n_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.D966fs	ENST00000373271.1	37	c.2897_2898	CCDS13314.1	20																																																																																			PLCG1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pirsf_PLC-gamma,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000124181		0.559	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3		0	71	0	-	NM_182811		39800922	1	tier1		no_errors	ENST00000244007	ensembl	human	known	74_37	frame_shift_ins	12.90	54	8	INS	0.999:0.993	G	G	39800922	-	G	39800921	7	5	112	1	0	1	1	0	0	0	0	0	12074	333	12	0	2995	0	PLCG1	20	39800921	Frame_Shift_Ins	INS	-	TCGA-LN-A4A2-01A-31D-A27G-09	2818093	39800921	23224599	189	30477											
ELMO2	63916	genome.wustl.edu	37	chr20	45017766	45017766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcagtagcgaaagtcacgtCggcagagagcttggccagct	10	7	13	11	3	2	1	2	0	0	1	3	3	2	1	1	2	3	4	1	2	2	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr20:45017766C>G	ENST00000290246.6	-	7	531	c.337G>C	c.(337-339)Gac>Cac	p.D113H	ELMO2_ENST00000439931.2_Missense_Mutation_p.D113H|ELMO2_ENST00000372176.1_Missense_Mutation_p.D25H|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.D113H|ELMO2_ENST00000396391.1_Missense_Mutation_p.D113H	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	113					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AAAGTCACGTCGGCAGAGAGC	0.557																																																	0													152	114	127					20																	45017766		2203	4300	6503	SO:0001583	missense	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.337G>C	20.37:g.45017766C>G	ENSP00000290246:p.Asp113His		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.D113H	ENST00000290246.6	37	c.337	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861167	0.91433	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.31	5.31	0.75309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75803	0.3899	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.79831	-0.1637	10	0.87932	D	0	-25.1672	17.9654	0.89099	0.0:1.0:0.0:0.0	.	113;113	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	H	113;25;113;113;113;113	ENSP00000290246:D113H;ENSP00000361249:D25H;ENSP00000379673:D113H;ENSP00000396519:D113H;ENSP00000326172:D113H;ENSP00000416181:D113H	ENSP00000290246:D113H	D	-	1	0	ELMO2	44451173	1.000000	0.71417	0.664000	0.29753	0.970000	0.65996	7.676000	0.84012	2.461000	0.83175	0.591000	0.81541	GAC	ELMO2	-	superfamily_ARM-type_fold	ENSG00000062598		0.557	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	-	0	42	0	C	NM_022086		45017766	-1	tier1	-	no_errors	ENST00000439931	ensembl	human	known	74_37	missense	19.51	66	16	SNP	1.000	G	G	45017766	C	G	45017766	3	3	112	1	0	0	0	0	1	0	0	0	5082	884	31	5	1889	5	ELMO2	20	45017766	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	5216845	45017766	18007754	190	30478											
ARFGEF2	10564	genome.wustl.edu	37	chr20	47538534	47538534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccagctgcgcagggcctgCcaggtggcgctcggtgggtg	3	7	18	13	3	0	0	0	0	0	0	2	0	1	0	3	5	3	3	3	5	0	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr20:47538534C>T	ENST00000371917.4	+	1	108	c.108C>T	c.(106-108)tgC>tgT	p.C36C		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	36	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)			GCAGGGCCTGCCAGGTGGCGC	0.701																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													23	26	25					20																	47538534		2164	4243	6407	SO:0001819	synonymous_variant	0			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.108C>T	20.37:g.47538534C>T			Q5TFT9|Q9NTS1	Silent	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.C36	ENST00000371917.4	37	c.108	CCDS13411.1	20																																																																																			ARFGEF2	-	NULL	ENSG00000124198		0.701	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	-	0	58	0	C	NM_006420		47538534	1	tier1	-	no_errors	ENST00000371917	ensembl	human	known	74_37	silent	19.74	61	15	SNP	1.000	T	T	47538534	C	T	47538534	2	4	112	1	0	0	0	0	0	0	0	1	853	747	26	3		3	ARFGEF2	20	47538534	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	2520768	47538534	15486986	191	30479											
C21orf29	54084	genome.wustl.edu	37	chr21	45949798	45949798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gggacacagccttggggtggCgtctgagcccggcagcagga	7	5	18	11	2	1	1	0	1	1	0	1	3	1	3	2	6	3	2	2	6	0	1	rs146216896		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr21:45949798C>T	ENST00000323084.4	-	5	738	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	TSPEAR_ENST00000397916.1_Missense_Mutation_p.A157T	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	225	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						CTTGGGGTGGCGTCTGAGCCC	0.672																																																	0								C	THR/ALA	0,4406		0,0,2203	33	37	36		673	5.1	1	21	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TSPEAR	NM_144991.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	225/670	45949798	1,13005	2203	4300	6503	SO:0001583	missense	0			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.673G>A	21.37:g.45949798C>T	ENSP00000321987:p.Ala225Thr			Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.A225T	ENST00000323084.4	37	c.673	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004857	0.93287	0.0	1.16E-4	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.45668	0.89;0.89	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.63283	0.913	T	0.70648	-0.4814	10	0.87932	D	0	-12.0784	18.5157	0.90935	0.0:1.0:0.0:0.0	.	225	Q8WU66	TSEAR_HUMAN	T	225;157;225	ENSP00000321987:A225T;ENSP00000381012:A157T	ENSP00000321987:A225T	A	-	1	0	TSPEAR	44774226	1.000000	0.71417	0.994000	0.49952	0.721000	0.41392	6.738000	0.74822	2.382000	0.81193	0.491000	0.48974	GCC	TSPEAR	-	superfamily_ConA-like_lec_gl_sf	ENSG00000175894		0.672	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	-	0	42	0	C	NM_144991		45949798	-1	tier1	rs146216896	no_errors	ENST00000323084	ensembl	human	known	74_37	missense	14.04	49	8	SNP	1.000	T	T	45949798	C	T	45949798	3	4	112	1	0	0	0	0	1	0	0	0	2131	768	27	1	1368	1	C21orf29	21	45949798	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09		45949798	2180097	192	30480											
KLHL22	84861	genome.wustl.edu	37	chr22	20819524	20819524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttccatcagcggaaaccGcactgtctcaaggagctttg	10	9	10	12	2	2	0	2	0	1	0	4	2	3	2	2	2	4	3	2	2	2	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr22:20819524G>A	ENST00000328879.4	-	4	889	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	KLHL22_ENST00000440659.2_Missense_Mutation_p.R102W	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	245					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCGGAAACCGCACTGTCTCA	0.607																																																	0													35	32	33					22																	20819524		2203	4300	6503	SO:0001583	missense	0				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.733C>T	22.37:g.20819524G>A	ENSP00000331682:p.Arg245Trp		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R245W	ENST00000328879.4	37	c.733	CCDS13780.1	22	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711758	0.89112	.	.	ENSG00000099910	ENST00000328879;ENST00000440659;ENST00000451553;ENST00000444967	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.32	5.32	0.75619	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.93083	0.6493	10	0.87932	D	0	.	16.477	0.84135	0.0:0.0:1.0:0.0	.	102;245	B7Z2G1;Q53GT1	.;KLH22_HUMAN	W	245;102;168;277	ENSP00000331682:R245W;ENSP00000405521:R102W;ENSP00000400095:R168W;ENSP00000403999:R277W	ENSP00000331682:R245W	R	-	1	2	KLHL22	19149524	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	9.085000	0.94083	2.483000	0.83821	0.655000	0.94253	CGG	KLHL22	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000099910		0.607	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL22	HGNC	protein_coding	OTTHUMT00000320045.2	-	0	49	0	G	NM_032775		20819524	-1	tier1	-	no_errors	ENST00000328879	ensembl	human	known	74_37	missense	6.46	246	17	SNP	1.000	A	A	20819524	G	A	20819524	3	1	112	1	0	0	0	0	1	0	0	0	8404	1086	38	1	1187	1	KLHL22	22	20819524	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09		20819524	30485042	193	30481											
MYO18B	84700	genome.wustl.edu	37	chr22	26299712	26299712	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgcgttgctggcttgaagGagaggctctggaagttggaa	9	11	16	5	1	1	2	0	1	1	1	1	5	1	4	0	5	2	5	0	5	3	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr22:26299712G>T	ENST00000407587.2	+	31	5234	c.5065G>T	c.(5065-5067)Gag>Tag	p.E1689*	CTA-125H2.2_ENST00000453457.3_RNA|MYO18B_ENST00000335473.7_Nonsense_Mutation_p.E1688*|CTA-125H2.2_ENST00000599080.1_RNA|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.E1688*|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|MYO18B_ENST00000536204.1_3'UTR			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1688	Gln-rich.|Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K1688_E1689>N*(1)|p.E1689*(1)		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						TGGCTTGAAGGAGAGGCTCTG	0.557																																																	2	Substitution - Nonsense(1)|Complex - compound substitution(1)	lung(2)											45	50	48					22																	26299712		1924	4134	6058	SO:0001587	stop_gained	0			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.5065G>T	22.37:g.26299712G>T	ENSP00000386096:p.Glu1689*		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1688*	ENST00000407587.2	37	c.5062		22	.	.	.	.	.	.	.	.	.	.	G	42	9.248304	0.99113	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	.	.	.	4.74	2.51	0.30379	.	0.514876	0.20004	N	0.101269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	3.0695	0.06225	0.1908:0.0:0.5678:0.2414	.	.	.	.	X	1688;1688;1689	.	ENSP00000334563:E1688X	E	+	1	0	MYO18B	24629712	1.000000	0.71417	0.885000	0.34714	0.088000	0.18126	4.124000	0.57924	1.199000	0.43173	0.655000	0.94253	GAG	MYO18B	-	NULL	ENSG00000133454		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1		0	31	0	G	NM_032608		26299712	1			no_errors	ENST00000335473	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.793	T	T	26299712	G	T	26299712	4	4	112	1	0	0	0	0	0	1	0	0	10104	1175	41	3	5180	3	MYO18B	22	26299712	Nonsense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	5480188	26299712	25004854	194	30482											
PKDREJ	10343	genome.wustl.edu	37	chr22	46652641	46652641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttacggcacaaataggtCattgcttccacttcatccga	11	11	7	12	2	2	0	2	0	0	0	4	1	4	0	2	2	3	3	2	2	3	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr22:46652641C>T	ENST00000253255.5	-	1	6578	c.6579G>A	c.(6577-6579)atG>atA	p.M2193I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2193					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)		ACAAATAGGTCATTGCTTCCA	0.458																																																	0													109	89	95					22																	46652641		2203	4300	6503	SO:0001583	missense	0			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.6579G>A	22.37:g.46652641C>T	ENSP00000253255:p.Met2193Ile		B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2	p.M2193I	ENST00000253255.5	37	c.6579	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	C	1.948	-0.441930	0.04604	.	.	ENSG00000130943	ENST00000253255	T	0.32753	1.44	5.56	0.245	0.15512	.	0.524714	0.20467	N	0.091764	T	0.11836	0.0288	N	0.17082	0.46	0.09310	N	1	B	0.22276	0.067	B	0.15052	0.012	T	0.19289	-1.0310	10	0.11485	T	0.65	-31.7556	1.9557	0.03375	0.1309:0.3817:0.2796:0.2078	.	2193	Q9NTG1	PKDRE_HUMAN	I	2193	ENSP00000253255:M2193I	ENSP00000253255:M2193I	M	-	3	0	PKDREJ	45031305	0.005000	0.15991	0.014000	0.15608	0.012000	0.07955	-0.460000	0.06720	0.194000	0.20326	0.557000	0.71058	ATG	PKDREJ	-	NULL	ENSG00000130943		0.458	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	-	0	28	0	C	NM_006071		46652641	-1	tier1	-	no_errors	ENST00000253255	ensembl	human	known	74_37	missense	56.00	11	14	SNP	0.000	T	T	46652641	C	T	46652641	3	4	112	1	0	0	0	0	1	0	0	0	12009	826	29	3	186	3	PKDREJ	22	46652641	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	20352929	46652641	4651925	195	30483											
PLXNB2	23654	genome.wustl.edu	37	chr22	50722588	50722589	+	Nonsense_Mutation	DNP	CG	CG	AT																															cttgctgtcgatattcttgcCgtaagacttgacgtagaggt																								rs532944576|rs551050919		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C|G	C|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr22:50722588_50722589CG>AT	ENST00000449103.1	-	13	2375_2376	c.2235_2236CG>AT	c.(2233-2238)taCGgc>taATgc	p.745_746YG>*C	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.745_746YG>*C			O15031	PLXB2_HUMAN	plexin B2	745					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.Y788Y(1)|p.G789S(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)		ATATTCTTGCCGTAAGACTTGA	0.678																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	prostate(1)|endometrium(1)																																								SO:0001587	stop_gained	0				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.2235_2236delinsAT	22.37:g.50722588_50722589delinsAT	ENSP00000409171:p.Y745_G746delins*C		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation|Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G746C|p.Y745*	ENST00000449103.1	37	c.2236|c.2235	CCDS43035.1	22																																																																																			PLXNB2	-	NULL	ENSG00000196576		0.678	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0	163|165	0	C|G	NM_012401		50722588|50722589	-1			no_errors	ENST00000359337	ensembl	human	known	74_37	missense|nonsense	5.26|6.78	54|55	3|4	SNP	0.725|0.034	A|T	AT	50722589	CG	AT	50722588	4	1	112	1	0	0	0	0	0	1	0	0	12163	652	23	2	3380	2	PLXNB2	22	50722588	Nonsense_Mutation	DNP	CG	TCGA-LN-A4A2-01A-31D-A27G-09	4069947	50722588	581978	196	30484											
DMD	1756	genome.wustl.edu	37	chrX	32503127	32503128	+	Missense_Mutation	DNP	GG	GG	AT																															aagtctgcatccaggaacatGggtccttgtcctttctcttt																										TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chrX:32503127_32503128GG>AT	ENST00000357033.4	-	21	2917_2918	c.2711_2712CC>AT	c.(2710-2712)cCC>cAT	p.P904H	DMD_ENST00000378677.2_Missense_Mutation_p.P900H	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	904					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)				CCAGGAACATGGGTCCTTGTCC	0.411																																																	0																																										SO:0001583	missense	0			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.2711_2712delinsAT	X.37:g.32503127_32503128delinsAT	ENSP00000354923:p.Pro904His		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent|Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.P904|p.P904H	ENST00000357033.4	37	c.2712|c.2711	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.411	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	23	0	G	NM_004006		32503127|32503128	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	silent|missense	60.87	9	14	SNP	0.997|1.000	A|T	AT	32503128	GG	AT	32503127	3	1	112	1	0	0	0	0	1	0	0	0	4594	1335	47	3	8824	3	DMD	23	32503127	Missense_Mutation	DNP	GG	TCGA-LN-A4A2-01A-31D-A27G-09		32503127	122767433	197	30485											
FOXR2	139628	genome.wustl.edu	37	chrX	55650456	55650456	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagtggaaaagaggatctGacaaacatttctcctttccc	12	10	7	12	0	2	2	0	1	2	1	4	4	3	4	3	2	1	0	3	2	3	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chrX:55650456G>C	ENST00000339140.3	+	1	624	c.312G>C	c.(310-312)ctG>ctC	p.L104L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	104					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAGAGGATCTGACAAACATTT	0.547																																																	0													65	59	61					X																	55650456		2203	4300	6503	SO:0001819	synonymous_variant	0			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.312G>C	X.37:g.55650456G>C				Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L104	ENST00000339140.3	37	c.312	CCDS35308.1	X																																																																																			FOXR2	-	NULL	ENSG00000189299		0.547	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR2	HGNC	protein_coding	OTTHUMT00000056877.2	-	0	20	0	G	NM_198451		55650456	1	tier1	-	no_errors	ENST00000339140	ensembl	human	known	74_37	silent	55.56	4	5	SNP	0.000	C	C	55650456	G	C	55650456	2	2	112	1	0	0	0	0	0	0	0	1	6056	1277	45	5		5	FOXR2	23	55650456	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	23147329	55650456	99620104	198	30486											
PCDH19	57526	genome.wustl.edu	37	chrX	99661679	99661679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgagccaccacgataagCtcataggaggacttggagct	11	8	12	10	2	1	1	1	1	0	0	2	5	1	4	2	3	3	2	2	3	2	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chrX:99661679C>A	ENST00000373034.4	-	1	3592	c.1917G>T	c.(1915-1917)gaG>gaT	p.E639D	PCDH19_ENST00000420881.2_Missense_Mutation_p.E639D|PCDH19_ENST00000255531.7_Missense_Mutation_p.E639D	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	639	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCACGATAAGCTCATAGGAGG	0.562																																																	0													58	60	59					X																	99661679		2060	4191	6251	SO:0001583	missense	0			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.1917G>T	X.37:g.99661679C>A	ENSP00000362125:p.Glu639Asp		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E639D	ENST00000373034.4	37	c.1917	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333410	0.41297	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.55413	0.52;0.52;0.52	5.84	3.78	0.43462	Cadherin (4);Cadherin-like (1);	0.050035	0.85682	D	0.000000	T	0.62245	0.2412	M	0.68593	2.085	0.49483	D	0.999794	P;D;D	0.59357	0.946;0.982;0.985	P;P;P	0.59115	0.741;0.769;0.852	T	0.57808	-0.7747	10	0.36615	T	0.2	.	8.8704	0.35311	0.0:0.7341:0.0:0.2659	.	639;639;639	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	D	639	ENSP00000400327:E639D;ENSP00000362125:E639D;ENSP00000255531:E639D	ENSP00000255531:E639D	E	-	3	2	PCDH19	99548335	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.276000	0.33156	0.400000	0.25396	0.513000	0.50165	GAG	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165194		0.562	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	-	0	20	0	C	NM_020766		99661679	-1	tier1	-	no_errors	ENST00000373034	ensembl	human	known	74_37	missense	57.14	9	12	SNP	1.000	A	A	99661679	C	A	99661679	3	1	112	1	0	0	0	0	1	0	0	0	11553	796	28	3	1553	3	PCDH19	23	99661679	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	44011223	99661679	55608881	199	30487											
MAGEC3	139081	genome.wustl.edu	37	chrX	140985578	140985578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctactgccatggccagtgCaagccccagtgtcatgtcca	8	9	10	14	0	1	0	1	0	0	0	2	0	2	0	5	1	5	2	5	1	2	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chrX:140985578C>A	ENST00000298296.1	+	8	1892	c.1892C>A	c.(1891-1893)gCa>gAa	p.A631E	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	631	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGCCAGTGCAAGCCCCAGT	0.507																																																	0													77	65	69					X																	140985578		2203	4300	6503	SO:0001583	missense	0			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.1892C>A	X.37:g.140985578C>A	ENSP00000298296:p.Ala631Glu		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.A631E	ENST00000298296.1	37	c.1892	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	c	7.165	0.586508	0.13749	.	.	ENSG00000165509	ENST00000298296	T	0.03094	4.05	1.18	1.18	0.20946	.	.	.	.	.	T	0.02807	0.0084	L	0.28556	0.865	0.09310	N	1	B	0.26483	0.15	B	0.20767	0.031	T	0.44711	-0.9310	9	0.30854	T	0.27	.	5.2968	0.15756	0.0:1.0:0.0:0.0	.	631	Q8TD91	MAGC3_HUMAN	E	631	ENSP00000298296:A631E	ENSP00000298296:A631E	A	+	2	0	MAGEC3	140813244	0.000000	0.05858	0.021000	0.16686	0.153000	0.21895	0.456000	0.21859	0.860000	0.35481	0.179000	0.17066	GCA	MAGEC3	-	NULL	ENSG00000165509		0.507	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0	59	0	C	NM_138702		140985578	1	tier1	-	no_errors	ENST00000298296	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.021	A	A	140985578	C	A	140985578	3	1	112	1	0	0	0	0	1	0	0	0	9220	710	25	3	2289	3	MAGEC3	23	140985578	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	41323899	140985578	14284982	200	30488											
KIF1B	23095	genome.wustl.edu	37	chr1	10356990	10356990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaaaaaccatgttttcCgctttaaccacccggaacaa	13	10	7	11	2	0	0	0	0	0	0	1	1	1	1	4	2	3	3	4	2	6	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:10356990C>A	ENST00000377086.1	+	21	2099	c.1897C>A	c.(1897-1899)Cgc>Agc	p.R633S	KIF1B_ENST00000263934.6_Missense_Mutation_p.R587S|KIF1B_ENST00000377083.1_Missense_Mutation_p.R587S|RNU6-37P_ENST00000362692.1_RNA|KIF1B_ENST00000377093.4_Missense_Mutation_p.R587S|KIF1B_ENST00000377081.1_Missense_Mutation_p.R633S			O60333	KIF1B_HUMAN	kinesin family member 1B	633					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)		CCATGTTTTCCGCTTTAACCA	0.423																																																	0													54	58	57					1																	10356990		2203	4300	6503	SO:0001583	missense	0			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.1897C>A	1.37:g.10356990C>A	ENSP00000366290:p.Arg633Ser		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R587S	ENST00000377086.1	37	c.1759		1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775327	0.90108	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	6.03	6.03	0.97812	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.992;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.989;0.998;0.982;0.975;0.979;0.996	D	0.90235	0.4282	10	0.87932	D	0	.	16.7806	0.85562	0.1294:0.8706:0.0:0.0	.	619;593;633;607;633;587;587	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	S	633;587;587;633;587;633	ENSP00000263934:R587S;ENSP00000366297:R587S;ENSP00000366290:R633S;ENSP00000366287:R587S;ENSP00000366284:R633S	ENSP00000263934:R587S	R	+	1	0	KIF1B	10279577	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.026000	0.64103	2.854000	0.98071	0.655000	0.94253	CGC	KIF1B	-	superfamily_SMAD_FHA_domain	ENSG00000054523		0.423	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	-	0	30	0	C			10356990	1	tier1	-	no_errors	ENST00000263934	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	A	A	10356990	C	A	10356990	3	1	113	1	0	0	0	0	1	0	0	0	8311	652	23	2	1829	2	KIF1B	1	10356990	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09		10356990	238893631	1	30489											
MFN2	9927	genome.wustl.edu	37	chr1	12049265	12049265	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gatgcaactctatcgtcacaGtcaagaaaaataagagacac	18	7	7	9	1	3	2	2	0	1	2	4	4	3	2	0	0	2	1	0	0	6	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:12049265G>T	ENST00000235329.5	+	3	362	c.40G>T	c.(40-42)Gtc>Ttc	p.V14F	MFN2_ENST00000444836.1_Missense_Mutation_p.V14F|MFN2_ENST00000497302.1_3'UTR	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	14					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)		TATCGTCACAGTCAAGAAAAA	0.493																																																	0													172	156	161					1																	12049265		2203	4300	6503	SO:0001583	missense	0			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.40G>T	1.37:g.12049265G>T	ENSP00000235329:p.Val14Phe		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.V14F	ENST00000235329.5	37	c.40	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.603222	0.46423	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	D;D;D	0.99382	-5.8;-5.8;-3.6	5.88	4.88	0.63580	.	0.671077	0.15449	N	0.261783	D	0.95487	0.8534	N	0.14661	0.345	0.28000	N	0.93534	B	0.29805	0.257	B	0.21151	0.033	D	0.90246	0.4290	10	0.10902	T	0.67	-16.3388	8.633	0.33930	0.1901:0.0:0.8099:0.0	.	14	O95140	MFN2_HUMAN	F	14	ENSP00000416338:V14F;ENSP00000235329:V14F;ENSP00000412023:V14F	ENSP00000235329:V14F	V	+	1	0	MFN2	11971852	0.991000	0.36638	0.978000	0.43139	0.878000	0.50629	2.120000	0.41968	2.782000	0.95742	0.655000	0.94253	GTC	MFN2	-	NULL	ENSG00000116688		0.493	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2		0	55	0	G	NM_014874		12049265	1			no_errors	ENST00000235329	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.920	T	T	12049265	G	T	12049265	3	4	113	1	0	0	0	0	1	0	0	0	9562	1029	36	3	42	3	MFN2	1	12049265	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	1692275	12049265	237201356	2	30490											
ELOVL1	64834	genome.wustl.edu	37	chr1	43830658	43830658	+	Missense_Mutation	SNP	T	T	A	0	1	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	acagcgccaggtataggtgcTcagccagcccgacatcagga	11	5	12	13	2	2	0	2	0	0	0	2	2	2	1	3	3	4	2	3	3	2	2	rs112685758		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:43830658T>A	ENST00000372458.3	-	4	376	c.259A>T	c.(259-261)Agc>Tgc	p.S87C	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Intron	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	87					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|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)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTATAGGTGCTCAGCCAGCCC	0.567																																																	0													44	42	43					1																	43830658		2203	4300	6503	SO:0001583	missense	0			AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.259A>T	1.37:g.43830658T>A	ENSP00000361536:p.Ser87Cys		B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.S87C	ENST00000372458.3	37	c.259	CCDS485.1	1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274382	0.59649	.	.	ENSG00000066322	ENST00000372458	T	0.24350	1.86	5.77	4.65	0.58169	.	0.080797	0.85682	D	0.000000	T	0.37652	0.1011	L	0.49778	1.585	0.80722	D	1	D	0.55800	0.973	P	0.59115	0.852	T	0.04885	-1.0920	10	0.38643	T	0.18	1.5006	11.2159	0.48825	0.0:0.0712:0.0:0.9288	.	87	Q9BW60	ELOV1_HUMAN	C	87	ENSP00000361536:S87C	ENSP00000361536:S87C	S	-	1	0	ELOVL1	43603245	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.934000	0.70138	2.199000	0.70637	0.533000	0.62120	AGC	ELOVL1	-	pfam_GNS1_SUR4	ENSG00000066322		0.567	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL1	HGNC	protein_coding	OTTHUMT00000019496.1	-	0	27	0	T	NM_022821		43830658	-1	tier1	-	no_errors	ENST00000372458	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	A	A	43830658	T	A	43830658	3	1	113	1	0	0	0	0	1	0	0	0	5089	1551	54	5	600	5	ELOVL1	1	43830658	Missense_Mutation	SNP	T	TCGA-LN-A4A3-01A-11D-A27G-09	31781393	43830658	205419963	3	30491											
FAF1	11124	genome.wustl.edu	37	chr1	50941345	50941345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgctctaaggacagccGgatggcctagggagagcaaa	11	6	15	9	1	1	1	0	0	1	1	1	4	1	3	2	5	3	3	2	5	3	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:50941345G>A	ENST00000396153.2	-	18	2111	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	FAF1_ENST00000371778.4_Missense_Mutation_p.R554W|FAF1_ENST00000545823.1_Missense_Mutation_p.R312W	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	554					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)			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)		AAGGACAGCCGGATGGCCTAG	0.522																																																	0													29	28	28					1																	50941345		2203	4300	6503	SO:0001583	missense	0			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.1660C>T	1.37:g.50941345G>A	ENSP00000379457:p.Arg554Trp		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.R554W	ENST00000396153.2	37	c.1660	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478278	0.63849	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.41	2.34	0.29019	.	0.000000	0.85682	D	0.000000	T	0.76863	0.4047	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.928	T	0.78807	-0.2059	9	0.72032	D	0.01	-16.8176	15.1172	0.72413	0.0:0.0:0.4005:0.5995	.	312;554	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	W	554;554;312;394;402	.	ENSP00000360843:R554W	R	-	1	2	FAF1	50713933	1.000000	0.71417	0.989000	0.46669	0.900000	0.52787	1.709000	0.37909	0.180000	0.19960	-0.181000	0.13052	CGG	FAF1	-	NULL	ENSG00000185104		0.522	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1		0	39	0	G	NM_007051		50941345	-1			no_errors	ENST00000371778	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	50941345	G	A	50941345	3	1	113	1	0	0	0	0	1	0	0	0	5388	1115	39	1	300	1	FAF1	1	50941345	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	7110687	50941345	198309276	4	30492											
TNNI3K	100526835	genome.wustl.edu	37	chr1	74819776	74819776	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaggtctagtggtgaaaaAgatgagcagacatgtttgat	14	10	13	4	0	1	5	0	3	1	2	1	5	1	5	0	2	2	3	0	2	3	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:74819776A>G	ENST00000370899.3	+	13	1480	c.1443A>G	c.(1441-1443)aaA>aaG	p.K481K	TNNI3K_ENST00000370891.2_Silent_p.K481K|FPGT-TNNI3K_ENST00000370895.1_Silent_p.K481K|FPGT-TNNI3K_ENST00000557284.2_Silent_p.K494K|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Silent_p.K380K	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.D381fs*6(1)									GTGGTGAAAAAGATGAGCAGA	0.408																																																	1	Deletion - Frameshift(1)	large_intestine(1)											160	149	152					1																	74819776		2203	4300	6503	SO:0001819	synonymous_variant	0					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1443A>G	1.37:g.74819776A>G				Silent	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K494	ENST00000370899.3	37	c.1482		1																																																																																			FPGT-TNNI3K	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000259030		0.408	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3		0	60	0	A			74819776	1			no_errors	ENST00000557284	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.999	G	G	74819776	A	G	74819776	2	3	113	1	0	0	0	0	0	0	0	1	16376	69	3	4		4	TNNI3K	1	74819776	Silent	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	23878431	74819776	174430845	5	30493											
KIAA0907	22889	genome.wustl.edu	37	chr1	155891416	155891416	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatagcagagggttgtgtaTagcctgagggggaagaaaaa	14	9	15	3	0	0	3	0	1	0	2	0	4	0	4	1	3	2	3	1	3	7	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:155891416T>C	ENST00000368321.3	-	10	1039	c.1016A>G	c.(1015-1017)tAt>tGt	p.Y339C	KIAA0907_ENST00000482337.1_Intron|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Y339C|KIAA0907_ENST00000368319.3_Intron|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	339	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGGTTGTGTATAGCCTGAGGG	0.423																																																	0													105	106	106					1																	155891416		2203	4300	6503	SO:0001583	missense	0			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1016A>G	1.37:g.155891416T>C	ENSP00000357304:p.Tyr339Cys		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	NULL	p.Y339C	ENST00000368321.3	37	c.1016	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052069	0.55218	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	.	.	.	5.62	5.62	0.85841	.	0.251756	0.40064	N	0.001183	T	0.33673	0.0871	N	0.19112	0.55	0.80722	D	1	D;P	0.54964	0.969;0.924	P;B	0.50490	0.642;0.263	T	0.39418	-0.9615	9	0.59425	D	0.04	-7.8122	10.5507	0.45087	0.1808:0.0:0.0:0.8192	.	339;339	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	C	339	.	ENSP00000357303:Y339C	Y	-	2	0	KIAA0907	154158040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.405000	0.52630	2.136000	0.66102	0.402000	0.26972	TAT	KIAA0907	-	NULL	ENSG00000132680		0.423	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	-	0	55	0	T	NM_014949		155891416	-1	tier1	-	no_errors	ENST00000368321	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	C	C	155891416	T	C	155891416	3	2	113	1	0	0	0	0	1	0	0	0	8226	1406	49	4	848	4	KIAA0907	1	155891416	Missense_Mutation	SNP	T	TCGA-LN-A4A3-01A-11D-A27G-09	81071640	155891416	93359205	6	30494											
NTRK1	4914	genome.wustl.edu	37	chr1	156844776	156844776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ttgtgctcaacaaatgtggaCggagaaacaagtttgggatc	13	10	12	6	1	1	1	1	0	0	1	2	4	1	3	0	3	3	2	0	3	4	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:156844776C>T	ENST00000524377.1	+	11	1371	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	NTRK1_ENST00000368196.3_Missense_Mutation_p.R438W|NTRK1_ENST00000392302.2_Missense_Mutation_p.R408W|NTRK1_ENST00000358660.3_Missense_Mutation_p.R438W	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	444			R -> Q (in dbSNP:rs56320207). {ECO:0000269|PubMed:17344846}.		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)	CAAATGTGGACGGAGAAACAA	0.567			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													134	125	128					1																	156844776		2203	4300	6503	SO:0001583	missense	0			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.1330C>T	1.37:g.156844776C>T	ENSP00000431418:p.Arg444Trp		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.R444W	ENST00000524377.1	37	c.1330	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293375	0.60086	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.79247	-1.21;-1.21;-1.25;-1.24	5.57	4.66	0.58398	.	0.598045	0.14997	N	0.286303	T	0.78181	0.4243	M	0.64997	1.995	0.34146	D	0.666945	D;D;D;D	0.76494	0.995;0.999;0.978;0.997	P;P;B;P	0.55824	0.762;0.785;0.425;0.65	T	0.79555	-0.1755	10	0.87932	D	0	.	14.9582	0.71135	0.2584:0.7416:0.0:0.0	.	438;438;444;408	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	W	408;438;444;438	ENSP00000376120:R408W;ENSP00000357179:R438W;ENSP00000431418:R444W;ENSP00000351486:R438W	ENSP00000351486:R438W	R	+	1	2	NTRK1	155111400	1.000000	0.71417	0.998000	0.56505	0.428000	0.31595	4.359000	0.59449	0.715000	0.32103	-1.367000	0.01198	CGG	NTRK1	-	prints_Tyr_kinase_neurotrophic_rcpt_1	ENSG00000198400		0.567	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	-	0	40	0	C	NM_002529		156844776	1	tier1	-	no_errors	ENST00000524377	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	156844776	C	T	156844776	3	4	113	1	0	0	0	0	1	0	0	0	10745	527	19	1	1502	1	NTRK1	1	156844776	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	953360	156844776	92405845	7	30495											
C1orf192	257177	genome.wustl.edu	37	chr1	161335367	161335368	+	Frame_Shift_Ins	INS	-	-	T																															aggccttgagtaaatcaggaINStttttctgtatccatttggt																								rs528758301		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:161335367_161335368insT	ENST00000367974.1	-	4	301_302	c.296_297insA	c.(295-297)aatfs	p.N99fs	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	99										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTAAATCAGGATTTTTCTGTAT	0.495																																																	0																																										SO:0001589	frameshift_variant	0				CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.297dupA	1.37:g.161335372_161335372dupT	ENSP00000356951:p.Asn99fs			Frame_Shift_Ins	INS	NULL	p.N99fs	ENST00000367974.1	37	c.297_296	CCDS30921.1	1																																																																																			C1orf192	-	NULL	ENSG00000188931		0.495	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf192	HGNC	protein_coding	OTTHUMT00000083309.1		0	86	0	0	NM_001013625		161335368	-1			no_errors	ENST00000367974	ensembl	human	known	74_37	frame_shift_ins	9.00	91	9	INS	0.977:0.985	T	T	161335368	-	T	161335367	7	5	113	1	0	1	1	0	0	0	0	0	2031	330	12	0	244	0	C1orf192	1	161335367	Frame_Shift_Ins	INS	-	TCGA-LN-A4A3-01A-11D-A27G-09	4490591	161335367	87915254	8	30496											
DCAF6	55827	genome.wustl.edu	37	chr1	168007624	168007624	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagataacaataatgaaaAgctgagccccaaaccaggga	18	6	8	9	0	1	3	1	2	0	1	1	4	1	4	3	1	4	1	3	1	6	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:168007624A>T	ENST00000312263.6	+	11	1598	c.1394A>T	c.(1393-1395)aAg>aTg	p.K465M	DCAF6_ENST00000367843.3_Missense_Mutation_p.K485M|DCAF6_ENST00000367840.3_Missense_Mutation_p.K542M|DCAF6_ENST00000432587.2_Missense_Mutation_p.K511M	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	465					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AATAATGAAAAGCTGAGCCCC	0.318																																																	0													75	75	75					1																	168007624		2203	4300	6503	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1394A>T	1.37:g.168007624A>T	ENSP00000311949:p.Lys465Met		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.K542M	ENST00000312263.6	37	c.1625	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.312997	0.60414	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.13	2.79	0.32731	WD40 repeat-like-containing domain (1);	0.603254	0.17090	N	0.187425	T	0.17450	0.0419	N	0.24115	0.695	0.09310	N	0.999998	D;D;D;D	0.61697	0.963;0.99;0.958;0.988	P;P;P;P	0.57548	0.707;0.771;0.595;0.823	T	0.05566	-1.0877	9	0.54805	T	0.06	.	7.5047	0.27538	0.8131:0.0:0.1869:0.0	.	511;542;465;485	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	M	485;511;465;542	ENSP00000356817:K485M;ENSP00000396238:K511M;ENSP00000311949:K465M;ENSP00000356814:K542M	ENSP00000311949:K465M	K	+	2	0	DCAF6	166274248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.458000	0.35223	0.378000	0.24764	0.477000	0.44152	AAG	DCAF6	-	superfamily_WD40_repeat_dom	ENSG00000143164		0.318	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2		0	27	0	A	NM_018442		168007624	1			no_errors	ENST00000367840	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	168007624	A	T	168007624	3	4	113	1	0	0	0	0	1	0	0	0	4283	72	3	5	1500	5	DCAF6	1	168007624	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	6672257	168007624	81242997	9	30497											
C1orf129	80133	genome.wustl.edu	37	chr1	170985377	170985377	+	Missense_Mutation	SNP	A	A	G	1	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	agacgataatgttgtacttcAggccttgctcacccttagaa	11	12	8	10	1	2	2	2	0	0	2	2	3	2	2	2	1	2	3	2	1	4	6			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:170985377A>G	ENST00000367759.4	+	17	1962	c.1808A>G	c.(1807-1809)cAg>cGg	p.Q603R		NM_001163629.1	NP_001157101.1	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	0																	GTTGTACTTCAGGCCTTGCTC	0.413																																																	0													200	162	174					1																	170985377		692	1591	2283	SO:0001583	missense	0			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.1808A>G	1.37:g.170985377A>G	ENSP00000356733:p.Gln603Arg		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q603R	ENST00000367759.4	37	c.1808	CCDS53429.1	1	.	.	.	.	.	.	.	.	.	.	A	2.093	-0.407887	0.04832	.	.	ENSG00000117501	ENST00000367759	T	0.65916	-0.18	5.6	-1.35	0.09114	.	.	.	.	.	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27971	-1.0058	9	0.29301	T	0.29	.	9.3277	0.38003	0.6137:0.0:0.3863:0.0	.	603	F5GWX6	.	R	603	ENSP00000356733:Q603R	ENSP00000356733:Q603R	Q	+	2	0	C1orf129	169252001	0.597000	0.26874	0.047000	0.18901	0.002000	0.02628	0.262000	0.18460	-0.130000	0.11599	-1.699000	0.00722	CAG	MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.413	MROH9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH9	HGNC	protein_coding		-	0	97	0	A	NM_025063		170985377	1	tier1	-	no_errors	ENST00000367759	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.189	G	G	170985377	A	G	170985377	3	3	113	1	0	0	0	0	1	0	0	0	2003	188	7	4	1996	4	C1orf129	1	170985377	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	2977753	170985377	78265244	10	30498											
PLXNA2	5362	genome.wustl.edu	37	chr1	208225774	208225774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagtgcctcctgactcgggaCctcggattgggttgagtgac	6	11	14	10	2	0	3	0	3	0	0	3	5	1	5	3	3	1	1	3	3	1	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:208225774C>A	ENST00000367033.3	-	15	3648	c.2891G>T	c.(2890-2892)gGt>gTt	p.G964V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	964	IPT/TIG 2.				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)		TGACTCGGGACCTCGGATTGG	0.527																																																	0													87	79	82					1																	208225774		2203	4300	6503	SO:0001583	missense	0			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.2891G>T	1.37:g.208225774C>A	ENSP00000356000:p.Gly964Val		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G964V	ENST00000367033.3	37	c.2891	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635920	0.87760	.	.	ENSG00000076356	ENST00000367033	T	0.68765	-0.35	5.58	5.58	0.84498	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87249	0.6130	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90084	0.4172	10	0.87932	D	0	.	19.5563	0.95349	0.0:1.0:0.0:0.0	.	964	O75051	PLXA2_HUMAN	V	964	ENSP00000356000:G964V	ENSP00000356000:G964V	G	-	2	0	PLXNA2	206292397	1.000000	0.71417	0.977000	0.42913	0.730000	0.41778	7.207000	0.77899	2.628000	0.89032	0.650000	0.86243	GGT	PLXNA2	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000076356		0.527	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6		0	66	0	C	NM_025179		208225774	-1			no_errors	ENST00000367033	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	208225774	C	A	208225774	3	1	113	1	0	0	0	0	1	0	0	0	12159	507	18	3	2865	3	PLXNA2	1	208225774	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	37240397	208225774	41024847	11	30499											
OBSCN	84033	genome.wustl.edu	37	chr1	228467068	228467068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccggctgatgctgcggcGgacctgctccaccatgaccg	6	6	13	16	4	0	2	0	2	0	0	1	3	1	3	5	3	3	4	5	3	0	0	rs547478529		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:228467068G>A	ENST00000422127.1	+	27	7363	c.7319G>A	c.(7318-7320)cGg>cAg	p.R2440Q	OBSCN_ENST00000284548.11_Missense_Mutation_p.R2440Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1287Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.R2869Q|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2440					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)				ATGCTGCGGCGGACCTGCTCC	0.701													G|||	1	0.000199681	0	0.0014	5008	,	,		15076	0		0	False		,,,				2504	0																0													41	49	47					1																	228467068		2108	4213	6321	SO:0001583	missense	0			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.7319G>A	1.37:g.228467068G>A	ENSP00000409493:p.Arg2440Gln		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R2440Q	ENST00000422127.1	37	c.7319	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129412	0.37630	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.41065	1.01;1.01;1.01	4.62	0.992	0.19819	Immunoglobulin-like fold (1);	0.320797	0.25180	N	0.032531	T	0.31167	0.0788	N	0.05574	-0.02	0.09310	N	0.999991	D;P;D	0.89917	1.0;0.813;0.973	P;B;B	0.61874	0.895;0.091;0.31	T	0.25398	-1.0133	10	0.13853	T	0.58	.	7.0431	0.25031	0.652:0.0:0.348:0.0	.	2440;2440;2440	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	Q	2440;2440;1287;139	ENSP00000284548:R2440Q;ENSP00000409493:R2440Q;ENSP00000352613:R1287Q	ENSP00000284548:R2440Q	R	+	2	0	OBSCN	226533691	0.227000	0.23707	0.269000	0.24586	0.299000	0.27559	2.721000	0.47260	0.270000	0.21984	0.555000	0.69702	CGG	OBSCN	-	NULL	ENSG00000154358		0.701	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	122	0	G	NM_052843		228467068	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	7.65	181	15	SNP	0.059	A	A	228467068	G	A	228467068	3	1	113	1	0	0	0	0	1	0	0	0	10851	1116	39	1	7421	1	OBSCN	1	228467068	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	20241294	228467068	20783553	12	30500											
ZFP36L2	678	genome.wustl.edu	37	chr2	43452439	43452440	+	Frame_Shift_Ins	INS	-	-	CA																															ggcacttttcgccgtacttgINScacgtgccgctctcctcgaa																										TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:43452439_43452440insCA	ENST00000282388.3	-	2	796_797	c.503_504insTG	c.(502-504)tgcfs	p.C168fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	168					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGCCGTACTTGCACGTGCCGCT	0.634																																																	0																																										SO:0001589	frameshift_variant	0			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.502_503dupTG	2.37:g.43452440_43452441dupCA	ENSP00000282388:p.Cys168fs		Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.K169fs	ENST00000282388.3	37	c.504_503	CCDS1811.1	2																																																																																			ZFP36L2	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000152518		0.634	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2		0	72	0	0	NM_006887		43452440	-1			no_errors	ENST00000282388	ensembl	human	known	74_37	frame_shift_ins	9.71	93	10	INS	1.000:1.000	CA	CA	43452440	-	CA	43452439	7	5	113	1	0	1	1	0	0	0	0	0	17695	1311	46	0	984	0	ZFP36L2	2	43452439	Frame_Shift_Ins	INS	-	TCGA-LN-A4A3-01A-11D-A27G-09		43452439	199746934	13	30501											
PSD4	23550	genome.wustl.edu	37	chr2	113958885	113958885	+	Missense_Mutation	SNP	T	T	C	0	1	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	agaagtcccactcgagcccgTccctgcaccaggatgaggct	9	6	11	15	2	0	2	0	1	0	1	3	4	2	3	4	2	2	2	4	2	1	0			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:113958885T>C	ENST00000245796.6	+	17	3259	c.3064T>C	c.(3064-3066)Tcc>Ccc	p.S1022P	PSD4_ENST00000441564.3_Missense_Mutation_p.S993P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	1022					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						CTCGAGCCCGTCCCTGCACCA	0.622																																																	0													101	88	93					2																	113958885		2203	4300	6503	SO:0001583	missense	0			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.3064T>C	2.37:g.113958885T>C	ENSP00000245796:p.Ser1022Pro		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.S1022P	ENST00000245796.6	37	c.3064	CCDS33276.1	2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048511	0.75846	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.18810	2.19;2.27	5.22	5.22	0.72569	.	0.063501	0.64402	D	0.000005	T	0.44726	0.1307	M	0.72118	2.19	0.80722	D	1	D;D;D;P;P	0.89917	0.999;1.0;0.999;0.903;0.857	D;D;D;P;B	0.72982	0.979;0.963;0.961;0.579;0.373	T	0.44559	-0.9320	10	0.87932	D	0	.	13.0545	0.58971	0.0:0.0:0.0:1.0	.	252;335;679;993;1022	B4DFU9;B3KN27;Q59HG0;Q8NDX1-2;Q8NDX1	.;.;.;.;PSD4_HUMAN	P	1022;993	ENSP00000245796:S1022P;ENSP00000413997:S993P	ENSP00000245796:S1022P	S	+	1	0	PSD4	113675356	0.998000	0.40836	0.383000	0.26132	0.991000	0.79684	2.800000	0.47900	1.971000	0.57363	0.459000	0.35465	TCC	PSD4	-	NULL	ENSG00000125637		0.622	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1		0	25	0	T	NM_012455		113958885	1			no_errors	ENST00000245796	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.918	C	C	113958885	T	C	113958885	3	2	113	1	0	0	0	0	1	0	0	0	12691	1667	58	4	3126	4	PSD4	2	113958885	Missense_Mutation	SNP	T	TCGA-LN-A4A3-01A-11D-A27G-09	70506446	113958885	129240488	14	30502											
NEB	4703	genome.wustl.edu	37	chr2	152471049	152471049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggtcatccttaatgttcCgggccccaatatggtggcca	7	11	11	12	2	1	0	1	0	0	0	4	0	3	0	5	4	0	1	5	4	3	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:152471049C>T	ENST00000172853.10	-	73	10760	c.10613G>A	c.(10612-10614)cGg>cAg	p.R3538Q	NEB_ENST00000603639.1_Missense_Mutation_p.R3781Q|NEB_ENST00000427231.2_Missense_Mutation_p.R3781Q|NEB_ENST00000604864.1_Missense_Mutation_p.R3781Q|NEB_ENST00000409198.1_Missense_Mutation_p.R3538Q|NEB_ENST00000397345.3_Missense_Mutation_p.R3781Q			P20929	NEBU_HUMAN	nebulin	3538					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.R3538Q(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)		CTTAATGTTCCGGGCCCCAAT	0.433																																																	1	Substitution - Missense(1)	breast(1)											150	142	145					2																	152471049		1918	4122	6040	SO:0001583	missense	0			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.10613G>A	2.37:g.152471049C>T	ENSP00000172853:p.Arg3538Gln		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R3781Q	ENST00000172853.10	37	c.11342		2	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765195	0.69878	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.08282	3.11;3.18;3.13;3.11	5.78	4.9	0.64082	.	0.139729	0.49305	D	0.000157	T	0.12860	0.0312	M	0.84082	2.675	0.80722	D	1	P	0.52463	0.953	B	0.35607	0.206	T	0.17837	-1.0356	10	0.35671	T	0.21	.	15.4307	0.75092	0.0:0.933:0.0:0.067	.	3538	P20929	NEBU_HUMAN	Q	3538;3781;3781;3538	ENSP00000386259:R3538Q;ENSP00000380505:R3781Q;ENSP00000416578:R3781Q;ENSP00000172853:R3538Q	ENSP00000172853:R3538Q	R	-	2	0	NEB	152179295	0.437000	0.25593	0.762000	0.31397	0.386000	0.30323	1.109000	0.31135	1.590000	0.49995	0.655000	0.94253	CGG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.433	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	106	0	C	NM_004543		152471049	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	13.11	106	16	SNP	1.000	T	T	152471049	C	T	152471049	3	4	113	1	0	0	0	0	1	0	0	0	10341	652	23	1	14768	1	NEB	2	152471049	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	38512164	152471049	90728324	15	30503											
TFPI	7035	genome.wustl.edu	37	chr2	188348894	188348894	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattgcggagtcagggagttAttcacagcattgagctgggt	9	11	15	6	1	2	1	2	1	0	0	2	4	2	3	0	3	3	3	0	3	1	4			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:188348894A>T	ENST00000233156.3	-	6	879	c.585T>A	c.(583-585)aaT>aaA	p.N195K	TFPI_ENST00000339091.4_Missense_Mutation_p.N195K|TFPI_ENST00000392365.1_Missense_Mutation_p.N195K|TFPI_ENST00000409676.1_Missense_Mutation_p.N195K|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	195					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TCAGGGAGTTATTCACAGCAT	0.378																																																	0													111	112	112					2																	188348894		2203	4300	6503	SO:0001583	missense	0				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.585T>A	2.37:g.188348894A>T	ENSP00000233156:p.Asn195Lys		O95103|Q53TS4	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.N195K	ENST00000233156.3	37	c.585	CCDS2294.1	2	.	.	.	.	.	.	.	.	.	.	A	15.73	2.919790	0.52653	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091	T;T;T;T;T;T	0.64991	0.51;0.51;0.36;-0.1;-0.13;-0.13	5.11	0.105	0.14535	.	1.050840	0.07304	N	0.874672	T	0.58090	0.2098	M	0.64997	1.995	0.09310	N	1	D;D	0.56521	0.976;0.967	P;P	0.47573	0.509;0.55	T	0.47446	-0.9117	10	0.07325	T	0.83	.	7.4728	0.27359	0.6385:0.0:0.3615:0.0	.	195;195	P10646-2;P10646	.;TFPI1_HUMAN	K	195;195;195;182;195;195	ENSP00000376172:N195K;ENSP00000233156:N195K;ENSP00000397248:N195K;ENSP00000409177:N182K;ENSP00000386344:N195K;ENSP00000342306:N195K	ENSP00000233156:N195K	N	-	3	2	TFPI	188057139	0.171000	0.23029	0.001000	0.08648	0.004000	0.04260	-0.109000	0.10840	-0.048000	0.13401	-0.256000	0.11100	AAT	TFPI	-	pirsf_Prot_inhib_I2_TFPI	ENSG00000003436		0.378	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI	HGNC	protein_coding	OTTHUMT00000255881.1	-	0	32	0	A	NM_006287		188348894	-1	tier1	-	no_errors	ENST00000233156	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.003	T	T	188348894	A	T	188348894	3	4	113	1	0	0	0	0	1	0	0	0	15855	446	16	5	473	5	TFPI	2	188348894	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	35877845	188348894	54850479	16	30504											
DNAH7	56171	genome.wustl.edu	37	chr2	196749416	196749416	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaatttaaacgtatttcGagttcgatctgaaattggac	12	15	8	6	3	1	1	0	1	1	0	3	4	1	2	0	1	1	3	0	1	5	7			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:196749416G>A	ENST00000312428.6	-	35	5756	c.5656C>T	c.(5656-5658)Cga>Tga	p.R1886*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1886			R -> Q (in dbSNP:rs13034775).		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						AACGTATTTCGAGTTCGATCT	0.353																																																	0													123	115	117					2																	196749416		1884	4103	5987	SO:0001587	stop_gained	0			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.5656C>T	2.37:g.196749416G>A	ENSP00000311273:p.Arg1886*		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R1886*	ENST00000312428.6	37	c.5656	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	43	10.372560	0.99393	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.67	4.68	0.58851	.	0.325278	0.26753	N	0.022671	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4775	0.50306	0.0:0.0:0.6411:0.3589	.	.	.	.	X	1886	.	ENSP00000311273:R1886X	R	-	1	2	DNAH7	196457661	0.998000	0.40836	0.978000	0.43139	0.062000	0.15995	4.283000	0.58977	2.820000	0.97059	0.655000	0.94253	CGA	DNAH7	-	NULL	ENSG00000118997		0.353	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0	33	0	G	NM_018897		196749416	-1			no_errors	ENST00000312428	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	0.995	A	A	196749416	G	A	196749416	4	1	113	1	0	0	0	0	0	1	0	0	4620	1066	37	1	6542	1	DNAH7	2	196749416	Nonsense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	8400522	196749416	46449957	17	30505											
HDAC4	9759	genome.wustl.edu	37	chr2	239990219	239990219	+	Frame_Shift_Del	DEL	G	G	-																															ttgtagcccccaagaggggtGgggtggccctccacggcatc																										TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:239990219delG	ENST00000345617.3	-	23	3611	c.2820delC	c.(2818-2820)cccfs	p.P940fs	AC017028.2_ENST00000578555.1_RNA|AC017028.5_ENST00000582834.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.4_ENST00000577359.1_RNA|AC017028.10_ENST00000579161.1_RNA|AC017028.9_ENST00000581111.1_RNA|AC017028.3_ENST00000584260.1_RNA|HDAC4_ENST00000543185.1_Frame_Shift_Del_p.P524fs|AC017028.6_ENST00000577291.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	940	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CAAGAGGGGTGGGGTGGCCCT	0.602																																																	0													74	72	73					2																	239990219		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2820delC	2.37:g.239990219delG	ENSP00000264606:p.Pro940fs		Q9UND6	Frame_Shift_Del	DEL	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.T941fs	ENST00000345617.3	37	c.2820	CCDS2529.1	2																																																																																			HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.602	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2		0	29	0	G	NM_006037		239990219	-1	tier1		no_errors	ENST00000345617	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	0.986	-	-	239990219	G	-	239990219	7	5	113	1	0	1	0	1	0	0	0	0	7036	1335	47	0	454	0	HDAC4	2	239990219	Frame_Shift_Del	DEL	G	TCGA-LN-A4A3-01A-11D-A27G-09	43240803	239990219	3209154	18	30506											
TMF1	7110	genome.wustl.edu	37	chr3	69088134	69088134	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattttctctatgttgtttCtcaacctcttctttgccatc	6	21	3	11	0	4	0	1	0	4	0	7	0	4	0	2	0	2	2	2	0	3	8			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr3:69088134C>T	ENST00000398559.2	-	7	2070	c.1854G>A	c.(1852-1854)gaG>gaA	p.E618E	CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000543976.1_Silent_p.E621E			P82094	TMF1_HUMAN	TATA element modulatory factor 1	618					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)		TATGTTGTTTCTCAACCTCTT	0.333																																																	0													120	107	111					3																	69088134		1817	4065	5882	SO:0001819	synonymous_variant	0				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.1854G>A	3.37:g.69088134C>T			B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.E621	ENST00000398559.2	37	c.1863	CCDS43105.1	3																																																																																			TMF1	-	NULL	ENSG00000144747		0.333	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	-	0	35	0	C	NM_007114		69088134	-1	tier1	-	no_errors	ENST00000543976	ensembl	human	known	74_37	silent	18.18	18	4	SNP	1.000	T	T	69088134	C	T	69088134	2	4	113	1	0	0	0	0	0	0	0	1	16275	912	32	3		3	TMF1	3	69088134	Silent	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09		69088134	128934296	19	30507											
MME	4311	genome.wustl.edu	37	chr3	154886358	154886358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaactttaaggagcaatccCagtgcatggtgtatcagtat	12	12	10	7	0	1	0	1	0	0	0	2	1	2	1	1	2	3	5	1	2	5	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr3:154886358C>A	ENST00000460393.1	+	19	1978	c.1858C>A	c.(1858-1860)Cag>Aag	p.Q620K	MME_ENST00000462745.1_Missense_Mutation_p.Q620K|MME_ENST00000493237.1_Missense_Mutation_p.Q620K|MME_ENST00000492661.1_Missense_Mutation_p.Q620K|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.Q620K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	620					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)	GGAGCAATCCCAGTGCATGGT	0.393																																																	0													125	119	121					3																	154886358		2203	4300	6503	SO:0001583	missense	0				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.1858C>A	3.37:g.154886358C>A	ENSP00000418525:p.Gln620Lys		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.Q620K	ENST00000460393.1	37	c.1858	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832496	0.32421	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.25	2.13	0.27403	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.247105	0.41097	N	0.000950	T	0.69851	0.3157	N	0.20530	0.585	0.53005	D	0.999966	B	0.06786	0.001	B	0.12156	0.007	T	0.61964	-0.6954	10	0.42905	T	0.14	-5.4048	10.9072	0.47086	0.148:0.4957:0.3562:0.0	.	620	P08473	NEP_HUMAN	K	620	ENSP00000420389:Q620K;ENSP00000418525:Q620K;ENSP00000419653:Q620K;ENSP00000417079:Q620K;ENSP00000353679:Q620K	ENSP00000353679:Q620K	Q	+	1	0	MME	156369052	0.977000	0.34250	0.622000	0.29159	0.883000	0.51084	2.542000	0.45744	0.510000	0.28216	0.650000	0.86243	CAG	MME	-	pfam_Peptidase_M13_C	ENSG00000196549		0.393	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	-	0	71	0	C	NM_000902		154886358	1	tier1	-	no_errors	ENST00000360490	ensembl	human	known	74_37	missense	10.34	78	9	SNP	0.871	A	A	154886358	C	A	154886358	3	1	113	1	0	0	0	0	1	0	0	0	9683	595	21	3	1928	3	MME	3	154886358	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	85798224	154886358	43136072	20	30508											
LRRC34	151827	genome.wustl.edu	37	chr3	169526464	169526464	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtatatgcaatataaaaGgattaattttctgggatttt	14	16	9	2	0	1	0	0	0	1	0	1	3	1	3	0	3	1	2	0	3	7	9			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr3:169526464G>C	ENST00000316515.7	-	2	446	c.170C>G	c.(169-171)cCt>cGt	p.P57R	LRRC34_ENST00000524327.1_5'Flank|LRRC34_ENST00000522830.1_Missense_Mutation_p.P9R|LRRC34_ENST00000446859.1_Missense_Mutation_p.P70R|LRRC34_ENST00000522526.2_Missense_Mutation_p.P70R	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	57										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CAATATAAAAGGATTAATTTT	0.299																																																	0													41	43	42					3																	169526464		2189	4283	6472	SO:0001583	missense	0			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.170C>G	3.37:g.169526464G>C	ENSP00000326150:p.Pro57Arg		B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P70R	ENST00000316515.7	37	c.209		3	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478949	0.44044	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	T;T;T;T	0.50813	0.85;0.73;0.95;0.73	5.01	2.12	0.27331	.	0.640517	0.17555	N	0.170006	T	0.54581	0.1867	L	0.58101	1.795	0.09310	N	1	P;P;P;D;P	0.54772	0.868;0.664;0.851;0.968;0.933	B;B;P;P;B	0.54401	0.312;0.117;0.576;0.751;0.391	T	0.48007	-0.9072	10	0.62326	D	0.03	-1.5335	10.9522	0.47336	0.0:0.0:0.504:0.496	.	57;9;9;70;57	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	R	70;57;9;70	ENSP00000414635:P70R;ENSP00000326150:P57R;ENSP00000429593:P9R;ENSP00000429278:P70R	ENSP00000326150:P57R	P	-	2	0	LRRC34	171009158	0.384000	0.25164	0.006000	0.13384	0.288000	0.27193	0.903000	0.28475	0.335000	0.23614	0.561000	0.74099	CCT	LRRC34	-	NULL	ENSG00000171757		0.299	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	HGNC	protein_coding		-	0	57	0	G	NM_153353		169526464	-1	tier1	-	no_errors	ENST00000446859	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.009	C	C	169526464	G	C	169526464	3	2	113	1	0	0	0	0	1	0	0	0	9024	1000	35	5	1247	5	LRRC34	3	169526464	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	14640106	169526464	28495966	21	30509											
CHRD	8646	genome.wustl.edu	37	chr3	184106703	184106703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgcctcactgtgagcGggatgactgttcactgccac	7	9	14	11	1	2	2	2	2	0	0	2	3	2	3	2	3	3	1	2	3	0	1	rs372347094		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr3:184106703G>A	ENST00000204604.1	+	22	2978	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q	CHRD_ENST00000545352.1_Missense_Mutation_p.R453Q|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.R871Q|CHRD_ENST00000450923.1_Missense_Mutation_p.R911Q	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	911	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)	p.R911Q(1)		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)			CACTGTGAGCGGGATGACTGT	0.622																																																	1	Substitution - Missense(1)	lung(1)						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	104	91	96		2732	4.9	1	3		96	0,8600		0,0,4300	no	missense	CHRD	NM_003741.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	911/956	184106703	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2732G>A	3.37:g.184106703G>A	ENSP00000204604:p.Arg911Gln		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.R911Q	ENST00000204604.1	37	c.2732	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460362	0.84317	2.27E-4	0.0	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.93	4.93	0.64822	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	T	0.78477	0.4289	M	0.77406	2.37	0.26521	N	0.974434	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.984;0.996;0.992;0.997	T	0.72462	-0.4286	10	0.66056	D	0.02	-24.7512	13.6767	0.62458	0.0:0.0:1.0:0.0	.	453;871;911;911	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	Q	911;911;871;453	ENSP00000204604:R911Q;ENSP00000408972:R911Q;ENSP00000334036:R871Q;ENSP00000442948:R453Q	ENSP00000204604:R911Q	R	+	2	0	CHRD	185589397	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.184000	0.65070	2.273000	0.75805	0.655000	0.94253	CGG	CHRD	-	smart_VWF_C,pirsf_Chordin	ENSG00000090539		0.622	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	-	0	51	0	G	NM_003741		184106703	1	tier1	-	no_errors	ENST00000204604	ensembl	human	known	74_37	missense	41.89	43	31	SNP	1.000	A	A	184106703	G	A	184106703	3	1	113	1	0	0	0	0	1	0	0	0	3379	1116	39	1	2818	1	CHRD	3	184106703	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	14580239	184106703	13915727	22	30510											
MUC4	4585	genome.wustl.edu	37	chr3	195505314	195505314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccgtctgtcttcagtgacGgtgttgtcattcctggacac	6	13	10	12	2	4	1	2	1	2	0	5	2	5	2	2	2	0	1	2	2	0	3	rs142178516		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr3:195505314G>A	ENST00000346145.4	-	2	134	c.95C>T	c.(94-96)cCg>cTg	p.P32L	MUC4_ENST00000475231.1_Missense_Mutation_p.P4268L|MUC4_ENST00000463781.3_Missense_Mutation_p.P4268L|MUC4_ENST00000349607.4_Intron	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1025					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTTCAGTGACGGTGTTGTCAT	0.517																																																	0								G	LEU/PRO,LEU/PRO,	1,4401	2.1+/-5.4	0,1,2200	168	141	150		95,12803,	0.6	0	3	dbSNP_134	150	0,8582		0,0,4291	no	missense,missense,intron	MUC4	NM_004532.5,NM_018406.6,NM_138297.4	98,98,	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,	32/1177,4268/5413,	195505314	1,12983	2201	4291	6492	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.95C>T	3.37:g.195505314G>A	ENSP00000304207:p.Pro32Leu		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P4268L	ENST00000346145.4	37	c.12803	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	g	12.72	2.023304	0.35701	2.27E-4	0.0	ENSG00000145113	ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T	0.32988	1.55;1.43;1.46	3.53	0.622	0.17648	.	2.192890	0.02278	N	0.069081	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	P;B;P	0.36660	0.493;0.003;0.564	B;B;B	0.25506	0.03;0.001;0.061	T	0.14559	-1.0468	10	0.02654	T	1	-0.02	2.782	0.05363	0.2468:0.0:0.5298:0.2234	.	4140;1025;32	E7ESK3;Q99102;Q99102-13	.;MUC4_HUMAN;.	L	32;4268;4268;994	ENSP00000304207:P32L;ENSP00000417498:P4268L;ENSP00000420243:P4268L	ENSP00000304207:P32L	P	-	2	0	MUC4	196990093	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.862000	0.27899	0.112000	0.17975	0.633000	0.83428	CCG	MUC4	-	NULL	ENSG00000145113		0.517	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	-	0	49	0	G	NM_018406		195505314	-1	tier1	rs142178516	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	21.74	90	25	SNP	0.000	A	A	195505314	G	A	195505314	3	1	113	1	0	0	0	0	1	0	0	0	10016	1116	39	1	3527	1	MUC4	3	195505314	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	11398611	195505314	2517116	23	30511											
ARAP2	116984	genome.wustl.edu	37	chr4	36214868	36214868	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtatgggactaaccttGgaattttctagtctctggaa	12	14	9	6	0	2	0	0	0	2	0	3	3	2	3	1	3	1	1	1	3	6	6			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr4:36214868G>T	ENST00000303965.4	-	4	1527	c.1038C>A	c.(1036-1038)tcC>tcA	p.S346S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	346					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						GACTAACCTTGGAATTTTCTA	0.348																																																	0													66	70	69					4																	36214868		2203	4296	6499	SO:0001819	synonymous_variant	0			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.1038C>A	4.37:g.36214868G>T			Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.S346	ENST00000303965.4	37	c.1038	CCDS3441.1	4																																																																																			ARAP2	-	NULL	ENSG00000047365		0.348	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0	50	0	G	NM_015230		36214868	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T	T	36214868	G	T	36214868	2	4	113	1	0	0	0	0	0	0	0	1	839	1335	47	3		3	ARAP2	4	36214868	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09		36214868	154939408	24	30512											
EPHA5	2044	genome.wustl.edu	37	chr4	66213881	66213881	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtaaactttcggaaagctAttgcttctggggcagtccat	11	12	10	8	1	1	0	0	0	1	0	3	1	2	1	1	3	3	4	1	3	5	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr4:66213881A>C	ENST00000273854.3	-	15	3149	c.2549T>G	c.(2548-2550)aTa>aGa	p.I850R	EPHA5_ENST00000511294.1_Missense_Mutation_p.I851R|EPHA5_ENST00000354839.4_Missense_Mutation_p.I828R|EPHA5_ENST00000432638.2_Missense_Mutation_p.I687R	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	850	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						TCGGAAAGCTATTGCTTCTGG	0.413										TSP Lung(17;0.13)																																							0													136	133	134					4																	66213881		2203	4300	6503	SO:0001583	missense	0			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.2549T>G	4.37:g.66213881A>C	ENSP00000273854:p.Ile850Arg		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I850R	ENST00000273854.3	37	c.2549	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656087	0.88056	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.86	5.86	0.93980	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	0.000002	D	0.94202	0.8139	M	0.93106	3.38	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.997;1.0	D;D;D;D	0.97110	0.976;1.0;0.959;1.0	D	0.95395	0.8485	10	0.87932	D	0	.	16.2507	0.82485	1.0:0.0:0.0:0.0	.	829;851;828;850	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	R	850;687;828;851	ENSP00000273854:I850R;ENSP00000389208:I687R;ENSP00000346899:I828R;ENSP00000427638:I851R	ENSP00000273854:I850R	I	-	2	0	EPHA5	65896476	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.339000	0.96797	2.237000	0.73441	0.528000	0.53228	ATA	EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000145242		0.413	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0	54	0	A	NM_004439		66213881	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	C	C	66213881	A	C	66213881	3	2	113	1	0	0	0	0	1	0	0	0	5186	449	16	4	580	4	EPHA5	4	66213881	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	29999013	66213881	124940395	25	30513											
ADAMTS3	9508	genome.wustl.edu	37	chr4	73169747	73169747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaaggtccgcgacttggcttCctcccctttgccatttaaaa	8	12	8	13	2	0	0	0	0	0	0	3	2	3	0	5	2	1	1	5	2	3	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr4:73169747C>G	ENST00000286657.4	-	17	2347	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	771	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GACTTGGCTTCCTCCCCTTTG	0.388																																					NSCLC(168;1941 2048 2918 13048 43078)												0													188	189	189					4																	73169747		2203	4300	6503	SO:0001583	missense	0			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.2311G>C	4.37:g.73169747C>G	ENSP00000286657:p.Glu771Gln		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.E771Q	ENST00000286657.4	37	c.2311	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011871	0.54468	.	.	ENSG00000156140	ENST00000286657	T	0.51817	0.69	5.57	5.57	0.84162	ADAM-TS Spacer 1 (1);	0.061993	0.64402	D	0.000005	T	0.62122	0.2402	L	0.55990	1.75	0.58432	D	0.999999	D	0.53151	0.958	P	0.57720	0.826	T	0.59936	-0.7360	10	0.46703	T	0.11	.	19.5589	0.95364	0.0:1.0:0.0:0.0	.	771	O15072	ATS3_HUMAN	Q	771	ENSP00000286657:E771Q	ENSP00000286657:E771Q	E	-	1	0	ADAMTS3	73388611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.730000	0.84881	2.623000	0.88846	0.655000	0.94253	GAA	ADAMTS3	-	pfam_ADAM_spacer1	ENSG00000156140		0.388	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2		0	64	0	C			73169747	-1			no_errors	ENST00000286657	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	G	G	73169747	C	G	73169747	3	3	113	1	0	0	0	0	1	0	0	0	267	864	30	5	1330	5	ADAMTS3	4	73169747	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	6955866	73169747	117984529	26	30514											
TLR2	7097	genome.wustl.edu	37	chr4	154625944	154625944	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcctggctccaggccaaaAggaagcccaggaaagctccc	11	3	13	14	0	0	0	0	0	0	0	2	2	2	2	5	5	2	2	5	5	4	0			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr4:154625944A>G	ENST00000260010.6	+	1	3293	c.1885A>G	c.(1885-1887)Agg>Ggg	p.R629G		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	629					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|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 cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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 biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CCAGGCCAAAAGGAAGCCCAG	0.542																																																	0													37	36	36					4																	154625944		2203	4300	6503	SO:0001583	missense	0			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1885A>G	4.37:g.154625944A>G	ENSP00000260010:p.Arg629Gly		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.R629G	ENST00000260010.6	37	c.1885	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	A	13.04	2.119565	0.37436	.	.	ENSG00000137462	ENST00000260010	T	0.33438	1.41	5.65	3.16	0.36331	.	0.055790	0.64402	D	0.000001	T	0.58836	0.2150	M	0.88640	2.97	0.42933	D	0.994328	D	0.62365	0.991	D	0.65684	0.937	T	0.66838	-0.5822	10	0.87932	D	0	.	13.6794	0.62474	0.5497:0.4503:0.0:0.0	.	629	O60603	TLR2_HUMAN	G	629	ENSP00000260010:R629G	ENSP00000260010:R629G	R	+	1	2	TLR2	154845394	0.687000	0.27671	0.837000	0.33122	0.901000	0.52897	1.100000	0.31025	0.401000	0.25424	0.533000	0.62120	AGG	TLR2	-	pirsf_Toll-like_receptor	ENSG00000137462		0.542	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	-	0	64	0	A			154625944	1	tier1	-	no_errors	ENST00000260010	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.912	G	G	154625944	A	G	154625944	3	3	113	1	0	0	0	0	1	0	0	0	15998	63	3	4	1887	4	TLR2	4	154625944	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	81456197	154625944	36528332	27	30515											
SPEF2	79925	genome.wustl.edu	37	chr5	35695845	35695845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctattgctaggtgctaatGctgataaaacaccaaaagct	14	11	7	9	0	0	1	0	1	0	0	1	1	1	1	2	1	5	4	2	1	7	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr5:35695845G>T	ENST00000356031.3	+	14	2138	c.1984G>T	c.(1984-1986)Gct>Tct	p.A662S	SPEF2_ENST00000509059.1_Missense_Mutation_p.A657S|SPEF2_ENST00000440995.2_Missense_Mutation_p.A657S|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	662					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)			AGGTGCTAATGCTGATAAAAC	0.323																																																	0													122	111	114					5																	35695845		1838	4092	5930	SO:0001583	missense	0			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.1984G>T	5.37:g.35695845G>T	ENSP00000348314:p.Ala662Ser		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.A662S	ENST00000356031.3	37	c.1984	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	0.905	-0.721016	0.03182	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.29142	3.38;3.32;3.46;1.58	4.89	-1.56	0.08532	.	1.105250	0.06829	N	0.793692	T	0.12008	0.0292	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.33420	-0.9869	10	0.08381	T	0.77	.	9.0452	0.36343	0.5249:0.0:0.4751:0.0	.	657;657;662	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	S	662;657;657;168	ENSP00000348314:A662S;ENSP00000421593:A657S;ENSP00000412125:A657S;ENSP00000421744:A168S	ENSP00000348314:A662S	A	+	1	0	SPEF2	35731602	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.065000	0.14466	-0.351000	0.08249	-0.302000	0.09304	GCT	SPEF2	-	superfamily_P-loop_NTPase	ENSG00000152582		0.323	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	66	0	G	NM_144722		35695845	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.000	T	T	35695845	G	T	35695845	3	4	113	1	0	0	0	0	1	0	0	0	15082	1319	46	3	2059	3	SPEF2	5	35695845	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09		35695845	145219415	28	30516											
RASGRF2	5924	genome.wustl.edu	37	chr5	80382767	80382767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagccaaacgttcatccGccaaggtaagtccctgtgaa	12	7	8	14	2	1	1	1	1	0	0	3	1	3	1	5	1	2	2	5	1	4	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr5:80382767G>A	ENST00000265080.4	+	9	1452	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	462					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)		ACGTTCATCCGCCAAGGTAAG	0.547																																																	0													131	117	122					5																	80382767		2203	4300	6503	SO:0001583	missense	0			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.1385G>A	5.37:g.80382767G>A	ENSP00000265080:p.Arg462His		B9EG89|Q9UK56	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R462H	ENST00000265080.4	37	c.1385	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.547429	0.96488	.	.	ENSG00000113319	ENST00000265080	T	0.31510	1.49	5.72	5.72	0.89469	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.69654	0.965;0.929	T	0.63726	-0.6572	10	0.87932	D	0	.	19.8765	0.96875	0.0:0.0:1.0:0.0	.	462;462	D6RAS9;O14827	.;RGRF2_HUMAN	H	462	ENSP00000265080:R462H	ENSP00000265080:R462H	R	+	2	0	RASGRF2	80418523	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.695000	0.91970	0.650000	0.86243	CGC	RASGRF2	-	smart_Pleckstrin_homology	ENSG00000113319		0.547	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	-	0	46	0	G	NM_006909		80382767	1	tier1	-	no_errors	ENST00000265080	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	A	A	80382767	G	A	80382767	3	1	113	1	0	0	0	0	1	0	0	0	13118	1087	38	1	1419	1	RASGRF2	5	80382767	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	44686922	80382767	100532493	29	30517											
GPR98	84059	genome.wustl.edu	37	chr5	90024645	90024645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattcagatggtctggcagtGggtttattaactttcaagag	10	15	11	5	0	3	2	2	0	1	2	3	2	3	2	0	3	1	2	0	3	4	6			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr5:90024645G>T	ENST00000405460.2	+	49	10417	c.10321G>T	c.(10321-10323)Ggg>Tgg	p.G3441W		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3441					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)		GTCTGGCAGTGGGTTTATTAA	0.453																																																	0													84	82	82					5																	90024645		1897	4107	6004	SO:0001583	missense	0			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.10321G>T	5.37:g.90024645G>T	ENSP00000384582:p.Gly3441Trp		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G3441W	ENST00000405460.2	37	c.10321	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	8.969	0.972520	0.18736	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27720	1.65	5.6	2.79	0.32731	.	0.690281	0.15233	N	0.273314	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	P;P	0.49358	0.761;0.923	B;B	0.42343	0.174;0.384	T	0.07404	-1.0774	10	0.66056	D	0.02	.	5.9129	0.19039	0.2142:0.2675:0.5183:0.0	.	3441;3441	E7ETI5;Q8WXG9	.;GPR98_HUMAN	W	3441	ENSP00000384582:G3441W	ENSP00000296619:G3441W	G	+	1	0	GPR98	90060401	0.075000	0.21258	0.000000	0.03702	0.022000	0.10575	1.043000	0.30316	0.291000	0.22468	0.655000	0.94253	GGG	GPR98	-	pfscan_EAR	ENSG00000164199		0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0	97	0	G	NM_032119		90024645	1			no_errors	ENST00000405460	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.001	T	T	90024645	G	T	90024645	3	4	113	1	0	0	0	0	1	0	0	0	6748	1348	47	3	10515	3	GPR98	5	90024645	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	9641878	90024645	90890615	30	30518											
ZNF608	57507	genome.wustl.edu	37	chr5	123984497	123984497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtagtgggagtgcttctgGaatttgtgcggacacgcttt	6	13	16	6	2	1	0	0	0	1	0	1	3	1	3	0	4	2	3	0	4	2	4			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr5:123984497G>T	ENST00000306315.5	-	4	2015	c.1580C>A	c.(1579-1581)tCc>tAc	p.S527Y	ZNF608_ENST00000504926.1_Missense_Mutation_p.S100Y	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	527							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGTGCTTCTGGAATTTGTGCG	0.512																																																	0													133	128	130					5																	123984497		2203	4300	6503	SO:0001583	missense	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1580C>A	5.37:g.123984497G>T	ENSP00000307746:p.Ser527Tyr		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.S527Y	ENST00000306315.5	37	c.1580	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743129	0.89663	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.55930	0.49;0.53	5.26	5.26	0.73747	.	0.226724	0.47093	D	0.000256	T	0.72969	0.3527	M	0.73217	2.22	0.58432	D	0.999999	D	0.71674	0.998	D	0.76071	0.987	T	0.76152	-0.3064	10	0.87932	D	0	-16.3852	18.87	0.92309	0.0:0.0:1.0:0.0	.	527	Q9ULD9	ZN608_HUMAN	Y	100;527;527;527	ENSP00000427657:S100Y;ENSP00000307746:S527Y	ENSP00000307746:S527Y	S	-	2	0	ZNF608	124012396	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.847000	0.99503	2.456000	0.83038	0.544000	0.68410	TCC	ZNF608	-	NULL	ENSG00000168916		0.512	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	-	0	78	0	G	XM_114432		123984497	-1	tier1	-	no_errors	ENST00000306315	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	123984497	G	T	123984497	3	4	113	1	0	0	0	0	1	0	0	0	18082	1174	41	3	2982	3	ZNF608	5	123984497	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	33959852	123984497	56930763	31	30519											
RPS14	6208	genome.wustl.edu	37	chr5	149827255	149827255	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaggtccgaggctgatGacctgttcttccttcttttc	5	15	9	12	1	2	3	0	3	2	0	5	4	4	3	4	2	0	2	4	2	0	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr5:149827255G>T	ENST00000401695.3	-	2	88	c.42C>A	c.(40-42)gtC>gtA	p.V14V	RPS14_ENST00000407193.1_Silent_p.V14V|RPS14_ENST00000312037.5_Silent_p.V14V			P62263	RS14_HUMAN	ribosomal protein S14	14					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGGCTGATGACCTGTTCTT	0.438																																																	0													137	120	126					5																	149827255		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"S ribosomal proteins"	10387	protein-coding gene	gene with protein product	"emetine resistance", "40S ribosomal protein S14"	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.42C>A	5.37:g.149827255G>T			B2R5G5|D3DQG5|P06366|Q5BJI0	Silent	SNP	pfam_Ribosomal_S11,pirsf_Ribosomal_S11	p.V14	ENST00000401695.3	37	c.42	CCDS4307.1	5																																																																																			RPS14	-	pirsf_Ribosomal_S11	ENSG00000164587		0.438	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS14	HGNC	protein_coding	OTTHUMT00000252373.1	-	0	54	0	G	NM_001025071		149827255	-1	tier1	-	no_errors	ENST00000312037	ensembl	human	known	74_37	silent	37.78	28	17	SNP	1.000	T	T	149827255	G	T	149827255	2	4	113	1	0	0	0	0	0	0	0	1	13669	1277	45	3		3	RPS14	5	149827255	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	25842758	149827255	31088005	32	30520											
SOX30	11063	genome.wustl.edu	37	chr5	157075856	157075856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccataaatgcgttcatgggtCgcttcacatgaccatttctg	9	13	8	11	2	3	1	2	1	1	0	4	1	3	1	2	1	1	2	2	1	2	4			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr5:157075856C>T	ENST00000265007.6	-	2	1357	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	SOX30_ENST00000519442.1_Missense_Mutation_p.R34Q|SOX30_ENST00000311371.5_Missense_Mutation_p.R339Q	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	339					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)			GTTCATGGGTCGCTTCACATG	0.458																																					Esophageal Squamous(31;525 799 19355 21125 41744)												0													168	148	155					5																	157075856		2203	4300	6503	SO:0001583	missense	0			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.1016G>A	5.37:g.157075856C>T	ENSP00000265007:p.Arg339Gln		O94995|Q8IYX6	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R339Q	ENST00000265007.6	37	c.1016	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.194808	0.94960	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.99298	-5.71;-5.71;-5.71	5.72	5.72	0.89469	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000015	D	0.99548	0.9838	M	0.90309	3.105	0.48395	D	0.999649	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.98479	1.0604	10	0.87932	D	0	.	19.8724	0.96855	0.0:1.0:0.0:0.0	.	34;339;339	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	Q	339;339;34	ENSP00000309343:R339Q;ENSP00000265007:R339Q;ENSP00000427984:R34Q	ENSP00000265007:R339Q	R	-	2	0	SOX30	157008434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.448000	0.73469	2.694000	0.91930	0.555000	0.69702	CGA	SOX30	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000039600		0.458	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	HGNC	protein_coding	OTTHUMT00000252571.2	-	0	69	0	C	NM_007017		157075856	-1	tier1	-	no_errors	ENST00000265007	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	157075856	C	T	157075856	3	4	113	1	0	0	0	0	1	0	0	0	14997	884	31	1	1261	1	SOX30	5	157075856	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	7248601	157075856	23839404	33	30521											
KIF13A	63971	genome.wustl.edu	37	chr6	17849622	17849622	+	Silent	SNP	G	G	T	0	0	1	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	ccttacttgttaatgttgctGccttctttcagtcgctctcc	4	18	6	13	1	3	0	1	0	2	0	5	0	3	0	3	0	3	4	3	0	2	6			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr6:17849622G>T	ENST00000259711.6	-	9	921	c.816C>A	c.(814-816)ggC>ggA	p.G272G	KIF13A_ENST00000378816.5_Silent_p.G272G|KIF13A_ENST00000378843.2_Silent_p.G272G|KIF13A_ENST00000378826.2_Silent_p.G272G|KIF13A_ENST00000378814.5_Silent_p.G272G	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	272	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TAATGTTGCTGCCTTCTTTCA	0.493																																																	0													111	103	106					6																	17849622		1907	4137	6044	SO:0001819	synonymous_variant	0			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.816C>A	6.37:g.17849622G>T			A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G272	ENST00000259711.6	37	c.816	CCDS47381.1	6																																																																																			KIF13A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000137177		0.493	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	-	0	73	0	G			17849622	-1	tier1	-	no_errors	ENST00000259711	ensembl	human	known	74_37	silent	6.45	58	4	SNP	1.000	T	T	17849622	G	T	17849622	2	4	113	1	0	0	0	0	0	0	0	1	8301	1306	46	3		3	KIF13A	6	17849622	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09		17849622	153265445	34	30522											
FAM135A	57579	genome.wustl.edu	37	chr6	71236246	71236246	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gtctgtacttctggttgtttGtccttcccgtctgcaccacg	3	16	9	13	2	3	0	0	0	3	0	5	0	5	0	3	1	2	4	3	1	1	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr6:71236246G>T	ENST00000418814.2	+	15	4073	c.3459G>T	c.(3457-3459)ttG>ttT	p.L1153F	FAM135A_ENST00000505769.1_Missense_Mutation_p.L733F|FAM135A_ENST00000370479.3_Missense_Mutation_p.L940F|FAM135A_ENST00000505868.1_Missense_Mutation_p.L1153F|FAM135A_ENST00000457062.2_Missense_Mutation_p.L940F|FAM135A_ENST00000361499.3_Missense_Mutation_p.L957F	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1153										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTGGTTGTTTGTCCTTCCCGT	0.368																																																	0													182	186	185					6																	71236246		2203	4300	6503	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3459G>T	6.37:g.71236246G>T	ENSP00000410768:p.Leu1153Phe		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.L1153F	ENST00000418814.2	37	c.3459	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175848	0.57692	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.32515	1.75;1.73;1.45;1.73;1.72;1.72	5.96	3.18	0.36537	.	0.091944	0.45606	D	0.000342	T	0.33904	0.0879	L	0.58101	1.795	0.36738	D	0.882055	D;D;D;D	0.89917	0.999;0.997;1.0;1.0	D;D;D;D	0.87578	0.977;0.952;0.998;0.996	T	0.27020	-1.0086	10	0.87932	D	0	.	7.1462	0.25585	0.141:0.0:0.7206:0.1384	.	1153;1153;957;940	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	F	1153;940;733;940;957;1153	ENSP00000410768:L1153F;ENSP00000359510:L940F;ENSP00000423785:L733F;ENSP00000409201:L940F;ENSP00000354913:L957F;ENSP00000423307:L1153F	ENSP00000354913:L957F	L	+	3	2	FAM135A	71292967	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	2.436000	0.44819	0.390000	0.25115	-0.140000	0.14226	TTG	FAM135A	-	NULL	ENSG00000082269		0.368	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2		0	44	0	G	NM_020819		71236246	1			no_errors	ENST00000418814	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	71236246	G	T	71236246	3	4	113	1	0	0	0	0	1	0	0	0	5467	1368	48	3	3587	3	FAM135A	6	71236246	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	53386624	71236246	99878821	35	30523											
SENP6	26054	genome.wustl.edu	37	chr6	76412676	76412676	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaataaatcatactgcGagtgaaaatgaagaattcaa	23	8	6	4	1	2	3	2	2	0	1	2	4	2	3	0	0	2	0	0	0	11	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr6:76412676G>T	ENST00000447266.2	+	19	3082	c.2604G>T	c.(2602-2604)gcG>gcT	p.A868A	SENP6_ENST00000370010.2_Silent_p.A861A|SENP6_ENST00000370014.3_Silent_p.A868A|SENP6_ENST00000541192.1_Intron	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	868	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCATACTGCGAGTGAAAATG	0.358																																																	0													134	134	134					6																	76412676		1836	4090	5926	SO:0001819	synonymous_variant	0				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.2604G>T	6.37:g.76412676G>T			A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.A868	ENST00000447266.2	37	c.2604	CCDS47454.1	6																																																																																			SENP6	-	pfscan_Peptidase_C48	ENSG00000112701		0.358	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2		0	21	0	G	NM_015571		76412676	1			no_errors	ENST00000370014	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.160	T	T	76412676	G	T	76412676	2	4	113	1	0	0	0	0	0	0	0	1	14095	1045	37	2		2	SENP6	6	76412676	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	5176430	76412676	94702391	36	30524											
BCLAF1	9774	genome.wustl.edu	37	chr6	136596731	136596731	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactctgaagtgcttttgctGgcctgtggcaacttaatgtg	7	14	12	8	0	1	1	0	1	1	0	1	2	1	1	1	2	3	3	1	2	3	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr6:136596731G>T	ENST00000531224.1	-	6	2043	c.1791C>A	c.(1789-1791)gcC>gcA	p.A597A	BCLAF1_ENST00000527536.1_Silent_p.A597A|BCLAF1_ENST00000527759.1_Silent_p.A595A|BCLAF1_ENST00000530767.1_Silent_p.A424A|BCLAF1_ENST00000353331.4_Silent_p.A595A|BCLAF1_ENST00000392348.2_Silent_p.A595A	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	597					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)		TGCTTTTGCTGGCCTGTGGCA	0.398																																					Colon(142;1534 1789 5427 7063 28491)												0													209	190	196					6																	136596731		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1791C>A	6.37:g.136596731G>T			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.A597	ENST00000531224.1	37	c.1791	CCDS5177.1	6																																																																																			BCLAF1	-	NULL	ENSG00000029363		0.398	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2		0	135	0	G	NM_014739		136596731	-1			no_errors	ENST00000531224	ensembl	human	known	74_37	silent	8.57	95	9	SNP	1.000	T	T	136596731	G	T	136596731	2	4	113	1	0	0	0	0	0	0	0	1	1384	1335	47	3		3	BCLAF1	6	136596731	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	60184055	136596731	34518336	37	30525											
CITED2	10370	genome.wustl.edu	37	chr6	139694663	139694663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatctggtggcctgcagcaGggtgcaaatccggcatgtag	8	9	14	10	1	2	0	1	0	1	0	3	0	3	0	2	4	3	5	2	4	2	1	rs200447882		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr6:139694663G>T	ENST00000367651.2	-	2	634	c.419C>A	c.(418-420)cCt>cAt	p.P140H	CITED2_ENST00000536159.1_Missense_Mutation_p.P140H|CITED2_ENST00000537332.1_Missense_Mutation_p.P140H	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	140					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)		GCCTGCAGCAGGGTGCAAATC	0.632																																					NSCLC(98;1219 1550 33720 43229 49330)												0													118	131	126					6																	139694663		2203	4300	6503	SO:0001583	missense	0			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.419C>A	6.37:g.139694663G>T	ENSP00000356623:p.Pro140His		O95426|Q5VTF4	Missense_Mutation	SNP	pfam_CITED	p.P140H	ENST00000367651.2	37	c.419	CCDS5195.1	6	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637146	0.47049	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.65549	-0.16;-0.16;-0.16	3.86	3.86	0.44501	.	0.448361	0.19242	N	0.119123	T	0.59500	0.2198	L	0.44542	1.39	0.54753	D	0.999986	D	0.56968	0.978	P	0.62089	0.898	T	0.56805	-0.7918	9	.	.	.	-0.0285	11.6638	0.51363	0.0:0.0:1.0:0.0	.	140	Q99967	CITE2_HUMAN	H	140	ENSP00000356623:P140H;ENSP00000442831:P140H;ENSP00000444198:P140H	.	P	-	2	0	CITED2	139736356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.623000	0.61247	2.484000	0.83849	0.456000	0.33151	CCT	CITED2	-	pfam_CITED	ENSG00000164442		0.632	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CITED2	HGNC	protein_coding	OTTHUMT00000042463.1	-	0	45	0	G			139694663	-1	tier1	-	no_errors	ENST00000367651	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	139694663	G	T	139694663	3	4	113	1	0	0	0	0	1	0	0	0	3447	1000	35	3	397	3	CITED2	6	139694663	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	3097932	139694663	31420404	38	30526											
IGF2R	3482	genome.wustl.edu	37	chr6	160471650	160471650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cagacagaccacatataccaCgaggatccatctcgtctgct	12	8	7	14	2	2	2	0	0	2	2	4	4	3	3	3	1	2	1	3	1	2	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr6:160471650C>T	ENST00000356956.1	+	19	2808	c.2660C>T	c.(2659-2661)aCg>aTg	p.T887M		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	887					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)	ACATATACCACGAGGATCCAT	0.582																																																	0													71	60	63					6																	160471650		2203	4300	6503	SO:0001583	missense	0			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.2660C>T	6.37:g.160471650C>T	ENSP00000349437:p.Thr887Met		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.T887M	ENST00000356956.1	37	c.2660	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189552	0.57909	.	.	ENSG00000197081	ENST00000356956	T	0.05382	3.45	5.27	5.27	0.74061	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	M	0.90814	3.15	0.50813	D	0.999893	D	0.89917	1.0	D	0.81914	0.995	T	0.02844	-1.1103	10	0.87932	D	0	-25.2575	13.6552	0.62333	0.0:0.8453:0.1547:0.0	.	887	P11717	MPRI_HUMAN	M	887	ENSP00000349437:T887M	ENSP00000349437:T887M	T	+	2	0	IGF2R	160391640	1.000000	0.71417	0.616000	0.29078	0.302000	0.27658	5.112000	0.64634	2.469000	0.83416	0.491000	0.48974	ACG	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.582	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0	56	0	C	NM_000876		160471650	1	tier1	-	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	26.83	30	11	SNP	0.147	T	T	160471650	C	T	160471650	3	4	113	1	0	0	0	0	1	0	0	0	7603	536	19	1	2734	1	IGF2R	6	160471650	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	20776987	160471650	10643417	39	30527											
HDAC9	9734	genome.wustl.edu	37	chr7	18674352	18674352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacttcggttttgccccctaCccctcatgccgaggtaagac	7	10	9	15	2	1	1	1	0	0	1	2	3	1	1	5	2	3	2	5	2	2	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:18674352C>T	ENST00000432645.2	+	7	890	c.890C>T	c.(889-891)aCc>aTc	p.T297I	HDAC9_ENST00000524023.1_Missense_Mutation_p.T220I|HDAC9_ENST00000417496.2_Missense_Mutation_p.T295I|HDAC9_ENST00000406072.1_Missense_Mutation_p.T284I|HDAC9_ENST00000441542.2_Missense_Mutation_p.T300I|HDAC9_ENST00000405010.3_Missense_Mutation_p.T297I|HDAC9_ENST00000428307.2_Missense_Mutation_p.T253I|HDAC9_ENST00000401921.1_Missense_Mutation_p.T256I|HDAC9_ENST00000456174.2_Missense_Mutation_p.T269I|HDAC9_ENST00000406451.4_Missense_Mutation_p.T297I	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	297	Interaction with MAPK10. {ECO:0000250}.				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)	TTGCCCCCTACCCCTCATGCC	0.423																																																	0													73	72	73					7																	18674352		1859	4093	5952	SO:0001583	missense	0			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.890C>T	7.37:g.18674352C>T	ENSP00000410337:p.Thr297Ile		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.T300I	ENST00000432645.2	37	c.899	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743237	0.30865	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.57907	0.91;0.95;0.39;0.91;0.91;0.37;0.39;0.39;0.96;0.91	5.71	5.71	0.89125	.	0.222920	0.31221	N	0.008030	T	0.43077	0.1231	N	0.12182	0.205	0.41971	D	0.990758	B;P;P;P;B;P;B;P;B;B;B;B;P;P	0.51351	0.435;0.716;0.571;0.704;0.435;0.944;0.201;0.902;0.302;0.242;0.201;0.302;0.813;0.704	B;B;B;B;B;P;B;P;B;B;B;B;B;B	0.53146	0.077;0.146;0.238;0.152;0.12;0.719;0.069;0.498;0.117;0.157;0.069;0.117;0.281;0.302	T	0.27571	-1.0070	10	0.24483	T	0.36	-20.6911	9.6224	0.39730	0.2984:0.5816:0.12:0.0	.	220;269;297;284;295;297;300;256;300;297;269;297;297;275	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	I	295;298;297;297;253;284;256;297;300;269;220;297	ENSP00000401669:T295I;ENSP00000384382:T297I;ENSP00000384657:T297I;ENSP00000395655:T253I;ENSP00000384017:T284I;ENSP00000383912:T256I;ENSP00000410337:T297I;ENSP00000408617:T300I;ENSP00000388568:T269I;ENSP00000430036:T220I	ENSP00000262069:T298I	T	+	2	0	HDAC9	18640877	0.998000	0.40836	0.998000	0.56505	0.322000	0.28314	1.726000	0.38085	2.706000	0.92434	0.650000	0.86243	ACC	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.423	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0	124	0	C			18674352	1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	missense	18.40	102	23	SNP	1.000	T	T	18674352	C	T	18674352	3	4	113	1	0	0	0	0	1	0	0	0	7041	507	18	3	925	3	HDAC9	7	18674352	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09		18674352	140464311	40	30528											
NFE2L3	9603	genome.wustl.edu	37	chr7	26225269	26225269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatttttagtagattaagaGatgaccaaggtaggccagtc	14	12	10	5	0	0	3	0	1	0	2	1	4	0	3	2	2	0	2	2	2	6	7			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:26225269G>A	ENST00000056233.3	+	4	2210	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	651					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						TAGATTAAGAGATGACCAAGG	0.408																																																	0													103	101	102					7																	26225269		2203	4300	6503	SO:0001583	missense	0			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.1951G>A	7.37:g.26225269G>A	ENSP00000056233:p.Asp651Asn		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.D651N	ENST00000056233.3	37	c.1951	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015253	0.93404	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.55760	0.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.76378	0.3979	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.78119	-0.2328	10	0.62326	D	0.03	-25.2697	19.6091	0.95594	0.0:0.0:1.0:0.0	.	651	Q9Y4A8	NF2L3_HUMAN	N	651;356	ENSP00000056233:D651N	ENSP00000056233:D651N	D	+	1	0	NFE2L3	26191794	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.743000	0.98849	2.738000	0.93877	0.591000	0.81541	GAT	NFE2L3	-	NULL	ENSG00000050344		0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	-	0	45	0	G			26225269	1	tier1	-	no_errors	ENST00000056233	ensembl	human	known	74_37	missense	20.83	57	15	SNP	1.000	A	A	26225269	G	A	26225269	3	1	113	1	0	0	0	0	1	0	0	0	10408	942	33	3	1965	3	NFE2L3	7	26225269	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	7550917	26225269	132913394	41	30529											
GLI3	2737	genome.wustl.edu	37	chr7	42004063	42004063	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccgaggcgtggtgaggcgGgaggagctatgggaaaggtt	8	6	21	6	3	0	1	0	1	0	0	0	5	0	4	1	7	1	2	1	7	2	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:42004063G>A	ENST00000395925.3	-	15	4692	c.4608C>T	c.(4606-4608)tcC>tcT	p.S1536S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1536					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1536S(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGTGAGGCGGGAGGAGCTAT	0.582									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								1	Substitution - coding silent(1)	large_intestine(1)											100	96	98					7																	42004063		2203	4300	6503	SO:0001819	synonymous_variant	0	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.4608C>T	7.37:g.42004063G>A			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1536	ENST00000395925.3	37	c.4608	CCDS5465.1	7																																																																																			GLI3	-	NULL	ENSG00000106571		0.582	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0	63	0	G	NM_000168		42004063	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	silent	34.25	48	25	SNP	0.995	A	A	42004063	G	A	42004063	2	1	113	1	0	0	0	0	0	0	0	1	6465	1219	43	3		3	GLI3	7	42004063	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	15778794	42004063	117134600	42	30530											
ZNF804B	219578	genome.wustl.edu	37	chr7	88965762	88965762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttctcctgacgaaataGataaatataagatcctacag	16	12	5	8	1	1	3	0	1	1	2	3	4	2	3	2	0	1	0	2	0	7	7			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:88965762G>T	ENST00000333190.4	+	4	4075	c.3466G>T	c.(3466-3468)Gat>Tat	p.D1156Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1156							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGACGAAATAGATAAATATAA	0.428										HNSCC(36;0.09)																																							0													53	55	54					7																	88965762		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3466G>T	7.37:g.88965762G>T	ENSP00000329638:p.Asp1156Tyr		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.D1156Y	ENST00000333190.4	37	c.3466	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078010	0.76528	.	.	ENSG00000182348	ENST00000333190	T	0.09911	2.93	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000004	T	0.34454	0.0898	M	0.69823	2.125	0.54753	D	0.99998	D	0.89917	1.0	D	0.76575	0.988	T	0.04495	-1.0947	10	0.87932	D	0	-22.5229	18.8132	0.92065	0.0:0.0:1.0:0.0	.	1156	A4D1E1	Z804B_HUMAN	Y	1156	ENSP00000329638:D1156Y	ENSP00000329638:D1156Y	D	+	1	0	ZNF804B	88803698	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.166000	0.94766	2.736000	0.93811	0.655000	0.94253	GAT	ZNF804B	-	NULL	ENSG00000182348		0.428	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2		0	42	0	G	NM_181646		88965762	1			no_errors	ENST00000333190	ensembl	human	known	74_37	missense	10.61	59	7	SNP	1.000	T	T	88965762	G	T	88965762	3	4	113	1	0	0	0	0	1	0	0	0	18219	942	33	3	3480	3	ZNF804B	7	88965762	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	46961699	88965762	70172901	43	30531											
DOCK4	9732	genome.wustl.edu	37	chr7	111509684	111509684	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttctgtgatccggtccacGtaccatttgagcactttgat	7	14	9	11	2	1	3	0	3	1	0	3	3	3	3	3	1	2	3	3	1	1	4	rs200120389		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:111509684G>T	ENST00000437633.1	-	21	2311	c.2055C>A	c.(2053-2055)taC>taA	p.Y685*	DOCK4_ENST00000428084.1_Nonsense_Mutation_p.Y685*|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	685					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)	p.Y673*(1)|p.Y685*(1)		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)				TCCGGTCCACGTACCATTTGA	0.423																																																	2	Substitution - Nonsense(2)	endometrium(2)											151	134	140					7																	111509684		1973	4168	6141	SO:0001587	stop_gained	0				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.2055C>A	7.37:g.111509684G>T	ENSP00000404179:p.Tyr685*		O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.Y685*	ENST00000437633.1	37	c.2055	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.616712|5.616712	0.96649|0.96649	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|.	.|.	.|.	5.3|5.3	-9.47|-9.47	0.00594|0.00594	.|.	.|0.320500	.|0.34750	.|N	.|0.003717	T|.	0.33904|.	0.0879|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48127|.	-0.9062|.	4|.	.|0.02654	.|T	.|1	.|.	16.0849|16.0849	0.81038|0.81038	0.4039:0.0:0.5961:0.0|0.4039:0.0:0.5961:0.0	.|.	.|.	.|.	.|.	K|X	137;673|673;685;685;673;684	.|.	.|ENSP00000345432:Y673X	T|Y	-|-	2|3	0|2	DOCK4|DOCK4	111296920|111296920	0.872000|0.872000	0.30054|0.30054	0.654000|0.654000	0.29608|0.29608	0.978000|0.978000	0.69477|0.69477	0.089000|0.089000	0.15002|0.15002	-2.119000|-2.119000	0.00827|0.00827	-1.126000|-1.126000	0.01995|0.01995	ACG|TAC	DOCK4	-	NULL	ENSG00000128512		0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4		0	51	0	G	NM_014705		111509684	-1			no_errors	ENST00000428084	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.935	T	T	111509684	G	T	111509684	4	4	113	1	0	0	0	0	0	1	0	0	4703	1140	40	2	3973	2	DOCK4	7	111509684	Nonsense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	22543922	111509684	47628979	44	30532											
C7orf49	78996	genome.wustl.edu	37	chr7	134853654	134853654	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaggaccctcgttttagtCtcggattgtaaggtttccat	8	14	11	8	2	1	0	0	0	1	0	4	3	2	3	2	4	0	3	2	4	3	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:134853654C>G	ENST00000393114.3	-	2	202	c.21G>C	c.(19-21)gaG>gaC	p.E7D	C7orf49_ENST00000430372.1_5'UTR|C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000424142.1_5'UTR|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000483029.2_Intron			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	7						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TCGTTTTAGTCTCGGATTGTA	0.483											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													100	88	92					7																	134853654		692	1591	2283	SO:0001583	missense	0			BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"modulator of retrovirus infection"					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.21G>C	7.37:g.134853654C>G	ENSP00000376823:p.Glu7Asp	1613	Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	NULL	p.E7D	ENST00000393114.3	37	c.21	CCDS5838.2	7	.	.	.	.	.	.	.	.	.	.	C	9.339	1.062416	0.19987	.	.	ENSG00000122783	ENST00000393114	.	.	.	4.21	2.37	0.29283	.	.	.	.	.	T	0.23171	0.0560	N	0.19112	0.55	0.19300	N	0.999977	B	0.09022	0.002	B	0.08055	0.003	T	0.24083	-1.0170	8	0.18276	T	0.48	-0.0952	5.1454	0.14981	0.2021:0.6896:0.0:0.1082	.	7	Q9BWK5	MRI_HUMAN	D	7	.	ENSP00000376823:E7D	E	-	3	2	C7orf49	134504194	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-0.570000	0.05895	0.415000	0.25817	0.205000	0.17691	GAG	C7orf49	-	NULL	ENSG00000122783		0.483	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf49	HGNC	protein_coding	OTTHUMT00000340145.1		0	34	0	C	NM_024033		134853654	-1			no_errors	ENST00000393114	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.001	G	G	134853654	C	G	134853654	3	3	113	1	0	0	0	0	1	0	0	0	2405	912	32	5	464	5	C7orf49	7	134853654	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	23343970	134853654	24285009	45	30533											
CHD7	55636	genome.wustl.edu	37	chr8	61763057	61763057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggcacggcacaggctatGagaagtacaactccatgcga	13	6	12	10	2	0	1	0	1	0	1	1	3	1	1	1	3	3	4	1	3	4	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr8:61763057G>A	ENST00000423902.2	+	26	5889	c.5410G>A	c.(5410-5412)Gag>Aag	p.E1804K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1804					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E1804*(2)		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)			CACAGGCTATGAGAAGTACAA	0.527																																																	2	Substitution - Nonsense(2)	lung(2)											45	49	48					8																	61763057		2100	4215	6315	SO:0001583	missense	0			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.5410G>A	8.37:g.61763057G>A	ENSP00000392028:p.Glu1804Lys		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1804K	ENST00000423902.2	37	c.5410	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.754787	0.96890	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.91124	-2.79	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.96087	0.8725	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.96447	0.9331	10	0.87932	D	0	-24.9522	19.3689	0.94477	0.0:0.0:1.0:0.0	.	1804	Q9P2D1	CHD7_HUMAN	K	1804	ENSP00000392028:E1804K	ENSP00000307304:E1804K	E	+	1	0	CHD7	61925611	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.579000	0.87056	0.650000	0.86243	GAG	CHD7	-	NULL	ENSG00000171316		0.527	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0	91	0	G	XM_098762		61763057	1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	missense	9.46	67	7	SNP	1.000	A	A	61763057	G	A	61763057	3	1	113	1	0	0	0	0	1	0	0	0	3337	1291	45	3	5508	3	CHD7	8	61763057	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09		61763057	84600965	46	30534											
ADHFE1	137872	genome.wustl.edu	37	chr8	67372632	67372632	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattcgatctggatgttgatGatggcctagcagctgttggt	7	15	13	6	1	1	2	0	2	1	0	2	4	1	3	1	3	2	4	1	3	2	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr8:67372632G>C	ENST00000396623.3	+	13	1283	c.1252G>C	c.(1252-1254)Gat>Cat	p.D418H	ADHFE1_ENST00000415254.1_Missense_Mutation_p.D370H|ADHFE1_ENST00000496501.1_3'UTR|C8orf46_ENST00000482608.2_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	418					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)			GGATGTTGATGATGGCCTAGC	0.557											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													112	105	107					8																	67372632		2203	4300	6503	SO:0001583	missense	0			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.1252G>C	8.37:g.67372632G>C	ENSP00000379865:p.Asp418His	1099	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	pfam_ADH_Fe	p.D418H	ENST00000396623.3	37	c.1252	CCDS6190.2	8	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083101	0.76642	.	.	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.42900	0.96;0.96	5.71	2.97	0.34412	Alcohol dehydrogenase, iron-type (1);	0.092649	0.64402	D	0.000001	T	0.58163	0.2103	M	0.67953	2.075	0.80722	D	1	D	0.57899	0.981	D	0.68943	0.961	T	0.55692	-0.8101	10	0.51188	T	0.08	-12.2688	10.9338	0.47233	0.1903:0.0:0.8097:0.0	.	418	Q8IWW8	HOT_HUMAN	H	418;370	ENSP00000379865:D418H;ENSP00000407115:D370H	ENSP00000379865:D418H	D	+	1	0	ADHFE1	67535186	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	4.090000	0.57693	0.350000	0.24002	0.563000	0.77884	GAT	ADHFE1	-	pfam_ADH_Fe	ENSG00000147576		0.557	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADHFE1	HGNC	protein_coding	OTTHUMT00000316867.3	-	0	58	0	G	NM_144650		67372632	1	tier1	-	no_errors	ENST00000396623	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	C	C	67372632	G	C	67372632	3	2	113	1	0	0	0	0	1	0	0	0	314	1290	45	5	1302	5	ADHFE1	8	67372632	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	5609575	67372632	78991390	47	30535											
FAM164A	51101	genome.wustl.edu	37	chr8	79609678	79609678	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaagtcaaattctcctGgaactgcatcatcaggatct	14	12	6	9	0	5	0	3	0	2	0	6	2	5	2	1	2	2	1	1	2	5	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr8:79609678G>T	ENST00000263849.4	+	6	643	c.541G>T	c.(541-543)Gga>Tga	p.G181*	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	181							metal ion binding (GO:0046872)										AAATTCTCCTGGAACTGCATC	0.368																																																	0													70	70	70					8																	79609678		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.541G>T	8.37:g.79609678G>T	ENSP00000263849:p.Gly181*		Q9Y372	Nonsense_Mutation	SNP	NULL	p.G181*	ENST00000263849.4	37	c.541	CCDS6223.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.066946|6.066946	0.97251|0.97251	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	.|.	.|.	.|.	5.48|5.48	4.59|4.59	0.56863|0.56863	.|.	0.370184|.	0.30911|.	N|.	0.008632|.	.|T	.|0.69079	.|0.3071	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66866	.|-0.5815	.|4	.|.	.|.	.|.	-14.9524|-14.9524	14.0325|14.0325	0.64624|0.64624	0.073:0.0:0.927:0.0|0.073:0.0:0.927:0.0	.|.	.|.	.|.	.|.	X|L	181|13	.|.	.|.	G|W	+|+	1|2	0|0	FAM164A|FAM164A	79772233|79772233	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.848000|3.848000	0.55903|0.55903	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GGA|TGG	ZC2HC1A	-	NULL	ENSG00000104427		0.368	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1A	HGNC	protein_coding	OTTHUMT00000379423.2		0	49	0	G	NM_016010		79609678	1			no_errors	ENST00000263849	ensembl	human	known	74_37	nonsense	5.56	51	3	SNP	0.997	T	T	79609678	G	T	79609678	4	4	113	1	0	0	0	0	0	1	0	0	5497	1349	47	3	563	3	FAM164A	8	79609678	Nonsense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	12237046	79609678	66754344	48	30536											
ADCY8	114	genome.wustl.edu	37	chr8	131922004	131922004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaatatccacatcccaagaCcagacatcaaactgccactt	15	7	4	15	0	1	2	1	0	0	2	3	2	3	2	4	0	2	1	4	0	4	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr8:131922004C>G	ENST00000286355.5	-	6	3682	c.1590G>C	c.(1588-1590)tgG>tgC	p.W530C	ADCY8_ENST00000377928.3_Missense_Mutation_p.W530C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	530					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)			CATCCCAAGACCAGACATCAA	0.468										HNSCC(32;0.087)																																							0													271	226	242					8																	131922004		2203	4300	6503	SO:0001583	missense	0			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.1590G>C	8.37:g.131922004C>G	ENSP00000286355:p.Trp530Cys			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.W530C	ENST00000286355.5	37	c.1590	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.182419	0.94885	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.84070	-1.8;-1.8;-1.8	5.93	5.93	0.95920	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;0.986	D;P	0.91635	0.999;0.766	D	0.97298	0.9929	10	0.87932	D	0	.	19.3421	0.94347	0.0:1.0:0.0:0.0	.	530;530	E7EVL1;P40145	.;ADCY8_HUMAN	C	530;530;145	ENSP00000286355:W530C;ENSP00000367161:W530C;ENSP00000428010:W145C	ENSP00000286355:W530C	W	-	3	0	ADCY8	131991186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	TGG	ADCY8	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000155897		0.468	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	78	0	C			131922004	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	18.39	71	16	SNP	1.000	G	G	131922004	C	G	131922004	3	3	113	1	0	0	0	0	1	0	0	0	300	508	18	5	2217	5	ADCY8	8	131922004	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	52312326	131922004	14442018	49	30537											
KIAA1539	80256	genome.wustl.edu	37	chr9	35106349	35106349	+	Missense_Mutation	SNP	T	T	A	0	1	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	atgacccactagctccaattTctgctgtgaagccctcaatg	10	11	7	13	0	2	2	1	2	1	0	3	2	3	2	3	0	3	2	3	0	4	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr9:35106349T>A	ENST00000378561.1	-	5	4173	c.1118A>T	c.(1117-1119)gAa>gTa	p.E373V	FAM214B_ENST00000378557.1_Missense_Mutation_p.E373V|FAM214B_ENST00000378554.2_Missense_Mutation_p.E373V|FAM214B_ENST00000322813.5_Missense_Mutation_p.E373V|FAM214B_ENST00000378566.1_Missense_Mutation_p.E68V|FAM214B_ENST00000603301.1_Missense_Mutation_p.E373V|FAM214B_ENST00000605244.1_Missense_Mutation_p.E373V|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000488109.2_Missense_Mutation_p.E373V			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	373						nucleus (GO:0005634)											AGCTCCAATTTCTGCTGTGAA	0.522																																																	0													102	92	95					9																	35106349		2203	4300	6503	SO:0001583	missense	0			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.1118A>T	9.37:g.35106349T>A	ENSP00000367823:p.Glu373Val		B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	NULL	p.E373V	ENST00000378561.1	37	c.1118	CCDS6578.1	9	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993416	0.74703	.	.	ENSG00000005238	ENST00000378566;ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.76392	0.3981	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77078	-0.2721	9	0.49607	T	0.09	-19.6286	15.2318	0.73395	0.0:0.0:0.0:1.0	.	373	Q7L5A3	K1539_HUMAN	V	68;373;373;373;373	.	ENSP00000319897:E373V	E	-	2	0	KIAA1539	35096349	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.446000	0.80609	2.269000	0.75478	0.533000	0.62120	GAA	FAM214B	-	NULL	ENSG00000005238		0.522	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1		0	42	0	T	NM_025182		35106349	-1			no_errors	ENST00000322813	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	35106349	T	A	35106349	3	1	113	1	0	0	0	0	1	0	0	0	8269	1783	62	5	514	5	KIAA1539	9	35106349	Missense_Mutation	SNP	T	TCGA-LN-A4A3-01A-11D-A27G-09		35106349	106107082	50	30538											
TEX10	54881	genome.wustl.edu	37	chr9	103092356	103092356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgcaatccttctgcaaaGttgacgcatttgccagggag	11	10	10	10	1	1	1	0	1	1	0	2	2	2	2	2	1	4	4	2	1	3	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr9:103092356G>T	ENST00000374902.4	-	6	1522	c.1346C>A	c.(1345-1347)aCt>aAt	p.T449N	TEX10_ENST00000537512.1_Missense_Mutation_p.T384N|TEX10_ENST00000535814.1_Missense_Mutation_p.T452N	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	449						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)		CTTCTGCAAAGTTGACGCATT	0.393																																																	0													142	133	136					9																	103092356		2203	4300	6503	SO:0001583	missense	0			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.1346C>A	9.37:g.103092356G>T	ENSP00000364037:p.Thr449Asn		B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.T449N	ENST00000374902.4	37	c.1346	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960364	0.74016	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235;ENST00000537512	.	.	.	5.18	5.18	0.71444	Armadillo-type fold (1);	0.440966	0.26574	N	0.023610	T	0.66336	0.2779	L	0.29908	0.895	0.45946	D	0.998772	P;D;D;P	0.89917	0.895;0.994;1.0;0.956	B;P;D;P	0.85130	0.43;0.795;0.997;0.527	T	0.61510	-0.7048	9	0.25106	T	0.35	-11.9562	19.0747	0.93156	0.0:0.0:1.0:0.0	.	384;452;317;449	B7Z9D5;B4DYV2;E7ERG2;Q9NXF1	.;.;.;TEX10_HUMAN	N	452;449;317;94;384	.	ENSP00000364037:T449N	T	-	2	0	TEX10	102132177	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.462000	0.80851	2.575000	0.86900	0.655000	0.94253	ACT	TEX10	-	superfamily_ARM-type_fold	ENSG00000136891		0.393	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	-	0	77	0	G	NM_017746		103092356	-1	tier1	-	no_errors	ENST00000374902	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	103092356	G	T	103092356	3	4	113	1	0	0	0	0	1	0	0	0	15819	1029	36	3	1483	3	TEX10	9	103092356	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	67986007	103092356	38121075	51	30539											
WDR37	22884	genome.wustl.edu	37	chr10	1142172	1142172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgccgacaccccagcctGttgctgacactagtgtaagc	9	8	10	14	1	0	1	0	1	0	0	0	2	0	1	4	0	5	4	4	0	2	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:1142172G>T	ENST00000358220.1	+	9	856	c.712G>T	c.(712-714)Gtt>Ttt	p.V238F	WDR37_ENST00000263150.4_Missense_Mutation_p.V238F|WDR37_ENST00000381329.1_Missense_Mutation_p.V238F			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	238										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)		ACCCCAGCCTGTTGCTGACAC	0.488																																																	0													124	107	113					10																	1142172		2203	4300	6503	SO:0001583	missense	0			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.712G>T	10.37:g.1142172G>T	ENSP00000350954:p.Val238Phe		A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V238F	ENST00000358220.1	37	c.712	CCDS7057.1	10	.	.	.	.	.	.	.	.	.	.	G	0.099	-1.154408	0.01700	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;T;T;T	0.74209	-0.08;-0.74;-0.08;-0.82	5.5	0.21	0.15231	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.636690	0.16961	N	0.192491	T	0.49525	0.1562	N	0.14661	0.345	0.09310	N	1	B;B;B	0.29805	0.0;0.0;0.257	B;B;B	0.21151	0.0;0.0;0.033	T	0.29671	-1.0004	10	0.19147	T	0.46	.	8.7622	0.34680	0.7306:0.0:0.2694:0.0	.	238;238;238	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	F	238;238;238;205	ENSP00000350954:V238F;ENSP00000370730:V238F;ENSP00000263150:V238F;ENSP00000404346:V205F	ENSP00000263150:V238F	V	+	1	0	WDR37	1132172	0.605000	0.26941	0.002000	0.10522	0.198000	0.23893	2.098000	0.41757	0.008000	0.14787	0.643000	0.83706	GTT	WDR37	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000047056		0.488	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR37	HGNC	protein_coding	OTTHUMT00000046418.1	-	0	71	0	G	NM_014023		1142172	1	tier1	-	no_errors	ENST00000263150	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.002	T	T	1142172	G	T	1142172	3	4	113	1	0	0	0	0	1	0	0	0	17340	1377	48	3	742	3	WDR37	10	1142172	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09		1142172	134392575	52	30540											
GDF2	2658	genome.wustl.edu	37	chr10	48413931	48413931	+	Missense_Mutation	SNP	T	T	A	0	1	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	ccttttccgcctggctaaagTcgaccccgcagccacgtggc	6	8	10	17	4	0	0	0	0	0	0	2	1	1	0	6	2	1	2	6	2	2	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:48413931T>A	ENST00000249598.1	-	2	1096	c.937A>T	c.(937-939)Act>Tct	p.T313S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	313					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|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)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CTGGCTAAAGTCGACCCCGCA	0.612																																																	0													57	54	55					10																	48413931		2203	4300	6503	SO:0001583	missense	0			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.937A>T	10.37:g.48413931T>A	ENSP00000249598:p.Thr313Ser		Q5VSQ9|Q9Y571	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.T313S	ENST00000249598.1	37	c.937	CCDS7219.1	10	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.863253	0.00552	.	.	ENSG00000128802	ENST00000249598	T	0.77358	-1.09	5.46	1.73	0.24493	.	0.976806	0.08489	N	0.938291	T	0.35653	0.0939	N	0.00246	-1.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39702	-0.9601	10	0.06625	T	0.88	.	2.6437	0.04978	0.5034:0.2763:0.0765:0.1439	.	313	Q9UK05	GDF2_HUMAN	S	313	ENSP00000249598:T313S	ENSP00000249598:T313S	T	-	1	0	GDF2	48033937	0.108000	0.22018	0.000000	0.03702	0.018000	0.09664	-0.260000	0.08708	0.040000	0.15660	-0.691000	0.03719	ACT	GDF2	-	NULL	ENSG00000128802		0.612	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	HGNC	protein_coding	OTTHUMT00000047891.1	-	0	56	0	T	NM_016204		48413931	-1	tier1	-	no_errors	ENST00000249598	ensembl	human	known	74_37	missense	27.08	35	13	SNP	0.000	A	A	48413931	T	A	48413931	3	1	113	1	0	0	0	0	1	0	0	0	6340	1667	58	5	356	5	GDF2	10	48413931	Missense_Mutation	SNP	T	TCGA-LN-A4A3-01A-11D-A27G-09	47271759	48413931	87120816	53	30541											
LIPJ	142910	genome.wustl.edu	37	chr10	90366476	90366476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaacatgaatgtggcaactGcaatttggaatggtaaaagt	16	10	10	5	0	0	1	0	1	0	0	0	2	0	2	0	3	3	3	0	3	7	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:90366476G>A	ENST00000371939.3	+	11	1227	c.913G>A	c.(913-915)Gca>Aca	p.A305T		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	305					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TGTGGCAACTGCAATTTGGAA	0.323																																																	0													85	84	84					10																	90366476		2203	4300	6503	SO:0001583	missense	0			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"lipase-like, ab-hydrolase domain containing 1", "lipase, family member J"	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.913G>A	10.37:g.90366476G>A	ENSP00000361007:p.Ala305Thr		A8MT98|Q0P671	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.A305T	ENST00000371939.3	37	c.913	CCDS31240.1	10	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163714	0.78226	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	T;T	0.70399	-0.48;-0.48	5.55	3.69	0.42338	Alpha/beta hydrolase fold-1 (1);	0.500307	0.16666	N	0.204595	T	0.81128	0.4758	M	0.76433	2.335	0.09310	N	0.999999	D	0.63046	0.992	D	0.66716	0.946	T	0.70641	-0.4816	10	0.66056	D	0.02	-28.2034	9.7315	0.40363	0.0744:0.0:0.7849:0.1407	.	305	Q5W064	LIPJ_HUMAN	T	305;120	ENSP00000361007:A305T;ENSP00000434211:A120T	ENSP00000361007:A305T	A	+	1	0	LIPJ	90356456	0.767000	0.28508	0.005000	0.12908	0.393000	0.30537	3.493000	0.53266	0.701000	0.31803	0.655000	0.94253	GCA	LIPJ	-	pfam_AB_hydrolase_1	ENSG00000204022		0.323	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPJ	HGNC	protein_coding	OTTHUMT00000049248.2	-	0	57	0	G	XM_084377		90366476	1	tier1	-	no_errors	ENST00000371939	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.391	A	A	90366476	G	A	90366476	3	1	113	1	0	0	0	0	1	0	0	0	8856	1319	46	3	947	3	LIPJ	10	90366476	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	41952545	90366476	45168271	54	30542											
PPRC1	23082	genome.wustl.edu	37	chr10	103901475	103901475	+	Silent	SNP	G	G	T	0	0	1	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	ccccatccgaaacacaaggtGtctgccctggtgcaaagtcc	10	7	9	15	1	1	0	0	0	1	0	3	1	3	0	5	2	3	1	5	2	3	0			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:103901475G>T	ENST00000278070.2	+	5	3249	c.3210G>T	c.(3208-3210)gtG>gtT	p.V1070V	PPRC1_ENST00000413464.2_Silent_p.V1070V|PPRC1_ENST00000370012.1_Silent_p.V37V	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1070	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AACACAAGGTGTCTGCCCTGG	0.567																																																	0													107	87	94					10																	103901475		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3210G>T	10.37:g.103901475G>T			Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V1070	ENST00000278070.2	37	c.3210	CCDS7529.1	10																																																																																			PPRC1	-	NULL	ENSG00000148840		0.567	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	-	0	33	0	G	NM_015062		103901475	1	tier1	-	no_errors	ENST00000278070	ensembl	human	known	74_37	silent	33.33	12	6	SNP	0.000	T	T	103901475	G	T	103901475	2	4	113	1	0	0	0	0	0	0	0	1	12452	1364	48	3		3	PPRC1	10	103901475	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	13534999	103901475	31633272	55	30543											
ATRNL1	26033	genome.wustl.edu	37	chr10	117075177	117075177	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattggaatgcaccacagtGagatggttcttgacaccaat	12	12	9	8	0	1	2	0	2	1	1	1	4	1	3	2	2	1	2	2	2	3	4			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:117075177G>T	ENST00000355044.3	+	18	3094	c.2968G>T	c.(2968-2970)Gag>Tag	p.E990*	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.E87*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	990	PSI 5.				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)		GCACCACAGTGAGATGGTTCT	0.418																																																	0													129	119	122					10																	117075177		2203	4300	6503	SO:0001587	stop_gained	0			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.2968G>T	10.37:g.117075177G>T	ENSP00000347152:p.Glu990*		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.E990*	ENST00000355044.3	37	c.2968	CCDS7592.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.468397|5.468397	0.96274|0.96274	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.092903|.	0.64402|.	D|.	0.000001|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.30078|.	T|.	0.28|.	-8.6523|-8.6523	19.0432|19.0432	0.93010|0.93010	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	990;87|119	.|.	ENSP00000347152:E990X|.	E|X	+|+	1|2	0|2	ATRNL1|ATRNL1	117065167|117065167	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.860000|0.860000	0.49131|0.49131	9.338000|9.338000	0.96553|0.96553	2.510000|2.510000	0.84645|0.84645	0.455000|0.455000	0.32223|0.32223	GAG|TGA	ATRNL1	-	pfam_Plexin_repeat,smart_Plexin-like_fold	ENSG00000107518		0.418	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0	58	0	G	XM_049349		117075177	1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	T	T	117075177	G	T	117075177	4	4	113	1	0	0	0	0	0	1	0	0	1208	1291	45	3	3038	3	ATRNL1	10	117075177	Nonsense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	13173702	117075177	18459570	56	30544											
C10orf90	118611	genome.wustl.edu	37	chr10	128192578	128192578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagttggttggcatgatcGctggcgtgacaatgagttgt	8	12	15	6	2	0	3	0	3	0	0	1	4	0	3	0	3	0	5	0	3	1	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:128192578G>T	ENST00000284694.7	-	3	1311	c.1191C>A	c.(1189-1191)agC>agA	p.S397R	C10orf90_ENST00000454341.1_Missense_Mutation_p.S397R|C10orf90_ENST00000544758.1_Missense_Mutation_p.S494R|C10orf90_ENST00000356858.3_Missense_Mutation_p.S350R|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.S350R	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	397					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGGCATGATCGCTGGCGTGAC	0.483											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													202	144	164					10																	128192578		2203	4300	6503	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1191C>A	10.37:g.128192578G>T	ENSP00000284694:p.Ser397Arg	1563	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.S494R	ENST00000284694.7	37	c.1482	CCDS31310.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.800|9.800	1.180376|1.180376	0.21787|0.21787	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000424927|ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	.|T;T;T;T;T	.|0.23950	.|2.21;2.22;2.21;2.21;1.88	5.09|5.09	-6.36|-6.36	0.01969|0.01969	.|.	.|0.724698	.|0.13346	.|N	.|0.394778	T|T	0.11410|0.11410	0.0278|0.0278	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.25809	.|0.112;0.135;0.052;0.112;0.112	.|B;B;B;B;B	.|0.24974	.|0.057;0.041;0.039;0.057;0.057	T|T	0.25152|0.25152	-1.0140|-1.0140	5|10	.|0.25106	.|T	.|0.35	-0.9479|-0.9479	7.6536|7.6536	0.28363|0.28363	0.5203:0.204:0.2757:0.0|0.5203:0.204:0.2757:0.0	.|.	.|494;494;350;397;397	.|F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.|.;.;.;CJ090_HUMAN;.	E|R	37|350;397;397;494;397;350;350	.|ENSP00000284694:S397R;ENSP00000398786:S397R;ENSP00000444369:S494R;ENSP00000405995:S397R;ENSP00000376459:S350R	.|ENSP00000284694:S397R	A|S	-|-	2|3	0|2	C10orf90|C10orf90	128182568|128182568	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.037000|0.037000	0.13140|0.13140	-1.534000|-1.534000	0.02212|0.02212	-0.888000|-0.888000	0.03956|0.03956	-0.781000|-0.781000	0.03364|0.03364	GCG|AGC	C10orf90	-	NULL	ENSG00000154493		0.483	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		-	0	127	0	G	NM_001004298		128192578	-1	tier1	-	no_errors	ENST00000544758	ensembl	human	known	74_37	missense	23.36	105	32	SNP	0.000	T	T	128192578	G	T	128192578	3	4	113	1	0	0	0	0	1	0	0	0	1628	1078	38	2	936	2	C10orf90	10	128192578	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	11117401	128192578	7342169	57	30545											
MKI67	4288	genome.wustl.edu	37	chr10	129902236	129902236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgccctgatgtttgcGtgagcctctcaactgctgag	5	14	11	11	1	1	3	1	3	1	0	2	3	1	3	2	0	6	3	2	0	1	2	rs368793936		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:129902236G>A	ENST00000368654.3	-	13	8243	c.7868C>T	c.(7867-7869)aCg>aTg	p.T2623M	MKI67_ENST00000368653.3_Missense_Mutation_p.T2263M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2623	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)				TGATGTTTGCGTGAGCCTCTC	0.498																																																	0								G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	170	152	158		6788,7868	0.5	0	10		158	0,8600		0,0,4300	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	2263/2897,2623/3257	129902236	2,13004	2203	4300	6503	SO:0001583	missense	0			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.7868C>T	10.37:g.129902236G>A	ENSP00000357643:p.Thr2623Met		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.T2623M	ENST00000368654.3	37	c.7868	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915307	0.33815	4.54E-4	0.0	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02682	4.2;4.2	3.48	0.462	0.16695	.	2.961170	0.01403	N	0.013662	T	0.09642	0.0237	L	0.45581	1.43	0.09310	N	1	D;D;D	0.89917	0.973;1.0;1.0	B;D;D	0.85130	0.362;0.997;0.997	T	0.18304	-1.0341	10	0.46703	T	0.11	.	3.3262	0.07067	0.2543:0.225:0.5207:0.0	.	2622;2263;2623	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	2623;2263;2622	ENSP00000357643:T2623M;ENSP00000357642:T2263M	ENSP00000357642:T2263M	T	-	2	0	MKI67	129792226	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.519000	0.06260	0.253000	0.21552	-0.302000	0.09304	ACG	MKI67	-	pfam_K167R	ENSG00000148773		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	-	0	117	0	G	NM_002417		129902236	-1	tier1	-	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	26.61	91	33	SNP	0.000	A	A	129902236	G	A	129902236	3	1	113	1	0	0	0	0	1	0	0	0	9636	1145	40	1	1914	1	MKI67	10	129902236	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	1709658	129902236	5632511	58	30546											
OR51T1	401665	genome.wustl.edu	37	chr11	4904034	4904034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagaccaagacaatccGccaggctatgttccagctgc	11	8	9	13	1	0	3	0	1	0	2	2	3	2	3	4	1	2	3	4	1	4	3	rs151076376	byFrequency	TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:4904034G>A	ENST00000322049.1	+	1	905	c.905G>A	c.(904-906)cGc>cAc	p.R302H	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.R329H|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R302L(1)|p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGACAATCCGCCAGGCTATG	0.483																																																	2	Substitution - Missense(2)	lung(2)						G	HIS/ARG	0,4402		0,0,2201	93	88	90		986	4	0.9	11	dbSNP_134	90	5,8591	4.3+/-15.6	0,5,4293	yes	missense	OR51T1	NM_001004759.1	29	0,5,6494	AA,AG,GG		0.0582,0.0,0.0385	benign	329/355	4904034	5,12993	2201	4298	6499	SO:0001583	missense	0			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.905G>A	11.37:g.4904034G>A	ENSP00000322679:p.Arg302His		Q6IFH9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R329H	ENST00000322049.1	37	c.986		11	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923538	0.52653	0.0	5.82E-4	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.58358	0.34;0.34	4.97	4.04	0.47022	.	0.322556	0.22730	N	0.056338	T	0.32734	0.0839	N	0.08118	0	0.39490	D	0.968038	B	0.18968	0.032	B	0.12156	0.007	T	0.30001	-0.9993	10	0.72032	D	0.01	.	12.5266	0.56089	0.0833:0.0:0.9167:0.0	.	302	Q8NGJ9	O51T1_HUMAN	H	329;302	ENSP00000369738:R329H;ENSP00000322679:R302H	ENSP00000322679:R302H	R	+	2	0	OR51T1	4860610	0.001000	0.12720	0.947000	0.38551	0.992000	0.81027	0.506000	0.22658	2.595000	0.87683	0.491000	0.48974	CGC	OR51T1	-	prints_GPCR_Rhodpsn	ENSG00000176900		0.483	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	OR51T1	HGNC	protein_coding	OTTHUMT00000142180.1	-	0	62	0	G	NM_001004759		4904034	1	tier1	rs151076376	no_errors	ENST00000380378	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.964	A	A	4904034	G	A	4904034	3	1	113	1	0	0	0	0	1	0	0	0	11145	1087	38	1	988	1	OR51T1	11	4904034	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09		4904034	130102482	59	30547											
OR51V1	283111	genome.wustl.edu	37	chr11	5221161	5221161	+	Missense_Mutation	SNP	A	A	G	1	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	tagggatgtagaacacaaggAcagcacagatgtgggagatg	15	6	15	5	0	0	3	0	0	0	3	0	6	0	5	0	3	2	2	0	3	4	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:5221161A>G	ENST00000321255.1	-	1	769	c.770T>C	c.(769-771)gTc>gCc	p.V257A		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	257					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACACAAGGACAGCACAGAT	0.483																																																	0													141	124	129					11																	5221161		2201	4298	6499	SO:0001583	missense	0			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.770T>C	11.37:g.5221161A>G	ENSP00000321729:p.Val257Ala			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V257A	ENST00000321255.1	37	c.770	CCDS31375.1	11	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004873	0.35415	.	.	ENSG00000176742	ENST00000321255	T	0.72394	-0.65	5.27	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.291741	0.24608	N	0.037073	D	0.83119	0.5185	M	0.93808	3.46	0.24965	N	0.991708	D	0.59357	0.985	P	0.56648	0.803	T	0.77024	-0.2741	10	0.87932	D	0	.	7.7543	0.28915	0.8349:0.0:0.1651:0.0	.	257	Q9H2C8	O51V1_HUMAN	A	257	ENSP00000321729:V257A	ENSP00000321729:V257A	V	-	2	0	OR51V1	5177737	0.712000	0.27916	0.761000	0.31378	0.102000	0.19082	6.410000	0.73294	0.988000	0.38734	0.533000	0.62120	GTC	OR51V1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176742		0.483	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	HGNC	protein_coding	OTTHUMT00000142965.1	-	0	81	0	A	NM_001004760		5221161	-1	tier1	-	no_errors	ENST00000321255	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.664	G	G	5221161	A	G	5221161	3	3	113	1	0	0	0	0	1	0	0	0	11146	275	10	4	198	4	OR51V1	11	5221161	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	317127	5221161	129785355	60	30548											
ANO5	203859	genome.wustl.edu	37	chr11	22297708	22297708	+	Missense_Mutation	SNP	T	T	C	0	1	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	taatatgcaattctggcatgTccttgctgccaagatgacct	10	13	8	10	0	1	2	0	1	1	1	2	2	2	2	3	1	3	3	3	1	4	4			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:22297708T>C	ENST00000324559.8	+	21	2800	c.2483T>C	c.(2482-2484)gTc>gCc	p.V828A	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	828					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						TTCTGGCATGTCCTTGCTGCC	0.343																																																	0													110	94	99					11																	22297708		2202	4299	6501	SO:0001583	missense	0			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.2483T>C	11.37:g.22297708T>C	ENSP00000315371:p.Val828Ala			Missense_Mutation	SNP	pfam_Anoctamin	p.V828A	ENST00000324559.8	37	c.2483	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874204	0.91664	.	.	ENSG00000171714	ENST00000324559	T	0.63580	-0.05	4.96	4.96	0.65561	.	0.146463	0.64402	N	0.000012	T	0.78000	0.4215	M	0.88906	2.99	0.36788	D	0.884691	P	0.41498	0.752	P	0.51657	0.676	D	0.85827	0.1389	10	0.87932	D	0	.	14.9167	0.70805	0.0:0.0:0.0:1.0	.	828	Q75V66	ANO5_HUMAN	A	828	ENSP00000315371:V828A	ENSP00000315371:V828A	V	+	2	0	ANO5	22254284	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	7.972000	0.88022	1.994000	0.58287	0.454000	0.30748	GTC	ANO5	-	pfam_Anoctamin	ENSG00000171714		0.343	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	-	0	62	0	T	NM_213599		22297708	1	tier1	-	no_errors	ENST00000324559	ensembl	human	known	74_37	missense	11.63	76	10	SNP	1.000	C	C	22297708	T	C	22297708	3	2	113	1	0	0	0	0	1	0	0	0	700	1667	58	4	2565	4	ANO5	11	22297708	Missense_Mutation	SNP	T	TCGA-LN-A4A3-01A-11D-A27G-09	17076547	22297708	112708808	61	30549											
F2	2147	genome.wustl.edu	37	chr11	46751011	46751011	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagccaacgttggtaagggGcagcccagtgtcctgcaggt	9	7	14	11	1	0	0	0	0	0	0	1	0	1	0	3	4	4	4	3	4	2	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:46751011G>A	ENST00000311907.5	+	12	1610	c.1554G>A	c.(1552-1554)ggG>ggA	p.G518G	F2_ENST00000530231.1_Silent_p.G479G	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	518	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)	TTGGTAAGGGGCAGCCCAGTG	0.607																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0													115	96	102					11																	46751011		2201	4299	6500	SO:0001819	synonymous_variant	0			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.1554G>A	11.37:g.46751011G>A			B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Silent	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.G518	ENST00000311907.5	37	c.1554	CCDS31476.1	11																																																																																			F2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1	ENSG00000180210		0.607	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	HGNC	protein_coding	OTTHUMT00000317706.1	-	0	37	0	G			46751011	1	tier1	-	no_errors	ENST00000311907	ensembl	human	known	74_37	silent	43.86	32	25	SNP	0.037	A	A	46751011	G	A	46751011	2	1	113	1	0	0	0	0	0	0	0	1	5358	1190	42	3		3	F2	11	46751011	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	24453303	46751011	88255505	62	30550											
ZC3H12C	85463	genome.wustl.edu	37	chr11	110008026	110008026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaattaacactataacacgGgaaacttcttccctggaatc	15	10	5	11	1	1	0	0	0	1	0	3	2	2	2	1	2	3	0	1	2	6	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:110008026G>A	ENST00000278590.3	+	2	711	c.660G>A	c.(658-660)cgG>cgA	p.R220R	ZC3H12C_ENST00000528673.1_Silent_p.R221R|ZC3H12C_ENST00000453089.2_Silent_p.R189R	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	220							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTATAACACGGGAAACTTCTT	0.378																																																	0													61	57	58					11																	110008026		1858	4094	5952	SO:0001819	synonymous_variant	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.660G>A	11.37:g.110008026G>A			B4DI65|B4DR47	Silent	SNP	pfam_RNase_Zc3h12	p.R220	ENST00000278590.3	37	c.660	CCDS44727.1	11																																																																																			ZC3H12C	-	NULL	ENSG00000149289		0.378	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1		0	81	0	G	NM_033390		110008026	1			no_errors	ENST00000278590	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.998	A	A	110008026	G	A	110008026	2	1	113	1	0	0	0	0	0	0	0	1	17611	1219	43	3		3	ZC3H12C	11	110008026	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	63257015	110008026	24998490	63	30551											
TMPRSS4	56649	genome.wustl.edu	37	chr11	117973848	117973848	+	Missense_Mutation	SNP	T	T	A	0	1	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	tggataaatactacttcctcTgcgggcagcctctccacttc	8	12	7	14	1	2	0	0	0	2	0	5	1	3	1	3	2	4	1	3	2	4	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:117973848T>A	ENST00000437212.3	+	4	404	c.190T>A	c.(190-192)Tgc>Agc	p.C64S	TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.C24S|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.C64S|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.C62S			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	64	LDL-receptor class A.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTACTTCCTCTGCGGGCAGCC	0.587																																																	0													134	134	134					11																	117973848		2200	4296	6496	SO:0001583	missense	0			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.190T>A	11.37:g.117973848T>A	ENSP00000416037:p.Cys64Ser		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.C64S	ENST00000437212.3	37	c.190	CCDS31684.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.23|16.23	3.065181|3.065181	0.55432|0.55432	.|.	.|.	ENSG00000137648|ENSG00000137648	ENST00000534111;ENST00000523251;ENST00000437212;ENST00000522824|ENST00000517544	D;D;D;D|D	0.99369|0.91180	-5.78;-5.78;-5.78;-5.78|-2.8	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	D|D	0.95859|0.95859	0.8652|0.8652	H|H	0.94306|0.94306	3.52|3.52	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.46327|.	0.597;0.804;0.839;0.876|.	B;B;P;P|.	0.54312|.	0.255;0.356;0.748;0.559|.	D|D	0.95649|0.95649	0.8705|0.8705	10|7	0.72032|0.32370	D|T	0.01|0.25	.|.	13.9724|13.9724	0.64250|0.64250	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	39;24;64;62|.	B7Z900;E7ERX8;Q9NRS4;Q9NRS4-3|.	.;.;TMPS4_HUMAN;.|.	S|Q	62;24;64;64|30	ENSP00000435184:C62S;ENSP00000429209:C24S;ENSP00000416037:C64S;ENSP00000430547:C64S|ENSP00000429833:L30Q	ENSP00000416037:C64S|ENSP00000429833:L30Q	C|L	+|+	1|2	0|0	TMPRSS4|TMPRSS4	117479058|117479058	1.000000|1.000000	0.71417|0.71417	0.861000|0.861000	0.33841|0.33841	0.102000|0.102000	0.19082|0.19082	3.720000|3.720000	0.54933|0.54933	1.940000|1.940000	0.56252|0.56252	0.379000|0.379000	0.24179|0.24179	TGC|CTG	TMPRSS4	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt	ENSG00000137648		0.587	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS4	HGNC	protein_coding	OTTHUMT00000377328.2	-	0	75	0	T	NM_019894		117973848	1	tier1	-	no_errors	ENST00000437212	ensembl	human	known	74_37	missense	31.18	64	29	SNP	1.000	A	A	117973848	T	A	117973848	3	1	113	1	0	0	0	0	1	0	0	0	16296	1580	55	5	204	5	TMPRSS4	11	117973848	Missense_Mutation	SNP	T	TCGA-LN-A4A3-01A-11D-A27G-09	7965822	117973848	17032668	64	30552											
SLC37A2	219855	genome.wustl.edu	37	chr11	124950542	124950542	+	Missense_Mutation	SNP	A	A	C	1	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	catgggcatctggaattcccAcacatctgtgggcaacatcc	10	9	9	13	0	2	0	0	0	2	0	4	1	4	1	2	3	1	2	2	3	2	1			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:124950542A>C	ENST00000403796.2	+	7	861	c.560A>C	c.(559-561)cAc>cCc	p.H187P	SLC37A2_ENST00000298280.5_Missense_Mutation_p.H187P|SLC37A2_ENST00000308074.4_Missense_Mutation_p.H187P|SLC37A2_ENST00000407458.1_Missense_Mutation_p.H187P	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	187					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TGGAATTCCCACACATCTGTG	0.542																																					Melanoma(11;373 620 21213 26083 47768)												0													81	76	78					11																	124950542		2201	4299	6500	SO:0001583	missense	0			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.560A>C	11.37:g.124950542A>C	ENSP00000384407:p.His187Pro		A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.H187P	ENST00000403796.2	37	c.560	CCDS44757.1	11	.	.	.	.	.	.	.	.	.	.	A	26.2	4.715432	0.89112	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000532000;ENST00000308074	T;T;T;T;T	0.67345	0.39;0.39;0.39;-0.26;0.39	5.08	5.08	0.68730	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.86251	0.5888	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.995	D	0.89533	0.3787	10	0.54805	T	0.06	-27.8879	15.0064	0.71516	1.0:0.0:0.0:0.0	.	187;187	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	P	187;187;187;150;187	ENSP00000384407:H187P;ENSP00000385126:H187P;ENSP00000298280:H187P;ENSP00000432254:H150P;ENSP00000311833:H187P	ENSP00000298280:H187P	H	+	2	0	SLC37A2	124455752	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.109000	0.94291	2.144000	0.66660	0.460000	0.39030	CAC	SLC37A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000134955		0.542	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC37A2	HGNC	protein_coding	OTTHUMT00000386837.1	-	0	56	0	A	XM_166184		124950542	1	tier1	-	no_errors	ENST00000308074	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	C	C	124950542	A	C	124950542	3	2	113	1	0	0	0	0	1	0	0	0	14643	159	6	4	586	4	SLC37A2	11	124950542	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	6976694	124950542	10055974	65	30553											
ALG10	84920	genome.wustl.edu	37	chr12	34179678	34179678	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaactgctggaatttcgttActtcattttaccttatgtca	10	17	6	8	1	2	0	2	0	0	0	3	2	2	1	1	1	4	2	1	1	5	6			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:34179678A>G	ENST00000266483.2	+	3	1569	c.1250A>G	c.(1249-1251)tAc>tGc	p.Y417C	AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	417					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)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GAATTTCGTTACTTCATTTTA	0.343																																																	0													203	205	204					12																	34179678		2203	4300	6503	SO:0001583	missense	0			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"derepression of ITR1 expression 2 homolog (S. cerevisiae)", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"	603313	"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)", "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.1250A>G	12.37:g.34179678A>G	ENSP00000266483:p.Tyr417Cys		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	pfam_Alg10,pirsf_Alg10	p.Y417C	ENST00000266483.2	37	c.1250	CCDS41769.1	12	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639856	0.47153	.	.	ENSG00000139133	ENST00000266483	T	0.70869	-0.52	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	D	0.86569	0.5964	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88407	0.3019	10	0.87932	D	0	.	10.0836	0.42404	1.0:0.0:0.0:0.0	.	417	Q5BKT4	AG10A_HUMAN	C	417	ENSP00000266483:Y417C	ENSP00000266483:Y417C	Y	+	2	0	ALG10	34070945	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	8.928000	0.92853	1.322000	0.45245	0.155000	0.16302	TAC	ALG10	-	pfam_Alg10,pirsf_Alg10	ENSG00000139133		0.343	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10	HGNC	protein_coding	OTTHUMT00000403309.1	-	0	104	0	A	NM_032834		34179678	1	tier1	-	no_errors	ENST00000266483	ensembl	human	known	74_37	missense	13.76	94	15	SNP	1.000	G	G	34179678	A	G	34179678	3	3	113	1	0	0	0	0	1	0	0	0	511	391	14	4	1260	4	ALG10	12	34179678	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09		34179678	99672217	66	30554											
MLL2	8085	genome.wustl.edu	37	chr12	49426055	49426055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttctgggtcatggacccagGctgatcccctaaggaaacag	10	8	12	11	0	2	1	1	1	1	0	3	3	3	3	3	4	1	2	3	4	2	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:49426055G>T	ENST00000301067.7	-	39	12432	c.12433C>A	c.(12433-12435)Cct>Act	p.P4145T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4145	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)										ATGGACCCAGGCTGATCCCCT	0.587																																																	0													52	48	49					12																	49426055		1985	4172	6157	SO:0001583	missense	0			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.12433C>A	12.37:g.49426055G>T	ENSP00000301067:p.Pro4145Thr		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P4145T	ENST00000301067.7	37	c.12433	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	0.366	-0.936502	0.02340	.	.	ENSG00000167548	ENST00000301067	T	0.78364	-1.17	4.74	2.86	0.33363	.	0.000000	0.36374	N	0.002630	T	0.57095	0.2030	N	0.08118	0	0.33016	D	0.52825	B	0.17038	0.02	B	0.12837	0.008	T	0.60682	-0.7215	10	0.87932	D	0	.	8.9154	0.35579	0.0814:0.0:0.7696:0.149	.	4145	O14686	MLL2_HUMAN	T	4145	ENSP00000301067:P4145T	ENSP00000301067:P4145T	P	-	1	0	MLL2	47712322	1.000000	0.71417	0.996000	0.52242	0.105000	0.19272	2.618000	0.46393	0.664000	0.31047	-0.136000	0.14681	CCT	KMT2D	-	NULL	ENSG00000167548		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	41	0	G			49426055	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	49426055	G	T	49426055	3	4	113	1	0	0	0	0	1	0	0	0	9659	1203	42	3	4244	3	MLL2	12	49426055	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	15246377	49426055	84425840	67	30555											
TENC1	23371	genome.wustl.edu	37	chr12	53453482	53453482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggaccctgggctgcctgCcctatacccatgcccagcct	6	7	11	17	0	0	0	0	0	0	0	0	2	0	2	6	3	5	1	6	3	2	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:53453482C>A	ENST00000314250.6	+	18	2347	c.2057C>A	c.(2056-2058)gCc>gAc	p.A686D	TENC1_ENST00000552570.1_Missense_Mutation_p.A686D|TENC1_ENST00000549700.1_Missense_Mutation_p.A686D|TENC1_ENST00000314276.3_Missense_Mutation_p.A696D|TENC1_ENST00000379902.3_Missense_Mutation_p.A562D|TENC1_ENST00000546602.1_Missense_Mutation_p.A686D|TENC1_ENST00000451358.1_Missense_Mutation_p.A686D	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	686					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						GGGCTGCCTGCCCTATACCCA	0.652																																																	0													42	42	42					12																	53453482		2203	4300	6503	SO:0001583	missense	0			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.2057C>A	12.37:g.53453482C>A	ENSP00000319684:p.Ala686Asp		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.A696D	ENST00000314250.6	37	c.2087	CCDS8843.1	12	.	.	.	.	.	.	.	.	.	.	C	4.788	0.146523	0.09134	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.95238	-3.59;-3.59;-3.59;-3.6;-3.65;-3.59;-3.59	4.54	3.65	0.41850	.	0.940200	0.09041	N	0.857388	D	0.89111	0.6622	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.25609	0.039;0.13;0.023;0.13	B;B;B;B	0.29524	0.044;0.044;0.02;0.103	T	0.79303	-0.1859	10	0.27082	T	0.32	.	8.9748	0.35928	0.0:0.8972:0.0:0.1028	.	686;686;686;696	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	D	562;696;686;686;686;686;686	ENSP00000369232:A562D;ENSP00000319756:A696D;ENSP00000319684:A686D;ENSP00000393362:A686D;ENSP00000449363:A686D;ENSP00000447021:A686D;ENSP00000449361:A686D	ENSP00000319684:A686D	A	+	2	0	TENC1	51739749	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	1.792000	0.38754	1.273000	0.44346	0.563000	0.77884	GCC	TENC1	-	NULL	ENSG00000111077		0.652	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	-	0	47	0	C	NM_170754		53453482	1	tier1	-	no_errors	ENST00000314276	ensembl	human	known	74_37	missense	14.49	59	10	SNP	0.006	A	A	53453482	C	A	53453482	3	1	113	1	0	0	0	0	1	0	0	0	15805	739	26	3	2236	3	TENC1	12	53453482	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	4027427	53453482	80398413	68	30556											
MON2	23041	genome.wustl.edu	37	chr12	62936944	62936944	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatatgcaccgaatagaaaTtctgtggagacctctgactg	13	11	9	8	1	2	3	0	1	2	2	2	5	2	3	2	1	1	1	2	1	5	4			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:62936944T>A	ENST00000393632.2	+	20	2823	c.2432T>A	c.(2431-2433)aTt>aAt	p.I811N	MON2_ENST00000552115.1_Missense_Mutation_p.I811N|MON2_ENST00000393630.3_Missense_Mutation_p.I811N|MON2_ENST00000546600.1_Missense_Mutation_p.I811N|RNU6-399P_ENST00000365164.1_RNA|MON2_ENST00000393629.2_Missense_Mutation_p.I811N|MON2_ENST00000280379.6_Missense_Mutation_p.I811N|MON2_ENST00000552738.1_Missense_Mutation_p.I788N	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	811					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)		CGAATAGAAATTCTGTGGAGA	0.318																																																	0													102	103	103					12																	62936944		2203	4299	6502	SO:0001583	missense	0				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.2432T>A	12.37:g.62936944T>A	ENSP00000377252:p.Ile811Asn		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold	p.I811N	ENST00000393632.2	37	c.2432	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867537	0.72065	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;1.46	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.71674	0.989;0.994;0.994;0.998	P;D;D;D	0.67725	0.854;0.953;0.921;0.953	T	0.65100	-0.6250	9	.	.	.	-23.2107	15.8772	0.79173	0.0:0.0:0.0:1.0	.	811;788;811;811	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	N	811;811;811;811;788;811;811	ENSP00000377252:I811N;ENSP00000377250:I811N;ENSP00000280379:I811N;ENSP00000447407:I811N;ENSP00000449215:I788N;ENSP00000377249:I811N;ENSP00000446635:I811N	.	I	+	2	0	MON2	61223211	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.202000	0.70862	0.533000	0.62120	ATT	MON2	-	superfamily_ARM-type_fold	ENSG00000061987		0.318	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	-	0	112	0	T	NM_015026		62936944	1	tier1	-	no_errors	ENST00000393630	ensembl	human	known	74_37	missense	8.70	63	6	SNP	1.000	A	A	62936944	T	A	62936944	3	1	113	1	0	0	0	0	1	0	0	0	9738	1493	52	5	2510	5	MON2	12	62936944	Missense_Mutation	SNP	T	TCGA-LN-A4A3-01A-11D-A27G-09	9483462	62936944	70914951	69	30557											
APAF1	317	genome.wustl.edu	37	chr12	99126322	99126322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggataatcttggtattttatAtattttacagactttagaat	13	19	6	3	0	1	2	0	0	1	2	1	3	1	3	0	2	1	1	0	2	8	11			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:99126322A>G	ENST00000551964.1	+	27	4461	c.3725A>G	c.(3724-3726)tAt>tGt	p.Y1242C	APAF1_ENST00000339433.3_Missense_Mutation_p.Y1157C|APAF1_ENST00000333991.1_3'UTR|APAF1_ENST00000552268.1_3'UTR|APAF1_ENST00000549007.1_Missense_Mutation_p.Y1157C|APAF1_ENST00000547045.1_Missense_Mutation_p.Y1199C|APAF1_ENST00000357310.1_Missense_Mutation_p.Y1199C|APAF1_ENST00000550527.1_Missense_Mutation_p.Y1231C|APAF1_ENST00000359972.2_Missense_Mutation_p.Y1188C	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1242					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)	GGTATTTTATATATTTTACAG	0.294																																																	0													49	48	49					12																	99126322		2203	4300	6503	SO:0001583	missense	0			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.3725A>G	12.37:g.99126322A>G	ENSP00000448165:p.Tyr1242Cys		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.Y1242C	ENST00000551964.1	37	c.3725	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276603	0.80580	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.67698	0.12;0.3;0.21;-0.28;0.11;0.21;-0.28	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81941	0.4929	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	0.97110	0.999;1.0;1.0;0.999;0.999	D	0.83822	0.0247	10	0.72032	D	0.01	-17.5903	16.4277	0.83824	1.0:0.0:0.0:0.0	.	1157;1199;1188;1242;1231	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	C	1242;1188;1199;1157;1231;1199;1157	ENSP00000448165:Y1242C;ENSP00000353059:Y1188C;ENSP00000349862:Y1199C;ENSP00000341830:Y1157C;ENSP00000448449:Y1231C;ENSP00000449791:Y1199C;ENSP00000448161:Y1157C	ENSP00000341830:Y1157C	Y	+	2	0	APAF1	97650453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.235000	0.89803	2.279000	0.76181	0.533000	0.62120	TAT	APAF1	-	superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1	ENSG00000120868		0.294	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	-	0	27	0	A	NM_181861.1		99126322	1	tier1	-	no_errors	ENST00000551964	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	G	G	99126322	A	G	99126322	3	3	113	1	0	0	0	0	1	0	0	0	755	449	16	4	3827	4	APAF1	12	99126322	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	36189378	99126322	34725573	70	30558											
GCN1L1	10985	genome.wustl.edu	37	chr12	120569744	120569744	+	Missense_Mutation	SNP	T	T	C	0	1	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	acttacccagcaagcactgcTgtagaacggcactaagctcc	12	7	8	14	1	0	1	0	0	0	1	1	1	1	1	2	1	6	6	2	1	5	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:120569744T>C	ENST00000300648.6	-	54	7412	c.7400A>G	c.(7399-7401)cAg>cGg	p.Q2467R		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2467					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)					CAAGCACTGCTGTAGAACGGC	0.582																																																	0													57	58	58					12																	120569744		1991	4172	6163	SO:0001583	missense	0			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.7400A>G	12.37:g.120569744T>C	ENSP00000300648:p.Gln2467Arg		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.Q2467R	ENST00000300648.6	37	c.7400	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	T	2.626	-0.287520	0.05605	.	.	ENSG00000089154	ENST00000300648	T	0.32023	1.47	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.169882	0.43260	D	0.000597	T	0.19046	0.0457	N	0.17723	0.515	0.46011	D	0.998811	B	0.09022	0.002	B	0.04013	0.001	T	0.05566	-1.0877	10	0.13853	T	0.58	-19.1262	13.7063	0.62641	0.0:0.0:0.0:1.0	.	2467	Q92616	GCN1L_HUMAN	R	2467	ENSP00000300648:Q2467R	ENSP00000300648:Q2467R	Q	-	2	0	GCN1L1	119054127	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.440000	0.66563	1.889000	0.54706	0.533000	0.62120	CAG	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	-	0	39	0	T			120569744	-1	tier1	-	no_errors	ENST00000300648	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	C	C	120569744	T	C	120569744	3	2	113	1	0	0	0	0	1	0	0	0	6324	1580	55	4	635	4	GCN1L1	12	120569744	Missense_Mutation	SNP	T	TCGA-LN-A4A3-01A-11D-A27G-09	21443422	120569744	13282151	71	30559											
GLT1D1	144423	genome.wustl.edu	37	chr12	129373274	129373274	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacacagtcatgggcagagTtcttgaggaagccaggtaat	14	8	12	7	0	2	2	1	1	1	1	2	3	2	3	1	3	2	3	1	3	3	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:129373274T>G	ENST00000442111.2	+	3	396	c.308T>G	c.(307-309)gTt>gGt	p.V103G	GLT1D1_ENST00000542193.1_Missense_Mutation_p.V4G|GLT1D1_ENST00000281703.6_Missense_Mutation_p.V103G|GLT1D1_ENST00000537468.1_Missense_Mutation_p.V92G			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	103					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		ATGGGCAGAGTTCTTGAGGAA	0.438																																																	0													92	82	86					12																	129373274		2203	4300	6503	SO:0001583	missense	0				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.308T>G	12.37:g.129373274T>G	ENSP00000394692:p.Val103Gly		Q86XG8	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.V103G	ENST00000442111.2	37	c.308		12	.	.	.	.	.	.	.	.	.	.	T	14.20	2.465047	0.43839	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	T;T;T;T	0.79141	-1.24;0.49;-1.24;0.35	5.4	5.4	0.78164	.	0.064020	0.64402	D	0.000009	D	0.85575	0.5728	M	0.73598	2.24	0.58432	D	0.999998	D;D	0.76494	0.987;0.999	P;D	0.64410	0.809;0.925	D	0.83855	0.0265	10	0.23891	T	0.37	-34.3782	14.6068	0.68486	0.0:0.0:0.0:1.0	.	92;103	F5H088;Q96MS3-2	.;.	G	103;103;92;4	ENSP00000394692:V103G;ENSP00000281703:V103G;ENSP00000438158:V92G;ENSP00000437500:V4G	ENSP00000281703:V103G	V	+	2	0	GLT1D1	127939227	1.000000	0.71417	0.264000	0.24511	0.149000	0.21700	4.902000	0.63266	2.039000	0.60335	0.528000	0.53228	GTT	GLT1D1	-	NULL	ENSG00000151948		0.438	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	HGNC	protein_coding	OTTHUMT00000399740.1		0	56	0	T	NM_144669		129373274	1			no_errors	ENST00000442111	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.980	G	G	129373274	T	G	129373274	3	3	113	1	0	0	0	0	1	0	0	0	6491	1725	60	4	318	4	GLT1D1	12	129373274	Missense_Mutation	SNP	T	TCGA-LN-A4A3-01A-11D-A27G-09	8803530	129373274	4478621	72	30560											
TM9SF1	10548	genome.wustl.edu	37	chr14	24661561	24661561	+	Splice_Site	SNP	G	G	T	0	0	1	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	agcagtgccatgacaataatGcctgcaggacggtagcggaa	13	6	13	9	2	0	1	0	1	0	0	0	3	0	3	2	3	5	3	2	3	4	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr14:24661561G>T	ENST00000261789.4	-	4	1327	c.969C>A	c.(967-969)ggC>ggA	p.G323G	TM9SF1_ENST00000530611.1_Splice_Site_p.G532G|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000524835.1_Splice_Site_p.G236G|TM9SF1_ENST00000556387.1_Splice_Site_p.G532G|TM9SF1_ENST00000396854.4_Splice_Site_p.G323G|TM9SF1_ENST00000528669.1_Splice_Site_p.G323G	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	323					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TGACAATAATGCCTGCAGGAC	0.552																																																	0													70	58	62					14																	24661561		2203	4300	6503	SO:0001630	splice_region_variant	0			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.968-1C>A	14.37:g.24661561G>T			D3DS65|Q86SZ6|Q96FI8	Silent	SNP	pfam_EMP70,pfam_Snf7	p.G532	ENST00000261789.4	37	c.1596	CCDS9617.1	14																																																																																			TM9SF1	-	pfam_EMP70	ENSG00000100926		0.552	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	TM9SF1	HGNC	protein_coding	OTTHUMT00000073136.2	-	0	59	0	G	NM_006405	Silent	24661561	-1	tier1	-	no_errors	ENST00000556387	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	T	T	24661561	G	T	24661561	5	4	113	1	0	0	0	0	0	0	1	0	16024	1333	46	3	906	3	TM9SF1	14	24661561	Splice_Site	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09		24661561	82687979	73	30561											
CALM1	801	genome.wustl.edu	37	chr14	90866417	90866417	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcatataggctgatcaGctgaccgaagaacagattgc	12	11	9	9	1	3	4	2	2	1	2	3	5	3	4	1	1	3	2	1	1	4	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr14:90866417G>A	ENST00000356978.4	+	2	260	c.12G>A	c.(10-12)caG>caA	p.Q4Q	CALM1_ENST00000553542.1_De_novo_Start_InFrame|RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000447653.3_Silent_p.Q5Q|CALM1_ENST00000544280.2_De_novo_Start_InFrame	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	4					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	AGGCTGATCAGCTGACCGAAG	0.418											OREG0022864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													167	163	164					14																	90866417		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"EF-hand domain containing", "Endogenous ligands"	1442	protein-coding gene	gene with protein product	"prepro-calmodulin 1"	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.12G>A	14.37:g.90866417G>A		1278	P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Silent	SNP	pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.Q4	ENST00000356978.4	37	c.12	CCDS9892.1	14																																																																																			CALM1	-	NULL	ENSG00000198668		0.418	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CALM1	HGNC	protein_coding	OTTHUMT00000411346.1	-	0	60	0	G			90866417	1	tier1	-	no_errors	ENST00000356978	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	A	A	90866417	G	A	90866417	2	1	113	1	0	0	0	0	0	0	0	1	2591	962	34	3		3	CALM1	14	90866417	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	66204856	90866417	16483123	74	30562											
WDR20	91833	genome.wustl.edu	37	chr14	102675610	102675610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtaagtgtcacgtatcGgtttggttccgtgggccagg	5	11	14	11	4	1	0	1	0	0	0	3	0	2	0	4	4	0	4	4	4	2	4	rs554826886		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr14:102675610G>T	ENST00000342702.3	+	3	1134	c.1103G>T	c.(1102-1104)cGg>cTg	p.R368L	WDR20_ENST00000556511.2_Missense_Mutation_p.R307L|WDR20_ENST00000556807.1_Missense_Mutation_p.R307L|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.R399L|WDR20_ENST00000335263.5_Missense_Mutation_p.R368L|WDR20_ENST00000499851.2_Missense_Mutation_p.R111L|WDR20_ENST00000545563.1_Missense_Mutation_p.R195L|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000424963.2_Missense_Mutation_p.R244L	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	368										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GTCACGTATCGGTTTGGTTCC	0.507											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													91	81	85					14																	102675610		2203	4300	6503	SO:0001583	missense	0			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.1103G>T	14.37:g.102675610G>T	ENSP00000341037:p.Arg368Leu	1368	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R399L	ENST00000342702.3	37	c.1196	CCDS9969.1	14	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829113	0.71258	.	.	ENSG00000140153	ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000499851;ENST00000454394;ENST00000401892;ENST00000545563	T;T;T;T;T;T;T	0.75050	-0.9;2.44;-0.9;2.44;3.43;-0.9;-0.9	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88955	0.6578	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.987;1.0	D;D;D;D;D;D;D	0.97110	0.995;0.999;0.998;1.0;0.998;0.953;0.995	D	0.89826	0.3992	10	0.56958	D	0.05	.	19.5351	0.95247	0.0:0.0:1.0:0.0	.	399;380;307;368;307;244;368	E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3	.;.;.;.;.;.;WDR20_HUMAN	L	368;307;244;368;307;111;399;298;195	ENSP00000335434:R368L;ENSP00000395793:R244L;ENSP00000341037:R368L;ENSP00000450636:R307L;ENSP00000443641:R111L;ENSP00000406084:R399L;ENSP00000437927:R195L	ENSP00000299135:R307L	R	+	2	0	WDR20	101745363	1.000000	0.71417	0.986000	0.45419	0.702000	0.40608	9.467000	0.97671	2.640000	0.89533	0.655000	0.94253	CGG	WDR20	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000140153		0.507	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR20	HGNC	protein_coding	OTTHUMT00000414963.1	-	0	47	0	G	NM_181291		102675610	1	tier1	-	no_errors	ENST00000454394	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	102675610	G	T	102675610	3	4	113	1	0	0	0	0	1	0	0	0	17329	1116	39	2	1130	2	WDR20	14	102675610	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	11809193	102675610	4673930	75	30563											
ATP8B4	79895	genome.wustl.edu	37	chr15	50366377	50366377	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attggctttcactatccgttCcacttctaaagagagagaaa	13	12	7	9	1	2	2	1	0	1	2	4	4	4	2	2	1	0	2	2	1	4	6			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr15:50366377C>A	ENST00000284509.6	-	3	175	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E12*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	12						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACTATCCGTTCCACTTCTAAA	0.353																																																	0													165	145	152					15																	50366377		2196	4293	6489	SO:0001587	stop_gained	0			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.34G>T	15.37:g.50366377C>A	ENSP00000284509:p.Glu12*		Q9H727	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E12*	ENST00000284509.6	37	c.34	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	41	8.684946	0.98914	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.15	4.22	0.49857	.	0.269984	0.29009	N	0.013436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	11.7727	0.51968	0.0:0.8226:0.1774:0.0	.	.	.	.	X	12	.	ENSP00000284509:E12X	E	-	1	0	ATP8B4	48153669	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.196000	0.42686	1.146000	0.42352	0.650000	0.86243	GAA	ATP8B4	-	NULL	ENSG00000104043		0.353	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	-	0	56	0	C	NM_024837		50366377	-1	tier1	-	no_errors	ENST00000284509	ensembl	human	known	74_37	nonsense	6.15	60	4	SNP	1.000	A	A	50366377	C	A	50366377	4	1	113	1	0	0	0	0	0	1	0	0	1198	864	30	3	3648	3	ATP8B4	15	50366377	Nonsense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09		50366377	52165015	76	30564											
TMOD3	29766	genome.wustl.edu	37	chr15	52179895	52179895	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agtgcttctgatacagaattGtgtgacctcgcaggtatcac	10	12	10	9	1	2	3	1	2	1	1	3	3	2	3	1	1	2	3	1	1	3	4			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr15:52179895G>T	ENST00000308580.7	+	4	674	c.393G>T	c.(391-393)ttG>ttT	p.L131F	TMOD3_ENST00000544199.1_Missense_Mutation_p.L131F|RP11-56B16.5_ENST00000558142.1_RNA	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	131						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		ATACAGAATTGTGTGACCTCG	0.378																																					Colon(122;1837 2251 18387 22826)												0													61	63	62					15																	52179895		2195	4293	6488	SO:0001583	missense	0			AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.393G>T	15.37:g.52179895G>T	ENSP00000308753:p.Leu131Phe		B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	pfam_Tropomodulin	p.L131F	ENST00000308580.7	37	c.393	CCDS10145.1	15	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012052	0.75046	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	T;T	0.42131	0.98;0.98	5.6	3.73	0.42828	.	0.000000	0.64402	D	0.000001	T	0.62950	0.2470	M	0.85945	2.785	0.58432	D	0.999999	D	0.67145	0.996	D	0.72625	0.978	T	0.64343	-0.6430	10	0.72032	D	0.01	-8.2735	7.3244	0.26547	0.1885:0.0:0.688:0.1234	.	131	Q9NYL9	TMOD3_HUMAN	F	131	ENSP00000308753:L131F;ENSP00000438909:L131F	ENSP00000308753:L131F	L	+	3	2	TMOD3	49967187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.123000	0.50453	0.838000	0.34948	0.563000	0.77884	TTG	TMOD3	-	pfam_Tropomodulin	ENSG00000138594		0.378	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD3	HGNC	protein_coding	OTTHUMT00000254740.3	-	0	51	0	G			52179895	1	tier1	-	no_errors	ENST00000308580	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	52179895	G	T	52179895	3	4	113	1	0	0	0	0	1	0	0	0	16282	1368	48	3	403	3	TMOD3	15	52179895	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	1813518	52179895	50351497	77	30565											
SPG21	51324	genome.wustl.edu	37	chr15	65267023	65267023	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gaatggactctaggagatttGtgagtgtattcagcaaattt	12	14	11	4	0	2	2	1	1	1	1	2	5	2	3	0	2	1	2	0	2	4	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr15:65267023G>T	ENST00000204566.2	-	5	664	c.369C>A	c.(367-369)caC>caA	p.H123Q	SPG21_ENST00000416889.2_Missense_Mutation_p.H96Q|SPG21_ENST00000560564.1_5'UTR|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000433215.2_Missense_Mutation_p.H123Q	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	123					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TAGGAGATTTGTGAGTGTATT	0.383																																																	0													105	110	108					15																	65267023		2202	4299	6501	SO:0001583	missense	0			AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"maspardin"	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.369C>A	15.37:g.65267023G>T	ENSP00000204566:p.His123Gln		B4DW44|Q6ZMB6	Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.H123Q	ENST00000204566.2	37	c.369	CCDS10198.1	15	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915412	0.52546	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T;T	0.66460	1.62;-0.21;1.62	6.16	5.25	0.73442	.	0.043354	0.85682	D	0.000000	T	0.58807	0.2148	L	0.43152	1.355	0.80722	D	1	B;B	0.25206	0.12;0.087	B;B	0.29942	0.066;0.109	T	0.53676	-0.8405	10	0.12103	T	0.63	-17.5293	14.5026	0.67732	0.0706:0.0:0.9294:0.0	.	96;123	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	Q	123;96;123	ENSP00000204566:H123Q;ENSP00000394846:H96Q;ENSP00000404111:H123Q	ENSP00000204566:H123Q	H	-	3	2	SPG21	63054076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.857000	0.86963	1.623000	0.50342	0.650000	0.86243	CAC	SPG21	-	pfam_AB_hydrolase_1	ENSG00000090487		0.383	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG21	HGNC	protein_coding	OTTHUMT00000256758.3	-	0	30	0	G	NM_016630		65267023	-1	tier1	-	no_errors	ENST00000204566	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	T	T	65267023	G	T	65267023	3	4	113	1	0	0	0	0	1	0	0	0	15090	1368	48	3	577	3	SPG21	15	65267023	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	13087128	65267023	37264369	78	30566											
WDR24	84219	genome.wustl.edu	37	chr16	736118	736118	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgcccacactgtggttGaggtttgcagtgggcactag	6	11	13	11	0	0	1	0	1	0	0	0	1	0	1	2	3	2	4	2	3	1	4			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:736118G>T	ENST00000248142.6	-	8	1790	c.1791C>A	c.(1789-1791)ctC>ctA	p.L597L	WDR24_ENST00000293883.4_Silent_p.L467L|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	597										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)				CACTGTGGTTGAGGTTTGCAG	0.657																																																	0													59	53	55					16																	736118		2198	4300	6498	SO:0001819	synonymous_variant	0			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.1791C>A	16.37:g.736118G>T			A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L597	ENST00000248142.6	37	c.1791		16																																																																																			WDR24	-	NULL	ENSG00000127580		0.657	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		-	0	49	0	G	NM_032259		736118	-1	tier1	-	no_errors	ENST00000248142	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.999	T	T	736118	G	T	736118	2	4	113	1	0	0	0	0	0	0	0	1	17330	1277	45	3		3	WDR24	16	736118	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09		736118	89618635	79	30567											
ZNF434	54925	genome.wustl.edu	37	chr16	3433044	3433044	+	Silent	SNP	C	C	T	0	0	0	1	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	attttcccacacactgcacaCttgtatgggctctccccagt	8	12	6	15	0	1	0	0	0	1	0	3	0	2	0	3	1	1	3	3	1	1	4			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:3433044C>T	ENST00000396852.4	-	7	2209	c.1902G>A	c.(1900-1902)aaG>aaA	p.K634K	ZSCAN32_ENST00000304926.3_Silent_p.K422K|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000439568.2_Silent_p.K345K|ZSCAN32_ENST00000396846.3_Silent_p.K634K	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	634					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)										ACACTGCACACTTGTATGGGC	0.502																																																	0													134	115	121					16																	3433044		2197	4300	6497	SO:0001819	synonymous_variant	0			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1902G>A	16.37:g.3433044C>T			B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.K634	ENST00000396852.4	37	c.1902		16																																																																																			ZSCAN32	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000140987		0.502	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZSCAN32	HGNC	protein_coding	OTTHUMT00000251509.2	-	0	134	0	C	NM_017810		3433044	-1	tier1	-	no_errors	ENST00000396846	ensembl	human	known	74_37	silent	5.37	140	8	SNP	0.001	T	T	3433044	C	T	3433044	2	4	113	1	0	0	0	0	0	0	0	1	17956	564	20	3		3	ZNF434	16	3433044	Silent	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	2696926	3433044	86921709	80	30568											
UBN1	29855	genome.wustl.edu	37	chr16	4921188	4921188	+	Missense_Mutation	SNP	T	T	G	0	1	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	ccaggtggtgaagatcaaacTggagagccaggacctggaga	13	5	15	8	0	1	4	1	1	0	3	1	7	1	5	3	5	2	0	3	5	2	0			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:4921188T>G	ENST00000396658.4	+	11	2295	c.1592T>G	c.(1591-1593)cTg>cGg	p.L531R	UBN1_ENST00000262376.6_Missense_Mutation_p.L531R|UBN1_ENST00000545171.1_Missense_Mutation_p.L531R|UBN1_ENST00000590769.1_Missense_Mutation_p.L531R	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	531					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						AAGATCAAACTGGAGAGCCAG	0.537																																																	0													116	111	113					16																	4921188		2197	4300	6497	SO:0001583	missense	0			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.1592T>G	16.37:g.4921188T>G	ENSP00000379894:p.Leu531Arg		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	NULL	p.L531R	ENST00000396658.4	37	c.1592	CCDS10525.1	16	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701832	0.68501	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.43688	0.94;0.94;0.94	5.56	5.56	0.83823	.	0.271703	0.32314	N	0.006266	T	0.59018	0.2163	L	0.49126	1.545	0.41941	D	0.990615	D;D	0.76494	0.999;0.999	D;D	0.71184	0.952;0.972	T	0.62704	-0.6798	10	0.87932	D	0	-8.6697	15.7077	0.77598	0.0:0.0:0.0:1.0	.	531;531	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	R	531	ENSP00000262376:L531R;ENSP00000442379:L531R;ENSP00000379894:L531R	ENSP00000262376:L531R	L	+	2	0	UBN1	4861189	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.489000	0.53237	2.112000	0.64535	0.528000	0.53228	CTG	UBN1	-	NULL	ENSG00000118900		0.537	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	-	0	76	0	T	NM_016936		4921188	1	tier1	-	no_errors	ENST00000262376	ensembl	human	known	74_37	missense	37.18	49	29	SNP	1.000	G	G	4921188	T	G	4921188	3	3	113	1	0	0	0	0	1	0	0	0	16941	1580	55	4	1634	4	UBN1	16	4921188	Missense_Mutation	SNP	T	TCGA-LN-A4A3-01A-11D-A27G-09	1488144	4921188	85433565	81	30569											
ABCC6	368	genome.wustl.edu	37	chr16	16271331	16271331	+	Silent	SNP	C	C	T	0	0	0	1	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	ccttctcctctatctcctggCtgtctggcttgatccagaag	5	14	8	14	0	4	2	0	1	4	1	7	2	5	2	4	2	0	2	4	2	2	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:16271331C>T	ENST00000205557.7	-	19	2597	c.2568G>A	c.(2566-2568)caG>caA	p.Q856Q		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	856					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)	TATCTCCTGGCTGTCTGGCTT	0.577																																																	0													99	85	90					16																	16271331		2197	4300	6497	SO:0001819	synonymous_variant	0			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.2568G>A	16.37:g.16271331C>T			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.Q856	ENST00000205557.7	37	c.2568	CCDS10568.1	16																																																																																			ABCC6	-	tigrfam_Multidrug-R_assoc	ENSG00000091262		0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	-	0	58	0	C			16271331	-1	tier1	-	no_errors	ENST00000205557	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.930	T	T	16271331	C	T	16271331	2	4	113	1	0	0	0	0	0	0	0	1	57	796	28	3		3	ABCC6	16	16271331	Silent	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	11350143	16271331	74083422	82	30570											
SMG1	23049	genome.wustl.edu	37	chr16	18858815	18858815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggactctcttcacctcatCttcaagctgctgaattcgtc	7	14	6	14	1	5	1	3	1	2	0	8	2	5	2	1	1	2	2	1	1	2	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:18858815C>T	ENST00000446231.2	-	38	6368	c.5956G>A	c.(5956-5958)Gat>Aat	p.D1986N	SMG1_ENST00000389467.3_Missense_Mutation_p.D1986N			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1986					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						TTCACCTCATCTTCAAGCTGC	0.473																																																	0													141	143	142					16																	18858815		2060	4214	6274	SO:0001583	missense	0			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.5956G>A	16.37:g.18858815C>T	ENSP00000402515:p.Asp1986Asn		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.D1986N	ENST00000446231.2	37	c.5956	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944869	0.73672	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01119	5.31;5.31	5.66	5.66	0.87406	Armadillo-type fold (1);	0.083414	0.52532	D	0.000077	T	0.03739	0.0106	L	0.27053	0.805	0.51482	D	0.999929	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.984	T	0.69117	-0.5230	10	0.31617	T	0.26	.	19.7475	0.96257	0.0:1.0:0.0:0.0	.	1846;1986	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	N	1986	ENSP00000402515:D1986N;ENSP00000374118:D1986N	ENSP00000374118:D1986N	D	-	1	0	SMG1	18766316	1.000000	0.71417	0.961000	0.40146	0.954000	0.61252	7.783000	0.85696	2.667000	0.90743	0.591000	0.81541	GAT	SMG1	-	superfamily_ARM-type_fold	ENSG00000157106		0.473	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	-	0	38	0	C	NM_015092		18858815	-1	tier1	-	no_errors	ENST00000389467	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T	T	18858815	C	T	18858815	3	4	113	1	0	0	0	0	1	0	0	0	14840	913	32	3	5133	3	SMG1	16	18858815	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	2587484	18858815	71495938	83	30571											
TBC1D10B	26000	genome.wustl.edu	37	chr16	30370527	30370527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcccagacacgcagcacCgacgcccagggcagggtgcg	9	3	14	15	4	0	1	0	0	0	1	1	2	1	1	3	2	2	3	3	2	0	0			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:30370527C>T	ENST00000409939.3	-	7	1688	c.1608G>A	c.(1606-1608)tcG>tcA	p.S536S	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	536	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CACGCAGCACCGACGCCCAGG	0.627																																																	0													31	28	29					16																	30370527		2197	4297	6494	SO:0001819	synonymous_variant	0			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1608G>A	16.37:g.30370527C>T			B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S536	ENST00000409939.3	37	c.1608	CCDS10676.2	16																																																																																			TBC1D10B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000169221		0.627	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	-	0	30	0	C	NM_015527		30370527	-1	tier1	-	no_errors	ENST00000409939	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.797	T	T	30370527	C	T	30370527	2	4	113	1	0	0	0	0	0	0	0	1	15646	639	23	1		1	TBC1D10B	16	30370527	Silent	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	11511712	30370527	59984226	84	30572											
CHD9	80205	genome.wustl.edu	37	chr16	53262985	53262985	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacgattcaaattgagacaAgcacaaagagcacatttttt	18	10	6	7	1	1	2	1	1	0	2	1	4	1	2	0	0	3	2	0	0	4	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:53262985A>G	ENST00000398510.3	+	7	2346	c.2259A>G	c.(2257-2259)caA>caG	p.Q753Q	CHD9_ENST00000447540.1_Silent_p.Q753Q|CHD9_ENST00000566029.1_Silent_p.Q753Q|CHD9_ENST00000564845.1_Silent_p.Q753Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	753	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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)				AATTGAGACAAGCACAAAGAG	0.328																																																	0													33	29	30					16																	53262985		1806	4072	5878	SO:0001819	synonymous_variant	0			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.2259A>G	16.37:g.53262985A>G			B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q753	ENST00000398510.3	37	c.2259		16																																																																																			CHD9	-	smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000177200		0.328	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1		0	55	0	A	NM_025134		53262985	1			no_errors	ENST00000398510	ensembl	human	known	74_37	silent	10.34	26	3	SNP	1.000	G	G	53262985	A	G	53262985	2	3	113	1	0	0	0	0	0	0	0	1	3339	69	3	4		4	CHD9	16	53262985	Silent	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	22892458	53262985	37091768	85	30573											
CDH11	1009	genome.wustl.edu	37	chr16	64984804	64984804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcagactttgatggtgaggGtgttggtgctactcatgggc	6	12	16	7	1	1	3	1	2	0	1	1	3	1	3	0	4	2	3	0	4	1	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:64984804G>A	ENST00000268603.4	-	12	2375	c.1760C>T	c.(1759-1761)aCc>aTc	p.T587I	CDH11_ENST00000566827.1_Missense_Mutation_p.T461I|CDH11_ENST00000394156.3_Missense_Mutation_p.T587I	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	587	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|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)		GATGGTGAGGGTGTTGGTGCT	0.622			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													117	95	102					16																	64984804		2203	4300	6503	SO:0001583	missense	0			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.1760C>T	16.37:g.64984804G>A	ENSP00000268603:p.Thr587Ile		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T587I	ENST00000268603.4	37	c.1760	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	G	31	5.066077	0.93898	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.63744	1.92;-0.06	5.7	5.7	0.88788	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79575	0.4469	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.847	T	0.80446	-0.1379	10	0.66056	D	0.02	.	18.8196	0.92090	0.0:0.0:1.0:0.0	.	587;587	P55287-2;P55287	.;CAD11_HUMAN	I	587;587;570	ENSP00000268603:T587I;ENSP00000377711:T587I	ENSP00000268603:T587I	T	-	2	0	CDH11	63542305	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.864000	0.99589	2.675000	0.91044	0.655000	0.94253	ACC	CDH11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.622	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	51	0	G	NM_033664		64984804	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	10.77	58	7	SNP	1.000	A	A	64984804	G	A	64984804	3	1	113	1	0	0	0	0	1	0	0	0	3104	1261	44	3	638	3	CDH11	16	64984804	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	11721819	64984804	25369949	86	30574											
SLC7A5	8140	genome.wustl.edu	37	chr16	87868078	87868078	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaccccgaagaagtagacGggcagcccgctgaggatgat	12	4	14	11	3	0	5	0	2	0	3	0	7	0	6	3	2	1	3	3	2	3	1			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:87868078G>C	ENST00000261622.4	-	9	1475	c.1410C>G	c.(1408-1410)ccC>ccG	p.P470P	SLC7A5_ENST00000565644.1_Silent_p.P204P|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	470					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)	AGAAGTAGACGGGCAGCCCGC	0.602																																																	0													49	41	44					16																	87868078		2187	4285	6472	SO:0001819	synonymous_variant	0			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.1410C>G	16.37:g.87868078G>C			Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.P470	ENST00000261622.4	37	c.1410	CCDS10964.1	16																																																																																			SLC7A5	-	pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	ENSG00000103257		0.602	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A5	HGNC	protein_coding	OTTHUMT00000269110.2	-	0	64	0	G	NM_003486		87868078	-1	tier1	-	no_errors	ENST00000261622	ensembl	human	known	74_37	silent	25.00	51	17	SNP	0.019	C	C	87868078	G	C	87868078	2	2	113	1	0	0	0	0	0	0	0	1	14745	1103	39	5		5	SLC7A5	16	87868078	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	22883274	87868078	2486675	87	30575											
MYO1C	4641	genome.wustl.edu	37	chr17	1378125	1378125	+	Missense_Mutation	SNP	A	A	G	1	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	cctccttaaggttccggaagAgaaggtcattgtttttgtcc	8	14	10	9	1	1	1	1	0	0	1	4	3	4	2	4	3	0	2	4	3	3	5			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:1378125A>G	ENST00000575158.1	-	16	1768	c.1592T>C	c.(1591-1593)cTc>cCc	p.L531P	MYO1C_ENST00000545534.2_Missense_Mutation_p.L542P|MYO1C_ENST00000359786.5_Missense_Mutation_p.L566P|MYO1C_ENST00000361007.2_Missense_Mutation_p.L531P|MYO1C_ENST00000438665.2_Missense_Mutation_p.L547P			Q12965	MYO1E_HUMAN	myosin IC	526	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTTCCGGAAGAGAAGGTCATT	0.632																																																	0													49	54	52					17																	1378125		2203	4300	6503	SO:0001583	missense	0			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1592T>C	17.37:g.1378125A>G	ENSP00000459174:p.Leu531Pro		Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L566P	ENST00000575158.1	37	c.1697	CCDS11003.1	17	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961668	0.74016	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95	5.14	4.07	0.47477	Myosin head, motor domain (2);	0.251700	0.41500	D	0.000871	D	0.97682	0.9240	H	0.99555	4.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.991	D	0.97177	0.9848	10	0.87932	D	0	.	10.3696	0.44046	0.9231:0.0:0.0769:0.0	.	542;566;547	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	P	566;547;547;531;542;531	ENSP00000352834:L566P;ENSP00000412197:L547P;ENSP00000354283:L531P;ENSP00000437685:L542P	ENSP00000352834:L566P	L	-	2	0	MYO1C	1324875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.079000	0.76829	1.094000	0.41399	0.533000	0.62120	CTC	MYO1C	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197879		0.632	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	-	0	40	0	A			1378125	-1	tier1	-	no_errors	ENST00000359786	ensembl	human	known	74_37	missense	45.65	25	21	SNP	1.000	G	G	1378125	A	G	1378125	3	3	113	1	0	0	0	0	1	0	0	0	10108	304	11	4	1562	4	MYO1C	17	1378125	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09		1378125	79817085	88	30576											
TP53	7157	genome.wustl.edu	37	chr17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagctcgtggtgaggctCccctttcttgcggagattct	4	12	14	11	2	2	2	0	1	2	1	4	3	3	2	2	4	2	3	2	4	0	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:7577058C>A	ENST00000269305.4	-	8	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E294*	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	294	Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*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)	TGGTGAGGCTCCCCTTTCTTG	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	87	Substitution - Nonsense(46)|Deletion - Frameshift(20)|Whole gene deletion(8)|Substitution - Missense(5)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex - compound substitution(1)	upper_aerodigestive_tract(17)|lung(14)|large_intestine(10)|breast(7)|urinary_tract(6)|oesophagus(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(2)|skin(2)|salivary_gland(1)|vulva(1)|soft_tissue(1)|endometrium(1)											109	95	100					17																	7577058		2203	4300	6503	SO:0001587	stop_gained	0	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.880G>T	17.37:g.7577058C>A	ENSP00000269305:p.Glu294*		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E294*	ENST00000269305.4	37	c.880	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.130179	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	4.29	0.51040	.	0.702099	0.13430	N	0.388474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.6918	13.5106	0.61511	0.0:0.8337:0.1663:0.0	.	.	.	.	X	294;294;294;294;294;283;162	.	ENSP00000269305:E294X	E	-	1	0	TP53	7517783	0.019000	0.18553	0.006000	0.13384	0.253000	0.25986	1.700000	0.37815	1.441000	0.47550	0.561000	0.74099	GAG	TP53	-	NULL	ENSG00000141510		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	483	0	C	NM_000546		7577058	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	45.24	207	171	SNP	0.015	A	A	7577058	C	A	7577058	4	1	113	1	0	0	0	0	0	1	0	0	16429	864	30	3	406	3	TP53	17	7577058	Nonsense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	6198933	7577058	73618152	89	30577											
ELAC2	60528	genome.wustl.edu	37	chr17	12898129	12898129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ggtgtccccggaatagaccaCtttccagccagaggtgtgca	9	8	12	12	1	0	2	0	0	0	2	2	3	2	3	5	3	2	1	5	3	2	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:12898129C>G	ENST00000338034.4	-	21	2220	c.1981G>C	c.(1981-1983)Gtg>Ctg	p.V661L	ELAC2_ENST00000395962.2_Missense_Mutation_p.V642L|ELAC2_ENST00000426905.3_Missense_Mutation_p.V621L	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	661					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						GAATAGACCACTTTCCAGCCA	0.602																																																	0													52	54	53					17																	12898129		2203	4300	6503	SO:0001583	missense	0			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.1981G>C	17.37:g.12898129C>G	ENSP00000337445:p.Val661Leu		B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	pfam_Beta-lactamas-like	p.V661L	ENST00000338034.4	37	c.1981	CCDS11164.1	17	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519003	0.27211	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.78481	-1.18;-1.18;-1.18	5.35	2.11	0.27256	Beta-lactamase-like (1);	0.291939	0.34338	N	0.004053	T	0.46092	0.1375	N	0.03967	-0.31	0.36960	D	0.893303	B;B;B;B;B;B;B;B	0.12630	0.003;0.001;0.002;0.001;0.006;0.001;0.002;0.001	B;B;B;B;B;B;B;B	0.15870	0.014;0.013;0.006;0.013;0.014;0.01;0.009;0.008	T	0.25745	-1.0123	10	0.10377	T	0.69	-18.944	3.3341	0.07094	0.1695:0.4098:0.3278:0.0929	.	621;644;642;459;661;421;646;289	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	L	621;661;642	ENSP00000405223:V621L;ENSP00000337445:V661L;ENSP00000379291:V642L	ENSP00000337445:V661L	V	-	1	0	ELAC2	12838854	0.206000	0.23470	0.803000	0.32268	0.788000	0.44548	0.227000	0.17795	0.814000	0.34374	0.655000	0.94253	GTG	ELAC2	-	pfam_Beta-lactamas-like	ENSG00000006744		0.602	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC2	HGNC	protein_coding	OTTHUMT00000129934.5	-	0	23	0	C			12898129	-1	tier1	-	no_errors	ENST00000338034	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.541	G	G	12898129	C	G	12898129	3	3	113	1	0	0	0	0	1	0	0	0	5063	565	20	5	515	5	ELAC2	17	12898129	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	5321071	12898129	68297081	90	30578											
PROCA1	6830	genome.wustl.edu	37	chr17	27031779	27031779	+	IGR	SNP	A	A	G	1	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	aggtgcaggctgtggcggacAcagtcagaggcgaaagggta	11	5	18	7	2	1	1	1	0	0	1	1	3	1	2	0	6	1	3	0	6	2	1			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:27031779A>G	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Silent_p.C58C|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Silent_p.C60C|PROCA1_ENST00000581289.1_Intron	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						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)					TGTGGCGGACACAGTCAGAGG	0.597																																																	0													123	101	108					17																	27031779		2203	4300	6503	SO:0001628	intergenic_variant	0			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			17.37:g.27031779A>G			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	pfam_PLipase_A2,superfamily_PLipase_A2_dom	p.C60	ENST00000314616.6	37	c.180	CCDS32596.1	17																																																																																			PROCA1	-	pfam_PLipase_A2,superfamily_PLipase_A2_dom	ENSG00000167525		0.597	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	39	0	A	NM_003170		27031779	-1	tier1	-	no_errors	ENST00000439862	ensembl	human	known	74_37	silent	18.64	48	11	SNP	0.853	G	G	27031779	A	G	27031779	1	3	113	0	1	0	0	0	0	0	0	0	12588	157	6	4		4	PROCA1	17	27031779	IGR	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	14133650	27031779	54163431	91	30579											
CPD	1362	genome.wustl.edu	37	chr17	28772820	28772820	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgaatcaaagaaaggaaaAggggctagcagcagcaccaa	20	3	11	7	0	1	2	1	1	0	1	1	3	1	3	1	3	3	4	1	3	8	1			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:28772820A>G	ENST00000225719.4	+	12	2731	c.2655A>G	c.(2653-2655)aaA>aaG	p.K885K	CPD_ENST00000543464.2_Silent_p.K638K	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	885	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAAAGGAAAAGGGGCTAGCA	0.413																																																	0													57	55	56					17																	28772820		2203	4300	6503	SO:0001819	synonymous_variant	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2655A>G	17.37:g.28772820A>G			B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.K885	ENST00000225719.4	37	c.2655	CCDS11257.1	17																																																																																			CPD	-	smart_Peptidase_M14	ENSG00000108582		0.413	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	-	0	48	0	A	NM_001304		28772820	1	tier1	-	no_errors	ENST00000225719	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.929	G	G	28772820	A	G	28772820	2	3	113	1	0	0	0	0	0	0	0	1	3805	69	3	4		4	CPD	17	28772820	Silent	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	1741041	28772820	52422390	92	30580											
CCT6B	10693	genome.wustl.edu	37	chr17	33255125	33255125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaccaggagaatgttggtgGcaatcactgtgctaaggaaa	14	8	12	7	0	1	1	1	0	0	1	1	3	1	2	1	4	2	3	1	4	5	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:33255125G>A	ENST00000314144.5	-	14	1650	c.1535C>T	c.(1534-1536)gCc>gTc	p.A512V	CCT6B_ENST00000436961.3_Missense_Mutation_p.A467V|CCT6B_ENST00000421975.3_Missense_Mutation_p.A475V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	512					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				AATGTTGGTGGCAATCACTGT	0.398																																																	0													110	97	101					17																	33255125		2203	4300	6503	SO:0001583	missense	0			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1535C>T	17.37:g.33255125G>A	ENSP00000327191:p.Ala512Val		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.A512V	ENST00000314144.5	37	c.1535	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624501	0.87560	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	D;D;D	0.82893	-1.66;-1.66;-1.66	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.86543	0.5958	M	0.67517	2.055	0.80722	D	1	B;P;P	0.46020	0.215;0.735;0.871	B;P;P	0.50192	0.438;0.571;0.634	D	0.87919	0.2702	10	0.87932	D	0	-8.8186	16.5065	0.84273	0.0:0.0:1.0:0.0	.	467;475;512	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	V	475;512;467	ENSP00000398044:A475V;ENSP00000327191:A512V;ENSP00000400917:A467V	ENSP00000327191:A512V	A	-	2	0	CCT6B	30279238	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.166000	0.89665	2.834000	0.97654	0.655000	0.94253	GCC	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta	ENSG00000132141		0.398	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	-	0	93	0	G	NM_006584		33255125	-1	tier1	-	no_errors	ENST00000314144	ensembl	human	known	74_37	missense	37.36	57	34	SNP	1.000	A	A	33255125	G	A	33255125	3	1	113	1	0	0	0	0	1	0	0	0	2965	1203	42	3	61	3	CCT6B	17	33255125	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	4482305	33255125	47940085	93	30581											
GAS2L2	246176	genome.wustl.edu	37	chr17	34074204	34074204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgatggtcattgtaggctGggtctgtgagggtccatcct	5	13	15	8	0	2	2	1	2	1	0	4	2	4	2	2	4	0	3	2	4	1	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:34074204G>T	ENST00000254466.6	-	5	943	c.916C>A	c.(916-918)Cag>Aag	p.Q306K	GAS2L2_ENST00000587565.1_Missense_Mutation_p.Q290K	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	306					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTGTAGGCTGGGTCTGTGAG	0.612																																																	0													134	140	138					17																	34074204		2203	4300	6503	SO:0001583	missense	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.916C>A	17.37:g.34074204G>T	ENSP00000254466:p.Gln306Lys		Q8NHY4	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.Q306K	ENST00000254466.6	37	c.916	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959533	0.53400	.	.	ENSG00000132139	ENST00000254466	T	0.18502	2.21	4.83	4.83	0.62350	.	0.327598	0.27331	N	0.019857	T	0.34193	0.0889	L	0.59436	1.845	0.33577	D	0.599319	D	0.67145	0.996	D	0.63381	0.914	T	0.37776	-0.9691	10	0.35671	T	0.21	-8.0308	14.7861	0.69806	0.0:0.0:1.0:0.0	.	306	Q8NHY3	GA2L2_HUMAN	K	306	ENSP00000254466:Q306K	ENSP00000254466:Q306K	Q	-	1	0	GAS2L2	31098317	1.000000	0.71417	0.778000	0.31720	0.569000	0.35902	5.647000	0.67923	2.514000	0.84764	0.561000	0.74099	CAG	GAS2L2	-	NULL	ENSG00000132139		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	-	0	74	0	G	NM_139285		34074204	-1	tier1	-	no_errors	ENST00000254466	ensembl	human	known	74_37	missense	20.00	56	14	SNP	0.848	T	T	34074204	G	T	34074204	3	4	113	1	0	0	0	0	1	0	0	0	6272	1357	47	3	1734	3	GAS2L2	17	34074204	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	819079	34074204	47121006	94	30582											
CUEDC1	404093	genome.wustl.edu	37	chr17	55950050	55950050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccagagcgaggaggaagtcgCggttccgttgcagctccttc	7	8	14	12	4	0	1	0	0	0	1	4	4	2	3	3	3	3	4	3	3	1	3	rs546364600		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:55950050C>T	ENST00000577830.1	-	5	1171	c.758G>A	c.(757-759)cGc>cAc	p.R253H	CUEDC1_ENST00000578357.1_5'Flank|CUEDC1_ENST00000360238.2_Missense_Mutation_p.R253H|CUEDC1_ENST00000407144.2_Missense_Mutation_p.R253H|CUEDC1_ENST00000577840.1_Missense_Mutation_p.R116H	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	253										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GAGGAAGTCGCGGTTCCGTTG	0.617													C|||	1	0.000199681	0	0	5008	,	,		19334	0.001		0	False		,,,				2504	0																0													62	49	53					17																	55950050		2203	4300	6503	SO:0001583	missense	0			AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.758G>A	17.37:g.55950050C>T	ENSP00000462717:p.Arg253His		D3DTZ2|Q9NWD0	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.R253H	ENST00000577830.1	37	c.758	CCDS11599.1	17	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554534	0.65425	.	.	ENSG00000180891	ENST00000407144;ENST00000360238	T;T	0.25414	1.8;1.8	5.46	5.46	0.80206	.	0.051344	0.85682	D	0.000000	T	0.29652	0.0740	M	0.71581	2.175	0.80722	D	1	B	0.34147	0.438	B	0.23018	0.043	T	0.14924	-1.0455	10	0.66056	D	0.02	-37.2548	17.4943	0.87713	0.0:1.0:0.0:0.0	.	253	Q9NWM3	CUED1_HUMAN	H	253	ENSP00000384712:R253H;ENSP00000353373:R253H	ENSP00000353373:R253H	R	-	2	0	CUEDC1	53305049	0.997000	0.39634	0.867000	0.34043	0.490000	0.33462	3.576000	0.53878	2.561000	0.86390	0.655000	0.94253	CGC	CUEDC1	-	NULL	ENSG00000180891		0.617	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUEDC1	HGNC	protein_coding	OTTHUMT00000443305.1		0	77	0	C	NM_017949		55950050	-1			no_errors	ENST00000360238	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	55950050	C	T	55950050	3	4	113	1	0	0	0	0	1	0	0	0	4061	768	27	1	426	1	CUEDC1	17	55950050	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	21875846	55950050	25245160	95	30583											
KCNH6	81033	genome.wustl.edu	37	chr17	61613295	61613295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcagcgacccagcctcggGcccctcggtgcaggacaagt	7	4	14	16	4	0	0	0	0	0	0	2	2	0	1	4	4	3	2	4	4	1	0			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:61613295G>A	ENST00000583023.1	+	6	1378	c.1367G>A	c.(1366-1368)gGc>gAc	p.G456D	KCNH6_ENST00000314672.5_Missense_Mutation_p.G456D|KCNH6_ENST00000580652.1_Missense_Mutation_p.G456D|KCNH6_ENST00000581784.1_Intron|KCNH6_ENST00000456941.2_Intron	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	456					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCAGCCTCGGGCCCCTCGGTG	0.622																																																	0													61	48	52					17																	61613295		2203	4300	6503	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1367G>A	17.37:g.61613295G>A	ENSP00000463533:p.Gly456Asp		Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.G456D	ENST00000583023.1	37	c.1367	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031105	0.35797	.	.	ENSG00000173826	ENST00000314672	D	0.97480	-4.4	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	L	0.59967	1.855	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;0.998	D;D;D;D	0.91635	0.999;0.989;0.989;0.992	D	0.99081	1.0837	10	0.87932	D	0	.	17.0722	0.86577	0.0:0.0:1.0:0.0	.	333;456;456;456	B4DPJ3;B4DKC0;Q9H252;Q9H252-3	.;.;KCNH6_HUMAN;.	D	456	ENSP00000318212:G456D	ENSP00000318212:G456D	G	+	2	0	KCNH6	58967027	1.000000	0.71417	0.978000	0.43139	0.519000	0.34347	9.657000	0.98554	2.244000	0.73946	0.313000	0.20887	GGC	KCNH6	-	pfam_Ion_trans_dom	ENSG00000173826		0.622	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	-	0	72	0	G	NM_030779		61613295	1	tier1	-	no_errors	ENST00000583023	ensembl	human	known	74_37	missense	10.47	77	9	SNP	1.000	A	A	61613295	G	A	61613295	3	1	113	1	0	0	0	0	1	0	0	0	8063	1203	42	3	1389	3	KCNH6	17	61613295	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	5663245	61613295	19581915	96	30584											
KIAA0802	23255	genome.wustl.edu	37	chr18	8825247	8825247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcccccaggcactccCgggactatgtggagggggca	7	5	14	15	1	0	0	0	0	0	0	2	2	2	2	4	5	0	3	4	5	1	1			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr18:8825247C>T	ENST00000306329.11	+	13	4696	c.4696C>T	c.(4696-4698)Cgg>Tgg	p.R1566W	SOGA2_ENST00000359865.3_Missense_Mutation_p.R1247W|SOGA2_ENST00000306285.7_Missense_Mutation_p.R572W|SOGA2_ENST00000518815.1_Missense_Mutation_p.R572W|SOGA2_ENST00000517570.1_Missense_Mutation_p.R1206W|SOGA2_ENST00000400050.3_Missense_Mutation_p.R1206W																							CAGGCACTCCCGGGACTATGT	0.642																																																	0																																										SO:0001583	missense	0																														ENST00000306329.11:c.4696C>T	18.37:g.8825247C>T	ENSP00000305027:p.Arg1566Trp			Missense_Mutation	SNP	pfam_SOGA	p.R1247W	ENST00000306329.11	37	c.3739		18	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768797	0.31320	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.34072	2.4;2.4;2.4;1.38	5.24	3.2	0.36748	.	0.000000	0.37809	N	0.001927	T	0.52964	0.1767	M	0.63843	1.955	0.28222	N	0.926485	D;D	0.89917	1.0;1.0	D;D	0.69479	0.913;0.964	T	0.48980	-0.8986	10	0.72032	D	0.01	-12.7512	11.546	0.50694	0.6151:0.3849:0.0:0.0	.	1557;1247	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	W	1268;1206;1247;1206;572	ENSP00000429556:R1206W;ENSP00000352927:R1247W;ENSP00000382924:R1206W;ENSP00000303670:R572W	ENSP00000303670:R572W	R	+	1	2	CCDC165	8815247	1.000000	0.71417	0.999000	0.59377	0.032000	0.12392	3.045000	0.49838	1.166000	0.42689	0.655000	0.94253	CGG	SOGA2	-	NULL	ENSG00000168502		0.642	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	-	0	49	0	C			8825247	1	tier1	-	no_errors	ENST00000359865	ensembl	human	known	74_37	missense	26.47	50	18	SNP	1.000	T	T	8825247	C	T	8825247	3	4	113	1	0	0	0	0	1	0	0	0	8221	643	23	1	3789	1	KIAA0802	18	8825247	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09		8825247	69252001	97	30585											
ME2	4200	genome.wustl.edu	37	chr18	48450549	48450549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgatacttttgaagatGcagtgaatatactgaagcct	13	13	8	7	0	0	5	0	4	0	1	0	5	0	5	2	0	5	1	2	0	7	6			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr18:48450549G>A	ENST00000321341.5	+	11	1410	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	ME2_ENST00000382927.3_Missense_Mutation_p.A380T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	380					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTTTGAAGATGCAGTGAATAT	0.348																																																	0													100	99	99					18																	48450549		2203	4299	6502	SO:0001583	missense	0			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1138G>A	18.37:g.48450549G>A	ENSP00000321070:p.Ala380Thr		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.A380T	ENST00000321341.5	37	c.1138	CCDS11948.1	18	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659624	0.67586	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.34859	1.34;1.34	5.44	5.44	0.79542	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	M	0.69463	2.115	0.58432	D	0.99999	B;B	0.30526	0.283;0.098	B;B	0.41374	0.355;0.252	T	0.49082	-0.8976	10	0.62326	D	0.03	-24.2506	16.5355	0.84372	0.0:0.0:1.0:0.0	.	380;380	Q9BWL6;P23368	.;MAOM_HUMAN	T	380	ENSP00000321070:A380T;ENSP00000372384:A380T	ENSP00000321070:A380T	A	+	1	0	ME2	46704547	1.000000	0.71417	0.996000	0.52242	0.540000	0.34992	7.647000	0.83462	2.716000	0.92895	0.561000	0.74099	GCA	ME2	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd	ENSG00000082212		0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	-	0	55	0	G	NM_002396		48450549	1	tier1	-	no_errors	ENST00000321341	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	48450549	G	A	48450549	3	1	113	1	0	0	0	0	1	0	0	0	9456	1319	46	3	1176	3	ME2	18	48450549	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	39625302	48450549	29626699	98	30586											
MC4R	4160	genome.wustl.edu	37	chr18	58038995	58038995	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgaagaacatggtgatgagGcagatgatgacagcactact	14	8	13	6	0	0	7	0	5	0	2	0	7	0	7	0	2	3	2	0	2	3	1			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr18:58038995G>T	ENST00000299766.3	-	1	1006	c.588C>A	c.(586-588)tgC>tgA	p.C196*		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	196					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)	p.C196*(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TGGTGATGAGGCAGATGATGA	0.468																																																	1	Substitution - Nonsense(1)	endometrium(1)											89	82	84					18																	58038995		2203	4300	6503	SO:0001587	stop_gained	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.588C>A	18.37:g.58038995G>T	ENSP00000299766:p.Cys196*		B2RAC3|Q16317|Q3MIJ6	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.C196*	ENST00000299766.3	37	c.588	CCDS11976.1	18	.	.	.	.	.	.	.	.	.	.	G	39	7.618089	0.98393	.	.	ENSG00000166603	ENST00000299766	.	.	.	5.85	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4626	0.32936	0.2417:0.0:0.7583:0.0	.	.	.	.	X	196	.	ENSP00000299766:C196X	C	-	3	2	MC4R	56189975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.945000	0.29056	1.472000	0.48140	0.655000	0.94253	TGC	MC4R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	ENSG00000166603		0.468	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1		0	52	0	G	NM_005912		58038995	-1			no_errors	ENST00000299766	ensembl	human	known	74_37	nonsense	7.69	36	3	SNP	1.000	T	T	58038995	G	T	58038995	4	4	113	1	0	0	0	0	0	1	0	0	9404	1195	42	3	414	3	MC4R	18	58038995	Nonsense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	9588446	58038995	20038253	99	30587											
PIGN	23556	genome.wustl.edu	37	chr18	59755997	59755997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaaaggatacaaggaaaaAggccctacggatgtcatcca	17	5	9	10	1	1	0	1	0	0	0	2	3	2	3	2	4	2	0	2	4	6	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr18:59755997A>G	ENST00000357637.5	-	25	2777	c.2362T>C	c.(2362-2364)Ttt>Ctt	p.F788L	PIGN_ENST00000400334.3_Missense_Mutation_p.F788L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	788					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)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ACAAGGAAAAAGGCCCTACGG	0.388																																																	0													56	51	53					18																	59755997		1834	4075	5909	SO:0001583	missense	0			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2362T>C	18.37:g.59755997A>G	ENSP00000350263:p.Phe788Leu		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.F788L	ENST00000357637.5	37	c.2362	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	A	8.780	0.928118	0.18131	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.48201	0.82;0.82	5.78	4.6	0.57074	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.126603	0.56097	D	0.000032	T	0.33614	0.0869	N	0.20845	0.615	0.46298	D	0.998978	B;B	0.23854	0.092;0.092	B;B	0.35931	0.214;0.054	T	0.06752	-1.0809	10	0.06757	T	0.87	-17.1934	11.5623	0.50785	0.8659:0.0:0.0:0.1341	.	788;788	B2RCI8;O95427	.;PIGN_HUMAN	L	788	ENSP00000350263:F788L;ENSP00000383188:F788L	ENSP00000350263:F788L	F	-	1	0	PIGN	57906977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.321000	0.72881	1.080000	0.41073	0.482000	0.46254	TTT	PIGN	-	pfam_GPI_EtnP_transferase_1_C	ENSG00000197563		0.388	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2		0	25	0	A	NM_176787		59755997	-1			no_errors	ENST00000357637	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	G	G	59755997	A	G	59755997	3	3	113	1	0	0	0	0	1	0	0	0	11932	72	3	4	461	4	PIGN	18	59755997	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	1717002	59755997	18321251	100	30588											
C3	718	genome.wustl.edu	37	chr19	6693004	6693004	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttctgcttctccaggatCagccatttaacagccccgca	8	10	8	15	1	3	0	1	0	2	0	4	1	3	1	4	2	4	3	4	2	1	4			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:6693004C>T	ENST00000245907.6	-	26	3413	c.3321G>A	c.(3319-3321)ctG>ctA	p.L1107L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1107					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)	TCTCCAGGATCAGCCATTTAA	0.557																																																	0													113	119	117					19																	6693004		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3321G>A	19.37:g.6693004C>T			A7E236	Silent	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.L1107	ENST00000245907.6	37	c.3321	CCDS32883.1	19																																																																																			C3	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000125730		0.557	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	-	0	73	0	C	NM_000064		6693004	-1	tier1	-	no_errors	ENST00000245907	ensembl	human	known	74_37	silent	28.57	35	14	SNP	1.000	T	T	6693004	C	T	6693004	2	4	113	1	0	0	0	0	0	0	0	1	2211	813	29	3		3	C3	19	6693004	Silent	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09		6693004	52435979	101	30589											
COPE	11316	genome.wustl.edu	37	chr19	19010510	19010510	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcgctgggagcgtactgtAgcaccagcctgtcaaagtcg	9	7	14	11	3	1	0	1	0	0	0	2	1	1	1	2	2	4	4	2	2	3	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:19010510A>G	ENST00000262812.4	-	10	953	c.905T>C	c.(904-906)cTa>cCa	p.L302P	COPE_ENST00000351079.4_Missense_Mutation_p.L251P|COPE_ENST00000598969.1_5'UTR|COPE_ENST00000349893.4_Missense_Mutation_p.L250P|COPE_ENST00000600932.1_Missense_Mutation_p.L325P|CERS1_ENST00000542296.2_5'Flank	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	302					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						AGCGTACTGTAGCACCAGCCT	0.642																																																	0													65	61	62					19																	19010510		2203	4300	6503	SO:0001583	missense	0			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.905T>C	19.37:g.19010510A>G	ENSP00000262812:p.Leu302Pro		A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.L302P	ENST00000262812.4	37	c.905	CCDS12387.1	19	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177392	0.38413	.	.	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000349893;ENST00000538245	T;T;T	0.47177	0.85;0.85;1.48	3.56	3.56	0.40772	.	0.221526	0.43579	D	0.000551	T	0.49508	0.1561	L	0.54323	1.7	0.80722	D	1	P;P;B;P	0.48089	0.458;0.767;0.355;0.905	B;P;P;P	0.50162	0.432;0.633;0.516;0.556	T	0.43718	-0.9374	10	0.30854	T	0.27	-8.0933	11.2281	0.48897	1.0:0.0:0.0:0.0	.	302;250;251;302	Q53HJ6;A6NE29;A6NKA3;O14579	.;.;.;COPE_HUMAN	P	302;251;250;301	ENSP00000262812:L302P;ENSP00000345674:L251P;ENSP00000343134:L250P	ENSP00000262812:L302P	L	-	2	0	COPE	18871510	1.000000	0.71417	0.989000	0.46669	0.567000	0.35839	6.597000	0.74118	1.394000	0.46624	0.260000	0.18958	CTA	COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu	ENSG00000105669		0.642	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	-	0	133	0	A	NM_007263		19010510	-1	tier1	-	no_errors	ENST00000262812	ensembl	human	known	74_37	missense	9.59	132	14	SNP	0.997	G	G	19010510	A	G	19010510	3	3	113	1	0	0	0	0	1	0	0	0	3737	420	15	4	25	4	COPE	19	19010510	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	12317506	19010510	40118473	102	30590											
TSHZ3	57616	genome.wustl.edu	37	chr19	31769449	31769449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccctttttcatagcaGagttggtgaccttgatgaag	8	14	10	9	0	1	4	1	3	0	1	2	4	2	4	3	1	1	3	3	1	2	6			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:31769449G>T	ENST00000240587.4	-	2	1577	c.1250C>A	c.(1249-1251)tCt>tAt	p.S417Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	417					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)	p.S417F(1)|p.S234F(1)		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)					TTTCATAGCAGAGTTGGTGAC	0.572																																																	2	Substitution - Missense(2)	skin(2)											131	122	125					19																	31769449		2203	4300	6503	SO:0001583	missense	0			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.1250C>A	19.37:g.31769449G>T	ENSP00000240587:p.Ser417Tyr		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S417Y	ENST00000240587.4	37	c.1250	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601363	0.66445	.	.	ENSG00000121297	ENST00000240587	T	0.22743	1.94	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.17899	-1.0354	10	0.87932	D	0	-16.4251	19.3123	0.94195	0.0:0.0:1.0:0.0	.	417	Q63HK5	TSH3_HUMAN	Y	417	ENSP00000240587:S417Y	ENSP00000240587:S417Y	S	-	2	0	TSHZ3	36461289	1.000000	0.71417	0.987000	0.45799	0.920000	0.55202	9.441000	0.97557	2.548000	0.85928	0.655000	0.94253	TCT	TSHZ3	-	NULL	ENSG00000121297		0.572	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2		0	60	0	G	NM_020856		31769449	-1			no_errors	ENST00000240587	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	31769449	G	T	31769449	3	4	113	1	0	0	0	0	1	0	0	0	16673	942	33	3	1999	3	TSHZ3	19	31769449	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	12758939	31769449	27359534	103	30591											
EID2	163126	genome.wustl.edu	37	chr19	40030187	40030187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcttccacgaatcgcctgCggcgttcttcaagctcttgt	6	12	10	13	4	3	0	1	0	2	0	5	1	4	0	2	2	2	3	2	2	2	4			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:40030187C>T	ENST00000390658.2	-	1	683	c.533G>A	c.(532-534)cGc>cAc	p.R178H		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)			GAATCGCCTGCGGCGTTCTTC	0.498																																																	0													105	109	108					19																	40030187		1929	4156	6085	SO:0001583	missense	0			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.533G>A	19.37:g.40030187C>T	ENSP00000375073:p.Arg178His			Missense_Mutation	SNP	NULL	p.R178H	ENST00000390658.2	37	c.533	CCDS12540.2	19	.	.	.	.	.	.	.	.	.	.	.	27.7	4.851905	0.91355	.	.	ENSG00000176396	ENST00000390658;ENST00000539700	T	0.37411	1.2	3.59	3.59	0.41128	.	0.171732	0.28349	N	0.015667	T	0.52108	0.1714	L	0.59436	1.845	0.30251	N	0.794101	D	0.89917	1.0	D	0.73708	0.981	T	0.51772	-0.8663	10	0.62326	D	0.03	.	11.0732	0.48016	0.0:1.0:0.0:0.0	.	178	Q8N6I1	EID2_HUMAN	H	178;129	ENSP00000375073:R178H	ENSP00000375073:R178H	R	-	2	0	EID2	44722027	0.998000	0.40836	0.995000	0.50966	0.998000	0.95712	2.366000	0.44204	2.323000	0.78572	0.544000	0.68410	CGC	EID2	-	NULL	ENSG00000176396		0.498	EID2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	EID2	HGNC	protein_coding	OTTHUMT00000157251.1	-	0	65	0	C	NM_153232		40030187	-1	tier1	-	no_errors	ENST00000390658	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.996	T	T	40030187	C	T	40030187	3	4	113	1	0	0	0	0	1	0	0	0	5001	768	27	1	181	1	EID2	19	40030187	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	8260738	40030187	19098796	104	30592											
IRGC	56269	genome.wustl.edu	37	chr19	44223370	44223370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgtccaacctctcgccGgcccgctacgactttcccac	5	9	8	19	4	1	0	0	0	1	0	4	1	3	0	5	2	2	1	5	2	2	2	rs369487767		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:44223370G>A	ENST00000244314.5	+	2	859	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	220	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)				ACCTCTCGCCGGCCCGCTACG	0.701																																					Colon(189;350 2037 11447 13433 38914)												0								G		0,4402		0,0,2201	24	24	24		660	-10.4	0	19		24	1,8595		0,1,4297	no	coding-synonymous	IRGC	NM_019612.3		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		220/464	44223370	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	0			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.660G>A	19.37:g.44223370G>A			Q05BR8	Silent	SNP	pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase	p.P220	ENST00000244314.5	37	c.660	CCDS12629.1	19																																																																																			IRGC	-	pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase	ENSG00000124449		0.701	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGC	HGNC	protein_coding	OTTHUMT00000336191.1	-	0	12	0	G	NM_019612		44223370	1	tier1	-	no_errors	ENST00000244314	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.000	A	A	44223370	G	A	44223370	2	1	113	1	0	0	0	0	0	0	0	1	7865	1103	39	1		1	IRGC	19	44223370	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	4193183	44223370	14905613	105	30593											
ZNF582	147948	genome.wustl.edu	37	chr19	56895810	56895810	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagtctgatgttgaatcaActgagaacgatgactaaagg	16	9	10	6	1	2	4	1	4	1	1	2	6	2	4	0	1	3	1	0	1	6	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:56895810A>C	ENST00000301310.4	-	5	1134	c.976T>G	c.(976-978)Ttg>Gtg	p.L326V	ZNF582_ENST00000586929.1_Missense_Mutation_p.L326V|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	326					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)		TGTTGAATCAACTGAGAACGA	0.388																																					Ovarian(183;1887 2032 4349 30507 51343)												0													94	93	94					19																	56895810		2203	4300	6503	SO:0001583	missense	0			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.976T>G	19.37:g.56895810A>C	ENSP00000301310:p.Leu326Val		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L326V	ENST00000301310.4	37	c.976	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368174	0.61513	.	.	ENSG00000018869	ENST00000301310	T	0.12255	2.7	4.04	-8.08	0.01094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28958	N	0.013591	T	0.39279	0.1072	M	0.90082	3.085	0.09310	N	1	D;D	0.76494	0.999;0.965	D;P	0.85130	0.997;0.721	T	0.55755	-0.8091	10	0.87932	D	0	.	19.1948	0.93682	0.1441:0.0:0.8559:0.0	.	326;357	Q96NG8;B4DQZ9	ZN582_HUMAN;.	V	326	ENSP00000301310:L326V	ENSP00000301310:L326V	L	-	1	2	ZNF582	61587622	0.000000	0.05858	0.000000	0.03702	0.295000	0.27426	-0.541000	0.06099	-1.892000	0.01108	-0.250000	0.11733	TTG	ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000018869		0.388	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	-	0	59	0	A	NM_144690		56895810	-1	tier1	-	no_errors	ENST00000301310	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.000	C	C	56895810	A	C	56895810	3	2	113	1	0	0	0	0	1	0	0	0	18062	40	2	4	581	4	ZNF582	19	56895810	Missense_Mutation	SNP	A	TCGA-LN-A4A3-01A-11D-A27G-09	12672440	56895810	2233173	106	30594											
PLCB4	5332	genome.wustl.edu	37	chr20	9440415	9440415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaaagctactcatcaatgCccacgagcagcaaacccagc	16	4	7	14	1	2	0	2	0	0	0	2	2	2	0	2	0	7	3	2	0	5	1			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:9440415C>T	ENST00000378493.1	+	31	3185	c.3170C>T	c.(3169-3171)gCc>gTc	p.A1057V	PLCB4_ENST00000334005.3_Missense_Mutation_p.A1057V|PLCB4_ENST00000414679.2_Missense_Mutation_p.A1069V|PLCB4_ENST00000378501.2_Missense_Mutation_p.A1057V|PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000378473.3_Missense_Mutation_p.A1069V|PLCB4_ENST00000278655.4_Missense_Mutation_p.A1057V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1057					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						CTCATCAATGCCCACGAGCAG	0.473																																																	0													51	45	47					20																	9440415		2203	4300	6503	SO:0001583	missense	0				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.3170C>T	20.37:g.9440415C>T	ENSP00000367754:p.Ala1057Val		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.A1057V	ENST00000378493.1	37	c.3170	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423171	0.25639	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.65	5.65	0.86999	.	0.335973	0.31784	N	0.007062	T	0.26048	0.0635	N	0.11870	0.19	0.36534	D	0.870908	B;B;B;B	0.09022	0.002;0.002;0.0;0.002	B;B;B;B	0.12837	0.006;0.004;0.0;0.008	T	0.18840	-1.0324	10	0.27785	T	0.31	.	12.9854	0.58588	0.0:0.9261:0.0:0.0738	.	1069;904;1057;1057	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	V	1057;1069;1057;1057;1057;905	ENSP00000334105:A1057V;ENSP00000367734:A1069V;ENSP00000278655:A1057V;ENSP00000367754:A1057V;ENSP00000367762:A1057V;ENSP00000390616:A905V	ENSP00000278655:A1057V	A	+	2	0	PLCB4	9388415	0.998000	0.40836	0.624000	0.29186	0.425000	0.31504	3.400000	0.52594	2.647000	0.89833	0.655000	0.94253	GCC	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.473	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	-	0	26	0	C			9440415	1	tier1	-	no_errors	ENST00000334005	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.625	T	T	9440415	C	T	9440415	3	4	113	1	0	0	0	0	1	0	0	0	12069	739	26	3	3332	3	PLCB4	20	9440415	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09		9440415	53585105	107	30595											
SEL1L2	80343	genome.wustl.edu	37	chr20	13867034	13867034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagattttcaggtctttccGttagtctcactttttccact	6	19	5	11	1	4	1	3	0	2	1	7	1	6	1	2	1	0	1	2	1	1	6	rs139504161	byFrequency	TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:13867034G>T	ENST00000284951.5	-	9	874	c.800C>A	c.(799-801)aCg>aAg	p.T267K	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.T267K			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	267						integral component of membrane (GO:0016021)		p.T267M(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGGTCTTTCCGTTAGTCTCAC	0.373																																																	1	Substitution - Missense(1)	ovary(1)											131	120	123					20																	13867034		1837	4095	5932	SO:0001583	missense	0			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.800C>A	20.37:g.13867034G>T	ENSP00000284951:p.Thr267Lys		B4DXX5	Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.T267K	ENST00000284951.5	37	c.800		20	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543456	0.65198	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.23147	1.92;2.25	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000003	T	0.27594	0.0678	N	0.22421	0.69	0.42859	D	0.994108	B;D	0.58970	0.105;0.984	B;P	0.51999	0.052;0.687	T	0.01198	-1.1421	10	0.28530	T	0.3	-15.1749	15.5171	0.75833	0.0:0.0:1.0:0.0	.	267;267	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	K	267	ENSP00000367312:T267K;ENSP00000284951:T267K	ENSP00000284951:T267K	T	-	2	0	SEL1L2	13815034	0.994000	0.37717	1.000000	0.80357	0.953000	0.61014	2.855000	0.48333	2.732000	0.93576	0.555000	0.69702	ACG	SEL1L2	-	NULL	ENSG00000101251		0.373	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3		0	53	0	G	NM_025229		13867034	-1			no_errors	ENST00000284951	ensembl	human	known	74_37	missense	6.67	55	4	SNP	0.999	T	T	13867034	G	T	13867034	3	4	113	1	0	0	0	0	1	0	0	0	14056	1145	40	2	1314	2	SEL1L2	20	13867034	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	4426619	13867034	49158486	108	30596											
ZNF341	84905	genome.wustl.edu	37	chr20	32377396	32377396	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacatcctctcccactctggTaagtggctcttgggcctgct	5	12	9	15	0	3	0	0	0	3	0	5	0	4	0	3	3	1	3	3	3	1	2			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:32377396T>A	ENST00000375200.1	+	14	2400		c.e14+2		ZNF341_ENST00000342427.2_Splice_Site|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341						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(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCACTCTGGTAAGTGGCTCT	0.562																																																	0													77	64	69					20																	32377396		2203	4300	6503	SO:0001630	splice_region_variant	0			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2035+2T>A	20.37:g.32377396T>A			A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Splice_Site	SNP	-	e14+2	ENST00000375200.1	37	c.2035+2		20	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054022	0.75960	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.74	0.69445	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF341	31841057	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.525000	0.81892	2.141000	0.66446	0.454000	0.30748	.	ZNF341	-	-	ENSG00000131061		0.562	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		-	0	50	0	T		Intron	32377396	1	tier1	-	no_errors	ENST00000375200	ensembl	human	known	74_37	splice_site	43.10	33	25	SNP	1.000	A	A	32377396	T	A	32377396	5	1	113	1	0	0	0	0	0	0	1	0	17905	1652	57	5	2070	5	ZNF341	20	32377396	Splice_Site	SNP	T	TCGA-LN-A4A3-01A-11D-A27G-09	18510362	32377396	30648124	109	30597											
SERINC3	10955	genome.wustl.edu	37	chr20	43142614	43142614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaatgaggcgagtcaccGtggaattcttactgttagga	12	11	11	7	2	2	1	1	1	1	0	2	4	2	3	1	3	1	1	1	3	5	4			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:43142614G>A	ENST00000342374.4	-	2	264	c.107C>T	c.(106-108)aCg>aTg	p.T36M	SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000541235.1_De_novo_Start_InFrame|SERINC3_ENST00000255175.1_Missense_Mutation_p.T36M	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	36					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)			GCGAGTCACCGTGGAATTCTT	0.473																																																	0													204	174	184					20																	43142614		2203	4300	6503	SO:0001583	missense	0			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.107C>T	20.37:g.43142614G>A	ENSP00000340243:p.Thr36Met		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	pfam_TMS_TDE	p.T36M	ENST00000342374.4	37	c.107	CCDS13333.1	20	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261271	0.59431	.	.	ENSG00000132824	ENST00000255175;ENST00000342374	T;T	0.15139	2.45;2.45	5.34	4.39	0.52855	.	0.157390	0.56097	D	0.000039	T	0.34106	0.0886	M	0.67700	2.07	0.80722	D	1	D;D	0.69078	0.997;0.974	P;P	0.62649	0.905;0.627	T	0.04229	-1.0967	10	0.34782	T	0.22	.	11.4073	0.49904	0.1458:0.0:0.8542:0.0	.	36;36	Q53GK8;Q13530	.;SERC3_HUMAN	M	36	ENSP00000255175:T36M;ENSP00000340243:T36M	ENSP00000255175:T36M	T	-	2	0	SERINC3	42576028	1.000000	0.71417	0.845000	0.33349	0.226000	0.24999	7.873000	0.87193	1.376000	0.46267	-0.251000	0.11542	ACG	SERINC3	-	pfam_TMS_TDE	ENSG00000132824		0.473	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3	-	0	64	0	G	NM_006811		43142614	-1	tier1	-	no_errors	ENST00000255175	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.997	A	A	43142614	G	A	43142614	3	1	113	1	0	0	0	0	1	0	0	0	14126	1145	40	1	1350	1	SERINC3	20	43142614	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	10765218	43142614	19882906	110	30598											
PTPN1	5770	genome.wustl.edu	37	chr20	49195059	49195059	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactttcttttcaaagtcCgagagtcagggtcactcagc	10	12	9	10	1	5	2	4	1	1	1	6	3	6	2	1	1	2	0	1	1	2	3	rs370578341		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:49195059C>T	ENST00000371621.3	+	6	769	c.595C>T	c.(595-597)Cga>Tga	p.R199*	PTPN1_ENST00000541713.1_Nonsense_Mutation_p.R126*|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	199	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)	TTTCAAAGTCCGAGAGTCAGG	0.532																																																	0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	131	136	134		595	3.3	1	20		134	0,8600		0,0,4300	no	stop-gained	PTPN1	NM_002827.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		199/436	49195059	1,13005	2203	4300	6503	SO:0001587	stop_gained	0				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.595C>T	20.37:g.49195059C>T	ENSP00000360683:p.Arg199*		Q5TGD8|Q9BQV9|Q9NQQ4	Nonsense_Mutation	SNP	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R199*	ENST00000371621.3	37	c.595	CCDS13430.1	20	.	.	.	.	.	.	.	.	.	.	C	38	6.915953	0.97932	2.27E-4	0.0	ENSG00000196396	ENST00000371621;ENST00000541713	.	.	.	5.24	3.29	0.37713	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5777	0.27946	0.1855:0.6734:0.0:0.1411	.	.	.	.	X	199;126	.	ENSP00000360683:R199X	R	+	1	2	PTPN1	48628466	0.993000	0.37304	0.970000	0.41538	0.934000	0.57294	1.190000	0.32126	1.212000	0.43366	0.462000	0.41574	CGA	PTPN1	-	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000196396		0.532	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN1	HGNC	protein_coding	OTTHUMT00000079694.2	-	0	42	0	C			49195059	1	tier1	-	no_errors	ENST00000371621	ensembl	human	known	74_37	nonsense	8.22	67	6	SNP	0.969	T	T	49195059	C	T	49195059	4	4	113	1	0	0	0	0	0	1	0	0	12822	644	23	1	617	1	PTPN1	20	49195059	Nonsense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	6052445	49195059	13830461	111	30599											
KCNQ2	3785	genome.wustl.edu	37	chr20	62045497	62045497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcctcggtcacaaactcGcaggggcagctcttgtcatc	8	9	11	13	2	3	0	2	0	1	0	7	0	4	0	1	4	2	3	1	4	1	1	rs118192230|rs528539094		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:62045497G>A	ENST00000359125.2	-	14	1749	c.1575C>T	c.(1573-1575)tgC>tgT	p.C525C	KCNQ2_ENST00000360480.3_Silent_p.C497C|KCNQ2_ENST00000357249.2_Silent_p.C507C|KCNQ2_ENST00000370224.1_Silent_p.C497C|KCNQ2_ENST00000344462.4_Silent_p.C494C|KCNQ2_ENST00000354587.3_Silent_p.C497C|KCNQ2_ENST00000359689.1_Silent_p.C525C	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	525					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)	TCACAAACTCGCAGGGGCAGC	0.672													G|||	1	0.000199681	8e-04	0	5008	,	,		14680	0		0	False		,,,				2504	0																0													57	62	60					20																	62045497		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1575C>T	20.37:g.62045497G>A			O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.C497	ENST00000359125.2	37	c.1491	CCDS13520.1	20																																																																																			KCNQ2	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000075043		0.672	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	-	0	93	0	G	NM_172109		62045497	-1	tier1	-	no_errors	ENST00000354587	ensembl	human	known	74_37	silent	49.62	67	66	SNP	1.000	A	A	62045497	G	A	62045497	2	1	113	1	0	0	0	0	0	0	0	1	8110	1079	38	1		1	KCNQ2	20	62045497	Silent	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09	12850438	62045497	980023	112	30600											
CYYR1	116159	genome.wustl.edu	37	chr21	27852733	27852733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actattccaaaaacaatgccCgcaattgcagtgcccctaaa	15	8	5	13	1	0	0	0	0	0	0	1	0	1	0	4	0	4	2	4	0	7	4	rs200072933		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr21:27852733C>T	ENST00000299340.4	-	3	535	c.192G>A	c.(190-192)gcG>gcA	p.A64A	AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|CYYR1_ENST00000400043.3_Silent_p.A64A|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	64						integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						AAACAATGCCCGCAATTGCAG	0.433													C|||	1	0.000199681	0	0	5008	,	,		18048	0		0.001	False		,,,				2504	0																0								C		2,4404	4.2+/-10.8	0,2,2201	109	100	103		192	-8.6	0.7	21		103	0,8600		0,0,4300	no	coding-synonymous	CYYR1	NM_052954.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		64/155	27852733	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"cysteine and tyrosine-rich 1"	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.192G>A	21.37:g.27852733C>T			A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	pfam_CYYR1	p.A64	ENST00000299340.4	37	c.192	CCDS13578.1	21																																																																																			CYYR1	-	pfam_CYYR1	ENSG00000166265		0.433	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYYR1	HGNC	protein_coding	OTTHUMT00000171654.2		0	35	0	C	NM_052954		27852733	-1			no_errors	ENST00000299340	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.699	T	T	27852733	C	T	27852733	2	4	113	1	0	0	0	0	0	0	0	1	4220	639	23	1		1	CYYR1	21	27852733	Silent	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09		27852733	20277162	113	30601											
RIPK4	54101	genome.wustl.edu	37	chr21	43171399	43171399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacttggccagaccaaaatCagaaatctgcaacacagcca	16	5	7	13	0	2	2	1	0	1	2	2	2	2	2	3	1	3	2	3	1	4	1			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr21:43171399C>A	ENST00000352483.2	-	3	545	c.481G>T	c.(481-483)Gat>Tat	p.D161Y	RIPK4_ENST00000332512.3_Missense_Mutation_p.D161Y|RIPK4_ENST00000544709.1_Missense_Mutation_p.D98Y|RIPK4_ENST00000542057.1_Missense_Mutation_p.D98Y			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	161	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						AGACCAAAATCAGAAATCTGC	0.517																																																	0													115	104	108					21																	43171399		2203	4300	6503	SO:0001583	missense	0			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.481G>T	21.37:g.43171399C>A	ENSP00000330161:p.Asp161Tyr		Q96KH0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D161Y	ENST00000352483.2	37	c.481		21	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858235	0.71834	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000017	D	0.98273	0.9428	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99858	1.1079	10	0.87932	D	0	-34.4007	16.3904	0.83533	0.0:1.0:0.0:0.0	.	161	P57078-2	.	Y	161;161;98;98	ENSP00000332454:D161Y;ENSP00000330161:D161Y;ENSP00000441754:D98Y;ENSP00000442901:D98Y	ENSP00000332454:D161Y	D	-	1	0	RIPK4	42044468	1.000000	0.71417	0.970000	0.41538	0.656000	0.38851	7.241000	0.78201	2.088000	0.63022	0.561000	0.74099	GAT	RIPK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000183421		0.517	RIPK4-201	KNOWN	basic	protein_coding	RIPK4	HGNC	protein_coding		-	0	53	0	C	NM_020639		43171399	-1	tier1	-	no_errors	ENST00000352483	ensembl	human	known	74_37	missense	45.76	32	27	SNP	1.000	A	A	43171399	C	A	43171399	3	1	113	1	0	0	0	0	1	0	0	0	13428	826	29	3	1897	3	RIPK4	21	43171399	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09	15318666	43171399	4958496	114	30602											
CELSR1	9620	genome.wustl.edu	37	chr22	46793652	46793652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggctcgaggtacaggggtCgtccacatcacagccgtcct	7	7	14	13	3	1	0	1	0	0	0	5	1	3	0	3	5	2	2	3	5	1	1	rs141922879		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr22:46793652C>T	ENST00000262738.3	-	12	5619	c.5620G>A	c.(5620-5622)Gac>Aac	p.D1874N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1874	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	p.D1874Y(1)		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)		GTACAGGGGTCGTCCACATCA	0.642																																																	1	Substitution - Missense(1)	lung(1)						C	ASN/ASP	4,4400	6.2+/-15.9	0,4,2198	116	73	87		5620	-0.4	0.1	22	dbSNP_134	87	0,8598		0,0,4299	no	missense	CELSR1	NM_014246.1	23	0,4,6497	TT,TC,CC		0.0,0.0908,0.0308	benign	1874/3015	46793652	4,12998	2202	4299	6501	SO:0001583	missense	0			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.5620G>A	22.37:g.46793652C>T	ENSP00000262738:p.Asp1874Asn		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.D1874N	ENST00000262738.3	37	c.5620	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	2.627	-0.287240	0.05605	9.08E-4	0.0	ENSG00000075275	ENST00000262738	T	0.30981	1.51	4.16	-0.444	0.12245	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.231768	0.34002	N	0.004352	T	0.11623	0.0283	N	0.19112	0.55	0.80722	D	1	B;B	0.32324	0.364;0.01	B;B	0.24541	0.054;0.004	T	0.33137	-0.9880	10	0.02654	T	1	.	7.6198	0.28179	0.0:0.3487:0.0:0.6513	.	195;1874	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	N	1874	ENSP00000262738:D1874N	ENSP00000262738:D1874N	D	-	1	0	CELSR1	45172316	0.475000	0.25894	0.131000	0.22000	0.463000	0.32649	0.929000	0.28844	0.039000	0.15632	0.491000	0.48974	GAC	CELSR1	-	smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000075275		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	-	0	113	0	C	NM_014246		46793652	-1	tier1	rs141922879	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	19.79	77	19	SNP	0.878	T	T	46793652	C	T	46793652	3	4	113	1	0	0	0	0	1	0	0	0	3228	884	31	1	3520	1	CELSR1	22	46793652	Missense_Mutation	SNP	C	TCGA-LN-A4A3-01A-11D-A27G-09		46793652	4510914	115	30603											
MID1	4281	genome.wustl.edu	37	chrX	10417677	10417677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccagttattgttgcagcGgcagagcgcccaggaagcag	10	6	13	12	2	0	1	0	0	0	1	0	2	0	2	2	2	4	5	2	2	2	3			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chrX:10417677G>A	ENST00000317552.4	-	10	2135	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C	MID1_ENST00000380780.1_Missense_Mutation_p.R579C|MID1_ENST00000380779.1_Missense_Mutation_p.R579C|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380782.2_Intron|MID1_ENST00000453318.2_Missense_Mutation_p.R579C|MID1_ENST00000380785.1_Missense_Mutation_p.R579C|MID1_ENST00000380787.1_Missense_Mutation_p.R579C	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	579	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTGTTGCAGCGGCAGAGCGCC	0.537																																																	0													79	63	69					X																	10417677		2203	4300	6503	SO:0001583	missense	0			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1735C>T	X.37:g.10417677G>A	ENSP00000312678:p.Arg579Cys		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R579C	ENST00000317552.4	37	c.1735	CCDS14138.1	X	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330340	0.81690	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	L	0.47078	1.49	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.87578	0.998;0.845;0.997	T	0.68522	-0.5386	10	0.35671	T	0.21	.	18.5394	0.91022	0.0:0.0:1.0:0.0	.	579;579;529	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	C	579;579;579;579;579;579;529	ENSP00000414521:R579C;ENSP00000312678:R579C;ENSP00000370162:R579C;ENSP00000370156:R579C;ENSP00000370164:R579C;ENSP00000370157:R579C	ENSP00000312678:R579C	R	-	1	0	MID1	10377677	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.333000	0.79214	2.322000	0.78497	0.422000	0.28245	CGC	MID1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000101871		0.537	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1	-	0	11	0	G			10417677	-1	tier1	-	no_errors	ENST00000317552	ensembl	human	known	74_37	missense	63.16	7	12	SNP	1.000	A	A	10417677	G	A	10417677	3	1	113	1	0	0	0	0	1	0	0	0	9614	1116	39	1	272	1	MID1	23	10417677	Missense_Mutation	SNP	G	TCGA-LN-A4A3-01A-11D-A27G-09		10417677	144852883	116	30604											
CCDC27	148870	genome.wustl.edu	37	chr1	3677911	3677911	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagatcctgctgctccagGaggagagggaggccctgaag	10	5	17	9	0	0	3	0	1	0	2	2	7	2	5	3	5	2	2	3	5	1	0			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:3677911G>T	ENST00000294600.2	+	5	862	c.778G>T	c.(778-780)Gag>Tag	p.E260*		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	260										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCTGCTCCAGGAGGAGAGGGA	0.597																																																	0													79	75	77					1																	3677911		2203	4300	6503	SO:0001587	stop_gained	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.778G>T	1.37:g.3677911G>T	ENSP00000294600:p.Glu260*		Q5TBV3|Q96M50	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.E260*	ENST00000294600.2	37	c.778	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887118	0.72410	.	.	ENSG00000162592	ENST00000294600	.	.	.	3.75	1.59	0.23543	.	0.658156	0.12662	N	0.449577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-13.2621	3.5044	0.07685	0.1933:0.2607:0.546:0.0	.	.	.	.	X	260	.	ENSP00000294600:E260X	E	+	1	0	CCDC27	3667771	0.971000	0.33674	0.165000	0.22776	0.436000	0.31835	0.178000	0.16820	0.220000	0.20860	0.563000	0.77884	GAG	CCDC27	-	NULL	ENSG00000162592		0.597	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1	-	0	31	0	G	NM_152492		3677911	1	tier1	-	no_errors	ENST00000294600	ensembl	human	known	74_37	nonsense	47.83	12	11	SNP	0.541	T	T	3677911	G	T	3677911	4	4	114	1	0	0	0	0	0	1	0	0	2808	1175	41	3	796	3	CCDC27	1	3677911	Nonsense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		3677911	245572710	1	30605											
CASZ1	54897	genome.wustl.edu	37	chr1	10718607	10718607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtttacatcttcagtgacgGctggtttatctgtgggcagt	6	16	12	7	1	3	1	1	1	2	0	3	1	3	1	0	3	1	4	0	3	2	5			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:10718607G>A	ENST00000377022.3	-	7	1684	c.1367C>T	c.(1366-1368)gCc>gTc	p.A456V	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Missense_Mutation_p.A456V	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	456					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)		TTCAGTGACGGCTGGTTTATC	0.592																																																	0													89	84	86					1																	10718607		2203	4300	6503	SO:0001583	missense	0			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.1367C>T	1.37:g.10718607G>A	ENSP00000366221:p.Ala456Val		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A456V	ENST00000377022.3	37	c.1367	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887972	0.72410	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.48	3.57	0.40892	.	0.200019	0.42821	D	0.000644	T	0.33556	0.0867	N	0.22421	0.69	0.36645	D	0.877044	P;B;B;B	0.49253	0.921;0.274;0.274;0.008	B;B;B;B	0.40702	0.338;0.16;0.173;0.007	T	0.41520	-0.9504	9	0.48119	T	0.1	-6.7249	12.7377	0.57234	0.0805:0.0:0.9195:0.0	.	480;456;456;456	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	V	456	.	ENSP00000339445:A456V	A	-	2	0	CASZ1	10641194	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.329000	0.72920	1.032000	0.39892	0.655000	0.94253	GCC	CASZ1	-	NULL	ENSG00000130940		0.592	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2		0	72	0	G	NM_017766		10718607	-1			no_errors	ENST00000377022	ensembl	human	known	74_37	missense	7.81	58	5	SNP	1.000	A	A	10718607	G	A	10718607	3	1	114	1	0	0	0	0	1	0	0	0	2692	1203	42	3	3976	3	CASZ1	1	10718607	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	7040696	10718607	238532014	2	30606											
EPHA2	1969	genome.wustl.edu	37	chr1	16460076	16460076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatatgtgtgggggtccacGtatgtcttcaggggcttcag	6	13	14	8	1	4	0	3	0	1	0	5	0	5	0	1	4	0	2	1	4	2	4	rs148209354		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:16460076G>A	ENST00000358432.5	-	10	1918	c.1764C>T	c.(1762-1764)taC>taT	p.Y588Y		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	588					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)	GGGGGTCCACGTATGTCTTCA	0.582																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	74	70	71		1764	-10.8	0	1	dbSNP_134	71	0,8598		0,0,4299	no	coding-synonymous	EPHA2	NM_004431.3		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		588/977	16460076	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	0			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.1764C>T	1.37:g.16460076G>A			B5A968|Q8N3Z2	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.Y588	ENST00000358432.5	37	c.1764	CCDS169.1	1																																																																																			EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom	ENSG00000142627		0.582	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	-	0	39	0	G	NM_004431		16460076	-1	tier1	rs148209354	no_errors	ENST00000358432	ensembl	human	known	74_37	silent	50.00	25	25	SNP	0.126	A	A	16460076	G	A	16460076	2	1	114	1	0	0	0	0	0	0	0	1	5183	1140	40	1		1	EPHA2	1	16460076	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	5741469	16460076	232790545	3	30607											
AHDC1	27245	genome.wustl.edu	37	chr1	27875978	27875978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctagggaaggtggccaggccCcgctgggcaggcagggcact	7	4	18	12	1	0	0	0	0	0	0	0	1	0	1	3	7	0	4	3	7	2	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:27875978C>T	ENST00000247087.5	-	5	3245	c.2649G>A	c.(2647-2649)cgG>cgA	p.R883R	AHDC1_ENST00000374011.2_Silent_p.R883R			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	883							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)		TGGCCAGGCCCCGCTGGGCAG	0.697																																																	0													20	24	23					1																	27875978		2201	4293	6494	SO:0001819	synonymous_variant	0			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.2649G>A	1.37:g.27875978C>T			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	NULL	p.R883	ENST00000247087.5	37	c.2649	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.697	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	-	0	42	0	C			27875978	-1	tier1	-	no_errors	ENST00000247087	ensembl	human	known	74_37	silent	53.49	20	23	SNP	1.000	T	T	27875978	C	T	27875978	2	4	114	1	0	0	0	0	0	0	0	1	412	610	22	3		3	AHDC1	1	27875978	Silent	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	11415902	27875978	221374643	4	30608											
PTPRU	10076	genome.wustl.edu	37	chr1	29606613	29606613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgagaacaccatcaccGtgctgctgaggccggcacag	10	6	12	13	2	2	2	1	2	1	1	2	3	2	2	3	2	3	3	3	2	1	0			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:29606613G>A	ENST00000345512.3	+	11	1957	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.V610M|PTPRU_ENST00000428026.2_Missense_Mutation_p.V610M|PTPRU_ENST00000356870.3_Missense_Mutation_p.V610M|PTPRU_ENST00000373779.3_Missense_Mutation_p.V610M|PTPRU_ENST00000460170.2_Missense_Mutation_p.V610M	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	610	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CACCATCACCGTGCTGCTGAG	0.652																																																	0													58	60	59					1																	29606613		2203	4300	6503	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1828G>A	1.37:g.29606613G>A	ENSP00000334941:p.Val610Met		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V610M	ENST00000345512.3	37	c.1828	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021269	0.75275	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.37752	1.21;1.24;1.25;1.25;1.18;1.25	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	T	0.64811	0.2632	M	0.83603	2.65	0.53005	D	0.999967	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	0.67860	-0.5561	9	.	.	.	.	18.0534	0.89356	0.0:0.0:1.0:0.0	.	610;610;610;610;610	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	M	610	ENSP00000334941:V610M;ENSP00000362884:V610M;ENSP00000349333:V610M;ENSP00000314987:V610M;ENSP00000392332:V610M;ENSP00000432906:V610M	.	V	+	1	0	PTPRU	29479200	1.000000	0.71417	0.942000	0.38095	0.632000	0.37999	9.619000	0.98369	2.479000	0.83701	0.544000	0.68410	GTG	PTPRU	-	NULL	ENSG00000060656		0.652	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	-	0	46	0	G			29606613	1	tier1	-	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	35.71	27	15	SNP	1.000	A	A	29606613	G	A	29606613	3	1	114	1	0	0	0	0	1	0	0	0	12858	1145	40	1	1870	1	PTPRU	1	29606613	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	1730635	29606613	219644008	5	30609											
MACF1	23499	genome.wustl.edu	37	chr1	39905125	39905125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtccatgacttggaaagcCcaggcattgatccttccatc	9	12	8	12	0	0	2	0	2	0	0	4	3	3	3	4	2	1	1	4	2	1	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:39905125C>A	ENST00000372915.3	+	71	18184	c.18097C>A	c.(18097-18099)Cca>Aca	p.P6033T	MACF1_ENST00000289893.4_Missense_Mutation_p.P4577T|MACF1_ENST00000317713.7_Missense_Mutation_p.P4075T|MACF1_ENST00000539005.1_Missense_Mutation_p.P3945T|MACF1_ENST00000361689.2_Missense_Mutation_p.P4075T|MACF1_ENST00000567887.1_Missense_Mutation_p.P6171T|MACF1_ENST00000564288.1_Missense_Mutation_p.P6134T|MACF1_ENST00000545844.1_Missense_Mutation_p.P4075T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6033					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)			CTTGGAAAGCCCAGGCATTGA	0.443																																																	0													84	78	80					1																	39905125		2203	4300	6503	SO:0001583	missense	0			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.18097C>A	1.37:g.39905125C>A	ENSP00000362006:p.Pro6033Thr		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.P4075T	ENST00000372915.3	37	c.12223		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.123281|5.123281	0.94429|0.94429	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.51071	.|1.35;1.35;1.35;1.35;1.35;0.72	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000007|0.000007	T|T	0.72020|0.72020	0.3409|0.3409	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.996	T|T	0.73839|0.73839	-0.3856|-0.3856	6|10	.|0.72032	.|D	.|0.01	.|.	19.9826|19.9826	0.97334|0.97334	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|6033;4075	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	H|T	3078|4075;6033;4075;4075;3945;4577	.|ENSP00000439537:P4075T;ENSP00000362006:P6033T;ENSP00000354573:P4075T;ENSP00000313438:P4075T;ENSP00000444364:P3945T;ENSP00000289893:P4577T	.|ENSP00000289893:P4577T	P|P	+|+	2|1	0|0	MACF1|MACF1	39677712|39677712	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	2.734000|2.734000	0.93682|0.93682	0.650000|0.650000	0.86243|0.86243	CCC|CCA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	45	0	C	NM_033044		39905125	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A	A	39905125	C	A	39905125	3	1	114	1	0	0	0	0	1	0	0	0	9180	623	22	3	18644	3	MACF1	1	39905125	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	10298512	39905125	209345496	6	30610											
IFI44L	10964	genome.wustl.edu	37	chr1	79107493	79107493	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgttacagccctgcatttGagataagttgccttgattct	9	14	9	9	1	1	2	0	2	1	1	1	3	1	2	2	0	5	3	2	0	2	6			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:79107493G>T	ENST00000370751.5	+	9	1537	c.1358G>T	c.(1357-1359)tGa>tTa	p.*453L	IFI44L_ENST00000342282.3_Nonstop_Mutation_p.*195L|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	0					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCCTGCATTTGAGATAAGTTG	0.428																																																	0													288	264	272					1																	79107493		2203	4300	6503	SO:0001578	stop_lost	0			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1358G>T	1.37:g.79107493G>T	ENSP00000359787:p.*453Leuext*5		Q86TE1|Q96B64|Q99984	Nonstop_Mutation	SNP	superfamily_P-loop_NTPase	p.*453L	ENST00000370751.5	37	c.1358	CCDS687.2	1	.	.	.	.	.	.	.	.	.	.	G	4.274	0.050015	0.08243	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	.	.	.	3.16	1.23	0.21249	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5878	0.17283	0.2647:0.0:0.7353:0.0	.	.	.	.	L	453;195	.	.	X	+	2	2	IFI44L	78880081	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	0.381000	0.20619	0.350000	0.24002	0.557000	0.71058	TGA	IFI44L	-	NULL	ENSG00000137959		0.428	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44L	HGNC	protein_coding	OTTHUMT00000026834.3	-	0	75	0	G	NM_006820		79107493	1	tier1	-	no_errors	ENST00000370751	ensembl	human	known	74_37	nonstop	34.09	29	15	SNP	0.000	T	T	79107493	G	T	79107493	4	4	114	1	0	0	0	0	0	0	0	0	7545	1285	45	3	1388	3	IFI44L	1	79107493	Nonstop_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	39202368	79107493	170143128	7	30611											
TTLL7	79739	genome.wustl.edu	37	chr1	84399407	84399407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacattcgataggcatgcaGgacatgaggttctgctacaa	13	9	10	9	1	1	1	0	1	1	0	2	3	1	2	0	3	3	4	0	3	3	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:84399407G>T	ENST00000260505.8	-	9	1308	c.931C>A	c.(931-933)Ctg>Atg	p.L311M	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	311	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TAGGCATGCAGGACATGAGGT	0.393																																																	0													126	123	124					1																	84399407		2203	4300	6503	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.931C>A	1.37:g.84399407G>T	ENSP00000260505:p.Leu311Met		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.L311M	ENST00000260505.8	37	c.931	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737468	0.49045	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.04275	3.66	5.89	3.71	0.42584	.	0.135355	0.51477	D	0.000095	T	0.07188	0.0182	L	0.48260	1.515	0.41141	D	0.98595	D	0.61080	0.989	D	0.67900	0.954	T	0.16424	-1.0403	10	0.46703	T	0.11	.	11.2588	0.49069	0.2054:0.0:0.7946:0.0	.	311	Q6ZT98	TTLL7_HUMAN	M	311;88;311	ENSP00000260505:L311M	ENSP00000260505:L311M	L	-	1	2	TTLL7	84171995	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	5.396000	0.66297	1.404000	0.46819	-0.365000	0.07479	CTG	TTLL7	-	pfam_TTL/TTLL_fam	ENSG00000137941		0.393	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	-	0	56	0	G	NM_024686		84399407	-1	tier1	-	no_errors	ENST00000260505	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	84399407	G	T	84399407	3	4	114	1	0	0	0	0	1	0	0	0	16781	991	35	3	1784	3	TTLL7	1	84399407	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	5291914	84399407	164851214	8	30612											
TCHH	7062	genome.wustl.edu	37	chr1	152082500	152082500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcgtctcccgttcctctcCcagcagctgctcttcctcct	2	14	5	20	2	4	0	0	0	4	0	10	0	7	0	5	0	3	4	5	0	0	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:152082500C>T	ENST00000368804.1	-	2	3192	c.3193G>A	c.(3193-3195)Gga>Aga	p.G1065R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1065	10 X 30 AA 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)			cgttcctctcccagcagctgc	0.597																																																	0													112	116	114					1																	152082500		1996	4145	6141	SO:0001583	missense	0			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.3193G>A	1.37:g.152082500C>T	ENSP00000357794:p.Gly1065Arg		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G1065R	ENST00000368804.1	37	c.3193	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	5.119	0.207577	0.09704	.	.	ENSG00000159450	ENST00000368804	T	0.04970	3.52	2.61	-5.21	0.02815	.	.	.	.	.	T	0.00440	0.0014	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46775	-0.9167	9	0.16420	T	0.52	.	2.3202	0.04208	0.1335:0.3632:0.323:0.1803	.	1065	Q07283	TRHY_HUMAN	R	1065	ENSP00000357794:G1065R	ENSP00000357794:G1065R	G	-	1	0	TCHH	150349124	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.615000	0.00414	-1.405000	0.02048	-0.619000	0.04042	GGA	TCHH	-	NULL	ENSG00000159450		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	106	0	C	NM_007113		152082500	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	33.33	72	36	SNP	0.002	T	T	152082500	C	T	152082500	3	4	114	1	0	0	0	0	1	0	0	0	15747	632	22	3	2642	3	TCHH	1	152082500	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	67683093	152082500	97168121	9	30613											
FCGR3A	2214	genome.wustl.edu	37	chr1	161519619	161519619	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtaaacagcctttcccCagcccctccacccatctctg	9	8	6	18	0	1	0	0	0	1	0	4	1	3	1	7	1	3	1	7	1	3	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:161519619C>T	ENST00000436743.1	-	2	93				RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Intron|FCGR3A_ENST00000367969.3_Missense_Mutation_p.G6R|FCGR3A_ENST00000443193.1_Missense_Mutation_p.G6R|FCGR3A_ENST00000476031.1_5'Flank	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	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)		p.G6R(1)		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)	AGCCTTTCCCCAGCCCCTCCA	0.512																																																	1	Substitution - Missense(1)	lung(1)											117	109	112					1																	161519619		2203	4300	6503	SO:0001627	intron_variant	0			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	ENST00000436743.1:c.62-31G>A	1.37:g.161519619C>T			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.G6R	ENST00000436743.1	37	c.16	CCDS44266.1	1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768268	0.49680	.	.	ENSG00000203747	ENST00000367969;ENST00000443193	T;T	0.02015	4.5;4.52	4.32	-0.819	0.10829	.	.	.	.	.	T	0.00468	0.0015	N	0.14661	0.345	0.09310	N	1	B	0.26935	0.164	B	0.20767	0.031	T	0.46190	-0.9209	9	0.87932	D	0	.	3.9369	0.09310	0.1619:0.5224:0.0:0.3158	.	6	E9PG94	.	R	6	ENSP00000356946:G6R;ENSP00000392047:G6R	ENSP00000356946:G6R	G	-	1	0	FCGR3A	159786243	0.001000	0.12720	0.000000	0.03702	0.073000	0.16967	0.009000	0.13219	-0.251000	0.09542	0.591000	0.81541	GGG	FCGR3A	-	NULL	ENSG00000203747		0.512	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR3A	HGNC	protein_coding	OTTHUMT00000102169.2	-	0	75	0	C	NM_000569		161519619	-1	tier1	-	no_errors	ENST00000367969	ensembl	human	known	74_37	missense	20.59	54	14	SNP	0.000	T	T	161519619	C	T	161519619	1	4	114	0	1	0	0	0	0	0	0	0	5806	594	21	3		3	FCGR3A	1	161519619	Intron	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	9437119	161519619	87731002	10	30614											
CEP350	9857	genome.wustl.edu	37	chr1	180064685	180064685	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	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	cagtatttggtgccagtgggCaggaagaacttgctaagaga	12	9	14	6	0	0	2	0	0	0	2	0	4	0	3	1	3	3	3	1	3	4	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:180064685C>T	ENST00000367607.3	+	35	8957	c.8539C>T	c.(8539-8541)Cag>Tag	p.Q2847*	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2847					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						TGCCAGTGGGCAGGAAGAACT	0.428																																																	0													66	72	70					1																	180064685		2203	4300	6503	SO:0001587	stop_gained	0			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.8539C>T	1.37:g.180064685C>T	ENSP00000356579:p.Gln2847*		O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.Q2847*	ENST00000367607.3	37	c.8539	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.178710|9.178710	0.99091|0.99091	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607;ENST00000417046	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.44483	.|D	.|0.000460	T|.	0.75012|.	0.3792|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72100|.	-0.4392|.	3|.	.|.	.|.	.|.	.|.	18.4719|18.4719	0.90777|0.90777	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	1021|2847;311	.|.	.|.	A|Q	+|+	2|1	0|0	CEP350|CEP350	178331308|178331308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.175000|7.175000	0.77632|0.77632	2.808000|2.808000	0.96608|0.96608	0.585000|0.585000	0.79938|0.79938	GCA|CAG	CEP350	-	NULL	ENSG00000135837		0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	-	0	18	0	C	NM_014810		180064685	1	tier1	-	no_errors	ENST00000367607	ensembl	human	known	74_37	nonsense	36.00	16	9	SNP	1.000	T	T	180064685	C	T	180064685	4	4	114	1	0	0	0	0	0	1	0	0	3261	711	25	3	8673	3	CEP350	1	180064685	Nonsense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	18545066	180064685	69185936	11	30615											
PRELP	5549	genome.wustl.edu	37	chr1	203452624	203452624	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgtcatcccgccccgcatCcattacctctatctccagaa	8	10	4	19	2	3	1	1	0	2	1	6	1	5	1	7	0	1	1	7	0	3	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:203452624C>T	ENST00000343110.2	+	2	439	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	104					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGCCCCGCATCCATTACCTCT	0.562																																																	0													88	87	87					1																	203452624		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.312C>T	1.37:g.203452624C>T			Q6FG38	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.I104	ENST00000343110.2	37	c.312	CCDS1438.1	1																																																																																			PRELP	-	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	ENSG00000188783		0.562	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	HGNC	protein_coding	OTTHUMT00000087474.1	-	0	67	0	C	NM_002725		203452624	1	tier1	-	no_errors	ENST00000343110	ensembl	human	known	74_37	silent	33.87	41	21	SNP	1.000	T	T	203452624	C	T	203452624	2	4	114	1	0	0	0	0	0	0	0	1	12515	845	30	3		3	PRELP	1	203452624	Silent	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	23387939	203452624	45797997	12	30616											
SPATA17	128153	genome.wustl.edu	37	chr1	217947781	217947781	+	Missense_Mutation	SNP	A	A	G	1	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	gaagacctaaagttaagcagAaggactccaccagccttact	15	7	8	11	0	0	2	0	0	0	2	1	4	1	3	4	1	3	2	4	1	6	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:217947781A>G	ENST00000366933.4	+	7	680	c.625A>G	c.(625-627)Aag>Gag	p.K209E		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	209						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGTTAAGCAGAAGGACTCCAC	0.443																																																	0													104	97	100					1																	217947781		2203	4300	6503	SO:0001583	missense	0			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.625A>G	1.37:g.217947781A>G	ENSP00000355900:p.Lys209Glu		A5D6N2	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.K209E	ENST00000366933.4	37	c.625	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	A	8.600	0.886687	0.17540	.	.	ENSG00000162814	ENST00000366933	T	0.45276	0.9	5.45	-2.36	0.06663	.	0.981946	0.08351	N	0.959224	T	0.31888	0.0811	L	0.60455	1.87	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.37641	-0.9697	10	0.09084	T	0.74	-7.5521	7.4693	0.27340	0.2786:0.3478:0.3736:0.0	.	209	Q96L03	SPT17_HUMAN	E	209	ENSP00000355900:K209E	ENSP00000355900:K209E	K	+	1	0	SPATA17	216014404	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.246000	0.08878	-0.363000	0.08101	-0.376000	0.06991	AAG	SPATA17	-	NULL	ENSG00000162814		0.443	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	HGNC	protein_coding	OTTHUMT00000092433.2	-	0	44	0	A	NM_138796		217947781	1	tier1	-	no_errors	ENST00000366933	ensembl	human	known	74_37	missense	31.91	32	15	SNP	0.000	G	G	217947781	A	G	217947781	3	3	114	1	0	0	0	0	1	0	0	0	15049	247	9	4	651	4	SPATA17	1	217947781	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	14495157	217947781	31302840	13	30617											
LGALS8	3964	genome.wustl.edu	37	chr1	236704981	236704981	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtacccaagcatctagtCtggaactgacagagataagt	16	8	9	8	0	2	2	0	1	2	1	2	4	2	3	1	1	3	2	1	1	6	3	rs376845621		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr1:236704981C>T	ENST00000366584.4	+	6	1059	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	LGALS8_ENST00000341872.6_Silent_p.L165L|LGALS8_ENST00000450372.2_Silent_p.L165L|LGALS8_ENST00000526634.1_Silent_p.L165L|LGALS8_ENST00000525042.1_Intron|LGALS8_ENST00000416919.2_Intron|LGALS8_ENST00000527974.1_Silent_p.L165L|LGALS8_ENST00000526589.1_Silent_p.L165L|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000323938.6_Silent_p.L138L|LGALS8_ENST00000352231.2_Silent_p.L165L	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	165					plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCATCTAGTCTGGAACTGAC	0.284																																																	0								G	,,,	1,4395	2.1+/-5.4	0,1,2197	28	30	29		493,493,493,493	-4.6	0	1		29	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LGALS8	NM_006499.4,NM_201543.2,NM_201544.2,NM_201545.2	,,,	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	,,,	165/360,165/318,165/318,165/360	236704981	1,12987	2198	4296	6494	SO:0001819	synonymous_variant	0			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.493C>T	1.37:g.236704981C>T			O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Silent	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.L165	ENST00000366584.4	37	c.493	CCDS1612.1	1																																																																																			LGALS8	-	NULL	ENSG00000116977		0.284	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS8	HGNC	protein_coding	OTTHUMT00000096365.2	-	0	56	0	C	NM_006499		236704981	1	tier1	-	no_errors	ENST00000352231	ensembl	human	known	74_37	silent	39.62	32	21	SNP	0.001	T	T	236704981	C	T	236704981	2	4	114	1	0	0	0	0	0	0	0	1	8776	912	32	3		3	LGALS8	1	236704981	Silent	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	18757200	236704981	12545640	14	30618											
TPO	7173	genome.wustl.edu	37	chr2	1426896	1426896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgccatgtacgccacgatGcagaggtgagccttgcggag	9	6	14	12	4	0	2	0	1	0	1	0	4	0	3	4	2	4	2	4	2	1	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:1426896G>A	ENST00000345913.4	+	3	265	c.174G>A	c.(172-174)atG>atA	p.M58I	TPO_ENST00000329066.4_Missense_Mutation_p.M58I|TPO_ENST00000382269.3_Missense_Mutation_p.M58I|TPO_ENST00000539820.1_Missense_Mutation_p.M58I|TPO_ENST00000346956.3_Missense_Mutation_p.M58I|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.M58I|TPO_ENST00000382201.3_Missense_Mutation_p.M58I|TPO_ENST00000382198.1_Missense_Mutation_p.M58I|TPO_ENST00000337415.3_Missense_Mutation_p.M58I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	58					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)	ACGCCACGATGCAGAGGTGAG	0.597																																																	0													69	60	63					2																	1426896		2203	4300	6503	SO:0001583	missense	0				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.174G>A	2.37:g.1426896G>A	ENSP00000318820:p.Met58Ile		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.M58I	ENST00000345913.4	37	c.174	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437747	0.25900	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	3.72	3.72	0.42706	.	0.282519	0.34652	N	0.003786	T	0.40909	0.1136	L	0.50919	1.6	0.09310	N	1	B;B;B;B;B	0.33807	0.008;0.426;0.264;0.008;0.006	B;B;B;B;B	0.25405	0.007;0.06;0.033;0.007;0.004	T	0.30563	-0.9974	10	0.29301	T	0.29	-29.3298	11.2868	0.49226	0.0:0.0:1.0:0.0	.	58;58;58;58;58	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	I	58	ENSP00000371704:M58I;ENSP00000337263:M58I;ENSP00000318820:M58I;ENSP00000263886:M58I;ENSP00000332044:M58I;ENSP00000444840:M58I;ENSP00000329869:M58I;ENSP00000371636:M58I;ENSP00000390994:M58I;ENSP00000371633:M58I	ENSP00000329869:M58I	M	+	3	0	TPO	1405903	0.251000	0.23961	0.039000	0.18376	0.038000	0.13279	1.497000	0.35649	2.347000	0.79759	0.467000	0.42956	ATG	TPO	-	NULL	ENSG00000115705		0.597	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2		0	33	0	G	NM_000547		1426896	1			no_errors	ENST00000329066	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.046	A	A	1426896	G	A	1426896	3	1	114	1	0	0	0	0	1	0	0	0	16458	1319	46	3	180	3	TPO	2	1426896	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		1426896	241772477	15	30619											
ALMS1	7840	genome.wustl.edu	37	chr2	73613031	73613032	+	In_Frame_Ins	INS	-	-	GGA																															ctgccatggccgggcgagctINSggaggaggaggaggaggagg																								rs55889738|rs72319667|rs200709146|rs61156725|rs70965731|rs193922695|rs3074417	byFrequency	TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:73613031_73613032insGGA	ENST00000264448.6	+	1	146_147	c.35_36insGGA	c.(34-39)ctggag>ctGGAggag	p.28_29insE	ALMS1_ENST00000409009.1_In_Frame_Ins_p.28_29insE|ALMS1_ENST00000377715.1_In_Frame_Ins_p.28_29insE	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	28	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E27_E28delEE(1)|p.E28_A29insE(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCGGGCGAGCTggaggaggagg	0.698																																																	2	Insertion - In frame(1)|Deletion - In frame(1)	ovary(1)|breast(1)																																								SO:0001652	inframe_insertion	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.72_74dupGGA	2.37:g.73613038_73613040dupGGA	ENSP00000264448:p.Glu28_Glu28dup		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Ins	INS	NULL	p.16in_frame_insE	ENST00000264448.6	37	c.35_36	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.698	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1		0	20	0	-	NM_015120		73613032	1	tier1		no_errors	ENST00000264448	ensembl	human	known	74_37	in_frame_ins	22.22	21	6	INS	0.999:0.989	GGA	GGA	73613032	-	GGA	73613031	7	5	114	1	0	1	1	0	0	0	0	0	535	1580	55	0	37	0	ALMS1	2	73613031	In_Frame_Ins	INS	-	TCGA-LN-A4A4-01A-11D-A27G-09	72186135	73613031	169586342	16	30620											
ALMS1	7840	genome.wustl.edu	37	chr2	73827964	73827964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctctttaccggttatcCtgaggacagaaagttaaaaa	15	11	8	7	1	1	2	0	1	1	1	2	3	2	3	2	2	2	3	2	2	7	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:73827964C>T	ENST00000264448.6	+	18	11936	c.11825C>T	c.(11824-11826)cCt>cTt	p.P3942L	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.P3900L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3942					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						ACCGGTTATCCTGAGGACAGA	0.403																																																	0													93	93	93					2																	73827964		2203	4300	6503	SO:0001583	missense	0			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.11825C>T	2.37:g.73827964C>T	ENSP00000264448:p.Pro3942Leu		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.P3942L	ENST00000264448.6	37	c.11825	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.213971	0.00289	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.04706	3.57;3.57	5.3	-2.1	0.07210	.	1.041610	0.07590	N	0.921771	T	0.01454	0.0047	N	0.02916	-0.46	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.44112	-0.9349	10	0.02654	T	1	.	1.3395	0.02151	0.1593:0.3603:0.163:0.3174	.	3900;3942	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	L	3900;3942	ENSP00000386627:P3900L;ENSP00000264448:P3942L	ENSP00000264448:P3942L	P	+	2	0	ALMS1	73681472	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.379000	0.07437	-0.476000	0.06842	0.650000	0.86243	CCT	ALMS1	-	NULL	ENSG00000116127		0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0	39	0	C	NM_015120		73827964	1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.000	T	T	73827964	C	T	73827964	3	4	114	1	0	0	0	0	1	0	0	0	535	681	24	3	11895	3	ALMS1	2	73827964	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	214933	73827964	169371409	17	30621											
VAMP8	8673	genome.wustl.edu	37	chr2	85808700	85808700	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgccttttccccaacagtCtgagcacttcaagacgacat	10	11	6	14	1	3	2	1	1	2	1	4	3	4	2	3	0	3	1	3	0	2	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:85808700C>T	ENST00000263864.5	+	3	320	c.164C>T	c.(163-165)tCt>tTt	p.S55F	VAMP5_ENST00000306384.4_5'Flank|VAMP8_ENST00000409760.1_Splice_Site_p.V99V|VAMP8_ENST00000432071.1_Splice_Site_p.S29F	NM_003761.4	NP_003752.2	Q9BV40	VAMP8_HUMAN	vesicle-associated membrane protein 8	55	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				autophagic vacuole fusion (GO:0000046)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule membrane (GO:0030667)|SNARE complex (GO:0031201)				breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						CCCCAACAGTCTGAGCACTTC	0.453																																																	0													237	201	213					2																	85808700		2203	4300	6503	SO:0001630	splice_region_variant	0			AF053233	CCDS1979.1	2p12-p11.2	2013-02-13	2012-10-17		ENSG00000118640	ENSG00000118640		"Vesicle-associated membrane proteins"	12647	protein-coding gene	gene with protein product	"endobrevin"	603177				9878266, 9614193	Standard	NM_003761		Approved	EDB	uc002spt.4	Q9BV40	OTTHUMG00000130180	ENST00000263864.5:c.163-1C>T	2.37:g.85808700C>T			O60625|Q53SP9|Q6IB09	Missense_Mutation	SNP	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin,pfscan_Synaptobrevin	p.S55F	ENST00000263864.5	37	c.164	CCDS1979.1	2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158992	0.57368	.	.	ENSG00000118640	ENST00000432071;ENST00000263864	T;T	0.55588	0.51;0.51	5.55	4.68	0.58851	Synaptobrevin (3);	0.072864	0.56097	D	0.000030	T	0.58524	0.2128	M	0.89840	3.065	0.80722	D	1	B	0.30686	0.29	B	0.28139	0.086	T	0.64997	-0.6275	10	0.87932	D	0	-0.422	10.1859	0.42998	0.0:0.9112:0.0:0.0888	.	55	Q9BV40	VAMP8_HUMAN	F	29;55	ENSP00000407984:S29F;ENSP00000263864:S55F	ENSP00000263864:S55F	S	+	2	0	VAMP8	85662211	1.000000	0.71417	0.909000	0.35828	0.930000	0.56654	6.367000	0.73099	1.591000	0.50007	0.655000	0.94253	TCT	VAMP8	-	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin,pfscan_Synaptobrevin	ENSG00000118640		0.453	VAMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP8	HGNC	protein_coding	OTTHUMT00000252498.3	-	0	63	0	C	NM_003761	Missense_Mutation	85808700	1	tier1	-	no_errors	ENST00000263864	ensembl	human	known	74_37	missense	30.00	70	30	SNP	0.993	T	T	85808700	C	T	85808700	5	4	114	1	0	0	0	0	0	0	1	0	17167	927	32	3	174	3	VAMP8	2	85808700	Splice_Site	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	11980736	85808700	157390673	18	30622											
POLR1A	25885	genome.wustl.edu	37	chr2	86271425	86271425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctaggtgcttgatgatgCacctgtaaggacaccatcgg	9	10	11	11	1	1	2	0	2	1	0	2	3	1	3	3	3	2	3	3	3	2	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:86271425C>T	ENST00000263857.6	-	22	3350	c.2972G>A	c.(2971-2973)tGc>tAc	p.C991Y	POLR1A_ENST00000409681.1_Missense_Mutation_p.C991Y			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	991					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)	p.C991F(1)		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						CTTGATGATGCACCTGTAAGG	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)											88	94	92					2																	86271425		2106	4220	6326	SO:0001583	missense	0			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.2972G>A	2.37:g.86271425C>T	ENSP00000263857:p.Cys991Tyr		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.C991Y	ENST00000263857.6	37	c.2972	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869081	0.72065	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68903	-0.36;-0.36	5.69	5.69	0.88448	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.88112	0.6349	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91001	0.4842	10	0.87932	D	0	-21.1397	19.8154	0.96566	0.0:1.0:0.0:0.0	.	357;991	B7Z8X7;O95602	.;RPA1_HUMAN	Y	991	ENSP00000263857:C991Y;ENSP00000386300:C991Y	ENSP00000263857:C991Y	C	-	2	0	POLR1A	86124936	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.487000	0.81328	2.699000	0.92147	0.655000	0.94253	TGC	POLR1A	-	pfam_RNA_pol_Rpb1_5	ENSG00000068654		0.632	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2		0	31	0	C	NM_015425		86271425	-1			no_errors	ENST00000263857	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	86271425	C	T	86271425	3	4	114	1	0	0	0	0	1	0	0	0	12248	710	25	3	2242	3	POLR1A	2	86271425	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	462725	86271425	156927948	19	30623											
LYG1	129530	genome.wustl.edu	37	chr2	99901179	99901179	+	Silent	SNP	T	T	G	0	1	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	tactggtcaggggtccaggtTggaaacctcctctggatttc	7	12	12	10	0	2	0	1	0	1	0	5	2	4	2	3	6	2	1	3	6	2	3	rs112612184		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:99901179T>G	ENST00000409448.1	-	7	754	c.438A>C	c.(436-438)ccA>ccC	p.P146P	LYG1_ENST00000308528.4_Silent_p.P146P			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	146					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GGGTCCAGGTTGGAAACCTCC	0.458																																																	0													98	100	100					2																	99901179		2203	4300	6503	SO:0001819	synonymous_variant	0			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.438A>C	2.37:g.99901179T>G			Q53RV9	Silent	SNP	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	p.P146	ENST00000409448.1	37	c.438	CCDS2043.1	2																																																																																			LYG1	-	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23	ENSG00000144214		0.458	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LYG1	HGNC	protein_coding	OTTHUMT00000330315.1	-	0	32	0	T	NM_174898		99901179	-1	tier1	-	no_errors	ENST00000308528	ensembl	human	known	74_37	silent	34.69	32	17	SNP	1.000	G	G	99901179	T	G	99901179	2	3	114	1	0	0	0	0	0	0	0	1	9140	1799	63	4		4	LYG1	2	99901179	Silent	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	13629754	99901179	143298194	20	30624											
NPHP1	4867	genome.wustl.edu	37	chr2	110962506	110962506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctgattgcggcgccGcagggcctggagaggatctc	6	7	15	13	3	1	2	0	1	1	1	3	4	2	3	3	4	2	2	3	4	0	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:110962506G>A	ENST00000393272.3	-	1	137	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	NPHP1_ENST00000417665.1_Missense_Mutation_p.R14W|NPHP1_ENST00000418527.1_Missense_Mutation_p.R14W|NPHP1_ENST00000316534.4_Missense_Mutation_p.R14W|NPHP1_ENST00000355301.4_Missense_Mutation_p.R14W|NPHP1_ENST00000445609.2_Missense_Mutation_p.R14W	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	14					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						TTGCGGCGCCGCAGGGCCTGG	0.677																																																	0													45	44	44					2																	110962506		2203	4300	6503	SO:0001583	missense	0			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.40C>T	2.37:g.110962506G>A	ENSP00000376953:p.Arg14Trp		O14837	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.R14W	ENST00000393272.3	37	c.40	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300784	0.60195	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665;ENST00000418527	T;T;T;T;T	0.63913	0.06;0.07;0.06;-0.07;0.07	4.93	2.02	0.26589	.	0.234516	0.35555	N	0.003131	T	0.60418	0.2267	L	0.29908	0.895	0.32129	N	0.586997	D;D;D;D;D;D;D	0.76494	0.991;0.995;0.999;0.987;0.995;0.995;0.999	B;B;P;P;B;P;P	0.56700	0.446;0.446;0.804;0.556;0.446;0.648;0.736	T	0.67581	-0.5634	10	0.72032	D	0.01	-6.1781	10.6568	0.45680	0.0:0.0:0.4733:0.5266	.	14;14;14;14;14;14;14	B4DQY0;C9JNM7;C9J082;O15259-3;O15259;O15259-2;O15259-4	.;.;.;.;NPHP1_HUMAN;.;.	W	14	ENSP00000313169:R14W;ENSP00000389879:R14W;ENSP00000376953:R14W;ENSP00000347452:R14W;ENSP00000402176:R14W	ENSP00000313169:R14W	R	-	1	2	NPHP1	110319795	0.999000	0.42202	0.972000	0.41901	0.527000	0.34593	1.292000	0.33342	0.234000	0.21139	-1.404000	0.01136	CGG	NPHP1	-	NULL	ENSG00000144061		0.677	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	-	0	36	0	G	NM_000272		110962506	-1	tier1	-	no_errors	ENST00000316534	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.992	A	A	110962506	G	A	110962506	3	1	114	1	0	0	0	0	1	0	0	0	10618	1086	38	1	2241	1	NPHP1	2	110962506	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	11061327	110962506	132236867	21	30625											
BBS5	129880	genome.wustl.edu	37	chr2	170350315	170350315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgcaaatatgaatgataGttttaatgtcagtataccat	15	14	7	5	0	1	2	1	2	0	0	1	2	1	2	1	0	2	4	1	0	7	6			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:170350315G>T	ENST00000295240.3	+	7	963	c.587G>T	c.(586-588)aGt>aTt	p.S196I	BBS5_ENST00000392663.2_Missense_Mutation_p.S196I|BBS5_ENST00000554017.1_Missense_Mutation_p.S196I|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.S196I	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	196					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						ATGAATGATAGTTTTAATGTC	0.274									Bardet-Biedl syndrome																																								0													131	132	132					2																	170350315		2203	4296	6499	SO:0001583	missense	0	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.587G>T	2.37:g.170350315G>T	ENSP00000295240:p.Ser196Ile		D3DPC3|Q6PKN0	Missense_Mutation	SNP	pfam_BBL5,pfam_Kelch_1,smart_DM16_repeat,smart_Kelch_1	p.S196I	ENST00000295240.3	37	c.587	CCDS2233.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128518	0.77549	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.75260	1.14;1.14;-0.92;1.14	5.8	3.98	0.46160	.	0.071597	0.85682	D	0.000000	T	0.77778	0.4181	M	0.72894	2.215	0.80722	D	1	P;D;D	0.54772	0.942;0.96;0.968	P;P;P	0.51385	0.668;0.504;0.637	T	0.76239	-0.3032	10	0.27082	T	0.32	-13.0235	12.6521	0.56768	0.1352:0.0:0.8648:0.0	.	196;196;196	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	I	196	ENSP00000295240:S196I;ENSP00000452313:S196I;ENSP00000376431:S196I;ENSP00000424363:S196I	ENSP00000295240:S196I	S	+	2	0	BBS5;RP11-724O16.1	170058561	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.771000	0.74996	1.464000	0.47987	0.561000	0.74099	AGT	BBS5	-	pfam_BBL5,smart_DM16_repeat	ENSG00000163093		0.274	BBS5-001	KNOWN	basic|CCDS	protein_coding	BBS5	HGNC	protein_coding	OTTHUMT00000255265.2	-	0	65	0	G	NM_152384		170350315	1	tier1	-	no_errors	ENST00000554017	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T	T	170350315	G	T	170350315	3	4	114	1	0	0	0	0	1	0	0	0	1341	1029	36	3	613	3	BBS5	2	170350315	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	59387809	170350315	72849058	22	30626											
TTN	7273	genome.wustl.edu	37	chr2	179640736	179640736	+	Missense_Mutation	SNP	T	T	C	0	1	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	actgaagctttcctggttcaTgtacgtgaaactcaggcctt	9	13	9	10	1	2	2	2	2	0	0	3	2	3	2	2	2	3	3	2	2	3	4	rs572691153		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:179640736T>C	ENST00000591111.1	-	28	6079	c.5855A>G	c.(5854-5856)cAt>cGt	p.H1952R	TTN_ENST00000342175.6_Missense_Mutation_p.H1906R|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H1952R|TTN_ENST00000360870.5_Missense_Mutation_p.H1952R|TTN_ENST00000460472.2_Missense_Mutation_p.H1906R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H1952R|TTN_ENST00000359218.5_Missense_Mutation_p.H1906R			Q8WZ42	TITIN_HUMAN	titin	12779					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)			TCCTGGTTCATGTACGTGAAA	0.423													T|||	1	0.000199681	0	0	5008	,	,		21388	0		0	False		,,,				2504	0.001																0													172	177	175					2																	179640736		2203	4300	6503	SO:0001583	missense	0			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.5855A>G	2.37:g.179640736T>C	ENSP00000465570:p.His1952Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H1952R	ENST00000591111.1	37	c.5855		2	.	.	.	.	.	.	.	.	.	.	T	3.274	-0.148519	0.06627	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.61510	0.1;0.33;0.32;0.31;0.45	5.1	5.1	0.69264	Ribonuclease H-like (1);	.	.	.	.	T	0.43211	0.1237	N	0.08118	0	0.20489	N	0.999894	P;P;P;P;P	0.47910	0.454;0.454;0.454;0.454;0.902	B;B;B;B;P	0.45946	0.057;0.057;0.057;0.057;0.498	T	0.34378	-0.9831	9	0.87932	D	0	.	10.6794	0.45804	0.0:0.0:0.3008:0.6992	.	1906;1906;1906;1952;1952	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	1952;1906;1906;1906;1906;1952	ENSP00000343764:H1952R;ENSP00000434586:H1906R;ENSP00000340554:H1906R;ENSP00000352154:H1906R;ENSP00000354117:H1952R	ENSP00000340554:H1906R	H	-	2	0	TTN	179348981	1.000000	0.71417	0.270000	0.24601	0.716000	0.41182	4.197000	0.58413	1.932000	0.55993	0.496000	0.49642	CAT	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	48	0	T	NM_133378		179640736	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	28.26	33	13	SNP	0.563	C	C	179640736	T	C	179640736	3	2	114	1	0	0	0	0	1	0	0	0	16784	1464	51	4	105473	4	TTN	2	179640736	Missense_Mutation	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	9290421	179640736	63558637	23	30627											
CASP8	841	genome.wustl.edu	37	chr2	202151220	202151220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcctgactgaagtgaactAtgaagtaagcaacaaggatg	16	8	10	7	0	0	4	0	4	0	0	1	5	1	5	1	1	3	2	1	1	7	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:202151220A>G	ENST00000432109.2	+	10	1532	c.1343A>G	c.(1342-1344)tAt>tGt	p.Y448C	CASP8_ENST00000323492.7_Missense_Mutation_p.Y433C|CASP8_ENST00000264274.9_Missense_Mutation_p.Y364C|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000358485.4_Missense_Mutation_p.Y507C|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.Y465C	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	448					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAAGTGAACTATGAAGTAAGC	0.413										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													180	161	167					2																	202151220		2203	4300	6503	SO:0001583	missense	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1343A>G	2.37:g.202151220A>G	ENSP00000412523:p.Tyr448Cys		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.Y507C	ENST00000432109.2	37	c.1520	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	A	9.361	1.068051	0.20067	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04	5.87	-1.96	0.07525	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.913888	0.09675	N	0.770560	T	0.26557	0.0649	L	0.41573	1.285	0.09310	N	1	D;D;B;B;D	0.64830	0.994;0.977;0.048;0.039;0.977	P;P;B;B;P	0.58077	0.832;0.748;0.021;0.005;0.8	T	0.28073	-1.0055	10	0.40728	T	0.16	.	8.0348	0.30486	0.58:0.1153:0.0:0.3048	.	364;507;448;433;465	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	C	433;364;448;465;507;433;227	ENSP00000376091:Y433C;ENSP00000264274:Y364C;ENSP00000412523:Y448C;ENSP00000264275:Y465C;ENSP00000351273:Y507C;ENSP00000325722:Y433C;ENSP00000394434:Y227C	ENSP00000264274:Y364C	Y	+	2	0	CASP8	201859465	0.000000	0.05858	0.837000	0.33122	0.658000	0.38924	-0.902000	0.04088	-0.161000	0.10983	0.533000	0.62120	TAT	CASP8	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10	ENSG00000064012		0.413	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	-	0	36	0	A	NM_001228		202151220	1	tier1	-	no_errors	ENST00000358485	ensembl	human	known	74_37	missense	65.91	15	29	SNP	0.004	G	G	202151220	A	G	202151220	3	3	114	1	0	0	0	0	1	0	0	0	2684	449	16	4	1654	4	CASP8	2	202151220	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	22510484	202151220	41048153	24	30628											
ALS2CR11	151254	genome.wustl.edu	37	chr2	202358876	202358877	+	Intron	INS	-	-	T																															agccagttgtttaaatcttgINSttttttttccaatacgttgt																								rs376868287		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:202358876_202358877insT	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439140.1_Frame_Shift_Ins_p.Q730fs|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTTAAATCTTGTTTTTTTTCCA	0.297																																																	0																																										SO:0001627	intron_variant	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+1740->A	2.37:g.202358884_202358884dupT			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Ins	INS	superfamily_C2_dom	p.Q729fs	ENST00000286195.3	37	c.2188_2187	CCDS2349.1	2																																																																																			ALS2CR11	-	NULL	ENSG00000155754		0.297	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2		0	48	0	-	NM_152525		202358877	-1	tier1		no_errors	ENST00000439140	ensembl	human	novel	74_37	frame_shift_ins	5.88	32	2	INS	0.578:0.000	T	T	202358877	-	T	202358876	6	5	114	0	1	1	1	0	0	0	0	0	552	1386	48	0		0	ALS2CR11	2	202358876	Intron	INS	-	TCGA-LN-A4A4-01A-11D-A27G-09	207656	202358876	40840497	25	30629											
NBEAL1	65065	genome.wustl.edu	37	chr2	203991643	203991643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctagatacacttaggatttAttatgggtatgatgcccttg	10	15	9	7	0	0	2	0	1	0	1	0	3	0	3	2	2	2	1	2	2	6	8			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:203991643A>G	ENST00000449802.1	+	22	3488	c.3155A>G	c.(3154-3156)tAt>tGt	p.Y1052C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1052										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						CTTAGGATTTATTATGGGTAT	0.373																																																	0													272	223	238					2																	203991643		692	1591	2283	SO:0001583	missense	0			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.3155A>G	2.37:g.203991643A>G	ENSP00000399903:p.Tyr1052Cys		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y1052C	ENST00000449802.1	37	c.3155	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708799	0.68615	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.29142	1.58	5.31	5.31	0.75309	.	.	.	.	.	T	0.45316	0.1336	L	0.58101	1.795	0.80722	D	1	D	0.65815	0.995	P	0.55785	0.784	T	0.36383	-0.9750	9	0.45353	T	0.12	.	15.2009	0.73136	1.0:0.0:0.0:0.0	.	1052	Q6ZS30	NBEL1_HUMAN	C	1052	ENSP00000399903:Y1052C	ENSP00000344985:Y1052C	Y	+	2	0	NBEAL1	203699888	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.678000	0.91211	2.133000	0.65898	0.383000	0.25322	TAT	NBEAL1	-	NULL	ENSG00000144426		0.373	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	-	0	106	0	A			203991643	1	tier1	-	no_errors	ENST00000449802	ensembl	human	known	74_37	missense	26.44	64	23	SNP	1.000	G	G	203991643	A	G	203991643	3	3	114	1	0	0	0	0	1	0	0	0	10226	449	16	4	3237	4	NBEAL1	2	203991643	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	1632767	203991643	39207730	26	30630											
SPHKAP	80309	genome.wustl.edu	37	chr2	228884710	228884710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttctttgttaggttttctGgagatcgttctgttttaatc	5	22	9	5	1	3	1	0	0	3	1	5	2	3	1	0	2	0	5	0	2	2	8			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr2:228884710G>T	ENST00000392056.3	-	7	906	c.860C>A	c.(859-861)cCa>cAa	p.P287Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P287Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	287						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)		TAGGTTTTCTGGAGATCGTTC	0.438																																																	0													246	258	254					2																	228884710		2203	4300	6503	SO:0001583	missense	0				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.860C>A	2.37:g.228884710G>T	ENSP00000375909:p.Pro287Gln		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.P287Q	ENST00000392056.3	37	c.860	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.331401	0.01298	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.10960	2.82;2.82	5.6	0.206	0.15208	.	0.824400	0.10905	N	0.621202	T	0.04815	0.0130	N	0.22421	0.69	0.09310	N	1	P;P	0.35714	0.454;0.517	B;B	0.27380	0.057;0.079	T	0.36359	-0.9751	10	0.29301	T	0.29	.	1.6641	0.02798	0.5838:0.1358:0.1414:0.139	.	287;287	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Q	287	ENSP00000375909:P287Q;ENSP00000339886:P287Q	ENSP00000339886:P287Q	P	-	2	0	SPHKAP	228592954	0.008000	0.16893	0.001000	0.08648	0.003000	0.03518	0.483000	0.22292	-0.193000	0.10415	-0.781000	0.03364	CCA	SPHKAP	-	NULL	ENSG00000153820		0.438	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0	81	0	G	NM_030623		228884710	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	T	T	228884710	G	T	228884710	3	4	114	1	0	0	0	0	1	0	0	0	15095	1348	47	3	4266	3	SPHKAP	2	228884710	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	24893067	228884710	14314663	27	30631											
KIF15	56992	genome.wustl.edu	37	chr3	44882647	44882647	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	aagagatagaagatggaagaGcctctaagacttctttggaa	16	9	11	5	0	2	5	0	0	2	5	2	8	2	7	1	2	1	0	1	2	6	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:44882647G>C	ENST00000326047.4	+	29	3651	c.3502G>C	c.(3502-3504)Gcc>Ccc	p.A1168P	KIF15_ENST00000425755.1_Missense_Mutation_p.A803P	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1168					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGATGGAAGAGCCTCTAAGAC	0.358																																																	0													74	78	76					3																	44882647		2203	4300	6503	SO:0001583	missense	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3502G>C	3.37:g.44882647G>C	ENSP00000324020:p.Ala1168Pro		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A1168P	ENST00000326047.4	37	c.3502	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565252	0.86439	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.69685	-0.42;1.76	6.17	6.17	0.99709	.	0.000000	0.51477	D	0.000094	T	0.62319	0.2418	N	0.24115	0.695	0.47905	D	0.99954	P	0.52316	0.952	P	0.47744	0.556	T	0.61163	-0.7118	10	0.39692	T	0.17	.	18.6524	0.91435	0.0:0.0:1.0:0.0	.	1168	Q9NS87	KIF15_HUMAN	P	1168;1165;803	ENSP00000324020:A1168P;ENSP00000389982:A803P	ENSP00000324020:A1168P	A	+	1	0	KIF15	44857651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.342000	0.52159	2.941000	0.99782	0.655000	0.94253	GCC	KIF15	-	NULL	ENSG00000163808		0.358	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	-	0	30	0	G			44882647	1	tier1	-	no_errors	ENST00000326047	ensembl	human	known	74_37	missense	59.26	11	16	SNP	1.000	C	C	44882647	G	C	44882647	3	2	114	1	0	0	0	0	1	0	0	0	8304	971	34	5	3616	5	KIF15	3	44882647	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		44882647	153139783	28	30632											
RNF123	63891	genome.wustl.edu	37	chr3	49739576	49739576	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacaataaagatgacaatgGggtgagtgactcccaggagc	14	6	14	7	0	0	4	0	3	0	1	1	6	1	6	1	4	1	0	1	4	4	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:49739576G>C	ENST00000327697.6	+	18	1700	c.1556G>C	c.(1555-1557)gGg>gCg	p.G519A	RNF123_ENST00000432042.1_Splice_Site_p.G373A	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	519					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)		GATGACAATGGGGTGAGTGAC	0.592																																																	0													63	63	63					3																	49739576		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1557+1G>C	3.37:g.49739576G>C			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.G519A	ENST00000327697.6	37	c.1556	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822390	0.32237	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.74737	-0.57;-0.87	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000003	T	0.54806	0.1881	N	0.08118	0	0.44825	D	0.99783	B;P	0.42908	0.03;0.793	B;B	0.41202	0.014;0.35	T	0.59236	-0.7492	10	0.05959	T	0.93	-34.9528	17.4143	0.87495	0.0:0.0:1.0:0.0	.	373;519	C9J266;Q5XPI4	.;RN123_HUMAN	A	519;519;373	ENSP00000328287:G519A;ENSP00000392443:G373A	ENSP00000328287:G519A	G	+	2	0	RNF123	49714580	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.003000	0.49505	2.371000	0.80710	0.561000	0.74099	GGG	RNF123	-	NULL	ENSG00000164068		0.592	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	-	0	53	0	G	NM_022064	Missense_Mutation	49739576	1	tier1	-	no_errors	ENST00000327697	ensembl	human	known	74_37	missense	56.25	7	9	SNP	1.000	C	C	49739576	G	C	49739576	5	2	114	1	0	0	0	0	0	0	1	0	13478	1246	43	5	1622	5	RNF123	3	49739576	Splice_Site	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	4856929	49739576	148282854	29	30633											
LRTM1	57408	genome.wustl.edu	37	chr3	54959124	54959124	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaatgggaagggatttcGgccagaccctgctggctgca	9	8	15	9	1	0	1	0	0	0	1	1	3	0	3	2	5	2	4	2	5	3	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:54959124G>T	ENST00000273286.5	-	2	288	c.126C>A	c.(124-126)gcC>gcA	p.A42A	LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	42	LRRNT.					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)		AAGGGATTTCGGCCAGACCCT	0.493																																																	0													52	51	51					3																	54959124		2203	4300	6503	SO:0001819	synonymous_variant	0			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.126C>A	3.37:g.54959124G>T			Q8IUU2	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A42	ENST00000273286.5	37	c.126	CCDS2876.1	3																																																																																			LRTM1	-	NULL	ENSG00000144771		0.493	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0	38	0	G	NM_020678		54959124	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.906	T	T	54959124	G	T	54959124	2	4	114	1	0	0	0	0	0	0	0	1	9079	1103	39	2		2	LRTM1	3	54959124	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	5219548	54959124	143063306	30	30634											
PROS1	5627	genome.wustl.edu	37	chr3	93593135	93593135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatggacatgagtgagctCtaatatcattatgtttagaa	13	14	9	5	0	2	4	1	3	1	1	2	5	2	5	0	1	1	2	0	1	5	5			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:93593135C>G	ENST00000394236.3	-	15	2301	c.1985G>C	c.(1984-1986)aGa>aCa	p.R662T	PROS1_ENST00000407433.1_Missense_Mutation_p.R531T	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	662	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGAGTGAGCTCTAATATCATT	0.353																																																	0													87	82	84					3																	93593135		2203	4299	6502	SO:0001583	missense	0				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1985G>C	3.37:g.93593135C>G	ENSP00000377783:p.Arg662Thr		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.R662T	ENST00000394236.3	37	c.1985	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705432	0.30232	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78364	-1.17;-1.17	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.198836	0.50627	D	0.000103	T	0.68760	0.3036	L	0.41079	1.255	0.47862	D	0.999531	P	0.37525	0.598	B	0.37346	0.247	T	0.65981	-0.6036	10	0.10111	T	0.7	.	16.3492	0.83195	0.0:1.0:0.0:0.0	.	662	P07225	PROS_HUMAN	T	662;531	ENSP00000377783:R662T;ENSP00000385794:R531T	ENSP00000377783:R662T	R	-	2	0	PROS1	95075825	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.107000	0.41844	2.384000	0.81235	0.555000	0.69702	AGA	PROS1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000184500		0.353	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	-	0	94	0	C	NM_000313		93593135	-1	tier1	-	no_errors	ENST00000394236	ensembl	human	known	74_37	missense	33.33	46	23	SNP	1.000	G	G	93593135	C	G	93593135	3	3	114	1	0	0	0	0	1	0	0	0	12600	913	32	5	49	5	PROS1	3	93593135	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	38634011	93593135	104429295	31	30635											
ATP2C1	27032	genome.wustl.edu	37	chr3	130716559	130716559	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatacttgtttcatcaataAtcattgtttgtgggactttg	11	18	7	5	0	3	0	3	0	0	0	3	1	3	1	0	1	1	2	0	1	4	7			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:130716559A>G	ENST00000510168.1	+	25	2903	c.2353A>G	c.(2353-2355)Atc>Gtc	p.I785V	ATP2C1_ENST00000328560.8_Missense_Mutation_p.I785V|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I819V|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I769V|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I730V|ATP2C1_ENST00000428331.2_Missense_Mutation_p.I785V|ATP2C1_ENST00000504948.1_Missense_Mutation_p.I769V|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I780V|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I769V|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I785V|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I769V|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I785V|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I785V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	785					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCATCAATAATCATTGTTTG	0.358									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)												0													171	177	175					3																	130716559		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2353A>G	3.37:g.130716559A>G	ENSP00000427461:p.Ile785Val		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.I819V	ENST00000510168.1	37	c.2455	CCDS46914.1	3	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671238	0.47781	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	5.73	5.73	0.89815	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.048701	0.85682	D	0.000000	D	0.91616	0.7351	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B;B;B	0.28026	0.165;0.198;0.106;0.165;0.106;0.065;0.198	B;B;B;B;B;B;B	0.31016	0.075;0.123;0.085;0.075;0.085;0.044;0.074	D	0.89127	0.3507	10	0.22706	T	0.39	.	16.0172	0.80450	1.0:0.0:0.0:0.0	.	819;780;819;785;819;785;785	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	V	769;730;769;819;780;785;785;769;769;785;785;785;785;784	ENSP00000423774:I769V;ENSP00000425320:I730V;ENSP00000421326:I769V;ENSP00000376914:I819V;ENSP00000432956:I780V;ENSP00000427461:I785V;ENSP00000424783:I785V;ENSP00000423330:I769V;ENSP00000422872:I769V;ENSP00000329664:I785V;ENSP00000395809:I785V;ENSP00000352665:I785V;ENSP00000402677:I785V	ENSP00000329664:I785V	I	+	1	0	ATP2C1	132199249	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.301000	0.72782	2.185000	0.69588	0.454000	0.30748	ATC	ATP2C1	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000017260		0.358	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	-	0	82	0	A	NM_001001486		130716559	1	tier1	-	no_errors	ENST00000393221	ensembl	human	known	74_37	missense	48.35	47	44	SNP	1.000	G	G	130716559	A	G	130716559	3	3	114	1	0	0	0	0	1	0	0	0	1144	101	4	4	2447	4	ATP2C1	3	130716559	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	37123424	130716559	67305871	32	30636											
SI	6476	genome.wustl.edu	37	chr3	164727159	164727159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaagtcctgaagaaatctgGgaaagctacatgagctctgg	13	8	13	7	0	2	3	0	2	2	1	3	5	3	5	1	3	3	2	1	3	5	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:164727159G>T	ENST00000264382.3	-	35	4149	c.4087C>A	c.(4087-4089)Cca>Aca	p.P1363T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1363	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AAGAAATCTGGGAAAGCTACA	0.373										HNSCC(35;0.089)																																							0													72	75	74					3																	164727159		2203	4300	6503	SO:0001583	missense	0			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.4087C>A	3.37:g.164727159G>T	ENSP00000264382:p.Pro1363Thr		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.P1363T	ENST00000264382.3	37	c.4087	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419761	0.62622	.	.	ENSG00000090402	ENST00000264382	D	0.93247	-3.19	4.51	4.51	0.55191	Glycoside hydrolase, superfamily (1);	0.123684	0.56097	D	0.000035	D	0.97359	0.9136	M	0.91249	3.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98446	1.0589	10	0.87932	D	0	.	17.3927	0.87436	0.0:0.0:1.0:0.0	.	1363	P14410	SUIS_HUMAN	T	1363	ENSP00000264382:P1363T	ENSP00000264382:P1363T	P	-	1	0	SI	166209853	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	8.923000	0.92808	2.335000	0.79485	0.491000	0.48974	CCA	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.373	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	51	0	G	NM_001041		164727159	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	19.67	49	12	SNP	1.000	T	T	164727159	G	T	164727159	3	4	114	1	0	0	0	0	1	0	0	0	14342	1232	43	3	1452	3	SI	3	164727159	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	34010600	164727159	33295271	33	30637											
MYNN	55892	genome.wustl.edu	37	chr3	169496707	169496707	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaaacattgaattgaatCaacagacttgtcttcttact	13	14	6	8	0	3	3	1	2	2	1	3	4	3	4	0	1	3	0	0	1	5	5			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:169496707C>T	ENST00000349841.5	+	3	1081	c.418C>T	c.(418-420)Caa>Taa	p.Q140*	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Nonsense_Mutation_p.Q140*|MYNN_ENST00000392733.1_Nonsense_Mutation_p.Q140*|MYNN_ENST00000544106.1_Nonsense_Mutation_p.Q140*	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	140					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)			TGAATTGAATCAACAGACTTG	0.348																																																	0													48	51	50					3																	169496707		2203	4300	6503	SO:0001587	stop_gained	0			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.418C>T	3.37:g.169496707C>T	ENSP00000326240:p.Gln140*		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q140*	ENST00000349841.5	37	c.418	CCDS3207.1	3	.	.	.	.	.	.	.	.	.	.	C	40	7.973216	0.98588	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	.	.	.	5.35	5.35	0.76521	.	0.094628	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	14.6423	0.68734	0.0:0.8547:0.1453:0.0	.	.	.	.	X	140	.	ENSP00000326240:Q140X	Q	+	1	0	MYNN	170979401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.541000	0.45735	2.510000	0.84645	0.650000	0.86243	CAA	MYNN	-	NULL	ENSG00000085274		0.348	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	-	0	49	0	C	NM_018657		169496707	1	tier1	-	no_errors	ENST00000349841	ensembl	human	known	74_37	nonsense	10.14	62	7	SNP	1.000	T	T	169496707	C	T	169496707	4	4	114	1	0	0	0	0	0	1	0	0	10099	827	29	3	424	3	MYNN	3	169496707	Nonsense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	4769548	169496707	28525723	34	30638											
PIK3CA	5290	genome.wustl.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	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	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	22	0	A			178952085	1	tier1	rs121913279	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	G	G	178952085	A	G	178952085	3	3	114	1	0	0	0	0	1	0	0	0	11952	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	9455378	178952085	19070345	35	30639											
ACAP2	23527	genome.wustl.edu	37	chr3	195027311	195027311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccttaatccatgcctggcGcagcttttcggaatctgcct	7	12	9	13	2	1	0	0	0	1	0	3	1	2	1	4	2	4	2	4	2	2	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr3:195027311G>A	ENST00000326793.6	-	13	1275	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	349	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CATGCCTGGCGCAGCTTTTCG	0.403																																																	0													149	150	149					3																	195027311		2203	4300	6503	SO:0001583	missense	0				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.1045C>T	3.37:g.195027311G>A	ENSP00000324287:p.Arg349Cys		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R349C	ENST00000326793.6	37	c.1045	CCDS33924.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.235648|4.235648	0.79800|0.79800	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000439758|ENST00000326793	.|T	.|0.78003	.|-1.14	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.105878	.|0.64402	.|D	.|0.000003	D|D	0.86785|0.86785	0.6016|0.6016	M|M	0.62088|0.62088	1.915|1.915	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.85733|0.85733	0.1332|0.1332	5|10	.|0.42905	.|T	.|0.14	.|.	18.484|18.484	0.90821|0.90821	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|349	.|Q15057	.|ACAP2_HUMAN	V|C	223|349	.|ENSP00000324287:R349C	.|ENSP00000324287:R349C	A|R	-|-	2|1	0|0	ACAP2|ACAP2	196508600|196508600	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.501000|6.501000	0.73691|0.73691	2.593000|2.593000	0.87608|0.87608	0.511000|0.511000	0.50034|0.50034	GCG|CGC	ACAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000114331		0.403	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2	-	0	40	0	G	NM_012287		195027311	-1	tier1	-	no_errors	ENST00000326793	ensembl	human	known	74_37	missense	18.97	47	11	SNP	1.000	A	A	195027311	G	A	195027311	3	1	114	1	0	0	0	0	1	0	0	0	119	1087	38	1	1335	1	ACAP2	3	195027311	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	16075226	195027311	2995119	36	30640											
N4BP2	55728	genome.wustl.edu	37	chr4	40103753	40103755	+	In_Frame_Del	DEL	ATC	ATC	-																															actgataccaagatagaagaAtcatcttcacaaagtttcgt																										TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	ATC	ATC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:40103753_40103755delATC	ENST00000261435.6	+	4	704_706	c.288_290delATC	c.(286-291)gaatca>gaa	p.S99del		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	99					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						AGATAGAAGAATCATCTTCACAA	0.335																																																	0																																										SO:0001651	inframe_deletion	0			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.288_290delATC	4.37:g.40103756_40103758delATC	ENSP00000261435:p.Ser99del		A0AVR3|Q9NVK2|Q9P2D4	In_Frame_Del	DEL	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.S99in_frame_del	ENST00000261435.6	37	c.288_290	CCDS3457.1	4																																																																																			N4BP2	-	NULL	ENSG00000078177		0.335	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2		0	31	0	ATC	NM_018177		40103755	1	tier1		no_errors	ENST00000261435	ensembl	human	known	74_37	in_frame_del	57.14	9	12	DEL	0.001:0.036:0.718	-	-	40103755	ATC	-	40103753	7	5	114	1	0	1	0	1	0	0	0	0	10148	98	4	0	294	0	N4BP2	4	40103753	In_Frame_Del	DEL	ATC	TCGA-LN-A4A4-01A-11D-A27G-09		40103753	151050523	37	30641											
CENPC1	1060	genome.wustl.edu	37	chr4	68385049	68385049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataacattttgtgatacaGatgtttttgcatccaaaaga	15	14	7	5	0	0	3	0	1	0	2	1	4	1	3	1	0	3	2	1	0	5	6			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:68385049G>T	ENST00000273853.6	-	6	753	c.503C>A	c.(502-504)tCt>tAt	p.S168Y		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	168					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)										TTGTGATACAGATGTTTTTGC	0.343																																																	0													114	103	107					4																	68385049		1824	4098	5922	SO:0001583	missense	0			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.503C>A	4.37:g.68385049G>T	ENSP00000273853:p.Ser168Tyr		Q8IW27|Q9P0M5	Missense_Mutation	SNP	pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin	p.S168Y	ENST00000273853.6	37	c.503	CCDS47063.1	4	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136016	0.37728	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.95	4.1	0.47936	.	0.642292	0.14356	N	0.324776	T	0.52629	0.1746	L	0.54323	1.7	0.09310	N	1	D;D	0.61080	0.989;0.989	P;P	0.57283	0.817;0.817	T	0.42015	-0.9476	9	0.66056	D	0.02	-0.758	10.7336	0.46111	0.0:0.0:0.8113:0.1887	.	168;168	Q8IW27;Q03188	.;CENPC_HUMAN	Y	168	.	ENSP00000273853:S168Y	S	-	2	0	CENPC1	68067644	0.002000	0.14202	0.019000	0.16419	0.544000	0.35116	0.989000	0.29629	1.260000	0.44134	0.591000	0.81541	TCT	CENPC	-	NULL	ENSG00000145241		0.343	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC	HGNC	protein_coding	OTTHUMT00000362001.2	-	0	47	0	G			68385049	-1	tier1	-	no_errors	ENST00000273853	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.013	T	T	68385049	G	T	68385049	3	4	114	1	0	0	0	0	1	0	0	0	3236	942	33	3	2384	3	CENPC1	4	68385049	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	28281296	68385049	122769227	38	30642											
GPRIN3	285513	genome.wustl.edu	37	chr4	90168959	90168959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	acacagaagacggggcaggaCggacgcagcagttggggcgt	11	3	18	9	4	0	2	0	0	0	2	0	4	0	4	0	6	1	4	0	6	1	1	rs145667508	byFrequency	TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:90168959C>T	ENST00000609438.1	-	2	2821	c.2303G>A	c.(2302-2304)cGt>cAt	p.R768H	GPRIN3_ENST00000333209.4_Missense_Mutation_p.R768H	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	768										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CGGGGCAGGACGGACGCAGCA	0.463																																																	0								C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	99	106	104		2303	4.5	0.1	4	dbSNP_134	104	0,8600		0,0,4300	yes	missense	GPRIN3	NM_198281.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	768/777	90168959	2,13004	2203	4300	6503	SO:0001583	missense	0			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2303G>A	4.37:g.90168959C>T	ENSP00000476603:p.Arg768His		Q8IVE4	Missense_Mutation	SNP	NULL	p.R768H	ENST00000609438.1	37	c.2303	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829501	0.50845	4.54E-4	0.0	ENSG00000185477	ENST00000333209	T	0.28069	1.63	5.45	4.53	0.55603	.	0.000000	0.34484	N	0.003923	T	0.37598	0.1009	L	0.34521	1.04	0.35040	D	0.759661	D	0.76494	0.999	P	0.55508	0.777	T	0.49082	-0.8976	10	0.87932	D	0	-14.787	14.8056	0.69952	0.0:0.9212:0.0:0.0788	.	768	Q6ZVF9	GRIN3_HUMAN	H	768	ENSP00000328672:R768H	ENSP00000328672:R768H	R	-	2	0	GPRIN3	90387982	1.000000	0.71417	0.077000	0.20336	0.076000	0.17211	5.549000	0.67261	2.836000	0.97738	0.655000	0.94253	CGT	GPRIN3	-	NULL	ENSG00000185477		0.463	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	-	0	40	0	C	NM_198281		90168959	-1	tier1	rs145667508	no_errors	ENST00000333209	ensembl	human	known	74_37	missense	69.57	7	16	SNP	0.552	T	T	90168959	C	T	90168959	3	4	114	1	0	0	0	0	1	0	0	0	6758	536	19	1	31	1	GPRIN3	4	90168959	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	21783910	90168959	100985317	39	30643											
CISD2	493856	genome.wustl.edu	37	chr4	103806549	103806549	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattgaagatttgtgtcttActaaagcagcttattgtagg	12	15	9	5	0	1	2	0	1	1	1	1	2	1	2	0	1	3	3	0	1	6	7			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:103806549A>T	ENST00000273986.4	+	2	387	c.280A>T	c.(280-282)Act>Tct	p.T94S	CISD2_ENST00000503643.1_Missense_Mutation_p.T104S|SLC9B1_ENST00000394789.3_Intron	NM_001008388.4	NP_001008389.1	Q8N5K1	CISD2_HUMAN	CDGSH iron sulfur domain 2	94					mitochondrion degradation (GO:0000422)|multicellular organismal aging (GO:0010259)|regulation of autophagy (GO:0010506)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)	4				OV - Ovarian serous cystadenocarcinoma(123;1.97e-08)		TTTGTGTCTTACTAAAGCAGC	0.348																																																	0													58	56	57					4																	103806549		2203	4300	6503	SO:0001583	missense	0			BX537971	CCDS34040.1	4q24	2009-03-25	2007-08-10	2007-08-10	ENSG00000145354	ENSG00000145354		"CDGSH iron sulfur domain containing"	24212	protein-coding gene	gene with protein product	"mitoNEET related 1", "endoplasmic reticulum intermembrane small protein"	611507	"zinc finger, CDGSH-type domain 2", "Wolfram syndrome 2"	ZCD2, WFS2		17376863, 17584744, 17846994	Standard	NM_001008388		Approved	Miner1, ERIS	uc003hwt.4	Q8N5K1	OTTHUMG00000161014	ENST00000273986.4:c.280A>T	4.37:g.103806549A>T	ENSP00000273986:p.Thr94Ser		Q7Z3D5	Missense_Mutation	SNP	pfam_FeS-contain_mitoNEET_N,pfam_FeS-contain_CDGSH-typ,smart_FeS-contain_CDGSH-typ_subfam	p.T94S	ENST00000273986.4	37	c.280	CCDS34040.1	4	.	.	.	.	.	.	.	.	.	.	A	10.15	1.271227	0.23221	.	.	ENSG00000145354	ENST00000273986;ENST00000503643	.	.	.	6.17	3.76	0.43208	Iron sulphur-containing domain, CDGSH-type, subfamily (1);Iron sulphur-containing domain, CDGSH-type (1);	0.243602	0.49305	D	0.000155	T	0.20820	0.0501	N	0.00926	-1.1	0.49798	D	0.999824	B	0.29481	0.245	B	0.35182	0.197	T	0.07520	-1.0768	9	0.21540	T	0.41	-9.7638	10.8706	0.46881	0.8131:0.0:0.1869:0.0	.	94	Q8N5K1	CISD2_HUMAN	S	94;104	.	ENSP00000273986:T94S	T	+	1	0	CISD2	104025984	0.376000	0.25098	0.138000	0.22173	0.888000	0.51559	1.042000	0.30303	0.201000	0.20466	-1.139000	0.01908	ACT	CISD2	-	pfam_FeS-contain_CDGSH-typ,smart_FeS-contain_CDGSH-typ_subfam	ENSG00000145354		0.348	CISD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD2	HGNC	protein_coding	OTTHUMT00000363417.2	-	0	50	0	A	NM_001008388		103806549	1	tier1	-	no_errors	ENST00000273986	ensembl	human	known	74_37	missense	32.69	35	17	SNP	0.121	T	T	103806549	A	T	103806549	3	4	114	1	0	0	0	0	1	0	0	0	3443	391	14	5	286	5	CISD2	4	103806549	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	13637590	103806549	87347727	40	30644											
NHEDC1	150159	genome.wustl.edu	37	chr4	103867843	103867843	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcttattagaataatGgtaagggcaatgcttcttaa	13	13	8	7	0	2	1	0	0	2	1	2	1	2	1	1	2	2	4	1	2	7	6			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:103867843G>T	ENST00000296422.7	-	5	627	c.486C>A	c.(484-486)acC>acA	p.T162T	SLC9B1_ENST00000394789.3_Silent_p.T162T	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	162					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)										TTAGAATAATGGTAAGGGCAA	0.373																																																	0													72	72	72					4																	103867843		2203	4300	6503	SO:0001819	synonymous_variant	0			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.486C>A	4.37:g.103867843G>T			A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	pfam_Cation/H_exchanger	p.T162	ENST00000296422.7	37	c.486	CCDS34041.1	4																																																																																			SLC9B1	-	pfam_Cation/H_exchanger	ENSG00000164037		0.373	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B1	HGNC	protein_coding	OTTHUMT00000363841.1	-	0	92	0	G	NM_139173		103867843	-1	tier1	-	no_errors	ENST00000296422	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.954	T	T	103867843	G	T	103867843	2	4	114	1	0	0	0	0	0	0	0	1	10439	1335	47	3		3	NHEDC1	4	103867843	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	61294	103867843	87286433	41	30645											
CENPE	1062	genome.wustl.edu	37	chr4	104116291	104116291	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgacatcttctcgaataaTtaaaggtttcattttttgag	12	18	6	5	1	3	2	1	2	2	0	4	3	3	2	0	1	0	1	0	1	4	8			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:104116291T>C	ENST00000265148.3	-	5	546	c.457A>G	c.(457-459)Att>Gtt	p.I153V	CENPE_ENST00000380026.3_Missense_Mutation_p.I153V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	153	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)		TCTCGAATAATTAAAGGTTTC	0.318																																																	0													97	99	99					4																	104116291		2203	4292	6495	SO:0001583	missense	0			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.457A>G	4.37:g.104116291T>C	ENSP00000265148:p.Ile153Val		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I153V	ENST00000265148.3	37	c.457	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266832	0.40095	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.74737	-0.87;-0.87;-0.87	5.94	0.8	0.18672	Kinesin, motor domain (4);	.	.	.	.	T	0.42177	0.1191	N	0.01529	-0.815	0.28318	N	0.922366	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.31530	-0.9940	9	0.33141	T	0.24	.	4.4754	0.11733	0.1559:0.4218:0.0:0.4223	.	153;153	Q02224-3;Q02224	.;CENPE_HUMAN	V	153	ENSP00000265148:I153V;ENSP00000369365:I153V;ENSP00000423981:I153V	ENSP00000265148:I153V	I	-	1	0	CENPE	104335740	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	1.386000	0.34419	0.144000	0.18951	-0.263000	0.10527	ATT	CENPE	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000138778		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		-	0	25	0	T			104116291	-1	tier1	-	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	69.05	13	29	SNP	1.000	C	C	104116291	T	C	104116291	3	2	114	1	0	0	0	0	1	0	0	0	3237	1493	52	4	7828	4	CENPE	4	104116291	Missense_Mutation	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	248448	104116291	87037985	42	30646											
DKK2	27123	genome.wustl.edu	37	chr4	107845807	107845807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtgccgagtaccatccaGagccgggatgtgaggggtta	8	9	15	9	2	1	2	0	1	1	1	2	4	2	3	4	3	3	2	4	3	2	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:107845807G>C	ENST00000285311.3	-	3	1129	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V	DKK2_ENST00000513208.1_Missense_Mutation_p.L42V|DKK2_ENST00000510463.1_Missense_Mutation_p.L96V	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	142					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTACCATCCAGAGCCGGGATG	0.433																																																	0													227	210	216					4																	107845807		2203	4300	6503	SO:0001583	missense	0			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.424C>G	4.37:g.107845807G>C	ENSP00000285311:p.Leu142Val		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd	p.L142V	ENST00000285311.3	37	c.424	CCDS3675.1	4	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316093	0.40996	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.44482	0.92;0.95;0.93	5.75	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.56093	0.1962	L	0.50333	1.59	0.41557	D	0.988603	D;P	0.76494	0.999;0.649	D;B	0.63793	0.918;0.189	T	0.56986	-0.7888	10	0.59425	D	0.04	-1.4686	15.06	0.71944	0.0691:0.0:0.9309:0.0	.	142;142	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	V	142;42;96	ENSP00000285311:L142V;ENSP00000421255:L42V;ENSP00000423797:L96V	ENSP00000285311:L142V	L	-	1	2	DKK2	108065256	0.839000	0.29477	1.000000	0.80357	0.978000	0.69477	0.876000	0.28092	2.717000	0.92951	0.585000	0.79938	CTG	DKK2	-	NULL	ENSG00000155011		0.433	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DKK2	HGNC	protein_coding	OTTHUMT00000253959.4	-	0	49	0	G			107845807	-1	tier1	-	no_errors	ENST00000285311	ensembl	human	novel	74_37	missense	43.55	35	27	SNP	1.000	C	C	107845807	G	C	107845807	3	2	114	1	0	0	0	0	1	0	0	0	4559	933	33	5	363	5	DKK2	4	107845807	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	3729516	107845807	83308469	43	30647											
TLL1	7092	genome.wustl.edu	37	chr4	166910623	166910623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttacgcagaacccctttgGaaaccttggacataccacag	12	8	7	14	1	0	1	0	0	0	1	0	3	0	3	5	2	4	1	5	2	4	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:166910623G>T	ENST00000061240.2	+	2	907	c.260G>T	c.(259-261)gGa>gTa	p.G87V	TLL1_ENST00000507499.1_Missense_Mutation_p.G87V|TLL1_ENST00000513213.1_Missense_Mutation_p.G87V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	87					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)	p.G87E(1)		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)		AACCCCTTTGGAAACCTTGGA	0.333																																																	1	Substitution - Missense(1)	kidney(1)											111	116	114					4																	166910623		2203	4300	6503	SO:0001583	missense	0			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.260G>T	4.37:g.166910623G>T	ENSP00000061240:p.Gly87Val		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.G87V	ENST00000061240.2	37	c.260	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372470	0.42003	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.57752	0.52;0.44;0.38	5.6	4.64	0.57946	.	0.390743	0.26010	U	0.026885	T	0.39759	0.1090	L	0.46157	1.445	0.58432	D	0.999994	B;B	0.24258	0.1;0.1	B;B	0.24541	0.054;0.024	T	0.39643	-0.9604	10	0.33940	T	0.23	.	3.677	0.08295	0.3471:0.0:0.6529:0.0	.	87;87	E9PD25;O43897	.;TLL1_HUMAN	V	87	ENSP00000061240:G87V;ENSP00000426082:G87V;ENSP00000422937:G87V	ENSP00000061240:G87V	G	+	2	0	TLL1	167130073	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.406000	0.59748	2.634000	0.89283	0.655000	0.94253	GGA	TLL1	-	pirsf_BMP_1/tolloid-like	ENSG00000038295		0.333	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1		0	58	0	G			166910623	1			no_errors	ENST00000061240	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	T	T	166910623	G	T	166910623	3	4	114	1	0	0	0	0	1	0	0	0	15992	1174	41	3	266	3	TLL1	4	166910623	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	59064816	166910623	24243653	44	30648											
VEGFC	7424	genome.wustl.edu	37	chr4	177650746	177650746	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatagtctcttctgtccttGagttgaggttggcctgttct	4	19	10	8	0	3	2	0	2	3	0	5	2	4	2	2	2	0	3	2	2	2	7			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr4:177650746G>C	ENST00000280193.2	-	2	717	c.302C>G	c.(301-303)tCa>tGa	p.S101*	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	101					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.S101*(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCTGTCCTTGAGTTGAGGTT	0.373																																																	1	Substitution - Nonsense(1)	lung(1)											153	141	145					4																	177650746		1903	4120	6023	SO:0001587	stop_gained	0			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.302C>G	4.37:g.177650746G>C	ENSP00000280193:p.Ser101*		B2R9Q8	Nonsense_Mutation	SNP	pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.S101*	ENST00000280193.2	37	c.302	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.144219	0.98092	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.06	2.37	0.29283	.	0.540016	0.20350	N	0.094066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	0.6389	10.6419	0.45598	0.2137:0.0:0.7863:0.0	.	.	.	.	X	101	.	ENSP00000280193:S101X	S	-	2	0	VEGFC	177887740	0.365000	0.25006	0.024000	0.17045	0.108000	0.19459	2.205000	0.42770	0.254000	0.21573	0.484000	0.47621	TCA	VEGFC	-	NULL	ENSG00000150630		0.373	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	-	0	86	0	G	NM_005429		177650746	-1	tier1	-	no_errors	ENST00000280193	ensembl	human	known	74_37	nonsense	42.68	47	35	SNP	0.089	C	C	177650746	G	C	177650746	4	2	114	1	0	0	0	0	0	1	0	0	17201	1294	45	5	984	5	VEGFC	4	177650746	Nonsense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	10740123	177650746	13503530	45	30649											
PRDM9	56979	genome.wustl.edu	37	chr5	23522919	23522919	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcatctgatctgccgctGggtctgcactttggccctta	5	12	12	12	1	3	1	0	1	3	0	3	2	3	1	2	3	2	3	2	3	1	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:23522919G>T	ENST00000296682.3	+	8	989	c.807G>T	c.(805-807)ctG>ctT	p.L269L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	269	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATCTGCCGCTGGGTCTGCACT	0.567										HNSCC(3;0.000094)																																							0													73	72	72					5																	23522919		2203	4300	6503	SO:0001819	synonymous_variant	0			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.807G>T	5.37:g.23522919G>T			B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L269	ENST00000296682.3	37	c.807	CCDS43307.1	5																																																																																			PRDM9	-	pfscan_SET_dom	ENSG00000164256		0.567	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	68	0	G	NM_020227		23522919	1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	silent	32.35	46	22	SNP	0.364	T	T	23522919	G	T	23522919	2	4	114	1	0	0	0	0	0	0	0	1	12505	1335	47	3		3	PRDM9	5	23522919	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		23522919	157392341	46	30650											
C5orf42	65250	genome.wustl.edu	37	chr5	37139474	37139475	+	Splice_Site	INS	-	-	A																															catcactgctattcatacctINSaaaaaaaaaatcattattaa																								rs34646696	byFrequency	TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:37139474_37139475insA	ENST00000508244.1	-	43	8564		c.e43-2		C5orf42_ENST00000274258.7_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site|C5orf42_ENST00000512288.1_Splice_Site			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42							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)			TATTCATACCtaaaaaaaaaat	0.218																																																	0																																										SO:0001630	splice_region_variant	0				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.8471-2->T	5.37:g.37139484_37139484dupA			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Splice_Site	INS	-	e43-2	ENST00000508244.1	37	c.8471-3_8471-2	CCDS34146.2	5																																																																																			C5orf42	-	-	ENSG00000197603		0.218	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1		0	45	0	-	NM_023073	Intron	37139475	-1	tier1		no_errors	ENST00000425232	ensembl	human	known	74_37	splice_site_ins	11.11	32	4	INS	0.993:0.043	A	A	37139475	-	A	37139474	8	5	114	1	0	1	1	0	0	0	1	0	2308	1536	53	0	1160	0	C5orf42	5	37139474	Splice_Site	INS	-	TCGA-LN-A4A4-01A-11D-A27G-09	13616555	37139474	143775786	47	30651											
C5orf39	389289	genome.wustl.edu	37	chr5	43039891	43039891	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caactgaactcagtgggcttCgctgtacttggttccaaggt	8	12	11	10	1	1	1	1	1	0	0	3	1	2	1	1	3	3	4	1	3	4	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:43039891C>T	ENST00000314890.3	-	2	1677	c.258G>A	c.(256-258)gcG>gcA	p.A86A	AC025171.1_ENST00000505541.1_RNA|AC025171.1_ENST00000451894.2_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	86																	CAGTGGGCTTCGCTGTACTTG	0.602											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													94	97	96					5																	43039891		2203	4300	6503	SO:0001819	synonymous_variant	0			BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"chromosome 5 open reading frame 39"	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.258G>A	5.37:g.43039891C>T		913	Q8NHX5	Silent	SNP	NULL	p.A86	ENST00000314890.3	37	c.258	CCDS34153.1	5																																																																																			ANXA2R	-	NULL	ENSG00000177721		0.602	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA2R	HGNC	protein_coding	OTTHUMT00000368030.1	-	0	61	0	C	NM_001014279		43039891	-1	tier1	-	no_errors	ENST00000314890	ensembl	human	known	74_37	silent	34.92	41	22	SNP	0.000	T	T	43039891	C	T	43039891	2	4	114	1	0	0	0	0	0	0	0	1	2304	871	31	1		1	C5orf39	5	43039891	Silent	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	5900417	43039891	137875369	48	30652											
MAP3K1	4214	genome.wustl.edu	37	chr5	56174810	56174810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatttttttccttagaaaAcattgagagccatgctggta	12	14	8	7	0	0	3	0	1	0	3	1	4	1	3	2	1	3	2	2	1	4	6			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:56174810A>G	ENST00000399503.3	+	11	1969	c.1969A>G	c.(1969-1971)Aca>Gca	p.T657A		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	657					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TCCTTAGAAAACATTGAGAGC	0.378																																																	0													81	74	76					5																	56174810		1837	4087	5924	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1969A>G	5.37:g.56174810A>G	ENSP00000382423:p.Thr657Ala			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.T657A	ENST00000399503.3	37	c.1969	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705281	0.48412	.	.	ENSG00000095015	ENST00000399503	T	0.61980	0.06	5.46	4.28	0.50868	.	0.054916	0.64402	D	0.000001	T	0.58481	0.2125	L	0.56769	1.78	0.58432	D	0.999997	P	0.34546	0.456	B	0.35931	0.214	T	0.57957	-0.7721	10	0.45353	T	0.12	.	12.0332	0.53410	0.8705:0.0:0.0:0.1295	.	657	Q13233	M3K1_HUMAN	A	657	ENSP00000382423:T657A	ENSP00000382423:T657A	T	+	1	0	MAP3K1	56210567	1.000000	0.71417	0.990000	0.47175	0.172000	0.22775	7.672000	0.83956	0.992000	0.38840	-0.336000	0.08194	ACA	MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.378	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	-	0	46	0	A	XM_042066		56174810	1	tier1	-	no_errors	ENST00000399503	ensembl	human	novel	74_37	missense	21.43	33	9	SNP	1.000	G	G	56174810	A	G	56174810	3	3	114	1	0	0	0	0	1	0	0	0	9281	43	2	4	2011	4	MAP3K1	5	56174810	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	13134919	56174810	124740450	49	30653											
PRR16	51334	genome.wustl.edu	37	chr5	120021833	120021833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	acacccgtctgctatcctcaCggtcctgagaaagccaaacc	11	7	7	16	2	2	1	1	1	1	1	4	2	4	1	5	1	3	1	5	1	3	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:120021833C>T	ENST00000407149.2	+	2	553	c.344C>T	c.(343-345)aCg>aTg	p.T115M	PRR16_ENST00000505123.1_Missense_Mutation_p.T45M|PRR16_ENST00000446965.1_Missense_Mutation_p.T45M|PRR16_ENST00000379551.2_Missense_Mutation_p.T92M			Q569H4	LARGN_HUMAN	proline rich 16	115	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.T92M(1)		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)		GCTATCCTCACGGTCCTGAGA	0.522																																																	1	Substitution - Missense(1)	lung(1)											143	125	131					5																	120021833		2203	4300	6503	SO:0001583	missense	0			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.344C>T	5.37:g.120021833C>T	ENSP00000385118:p.Thr115Met		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	NULL	p.T115M	ENST00000407149.2	37	c.344		5	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070552	0.76301	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63479	-0.6628	9	.	.	.	-2.7303	18.3984	0.90507	0.0:1.0:0.0:0.0	.	115;92	Q569H4;Q569H4-3	PRR16_HUMAN;.	M	115;92;45;45;45	ENSP00000385118:T115M;ENSP00000368869:T92M;ENSP00000421256:T45M;ENSP00000423446:T45M;ENSP00000405491:T45M	.	T	+	2	0	PRR16	120049732	1.000000	0.71417	0.958000	0.39756	0.880000	0.50808	7.393000	0.79851	2.640000	0.89533	0.549000	0.68633	ACG	PRR16	-	NULL	ENSG00000184838		0.522	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1	-	0	33	0	C	NM_016644		120021833	1	tier1	-	no_errors	ENST00000407149	ensembl	human	known	74_37	missense	46.15	14	12	SNP	1.000	T	T	120021833	C	T	120021833	3	4	114	1	0	0	0	0	1	0	0	0	12631	536	19	1	281	1	PRR16	5	120021833	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	63847023	120021833	60893427	50	30654											
PCDHGA6	56109	genome.wustl.edu	37	chr5	140754632	140754632	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgggatgggccaggtcttCgagacagagcgaaagtctta	10	7	14	10	3	2	2	0	0	2	2	3	5	2	3	2	3	1	0	2	3	2	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:140754632C>T	ENST00000517434.1	+	1	982	c.982C>T	c.(982-984)Cga>Tga	p.R328*	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	328	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGTCTTCGAGACAGAGC	0.428																																																	0													150	156	154					5																	140754632		1875	4098	5973	SO:0001587	stop_gained	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.982C>T	5.37:g.140754632C>T	ENSP00000429601:p.Arg328*		A6H8K7|B2RN55|Q9Y5D1	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R328*	ENST00000517434.1	37	c.982	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	19.12	3.764994	0.69878	.	.	ENSG00000253731	ENST00000517434	.	.	.	5.25	1.19	0.21007	.	3.053800	0.03411	U	0.204832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	3.5292	0.07770	0.5634:0.2093:0.1253:0.102	.	.	.	.	X	328	.	ENSP00000429601:R328X	R	+	1	2	PCDHGA6	140734816	0.000000	0.05858	0.582000	0.28627	0.675000	0.39556	-0.383000	0.07398	0.355000	0.24131	0.655000	0.94253	CGA	PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253731		0.428	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	-	0	44	0	C	NM_018919		140754632	1	tier1	-	no_errors	ENST00000517434	ensembl	human	known	74_37	nonsense	52.00	12	13	SNP	0.000	T	T	140754632	C	T	140754632	4	4	114	1	0	0	0	0	0	1	0	0	11597	876	31	1	984	1	PCDHGA6	5	140754632	Nonsense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	20732799	140754632	40160628	51	30655											
SLC36A2	153201	genome.wustl.edu	37	chr5	150704916	150704916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcaggtagcccagagccGccatgccaatgtatagggaa	12	5	12	12	2	0	1	0	0	0	1	0	2	0	2	5	2	3	3	5	2	5	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr5:150704916G>A	ENST00000335244.4	-	8	1070	c.941C>T	c.(940-942)gCg>gTg	p.A314V	SLC36A2_ENST00000450886.1_Missense_Mutation_p.A38V|SLC36A2_ENST00000521967.1_Missense_Mutation_p.A314V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	314					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)	GCCCAGAGCCGCCATGCCAAT	0.532																																																	0													89	75	80					5																	150704916		2203	4300	6503	SO:0001583	missense	0			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.941C>T	5.37:g.150704916G>A	ENSP00000334223:p.Ala314Val		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A314V	ENST00000335244.4	37	c.941	CCDS4315.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.50|12.50	1.955218|1.955218	0.34471|0.34471	.|.	.|.	ENSG00000186335|ENSG00000186335	ENST00000335244;ENST00000450886;ENST00000521967|ENST00000523044	T;T;T|.	0.03524|.	3.9;3.9;3.9|.	4.82|4.82	1.93|1.93	0.25924|0.25924	.|.	0.266898|.	0.41712|.	D|.	0.000838|.	T|T	0.55593|0.55593	0.1930|0.1930	M|M	0.62723|0.62723	1.935|1.935	0.23421|0.23421	N|N	0.997714|0.997714	P;P|.	0.50528|.	0.936;0.802|.	P;B|.	0.54499|.	0.754;0.382|.	T|T	0.51068|0.51068	-0.8752|-0.8752	10|5	0.87932|.	D|.	0|.	-5.8456|-5.8456	15.7582|15.7582	0.78054|0.78054	0.0:0.6081:0.3919:0.0|0.0:0.6081:0.3919:0.0	.|.	314;314|.	E5RJJ5;Q495M3|.	.;S36A2_HUMAN|.	V|W	314;38;314|67	ENSP00000334223:A314V;ENSP00000399479:A38V;ENSP00000430535:A314V|.	ENSP00000334223:A314V|.	A|R	-|-	2|1	0|2	SLC36A2|SLC36A2	150685109|150685109	0.530000|0.530000	0.26330|0.26330	0.003000|0.003000	0.11579|0.11579	0.035000|0.035000	0.12851|0.12851	2.346000|2.346000	0.44027|0.44027	0.283000|0.283000	0.22279|0.22279	-0.378000|-0.378000	0.06908|0.06908	GCG|CGG	SLC36A2	-	pfam_AA_transpt_TM	ENSG00000186335		0.532	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	-	0	57	0	G			150704916	-1	tier1	-	no_errors	ENST00000335244	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.945	A	A	150704916	G	A	150704916	3	1	114	1	0	0	0	0	1	0	0	0	14639	1087	38	1	522	1	SLC36A2	5	150704916	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	9950284	150704916	30210344	52	30656											
C6orf201	404220	genome.wustl.edu	37	chr6	4099372	4099372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgtaactgacgggtggaAgaaatgtcacttgttgaaga	14	10	12	5	1	1	4	1	2	0	2	1	5	1	5	0	2	1	2	0	2	5	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr6:4099372A>G	ENST00000380175.4	+	3	989	c.224A>G	c.(223-225)aAg>aGg	p.K75R	C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Missense_Mutation_p.K78R|C6orf201_ENST00000430835.2_Missense_Mutation_p.K75R	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	75										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GACGGGTGGAAGAAATGTCAC	0.418																																																	0													98	91	93					6																	4099372		1863	4104	5967	SO:0001583	missense	0			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.224A>G	6.37:g.4099372A>G	ENSP00000420610:p.Lys75Arg		A6NLI6|Q6NXN5	Missense_Mutation	SNP	NULL	p.K78R	ENST00000380175.4	37	c.233	CCDS43419.1	6	.	.	.	.	.	.	.	.	.	.	A	17.39	3.376640	0.61735	.	.	ENSG00000185689	ENST00000333388;ENST00000541127;ENST00000380175;ENST00000427996;ENST00000451679;ENST00000436110;ENST00000430835	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	4.76	0.955	0.19602	.	0.160855	0.29466	N	0.012076	T	0.06462	0.0166	L	0.32530	0.975	0.19945	N	0.999946	B;P	0.35348	0.194;0.496	B;B	0.34489	0.107;0.184	T	0.20638	-1.0269	10	0.44086	T	0.13	.	1.1833	0.01849	0.5126:0.1967:0.1017:0.1889	.	75;75	B4DXB2;Q7Z4U5	.;CF201_HUMAN	R	78;75;75;78;75;75;75	ENSP00000330777:K78R;ENSP00000420610:K75R;ENSP00000419568:K78R;ENSP00000420763:K75R;ENSP00000417981:K75R;ENSP00000396912:K75R	ENSP00000330777:K78R	K	+	2	0	C6orf201	4044371	0.959000	0.32827	0.356000	0.25785	0.070000	0.16714	1.487000	0.35540	0.325000	0.23359	0.528000	0.53228	AAG	C6orf201	-	NULL	ENSG00000185689		0.418	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	C6orf201	HGNC	protein_coding	OTTHUMT00000314019.2	-	0	55	0	A	NM_001085401		4099372	1	tier1	-	no_errors	ENST00000333388	ensembl	human	known	74_37	missense	72.22	10	26	SNP	0.255	G	G	4099372	A	G	4099372	3	3	114	1	0	0	0	0	1	0	0	0	2358	72	3	4	230	4	C6orf201	6	4099372	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09		4099372	167015695	53	30657											
MOG	4340	genome.wustl.edu	37	chr6	29627252	29627252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggttcatctctacagaaAtggcaaggaccaagatggag	13	8	13	7	0	2	2	1	0	1	2	3	4	2	4	1	5	1	2	1	5	4	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr6:29627252A>G	ENST00000376917.3	+	2	474	c.245A>G	c.(244-246)aAt>aGt	p.N82S	MOG_ENST00000490427.1_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.N82S|MOG_ENST00000376888.2_Intron|MOG_ENST00000533330.2_Missense_Mutation_p.N82S|MOG_ENST00000431798.2_Missense_Mutation_p.N82S|MOG_ENST00000483013.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376902.3_Missense_Mutation_p.N82S|MOG_ENST00000376894.4_Missense_Mutation_p.N82S|MOG_ENST00000396704.3_Missense_Mutation_p.N82S|MOG_ENST00000416766.2_Missense_Mutation_p.N82S|MOG_ENST00000396701.2_Missense_Mutation_p.N82S|MOG_ENST00000494692.1_Missense_Mutation_p.N82S|MOG_ENST00000376891.4_Missense_Mutation_p.N82S	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	82	Ig-like V-type.				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						CTCTACAGAAATGGCAAGGAC	0.557																																																	0													116	116	116					6																	29627252		1511	2709	4220	SO:0001583	missense	0				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.245A>G	6.37:g.29627252A>G	ENSP00000366115:p.Asn82Ser		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	Missense_Mutation	SNP	pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.N82S	ENST00000376917.3	37	c.245	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120151	0.37436	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.72	4.57	0.56435	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.37812	0.1017	L	0.58669	1.825	0.29866	N	0.827203	B;P;B;B;B;B;P;B;B;P;B	0.42123	0.239;0.771;0.271;0.271;0.2;0.271;0.515;0.364;0.087;0.616;0.061	B;B;B;B;B;B;B;B;B;B;B	0.34385	0.167;0.181;0.078;0.078;0.136;0.071;0.098;0.122;0.053;0.131;0.154	T	0.46952	-0.9154	10	0.66056	D	0.02	.	9.2246	0.37398	0.9153:0.0:0.0847:0.0	.	12;82;82;82;82;82;82;82;82;82;82	B7Z2X8;C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	S	82	ENSP00000366115:N82S;ENSP00000366100:N82S;ENSP00000431709:N82S;ENSP00000366091:N82S;ENSP00000409394:N82S;ENSP00000366088:N82S;ENSP00000366095:N82S;ENSP00000410866:N82S;ENSP00000379929:N82S;ENSP00000417405:N82S;ENSP00000379932:N82S	ENSP00000366088:N82S	N	+	2	0	MOG	29735231	0.014000	0.17966	0.991000	0.47740	0.989000	0.77384	1.649000	0.37281	2.183000	0.69458	0.533000	0.62120	AAT	MOG	-	pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000204655		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	MOG	HGNC	protein_coding	OTTHUMT00000076160.3		0	68	0	A	NM_002433		29627252	1			no_errors	ENST00000376898	ensembl	human	known	74_37	missense	6.25	44	3	SNP	0.991	G	G	29627252	A	G	29627252	3	3	114	1	0	0	0	0	1	0	0	0	9731	101	4	4	251	4	MOG	6	29627252	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	25527880	29627252	141487815	54	30658											
HSPA1B	3304	genome.wustl.edu	37	chr6	31795842	31795842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accagggcaaccgcaccaccCccagctacgtggccttcacg	9	4	9	19	3	1	0	1	0	0	0	1	0	1	0	6	2	3	3	6	2	2	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr6:31795842C>T	ENST00000375650.3	+	1	331	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	HSPA1B_ENST00000545241.1_Intron	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	39					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						CCGCACCACCCCCAGCTACGT	0.652																																																	0													14	15	15					6																	31795842		2191	4251	6442	SO:0001583	missense	0				CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"Heat shock proteins / HSP70"	5233	protein-coding gene	gene with protein product		603012	"heat shock 70kD protein 1B"			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.115C>T	6.37:g.31795842C>T	ENSP00000364801:p.Pro39Ser		B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P39S	ENST00000375650.3	37	c.115	CCDS34415.1	6	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092882	0.76756	.	.	ENSG00000204388	ENST00000542758;ENST00000375650;ENST00000545429;ENST00000418382	T	0.05319	3.46	4.5	4.5	0.54988	.	0.000000	0.40064	N	0.001186	T	0.12603	0.0306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00398	-1.1764	7	0.87932	D	0	.	15.0573	0.71925	0.0:1.0:0.0:0.0	.	.	.	.	S	106;39;39;39	ENSP00000364801:P39S	ENSP00000364801:P39S	P	+	1	0	HSPA1B	31903821	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.675000	0.84002	2.207000	0.71202	0.467000	0.42956	CCC	HSPA1B	-	pfam_Hsp_70_fam,prints_Hsp_70_fam	ENSG00000204388		0.652	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1B	HGNC	protein_coding	OTTHUMT00000076402.2	-	0	34	0	C			31795842	1	tier1	-	no_errors	ENST00000375650	ensembl	human	known	74_37	missense	62.50	9	15	SNP	1.000	T	T	31795842	C	T	31795842	3	4	114	1	0	0	0	0	1	0	0	0	7436	623	22	3	117	3	HSPA1B	6	31795842	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	2168590	31795842	139319225	55	30659											
SH3BGRL2	83699	genome.wustl.edu	37	chr6	80383498	80383498	+	Silent	SNP	T	T	C	0	1	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	ctgccacctcagatatttaaTggcgaccgatactgtggagt	10	11	10	10	2	1	1	1	0	0	1	1	4	1	2	3	2	2	0	3	2	3	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr6:80383498T>C	ENST00000369838.4	+	2	392	c.213T>C	c.(211-213)aaT>aaC	p.N71N		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamate-rich protein like 2	71						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		AGATATTTAATGGCGACCGAT	0.463																																																	0													118	125	123					6																	80383498		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ297972	CCDS4991.1	6q14.1	2014-02-19	2014-02-19		ENSG00000198478	ENSG00000198478			15567	protein-coding gene	gene with protein product		615678	"SH3 domain binding glutamic acid-rich protein like 2"			12095696	Standard	NM_031469		Approved		uc003piz.1	Q9UJC5	OTTHUMG00000015081	ENST00000369838.4:c.213T>C	6.37:g.80383498T>C			A8MQU2|Q2VPC2|Q5VV96|Q6NSK8|Q6P9E8|Q7Z734|Q8IWD3|Q9BPY5	Silent	SNP	pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	p.N71	ENST00000369838.4	37	c.213	CCDS4991.1	6																																																																																			SH3BGRL2	-	pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000198478		0.463	SH3BGRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGRL2	HGNC	protein_coding	OTTHUMT00000041309.1	-	0	14	0	T			80383498	1	tier1	-	no_errors	ENST00000369838	ensembl	human	known	74_37	silent	80.00	2	8	SNP	0.999	C	C	80383498	T	C	80383498	2	2	114	1	0	0	0	0	0	0	0	1	14287	1461	51	4		4	SH3BGRL2	6	80383498	Silent	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	48587656	80383498	90731569	56	30660											
CARD11	84433	genome.wustl.edu	37	chr7	2963891	2963891	+	Missense_Mutation	SNP	A	A	T	1	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	ccagagagaacttcctgaacAtgaggttgacctgctccagg	11	8	11	11	0	0	5	0	3	0	2	2	6	2	5	4	2	3	2	4	2	2	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:2963891A>T	ENST00000396946.4	-	15	2319	c.1916T>A	c.(1915-1917)aTg>aAg	p.M639K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	639					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTTCCTGAACATGAGGTTGAC	0.592			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													84	67	73					7																	2963891		2203	4300	6503	SO:0001583	missense	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1916T>A	7.37:g.2963891A>T	ENSP00000380150:p.Met639Lys		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.M639K	ENST00000396946.4	37	c.1916	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617362	0.46736	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.47869	0.83;0.83	5.15	5.15	0.70609	.	0.050940	0.85682	D	0.000000	T	0.21387	0.0515	N	0.03608	-0.345	0.51233	D	0.999915	B	0.28636	0.218	B	0.23574	0.047	T	0.16748	-1.0392	10	0.06099	T	0.92	-41.8671	13.5571	0.61765	1.0:0.0:0.0:0.0	.	639	Q9BXL7	CAR11_HUMAN	K	639;110	ENSP00000380150:M639K;ENSP00000347695:M110K	ENSP00000347695:M110K	M	-	2	0	CARD11	2930417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.319000	0.89992	1.957000	0.56846	0.454000	0.30748	ATG	CARD11	-	NULL	ENSG00000198286		0.592	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	-	0	50	0	A	NM_032415		2963891	-1	tier1	-	no_errors	ENST00000396946	ensembl	human	known	74_37	missense	13.33	52	8	SNP	1.000	T	T	2963891	A	T	2963891	3	4	114	1	0	0	0	0	1	0	0	0	2652	217	8	5	1592	5	CARD11	7	2963891	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09		2963891	156174772	57	30661											
MIOS	54468	genome.wustl.edu	37	chr7	7634722	7634722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgagctgaatttgatattCacaggagtaagttggatccc	13	11	10	7	1	1	2	1	2	0	0	2	5	2	4	1	2	2	3	1	2	4	5			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:7634722C>T	ENST00000340080.4	+	10	2576	c.2155C>T	c.(2155-2157)Cac>Tac	p.H719Y	MIOS_ENST00000405785.1_Missense_Mutation_p.H719Y	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	719						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						ATTTGATATTCACAGGAGTAA	0.338																																																	0													113	107	109					7																	7634722		1829	4095	5924	SO:0001583	missense	0				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.2155C>T	7.37:g.7634722C>T	ENSP00000339881:p.His719Tyr		B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	smart_WD40_repeat	p.H719Y	ENST00000340080.4	37	c.2155	CCDS43554.1	7	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509779	0.27036	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.41065	1.01;1.01	5.58	5.58	0.84498	.	0.040834	0.85682	D	0.000000	T	0.32406	0.0828	N	0.20766	0.605	0.80722	D	1	B;B	0.22003	0.063;0.063	B;B	0.17979	0.02;0.02	T	0.05053	-1.0909	10	0.27082	T	0.32	-13.772	19.9573	0.97224	0.0:1.0:0.0:0.0	.	719;719	B4DGE7;Q9NXC5	.;MIO_HUMAN	Y	719	ENSP00000339881:H719Y;ENSP00000384088:H719Y	ENSP00000339881:H719Y	H	+	1	0	MIOS	7601247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.439000	0.80444	2.794000	0.96219	0.655000	0.94253	CAC	MIOS	-	NULL	ENSG00000164654		0.338	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIOS	HGNC	protein_coding	OTTHUMT00000326218.1	-	0	67	0	C	NM_019005		7634722	1	tier1	-	no_errors	ENST00000340080	ensembl	human	known	74_37	missense	14.29	78	13	SNP	1.000	T	T	7634722	C	T	7634722	3	4	114	1	0	0	0	0	1	0	0	0	9627	826	29	3	2181	3	MIOS	7	7634722	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	4670831	7634722	151503941	58	30662											
DNAH11	8701	genome.wustl.edu	37	chr7	21730409	21730409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	atttcttggggaagctatcaCactgaagccatcagttggaa	12	11	10	8	0	3	1	2	1	1	0	3	3	3	3	1	3	2	2	1	3	4	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:21730409C>T	ENST00000409508.3	+	35	5982	c.5951C>T	c.(5950-5952)aCa>aTa	p.T1984I	DNAH11_ENST00000328843.6_Missense_Mutation_p.T1991I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1991	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)			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						GAAGCTATCACACTGAAGCCA	0.363									Kartagener syndrome																																								0													175	168	170					7																	21730409		1830	4089	5919	SO:0001583	missense	0	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.5951C>T	7.37:g.21730409C>T	ENSP00000475939:p.Thr1984Ile		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T1991I	ENST00000409508.3	37	c.5972		7	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626929	0.28978	.	.	ENSG00000105877	ENST00000328843	T	0.09911	2.93	6.17	0.994	0.19832	ATPase, AAA+ type, core (1);	0.963953	0.08663	N	0.912031	T	0.08313	0.0207	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36138	-0.9760	9	0.66056	D	0.02	.	5.6725	0.17731	0.1046:0.5695:0.2037:0.1222	.	1991	Q96DT5	DYH11_HUMAN	I	1991	ENSP00000330671:T1991I	ENSP00000330671:T1991I	T	+	2	0	DNAH11	21696934	0.000000	0.05858	0.069000	0.20011	0.898000	0.52572	-0.133000	0.10451	0.464000	0.27142	0.655000	0.94253	ACA	DNAH11	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000105877		0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	42	0	C	NM_003777		21730409	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.000	T	T	21730409	C	T	21730409	3	4	114	1	0	0	0	0	1	0	0	0	4613	478	17	3	6111	3	DNAH11	7	21730409	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	14095687	21730409	137408254	59	30663											
DNAH11	8701	genome.wustl.edu	37	chr7	21750323	21750323	+	Splice_Site	SNP	T	T	C	0	1	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	tgtaatggatgataacaaggTgaataaaacctctgttctca	15	12	8	6	0	2	2	1	2	2	0	3	3	2	3	1	2	2	2	1	2	6	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:21750323T>C	ENST00000409508.3	+	41	6865		c.e41+2		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						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						GATAACAAGGTGAATAAAACC	0.368									Kartagener syndrome																																								0													77	79	79					7																	21750323		2078	4246	6324	SO:0001630	splice_region_variant	0	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.6834+2T>C	7.37:g.21750323T>C			Q9UJ82	Splice_Site	SNP	-	e42+2	ENST00000409508.3	37	c.6855+2		7	.	.	.	.	.	.	.	.	.	.	T	22.4	4.278960	0.80692	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21716848	1.000000	0.71417	0.996000	0.52242	0.748000	0.42578	6.202000	0.72131	2.289000	0.77006	0.482000	0.46254	.	DNAH11	-	-	ENSG00000105877		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	43	0	T	NM_003777	Intron	21750323	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	splice_site	17.65	70	15	SNP	1.000	C	C	21750323	T	C	21750323	5	2	114	1	0	0	0	0	0	0	1	0	4613	1710	59	4	7020	4	DNAH11	7	21750323	Splice_Site	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	19914	21750323	137388340	60	30664											
DTX2	113878	genome.wustl.edu	37	chr7	76129758	76129758	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatgtacttctctcttctagGagcgaccccgaagccagagc	9	10	9	13	2	3	1	0	0	3	1	4	4	3	2	3	1	4	1	3	1	4	5	rs147644708		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:76129758G>A	ENST00000324432.5	+	8	1661	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	DTX2_ENST00000446820.2_Splice_Site_p.G337E|DTX2_ENST00000446600.1_Splice_Site_p.G293E|DTX2_ENST00000307569.8_Splice_Site_p.G337E|DTX2_ENST00000413936.2_Splice_Site_p.G384E|DTX2_ENST00000430490.2_Splice_Site_p.G384E	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	384			G -> E (in dbSNP:rs1638152). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:12670957, ECO:0000269|PubMed:15489334}.		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						TCTCTTCTAGGAGCGACCCCG	0.567																																																	0													2	3	3					7																	76129758		1198	3039	4237	SO:0001630	splice_region_variant	0				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.1151-1G>A	7.37:g.76129758G>A			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.G384E	ENST00000324432.5	37	c.1151	CCDS5587.1	7	.	.	.	.	.	.	.	.	.	.	.	9.359	1.067449	0.20067	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.11821	2.84;2.74;2.84;2.84;2.84;2.74	4.31	2.26	0.28386	.	0.555878	0.18661	N	0.134738	T	0.18002	0.0432	L	0.29908	0.895	0.36128	P	0.15403599999999995	B;D;D;B	0.89917	0.009;0.986;1.0;0.003	B;P;D;B	0.77557	0.009;0.796;0.99;0.004	T	0.18461	-1.0336	9	0.20046	T	0.44	.	5.3155	0.15852	0.1218:0.3006:0.5776:0.0	.	293;15;337;384	F5GX89;Q6P2H0;Q86UW9-2;Q86UW9	.;.;.;DTX2_HUMAN	E	384;337;293;293;384;384;337	ENSP00000322885:G384E;ENSP00000305242:G337E;ENSP00000397648:G293E;ENSP00000390218:G384E;ENSP00000411986:G384E;ENSP00000392545:G337E	ENSP00000305242:G337E	G	+	2	0	AC005522.1	75967694	0.730000	0.28100	0.990000	0.47175	0.470000	0.32858	1.148000	0.31614	1.091000	0.41335	0.655000	0.94253	GGA	DTX2	-	NULL	ENSG00000091073		0.567	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2	-	0	20	0	G		Missense_Mutation	76129758	1	tier1	rs147644708	no_errors	ENST00000324432	ensembl	human	known	74_37	missense	66.67	1	2	SNP	0.938	A	A	76129758	G	A	76129758	5	1	114	1	0	0	0	0	0	0	1	0	4808	1188	41	3	1169	3	DTX2	7	76129758	Splice_Site	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	54379435	76129758	83008905	61	30665											
CD36	948	genome.wustl.edu	37	chr7	80302674	80302674	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaacgtatattacagagtAttaaagaatctgaagaggaa	18	11	8	4	1	2	4	1	1	1	3	2	5	2	5	0	1	2	2	0	1	10	6			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:80302674A>C	ENST00000435819.1	+	16	1887	c.1203A>C	c.(1201-1203)gtA>gtC	p.V401V	CD36_ENST00000447544.2_Silent_p.V401V|CD36_ENST00000309881.7_Silent_p.V401V|CD36_ENST00000538969.1_Silent_p.V341V|CD36_ENST00000394788.3_Silent_p.V401V|CD36_ENST00000433696.2_Silent_p.V362V|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000534394.1_Silent_p.V325V|CD36_ENST00000432207.1_Silent_p.V401V			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	401					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						ATTACAGAGTATTAAAGAATC	0.249																																																	0													60	63	62					7																	80302674		2202	4269	6471	SO:0001819	synonymous_variant	0			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.1203A>C	7.37:g.80302674A>C			D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.V401	ENST00000435819.1	37	c.1203	CCDS34673.1	7																																																																																			CD36	-	pfam_CD36,prints_CD36_antigen	ENSG00000135218		0.249	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	-	0	25	0	A	NM_001001547		80302674	1	tier1	-	no_errors	ENST00000309881	ensembl	human	known	74_37	silent	19.23	21	5	SNP	0.106	C	C	80302674	A	C	80302674	2	2	114	1	0	0	0	0	0	0	0	1	3014	436	16	4		4	CD36	7	80302674	Silent	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	4172916	80302674	78835989	62	30666											
SSBP1	6742	genome.wustl.edu	37	chr7	141443477	141443477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgagatgtggcgatcaGgggatagtgaagtttaccaa	13	10	13	5	1	1	2	1	2	0	1	1	5	1	3	1	3	1	1	1	3	5	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr7:141443477G>A	ENST00000481508.1	+	4	637	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	SSBP1_ENST00000265304.6_Missense_Mutation_p.G68R|SSBP1_ENST00000484178.1_Missense_Mutation_p.G68R|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000498107.1_Missense_Mutation_p.G68R|SSBP1_ENST00000465582.1_Missense_Mutation_p.G68R	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	68	SSB.				DNA replication (GO:0006260)|mitochondrion morphogenesis (GO:0070584)|positive regulation of helicase activity (GO:0051096)	extracellular vesicular exosome (GO:0070062)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					GTGGCGATCAGGGGATAGTGA	0.388																																																	0													112	113	113					7																	141443477		2203	4300	6503	SO:0001583	missense	0			M94556	CCDS5866.1	7q34	2012-05-25	2012-05-25		ENSG00000106028	ENSG00000106028			11317	protein-coding gene	gene with protein product		600439	"single-stranded DNA-binding protein", "single-stranded DNA binding protein 1"			7789991	Standard	NM_001256510		Approved	SSBP, mtSSB	uc031szi.1	Q04837	OTTHUMG00000157572	ENST00000481508.1:c.202G>A	7.37:g.141443477G>A	ENSP00000419665:p.Gly68Arg			Missense_Mutation	SNP	pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd	p.G68R	ENST00000481508.1	37	c.202	CCDS5866.1	7	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158243	0.78114	.	.	ENSG00000106028	ENST00000265304;ENST00000498107;ENST00000467681;ENST00000465582;ENST00000463093;ENST00000484178;ENST00000481508	.	.	.	5.51	5.51	0.81932	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	N	0.05619	-0.005	0.80722	D	1	P;P	0.48230	0.907;0.535	P;B	0.48654	0.585;0.367	T	0.39375	-0.9617	9	0.27082	T	0.32	-13.2466	19.4184	0.94710	0.0:0.0:1.0:0.0	.	68;68	B7Z268;Q04837	.;SSBP_HUMAN	R	68	.	ENSP00000265304:G68R	G	+	1	0	SSBP1	141089946	1.000000	0.71417	0.984000	0.44739	0.916000	0.54674	8.653000	0.91088	2.590000	0.87494	0.561000	0.74099	GGG	SSBP1	-	pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd	ENSG00000106028		0.388	SSBP1-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SSBP1	HGNC	protein_coding	OTTHUMT00000349187.1	-	0	54	0	G	NM_003143		141443477	1	tier1	-	no_errors	ENST00000265304	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	141443477	G	A	141443477	3	1	114	1	0	0	0	0	1	0	0	0	15226	1000	35	3	212	3	SSBP1	7	141443477	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	61140803	141443477	17695186	63	30667											
DOCK5	80005	genome.wustl.edu	37	chr8	25190123	25190123	+	Missense_Mutation	SNP	T	T	C	0	1	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	tttttcttatcttcagttttTgcaagatacactagatgcac	10	18	5	8	0	3	2	1	0	2	2	3	2	3	2	0	0	3	3	0	0	4	8			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:25190123T>C	ENST00000276440.7	+	20	2050	c.2006T>C	c.(2005-2007)tTg>tCg	p.L669S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	669					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)		CTTCAGTTTTTGCAAGATACA	0.373																																					Pancreas(145;34 1887 3271 10937 30165)												0													98	89	92					8																	25190123		2203	4300	6503	SO:0001583	missense	0				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.2006T>C	8.37:g.25190123T>C	ENSP00000276440:p.Leu669Ser		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.L669S	ENST00000276440.7	37	c.2006	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541070	0.85917	.	.	ENSG00000147459	ENST00000276440	T	0.32988	1.43	5.86	5.86	0.93980	Armadillo-type fold (1);	0.074689	0.52532	D	0.000069	T	0.66973	0.2844	M	0.93550	3.43	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.76484	-0.2942	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	659;444;669	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	S	669	ENSP00000276440:L669S	ENSP00000276440:L669S	L	+	2	0	DOCK5	25246040	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.967000	0.87967	2.367000	0.80283	0.528000	0.53228	TTG	DOCK5	-	superfamily_ARM-type_fold	ENSG00000147459		0.373	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	-	0	46	0	T	NM_024940		25190123	1	tier1	-	no_errors	ENST00000276440	ensembl	human	known	74_37	missense	34.09	29	15	SNP	1.000	C	C	25190123	T	C	25190123	3	2	114	1	0	0	0	0	1	0	0	0	4704	1821	63	4	2084	4	DOCK5	8	25190123	Missense_Mutation	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09		25190123	121173899	64	30668											
AP3M2	10947	genome.wustl.edu	37	chr8	42025256	42025256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggggaccatgagtcttcagGctggagcttccaaaccagat	11	8	12	10	0	2	2	1	1	1	1	3	4	3	4	3	4	2	2	3	4	1	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:42025256G>T	ENST00000518421.1	+	9	1375	c.1084G>T	c.(1084-1086)Gct>Tct	p.A362S	AP3M2_ENST00000520685.1_3'UTR|AP3M2_ENST00000174653.3_Missense_Mutation_p.A362S|AP3M2_ENST00000396926.3_Missense_Mutation_p.A362S	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	362	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				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)			GAGTCTTCAGGCTGGAGCTTC	0.443																																																	0													154	156	155					8																	42025256		2203	4300	6503	SO:0001583	missense	0			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.1084G>T	8.37:g.42025256G>T	ENSP00000428787:p.Ala362Ser		B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.A362S	ENST00000518421.1	37	c.1084	CCDS6125.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.135|7.135	0.580730|0.580730	0.13686|0.13686	.|.	.|.	ENSG00000070718|ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280|ENST00000522606	T;T;T;T|.	0.15603|.	2.41;2.41;2.41;2.41|.	5.73|5.73	4.85|4.85	0.62838|0.62838	Clathrin adaptor, mu subunit, C-terminal (3);|.	0.102248|.	0.64402|.	D|.	0.000003|.	T|T	0.25531|0.25531	0.0621|0.0621	N|N	0.01009|0.01009	-1.055|-1.055	0.48185|0.48185	D|D	0.999609|0.999609	B|.	0.06786|.	0.001|.	B|.	0.14023|.	0.01|.	T|T	0.20472|0.20472	-1.0274|-1.0274	10|5	0.02654|.	T|.	1|.	-9.6563|-9.6563	14.9022|14.9022	0.70687|0.70687	0.0688:0.0:0.9312:0.0|0.0688:0.0:0.9312:0.0	.|.	362|.	P53677|.	AP3M2_HUMAN|.	S|S	362;362;362;247|52	ENSP00000428787:A362S;ENSP00000174653:A362S;ENSP00000380132:A362S;ENSP00000430616:A247S|.	ENSP00000174653:A362S|.	A|R	+|+	1|3	0|2	AP3M2|AP3M2	42144413|42144413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.237000|5.237000	0.65360|0.65360	1.420000|1.420000	0.47138|0.47138	-0.157000|-0.157000	0.13467|0.13467	GCT|AGG	AP3M2	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C	ENSG00000070718		0.443	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP3M2	HGNC	protein_coding	OTTHUMT00000376996.1		0	20	0	G			42025256	1			no_errors	ENST00000174653	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	42025256	G	T	42025256	3	4	114	1	0	0	0	0	1	0	0	0	748	1203	42	3	1110	3	AP3M2	8	42025256	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	16835133	42025256	104338766	65	30669											
CNGB3	54714	genome.wustl.edu	37	chr8	87641177	87641177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagagtcccatgtatattCataccaagtccgaactcgct	11	12	7	11	2	1	1	1	1	0	1	4	3	3	1	3	0	2	2	3	0	5	5			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:87641177C>T	ENST00000320005.5	-	12	1497	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	484					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						CATGTATATTCATACCAAGTC	0.408																																																	0													207	194	198					8																	87641177		2203	4300	6503	SO:0001583	missense	0			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.1450G>A	8.37:g.87641177C>T	ENSP00000316605:p.Glu484Lys		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E484K	ENST00000320005.5	37	c.1450	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233009	0.58777	.	.	ENSG00000170289	ENST00000320005	D	0.97016	-4.21	5.92	2.06	0.26882	Cyclic nucleotide-binding-like (1);	0.309481	0.33075	N	0.005315	D	0.92877	0.7734	L	0.46157	1.445	0.42420	D	0.992637	B;B	0.15719	0.014;0.008	B;B	0.21151	0.033;0.015	D	0.87593	0.2492	10	0.49607	T	0.09	.	8.4958	0.33127	0.0:0.7027:0.1102:0.187	.	484;484	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	K	484	ENSP00000316605:E484K	ENSP00000316605:E484K	E	-	1	0	CNGB3	87710293	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.186000	0.32078	0.392000	0.25172	0.555000	0.69702	GAA	CNGB3	-	superfamily_cNMP-bd-like	ENSG00000170289		0.408	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	-	0	84	0	C	NM_019098		87641177	-1	tier1	-	no_errors	ENST00000320005	ensembl	human	known	74_37	missense	15.79	80	15	SNP	1.000	T	T	87641177	C	T	87641177	3	4	114	1	0	0	0	0	1	0	0	0	3608	835	29	3	1007	3	CNGB3	8	87641177	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	45615921	87641177	58722845	66	30670											
VPS13B	157680	genome.wustl.edu	37	chr8	100871642	100871642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtatgaggggctgacccggGgccctggagccttcgtgagt	5	8	17	11	3	0	3	0	3	0	0	1	4	0	4	3	5	1	2	3	5	1	2	rs373947421		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:100871642G>T	ENST00000358544.2	+	57	11164	c.11053G>T	c.(11053-11055)Ggc>Tgc	p.G3685C	VPS13B_ENST00000357162.2_Missense_Mutation_p.G3660C|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3685					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)			GCTGACCCGGGGCCCTGGAGC	0.572																																					Colon(161;2205 2542 7338 31318)												0													54	59	57					8																	100871642		2203	4300	6503	SO:0001583	missense	0			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.11053G>T	8.37:g.100871642G>T	ENSP00000351346:p.Gly3685Cys		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.G3685C	ENST00000358544.2	37	c.11053	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788615	0.90367	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.75154	-0.9;-0.91	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88258	0.6388	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88689	0.3207	10	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	3660;3685	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	C	3660;3685	ENSP00000349685:G3660C;ENSP00000351346:G3685C	ENSP00000349685:G3660C	G	+	1	0	VPS13B	100940818	1.000000	0.71417	0.970000	0.41538	0.886000	0.51366	9.476000	0.97823	2.814000	0.96858	0.563000	0.77884	GGC	VPS13B	-	NULL	ENSG00000132549		0.572	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1		0	37	0	G	NM_184042		100871642	1			no_errors	ENST00000358544	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	100871642	G	T	100871642	3	4	114	1	0	0	0	0	1	0	0	0	17239	1232	43	3	11469	3	VPS13B	8	100871642	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	13230465	100871642	45492380	67	30671											
MTBP	27085	genome.wustl.edu	37	chr8	121473471	121473471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagatctaccctcctgctAtatgtcggatattgaatttg	10	15	7	9	1	2	2	1	1	1	1	4	3	3	3	2	1	2	1	2	1	5	6	rs371337948		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:121473471A>G	ENST00000305949.1	+	9	998	c.953A>G	c.(952-954)tAt>tGt	p.Y318C		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	318					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)			CCCTCCTGCTATATGTCGGAT	0.308																																																	0								A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	124	119	121		953	5.8	0.9	8		121	0,8600		0,0,4300	no	missense	MTBP	NM_022045.3	194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	318/905	121473471	1,13005	2203	4300	6503	SO:0001583	missense	0				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.953A>G	8.37:g.121473471A>G	ENSP00000303398:p.Tyr318Cys		B4DUR5|Q9HA89	Missense_Mutation	SNP	NULL	p.Y318C	ENST00000305949.1	37	c.953	CCDS6333.1	8	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318441	0.60524	2.27E-4	0.0	ENSG00000172167	ENST00000305949	.	.	.	5.82	5.82	0.92795	.	0.125201	0.53938	D	0.000051	T	0.70780	0.3263	M	0.62723	1.935	0.36416	D	0.864025	D	0.89917	1.0	D	0.76575	0.988	T	0.78283	-0.2264	9	0.72032	D	0.01	-18.9193	9.699	0.40175	0.7412:0.0:0.0:0.2588	.	318	Q96DY7	MTBP_HUMAN	C	318	.	ENSP00000303398:Y318C	Y	+	2	0	MTBP	121542652	0.997000	0.39634	0.924000	0.36721	0.964000	0.63967	3.320000	0.51991	2.216000	0.71823	0.450000	0.29827	TAT	MTBP	-	NULL	ENSG00000172167		0.308	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTBP	HGNC	protein_coding	OTTHUMT00000381530.1	-	0	57	0	A	NM_022045		121473471	1	tier1	-	no_errors	ENST00000305949	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.948	G	G	121473471	A	G	121473471	3	3	114	1	0	0	0	0	1	0	0	0	9950	449	16	4	987	4	MTBP	8	121473471	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	20601829	121473471	24890551	68	30672											
ADCY8	114	genome.wustl.edu	37	chr8	132052018	132052018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtttggtcagcacgtccaGcacgttcatcaccacttccg	8	10	9	14	3	3	0	3	0	0	0	5	1	5	0	3	1	2	4	3	1	0	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr8:132052018G>T	ENST00000286355.5	-	1	2654	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	ADCY8_ENST00000377928.3_Missense_Mutation_p.L188M	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	188					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)			AGCACGTCCAGCACGTTCATC	0.587										HNSCC(32;0.087)																																							0													98	99	98					8																	132052018		2203	4300	6503	SO:0001583	missense	0			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.562C>A	8.37:g.132052018G>T	ENSP00000286355:p.Leu188Met			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L188M	ENST00000286355.5	37	c.562	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778091	0.49786	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.42513	0.97;0.97	5.15	1.2	0.21068	.	0.099265	0.42682	D	0.000673	T	0.34077	0.0885	L	0.40543	1.245	0.31477	N	0.66764	P;P	0.40476	0.718;0.718	B;B	0.41813	0.367;0.367	T	0.39840	-0.9594	10	0.51188	T	0.08	.	9.8708	0.41172	0.2894:0.0:0.7106:0.0	.	188;188	E7EVL1;P40145	.;ADCY8_HUMAN	M	188	ENSP00000286355:L188M;ENSP00000367161:L188M	ENSP00000286355:L188M	L	-	1	2	ADCY8	132121200	0.997000	0.39634	0.998000	0.56505	0.996000	0.88848	0.971000	0.29396	0.186000	0.20125	0.455000	0.32223	CTG	ADCY8	-	NULL	ENSG00000155897		0.587	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	16	0	G			132052018	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.956	T	T	132052018	G	T	132052018	3	4	114	1	0	0	0	0	1	0	0	0	300	962	34	3	3265	3	ADCY8	8	132052018	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	10578547	132052018	14312004	69	30673											
C9orf93	203238	genome.wustl.edu	37	chr9	15744551	15744551	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactctagcccaggctttgtCaactgtagaggaaaagaagc	14	8	10	9	0	2	2	1	0	1	2	2	3	2	3	1	2	4	2	1	2	7	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr9:15744551C>G	ENST00000380701.3	+	17	2658	c.2330C>G	c.(2329-2331)tCa>tGa	p.S777*	CCDC171_ENST00000297641.3_Nonsense_Mutation_p.S777*	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	777																	CAGGCTTTGTCAACTGTAGAG	0.413																																																	0													102	108	106					9																	15744551		2203	4300	6503	SO:0001587	stop_gained	0			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.2330C>G	9.37:g.15744551C>G	ENSP00000370077:p.Ser777*		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Nonsense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.S777*	ENST00000380701.3	37	c.2330	CCDS6481.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	12.043356|12.043356	0.99630|0.99630	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000449575|ENST00000297641;ENST00000380689;ENST00000380701	.|.	.|.	.|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.132928	.|0.49916	.|D	.|0.000127	T|.	0.78155|.	0.4239|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78770|.	-0.2074|.	4|.	.|0.56958	.|D	.|0.05	-9.1015|-9.1015	19.6798|19.6798	0.95958|0.95958	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	17|777;44;777	.|.	.|ENSP00000297641:S777X	Q|S	+|+	1|2	0|0	C9orf93|C9orf93	15734551|15734551	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.989000|0.989000	0.77384|0.77384	3.757000|3.757000	0.55212|0.55212	2.733000|2.733000	0.93635|0.93635	0.467000|0.467000	0.42956|0.42956	CAA|TCA	CCDC171	-	NULL	ENSG00000164989		0.413	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	-	0	33	0	C	NM_173550		15744551	1	tier1	-	no_errors	ENST00000380701	ensembl	human	known	74_37	nonsense	33.33	14	7	SNP	0.997	G	G	15744551	C	G	15744551	4	3	114	1	0	0	0	0	0	1	0	0	2513	838	29	5	2392	5	C9orf93	9	15744551	Nonsense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09		15744551	125468880	70	30674											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18795491	18795491	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaccaatgccttgggataCgactctgtctccattgccgt	7	11	9	14	2	2	0	0	0	2	0	3	2	2	1	5	1	3	0	5	1	2	3	rs374445427		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr9:18795491C>T	ENST00000380548.4	+	20	4113	c.3774C>T	c.(3772-3774)taC>taT	p.Y1258Y	ADAMTSL1_ENST00000496521.2_3'UTR	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1258	Ig-like C2-type 2.					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)		CCTTGGGATACGACTCTGTCT	0.443													C|||	1	0.000199681	8e-04	0	5008	,	,		22380	0		0	False		,,,				2504	0																0								C		1,3925		0,1,1962	111	109	110		3774	-1.5	1	9		110	1,8299		0,1,4149	no	coding-synonymous	ADAMTSL1	NM_001040272.5		0,2,6111	TT,TC,CC		0.012,0.0255,0.0164		1258/1763	18795491	2,12224	1963	4150	6113	SO:0001819	synonymous_variant	0			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.3774C>T	9.37:g.18795491C>T			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.Y1258	ENST00000380548.4	37	c.3774	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000178031		0.443	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1		0	43	0	C			18795491	1			no_errors	ENST00000380548	ensembl	human	novel	74_37	silent	6.98	40	3	SNP	0.945	T	T	18795491	C	T	18795491	2	4	114	1	0	0	0	0	0	0	0	1	274	547	19	1		1	ADAMTSL1	9	18795491	Silent	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	3050940	18795491	122417940	71	30675											
DAB2IP	153090	genome.wustl.edu	37	chr9	124535315	124535315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgtgtaccagatggcGgctggcctgccgctgtcacc	6	8	12	15	2	1	1	1	0	0	1	1	1	1	1	5	3	3	3	5	3	2	1	rs373684988		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr9:124535315G>A	ENST00000408936.3	+	12	2690	c.2508G>A	c.(2506-2508)gcG>gcA	p.A836A	DAB2IP_ENST00000309989.1_Silent_p.A712A|DAB2IP_ENST00000259371.2_Silent_p.A808A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	836	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ACCAGATGGCGGCTGGCCTGC	0.682																																																	0													23	22	22					9																	124535315		2157	4226	6383	SO:0001819	synonymous_variant	0			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.2508G>A	9.37:g.124535315G>A			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.A836	ENST00000408936.3	37	c.2508		9																																																																																			DAB2IP	-	pfam_DUF3498	ENSG00000136848		0.682	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	-	0	14	0	G	NM_032552		124535315	1	tier1	-	no_errors	ENST00000408936	ensembl	human	known	74_37	silent	36.84	12	7	SNP	0.476	A	A	124535315	G	A	124535315	2	1	114	1	0	0	0	0	0	0	0	1	4228	1103	39	1		1	DAB2IP	9	124535315	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	105739824	124535315	16678116	72	30676											
CUBN	8029	genome.wustl.edu	37	chr10	16949507	16949507	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacaacatcctacattacCtgcatcttcactggaggtat	11	14	5	11	0	2	0	1	0	1	0	3	1	3	1	2	2	5	2	2	2	5	6			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr10:16949507C>T	ENST00000377833.4	-	49	7770	c.7705G>A	c.(7705-7707)Gtg>Atg	p.V2569M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2569					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)	CCTACATTACCTGCATCTTCA	0.463																																																	0													77	65	69					10																	16949507		2203	4300	6503	SO:0001630	splice_region_variant	0			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.7705+1G>A	10.37:g.16949507C>T			B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.V2569M	ENST00000377833.4	37	c.7705	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702901	0.88924	.	.	ENSG00000107611	ENST00000377833	T	0.76316	-1.01	5.23	5.23	0.72850	CUB (2);	0.168224	0.28176	N	0.016311	D	0.83128	0.5187	M	0.62723	1.935	0.80722	D	1	D	0.54397	0.966	P	0.53224	0.721	T	0.82542	-0.0405	9	.	.	.	.	19.1791	0.93615	0.0:1.0:0.0:0.0	.	2569	O60494	CUBN_HUMAN	M	2569	ENSP00000367064:V2569M	.	V	-	1	0	CUBN	16989513	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.971000	0.76105	2.603000	0.88011	0.650000	0.86243	GTG	CUBN	-	superfamily_CUB_dom	ENSG00000107611		0.463	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0	50	0	C	NM_001081	Missense_Mutation	16949507	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	25.35	53	18	SNP	1.000	T	T	16949507	C	T	16949507	5	4	114	1	0	0	0	0	0	0	1	0	4060	695	24	3	3242	3	CUBN	10	16949507	Splice_Site	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09		16949507	118585240	73	30677											
CCDC7	79741	genome.wustl.edu	37	chr10	32807402	32807402	+	Frame_Shift_Del	DEL	A	A	-																															agaagagaagttggtgctggAaaatgaactacaaaagttga																										TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr10:32807402delA	ENST00000362006.5	+	12	1505	c.962delA	c.(961-963)gaafs	p.E321fs	CCDC7_ENST00000277657.6_Frame_Shift_Del_p.E321fs	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	321										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTGGTGCTGGAAAATGAACTA	0.303																																																	0													80	89	86					10																	32807402		2203	4300	6503	SO:0001589	frameshift_variant	0			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.962delA	10.37:g.32807402delA	ENSP00000355078:p.Glu321fs		Q5VW55|Q8IVQ0|Q8NEQ0	Frame_Shift_Del	DEL	NULL	p.N322fs	ENST00000362006.5	37	c.962	CCDS7173.1	10																																																																																			CCDC7	-	NULL	ENSG00000216937		0.303	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1		0	24	0	A	NM_145023		32807402	1	tier1		no_errors	ENST00000277657	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	1.000	-	-	32807402	A	-	32807402	7	5	114	1	0	1	0	1	0	0	0	0	2849	246	9	0	1004	0	CCDC7	10	32807402	Frame_Shift_Del	DEL	A	TCGA-LN-A4A4-01A-11D-A27G-09	15857895	32807402	102727345	74	30678											
PCDH15	65217	genome.wustl.edu	37	chr10	55892731	55892731	+	Silent	SNP	T	T	C	0	1	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	ggagggctttgattatttggTggaagcacttcaatatacac	11	13	11	6	0	1	1	1	1	0	0	1	3	1	3	0	4	2	2	0	4	5	6			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr10:55892731T>C	ENST00000320301.6	-	15	2215	c.1821A>G	c.(1819-1821)ccA>ccG	p.P607P	PCDH15_ENST00000395433.1_Silent_p.P585P|PCDH15_ENST00000395445.1_Silent_p.P614P|PCDH15_ENST00000395430.1_Silent_p.P607P|PCDH15_ENST00000373957.3_Silent_p.P585P|PCDH15_ENST00000395432.2_Silent_p.P570P|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373965.2_Silent_p.P614P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Silent_p.P607P|PCDH15_ENST00000409834.1_Silent_p.P218P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Silent_p.P607P|PCDH15_ENST00000414778.1_Silent_p.P612P|PCDH15_ENST00000395438.1_Silent_p.P607P|PCDH15_ENST00000373955.1_Silent_p.P607P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	607	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATTATTTGGTGGAAGCACTT	0.413										HNSCC(58;0.16)																																							0													127	114	118					10																	55892731		2203	4300	6503	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1821A>G	10.37:g.55892731T>C			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	NULL	p.H43R	ENST00000320301.6	37	c.128	CCDS7248.1	10																																																																																			PCDH15	-	NULL	ENSG00000150275		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	60	0	T	NM_033056		55892731	-1	tier1	-	no_errors	ENST00000373956	ensembl	human	known	74_37	missense	37.50	34	21	SNP	0.978	C	C	55892731	T	C	55892731	2	2	114	1	0	0	0	0	0	0	0	1	11550	1683	59	4		4	PCDH15	10	55892731	Silent	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	23085329	55892731	79642016	75	30679											
PCGF6	84108	genome.wustl.edu	37	chr10	105110755	105110756	+	Frame_Shift_Del	DEL	CA	CA	-																															gagacaggaggcggaggcggCaaggctgcagctccctcggt																										TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr10:105110755_105110756delCA	ENST00000369847.3	-	1	135_136	c.68_69delTG	c.(67-69)ttgfs	p.L23fs	PCGF6_ENST00000337211.4_Frame_Shift_Del_p.L23fs|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	23	Pro-rich.		L -> LPP. {ECO:0000269|PubMed:12167161, ECO:0000269|PubMed:15489334}.		negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		gcggaggcggCAAGGCTGCAGC	0.743																																																	0																																										SO:0001589	frameshift_variant	0			AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	21156	protein-coding gene	gene with protein product		607816	"ring finger protein 134"	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.68_69delTG	10.37:g.105110755_105110756delCA	ENSP00000358862:p.Leu23fs		A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L23fs	ENST00000369847.3	37	c.69_68	CCDS31275.1	10																																																																																			PCGF6	-	NULL	ENSG00000156374		0.743	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF6	HGNC	protein_coding	OTTHUMT00000050132.1		0	16	0	CA	NM_032154		105110756	-1	tier1		no_errors	ENST00000369847	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.953:0.836	-	-	105110756	CA	-	105110755	7	5	114	1	0	1	0	1	0	0	0	0	11617	709	25	0	1023	0	PCGF6	10	105110755	Frame_Shift_Del	DEL	CA	TCGA-LN-A4A4-01A-11D-A27G-09	49218024	105110755	30423992	76	30680											
PLEKHA7	144100	genome.wustl.edu	37	chr11	16816072	16816072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagttggtgactgaagggggGatgtcactttcctcagctgg	7	12	15	7	0	2	2	2	2	0	0	3	3	3	3	1	5	1	2	1	5	2	3	rs541641545		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:16816072G>T	ENST00000355661.3	-	19	2718	c.2708C>A	c.(2707-2709)tCc>tAc	p.S903Y	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S903Y|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000332954.4_5'Flank|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S903Y			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	903	Pro-rich.				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						CTGAAGGGGGGATGTCACTTT	0.547																																																	0													66	70	69					11																	16816072		2200	4294	6494	SO:0001583	missense	0			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.2708C>A	11.37:g.16816072G>T	ENSP00000347883:p.Ser903Tyr		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.S903Y	ENST00000355661.3	37	c.2708	CCDS31434.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.682081|3.682081	0.68042|0.68042	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000530489|ENST00000531066;ENST00000355661;ENST00000448080	.|T;T;T	.|0.20881	.|2.04;2.04;2.04	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.346122	.|0.31697	.|N	.|0.007211	T|T	0.41743|0.41743	0.1172|0.1172	L|L	0.54323|0.54323	1.7|1.7	0.42212|0.42212	D|D	0.991813|0.991813	.|P;P;D;D	.|0.64830	.|0.919;0.788;0.994;0.993	.|B;B;P;P	.|0.60173	.|0.325;0.406;0.87;0.858	T|T	0.14952|0.14952	-1.0454|-1.0454	5|10	.|0.87932	.|D	.|0	-18.6678|-18.6678	19.9855|19.9855	0.97347|0.97347	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|477;903;903;903	.|Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.|.;.;PKHA7_HUMAN;.	T|Y	534|903	.|ENSP00000435389:S903Y;ENSP00000347883:S903Y;ENSP00000416895:S903Y	.|ENSP00000347883:S903Y	P|S	-|-	1|2	0|0	PLEKHA7|PLEKHA7	16772648|16772648	1.000000|1.000000	0.71417|0.71417	0.558000|0.558000	0.28319|0.28319	0.996000|0.996000	0.88848|0.88848	4.087000|4.087000	0.57671|0.57671	2.806000|2.806000	0.96561|0.96561	0.655000|0.655000	0.94253|0.94253	CCC|TCC	PLEKHA7	-	NULL	ENSG00000166689		0.547	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	HGNC	protein_coding	OTTHUMT00000387242.2		0	50	0	G	NM_175058		16816072	-1			no_errors	ENST00000448080	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.809	T	T	16816072	G	T	16816072	3	4	114	1	0	0	0	0	1	0	0	0	12100	1174	41	3	677	3	PLEKHA7	11	16816072	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		16816072	118190444	77	30681											
ALKBH3	221120	genome.wustl.edu	37	chr11	43904237	43904237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acggcgagcccgagttcaggGagcctgggctgcccctgtta	6	7	15	13	3	1	0	1	0	0	0	1	3	1	1	4	3	3	3	4	3	1	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:43904237G>A	ENST00000302708.4	+	2	446	c.35G>A	c.(34-36)gGa>gAa	p.G12E	ALKBH3_ENST00000378840.4_Missense_Mutation_p.G12E|RP11-613D13.5_ENST00000530450.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	12					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	CGAGTTCAGGGAGCCTGGGCT	0.488								Direct reversal of damage																																									0													49	52	51					11																	43904237		2203	4300	6503	SO:0001583	missense	0			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"Alkylation repair homologs"	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.35G>A	11.37:g.43904237G>A	ENSP00000302232:p.Gly12Glu		A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.G12E	ENST00000302708.4	37	c.35	CCDS7906.1	11	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563803	0.86335	.	.	ENSG00000166199	ENST00000302708;ENST00000378840;ENST00000524742;ENST00000529366	T;T	0.73575	0.7;-0.76	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.81143	0.4761	M	0.82630	2.6	0.50632	D	0.999883	D	0.55172	0.97	P	0.48815	0.591	D	0.84690	0.0722	10	0.87932	D	0	-25.7743	14.9952	0.71425	0.0:0.0:1.0:0.0	.	12	Q96Q83	ALKB3_HUMAN	E	12	ENSP00000302232:G12E;ENSP00000435848:G12E	ENSP00000302232:G12E	G	+	2	0	ALKBH3	43860813	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.826000	0.62715	2.678000	0.91216	0.650000	0.86243	GGA	ALKBH3	-	NULL	ENSG00000166199		0.488	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH3	HGNC	protein_coding	OTTHUMT00000389693.1	-	0	26	0	G	NM_139178		43904237	1	tier1	-	no_errors	ENST00000302708	ensembl	human	known	74_37	missense	80.00	3	12	SNP	1.000	A	A	43904237	G	A	43904237	3	1	114	1	0	0	0	0	1	0	0	0	528	1174	41	3	37	3	ALKBH3	11	43904237	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	27088165	43904237	91102279	78	30682											
GIF	2694	genome.wustl.edu	37	chr11	59610015	59610015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ctggcacagtgccaagatcgCtagactgggcccatagaagg	11	6	13	11	1	0	3	0	0	0	3	1	3	0	3	2	3	1	2	2	3	4	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:59610015C>G	ENST00000257248.2	-	4	459	c.412G>C	c.(412-414)Gcg>Ccg	p.A138P	GIF_ENST00000541311.1_Missense_Mutation_p.A113P	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	138					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GCCAAGATCGCTAGACTGGGC	0.562																																					NSCLC(53;1139 1245 16872 38474 42853)												0													91	77	82					11																	59610015		2201	4295	6496	SO:0001583	missense	0			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.412G>C	11.37:g.59610015C>G	ENSP00000257248:p.Ala138Pro		B2RAN8|B4DVZ1	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk	p.A138P	ENST00000257248.2	37	c.412	CCDS7977.1	11	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290731	0.80914	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.37584	1.19;1.19	5.63	5.63	0.86233	.	0.181621	0.38663	N	0.001607	T	0.55417	0.1919	M	0.65975	2.015	0.43693	D	0.996144	D	0.71674	0.998	D	0.65323	0.934	T	0.46555	-0.9183	10	0.31617	T	0.26	-15.2944	15.5476	0.76118	0.0:1.0:0.0:0.0	.	138	P27352	IF_HUMAN	P	138;113	ENSP00000257248:A138P;ENSP00000440427:A113P	ENSP00000257248:A138P	A	-	1	0	GIF	59366591	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.459000	0.53021	2.826000	0.97356	0.655000	0.94253	GCG	GIF	-	pfam_Cbl-bd_transpt_euk	ENSG00000134812		0.562	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIF	HGNC	protein_coding	OTTHUMT00000394497.1	-	0	48	0	C	NM_005142		59610015	-1	tier1	-	no_errors	ENST00000257248	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	G	G	59610015	C	G	59610015	3	3	114	1	0	0	0	0	1	0	0	0	6402	797	28	5	865	5	GIF	11	59610015	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	15705778	59610015	75396501	79	30683											
EML3	256364	genome.wustl.edu	37	chr11	62372637	62372638	+	Frame_Shift_Del	DEL	CA	CA	-																															cccactcgggtggaagtcagCacagagaccagtctcctggg																										TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:62372637_62372638delCA	ENST00000394773.2	-	16	2236_2237	c.1929_1930delTG	c.(1927-1932)tgtgctfs	p.A644fs	EML3_ENST00000531557.1_Frame_Shift_Del_p.A427fs|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Frame_Shift_Del_p.A616fs|EML3_ENST00000529309.1_Frame_Shift_Del_p.A644fs|EML3_ENST00000278845.4_Frame_Shift_Del_p.A645fs|EML3_ENST00000438258.1_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	644						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						TGGAAGTCAGCACAGAGACCAG	0.564																																																	0																																										SO:0001589	frameshift_variant	0			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.1929_1930delTG	11.37:g.62372639_62372640delCA	ENSP00000378254:p.Ala644fs		Q6ZQW7|Q8NA55	Frame_Shift_Del	DEL	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A644fs	ENST00000394773.2	37	c.1930_1929	CCDS8023.2	11																																																																																			EML3	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000149499		0.564	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1		0	64	0	CA	NM_153265		62372638	-1	tier1		no_errors	ENST00000529309	ensembl	human	known	74_37	frame_shift_del	64.91	20	37	DEL	1.000:1.000	-	-	62372638	CA	-	62372637	7	5	114	1	0	1	0	1	0	0	0	0	5114	710	25	0	788	0	EML3	11	62372637	Frame_Shift_Del	DEL	CA	TCGA-LN-A4A4-01A-11D-A27G-09	2762622	62372637	72633879	80	30684											
GRIA4	2893	genome.wustl.edu	37	chr11	105483048	105483048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaatacactgcttttcGattagcaatttttcttcata	11	17	5	8	1	3	0	2	0	1	0	4	2	3	1	0	1	3	2	0	1	5	8			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:105483048G>T	ENST00000530497.1	+	2	134	c.134G>T	c.(133-135)cGa>cTa	p.R45L	GRIA4_ENST00000393127.2_Missense_Mutation_p.R45L|GRIA4_ENST00000428631.2_Missense_Mutation_p.R45L|GRIA4_ENST00000525187.1_Missense_Mutation_p.R45L|GRIA4_ENST00000393125.2_Missense_Mutation_p.R45L|GRIA4_ENST00000527669.1_Missense_Mutation_p.R45L|GRIA4_ENST00000282499.5_Missense_Mutation_p.R45L			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	45					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)		ACTGCTTTTCGATTAGCAATT	0.408																																																	0													152	130	137					11																	105483048		2202	4299	6501	SO:0001583	missense	0			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.134G>T	11.37:g.105483048G>T	ENSP00000435775:p.Arg45Leu		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R45L	ENST00000530497.1	37	c.134	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397618	0.83120	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.91	5.91	0.95273	Extracellular ligand-binding receptor (1);	0.000000	0.53938	D	0.000054	D	0.88440	0.6437	L	0.39397	1.21	0.80722	D	1	B;B;B;B;D	0.63046	0.031;0.051;0.063;0.439;0.992	B;B;B;B;D	0.70487	0.022;0.017;0.03;0.201;0.969	D	0.88537	0.3107	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	45;45;75;45;45	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	L	45	ENSP00000376833:R45L;ENSP00000282499:R45L;ENSP00000376835:R45L;ENSP00000415551:R45L;ENSP00000432443:R45L;ENSP00000435775:R45L;ENSP00000432180:R45L	ENSP00000282499:R45L	R	+	2	0	GRIA4	104988258	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CGA	GRIA4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152578		0.408	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1		0	79	0	G			105483048	1			no_errors	ENST00000282499	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	105483048	G	T	105483048	3	4	114	1	0	0	0	0	1	0	0	0	6797	1058	37	2	140	2	GRIA4	11	105483048	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	43110411	105483048	29523468	81	30685											
CBL	867	genome.wustl.edu	37	chr11	119077233	119077233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tgaaggacgccttccagccgCaccaccaccaccaccaccac	11	3	6	21	2	0	1	0	1	0	0	1	2	1	2	9	1	1	1	9	1	1	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:119077233C>T	ENST00000264033.4	+	1	482	c.106C>T	c.(106-108)Cac>Tac	p.H36Y		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	36	Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTCCAGCCGcaccaccacca	0.672			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0													11	11	11					11																	119077233		2061	4083	6144	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.106C>T	11.37:g.119077233C>T	ENSP00000264033:p.His36Tyr		A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.H36Y	ENST00000264033.4	37	c.106	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	C	3.428	-0.116733	0.06838	.	.	ENSG00000110395	ENST00000264033	T	0.77620	-1.11	1.71	1.71	0.24356	.	0.000000	0.85682	U	0.000000	T	0.50956	0.1646	N	0.08118	0	0.42372	D	0.992457	B	0.18461	0.028	B	0.06405	0.002	T	0.35773	-0.9775	10	0.15066	T	0.55	-6.5774	6.8593	0.24058	0.0:1.0:0.0:0.0	.	36	P22681	CBL_HUMAN	Y	36	ENSP00000264033:H36Y	ENSP00000264033:H36Y	H	+	1	0	CBL	118582443	0.996000	0.38824	0.998000	0.56505	0.137000	0.21094	1.033000	0.30191	1.270000	0.44297	0.289000	0.19496	CAC	CBL	-	NULL	ENSG00000110395		0.672	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	-	0	22	0	C	NM_005188		119077233	1	tier1	-	no_errors	ENST00000264033	ensembl	human	known	74_37	missense	73.08	7	19	SNP	0.999	T	T	119077233	C	T	119077233	3	4	114	1	0	0	0	0	1	0	0	0	2707	710	25	3	108	3	CBL	11	119077233	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	13594185	119077233	15929283	82	30686											
OR10S1	219873	genome.wustl.edu	37	chr11	123847675	123847675	+	Missense_Mutation	SNP	T	T	C	0	1	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	ccggccctgggctgtgcggaTgcgcaacacagctgccacga	7	5	14	15	4	0	0	0	0	0	0	0	2	0	1	3	3	5	3	3	3	1	0			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:123847675T>C	ENST00000531945.1	-	1	813	c.724A>G	c.(724-726)Atc>Gtc	p.I242V		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTGTGCGGATGCGCAACACA	0.587																																																	0													48	48	48					11																	123847675		2202	4299	6501	SO:0001583	missense	0			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.724A>G	11.37:g.123847675T>C	ENSP00000431914:p.Ile242Val		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I242V	ENST00000531945.1	37	c.724	CCDS31701.1	11	.	.	.	.	.	.	.	.	.	.	T	8.864	0.947599	0.18356	.	.	ENSG00000196248	ENST00000531945	T	0.00267	8.38	4.85	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.161103	0.28748	U	0.014268	T	0.00178	0.0005	M	0.64080	1.96	0.09310	N	1	B	0.18461	0.028	B	0.15052	0.012	T	0.39663	-0.9603	10	0.39692	T	0.17	-12.6181	4.4635	0.11678	0.1461:0.1632:0.0:0.6907	.	242	Q8NGN2	O10S1_HUMAN	V	242	ENSP00000431914:I242V	ENSP00000431914:I242V	I	-	1	0	OR10S1	123352885	0.907000	0.30839	0.134000	0.22075	0.014000	0.08584	2.113000	0.41902	0.874000	0.35823	0.533000	0.62120	ATC	OR10S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196248		0.587	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10S1	HGNC	protein_coding	OTTHUMT00000387265.2	-	0	22	0	T	NM_001004474		123847675	-1	tier1	-	no_errors	ENST00000531945	ensembl	human	known	74_37	missense	47.06	9	8	SNP	0.000	C	C	123847675	T	C	123847675	3	2	114	1	0	0	0	0	1	0	0	0	10957	1464	51	4	275	4	OR10S1	11	123847675	Missense_Mutation	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	4770442	123847675	11158841	83	30687											
OR10G8	219869	genome.wustl.edu	37	chr11	123900746	123900746	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgatgactgggcgctcGtgtactcttctggccaccag	7	10	12	12	2	2	2	0	2	2	0	3	2	2	2	2	2	2	3	2	2	1	2	rs540634723		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:123900746G>T	ENST00000431524.1	+	1	450	c.417G>T	c.(415-417)tcG>tcT	p.S139S		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	139						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)		CTGGGCGCTCGTGTACTCTTC	0.562																																																	0													159	146	150					11																	123900746		2201	4299	6500	SO:0001819	synonymous_variant	0			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.417G>T	11.37:g.123900746G>T			B2RNJ3|Q6IEV2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S139	ENST00000431524.1	37	c.417	CCDS31704.1	11																																																																																			OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000234560		0.562	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	-	0	105	0	G	NM_001004464		123900746	1	tier1	-	no_errors	ENST00000431524	ensembl	human	known	74_37	silent	28.79	94	38	SNP	0.000	T	T	123900746	G	T	123900746	2	4	114	1	0	0	0	0	0	0	0	1	10942	1132	40	2		2	OR10G8	11	123900746	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	53071	123900746	11105770	84	30688											
OR8B12	219858	genome.wustl.edu	37	chr11	124413294	124413294	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaaatgatgttcttccttGagacaaaactcatcagcatt	14	12	7	8	0	3	2	2	2	1	1	4	4	4	3	1	1	2	2	1	1	3	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:124413294G>C	ENST00000306842.2	-	1	281	c.257C>G	c.(256-258)tCa>tGa	p.S86*		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	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)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		GTTCTTCCTTGAGACAAAACT	0.433																																																	0													87	83	84					11																	124413294		2201	4299	6500	SO:0001587	stop_gained	0				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.257C>G	11.37:g.124413294G>C	ENSP00000307159:p.Ser86*		B2RNF6|Q6IEW8|Q96RC7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S86*	ENST00000306842.2	37	c.257	CCDS31711.1	11	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718997	0.68844	.	.	ENSG00000170953	ENST00000306842	.	.	.	3.89	3.89	0.44902	.	0.319279	0.22908	N	0.054166	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	4.9971	0.14245	0.1058:0.0:0.6835:0.2108	.	.	.	.	X	86	.	ENSP00000307159:S86X	S	-	2	0	OR8B12	123918504	0.000000	0.05858	0.971000	0.41717	0.718000	0.41266	0.774000	0.26675	2.457000	0.83068	0.650000	0.86243	TCA	OR8B12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000170953		0.433	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B12	HGNC	protein_coding	OTTHUMT00000387061.1	-	0	28	0	G			124413294	-1	tier1	-	no_errors	ENST00000306842	ensembl	human	known	74_37	nonsense	61.54	10	16	SNP	0.981	C	C	124413294	G	C	124413294	4	2	114	1	0	0	0	0	0	1	0	0	11265	1294	45	5	677	5	OR8B12	11	124413294	Nonsense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	512548	124413294	10593222	85	30689											
PANX3	116337	genome.wustl.edu	37	chr11	124489477	124489477	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagattgttagcctctcCagtgtagcaatatacaccat	11	13	6	11	0	1	1	0	0	1	1	3	1	2	1	4	0	3	3	4	0	5	6			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr11:124489477C>A	ENST00000284288.2	+	4	892	c.825C>A	c.(823-825)tcC>tcA	p.S275S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	275					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTAGCCTCTCCAGTGTAGCAA	0.463																																																	0													117	107	111					11																	124489477		2201	4299	6500	SO:0001819	synonymous_variant	0			AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.825C>A	11.37:g.124489477C>A				Silent	SNP	pfam_Innexin,pfscan_Innexin	p.S275	ENST00000284288.2	37	c.825	CCDS8447.1	11																																																																																			PANX3	-	pfscan_Innexin	ENSG00000154143		0.463	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX3	HGNC	protein_coding	OTTHUMT00000387064.1	-	0	76	0	C			124489477	1	tier1	-	no_errors	ENST00000284288	ensembl	human	known	74_37	silent	18.89	73	17	SNP	0.164	A	A	124489477	C	A	124489477	2	1	114	1	0	0	0	0	0	0	0	1	11461	581	21	3		3	PANX3	11	124489477	Silent	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	76183	124489477	10517039	86	30690											
LRP6	4040	genome.wustl.edu	37	chr12	12312804	12312804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagttaggccgtttgcccGccccacatttggaactaagg	10	10	10	11	2	0	0	0	0	0	0	0	1	0	1	4	3	2	2	4	3	5	5			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:12312804G>A	ENST00000261349.4	-	11	2450	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	LRP6_ENST00000543091.1_Missense_Mutation_p.R792W	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	792	Beta-propeller 3.				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)				CCGTTTGCCCGCCCCACATTT	0.403																																																	0													143	130	135					12																	12312804		2203	4300	6503	SO:0001583	missense	0			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.2374C>T	12.37:g.12312804G>A	ENSP00000261349:p.Arg792Trp		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R792W	ENST00000261349.4	37	c.2374	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777828	0.90195	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.95554	-3.74;-3.74	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.56097	D	0.000037	D	0.94886	0.8347	N	0.11818	0.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.93260	0.6642	10	0.19590	T	0.45	.	19.7619	0.96323	0.0:0.0:1.0:0.0	.	792;792	F5H7J9;O75581	.;LRP6_HUMAN	W	792	ENSP00000261349:R792W;ENSP00000442472:R792W	ENSP00000261349:R792W	R	-	1	2	LRP6	12204071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.681000	0.91329	0.561000	0.74099	CGG	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000070018		0.403	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	-	0	61	0	G			12312804	-1	tier1	-	no_errors	ENST00000261349	ensembl	human	known	74_37	missense	13.19	79	12	SNP	1.000	A	A	12312804	G	A	12312804	3	1	114	1	0	0	0	0	1	0	0	0	8997	1086	38	1	2519	1	LRP6	12	12312804	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		12312804	121539091	87	30691											
PLEKHA5	54477	genome.wustl.edu	37	chr12	19518920	19518920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagatgaaacacagaccGcaaatcataaaccagaagag	20	4	7	10	1	2	5	2	1	0	4	2	5	2	5	2	0	2	1	2	0	6	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:19518920G>T	ENST00000299275.6	+	24	3139	c.3133G>T	c.(3133-3135)Gca>Tca	p.A1045S	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.A1034S|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.A1108S|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.A1027S|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.A803S|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.A989S|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.A1211S|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.A1103S|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.A1103S	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	1045					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)	p.A1206T(1)|p.A1045T(1)		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)					AACACAGACCGCAAATCATAA	0.313																																					Pancreas(196;329 2193 11246 14234 19524)												2	Substitution - Missense(2)	large_intestine(2)											74	68	70					12																	19518920		2203	4300	6503	SO:0001583	missense	0			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.3133G>T	12.37:g.19518920G>T	ENSP00000299275:p.Ala1045Ser		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.A1108S	ENST00000299275.6	37	c.3322	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	A	7.048	0.563899	0.13498	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000538972	T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	4.45	-3.19	0.05171	.	0.677862	0.13821	N	0.360427	T	0.17408	0.0418	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.28055	0.017;0.01;0.001;0.038;0.199	B;B;B;B;B	0.31442	0.033;0.015;0.004;0.038;0.13	T	0.15378	-1.0439	10	0.34782	T	0.22	-0.797	2.1216	0.03727	0.2511:0.2626:0.3577:0.1286	.	1027;1034;989;1045;1103	F5H0I0;E7EME8;Q9HAU0-5;Q9HAU0;Q9HAU0-2	.;.;.;PKHA5_HUMAN;.	S	1108;1103;989;1211;1045;803;1103;1034;1027;326	ENSP00000325155:A1108S;ENSP00000347560:A1103S;ENSP00000352104:A989S;ENSP00000404296:A1211S;ENSP00000299275:A1045S;ENSP00000440611:A803S;ENSP00000439673:A1103S;ENSP00000400411:A1034S;ENSP00000439837:A1027S;ENSP00000443553:A326S	ENSP00000299275:A1045S	A	+	1	0	PLEKHA5	19410187	0.097000	0.21791	0.011000	0.14972	0.065000	0.16274	-0.152000	0.10159	-1.071000	0.03145	-0.530000	0.04314	GCA	PLEKHA5	-	NULL	ENSG00000052126		0.313	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1		0	23	0	G	NM_019012		19518920	1			no_errors	ENST00000317589	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.117	T	T	19518920	G	T	19518920	3	4	114	1	0	0	0	0	1	0	0	0	12098	1087	38	2	3545	2	PLEKHA5	12	19518920	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	7206116	19518920	114332975	88	30692											
ABCC9	10060	genome.wustl.edu	37	chr12	22005402	22005402	+	Missense_Mutation	SNP	T	T	C	0	1	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	tcccctcctgcattaaatgaTcactcaagtgaatgtccagg	11	11	7	12	0	2	2	2	2	0	0	5	2	5	2	4	1	1	1	4	1	4	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:22005402T>C	ENST00000261201.4	-	21	2542	c.2543A>G	c.(2542-2544)gAt>gGt	p.D848G	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.D848G|ABCC9_ENST00000345162.2_Missense_Mutation_p.D812G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	848	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CATTAAATGATCACTCAAGTG	0.408																																																	0													111	104	106					12																	22005402		2203	4300	6503	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2543A>G	12.37:g.22005402T>C	ENSP00000261201:p.Asp848Gly		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.D848G	ENST00000261201.4	37	c.2543	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629725	0.46944	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	4.58	4.58	0.56647	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.116529	0.64402	D	0.000019	T	0.81384	0.4811	N	0.20766	0.605	0.80722	D	1	B;B	0.24963	0.093;0.115	B;B	0.22880	0.042;0.03	T	0.76170	-0.3057	10	0.09843	T	0.71	-19.5617	12.9755	0.58534	0.0:0.0:0.0:1.0	.	848;848	O60706;O60706-2	ABCC9_HUMAN;.	G	848;475;848;812	ENSP00000261200:D848G;ENSP00000440521:D475G;ENSP00000261201:D848G;ENSP00000261202:D812G	ENSP00000261200:D848G	D	-	2	0	ABCC9	21896669	1.000000	0.71417	0.990000	0.47175	0.872000	0.50106	7.532000	0.81985	2.039000	0.60335	0.528000	0.53228	GAT	ABCC9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000069431		0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	42	0	T	NM_005691		22005402	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	17.86	46	10	SNP	1.000	C	C	22005402	T	C	22005402	3	2	114	1	0	0	0	0	1	0	0	0	59	1435	50	4	2320	4	ABCC9	12	22005402	Missense_Mutation	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	2486482	22005402	111846493	89	30693											
KIF21A	55605	genome.wustl.edu	37	chr12	39735383	39735383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcttcatcctcatgatc	3	17	1	20	0	5	1	2	1	3	0	13	1	12	1	7	0	0	0	7	0	0	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000395670.3_Silent_p.E615E			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	0			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	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.E615	ENST00000361418.5	37	c.1845	CCDS53776.1	12																																																																																			KIF21A	-	superfamily_ARM-type_fold	ENSG00000139116		0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1		0	36	0	C	NM_017641		39735383	-1			no_errors	ENST00000395670	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.969	T	T	39735383	C	T	39735383	2	4	114	1	0	0	0	0	0	0	0	1	8315	680	24	3		3	KIF21A	12	39735383	Silent	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	17729981	39735383	94116512	90	30694											
MFSD5	84975	genome.wustl.edu	37	chr12	53646926	53646926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcccttgtggattggctgGgtcgcaagaattcttgtgtc	5	14	12	10	1	1	1	0	0	1	1	4	2	2	2	2	3	0	2	2	3	2	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:53646926G>T	ENST00000329548.4	+	2	498	c.307G>T	c.(307-309)Ggt>Tgt	p.G103C	MFSD5_ENST00000534842.1_Missense_Mutation_p.G210C	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	103					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GGATTGGCTGGGTCGCAAGAA	0.502																																																	0													254	260	258					12																	53646926		2203	4300	6503	SO:0001583	missense	0			AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.307G>T	12.37:g.53646926G>T	ENSP00000332624:p.Gly103Cys		G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G210C	ENST00000329548.4	37	c.628	CCDS8851.1	12	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773542	0.69992	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	D;D	0.90324	-2.65;-2.65	4.3	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95818	0.8639	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96686	0.9507	10	0.87932	D	0	-5.6038	15.6853	0.77405	0.0:0.0:1.0:0.0	.	103;210	Q6N075;G3V1N7	MFSD5_HUMAN;.	C	210;210;210;103	ENSP00000442688:G210C;ENSP00000332624:G103C	ENSP00000331231:G210C	G	+	1	0	MFSD5	51933193	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.367000	0.97148	2.239000	0.73571	0.561000	0.74099	GGT	MFSD5	-	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000182544		0.502	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD5	HGNC	protein_coding	OTTHUMT00000406896.1	-	0	55	0	G	NM_032889		53646926	1	tier1	-	no_errors	ENST00000534842	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	53646926	G	T	53646926	3	4	114	1	0	0	0	0	1	0	0	0	9572	1232	43	3	634	3	MFSD5	12	53646926	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	13911543	53646926	80204969	91	30695											
NUP107	57122	genome.wustl.edu	37	chr12	69127301	69127301	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggattctatagcagaaatctAtaatcagtgcgaggaacaag	16	9	10	6	1	3	1	1	0	2	1	3	4	3	3	0	2	3	1	0	2	7	5			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:69127301A>G	ENST00000229179.4	+	24	2503	c.2171A>G	c.(2170-2172)tAt>tGt	p.Y724C	NUP107_ENST00000378905.2_Missense_Mutation_p.Y485C|NUP107_ENST00000401003.3_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.Y695C	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	724					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GCAGAAATCTATAATCAGTGC	0.383																																																	0													104	102	103					12																	69127301		2203	4300	6503	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2171A>G	12.37:g.69127301A>G	ENSP00000229179:p.Tyr724Cys		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.Y724C	ENST00000229179.4	37	c.2171	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	a	12.00	1.807005	0.31961	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.52	4.38	0.52667	.	0.053004	0.85682	N	0.000000	T	0.68320	0.2988	M	0.68952	2.095	0.31626	N	0.64972	B;D;B	0.89917	0.132;1.0;0.132	B;D;B	0.85130	0.05;0.997;0.05	T	0.73000	-0.4120	8	.	.	.	-10.2572	11.7987	0.52114	0.9312:0.0:0.0688:0.0	.	695;485;724	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	C	724;485;695	.	.	Y	+	2	0	NUP107	67413568	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	5.715000	0.68430	1.044000	0.40200	-0.253000	0.11424	TAT	NUP107	-	pfam_Nup84_Nup100	ENSG00000111581		0.383	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	-	0	30	0	A	NM_020401		69127301	1	tier1	-	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	21.88	25	7	SNP	1.000	G	G	69127301	A	G	69127301	3	3	114	1	0	0	0	0	1	0	0	0	10792	449	16	4	2265	4	NUP107	12	69127301	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	15480375	69127301	64724594	92	30696											
TSPAN8	7103	genome.wustl.edu	37	chr12	71526592	71526592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctccattgaccaaacCgcagcatttaaactgtttga	13	10	7	11	1	0	2	0	2	0	0	1	2	1	2	3	0	5	5	3	0	3	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:71526592C>T	ENST00000393330.2	-	10	1009	c.457G>A	c.(457-459)Ggt>Agt	p.G153S	TSPAN8_ENST00000546561.1_Missense_Mutation_p.G153S|TSPAN8_ENST00000247829.3_Missense_Mutation_p.G153S|TSPAN8_ENST00000552128.1_Missense_Mutation_p.G70S			P19075	TSN8_HUMAN	tetraspanin 8	153					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TTGACCAAACCGCAGCATTTA	0.348																																																	0													122	113	116					12																	71526592		2203	4300	6503	SO:0001583	missense	0			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.457G>A	12.37:g.71526592C>T	ENSP00000377003:p.Gly153Ser		B2R7T7|Q9BS78	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.G153S	ENST00000393330.2	37	c.457	CCDS8999.1	12	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769430	0.90020	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	D;D;D;D	0.99194	-5.54;-5.54;-5.54;-5.54	5.86	5.86	0.93980	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.99612	0.9859	H	0.98068	4.14	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.97828	1.0261	10	0.87932	D	0	.	17.6797	0.88239	0.0:1.0:0.0:0.0	.	153	P19075	TSN8_HUMAN	S	153;153;153;70	ENSP00000377003:G153S;ENSP00000247829:G153S;ENSP00000447160:G153S;ENSP00000449820:G70S	ENSP00000247829:G153S	G	-	1	0	TSPAN8	69812859	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.346000	0.52190	2.777000	0.95525	0.591000	0.81541	GGT	TSPAN8	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000127324		0.348	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN8	HGNC	protein_coding	OTTHUMT00000404737.1	-	0	41	0	C	NM_004616		71526592	-1	tier1	-	no_errors	ENST00000247829	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	T	T	71526592	C	T	71526592	3	4	114	1	0	0	0	0	1	0	0	0	16701	652	23	1	268	1	TSPAN8	12	71526592	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	2399291	71526592	62325303	93	30697											
ZNF10	7556	genome.wustl.edu	37	chr12	133727694	133727694	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacactgctcagcagatcgtGtacagaaatgtgatgctgga	12	9	12	8	1	1	3	1	1	0	2	2	5	1	4	0	1	4	4	0	1	2	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr12:133727694G>T	ENST00000248211.6	+	3	336	c.114G>T	c.(112-114)gtG>gtT	p.V38V	ZNF10_ENST00000402932.2_Silent_p.V38V|ZNF10_ENST00000426665.2_Silent_p.V38V|ZNF10_ENST00000540927.1_3'UTR|ZNF268_ENST00000416488.1_Silent_p.V38V|CTD-2140B24.4_ENST00000540096.2_Silent_p.V38V	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGCAGATCGTGTACAGAAATG	0.433																																																	0													232	210	218					12																	133727694		2203	4300	6503	SO:0001819	synonymous_variant	0			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"Zinc fingers, C2H2-type", "-"	12879	protein-coding gene	gene with protein product		194538	"zinc finger protein 10 (KOX 1)"			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.114G>T	12.37:g.133727694G>T			B2RBS1|Q8TC91	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V38	ENST00000248211.6	37	c.114	CCDS9283.1	12																																																																																			ZNF10	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000256223		0.433	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF10	HGNC	protein_coding	OTTHUMT00000397182.1		0	56	0	G	NM_015394		133727694	1			no_errors	ENST00000248211	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.998	T	T	133727694	G	T	133727694	2	4	114	1	0	0	0	0	0	0	0	1	17760	1364	48	3		3	ZNF10	12	133727694	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	62201102	133727694	124201	94	30698											
ENOX1	55068	genome.wustl.edu	37	chr13	43986993	43986994	+	Missense_Mutation	DNP	TC	TC	AA																															gcatttacctgcagccatcaTctgaggaagctcctggggaa																										TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr13:43986993_43986994TC>AA	ENST00000261488.6	-	4	634_635	c.57_58GA>TT	c.(55-60)caGAtg>caTTtg	p.19_20QM>HL	ENOX1_ENST00000412891.1_Missense_Mutation_p.19_20QM>HL	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	19					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCAGCCATCATCTGAGGAAGCT	0.475																																																	0																																										SO:0001583	missense	0			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.57_58delinsAA	13.37:g.43986993_43986994delinsAA	ENSP00000261488:p.Q19_M20delinsHL		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M20L|p.Q19H	ENST00000261488.6	37	c.58|c.57	CCDS9389.1	13																																																																																			ENOX1	-	NULL	ENSG00000120658		0.475	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	-	0	66|65	0	T|C	NM_017993		43986993|43986994	-1	tier1	-	no_errors	ENST00000261488	ensembl	human	known	74_37	missense	38.60	35	22	SNP	1.000	A	AA	43986994	TC	AA	43986993	3	1	114	1	0	0	0	0	1	0	0	0	5142	1435	50	5	1929	5	ENOX1	13	43986993	Missense_Mutation	DNP	TC	TCGA-LN-A4A4-01A-11D-A27G-09		43986993	71182885	95	30699											
DACH1	1602	genome.wustl.edu	37	chr13	72063217	72063217	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctggaggcagtggttgtccaTgcccagttagagagagtttg	8	11	15	7	0	0	2	0	0	0	2	1	4	1	3	2	3	1	4	2	3	1	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr13:72063217T>C	ENST00000359684.2	-	8	1795	c.1796A>G	c.(1795-1797)cAt>cGt	p.H599R	DACH1_ENST00000313174.7_Missense_Mutation_p.H399R|DACH1_ENST00000354591.4_Missense_Mutation_p.H345R|DACH1_ENST00000305425.4_Missense_Mutation_p.H547R			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	599					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	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 transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGTTGTCCATGCCCAGTTAG	0.448																																																	0													221	222	222					13																	72063217		1917	4129	6046	SO:0001583	missense	0			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1796A>G	13.37:g.72063217T>C	ENSP00000352712:p.His599Arg		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.H599R	ENST00000359684.2	37	c.1796		13	.	.	.	.	.	.	.	.	.	.	T	17.67	3.445965	0.63178	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.29655	1.58;1.59;1.58;1.56	5.11	5.11	0.69529	.	0.140372	0.48767	D	0.000175	T	0.43942	0.1270	L	0.36672	1.1	0.36327	D	0.858608	B;P;D	0.55605	0.103;0.935;0.972	B;D;P	0.64042	0.085;0.921;0.822	T	0.52668	-0.8545	10	0.52906	T	0.07	-8.5249	15.1886	0.73025	0.0:0.0:0.0:1.0	.	343;397;545	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	R	547;399;345;599;599	ENSP00000304994:H547R;ENSP00000318506:H399R;ENSP00000346604:H345R;ENSP00000352712:H599R	ENSP00000304994:H547R	H	-	2	0	DACH1	70961218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.393000	0.73217	2.057000	0.61298	0.460000	0.39030	CAT	DACH1	-	NULL	ENSG00000165659		0.448	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	-	0	46	0	T	NM_004392		72063217	-1	tier1	-	no_errors	ENST00000359684	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	C	C	72063217	T	C	72063217	3	2	114	1	0	0	0	0	1	0	0	0	4229	1464	51	4	506	4	DACH1	13	72063217	Missense_Mutation	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	28076224	72063217	43106661	96	30700											
TPP2	7174	genome.wustl.edu	37	chr13	103330576	103330576	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattattgtattttgttgtaGctgatgaagttacttggatg	9	20	10	2	0	0	2	0	2	0	0	0	3	0	3	0	1	2	5	0	1	6	10			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr13:103330576G>A	ENST00000376065.4	+	29	3696		c.e29-1		TPP2_ENST00000466153.1_Splice_Site|RP11-29B2.5_ENST00000602560.1_lincRNA|TPP2_ENST00000376052.3_Splice_Site	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II						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)					TTTTGTTGTAGCTGATGAAGT	0.318																																																	0													86	84	85					13																	103330576		2203	4300	6503	SO:0001630	splice_region_variant	0			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.3661-1G>A	13.37:g.103330576G>A			Q5VZU8	Splice_Site	SNP	-	e29-1	ENST00000376065.4	37	c.3661-1	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860209	0.71834	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1014	0.93275	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPP2	102128577	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	9.150000	0.94667	2.586000	0.87340	0.655000	0.94253	.	TPP2	-	-	ENSG00000134900		0.318	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2		0	30	0	G		Intron	103330576	1			no_errors	ENST00000376065	ensembl	human	known	74_37	splice_site	11.43	31	4	SNP	1.000	A	A	103330576	G	A	103330576	5	1	114	1	0	0	0	0	0	0	1	0	16460	985	34	3	3774	3	TPP2	13	103330576	Splice_Site	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	31267359	103330576	11839302	97	30701											
OR4K1	79544	genome.wustl.edu	37	chr14	20404271	20404271	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttttgtgtctatttcctGggcggtgggcgttcttcatt	4	19	11	7	2	3	0	1	0	2	0	4	0	4	0	1	3	0	1	1	3	2	7			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:20404271G>A	ENST00000285600.4	+	1	505	c.446G>A	c.(445-447)tGg>tAg	p.W149*		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCTATTTCCTGGGCGGTGGGC	0.463																																																	0													140	134	136					14																	20404271		2203	4300	6503	SO:0001587	stop_gained	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.446G>A	14.37:g.20404271G>A	ENSP00000285600:p.Trp149*		B9EKV9|Q8NGD6|Q96R73	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.W149*	ENST00000285600.4	37	c.446	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	33	5.272077	0.95429	.	.	ENSG00000155249	ENST00000285600	.	.	.	4.82	4.82	0.62117	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.418	0.74987	0.0:0.0:1.0:0.0	.	.	.	.	X	149	.	ENSP00000285600:W149X	W	+	2	0	OR4K1	19474111	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	3.021000	0.49651	2.487000	0.83934	0.563000	0.77884	TGG	OR4K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000155249		0.463	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	-	0	77	0	G			20404271	1	tier1	-	no_errors	ENST00000285600	ensembl	human	known	74_37	nonsense	8.61	137	13	SNP	0.998	A	A	20404271	G	A	20404271	4	1	114	1	0	0	0	0	0	1	0	0	11106	1357	47	3	448	3	OR4K1	14	20404271	Nonsense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		20404271	86945269	98	30702											
FAM177A1	283635	genome.wustl.edu	37	chr14	35515698	35515698	+	Intron	SNP	T	T	C	0	1	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	gggcttaccggccattacccTctttctcaccagcgccagca	7	9	8	17	2	2	0	1	0	2	0	3	0	2	0	5	2	4	2	5	2	2	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:35515698T>C	ENST00000382406.3	+	2	29				FAM177A1_ENST00000396472.1_Intron|FAM177A1_ENST00000554052.1_3'UTR|FAM177A1_ENST00000280987.4_Missense_Mutation_p.L10P			Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1											breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						GCCATTACCCTCTTTCTCACC	0.682																																																	0													17	20	19					14																	35515698		2198	4299	6497	SO:0001627	intron_variant	0			BG722411	CCDS9653.2, CCDS41944.1	14q13.2	2008-07-09	2008-07-09	2008-07-09	ENSG00000151327	ENSG00000151327			19829	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 24"	C14orf24			Standard	NM_001079519		Approved		uc001wsq.3	Q8N128	OTTHUMG00000140217	ENST00000382406.3:c.-28-13T>C	14.37:g.35515698T>C			Q68CT2	Missense_Mutation	SNP	NULL	p.L10P	ENST00000382406.3	37	c.29	CCDS41944.1	14	.	.	.	.	.	.	.	.	.	.	T	13.36	2.214825	0.39102	.	.	ENSG00000151327	ENST00000280987	.	.	.	4.36	4.36	0.52297	.	0.000000	0.30658	U	0.009146	T	0.61060	0.2317	.	.	.	0.58432	D	0.999999	P	0.51537	0.946	P	0.48627	0.584	T	0.67252	-0.5717	8	0.87932	D	0	.	12.2305	0.54484	0.0:0.0:0.0:1.0	.	10	Q8N128-2	.	P	10	.	ENSP00000280987:L10P	L	+	2	0	FAM177A1	34585449	0.021000	0.18746	0.051000	0.19133	0.351000	0.29236	2.457000	0.45005	1.959000	0.56917	0.260000	0.18958	CTC	FAM177A1	-	NULL	ENSG00000151327		0.682	FAM177A1-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM177A1	HGNC	protein_coding	OTTHUMT00000410816.1	-	0	58	0	T	NM_173607		35515698	1	tier1	-	no_errors	ENST00000280987	ensembl	human	known	74_37	missense	16.17	280	54	SNP	0.012	C	C	35515698	T	C	35515698	1	2	114	0	1	0	0	0	0	0	0	0	5520	1551	54	4		4	FAM177A1	14	35515698	Intron	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	15111427	35515698	71833842	99	30703											
KTN1	3895	genome.wustl.edu	37	chr14	56142634	56142634	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtagctggtgatttgcatAaggtaggcactgttcgtcct	8	13	13	7	1	0	1	0	1	0	0	2	1	1	1	1	4	2	6	1	4	3	5			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:56142634A>G	ENST00000395314.3	+	41	3921	c.3853A>G	c.(3853-3855)Aag>Gag	p.K1285E	KTN1_ENST00000395309.3_Missense_Mutation_p.K1285E|KTN1_ENST00000395311.1_Missense_Mutation_p.K1234E|KTN1_ENST00000555573.1_Missense_Mutation_p.K262E|KTN1_ENST00000554507.1_Missense_Mutation_p.K523E|KTN1_ENST00000416613.1_Missense_Mutation_p.K1285E|KTN1_ENST00000438792.2_Missense_Mutation_p.K1228E|KTN1_ENST00000395308.1_Missense_Mutation_p.K1234E|KTN1_ENST00000413890.2_Missense_Mutation_p.K1234E	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1285					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TGATTTGCATAAGGTAGGCAC	0.368			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													165	154	157					14																	56142634		2203	4300	6503	SO:0001583	missense	0				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3853A>G	14.37:g.56142634A>G	ENSP00000378725:p.Lys1285Glu		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.K1285E	ENST00000395314.3	37	c.3853	CCDS41957.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.71|19.71	3.878540|3.878540	0.72294|0.72294	.|.	.|.	ENSG00000126777|ENSG00000126777	ENST00000554294|ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000555573	.|T;T;T;T;T;T;T;T;T	.|0.77750	.|1.54;1.48;1.54;1.48;1.54;1.54;1.48;-1.12;-1.12	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.56097	.|D	.|0.000024	T|T	0.78375|0.78375	0.4273|0.4273	N|N	0.24115|0.24115	0.695|0.695	0.39816|0.39816	D|D	0.972777|0.972777	.|P;P;P;D;P;D	.|0.76494	.|0.692;0.692;0.692;0.999;0.652;0.998	.|P;P;P;D;B;D	.|0.87578	.|0.448;0.448;0.664;0.996;0.399;0.998	T|T	0.78460|0.78460	-0.2195|-0.2195	5|10	.|0.38643	.|T	.|0.18	-14.4645|-14.4645	9.5301|9.5301	0.39189|0.39189	0.9213:0.0:0.0787:0.0|0.9213:0.0:0.0787:0.0	.|.	.|262;1257;523;1228;1234;1285	.|B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.|.;.;.;.;.;KTN1_HUMAN	M|E	55|1234;1285;1228;1285;1234;1234;1285;523;262	.|ENSP00000394992:K1234E;ENSP00000378720:K1285E;ENSP00000391964:K1228E;ENSP00000378725:K1285E;ENSP00000378719:K1234E;ENSP00000378722:K1234E;ENSP00000388807:K1285E;ENSP00000452073:K523E;ENSP00000451698:K262E	.|ENSP00000334083:K80E	I|K	+|+	3|1	3|0	KTN1|KTN1	55212387|55212387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	6.624000|6.624000	0.74243|0.74243	2.207000|2.207000	0.71202|0.71202	0.477000|0.477000	0.44152|0.44152	ATA|AAG	KTN1	-	NULL	ENSG00000126777		0.368	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	-	0	37	0	A			56142634	1	tier1	-	no_errors	ENST00000395309	ensembl	human	known	74_37	missense	29.17	34	14	SNP	1.000	G	G	56142634	A	G	56142634	3	3	114	1	0	0	0	0	1	0	0	0	8613	363	13	4	4011	4	KTN1	14	56142634	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	20626936	56142634	51206906	100	30704											
C14orf37	145407	genome.wustl.edu	37	chr14	58604975	58604975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtttccccttcaggcagccCcagagccacctgtgcagcct	6	9	9	17	0	1	1	1	0	0	1	2	1	2	1	7	1	4	3	7	1	0	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:58604975C>A	ENST00000267485.7	-	2	1296	c.1102G>T	c.(1102-1104)Ggg>Tgg	p.G368W	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	368						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						TCAGGCAGCCCCAGAGCCACC	0.552																																																	0													140	139	139					14																	58604975		2203	4300	6503	SO:0001583	missense	0				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.1102G>T	14.37:g.58604975C>A	ENSP00000267485:p.Gly368Trp		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.G368W	ENST00000267485.7	37	c.1102	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312196	0.60414	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.25579	1.79	5.97	4.14	0.48551	.	0.248529	0.35805	N	0.002965	T	0.42337	0.1198	L	0.55481	1.735	0.09310	N	1	D;D;D;D	0.76494	0.989;0.999;0.989;0.989	D;D;D;D	0.76575	0.955;0.988;0.955;0.955	T	0.19289	-1.0310	10	0.62326	D	0.03	-8.2942	9.1068	0.36703	0.0:0.827:0.0:0.173	.	406;368;368;368	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	W	368;406	ENSP00000267485:G368W	ENSP00000267485:G368W	G	-	1	0	C14orf37	57674728	0.000000	0.05858	0.530000	0.27963	0.089000	0.18198	0.524000	0.22940	0.837000	0.34925	0.655000	0.94253	GGG	C14orf37	-	NULL	ENSG00000139971		0.552	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	-	0	41	0	C	NM_001001872		58604975	-1	tier1	-	no_errors	ENST00000267485	ensembl	human	known	74_37	missense	44.44	30	24	SNP	0.068	A	A	58604975	C	A	58604975	3	1	114	1	0	0	0	0	1	0	0	0	1776	623	22	3	1250	3	C14orf37	14	58604975	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	2462341	58604975	48744565	101	30705											
PCNX	22990	genome.wustl.edu	37	chr14	71374637	71374637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgggggctggtactacGacccgcaccaggccaccttc	7	6	12	16	3	1	0	1	0	0	0	2	1	1	0	4	4	3	3	4	4	2	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:71374637G>T	ENST00000304743.2	+	1	516	c.70G>T	c.(70-72)Gac>Tac	p.D24Y	PCNX_ENST00000439984.3_Missense_Mutation_p.D24Y|PCNX_ENST00000238570.5_Missense_Mutation_p.D24Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	24						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)		CTGGTACTACGACCCGCACCA	0.711																																																	0													53	36	42					14																	71374637		2201	4300	6501	SO:0001583	missense	0			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.70G>T	14.37:g.71374637G>T	ENSP00000304192:p.Asp24Tyr		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.D24Y	ENST00000304743.2	37	c.70	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	g	14.82	2.649180	0.47362	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.63255	-0.03;-0.03;-0.03	2.36	1.43	0.22495	.	0.342511	0.22179	U	0.063529	T	0.68220	0.2977	M	0.65677	2.01	0.36664	D	0.878093	D;D;P	0.65815	0.995;0.995;0.852	P;P;P	0.58928	0.791;0.848;0.655	T	0.70880	-0.4752	10	0.87932	D	0	.	6.2683	0.20941	0.1584:0.0:0.8416:0.0	.	24;24;24	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	Y	24	ENSP00000304192:D24Y;ENSP00000238570:D24Y;ENSP00000396617:D24Y	ENSP00000238570:D24Y	D	+	1	0	PCNX	70444390	1.000000	0.71417	0.266000	0.24541	0.951000	0.60555	6.276000	0.72601	0.316000	0.23135	0.290000	0.19541	GAC	PCNX	-	NULL	ENSG00000100731		0.711	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	-	0	55	0	G	NM_014982		71374637	1	tier1	-	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	13.41	71	11	SNP	1.000	T	T	71374637	G	T	71374637	3	4	114	1	0	0	0	0	1	0	0	0	11630	1058	37	2	72	2	PCNX	14	71374637	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	12769662	71374637	35974903	102	30706											
VIPAR	63894	genome.wustl.edu	37	chr14	77895359	77895359	+	Missense_Mutation	SNP	A	A	G	1	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	ggggactcacatcaatgacgAcatcatggcacttgaactta	13	9	9	10	1	3	2	3	2	0	0	3	4	3	3	0	3	1	1	0	3	3	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr14:77895359A>G	ENST00000553888.1	-	18	1856	c.1346T>C	c.(1345-1347)gTc>gCc	p.V449A	VIPAS39_ENST00000343765.2_Missense_Mutation_p.V449A|VIPAS39_ENST00000557658.1_Missense_Mutation_p.V449A|VIPAS39_ENST00000448935.2_Missense_Mutation_p.V400A|VIPAS39_ENST00000327028.4_Missense_Mutation_p.V436A|VIPAS39_ENST00000556412.1_Missense_Mutation_p.V475A	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	449					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											ATCAATGACGACATCATGGCA	0.473																																																	0													153	122	133					14																	77895359		2203	4300	6503	SO:0001583	missense	0			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.1346T>C	14.37:g.77895359A>G	ENSP00000452181:p.Val449Ala		B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	pfam_Golgin_subfamily_A_member_5	p.V449A	ENST00000553888.1	37	c.1346	CCDS9862.1	14	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747618	0.89663	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.54	5.54	0.83059	.	0.103856	0.64402	D	0.000003	T	0.47655	0.1457	L	0.42245	1.32	0.54753	D	0.999989	P;P	0.50819	0.939;0.878	P;P	0.51453	0.67;0.458	T	0.37220	-0.9715	10	0.07813	T	0.8	-12.3656	14.6448	0.68754	1.0:0.0:0.0:0.0	.	400;449	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	A	449;449;436;449;400;475	ENSP00000339122:V449A;ENSP00000452181:V449A;ENSP00000313098:V436A;ENSP00000452191:V449A;ENSP00000404815:V400A;ENSP00000451857:V475A	ENSP00000313098:V436A	V	-	2	0	VIPAR	76965112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.672000	0.91181	2.094000	0.63399	0.533000	0.62120	GTC	VIPAS39	-	pfam_Golgin_subfamily_A_member_5	ENSG00000151445		0.473	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPAS39	HGNC	protein_coding	OTTHUMT00000414008.1		0	54	0	A	NM_022067		77895359	-1			no_errors	ENST00000343765	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	G	G	77895359	A	G	77895359	3	3	114	1	0	0	0	0	1	0	0	0	17217	275	10	4	147	4	VIPAR	14	77895359	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	6520722	77895359	29454181	103	30707											
TUBGCP5	114791	genome.wustl.edu	37	chr15	22842144	22842144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaccgttagaagaacaaGatcaaaacagaaaactggat	20	5	9	7	1	1	4	1	0	0	4	1	6	1	6	1	2	3	1	1	2	8	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr15:22842144G>T	ENST00000283645.4	+	6	713	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.D195Y	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	195					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGAAGAACAAGATCAAAACAG	0.403																																																	0													110	105	106					15																	22842144		2203	4300	6503	SO:0001583	missense	0			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.583G>T	15.37:g.22842144G>T	ENSP00000283645:p.Asp195Tyr		E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	pfam_TUBGCP	p.D195Y	ENST00000283645.4	37	c.583	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	.	15.26	2.779334	0.49891	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.24538	1.85;1.85	5.16	4.24	0.50183	.	0.185157	0.44902	D	0.000412	T	0.31327	0.0793	L	0.60455	1.87	0.52501	D	0.999954	P;P	0.40794	0.729;0.729	B;B	0.42386	0.276;0.386	T	0.15065	-1.0450	10	0.72032	D	0.01	-13.2926	14.1096	0.65113	0.0:0.1604:0.8396:0.0	.	195;195	Q96RT8;E9PB12	GCP5_HUMAN;.	Y	195	ENSP00000283645:D195Y;ENSP00000409217:D195Y	ENSP00000283645:D195Y	D	+	1	0	TUBGCP5	20393585	1.000000	0.71417	0.281000	0.24762	0.863000	0.49368	7.030000	0.76484	1.298000	0.44778	0.591000	0.81541	GAT	TUBGCP5	-	NULL	ENSG00000153575		0.403	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2		0	24	0	G	NM_052903		22842144	1			no_errors	ENST00000283645	ensembl	human	known	74_37	missense	6.67	27	2	SNP	0.980	T	T	22842144	G	T	22842144	3	4	114	1	0	0	0	0	1	0	0	0	16818	942	33	3	605	3	TUBGCP5	15	22842144	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		22842144	79689248	104	30708											
PLA2G4D	283748	genome.wustl.edu	37	chr15	42363452	42363452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgcctgggccagcgccgtgCctggctgcagccacgaggcc	5	5	15	16	3	0	0	0	0	0	0	0	1	0	0	6	3	5	2	6	3	0	0			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr15:42363452C>T	ENST00000290472.3	-	17	1839	c.1745G>A	c.(1744-1746)gGc>gAc	p.G582D		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	582	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)		CAGCGCCGTGCCTGGCTGCAG	0.647																																																	0													25	29	28					15																	42363452		2202	4297	6499	SO:0001583	missense	0			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.1745G>A	15.37:g.42363452C>T	ENSP00000290472:p.Gly582Asp		Q8N176	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.G582D	ENST00000290472.3	37	c.1745	CCDS32203.1	15	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703625	0.30232	.	.	ENSG00000159337	ENST00000290472	T	0.04234	3.67	5.23	5.23	0.72850	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.271248	0.31542	N	0.007468	T	0.09024	0.0223	M	0.70275	2.135	0.09310	N	1	P	0.48764	0.915	P	0.45343	0.477	T	0.31833	-0.9929	10	0.13108	T	0.6	-14.4414	13.326	0.60459	0.1587:0.8413:0.0:0.0	.	582	Q86XP0	PA24D_HUMAN	D	582	ENSP00000290472:G582D	ENSP00000290472:G582D	G	-	2	0	PLA2G4D	40150744	0.393000	0.25237	0.164000	0.22755	0.074000	0.17049	2.725000	0.47294	2.466000	0.83321	0.650000	0.86243	GGC	PLA2G4D	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000159337		0.647	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	HGNC	protein_coding	OTTHUMT00000419317.1	-	0	50	0	C	NM_178034		42363452	-1	tier1	-	no_errors	ENST00000290472	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.015	T	T	42363452	C	T	42363452	3	4	114	1	0	0	0	0	1	0	0	0	12043	739	26	3	727	3	PLA2G4D	15	42363452	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	19521308	42363452	60167940	105	30709											
LRRC57	255252	genome.wustl.edu	37	chr15	42837391	42837391	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaagcatgctgagctcaaGacaattctcttccaggcgaa	12	8	11	10	1	2	2	1	1	1	1	4	4	3	3	1	2	3	3	1	2	4	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr15:42837391G>C	ENST00000323443.2	-	4	929	c.562C>G	c.(562-564)Ctt>Gtt	p.L188V	LRRC57_ENST00000563454.1_Missense_Mutation_p.L188V|LRRC57_ENST00000397130.3_Missense_Mutation_p.L188V			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	188						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		CTGAGCTCAAGACAATTCTCT	0.413																																																	0													95	90	92					15																	42837391		2203	4299	6502	SO:0001583	missense	0			AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.562C>G	15.37:g.42837391G>C	ENSP00000326817:p.Leu188Val		Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L188V	ENST00000323443.2	37	c.562	CCDS10089.1	15	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292826	0.80914	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.65916	-0.18;-0.18	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	M	0.80982	2.52	0.80722	D	1	D	0.62365	0.991	P	0.50192	0.634	T	0.75280	-0.3373	10	0.59425	D	0.04	.	12.4369	0.55604	0.0769:0.0:0.9231:0.0	.	188	Q8N9N7	LRC57_HUMAN	V	188	ENSP00000326817:L188V;ENSP00000380319:L188V	ENSP00000326817:L188V	L	-	1	0	LRRC57	40624683	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.798000	0.55522	2.520000	0.84964	0.557000	0.71058	CTT	LRRC57	-	NULL	ENSG00000180979		0.413	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC57	HGNC	protein_coding	OTTHUMT00000253174.1	-	0	40	0	G	NM_153260		42837391	-1	tier1	-	no_errors	ENST00000323443	ensembl	human	known	74_37	missense	30.00	28	12	SNP	1.000	C	C	42837391	G	C	42837391	3	2	114	1	0	0	0	0	1	0	0	0	9048	942	33	5	165	5	LRRC57	15	42837391	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	473939	42837391	59694001	106	30710											
SLC12A1	6557	genome.wustl.edu	37	chr15	48500102	48500102	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagactcagaatcagcttTaggcctgggaatcaggagtg	14	8	12	7	0	3	2	3	0	0	2	3	4	3	4	1	3	1	1	1	3	5	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr15:48500102T>G	ENST00000558405.1	+	1	200	c.186T>G	c.(184-186)ttT>ttG	p.F62L	SLC12A1_ENST00000396577.3_Missense_Mutation_p.F62L|SLC12A1_ENST00000561031.1_Missense_Mutation_p.F62L|SLC12A1_ENST00000380993.3_Missense_Mutation_p.F62L|SLC12A1_ENST00000330289.6_Missense_Mutation_p.F62L			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	62					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)	GAATCAGCTTTAGGCCTGGGA	0.438																																																	0													90	88	89					15																	48500102		2198	4297	6495	SO:0001583	missense	0				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.186T>G	15.37:g.48500102T>G	ENSP00000453409:p.Phe62Leu		A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.F62L	ENST00000558405.1	37	c.186	CCDS10129.2	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.47|14.47	2.545255|2.545255	0.45280|0.45280	.|.	.|.	ENSG00000074803|ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289|ENST00000546071	D;D;D|.	0.91068|.	-1.87;-1.87;-2.78|.	5.05|5.05	2.69|2.69	0.31865|0.31865	.|.	0.089181|.	0.48767|.	D|.	0.000165|.	T|.	0.16300|.	0.0392|.	N|N	0.08118|0.08118	0|0	0.30918|0.30918	N|N	0.728307|0.728307	B;B|.	0.26602|.	0.154;0.001|.	B;B|.	0.23419|.	0.046;0.004|.	T|.	0.29731|.	-1.0002|.	10|.	0.49607|0.02654	T|T	0.09|1	.|.	6.2171|6.2171	0.20661|0.20661	0.0:0.3828:0.0:0.6172|0.0:0.3828:0.0:0.6172	.|.	62;62|.	Q8IUN5;Q13621|.	.;S12A1_HUMAN|.	L|X	62|36	ENSP00000370381:F62L;ENSP00000379822:F62L;ENSP00000331550:F62L|.	ENSP00000331550:F62L|ENSP00000441148:L36X	F|L	+|+	3|2	2|0	SLC12A1|SLC12A1	46287394|46287394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.579000|0.579000	0.23788|0.23788	0.943000|0.943000	0.37553|0.37553	0.533000|0.533000	0.62120|0.62120	TTT|TTA	SLC12A1	-	prints_Na/K/Cl_cotranspt2	ENSG00000074803		0.438	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0	24	0	T			48500102	1	tier1	-	no_errors	ENST00000380993	ensembl	human	known	74_37	missense	67.65	11	23	SNP	1.000	G	G	48500102	T	G	48500102	3	3	114	1	0	0	0	0	1	0	0	0	14427	1751	61	4	188	4	SLC12A1	15	48500102	Missense_Mutation	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	5662711	48500102	54031290	107	30711											
CACNA1H	8912	genome.wustl.edu	37	chr16	1261734	1261734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccctgatgtcgctgttcGtgctgtcatccaaggatgga	7	11	13	10	2	1	1	1	1	0	0	4	3	2	3	2	3	1	3	2	3	1	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:1261734G>T	ENST00000348261.5	+	24	4743	c.4495G>T	c.(4495-4497)Gtg>Ttg	p.V1499L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1499L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1499L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1499					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.V1499M(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GTCGCTGTTCGTGCTGTCATC	0.657																																																	1	Substitution - Missense(1)	central_nervous_system(1)											61	65	64					16																	1261734		2103	4224	6327	SO:0001583	missense	0			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.4495G>T	16.37:g.1261734G>T	ENSP00000334198:p.Val1499Leu		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.V1499L	ENST00000348261.5	37	c.4495	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807106	0.70797	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97959	-4.63;-4.63	4.49	4.49	0.54785	Ion transport (1);	0.065702	0.64402	D	0.000012	D	0.98476	0.9492	M	0.75615	2.305	0.50813	D	0.999893	D;D;D;P;P	0.89917	1.0;0.998;0.998;0.937;0.903	D;D;D;P;P	0.79108	0.982;0.992;0.961;0.833;0.896	D	0.99486	1.0949	10	0.87932	D	0	.	16.6839	0.85300	0.0:0.0:1.0:0.0	.	240;240;240;1499;1499	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	L	1499	ENSP00000334198:V1499L;ENSP00000351401:V1499L	ENSP00000334198:V1499L	V	+	1	0	CACNA1H	1201735	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	9.341000	0.97041	2.486000	0.83907	0.491000	0.48974	GTG	CACNA1H	-	pfam_Ion_trans_dom	ENSG00000196557		0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1		0	32	0	G	NM_001005407		1261734	1			no_errors	ENST00000348261	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T	T	1261734	G	T	1261734	3	4	114	1	0	0	0	0	1	0	0	0	2552	1145	40	2	4585	2	CACNA1H	16	1261734	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		1261734	89093019	108	30712											
CREBBP	1387	genome.wustl.edu	37	chr16	3781439	3781439	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggggggcagggtgttgatGacaggcccagcgtgcaggtg	7	7	20	7	1	0	2	0	2	0	0	0	2	0	2	1	6	2	3	1	6	0	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:3781439G>A	ENST00000262367.5	-	30	5735	c.4926C>T	c.(4924-4926)gtC>gtT	p.V1642V	CREBBP_ENST00000382070.3_Silent_p.V1604V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1642	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGTGTTGATGACAGGCCCAG	0.632			"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													25	18	20					16																	3781439		2193	4300	6493	SO:0001819	synonymous_variant	0			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.4926C>T	16.37:g.3781439G>A			D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.V1642	ENST00000262367.5	37	c.4926	CCDS10509.1	16																																																																																			CREBBP	-	NULL	ENSG00000005339		0.632	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2		0	14	0	G	NM_004380		3781439	-1			no_errors	ENST00000262367	ensembl	human	known	74_37	silent	30.00	14	6	SNP	0.665	A	A	3781439	G	A	3781439	2	1	114	1	0	0	0	0	0	0	0	1	3868	1277	45	3		3	CREBBP	16	3781439	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	2519705	3781439	86573314	109	30713											
ACSM1	116285	genome.wustl.edu	37	chr16	20702457	20702457	+	Silent	SNP	G	G	A	0	0	1	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	gaaggggcagggtggatgttGtggaaggatttgtggatgcc	8	10	20	3	0	0	0	0	0	0	0	0	5	0	4	1	7	1	2	1	7	2	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:20702457G>A	ENST00000307493.4	-	1	121	c.54C>T	c.(52-54)caC>caT	p.H18H	ACSM1_ENST00000520010.1_Silent_p.H18H|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	18					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGTGGATGTTGTGGAAGGATT	0.512																																																	0													134	140	138					16																	20702457		2201	4300	6501	SO:0001819	synonymous_variant	0			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"Acyl-CoA synthetase family"	18049	protein-coding gene	gene with protein product		614357	"butyryl Coenzyme A synthetase 1"	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.54C>T	16.37:g.20702457G>A			Q08AH2|Q96A20	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.H18	ENST00000307493.4	37	c.54	CCDS10587.1	16																																																																																			ACSM1	-	NULL	ENSG00000166743		0.512	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM1	HGNC	protein_coding	OTTHUMT00000254412.1	-	0	117	0	G	NM_052956		20702457	-1	tier1	-	no_errors	ENST00000307493	ensembl	human	known	74_37	silent	37.08	56	33	SNP	0.000	A	A	20702457	G	A	20702457	2	1	114	1	0	0	0	0	0	0	0	1	182	1368	48	3		3	ACSM1	16	20702457	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	16921018	20702457	69652296	110	30714											
SULT1A2	6799	genome.wustl.edu	37	chr16	28603714	28603714	+	Silent	SNP	C	C	T	0	0	0	1	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	aggtccacagtctcctctggCagggagcgccccacaaactc	9	6	10	16	1	2	0	0	0	2	0	5	1	3	1	4	3	2	1	4	3	1	0			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:28603714C>T	ENST00000395630.1	-	7	995	c.645G>A	c.(643-645)ctG>ctA	p.L215L	SULT1A2_ENST00000335715.4_Silent_p.L215L|SULT1A2_ENST00000533150.1_Silent_p.L182L	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	215					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						TCTCCTCTGGCAGGGAGCGCC	0.547																																																	0													141	126	131					16																	28603714		2197	4300	6497	SO:0001819	synonymous_variant	0			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.645G>A	16.37:g.28603714C>T			A9QY25|P78393|Q14CJ7	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L215	ENST00000395630.1	37	c.645	CCDS10636.1	16																																																																																			SULT1A2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000197165		0.547	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A2	HGNC	protein_coding	OTTHUMT00000109415.2		0	126	0	C	NM_001054		28603714	-1			no_errors	ENST00000335715	ensembl	human	known	74_37	silent	7.84	94	8	SNP	1.000	T	T	28603714	C	T	28603714	2	4	114	1	0	0	0	0	0	0	0	1	15420	697	25	3		3	SULT1A2	16	28603714	Silent	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	7901257	28603714	61751039	111	30715											
ABCC11	85320	genome.wustl.edu	37	chr16	48209220	48209220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggatcactgagagcttgGaccgcaagtcctccaggccg	9	6	14	12	2	1	1	1	1	0	1	3	5	3	3	4	3	1	2	4	3	1	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:48209220G>T	ENST00000394747.1	-	25	3996	c.3647C>A	c.(3646-3648)tCc>tAc	p.S1216Y	ABCC11_ENST00000394748.1_Missense_Mutation_p.S1216Y|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.S1216Y|ABCC11_ENST00000353782.5_Missense_Mutation_p.S1216Y	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1216	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGAGAGCTTGGACCGCAAGTC	0.617																																																	0													88	69	76					16																	48209220		2201	4300	6501	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3647C>A	16.37:g.48209220G>T	ENSP00000378230:p.Ser1216Tyr		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.S1216Y	ENST00000394747.1	37	c.3647	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477335	0.63849	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	4.99	2.98	0.34508	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.126361	0.51477	D	0.000087	D	0.95950	0.8681	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.988;0.99	D	0.94434	0.7652	10	0.87932	D	0	-23.128	6.9656	0.24621	0.0934:0.3394:0.5672:0.0	.	1216;1216	Q96J66-2;Q96J66	.;ABCCB_HUMAN	Y	1216	ENSP00000311326:S1216Y;ENSP00000349017:S1216Y;ENSP00000378231:S1216Y;ENSP00000378230:S1216Y	ENSP00000311326:S1216Y	S	-	2	0	ABCC11	46766721	1.000000	0.71417	0.345000	0.25642	0.981000	0.71138	3.384000	0.52478	0.486000	0.27676	0.591000	0.81541	TCC	ABCC11	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000121270		0.617	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0	38	0	G	NM_032583		48209220	-1	tier1	-	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	53.45	26	31	SNP	1.000	T	T	48209220	G	T	48209220	3	4	114	1	0	0	0	0	1	0	0	0	51	1174	41	3	521	3	ABCC11	16	48209220	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	19605506	48209220	42145533	112	30716											
GINS2	51659	genome.wustl.edu	37	chr16	85712254	85712254	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccggatttcgtctgccttCgggatgttgtctgaagcact	5	14	12	10	3	2	1	0	1	2	0	5	3	3	3	2	2	2	2	2	2	1	3	rs541558749		TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr16:85712254C>T	ENST00000253462.3	-	4	424	c.324G>A	c.(322-324)ccG>ccA	p.P108P		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	108					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						CGTCTGCCTTCGGGATGTTGT	0.517																																																	0													129	114	119					16																	85712254		2198	4300	6498	SO:0001819	synonymous_variant	0			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.324G>A	16.37:g.85712254C>T			D3DUM5|Q6IAG9	Silent	SNP	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	p.P108	ENST00000253462.3	37	c.324	CCDS10953.1	16																																																																																			GINS2	-	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	ENSG00000131153		0.517	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS2	HGNC	protein_coding	OTTHUMT00000269098.1	-	0	11	0	C	NM_016095		85712254	-1	tier1	-	no_errors	ENST00000253462	ensembl	human	known	74_37	silent	36.36	7	4	SNP	0.947	T	T	85712254	C	T	85712254	2	4	114	1	0	0	0	0	0	0	0	1	6414	871	31	1		1	GINS2	16	85712254	Silent	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	37503034	85712254	4642499	113	30717											
YBX2	51087	genome.wustl.edu	37	chr17	7193602	7193602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctggttgggaggccgggGgcctcgcacaaaccgccgtc	5	6	16	14	4	0	0	0	0	0	0	2	1	0	1	4	5	2	3	4	5	1	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:7193602G>A	ENST00000007699.5	-	5	775	c.712C>T	c.(712-714)Ccc>Tcc	p.P238S	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	238	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGAGGCCGGGGGCCTCGCACA	0.622																																																	0													93	113	107					17																	7193602		2202	4292	6494	SO:0001583	missense	0			AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.712C>T	17.37:g.7193602G>A	ENSP00000007699:p.Pro238Ser		D3DTP1|Q8N4P0	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.P238S	ENST00000007699.5	37	c.712	CCDS11098.1	17	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310755	0.60414	.	.	ENSG00000006047	ENST00000007699	T	0.24908	1.83	5.26	4.28	0.50868	.	0.396453	0.24737	N	0.036008	T	0.34077	0.0885	L	0.29908	0.895	0.39642	D	0.970339	D	0.89917	1.0	D	0.83275	0.996	T	0.02070	-1.1219	10	0.21540	T	0.41	-4.1034	11.2312	0.48914	0.089:0.0:0.911:0.0	.	238	Q9Y2T7	YBOX2_HUMAN	S	238	ENSP00000007699:P238S	ENSP00000007699:P238S	P	-	1	0	YBX2	7134326	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.430000	0.52807	2.642000	0.89623	0.561000	0.74099	CCC	YBX2	-	NULL	ENSG00000006047		0.622	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBX2	HGNC	protein_coding	OTTHUMT00000440172.2	-	0	96	0	G	NM_015982		7193602	-1	tier1	-	no_errors	ENST00000007699	ensembl	human	known	74_37	missense	25.26	71	24	SNP	1.000	A	A	7193602	G	A	7193602	3	1	114	1	0	0	0	0	1	0	0	0	17519	1232	43	3	398	3	YBX2	17	7193602	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		7193602	74001608	114	30718											
TP53	7157	genome.wustl.edu	37	chr17	7577498	7577498	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtggcaagtggctcctgaCctggagtcttccagtgtgat	6	11	15	9	0	1	2	0	2	1	0	3	3	3	3	3	4	0	2	3	4	1	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:7577498C>T	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(29)|p.0?(8)|p.E258fs*71(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCTCCTGACCTGGAGTCTT	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"	38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)											121	85	97					17																	7577498		2203	4300	6503	SO:0001630	splice_region_variant	0	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.782+1G>A	17.37:g.7577498C>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	-	e6+1	ENST00000269305.4	37	c.782+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989137	0.35131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.	TP53	-	-	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	250	0	C	NM_000546	Intron	7577498	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	73.29	82	225	SNP	1.000	T	T	7577498	C	T	7577498	5	4	114	1	0	0	0	0	0	0	1	0	16429	521	18	3	507	3	TP53	17	7577498	Splice_Site	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	383896	7577498	73617712	115	30719											
MYOCD	93649	genome.wustl.edu	37	chr17	12649386	12649386	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacctaacctggatgatctGaaggtataggatttgacatg	12	11	10	8	0	1	3	0	3	1	0	1	5	1	5	3	3	1	1	3	3	4	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:12649386G>C	ENST00000343344.4	+	9	1122	c.1122G>C	c.(1120-1122)ctG>ctC	p.L374L	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.L278L|MYOCD_ENST00000425538.1_Silent_p.L374L			Q8IZQ8	MYCD_HUMAN	myocardin	374	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGGATGATCTGAAGGTATAGG	0.403																																																	0													93	91	92					17																	12649386		2203	4300	6503	SO:0001819	synonymous_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1122G>C	17.37:g.12649386G>C			Q5UBU5|Q8N7Q1	Silent	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.L374	ENST00000343344.4	37	c.1122	CCDS11163.1	17																																																																																			MYOCD	-	pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	ENSG00000141052		0.403	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	-	0	49	0	G	NM_153604		12649386	1	tier1	-	no_errors	ENST00000425538	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.998	C	C	12649386	G	C	12649386	2	2	114	1	0	0	0	0	0	0	0	1	10125	1277	45	5		5	MYOCD	17	12649386	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	5071888	12649386	68545824	116	30720											
SLC47A2	146802	genome.wustl.edu	37	chr17	19611088	19611088	+	Missense_Mutation	SNP	A	A	T	1	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	tctccaggtgcagcttcttcAgcacaatgtagagaaggagg	11	9	12	9	0	3	1	1	0	2	1	4	3	3	2	1	3	3	4	1	3	3	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:19611088A>T	ENST00000325411.5	-	8	856	c.806T>A	c.(805-807)cTg>cAg	p.L269Q	SLC47A2_ENST00000350657.5_Missense_Mutation_p.L233Q|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	269					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CAGCTTCTTCAGCACAATGTA	0.627																																																	0													94	81	85					17																	19611088		2203	4298	6501	SO:0001583	missense	0			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.806T>A	17.37:g.19611088A>T	ENSP00000326671:p.Leu269Gln		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.L269Q	ENST00000325411.5	37	c.806	CCDS11211.1	17	.	.	.	.	.	.	.	.	.	.	A	7.073	0.568601	0.13560	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.48522	1.38;1.37;0.81	5.24	-1.34	0.09143	.	0.692555	0.14517	N	0.314709	T	0.26195	0.0639	L	0.32530	0.975	0.09310	N	1	B;B;B	0.26041	0.14;0.14;0.026	B;B;B	0.23852	0.034;0.049;0.022	T	0.12426	-1.0548	10	0.28530	T	0.3	-5.1327	0.3853	0.00401	0.3321:0.2664:0.1561:0.2454	.	233;233;269	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	Q	233;269;184;233	ENSP00000338084:L233Q;ENSP00000326671:L269Q;ENSP00000391848:L233Q	ENSP00000326671:L269Q	L	-	2	0	SLC47A2	19551680	0.001000	0.12720	0.000000	0.03702	0.105000	0.19272	0.110000	0.15437	-0.256000	0.09473	0.460000	0.39030	CTG	SLC47A2	-	tigrfam_MATE	ENSG00000180638		0.627	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	-	0	28	0	A	NM_152908		19611088	-1	tier1	-	no_errors	ENST00000325411	ensembl	human	known	74_37	missense	51.72	14	15	SNP	0.001	T	T	19611088	A	T	19611088	3	4	114	1	0	0	0	0	1	0	0	0	14693	188	7	5	1042	5	SLC47A2	17	19611088	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	6961702	19611088	61584122	117	30721											
MPO	4353	genome.wustl.edu	37	chr17	56350190	56350190	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgacctgctcaaacaatcGctcccggatctcatccactg	10	9	6	16	2	2	1	2	1	1	0	6	2	4	2	3	1	2	2	3	1	2	0			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:56350190G>T	ENST00000225275.3	-	10	1887	c.1711C>A	c.(1711-1713)Cga>Aga	p.R571R	MPO_ENST00000340482.3_Silent_p.R603R|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	571					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TCAAACAATCGCTCCCGGATC	0.617																																																	0													133	130	131					17																	56350190		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1711C>A	17.37:g.56350190G>T			A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R603	ENST00000225275.3	37	c.1807	CCDS11604.1	17																																																																																			MPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000005381		0.617	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	-	0	63	0	G			56350190	-1	tier1	-	no_errors	ENST00000340482	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.231	T	T	56350190	G	T	56350190	2	4	114	1	0	0	0	0	0	0	0	1	9770	1095	38	2		2	MPO	17	56350190	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	36739102	56350190	24845020	118	30722											
CACNG5	27091	genome.wustl.edu	37	chr17	64876781	64876781	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccccaccggacgatactgGcctttgtctctggcatcttc	5	12	9	15	2	2	0	0	0	2	0	5	2	3	1	4	3	1	1	4	3	1	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:64876781G>C	ENST00000533854.1	+	4	628	c.391G>C	c.(391-393)Gcc>Ccc	p.A131P	CACNG5_ENST00000307139.3_Missense_Mutation_p.A131P|CACNG5_ENST00000169565.3_Missense_Mutation_p.A131P			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	131					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GACGATACTGGCCTTTGTCTC	0.448																																																	0													256	223	234					17																	64876781		2203	4300	6503	SO:0001583	missense	0			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.391G>C	17.37:g.64876781G>C	ENSP00000436836:p.Ala131Pro		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.A131P	ENST00000533854.1	37	c.391	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838716	0.71373	.	.	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.88586	-2.4;-2.4;-2.4	3.76	3.76	0.43208	.	0.145669	0.45126	D	0.000383	D	0.92945	0.7755	M	0.69823	2.125	0.58432	D	0.999999	D	0.69078	0.997	D	0.68621	0.959	D	0.92277	0.5830	10	0.35671	T	0.21	-29.8538	15.437	0.75155	0.0:0.0:1.0:0.0	.	131	Q9UF02	CCG5_HUMAN	P	131	ENSP00000436836:A131P;ENSP00000303092:A131P;ENSP00000169565:A131P	ENSP00000169565:A131P	A	+	1	0	CACNG5	62307243	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.351000	0.97073	2.019000	0.59389	0.591000	0.81541	GCC	CACNG5	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000075429		0.448	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	-	0	63	0	G	NM_014404, NM_145811		64876781	1	tier1	-	no_errors	ENST00000169565	ensembl	human	known	74_37	missense	23.88	51	16	SNP	1.000	C	C	64876781	G	C	64876781	3	2	114	1	0	0	0	0	1	0	0	0	2567	1203	42	5	401	5	CACNG5	17	64876781	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	8526591	64876781	16318429	119	30723											
AATK	9625	genome.wustl.edu	37	chr17	79094681	79094681	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctctggcccgggggctcGgtccccgccgcacttcttct	2	9	12	18	4	3	0	0	0	3	0	5	0	4	0	4	4	1	3	4	4	0	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr17:79094681G>A	ENST00000326724.4	-	11	3079	c.3055C>T	c.(3055-3057)Cga>Tga	p.R1019*	AATK_ENST00000417379.1_Nonsense_Mutation_p.R916*	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1019					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)			CCGGGGGCTCGGTCCCCGCCG	0.672																																																	0													9	11	10					17																	79094681		1856	4075	5931	SO:0001587	stop_gained	0			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.3055C>T	17.37:g.79094681G>A	ENSP00000324196:p.Arg1019*		O75136|Q6ZN31|Q86X28	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1019*	ENST00000326724.4	37	c.3055	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.969256	0.97971	.	.	ENSG00000181409	ENST00000326724	.	.	.	4.65	-2.51	0.06365	.	5.873580	0.00447	N	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	1.9235	0.03312	0.335:0.1777:0.3738:0.1135	.	.	.	.	X	1019	.	ENSP00000324196:R1019X	R	-	1	2	AATK	76709276	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.457000	0.06745	0.076000	0.16826	0.462000	0.41574	CGA	AATK	-	NULL	ENSG00000181409		0.672	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	-	0	41	0	G	NM_004920		79094681	-1	tier1	-	no_errors	ENST00000326724	ensembl	human	known	74_37	nonsense	57.14	18	24	SNP	0.000	A	A	79094681	G	A	79094681	4	1	114	1	0	0	0	0	0	1	0	0	26	1124	39	1	1085	1	AATK	17	79094681	Nonsense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	14217900	79094681	2100529	120	30724											
L3MBTL4	91133	genome.wustl.edu	37	chr18	6311610	6311610	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattaagcttccttttcctGttgggctgtttcattgccac	6	18	7	10	0	1	0	1	0	0	0	3	0	3	0	3	1	2	4	3	1	2	8			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr18:6311610G>A	ENST00000284898.6	-	3	215	c.15C>T	c.(13-15)aaC>aaT	p.N5N	L3MBTL4_ENST00000317931.7_Silent_p.N5N|L3MBTL4_ENST00000400105.2_Silent_p.N5N|L3MBTL4_ENST00000400104.3_Silent_p.N5N	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	5					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCCTTTTCCTGTTGGGCTGTT	0.502																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													246	216	226					18																	6311610		2203	4300	6503	SO:0001819	synonymous_variant	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.15C>T	18.37:g.6311610G>A			A8MTL8|Q8IXS3	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.N5	ENST00000284898.6	37	c.15	CCDS11839.2	18																																																																																			L3MBTL4	-	NULL	ENSG00000154655		0.502	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0	59	0	G	NM_173464		6311610	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	silent	31.15	42	19	SNP	0.952	A	A	6311610	G	A	6311610	2	1	114	1	0	0	0	0	0	0	0	1	8622	1368	48	3		3	L3MBTL4	18	6311610	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		6311610	71765638	121	30725											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14778005	14778005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ttatctctaagagtgctgcaCagaattatacgtgtttacct	11	15	7	8	1	1	2	0	0	1	2	2	2	1	2	1	0	4	3	1	0	6	6			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr18:14778005C>G	ENST00000358984.4	+	10	1531	c.1351C>G	c.(1351-1353)Cag>Gag	p.Q451E	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.Q451E|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	451										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAGTGCTGCACAGAATTATAC	0.289																																																	0													109	96	100					18																	14778005		692	1591	2283	SO:0001583	missense	0			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.1351C>G	18.37:g.14778005C>G	ENSP00000351875:p.Gln451Glu		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q451E	ENST00000358984.4	37	c.1351	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	0.273	-0.991268	0.02162	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.31769	3.39;1.48	1.01	-0.0246	0.13938	.	.	.	.	.	T	0.11239	0.0274	N	0.08118	0	0.09310	N	1	B	0.30584	0.286	B	0.25506	0.061	T	0.29912	-0.9996	9	0.15066	T	0.55	.	4.1574	0.10266	0.4004:0.5996:0.0:0.0	.	451	F8WAG3	.	E	451	ENSP00000351875:Q451E;ENSP00000399031:Q451E	ENSP00000351875:Q451E	Q	+	1	0	ANKRD30B	14768005	0.012000	0.17670	0.005000	0.12908	0.008000	0.06430	-0.903000	0.04084	-0.001000	0.14495	0.375000	0.23000	CAG	ANKRD30B	-	NULL	ENSG00000180777		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	17	0	C	NM_001145029		14778005	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	missense	54.55	10	12	SNP	0.006	G	G	14778005	C	G	14778005	3	3	114	1	0	0	0	0	1	0	0	0	659	479	17	5	1389	5	ANKRD30B	18	14778005	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	8466395	14778005	63299243	122	30726											
DSC3	1825	genome.wustl.edu	37	chr18	28588320	28588320	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctaagttttctttaatccGcacatattgggctgcaggag	9	14	10	8	1	1	0	0	0	1	0	2	1	2	1	1	2	2	5	1	2	3	7			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr18:28588320G>T	ENST00000360428.4	-	10	1515	c.1435C>A	c.(1435-1437)Cgg>Agg	p.R479R	DSC3_ENST00000434452.1_Silent_p.R479R	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	479	Cadherin 4. {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)			TCTTTAATCCGCACATATTGG	0.438																																																	0													97	87	91					18																	28588320		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1435C>A	18.37:g.28588320G>T			A6NN35|Q14200|Q9HAZ9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.R479	ENST00000360428.4	37	c.1435	CCDS32810.1	18																																																																																			DSC3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000134762		0.438	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	HGNC	protein_coding	OTTHUMT00000447384.1		0	53	0	G	NM_001941, NM_024423		28588320	-1			no_errors	ENST00000360428	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.233	T	T	28588320	G	T	28588320	2	4	114	1	0	0	0	0	0	0	0	1	4781	1086	38	2		2	DSC3	18	28588320	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	13810315	28588320	49488928	123	30727											
MYO5B	4645	genome.wustl.edu	37	chr18	47431143	47431143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgggccctctgcatgcGgtaatgtttctggagcacca	6	10	13	12	2	2	0	0	0	2	0	2	1	2	1	2	4	3	4	2	4	1	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr18:47431143G>A	ENST00000285039.7	-	20	2769	c.2470C>T	c.(2470-2472)Cgc>Tgc	p.R824C	MYO5B_ENST00000324581.6_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	824	Arg-rich.|IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)		CTCTGCATGCGGTAATGTTTC	0.612																																																	0													41	47	45					18																	47431143		1987	4152	6139	SO:0001583	missense	0			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.2470C>T	18.37:g.47431143G>A	ENSP00000285039:p.Arg824Cys		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R824C	ENST00000285039.7	37	c.2470	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083419	0.76642	.	.	ENSG00000167306	ENST00000285039	T	0.74421	-0.84	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95713	0.8759	10	0.87932	D	0	.	18.7212	0.91694	0.0:0.0:1.0:0.0	.	824	Q9ULV0	MYO5B_HUMAN	C	824	ENSP00000285039:R824C	ENSP00000285039:R824C	R	-	1	0	MYO5B	45685141	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	6.125000	0.71627	2.513000	0.84729	0.655000	0.94253	CGC	MYO5B	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000167306		0.612	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	-	0	95	0	G			47431143	-1	tier1	-	no_errors	ENST00000285039	ensembl	human	known	74_37	missense	28.57	75	30	SNP	1.000	A	A	47431143	G	A	47431143	3	1	114	1	0	0	0	0	1	0	0	0	10117	1116	39	1	3160	1	MYO5B	18	47431143	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	18842823	47431143	30646105	124	30728											
ZADH2	284273	genome.wustl.edu	37	chr18	72914034	72914035	+	Missense_Mutation	DNP	GC	GC	AA																															aggctgatgtatgcggtggtGccacttaccagcagggtaag																										TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr18:72914034_72914035GC>AA	ENST00000322342.3	-	2	759_760	c.470_471GC>TT	c.(469-471)gGC>gTT	p.G157V	ZADH2_ENST00000537114.2_Missense_Mutation_p.G34V	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	157						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		ATGCGGTGGTGCCACTTACCAG	0.545																																																	0																																										SO:0001583	missense	0			BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.470_471delinsAA	18.37:g.72914034_72914035delinsAA	ENSP00000323678:p.Gly157Val		A8KA15|B4DZ91	Silent|Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.G157|p.G157V	ENST00000322342.3	37	c.471|c.470	CCDS12008.1	18																																																																																			ZADH2	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000180011		0.545	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZADH2	HGNC	protein_coding	OTTHUMT00000256332.1	-	0	16	0	G|C	NM_175907		72914034|72914035	-1	tier1	-	no_errors	ENST00000322342	ensembl	human	known	74_37	silent|missense	31.58	13	6	SNP	1.000	A	AA	72914035	GC	AA	72914034	3	1	114	1	0	0	0	0	1	0	0	0	17560	1306	46	3	666	3	ZADH2	18	72914034	Missense_Mutation	DNP	GC	TCGA-LN-A4A4-01A-11D-A27G-09	25482891	72914034	5163214	125	30729											
CNN2	1265	genome.wustl.edu	37	chr19	1036246	1036246	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgcgtcatcgggctgcagGtgggcgacagctcccccagc	6	6	15	14	3	1	0	1	0	0	0	3	1	2	0	2	3	4	3	2	3	0	0			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:1036246G>A	ENST00000263097.4	+	5	870		c.e5+1		CNN2_ENST00000565096.2_Splice_Site|CNN2_ENST00000562958.2_Splice_Site|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000348419.3_Intron|CNN2_ENST00000606983.1_Intron	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2						actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGCTGCAGGTGGGCGACAG	0.657																																																	0													38	34	35					19																	1036246		2203	4300	6503	SO:0001630	splice_region_variant	0			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.507+1G>A	19.37:g.1036246G>A			A5D8U8|A6NFI4|D6W5X9|Q92578	Splice_Site	SNP	-	e5+1	ENST00000263097.4	37	c.507+1	CCDS12053.1	19	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884135	0.51908	.	.	ENSG00000064666	ENST00000263097;ENST00000442531	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8648	0.70406	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNN2	987246	1.000000	0.71417	0.995000	0.50966	0.475000	0.33008	9.024000	0.93689	2.101000	0.63845	0.555000	0.69702	.	CNN2	-	-	ENSG00000064666		0.657	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN2	HGNC	protein_coding	OTTHUMT00000420293.3	-	0	49	0	G	NM_004368	Intron	1036246	1	tier1	-	no_errors	ENST00000263097	ensembl	human	known	74_37	splice_site	13.51	32	5	SNP	1.000	A	A	1036246	G	A	1036246	5	1	114	1	0	0	0	0	0	0	1	0	3617	1275	44	3	526	3	CNN2	19	1036246	Splice_Site	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		1036246	58092737	126	30730											
SBNO2	22904	genome.wustl.edu	37	chr19	1120003	1120003	+	Missense_Mutation	SNP	T	T	G	0	1	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	agccggcattcttggctttgTgacactcgtcgaacacgatc	8	11	10	12	4	1	1	0	1	1	0	4	3	1	1	1	2	2	2	1	2	1	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:1120003T>G	ENST00000361757.3	-	12	1406	c.1169A>C	c.(1168-1170)cAc>cCc	p.H390P	SBNO2_ENST00000587024.1_Missense_Mutation_p.H390P|SBNO2_ENST00000438103.2_Missense_Mutation_p.H333P	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	390					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)		CTTGGCTTTGTGACACTCGTC	0.617																																																	0													51	53	52					19																	1120003		1981	4014	5995	SO:0001583	missense	0			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.1169A>C	19.37:g.1120003T>G	ENSP00000354733:p.His390Pro		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.H390P	ENST00000361757.3	37	c.1169	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	T	8.418	0.845782	0.16963	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	D;D	0.98313	-4.86;-4.86	3.91	2.89	0.33648	.	0.000000	0.85682	D	0.000000	D	0.97579	0.9207	M	0.84511	2.7	0.58432	D	0.999996	B;B;B;B	0.30526	0.034;0.283;0.019;0.027	B;B;B;B	0.37346	0.034;0.247;0.023;0.02	D	0.96353	0.9260	10	0.87932	D	0	-50.3606	8.4932	0.33112	0.0:0.0972:0.0:0.9028	.	333;390;390;333	B4DL53;B4DV91;Q9Y2G9;Q9Y2G9-3	.;.;SBNO2_HUMAN;.	P	390;333;414	ENSP00000354733:H390P;ENSP00000400762:H333P	ENSP00000250872:H414P	H	-	2	0	SBNO2	1071003	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	7.738000	0.84966	0.644000	0.30656	-0.421000	0.06004	CAC	SBNO2	-	superfamily_P-loop_NTPase	ENSG00000064932		0.617	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	-	0	35	0	T	NM_014963		1120003	-1	tier1	-	no_errors	ENST00000361757	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	G	G	1120003	T	G	1120003	3	3	114	1	0	0	0	0	1	0	0	0	13908	1696	59	4	3015	4	SBNO2	19	1120003	Missense_Mutation	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	83757	1120003	58008980	127	30731											
EEF2	1938	genome.wustl.edu	37	chr19	3982327	3982327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccctcccccttggcggcGaacttggccacatacatctc	6	9	9	17	2	1	0	0	0	1	0	3	1	2	0	4	4	2	0	4	4	2	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:3982327G>A	ENST00000309311.6	-	5	796	c.708C>T	c.(706-708)ttC>ttT	p.F236F	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	236	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGGCGGCGAACTTGGCCA	0.622																																					Colon(165;1804 1908 4071 6587 18799)												0													84	80	82					19																	3982327		2203	4300	6503	SO:0001819	synonymous_variant	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.708C>T	19.37:g.3982327G>A			B2RMP5|D6W618|Q58J86	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.F236	ENST00000309311.6	37	c.708	CCDS12117.1	19																																																																																			EEF2	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000167658		0.622	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2		0	45	0	G	NM_001961		3982327	-1			no_errors	ENST00000309311	ensembl	human	known	74_37	silent	11.11	24	3	SNP	1.000	A	A	3982327	G	A	3982327	2	1	114	1	0	0	0	0	0	0	0	1	4943	1049	37	1		1	EEF2	19	3982327	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	2862324	3982327	55146656	128	30732											
FUT5	2527	genome.wustl.edu	37	chr19	5867206	5867206	+	Silent	SNP	G	G	A	0	0	1	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	cagccgtagggcgtgaagatGtcggagtcgctgcggtagga	8	7	18	8	5	0	2	0	1	0	1	2	4	0	4	1	4	2	3	1	4	3	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:5867206G>A	ENST00000588525.1	-	2	618	c.531C>T	c.(529-531)gaC>gaT	p.D177D	FUT5_ENST00000252675.5_Silent_p.D177D	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	177					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						GCGTGAAGATGTCGGAGTCGC	0.652																																																	0													36	31	33					19																	5867206		2201	4292	6493	SO:0001819	synonymous_variant	0				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.531C>T	19.37:g.5867206G>A			A8K4X2	Silent	SNP	pfam_Glyco_trans_10	p.D177	ENST00000588525.1	37	c.531	CCDS12154.1	19																																																																																			FUT5	-	pfam_Glyco_trans_10	ENSG00000130383		0.652	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT5	HGNC	protein_coding	OTTHUMT00000452213.1	-	0	42	0	G	NM_002034		5867206	-1	tier1	-	no_errors	ENST00000252675	ensembl	human	known	74_37	silent	17.95	32	7	SNP	0.996	A	A	5867206	G	A	5867206	2	1	114	1	0	0	0	0	0	0	0	1	6131	1368	48	3		3	FUT5	19	5867206	Silent	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	1884879	5867206	53261777	129	30733											
PIK3R2	5296	genome.wustl.edu	37	chr19	18273104	18273104	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgcaggatgctgagtggtacTggggggacatttcaaggtag	9	10	17	5	0	1	1	1	1	0	0	1	3	1	3	0	6	3	4	0	6	3	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:18273104T>C	ENST00000593731.1	+	8	1554	c.994T>C	c.(994-996)Tgg>Cgg	p.W332R	PIK3R2_ENST00000222254.8_Missense_Mutation_p.W332R			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	332	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.D334fs*8(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	TGAGTGGTACTGGGGGGACAT	0.652																																																	1	Insertion - Frameshift(1)	large_intestine(1)											19	18	18					19																	18273104		2200	4299	6499	SO:0001583	missense	0				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.994T>C	19.37:g.18273104T>C	ENSP00000471914:p.Trp332Arg		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.W332R	ENST00000593731.1	37	c.994	CCDS12371.1	19	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015233	0.75161	.	.	ENSG00000105647	ENST00000222254	T	0.63580	-0.05	4.43	4.43	0.53597	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84463	0.0595	10	0.87932	D	0	-23.0988	13.1711	0.59599	0.0:0.0:0.0:1.0	.	332	O00459	P85B_HUMAN	R	332	ENSP00000222254:W332R	ENSP00000222254:W332R	W	+	1	0	PIK3R2	18134104	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.843000	0.86859	1.787000	0.52448	0.402000	0.26972	TGG	PIK3R2	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85	ENSG00000105647		0.652	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2		0	26	0	T	NM_005027		18273104	1			no_errors	ENST00000222254	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	C	C	18273104	T	C	18273104	3	2	114	1	0	0	0	0	1	0	0	0	11958	1580	55	4	1020	4	PIK3R2	19	18273104	Missense_Mutation	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	12405898	18273104	40855879	130	30734											
KIAA0892	23383	genome.wustl.edu	37	chr19	19460171	19460171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgaagatgtccaatgctGaggacctgaaccggctcaca	11	8	10	12	1	2	4	1	3	1	1	3	5	3	5	3	2	2	2	3	2	3	0			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:19460171G>A	ENST00000392313.6	+	16	1653	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	MAU2_ENST00000262815.8_Missense_Mutation_p.E492K	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	492					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GTCCAATGCTGAGGACCTGAA	0.602																																																	0													186	179	182					19																	19460171		2203	4300	6503	SO:0001583	missense	0			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1474G>A	19.37:g.19460171G>A	ENSP00000376127:p.Glu492Lys		Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.E492K	ENST00000392313.6	37	c.1474	CCDS32969.2	19	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883379	0.91740	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.13	5.13	0.70059	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	M	0.78637	2.42	0.80722	D	1	D;P;D	0.89917	0.974;0.927;1.0	D;P;D	0.85130	0.953;0.801;0.997	T	0.76318	-0.3003	9	0.25751	T	0.34	.	17.1521	0.86781	0.0:0.0:1.0:0.0	.	68;97;492	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	K	492	.	ENSP00000262815:E492K	E	+	1	0	MAU2	19321171	1.000000	0.71417	0.916000	0.36221	0.861000	0.49209	9.277000	0.95755	2.406000	0.81754	0.561000	0.74099	GAG	MAU2	-	pfam_Cohesin_loading_factor,smart_TPR_repeat	ENSG00000129933		0.602	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	-	0	89	0	G	NM_015329		19460171	1	tier1	-	no_errors	ENST00000262815	ensembl	human	known	74_37	missense	32.91	53	26	SNP	0.998	A	A	19460171	G	A	19460171	3	1	114	1	0	0	0	0	1	0	0	0	8223	1291	45	3	1536	3	KIAA0892	19	19460171	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	1187067	19460171	39668812	131	30735											
ZNF536	9745	genome.wustl.edu	37	chr19	31039123	31039123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatcaggggttctctcctCtggagatcactcggggcagg	7	9	14	11	1	4	1	2	0	2	1	7	3	5	1	1	6	0	2	1	6	0	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:31039123C>G	ENST00000355537.3	+	4	2744	c.2597C>G	c.(2596-2598)tCt>tGt	p.S866C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	866					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)					GTTCTCTCCTCTGGAGATCAC	0.587																																																	0													65	70	69					19																	31039123		2203	4300	6503	SO:0001583	missense	0				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.2597C>G	19.37:g.31039123C>G	ENSP00000347730:p.Ser866Cys		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S866C	ENST00000355537.3	37	c.2597	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	11.02	1.517322	0.27123	.	.	ENSG00000198597	ENST00000355537	T	0.09630	2.96	5.71	5.71	0.89125	.	0.106346	0.64402	D	0.000003	T	0.22399	0.0540	L	0.29908	0.895	0.48185	D	0.999609	D;D	0.76494	0.999;0.999	P;P	0.61328	0.887;0.887	T	0.00395	-1.1766	10	0.62326	D	0.03	-19.5026	19.8413	0.96690	0.0:1.0:0.0:0.0	.	866;866	A7E228;O15090	.;ZN536_HUMAN	C	866	ENSP00000347730:S866C	ENSP00000347730:S866C	S	+	2	0	ZNF536	35730963	0.907000	0.30839	0.081000	0.20488	0.019000	0.09904	7.467000	0.80930	2.705000	0.92388	0.579000	0.79373	TCT	ZNF536	-	NULL	ENSG00000198597		0.587	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0	34	0	C	NM_014717		31039123	1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.947	G	G	31039123	C	G	31039123	3	3	114	1	0	0	0	0	1	0	0	0	18022	913	32	5	2607	5	ZNF536	19	31039123	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	11578952	31039123	28089860	132	30736											
MLL4	9757	genome.wustl.edu	37	chr19	36221688	36221688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattctggagtatcggccatGggggccgagggaagagccag	10	6	17	8	2	1	1	0	0	1	1	2	4	1	3	3	5	1	1	3	5	3	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:36221688G>T	ENST00000222270.7	+	26	5357	c.5357G>T	c.(5356-5358)tGg>tTg	p.W1786L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.W1786L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1786					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)										TATCGGCCATGGGGGCCGAGG	0.617																																																	0													41	48	46					19																	36221688		2052	4188	6240	SO:0001583	missense	0			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.5357G>T	19.37:g.36221688G>T	ENSP00000222270:p.Trp1786Leu		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.W1786L	ENST00000222270.7	37	c.5357	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	6.831	0.522550	0.13066	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82526	-1.62;-1.62	5.26	5.26	0.73747	.	0.174818	0.28098	N	0.016608	T	0.71651	0.3365	L	0.40543	1.245	0.31156	N	0.704929	B	0.29716	0.255	B	0.24394	0.053	T	0.65944	-0.6045	10	0.12766	T	0.61	.	9.7401	0.40413	0.0912:0.0:0.9088:0.0	.	1786	Q9UMN6	MLL4_HUMAN	L	1786	ENSP00000222270:W1786L;ENSP00000398837:W1786L	ENSP00000222270:W1786L	W	+	2	0	AD000671.1	40913528	1.000000	0.71417	0.997000	0.53966	0.199000	0.23934	2.267000	0.43329	2.735000	0.93741	0.655000	0.94253	TGG	KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding			0	50	0	G	NM_014727		36221688	1			no_errors	ENST00000222270	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.864	T	T	36221688	G	T	36221688	3	4	114	1	0	0	0	0	1	0	0	0	9661	1357	47	3	5459	3	MLL4	19	36221688	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	5182565	36221688	22907295	133	30737											
ZNF540	163255	genome.wustl.edu	37	chr19	38102492	38102492	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtttatccaaagagagtaTaatagaaaaaagtaaaactc	21	9	6	5	0	0	2	0	0	0	2	2	3	1	2	1	0	1	3	1	0	10	6			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:38102492T>C	ENST00000592533.1	+	5	643	c.311T>C	c.(310-312)aTa>aCa	p.I104T	ZNF540_ENST00000586792.1_Nonstop_Mutation_p.*30Q|ZNF540_ENST00000343599.5_Missense_Mutation_p.I104T|ZNF540_ENST00000589117.1_Missense_Mutation_p.I72T|ZNF540_ENST00000316433.4_Missense_Mutation_p.I104T	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	104					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGAGAGTATAATAGAAAAA	0.333																																																	0													84	95	91					19																	38102492		2201	4298	6499	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.311T>C	19.37:g.38102492T>C	ENSP00000466274:p.Ile104Thr		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I104T	ENST00000592533.1	37	c.311	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	T	1.381	-0.583337	0.03827	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.09538	2.97	2.04	-3.17	0.05202	.	.	.	.	.	T	0.07052	0.0179	L	0.43152	1.355	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.04013	0.001;0.0	T	0.41716	-0.9493	9	0.21540	T	0.41	.	2.8703	0.05615	0.4214:0.1378:0.0:0.4407	.	72;104	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	T	104;72	ENSP00000324598:I104T	ENSP00000324598:I104T	I	+	2	0	ZNF540	42794332	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-0.388000	0.07352	-1.172000	0.02762	-0.877000	0.02976	ATA	ZNF540	-	NULL	ENSG00000171817		0.333	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	-	0	27	0	T	NM_152606		38102492	1	tier1	-	no_errors	ENST00000316433	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.088	C	C	38102492	T	C	38102492	3	2	114	1	0	0	0	0	1	0	0	0	18023	1406	49	4	325	4	ZNF540	19	38102492	Missense_Mutation	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	1880804	38102492	21026491	134	30738											
GPR4	2828	genome.wustl.edu	37	chr19	46094736	46094736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cggccacggcggtcttgacgCggcgcaggcgggcgaagcgg	5	3	20	13	9	1	1	0	1	1	0	1	2	1	1	1	7	1	1	1	7	1	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:46094736C>T	ENST00000323040.4	-	2	1333	c.389G>A	c.(388-390)cGc>cAc	p.R130H	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	130				R -> C (in Ref. 8; AAH67535). {ECO:0000305}.	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(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGTCTTGACGCGGCGCAGGCG	0.657																																					Esophageal Squamous(117;181 1612 1673 14956 42937)												0													26	33	31					19																	46094736		2191	4276	6467	SO:0001583	missense	0			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.389G>A	19.37:g.46094736C>T	ENSP00000319744:p.Arg130His		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt	p.R130H	ENST00000323040.4	37	c.389	CCDS12669.1	19	.	.	.	.	.	.	.	.	.	.	C	22.6	4.304926	0.81247	.	.	ENSG00000177464	ENST00000323040	T	0.38240	1.15	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.085779	0.45867	D	0.000330	T	0.49304	0.1549	L	0.49513	1.565	0.41621	D	0.98896	D	0.69078	0.997	P	0.62184	0.899	T	0.44682	-0.9312	10	0.46703	T	0.11	.	12.2774	0.54744	0.0:0.829:0.171:0.0	.	130	P46093	GPR4_HUMAN	H	130	ENSP00000319744:R130H	ENSP00000319744:R130H	R	-	2	0	GPR4	50786576	0.024000	0.19004	0.999000	0.59377	0.993000	0.82548	1.177000	0.31969	2.501000	0.84356	0.455000	0.32223	CGC	GPR4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph	ENSG00000177464		0.657	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR4	HGNC	protein_coding	OTTHUMT00000459603.1	-	0	25	0	C	NM_005282		46094736	-1	tier1	-	no_errors	ENST00000323040	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T	T	46094736	C	T	46094736	3	4	114	1	0	0	0	0	1	0	0	0	6720	768	27	1	703	1	GPR4	19	46094736	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	7992244	46094736	13034247	135	30739											
NLRP2	55655	genome.wustl.edu	37	chr19	55494687	55494687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtacagaagctgctttccGgagtagaaagactcaggaac	14	7	11	9	2	1	3	1	0	0	3	2	5	2	5	1	2	4	4	1	2	5	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:55494687G>A	ENST00000543010.1	+	6	1764	c.1621G>A	c.(1621-1623)Gga>Aga	p.G541R	NLRP2_ENST00000339757.7_Missense_Mutation_p.G519R|NLRP2_ENST00000537859.1_Missense_Mutation_p.G519R|NLRP2_ENST00000427260.2_Missense_Mutation_p.G518R|NLRP2_ENST00000263437.6_Missense_Mutation_p.G538R|NLRP2_ENST00000538819.1_Missense_Mutation_p.G517R|NLRP2_ENST00000448584.2_Missense_Mutation_p.G541R|NLRP2_ENST00000391721.4_Missense_Mutation_p.G517R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	541					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTGCTTTCCGGAGTAGAAAG	0.557																																																	0													88	82	84					19																	55494687		2203	4300	6503	SO:0001583	missense	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1621G>A	19.37:g.55494687G>A	ENSP00000445135:p.Gly541Arg		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.G541R	ENST00000543010.1	37	c.1621	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.457737	0.01071	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.73681	-0.74;-0.68;-0.68;-0.74;-0.68;-0.77;-0.68;-0.74	1.7	-0.507	0.11985	.	0.757041	0.10837	N	0.628659	T	0.45115	0.1326	N	0.04203	-0.255	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.001;0.002	B;B;B;B;B	0.10450	0.005;0.002;0.001;0.003;0.003	T	0.25537	-1.0129	10	0.16896	T	0.51	.	4.2937	0.10890	0.6002:0.0:0.3998:0.0	.	518;519;538;517;541	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	R	541;517;519;541;519;518;517;538	ENSP00000445135:G541R;ENSP00000375601:G517R;ENSP00000344074:G519R;ENSP00000409370:G541R;ENSP00000440601:G519R;ENSP00000402474:G518R;ENSP00000441133:G517R;ENSP00000263437:G538R	ENSP00000263437:G538R	G	+	1	0	NLRP2	60186499	0.000000	0.05858	0.011000	0.14972	0.001000	0.01503	-0.376000	0.07465	-0.209000	0.10156	-1.267000	0.01435	GGA	NLRP2	-	NULL	ENSG00000022556		0.557	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	-	0	38	0	G	NM_017852		55494687	1	tier1	-	no_errors	ENST00000448584	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.003	A	A	55494687	G	A	55494687	3	1	114	1	0	0	0	0	1	0	0	0	10516	1117	39	1	1639	1	NLRP2	19	55494687	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	9399951	55494687	3634296	136	30740											
ZNF547	284306	genome.wustl.edu	37	chr19	57889016	57889016	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gggaaagcctttctttgtaaGtctcaccttgttcgtcacca	8	14	8	11	1	3	0	2	0	2	0	5	1	3	1	3	1	1	2	3	1	2	5			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr19:57889016G>T	ENST00000282282.3	+	4	822	c.672G>T	c.(670-672)aaG>aaT	p.K224N	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCTTTGTAAGTCTCACCTTG	0.428																																																	0													102	94	97					19																	57889016		2203	4300	6503	SO:0001583	missense	0			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"Zinc fingers, C2H2-type", "-"	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.672G>T	19.37:g.57889016G>T	ENSP00000282282:p.Lys224Asn		A8K5Z9|Q96NC4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K224N	ENST00000282282.3	37	c.672	CCDS33131.1	19	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087536	0.20390	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.13778	2.56	1.87	-3.74	0.04385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	L	0.38733	1.17	0.09310	N	1	B;P;B	0.40515	0.001;0.719;0.071	B;B;B	0.30316	0.002;0.114;0.005	T	0.35847	-0.9772	9	0.07644	T	0.81	.	8.4331	0.32771	0.0:0.52:0.2181:0.2618	.	224;224;224	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	N	224	ENSP00000282282:K224N	ENSP00000282282:K224N	K	+	3	2	ZNF547	62580828	0.000000	0.05858	0.000000	0.03702	0.979000	0.70002	-10.071000	0.00008	-1.703000	0.01409	0.491000	0.48974	AAG	ZNF547	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152433		0.428	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF547	HGNC	protein_coding	OTTHUMT00000465787.1		0	63	0	G	NM_173631		57889016	1			no_errors	ENST00000282282	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	T	T	57889016	G	T	57889016	3	4	114	1	0	0	0	0	1	0	0	0	18027	1020	36	3	682	3	ZNF547	19	57889016	Missense_Mutation	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09	2394329	57889016	1239967	137	30741											
SLC23A2	9962	genome.wustl.edu	37	chr20	4848460	4848460	+	Missense_Mutation	SNP	A	A	G	1	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	gttgggactggatgaagtagAgccattcccagtaccaaata	13	9	11	8	0	0	2	0	1	0	1	1	4	1	4	3	2	2	3	3	2	5	5			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr20:4848460A>G	ENST00000379333.1	-	13	1704	c.1312T>C	c.(1312-1314)Tct>Cct	p.S438P	SLC23A2_ENST00000468355.1_5'Flank|SLC23A2_ENST00000424750.2_Missense_Mutation_p.S324P|SLC23A2_ENST00000338244.1_Missense_Mutation_p.S438P|SNORA31_ENST00000516287.1_RNA	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	438					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|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)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GATGAAGTAGAGCCATTCCCA	0.383																																																	0													106	101	103					20																	4848460		2203	4300	6503	SO:0001583	missense	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1312T>C	20.37:g.4848460A>G	ENSP00000368637:p.Ser438Pro		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.S438P	ENST00000379333.1	37	c.1312	CCDS13085.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.8|25.8	4.672155|4.672155	0.88348|0.88348	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000423430|ENST00000379333;ENST00000338244;ENST00000424750	.|T;T;T	.|0.16743	.|2.32;2.32;2.32	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42698|0.42698	0.1214|0.1214	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.997;1.0	.|D;D	.|0.81914	.|0.995;0.993	T|T	0.38329|0.38329	-0.9666|-0.9666	5|10	.|0.87932	.|D	.|0	-22.3481|-22.3481	14.7215|14.7215	0.69311|0.69311	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|324;438	.|B4DJZ1;Q9UGH3	.|.;S23A2_HUMAN	P|P	194|438;438;324	.|ENSP00000368637:S438P;ENSP00000344322:S438P;ENSP00000406601:S324P	.|ENSP00000344322:S438P	L|S	-|-	2|1	0|0	SLC23A2|SLC23A2	4796460|4796460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.825000|8.825000	0.92029|0.92029	2.223000|2.223000	0.72356|0.72356	0.477000|0.477000	0.44152|0.44152	CTC|TCT	SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.383	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1		0	22	0	A			4848460	-1			no_errors	ENST00000338244	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G	G	4848460	A	G	4848460	3	3	114	1	0	0	0	0	1	0	0	0	14508	304	11	4	660	4	SLC23A2	20	4848460	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09		4848460	58177060	138	30742											
GZF1	64412	genome.wustl.edu	37	chr20	23345474	23345474	+	Missense_Mutation	SNP	A	A	T	1	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	agtctcaggaggtggaggtgAgcagtggctcccaagttagt	9	9	16	7	0	1	1	1	1	1	0	3	3	2	3	1	5	1	3	1	5	2	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr20:23345474A>T	ENST00000338121.5	+	2	531	c.454A>T	c.(454-456)Agc>Tgc	p.S152C	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.S152C|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	152					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGTGGAGGTGAGCAGTGGCTC	0.498																																																	0													62	67	65					20																	23345474		2203	4300	6503	SO:0001583	missense	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.454A>T	20.37:g.23345474A>T	ENSP00000338290:p.Ser152Cys		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S152C	ENST00000338121.5	37	c.454	CCDS13151.1	20	.	.	.	.	.	.	.	.	.	.	A	8.888	0.953241	0.18431	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.10960	2.82;2.82	4.62	2.2	0.27929	.	0.265765	0.32533	N	0.005974	T	0.09247	0.0228	L	0.29908	0.895	0.09310	N	0.999999	D	0.55800	0.973	P	0.46975	0.533	T	0.14671	-1.0464	10	0.52906	T	0.07	.	6.4133	0.21702	0.5884:0.0:0.4116:0.0	.	152	Q9H116	GZF1_HUMAN	C	152	ENSP00000338290:S152C;ENSP00000366250:S152C	ENSP00000338290:S152C	S	+	1	0	GZF1	23293474	0.002000	0.14202	0.009000	0.14445	0.026000	0.11368	1.180000	0.32005	0.775000	0.33450	-0.417000	0.06048	AGC	GZF1	-	NULL	ENSG00000125812		0.498	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1	-	0	26	0	A	NM_022482		23345474	1	tier1	-	no_errors	ENST00000338121	ensembl	human	known	74_37	missense	42.11	11	8	SNP	0.001	T	T	23345474	A	T	23345474	3	4	114	1	0	0	0	0	1	0	0	0	6941	304	11	5	456	5	GZF1	20	23345474	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09	18497014	23345474	39680046	139	30743											
PTPRT	11122	genome.wustl.edu	37	chr20	41419951	41419951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggggccaccattcaccttcaCgtagacgttcaaggcccctg	8	8	10	15	2	3	1	3	0	0	1	3	1	3	1	5	3	0	2	5	3	2	4			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr20:41419951C>T	ENST00000373187.1	-	3	369	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	PTPRT_ENST00000373193.3_Missense_Mutation_p.V124M|PTPRT_ENST00000356100.2_Missense_Mutation_p.V124M|PTPRT_ENST00000373198.4_Missense_Mutation_p.V124M|PTPRT_ENST00000373184.1_Missense_Mutation_p.V124M|PTPRT_ENST00000373190.1_Missense_Mutation_p.V124M|PTPRT_ENST00000373201.1_Missense_Mutation_p.V124M			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	124	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.V124M(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTCACCTTCACGTAGACGTTC	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											76	79	78					20																	41419951		1966	4165	6131	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.370G>A	20.37:g.41419951C>T	ENSP00000362283:p.Val124Met		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V124M	ENST00000373187.1	37	c.370	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441403	0.83993	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02787	4.16;4.16;4.16;4.16;4.16;4.16;4.16	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.085201	0.56097	D	0.000036	T	0.16685	0.0401	M	0.79614	2.46	0.52099	D	0.999948	D;D	0.69078	0.997;0.996	D;D	0.67900	0.923;0.954	T	0.00037	-1.2252	10	0.87932	D	0	.	19.7626	0.96329	0.0:1.0:0.0:0.0	.	124;124	O14522-1;O14522	.;PTPRT_HUMAN	M	124	ENSP00000362286:V124M;ENSP00000362283:V124M;ENSP00000362289:V124M;ENSP00000348408:V124M;ENSP00000362294:V124M;ENSP00000362280:V124M;ENSP00000362297:V124M	ENSP00000348408:V124M	V	-	1	0	PTPRT	40853365	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	2.867000	0.48428	2.676000	0.91093	0.561000	0.74099	GTG	PTPRT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000196090		0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	51	0	C			41419951	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	74.47	12	35	SNP	1.000	T	T	41419951	C	T	41419951	3	4	114	1	0	0	0	0	1	0	0	0	12857	536	19	1	4132	1	PTPRT	20	41419951	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	18074477	41419951	21605569	140	30744											
DSCR3	10311	genome.wustl.edu	37	chr21	38600086	38600086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tctgaatctccgtggcgtcgCgggcatagccttctgcacac	6	10	11	14	4	3	1	0	1	3	0	5	1	3	1	2	2	2	2	2	2	2	2			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr21:38600086C>T	ENST00000309117.6	-	7	917	c.680G>A	c.(679-681)cGc>cAc	p.R227H	DSCR3_ENST00000288304.5_Missense_Mutation_p.R183H|DSCR3_ENST00000476950.1_Missense_Mutation_p.R200H|DSCR3_ENST00000399001.1_Missense_Mutation_p.R102H|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000539844.1_Missense_Mutation_p.R150H|DSCR3_ENST00000398998.1_Missense_Mutation_p.R179H|AP001432.14_ENST00000440629.1_lincRNA	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	227						nucleus (GO:0005634)		p.R227H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						CGTGGCGTCGCGGGCATAGCC	0.647																																																	1	Substitution - Missense(1)	endometrium(1)											101	84	89					21																	38600086		2203	4300	6503	SO:0001583	missense	0			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.680G>A	21.37:g.38600086C>T	ENSP00000311399:p.Arg227His		B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set	p.R227H	ENST00000309117.6	37	c.680	CCDS33553.1	21	.	.	.	.	.	.	.	.	.	.	C	35	5.530020	0.96446	.	.	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000539844;ENST00000399001;ENST00000476950;ENST00000398998	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84160	0.5411	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.991;0.993;0.973	D	0.84672	0.0712	9	0.40728	T	0.16	-17.306	18.9084	0.92472	0.0:1.0:0.0:0.0	.	102;150;200;227	A8MY26;B7Z606;B7Z6B1;O14972	.;.;.;DSCR3_HUMAN	H	227;183;150;102;200;179	.	ENSP00000288304:R183H	R	-	2	0	DSCR3	37521956	1.000000	0.71417	0.708000	0.30435	0.931000	0.56810	7.792000	0.85828	2.546000	0.85860	0.650000	0.86243	CGC	DSCR3	-	pfam_VPS26	ENSG00000157538		0.647	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR3	HGNC	protein_coding	OTTHUMT00000194807.1		0	57	0	C			38600086	-1			no_errors	ENST00000309117	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.997	T	T	38600086	C	T	38600086	3	4	114	1	0	0	0	0	1	0	0	0	4785	768	27	1	221	1	DSCR3	21	38600086	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09		38600086	9529809	141	30745											
DSCAM	1826	genome.wustl.edu	37	chr21	41648175	41648175	+	Silent	SNP	C	C	T	0	0	0	1	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	cggccatttagggcaattggCtggaactggggaaccccagc	9	7	14	11	1	0	0	0	0	0	0	0	2	0	2	3	6	3	2	3	6	4	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr21:41648175C>T	ENST00000400454.1	-	11	2682	c.2205G>A	c.(2203-2205)caG>caA	p.Q735Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	735	Ig-like C2-type 8.				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)				GGGCAATTGGCTGGAACTGGG	0.493																																					Melanoma(134;970 1778 1785 21664 32388)												0													70	69	70					21																	41648175		1961	4185	6146	SO:0001819	synonymous_variant	0			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.2205G>A	21.37:g.41648175C>T			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q735	ENST00000400454.1	37	c.2205	CCDS42929.1	21																																																																																			DSCAM	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000171587		0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0	30	0	C	NM_001389		41648175	-1	tier1	-	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	11.11	24	3	SNP	1.000	T	T	41648175	C	T	41648175	2	4	114	1	0	0	0	0	0	0	0	1	4782	796	28	3		3	DSCAM	21	41648175	Silent	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	3048089	41648175	6481720	142	30746											
PPIL2	23759	genome.wustl.edu	37	chr22	22043027	22043027	+	Missense_Mutation	SNP	A	A	T	1	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	cctttctcttccaggtggggAgtcatactgggggaagccct	6	11	13	11	0	2	0	1	0	1	0	4	2	3	2	3	5	2	0	3	5	2	3			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr22:22043027A>T	ENST00000335025.8	+	15	1119	c.1028A>T	c.(1027-1029)gAg>gTg	p.E343V	PPIL2_ENST00000398831.3_Missense_Mutation_p.E343V|PPIL2_ENST00000492445.2_Missense_Mutation_p.E343V|PPIL2_ENST00000456792.2_Missense_Mutation_p.E322V|PPIL2_ENST00000412327.1_Missense_Mutation_p.E343V|PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000406385.1_Missense_Mutation_p.E343V					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CCAGGTGGGGAGTCATACTGG	0.637																																																	0													61	61	61					22																	22043027		2203	4300	6503	SO:0001583	missense	0				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.1028A>T	22.37:g.22043027A>T	ENSP00000334553:p.Glu343Val			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_Rtf2_RING-finger,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E343V	ENST00000335025.8	37	c.1028	CCDS13793.1	22	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680860	0.68042	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000406385;ENST00000456792;ENST00000446951	T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89	4.25	4.25	0.50352	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.82323	2.585	0.80722	D	1	P;P;P	0.52842	0.956;0.93;0.916	P;B;P	0.54210	0.745;0.298;0.611	T	0.54516	-0.8282	10	0.87932	D	0	.	12.7581	0.57347	1.0:0.0:0.0:0.0	.	322;343;343	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	V	343;343;343;343;343;322;123	ENSP00000390427:E343V;ENSP00000334553:E343V;ENSP00000381812:E343V;ENSP00000445312:E343V;ENSP00000384299:E343V;ENSP00000396228:E322V;ENSP00000405214:E123V	ENSP00000334553:E343V	E	+	2	0	PPIL2	20373027	1.000000	0.71417	0.975000	0.42487	0.263000	0.26337	5.598000	0.67585	1.934000	0.56057	0.402000	0.26972	GAG	PPIL2	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000100023		0.637	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL2	HGNC	protein_coding	OTTHUMT00000075028.4	-	0	35	0	A			22043027	1	tier1	-	no_errors	ENST00000412327	ensembl	human	known	74_37	missense	16.00	41	8	SNP	1.000	T	T	22043027	A	T	22043027	3	4	114	1	0	0	0	0	1	0	0	0	12369	304	11	5	1086	5	PPIL2	22	22043027	Missense_Mutation	SNP	A	TCGA-LN-A4A4-01A-11D-A27G-09		22043027	29261539	143	30747											
TOP3B	8940	genome.wustl.edu	37	chr22	22316801	22316801	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggcaggcgcacccacCgatgccatgcttctccatga	7	7	11	16	2	1	1	0	1	1	0	2	2	1	1	5	2	2	3	5	2	0	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chr22:22316801C>T	ENST00000398793.2	-	13	1959	c.1525G>A	c.(1525-1527)Ggc>Agc	p.G509S	TOP3B_ENST00000357179.5_Splice_Site_p.G509S|TOP3B_ENST00000413067.2_Missense_Mutation_p.G238S	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	509					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GCGCACCCACCGATGCCATGC	0.647																																																	0													83	79	80					22																	22316801		2203	4300	6503	SO:0001630	splice_region_variant	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1525+1G>A	22.37:g.22316801C>T			A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.G509S	ENST00000398793.2	37	c.1525	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.767423	0.96914	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067	T;T;T	0.78816	-1.21;-1.21;-1.21	5.12	5.12	0.69794	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	H	0.98721	4.31	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	0.96248	0.9181	10	0.87932	D	0	.	18.5601	0.91097	0.0:1.0:0.0:0.0	.	54;509;509	B3KU89;O95985;O95985-2	.;TOP3B_HUMAN;.	S	509;509;238	ENSP00000349705:G509S;ENSP00000381773:G509S;ENSP00000393118:G238S	ENSP00000349705:G509S	G	-	1	0	TOP3B	20646801	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.446000	0.80609	2.368000	0.80403	0.563000	0.77884	GGC;GGC;GGT	TOP3B	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd,prints_Topo_IA	ENSG00000100038		0.647	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	-	0	71	0	C	NM_003935	Missense_Mutation	22316801	-1	tier1	-	no_errors	ENST00000357179	ensembl	human	known	74_37	missense	9.09	60	6	SNP	1.000	T	T	22316801	C	T	22316801	5	4	114	1	0	0	0	0	0	0	1	0	16416	666	23	1	1087	1	TOP3B	22	22316801	Splice_Site	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	273774	22316801	28987765	144	30748											
USP9X	8239	genome.wustl.edu	37	chrX	41057781	41057781	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccctttttcaactttttagGaattaattgatgatttcata	11	20	4	6	0	2	2	2	2	0	0	3	3	3	3	1	1	1	0	1	1	5	9			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chrX:41057781G>T	ENST00000324545.8	+	30	5014	c.4381G>T	c.(4381-4383)Gaa>Taa	p.E1461*	USP9X_ENST00000378308.2_Splice_Site_p.E1461*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1461					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						AACTTTTTAGGAATTAATTGA	0.308																																					Ovarian(172;1807 2695 35459 49286)												0													90	76	81					X																	41057781		1926	4137	6063	SO:0001630	splice_region_variant	0			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.4381-1G>T	X.37:g.41057781G>T			O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.E1461*	ENST00000324545.8	37	c.4381	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	48	14.146323	0.99781	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7832	0.88530	0.0:0.0:1.0:0.0	.	.	.	.	X	1461	.	.	E	+	1	0	USP9X	40942725	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	9.471000	0.97696	2.219000	0.72066	0.544000	0.68410	GAA	USP9X	-	NULL	ENSG00000124486		0.308	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	0	66	0	G	NM_004652	Nonsense_Mutation	41057781	1	tier1	-	no_errors	ENST00000324545	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	T	T	41057781	G	T	41057781	5	4	114	1	0	0	0	0	0	0	1	0	17139	1188	41	3	4495	3	USP9X	23	41057781	Splice_Site	SNP	G	TCGA-LN-A4A4-01A-11D-A27G-09		41057781	114212779	145	30749											
COL4A6	1288	genome.wustl.edu	37	chrX	107431880	107431880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccagtgttgggaacaccaCcgtcacaagcacagaaacct	13	6	9	13	1	1	1	1	0	0	1	2	2	2	2	4	1	3	2	4	1	3	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chrX:107431880C>T	ENST00000372216.4	-	21	1557	c.1457G>A	c.(1456-1458)gGt>gAt	p.G486D	COL4A6_ENST00000394872.2_Missense_Mutation_p.G486D|COL4A6_ENST00000545689.1_Missense_Mutation_p.G485D|COL4A6_ENST00000538570.1_Missense_Mutation_p.G485D|COL4A6_ENST00000334504.7_Missense_Mutation_p.G485D	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	486	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGAACACCACCGTCACAAGC	0.507									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													40	41	40					X																	107431880		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1457G>A	X.37:g.107431880C>T	ENSP00000361290:p.Gly486Asp		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G486D	ENST00000372216.4	37	c.1457	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226621	0.39300	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99619	-6.28;-6.28;-6.28;-4.61;-6.28	4.12	4.12	0.48240	.	0.000000	0.38605	N	0.001628	D	0.99032	0.9669	L	0.43923	1.385	0.41698	D	0.989383	D;D;P;D	0.54207	0.965;0.965;0.94;0.965	P;P;B;P	0.54401	0.643;0.751;0.44;0.643	D	0.98905	1.0778	10	0.38643	T	0.18	.	16.5704	0.84611	0.0:1.0:0.0:0.0	.	485;485;486;485	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	D	486;485;486;485;485;485	ENSP00000361290:G486D;ENSP00000334733:G485D;ENSP00000378340:G486D;ENSP00000443707:G485D;ENSP00000445236:G485D	ENSP00000334733:G485D	G	-	2	0	COL4A6	107318536	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	5.079000	0.64431	2.295000	0.77249	0.600000	0.82982	GGT	COL4A6	-	NULL	ENSG00000197565		0.507	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	-	0	28	0	C			107431880	-1	tier1	-	no_errors	ENST00000372216	ensembl	human	known	74_37	missense	50.00	10	10	SNP	1.000	T	T	107431880	C	T	107431880	3	4	114	1	0	0	0	0	1	0	0	0	3702	507	18	3	3718	3	COL4A6	23	107431880	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	66374099	107431880	47838680	146	30750											
HTATSF1	27336	genome.wustl.edu	37	chrX	135594151	135594151	+	Silent	SNP	T	T	C	0	1	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	agctttattctcagtagcgaTgatgatgacgatgatattta	12	15	9	5	2	1	4	1	4	1	0	2	6	1	4	0	0	2	2	0	0	4	7			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chrX:135594151T>C	ENST00000218364.4	+	9	2421	c.2247T>C	c.(2245-2247)gaT>gaC	p.D749D	HTATSF1_ENST00000535601.1_Silent_p.D749D	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	749	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TCAGTAGCGATGATGATGACG	0.438																																																	0													167	161	163					X																	135594151		2203	4300	6503	SO:0001819	synonymous_variant	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.2247T>C	X.37:g.135594151T>C			D3DWG9|Q59G06|Q99730	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D749	ENST00000218364.4	37	c.2247	CCDS14657.1	X																																																																																			HTATSF1	-	NULL	ENSG00000102241		0.438	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1		0	64	0	T	NM_014500		135594151	1			no_errors	ENST00000218364	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.686	C	C	135594151	T	C	135594151	2	2	114	1	0	0	0	0	0	0	0	1	7460	1461	51	4		4	HTATSF1	23	135594151	Silent	SNP	T	TCGA-LN-A4A4-01A-11D-A27G-09	28162271	135594151	19676409	147	30751											
AFF2	2334	genome.wustl.edu	37	chrX	148035142	148035142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactccccagcccccacctgCagtgcaagccagcgggggtt	7	5	11	18	1	0	0	0	0	0	0	1	0	1	0	6	2	5	3	6	2	1	1			TCGA-LN-A4A4-01A-11D-A27G-09	TCGA-LN-A4A4-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d617f90-3296-4b9a-b5c0-e717cebd3f25	50939d6d-df1d-4f3e-8857-c4d11e46ba5e	g.chrX:148035142C>T	ENST00000370460.2	+	10	1909	c.1430C>T	c.(1429-1431)gCa>gTa	p.A477V	AFF2_ENST00000286437.5_Missense_Mutation_p.A118V|AFF2_ENST00000370457.5_Missense_Mutation_p.A444V|AFF2_ENST00000342251.3_Missense_Mutation_p.A444V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	477					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)					CCCCCACCTGCAGTGCAAGCC	0.512																																																	0													78	81	80					X																	148035142		2203	4300	6503	SO:0001583	missense	0			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.1430C>T	X.37:g.148035142C>T	ENSP00000359489:p.Ala477Val		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.A477V	ENST00000370460.2	37	c.1430	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	12.58	1.982091	0.34942	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.31	1.99	0.26369	.	0.902629	0.09453	N	0.800144	T	0.47857	0.1468	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.12156	0.007;0.004;0.004;0.004;0.004;0.007	T	0.32693	-0.9897	10	0.25751	T	0.34	.	5.5372	0.17018	0.0:0.3549:0.0:0.6451	.	118;442;444;438;467;477	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	477;444;444;118	ENSP00000359489:A477V;ENSP00000359486:A444V;ENSP00000345459:A444V;ENSP00000286437:A118V	ENSP00000286437:A118V	A	+	2	0	AFF2	147842842	0.001000	0.12720	0.001000	0.08648	0.180000	0.23129	0.382000	0.20635	0.408000	0.25621	0.600000	0.82982	GCA	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.512	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0	35	0	C	NM_002025		148035142	1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.001	T	T	148035142	C	T	148035142	3	4	114	1	0	0	0	0	1	0	0	0	357	710	25	3	1523	3	AFF2	23	148035142	Missense_Mutation	SNP	C	TCGA-LN-A4A4-01A-11D-A27G-09	12440991	148035142	7235418	148	30752											
ATAD3A	55210	genome.wustl.edu	37	chr1	1458215	1458215	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcgaggctcggctggggaAgccgtccctagtgagggaga	8	6	17	10	3	0	2	0	1	0	1	3	5	1	3	2	5	1	2	2	5	2	1			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:1458215A>T	ENST00000378755.5	+	8	1080	c.986A>T	c.(985-987)aAg>aTg	p.K329M	ATAD3A_ENST00000378756.3_Missense_Mutation_p.K281M|ATAD3A_ENST00000536055.1_Missense_Mutation_p.K202M	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	329					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CGGCTGGGGAAGCCGTCCCTA	0.667																																																	0													24	33	30					1																	1458215		2195	4297	6492	SO:0001583	missense	0			AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.986A>T	1.37:g.1458215A>T	ENSP00000368030:p.Lys329Met		B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K329M	ENST00000378755.5	37	c.986	CCDS31.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.16|15.16	2.750913|2.750913	0.49257|0.49257	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000339113|ENST00000378756;ENST00000378755;ENST00000536055	.|D;D;D	.|0.95622	.|-3.51;-3.37;-3.76	5.11|5.11	2.71|2.71	0.32032|0.32032	.|ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	.|0.152328	.|0.64402	.|N	.|0.000020	D|D	0.97576|0.97576	0.9206|0.9206	M|M	0.92122|0.92122	3.275|3.275	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D	.|0.65815	.|0.995;0.995	.|D;D	.|0.71184	.|0.953;0.972	D|D	0.96136|0.96136	0.9096|0.9096	5|10	.|0.87932	.|D	.|0	.|.	7.1521|7.1521	0.25616|0.25616	0.7752:0.1471:0.0777:0.0|0.7752:0.1471:0.0777:0.0	.|.	.|281;329	.|D2K8Q1;Q9NVI7	.|.;ATD3A_HUMAN	D|M	266|281;329;202	.|ENSP00000368031:K281M;ENSP00000368030:K329M;ENSP00000439290:K202M	.|ENSP00000368030:K329M	E|K	+|+	3|2	2|0	ATAD3A|ATAD3A	1448078|1448078	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.013000|0.013000	0.08279|0.08279	4.563000|4.563000	0.60823|0.60823	0.257000|0.257000	0.21650|0.21650	0.528000|0.528000	0.53228|0.53228	GAA|AAG	ATAD3A	-	pfam_DUF3523	ENSG00000197785		0.667	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	ATAD3A	HGNC	protein_coding	OTTHUMT00000001365.1	-	0	97	0	A	NM_018188		1458215	1	tier1	-	no_errors	ENST00000378755	ensembl	human	known	74_37	missense	15.70	102	19	SNP	1.000	T	T	1458215	A	T	1458215	3	4	115	1	0	0	0	0	1	0	0	0	1074	72	3	5	1016	5	ATAD3A	1	1458215	Missense_Mutation	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09		1458215	247792406	1	30753											
PIK3CD	5293	genome.wustl.edu	37	chr1	9775790	9775790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggcgaccgcgtgaagaaGctcatcaactcacagatcag	13	5	12	11	3	4	3	4	1	0	2	4	5	4	3	1	1	2	1	1	1	3	0			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:9775790G>T	ENST00000377346.4	+	4	528	c.333G>T	c.(331-333)aaG>aaT	p.K111N	PIK3CD_ENST00000361110.2_Missense_Mutation_p.K111N|PIK3CD_ENST00000536656.1_Missense_Mutation_p.K111N|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	111					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GCGTGAAGAAGCTCATCAACT	0.672																																																	0													65	66	66					1																	9775790		2203	4299	6502	SO:0001583	missense	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.333G>T	1.37:g.9775790G>T	ENSP00000366563:p.Lys111Asn		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K111N	ENST00000377346.4	37	c.333	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494268	0.85069	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.45668	0.89;0.89;0.89	5.83	4.91	0.64330	.	0.093310	0.85682	D	0.000000	T	0.48892	0.1525	M	0.62209	1.925	0.80722	D	1	B;P;P	0.49358	0.001;0.923;0.783	B;P;B	0.48524	0.005;0.58;0.39	T	0.52909	-0.8512	10	0.62326	D	0.03	-29.6464	12.8142	0.57657	0.0764:0.0:0.9236:0.0	.	111;111;111	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	N	111	ENSP00000446444:K111N;ENSP00000366563:K111N;ENSP00000354410:K111N	ENSP00000353766:K111N	K	+	3	2	PIK3CD	9698377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.459000	0.53021	1.469000	0.48083	0.563000	0.77884	AAG	PIK3CD	-	NULL	ENSG00000171608		0.672	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	-	0	42	0	G	NM_005026		9775790	1	tier1	-	no_errors	ENST00000536656	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	9775790	G	T	9775790	3	4	115	1	0	0	0	0	1	0	0	0	11954	962	34	3	339	3	PIK3CD	1	9775790	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	8317575	9775790	239474831	2	30754											
MTOR	2475	genome.wustl.edu	37	chr1	11292543	11292543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcatgtccatgatgataaTaaaaagttcatcaacccatt	16	11	6	8	0	2	2	2	2	0	0	3	3	3	2	2	0	2	2	2	0	5	4			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:11292543T>C	ENST00000361445.4	-	16	2540	c.2464A>G	c.(2464-2466)Att>Gtt	p.I822V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	822					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)	ATGATGATAATAAAAAGTTCA	0.433																																																	0													126	122	123					1																	11292543		2203	4300	6503	SO:0001583	missense	0			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.2464A>G	1.37:g.11292543T>C	ENSP00000354558:p.Ile822Val		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.I822V	ENST00000361445.4	37	c.2464	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791344	0.50102	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.64438	-0.1	5.73	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.176324	0.50627	N	0.000105	T	0.39733	0.1089	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.23511	-1.0186	10	0.66056	D	0.02	-4.5124	7.8907	0.29675	0.0:0.0701:0.1371:0.7928	.	822	P42345	MTOR_HUMAN	V	822	ENSP00000354558:I822V	ENSP00000354558:I822V	I	-	1	0	MTOR	11215130	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.053000	0.64269	0.958000	0.37956	0.533000	0.62120	ATT	MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.433	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0	20	0	T	NM_004958		11292543	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	C	C	11292543	T	C	11292543	3	2	115	1	0	0	0	0	1	0	0	0	9992	1406	49	4	5357	4	MTOR	1	11292543	Missense_Mutation	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09	1516753	11292543	237958078	3	30755											
PTPRU	10076	genome.wustl.edu	37	chr1	29647330	29647331	+	Nonsense_Mutation	DNP	CC	CC	AA																															ccagctgaaccagtccaactCcgcctgggtgaggcctccac																										TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:29647330_29647331CC>AA	ENST00000345512.3	+	27	3980_3981	c.3851_3852CC>AA	c.(3850-3852)tCC>tAA	p.S1284*	PTPRU_ENST00000323874.8_Nonsense_Mutation_p.S1280*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.S1274*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.S1280*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.S1271*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.S1280*	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1284	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CAGTCCAACTCCGCCTGGGTGA	0.629																																																	0																																										SO:0001587	stop_gained	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	Exception_encountered	1.37:g.29647330_29647331delinsAA	ENSP00000334941:p.Ser1284*		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation|Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.S1284Y|p.S1284	ENST00000345512.3	37	c.3851|c.3852	CCDS334.1	1																																																																																			PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000060656		0.629	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	-	0	46|45	0	C			29647330|29647331	1	tier1	-	no_errors	ENST00000345512	ensembl	human	known	74_37	missense|silent	14.93|15.38	57|55	10	SNP	0.999|0.151	A	AA	29647331	CC	AA	29647330	4	1	115	1	0	0	0	0	0	1	0	0	12858	855	30	3	3979	3	PTPRU	1	29647330	Nonsense_Mutation	DNP	CC	TCGA-LN-A4A5-01A-21D-A27G-09	18354787	29647330	219603291	4	30756											
EIF2C4	192670	genome.wustl.edu	37	chr1	36290920	36290920	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttttttccttaggttgatAtggaggtgactcttccaggc	7	17	10	7	0	1	2	0	2	1	0	3	3	3	3	2	4	0	1	2	4	2	7			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:36290920A>G	ENST00000373210.3	+	4	558	c.313A>G	c.(313-315)Atg>Gtg	p.M105V		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	105					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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TTAGGTTGATATGGAGGTGAC	0.398																																																	0													186	183	184					1																	36290920		2203	4300	6503	SO:0001583	missense	0			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.313A>G	1.37:g.36290920A>G	ENSP00000362306:p.Met105Val		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.M105V	ENST00000373210.3	37	c.313	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	A	6.693	0.496581	0.12762	.	.	ENSG00000134698	ENST00000373210	T	0.08282	3.11	5.82	5.82	0.92795	Argonaute/Dicer protein, PAZ (1);	0.047822	0.85682	D	0.000000	T	0.02119	0.0066	N	0.00389	-1.56	0.41346	D	0.987332	B	0.02656	0.0	B	0.01281	0.0	T	0.41928	-0.9481	10	0.06757	T	0.87	-18.6971	11.2904	0.49247	0.864:0.0:0.0:0.136	.	105	Q9HCK5	AGO4_HUMAN	V	105	ENSP00000362306:M105V	ENSP00000362306:M105V	M	+	1	0	EIF2C4	36063507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.367000	0.44213	2.222000	0.72286	0.533000	0.62120	ATG	AGO4	-	superfamily_PAZ_dom	ENSG00000134698		0.398	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO4	HGNC	protein_coding	OTTHUMT00000012213.3	-	0	47	0	A	NM_017629		36290920	1	tier1	-	no_errors	ENST00000373210	ensembl	human	known	74_37	missense	16.33	41	8	SNP	1.000	G	G	36290920	A	G	36290920	3	3	115	1	0	0	0	0	1	0	0	0	5022	449	16	4	327	4	EIF2C4	1	36290920	Missense_Mutation	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	6643590	36290920	212959701	5	30757											
RRAGC	64121	genome.wustl.edu	37	chr1	39317319	39317319	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacacatcaattacaacatcGatcatgtcacagcaaagttc	16	9	5	11	1	3	0	3	0	0	0	5	2	3	0	0	0	3	2	0	0	4	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:39317319G>A	ENST00000373001.3	-	5	1043	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_022157.2	NP_071440.1			Ras-related GTP binding C									p.I289I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				TTACAACATCGATCATGTCAC	0.348																																																	1	Substitution - coding silent(1)	large_intestine(1)											125	118	121					1																	39317319		2203	4300	6503	SO:0001819	synonymous_variant	0			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.867C>T	1.37:g.39317319G>A				Silent	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.I289	ENST00000373001.3	37	c.867	CCDS430.1	1																																																																																			RRAGC	-	pfam_Gtr1_RagA	ENSG00000116954		0.348	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGC	HGNC	protein_coding	OTTHUMT00000001222.2		0	38	0	G	NM_022157		39317319	-1			no_errors	ENST00000373001	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	A	A	39317319	G	A	39317319	2	1	115	1	0	0	0	0	0	0	0	1	13719	1048	37	1		1	RRAGC	1	39317319	Silent	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	3026399	39317319	209933302	6	30758											
ERMAP	114625	genome.wustl.edu	37	chr1	43308661	43308661	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccttcgccctttctttGaaccttgccttcatgatgga	5	14	7	15	1	2	2	1	2	1	0	3	3	2	3	5	1	2	0	5	1	1	5			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:43308661G>T	ENST00000372517.2	+	12	1430	c.1186G>T	c.(1186-1188)Gaa>Taa	p.E396*	RP11-342M1.3_ENST00000444563.1_RNA|ERMAP_ENST00000328249.3_Nonsense_Mutation_p.E306*|ERMAP_ENST00000372514.3_Nonsense_Mutation_p.E396*|RP11-342M1.3_ENST00000414798.1_RNA|RP11-342M1.3_ENST00000416809.2_RNA|RP11-342M1.3_ENST00000425076.1_RNA|ERMAP_ENST00000487556.1_3'UTR	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	396	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCTTTCTTTGAACCTTGCCT	0.453																																																	0													137	147	144					1																	43308661		2203	4300	6503	SO:0001587	stop_gained	0			AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"Blood group antigens", "Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	15743	protein-coding gene	gene with protein product		609017	"Radin blood group", "Scianna blood group", "erythroblast membrane-associated protein", "erythroblast membrane-associated protein (RD and SC blood groups)"	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.1186G>T	1.37:g.43308661G>T	ENSP00000361595:p.Glu396*		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.E396*	ENST00000372517.2	37	c.1186	CCDS475.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.163980	0.98107	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	.	.	.	5.4	5.4	0.78164	.	0.569571	0.17056	N	0.188736	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	11.5822	0.50898	0.0:0.0:0.8223:0.1776	.	.	.	.	X	396;396;306	.	ENSP00000332439:E306X	E	+	1	0	ERMAP	43081248	0.762000	0.28451	1.000000	0.80357	0.992000	0.81027	0.319000	0.19522	2.814000	0.96858	0.655000	0.94253	GAA	ERMAP	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000164010		0.453	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMAP	HGNC	protein_coding	OTTHUMT00000020180.1		0	42	0	G	NM_018538		43308661	1			no_errors	ENST00000372514	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	0.999	T	T	43308661	G	T	43308661	4	4	115	1	0	0	0	0	0	1	0	0	5250	1291	45	3	1224	3	ERMAP	1	43308661	Nonsense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	3991342	43308661	205941960	7	30759											
PTPRF	5792	genome.wustl.edu	37	chr1	44019257	44019257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacaggagaacccaagccGcgcatcacatggatgaagaa	15	4	11	11	2	1	3	1	1	0	2	1	5	1	4	2	2	3	2	2	2	5	1			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:44019257G>A	ENST00000359947.4	+	4	526	c.186G>A	c.(184-186)ccG>ccA	p.P62P	PTPRF_ENST00000372414.3_Silent_p.P62P|PTPRF_ENST00000438120.1_Silent_p.P62P|PTPRF_ENST00000372413.3_Silent_p.P62P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	62	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACCCAAGCCGCGCATCACAT	0.592																																																	0													187	179	182					1																	44019257		2203	4300	6503	SO:0001819	synonymous_variant	0			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.186G>A	1.37:g.44019257G>A			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.P62	ENST00000359947.4	37	c.186	CCDS489.2	1																																																																																			PTPRF	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142949		0.592	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	-	0	59	0	G			44019257	1	tier1	-	no_errors	ENST00000359947	ensembl	human	known	74_37	silent	15.87	53	10	SNP	0.029	A	A	44019257	G	A	44019257	2	1	115	1	0	0	0	0	0	0	0	1	12846	1074	38	1		1	PTPRF	1	44019257	Silent	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	710596	44019257	205231364	8	30760											
RBMXL1	494115	genome.wustl.edu	37	chr1	89448692	89448692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctccacttggatgatctGaatagtcacgatcacgacca	13	9	7	12	2	3	2	2	2	1	0	4	5	4	3	3	1	1	0	3	1	3	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:89448692G>A	ENST00000321792.5	-	2	1245	c.818C>T	c.(817-819)tCa>tTa	p.S273L	RBMXL1_ENST00000399794.2_Missense_Mutation_p.S273L|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000413769.1_5'Flank	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	273	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGGATGATCTGAATAGTCACG	0.458																																																	0													218	206	210					1																	89448692		2203	4300	6503	SO:0001583	missense	0			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.818C>T	1.37:g.89448692G>A	ENSP00000318415:p.Ser273Leu			Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.S273L	ENST00000321792.5	37	c.818	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041723	0.35989	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.76709	-1.04;-1.04	1.59	0.44	0.16572	.	0.282244	0.34932	N	0.003566	T	0.48502	0.1503	L	0.58101	1.795	0.21184	N	0.999764	P	0.50710	0.938	B	0.41764	0.366	T	0.54255	-0.8321	10	0.13470	T	0.59	.	7.0199	0.24908	0.0:0.2888:0.7112:0.0	.	273	Q96E39	RBMXL_HUMAN	L	273	ENSP00000318415:S273L;ENSP00000446099:S273L	ENSP00000318415:S273L	S	-	2	0	RBMXL1	89221280	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	3.750000	0.55157	-0.037000	0.13646	0.306000	0.20318	TCA	RBMXL1	-	NULL	ENSG00000213516		0.458	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	-	0	100	0	G	NM_019610		89448692	-1	tier1	-	no_errors	ENST00000321792	ensembl	human	known	74_37	missense	18.18	81	18	SNP	0.998	A	A	89448692	G	A	89448692	3	1	115	1	0	0	0	0	1	0	0	0	13198	1294	45	3	358	3	RBMXL1	1	89448692	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	45429435	89448692	159801929	9	30761											
FLAD1	80308	genome.wustl.edu	37	chr1	154960867	154960867	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggggaaggctgggagaagcTatcattggtgccctcctctg	8	9	15	9	0	2	1	1	0	1	1	3	3	3	2	2	5	2	2	2	5	3	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:154960867T>G	ENST00000292180.3	+	2	981	c.659T>G	c.(658-660)cTa>cGa	p.L220R	FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368433.1_Missense_Mutation_p.L220R|FLAD1_ENST00000368431.3_Missense_Mutation_p.L121R|FLAD1_ENST00000368432.1_Missense_Mutation_p.L123R|FLAD1_ENST00000315144.10_Missense_Mutation_p.L123R|FLAD1_ENST00000405236.2_Missense_Mutation_p.L121R|FLAD1_ENST00000487371.1_3'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	220					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)			TGGGAGAAGCTATCATTGGTG	0.567																																																	0													79	80	80					1																	154960867		2203	4300	6503	SO:0001583	missense	0				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.659T>G	1.37:g.154960867T>G	ENSP00000292180:p.Leu220Arg		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom	p.L121R	ENST00000292180.3	37	c.362	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.824810	0.71143	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236	.	.	.	5.81	5.81	0.92471	Molybdopterin binding (4);	0.306106	0.31279	N	0.007929	T	0.75729	0.3889	M	0.81942	2.565	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.74348	0.983;0.946	T	0.79453	-0.1797	9	0.62326	D	0.03	-5.4448	15.8376	0.78811	0.0:0.0:0.0:1.0	.	220;121	Q8NFF5;Q8NFF5-4	FAD1_HUMAN;.	R	220;123;123;121;220;121	.	ENSP00000292180:L220R	L	+	2	0	FLAD1	153227491	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	5.946000	0.70234	2.225000	0.72522	0.379000	0.24179	CTA	FLAD1	-	pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom	ENSG00000160688		0.567	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	-	0	45	0	T	NM_025207		154960867	1	tier1	-	no_errors	ENST00000405236	ensembl	human	known	74_37	missense	16.36	46	9	SNP	1.000	G	G	154960867	T	G	154960867	3	3	115	1	0	0	0	0	1	0	0	0	5942	1522	53	4	740	4	FLAD1	1	154960867	Missense_Mutation	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09	65512175	154960867	94289754	10	30762											
SH2D2A	9047	genome.wustl.edu	37	chr1	156779493	156779494	+	Missense_Mutation	DNP	GC	GC	AA																															ctttctgcatcgggactgggGcttgcccctgtttgatgatt																										TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:156779493_156779494GC>AA	ENST00000368199.3	-	6	826_827	c.673_674GC>TT	c.(673-675)GCc>TTc	p.A225F	SH2D2A_ENST00000392306.2_Missense_Mutation_p.A235F|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A207F	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	225	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)	p.A225S(1)|p.A235S(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGGACTGGGGCTTGCCCCTGT	0.609																																																	2	Substitution - Missense(2)	lung(2)																																								SO:0001583	missense	0			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.673_674delinsAA	1.37:g.156779493_156779494delinsAA	ENSP00000357182:p.Ala225Phe		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.A235V|p.A235S	ENST00000368199.3	37	c.704|c.703	CCDS1159.1	1																																																																																			SH2D2A	-	NULL	ENSG00000027869		0.609	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SH2D2A	HGNC	protein_coding	OTTHUMT00000098982.1	-	0	56	0	G|C	NM_003975		156779493|156779494	-1	tier1	-	no_errors	ENST00000392306	ensembl	human	known	74_37	missense	17.50|17.72	66|65	14	SNP	0.000	A	AA	156779494	GC	AA	156779493	3	1	115	1	0	0	0	0	1	0	0	0	14277	1203	42	3	507	3	SH2D2A	1	156779493	Missense_Mutation	DNP	GC	TCGA-LN-A4A5-01A-21D-A27G-09	1818626	156779493	92471128	11	30763											
SH2D1B	117157	genome.wustl.edu	37	chr1	162367093	162367093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaagacatccacataatCgctgttactgttctttggag	11	12	9	9	1	1	1	0	0	1	1	3	2	2	2	1	2	1	4	1	2	3	4			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:162367093C>A	ENST00000367929.2	-	4	485	c.376G>T	c.(376-378)Gat>Tat	p.D126Y	SH2D1B_ENST00000359567.3_Missense_Mutation_p.D71Y	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	126					leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCACATAATCGCTGTTACTG	0.458																																																	0													95	88	90					1																	162367093		2203	4300	6503	SO:0001583	missense	0			AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"SH2 domain containing"	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.376G>T	1.37:g.162367093C>A	ENSP00000356906:p.Asp126Tyr		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.D126Y	ENST00000367929.2	37	c.376	CCDS30928.1	1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230236	0.39399	.	.	ENSG00000198574	ENST00000367929;ENST00000359567	D;D	0.84370	-1.79;-1.84	3.95	3.03	0.35002	.	1.791760	0.03771	N	0.259773	D	0.84795	0.5551	L	0.47716	1.5	0.24601	N	0.993777	D;D	0.89917	0.974;1.0	P;D	0.70487	0.626;0.969	T	0.67488	-0.5658	9	0.62326	D	0.03	-26.0368	7.6304	0.28236	0.0:0.8824:0.0:0.1176	.	71;126	O14796-2;O14796	.;SH21B_HUMAN	Y	126;71	ENSP00000356906:D126Y;ENSP00000352571:D71Y	ENSP00000352571:D71Y	D	-	1	0	SH2D1B	160633717	0.216000	0.23585	0.003000	0.11579	0.002000	0.02628	1.414000	0.34736	0.998000	0.38996	0.563000	0.77884	GAT	SH2D1B	-	NULL	ENSG00000198574		0.458	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D1B	HGNC	protein_coding	OTTHUMT00000076794.1	-	0	24	0	C	NM_053282		162367093	-1	tier1	-	no_errors	ENST00000367929	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.007	A	A	162367093	C	A	162367093	3	1	115	1	0	0	0	0	1	0	0	0	14276	884	31	2	26	2	SH2D1B	1	162367093	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	5587600	162367093	86883528	12	30764											
ASPM	259266	genome.wustl.edu	37	chr1	197070956	197070956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcatttcttgtaacttCttctttaccatcagtcttct	6	21	3	11	0	6	0	1	0	5	0	6	0	6	0	1	0	3	2	1	0	2	9	rs545567176		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:197070956C>A	ENST00000367409.4	-	18	7681	c.7425G>T	c.(7423-7425)aaG>aaT	p.K2475N	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2475	IQ 26. {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						CTTGTAACTTCTTCTTTACCA	0.378																																																	0													95	95	95					1																	197070956		2203	4298	6501	SO:0001583	missense	0			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.7425G>T	1.37:g.197070956C>A	ENSP00000356379:p.Lys2475Asn		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.K2475N	ENST00000367409.4	37	c.7425	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	c	13.50	2.254563	0.39896	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72725	-0.68	4.83	-0.257	0.12979	.	0.072712	0.56097	D	0.000028	T	0.74794	0.3763	M	0.72353	2.195	0.24537	N	0.994086	P;D	0.54397	0.952;0.966	P;P	0.62014	0.706;0.897	T	0.63717	-0.6574	10	0.38643	T	0.18	.	5.0737	0.14620	0.1505:0.236:0.0:0.6136	.	461;2475	E7EQ84;Q8IZT6	.;ASPM_HUMAN	N	2475;461	ENSP00000356379:K2475N	ENSP00000356376:K461N	K	-	3	2	ASPM	195337579	0.000000	0.05858	0.010000	0.14722	0.770000	0.43624	-0.245000	0.08890	-0.084000	0.12595	0.558000	0.71614	AAG	ASPM	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066279		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	-	0	86	0	C	NM_018136		197070956	-1	tier1	-	no_errors	ENST00000367409	ensembl	human	known	74_37	missense	13.11	106	16	SNP	0.021	A	A	197070956	C	A	197070956	3	1	115	1	0	0	0	0	1	0	0	0	1057	912	32	3	3052	3	ASPM	1	197070956	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	34703863	197070956	52179665	13	30765											
ATP2B4	493	genome.wustl.edu	37	chr1	203672839	203672839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagccaggagggaatcGacaatgaggaaaaggacaag	18	3	13	7	1	1	1	1	1	0	0	2	6	1	5	1	4	2	0	1	4	6	0	rs200430665		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:203672839G>T	ENST00000357681.5	+	8	2120	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	ATP2B4_ENST00000367218.3_Missense_Mutation_p.D333Y|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D321Y|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D333Y|ATP2B4_ENST00000341360.2_Missense_Mutation_p.D333Y	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	333					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)			GGAGGGAATCGACAATGAGGA	0.532																																																	0													108	98	101					1																	203672839		2203	4300	6503	SO:0001583	missense	0			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.997G>T	1.37:g.203672839G>T	ENSP00000350310:p.Asp333Tyr		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.D333Y	ENST00000357681.5	37	c.997	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177269	0.57692	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.93247	-3.19;-3.18;-3.19;-3.16;-3.18	6.17	5.26	0.73747	ATPase, P-type, ATPase-associated domain (1);	0.246163	0.29868	N	0.010988	D	0.95401	0.8507	L	0.54323	1.7	0.50039	D	0.999844	D;D;D	0.89917	0.999;0.984;1.0	D;P;D	0.91635	0.98;0.902;0.999	D	0.95051	0.8187	10	0.46703	T	0.11	-30.8825	14.2603	0.66080	0.0718:0.0:0.9282:0.0	.	333;333;333	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	Y	333;333;321;333;333	ENSP00000350310:D333Y;ENSP00000356187:D333Y;ENSP00000356188:D321Y;ENSP00000375816:D333Y;ENSP00000340930:D333Y	ENSP00000340930:D333Y	D	+	1	0	ATP2B4	201939462	1.000000	0.71417	0.173000	0.22940	0.223000	0.24884	9.853000	0.99521	1.620000	0.50308	0.655000	0.94253	GAC	ATP2B4	-	pfam_ATPase_P-typ_transduc_dom_A	ENSG00000058668		0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	-	0	34	0	G	NM_001001396		203672839	1	tier1	-	no_errors	ENST00000357681	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.985	T	T	203672839	G	T	203672839	3	4	115	1	0	0	0	0	1	0	0	0	1143	1058	37	2	1023	2	ATP2B4	1	203672839	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	6601883	203672839	45577782	14	30766											
WNT3A	89780	genome.wustl.edu	37	chr1	228210523	228210523	+	Missense_Mutation	SNP	A	A	T	1	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	catcaagattggcatccaggAgtgccagcaccagttccgcg	10	7	11	13	2	1	1	1	0	0	1	3	2	3	2	4	2	2	3	4	2	1	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:228210523A>T	ENST00000284523.1	+	2	305	c.227A>T	c.(226-228)gAg>gTg	p.E76V	WNT3A_ENST00000366753.2_Missense_Mutation_p.E76V	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	76					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|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 tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|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)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	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)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GGCATCCAGGAGTGCCAGCAC	0.657																																																	0													54	53	53					1																	228210523		2203	4300	6503	SO:0001583	missense	0			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.227A>T	1.37:g.228210523A>T	ENSP00000284523:p.Glu76Val		Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3	p.E76V	ENST00000284523.1	37	c.227	CCDS1564.1	1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653085	0.88056	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.80824	-1.42;-1.42	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.92318	0.5863	10	0.87932	D	0	.	13.5625	0.61797	1.0:0.0:0.0:0.0	.	76;76	P56704;Q3SY79	WNT3A_HUMAN;.	V	76	ENSP00000284523:E76V;ENSP00000355715:E76V	ENSP00000284523:E76V	E	+	2	0	WNT3A	226277146	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.992000	0.93519	1.873000	0.54277	0.478000	0.44815	GAG	WNT3A	-	pfam_Wnt,smart_Wnt	ENSG00000154342		0.657	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT3A	HGNC	protein_coding	OTTHUMT00000091648.1	-	0	31	0	A	NM_033131		228210523	1	tier1	-	no_errors	ENST00000366753	ensembl	human	known	74_37	missense	13.11	53	8	SNP	1.000	T	T	228210523	A	T	228210523	3	4	115	1	0	0	0	0	1	0	0	0	17438	304	11	5	233	5	WNT3A	1	228210523	Missense_Mutation	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	24537684	228210523	21040098	15	30767											
OPN3	23596	genome.wustl.edu	37	chr1	241767755	241767755	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggtgctcctgcccacGccagtgagtagagccagatg	9	6	15	11	1	0	4	0	1	0	3	1	5	1	4	4	2	3	2	4	2	1	1	rs12072790	byFrequency	TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:241767755G>C	ENST00000366554.2	-	2	606	c.500C>G	c.(499-501)gCg>gGg	p.A167G	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	167			A -> V (in dbSNP:rs12072790).		detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCCTGCCCACGCCAGTGAGTA	0.552																																																	0													100	88	92					1																	241767755		2203	4300	6503	SO:0001583	missense	0			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.500C>G	1.37:g.241767755G>C	ENSP00000355512:p.Ala167Gly		Q8IX08|Q9Y344	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A167G	ENST00000366554.2	37	c.500	CCDS31072.1	1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880155	0.72294	.	.	ENSG00000054277	ENST00000366554	T	0.38401	1.14	5.24	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.120339	0.56097	D	0.000033	T	0.40372	0.1114	L	0.39085	1.19	0.80722	D	1	D	0.60160	0.987	P	0.60609	0.877	T	0.22452	-1.0216	10	0.87932	D	0	.	7.144	0.25573	0.2176:0.1445:0.6379:0.0	.	167	Q9H1Y3	OPN3_HUMAN	G	167	ENSP00000355512:A167G	ENSP00000355512:A167G	A	-	2	0	OPN3	239834378	1.000000	0.71417	0.022000	0.16811	0.967000	0.64934	2.760000	0.47581	0.544000	0.28883	0.650000	0.86243	GCG	OPN3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000054277		0.552	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN3	HGNC	protein_coding	OTTHUMT00000095713.1	-	0	37	0	G	NM_014322		241767755	-1	tier1	-	no_errors	ENST00000366554	ensembl	human	known	74_37	missense	20.00	44	11	SNP	0.784	C	C	241767755	G	C	241767755	3	2	115	1	0	0	0	0	1	0	0	0	10920	1087	38	5	720	5	OPN3	1	241767755	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	13557232	241767755	7482866	16	30768											
AKT3	10000	genome.wustl.edu	37	chr1	243675719	243675719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttacttgaggtttaaaagGaggtacaagctgtaaaaaga	16	11	11	3	0	0	2	0	1	0	1	0	3	0	3	0	3	3	5	0	3	8	6			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr1:243675719G>T	ENST00000366539.1	-	13	1461	c.1261C>A	c.(1261-1263)Cct>Act	p.P421T	AKT3_ENST00000336199.5_Missense_Mutation_p.P421T|AKT3_ENST00000366540.1_Missense_Mutation_p.P421T|AKT3_ENST00000263826.5_Missense_Mutation_p.P421T			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	421	AGC-kinase C-terminal.				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)			GGTTTAAAAGGAGGTACAAGC	0.313																																																	0													75	77	76					1																	243675719		2200	4297	6497	SO:0001583	missense	0			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.1261C>A	1.37:g.243675719G>T	ENSP00000355497:p.Pro421Thr		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.P421T	ENST00000366539.1	37	c.1261	CCDS31077.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926136	0.92319	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.88	5.88	0.94601	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.053435	0.85682	D	0.000000	T	0.81484	0.4832	H	0.95504	3.68	0.80722	D	1	D;D	0.63880	0.993;0.991	P;D	0.66196	0.876;0.942	D	0.86184	0.1608	10	0.87932	D	0	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	421;421	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	T	421	ENSP00000336943:P421T;ENSP00000355498:P421T;ENSP00000355497:P421T;ENSP00000263826:P421T	ENSP00000263826:P421T	P	-	1	0	AKT3	241742342	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.778000	0.95560	0.655000	0.94253	CCT	AKT3	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C	ENSG00000117020		0.313	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT3	HGNC	protein_coding	OTTHUMT00000096479.1		0	32	0	G	NM_181690		243675719	-1			no_errors	ENST00000263826	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	T	T	243675719	G	T	243675719	3	4	115	1	0	0	0	0	1	0	0	0	481	1174	41	3	234	3	AKT3	1	243675719	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	1907964	243675719	5574902	17	30769											
SNX17	9784	genome.wustl.edu	37	chr2	27599187	27599187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtccccagatgctgcGccggcgggtggggggtactc	3	9	17	12	3	1	1	0	0	1	1	3	1	2	1	3	5	3	2	3	5	1	1			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:27599187G>T	ENST00000233575.2	+	13	1412	c.1190G>T	c.(1189-1191)cGc>cTc	p.R397L	SNX17_ENST00000537606.1_Missense_Mutation_p.R372L|SNX17_ENST00000542478.1_Missense_Mutation_p.R183L|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000543024.1_Missense_Mutation_p.R183L	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	397	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGATGCTGCGCCGGCGGGTG	0.592																																																	0													56	65	62					2																	27599187		2203	4300	6503	SO:0001583	missense	0			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1190G>T	2.37:g.27599187G>T	ENSP00000233575:p.Arg397Leu		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc	p.R397L	ENST00000233575.2	37	c.1190	CCDS1750.1	2	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296137	0.40594	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.31247	1.92;1.5;1.51;1.5	5.36	5.36	0.76844	.	0.139248	0.64402	D	0.000006	T	0.28333	0.0700	L	0.55481	1.735	0.58432	D	0.999996	B;P;B;P	0.38827	0.451;0.649;0.451;0.465	B;B;B;B	0.28991	0.097;0.097;0.045;0.095	T	0.05716	-1.0868	10	0.33141	T	0.24	-10.4977	17.8169	0.88637	0.0:0.0:1.0:0.0	.	372;385;377;397	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	L	397;183;372;183	ENSP00000233575:R397L;ENSP00000441779:R183L;ENSP00000439208:R372L;ENSP00000442567:R183L	ENSP00000233575:R397L	R	+	2	0	SNX17	27452691	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	4.008000	0.57103	2.797000	0.96272	0.561000	0.74099	CGC	SNX17	-	NULL	ENSG00000115234		0.592	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	HGNC	protein_coding	OTTHUMT00000215024.1		0	15	0	G	NM_014748		27599187	1			no_errors	ENST00000233575	ensembl	human	known	74_37	missense	15.62	27	5	SNP	1.000	T	T	27599187	G	T	27599187	3	4	115	1	0	0	0	0	1	0	0	0	14933	1087	38	2	1240	2	SNX17	2	27599187	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09		27599187	215600186	18	30770											
LRPPRC	10128	genome.wustl.edu	37	chr2	44187730	44187730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgctgcttcacttctcaatCcagcttgagaaaacatatca	12	13	5	11	0	3	1	3	1	1	1	5	2	4	1	1	0	4	3	1	0	4	5			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:44187730C>A	ENST00000260665.7	-	13	1589	c.1532G>T	c.(1531-1533)gGa>gTa	p.G511V	LRPPRC_ENST00000409946.1_Missense_Mutation_p.G511V	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	511					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)				ACTTCTCAATCCAGCTTGAGA	0.323																																																	0													158	153	155					2																	44187730		2203	4300	6503	SO:0001583	missense	0			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.1532G>T	2.37:g.44187730C>A	ENSP00000260665:p.Gly511Val		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.G511V	ENST00000260665.7	37	c.1532	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	3.718	-0.058206	0.07317	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946	T;T	0.54866	0.55;0.59	4.93	2.49	0.30216	.	0.284462	0.36893	N	0.002351	T	0.26048	0.0635	N	0.08118	0	0.80722	D	1	B;B	0.17038	0.002;0.02	B;B	0.14023	0.001;0.01	T	0.03630	-1.1018	10	0.16896	T	0.51	-23.7981	6.6429	0.22919	0.0:0.0789:0.1542:0.7669	.	411;511	F5H4J6;P42704	.;LPPRC_HUMAN	V	411;511;511	ENSP00000260665:G511V;ENSP00000386234:G511V	ENSP00000260665:G511V	G	-	2	0	LRPPRC	44041234	1.000000	0.71417	0.071000	0.20095	0.013000	0.08279	1.562000	0.36353	0.360000	0.24265	-1.377000	0.01181	GGA	LRPPRC	-	NULL	ENSG00000138095		0.323	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	-	0	55	0	C	NM_133259		44187730	-1	tier1	-	no_errors	ENST00000260665	ensembl	human	known	74_37	missense	18.06	59	13	SNP	0.885	A	A	44187730	C	A	44187730	3	1	115	1	0	0	0	0	1	0	0	0	9000	855	30	3	2756	3	LRPPRC	2	44187730	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	16588543	44187730	199011643	19	30771											
CTNNA2	1496	genome.wustl.edu	37	chr2	80085292	80085292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agatgtcatgagacttttatCccatctgaaaattgtacgta	13	14	7	7	1	2	3	1	2	1	2	3	4	3	3	1	0	1	2	1	0	5	5			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:80085292C>T	ENST00000402739.4	+	3	457	c.452C>T	c.(451-453)tCc>tTc	p.S151F	CTNNA2_ENST00000496558.1_Missense_Mutation_p.S151F|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S185F|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S151F|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S151F|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S151F	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	151					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						AGACTTTTATCCCATCTGAAA	0.483																																																	0													60	59	60					2																	80085292		2008	4171	6179	SO:0001583	missense	0				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.452C>T	2.37:g.80085292C>T	ENSP00000384638:p.Ser151Phe		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.S185F	ENST00000402739.4	37	c.554		2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122197	0.56613	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	5.67	5.67	0.87782	.	0.385949	0.26742	N	0.022722	T	0.27278	0.0669	N	0.19112	0.55	0.45914	D	0.998757	B;B;B	0.17038	0.002;0.02;0.02	B;B;B	0.24848	0.016;0.056;0.056	T	0.05338	-1.0891	10	0.51188	T	0.08	.	13.0205	0.58784	0.0:0.9269:0.0:0.0731	.	151;151;151	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	F	151;151;185;151;151;151	ENSP00000418191:S151F;ENSP00000419295:S151F;ENSP00000355398:S185F;ENSP00000384638:S151F;ENSP00000444675:S151F;ENSP00000441705:S151F	ENSP00000355398:S185F	S	+	2	0	CTNNA2	79938800	1.000000	0.71417	0.981000	0.43875	0.975000	0.68041	3.143000	0.50608	2.677000	0.91161	0.655000	0.94253	TCC	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.483	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	-	0	36	0	C	NM_004389		80085292	1	tier1	-	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	17.31	43	9	SNP	0.969	T	T	80085292	C	T	80085292	3	4	115	1	0	0	0	0	1	0	0	0	4022	855	30	3	462	3	CTNNA2	2	80085292	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	35897562	80085292	163114081	20	30772											
ASTL	431705	genome.wustl.edu	37	chr2	96789707	96789707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagatgggactgtgggcttgGtggacactccggccagccag	8	7	16	10	1	0	1	0	0	0	1	1	3	1	3	3	5	1	1	3	5	1	1			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:96789707G>A	ENST00000342380.2	-	9	1177	c.1178C>T	c.(1177-1179)aCc>aTc	p.T393I		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TGTGGGCTTGGTGGACACTCC	0.607																																																	0													70	76	74					2																	96789707		2203	4300	6503	SO:0001583	missense	0			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.1178C>T	2.37:g.96789707G>A	ENSP00000343674:p.Thr393Ile			Missense_Mutation	SNP	pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	p.T393I	ENST00000342380.2	37	c.1178	CCDS33249.1	2	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805879	0.31961	.	.	ENSG00000188886	ENST00000342380	T	0.69435	-0.4	4.32	0.303	0.15791	.	0.938290	0.08787	N	0.893859	T	0.49098	0.1537	L	0.27053	0.805	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.42344	-0.9457	10	0.87932	D	0	0.0763	3.5189	0.07735	0.3075:0.0:0.5148:0.1777	.	393	Q6HA08	ASTL_HUMAN	I	393	ENSP00000343674:T393I	ENSP00000343674:T393I	T	-	2	0	ASTL	96153434	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.411000	0.21115	-0.056000	0.13221	0.555000	0.69702	ACC	ASTL	-	NULL	ENSG00000188886		0.607	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTL	HGNC	protein_coding	OTTHUMT00000338801.1	-	0	41	0	G			96789707	-1	tier1	-	no_errors	ENST00000342380	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.000	A	A	96789707	G	A	96789707	3	1	115	1	0	0	0	0	1	0	0	0	1064	1261	44	3	120	3	ASTL	2	96789707	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	16704415	96789707	146409666	21	30773											
NEB	4703	genome.wustl.edu	37	chr2	152425154	152425154	+	Missense_Mutation	SNP	T	T	C	0	1	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	catcgaggatctcgccacttTgtttcgctgtcacataatca	9	13	7	12	3	3	0	2	0	1	0	6	2	3	1	1	1	0	2	1	1	1	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:152425154T>C	ENST00000172853.10	-	83	12656	c.12509A>G	c.(12508-12510)cAa>cGa	p.Q4170R	NEB_ENST00000603639.1_Missense_Mutation_p.Q5871R|NEB_ENST00000409198.1_Missense_Mutation_p.Q4170R|NEB_ENST00000427231.2_Missense_Mutation_p.Q5871R|NEB_ENST00000604864.1_Missense_Mutation_p.Q5871R|NEB_ENST00000397345.3_Missense_Mutation_p.Q5871R			P20929	NEBU_HUMAN	nebulin	4170					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)		CTCGCCACTTTGTTTCGCTGT	0.373																																																	0													110	103	105					2																	152425154		1985	4184	6169	SO:0001583	missense	0			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.12509A>G	2.37:g.152425154T>C	ENSP00000172853:p.Gln4170Arg		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Q5871R	ENST00000172853.10	37	c.17612		2	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610728	0.46527	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.93	5.93	0.95920	.	0.151092	0.64402	D	0.000015	T	0.47838	0.1467	L	0.29908	0.895	0.80722	D	1	B;D	0.58268	0.033;0.982	B;P	0.61940	0.155;0.896	T	0.30149	-0.9988	10	0.15499	T	0.54	.	15.2147	0.73254	0.0:0.0:0.0:1.0	.	4170;601	P20929;Q14215	NEBU_HUMAN;.	R	4170;5871;5871;219;601;4170	ENSP00000386259:Q4170R;ENSP00000380505:Q5871R;ENSP00000416578:Q5871R;ENSP00000410961:Q601R;ENSP00000172853:Q4170R	ENSP00000172853:Q4170R	Q	-	2	0	NEB	152133400	0.998000	0.40836	0.997000	0.53966	0.988000	0.76386	4.011000	0.57124	2.271000	0.75665	0.533000	0.62120	CAA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.373	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	48	0	T	NM_004543		152425154	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.950	C	C	152425154	T	C	152425154	3	2	115	1	0	0	0	0	1	0	0	0	10341	1812	63	4	8362	4	NEB	2	152425154	Missense_Mutation	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09	55635447	152425154	90774219	22	30774											
TTC21B	79809	genome.wustl.edu	37	chr2	166737308	166737308	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcataagctttgcagcaaGactgaagaaaaatgggagac	17	8	10	6	0	1	4	1	1	0	3	1	5	1	4	0	1	3	3	0	1	5	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:166737308G>T	ENST00000243344.7	-	27	3823	c.3686C>A	c.(3685-3687)tCt>tAt	p.S1229Y	TTC21B_ENST00000536175.1_Splice_Site_p.S167Y	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1229					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						TTTGCAGCAAGACTGAAGAAA	0.338																																																	0													79	73	75					2																	166737308		2203	4300	6503	SO:0001630	splice_region_variant	0			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.3685-1C>A	2.37:g.166737308G>T			A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S1229Y	ENST00000243344.7	37	c.3686	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846974	0.91277	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.38887	1.11;1.11	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.099681	0.64402	D	0.000001	T	0.74412	0.3713	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.68039	0.955	T	0.80547	-0.1334	10	0.87932	D	0	-22.3212	20.244	0.98389	0.0:0.0:1.0:0.0	.	1229	Q7Z4L5	TT21B_HUMAN	Y	167;1229	ENSP00000438692:S167Y;ENSP00000243344:S1229Y	ENSP00000243344:S1229Y	S	-	2	0	TTC21B	166445554	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.424000	0.97464	2.865000	0.98341	0.655000	0.94253	TCT	TTC21B	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000123607		0.338	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1		0	18	0	G	NM_024753	Missense_Mutation	166737308	-1			no_errors	ENST00000243344	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	166737308	G	T	166737308	5	4	115	1	0	0	0	0	0	0	1	0	16737	956	33	3	276	3	TTC21B	2	166737308	Splice_Site	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	14312154	166737308	76462065	23	30775											
LASS6	253782	genome.wustl.edu	37	chr2	169626102	169626102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaaagaatccccacactgCgacaaccaccaatgggacca	15	3	9	14	1	0	1	0	0	0	1	1	4	1	3	5	2	2	0	5	2	4	0			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:169626102C>T	ENST00000305747.6	+	10	1672	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	CERS6-AS1_ENST00000425636.2_RNA|CERS6_ENST00000392687.4_Missense_Mutation_p.A370V	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	362					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCCCACACTGCGACAACCACC	0.498																																																	0													100	97	98					2																	169626102		2203	4300	6503	SO:0001583	missense	0			BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"Homeoboxes / CERS class"	23826	protein-coding gene	gene with protein product		615336	"LAG1 longevity assurance homolog 6 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 6"	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.1085C>T	2.37:g.169626102C>T	ENSP00000306579:p.Ala362Val		Q32M63|Q8N617	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom	p.A370V	ENST00000305747.6	37	c.1109	CCDS2228.1	2	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590321	0.66105	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.12039	2.89;2.72	5.97	5.09	0.68999	.	0.534882	0.23141	N	0.051474	T	0.09202	0.0227	N	0.13235	0.315	0.09310	N	0.999999	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.22243	-1.0222	10	0.27785	T	0.31	0.1654	14.6038	0.68463	0.0:0.9304:0.0:0.0696	.	370;362	Q32M63;Q6ZMG9	.;CERS6_HUMAN	V	362;370	ENSP00000306579:A362V;ENSP00000376453:A370V	ENSP00000306579:A362V	A	+	2	0	CERS6	169334348	0.023000	0.18921	0.687000	0.30102	0.992000	0.81027	2.794000	0.47853	2.831000	0.97527	0.655000	0.94253	GCG	CERS6	-	pirsf_Longevity_assurance_LAG1_LAC1	ENSG00000172292		0.498	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS6	HGNC	protein_coding	OTTHUMT00000255235.2		0	38	0	C	NM_203463		169626102	1			no_errors	ENST00000392687	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.233	T	T	169626102	C	T	169626102	3	4	115	1	0	0	0	0	1	0	0	0	8671	768	27	1	1123	1	LASS6	2	169626102	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	2888794	169626102	73573271	24	30776											
CIR1	9541	genome.wustl.edu	37	chr2	175213649	175213649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcttcttagacttgtccTtctcttcagaatcactgttg	6	19	5	11	0	5	2	2	0	3	2	8	2	6	2	1	0	0	1	1	0	2	7			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:175213649T>C	ENST00000342016.3	-	10	1021	c.929A>G	c.(928-930)aAg>aGg	p.K310R	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	310	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						AGACTTGTCCTTCTCTTCAGA	0.373																																																	0													176	178	177					2																	175213649		2203	4300	6503	SO:0001583	missense	0			AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"recepin", "CBF1 interacting corepressor"	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.929A>G	2.37:g.175213649T>C	ENSP00000339723:p.Lys310Arg		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	pfam_CIR_N_dom,superfamily_Znf_CCHC	p.K310R	ENST00000342016.3	37	c.929	CCDS2256.1	2	.	.	.	.	.	.	.	.	.	.	T	7.699	0.692671	0.15039	.	.	ENSG00000138433	ENST00000342016	.	.	.	5.16	-2.28	0.06826	.	1.043300	0.07461	N	0.900616	T	0.30727	0.0774	L	0.42245	1.32	0.09310	N	0.999997	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.28681	-1.0036	9	0.34782	T	0.22	.	5.9791	0.19397	0.0:0.3147:0.1283:0.5571	.	310;310	A0PJI7;Q86X95	.;CIR1_HUMAN	R	310	.	ENSP00000339723:K310R	K	-	2	0	CIR1	174921895	0.833000	0.29383	0.060000	0.19600	0.790000	0.44656	0.679000	0.25291	-0.323000	0.08602	-0.263000	0.10527	AAG	CIR1	-	NULL	ENSG00000138433		0.373	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIR1	HGNC	protein_coding	OTTHUMT00000255460.1	-	0	32	0	T	NM_004882		175213649	-1	tier1	-	no_errors	ENST00000342016	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.093	C	C	175213649	T	C	175213649	3	2	115	1	0	0	0	0	1	0	0	0	3439	1609	56	4	427	4	CIR1	2	175213649	Missense_Mutation	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09	5587547	175213649	67985724	25	30777											
TTN	7273	genome.wustl.edu	37	chr2	179444679	179444679	+	Silent	SNP	A	A	C	1	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	tgcttacgggaagctttgacAgcatcacgagtttcaccggg	9	10	12	10	3	2	1	2	1	0	0	2	3	2	2	1	2	4	4	1	2	2	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:179444679A>C	ENST00000591111.1	-	268	62636	c.62412T>G	c.(62410-62412)gcT>gcG	p.A20804A	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.A13380A|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.A22445A|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.A13572A|TTN_ENST00000359218.5_Silent_p.A13505A|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.A19877A			Q8WZ42	TITIN_HUMAN	titin	20804	Fibronectin type-III 50. {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)			AAGCTTTGACAGCATCACGAG	0.418																																																	0													120	114	116					2																	179444679		1919	4132	6051	SO:0001819	synonymous_variant	0			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.62412T>G	2.37:g.179444679A>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A19877	ENST00000591111.1	37	c.59631		2																																																																																			TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	28	0	A	NM_133378		179444679	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.837	C	C	179444679	A	C	179444679	2	2	115	1	0	0	0	0	0	0	0	1	16784	175	7	4		4	TTN	2	179444679	Silent	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	4231030	179444679	63754694	26	30778											
TTN	7273	genome.wustl.edu	37	chr2	179455006	179455006	+	Silent	SNP	A	A	G	1	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	ctcacggtaataacatcacgAcaagtaacatcaagttctac	16	9	5	11	2	4	0	3	0	1	0	4	1	4	0	0	1	3	3	0	1	6	5			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr2:179455006A>G	ENST00000591111.1	-	254	56747	c.56523T>C	c.(56521-56523)tgT>tgC	p.C18841C	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.C11417C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.C20482C|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.C11609C|TTN_ENST00000359218.5_Silent_p.C11542C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.C17914C			Q8WZ42	TITIN_HUMAN	titin	18841	Ig-like 107.				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)			TAACATCACGACAAGTAACAT	0.438																																																	0													202	184	189					2																	179455006		1960	4147	6107	SO:0001819	synonymous_variant	0			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.56523T>C	2.37:g.179455006A>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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.C17914	ENST00000591111.1	37	c.53742		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	68	0	A	NM_133378		179455006	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	20.37	86	22	SNP	0.997	G	G	179455006	A	G	179455006	2	3	115	1	0	0	0	0	0	0	0	1	16784	273	10	4		4	TTN	2	179455006	Silent	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	10327	179455006	63744367	27	30779											
NUP210	23225	genome.wustl.edu	37	chr3	13373869	13373869	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttcagggttgagcagctGcagcttctcaaacacctgca	10	11	9	11	0	2	1	2	1	1	0	3	1	2	1	1	1	6	6	1	1	2	4			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:13373869G>A	ENST00000254508.5	-	29	3941	c.3859C>T	c.(3859-3861)Cag>Tag	p.Q1287*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1287					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTGAGCAGCTGCAGCTTCTCA	0.478																																																	0													171	170	171					3																	13373869		2203	4300	6503	SO:0001587	stop_gained	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3859C>T	3.37:g.13373869G>A	ENSP00000254508:p.Gln1287*		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Nonsense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.Q1287*	ENST00000254508.5	37	c.3859	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.553553	0.98861	.	.	ENSG00000132182	ENST00000254508	.	.	.	5.13	4.24	0.50183	.	0.789478	0.11512	N	0.556605	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.2216	12.7055	0.57058	0.0:0.0:0.8351:0.1649	.	.	.	.	X	1287	.	ENSP00000254508:Q1287X	Q	-	1	0	NUP210	13348869	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	2.311000	0.43717	1.253000	0.44018	0.563000	0.77884	CAG	NUP210	-	NULL	ENSG00000132182		0.478	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1		0	74	0	G	NM_024923		13373869	-1			no_errors	ENST00000254508	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	0.999	A	A	13373869	G	A	13373869	4	1	115	1	0	0	0	0	0	1	0	0	10799	1328	46	3	1852	3	NUP210	3	13373869	Nonsense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09		13373869	184648561	28	30780											
ZNF860	344787	genome.wustl.edu	37	chr3	32030982	32030982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaaaaagttgactggtagCaccgacagatatgatcgaag	16	8	10	7	2	1	3	1	2	0	1	2	5	1	3	1	1	1	3	1	1	5	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:32030982C>T	ENST00000360311.4	+	2	960	c.411C>T	c.(409-411)agC>agT	p.S137S		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TGACTGGTAGCACCGACAGAT	0.383																																																	0													62	47	51					3																	32030982		692	1591	2283	SO:0001819	synonymous_variant	0			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.411C>T	3.37:g.32030982C>T			B4DFA4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S137	ENST00000360311.4	37	c.411	CCDS46784.1	3																																																																																			ZNF860	-	NULL	ENSG00000197385		0.383	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF860	HGNC	protein_coding	OTTHUMT00000341957.1	-	0	60	0	C			32030982	1	tier1	-	no_errors	ENST00000360311	ensembl	human	known	74_37	silent	7.81	59	5	SNP	0.001	T	T	32030982	C	T	32030982	2	4	115	1	0	0	0	0	0	0	0	1	18242	709	25	3		3	ZNF860	3	32030982	Silent	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	18657113	32030982	165991448	29	30781											
FEZF2	55079	genome.wustl.edu	37	chr3	62355953	62355953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagacctggtggaaggccttGttgcagatggtacatttgta	9	13	13	6	0	0	2	0	0	0	2	0	3	0	3	2	4	2	4	2	4	4	6			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:62355953G>C	ENST00000283268.3	-	5	1479	c.1185C>G	c.(1183-1185)aaC>aaG	p.N395K	FEZF2_ENST00000475839.1_Missense_Mutation_p.N395K|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Missense_Mutation_p.N395K	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	395					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGAAGGCCTTGTTGCAGATGG	0.498																																					NSCLC(170;1772 2053 12525 15604 23984)												0													279	257	265					3																	62355953		2203	4300	6503	SO:0001583	missense	0			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"Zinc fingers, C2H2-type"	13506	protein-coding gene	gene with protein product		607414	"zinc finger protein 312"	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1185C>G	3.37:g.62355953G>C	ENSP00000283268:p.Asn395Lys		A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N395K	ENST00000283268.3	37	c.1185	CCDS2897.1	3	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842371	0.71488	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.12569	2.67;2.67;2.67	5.86	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.042291	0.85682	D	0.000000	T	0.13798	0.0334	L	0.28608	0.87	0.80722	D	1	P	0.38827	0.649	B	0.38985	0.287	T	0.02464	-1.1155	10	0.72032	D	0.01	-23.647	16.2736	0.82632	0.0:0.0:0.8663:0.1337	.	395	Q8TBJ5	FEZF2_HUMAN	K	395	ENSP00000418589:N395K;ENSP00000283268:N395K;ENSP00000418804:N395K	ENSP00000283268:N395K	N	-	3	2	FEZF2	62330993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.922000	0.63404	1.459000	0.47892	0.655000	0.94253	AAC	FEZF2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000153266		0.498	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1	-	0	159	0	G	NM_018008		62355953	-1	tier1	-	no_errors	ENST00000283268	ensembl	human	known	74_37	missense	15.82	132	25	SNP	1.000	C	C	62355953	G	C	62355953	3	2	115	1	0	0	0	0	1	0	0	0	5848	1368	48	5	198	5	FEZF2	3	62355953	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	30324971	62355953	135666477	30	30782											
ATXN7	6314	genome.wustl.edu	37	chr3	63898558	63898558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgctgggacagtcgtGgaatctgtgggttgaggctt	7	12	17	5	1	1	2	0	2	1	0	2	4	1	4	0	4	1	3	0	4	1	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:63898558G>T	ENST00000295900.6	+	3	834	c.284G>T	c.(283-285)tGg>tTg	p.W95L	ATXN7_ENST00000538065.1_Missense_Mutation_p.W95L|ATXN7_ENST00000398590.3_Missense_Mutation_p.W95L|ATXN7_ENST00000487717.1_Missense_Mutation_p.W95L	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	95					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)		GGACAGTCGTGGAATCTGTGG	0.692																																																	0													54	59	58					3																	63898558		2019	4179	6198	SO:0001583	missense	0			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.284G>T	3.37:g.63898558G>T	ENSP00000295900:p.Trp95Leu		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	pfam_SCA7_dom	p.W95L	ENST00000295900.6	37	c.284	CCDS43102.1	3	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236397	0.58886	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000539129	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.17	3.29	0.37713	.	0.082708	0.52532	N	0.000064	T	0.50343	0.1610	M	0.66297	2.02	0.80722	D	1	B;D	0.63880	0.001;0.993	B;D	0.66196	0.002;0.942	T	0.52472	-0.8571	10	0.62326	D	0.03	-4.2505	13.3046	0.60345	0.0:0.0:0.8403:0.1597	.	95;95	O15265-2;O15265	.;ATX7_HUMAN	L	95	ENSP00000381590:W95L;ENSP00000295900:W95L;ENSP00000420234:W95L;ENSP00000439585:W95L	ENSP00000295900:W95L	W	+	2	0	ATXN7	63873598	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.361000	0.73070	0.729000	0.32403	-0.203000	0.12734	TGG	ATXN7	-	NULL	ENSG00000163635		0.692	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	HGNC	protein_coding	OTTHUMT00000352070.1	-	0	76	0	G	NM_000333		63898558	1	tier1	-	no_errors	ENST00000398590	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	63898558	G	T	63898558	3	4	115	1	0	0	0	0	1	0	0	0	1216	1357	47	3	286	3	ATXN7	3	63898558	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	1542605	63898558	134123872	31	30783											
OR5H6	79295	genome.wustl.edu	37	chr3	97983602	97983602	+	Silent	SNP	T	T	C	0	1	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	atgaccaatgaactatgcatTcagctattagtcttgtcatt	12	15	6	8	0	3	2	2	2	1	0	3	2	3	2	1	0	3	2	1	0	5	6	rs75354046	byFrequency	TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	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	0			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	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I158	ENST00000383696.2	37	c.474	CCDS33800.1	3																																																																																			OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000230301		0.358	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	-	0	45	0	T			97983602	1	tier1	rs75354046	no_errors	ENST00000383696	ensembl	human	known	74_37	silent	6.52	86	6	SNP	0.000	C	C	97983602	T	C	97983602	2	2	115	1	0	0	0	0	0	0	0	1	11202	1771	62	4		4	OR5H6	3	97983602	Silent	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09	34085044	97983602	100038828	32	30784											
COL8A1	1295	genome.wustl.edu	37	chr3	99514062	99514062	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cttcaaggcttcccaggaaaGccaggtttccttggtgaagt	9	11	11	10	0	1	1	1	1	0	0	3	2	3	2	3	4	1	2	3	4	3	4	rs369684623		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:99514062G>T	ENST00000261037.3	+	5	1697	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N	COL8A1_ENST00000273342.4_Missense_Mutation_p.K439N	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	439	Triple-helical region (COL1).				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						TCCCAGGAAAGCCAGGTTTCC	0.592																																																	0													37	35	36					3																	99514062		2202	4300	6502	SO:0001583	missense	0			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.1317G>T	3.37:g.99514062G>T	ENSP00000261037:p.Lys439Asn		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.K439N	ENST00000261037.3	37	c.1317	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889134	0.33348	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.93604	-3.25;-3.25	5.95	4.97	0.65823	.	0.159108	0.56097	D	0.000040	D	0.85944	0.5815	L	0.39085	1.19	0.44908	D	0.997925	P;P	0.44734	0.842;0.675	B;B	0.38428	0.273;0.203	T	0.81711	-0.0808	10	0.26408	T	0.33	.	4.4838	0.11780	0.1246:0.0:0.6523:0.2231	.	440;439	E7EPK9;P27658	.;CO8A1_HUMAN	N	439	ENSP00000261037:K439N;ENSP00000273342:K439N	ENSP00000261037:K439N	K	+	3	2	COL8A1	100996752	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.154000	0.31688	2.817000	0.96982	0.563000	0.77884	AAG	COL8A1	-	pfam_Collagen	ENSG00000144810		0.592	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	-	0	46	0	G	NM_001850		99514062	1	tier1	-	no_errors	ENST00000261037	ensembl	human	known	74_37	missense	16.67	55	11	SNP	1.000	T	T	99514062	G	T	99514062	3	4	115	1	0	0	0	0	1	0	0	0	3712	962	34	3	1323	3	COL8A1	3	99514062	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	1530460	99514062	98508368	33	30785											
MYH15	22989	genome.wustl.edu	37	chr3	108127166	108127166	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctggacttctgtcttctcTtcttcaattagtttcttgac	6	19	5	11	0	6	1	1	1	5	0	7	2	6	2	1	1	0	1	1	1	2	7			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:108127166T>A	ENST00000273353.3	-	33	4697	c.4641A>T	c.(4639-4641)gaA>gaT	p.E1547D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1547						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						CTGTCTTCTCTTCTTCAATTA	0.408																																																	0													232	215	220					3																	108127166		1881	4120	6001	SO:0001583	missense	0			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.4641A>T	3.37:g.108127166T>A	ENSP00000273353:p.Glu1547Asp			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E1547D	ENST00000273353.3	37	c.4641	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	T	6.511	0.462574	0.12342	.	.	ENSG00000144821	ENST00000273353	D	0.82433	-1.61	5.92	1.76	0.24704	Myosin tail (1);	.	.	.	.	T	0.61048	0.2316	N	0.03608	-0.345	0.19575	N	0.999962	B	0.06786	0.001	B	0.08055	0.003	T	0.42292	-0.9460	9	0.12430	T	0.62	.	10.0494	0.42205	0.0:0.1282:0.1018:0.7701	.	1547	Q9Y2K3	MYH15_HUMAN	D	1547	ENSP00000273353:E1547D	ENSP00000273353:E1547D	E	-	3	2	MYH15	109609856	0.043000	0.20138	0.053000	0.19242	0.014000	0.08584	0.211000	0.17474	0.123000	0.18342	-1.139000	0.01908	GAA	MYH15	-	pfam_Myosin_tail	ENSG00000144821		0.408	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	-	0	57	0	T	XM_036988		108127166	-1	tier1	-	no_errors	ENST00000273353	ensembl	human	known	74_37	missense	6.82	82	6	SNP	0.931	A	A	108127166	T	A	108127166	3	1	115	1	0	0	0	0	1	0	0	0	10072	1606	56	5	1239	5	MYH15	3	108127166	Missense_Mutation	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09	8613104	108127166	89895264	34	30786											
COL6A6	131873	genome.wustl.edu	37	chr3	130325811	130325811	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggacatacaggcccacagGtacaatgatttttcccctta	11	10	9	11	0	0	1	0	1	0	0	1	2	1	2	3	4	2	1	3	4	4	5	rs533837767		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:130325811G>T	ENST00000358511.6	+	20	4720		c.e20+1		COL6A6_ENST00000453409.2_Splice_Site	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6						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						AGGCCCACAGGTACAATGATT	0.358																																																	0													82	78	79					3																	130325811		1849	4089	5938	SO:0001630	splice_region_variant	0			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.4689+1G>T	3.37:g.130325811G>T			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Splice_Site	SNP	-	e20+1	ENST00000358511.6	37	c.4689+1	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628758	0.46944	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6146	0.68539	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL6A6	131808501	1.000000	0.71417	0.998000	0.56505	0.482000	0.33219	4.676000	0.61627	2.530000	0.85305	0.655000	0.94253	.	COL6A6	-	-	ENSG00000206384		0.358	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0	41	0	G	NM_001102608	Intron	130325811	1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	splice_site	8.00	46	4	SNP	1.000	T	T	130325811	G	T	130325811	5	4	115	1	0	0	0	0	0	0	1	0	3710	1275	44	3	4768	3	COL6A6	3	130325811	Splice_Site	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	22198645	130325811	67696619	35	30787											
MSL2	55167	genome.wustl.edu	37	chr3	135871405	135871405	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgtgttatatactcgcaTagttttttgtagcagttcac	8	18	8	7	1	2	0	1	0	1	0	3	0	2	0	0	0	2	6	0	0	5	9	rs544521594		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:135871405T>C	ENST00000309993.2	-	2	1050	c.318A>G	c.(316-318)ctA>ctG	p.L106L	MSL2_ENST00000434835.2_Silent_p.L32L	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	106	Sufficient for interaction with MSL1.				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						TATACTCGCATAGTTTTTTGT	0.378																																																	0													206	191	196					3																	135871405		2203	4300	6503	SO:0001819	synonymous_variant	0			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.318A>G	3.37:g.135871405T>C			B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Silent	SNP	pfscan_Znf_RING	p.L106	ENST00000309993.2	37	c.318	CCDS33861.1	3																																																																																			MSL2	-	NULL	ENSG00000174579		0.378	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL2	HGNC	protein_coding	OTTHUMT00000357347.1	-	0	63	0	T	NM_018133		135871405	-1	tier1	-	no_errors	ENST00000309993	ensembl	human	known	74_37	silent	20.00	76	19	SNP	0.942	C	C	135871405	T	C	135871405	2	2	115	1	0	0	0	0	0	0	0	1	9916	1393	49	4		4	MSL2	3	135871405	Silent	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09	5545594	135871405	62151025	36	30788											
MCF2L2	23101	genome.wustl.edu	37	chr3	182941140	182941140	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcattgattttaccttcaaCagcatctggtattttataag	11	17	5	8	0	3	1	2	1	1	0	3	1	3	1	1	1	3	2	1	1	5	8			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr3:182941140C>G	ENST00000328913.3	-	20	2592	c.2295G>C	c.(2293-2295)ctG>ctC	p.L765L	MCF2L2_ENST00000473233.1_Silent_p.L765L	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	765	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						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)			TTACCTTCAACAGCATCTGGT	0.453																																																	0													124	118	120					3																	182941140		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2295G>C	3.37:g.182941140C>G			O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L765	ENST00000328913.3	37	c.2295	CCDS3243.1	3																																																																																			MCF2L2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000053524		0.453	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1		0	25	0	C	NM_015078		182941140	-1			no_errors	ENST00000328913	ensembl	human	known	74_37	silent	26.09	17	6	SNP	0.996	G	G	182941140	C	G	182941140	2	3	115	1	0	0	0	0	0	0	0	1	9418	465	17	5		5	MCF2L2	3	182941140	Silent	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	47069735	182941140	15081290	37	30789											
SEL1L3	23231	genome.wustl.edu	37	chr4	25823745	25823745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattataatggaaatcctccCggaagctagagaagagaatg	16	8	10	7	1	0	2	0	0	0	2	2	6	2	4	2	2	1	1	2	2	7	3	rs147554165	byFrequency	TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr4:25823745C>T	ENST00000399878.3	-	7	1285	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	SEL1L3_ENST00000264868.5_Missense_Mutation_p.R353Q|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R235Q	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	388						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GAAATCCTCCCGGAAGCTAGA	0.438													C|||	3	0.000599042	0.0023	0	5008	,	,		20795	0		0	False		,,,				2504	0																0								C	GLN/ARG	0,3716		0,0,1858	71	70	70		1163	-1.2	0.2	4	dbSNP_134	70	1,8219		0,1,4109	no	missense	SEL1L3	NM_015187.3	43	0,1,5967	TT,TC,CC		0.0122,0.0,0.0084	benign	388/1133	25823745	1,11935	1858	4110	5968	SO:0001583	missense	0			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.1163G>A	4.37:g.25823745C>T	ENSP00000382767:p.Arg388Gln		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.R388Q	ENST00000399878.3	37	c.1163	CCDS47037.1	4	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	6.802	0.517014	0.13005	0.0	1.22E-4	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.15718	2.4;2.4;2.4	5.81	-1.18	0.09617	.	0.812999	0.11631	N	0.544787	T	0.06917	0.0176	L	0.35414	1.06	0.09310	N	1	B	0.15930	0.015	B	0.08055	0.003	T	0.33420	-0.9869	10	0.27785	T	0.31	-1.6042	3.9319	0.09290	0.2517:0.3883:0.0:0.3601	.	388	Q68CR1	SE1L3_HUMAN	Q	388;353;235	ENSP00000382767:R388Q;ENSP00000264868:R353Q;ENSP00000425438:R235Q	ENSP00000264868:R353Q	R	-	2	0	SEL1L3	25432843	0.035000	0.19736	0.178000	0.23040	0.647000	0.38526	0.126000	0.15769	-0.676000	0.05238	-0.152000	0.13540	CGG	SEL1L3	-	superfamily_ConA-like_lec_gl_sf	ENSG00000091490		0.438	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1		0	44	0	C	NM_015187		25823745	-1			no_errors	ENST00000399878	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.219	T	T	25823745	C	T	25823745	3	4	115	1	0	0	0	0	1	0	0	0	14057	652	23	1	2307	1	SEL1L3	4	25823745	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09		25823745	165330531	38	30790											
C4orf21	55345	genome.wustl.edu	37	chr4	113506828	113506828	+	Missense_Mutation	SNP	A	A	G	1	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	aaatgatatgtcaacttttgAaagagctttctgcaggtttt	12	16	8	5	0	2	3	1	2	1	1	2	3	2	3	0	1	3	3	0	1	4	6			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr4:113506828A>G	ENST00000505019.1	-	14	4095	c.3970T>C	c.(3970-3972)Tca>Cca	p.S1324P		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1324						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCAACTTTTGAAAGAGCTTTC	0.308																																																	0													80	78	79					4																	113506828		2203	4299	6502	SO:0001583	missense	0																														ENST00000505019.1:c.3970T>C	4.37:g.113506828A>G	ENSP00000424737:p.Ser1324Pro		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.S1324P	ENST00000505019.1	37	c.3970		4	.	.	.	.	.	.	.	.	.	.	A	16.52	3.145553	0.57044	.	.	ENSG00000138658	ENST00000505019	D	0.82984	-1.67	5.65	3.11	0.35812	.	0.267337	0.26341	N	0.024940	D	0.83631	0.5296	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.62491	0.903	T	0.80379	-0.1407	10	0.35671	T	0.21	-20.9568	12.8693	0.57957	0.6106:0.3894:0.0:0.0	.	1324	G5EA02	.	P	1324	ENSP00000424737:S1324P	ENSP00000404365:S222P	S	-	1	0	C4orf21	113726277	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	2.470000	0.45119	0.369000	0.24510	0.528000	0.53228	TCA	C4orf21	-	NULL	ENSG00000138658		0.308	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	-	0	42	0	A			113506828	-1	tier1	-	no_errors	ENST00000505019	ensembl	human	known	74_37	missense	16.67	35	7	SNP	0.973	G	G	113506828	A	G	113506828	3	3	115	1	0	0	0	0	1	0	0	0	2261	246	9	4	2404	4	C4orf21	4	113506828	Missense_Mutation	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	87683083	113506828	77647448	39	30791											
MAB21L2	10586	genome.wustl.edu	37	chr4	151504688	151504688	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggagcgctatgtggtgcaAatcactccggcgttcaagtg	9	9	14	9	3	2	0	2	0	0	0	3	1	3	1	1	3	2	3	1	3	3	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr4:151504688A>T	ENST00000317605.4	+	1	1612	c.507A>T	c.(505-507)caA>caT	p.Q169H	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	169					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ATGTGGTGCAAATCACTCCGG	0.642																																																	0													79	79	79					4																	151504688		2203	4300	6503	SO:0001583	missense	0			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.507A>T	4.37:g.151504688A>T	ENSP00000324701:p.Gln169His		B3KP37|Q9HBA7	Missense_Mutation	SNP	pfam_Mab-21_dom,pfscan_Ricin_B_lectin	p.Q169H	ENST00000317605.4	37	c.507	CCDS3774.1	4	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868911	0.72065	.	.	ENSG00000181541	ENST00000317605	T	0.08458	3.09	5.67	-6.79	0.01715	.	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	M	0.83312	2.635	0.49483	D	0.999792	D	0.56968	0.978	D	0.62955	0.909	T	0.45600	-0.9250	10	0.42905	T	0.14	-7.3772	20.6793	0.99705	0.1956:0.0:0.8044:0.0	.	169	Q9Y586	MB212_HUMAN	H	169	ENSP00000324701:Q169H	ENSP00000324701:Q169H	Q	+	3	2	MAB21L2	151724138	0.898000	0.30612	0.911000	0.35937	0.995000	0.86356	0.017000	0.13399	-1.069000	0.03153	0.459000	0.35465	CAA	MAB21L2	-	pfam_Mab-21_dom	ENSG00000181541		0.642	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L2	HGNC	protein_coding	OTTHUMT00000364937.1		0	19	0	A	NM_006439		151504688	1			no_errors	ENST00000317605	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.981	T	T	151504688	A	T	151504688	3	4	115	1	0	0	0	0	1	0	0	0	9178	11	1	5	509	5	MAB21L2	4	151504688	Missense_Mutation	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	37997860	151504688	39649588	40	30792											
KIAA0922	23240	genome.wustl.edu	37	chr4	154471245	154471245	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	cttctcggacaaactatttaGtggaaaaggcttacattttc	12	14	7	8	1	1	0	0	0	1	0	3	2	1	2	0	3	2	1	0	3	6	7			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr4:154471245G>C	ENST00000409663.3	+	4	312	c.260G>C	c.(259-261)aGt>aCt	p.S87T	KIAA0922_ENST00000440693.1_Missense_Mutation_p.S87T|KIAA0922_ENST00000409959.3_Missense_Mutation_p.S87T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	87						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)				AAACTATTTAGTGGAAAAGGC	0.264																																																	0													71	62	65					4																	154471245		692	1585	2277	SO:0001583	missense	0			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.260G>C	4.37:g.154471245G>C	ENSP00000386574:p.Ser87Thr		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.S87T	ENST00000409663.3	37	c.260	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	G	7.676	0.688013	0.14973	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959	T;T;T	0.18016	2.5;2.24;2.5	5.77	4.01	0.46588	.	.	.	.	.	T	0.13286	0.0322	L	0.39898	1.24	0.23487	N	0.997572	B;B	0.12013	0.005;0.003	B;B	0.12156	0.007;0.004	T	0.28618	-1.0038	9	0.27785	T	0.31	.	6.1553	0.20334	0.1888:0.0:0.6585:0.1527	.	87;87	A2VDJ0-5;A2VDJ0	.;T131L_HUMAN	T	87	ENSP00000386574:S87T;ENSP00000409663:S87T;ENSP00000386787:S87T	ENSP00000386574:S87T	S	+	2	0	KIAA0922	154690695	0.995000	0.38212	0.984000	0.44739	0.996000	0.88848	0.963000	0.29293	0.853000	0.35312	0.655000	0.94253	AGT	KIAA0922	-	NULL	ENSG00000121210		0.264	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	-	0	31	0	G	NM_015196		154471245	1	tier1	-	no_errors	ENST00000409959	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.999	C	C	154471245	G	C	154471245	3	2	115	1	0	0	0	0	1	0	0	0	8228	1029	36	5	274	5	KIAA0922	4	154471245	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	2966557	154471245	36683031	41	30793											
WDR70	55100	genome.wustl.edu	37	chr5	37725063	37725063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgcctatgttccgtgagcCccgccaacggagtacaagga	9	8	11	13	3	0	1	0	1	0	0	1	3	1	3	5	2	4	2	5	2	4	4			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr5:37725063C>T	ENST00000265107.4	+	16	1781	c.1625C>T	c.(1624-1626)cCc>cTc	p.P542L		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	542							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)			TTCCGTGAGCCCCGCCAACGG	0.458																																																	0													141	145	143					5																	37725063		2203	4300	6503	SO:0001583	missense	0			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.1625C>T	5.37:g.37725063C>T	ENSP00000265107:p.Pro542Leu		Q9H053	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P542L	ENST00000265107.4	37	c.1625	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730501	0.69074	.	.	ENSG00000082068	ENST00000265107	T	0.68025	-0.3	5.95	5.95	0.96441	.	0.056189	0.64402	D	0.000001	T	0.64907	0.2641	M	0.62723	1.935	0.80722	D	1	P	0.34462	0.454	B	0.27887	0.084	T	0.62723	-0.6794	10	0.33940	T	0.23	-44.6129	20.4024	0.99000	0.0:1.0:0.0:0.0	.	542	Q9NW82	WDR70_HUMAN	L	542	ENSP00000265107:P542L	ENSP00000265107:P542L	P	+	2	0	WDR70	37760820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.214000	0.77958	2.827000	0.97445	0.650000	0.86243	CCC	WDR70	-	NULL	ENSG00000082068		0.458	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	-	0	37	0	C	NM_018034		37725063	1	tier1	-	no_errors	ENST00000265107	ensembl	human	known	74_37	missense	14.29	54	9	SNP	1.000	T	T	37725063	C	T	37725063	3	4	115	1	0	0	0	0	1	0	0	0	17370	623	22	3	1687	3	WDR70	5	37725063	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09		37725063	143190197	42	30794											
AP3B1	8546	genome.wustl.edu	37	chr5	77477446	77477446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccttctgatcatcatcaGattcgtagaaattctttcca	10	17	4	10	1	5	3	3	1	2	2	8	3	7	3	2	0	0	1	2	0	2	6			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr5:77477446G>T	ENST00000255194.6	-	8	1002	c.827C>A	c.(826-828)tCt>tAt	p.S276Y	AP3B1_ENST00000519295.1_Missense_Mutation_p.S227Y	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	276					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)		ATCATCATCAGATTCGTAGAA	0.348									Hermansky-Pudlak syndrome																																								0													116	113	114					5																	77477446		2203	4299	6502	SO:0001583	missense	0	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.827C>A	5.37:g.77477446G>T	ENSP00000255194:p.Ser276Tyr		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.S276Y	ENST00000255194.6	37	c.827	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850867	0.91277	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.58940	0.3;0.31	5.93	5.93	0.95920	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.80084	-0.1530	10	0.87932	D	0	-14.6804	20.3368	0.98748	0.0:0.0:1.0:0.0	.	276	O00203	AP3B1_HUMAN	Y	276;227;276;180	ENSP00000255194:S276Y;ENSP00000430597:S227Y	ENSP00000255194:S276Y	S	-	2	0	AP3B1	77513202	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.444000	0.97578	2.805000	0.96524	0.655000	0.94253	TCT	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000132842		0.348	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2		0	35	0	G			77477446	-1			no_errors	ENST00000255194	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	77477446	G	T	77477446	3	4	115	1	0	0	0	0	1	0	0	0	744	942	33	3	2537	3	AP3B1	5	77477446	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	39752383	77477446	103437814	43	30795											
GPR98	84059	genome.wustl.edu	37	chr5	90041550	90041550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagagattggcattaatGattctgtaacaataaccatt	15	12	8	6	0	1	2	0	1	1	1	1	4	1	2	1	1	3	3	1	1	4	6			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr5:90041550G>T	ENST00000405460.2	+	52	11008	c.10912G>T	c.(10912-10914)Gat>Tat	p.D3638Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3638					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)		TGGCATTAATGATTCTGTAAC	0.358																																																	0													114	103	106					5																	90041550		1870	4110	5980	SO:0001583	missense	0			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.10912G>T	5.37:g.90041550G>T	ENSP00000384582:p.Asp3638Tyr		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.D3638Y	ENST00000405460.2	37	c.10912	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.96|10.96	1.498021|1.498021	0.26861|0.26861	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.28255|.	1.62|.	5.59|5.59	1.6|1.6	0.23607|0.23607	.|.	0.285490|.	0.44902|.	D|.	0.000414|.	T|T	0.38241|0.38241	0.1033|0.1033	N|N	0.24115|0.24115	0.695|0.695	0.47905|0.47905	D|D	0.99954|0.99954	B;B|.	0.17852|.	0.024;0.016|.	B;B|.	0.17722|.	0.019;0.009|.	T|T	0.07520|0.07520	-1.0768|-1.0768	10|5	0.49607|.	T|.	0.09|.	.|.	6.6715|6.6715	0.23070|0.23070	0.3405:0.1197:0.5399:0.0|0.3405:0.1197:0.5399:0.0	.|.	3638;3638|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	Y|I	3638|1203	ENSP00000384582:D3638Y|.	ENSP00000296619:D3638Y|.	D|M	+|+	1|3	0|0	GPR98|GPR98	90077306|90077306	0.969000|0.969000	0.33509|0.33509	0.081000|0.081000	0.20488|0.20488	0.859000|0.859000	0.49053|0.49053	0.630000|0.630000	0.24553|0.24553	0.722000|0.722000	0.32252|0.32252	0.563000|0.563000	0.77884|0.77884	GAT|ATG	GPR98	-	NULL	ENSG00000164199		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	38	0	G	NM_032119		90041550	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.687	T	T	90041550	G	T	90041550	3	4	115	1	0	0	0	0	1	0	0	0	6748	1290	45	3	11118	3	GPR98	5	90041550	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	12564104	90041550	90873710	44	30796											
MCC	4163	genome.wustl.edu	37	chr5	112389443	112389444	+	Frame_Shift_Ins	INS	-	-	A																															tcatggccatgagctcctgcINSataagcactgcgttttccag																										TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr5:112389443_112389444insA	ENST00000302475.4	-	13	2419_2420	c.1856_1857insT	c.(1855-1857)atgfs	p.M619fs	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Frame_Shift_Ins_p.M809fs|MCC_ENST00000515367.2_Frame_Shift_Ins_p.M556fs	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	619					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)		TGAGCTCCTGCATAAGCACTGC	0.55																																																	0																																										SO:0001589	frameshift_variant	0				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.1857dupT	5.37:g.112389444_112389444dupA	ENSP00000305617:p.Met619fs		D3DT05|Q6ZR04	Frame_Shift_Ins	INS	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.M619fs	ENST00000302475.4	37	c.1857_1856	CCDS4111.1	5																																																																																			MCC	-	NULL	ENSG00000171444		0.55	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3		0	37	0	-	NM_001085377		112389444	-1	tier1		no_errors	ENST00000302475	ensembl	human	known	74_37	frame_shift_ins	25.00	33	11	INS	1.000:1.000	A	A	112389444	-	A	112389443	7	5	115	1	0	1	1	0	0	0	0	0	9411	710	25	0	652	0	MCC	5	112389443	Frame_Shift_Ins	INS	-	TCGA-LN-A4A5-01A-21D-A27G-09	22347893	112389443	68525817	45	30797											
CYFIP2	26999	genome.wustl.edu	37	chr5	156747664	156747664	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagttcttccttccccagcGtcctacaggcaattcgaaag	9	12	7	13	2	1	0	0	0	1	0	5	1	4	0	4	1	2	2	4	1	4	6	rs372630008		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr5:156747664G>T	ENST00000521420.1	+	14	1538	c.1447G>T	c.(1447-1449)Gtc>Ttc	p.V483F	CYFIP2_ENST00000435847.2_Splice_Site_p.V183F|CYFIP2_ENST00000541131.1_Splice_Site_p.V434F|CYFIP2_ENST00000522463.1_Splice_Site_p.V313F|CYFIP2_ENST00000318218.6_Splice_Site_p.V509F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000347377.6_Splice_Site_p.V509F|CYFIP2_ENST00000377576.3_Splice_Site_p.V509F					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)			CTTCCCCAGCGTCCTACAGGC	0.542																																																	0													56	56	56					5																	156747664		1966	4138	6104	SO:0001630	splice_region_variant	0			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.1446-1G>T	5.37:g.156747664G>T				Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.V509F	ENST00000521420.1	37	c.1525		5	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660281	0.88154	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.64	5.64	0.86602	.	0.109027	0.64402	D	0.000007	T	0.64338	0.2589	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.69078	0.989;0.997;0.992;0.997;0.99;0.987	D;D;D;D;D;D	0.73708	0.923;0.981;0.932;0.966;0.94;0.962	T	0.65253	-0.6213	10	0.72032	D	0.01	-37.2044	19.7154	0.96115	0.0:0.0:1.0:0.0	.	373;313;483;509;509;509	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	F	509;313;483;509;509;434;183	ENSP00000325817:V509F;ENSP00000428009:V313F;ENSP00000430904:V483F;ENSP00000313567:V509F;ENSP00000366799:V509F;ENSP00000444645:V434F;ENSP00000403793:V183F	ENSP00000325817:V509F	V	+	1	0	CYFIP2	156680242	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	9.814000	0.99346	2.664000	0.90586	0.655000	0.94253	GTC	CYFIP2	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.542	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1		0	49	0	G	NM_001037332	Missense_Mutation	156747664	1			no_errors	ENST00000318218	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	156747664	G	T	156747664	5	4	115	1	0	0	0	0	0	0	1	0	4147	1159	40	2	1579	2	CYFIP2	5	156747664	Splice_Site	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	44358221	156747664	24167596	46	30798											
HIST1H2AK	8330	genome.wustl.edu	37	chr6	27805782	27805783	+	Frame_Shift_Ins	INS	-	-	A																															taggcagcagcacggcctggINSatattgggcaggacaccacc																										TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:27805782_27805783insA	ENST00000330180.2	-	1	334_335	c.335_336insT	c.(334-336)atcfs	p.I112fs	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	112						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						GCACGGCCTGGATATTGGGCAG	0.574																																																	0																																										SO:0001589	frameshift_variant	0			Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"Histones / Replication-dependent"	4726	protein-coding gene	gene with protein product		602788	"H2A histone family, member D", "histone 1, H2ak"	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.336dupT	6.37:g.27805783_27805783dupA	ENSP00000330307:p.Ile112fs		P02261|Q2M1R2|Q76PA6	Frame_Shift_Ins	INS	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.Q113fs	ENST00000330180.2	37	c.336_335	CCDS4632.1	6																																																																																			HIST1H2AK	-	superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000184348		0.574	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AK	HGNC	protein_coding	OTTHUMT00000043814.1		0	158	0	-	NM_003510		27805783	-1	tier1		no_errors	ENST00000330180	ensembl	human	known	74_37	frame_shift_ins	12.37	163	23	INS	1.000:1.000	A	A	27805783	-	A	27805782	7	5	115	1	0	1	1	0	0	0	0	0	7164	1164	41	0	60	0	HIST1H2AK	6	27805782	Frame_Shift_Ins	INS	-	TCGA-LN-A4A5-01A-21D-A27G-09		27805782	143309285	47	30799											
ZBTB22	9278	genome.wustl.edu	37	chr6	33284415	33284415	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacactgggcagcgagatGgaggtcatgcctttgagtag	10	9	15	7	1	1	3	1	2	0	1	1	5	1	4	1	3	2	2	1	3	1	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:33284415G>A	ENST00000431845.2	-	2	430	c.279C>T	c.(277-279)tcC>tcT	p.S93S	ZBTB22_ENST00000418724.1_Silent_p.S93S|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	93	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCAGCGAGATGGAGGTCATGC	0.597																																																	0													103	104	104					6																	33284415		2203	4300	6503	SO:0001819	synonymous_variant	0			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.279C>T	6.37:g.33284415G>A			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S93	ENST00000431845.2	37	c.279	CCDS4775.1	6																																																																																			ZBTB22	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000236104		0.597	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	-	0	50	0	G			33284415	-1	tier1	-	no_errors	ENST00000418724	ensembl	human	known	74_37	silent	20.31	51	13	SNP	0.995	A	A	33284415	G	A	33284415	2	1	115	1	0	0	0	0	0	0	0	1	17578	1335	47	3		3	ZBTB22	6	33284415	Silent	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	5478633	33284415	137830652	48	30800											
DLK2	65989	genome.wustl.edu	37	chr6	43418528	43418529	+	Frame_Shift_Ins	INS	-	-	AA																															aagctaggctcacctagcccINSagcctcttgcctccgcacca																								rs35192247	byFrequency	TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:43418528_43418529insAA	ENST00000357338.3	-	6	1600_1601	c.900_901insTT	c.(898-903)gctgggfs	p.G301fs	DLK2_ENST00000414245.1_Frame_Shift_Ins_p.G295fs|DLK2_ENST00000372485.1_Frame_Shift_Ins_p.G295fs|DLK2_ENST00000372488.3_Frame_Shift_Ins_p.G301fs	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	301			G -> R (in dbSNP:rs35192247).		negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCACCTAGCCCAGCCTCTTGCC	0.668																																																	0																																										SO:0001589	frameshift_variant	0			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.900_901insTT	6.37:g.43418528_43418529insAA	ENSP00000349893:p.Gly301fs		B3KNZ7|Q5T3T8|Q9BQ54	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G300fs	ENST00000357338.3	37	c.901_900	CCDS4897.1	6																																																																																			DLK2	-	NULL	ENSG00000171462		0.668	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DLK2	HGNC	protein_coding	OTTHUMT00000040618.1		0	11	0	-	NM_023932		43418529	-1	tier1		no_errors	ENST00000357338	ensembl	human	known	74_37	frame_shift_ins	15.79	16	3	INS	0.909:0.004	AA	AA	43418529	-	AA	43418528	7	5	115	1	0	1	1	0	0	0	0	0	4579	594	21	0	254	0	DLK2	6	43418528	Frame_Shift_Ins	INS	-	TCGA-LN-A4A5-01A-21D-A27G-09	10134113	43418528	127696539	49	30801											
RIMS1	22999	genome.wustl.edu	37	chr6	73043353	73043353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatggggacttcaggaagatCcatcatgaagagcaccagtg	13	7	13	8	0	2	3	2	1	0	2	3	6	3	5	2	3	1	1	2	3	2	1			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:73043353C>T	ENST00000521978.1	+	29	4181	c.4181C>T	c.(4180-4182)tCc>tTc	p.S1394F	RIMS1_ENST00000401910.3_Missense_Mutation_p.S714F|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.S1217F|RIMS1_ENST00000538414.1_Missense_Mutation_p.S200F|RIMS1_ENST00000348717.5_Missense_Mutation_p.S1177F|RIMS1_ENST00000517960.1_Missense_Mutation_p.S1177F|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.S1243F	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1394	Ser-rich.				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)				TCAGGAAGATCCATCATGAAG	0.458																																																	0													67	67	67					6																	73043353		1975	4164	6139	SO:0001583	missense	0			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.4181C>T	6.37:g.73043353C>T	ENSP00000428417:p.Ser1394Phe		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.S1394F	ENST00000521978.1	37	c.4181	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.01|15.01	2.705699|2.705699	0.48412|0.48412	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414	.|T;T;T;T;T;T;T;T;T	.|0.19532	.|2.42;2.55;2.49;2.55;2.48;2.55;2.37;2.15;2.14	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.301012	.|0.27429	.|N	.|0.019406	T|T	0.08670|0.08670	0.0215|0.0215	L|L	0.36672|0.36672	1.1|1.1	0.24160|0.24160	N|N	0.995668|0.995668	.|B;B;B;B;B;B;B	.|0.25719	.|0.132;0.026;0.132;0.01;0.026;0.087;0.09	.|B;B;B;B;B;B;B	.|0.23716	.|0.048;0.015;0.048;0.009;0.007;0.033;0.047	T|T	0.06826|0.06826	-1.0805|-1.0805	5|10	.|0.62326	.|D	.|0.03	-9.0403|-9.0403	12.4511|12.4511	0.55677|0.55677	0.0:0.9188:0.0:0.0812|0.0:0.9188:0.0:0.0812	.|.	.|200;1243;714;1177;470;1217;1394	.|B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;RIMS1_HUMAN	S|F	312|1217;1243;1217;1177;1243;1177;1394;714;559;442;200	.|ENSP00000430101:S1217F;ENSP00000275037:S1177F;ENSP00000264839:S1243F;ENSP00000429959:S1177F;ENSP00000428417:S1394F;ENSP00000385649:S714F;ENSP00000389503:S559F;ENSP00000359448:S442F;ENSP00000439730:S200F	.|ENSP00000264839:S1243F	P|S	+|+	1|2	0|0	RIMS1|RIMS1	73100074|73100074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.073000|1.073000	0.30691|0.30691	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	CCA|TCC	RIMS1	-	NULL	ENSG00000079841		0.458	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1		0	30	0	C			73043353	1			no_errors	ENST00000521978	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	73043353	C	T	73043353	3	4	115	1	0	0	0	0	1	0	0	0	13412	855	30	3	4458	3	RIMS1	6	73043353	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	29624825	73043353	98071714	50	30802											
BACH2	60468	genome.wustl.edu	37	chr6	90642291	90642291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcccagaggtacaattctCggaggtgttgctgggtgccc	6	10	13	12	1	1	1	0	0	1	1	3	2	2	2	3	4	3	3	3	4	2	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:90642291C>T	ENST00000257749.4	-	9	3069	c.2362G>A	c.(2362-2364)Gag>Aag	p.E788K	BACH2_ENST00000343122.3_Missense_Mutation_p.E788K|BACH2_ENST00000537989.1_Missense_Mutation_p.E788K	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	788						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)		GTACAATTCTCGGAGGTGTTG	0.632																																																	0																																										SO:0001583	missense	0			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.2362G>A	6.37:g.90642291C>T	ENSP00000257749:p.Glu788Lys		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.E788K	ENST00000257749.4	37	c.2362	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193093	0.38707	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.38401	1.14;1.14;1.14	5.51	5.51	0.81932	.	0.174143	0.49916	D	0.000126	T	0.21347	0.0514	L	0.54323	1.7	0.58432	D	0.999995	B	0.28880	0.226	B	0.17098	0.017	T	0.04607	-1.0939	10	0.21014	T	0.42	-0.0097	19.4133	0.94685	0.0:1.0:0.0:0.0	.	788	Q9BYV9	BACH2_HUMAN	K	788	ENSP00000257749:E788K;ENSP00000437473:E788K;ENSP00000345642:E788K	ENSP00000257749:E788K	E	-	1	0	BACH2	90699012	0.999000	0.42202	0.994000	0.49952	0.871000	0.50021	5.311000	0.65786	2.579000	0.87056	0.561000	0.74099	GAG	BACH2	-	NULL	ENSG00000112182		0.632	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2		0	33	0	C	NM_021813		90642291	-1			no_errors	ENST00000257749	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	90642291	C	T	90642291	3	4	115	1	0	0	0	0	1	0	0	0	1285	893	31	1	167	1	BACH2	6	90642291	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	17598938	90642291	80472776	51	30803											
MTHFD1L	25902	genome.wustl.edu	37	chr6	151247388	151247388	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgtttgtccgtgctagaaAggttaaaggatcaagcagat	13	11	11	6	2	1	2	1	0	0	2	2	3	2	3	1	2	3	4	1	2	6	4			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr6:151247388A>G	ENST00000367321.3	+	11	1487	c.1213A>G	c.(1213-1215)Agg>Ggg	p.R405G		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	405	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)		CGTGCTAGAAAGGTTAAAGGA	0.403																																																	0													150	142	144					6																	151247388		2203	4300	6503	SO:0001583	missense	0			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.1213A>G	6.37:g.151247388A>G	ENSP00000356290:p.Arg405Gly		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.R405G	ENST00000367321.3	37	c.1213	CCDS5228.1	6	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596743	0.66332	.	.	ENSG00000120254	ENST00000367321;ENST00000441122	T;T	0.24350	1.86;1.86	6.03	6.03	0.97812	.	0.088018	0.85682	D	0.000000	T	0.54581	0.1867	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	0.992;0.976;1.0	D;P;D	0.75020	0.934;0.904;0.985	T	0.67098	-0.5756	10	0.72032	D	0.01	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	406;160;405	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	G	405;76	ENSP00000356290:R405G;ENSP00000407070:R76G	ENSP00000356290:R405G	R	+	1	2	MTHFD1L	151289081	0.999000	0.42202	0.983000	0.44433	0.392000	0.30506	4.327000	0.59247	2.308000	0.77769	0.533000	0.62120	AGG	MTHFD1L	-	pfam_Formate_THF_ligase,superfamily_P-loop_NTPase	ENSG00000120254		0.403	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	-	0	70	0	A	NM_015440		151247388	1	tier1	-	no_errors	ENST00000367321	ensembl	human	known	74_37	missense	19.15	38	9	SNP	0.999	G	G	151247388	A	G	151247388	3	3	115	1	0	0	0	0	1	0	0	0	9966	63	3	4	1255	4	MTHFD1L	6	151247388	Missense_Mutation	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	60605097	151247388	19867679	52	30804											
PCLO	27445	genome.wustl.edu	37	chr7	82580258	82580258	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccaggagctcacgctccaAgtctagctgctgctgttgtt	6	13	10	12	1	2	0	1	0	1	0	4	1	4	1	2	1	4	7	2	1	2	4			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr7:82580258A>C	ENST00000333891.9	-	6	9983	c.9646T>G	c.(9646-9648)Ttg>Gtg	p.L3216V	PCLO_ENST00000423517.2_Missense_Mutation_p.L3216V|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCACGCTCCAAGTCTAGCTGC	0.458																																																	0													52	50	51					7																	82580258		1862	4107	5969	SO:0001583	missense	0			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.9646T>G	7.37:g.82580258A>C	ENSP00000334319:p.Leu3216Val			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.L3216V	ENST00000333891.9	37	c.9646	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	A	5.859	0.342584	0.11069	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.24350	1.86;1.87	5.33	2.99	0.34606	.	.	.	.	.	T	0.44664	0.1304	M	0.68593	2.085	0.80722	D	1	D;D;D	0.76494	0.993;0.999;0.999	D;D;D	0.80764	0.952;0.994;0.994	T	0.36648	-0.9739	9	0.87932	D	0	.	8.7523	0.34622	0.8441:0.0:0.1559:0.0	.	3147;3216;3216	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	V	3147;3216;3216	ENSP00000334319:L3216V;ENSP00000388393:L3216V	ENSP00000334319:L3216V	L	-	1	2	PCLO	82418194	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.811000	0.38942	0.875000	0.35847	0.260000	0.18958	TTG	PCLO	-	NULL	ENSG00000186472		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	39	0	A	NM_014510		82580258	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	C	C	82580258	A	C	82580258	3	2	115	1	0	0	0	0	1	0	0	0	11622	69	3	4	5879	4	PCLO	7	82580258	Missense_Mutation	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09		82580258	76558405	53	30805											
AKAP9	10142	genome.wustl.edu	37	chr7	91624022	91624022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaagcaagaagagaaaagGatgagacaatgagagaattt	22	5	11	3	0	0	5	0	2	0	4	0	9	0	6	0	1	2	1	0	1	8	1			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr7:91624022G>A	ENST00000359028.2	+	7	925	c.700G>A	c.(700-702)Gat>Aat	p.D234N	AKAP9_ENST00000356239.3_Missense_Mutation_p.D222N|AKAP9_ENST00000394564.1_Missense_Mutation_p.D222N|AKAP9_ENST00000358100.2_Missense_Mutation_p.D234N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	234	Gln-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)			AAGAGAAAAGGATGAGACAAT	0.313			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													63	65	64					7																	91624022		2203	4296	6499	SO:0001583	missense	0			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.700G>A	7.37:g.91624022G>A	ENSP00000351922:p.Asp234Asn		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.D234N	ENST00000359028.2	37	c.700		7	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187711	0.78789	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	4.94	4.94	0.65067	.	0.000000	0.37261	N	0.002171	T	0.58308	0.2113	L	0.27053	0.805	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.996;0.993	T	0.62520	-0.6837	10	0.59425	D	0.04	.	18.5538	0.91075	0.0:0.0:1.0:0.0	.	222;222;234;222	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	N	222;234;234;234;234;222;173	ENSP00000348573:D222N;ENSP00000351922:D234N;ENSP00000350813:D234N;ENSP00000378065:D222N;ENSP00000391704:D173N	ENSP00000348573:D222N	D	+	1	0	AKAP9	91461958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.143000	0.94623	2.440000	0.82611	0.655000	0.94253	GAT	AKAP9	-	NULL	ENSG00000127914		0.313	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding			0	22	0	G	NM_005751		91624022	1			no_errors	ENST00000359028	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	91624022	G	A	91624022	3	1	115	1	0	0	0	0	1	0	0	0	459	1174	41	3	686	3	AKAP9	7	91624022	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	9043764	91624022	67514641	54	30806											
TRIM24	8805	genome.wustl.edu	37	chr7	138189074	138189074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttgcagccaagaatgtgCagagagacacatcatagata	16	8	10	7	0	1	4	1	0	0	4	1	5	1	4	1	0	3	3	1	0	4	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr7:138189074C>T	ENST00000343526.4	+	2	619	c.404C>T	c.(403-405)gCa>gTa	p.A135V	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.A135V			O15164	TIF1A_HUMAN	tripartite motif containing 24	135					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CAAGAATGTGCAGAGAGACAC	0.353																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												0													121	118	119					7																	138189074		2203	4300	6503	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.404C>T	7.37:g.138189074C>T	ENSP00000340507:p.Ala135Val		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.A135V	ENST00000343526.4	37	c.404	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063193	0.76187	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.76839	-1.05;-1.04	5.17	5.17	0.71159	Zinc finger, RING/FYVE/PHD-type (1);	0.119930	0.56097	D	0.000023	T	0.79516	0.4459	N	0.25332	0.735	0.41527	D	0.988438	P;D	0.65815	0.457;0.995	B;D	0.66196	0.379;0.942	T	0.73458	-0.3976	10	0.12430	T	0.62	-16.4335	18.4584	0.90729	0.0:1.0:0.0:0.0	.	135;135	O15164;O15164-2	TIF1A_HUMAN;.	V	135;135;46;135;93	ENSP00000340507:A135V;ENSP00000390829:A135V	ENSP00000340507:A135V	A	+	2	0	TRIM24	137839614	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	1.155000	0.31700	2.684000	0.91462	0.650000	0.86243	GCA	TRIM24	-	NULL	ENSG00000122779		0.353	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	-	0	23	0	C	NM_015905		138189074	1	tier1	-	no_errors	ENST00000343526	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	T	T	138189074	C	T	138189074	3	4	115	1	0	0	0	0	1	0	0	0	16546	710	25	3	410	3	TRIM24	7	138189074	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	46565052	138189074	20949589	55	30807											
RNF19A	25897	genome.wustl.edu	37	chr8	101300299	101300299	+	Missense_Mutation	SNP	T	T	C	0	1	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	gatctgaacccatttgccgaTgtaaactcatgtctaaaatg	13	12	7	9	1	3	1	1	1	2	0	3	3	3	1	2	0	3	1	2	0	5	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr8:101300299T>C	ENST00000519449.1	-	3	420	c.104A>G	c.(103-105)cAt>cGt	p.H35R	RNF19A_ENST00000341084.2_Missense_Mutation_p.H35R	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	35					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)			CATTTGCCGATGTAAACTCAT	0.388																																																	0													69	69	69					8																	101300299		2203	4300	6503	SO:0001583	missense	0			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.104A>G	8.37:g.101300299T>C	ENSP00000428968:p.His35Arg		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.H35R	ENST00000519449.1	37	c.104	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700894	0.68501	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167;ENST00000522369;ENST00000432381;ENST00000517584	D;D	0.86164	-2.08;-2.08	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000002	D	0.82458	0.5041	L	0.32530	0.975	0.80722	D	1	B	0.22080	0.064	B	0.20767	0.031	T	0.79783	-0.1658	10	0.87932	D	0	.	15.7401	0.77887	0.0:0.0:0.0:1.0	.	35	Q9NV58	RN19A_HUMAN	R	35;35;35;35;35;35;4	ENSP00000428968:H35R;ENSP00000342667:H35R	ENSP00000342667:H35R	H	-	2	0	RNF19A	101369475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.065000	0.76727	2.107000	0.64212	0.528000	0.53228	CAT	RNF19A	-	NULL	ENSG00000034677		0.388	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	-	0	25	0	T	NM_015435		101300299	-1	tier1	-	no_errors	ENST00000341084	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	C	C	101300299	T	C	101300299	3	2	115	1	0	0	0	0	1	0	0	0	13515	1464	51	4	2448	4	RNF19A	8	101300299	Missense_Mutation	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09		101300299	45063723	56	30808											
COL15A1	1306	genome.wustl.edu	37	chr9	101811974	101811974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttttttcttccttcagggCccacctggcttacctggccc	3	15	7	16	0	2	0	1	0	1	0	3	0	3	0	5	3	1	1	5	3	1	6			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr9:101811974C>T	ENST00000375001.3	+	29	3219	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	932	Triple-helical region 5 (COL5).				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)				TCCTTCAGGGCCCACCTGGCT	0.557																																																	0													62	62	62					9																	101811974		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2796C>T	9.37:g.101811974C>T			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G932	ENST00000375001.3	37	c.2796	CCDS35081.1	9																																																																																			COL15A1	-	superfamily_C-type_lectin_fold	ENSG00000204291		0.557	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	-	0	57	0	C	NM_001855		101811974	1	tier1	-	no_errors	ENST00000375001	ensembl	human	known	74_37	silent	37.70	38	23	SNP	0.945	T	T	101811974	C	T	101811974	2	4	115	1	0	0	0	0	0	0	0	1	3679	726	26	3		3	COL15A1	9	101811974	Silent	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09		101811974	39401457	57	30809											
C9orf43	257169	genome.wustl.edu	37	chr9	116186500	116186500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagatgaagataaaattGgccatgatgaaaaagaatct	19	8	9	5	0	1	6	0	3	1	3	1	7	1	6	2	1	0	0	2	1	6	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr9:116186500G>T	ENST00000288462.4	+	8	1157	c.711G>T	c.(709-711)ttG>ttT	p.L237F	C9orf43_ENST00000374165.1_Missense_Mutation_p.L237F	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	237										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGATAAAATTGGCCATGATGA	0.458																																																	0													174	179	178					9																	116186500		2203	4300	6503	SO:0001583	missense	0			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.711G>T	9.37:g.116186500G>T	ENSP00000288462:p.Leu237Phe			Missense_Mutation	SNP	NULL	p.L237F	ENST00000288462.4	37	c.711	CCDS6796.1	9	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008308	0.35415	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.65178	-0.14;-0.14	4.33	2.5	0.30297	.	0.000000	0.36854	N	0.002369	T	0.64918	0.2642	L	0.34521	1.04	0.29210	N	0.874646	D	0.89917	1.0	D	0.97110	1.0	T	0.58803	-0.7572	10	0.87932	D	0	-9.6532	6.7319	0.23388	0.1988:0.0:0.8012:0.0	.	237	Q8TAL5	CI043_HUMAN	F	237	ENSP00000363280:L237F;ENSP00000288462:L237F	ENSP00000288462:L237F	L	+	3	2	C9orf43	115226321	0.999000	0.42202	0.780000	0.31762	0.253000	0.25986	1.507000	0.35758	0.768000	0.33290	0.563000	0.77884	TTG	C9orf43	-	NULL	ENSG00000157653		0.458	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	-	0	21	0	G	NM_152786		116186500	1	tier1	-	no_errors	ENST00000288462	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.867	T	T	116186500	G	T	116186500	3	4	115	1	0	0	0	0	1	0	0	0	2490	1339	47	3	737	3	C9orf43	9	116186500	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	14374526	116186500	25026931	58	30810											
DPP7	29952	genome.wustl.edu	37	chr9	140007735	140007735	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgggactctggccctcaAagtcctgggggaaagagacc	10	8	13	10	0	2	1	1	0	1	1	3	4	3	3	3	4	0	0	3	4	2	1			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr9:140007735A>T	ENST00000371579.2	-	6	630	c.626T>A	c.(625-627)tTt>tAt	p.F209Y		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	209						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)		CTGGCCCTCAAAGTCCTGGGG	0.627																																																	0													59	61	60					9																	140007735		2202	4300	6502	SO:0001583	missense	0			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.626T>A	9.37:g.140007735A>T	ENSP00000360635:p.Phe209Tyr		A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	pfam_Peptidase_S28,pfam_AB_hydrolase_1	p.F209Y	ENST00000371579.2	37	c.626	CCDS7030.1	9	.	.	.	.	.	.	.	.	.	.	A	22.0	4.227120	0.79576	.	.	ENSG00000176978	ENST00000371579	T	0.13778	2.56	5.11	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.21962	0.0529	M	0.64260	1.97	0.45852	D	0.998718	P	0.46656	0.882	P	0.51866	0.682	T	0.01102	-1.1451	10	0.30078	T	0.28	-13.7172	9.6369	0.39814	0.8247:0.1753:0.0:0.0	.	209	Q9UHL4	DPP2_HUMAN	Y	209	ENSP00000360635:F209Y	ENSP00000360635:F209Y	F	-	2	0	DPP7	139127556	0.968000	0.33430	0.793000	0.32043	0.752000	0.42762	2.207000	0.42788	1.941000	0.56285	0.459000	0.35465	TTT	DPP7	-	pfam_Peptidase_S28,pfam_AB_hydrolase_1	ENSG00000176978		0.627	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP7	HGNC	protein_coding	OTTHUMT00000055279.1	-	0	74	0	A	NM_013379		140007735	-1	tier1	-	no_errors	ENST00000371579	ensembl	human	known	74_37	missense	11.48	108	14	SNP	0.978	T	T	140007735	A	T	140007735	3	4	115	1	0	0	0	0	1	0	0	0	4745	14	1	5	884	5	DPP7	9	140007735	Missense_Mutation	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	23821235	140007735	1205696	59	30811											
ZMYND19	116225	genome.wustl.edu	37	chr9	140482271	140482271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctgcatccacttccattCgggcctgagaaggaacaagg	11	8	10	12	1	1	1	0	1	1	1	4	3	3	2	3	3	2	1	3	3	3	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr9:140482271C>T	ENST00000298585.2	-	3	342	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	39						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)		CACTTCCATTCGGGCCTGAGA	0.463																																																	0													153	169	164					9																	140482271		2203	4300	6503	SO:0001583	missense	0			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.116G>A	9.37:g.140482271C>T	ENSP00000298585:p.Arg39Gln		Q5T366	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.R39Q	ENST00000298585.2	37	c.116	CCDS7048.1	9	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449235	0.84101	.	.	ENSG00000165724	ENST00000298585	.	.	.	4.7	4.7	0.59300	.	0.057220	0.64402	D	0.000001	T	0.40694	0.1127	L	0.42245	1.32	0.58432	D	0.999999	P	0.43352	0.804	B	0.28553	0.091	T	0.48854	-0.8998	9	0.48119	T	0.1	-20.9495	16.2215	0.82262	0.0:1.0:0.0:0.0	.	39	Q96E35	ZMY19_HUMAN	Q	39	.	ENSP00000298585:R39Q	R	-	2	0	ZMYND19	139602092	1.000000	0.71417	0.994000	0.49952	0.907000	0.53573	4.717000	0.61923	2.138000	0.66242	0.655000	0.94253	CGA	ZMYND19	-	NULL	ENSG00000165724		0.463	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND19	HGNC	protein_coding	OTTHUMT00000055356.1	-	0	71	0	C	NM_138462		140482271	-1	tier1	-	no_errors	ENST00000298585	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	T	T	140482271	C	T	140482271	3	4	115	1	0	0	0	0	1	0	0	0	17758	884	31	1	583	1	ZMYND19	9	140482271	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	474536	140482271	731160	60	30812											
RNLS	55328	genome.wustl.edu	37	chr10	90045196	90045196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgagtaaatccatcccctCcacatgcaaggaaaggtttg	13	9	8	11	0	0	1	0	1	0	0	3	2	3	2	4	2	1	3	4	2	4	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr10:90045196C>A	ENST00000331772.4	-	7	966	c.944G>T	c.(943-945)gGa>gTa	p.G315V	RNLS_ENST00000371947.3_Intron|RNLS_ENST00000437752.1_Intron	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	315					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						TCCATCCCCTCCACATGCAAG	0.408																																																	0													132	114	120					10																	90045196		2203	4300	6503	SO:0001583	missense	0			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.944G>T	10.37:g.90045196C>A	ENSP00000332530:p.Gly315Val		Q9BS33|Q9NUP8	Missense_Mutation	SNP	pfam_Amino_oxidase	p.G315V	ENST00000331772.4	37	c.944	CCDS31239.1	10	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859483	0.71834	.	.	ENSG00000184719	ENST00000331772	D	0.95482	-3.72	5.7	4.78	0.61160	.	0.107658	0.64402	D	0.000006	D	0.97349	0.9133	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97530	1.0079	10	0.54805	T	0.06	.	15.3972	0.74805	0.0:0.8598:0.1402:0.0	.	315	Q5VYX0	RNLS_HUMAN	V	315	ENSP00000332530:G315V	ENSP00000332530:G315V	G	-	2	0	RNLS	90035176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.075000	0.50073	1.372000	0.46190	0.650000	0.86243	GGA	RNLS	-	NULL	ENSG00000184719		0.408	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	-	0	60	0	C	NM_018363		90045196	-1	tier1	-	no_errors	ENST00000331772	ensembl	human	known	74_37	missense	7.06	79	6	SNP	1.000	A	A	90045196	C	A	90045196	3	1	115	1	0	0	0	0	1	0	0	0	13550	855	30	3	164	3	RNLS	10	90045196	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09		90045196	45489551	61	30813											
HSPA12A	259217	genome.wustl.edu	37	chr10	118443327	118443327	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gtaaacccagctcctactgtGtcactgccgctgtacccatt	8	11	7	15	1	1	0	1	0	0	0	2	0	2	0	4	0	5	4	4	0	4	4			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr10:118443327G>T	ENST00000369209.3	-	7	914	c.810C>A	c.(808-810)gaC>gaA	p.D270E		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	270						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)		CTCCTACTGTGTCACTGCCGC	0.572																																																	0													71	87	82					10																	118443327		2077	4191	6268	SO:0001583	missense	0			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.810C>A	10.37:g.118443327G>T	ENSP00000358211:p.Asp270Glu			Missense_Mutation	SNP	NULL	p.D270E	ENST00000369209.3	37	c.810	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898687	0.52227	.	.	ENSG00000165868	ENST00000369209	T	0.40756	1.02	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	L	0.32530	0.975	0.58432	D	0.999997	B	0.06786	0.001	B	0.09377	0.004	T	0.10706	-1.0618	10	0.02654	T	1	.	15.1662	0.72828	0.0:0.1401:0.8599:0.0	.	270	O43301	HS12A_HUMAN	E	270	ENSP00000358211:D270E	ENSP00000358211:D270E	D	-	3	2	HSPA12A	118433317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.340000	0.52143	2.875000	0.98604	0.643000	0.83706	GAC	HSPA12A	-	NULL	ENSG00000165868		0.572	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1		0	49	0	G	NM_025015		118443327	-1			no_errors	ENST00000369209	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	118443327	G	T	118443327	3	4	115	1	0	0	0	0	1	0	0	0	7431	1368	48	3	1241	3	HSPA12A	10	118443327	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	28398131	118443327	17091420	62	30814											
SLC6A5	9152	genome.wustl.edu	37	chr11	20623021	20623021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gagctccgggcccggcaacgCgctgcactgtaagatccctt	7	7	12	15	4	0	1	0	0	0	1	2	2	2	1	3	2	3	5	3	2	2	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:20623021C>T	ENST00000525748.1	+	2	623	c.350C>T	c.(349-351)gCg>gTg	p.A117V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	117					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCCGGCAACGCGCTGCACTGT	0.701																																																	0													39	41	40					11																	20623021		2203	4299	6502	SO:0001583	missense	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.350C>T	11.37:g.20623021C>T	ENSP00000434364:p.Ala117Val		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.A117V	ENST00000525748.1	37	c.350	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285896	0.59867	.	.	ENSG00000165970	ENST00000525748	T	0.73789	-0.78	5.7	4.77	0.60923	.	0.654950	0.13903	N	0.354790	T	0.61148	0.2324	N	0.24115	0.695	0.30676	N	0.75283	B	0.15930	0.015	B	0.11329	0.006	T	0.59984	-0.7351	10	0.46703	T	0.11	.	9.7919	0.40710	0.0:0.7799:0.1432:0.077	.	117	Q9Y345	SC6A5_HUMAN	V	117	ENSP00000434364:A117V	ENSP00000298923:A117V	A	+	2	0	SLC6A5	20579597	0.157000	0.22836	0.986000	0.45419	0.470000	0.32858	3.882000	0.56160	1.375000	0.46248	0.462000	0.41574	GCG	SLC6A5	-	NULL	ENSG00000165970		0.701	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	-	0	41	0	C	NM_004211		20623021	1	tier1	-	no_errors	ENST00000525748	ensembl	human	known	74_37	missense	17.19	53	11	SNP	0.990	T	T	20623021	C	T	20623021	3	4	115	1	0	0	0	0	1	0	0	0	14732	768	27	1	356	1	SLC6A5	11	20623021	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09		20623021	114383495	63	30815											
SF1	7536	genome.wustl.edu	37	chr11	64533469	64533469	+	Frame_Shift_Del	DEL	C	C	-																															aggcggcggagggggaggggCcccaggcggcagaggcggct																										TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:64533469delC	ENST00000377390.3	-	13	2078	c.1741delG	c.(1741-1743)gccfs	p.A581fs	SF1_ENST00000377394.3_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000227503.9_Intron|SF1_ENST00000433274.2_Frame_Shift_Del_p.A555fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.A581fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	581	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						GGGGGAGGGGCCCCAGGCGGC	0.711																																																	0													7	10	9					11																	64533469		2010	4031	6041	SO:0001589	frameshift_variant	0			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.1741delG	11.37:g.64533469delC	ENSP00000366607:p.Ala581fs		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.A581fs	ENST00000377390.3	37	c.1741	CCDS31599.1	11																																																																																			SF1	-	NULL	ENSG00000168066		0.711	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1		0	8	0	C	NM_004630		64533469	-1	tier1		no_errors	ENST00000377390	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	1.000	-	-	64533469	C	-	64533469	7	5	115	1	0	1	0	1	0	0	0	0	14190	739	26	0	316	0	SF1	11	64533469	Frame_Shift_Del	DEL	C	TCGA-LN-A4A5-01A-21D-A27G-09	43910448	64533469	70473047	64	30816											
SPTBN2	6712	genome.wustl.edu	37	chr11	66458874	66458874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcttgtgctgcacccGcgccagggcttggcgtgccc	2	9	14	16	3	0	0	0	0	0	0	0	0	0	0	3	2	5	5	3	2	0	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:66458874G>A	ENST00000533211.1	-	27	5777	c.5446C>T	c.(5446-5448)Cgg>Tgg	p.R1816W	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1816W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1816W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1816					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGCTGCACCCGCGCCAGGGCT	0.692																																																	0													34	34	34					11																	66458874		2199	4293	6492	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5446C>T	11.37:g.66458874G>A	ENSP00000432568:p.Arg1816Trp		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1816W	ENST00000533211.1	37	c.5446	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941721	0.92526	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.20598	2.06;2.06;2.06	4.76	4.76	0.60689	.	0.069167	0.64402	D	0.000017	T	0.30759	0.0775	L	0.41027	1.25	0.54753	D	0.999985	D	0.89917	1.0	D	0.64776	0.929	T	0.02232	-1.1191	10	0.02654	T	1	.	16.7391	0.85454	0.0:0.0:1.0:0.0	.	1816	O15020	SPTN2_HUMAN	W	1816	ENSP00000432568:R1816W;ENSP00000311489:R1816W;ENSP00000433593:R1816W	ENSP00000311489:R1816W	R	-	1	2	SPTBN2	66215450	0.964000	0.33143	0.971000	0.41717	0.975000	0.68041	5.386000	0.66238	2.480000	0.83734	0.655000	0.94253	CGG	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.692	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	-	0	27	0	G	NM_006946		66458874	-1	tier1	-	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	20.63	50	13	SNP	1.000	A	A	66458874	G	A	66458874	3	1	115	1	0	0	0	0	1	0	0	0	15167	1086	38	1	1774	1	SPTBN2	11	66458874	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	1925405	66458874	68547642	65	30817											
RHOD	29984	genome.wustl.edu	37	chr11	66834221	66834221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcccagggcaagatgactAtgaccgcctgcggcccctgt	7	7	12	15	2	0	3	0	2	0	1	0	3	0	3	5	2	2	1	5	2	2	1	rs200747179		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:66834221A>G	ENST00000308831.2	+	3	318	c.233A>G	c.(232-234)tAt>tGt	p.Y78C	RHOD_ENST00000533360.1_Missense_Mutation_p.Y78C|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	78					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|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)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						CAAGATGACTATGACCGCCTG	0.592																																																	0								A	CYS/TYR	1,4399	2.1+/-5.4	0,1,2199	131	119	123		233	4.9	1	11		123	1,8589	1.2+/-3.3	0,1,4294	yes	missense	RHOD	NM_014578.3	194	0,2,6493	GG,GA,AA		0.0116,0.0227,0.0154	probably-damaging	78/211	66834221	2,12988	2200	4295	6495	SO:0001583	missense	0			D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"Rho-related protein HP1", "Rho-related GTP-binding protein RhoD"	605781	"ras homolog gene family, member D"	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.233A>G	11.37:g.66834221A>G	ENSP00000308576:p.Tyr78Cys			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Y78C	ENST00000308831.2	37	c.233	CCDS8155.1	11	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419142	0.42918	2.27E-4	1.16E-4	ENSG00000173156	ENST00000308831;ENST00000533360	D;D	0.81659	-1.52;-1.52	4.9	4.9	0.64082	Small GTP-binding protein domain (1);	0.000000	0.43579	D	0.000560	D	0.91566	0.7336	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93026	0.6444	10	0.87932	D	0	-11.6151	10.826	0.46633	1.0:0.0:0.0:0.0	.	78	O00212	RHOD_HUMAN	C	78	ENSP00000308576:Y78C;ENSP00000431167:Y78C	ENSP00000308576:Y78C	Y	+	2	0	RHOD	66590797	1.000000	0.71417	0.996000	0.52242	0.119000	0.20118	6.447000	0.73465	2.061000	0.61500	0.533000	0.62120	TAT	RHOD	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000173156		0.592	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOD	HGNC	protein_coding	OTTHUMT00000393136.1		0	24	0	A	NM_014578		66834221	1			no_errors	ENST00000308831	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	G	G	66834221	A	G	66834221	3	3	115	1	0	0	0	0	1	0	0	0	13382	449	16	4	243	4	RHOD	11	66834221	Missense_Mutation	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	375347	66834221	68172295	66	30818											
GPR83	10888	genome.wustl.edu	37	chr11	94126685	94126686	+	Frame_Shift_Ins	INS	-	-	A																															aataatttctggcagatagcINSatgtgggagtgaaaagaacg																										TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:94126685_94126686insA	ENST00000243673.2	-	3	783_784	c.612_613insT	c.(610-615)catgctfs	p.A205fs	GPR83_ENST00000539203.2_Frame_Shift_Ins_p.A163fs	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	205					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)				TGGCAGATAGCATGTGGGAGTG	0.485																																																	0																																										SO:0001589	frameshift_variant	0			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.613dupT	11.37:g.94126686_94126686dupA	ENSP00000243673:p.Ala205fs		B0M0K5|Q6NWR4|Q9P1Y8	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.A204fs	ENST00000243673.2	37	c.613_612	CCDS8297.1	11																																																																																			GPR83	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000123901		0.485	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1		0	64	0	-	NM_016540		94126686	-1	tier1		no_errors	ENST00000243673	ensembl	human	known	74_37	frame_shift_ins	20.48	66	17	INS	1.000:0.938	A	A	94126686	-	A	94126685	7	5	115	1	0	1	1	0	0	0	0	0	6739	710	25	0	666	0	GPR83	11	94126685	Frame_Shift_Ins	INS	-	TCGA-LN-A4A5-01A-21D-A27G-09	27292464	94126685	40879831	67	30819											
FAM55D	54827	genome.wustl.edu	37	chr11	114450998	114450998	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ccatgtgtttctccagacatGcccactggggattgtggatg	7	12	12	10	0	1	1	0	0	1	1	2	3	1	3	3	3	1	1	3	3	0	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:114450998G>A	ENST00000375478.3	-	5	1135	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	NXPE4_ENST00000424261.2_Missense_Mutation_p.H35Y	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	319						extracellular vesicular exosome (GO:0070062)											CTCCAGACATGCCCACTGGGG	0.413																																																	0													171	158	162					11																	114450998		1879	4119	5998	SO:0001583	missense	0			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.955C>T	11.37:g.114450998G>A	ENSP00000364627:p.His319Tyr		Q6QDB4|Q9NXP5	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.H319Y	ENST00000375478.3	37	c.955	CCDS41718.1	11	.	.	.	.	.	.	.	.	.	.	G	5.240	0.229824	0.09916	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.09350	2.99;3.15	5.31	-3.16	0.05217	.	0.402365	0.23239	N	0.050379	T	0.03871	0.0109	N	0.11154	0.105	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43426	-0.9392	10	0.02654	T	1	.	11.445	0.50118	0.713:0.0:0.287:0.0	.	319	Q6UWF7	FA55D_HUMAN	Y	35;319	ENSP00000401503:H35Y;ENSP00000364627:H319Y	ENSP00000364627:H319Y	H	-	1	0	FAM55D	113956208	0.001000	0.12720	0.020000	0.16555	0.909000	0.53808	-0.061000	0.11693	-0.413000	0.07507	-0.812000	0.03155	CAT	NXPE4	-	NULL	ENSG00000137634		0.413	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NXPE4	HGNC	protein_coding	OTTHUMT00000399179.1		0	53	0	G	NM_017678		114450998	-1			no_errors	ENST00000375478	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.001	A	A	114450998	G	A	114450998	3	1	115	1	0	0	0	0	1	0	0	0	5609	1319	46	3	687	3	FAM55D	11	114450998	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	20324313	114450998	20555518	68	30820											
APOA1	335	genome.wustl.edu	37	chr11	116706854	116706854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttctcttgcagctcgtgCagcttctggcgcgcgccctc	3	11	11	16	4	2	0	0	0	2	0	5	0	2	0	1	1	5	5	1	1	0	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:116706854C>T	ENST00000236850.4	-	4	839	c.474G>A	c.(472-474)ctG>ctA	p.L158L	AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375320.1_Silent_p.L158L|APOA1_ENST00000375329.2_Silent_p.L136L|APOA1_ENST00000359492.2_Silent_p.L158L|APOA1_ENST00000375323.1_Silent_p.L158L	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	158	10 X approximate tandem repeats.				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)		GCAGCTCGTGCAGCTTCTGGC	0.677																																																	0													27	27	27					11																	116706854		2201	4292	6493	SO:0001819	synonymous_variant	0			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.474G>A	11.37:g.116706854C>T			A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Silent	SNP	pfam_ApoA1_A4_E	p.L158	ENST00000236850.4	37	c.474	CCDS8378.1	11																																																																																			APOA1	-	pfam_ApoA1_A4_E	ENSG00000118137		0.677	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA1	HGNC	protein_coding	OTTHUMT00000106281.2		0	30	0	C	NM_000039		116706854	-1			no_errors	ENST00000236850	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.989	T	T	116706854	C	T	116706854	2	4	115	1	0	0	0	0	0	0	0	1	780	697	25	3		3	APOA1	11	116706854	Silent	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	2255856	116706854	18299662	69	30821											
OR8B3	390271	genome.wustl.edu	37	chr11	124266927	124266927	+	Silent	SNP	A	A	G	1	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	atgtaacattcagagatgacAaaaaagagaaagaaaaacag	24	5	8	4	0	1	4	1	1	0	3	1	6	1	4	0	0	2	1	0	0	7	2	rs142812088		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr11:124266927A>G	ENST00000354597.3	-	1	337	c.321T>C	c.(319-321)ttT>ttC	p.F107F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACAAAAAAGAGAA	0.388																																																	0													78	76	77					11																	124266927		2201	4299	6500	SO:0001819	synonymous_variant	0			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.321T>C	11.37:g.124266927A>G			Q6IFQ8|Q8NGH1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F107	ENST00000354597.3	37	c.321	CCDS31709.1	11																																																																																			OR8B3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196661		0.388	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B3	HGNC	protein_coding	OTTHUMT00000387291.1		0	37	0	A	NM_001005467		124266927	-1			no_errors	ENST00000354597	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.691	G	G	124266927	A	G	124266927	2	3	115	1	0	0	0	0	0	0	0	1	11267	127	5	4		4	OR8B3	11	124266927	Silent	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	7560073	124266927	10739589	70	30822											
COL2A1	1280	genome.wustl.edu	37	chr12	48391685	48391685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcaccacgatcccctctgGgtccttgttcccctgcaggt	4	12	9	16	1	2	0	1	0	1	0	5	1	5	0	6	2	1	2	6	2	0	2	rs201234519		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:48391685G>A	ENST00000380518.3	-	6	562	c.398C>T	c.(397-399)cCc>cTc	p.P133L	COL2A1_ENST00000337299.6_Missense_Mutation_p.P64L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	133					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)	ATCCCCTCTGGGTCCTTGTTC	0.552																																																	0													166	181	176					12																	48391685		2203	4300	6503	SO:0001583	missense	0			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.398C>T	12.37:g.48391685G>A	ENSP00000369889:p.Pro133Leu		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	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P133L	ENST00000380518.3	37	c.398	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357536	0.82243	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94862	-3.54;-3.54	5.09	5.09	0.68999	.	0.064498	0.64402	D	0.000008	D	0.92773	0.7702	L	0.45285	1.41	0.80722	D	1	B;B	0.30851	0.253;0.297	B;B	0.35413	0.128;0.202	D	0.91955	0.5574	10	0.72032	D	0.01	.	17.8084	0.88608	0.0:0.0:1.0:0.0	.	64;133	P02458-1;P02458	.;CO2A1_HUMAN	L	133;64;64	ENSP00000369889:P133L;ENSP00000338213:P64L	ENSP00000338213:P64L	P	-	2	0	COL2A1	46677952	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.233000	0.58651	2.820000	0.97059	0.650000	0.86243	CCC	COL2A1	-	pfam_Collagen	ENSG00000139219		0.552	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	-	0	20	0	G	NM_001844		48391685	-1	tier1	-	no_errors	ENST00000380518	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	A	A	48391685	G	A	48391685	3	1	115	1	0	0	0	0	1	0	0	0	3694	1232	43	3	4261	3	COL2A1	12	48391685	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09		48391685	85460210	71	30823											
LASS5	91012	genome.wustl.edu	37	chr12	50531578	50531578	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggccaattccatgatataaTagtgataaagcccacttgaa	16	10	7	8	0	0	3	0	3	0	0	1	3	1	3	3	1	1	0	3	1	7	6			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:50531578T>C	ENST00000317551.6	-	6	693	c.569A>G	c.(568-570)tAt>tGt	p.Y190C	CERS5_ENST00000422340.2_Missense_Mutation_p.Y132C	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	190	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CATGATATAATAGTGATAAAG	0.413																																																	0													98	96	97					12																	50531578		2203	4300	6503	SO:0001583	missense	0				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"Homeoboxes / CERS class"	23749	protein-coding gene	gene with protein product		615335	"LAG1 longevity assurance homolog 5 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 5"	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.569A>G	12.37:g.50531578T>C	ENSP00000325485:p.Tyr190Cys		B4DV54	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom	p.Y190C	ENST00000317551.6	37	c.569	CCDS8801.1	12	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931107	0.73327	.	.	ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340	D;D;D	0.88509	-2.39;-2.39;-2.39	5.14	5.14	0.70334	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.997;0.984;0.999	D	0.97111	0.9804	10	0.87932	D	0	-14.1322	15.4337	0.75125	0.0:0.0:0.0:1.0	.	132;190;109	B4DV54;Q8N5B7;F8W0U5	.;CERS5_HUMAN;.	C	109;190;132	ENSP00000447556:Y109C;ENSP00000325485:Y190C;ENSP00000389050:Y132C	ENSP00000325485:Y190C	Y	-	2	0	CERS5	48817845	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.841000	0.86834	2.291000	0.77112	0.533000	0.62120	TAT	CERS5	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom	ENSG00000139624		0.413	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERS5	HGNC	protein_coding	OTTHUMT00000406069.3	-	0	35	0	T	NM_147190		50531578	-1	tier1	-	no_errors	ENST00000317551	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	C	C	50531578	T	C	50531578	3	2	115	1	0	0	0	0	1	0	0	0	8670	1406	49	4	629	4	LASS5	12	50531578	Missense_Mutation	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09	2139893	50531578	83320317	72	30824											
ITGA7	3679	genome.wustl.edu	37	chr12	56092633	56092633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacccttgtggttggcgcGgggggctccagccacaaagc	7	6	15	13	2	0	0	0	0	0	0	1	0	1	0	3	5	3	3	3	5	1	2	rs563941470		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:56092633G>T	ENST00000555728.1	-	7	1019	c.991C>A	c.(991-993)Cgc>Agc	p.R331S	ITGA7_ENST00000394229.2_Missense_Mutation_p.R287S|ITGA7_ENST00000347027.6_Missense_Mutation_p.R287S|ITGA7_ENST00000257879.6_Missense_Mutation_p.R287S|ITGA7_ENST00000257880.7_Missense_Mutation_p.R331S|ITGA7_ENST00000452168.2_Missense_Mutation_p.R194S|ITGA7_ENST00000553804.1_Missense_Mutation_p.R291S|ITGA7_ENST00000394230.2_Missense_Mutation_p.R291S			Q13683	ITA7_HUMAN	integrin, alpha 7	331					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)	p.R291fs*42(1)|p.R287fs*42(1)		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						TGGTTGGCGCGGGGGGCTCCA	0.622																																																	2	Insertion - Frameshift(2)	lung(2)											26	25	26					12																	56092633		2201	4297	6498	SO:0001583	missense	0				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.991C>A	12.37:g.56092633G>T	ENSP00000452387:p.Arg331Ser		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R331S	ENST00000555728.1	37	c.991		12	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250909	0.80135	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728;ENST00000557257	T;T;T;T;T;T;T;T;T	0.74106	-0.81;1.04;1.04;-0.81;1.04;-0.81;1.04;1.04;1.04	4.46	3.49	0.39957	.	0.076340	0.51477	D	0.000095	D	0.85031	0.5604	M	0.83483	2.645	0.58432	D	0.999997	D;D;D;P	0.76494	0.999;0.998;0.996;0.941	D;D;D;P	0.74348	0.983;0.98;0.971;0.723	D	0.86677	0.1914	10	0.87932	D	0	.	11.6755	0.51427	0.0:0.0:0.8227:0.1773	.	194;331;291;350	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	S	291;287;287;194;331;291;287;331;331;129	ENSP00000452120:R291S;ENSP00000257879:R287S;ENSP00000343009:R287S;ENSP00000393844:R194S;ENSP00000257880:R331S;ENSP00000377777:R291S;ENSP00000377776:R287S;ENSP00000452387:R331S;ENSP00000450578:R129S	ENSP00000257879:R287S	R	-	1	0	ITGA7	54378900	0.818000	0.29161	1.000000	0.80357	0.974000	0.67602	1.077000	0.30741	2.489000	0.83994	0.491000	0.48974	CGC	ITGA7	-	smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000135424		0.622	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	-	0	34	0	G	NM_002206		56092633	-1	tier1	-	no_errors	ENST00000555728	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	T	T	56092633	G	T	56092633	3	4	115	1	0	0	0	0	1	0	0	0	7908	1116	39	2	2634	2	ITGA7	12	56092633	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	5561055	56092633	77759262	73	30825											
C12orf66	144577	genome.wustl.edu	37	chr12	64609541	64609541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgtgctgagggtgtaCatcttctcatagaagtctgc	7	15	11	8	0	4	2	1	1	4	1	5	2	4	2	0	1	3	2	0	1	3	4			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:64609541C>A	ENST00000398055.3	-	2	491	c.438G>T	c.(436-438)atG>atT	p.M146I	C12orf66_ENST00000311915.8_Missense_Mutation_p.M146I|C12orf66_ENST00000544871.1_Missense_Mutation_p.M93I	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	146										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGAGGGTGTACATCTTCTCAT	0.507																																																	0													76	73	74					12																	64609541		2001	4185	6186	SO:0001583	missense	0				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.438G>T	12.37:g.64609541C>A	ENSP00000381132:p.Met146Ile		C9JX54|Q8IYA0	Missense_Mutation	SNP	pfam_DUF2003	p.M146I	ENST00000398055.3	37	c.438	CCDS41803.1	12	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958063	0.73902	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.43688	0.94;0.94;0.94	5.95	5.95	0.96441	.	0.034571	0.85682	D	0.000000	T	0.50463	0.1617	L	0.60455	1.87	0.80722	D	1	B;P	0.38978	0.426;0.652	B;B	0.44224	0.085;0.444	T	0.33343	-0.9872	9	.	.	.	-28.9084	20.3719	0.98893	0.0:1.0:0.0:0.0	.	93;146	F5H2Q3;Q96MD2	.;CL066_HUMAN	I	146;93;146	ENSP00000311486:M146I;ENSP00000445481:M93I;ENSP00000381132:M146I	.	M	-	3	0	C12orf66	62895808	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.801000	0.69115	2.826000	0.97356	0.491000	0.48974	ATG	C12orf66	-	pfam_DUF2003	ENSG00000174206		0.507	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	-	0	61	0	C	NM_152440		64609541	-1	tier1	-	no_errors	ENST00000398055	ensembl	human	known	74_37	missense	16.05	68	13	SNP	1.000	A	A	64609541	C	A	64609541	3	1	115	1	0	0	0	0	1	0	0	0	1714	478	17	3	907	3	C12orf66	12	64609541	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	8516908	64609541	69242354	74	30826											
LEMD3	23592	genome.wustl.edu	37	chr12	65564146	65564146	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccctacagctgccgggaaaActattcggactcagaggaag	12	6	11	12	2	1	1	1	0	0	1	2	4	1	4	3	3	4	1	3	3	5	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:65564146A>T	ENST00000308330.2	+	1	796	c.770A>T	c.(769-771)aAc>aTc	p.N257I	LEMD3_ENST00000541171.1_3'UTR	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	257					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TGCCGGGAAAACTATTCGGAC	0.632																																																	0													26	28	27					12																	65564146		2203	4299	6502	SO:0001583	missense	0			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.770A>T	12.37:g.65564146A>T	ENSP00000308369:p.Asn257Ile		Q9NT47|Q9NYA5	Missense_Mutation	SNP	pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom	p.N257I	ENST00000308330.2	37	c.770	CCDS8972.1	12	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311137	0.60414	.	.	ENSG00000174106	ENST00000308330	T	0.45668	0.89	3.58	3.58	0.41010	.	0.355198	0.23868	U	0.043777	T	0.20577	0.0495	N	0.08118	0	0.33385	D	0.575353	B;B	0.33379	0.41;0.41	B;B	0.28784	0.094;0.094	T	0.28202	-1.0051	9	.	.	.	-2.4712	12.8914	0.58073	1.0:0.0:0.0:0.0	.	257;257	B4E2K7;Q9Y2U8	.;MAN1_HUMAN	I	257	ENSP00000308369:N257I	.	N	+	2	0	LEMD3	63850413	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	4.817000	0.62650	1.859000	0.53934	0.379000	0.24179	AAC	LEMD3	-	NULL	ENSG00000174106		0.632	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD3	HGNC	protein_coding	OTTHUMT00000401312.2		0	14	0	A			65564146	1			no_errors	ENST00000308330	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.985	T	T	65564146	A	T	65564146	3	4	115	1	0	0	0	0	1	0	0	0	8749	43	2	5	772	5	LEMD3	12	65564146	Missense_Mutation	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	954605	65564146	68287749	75	30827											
ANKS1B	56899	genome.wustl.edu	37	chr12	99548119	99548119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtggttctcgtactgaGgtagcccaatgctttccaac	8	12	10	11	1	2	1	1	1	1	0	4	1	3	1	2	3	4	4	2	3	4	4			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:99548119G>T	ENST00000547776.2	-	15	2473	c.2474C>A	c.(2473-2475)cCt>cAt	p.P825H	ANKS1B_ENST00000549025.2_5'UTR|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P51H|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P51H|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P51H|ANKS1B_ENST00000550693.2_Missense_Mutation_p.P51H|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P825H|ANKS1B_ENST00000547010.1_Missense_Mutation_p.P401H|ANKS1B_ENST00000547446.1_Missense_Mutation_p.P20H|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P51H|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P51H	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	825	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)		CTCGTACTGAGGTAGCCCAAT	0.498																																																	0													108	111	110					12																	99548119		2006	4169	6175	SO:0001583	missense	0			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.2474C>A	12.37:g.99548119G>T	ENSP00000449629:p.Pro825His		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.P825H	ENST00000547776.2	37	c.2474	CCDS55872.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.983|5.983	0.365335|0.365335	0.11352|0.11352	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000550778|ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549493;ENST00000547446;ENST00000546568;ENST00000332712;ENST00000546960;ENST00000552245	.|T;T;T;T;T;T;T;T;T;T	.|0.51325	.|0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	.|0.215850	.|0.42172	.|D	.|0.000744	T|T	0.66257|0.66257	0.2771|0.2771	L|L	0.59436|0.59436	1.845|1.845	0.26037|0.26037	N|N	0.981656|0.981656	.|D;B;P;D;B;B;P;P;D;P	.|0.89917	.|0.978;0.019;0.733;0.971;0.07;0.02;0.825;0.765;1.0;0.855	.|P;B;B;P;B;B;P;P;D;P	.|0.72982	.|0.791;0.04;0.4;0.814;0.04;0.04;0.518;0.529;0.979;0.667	T|T	0.59440|0.59440	-0.7454|-0.7454	5|9	.|.	.|.	.|.	-10.0979|-10.0979	18.6025|18.6025	0.91253|0.91253	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|20;51;51;51;39;51;51;401;825;51	.|F8VPM3;Q7Z6G8-4;Q7Z6G8-5;F8VZ47;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.|.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	I|H	97|51;825;401;825;400;51;51;20;51;51;51;51	.|ENSP00000448993:P51H;ENSP00000449629:P825H;ENSP00000448512:P401H;ENSP00000331381:P825H;ENSP00000447999:P51H;ENSP00000448203:P51H;ENSP00000450015:P20H;ENSP00000448205:P51H;ENSP00000332683:P51H;ENSP00000447839:P51H	.|.	L|P	-|-	1|2	0|0	ANKS1B|ANKS1B	98072250|98072250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.095000|4.095000	0.57728|0.57728	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CTC|CCT	ANKS1B	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000185046		0.498	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3		0	38	0	G	NM_020140		99548119	-1			no_errors	ENST00000329257	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	99548119	G	T	99548119	3	4	115	1	0	0	0	0	1	0	0	0	689	1000	35	3	1511	3	ANKS1B	12	99548119	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	33983973	99548119	34303776	76	30828											
CCDC62	84660	genome.wustl.edu	37	chr12	123282748	123282748	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaaggctctggactccagGtaatcttagcaagatgcaat	13	10	9	9	0	3	1	1	0	2	1	4	2	4	2	1	3	2	4	1	3	5	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr12:123282748G>T	ENST00000253079.6	+	8	1321		c.e8+1		CCDC62_ENST00000392441.4_Splice_Site|CCDC62_ENST00000392440.2_Splice_Site|CCDC62_ENST00000537566.1_Splice_Site	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62						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)		TGGACTCCAGGTAATCTTAGC	0.378																																																	0													52	52	52					12																	123282748		2203	4300	6503	SO:0001630	splice_region_variant	0				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.977+1G>T	12.37:g.123282748G>T			A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Splice_Site	SNP	-	e8+1	ENST00000253079.6	37	c.977+1	CCDS9238.1	12	.	.	.	.	.	.	.	.	.	.	.	16.09	3.025226	0.54683	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.485	0.61359	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC62	121848701	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	4.649000	0.61433	2.257000	0.74773	0.637000	0.83480	.	CCDC62	-	-	ENSG00000130783		0.378	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1		0	34	0	G	NM_032573	Intron	123282748	1			no_errors	ENST00000253079	ensembl	human	known	74_37	splice_site	5.13	37	2	SNP	1.000	T	T	123282748	G	T	123282748	5	4	115	1	0	0	0	0	0	0	1	0	2840	1275	44	3	1008	3	CCDC62	12	123282748	Splice_Site	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	23734629	123282748	10569147	77	30829											
MCF2L	23263	genome.wustl.edu	37	chr13	113724463	113724463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcagtgtctgcagctccgGcactttgagcagggcttccg	6	9	14	12	2	1	1	0	1	1	0	3	2	3	1	2	2	4	6	2	2	0	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr13:113724463G>A	ENST00000375608.3	+	10	1120	c.1062G>A	c.(1060-1062)cgG>cgA	p.R354R	MCF2L_ENST00000375597.4_Silent_p.R322R|MCF2L_ENST00000375601.3_Silent_p.R328R|MCF2L_ENST00000423482.2_Silent_p.R322R|MCF2L_ENST00000421756.1_Silent_p.R328R|MCF2L_ENST00000397030.1_Silent_p.R357R|MCF2L_ENST00000434480.2_Silent_p.R330R|MCF2L_ENST00000375604.2_Silent_p.R381R|MCF2L_ENST00000442652.2_Silent_p.R354R|MCF2L_ENST00000535094.2_Silent_p.R324R			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	354					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)				TGCAGCTCCGGCACTTTGAGC	0.647																																																	0													69	58	62					13																	113724463		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1062G>A	13.37:g.113724463G>A			A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R381	ENST00000375608.3	37	c.1143		13																																																																																			MCF2L	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000126217		0.647	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	-	0	70	0	G			113724463	1	tier1	-	no_errors	ENST00000375604	ensembl	human	known	74_37	silent	6.45	57	4	SNP	1.000	A	A	113724463	G	A	113724463	2	1	115	1	0	0	0	0	0	0	0	1	9417	1190	42	3		3	MCF2L	13	113724463	Silent	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09		113724463	1445415	78	30830											
MYH7	4625	genome.wustl.edu	37	chr14	23898239	23898239	+	Silent	SNP	A	A	G	1	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	tgcttggtctccagggtggcAttgatgcgcgtcaccatcca	6	11	12	12	2	2	1	1	1	1	0	4	1	3	1	3	3	2	2	3	3	0	2	rs397516099		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:23898239A>G	ENST00000355349.3	-	14	1494	c.1332T>C	c.(1330-1332)aaT>aaC	p.N444N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	444	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAGGGTGGCATTGATGCGCG	0.562																																																	0													133	115	121					14																	23898239		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1332T>C	14.37:g.23898239A>G			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N444	ENST00000355349.3	37	c.1332	CCDS9601.1	14																																																																																			MYH7	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000092054		0.562	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0	55	0	A	NM_000257		23898239	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	silent	23.46	62	19	SNP	0.977	G	G	23898239	A	G	23898239	2	3	115	1	0	0	0	0	0	0	0	1	10077	214	8	4		4	MYH7	14	23898239	Silent	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09		23898239	83451301	79	30831											
MYH7	4625	genome.wustl.edu	37	chr14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatccagttgaacatcCtctcatacactgccttggcc	9	11	5	16	0	2	1	2	1	1	0	5	1	4	1	5	1	3	1	5	1	2	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542																																																	0													144	127	133					14																	23898270		2203	4300	6503	SO:0001583	missense	0			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.1301G>A	14.37:g.23898270C>T	ENSP00000347507:p.Arg434Lys		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R434K	ENST00000355349.3	37	c.1301	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	c	1.349	-0.591893	0.03799	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	4.18	-2.61	0.06171	Myosin head, motor domain (2);	.	.	.	.	T	0.78419	0.4280	N	0.25825	0.765	0.21782	N	0.999541	B	0.02656	0.0	B	0.01281	0.0	T	0.59440	-0.7454	9	0.10902	T	0.67	.	11.4013	0.49873	0.0:0.3619:0.0:0.6381	.	434	P12883	MYH7_HUMAN	K	434	ENSP00000347507:R434K	ENSP00000347507:R434K	R	-	2	0	MYH7	22968110	0.983000	0.35010	0.980000	0.43619	0.520000	0.34377	0.109000	0.15417	-0.725000	0.04901	-1.662000	0.00750	AGG	MYH7	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000092054		0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0	54	0	C	NM_000257		23898270	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	22.11	74	21	SNP	0.997	T	T	23898270	C	T	23898270	3	4	115	1	0	0	0	0	1	0	0	0	10077	681	24	3	4614	3	MYH7	14	23898270	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	31	23898270	83451270	80	30832											
PNN	5411	genome.wustl.edu	37	chr14	39650489	39650489	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagggcatttactacctGagaggaaggattttcctgta	12	11	11	7	0	0	1	0	1	0	1	1	4	1	3	2	3	3	3	2	3	5	6	rs145307846	byFrequency	TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:39650489G>T	ENST00000216832.4	+	9	1643	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	526					cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TTTACTACCTGAGAGGAAGGA	0.473																																																	0													142	148	146					14																	39650489		2203	4300	6503	SO:0001587	stop_gained	0			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1576G>T	14.37:g.39650489G>T	ENSP00000216832:p.Glu526*		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Nonsense_Mutation	SNP	pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA	p.E526*	ENST00000216832.4	37	c.1576	CCDS9671.1	14	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950615	0.92660	.	.	ENSG00000100941	ENST00000216832	.	.	.	6.16	6.16	0.99307	.	0.124815	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-5.8241	11.5872	0.50925	0.0798:0.0:0.9202:0.0	.	.	.	.	X	526	.	ENSP00000216832:E526X	E	+	1	0	PNN	38720240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.997000	0.76270	2.937000	0.99478	0.650000	0.86243	GAG	PNN	-	NULL	ENSG00000100941		0.473	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	HGNC	protein_coding	OTTHUMT00000276776.2		0	38	0	G	NM_002687		39650489	1			no_errors	ENST00000216832	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	T	T	39650489	G	T	39650489	4	4	115	1	0	0	0	0	0	1	0	0	12199	1291	45	3	1610	3	PNN	14	39650489	Nonsense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	15752219	39650489	67699051	81	30833											
MAP4K5	11183	genome.wustl.edu	37	chr14	50914184	50914184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccactgtaacatgaaatttgGgtctgatgacaatccctgta	12	12	8	9	0	1	3	0	3	1	0	2	3	2	3	2	1	1	2	2	1	4	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:50914184G>T	ENST00000013125.4	-	16	1408	c.1090C>A	c.(1090-1092)Cca>Aca	p.P364T	RP11-406H23.2_ENST00000555257.1_lincRNA	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	364					activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ATGAAATTTGGGTCTGATGAC	0.279																																																	0													36	34	35					14																	50914184		1773	4029	5802	SO:0001583	missense	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1090C>A	14.37:g.50914184G>T	ENSP00000013125:p.Pro364Thr		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.P364T	ENST00000013125.4	37	c.1090		14	.	.	.	.	.	.	.	.	.	.	G	7.318	0.616287	0.14129	.	.	ENSG00000012983	ENST00000013125	T	0.71461	-0.57	5.32	3.38	0.38709	Protein kinase-like domain (1);	0.208893	0.40554	N	0.001077	T	0.50752	0.1634	N	0.22421	0.69	0.30781	N	0.741991	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45338	-0.9268	10	0.20519	T	0.43	.	7.6167	0.28163	0.0893:0.0:0.6937:0.217	.	38;364;364	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	T	364	ENSP00000013125:P364T	ENSP00000013125:P364T	P	-	1	0	MAP4K5	49983934	0.997000	0.39634	1.000000	0.80357	0.756000	0.42949	1.159000	0.31749	1.371000	0.46172	0.455000	0.32223	CCA	MAP4K5	-	superfamily_Kinase-like_dom	ENSG00000012983		0.279	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	-	0	71	0	G	NM_006575		50914184	-1	tier1	-	no_errors	ENST00000013125	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	50914184	G	T	50914184	3	4	115	1	0	0	0	0	1	0	0	0	9301	1232	43	3	1518	3	MAP4K5	14	50914184	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	11263695	50914184	56435356	82	30834											
SYNE2	23224	genome.wustl.edu	37	chr14	64520206	64520206	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcaaaatgaaaaggacaattGtgaagcatttcaggagcaag	18	8	10	5	0	2	2	2	2	0	0	2	4	2	4	0	2	2	2	0	2	7	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:64520206G>T	ENST00000344113.4	+	48	9787	c.9575G>T	c.(9574-9576)tGt>tTt	p.C3192F	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.C3225F|SYNE2_ENST00000358025.3_Missense_Mutation_p.C3192F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3192					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)		AAGGACAATTGTGAAGCATTT	0.323																																																	0													74	69	71					14																	64520206		1826	4089	5915	SO:0001583	missense	0			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.9575G>T	14.37:g.64520206G>T	ENSP00000341781:p.Cys3192Phe		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.C3192F	ENST00000344113.4	37	c.9575	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457984	0.26161	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56941	0.8;0.8;0.43	5.39	4.49	0.54785	.	0.187739	0.38778	N	0.001577	T	0.41858	0.1177	L	0.27053	0.805	0.80722	D	1	P;P	0.39782	0.561;0.688	B;B	0.43103	0.231;0.408	T	0.15407	-1.0438	10	0.22706	T	0.39	.	11.8117	0.52185	0.0809:0.0:0.9191:0.0	.	3192;3192	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	F	3192;3192;3225;3225	ENSP00000350719:C3192F;ENSP00000341781:C3192F;ENSP00000452570:C3225F	ENSP00000261678:C3225F	C	+	2	0	SYNE2	63589959	1.000000	0.71417	0.777000	0.31699	0.520000	0.34377	3.745000	0.55119	2.530000	0.85305	0.462000	0.41574	TGT	SYNE2	-	NULL	ENSG00000054654		0.323	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	50	0	G	NM_182914		64520206	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.992	T	T	64520206	G	T	64520206	3	4	115	1	0	0	0	0	1	0	0	0	15493	1377	48	3	9761	3	SYNE2	14	64520206	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	13606022	64520206	42829334	83	30835											
ESR2	2100	genome.wustl.edu	37	chr14	64746800	64746800	+	Missense_Mutation	SNP	T	T	C	0	1	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	agacagcgcagaagtgagcaTccctctttgaacctggacca	12	7	10	12	1	1	4	0	2	1	2	2	5	2	5	3	1	3	2	3	1	2	1			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:64746800T>C	ENST00000341099.4	-	3	851	c.434A>G	c.(433-435)gAt>gGt	p.D145G	ESR2_ENST00000353772.3_Missense_Mutation_p.D145G|ESR2_ENST00000554572.1_Missense_Mutation_p.D145G|ESR2_ENST00000553796.1_Missense_Mutation_p.D145G|ESR2_ENST00000555278.1_Missense_Mutation_p.D145G|ESR2_ENST00000557772.1_Missense_Mutation_p.D145G|ESR2_ENST00000358599.5_Missense_Mutation_p.D145G|ESR2_ENST00000542956.1_Missense_Mutation_p.D145G|ESR2_ENST00000267525.6_Missense_Mutation_p.D145G|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000357782.2_Missense_Mutation_p.D145G	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	145	Modulating.				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)	GAAGTGAGCATCCCTCTTTGA	0.473																																																	0													244	220	228					14																	64746800		2203	4300	6503	SO:0001583	missense	0			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.434A>G	14.37:g.64746800T>C	ENSP00000343925:p.Asp145Gly		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D145G	ENST00000341099.4	37	c.434	CCDS9762.1	14	.	.	.	.	.	.	.	.	.	.	T	18.44	3.623865	0.66901	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.90788	-2.72;-2.67;-2.65;-2.65;-2.65;-2.73;-2.72;-2.73;-2.72;-2.57;-2.33	5.56	5.56	0.83823	Zinc finger, NHR/GATA-type (1);	0.049526	0.85682	D	0.000000	D	0.92691	0.7677	L	0.41573	1.285	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.974;0.968;0.968;0.985	D;P;P;P;P	0.67900	0.954;0.642;0.712;0.851;0.824	D	0.93623	0.6949	10	0.87932	D	0	.	15.708	0.77602	0.0:0.0:0.0:1.0	.	145;145;145;145;145	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	G	145	ENSP00000452485:D145G;ENSP00000441792:D145G;ENSP00000450699:D145G;ENSP00000335551:D145G;ENSP00000351412:D145G;ENSP00000450488:D145G;ENSP00000452426:D145G;ENSP00000350427:D145G;ENSP00000451582:D145G;ENSP00000343925:D145G;ENSP00000267525:D145G	ENSP00000267525:D145G	D	-	2	0	ESR2	63816553	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	4.904000	0.63279	2.120000	0.65058	0.455000	0.32223	GAT	ESR2	-	NULL	ENSG00000140009		0.473	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR2	HGNC	protein_coding	OTTHUMT00000280621.1	-	0	52	0	T			64746800	-1	tier1	-	no_errors	ENST00000341099	ensembl	human	known	74_37	missense	12.68	62	9	SNP	1.000	C	C	64746800	T	C	64746800	3	2	115	1	0	0	0	0	1	0	0	0	5273	1435	50	4	1272	4	ESR2	14	64746800	Missense_Mutation	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09	226594	64746800	42602740	84	30836											
RCOR1	23186	genome.wustl.edu	37	chr14	103180893	103180893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggctgtttctgccaatgCcactgctgctaccacggtgc	6	10	12	13	1	1	0	0	0	1	0	1	1	1	1	3	3	6	4	3	3	2	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr14:103180893C>T	ENST00000570597.1	+	8	983	c.983C>T	c.(982-984)gCc>gTc	p.A328V	RCOR1_ENST00000262241.6_Missense_Mutation_p.A331V			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	328	Interaction with KDM1A.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TCTGCCAATGCCACTGCTGCT	0.403																																																	0													105	94	97					14																	103180893		2203	4300	6503	SO:0001583	missense	0			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.983C>T	14.37:g.103180893C>T	ENSP00000459789:p.Ala328Val		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1	p.A331V	ENST00000570597.1	37	c.992		14	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186809	0.78789	.	.	ENSG00000089902	ENST00000262241	.	.	.	6.07	6.07	0.98685	.	0.104980	0.64402	D	0.000005	T	0.42720	0.1215	L	0.40543	1.245	0.58432	D	0.999992	P	0.46621	0.881	B	0.29176	0.099	T	0.48581	-0.9023	9	0.51188	T	0.08	-16.9987	20.6439	0.99570	0.0:1.0:0.0:0.0	.	328	Q9UKL0	RCOR1_HUMAN	V	328	.	ENSP00000262241:A328V	A	+	2	0	RCOR1	102250646	0.999000	0.42202	0.994000	0.49952	0.978000	0.69477	5.614000	0.67695	2.884000	0.98904	0.655000	0.94253	GCC	RCOR1	-	NULL	ENSG00000089902		0.403	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	HGNC	protein_coding			0	18	0	C	NM_015156		103180893	1			no_errors	ENST00000262241	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	103180893	C	T	103180893	3	4	115	1	0	0	0	0	1	0	0	0	13227	739	26	3	1013	3	RCOR1	14	103180893	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	38434093	103180893	4168647	85	30837											
LTK	4058	genome.wustl.edu	37	chr15	41797421	41797421	+	Frame_Shift_Del	DEL	T	T	-																															ctaacctgtggatgaagtgaTtttcctccaggtagtggcag																										TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr15:41797421delT	ENST00000263800.6	-	15	2006	c.1910delA	c.(1909-1911)aatfs	p.N637fs	LTK_ENST00000453182.2_Frame_Shift_Del_p.N507fs|LTK_ENST00000355166.5_Frame_Shift_Del_p.N576fs|LTK_ENST00000561619.1_Frame_Shift_Del_p.N335fs	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GATGAAGTGATTTTCCTCCAG	0.597										TSP Lung(18;0.14)																																							0													68	61	63					15																	41797421		2203	4300	6503	SO:0001589	frameshift_variant	0			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1910delA	15.37:g.41797421delT	ENSP00000263800:p.Asn637fs		A6NNJ8|B4DL89|E9PFX4	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N637fs	ENST00000263800.6	37	c.1910	CCDS10077.1	15																																																																																			LTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000062524		0.597	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2		0	40	0	T			41797421	-1	tier1		no_errors	ENST00000263800	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	1.000	-	-	41797421	T	-	41797421	7	5	115	1	0	1	0	1	0	0	0	0	9115	1493	52	0	708	0	LTK	15	41797421	Frame_Shift_Del	DEL	T	TCGA-LN-A4A5-01A-21D-A27G-09		41797421	60733971	86	30838											
BNIP2	663	genome.wustl.edu	37	chr15	59970196	59970196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcctgaacatacgccagCgtcgtccatcttctttttcc	8	13	5	15	3	2	1	0	1	2	0	6	1	5	1	4	0	3	0	4	0	3	4	rs144319954		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr15:59970196C>T	ENST00000607373.1	-	5	588	c.386G>A	c.(385-387)cGc>cAc	p.R129H	BNIP2_ENST00000267859.3_Missense_Mutation_p.R250H|BNIP2_ENST00000415213.2_Missense_Mutation_p.R191H	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	129					apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CATACGCCAGCGTCGTCCATC	0.418																																					Ovarian(174;1936 1978 6671 8240 38212)												0								C	HIS/ARG	0,4380		0,0,2190	158	142	147		749	5.7	1	15	dbSNP_134	147	1,8579	1.2+/-3.3	0,1,4289	no	missense	BNIP2	NM_004330.2	29	0,1,6479	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging	250/436	59970196	1,12959	2190	4290	6480	SO:0001583	missense	0			U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"BCL2/adenovirus E1B 19kD-interacting protein 2"			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.386G>A	15.37:g.59970196C>T	ENSP00000475320:p.Arg129His		B4DS94	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.R250H	ENST00000607373.1	37	c.749		15	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840316	0.91117	0.0	1.17E-4	ENSG00000140299	ENST00000267859;ENST00000415213;ENST00000439052	T;T;T	0.56103	1.1;1.11;0.48	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	N	0.25647	0.755	0.80722	D	1	P;P	0.40083	0.702;0.653	B;B	0.37780	0.258;0.254	T	0.23048	-1.0199	9	.	.	.	-2.2927	19.8753	0.96867	0.0:1.0:0.0:0.0	.	129;191	Q12982;Q12982-2	BNIP2_HUMAN;.	H	250;191;7	ENSP00000267859:R250H;ENSP00000412767:R191H;ENSP00000393644:R7H	.	R	-	2	0	BNIP2	57757488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.453000	0.60061	2.711000	0.92665	0.655000	0.94253	CGC	BNIP2	-	pfam_Bcl2-/adenovirus-E1B	ENSG00000140299		0.418	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	BNIP2	HGNC	protein_coding	OTTHUMT00000470740.1	-	0	34	0	C	NM_004330		59970196	-1	tier1	rs144319954	no_errors	ENST00000267859	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	T	T	59970196	C	T	59970196	3	4	115	1	0	0	0	0	1	0	0	0	1479	768	27	1	582	1	BNIP2	15	59970196	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	18172775	59970196	42561196	87	30839											
TLN2	83660	genome.wustl.edu	37	chr15	63042648	63042648	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgaacctgttagtgacctCtcttactttgactgcattga	10	15	7	9	0	1	4	0	4	1	0	2	4	1	4	2	0	3	2	2	0	4	4			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr15:63042648C>G	ENST00000561311.1	+	33	4397	c.4167C>G	c.(4165-4167)ctC>ctG	p.L1389L	TLN2_ENST00000306829.6_Silent_p.L1389L			Q9Y4G6	TLN2_HUMAN	talin 2	1389					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						TTAGTGACCTCTCTTACTTTG	0.418																																																	0													265	240	248					15																	63042648		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4167C>G	15.37:g.63042648C>G			A6NLB8	Silent	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.L1389	ENST00000561311.1	37	c.4167	CCDS32261.1	15																																																																																			TLN2	-	NULL	ENSG00000171914		0.418	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0	85	0	C			63042648	1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	silent	15.91	74	14	SNP	1.000	G	G	63042648	C	G	63042648	2	3	115	1	0	0	0	0	0	0	0	1	15995	900	32	5		5	TLN2	15	63042648	Silent	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	3072452	63042648	39488744	88	30840											
UMOD	7369	genome.wustl.edu	37	chr16	20360484	20360484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaggtgcacgtcgtaaCggcctcatcctccgtgcagg	7	8	12	14	4	1	1	1	1	0	0	4	1	3	1	3	3	3	3	3	3	1	1			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr16:20360484C>T	ENST00000570689.1	-	3	285	c.139G>A	c.(139-141)Gtt>Att	p.V47I	UMOD_ENST00000396138.4_Missense_Mutation_p.V96I|UMOD_ENST00000302509.4_Missense_Mutation_p.V47I|UMOD_ENST00000396134.2_Missense_Mutation_p.V80I|UMOD_ENST00000424589.1_Missense_Mutation_p.V80I|UMOD_ENST00000396142.2_Missense_Mutation_p.V47I			P07911	UROM_HUMAN	uromodulin	47	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	p.V47F(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGTCGTAACGGCCTCATCC	0.612																																																	2	Substitution - Missense(2)	lung(2)											55	48	51					16																	20360484		2203	4300	6503	SO:0001583	missense	0			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.139G>A	16.37:g.20360484C>T	ENSP00000460548:p.Val47Ile		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.V80I	ENST00000570689.1	37	c.238	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	c	5.160	0.215047	0.09810	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.37	3.15	0.36227	EGF domain, merozoite surface protein 1-like (1);Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.148560	0.06524	N	0.740189	D	0.83257	0.5215	L	0.46157	1.445	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.66344	-0.5947	10	0.19147	T	0.46	-15.7309	3.9935	0.09548	0.2332:0.575:0.0:0.1918	.	80;47	E9PEA4;P07911	.;UROM_HUMAN	I	47;80;80;47;47;47	ENSP00000379438:V80I;ENSP00000416346:V80I;ENSP00000306279:V47I;ENSP00000379446:V47I	ENSP00000306279:V47I	V	-	1	0	UMOD	20267985	0.000000	0.05858	0.010000	0.14722	0.003000	0.03518	-0.019000	0.12546	1.398000	0.46701	0.651000	0.88453	GTT	UMOD	-	superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000169344		0.612	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	-	0	46	0	C			20360484	-1	tier1	-	no_errors	ENST00000424589	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.001	T	T	20360484	C	T	20360484	3	4	115	1	0	0	0	0	1	0	0	0	17028	536	19	1	1819	1	UMOD	16	20360484	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09		20360484	69994269	89	30841											
CENPT	80152	genome.wustl.edu	37	chr16	67865492	67865492	+	Missense_Mutation	SNP	A	A	G	1	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	gcagcacctggtgagggaagAggcatcagcattcccttgag	10	7	14	10	0	1	3	1	2	0	1	2	4	2	4	2	3	2	4	2	3	1	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr16:67865492A>G	ENST00000562787.1	-	9	1095	c.547T>C	c.(547-549)Tct>Cct	p.S183P	CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Missense_Mutation_p.S183P|CENPT_ENST00000445712.2_Missense_Mutation_p.S80P|CENPT_ENST00000564817.1_Missense_Mutation_p.S183P|CENPT_ENST00000219172.3_Missense_Mutation_p.S183P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	183	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GTGAGGGAAGAGGCATCAGCA	0.557																																																	0													84	91	89					16																	67865492		2012	4175	6187	SO:0001583	missense	0			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.547T>C	16.37:g.67865492A>G	ENSP00000457810:p.Ser183Pro		Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	superfamily_Histone-fold	p.S183P	ENST00000562787.1	37	c.547	CCDS42182.1	16	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752452	0.69533	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	T;T;T	0.60672	0.17;0.17;0.17	5.87	3.66	0.41972	.	0.334600	0.29737	N	0.011321	T	0.54791	0.1880	M	0.74881	2.28	0.09310	N	0.999991	B;B;B	0.29115	0.197;0.233;0.197	B;B;B	0.30716	0.119;0.104;0.119	T	0.51419	-0.8708	10	0.46703	T	0.11	-6.8478	7.5152	0.27596	0.8324:0.0:0.1676:0.0	.	80;183;183	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	P	183;183;80	ENSP00000400140:S183P;ENSP00000219172:S183P;ENSP00000411594:S80P	ENSP00000219172:S183P	S	-	1	0	CENPT	66422993	0.200000	0.23398	0.874000	0.34290	0.687000	0.40016	0.832000	0.27490	0.583000	0.29574	0.533000	0.62120	TCT	CENPT	-	NULL	ENSG00000102901		0.557	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPT	HGNC	protein_coding	OTTHUMT00000422020.1		0	16	0	A	NM_025082		67865492	-1			no_errors	ENST00000219172	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.098	G	G	67865492	A	G	67865492	3	3	115	1	0	0	0	0	1	0	0	0	3249	304	11	4	1170	4	CENPT	16	67865492	Missense_Mutation	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	47505008	67865492	22489261	90	30842											
ADAT1	23536	genome.wustl.edu	37	chr16	75637047	75637047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctggaatgatctgaagaGttccactttgctgatttggg	8	15	11	7	0	2	4	0	3	2	1	3	5	3	5	1	2	1	2	1	2	2	4			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr16:75637047G>T	ENST00000307921.3	-	10	1457	c.1312C>A	c.(1312-1314)Ctc>Atc	p.L438I	ADAT1_ENST00000568478.1_5'Flank|RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	438	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GATCTGAAGAGTTCCACTTTG	0.418																																																	0													278	264	269					16																	75637047		2198	4300	6498	SO:0001583	missense	0			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1312C>A	16.37:g.75637047G>T	ENSP00000310015:p.Leu438Ile		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	p.L438I	ENST00000307921.3	37	c.1312	CCDS10922.1	16	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480687	0.63849	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.95690	-3.78	5.5	4.55	0.56014	Adenosine deaminase/editase (3);	0.120339	0.56097	D	0.000031	D	0.95592	0.8567	M	0.63843	1.955	0.48901	D	0.999727	P	0.51537	0.946	P	0.56514	0.8	D	0.94200	0.7449	10	0.39692	T	0.17	-6.7155	8.8454	0.35168	0.1712:0.0:0.8288:0.0	.	438	Q9BUB4	ADAT1_HUMAN	I	438;409	ENSP00000310015:L438I	ENSP00000310015:L438I	L	-	1	0	ADAT1	74194548	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.228000	0.32588	1.453000	0.47775	0.650000	0.86243	CTC	ADAT1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000065457		0.418	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAT1	HGNC	protein_coding	OTTHUMT00000269027.1	-	0	44	0	G	NM_012091		75637047	-1	tier1	-	no_errors	ENST00000307921	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	75637047	G	T	75637047	3	4	115	1	0	0	0	0	1	0	0	0	284	1029	36	3	204	3	ADAT1	16	75637047	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	7771555	75637047	14717706	91	30843											
FOXL1	2300	genome.wustl.edu	37	chr16	86613176	86613176	+	Frame_Shift_Del	DEL	G	G	-																															cttcaggggacgaactcctaGggggtgccaagcctgggccc																										TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr16:86613176delG	ENST00000320241.3	+	1	1062	c.847delG	c.(847-849)gggfs	p.G284fs		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	284					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						CGAACTCCTAGGGGGTGCCAA	0.662																																					NSCLC(163;308 2020 10889 11476 18208)												0													17	20	19					16																	86613176		2197	4299	6496	SO:0001589	frameshift_variant	0			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.847delG	16.37:g.86613176delG	ENSP00000326272:p.Gly284fs		Q17RR1|Q9H242	Frame_Shift_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G284fs	ENST00000320241.3	37	c.847	CCDS10959.1	16																																																																																			FOXL1	-	NULL	ENSG00000176678		0.662	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXL1	HGNC	protein_coding	OTTHUMT00000269105.2		0	41	0	G	NM_005250		86613176	1	tier1		no_errors	ENST00000320241	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	0.361	-	-	86613176	G	-	86613176	7	5	115	1	0	1	0	1	0	0	0	0	6040	1000	35	0	849	0	FOXL1	16	86613176	Frame_Shift_Del	DEL	G	TCGA-LN-A4A5-01A-21D-A27G-09	10976129	86613176	3741577	92	30844											
RNF166	115992	genome.wustl.edu	37	chr16	88766056	88766056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aggctgtgatgtgggcaccaCggggacgaacttggggcagt	8	7	18	8	2	0	1	0	1	0	0	0	3	0	2	1	6	1	3	1	6	1	1	rs552205763		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr16:88766056C>T	ENST00000312838.4	-	3	492	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	RNF166_ENST00000567844.1_Missense_Mutation_p.V52M|RNF166_ENST00000537718.2_Missense_Mutation_p.V24M|RNF166_ENST00000568683.1_Missense_Mutation_p.V24M|RP5-1142A6.5_ENST00000561699.1_RNA|RNF166_ENST00000562499.1_5'Flank|RNF166_ENST00000541206.2_Missense_Mutation_p.V24M	NM_178841.3	NP_849163.1	Q96A37	RN166_HUMAN	ring finger protein 166	133							zinc ion binding (GO:0008270)			endometrium(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GTGGGCACCACGGGGACGAAC	0.617													C|||	1	0.000199681	0	0	5008	,	,		20064	0.001		0	False		,,,				2504	0																0													123	96	105					16																	88766056		2197	4299	6496	SO:0001583	missense	0			AK057106	CCDS10969.1, CCDS54056.1, CCDS54057.1	16q24.3	2013-01-09			ENSG00000158717	ENSG00000158717		"RING-type (C3HC4) zinc fingers"	28856	protein-coding gene	gene with protein product						12477932	Standard	NM_178841		Approved	MGC2647, MGC14381	uc002flk.3	Q96A37	OTTHUMG00000137863	ENST00000312838.4:c.397G>A	16.37:g.88766056C>T	ENSP00000326095:p.Val133Met		B3KQ03|D3DX75|H3BTU8|Q96DM0	Missense_Mutation	SNP	pfam_Di19_Zn_binding,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V133M	ENST00000312838.4	37	c.397	CCDS10969.1	16	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622661	0.87460	.	.	ENSG00000158717	ENST00000312838;ENST00000537718;ENST00000541206	T	0.16743	2.32	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	P	0.62885	0.908	T	0.02358	-1.1171	10	0.36615	T	0.2	-10.7722	16.9747	0.86310	0.0:1.0:0.0:0.0	.	133	Q96A37	RN166_HUMAN	M	133;52;24	ENSP00000326095:V133M	ENSP00000326095:V133M	V	-	1	0	RNF166	87293557	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	6.893000	0.75649	2.115000	0.64714	0.313000	0.20887	GTG	RNF166	-	NULL	ENSG00000158717		0.617	RNF166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF166	HGNC	protein_coding	OTTHUMT00000269544.1	-	0	36	0	C	NM_178841		88766056	-1	tier1	-	no_errors	ENST00000312838	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	88766056	C	T	88766056	3	4	115	1	0	0	0	0	1	0	0	0	13502	536	19	1	332	1	RNF166	16	88766056	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	2152880	88766056	1588697	93	30845											
TP53	7157	genome.wustl.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	0	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	242	0	C	NM_000546		7577538	-1	tier1	rs11540652	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	54.18	214	253	SNP	1.000	T	T	7577538	C	T	7577538	3	4	115	1	0	0	0	0	1	0	0	0	16429	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09		7577538	73617672	94	30846											
MYH4	4622	genome.wustl.edu	37	chr17	10350382	10350382	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	catccagaagctcttgctctGccattttcctgcctctctca	6	14	5	16	0	4	1	1	0	3	1	7	1	6	1	4	0	4	2	4	0	1	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:10350382G>T	ENST00000255381.2	-	35	5227	c.5117C>A	c.(5116-5118)gCa>gAa	p.A1706E	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	1706					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						CTCTTGCTCTGCCATTTTCCT	0.507																																																	0													158	127	137					17																	10350382		2203	4300	6503	SO:0001583	missense	0				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.5117C>A	17.37:g.10350382G>T	ENSP00000255381:p.Ala1706Glu			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1706E	ENST00000255381.2	37	c.5117	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647810	0.87958	.	.	ENSG00000141048	ENST00000255381	D	0.84146	-1.81	5.29	4.31	0.51392	Myosin tail (1);	0.000000	0.37178	U	0.002219	D	0.94059	0.8096	H	0.95816	3.725	0.58432	D	0.999996	D	0.54207	0.965	D	0.64687	0.928	D	0.95550	0.8620	10	0.87932	D	0	.	14.4126	0.67124	0.0718:0.0:0.9282:0.0	.	1706	Q9Y623	MYH4_HUMAN	E	1706	ENSP00000255381:A1706E	ENSP00000255381:A1706E	A	-	2	0	MYH4	10291107	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.796000	0.99103	1.374000	0.46228	0.563000	0.77884	GCA	MYH4	-	pfam_Myosin_tail	ENSG00000264424		0.507	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	-	0	50	0	G	NM_017533		10350382	-1	tier1	-	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	12.50	63	9	SNP	1.000	T	T	10350382	G	T	10350382	3	4	115	1	0	0	0	0	1	0	0	0	10075	1319	46	3	726	3	MYH4	17	10350382	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	2772844	10350382	70844828	95	30847											
ACACA	31	genome.wustl.edu	37	chr17	35518738	35518738	+	Missense_Mutation	SNP	T	T	C	0	1	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	cccaggccacatgaaacataTggcgaatttcttctgccagt	11	10	8	12	1	2	1	0	1	2	0	2	2	2	1	3	2	2	0	3	2	3	3	rs367676848		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:35518738T>C	ENST00000394406.2	-	42	5385	c.5195A>G	c.(5194-5196)cAt>cGt	p.H1732R	ACACA_ENST00000335166.5_Missense_Mutation_p.H1654R|ACACA_ENST00000353139.5_Missense_Mutation_p.H1769R|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000360679.3_Missense_Mutation_p.H1674R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1732	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATGAAACATATGGCGAATTTC	0.453																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0								T	ARG/HIS,ARG/HIS,ARG/HIS,ARG/HIS,ARG/HIS	1,4405	2.1+/-5.4	0,1,2202	186	147	160		5195,4961,5021,5195,5306	5	1	17		160	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ACACA	NM_198839.1,NM_198838.1,NM_198837.1,NM_198836.1,NM_198834.1	29,29,29,29,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	1732/2347,1654/2269,1674/2289,1732/2347,1769/2384	35518738	1,13005	2203	4300	6503	SO:0001583	missense	0			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.5195A>G	17.37:g.35518738T>C	ENSP00000377928:p.His1732Arg		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.H1769R	ENST00000394406.2	37	c.5306	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689209	0.48097	2.27E-4	0.0	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.01	5.01	0.66863	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	L	0.49455	1.56	0.80722	D	1	B;B;B;B	0.33280	0.066;0.405;0.013;0.01	B;B;B;B	0.31547	0.021;0.132;0.005;0.003	D	0.94012	0.7285	10	0.35671	T	0.21	-16.4961	15.0301	0.71698	0.0:0.0:0.0:1.0	.	431;1769;1732;1674	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	R	1769;1674;1732;1756;1654;431	ENSP00000344789:H1769R;ENSP00000353898:H1674R;ENSP00000377928:H1732R;ENSP00000335323:H1654R	ENSP00000335323:H1654R	H	-	2	0	ACACA	32592851	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	2.014000	0.59158	0.383000	0.25322	CAT	ACACA	-	pfam_Carboxyl_trans,pfscan_COA_CT_N	ENSG00000132142		0.453	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0	40	0	T	NM_198836		35518738	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	missense	8.16	44	4	SNP	1.000	C	C	35518738	T	C	35518738	3	2	115	1	0	0	0	0	1	0	0	0	106	1464	51	4	1905	4	ACACA	17	35518738	Missense_Mutation	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09	25168356	35518738	45676472	96	30848											
GSDMA	284110	genome.wustl.edu	37	chr17	38122104	38122104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggggcccggtacgtccGcaccgactacacgctgctgg	5	6	15	15	5	0	0	0	0	0	0	1	1	1	0	3	5	3	4	3	5	2	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:38122104G>T	ENST00000301659.4	+	2	282	c.164G>T	c.(163-165)cGc>cTc	p.R55L		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	55					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CGGTACGTCCGCACCGACTAC	0.617																																																	0													27	31	29					17																	38122104		1991	4146	6137	SO:0001583	missense	0			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.164G>T	17.37:g.38122104G>T	ENSP00000301659:p.Arg55Leu		Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	pfam_Gasdermin	p.R55L	ENST00000301659.4	37	c.164	CCDS45669.1	17	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664646	0.29604	.	.	ENSG00000167914	ENST00000301659	T	0.21734	1.99	5.51	-4.0	0.04057	.	0.770342	0.12083	N	0.501103	T	0.16727	0.0402	M	0.65975	2.015	0.21627	N	0.999616	B	0.28470	0.213	B	0.32864	0.154	T	0.41466	-0.9507	10	0.10636	T	0.68	-0.5448	5.3222	0.15887	0.4446:0.2635:0.2919:0.0	.	55	Q96QA5	GSDMA_HUMAN	L	55	ENSP00000301659:R55L	ENSP00000301659:R55L	R	+	2	0	GSDMA	35375630	0.085000	0.21516	0.070000	0.20053	0.810000	0.45777	-0.337000	0.07852	-0.576000	0.05974	0.462000	0.41574	CGC	GSDMA	-	pfam_Gasdermin	ENSG00000167914		0.617	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMA	HGNC	protein_coding	OTTHUMT00000446847.1	-	0	37	0	G	NM_178171		38122104	1	tier1	-	no_errors	ENST00000301659	ensembl	human	known	74_37	missense	19.15	38	9	SNP	0.242	T	T	38122104	G	T	38122104	3	4	115	1	0	0	0	0	1	0	0	0	6843	1087	38	2	166	2	GSDMA	17	38122104	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	2603366	38122104	43073106	97	30849											
NFE2L1	4779	genome.wustl.edu	37	chr17	46135808	46135808	+	Missense_Mutation	SNP	T	T	C	0	1	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	ggggggctgcagccaggactTcttactcttcagccccgagg	6	8	14	13	1	3	0	1	0	2	0	3	2	3	1	3	5	4	2	3	5	1	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:46135808T>C	ENST00000362042.3	+	6	1740	c.1124T>C	c.(1123-1125)tTc>tCc	p.F375S	NFE2L1_ENST00000536222.1_Missense_Mutation_p.F219S|NFE2L1_ENST00000357480.5_Missense_Mutation_p.F345S|NFE2L1_ENST00000582155.1_Missense_Mutation_p.F187S|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000585291.1_Missense_Mutation_p.F345S|NFE2L1_ENST00000583378.1_Missense_Mutation_p.F176S|NFE2L1_ENST00000361665.3_Missense_Mutation_p.F364S	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	375					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)	p.F375C(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCCAGGACTTCTTACTCTTC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											96	99	98					17																	46135808		2203	4300	6503	SO:0001583	missense	0			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.1124T>C	17.37:g.46135808T>C	ENSP00000354855:p.Phe375Ser		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.F375S	ENST00000362042.3	37	c.1124	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	T	9.462	1.093467	0.20471	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	D;T	0.94828	-3.53;3.15	5.65	4.51	0.55191	.	0.338850	0.35677	N	0.003049	D	0.91264	0.7246	L	0.60455	1.87	0.39898	D	0.973868	P;P;P;P	0.45283	0.855;0.851;0.822;0.807	B;B;B;B	0.41510	0.359;0.253;0.269;0.256	D	0.89804	0.3977	10	0.40728	T	0.16	-15.4232	6.3166	0.21194	0.0:0.0812:0.1615:0.7572	.	219;187;345;375	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	S	394;375;345;219	ENSP00000350072:F345S;ENSP00000445811:F219S	ENSP00000350072:F345S	F	+	2	0	NFE2L1	43490807	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.859000	0.55987	2.150000	0.67090	0.533000	0.62120	TTC	NFE2L1	-	NULL	ENSG00000082641		0.607	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1		0	27	0	T	NM_003204		46135808	1			no_errors	ENST00000362042	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	C	C	46135808	T	C	46135808	3	2	115	1	0	0	0	0	1	0	0	0	10406	1783	62	4	1142	4	NFE2L1	17	46135808	Missense_Mutation	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09	8013704	46135808	35059402	98	30850											
C17orf62	79415	genome.wustl.edu	37	chr17	80407052	80407052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggagagccttaccaaccaGcagggaccaggaccggatgc	11	4	14	12	1	0	1	0	0	0	1	0	5	0	4	5	4	5	1	5	4	2	1			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr17:80407052G>T	ENST00000437807.2	-	3	396	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	C17orf62_ENST00000578919.1_Missense_Mutation_p.L27M|C17orf62_ENST00000578913.1_Missense_Mutation_p.L27M|C17orf62_ENST00000336995.7_De_novo_Start_OutOfFrame|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000434650.2_Missense_Mutation_p.L27M|C17orf62_ENST00000306645.5_Missense_Mutation_p.L27M|C17orf62_ENST00000577436.1_Missense_Mutation_p.L27M|C17orf62_ENST00000583617.1_Missense_Mutation_p.L27M|C17orf62_ENST00000585080.1_Missense_Mutation_p.L27M|C17orf62_ENST00000577732.1_Missense_Mutation_p.L27M|C17orf62_ENST00000585064.1_Missense_Mutation_p.L27M|C17orf62_ENST00000583359.1_5'UTR	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	27						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TTACCAACCAGCAGGGACCAG	0.547																																																	0													31	27	28					17																	80407052		2189	4296	6485	SO:0001583	missense	0			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.79C>A	17.37:g.80407052G>T	ENSP00000388909:p.Leu27Met		E1B6X3|Q96NR1	Missense_Mutation	SNP	NULL	p.L27M	ENST00000437807.2	37	c.79	CCDS32776.1	17	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714158	0.68730	.	.	ENSG00000178927	ENST00000437807;ENST00000306645;ENST00000434650	.	.	.	4.01	2.0	0.26442	.	.	.	.	.	T	0.66626	0.2808	M	0.70275	2.135	0.80722	D	1	D;D	0.61080	0.989;0.98	P;P	0.58928	0.848;0.804	T	0.65088	-0.6253	8	0.72032	D	0.01	.	7.8844	0.29642	0.2716:0.0:0.7284:0.0	.	27;27	E1B6X3;Q9BQA9	.;CQ062_HUMAN	M	27	.	ENSP00000307765:L27M	L	-	1	2	C17orf62	78000341	1.000000	0.71417	0.946000	0.38457	0.989000	0.77384	3.507000	0.53371	0.197000	0.20387	0.491000	0.48974	CTG	C17orf62	-	NULL	ENSG00000178927		0.547	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	HGNC	protein_coding	OTTHUMT00000443260.1	-	0	50	0	G	NM_001033046		80407052	-1	tier1	-	no_errors	ENST00000306645	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.994	T	T	80407052	G	T	80407052	3	4	115	1	0	0	0	0	1	0	0	0	1876	962	34	3	508	3	C17orf62	17	80407052	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	34271244	80407052	788158	99	30851											
FAM38B	63895	genome.wustl.edu	37	chr18	10681730	10681730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actttcaactggctttgttgGgcactcattgtgaaaatagg	10	14	10	7	0	2	1	2	1	0	0	2	1	2	1	0	3	1	3	0	3	4	5	rs112914683		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr18:10681730G>A	ENST00000503781.3	-	47	7367	c.7368C>T	c.(7366-7368)gcC>gcT	p.A2456A	PIEZO2_ENST00000302079.6_Silent_p.A2393A|PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000285141.4_Silent_p.A248A|PIEZO2_ENST00000538948.1_Silent_p.A413A|PIEZO2_ENST00000580640.1_Silent_p.A2481A	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2456					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)										GGCTTTGTTGGGCACTCATTG	0.378																																																	0													143	137	139					18																	10681730		2203	4300	6503	SO:0001819	synonymous_variant	0			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.7368C>T	18.37:g.10681730G>A			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	pfam_Piezo	p.A413	ENST00000503781.3	37	c.1239		18																																																																																			PIEZO2	-	pfam_Piezo	ENSG00000154864		0.378	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4		0	42	0	G	NM_022068		10681730	-1			no_errors	ENST00000538948	ensembl	human	known	74_37	silent	13.16	33	5	SNP	1.000	A	A	10681730	G	A	10681730	2	1	115	1	0	0	0	0	0	0	0	1	5577	1219	43	3		3	FAM38B	18	10681730	Silent	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09		10681730	67395518	100	30852											
DSG1	1828	genome.wustl.edu	37	chr18	28911754	28911754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagattataagacaagaacCttcagattcaccaatgttta	17	11	5	8	0	2	4	2	0	0	4	2	4	2	4	2	0	1	1	2	0	7	6			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr18:28911754C>A	ENST00000257192.4	+	6	820	c.608C>A	c.(607-609)cCt>cAt	p.P203H		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	203	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.P203L(1)		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)			AGACAAGAACCTTCAGATTCA	0.333																																																	1	Substitution - Missense(1)	lung(1)											80	78	79					18																	28911754		2203	4298	6501	SO:0001583	missense	0			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.608C>A	18.37:g.28911754C>A	ENSP00000257192:p.Pro203His		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.P203H	ENST00000257192.4	37	c.608	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878461	0.72294	.	.	ENSG00000134760	ENST00000257192	T	0.54675	0.56	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000019	T	0.76948	0.4059	M	0.85859	2.78	0.80722	D	1	D	0.61080	0.989	D	0.74674	0.984	T	0.80358	-0.1416	10	0.87932	D	0	.	19.4944	0.95065	0.0:1.0:0.0:0.0	.	203	Q02413	DSG1_HUMAN	H	203	ENSP00000257192:P203H	ENSP00000257192:P203H	P	+	2	0	DSG1	27165752	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.470000	0.53100	2.597000	0.87782	0.655000	0.94253	CCT	DSG1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000134760		0.333	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1		0	30	0	C	NM_001942		28911754	1			no_errors	ENST00000257192	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	28911754	C	A	28911754	3	1	115	1	0	0	0	0	1	0	0	0	4790	681	24	3	630	3	DSG1	18	28911754	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	18230024	28911754	49165494	101	30853											
ASXL3	80816	genome.wustl.edu	37	chr18	31323088	31323088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatgggaagtccaggagaGggtggaaagacgagaactct	13	5	16	7	1	1	3	0	0	1	3	2	7	2	5	2	4	1	0	2	4	3	0			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr18:31323088G>A	ENST00000269197.5	+	12	3276	c.3276G>A	c.(3274-3276)gaG>gaA	p.E1092E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1092					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						GTCCAGGAGAGGGTGGAAAGA	0.577																																																	0													47	49	48					18																	31323088		1941	4127	6068	SO:0001819	synonymous_variant	0			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.3276G>A	18.37:g.31323088G>A			Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	superfamily_Znf_FYVE_PHD	p.E1092	ENST00000269197.5	37	c.3276	CCDS45847.1	18																																																																																			ASXL3	-	NULL	ENSG00000141431		0.577	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	31	0	G			31323088	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	silent	18.75	26	6	SNP	0.934	A	A	31323088	G	A	31323088	2	1	115	1	0	0	0	0	0	0	0	1	1069	991	35	3		3	ASXL3	18	31323088	Silent	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	2411334	31323088	46754160	102	30854											
DCC	1630	genome.wustl.edu	37	chr18	50278474	50278474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctctcagaaccttctGatgccgtcacaatgcgggga	8	10	10	13	2	3	2	2	1	2	1	5	3	4	3	3	2	3	1	3	2	2	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr18:50278474G>T	ENST00000442544.2	+	2	758	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	48	Ig-like C2-type 1.				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)	p.D48H(1)		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)		AGAACCTTCTGATGCCGTCAC	0.473																																																	1	Substitution - Missense(1)	lung(1)											57	58	57					18																	50278474		2203	4300	6503	SO:0001583	missense	0			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.142G>T	18.37:g.50278474G>T	ENSP00000389140:p.Asp48Tyr			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D48Y	ENST00000442544.2	37	c.142	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885154	0.91814	.	.	ENSG00000187323	ENST00000442544	T	0.01725	4.67	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.15219	0.0367	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00243	-1.1884	10	0.87932	D	0	.	18.5252	0.90969	0.0:0.0:1.0:0.0	.	48	P43146	DCC_HUMAN	Y	48	ENSP00000389140:D48Y	ENSP00000389140:D48Y	D	+	1	0	DCC	48532472	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.457000	0.97630	2.676000	0.91093	0.655000	0.94253	GAT	DCC	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000187323		0.473	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3		0	34	0	G	NM_005215		50278474	1			no_errors	ENST00000442544	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	50278474	G	T	50278474	3	4	115	1	0	0	0	0	1	0	0	0	4291	1290	45	3	148	3	DCC	18	50278474	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	18955386	50278474	27798774	103	30855											
LMAN1	3998	genome.wustl.edu	37	chr18	57016376	57016376	+	Frame_Shift_Del	DEL	A	A	-																															ccagttgcagcagatattccAaaatgcccttgtgcagggat																										TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr18:57016376delA	ENST00000251047.5	-	6	1449	c.732delT	c.(730-732)tttfs	p.F244fs	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	244	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)	CAGATATTCCAAAATGCCCTT	0.353																																																	0													115	115	115					18																	57016376		2203	4300	6503	SO:0001589	frameshift_variant	0			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.732delT	18.37:g.57016376delA	ENSP00000251047:p.Phe244fs		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Del	DEL	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom	p.F244fs	ENST00000251047.5	37	c.732	CCDS11974.1	18																																																																																			LMAN1	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	ENSG00000074695		0.353	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2		0	22	0	A	NM_005570		57016376	-1	tier1		no_errors	ENST00000251047	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	1.000	-	-	57016376	A	-	57016376	7	5	115	1	0	1	0	1	0	0	0	0	8866	127	5	0	832	0	LMAN1	18	57016376	Frame_Shift_Del	DEL	A	TCGA-LN-A4A5-01A-21D-A27G-09	6737902	57016376	21060872	104	30856											
MBP	4155	genome.wustl.edu	37	chr18	74696752	74696752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttaaaaattttggaaagCgtgccctgggcatcgactcc	11	10	10	10	2	0	0	0	0	0	0	2	2	1	1	2	2	3	2	2	2	4	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr18:74696752C>T	ENST00000528160.1	-	2	154	c.101G>A	c.(100-102)cGc>cAc	p.R34H	MBP_ENST00000527041.1_Intron|MBP_ENST00000578193.1_Silent_p.T150T|RP11-862L9.3_ENST00000582546.1_RNA|RP11-862L9.3_ENST00000580580.1_RNA|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000397869.3_Silent_p.T215T|MBP_ENST00000397865.5_Silent_p.T139T|MBP_ENST00000359645.3_Silent_p.T165T|MBP_ENST00000397875.3_Silent_p.T160T|MBP_ENST00000397866.4_Silent_p.T150T|MBP_ENST00000382582.3_Silent_p.T176T|MBP_ENST00000354542.4_Intron|MBP_ENST00000580402.1_Silent_p.T283T|MBP_ENST00000579129.1_Intron|MBP_ENST00000526111.1_Silent_p.T128T|MBP_ENST00000355994.2_Silent_p.T283T			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	TTTTGGAAAGCGTGCCCTGGG	0.557																																					NSCLC(17;72 1131 19392)												0													80	82	82					18																	74696752		2203	4300	6503	SO:0001583	missense	0				CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000528160.1:c.101G>A	18.37:g.74696752C>T	ENSP00000436830:p.Arg34His		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	NULL	p.R34H	ENST00000528160.1	37	c.101		18	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497749	0.44455	.	.	ENSG00000197971	ENST00000528160	.	.	.	4.71	-1.61	0.08399	.	.	.	.	.	T	0.55768	0.1941	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57820	-0.7745	5	0.87932	D	0	-13.731	4.0077	0.09608	0.2168:0.3296:0.0:0.4536	.	.	.	.	H	34	.	ENSP00000436830:R34H	R	-	2	0	MBP	72825740	0.976000	0.34144	1.000000	0.80357	0.769000	0.43574	-0.129000	0.10515	0.011000	0.14865	0.462000	0.41574	CGC	MBP	-	NULL	ENSG00000197971		0.557	MBP-031	NOVEL	basic	protein_coding	MBP	HGNC	protein_coding	OTTHUMT00000390710.1	-	0	61	0	C	NM_001025081		74696752	-1	tier1	-	no_errors	ENST00000528160	ensembl	human	novel	74_37	missense	14.93	57	10	SNP	1.000	T	T	74696752	C	T	74696752	3	4	115	1	0	0	0	0	1	0	0	0	9397	755	27	1	73	1	MBP	18	74696752	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	17680376	74696752	3380496	105	30857											
PIP5K1C	23396	genome.wustl.edu	37	chr19	3644144	3644144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgtactgggcctcctccCgctcgctagggatctggctg	3	10	14	14	3	1	0	0	0	1	0	5	1	3	1	3	4	1	4	3	4	2	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr19:3644144C>T	ENST00000335312.3	-	12	1539	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.R484Q|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.R484Q|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.R484Q	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	484					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)		GGCCTCCTCCCGCTCGCTAGG	0.697																																					Esophageal Squamous(135;99 1744 12852 27186 39851)												0													33	39	37					19																	3644144		2203	4299	6502	SO:0001583	missense	0			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.1451G>A	19.37:g.3644144C>T	ENSP00000335333:p.Arg484Gln		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.R484Q	ENST00000335312.3	37	c.1451	CCDS32872.1	19	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653772	0.29425	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.27256	1.7;1.71;1.68	4.66	4.66	0.58398	.	0.132898	0.48286	D	0.000193	T	0.15739	0.0379	N	0.25647	0.755	0.29178	N	0.876687	B;B	0.20550	0.046;0.015	B;B	0.19148	0.024;0.004	T	0.06991	-1.0796	10	0.30854	T	0.27	-19.9618	6.8428	0.23973	0.0:0.7964:0.0:0.2036	.	484;484	O60331-3;O60331	.;PI51C_HUMAN	Q	484	ENSP00000335333:R484Q;ENSP00000445992:R484Q;ENSP00000444779:R484Q	ENSP00000335333:R484Q	R	-	2	0	PIP5K1C	3595144	0.954000	0.32549	0.960000	0.40013	0.022000	0.10575	3.439000	0.52878	2.146000	0.66826	0.491000	0.48974	CGG	PIP5K1C	-	NULL	ENSG00000186111		0.697	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	-	0	60	0	C	NM_012398		3644144	-1	tier1	-	no_errors	ENST00000537021	ensembl	human	known	74_37	missense	20.55	57	15	SNP	1.000	T	T	3644144	C	T	3644144	3	4	115	1	0	0	0	0	1	0	0	0	11980	652	23	1	583	1	PIP5K1C	19	3644144	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09		3644144	55484839	106	30858											
FUT5	2527	genome.wustl.edu	37	chr19	5867038	5867038	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgggagcgtccgtacacGtccaccttgagatgagcctg	7	10	13	11	3	0	2	0	2	0	1	2	4	2	3	4	1	3	1	4	1	1	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr19:5867038G>A	ENST00000588525.1	-	2	786	c.699C>T	c.(697-699)gaC>gaT	p.D233D	FUT5_ENST00000252675.5_Silent_p.D233D	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	233					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						GTCCGTACACGTCCACCTTGA	0.637																																																	0													40	40	40					19																	5867038		2197	4290	6487	SO:0001819	synonymous_variant	0				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.699C>T	19.37:g.5867038G>A			A8K4X2	Silent	SNP	pfam_Glyco_trans_10	p.D233	ENST00000588525.1	37	c.699	CCDS12154.1	19																																																																																			FUT5	-	pfam_Glyco_trans_10	ENSG00000130383		0.637	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT5	HGNC	protein_coding	OTTHUMT00000452213.1	-	0	62	0	G	NM_002034		5867038	-1	tier1	-	no_errors	ENST00000252675	ensembl	human	known	74_37	silent	19.74	61	15	SNP	0.554	A	A	5867038	G	A	5867038	2	1	115	1	0	0	0	0	0	0	0	1	6131	1136	40	1		1	FUT5	19	5867038	Silent	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	2222894	5867038	53261945	107	30859											
PRKACA	5566	genome.wustl.edu	37	chr19	14208265	14208265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagataagaacccccaGggcccaccagtccacggcct	11	6	8	16	1	1	2	1	0	0	2	2	2	2	2	6	2	1	0	6	2	3	3	rs34988264		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr19:14208265G>T	ENST00000308677.4	-	8	869	c.673C>A	c.(673-675)Ctg>Atg	p.L225M	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.L217M	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGAACCCCCAGGGCCCACCAG	0.617																																																	0													37	41	40					19																	14208265		2203	4300	6503	SO:0001583	missense	0				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.673C>A	19.37:g.14208265G>T	ENSP00000309591:p.Leu225Met		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L225M	ENST00000308677.4	37	c.673	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105557	0.77096	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.11604	2.76	4.54	3.5	0.40072	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33253	U	0.005107	T	0.24928	0.0605	M	0.84773	2.715	0.38701	D	0.952988	P;B;P	0.40332	0.556;0.318;0.713	B;P;B	0.48400	0.297;0.576;0.4	T	0.05484	-1.0882	10	0.56958	D	0.05	.	10.2998	0.43646	0.0987:0.0:0.9012:0.0	.	167;225;217	B7Z708;P17612;P17612-2	.;KAPCA_HUMAN;.	M	225;217;225;167	ENSP00000309591:L225M	ENSP00000309591:L225M	L	-	1	2	PRKACA	14069265	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.900000	0.56295	0.891000	0.36235	0.591000	0.81541	CTG	PRKACA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000072062		0.617	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	HGNC	protein_coding	OTTHUMT00000459004.1	-	0	24	0	G	NM_002730		14208265	-1	tier1	-	no_errors	ENST00000308677	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	T	T	14208265	G	T	14208265	3	4	115	1	0	0	0	0	1	0	0	0	12539	991	35	3	394	3	PRKACA	19	14208265	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	8341227	14208265	44920718	108	30860											
ATP13A1	57130	genome.wustl.edu	37	chr19	19758016	19758016	+	Silent	SNP	T	T	A	0	1	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	tggaagtcactgaacttgacTccctccaggtagaggacgct	10	9	11	11	1	1	3	1	2	0	1	3	5	3	5	2	3	1	2	2	3	3	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr19:19758016T>A	ENST00000357324.6	-	22	3053	c.3027A>T	c.(3025-3027)ggA>ggT	p.G1009G	ATP13A1_ENST00000291503.5_Silent_p.G891G	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1009						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						TGAACTTGACTCCCTCCAGGT	0.617																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												0													84	94	91					19																	19758016		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3027A>T	19.37:g.19758016T>A			B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.G1009	ENST00000357324.6	37	c.3027	CCDS32970.2	19																																																																																			ATP13A1	-	tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000105726		0.617	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	-	0	39	0	T	NM_020410		19758016	-1	tier1	-	no_errors	ENST00000357324	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.010	A	A	19758016	T	A	19758016	2	1	115	1	0	0	0	0	0	0	0	1	1124	1538	54	5		5	ATP13A1	19	19758016	Silent	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09	5549751	19758016	39370967	109	30861											
KIAA0406	9675	genome.wustl.edu	37	chr20	36640246	36640246	+	Missense_Mutation	SNP	T	T	A	0	1	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	gggtttggtctccagccttcTccagtactggataaagggct	7	12	12	10	0	2	0	0	0	2	0	4	1	2	1	3	4	2	3	3	4	3	4			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr20:36640246T>A	ENST00000373448.2	-	3	2211	c.1973A>T	c.(1972-1974)gAg>gTg	p.E658V	TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.E658V|TTI1_ENST00000449821.1_Missense_Mutation_p.E658V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	658					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCCAGCCTTCTCCAGTACTGG	0.493																																																	0													81	79	80					20																	36640246		2203	4300	6503	SO:0001583	missense	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1973A>T	20.37:g.36640246T>A	ENSP00000362547:p.Glu658Val		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.E658V	ENST00000373448.2	37	c.1973	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758168	0.69763	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.68903	-0.36;-0.36;-0.36	5.23	5.23	0.72850	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81531	0.4842	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83846	0.0260	10	0.66056	D	0.02	-21.3916	14.4502	0.67379	0.0:0.0:0.0:1.0	.	658	O43156	TTI1_HUMAN	V	658	ENSP00000362547:E658V;ENSP00000362546:E658V;ENSP00000407270:E658V	ENSP00000362546:E658V	E	-	2	0	TTI1	36073660	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	7.243000	0.78219	2.195000	0.70347	0.533000	0.62120	GAG	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.493	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	-	0	38	0	T	NM_014657		36640246	-1	tier1	-	no_errors	ENST00000373447	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	A	A	36640246	T	A	36640246	3	1	115	1	0	0	0	0	1	0	0	0	8200	1551	54	5	1324	5	KIAA0406	20	36640246	Missense_Mutation	SNP	T	TCGA-LN-A4A5-01A-21D-A27G-09		36640246	26385274	110	30862											
CDH22	64405	genome.wustl.edu	37	chr20	44856175	44856175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtccacggtgaagtggtgCtcgccgtccagcacgctgta	6	8	15	12	4	0	1	0	1	0	0	3	1	2	1	3	3	2	4	3	3	2	1			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr20:44856175C>A	ENST00000372262.3	-	3	1042	c.642G>T	c.(640-642)gaG>gaT	p.E214D	CDH22_ENST00000537909.1_Missense_Mutation_p.E214D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	214	Cadherin 2. {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)				TGAAGTGGTGCTCGCCGTCCA	0.736																																																	0													25	21	23					20																	44856175		2203	4298	6501	SO:0001583	missense	0			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.642G>T	20.37:g.44856175C>A	ENSP00000361336:p.Glu214Asp		B9EGK7|O43205	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E214D	ENST00000372262.3	37	c.642	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386366	0.82902	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.52295	0.67;0.67	5.14	3.22	0.36961	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	N	0.20610	0.595	0.43058	D	0.994676	D	0.69078	0.997	D	0.65773	0.938	T	0.52003	-0.8633	10	0.87932	D	0	.	10.332	0.43829	0.0:0.8431:0.0:0.1569	.	214	Q9UJ99	CAD22_HUMAN	D	214	ENSP00000361336:E214D;ENSP00000437790:E214D	ENSP00000361336:E214D	E	-	3	2	CDH22	44289582	0.995000	0.38212	1.000000	0.80357	0.962000	0.63368	0.566000	0.23593	0.748000	0.32831	0.563000	0.77884	GAG	CDH22	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000149654		0.736	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1	-	0	42	0	C	NM_021248		44856175	-1	tier1	-	no_errors	ENST00000372262	ensembl	human	known	74_37	missense	22.64	41	12	SNP	0.998	A	A	44856175	C	A	44856175	3	1	115	1	0	0	0	0	1	0	0	0	3114	796	28	3	1880	3	CDH22	20	44856175	Missense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	8215929	44856175	18169345	111	30863											
PCNT	5116	genome.wustl.edu	37	chr21	47849958	47849958	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tataaagtagagcaggagaaGtgcattgctggtgacttgca	13	10	13	5	0	0	3	0	1	0	2	0	4	0	3	0	2	4	5	0	2	5	5			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr21:47849958G>T	ENST00000359568.5	+	36	7832	c.7725G>T	c.(7723-7725)aaG>aaT	p.K2575N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2575					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)					AGCAGGAGAAGTGCATTGCTG	0.522																																																	0													92	87	89					21																	47849958		2203	4300	6503	SO:0001583	missense	0			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.7725G>T	21.37:g.47849958G>T	ENSP00000352572:p.Lys2575Asn		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.K2575N	ENST00000359568.5	37	c.7725	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315983	0.23908	.	.	ENSG00000160299	ENST00000359568	T	0.01705	4.68	4.08	-7.39	0.01402	.	.	.	.	.	T	0.05410	0.0143	L	0.59436	1.845	0.20074	N	0.999935	D;D	0.76494	0.995;0.999	D;D	0.66084	0.919;0.941	T	0.00367	-1.1785	9	0.66056	D	0.02	.	11.1955	0.48711	0.2635:0.0:0.6378:0.0988	.	2457;2575	O95613-2;O95613	.;PCNT_HUMAN	N	2575	ENSP00000352572:K2575N	ENSP00000352572:K2575N	K	+	3	2	PCNT	46674386	0.048000	0.20356	0.037000	0.18230	0.028000	0.11728	-0.261000	0.08694	-1.653000	0.01500	-0.379000	0.06801	AAG	PCNT	-	NULL	ENSG00000160299		0.522	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	-	0	47	0	G	NM_006031		47849958	1	tier1	-	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.237	T	T	47849958	G	T	47849958	3	4	115	1	0	0	0	0	1	0	0	0	11629	1020	36	3	7867	3	PCNT	21	47849958	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09		47849958	279937	112	30864											
LZTR1	8216	genome.wustl.edu	37	chr22	21348236	21348236	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gaggagtgcgtgcagggccaCgtagccattgtcacagcgcg	8	6	16	11	4	1	0	1	0	0	0	1	2	1	1	2	2	4	2	2	2	1	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr22:21348236C>T	ENST00000215739.8	+	13	1736	c.1377C>T	c.(1375-1377)caC>caT	p.H459H	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.H440H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	459	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCAGGGCCACGTAGCCATTG	0.647																																																	0													37	38	38					22																	21348236		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1377C>T	22.37:g.21348236C>T			Q14776|Q20WK0	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.H459	ENST00000215739.8	37	c.1377	CCDS33606.1	22																																																																																			LZTR1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000099949		0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0	49	0	C	NM_006767		21348236	1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	silent	20.75	42	11	SNP	0.953	T	T	21348236	C	T	21348236	2	4	115	1	0	0	0	0	0	0	0	1	9173	535	19	1		1	LZTR1	22	21348236	Silent	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09		21348236	29956330	113	30865											
EWSR1	2130	genome.wustl.edu	37	chr22	29686476	29686476	+	Intron	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtactcagccggcagcataAtgaaaagtgggactagacac	15	6	11	9	1	1	2	1	1	0	1	1	3	1	3	1	2	3	3	1	2	5	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chr22:29686476A>T	ENST00000397938.2	+	9	1293				EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000406548.1_Intron|EWSR1_ENST00000414183.2_Intron|EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000333395.6_Missense_Mutation_p.N350I|EWSR1_ENST00000331029.7_Intron	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGGCAGCATAATGAAAAGTGG	0.358			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	0													51	45	47					22																	29686476		1568	3582	5150	SO:0001627	intron_variant	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.975-1075A>T	22.37:g.29686476A>T			B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	NULL	p.N350I	ENST00000397938.2	37	c.1049	CCDS13851.1	22	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144129	0.37825	.	.	ENSG00000182944	ENST00000333395	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	T	0.60919	0.2306	.	.	.	0.80722	D	1	B	0.34264	0.446	B	0.37047	0.24	T	0.65129	-0.6243	7	0.87932	D	0	.	15.622	0.76813	1.0:0.0:0.0:0.0	.	350	Q9BWA2	.	I	350	.	ENSP00000327456:N350I	N	+	2	0	EWSR1	28016476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.173000	0.89680	2.102000	0.63906	0.533000	0.62120	AAT	EWSR1	-	NULL	ENSG00000182944		0.358	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1		0	17	0	A	NM_005243		29686476	1			no_errors	ENST00000333395	ensembl	human	putative	74_37	missense	12.00	22	3	SNP	1.000	T	T	29686476	A	T	29686476	1	4	115	0	1	0	0	0	0	0	0	0	5312	101	4	5		5	EWSR1	22	29686476	Intron	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	8338240	29686476	21618090	114	30866											
MBTPS2	51360	genome.wustl.edu	37	chrX	21861336	21861336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagactggctggaaaacaacGgactgagcatctcccctttc	12	8	9	12	1	1	2	0	1	1	1	3	4	1	4	2	3	3	2	2	3	4	1	rs375900835		TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chrX:21861336G>A	ENST00000379484.5	+	2	223	c.124G>A	c.(124-126)Gga>Aga	p.G42R	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Missense_Mutation_p.G42R	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	42					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGAAAACAACGGACTGAGCAT	0.393																																																	0								G	ARG/GLY	1,3834		0,1,1631,571	155	148	150		124	5.6	0.7	X		150	0,6728		0,0,2428,1872	no	missense	MBTPS2	NM_015884.3	125	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	42/520	21861336	1,10562	2203	4300	6503	SO:0001583	missense	0			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.124G>A	X.37:g.21861336G>A	ENSP00000368798:p.Gly42Arg		Q9UM70|Q9UMD3	Missense_Mutation	SNP	pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2	p.G42R	ENST00000379484.5	37	c.124	CCDS14201.1	X	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599442	0.87055	2.61E-4	0.0	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.95238	-3.65;-2.48	5.55	5.55	0.83447	.	0.107678	0.64402	D	0.000006	D	0.97210	0.9088	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.983	D	0.97637	1.0146	10	0.66056	D	0.02	-6.7501	18.6008	0.91247	0.0:0.0:1.0:0.0	.	42;42;42	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	R	42	ENSP00000368798:G42R;ENSP00000368796:G42R	ENSP00000368796:G42R	G	+	1	0	MBTPS2	21771257	1.000000	0.71417	0.658000	0.29665	0.883000	0.51084	8.628000	0.90979	2.336000	0.79503	0.544000	0.68410	GGA	MBTPS2	-	NULL	ENSG00000012174		0.393	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1	-	0	42	0	G			21861336	1	tier1	-	no_errors	ENST00000379484	ensembl	human	known	74_37	missense	17.24	48	10	SNP	0.996	A	A	21861336	G	A	21861336	3	1	115	1	0	0	0	0	1	0	0	0	9400	1117	39	1	130	1	MBTPS2	23	21861336	Missense_Mutation	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09		21861336	133409224	115	30867											
HUWE1	10075	genome.wustl.edu	37	chrX	53573489	53573489	+	Missense_Mutation	SNP	A	A	C	1	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	tcccagagtccccccgggagAgctgcagtagtacgttggct	7	8	13	13	2	0	2	0	0	0	2	2	3	2	2	4	2	3	6	4	2	2	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chrX:53573489A>C	ENST00000342160.3	-	69	11280	c.10823T>G	c.(10822-10824)cTc>cGc	p.L3608R	HUWE1_ENST00000262854.6_Missense_Mutation_p.L3608R|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3608					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						CCCCCGGGAGAGCTGCAGTAG	0.522																																																	0													52	47	49					X																	53573489		2203	4300	6503	SO:0001583	missense	0			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.10823T>G	X.37:g.53573489A>C	ENSP00000340648:p.Leu3608Arg		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.L3608R	ENST00000342160.3	37	c.10823	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401894	0.42613	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.54675	0.56;0.56	5.57	5.57	0.84162	.	1.541490	0.05182	N	0.501570	T	0.72244	0.3436	L	0.52905	1.665	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.80764	0.986;0.994	T	0.53570	-0.8420	10	0.87932	D	0	.	13.6978	0.62591	1.0:0.0:0.0:0.0	.	3608;3592	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	R	3608	ENSP00000340648:L3608R;ENSP00000262854:L3608R	ENSP00000262854:L3608R	L	-	2	0	HUWE1	53590214	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	8.387000	0.90167	1.878000	0.54408	0.486000	0.48141	CTC	HUWE1	-	NULL	ENSG00000086758		0.522	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	14	0	A	XM_497119		53573489	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	C	C	53573489	A	C	53573489	3	2	115	1	0	0	0	0	1	0	0	0	7488	304	11	4	2361	4	HUWE1	23	53573489	Missense_Mutation	SNP	A	TCGA-LN-A4A5-01A-21D-A27G-09	31712153	53573489	101697071	116	30868											
OGT	8473	genome.wustl.edu	37	chrX	70783039	70783039	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgacaatcggatagttctGaatggcatcgacctcaaagc	13	10	9	9	2	2	2	1	2	1	0	4	4	2	3	1	2	1	2	1	2	5	3			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chrX:70783039G>C	ENST00000373719.3	+	17	2425	c.2208G>C	c.(2206-2208)ctG>ctC	p.L736L	OGT_ENST00000373701.3_Silent_p.L726L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	736					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)					GGATAGTTCTGAATGGCATCG	0.348																																																	0													122	108	113					X																	70783039		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2208G>C	X.37:g.70783039G>C			Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L736	ENST00000373719.3	37	c.2208	CCDS14414.1	X																																																																																			OGT	-	NULL	ENSG00000147162		0.348	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	-	0	32	0	G	NM_003605, NM_181672		70783039	1	tier1	-	no_errors	ENST00000373719	ensembl	human	known	74_37	silent	13.79	25	4	SNP	1.000	C	C	70783039	G	C	70783039	2	2	115	1	0	0	0	0	0	0	0	1	10886	1277	45	5		5	OGT	23	70783039	Silent	SNP	G	TCGA-LN-A4A5-01A-21D-A27G-09	17209550	70783039	84487521	117	30869											
CAPN6	827	genome.wustl.edu	37	chrX	110495711	110495711	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaaaccatccagggcctCataacagcctagcagcctga	12	6	9	14	0	2	1	2	1	0	0	3	1	3	1	5	2	5	1	5	2	3	2			TCGA-LN-A4A5-01A-21D-A27G-09	TCGA-LN-A4A5-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4704fb64-2188-4d0c-9998-8454caf72eb2	ed9afb38-29fe-4207-a07b-f6a68ba2cf45	g.chrX:110495711C>A	ENST00000324068.1	-	5	690	c.523G>T	c.(523-525)Gag>Tag	p.E175*	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	175	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TCCAGGGCCTCATAACAGCCT	0.428																																																	0													91	74	80					X																	110495711		2203	4300	6503	SO:0001587	stop_gained	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.523G>T	X.37:g.110495711C>A	ENSP00000317214:p.Glu175*		D3DUY7|Q9UEQ1|Q9UJA8	Nonsense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E175*	ENST00000324068.1	37	c.523	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	39	7.692425	0.98438	.	.	ENSG00000077274	ENST00000324068	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9715	0.92716	0.0:1.0:0.0:0.0	.	.	.	.	X	175	.	ENSP00000317214:E175X	E	-	1	0	CAPN6	110382367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.954000	0.63631	2.527000	0.85204	0.600000	0.82982	GAG	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000077274		0.428	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	-	0	19	0	C			110495711	-1	tier1	-	no_errors	ENST00000324068	ensembl	human	known	74_37	nonsense	19.51	33	8	SNP	1.000	A	A	110495711	C	A	110495711	4	1	115	1	0	0	0	0	0	1	0	0	2637	835	29	3	1438	3	CAPN6	23	110495711	Nonsense_Mutation	SNP	C	TCGA-LN-A4A5-01A-21D-A27G-09	39712672	110495711	44774849	118	30870											
HSPG2	3339	genome.wustl.edu	37	chr1	22181417	22181417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcagaggtagaagccggcGtcagcagtcgtgatggctgg	9	6	17	9	4	1	3	1	1	0	2	2	3	1	3	1	4	2	4	1	4	2	1	rs201990135		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:22181417G>T	ENST00000374695.3	-	48	6136	c.6057C>A	c.(6055-6057)gaC>gaA	p.D2019E	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2019	Ig-like C2-type 5.				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)	AGAAGCCGGCGTCAGCAGTCG	0.647																																																	0													78	77	77					1																	22181417		2203	4300	6503	SO:0001583	missense	0			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.6057C>A	1.37:g.22181417G>T	ENSP00000363827:p.Asp2019Glu		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.D2019E	ENST00000374695.3	37	c.6057	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418883	0.42918	.	.	ENSG00000142798	ENST00000374695	T	0.81163	-1.46	5.54	-4.69	0.03299	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40144	N	0.001167	D	0.87625	0.6224	M	0.84433	2.695	0.40004	D	0.975207	D	0.76494	0.999	D	0.76071	0.987	D	0.86884	0.2044	10	0.46703	T	0.11	.	14.2117	0.65769	0.7042:0.0:0.2958:0.0	.	2019	P98160	PGBM_HUMAN	E	2019	ENSP00000363827:D2019E	ENSP00000363827:D2019E	D	-	3	2	HSPG2	22054004	0.006000	0.16342	0.214000	0.23707	0.309000	0.27889	-0.755000	0.04782	-0.835000	0.04234	-1.036000	0.02392	GAC	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000142798		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0	68	0	G	NM_005529		22181417	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.602	T	T	22181417	G	T	22181417	3	4	116	1	0	0	0	0	1	0	0	0	7457	1136	40	2	7318	2	HSPG2	1	22181417	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09		22181417	227069204	1	30871											
TRNAU1AP	54952	genome.wustl.edu	37	chr1	28897783	28897783	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactatgctcagtggggctAtgaccagaacacaggcagct	11	8	11	11	0	1	2	1	1	0	1	1	2	1	2	1	3	4	4	1	3	4	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:28897783A>G	ENST00000373830.3	+	7	652	c.626A>G	c.(625-627)tAt>tGt	p.Y209C		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	209	Tyr-rich.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						CAGTGGGGCTATGACCAGAAC	0.483																																																	0													180	146	158					1																	28897783		2203	4300	6503	SO:0001583	missense	0				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"RNA binding motif (RRM) containing"	30813	protein-coding gene	gene with protein product			"tRNA selenocysteine associated protein 1"	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.626A>G	1.37:g.28897783A>G	ENSP00000362936:p.Tyr209Cys		Q86SU7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y209C	ENST00000373830.3	37	c.626	CCDS324.1	1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374865	0.82573	.	.	ENSG00000180098	ENST00000373830	T	0.27402	1.67	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	P	0.52710	0.707	T	0.24728	-1.0152	10	0.42905	T	0.14	.	13.3382	0.60530	1.0:0.0:0.0:0.0	.	209	Q9NX07	TSAP1_HUMAN	C	209	ENSP00000362936:Y209C	ENSP00000362936:Y209C	Y	+	2	0	TRNAU1AP	28770370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.130000	0.94437	2.180000	0.69256	0.533000	0.62120	TAT	TRNAU1AP	-	NULL	ENSG00000180098		0.483	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNAU1AP	HGNC	protein_coding	OTTHUMT00000010346.1	-	0	32	0	A	NM_017846		28897783	1	tier1	-	no_errors	ENST00000373830	ensembl	human	known	74_37	missense	35.85	34	19	SNP	1.000	G	G	28897783	A	G	28897783	3	3	116	1	0	0	0	0	1	0	0	0	16620	449	16	4	652	4	TRNAU1AP	1	28897783	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	6716366	28897783	220352838	2	30872											
DPH2	1802	genome.wustl.edu	37	chr1	44435941	44435941	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ctcttccggacctggacggaGtgtacgagctggagcgagtc	7	8	15	11	4	1	0	0	0	1	0	3	6	2	4	2	4	3	2	2	4	1	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:44435941G>A	ENST00000255108.3	+	1	266	c.94G>A	c.(94-96)Gtg>Atg	p.V32M	DPH2_ENST00000396758.2_Missense_Mutation_p.V32M|DPH2_ENST00000412950.2_5'UTR|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	32					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCTGGACGGAGTGTACGAGCT	0.632																																																	0													75	81	79					1																	44435941		2203	4300	6503	SO:0001583	missense	0			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.94G>A	1.37:g.44435941G>A	ENSP00000255108:p.Val32Met		A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	p.V32M	ENST00000255108.3	37	c.94	CCDS504.1	1	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093206	0.20471	.	.	ENSG00000132768	ENST00000255108;ENST00000396758	.	.	.	5.24	3.33	0.38152	.	0.348813	0.29791	N	0.011192	T	0.30947	0.0781	L	0.46157	1.445	0.22648	N	0.998895	B;B	0.10296	0.003;0.003	B;B	0.14023	0.01;0.006	T	0.13388	-1.0511	9	0.34782	T	0.22	-11.3468	5.0072	0.14293	0.2295:0.0:0.6128:0.1577	.	32;32	A8MVC9;Q9BQC3	.;DPH2_HUMAN	M	32	.	ENSP00000255108:V32M	V	+	1	0	DPH2	44208528	0.934000	0.31675	0.985000	0.45067	0.461000	0.32589	1.082000	0.30803	1.342000	0.45619	0.461000	0.40582	GTG	DPH2	-	tigrfam_DHP2_eu	ENSG00000132768		0.632	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1		0	24	0	G	NM_001384		44435941	1			no_errors	ENST00000255108	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.095	A	A	44435941	G	A	44435941	3	1	116	1	0	0	0	0	1	0	0	0	4734	1029	36	3	96	3	DPH2	1	44435941	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	15538158	44435941	204814680	3	30873											
JAK1	3716	genome.wustl.edu	37	chr1	65349067	65349067	+	Missense_Mutation	SNP	T	T	A	0	1	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	agatcacttccacccctggcTcaggggcctccaggttcacc	7	8	9	17	0	3	1	3	0	0	1	5	1	5	1	6	4	0	2	6	4	0	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:65349067T>A	ENST00000342505.4	-	3	346	c.98A>T	c.(97-99)gAg>gTg	p.E33V		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	33					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|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 phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CACCCCTGGCTCAGGGGCCTC	0.537			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													99	97	98					1																	65349067		1893	4116	6009	SO:0001583	missense	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.98A>T	1.37:g.65349067T>A	ENSP00000343204:p.Glu33Val		Q59GQ2|Q9UD26	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom	p.E33V	ENST00000342505.4	37	c.98	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	T	8.131	0.783099	0.16189	.	.	ENSG00000162434	ENST00000342505	T	0.70516	-0.49	4.61	3.46	0.39613	Band 4.1 domain (1);	.	.	.	.	T	0.37839	0.1018	N	0.24115	0.695	0.23361	N	0.997831	B	0.19817	0.039	B	0.11329	0.006	T	0.37174	-0.9717	9	0.49607	T	0.09	.	11.7043	0.51590	0.0:0.0:0.1483:0.8517	.	33	P23458	JAK1_HUMAN	V	33	ENSP00000343204:E33V	ENSP00000343204:E33V	E	-	2	0	JAK1	65121655	0.991000	0.36638	0.369000	0.25952	0.110000	0.19582	2.960000	0.49161	0.892000	0.36259	0.533000	0.62120	GAG	JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,smart_Band_41_domain	ENSG00000162434		0.537	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	-	0	30	0	T	NM_002227		65349067	-1	tier1	-	no_errors	ENST00000342505	ensembl	human	known	74_37	missense	17.86	46	10	SNP	0.634	A	A	65349067	T	A	65349067	3	1	116	1	0	0	0	0	1	0	0	0	7964	1551	54	5	3458	5	JAK1	1	65349067	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	20913126	65349067	183901554	4	30874											
MIER1	79819	genome.wustl.edu	37	chr1	67390754	67390754	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggcagcagcgaaggtGgcggcggcagcagcggcagc	7	2	21	11	5	0	0	0	0	0	0	0	1	0	0	0	7	5	5	0	7	1	0			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:67390754G>A	ENST00000371026.3	-	0	0				WDR78_ENST00000371023.3_5'Flank|WDR78_ENST00000431318.1_5'Flank|MIER1_ENST00000355977.6_5'UTR|MIER1_ENST00000371018.3_5'UTR|MIER1_ENST00000371014.1_Missense_Mutation_p.G15S|WDR78_ENST00000371022.3_5'Flank|MIER1_ENST00000401041.1_Missense_Mutation_p.G15S|MIER1_ENST00000371016.1_5'UTR|MIER1_ENST00000371012.2_5'UTR|MIER1_ENST00000357692.2_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78						hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						cagcgaaggtggcggcggcag	0.682																																																	0													9	37	29					1																	67390754		638	1488	2126	SO:0001631	upstream_gene_variant	0			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165		1.37:g.67390754G>A	Exception_encountered		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.G15S	ENST00000371026.3	37	c.43	CCDS635.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012237	0.75046	.	.	ENSG00000198160	ENST00000401041;ENST00000371014	T;T	0.27402	1.78;1.67	3.88	3.88	0.44766	.	1.710450	0.03471	N	0.213720	T	0.27349	0.0671	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.934;0.986	T	0.31888	-0.9927	10	0.87932	D	0	-27.2339	11.6408	0.51230	0.0:0.0:1.0:0.0	.	15;15	Q5TAD5;Q5TAD4	.;.	S	15	ENSP00000383820:G15S;ENSP00000360053:G15S	ENSP00000360053:G15S	G	+	1	0	MIER1	67163342	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.215000	0.42862	2.466000	0.83321	0.561000	0.74099	GGC	MIER1	-	NULL	ENSG00000198160		0.682	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025404.1		0	12	0	G	NM_024763		67390754	1			no_errors	ENST00000401041	ensembl	human	known	74_37	missense	33.33	4	2	SNP	1.000	A	A	67390754	G	A	67390754	1	1	116	0	1	0	0	0	0	0	0	0	9618	1348	47	3		3	MIER1	1	67390754	5'Flank	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	2041687	67390754	181859867	5	30875											
SLC44A5	204962	genome.wustl.edu	37	chr1	75684355	75684355	+	Missense_Mutation	SNP	T	T	A	0	1	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	ggaaggtagggatgtactgaTggtacaagctctttccacca	11	10	12	8	0	1	1	0	1	1	0	2	3	2	3	2	4	3	4	2	4	5	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:75684355T>A	ENST00000370855.5	-	17	1462	c.1349A>T	c.(1348-1350)cAt>cTt	p.H450L	SLC44A5_ENST00000535611.1_Missense_Mutation_p.H320L|SLC44A5_ENST00000370859.3_Missense_Mutation_p.H450L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	450					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						GATGTACTGATGGTACAAGCT	0.418																																																	0													93	88	90					1																	75684355		2203	4300	6503	SO:0001583	missense	0			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1349A>T	1.37:g.75684355T>A	ENSP00000359892:p.His450Leu		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.H450L	ENST00000370855.5	37	c.1349	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326050	0.81580	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.21932	1.98;1.98;1.98	5.6	5.6	0.85130	.	0.302030	0.40469	N	0.001091	T	0.22475	0.0542	L	0.55481	1.735	0.80722	D	1	P;B;P;B;B	0.37731	0.607;0.407;0.607;0.354;0.033	P;P;P;P;B	0.48770	0.589;0.589;0.589;0.454;0.085	T	0.01178	-1.1427	10	0.35671	T	0.21	-3.8723	16.091	0.81090	0.0:0.0:0.0:1.0	.	444;489;450;450;489	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	L	450;489;450;320;443	ENSP00000359896:H450L;ENSP00000359892:H450L;ENSP00000443090:H320L	ENSP00000359892:H450L	H	-	2	0	SLC44A5	75456943	1.000000	0.71417	0.978000	0.43139	0.738000	0.42128	7.977000	0.88081	2.270000	0.75569	0.533000	0.62120	CAT	SLC44A5	-	pfam_Choline_transptr-like	ENSG00000137968		0.418	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1		0	20	0	T	NM_152697		75684355	-1			no_errors	ENST00000370855	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	A	A	75684355	T	A	75684355	3	1	116	1	0	0	0	0	1	0	0	0	14684	1464	51	5	953	5	SLC44A5	1	75684355	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	8293601	75684355	173566266	6	30876											
ZNF326	284695	genome.wustl.edu	37	chr1	90493112	90493112	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaatagagggcgagggaaAtatacagggagtaggggaag	16	4	19	2	1	0	1	0	0	0	1	0	6	0	5	0	6	1	1	0	6	7	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:90493112A>G	ENST00000340281.4	+	12	1744	c.1601A>G	c.(1600-1602)aAt>aGt	p.N534S	ZNF326_ENST00000370447.3_Missense_Mutation_p.N445S|ZNF326_ENST00000455342.2_Missense_Mutation_p.N328S	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	534	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)		ggcgagggaaatatacaggga	0.507																																																	0													53	47	49					1																	90493112		2201	4300	6501	SO:0001583	missense	0			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.1601A>G	1.37:g.90493112A>G	ENSP00000340796:p.Asn534Ser		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	pfam_AKAP95	p.N534S	ENST00000340281.4	37	c.1601	CCDS727.1	1	.	.	.	.	.	.	.	.	.	.	A	2.801	-0.249203	0.05867	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.42900	0.96;0.96;0.96	3.92	1.58	0.23477	.	2.252170	0.02347	N	0.075549	T	0.06005	0.0156	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	0.14671	-1.0464	10	0.05833	T	0.94	3.6465	5.6172	0.17438	0.7732:0.0:0.2268:0.0	.	534;534	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	S	534;534;445;328	ENSP00000340796:N534S;ENSP00000359476:N445S;ENSP00000403470:N328S	ENSP00000340796:N534S	N	+	2	0	ZNF326	90265700	.	.	0.002000	0.10522	0.008000	0.06430	.	.	0.327000	0.23409	-0.415000	0.06103	AAT	ZNF326	-	NULL	ENSG00000162664		0.507	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	HGNC	protein_coding	OTTHUMT00000029428.2	-	0	30	0	A	NM_181781		90493112	1	tier1	-	no_errors	ENST00000340281	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.003	G	G	90493112	A	G	90493112	3	3	116	1	0	0	0	0	1	0	0	0	17894	101	4	4	1651	4	ZNF326	1	90493112	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	14808757	90493112	158757509	7	30877											
CCDC18	343099	genome.wustl.edu	37	chr1	93648967	93648967	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaagacaatgaagaggaaAgtttgcttgcaaatgttgct	16	11	10	4	0	0	3	0	1	0	2	0	4	0	4	0	1	3	5	0	1	6	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:93648967A>G	ENST00000343253.7	+	2	551	c.49A>G	c.(49-51)Agt>Ggt	p.S17G	CCDC18_ENST00000557479.1_Missense_Mutation_p.S135G|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.S17G|CCDC18_ENST00000338949.4_5'UTR|TMED5_ENST00000370282.3_5'Flank			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	17										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)		TGAAGAGGAAAGTTTGCTTGC	0.323																																																	0													106	101	103					1																	93648967		1823	4074	5897	SO:0001583	missense	0					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.49A>G	1.37:g.93648967A>G	ENSP00000343377:p.Ser17Gly		Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.S135G	ENST00000343253.7	37	c.403		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.37|10.37	1.332212|1.332212	0.24167|0.24167	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000448243|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.248287	.|0.34484	.|N	.|0.003934	T|T	0.19248|0.19248	0.0462|0.0462	L|L	0.28274|0.28274	0.84|0.84	0.80722|0.80722	D|D	1|1	.|B	.|0.33103	.|0.397	.|B	.|0.32090	.|0.14	T|T	0.10200|0.10200	-1.0640|-1.0640	5|9	.|0.23891	.|T	.|0.37	.|.	6.6227|6.6227	0.22812|0.22812	0.6923:0.157:0.0:0.1507|0.6923:0.157:0.0:0.1507	.|.	.|135	.|G3V388	.|.	R|G	63|17;17;135	.|.	.|ENSP00000343377:S17G	K|S	+|+	2|1	0|0	CCDC18|CCDC18	93421555|93421555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.137000|2.137000	0.42130|0.42130	2.126000|2.126000	0.65437|0.65437	0.459000|0.459000	0.35465|0.35465	AAG|AGT	CCDC18	-	NULL	ENSG00000122483		0.323	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1		0	25	0	A	NM_206886		93648967	1			no_errors	ENST00000557479	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	G	G	93648967	A	G	93648967	3	3	116	1	0	0	0	0	1	0	0	0	2801	72	3	4	409	4	CCDC18	1	93648967	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	3155855	93648967	155601654	8	30878											
OVGP1	5016	genome.wustl.edu	37	chr1	111968031	111968031	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgccaaagttccacccgccGatggacagtagtgttttcag	9	10	11	11	2	1	0	1	0	0	0	2	2	2	1	4	1	1	3	4	1	2	4	rs373255062		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:111968031G>A	ENST00000369732.3	-	4	346	c.291C>T	c.(289-291)atC>atT	p.I97I	OVGP1_ENST00000481495.1_5'Flank|OVGP1_ENST00000540696.1_Silent_p.I37I	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	97					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)		TCCACCCGCCGATGGACAGTA	0.532																																																	0								G		0,4406		0,0,2203	131	104	113		291	-8.7	0.4	1		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OVGP1	NM_002557.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		97/679	111968031	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.291C>T	1.37:g.111968031G>A			A0AV19|B9EGE1|Q15841	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.I97	ENST00000369732.3	37	c.291	CCDS834.1	1																																																																																			OVGP1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000085465		0.532	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	-	0	101	0	G	NM_002557		111968031	-1	tier1	-	no_errors	ENST00000369732	ensembl	human	known	74_37	silent	31.07	71	32	SNP	0.978	A	A	111968031	G	A	111968031	2	1	116	1	0	0	0	0	0	0	0	1	11364	1048	37	1		1	OVGP1	1	111968031	Silent	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	18319064	111968031	137282590	9	30879											
VTCN1	79679	genome.wustl.edu	37	chr1	117699294	117699294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttgcacgtttttcagcCgcaaagaggcattgccaact	10	11	10	10	2	1	2	1	1	0	1	1	2	1	2	2	1	4	5	2	1	2	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:117699294C>T	ENST00000369458.3	-	3	425	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	VTCN1_ENST00000539893.1_Missense_Mutation_p.R21Q|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Missense_Mutation_p.R119Q|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GTTTTTCAGCCGCAAAGAGGC	0.453																																																	0													97	93	95					1																	117699294		2203	4300	6503	SO:0001583	missense	0			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.347G>A	1.37:g.117699294C>T	ENSP00000358470:p.Arg116Gln			Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.R119Q	ENST00000369458.3	37	c.356	CCDS894.1	1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655025	0.47467	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000539893	T;T;T	0.65364	-0.15;-0.15;-0.15	6.08	2.78	0.32641	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.172268	0.42053	D	0.000775	T	0.24084	0.0583	L	0.28608	0.87	0.24205	N	0.995499	B	0.30511	0.282	B	0.26202	0.067	T	0.06481	-1.0824	10	0.45353	T	0.12	-21.3003	5.5341	0.17001	0.0:0.6101:0.1689:0.221	.	116	Q7Z7D3	VTCN1_HUMAN	Q	116;119;21	ENSP00000358470:R116Q;ENSP00000351899:R119Q;ENSP00000444724:R21Q	ENSP00000351899:R119Q	R	-	2	0	VTCN1	117500817	0.897000	0.30589	0.998000	0.56505	0.726000	0.41606	0.161000	0.16481	0.893000	0.36288	0.637000	0.83480	CGG	VTCN1	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000134258		0.453	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VTCN1	HGNC	protein_coding	OTTHUMT00000033500.2	-	0	47	0	C	NM_024626		117699294	-1	tier1	-	no_errors	ENST00000359008	ensembl	human	known	74_37	missense	16.07	47	9	SNP	0.937	T	T	117699294	C	T	117699294	3	4	116	1	0	0	0	0	1	0	0	0	17283	652	23	1	513	1	VTCN1	1	117699294	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	5731263	117699294	131551327	10	30880											
TCHH	7062	genome.wustl.edu	37	chr1	152082711	152082711	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctgctgcaactcCtcttcctcgcggtatttttt	3	18	5	15	2	2	0	0	0	2	0	7	0	6	0	4	1	3	3	4	1	2	6			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:152082711C>T	ENST00000368804.1	-	2	2981	c.2982G>A	c.(2980-2982)gaG>gaA	p.E994E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	994	10 X 30 AA 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)			gctgcaactcctcttcctcgc	0.577																																																	0													101	104	103					1																	152082711		1926	4123	6049	SO:0001819	synonymous_variant	0			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.2982G>A	1.37:g.152082711C>T			Q5VUI3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.E994	ENST00000368804.1	37	c.2982	CCDS41396.1	1																																																																																			TCHH	-	NULL	ENSG00000159450		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	58	0	C	NM_007113		152082711	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	silent	18.57	57	13	SNP	0.004	T	T	152082711	C	T	152082711	2	4	116	1	0	0	0	0	0	0	0	1	15747	680	24	3		3	TCHH	1	152082711	Silent	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	34383417	152082711	97167910	11	30881											
OR6K6	128371	genome.wustl.edu	37	chr1	158725436	158725437	+	Frame_Shift_Ins	INS	-	-	T																															accttgctgtgttcttgctaINSttttttggcagtgtggctgt																										TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:158725436_158725437insT	ENST00000368144.2	+	1	927_928	c.831_832insT	c.(832-834)tttfs	p.F278fs		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGTTCTTGCTATTTTTTGGCAG	0.455																																																	0																																										SO:0001589	frameshift_variant	0			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.837dupT	1.37:g.158725442_158725442dupT	ENSP00000357126:p.Phe278fs		B9EIM8|Q5VUU9|Q6IFR4	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G279fs	ENST00000368144.2	37	c.831_832	CCDS30904.1	1																																																																																			OR6K6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180433		0.455	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2		0	85	0	-	NM_001005184		158725437	1	tier1		no_errors	ENST00000368144	ensembl	human	known	74_37	frame_shift_ins	18.52	88	20	INS	0.009:0.920	T	T	158725437	-	T	158725436	7	5	116	1	0	1	1	0	0	0	0	0	11243	436	16	0	833	0	OR6K6	1	158725436	Frame_Shift_Ins	INS	-	TCGA-LN-A4A6-01A-11D-A27G-09	6642725	158725436	90525185	12	30882											
PIGC	5279	genome.wustl.edu	37	chr1	172411232	172411232	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatggccatgttcaaggaTagtgtgctggatacaatggc	12	10	13	6	0	1	1	1	0	0	1	1	3	1	3	1	4	2	2	1	4	5	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:172411232T>C	ENST00000367728.1	-	1	1994	c.531A>G	c.(529-531)ctA>ctG	p.L177L	PIGC_ENST00000258324.1_Silent_p.L177L|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Silent_p.L177L|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	177					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)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TGTTCAAGGATAGTGTGCTGG	0.468																																																	0													107	85	92					1																	172411232		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8960	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase"	601730	"phosphatidylinositol glycan, class C"			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.531A>G	1.37:g.172411232T>C			O14491	Silent	SNP	pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2	p.L177	ENST00000367728.1	37	c.531	CCDS1302.1	1																																																																																			PIGC	-	pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2	ENSG00000135845		0.468	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGC	HGNC	protein_coding	OTTHUMT00000084068.1	-	0	31	0	T	NM_153747		172411232	-1	tier1	-	no_errors	ENST00000258324	ensembl	human	known	74_37	silent	34.29	23	12	SNP	0.997	C	C	172411232	T	C	172411232	2	2	116	1	0	0	0	0	0	0	0	1	11925	1393	49	4		4	PIGC	1	172411232	Silent	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	13685796	172411232	76839389	13	30883											
PRDX6	9588	genome.wustl.edu	37	chr1	173454551	173454551	+	Missense_Mutation	SNP	A	A	G	1	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	cagaaaagttaccttttcccAtcatcgatgataggaatcgg	13	11	8	9	2	1	2	1	1	0	1	4	4	2	3	2	2	1	1	2	2	5	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:173454551A>G	ENST00000340385.5	+	3	436	c.304A>G	c.(304-306)Atc>Gtc	p.I102V	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	102	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						ACCTTTTCCCATCATCGATGA	0.468																																																	0													145	136	139					1																	173454551		2203	4300	6503	SO:0001583	missense	0			D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.304A>G	1.37:g.173454551A>G	ENSP00000342026:p.Ile102Val		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.I102V	ENST00000340385.5	37	c.304	CCDS1307.1	1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214742	0.79352	.	.	ENSG00000117592	ENST00000340385	T	0.27557	1.66	5.27	5.27	0.74061	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	M	0.76433	2.335	0.80722	D	1	B	0.29766	0.256	B	0.43478	0.421	T	0.36625	-0.9740	10	0.72032	D	0.01	-24.7114	14.4572	0.67425	1.0:0.0:0.0:0.0	.	102	P30041	PRDX6_HUMAN	V	102	ENSP00000342026:I102V	ENSP00000342026:I102V	I	+	1	0	PRDX6	171721174	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.789000	0.91839	2.112000	0.64535	0.528000	0.53228	ATC	PRDX6	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000117592		0.468	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX6	HGNC	protein_coding	OTTHUMT00000084222.1	-	0	75	0	A	NM_004905		173454551	1	tier1	-	no_errors	ENST00000340385	ensembl	human	known	74_37	missense	40.51	47	32	SNP	1.000	G	G	173454551	A	G	173454551	3	3	116	1	0	0	0	0	1	0	0	0	12511	217	8	4	314	4	PRDX6	1	173454551	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	1043319	173454551	75796070	14	30884											
HMCN1	83872	genome.wustl.edu	37	chr1	185985349	185985349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggcaggagaaaaggaaatCaaatatgaagttgatgtctt	16	10	12	3	0	2	3	1	2	1	1	2	5	2	4	0	3	0	2	0	3	6	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:185985349C>T	ENST00000271588.4	+	32	5398	c.5169C>T	c.(5167-5169)atC>atT	p.I1723I	HMCN1_ENST00000367492.2_Silent_p.I1723I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1723	Ig-like C2-type 14.				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						AAAAGGAAATCAAATATGAAG	0.403																																																	0													93	86	89					1																	185985349		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5169C>T	1.37:g.185985349C>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.I1723	ENST00000271588.4	37	c.5169	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	38	0	C	NM_031935		185985349	1			no_errors	ENST00000271588	ensembl	human	known	74_37	silent	5.13	37	2	SNP	1.000	T	T	185985349	C	T	185985349	2	4	116	1	0	0	0	0	0	0	0	1	7247	816	29	3		3	HMCN1	1	185985349	Silent	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	12530798	185985349	63265272	15	30885											
PTPN14	5784	genome.wustl.edu	37	chr1	214542917	214542918	+	Frame_Shift_Ins	INS	-	-	A																															accttcaagcccgtggttgcINSatagcaaacagaatccgttc																										TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:214542917_214542918insA	ENST00000366956.5	-	17	3347_3348	c.3153_3154insT	c.(3151-3156)tatgcafs	p.A1052fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1052	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		CCCGTGGTTGCATAGCAAACAG	0.5																																					Colon(92;557 1424 24372 34121 40073)												0																																										SO:0001589	frameshift_variant	0			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.3154dupT	1.37:g.214542918_214542918dupA	ENSP00000355923:p.Ala1052fs		Q5VSI0	Frame_Shift_Ins	INS	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.A1051fs	ENST00000366956.5	37	c.3154_3153	CCDS1514.1	1																																																																																			PTPN14	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000152104		0.5	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2		0	73	0	-	NM_005401		214542918	-1	tier1		no_errors	ENST00000366956	ensembl	human	known	74_37	frame_shift_ins	19.75	65	16	INS	1.000:1.000	A	A	214542918	-	A	214542917	7	5	116	1	0	1	1	0	0	0	0	0	12826	710	25	0	421	0	PTPN14	1	214542917	Frame_Shift_Ins	INS	-	TCGA-LN-A4A6-01A-11D-A27G-09	28557568	214542917	34707704	16	30886											
USH2A	7399	genome.wustl.edu	37	chr1	216258050	216258050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagcattacctgctcctagGaactgagctccctcatttaa	11	11	7	12	0	1	2	1	1	0	1	3	3	3	3	3	1	5	3	3	1	4	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:216258050G>A	ENST00000307340.3	-	25	5543	c.5157C>T	c.(5155-5157)ttC>ttT	p.F1719F	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Silent_p.F1719F|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1719	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGCTCCTAGGAACTGAGCTC	0.398										HNSCC(13;0.011)																																							0													100	96	97					1																	216258050		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5157C>T	1.37:g.216258050G>A			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.F1719	ENST00000307340.3	37	c.5157	CCDS31025.1	1																																																																																			USH2A	-	superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,pfscan_Laminin_G	ENSG00000042781		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	30	0	G	NM_007123		216258050	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	27.78	26	10	SNP	1.000	A	A	216258050	G	A	216258050	2	1	116	1	0	0	0	0	0	0	0	1	17085	1165	41	3		3	USH2A	1	216258050	Silent	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	1715133	216258050	32992571	17	30887											
EPRS	2058	genome.wustl.edu	37	chr1	220208321	220208321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaactctagccaagtagcGaagtatagaattcacatctg	14	10	8	9	1	3	1	1	0	2	1	3	2	3	1	1	0	4	3	1	0	8	5	rs529651034		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:220208321G>T	ENST00000366923.3	-	3	435	c.166C>A	c.(166-168)Cgc>Agc	p.R56S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	56					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)	p.R56C(1)		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)	GCCAAGTAGCGAAGTATAGAA	0.363																																																	1	Substitution - Missense(1)	large_intestine(1)											152	142	145					1																	220208321		2203	4300	6503	SO:0001583	missense	0			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.166C>A	1.37:g.220208321G>T	ENSP00000355890:p.Arg56Ser		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk	p.R56S	ENST00000366923.3	37	c.166	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.561960	0.96527	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.08984	3.03	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	M	0.86502	2.82	0.80722	D	1	B;D	0.89917	0.342;1.0	B;D	0.66716	0.209;0.946	T	0.07462	-1.0771	10	0.59425	D	0.04	-14.555	20.731	0.99711	0.0:0.0:1.0:0.0	.	56;56	Q3KQZ8;P07814	.;SYEP_HUMAN	S	56	ENSP00000355890:R56S	ENSP00000355890:R56S	R	-	1	0	EPRS	218274944	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.944000	0.92980	2.907000	0.99374	0.609000	0.83330	CGC	EPRS	-	NULL	ENSG00000136628		0.363	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2		0	13	0	G	NM_004446		220208321	-1			no_errors	ENST00000366923	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	220208321	G	T	220208321	3	4	116	1	0	0	0	0	1	0	0	0	5207	1058	37	2	4492	2	EPRS	1	220208321	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	3950271	220208321	29042300	18	30888											
LYST	1130	genome.wustl.edu	37	chr1	235972743	235972743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctcgggaggaactccatCtcttaaaaccagccattcca	11	8	8	14	1	1	0	0	0	1	0	5	2	3	2	5	3	3	0	5	3	3	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:235972743C>G	ENST00000389794.3	-	5	1549	c.1375G>C	c.(1375-1377)Gat>Cat	p.D459H	LYST_ENST00000389793.2_Missense_Mutation_p.D459H|LYST_ENST00000536965.1_Missense_Mutation_p.D459H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	459					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)			GGAACTCCATCTCTTAAAACC	0.378																																																	0													70	70	70					1																	235972743		2203	4300	6503	SO:0001583	missense	0			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.1375G>C	1.37:g.235972743C>G	ENSP00000374444:p.Asp459His		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D459H	ENST00000389794.3	37	c.1375	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796796	0.31777	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.72615	-0.67;-0.67;2.55	5.36	5.36	0.76844	.	0.203134	0.29342	U	0.012435	T	0.74928	0.3781	L	0.51422	1.61	0.24121	N	0.995806	D;D	0.61697	0.99;0.966	P;P	0.58210	0.835;0.651	T	0.66143	-0.5997	10	0.28530	T	0.3	.	12.9789	0.58552	0.0:0.9168:0.0:0.0831	.	459;459	Q99698-3;Q99698	.;LYST_HUMAN	H	459	ENSP00000374444:D459H;ENSP00000374443:D459H;ENSP00000438315:D459H	ENSP00000374443:D459H	D	-	1	0	LYST	234039366	0.797000	0.28877	0.610000	0.28997	0.549000	0.35272	1.303000	0.33470	2.774000	0.95407	0.655000	0.94253	GAT	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5		0	26	0	C			235972743	-1			no_errors	ENST00000389793	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.878	G	G	235972743	C	G	235972743	3	3	116	1	0	0	0	0	1	0	0	0	9164	913	32	5	10226	5	LYST	1	235972743	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	15764422	235972743	13277878	19	30889											
NID1	4811	genome.wustl.edu	37	chr1	236187381	236187381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctgtaccatagcaggttCgcccgtctcctcggaagccg	7	8	12	14	4	1	0	0	0	1	0	4	1	1	1	4	3	3	4	4	3	3	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:236187381C>T	ENST00000264187.6	-	9	2199	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q	NID1_ENST00000366595.3_Missense_Mutation_p.R706Q	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	706	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	ATAGCAGGTTCGCCCGTCTCC	0.587																																																	0													61	57	58					1																	236187381		2203	4300	6503	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2117G>A	1.37:g.236187381C>T	ENSP00000264187:p.Arg706Gln		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.R706Q	ENST00000264187.6	37	c.2117	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914437	0.72983	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.90261	-2.64;-2.22	5.55	-3.1	0.05315	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.543919	0.20758	N	0.086216	T	0.80829	0.4698	L	0.35414	1.06	0.09310	N	1	B;B	0.25850	0.068;0.136	B;B	0.19148	0.005;0.024	T	0.67473	-0.5662	10	0.40728	T	0.16	.	8.4878	0.33082	0.0962:0.4413:0.0:0.4625	.	706;706	P14543-2;P14543	.;NID1_HUMAN	Q	706	ENSP00000264187:R706Q;ENSP00000355554:R706Q	ENSP00000264187:R706Q	R	-	2	0	NID1	234254004	0.000000	0.05858	0.000000	0.03702	0.965000	0.64279	-0.084000	0.11268	-0.505000	0.06568	0.655000	0.94253	CGA	NID1	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000116962		0.587	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	-	0	27	0	C	NM_002508		236187381	-1	tier1	-	no_errors	ENST00000264187	ensembl	human	known	74_37	missense	47.62	22	20	SNP	0.000	T	T	236187381	C	T	236187381	3	4	116	1	0	0	0	0	1	0	0	0	10453	884	31	1	1674	1	NID1	1	236187381	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	214638	236187381	13063240	20	30890											
KIDINS220	57498	genome.wustl.edu	37	chr2	8919884	8919884	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccagccttgtctgattctGagtgaagctgtcaatggttt	8	14	10	9	0	3	3	1	3	2	0	3	3	3	3	2	1	2	2	2	1	2	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:8919884G>A	ENST00000256707.3	-	18	2471	c.2290C>T	c.(2290-2292)Cag>Tag	p.Q764*	KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.Q764*|KIDINS220_ENST00000319688.5_Nonsense_Mutation_p.Q765*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.Q764*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.Q722*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	764	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.Q764*(1)		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)					GTCTGATTCTGAGTGAAGCTG	0.458																																																	1	Substitution - Nonsense(1)	lung(1)											115	109	111					2																	8919884		1952	4153	6105	SO:0001587	stop_gained	0			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.2290C>T	2.37:g.8919884G>A	ENSP00000256707:p.Gln764*		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Nonsense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q764*	ENST00000256707.3	37	c.2290	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.623534	0.99221	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.5636	0.95384	0.0:0.0:1.0:0.0	.	.	.	.	X	511;448;764;764;722;764;765;765	.	ENSP00000256707:Q764X	Q	-	1	0	KIDINS220	8837335	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.751000	0.98889	2.681000	0.91329	0.655000	0.94253	CAG	KIDINS220	-	pfam_KAP_NTPase	ENSG00000134313		0.458	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	-	0	43	0	G	NM_020738		8919884	-1	tier1	-	no_errors	ENST00000256707	ensembl	human	known	74_37	nonsense	27.50	58	22	SNP	1.000	A	A	8919884	G	A	8919884	4	1	116	1	0	0	0	0	0	1	0	0	8298	1299	45	3	3077	3	KIDINS220	2	8919884	Nonsense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09		8919884	234279489	21	30891											
GEN1	348654	genome.wustl.edu	37	chr2	17962626	17962626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacagtggttctgattgtaCatcacatctttcaaaggatc	12	14	7	8	0	4	1	2	1	2	0	5	2	4	2	0	2	2	2	0	2	3	5			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:17962626C>T	ENST00000381254.2	+	14	2361	c.2147C>T	c.(2146-2148)aCa>aTa	p.T716I	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.T716I	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	716					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)					TCTGATTGTACATCACATCTT	0.363								Homologous recombination																																									0													108	117	114					2																	17962626		2203	4300	6503	SO:0001583	missense	0			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.2147C>T	2.37:g.17962626C>T	ENSP00000370653:p.Thr716Ile		Q17RS9|Q6ZN37	Missense_Mutation	SNP	pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.T716I	ENST00000381254.2	37	c.2147	CCDS1691.1	2	.	.	.	.	.	.	.	.	.	.	C	4.783	0.145527	0.09134	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	T;T	0.25085	1.82;1.82	5.41	-1.8	0.07907	.	0.875100	0.09688	N	0.768787	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.26985	-1.0087	10	0.54805	T	0.06	0.8359	7.1161	0.25416	0.1035:0.4882:0.0:0.4083	.	716	Q17RS7	GEN_HUMAN	I	716;716;353	ENSP00000318977:T716I;ENSP00000370653:T716I	ENSP00000318977:T716I	T	+	2	0	GEN1	17826107	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.025000	0.13577	-0.623000	0.05618	-0.136000	0.14681	ACA	GEN1	-	NULL	ENSG00000178295		0.363	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	HGNC	protein_coding	OTTHUMT00000241661.2		0	15	0	C	NM_182625		17962626	1			no_errors	ENST00000317402	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.000	T	T	17962626	C	T	17962626	3	4	116	1	0	0	0	0	1	0	0	0	6361	478	17	3	2197	3	GEN1	2	17962626	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	9042742	17962626	225236747	22	30892											
CCDC75	253635	genome.wustl.edu	37	chr2	37316991	37316991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgggctataaaagtggtCaggcacttggcaagagtggt	12	9	15	5	0	1	2	1	0	0	2	1	2	1	2	0	5	0	3	0	5	4	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:37316991C>A	ENST00000608836.1	+	3	401	c.256C>A	c.(256-258)Cag>Aag	p.Q86K	GPATCH11_ENST00000281932.5_Intron|GPATCH11_ENST00000409774.1_Missense_Mutation_p.Q112K	NM_174931.2	NP_777591.3	Q8N954	GPT11_HUMAN	G patch domain containing 11	86	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						nucleic acid binding (GO:0003676)										TAAAAGTGGTCAGGCACTTGG	0.413																																																	0													83	80	81					2																	37316991		692	1591	2283	SO:0001583	missense	0			AK095667	CCDS1785.2, CCDS62891.1, CCDS1785.3	2p22.2	2013-11-05	2013-01-28	2013-01-28	ENSG00000152133	ENSG00000152133		"G patch domain containing"	26768	protein-coding gene	gene with protein product	"centromere protein Y"		"coiled-coil domain containing 75"	CCDC75			Standard	NM_001278505		Approved	FLJ38348, CENPY, CENP-Y	uc010ezz.3	Q8N954	OTTHUMG00000128469	ENST00000608836.1:c.256C>A	2.37:g.37316991C>A	ENSP00000476383:p.Gln86Lys		A8K0D9|B7Z2G4|B8ZZ44	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.Q112K	ENST00000608836.1	37	c.334	CCDS1785.2	2	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761325	0.49468	.	.	ENSG00000152133	ENST00000409774	T	0.32272	1.46	5.27	5.27	0.74061	D111/G-patch (3);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	N	0.25144	0.715	0.80722	D	1	D	0.56968	0.978	P	0.54499	0.754	T	0.02966	-1.1088	10	0.13853	T	0.58	-15.3355	17.8666	0.88796	0.0:1.0:0.0:0.0	.	86	Q8N954	CCD75_HUMAN	K	86	ENSP00000386772:Q86K	ENSP00000386772:Q86K	Q	+	1	0	CCDC75	37170495	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.911000	0.75746	2.450000	0.82876	0.650000	0.86243	CAG	GPATCH11	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	ENSG00000152133		0.413	GPATCH11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH11	HGNC	protein_coding		-	0	39	0	C	NM_174931		37316991	1	tier1	-	no_errors	ENST00000409774	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A	A	37316991	C	A	37316991	3	1	116	1	0	0	0	0	1	0	0	0	2856	827	29	3	262	3	CCDC75	2	37316991	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	19354365	37316991	205882382	23	30893											
CDKL4	344387	genome.wustl.edu	37	chr2	39417577	39417577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagaaccatactgagtatctCccacaagaagttcaggagct	15	8	8	10	0	2	3	1	1	1	2	3	4	2	4	2	1	3	3	2	1	6	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:39417577C>T	ENST00000395035.3	-	5	520	c.521G>A	c.(520-522)gGa>gAa	p.G174E	CDKL4_ENST00000378803.1_Missense_Mutation_p.G174E			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				CTGAGTATCTCCCACAAGAAG	0.468																																																	0													166	164	165					2																	39417577		2203	4300	6503	SO:0001583	missense	0				CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"Cyclin-dependent kinases"	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.521G>A	2.37:g.39417577C>T	ENSP00000378476:p.Gly174Glu		Q2NME9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G174E	ENST00000395035.3	37	c.521		2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149046	0.78001	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.52295	0.67;0.67	5.07	4.19	0.49359	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	0.53938	D	0.000043	T	0.62877	0.2464	L	0.53249	1.67	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66069	-0.6015	10	0.87932	D	0	-18.6852	13.0971	0.59200	0.1616:0.8384:0.0:0.0	.	174;174	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	E	174	ENSP00000368080:G174E;ENSP00000378476:G174E	ENSP00000368080:G174E	G	-	2	0	CDKL4	39271081	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	5.662000	0.68032	1.259000	0.44117	0.609000	0.83330	GGA	CDKL4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000205111		0.468	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	CDKL4	HGNC	protein_coding	OTTHUMT00000331655.1	-	0	24	0	C	XM_293029		39417577	-1	tier1	-	no_errors	ENST00000378803	ensembl	human	known	74_37	missense	28.07	41	16	SNP	1.000	T	T	39417577	C	T	39417577	3	4	116	1	0	0	0	0	1	0	0	0	3163	855	30	3	442	3	CDKL4	2	39417577	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	2100586	39417577	203781796	24	30894											
CNGA3	1261	genome.wustl.edu	37	chr2	98994176	98994176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgtcaagtgaggagacatCgtcagtgctgcagccgggga	9	7	15	10	3	2	2	2	1	0	1	4	4	2	3	1	3	3	2	1	3	1	0	rs367575427		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:98994176C>T	ENST00000272602.2	+	2	167	c.128C>T	c.(127-129)tCg>tTg	p.S43L	CNGA3_ENST00000409937.1_5'UTR|CNGA3_ENST00000436404.2_Missense_Mutation_p.S43L|CNGA3_ENST00000393504.1_Missense_Mutation_p.S43L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	43					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						GAGGAGACATCGTCAGTGCTG	0.582													C|||	1	0.000199681	0	0.0014	5008	,	,		19107	0		0	False		,,,				2504	0																0													37	33	34					2																	98994176		2203	4300	6503	SO:0001583	missense	0			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.128C>T	2.37:g.98994176C>T	ENSP00000272602:p.Ser43Leu		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S43L	ENST00000272602.2	37	c.128	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182100	0.38511	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602	T;T;T	0.52526	0.66;0.66;0.66	4.79	3.91	0.45181	.	.	.	.	.	T	0.41581	0.1165	M	0.72894	2.215	0.09310	N	1	B;P	0.45428	0.004;0.858	B;B	0.31614	0.001;0.133	T	0.43458	-0.9390	9	0.59425	D	0.04	.	10.5751	0.45223	0.0:0.9084:0.0:0.0916	.	43;43	Q4VAP7;Q16281	.;CNGA3_HUMAN	L	43	ENSP00000377140:S43L;ENSP00000410070:S43L;ENSP00000272602:S43L	ENSP00000272602:S43L	S	+	2	0	CNGA3	98360608	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.408000	0.21065	1.376000	0.46267	-0.136000	0.14681	TCG	CNGA3	-	NULL	ENSG00000144191		0.582	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	-	0	25	0	C	NM_001298		98994176	1	tier1	-	no_errors	ENST00000272602	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.014	T	T	98994176	C	T	98994176	3	4	116	1	0	0	0	0	1	0	0	0	3605	893	31	1	134	1	CNGA3	2	98994176	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	59576599	98994176	144205197	25	30895											
RANBP2	5903	genome.wustl.edu	37	chr2	109347782	109347782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttttctgatattagcgttCagtggaattaaacccaacac	12	14	6	9	1	3	1	1	1	2	0	3	2	3	2	1	1	3	1	1	1	6	6			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:109347782C>T	ENST00000283195.6	+	4	383	c.257C>T	c.(256-258)tCa>tTa	p.S86L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	86					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						TATTAGCGTTCAGTGGAATTA	0.274																																																	0													36	38	38					2																	109347782		2195	4276	6471	SO:0001583	missense	0			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.257C>T	2.37:g.109347782C>T	ENSP00000283195:p.Ser86Leu		Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	NULL	p.Q49*	ENST00000283195.6	37	c.145	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059158	0.76074	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.63913	-0.07	4.97	4.97	0.65823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.74642	0.3743	L	0.47716	1.5	0.54753	D	0.999987	D	0.76494	0.999	D	0.72982	0.979	T	0.77368	-0.2614	9	0.87932	D	0	-15.2292	18.5845	0.91183	0.0:1.0:0.0:0.0	.	86	P49792	RBP2_HUMAN	L	86	ENSP00000283195:S86L	ENSP00000283195:S86L	S	+	2	0	RANBP2	108714214	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.201000	0.77847	2.477000	0.83638	0.573000	0.79308	TCA	RANBP2	-	NULL	ENSG00000153201		0.274	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	-	0	191	0	C	NM_006267		109347782	1	tier1	-	no_errors	ENST00000425282	ensembl	human	known	74_37	nonsense	14.90	217	38	SNP	1.000	T	T	109347782	C	T	109347782	3	4	116	1	0	0	0	0	1	0	0	0	13073	838	29	3	271	3	RANBP2	2	109347782	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	10353606	109347782	133851591	26	30896											
DYNC1I2	1781	genome.wustl.edu	37	chr2	172549338	172549339	+	Frame_Shift_Ins	INS	-	-	A																															gcaagaagaatcagatcttgINSaaaaaaaaaggagagaagct																										TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:172549338_172549339insA	ENST00000397119.3	+	3	327_328	c.160_161insA	c.(160-162)gaafs	p.E54fs	DYNC1I2_ENST00000508530.1_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000358002.6_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000534253.2_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000409197.1_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000410079.3_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Ins_p.E54fs	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	54					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)	p.R57fs*13(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ATCAGATCTTGAAAAAAAAAGG	0.351																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			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.169dupA	2.37:g.172549347_172549347dupA	ENSP00000380308:p.Glu54fs		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Frame_Shift_Ins	INS	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R57fs	ENST00000397119.3	37	c.160_161	CCDS46450.1	2																																																																																			DYNC1I2	-	NULL	ENSG00000077380		0.351	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2		0	26	0	-	NM_001378		172549339	1	tier1		no_errors	ENST00000397119	ensembl	human	known	74_37	frame_shift_ins	7.89	35	3	INS	1.000:1.000	A	A	172549339	-	A	172549338	7	5	116	1	0	1	1	0	0	0	0	0	4857	1291	45	0	166	0	DYNC1I2	2	172549338	Frame_Shift_Ins	INS	-	TCGA-LN-A4A6-01A-11D-A27G-09	63201556	172549338	70650035	27	30897											
TTN	7273	genome.wustl.edu	37	chr2	179640737	179640737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagctttcctggttcatGtacgtgaaactcaggccttg	8	13	10	10	1	2	2	2	2	0	0	3	2	3	2	2	2	3	3	2	2	3	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:179640737G>T	ENST00000591111.1	-	28	6078	c.5854C>A	c.(5854-5856)Cat>Aat	p.H1952N	TTN_ENST00000460472.2_Missense_Mutation_p.H1906N|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H1952N|TTN_ENST00000359218.5_Missense_Mutation_p.H1906N|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.H1952N|TTN_ENST00000589042.1_Missense_Mutation_p.H1952N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H1906N|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12779					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)			CCTGGTTCATGTACGTGAAAC	0.423																																																	0													173	178	176					2																	179640737		2203	4300	6503	SO:0001583	missense	0			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.5854C>A	2.37:g.179640737G>T	ENSP00000465570:p.His1952Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H1952N	ENST00000591111.1	37	c.5854		2	.	.	.	.	.	.	.	.	.	.	G	6.235	0.411461	0.11812	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62232	0.04;0.27;0.25;0.24;0.4	5.1	5.1	0.69264	Ribonuclease H-like (1);	.	.	.	.	T	0.49440	0.1557	N	0.14661	0.345	0.20975	N	0.999816	P;P;P;P;P	0.47910	0.454;0.454;0.454;0.454;0.902	B;B;B;B;B	0.43301	0.053;0.053;0.053;0.053;0.415	T	0.49351	-0.8949	9	0.87932	D	0	.	13.4151	0.60963	0.0:0.0:0.8024:0.1975	.	1906;1906;1906;1952;1952	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	1952;1906;1906;1906;1906;1952	ENSP00000343764:H1952N;ENSP00000434586:H1906N;ENSP00000340554:H1906N;ENSP00000352154:H1906N;ENSP00000354117:H1952N	ENSP00000340554:H1906N	H	-	1	0	TTN	179348982	1.000000	0.71417	0.261000	0.24466	0.720000	0.41350	3.252000	0.51461	2.385000	0.81259	0.609000	0.83330	CAT	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	49	0	G	NM_133378		179640737	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.586	T	T	179640737	G	T	179640737	3	4	116	1	0	0	0	0	1	0	0	0	16784	1377	48	3	105474	3	TTN	2	179640737	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	7091399	179640737	63558636	28	30898											
NRP2	8828	genome.wustl.edu	37	chr2	206628610	206628610	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgaggaccagggcggcGagtggaagcacgggcggatc	8	4	19	10	5	0	1	0	1	0	0	2	5	1	4	2	6	1	1	2	6	1	0			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:206628610G>T	ENST00000357785.5	+	13	2288	c.2257G>T	c.(2257-2259)Gag>Tag	p.E753*	NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000360409.3_Nonsense_Mutation_p.E753*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.E753*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.E753*|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000540841.1_Nonsense_Mutation_p.E753*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.E753*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.E753*|AC007362.3_ENST00000423425.1_RNA|AC007362.3_ENST00000598710.1_RNA			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCAGGGCGGCGAGTGGAAGCA	0.612											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53	56	55					2																	206628610		2203	4300	6503	SO:0001587	stop_gained	0			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.2257G>T	2.37:g.206628610G>T	ENSP00000350432:p.Glu753*	2161	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.E753*	ENST00000357785.5	37	c.2257	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	G	47	13.300452	0.99733	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	.	.	.	5.87	3.93	0.45458	.	0.496147	0.25060	N	0.033450	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-25.8388	15.9452	0.79787	0.0:0.2551:0.7449:0.0	.	.	.	.	X	753	.	ENSP00000272849:E753X	E	+	1	0	NRP2	206336855	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.538000	0.53597	1.447000	0.47661	0.655000	0.94253	GAG	NRP2	-	pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000118257		0.612	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1	-	0	45	0	G			206628610	1	tier1	-	no_errors	ENST00000360409	ensembl	human	known	74_37	nonsense	19.51	33	8	SNP	0.975	T	T	206628610	G	T	206628610	4	4	116	1	0	0	0	0	0	1	0	0	10700	1059	37	2	2334	2	NRP2	2	206628610	Nonsense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	26987873	206628610	36570763	29	30899											
C2orf67	151050	genome.wustl.edu	37	chr2	210993825	210993825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctaggtctgaaatctgaGcttgaagccaagtccatcgg	11	11	10	9	1	3	3	0	3	3	0	5	3	4	3	2	2	2	1	2	2	4	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:210993825G>T	ENST00000281772.9	-	3	1423	c.1160C>A	c.(1159-1161)gCt>gAt	p.A387D	KANSL1L_ENST00000418791.1_Missense_Mutation_p.A387D|KANSL1L_ENST00000452086.1_Missense_Mutation_p.A387D|KANSL1L_ENST00000457374.1_Missense_Mutation_p.A387D	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	387						histone acetyltransferase complex (GO:0000123)											TGAAATCTGAGCTTGAAGCCA	0.428																																																	0													190	168	175					2																	210993825		2203	4300	6503	SO:0001583	missense	0			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.1160C>A	2.37:g.210993825G>T	ENSP00000281772:p.Ala387Asp		B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	NULL	p.A387D	ENST00000281772.9	37	c.1160	CCDS33370.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	25.0|25.0|25.0	4.591977|4.591977|4.591977	0.86953|0.86953|0.86953	.|.|.	.|.|.	ENSG00000144445|ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086|ENST00000438563;ENST00000415553|ENST00000428655	.|.|.	.|.|.	.|.|.	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	.|.|.	0.100789|.|.	0.42821|.|.	D|.|.	0.000642|.|.	T|T|T	0.76205|0.76205|0.76205	0.3955|0.3955|0.3955	M|M|M	0.70595|0.70595|0.70595	2.14|2.14|2.14	0.44432|0.44432|0.44432	D|D|D	0.99735|0.99735|0.99735	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.91635|.|.	0.966;0.999;0.998;0.998|.|.	T|T|T	0.74797|0.74797|0.74797	-0.3543|-0.3543|-0.3543	9|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	19.4324|19.4324|19.4324	0.94776|0.94776|0.94776	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	387;387;387;387|.|.	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9|.|.	.;.;.;CB067_HUMAN|.|.	D|I|R	387|61;106|81	.|.|.	ENSP00000281772:A387D|.|.	A|L|S	-|-|-	2|1|3	0|0|2	C2orf67|C2orf67|C2orf67	210702070|210702070|210702070	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	7.979000|7.979000|7.979000	0.88103|0.88103|0.88103	2.584000|2.584000|2.584000	0.87258|0.87258|0.87258	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GCT|CTC|AGC	KANSL1L	-	NULL	ENSG00000144445		0.428	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL1L	HGNC	protein_coding	OTTHUMT00000336633.3	-	0	83	0	G	NM_152519		210993825	-1	tier1	-	no_errors	ENST00000281772	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	210993825	G	T	210993825	3	4	116	1	0	0	0	0	1	0	0	0	2193	971	34	3	1855	3	C2orf67	2	210993825	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	4365215	210993825	32205548	30	30900											
KIAA1486	57624	genome.wustl.edu	37	chr2	226447051	226447051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggtgcctgacttggacttCgccaaggcctcagtgccatg	7	9	12	13	2	1	1	1	1	0	0	2	2	1	2	4	3	2	0	4	3	1	2	rs533815234		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:226447051C>T	ENST00000272907.6	+	4	1331	c.918C>T	c.(916-918)ttC>ttT	p.F306F	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	306					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ACTTGGACTTCGCCAAGGCCT	0.587													C|||	1	0.000199681	8e-04	0	5008	,	,		14073	0		0	False		,,,				2504	0																0													65	69	68					2																	226447051		2079	4198	6277	SO:0001819	synonymous_variant	0			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.918C>T	2.37:g.226447051C>T			A2RRN4|Q96NL2	Silent	SNP	NULL	p.F306	ENST00000272907.6	37	c.918	CCDS46529.1	2																																																																																			NYAP2	-	NULL	ENSG00000144460		0.587	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	-	0	12	0	C	NM_020864		226447051	1	tier1	-	no_errors	ENST00000272907	ensembl	human	known	74_37	silent	26.92	19	7	SNP	1.000	T	T	226447051	C	T	226447051	2	4	116	1	0	0	0	0	0	0	0	1	8264	883	31	1		1	KIAA1486	2	226447051	Silent	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	15453226	226447051	16752322	31	30901											
KIF1A	547	genome.wustl.edu	37	chr2	241722519	241722519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagcgacttgttgatgttgGccccctcctgcgggcagaaa	7	10	12	12	2	1	2	1	1	0	1	2	3	2	2	3	2	2	3	3	2	1	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:241722519G>A	ENST00000320389.7	-	9	964	c.806C>T	c.(805-807)gCc>gTc	p.A269V	KIF1A_ENST00000498729.2_Missense_Mutation_p.A269V	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	269	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)		GTTGATGTTGGCCCCCTCCTG	0.652																																																	0													92	106	101					2																	241722519		2000	4153	6153	SO:0001583	missense	0			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.806C>T	2.37:g.241722519G>A	ENSP00000322791:p.Ala269Val		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A269V	ENST00000320389.7	37	c.806	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	g	18.21	3.572462	0.65765	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.75821	-0.97;-0.97;-0.97	3.54	3.54	0.40534	Kinesin, motor domain (4);	0.066068	0.64402	U	0.000013	T	0.75302	0.3831	L	0.58925	1.835	0.80722	D	1	P;P;P	0.52692	0.955;0.916;0.926	P;B;B	0.47134	0.539;0.219;0.346	T	0.80788	-0.1226	10	0.87932	D	0	.	15.4947	0.75641	0.0:0.0:1.0:0.0	.	269;269;269	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	V	269	ENSP00000322791:A269V;ENSP00000438388:A269V;ENSP00000384231:A269V	ENSP00000322791:A269V	A	-	2	0	KIF1A	241371192	1.000000	0.71417	0.995000	0.50966	0.282000	0.26991	9.559000	0.98135	1.712000	0.51347	0.552000	0.68991	GCC	KIF1A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000130294		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	-	0	97	0	G	NM_138483		241722519	-1	tier1	-	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	30.21	67	29	SNP	1.000	A	A	241722519	G	A	241722519	3	1	116	1	0	0	0	0	1	0	0	0	8310	1203	42	3	4422	3	KIF1A	2	241722519	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	15275468	241722519	1476854	32	30902											
PDCD6IP	10015	genome.wustl.edu	37	chr3	33870378	33870378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttggctgcaaagcactgtAtcatgcaggccaatgctgag	10	10	11	10	0	2	1	1	1	1	0	2	1	2	1	1	2	4	6	1	2	3	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:33870378A>G	ENST00000307296.3	+	7	1128	c.751A>G	c.(751-753)Atc>Gtc	p.I251V	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.I256V			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	251	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				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						AAAGCACTGTATCATGCAGGC	0.463																																																	0													120	114	116					3																	33870378		2203	4300	6503	SO:0001583	missense	0			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.751A>G	3.37:g.33870378A>G	ENSP00000307387:p.Ile251Val		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.I256V	ENST00000307296.3	37	c.766	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	A	8.787	0.929701	0.18131	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.17213	2.29;2.29	5.2	4.02	0.46733	BRO1 domain (3);	0.094659	0.64402	D	0.000001	T	0.13927	0.0337	L	0.35854	1.095	0.58432	D	0.999996	B;B;B	0.19073	0.033;0.001;0.003	B;B;B	0.13407	0.009;0.009;0.009	T	0.04900	-1.0919	10	0.39692	T	0.17	-9.9029	11.5393	0.50657	0.926:0.0:0.0739:0.0	.	32;256;251	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	V	251;256	ENSP00000307387:I251V;ENSP00000411825:I256V	ENSP00000307387:I251V	I	+	1	0	PDCD6IP	33845382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.212000	0.65225	2.091000	0.63221	0.533000	0.62120	ATC	PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000170248		0.463	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	-	0	46	0	A			33870378	1	tier1	-	no_errors	ENST00000457054	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	G	G	33870378	A	G	33870378	3	3	116	1	0	0	0	0	1	0	0	0	11663	449	16	4	792	4	PDCD6IP	3	33870378	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09		33870378	164152052	33	30903											
STAC	6769	genome.wustl.edu	37	chr3	36534710	36534710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtatgacctaaggaaacGcagcaacagcggtgagtgag	13	5	15	8	3	0	3	0	3	0	0	0	4	0	4	1	3	4	3	1	3	4	2	rs558026131		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:36534710G>T	ENST00000273183.3	+	6	1055	c.755G>T	c.(754-756)cGc>cTc	p.R252L	STAC_ENST00000457375.2_Missense_Mutation_p.R191L|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	252					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CTAAGGAAACGCAGCAACAGC	0.527																																																	0													112	113	113					3																	36534710		2203	4300	6503	SO:0001583	missense	0			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.755G>T	3.37:g.36534710G>T	ENSP00000273183:p.Arg252Leu		B2R8S8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.R252L	ENST00000273183.3	37	c.755	CCDS2662.1	3	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049212	0.55110	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	T;T;T	0.76968	-1.06;0.94;0.88	5.24	5.24	0.73138	.	0.240261	0.43416	D	0.000568	T	0.66944	0.2841	N	0.24115	0.695	0.54753	D	0.999988	B;B	0.28713	0.138;0.22	B;B	0.25987	0.04;0.065	T	0.66329	-0.5951	10	0.48119	T	0.1	.	16.125	0.81386	0.0:0.0:1.0:0.0	.	191;252	E9PEA7;Q99469	.;STAC_HUMAN	L	252;191;184;180	ENSP00000273183:R252L;ENSP00000393713:R191L;ENSP00000398403:R180L	ENSP00000273183:R252L	R	+	2	0	STAC	36509714	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	6.081000	0.71309	2.617000	0.88574	0.655000	0.94253	CGC	STAC	-	NULL	ENSG00000144681		0.527	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC	HGNC	protein_coding	OTTHUMT00000253338.2	-	0	48	0	G	NM_003149		36534710	1	tier1	-	no_errors	ENST00000273183	ensembl	human	known	74_37	missense	53.49	20	23	SNP	0.998	T	T	36534710	G	T	36534710	3	4	116	1	0	0	0	0	1	0	0	0	15286	1087	38	2	777	2	STAC	3	36534710	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	2664332	36534710	161487720	34	30904											
SENP7	57337	genome.wustl.edu	37	chr3	101085489	101085489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgactgttaagtgaggatAgtttagtaaaatcacttttt	12	16	8	5	0	1	2	1	2	0	0	1	3	1	3	1	1	0	3	1	1	5	7			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:101085489A>G	ENST00000394095.2	-	9	1156	c.1103T>C	c.(1102-1104)cTa>cCa	p.L368P	SENP7_ENST00000314261.7_Missense_Mutation_p.L302P|SENP7_ENST00000394094.2_Missense_Mutation_p.L303P|SENP7_ENST00000394091.1_Missense_Mutation_p.L204P|SENP7_ENST00000348610.3_Missense_Mutation_p.L335P|SENP7_ENST00000358203.3_Missense_Mutation_p.L204P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	368						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGTGAGGATAGTTTAGTAAA	0.383																																																	0													110	109	109					3																	101085489		2203	4300	6503	SO:0001583	missense	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1103T>C	3.37:g.101085489A>G	ENSP00000377655:p.Leu368Pro		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.L368P	ENST00000394095.2	37	c.1103	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	A	0.042	-1.281737	0.01398	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.18174	2.23;2.24;2.24;2.23;2.23;2.23	5.77	-0.508	0.11980	.	1.376850	0.04616	N	0.401116	T	0.14270	0.0345	L	0.31664	0.95	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.09377	0.003;0.0;0.004;0.002	T	0.37549	-0.9701	10	0.28530	T	0.3	5.1307	10.9517	0.47334	0.4847:0.0:0.5153:0.0	.	204;302;335;368	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	P	368;303;302;204;204;335	ENSP00000377655:L368P;ENSP00000377654:L303P;ENSP00000313624:L302P;ENSP00000377651:L204P;ENSP00000350936:L204P;ENSP00000342159:L335P	ENSP00000313624:L302P	L	-	2	0	SENP7	102568179	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.185000	0.09684	-0.665000	0.05317	-2.096000	0.00365	CTA	SENP7	-	NULL	ENSG00000138468		0.383	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	-	0	67	0	A	NM_020654		101085489	-1	tier1	-	no_errors	ENST00000394095	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.000	G	G	101085489	A	G	101085489	3	3	116	1	0	0	0	0	1	0	0	0	14096	420	15	4	2113	4	SENP7	3	101085489	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	64550779	101085489	96936941	35	30905											
NR1I2	8856	genome.wustl.edu	37	chr3	119533916	119533916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacagtgttcaatgcggaGactggaacctgggagtgtgg	11	8	15	7	1	1	1	1	0	0	1	1	4	1	3	1	4	3	1	1	4	3	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:119533916G>T	ENST00000337940.4	+	6	1050	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	NR1I2_ENST00000466380.1_Missense_Mutation_p.E258D|NR1I2_ENST00000393716.2_Missense_Mutation_p.E295D	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	295	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	TCAATGCGGAGACTGGAACCT	0.597																																																	0													68	58	62					3																	119533916		2203	4300	6503	SO:0001583	missense	0			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.1002G>T	3.37:g.119533916G>T	ENSP00000336528:p.Glu334Asp		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.E334D	ENST00000337940.4	37	c.1002	CCDS2995.1	3	.	.	.	.	.	.	.	.	.	.	G	8.735	0.917580	0.17982	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.95001	-3.58;-3.58;-3.58	4.31	2.47	0.30058	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.244029	0.40728	N	0.001031	D	0.88551	0.6467	N	0.25286	0.73	0.34127	D	0.664766	B;P;B	0.42993	0.062;0.797;0.009	B;B;B	0.43990	0.02;0.438;0.023	D	0.86372	0.1724	10	0.19590	T	0.45	.	8.1152	0.30940	0.2065:0.0:0.7935:0.0	.	295;334;281	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	D	295;258;334	ENSP00000377319:E295D;ENSP00000420297:E258D;ENSP00000336528:E334D	ENSP00000336528:E334D	E	+	3	2	NR1I2	121016606	1.000000	0.71417	0.986000	0.45419	0.295000	0.27426	1.857000	0.39399	0.546000	0.28920	0.655000	0.94253	GAG	NR1I2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000144852		0.597	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	HGNC	protein_coding	OTTHUMT00000355126.1	-	0	70	0	G			119533916	1	tier1	-	no_errors	ENST00000337940	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	119533916	G	T	119533916	3	4	116	1	0	0	0	0	1	0	0	0	10659	933	33	3	1024	3	NR1I2	3	119533916	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	18448427	119533916	78488514	36	30906											
COPG	22820	genome.wustl.edu	37	chr3	128984416	128984416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttgagtataagcgcgctAtcgtggactgcatcatcagc	9	11	11	10	3	2	1	2	1	0	0	3	2	2	2	0	1	3	4	0	1	3	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:128984416A>G	ENST00000314797.6	+	14	1353	c.1249A>G	c.(1249-1251)Atc>Gtc	p.I417V		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	417					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)										TAAGCGCGCTATCGTGGACTG	0.517																																																	0													178	158	165					3																	128984416		2203	4300	6503	SO:0001583	missense	0			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1249A>G	3.37:g.128984416A>G	ENSP00000325002:p.Ile417Val		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.I417V	ENST00000314797.6	37	c.1249	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	A	18.49	3.636164	0.67130	.	.	ENSG00000181789	ENST00000314797	T	0.11930	2.73	6.14	6.14	0.99180	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.067105	0.64402	D	0.000010	T	0.28499	0.0705	L	0.50333	1.59	0.50171	D	0.999858	P	0.40032	0.699	P	0.58130	0.833	T	0.02121	-1.1210	10	0.18710	T	0.47	-9.3066	14.758	0.69583	1.0:0.0:0.0:0.0	.	417	Q9Y678	COPG_HUMAN	V	417	ENSP00000325002:I417V	ENSP00000325002:I417V	I	+	1	0	COPG	130467106	1.000000	0.71417	0.993000	0.49108	0.625000	0.37756	9.085000	0.94083	2.367000	0.80283	0.529000	0.55759	ATC	COPG1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu	ENSG00000181789		0.517	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	-	0	25	0	A	NM_016128		128984416	1	tier1	-	no_errors	ENST00000314797	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	G	G	128984416	A	G	128984416	3	3	116	1	0	0	0	0	1	0	0	0	3738	449	16	4	1303	4	COPG	3	128984416	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	9450500	128984416	69038014	37	30907											
CLDN18	51208	genome.wustl.edu	37	chr3	137729265	137729265	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaccgaatgcaggccctaTttcaccatcctgggacttcc	8	11	7	15	1	2	0	2	0	0	0	4	2	4	1	5	2	1	1	5	2	2	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:137729265T>A	ENST00000183605.5	+	1	424	c.198T>A	c.(196-198)taT>taA	p.Y66*	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	66					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCAGGCCCTATTTCACCATCC	0.612																																																	0													66	60	62					3																	137729265		2203	4300	6503	SO:0001587	stop_gained	0			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.198T>A	3.37:g.137729265T>A	ENSP00000183605:p.Tyr66*		A5PL21|Q96PH4	Nonsense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.Y66*	ENST00000183605.5	37	c.198	CCDS3095.1	3	.	.	.	.	.	.	.	.	.	.	T	32	5.178318	0.94846	.	.	ENSG00000066405	ENST00000183605;ENST00000536138	.	.	.	5.55	-1.24	0.09435	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1371	0.65295	0.0:0.5708:0.0:0.4292	.	.	.	.	X	66	.	ENSP00000183605:Y66X	Y	+	3	2	CLDN18	139211955	1.000000	0.71417	0.943000	0.38184	0.912000	0.54170	1.340000	0.33896	-0.159000	0.11021	-1.411000	0.01122	TAT	CLDN18	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000066405		0.612	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357199.2	-	0	52	0	T	NM_001002026		137729265	1	tier1	-	no_errors	ENST00000183605	ensembl	human	known	74_37	nonsense	41.94	36	26	SNP	0.896	A	A	137729265	T	A	137729265	4	1	116	1	0	0	0	0	0	1	0	0	3486	1500	52	5	424	5	CLDN18	3	137729265	Nonsense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	8744849	137729265	60293165	38	30908											
LEKR1	389170	genome.wustl.edu	37	chr3	156763371	156763371	+	Frame_Shift_Del	DEL	C	C	-																															atccaaattcccaacctgcgCggggtgtcaaaacccaccac																								rs144318565		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:156763371delC	ENST00000470811.1	+	14	2334	c.999delC	c.(997-999)cgcfs	p.R333fs	LEKR1_ENST00000356539.4_Frame_Shift_Del_p.R637fs			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	333										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCAACCTGCGCGGGGTGTCAA	0.552																																																	0													79	87	84					3																	156763371		2203	4300	6503	SO:0001589	frameshift_variant	0			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.999delC	3.37:g.156763371delC	ENSP00000418214:p.Arg333fs			Frame_Shift_Del	DEL	superfamily_Ribosomal_L29	p.V639fs	ENST00000470811.1	37	c.1911		3																																																																																			LEKR1	-	NULL	ENSG00000197980		0.552	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	HGNC	protein_coding	OTTHUMT00000351625.3		0	35	0	C	NM_001004316		156763371	1	tier1		no_errors	ENST00000356539	ensembl	human	known	74_37	frame_shift_del	35.29	22	12	DEL	0.000	-	-	156763371	C	-	156763371	7	5	116	1	0	1	0	1	0	0	0	0	8745	755	27	0	1957	0	LEKR1	3	156763371	Frame_Shift_Del	DEL	C	TCGA-LN-A4A6-01A-11D-A27G-09	19034106	156763371	41259059	39	30909											
NCEH1	57552	genome.wustl.edu	37	chr3	172351286	172351286	+	Silent	SNP	C	C	T	0	0	0	1	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	tacaggttttgatctagccaCttgatgtaactattcctagt	10	16	7	8	0	1	2	0	2	1	0	2	2	2	2	2	1	3	2	2	1	5	9			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:172351286C>T	ENST00000475381.1	-	5	1439	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	NCEH1_ENST00000538775.1_Silent_p.K442K|NCEH1_ENST00000543711.1_Silent_p.K269K|NCEH1_ENST00000273512.3_Silent_p.K434K			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	402					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GATCTAGCCACTTGATGTAAC	0.468																																																	0													100	101	101					3																	172351286		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.1206G>A	3.37:g.172351286C>T			B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Silent	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.K442	ENST00000475381.1	37	c.1326		3																																																																																			NCEH1	-	pirsf_Arylacetamide_deacetylase	ENSG00000144959		0.468	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NCEH1	HGNC	protein_coding	OTTHUMT00000346367.3	-	0	147	0	C	NM_020792		172351286	-1	tier1	-	no_errors	ENST00000538775	ensembl	human	known	74_37	silent	24.87	142	47	SNP	1.000	T	T	172351286	C	T	172351286	2	4	116	1	0	0	0	0	0	0	0	1	10254	564	20	3		3	NCEH1	3	172351286	Silent	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	15587915	172351286	25671144	40	30910											
ETV5	2119	genome.wustl.edu	37	chr3	185766490	185766490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccatgtccaggaggtaagCggggctgtcttcaaagtggg	8	9	16	8	1	2	0	1	0	1	0	4	1	4	1	2	5	1	2	2	5	2	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:185766490C>T	ENST00000306376.5	-	13	1717	c.1471G>A	c.(1471-1473)Gct>Act	p.A491T	ETV5_ENST00000434744.1_Missense_Mutation_p.A491T|ETV5_ENST00000537818.1_Missense_Mutation_p.A533T|ETV5_ENST00000480706.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	491					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)			AGGAGGTAAGCGGGGCTGTCT	0.602			T	"TMPRSS2, SCL45A3"	Prostate																																			Dom	yes		3	3q28	2119	ets variant gene 5		E	0													83	79	81					3																	185766490		2203	4300	6503	SO:0001583	missense	0			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.1471G>A	3.37:g.185766490C>T	ENSP00000306894:p.Ala491Thr		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.A533T	ENST00000306376.5	37	c.1597	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106742	0.37145	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.12147	2.75;2.75;2.71	6.16	5.28	0.74379	.	0.457705	0.25564	N	0.029813	T	0.12220	0.0297	L	0.39898	1.24	0.36935	D	0.892109	B;B	0.17268	0.001;0.021	B;B	0.09377	0.001;0.004	T	0.04307	-1.0961	10	0.51188	T	0.08	.	10.3948	0.44194	0.0:0.7943:0.1336:0.0721	.	491;533	P41161;B7Z7D7	ETV5_HUMAN;.	T	491;491;533	ENSP00000306894:A491T;ENSP00000413755:A491T;ENSP00000441737:A533T	ENSP00000306894:A491T	A	-	1	0	ETV5	187249184	0.825000	0.29262	0.989000	0.46669	0.951000	0.60555	1.286000	0.33273	2.937000	0.99478	0.650000	0.86243	GCT	ETV5	-	NULL	ENSG00000244405		0.602	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	-	0	58	0	C	NM_004454		185766490	-1	tier1	-	no_errors	ENST00000537818	ensembl	human	known	74_37	missense	38.57	43	27	SNP	0.512	T	T	185766490	C	T	185766490	3	4	116	1	0	0	0	0	1	0	0	0	5298	768	27	1	65	1	ETV5	3	185766490	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	13415204	185766490	12255940	41	30911											
CC2D2A	57545	genome.wustl.edu	37	chr4	15562218	15562218	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcttcttgctgatatgaTagtagaagaagaagttccca	12	15	8	6	0	2	5	0	2	2	3	3	5	3	5	1	0	1	3	1	0	6	8			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:15562218T>C	ENST00000503292.1	+	24	3167	c.2987T>C	c.(2986-2988)aTa>aCa	p.I996T	CC2D2A_ENST00000389652.5_Missense_Mutation_p.I947T|CC2D2A_ENST00000413206.1_Missense_Mutation_p.I996T|CC2D2A_ENST00000424120.1_Missense_Mutation_p.I996T	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	996					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GCTGATATGATAGTAGAAGAA	0.249																																																	0													35	34	34					4																	15562218		1784	4053	5837	SO:0001583	missense	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2987T>C	4.37:g.15562218T>C	ENSP00000421809:p.Ile996Thr		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	superfamily_C2_dom,smart_C2_dom	p.I996T	ENST00000503292.1	37	c.2987	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290521	0.59976	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.59	5.59	0.84812	.	0.551590	0.18346	N	0.144005	T	0.41834	0.1176	L	0.39898	1.24	0.80722	D	1	B;B	0.31625	0.332;0.141	B;B	0.27076	0.047;0.076	T	0.39722	-0.9600	10	0.72032	D	0.01	.	15.7742	0.78198	0.0:0.0:0.0:1.0	.	996;947	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	T	996;996;947;947;996;947	ENSP00000403465:I996T;ENSP00000398391:I996T;ENSP00000421809:I996T;ENSP00000374303:I947T	ENSP00000374303:I947T	I	+	2	0	CC2D2A	15171316	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	7.196000	0.77805	2.130000	0.65690	0.533000	0.62120	ATA	CC2D2A	-	NULL	ENSG00000048342		0.249	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	-	0	59	0	T	NM_001080522		15562218	1	tier1	-	no_errors	ENST00000413206	ensembl	human	known	74_37	missense	54.00	23	27	SNP	0.993	C	C	15562218	T	C	15562218	3	2	116	1	0	0	0	0	1	0	0	0	2735	1406	49	4	3276	4	CC2D2A	4	15562218	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09		15562218	175592058	42	30912											
PDS5A	23244	genome.wustl.edu	37	chr4	39915248	39915248	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taccgtccaagaaaacattgCcaaagaggacgattctgtgt	14	9	9	9	2	1	2	0	0	1	2	2	4	2	3	3	1	3	0	3	1	5	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:39915248C>T	ENST00000303538.8	-	9	1514	c.975G>A	c.(973-975)tgG>tgA	p.W325*	PDS5A_ENST00000503396.1_Nonsense_Mutation_p.W325*	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						GAAAACATTGCCAAAGAGGAC	0.368																																																	0													99	95	96					4																	39915248		1844	4089	5933	SO:0001587	stop_gained	0			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.975G>A	4.37:g.39915248C>T	ENSP00000303427:p.Trp325*			Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.W325*	ENST00000303538.8	37	c.975	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	44	10.818303	0.99472	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.8973	19.1535	0.93499	0.0:1.0:0.0:0.0	.	.	.	.	X	325	.	.	W	-	3	0	PDS5A	39591643	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.528000	0.85240	0.585000	0.79938	TGG	PDS5A	-	superfamily_ARM-type_fold	ENSG00000121892		0.368	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	-	0	29	0	C	NM_015200		39915248	-1	tier1	-	no_errors	ENST00000303538	ensembl	human	known	74_37	nonsense	26.09	17	6	SNP	1.000	T	T	39915248	C	T	39915248	4	4	116	1	0	0	0	0	0	1	0	0	11730	740	26	3	3171	3	PDS5A	4	39915248	Nonsense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	24353030	39915248	151239028	43	30913											
TMEM33	55161	genome.wustl.edu	37	chr4	41946898	41946898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattctgaaattcattgcttGcaatgaaatattcctgatgc	12	16	6	7	0	2	3	1	3	1	0	3	3	3	3	1	0	3	2	1	0	5	7	rs372203207		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:41946898G>T	ENST00000504986.1	+	5	850	c.485G>T	c.(484-486)tGc>tTc	p.C162F	TMEM33_ENST00000325094.5_Missense_Mutation_p.C162F|TMEM33_ENST00000513702.1_Missense_Mutation_p.C162F	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	162						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						TTCATTGCTTGCAATGAAATA	0.343																																																	0													95	96	96					4																	41946898		2202	4299	6501	SO:0001583	missense	0			BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.485G>T	4.37:g.41946898G>T	ENSP00000422473:p.Cys162Phe		B3KSS8|Q9H953	Missense_Mutation	SNP	pfam_UPF0121	p.C162F	ENST00000504986.1	37	c.485	CCDS3464.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.65|15.65	2.897659|2.897659	0.52121|0.52121	.|.	.|.	ENSG00000109133|ENSG00000109133	ENST00000513558|ENST00000504986;ENST00000508448;ENST00000513702;ENST00000325094	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49270|0.49270	0.1547|0.1547	N|N	0.13140|0.13140	0.3|0.3	0.80722|0.80722	D|D	1|1	.|D	.|0.55172	.|0.97	.|P	.|0.55667	.|0.781	T|T	0.36335|0.36335	-0.9752|-0.9752	5|9	.|0.10111	.|T	.|0.7	-10.3702|-10.3702	19.2675|19.2675	0.93996|0.93996	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|162	.|P57088	.|TMM33_HUMAN	S|F	96|162	.|.	.|ENSP00000441455:C162F	A|C	+|+	1|2	0|0	TMEM33|TMEM33	41641655|41641655	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	GCA|TGC	TMEM33	-	pfam_UPF0121	ENSG00000109133		0.343	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM33	HGNC	protein_coding	OTTHUMT00000216834.2	-	0	50	0	G	NM_018126		41946898	1	tier1	-	no_errors	ENST00000325094	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	41946898	G	T	41946898	3	4	116	1	0	0	0	0	1	0	0	0	16203	1319	46	3	503	3	TMEM33	4	41946898	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	2031650	41946898	149207378	44	30914											
OCIAD1	54940	genome.wustl.edu	37	chr4	48859371	48859372	+	Frame_Shift_Ins	INS	-	-	A																															cctatgcatgaaagagtgccINSaaaaaaagaaggtatgatag																										TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:48859371_48859372insA	ENST00000381473.3	+	8	1107_1108	c.689_690insA	c.(688-693)ccaaaafs	p.PK230fs	OCIAD1_ENST00000508293.1_Frame_Shift_Ins_p.PK230fs|OCIAD1_ENST00000513391.2_Frame_Shift_Ins_p.PK230fs|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000396448.2_Intron|OCIAD1_ENST00000509122.1_Frame_Shift_Ins_p.PK203fs|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000264312.7_Frame_Shift_Ins_p.PK230fs|OCIAD1_ENST00000425583.2_Intron|OCIAD1_ENST00000444354.2_Intron	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	230						endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GAAAGAGTGCCAAAAAAAGAAG	0.302																																																	0																																										SO:0001589	frameshift_variant	0			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.696dupA	4.37:g.48859378_48859378dupA	ENSP00000370882:p.Pro230fs		C9K030|G8JLN7|Q9BZE8	Frame_Shift_Ins	INS	pfam_OCIA	p.E233fs	ENST00000381473.3	37	c.689_690	CCDS3484.1	4																																																																																			OCIAD1	-	NULL	ENSG00000109180		0.302	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	HGNC	protein_coding	OTTHUMT00000361812.3		0	54	0	-	NM_017830		48859372	1	tier1		no_errors	ENST00000264312	ensembl	human	known	74_37	frame_shift_ins	45.45	24	20	INS	1.000:0.300	A	A	48859372	-	A	48859371	7	5	116	1	0	1	1	0	0	0	0	0	10856	594	21	0	751	0	OCIAD1	4	48859371	Frame_Shift_Ins	INS	-	TCGA-LN-A4A6-01A-11D-A27G-09	6912473	48859371	142294905	45	30915											
ANKRD17	26057	genome.wustl.edu	37	chr4	73951038	73951038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgttaaagttagcagctgCgggtgctcctccaaggggtg	7	11	14	9	1	1	0	0	0	1	0	3	0	3	0	2	3	4	5	2	3	4	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:73951038C>T	ENST00000358602.4	-	30	7203	c.7087G>A	c.(7087-7089)Gca>Aca	p.A2363T	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A2112T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2250T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2363					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)			TTAGCAGCTGCGGGTGCTCCT	0.448																																																	0													156	165	162					4																	73951038		2203	4300	6503	SO:0001583	missense	0			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.7087G>A	4.37:g.73951038C>T	ENSP00000351416:p.Ala2363Thr		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.A2363T	ENST00000358602.4	37	c.7087	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	C	11.04	1.523254	0.27299	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.67171	-0.25;-0.24;-0.2	5.81	-11.5	0.00074	.	0.832693	0.10755	N	0.637806	T	0.46833	0.1413	N	0.22421	0.69	0.09310	N	0.999995	B;B;B;B	0.12630	0.006;0.006;0.003;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.001	T	0.55082	-0.8196	10	0.06236	T	0.91	.	25.2045	0.99993	0.0:0.85:0.0:0.15	.	2362;2112;2363;2250	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	2363;1770;2112;2250;747	ENSP00000351416:A2363T;ENSP00000332265:A2112T;ENSP00000427151:A2250T	ENSP00000332265:A2112T	A	-	1	0	ANKRD17	74169902	0.000000	0.05858	0.011000	0.14972	0.713000	0.41058	-1.377000	0.02558	-2.569000	0.00469	-0.290000	0.09829	GCA	ANKRD17	-	NULL	ENSG00000132466		0.448	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1		0	43	0	C	NM_032217		73951038	-1			no_errors	ENST00000358602	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.005	T	T	73951038	C	T	73951038	3	4	116	1	0	0	0	0	1	0	0	0	646	768	27	1	744	1	ANKRD17	4	73951038	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	25091667	73951038	117203238	46	30916											
TBCK	93627	genome.wustl.edu	37	chr4	106967751	106967751	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaggagatgggatggtGaggaggcctgttggctttat	8	13	17	3	0	0	3	0	2	0	1	0	6	0	5	1	6	0	2	1	6	1	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:106967751G>T	ENST00000273980.5	-	27	3105	c.2658C>A	c.(2656-2658)ctC>ctA	p.L886L	TBCK_ENST00000394708.2_Silent_p.L886L|TBCK_ENST00000432496.2_Silent_p.L886L|TBCK_ENST00000361687.4_Silent_p.L823L|TBCK_ENST00000394706.3_Silent_p.L847L					TBC1 domain containing kinase									p.L886L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATGGGATGGTGAGGAGGCCTG	0.423																																																	1	Substitution - coding silent(1)	lung(1)											124	120	121					4																	106967751		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2658C>A	4.37:g.106967751G>T				Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom	p.L886	ENST00000273980.5	37	c.2658	CCDS54788.1	4																																																																																			TBCK	-	smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000145348		0.423	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCK	HGNC	protein_coding	OTTHUMT00000253953.4		0	33	0	G	NM_033115		106967751	-1			no_errors	ENST00000273980	ensembl	human	known	74_37	silent	6.67	42	3	SNP	1.000	T	T	106967751	G	T	106967751	2	4	116	1	0	0	0	0	0	0	0	1	15683	1277	45	3		3	TBCK	4	106967751	Silent	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	33016713	106967751	84186525	47	30917											
SCLT1	132320	genome.wustl.edu	37	chr4	129809878	129809878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctgcctgacttagacGcctttgaagtctgttggctt	5	16	9	11	1	3	3	0	2	3	1	3	3	3	3	2	1	1	2	2	1	2	5	rs531031008		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:129809878G>T	ENST00000281142.5	-	20	2463	c.1960C>A	c.(1960-1962)Cgt>Agt	p.R654S	SCLT1_ENST00000434680.1_Missense_Mutation_p.R273S|SCLT1_ENST00000503215.1_Missense_Mutation_p.R250S|SCLT1_ENST00000439369.2_Missense_Mutation_p.R141S|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	654					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGACTTAGACGCCTTTGAAGT	0.388																																																	0													148	137	141					4																	129809878		2203	4300	6503	SO:0001583	missense	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1960C>A	4.37:g.129809878G>T	ENSP00000281142:p.Arg654Ser		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.R654S	ENST00000281142.5	37	c.1960	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118778	0.56505	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215	T;T;T	0.58797	0.31;3.02;3.02	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	L	0.29908	0.895	0.41536	D	0.988483	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.85130	0.997;0.997;0.997;0.992	T	0.62558	-0.6829	9	.	.	.	-7.9101	14.9642	0.71179	0.0:0.0:1.0:0.0	.	141;273;654;250	Q96NL6-3;Q96NL6-2;Q96NL6;D6RBP0	.;.;SCLT1_HUMAN;.	S	654;273;141;250	ENSP00000281142:R654S;ENSP00000401539:R273S;ENSP00000424029:R250S	.	R	-	1	0	SCLT1	130029328	0.996000	0.38824	0.994000	0.49952	0.958000	0.62258	3.555000	0.53727	2.491000	0.84063	0.557000	0.71058	CGT	SCLT1	-	NULL	ENSG00000151466		0.388	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2		0	38	0	G	NM_144643		129809878	-1			no_errors	ENST00000281142	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.997	T	T	129809878	G	T	129809878	3	4	116	1	0	0	0	0	1	0	0	0	13951	1087	38	2	114	2	SCLT1	4	129809878	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	22842127	129809878	61344398	48	30918											
PCDH18	54510	genome.wustl.edu	37	chr4	138452077	138452077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttctccattcagcccaGaatccttgtcctgaactctg	8	14	5	14	0	3	2	1	1	2	1	6	2	5	2	4	0	2	0	4	0	3	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:138452077G>T	ENST00000344876.4	-	1	1552	c.1166C>A	c.(1165-1167)tCt>tAt	p.S389Y	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.S169Y|PCDH18_ENST00000412923.2_Missense_Mutation_p.S389Y	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	389	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATTCAGCCCAGAATCCTTGTC	0.353																																																	0													79	84	83					4																	138452077		2203	4300	6503	SO:0001583	missense	0			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.1166C>A	4.37:g.138452077G>T	ENSP00000355082:p.Ser389Tyr		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S389Y	ENST00000344876.4	37	c.1166	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303695	0.81136	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.53640	0.61;0.61;0.61	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.000000	0.42548	D	0.000693	T	0.74465	0.3720	M	0.86097	2.795	0.80722	D	1	D;D;D	0.67145	0.996;0.964;0.996	D;P;D	0.76071	0.987;0.792;0.964	T	0.76358	-0.2988	10	0.72032	D	0.01	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	169;389;389	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	Y	389;389;169	ENSP00000355082:S389Y;ENSP00000390688:S389Y;ENSP00000425903:S169Y	ENSP00000355082:S389Y	S	-	2	0	PCDH18	138671527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.885000	0.87282	2.868000	0.98415	0.557000	0.71058	TCT	PCDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000189184		0.353	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1		0	36	0	G	NM_019035		138452077	-1			no_errors	ENST00000344876	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	138452077	G	T	138452077	3	4	116	1	0	0	0	0	1	0	0	0	11552	942	33	3	2257	3	PCDH18	4	138452077	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	8642199	138452077	52702199	49	30919											
DNAH5	1767	genome.wustl.edu	37	chr5	13871845	13871845	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccaaatgtgattgtagcgTttgaagcaatccatggatgt	11	13	11	6	1	0	2	0	2	0	0	1	3	1	3	2	1	3	3	2	1	4	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:13871845T>G	ENST00000265104.4	-	23	3530	c.3426A>C	c.(3424-3426)aaA>aaC	p.K1142N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1142	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATTGTAGCGTTTGAAGCAAT	0.343									Kartagener syndrome																																								0													93	102	99					5																	13871845		2203	4300	6503	SO:0001583	missense	0	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.3426A>C	5.37:g.13871845T>G	ENSP00000265104:p.Lys1142Asn		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1142N	ENST00000265104.4	37	c.3426	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315092	0.23908	.	.	ENSG00000039139	ENST00000265104	T	0.24538	1.85	5.99	3.62	0.41486	.	0.241597	0.47093	D	0.000244	T	0.18593	0.0446	L	0.42632	1.34	0.33940	D	0.643146	B	0.02656	0.0	B	0.08055	0.003	T	0.17048	-1.0382	10	0.26408	T	0.33	.	6.1465	0.20289	0.1269:0.1353:0.0:0.7378	.	1142	Q8TE73	DYH5_HUMAN	N	1142	ENSP00000265104:K1142N	ENSP00000265104:K1142N	K	-	3	2	DNAH5	13924845	0.062000	0.20869	0.940000	0.37924	0.965000	0.64279	0.326000	0.19646	0.518000	0.28383	0.533000	0.62120	AAA	DNAH5	-	NULL	ENSG00000039139		0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	65	0	T	NM_001369		13871845	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	22.08	60	17	SNP	0.605	G	G	13871845	T	G	13871845	3	3	116	1	0	0	0	0	1	0	0	0	4618	1722	60	4	10676	4	DNAH5	5	13871845	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09		13871845	167043415	50	30920											
C5orf42	65250	genome.wustl.edu	37	chr5	37196019	37196019	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctgctccaggtctaaaaAatgcgatacctcctttacag	12	10	7	12	1	1	0	0	0	1	0	3	1	3	0	3	1	5	2	3	1	5	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:37196019A>T	ENST00000508244.1	-	20	3845	c.3752T>A	c.(3751-3753)tTt>tAt	p.F1251Y	C5orf42_ENST00000274258.7_Missense_Mutation_p.F132Y|C5orf42_ENST00000425232.2_Missense_Mutation_p.F1251Y			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1251						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)			AGGTCTAAAAAATGCGATACC	0.388																																																	0													107	103	104					5																	37196019		2203	4300	6503	SO:0001583	missense	0				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.3752T>A	5.37:g.37196019A>T	ENSP00000421690:p.Phe1251Tyr		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.F1251Y	ENST00000508244.1	37	c.3752	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359743	0.61403	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.39787	1.52;1.52;1.06;1.1	5.21	4.03	0.46877	.	0.000000	0.46442	D	0.000296	T	0.32526	0.0832	L	0.32530	0.975	0.28985	N	0.88838	P;P	0.46142	0.687;0.873	B;B	0.40477	0.259;0.33	T	0.21518	-1.0243	10	0.66056	D	0.02	.	11.5966	0.50977	0.8663:0.0:0.0:0.1337	.	1251;132	E9PH94;Q9H799	.;CE042_HUMAN	Y	1251;1251;132;299;132	ENSP00000421690:F1251Y;ENSP00000389014:F1251Y;ENSP00000274258:F132Y;ENSP00000424223:F299Y	ENSP00000274258:F132Y	F	-	2	0	C5orf42	37231776	1.000000	0.71417	0.900000	0.35374	0.072000	0.16883	6.141000	0.71744	0.909000	0.36697	0.533000	0.62120	TTT	C5orf42	-	NULL	ENSG00000197603		0.388	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0	38	0	A	NM_023073		37196019	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	11.39	70	9	SNP	0.992	T	T	37196019	A	T	37196019	3	4	116	1	0	0	0	0	1	0	0	0	2308	14	1	5	5969	5	C5orf42	5	37196019	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	23324174	37196019	143719241	51	30921											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41000790	41000790	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcacttacaactccaatcTtggggttgggatcccaaagg	11	9	11	10	0	1	0	0	0	1	0	3	2	3	1	2	4	3	2	2	4	4	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:41000790T>G	ENST00000399564.4	-	38	4790	c.4340A>C	c.(4339-4341)aAg>aCg	p.K1447T	MROH2B_ENST00000506092.2_Missense_Mutation_p.K1002T	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1447																	AACTCCAATCTTGGGGTTGGG	0.493																																																	0													63	66	65					5																	41000790		1897	4118	6015	SO:0001583	missense	0				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.4340A>C	5.37:g.41000790T>G	ENSP00000382476:p.Lys1447Thr		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K1447T	ENST00000399564.4	37	c.4340	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291402	0.40494	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.65732	-0.17;-0.17	5.66	3.25	0.37280	Armadillo-like helical (1);Armadillo-type fold (1);	0.481862	0.20277	N	0.095523	T	0.50990	0.1648	L	0.34521	1.04	0.29323	N	0.867203	D	0.56287	0.975	P	0.48400	0.576	T	0.43621	-0.9380	10	0.14252	T	0.57	.	7.5981	0.28061	0.0:0.1691:0.0:0.8309	.	1447	Q7Z745	HTRB2_HUMAN	T	1002;1152;1447	ENSP00000441504:K1002T;ENSP00000382476:K1447T	ENSP00000296803:K1152T	K	-	2	0	HEATR7B2	41036547	0.992000	0.36948	1.000000	0.80357	0.989000	0.77384	1.708000	0.37899	0.505000	0.28104	0.533000	0.62120	AAG	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.493	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0	21	0	T	NM_173489		41000790	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	17.78	37	8	SNP	1.000	G	G	41000790	T	G	41000790	3	3	116	1	0	0	0	0	1	0	0	0	7062	1609	56	4	437	4	HEATR7B2	5	41000790	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	3804771	41000790	139914470	52	30922											
SKIV2L2	23517	genome.wustl.edu	37	chr5	54637600	54637600	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcattatatgagagattcagGtatattcagtgttgaaatgt	13	16	9	3	0	3	3	3	2	0	1	3	4	3	3	0	1	0	2	0	1	5	7			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:54637600G>T	ENST00000230640.5	+	7	1035		c.e7+1		SKIV2L2_ENST00000545714.1_Splice_Site	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)						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)				AGAGATTCAGGTATATTCAGT	0.313																																					Melanoma(2;92 134 23744 29976 33782)												0													85	88	87					5																	54637600		2202	4294	6496	SO:0001630	splice_region_variant	0			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.781+1G>T	5.37:g.54637600G>T			Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Splice_Site	SNP	-	e7+1	ENST00000230640.5	37	c.781+1	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782317	0.90282	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5885	0.91200	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SKIV2L2	54673357	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.931000	0.87625	2.678000	0.91216	0.655000	0.94253	.	SKIV2L2	-	-	ENSG00000039123		0.313	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	-	0	63	0	G		Intron	54637600	1	tier1	-	no_errors	ENST00000230640	ensembl	human	known	74_37	splice_site	5.88	64	4	SNP	1.000	T	T	54637600	G	T	54637600	5	4	116	1	0	0	0	0	0	0	1	0	14405	1275	44	3	808	3	SKIV2L2	5	54637600	Splice_Site	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	13636810	54637600	126277660	53	30923											
WDR36	134430	genome.wustl.edu	37	chr5	110434486	110434486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccctttggagaccacattAtctctgttgatactgatggc	10	13	8	10	0	1	3	0	2	1	1	2	4	1	3	2	2	2	1	2	2	3	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:110434486A>G	ENST00000513710.2	+	4	530	c.526A>G	c.(526-528)Atc>Gtc	p.I176V	WDR36_ENST00000505303.1_Missense_Mutation_p.I120V|WDR36_ENST00000506538.2_Missense_Mutation_p.I176V			Q8NI36	WDR36_HUMAN	WD repeat domain 36	176					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)		AGACCACATTATCTCTGTTGA	0.318																																																	0													144	137	139					5																	110434486		2202	4299	6501	SO:0001583	missense	0			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.526A>G	5.37:g.110434486A>G	ENSP00000424628:p.Ile176Val		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I176V	ENST00000513710.2	37	c.526	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	A	16.38	3.107653	0.56291	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303;ENST00000504122	T;T;T;T	0.33865	1.69;1.69;3.41;1.39	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045727	0.85682	D	0.000000	T	0.31451	0.0797	L	0.28054	0.825	0.80722	D	1	B	0.28900	0.227	B	0.32393	0.145	T	0.14337	-1.0476	10	0.87932	D	0	-13.6579	16.0011	0.80292	1.0:0.0:0.0:0.0	.	176	Q8NI36	WDR36_HUMAN	V	176;176;120;47	ENSP00000423067:I176V;ENSP00000424628:I176V;ENSP00000422158:I120V;ENSP00000426509:I47V	ENSP00000426509:I47V	I	+	1	0	WDR36	110462385	1.000000	0.71417	0.985000	0.45067	0.950000	0.60333	6.069000	0.71209	2.177000	0.69029	0.528000	0.53228	ATC	WDR36	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000134987		0.318	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3	-	0	13	0	A	NM_139281		110434486	1	tier1	-	no_errors	ENST00000506538	ensembl	human	known	74_37	missense	57.14	6	8	SNP	0.999	G	G	110434486	A	G	110434486	3	3	116	1	0	0	0	0	1	0	0	0	17339	449	16	4	540	4	WDR36	5	110434486	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	55796886	110434486	70480774	54	30924											
GFRA3	2676	genome.wustl.edu	37	chr5	137600203	137600203	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggcctggagacagctGttcatgagtcggctttctgt	5	13	12	11	1	2	2	1	1	1	1	4	3	3	2	2	3	1	3	2	3	0	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:137600203G>A	ENST00000274721.3	-	2	372	c.126C>T	c.(124-126)aaC>aaT	p.N42N	GFRA3_ENST00000378362.3_Silent_p.N42N	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	42					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGAGACAGCTGTTCATGAGTC	0.547																																																	0													64	61	62					5																	137600203		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.126C>T	5.37:g.137600203G>A			B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.N42	ENST00000274721.3	37	c.126	CCDS4201.1	5																																																																																			GFRA3	-	prints_GDNF_rcpt_A3	ENSG00000146013		0.547	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	-	0	72	0	G	NM_001496		137600203	-1	tier1	-	no_errors	ENST00000274721	ensembl	human	known	74_37	silent	13.16	66	10	SNP	0.177	A	A	137600203	G	A	137600203	2	1	116	1	0	0	0	0	0	0	0	1	6375	1368	48	3		3	GFRA3	5	137600203	Silent	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	27165717	137600203	43315057	55	30925											
PCDHB16	57717	genome.wustl.edu	37	chr5	140562523	140562523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatagatataaatgaccattCtcccatgttcactgaaaagg	15	11	7	8	0	2	3	1	2	1	1	3	4	2	3	2	1	0	1	2	1	6	5	rs536825329		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:140562523C>T	ENST00000361016.2	+	1	1544	c.389C>T	c.(388-390)tCt>tTt	p.S130F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	130	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(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)			AATGACCATTCTCCCATGTTC	0.408													C|||	1	0.000199681	0	0	5008	,	,		19705	0		0.001	False		,,,				2504	0																0													44	46	45					5																	140562523		2203	4300	6503	SO:0001583	missense	0			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.389C>T	5.37:g.140562523C>T	ENSP00000354293:p.Ser130Phe		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S130F	ENST00000361016.2	37	c.389	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825388	0.71143	.	.	ENSG00000196963	ENST00000361016	T	0.20881	2.04	4.69	3.82	0.43975	Cadherin (2);Cadherin conserved site (1);Cadherin-like (1);	0.249318	0.21201	N	0.078471	T	0.51975	0.1706	M	0.91972	3.26	0.36938	D	0.892259	P	0.38800	0.648	P	0.58077	0.832	T	0.62671	-0.6805	10	0.52906	T	0.07	.	12.6842	0.56938	0.0:0.9193:0.0:0.0807	.	130	Q9NRJ7	PCDBG_HUMAN	F	130	ENSP00000354293:S130F	ENSP00000354293:S130F	S	+	2	0	PCDHB16	140542707	0.105000	0.21958	0.635000	0.29338	0.664000	0.39144	3.876000	0.56115	0.959000	0.37980	0.655000	0.94253	TCT	PCDHB16	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196963		0.408	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1		0	22	0	C	NM_020957		140562523	1			no_errors	ENST00000361016	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.984	T	T	140562523	C	T	140562523	3	4	116	1	0	0	0	0	1	0	0	0	11580	913	32	3	391	3	PCDHB16	5	140562523	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	2962320	140562523	40352737	56	30926											
FAT2	2196	genome.wustl.edu	37	chr5	150946655	150946655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatcactccggagaaatgaTttagatcaaaatactctagt	16	12	6	7	1	3	3	2	1	1	2	4	4	4	3	1	1	1	0	1	1	7	5			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:150946655T>C	ENST00000261800.5	-	1	1850	c.1838A>G	c.(1837-1839)aAt>aGt	p.N613S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	613	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGAAATGATTTAGATCAAA	0.408																																																	0													107	109	108					5																	150946655		2203	4300	6503	SO:0001583	missense	0			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.1838A>G	5.37:g.150946655T>C	ENSP00000261800:p.Asn613Ser		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.N613S	ENST00000261800.5	37	c.1838	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	T	16.32	3.088955	0.55968	.	.	ENSG00000086570	ENST00000261800	T	0.40756	1.02	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.256680	0.33346	N	0.005003	T	0.60983	0.2311	M	0.67569	2.06	0.45777	D	0.998668	D	0.64830	0.994	P	0.62298	0.9	T	0.63202	-0.6690	10	0.56958	D	0.05	.	16.0518	0.80769	0.0:0.0:0.0:1.0	.	613	Q9NYQ8	FAT2_HUMAN	S	613	ENSP00000261800:N613S	ENSP00000261800:N613S	N	-	2	0	FAT2	150926848	1.000000	0.71417	0.087000	0.20705	0.721000	0.41392	6.211000	0.72182	2.191000	0.70037	0.533000	0.62120	AAT	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.408	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	39	0	T	NM_001447		150946655	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	54.76	19	23	SNP	0.954	C	C	150946655	T	C	150946655	3	2	116	1	0	0	0	0	1	0	0	0	5712	1493	52	4	11303	4	FAT2	5	150946655	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	10384132	150946655	29968605	57	30927											
LARP1	23367	genome.wustl.edu	37	chr5	154181697	154181697	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgacgaggagatggagcagaTggatgggcggaagaacacct	13	5	17	6	2	0	4	0	1	0	3	0	9	0	7	1	5	2	1	1	5	2	0			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:154181697T>C	ENST00000336314.4	+	11	1640	c.1616T>C	c.(1615-1617)aTg>aCg	p.M539T		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	616					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)			ATGGAGCAGATGGATGGGCGG	0.507																																																	0													169	154	159					5																	154181697		2203	4300	6503	SO:0001583	missense	0			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.1616T>C	5.37:g.154181697T>C	ENSP00000336721:p.Met539Thr		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.M539T	ENST00000336314.4	37	c.1616	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622142	0.46840	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248	T;T;T	0.30448	1.97;1.53;1.56	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	L	0.42245	1.32	0.80722	D	1	B;B	0.28880	0.226;0.104	B;B	0.26517	0.039;0.07	T	0.06356	-1.0831	10	0.13853	T	0.58	-21.2395	16.8061	0.85666	0.0:0.0:0.0:1.0	.	616;539	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	T	539;616;411	ENSP00000336721:M539T;ENSP00000428589:M616T;ENSP00000429904:M411T	ENSP00000336721:M539T	M	+	2	0	LARP1	154161890	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.228000	0.72288	2.367000	0.80283	0.528000	0.53228	ATG	LARP1	-	NULL	ENSG00000155506		0.507	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1		0	44	0	T	NM_033551		154181697	1			no_errors	ENST00000336314	ensembl	human	known	74_37	missense	12.00	44	6	SNP	1.000	C	C	154181697	T	C	154181697	3	2	116	1	0	0	0	0	1	0	0	0	8656	1464	51	4	1658	4	LARP1	5	154181697	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	3235042	154181697	26733563	58	30928											
NSD1	64324	genome.wustl.edu	37	chr5	176683973	176683973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatccatacctgttttgtatGtaagcagagtggggaagatg	12	12	12	5	0	0	2	0	0	0	2	1	3	1	3	2	2	2	4	2	2	5	5			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:176683973G>T	ENST00000439151.2	+	13	4832	c.4787G>T	c.(4786-4788)tGt>tTt	p.C1596F	NSD1_ENST00000354179.4_Missense_Mutation_p.C1327F|NSD1_ENST00000347982.4_Missense_Mutation_p.C1327F|NSD1_ENST00000361032.4_Missense_Mutation_p.C1493F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1596					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)		TGTTTTGTATGTAAGCAGAGT	0.388			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													120	111	114					5																	176683973		2203	4300	6503	SO:0001583	missense	0	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.4787G>T	5.37:g.176683973G>T	ENSP00000395929:p.Cys1596Phe		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.C1596F	ENST00000439151.2	37	c.4787	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638448	0.87760	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58	5.33	5.33	0.75918	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000003	D	0.99115	0.9695	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;0.999	D	0.99349	1.0914	10	0.87932	D	0	.	19.3848	0.94553	0.0:0.0:1.0:0.0	.	1327;1493;1596	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	F	1327;1596;1327;1493	ENSP00000346111:C1327F;ENSP00000395929:C1596F;ENSP00000343209:C1327F;ENSP00000354310:C1493F	ENSP00000343209:C1327F	C	+	2	0	NSD1	176616579	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.809000	0.99208	2.649000	0.89929	0.650000	0.86243	TGT	NSD1	-	smart_Znf_PHD	ENSG00000165671		0.388	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	-	0	55	0	G	NM_172349		176683973	1	tier1	-	no_errors	ENST00000439151	ensembl	human	known	74_37	missense	52.24	32	35	SNP	1.000	T	T	176683973	G	T	176683973	3	4	116	1	0	0	0	0	1	0	0	0	10708	1377	48	3	4833	3	NSD1	5	176683973	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	22502276	176683973	4231287	59	30929											
B4GALT7	11285	genome.wustl.edu	37	chr5	177036632	177036632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgggcggggccccctGcactgtcctcaacatcatgt	5	10	12	14	1	3	0	2	0	1	0	4	0	4	0	3	3	2	1	3	3	1	0			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:177036632G>A	ENST00000029410.5	+	6	1031	c.920G>A	c.(919-921)tGc>tAc	p.C307Y	RP11-1277A3.1_ENST00000499900.2_RNA	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	307					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	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)			GGGGCCCCCTGCACTGTCCTC	0.602																																																	0													73	68	69					5																	177036632		2202	4300	6502	SO:0001583	missense	0			AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"Beta 4-glycosyltransferases"	930	protein-coding gene	gene with protein product	"galactosyltransferase I"	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.920G>A	5.37:g.177036632G>A	ENSP00000029410:p.Cys307Tyr		B3KN39|Q9UHN2	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.C307Y	ENST00000029410.5	37	c.920	CCDS4429.1	5	.	.	.	.	.	.	.	.	.	.	.	22.2	4.260125	0.80246	.	.	ENSG00000027847	ENST00000029410;ENST00000541139	T	0.28895	1.59	5.21	5.21	0.72293	.	0.088367	0.85682	D	0.000000	T	0.44350	0.1289	M	0.81802	2.56	0.80722	D	1	D	0.54047	0.964	P	0.46917	0.531	T	0.46400	-0.9194	10	0.38643	T	0.18	-43.0933	16.596	0.84796	0.0:0.0:1.0:0.0	.	307	Q9UBV7	B4GT7_HUMAN	Y	307;193	ENSP00000029410:C307Y	ENSP00000029410:C307Y	C	+	2	0	B4GALT7	176969238	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.838000	0.92115	2.586000	0.87340	0.561000	0.74099	TGC	B4GALT7	-	NULL	ENSG00000027847		0.602	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT7	HGNC	protein_coding	OTTHUMT00000253421.1	-	0	39	0	G	NM_007255		177036632	1	tier1	-	no_errors	ENST00000029410	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A	A	177036632	G	A	177036632	3	1	116	1	0	0	0	0	1	0	0	0	1277	1319	46	3	942	3	B4GALT7	5	177036632	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	352659	177036632	3878628	60	30930											
ZNF354A	6940	genome.wustl.edu	37	chr5	178139089	178139089	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcttcgatatgaattttaTaatgattagtaagggatgac	13	15	8	5	1	1	3	0	3	1	0	2	5	1	4	1	1	0	1	1	1	6	7			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:178139089T>C	ENST00000335815.2	-	5	1987	c.1790A>G	c.(1789-1791)tAt>tGt	p.Y597C		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	597					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)		ATGAATTTTATAATGATTAGT	0.363																																																	0													62	66	65					5																	178139089		2202	4300	6502	SO:0001583	missense	0			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.1790A>G	5.37:g.178139089T>C	ENSP00000337122:p.Tyr597Cys		Q9UNJ8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y597C	ENST00000335815.2	37	c.1790	CCDS4438.1	5	.	.	.	.	.	.	.	.	.	.	T	8.513	0.866919	0.17250	.	.	ENSG00000169131	ENST00000335815	T	0.06449	3.3	4.47	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	L	0.35542	1.07	0.27671	N	0.94676	B	0.09022	0.002	B	0.04013	0.001	T	0.33445	-0.9868	9	0.87932	D	0	-10.4622	4.6842	0.12750	0.1689:0.095:0.0:0.7361	.	597	O60765	Z354A_HUMAN	C	597	ENSP00000337122:Y597C	ENSP00000337122:Y597C	Y	-	2	0	ZNF354A	178071695	.	.	0.888000	0.34837	0.151000	0.21798	.	.	0.322000	0.23283	0.533000	0.62120	TAT	ZNF354A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169131		0.363	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354A	HGNC	protein_coding	OTTHUMT00000253481.1	-	0	28	0	T	NM_005649		178139089	-1	tier1	-	no_errors	ENST00000335815	ensembl	human	known	74_37	missense	57.89	15	22	SNP	0.922	C	C	178139089	T	C	178139089	3	2	116	1	0	0	0	0	1	0	0	0	17912	1406	49	4	31	4	ZNF354A	5	178139089	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	1102457	178139089	2776171	61	30931											
HIST1H3D	8351	genome.wustl.edu	37	chr6	26197139	26197139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagtcactcgcttggcgtGaatggcgcataggttggtgt	7	12	15	7	3	1	1	1	1	0	0	2	2	1	1	0	4	0	3	0	4	3	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:26197139G>T	ENST00000356476.2	-	1	339	c.340C>A	c.(340-342)Cac>Aac	p.H114N	HIST1H3D_ENST00000377831.5_Missense_Mutation_p.H114N|HIST1H2BF_ENST00000359985.1_5'Flank			P68431	H31_HUMAN	histone cluster 1, H3d	114					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(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CGCTTGGCGTGAATGGCGCAT	0.567																																					GBM(108;3816 4467)												0													101	90	94					6																	26197139		2203	4300	6503	SO:0001583	missense	0			Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"Histones / Replication-dependent"	4767	protein-coding gene	gene with protein product		602811	"H3 histone family, member B", "histone 1, H3d"	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.340C>A	6.37:g.26197139G>T	ENSP00000366999:p.His114Asn		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.H114N	ENST00000356476.2	37	c.340	CCDS4590.1	6	.	.	.	.	.	.	.	.	.	.	.	19.32	3.805686	0.70682	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.55760	0.5;0.5	4.14	4.14	0.48551	.	.	.	.	.	T	0.61198	0.2328	.	.	.	0.40332	D	0.978939	.	.	.	.	.	.	T	0.68834	-0.5304	6	0.87932	D	0	.	15.7714	0.78173	0.0:0.0:1.0:0.0	.	.	.	.	N	114	ENSP00000366999:H114N;ENSP00000367062:H114N	ENSP00000366999:H114N	H	-	1	0	HIST1H3D	26305118	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.346000	0.65992	2.013000	0.59113	0.561000	0.74099	CAC	HIST1H3D	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000197409		0.567	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3D	HGNC	protein_coding	OTTHUMT00000040096.1	-	0	91	0	G	NM_003530		26197139	-1	tier1	-	no_errors	ENST00000356476	ensembl	human	known	74_37	missense	47.52	53	48	SNP	1.000	T	T	26197139	G	T	26197139	3	4	116	1	0	0	0	0	1	0	0	0	7185	1290	45	3	74	3	HIST1H3D	6	26197139	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09		26197139	144917928	62	30932											
HIST1H2AL	8332	genome.wustl.edu	37	chr6	27833153	27833153	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgggacgcggcaagcaGggaggcaaagctcgcgccaa	11	3	16	11	5	0	0	0	0	0	0	2	2	0	2	1	4	2	4	1	4	3	0			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:27833153G>A	ENST00000357320.2	+	1	120	c.21G>A	c.(19-21)caG>caA	p.Q7Q		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	7						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GCGGCAAGCAGGGAGGCAAAG	0.572																																																	0													84	94	91					6																	27833153		2203	4300	6503	SO:0001819	synonymous_variant	0			X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"Histones / Replication-dependent"	4730	protein-coding gene	gene with protein product		602793	"H2A histone family, member I", "histone 1, H2al"	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.21G>A	6.37:g.27833153G>A			P02261|Q2M1R2|Q76PA6	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.Q7	ENST00000357320.2	37	c.21	CCDS4634.1	6																																																																																			HIST1H2AL	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000198374		0.572	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AL	HGNC	protein_coding	OTTHUMT00000040160.1	-	0	53	0	G	NM_003511		27833153	1	tier1	-	no_errors	ENST00000357320	ensembl	human	known	74_37	silent	7.69	60	5	SNP	0.996	A	A	27833153	G	A	27833153	2	1	116	1	0	0	0	0	0	0	0	1	7165	991	35	3		3	HIST1H2AL	6	27833153	Silent	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	1636014	27833153	143281914	63	30933											
MDC1	9656	genome.wustl.edu	37	chr6	30680031	30680031	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctctagagataccacaAgcagctttgctggtccccca	9	10	7	15	0	1	1	0	0	1	1	3	2	3	1	4	1	4	3	4	1	3	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:30680031A>T	ENST00000376406.3	-	5	2335	c.1688T>A	c.(1687-1689)cTt>cAt	p.L563H	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.L563H|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	563	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGATACCACAAGCAGCTTTGC	0.512								Other conserved DNA damage response genes																																									0													69	66	67					6																	30680031		1509	2708	4217	SO:0001583	missense	0			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.1688T>A	6.37:g.30680031A>T	ENSP00000365588:p.Leu563His		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.L563H	ENST00000376406.3	37	c.1688	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	A	8.926	0.962177	0.18583	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02682	4.27;4.2	3.9	2.07	0.26955	.	.	.	.	.	T	0.01254	0.0041	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.52316	0.924;0.924;0.952;0.924	P;P;B;P	0.50192	0.534;0.534;0.43;0.634	T	0.49688	-0.8913	9	0.62326	D	0.03	-0.7135	5.4702	0.16666	0.2721:0.0:0.7279:0.0	.	563;435;563;563	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	H	563;563;563;435	ENSP00000365588:L563H;ENSP00000365587:L563H	ENSP00000365587:L563H	L	-	2	0	MDC1	30788010	0.968000	0.33430	0.349000	0.25694	0.084000	0.17831	1.810000	0.38932	0.305000	0.22832	-0.464000	0.05259	CTT	MDC1	-	NULL	ENSG00000137337		0.512	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	-	0	23	0	A	NM_014641		30680031	-1	tier1	-	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	59.09	18	26	SNP	0.190	T	T	30680031	A	T	30680031	3	4	116	1	0	0	0	0	1	0	0	0	9441	72	3	5	4625	5	MDC1	6	30680031	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	2846878	30680031	140435036	64	30934											
LY6G6F	259215	genome.wustl.edu	37	chr6	31675846	31675846	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggggctttctgagcccaggaGccgaagaccaagaatcatcc	11	6	12	12	1	2	3	1	1	1	2	3	5	3	4	4	3	2	1	4	3	3	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:31675846G>T	ENST00000375832.4	+	3	603	c.581G>T	c.(580-582)aGc>aTc	p.S194I	XXbac-BPG32J3.20_ENST00000461287.1_Intron|MEGT1_ENST00000503322.1_Missense_Mutation_p.S194I|LY6G6F_ENST00000556581.1_Missense_Mutation_p.S194I	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GAGCCCAGGAGCCGAAGACCA	0.582																																																	0													121	134	130					6																	31675846		1508	2709	4217	SO:0001583	missense	0				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"Immunoglobulin superfamily / V-set domain containing"	13933	protein-coding gene	gene with protein product		611404	"chromosome 6 open reading frame 21"	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.581G>T	6.37:g.31675846G>T	ENSP00000364992:p.Ser194Ile		B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S194I	ENST00000375832.4	37	c.581	CCDS34403.1	6	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043760	0.19748	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.19938	2.4;2.11;2.4	5.15	-0.718	0.11205	.	1.754730	0.02625	N	0.103640	T	0.04137	0.0115	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.003	T	0.35251	-0.9796	10	0.45353	T	0.12	-0.77	3.5875	0.07977	0.1024:0.4285:0.305:0.1641	.	194;194	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	I	194	ENSP00000452432:S194I;ENSP00000364992:S194I;ENSP00000421232:S194I	ENSP00000364992:S194I	S	+	2	0	XXbac-BPG32J3.19;LY6G6F	31783825	0.000000	0.05858	0.004000	0.12327	0.464000	0.32679	-0.212000	0.09319	0.131000	0.18576	0.591000	0.81541	AGC	LY6G6F	-	NULL	ENSG00000204424		0.582	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6F	HGNC	protein_coding	OTTHUMT00000076532.2		0	45	0	G	NM_001003693		31675846	1			no_errors	ENST00000556581	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.000	T	T	31675846	G	T	31675846	3	4	116	1	0	0	0	0	1	0	0	0	9132	971	34	3	591	3	LY6G6F	6	31675846	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	995815	31675846	139439221	65	30935											
VTA1	51534	genome.wustl.edu	37	chr6	142510589	142510589	+	Missense_Mutation	SNP	A	A	T	1	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	aaacacaggaagtatgccagAtggaaggcaacatacatcca	18	5	9	9	0	0	1	0	0	0	1	1	3	1	3	2	3	4	2	2	3	6	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:142510589A>T	ENST00000367630.4	+	5	496	c.438A>T	c.(436-438)agA>agT	p.R146S	VTA1_ENST00000367621.1_Missense_Mutation_p.R88S|VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Missense_Mutation_p.R88S	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	146	Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGTATGCCAGATGGAAGGCAA	0.338																																																	0													108	110	109					6																	142510589		2203	4300	6503	SO:0001583	missense	0			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"chromosome 6 open reading frame 55", "Vps20-associated 1 homolog (S. cerevisiae)"	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.438A>T	6.37:g.142510589A>T	ENSP00000356602:p.Arg146Ser		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	NULL	p.R146S	ENST00000367630.4	37	c.438	CCDS5197.1	6	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621402	0.46736	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973;ENST00000427932	T;T;T	0.42900	0.96;0.96;0.96	5.46	0.389	0.16269	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.093430	0.64402	D	0.000002	T	0.23249	0.0562	L	0.38838	1.175	0.48135	D	0.999593	B;B	0.27700	0.186;0.082	B;B	0.40782	0.34;0.098	T	0.18555	-1.0333	10	0.66056	D	0.02	-17.5715	9.8211	0.40883	0.5165:0.0:0.4835:0.0	.	88;146	E7ETQ7;Q9NP79	.;VTA1_HUMAN	S	146;88;88;147	ENSP00000356602:R146S;ENSP00000356593:R88S;ENSP00000395767:R88S	ENSP00000356593:R88S	R	+	3	2	VTA1	142552282	0.977000	0.34250	0.998000	0.56505	0.981000	0.71138	0.128000	0.15810	0.026000	0.15269	-0.321000	0.08615	AGA	VTA1	-	NULL	ENSG00000009844		0.338	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTA1	HGNC	protein_coding	OTTHUMT00000042483.2	-	0	46	0	A	NM_016485		142510589	1	tier1	-	no_errors	ENST00000367630	ensembl	human	known	74_37	missense	41.27	37	26	SNP	0.989	T	T	142510589	A	T	142510589	3	4	116	1	0	0	0	0	1	0	0	0	17282	330	12	5	456	5	VTA1	6	142510589	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	110834743	142510589	28604478	66	30936											
C7orf28A	51622	genome.wustl.edu	37	chr7	5942299	5942299	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttacctcactagctttttaAtggtacatttctgaaagcca	11	16	5	9	0	2	1	1	1	1	0	2	1	2	1	2	1	4	2	2	1	5	8			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:5942299A>G	ENST00000325974.6	+	6	512	c.446A>G	c.(445-447)aAt>aGt	p.N149S	CCZ1_ENST00000537980.1_Missense_Mutation_p.N6S	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	149						lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						TAGCTTTTTAATGGTACATTT	0.318																																																	0													41	44	43					7																	5942299		2195	4288	6483	SO:0001583	missense	0			AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 28A"	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.446A>G	7.37:g.5942299A>G	ENSP00000325681:p.Asn149Ser		A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	pfam_DUF1712_fun	p.N149S	ENST00000325974.6	37	c.446	CCDS34597.1	7	.	.	.	.	.	.	.	.	.	.	A	17.46	3.396282	0.62177	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.73369	0.3578	M	0.68593	2.085	0.80722	D	1	D	0.55172	0.97	P	0.60286	0.872	T	0.70414	-0.4878	9	0.23302	T	0.38	-29.7858	15.1979	0.73108	1.0:0.0:0.0:0.0	.	149	P86790	CCZ1L_HUMAN	S	149;6	.	ENSP00000325681:N149S	N	+	2	0	CCZ1	5908825	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.423000	0.90264	2.194000	0.70268	0.528000	0.53228	AAT	CCZ1	-	pfam_DUF1712_fun	ENSG00000122674		0.318	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1	HGNC	protein_coding	OTTHUMT00000340391.1	-	0	75	0	A	NM_015622		5942299	1	tier1	-	no_errors	ENST00000325974	ensembl	human	known	74_37	missense	24.78	85	28	SNP	1.000	G	G	5942299	A	G	5942299	3	3	116	1	0	0	0	0	1	0	0	0	2390	101	4	4	468	4	C7orf28A	7	5942299	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09		5942299	153196364	67	30937											
C7orf16	10842	genome.wustl.edu	37	chr7	31732094	31732094	+	Silent	SNP	A	A	T	1	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	atgcagccactggaactctcAgaagacagactggacaagct	14	6	10	11	0	1	3	1	0	1	3	2	5	1	5	1	2	4	2	1	2	3	0			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:31732094A>T	ENST00000342032.3	+	2	667	c.39A>T	c.(37-39)tcA>tcT	p.S13S	PPP1R17_ENST00000409146.3_Silent_p.S13S	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	13					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										TGGAACTCTCAGAAGACAGAC	0.453																																																	0													116	101	106					7																	31732094		2203	4300	6503	SO:0001819	synonymous_variant	0			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.39A>T	7.37:g.31732094A>T			B4DE58|Q9UDQ0	Silent	SNP	NULL	p.S13	ENST00000342032.3	37	c.39	CCDS5436.1	7																																																																																			PPP1R17	-	NULL	ENSG00000106341		0.453	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R17	HGNC	protein_coding	OTTHUMT00000250498.1	-	0	81	0	A	NM_006658		31732094	1	tier1	-	no_errors	ENST00000342032	ensembl	human	known	74_37	silent	30.00	70	30	SNP	0.997	T	T	31732094	A	T	31732094	2	4	116	1	0	0	0	0	0	0	0	1	2385	175	7	5		5	C7orf16	7	31732094	Silent	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	25789795	31732094	127406569	68	30938											
DBNL	28988	genome.wustl.edu	37	chr7	44098544	44098544	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattttcaagcagaaggagaGggccatgtccaccacctcca	12	7	10	12	0	1	2	1	0	0	2	3	4	3	2	5	2	1	1	5	2	2	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:44098544G>C	ENST00000448521.1	+	9	895	c.797G>C	c.(796-798)aGg>aCg	p.R266T	DBNL_ENST00000490734.2_Missense_Mutation_p.R172T|DBNL_ENST00000452943.1_Missense_Mutation_p.R242T|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Missense_Mutation_p.R218T|DBNL_ENST00000468694.1_Missense_Mutation_p.R275T|DBNL_ENST00000440166.1_Missense_Mutation_p.R163T|DBNL_ENST00000494774.1_Missense_Mutation_p.R267T	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	266					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						CAGAAGGAGAGGGCCATGTCC	0.627																																					NSCLC(68;573 1327 18604 34760 37992)												0													114	101	105					7																	44098544		2203	4300	6503	SO:0001583	missense	0			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.797G>C	7.37:g.44098544G>C	ENSP00000411701:p.Arg266Thr		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain	p.R275T	ENST00000448521.1	37	c.824	CCDS34623.1	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.0|23.0|23.0	4.368011|4.368011|4.368011	0.82463|0.82463|0.82463	.|.|.	.|.|.	ENSG00000136279|ENSG00000136279|ENSG00000136279	ENST00000432854|ENST00000452661|ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475	T|.|T;T;T;T;T;T;T	0.26810|.|0.33438	1.71|.|1.88;2.17;2.19;2.19;1.41;1.89;2.18	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	.|.|.	.|.|0.046501	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.52484|0.52484|0.52484	0.1737|0.1737|0.1737	M|M|M	0.66939|0.66939|0.66939	2.045|2.045|2.045	0.41855|0.41855|0.41855	D|D|D	0.990191|0.990191|0.990191	.|.|D;D;D;D;D;D;D;P;D	.|.|0.89917	.|.|1.0;0.998;0.996;1.0;0.97;0.998;0.997;0.952;0.992	.|.|D;P;D;D;D;P;D;P;P	.|.|0.85130	.|.|0.94;0.859;0.954;0.997;0.921;0.859;0.933;0.663;0.903	T|T|T	0.53301|0.53301|0.53301	-0.8458|-0.8458|-0.8458	7|5|10	0.51188|.|0.62326	T|.|D	0.08|.|0.03	-47.9447|-47.9447|-47.9447	12.2999|12.2999|12.2999	0.54868|0.54868|0.54868	0.0797:0.0:0.9203:0.0|0.0797:0.0:0.9203:0.0|0.0797:0.0:0.9203:0.0	.|.|.	.|.|163;215;196;218;172;242;275;266;267	.|.|B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.|.|.;.;.;.;.;.;.;DBNL_HUMAN;.	D|R|T	194|6|266;218;163;242;275;267;172;196	ENSP00000398931:E194D|.|ENSP00000411701:R266T;ENSP00000416421:R218T;ENSP00000415173:R163T;ENSP00000405343:R242T;ENSP00000417653:R275T;ENSP00000419992:R267T;ENSP00000417749:R172T	ENSP00000398931:E194D|.|ENSP00000415173:R163T	E|G|R	+|+|+	3|1|2	2|0|0	DBNL|DBNL|DBNL	44065069|44065069|44065069	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	2.629000|2.629000|2.629000	0.46485|0.46485|0.46485	2.684000|2.684000|2.684000	0.91462|0.91462|0.91462	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAG|GGG|AGG	DBNL	-	NULL	ENSG00000136279		0.627	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBNL	HGNC	protein_coding	OTTHUMT00000339572.2		0	45	0	G	NM_014063		44098544	1			no_errors	ENST00000468694	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	C	C	44098544	G	C	44098544	3	2	116	1	0	0	0	0	1	0	0	0	4264	1000	35	5	858	5	DBNL	7	44098544	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	12366450	44098544	115040119	69	30939											
ERV3	2086	genome.wustl.edu	37	chr7	64452815	64452816	+	Missense_Mutation	DNP	CA	CA	AG																															tggtaagatttacagaattgCaagtgcttgttttacaatct																										TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:64452815_64452816CA>AG	ENST00000394323.2	-	2	1089_1090	c.589_590TG>CT	c.(589-591)TGc>CTc	p.C197L	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	197						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						tacagaattgcaagtgcttgtt	0.446																																																	0																																										SO:0001583	missense	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)", "endogenous retroviral sequence 3"	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.589_590delinsAG	7.37:g.64452815_64452816delinsAG	ENSP00000391594:p.Cys197Leu			Missense_Mutation	SNP	NULL	p.C197F|p.C197R	ENST00000394323.2	37	c.590|c.589	CCDS47595.1	7																																																																																			ERV3-1	-	NULL	ENSG00000213462		0.446	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	-	0	33	0	C|A	NM_001007253		64452815|64452816	-1	tier1	-	no_errors	ENST00000394323	ensembl	human	known	74_37	missense	16.13|18.75	25|26	5|6	SNP	0.475|0.453	A|G	AG	64452816	CA	AG	64452815	3	1	116	1	0	0	0	0	1	0	0	0	5261	710	25	3	1228	3	ERV3	7	64452815	Missense_Mutation	DNP	CA	TCGA-LN-A4A6-01A-11D-A27G-09	20354271	64452815	94685848	70	30940											
GUSB	2990	genome.wustl.edu	37	chr7	65444784	65444784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggtgagtgtgttgttgatggCgatagtgattcggagccggg	6	12	19	4	3	0	3	0	3	0	0	1	5	0	4	1	4	1	2	1	4	1	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:65444784C>T	ENST00000304895.4	-	3	641	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	GUSB_ENST00000345660.6_Missense_Mutation_p.A171T|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_Intron	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	171					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTGTTGATGGCGATAGTGATT	0.617																																																	0													176	175	175					7																	65444784		2203	4300	6503	SO:0001583	missense	0			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.511G>A	7.37:g.65444784C>T	ENSP00000302728:p.Ala171Thr		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.A171T	ENST00000304895.4	37	c.511	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582578	0.65992	.	.	ENSG00000169919	ENST00000304895;ENST00000345660	D;D	0.94828	-3.53;-3.53	5.23	5.23	0.72850	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94456	0.8216	M	0.76002	2.32	0.80722	D	1	D	0.58620	0.983	P	0.45639	0.488	D	0.93512	0.6854	10	0.29301	T	0.29	.	17.853	0.88754	0.0:1.0:0.0:0.0	.	171	P08236	BGLR_HUMAN	T	171	ENSP00000302728:A171T;ENSP00000340734:A171T	ENSP00000302728:A171T	A	-	1	0	GUSB	65082219	1.000000	0.71417	0.997000	0.53966	0.663000	0.39108	7.234000	0.78134	2.456000	0.83038	0.556000	0.70494	GCC	GUSB	-	pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like	ENSG00000169919		0.617	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	-	0	48	0	C	NM_000181		65444784	-1	tier1	-	no_errors	ENST00000304895	ensembl	human	known	74_37	missense	29.82	40	17	SNP	1.000	T	T	65444784	C	T	65444784	3	4	116	1	0	0	0	0	1	0	0	0	6929	768	27	1	1484	1	GUSB	7	65444784	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	991969	65444784	93693879	71	30941											
GTF2I	2969	genome.wustl.edu	37	chr7	74167460	74167460	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agactctcgaaagttgaaaaAgctagacagctaagagaaca	19	6	9	7	1	1	4	0	1	1	3	2	6	1	4	0	0	3	3	0	0	6	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:74167460A>T	ENST00000324896.4	+	29	2981	c.2592A>T	c.(2590-2592)aaA>aaT	p.K864N	GTF2I_ENST00000353920.4_Missense_Mutation_p.K844N|GTF2I_ENST00000416070.1_Missense_Mutation_p.K823N|GTF2I_ENST00000346152.4_Missense_Mutation_p.K843N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	864					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAGTTGAAAAAGCTAGACAGC	0.318																																																	0													11	10	10					7																	74167460		2121	4222	6343	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.2592A>T	7.37:g.74167460A>T	ENSP00000322542:p.Lys864Asn		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.K864N	ENST00000324896.4	37	c.2592	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816886	0.70912	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.99	-2.95	0.05564	.	0.148393	0.45606	D	0.000352	T	0.39517	0.1081	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.978;0.995;0.999;0.989	D;D;D;D;D	0.87578	0.995;0.971;0.994;0.998;0.98	T	0.11275	-1.0594	10	0.66056	D	0.02	-27.5998	12.689	0.56964	0.1405:0.0:0.7357:0.1238	.	842;823;844;843;864	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	N	864;859;844;843;823	ENSP00000322542:K864N;ENSP00000322671:K844N;ENSP00000322599:K843N;ENSP00000387651:K823N	ENSP00000322542:K864N	K	+	3	2	GTF2I	73805396	0.976000	0.34144	0.795000	0.32087	0.994000	0.84299	-0.013000	0.12678	-0.703000	0.05049	0.369000	0.22263	AAA	GTF2I	-	superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	ENSG00000077809		0.318	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1		0	67	0	A	NM_032999		74167460	1			no_errors	ENST00000324896	ensembl	human	known	74_37	missense	9.92	109	12	SNP	0.975	T	T	74167460	A	T	74167460	3	4	116	1	0	0	0	0	1	0	0	0	6894	69	3	5	2702	5	GTF2I	7	74167460	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	8722676	74167460	84971203	72	30942											
CACNA2D1	781	genome.wustl.edu	37	chr7	81591785	81591785	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcgtggaaaggtcaaaCtcaagagaaactgctgtaga	15	7	13	6	1	2	2	2	0	0	2	3	5	2	4	0	3	3	2	0	3	5	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:81591785C>G	ENST00000356253.5	-	35	3098	c.2843G>C	c.(2842-2844)aGt>aCt	p.S948T	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S936T|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S148T			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	948					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)	p.S936I(1)		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)	AAAGGTCAAACTCAAGAGAAA	0.333																																																	1	Substitution - Missense(1)	ovary(1)											44	45	45					7																	81591785		2203	4300	6503	SO:0001583	missense	0			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.2843G>C	7.37:g.81591785C>G	ENSP00000348589:p.Ser948Thr		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S948T	ENST00000356253.5	37	c.2843		7	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874817	0.72180	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.69926	-0.44;-0.44;-0.44	5.42	5.42	0.78866	.	0.043225	0.85682	D	0.000000	T	0.80308	0.4599	M	0.73962	2.25	0.41995	D	0.990865	D;P	0.62365	0.991;0.913	P;P	0.60173	0.87;0.771	T	0.80906	-0.1173	10	0.48119	T	0.1	-24.6262	19.2549	0.93943	0.0:1.0:0.0:0.0	.	148;936	B7Z658;P54289-2	.;.	T	936;955;948;148	ENSP00000349320:S936T;ENSP00000348589:S948T;ENSP00000443124:S148T	ENSP00000284088:S955T	S	-	2	0	CACNA2D1	81429721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.249000	0.78278	2.556000	0.86216	0.585000	0.79938	AGT	CACNA2D1	-	NULL	ENSG00000153956		0.333	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0	46	0	C			81591785	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	missense	20.69	46	12	SNP	1.000	G	G	81591785	C	G	81591785	3	3	116	1	0	0	0	0	1	0	0	0	2555	565	20	5	488	5	CACNA2D1	7	81591785	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	7424325	81591785	77546878	73	30943											
CHRM2	1129	genome.wustl.edu	37	chr7	136700551	136700551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagtttccacttccctgggCcattccaaagatgagaactc	11	10	7	13	0	0	2	0	1	0	2	4	3	3	2	4	1	1	1	4	1	2	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:136700551C>T	ENST00000445907.2	+	3	1467	c.939C>T	c.(937-939)ggC>ggT	p.G313G	CHRM2_ENST00000397608.3_Silent_p.G313G|CHRM2_ENST00000401861.1_Silent_p.G313G|CHRM2_ENST00000402486.3_Silent_p.G313G|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Silent_p.G313G|CHRM2_ENST00000320658.5_Silent_p.G313G|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	313					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|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)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTTCCCTGGGCCATTCCAAAG	0.463																																																	0													93	94	94					7																	136700551		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.939C>T	7.37:g.136700551C>T			Q4VBK6|Q9P1X9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.G313	ENST00000445907.2	37	c.939	CCDS5843.1	7																																																																																			CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181072		0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0	26	0	C			136700551	1	tier1	-	no_errors	ENST00000320658	ensembl	human	known	74_37	silent	50.00	11	11	SNP	1.000	T	T	136700551	C	T	136700551	2	4	116	1	0	0	0	0	0	0	0	1	3384	726	26	3		3	CHRM2	7	136700551	Silent	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	55108766	136700551	22438112	74	30944											
SLC7A2	6542	genome.wustl.edu	37	chr8	17412103	17412103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcccaatgcctcgtgtaAtctatgctatggcggaggat	8	14	10	9	2	1	0	0	0	1	0	3	2	2	2	2	3	2	2	2	3	4	5			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:17412103A>G	ENST00000494857.1	+	8	1308	c.1090A>G	c.(1090-1092)Atc>Gtc	p.I364V	SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000522656.1_Missense_Mutation_p.I364V|SLC7A2_ENST00000470360.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.I404V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	364				I -> N (in Ref. 1; BAA06271). {ECO:0000305}.	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)	GCCTCGTGTAATCTATGCTAT	0.408																																																	0													197	182	187					8																	17412103		2203	4300	6503	SO:0001583	missense	0			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.1090A>G	8.37:g.17412103A>G	ENSP00000419140:p.Ile364Val		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.I404V	ENST00000494857.1	37	c.1210	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614967	0.46631	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000004531	D;D;D	0.90004	-2.6;-2.6;-2.6	4.67	4.67	0.58626	Amino acid permease domain (1);	.	.	.	.	D	0.85331	0.5672	L	0.35644	1.08	0.80722	D	1	B;B	0.21071	0.051;0.002	B;B	0.29785	0.107;0.026	T	0.82462	-0.0445	9	0.45353	T	0.12	.	14.4308	0.67249	1.0:0.0:0.0:0.0	.	404;364	P52569-3;P52569	.;CTR2_HUMAN	V	364;364;404	ENSP00000419140:I364V;ENSP00000430464:I364V;ENSP00000004531:I404V	ENSP00000004531:I404V	I	+	1	0	SLC7A2	17456395	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	1.862000	0.54008	0.377000	0.23210	ATC	SLC7A2	-	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	ENSG00000003989		0.408	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3	-	0	63	0	A	NM_003046		17412103	1	tier1	-	no_errors	ENST00000004531	ensembl	human	known	74_37	missense	59.49	32	47	SNP	1.000	G	G	17412103	A	G	17412103	3	3	116	1	0	0	0	0	1	0	0	0	14742	101	4	4	1236	4	SLC7A2	8	17412103	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09		17412103	128951919	75	30945											
HGSNAT	138050	genome.wustl.edu	37	chr8	43046701	43046701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctggaaggcctgtggctgGgcttgacattcctcctgcca	5	11	13	12	0	0	1	0	1	0	0	2	2	2	2	4	4	2	3	4	4	1	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:43046701G>T	ENST00000458501.2	+	12	1297	c.1297G>T	c.(1297-1299)Ggc>Tgc	p.G433C	HGSNAT_ENST00000379644.4_Missense_Mutation_p.G405C|HGSNAT_ENST00000297798.7_Missense_Mutation_p.G137C|HGSNAT_ENST00000521576.1_Missense_Mutation_p.G122C			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	433					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)			CCTGTGGCTGGGCTTGACATT	0.612																																																	0													79	85	83					8																	43046701		2047	4194	6241	SO:0001583	missense	0				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.1297G>T	8.37:g.43046701G>T	ENSP00000389524:p.Gly433Cys		B4E2V0	Missense_Mutation	SNP	pfam_DUF1624	p.G433C	ENST00000458501.2	37	c.1297		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.303|9.303	1.053711|1.053711	0.19907|0.19907	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798|ENST00000522082;ENST00000524016	T;T;T;T|.	0.21543|.	2.33;2.35;2.01;2.0|.	5.24|5.24	0.528|0.528	0.17089|0.17089	.|.	0.935307|0.935307	0.09121|0.09121	N|N	0.845774|0.845774	T|T	0.11452|0.11452	0.0279|0.0279	N|N	0.01874|0.01874	-0.695|-0.695	0.21841|0.21841	N|N	0.999514|0.999514	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.27839|0.27839	-1.0062|-1.0062	10|7	0.32370|0.38643	T|T	0.25|0.18	-1.2323|-1.2323	6.7957|6.7957	0.23725|0.23725	0.0992:0.0:0.2765:0.6242|0.0992:0.0:0.2765:0.6242	.|.	433|.	Q68CP4|.	HGNAT_HUMAN|.	C|V	433;405;122;137|174;106	ENSP00000389524:G433C;ENSP00000368965:G405C;ENSP00000429029:G122C;ENSP00000297798:G137C|.	ENSP00000297798:G137C|ENSP00000430151:G174V	G|G	+|+	1|2	0|0	HGSNAT|HGSNAT	43165858|43165858	0.557000|0.557000	0.26546|0.26546	0.373000|0.373000	0.26003|0.26003	0.013000|0.013000	0.08279|0.08279	1.526000|1.526000	0.35964|0.35964	0.158000|0.158000	0.19367|0.19367	-0.188000|-0.188000	0.12872|0.12872	GGC|GGG	HGSNAT	-	NULL	ENSG00000165102		0.612	HGSNAT-202	KNOWN	basic	protein_coding	HGSNAT	HGNC	protein_coding		-	0	60	0	G	XM_372038		43046701	1	tier1	-	no_errors	ENST00000458501	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.545	T	T	43046701	G	T	43046701	3	4	116	1	0	0	0	0	1	0	0	0	7115	1232	43	3	1259	3	HGSNAT	8	43046701	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	25634598	43046701	103317321	76	30946											
NECAB1	64168	genome.wustl.edu	37	chr8	91962044	91962044	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccatttcagtatttctatAcagaagctttcaaatgaatc	13	16	4	8	0	3	2	2	1	1	1	5	2	4	2	1	0	2	2	1	0	6	7			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:91962044A>G	ENST00000417640.2	+	11	1207	c.870A>G	c.(868-870)atA>atG	p.I290M	NECAB1_ENST00000522820.1_Missense_Mutation_p.I39M|NECAB1_ENST00000521366.1_Missense_Mutation_p.I39M	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	290	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GTATTTCTATACAGAAGCTTT	0.323																																																	0													122	107	112					8																	91962044		1805	4084	5889	SO:0001583	missense	0			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.870A>G	8.37:g.91962044A>G	ENSP00000387380:p.Ile290Met		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.I290M	ENST00000417640.2	37	c.870	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	A	18.30	3.592943	0.66219	.	.	ENSG00000123119	ENST00000417640;ENST00000522820;ENST00000521366	T;T;T	0.30448	1.53;1.53;1.53	5.72	-2.31	0.06765	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.113761	0.64402	D	0.000012	T	0.25975	0.0633	L	0.34521	1.04	0.39410	D	0.966745	P	0.49696	0.927	P	0.49637	0.617	T	0.09058	-1.0692	10	0.62326	D	0.03	-19.5501	8.9201	0.35605	0.2004:0.0:0.0768:0.7228	.	290	Q8N987	NECA1_HUMAN	M	290;39;39	ENSP00000387380:I290M;ENSP00000428953:I39M;ENSP00000428632:I39M	ENSP00000387380:I290M	I	+	3	3	NECAB1	92031220	0.998000	0.40836	0.991000	0.47740	0.969000	0.65631	0.467000	0.22035	-0.184000	0.10567	-0.336000	0.08194	ATA	NECAB1	-	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel	ENSG00000123119		0.323	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	-	0	74	0	A	NM_022351		91962044	1	tier1	-	no_errors	ENST00000417640	ensembl	human	known	74_37	missense	41.94	35	26	SNP	0.976	G	G	91962044	A	G	91962044	3	3	116	1	0	0	0	0	1	0	0	0	10343	381	14	4	912	4	NECAB1	8	91962044	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	48915343	91962044	54401978	77	30947											
GRHL2	79977	genome.wustl.edu	37	chr8	102570829	102570829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	catcccggtgtcgggaatcaCggtggtgaaagctgaagatt	10	9	14	8	3	1	3	1	2	0	1	3	4	2	4	1	4	1	1	1	4	3	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:102570829C>T	ENST00000251808.3	+	4	805	c.467C>T	c.(466-468)aCg>aTg	p.T156M	GRHL2_ENST00000395927.1_Missense_Mutation_p.T140M	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	156					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TCGGGAATCACGGTGGTGAAA	0.522																																																	0													108	101	104					8																	102570829		2203	4300	6503	SO:0001583	missense	0			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.467C>T	8.37:g.102570829C>T	ENSP00000251808:p.Thr156Met		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.T156M	ENST00000251808.3	37	c.467	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	5.596	0.294720	0.10567	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.12255	2.7;2.7	5.33	4.25	0.50352	.	0.393637	0.33534	N	0.004805	T	0.13415	0.0325	L	0.47716	1.5	0.09310	N	0.999999	B;B	0.21147	0.052;0.045	B;B	0.12156	0.007;0.007	T	0.09840	-1.0656	10	0.41790	T	0.15	-13.484	12.7005	0.57029	0.0:0.8611:0.0:0.1389	.	156;156	B4DL28;Q6ISB3	.;GRHL2_HUMAN	M	156;140;156	ENSP00000251808:T156M;ENSP00000379260:T140M	ENSP00000251808:T156M	T	+	2	0	GRHL2	102640005	0.997000	0.39634	0.315000	0.25238	0.141000	0.21300	4.005000	0.57075	2.484000	0.83849	0.637000	0.83480	ACG	GRHL2	-	NULL	ENSG00000083307		0.522	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	-	0	37	0	C	NM_024915		102570829	1	tier1	-	no_errors	ENST00000251808	ensembl	human	known	74_37	missense	16.67	35	7	SNP	0.012	T	T	102570829	C	T	102570829	3	4	116	1	0	0	0	0	1	0	0	0	6791	536	19	1	481	1	GRHL2	8	102570829	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	10608785	102570829	43793193	78	30948											
CSMD3	114788	genome.wustl.edu	37	chr8	113299359	113299359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttctttcttctgagccatGaaggatgtaaccagtatcac	10	14	8	9	0	4	2	1	2	3	0	4	3	4	3	2	1	2	3	2	1	3	5			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:113299359G>A	ENST00000297405.5	-	58	9509	c.9265C>T	c.(9265-9267)Cat>Tat	p.H3089Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H3049Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H3019Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2920Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3089	Sushi 22. {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						TCTGAGCCATGAAGGATGTAA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													188	161	170					8																	113299359		2203	4300	6503	SO:0001583	missense	0			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.9265C>T	8.37:g.113299359G>A	ENSP00000297405:p.His3089Tyr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H3089Y	ENST00000297405.5	37	c.9265	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814897	0.32053	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.36	3.52	0.40303	Complement control module (2);Sushi/SCR/CCP (3);	0.317269	0.29908	N	0.010884	T	0.33644	0.0870	N	0.04787	-0.16	0.23411	N	0.997738	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.003	T	0.19811	-1.0294	10	0.06365	T	0.9	.	9.7007	0.40184	0.0743:0.0:0.7841:0.1416	.	2920;3089;3049	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	3049;3089;2359;2920;3019	ENSP00000345799:H3049Y;ENSP00000297405:H3089Y;ENSP00000341558:H2359Y;ENSP00000412263:H2920Y;ENSP00000343124:H3019Y	ENSP00000297405:H3089Y	H	-	1	0	CSMD3	113368535	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	1.949000	0.40313	0.708000	0.31955	0.650000	0.86243	CAT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	82	0	G	NM_052900		113299359	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	37.21	54	32	SNP	0.999	A	A	113299359	G	A	113299359	3	1	116	1	0	0	0	0	1	0	0	0	3955	1290	45	3	1914	3	CSMD3	8	113299359	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	10728530	113299359	33064663	79	30949											
CSMD3	114788	genome.wustl.edu	37	chr8	114290890	114290890	+	Missense_Mutation	SNP	A	A	C	1	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	caaacgtagtgagaacacagAtttggtacttgtcactggag	13	10	11	7	1	1	2	1	1	0	2	1	4	1	3	0	2	3	2	0	2	4	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:114290890A>C	ENST00000297405.5	-	3	689	c.445T>G	c.(445-447)Tct>Gct	p.S149A	CSMD3_ENST00000343508.3_Missense_Mutation_p.S109A|CSMD3_ENST00000352409.3_Missense_Mutation_p.S149A|CSMD3_ENST00000455883.2_Missense_Mutation_p.S149A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	149	CUB 1. {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						GAGAACACAGATTTGGTACTT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													124	109	115					8																	114290890		2203	4300	6503	SO:0001583	missense	0			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.445T>G	8.37:g.114290890A>C	ENSP00000297405:p.Ser149Ala		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S149A	ENST00000297405.5	37	c.445	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	18.06	3.539119	0.65085	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.18	5.18	0.71444	CUB (5);	0.194050	0.32175	N	0.006461	T	0.55641	0.1933	M	0.80746	2.51	0.31619	N	0.650514	P;D;B;B	0.56035	0.902;0.974;0.165;0.047	P;D;B;B	0.67725	0.817;0.953;0.082;0.026	T	0.66320	-0.5953	10	0.56958	D	0.05	.	13.2705	0.60157	1.0:0.0:0.0:0.0	.	149;149;149;109	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	A	109;149;149;149	ENSP00000345799:S109A;ENSP00000297405:S149A;ENSP00000412263:S149A;ENSP00000343124:S149A	ENSP00000297405:S149A	S	-	1	0	CSMD3	114360066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.668000	0.91158	2.071000	0.62044	0.443000	0.29094	TCT	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	31	0	A	NM_052900		114290890	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	C	C	114290890	A	C	114290890	3	2	116	1	0	0	0	0	1	0	0	0	3955	333	12	4	10954	4	CSMD3	8	114290890	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	991531	114290890	32073132	80	30950											
TOP1MT	116447	genome.wustl.edu	37	chr8	144400203	144400203	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttacggtcagcctgtcgaaGaggtcgtcccgggggtcctt	5	10	14	12	4	1	1	1	0	0	1	5	2	3	1	3	4	2	0	3	4	2	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:144400203G>C	ENST00000329245.4	-	9	1234	c.1200C>G	c.(1198-1200)ctC>ctG	p.L400L	TOP1MT_ENST00000523676.1_Silent_p.L302L|TOP1MT_ENST00000521193.1_Silent_p.L302L|TOP1MT_ENST00000519148.1_Silent_p.L302L	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	400					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCCTGTCGAAGAGGTCGTCCC	0.567																																																	0													75	81	79					8																	144400203		2203	4300	6503	SO:0001819	synonymous_variant	0			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1200C>G	8.37:g.144400203G>C			B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.L400	ENST00000329245.4	37	c.1200	CCDS6400.1	8																																																																																			TOP1MT	-	pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk	ENSG00000184428		0.567	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1MT	HGNC	protein_coding	OTTHUMT00000381247.3	-	0	59	0	G	NM_052963		144400203	-1	tier1	-	no_errors	ENST00000329245	ensembl	human	known	74_37	silent	50.59	41	43	SNP	1.000	C	C	144400203	G	C	144400203	2	2	116	1	0	0	0	0	0	0	0	1	16412	929	33	5		5	TOP1MT	8	144400203	Silent	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	30109313	144400203	1963819	81	30951											
IGFBPL1	347252	genome.wustl.edu	37	chr9	38414111	38414111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttctccacgtgatgactgGggtaggcacagccctcactt	7	11	10	13	1	2	2	1	2	1	0	3	2	2	2	2	3	1	2	2	3	1	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr9:38414111G>T	ENST00000377694.1	-	2	572	c.550C>A	c.(550-552)Cca>Aca	p.P184T		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	184	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GTGATGACTGGGGTAGGCACA	0.557																																																	0													135	111	119					9																	38414111		2203	4300	6503	SO:0001583	missense	0				CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"Immunoglobulin superfamily / I-set domain containing"	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.550C>A	9.37:g.38414111G>T	ENSP00000366923:p.Pro184Thr			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Kazal_dom,pfam_IGFBP-like,smart_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom	p.P184T	ENST00000377694.1	37	c.550	CCDS35017.1	9	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840758	0.71488	.	.	ENSG00000137142	ENST00000377694	T	0.73258	-0.73	5.02	5.02	0.67125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44285	U	0.000473	D	0.90075	0.6900	H	0.99299	4.505	0.39198	D	0.963092	D	0.69078	0.997	D	0.67900	0.954	D	0.94336	0.7566	10	0.87932	D	0	-2.2157	13.8611	0.63561	0.0:0.0:1.0:0.0	.	184	Q8WX77	IBPL1_HUMAN	T	184	ENSP00000366923:P184T	ENSP00000366923:P184T	P	-	1	0	IGFBPL1	38404111	1.000000	0.71417	0.958000	0.39756	0.938000	0.57974	4.417000	0.59822	2.339000	0.79563	0.563000	0.77884	CCA	IGFBPL1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom	ENSG00000137142		0.557	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFBPL1	HGNC	protein_coding	OTTHUMT00000052491.1	-	0	57	0	G	XM_294567		38414111	-1	tier1	-	no_errors	ENST00000377694	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.899	T	T	38414111	G	T	38414111	3	4	116	1	0	0	0	0	1	0	0	0	7612	1232	43	3	298	3	IGFBPL1	9	38414111	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09		38414111	102799320	82	30952											
RC3H2	54542	genome.wustl.edu	37	chr9	125639797	125639797	+	Silent	SNP	T	T	C	0	1	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	aatgtacaatttgttcctcgTggacaacccccttgctgtcg	8	13	8	12	2	0	0	0	0	0	0	3	1	1	1	3	1	3	3	3	1	4	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr9:125639797T>C	ENST00000373670.1	-	8	1878	c.1278A>G	c.(1276-1278)ccA>ccG	p.P426P	RC3H2_ENST00000357244.2_Silent_p.P426P|RC3H2_ENST00000423239.2_Silent_p.P426P|RC3H2_ENST00000373665.2_Silent_p.P426P|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000335387.5_Silent_p.P426P			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	426					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						TTGTTCCTCGTGGACAACCCC	0.408																																																	0													290	283	285					9																	125639797		1892	4109	6001	SO:0001819	synonymous_variant	0			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.1278A>G	9.37:g.125639797T>C			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.P426	ENST00000373670.1	37	c.1278	CCDS43874.1	9																																																																																			RC3H2	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000056586		0.408	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	-	0	28	0	T	NM_018835		125639797	-1	tier1	-	no_errors	ENST00000357244	ensembl	human	known	74_37	silent	46.30	28	25	SNP	0.962	C	C	125639797	T	C	125639797	2	2	116	1	0	0	0	0	0	0	0	1	13212	1683	59	4		4	RC3H2	9	125639797	Silent	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	87225686	125639797	15573634	83	30953											
SDCCAG3	10807	genome.wustl.edu	37	chr9	139303480	139303480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccgtgggctcctgacGggctctgcttagaacatttc	5	12	12	12	2	1	2	0	1	1	1	4	2	3	2	2	2	2	3	2	2	2	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr9:139303480G>A	ENST00000357365.3	-	3	389	c.260C>T	c.(259-261)cCg>cTg	p.P87L	PMPCA_ENST00000371720.1_5'Flank|SDCCAG3_ENST00000298537.7_Intron|PMPCA_ENST00000371717.3_5'Flank|PMPCA_ENST00000399219.3_5'Flank|SDCCAG3_ENST00000371725.3_Intron	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	87						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)		GGCTCCTGACGGGCTCTGCTT	0.493																																																	0													132	138	136					9																	139303480		1918	4136	6054	SO:0001583	missense	0			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.260C>T	9.37:g.139303480G>A	ENSP00000349929:p.Pro87Leu		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	NULL	p.P87L	ENST00000357365.3	37	c.260	CCDS43904.1	9	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544452	0.45280	.	.	ENSG00000165689	ENST00000357365;ENST00000371723	T;T	0.30714	2.36;1.52	3.86	2.02	0.26589	.	0.931233	0.08991	N	0.864442	T	0.34019	0.0883	L	0.57536	1.79	0.28339	N	0.921416	P	0.52463	0.953	P	0.46585	0.521	T	0.26326	-1.0106	10	0.72032	D	0.01	-9.3449	6.2968	0.21091	0.2111:0.0:0.7889:0.0	.	87	Q96C92	SDCG3_HUMAN	L	87;37	ENSP00000349929:P87L;ENSP00000360788:P37L	ENSP00000349929:P87L	P	-	2	0	SDCCAG3	138423301	0.051000	0.20477	0.142000	0.22268	0.660000	0.38997	0.882000	0.28186	0.588000	0.29660	0.655000	0.94253	CCG	SDCCAG3	-	NULL	ENSG00000165689		0.493	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	-	0	37	0	G	NM_006643		139303480	-1	tier1	-	no_errors	ENST00000357365	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.202	A	A	139303480	G	A	139303480	3	1	116	1	0	0	0	0	1	0	0	0	14003	1116	39	1	1079	1	SDCCAG3	9	139303480	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	13663683	139303480	1909951	84	30954											
KIF20B	9585	genome.wustl.edu	37	chr10	91478561	91478561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatttgtatgattgtcaatAtcagccaatgttatttagcc	13	16	6	6	0	2	1	2	1	0	0	2	1	2	1	2	0	2	2	2	0	7	7			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr10:91478561A>G	ENST00000371728.3	+	12	1431	c.1366A>G	c.(1366-1368)Atc>Gtc	p.I456V	KIF20B_ENST00000260753.4_Missense_Mutation_p.I456V|KIF20B_ENST00000416354.1_Missense_Mutation_p.I456V|KIF20B_ENST00000394289.2_Missense_Mutation_p.I456V	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	456	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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						GATTGTCAATATCAGCCAATG	0.318																																																	0													51	56	54					10																	91478561		2203	4298	6501	SO:0001583	missense	0			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.1366A>G	10.37:g.91478561A>G	ENSP00000360793:p.Ile456Val		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I456V	ENST00000371728.3	37	c.1366		10	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678810	0.68042	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.62	4.49	0.54785	Kinesin, motor domain (3);	0.000000	0.53938	D	0.000044	T	0.70020	0.3176	N	0.20328	0.56	0.50313	D	0.99986	P;B	0.40476	0.718;0.124	P;B	0.54815	0.761;0.098	T	0.64558	-0.6379	10	0.21540	T	0.41	-4.4946	9.5577	0.39348	0.8584:0.0:0.1416:0.0	.	456;456	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	V	456	ENSP00000260753:I456V;ENSP00000411545:I456V;ENSP00000377830:I456V;ENSP00000360793:I456V	ENSP00000260753:I456V	I	+	1	0	KIF20B	91468541	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.930000	0.63462	1.073000	0.40885	0.533000	0.62120	ATC	KIF20B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000138182		0.318	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	-	0	38	0	A	NM_016195		91478561	1	tier1	-	no_errors	ENST00000416354	ensembl	human	known	74_37	missense	55.88	15	19	SNP	1.000	G	G	91478561	A	G	91478561	3	3	116	1	0	0	0	0	1	0	0	0	8314	449	16	4	1408	4	KIF20B	10	91478561	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09		91478561	44056186	85	30955											
SLC18A2	6571	genome.wustl.edu	37	chr10	119027194	119027195	+	Frame_Shift_Ins	INS	-	-	A																															ctcttacagattccatttgcINSaaaaaacatttatggactca																										TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr10:119027194_119027195insA	ENST00000298472.5	+	13	1276_1277	c.1133_1134insA	c.(1132-1137)gcaaaafs	p.AK378fs	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	378				A -> P (in Ref. 1; AAA59877). {ECO:0000305}.	aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ATTCCATTTGCAAAAAACATTT	0.366																																																	0																																										SO:0001589	frameshift_variant	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1139dupA	10.37:g.119027200_119027200dupA	ENSP00000298472:p.Ala378fs		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Frame_Shift_Ins	INS	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.N380fs	ENST00000298472.5	37	c.1133_1134	CCDS7599.1	10																																																																																			SLC18A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165646		0.366	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1		0	56	0	-	NM_003054		119027195	1	tier1		no_errors	ENST00000298472	ensembl	human	known	74_37	frame_shift_ins	28.57	40	16	INS	1.000:0.993	A	A	119027195	-	A	119027194	7	5	116	1	0	1	1	0	0	0	0	0	14471	710	25	0	1179	0	SLC18A2	10	119027194	Frame_Shift_Ins	INS	-	TCGA-LN-A4A6-01A-11D-A27G-09	27548633	119027194	16507553	86	30956											
ANO3	63982	genome.wustl.edu	37	chr11	26569083	26569083	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatggattatttacaatgaaTaatagtcaagtaaggtaggc	16	13	9	3	0	1	1	1	1	0	0	1	2	1	2	0	3	1	2	0	3	10	8			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:26569083T>A	ENST00000256737.3	+	12	2127	c.1275T>A	c.(1273-1275)aaT>aaA	p.N425K	ANO3_ENST00000531568.1_Missense_Mutation_p.N279K|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.N409K|ANO3_ENST00000525139.1_Missense_Mutation_p.N409K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	425					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						TTACAATGAATAATAGTCAAG	0.338																																																	0													205	189	194					11																	26569083		2203	4300	6503	SO:0001583	missense	0			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.1275T>A	11.37:g.26569083T>A	ENSP00000256737:p.Asn425Lys		B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.N425K	ENST00000256737.3	37	c.1275	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	T	17.21	3.331614	0.60853	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.44	5.59	-2.93	0.05598	.	0.098626	0.64402	D	0.000002	T	0.52581	0.1743	N	0.17800	0.525	0.38087	D	0.936853	B;P	0.36183	0.372;0.542	B;B	0.39771	0.216;0.309	T	0.44907	-0.9297	10	0.28530	T	0.3	.	12.4467	0.55654	0.0:0.3853:0.0:0.6147	.	327;425	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	409;409;425;327;279	ENSP00000440737:N409K;ENSP00000432576:N409K;ENSP00000256737:N425K;ENSP00000432394:N279K	ENSP00000256737:N425K	N	+	3	2	ANO3	26525659	0.841000	0.29509	0.274000	0.24659	0.987000	0.75469	-0.011000	0.12721	-0.448000	0.07128	0.477000	0.44152	AAT	ANO3	-	pfam_Anoctamin	ENSG00000134343		0.338	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	-	0	59	0	T	NM_031418		26569083	1	tier1	-	no_errors	ENST00000256737	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.968	A	A	26569083	T	A	26569083	3	1	116	1	0	0	0	0	1	0	0	0	698	1403	49	5	1321	5	ANO3	11	26569083	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09		26569083	108437433	87	30957											
C11orf46	120534	genome.wustl.edu	37	chr11	30352585	30352585	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtcacacaggttttaagacTttgcaagaattgtcatcaaa	14	12	7	8	1	3	2	3	0	0	2	3	2	3	2	0	1	1	2	0	1	4	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:30352585T>A	ENST00000282032.3	+	2	305	c.90T>A	c.(88-90)acT>acA	p.T30T		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	30						cytoplasm (GO:0005737)											GTTTTAAGACTTTGCAAGAAT	0.348																																																	0													88	81	84					11																	30352585		2202	4299	6501	SO:0001819	synonymous_variant	0			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"chromosome 11 open reading frame 46"	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.90T>A	11.37:g.30352585T>A			Q5HYH9	Silent	SNP	NULL	p.T30	ENST00000282032.3	37	c.90	CCDS7869.1	11																																																																																			ARL14EP	-	NULL	ENSG00000152219		0.348	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL14EP	HGNC	protein_coding	OTTHUMT00000388129.1	-	0	19	0	T	NM_152316		30352585	1	tier1	-	no_errors	ENST00000282032	ensembl	human	known	74_37	silent	30.77	9	4	SNP	0.997	A	A	30352585	T	A	30352585	2	1	116	1	0	0	0	0	0	0	0	1	1648	1596	56	5		5	C11orf46	11	30352585	Silent	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	3783502	30352585	104653931	88	30958											
CKAP5	9793	genome.wustl.edu	37	chr11	46810291	46810291	+	Silent	SNP	T	T	C	0	1	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	atcctcactaatgcctggcaTggcatttcagttcggtccat	8	13	8	12	1	2	0	2	0	0	0	5	0	4	0	3	3	1	3	3	3	1	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:46810291T>C	ENST00000529230.1	-	16	1954	c.1908A>G	c.(1906-1908)ccA>ccG	p.P636P	CKAP5_ENST00000354558.3_Silent_p.P636P|CKAP5_ENST00000415402.1_Silent_p.P636P|CKAP5_ENST00000312055.5_Silent_p.P636P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	636					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						ATGCCTGGCATGGCATTTCAG	0.358																																					Ovarian(4;85 273 2202 4844 13323)												0													104	101	102					11																	46810291		2201	4299	6500	SO:0001819	synonymous_variant	0				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.1908A>G	11.37:g.46810291T>C			Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2	p.P636	ENST00000529230.1	37	c.1908	CCDS31477.1	11																																																																																			CKAP5	-	superfamily_ARM-type_fold	ENSG00000175216		0.358	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	-	0	25	0	T	NM_014756		46810291	-1	tier1	-	no_errors	ENST00000415402	ensembl	human	known	74_37	silent	40.74	16	11	SNP	0.990	C	C	46810291	T	C	46810291	2	2	116	1	0	0	0	0	0	0	0	1	3452	1451	51	4		4	CKAP5	11	46810291	Silent	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	16457706	46810291	88196225	89	30959											
OR8H1	219469	genome.wustl.edu	37	chr11	56058416	56058416	+	Silent	SNP	G	G	T	0	0	1	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	atcaatatcatccccacattGcccagcatagtaattaggta	14	11	5	11	0	2	0	2	0	0	0	3	0	3	0	3	1	2	3	3	1	6	6			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:56058416G>T	ENST00000313022.2	-	1	150	c.123C>A	c.(121-123)ggC>ggA	p.G41G		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TCCCCACATTGCCCAGCATAG	0.428																																																	0													195	183	187					11																	56058416		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.123C>A	11.37:g.56058416G>T			B2RNI7|Q6IFC5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G41	ENST00000313022.2	37	c.123	CCDS31526.1	11																																																																																			OR8H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181693		0.428	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	-	0	60	0	G	NM_001005199		56058416	-1	tier1	-	no_errors	ENST00000313022	ensembl	human	known	74_37	silent	20.00	44	11	SNP	0.086	T	T	56058416	G	T	56058416	2	4	116	1	0	0	0	0	0	0	0	1	11276	1306	46	3		3	OR8H1	11	56058416	Silent	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	9248125	56058416	78948100	90	30960											
AHNAK	79026	genome.wustl.edu	37	chr11	62297376	62297376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcatcttcaggtgccagtCtgggccatgaacctccacat	8	9	11	13	0	3	1	1	1	2	0	4	1	4	1	4	3	2	1	4	3	1	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:62297376C>T	ENST00000378024.4	-	5	4787	c.4513G>A	c.(4513-4515)Gac>Aac	p.D1505N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1505					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)				AGGTGCCAGTCTGGGCCATGA	0.483																																																	0													193	204	201					11																	62297376		2202	4299	6501	SO:0001583	missense	0			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.4513G>A	11.37:g.62297376C>T	ENSP00000367263:p.Asp1505Asn		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1505N	ENST00000378024.4	37	c.4513	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	c	18.30	3.592888	0.66219	.	.	ENSG00000124942	ENST00000378024	T	0.05382	3.45	4.34	4.34	0.51931	.	0.289604	0.33916	N	0.004426	T	0.13157	0.0319	M	0.77712	2.385	0.24732	N	0.993089	P	0.36768	0.569	B	0.40375	0.327	T	0.11108	-1.0601	10	0.23302	T	0.38	.	16.5107	0.84284	0.0:1.0:0.0:0.0	.	1505	Q09666	AHNK_HUMAN	N	1505	ENSP00000367263:D1505N	ENSP00000367263:D1505N	D	-	1	0	AHNAK	62053952	0.993000	0.37304	1.000000	0.80357	0.961000	0.63080	5.626000	0.67777	1.973000	0.57446	0.450000	0.29827	GAC	AHNAK	-	NULL	ENSG00000124942		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	99	0	C	NM_024060		62297376	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	23.64	84	26	SNP	1.000	T	T	62297376	C	T	62297376	3	4	116	1	0	0	0	0	1	0	0	0	414	913	32	3	13279	3	AHNAK	11	62297376	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	6238960	62297376	72709140	91	30961											
CDC42BPG	55561	genome.wustl.edu	37	chr11	64609344	64609344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtcatctctctgcagacGcagttctttcacctttgata	10	14	6	11	1	5	2	2	1	3	1	6	2	5	2	1	0	1	3	1	0	2	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:64609344G>A	ENST00000342711.5	-	2	192	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ctctgcagacgcagttctttc	0.602																																																	0													82	69	74					11																	64609344		2199	4297	6496	SO:0001583	missense	0			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.193C>T	11.37:g.64609344G>A	ENSP00000345133:p.Arg65Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R65C	ENST00000342711.5	37	c.193	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138655	0.77775	.	.	ENSG00000171219	ENST00000342711	T	0.71579	-0.58	4.46	3.53	0.40419	.	0.000000	0.52532	D	0.000067	D	0.84023	0.5381	M	0.85197	2.74	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	D	0.86070	0.1537	10	0.87932	D	0	.	11.9501	0.52950	0.0:0.0:0.813:0.187	.	65	Q6DT37	MRCKG_HUMAN	C	65	ENSP00000345133:R65C	ENSP00000345133:R65C	R	-	1	0	CDC42BPG	64365920	0.492000	0.26027	0.969000	0.41365	0.888000	0.51559	0.967000	0.29344	1.147000	0.42369	0.555000	0.69702	CGT	CDC42BPG	-	NULL	ENSG00000171219		0.602	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	-	0	21	0	G	XM_290516		64609344	-1	tier1	-	no_errors	ENST00000342711	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	A	A	64609344	G	A	64609344	3	1	116	1	0	0	0	0	1	0	0	0	3081	1087	38	1	4606	1	CDC42BPG	11	64609344	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	2311968	64609344	70397172	92	30962											
MRGPRF	116535	genome.wustl.edu	37	chr11	68773599	68773599	+	Missense_Mutation	SNP	A	A	T	1	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	agaggaccagcccgttgcccAccaggccacacaggcagagg	11	2	13	15	1	0	2	0	0	0	2	0	3	0	3	5	4	2	2	5	4	0	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:68773599A>T	ENST00000309099.6	-	3	561	c.179T>A	c.(178-180)gTg>gAg	p.V60E	MRGPRF_ENST00000441623.1_Missense_Mutation_p.V60E|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	60						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCCGTTGCCCACCAGGCCACA	0.612																																																	0													38	47	44					11																	68773599		2200	4294	6494	SO:0001583	missense	0			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.179T>A	11.37:g.68773599A>T	ENSP00000309782:p.Val60Glu		B3KV43|Q8NBK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V60E	ENST00000309099.6	37	c.179	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596150	0.66332	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.41065	1.01;1.01	4.97	3.84	0.44239	.	0.000000	0.40469	N	0.001089	T	0.28167	0.0695	N	0.24115	0.695	0.28622	N	0.908095	P	0.42827	0.791	B	0.40565	0.333	T	0.14587	-1.0467	10	0.72032	D	0.01	-33.4916	7.5725	0.27915	0.9019:0.0:0.0981:0.0	.	60	Q96AM1	MRGRF_HUMAN	E	60	ENSP00000403660:V60E;ENSP00000309782:V60E	ENSP00000309782:V60E	V	-	2	0	MRGPRF	68530175	0.005000	0.15991	1.000000	0.80357	0.998000	0.95712	0.865000	0.27940	0.741000	0.32674	0.459000	0.35465	GTG	MRGPRF	-	prints_GPCR_Rhodpsn	ENSG00000172935		0.612	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	-	0	53	0	A	NM_145015		68773599	-1	tier1	-	no_errors	ENST00000309099	ensembl	human	known	74_37	missense	6.83	150	11	SNP	0.994	T	T	68773599	A	T	68773599	3	4	116	1	0	0	0	0	1	0	0	0	9803	159	6	5	856	5	MRGPRF	11	68773599	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	4164255	68773599	66232917	93	30963											
FOLR3	2352	genome.wustl.edu	37	chr11	71850422	71850422	+	Missense_Mutation	SNP	T	T	G	0	1	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	ctggcgcaaagagcgcattcTgaacgtgcccctgtgcaaag	10	7	12	12	3	1	2	0	1	1	1	1	2	1	2	2	1	4	3	2	1	3	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:71850422T>G	ENST00000445078.2	+	4	580	c.509T>G	c.(508-510)cTg>cGg	p.L170R	FOLR3_ENST00000456237.1_Missense_Mutation_p.L172R|FOLR3_ENST00000442948.2_Missense_Mutation_p.L129R			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	128					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GAGCGCATTCTGAACGTGCCC	0.567																																																	0													23	23	23					11																	71850422		2198	4289	6487	SO:0001583	missense	0			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.509T>G	11.37:g.71850422T>G	ENSP00000390338:p.Leu170Arg		J3KQ90|Q05C14	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.L172R	ENST00000445078.2	37	c.515		11	.	.	.	.	.	.	.	.	.	.	N	16.53	3.148058	0.57151	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.77229	-1.08;-1.08;-1.08	3.21	2.02	0.26589	Folate receptor-like (1);	0.612298	0.13793	U	0.362396	T	0.66376	0.2783	.	.	.	0.44380	D	0.997281	P;B	0.34934	0.476;0.097	B;B	0.33254	0.1;0.16	T	0.58504	-0.7625	9	0.39692	T	0.17	.	8.4807	0.33040	0.0:0.0:0.3773:0.6227	.	172;128	E9PGT2;P41439	.;FOLR3_HUMAN	R	170;172;129	ENSP00000390338:L170R;ENSP00000399235:L172R;ENSP00000411161:L129R	ENSP00000411161:L129R	L	+	2	0	FOLR3	71528070	0.997000	0.39634	0.015000	0.15790	0.266000	0.26442	3.893000	0.56243	0.400000	0.25396	0.482000	0.46254	CTG	FOLR3	-	pfam_Folate_rcpt-like	ENSG00000110203		0.567	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	HGNC	protein_coding	OTTHUMT00000396739.1	-	0	64	0	T	NM_000804		71850422	1	tier1	-	no_errors	ENST00000456237	ensembl	human	known	74_37	missense	16.30	112	22	SNP	0.881	G	G	71850422	T	G	71850422	3	3	116	1	0	0	0	0	1	0	0	0	6005	1580	55	4	397	4	FOLR3	11	71850422	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	3076823	71850422	63156094	94	30964											
CNTN5	53942	genome.wustl.edu	37	chr11	100170076	100170076	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagttggcgtttataacaaTaaaggagatgggccttttag	14	12	11	4	1	0	1	0	0	0	1	0	2	0	1	1	3	1	2	1	3	7	7			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:100170076T>G	ENST00000524871.1	+	20	2858	c.2568T>G	c.(2566-2568)aaT>aaG	p.N856K	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.N782K|CNTN5_ENST00000279463.3_Missense_Mutation_p.N856K|CNTN5_ENST00000527185.1_Missense_Mutation_p.N856K|CNTN5_ENST00000528682.1_Missense_Mutation_p.N856K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	856	Fibronectin type-III 2. {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)		TTTATAACAATAAAGGAGATG	0.343																																																	0													96	93	94					11																	100170076		1837	4081	5918	SO:0001583	missense	0			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.2568T>G	11.37:g.100170076T>G	ENSP00000435637:p.Asn856Lys		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N856K	ENST00000524871.1	37	c.2568	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	T	16.10	3.025942	0.54683	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.62	0.618	0.17624	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60183	0.2249	L	0.50333	1.59	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.54622	-0.8266	10	0.40728	T	0.16	.	8.2658	0.31813	0.0:0.474:0.0:0.526	.	782;856	O94779-2;O94779	.;CNTN5_HUMAN	K	856;856;856;782;856	ENSP00000433575:N856K;ENSP00000436185:N856K;ENSP00000435637:N856K;ENSP00000393229:N782K;ENSP00000279463:N856K	ENSP00000279463:N856K	N	+	3	2	CNTN5	99675286	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	0.587000	0.23909	0.109000	0.17891	-0.256000	0.11100	AAT	CNTN5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149972		0.343	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0	25	0	T	NM_014361		100170076	1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	26.09	17	6	SNP	0.995	G	G	100170076	T	G	100170076	3	3	116	1	0	0	0	0	1	0	0	0	3651	1403	49	4	2638	4	CNTN5	11	100170076	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	28319654	100170076	34836440	95	30965											
CASP5	838	genome.wustl.edu	37	chr11	104879584	104879584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtactagggtctggataGatgtttgtccagccacgttg	8	13	13	7	1	1	1	0	0	1	1	2	2	2	2	2	3	2	3	2	3	4	6			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:104879584G>T	ENST00000260315.3	-	2	130	c.131C>A	c.(130-132)tCt>tAt	p.S44Y	CASP5_ENST00000393141.2_Missense_Mutation_p.S57Y|CASP5_ENST00000393139.2_Missense_Mutation_p.S11Y|CASP5_ENST00000526056.1_Missense_Mutation_p.S57Y|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	44					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GGTCTGGATAGATGTTTGTCC	0.363																																																	0													150	135	140					11																	104879584		2202	4299	6501	SO:0001583	missense	0				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.131C>A	11.37:g.104879584G>T	ENSP00000260315:p.Ser44Tyr		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.S57Y	ENST00000260315.3	37	c.170	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	.	4.140	0.024356	0.08054	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T;T	0.28454	4.56;1.61;4.59;4.56;2.72	1.15	-0.0252	0.13936	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	P;P	0.39782	0.561;0.688	B;B	0.23150	0.02;0.044	T	0.17992	-1.0351	9	0.87932	D	0	.	2.9172	0.05756	0.6522:0.0:0.3478:0.0	.	44;57	P51878;P51878-5	CASP5_HUMAN;.	Y	57;11;44;57;28	ENSP00000376849:S57Y;ENSP00000376847:S11Y;ENSP00000260315:S44Y;ENSP00000436877:S57Y;ENSP00000415241:S28Y	ENSP00000260315:S44Y	S	-	2	0	CASP5	104384794	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.836000	0.27545	-0.031000	0.13781	-0.312000	0.09012	TCT	CASP5	-	NULL	ENSG00000137757		0.363	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	-	0	110	0	G	NM_004347		104879584	-1	tier1	-	no_errors	ENST00000393141	ensembl	human	known	74_37	missense	17.39	76	16	SNP	0.001	T	T	104879584	G	T	104879584	3	4	116	1	0	0	0	0	1	0	0	0	2681	942	33	3	1205	3	CASP5	11	104879584	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	4709508	104879584	30126932	96	30966											
ZBTB16	7704	genome.wustl.edu	37	chr11	113935103	113935103	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ctggcctccacgtgcagcctGccctggctgtctccatggac	4	9	11	17	1	1	0	0	0	1	0	3	1	2	1	5	3	3	2	5	3	0	0			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:113935103G>A	ENST00000335953.4	+	2	1461	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	ZBTB16_ENST00000392996.2_Missense_Mutation_p.A361T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	361					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)	p.A361S(1)		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)		CGTGCAGCCTGCCCTGGCTGT	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											59	59	59					11																	113935103		2201	4296	6497	SO:0001583	missense	0			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.1081G>A	11.37:g.113935103G>A	ENSP00000338157:p.Ala361Thr		Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A361T	ENST00000335953.4	37	c.1081	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692386	0.30052	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.10382	2.88;2.88	5.2	1.23	0.21249	.	0.187590	0.46442	N	0.000288	T	0.05777	0.0151	N	0.14661	0.345	0.43808	D	0.99636	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.40059	-0.9583	10	0.28530	T	0.3	-2.3437	9.0797	0.36545	0.3499:0.0:0.6501:0.0	.	361;366	Q05516;Q59H43	ZBT16_HUMAN;.	T	361	ENSP00000338157:A361T;ENSP00000376721:A361T	ENSP00000338157:A361T	A	+	1	0	ZBTB16	113440313	0.993000	0.37304	0.301000	0.25044	0.982000	0.71751	1.881000	0.39638	0.072000	0.16694	0.563000	0.77884	GCC	ZBTB16	-	NULL	ENSG00000109906		0.617	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1		0	20	0	G	NM_006006		113935103	1			no_errors	ENST00000335953	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.763	A	A	113935103	G	A	113935103	3	1	116	1	0	0	0	0	1	0	0	0	17574	1319	46	3	1083	3	ZBTB16	11	113935103	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	9055519	113935103	21071413	97	30967											
DSCAML1	57453	genome.wustl.edu	37	chr11	117667753	117667753	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cccgcgcaggtctcacctttGtgtaaagagtccaggagcag	9	8	12	12	2	1	1	1	0	1	1	3	2	2	2	3	2	1	3	3	2	2	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:117667753G>T	ENST00000321322.6	-	1	223	c.222C>A	c.(220-222)caC>caA	p.H74Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.H14Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	14	Ig-like C2-type 1.				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)		TCTCACCTTTGTGTAAAGAGT	0.716																																																	0													26	25	25					11																	117667753		2196	4284	6480	SO:0001583	missense	0				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.222C>A	11.37:g.117667753G>T	ENSP00000315465:p.His74Gln		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.H74Q	ENST00000321322.6	37	c.222	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604369	0.46423	.	.	ENSG00000177103	ENST00000527706;ENST00000321322	T;T	0.60171	0.21;0.28	4.43	3.48	0.39840	.	.	.	.	.	T	0.31979	0.0814	N	0.08118	0	0.32982	D	0.523803	B	0.02656	0.0	B	0.01281	0.0	T	0.32903	-0.9889	9	0.15499	T	0.54	.	7.6409	0.28292	0.0:0.1813:0.6316:0.187	.	14	Q8TD84	DSCL1_HUMAN	Q	14;74	ENSP00000434335:H14Q;ENSP00000315465:H74Q	ENSP00000315465:H74Q	H	-	3	2	DSCAML1	117172963	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.089000	0.30890	0.916000	0.36871	0.448000	0.29417	CAC	DSCAML1	-	NULL	ENSG00000177103		0.716	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0	30	0	G	NM_020693		117667753	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T	T	117667753	G	T	117667753	3	4	116	1	0	0	0	0	1	0	0	0	4783	1368	48	3	6251	3	DSCAML1	11	117667753	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	3732650	117667753	17338763	98	30968											
CD163	9332	genome.wustl.edu	37	chr12	7639546	7639546	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgttgggcccaaagacGatgaattgcacgaggacagt	11	8	13	9	2	0	2	0	1	0	1	0	5	0	3	2	2	1	2	2	2	2	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:7639546G>T	ENST00000359156.4	-	9	2289	c.2087C>A	c.(2086-2088)tCg>tAg	p.S696*	CD163_ENST00000396620.3_Nonsense_Mutation_p.S729*|CD163_ENST00000432237.2_Nonsense_Mutation_p.S696*|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Nonsense_Mutation_p.S684*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	696					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)	p.S696L(1)		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)	GCCCAAAGACGATGAATTGCA	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											105	93	97					12																	7639546		2203	4300	6503	SO:0001587	stop_gained	0			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.2087C>A	12.37:g.7639546G>T	ENSP00000352071:p.Ser696*		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.S696*	ENST00000359156.4	37	c.2087	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.730417	0.97796	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	4.75	3.86	0.44501	.	1.081370	0.07128	N	0.845110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1983	0.37242	0.103:0.0:0.897:0.0	.	.	.	.	X	696;684;729;696	.	ENSP00000352071:S696X	S	-	2	0	CD163	7530813	0.005000	0.15991	0.006000	0.13384	0.438000	0.31896	0.706000	0.25690	1.307000	0.44944	0.650000	0.86243	TCG	CD163	-	NULL	ENSG00000177575		0.438	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2		0	38	0	G	NM_004244, NM_203416		7639546	-1			no_errors	ENST00000359156	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.033	T	T	7639546	G	T	7639546	4	4	116	1	0	0	0	0	0	1	0	0	2974	1059	37	2	1415	2	CD163	12	7639546	Nonsense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09		7639546	126212349	99	30969											
SLCO1C1	53919	genome.wustl.edu	37	chr12	20858911	20858911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagttataacatttgttagCtactttggagccaaacttca	12	16	6	7	0	1	0	1	0	0	0	1	1	1	1	1	1	5	3	1	1	6	8			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:20858911C>A	ENST00000266509.2	+	4	668	c.300C>A	c.(298-300)agC>agA	p.S100R	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S100R|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.S100R|SLCO1C1_ENST00000545102.1_5'UTR|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S100R	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	100					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)	CATTTGTTAGCTACTTTGGAG	0.373																																																	0													136	143	141					12																	20858911		2203	4299	6502	SO:0001583	missense	0			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.300C>A	12.37:g.20858911C>A	ENSP00000266509:p.Ser100Arg		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.S100R	ENST00000266509.2	37	c.300	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574928	0.65878	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.01	4.11	0.48088	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	H	0.95645	3.7	0.48185	D	0.999603	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.84531	0.0633	10	0.87932	D	0	.	10.0759	0.42360	0.0:0.8453:0.0:0.1547	.	100;100;100	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	R	100	ENSP00000444149:S100R;ENSP00000438665:S100R;ENSP00000266509:S100R;ENSP00000370964:S100R	ENSP00000266509:S100R	S	+	3	2	SLCO1C1	20750178	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.614000	0.24314	1.306000	0.44926	0.655000	0.94253	AGC	SLCO1C1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.373	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	-	0	52	0	C	NM_017435		20858911	1	tier1	-	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	26.92	38	14	SNP	1.000	A	A	20858911	C	A	20858911	3	1	116	1	0	0	0	0	1	0	0	0	14770	796	28	3	310	3	SLCO1C1	12	20858911	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	13219365	20858911	112992984	100	30970											
ARHGAP9	64333	genome.wustl.edu	37	chr12	57869326	57869326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccagctccgactcctcttCttcgtcctccccggcgctca	4	10	6	21	4	3	0	1	0	2	0	8	1	7	0	6	1	1	2	6	1	0	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:57869326C>T	ENST00000356411.2	-	11	1579	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.E541K|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.E552K|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.E462K|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.E278K|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.E462K|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	481	Lipid binding.				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)			GACTCCTCTTCTTCGTCCTCC	0.721																																																	0													10	13	12					12																	57869326		2192	4282	6474	SO:0001583	missense	0			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.1441G>A	12.37:g.57869326C>T	ENSP00000348782:p.Glu481Lys		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.E481K	ENST00000356411.2	37	c.1441		12	.	.	.	.	.	.	.	.	.	.	C	15.56	2.871114	0.51695	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139	T;T;T;T;T;T	0.51325	3.11;3.08;1.76;3.06;3.02;0.71	5.24	4.35	0.52113	.	0.680119	0.14679	N	0.304866	T	0.58148	0.2102	L	0.47716	1.5	0.35880	D	0.828879	D;D;D;P;B	0.71674	0.997;0.997;0.998;0.932;0.057	D;D;D;B;B	0.78314	0.98;0.98;0.991;0.293;0.082	T	0.59467	-0.7449	10	0.27785	T	0.31	.	9.9788	0.41800	0.0:0.9061:0.0:0.0939	.	541;481;462;462;278	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	K	462;481;132;462;552;511;278;278	ENSP00000377380:E462K;ENSP00000348782:E481K;ENSP00000394307:E462K;ENSP00000377386:E552K;ENSP00000397950:E278K;ENSP00000449829:E278K	ENSP00000344852:E511K	E	-	1	0	ARHGAP9	56155593	0.753000	0.28349	0.697000	0.30258	0.557000	0.35523	2.277000	0.43417	1.373000	0.46208	0.455000	0.32223	GAA	ARHGAP9	-	NULL	ENSG00000123329		0.721	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding			0	38	0	C	NM_032496		57869326	-1			no_errors	ENST00000356411	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.888	T	T	57869326	C	T	57869326	3	4	116	1	0	0	0	0	1	0	0	0	889	922	32	3	843	3	ARHGAP9	12	57869326	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	37010415	57869326	75982569	101	30971											
TMTC2	160335	genome.wustl.edu	37	chr12	83289683	83289683	+	Silent	SNP	A	A	G	1	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	gcccggttatactggatgggAaacaaaccaccaagcttttc	12	9	9	11	1	0	0	0	0	0	0	1	2	0	2	3	3	4	2	3	3	5	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:83289683A>G	ENST00000321196.3	+	3	1448	c.741A>G	c.(739-741)ggA>ggG	p.G247G	TMTC2_ENST00000548305.1_Silent_p.G247G|TMTC2_ENST00000549919.1_Silent_p.G241G	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	247					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						ACTGGATGGGAAACAAACCAC	0.488																																																	0													142	145	144					12																	83289683		2203	4300	6503	SO:0001819	synonymous_variant	0			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.741A>G	12.37:g.83289683A>G			B2RCU7|Q8N2K8	Silent	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G247	ENST00000321196.3	37	c.741	CCDS9025.1	12																																																																																			TMTC2	-	pfam_DUF1736	ENSG00000179104		0.488	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	HGNC	protein_coding	OTTHUMT00000405663.1	-	0	18	0	A	NM_152588		83289683	1	tier1	-	no_errors	ENST00000321196	ensembl	human	known	74_37	silent	35.14	24	13	SNP	0.993	G	G	83289683	A	G	83289683	2	3	116	1	0	0	0	0	0	0	0	1	16308	233	9	4		4	TMTC2	12	83289683	Silent	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	25420357	83289683	50562212	102	30972											
AMDHD1	144193	genome.wustl.edu	37	chr12	96350709	96350709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctggacatcggcatctcgGctacctactgcggggctcat	7	9	12	13	3	2	0	1	0	1	0	4	1	2	1	1	5	4	4	1	5	2	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:96350709G>A	ENST00000266736.2	+	4	662	c.556G>A	c.(556-558)Gct>Act	p.A186T		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	186					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						CGGCATCTCGGCTACCTACTG	0.617																																																	0													83	93	89					12																	96350709		2203	4300	6503	SO:0001583	missense	0			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.556G>A	12.37:g.96350709G>A	ENSP00000266736:p.Ala186Thr		A8K463|Q68CI8	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	p.A186T	ENST00000266736.2	37	c.556	CCDS9057.1	12	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447121	0.43429	.	.	ENSG00000139344	ENST00000266736	T	0.47177	0.85	5.57	3.59	0.41128	Metal-dependent hydrolase, composite domain (1);	0.156319	0.64402	D	0.000016	T	0.25644	0.0624	N	0.16743	0.435	0.45139	D	0.998157	B	0.02656	0.0	B	0.12156	0.007	T	0.05903	-1.0857	10	0.11794	T	0.64	-15.2293	6.7983	0.23736	0.0924:0.0:0.5379:0.3697	.	186	Q96NU7	HUTI_HUMAN	T	186	ENSP00000266736:A186T	ENSP00000266736:A186T	A	+	1	0	AMDHD1	94874840	1.000000	0.71417	0.980000	0.43619	0.390000	0.30446	3.667000	0.54547	1.367000	0.46095	-0.424000	0.05967	GCT	AMDHD1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	ENSG00000139344		0.617	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMDHD1	HGNC	protein_coding	OTTHUMT00000408640.1		0	25	0	G	NM_152435		96350709	1			no_errors	ENST00000266736	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.985	A	A	96350709	G	A	96350709	3	1	116	1	0	0	0	0	1	0	0	0	567	1203	42	3	570	3	AMDHD1	12	96350709	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	13061026	96350709	37501186	103	30973											
COQ5	84274	genome.wustl.edu	37	chr12	120960101	120960101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccttccaaacacgatggaTaccaagactcatcatatcat	15	10	4	12	1	3	1	3	0	0	1	5	3	5	2	3	1	2	0	3	1	4	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:120960101T>C	ENST00000288532.6	-	2	308	c.268A>G	c.(268-270)Atc>Gtc	p.I90V	COQ5_ENST00000445328.2_Missense_Mutation_p.I90V	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	90					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACGATGGATACCAAGACTC	0.458																																																	0													238	192	208					12																	120960101		2203	4300	6503	SO:0001583	missense	0			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.268A>G	12.37:g.120960101T>C	ENSP00000288532:p.Ile90Val		B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase	p.I90V	ENST00000288532.6	37	c.268	CCDS31912.1	12	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889140	0.52014	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000552443;ENST00000551769;ENST00000547736	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.91	5.91	0.95273	UbiE/COQ5 methyltransferase, conserved site (1);	0.048285	0.85682	D	0.000000	T	0.59390	0.2190	L	0.49126	1.545	0.24081	N	0.995943	B;B	0.31519	0.226;0.327	B;B	0.40329	0.326;0.252	T	0.55617	-0.8113	10	0.33940	T	0.23	.	8.4189	0.32687	0.0:0.1459:0.0:0.8541	.	90;90	B4DP72;Q5HYK3	.;COQ5_HUMAN	V	90;90;90;9;9;64	ENSP00000288532:I90V;ENSP00000401798:I90V;ENSP00000449863:I9V;ENSP00000450001:I9V;ENSP00000449933:I64V	ENSP00000288532:I90V	I	-	1	0	COQ5	119444484	0.968000	0.33430	0.982000	0.44146	0.995000	0.86356	1.721000	0.38032	2.263000	0.75096	0.379000	0.24179	ATC	COQ5	-	pfam_UbiE/COQ5_MeTrFase	ENSG00000110871		0.458	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ5	HGNC	protein_coding	OTTHUMT00000403767.2	-	0	28	0	T	NM_032314		120960101	-1	tier1	-	no_errors	ENST00000288532	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.993	C	C	120960101	T	C	120960101	3	2	116	1	0	0	0	0	1	0	0	0	3755	1406	49	4	739	4	COQ5	12	120960101	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	24609392	120960101	12891794	104	30974											
PXMP2	5827	genome.wustl.edu	37	chr12	133277913	133277913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatgaactggcgggtgtgGacgccactacagttcatcaa	11	8	13	9	2	2	1	2	1	0	0	2	3	2	3	1	4	2	1	1	4	3	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:133277913G>T	ENST00000317479.3	+	4	542	c.477G>T	c.(475-477)tgG>tgT	p.W159C	PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000545677.1_Missense_Mutation_p.D31Y|PXMP2_ENST00000428960.2_Missense_Mutation_p.W66C|PXMP2_ENST00000539093.1_Missense_Mutation_p.D31Y|RP13-672B3.2_ENST00000537262.1_Missense_Mutation_p.D31Y	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	159						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GGCGGGTGTGGACGCCACTAC	0.592																																																	0													55	55	55					12																	133277913		2203	4300	6503	SO:0001583	missense	0				CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"peroxisomal membrane protein 2 (22kD)"			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.477G>T	12.37:g.133277913G>T	ENSP00000321271:p.Trp159Cys			Missense_Mutation	SNP	pfam_Mpv17_PMP22	p.W159C	ENST00000317479.3	37	c.477	CCDS9279.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.48|11.48	1.651108|1.651108	0.29336|0.29336	.|.	.|.	ENSG00000176894;ENSG00000176894;ENSG00000256632|ENSG00000176894	ENST00000545677;ENST00000539093;ENST00000537262|ENST00000317479;ENST00000428960	.|D;D	.|0.94650	.|-3.48;-3.48	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98298|0.98298	0.9436|0.9436	H|H	0.97291|0.97291	3.975|3.975	0.40291|0.40291	D|D	0.978506|0.978506	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	D|D	0.99897|0.99897	1.1149|1.1149	6|10	0.87932|0.87932	D|D	0|0	.|.	16.681|16.681	0.85291|0.85291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|159	.|Q9NR77	.|PXMP2_HUMAN	Y|C	31|159;66	.|ENSP00000321271:W159C;ENSP00000398708:W66C	ENSP00000444486:D31Y|ENSP00000321271:W159C	D|W	+|+	1|3	0|0	RP13-672B3.2;PXMP2|PXMP2	131787986|131787986	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.216000|0.216000	0.24613|0.24613	7.991000|7.991000	0.88244|0.88244	2.613000|2.613000	0.88420|0.88420	0.603000|0.603000	0.83216|0.83216	GAC|TGG	PXMP2	-	pfam_Mpv17_PMP22	ENSG00000176894		0.592	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXMP2	HGNC	protein_coding	OTTHUMT00000397553.1	-	0	51	0	G	NM_018663		133277913	1	tier1	-	no_errors	ENST00000317479	ensembl	human	known	74_37	missense	21.54	51	14	SNP	1.000	T	T	133277913	G	T	133277913	3	4	116	1	0	0	0	0	1	0	0	0	12895	1183	41	3	491	3	PXMP2	12	133277913	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	12317812	133277913	573982	105	30975											
ALG5	29880	genome.wustl.edu	37	chr13	37563687	37563687	+	Nonsense_Mutation	SNP	A	A	T	1	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	acacgtactttgtcacttccAtatttctggcaatatttaaa	12	16	4	9	1	2	0	1	0	1	0	3	0	3	0	1	1	1	2	1	1	6	8			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr13:37563687A>T	ENST00000239891.3	-	5	447	c.381T>A	c.(379-381)taT>taA	p.Y127*	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Nonsense_Mutation_p.Y127*|ALG5_ENST00000443765.1_Nonsense_Mutation_p.Y97*	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	127					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|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)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TGTCACTTCCATATTTCTGGC	0.284																																																	0													92	87	89					13																	37563687		2202	4299	6501	SO:0001587	stop_gained	0			AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"Glycosyltransferase family 2 domain containing"	20266	protein-coding gene	gene with protein product		604565	"asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)", "asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.381T>A	13.37:g.37563687A>T	ENSP00000239891:p.Tyr127*		B4DR37|Q5TBA6	Nonsense_Mutation	SNP	pfam_Glyco_trans_2	p.Y127*	ENST00000239891.3	37	c.381	CCDS9361.1	13	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498600	0.64298	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	.	.	.	5.91	-6.72	0.01755	.	0.053616	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.5098	19.1137	0.93330	0.3126:0.0:0.6874:0.0	.	.	.	.	X	97;127;127	.	ENSP00000239891:Y127X	Y	-	3	2	ALG5	36461687	0.002000	0.14202	0.783000	0.31826	0.845000	0.48019	-1.319000	0.02702	-1.352000	0.02194	-1.080000	0.02220	TAT	ALG5	-	pfam_Glyco_trans_2	ENSG00000120697		0.284	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG5	HGNC	protein_coding	OTTHUMT00000044528.2		0	30	0	A	NM_013338		37563687	-1			no_errors	ENST00000239891	ensembl	human	known	74_37	nonsense	7.69	24	2	SNP	0.747	T	T	37563687	A	T	37563687	4	4	116	1	0	0	0	0	0	1	0	0	521	224	8	5	617	5	ALG5	13	37563687	Nonsense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09		37563687	77606191	106	30976											
CARKD	55739	genome.wustl.edu	37	chr13	111268083	111268083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcgttgtcgcattgctctCggccgcactcgcgctgtacg	3	11	13	14	7	1	0	0	0	1	0	5	0	1	0	1	2	2	6	1	2	1	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr13:111268083C>T	ENST00000309957.2	+	1	76	c.62C>T	c.(61-63)tCg>tTg	p.S21L	CARKD_ENST00000458711.2_Intron|CARKD_ENST00000424185.2_Intron|CARKD_ENST00000397191.4_Intron|CARKD_ENST00000470164.2_Intron	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						GCATTGCTCTCGGCCGCACTC	0.721																																																	0													8	9	9					13																	111268083		2093	4136	6229	SO:0001583	missense	0			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.62C>T	13.37:g.111268083C>T	ENSP00000311984:p.Ser21Leu			Missense_Mutation	SNP	pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel	p.S21L	ENST00000309957.2	37	c.62	CCDS9513.1	13	.	.	.	.	.	.	.	.	.	.	C	7.634	0.679447	0.14907	.	.	ENSG00000213995	ENST00000309957	T	0.23950	1.88	3.52	1.39	0.22231	.	1.112850	0.06807	N	0.789769	T	0.15565	0.0375	N	0.22421	0.69	0.09310	N	0.999995	B;B	0.17465	0.022;0.006	B;B	0.08055	0.003;0.001	T	0.31779	-0.9931	10	0.49607	T	0.09	-3.1191	1.9531	0.03370	0.1778:0.338:0.3503:0.1339	.	21;21	Q8IW45-2;Q8IW45	.;CARKD_HUMAN	L	21	ENSP00000311984:S21L	ENSP00000311984:S21L	S	+	2	0	CARKD	110066084	0.013000	0.17824	0.007000	0.13788	0.033000	0.12548	1.016000	0.29976	0.146000	0.19002	0.561000	0.74099	TCG	CARKD	-	NULL	ENSG00000213995		0.721	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARKD	HGNC	protein_coding	OTTHUMT00000045764.1	-	0	29	0	C	NM_018210		111268083	1	tier1	-	no_errors	ENST00000309957	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.001	T	T	111268083	C	T	111268083	3	4	116	1	0	0	0	0	1	0	0	0	2661	893	31	1	64	1	CARKD	13	111268083	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	73704396	111268083	3901795	107	30977											
RALGAPA1	253959	genome.wustl.edu	37	chr14	36211602	36211603	+	Frame_Shift_Ins	INS	-	-	A																															tttttctccttcttccattgINSaaatatcatggtctgtgaca																										TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr14:36211602_36211603insA	ENST00000389698.3	-	11	1810_1811	c.1420_1421insT	c.(1420-1422)tcafs	p.S474fs	RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.S474fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Ins_p.S474fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.S474fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	474					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						TTCTTCCATTGAAATATCATGG	0.337																																																	0																																										SO:0001589	frameshift_variant	0			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.1421dupT	14.37:g.36211605_36211605dupA	ENSP00000374348:p.Ser474fs		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Ins	INS	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.S474fs	ENST00000389698.3	37	c.1421_1420	CCDS32065.1	14																																																																																			RALGAPA1	-	NULL	ENSG00000174373		0.337	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1		0	21	0	-	XM_210022		36211603	-1	tier1		no_errors	ENST00000258840	ensembl	human	known	74_37	frame_shift_ins	19.23	21	5	INS	0.091:0.077	A	A	36211603	-	A	36211602	7	5	116	1	0	1	1	0	0	0	0	0	13058	1294	45	0	4962	0	RALGAPA1	14	36211602	Frame_Shift_Ins	INS	-	TCGA-LN-A4A6-01A-11D-A27G-09		36211602	71137938	108	30978											
MAP4K5	11183	genome.wustl.edu	37	chr14	50930823	50930823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggtttttggttagtgctaTtttgacaaaattatggaatg	10	18	11	2	0	0	1	0	1	0	0	0	2	0	2	0	3	1	3	0	3	6	7			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr14:50930823T>C	ENST00000013125.4	-	12	1084	c.766A>G	c.(766-768)Ata>Gta	p.I256V		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					GTTAGTGCTATTTTGACAAAA	0.308																																																	0													132	110	116					14																	50930823		1774	4010	5784	SO:0001583	missense	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.766A>G	14.37:g.50930823T>C	ENSP00000013125:p.Ile256Val		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.I256V	ENST00000013125.4	37	c.766		14	.	.	.	.	.	.	.	.	.	.	T	2.463	-0.323763	0.05350	.	.	ENSG00000012983	ENST00000013125	T	0.64618	-0.11	5.42	4.27	0.50696	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.111889	0.64402	D	0.000003	T	0.31827	0.0809	N	0.04746	-0.17	0.34536	D	0.709758	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.34875	-0.9811	10	0.02654	T	1	.	6.9413	0.24494	0.0:0.2462:0.0:0.7538	.	256;256	B2R928;Q9Y4K4	.;M4K5_HUMAN	V	256	ENSP00000013125:I256V	ENSP00000013125:I256V	I	-	1	0	MAP4K5	50000573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.276000	0.33156	1.002000	0.39104	0.533000	0.62120	ATA	MAP4K5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000012983		0.308	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	-	0	33	0	T	NM_006575		50930823	-1	tier1	-	no_errors	ENST00000013125	ensembl	human	known	74_37	missense	32.00	34	16	SNP	1.000	C	C	50930823	T	C	50930823	3	2	116	1	0	0	0	0	1	0	0	0	9301	1493	52	4	1858	4	MAP4K5	14	50930823	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	14719221	50930823	56418717	109	30979											
DAAM1	23002	genome.wustl.edu	37	chr14	59789936	59789936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgccagcgaaaggacccGctttcaggtgggtgttcgct	7	10	14	10	3	1	0	1	0	0	0	2	2	1	1	2	3	2	4	2	3	2	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr14:59789936G>A	ENST00000395125.1	+	5	790	c.767G>A	c.(766-768)cGc>cAc	p.R256H	DAAM1_ENST00000360909.3_Missense_Mutation_p.R256H|DAAM1_ENST00000351081.1_Missense_Mutation_p.R256H	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	256	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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)		GAAAGGACCCGCTTTCAGGTG	0.547																																																	0													18	18	18					14																	59789936		2203	4300	6503	SO:0001583	missense	0			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.767G>A	14.37:g.59789936G>A	ENSP00000378557:p.Arg256His		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.R256H	ENST00000395125.1	37	c.767	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669915	0.88348	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.89875	-2.58;-2.58;-2.58	6.02	6.02	0.97574	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.095632	0.64402	D	0.000001	D	0.96300	0.8793	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.96322	0.9237	10	0.66056	D	0.02	.	20.1323	0.98003	0.0:0.0:1.0:0.0	.	256;256	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	H	256	ENSP00000354162:R256H;ENSP00000247170:R256H;ENSP00000378557:R256H	ENSP00000247170:R256H	R	+	2	0	DAAM1	58859689	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	CGC	DAAM1	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000100592		0.547	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2		0	22	0	G	NM_014992		59789936	1			no_errors	ENST00000351081	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	A	A	59789936	G	A	59789936	3	1	116	1	0	0	0	0	1	0	0	0	4224	1087	38	1	785	1	DAAM1	14	59789936	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	8859113	59789936	47559604	110	30980											
ZNF410	57862	genome.wustl.edu	37	chr14	74371780	74371780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaccaccggcgcatcCacacaggtgtgtgcagcacc	11	5	11	14	2	0	2	0	1	0	1	1	2	1	2	4	2	3	3	4	2	2	0			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr14:74371780C>T	ENST00000555044.1	+	7	1101	c.907C>T	c.(907-909)Cac>Tac	p.H303Y	ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.H250Y|RP5-1021I20.6_ENST00000602874.1_RNA|ZNF410_ENST00000442160.3_Missense_Mutation_p.H320Y|ZNF410_ENST00000324593.6_Missense_Mutation_p.H303Y|RP5-1021I20.5_ENST00000554009.1_RNA|Y_RNA_ENST00000362602.1_RNA|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000540593.1_Missense_Mutation_p.H230Y	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	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(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CCGGCGCATCCACACAGGTGT	0.507																																																	0													87	77	81					14																	74371780		2203	4300	6503	SO:0001583	missense	0			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.907C>T	14.37:g.74371780C>T	ENSP00000451763:p.His303Tyr		B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H303Y	ENST00000555044.1	37	c.907	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012343	0.54468	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000554316	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.52	4.61	0.57282	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000336	D	0.86406	0.5925	H	0.95114	3.625	0.80722	D	1	B;D;D;B;B;B	0.69078	0.071;0.997;0.976;0.008;0.4;0.01	B;D;D;B;B;B	0.80764	0.064;0.994;0.979;0.009;0.113;0.015	D	0.89690	0.3897	10	0.87932	D	0	.	14.941	0.70994	0.0:0.9304:0.0:0.0696	.	303;230;320;303;292;303	B2RCP6;B4DR78;B4DDV5;Q86VK4-3;B4DPE9;Q86VK4	.;.;.;.;.;ZN410_HUMAN	Y	230;303;292;320;303;250;34	ENSP00000442228:H230Y;ENSP00000323293:H303Y;ENSP00000407130:H320Y;ENSP00000451763:H303Y;ENSP00000334170:H250Y;ENSP00000451748:H34Y	ENSP00000323293:H303Y	H	+	1	0	ZNF410	73441533	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	5.618000	0.67722	2.873000	0.98535	0.563000	0.77884	CAC	ZNF410	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000119725		0.507	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	-	0	34	0	C	NM_021188		74371780	1	tier1	-	no_errors	ENST00000555044	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	T	T	74371780	C	T	74371780	3	4	116	1	0	0	0	0	1	0	0	0	17938	594	21	3	929	3	ZNF410	14	74371780	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	14581844	74371780	32977760	111	30981											
RTL1	388015	genome.wustl.edu	37	chr14	101348319	101348319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcggtgttctccaggtagCggcaccacaccatgaaggca	9	7	11	14	2	1	1	0	1	1	0	3	1	1	1	4	4	1	4	4	4	2	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr14:101348319C>T	ENST00000534062.1	-	1	2865	c.2807G>A	c.(2806-2808)cGc>cAc	p.R936H	MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR431_ENST00000385266.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	936					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.R936H(2)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTCCAGGTAGCGGCACCACAC	0.532																																																	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											61	60	60					14																	101348319		1568	3582	5150	SO:0001583	missense	0				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.2807G>A	14.37:g.101348319C>T	ENSP00000435342:p.Arg936His		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.R936H	ENST00000534062.1	37	c.2807	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125088	0.37533	.	.	ENSG00000254656	ENST00000534062	T	0.39406	1.08	3.39	3.39	0.38822	.	0.233121	0.22485	N	0.059444	T	0.15522	0.0374	N	0.17082	0.46	0.29017	N	0.886531	P	0.39181	0.663	B	0.26310	0.068	T	0.22243	-1.0222	10	0.02654	T	1	.	6.746	0.23462	0.0:0.8747:0.0:0.1253	.	936	E9PKS8	.	H	936	ENSP00000435342:R936H	ENSP00000435342:R936H	R	-	2	0	RTL1	100418072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.300000	0.51834	2.210000	0.71456	0.555000	0.69702	CGC	RTL1	-	NULL	ENSG00000254656		0.532	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1		0	39	0	C	NM_001134888		101348319	-1			no_errors	ENST00000534062	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T	T	101348319	C	T	101348319	3	4	116	1	0	0	0	0	1	0	0	0	13769	768	27	1	1273	1	RTL1	14	101348319	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	26976539	101348319	6001221	112	30982											
TRPM7	54822	genome.wustl.edu	37	chr15	50867083	50867083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagaactgtatcttctttgTaaatacttgaccatgtatta	12	16	6	7	0	2	2	0	1	2	1	2	2	2	2	1	0	2	4	1	0	7	8			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr15:50867083T>C	ENST00000313478.7	-	34	5266	c.4985A>G	c.(4984-4986)tAc>tGc	p.Y1662C	TRPM7_ENST00000560955.1_Missense_Mutation_p.Y1661C|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1662	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)		ATCTTCTTTGTAAATACTTGA	0.323																																																	0													81	78	79					15																	50867083		1805	4075	5880	SO:0001583	missense	0			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.4985A>G	15.37:g.50867083T>C	ENSP00000320239:p.Tyr1662Cys		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.Y1662C	ENST00000313478.7	37	c.4985	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011131	0.75046	.	.	ENSG00000092439	ENST00000313478	T	0.08008	3.14	5.39	5.39	0.77823	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.123452	0.56097	D	0.000023	T	0.26268	0.0641	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00463	-1.1724	10	0.87932	D	0	-19.725	15.5781	0.76408	0.0:0.0:0.0:1.0	.	1662	Q96QT4	TRPM7_HUMAN	C	1662	ENSP00000320239:Y1662C	ENSP00000320239:Y1662C	Y	-	2	0	TRPM7	48654375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.674000	0.83992	2.260000	0.74910	0.528000	0.53228	TAC	TRPM7	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000092439		0.323	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	-	0	26	0	T	NM_017672		50867083	-1	tier1	-	no_errors	ENST00000313478	ensembl	human	known	74_37	missense	47.22	19	17	SNP	1.000	C	C	50867083	T	C	50867083	3	2	116	1	0	0	0	0	1	0	0	0	16639	1638	57	4	636	4	TRPM7	15	50867083	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09		50867083	51664309	113	30983											
CGNL1	84952	genome.wustl.edu	37	chr15	57730212	57730212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaccatggagctgtatttCggtgaatatcaacatgtgca	12	12	10	7	1	1	2	1	2	0	0	2	3	1	3	1	2	4	3	1	2	5	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr15:57730212C>T	ENST00000281282.5	+	2	93	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	5	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)		AGCTGTATTTCGGTGAATATC	0.438																																																	0													239	252	247					15																	57730212		2192	4292	6484	SO:0001819	synonymous_variant	0			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.15C>T	15.37:g.57730212C>T			Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.F5	ENST00000281282.5	37	c.15	CCDS10161.1	15																																																																																			CGNL1	-	NULL	ENSG00000128849		0.438	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	-	0	55	0	C	NM_032866		57730212	1	tier1	-	no_errors	ENST00000281282	ensembl	human	known	74_37	silent	15.38	33	6	SNP	0.945	T	T	57730212	C	T	57730212	2	4	116	1	0	0	0	0	0	0	0	1	3311	883	31	1		1	CGNL1	15	57730212	Silent	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	6863129	57730212	44801180	114	30984											
GCOM1	100820829	genome.wustl.edu	37	chr15	57921909	57921909	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctcacagaaaaccctcGtggatgtgactttggaaaac	13	9	8	11	1	1	2	1	1	0	1	3	4	2	4	2	2	2	0	2	2	4	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr15:57921909G>C	ENST00000267853.5	+	6	629	c.535G>C	c.(535-537)Gtg>Ctg	p.V179L	GCOM1_ENST00000380561.2_Missense_Mutation_p.V148L|GCOM1_ENST00000572390.1_Missense_Mutation_p.V179L|GCOM1_ENST00000380560.2_Missense_Mutation_p.V110L|GCOM1_ENST00000587652.1_Missense_Mutation_p.V179L|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.V179L|GCOM1_ENST00000396180.1_Missense_Mutation_p.V148L|GCOM1_ENST00000574161.1_Missense_Mutation_p.V179L|MYZAP_ENST00000380565.4_Missense_Mutation_p.V179L|GCOM1_ENST00000380568.3_Missense_Mutation_p.V179L			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	179					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											GAAAACCCTCGTGGATGTGAC	0.458																																																	0													82	77	78					15																	57921909		2192	4292	6484	SO:0001583	missense	0			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"myocardium-enriched zonula adherens protein"	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.535G>C	15.37:g.57921909G>C	ENSP00000267853:p.Val179Leu		D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	NULL	p.V179L	ENST00000267853.5	37	c.535	CCDS10162.1	15	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892391	0.33442	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.43	5.43	0.79202	.	0.065610	0.64402	D	0.000008	T	0.47322	0.1439	L	0.41710	1.295	0.80722	D	1	D;D;D;P	0.76494	0.999;0.999;0.999;0.613	D;D;D;P	0.87578	0.998;0.998;0.998;0.506	T	0.17899	-1.0354	10	0.27082	T	0.32	-24.9226	18.0346	0.89296	0.0:0.0:1.0:0.0	.	179;179;179;179	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	L	179;148;148;110;179;179;179	ENSP00000369943:V179L;ENSP00000369935:V148L;ENSP00000379483:V148L;ENSP00000369933:V110L;ENSP00000267853:V179L;ENSP00000369939:V179L;ENSP00000369942:V179L	ENSP00000267853:V179L	V	+	1	0	GCOM1	55709201	1.000000	0.71417	0.991000	0.47740	0.032000	0.12392	3.730000	0.55006	2.540000	0.85666	0.650000	0.86243	GTG	GCOM1	-	NULL	ENSG00000137878		0.458	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCOM1	HGNC	protein_coding	OTTHUMT00000255716.2		0	36	0	G	NM_001018100		57921909	1			no_errors	ENST00000380569	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.981	C	C	57921909	G	C	57921909	3	2	116	1	0	0	0	0	1	0	0	0	6329	1145	40	5	557	5	GCOM1	15	57921909	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	191697	57921909	44609483	115	30985											
TRIP4	9325	genome.wustl.edu	37	chr15	64701892	64701892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggttgtccaaacttgagcGggaaaccttgcagaagcgag	12	8	13	8	2	0	2	0	1	0	1	1	4	1	3	2	2	5	2	2	2	3	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr15:64701892G>A	ENST00000261884.3	+	7	968	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	303					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						AAACTTGAGCGGGAAACCTTG	0.463																																																	0													117	112	114					15																	64701892		2203	4300	6503	SO:0001583	missense	0			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.908G>A	15.37:g.64701892G>A	ENSP00000261884:p.Arg303Gln		B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain	p.R303Q	ENST00000261884.3	37	c.908	CCDS10194.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.858355	0.97036	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86459	0.1778	9	0.87932	D	0	-15.5417	19.7347	0.96198	0.0:0.0:1.0:0.0	.	303	Q15650	TRIP4_HUMAN	Q	303	.	ENSP00000261884:R303Q	R	+	2	0	TRIP4	62488945	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.386000	0.97228	2.675000	0.91044	0.555000	0.69702	CGG	TRIP4	-	NULL	ENSG00000103671		0.463	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP4	HGNC	protein_coding	OTTHUMT00000256635.2		0	38	0	G	NM_016213		64701892	1			no_errors	ENST00000261884	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	64701892	G	A	64701892	3	1	116	1	0	0	0	0	1	0	0	0	16606	1116	39	1	934	1	TRIP4	15	64701892	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	6779983	64701892	37829500	116	30986											
ACAN	176	genome.wustl.edu	37	chr15	89400477	89400477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttccttctggaggagaagGtctagagacctctgcttctg	8	12	11	10	0	4	2	0	0	4	2	5	5	5	3	2	3	1	1	2	3	2	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr15:89400477G>T	ENST00000561243.1	+	11	4661	c.4661G>T	c.(4660-4662)gGt>gTt	p.G1554V	ACAN_ENST00000559004.1_Missense_Mutation_p.G1554V|ACAN_ENST00000439576.2_Missense_Mutation_p.G1554V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1554V			P16112	PGCA_HUMAN	aggrecan	1586	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)			GGAGGAGAAGGTCTAGAGACC	0.537																																																	0													45	47	46					15																	89400477		1848	4091	5939	SO:0001583	missense	0			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.4661G>T	15.37:g.89400477G>T	ENSP00000453342:p.Gly1554Val		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.G1554V	ENST00000561243.1	37	c.4661	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	7.670	0.686775	0.14973	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.94931	-3.56;-3.56	4.46	-2.21	0.06973	.	1.533070	0.04605	N	0.399278	D	0.90150	0.6922	L	0.60455	1.87	0.09310	N	0.999996	P;B	0.37824	0.609;0.264	B;B	0.36335	0.222;0.17	T	0.79077	-0.1951	10	0.27785	T	0.31	0.5943	1.1388	0.01761	0.2333:0.1221:0.3942:0.2504	.	1554;1554	E7ENV9;E7EX88	.;.	V	1554;1554;1440	ENSP00000387356:G1554V;ENSP00000341615:G1554V	ENSP00000268134:G1440V	G	+	2	0	ACAN	87201481	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.315000	0.08081	-0.397000	0.07691	0.655000	0.94253	GGT	ACAN	-	NULL	ENSG00000157766		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2		0	56	0	G	NM_001135		89400477	1			no_errors	ENST00000439576	ensembl	human	known	74_37	missense	15.38	55	10	SNP	0.000	T	T	89400477	G	T	89400477	3	4	116	1	0	0	0	0	1	0	0	0	117	1261	44	3	4703	3	ACAN	15	89400477	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	24698585	89400477	13130915	117	30987											
SEPX1	6123	genome.wustl.edu	37	chr16	1993105	1993105	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggccgcaggaccaaccaGgttcaaagtgattctggaaa	14	6	12	9	1	2	2	1	1	1	1	2	4	2	4	3	4	1	2	3	4	3	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:1993105G>T	ENST00000268661.7	-	0	2182				MSRB1_ENST00000361871.3_Missense_Mutation_p.P18H|MSRB1_ENST00000564908.1_Missense_Mutation_p.P18H|MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000399753.2_Missense_Mutation_p.P18H	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						GGACCAACCAGGTTCAAAGTG	0.682																																																	0													11	14	13					16																	1993105		1869	4045	5914	SO:0001628	intergenic_variant	0			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.1993105G>T				Missense_Mutation	SNP	pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like	p.P18H	ENST00000268661.7	37	c.53	CCDS10450.1	16	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300627	0.60195	.	.	ENSG00000198736	ENST00000361871;ENST00000399753	T;T	0.76316	-1.01;-1.01	3.9	3.9	0.45041	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.135359	0.50627	D	0.000109	D	0.82765	0.5108	L	0.59967	1.855	0.47547	D	0.999453	P	0.48911	0.917	P	0.56823	0.807	D	0.84593	0.0668	10	0.56958	D	0.05	1.2715	14.617	0.68556	0.0:0.0:1.0:0.0	.	18	Q9NZV6	MSRB1_HUMAN	H	18	ENSP00000355084:P18H;ENSP00000382657:P18H	ENSP00000355084:P18H	P	-	2	0	SEPX1	1933106	1.000000	0.71417	0.416000	0.26546	0.054000	0.15201	6.284000	0.72652	2.007000	0.58848	0.297000	0.19635	CCT	MSRB1	-	pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like	ENSG00000198736		0.682	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSRB1	HGNC	protein_coding	OTTHUMT00000250582.2		0	27	0	G	NM_005061		1993105	-1			no_errors	ENST00000399753	ensembl	human	putative	74_37	missense	12.00	22	3	SNP	0.999	T	T	1993105	G	T	1993105	1	4	116	0	1	0	0	0	0	0	0	0	14118	1000	35	3		3	SEPX1	16	1993105	IGR	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09		1993105	88361648	118	30988											
CP110	9738	genome.wustl.edu	37	chr16	19554028	19554028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatcaactagtggcttGaccaaactctcagtaacaag	14	9	8	10	0	3	1	3	1	1	0	4	2	3	2	1	2	3	2	1	2	5	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:19554028G>T	ENST00000381396.5	+	7	2560	c.2313G>T	c.(2311-2313)ttG>ttT	p.L771F	CCP110_ENST00000396208.2_Missense_Mutation_p.L771F|CCP110_ENST00000396212.2_Missense_Mutation_p.L771F	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	771					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						CTAGTGGCTTGACCAAACTCT	0.393																																																	0													88	83	85					16																	19554028		2197	4300	6497	SO:0001583	missense	0			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.2313G>T	16.37:g.19554028G>T	ENSP00000370803:p.Leu771Phe		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	NULL	p.L771F	ENST00000381396.5	37	c.2313	CCDS55992.1	16	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629630	0.46944	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.15487	2.42;2.42;2.42	5.66	3.72	0.42706	.	0.479031	0.18857	N	0.129223	T	0.14614	0.0353	L	0.50333	1.59	0.24182	N	0.99558	P;P	0.45474	0.859;0.859	B;B	0.40534	0.332;0.246	T	0.13415	-1.0510	10	0.37606	T	0.19	-8.3662	5.8518	0.18697	0.1536:0.0:0.6145:0.2319	.	771;771	O43303;O43303-2	CP110_HUMAN;.	F	771	ENSP00000379515:L771F;ENSP00000370803:L771F;ENSP00000379511:L771F	ENSP00000370803:L771F	L	+	3	2	CCP110	19461529	0.998000	0.40836	0.999000	0.59377	0.975000	0.68041	1.273000	0.33121	0.747000	0.32809	-0.137000	0.14449	TTG	CCP110	-	NULL	ENSG00000103540		0.393	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2		0	26	0	G	NM_014711		19554028	1			no_errors	ENST00000381396	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	19554028	G	T	19554028	3	4	116	1	0	0	0	0	1	0	0	0	3795	1281	45	3	2335	3	CP110	16	19554028	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	17560923	19554028	70800725	119	30989											
SIAH1	6477	genome.wustl.edu	37	chr16	48396037	48396037	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gttatttcacatccagaagaCgcatatttacaggggaaaag	15	10	9	7	1	1	2	1	0	0	2	2	3	2	3	1	2	1	2	1	2	6	5			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:48396037C>T	ENST00000380006.2	-	1	1756	c.303G>A	c.(301-303)gcG>gcA	p.A101A	SIAH1_ENST00000394725.2_Silent_p.A101A|SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000356721.3_Silent_p.A132A			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	101	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)				ATCCAGAAGACGCATATTTAC	0.483																																																	0													78	65	70					16																	48396037		2200	4300	6500	SO:0001819	synonymous_variant	0			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.303G>A	16.37:g.48396037C>T			A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH	p.A132	ENST00000380006.2	37	c.396	CCDS10735.1	16																																																																																			SIAH1	-	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_SIAH	ENSG00000196470		0.483	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	SIAH1	HGNC	protein_coding	OTTHUMT00000256842.12	-	0	59	0	C			48396037	-1	tier1	-	no_errors	ENST00000356721	ensembl	human	known	74_37	silent	24.10	63	20	SNP	1.000	T	T	48396037	C	T	48396037	2	4	116	1	0	0	0	0	0	0	0	1	14344	523	19	1		1	SIAH1	16	48396037	Silent	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	28842009	48396037	41958716	120	30990											
SLC12A3	6559	genome.wustl.edu	37	chr16	56924229	56924229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgtgtcatgaggatgCgggagggactcaacgtgtcc	7	9	17	8	3	2	1	2	1	0	0	3	4	3	4	1	3	2	0	1	3	1	0			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:56924229C>T	ENST00000563236.1	+	19	2354	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	SLC12A3_ENST00000566786.1_Missense_Mutation_p.R776W|SLC12A3_ENST00000438926.2_Missense_Mutation_p.R777W|SLC12A3_ENST00000262502.5_Missense_Mutation_p.R776W			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	777					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)	CATGAGGATGCGGGAGGGACT	0.517																																																	0													189	132	151					16																	56924229		2198	4300	6498	SO:0001583	missense	0				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.2329C>T	16.37:g.56924229C>T	ENSP00000456149:p.Arg777Trp		A8MSJ2|C9JNN9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.R777W	ENST00000563236.1	37	c.2329	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	C	16.63	3.178084	0.57692	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.63	4.62	0.57501	.	0.167944	0.50627	D	0.000113	T	0.68375	0.2994	L	0.58101	1.795	0.45867	D	0.998725	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.61275	0.827;0.772;0.886	T	0.70981	-0.4724	9	0.72032	D	0.01	.	13.1326	0.59391	0.2761:0.7239:0.0:0.0	.	776;777;777	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	W	776;777	.	ENSP00000262502:R777W	R	+	1	2	SLC12A3	55481730	1.000000	0.71417	0.998000	0.56505	0.271000	0.26615	3.005000	0.49521	2.644000	0.89710	0.655000	0.94253	CGG	SLC12A3	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000070915		0.517	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	-	0	126	0	C			56924229	1	tier1	-	no_errors	ENST00000438926	ensembl	human	known	74_37	missense	38.89	66	42	SNP	0.980	T	T	56924229	C	T	56924229	3	4	116	1	0	0	0	0	1	0	0	0	14429	759	27	1	2403	1	SLC12A3	16	56924229	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	8528192	56924229	33430524	121	30991											
EXOC3L	283849	genome.wustl.edu	37	chr16	67222636	67222636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgctcacctgcccgcagccGaggcagcaggtgagacaggg	9	4	15	13	2	1	1	1	1	0	1	1	3	1	1	3	3	4	4	3	3	0	0			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:67222636G>A	ENST00000314586.6	-	4	655	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	139	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCCCGCAGCCGAGGCAGCAGG	0.627																																																	0													36	38	38					16																	67222636		2198	4300	6498	SO:0001583	missense	0			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.415C>T	16.37:g.67222636G>A	ENSP00000325674:p.Arg139Trp		A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	pfam_Sec6	p.R139W	ENST00000314586.6	37	c.415	CCDS10832.1	16	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136438	0.56936	.	.	ENSG00000179044	ENST00000314586	T	0.09163	3.01	5.71	3.56	0.40772	.	0.285269	0.34025	N	0.004326	T	0.23330	0.0564	M	0.68317	2.08	0.42502	D	0.992935	D	0.89917	1.0	D	0.63283	0.913	T	0.00992	-1.1488	10	0.38643	T	0.18	-31.1978	7.3969	0.26942	0.0771:0.0:0.5449:0.378	.	139	Q86VI1	EX3L1_HUMAN	W	139	ENSP00000325674:R139W	ENSP00000325674:R139W	R	-	1	2	EXOC3L1	65780137	1.000000	0.71417	0.996000	0.52242	0.574000	0.36063	2.807000	0.47955	0.560000	0.29169	0.655000	0.94253	CGG	EXOC3L1	-	NULL	ENSG00000179044		0.627	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L1	HGNC	protein_coding	OTTHUMT00000268827.2	-	0	46	0	G	NM_178516		67222636	-1	tier1	-	no_errors	ENST00000314586	ensembl	human	known	74_37	missense	37.78	28	17	SNP	0.982	A	A	67222636	G	A	67222636	3	1	116	1	0	0	0	0	1	0	0	0	5320	1057	37	1	1869	1	EXOC3L	16	67222636	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	10298407	67222636	23132117	122	30992											
CIRH1A	84916	genome.wustl.edu	37	chr16	69194279	69194279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacagtggaggccatgtgtCttttggcagtcagtccagat	9	11	13	8	0	2	1	1	0	1	1	3	3	3	2	2	3	1	1	2	3	1	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:69194279C>G	ENST00000314423.7	+	13	1642	c.1465C>G	c.(1465-1467)Ctt>Gtt	p.L489V	CIRH1A_ENST00000352319.4_Missense_Mutation_p.L374V|CIRH1A_ENST00000563094.1_Missense_Mutation_p.L489V			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	489					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)		GGCCATGTGTCTTTTGGCAGT	0.498																																					Melanoma(69;1156 1278 4951 8715 52012)												0													283	252	262					16																	69194279		2198	4300	6498	SO:0001583	missense	0			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.1465C>G	16.37:g.69194279C>G	ENSP00000327179:p.Leu489Val		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L489V	ENST00000314423.7	37	c.1465	CCDS10872.1	16	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554612	0.45487	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.28895	1.59;2.32	5.89	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.121472	0.52532	N	0.000065	T	0.29817	0.0745	M	0.64997	1.995	0.40650	D	0.982021	B;B	0.14438	0.001;0.01	B;B	0.20384	0.029;0.025	T	0.10268	-1.0637	10	0.17369	T	0.5	.	10.9422	0.47281	0.0:0.8494:0.0:0.1506	.	489;489	Q969X6;Q969X6-3	CIR1A_HUMAN;.	V	489;374	ENSP00000327179:L489V;ENSP00000339164:L374V	ENSP00000327179:L489V	L	+	1	0	CIRH1A	67751780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.984000	0.49353	1.514000	0.48869	0.650000	0.86243	CTT	CIRH1A	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat	ENSG00000141076		0.498	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIRH1A	HGNC	protein_coding	OTTHUMT00000268950.2	-	0	32	0	C	NM_032830		69194279	1	tier1	-	no_errors	ENST00000314423	ensembl	human	known	74_37	missense	25.00	27	9	SNP	1.000	G	G	69194279	C	G	69194279	3	3	116	1	0	0	0	0	1	0	0	0	3441	913	32	5	1511	5	CIRH1A	16	69194279	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	1971643	69194279	21160474	123	30993											
SNTB2	6645	genome.wustl.edu	37	chr16	69304146	69304146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgccgtggacaagagatgCctgggcgtcaccatgccaca	10	7	12	12	2	1	1	1	0	0	1	1	3	1	2	4	2	3	0	4	2	2	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:69304146C>T	ENST00000336278.4	+	4	1144	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	369	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		ACAAGAGATGCCTGGGCGTCA	0.453																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)												0													128	118	122					16																	69304146		2198	4300	6498	SO:0001583	missense	0			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1106C>T	16.37:g.69304146C>T	ENSP00000338191:p.Ala369Val		Q9BY09	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.A369V	ENST00000336278.4	37	c.1106	CCDS10873.1	16	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036221	0.93630	.	.	ENSG00000168807	ENST00000336278;ENST00000467311	T	0.49432	0.78	5.99	5.99	0.97316	Pleckstrin homology domain (2);	0.174909	0.51477	D	0.000092	T	0.50103	0.1596	M	0.73962	2.25	0.41220	D	0.986504	P	0.39920	0.695	B	0.37692	0.256	T	0.52823	-0.8524	10	0.41790	T	0.15	-35.0911	14.8656	0.70412	0.1436:0.8564:0.0:0.0	.	369	Q13425	SNTB2_HUMAN	V	369;20	ENSP00000338191:A369V	ENSP00000338191:A369V	A	+	2	0	SNTB2	67861647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.111000	0.57838	2.840000	0.97914	0.655000	0.94253	GCC	SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000168807		0.453	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	-	0	54	0	C			69304146	1	tier1	-	no_errors	ENST00000336278	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	69304146	C	T	69304146	3	4	116	1	0	0	0	0	1	0	0	0	14918	739	26	3	1120	3	SNTB2	16	69304146	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	109867	69304146	21050607	124	30994											
TP53	7157	genome.wustl.edu	37	chr17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	cagaatgcaagaagcccagaCggaaaccgtagctgccctgg	13	4	12	12	2	0	3	0	0	0	3	0	4	0	4	3	2	5	3	3	2	5	1	rs11540654|rs587780066	byFrequency	TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr17:7579358C>A	ENST00000269305.4	-	4	518	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000420246.2_Missense_Mutation_p.R110L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAGCCCAGACGGAAACCGTA	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(15)|lung(13)|breast(8)|large_intestine(5)|urinary_tract(5)|liver(4)|bone(4)|soft_tissue(3)|oesophagus(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM984590	TP53	M	rs11540654						63	60	61					17																	7579358		2203	4300	6503	SO:0001583	missense	0	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.329G>T	17.37:g.7579358C>A	ENSP00000269305:p.Arg110Leu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R110L	ENST00000269305.4	37	c.329	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091694	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99242	0.9736	L	0.52759	1.655	0.09310	N	1	P;P;P;B;B;B;P	0.51537	0.946;0.941;0.459;0.347;0.373;0.362;0.782	P;P;B;B;B;P;B	0.57152	0.523;0.814;0.269;0.211;0.405;0.49;0.337	D	0.99938	1.1378	10	0.66056	D	0.02	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	110	ENSP00000410739:R110L;ENSP00000352610:R110L;ENSP00000269305:R110L;ENSP00000398846:R110L;ENSP00000391127:R110L;ENSP00000391478:R110L;ENSP00000424104:R110L;ENSP00000426252:R110L	ENSP00000269305:R110L	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	261	0	C	NM_000546		7579358	-1	tier1	rs11540654	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	54.19	142	168	SNP	0.004	A	A	7579358	C	A	7579358	3	1	116	1	0	0	0	0	1	0	0	0	16429	536	19	2	973	2	TP53	17	7579358	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09		7579358	73615852	125	30995											
SEBOX	147007	genome.wustl.edu	37	chr17	26691418	26691418	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccccagctgatccccatgGggctacagctttagcccctt	7	9	9	16	0	0	1	0	1	0	0	1	1	1	1	6	2	5	3	6	2	2	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr17:26691418G>T	ENST00000292114.3	+	0	3148				CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.7_ENST00000577850.1_RNA|VTN_ENST00000431468.1_Missense_Mutation_p.P175T|VTN_ENST00000536498.1_Missense_Mutation_p.P174T|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_3'UTR|CTB-96E2.2_ENST00000555059.2_3'UTR|VTN_ENST00000438614.1_Missense_Mutation_p.P174T	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GATCCCCATGGGGCTACAGCT	0.602																																																	0													24	28	27					17																	26691418		1964	4144	6108	SO:0001628	intergenic_variant	0			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691418G>T				Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P175T	ENST00000292114.3	37	c.523	CCDS11228.1	17	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897022	0.17686	.	.	ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000258852	ENST00000431468;ENST00000536498;ENST00000438614;ENST00000247029;ENST00000555059	D;D;D	0.91843	-2.85;-2.92;-2.92	5.06	4.06	0.47325	.	0.402810	0.21428	N	0.074707	D	0.85932	0.5812	L	0.34521	1.04	0.26858	N	0.968023	P;P	0.38148	0.62;0.62	B;B	0.36244	0.22;0.22	T	0.77122	-0.2704	10	0.29301	T	0.29	.	11.0165	0.47691	0.0:0.1881:0.8119:0.0	.	175;174	Q9HB31;C9JDG5	SEBOX_HUMAN;.	T	175;174;174;179;200	ENSP00000416240:P175T;ENSP00000444503:P174T;ENSP00000395142:P174T	ENSP00000247029:P179T	P	-	1	0	VTN;CTB-96E2.2	23715545	0.270000	0.24152	0.734000	0.30879	0.070000	0.16714	1.168000	0.31859	1.296000	0.44742	0.555000	0.69702	CCA	VTN	-	NULL	ENSG00000109072		0.602	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTN	HGNC	protein_coding	OTTHUMT00000255676.2	-	0	37	0	G	NM_152464		26691418	-1	tier1	-	no_errors	ENST00000431468	ensembl	human	known	74_37	missense	53.66	19	22	SNP	0.369	T	T	26691418	G	T	26691418	1	4	116	0	1	0	0	0	0	0	0	0	14022	1232	43	3		3	SEBOX	17	26691418	IGR	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	19112060	26691418	54503792	126	30996											
ATAD5	79915	genome.wustl.edu	37	chr17	29161960	29161960	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gagataccagactctacaatGtcaatttgtgttccttctga	11	14	7	9	0	3	3	1	1	2	2	4	4	4	3	2	0	2	1	2	0	4	5	rs60663953|rs80170526|rs398102309|rs72427574	byFrequency	TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr17:29161960G>T	ENST00000321990.4	+	2	1239	c.861G>T	c.(859-861)atG>atT	p.M287I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	287					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)				ACTCTACAATGTCAATTTGTG	0.348																																																	0													40	40	40					17																	29161960		2195	4274	6469	SO:0001583	missense	0				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.861G>T	17.37:g.29161960G>T	ENSP00000313171:p.Met287Ile		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.M287I	ENST00000321990.4	37	c.861	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	5.215	0.225221	0.09916	.	.	ENSG00000176208	ENST00000321990	T	0.18810	2.19	5.61	0.154	0.14901	.	1.134440	0.06347	N	0.709245	T	0.15435	0.0372	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33445	-0.9868	10	0.45353	T	0.12	.	6.4897	0.22109	0.3734:0.0:0.5153:0.1114	.	287;287	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	I	287	ENSP00000313171:M287I	ENSP00000313171:M287I	M	+	3	0	ATAD5	26186086	0.003000	0.15002	0.005000	0.12908	0.767000	0.43475	0.774000	0.26675	-0.077000	0.12752	0.655000	0.94253	ATG	ATAD5	-	NULL	ENSG00000176208		0.348	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2		0	9	0	G	NM_024857		29161960	1			no_errors	ENST00000321990	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.000	T	T	29161960	G	T	29161960	3	4	116	1	0	0	0	0	1	0	0	0	1077	1377	48	3	867	3	ATAD5	17	29161960	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	2470542	29161960	52033250	127	30997											
CACNA1G	8913	genome.wustl.edu	37	chr17	48673930	48673930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccctgccctagggagatgCcaacaagtccgaatcagagc	11	6	10	14	1	1	2	1	0	0	2	3	4	3	2	5	1	4	0	5	1	4	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr17:48673930C>T	ENST00000359106.5	+	15	2987	c.2987C>T	c.(2986-2988)gCc>gTc	p.A996V	CACNA1G_ENST00000515411.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A973V|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A996V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A996V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A973V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A973V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A973V|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A973V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A973V|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A996V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A973V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A996V|CACNA1G_ENST00000352832.5_Missense_Mutation_p.A973V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A996V	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	996					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)	TAGGGAGATGCCAACAAGTCC	0.607																																																	0													87	95	92					17																	48673930		2113	4210	6323	SO:0001583	missense	0			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.2987C>T	17.37:g.48673930C>T	ENSP00000352011:p.Ala996Val		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.A996V	ENST00000359106.5	37	c.2987	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	33	5.209029	0.95069	.	.	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	0.97232	-4.23;-4.23;-4.3;-4.19;-4.23;-4.21;-4.18;-4.24;-4.28;-4.22;-4.23;-4.1;-4.12;-4.18;-4.14;-4.16;-4.18;-4.13;-4.11;-4.16;-4.22;-4.12;-4.17;-4.1;-4.17;-4.17	5.11	5.11	0.69529	.	0.381143	0.23813	N	0.044302	D	0.98118	0.9379	M	0.75615	2.305	0.58432	D	0.999999	D;D;D;D;P;D;D;P;D;P;P;D;D;P;D;P;D;D;P;D;D;D;D;P;D;D	0.71674	0.998;0.982;0.966;0.997;0.945;0.998;0.998;0.907;0.998;0.895;0.893;0.989;0.991;0.907;0.998;0.886;0.987;0.994;0.895;0.989;0.997;0.982;0.969;0.948;0.993;0.992	D;P;P;D;P;D;D;P;D;P;B;P;P;P;D;P;D;P;B;P;D;P;P;P;D;D	0.79784	0.978;0.806;0.744;0.989;0.564;0.993;0.986;0.627;0.986;0.573;0.423;0.905;0.806;0.507;0.993;0.715;0.926;0.758;0.392;0.802;0.97;0.855;0.656;0.655;0.978;0.966	D	0.97814	1.0252	10	0.28530	T	0.3	.	17.5445	0.87857	0.0:1.0:0.0:0.0	.	973;996;996;996;996;996;996;996;996;996;996;973;996;996;996;996;996;973;996;973;973;973;973;996;973;996	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;.;.	V	973;973;996;973;973;973;996;996;973;996;996;996;996;996;996;973;996;996;996;996;973;996;996;996;996;996	ENSP00000353990:A973V;ENSP00000339302:A973V;ENSP00000392390:A996V;ENSP00000347078:A973V;ENSP00000409759:A973V;ENSP00000425522:A973V;ENSP00000426261:A996V;ENSP00000425451:A996V;ENSP00000422407:A973V;ENSP00000426814:A996V;ENSP00000427238:A996V;ENSP00000423112:A996V;ENSP00000420918:A996V;ENSP00000426172:A996V;ENSP00000423045:A996V;ENSP00000427173:A973V;ENSP00000426098:A996V;ENSP00000425698:A996V;ENSP00000426232:A996V;ENSP00000423317:A996V;ENSP00000350979:A973V;ENSP00000352011:A996V;ENSP00000414388:A996V;ENSP00000423155:A996V;ENSP00000422268:A996V;ENSP00000421518:A996V	ENSP00000339302:A973V	A	+	2	0	CACNA1G	46028929	0.996000	0.38824	1.000000	0.80357	0.979000	0.70002	2.843000	0.48238	2.375000	0.81037	0.561000	0.74099	GCC	CACNA1G	-	NULL	ENSG00000006283		0.607	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1		0	83	0	C	NM_018896		48673930	1			no_errors	ENST00000359106	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	48673930	C	T	48673930	3	4	116	1	0	0	0	0	1	0	0	0	2551	739	26	3	3045	3	CACNA1G	17	48673930	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	19511970	48673930	32521280	128	30998											
USP14	9097	genome.wustl.edu	37	chr18	180329	180329	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctgtgcctgaactcaaagatGcccttaaaaggtaagactgc	13	9	9	10	0	1	3	1	1	0	2	1	3	1	3	2	1	4	1	2	1	5	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr18:180329G>T	ENST00000261601.7	+	5	485	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	USP14_ENST00000383589.2_Missense_Mutation_p.A86S|USP14_ENST00000582707.1_Missense_Mutation_p.A97S|USP14_ENST00000400266.3_Missense_Mutation_p.A121S	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	132	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)				ACTCAAAGATGCCCTTAAAAG	0.383																																																	0													144	107	120					18																	180329		2203	4300	6503	SO:0001583	missense	0			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.394G>T	18.37:g.180329G>T	ENSP00000261601:p.Ala132Ser		J3QRZ5|Q53XY5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.A132S	ENST00000261601.7	37	c.394	CCDS32780.1	18	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778222	0.90195	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.31769	1.48;1.48	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	L	0.45051	1.395	0.80722	D	1	P;P;P	0.45634	0.863;0.771;0.863	P;P;P	0.50049	0.629;0.562;0.629	T	0.03761	-1.1006	10	0.40728	T	0.16	-5.9486	19.3691	0.94477	0.0:0.0:1.0:0.0	.	121;97;132	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	S	132;97;121	ENSP00000261601:A132S;ENSP00000383125:A121S	ENSP00000261601:A132S	A	+	1	0	USP14	170329	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.970000	0.76099	2.679000	0.91253	0.591000	0.81541	GCC	USP14	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000101557		0.383	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP14	HGNC	protein_coding	OTTHUMT00000440305.3	-	0	48	0	G	NM_005151		180329	1	tier1	-	no_errors	ENST00000261601	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	180329	G	T	180329	3	4	116	1	0	0	0	0	1	0	0	0	17094	1319	46	3	412	3	USP14	18	180329	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09		180329	77896919	129	30999											
ZNF519	162655	genome.wustl.edu	37	chr18	14105961	14105961	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagggaaaataagctttgagGattggtaaaatactttttca	15	13	9	4	0	1	1	1	1	0	0	1	3	1	3	0	3	2	2	0	3	6	7			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr18:14105961G>C	ENST00000590202.1	-	3	730	c.578C>G	c.(577-579)tCc>tGc	p.S193C	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	193					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AAGCTTTGAGGATTGGTAAAA	0.284																																																	0													40	42	41					18																	14105961		2189	4271	6460	SO:0001583	missense	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.578C>G	18.37:g.14105961G>C	ENSP00000464872:p.Ser193Cys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S193C	ENST00000590202.1	37	c.578	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	G	6.355	0.433589	0.12045	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23289	0.0563	L	0.43554	1.36	0.09310	N	1	P	0.34562	0.457	B	0.30716	0.119	T	0.09250	-1.0683	8	0.40728	T	0.16	.	3.568	0.07907	0.2498:0.4955:0.2547:0.0	.	193	Q8TB69	ZN519_HUMAN	C	193	.	ENSP00000307908:S193C	S	-	2	0	ZNF519	14095961	0.000000	0.05858	0.000000	0.03702	0.281000	0.26958	-3.252000	0.00539	-1.189000	0.02702	0.089000	0.15464	TCC	ZNF519	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175322		0.284	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	-	0	21	0	G	NM_145287		14105961	-1	tier1	-	no_errors	ENST00000590202	ensembl	human	known	74_37	missense	44.83	16	13	SNP	0.000	C	C	14105961	G	C	14105961	3	2	116	1	0	0	0	0	1	0	0	0	18012	1174	41	5	1048	5	ZNF519	18	14105961	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	13925632	14105961	63971287	130	31000											
ROCK1	6093	genome.wustl.edu	37	chr18	18559913	18559913	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctttaaattttctctgTttttttcttcaatttcttct	5	28	1	7	0	6	0	1	0	5	0	7	0	6	0	0	0	0	1	0	0	3	12			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr18:18559913T>G	ENST00000399799.2	-	22	3552	c.2612A>C	c.(2611-2613)aAc>aCc	p.N871T		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	871	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATTTTCTCTGTTTTTTTCTTC	0.299																																																	0													73	70	71					18																	18559913		2183	4286	6469	SO:0001583	missense	0				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.2612A>C	18.37:g.18559913T>G	ENSP00000382697:p.Asn871Thr		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.N871T	ENST00000399799.2	37	c.2612	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	T	2.853	-0.237958	0.05944	.	.	ENSG00000067900	ENST00000399799	T	0.13420	2.59	5.29	2.88	0.33553	.	0.050746	0.85682	D	0.000000	T	0.05686	0.0149	N	0.12887	0.27	0.47994	D	0.999564	B	0.02656	0.0	B	0.04013	0.001	T	0.31861	-0.9928	10	0.08837	T	0.75	.	5.6448	0.17584	0.0:0.1398:0.1441:0.7162	.	871	Q13464	ROCK1_HUMAN	T	871	ENSP00000382697:N871T	ENSP00000382697:N871T	N	-	2	0	ROCK1	16813911	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.714000	0.47202	0.421000	0.25980	0.460000	0.39030	AAC	ROCK1	-	pirsf_Rho-assoc_coiled-coil_kin	ENSG00000067900		0.299	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	-	0	51	0	T	NM_005406		18559913	-1	tier1	-	no_errors	ENST00000399799	ensembl	human	known	74_37	missense	26.87	49	18	SNP	1.000	G	G	18559913	T	G	18559913	3	3	116	1	0	0	0	0	1	0	0	0	13562	1725	60	4	1500	4	ROCK1	18	18559913	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	4453952	18559913	59517335	131	31001											
ATP8B1	5205	genome.wustl.edu	37	chr18	55334329	55334329	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcttttactcacttaatAtcctccccatagcagatggt	10	13	6	12	0	1	1	1	0	0	1	3	1	3	1	3	2	2	2	3	2	4	5			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr18:55334329A>G	ENST00000283684.4	-	19	2279	c.2280T>C	c.(2278-2280)gaT>gaC	p.D760D	ATP8B1_ENST00000536015.1_Silent_p.D760D|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	760					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTCACTTAATATCCTCCCCAT	0.363																																																	0													113	105	108					18																	55334329		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2280T>C	18.37:g.55334329A>G			Q9BTP8	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.D760	ENST00000283684.4	37	c.2280	CCDS11965.1	18																																																																																			ATP8B1	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000081923		0.363	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	-	0	19	0	A	NM_005603		55334329	-1	tier1	-	no_errors	ENST00000283684	ensembl	human	known	74_37	silent	24.14	22	7	SNP	0.993	G	G	55334329	A	G	55334329	2	3	116	1	0	0	0	0	0	0	0	1	1195	446	16	4		4	ATP8B1	18	55334329	Silent	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	36774416	55334329	22742919	132	31002											
ZCCHC2	54877	genome.wustl.edu	37	chr18	60241388	60241388	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactgtcaagccacctgttCaaattgcttcactaggaaat	12	12	6	11	0	4	0	4	0	0	0	4	1	4	1	2	1	2	2	2	1	4	4			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr18:60241388C>T	ENST00000269499.5	+	13	2492	c.2074C>T	c.(2074-2076)Caa>Taa	p.Q692*	ZCCHC2_ENST00000586834.1_Nonsense_Mutation_p.Q371*	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	692						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						GCCACCTGTTCAAATTGCTTC	0.413																																																	0													149	141	143					18																	60241388		1887	4112	5999	SO:0001587	stop_gained	0			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.2074C>T	18.37:g.60241388C>T	ENSP00000269499:p.Gln692*		B2RPG6|Q8N3S1|Q9NXF6	Nonsense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q692*	ENST00000269499.5	37	c.2074	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978415	0.92982	.	.	ENSG00000141664	ENST00000269499	.	.	.	5.9	3.05	0.35203	.	0.927646	0.09211	N	0.833225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	1.7617	11.2216	0.48857	0.1274:0.5786:0.294:0.0	.	.	.	.	X	692	.	ENSP00000269499:Q692X	Q	+	1	0	ZCCHC2	58392368	0.687000	0.27671	0.049000	0.19019	0.846000	0.48090	1.888000	0.39708	0.330000	0.23485	0.650000	0.86243	CAA	ZCCHC2	-	NULL	ENSG00000141664		0.413	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	-	0	49	0	C	NM_017742		60241388	1	tier1	-	no_errors	ENST00000269499	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	0.202	T	T	60241388	C	T	60241388	4	4	116	1	0	0	0	0	0	1	0	0	17635	827	29	3	2124	3	ZCCHC2	18	60241388	Nonsense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	4907059	60241388	17835860	133	31003											
MKNK2	2872	genome.wustl.edu	37	chr19	2046658	2046658	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccgtggtcgggctggtcTagggagaaggccagctcgaa	7	8	16	10	3	2	1	0	0	2	1	5	3	2	1	2	5	1	2	2	5	3	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:2046658T>A	ENST00000591601.1	-	2	119	c.84A>T	c.(82-84)ctA>ctT	p.L28L	MKNK2_ENST00000309340.7_Silent_p.L28L|MKNK2_ENST00000541165.1_5'UTR|MKNK2_ENST00000250896.3_Silent_p.L28L			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	28					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)		CGGGCTGGTCTAGGGAGAAGG	0.682																																																	0													25	19	21					19																	2046658		2174	4274	6448	SO:0001819	synonymous_variant	0			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.84A>T	19.37:g.2046658T>A			Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L28	ENST00000591601.1	37	c.84	CCDS12080.1	19																																																																																			MKNK2	-	NULL	ENSG00000099875		0.682	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	-	0	64	0	T	NM_199054		2046658	-1	tier1	-	no_errors	ENST00000250896	ensembl	human	known	74_37	silent	10.94	57	7	SNP	0.997	A	A	2046658	T	A	2046658	2	1	116	1	0	0	0	0	0	0	0	1	9643	1509	53	5		5	MKNK2	19	2046658	Silent	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09		2046658	57082325	134	31004											
ANKRD24	170961	genome.wustl.edu	37	chr19	4210081	4210081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtccagccatggaaagcaGggggcccccaagaagcggaa	13	3	14	11	1	0	1	0	0	0	1	1	3	1	3	4	4	3	1	4	4	4	0			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:4210081G>T	ENST00000600132.1	+	12	1173	c.897G>T	c.(895-897)caG>caT	p.Q299H	ANKRD24_ENST00000262970.5_Missense_Mutation_p.Q389H|ANKRD24_ENST00000595096.1_3'UTR|RN7SL84P_ENST00000578969.1_RNA|ANKRD24_ENST00000318934.4_Missense_Mutation_p.Q299H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	299										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ATGGAAAGCAGGGGGCCCCCA	0.662																																																	0													18	22	21					19																	4210081		1843	4079	5922	SO:0001583	missense	0			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.897G>T	19.37:g.4210081G>T	ENSP00000471252:p.Gln299His		O75268|O95781	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q299H	ENST00000600132.1	37	c.897	CCDS45925.1	19	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368076	0.24771	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.34472	1.36;1.39	4.31	-1.0	0.10196	.	.	.	.	.	T	0.26810	0.0656	L	0.44542	1.39	0.09310	N	1	P;P	0.40032	0.574;0.699	B;B	0.38020	0.095;0.263	T	0.14392	-1.0474	9	0.62326	D	0.03	0.4587	6.3051	0.21135	0.2966:0.1741:0.5293:0.0	.	299;389	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	H	299;389	ENSP00000321731:Q299H;ENSP00000262970:Q389H	ENSP00000262970:Q389H	Q	+	3	2	ANKRD24	4161081	0.024000	0.19004	0.088000	0.20740	0.788000	0.44548	0.811000	0.27198	-0.298000	0.08921	0.462000	0.41574	CAG	ANKRD24	-	NULL	ENSG00000089847		0.662	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	-	0	82	0	G	XM_114000		4210081	1	tier1	-	no_errors	ENST00000318934	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.005	T	T	4210081	G	T	4210081	3	4	116	1	0	0	0	0	1	0	0	0	653	991	35	3	939	3	ANKRD24	19	4210081	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	2163423	4210081	54918902	135	31005											
ZNF99	7652	genome.wustl.edu	37	chr19	22941211	22941211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttccatatgaattacCttatgtacagtaagttttga	11	18	5	7	0	1	2	0	2	1	0	3	2	2	2	2	0	2	3	2	0	6	9			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:22941211C>A	ENST00000596209.1	-	4	1590	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	ZNF99_ENST00000397104.3_Missense_Mutation_p.K409N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGAATTACCTTATGTACAG	0.348																																																	0													42	43	43					19																	22941211		2048	4212	6260	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1500G>T	19.37:g.22941211C>A	ENSP00000472969:p.Lys500Asn		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K409N	ENST00000596209.1	37	c.1227	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	11.35	1.611737	0.28712	.	.	ENSG00000213973	ENST00000397104	T	0.07688	3.17	1.16	-0.589	0.11683	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15739	0.0379	M	0.76838	2.35	0.24492	N	0.994299	P	0.49696	0.927	P	0.51701	0.677	T	0.11299	-1.0593	9	0.72032	D	0.01	.	3.4763	0.07586	0.0:0.543:0.2679:0.1891	.	409	A8MXY4	ZNF99_HUMAN	N	409	ENSP00000380293:K409N	ENSP00000380293:K409N	K	-	3	2	ZNF99	22733051	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.589000	0.05767	-0.342000	0.08363	0.194000	0.17425	AAG	ZNF99	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0	60	0	C	XM_065124		22941211	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.994	A	A	22941211	C	A	22941211	3	1	116	1	0	0	0	0	1	0	0	0	18252	680	24	3	1897	3	ZNF99	19	22941211	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	18731130	22941211	36187772	136	31006											
RYR1	6261	genome.wustl.edu	37	chr19	39075726	39075726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtcatcgtcatcctgttGgccatcatccagggtcagtg	6	13	10	12	2	4	0	4	0	0	0	8	0	6	0	3	2	0	1	3	2	0	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:39075726G>T	ENST00000359596.3	+	102	14790	c.14790G>T	c.(14788-14790)ttG>ttT	p.L4930F	RYR1_ENST00000355481.4_Missense_Mutation_p.L4925F|RYR1_ENST00000360985.3_Missense_Mutation_p.L4925F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4930					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)	TCATCCTGTTGGCCATCATCC	0.602																																																	0													194	134	154					19																	39075726		2203	4300	6503	SO:0001583	missense	0			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.14790G>T	19.37:g.39075726G>T	ENSP00000352608:p.Leu4930Phe		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L4930F	ENST00000359596.3	37	c.14790	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176080	0.38413	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98849	-5.18;-5.18;-5.18	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.52532	U	0.000077	D	0.99321	0.9762	M	0.91196	3.185	0.52099	D	0.999947	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.98994	1.0809	10	0.87932	D	0	.	18.3248	0.90250	0.0:0.0:1.0:0.0	.	4925;4930	P21817-2;P21817	.;RYR1_HUMAN	F	4930;4925;4925	ENSP00000352608:L4930F;ENSP00000347667:L4925F;ENSP00000354254:L4925F	ENSP00000347667:L4925F	L	+	3	2	RYR1	43767566	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.206000	0.32321	2.658000	0.90341	0.449000	0.29647	TTG	RYR1	-	pfam_Ion_trans_dom	ENSG00000196218		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1		0	46	0	G			39075726	1			no_errors	ENST00000359596	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	39075726	G	T	39075726	3	4	116	1	0	0	0	0	1	0	0	0	13813	1339	47	3	15196	3	RYR1	19	39075726	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	16134515	39075726	20053257	137	31007											
EIF3K	27335	genome.wustl.edu	37	chr19	39123261	39123261	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatctgccatgttgtgggtAtcacttaccagcacattgac	9	14	8	10	0	2	1	1	1	1	0	2	1	2	1	2	1	3	3	2	1	3	5			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:39123261A>T	ENST00000538434.1	+	5	416	c.181A>T	c.(181-183)Atc>Ttc	p.I61F	EIF3K_ENST00000592558.1_Intron|EIF3K_ENST00000545173.2_Missense_Mutation_p.I148F|EIF3K_ENST00000248342.4_Missense_Mutation_p.I148F|EIF3K_ENST00000588934.1_Intron|EIF3K_ENST00000593149.1_Missense_Mutation_p.I61F					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTTGTGGGTATCACTTACCA	0.617																																																	0													77	65	69					19																	39123261		2203	4300	6503	SO:0001583	missense	0			AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"eukaryotic translation initiation factor 3, subunit 12"	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.181A>T	19.37:g.39123261A>T	ENSP00000440999:p.Ile61Phe			Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	p.I148F	ENST00000538434.1	37	c.442		19	.	.	.	.	.	.	.	.	.	.	A	26.3	4.721227	0.89205	.	.	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	5.36	5.36	0.76844	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.99;0.986	T	0.82204	-0.0573	9	0.87932	D	0	-28.0935	14.6244	0.68611	1.0:0.0:0.0:0.0	.	61;148;148	B4DQ48;B7ZAM9;Q9UBQ5	.;.;EIF3K_HUMAN	F	148;61;148	.	ENSP00000248342:I148F	I	+	1	0	EIF3K	43815101	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	8.617000	0.90927	2.148000	0.66965	0.460000	0.39030	ATC	EIF3K	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	ENSG00000178982		0.617	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	EIF3K	HGNC	protein_coding	OTTHUMT00000453409.1	-	0	59	0	A	NM_013234		39123261	1	tier1	-	no_errors	ENST00000248342	ensembl	human	known	74_37	missense	35.09	37	20	SNP	1.000	T	T	39123261	A	T	39123261	3	4	116	1	0	0	0	0	1	0	0	0	5037	449	16	5	464	5	EIF3K	19	39123261	Missense_Mutation	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	47535	39123261	20005722	138	31008											
ZNF780B	163131	genome.wustl.edu	37	chr19	40542336	40542336	+	Missense_Mutation	SNP	T	T	C	0	1	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	aggcatttcttcatagctgaTgatcttctggttgatatatc	9	17	8	7	0	4	3	1	3	3	0	5	3	4	3	0	2	1	3	0	2	3	7			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:40542336T>C	ENST00000434248.1	-	5	495	c.430A>G	c.(430-432)Atc>Gtc	p.I144V	ZNF780B_ENST00000221355.6_5'UTR	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	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)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATAGCTGATGATCTTCTGG	0.373																																																	0													122	126	125					19																	40542336		2172	4288	6460	SO:0001583	missense	0			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.430A>G	19.37:g.40542336T>C	ENSP00000391641:p.Ile144Val		B9EH00	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I144V	ENST00000434248.1	37	c.430	CCDS46077.1	19	.	.	.	.	.	.	.	.	.	.	T	7.091	0.572203	0.13623	.	.	ENSG00000128000	ENST00000434248	T	0.04862	3.54	2.44	1.33	0.21861	.	.	.	.	.	T	0.10165	0.0249	L	0.32530	0.975	0.09310	N	0.999998	P	0.48640	0.913	P	0.61592	0.891	T	0.31530	-0.9940	9	0.16420	T	0.52	.	6.3324	0.21276	0.0:0.0:0.2543:0.7457	.	144	Q9Y6R6	Z780B_HUMAN	V	144	ENSP00000391641:I144V	ENSP00000391641:I144V	I	-	1	0	ZNF780B	45234176	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.078000	0.14761	0.059000	0.16252	0.260000	0.18958	ATC	ZNF780B	-	NULL	ENSG00000128000		0.373	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	-	0	73	0	T	NM_001005851		40542336	-1	tier1	-	no_errors	ENST00000434248	ensembl	human	known	74_37	missense	37.50	55	33	SNP	0.000	C	C	40542336	T	C	40542336	3	2	116	1	0	0	0	0	1	0	0	0	18201	1464	51	4	2075	4	ZNF780B	19	40542336	Missense_Mutation	SNP	T	TCGA-LN-A4A6-01A-11D-A27G-09	1419075	40542336	18586647	139	31009											
ZNF404	342908	genome.wustl.edu	37	chr19	44378184	44378185	+	Frame_Shift_Ins	INS	-	-	T																															cgcatttacttcataatttcINSttttttctgaagataacttg																										TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:44378184_44378185insT	ENST00000587539.1	-	3	180_181	c.181_182insA	c.(181-183)agafs	p.R61fs	ZNF404_ENST00000324394.6_Frame_Shift_Ins_p.R59fs	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TTCATAATTTCTTTTTTCTGAA	0.327																																																	0																																										SO:0001589	frameshift_variant	0			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.182dupA	19.37:g.44378190_44378190dupT	ENSP00000466051:p.Arg61fs		A4FU30|K7ELF2	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R61fs	ENST00000587539.1	37	c.182_181	CCDS59394.1	19																																																																																			ZNF404	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000176222		0.327	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	HGNC	protein_coding	OTTHUMT00000460019.1		0	20	0	-	NM_001033719		44378185	-1	tier1		no_errors	ENST00000587539	ensembl	human	known	74_37	frame_shift_ins	50.00	9	9	INS	0.000:0.004	T	T	44378185	-	T	44378184	7	5	116	1	0	1	1	0	0	0	0	0	17934	913	32	0	1480	0	ZNF404	19	44378184	Frame_Shift_Ins	INS	-	TCGA-LN-A4A6-01A-11D-A27G-09	3835848	44378184	14750799	140	31010											
CPT1C	126129	genome.wustl.edu	37	chr19	50207991	50207991	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gtgactggtgggaggaatttGtgtacctgcgctcccgaaat	8	11	14	8	2	0	1	0	1	0	0	1	4	1	3	2	3	2	2	2	3	3	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:50207991G>A	ENST00000392518.4	+	8	1090	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	CPT1C_ENST00000323446.5_Missense_Mutation_p.V240M|CPT1C_ENST00000354199.5_Missense_Mutation_p.V240M|CPT1C_ENST00000598293.1_Missense_Mutation_p.V240M|CPT1C_ENST00000405931.2_Missense_Mutation_p.V240M	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	240					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		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;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGAGGAATTTGTGTACCTGCG	0.602																																																	0													50	46	47					19																	50207991		2203	4300	6503	SO:0001583	missense	0			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.718G>A	19.37:g.50207991G>A	ENSP00000376303:p.Val240Met		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.V240M	ENST00000392518.4	37	c.718	CCDS12779.1	19	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511635	0.64522	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	4.46	3.41	0.39046	.	0.164115	0.28647	N	0.014613	D	0.89942	0.6861	L	0.39397	1.21	0.39467	D	0.967662	D;D;D;D	0.76494	0.996;0.996;0.999;0.993	D;D;D;D	0.76071	0.959;0.939;0.97;0.987	D	0.89794	0.3970	10	0.87932	D	0	-22.6937	7.7946	0.29140	0.1932:0.0:0.8067:0.0	.	78;240;240;240	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	M	240;240;240;240;78	ENSP00000376303:V240M;ENSP00000346138:V240M;ENSP00000384465:V240M;ENSP00000319343:V240M	ENSP00000295404:V78M	V	+	1	0	CPT1C	54899803	0.874000	0.30092	1.000000	0.80357	0.991000	0.79684	1.441000	0.35035	2.202000	0.70862	0.561000	0.74099	GTG	CPT1C	-	pfam_Carn_acyl_trans	ENSG00000169169		0.602	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	-	0	39	0	G	NM_152359		50207991	1	tier1	-	no_errors	ENST00000323446	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.997	A	A	50207991	G	A	50207991	3	1	116	1	0	0	0	0	1	0	0	0	3840	1377	48	3	740	3	CPT1C	19	50207991	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	5829807	50207991	8920992	141	31011											
SIGLEC5	8778	genome.wustl.edu	37	chr19	52133162	52133162	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctccacgcggaagaaataGcttcccgtgtcctccattct	8	11	7	15	3	2	1	0	0	2	1	6	2	5	2	4	1	1	1	4	1	3	3	rs559592597	byFrequency	TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:52133162G>A	ENST00000534261.2	-	3	744	c.345C>T	c.(343-345)agC>agT	p.S115S	SIGLEC5_ENST00000429354.3_Silent_p.S115S|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000570106.2_Silent_p.S115S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	115	Ig-like V-type.				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)		GGAAGAAATAGCTTCCCGTGT	0.542													G|||	33	0.00658946	0	0.0216	5008	,	,		17751	0.0169		0	False		,,,				2504	0.001																0													44	38	40					19																	52133162		2073	4030	6103	SO:0001819	synonymous_variant	0			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.345C>T	19.37:g.52133162G>A				Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S115	ENST00000534261.2	37	c.345	CCDS33088.1	19																																																																																			SIGLEC5	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000105501		0.542	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SIGLEC5	HGNC	protein_coding	OTTHUMT00000466897.2	-	0	19	0	G	NM_003830		52133162	-1	tier1	-	no_errors	ENST00000570106	ensembl	human	known	74_37	silent	46.15	7	6	SNP	0.046	A	A	52133162	G	A	52133162	2	1	116	1	0	0	0	0	0	0	0	1	14356	962	34	3		3	SIGLEC5	19	52133162	Silent	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	1925171	52133162	6995821	142	31012											
ZNF816A	125893	genome.wustl.edu	37	chr19	53454471	53454471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggattctgaagctgaggaaGcaccgatagacttgtccaat	12	9	12	8	1	1	3	0	2	1	1	2	6	2	5	2	2	2	2	2	2	4	3	rs200901929|rs79566976		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:53454471G>C	ENST00000357666.4	-	5	857	c.557C>G	c.(556-558)gCt>gGt	p.A186G	ZNF816_ENST00000444460.2_Missense_Mutation_p.A186G|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AGCTGAGGAAGCACCGATAGA	0.373																																																	0													89	112	104					19																	53454471		2202	4300	6502	SO:0001583	missense	0			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.557C>G	19.37:g.53454471G>C	ENSP00000350295:p.Ala186Gly		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A186G	ENST00000357666.4	37	c.557	CCDS33096.1	19	.	.	.	.	.	.	.	.	.	.	-	1.630	-0.519183	0.04171	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.05649	3.41;3.41	1.58	0.318	0.15867	.	.	.	.	.	T	0.08758	0.0217	N	0.19112	0.55	0.09310	N	1	D	0.69078	0.997	D	0.75020	0.985	T	0.35624	-0.9781	9	0.15952	T	0.53	.	5.7046	0.17901	0.0:0.4142:0.5858:0.0	.	186	Q0VGE8	ZN816_HUMAN	G	186	ENSP00000350295:A186G;ENSP00000403266:A186G	ENSP00000350295:A186G	A	-	2	0	ZNF816	58146283	0.000000	0.05858	0.002000	0.10522	0.176000	0.22953	-0.783000	0.04638	-0.053000	0.13289	0.185000	0.17295	GCT	ZNF816	-	NULL	ENSG00000180257		0.373	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1		0	36	0	G	NM_001031665		53454471	-1			no_errors	ENST00000357666	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.001	C	C	53454471	G	C	53454471	3	2	116	1	0	0	0	0	1	0	0	0	18225	971	34	5	1402	5	ZNF816A	19	53454471	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	1321309	53454471	5674512	143	31013											
TFPT	29844	genome.wustl.edu	37	chr19	54617837	54617837	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctacctgctcgatctcccgGcagcgccgacctagtgcctg	5	8	10	18	4	1	0	0	0	1	0	3	2	1	0	6	1	4	2	6	1	2	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:54617837G>T	ENST00000391759.1	-	2	672	c.267C>A	c.(265-267)tgC>tgA	p.C89*	PRPF31_ENST00000419967.1_5'Flank|TFPT_ENST00000391758.1_Nonsense_Mutation_p.C80*|TFPT_ENST00000391757.1_Nonsense_Mutation_p.C89*|PRPF31_ENST00000321030.4_5'Flank	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	89					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CGATCTCCCGGCAGCGCCGAC	0.652			T	TCF3	pre-B ALL																																			Dom	yes		19	19q13	29844	TCF3 (E2A) fusion partner (in childhood Leukemia)		L	0													37	42	40					19																	54617837		2203	4300	6503	SO:0001587	stop_gained	0			AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"INO80 complex subunits"	13630	protein-coding gene	gene with protein product	"amida, partner of the E2A", "INO80 complex subunit F"	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.267C>A	19.37:g.54617837G>T	ENSP00000375639:p.Cys89*			Nonsense_Mutation	SNP	NULL	p.C89*	ENST00000391759.1	37	c.267	CCDS12878.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.173468	0.97348	.	.	ENSG00000105619	ENST00000391759;ENST00000391758;ENST00000391757	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.1288	17.1463	0.86767	0.0:0.0:1.0:0.0	.	.	.	.	X	89;80;89	.	ENSP00000375637:C89X	C	-	3	2	TFPT	59309649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.933000	0.48948	2.409000	0.81822	0.563000	0.77884	TGC	TFPT	-	NULL	ENSG00000105619		0.652	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPT	HGNC	protein_coding	OTTHUMT00000141215.4	-	0	47	0	G	NM_013342		54617837	-1	tier1	-	no_errors	ENST00000391759	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	1.000	T	T	54617837	G	T	54617837	4	4	116	1	0	0	0	0	0	1	0	0	15857	1195	42	3	514	3	TFPT	19	54617837	Nonsense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	1163366	54617837	4511146	144	31014											
SYCP2	10388	genome.wustl.edu	37	chr20	58495530	58495530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaacattgtggatatcctCtttattaagttcctgaaata	13	16	6	6	0	1	2	0	2	1	0	3	3	3	3	2	1	1	1	2	1	6	7			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr20:58495530C>T	ENST00000357552.3	-	5	406	c.181G>A	c.(181-183)Gag>Aag	p.E61K	SYCP2_ENST00000476314.1_5'UTR|SYCP2_ENST00000371001.2_Missense_Mutation_p.E61K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	61					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)			TGGATATCCTCTTTATTAAGT	0.318																																																	0													61	53	56					20																	58495530		2201	4296	6497	SO:0001583	missense	0			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.181G>A	20.37:g.58495530C>T	ENSP00000350162:p.Glu61Lys		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.E61K	ENST00000357552.3	37	c.181	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	1.975	-0.435555	0.04669	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834;ENST00000425931	T;T;T;T	0.39229	3.48;3.48;3.48;1.09	5.63	4.54	0.55810	.	0.438795	0.23418	N	0.048397	T	0.09335	0.0230	N	0.00347	-1.61	0.21762	N	0.999556	B	0.06786	0.001	B	0.04013	0.001	T	0.34502	-0.9826	10	0.02654	T	1	-3.2729	5.7944	0.18379	0.0:0.1572:0.1545:0.6883	.	61	Q9BX26	SYCP2_HUMAN	K	61;61;61;60	ENSP00000360040:E61K;ENSP00000350162:E61K;ENSP00000402456:E61K;ENSP00000399300:E60K	ENSP00000350162:E61K	E	-	1	0	SYCP2	57928925	0.997000	0.39634	0.980000	0.43619	0.681000	0.39784	1.356000	0.34079	0.987000	0.38709	-0.302000	0.09304	GAG	SYCP2	-	NULL	ENSG00000196074		0.318	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	-	0	29	0	C	NM_014258		58495530	-1	tier1	-	no_errors	ENST00000357552	ensembl	human	known	74_37	missense	47.62	22	20	SNP	0.998	T	T	58495530	C	T	58495530	3	4	116	1	0	0	0	0	1	0	0	0	15479	922	32	3	4575	3	SYCP2	20	58495530	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09		58495530	4529990	145	31015											
SLC2A4RG	56731	genome.wustl.edu	37	chr20	62374233	62374233	+	Splice_Site	SNP	A	A	T	1	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	cctgtgaccccccgcacaggAagccccgcggcgacgcgaag	8	2	13	18	6	0	1	0	1	0	0	0	4	0	2	6	2	1	1	6	2	2	0			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr20:62374233A>T	ENST00000266077.2	+	8	1106	c.1054A>T	c.(1054-1056)Aag>Tag	p.K352*	SLC2A4RG_ENST00000493772.1_3'UTR|RP4-583P15.10_ENST00000433905.2_RNA|RP4-583P15.10_ENST00000447343.2_RNA	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	352					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)					CCCGCACAGGAAGCCCCGCGG	0.682																																																	0													22	28	26					20																	62374233		2196	4295	6491	SO:0001630	splice_region_variant	0			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.1053-1A>T	20.37:g.62374233A>T			Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K352*	ENST00000266077.2	37	c.1054	CCDS13537.1	20	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243727	0.79912	.	.	ENSG00000125520	ENST00000266077	.	.	.	4.17	4.17	0.49024	.	0.000000	0.51477	U	0.000087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-46.2955	12.0424	0.53460	1.0:0.0:0.0:0.0	.	.	.	.	X	352	.	ENSP00000266077:K352X	K	+	1	0	SLC2A4RG	61844677	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	3.671000	0.54576	1.525000	0.49052	0.260000	0.18958	AAG	SLC2A4RG	-	NULL	ENSG00000125520		0.682	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A4RG	HGNC	protein_coding	OTTHUMT00000080202.1	-	0	27	0	A	NM_020062	Nonsense_Mutation	62374233	1	tier1	-	no_errors	ENST00000266077	ensembl	human	known	74_37	nonsense	18.60	35	8	SNP	1.000	T	T	62374233	A	T	62374233	5	4	116	1	0	0	0	0	0	0	1	0	14592	260	9	5	1084	5	SLC2A4RG	20	62374233	Splice_Site	SNP	A	TCGA-LN-A4A6-01A-11D-A27G-09	3878703	62374233	651287	146	31016											
SYNJ1	8867	genome.wustl.edu	37	chr21	34038867	34038867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagttctacagcccagaGcttctgatttgttgtgctac	8	14	9	10	0	2	3	0	2	2	1	2	3	2	3	1	0	5	4	1	0	3	6			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr21:34038867G>A	ENST00000322229.7	-	15	1827	c.1828C>T	c.(1828-1830)Ctc>Ttc	p.L610F	SYNJ1_ENST00000433931.2_Missense_Mutation_p.L649F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L605F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.L610F|SYNJ1_ENST00000382499.2_Missense_Mutation_p.L649F			O43426	SYNJ1_HUMAN	synaptojanin 1	610	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACAGCCCAGAGCTTCTGATTT	0.348																																																	0													104	103	104					21																	34038867		2203	4300	6503	SO:0001583	missense	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1828C>T	21.37:g.34038867G>A	ENSP00000322234:p.Leu610Phe		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.L649F	ENST00000322229.7	37	c.1945	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369708	0.82573	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.86	4.79	0.61399	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	N	0.17764	0.52	0.80722	D	1	D;D;D;D;D	0.71674	0.984;0.986;0.996;0.983;0.998	D;P;D;D;P	0.67725	0.912;0.895;0.953;0.932;0.897	T	0.24799	-1.0150	10	0.54805	T	0.06	.	15.864	0.79047	0.0752:0.0:0.9248:0.0	.	605;649;610;610;610	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	F	605;610;649;649;610;605	ENSP00000371931:L605F;ENSP00000349903:L610F;ENSP00000371939:L649F;ENSP00000409667:L649F;ENSP00000322234:L610F;ENSP00000413649:L605F	ENSP00000322234:L610F	L	-	1	0	SYNJ1	32960738	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.626000	0.74253	2.778000	0.95560	0.655000	0.94253	CTC	SYNJ1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000159082		0.348	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		-	0	32	0	G			34038867	-1	tier1	-	no_errors	ENST00000433931	ensembl	human	known	74_37	missense	53.33	14	16	SNP	1.000	A	A	34038867	G	A	34038867	3	1	116	1	0	0	0	0	1	0	0	0	15499	971	34	3	2986	3	SYNJ1	21	34038867	Missense_Mutation	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09		34038867	14091028	147	31017											
CRKL	1399	genome.wustl.edu	37	chr22	21272499	21272499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttacaagatccactacCtggacaccaccaccctcatc	12	9	4	16	0	1	1	1	0	0	1	3	2	2	2	5	1	2	1	5	1	3	3			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr22:21272499C>T	ENST00000354336.3	+	1	786	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	93	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|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;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GATCCACTACCTGGACACCAC	0.587																																					Pancreas(85;3 1441 23889 42519 42763)												0													44	43	43					22																	21272499		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"SH2 domain containing"	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.277C>T	22.37:g.21272499C>T			A8KA44|D3DX35	Silent	SNP	pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.L93	ENST00000354336.3	37	c.277	CCDS13785.1	22																																																																																			CRKL	-	smart_SH2,pfscan_SH2	ENSG00000099942		0.587	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRKL	HGNC	protein_coding	OTTHUMT00000320158.1	-	0	14	0	C	NM_005207		21272499	1	tier1	-	no_errors	ENST00000354336	ensembl	human	known	74_37	silent	33.33	10	5	SNP	1.000	T	T	21272499	C	T	21272499	2	4	116	1	0	0	0	0	0	0	0	1	3892	680	24	3		3	CRKL	22	21272499	Silent	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09		21272499	30032067	148	31018											
SLC35E4	339665	genome.wustl.edu	37	chr22	31042745	31042745	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgggcctgcatcctgctCagctgcctcctgtctgttct	2	14	9	16	0	4	0	1	0	3	0	6	0	6	0	4	1	4	4	4	1	0	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr22:31042745C>T	ENST00000343605.4	+	2	1579	c.780C>T	c.(778-780)ctC>ctT	p.L260L	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	260	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCATCCTGCTCAGCTGCCTCC	0.672																																																	0													58	42	47					22																	31042745		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"Solute carriers"	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.780C>T	22.37:g.31042745C>T			Q567P0	Silent	SNP	pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA	p.L260	ENST00000343605.4	37	c.780	CCDS13882.1	22																																																																																			SLC35E4	-	pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA	ENSG00000100036		0.672	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E4	HGNC	protein_coding	OTTHUMT00000321382.1	-	0	71	0	C	XM_290973		31042745	1	tier1	-	no_errors	ENST00000343605	ensembl	human	known	74_37	silent	28.12	46	18	SNP	1.000	T	T	31042745	C	T	31042745	2	4	116	1	0	0	0	0	0	0	0	1	14632	813	29	3		3	SLC35E4	22	31042745	Silent	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	9770246	31042745	20261821	149	31019											
XPNPEP3	63929	genome.wustl.edu	37	chr22	41277988	41277988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattccaagagcctgatagCattcttgtccttcagagcct	9	12	9	11	0	2	3	1	1	1	2	4	4	4	4	4	1	3	1	4	1	2	5			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr22:41277988C>A	ENST00000357137.4	+	3	480	c.396C>A	c.(394-396)agC>agA	p.S132R	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.S132R|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.S109R|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.S132R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	132					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AGCCTGATAGCATTCTTGTCC	0.463																																					Ovarian(145;306 1841 7037 21878 30110)												0													149	129	136					22																	41277988		2203	4300	6503	SO:0001583	missense	0				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.396C>A	22.37:g.41277988C>A	ENSP00000349658:p.Ser132Arg		B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.S132R	ENST00000357137.4	37	c.396	CCDS14007.1	22	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109764	0.56398	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.7	3.62	0.41486	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	M	0.91038	3.17	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90589	0.4535	10	0.87932	D	0	.	12.4334	0.55586	0.0:0.8636:0.0:0.1364	.	132;132	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	R	132;132;132;109	ENSP00000443682:S132R;ENSP00000397110:S132R;ENSP00000349658:S132R;ENSP00000441942:S109R	ENSP00000349658:S132R	S	+	3	2	XPNPEP3	39607934	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	1.922000	0.40045	0.770000	0.33336	-0.261000	0.10672	AGC	XPNPEP3	-	pfam_Aminopep_P_N	ENSG00000196236		0.463	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP3	HGNC	protein_coding	OTTHUMT00000322201.2	-	0	42	0	C	NM_022098		41277988	1	tier1	-	no_errors	ENST00000357137	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	A	A	41277988	C	A	41277988	3	1	116	1	0	0	0	0	1	0	0	0	17493	709	25	3	406	3	XPNPEP3	22	41277988	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	10235243	41277988	10026578	150	31020											
DHRSX	207063	genome.wustl.edu	37	chrX	2184836	2184836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtaatgggtggcagaggagaCggtgaccaccctcgcactgt	9	7	15	10	2	0	3	0	1	0	2	1	4	0	3	2	4	0	3	2	4	1	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:2184836C>T	ENST00000334651.5	-	5	593	c.541G>A	c.(541-543)Gtc>Atc	p.V181I	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	181							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCAGAGGAGACGGTGACCACC	0.547																																																	0									ILE/VAL	1,4405		0,1,2202	390	344	360		541	2.1	0.4	X	dbSNP_134	360	0,8592		0,0,4296	no	missense	DHRSX	NM_145177.2	29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	181/331	2184836	1,12997	2203	4296	6499	SO:0001583	missense	0			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.541G>A	X.37:g.2184836C>T	ENSP00000334113:p.Val181Ile		Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.V181I	ENST00000334651.5	37	c.541	CCDS35195.1	X	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629329	0.28978	2.27E-4	0.0	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	D;D;D	0.87571	-2.27;-2.27;-2.27	2.11	2.11	0.27256	NAD(P)-binding domain (1);	0.070917	0.56097	U	0.000026	D	0.89347	0.6689	L	0.59912	1.85	0.19775	N	0.999956	D	0.76494	0.999	P	0.62491	0.903	T	0.81070	-0.1099	10	0.72032	D	0.01	.	9.4639	0.38800	0.0:0.7846:0.2154:0.0	.	181	Q8N5I4	DHRSX_HUMAN	I	181;158;114	ENSP00000334113:V181I;ENSP00000391778:V158I;ENSP00000402741:V114I	ENSP00000334113:V181I	V	-	1	0	DHRSX	2194836	1.000000	0.71417	0.425000	0.26659	0.436000	0.31835	1.771000	0.38542	0.856000	0.35383	0.272000	0.19324	GTC	DHRSX	-	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase	ENSG00000169084		0.547	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRSX	HGNC	protein_coding	OTTHUMT00000055617.3	-	0	145	0	C	NM_145177		2184836	-1	tier1	-	no_errors	ENST00000334651	ensembl	human	known	74_37	missense	15.92	131	25	SNP	1.000	T	T	2184836	C	T	2184836	3	4	116	1	0	0	0	0	1	0	0	0	4513	536	19	1	463	1	DHRSX	23	2184836	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09		2184836	153085724	151	31021											
MXRA5	25878	genome.wustl.edu	37	chrX	3228543	3228543	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgggtgtcggggtcccCgcggcagagcagttgaggct	5	7	19	10	3	0	2	0	1	0	1	2	2	1	2	2	6	1	5	2	6	0	1			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:3228543C>T	ENST00000217939.6	-	7	7855	c.7701G>A	c.(7699-7701)gcG>gcA	p.A2567A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2567	Ig-like C2-type 10.					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)				TCGGGGTCCCCGCGGCAGAGC	0.632																																																	0																																										SO:0001819	synonymous_variant	0			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.7701G>A	X.37:g.3228543C>T			Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A2567	ENST00000217939.6	37	c.7701	CCDS14124.1	X																																																																																			MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000101825		0.632	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2		0	22	0	C	NM_015419		3228543	-1			no_errors	ENST00000217939	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.000	T	T	3228543	C	T	3228543	2	4	116	1	0	0	0	0	0	0	0	1	10041	639	23	1		1	MXRA5	23	3228543	Silent	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	1043707	3228543	152042017	152	31022											
GAGE2A	729408	genome.wustl.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																								rs372553636		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278																0										10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	0					Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup		A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	pfam_GAGE	p.9in_frame_insY	ENST00000404720.2	37	c.24_25	CCDS43941.1	X																																																																																			GAGE2D	-	pfam_GAGE	ENSG00000240257		0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAGE2D	HGNC	protein_coding	OTTHUMT00000144212.1		0	22	0	0	NM_001098407		49208296	1			no_errors	ENST00000404720	ensembl	human	known	74_37	in_frame_ins	17.78	37	8	INS	0.002:0.002	TAT	TAT	49208296	-	TAT	49208295	7	5	116	1	0	1	1	0	0	0	0	0	6214	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-LN-A4A6-01A-11D-A27G-09	45979752	49208295	106062265	153	31023											
SYTL4	94121	genome.wustl.edu	37	chrX	99941718	99941718	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattaatagtgtcccgcttGatgctggtttttctttttcc	5	19	9	8	1	1	1	0	1	1	0	3	2	3	2	2	2	1	3	2	2	2	7			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:99941718G>T	ENST00000372989.1	-	14	1576	c.1245C>A	c.(1243-1245)atC>atA	p.I415I	SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000276141.6_Silent_p.I415I|SYTL4_ENST00000454200.2_Silent_p.I417I|SYTL4_ENST00000455616.1_Silent_p.I415I|SYTL4_ENST00000263033.5_Silent_p.I415I	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	415	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)"	TGTCCCGCTTGATGCTGGTTT	0.443																																																	0													206	155	173					X																	99941718		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1245C>A	X.37:g.99941718G>T			Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin	p.I417	ENST00000372989.1	37	c.1251	CCDS14472.1	X																																																																																			SYTL4	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000102362		0.443	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1	-	0	51	0	G	NM_080737		99941718	-1	tier1	-	no_errors	ENST00000454200	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	T	T	99941718	G	T	99941718	2	4	116	1	0	0	0	0	0	0	0	1	15532	1280	45	3		3	SYTL4	23	99941718	Silent	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	50733423	99941718	55328842	154	31024											
MAGEC3	139081	genome.wustl.edu	37	chrX	140983065	140983065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgtcagccctggtcagCcttggcagggttcgcggatg	4	10	15	12	2	2	0	2	0	0	0	3	1	2	1	2	4	3	3	2	4	0	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:140983065C>T	ENST00000298296.1	+	5	920	c.920C>T	c.(919-921)gCc>gTc	p.A307V	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000448920.1_Missense_Mutation_p.A59V|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	307	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.		A -> T (in dbSNP:rs176024).							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)					CCCTGGTCAGCCTTGGCAGGG	0.607																																																	0													91	89	90					X																	140983065		2203	4300	6503	SO:0001583	missense	0			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.920C>T	X.37:g.140983065C>T	ENSP00000298296:p.Ala307Val		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.A307V	ENST00000298296.1	37	c.920	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.806878	0.00606	.	.	ENSG00000165509	ENST00000298296;ENST00000448920	T;T	0.41400	4.0;1.0	1.02	-2.04	0.07343	.	.	.	.	.	T	0.17916	0.0430	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.12528	-1.0544	9	0.72032	D	0.01	.	0.3289	0.00315	0.1932:0.2623:0.1924:0.3521	.	307	Q8TD91	MAGC3_HUMAN	V	307;59	ENSP00000298296:A307V;ENSP00000395092:A59V	ENSP00000298296:A307V	A	+	2	0	MAGEC3	140810731	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.829000	0.04415	-3.354000	0.00180	-2.184000	0.00315	GCC	MAGEC3	-	NULL	ENSG00000165509		0.607	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0	25	0	C	NM_138702		140983065	1	tier1	-	no_errors	ENST00000298296	ensembl	human	known	74_37	missense	72.22	5	13	SNP	0.000	T	T	140983065	C	T	140983065	3	4	116	1	0	0	0	0	1	0	0	0	9220	739	26	3	938	3	MAGEC3	23	140983065	Missense_Mutation	SNP	C	TCGA-LN-A4A6-01A-11D-A27G-09	41041347	140983065	14287495	155	31025											
MAGEC3	139081	genome.wustl.edu	37	chrX	140985273	140985273	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtgttgagtgcaatagggGtgtgtgctgggagggagcac	9	9	19	4	0	0	1	0	1	0	0	0	3	0	3	0	4	3	4	0	4	3	2			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:140985273G>C	ENST00000298296.1	+	7	1728		c.e7+1		MAGEC3_ENST00000544766.1_Missense_Mutation_p.V279L|MAGEC3_ENST00000409007.1_Missense_Mutation_p.V279L|MAGEC3_ENST00000443323.2_Missense_Mutation_p.V199L|MAGEC3_ENST00000536088.1_Missense_Mutation_p.V279L	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAATAGGGGTGTGTGCTGG	0.507																																																	0													97	94	95					X																	140985273		2203	4300	6503	SO:0001630	splice_region_variant	0			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1728+1G>C	X.37:g.140985273G>C			Q3SYA7|Q5JZ43|Q9BZ80	Splice_Site	SNP	-	e7+1	ENST00000298296.1	37	c.1728+1	CCDS14676.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|g	3.398|3.398	-0.122885|-0.122885	0.06795|0.06795	.|.	.|.	ENSG00000165509|ENSG00000165509	ENST00000298296|ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	.|T;T;T;T	.|0.03663	.|3.85;3.85;3.85;3.85	1.25|1.25	1.25|1.25	0.21368|0.21368	.|.	.|.	.|.	.|.	.|.	.|T	.|0.07773	.|0.0195	L|L	0.50847|0.50847	1.595|1.595	0.09310|0.09310	N|N	1|1	.|P	.|0.45240	.|0.854	.|P	.|0.54499	.|0.754	.|T	.|0.28586	.|-1.0039	.|8	.|.	.|.	.|.	.|.	5.4273|5.4273	0.16433|0.16433	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|279	.|Q3SYA7	.|.	.|L	-1|279;199;279;279	.|ENSP00000441107:V279L;ENSP00000438254:V199L;ENSP00000440444:V279L;ENSP00000386566:V279L	.|.	.|V	+|+	.|1	.|0	MAGEC3|MAGEC3	140812939|140812939	0.000000|0.000000	0.05858|0.05858	0.028000|0.028000	0.17463|0.17463	0.070000|0.070000	0.16714|0.16714	0.049000|0.049000	0.14099|0.14099	0.898000|0.898000	0.36418|0.36418	0.284000|0.284000	0.19432|0.19432	.|GTG	MAGEC3	-	-	ENSG00000165509		0.507	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0	27	0	G	NM_138702	Intron	140985273	1	tier1	-	no_errors	ENST00000298296	ensembl	human	known	74_37	splice_site	64.29	10	18	SNP	0.027	C	C	140985273	G	C	140985273	5	2	116	1	0	0	0	0	0	0	1	0	9220	1275	44	5	1984	5	MAGEC3	23	140985273	Splice_Site	SNP	G	TCGA-LN-A4A6-01A-11D-A27G-09	2208	140985273	14285287	156	31026											
BAI2	576	genome.wustl.edu	37	chr1	32205214	32205214	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactggacacagctgagacGggctctcgctgaatgctgat	9	9	12	11	2	2	3	1	3	1	1	3	5	2	4	0	2	2	4	0	2	1	0	rs140390564	byFrequency	TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:32205214G>C	ENST00000373658.3	-	15	2531	c.2190C>G	c.(2188-2190)ccC>ccG	p.P730P	BAI2_ENST00000398538.1_Silent_p.P718P|BAI2_ENST00000440175.2_Silent_p.P372P|BAI2_ENST00000398547.1_Silent_p.P663P|BAI2_ENST00000373655.2_Silent_p.P730P|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000257070.4_Silent_p.P730P|BAI2_ENST00000527361.1_Silent_p.P730P|BAI2_ENST00000398556.3_Silent_p.P678P|BAI2_ENST00000398542.1_Silent_p.P663P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	730					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)		CAGCTGAGACGGGCTCTCGCT	0.622																																																	0													31	32	32					1																	32205214		2176	4257	6433	SO:0001819	synonymous_variant	0			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.2190C>G	1.37:g.32205214G>C			B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.P730	ENST00000373658.3	37	c.2190	CCDS346.2	1																																																																																			BAI2	-	pfam_DUF3497	ENSG00000121753		0.622	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0	39	0	G	NM_001703		32205214	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	silent	41.03	23	16	SNP	0.018	C	C	32205214	G	C	32205214	2	2	117	1	0	0	0	0	0	0	0	1	1300	1103	39	5		5	BAI2	1	32205214	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09		32205214	217045407	1	31027											
ALG6	29929	genome.wustl.edu	37	chr1	63894627	63894629	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcttctattgaaggatgaaCtcctaatgccctctgttgtg																										TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:63894627_63894629delCTC	ENST00000371108.4	+	14	1461_1463	c.1156_1158delCTC	c.(1156-1158)ctcdel	p.L387del	ALG6_ENST00000263440.4_In_Frame_Del_p.L389del|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	387					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						GAAGGATGAACTCCTAATGCCCT	0.31																																																	0																																										SO:0001651	inframe_deletion	0			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.1156_1158delCTC	1.37:g.63894627_63894629delCTC	ENSP00000360149:p.Leu387del		B3KMU2|Q5SXR9|Q9H3I0	In_Frame_Del	DEL	pfam_Glyco_trans_ALG6/ALG8	p.L387in_frame_del	ENST00000371108.4	37	c.1156_1158	CCDS30735.1	1																																																																																			ALG6	-	pfam_Glyco_trans_ALG6/ALG8	ENSG00000088035		0.31	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2		0	8	0	CTC	NM_013339		63894629	1	tier1		no_errors	ENST00000371108	ensembl	human	known	74_37	in_frame_del	33.33	16	8	DEL	0.938:0.946:0.826	-	-	63894629	CTC	-	63894627	7	5	117	1	0	1	0	1	0	0	0	0	522	565	20	0	1206	0	ALG6	1	63894627	In_Frame_Del	DEL	CTC	TCGA-LN-A4A8-01A-32D-A27G-09	31689413	63894627	185355994	2	31028											
ANKRD13C	81573	genome.wustl.edu	37	chr1	70819708	70819708	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgtgcggatgagagaggaGagtctcctcacatccccctt	8	9	12	12	2	2	3	1	1	1	2	4	6	3	4	3	2	2	0	3	2	0	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:70819708G>C	ENST00000370944.4	-	1	697	c.384C>G	c.(382-384)ctC>ctG	p.L128L	HHLA3_ENST00000432224.1_5'Flank|HHLA3_ENST00000531950.1_5'Flank|HHLA3_ENST00000359875.5_5'Flank|HHLA3_ENST00000370940.5_5'Flank|HHLA3_ENST00000361764.4_5'Flank|ANKRD13C_ENST00000262346.6_Silent_p.L128L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	128					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TGAGAGAGGAGAGTCTCCTCA	0.617																																																	0													60	56	58					1																	70819708		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.384C>G	1.37:g.70819708G>C			B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L128	ENST00000370944.4	37	c.384	CCDS648.2	1																																																																																			ANKRD13C	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000118454		0.617	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13C	HGNC	protein_coding	OTTHUMT00000025903.1	-	0	53	0	G	NM_030816		70819708	-1	tier1	-	no_errors	ENST00000370944	ensembl	human	known	74_37	silent	18.64	48	11	SNP	0.986	C	C	70819708	G	C	70819708	2	2	117	1	0	0	0	0	0	0	0	1	643	929	33	5		5	ANKRD13C	1	70819708	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	6925081	70819708	178430913	3	31029											
ZNF644	84146	genome.wustl.edu	37	chr1	91406192	91406192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggaaattcccgttactGtattgacacaatcatctttc	11	14	6	10	1	2	2	1	2	1	0	4	3	3	3	1	1	1	2	1	1	4	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:91406192G>T	ENST00000370440.1	-	3	936	c.719C>A	c.(718-720)aCa>aAa	p.T240K	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T240K|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	240					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.T240K(1)		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)		TCCCGTTACTGTATTGACACA	0.368																																																	1	Substitution - Missense(1)	lung(1)											170	174	173					1																	91406192		2203	4300	6503	SO:0001583	missense	0			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.719C>A	1.37:g.91406192G>T	ENSP00000359469:p.Thr240Lys		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T240K	ENST00000370440.1	37	c.719	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331023	0.41297	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00596	6.32;6.32	6.03	6.03	0.97812	.	0.471757	0.23702	N	0.045415	T	0.00328	0.0010	N	0.19112	0.55	0.34492	D	0.705128	B	0.18166	0.026	B	0.18561	0.022	T	0.70454	-0.4867	10	0.35671	T	0.21	-0.0974	20.5568	0.99304	0.0:0.0:1.0:0.0	.	240	Q9H582	ZN644_HUMAN	K	240	ENSP00000359469:T240K;ENSP00000337008:T240K	ENSP00000337008:T240K	T	-	2	0	ZNF644	91178780	0.988000	0.35896	0.924000	0.36721	0.958000	0.62258	4.061000	0.57485	2.861000	0.98227	0.655000	0.94253	ACA	ZNF644	-	NULL	ENSG00000122482		0.368	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2		0	25	0	G	NM_032186		91406192	-1			no_errors	ENST00000337393	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.979	T	T	91406192	G	T	91406192	3	4	117	1	0	0	0	0	1	0	0	0	18108	1377	48	3	3280	3	ZNF644	1	91406192	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	20586484	91406192	157844429	4	31030											
RPAP2	79871	genome.wustl.edu	37	chr1	92846387	92846387	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaaaaaatgaagaccttGaaagtctaaccatcatattt	18	12	4	7	0	3	3	1	2	2	1	3	3	3	3	2	0	1	0	2	0	7	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:92846387G>T	ENST00000610020.1	+	12	1904	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	599					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)		TGAAGACCTTGAAAGTCTAAC	0.363																																																	0													116	115	115					1																	92846387		2203	4300	6503	SO:0001587	stop_gained	0			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.1795G>T	1.37:g.92846387G>T	ENSP00000476948:p.Glu599*		C9JKB5|Q49AS7|Q9H8Y2	Nonsense_Mutation	SNP	pfam_DUF408	p.E599*	ENST00000610020.1	37	c.1795	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.344524	0.97489	.	.	ENSG00000122484	ENST00000370343	.	.	.	5.74	5.74	0.90152	.	0.176456	0.49916	D	0.000140	.	.	.	.	.	.	0.50632	D	0.999881	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.8896	16.857	0.86009	0.0:0.0:1.0:0.0	.	.	.	.	X	599	.	ENSP00000359368:E599X	E	+	1	0	RPAP2	92618975	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.859000	0.55987	2.712000	0.92718	0.650000	0.86243	GAA	RPAP2	-	NULL	ENSG00000122484		0.363	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	-	0	56	0	G	NM_024813		92846387	1	tier1	-	no_errors	ENST00000610020	ensembl	human	known	74_37	nonsense	45.61	31	26	SNP	1.000	T	T	92846387	G	T	92846387	4	4	117	1	0	0	0	0	0	1	0	0	13587	1291	45	3	1841	3	RPAP2	1	92846387	Nonsense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	1440195	92846387	156404234	5	31031											
APH1A	51107	genome.wustl.edu	37	chr1	150238561	150238561	+	Frame_Shift_Del	DEL	T	T	-																															gtgggatgcgcagggcagaaTacaccatcacccgactgtcc																										TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:150238561delT	ENST00000369109.3	-	7	955	c.767delA	c.(766-768)tatfs	p.Y256fs	APH1A_ENST00000414276.2_Frame_Shift_Del_p.Y186fs|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000360244.4_3'UTR|APH1A_ENST00000461320.1_5'Flank	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	256					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)			CAGGGCAGAATACACCATCAC	0.642																																																	0													27	30	29					1																	150238561		1989	4140	6129	SO:0001589	frameshift_variant	0			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.767delA	1.37:g.150238561delT	ENSP00000358105:p.Tyr256fs		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Frame_Shift_Del	DEL	pfam_Aph-1	p.Y256fs	ENST00000369109.3	37	c.767	CCDS41390.1	1																																																																																			APH1A	-	NULL	ENSG00000117362		0.642	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1		0	29	0	T	NM_016022		150238561	-1	tier1		no_errors	ENST00000369109	ensembl	human	known	74_37	frame_shift_del	34.78	30	16	DEL	1.000	-	-	150238561	T	-	150238561	7	5	117	1	0	1	0	1	0	0	0	0	771	1406	49	0	34	0	APH1A	1	150238561	Frame_Shift_Del	DEL	T	TCGA-LN-A4A8-01A-32D-A27G-09	57392174	150238561	99012060	6	31032											
HCN3	57657	genome.wustl.edu	37	chr1	155247568	155247568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtcaacaagttctcccttCgggtgttcggcagccacaaa	9	9	10	13	3	2	0	1	0	1	0	5	0	2	0	2	3	2	3	2	3	3	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:155247568C>T	ENST00000368358.3	+	1	195	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	HCN3_ENST00000496230.1_3'UTR|CLK2_ENST00000536801.1_5'Flank	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	63	Involved in subunit assembly. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTTCTCCCTTCGGGTGTTCGG	0.622																																																	0													23	24	23					1																	155247568		2202	4298	6500	SO:0001583	missense	0			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.187C>T	1.37:g.155247568C>T	ENSP00000357342:p.Arg63Trp		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R63W	ENST00000368358.3	37	c.187	CCDS1108.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.673480	0.96754	.	.	ENSG00000143630	ENST00000368358	T	0.80033	-1.33	5.2	5.2	0.72013	Ion transport N-terminal (1);	0.000000	0.43579	D	0.000551	D	0.88537	0.6463	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89767	0.3951	10	0.87932	D	0	.	16.583	0.84719	0.0:1.0:0.0:0.0	.	63	Q9P1Z3	HCN3_HUMAN	W	63	ENSP00000357342:R63W	ENSP00000357342:R63W	R	+	1	2	HCN3	153514192	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.364000	0.44187	2.588000	0.87417	0.491000	0.48974	CGG	HCN3	-	pfam_Ion_trans_N	ENSG00000143630		0.622	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1	-	0	70	0	C	NM_020897		155247568	1	tier1	-	no_errors	ENST00000368358	ensembl	human	known	74_37	missense	15.49	60	11	SNP	1.000	T	T	155247568	C	T	155247568	3	4	117	1	0	0	0	0	1	0	0	0	7025	875	31	1	189	1	HCN3	1	155247568	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	5009007	155247568	94003053	7	31033											
C1orf182	128229	genome.wustl.edu	37	chr1	156314405	156314405	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagctaatgctgtgcctctCtgtagagcaaaaccctcccc	10	9	8	14	0	1	1	0	0	1	1	3	2	2	1	4	0	5	4	4	0	5	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:156314405C>T	ENST00000368255.3	+	3	429	c.69C>T	c.(67-69)ctC>ctT	p.L23L	TSACC_ENST00000368254.1_Silent_p.L23L|TSACC_ENST00000368252.1_Silent_p.L23L|TSACC_ENST00000368253.2_Silent_p.L23L|TSACC_ENST00000368251.1_Silent_p.L23L|TSACC_ENST00000470342.1_Silent_p.L23L|TSACC_ENST00000481479.1_Silent_p.L23L|TSACC_ENST00000466306.1_Silent_p.L23L	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	23						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										CTGTGCCTCTCTGTAGAGCAA	0.463																																																	0													103	103	103					1																	156314405		2203	4300	6503	SO:0001819	synonymous_variant	0			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.69C>T	1.37:g.156314405C>T			D3DVB9	Silent	SNP	NULL	p.L23	ENST00000368255.3	37	c.69	CCDS1141.1	1																																																																																			TSACC	-	NULL	ENSG00000163467		0.463	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSACC	HGNC	protein_coding	OTTHUMT00000060594.1	-	0	46	0	C	NM_144627		156314405	1	tier1	-	no_errors	ENST00000368251	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.997	T	T	156314405	C	T	156314405	2	4	117	1	0	0	0	0	0	0	0	1	2025	900	32	3		3	C1orf182	1	156314405	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	1066837	156314405	92936216	8	31034											
TNN	63923	genome.wustl.edu	37	chr1	175096214	175096214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ttaccagttcccagatggcaCagttaaggtacggggattcc	10	10	11	10	1	0	1	0	0	0	1	2	2	2	2	3	4	2	4	3	4	3	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:175096214C>T	ENST00000239462.4	+	13	3151	c.3038C>T	c.(3037-3039)aCa>aTa	p.T1013I		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1013	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCAGATGGCACAGTTAAGGTA	0.532																																																	0													184	171	175					1																	175096214		2203	4300	6503	SO:0001583	missense	0			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.3038C>T	1.37:g.175096214C>T	ENSP00000239462:p.Thr1013Ile		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.T1013I	ENST00000239462.4	37	c.3038	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	5.616	0.298304	0.10622	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57907	0.37	5.14	4.22	0.49857	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.628567	0.17598	N	0.168501	T	0.51787	0.1695	M	0.61703	1.905	0.20638	N	0.999875	B	0.21520	0.057	B	0.27715	0.082	T	0.49753	-0.8906	10	0.51188	T	0.08	.	11.9798	0.53113	0.0:0.9168:0.0:0.0832	.	1013	Q9UQP3	TENN_HUMAN	I	1013;836	ENSP00000239462:T1013I	ENSP00000239462:T1013I	T	+	2	0	TNN	173362837	0.004000	0.15560	0.105000	0.21289	0.019000	0.09904	0.037000	0.13840	1.130000	0.42092	0.563000	0.77884	ACA	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.532	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0	87	0	C	XM_040527		175096214	1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	missense	6.48	101	7	SNP	0.330	T	T	175096214	C	T	175096214	3	4	117	1	0	0	0	0	1	0	0	0	16370	478	17	3	3084	3	TNN	1	175096214	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	18781809	175096214	74154407	9	31035											
CACNA1E	777	genome.wustl.edu	37	chr1	181767730	181767730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctccgagccctacttggcCctgcacgaagactcccacgc	8	7	8	18	3	1	1	0	0	1	1	3	3	2	1	4	1	3	1	4	1	2	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:181767730C>T	ENST00000367573.2	+	48	6702	c.6702C>T	c.(6700-6702)gcC>gcT	p.A2234A	CACNA1E_ENST00000357570.5_Silent_p.A2185A|CACNA1E_ENST00000358338.5_Silent_p.A2123A|CACNA1E_ENST00000367567.4_Silent_p.A1798A|CACNA1E_ENST00000367570.1_Silent_p.A2191A|CACNA1E_ENST00000526775.1_Silent_p.A2172A|CACNA1E_ENST00000360108.3_Silent_p.A2215A	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2234					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						CCTACTTGGCCCTGCACGAAG	0.607																																																	0													42	48	46					1																	181767730		2141	4260	6401	SO:0001819	synonymous_variant	0			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.6702C>T	1.37:g.181767730C>T			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.A2234	ENST00000367573.2	37	c.6702	CCDS55664.1	1																																																																																			CACNA1E	-	NULL	ENSG00000198216		0.607	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	55	0	C	NM_000721		181767730	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.991	T	T	181767730	C	T	181767730	2	4	117	1	0	0	0	0	0	0	0	1	2549	610	22	3		3	CACNA1E	1	181767730	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	6671516	181767730	67482891	10	31036											
HMCN1	83872	genome.wustl.edu	37	chr1	185985332	185985332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatgcgtggctaccagtgtgGcaggagaaaaggaaatcaaa	15	7	13	6	1	1	1	1	0	0	1	1	3	1	2	1	4	2	2	1	4	6	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:185985332G>T	ENST00000271588.4	+	32	5381	c.5152G>T	c.(5152-5154)Gca>Tca	p.A1718S	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1718S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1718	Ig-like C2-type 14.				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						TACCAGTGTGGCAGGAGAAAA	0.418																																																	0													100	93	96					1																	185985332		2203	4300	6503	SO:0001583	missense	0			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.5152G>T	1.37:g.185985332G>T	ENSP00000271588:p.Ala1718Ser		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.A1718S	ENST00000271588.4	37	c.5152	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.414441	0.96092	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68331	-0.32;-0.32	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83161	0.5194	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78853	-0.2040	10	0.28530	T	0.3	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1718	Q96RW7	HMCN1_HUMAN	S	1718	ENSP00000271588:A1718S;ENSP00000356462:A1718S	ENSP00000271588:A1718S	A	+	1	0	HMCN1	184251955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.041000	0.93788	2.941000	0.99782	0.655000	0.94253	GCA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	59	0	G	NM_031935		185985332	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	185985332	G	T	185985332	3	4	117	1	0	0	0	0	1	0	0	0	7247	1203	42	3	5278	3	HMCN1	1	185985332	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	4217602	185985332	63265289	11	31037											
ATP2B4	493	genome.wustl.edu	37	chr1	203669435	203669435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accatgtcaagaagtccctgGacaaagaccccatgttgctc	12	8	8	13	0	1	2	1	0	0	2	3	3	2	3	4	1	1	2	4	1	3	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:203669435G>A	ENST00000357681.5	+	5	1874	c.751G>A	c.(751-753)Gac>Aac	p.D251N	ATP2B4_ENST00000341360.2_Missense_Mutation_p.D251N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.D251N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D251N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D251N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	251					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)			GAAGTCCCTGGACAAAGACCC	0.522																																																	0													103	96	99					1																	203669435		2203	4300	6503	SO:0001583	missense	0			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.751G>A	1.37:g.203669435G>A	ENSP00000350310:p.Asp251Asn		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.D251N	ENST00000357681.5	37	c.751	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255094	0.59321	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	4.9	4.9	0.64082	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.501430	0.18331	N	0.144500	D	0.90452	0.7010	L	0.58669	1.825	0.58432	D	0.999999	B;B;P	0.36837	0.379;0.05;0.571	B;B;B	0.40444	0.329;0.093;0.213	D	0.90270	0.4307	10	0.46703	T	0.11	-12.5866	18.036	0.89302	0.0:0.0:1.0:0.0	.	251;251;251	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	N	251	ENSP00000350310:D251N;ENSP00000356187:D251N;ENSP00000356188:D251N;ENSP00000375816:D251N;ENSP00000340930:D251N	ENSP00000340930:D251N	D	+	1	0	ATP2B4	201936058	1.000000	0.71417	0.482000	0.27366	0.390000	0.30446	6.618000	0.74214	2.427000	0.82271	0.561000	0.74099	GAC	ATP2B4	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000058668		0.522	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	-	0	53	0	G	NM_001001396		203669435	1	tier1	-	no_errors	ENST00000357681	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.999	A	A	203669435	G	A	203669435	3	1	117	1	0	0	0	0	1	0	0	0	1143	1174	41	3	765	3	ATP2B4	1	203669435	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	17684103	203669435	45581186	12	31038											
MFSD4	148808	genome.wustl.edu	37	chr1	205554106	205554106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgccctggtactgttcatgaCggatgggttgacggtgagcc	6	10	15	10	3	1	3	1	3	0	0	1	4	1	4	2	4	2	3	2	4	1	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:205554106C>T	ENST00000367147.4	+	5	1055	c.962C>T	c.(961-963)aCg>aTg	p.T321M	MFSD4_ENST00000536357.1_Missense_Mutation_p.T234M|MFSD4_ENST00000539267.1_Missense_Mutation_p.T321M	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	321					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGTTCATGACGGATGGGTTG	0.587											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													93	90	91					1																	205554106		2203	4300	6503	SO:0001583	missense	0			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.962C>T	1.37:g.205554106C>T	ENSP00000356115:p.Thr321Met	2153	B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T321M	ENST00000367147.4	37	c.962	CCDS1455.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288670	0.80914	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	T;T;T	0.80909	0.37;0.37;-1.43	5.87	5.87	0.94306	Major facilitator superfamily domain, general substrate transporter (1);	0.044161	0.85682	D	0.000000	D	0.89924	0.6856	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.991;0.997	D	0.89697	0.3902	10	0.66056	D	0.02	-19.2058	19.1458	0.93467	0.0:1.0:0.0:0.0	.	266;234;321	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	M	321;321;234	ENSP00000356115:T321M;ENSP00000445329:T321M;ENSP00000440183:T234M	ENSP00000356115:T321M	T	+	2	0	MFSD4	203820729	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	4.444000	0.60001	2.941000	0.99782	0.655000	0.94253	ACG	MFSD4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000174514		0.587	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD4	HGNC	protein_coding	OTTHUMT00000090391.1	-	0	79	0	C	NM_181644		205554106	1	tier1	-	no_errors	ENST00000367147	ensembl	human	known	74_37	missense	5.32	89	5	SNP	1.000	T	T	205554106	C	T	205554106	3	4	117	1	0	0	0	0	1	0	0	0	9571	536	19	1	980	1	MFSD4	1	205554106	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	1884671	205554106	43696515	13	31039											
ZNF238	10472	genome.wustl.edu	37	chr1	244217284	244217284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaccagctggacaaaagaGacattgttcatctgaacagc	15	7	10	9	0	2	2	1	1	1	1	2	5	2	4	1	2	3	2	1	2	3	2	rs373838988		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:244217284G>A	ENST00000358704.4	+	2	357	c.208G>A	c.(208-210)Gac>Aac	p.D70N		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	61	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)										GGACAAAAGAGACATTGTTCA	0.493																																																	0								G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	107	94	99		181,208	5	1	1		99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF238	NM_006352.3,NM_205768.2	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	61/523,70/532	244217284	1,13005	2203	4300	6503	SO:0001583	missense	0			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.208G>A	1.37:g.244217284G>A	ENSP00000351539:p.Asp70Asn		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D70N	ENST00000358704.4	37	c.208	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513483	0.64522	0.0	1.16E-4	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.66460	-0.21	4.98	4.98	0.66077	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	L	0.44542	1.39	0.80722	D	1	B;B;B	0.20887	0.049;0.015;0.018	B;B;B	0.19148	0.019;0.013;0.024	T	0.61855	-0.6977	10	0.66056	D	0.02	.	18.2404	0.89966	0.0:0.0:1.0:0.0	.	70;61;70	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	N	70	ENSP00000351539:D70N	ENSP00000351539:D70N	D	+	1	0	ZNF238	242283907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.315000	0.78130	0.655000	0.94253	GAC	ZBTB18	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000179456		0.493	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB18	HGNC	protein_coding	OTTHUMT00000096513.2	-	0	23	0	G	NM_205768		244217284	1	tier1	-	no_errors	ENST00000358704	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	A	A	244217284	G	A	244217284	3	1	117	1	0	0	0	0	1	0	0	0	17838	942	33	3	214	3	ZNF238	1	244217284	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	38663178	244217284	5033337	14	31040											
OR2W5	441932	genome.wustl.edu	37	chr1	247655131	247655131	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagtcagcagcagggcGaaagaaagccttccacacct	14	5	11	11	1	1	2	1	1	0	1	2	4	2	2	3	1	3	2	3	1	3	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr1:247655131G>T	ENST00000522351.1	+	0	762							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCAGCAGGGCGAAAGAAAGCC	0.587																																																	0													135	123	127					1																	247655131		2203	4300	6503			0					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655131G>T			B9EH85	RNA	SNP	-	NULL	ENST00000522351.1	37	NULL		1																																																																																			OR2W5	-	-	ENSG00000203664		0.587	OR2W5-002	KNOWN	basic	processed_transcript	OR2W5	HGNC	pseudogene	OTTHUMT00000375789.1	-	0	77	0	G	NM_001004698		247655131	1	tier1	-	no_errors	ENST00000522351	ensembl	human	known	74_37	rna	28.05	59	23	SNP	0.003	T	T	247655131	G	T	247655131	1	4	117	0	1	0	0	0	0	0	0	0	11073	1045	37	2		2	OR2W5	1	247655131	RNA	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	3437847	247655131	1595490	15	31041											
GREB1	9687	genome.wustl.edu	37	chr2	11696879	11696879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtacctggaagctgagcagCagcttgccgctctagaaggt	9	9	13	10	1	1	2	0	1	1	1	1	3	1	3	2	2	6	6	2	2	4	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:11696879C>A	ENST00000381486.2	+	2	439	c.139C>A	c.(139-141)Cag>Aag	p.Q47K	GREB1_ENST00000263834.5_Missense_Mutation_p.Q47K|GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.Q47K|GREB1_ENST00000381483.2_Missense_Mutation_p.Q47K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	47						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)		AGCTGAGCAGCAGCTTGCCGC	0.493																																					Ovarian(39;850 945 2785 23371 33093)												0													71	63	65					2																	11696879		2203	4300	6503	SO:0001583	missense	0				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.139C>A	2.37:g.11696879C>A	ENSP00000370896:p.Gln47Lys		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.Q47K	ENST00000381486.2	37	c.139	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651769	0.47362	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.17213	3.3;2.29;2.3;3.3	4.71	4.71	0.59529	.	0.431663	0.23908	N	0.043380	T	0.34978	0.0916	L	0.51422	1.61	0.41469	D	0.988098	D;P;D	0.67145	0.981;0.952;0.996	P;P;D	0.72982	0.761;0.474;0.979	T	0.03898	-1.0994	10	0.19590	T	0.45	.	18.0012	0.89198	0.0:1.0:0.0:0.0	.	47;47;47	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	K	47	ENSP00000370896:Q47K;ENSP00000263834:Q47K;ENSP00000370892:Q47K;ENSP00000234142:Q47K	ENSP00000234142:Q47K	Q	+	1	0	GREB1	11614330	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	2.104000	0.41815	2.329000	0.79093	0.655000	0.94253	CAG	GREB1	-	NULL	ENSG00000196208		0.493	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0	89	0	C	NM_014668		11696879	1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	11696879	C	A	11696879	3	1	117	1	0	0	0	0	1	0	0	0	6787	711	25	3	141	3	GREB1	2	11696879	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09		11696879	231502494	16	31042											
DYSF	8291	genome.wustl.edu	37	chr2	71753404	71753404	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgaaagcaacctgctcCggcccacaggcgtagccctg	10	6	10	15	2	0	1	0	1	0	0	1	1	1	1	4	2	4	3	4	2	3	2	rs370775850		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:71753404C>A	ENST00000258104.3	+	12	1385	c.1108C>A	c.(1108-1110)Cgg>Agg	p.R370R	DYSF_ENST00000409366.1_Silent_p.R371R|DYSF_ENST00000394120.2_Silent_p.R371R|DYSF_ENST00000409651.1_Silent_p.R402R|DYSF_ENST00000410041.1_Silent_p.R402R|DYSF_ENST00000413539.2_Silent_p.R401R|DYSF_ENST00000409582.3_Silent_p.R401R|DYSF_ENST00000409744.1_Silent_p.R371R|DYSF_ENST00000409762.1_Silent_p.R401R|DYSF_ENST00000410020.3_Silent_p.R402R|DYSF_ENST00000429174.2_Silent_p.R370R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	370	C2 3. {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						CAACCTGCTCCGGCCCACAGG	0.592																																																	0													143	156	152					2																	71753404		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1108C>A	2.37:g.71753404C>A			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.R401	ENST00000258104.3	37	c.1201	CCDS1918.1	2																																																																																			DYSF	-	pfam_FerIin-domain,superfamily_C2_dom	ENSG00000135636		0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0	35	0	C	NM_003494		71753404	1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	21.88	25	7	SNP	0.816	A	A	71753404	C	A	71753404	2	1	117	1	0	0	0	0	0	0	0	1	4873	643	23	2		2	DYSF	2	71753404	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	60056525	71753404	171445969	17	31043											
DYSF	8291	genome.wustl.edu	37	chr2	71892349	71892349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccagctcctccacctcttCtgccagcagcatagagtcaa	9	9	6	17	0	3	1	1	0	2	1	6	1	6	1	5	0	4	3	5	0	2	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:71892349C>T	ENST00000258104.3	+	46	5392	c.5115C>T	c.(5113-5115)ttC>ttT	p.F1705F	DYSF_ENST00000409366.1_Silent_p.F1727F|DYSF_ENST00000394120.2_Silent_p.F1706F|DYSF_ENST00000409651.1_Silent_p.F1737F|DYSF_ENST00000410041.1_Silent_p.F1723F|DYSF_ENST00000413539.2_Silent_p.F1736F|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Silent_p.F1743F|DYSF_ENST00000409744.1_Silent_p.F1713F|DYSF_ENST00000409762.1_Silent_p.F1722F|DYSF_ENST00000410020.3_Silent_p.F1744F|DYSF_ENST00000429174.2_Silent_p.F1726F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1705					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						TCCACCTCTTCTGCCAGCAGC	0.532																																																	0													102	103	102					2																	71892349		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5115C>T	2.37:g.71892349C>T			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.F1736	ENST00000258104.3	37	c.5208	CCDS1918.1	2																																																																																			DYSF	-	NULL	ENSG00000135636		0.532	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0	28	0	C	NM_003494		71892349	1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	41.18	20	14	SNP	1.000	T	T	71892349	C	T	71892349	2	4	117	1	0	0	0	0	0	0	0	1	4873	912	32	3		3	DYSF	2	71892349	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	138945	71892349	171307024	18	31044											
DNAH6	1768	genome.wustl.edu	37	chr2	84912583	84912583	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactatttccatgttattctGacagaaatggccagtaaata	14	13	6	8	0	1	2	0	1	1	1	2	2	2	2	2	1	0	2	2	1	6	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:84912583G>C	ENST00000237449.6	+	42	7058	c.7050G>C	c.(7048-7050)ctG>ctC	p.L2350L	DNAH6_ENST00000389394.3_Silent_p.L2350L|DNAH6_ENST00000602588.1_Intron|DNAH6_ENST00000398278.2_Intron			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2350					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						ATGTTATTCTGACAGAAATGG	0.303																																																	0													99	86	90					2																	84912583		692	1590	2282	SO:0001819	synonymous_variant	0			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.7050G>C	2.37:g.84912583G>C			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L2350	ENST00000237449.6	37	c.7050	CCDS46348.1	2																																																																																			DNAH6	-	superfamily_P-loop_NTPase	ENSG00000115423		0.303	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0	44	0	G	NM_001370		84912583	1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	silent	12.50	35	5	SNP	1.000	C	C	84912583	G	C	84912583	2	2	117	1	0	0	0	0	0	0	0	1	4619	1277	45	5		5	DNAH6	2	84912583	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	13020234	84912583	158286790	19	31045											
ASTL	431705	genome.wustl.edu	37	chr2	96799172	96799172	+	Frame_Shift_Del	DEL	G	G	-																															cccggcacttacccatacatGgggatgatggaaatgaagtc																										TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:96799172delG	ENST00000342380.2	-	5	446	c.447delC	c.(445-447)cccfs	p.P149fs		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ACCCATACATGGGGATGATGG	0.537																																																	0													91	83	86					2																	96799172		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.447delC	2.37:g.96799172delG	ENSP00000343674:p.Pro149fs			Frame_Shift_Del	DEL	pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	p.M150fs	ENST00000342380.2	37	c.447	CCDS33249.1	2																																																																																			ASTL	-	pfam_Peptidase_M12A,smart_Peptidase_Metallo	ENSG00000188886		0.537	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTL	HGNC	protein_coding	OTTHUMT00000338801.1		0	48	0	G			96799172	-1	tier1		no_errors	ENST00000342380	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.998	-	-	96799172	G	-	96799172	7	5	117	1	0	1	0	1	0	0	0	0	1064	1335	47	0	867	0	ASTL	2	96799172	Frame_Shift_Del	DEL	G	TCGA-LN-A4A8-01A-32D-A27G-09	11886589	96799172	146400201	20	31046											
AFF3	3899	genome.wustl.edu	37	chr2	100210147	100210147	+	Missense_Mutation	SNP	A	A	G	1	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	tgaactccttggatttggggAcgatcctgcttagcccccgc	6	11	11	13	2	0	1	0	1	0	0	2	4	2	3	4	3	3	1	4	3	2	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:100210147A>G	ENST00000409236.2	-	13	2088	c.1976T>C	c.(1975-1977)gTc>gCc	p.V659A	AFF3_ENST00000317233.4_Missense_Mutation_p.V659A|AFF3_ENST00000409579.1_Missense_Mutation_p.V684A|AFF3_ENST00000356421.2_Missense_Mutation_p.V684A			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	659					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						GGATTTGGGGACGATCCTGCT	0.602																																																	0													71	76	74					2																	100210147		2203	4300	6503	SO:0001583	missense	0			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.1976T>C	2.37:g.100210147A>G	ENSP00000387207:p.Val659Ala		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.V684A	ENST00000409236.2	37	c.2051	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240147	0.39598	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.17	4.03	0.46877	.	0.982641	0.08286	N	0.969155	T	0.37404	0.1002	N	0.14661	0.345	0.37358	D	0.911086	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.12837	0.008;0.003;0.001	T	0.47433	-0.9118	10	0.06099	T	0.92	.	3.1267	0.06409	0.6111:0.0:0.3889:0.0	.	812;659;684	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	A	659;684;684;659;659;812;684	ENSP00000317421:V659A;ENSP00000348793:V684A;ENSP00000386834:V684A;ENSP00000387207:V659A	ENSP00000317421:V659A	V	-	2	0	AFF3	99576579	0.000000	0.05858	0.999000	0.59377	0.983000	0.72400	0.147000	0.16202	1.964000	0.57103	0.459000	0.35465	GTC	AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.602	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	-	0	36	0	A	NM_002285		100210147	-1	tier1	-	no_errors	ENST00000356421	ensembl	human	known	74_37	missense	31.43	24	11	SNP	0.993	G	G	100210147	A	G	100210147	3	3	117	1	0	0	0	0	1	0	0	0	358	275	10	4	1748	4	AFF3	2	100210147	Missense_Mutation	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09	3410975	100210147	142989226	21	31047											
PCDP1	200373	genome.wustl.edu	37	chr2	120395988	120395988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaaaagcagtttctccatCacacggtaatgtcatcacca	13	9	5	14	1	4	0	3	0	1	0	5	0	4	0	3	1	1	3	3	1	3	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:120395988C>T	ENST00000413369.3	+	20	2215	c.2128C>T	c.(2128-2130)Cac>Tac	p.H710Y	PCDP1_ENST00000602047.1_Missense_Mutation_p.H424Y	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GTTTCTCCATCACACGGTAAT	0.542																																																	0													94	89	91					2																	120395988		2203	4300	6503	SO:0001583	missense	0																														ENST00000413369.3:c.2128C>T	2.37:g.120395988C>T	ENSP00000393222:p.His710Tyr			Missense_Mutation	SNP	NULL	p.H710Y	ENST00000413369.3	37	c.2128	CCDS33282.2	2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363848	0.82353	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.14893	2.47	5.4	5.4	0.78164	.	0.176285	0.37577	N	0.002032	T	0.31199	0.0789	L	0.42245	1.32	0.80722	D	1	D	0.71674	0.998	P	0.62014	0.897	T	0.00496	-1.1705	10	0.62326	D	0.03	-26.5225	14.5504	0.68061	0.0:1.0:0.0:0.0	.	710	Q4G0U5	PCDP1_HUMAN	Y	424;710	ENSP00000393222:H710Y	ENSP00000295220:H424Y	H	+	1	0	AC069154.2	120112458	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.324000	0.59228	2.805000	0.96524	0.655000	0.94253	CAC	PCDP1	-	NULL	ENSG00000163075		0.542	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCDP1	Uniprot_gn	protein_coding	OTTHUMT00000464236.1		0	54	0	C			120395988	1			no_errors	ENST00000413369	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	120395988	C	T	120395988	3	4	117	1	0	0	0	0	1	0	0	0	11611	826	29	3	1316	3	PCDP1	2	120395988	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	20185841	120395988	122803385	22	31048											
LCT	3938	genome.wustl.edu	37	chr2	136570212	136570212	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaaatcagcagagcctttCaggagctgcttctctgcctc	10	10	9	12	0	3	2	2	0	1	2	5	3	3	3	2	1	5	3	2	1	2	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:136570212C>G	ENST00000264162.2	-	7	2032	c.2022G>C	c.(2020-2022)ctG>ctC	p.L674L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	674	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)	CAGAGCCTTTCAGGAGCTGCT	0.552																																																	0													103	96	98					2																	136570212		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2022G>C	2.37:g.136570212C>G			Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L674	ENST00000264162.2	37	c.2022	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.552	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0	76	0	C	NM_002299		136570212	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	silent	13.56	51	8	SNP	0.126	G	G	136570212	C	G	136570212	2	3	117	1	0	0	0	0	0	0	0	1	8721	813	29	5		5	LCT	2	136570212	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	16174224	136570212	106629161	23	31049											
TTN	7273	genome.wustl.edu	37	chr2	179595754	179595754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtagaaataatcttcaGtattgagactgtatcagtga	13	15	8	5	0	4	3	2	2	2	2	4	4	4	3	0	0	0	3	0	0	5	7			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:179595754G>A	ENST00000591111.1	-	58	16911	c.16687C>T	c.(16687-16689)Ctg>Ttg	p.L5563L	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.L4636L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.L5880L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12380	Ig-like 36.				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)			ATAATCTTCAGTATTGAGACT	0.383																																																	0													141	135	137					2																	179595754		1844	4094	5938	SO:0001819	synonymous_variant	0			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.16687C>T	2.37:g.179595754G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L4636	ENST00000591111.1	37	c.13906		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	71	0	G	NM_133378		179595754	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	35.82	42	24	SNP	0.793	A	A	179595754	G	A	179595754	2	1	117	1	0	0	0	0	0	0	0	1	16784	1020	36	3		3	TTN	2	179595754	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	43025542	179595754	63603619	24	31050											
CXCR2	3579	genome.wustl.edu	37	chr2	218999543	218999543	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatggaagattttaacatgGagagtgacagctttgaagat	16	11	11	3	0	0	5	0	2	0	3	0	7	0	6	0	2	2	1	0	2	4	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:218999543G>T	ENST00000318507.2	+	3	446	c.19G>T	c.(19-21)Gag>Tag	p.E7*		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	7					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TTTTAACATGGAGAGTGACAG	0.403																																																	0													72	70	71					2																	218999543		2203	4300	6503	SO:0001587	stop_gained	0			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.19G>T	2.37:g.218999543G>T	ENSP00000319635:p.Glu7*		Q8IUZ1|Q9P2T6|Q9P2T7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.E7*	ENST00000318507.2	37	c.19	CCDS2408.1	2	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841267	0.71488	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000449014;ENST00000318507;ENST00000454148;ENST00000428565;ENST00000418878	.	.	.	4.54	1.73	0.24493	.	8.431280	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	7.763	0.28963	0.2897:0.0:0.7103:0.0	.	.	.	.	X	7	.	ENSP00000319635:E7X	E	+	1	0	CXCR2	218707788	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.301000	0.19174	0.655000	0.30866	0.456000	0.33151	GAG	CXCR2	-	prints_Chemokine_CXCR2	ENSG00000180871		0.403	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR2	HGNC	protein_coding	OTTHUMT00000256772.2		0	48	0	G	NM_001557		218999543	1			no_errors	ENST00000318507	ensembl	human	known	74_37	nonsense	6.67	42	3	SNP	0.000	T	T	218999543	G	T	218999543	4	4	117	1	0	0	0	0	0	1	0	0	4100	1175	41	3	21	3	CXCR2	2	218999543	Nonsense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	39403789	218999543	24199830	25	31051											
RNF25	64320	genome.wustl.edu	37	chr2	219529070	219529070	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatagctttctgggtttcGcccaacctttgctgatttga	7	15	9	10	1	1	2	0	2	1	0	2	2	1	2	2	1	4	4	2	1	2	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:219529070G>A	ENST00000295704.2	-	10	1430	c.990C>T	c.(988-990)ggC>ggT	p.G330G		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	330					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGGGTTTCGCCCAACCTTT	0.602																																																	0													77	83	81					2																	219529070		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.990C>T	2.37:g.219529070G>A			A8K0D6|Q53HQ5|Q9H874	Silent	SNP	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING	p.G330	ENST00000295704.2	37	c.990	CCDS2420.1	2																																																																																			RNF25	-	NULL	ENSG00000163481		0.602	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF25	HGNC	protein_coding	OTTHUMT00000256721.1	-	0	89	0	G	NM_022453		219529070	-1	tier1	-	no_errors	ENST00000295704	ensembl	human	known	74_37	silent	35.90	50	28	SNP	0.874	A	A	219529070	G	A	219529070	2	1	117	1	0	0	0	0	0	0	0	1	13530	1074	38	1		1	RNF25	2	219529070	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	529527	219529070	23670303	26	31052											
MOGAT1	116255	genome.wustl.edu	37	chr2	223554125	223554125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttcctggctttacttcaTatcttcacgtgctgccactt	5	18	6	12	1	3	0	2	0	1	0	4	0	4	0	2	1	3	3	2	1	2	7	rs147393916	byFrequency	TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:223554125T>C	ENST00000446656.3	+	3	415	c.415T>C	c.(415-417)Tat>Cat	p.Y139H		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	139					diacylglycerol biosynthetic process (GO:0006651)|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)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CTTTACTTCATATCTTCACGT	0.433																																					Ovarian(93;205 1446 2385 11581 25911)												0													191	176	181					2																	223554125		1938	4131	6069	SO:0001583	missense	0			AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"diacylglycerol O-acyltransferase 2 like 1"	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.415T>C	2.37:g.223554125T>C	ENSP00000406674:p.Tyr139His		Q6IEE5	Missense_Mutation	SNP	pfam_DAGAT	p.Y139H	ENST00000446656.3	37	c.415	CCDS46524.1	2	.	.	.	.	.	.	.	.	.	.	T	7.745	0.702183	0.15172	.	.	ENSG00000124003	ENST00000446656	T	0.13196	2.61	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000002	T	0.08088	0.0202	N	0.13352	0.335	0.46222	D	0.998937	B	0.06786	0.001	B	0.13407	0.009	T	0.08932	-1.0698	10	0.05620	T	0.96	-11.6003	15.4877	0.75578	0.0:0.0:0.0:1.0	.	139	Q96PD6	MOGT1_HUMAN	H	139	ENSP00000406674:Y139H	ENSP00000406674:Y139H	Y	+	1	0	MOGAT1	223262369	1.000000	0.71417	0.055000	0.19348	0.251000	0.25915	5.583000	0.67484	2.248000	0.74166	0.533000	0.62120	TAT	MOGAT1	-	pfam_DAGAT	ENSG00000124003		0.433	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT1	HGNC	protein_coding	OTTHUMT00000331010.3		0	24	0	T	NM_058165		223554125	1			no_errors	ENST00000446656	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.991	C	C	223554125	T	C	223554125	3	2	117	1	0	0	0	0	1	0	0	0	9732	1406	49	4	425	4	MOGAT1	2	223554125	Missense_Mutation	SNP	T	TCGA-LN-A4A8-01A-32D-A27G-09	4025055	223554125	19645248	27	31053											
DOCK10	55619	genome.wustl.edu	37	chr2	225658132	225658133	+	Frame_Shift_Ins	INS	-	-	CT																															ttaccctttcttttcagataINSctctgcaatgagagcagcaa																										TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:225658132_225658133insCT	ENST00000258390.7	-	46	5263_5264	c.5196_5197insAG	c.(5194-5199)gagtatfs	p.Y1733fs	DOCK10_ENST00000409592.3_Frame_Shift_Ins_p.Y1727fs	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1733	DHR-2.				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)		CTTTTCAGATACTCTGCAATGA	0.361																																																	0																																										SO:0001589	frameshift_variant	0			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.5195_5196dupAG	2.37:g.225658135_225658136dupCT	ENSP00000258390:p.Tyr1733fs		B3FL70|O75178|Q9NW06|Q9NXI8	Frame_Shift_Ins	INS	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Y1732fs	ENST00000258390.7	37	c.5197_5196	CCDS46528.1	2																																																																																			DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.361	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1		0	28	0	-			225658133	-1	tier1		no_errors	ENST00000258390	ensembl	human	known	74_37	frame_shift_ins	22.22	21	6	INS	1.000:0.909	CT	CT	225658133	-	CT	225658132	7	5	117	1	0	1	1	0	0	0	0	0	4699	391	14	0	1407	0	DOCK10	2	225658132	Frame_Shift_Ins	INS	-	TCGA-LN-A4A8-01A-32D-A27G-09	2104007	225658132	17541241	28	31054											
FARP2	9855	genome.wustl.edu	37	chr2	242407662	242407662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaaggagtttgagctgcaGaaggtctgctacttgcctct	9	12	11	9	0	2	2	0	1	2	1	2	3	2	3	1	2	6	4	1	2	4	4			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr2:242407662G>C	ENST00000264042.3	+	18	2171	c.2001G>C	c.(1999-2001)caG>caC	p.Q667H		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	667	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTGAGCTGCAGAAGGTCTGCT	0.547																																																	0													134	117	123					2																	242407662		2203	4300	6503	SO:0001583	missense	0			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.2001G>C	2.37:g.242407662G>C	ENSP00000264042:p.Gln667His		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.Q667H	ENST00000264042.3	37	c.2001	CCDS33424.1	2	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805748	0.70682	.	.	ENSG00000006607	ENST00000264042	T	0.63744	-0.06	4.96	4.07	0.47477	Dbl homology (DH) domain (5);	0.127771	0.56097	D	0.000035	D	0.82875	0.5132	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86775	0.1975	10	0.87932	D	0	.	13.7172	0.62705	0.0758:0.0:0.9242:0.0	.	667	O94887	FARP2_HUMAN	H	667	ENSP00000264042:Q667H	ENSP00000264042:Q667H	Q	+	3	2	FARP2	242056335	1.000000	0.71417	0.998000	0.56505	0.629000	0.37895	6.085000	0.71343	1.047000	0.40274	0.655000	0.94253	CAG	FARP2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000006607		0.547	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1		0	51	0	G			242407662	1			no_errors	ENST00000264042	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	C	C	242407662	G	C	242407662	3	2	117	1	0	0	0	0	1	0	0	0	5699	933	33	5	2067	5	FARP2	2	242407662	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	16749530	242407662	791711	29	31055											
BRPF1	7862	genome.wustl.edu	37	chr3	9786770	9786770	+	Frame_Shift_Del	DEL	T	T	-																															ataccgtaatgactgcagccTtccccggagcagctcagact																										TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:9786770delT	ENST00000457855.1	+	9	2992	c.2981delT	c.(2980-2982)cttfs	p.L994fs	BRPF1_ENST00000424362.1_Frame_Shift_Del_p.L993fs|BRPF1_ENST00000383829.2_Frame_Shift_Del_p.L1000fs|BRPF1_ENST00000302054.3_Frame_Shift_Del_p.L994fs|BRPF1_ENST00000433861.2_Frame_Shift_Del_p.L899fs			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	994	Required for RUNX1 and RUNX2 transcriptional activation.				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)					GACTGCAGCCTTCCCCGGAGC	0.562																																																	0													100	83	89					3																	9786770		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2981delT	3.37:g.9786770delT	ENSP00000410210:p.Leu994fs		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Frame_Shift_Del	DEL	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.R1002fs	ENST00000457855.1	37	c.2999	CCDS2575.1	3																																																																																			BRPF1	-	NULL	ENSG00000156983		0.562	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1		0	56	0	T	NM_001003694		9786770	1	tier1		no_errors	ENST00000383829	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	1.000	-	-	9786770	T	-	9786770	7	5	117	1	0	1	0	1	0	0	0	0	1524	1609	56	0	3033	0	BRPF1	3	9786770	Frame_Shift_Del	DEL	T	TCGA-LN-A4A8-01A-32D-A27G-09		9786770	188235660	30	31056											
C3orf20	84077	genome.wustl.edu	37	chr3	14803014	14803014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcatttttgggggccGtgttttgaatggatatggcc	7	14	14	6	1	1	1	1	1	0	0	1	3	1	2	2	4	1	2	2	4	3	5	rs199580399	byFrequency	TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:14803014G>A	ENST00000253697.3	+	15	2839	c.2387G>A	c.(2386-2388)cGt>cAt	p.R796H	C3orf20_ENST00000435614.1_Missense_Mutation_p.R674H|C3orf20_ENST00000412910.1_Missense_Mutation_p.R674H	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	796						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						TTTGGGGGCCGTGTTTTGAAT	0.498													G|||	2	0.000399361	0	0.0029	5008	,	,		15652	0		0	False		,,,				2504	0																0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	76	79	78		2021,2021,2387	1.6	0.7	3		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	C3orf20	NM_001184957.1,NM_001184958.1,NM_032137.4	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	674/783,674/783,796/905	14803014	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2387G>A	3.37:g.14803014G>A	ENSP00000253697:p.Arg796His		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.R796H	ENST00000253697.3	37	c.2387	CCDS33706.1	3	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	7.663	0.685297	0.14973	0.0	1.16E-4	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.07908	3.44;3.15;3.15	4.64	1.61	0.23674	.	0.752485	0.11918	N	0.516952	T	0.01695	0.0054	N	0.01874	-0.695	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47433	-0.9118	10	0.15066	T	0.55	-3.44	3.5705	0.07916	0.2895:0.1978:0.5127:0.0	.	674;796	Q8ND61-2;Q8ND61	.;CC020_HUMAN	H	796;674;674	ENSP00000253697:R796H;ENSP00000402933:R674H;ENSP00000396081:R674H	ENSP00000253697:R796H	R	+	2	0	C3orf20	14778018	0.000000	0.05858	0.701000	0.30321	0.919000	0.55068	-0.090000	0.11163	1.044000	0.40200	0.591000	0.81541	CGT	C3orf20	-	NULL	ENSG00000131379		0.498	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1		0	61	0	G	NM_032137		14803014	1			no_errors	ENST00000253697	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.535	A	A	14803014	G	A	14803014	3	1	117	1	0	0	0	0	1	0	0	0	2220	1145	40	1	2437	1	C3orf20	3	14803014	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	5016244	14803014	183219416	31	31057											
APEH	327	genome.wustl.edu	37	chr3	49714115	49714115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccttccggttgggcatccGcttttgcaccaatcgcaggt	5	11	11	14	3	0	0	0	0	0	0	3	0	2	0	4	3	1	5	4	3	1	4			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:49714115G>T	ENST00000296456.5	+	8	1218	c.818G>T	c.(817-819)cGc>cTc	p.R273L	APEH_ENST00000438011.1_Missense_Mutation_p.R273L	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	273					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)		TTGGGCATCCGCTTTTGCACC	0.597																																																	0													142	132	136					3																	49714115		2203	4300	6503	SO:0001583	missense	0			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.818G>T	3.37:g.49714115G>T	ENSP00000296456:p.Arg273Leu		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro	p.R273L	ENST00000296456.5	37	c.818	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996091	0.35226	.	.	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T;T;T	0.39787	1.18;1.18;1.06;1.18;1.18	5.62	5.62	0.85841	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.054049	0.85682	D	0.000000	T	0.35038	0.0918	L	0.46157	1.445	0.43489	D	0.995721	B;B	0.27498	0.18;0.085	B;B	0.20955	0.032;0.032	T	0.08827	-1.0703	10	0.27785	T	0.31	-34.4157	12.9303	0.58282	0.0738:0.0:0.9262:0.0	.	273;273	C9JIF9;P13798	.;ACPH_HUMAN	L	273;172;198;273;224	ENSP00000296456:R273L;ENSP00000414369:R172L;ENSP00000402365:R198L;ENSP00000415862:R273L;ENSP00000410366:R224L	ENSP00000296456:R273L	R	+	2	0	APEH	49689119	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.754000	0.68743	2.665000	0.90641	0.650000	0.86243	CGC	APEH	-	NULL	ENSG00000164062		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEH	HGNC	protein_coding	OTTHUMT00000346415.2	-	0	183	0	G			49714115	1	tier1	-	no_errors	ENST00000296456	ensembl	human	known	74_37	missense	55.43	41	51	SNP	1.000	T	T	49714115	G	T	49714115	3	4	117	1	0	0	0	0	1	0	0	0	768	1087	38	2	848	2	APEH	3	49714115	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	34911101	49714115	148308315	32	31058											
FAM116A	201627	genome.wustl.edu	37	chr3	57619036	57619036	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttccaaaaaatagcgtcGaagaataacactttgagcct	16	9	7	9	2	0	2	0	1	0	1	2	3	1	2	2	0	3	1	2	0	7	4			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:57619036G>A	ENST00000311128.5	-	15	1379	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	437					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)										AAATAGCGTCGAAGAATAACA	0.303																																																	0													83	86	85					3																	57619036		2203	4298	6501	SO:0001587	stop_gained	0			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.1309C>T	3.37:g.57619036G>A	ENSP00000311401:p.Arg437*		Q7Z5T4|Q8N235|Q8TEG8	Nonsense_Mutation	SNP	pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom	p.R437*	ENST00000311128.5	37	c.1309	CCDS33773.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.565940|5.565940	0.96540|0.96540	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000471531	.|.	.|.	.|.	5.24|5.24	4.35|4.35	0.52113|0.52113	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.66499	.|0.2795	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71803	.|-0.4482	.|3	0.02654|.	T|.	1|.	-20.2201|-20.2201	15.3356|15.3356	0.74250|0.74250	0.0:0.0:0.8591:0.1409|0.0:0.0:0.8591:0.1409	.|.	.|.	.|.	.|.	X|L	437|8	.|.	ENSP00000311401:R437X|.	R|S	-|-	1|2	2|0	FAM116A|FAM116A	57594076|57594076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.562000|0.562000	0.23531|0.23531	1.264000|1.264000	0.44198|0.44198	0.557000|0.557000	0.71058|0.71058	CGA|TCG	DENND6A	-	pfam_Afi1_N	ENSG00000174839		0.303	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6A	HGNC	protein_coding	OTTHUMT00000351594.1	-	0	63	0	G	NM_152678		57619036	-1	tier1	-	no_errors	ENST00000311128	ensembl	human	known	74_37	nonsense	48.94	24	23	SNP	1.000	A	A	57619036	G	A	57619036	4	1	117	1	0	0	0	0	0	1	0	0	5426	1066	37	1	541	1	FAM116A	3	57619036	Nonsense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	7904921	57619036	140403394	33	31059											
OR5H15	403274	genome.wustl.edu	37	chr3	97888442	97888442	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaataagcaagtcatagtttCattcataaaaatgttaaaaa	21	12	4	4	0	3	0	3	0	0	0	3	0	3	0	0	0	1	3	0	0	10	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:97888442C>G	ENST00000356526.2	+	1	899	c.899C>G	c.(898-900)tCa>tGa	p.S300*		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S300L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTCATAGTTTCATTCATAAAA	0.308																																																	1	Substitution - Missense(1)	NS(1)											46	50	49					3																	97888442		2191	4295	6486	SO:0001587	stop_gained	0				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.899C>G	3.37:g.97888442C>G	ENSP00000373195:p.Ser300*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S300*	ENST00000356526.2	37	c.899	CCDS33799.1	3	.	.	.	.	.	.	.	.	.	.	-	9.282	1.048372	0.19827	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	.	.	.	2.48	2.48	0.30137	.	0.216459	0.23541	N	0.047070	.	.	.	.	.	.	0.26942	N	0.966221	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.7066	0.45958	0.0:1.0:0.0:0.0	.	.	.	.	X	300	.	ENSP00000373195:S300X	S	+	2	0	OR5H15	99371132	0.229000	0.23729	0.003000	0.11579	0.005000	0.04900	1.325000	0.33724	1.386000	0.46466	0.184000	0.17185	TCA	OR5H15	-	NULL	ENSG00000233412		0.308	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	-	0	38	0	C			97888442	1	tier1	-	no_errors	ENST00000356526	ensembl	human	known	74_37	nonsense	13.64	38	6	SNP	0.001	G	G	97888442	C	G	97888442	4	3	117	1	0	0	0	0	0	1	0	0	11200	838	29	5	901	5	OR5H15	3	97888442	Nonsense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	40269406	97888442	100133988	34	31060											
DCBLD2	131566	genome.wustl.edu	37	chr3	98518687	98518688	+	Splice_Site	DEL	TG	TG	-																															accagtggctgagcatactcTgtggatatcacaaaacaaca																										TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:98518687_98518688delTG	ENST00000326840.6	-	16	2221		c.e16-2		DCBLD2_ENST00000326857.9_Splice_Site	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2						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						GAGCATACTCTGTGGATATCAC	0.386																																																	0																																										SO:0001630	splice_region_variant	0				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.1859-2CA>-	3.37:g.98518689_98518690delTG			B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Splice_Site	DEL	-	e16-2	ENST00000326840.6	37	c.1901-3_1901-2	CCDS46878.1	3																																																																																			DCBLD2	-	-	ENSG00000057019		0.386	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2		0	17	0	TG	NM_080927	Intron	98518688	-1	tier1		no_errors	ENST00000326857	ensembl	human	known	74_37	splice_site_del	17.39	19	4	DEL	1.000:0.993	-	-	98518688	TG	-	98518687	8	5	117	1	0	1	0	1	0	0	1	0	4290	1594	55	0	474	0	DCBLD2	3	98518687	Splice_Site	DEL	TG	TCGA-LN-A4A8-01A-32D-A27G-09	630245	98518687	99503743	35	31061											
WDR52	55779	genome.wustl.edu	37	chr3	113145025	113145025	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtcacaaaaggcatcGaagcaagctccatataatca	17	6	7	11	1	2	1	2	0	0	1	4	2	3	1	2	1	2	3	2	1	6	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:113145025G>T	ENST00000295868.2	-	4	515	c.353C>A	c.(352-354)tCg>tAg	p.S118*	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Nonsense_Mutation_p.S118*|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2												p.S118L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AAAAGGCATCGAAGCAAGCTC	0.413																																																	1	Substitution - Missense(1)	lung(1)											226	230	229					3																	113145025		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000295868.2:c.353C>A	3.37:g.113145025G>T	ENSP00000295868:p.Ser118*			Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S118*	ENST00000295868.2	37	c.353	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808666	0.70797	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	.	.	.	6.16	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6862	0.62517	0.0716:0.0:0.9284:0.0	.	.	.	.	X	118	.	ENSP00000295868:S118X	S	-	2	0	WDR52	114627715	1.000000	0.71417	0.042000	0.18584	0.580000	0.36256	5.498000	0.66931	1.623000	0.50342	0.650000	0.86243	TCG	WDR52	-	NULL	ENSG00000206530		0.413	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	-	0	38	0	G			113145025	-1	tier1	-	no_errors	ENST00000393845	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	0.871	T	T	113145025	G	T	113145025	4	4	117	1	0	0	0	0	0	1	0	0	17353	1059	37	2	5354	2	WDR52	3	113145025	Nonsense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	14626338	113145025	84877405	36	31062											
UPK1B	7348	genome.wustl.edu	37	chr3	118913174	118913174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctcgtcaatgctgtgttAtgaacaatcttaaagaacct	12	12	8	9	1	2	2	1	1	1	1	3	2	2	2	2	1	3	2	2	1	7	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:118913174A>G	ENST00000264234.3	+	6	726	c.577A>G	c.(577-579)Atg>Gtg	p.M193V	UPK1B_ENST00000460625.1_Missense_Mutation_p.M185V|UPK1B_ENST00000497685.1_Missense_Mutation_p.M113V	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	193					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		ATGCTGTGTTATGAACAATCT	0.473																																																	0													157	142	147					3																	118913174		2203	4300	6503	SO:0001583	missense	0			AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"Tetraspanins"	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.577A>G	3.37:g.118913174A>G	ENSP00000264234:p.Met193Val		O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.M193V	ENST00000264234.3	37	c.577	CCDS2985.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505780	0.44558	.	.	ENSG00000114638	ENST00000497685;ENST00000264234;ENST00000460625	D;D;D	0.86562	-2.14;-2.14;-2.14	5.92	4.7	0.59300	Tetraspanin, EC2 domain (1);	0.055950	0.64402	D	0.000001	T	0.82024	0.4947	L	0.44542	1.39	0.38321	D	0.943534	B;B	0.16802	0.019;0.017	B;B	0.22152	0.014;0.038	T	0.78971	-0.1993	10	0.32370	T	0.25	-7.4106	11.856	0.52437	0.8541:0.1459:0.0:0.0	.	185;193	C9J9M7;O75841	.;UPK1B_HUMAN	V	113;193;185	ENSP00000418972:M113V;ENSP00000264234:M193V;ENSP00000418116:M185V	ENSP00000264234:M193V	M	+	1	0	UPK1B	120395864	0.015000	0.18098	0.995000	0.50966	0.980000	0.70556	0.125000	0.15749	2.267000	0.75376	0.383000	0.25322	ATG	UPK1B	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000114638		0.473	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1B	HGNC	protein_coding	OTTHUMT00000354883.2	-	0	70	0	A			118913174	1	tier1	-	no_errors	ENST00000264234	ensembl	human	known	74_37	missense	24.66	54	18	SNP	0.988	G	G	118913174	A	G	118913174	3	3	117	1	0	0	0	0	1	0	0	0	17057	449	16	4	595	4	UPK1B	3	118913174	Missense_Mutation	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09	5768149	118913174	79109256	37	31063											
STAG1	10274	genome.wustl.edu	37	chr3	136141639	136141639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacctgtgctgtagatttCtaaatcaaaatactgtggga	12	14	8	7	0	3	1	1	0	2	1	3	2	3	2	1	1	3	2	1	1	7	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:136141639C>G	ENST00000383202.2	-	18	2060	c.1804G>C	c.(1804-1806)Gaa>Caa	p.E602Q	STAG1_ENST00000536929.1_Missense_Mutation_p.E186Q|STAG1_ENST00000236698.5_Missense_Mutation_p.E602Q|STAG1_ENST00000434713.2_Missense_Mutation_p.E376Q	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	602					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						CTGTAGATTTCTAAATCAAAA	0.308																																																	0													64	64	64					3																	136141639		2203	4298	6501	SO:0001583	missense	0			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.1804G>C	3.37:g.136141639C>G	ENSP00000372689:p.Glu602Gln		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.E602Q	ENST00000383202.2	37	c.1804	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959490	0.92791	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.66	5.66	0.87406	Armadillo-type fold (1);	0.155395	0.56097	D	0.000026	T	0.29524	0.0736	M	0.71036	2.16	0.80722	D	1	P;P;P	0.46020	0.764;0.871;0.764	P;P;P	0.49192	0.602;0.557;0.602	T	0.00800	-1.1561	10	0.52906	T	0.07	.	19.8002	0.96504	0.0:1.0:0.0:0.0	.	619;602;602	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	Q	602;602;376;186	ENSP00000372689:E602Q;ENSP00000236698:E602Q;ENSP00000404396:E376Q;ENSP00000445787:E186Q	ENSP00000236698:E602Q	E	-	1	0	STAG1	137624329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.934000	0.70138	2.673000	0.90976	0.650000	0.86243	GAA	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.308	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	-	0	41	0	C	NM_005862		136141639	-1	tier1	-	no_errors	ENST00000383202	ensembl	human	known	74_37	missense	24.14	44	14	SNP	1.000	G	G	136141639	C	G	136141639	3	3	117	1	0	0	0	0	1	0	0	0	15289	922	32	5	2040	5	STAG1	3	136141639	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	17228465	136141639	61880791	38	31064											
TFDP2	7029	genome.wustl.edu	37	chr3	141811953	141811953	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	atcctcttacttctgcatttGtggaagtcaaaccaacctga	11	13	6	11	0	3	1	1	1	2	0	4	2	4	2	3	1	4	1	3	1	4	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:141811953G>A	ENST00000489671.1	-	3	462	c.32C>T	c.(31-33)aCa>aTa	p.T11I	TFDP2_ENST00000499676.2_5'UTR|TFDP2_ENST00000464782.1_Intron|TFDP2_ENST00000467072.1_5'UTR|TFDP2_ENST00000317104.7_5'UTR			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	11					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|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)	nucleoplasm (GO:0005654)|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 cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						TTCTGCATTTGTGGAAGTCAA	0.279																																																	0													6	7	7					3																	141811953		857	1965	2822	SO:0001583	missense	0			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.32C>T	3.37:g.141811953G>A	ENSP00000420616:p.Thr11Ile		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.T11I	ENST00000489671.1	37	c.32	CCDS54650.1	3	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030938	0.35797	.	.	ENSG00000114126	ENST00000489671;ENST00000467634	T;T	0.35789	1.85;1.29	5.44	4.54	0.55810	.	0.268685	0.25900	N	0.027563	T	0.28466	0.0704	N	0.25647	0.755	0.80722	D	1	P	0.35982	0.531	B	0.38156	0.266	T	0.09058	-1.0692	10	0.56958	D	0.05	.	11.3247	0.49442	0.0:0.0:0.8179:0.1821	.	11	Q14188	TFDP2_HUMAN	I	11	ENSP00000420616:T11I;ENSP00000419540:T11I	ENSP00000419540:T11I	T	-	2	0	TFDP2	143294643	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.832000	0.48152	1.249000	0.43950	0.585000	0.79938	ACA	TFDP2	-	pirsf_Transcrpt_fac_DP	ENSG00000114126		0.279	TFDP2-001	KNOWN	basic|CCDS	protein_coding	TFDP2	HGNC	protein_coding	OTTHUMT00000353294.4	-	0	50	0	G	NM_006286		141811953	-1	tier1	-	no_errors	ENST00000489671	ensembl	human	known	74_37	missense	8.11	68	6	SNP	1.000	A	A	141811953	G	A	141811953	3	1	117	1	0	0	0	0	1	0	0	0	15845	1377	48	3	1461	3	TFDP2	3	141811953	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	5670314	141811953	56210477	39	31065											
ATR	545	genome.wustl.edu	37	chr3	142168307	142168307	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccaagatacatctggcaTagtaagttttcatcagtagc	14	11	7	9	0	3	1	2	0	1	1	3	1	3	1	1	1	3	4	1	1	6	6	rs147649584		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:142168307T>A	ENST00000350721.4	-	47	8020	c.7899A>T	c.(7897-7899)ctA>ctT	p.L2633L	XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000544157.1_5'Flank|ATR_ENST00000383101.3_Silent_p.L2569L|XRN1_ENST00000264951.4_5'Flank|XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000392981.2_5'Flank	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2633	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				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						ACATCTGGCATAGTAAGTTTT	0.343								Other conserved DNA damage response genes																																									0													118	116	116					3																	142168307		2203	4300	6503	SO:0001819	synonymous_variant	0			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.7899A>T	3.37:g.142168307T>A			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.L2633	ENST00000350721.4	37	c.7899	CCDS3124.1	3																																																																																			ATR	-	pfam_FATC,smart_PI3/4_kinase_cat_dom,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	ENSG00000175054		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	-	0	67	0	T	NM_001184		142168307	-1	tier1	-	no_errors	ENST00000350721	ensembl	human	known	74_37	silent	14.75	52	9	SNP	0.289	A	A	142168307	T	A	142168307	2	1	117	1	0	0	0	0	0	0	0	1	1205	1393	49	5		5	ATR	3	142168307	Silent	SNP	T	TCGA-LN-A4A8-01A-32D-A27G-09	356354	142168307	55854123	40	31066											
MED12L	116931	genome.wustl.edu	37	chr3	151107839	151107839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcccaaatgatgcaccatCcacagtccaccttgtggggt	9	9	8	15	0	0	1	0	1	0	0	3	1	3	1	6	2	1	1	6	2	1	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:151107839C>A	ENST00000474524.1	+	36	5457	c.5419C>A	c.(5419-5421)Cca>Aca	p.P1807T	MED12L_ENST00000273432.4_Missense_Mutation_p.P1667T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1807						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)			GATGCACCATCCACAGTCCAC	0.463																																																	0													182	183	183					3																	151107839		2203	4300	6503	SO:0001583	missense	0			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.5419C>A	3.37:g.151107839C>A	ENSP00000417235:p.Pro1807Thr		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.P1807T	ENST00000474524.1	37	c.5419	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792511	0.31685	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.61510	0.31;0.1	5.86	4.99	0.66335	.	0.213120	0.40222	N	0.001150	T	0.57695	0.2071	M	0.62723	1.935	0.36932	D	0.891956	B;B	0.22909	0.009;0.077	B;B	0.26693	0.013;0.072	T	0.63594	-0.6602	10	0.66056	D	0.02	-16.0937	14.5922	0.68373	0.1457:0.8543:0.0:0.0	.	1667;1807	F8WAE6;Q86YW9	.;MD12L_HUMAN	T	1807;1667	ENSP00000417235:P1807T;ENSP00000273432:P1667T	ENSP00000273432:P1667T	P	+	1	0	MED12L	152590529	0.767000	0.28508	0.693000	0.30195	0.532000	0.34746	1.868000	0.39509	1.456000	0.47831	0.655000	0.94253	CCA	MED12L	-	NULL	ENSG00000144893		0.463	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0	57	0	C	NM_053002		151107839	1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.866	A	A	151107839	C	A	151107839	3	1	117	1	0	0	0	0	1	0	0	0	9467	855	30	3	5561	3	MED12L	3	151107839	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	8939532	151107839	46914591	41	31067											
PLCH1	23007	genome.wustl.edu	37	chr3	155267678	155267678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtctccgaatattcctttCaggtactgagcaatcttcct	8	16	6	11	1	3	1	1	1	2	0	6	2	5	1	3	1	2	2	3	1	4	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:155267678C>T	ENST00000340059.7	-	9	1223	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	PLCH1_ENST00000494598.1_Silent_p.L408L|PLCH1_ENST00000334686.6_Silent_p.L390L|PLCH1_ENST00000447496.2_Silent_p.L408L|PLCH1_ENST00000460012.1_Silent_p.L390L|PLCH1_ENST00000414191.1_Silent_p.L390L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	408	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATATTCCTTTCAGGTACTGAG	0.448																																																	0													114	107	109					3																	155267678		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1224G>A	3.37:g.155267678C>T			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L408	ENST00000340059.7	37	c.1224	CCDS46939.1	3																																																																																			PLCH1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000114805		0.448	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1		0	52	0	C	NM_014996		155267678	-1			no_errors	ENST00000340059	ensembl	human	known	74_37	silent	5.77	49	3	SNP	0.998	T	T	155267678	C	T	155267678	2	4	117	1	0	0	0	0	0	0	0	1	12076	813	29	3		3	PLCH1	3	155267678	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	4159839	155267678	42754752	42	31068											
SLC33A1	9197	genome.wustl.edu	37	chr3	155547652	155547652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggatcactaacctttgcaTtgaaagccattatagaaaca	15	11	7	8	0	1	2	1	1	0	1	1	3	1	3	2	1	4	1	2	1	5	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:155547652T>C	ENST00000392845.3	-	5	1687	c.1307A>G	c.(1306-1308)aAt>aGt	p.N436S	SLC33A1_ENST00000359479.3_Missense_Mutation_p.N436S			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	436					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACCTTTGCATTGAAAGCCAT	0.368																																																	0													98	85	90					3																	155547652		2203	4300	6503	SO:0001583	missense	0			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.1307A>G	3.37:g.155547652T>C	ENSP00000376587:p.Asn436Ser		B2R5Q2|D3DNK4	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	p.N436S	ENST00000392845.3	37	c.1307	CCDS3173.1	3	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707576	0.48412	.	.	ENSG00000169359	ENST00000392845;ENST00000359479;ENST00000496772	T;T;T	0.25250	1.81;1.81;1.81	5.61	5.61	0.85477	Major facilitator superfamily domain, general substrate transporter (1);	0.042575	0.85682	D	0.000000	T	0.24967	0.0606	L	0.38838	1.175	0.51482	D	0.999928	B	0.21821	0.061	B	0.29440	0.102	T	0.03503	-1.1030	10	0.30854	T	0.27	-19.8431	15.8388	0.78824	0.0:0.0:0.0:1.0	.	436	O00400	ACATN_HUMAN	S	436;436;72	ENSP00000376587:N436S;ENSP00000352456:N436S;ENSP00000419165:N72S	ENSP00000352456:N436S	N	-	2	0	SLC33A1	157030346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.923000	0.87546	2.154000	0.67381	0.477000	0.44152	AAT	SLC33A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	ENSG00000169359		0.368	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SLC33A1	HGNC	protein_coding	OTTHUMT00000351130.3	-	0	63	0	T	NM_004733		155547652	-1	tier1	-	no_errors	ENST00000359479	ensembl	human	known	74_37	missense	25.00	69	23	SNP	1.000	C	C	155547652	T	C	155547652	3	2	117	1	0	0	0	0	1	0	0	0	14611	1493	52	4	350	4	SLC33A1	3	155547652	Missense_Mutation	SNP	T	TCGA-LN-A4A8-01A-32D-A27G-09	279974	155547652	42474778	43	31069											
FAM131A	131408	genome.wustl.edu	37	chr3	184062689	184062689	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgggaacggcagcggcaAgcctctgacctggcctcttc	7	7	13	14	2	2	1	0	1	2	0	3	2	2	2	3	4	4	3	3	4	2	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:184062689A>T	ENST00000310585.4	+	3	2303	c.939A>T	c.(937-939)caA>caT	p.Q313H	FAM131A_ENST00000383847.2_Missense_Mutation_p.Q344H|FAM131A_ENST00000453072.1_Missense_Mutation_p.Q259H|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000450976.1_Missense_Mutation_p.Q259H|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Missense_Mutation_p.Q259H			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)			GGCAGCGGCAAGCCTCTGACC	0.637																																																	0													24	20	21					3																	184062689		2201	4298	6499	SO:0001583	missense	0			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.939A>T	3.37:g.184062689A>T	ENSP00000310135:p.Gln313His		D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	NULL	p.Q344H	ENST00000310585.4	37	c.1032		3	.	.	.	.	.	.	.	.	.	.	a	14.71	2.616845	0.46736	.	.	ENSG00000175182	ENST00000450976;ENST00000340957;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	4.63	3.44	0.39384	.	0.322570	0.28600	N	0.014777	T	0.23451	0.0567	N	0.22421	0.69	0.34102	D	0.662021	P;P	0.49447	0.924;0.924	P;B	0.51135	0.66;0.443	T	0.32188	-0.9916	10	0.72032	D	0.01	-26.278	7.2991	0.26409	0.749:0.0:0.251:0.0	.	313;344	Q6UXB0;G5E9B1	F131A_HUMAN;.	H	259;259;344;259;313	ENSP00000388551:Q259H;ENSP00000340974:Q259H;ENSP00000373360:Q344H;ENSP00000390588:Q259H;ENSP00000310135:Q313H	ENSP00000310135:Q313H	Q	+	3	2	FAM131A	185545383	1.000000	0.71417	0.996000	0.52242	0.664000	0.39144	1.741000	0.38238	0.603000	0.29913	0.482000	0.46254	CAA	FAM131A	-	NULL	ENSG00000175182		0.637	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	-	0	75	0	A	NM_144635		184062689	1	tier1	-	no_errors	ENST00000383847	ensembl	human	known	74_37	missense	30.12	58	25	SNP	1.000	T	T	184062689	A	T	184062689	3	4	117	1	0	0	0	0	1	0	0	0	5458	69	3	5	1054	5	FAM131A	3	184062689	Missense_Mutation	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09	28515037	184062689	13959741	44	31070											
RTP4	64108	genome.wustl.edu	37	chr3	187086357	187086357	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcctggctcaagggtggaAgcaataccaacagagagcat	13	6	12	10	0	1	1	1	0	0	1	1	3	1	2	2	3	5	3	2	3	5	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:187086357A>T	ENST00000259030.2	+	1	238	c.128A>T	c.(127-129)aAg>aTg	p.K43M		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	43					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CAAGGGTGGAAGCAATACCAA	0.507																																																	0													79	69	73					3																	187086357		2203	4300	6503	SO:0001583	missense	0			BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"Receptor transporter proteins"	23992	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 4"	609350	"receptor transporter protein 4"			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.128A>T	3.37:g.187086357A>T	ENSP00000259030:p.Lys43Met		Q9H4F3	Missense_Mutation	SNP	NULL	p.K43M	ENST00000259030.2	37	c.128	CCDS33910.1	3	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343957	0.61073	.	.	ENSG00000136514	ENST00000259030	T	0.22945	1.93	4.07	-0.583	0.11706	.	0.676978	0.14534	N	0.313699	T	0.18800	0.0451	L	0.49350	1.555	0.26317	N	0.977738	P	0.37781	0.608	B	0.32465	0.146	T	0.08994	-1.0695	10	0.44086	T	0.13	-19.4203	8.3185	0.32115	0.3214:0.0:0.6786:0.0	.	43	Q96DX8	RTP4_HUMAN	M	43	ENSP00000259030:K43M	ENSP00000259030:K43M	K	+	2	0	RTP4	188569051	0.988000	0.35896	0.972000	0.41901	0.842000	0.47809	-0.050000	0.11904	-0.108000	0.12066	0.533000	0.62120	AAG	RTP4	-	NULL	ENSG00000136514		0.507	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP4	HGNC	protein_coding	OTTHUMT00000344260.1	-	0	16	0	A	NM_022147		187086357	1	tier1	-	no_errors	ENST00000259030	ensembl	human	known	74_37	missense	35.00	13	7	SNP	0.978	T	T	187086357	A	T	187086357	3	4	117	1	0	0	0	0	1	0	0	0	13781	72	3	5	130	5	RTP4	3	187086357	Missense_Mutation	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09	3023668	187086357	10936073	45	31071											
HRASLS	57110	genome.wustl.edu	37	chr3	192980950	192980950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtaattggacaggaggtgGcctataacttacttgtcaac	11	13	10	7	0	1	0	1	0	0	0	1	2	1	2	1	4	3	1	1	4	5	7			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr3:192980950G>C	ENST00000602513.1	+	3	740	c.331G>C	c.(331-333)Gcc>Ccc	p.A111P	HRASLS_ENST00000264735.2_Missense_Mutation_p.A216P			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	111					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		ACAGGAGGTGGCCTATAACTT	0.398																																																	0													104	107	106					3																	192980950		2203	4300	6503	SO:0001583	missense	0			AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.331G>C	3.37:g.192980950G>C	ENSP00000473258:p.Ala111Pro		D2KX19	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.A216P	ENST00000602513.1	37	c.646		3	.	.	.	.	.	.	.	.	.	.	G	3.841	-0.033863	0.07543	.	.	ENSG00000127252	ENST00000264735	.	.	.	5.87	-0.199	0.13220	NC (1);	0.434432	0.27231	N	0.020316	T	0.10680	0.0261	N	0.01522	-0.82	0.27129	N	0.96195	B	0.02656	0.0	B	0.04013	0.001	T	0.27400	-1.0075	9	0.21014	T	0.42	-8.5533	6.5224	0.22283	0.0695:0.0956:0.2161:0.6187	.	111	Q9HDD0	HRSL1_HUMAN	P	111	.	ENSP00000264735:A111P	A	+	1	0	HRASLS	194463644	0.973000	0.33851	0.220000	0.23810	0.032000	0.12392	0.899000	0.28417	0.122000	0.18314	-0.182000	0.12963	GCC	HRASLS	-	pfam_LRAT-like_dom	ENSG00000127252		0.398	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	HRASLS	HGNC	protein_coding		-	0	67	0	G			192980950	1	tier1	-	no_errors	ENST00000264735	ensembl	human	known	74_37	missense	22.73	68	20	SNP	0.754	C	C	192980950	G	C	192980950	3	2	117	1	0	0	0	0	1	0	0	0	7376	1203	42	5	337	5	HRASLS	3	192980950	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	5894593	192980950	5041480	46	31072											
CPZ	8532	genome.wustl.edu	37	chr4	8620227	8620227	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaacgcccggatctcagtCaaaggcattcgccacgacat	14	6	8	13	4	2	0	2	0	1	0	4	2	2	1	2	2	1	1	2	2	3	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:8620227C>G	ENST00000360986.4	+	10	1749	c.1575C>G	c.(1573-1575)gtC>gtG	p.V525V	CPZ_ENST00000315782.6_Silent_p.V514V|CPZ_ENST00000429646.2_Silent_p.V133V|CPZ_ENST00000382480.2_Silent_p.V388V	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	525					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						GGATCTCAGTCAAAGGCATTC	0.602																																																	0													107	93	98					4																	8620227		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1575C>G	4.37:g.8620227C>G			O00520|Q96MX2	Silent	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.V525	ENST00000360986.4	37	c.1575	CCDS33953.1	4																																																																																			CPZ	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000109625		0.602	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	-	0	35	0	C	NM_003652		8620227	1	tier1	-	no_errors	ENST00000360986	ensembl	human	known	74_37	silent	30.00	14	6	SNP	0.991	G	G	8620227	C	G	8620227	2	3	117	1	0	0	0	0	0	0	0	1	3846	813	29	5		5	CPZ	4	8620227	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09		8620227	182534049	47	31073											
LIMCH1	22998	genome.wustl.edu	37	chr4	41648815	41648815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtcagcaggcagtgggtctCcaagcaaaactgtcactccc	10	8	10	13	0	3	0	2	0	1	0	5	0	4	0	2	2	3	3	2	2	3	0			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:41648815C>G	ENST00000313860.7	+	12	1624	c.1570C>G	c.(1570-1572)Cca>Gca	p.P524A	LIMCH1_ENST00000512632.1_Missense_Mutation_p.P524A|LIMCH1_ENST00000511496.1_Missense_Mutation_p.P365A|LIMCH1_ENST00000513024.1_Missense_Mutation_p.P353A|LIMCH1_ENST00000512820.1_Missense_Mutation_p.P512A|LIMCH1_ENST00000396595.3_Missense_Mutation_p.P370A|LIMCH1_ENST00000381753.4_Missense_Mutation_p.P358A|LIMCH1_ENST00000514096.1_Missense_Mutation_p.P365A|LIMCH1_ENST00000509277.1_Missense_Mutation_p.P358A|LIMCH1_ENST00000512946.1_Missense_Mutation_p.P524A|LIMCH1_ENST00000508501.1_Missense_Mutation_p.P524A|LIMCH1_ENST00000503057.1_Missense_Mutation_p.P909A	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	524					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						CAGTGGGTCTCCAAGCAAAAC	0.507																																																	0													143	143	143					4																	41648815		2203	4300	6503	SO:0001583	missense	0			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.1570C>G	4.37:g.41648815C>G	ENSP00000316891:p.Pro524Ala		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P909A	ENST00000313860.7	37	c.2725	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909477	0.72868	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.99;1.28;1.35;1.29;0.99;1.29;0.67;0.75;0.65;0.67;0.75;0.66	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.67795	0.2931	M	0.72894	2.215	0.45718	D	0.99862	B;P;B;B;P;D;P;D;D;D;D	0.89917	0.402;0.76;0.402;0.34;0.851;0.998;0.537;1.0;1.0;1.0;1.0	B;P;B;B;P;D;B;D;D;D;D	0.91635	0.119;0.616;0.074;0.316;0.71;0.996;0.237;0.999;0.997;0.999;0.997	T	0.62286	-0.6886	10	0.21540	T	0.41	-11.2404	18.9096	0.92477	0.0:1.0:0.0:0.0	.	275;358;524;358;370;909;353;512;524;524;524	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	A	353;524;524;524;524;512;909;365;908;365;358;370;358	ENSP00000425222:P353A;ENSP00000424825:P524A;ENSP00000424645:P524A;ENSP00000316891:P524A;ENSP00000427045:P524A;ENSP00000424437:P512A;ENSP00000425631:P909A;ENSP00000421242:P365A;ENSP00000426334:P365A;ENSP00000422864:P358A;ENSP00000379840:P370A;ENSP00000371172:P358A	ENSP00000316891:P524A	P	+	1	0	LIMCH1	41343572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.690000	0.61731	2.559000	0.86315	0.591000	0.81541	CCA	LIMCH1	-	NULL	ENSG00000064042		0.507	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	-	0	36	0	C	NM_014988		41648815	1	tier1	-	no_errors	ENST00000503057	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	G	G	41648815	C	G	41648815	3	3	117	1	0	0	0	0	1	0	0	0	8826	855	30	5	1644	5	LIMCH1	4	41648815	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	33028588	41648815	149505461	48	31074											
CWH43	80157	genome.wustl.edu	37	chr4	49034650	49034650	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccgtcaccagagggcGagatcgcaccagccatcaca	10	7	9	15	3	3	2	2	0	1	2	5	3	4	2	4	1	1	1	4	1	0	2	rs376324090		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:49034650G>T	ENST00000226432.4	+	12	1759	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	CWH43_ENST00000513409.1_Nonsense_Mutation_p.E499*	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	526					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.E526K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACCAGAGGGCGAGATCGCACC	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)						G	stop/GLU	0,4406		0,0,2203	231	198	209		1576	4.4	1	4		209	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	CWH43	NM_025087.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		526/700	49034650	1,13005	2203	4300	6503	SO:0001587	stop_gained	0				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.1576G>T	4.37:g.49034650G>T	ENSP00000226432:p.Glu526*		B2RPD7	Nonsense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.E526*	ENST00000226432.4	37	c.1576	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	38	6.883273	0.97908	0.0	1.16E-4	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	5.24	4.38	0.52667	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2826	0.54774	0.0809:0.0:0.9191:0.0	.	.	.	.	X	526;499	.	.	E	+	1	0	CWH43	48729407	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.479000	0.60236	2.737000	0.93849	0.561000	0.74099	GAG	CWH43	-	superfamily_Endo/exonuclease/phosphatase	ENSG00000109182		0.478	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2		0	53	0	G	NM_025087		49034650	1			no_errors	ENST00000226432	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	1.000	T	T	49034650	G	T	49034650	4	4	117	1	0	0	0	0	0	1	0	0	4082	1059	37	2	1622	2	CWH43	4	49034650	Nonsense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	7385835	49034650	142119626	49	31075											
ANKRD17	26057	genome.wustl.edu	37	chr4	74027042	74027042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgcaaaggctttaccatCagccgtggacaattttccta	11	12	7	11	1	2	0	1	0	1	0	3	1	3	1	3	2	3	2	3	2	4	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:74027042C>T	ENST00000358602.4	-	3	687	c.571G>A	c.(571-573)Gat>Aat	p.D191N	ANKRD17_ENST00000330838.6_Missense_Mutation_p.D191N|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D78N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	191					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)			GCTTTACCATCAGCCGTGGAC	0.413																																																	0													115	105	109					4																	74027042		2203	4300	6503	SO:0001583	missense	0			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.571G>A	4.37:g.74027042C>T	ENSP00000351416:p.Asp191Asn		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.D191N	ENST00000358602.4	37	c.571	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524542	0.85600	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.68479	-0.31;-0.2;-0.33	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	T	0.74913	0.3779	L	0.46157	1.445	0.39935	D	0.974338	P;D;D;P	0.56968	0.894;0.978;0.962;0.668	P;P;P;B	0.58077	0.675;0.832;0.767;0.379	T	0.75096	-0.3438	10	0.45353	T	0.12	.	19.4722	0.94967	0.0:1.0:0.0:0.0	.	191;191;191;78	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	N	191;191;191;78;191	ENSP00000351416:D191N;ENSP00000332265:D191N;ENSP00000427151:D78N	ENSP00000332265:D191N	D	-	1	0	ANKRD17	74245906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.803000	0.85983	2.614000	0.88457	0.591000	0.81541	GAT	ANKRD17	-	NULL	ENSG00000132466		0.413	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	-	0	39	0	C	NM_032217		74027042	-1	tier1	-	no_errors	ENST00000358602	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	74027042	C	T	74027042	3	4	117	1	0	0	0	0	1	0	0	0	646	826	29	3	7368	3	ANKRD17	4	74027042	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	24992392	74027042	117127234	50	31076											
PKD2	5311	genome.wustl.edu	37	chr4	88989068	88989068	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaggacctggatttggatCacagttctttaccacgtccc	9	11	10	11	1	2	0	1	0	1	0	3	4	3	4	3	4	1	1	3	4	1	4			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:88989068C>G	ENST00000508588.1	+	8	1026	c.631C>G	c.(631-633)Cac>Gac	p.H211D	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Missense_Mutation_p.H793D|PKD2_ENST00000502363.1_Missense_Mutation_p.H211D			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)			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)		GGATTTGGATCACAGTTCTTT	0.532																																																	0													117	104	108					4																	88989068		2203	4300	6503	SO:0001583	missense	0			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.631C>G	4.37:g.88989068C>G	ENSP00000427131:p.His211Asp		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.H793D	ENST00000508588.1	37	c.2377		4	.	.	.	.	.	.	.	.	.	.	C	9.401	1.078134	0.20227	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.71579	-0.58;-0.58;-0.58	5.68	5.68	0.88126	.	0.110429	0.64402	D	0.000013	T	0.55609	0.1931	N	0.22421	0.69	0.44227	D	0.997067	P	0.42827	0.791	B	0.35114	0.196	T	0.62358	-0.6871	10	0.54805	T	0.06	-27.0673	14.508	0.67764	0.1819:0.818:0.0:0.0	.	793	Q13563	PKD2_HUMAN	D	793;211;211	ENSP00000237596:H793D;ENSP00000427131:H211D;ENSP00000425289:H211D	ENSP00000237596:H793D	H	+	1	0	PKD2	89208092	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	4.413000	0.59795	2.668000	0.90789	0.563000	0.77884	CAC	PKD2	-	NULL	ENSG00000118762		0.532	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000363253.2	-	0	48	0	C	NM_000297		88989068	1	tier1	-	no_errors	ENST00000237596	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	G	G	88989068	C	G	88989068	3	3	117	1	0	0	0	0	1	0	0	0	12005	826	29	5	2427	5	PKD2	4	88989068	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	14962026	88989068	102165208	51	31077											
C4orf37	285555	genome.wustl.edu	37	chr4	99049692	99049692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atatgactttccacaagaagGaattgaaggaacatcaacac	18	8	7	8	0	1	3	1	2	0	1	2	5	2	5	1	2	2	0	1	2	7	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:99049692G>A	ENST00000295268.3	-	3	363	c.274C>T	c.(274-276)Cct>Tct	p.P92S		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	92																	CCACAAGAAGGAATTGAAGGA	0.358																																																	0													62	60	60					4																	99049692		2203	4298	6501	SO:0001583	missense	0			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.274C>T	4.37:g.99049692G>A	ENSP00000295268:p.Pro92Ser			Missense_Mutation	SNP	NULL	p.P92S	ENST00000295268.3	37	c.274	CCDS3645.1	4	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484754	0.63962	.	.	ENSG00000163116	ENST00000295268	T	0.26373	1.74	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	L	0.32530	0.975	0.41053	D	0.985316	D	0.89917	1.0	D	0.97110	1.0	T	0.31971	-0.9924	10	0.87932	D	0	4.5602	16.0258	0.80545	0.0:0.0:1.0:0.0	.	92	Q8N412	CD037_HUMAN	S	92	ENSP00000295268:P92S	ENSP00000295268:P92S	P	-	1	0	C4orf37	99268715	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	3.750000	0.55157	2.496000	0.84212	0.655000	0.94253	CCT	STPG2	-	NULL	ENSG00000163116		0.358	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG2	HGNC	protein_coding	OTTHUMT00000253642.1		0	40	0	G	NM_174952		99049692	-1			no_errors	ENST00000295268	ensembl	human	known	74_37	missense	10.20	43	5	SNP	1.000	A	A	99049692	G	A	99049692	3	1	117	1	0	0	0	0	1	0	0	0	2274	1174	41	3	1141	3	C4orf37	4	99049692	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	10060624	99049692	92104584	52	31078											
TET2	54790	genome.wustl.edu	37	chr4	106157097	106157097	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgcacttctccaaaacagaCcatttaccaaaagctcatgt	14	10	5	12	0	2	1	1	0	1	1	3	1	2	1	3	0	4	2	3	0	5	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:106157097C>T	ENST00000540549.1	+	3	2858	c.1998C>T	c.(1996-1998)gaC>gaT	p.D666D	TET2_ENST00000394764.1_Silent_p.D666D|TET2_ENST00000513237.1_Silent_p.D687D|TET2_ENST00000545826.1_Silent_p.D666D|TET2_ENST00000305737.2_Silent_p.D666D|TET2_ENST00000380013.4_Silent_p.D666D|TET2_ENST00000413648.2_Silent_p.D666D			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	666	Gln-rich.		D -> G (in a chronic myelomonocytic leukemia sample; somatic mutation). {ECO:0000269|PubMed:19420352}.		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.(H667_H668)fs*(13_14)(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)		CCAAAACAGACCATTTACCAA	0.438			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											109	106	107					4																	106157097		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1998C>T	4.37:g.106157097C>T			B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	NULL	p.D666	ENST00000540549.1	37	c.1998	CCDS47120.1	4																																																																																			TET2	-	NULL	ENSG00000168769		0.438	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2		0	44	0	C	NM_017628		106157097	1			no_errors	ENST00000380013	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.001	T	T	106157097	C	T	106157097	2	4	117	1	0	0	0	0	0	0	0	1	15817	506	18	3		3	TET2	4	106157097	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	7107405	106157097	84997179	53	31079											
FAT4	79633	genome.wustl.edu	37	chr4	126239676	126239676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattaaggagaatgagcctGgaggtagctacatcaccact	14	8	10	9	0	1	2	1	1	0	1	1	4	1	3	2	3	3	2	2	3	4	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:126239676G>A	ENST00000394329.3	+	1	2123	c.2110G>A	c.(2110-2112)Gga>Aga	p.G704R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	704	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAATGAGCCTGGAGGTAGCTA	0.463																																																	0													81	84	83					4																	126239676		1998	4199	6197	SO:0001583	missense	0			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.2110G>A	4.37:g.126239676G>A	ENSP00000377862:p.Gly704Arg		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G704R	ENST00000394329.3	37	c.2110	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	9.383	1.073395	0.20147	.	.	ENSG00000196159	ENST00000394329	T	0.37235	1.21	5.28	5.28	0.74379	Cadherin (3);Cadherin-like (1);	0.268829	0.18825	U	0.130150	T	0.20901	0.0503	N	0.01505	-0.83	0.80722	D	1	P	0.34699	0.464	B	0.43783	0.431	T	0.30446	-0.9978	10	0.17369	T	0.5	.	14.5429	0.68008	0.0:0.1461:0.8539:0.0	.	704	Q6V0I7	FAT4_HUMAN	R	704	ENSP00000377862:G704R	ENSP00000377862:G704R	G	+	1	0	FAT4	126459126	0.982000	0.34865	1.000000	0.80357	0.860000	0.49131	2.500000	0.45381	2.465000	0.83290	0.655000	0.94253	GGA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196159		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	40	0	G	NM_024582		126239676	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	37.84	23	14	SNP	0.972	A	A	126239676	G	A	126239676	3	1	117	1	0	0	0	0	1	0	0	0	5714	1349	47	3	2112	3	FAT4	4	126239676	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	20082579	126239676	64914600	54	31080											
GUCY1A3	2982	genome.wustl.edu	37	chr4	156632055	156632055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccataatgattgcagcgaGtttgtgaatcagccctactt	10	14	8	9	1	1	2	1	2	0	0	2	3	2	2	2	0	4	2	2	0	3	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:156632055G>T	ENST00000296518.7	+	6	947	c.738G>T	c.(736-738)gaG>gaT	p.E246D	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E246D|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E246D|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E246D|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E246D|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E246D			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	246					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)		ATTGCAGCGAGTTTGTGAATC	0.493																																																	0													126	118	121					4																	156632055		2203	4300	6503	SO:0001583	missense	0				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.738G>T	4.37:g.156632055G>T	ENSP00000296518:p.Glu246Asp		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E246D	ENST00000296518.7	37	c.738	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	G	9.894	1.204925	0.22205	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.77;-1.91;-1.91;-1.91	5.76	1.49	0.22878	.	0.086995	0.49305	D	0.000154	T	0.75517	0.3860	L	0.48362	1.52	0.33152	D	0.545854	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.66368	-0.5941	10	0.19590	T	0.45	.	6.8838	0.24189	0.2377:0.2315:0.5308:0.0	.	246;246;246	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	D	246	ENSP00000424361:E246D;ENSP00000421493:E246D;ENSP00000426968:E246D;ENSP00000412201:E246D;ENSP00000296518:E246D;ENSP00000426040:E246D	ENSP00000296518:E246D	E	+	3	2	GUCY1A3	156851505	1.000000	0.71417	0.311000	0.25182	0.655000	0.38815	0.970000	0.29383	0.280000	0.22209	0.643000	0.83706	GAG	GUCY1A3	-	superfamily_NO_sig/Golgi_transp_ligand-bd	ENSG00000164116		0.493	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	-	0	30	0	G			156632055	1	tier1	-	no_errors	ENST00000296518	ensembl	human	known	74_37	missense	46.34	22	19	SNP	0.973	T	T	156632055	G	T	156632055	3	4	117	1	0	0	0	0	1	0	0	0	6921	1020	36	3	752	3	GUCY1A3	4	156632055	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	30392379	156632055	34522221	55	31081											
GUCY1B3	2983	genome.wustl.edu	37	chr4	156724916	156724916	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggtgaatctgttcaGgttagtaaatgaagtagata	14	13	12	2	0	2	4	1	2	1	2	2	4	2	4	0	2	0	5	0	2	8	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:156724916G>T	ENST00000264424.8	+	11	1636	c.1554G>T	c.(1552-1554)caG>caT	p.Q518H	GUCY1B3_ENST00000507146.1_Splice_Site_p.Q493H|GUCY1B3_ENST00000505154.1_Splice_Site_p.Q450H|GUCY1B3_ENST00000505764.1_Splice_Site_p.Q498H|GUCY1B3_ENST00000513437.1_Splice_Site_p.Q450H|GUCY1B3_ENST00000502959.1_Splice_Site_p.Q540H|GUCY1B3_ENST00000503520.1_Splice_Site_p.Q485H	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	518	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)		AATCTGTTCAGGTTAGTAAAT	0.403																																																	0													65	67	66					4																	156724916		1907	4137	6044	SO:0001630	splice_region_variant	0			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.1554+1G>T	4.37:g.156724916G>T			B7Z426|Q86WY5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.Q518H	ENST00000264424.8	37	c.1554	CCDS47154.1	4	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970174	0.74246	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.61	5.61	0.85477	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.84795	0.5551	M	0.73372	2.23	0.80722	D	1	P;P;B;B;B	0.34639	0.456;0.461;0.295;0.401;0.112	B;B;B;B;B	0.42851	0.306;0.4;0.19;0.204;0.306	T	0.83148	-0.0105	10	0.44086	T	0.13	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	498;540;493;485;518	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	H	450;540;498;493;518;485;450	ENSP00000427226:Q450H;ENSP00000426786:Q540H;ENSP00000426319:Q498H;ENSP00000422313:Q493H;ENSP00000264424:Q518H;ENSP00000420842:Q485H;ENSP00000425065:Q450H	ENSP00000264424:Q518H	Q	+	3	2	GUCY1B3	156944366	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.942000	0.87708	2.793000	0.96121	0.655000	0.94253	CAG	GUCY1B3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000061918		0.403	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	-	0	42	0	G		Missense_Mutation	156724916	1	tier1	-	no_errors	ENST00000264424	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	156724916	G	T	156724916	5	4	117	1	0	0	0	0	0	0	1	0	6922	1014	35	3	1596	3	GUCY1B3	4	156724916	Splice_Site	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	92861	156724916	34429360	56	31082											
FAM198B	51313	genome.wustl.edu	37	chr4	159052052	159052052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttcgctggataatgtgtGctagagccgcagaaccttgg	8	11	13	9	2	0	2	0	0	0	2	1	3	0	3	2	2	3	4	2	2	3	4			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:159052052G>T	ENST00000296530.8	-	4	1859	c.1238C>A	c.(1237-1239)gCa>gAa	p.A413E	FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Missense_Mutation_p.A421E|FAM198B_ENST00000585682.1_Missense_Mutation_p.A413E	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	413						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						GATAATGTGTGCTAGAGCCGC	0.413																																																	0													122	112	116					4																	159052052		2203	4300	6503	SO:0001583	missense	0				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.1238C>A	4.37:g.159052052G>T	ENSP00000296530:p.Ala413Glu		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	NULL	p.A421E	ENST00000296530.8	37	c.1262	CCDS3798.1	4	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884814	0.33255	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000505460	T;T	0.29397	1.57;1.57	5.86	4.11	0.48088	.	0.539136	0.20269	N	0.095712	T	0.25901	0.0631	L	0.44542	1.39	0.19775	N	0.99995	B;B	0.25772	0.134;0.024	B;B	0.19946	0.027;0.018	T	0.17258	-1.0375	10	0.51188	T	0.08	-31.4192	11.0055	0.47631	0.0666:0.0:0.8025:0.1309	.	421;413	Q6UWH4-2;Q6UWH4	.;F198B_HUMAN	E	413;413;421;119	ENSP00000296530:A413E;ENSP00000377396:A421E	ENSP00000296530:A413E	A	-	2	0	FAM198B	159271502	0.063000	0.20901	0.012000	0.15200	0.721000	0.41392	1.773000	0.38563	1.609000	0.50190	0.650000	0.86243	GCA	FAM198B	-	NULL	ENSG00000164125		0.413	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM198B	HGNC	protein_coding	OTTHUMT00000365230.1	-	0	44	0	G	NM_001031700, NM_016613		159052052	-1	tier1	-	no_errors	ENST00000393807	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.060	T	T	159052052	G	T	159052052	3	4	117	1	0	0	0	0	1	0	0	0	5548	1319	46	3	329	3	FAM198B	4	159052052	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	2327136	159052052	32102224	57	31083											
TKTL2	84076	genome.wustl.edu	37	chr4	164394764	164394764	+	Silent	SNP	C	C	T	0	0	0	1	1	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	acctccgctgcactgcagcaCgacgtgagctggccagaacc	9	5	11	16	3	0	2	0	1	0	1	1	3	1	2	4	1	5	5	4	1	1	0			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:164394764C>T	ENST00000280605.3	-	1	283	c.123G>A	c.(121-123)tcG>tcA	p.S41S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	41						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)				CACTGCAGCACGACGTGAGCT	0.597																																																	0													88	63	72					4																	164394764		2203	4300	6503	SO:0001819	synonymous_variant	0			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.123G>A	4.37:g.164394764C>T			A4FVB4|Q8NCT0|Q96M82	Silent	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.S41	ENST00000280605.3	37	c.123	CCDS3805.1	4																																																																																			TKTL2	-	pfam_Transketolase_N	ENSG00000151005		0.597	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	HGNC	protein_coding	OTTHUMT00000365207.1	-	0	40	0	C	NM_032136		164394764	-1	tier1	-	no_errors	ENST00000280605	ensembl	human	known	74_37	silent	46.34	22	19	SNP	0.992	T	T	164394764	C	T	164394764	2	4	117	1	0	0	0	0	0	0	0	1	15983	523	19	1		1	TKTL2	4	164394764	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	5342712	164394764	26759512	58	31084											
CLCN3	1182	genome.wustl.edu	37	chr4	170608906	170608906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacactaacaggattggcatCaggtaaagaaaatttttcaa	18	10	7	6	0	2	1	2	0	0	1	2	2	2	2	0	3	2	2	0	3	7	5	rs200318516		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr4:170608906C>T	ENST00000513761.1	+	4	975	c.416C>T	c.(415-417)tCa>tTa	p.S139L	CLCN3_ENST00000504131.2_Missense_Mutation_p.S122L|CLCN3_ENST00000347613.4_Missense_Mutation_p.S139L|CLCN3_ENST00000360642.3_Missense_Mutation_p.S139L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	139					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)		GGATTGGCATCAGGTAAAGAA	0.358																																																	0													104	98	100					4																	170608906		2203	4300	6503	SO:0001583	missense	0			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.416C>T	4.37:g.170608906C>T	ENSP00000424603:p.Ser139Leu		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3	p.S139L	ENST00000513761.1	37	c.416	CCDS34101.1	4	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765745	0.69878	.	.	ENSG00000109572	ENST00000511092;ENST00000513761;ENST00000347613;ENST00000360642;ENST00000538301;ENST00000504131;ENST00000507875	D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.29	5.29	0.74685	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.89719	0.6796	L	0.35644	1.08	0.80722	D	1	B;B;B;B;B	0.23735	0.054;0.054;0.024;0.054;0.09	B;B;B;B;B	0.28139	0.04;0.04;0.027;0.027;0.086	D	0.86949	0.2084	10	0.72032	D	0.01	-7.54	18.9358	0.92584	0.0:1.0:0.0:0.0	.	139;122;112;139;139	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	L	139;139;139;139;139;122;112	ENSP00000425160:S139L;ENSP00000424603:S139L;ENSP00000261514:S139L;ENSP00000353857:S139L;ENSP00000424540:S122L;ENSP00000425323:S112L	ENSP00000261514:S139L	S	+	2	0	CLCN3	170845481	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.479000	0.81095	2.469000	0.83416	0.557000	0.71058	TCA	CLCN3	-	superfamily_Cl-channel_core	ENSG00000109572		0.358	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLCN3	HGNC	protein_coding	OTTHUMT00000363210.2	-	0	115	0	C			170608906	1	tier1	rs200318516	no_errors	ENST00000347613	ensembl	human	known	74_37	missense	7.09	130	10	SNP	1.000	T	T	170608906	C	T	170608906	3	4	117	1	0	0	0	0	1	0	0	0	3471	838	29	3	426	3	CLCN3	4	170608906	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	6214142	170608906	20545370	59	31085											
CDH10	1008	genome.wustl.edu	37	chr5	24488069	24488069	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaataacgtttctggaatAatatctcgccggagcttttt	12	15	7	7	3	2	0	0	0	2	0	3	2	2	2	1	2	2	2	1	2	6	7			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr5:24488069A>G	ENST00000264463.4	-	12	2577	c.2070T>C	c.(2068-2070)atT>atC	p.I690I	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	690					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)		TTTCTGGAATAATATCTCGCC	0.478										HNSCC(23;0.051)																																							0													63	69	67					5																	24488069		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2070T>C	5.37:g.24488069A>G			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I690	ENST00000264463.4	37	c.2070	CCDS3892.1	5																																																																																			CDH10	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000040731		0.478	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0	30	0	A	NM_006727		24488069	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	silent	57.14	12	16	SNP	0.998	G	G	24488069	A	G	24488069	2	3	117	1	0	0	0	0	0	0	0	1	3103	358	13	4		4	CDH10	5	24488069	Silent	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09		24488069	156427191	60	31086											
TARS	6897	genome.wustl.edu	37	chr5	33457431	33457431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatttatggcatttcattcCcagatcctaaaatgttgaaa	14	14	6	7	0	1	2	1	1	0	1	3	3	3	2	2	1	0	2	2	1	5	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr5:33457431C>A	ENST00000265112.3	+	9	1218	c.907C>A	c.(907-909)Cca>Aca	p.P303T	TARS_ENST00000541634.1_Missense_Mutation_p.P199T|TARS_ENST00000414361.2_Missense_Mutation_p.P182T|TARS_ENST00000502553.1_Missense_Mutation_p.P303T|TARS_ENST00000455217.2_Missense_Mutation_p.P336T	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	303					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)	CATTTCATTCCCAGATCCTAA	0.403																																																	0													112	116	115					5																	33457431		2203	4300	6503	SO:0001583	missense	0			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.907C>A	5.37:g.33457431C>A	ENSP00000265112:p.Pro303Thr		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.P303T	ENST00000265112.3	37	c.907	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957782	0.92726	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.50277	0.75;0.75;0.75	5.7	5.7	0.88788	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.998;0.996	D;D;D;D	0.70487	0.931;0.959;0.969;0.931	D	0.83394	0.0019	10	0.87932	D	0	4.4309	19.8794	0.96891	0.0:1.0:0.0:0.0	.	182;336;199;303	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	T	303;303;199;336;182	ENSP00000424387:P303T;ENSP00000265112:P303T;ENSP00000387710:P336T	ENSP00000265112:P303T	P	+	1	0	TARS	33493188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.807000	0.86032	2.703000	0.92315	0.650000	0.86243	CCA	TARS	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa	ENSG00000113407		0.403	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	-	0	57	0	C	NM_152295		33457431	1	tier1	-	no_errors	ENST00000265112	ensembl	human	known	74_37	missense	56.25	14	18	SNP	1.000	A	A	33457431	C	A	33457431	3	1	117	1	0	0	0	0	1	0	0	0	15606	623	22	3	941	3	TARS	5	33457431	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	8969362	33457431	147457829	61	31087											
POU5F2	134187	genome.wustl.edu	37	chr5	93076323	93076323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagtggtggctggggcagagGagtgggctacccctgcagag	7	6	20	8	0	0	2	0	0	0	2	0	4	0	3	2	6	2	4	2	6	1	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr5:93076323G>A	ENST00000510627.4	-	1	1020	c.947C>T	c.(946-948)tCc>tTc	p.S316F	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	316					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)		TGGGGCAGAGGAGTGGGCTAC	0.612																																																	0													37	40	39					5																	93076323		1875	4101	5976	SO:0001583	missense	0				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.947C>T	5.37:g.93076323G>A	ENSP00000464890:p.Ser316Phe		Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.S316F	ENST00000510627.4	37	c.947	CCDS59489.1	5																																																																																			POU5F2	-	NULL	ENSG00000248483		0.612	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	-	0	27	0	G	NM_153216		93076323	-1	tier1	-	no_errors	ENST00000510627	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.000	A	A	93076323	G	A	93076323	3	1	117	1	0	0	0	0	1	0	0	0	12322	1174	41	3	43	3	POU5F2	5	93076323	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	59618892	93076323	87838937	62	31088											
NDST1	3340	genome.wustl.edu	37	chr5	149901145	149901145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggagtccagccgcttcaAataccgcacagagattgcgc	10	7	10	14	3	1	1	1	0	0	1	2	3	2	2	4	1	3	2	4	1	2	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr5:149901145A>G	ENST00000261797.6	+	2	831	c.329A>G	c.(328-330)aAa>aGa	p.K110R	NDST1_ENST00000523767.1_Missense_Mutation_p.K110R	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	110	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCGCTTCAAATACCGCACA	0.607																																																	0													80	90	87					5																	149901145		2203	4300	6503	SO:0001583	missense	0			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.329A>G	5.37:g.149901145A>G	ENSP00000261797:p.Lys110Arg		Q96E57	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.K110R	ENST00000261797.6	37	c.329	CCDS34277.1	5	.	.	.	.	.	.	.	.	.	.	A	10.30	1.313116	0.23908	.	.	ENSG00000070614	ENST00000519157;ENST00000523767;ENST00000261797	T;T;T	0.44881	0.91;0.91;1.24	5.11	5.11	0.69529	.	0.108239	0.64402	D	0.000006	T	0.19208	0.0461	N	0.02658	-0.545	0.42872	D	0.994147	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.006;0.004;0.006	T	0.12293	-1.0553	10	0.10636	T	0.68	.	15.2178	0.73285	1.0:0.0:0.0:0.0	.	110;110;110	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	R	110	ENSP00000427813:K110R;ENSP00000428604:K110R;ENSP00000261797:K110R	ENSP00000261797:K110R	K	+	2	0	NDST1	149881338	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.988000	0.49386	2.052000	0.61016	0.533000	0.62120	AAA	NDST1	-	pfam_Heparan_SO4_deacetylase	ENSG00000070614		0.607	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	-	0	77	0	A	NM_001543		149901145	1	tier1	-	no_errors	ENST00000261797	ensembl	human	known	74_37	missense	55.00	18	22	SNP	1.000	G	G	149901145	A	G	149901145	3	3	117	1	0	0	0	0	1	0	0	0	10294	14	1	4	331	4	NDST1	5	149901145	Missense_Mutation	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09	56824822	149901145	31014115	63	31089											
DCDC2	51473	genome.wustl.edu	37	chr6	24178761	24178761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctccctacctccttcctCttcaaggtcaccattcattc	7	13	3	18	0	4	0	3	0	1	0	8	0	7	0	6	1	2	0	6	1	2	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:24178761C>T	ENST00000378454.3	-	9	1424	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	DCDC2_ENST00000378450.3_Missense_Mutation_p.E128K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	375					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTCCTTCCTCTTCAAGGTCA	0.512																																																	0													233	196	208					6																	24178761		2203	4300	6503	SO:0001583	missense	0			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.1123G>A	6.37:g.24178761C>T	ENSP00000367715:p.Glu375Lys		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E375K	ENST00000378454.3	37	c.1123	CCDS4550.1	6	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511286	0.44660	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.51574	4.24;0.7	5.36	4.48	0.54585	.	0.370316	0.28665	N	0.014549	T	0.16642	0.0400	N	0.24115	0.695	0.26012	N	0.981975	B;B	0.32829	0.099;0.386	B;B	0.34242	0.025;0.178	T	0.09465	-1.0673	10	0.25106	T	0.35	-0.7659	12.357	0.55182	0.0:0.8302:0.1698:0.0	.	375;128	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	K	375;128	ENSP00000367715:E375K;ENSP00000367711:E128K	ENSP00000367711:E128K	E	-	1	0	DCDC2	24286740	0.848000	0.29623	0.565000	0.28409	0.583000	0.36354	2.466000	0.45084	1.354000	0.45846	0.655000	0.94253	GAG	DCDC2	-	NULL	ENSG00000146038		0.512	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2	HGNC	protein_coding	OTTHUMT00000043604.1	-	0	61	0	C	NM_016356		24178761	-1	tier1	-	no_errors	ENST00000378454	ensembl	human	known	74_37	missense	35.29	44	24	SNP	0.736	T	T	24178761	C	T	24178761	3	4	117	1	0	0	0	0	1	0	0	0	4294	922	32	3	315	3	DCDC2	6	24178761	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09		24178761	146936306	64	31090											
OR14J1	442191	genome.wustl.edu	37	chr6	29274876	29274876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagactattatggatccccGtgcctgtaggcatgcagtga	9	11	12	9	1	0	2	0	2	0	1	1	4	1	3	3	2	2	3	3	2	3	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:29274876G>A	ENST00000377160.2	+	1	474	c.410G>A	c.(409-411)cGt>cAt	p.R137H		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	137						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)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATGGATCCCCGTGCCTGTAGG	0.507																																																	0													135	136	136					6																	29274876		1511	2708	4219	SO:0001583	missense	0				CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"GPCR / Class A : Olfactory receptors"	13971	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily U, member 1"	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.410G>A	6.37:g.29274876G>A	ENSP00000366365:p.Arg137His		A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R137H	ENST00000377160.2	37	c.410	CCDS34362.1	6	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917037	0.33815	.	.	ENSG00000204695	ENST00000377160	T	0.42513	0.97	4.86	-5.44	0.02624	GPCR, rhodopsin-like superfamily (1);	1.815480	0.03332	N	0.193518	T	0.16300	0.0392	L	0.59912	1.85	0.09310	N	1	B	0.19073	0.033	B	0.14023	0.01	T	0.17623	-1.0363	10	0.25106	T	0.35	.	9.8133	0.40838	0.7007:0.118:0.1814:0.0	.	137	Q9UGF5	O14J1_HUMAN	H	137	ENSP00000366365:R137H	ENSP00000366365:R137H	R	+	2	0	OR14J1	29382855	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-3.409000	0.00481	-1.007000	0.03408	-0.157000	0.13467	CGT	OR14J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000204695		0.507	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14J1	HGNC	protein_coding	OTTHUMT00000076362.2	-	0	50	0	G			29274876	1	tier1	-	no_errors	ENST00000377160	ensembl	human	known	74_37	missense	37.66	47	29	SNP	0.000	A	A	29274876	G	A	29274876	3	1	117	1	0	0	0	0	1	0	0	0	10987	1145	40	1	412	1	OR14J1	6	29274876	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	5096115	29274876	141840191	65	31091											
RPP21	79897	genome.wustl.edu	37	chr6	30312963	30312963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggtgatggcggggccggtGaaggaccgcgaggccttcca	6	5	19	11	5	0	2	0	2	0	0	1	4	1	3	4	7	0	0	4	7	1	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:30312963G>A	ENST00000442966.2	+	1	28	c.15G>A	c.(13-15)gtG>gtA	p.V5V	RPP21_ENST00000433076.2_Silent_p.V5V|RPP21_ENST00000466327.1_3'UTR|TRIM39-RPP21_ENST00000513556.1_Intron|RPP21_ENST00000428040.2_Silent_p.V5V|RPP21_ENST00000436442.2_Silent_p.V5V			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	5					response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						CGGGGCCGGTGAAGGACCGCG	0.721																																																	0													9	13	11					6																	30312963		2171	4236	6407	SO:0001819	synonymous_variant	0			AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"chromosome 6 open reading frame 135", "ribonuclease P 21kDa subunit"	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.15G>A	6.37:g.30312963G>A			A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Silent	SNP	pfam_Rpr2	p.V5	ENST00000442966.2	37	c.15	CCDS4679.1	6																																																																																			RPP21	-	NULL	ENSG00000241370		0.721	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPP21	HGNC	protein_coding	OTTHUMT00000076451.2	-	0	64	0	G	NM_024839		30312963	1	tier1	-	no_errors	ENST00000428040	ensembl	human	known	74_37	silent	27.50	29	11	SNP	0.999	A	A	30312963	G	A	30312963	2	1	117	1	0	0	0	0	0	0	0	1	13655	1277	45	3		3	RPP21	6	30312963	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	1038087	30312963	140802104	66	31092											
CPNE5	57699	genome.wustl.edu	37	chr6	36730753	36730753	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggtaactggtggtgaactCcccaatgaagtcatggctgc	9	9	12	11	1	1	2	1	2	0	0	2	2	2	2	3	4	3	2	3	4	4	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:36730753C>A	ENST00000244751.2	-	12	1420	c.796G>T	c.(796-798)Gag>Tag	p.E266*		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	266	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						GTGGTGAACTCCCCAATGAAG	0.582																																																	0													135	109	118					6																	36730753		2203	4300	6503	SO:0001587	stop_gained	0			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.796G>T	6.37:g.36730753C>A	ENSP00000244751:p.Glu266*		Q7Z6C8	Nonsense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.E266*	ENST00000244751.2	37	c.796	CCDS4825.1	6	.	.	.	.	.	.	.	.	.	.	C	44	10.766215	0.99464	.	.	ENSG00000124772	ENST00000244751	.	.	.	5.36	5.36	0.76844	.	0.050308	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.9553	0.86257	0.0:1.0:0.0:0.0	.	.	.	.	X	266	.	ENSP00000244751:E266X	E	-	1	0	CPNE5	36838731	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	7.117000	0.77129	2.693000	0.91896	0.313000	0.20887	GAG	CPNE5	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000124772		0.582	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE5	HGNC	protein_coding	OTTHUMT00000040351.1	-	0	43	0	C	NM_020939		36730753	-1	tier1	-	no_errors	ENST00000244751	ensembl	human	known	74_37	nonsense	56.00	11	14	SNP	1.000	A	A	36730753	C	A	36730753	4	1	117	1	0	0	0	0	0	1	0	0	3822	864	30	3	1025	3	CPNE5	6	36730753	Nonsense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	6417790	36730753	134384314	67	31093											
UBR2	23304	genome.wustl.edu	37	chr6	42582821	42582821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttaaagatggccttcgccGgattttatgtcaagttggtt	9	16	10	6	2	1	1	1	0	0	1	2	2	1	2	2	3	0	2	2	3	4	7	rs146847025		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:42582821G>T	ENST00000372899.1	+	9	1256	c.998G>T	c.(997-999)cGg>cTg	p.R333L	UBR2_ENST00000372883.3_5'Flank|UBR2_ENST00000372901.1_Missense_Mutation_p.R333L|UBR2_ENST00000372903.2_Missense_Mutation_p.R333L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	333					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)			GGCCTTCGCCGGATTTTATGT	0.363																																																	0													123	124	124					6																	42582821		2203	4300	6503	SO:0001583	missense	0			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.998G>T	6.37:g.42582821G>T	ENSP00000361990:p.Arg333Leu		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R333L	ENST00000372899.1	37	c.998	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839773	0.91117	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.73152	-0.72;0.29;0.3	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50837	0.1639	L	0.28608	0.87	0.80722	D	1	B;B	0.19445	0.021;0.036	B;B	0.25291	0.026;0.059	T	0.46176	-0.9210	10	0.25751	T	0.34	-14.1051	20.0804	0.97772	0.0:0.0:1.0:0.0	.	333;333	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	L	333	ENSP00000361994:R333L;ENSP00000361990:R333L;ENSP00000361992:R333L	ENSP00000361990:R333L	R	+	2	0	UBR2	42690799	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.738000	0.93877	0.655000	0.94253	CGG	UBR2	-	NULL	ENSG00000024048		0.363	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2		0	36	0	G	NM_015255		42582821	1			no_errors	ENST00000372899	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	T	T	42582821	G	T	42582821	3	4	117	1	0	0	0	0	1	0	0	0	16951	1116	39	2	1032	2	UBR2	6	42582821	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	5852068	42582821	128532246	68	31094											
GPR111	222611	genome.wustl.edu	37	chr6	47647898	47647898	+	Frame_Shift_Del	DEL	A	A	-																															cataacagatatgttgctacAaaagtgtcccacagatctgt																								rs200398248		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:47647898delA	ENST00000296862.1	+	5	563	c.563delA	c.(562-564)caafs	p.Q188fs	GPR111_ENST00000507065.1_Frame_Shift_Del_p.Q120fs|GPR111_ENST00000398742.2_Frame_Shift_Del_p.Q120fs			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	188					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ATGTTGCTACAAAAGTGTCCC	0.378																																																	0													104	97	99					6																	47647898		1864	4105	5969	SO:0001589	frameshift_variant	0			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.563delA	6.37:g.47647898delA	ENSP00000296862:p.Gln188fs		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.K189fs	ENST00000296862.1	37	c.563		6																																																																																			GPR111	-	NULL	ENSG00000164393		0.378	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2		0	36	0	A	NM_153839		47647898	1	tier1		no_errors	ENST00000296862	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.000	-	-	47647898	A	-	47647898	7	5	117	1	0	1	0	1	0	0	0	0	6654	130	5	0	373	0	GPR111	6	47647898	Frame_Shift_Del	DEL	A	TCGA-LN-A4A8-01A-32D-A27G-09	5065077	47647898	123467169	69	31095											
PKHD1	5314	genome.wustl.edu	37	chr6	51893109	51893109	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacatccaaatccgtataGttcatcagcctcgccactcc	10	10	4	17	2	2	0	2	0	0	0	7	0	6	0	6	0	1	2	6	0	3	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:51893109G>C	ENST00000371117.3	-	30	3680	c.3405C>G	c.(3403-3405)aaC>aaG	p.N1135K	PKHD1_ENST00000340994.4_Missense_Mutation_p.N1135K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1135	IPT/TIG 6; atypical.				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)					AATCCGTATAGTTCATCAGCC	0.567																																																	0													92	94	94					6																	51893109		2203	4300	6503	SO:0001583	missense	0			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.3405C>G	6.37:g.51893109G>C	ENSP00000360158:p.Asn1135Lys		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.N1135K	ENST00000371117.3	37	c.3405	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967866	0.53507	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87729	-2.1;-2.29	5.7	0.543	0.17179	Cell surface receptor IPT/TIG (1);	0.524824	0.21348	N	0.076014	T	0.76463	0.3991	M	0.69823	2.125	0.09310	N	1	P;P	0.44044	0.825;0.799	P;B	0.44477	0.451;0.276	T	0.68561	-0.5376	10	0.45353	T	0.12	.	5.6918	0.17833	0.2956:0.1308:0.5736:0.0	.	1135;1135	P08F94-2;P08F94	.;PKHD1_HUMAN	K	1135	ENSP00000360158:N1135K;ENSP00000341097:N1135K	ENSP00000341097:N1135K	N	-	3	2	PKHD1	52001068	0.000000	0.05858	0.006000	0.13384	0.028000	0.11728	0.523000	0.22925	0.346000	0.23899	0.655000	0.94253	AAC	PKHD1	-	superfamily_Ig_E-set,smart_IPT	ENSG00000170927		0.567	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1		0	43	0	G	NM_138694		51893109	-1			no_errors	ENST00000371117	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.003	C	C	51893109	G	C	51893109	3	2	117	1	0	0	0	0	1	0	0	0	12010	1020	36	5	9010	5	PKHD1	6	51893109	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	4245211	51893109	119221958	70	31096											
GRIK2	2898	genome.wustl.edu	37	chr6	102376504	102376504	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgcaaccatgacttttttCaaggtaagttctgctggtta	9	15	10	7	0	2	1	1	1	1	0	2	1	2	1	1	3	3	5	1	3	4	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:102376504C>G	ENST00000421544.1	+	13	2572	c.2082C>G	c.(2080-2082)ttC>ttG	p.F694L	GRIK2_ENST00000413795.1_Missense_Mutation_p.F694L|GRIK2_ENST00000369138.1_Missense_Mutation_p.F694L|GRIK2_ENST00000369134.4_Missense_Mutation_p.F645L|GRIK2_ENST00000369137.3_Missense_Mutation_p.F618L|GRIK2_ENST00000318991.6_Missense_Mutation_p.F694L	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	694					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)	TGACTTTTTTCAAGGTAAGTT	0.373																																																	0													69	66	67					6																	102376504		2203	4300	6503	SO:0001583	missense	0				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.2082C>G	6.37:g.102376504C>G	ENSP00000397026:p.Phe694Leu		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F694L	ENST00000421544.1	37	c.2082	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197532	0.58126	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134	T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02	5.9	3.79	0.43588	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.16599	0.0399	M	0.76328	2.33	0.43766	D	0.996287	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.00626	-1.1638	10	0.87932	D	0	.	9.5959	0.39573	0.0:0.6931:0.0:0.3069	.	694;694;694	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	L	694;694;694;618;694;645	ENSP00000397026:F694L;ENSP00000405596:F694L;ENSP00000358134:F694L;ENSP00000358133:F618L;ENSP00000313276:F694L;ENSP00000358130:F645L	ENSP00000313276:F694L	F	+	3	2	GRIK2	102483197	0.994000	0.37717	1.000000	0.80357	0.969000	0.65631	0.444000	0.21661	1.465000	0.48006	0.563000	0.77884	TTC	GRIK2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000164418		0.373	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	-	0	25	0	C			102376504	1	tier1	-	no_errors	ENST00000421544	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	G	G	102376504	C	G	102376504	3	3	117	1	0	0	0	0	1	0	0	0	6801	825	29	5	2132	5	GRIK2	6	102376504	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	50483395	102376504	68738563	71	31097											
GJA1	2697	genome.wustl.edu	37	chr6	121768356	121768356	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgcccaaactgatggtgtCaatgtggacatgcacttgaa	11	11	11	8	0	1	2	1	2	0	0	1	3	1	3	1	2	3	2	1	2	3	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:121768356C>T	ENST00000282561.3	+	2	520	c.363C>T	c.(361-363)gtC>gtT	p.V121V		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	121					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)	CTGATGGTGTCAATGTGGACA	0.453																																																	0													124	114	118					6																	121768356		2203	4300	6503	SO:0001819	synonymous_variant	0			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.363C>T	6.37:g.121768356C>T			B2R5U9|Q6FHU1|Q9Y5I8	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.V121	ENST00000282561.3	37	c.363	CCDS5123.1	6																																																																																			GJA1	-	NULL	ENSG00000152661		0.453	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	-	0	62	0	C	NM_000165		121768356	1	tier1	-	no_errors	ENST00000282561	ensembl	human	known	74_37	silent	35.62	47	26	SNP	0.265	T	T	121768356	C	T	121768356	2	4	117	1	0	0	0	0	0	0	0	1	6426	813	29	3		3	GJA1	6	121768356	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	19391852	121768356	49346711	72	31098											
LAMA2	3908	genome.wustl.edu	37	chr6	129636761	129636761	+	Frame_Shift_Del	DEL	T	T	-																															gaagatctccatttggaaccTttttattggaaacttccaga																										TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:129636761delT	ENST00000421865.2	+	25	3745	c.3696delT	c.(3694-3696)cctfs	p.P1232fs		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1232	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTTGGAACCTTTTTATTGGA	0.398																																																	0													119	113	115					6																	129636761		2203	4300	6503	SO:0001589	frameshift_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3696delT	6.37:g.129636761delT	ENSP00000400365:p.Pro1232fs		Q14736|Q5VUM2|Q93022	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Y1234fs	ENST00000421865.2	37	c.3696	CCDS5138.1	6																																																																																			LAMA2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000196569		0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1		0	39	0	T			129636761	1	tier1		no_errors	ENST00000421865	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	0.997	-	-	129636761	T	-	129636761	7	5	117	1	0	1	0	1	0	0	0	0	8634	1596	56	0	3794	0	LAMA2	6	129636761	Frame_Shift_Del	DEL	T	TCGA-LN-A4A8-01A-32D-A27G-09	7868405	129636761	41478306	73	31099											
KIAA1244	57221	genome.wustl.edu	37	chr6	138607140	138607140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgatggcctcggctgctaCagagtctcctttcgcccaga	6	10	11	14	2	1	3	0	1	1	2	4	3	1	3	3	2	2	3	3	2	1	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:138607140C>G	ENST00000251691.4	+	15	2685	c.2519C>G	c.(2518-2520)aCa>aGa	p.T840R		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)		TCGGCTGCTACAGAGTCTCCT	0.463																																																	0													87	82	83					6																	138607140		2203	4300	6503	SO:0001583	missense	0			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.2519C>G	6.37:g.138607140C>G	ENSP00000251691:p.Thr840Arg			Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.T840R	ENST00000251691.4	37	c.2519	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	C	6.644	0.487228	0.12641	.	.	ENSG00000112379	ENST00000251691	T	0.16743	2.32	5.3	2.96	0.34315	.	0.923508	0.09438	N	0.802184	T	0.03263	0.0095	N	0.19112	0.55	0.09310	N	1	B	0.18166	0.026	B	0.20184	0.028	T	0.46978	-0.9152	10	0.14656	T	0.56	-27.2306	9.8371	0.40975	0.0:0.7952:0.0:0.2048	.	840	Q5TH69	BIG3_HUMAN	R	840	ENSP00000251691:T840R	ENSP00000251691:T840R	T	+	2	0	KIAA1244	138648833	0.006000	0.16342	0.028000	0.17463	0.768000	0.43524	1.843000	0.39259	0.467000	0.27218	0.655000	0.94253	ACA	KIAA1244	-	superfamily_ARM-type_fold	ENSG00000112379		0.463	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	-	0	43	0	C	NM_020340		138607140	1	tier1	-	no_errors	ENST00000251691	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.031	G	G	138607140	C	G	138607140	3	3	117	1	0	0	0	0	1	0	0	0	8244	478	17	5	2577	5	KIAA1244	6	138607140	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	8970379	138607140	32507927	74	31100											
REPS1	85021	genome.wustl.edu	37	chr6	139238693	139238693	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgacagaaatactgaccTttgacgagttacattgctcc	12	12	7	10	1	0	4	0	3	0	1	1	5	1	4	2	0	3	2	2	0	3	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:139238693T>C	ENST00000450536.2	-	13	2174	c.1600A>G	c.(1600-1602)Agg>Ggg	p.R534G	REPS1_ENST00000415951.2_Splice_Site_p.R507G|REPS1_ENST00000367663.4_Splice_Site_p.R507G|REPS1_ENST00000258062.5_Splice_Site_p.R533G|REPS1_ENST00000409812.2_Intron			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	534					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)		AATACTGACCTTTGACGAGTT	0.348																																																	0													125	116	119					6																	139238693		2203	4300	6503	SO:0001630	splice_region_variant	0				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.1601+1A>G	6.37:g.139238693T>C			B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.R534G	ENST00000450536.2	37	c.1600		6	.	.	.	.	.	.	.	.	.	.	T	20.3	3.965824	0.74131	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T	0.36699	1.24;1.25;1.28;1.26;1.26	5.27	4.07	0.47477	.	0.044908	0.85682	D	0.000000	T	0.45617	0.1351	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.67145	0.996;0.994;0.993;0.981	D;D;D;D	0.77557	0.99;0.983;0.977;0.966	T	0.39313	-0.9620	10	0.35671	T	0.21	-9.8327	9.7004	0.40182	0.0:0.0:0.3218:0.6782	.	533;482;534;507	Q96D71-3;B2R7D3;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	G	534;507;492;533;507;482	ENSP00000392065:R534G;ENSP00000356635:R507G;ENSP00000434251:R492G;ENSP00000258062:R533G;ENSP00000397941:R507G	ENSP00000258062:R533G	R	-	1	2	REPS1	139280386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.201000	0.58439	2.116000	0.64780	0.460000	0.39030	AGG	REPS1	-	NULL	ENSG00000135597		0.348	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	HGNC	protein_coding	OTTHUMT00000042447.3	-	0	56	0	T		Missense_Mutation	139238693	-1	tier1	-	no_errors	ENST00000450536	ensembl	human	known	74_37	missense	42.65	39	29	SNP	1.000	C	C	139238693	T	C	139238693	5	2	117	1	0	0	0	0	0	0	1	0	13273	1623	56	4	822	4	REPS1	6	139238693	Splice_Site	SNP	T	TCGA-LN-A4A8-01A-32D-A27G-09	631553	139238693	31876374	75	31101											
CITED2	10370	genome.wustl.edu	37	chr6	139694904	139694904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgtggcattcatgttgcccgCgccgtagtgtatgtgctcgc	4	12	13	12	5	1	0	1	0	0	0	2	0	1	0	2	1	2	5	2	1	2	4			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:139694904C>T	ENST00000367651.2	-	2	393	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	CITED2_ENST00000536159.1_Missense_Mutation_p.A60T|CITED2_ENST00000537332.1_Missense_Mutation_p.A60T	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	60					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)		ATGTTGCCCGCGCCGTAGTGT	0.692																																					NSCLC(98;1219 1550 33720 43229 49330)												0													43	42	42					6																	139694904		2203	4300	6503	SO:0001583	missense	0			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.178G>A	6.37:g.139694904C>T	ENSP00000356623:p.Ala60Thr		O95426|Q5VTF4	Missense_Mutation	SNP	pfam_CITED	p.A60T	ENST00000367651.2	37	c.178	CCDS5195.1	6	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587252	0.28268	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.63744	-0.06;-0.06;-0.06	4.22	4.22	0.49857	.	0.196102	0.33290	N	0.005062	T	0.33294	0.0858	L	0.29908	0.895	0.30553	N	0.76531	P	0.51653	0.947	B	0.40702	0.338	T	0.18116	-1.0347	9	.	.	.	-3.7391	13.0111	0.58731	0.0:0.8378:0.1622:0.0	.	60	Q99967	CITE2_HUMAN	T	60	ENSP00000356623:A60T;ENSP00000442831:A60T;ENSP00000444198:A60T	.	A	-	1	0	CITED2	139736597	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.514000	0.35834	2.377000	0.81083	0.456000	0.33151	GCG	CITED2	-	pfam_CITED	ENSG00000164442		0.692	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CITED2	HGNC	protein_coding	OTTHUMT00000042463.1	-	0	64	0	C			139694904	-1	tier1	-	no_errors	ENST00000367651	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	139694904	C	T	139694904	3	4	117	1	0	0	0	0	1	0	0	0	3447	768	27	1	638	1	CITED2	6	139694904	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	456211	139694904	31420163	76	31102											
NOX3	50508	genome.wustl.edu	37	chr6	155764431	155764431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaaggtccggacagggttGaggtagctctcgttaggggt	7	9	19	6	2	1	1	0	1	1	0	3	3	2	3	1	7	1	4	1	7	3	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:155764431G>A	ENST00000159060.2	-	5	564	c.462C>T	c.(460-462)ctC>ctT	p.L154L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	154	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)		GGACAGGGTTGAGGTAGCTCT	0.552																																																	0													118	99	105					6																	155764431		2203	4300	6503	SO:0001819	synonymous_variant	0			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.462C>T	6.37:g.155764431G>A			Q9HBJ9	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.L154	ENST00000159060.2	37	c.462	CCDS5250.1	6																																																																																			NOX3	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000074771		0.552	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1		0	43	0	G			155764431	-1			no_errors	ENST00000159060	ensembl	human	known	74_37	silent	8.11	34	3	SNP	1.000	A	A	155764431	G	A	155764431	2	1	117	1	0	0	0	0	0	0	0	1	10596	1277	45	3		3	NOX3	6	155764431	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	16069527	155764431	15350636	77	31103											
TAGAP	117289	genome.wustl.edu	37	chr6	159461856	159461856	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttccgggggatacttctGaggaagtcctgggggatgag	8	9	17	7	1	1	2	0	2	1	0	3	5	3	5	2	5	2	1	2	5	2	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr6:159461856G>T	ENST00000367066.3	-	7	817	c.486C>A	c.(484-486)ctC>ctA	p.L162L	RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000338313.5_Silent_p.L162L|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	162	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)	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)		GGATACTTCTGAGGAAGTCCT	0.542																																																	0													72	68	69					6																	159461856		2203	4300	6503	SO:0001819	synonymous_variant	0			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.486C>A	6.37:g.159461856G>T			Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L162	ENST00000367066.3	37	c.486	CCDS5261.1	6																																																																																			TAGAP	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000164691		0.542	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	-	0	70	0	G	NM_054114		159461856	-1	tier1	-	no_errors	ENST00000367066	ensembl	human	known	74_37	silent	6.45	58	4	SNP	1.000	T	T	159461856	G	T	159461856	2	4	117	1	0	0	0	0	0	0	0	1	15584	1277	45	3		3	TAGAP	6	159461856	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	3697425	159461856	11653211	78	31104											
CACNA2D1	781	genome.wustl.edu	37	chr7	81714152	81714152	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatgaagggtcttcctcGcgattctttttgaaaacttc	11	15	7	8	2	2	2	0	2	2	0	5	3	3	2	1	1	1	0	1	1	5	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr7:81714152G>T	ENST00000356253.5	-	7	846	c.591C>A	c.(589-591)cgC>cgA	p.R197R	CACNA2D1_ENST00000356860.3_Silent_p.R197R|CACNA2D1_ENST00000423588.1_Silent_p.R197R			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	197					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)	GGTCTTCCTCGCGATTCTTTT	0.378																																																	0													111	108	109					7																	81714152		2203	4300	6503	SO:0001819	synonymous_variant	0			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.591C>A	7.37:g.81714152G>T			Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R197	ENST00000356253.5	37	c.591		7																																																																																			CACNA2D1	-	pfam_VWA_N	ENSG00000153956		0.378	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0	34	0	G			81714152	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.949	T	T	81714152	G	T	81714152	2	4	117	1	0	0	0	0	0	0	0	1	2555	1074	38	2		2	CACNA2D1	7	81714152	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09		81714152	77424511	79	31105											
CACNA2D1	781	genome.wustl.edu	37	chr7	82072745	82072745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagattggaaaagtgtcaGagtcaaggccagcaggcagc	15	5	13	8	0	2	2	2	0	0	2	2	3	2	3	1	3	2	2	1	3	4	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr7:82072745G>T	ENST00000356253.5	-	1	286	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.L11M|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.L11M			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)	p.L11V(1)		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)	AAAAGTGTCAGAGTCAAGGCC	0.672																																																	1	Substitution - Missense(1)	urinary_tract(1)											48	41	43					7																	82072745		2203	4300	6503	SO:0001583	missense	0			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.31C>A	7.37:g.82072745G>T	ENSP00000348589:p.Leu11Met		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.L11M	ENST00000356253.5	37	c.31		7	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779176	0.70107	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.24538	3.17;3.16;1.85	3.86	3.86	0.44501	.	0.000000	0.28821	N	0.014031	T	0.44138	0.1279	L	0.50333	1.59	0.80722	D	1	D	0.62365	0.991	D	0.75484	0.986	T	0.35674	-0.9779	10	0.46703	T	0.11	-3.6329	14.7546	0.69554	0.0:0.0:1.0:0.0	.	11	P54289-2	.	M	11	ENSP00000349320:L11M;ENSP00000348589:L11M;ENSP00000405395:L11M	ENSP00000284088:L11M	L	-	1	2	CACNA2D1	81910681	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.350000	0.66016	1.684000	0.51022	0.313000	0.20887	CTG	CACNA2D1	-	NULL	ENSG00000153956		0.672	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding			0	38	0	G			82072745	-1			no_errors	ENST00000356253	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	82072745	G	T	82072745	3	4	117	1	0	0	0	0	1	0	0	0	2555	933	33	3	3400	3	CACNA2D1	7	82072745	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	358593	82072745	77065918	80	31106											
DLX6	1750	genome.wustl.edu	37	chr7	96635388	96635388	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagca	15	0	12	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	0	rs35692573		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr7:96635388A>G	ENST00000518156.2	+	1	529	c.99A>G	c.(97-99)caA>caG	p.Q33Q	DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					agcagcagcaacagcagcagc	0.672																																																	0													5	7	6					7																	96635388		1914	3827	5741	SO:0001819	synonymous_variant	0				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.99A>G	7.37:g.96635388A>G			A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.Q33	ENST00000518156.2	37	c.99	CCDS47647.2	7																																																																																			DLX6	-	NULL	ENSG00000006377		0.672	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLX6	HGNC	protein_coding	OTTHUMT00000334373.4	-	0	80	0	A	NM_005222		96635388	1	tier1	rs35692573	no_errors	ENST00000518156	ensembl	human	known	74_37	silent	6.02	78	5	SNP	0.996	G	G	96635388	A	G	96635388	2	3	117	1	0	0	0	0	0	0	0	1	4589	40	2	4		4	DLX6	7	96635388	Silent	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09	14562643	96635388	62503275	81	31107											
RP1L1	94137	genome.wustl.edu	37	chr8	10466069	10466069	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctctacaccttctgactCtggctgggcctccccttcag	4	11	9	17	0	4	1	1	1	3	0	5	1	5	1	5	3	1	1	5	3	1	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr8:10466069C>G	ENST00000382483.3	-	4	5762	c.5539G>C	c.(5539-5541)Gag>Cag	p.E1847Q		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1927					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)		CCTTCTGACTCTGGCTGGGCC	0.637																																																	0													159	174	170					8																	10466069		1937	4124	6061	SO:0001583	missense	0			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.5539G>C	8.37:g.10466069C>G	ENSP00000371923:p.Glu1847Gln		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E1847Q	ENST00000382483.3	37	c.5539	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325613	0.24080	.	.	ENSG00000183638	ENST00000382483	T	0.08282	3.11	3.37	1.44	0.22558	.	.	.	.	.	T	0.08846	0.0219	N	0.19112	0.55	0.09310	N	1	D	0.65815	0.995	P	0.53185	0.72	T	0.33343	-0.9872	9	0.39692	T	0.17	.	6.9964	0.24784	0.0:0.7069:0.0:0.2931	.	1847	A6NKC6	.	Q	1847	ENSP00000371923:E1847Q	ENSP00000371923:E1847Q	E	-	1	0	RP1L1	10503479	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.096000	0.11059	1.412000	0.46977	0.400000	0.26472	GAG	RP1L1	-	NULL	ENSG00000183638		0.637	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	91	0	C			10466069	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	27.69	47	18	SNP	0.001	G	G	10466069	C	G	10466069	3	3	117	1	0	0	0	0	1	0	0	0	13578	922	32	5	1667	5	RP1L1	8	10466069	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09		10466069	135897953	82	31108											
RP1L1	94137	genome.wustl.edu	37	chr8	10466966	10466966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccagcagatcattgtcctGcaggccccagcgtgctcgga	7	8	12	14	2	1	1	1	0	0	1	4	2	3	2	4	2	4	3	4	2	0	1	rs574264133		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr8:10466966G>T	ENST00000382483.3	-	4	4865	c.4642C>A	c.(4642-4644)Cag>Aag	p.Q1548K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1628					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)		TCATTGTCCTGCAGGCCCCAG	0.642													G|||	1	0.000199681	0	0	5008	,	,		17171	0.001		0	False		,,,				2504	0																0													18	21	20					8																	10466966		2120	4229	6349	SO:0001583	missense	0			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.4642C>A	8.37:g.10466966G>T	ENSP00000371923:p.Gln1548Lys		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q1548K	ENST00000382483.3	37	c.4642	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	7.656	0.684024	0.14907	.	.	ENSG00000183638	ENST00000382483	T	0.04603	3.59	5.32	3.51	0.40186	.	0.264537	0.20176	U	0.097625	T	0.03520	0.0101	L	0.32530	0.975	0.09310	N	1	P	0.39116	0.66	B	0.29785	0.107	T	0.42310	-0.9459	10	0.45353	T	0.12	-4.656	8.239	0.31650	0.0816:0.3023:0.6161:0.0	.	1548	A6NKC6	.	K	1548	ENSP00000371923:Q1548K	ENSP00000371923:Q1548K	Q	-	1	0	RP1L1	10504376	0.845000	0.29573	0.029000	0.17559	0.018000	0.09664	2.885000	0.48570	1.243000	0.43853	0.491000	0.48974	CAG	RP1L1	-	NULL	ENSG00000183638		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	48	0	G			10466966	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.005	T	T	10466966	G	T	10466966	3	4	117	1	0	0	0	0	1	0	0	0	13578	1328	46	3	2564	3	RP1L1	8	10466966	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	897	10466966	135897056	83	31109											
LZTS1	11178	genome.wustl.edu	37	chr8	20110621	20110621	+	Frame_Shift_Del	DEL	T	T	-																															gcagcttctggagggcgcccTccctctccaacagcttctgc																										TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr8:20110621delT	ENST00000381569.1	-	3	1178	c.821delA	c.(820-822)gagfs	p.E274fs	LZTS1_ENST00000265801.6_Frame_Shift_Del_p.E274fs|LZTS1_ENST00000522290.1_Frame_Shift_Del_p.E274fs			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	274					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)		GAGGGCGCCCTCCCTCTCCAA	0.662																																																	0													42	39	40					8																	20110621		2190	4290	6480	SO:0001589	frameshift_variant	0			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.821delA	8.37:g.20110621delT	ENSP00000370981:p.Glu274fs		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Frame_Shift_Del	DEL	NULL	p.E274fs	ENST00000381569.1	37	c.821	CCDS6015.1	8																																																																																			LZTS1	-	NULL	ENSG00000061337		0.662	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1		0	56	0	T	NM_021020		20110621	-1	tier1		no_errors	ENST00000265801	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	0.973	-	-	20110621	T	-	20110621	7	5	117	1	0	1	0	1	0	0	0	0	9174	1551	54	0	977	0	LZTS1	8	20110621	Frame_Shift_Del	DEL	T	TCGA-LN-A4A8-01A-32D-A27G-09	9643655	20110621	126253401	84	31110											
SNTG1	54212	genome.wustl.edu	37	chr8	51569521	51569521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaccccctccaggacaGagtgtactccccgaccttcc	9	6	8	18	1	0	2	0	0	0	2	3	4	3	3	7	1	1	2	7	1	2	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr8:51569521G>T	ENST00000522124.1	+	14	1563	c.902G>T	c.(901-903)aGa>aTa	p.R301I	SNTG1_ENST00000517473.1_Missense_Mutation_p.R301I|SNTG1_ENST00000518864.1_Missense_Mutation_p.R301I|SNTG1_ENST00000276467.5_Missense_Mutation_p.R301I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	301	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTCCAGGACAGAGTGTACTCC	0.473																																																	0													104	99	101					8																	51569521		2203	4300	6503	SO:0001583	missense	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.902G>T	8.37:g.51569521G>T	ENSP00000429842:p.Arg301Ile		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.R301I	ENST00000522124.1	37	c.902	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	9.660	1.143831	0.21205	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.01	3.21	0.36854	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.195414	0.46442	D	0.000288	T	0.31231	0.0790	L	0.47716	1.5	0.25442	N	0.988083	P;P	0.41313	0.745;0.664	P;B	0.45971	0.499;0.168	T	0.13045	-1.0524	10	0.72032	D	0.01	-1.107	7.3618	0.26750	0.2014:0.0:0.7986:0.0	.	301;301	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	301	ENSP00000429276:R301I;ENSP00000429842:R301I;ENSP00000431123:R301I;ENSP00000276467:R301I	ENSP00000276467:R301I	R	+	2	0	SNTG1	51732074	0.714000	0.27936	0.001000	0.08648	0.015000	0.08874	4.155000	0.58131	0.514000	0.28300	0.591000	0.81541	AGA	SNTG1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000147481		0.473	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	-	0	36	0	G			51569521	1	tier1	-	no_errors	ENST00000518864	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.009	T	T	51569521	G	T	51569521	3	4	117	1	0	0	0	0	1	0	0	0	14919	942	33	3	948	3	SNTG1	8	51569521	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	31458900	51569521	94794501	85	31111											
RNF139	83940	genome.wustl.edu	37	chr8	125498688	125498688	+	IGR	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaatgaaactgattccttCtttatttcttgggatgattt	10	18	7	6	0	2	3	0	3	2	0	3	4	3	4	1	1	1	1	1	1	3	7			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr8:125498688C>T	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Silent_p.F266F|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)	p.F266F(1)		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)			CTGATTCCTTCTTTATTTCTT	0.393																																																	1	Substitution - coding silent(1)	lung(1)											142	127	132					8																	125498688		2203	4300	6503	SO:0001628	intergenic_variant	0			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498688C>T			B2R5J0|Q8TD02|Q9BY40	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.F266	ENST00000276692.6	37	c.798	CCDS6351.1	8																																																																																			RNF139	-	NULL	ENSG00000170881		0.393	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF139	HGNC	protein_coding	OTTHUMT00000381655.1	-	0	18	0	C	NM_032026		125498688	1	tier1	-	no_errors	ENST00000303545	ensembl	human	known	74_37	silent	39.13	14	9	SNP	0.988	T	T	125498688	C	T	125498688	1	4	117	0	1	0	0	0	0	0	0	0	13487	912	32	3		3	RNF139	8	125498688	IGR	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	73929167	125498688	20865334	86	31112											
KIAA0196	9897	genome.wustl.edu	37	chr8	126062872	126062872	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acgcgcttcacaagctctttCcttattccatcttccagcaa	9	13	4	15	2	3	0	1	0	2	0	6	0	6	0	3	0	2	3	3	0	3	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr8:126062872C>G	ENST00000318410.7	-	18	2482	c.2133G>C	c.(2131-2133)agG>agC	p.R711S	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R563S	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	711					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAAGCTCTTTCCTTATTCCAT	0.468																																																	0													144	128	133					8																	126062872		2203	4300	6503	SO:0001583	missense	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2133G>C	8.37:g.126062872C>G	ENSP00000318016:p.Arg711Ser		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.R711S	ENST00000318410.7	37	c.2133	CCDS6355.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.362025|4.362025	0.82353|0.82353	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000523273|ENST00000318410;ENST00000517845	.|D;D	.|0.89875	.|-2.58;-2.58	5.3|5.3	3.5|3.5	0.40072|0.40072	.|.	.|0.041017	.|0.85682	.|D	.|0.000000	D|D	0.94584|0.94584	0.8255|0.8255	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	.|D;B	.|0.89917	.|1.0;0.258	.|D;B	.|0.91635	.|0.999;0.098	D|D	0.94385|0.94385	0.7608|0.7608	5|10	.|0.72032	.|D	.|0.01	-16.5532|-16.5532	11.8225|11.8225	0.52247|0.52247	0.0:0.8571:0.0:0.1429|0.0:0.8571:0.0:0.1429	.|.	.|563;711	.|E7EQI7;Q12768	.|.;STRUM_HUMAN	A|S	328|711;563	.|ENSP00000318016:R711S;ENSP00000429676:R563S	.|ENSP00000318016:R711S	G|R	-|-	2|3	0|2	KIAA0196|KIAA0196	126132054|126132054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	4.876000|4.876000	0.63079|0.63079	0.733000|0.733000	0.32492|0.32492	0.655000|0.655000	0.94253|0.94253	GGA|AGG	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.468	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	-	0	32	0	C	NM_014846		126062872	-1	tier1	-	no_errors	ENST00000318410	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	G	G	126062872	C	G	126062872	3	3	117	1	0	0	0	0	1	0	0	0	8188	854	30	5	1394	5	KIAA0196	8	126062872	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	564184	126062872	20301150	87	31113											
C9orf150	286343	genome.wustl.edu	37	chr9	12775744	12775744	+	Missense_Mutation	SNP	A	A	T	1	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	agcccgctgccagacctcagAgacatcgagctgaagctggg	10	5	13	13	2	1	3	1	1	0	2	2	5	1	3	3	1	4	3	3	1	1	0			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr9:12775744A>T	ENST00000319264.3	+	1	725	c.30A>T	c.(28-30)agA>agT	p.R10S	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	10																	CAGACCTCAGAGACATCGAGC	0.592																																																	0													23	25	24					9																	12775744		2203	4300	6503	SO:0001583	missense	0			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.30A>T	9.37:g.12775744A>T	ENSP00000321026:p.Arg10Ser		Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	NULL	p.R10S	ENST00000319264.3	37	c.30	CCDS6473.1	9	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308464	0.60305	.	.	ENSG00000153714	ENST00000319264	T	0.52983	0.64	5.65	3.25	0.37280	.	0.176884	0.36134	N	0.002766	T	0.32734	0.0839	L	0.46157	1.445	0.39187	D	0.962898	P	0.40731	0.728	B	0.33521	0.165	T	0.21724	-1.0237	10	0.87932	D	0	-1.7808	3.9126	0.09210	0.5948:0.1801:0.2251:0.0	.	10	Q8IV03	CI150_HUMAN	S	10	ENSP00000321026:R10S	ENSP00000321026:R10S	R	+	3	2	C9orf150	12765744	0.993000	0.37304	1.000000	0.80357	0.985000	0.73830	0.116000	0.15561	0.392000	0.25172	-0.366000	0.07423	AGA	LURAP1L	-	NULL	ENSG00000153714		0.592	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LURAP1L	HGNC	protein_coding	OTTHUMT00000051730.1	-	0	81	0	A	NM_203403		12775744	1	tier1	-	no_errors	ENST00000319264	ensembl	human	known	74_37	missense	59.62	21	31	SNP	1.000	T	T	12775744	A	T	12775744	3	4	117	1	0	0	0	0	1	0	0	0	2469	301	11	5	32	5	C9orf150	9	12775744	Missense_Mutation	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09		12775744	128437687	88	31114											
PRSS3	5646	genome.wustl.edu	37	chr9	33797844	33797844	+	Missense_Mutation	SNP	T	T	A	0	1	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	cagccgcatccaggtgagacTgggagagcacaacatcaaag	14	4	12	11	1	1	2	1	1	0	2	2	4	2	2	2	2	3	2	2	2	2	0			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr9:33797844T>A	ENST00000361005.5	+	3	389	c.389T>A	c.(388-390)cTg>cAg	p.L130Q	PRSS3_ENST00000342836.4_Missense_Mutation_p.L87Q|PRSS3_ENST00000379405.3_Missense_Mutation_p.L73Q|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.L66Q	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	130	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)			CAGGTGAGACTGGGAGAGCAC	0.577																																																	0													131	118	122					9																	33797844		2203	4300	6503	SO:0001583	missense	0				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.389T>A	9.37:g.33797844T>A	ENSP00000354280:p.Leu130Gln		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L130Q	ENST00000361005.5	37	c.389	CCDS47958.1	9	.	.	.	.	.	.	.	.	.	.	T	15.10	2.731939	0.48939	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	3.62	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96473	0.8849	H	0.96691	3.865	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96539	0.9399	10	0.87932	D	0	.	10.4595	0.44570	0.0:0.0:0.0:1.0	.	73;130;87	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	Q	130;85;87;66;73	ENSP00000354280:L130Q;ENSP00000401249:L85Q;ENSP00000340889:L87Q;ENSP00000401828:L66Q;ENSP00000368715:L73Q	ENSP00000340889:L87Q	L	+	2	0	PRSS3	33787844	1.000000	0.71417	0.996000	0.52242	0.150000	0.21749	7.105000	0.77031	1.420000	0.47138	0.260000	0.18958	CTG	PRSS3	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000010438		0.577	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1	-	0	88	0	T	NM_002771		33797844	1	tier1	-	no_errors	ENST00000361005	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	A	A	33797844	T	A	33797844	3	1	117	1	0	0	0	0	1	0	0	0	12664	1580	55	5	443	5	PRSS3	9	33797844	Missense_Mutation	SNP	T	TCGA-LN-A4A8-01A-32D-A27G-09	21022100	33797844	107415587	89	31115											
ZNF169	169841	genome.wustl.edu	37	chr9	97062537	97062537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgttcagccaccagaagCatcatgtgtgccctgaatgc	9	9	10	13	0	2	2	2	1	0	1	2	2	2	2	4	0	4	2	4	0	2	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr9:97062537C>A	ENST00000395395.2	+	5	787	c.697C>A	c.(697-699)Cat>Aat	p.H233N	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CCACCAGAAGCATCATGTGTG	0.502																																																	0													67	62	64					9																	97062537		2203	4300	6503	SO:0001583	missense	0			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.697C>A	9.37:g.97062537C>A	ENSP00000378792:p.His233Asn		A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H233N	ENST00000395395.2	37	c.697	CCDS6709.2	9	.	.	.	.	.	.	.	.	.	.	C	9.284	1.048775	0.19827	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.27720	1.65	2.59	2.59	0.31030	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20251	0.0487	N	0.14661	0.345	0.80722	D	1	P	0.38711	0.643	B	0.39660	0.306	T	0.15636	-1.0430	9	0.87932	D	0	.	11.351	0.49587	0.0:1.0:0.0:0.0	.	233	Q14929	ZN169_HUMAN	N	233;42	ENSP00000378792:H233N	ENSP00000340711:H42N	H	+	1	0	ZNF169	96102358	0.000000	0.05858	0.545000	0.28153	0.783000	0.44284	-0.133000	0.10451	1.779000	0.52309	0.505000	0.49811	CAT	ZNF169	-	NULL	ENSG00000175787		0.502	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	HGNC	protein_coding	OTTHUMT00000253714.1		0	28	0	C	NM_194320		97062537	1			no_errors	ENST00000395395	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.948	A	A	97062537	C	A	97062537	3	1	117	1	0	0	0	0	1	0	0	0	17790	710	25	3	711	3	ZNF169	9	97062537	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	63264693	97062537	44150894	90	31116											
PALM2	114299	genome.wustl.edu	37	chr9	112705193	112705193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	agcttattcagaaggctggaCaatcaagcttaggaggaggg	13	8	14	6	0	2	1	2	0	0	1	2	4	2	4	0	5	2	3	0	5	5	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr9:112705193C>A	ENST00000374531.2	+	7	702	c.628C>A	c.(628-630)Caa>Aaa	p.Q210K	PALM2_ENST00000314527.4_Missense_Mutation_p.Q242K|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.Q208K|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000448454.2_Missense_Mutation_p.Q244K|PALM2-AKAP2_ENST00000374530.3_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	210					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						GAAGGCTGGACAATCAAGCTT	0.478																																																	0													90	78	82					9																	112705193		2203	4300	6503	SO:0001583	missense	0			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.628C>A	9.37:g.112705193C>A	ENSP00000363656:p.Gln210Lys		A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	pfam_Paralemmin	p.Q244K	ENST00000374531.2	37	c.730	CCDS35099.1	9	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159284	0.57368	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	6.17	6.17	0.99709	.	.	.	.	.	T	0.25568	0.0622	L	0.44542	1.39	0.80722	D	1	P;P	0.48162	0.828;0.906	P;P	0.47251	0.542;0.542	T	0.00071	-1.2131	9	0.59425	D	0.04	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	210;244	Q8IXS6;D3YTA4	PALM2_HUMAN;.	K	210;244;208;242;242	ENSP00000363656:Q210K;ENSP00000400206:Q244K;ENSP00000417525:Q208K;ENSP00000323805:Q242K;ENSP00000397839:Q242K	ENSP00000397839:Q242K	Q	+	1	0	PALM2-AKAP2;PALM2	111745014	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.025000	0.70864	2.941000	0.99782	0.655000	0.94253	CAA	PALM2	-	pfam_Paralemmin	ENSG00000243444		0.478	PALM2-002	KNOWN	basic|CCDS	protein_coding	PALM2	HGNC	protein_coding	OTTHUMT00000053604.1	-	0	22	0	C	NM_001037293		112705193	1	tier1	-	no_errors	ENST00000448454	ensembl	human	known	74_37	missense	36.36	14	8	SNP	1.000	A	A	112705193	C	A	112705193	3	1	117	1	0	0	0	0	1	0	0	0	11448	479	17	3	760	3	PALM2	9	112705193	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	15642656	112705193	28508238	91	31117											
SH2D3C	10044	genome.wustl.edu	37	chr9	130506980	130506980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtgactggaaggtggccgGgttgaaggaagaagtgactt	11	9	17	4	1	0	4	0	3	0	1	0	6	0	6	1	5	0	1	1	5	5	3	rs375337324		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr9:130506980G>A	ENST00000314830.8	-	7	1776	c.1663C>T	c.(1663-1665)Ccg>Tcg	p.P555S	SH2D3C_ENST00000420366.1_Missense_Mutation_p.P397S|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.P201S|SH2D3C_ENST00000373276.3_Missense_Mutation_p.P487S|SH2D3C_ENST00000373277.4_Missense_Mutation_p.P398S|SH2D3C_ENST00000373274.3_Missense_Mutation_p.P395S	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	555					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						AAGGTGGCCGGGTTGAAGGAA	0.592																																																	0								G	SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	114	114	114		601,601,1189,1183,1192,1663	5.4	1	9		114	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	SH2D3C	NM_001142531.1,NM_001142532.1,NM_001142533.1,NM_001142534.1,NM_005489.2,NM_170600.2	74,74,74,74,74,74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	201/507,201/507,397/703,395/701,398/704,555/861	130506980	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1663C>T	9.37:g.130506980G>A	ENSP00000317817:p.Pro555Ser		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.P555S	ENST00000314830.8	37	c.1663	CCDS6877.1	9	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151959	0.78001	2.27E-4	0.0	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	5.42	5.42	0.78866	.	0.046120	0.85682	D	0.000000	T	0.76877	0.4049	M	0.80183	2.485	0.80722	D	1	D;D;D;P;D	0.71674	0.995;0.998;0.977;0.897;0.996	P;D;P;P;D	0.64776	0.878;0.929;0.694;0.76;0.922	T	0.80039	-0.1549	10	0.72032	D	0.01	-35.3138	18.2064	0.89855	0.0:0.0:1.0:0.0	.	395;555;487;398;397	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	S	398;397;487;395;201;555	ENSP00000362374:P398S;ENSP00000388536:P397S;ENSP00000362373:P487S;ENSP00000362371:P395S;ENSP00000394632:P201S;ENSP00000317817:P555S	ENSP00000317817:P555S	P	-	1	0	SH2D3C	129546801	1.000000	0.71417	0.980000	0.43619	0.417000	0.31264	5.858000	0.69532	2.538000	0.85594	0.561000	0.74099	CCG	SH2D3C	-	NULL	ENSG00000095370		0.592	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D3C	HGNC	protein_coding	OTTHUMT00000054264.1	-	0	44	0	G	NM_005489		130506980	-1	tier1	-	no_errors	ENST00000314830	ensembl	human	known	74_37	missense	40.00	24	16	SNP	1.000	A	A	130506980	G	A	130506980	3	1	117	1	0	0	0	0	1	0	0	0	14279	1232	43	3	943	3	SH2D3C	9	130506980	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	17801787	130506980	10706451	92	31118											
PCDH15	65217	genome.wustl.edu	37	chr10	56424015	56424015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtccagagataaaactgtCgaaacatcttctgtcaaagt	15	11	7	8	1	3	1	1	0	2	1	5	3	4	1	1	0	2	0	1	0	4	2	rs372085398		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr10:56424015C>T	ENST00000320301.6	-	2	402	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	PCDH15_ENST00000361849.3_Missense_Mutation_p.R3Q|PCDH15_ENST00000373965.2_Missense_Mutation_p.R3Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R3Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000395440.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000373955.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R3Q|PCDH15_ENST00000373957.3_Missense_Mutation_p.R3Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.R3Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	3					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATAAAACTGTCGAAACATCTT	0.378										HNSCC(58;0.16)			C|||	1	0.000199681	0	0	5008	,	,		18007	0		0	False		,,,				2504	0.001																0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	79	71	74		8,8,8,8,8,8,8,8,8,8,8,8	-1.4	0.4	10		74	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	43,43,43,43,43,43,43,43,43,43,43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	3/1963,3/1958,3/1887,3/1953,3/1916,3/1936,3/1791,3/1540,3/1683,3/1678,3/1933,3/1956	56424015	2,13004	2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.8G>A	10.37:g.56424015C>T	ENSP00000322604:p.Arg3Gln		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R3Q	ENST00000320301.6	37	c.8	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	9.080	0.999084	0.19121	0.0	2.33E-4	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.47;0.52;0.41;0.41;0.42;0.66;0.56;0.42;0.39;0.49;0.4;0.4;0.4;0.43;0.54;0.89	5.8	-1.42	0.08913	.	.	.	.	.	T	0.24275	0.0588	N	0.08118	0	0.09310	N	0.999996	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.17465	0.004;0.002;0.002;0.002;0.022;0.002;0.004;0.001;0.008;0.014;0.001;0.0;0.001;0.001;0.002	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.08055	0.001;0.001;0.001;0.001;0.003;0.001;0.001;0.0;0.002;0.002;0.0;0.0;0.001;0.001;0.001	T	0.14896	-1.0456	9	0.21014	T	0.42	.	3.4614	0.07533	0.224:0.069:0.1157:0.5913	.	3;3;3;3;3;3;3;3;3;3;3;3;3;3;3	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Q	3	ENSP00000363076:R3Q;ENSP00000410304:R3Q;ENSP00000378826:R3Q;ENSP00000378832:R3Q;ENSP00000378833:R3Q;ENSP00000378829:R3Q;ENSP00000378827:R3Q;ENSP00000378820:R3Q;ENSP00000354950:R3Q;ENSP00000378821:R3Q;ENSP00000363068:R3Q;ENSP00000322604:R3Q;ENSP00000378818:R3Q;ENSP00000412628:R3Q;ENSP00000363066:R3Q;ENSP00000394465:R3Q	ENSP00000322604:R3Q	R	-	2	0	PCDH15	56094021	0.947000	0.32204	0.380000	0.26093	0.529000	0.34654	0.274000	0.18680	-0.426000	0.07360	-1.671000	0.00744	CGA	PCDH15	-	NULL	ENSG00000150275		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	36	0	C	NM_033056		56424015	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	66.67	7	14	SNP	0.978	T	T	56424015	C	T	56424015	3	4	117	1	0	0	0	0	1	0	0	0	11550	884	31	1	7650	1	PCDH15	10	56424015	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09		56424015	79110732	93	31119											
SEC24C	9632	genome.wustl.edu	37	chr10	75526572	75526572	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaagggaaacagagacagtAtttgtaccagttatccaggc	15	8	10	8	0	0	1	0	0	0	1	1	3	1	2	2	2	2	3	2	2	5	4			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr10:75526572A>T	ENST00000339365.2	+	14	2016	c.1854A>T	c.(1852-1854)gtA>gtT	p.V618V	SEC24C_ENST00000345254.4_Silent_p.V618V|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.V499V	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	618					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)					CAGAGACAGTATTTGTACCAG	0.438																																																	0													130	117	121					10																	75526572		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1854A>T	10.37:g.75526572A>T			B4DZT4|Q8WV25	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.V618	ENST00000339365.2	37	c.1854	CCDS7332.1	10																																																																																			SEC24C	-	pfam_Sec23/24_trunk_dom	ENSG00000176986		0.438	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	-	0	47	0	A			75526572	1	tier1	-	no_errors	ENST00000339365	ensembl	human	known	74_37	silent	31.03	40	18	SNP	1.000	T	T	75526572	A	T	75526572	2	4	117	1	0	0	0	0	0	0	0	1	14041	436	16	5		5	SEC24C	10	75526572	Silent	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09	19102557	75526572	60008175	94	31120											
POLR3A	11128	genome.wustl.edu	37	chr10	79739971	79739971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcttctcaaaggaggccaGcatcagcacactctccttca	10	9	7	15	1	5	0	3	0	3	0	7	1	5	1	2	2	2	2	2	2	1	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr10:79739971G>T	ENST00000372371.3	-	30	4089	c.3952C>A	c.(3952-3954)Ctg>Atg	p.L1318M		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1318					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)			AAGGAGGCCAGCATCAGCACA	0.527																																																	0													175	126	143					10																	79739971		2203	4300	6503	SO:0001583	missense	0			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.3952C>A	10.37:g.79739971G>T	ENSP00000361446:p.Leu1318Met		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.L1318M	ENST00000372371.3	37	c.3952	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824330	0.71143	.	.	ENSG00000148606	ENST00000539141;ENST00000372371;ENST00000540842	T	0.68479	-0.33	5.84	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.81059	0.4744	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81093	-0.1089	9	.	.	.	-16.6827	10.835	0.46681	0.1593:0.0:0.8407:0.0	.	1318	O14802	RPC1_HUMAN	M	134;1318;1297	ENSP00000361446:L1318M	.	L	-	1	2	POLR3A	79409977	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.794000	0.47853	0.743000	0.32719	-0.345000	0.07892	CTG	POLR3A	-	NULL	ENSG00000148606		0.527	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	-	0	40	0	G	NM_007055		79739971	-1	tier1	-	no_errors	ENST00000372371	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T	T	79739971	G	T	79739971	3	4	117	1	0	0	0	0	1	0	0	0	12267	962	34	3	228	3	POLR3A	10	79739971	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	4213399	79739971	55794776	95	31121											
ATRNL1	26033	genome.wustl.edu	37	chr10	117607407	117607407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggggcacccaagccaattgCcattgaaccatgtgctggga	10	7	13	11	0	0	1	0	1	0	0	0	2	0	2	4	3	4	2	4	3	3	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr10:117607407C>T	ENST00000355044.3	+	28	4049	c.3923C>T	c.(3922-3924)gCc>gTc	p.A1308V	ATRNL1_ENST00000423111.2_Missense_Mutation_p.A359V|ATRNL1_ENST00000303745.7_Missense_Mutation_p.A101V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1308					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)		AAGCCAATTGCCATTGAACCA	0.453																																																	0													117	106	110					10																	117607407		2203	4300	6503	SO:0001583	missense	0			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.3923C>T	10.37:g.117607407C>T	ENSP00000347152:p.Ala1308Val		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A1308V	ENST00000355044.3	37	c.3923	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221073	0.79464	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.53640	0.61;0.61;0.61	5.57	5.57	0.84162	.	0.107006	0.64402	D	0.000007	T	0.72843	0.3511	M	0.84082	2.675	0.50813	D	0.999895	D;D	0.67145	0.996;0.993	P;D	0.72625	0.875;0.978	T	0.76572	-0.2910	10	0.87932	D	0	-10.0408	19.5424	0.95280	0.0:1.0:0.0:0.0	.	359;1308	B4DH41;Q5VV63	.;ATRN1_HUMAN	V	1308;359;101	ENSP00000347152:A1308V;ENSP00000409624:A359V;ENSP00000307660:A101V	ENSP00000307660:A101V	A	+	2	0	ATRNL1	117597397	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	6.798000	0.75155	2.622000	0.88805	0.585000	0.79938	GCC	ATRNL1	-	NULL	ENSG00000107518		0.453	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0	52	0	C	XM_049349		117607407	1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	117607407	C	T	117607407	3	4	117	1	0	0	0	0	1	0	0	0	1208	739	26	3	4033	3	ATRNL1	10	117607407	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	37867436	117607407	17927340	96	31122											
TMEM41B	440026	genome.wustl.edu	37	chr11	9304976	9304976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagatgattatttttactCaaatttctgctttagttttt	10	22	4	5	0	3	2	2	1	1	1	3	2	3	2	0	0	2	2	0	0	4	9			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr11:9304976C>G	ENST00000528080.1	-	7	1209	c.871G>C	c.(871-873)Gag>Cag	p.E291Q		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	291					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)		p.E291Q(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TATTTTTACTCAAATTTCTGC	0.333																																																	1	Substitution - Missense(1)	urinary_tract(1)											46	48	47					11																	9304976		2201	4296	6497	SO:0001583	missense	0			D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.871G>C	11.37:g.9304976C>G	ENSP00000433126:p.Glu291Gln		D3DQU9|E9PP29|Q15055|Q4G0P0	Missense_Mutation	SNP	pfam_SNARE_assoc	p.E291Q	ENST00000528080.1	37	c.871	CCDS31424.1	11	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254425	0.59212	.	.	ENSG00000166471	ENST00000299596;ENST00000528080	.	.	.	5.96	5.02	0.67125	.	0.049615	0.85682	D	0.000000	T	0.47673	0.1458	L	0.29908	0.895	0.80722	D	1	B	0.26876	0.162	B	0.28465	0.09	T	0.41215	-0.9521	9	0.39692	T	0.17	-0.0034	15.6088	0.76696	0.0:0.8639:0.1361:0.0	.	291	Q5BJD5	TM41B_HUMAN	Q	291	.	ENSP00000299596:E291Q	E	-	1	0	TMEM41B	9261552	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.783000	0.62403	2.832000	0.97577	0.655000	0.94253	GAG	TMEM41B	-	NULL	ENSG00000166471		0.333	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM41B	HGNC	protein_coding	OTTHUMT00000385940.2	-	0	65	0	C			9304976	-1	tier1	-	no_errors	ENST00000299596	ensembl	human	known	74_37	missense	6.58	71	5	SNP	1.000	G	G	9304976	C	G	9304976	3	3	117	1	0	0	0	0	1	0	0	0	16212	835	29	5	8	5	TMEM41B	11	9304976	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09		9304976	125701540	97	31123											
SWAP70	23075	genome.wustl.edu	37	chr11	9749710	9749710	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggatctgaaggataagaaAggagacattctcttggatga	15	9	13	4	0	2	4	0	2	2	2	3	9	2	7	0	4	0	0	0	4	3	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr11:9749710A>T	ENST00000318950.6	+	5	856	c.753A>T	c.(751-753)aaA>aaT	p.K251N	SWAP70_ENST00000447399.2_Missense_Mutation_p.K193N	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	251	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		AGGATAAGAAAGGAGACATTC	0.423																																																	0													198	192	194					11																	9749710		2201	4294	6495	SO:0001583	missense	0			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.753A>T	11.37:g.9749710A>T	ENSP00000315630:p.Lys251Asn		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology	p.K251N	ENST00000318950.6	37	c.753	CCDS31426.1	11	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258231	0.80246	.	.	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.14893	2.47;2.47;2.47	5.97	5.97	0.96955	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.040669	0.85682	D	0.000000	T	0.36908	0.0984	M	0.79123	2.44	0.58432	D	0.999999	P;P;D	0.55605	0.88;0.856;0.972	P;P;P	0.61003	0.774;0.712;0.882	T	0.26018	-1.0115	10	0.87932	D	0	-19.8829	8.418	0.32683	0.8519:0.0:0.1481:0.0	.	193;251;193	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	N	193;251;102	ENSP00000399056:K193N;ENSP00000315630:K251N;ENSP00000435587:K102N	ENSP00000315630:K251N	K	+	3	2	SWAP70	9706286	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.353000	0.34045	2.289000	0.77006	0.459000	0.35465	AAA	SWAP70	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000133789		0.423	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWAP70	HGNC	protein_coding	OTTHUMT00000386766.2	-	0	18	0	A	NM_015055		9749710	1	tier1	-	no_errors	ENST00000318950	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	T	T	9749710	A	T	9749710	3	4	117	1	0	0	0	0	1	0	0	0	15472	69	3	5	771	5	SWAP70	11	9749710	Missense_Mutation	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09	444734	9749710	125256806	98	31124											
ARRB1	408	genome.wustl.edu	37	chr11	74985232	74985232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtagaccttgcagaacGtcgagctgggtgccacagtg	8	9	15	9	2	0	2	0	0	0	2	1	3	0	2	2	1	4	3	2	1	2	2	rs200557530		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr11:74985232G>A	ENST00000420843.2	-	11	897	c.800C>T	c.(799-801)aCg>aTg	p.T267M	ARRB1_ENST00000393505.4_Missense_Mutation_p.T267M|ARRB1_ENST00000360025.3_Missense_Mutation_p.T267M	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	267					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						CTTGCAGAACGTCGAGCTGGG	0.592																																																	0													195	174	181					11																	74985232		2200	4293	6493	SO:0001583	missense	0			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.800C>T	11.37:g.74985232G>A	ENSP00000409581:p.Thr267Met		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.T267M	ENST00000420843.2	37	c.800	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588485	0.86851	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025	T;T;T	0.18338	2.22;2.22;2.22	4.8	4.8	0.61643	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.221181	0.35407	N	0.003228	T	0.45677	0.1354	M	0.88181	2.935	0.58432	D	0.999999	D;D	0.63046	0.979;0.992	P;P	0.61328	0.507;0.887	T	0.56914	-0.7900	10	0.87932	D	0	-5.9548	15.4362	0.75149	0.0:0.0:1.0:0.0	.	267;267	P49407-2;P49407	.;ARRB1_HUMAN	M	267	ENSP00000409581:T267M;ENSP00000377141:T267M;ENSP00000353124:T267M	ENSP00000353124:T267M	T	-	2	0	ARRB1	74662880	1.000000	0.71417	0.130000	0.21974	0.951000	0.60555	7.875000	0.87205	2.232000	0.73038	0.456000	0.33151	ACG	ARRB1	-	pfam_Arrestin_C-like,superfamily_Ig_E-set	ENSG00000137486		0.592	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	-	0	79	0	G	NM_004041		74985232	-1	tier1	rs200557530	no_errors	ENST00000393505	ensembl	human	known	74_37	missense	62.50	15	25	SNP	0.959	A	A	74985232	G	A	74985232	3	1	117	1	0	0	0	0	1	0	0	0	981	1145	40	1	480	1	ARRB1	11	74985232	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	65235522	74985232	60021284	99	31125											
YAP1	10413	genome.wustl.edu	37	chr11	102098302	102098302	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctgaacagtgtggatgaGatggatacaggttggtattc	10	13	13	5	0	0	2	0	2	0	1	2	5	1	4	1	4	2	2	1	4	3	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr11:102098302G>C	ENST00000282441.5	+	8	1654	c.1266G>C	c.(1264-1266)gaG>gaC	p.E422D	YAP1_ENST00000531439.1_Missense_Mutation_p.E406D|YAP1_ENST00000345877.2_Missense_Mutation_p.E372D|YAP1_ENST00000526343.1_Missense_Mutation_p.E368D|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000524575.1_Missense_Mutation_p.E244D|YAP1_ENST00000537274.1_Missense_Mutation_p.E410D|YAP1_ENST00000528834.1_3'UTR	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	422	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)		GTGTGGATGAGATGGATACAG	0.438																																					Colon(50;247 1103 7861 28956)												0													188	136	154					11																	102098302		2203	4299	6502	SO:0001583	missense	0				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.1266G>C	11.37:g.102098302G>C	ENSP00000282441:p.Glu422Asp		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.E422D	ENST00000282441.5	37	c.1266	CCDS44716.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.82|15.82	2.944741|2.944741	0.53079|0.53079	.|.	.|.	ENSG00000137693|ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575|ENST00000529029	T;T;T|.	0.49432|.	0.83;0.78;0.85|.	5.31|5.31	-5.66|-5.66	0.02451|0.02451	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50154|0.50154	0.1599|0.1599	L|L	0.34521|0.34521	1.04|1.04	0.47407|0.47407	D|D	0.999416|0.999416	P;D;D;D;D;D|.	0.76494|.	0.956;0.999;0.994;0.999;0.995;0.996|.	D;D;D;D;D;D|.	0.80764|.	0.931;0.994;0.97;0.98;0.978;0.987|.	T|T	0.48843|0.48843	-0.8999|-0.8999	10|5	0.22109|.	T|.	0.4|.	.|.	15.7145|15.7145	0.77658|0.77658	0.4026:0.0:0.5974:0.0|0.4026:0.0:0.5974:0.0	.|.	244;339;368;406;422;372|.	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3|.	.;.;.;.;YAP1_HUMAN;.|.	D|T	368;422;410;372;339;406;244|176	ENSP00000434134:E368D;ENSP00000331023:E372D;ENSP00000435602:E244D|.	ENSP00000282441:E422D|.	E|R	+|+	3|2	2|0	YAP1|YAP1	101603512|101603512	0.996000|0.996000	0.38824|0.38824	0.834000|0.834000	0.33040|0.33040	0.582000|0.582000	0.36321|0.36321	0.435000|0.435000	0.21510|0.21510	-1.514000|-1.514000	0.01786|0.01786	-0.157000|-0.157000	0.13467|0.13467	GAG|AGA	YAP1	-	NULL	ENSG00000137693		0.438	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YAP1	HGNC	protein_coding	OTTHUMT00000394151.1	-	0	83	0	G	NM_006106		102098302	1	tier1	-	no_errors	ENST00000282441	ensembl	human	known	74_37	missense	41.27	37	26	SNP	0.965	C	C	102098302	G	C	102098302	3	2	117	1	0	0	0	0	1	0	0	0	17515	933	33	5	1308	5	YAP1	11	102098302	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	27113070	102098302	32908214	100	31126											
VWF	7450	genome.wustl.edu	37	chr12	6128641	6128641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtactccaccacggccacgcGgacccacttctgggagatgc	8	6	11	16	3	1	1	0	0	1	1	2	3	2	2	4	3	2	1	4	3	1	2	rs61749395		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:6128641G>A	ENST00000261405.5	-	28	4197	c.3943C>T	c.(3943-3945)Cgc>Tgc	p.R1315C		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1315	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACGGCCACGCGGACCCACTTC	0.637																																																	0			GRCh37	CM941402	VWF	M	rs61749395						60	60	60					12																	6128641		2203	4300	6503	SO:0001583	missense	0				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.3943C>T	12.37:g.6128641G>A	ENSP00000261405:p.Arg1315Cys		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.R1315C	ENST00000261405.5	37	c.3943	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	18.86	3.712429	0.68730	.	.	ENSG00000110799	ENST00000261405	D	0.87029	-2.2	4.98	4.05	0.47172	von Willebrand factor, type A (3);	0.000000	0.40818	N	0.001008	D	0.95604	0.8571	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96498	0.9369	10	0.87932	D	0	.	13.9462	0.64086	0.0:0.0:0.8482:0.1518	rs61749395	1315	P04275	VWF_HUMAN	C	1315	ENSP00000261405:R1315C	ENSP00000261405:R1315C	R	-	1	0	VWF	5998902	1.000000	0.71417	0.992000	0.48379	0.736000	0.42039	5.316000	0.65815	2.605000	0.88082	0.555000	0.69702	CGC	VWF	-	pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000110799		0.637	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0	97	0	G	NM_000552		6128641	-1	tier1	rs61749395	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	8.70	682	65	SNP	1.000	A	A	6128641	G	A	6128641	3	1	117	1	0	0	0	0	1	0	0	0	17295	1116	39	1	4598	1	VWF	12	6128641	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09		6128641	127723254	101	31127											
CD4	920	genome.wustl.edu	37	chr12	6924124	6924124	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtcttgcagaaccagaaGaaggtggagttcaaaataga	16	8	11	6	0	2	4	1	0	1	4	2	5	2	5	1	2	2	2	1	2	6	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:6924124G>A	ENST00000011653.4	+	5	831	c.573G>A	c.(571-573)aaG>aaA	p.K191K	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Silent_p.K136K	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	191	Ig-like C2-type 1.		K -> E (in dbSNP:rs28917504). {ECO:0000269|Ref.8}.		cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AGAACCAGAAGAAGGTGGAGT	0.577																																																	0													82	67	72					12																	6924124		2203	4300	6503	SO:0001819	synonymous_variant	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1678	protein-coding gene	gene with protein product		186940	"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.573G>A	12.37:g.6924124G>A			B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4	p.K191	ENST00000011653.4	37	c.573	CCDS8562.1	12																																																																																			CD4	-	pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2	ENSG00000010610		0.577	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	-	0	36	0	G	NM_000616		6924124	1	tier1	-	no_errors	ENST00000011653	ensembl	human	known	74_37	silent	11.86	52	7	SNP	0.000	A	A	6924124	G	A	6924124	2	1	117	1	0	0	0	0	0	0	0	1	3021	933	33	3		3	CD4	12	6924124	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	795483	6924124	126927771	102	31128											
CD163	9332	genome.wustl.edu	37	chr12	7649729	7649729	+	Splice_Site	SNP	T	T	C	0	1	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	tcaggctcagatctgctcccTctgtaacagagacacacaac	12	8	7	14	0	4	2	2	0	2	2	5	3	5	2	1	1	3	3	1	1	2	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:7649729T>C	ENST00000359156.4	-	5	981	c.779A>G	c.(778-780)aAg>aGg	p.K260R	CD163_ENST00000432237.2_Splice_Site_p.K260R|CD163_ENST00000541972.1_Splice_Site_p.K248R|CD163_ENST00000396620.3_Splice_Site_p.K260R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	260					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)	ATCTGCTCCCTCTGTAACAGA	0.433																																																	0													134	113	120					12																	7649729		2203	4300	6503	SO:0001630	splice_region_variant	0			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.779-1A>G	12.37:g.7649729T>C			C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.K260R	ENST00000359156.4	37	c.779	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	T	4.801	0.148998	0.09185	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.9	-0.281	0.12882	Speract/scavenger receptor-related (1);	1.073890	0.07207	N	0.858484	T	0.11537	0.0281	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.21905	0.036;0.001;0.062	B;B;B	0.18263	0.021;0.0;0.013	T	0.29640	-1.0005	10	0.24483	T	0.36	.	4.3249	0.11036	0.1504:0.3461:0.0:0.5035	.	260;260;260	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	260;248;260;260	ENSP00000352071:K260R;ENSP00000444071:K248R;ENSP00000379863:K260R;ENSP00000403885:K260R	ENSP00000352071:K260R	K	-	2	0	CD163	7540996	0.245000	0.23899	0.039000	0.18376	0.352000	0.29268	0.418000	0.21230	-0.001000	0.14495	-0.609000	0.04063	AAG	CD163	-	superfamily_Srcr_rcpt-rel	ENSG00000177575		0.433	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	-	0	69	0	T	NM_004244, NM_203416	Missense_Mutation	7649729	-1	tier1	-	no_errors	ENST00000359156	ensembl	human	known	74_37	missense	20.81	137	36	SNP	0.049	C	C	7649729	T	C	7649729	5	2	117	1	0	0	0	0	0	0	1	0	2974	1565	54	4	2739	4	CD163	12	7649729	Splice_Site	SNP	T	TCGA-LN-A4A8-01A-32D-A27G-09	725605	7649729	126202166	103	31129											
KLRF1	51348	genome.wustl.edu	37	chr12	9994450	9994450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaataccaagggaagtgttGttattggttctctaatgaga	13	13	10	5	0	1	1	0	1	1	1	2	3	1	2	1	2	1	3	1	2	6	6	rs3052097|rs111928232		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:9994450G>A	ENST00000279544.3	+	4	441	c.377G>A	c.(376-378)tGt>tAt	p.C126Y	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Missense_Mutation_p.C76Y|KLRF1_ENST00000537723.1_Intron	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	126	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GGGAAGTGTTGTTATTGGTTC	0.323																																																	0													142	134	136					12																	9994450		1842	4083	5925	SO:0001583	missense	0			AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"Killer cell lectin-like receptors", "C-type lectin domain containing"	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.377G>A	12.37:g.9994450G>A	ENSP00000279544:p.Cys126Tyr		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.C126Y	ENST00000279544.3	37	c.377	CCDS41750.1	12	.	.	.	.	.	.	.	.	.	.	-	4.237	0.042890	0.08196	.	.	ENSG00000150045	ENST00000324214;ENST00000279544	T;T	0.38401	1.14;1.14	.	.	.	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	.	.	.	.	T	0.62708	0.2450	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.87578	0.998;0.983	T	0.65162	-0.6235	6	.	.	.	.	.	.	.	.	126;76	Q9NZS2;Q9NZS2-2	KLRF1_HUMAN;.	Y	76;126	ENSP00000322487:C76Y;ENSP00000279544:C126Y	.	C	+	2	0	KLRF1	9885717	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	TGT	KLRF1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000150045		0.323	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRF1	HGNC	protein_coding	OTTHUMT00000399535.1		0	36	0	G	NM_016523		9994450	1			no_errors	ENST00000279544	ensembl	human	known	74_37	missense	5.45	104	6	SNP	0.999	A	A	9994450	G	A	9994450	3	1	117	1	0	0	0	0	1	0	0	0	8447	1377	48	3	391	3	KLRF1	12	9994450	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	2344721	9994450	123857445	104	31130											
SLCO1A2	6579	genome.wustl.edu	37	chr12	21448561	21448561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtatttattccaacaactGaagaattttcacaagtcatg	15	13	6	7	0	2	2	2	1	0	1	3	2	3	2	1	1	2	1	1	1	7	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:21448561G>A	ENST00000307378.6	-	11	1961	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S282L|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S414L|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S282L|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S412L	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	414					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)	TCCAACAACTGAAGAATTTTC	0.308																																																	0													64	66	65					12																	21448561		2203	4296	6499	SO:0001583	missense	0				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.1241C>T	12.37:g.21448561G>A	ENSP00000305974:p.Ser414Leu		Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S414L	ENST00000307378.6	37	c.1241	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629704	0.28978	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.18	5.18	0.71444	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.828651	0.10941	N	0.617279	T	0.31796	0.0808	N	0.14661	0.345	0.23056	N	0.998362	B;B;B	0.17038	0.02;0.016;0.013	B;B;B	0.24848	0.011;0.01;0.056	T	0.20140	-1.0284	10	0.48119	T	0.1	.	13.9573	0.64157	0.0:0.0:0.8481:0.1518	.	394;412;414	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	L	414;414;282;282;412	ENSP00000305974:S414L;ENSP00000393973:S414L;ENSP00000394854:S282L;ENSP00000439401:S282L;ENSP00000375088:S412L	ENSP00000305974:S414L	S	-	2	0	SLCO1A2	21339828	0.969000	0.33509	0.988000	0.46212	0.640000	0.38277	2.246000	0.43142	2.560000	0.86352	0.563000	0.77884	TCA	SLCO1A2	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000084453		0.308	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	-	0	40	0	G	NM_021094		21448561	-1	tier1	-	no_errors	ENST00000307378	ensembl	human	known	74_37	missense	14.29	54	9	SNP	0.807	A	A	21448561	G	A	21448561	3	1	117	1	0	0	0	0	1	0	0	0	14767	1294	45	3	795	3	SLCO1A2	12	21448561	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	11454111	21448561	112403334	105	31131											
RBMS2	5939	genome.wustl.edu	37	chr12	56965518	56965518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacaaatttatacatctcaAacctcccactgtcaatggat	14	11	3	13	0	2	0	2	0	1	0	4	1	3	1	3	1	2	0	3	1	5	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:56965518A>G	ENST00000262031.5	+	5	516	c.421A>G	c.(421-423)Aac>Gac	p.N141D	RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000552247.2_Missense_Mutation_p.N141D|RBMS2_ENST00000550726.1_Missense_Mutation_p.N16D	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	141	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						ATACATCTCAAACCTCCCACT	0.512																																																	0													84	81	82					12																	56965518		2203	4300	6503	SO:0001583	missense	0			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.421A>G	12.37:g.56965518A>G	ENSP00000262031:p.Asn141Asp			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N141D	ENST00000262031.5	37	c.421	CCDS8923.1	12	.	.	.	.	.	.	.	.	.	.	A	27.8	4.860069	0.91433	.	.	ENSG00000076067	ENST00000262031;ENST00000552247;ENST00000550726	T;D;D	0.82081	1.68;-1.57;-1.57	4.78	4.78	0.61160	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.088405	0.85682	D	0.000000	D	0.92303	0.7558	M	0.91972	3.26	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.93765	0.7070	10	0.72032	D	0.01	.	13.7153	0.62693	1.0:0.0:0.0:0.0	.	141	Q15434	RBMS2_HUMAN	D	141;141;16	ENSP00000262031:N141D;ENSP00000447426:N141D;ENSP00000449678:N16D	ENSP00000262031:N141D	N	+	1	0	RBMS2	55251785	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.949000	0.93012	2.150000	0.67090	0.402000	0.26972	AAC	RBMS2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000076067		0.512	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS2	HGNC	protein_coding	OTTHUMT00000409366.2	-	0	31	0	A	NM_002898		56965518	1	tier1	-	no_errors	ENST00000262031	ensembl	human	known	74_37	missense	62.22	17	28	SNP	1.000	G	G	56965518	A	G	56965518	3	3	117	1	0	0	0	0	1	0	0	0	13194	14	1	4	439	4	RBMS2	12	56965518	Missense_Mutation	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09	35516957	56965518	76886377	106	31132											
TBC1D15	64786	genome.wustl.edu	37	chr12	72312261	72312261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggatacctttatttttGcttcaggtggcttttaatca	7	19	7	8	0	3	0	2	0	1	0	3	1	3	1	1	3	2	2	1	3	3	8			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:72312261G>T	ENST00000550746.1	+	15	1647	c.1583G>T	c.(1582-1584)tGc>tTc	p.C528F	TBC1D15_ENST00000485960.2_Missense_Mutation_p.C511F|TBC1D15_ENST00000393309.3_Missense_Mutation_p.C282F|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.C519F	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	528	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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						CTTTATTTTTGCTTCAGGTGG	0.313																																																	0													177	187	184					12																	72312261		2202	4300	6502	SO:0001583	missense	0			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.1583G>T	12.37:g.72312261G>T	ENSP00000448182:p.Cys528Phe		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.C528F	ENST00000550746.1	37	c.1583	CCDS31858.1	12	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598692	0.87055	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.54	5.54	0.83059	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.996	T	0.45381	-0.9265	10	0.33940	T	0.23	-7.0632	19.4948	0.95067	0.0:0.0:1.0:0.0	.	519;511;528	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	F	528;519;511;282	ENSP00000448182:C528F;ENSP00000318262:C519F;ENSP00000420678:C511F;ENSP00000376986:C282F	ENSP00000318262:C519F	C	+	2	0	TBC1D15	70598528	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.706000	0.98722	2.615000	0.88500	0.655000	0.94253	TGC	TBC1D15	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000121749		0.313	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	TBC1D15	HGNC	protein_coding	OTTHUMT00000351266.2	-	0	75	0	G	NM_022771		72312261	1	tier1	-	no_errors	ENST00000550746	ensembl	human	known	74_37	missense	45.95	60	51	SNP	1.000	T	T	72312261	G	T	72312261	3	4	117	1	0	0	0	0	1	0	0	0	15651	1319	46	3	1765	3	TBC1D15	12	72312261	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	15346743	72312261	61539634	107	31133											
NAV3	89795	genome.wustl.edu	37	chr12	78400821	78400821	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctccaaaaaagacctccaaAattgcaagcttgatccctaa	16	8	5	12	0	0	2	0	1	0	1	3	2	3	2	4	0	2	3	4	0	7	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:78400821A>G	ENST00000397909.2	+	8	1676	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K	NAV3_ENST00000266692.7_Silent_p.K501K|NAV3_ENST00000228327.6_Silent_p.K501K|NAV3_ENST00000536525.2_Silent_p.K501K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	501						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						AGACCTCCAAAATTGCAAGCT	0.418										HNSCC(70;0.22)																																							0													76	75	75					12																	78400821		1893	4118	6011	SO:0001819	synonymous_variant	0			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.1503A>G	12.37:g.78400821A>G			Q8NFW7|Q9Y2E7	Silent	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.K501	ENST00000397909.2	37	c.1503		12																																																																																			NAV3	-	NULL	ENSG00000067798		0.418	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	15	0	A	NM_001024383		78400821	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	silent	35.48	20	11	SNP	1.000	G	G	78400821	A	G	78400821	2	3	117	1	0	0	0	0	0	0	0	1	10223	11	1	4		4	NAV3	12	78400821	Silent	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09	6088560	78400821	55451074	108	31134											
CCDC41	51134	genome.wustl.edu	37	chr12	94772658	94772658	+	Missense_Mutation	SNP	T	T	A	0	1	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	gagcctcagaattctcctttTcagcctttaattccgctact	8	15	5	13	1	3	1	2	0	1	1	5	2	4	1	4	0	3	1	4	0	3	7			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:94772658T>A	ENST00000397809.5	-	7	1259	c.710A>T	c.(709-711)gAa>gTa	p.E237V	CCDC41_ENST00000547575.1_Missense_Mutation_p.E237V|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Missense_Mutation_p.E237V|CCDC41_ENST00000397807.2_Missense_Mutation_p.E204V	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		229					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						ATTCTCCTTTTCAGCCTTTAA	0.438																																																	0													145	139	141					12																	94772658		1851	4111	5962	SO:0001583	missense	0																														ENST00000397809.5:c.710A>T	12.37:g.94772658T>A	ENSP00000380911:p.Glu237Val		A4FVB1|Q08AP1	Missense_Mutation	SNP	NULL	p.E237V	ENST00000397809.5	37	c.710	CCDS41820.1	12	.	.	.	.	.	.	.	.	.	.	T	27.5	4.840463	0.91197	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.69	5.69	0.88448	.	.	.	.	.	T	0.45316	0.1336	M	0.63843	1.955	0.45076	D	0.99809	D;D;D	0.67145	0.996;0.989;0.996	P;P;P	0.59357	0.856;0.836;0.856	T	0.39121	-0.9629	9	0.56958	D	0.05	-15.1811	15.938	0.79729	0.0:0.0:0.0:1.0	.	237;204;229	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	V	237;237;204;237	ENSP00000344655:E237V;ENSP00000380911:E237V;ENSP00000380909:E204V;ENSP00000448913:E237V	ENSP00000344655:E237V	E	-	2	0	CCDC41	93296789	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.875000	0.75551	2.173000	0.68751	0.477000	0.44152	GAA	CCDC41	-	NULL	ENSG00000173588		0.438	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC41	HGNC	protein_coding	OTTHUMT00000408147.3	-	0	68	0	T			94772658	-1	tier1	-	no_errors	ENST00000339839	ensembl	human	known	74_37	missense	47.87	49	45	SNP	1.000	A	A	94772658	T	A	94772658	3	1	117	1	0	0	0	0	1	0	0	0	2820	1783	62	5	1439	5	CCDC41	12	94772658	Missense_Mutation	SNP	T	TCGA-LN-A4A8-01A-32D-A27G-09	16371837	94772658	39079237	109	31135											
HAL	3034	genome.wustl.edu	37	chr12	96387577	96387577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattgataggaattacagttCtggcaaatttcccaaaacct	14	13	6	8	0	1	1	0	1	1	0	2	2	2	2	2	2	2	2	2	2	7	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:96387577C>G	ENST00000261208.3	-	7	892	c.524G>C	c.(523-525)aGa>aCa	p.R175T	HAL_ENST00000541929.1_Intron|HAL_ENST00000538703.1_Missense_Mutation_p.R175T|RP11-256L6.3_ENST00000551849.1_RNA	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	175					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AATTACAGTTCTGGCAAATTT	0.299																																					NSCLC(169;943 2815 23563 30031)												0													73	79	77					12																	96387577		2203	4300	6503	SO:0001583	missense	0				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.524G>C	12.37:g.96387577C>G	ENSP00000261208:p.Arg175Thr		B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	p.R175T	ENST00000261208.3	37	c.524	CCDS9058.1	12	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075759	0.36662	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000546579	T;T;T	0.75821	-0.97;-0.97;-0.97	5.49	4.61	0.57282	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.093828	0.85682	D	0.000000	T	0.56292	0.1975	N	0.10618	0.005	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.14023	0.007;0.01	T	0.52223	-0.8604	10	0.38643	T	0.18	-9.3943	14.413	0.67128	0.0:0.9289:0.0:0.0711	.	175;175	F5GXF2;P42357	.;HUTH_HUMAN	T	175;175;85	ENSP00000261208:R175T;ENSP00000440861:R175T;ENSP00000447543:R85T	ENSP00000261208:R175T	R	-	2	0	HAL	94911708	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	4.554000	0.60760	1.462000	0.47948	0.561000	0.74099	AGA	HAL	-	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	ENSG00000084110		0.299	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAL	HGNC	protein_coding	OTTHUMT00000408644.1	-	0	33	0	C			96387577	-1	tier1	-	no_errors	ENST00000261208	ensembl	human	known	74_37	missense	12.24	43	6	SNP	1.000	G	G	96387577	C	G	96387577	3	3	117	1	0	0	0	0	1	0	0	0	6974	913	32	5	1509	5	HAL	12	96387577	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	1614919	96387577	37464318	110	31136											
GIT2	9815	genome.wustl.edu	37	chr12	110383086	110383086	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgggcgctttcgtccctCgaccaggaaagtgtggaggg	6	9	15	11	4	0	0	0	0	0	0	4	3	1	2	2	4	0	1	2	4	1	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:110383086C>A	ENST00000355312.3	-	16	1709	c.1710G>T	c.(1708-1710)tcG>tcT	p.S570S	GIT2_ENST00000457474.2_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000338373.5_Silent_p.S472S|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000551209.1_Silent_p.S519S|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000360185.4_Silent_p.S520S|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000354574.4_Intron	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	570					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						TTTCGTCCCTCGACCAGGAAA	0.572																																																	0													64	58	60					12																	110383086		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1710G>T	12.37:g.110383086C>A			Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Silent	SNP	pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP	p.S570	ENST00000355312.3	37	c.1710	CCDS9138.1	12																																																																																			GIT2	-	NULL	ENSG00000139436		0.572	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIT2	HGNC	protein_coding	OTTHUMT00000403407.1	-	0	25	0	C	NM_057169		110383086	-1	tier1	-	no_errors	ENST00000355312	ensembl	human	known	74_37	silent	46.67	16	14	SNP	0.411	A	A	110383086	C	A	110383086	2	1	117	1	0	0	0	0	0	0	0	1	6423	871	31	2		2	GIT2	12	110383086	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	13995509	110383086	23468809	111	31137											
LRRC43	254050	genome.wustl.edu	37	chr12	122676103	122676103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaatgagtccgcgggcGtcctggccgaggtgtgccct	7	8	15	11	4	0	2	0	2	0	0	2	3	2	2	4	3	1	0	4	3	2	0			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr12:122676103G>T	ENST00000339777.4	+	6	1106	c.1078G>T	c.(1078-1080)Gtc>Ttc	p.V360F	LRRC43_ENST00000425921.1_Missense_Mutation_p.V175F	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	360	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GTCCGCGGGCGTCCTGGCCGA	0.517											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70	70	70					12																	122676103		1895	4111	6006	SO:0001583	missense	0			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.1078G>T	12.37:g.122676103G>T	ENSP00000344233:p.Val360Phe	1520	Q6ZVT9	Missense_Mutation	SNP	NULL	p.V360F	ENST00000339777.4	37	c.1078	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240456	0.39598	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.59224	0.28;0.72	5.39	3.54	0.40534	.	0.403752	0.22838	N	0.055010	T	0.48370	0.1496	L	0.36672	1.1	0.09310	N	1	P	0.42556	0.783	B	0.44133	0.442	T	0.33214	-0.9877	9	.	.	.	-24.7734	9.1096	0.36718	0.0811:0.1455:0.7733:0.0	.	360	Q8N309	LRC43_HUMAN	F	360;231;175	ENSP00000344233:V360F;ENSP00000416628:V175F	.	V	+	1	0	LRRC43	121242056	0.002000	0.14202	0.007000	0.13788	0.006000	0.05464	1.082000	0.30803	1.289000	0.44618	-0.226000	0.12346	GTC	LRRC43	-	NULL	ENSG00000158113		0.517	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1		0	33	0	G	NM_152759		122676103	1			no_errors	ENST00000339777	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.003	T	T	122676103	G	T	122676103	3	4	117	1	0	0	0	0	1	0	0	0	9036	1145	40	2	1100	2	LRRC43	12	122676103	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	12293017	122676103	11175792	112	31138											
PARP4	143	genome.wustl.edu	37	chr13	25073461	25073461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccaaggtgttatattttGcaacttcaaaatcttgagga	12	15	7	7	0	3	1	1	1	2	0	4	2	3	2	1	2	2	2	1	2	6	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr13:25073461G>T	ENST00000381989.3	-	5	560	c.455C>A	c.(454-456)gCa>gAa	p.A152E		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	152					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTTATATTTTGCAACTTCAAA	0.289																																																	0													36	38	38					13																	25073461		2200	4288	6488	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.455C>A	13.37:g.25073461G>T	ENSP00000371419:p.Ala152Glu		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.A152E	ENST00000381989.3	37	c.455	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522627	0.64747	.	.	ENSG00000102699	ENST00000381989	T	0.46451	0.87	4.26	3.39	0.38822	.	0.134165	0.49305	D	0.000152	T	0.55924	0.1951	M	0.70275	2.135	0.33615	D	0.604122	D	0.69078	0.997	P	0.60789	0.879	T	0.69312	-0.5178	10	0.72032	D	0.01	-9.7293	9.3663	0.38226	0.11:0.0:0.89:0.0	.	152	Q9UKK3	PARP4_HUMAN	E	152	ENSP00000371419:A152E	ENSP00000371419:A152E	A	-	2	0	PARP4	23971461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.533000	0.53561	1.133000	0.42147	0.632000	0.83419	GCA	PARP4	-	NULL	ENSG00000102699		0.289	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1		0	30	0	G	NM_006437		25073461	-1			no_errors	ENST00000381989	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	25073461	G	T	25073461	3	4	117	1	0	0	0	0	1	0	0	0	11502	1319	46	3	4839	3	PARP4	13	25073461	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09		25073461	90096417	113	31139											
STARD13	90627	genome.wustl.edu	37	chr13	33760148	33760148	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcatggagaactgaggaGggttccagcatggaggttca	10	10	15	6	0	1	2	1	1	0	1	2	5	2	4	1	5	3	4	1	5	1	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr13:33760148G>T	ENST00000336934.5	-	2	286				STARD13_ENST00000255486.4_Silent_p.P4P|STARD13_ENST00000399365.3_Intron|STARD13_ENST00000487412.1_Intron	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GAACTGAGGAGGGTTCCAGCA	0.512																																																	0													78	77	78					13																	33760148		2203	4300	6503	SO:0001627	intron_variant	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.170-18389C>A	13.37:g.33760148G>T			A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.P4	ENST00000336934.5	37	c.12	CCDS9348.1	13																																																																																			STARD13	-	NULL	ENSG00000133121		0.512	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	-	0	28	0	G	NM_001243466		33760148	-1	tier1	-	no_errors	ENST00000255486	ensembl	human	known	74_37	silent	46.67	16	14	SNP	0.000	T	T	33760148	G	T	33760148	1	4	117	0	1	0	0	0	0	0	0	0	15303	987	35	3		3	STARD13	13	33760148	Intron	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	8686687	33760148	81409730	114	31140											
SLC25A15	10166	genome.wustl.edu	37	chr13	41379274	41379274	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatctgcagaatgcagccgCcggttccttcgcctctgcct	5	11	10	15	3	2	2	0	1	2	1	4	2	3	2	5	1	4	3	5	1	1	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr13:41379274C>G	ENST00000338625.4	+	4	571	c.335C>G	c.(334-336)gCc>gGc	p.A112G	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	112					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	AATGCAGCCGCCGGTTCCTTC	0.547																																																	0													92	85	87					13																	41379274		2203	4300	6503	SO:0001583	missense	0			AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"Solute carriers"	10985	protein-coding gene	gene with protein product	"ornithine transporter 1"	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.335C>G	13.37:g.41379274C>G	ENSP00000342267:p.Ala112Gly		Q5VZD8|Q9HC45	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.A112G	ENST00000338625.4	37	c.335	CCDS9373.1	13	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091574	0.76756	.	.	ENSG00000102743	ENST00000338625;ENST00000443985	D	0.82711	-1.64	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91341	0.7269	M	0.82056	2.57	0.80722	D	1	D;D	0.63046	0.971;0.992	D;D	0.68039	0.955;0.938	D	0.91961	0.5579	10	0.72032	D	0.01	.	18.6386	0.91386	0.0:1.0:0.0:0.0	.	52;112	B4DL63;Q9Y619	.;ORNT1_HUMAN	G	112;52	ENSP00000342267:A112G	ENSP00000342267:A112G	A	+	2	0	SLC25A15	40277274	1.000000	0.71417	0.136000	0.22124	0.312000	0.27988	7.722000	0.84778	2.651000	0.90000	0.650000	0.86243	GCC	SLC25A15	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000102743		0.547	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A15	HGNC	protein_coding	OTTHUMT00000276149.2	-	0	75	0	C	NM_014252		41379274	1	tier1	-	no_errors	ENST00000338625	ensembl	human	known	74_37	missense	26.42	39	14	SNP	1.000	G	G	41379274	C	G	41379274	3	3	117	1	0	0	0	0	1	0	0	0	14522	739	26	5	345	5	SLC25A15	13	41379274	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	7619126	41379274	73790604	115	31141											
SLC15A1	6564	genome.wustl.edu	37	chr13	99358508	99358508	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaagactggaagagttttCtgagcaaaataaaagaaaat	19	8	11	3	0	1	4	0	1	1	3	1	6	1	6	0	2	1	2	0	2	8	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr13:99358508C>G	ENST00000376503.5	-	16	1205		c.e16-1			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GAAGAGTTTTCTGAGCAAAAT	0.398																																																	0													74	75	75					13																	99358508		2203	4300	6503	SO:0001630	splice_region_variant	0			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1150-1G>C	13.37:g.99358508C>G			Q5VW82	Splice_Site	SNP	-	e16-1	ENST00000376503.5	37	c.1150-1	CCDS9489.1	13	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580464	0.65992	.	.	ENSG00000088386	ENST00000376503	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5326	0.90997	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC15A1	98156509	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	6.036000	0.70948	2.732000	0.93576	0.650000	0.86243	.	SLC15A1	-	-	ENSG00000088386		0.398	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	HGNC	protein_coding	OTTHUMT00000045560.3		0	43	0	C	NM_005073	Intron	99358508	-1			no_errors	ENST00000376503	ensembl	human	known	74_37	splice_site	6.82	41	3	SNP	1.000	G	G	99358508	C	G	99358508	5	3	117	1	0	0	0	0	0	0	1	0	14443	927	32	5	1009	5	SLC15A1	13	99358508	Splice_Site	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	57979234	99358508	15811370	116	31142											
JPH4	84502	genome.wustl.edu	37	chr14	24041033	24041033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcctctagcatgggctgCaggtcctgggctatcagttt	5	11	15	10	0	2	0	1	0	1	0	3	0	3	0	2	5	2	5	2	5	2	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr14:24041033C>T	ENST00000397118.3	-	5	2150	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L	JPH4_ENST00000544177.1_Silent_p.L81L|JPH4_ENST00000356300.4_Silent_p.L416L	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	416					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCATGGGCTGCAGGTCCTGGG	0.632																																																	0													89	83	85					14																	24041033		2203	4300	6503	SO:0001819	synonymous_variant	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1248G>A	14.37:g.24041033C>T			D3DS53|Q8ND44|Q96DQ0	Silent	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.L416	ENST00000397118.3	37	c.1248	CCDS9603.1	14																																																																																			JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.632	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	-	0	57	0	C	NM_032452		24041033	-1	tier1	-	no_errors	ENST00000356300	ensembl	human	known	74_37	silent	11.43	31	4	SNP	1.000	T	T	24041033	C	T	24041033	2	4	117	1	0	0	0	0	0	0	0	1	7990	697	25	3		3	JPH4	14	24041033	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09		24041033	83308507	117	31143											
MNAT1	4331	genome.wustl.edu	37	chr14	61275047	61275047	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctttctaatgcagttttCaacttgaccaacaatgtgga	11	15	6	9	0	2	1	1	1	1	0	3	2	3	2	2	1	3	2	2	1	4	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr14:61275047C>T	ENST00000261245.4	+	4	422	c.321C>T	c.(319-321)ttC>ttT	p.F107F	MNAT1_ENST00000539616.2_Silent_p.F107F	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	107					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|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)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		ATGCAGTTTTCAACTTGACCA	0.294								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																									0													52	48	50					14																	61275047		2202	4295	6497	SO:0001819	synonymous_variant	0			X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"RING-type (C3HC4) zinc fingers", "General transcription factor IIH complex subunits"	7181	protein-coding gene	gene with protein product	"CDK-activating kinase assembly factor"	602659	"menage a trois 1 (CAK assembly factor)", "menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.321C>T	14.37:g.61275047C>T			G3V1U8|Q15817|Q6ICQ7	Silent	SNP	pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1/Tfb3	p.F107	ENST00000261245.4	37	c.321	CCDS9750.1	14																																																																																			MNAT1	-	pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,tigrfam_MAT1/Tfb3	ENSG00000020426		0.294	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNAT1	HGNC	protein_coding	OTTHUMT00000276956.1		0	61	0	C	NM_002431		61275047	1			no_errors	ENST00000261245	ensembl	human	known	74_37	silent	11.63	37	5	SNP	1.000	T	T	61275047	C	T	61275047	2	4	117	1	0	0	0	0	0	0	0	1	9712	825	29	3		3	MNAT1	14	61275047	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	37234014	61275047	46074493	118	31144											
WDR89	112840	genome.wustl.edu	37	chr14	64066414	64066414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatgctgaatatacactgtCacaggaatttgcaaatctga	15	11	7	8	0	2	2	1	2	1	0	2	3	2	3	0	1	3	2	0	1	5	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr14:64066414C>T	ENST00000394942.2	-	2	335	c.247G>A	c.(247-249)Gac>Aac	p.D83N	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Missense_Mutation_p.D83N	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	83										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TATACACTGTCACAGGAATTT	0.398																																																	0													54	54	54					14																	64066414		2203	4300	6503	SO:0001583	missense	0			AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"WD repeat domain containing"	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.247G>A	14.37:g.64066414C>T	ENSP00000378399:p.Asp83Asn			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D83N	ENST00000394942.2	37	c.247	CCDS9759.1	14	.	.	.	.	.	.	.	.	.	.	C	6.591	0.477481	0.12521	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	T;T;T	0.58652	0.32;0.32;0.32	5.63	3.69	0.42338	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.518609	0.22128	N	0.064234	T	0.38983	0.1061	L	0.31371	0.925	0.09310	N	0.999997	B	0.14012	0.009	B	0.17433	0.018	T	0.15549	-1.0433	10	0.13853	T	0.58	.	6.9535	0.24558	0.0:0.6628:0.1292:0.2079	.	83	Q96FK6	WDR89_HUMAN	N	83	ENSP00000378399:D83N;ENSP00000267522:D83N;ENSP00000451702:D83N	ENSP00000267522:D83N	D	-	1	0	WDR89	63136167	0.166000	0.22962	0.967000	0.41034	0.899000	0.52679	0.821000	0.27338	1.504000	0.48704	0.655000	0.94253	GAC	WDR89	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000140006		0.398	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	WDR89	HGNC	protein_coding	OTTHUMT00000411879.2	-	0	32	0	C	NM_080666		64066414	-1	tier1	-	no_errors	ENST00000267522	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.181	T	T	64066414	C	T	64066414	3	4	117	1	0	0	0	0	1	0	0	0	17385	826	29	3	920	3	WDR89	14	64066414	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	2791367	64066414	43283126	119	31145											
YLPM1	56252	genome.wustl.edu	37	chr14	75245163	75245163	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgtaggaacagcagcagtAttggtatcgacagcacttgc	11	10	12	8	1	0	0	0	0	0	0	1	2	0	1	0	2	5	7	0	2	4	6			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr14:75245163A>G	ENST00000552421.1	+	2	1011	c.887A>G	c.(886-888)tAt>tGt	p.Y296C	YLPM1_ENST00000325680.7_Missense_Mutation_p.Y296C|YLPM1_ENST00000238571.3_Missense_Mutation_p.Y296C			P49750	YLPM1_HUMAN	YLP motif containing 1	296					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)		CAGCAGCAGTATTGGTATCGA	0.418																																																	0													64	61	62					14																	75245163		1909	4112	6021	SO:0001583	missense	0			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.887A>G	14.37:g.75245163A>G	ENSP00000447921:p.Tyr296Cys		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.Y296C	ENST00000552421.1	37	c.887		14	.	.	.	.	.	.	.	.	.	.	A	12.78	2.039216	0.35989	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	T;T;T	0.23348	1.91;1.91;1.91	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000012	T	0.39358	0.1075	L	0.29908	0.895	0.34453	D	0.700904	D	0.89917	1.0	D	0.80764	0.994	T	0.53322	-0.8455	10	0.62326	D	0.03	-8.8458	14.5205	0.67847	1.0:0.0:0.0:0.0	.	296	P49750-4	.	C	296;296;296;9	ENSP00000447921:Y296C;ENSP00000324463:Y296C;ENSP00000238571:Y296C	ENSP00000238571:Y296C	Y	+	2	0	YLPM1	74314916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.108000	0.77055	2.167000	0.68274	0.482000	0.46254	TAT	YLPM1	-	NULL	ENSG00000119596		0.418	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	-	0	30	0	A	NM_019589		75245163	1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	G	G	75245163	A	G	75245163	3	3	117	1	0	0	0	0	1	0	0	0	17535	449	16	4	893	4	YLPM1	14	75245163	Missense_Mutation	SNP	A	TCGA-LN-A4A8-01A-32D-A27G-09	11178749	75245163	32104377	120	31146											
YLPM1	56252	genome.wustl.edu	37	chr14	75277108	75277108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgatttgacagagaacgccGaccccgagatgataggtatg	12	8	12	9	4	0	4	0	2	0	2	1	8	0	4	3	1	1	1	3	1	3	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr14:75277108G>A	ENST00000552421.1	+	8	3219	c.3095G>A	c.(3094-3096)cGa>cAa	p.R1032Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R1738Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1543Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1543	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)		AGAGAACGCCGACCCCGAGAT	0.383																																																	0													120	112	115					14																	75277108		1864	4093	5957	SO:0001583	missense	0			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.3095G>A	14.37:g.75277108G>A	ENSP00000447921:p.Arg1032Gln		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R1738Q	ENST00000552421.1	37	c.5213		14	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410218	0.83340	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.05447	3.44;3.44;3.44	5.83	5.83	0.93111	.	0.108147	0.41001	D	0.000967	T	0.07593	0.0191	N	0.19112	0.55	0.26760	N	0.970016	D;D	0.65815	0.992;0.995	P;P	0.53649	0.535;0.731	T	0.34925	-0.9809	10	0.33141	T	0.24	-8.3108	7.6421	0.28300	0.1929:0.0:0.8071:0.0	.	1543;1738	P49750-3;P49750-4	.;.	Q	1032;1738;1543;1451;147	ENSP00000447921:R1032Q;ENSP00000324463:R1738Q;ENSP00000238571:R1543Q	ENSP00000238571:R1543Q	R	+	2	0	YLPM1	74346861	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.495000	0.60353	2.749000	0.94314	0.655000	0.94253	CGA	YLPM1	-	NULL	ENSG00000119596		0.383	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	-	0	18	0	G	NM_019589		75277108	1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	missense	62.50	9	15	SNP	1.000	A	A	75277108	G	A	75277108	3	1	117	1	0	0	0	0	1	0	0	0	17535	1058	37	1	5247	1	YLPM1	14	75277108	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	31945	75277108	32072432	121	31147											
RAB8B	51762	genome.wustl.edu	37	chr15	63548779	63548779	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaaagacaagtgtcaaaaGaaagaggggagaaggtaaat	22	4	12	3	0	1	4	1	0	0	4	1	5	1	4	0	3	0	1	0	3	9	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr15:63548779G>C	ENST00000321437.4	+	5	556	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	RAB8B_ENST00000448330.2_Missense_Mutation_p.E134Q	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	134					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						AGTGTCAAAAGAAAGAGGGGA	0.343																																																	0													100	95	97					15																	63548779		2203	4300	6503	SO:0001583	missense	0			AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"RAB, member RAS oncogene"	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.400G>C	15.37:g.63548779G>C	ENSP00000312734:p.Glu134Gln		Q5JPC4|Q9P293	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E134Q	ENST00000321437.4	37	c.400	CCDS10183.1	15	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994485	0.93167	.	.	ENSG00000166128	ENST00000321437;ENST00000448330	T;T	0.78246	-1.16;-1.16	5.61	5.61	0.85477	Small GTP-binding protein domain (1);	0.042575	0.85682	D	0.000000	T	0.73674	0.3617	L	0.33668	1.02	0.80722	D	1	B;B	0.20550	0.022;0.046	B;B	0.31290	0.049;0.127	T	0.68588	-0.5369	10	0.44086	T	0.13	.	18.6317	0.91361	0.0:0.0:1.0:0.0	.	134;134	F5GY21;Q92930	.;RAB8B_HUMAN	Q	134	ENSP00000312734:E134Q;ENSP00000405463:E134Q	ENSP00000312734:E134Q	E	+	1	0	RAB8B	61335832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.638000	0.89438	0.655000	0.94253	GAA	RAB8B	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000166128		0.343	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8B	HGNC	protein_coding	OTTHUMT00000256336.1		0	42	0	G	NM_016530		63548779	1			no_errors	ENST00000321437	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	C	C	63548779	G	C	63548779	3	2	117	1	0	0	0	0	1	0	0	0	13002	943	33	5	418	5	RAB8B	15	63548779	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09		63548779	38982613	122	31148											
CHD2	1106	genome.wustl.edu	37	chr15	93515583	93515583	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatcgagtgcttatcttctCtcagatggtgagaatgttgg	9	14	12	6	1	3	2	1	1	2	2	5	5	3	2	0	2	1	2	0	2	3	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr15:93515583C>G	ENST00000394196.4	+	19	3509	c.2441C>G	c.(2440-2442)tCt>tGt	p.S814C	CHD2_ENST00000557381.1_Missense_Mutation_p.S814C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	814	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTTATCTTCTCTCAGATGGTG	0.408																																																	0													133	125	128					15																	93515583		2197	4298	6495	SO:0001583	missense	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2441C>G	15.37:g.93515583C>G	ENSP00000377747:p.Ser814Cys		C6G482|Q96IP5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S814C	ENST00000394196.4	37	c.2441	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344939	0.82022	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.75260	-0.92;-0.92	5.04	4.12	0.48240	Helicase, C-terminal (1);	0.000000	0.34088	U	0.004274	D	0.87593	0.6216	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89924	0.4061	10	0.87932	D	0	-13.1283	15.5096	0.75769	0.0:0.8612:0.1388:0.0	.	814;814	O14647;O14647-2	CHD2_HUMAN;.	C	814	ENSP00000377747:S814C;ENSP00000451366:S814C	ENSP00000377747:S814C	S	+	2	0	CHD2	91316587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.750000	0.85110	1.115000	0.41800	0.650000	0.86243	TCT	CHD2	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000173575		0.408	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	-	0	28	0	C	NM_001271		93515583	1	tier1	-	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	7.02	53	4	SNP	1.000	G	G	93515583	C	G	93515583	3	3	117	1	0	0	0	0	1	0	0	0	3332	913	32	5	2515	5	CHD2	15	93515583	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	29966804	93515583	9015809	123	31149											
CCNF	899	genome.wustl.edu	37	chr16	2487242	2487242	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctttcatctggctcttcatCcgccctccgtggtcggtgag	3	13	10	15	3	4	1	2	1	2	0	7	1	6	1	4	3	0	1	4	3	0	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:2487242C>G	ENST00000397066.4	+	5	547	c.459C>G	c.(457-459)atC>atG	p.I153M		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	153					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGCTCTTCATCCGCCCTCCGT	0.637																																																	0													61	55	57					16																	2487242		2198	4300	6498	SO:0001583	missense	0			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.459C>G	16.37:g.2487242C>G	ENSP00000380256:p.Ile153Met		B2R8H3|Q96EG9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom	p.I153M	ENST00000397066.4	37	c.459	CCDS10467.1	16	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858287	0.71834	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.37235	1.21	5.68	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	M	0.74881	2.28	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.63088	-0.6715	10	0.87932	D	0	-30.7861	14.2797	0.66202	0.0:0.9148:0.0:0.0852	.	153	P41002	CCNF_HUMAN	M	153;68	ENSP00000380256:I153M	ENSP00000293968:I68M	I	+	3	3	CCNF	2427243	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.809000	0.38922	2.689000	0.91719	0.655000	0.94253	ATC	CCNF	-	NULL	ENSG00000162063		0.637	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1		0	43	0	C	NM_001761		2487242	1			no_errors	ENST00000397066	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	G	G	2487242	C	G	2487242	3	3	117	1	0	0	0	0	1	0	0	0	2929	845	30	5	477	5	CCNF	16	2487242	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09		2487242	87867511	124	31150											
OR2C1	4993	genome.wustl.edu	37	chr16	3406771	3406771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaagttcatttccctgttCtactcgttggtcacacccat	7	14	7	13	1	3	0	2	0	1	0	5	0	4	0	2	2	1	4	2	2	2	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:3406771C>G	ENST00000304936.2	+	1	883	c.831C>G	c.(829-831)ttC>ttG	p.F277L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	277					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTTCCCTGTTCTACTCGTTGG	0.537																																																	0													86	72	77					16																	3406771		2197	4300	6497	SO:0001583	missense	0			AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"GPCR / Class A : Olfactory receptors"	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.831C>G	16.37:g.3406771C>G	ENSP00000307726:p.Phe277Leu		A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F277L	ENST00000304936.2	37	c.831	CCDS10502.1	16	.	.	.	.	.	.	.	.	.	.	c	12.94	2.088454	0.36855	.	.	ENSG00000168158	ENST00000304936	T	0.00032	8.88	5.0	1.83	0.25207	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000753	T	0.00300	0.0009	L	0.48986	1.54	0.32996	D	0.525541	D	0.89917	1.0	D	0.97110	1.0	T	0.66135	-0.5999	10	0.66056	D	0.02	.	8.0278	0.30446	0.0:0.7053:0.0:0.2947	.	277	O95371	OR2C1_HUMAN	L	277	ENSP00000307726:F277L	ENSP00000307726:F277L	F	+	3	2	OR2C1	3346772	0.001000	0.12720	1.000000	0.80357	0.635000	0.38103	-1.440000	0.02412	0.709000	0.31976	-0.198000	0.12761	TTC	OR2C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000168158		0.537	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C1	HGNC	protein_coding	OTTHUMT00000206993.3	-	0	21	0	C			3406771	1	tier1	-	no_errors	ENST00000304936	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.990	G	G	3406771	C	G	3406771	3	3	117	1	0	0	0	0	1	0	0	0	11031	912	32	5	833	5	OR2C1	16	3406771	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	919529	3406771	86947982	125	31151											
ERI2	112479	genome.wustl.edu	37	chr16	20814939	20814939	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	actcactggatttgcttcttCcgagatttccatttgctggc	6	16	8	11	1	2	1	1	0	1	1	4	3	4	2	2	2	2	2	2	2	0	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:20814939C>G	ENST00000357967.4	-	2	119	c.77G>C	c.(76-78)gGa>gCa	p.G26A	ERI2_ENST00000563117.1_5'UTR|ERI2_ENST00000568251.1_5'Flank|AC004381.6_ENST00000261377.6_5'Flank|ERI2_ENST00000300005.3_Missense_Mutation_p.G26A|ERI2_ENST00000564349.1_5'UTR|AC004381.6_ENST00000348433.6_5'Flank|ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000569729.1_Missense_Mutation_p.G26A	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	26							exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TTTGCTTCTTCCGAGATTTCC	0.378																																																	0													88	74	79					16																	20814939		2201	4300	6501	SO:0001583	missense	0			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.77G>C	16.37:g.20814939C>G	ENSP00000350651:p.Gly26Ala		Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease	p.G26A	ENST00000357967.4	37	c.77	CCDS45436.1	16	.	.	.	.	.	.	.	.	.	.	C	7.158	0.585077	0.13749	.	.	ENSG00000196678	ENST00000300005;ENST00000357967	T	0.17691	2.26	5.76	0.341	0.15991	.	0.656259	0.16453	N	0.213761	T	0.09247	0.0228	L	0.29908	0.895	0.18873	N	0.999982	B;B;B	0.24721	0.028;0.037;0.11	B;B;B	0.19148	0.012;0.024;0.018	T	0.36432	-0.9748	10	0.18276	T	0.48	-3.9717	5.3993	0.16286	0.0:0.554:0.1339:0.3121	.	26;26;26	A8K979;A8K979-3;A8K979-4	ERI2_HUMAN;.;.	A	26	ENSP00000350651:G26A	ENSP00000300005:G26A	G	-	2	0	ERI2	20722440	0.001000	0.12720	0.001000	0.08648	0.484000	0.33280	0.241000	0.18065	-0.137000	0.11455	-0.136000	0.14681	GGA	ERI2	-	NULL	ENSG00000196678		0.378	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI2	HGNC	protein_coding		-	0	18	0	C	NM_080663		20814939	-1	tier1	-	no_errors	ENST00000357967	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.000	G	G	20814939	C	G	20814939	3	3	117	1	0	0	0	0	1	0	0	0	5244	855	30	5	2297	5	ERI2	16	20814939	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	17408168	20814939	69539814	126	31152											
IGSF6	10261	genome.wustl.edu	37	chr16	21658708	21658708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	atgttggttgctcagaagggCatccggttgcggagaaggta	9	10	16	6	2	1	2	1	0	0	2	2	3	2	2	1	5	2	6	1	5	3	4			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:21658708C>A	ENST00000268389.4	-	2	234	c.173G>T	c.(172-174)tGc>tTc	p.C58F	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	58	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CTCAGAAGGGCATCCGGTTGC	0.547																																																	0													132	102	112					16																	21658708		2199	4300	6499	SO:0001583	missense	0			AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"Immunoglobulin superfamily / V-set domain containing"	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.173G>T	16.37:g.21658708C>A	ENSP00000268389:p.Cys58Phe		Q8WWD8	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.C58F	ENST00000268389.4	37	c.173	CCDS10599.1	16	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410086	0.42715	.	.	ENSG00000140749	ENST00000268389	T	0.39229	1.09	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.64997	1.995	0.48975	D	0.999739	D	0.89917	1.0	D	0.91635	0.999	T	0.63985	-0.6513	10	0.87932	D	0	-13.9298	14.8754	0.70491	0.0:1.0:0.0:0.0	.	58	O95976	IGSF6_HUMAN	F	58	ENSP00000268389:C58F	ENSP00000268389:C58F	C	-	2	0	IGSF6	21566209	1.000000	0.71417	0.709000	0.30452	0.022000	0.10575	5.293000	0.65680	2.653000	0.90120	0.650000	0.86243	TGC	IGSF6	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000140749		0.547	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF6	HGNC	protein_coding	OTTHUMT00000207400.1	-	0	78	0	C			21658708	-1	tier1	-	no_errors	ENST00000268389	ensembl	human	known	74_37	missense	38.03	44	27	SNP	0.990	A	A	21658708	C	A	21658708	3	1	117	1	0	0	0	0	1	0	0	0	7630	710	25	3	572	3	IGSF6	16	21658708	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	843769	21658708	68696045	127	31153											
ABCC12	94160	genome.wustl.edu	37	chr16	48180286	48180286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcaaaggatctccgcCggcctcgctggtccagatct	6	11	10	14	3	3	1	0	0	3	1	6	2	4	2	4	3	1	2	4	3	1	1	rs372957171		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:48180286C>A	ENST00000311303.3	-	1	395	c.50G>T	c.(49-51)cGg>cTg	p.R17L	ABCC12_ENST00000448542.1_Missense_Mutation_p.R17L|ABCC12_ENST00000416054.1_Missense_Mutation_p.R17L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	17						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)				GGATCTCCGCCGGCCTCGCTG	0.577																																																	0													130	114	120					16																	48180286		2201	4300	6501	SO:0001583	missense	0			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.50G>T	16.37:g.48180286C>A	ENSP00000311030:p.Arg17Leu		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R17L	ENST00000311303.3	37	c.50	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138052	0.37728	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	D;D;D;D	0.92805	-2.84;-3.04;-3.11;-2.52	5.55	-4.75	0.03239	.	1.887800	0.02024	N	0.048026	D	0.84379	0.5459	L	0.38175	1.15	0.09310	N	1	P;B	0.37141	0.584;0.045	B;B	0.28916	0.096;0.039	T	0.75822	-0.3182	10	0.29301	T	0.29	.	7.0137	0.24877	0.0:0.4116:0.2417:0.3468	.	17;17	Q96J65-2;Q96J65	.;MRP9_HUMAN	L	17	ENSP00000311030:R17L;ENSP00000401855:R17L;ENSP00000413046:R17L;ENSP00000436647:R17L	ENSP00000311030:R17L	R	-	2	0	ABCC12	46737787	0.000000	0.05858	0.009000	0.14445	0.764000	0.43329	-0.499000	0.06413	-0.841000	0.04200	-0.320000	0.08662	CGG	ABCC12	-	NULL	ENSG00000140798		0.577	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	-	0	52	0	C	NM_033226		48180286	-1	tier1	-	no_errors	ENST00000311303	ensembl	human	known	74_37	missense	44.07	33	26	SNP	0.000	A	A	48180286	C	A	48180286	3	1	117	1	0	0	0	0	1	0	0	0	52	652	23	2	4145	2	ABCC12	16	48180286	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	26521578	48180286	42174467	128	31154											
ABCC11	85320	genome.wustl.edu	37	chr16	48261862	48261862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagcattgtccaggggctGgggggcaggaaacctagtag	9	6	17	9	0	0	0	0	0	0	0	1	1	1	1	3	6	2	4	3	6	3	3	rs372557069		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:48261862G>T	ENST00000394747.1	-	3	599	c.250C>A	c.(250-252)Cag>Aag	p.Q84K	ABCC11_ENST00000394748.1_Missense_Mutation_p.Q84K|ABCC11_ENST00000356608.2_Missense_Mutation_p.Q84K|ABCC11_ENST00000353782.5_Missense_Mutation_p.Q84K|ABCC11_ENST00000537808.1_Missense_Mutation_p.Q84K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	84					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TCCAGGGGCTGGGGGGCAGGA	0.493																																																	0													61	62	62					16																	48261862		2200	4300	6500	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.250C>A	16.37:g.48261862G>T	ENSP00000378230:p.Gln84Lys		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Q84K	ENST00000394747.1	37	c.250	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695944	0.30052	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.53	-1.5	0.08691	.	0.401000	0.25925	N	0.027401	T	0.34483	0.0899	L	0.47716	1.5	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.06405	0.002;0.002	T	0.37244	-0.9714	10	0.44086	T	0.13	-0.9363	15.5421	0.76062	0.0:0.0:0.2515:0.7485	.	84;84	Q96J66-2;Q96J66	.;ABCCB_HUMAN	K	84	ENSP00000311326:Q84K;ENSP00000349017:Q84K;ENSP00000378231:Q84K;ENSP00000378230:Q84K;ENSP00000438530:Q84K	ENSP00000311326:Q84K	Q	-	1	0	ABCC11	46819363	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.131000	0.10482	-0.156000	0.11079	-1.194000	0.01681	CAG	ABCC11	-	NULL	ENSG00000121270		0.493	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1		0	39	0	G	NM_032583		48261862	-1			no_errors	ENST00000356608	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.000	T	T	48261862	G	T	48261862	3	4	117	1	0	0	0	0	1	0	0	0	51	1357	47	3	4006	3	ABCC11	16	48261862	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	81576	48261862	42092891	129	31155											
ADCY7	113	genome.wustl.edu	37	chr16	50334758	50334758	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgacgtgtccctggccaaCcggatggaggcagccggagt	8	5	15	13	4	0	0	0	0	0	0	1	4	1	3	4	5	2	1	4	5	1	0			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:50334758C>T	ENST00000394697.2	+	9	1549	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	ADCY7_ENST00000537579.1_Silent_p.N403N|ADCY7_ENST00000538642.1_Silent_p.N403N|ADCY7_ENST00000566433.2_Silent_p.N403N|ADCY7_ENST00000254235.3_Silent_p.N403N			P51828	ADCY7_HUMAN	adenylate cyclase 7	403	Guanylate cyclase 1. {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)		CCCTGGCCAACCGGATGGAGG	0.667																																																	0													99	79	86					16																	50334758		2170	4243	6413	SO:0001819	synonymous_variant	0			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.1209C>T	16.37:g.50334758C>T			A0AVA6	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.N403	ENST00000394697.2	37	c.1209	CCDS10741.1	16																																																																																			ADCY7	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000121281		0.667	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	-	0	66	0	C			50334758	1	tier1	-	no_errors	ENST00000254235	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	T	T	50334758	C	T	50334758	2	4	117	1	0	0	0	0	0	0	0	1	299	506	18	3		3	ADCY7	16	50334758	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	2072896	50334758	40019995	130	31156											
RPGRIP1L	23322	genome.wustl.edu	37	chr16	53675262	53675262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttctggctcttcgctgcGaatgaaatttcctaagtctt	9	15	7	10	2	3	1	0	1	3	0	5	2	4	1	1	1	2	2	1	1	4	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:53675262G>T	ENST00000379925.3	-	18	2859	c.2809C>A	c.(2809-2811)Cgc>Agc	p.R937S	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R937S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R937S|RPGRIP1L_ENST00000568009.1_5'Flank|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R937S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	937			R -> L (in a patient with Leber congenital amaurosis). {ECO:0000269|PubMed:19430481}.		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)				TCTTCGCTGCGAATGAAATTT	0.383																																																	0													109	101	104					16																	53675262		2198	4300	6498	SO:0001583	missense	0				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.2809C>A	16.37:g.53675262G>T	ENSP00000369257:p.Arg937Ser		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R937S	ENST00000379925.3	37	c.2809	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	G	0.225	-1.025524	0.02061	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.75260	-0.72;-0.92	4.73	-0.824	0.10812	.	1.615770	0.03380	N	0.200268	T	0.50309	0.1608	N	0.08118	0	0.09310	N	1	B;B;B;B	0.15930	0.001;0.0;0.015;0.0	B;B;B;B	0.11329	0.003;0.0;0.006;0.001	T	0.39333	-0.9619	10	0.08599	T	0.76	7.905	5.3487	0.16024	0.3159:0.1357:0.5484:0.0	.	937;937;937;937	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	S	937	ENSP00000369257:R937S;ENSP00000262135:R937S	ENSP00000262135:R937S	R	-	1	0	RPGRIP1L	52232763	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.514000	0.22786	-0.199000	0.10317	-0.229000	0.12294	CGC	RPGRIP1L	-	NULL	ENSG00000103494		0.383	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1		0	27	0	G	NM_015272		53675262	-1			no_errors	ENST00000379925	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.000	T	T	53675262	G	T	53675262	3	4	117	1	0	0	0	0	1	0	0	0	13595	1058	37	2	1178	2	RPGRIP1L	16	53675262	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	3340504	53675262	36679491	131	31157											
IRX5	10265	genome.wustl.edu	37	chr16	54966749	54966749	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggaggagaacattgacctgGagaagaacgacgaggacgag	16	3	16	6	3	0	4	0	1	0	3	0	11	0	6	1	4	2	0	1	4	3	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:54966749G>C	ENST00000394636.4	+	2	926	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Missense_Mutation_p.E131Q|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Missense_Mutation_p.E197Q			P78411	IRX5_HUMAN	iroquois homeobox 5	197					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CATTGACCTGGAGAAGAACGA	0.637																																																	0													76	89	84					16																	54966749		2198	4300	6498	SO:0001583	missense	0			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.589G>C	16.37:g.54966749G>C	ENSP00000378132:p.Glu197Gln		H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.E197Q	ENST00000394636.4	37	c.589	CCDS10751.1	16	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065960	0.76187	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.62364	0.05;0.03	4.14	4.14	0.48551	.	0.774306	0.12332	N	0.478272	T	0.70833	0.3269	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	P	0.58577	0.841	T	0.68337	-0.5435	10	0.39692	T	0.17	-17.3162	15.3232	0.74139	0.0:0.0:1.0:0.0	.	197	P78411	IRX5_HUMAN	Q	197	ENSP00000378132:E197Q;ENSP00000316250:E197Q	ENSP00000316250:E197Q	E	+	1	0	IRX5	53524250	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.663000	0.83820	2.123000	0.65237	0.655000	0.94253	GAG	IRX5	-	NULL	ENSG00000176842		0.637	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IRX5	HGNC	protein_coding	OTTHUMT00000256911.2	-	0	80	0	G			54966749	1	tier1	-	no_errors	ENST00000394636	ensembl	human	known	74_37	missense	28.07	41	16	SNP	1.000	C	C	54966749	G	C	54966749	3	2	117	1	0	0	0	0	1	0	0	0	7874	1175	41	5	595	5	IRX5	16	54966749	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	1291487	54966749	35388004	132	31158											
CMTM3	123920	genome.wustl.edu	37	chr16	66642288	66642289	+	Frame_Shift_Ins	INS	-	-	CC																															acagcgcctctgctggagttINScctgctggccttgtacttcc																										TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:66642288_66642289insCC	ENST00000424011.2	+	3	750_751	c.224_225insCC	c.(223-228)ttcctgfs	p.L76fs	CMTM3_ENST00000565922.1_Intron|CMTM3_ENST00000460097.1_5'UTR|CMTM3_ENST00000360086.4_Intron|CMTM3_ENST00000564060.1_Frame_Shift_Ins_p.L76fs|CMTM3_ENST00000361909.4_Frame_Shift_Ins_p.L76fs|CMTM3_ENST00000567572.1_Frame_Shift_Ins_p.L76fs|CMTM3_ENST00000568477.1_5'UTR|CMTM3_ENST00000565666.1_5'UTR|CMTM3_ENST00000562707.1_Frame_Shift_Ins_p.L76fs|CMTM3_ENST00000566121.1_5'UTR|CMTM3_ENST00000565003.1_5'UTR			Q96MX0	CKLF3_HUMAN	CKLF-like MARVEL transmembrane domain containing 3	76	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|positive regulation of B cell receptor signaling pathway (GO:0050861)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				central_nervous_system(1)|endometrium(1)|lung(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		CTGCTGGAGTTCCTGCTGGCCT	0.564											OREG0023859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0			AK056324	CCDS10815.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140931	ENSG00000140931			19174	protein-coding gene	gene with protein product		607886	"chemokine-like factor superfamily 3"	CKLFSF3		15087455	Standard	NM_144601		Approved	FLJ31762, BNAS2	uc002epv.3	Q96MX0	OTTHUMG00000137503	ENST00000424011.2:c.225_226dupCC	16.37:g.66642289_66642290dupCC	ENSP00000400482:p.Leu76fs	1093	A6NCL9|Q8IUU8|Q8IWQ6|Q8IYE2|Q8IZ39|Q8IZ59	Frame_Shift_Ins	INS	pfam_Marvel	p.L76fs	ENST00000424011.2	37	c.224_225	CCDS10815.1	16																																																																																			CMTM3	-	pfam_Marvel	ENSG00000140931		0.564	CMTM3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CMTM3	HGNC	protein_coding	OTTHUMT00000268814.2		0	36	0	-	NM_144601		66642289	1	tier1		no_errors	ENST00000361909	ensembl	human	known	74_37	frame_shift_ins	26.32	14	5	INS	1.000:1.000	CC	CC	66642289	-	CC	66642288	7	5	117	1	0	1	1	0	0	0	0	0	3591	1783	62	0	230	0	CMTM3	16	66642288	Frame_Shift_Ins	INS	-	TCGA-LN-A4A8-01A-32D-A27G-09	11675539	66642288	23712465	133	31159											
TMCO7	79613	genome.wustl.edu	37	chr16	68901087	68901087	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatgagacctaatggtgttCaggcagtagtccggggcatt	10	11	13	7	1	1	1	1	1	0	1	2	2	2	1	2	4	0	4	2	4	3	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:68901087C>G	ENST00000261778.1	+	4	970	c.958C>G	c.(958-960)Cag>Gag	p.Q320E		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	320						integral component of membrane (GO:0016021)											TAATGGTGTTCAGGCAGTAGT	0.488																																																	0													176	173	174					16																	68901087		1925	4121	6046	SO:0001583	missense	0				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.958C>G	16.37:g.68901087C>G	ENSP00000261778:p.Gln320Glu		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.Q320E	ENST00000261778.1	37	c.958	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812166	0.90707	.	.	ENSG00000103047	ENST00000261778	T	0.69435	-0.4	5.83	5.83	0.93111	.	.	.	.	.	T	0.81555	0.4847	M	0.79123	2.44	0.54753	D	0.999982	D;D	0.64830	0.994;0.994	D;D	0.70716	0.97;0.97	T	0.77178	-0.2683	9	0.23302	T	0.38	-6.9744	18.8787	0.92349	0.0:1.0:0.0:0.0	.	320;159	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	E	320	ENSP00000261778:Q320E	ENSP00000261778:Q320E	Q	+	1	0	TMCO7	67458588	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.454000	0.73493	2.755000	0.94549	0.650000	0.86243	CAG	TANGO6	-	NULL	ENSG00000103047		0.488	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	HGNC	protein_coding	OTTHUMT00000433471.2		0	59	0	C	XM_928235.2		68901087	1			no_errors	ENST00000261778	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	G	G	68901087	C	G	68901087	3	3	117	1	0	0	0	0	1	0	0	0	16048	827	29	5	972	5	TMCO7	16	68901087	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	2258799	68901087	21453666	134	31160											
BCMO1	53630	genome.wustl.edu	37	chr16	81324181	81324181	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacggggctcctctgacctGatggtgttggggtttgggta	4	12	16	9	1	1	2	0	2	1	0	2	2	2	2	3	6	0	4	3	6	1	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr16:81324181G>C	ENST00000258168.2	+	11	2104	c.1643G>C	c.(1642-1644)tGa>tCa	p.*548S	BCMO1_ENST00000425577.2_Nonstop_Mutation_p.*479S	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CCTCTGACCTGATGGTGTTGG	0.547																																																	0													54	57	56					16																	81324181		2202	4300	6502	SO:0001578	stop_lost	0																														ENST00000258168.2:c.1643G>C	16.37:g.81324181G>C	ENSP00000258168:p.*548Serext*60			Nonstop_Mutation	SNP	pfam_Carotenoid_Oase	p.*548S	ENST00000258168.2	37	c.1643	CCDS10934.1	16	.	.	.	.	.	.	.	.	.	.	G	8.928	0.962716	0.18583	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	.	.	.	4.32	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4655	0.27320	0.1156:0.0:0.8844:0.0	.	.	.	.	S	548;479	.	.	X	+	2	2	BCMO1	79881682	0.700000	0.27796	0.080000	0.20451	0.007000	0.05969	2.534000	0.45676	2.405000	0.81733	0.650000	0.86243	TGA	BCMO1	-	NULL	ENSG00000135697		0.547	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	HGNC	protein_coding	OTTHUMT00000269056.1	-	0	39	0	G			81324181	1	tier1	-	no_errors	ENST00000258168	ensembl	human	known	74_37	nonstop	17.31	43	9	SNP	0.054	C	C	81324181	G	C	81324181	4	2	117	1	0	0	0	0	0	0	0	0	1385	1285	45	5	1685	5	BCMO1	16	81324181	Nonstop_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	12423094	81324181	9030572	135	31161											
TP53	7157	genome.wustl.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	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	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)											47	47	47					17																	7578394		2203	4300	6503	SO:0001583	missense	0	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.H179R	ENST00000269305.4	37	c.536	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	454	0	T	NM_000546		7578394	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	73.90	107	303	SNP	1.000	C	C	7578394	T	C	7578394	3	2	117	1	0	0	0	0	1	0	0	0	16429	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-LN-A4A8-01A-32D-A27G-09		7578394	73616816	136	31162											
MYH2	4620	genome.wustl.edu	37	chr17	10451186	10451186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctccctttcagactttcGgaggaaaggagcagcctccc	8	8	11	14	2	1	1	1	0	0	1	4	4	3	4	3	3	2	2	3	3	1	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:10451186G>A	ENST00000245503.5	-	3	436	c.52C>T	c.(52-54)Cga>Tga	p.R18*	MYH2_ENST00000532183.2_Nonsense_Mutation_p.R18*|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.R18*	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	18					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCAGACTTTCGGAGGAAAGGA	0.483																																																	0													52	51	51					17																	10451186		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.52C>T	17.37:g.10451186G>A	ENSP00000245503:p.Arg18*		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R18*	ENST00000245503.5	37	c.52	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.398499	0.98258	.	.	ENSG00000125414	ENST00000532288;ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805;ENST00000431502	.	.	.	5.85	4.85	0.62838	.	0.000000	0.33346	U	0.005017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3017	0.60328	0.0:0.0:0.7184:0.2816	.	.	.	.	X	18	.	ENSP00000245503:R18X	R	-	1	2	MYH2	10391911	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.321000	0.43805	2.772000	0.95346	0.650000	0.86243	CGA	MYH2	-	NULL	ENSG00000125414		0.483	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0	33	0	G	NM_017534		10451186	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	nonsense	22.86	27	8	SNP	1.000	A	A	10451186	G	A	10451186	4	1	117	1	0	0	0	0	0	1	0	0	10073	1124	39	1	5925	1	MYH2	17	10451186	Nonsense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	2872792	10451186	70744024	137	31163											
STARD3	10948	genome.wustl.edu	37	chr17	37814733	37814733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggttggagacctggttcCttgacttcaaagtcctaccc	7	12	9	13	0	1	2	1	1	0	1	3	3	3	2	5	3	1	2	5	3	2	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:37814733C>T	ENST00000336308.5	+	6	723	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	STARD3_ENST00000394250.4_Missense_Mutation_p.L151F|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000544210.2_Silent_p.S164S|STARD3_ENST00000580611.1_Missense_Mutation_p.L143F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	169	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.				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)			GACCTGGTTCCTTGACTTCAA	0.602																																																	0													101	80	87					17																	37814733		2203	4300	6503	SO:0001583	missense	0				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.505C>T	17.37:g.37814733C>T	ENSP00000337446:p.Leu169Phe		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	pfam_MENTAL,pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR	p.L169F	ENST00000336308.5	37	c.505	CCDS11341.1	17	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778532	0.70107	.	.	ENSG00000131748	ENST00000336308;ENST00000394250;ENST00000443521	T;T;T	0.59772	0.24;0.24;0.24	5.26	4.28	0.50868	MENTAL domain (2);	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	.	.	.	0.58432	D	0.999999	B;B	0.29481	0.245;0.154	B;B	0.43575	0.35;0.424	T	0.68454	-0.5404	9	0.72032	D	0.01	.	14.2291	0.65879	0.0:0.9266:0.0:0.0734	.	151;169	A8MXA4;Q14849	.;STAR3_HUMAN	F	169;151;169	ENSP00000337446:L169F;ENSP00000377794:L151F;ENSP00000411710:L169F	ENSP00000337446:L169F	L	+	1	0	STARD3	35068259	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.562000	0.67346	2.457000	0.83068	0.655000	0.94253	CTT	STARD3	-	pfam_MENTAL	ENSG00000131748		0.602	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD3	HGNC	protein_coding	OTTHUMT00000256933.1	-	0	68	0	C			37814733	1	tier1	-	no_errors	ENST00000336308	ensembl	human	known	74_37	missense	58.33	30	42	SNP	1.000	T	T	37814733	C	T	37814733	3	4	117	1	0	0	0	0	1	0	0	0	15304	681	24	3	523	3	STARD3	17	37814733	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	27363547	37814733	43380477	138	31164											
CCR10	2826	genome.wustl.edu	37	chr17	40832242	40832242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	gagcgctcgcgcgatggccaCgtagcggtcggcgctgatac	6	6	16	13	8	0	1	0	1	0	0	2	3	0	1	1	3	3	3	1	3	2	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:40832242C>A	ENST00000332438.4	-	2	437	c.418G>T	c.(418-420)Gtg>Ttg	p.V140L	CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA|CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	140					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)		GCGATGGCCACGTAGCGGTCG	0.692																																																	0													11	14	13					17																	40832242		2181	4272	6453	SO:0001583	missense	0			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.418G>T	17.37:g.40832242C>A	ENSP00000332504:p.Val140Leu		Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR10,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.V140L	ENST00000332438.4	37	c.418	CCDS11435.1	17	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102081	0.37048	.	.	ENSG00000184451	ENST00000332438	T	0.34667	1.35	4.1	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.200626	0.24438	N	0.038534	T	0.09202	0.0227	N	0.00566	-1.37	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.08597	-1.0714	10	0.12430	T	0.62	.	6.7651	0.23562	0.0:0.7188:0.1827:0.0984	.	140	P46092	CCR10_HUMAN	L	140	ENSP00000332504:V140L	ENSP00000332504:V140L	V	-	1	0	CCR10	38085768	0.000000	0.05858	0.999000	0.59377	0.789000	0.44602	-0.549000	0.06041	0.908000	0.36671	-0.502000	0.04539	GTG	CCR10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184451		0.692	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR10	HGNC	protein_coding	OTTHUMT00000255406.1	-	0	14	0	C	NM_016602		40832242	-1	tier1	-	no_errors	ENST00000332438	ensembl	human	known	74_37	missense	53.85	6	7	SNP	0.985	A	A	40832242	C	A	40832242	3	1	117	1	0	0	0	0	1	0	0	0	2947	536	19	2	674	2	CCR10	17	40832242	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	3017509	40832242	40362968	139	31165											
HLF	3131	genome.wustl.edu	37	chr17	53398174	53398174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccaggaggtggctgacttGaggaaggagctgggcaaatg	10	6	18	7	1	0	2	0	2	0	0	0	5	0	5	1	6	1	3	1	6	2	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:53398174G>C	ENST00000226067.5	+	4	1295	c.822G>C	c.(820-822)ttG>ttC	p.L274F	HLF_ENST00000573945.1_Missense_Mutation_p.L189F|HLF_ENST00000575345.1_Missense_Mutation_p.L189F|HLF_ENST00000430986.2_Missense_Mutation_p.L189F|HLF_ENST00000575307.1_3'UTR	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	274	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						TGGCTGACTTGAGGAAGGAGC	0.592			T	TCF3	ALL																																			Dom	yes		17	17q22	3131	hepatic leukemia factor		L	0													31	31	31					17																	53398174		2203	4300	6503	SO:0001583	missense	0				CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.822G>C	17.37:g.53398174G>C	ENSP00000226067:p.Leu274Phe		A8K1X8|Q6FHS9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.L274F	ENST00000226067.5	37	c.822	CCDS11585.1	17	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465504	0.63513	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	T;T	0.53423	0.62;0.62	5.77	2.54	0.30619	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.64402	D	0.000004	T	0.67711	0.2922	M	0.92219	3.285	0.80722	D	1	P;D	0.58268	0.887;0.982	P;P	0.60473	0.733;0.875	T	0.69767	-0.5056	10	0.87932	D	0	.	6.7328	0.23393	0.1538:0.0:0.7027:0.1435	.	222;274	B4DIQ5;Q16534	.;HLF_HUMAN	F	274;189	ENSP00000226067:L274F;ENSP00000402496:L189F	ENSP00000226067:L274F	L	+	3	2	HLF	50753173	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.071000	0.30666	0.773000	0.33404	0.655000	0.94253	TTG	HLF	-	pfam_bZIP,smart_bZIP,pfscan_bZIP	ENSG00000108924		0.592	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLF	HGNC	protein_coding	OTTHUMT00000439185.1		0	48	0	G	NM_002126		53398174	1			no_errors	ENST00000226067	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	C	C	53398174	G	C	53398174	3	2	117	1	0	0	0	0	1	0	0	0	7241	1281	45	5	836	5	HLF	17	53398174	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	12565932	53398174	27797036	140	31166											
ABCA8	10351	genome.wustl.edu	37	chr17	66873731	66873731	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacacctccaggtgctgcctCactgtcaggttgggccacag	7	9	11	14	0	2	0	2	0	0	0	3	0	3	0	4	3	3	2	4	3	1	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:66873731C>G	ENST00000269080.2	-	31	4145	c.4008G>C	c.(4006-4008)gtG>gtC	p.V1336V	ABCA8_ENST00000430352.2_Silent_p.V1376V|ABCA8_ENST00000586539.1_Silent_p.V1376V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1336	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTGCTGCCTCACTGTCAGGT	0.592																																																	0													153	132	139					17																	66873731		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4008G>C	17.37:g.66873731C>G			A1L3U3|C9JQE6|Q86WW0	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V1376	ENST00000269080.2	37	c.4128	CCDS11680.1	17																																																																																			ABCA8	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000141338		0.592	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	-	0	102	0	C	NM_007168		66873731	-1	tier1	-	no_errors	ENST00000430352	ensembl	human	known	74_37	silent	47.31	49	44	SNP	0.997	G	G	66873731	C	G	66873731	2	3	117	1	0	0	0	0	0	0	0	1	38	813	29	5		5	ABCA8	17	66873731	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	13475557	66873731	14321479	141	31167											
ICT1	3396	genome.wustl.edu	37	chr17	73008936	73008936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacaagctctaccccgaatCtcagggctcggacaccgcct	9	6	10	16	3	2	0	1	0	2	0	4	3	2	2	4	3	2	2	4	3	3	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr17:73008936C>G	ENST00000301585.5	+	1	168	c.155C>G	c.(154-156)tCt>tGt	p.S52C		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	52					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					TACCCCGAATCTCAGGGCTCG	0.652											OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													34	31	32					17																	73008936		2202	4300	6502	SO:0001583	missense	0			X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.155C>G	17.37:g.73008936C>G	ENSP00000301585:p.Ser52Cys	1142	B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II	p.S52C	ENST00000301585.5	37	c.155	CCDS11711.1	17	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781805	0.31502	.	.	ENSG00000167862	ENST00000301585	T	0.30448	1.53	5.52	4.55	0.56014	.	0.300981	0.28241	N	0.016062	T	0.35008	0.0917	L	0.34521	1.04	0.09310	N	1	D	0.59767	0.986	P	0.53722	0.733	T	0.14587	-1.0467	10	0.87932	D	0	-10.9843	12.0363	0.53427	0.0:0.9202:0.0:0.0798	.	52	Q14197	ICT1_HUMAN	C	52	ENSP00000301585:S52C	ENSP00000301585:S52C	S	+	2	0	ICT1	70520531	0.244000	0.23889	0.205000	0.23548	0.919000	0.55068	1.382000	0.34374	1.335000	0.45486	-0.122000	0.15005	TCT	ICT1	-	NULL	ENSG00000167862		0.652	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICT1	HGNC	protein_coding	OTTHUMT00000445314.1	-	0	24	0	C	NM_001545		73008936	1	tier1	-	no_errors	ENST00000301585	ensembl	human	known	74_37	missense	50.00	7	7	SNP	0.103	G	G	73008936	C	G	73008936	3	3	117	1	0	0	0	0	1	0	0	0	7515	913	32	5	157	5	ICT1	17	73008936	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	6135205	73008936	8186274	142	31168											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14763720	14763720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacacctgatgaggctgcaCccttggcggaaagaacacct	12	6	11	12	1	0	3	0	2	0	1	0	5	0	4	3	3	3	2	3	3	3	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr18:14763720C>T	ENST00000358984.4	+	7	1036	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.P286S	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	286								p.P286S(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGAGGCTGCACCCTTGGCGGA	0.478																																																	1	Substitution - Missense(1)	NS(1)											29	29	29					18																	14763720		692	1591	2283	SO:0001583	missense	0			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.856C>T	18.37:g.14763720C>T	ENSP00000351875:p.Pro286Ser		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P286S	ENST00000358984.4	37	c.856	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	4.203	0.036358	0.08148	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.31769	1.53;1.48	0.235	0.235	0.15431	.	.	.	.	.	T	0.13329	0.0323	N	0.24115	0.695	0.09310	N	1	P	0.50710	0.938	B	0.34722	0.188	T	0.19353	-1.0308	8	0.16896	T	0.51	.	.	.	.	.	286	F8WAG3	.	S	286	ENSP00000351875:P286S;ENSP00000399031:P286S	ENSP00000351875:P286S	P	+	1	0	ANKRD30B	14753720	0.024000	0.19004	0.006000	0.13384	0.006000	0.05464	0.260000	0.18424	0.308000	0.22923	0.313000	0.20887	CCC	ANKRD30B	-	NULL	ENSG00000180777		0.478	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	73	0	C	NM_001145029		14763720	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	missense	33.90	37	20	SNP	0.006	T	T	14763720	C	T	14763720	3	4	117	1	0	0	0	0	1	0	0	0	659	507	18	3	882	3	ANKRD30B	18	14763720	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09		14763720	63313528	143	31169											
C18orf8	29919	genome.wustl.edu	37	chr18	21111652	21111652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagaccaagctctaatgaGgcctacaacattctgaaatc	14	9	8	10	0	2	3	0	2	2	1	3	4	2	3	2	2	3	1	2	2	5	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr18:21111652G>A	ENST00000269221.3	+	20	2068	c.1958G>A	c.(1957-1959)aGg>aAg	p.R653K	C18orf8_ENST00000590868.1_Missense_Mutation_p.R605K|C18orf8_ENST00000591367.1_3'UTR|NPC1_ENST00000269228.5_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	653						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCTCTAATGAGGCCTACAACA	0.308																																																	0													128	129	129					18																	21111652		2203	4300	6503	SO:0001583	missense	0			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1958G>A	18.37:g.21111652G>A	ENSP00000269221:p.Arg653Lys		Q9BU17|Q9Y5M0	Missense_Mutation	SNP	pfam_Mic1,superfamily_WD40_repeat_dom	p.R653K	ENST00000269221.3	37	c.1958	CCDS32803.1	18	.	.	.	.	.	.	.	.	.	.	G	6.457	0.452487	0.12283	.	.	ENSG00000141452	ENST00000269221;ENST00000540942;ENST00000542734	.	.	.	5.77	1.45	0.22620	.	0.102528	0.64402	N	0.000004	T	0.07638	0.0192	N	0.00162	-1.95	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30794	-0.9966	9	0.05833	T	0.94	-0.0278	6.6059	0.22726	0.6021:0.0:0.3979:0.0	.	653	Q96DM3	MIC1_HUMAN	K	653;605;496	.	ENSP00000269221:R653K	R	+	2	0	C18orf8	19365650	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.777000	0.47717	0.458000	0.26988	0.655000	0.94253	AGG	C18orf8	-	NULL	ENSG00000141452		0.308	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C18orf8	HGNC	protein_coding	OTTHUMT00000445386.1	-	0	28	0	G	NM_013326		21111652	1	tier1	-	no_errors	ENST00000269221	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	A	A	21111652	G	A	21111652	3	1	117	1	0	0	0	0	1	0	0	0	1914	1000	35	3	2036	3	C18orf8	18	21111652	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	6347932	21111652	56965596	144	31170											
ZNF532	55205	genome.wustl.edu	37	chr18	56651290	56651290	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcaaccactgaaaaagctGaaaatcaatgtttttaaggt	17	11	6	7	0	2	2	2	2	0	0	2	2	2	2	1	1	2	2	1	1	7	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr18:56651290G>A	ENST00000336078.4	+	11	4274	c.3498G>A	c.(3496-3498)ctG>ctA	p.L1166L	ZNF532_ENST00000589288.1_Silent_p.L1166L|ZNF532_ENST00000591083.1_Silent_p.L1166L|ZNF532_ENST00000591230.1_Silent_p.L1166L|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591808.1_Silent_p.L1166L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGAAAAAGCTGAAAATCAATG	0.498																																																	0													63	62	63					18																	56651290		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3498G>A	18.37:g.56651290G>A			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1166	ENST00000336078.4	37	c.3498	CCDS11969.1	18																																																																																			ZNF532	-	NULL	ENSG00000074657		0.498	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	-	0	63	0	G	NM_018181		56651290	1	tier1	-	no_errors	ENST00000336078	ensembl	human	known	74_37	silent	10.29	61	7	SNP	0.039	A	A	56651290	G	A	56651290	2	1	117	1	0	0	0	0	0	0	0	1	18020	1277	45	3		3	ZNF532	18	56651290	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	35539638	56651290	21425958	145	31171											
LMAN1	3998	genome.wustl.edu	37	chr18	57006155	57006155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagacttgtcttagctctCgatctcctacactctcaaat	11	13	4	13	1	4	1	1	0	4	1	7	2	4	1	1	0	2	1	1	0	4	3	rs538087229		TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr18:57006155C>A	ENST00000251047.5	-	9	1703	c.986G>T	c.(985-987)cGa>cTa	p.R329L		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	329					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)	p.R329Q(1)		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)	TCTTAGCTCTCGATCTCCTAC	0.358																																																	1	Substitution - Missense(1)	endometrium(1)											111	105	107					18																	57006155		2203	4300	6503	SO:0001583	missense	0			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.986G>T	18.37:g.57006155C>A	ENSP00000251047:p.Arg329Leu		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom	p.R329L	ENST00000251047.5	37	c.986	CCDS11974.1	18	.	.	.	.	.	.	.	.	.	.	C	34	5.313648	0.95655	.	.	ENSG00000074695	ENST00000251047	T	0.62364	0.03	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.76737	-0.2849	10	0.52906	T	0.07	-14.4892	19.7371	0.96210	0.0:1.0:0.0:0.0	.	329	P49257	LMAN1_HUMAN	L	329	ENSP00000251047:R329L	ENSP00000251047:R329L	R	-	2	0	LMAN1	55157135	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.414000	0.80117	2.836000	0.97738	0.655000	0.94253	CGA	LMAN1	-	superfamily_HMG_box_dom	ENSG00000074695		0.358	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2		0	36	0	C	NM_005570		57006155	-1			no_errors	ENST00000251047	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A	A	57006155	C	A	57006155	3	1	117	1	0	0	0	0	1	0	0	0	8866	884	31	2	566	2	LMAN1	18	57006155	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	354865	57006155	21071093	146	31172											
DNMT1	1786	genome.wustl.edu	37	chr19	10270336	10270336	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacgaaagtgcacttacctGaagcaggtcagtttgtgctg	11	10	11	9	1	1	1	1	1	0	0	1	2	1	1	1	1	4	4	1	1	3	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:10270336G>A	ENST00000340748.4	-	16	1465	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	DNMT1_ENST00000359526.4_Silent_p.F426F|DNMT1_ENST00000540357.1_Silent_p.F410F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	410	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GCACTTACCTGAAGCAGGTCA	0.517																																																	0													98	85	89					19																	10270336		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1230C>T	19.37:g.10270336G>A			A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.F426	ENST00000340748.4	37	c.1278	CCDS12228.1	19																																																																																			DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_Cytosine_MeTrfase1_RFD	ENSG00000130816		0.517	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1		0	47	0	G	NM_001379		10270336	-1			no_errors	ENST00000359526	ensembl	human	known	74_37	silent	6.82	41	3	SNP	1.000	A	A	10270336	G	A	10270336	2	1	117	1	0	0	0	0	0	0	0	1	4689	1281	45	3		3	DNMT1	19	10270336	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09		10270336	48858647	147	31173											
KRI1	84971	genome.wustl.edu	37	chr19	10666007	10666008	+	IGR	INS	-	-	AA																															caccaccggttcagctccttINSatcgtcagcagcgaggatct																										TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:10666007_10666008insAA	ENST00000309469.4	+	0	1949				KRI1_ENST00000312962.6_Frame_Shift_Ins_p.K552fs|KRI1_ENST00000361821.5_Frame_Shift_Ins_p.K548fs	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						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)			TTCAGCTCCTTATCGTCAGCAG	0.634																																																	0																																										SO:0001628	intergenic_variant	0			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		19.37:g.10666007_10666008insAA			Q969K0	Frame_Shift_Ins	INS	pfam_KRR1-interact_protein_1	p.K551fs	ENST00000309469.4	37	c.1654_1653	CCDS12241.1	19																																																																																			KRI1	-	pfam_KRR1-interact_protein_1	ENSG00000129347		0.634	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000452022.1		0	79	0	-	NM_032885		10666008	-1	tier1		no_errors	ENST00000312962	ensembl	human	known	74_37	frame_shift_ins	37.50	40	24	INS	1.000:1.000	AA	AA	10666008	-	AA	10666007	6	5	117	0	1	1	1	0	0	0	0	0	8471	1763	61	0		0	KRI1	19	10666007	IGR	INS	-	TCGA-LN-A4A8-01A-32D-A27G-09	395671	10666007	48462976	148	31174											
CYP4F12	66002	genome.wustl.edu	37	chr19	15795913	15795913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggcctctcctgggtcCtgtacaaccttgcgaggcac	6	9	11	15	1	1	0	0	0	1	0	3	1	2	0	5	3	3	2	5	3	2	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:15795913C>A	ENST00000550308.1	+	9	1401	c.1021C>A	c.(1021-1023)Ctg>Atg	p.L341M	CYP4F12_ENST00000324632.10_Missense_Mutation_p.L341M	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	341					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CTCCTGGGTCCTGTACAACCT	0.592											OREG0006800	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP4F12|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0													50	47	48					19																	15795913		2203	4300	6503	SO:0001583	missense	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1021C>A	19.37:g.15795913C>A	ENSP00000448998:p.Leu341Met	705	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.L341M	ENST00000550308.1	37	c.1021	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	11.30	1.596844	0.28445	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.82711	-1.64;-1.64	2.47	1.43	0.22495	.	0.106410	0.39210	U	0.001422	D	0.88562	0.6470	M	0.77103	2.36	0.45427	D	0.998404	D	0.89917	1.0	D	0.83275	0.996	D	0.86925	0.2069	10	0.87932	D	0	.	7.6214	0.28187	0.0:0.8593:0.0:0.1407	.	341	Q9HCS2	CP4FC_HUMAN	M	341	ENSP00000448998:L341M;ENSP00000321821:L341M	ENSP00000321821:L341M	L	+	1	2	CYP4F12	15656913	0.965000	0.33210	0.445000	0.26908	0.010000	0.07245	1.048000	0.30379	0.591000	0.29711	-0.657000	0.03884	CTG	CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000186204		0.592	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	-	0	53	0	C			15795913	1	tier1	-	no_errors	ENST00000324632	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.999	A	A	15795913	C	A	15795913	3	1	117	1	0	0	0	0	1	0	0	0	4196	680	24	3	1051	3	CYP4F12	19	15795913	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	5129906	15795913	43333070	149	31175											
ZNF302	55900	genome.wustl.edu	37	chr19	35175973	35175973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagaagccttatgaatgtaGagaatgtgggaaagctttct	14	11	12	4	0	1	3	0	1	1	2	1	6	1	4	1	1	2	2	1	1	6	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:35175973G>A	ENST00000446502.2	+	6	1371	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	ZNF302_ENST00000423823.2_Missense_Mutation_p.R344K|ZNF302_ENST00000505242.1_Missense_Mutation_p.R344K|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.R344K			Q9NR11	ZN302_HUMAN	zinc finger protein 302	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			TATGAATGTAGAGAATGTGGG	0.393																																																	0													39	40	40					19																	35175973		2200	4300	6500	SO:0001583	missense	0			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.1163G>A	19.37:g.35175973G>A	ENSP00000396379:p.Arg388Lys		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R344K	ENST00000446502.2	37	c.1031		19	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.944246	0.00052	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	T;T;T;T	0.15952	2.6;2.6;2.6;2.38	0.967	0.967	0.19674	.	.	.	.	.	T	0.07458	0.0188	N	0.17082	0.46	0.09310	N	1	B;B	0.19583	0.037;0.011	B;B	0.22386	0.039;0.005	T	0.41378	-0.9512	9	0.02654	T	1	.	4.9136	0.13835	0.0:0.3938:0.6062:0.0	.	388;344	E7EVR1;Q9NR11-2	.;.	K	344;344;344;388	ENSP00000391067:R344K;ENSP00000421028:R344K;ENSP00000405219:R344K;ENSP00000396379:R388K	ENSP00000405219:R344K	R	+	2	0	ZNF302	39867813	0.000000	0.05858	0.810000	0.32431	0.110000	0.19582	-1.253000	0.02877	0.822000	0.34565	0.467000	0.42956	AGA	ZNF302	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000089335		0.393	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	ZNF302	HGNC	protein_coding	OTTHUMT00000372731.1	-	0	65	0	G			35175973	1	tier1	-	no_errors	ENST00000423823	ensembl	human	known	74_37	missense	34.85	43	23	SNP	0.083	A	A	35175973	G	A	35175973	3	1	117	1	0	0	0	0	1	0	0	0	17880	942	33	3	1045	3	ZNF302	19	35175973	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	19380060	35175973	23953010	150	31176											
CNTD2	79935	genome.wustl.edu	37	chr19	40732494	40732494	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcctgggggcccagcgccTaacgataggcccgagccggg	6	3	18	14	4	0	0	0	0	0	0	0	2	0	0	5	5	3	0	5	5	2	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:40732494T>A	ENST00000430325.2	-	1	103	c.55A>T	c.(55-57)Agg>Tgg	p.R19W	CNTD2_ENST00000433940.1_Missense_Mutation_p.R19W|CNTD2_ENST00000513948.1_5'Flank	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	19					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						GCCCAGCGCCTAACGATAGGC	0.711																																																	0													6	9	8					19																	40732494		2123	4199	6322	SO:0001583	missense	0			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.55A>T	19.37:g.40732494T>A	ENSP00000396755:p.Arg19Trp		B4DX65	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.R19W	ENST00000430325.2	37	c.55	CCDS12551.2	19	.	.	.	.	.	.	.	.	.	.	T	12.89	2.072604	0.36566	.	.	ENSG00000105219	ENST00000430325;ENST00000433940	T	0.45276	0.9	4.45	-8.91	0.00778	.	4.300170	0.00783	N	0.001284	T	0.24699	0.0599	.	.	.	0.09310	N	1	P	0.34699	0.464	B	0.32980	0.156	T	0.24693	-1.0153	9	0.66056	D	0.02	-21.7431	2.3389	0.04254	0.1793:0.3429:0.3222:0.1556	.	19	B4DX65	.	W	19	ENSP00000396755:R19W	ENSP00000221818:R19W	R	-	1	2	CNTD2	45424334	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.476000	0.02333	-1.929000	0.01057	-1.226000	0.01582	AGG	CNTD2	-	pirsf_Cyclin_A/B/D/E	ENSG00000105219		0.711	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD2	HGNC	protein_coding	OTTHUMT00000360785.1	-	0	11	0	T	NM_024877		40732494	-1	tier1	-	no_errors	ENST00000430325	ensembl	human	known	74_37	missense	57.14	3	4	SNP	0.000	A	A	40732494	T	A	40732494	3	1	117	1	0	0	0	0	1	0	0	0	3643	1521	53	5	888	5	CNTD2	19	40732494	Missense_Mutation	SNP	T	TCGA-LN-A4A8-01A-32D-A27G-09	5556521	40732494	18396489	151	31177											
CIC	23152	genome.wustl.edu	37	chr19	42790978	42790978	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcccttggcactccttagtCcccttcctggcacccagcca	5	11	6	19	0	0	0	0	0	0	0	4	0	4	0	7	2	1	2	7	2	1	4			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:42790978C>G	ENST00000575354.2	+	2	163	c.123C>G	c.(121-123)gtC>gtG	p.V41V	CIC_ENST00000575839.2_3'UTR|CIC_ENST00000572681.2_Silent_p.V950V|CIC_ENST00000160740.3_Silent_p.V41V	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	41	Interaction with ATXN1. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACTCCTTAGTCCCCTTCCTGG	0.642			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													80	73	75					19																	42790978		2203	4300	6503	SO:0001819	synonymous_variant	0			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.123C>G	19.37:g.42790978C>G			Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.V41	ENST00000575354.2	37	c.123	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.642	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2		0	52	0	C			42790978	1			no_errors	ENST00000575354	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.995	G	G	42790978	C	G	42790978	2	3	117	1	0	0	0	0	0	0	0	1	3431	842	30	5		5	CIC	19	42790978	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	2058484	42790978	16338005	152	31178											
CIC	23152	genome.wustl.edu	37	chr19	42793154	42793154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagttgggggacctggctCagcccggccccgagctttct	5	8	13	15	2	2	0	1	0	1	0	2	2	2	1	4	4	2	3	4	4	0	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:42793154C>T	ENST00000575354.2	+	7	1086	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	CIC_ENST00000572681.2_Missense_Mutation_p.S1258L|CIC_ENST00000160740.3_Missense_Mutation_p.S349L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	349					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)				GGACCTGGCTCAGCCCGGCCC	0.642			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													47	53	51					19																	42793154		2202	4300	6502	SO:0001583	missense	0			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.1046C>T	19.37:g.42793154C>T	ENSP00000458663:p.Ser349Leu		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S349L	ENST00000575354.2	37	c.1046	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023267	0.54683	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	T	0.18759	0.0450	N	0.02539	-0.55	0.33398	D	0.576912	P	0.37466	0.596	B	0.29862	0.108	T	0.33650	-0.9860	8	0.87932	D	0	-9.5351	13.1435	0.59448	0.0:1.0:0.0:0.0	.	349	Q96RK0	CIC_HUMAN	L	349	.	ENSP00000160740:S349L	S	+	2	0	CIC	47484994	0.984000	0.35163	0.994000	0.49952	0.967000	0.64934	1.770000	0.38532	2.475000	0.83589	0.555000	0.69702	TCA	CIC	-	NULL	ENSG00000079432		0.642	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	-	0	35	0	C			42793154	1	tier1	-	no_errors	ENST00000575354	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.998	T	T	42793154	C	T	42793154	3	4	117	1	0	0	0	0	1	0	0	0	3431	838	29	3	1072	3	CIC	19	42793154	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	2176	42793154	16335829	153	31179											
MEGF8	1954	genome.wustl.edu	37	chr19	42861130	42861130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accctgcaatggcggcaggaGaaggtgagcatctctcccca	10	6	12	13	1	1	2	0	1	1	1	3	3	2	2	3	4	2	3	3	4	2	0			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:42861130G>C	ENST00000251268.6	+	27	4827	c.4827G>C	c.(4825-4827)gaG>gaC	p.E1609D	MEGF8_ENST00000334370.4_Missense_Mutation_p.E1542D	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1609					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)				GGCGGCAGGAGAAGGTGAGCA	0.627																																																	0													35	28	30					19																	42861130		2203	4297	6500	SO:0001583	missense	0			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.4827G>C	19.37:g.42861130G>C	ENSP00000251268:p.Glu1609Asp		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.E1609D	ENST00000251268.6	37	c.4827		19	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775296	0.49786	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.63744	-0.06;-0.06	5.32	5.32	0.75619	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.229124	0.37530	N	0.002049	T	0.53610	0.1807	N	0.08118	0	0.80722	D	1	P;D	0.57257	0.918;0.979	P;P	0.55999	0.53;0.789	T	0.60791	-0.7193	10	0.72032	D	0.01	-25.7615	10.0121	0.41992	0.0918:0.0:0.9082:0.0	.	1609;1542	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	D	1542;1609	ENSP00000334219:E1542D;ENSP00000251268:E1609D	ENSP00000251268:E1609D	E	+	3	2	MEGF8	47552970	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.729000	0.38115	2.511000	0.84671	0.563000	0.77884	GAG	MEGF8	-	superfamily_Gal_Oxase/kelch_b-propeller	ENSG00000105429		0.627	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0	32	0	G	NM_001410		42861130	1			no_errors	ENST00000251268	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	C	C	42861130	G	C	42861130	3	2	117	1	0	0	0	0	1	0	0	0	9501	933	33	5	4728	5	MEGF8	19	42861130	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	67976	42861130	16267853	154	31180											
LYPD3	27076	genome.wustl.edu	37	chr19	43969651	43969651	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcagcagacccacctccgcGaagcagcagcagcagcagcc	11	1	12	17	2	0	1	0	0	0	1	1	2	1	1	4	1	7	7	4	1	1	0			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:43969651G>C	ENST00000244333.3	-	1	161	c.73C>G	c.(73-75)Cgc>Ggc	p.R25G		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	25					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)				CCACCTCCGCGAAGCAGCAGC	0.672																																																	0													81	74	77					19																	43969651		2203	4300	6503	SO:0001583	missense	0			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.73C>G	19.37:g.43969651G>C	ENSP00000244333:p.Arg25Gly		Q9UJ74	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.R25G	ENST00000244333.3	37	c.73	CCDS12620.1	19	.	.	.	.	.	.	.	.	.	.	G	4.061	0.009070	0.07912	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.12039	2.72	3.5	1.38	0.22167	.	3.760790	0.01104	N	0.005447	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	B;B	0.18166	0.026;0.026	B;B	0.16722	0.01;0.016	T	0.27157	-1.0082	10	0.25106	T	0.35	.	5.7921	0.18367	0.257:0.0:0.743:0.0	.	25;25	B2RBR3;O95274	.;LYPD3_HUMAN	G	25	ENSP00000244333:R25G	ENSP00000244333:R25G	R	-	1	0	LYPD3	48661491	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.274000	0.02820	0.449000	0.26747	-0.343000	0.07986	CGC	LYPD3	-	NULL	ENSG00000124466		0.672	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD3	HGNC	protein_coding	OTTHUMT00000463177.1	-	0	104	0	G	NM_014400		43969651	-1	tier1	-	no_errors	ENST00000244333	ensembl	human	known	74_37	missense	15.66	70	13	SNP	0.000	C	C	43969651	G	C	43969651	3	2	117	1	0	0	0	0	1	0	0	0	9147	1058	37	5	987	5	LYPD3	19	43969651	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	1108521	43969651	15159332	155	31181											
CEACAM18	729767	genome.wustl.edu	37	chr19	51986564	51986564	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccatgagtgcagcagctccCctccaggctcatgctttgca	7	9	9	16	0	1	1	1	1	0	0	3	1	3	1	4	1	5	6	4	1	0	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:51986564C>A	ENST00000396477.4	+	4	974				CEACAM18_ENST00000451626.1_Missense_Mutation_p.P384T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGCAGCTCCCCTCCAGGCTC	0.602																																																	0													48	50	50					19																	51986564		2135	4239	6374	SO:0001627	intron_variant	0					19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.953+14C>A	19.37:g.51986564C>A			C9JN24	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P384T	ENST00000396477.4	37	c.1150		19	.	.	.	.	.	.	.	.	.	.	.	2.028	-0.423071	0.04734	.	.	ENSG00000213822	ENST00000451626	T	0.04862	3.54	1.91	-0.466	0.12153	.	.	.	.	.	T	0.02970	0.0088	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.47071	-0.9145	8	.	.	.	.	2.5314	0.04703	0.2857:0.5365:0.0:0.1778	.	384	A8MTB9	CEA18_HUMAN	T	384	ENSP00000402203:P384T	.	P	+	1	0	CEACAM18	56678376	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.222000	0.17699	0.004000	0.14682	-0.365000	0.07479	CCT	CEACAM18	-	NULL	ENSG00000213822		0.602	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	-	0	61	0	C			51986564	1	tier1	-	no_errors	ENST00000451626	ensembl	human	known	74_37	missense	45.45	23	20	SNP	0.002	A	A	51986564	C	A	51986564	1	1	117	0	1	0	0	0	0	0	0	0	3196	623	22	3		3	CEACAM18	19	51986564	Intron	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	8016913	51986564	7142419	156	31182											
ZNF578	147660	genome.wustl.edu	37	chr19	53014448	53014448	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagtctttaatgagaagCgataccttgcacgccatcgt	12	10	9	10	3	1	1	0	1	1	1	2	3	1	1	2	0	3	2	2	0	4	4			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:53014448C>T	ENST00000421239.2	+	6	1058	c.814C>T	c.(814-816)Cga>Tga	p.R272*	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TAATGAGAAGCGATACCTTGC	0.368																																																	0													111	116	114					19																	53014448		2202	4299	6501	SO:0001587	stop_gained	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.814C>T	19.37:g.53014448C>T	ENSP00000459216:p.Arg272*		B4DR51|I3L1Y6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R272*	ENST00000421239.2	37	c.814	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	15.27	2.784303	0.49997	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.3	-2.59	0.06209	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8938	0.01260	0.1976:0.3792:0.1984:0.2248	.	.	.	.	X	272	.	.	R	+	1	2	ZNF578	57706260	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.762000	0.01803	-0.202000	0.10268	0.297000	0.19635	CGA	ZNF578	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000258405		0.368	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	-	0	88	0	C	NM_152472		53014448	1	tier1	-	no_errors	ENST00000421239	ensembl	human	known	74_37	nonsense	6.10	76	5	SNP	0.000	T	T	53014448	C	T	53014448	4	4	117	1	0	0	0	0	0	1	0	0	18058	760	27	1	824	1	ZNF578	19	53014448	Nonsense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	1027884	53014448	6114535	157	31183											
LENG9	94059	genome.wustl.edu	37	chr19	54973717	54973717	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgagagggcactaggaaGttggcgcagtgtggggccac	8	8	17	8	1	1	1	0	1	1	1	1	3	1	2	1	5	0	3	1	5	2	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:54973717G>A	ENST00000333834.4	-	1	1177	c.1059C>T	c.(1057-1059)aaC>aaT	p.N353N		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	353							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GCACTAGGAAGTTGGCGCAGT	0.637																																																	0													70	65	66					19																	54973717		2203	4300	6503	SO:0001819	synonymous_variant	0			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1059C>T	19.37:g.54973717G>A			B2VAM3	Silent	SNP	superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH	p.N353	ENST00000333834.4	37	c.1059	CCDS12895.2	19																																																																																			LENG9	-	superfamily_RNA_ligase/cNuc_Pdiesterase	ENSG00000182909		0.637	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG9	HGNC	protein_coding	OTTHUMT00000140806.3	-	0	78	0	G	NM_198988		54973717	-1	tier1	-	no_errors	ENST00000333834	ensembl	human	known	74_37	silent	23.94	54	17	SNP	0.000	A	A	54973717	G	A	54973717	2	1	117	1	0	0	0	0	0	0	0	1	8753	1020	36	3		3	LENG9	19	54973717	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	1959269	54973717	4155266	158	31184											
NLRP7	199713	genome.wustl.edu	37	chr19	55452840	55452840	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatcttacacaattccgtGagattcatctcttccaagat	11	13	5	12	1	3	2	1	1	2	2	6	3	5	2	3	0	1	0	3	0	3	4			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:55452840G>C	ENST00000590030.1	-	1	280	c.240C>G	c.(238-240)ctC>ctG	p.L80L	NLRP7_ENST00000592784.1_Silent_p.L80L|NLRP7_ENST00000588756.1_Silent_p.L80L|NLRP7_ENST00000448121.2_Silent_p.L80L|NLRP7_ENST00000446217.1_Silent_p.L108L|NLRP7_ENST00000328092.5_Silent_p.L80L|NLRP7_ENST00000340844.2_Silent_p.L80L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	80	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						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)		ACAATTCCGTGAGATTCATCT	0.403																																																	0													133	138	136					19																	55452840		2203	4300	6503	SO:0001819	synonymous_variant	0			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.240C>G	19.37:g.55452840G>C			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L108	ENST00000590030.1	37	c.324	CCDS33109.1	19																																																																																			NLRP7	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	ENSG00000167634		0.403	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1		0	56	0	G	NM_139176		55452840	-1			no_errors	ENST00000446217	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.000	C	C	55452840	G	C	55452840	2	2	117	1	0	0	0	0	0	0	0	1	10521	1277	45	5		5	NLRP7	19	55452840	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	479123	55452840	3676143	159	31185											
ZNF460	10794	genome.wustl.edu	37	chr19	57802468	57802468	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcttccttgttcagcatGagcagattctccctcgtgtg	6	15	9	11	1	2	2	1	1	1	1	5	2	3	2	2	0	3	4	2	0	0	5			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr19:57802468G>C	ENST00000360338.3	+	3	881	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	ZNF460_ENST00000537645.1_Missense_Mutation_p.E146Q	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTCAGCATGAGCAGATTCT	0.438																																																	0													89	88	88					19																	57802468		2203	4300	6503	SO:0001583	missense	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.559G>C	19.37:g.57802468G>C	ENSP00000353491:p.Glu187Gln		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E187Q	ENST00000360338.3	37	c.559	CCDS12949.1	19	.	.	.	.	.	.	.	.	.	.	G	1.396	-0.579341	0.03854	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.13657	2.57;2.57	1.54	-2.58	0.06228	.	.	.	.	.	T	0.03783	0.0107	N	0.04162	-0.26	0.09310	N	0.999998	B	0.18166	0.026	B	0.10450	0.005	T	0.40213	-0.9575	9	0.02654	T	1	.	3.6902	0.08343	0.3247:0.4152:0.2601:0.0	.	187	Q14592	ZN460_HUMAN	Q	146;187	ENSP00000446167:E146Q;ENSP00000353491:E187Q	ENSP00000353491:E187Q	E	+	1	0	ZNF460	62494280	0.000000	0.05858	0.017000	0.16124	0.738000	0.42128	-0.227000	0.09126	-0.682000	0.05197	0.555000	0.69702	GAG	ZNF460	-	NULL	ENSG00000197714		0.438	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	HGNC	protein_coding	OTTHUMT00000465727.1	-	0	37	0	G	NM_006635		57802468	1	tier1	-	no_errors	ENST00000360338	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.486	C	C	57802468	G	C	57802468	3	2	117	1	0	0	0	0	1	0	0	0	17972	1291	45	5	569	5	ZNF460	19	57802468	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	2349628	57802468	1326515	160	31186											
PARD6B	84612	genome.wustl.edu	37	chr20	49366851	49366851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagctgttcctaatactgaGagcctggagtcattaacaca	14	10	8	9	0	1	1	1	1	0	1	2	3	2	2	2	1	4	2	2	1	4	4			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr20:49366851G>C	ENST00000371610.2	+	3	1188	c.945G>C	c.(943-945)gaG>gaC	p.E315D	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	315					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						CTAATACTGAGAGCCTGGAGT	0.443																																																	0													114	108	110					20																	49366851		2203	4300	6503	SO:0001583	missense	0			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.945G>C	20.37:g.49366851G>C	ENSP00000360672:p.Glu315Asp		A2A2A7|Q9Y510	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.E315D	ENST00000371610.2	37	c.945	CCDS33485.1	20	.	.	.	.	.	.	.	.	.	.	G	8.068	0.769553	0.15983	.	.	ENSG00000124171	ENST00000371610	T	0.14516	2.5	5.73	2.68	0.31781	.	0.495363	0.21989	N	0.066196	T	0.10551	0.0258	L	0.51422	1.61	0.80722	D	1	B	0.16166	0.016	B	0.14023	0.01	T	0.15780	-1.0425	10	0.12430	T	0.62	-10.6563	6.0685	0.19875	0.2647:0.1347:0.6007:0.0	.	315	Q9BYG5	PAR6B_HUMAN	D	315	ENSP00000360672:E315D	ENSP00000360672:E315D	E	+	3	2	PARD6B	48800258	0.952000	0.32445	0.681000	0.30009	0.302000	0.27658	0.686000	0.25392	0.333000	0.23563	0.591000	0.81541	GAG	PARD6B	-	NULL	ENSG00000124171		0.443	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6B	HGNC	protein_coding	OTTHUMT00000079697.2	-	0	49	0	G	NM_032521		49366851	1	tier1	-	no_errors	ENST00000371610	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.948	C	C	49366851	G	C	49366851	3	2	117	1	0	0	0	0	1	0	0	0	11485	933	33	5	955	5	PARD6B	20	49366851	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09		49366851	13658669	161	31187											
PARD6B	84612	genome.wustl.edu	37	chr20	49367006	49367006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaactcttagaagaagatgGaacaatcataacattatgaa	21	9	6	5	0	2	4	1	1	1	3	2	5	2	5	0	1	3	0	0	1	10	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr20:49367006G>A	ENST00000371610.2	+	3	1343	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	367					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						GAAGAAGATGGAACAATCATA	0.383																																																	0													45	43	44					20																	49367006		2203	4300	6503	SO:0001583	missense	0			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.1100G>A	20.37:g.49367006G>A	ENSP00000360672:p.Gly367Glu		A2A2A7|Q9Y510	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.G367E	ENST00000371610.2	37	c.1100	CCDS33485.1	20	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816293	0.90790	.	.	ENSG00000124171	ENST00000371610	T	0.33654	1.4	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66980	-0.5786	10	0.87932	D	0	-29.6151	19.8928	0.96935	0.0:0.0:1.0:0.0	.	367	Q9BYG5	PAR6B_HUMAN	E	367	ENSP00000360672:G367E	ENSP00000360672:G367E	G	+	2	0	PARD6B	48800413	1.000000	0.71417	0.838000	0.33150	0.841000	0.47740	7.797000	0.85911	2.713000	0.92767	0.591000	0.81541	GGA	PARD6B	-	NULL	ENSG00000124171		0.383	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6B	HGNC	protein_coding	OTTHUMT00000079697.2		0	17	0	G	NM_032521		49367006	1			no_errors	ENST00000371610	ensembl	human	known	74_37	missense	46.15	7	6	SNP	1.000	A	A	49367006	G	A	49367006	3	1	117	1	0	0	0	0	1	0	0	0	11485	1174	41	3	1110	3	PARD6B	20	49367006	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	155	49367006	13658514	162	31188											
IL17RA	23765	genome.wustl.edu	37	chr22	17578725	17578725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggattcaccctcgaaacCtgaccccctcctccccaaag	9	7	6	19	1	1	1	1	1	0	0	4	3	3	2	7	1	1	1	7	1	2	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr22:17578725C>T	ENST00000319363.6	+	3	335	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	68					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)		CCCTCGAAACCTGACCCCCTC	0.572																																																	0													116	88	97					22																	17578725		2203	4300	6503	SO:0001819	synonymous_variant	0			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.202C>T	22.37:g.17578725C>T			O43844|Q20WK1	Silent	SNP	pfam_SEFIR	p.L68	ENST00000319363.6	37	c.202	CCDS13739.1	22																																																																																			IL17RA	-	NULL	ENSG00000177663		0.572	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RA	HGNC	protein_coding	OTTHUMT00000315820.1	-	0	61	0	C	NM_014339		17578725	1	tier1	-	no_errors	ENST00000319363	ensembl	human	known	74_37	silent	36.00	32	18	SNP	0.393	T	T	17578725	C	T	17578725	2	4	117	1	0	0	0	0	0	0	0	1	7666	680	24	3		3	IL17RA	22	17578725	Silent	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09		17578725	33725841	163	31189											
SEPT5	5413	genome.wustl.edu	37	chr22	19708187	19708187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatccggaagctgaaggagCgggtgagcctgccgtcgcac	9	5	16	11	4	0	3	0	2	0	1	2	5	1	5	3	3	4	2	3	3	2	0			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr22:19708187C>T	ENST00000455784.2	+	7	738	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	SEPT5_ENST00000383045.3_Missense_Mutation_p.R214W|SEPT5_ENST00000406395.1_Missense_Mutation_p.R205W|SEPT5_ENST00000438754.2_Missense_Mutation_p.R214W|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	205	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)					GCTGAAGGAGCGGGTGAGCCT	0.597																																																	0													52	50	50					22																	19708187		2203	4300	6503	SO:0001583	missense	0			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.613C>T	22.37:g.19708187C>T	ENSP00000391311:p.Arg205Trp		O15251|Q96MY5	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.R214W	ENST00000455784.2	37	c.640	CCDS13764.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.76|14.76	2.630420|2.630420	0.46944|0.46944	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000413258|ENST00000455784;ENST00000406395;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	.|T;T;T;T;T;T;T	.|0.54866	.|0.55;0.55;0.55;0.55;0.55;0.55;0.55	3.13|3.13	2.06|2.06	0.26882|0.26882	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75317|0.75317	0.3833|0.3833	M|M	0.92317|0.92317	3.295|3.295	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.79004|0.79004	-0.1980|-0.1980	5|10	.|0.87932	.|D	.|0	.|.	10.2822|10.2822	0.43545|0.43545	0.4402:0.5598:0.0:0.0|0.4402:0.5598:0.0:0.0	.|.	.|205	.|Q99719	.|SEPT5_HUMAN	V|W	70|205;205;158;243;214;214;158	.|ENSP00000391311:R205W;ENSP00000384535:R205W;ENSP00000408678:R158W;ENSP00000414488:R243W;ENSP00000372515:R214W;ENSP00000394541:R214W;ENSP00000378541:R158W	.|ENSP00000372515:R214W	A|R	+|+	2|1	0|2	SEPT5|SEPT5	18088187|18088187	0.924000|0.924000	0.31332|0.31332	0.998000|0.998000	0.56505|0.56505	0.312000|0.312000	0.27988|0.27988	1.653000|1.653000	0.37323|0.37323	0.813000|0.813000	0.34350|0.34350	0.313000|0.313000	0.20887|0.20887	GCG|CGG	SEPT5	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000184702		0.597	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	HGNC	protein_coding	OTTHUMT00000317937.1		0	55	0	C	NM_002688		19708187	1			no_errors	ENST00000383045	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.998	T	T	19708187	C	T	19708187	3	4	117	1	0	0	0	0	1	0	0	0	14112	759	27	1	639	1	SEPT5	22	19708187	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	2129462	19708187	31596379	164	31190											
TXNRD2	10587	genome.wustl.edu	37	chr22	19885562	19885562	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggcctccagcactacCtggtcgaagccgcggagggg	6	5	17	13	3	0	0	0	0	0	0	2	2	1	1	4	6	3	2	4	6	2	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chr22:19885562C>A	ENST00000400521.1	-	10	780	c.774G>T	c.(772-774)caG>caT	p.Q258H	TXNRD2_ENST00000400518.1_Splice_Site_p.Q228H|TXNRD2_ENST00000400519.1_Splice_Site_p.Q257H|TXNRD2_ENST00000334363.9_Splice_Site_p.Q258H|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Splice_Site_p.Q228H|TXNRD2_ENST00000535882.1_Splice_Site_p.Q257H	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	258					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CCAGCACTACCTGGTCGAAGC	0.662																																																	0													17	21	20					22																	19885562		2040	4133	6173	SO:0001630	splice_region_variant	0			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.774+1G>T	22.37:g.19885562C>A			O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.Q257H	ENST00000400521.1	37	c.771	CCDS42981.1	22	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056246	0.76074	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39	4.36	4.36	0.52297	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.75020	0.972;0.985;0.972;0.972	T	0.74538	-0.3632	9	.	.	.	1.5582	17.2922	0.87160	0.0:1.0:0.0:0.0	.	258;258;226;257	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	H	228;258;258;235;162;257;257;228;258	ENSP00000383362:Q228H;ENSP00000383365:Q258H;ENSP00000383369:Q235H;ENSP00000383363:Q257H;ENSP00000439314:Q257H;ENSP00000439570:Q228H;ENSP00000334451:Q258H	.	Q	-	3	2	TXNRD2	18265562	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	5.398000	0.66308	2.170000	0.68504	0.561000	0.74099	CAG	TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000184470		0.662	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	-	0	25	0	C	NM_006440	Missense_Mutation	19885562	-1	tier1	-	no_errors	ENST00000535882	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	A	A	19885562	C	A	19885562	5	1	117	1	0	0	0	0	0	0	1	0	16857	695	24	3	832	3	TXNRD2	22	19885562	Splice_Site	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	177375	19885562	31419004	165	31191											
SLC25A6	293	genome.wustl.edu	37	chrX	1506281	1506281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgatcatccagctcaccacGatgtgcgtgttcttggggtc	6	11	12	12	3	3	0	2	0	1	0	5	2	4	0	2	2	2	2	2	2	0	2			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:1506281G>A	ENST00000381401.5	-	3	1344	c.630C>T	c.(628-630)atC>atT	p.I210I	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	210					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)	AGCTCACCACGATGTGCGTGT	0.701																																																	0													111	94	100					X																	1506281		2203	4296	6499	SO:0001819	synonymous_variant	0			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.630C>T	X.37:g.1506281G>A			Q96C49	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.I210	ENST00000381401.5	37	c.630	CCDS14114.1	X																																																																																			SLC25A6	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom	ENSG00000169100		0.701	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	HGNC	protein_coding	OTTHUMT00000055596.1	-	0	58	0	G	NM_001636		1506281	-1	tier1	-	no_errors	ENST00000381401	ensembl	human	known	74_37	silent	28.77	52	21	SNP	0.965	A	A	1506281	G	A	1506281	2	1	117	1	0	0	0	0	0	0	0	1	14558	1048	37	1		1	SLC25A6	23	1506281	Silent	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09		1506281	153764279	166	31192											
GATA1	2623	genome.wustl.edu	37	chrX	48650412	48650412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagatctggatggaaaaGgcagcaccagcttcctggag	12	7	14	8	0	1	1	0	0	1	1	2	5	2	5	2	5	2	3	2	5	3	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:48650412G>A	ENST00000376670.3	+	3	493	c.382G>A	c.(382-384)Ggc>Agc	p.G128S	GATA1_ENST00000376665.3_Missense_Mutation_p.G128S	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	128					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)	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GGATGGAAAAGGCAGCACCAG	0.622			"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	2	Unknown(2)	haematopoietic_and_lymphoid_tissue(2)											59	50	53					X																	48650412		2203	4300	6503	SO:0001583	missense	0			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.382G>A	X.37:g.48650412G>A	ENSP00000365858:p.Gly128Ser		Q96GB8	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G128S	ENST00000376670.3	37	c.382	CCDS14305.1	X	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185668	0.21870	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.97430	-4.38;-4.19	4.46	1.19	0.21007	.	1.384810	0.04313	N	0.349279	D	0.90985	0.7165	N	0.14661	0.345	0.23862	N	0.996638	B	0.02656	0.0	B	0.06405	0.002	T	0.83186	-0.0086	10	0.11794	T	0.64	0.0608	3.2652	0.06863	0.2841:0.0:0.5129:0.203	.	128	P15976	GATA1_HUMAN	S	128	ENSP00000365858:G128S;ENSP00000365853:G128S	ENSP00000365853:G128S	G	+	1	0	GATA1	48535356	1.000000	0.71417	0.006000	0.13384	0.877000	0.50540	3.802000	0.55553	0.086000	0.17137	0.492000	0.49549	GGC	GATA1	-	pirsf_TF_GATA-1/2/3	ENSG00000102145		0.622	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	-	0	50	0	G	NM_002049		48650412	1	tier1	-	no_errors	ENST00000376670	ensembl	human	known	74_37	missense	70.59	10	24	SNP	0.741	A	A	48650412	G	A	48650412	3	1	117	1	0	0	0	0	1	0	0	0	6278	1000	35	3	388	3	GATA1	23	48650412	Missense_Mutation	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	47144131	48650412	106620148	167	31193											
DACH2	117154	genome.wustl.edu	37	chrX	85994844	85994845	+	Nonsense_Mutation	DNP	CC	CC	AG																															ccacaccagcagcagtgtgtCcagctctccctctcagatgg																										TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:85994844_85994845CC>AG	ENST00000373125.4	+	7	1199_1200	c.1199_1200CC>AG	c.(1198-1200)tCC>tAG	p.S400*	DACH2_ENST00000510272.1_Nonsense_Mutation_p.S181*|DACH2_ENST00000508860.1_Nonsense_Mutation_p.S233*|DACH2_ENST00000373131.1_Nonsense_Mutation_p.S387*	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	400					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						AGCAGTGTGTCCAGCTCTCCCT	0.47																																																	0																																										SO:0001587	stop_gained	0			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	Exception_encountered	X.37:g.85994844_85994845delinsAG	ENSP00000362217:p.Ser400*		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation|Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.S400Y|p.S400	ENST00000373125.4	37	c.1199|c.1200	CCDS14455.1	X																																																																																			DACH2	-	NULL	ENSG00000126733		0.47	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	-	0	17	0	C	NM_053281		85994844|85994845	1	tier1	-	no_errors	ENST00000373125	ensembl	human	known	74_37	missense|silent	72.73|76.19	5	16	SNP	1.000	A|G	AG	85994845	CC	AG	85994844	4	1	117	1	0	0	0	0	0	1	0	0	4230	855	30	3	1225	3	DACH2	23	85994844	Nonsense_Mutation	DNP	CC	TCGA-LN-A4A8-01A-32D-A27G-09	37344432	85994844	69275716	168	31194											
RIPPLY1	9075	genome.wustl.edu	37	chrX	106145440	106145440	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagggcctccagagacaaGttcctctgggacaaagagga	12	5	13	11	0	1	2	0	0	1	2	3	5	3	4	4	3	0	1	4	3	2	1			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:106145440G>T	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000411805.1_Intron|RIPPLY1_ENST00000276173.4_Missense_Mutation_p.T54N	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCAGAGACAAGTTCCTCTGGG	0.527																																																	0													55	51	52					X																	106145440		1958	4131	6089	SO:0001627	intron_variant	0			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"Claudins"	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+1706G>T	X.37:g.106145440G>T			B2R6B9	Missense_Mutation	SNP	NULL	p.T54N	ENST00000541806.1	37	c.161	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	G	9.678	1.148518	0.21288	.	.	ENSG00000147223	ENST00000276173	.	.	.	4.06	1.2	0.21068	.	1.020290	0.07876	N	0.968671	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B	0.18968	0.032	B	0.21917	0.037	T	0.27905	-1.0060	9	0.51188	T	0.08	.	1.8776	0.03221	0.1194:0.2009:0.469:0.2107	.	54	Q0D2K3	RIPP1_HUMAN	N	54	.	ENSP00000276173:T54N	T	-	2	0	RIPPLY1	106032096	0.001000	0.12720	0.013000	0.15412	0.765000	0.43378	0.727000	0.25999	0.116000	0.18110	0.436000	0.28706	ACT	RIPPLY1	-	NULL	ENSG00000147223		0.527	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPPLY1	HGNC	protein_coding	OTTHUMT00000057815.1		0	16	0	G			106145440	-1			no_errors	ENST00000276173	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.016	T	T	106145440	G	T	106145440	1	4	117	0	1	0	0	0	0	0	0	0	13429	1029	36	3		3	RIPPLY1	23	106145440	Intron	SNP	G	TCGA-LN-A4A8-01A-32D-A27G-09	20150596	106145440	49125120	169	31195											
AMOT	154796	genome.wustl.edu	37	chrX	112065833	112065833	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgcattagtcgttcactCaaggaacggacatgcccttg	10	11	9	11	2	3	0	2	0	1	0	4	2	3	2	1	2	3	2	1	2	3	3			TCGA-LN-A4A8-01A-32D-A27G-09	TCGA-LN-A4A8-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ebed6452-e3f7-49f5-9596-9ac4a0add3eb	06c9b1ff-4f68-402f-889f-6b6a8d0c7947	g.chrX:112065833C>G	ENST00000524145.1	-	2	596	c.522G>C	c.(520-522)ttG>ttC	p.L174F	AMOT_ENST00000371959.3_Missense_Mutation_p.L174F|AMOT_ENST00000371958.1_5'Flank|AMOT_ENST00000371962.1_5'Flank|AMOT_ENST00000304758.1_Intron|AMOT_ENST00000462114.1_5'Flank			Q4VCS5	AMOT_HUMAN	angiomotin	174					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GTCGTTCACTCAAGGAACGGA	0.547																																																	0													264	191	213					X																	112065833		692	1591	2283	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.522G>C	X.37:g.112065833C>G	ENSP00000429013:p.Leu174Phe		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.L174F	ENST00000524145.1	37	c.522	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796188	0.50208	.	.	ENSG00000126016	ENST00000371959;ENST00000524145	T;T	0.21031	2.03;2.03	5.8	1.57	0.23409	.	0.000000	0.64402	D	0.000001	T	0.40347	0.1113	M	0.79926	2.475	0.46167	D	0.998908	D	0.76494	0.999	D	0.77004	0.989	T	0.15954	-1.0419	9	.	.	.	-5.8246	5.1394	0.14952	0.0:0.4949:0.2476:0.2575	.	174	Q4VCS5	AMOT_HUMAN	F	174	ENSP00000361027:L174F;ENSP00000429013:L174F	.	L	-	3	2	AMOT	111952489	0.317000	0.24589	1.000000	0.80357	0.996000	0.88848	-0.318000	0.08050	0.558000	0.29135	0.600000	0.82982	TTG	AMOT	-	NULL	ENSG00000126016		0.547	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1		0	17	0	C	NM_133265		112065833	-1			no_errors	ENST00000371959	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.999	G	G	112065833	C	G	112065833	3	3	117	1	0	0	0	0	1	0	0	0	582	825	29	5	2776	5	AMOT	23	112065833	Missense_Mutation	SNP	C	TCGA-LN-A4A8-01A-32D-A27G-09	5920393	112065833	43204727	170	31196											
STMN1	3925	genome.wustl.edu	37	chr1	26228032	26228032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttgtgcctctcggttctCtttattagcttccattttgt	4	21	6	10	1	2	0	0	0	2	0	5	0	3	0	2	1	2	2	2	1	2	8			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:26228032C>T	ENST00000399728.1	-	4	691	c.328G>A	c.(328-330)Gag>Aag	p.E110K	STMN1_ENST00000357865.2_Missense_Mutation_p.E110K|STMN1_ENST00000426559.2_Missense_Mutation_p.E110K|STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000374291.1_Missense_Mutation_p.E110K|STMN1_ENST00000455785.2_Missense_Mutation_p.E110K	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	110	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				axonogenesis (GO:0007409)|intracellular signal transduction (GO:0035556)|microtubule depolymerization (GO:0007019)|mitotic spindle organization (GO:0007052)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of cellular component movement (GO:0051272)|response to virus (GO:0009615)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|microtubule (GO:0005874)	signal transducer activity (GO:0004871)|tubulin binding (GO:0015631)			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|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;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCGGTTCTCTTTATTAGCT	0.428																																																	0													245	232	237					1																	26228032		2203	4300	6503	SO:0001583	missense	0			J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632			6510	protein-coding gene	gene with protein product	"oncoprotein 18"	151442	"chromosome 1 open reading frame 215", "stathmin 1/oncoprotein 18"	LAP18, C1orf215		2917975	Standard	NM_005563		Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.328G>A	1.37:g.26228032C>T	ENSP00000382633:p.Glu110Lys		A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	Missense_Mutation	SNP	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	p.E110K	ENST00000399728.1	37	c.328	CCDS269.1	1	.	.	.	.	.	.	.	.	.	.	C	37	5.987591	0.97173	.	.	ENSG00000117632	ENST00000426559;ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291	.	.	.	5.87	5.87	0.94306	.	0.107942	0.64402	D	0.000004	D	0.85617	0.5738	M	0.89785	3.06	0.44890	D	0.997906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.86138	0.1579	9	0.46703	T	0.11	.	18.9906	0.92789	0.0:1.0:0.0:0.0	.	110;110;110	P16949-2;B5BU83;P16949	.;.;STMN1_HUMAN	K	110	.	ENSP00000350531:E110K	E	-	1	0	STMN1	26100619	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.715000	0.84713	2.780000	0.95670	0.655000	0.94253	GAG	STMN1	-	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	ENSG00000117632		0.428	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STMN1	HGNC	protein_coding	OTTHUMT00000019359.1	-	0	55	0	C	NM_005563		26228032	-1	tier1	-	no_errors	ENST00000426559	ensembl	human	known	74_37	missense	44.19	24	19	SNP	1.000	T	T	26228032	C	T	26228032	3	4	118	1	0	0	0	0	1	0	0	0	15355	922	32	3	280	3	STMN1	1	26228032	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09		26228032	223022589	1	31197											
MPL	4352	genome.wustl.edu	37	chr1	43804213	43804213	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacctcttctatgccaacagGgagaagccccgtgcttgccc	8	8	10	15	1	2	1	0	0	2	1	2	3	2	1	5	1	5	1	5	1	3	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:43804213G>A	ENST00000372470.3	+	3	255	c.213G>A	c.(211-213)cgG>cgA	p.R71R	MPL_ENST00000413998.2_Splice_Site_p.R71R	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	71					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)	ATGCCAACAGGGAGAAGCCCC	0.587			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													69	67	68					1																	43804213		2203	4300	6503	SO:0001630	splice_region_variant	0			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.213-1G>A	1.37:g.43804213G>A			Q5JUZ0	Silent	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R71	ENST00000372470.3	37	c.213	CCDS483.1	1																																																																																			MPL	-	pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3	ENSG00000117400		0.587	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPL	HGNC	protein_coding	OTTHUMT00000019522.1	-	0	51	0	G	NM_005373	Silent	43804213	1	tier1	-	no_errors	ENST00000372470	ensembl	human	known	74_37	silent	12.07	102	14	SNP	1.000	A	A	43804213	G	A	43804213	5	1	118	1	0	0	0	0	0	0	1	0	9768	1246	43	3	223	3	MPL	1	43804213	Splice_Site	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	17576181	43804213	205446408	2	31198											
KIAA0467	23334	genome.wustl.edu	37	chr1	43902856	43902856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccagattatgctgctgatGagagctgtgcgccccgtggg	7	9	14	11	2	0	3	0	2	0	2	0	4	0	3	3	1	4	3	3	1	1	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:43902856G>A	ENST00000562955.1	+	42	5878	c.5878G>A	c.(5878-5880)Gag>Aag	p.E1960K	SZT2_ENST00000372442.1_Missense_Mutation_p.E1118K	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2017					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						TGCTGCTGATGAGAGCTGTGC	0.567																																																	0													114	112	113					1																	43902856		2203	4300	6503	SO:0001583	missense	0			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.5878G>A	1.37:g.43902856G>A	ENSP00000457168:p.Glu1960Lys		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.E1960K	ENST00000562955.1	37	c.5878	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472675	0.84640	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.86	5.86	0.93980	.	0.052409	0.85682	D	0.000000	T	0.62925	0.2468	L	0.43152	1.355	0.43300	D	0.995293	P	0.51791	0.948	P	0.50490	0.642	T	0.61138	-0.7123	9	0.46703	T	0.11	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	1960	Q5T011-5	.	K	1118	.	ENSP00000361519:E1118K	E	+	1	0	SZT2	43675443	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.688000	0.98670	2.775000	0.95449	0.655000	0.94253	GAG	SZT2	-	NULL	ENSG00000198198		0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	-	0	42	0	G	NM_015284		43902856	1	tier1	-	no_errors	ENST00000562955	ensembl	human	known	74_37	missense	16.81	94	19	SNP	1.000	A	A	43902856	G	A	43902856	3	1	118	1	0	0	0	0	1	0	0	0	8205	1291	45	3	3454	3	KIAA0467	1	43902856	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	98643	43902856	205347765	3	31199											
FOXD2	2306	genome.wustl.edu	37	chr1	47904390	47904390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccccgcgagccgggcaacCcgggcaagggcaactactgg	8	3	14	16	4	0	0	0	0	0	0	1	1	1	0	4	4	4	3	4	4	4	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:47904390C>T	ENST00000334793.5	+	1	2702	c.583C>T	c.(583-585)Ccg>Tcg	p.P195S		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	195					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)		GCCGGGCAACCCGGGCAAGGG	0.652																																																	0													62	75	71					1																	47904390		2203	4300	6503	SO:0001583	missense	0			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.583C>T	1.37:g.47904390C>T	ENSP00000335493:p.Pro195Ser		Q5SVZ3	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P195S	ENST00000334793.5	37	c.583	CCDS30708.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526340	0.85600	.	.	ENSG00000186564	ENST00000334793	D	0.95482	-3.72	4.2	4.2	0.49525	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.97380	0.9143	M	0.77820	2.39	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	D	0.98139	1.0435	10	0.72032	D	0.01	.	15.3129	0.74048	0.0:1.0:0.0:0.0	.	195	O60548	FOXD2_HUMAN	S	195	ENSP00000335493:P195S	ENSP00000335493:P195S	P	+	1	0	FOXD2	47676977	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.230000	0.78097	1.866000	0.54105	0.436000	0.28706	CCG	FOXD2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000186564		0.652	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD2	HGNC	protein_coding	OTTHUMT00000021831.1	-	0	138	0	C	NM_004474		47904390	1	tier1	-	no_errors	ENST00000334793	ensembl	human	known	74_37	missense	22.67	116	34	SNP	1.000	T	T	47904390	C	T	47904390	3	4	118	1	0	0	0	0	1	0	0	0	6019	623	22	3	585	3	FOXD2	1	47904390	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	4001534	47904390	201346231	4	31200											
BEND5	79656	genome.wustl.edu	37	chr1	49227056	49227056	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccataatctttaacctCtccatcttcttctacatgat	9	17	1	14	0	5	1	0	1	5	0	7	1	6	1	4	0	2	0	4	0	3	7			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:49227056C>A	ENST00000371833.3	-	2	399	c.313G>T	c.(313-315)Gag>Tag	p.E105*	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'Flank	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	105						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						TCTTTAACCTCTCCATCTTCT	0.353																																																	0													244	200	213					1																	49227056		692	1591	2283	SO:0001587	stop_gained	0			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.313G>T	1.37:g.49227056C>A	ENSP00000360899:p.Glu105*		D3DQ27|Q96A62|Q9HAI3	Nonsense_Mutation	SNP	pfam_BEN_domain	p.E105*	ENST00000371833.3	37	c.313	CCDS552.2	1	.	.	.	.	.	.	.	.	.	.	C	32	5.172019	0.94807	.	.	ENSG00000162373	ENST00000371833	.	.	.	5.61	5.61	0.85477	.	0.108794	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2836	19.0051	0.92848	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	.	E	-	1	0	BEND5	48999643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.205000	0.65186	2.814000	0.96858	0.591000	0.81541	GAG	BEND5	-	NULL	ENSG00000162373		0.353	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND5	HGNC	protein_coding	OTTHUMT00000022323.1	-	0	87	0	C	NM_024603		49227056	-1	tier1	-	no_errors	ENST00000371833	ensembl	human	known	74_37	nonsense	22.55	79	23	SNP	1.000	A	A	49227056	C	A	49227056	4	1	118	1	0	0	0	0	0	1	0	0	1402	922	32	3	972	3	BEND5	1	49227056	Nonsense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	1322666	49227056	200023565	5	31201											
C8A	731	genome.wustl.edu	37	chr1	57378148	57378148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcgccagaacctgcgcCgcgccttggaccagtatctg	8	6	11	16	4	1	1	0	0	1	1	1	2	1	2	6	1	3	1	6	1	3	2	rs370599466|rs386631447		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:57378148C>A	ENST00000361249.3	+	10	1549	c.1453C>A	c.(1453-1455)Cgc>Agc	p.R485S		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	485	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		R -> L (in dbSNP:rs1620075).		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAACCTGCGCCGCGCCTTGGA	0.622																																																	0													67	70	69					1																	57378148		2203	4300	6503	SO:0001583	missense	0			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1453C>A	1.37:g.57378148C>A	ENSP00000354458:p.Arg485Ser		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.R485S	ENST00000361249.3	37	c.1453	CCDS606.1	1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893234	0.33442	.	.	ENSG00000157131	ENST00000361249	D	0.84944	-1.92	5.73	-1.62	0.08372	Membrane attack complex component/perforin (MACPF) domain (3);	0.258044	0.41001	D	0.000972	D	0.86239	0.5885	M	0.83483	2.645	0.09310	N	1	B	0.33748	0.423	B	0.40228	0.323	T	0.80968	-0.1145	10	0.54805	T	0.06	-1.8617	14.1942	0.65659	0.6495:0.2585:0.092:0.0	.	485	P07357	CO8A_HUMAN	S	485	ENSP00000354458:R485S	ENSP00000354458:R485S	R	+	1	0	C8A	57150736	0.000000	0.05858	0.006000	0.13384	0.589000	0.36550	-0.057000	0.11768	-0.212000	0.10109	0.655000	0.94253	CGC	C8A	-	pfam_MACPF,smart_MACPF,prints_MAC_perforin	ENSG00000157131		0.622	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8A	HGNC	protein_coding	OTTHUMT00000022890.1	-	0	40	0	C	NM_000562		57378148	1	tier1	-	no_errors	ENST00000361249	ensembl	human	known	74_37	missense	24.24	50	16	SNP	0.000	A	A	57378148	C	A	57378148	3	1	118	1	0	0	0	0	1	0	0	0	2423	652	23	2	1491	2	C8A	1	57378148	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	8151092	57378148	191872473	6	31202											
OMA1	115209	genome.wustl.edu	37	chr1	59004831	59004831	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctgatacttatttactaTatggttaacttgtacttgat	10	19	5	7	0	0	2	0	2	0	0	1	2	1	2	1	1	4	2	1	1	7	10			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:59004831T>C	ENST00000371226.3	-	2	249	c.136A>G	c.(136-138)Ata>Gta	p.I46V	OMA1_ENST00000467063.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.I46V|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	46					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTATTTACTATATGGTTAACT	0.368																																																	0													106	109	108					1																	59004831		2203	4300	6503	SO:0001583	missense	0			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"overlapping activity with M-AAA protease", "zinc metallopeptidase OMA1"		"OMA1 zinc metallopeptidase homolog (S. cerevisiae)"			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.136A>G	1.37:g.59004831T>C	ENSP00000360270:p.Ile46Val		D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	pfam_Peptidase_M48	p.I46V	ENST00000371226.3	37	c.136	CCDS608.1	1	.	.	.	.	.	.	.	.	.	.	T	1.386	-0.582059	0.03827	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	T;T;T;T;T;T	0.26223	2.7;2.74;2.16;2.17;2.17;1.75	5.32	-6.65	0.01795	.	1.609900	0.02799	N	0.122928	T	0.16685	0.0401	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.15435	-1.0437	9	.	.	.	2.8949	5.438	0.16492	0.1158:0.5011:0.2346:0.1486	.	46;46	Q96E52;Q96E52-2	OMA1_HUMAN;.	V	46	ENSP00000351417:I46V;ENSP00000360270:I46V;ENSP00000395053:I46V;ENSP00000409589:I46V;ENSP00000416495:I46V;ENSP00000392978:I46V	.	I	-	1	0	OMA1	58777419	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.185000	0.03073	-1.122000	0.02945	-0.313000	0.08912	ATA	OMA1	-	NULL	ENSG00000162600		0.368	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMA1	HGNC	protein_coding	OTTHUMT00000027819.1	-	0	41	0	T	NM_145243		59004831	-1	tier1	-	no_errors	ENST00000371226	ensembl	human	known	74_37	missense	20.55	289	75	SNP	0.000	C	C	59004831	T	C	59004831	3	2	118	1	0	0	0	0	1	0	0	0	10903	1406	49	4	1470	4	OMA1	1	59004831	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	1626683	59004831	190245790	7	31203											
INADL	10207	genome.wustl.edu	37	chr1	62253574	62253574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatccagctggtgacatttCagtcaccccccctgcccctg	7	9	8	17	0	2	2	2	1	0	1	3	2	3	2	6	1	2	1	6	1	0	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:62253574C>T	ENST00000371158.2	+	8	1112	c.998C>T	c.(997-999)tCa>tTa	p.S333L	INADL_ENST00000316485.6_Missense_Mutation_p.S333L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	333					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						GGTGACATTTCAGTCACCCCC	0.507																																																	0													96	84	88					1																	62253574		2203	4300	6503	SO:0001583	missense	0			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.998C>T	1.37:g.62253574C>T	ENSP00000360200:p.Ser333Leu		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.S333L	ENST00000371158.2	37	c.998	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342915	0.24339	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.14893	2.64;2.47	5.07	0.0643	0.14352	PDZ/DHR/GLGF (1);	0.628220	0.14442	N	0.319353	T	0.10294	0.0252	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.102;0.022;0.011	B;B;B	0.20384	0.029;0.006;0.012	T	0.25745	-1.0123	10	0.39692	T	0.17	.	10.2542	0.43388	0.0:0.5951:0.0:0.4049	.	333;333;333	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	L	333	ENSP00000360200:S333L;ENSP00000326199:S333L	ENSP00000255202:S333L	S	+	2	0	INADL	62026162	0.000000	0.05858	0.022000	0.16811	0.231000	0.25187	1.035000	0.30216	-0.134000	0.11516	-0.373000	0.07131	TCA	INADL	-	superfamily_PDZ	ENSG00000132849		0.507	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	-	0	46	0	C	NM_170605		62253574	1	tier1	-	no_errors	ENST00000371158	ensembl	human	known	74_37	missense	9.38	174	18	SNP	0.000	T	T	62253574	C	T	62253574	3	4	118	1	0	0	0	0	1	0	0	0	7758	838	29	3	1024	3	INADL	1	62253574	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	3248743	62253574	186997047	8	31204											
RPE65	6121	genome.wustl.edu	37	chr1	68895504	68895504	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtgacagggatgttaatCtccacttcagcccgggcaac	11	8	11	11	1	2	1	1	1	1	0	3	2	2	2	2	3	2	2	2	3	3	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:68895504C>G	ENST00000262340.5	-	14	1610	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	519					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						GGATGTTAATCTCCACTTCAG	0.453																																																	0													90	84	86					1																	68895504		2203	4300	6503	SO:0001583	missense	0			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.1557G>C	1.37:g.68895504C>G	ENSP00000262340:p.Glu519Asp		A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.E519D	ENST00000262340.5	37	c.1557	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	C	4.880	0.163615	0.09287	.	.	ENSG00000116745	ENST00000262340	D	0.94758	-3.51	5.52	2.2	0.27929	.	0.209113	0.49916	N	0.000127	T	0.75309	0.3832	N	0.05351	-0.065	0.44447	D	0.997372	B	0.02656	0.0	B	0.01281	0.0	T	0.68337	-0.5435	10	0.30854	T	0.27	-4.9393	6.8299	0.23905	0.0:0.54:0.2249:0.2351	.	519	Q16518	RPE65_HUMAN	D	519	ENSP00000262340:E519D	ENSP00000262340:E519D	E	-	3	2	RPE65	68668092	0.988000	0.35896	1.000000	0.80357	0.996000	0.88848	0.254000	0.18314	0.710000	0.31997	-0.136000	0.14681	GAG	RPE65	-	pfam_Carotenoid_Oase	ENSG00000116745		0.453	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	-	0	13	0	C	NM_000329		68895504	-1	tier1	-	no_errors	ENST00000262340	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.998	G	G	68895504	C	G	68895504	3	3	118	1	0	0	0	0	1	0	0	0	13590	912	32	5	48	5	RPE65	1	68895504	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	6641930	68895504	180355117	9	31205											
FCRL1	115350	genome.wustl.edu	37	chr1	157772422	157772422	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctgtcctcctgggggctGagtctccaagctcacatcag	7	9	10	15	0	3	1	2	1	1	0	6	1	5	1	4	2	1	2	4	2	1	0	rs144206423	byFrequency	TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:157772422G>C	ENST00000368176.3	-	4	419	c.352C>G	c.(352-354)Cag>Gag	p.Q118E	FCRL1_ENST00000358292.3_Missense_Mutation_p.Q118E|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.Q118E	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	118	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGGGGGCTGAGTCTCCAAG	0.537																																					GBM(54;482 1003 11223 30131 35730)												0													44	42	43					1																	157772422		2203	4300	6503	SO:0001583	missense	0			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.352C>G	1.37:g.157772422G>C	ENSP00000357158:p.Gln118Glu		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q118E	ENST00000368176.3	37	c.352	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951166	0.34471	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.11712	2.75;2.75;2.75	5.41	2.39	0.29439	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.219200	0.05679	N	0.590018	T	0.03608	0.0103	L	0.39147	1.195	0.09310	N	1	P;P;P	0.46952	0.868;0.887;0.826	P;P;B	0.48982	0.467;0.597;0.371	T	0.22800	-1.0206	10	0.02654	T	1	.	6.8227	0.23866	0.0831:0.0:0.6088:0.3081	.	118;118;118	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	E	118	ENSP00000351039:Q118E;ENSP00000357158:Q118E;ENSP00000418130:Q118E	ENSP00000351039:Q118E	Q	-	1	0	FCRL1	156039046	0.003000	0.15002	0.002000	0.10522	0.433000	0.31745	0.804000	0.27098	0.298000	0.22638	0.655000	0.94253	CAG	FCRL1	-	pfam_Ig_I-set,pfscan_Ig-like_dom	ENSG00000163534		0.537	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	-	0	33	0	G	NM_052938		157772422	-1	tier1	-	no_errors	ENST00000368176	ensembl	human	known	74_37	missense	44.19	24	19	SNP	0.016	C	C	157772422	G	C	157772422	3	2	118	1	0	0	0	0	1	0	0	0	5816	1299	45	5	1035	5	FCRL1	1	157772422	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	88876918	157772422	91478199	10	31206											
OR6N2	81442	genome.wustl.edu	37	chr1	158746611	158746611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtaaactatagcaagtgttCggtcaagggtcagggaatag	14	9	13	5	1	2	0	2	0	0	0	3	1	2	1	0	3	2	3	0	3	8	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:158746611C>T	ENST00000339258.1	-	1	814	c.815G>A	c.(814-816)cGa>cAa	p.R272Q		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	272						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)					AGCAAGTGTTCGGTCAAGGGT	0.433																																																	0													132	124	126					1																	158746611		2203	4300	6503	SO:0001583	missense	0			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.815G>A	1.37:g.158746611C>T	ENSP00000344101:p.Arg272Gln		Q6IFR2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R272Q	ENST00000339258.1	37	c.815	CCDS30906.1	1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526299	0.27299	.	.	ENSG00000188340	ENST00000339258	T	0.00084	8.75	4.74	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32204	N	0.006423	T	0.00039	0.0001	N	0.25647	0.755	0.26308	N	0.977873	B	0.24533	0.105	B	0.19391	0.025	T	0.20140	-1.0284	10	0.62326	D	0.03	-2.3327	7.396	0.26936	0.0:0.8058:0.0:0.1942	.	272	Q8NGY6	OR6N2_HUMAN	Q	272	ENSP00000344101:R272Q	ENSP00000344101:R272Q	R	-	2	0	OR6N2	157013235	0.000000	0.05858	0.927000	0.36925	0.817000	0.46193	-0.158000	0.10070	1.201000	0.43203	0.650000	0.86243	CGA	OR6N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188340		0.433	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N2	HGNC	protein_coding	OTTHUMT00000059068.1	-	0	92	0	C			158746611	-1	tier1	-	no_errors	ENST00000339258	ensembl	human	known	74_37	missense	27.27	56	21	SNP	0.761	T	T	158746611	C	T	158746611	3	4	118	1	0	0	0	0	1	0	0	0	11246	884	31	1	141	1	OR6N2	1	158746611	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	974189	158746611	90504010	11	31207											
FCRL6	343413	genome.wustl.edu	37	chr1	159772228	159772228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aggccccatgctgctctggaCggctgtgctgctctttggta	4	12	13	12	1	2	0	0	0	2	0	2	1	2	1	2	4	4	6	2	4	1	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:159772228C>T	ENST00000368106.3	+	1	15	c.14C>T	c.(13-15)aCg>aTg	p.T5M	FCRL6_ENST00000321935.6_Missense_Mutation_p.T12M|FCRL6_ENST00000392235.3_Missense_Mutation_p.T5M|FCRL6_ENST00000339348.5_Missense_Mutation_p.T5M	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	5						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)					CTGCTCTGGACGGCTGTGCTG	0.582																																																	0													79	57	64					1																	159772228		2203	4300	6503	SO:0001583	missense	0			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.14C>T	1.37:g.159772228C>T	ENSP00000357086:p.Thr5Met		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T5M	ENST00000368106.3	37	c.14	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.559002	0.00910	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T	0.01272	5.2;5.07;5.63;5.16	4.08	-5.87	0.02297	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.15473	0.013;0.011;0.006;0.003	B;B;B;B	0.11329	0.006;0.002;0.001;0.001	T	0.42241	-0.9463	9	0.36615	T	0.2	.	8.6955	0.34293	0.0:0.1414:0.1363:0.7223	.	5;5;5;12	Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;FCRL6_HUMAN;.	M	12;5;5;5	ENSP00000320625:T12M;ENSP00000340949:T5M;ENSP00000376068:T5M;ENSP00000357086:T5M	ENSP00000320625:T12M	T	+	2	0	FCRL6	158038852	0.000000	0.05858	0.005000	0.12908	0.062000	0.15995	-4.314000	0.00254	-1.134000	0.02899	-0.736000	0.03550	ACG	FCRL6	-	NULL	ENSG00000181036		0.582	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	-	0	90	0	C	NM_001004310		159772228	1	tier1	-	no_errors	ENST00000368106	ensembl	human	known	74_37	missense	36.67	57	33	SNP	0.002	T	T	159772228	C	T	159772228	3	4	118	1	0	0	0	0	1	0	0	0	5821	536	19	1	16	1	FCRL6	1	159772228	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	1025617	159772228	89478393	12	31208											
ATP1A2	477	genome.wustl.edu	37	chr1	160093831	160093831	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatcatggattccttcaaGaacatggtacctcaggtaag	14	10	9	8	0	3	2	3	0	0	2	4	3	4	3	2	3	2	2	2	3	5	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:160093831G>A	ENST00000361216.3	+	5	569	c.480G>A	c.(478-480)aaG>aaA	p.K160K	ATP1A2_ENST00000392233.3_Silent_p.K160K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	160					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATTCCTTCAAGAACATGGTAC	0.527																																																	0													96	86	89					1																	160093831		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.480G>A	1.37:g.160093831G>A			D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.K160	ENST00000361216.3	37	c.480	CCDS1196.1	1																																																																																			ATP1A2	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000018625		0.527	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	-	0	100	0	G	NM_000702		160093831	1	tier1	-	no_errors	ENST00000361216	ensembl	human	known	74_37	silent	45.54	61	51	SNP	1.000	A	A	160093831	G	A	160093831	2	1	118	1	0	0	0	0	0	0	0	1	1130	933	33	3		3	ATP1A2	1	160093831	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	321603	160093831	89156790	13	31209											
USP21	27005	genome.wustl.edu	37	chr1	161133747	161133747	+	Missense_Mutation	SNP	T	T	G	0	1	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	acgaccttcgaggttttttgTgacctgtccctgcccatccc	5	13	8	15	2	0	1	0	1	0	0	3	3	2	1	5	1	1	1	5	1	0	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:161133747T>G	ENST00000289865.8	+	8	1415	c.1194T>G	c.(1192-1194)tgT>tgG	p.C398W	USP21_ENST00000493054.1_Intron|USP21_ENST00000368002.3_Missense_Mutation_p.C398W|PPOX_ENST00000432542.2_5'Flank|PPOX_ENST00000367999.4_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368001.1_Missense_Mutation_p.C398W|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000352210.5_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	398	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)			AGGTTTTTTGTGACCTGTCCC	0.582																																																	0													111	102	105					1																	161133747		2203	4300	6503	SO:0001583	missense	0			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.1194T>G	1.37:g.161133747T>G	ENSP00000289865:p.Cys398Trp		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.C398W	ENST00000289865.8	37	c.1194	CCDS30920.1	1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.906249	0.00512	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.02682	4.2;4.2;4.2	4.91	3.76	0.43208	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.054508	0.85682	D	0.000000	T	0.00356	0.0011	N	0.03304	-0.355	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.43605	-0.9381	10	0.02654	T	1	.	3.8443	0.08928	0.0:0.169:0.1931:0.6379	.	398	Q9UK80	UBP21_HUMAN	W	398	ENSP00000356981:C398W;ENSP00000289865:C398W;ENSP00000356980:C398W	ENSP00000289865:C398W	C	+	3	2	USP21	159400371	0.997000	0.39634	1.000000	0.80357	0.340000	0.28889	0.220000	0.17660	0.863000	0.35553	-0.466000	0.05196	TGT	USP21	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000143258		0.582	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	-	0	76	0	T			161133747	1	tier1	-	no_errors	ENST00000289865	ensembl	human	known	74_37	missense	43.02	49	37	SNP	1.000	G	G	161133747	T	G	161133747	3	3	118	1	0	0	0	0	1	0	0	0	17102	1702	59	4	1220	4	USP21	1	161133747	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	1039916	161133747	88116874	14	31210											
SOAT1	6646	genome.wustl.edu	37	chr1	179304721	179304721	+	Silent	SNP	A	A	G	1	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	ctcattgaaaagtcagcatcAttagataatggtgggtgcgc	12	11	11	7	1	3	2	3	1	0	1	3	2	3	2	0	2	2	1	0	2	4	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:179304721A>G	ENST00000367619.3	+	4	401	c.258A>G	c.(256-258)tcA>tcG	p.S86S	SOAT1_ENST00000540564.1_Silent_p.S28S|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Silent_p.S21S	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	86					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AGTCAGCATCATTAGATAATG	0.353																																																	0													107	105	106					1																	179304721		2203	4300	6503	SO:0001819	synonymous_variant	0			L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.258A>G	1.37:g.179304721A>G			A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	pfam_MBOAT_fam	p.S86	ENST00000367619.3	37	c.258	CCDS1330.1	1																																																																																			SOAT1	-	NULL	ENSG00000057252		0.353	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT1	HGNC	protein_coding	OTTHUMT00000085286.2	-	0	40	0	A	NM_003101		179304721	1	tier1	-	no_errors	ENST00000367619	ensembl	human	known	74_37	silent	42.86	20	15	SNP	0.048	G	G	179304721	A	G	179304721	2	3	118	1	0	0	0	0	0	0	0	1	14955	204	8	4		4	SOAT1	1	179304721	Silent	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	18170974	179304721	69945900	15	31211											
TGFB2	7042	genome.wustl.edu	37	chr1	218607722	218607722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcttacactgtccctgctGcacttttgtaccatctaata	10	14	5	12	0	1	0	0	0	1	0	2	0	2	0	2	0	5	4	2	0	5	6			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:218607722G>T	ENST00000366930.4	+	4	1153	c.686G>T	c.(685-687)tGc>tTc	p.C229F	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Missense_Mutation_p.C257F	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	229					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)		TGTCCCTGCTGCACTTTTGTA	0.388																																																	0													72	69	70					1																	218607722		2203	4300	6503	SO:0001583	missense	0			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.686G>T	1.37:g.218607722G>T	ENSP00000355897:p.Cys229Phe		B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta	p.C257F	ENST00000366930.4	37	c.770	CCDS1521.1	1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.721144	0.30503	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.74315	-0.76;-0.83	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	L	0.46741	1.465	0.80722	D	1	B;B	0.19935	0.04;0.014	B;B	0.25405	0.06;0.056	T	0.65442	-0.6167	10	0.39692	T	0.17	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	257;229	P61812-2;P61812	.;TGFB2_HUMAN	F	229;257	ENSP00000355897:C229F;ENSP00000355896:C257F	ENSP00000355896:C257F	C	+	2	0	TGFB2	216674345	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	6.350000	0.73017	2.806000	0.96561	0.655000	0.94253	TGC	TGFB2	-	pirsf_TGF-beta	ENSG00000092969		0.388	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB2	HGNC	protein_coding	OTTHUMT00000095359.2	-	0	54	0	G	NM_003238		218607722	1	tier1	-	no_errors	ENST00000366929	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	218607722	G	T	218607722	3	4	118	1	0	0	0	0	1	0	0	0	15865	1319	46	3	788	3	TGFB2	1	218607722	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	39303001	218607722	30642899	16	31212											
EPRS	2058	genome.wustl.edu	37	chr1	220154793	220154793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccattttgcatatgcaggaTacattactgaaagacacggg	13	10	9	9	1	0	2	0	1	0	1	0	3	0	3	1	2	4	2	1	2	4	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:220154793T>C	ENST00000366923.3	-	24	3649	c.3380A>G	c.(3379-3381)tAt>tGt	p.Y1127C		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1127	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)	ATATGCAGGATACATTACTGA	0.408																																																	0													136	120	125					1																	220154793		2203	4300	6503	SO:0001583	missense	0			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.3380A>G	1.37:g.220154793T>C	ENSP00000355890:p.Tyr1127Cys		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk	p.Y1127C	ENST00000366923.3	37	c.3380	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377701	0.82682	.	.	ENSG00000136628	ENST00000366923	T	0.66638	-0.22	5.98	5.98	0.97165	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	D	0.82958	0.5150	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85257	0.1048	10	0.87932	D	0	-22.5634	16.4696	0.84102	0.0:0.0:0.0:1.0	.	1127	P07814	SYEP_HUMAN	C	1127	ENSP00000355890:Y1127C	ENSP00000355890:Y1127C	Y	-	2	0	EPRS	218221416	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.807000	0.86032	2.289000	0.77006	0.482000	0.46254	TAT	EPRS	-	pfam_aa-tRNA-synt_IIb_cons-dom,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Pro-tRNA-ligase_IIa_arc-type	ENSG00000136628		0.408	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	-	0	70	0	T	NM_004446		220154793	-1	tier1	-	no_errors	ENST00000366923	ensembl	human	known	74_37	missense	27.42	45	17	SNP	1.000	C	C	220154793	T	C	220154793	3	2	118	1	0	0	0	0	1	0	0	0	5207	1406	49	4	1194	4	EPRS	1	220154793	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	1547071	220154793	29095828	17	31213											
PARP1	142	genome.wustl.edu	37	chr1	226576388	226576388	+	Missense_Mutation	SNP	T	T	A	0	1	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	tttcaagcttactatccttgTctttttcttttttagatttc	6	24	3	8	0	3	1	1	0	2	1	5	1	4	1	1	0	2	1	1	0	4	10	rs535937365		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:226576388T>A	ENST00000366794.5	-	5	829	c.686A>T	c.(685-687)gAc>gTc	p.D229V		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	229					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)		ACTATCCTTGTCTTTTTCTTT	0.433								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0													180	180	180					1																	226576388		2203	4299	6502	SO:0001583	missense	0			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.686A>T	1.37:g.226576388T>A	ENSP00000355759:p.Asp229Val		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.D229V	ENST00000366794.5	37	c.686	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.440954	0.63067	.	.	ENSG00000143799	ENST00000432338;ENST00000366794	T	0.09911	2.93	5.33	5.33	0.75918	.	0.135540	0.64402	D	0.000003	T	0.11239	0.0274	L	0.39898	1.24	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.05289	-1.0894	10	0.40728	T	0.16	.	14.4268	0.67220	0.0:0.0:0.0:1.0	.	229	P09874	PARP1_HUMAN	V	229	ENSP00000355759:D229V	ENSP00000355759:D229V	D	-	2	0	PARP1	224643011	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.925000	0.70062	2.157000	0.67596	0.533000	0.62120	GAC	PARP1	-	pirsf_NAD_ADPRT	ENSG00000143799		0.433	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	-	0	28	0	T	NM_001618		226576388	-1	tier1	-	no_errors	ENST00000366794	ensembl	human	known	74_37	missense	40.00	18	12	SNP	1.000	A	A	226576388	T	A	226576388	3	1	118	1	0	0	0	0	1	0	0	0	11493	1667	58	5	2434	5	PARP1	1	226576388	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	6421595	226576388	22674233	18	31214											
URB2	9816	genome.wustl.edu	37	chr1	229771466	229771466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctactaaactcagtggccaAcaacaatatctacaacatcg	16	8	5	12	1	2	0	1	0	1	0	3	0	2	0	1	1	6	1	1	1	9	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:229771466A>G	ENST00000258243.2	+	4	1242	c.1106A>G	c.(1105-1107)aAc>aGc	p.N369S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	369						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						TCAGTGGCCAACAACAATATC	0.502																																																	0													52	52	52					1																	229771466		2203	4300	6503	SO:0001583	missense	0			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.1106A>G	1.37:g.229771466A>G	ENSP00000258243:p.Asn369Ser		Q5VYC9	Missense_Mutation	SNP	pfam_Urb2/Npa2_C	p.N369S	ENST00000258243.2	37	c.1106	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.336941	0.00224	.	.	ENSG00000135763	ENST00000258243	T	0.25414	1.8	5.2	-5.99	0.02213	.	0.792301	0.12525	N	0.461313	T	0.07279	0.0184	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41288	-0.9517	9	.	.	.	-1.1267	10.8584	0.46812	0.2223:0.2347:0.5431:0.0	.	369	Q14146	URB2_HUMAN	S	369	ENSP00000258243:N369S	.	N	+	2	0	URB2	227838089	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	0.083000	0.14871	-0.982000	0.03515	-0.417000	0.06048	AAC	URB2	-	NULL	ENSG00000135763		0.502	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	-	0	38	0	A	NM_014777		229771466	1	tier1	-	no_errors	ENST00000258243	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.000	G	G	229771466	A	G	229771466	3	3	118	1	0	0	0	0	1	0	0	0	17074	43	2	4	1116	4	URB2	1	229771466	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	3195078	229771466	19479155	19	31215											
KIAA1383	54627	genome.wustl.edu	37	chr1	232943711	232943711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagaagtagttggaaatCtttagaaaaaagccagtcac	19	8	8	6	0	2	2	1	0	1	2	2	3	2	3	1	1	2	2	1	1	9	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:232943711C>A	ENST00000418460.1	+	1	3069	c.2942C>A	c.(2941-2943)tCt>tAt	p.S981Y		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	839					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										AGTTGGAAATCTTTAGAAAAA	0.373																																																	0													106	107	107					1																	232943711		1866	4109	5975	SO:0001583	missense	0			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2942C>A	1.37:g.232943711C>A	ENSP00000403208:p.Ser981Tyr		A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	NULL	p.S981Y	ENST00000418460.1	37	c.2942	CCDS44334.1	1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524824	0.27299	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.94	3.02	0.34903	.	0.000000	0.38058	U	0.001823	T	0.39118	0.1066	M	0.71581	2.175	0.09310	N	1	P	0.37122	0.583	B	0.38428	0.273	T	0.40701	-0.9549	9	0.66056	D	0.02	-1.9356	4.4868	0.11794	0.1296:0.615:0.1247:0.1307	.	839	Q9P2G4	K1383_HUMAN	Y	981	.	ENSP00000403208:S981Y	S	+	2	0	KIAA1383	231010334	0.998000	0.40836	0.117000	0.21633	0.198000	0.23893	2.827000	0.48112	0.387000	0.25024	-0.282000	0.10007	TCT	MAP10	-	NULL	ENSG00000212916		0.373	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP10	HGNC	protein_coding	OTTHUMT00000092317.3	-	0	35	0	C	NM_019090		232943711	1	tier1	-	no_errors	ENST00000418460	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.038	A	A	232943711	C	A	232943711	3	1	118	1	0	0	0	0	1	0	0	0	8255	913	32	3	2944	3	KIAA1383	1	232943711	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	3172245	232943711	16306910	20	31216											
OR14C36	127066	genome.wustl.edu	37	chr1	248512820	248512820	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacatcctggtggtgtcagtCttcctcagttcatgctcttc	5	15	8	13	0	5	0	3	0	2	0	8	0	7	0	2	2	1	2	2	2	0	3	rs142764213		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr1:248512820C>T	ENST00000317861.1	+	1	744	c.744C>T	c.(742-744)gtC>gtT	p.V248V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	248						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						TGGTGTCAGTCTTCCTCAGTT	0.512																																																	0								C		0,4406		0,0,2203	203	134	158		744	-1	0.1	1	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR14C36	NM_001001918.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		248/313	248512820	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.744C>T	1.37:g.248512820C>T			Q6IEZ6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V248	ENST00000317861.1	37	c.744	CCDS31112.1	1																																																																																			OR14C36	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177174		0.512	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1	-	0	28	0	C	NM_001001918		248512820	1	tier1	rs142764213	no_errors	ENST00000317861	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.119	T	T	248512820	C	T	248512820	2	4	118	1	0	0	0	0	0	0	0	1	10985	900	32	3		3	OR14C36	1	248512820	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	15569109	248512820	737801	21	31217											
ASXL2	55252	genome.wustl.edu	37	chr2	25972870	25972870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcgatgtaactaaagattCttggctttcacttttgttat	9	18	8	6	1	2	1	1	0	1	1	2	2	2	1	0	2	1	3	0	2	4	8			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:25972870C>G	ENST00000435504.4	-	12	1848	c.1555G>C	c.(1555-1557)Gaa>Caa	p.E519Q	ASXL2_ENST00000404843.1_Missense_Mutation_p.E259Q|ASXL2_ENST00000336112.4_Missense_Mutation_p.E491Q|ASXL2_ENST00000272341.4_Missense_Mutation_p.E259Q			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	519					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)					ACTAAAGATTCTTGGCTTTCA	0.458																																																	0													99	92	94					2																	25972870		1866	4117	5983	SO:0001583	missense	0					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.1555G>C	2.37:g.25972870C>G	ENSP00000391447:p.Glu519Gln		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E519Q	ENST00000435504.4	37	c.1555		2	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487563	0.44249	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.19105	2.17;2.17;2.2;2.2	6.01	6.01	0.97437	.	0.628699	0.16576	N	0.208393	T	0.25344	0.0616	M	0.63428	1.95	0.30055	N	0.811431	B;B	0.30973	0.302;0.011	B;B	0.32289	0.143;0.003	T	0.12066	-1.0562	10	0.19590	T	0.45	-2.5007	15.4837	0.75548	0.0:0.8612:0.1388:0.0	.	259;519	Q76L83-2;Q76L83	.;ASXL2_HUMAN	Q	519;491;259;259	ENSP00000391447:E519Q;ENSP00000337250:E491Q;ENSP00000383920:E259Q;ENSP00000272341:E259Q	ENSP00000272341:E259Q	E	-	1	0	ASXL2	25826374	0.798000	0.28890	0.904000	0.35570	0.914000	0.54420	1.582000	0.36568	2.861000	0.98227	0.650000	0.86243	GAA	ASXL2	-	NULL	ENSG00000143970		0.458	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	-	0	77	0	C	NM_018263		25972870	-1	tier1	-	no_errors	ENST00000435504	ensembl	human	known	74_37	missense	32.05	53	25	SNP	0.848	G	G	25972870	C	G	25972870	3	3	118	1	0	0	0	0	1	0	0	0	1068	922	32	5	2760	5	ASXL2	2	25972870	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09		25972870	217226503	22	31218											
CGREF1	10669	genome.wustl.edu	37	chr2	27324150	27324150	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttcaagatctagatctCatcattctccacttgaacaa	13	14	3	11	0	6	3	3	1	4	2	8	3	6	3	1	0	1	0	1	0	5	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:27324150C>A	ENST00000260595.5	-	7	1190	c.898G>T	c.(898-900)Gag>Tag	p.E300*	CGREF1_ENST00000404694.3_Nonsense_Mutation_p.E439*|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Nonsense_Mutation_p.E317*|CGREF1_ENST00000312734.4_Nonsense_Mutation_p.E317*|CGREF1_ENST00000402394.1_Nonsense_Mutation_p.E317*			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	300					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTAGATCTCATCATTCTCC	0.493																																																	0													142	137	139					2																	27324150		2203	4300	6503	SO:0001587	stop_gained	0			BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.898G>T	2.37:g.27324150C>A	ENSP00000260595:p.Glu300*		A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Nonsense_Mutation	SNP	pfscan_EF_hand_dom	p.E317*	ENST00000260595.5	37	c.949		2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532999	0.45073	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.28624	N	0.908022	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.1409	15.5838	0.76465	0.0:1.0:0.0:0.0	.	.	.	.	X	317;317;300;317;439;300	.	ENSP00000260595:E300X	E	-	1	0	CGREF1	27177654	0.995000	0.38212	0.999000	0.59377	0.201000	0.24016	3.526000	0.53509	2.551000	0.86045	0.561000	0.74099	GAG	CGREF1	-	NULL	ENSG00000138028		0.493	CGREF1-201	KNOWN	basic	protein_coding	CGREF1	HGNC	protein_coding		-	0	58	0	C	NM_006569		27324150	-1	tier1	-	no_errors	ENST00000312734	ensembl	human	known	74_37	nonsense	24.19	47	15	SNP	1.000	A	A	27324150	C	A	27324150	4	1	118	1	0	0	0	0	0	1	0	0	3312	835	29	3	203	3	CGREF1	2	27324150	Nonsense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	1351280	27324150	215875223	23	31219											
FBXO41	150726	genome.wustl.edu	37	chr2	73491122	73491122	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccccgctgccggggcttCaagttctgcagcgtcagaga	6	10	12	13	3	3	1	2	0	1	1	4	2	4	1	3	2	3	4	3	2	1	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:73491122C>G	ENST00000521871.1	-	7	2281	c.1866G>C	c.(1864-1866)ttG>ttC	p.L622F	FBXO41_ENST00000295133.5_Missense_Mutation_p.L683F|FBXO41_ENST00000520530.2_Missense_Mutation_p.L622F			Q8TF61	FBX41_HUMAN	F-box protein 41	622										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCCGGGGCTTCAAGTTCTGCA	0.632																																																	0													21	25	24					2																	73491122		1953	4151	6104	SO:0001583	missense	0			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.1866G>C	2.37:g.73491122C>G	ENSP00000428646:p.Leu622Phe		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	superfamily_F-box_dom	p.L683F	ENST00000521871.1	37	c.2049	CCDS46337.2	2	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896342	0.72639	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	T;T	0.24538	1.85;1.85	5.06	4.17	0.49024	F-box domain, Skp2-like (1);	0.069080	0.64402	D	0.000014	T	0.39091	0.1065	L	0.44542	1.39	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.16689	-1.0394	10	0.62326	D	0.03	-21.6981	8.5179	0.33257	0.1566:0.5677:0.2756:0.0	.	622	Q8TF61	FBX41_HUMAN	F	683;622	ENSP00000295133:L683F;ENSP00000428646:L622F	ENSP00000295133:L683F	L	-	3	2	FBXO41	73344630	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.461000	0.21940	1.318000	0.45170	0.561000	0.74099	TTG	FBXO41	-	superfamily_F-box_dom	ENSG00000163013		0.632	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1	-	0	65	0	C			73491122	-1	tier1	-	no_errors	ENST00000295133	ensembl	human	known	74_37	missense	42.86	44	33	SNP	1.000	G	G	73491122	C	G	73491122	3	3	118	1	0	0	0	0	1	0	0	0	5772	825	29	5	789	5	FBXO41	2	73491122	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	46166972	73491122	169708251	24	31220											
LYG2	254773	genome.wustl.edu	37	chr2	99858936	99858936	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattcctgacttaaaagctGagagaccacctgaaatgaaa	17	8	7	9	0	0	5	0	4	0	1	1	6	1	5	3	0	1	1	3	0	5	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:99858936G>T	ENST00000409238.1	-	5	550	c.530C>A	c.(529-531)tCa>tAa	p.S177*	LYG2_ENST00000423800.1_3'UTR|LYG2_ENST00000333017.2_Nonsense_Mutation_p.S177*			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	177				GLSAFKSG -> RLYSEYFY (in Ref. 4). {ECO:0000305}.	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						CTTAAAAGCTGAGAGACCACC	0.388																																																	0													127	123	124					2																	99858936		2203	4300	6503	SO:0001587	stop_gained	0			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.530C>A	2.37:g.99858936G>T	ENSP00000386939:p.Ser177*		Q496G2|Q53RW0	Nonsense_Mutation	SNP	pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	p.S177*	ENST00000409238.1	37	c.530	CCDS2042.1	2	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575210	0.45902	.	.	ENSG00000185674	ENST00000409238;ENST00000333017	.	.	.	5.03	0.916	0.19373	.	0.744300	0.11862	N	0.522252	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.5428	1.8737	0.03214	0.1813:0.1585:0.497:0.1632	.	.	.	.	X	177	.	.	S	-	2	0	LYG2	99225368	0.494000	0.26043	0.843000	0.33291	0.846000	0.48090	0.549000	0.23329	0.282000	0.22254	0.563000	0.77884	TCA	LYG2	-	pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	ENSG00000185674		0.388	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LYG2	HGNC	protein_coding	OTTHUMT00000330307.1	-	0	45	0	G	NM_175735		99858936	-1	tier1	-	no_errors	ENST00000333017	ensembl	human	known	74_37	nonsense	55.56	16	20	SNP	0.656	T	T	99858936	G	T	99858936	4	4	118	1	0	0	0	0	0	1	0	0	9141	1294	45	3	112	3	LYG2	2	99858936	Nonsense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	26367814	99858936	143340437	25	31221											
EPB41L5	57669	genome.wustl.edu	37	chr2	120925515	120925515	+	Silent	SNP	A	A	G	1	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	cttttgacagggaaggagggAcatggtaataaagatggaat	15	9	14	3	0	0	2	0	1	0	1	0	6	0	6	0	5	0	1	0	5	5	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:120925515A>G	ENST00000263713.5	+	24	2281	c.2067A>G	c.(2065-2067)ggA>ggG	p.G689G	EPB41L5_ENST00000452780.1_Silent_p.G688G|EPB41L5_ENST00000443902.2_Intron|EPB41L5_ENST00000488691.1_3'UTR	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	689					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GGAAGGAGGGACATGGTAATA	0.448																																																	0													159	139	146					2																	120925515		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.2067A>G	2.37:g.120925515A>G			Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.G689	ENST00000263713.5	37	c.2067	CCDS2130.1	2																																																																																			EPB41L5	-	NULL	ENSG00000115109		0.448	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	EPB41L5	HGNC	protein_coding	OTTHUMT00000254230.2	-	0	92	0	A	NM_020909		120925515	1	tier1	-	no_errors	ENST00000263713	ensembl	human	known	74_37	silent	35.35	64	35	SNP	0.002	G	G	120925515	A	G	120925515	2	3	118	1	0	0	0	0	0	0	0	1	5173	262	10	4		4	EPB41L5	2	120925515	Silent	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	21066579	120925515	122273858	26	31222											
WDR33	55339	genome.wustl.edu	37	chr2	128471464	128471464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtgagggccacgcctatCagggggacccctgcagtcct	6	7	15	13	1	1	1	1	1	0	0	2	2	2	2	5	4	1	1	5	4	1	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:128471464C>T	ENST00000322313.4	-	18	3159	c.3001G>A	c.(3001-3003)Gat>Aat	p.D1001N		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1001					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)		CCACGCCTATCAGGGGGACCC	0.652																																																	0													98	107	104					2																	128471464		2203	4300	6503	SO:0001583	missense	0				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.3001G>A	2.37:g.128471464C>T	ENSP00000325377:p.Asp1001Asn		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1001N	ENST00000322313.4	37	c.3001	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.240071	0.95240	.	.	ENSG00000136709	ENST00000322313	D	0.89875	-2.58	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000002	T	0.82190	0.4983	N	0.14661	0.345	0.80722	D	1	P	0.40970	0.734	B	0.37015	0.239	D	0.84087	0.0388	10	0.56958	D	0.05	-1.7224	20.0726	0.97729	0.0:1.0:0.0:0.0	.	1001	Q9C0J8	WDR33_HUMAN	N	1001	ENSP00000325377:D1001N	ENSP00000325377:D1001N	D	-	1	0	WDR33	128187934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.121000	0.64691	2.738000	0.93877	0.655000	0.94253	GAT	WDR33	-	NULL	ENSG00000136709		0.652	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	-	0	97	0	C	NM_018383		128471464	-1	tier1	-	no_errors	ENST00000322313	ensembl	human	known	74_37	missense	38.82	52	33	SNP	1.000	T	T	128471464	C	T	128471464	3	4	118	1	0	0	0	0	1	0	0	0	17336	826	29	3	1029	3	WDR33	2	128471464	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	7545949	128471464	114727909	27	31223											
MGAT5	4249	genome.wustl.edu	37	chr2	135028024	135028024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggcaagttggagtcgaaGgtggacaatcttgttgtcaa	11	12	13	5	1	2	0	1	0	1	0	3	3	2	2	0	4	0	3	0	4	4	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:135028024G>T	ENST00000409645.1	+	3	561	c.309G>T	c.(307-309)aaG>aaT	p.K103N	MGAT5_ENST00000281923.2_Missense_Mutation_p.K103N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	103					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGGAGTCGAAGGTGGACAATC	0.413																																																	0													130	117	121					2																	135028024		2203	4300	6503	SO:0001583	missense	0			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.309G>T	2.37:g.135028024G>T	ENSP00000386377:p.Lys103Asn		D3DP70	Missense_Mutation	SNP	NULL	p.K103N	ENST00000409645.1	37	c.309	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886571	0.51908	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.8	4.01	0.46588	.	0.087790	0.85682	D	0.000000	T	0.71151	0.3306	M	0.66939	2.045	0.54753	D	0.999983	D	0.76494	0.999	D	0.80764	0.994	T	0.71069	-0.4699	9	0.54805	T	0.06	-11.6812	10.6663	0.45732	0.2561:0.0:0.7439:0.0	.	103	Q09328	MGT5A_HUMAN	N	103	.	ENSP00000281923:K103N	K	+	3	2	MGAT5	134744494	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.903000	0.56318	0.808000	0.34231	0.650000	0.86243	AAG	MGAT5	-	NULL	ENSG00000152127		0.413	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	HGNC	protein_coding	OTTHUMT00000254584.3	-	0	69	0	G	NM_002410		135028024	1	tier1	-	no_errors	ENST00000281923	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	135028024	G	T	135028024	3	4	118	1	0	0	0	0	1	0	0	0	9586	991	35	3	315	3	MGAT5	2	135028024	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	6556560	135028024	108171349	28	31224											
SPOPL	339745	genome.wustl.edu	37	chr2	139308489	139308489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaggtgcctgagggtaaacCcaaagggattagatgatgaa	14	9	13	5	0	0	4	0	3	0	1	0	5	0	5	2	3	2	1	2	3	6	3	rs141678968		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:139308489C>A	ENST00000280098.4	+	4	596	c.217C>A	c.(217-219)Cca>Aca	p.P73T		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	73	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				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)		p.P73S(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GAGGGTAAACCCAAAGGGATT	0.378																																																	1	Substitution - Missense(1)	skin(1)											81	86	84					2																	139308489		2203	4299	6502	SO:0001583	missense	0				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.217C>A	2.37:g.139308489C>A	ENSP00000280098:p.Pro73Thr			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.P73T	ENST00000280098.4	37	c.217	CCDS33298.1	2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637274	0.87760	.	.	ENSG00000144228	ENST00000280098	D	0.83419	-1.72	5.78	5.78	0.91487	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.92996	0.7771	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93567	0.6900	10	0.87932	D	0	-1.8083	20.0044	0.97430	0.0:1.0:0.0:0.0	.	73	Q6IQ16	SPOPL_HUMAN	T	73	ENSP00000280098:P73T	ENSP00000280098:P73T	P	+	1	0	SPOPL	139024959	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.714000	0.92807	0.650000	0.86243	CCA	SPOPL	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH	ENSG00000144228		0.378	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1		0	39	0	C			139308489	1			no_errors	ENST00000280098	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	139308489	C	A	139308489	3	1	118	1	0	0	0	0	1	0	0	0	15132	623	22	3	227	3	SPOPL	2	139308489	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	4280465	139308489	103890884	29	31225											
LRP1B	53353	genome.wustl.edu	37	chr2	141128844	141128844	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatattcacgtgatgagcaAgtaggagaagctgaatacaa	17	9	10	5	1	1	4	1	3	0	1	1	5	1	4	0	1	3	3	0	1	8	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:141128844A>G	ENST00000389484.3	-	70	11750	c.10779T>C	c.(10777-10779)acT>acC	p.T3593T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3593	LDL-receptor class A 28. {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)		GTGATGAGCAAGTAGGAGAAG	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													33	33	33					2																	141128844		2200	4291	6491	SO:0001819	synonymous_variant	0			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.10779T>C	2.37:g.141128844A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T3593	ENST00000389484.3	37	c.10779	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	30	0	A	NM_018557		141128844	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	36.36	21	12	SNP	0.985	G	G	141128844	A	G	141128844	2	3	118	1	0	0	0	0	0	0	0	1	8990	59	3	4		4	LRP1B	2	141128844	Silent	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	1820355	141128844	102070529	30	31226											
FIGN	55137	genome.wustl.edu	37	chr2	164466828	164466828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcgtctgacctcaacactGgccataaaacctcctcttta	11	10	5	15	2	3	1	1	1	2	0	4	1	4	1	4	1	2	0	4	1	4	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:164466828G>T	ENST00000333129.3	-	3	1828	c.1514C>A	c.(1513-1515)cCa>cAa	p.P505Q	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	505					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCTCAACACTGGCCATAAAAC	0.507																																																	0													117	109	112					2																	164466828		2011	4189	6200	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1514C>A	2.37:g.164466828G>T	ENSP00000333836:p.Pro505Gln		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P505Q	ENST00000333129.3	37	c.1514	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301577	0.60195	.	.	ENSG00000182263	ENST00000333129	D	0.95238	-3.65	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98356	0.9454	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99146	1.0857	10	0.87932	D	0	-25.6294	19.7468	0.96255	0.0:0.0:1.0:0.0	.	505	Q5HY92	FIGN_HUMAN	Q	505	ENSP00000333836:P505Q	ENSP00000333836:P505Q	P	-	2	0	FIGN	164175074	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.678000	0.91216	0.563000	0.77884	CCA	FIGN	-	superfamily_P-loop_NTPase	ENSG00000182263		0.507	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0	64	0	G	NM_018086		164466828	-1	tier1	-	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	38.60	35	22	SNP	1.000	T	T	164466828	G	T	164466828	3	4	118	1	0	0	0	0	1	0	0	0	5913	1348	47	3	769	3	FIGN	2	164466828	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	23337984	164466828	78732545	31	31227											
ITGAV	3685	genome.wustl.edu	37	chr2	187523819	187523819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttactatttttatggaatatCggttggattatagaacagct	12	17	8	4	1	0	1	0	0	0	1	1	3	0	3	0	3	3	2	0	3	8	9	rs200949549		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:187523819C>T	ENST00000261023.3	+	18	2048	c.1774C>T	c.(1774-1776)Cgg>Tgg	p.R592W	ITGAV_ENST00000433736.2_Missense_Mutation_p.R546W|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.R556W	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	592					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TATGGAATATCGGTTGGATTA	0.368													C|||	1	0.000199681	8e-04	0	5008	,	,		16295	0		0	False		,,,				2504	0				Melanoma(58;108 1995 6081)												0													101	100	100					2																	187523819		2203	4300	6503	SO:0001583	missense	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1774C>T	2.37:g.187523819C>T	ENSP00000261023:p.Arg592Trp		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R592W	ENST00000261023.3	37	c.1774	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032038	0.35893	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.46451	0.87;0.87;0.87	6.07	1.1	0.20463	Integrin alpha-2 (1);	0.746850	0.13319	N	0.396837	T	0.30135	0.0755	L	0.29908	0.895	0.26108	N	0.980723	B;B;B	0.13145	0.007;0.003;0.007	B;B;B	0.08055	0.003;0.002;0.003	T	0.20806	-1.0264	10	0.54805	T	0.06	.	10.3236	0.43780	0.0:0.6914:0.0932:0.2155	.	546;556;592	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	W	592;556;546	ENSP00000261023:R592W;ENSP00000364042:R556W;ENSP00000404291:R546W	ENSP00000261023:R592W	R	+	1	2	ITGAV	187232064	0.993000	0.37304	0.961000	0.40146	0.908000	0.53690	1.303000	0.33470	-0.048000	0.13401	-1.761000	0.00669	CGG	ITGAV	-	pfam_Integrin_alpha-2,prints_Integrin_alpha	ENSG00000138448		0.368	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	-	0	42	0	C	NM_002210		187523819	1	tier1	rs200949549	no_errors	ENST00000261023	ensembl	human	known	74_37	missense	71.05	11	27	SNP	0.535	T	T	187523819	C	T	187523819	3	4	118	1	0	0	0	0	1	0	0	0	7915	875	31	1	1895	1	ITGAV	2	187523819	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	23056991	187523819	55675554	32	31228											
AOX1	316	genome.wustl.edu	37	chr2	201457904	201457904	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgatcctgaaacaatgctGttgccttatttgaggaagaa	12	12	10	7	1	0	3	0	2	0	1	2	5	1	4	2	1	3	2	2	1	5	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:201457904G>C	ENST00000374700.2	+	2	322	c.81G>C	c.(79-81)ctG>ctC	p.L27L		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	27	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)	AAACAATGCTGTTGCCTTATT	0.333																																																	0													290	248	262					2																	201457904		2203	4300	6503	SO:0001819	synonymous_variant	0			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.81G>C	2.37:g.201457904G>C			O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.L27	ENST00000374700.2	37	c.81	CCDS33360.1	2																																																																																			AOX1	-	pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.333	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	-	0	101	0	G	NM_001159		201457904	1	tier1	-	no_errors	ENST00000374700	ensembl	human	known	74_37	silent	38.79	71	45	SNP	0.771	C	C	201457904	G	C	201457904	2	2	118	1	0	0	0	0	0	0	0	1	729	1364	48	5		5	AOX1	2	201457904	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	13934085	201457904	41741469	33	31229											
PRKAG3	53632	genome.wustl.edu	37	chr2	219695486	219695486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccttccccctgacctggtGgctccccttcctccaccgac	4	9	6	22	1	0	1	0	1	0	0	4	2	4	1	9	2	0	1	9	2	0	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:219695486G>A	ENST00000529249.1	-	3	527	c.212C>T	c.(211-213)cCa>cTa	p.P71L	PRKAG3_ENST00000439262.2_Missense_Mutation_p.P46L|PRKAG3_ENST00000392098.3_Missense_Mutation_p.P71L|PRKAG3_ENST00000545803.1_5'UTR			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	71			P -> A (in dbSNP:rs692243). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17878938}.		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)	CTGACCTGGTGGCTCCCCTTC	0.612																																																	0													145	120	128					2																	219695486		2203	4300	6503	SO:0001583	missense	0			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.212C>T	2.37:g.219695486G>A	ENSP00000436068:p.Pro71Leu		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	pfam_CBS_dom,smart_CBS_dom	p.P71L	ENST00000529249.1	37	c.212	CCDS2424.1	2	.	.	.	.	.	.	.	.	.	.	G	1.605	-0.525503	0.04141	.	.	ENSG00000115592	ENST00000439262;ENST00000529249;ENST00000392098;ENST00000430489	D;D;T;T	0.83837	-1.64;-1.77;-0.06;0.8	4.78	0.347	0.16022	.	0.360067	0.23775	N	0.044685	T	0.60547	0.2277	N	0.11201	0.11	0.09310	N	1	B;B;B	0.23442	0.085;0.001;0.001	B;B;B	0.24155	0.051;0.003;0.001	T	0.46190	-0.9209	10	0.15952	T	0.53	-0.0387	5.3958	0.16268	0.1757:0.0:0.6657:0.1586	.	71;46;71	B4DUK8;Q9UGI9-2;Q9UGI9	.;.;AAKG3_HUMAN	L	46;71;71;71	ENSP00000397133:P46L;ENSP00000436068:P71L;ENSP00000375947:P71L;ENSP00000416100:P71L	ENSP00000233944:P71L	P	-	2	0	PRKAG3	219403730	0.309000	0.24518	0.006000	0.13384	0.375000	0.29983	0.739000	0.26173	-0.239000	0.09710	0.655000	0.94253	CCA	PRKAG3	-	NULL	ENSG00000115592		0.612	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRKAG3	HGNC	protein_coding	OTTHUMT00000385992.1	-	0	110	0	G			219695486	-1	tier1	-	no_errors	ENST00000233944	ensembl	human	known	74_37	missense	70.53	28	67	SNP	0.001	A	A	219695486	G	A	219695486	3	1	118	1	0	0	0	0	1	0	0	0	12544	1348	47	3	1301	3	PRKAG3	2	219695486	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	18237582	219695486	23503887	34	31230											
ING5	84289	genome.wustl.edu	37	chr2	242662655	242662655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtttcactttgcctgcGtggaccttaccacgaaaccc	8	11	9	13	2	1	0	1	0	0	0	1	2	1	1	4	2	4	1	4	2	2	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr2:242662655G>T	ENST00000313552.6	+	7	675	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	ING5_ENST00000406941.1_Missense_Mutation_p.V217L|AC114730.11_ENST00000435195.1_RNA	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	217					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTTTGCCTGCGTGGACCTTAC	0.517																																																	0													244	242	243					2																	242662655		2203	4300	6503	SO:0001583	missense	0			AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"Zinc fingers, PHD-type"	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.649G>T	2.37:g.242662655G>T	ENSP00000322142:p.Val217Leu		A8K1P3|Q53NU6|Q57Z54|Q9BS30	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V217L	ENST00000313552.6	37	c.649	CCDS33425.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.382950	0.95967	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	D;D	0.84660	-1.88;-1.88	5.66	5.66	0.87406	Zinc finger, PHD-finger (2);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	0.92980	0.7766	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92839	0.6287	10	0.56958	D	0.05	-16.4716	19.7533	0.96277	0.0:0.0:1.0:0.0	.	217	Q8WYH8	ING5_HUMAN	L	217	ENSP00000322142:V217L;ENSP00000385937:V217L	ENSP00000322142:V217L	V	+	1	0	ING5	242311328	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	8.665000	0.91144	2.669000	0.90835	0.643000	0.83706	GTG	ING5	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000168395		0.517	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING5	HGNC	protein_coding	OTTHUMT00000322901.3	-	0	155	0	G	NM_032329		242662655	1	tier1	-	no_errors	ENST00000313552	ensembl	human	known	74_37	missense	77.21	31	105	SNP	1.000	T	T	242662655	G	T	242662655	3	4	118	1	0	0	0	0	1	0	0	0	7766	1145	40	2	675	2	ING5	2	242662655	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	22967169	242662655	536718	35	31231											
CHL1	10752	genome.wustl.edu	37	chr3	401982	401982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagatcatccatttgctgGtgatgttgtcttccccaggg	6	15	10	10	0	3	2	2	1	1	1	5	2	5	2	3	2	1	2	3	2	0	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:401982G>A	ENST00000256509.2	+	12	1823	c.1181G>A	c.(1180-1182)gGt>gAt	p.G394D	CHL1_ENST00000397491.2_Missense_Mutation_p.G378D	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	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)			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)		CCATTTGCTGGTGATGTTGTC	0.368																																																	0													144	139	140					3																	401982		2203	4300	6503	SO:0001583	missense	0			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.1181G>A	3.37:g.401982G>A	ENSP00000256509:p.Gly394Asp		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G394D	ENST00000256509.2	37	c.1181	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863826	0.32884	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.66995	-0.24;-0.24	5.16	3.34	0.38264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.235594	0.44285	D	0.000466	T	0.56077	0.1961	L	0.41906	1.305	0.21256	N	0.999741	B;B;B	0.25486	0.056;0.0;0.127	B;B;B	0.33295	0.161;0.002;0.139	T	0.42498	-0.9448	10	0.18276	T	0.48	.	9.9623	0.41704	0.0:0.1492:0.6959:0.1549	.	378;378;394	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	D	394;378	ENSP00000256509:G394D;ENSP00000380628:G378D	ENSP00000256509:G394D	G	+	2	0	CHL1	376982	0.938000	0.31826	0.155000	0.22561	0.915000	0.54546	2.783000	0.47766	0.651000	0.30788	0.655000	0.94253	GGT	CHL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134121		0.368	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	-	0	58	0	G	NM_006614		401982	1	tier1	-	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.186	A	A	401982	G	A	401982	3	1	118	1	0	0	0	0	1	0	0	0	3356	1261	44	3	1219	3	CHL1	3	401982	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09		401982	197620448	36	31232											
ITPR1	3708	genome.wustl.edu	37	chr3	4687130	4687130	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttcatgaaatggagtgaTaacaaagacgacatattaaa	18	11	7	5	1	1	3	1	2	0	1	1	5	1	4	0	1	1	0	0	1	6	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:4687130T>C	ENST00000443694.2	+	7	684	c.684T>C	c.(682-684)gaT>gaC	p.D228D	ITPR1_ENST00000302640.8_Silent_p.D228D|ITPR1_ENST00000357086.4_Silent_p.D228D|ITPR1_ENST00000544951.1_Silent_p.D228D|ITPR1_ENST00000423119.2_Silent_p.D228D|ITPR1_ENST00000456211.2_Silent_p.D228D|ITPR1_ENST00000354582.6_Silent_p.D228D			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	228					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)	AATGGAGTGATAACAAAGACG	0.403																																																	0													76	75	75					3																	4687130		1947	4130	6077	SO:0001819	synonymous_variant	0			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.684T>C	3.37:g.4687130T>C			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.D228	ENST00000443694.2	37	c.684	CCDS54551.1	3																																																																																			ITPR1	-	pfam_Ins145_P3_rcpt	ENSG00000150995		0.403	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0	72	0	T	NM_002222		4687130	1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	silent	28.12	46	18	SNP	0.270	C	C	4687130	T	C	4687130	2	2	118	1	0	0	0	0	0	0	0	1	7947	1403	49	4		4	ITPR1	3	4687130	Silent	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	4285148	4687130	193335300	37	31233											
C3orf20	84077	genome.wustl.edu	37	chr3	14746055	14746055	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatttcagtcagcattgtCaagaggggaaggcacccaag	13	8	11	9	0	4	1	4	0	0	1	4	2	4	2	1	3	1	2	1	3	3	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:14746055C>G	ENST00000253697.3	+	7	1542	c.1090C>G	c.(1090-1092)Caa>Gaa	p.Q364E	C3orf20_ENST00000412910.1_Missense_Mutation_p.Q242E|C3orf20_ENST00000435614.1_Missense_Mutation_p.Q242E|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	364						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						TCAGCATTGTCAAGAGGGGAA	0.498																																																	0													259	246	250					3																	14746055		2203	4300	6503	SO:0001583	missense	0			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.1090C>G	3.37:g.14746055C>G	ENSP00000253697:p.Gln364Glu		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.Q364E	ENST00000253697.3	37	c.1090	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	C	9.717	1.158554	0.21454	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.11063	2.81;2.81;2.81	4.64	3.73	0.42828	.	0.347184	0.21555	N	0.072680	T	0.09730	0.0239	L	0.32530	0.975	0.09310	N	1	P	0.39847	0.691	B	0.42771	0.397	T	0.21415	-1.0246	10	0.17832	T	0.49	-10.5974	9.6523	0.39906	0.2079:0.7921:0.0:0.0	.	364	Q8ND61	CC020_HUMAN	E	364;242;242	ENSP00000253697:Q364E;ENSP00000402933:Q242E;ENSP00000396081:Q242E	ENSP00000253697:Q364E	Q	+	1	0	C3orf20	14721059	0.740000	0.28207	0.026000	0.17262	0.039000	0.13416	3.036000	0.49767	1.111000	0.41721	0.591000	0.81541	CAA	C3orf20	-	NULL	ENSG00000131379		0.498	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	-	0	107	0	C	NM_032137		14746055	1	tier1	-	no_errors	ENST00000253697	ensembl	human	known	74_37	missense	32.58	60	29	SNP	0.049	G	G	14746055	C	G	14746055	3	3	118	1	0	0	0	0	1	0	0	0	2220	827	29	5	1108	5	C3orf20	3	14746055	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	10058925	14746055	183276375	38	31234											
RHOA	387	genome.wustl.edu	37	chr3	49405948	49405948	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctcaggcgatcataatcttCctgcccagctgtgtcccaca	8	10	7	16	1	3	0	2	0	1	0	5	1	5	0	4	1	2	1	4	1	1	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:49405948C>G	ENST00000418115.1	-	3	574	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	RHOA_ENST00000422781.1_Missense_Mutation_p.E64Q|RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000454011.2_Intron	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	64					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCATAATCTTCCTGCCCAGCT	0.488																																																	0													117	112	114					3																	49405948		2203	4300	6503	SO:0001583	missense	0			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.190G>C	3.37:g.49405948C>G	ENSP00000400175:p.Glu64Gln		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E64Q	ENST00000418115.1	37	c.190	CCDS2795.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.267730	0.95399	.	.	ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425	D;D;D	0.83914	-1.78;-1.78;-1.78	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94082	0.8103	H	0.95151	3.63	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	D	0.95267	0.8374	10	0.87932	D	0	.	18.6067	0.91268	0.0:1.0:0.0:0.0	.	64	P61586	RHOA_HUMAN	Q	64	ENSP00000400175:E64Q;ENSP00000413587:E64Q;ENSP00000408402:E64Q	ENSP00000400175:E64Q	E	-	1	0	RHOA	49380952	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.675000	0.84002	2.749000	0.94314	0.551000	0.68910	GAA	RHOA	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000067560		0.488	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	-	0	44	0	C	NM_001664		49405948	-1	tier1	-	no_errors	ENST00000418115	ensembl	human	known	74_37	missense	50.00	15	15	SNP	1.000	G	G	49405948	C	G	49405948	3	3	118	1	0	0	0	0	1	0	0	0	13376	864	30	5	403	5	RHOA	3	49405948	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	34659893	49405948	148616482	39	31235											
TKT	7086	genome.wustl.edu	37	chr3	53264542	53264542	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttgaagatctccgagaaGgtggaatttttggtgtcccc	8	15	11	7	1	1	3	0	1	1	2	3	5	2	4	3	3	0	0	3	3	3	4	rs113369659		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:53264542G>C	ENST00000462138.1	-	8	1126	c.1038C>G	c.(1036-1038)acC>acG	p.T346T	TKT_ENST00000423525.2_Silent_p.T346T|TKT_ENST00000423516.1_Silent_p.T354T|TKT_ENST00000296289.6_Silent_p.T299T|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	346					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		TCTCCGAGAAGGTGGAATTTT	0.597																																					Colon(133;1506 2347 35238 42177)												0													121	113	115					3																	53264542		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1038C>G	3.37:g.53264542G>C			A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.T346	ENST00000462138.1	37	c.1038	CCDS2871.1	3																																																																																			TKT	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd	ENSG00000163931		0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKT	HGNC	protein_coding	OTTHUMT00000350356.1	-	0	151	0	G			53264542	-1	tier1	-	no_errors	ENST00000423525	ensembl	human	known	74_37	silent	74.83	35	107	SNP	1.000	C	C	53264542	G	C	53264542	2	2	118	1	0	0	0	0	0	0	0	1	15981	987	35	5		5	TKT	3	53264542	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	3858594	53264542	144757888	40	31236											
RG9MTD1	54931	genome.wustl.edu	37	chr3	101284019	101284019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaacacagcaaaaaaaaaaTatttaaaatatttatatacg	23	11	2	5	1	0	0	0	0	0	0	0	0	0	0	0	0	3	1	0	0	13	9			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:101284019T>C	ENST00000309922.6	+	2	548	c.394T>C	c.(394-396)Tat>Cat	p.Y132H		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	132					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)										aaaaaaaaaatatttaaaata	0.338																																																	0													18	17	17					3																	101284019		1749	3971	5720	SO:0001583	missense	0			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.394T>C	3.37:g.101284019T>C	ENSP00000312356:p.Tyr132His		Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase	p.Y132H	ENST00000309922.6	37	c.394	CCDS43122.1	3	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393368	0.62066	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.40756	1.02;1.02	6.17	4.91	0.64330	.	0.360058	0.29579	N	0.011751	T	0.60573	0.2279	M	0.72894	2.215	0.48040	D	0.999571	D	0.76494	0.999	D	0.67231	0.95	T	0.59511	-0.7441	10	0.37606	T	0.19	-26.5936	13.8922	0.63747	0.1213:0.0:0.0:0.8787	.	132	Q7L0Y3	MRRP1_HUMAN	H	132	ENSP00000312356:Y132H;ENSP00000419389:Y132H	ENSP00000312356:Y132H	Y	+	1	0	RG9MTD1	102766709	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.588000	0.60999	2.371000	0.80710	0.533000	0.62120	TAT	TRMT10C	-	NULL	ENSG00000174173		0.338	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10C	HGNC	protein_coding	OTTHUMT00000353400.2	-	0	18	0	T	NM_017819		101284019	1	tier1	-	no_errors	ENST00000309922	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	C	C	101284019	T	C	101284019	3	2	118	1	0	0	0	0	1	0	0	0	13316	1406	49	4	396	4	RG9MTD1	3	101284019	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	48019477	101284019	96738411	41	31237											
PVRL3	25945	genome.wustl.edu	37	chr3	110852704	110852704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatattctgctataggagaaGacggacgtttcgtggagact	12	11	12	6	3	1	3	0	0	1	3	2	6	1	4	0	3	1	2	0	3	5	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:110852704G>A	ENST00000485303.1	+	6	1567	c.1292G>A	c.(1291-1293)aGa>aAa	p.R431K	PVRL3_ENST00000319792.3_3'UTR|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	431					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TATAGGAGAAGACGGACGTTT	0.413																																																	0													146	144	144					3																	110852704		2203	4300	6503	SO:0001583	missense	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1292G>A	3.37:g.110852704G>A	ENSP00000418070:p.Arg431Lys		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.R431K	ENST00000485303.1	37	c.1292	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371564	0.42003	.	.	ENSG00000177707	ENST00000485303	T	0.14022	2.54	5.87	5.87	0.94306	Cytochrome c1, transmembrane anchor, C-terminal (1);	0.052772	0.64402	N	0.000001	T	0.09642	0.0237	L	0.31752	0.955	0.80722	D	1	B	0.28512	0.214	B	0.20767	0.031	T	0.24977	-1.0145	10	0.21014	T	0.42	.	11.0918	0.48121	0.0834:0.0:0.9166:0.0	.	431	Q9NQS3	PVRL3_HUMAN	K	431	ENSP00000418070:R431K	ENSP00000418070:R431K	R	+	2	0	PVRL3	112335394	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.808000	0.75206	2.801000	0.96364	0.454000	0.30748	AGA	PVRL3	-	NULL	ENSG00000177707		0.413	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	-	0	40	0	G	NM_015480		110852704	1	tier1	-	no_errors	ENST00000485303	ensembl	human	known	74_37	missense	32.31	44	21	SNP	1.000	A	A	110852704	G	A	110852704	3	1	118	1	0	0	0	0	1	0	0	0	12886	942	33	3	1314	3	PVRL3	3	110852704	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	9568685	110852704	87169726	42	31238											
PLA1A	51365	genome.wustl.edu	37	chr3	119347680	119347680	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggactaccattattgggaaGttctgcactgcccttttgcc	7	13	9	12	1	1	0	0	0	1	0	1	2	1	2	3	2	4	2	3	2	3	6			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:119347680G>A	ENST00000273371.4	+	10	1326	c.1254G>A	c.(1252-1254)aaG>aaA	p.K418K	PLA1A_ENST00000495992.1_Silent_p.K402K|PLA1A_ENST00000494440.1_Silent_p.K402K|PLA1A_ENST00000488919.1_Silent_p.K245K	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	418	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						TTATTGGGAAGTTCTGCACTG	0.468																																																	0													125	122	123					3																	119347680		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1254G>A	3.37:g.119347680G>A			B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Silent	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.K418	ENST00000273371.4	37	c.1254	CCDS2991.1	3																																																																																			PLA1A	-	pirsf_Lipoprotein_lipase_LIPH	ENSG00000144837		0.468	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	HGNC	protein_coding	OTTHUMT00000355252.2	-	0	45	0	G			119347680	1	tier1	-	no_errors	ENST00000273371	ensembl	human	known	74_37	silent	35.62	47	26	SNP	0.092	A	A	119347680	G	A	119347680	2	1	118	1	0	0	0	0	0	0	0	1	12027	1020	36	3		3	PLA1A	3	119347680	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	8494976	119347680	78674750	43	31239											
C3orf15	89876	genome.wustl.edu	37	chr3	119426309	119426309	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatccattatccaagatattCtctatattggagcaagtcag	13	13	7	8	0	2	1	1	0	1	1	5	3	4	2	2	1	1	1	2	1	6	6			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:119426309C>G	ENST00000273390.5	+	3	337	c.260C>G	c.(259-261)tCt>tGt	p.S87C	MAATS1_ENST00000463700.1_Missense_Mutation_p.S87C	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	87						mitochondrion (GO:0005739)											CCAAGATATTCTCTATATTGG	0.438																																																	0													68	71	70					3																	119426309		2203	4300	6503	SO:0001583	missense	0			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.260C>G	3.37:g.119426309C>G	ENSP00000273390:p.Ser87Cys		A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	superfamily_S-AdoMet_deCO2ase_core	p.S87C	ENST00000273390.5	37	c.260	CCDS2994.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967712	0.74131	.	.	ENSG00000183833	ENST00000383667;ENST00000273390;ENST00000463700	T;T	0.48522	1.82;0.81	5.8	4.92	0.64577	.	0.662158	0.15334	N	0.267850	T	0.67173	0.2865	M	0.70275	2.135	0.40621	D	0.981763	D;D;D;D;D	0.89917	0.997;0.998;0.999;0.996;1.0	D;P;D;P;D	0.68943	0.917;0.893;0.952;0.855;0.961	T	0.70212	-0.4934	10	0.87932	D	0	-2.8021	14.0308	0.64615	0.0:0.8484:0.1516:0.0	.	87;25;87;87;87	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	C	87	ENSP00000273390:S87C;ENSP00000419489:S87C	ENSP00000273390:S87C	S	+	2	0	C3orf15	120908999	0.018000	0.18449	0.998000	0.56505	0.997000	0.91878	0.812000	0.27211	1.430000	0.47334	0.650000	0.86243	TCT	MAATS1	-	NULL	ENSG00000183833		0.438	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	HGNC	protein_coding	OTTHUMT00000355222.1	-	0	29	0	C	NM_033364		119426309	1	tier1	-	no_errors	ENST00000273390	ensembl	human	known	74_37	missense	15.38	55	10	SNP	0.958	G	G	119426309	C	G	119426309	3	3	118	1	0	0	0	0	1	0	0	0	2216	913	32	5	270	5	C3orf15	3	119426309	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	78629	119426309	78596121	44	31240											
STXBP5L	9515	genome.wustl.edu	37	chr3	120840538	120840538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatttaagcgatagcccaaGagatgaaggcaaagtgagta	17	7	11	6	1	0	3	0	2	0	1	0	5	0	3	1	1	2	2	1	1	6	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:120840538G>C	ENST00000273666.6	+	7	927	c.656G>C	c.(655-657)aGa>aCa	p.R219T	STXBP5L_ENST00000472879.1_Missense_Mutation_p.R219T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R219T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R219T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R219T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	219					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)		GATAGCCCAAGAGATGAAGGC	0.289																																																	0													135	124	128					3																	120840538		1829	4079	5908	SO:0001583	missense	0			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.656G>C	3.37:g.120840538G>C	ENSP00000273666:p.Arg219Thr		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.R219T	ENST00000273666.6	37	c.656	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	7.270	0.606916	0.14002	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.52983	0.64;1.68;0.64;0.64;1.68;1.68	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045520	0.85682	D	0.000000	T	0.28665	0.0710	N	0.11560	0.145	0.47698	D	0.999496	P;P	0.38922	0.651;0.651	B;B	0.32677	0.15;0.15	T	0.11891	-1.0569	10	0.12430	T	0.62	-30.8505	19.925	0.97099	0.0:0.0:1.0:0.0	.	219;219	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	T	219	ENSP00000273666:R219T;ENSP00000420019:R219T;ENSP00000419627:R219T;ENSP00000420287:R219T;ENSP00000420666:R219T;ENSP00000420167:R219T	ENSP00000273666:R219T	R	+	2	0	STXBP5L	122323228	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.212000	0.32394	2.810000	0.96702	0.585000	0.79938	AGA	STXBP5L	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000145087		0.289	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	-	0	53	0	G			120840538	1	tier1	-	no_errors	ENST00000273666	ensembl	human	known	74_37	missense	19.28	67	16	SNP	1.000	C	C	120840538	G	C	120840538	3	2	118	1	0	0	0	0	1	0	0	0	15404	942	33	5	678	5	STXBP5L	3	120840538	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	1414229	120840538	77181892	45	31241											
HCLS1	3059	genome.wustl.edu	37	chr3	121356020	121356020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactcgtgtttctccgtctCtcccttgtagtcatatccca	5	15	7	14	2	3	0	1	0	2	0	8	1	5	1	3	1	0	2	3	1	2	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:121356020C>T	ENST00000314583.3	-	7	629	c.538G>A	c.(538-540)Gag>Aag	p.E180K	HCLS1_ENST00000428394.2_Intron|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	180					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)		TTCTCCGTCTCTCCCTTGTAG	0.542																																																	0													176	150	159					3																	121356020		2203	4300	6503	SO:0001583	missense	0				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.538G>A	3.37:g.121356020C>T	ENSP00000320176:p.Glu180Lys		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.E180K	ENST00000314583.3	37	c.538	CCDS3003.1	3	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568213	0.45798	.	.	ENSG00000180353	ENST00000314583	T	0.15952	2.38	5.15	5.15	0.70609	.	0.096585	0.64402	D	0.000001	T	0.14442	0.0349	N	0.03209	-0.39	0.80722	D	1	D	0.55605	0.972	P	0.60012	0.867	T	0.06516	-1.0822	10	0.02654	T	1	-24.1848	16.1241	0.81380	0.0:1.0:0.0:0.0	.	180	P14317	HCLS1_HUMAN	K	180	ENSP00000320176:E180K	ENSP00000320176:E180K	E	-	1	0	HCLS1	122838710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.140000	0.50585	2.398000	0.81561	0.655000	0.94253	GAG	HCLS1	-	pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin	ENSG00000180353		0.542	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCLS1	HGNC	protein_coding	OTTHUMT00000355144.1	-	0	96	0	C	NM_005335		121356020	-1	tier1	-	no_errors	ENST00000314583	ensembl	human	known	74_37	missense	40.69	86	59	SNP	1.000	T	T	121356020	C	T	121356020	3	4	118	1	0	0	0	0	1	0	0	0	7022	922	32	3	954	3	HCLS1	3	121356020	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	515482	121356020	76666410	46	31242											
UMPS	7372	genome.wustl.edu	37	chr3	124459038	124459038	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccactggggactacactAgagcagcggtaagtggtggg	9	7	17	8	1	0	1	0	0	0	1	0	2	0	2	1	6	3	2	1	6	3	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:124459038A>G	ENST00000232607.2	+	4	1256	c.1150A>G	c.(1150-1152)Aga>Gga	p.R384G	UMPS_ENST00000538242.1_Missense_Mutation_p.R206G|UMPS_ENST00000536109.1_Missense_Mutation_p.R292G|UMPS_ENST00000413078.2_Intron	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	384	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)	GGACTACACTAGAGCAGCGGT	0.587																																																	0													72	79	77					3																	124459038		2203	4300	6503	SO:0001583	missense	0				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.1150A>G	3.37:g.124459038A>G	ENSP00000232607:p.Arg384Gly		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom	p.R384G	ENST00000232607.2	37	c.1150	CCDS3029.1	3	.	.	.	.	.	.	.	.	.	.	A	8.286	0.816617	0.16607	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242	T;T;T	0.62788	-0.0;-0.0;-0.0	6.07	-0.864	0.10666	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.827441	0.11453	N	0.562593	T	0.46092	0.1375	L	0.34521	1.04	0.09310	N	1	B;B	0.14805	0.011;0.001	B;B	0.18263	0.021;0.016	T	0.35574	-0.9783	10	0.45353	T	0.12	-1.6791	6.5387	0.22369	0.5782:0.1184:0.3034:0.0	.	206;384	B5LY70;P11172	.;UMPS_HUMAN	G	384;292;206	ENSP00000232607:R384G;ENSP00000443577:R292G;ENSP00000444988:R206G	ENSP00000232607:R384G	R	+	1	2	UMPS	125941728	0.004000	0.15560	0.133000	0.22050	0.412000	0.31113	0.429000	0.21412	-0.074000	0.12820	-0.313000	0.08912	AGA	UMPS	-	pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase	ENSG00000114491		0.587	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UMPS	HGNC	protein_coding	OTTHUMT00000355271.1	-	0	30	0	A	NM_000373		124459038	1	tier1	-	no_errors	ENST00000232607	ensembl	human	known	74_37	missense	27.42	45	17	SNP	0.000	G	G	124459038	A	G	124459038	3	3	118	1	0	0	0	0	1	0	0	0	17030	412	15	4	1164	4	UMPS	3	124459038	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	3103018	124459038	73563392	47	31243											
H1FX	8971	genome.wustl.edu	37	chr3	129034552	129034552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtagatcttggccagcgacGagccgttgcgctcgcccagc	6	8	13	14	5	1	1	0	0	1	1	2	3	1	1	3	1	4	3	3	1	1	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:129034552G>C	ENST00000333762.4	-	1	568	c.194C>G	c.(193-195)tCg>tGg	p.S65W	H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000502789.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	65	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						GGCCAGCGACGAGCCGTTGCG	0.582																																																	0													47	29	35					3																	129034552		2203	4298	6501	SO:0001583	missense	0			D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"Histones / Replication-independent"	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.194C>G	3.37:g.129034552G>C	ENSP00000329662:p.Ser65Trp			Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.S65W	ENST00000333762.4	37	c.194	CCDS3057.1	3	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862199	0.32884	.	.	ENSG00000184897	ENST00000333762	T	0.38560	1.13	3.53	2.64	0.31445	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	U	0.000009	T	0.70413	0.3221	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73030	-0.4111	10	0.87932	D	0	-16.9495	8.6275	0.33899	0.1207:0.0:0.8793:0.0	.	65	Q92522	H1X_HUMAN	W	65	ENSP00000329662:S65W	ENSP00000329662:S65W	S	-	2	0	H1FX	130517242	1.000000	0.71417	0.991000	0.47740	0.125000	0.20455	2.679000	0.46909	0.459000	0.27016	0.462000	0.41574	TCG	H1FX	-	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15	ENSG00000184897		0.582	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FX	HGNC	protein_coding	OTTHUMT00000355455.2	-	0	33	0	G	NM_006026		129034552	-1	tier1	-	no_errors	ENST00000333762	ensembl	human	known	74_37	missense	17.39	38	8	SNP	0.999	C	C	129034552	G	C	129034552	3	2	118	1	0	0	0	0	1	0	0	0	6950	1059	37	5	451	5	H1FX	3	129034552	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	4575514	129034552	68987878	48	31244											
COL6A5	256076	genome.wustl.edu	37	chr3	130098549	130098549	+	Missense_Mutation	SNP	A	A	C	1	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	caatacaggggctgccattgAtcagatgagaagagacggct	13	7	13	8	1	1	4	1	2	0	3	1	6	1	4	1	3	2	2	1	3	3	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:130098549A>C	ENST00000432398.2	+	4	1450	c.956A>C	c.(955-957)gAt>gCt	p.D319A	COL6A5_ENST00000265379.6_Missense_Mutation_p.D319A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	319	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						GCTGCCATTGATCAGATGAGA	0.438																																																	0													72	62	65					3																	130098549		692	1591	2283	SO:0001583	missense	0			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.956A>C	3.37:g.130098549A>C	ENSP00000390895:p.Asp319Ala		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D319A	ENST00000432398.2	37	c.956		3	.	.	.	.	.	.	.	.	.	.	A	5.930	0.355703	0.11239	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.82984	-1.67;-1.67	4.92	4.92	0.64577	.	.	.	.	.	T	0.82199	0.4985	M	0.70595	2.14	0.24000	N	0.996217	B	0.15930	0.015	B	0.22152	0.038	T	0.70215	-0.4933	9	0.27785	T	0.31	.	13.5533	0.61745	1.0:0.0:0.0:0.0	.	319	A8TX70-2	.	A	319	ENSP00000390895:D319A;ENSP00000265379:D319A	ENSP00000265379:D319A	D	+	2	0	COL6A5	131581239	0.339000	0.24784	0.889000	0.34880	0.167000	0.22549	4.828000	0.62730	1.852000	0.53769	0.374000	0.22700	GAT	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.438	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	35	0	A	NM_153264		130098549	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.819	C	C	130098549	A	C	130098549	3	2	118	1	0	0	0	0	1	0	0	0	3709	333	12	4	966	4	COL6A5	3	130098549	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	1063997	130098549	67923881	49	31245											
NUDT16	131870	genome.wustl.edu	37	chr3	131102105	131102105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattggctctgcgcgggagCagttacttgaagctctccag	7	12	12	10	2	2	1	0	1	2	0	3	2	2	2	1	2	4	4	1	2	3	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:131102105C>A	ENST00000521288.1	+	3	539	c.508C>A	c.(508-510)Cag>Aag	p.Q170K	RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000359850.3_Missense_Mutation_p.Q137K|NUDT16_ENST00000537561.1_Missense_Mutation_p.Q124K|NUDT16_ENST00000502852.1_3'UTR			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	170	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						TGCGCGGGAGCAGTTACTTGA	0.577																																																	0													110	97	101					3																	131102105		2203	4300	6503	SO:0001583	missense	0			AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"Nudix motif containing"	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.508C>A	3.37:g.131102105C>A	ENSP00000429274:p.Gln170Lys		B4E3B4|E9PED4|F5GYJ1|Q96N82	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.Q170K	ENST00000521288.1	37	c.508	CCDS3070.2	3	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063511	0.36373	.	.	ENSG00000198585	ENST00000537561;ENST00000359850;ENST00000521288	T;T;T	0.51574	0.7;0.7;0.7	2.95	2.02	0.26589	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.088854	0.47093	U	0.000242	T	0.39860	0.1094	M	0.61703	1.905	0.45005	D	0.998022	P	0.35139	0.486	B	0.28385	0.089	T	0.43196	-0.9406	10	0.87932	D	0	-17.218	9.8468	0.41032	0.0:0.7878:0.2122:0.0	.	170	Q96DE0	NUD16_HUMAN	K	124;137;170	ENSP00000440230:Q124K;ENSP00000352911:Q137K;ENSP00000429274:Q170K	ENSP00000352911:Q137K	Q	+	1	0	NUDT16	132584795	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	3.773000	0.55333	0.754000	0.32968	0.491000	0.48974	CAG	NUDT16	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000198585		0.577	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT16	HGNC	protein_coding	OTTHUMT00000356537.9	-	0	65	0	C	NM_152395		131102105	1	tier1	-	no_errors	ENST00000521288	ensembl	human	known	74_37	missense	28.57	75	30	SNP	1.000	A	A	131102105	C	A	131102105	3	1	118	1	0	0	0	0	1	0	0	0	10771	711	25	3	794	3	NUDT16	3	131102105	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	1003556	131102105	66920325	50	31246											
DZIP1L	199221	genome.wustl.edu	37	chr3	137822805	137822805	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctcagcagtggcagctggGgactgcatgggcagaggaag	9	5	17	10	0	1	1	1	0	0	1	1	3	1	3	1	5	3	5	1	5	1	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:137822805G>C	ENST00000327532.2	-	2	371	c.9C>G	c.(7-9)tcC>tcG	p.S3S	DZIP1L_ENST00000469243.1_Silent_p.S3S	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	3					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						TGGCAGCTGGGGACTGCATGG	0.612																																																	0													38	44	42					3																	137822805		2194	4291	6485	SO:0001819	synonymous_variant	0			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.9C>G	3.37:g.137822805G>C			C9JUG5|Q96M38	Silent	SNP	pfscan_Znf_C2H2	p.S3	ENST00000327532.2	37	c.9	CCDS3096.1	3																																																																																			DZIP1L	-	NULL	ENSG00000158163		0.612	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	-	0	44	0	G	NM_173543		137822805	-1	tier1	-	no_errors	ENST00000327532	ensembl	human	known	74_37	silent	18.84	55	13	SNP	0.000	C	C	137822805	G	C	137822805	2	2	118	1	0	0	0	0	0	0	0	1	4878	1219	43	5		5	DZIP1L	3	137822805	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	6720700	137822805	60199625	51	31247											
VEPH1	79674	genome.wustl.edu	37	chr3	157082201	157082201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcttgtcttcaaaagcctGgattttaacttggagttttt	9	19	7	6	0	3	0	1	0	2	0	3	2	3	2	1	2	2	1	1	2	4	8			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:157082201G>T	ENST00000362010.2	-	8	1535	c.1228C>A	c.(1228-1230)Cag>Aag	p.Q410K	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.Q410K|VEPH1_ENST00000392833.2_Missense_Mutation_p.Q410K|VEPH1_ENST00000543418.1_Missense_Mutation_p.Q410K	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	410						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)			TCAAAAGCCTGGATTTTAACT	0.373																																																	0													162	152	155					3																	157082201		2203	4300	6503	SO:0001583	missense	0			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.1228C>A	3.37:g.157082201G>T	ENSP00000354919:p.Gln410Lys		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q410K	ENST00000362010.2	37	c.1228	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849609	0.71603	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.09630	2.96;3.01;2.96;3.01	5.71	5.71	0.89125	.	0.116735	0.64402	D	0.000015	T	0.15305	0.0369	L	0.36672	1.1	0.80722	D	1	P;P	0.47762	0.802;0.9	B;P	0.47299	0.389;0.543	T	0.02526	-1.1146	10	0.24483	T	0.36	-9.0184	19.8555	0.96756	0.0:0.0:1.0:0.0	.	410;410	Q14D04-2;Q14D04	.;MELT_HUMAN	K	410	ENSP00000376578:Q410K;ENSP00000354919:Q410K;ENSP00000446258:Q410K;ENSP00000376577:Q410K	ENSP00000354919:Q410K	Q	-	1	0	VEPH1	158564895	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.970000	0.76099	2.691000	0.91804	0.650000	0.86243	CAG	VEPH1	-	NULL	ENSG00000197415		0.373	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	-	0	47	0	G	NM_024621		157082201	-1	tier1	-	no_errors	ENST00000362010	ensembl	human	known	74_37	missense	16.51	91	18	SNP	1.000	T	T	157082201	G	T	157082201	3	4	118	1	0	0	0	0	1	0	0	0	17203	1357	47	3	1301	3	VEPH1	3	157082201	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	19259396	157082201	40940229	52	31248											
IFT80	57560	genome.wustl.edu	37	chr3	160099401	160099401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcatcaggaagctttactAtttgagttgtttcactggtt	9	18	8	6	0	3	1	3	1	0	0	3	2	3	2	0	2	2	4	0	2	4	8			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:160099401A>G	ENST00000326448.7	-	3	581	c.149T>C	c.(148-150)aTa>aCa	p.I50T	IFT80_ENST00000477495.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|IFT80_ENST00000483465.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	50					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)			AAGCTTTACTATTTGAGTTGT	0.403																																																	0													108	105	106					3																	160099401		2203	4300	6503	SO:0001583	missense	0			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.149T>C	3.37:g.160099401A>G	ENSP00000312778:p.Ile50Thr		B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I50T	ENST00000326448.7	37	c.149	CCDS3188.1	3	.	.	.	.	.	.	.	.	.	.	A	17.72	3.460042	0.63401	.	.	ENSG00000068885	ENST00000326448;ENST00000498409;ENST00000489004;ENST00000478536	T;T;T;T	0.68181	1.75;0.18;-0.31;-0.31	5.86	5.86	0.93980	WD40 repeat-like-containing domain (1);	0.111999	0.35838	U	0.002951	T	0.58004	0.2092	L	0.46157	1.445	0.80722	D	1	B	0.27498	0.18	B	0.19946	0.027	T	0.55392	-0.8148	10	0.12103	T	0.63	.	16.2405	0.82405	1.0:0.0:0.0:0.0	.	50	Q9P2H3	IFT80_HUMAN	T	50	ENSP00000312778:I50T;ENSP00000420001:I50T;ENSP00000418455:I50T;ENSP00000419468:I50T	ENSP00000312778:I50T	I	-	2	0	IFT80	161582095	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.117000	0.77129	2.238000	0.73509	0.477000	0.44152	ATA	IFT80	-	superfamily_WD40_repeat_dom	ENSG00000068885		0.403	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT80	HGNC	protein_coding	OTTHUMT00000352651.2	-	0	45	0	A	NM_020800		160099401	-1	tier1	-	no_errors	ENST00000326448	ensembl	human	known	74_37	missense	13.58	70	11	SNP	0.997	G	G	160099401	A	G	160099401	3	3	118	1	0	0	0	0	1	0	0	0	7591	449	16	4	2256	4	IFT80	3	160099401	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	3017200	160099401	37923029	53	31249											
SERPINI2	5276	genome.wustl.edu	37	chr3	167185064	167185064	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatgacttcagtacaaaaAattcttcccctagaaaataa	20	10	3	8	0	2	2	1	1	1	1	3	2	3	2	2	0	1	1	2	0	10	6			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:167185064A>C	ENST00000476257.1	-	4	555	c.257T>G	c.(256-258)tTt>tGt	p.F86C	SERPINI2_ENST00000471111.1_Missense_Mutation_p.F86C|SERPINI2_ENST00000465031.1_5'Flank|SERPINI2_ENST00000264677.4_Missense_Mutation_p.F86C|SERPINI2_ENST00000461846.1_Missense_Mutation_p.F86C			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	86					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CAGTACAAAAAATTCTTCCCC	0.323																																																	0													51	53	52					3																	167185064		2187	4292	6479	SO:0001583	missense	0			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.257T>G	3.37:g.167185064A>C	ENSP00000420621:p.Phe86Cys			Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.F86C	ENST00000476257.1	37	c.257	CCDS3200.1	3	.	.	.	.	.	.	.	.	.	.	A	15.34	2.805313	0.50315	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.41	5.41	0.78517	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.82701	0.5094	L	0.49455	1.56	0.45852	D	0.998713	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83400	0.0022	10	0.51188	T	0.08	.	15.4555	0.75311	1.0:0.0:0.0:0.0	.	86;86	B4DDY9;O75830	.;SPI2_HUMAN	C	86	ENSP00000420621:F86C;ENSP00000417692:F86C;ENSP00000264677:F86C;ENSP00000419407:F86C;ENSP00000417752:F86C	ENSP00000264677:F86C	F	-	2	0	SERPINI2	168667758	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	6.357000	0.73051	2.067000	0.61834	0.533000	0.62120	TTT	SERPINI2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000114204		0.323	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINI2	HGNC	protein_coding	OTTHUMT00000350450.1	-	0	41	0	A	NM_006217		167185064	-1	tier1	-	no_errors	ENST00000264677	ensembl	human	known	74_37	missense	30.36	39	17	SNP	1.000	C	C	167185064	A	C	167185064	3	2	118	1	0	0	0	0	1	0	0	0	14164	14	1	4	988	4	SERPINI2	3	167185064	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	7085663	167185064	30837366	54	31250											
ARPM1	84517	genome.wustl.edu	37	chr3	169486006	169486006	+	Silent	SNP	T	T	C	0	1	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	atctgttgccggttggccagTgggttcagcgctggctcagt	4	12	15	10	2	3	0	2	0	1	0	3	0	3	0	2	4	2	5	2	4	0	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:169486006T>C	ENST00000330368.2	-	2	707	c.333A>G	c.(331-333)ccA>ccG	p.P111P	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	111						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											GGTTGGCCAGTGGGTTCAGCG	0.507																																																	0													79	81	80					3																	169486006		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"actin related protein M1"	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.333A>G	3.37:g.169486006T>C			Q96IS0|Q96NJ0	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.P111	ENST00000330368.2	37	c.333	CCDS3206.1	3																																																																																			ACTRT3	-	pfam_Actin-related,smart_Actin-related	ENSG00000184378		0.507	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT3	HGNC	protein_coding	OTTHUMT00000467797.1	-	0	23	0	T	NM_032487		169486006	-1	tier1	-	no_errors	ENST00000330368	ensembl	human	known	74_37	silent	31.03	40	18	SNP	0.875	C	C	169486006	T	C	169486006	2	2	118	1	0	0	0	0	0	0	0	1	977	1683	59	4		4	ARPM1	3	169486006	Silent	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	2300942	169486006	28536424	55	31251											
GHSR	2693	genome.wustl.edu	37	chr3	172163075	172163076	+	Frame_Shift_Ins	INS	-	-	T																															cacccggtacttcttggacaINStgatgttgtacagaatgggg																										TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:172163075_172163076insT	ENST00000241256.2	-	2	1018_1019	c.976_977insA	c.(976-978)atgfs	p.M326fs		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	326					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)			CTTCTTGGACATGATGTTGTAC	0.515																																					Esophageal Squamous(93;641 1401 20883 29581 34638)												0																																										SO:0001589	frameshift_variant	0			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.977dupA	3.37:g.172163076_172163076dupT	ENSP00000241256:p.Met326fs		Q14D12|Q6ISR8|Q92848|Q96RJ7	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn	p.M326fs	ENST00000241256.2	37	c.977_976	CCDS3218.1	3																																																																																			GHSR	-	pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn	ENSG00000121853		0.515	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHSR	HGNC	protein_coding	OTTHUMT00000346728.1		0	53	0	-	NM_004122		172163076	-1	tier1		no_errors	ENST00000241256	ensembl	human	known	74_37	frame_shift_ins	35.00	52	28	INS	1.000:1.000	T	T	172163076	-	T	172163075	7	5	118	1	0	1	1	0	0	0	0	0	6401	217	8	0	127	0	GHSR	3	172163075	Frame_Shift_Ins	INS	-	TCGA-LN-A4A9-01A-11D-A28B-09	2677069	172163075	25859355	56	31252											
THPO	7066	genome.wustl.edu	37	chr3	184090495	184090495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggaaggagaatatccagGctggaggttgggtggcaggg	9	7	21	4	0	0	1	0	0	0	1	1	4	1	3	1	9	0	3	1	9	3	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:184090495G>A	ENST00000204615.7	-	6	1082	c.868C>T	c.(868-870)Cct>Tct	p.P290S	THPO_ENST00000421442.2_Missense_Mutation_p.A251V|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000445696.2_Missense_Mutation_p.P286S	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	290	Pro-rich.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAATATCCAGGCTGGAGGTTG	0.597																																																	0													178	193	188					3																	184090495		2203	4300	6503	SO:0001583	missense	0				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.868C>T	3.37:g.184090495G>A	ENSP00000204615:p.Pro290Ser		A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	p.P290S	ENST00000204615.7	37	c.868	CCDS3265.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.527|8.527	0.870068|0.870068	0.17322|0.17322	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000421442|ENST00000204615;ENST00000445696;ENST00000353488	T|T;T	0.37915|0.29917	1.17|1.55;1.56	4.07|4.07	-2.08|-2.08	0.07254|0.07254	.|Four-helical cytokine, core (1);	.|1.153560	.|0.06474	.|N	.|0.731674	T|T	0.15696|0.15696	0.0378|0.0378	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|B;B	0.09022|0.14012	0.002|0.009;0.005	B|B;B	0.08055|0.14023	0.003|0.01;0.004	T|T	0.26710|0.26710	-1.0095|-1.0095	9|10	0.48119|0.40728	T|T	0.1|0.16	-27.3793|-27.3793	0.4789|0.4789	0.00544|0.00544	0.3028:0.1434:0.3311:0.2227|0.3028:0.1434:0.3311:0.2227	.|.	251|286;290	F8W6L1|P40225-2;P40225	.|.;TPO_HUMAN	V|S	251|290;286;251	ENSP00000411704:A251V|ENSP00000204615:P290S;ENSP00000410763:P286S	ENSP00000411704:A251V|ENSP00000204615:P290S	A|P	-|-	2|1	0|0	THPO|THPO	185573189|185573189	0.002000|0.002000	0.14202|0.14202	0.033000|0.033000	0.17914|0.17914	0.642000|0.642000	0.38348|0.38348	0.044000|0.044000	0.13992|0.13992	-0.361000|-0.361000	0.08125|0.08125	-0.373000|-0.373000	0.07131|0.07131	GCC|CCT	THPO	-	NULL	ENSG00000090534		0.597	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THPO	HGNC	protein_coding	OTTHUMT00000345554.1	-	0	41	0	G	NM_000460		184090495	-1	tier1	-	no_errors	ENST00000204615	ensembl	human	known	74_37	missense	40.54	44	30	SNP	0.005	A	A	184090495	G	A	184090495	3	1	118	1	0	0	0	0	1	0	0	0	15919	1203	42	3	197	3	THPO	3	184090495	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	11927420	184090495	13931935	57	31253											
TPRG1	285386	genome.wustl.edu	37	chr3	188933129	188933129	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttgaaaggtcacgtagctGagacttctggagagaccatt	12	10	11	8	1	2	3	1	2	1	2	2	6	2	4	1	2	1	2	1	2	2	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr3:188933129G>C	ENST00000345063.3	+	3	426	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	TPRG1_ENST00000433971.1_Missense_Mutation_p.E87Q	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	87						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TCACGTAGCTGAGACTTCTGG	0.493																																																	0													83	76	78					3																	188933129		2203	4300	6503	SO:0001583	missense	0			AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"family with sequence similarity 79, member B"	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.259G>C	3.37:g.188933129G>C	ENSP00000341031:p.Glu87Gln			Missense_Mutation	SNP	pfam_Inositol_phosphatase	p.E87Q	ENST00000345063.3	37	c.259	CCDS3292.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.273|9.273	1.046111|1.046111	0.19748|0.19748	.|.	.|.	ENSG00000188001|ENSG00000188001	ENST00000433971;ENST00000412373;ENST00000345063;ENST00000456832|ENST00000425670	.|.	.|.	.|.	5.27|5.27	-0.219|-0.219	0.13135|0.13135	.|.	0.695370|.	0.15654|.	N|.	0.251227|.	T|.	0.14960|.	0.0361|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.10450|.	0.005|.	T|.	0.26780|.	-1.0093|.	9|.	0.30078|.	T|.	0.28|.	-2.6688|-2.6688	4.6986|4.6986	0.12816|0.12816	0.405:0.1683:0.4268:0.0|0.405:0.1683:0.4268:0.0	.|.	87|.	Q6ZUI0|.	TPRG1_HUMAN|.	Q|S	87|14	.|.	ENSP00000341031:E87Q|.	E|X	+|+	1|2	0|2	TPRG1|TPRG1	190415823|190415823	0.007000|0.007000	0.16637|0.16637	0.111000|0.111000	0.21465|0.21465	0.901000|0.901000	0.52897|0.52897	-0.170000|-0.170000	0.09897|0.09897	-0.265000|-0.265000	0.09352|0.09352	0.655000|0.655000	0.94253|0.94253	GAG|TGA	TPRG1	-	pfam_Inositol_phosphatase	ENSG00000188001		0.493	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRG1	HGNC	protein_coding	OTTHUMT00000343931.1	-	0	37	0	G	NM_198485		188933129	1	tier1	-	no_errors	ENST00000345063	ensembl	human	known	74_37	missense	14.10	67	11	SNP	0.113	C	C	188933129	G	C	188933129	3	2	118	1	0	0	0	0	1	0	0	0	16466	1291	45	5	265	5	TPRG1	3	188933129	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	4842634	188933129	9089301	58	31254											
TACC3	10460	genome.wustl.edu	37	chr4	1732903	1732903	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccctttcctccaggagaGagccttgaactctgccagca	8	9	9	15	0	1	2	0	1	1	1	3	4	3	3	5	1	5	1	5	1	1	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr4:1732903G>C	ENST00000313288.4	+	6	1572	c.1466G>C	c.(1465-1467)aGa>aCa	p.R489T		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	489					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)			CTCCAGGAGAGAGCCTTGAAC	0.592																																					Ovarian(120;482 2294 11894 35824)												0													116	113	114					4																	1732903		2203	4300	6503	SO:0001583	missense	0			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.1466G>C	4.37:g.1732903G>C	ENSP00000326550:p.Arg489Thr		Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	pfam_TACC	p.R489T	ENST00000313288.4	37	c.1466	CCDS3352.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.938|3.938	-0.014861|-0.014861	0.07681|0.07681	.|.	.|.	ENSG00000013810|ENSG00000013810	ENST00000343760;ENST00000470136|ENST00000485989;ENST00000313288	T|T;T	0.47528|0.43294	0.84|0.95;2.99	4.1|4.1	1.36|1.36	0.22044|0.22044	.|.	.|1.277740	.|0.05929	.|N	.|0.634780	T|T	0.32526|0.32526	0.0832|0.0832	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.20550	.|0.017;0.008;0.046	.|B;B;B	.|0.18263	.|0.018;0.015;0.021	T|T	0.24512|0.24512	-1.0158|-1.0158	7|10	0.87932|0.30854	D|T	0|0.27	-6.0E-4|-6.0E-4	3.7296|3.7296	0.08488|0.08488	0.228:0.2084:0.5636:0.0|0.228:0.2084:0.5636:0.0	.|.	.|489;129;489	.|B4DYJ1;C9JWI7;Q9Y6A5	.|.;.;TACC3_HUMAN	D|T	129;155|129;489	ENSP00000420838:E155D|ENSP00000419210:R129T;ENSP00000326550:R489T	ENSP00000345465:E129D|ENSP00000326550:R489T	E|R	+|+	3|2	2|0	TACC3|TACC3	1702701|1702701	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.013000|0.013000	0.08279|0.08279	-0.506000|-0.506000	0.06359|0.06359	0.478000|0.478000	0.27488|0.27488	0.563000|0.563000	0.77884|0.77884	GAG|AGA	TACC3	-	NULL	ENSG00000013810		0.592	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACC3	HGNC	protein_coding	OTTHUMT00000203730.2	-	0	51	0	G			1732903	1	tier1	-	no_errors	ENST00000313288	ensembl	human	known	74_37	missense	28.85	37	15	SNP	0.000	C	C	1732903	G	C	1732903	3	2	118	1	0	0	0	0	1	0	0	0	15550	942	33	5	1484	5	TACC3	4	1732903	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09		1732903	189421373	59	31255											
TACC3	10460	genome.wustl.edu	37	chr4	1733001	1733001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctgccttggagctgaaaGaggagagcttcagagacccc	11	6	13	11	0	1	4	1	1	0	3	1	7	1	5	4	2	4	2	4	2	1	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr4:1733001G>C	ENST00000313288.4	+	6	1670	c.1564G>C	c.(1564-1566)Gag>Cag	p.E522Q		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	522					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E522Q(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GGAGCTGAAAGAGGAGAGCTT	0.627																																					Ovarian(120;482 2294 11894 35824)												1	Substitution - Missense(1)	urinary_tract(1)											67	69	69					4																	1733001		2203	4299	6502	SO:0001583	missense	0			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.1564G>C	4.37:g.1733001G>C	ENSP00000326550:p.Glu522Gln		Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	pfam_TACC	p.E522Q	ENST00000313288.4	37	c.1564	CCDS3352.1	4	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903902	0.52333	.	.	ENSG00000013810	ENST00000485989;ENST00000313288	T;T	0.50001	0.76;2.62	4.02	2.76	0.32466	.	0.497335	0.17984	N	0.155423	T	0.55194	0.1905	M	0.66939	2.045	0.09310	N	1	D;P;D	0.65815	0.991;0.557;0.995	P;B;P	0.57101	0.813;0.167;0.769	T	0.43877	-0.9364	10	0.54805	T	0.06	-14.4895	6.1157	0.20126	0.1869:0.0:0.8131:0.0	.	522;162;522	B4DYJ1;C9JWI7;Q9Y6A5	.;.;TACC3_HUMAN	Q	162;522	ENSP00000419210:E162Q;ENSP00000326550:E522Q	ENSP00000326550:E522Q	E	+	1	0	TACC3	1702799	0.964000	0.33143	0.105000	0.21289	0.271000	0.26615	1.605000	0.36815	0.898000	0.36418	0.462000	0.41574	GAG	TACC3	-	NULL	ENSG00000013810		0.627	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACC3	HGNC	protein_coding	OTTHUMT00000203730.2	-	0	36	0	G			1733001	1	tier1	-	no_errors	ENST00000313288	ensembl	human	known	74_37	missense	27.78	13	5	SNP	0.117	C	C	1733001	G	C	1733001	3	2	118	1	0	0	0	0	1	0	0	0	15550	943	33	5	1582	5	TACC3	4	1733001	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	98	1733001	189421275	60	31256											
CPZ	8532	genome.wustl.edu	37	chr4	8602970	8602970	+	Missense_Mutation	SNP	T	T	G	0	1	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	ggccagctccgagtacatccTgctgagcgttctacaccagc	8	8	10	15	2	1	1	0	1	1	0	3	2	3	1	4	1	6	4	4	1	2	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr4:8602970T>G	ENST00000360986.4	+	3	416	c.242T>G	c.(241-243)cTg>cGg	p.L81R	CPZ_ENST00000429646.2_5'Flank|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.L70R	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	81	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGTACATCCTGCTGAGCGTT	0.657																																																	0													68	59	62					4																	8602970		2203	4300	6503	SO:0001583	missense	0			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.242T>G	4.37:g.8602970T>G	ENSP00000354255:p.Leu81Arg		O00520|Q96MX2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.L81R	ENST00000360986.4	37	c.242	CCDS33953.1	4	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068932	0.76301	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.80033	-1.33;-1.33	3.59	3.59	0.41128	Frizzled domain (5);	0.000000	0.64402	D	0.000003	D	0.87752	0.6256	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88870	0.3332	10	0.87932	D	0	-20.4707	12.344	0.55109	0.0:0.0:0.0:1.0	.	70;81	Q66K79-2;Q66K79	.;CBPZ_HUMAN	R	81;70	ENSP00000354255:L81R;ENSP00000315074:L70R	ENSP00000315074:L70R	L	+	2	0	CPZ	8653870	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.001000	0.76297	1.477000	0.48234	0.459000	0.35465	CTG	CPZ	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000109625		0.657	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	-	0	125	0	T	NM_003652		8602970	1	tier1	-	no_errors	ENST00000360986	ensembl	human	known	74_37	missense	39.05	64	41	SNP	1.000	G	G	8602970	T	G	8602970	3	3	118	1	0	0	0	0	1	0	0	0	3846	1580	55	4	252	4	CPZ	4	8602970	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	6869969	8602970	182551306	61	31257											
ARAP2	116984	genome.wustl.edu	37	chr4	36130237	36130237	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacttttcaacacagcCgtcacatcttcaagctgatg	14	10	6	11	1	4	2	3	1	1	1	4	2	4	2	1	0	4	1	1	0	4	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr4:36130237C>G	ENST00000303965.4	-	21	4047	c.3558G>C	c.(3556-3558)acG>acC	p.T1186T		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1186	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						TCAACACAGCCGTCACATCTT	0.388																																																	0													118	115	116					4																	36130237		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3558G>C	4.37:g.36130237C>G			Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.T1186	ENST00000303965.4	37	c.3558	CCDS3441.1	4																																																																																			ARAP2	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000047365		0.388	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0	52	0	C	NM_015230		36130237	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	silent	54.90	23	28	SNP	0.001	G	G	36130237	C	G	36130237	2	3	118	1	0	0	0	0	0	0	0	1	839	639	23	5		5	ARAP2	4	36130237	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	27527267	36130237	155024039	62	31258											
LIAS	11019	genome.wustl.edu	37	chr4	39465225	39465225	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgccacagccacgatcatGgtagggccagcctcaacctc	10	5	9	17	2	2	0	2	0	0	0	3	1	2	0	6	2	3	1	6	2	2	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr4:39465225G>T	ENST00000261434.3	+	4	511	c.393G>T	c.(391-393)atG>atT	p.M131I	LIAS_ENST00000340169.2_Splice_Site_p.M131I|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000381846.1_Splice_Site_p.M131I|LIAS_ENST00000513731.1_Intron	NM_006859.2	NP_006850.2			lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						CCACGATCATGGTAGGGCCAG	0.463																																																	0													70	65	67					4																	39465225		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000261434.3:c.393+1G>T	4.37:g.39465225G>T				Missense_Mutation	SNP	pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth	p.M131I	ENST00000261434.3	37	c.393	CCDS3453.1	4	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931068	0.92389	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000381846	T;T;T	0.75938	-0.98;-0.98;-0.98	5.28	5.28	0.74379	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);	0.038631	0.85682	D	0.000000	D	0.90861	0.7129	H	0.97516	4.02	0.80722	D	1	P;P;D	0.76494	0.929;0.868;0.999	P;P;D	0.71870	0.839;0.85;0.975	D	0.93924	0.7208	10	0.87932	D	0	-18.2236	16.0604	0.80836	0.0:0.0:1.0:0.0	.	131;131;131	C9JCF6;O43766;Q6P5Q6	.;LIAS_HUMAN;.	I	131	ENSP00000340676:M131I;ENSP00000261434:M131I;ENSP00000371270:M131I	ENSP00000261434:M131I	M	+	3	0	LIAS	39141620	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.343000	0.97047	2.473000	0.83533	0.655000	0.94253	ATG	LIAS	-	smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth	ENSG00000121897		0.463	LIAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIAS	HGNC	protein_coding	OTTHUMT00000216815.1	-	0	45	0	G	NM_194451	Missense_Mutation	39465225	1	tier1	-	no_errors	ENST00000261434	ensembl	human	known	74_37	missense	38.60	35	22	SNP	1.000	T	T	39465225	G	T	39465225	5	4	118	1	0	0	0	0	0	0	1	0	8807	1362	47	3	407	3	LIAS	4	39465225	Splice_Site	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	3334988	39465225	151689051	63	31259											
RPL34	6164	genome.wustl.edu	37	chr4	109546356	109546356	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcacaagcacagagtcaGaaagctaaataaaaaaatga	23	4	8	6	0	1	3	1	1	0	2	1	3	1	3	0	1	2	3	0	1	9	2	rs1065701		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr4:109546356G>C	ENST00000394668.2	+	5	408	c.342G>C	c.(340-342)caG>caC	p.Q114H	RPL34_ENST00000394667.3_Missense_Mutation_p.Q114H|RPL34_ENST00000394665.1_Missense_Mutation_p.Q114H|RPL34_ENST00000506397.1_Missense_Mutation_p.Q114H|RPL34_ENST00000502534.1_Missense_Mutation_p.Q114H	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	114					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)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		CACAGAGTCAGAAAGCTAAAT	0.318																																																	0																																										SO:0001583	missense	0			AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"L ribosomal proteins"	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.342G>C	4.37:g.109546356G>C	ENSP00000378163:p.Gln114His		Q6FG66|Q9BUZ2	Missense_Mutation	SNP	pfam_Ribosomal_L34Ae,prints_Ribosomal_L34Ae	p.Q114H	ENST00000394668.2	37	c.342	CCDS3680.1	4	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665224	0.29604	.	.	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	4.61	0.222	0.15288	.	0.122383	0.56097	N	0.000031	T	0.57489	0.2057	M	0.71036	2.16	0.48395	D	0.999641	B	0.10296	0.003	B	0.08055	0.003	T	0.54899	-0.8224	9	0.56958	D	0.05	.	11.0861	0.48089	0.4193:0.0:0.5807:0.0	rs1065701;rs1065701	114	P49207	RL34_HUMAN	H	114	.	ENSP00000378160:Q114H	Q	+	3	2	RPL34	109765805	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	2.241000	0.43097	-0.070000	0.12908	-0.797000	0.03246	CAG	RPL34	-	NULL	ENSG00000109475		0.318	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL34	HGNC	protein_coding	OTTHUMT00000363468.1	-	0	44	0	G	NM_033625, NM_000995		109546356	1	tier1	rs1065701	no_errors	ENST00000394665	ensembl	human	known	74_37	missense	21.05	30	8	SNP	0.994	C	C	109546356	G	C	109546356	3	2	118	1	0	0	0	0	1	0	0	0	13628	933	33	5	356	5	RPL34	4	109546356	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	70081131	109546356	81607920	64	31260											
NDST4	64579	genome.wustl.edu	37	chr4	115997552	115997552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagtcttccccaggaagaGggcctttctcaaccttgggg	7	10	11	13	0	2	1	1	0	2	1	5	2	4	2	5	4	1	0	5	4	2	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr4:115997552G>A	ENST00000264363.2	-	2	1319	c.641C>T	c.(640-642)cCt>cTt	p.P214L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	214	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)		CCCAGGAAGAGGGCCTTTCTC	0.413																																																	0													74	75	75					4																	115997552		2203	4300	6503	SO:0001583	missense	0			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.641C>T	4.37:g.115997552G>A	ENSP00000264363:p.Pro214Leu		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P214L	ENST00000264363.2	37	c.641	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336102	0.60963	.	.	ENSG00000138653	ENST00000264363	T	0.36520	1.25	5.25	5.25	0.73442	.	0.229463	0.44285	D	0.000473	T	0.41880	0.1178	M	0.69358	2.11	0.80722	D	1	B	0.12013	0.005	B	0.21151	0.033	T	0.26189	-1.0110	10	0.35671	T	0.21	.	18.8669	0.92296	0.0:0.0:1.0:0.0	.	214	Q9H3R1	NDST4_HUMAN	L	214	ENSP00000264363:P214L	ENSP00000264363:P214L	P	-	2	0	NDST4	116217001	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.709000	0.98729	2.437000	0.82529	0.591000	0.81541	CCT	NDST4	-	pfam_Heparan_SO4_deacetylase	ENSG00000138653		0.413	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	-	0	25	0	G	NM_022569		115997552	-1	tier1	-	no_errors	ENST00000264363	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A	A	115997552	G	A	115997552	3	1	118	1	0	0	0	0	1	0	0	0	10297	1000	35	3	2029	3	NDST4	4	115997552	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	6451196	115997552	75156724	65	31261											
TIGD4	201798	genome.wustl.edu	37	chr4	153691031	153691032	+	Frame_Shift_Ins	INS	-	-	A																															gatttgaatcctgcctcttcINSatagcttttaacaatagtct																										TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr4:153691031_153691032insA	ENST00000304337.2	-	2	1945_1946	c.1125_1126insT	c.(1123-1128)tatgaafs	p.E376fs		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	376						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)					CCTGCCTCTTCATAGCTTTTAA	0.421																																																	0																																										SO:0001589	frameshift_variant	0			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.1126dupT	4.37:g.153691032_153691032dupA	ENSP00000355162:p.Glu376fs		Q96LP5	Frame_Shift_Ins	INS	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E375fs	ENST00000304337.2	37	c.1126_1125	CCDS34079.1	4																																																																																			TIGD4	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000169989		0.421	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	HGNC	protein_coding	OTTHUMT00000365028.1		0	62	0	-	NM_145720		153691032	-1	tier1		no_errors	ENST00000304337	ensembl	human	known	74_37	frame_shift_ins	24.00	57	18	INS	1.000:0.998	A	A	153691032	-	A	153691031	7	5	118	1	0	1	1	0	0	0	0	0	15945	835	29	0	416	0	TIGD4	4	153691031	Frame_Shift_Ins	INS	-	TCGA-LN-A4A9-01A-11D-A28B-09	37693479	153691031	37463245	66	31262											
FAT1	2195	genome.wustl.edu	37	chr4	187524844	187524844	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatctgttacgctgacattGagaaggtattgccctatgtc	9	13	9	10	1	1	2	0	2	1	1	2	3	1	2	2	1	2	3	2	1	4	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr4:187524844G>C	ENST00000441802.2	-	19	11045	c.10836C>G	c.(10834-10836)ctC>ctG	p.L3612L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3612	Cadherin 33. {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						CGCTGACATTGAGAAGGTATT	0.507										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													120	121	121					4																	187524844		2184	4279	6463	SO:0001819	synonymous_variant	0			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.10836C>G	4.37:g.187524844G>C				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.L3612	ENST00000441802.2	37	c.10836	CCDS47177.1	4																																																																																			FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.507	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	0	34	0	G	NM_005245		187524844	-1	tier1	-	no_errors	ENST00000441802	ensembl	human	known	74_37	silent	32.76	38	19	SNP	0.981	C	C	187524844	G	C	187524844	2	2	118	1	0	0	0	0	0	0	0	1	5711	1277	45	5		5	FAT1	4	187524844	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	33833813	187524844	3629432	67	31263											
ERAP1	51752	genome.wustl.edu	37	chr5	96132929	96132929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcaaaatctgaaatgatGaaggccaccagataggtgct	15	8	10	8	0	2	4	1	3	1	1	2	5	2	4	2	2	1	1	2	2	5	1	rs138975720		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr5:96132929G>T	ENST00000443439.2	-	4	813	c.747C>A	c.(745-747)ttC>ttA	p.F249L	ERAP1_ENST00000296754.3_Missense_Mutation_p.F249L	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	249					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)		CTGAAATGATGAAGGCCACCA	0.418																																																	0													119	102	108					5																	96132929		2203	4300	6503	SO:0001583	missense	0			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.747C>A	5.37:g.96132929G>T	ENSP00000406304:p.Phe249Leu		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.F249L	ENST00000443439.2	37	c.747	CCDS47250.1	5	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449028	0.63178	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.03553	3.89;3.89	5.32	4.25	0.50352	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.168555	0.53938	N	0.000050	T	0.06962	0.0177	M	0.62723	1.935	0.43267	D	0.99521	B;B;B	0.24043	0.004;0.046;0.096	B;B;B	0.33750	0.047;0.169;0.159	T	0.07028	-1.0794	10	0.72032	D	0.01	.	9.9864	0.41843	0.1596:0.0:0.8404:0.0	.	249;249;249	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	L	249	ENSP00000296754:F249L;ENSP00000406304:F249L	ENSP00000296754:F249L	F	-	3	2	ERAP1	96158685	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.308000	0.59129	2.515000	0.84797	0.549000	0.68633	TTC	ERAP1	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000164307		0.418	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000370699.1	-	0	15	0	G	NM_016442		96132929	-1	tier1	-	no_errors	ENST00000296754	ensembl	human	known	74_37	missense	48.00	13	12	SNP	1.000	T	T	96132929	G	T	96132929	3	4	118	1	0	0	0	0	1	0	0	0	5219	1281	45	3	2175	3	ERAP1	5	96132929	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09		96132929	84782331	68	31264											
KCNN2	3781	genome.wustl.edu	37	chr5	113740169	113740169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatggagcagatgactggaGaatagccatgacttatgagc	14	8	12	7	0	0	5	0	3	0	2	0	7	0	6	1	2	3	1	1	2	4	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr5:113740169G>A	ENST00000512097.3	+	4	1635	c.617G>A	c.(616-618)aGa>aAa	p.R206K	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.R206K			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	206					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GATGACTGGAGAATAGCCATG	0.413																																																	0													178	168	172					5																	113740169		2202	4300	6502	SO:0001583	missense	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.617G>A	5.37:g.113740169G>A	ENSP00000427120:p.Arg206Lys		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.R206K	ENST00000512097.3	37	c.617	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.060431	0.93846	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98926	-5.24;-5.24	5.29	5.29	0.74685	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	M	0.92026	3.265	0.80722	D	1	D	0.55605	0.972	P	0.60609	0.877	D	0.99253	1.0888	10	0.72032	D	0.01	.	18.5281	0.90980	0.0:0.0:1.0:0.0	.	206	Q9H2S1	KCNN2_HUMAN	K	206	ENSP00000427120:R206K;ENSP00000264773:R206K	ENSP00000264773:R206K	R	+	2	0	KCNN2	113768068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.827000	0.86722	2.467000	0.83353	0.462000	0.41574	AGA	KCNN2	-	pfam_K_chnl_Ca-activ_SK	ENSG00000080709		0.413	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2	-	0	48	0	G	NM_021614		113740169	1	tier1	-	no_errors	ENST00000264773	ensembl	human	known	74_37	missense	53.66	19	22	SNP	1.000	A	A	113740169	G	A	113740169	3	1	118	1	0	0	0	0	1	0	0	0	8106	942	33	3	627	3	KCNN2	5	113740169	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	17607240	113740169	67175091	69	31265											
BRD8	10902	genome.wustl.edu	37	chr5	137498825	137498825	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcagatactcacaactgtGaagaagcagggctgctgggg	11	8	13	9	0	2	3	2	1	1	2	3	3	2	3	0	3	4	3	0	3	4	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr5:137498825G>C	ENST00000254900.5	-	15	2452	c.2081C>G	c.(2080-2082)tCa>tGa	p.S694*	BRD8_ENST00000402931.1_Nonsense_Mutation_p.S694*|BRD8_ENST00000455658.2_Nonsense_Mutation_p.S653*|BRD8_ENST00000411594.2_Nonsense_Mutation_p.S697*|BRD8_ENST00000515014.1_Intron|BRD8_ENST00000230901.5_Nonsense_Mutation_p.S767*	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	694					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCACAACTGTGAAGAAGCAGG	0.493																																																	0													147	127	134					5																	137498825		2203	4300	6503	SO:0001587	stop_gained	0			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2081C>G	5.37:g.137498825G>C	ENSP00000254900:p.Ser694*		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Nonsense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S694*	ENST00000254900.5	37	c.2081	CCDS4198.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.734196|9.734196	0.99251|0.99251	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000441656|ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.77644|.	0.4161|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79087|.	-0.1947|.	3|.	.|0.66056	.|D	.|0.02	-3.0372|-3.0372	18.3245|18.3245	0.90248|0.90248	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	688|694;723;692;767;694;697;588;653;162	.|.	.|ENSP00000230901:S767X	H|S	-|-	1|2	0|0	BRD8|BRD8	137526724|137526724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.156000|9.156000	0.94705|0.94705	2.808000|2.808000	0.96608|0.96608	0.561000|0.561000	0.74099|0.74099	CAC|TCA	BRD8	-	superfamily_Bromodomain	ENSG00000112983		0.493	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	-	0	66	0	G	NM_006696		137498825	-1	tier1	-	no_errors	ENST00000254900	ensembl	human	known	74_37	nonsense	36.36	56	32	SNP	1.000	C	C	137498825	G	C	137498825	4	2	118	1	0	0	0	0	0	1	0	0	1510	1294	45	5	1742	5	BRD8	5	137498825	Nonsense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	23758656	137498825	43416435	70	31266											
PCDHA10	56139	genome.wustl.edu	37	chr5	140237666	140237666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccaggcacccaaggcctCgtcgcgggcttcagtgggcg	6	5	15	15	4	1	0	1	0	0	0	3	0	1	0	3	4	1	2	3	4	1	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr5:140237666C>T	ENST00000307360.5	+	1	2033	c.2033C>T	c.(2032-2034)tCg>tTg	p.S678L	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	678	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAAGGCCTCGTCGCGGGCT	0.667																																																	0													20	21	20					5																	140237666		1322	2287	3609	SO:0001583	missense	0			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.2033C>T	5.37:g.140237666C>T	ENSP00000304234:p.Ser678Leu		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S678L	ENST00000307360.5	37	c.2033	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	9.896	1.205484	0.22205	.	.	ENSG00000250120	ENST00000307360	T	0.53640	0.61	3.6	2.73	0.32206	Cadherin (1);	.	.	.	.	T	0.37945	0.1022	M	0.70903	2.155	0.09310	N	1	B;B	0.27192	0.171;0.128	B;B	0.21151	0.03;0.033	T	0.30001	-0.9993	9	0.11485	T	0.65	.	3.5852	0.07969	0.2602:0.5227:0.0:0.2171	.	678;678	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	L	678	ENSP00000304234:S678L	ENSP00000304234:S678L	S	+	2	0	PCDHA10	140217850	0.000000	0.05858	0.006000	0.13384	0.053000	0.15095	-2.165000	0.01274	0.843000	0.35070	-0.339000	0.08088	TCG	PCDHA10	-	pfscan_Cadherin	ENSG00000250120		0.667	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	-	0	91	0	C	NM_018901		140237666	1	tier1	-	no_errors	ENST00000307360	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.000	T	T	140237666	C	T	140237666	3	4	118	1	0	0	0	0	1	0	0	0	11559	893	31	1	2035	1	PCDHA10	5	140237666	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	2738841	140237666	40677594	71	31267											
PCDHA13	56136	genome.wustl.edu	37	chr5	140261985	140261985	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaagcaaaacacggcaccttCgtgggccgcatcgctcagga	11	5	12	13	4	1	0	1	0	0	0	3	2	1	1	2	3	2	4	2	3	3	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr5:140261985C>G	ENST00000289272.2	+	1	132	c.132C>G	c.(130-132)ttC>ttG	p.F44L	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.F44L|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	44	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(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)			ACGGCACCTTCGTGGGCCGCA	0.652																																					Melanoma(147;1739 1852 5500 27947 37288)												0													61	69	66					5																	140261985		2203	4300	6503	SO:0001583	missense	0			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.132C>G	5.37:g.140261985C>G	ENSP00000289272:p.Phe44Leu		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F44L	ENST00000289272.2	37	c.132	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	c	10.42	1.344668	0.24426	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.28069	1.63;1.63	5.58	2.85	0.33270	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.24774	0.0601	L	0.49256	1.55	0.28475	N	0.915234	P;B;P	0.44344	0.833;0.156;0.627	B;B;B	0.39152	0.292;0.169;0.118	T	0.13415	-1.0510	9	0.46703	T	0.11	.	5.5414	0.17039	0.0:0.5135:0.1323:0.3542	.	44;44;44	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	44	ENSP00000386821:F44L;ENSP00000289272:F44L	ENSP00000289272:F44L	F	+	3	2	PCDHA13	140242169	0.000000	0.05858	1.000000	0.80357	0.357000	0.29423	-1.762000	0.01803	0.738000	0.32606	-0.215000	0.12644	TTC	PCDHA13	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000239389		0.652	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0	121	0	C	NM_018904		140261985	1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	33.64	71	36	SNP	0.993	G	G	140261985	C	G	140261985	3	3	118	1	0	0	0	0	1	0	0	0	11562	883	31	5	134	5	PCDHA13	5	140261985	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	24319	140261985	40653275	72	31268											
SYCP2L	221711	genome.wustl.edu	37	chr6	10930703	10930703	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaaatccctaaaatCatattccagtagaaagaaga	22	7	6	6	0	1	4	1	0	0	4	3	5	3	4	2	0	0	1	2	0	9	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr6:10930703C>A	ENST00000283141.6	+	19	1885	c.1589C>A	c.(1588-1590)tCa>tAa	p.S530*		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	530						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)			TCCCTAAAATCATATTCCAGT	0.338																																																	0													61	58	59					6																	10930703		1816	4073	5889	SO:0001587	stop_gained	0			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.1589C>A	6.37:g.10930703C>A	ENSP00000283141:p.Ser530*		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Nonsense_Mutation	SNP	NULL	p.S530*	ENST00000283141.6	37	c.1589	CCDS43423.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.098060	0.97281	.	.	ENSG00000153157	ENST00000283141	.	.	.	5.39	3.62	0.41486	.	0.783877	0.11821	N	0.526252	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-5.7769	8.3542	0.32321	0.0:0.8196:0.0:0.1803	.	.	.	.	X	530	.	ENSP00000283141:S530X	S	+	2	0	SYCP2L	11038689	0.066000	0.20996	0.004000	0.12327	0.009000	0.06853	1.136000	0.31467	0.766000	0.33244	-0.145000	0.13849	TCA	SYCP2L	-	NULL	ENSG00000153157		0.338	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3	-	0	24	0	C	NM_194299		10930703	1	tier1	-	no_errors	ENST00000283141	ensembl	human	known	74_37	nonsense	22.58	24	7	SNP	0.070	A	A	10930703	C	A	10930703	4	1	118	1	0	0	0	0	0	1	0	0	15480	838	29	3	1663	3	SYCP2L	6	10930703	Nonsense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09		10930703	160184364	73	31269											
MDC1	9656	genome.wustl.edu	37	chr6	30679848	30679848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtggcccaccctgggccCccacctcatgagctctctcc	5	7	9	20	0	2	1	1	1	1	0	4	1	3	1	6	3	1	1	6	3	0	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr6:30679848C>G	ENST00000376406.3	-	5	2518	c.1871G>C	c.(1870-1872)gGg>gCg	p.G624A	MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.G624A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	624					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						ACCCTGGGCCCCCACCTCATG	0.572								Other conserved DNA damage response genes																																									0													55	51	52					6																	30679848		1511	2709	4220	SO:0001583	missense	0			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.1871G>C	6.37:g.30679848C>G	ENSP00000365588:p.Gly624Ala		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.G624A	ENST00000376406.3	37	c.1871	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	C	9.625	1.134755	0.21123	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.06449	3.42;3.3	5.1	2.19	0.27852	.	0.699813	0.11833	N	0.525053	T	0.01222	0.0040	L	0.47716	1.5	0.09310	N	1	B;P;B;B	0.40731	0.297;0.728;0.384;0.087	B;B;B;B	0.37451	0.112;0.25;0.113;0.104	T	0.35400	-0.9790	10	0.02654	T	1	-3.0882	4.0387	0.09741	0.1622:0.59:0.1574:0.0904	.	624;496;624;624	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	A	624;624;624;496	ENSP00000365588:G624A;ENSP00000365587:G624A	ENSP00000365587:G624A	G	-	2	0	MDC1	30787827	0.000000	0.05858	0.001000	0.08648	0.291000	0.27294	0.201000	0.17276	0.498000	0.27948	0.462000	0.41574	GGG	MDC1	-	NULL	ENSG00000137337		0.572	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	-	0	78	0	C	NM_014641		30679848	-1	tier1	-	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	35.82	43	24	SNP	0.001	G	G	30679848	C	G	30679848	3	3	118	1	0	0	0	0	1	0	0	0	9441	623	22	5	4442	5	MDC1	6	30679848	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	19749145	30679848	140435219	74	31270											
COL11A2	1302	genome.wustl.edu	37	chr6	33147584	33147584	+	Splice_Site	SNP	T	T	C	0	1	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	caccactgccaaaccggaacTgaggtcaaggagagaaggtc	14	4	12	11	1	1	2	1	1	0	1	2	5	1	4	3	4	3	0	3	4	4	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr6:33147584T>C	ENST00000374708.4	-	11	1360		c.e11-2		COL11A2_ENST00000374713.1_Splice_Site|COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000341947.2_Splice_Site|COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000374712.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000477772.1_5'Flank	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2						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						AAACCGGAACTGAGGTCAAGG	0.637																																					Melanoma(1;90 116 3946 5341 17093)												0													46	54	51					6																	33147584		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1102-2A>G	6.37:g.33147584T>C			A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Splice_Site	SNP	-	e13-2	ENST00000374708.4	37	c.1360-2	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	t	16.10	3.028643	0.54790	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8872	0.41268	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A2	33255562	1.000000	0.71417	0.975000	0.42487	0.810000	0.45777	3.870000	0.56070	1.842000	0.53543	0.444000	0.29173	.	COL11A2	-	-	ENSG00000204248		0.637	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	-	0	50	0	T		Intron	33147584	-1	tier1	-	no_errors	ENST00000341947	ensembl	human	known	74_37	splice_site	27.66	34	13	SNP	0.998	C	C	33147584	T	C	33147584	5	2	118	1	0	0	0	0	0	0	1	0	3675	1594	55	4	4068	4	COL11A2	6	33147584	Splice_Site	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	2467736	33147584	137967483	75	31271											
DEFB113	245927	genome.wustl.edu	37	chr6	49937287	49937287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataacaaatattacctgatgGaccacaagacacagtgaaga	19	7	7	8	0	0	4	0	2	0	2	0	5	0	5	2	1	2	0	2	1	6	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr6:49937287G>T	ENST00000398718.1	-	1	51	c.52C>A	c.(52-54)Cca>Aca	p.P18T		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	18					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)					TTACCTGATGGACCACAAGAC	0.303																																																	0													94	92	93					6																	49937287		1829	4081	5910	SO:0001583	missense	0			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.52C>A	6.37:g.49937287G>T	ENSP00000381703:p.Pro18Thr			Missense_Mutation	SNP	NULL	p.P18T	ENST00000398718.1	37	c.52	CCDS43472.1	6	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354364	0.61293	.	.	ENSG00000214642	ENST00000398718	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	T	0.68393	0.2996	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.69650	-0.5088	6	.	.	.	-12.9235	11.7095	0.51616	0.0:0.0:1.0:0.0	.	18	Q30KQ7	DB113_HUMAN	T	18	.	.	P	-	1	0	DEFB113	50045246	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.653000	0.54446	2.214000	0.71695	0.591000	0.81541	CCA	DEFB113	-	NULL	ENSG00000214642		0.303	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB113	HGNC	protein_coding	OTTHUMT00000359666.1		0	49	0	G			49937287	-1			no_errors	ENST00000398718	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	49937287	G	T	49937287	3	4	118	1	0	0	0	0	1	0	0	0	4415	1174	41	3	196	3	DEFB113	6	49937287	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	16789703	49937287	121177780	76	31272											
BAI3	577	genome.wustl.edu	37	chr6	69640512	69640512	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcgatctgttcatgaaaaAagggtccctcaggaacaagc	13	8	9	11	1	3	1	2	1	1	0	5	3	4	2	2	2	2	1	2	2	5	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr6:69640512A>T	ENST00000370598.1	+	4	1640	c.819A>T	c.(817-819)aaA>aaT	p.K273N		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	273					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)				TTCATGAAAAAAGGGTCCCTC	0.343																																																	0													96	94	95					6																	69640512		2203	4300	6503	SO:0001583	missense	0			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.819A>T	6.37:g.69640512A>T	ENSP00000359630:p.Lys273Asn		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.K273N	ENST00000370598.1	37	c.819	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	A	15.73	2.918362	0.52546	.	.	ENSG00000135298	ENST00000370598	T	0.20738	2.05	4.93	4.93	0.64822	.	0.140991	0.47093	D	0.000242	T	0.06735	0.0172	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09292	-1.0681	10	0.49607	T	0.09	.	14.8747	0.70485	1.0:0.0:0.0:0.0	.	273	O60242	BAI3_HUMAN	N	273	ENSP00000359630:K273N	ENSP00000359630:K273N	K	+	3	2	BAI3	69697233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.854000	0.92228	1.976000	0.57569	0.477000	0.44152	AAA	BAI3	-	NULL	ENSG00000135298		0.343	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	29	0	A			69640512	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	48.57	18	17	SNP	1.000	T	T	69640512	A	T	69640512	3	4	118	1	0	0	0	0	1	0	0	0	1301	11	1	5	825	5	BAI3	6	69640512	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	19703225	69640512	101474555	77	31273											
RIMS1	22999	genome.wustl.edu	37	chr6	73043490	73043490	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gccttagtgccaaagtggttGccatagtgtctcgaaggagt	9	11	13	8	1	1	0	0	0	1	0	2	2	1	1	3	2	2	1	3	2	4	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr6:73043490G>T	ENST00000521978.1	+	29	4318	c.4318G>T	c.(4318-4320)Gcc>Tcc	p.A1440S	RIMS1_ENST00000538414.1_Missense_Mutation_p.A246S|RIMS1_ENST00000348717.5_Missense_Mutation_p.A1223S|RIMS1_ENST00000264839.7_Missense_Mutation_p.A1289S|RIMS1_ENST00000517960.1_Missense_Mutation_p.A1223S|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.A760S|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.A1263S	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1440					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)				CAAAGTGGTTGCCATAGTGTC	0.468																																																	0													73	77	75					6																	73043490		2027	4188	6215	SO:0001583	missense	0			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.4318G>T	6.37:g.73043490G>T	ENSP00000428417:p.Ala1440Ser		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.A1440S	ENST00000521978.1	37	c.4318	CCDS47449.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.5|24.5|24.5	4.533220|4.533220|4.533220	0.85812|0.85812|0.85812	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414|ENST00000517433|ENST00000522211	T;T;T;T;T;T;T;T;T|.|.	0.24151|.|.	2.12;2.54;2.24;2.53;2.16;2.33;2.36;1.89;1.87|.|.	5.57|5.57|5.57	5.57|5.57|5.57	0.84162|0.84162|0.84162	.|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000005|.|.	T|T|T	0.66187|0.66187|0.66187	0.2764|0.2764|0.2764	L|L|L	0.55481|0.55481|0.55481	1.735|1.735|1.735	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D;D|.|.	0.89917|.|.	0.997;0.995;1.0;0.993;0.997;0.997;0.994|.|.	D;D;D;D;D;D;D|.|.	0.87578|.|.	0.935;0.978;0.998;0.978;0.985;0.985;0.97|.|.	T|T|T	0.61202|0.61202|0.61202	-0.7110|-0.7110|-0.7110	10|5|5	0.45353|.|.	T|.|.	0.12|.|.	-21.2205|-21.2205|-21.2205	19.9152|19.9152|19.9152	0.97057|0.97057|0.97057	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	246;1289;760;1223;516;1263;1440|.|.	B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.|.	.;.;.;.;.;.;RIMS1_HUMAN|.|.	S|F|F	1263;1289;1263;1223;1289;1223;1440;760;605;488;246|785|357	ENSP00000430101:A1263S;ENSP00000275037:A1223S;ENSP00000264839:A1289S;ENSP00000429959:A1223S;ENSP00000428417:A1440S;ENSP00000385649:A760S;ENSP00000389503:A605S;ENSP00000359448:A488S;ENSP00000439730:A246S|.|.	ENSP00000264839:A1289S|.|.	A|C|L	+|+|+	1|2|3	0|0|2	RIMS1|RIMS1|RIMS1	73100211|73100211|73100211	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.714000|0.714000|0.714000	0.41099|0.41099|0.41099	9.813000|9.813000|9.813000	0.99286|0.99286|0.99286	2.784000|2.784000|2.784000	0.95788|0.95788|0.95788	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GCC|TGC|TTG	RIMS1	-	NULL	ENSG00000079841		0.468	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	70	0	G			73043490	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	39.34	37	24	SNP	1.000	T	T	73043490	G	T	73043490	3	4	118	1	0	0	0	0	1	0	0	0	13412	1319	46	3	4595	3	RIMS1	6	73043490	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	3402978	73043490	98071577	78	31274											
USP45	85015	genome.wustl.edu	37	chr6	99894129	99894129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcactttcagattctgaagGctcactgtcagcatcaacat	12	11	7	11	0	5	2	4	1	1	1	5	2	5	2	0	1	3	3	0	1	2	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr6:99894129G>A	ENST00000327681.6	-	14	2051	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	USP45_ENST00000539675.1_Intron|USP45_ENST00000392738.2_Missense_Mutation_p.P187S|USP45_ENST00000369233.2_Missense_Mutation_p.P459S|USP45_ENST00000500704.2_Missense_Mutation_p.P507S	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	507	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)		GATTCTGAAGGCTCACTGTCA	0.493																																																	0													88	74	79					6																	99894129		2203	4300	6503	SO:0001583	missense	0			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.1519C>T	6.37:g.99894129G>A	ENSP00000333376:p.Pro507Ser		B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.P507S	ENST00000327681.6	37	c.1519	CCDS34501.1	6	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351492	0.61183	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233	T;T;T;T	0.16073	2.37;3.87;3.87;3.84	5.71	3.94	0.45596	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.055177	0.64402	D	0.000001	T	0.04048	0.0113	N	0.17474	0.49	0.80722	D	1	B;B	0.11235	0.003;0.004	B;B	0.14023	0.01;0.009	T	0.22800	-1.0206	10	0.11182	T	0.66	.	16.4569	0.84021	0.0:0.7497:0.2503:0.0	.	507;187	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	S	187;507;507;459	ENSP00000376495:P187S;ENSP00000424372:P507S;ENSP00000333376:P507S;ENSP00000358236:P459S	ENSP00000333376:P507S	P	-	1	0	USP45	100000850	1.000000	0.71417	0.984000	0.44739	0.911000	0.54048	3.457000	0.53007	0.762000	0.33152	-0.133000	0.14855	CCT	USP45	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000123552		0.493	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP45	HGNC	protein_coding	OTTHUMT00000041609.2	-	0	38	0	G	NM_032929		99894129	-1	tier1	-	no_errors	ENST00000327681	ensembl	human	known	74_37	missense	35.71	17	10	SNP	1.000	A	A	99894129	G	A	99894129	3	1	118	1	0	0	0	0	1	0	0	0	17125	1203	42	3	945	3	USP45	6	99894129	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	26850639	99894129	71220938	79	31275											
AIM1	202	genome.wustl.edu	37	chr6	106999729	106999729	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcttttgtttcttagatGggtagcctatgaaaatcctg	9	17	9	6	0	1	2	0	1	1	1	2	2	2	2	2	1	2	3	2	1	5	7			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr6:106999729G>C	ENST00000369066.3	+	12	4578	c.4091G>C	c.(4090-4092)tGg>tCg	p.W1364S	AIM1_ENST00000535438.1_Missense_Mutation_p.W183S|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)		TTTCTTAGATGGGTAGCCTAT	0.333																																																	0													82	91	88					6																	106999729		2203	4298	6501	SO:0001583	missense	0			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.4091G>C	6.37:g.106999729G>C	ENSP00000358062:p.Trp1364Ser		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.W1364S	ENST00000369066.3	37	c.4091	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409609	0.83340	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	D;D;D	0.85629	-2.01;-2.01;-2.01	5.9	5.9	0.94986	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96120	0.9084	10	0.87932	D	0	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	183;1364	B4DU04;Q9Y4K1	.;AIM1_HUMAN	S	1364;183;183	ENSP00000358062:W1364S;ENSP00000391419:W183S;ENSP00000439183:W183S	ENSP00000358062:W1364S	W	+	2	0	AIM1	107106422	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.463000	0.97652	2.793000	0.96121	0.563000	0.77884	TGG	AIM1	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000112297		0.333	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	-	0	43	0	G			106999729	1	tier1	-	no_errors	ENST00000369066	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	C	C	106999729	G	C	106999729	3	2	118	1	0	0	0	0	1	0	0	0	430	1357	47	5	4137	5	AIM1	6	106999729	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	7105600	106999729	64115338	80	31276											
GPRC6A	222545	genome.wustl.edu	37	chr6	117113916	117113916	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagtaggtgctgcaaagaTtagccagagtgtgcaaatga	14	9	12	6	0	0	3	0	1	0	2	0	3	0	3	1	1	5	4	1	1	5	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr6:117113916T>G	ENST00000310357.3	-	6	2191	c.2170A>C	c.(2170-2172)Atc>Ctc	p.I724L	GPRC6A_ENST00000368549.3_Missense_Mutation_p.I653L|GPRC6A_ENST00000530250.1_Missense_Mutation_p.I549L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	724					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)		GCTGCAAAGATTAGCCAGAGT	0.473																																																	0													77	72	74					6																	117113916		2203	4300	6503	SO:0001583	missense	0			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.2170A>C	6.37:g.117113916T>G	ENSP00000309493:p.Ile724Leu		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.I724L	ENST00000310357.3	37	c.2170	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	T	1.346	-0.592659	0.03771	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.88046	-2.33;-2.33;-2.33	4.37	-3.12	0.05282	GPCR, family 3, C-terminal (2);	0.692519	0.12698	N	0.446581	T	0.45094	0.1325	N	0.08118	0	0.09310	N	1	B;B;B	0.13145	0.002;0.007;0.003	B;B;B	0.16289	0.008;0.015;0.015	T	0.50372	-0.8836	10	0.10902	T	0.67	.	6.8402	0.23959	0.0:0.4594:0.1442:0.3964	.	653;549;724	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	L	724;653;549	ENSP00000309493:I724L;ENSP00000357537:I653L;ENSP00000433465:I549L	ENSP00000309493:I724L	I	-	1	0	GPRC6A	117220609	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	-0.724000	0.04947	-0.346000	0.08312	-0.353000	0.07706	ATC	GPRC6A	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000173612		0.473	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	-	0	38	0	T			117113916	-1	tier1	-	no_errors	ENST00000310357	ensembl	human	known	74_37	missense	38.24	21	13	SNP	0.000	G	G	117113916	T	G	117113916	3	3	118	1	0	0	0	0	1	0	0	0	6755	1493	52	4	614	4	GPRC6A	6	117113916	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	10114187	117113916	54001151	81	31277											
PCMT1	5110	genome.wustl.edu	37	chr6	150123514	150123514	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtggtccaggtggaagtGattttatcttctgctctttc	6	16	11	8	0	3	1	0	1	3	0	5	2	4	2	1	3	1	2	1	3	2	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr6:150123514G>C	ENST00000367380.5	+	7	890	c.683G>C	c.(682-684)tGa>tCa	p.*228S	PCMT1_ENST00000544496.1_Nonstop_Mutation_p.*193S|PCMT1_ENST00000367378.1_Nonstop_Mutation_p.*286S|PCMT1_ENST00000464889.1_Nonstop_Mutation_p.*286S|PCMT1_ENST00000367384.2_Intron	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	0					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)		AGGTGGAAGTGATTTTATCTT	0.408																																																	0													96	93	94					6																	150123514		2203	4300	6503	SO:0001578	stop_lost	0				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.683G>C	6.37:g.150123514G>C	ENSP00000356350:p.*228Serext*78		A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Nonstop_Mutation	SNP	pfam_PCMT,tigrfam_PCMT	p.*286S	ENST00000367380.5	37	c.857		6	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236258	0.79800	.	.	ENSG00000120265	ENST00000367378;ENST00000464889;ENST00000367380;ENST00000544496	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2578	0.98434	0.0:0.0:1.0:0.0	.	.	.	.	S	286;286;228;193	.	.	X	+	2	2	PCMT1	150165207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.053000	0.89449	2.784000	0.95788	0.643000	0.83706	TGA	PCMT1	-	NULL	ENSG00000120265		0.408	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	PCMT1	HGNC	protein_coding		-	0	34	0	G			150123514	1	tier1	-	no_errors	ENST00000367378	ensembl	human	known	74_37	nonstop	47.62	11	10	SNP	1.000	C	C	150123514	G	C	150123514	4	2	118	1	0	0	0	0	0	0	0	0	11624	1285	45	5	883	5	PCMT1	6	150123514	Nonstop_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	33009598	150123514	20991553	82	31278											
RAET1E	135250	genome.wustl.edu	37	chr6	150209742	150209742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatgaatgcccccaggatGatccatctatctggtagact	11	10	10	10	0	2	3	0	2	2	1	3	5	3	5	3	3	1	1	3	3	3	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr6:150209742G>A	ENST00000357183.4	-	4	816	c.684C>T	c.(682-684)atC>atT	p.I228I	RAET1E_ENST00000532335.1_Intron|RAET1E_ENST00000367363.3_Silent_p.I192I|RAET1E-AS1_ENST00000446954.2_RNA|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	228					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)		CCCCCAGGATGATCCATCTAT	0.423																																																	0													97	91	93					6																	150209742		2203	4300	6503	SO:0001819	synonymous_variant	0			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.684C>T	6.37:g.150209742G>A			A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.I228	ENST00000357183.4	37	c.684	CCDS5221.1	6																																																																																			RAET1E	-	NULL	ENSG00000164520		0.423	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAET1E	HGNC	protein_coding	OTTHUMT00000042659.1	-	0	45	0	G	NM_139165		150209742	-1	tier1	-	no_errors	ENST00000357183	ensembl	human	known	74_37	silent	37.84	23	14	SNP	0.008	A	A	150209742	G	A	150209742	2	1	118	1	0	0	0	0	0	0	0	1	13044	1280	45	3		3	RAET1E	6	150209742	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	86228	150209742	20905325	83	31279											
GLI3	2737	genome.wustl.edu	37	chr7	42017206	42017206	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcgcgatcagaggcatttGagaaagccttgttgcaacct	10	10	12	9	2	1	2	1	1	0	2	1	4	1	2	2	2	3	3	2	2	2	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:42017206G>C	ENST00000395925.3	-	12	1847	c.1763C>G	c.(1762-1764)tCa>tGa	p.S588*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	588					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						AGAGGCATTTGAGAAAGCCTT	0.458									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													241	197	212					7																	42017206		2203	4300	6503	SO:0001587	stop_gained	0	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.1763C>G	7.37:g.42017206G>C	ENSP00000379258:p.Ser588*	905	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S588*	ENST00000395925.3	37	c.1763	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.781045	0.98952	.	.	ENSG00000106571	ENST00000395925	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	.	.	.	X	588	.	ENSP00000379258:S588X	S	-	2	0	GLI3	41983731	1.000000	0.71417	0.964000	0.40570	0.812000	0.45895	9.807000	0.99171	2.745000	0.94114	0.655000	0.94253	TCA	GLI3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000106571		0.458	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0	168	0	G	NM_000168		42017206	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	nonsense	26.42	142	51	SNP	1.000	C	C	42017206	G	C	42017206	4	2	118	1	0	0	0	0	0	1	0	0	6465	1294	45	5	2995	5	GLI3	7	42017206	Nonsense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09		42017206	117121457	84	31280											
NUDCD3	23386	genome.wustl.edu	37	chr7	44530051	44530051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgggcgggaagcccatgCggtccgatgggtggcgcagc	5	4	18	14	5	0	0	0	0	0	0	1	2	1	1	4	5	3	1	4	5	1	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:44530051C>A	ENST00000355451.7	-	1	428	c.149G>T	c.(148-150)cGc>cTc	p.R50L		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	50										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						GAAGCCCATGCGGTCCGATGG	0.697																																																	0													18	23	22					7																	44530051		1928	4144	6072	SO:0001583	missense	0			BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.149G>T	7.37:g.44530051C>A	ENSP00000347626:p.Arg50Leu		Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.R50L	ENST00000355451.7	37	c.149	CCDS5490.2	7	.	.	.	.	.	.	.	.	.	.	c	28.8	4.948831	0.92660	.	.	ENSG00000015676	ENST00000355451	T	0.56444	0.46	4.3	4.3	0.51218	.	0.129364	0.47455	D	0.000225	T	0.62221	0.2410	L	0.46157	1.445	0.45648	D	0.998579	D	0.61697	0.99	P	0.61800	0.894	T	0.65384	-0.6181	10	0.66056	D	0.02	-1.8662	13.9489	0.64104	0.0:1.0:0.0:0.0	.	50	Q8IVD9	NUDC3_HUMAN	L	50	ENSP00000347626:R50L	ENSP00000347626:R50L	R	-	2	0	NUDCD3	44496576	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.732000	0.47352	2.358000	0.79984	0.558000	0.71614	CGC	NUDCD3	-	NULL	ENSG00000015676		0.697	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD3	HGNC	protein_coding	OTTHUMT00000251248.3	-	0	40	0	C	NM_015332		44530051	-1	tier1	-	no_errors	ENST00000355451	ensembl	human	known	74_37	missense	65.71	12	23	SNP	1.000	A	A	44530051	C	A	44530051	3	1	118	1	0	0	0	0	1	0	0	0	10763	768	27	2	960	2	NUDCD3	7	44530051	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	2512845	44530051	114608612	85	31281											
ABCA13	154664	genome.wustl.edu	37	chr7	48391999	48391999	+	Missense_Mutation	SNP	A	A	C	1	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	aagacatgatcgaaagagccAtcattttggtgcagactggg	13	9	12	7	1	1	4	1	1	0	3	2	5	1	4	1	2	2	1	1	2	2	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:48391999A>C	ENST00000435803.1	+	31	10627	c.10603A>C	c.(10603-10605)Atc>Ctc	p.I3535L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3535					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						CGAAAGAGCCATCATTTTGGT	0.532																																																	0													32	34	33					7																	48391999		1940	4148	6088	SO:0001583	missense	0			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.10603A>C	7.37:g.48391999A>C	ENSP00000411096:p.Ile3535Leu		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I3535L	ENST00000435803.1	37	c.10603	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760773	0.49468	.	.	ENSG00000179869	ENST00000435803	D	0.85861	-2.04	4.93	3.78	0.43462	.	0.147126	0.31102	N	0.008256	D	0.89986	0.6874	M	0.69523	2.12	0.80722	D	1	P;D	0.63046	0.951;0.992	P;D	0.79108	0.802;0.992	D	0.88623	0.3164	10	0.59425	D	0.04	.	8.4532	0.32884	0.911:0.0:0.089:0.0	.	1237;3535	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	L	3535	ENSP00000411096:I3535L	ENSP00000411096:I3535L	I	+	1	0	ABCA13	48362545	1.000000	0.71417	0.949000	0.38748	0.173000	0.22820	4.869000	0.63028	0.732000	0.32470	-0.464000	0.05259	ATC	ABCA13	-	NULL	ENSG00000179869		0.532	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	32	0	A	NM_152701		48391999	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	68.75	10	22	SNP	1.000	C	C	48391999	A	C	48391999	3	2	118	1	0	0	0	0	1	0	0	0	31	217	8	4	10554	4	ABCA13	7	48391999	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	3861948	48391999	110746664	86	31282											
EIF4H	7458	genome.wustl.edu	37	chr7	73588738	73588738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggacttcgacacctacgacGatcgggcctacagcagcttc	9	7	10	15	5	0	0	0	0	0	0	3	4	0	1	2	2	4	2	2	2	2	4	rs146609826	byFrequency	TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:73588738G>C	ENST00000265753.8	+	1	164	c.25G>C	c.(25-27)Gat>Cat	p.D9H	EIF4H_ENST00000353999.6_Missense_Mutation_p.D9H	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	9					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|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)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						CACCTACGACGATCGGGCCTA	0.726																																																	0													22	21	21					7																	73588738		2202	4299	6501	SO:0001583	missense	0				CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.25G>C	7.37:g.73588738G>C	ENSP00000265753:p.Asp9His		A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D9H	ENST00000265753.8	37	c.25	CCDS5564.1	7	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535075	0.85812	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.36520	1.25;1.31	4.2	3.23	0.37069	.	0.126690	0.51477	U	0.000085	T	0.44498	0.1296	L	0.34521	1.04	0.58432	D	0.999995	P;D;D;D	0.89917	0.742;1.0;0.997;0.988	B;D;D;P	0.68353	0.211;0.94;0.957;0.839	T	0.30504	-0.9976	10	0.39692	T	0.17	0.006	12.3662	0.55230	0.0:0.1712:0.8287:0.0	.	9;9;9;9	B4DMV6;Q75MU2;Q15056-2;Q15056	.;.;.;IF4H_HUMAN	H	9	ENSP00000265753:D9H;ENSP00000265754:D9H	ENSP00000265753:D9H	D	+	1	0	EIF4H	73226674	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.397000	0.73239	2.045000	0.60652	0.462000	0.41574	GAT	EIF4H	-	NULL	ENSG00000106682		0.726	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4H	HGNC	protein_coding	OTTHUMT00000252375.2	-	0	53	0	G	NM_022170		73588738	1	tier1	-	no_errors	ENST00000265753	ensembl	human	known	74_37	missense	24.14	44	14	SNP	1.000	C	C	73588738	G	C	73588738	3	2	118	1	0	0	0	0	1	0	0	0	5055	1058	37	5	27	5	EIF4H	7	73588738	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	25196739	73588738	85549925	87	31283											
HGF	3082	genome.wustl.edu	37	chr7	81372751	81372752	+	Missense_Mutation	DNP	GC	GC	AA																															ctcggctggccatcgggattGcggcaataattatcatcaaa																										TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:81372751_81372752GC>AA	ENST00000222390.5	-	7	1008_1009	c.782_783GC>TT	c.(781-783)cGC>cTT	p.R261L	HGF_ENST00000457544.2_Missense_Mutation_p.R256L|HGF_ENST00000453411.1_Missense_Mutation_p.R256L|HGF_ENST00000444829.2_Missense_Mutation_p.R261L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	261	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CATCGGGATTGCGGCAATAATT	0.5																																																	0																																										SO:0001583	missense	0				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.782_783delinsAA	7.37:g.81372751_81372752delinsAA	ENSP00000222390:p.Arg261Leu		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent|Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R261|p.R261L	ENST00000222390.5	37	c.783|c.782	CCDS5597.1	7																																																																																			HGF	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000019991		0.5	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	-	0	46	0	G|C	NM_000601		81372751|81372752	-1	tier1	-	no_errors	ENST00000222390	ensembl	human	known	74_37	silent|missense	47.67	45	41	SNP	1.000	A	AA	81372752	GC	AA	81372751	3	1	118	1	0	0	0	0	1	0	0	0	7112	1306	46	3	1463	3	HGF	7	81372751	Missense_Mutation	DNP	GC	TCGA-LN-A4A9-01A-11D-A28B-09	7784013	81372751	77765912	88	31284											
PON2	5445	genome.wustl.edu	37	chr7	95039233	95039233	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcatcaggtgaaatattGatcccatttgctgaatcaaa	14	14	6	7	0	3	3	3	3	0	0	4	3	4	3	1	1	1	1	1	1	5	4	rs528805572		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:95039233G>C	ENST00000222572.3	-	6	921	c.675C>G	c.(673-675)atC>atG	p.I225M	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.I213M|PON2_ENST00000536183.1_Missense_Mutation_p.I246M			Q15165	PON2_HUMAN	paraoxonase 2	225					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)			GTGAAATATTGATCCCATTTG	0.348																																					GBM(42;803 823 13649 23368 31463)												0													153	153	153					7																	95039233		2203	4300	6503	SO:0001583	missense	0			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.675C>G	7.37:g.95039233G>C	ENSP00000222572:p.Ile225Met		A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2	p.I246M	ENST00000222572.3	37	c.738	CCDS5640.1	7	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812015	0.32053	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.63096	-0.02;-0.02;-0.02	4.62	4.62	0.57501	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.88377	2.95	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80025	-0.1555	10	0.87932	D	0	-7.4261	4.4598	0.11661	0.1325:0.0:0.6469:0.2206	.	225;225	A4D1H7;Q15165	.;PON2_HUMAN	M	246;223;213;225	ENSP00000440282:I246M;ENSP00000404622:I213M;ENSP00000222572:I225M	ENSP00000222572:I225M	I	-	3	3	PON2	94877169	1.000000	0.71417	0.990000	0.47175	0.209000	0.24338	1.759000	0.38420	2.568000	0.86640	0.557000	0.71058	ATC	PON2	-	pfam_Arylesterase,pfam_SGL	ENSG00000105854		0.348	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PON2	HGNC	protein_coding	OTTHUMT00000333142.1	-	0	26	0	G	NM_000305		95039233	-1	tier1	-	no_errors	ENST00000536183	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.982	C	C	95039233	G	C	95039233	3	2	118	1	0	0	0	0	1	0	0	0	12288	1280	45	5	405	5	PON2	7	95039233	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	13666482	95039233	64099430	89	31285											
ZAN	7455	genome.wustl.edu	37	chr7	100334441	100334441	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctcccccagagggcagctAtctgcatatggaatcgaaca	11	7	10	13	1	1	1	0	0	1	1	3	3	2	2	3	2	3	3	3	2	4	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:100334441A>C	ENST00000348028.3	+	0	428				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_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)			GAGGGCAGCTATCTGCATATG	0.652																																																	0													7	10	9					7																	100334441		1884	3838	5722			0			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.100334441A>C			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.Y88S	ENST00000348028.3	37	c.263		7	.	.	.	.	.	.	.	.	.	.	A	16.58	3.162590	0.57368	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.03920	3.76;3.76;3.76	4.7	3.52	0.40303	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.32068	N	0.006636	T	0.27063	0.0663	H	0.95611	3.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.967;0.981	T	0.04495	-1.0947	10	0.87932	D	0	.	8.0678	0.30672	0.8194:0.0:0.0:0.1806	.	88;88	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	88	ENSP00000445943:Y88S;ENSP00000445091:Y88S;ENSP00000444427:Y88S	ENSP00000423579:Y88S	Y	+	2	0	ZAN	100172377	0.999000	0.42202	0.987000	0.45799	0.783000	0.44284	2.302000	0.43637	0.873000	0.35799	0.459000	0.35465	TAT	ZAN	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000146839		0.652	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0	51	0	A	NM_003386		100334441	1	tier1	-	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	26.67	33	12	SNP	0.997	C	C	100334441	A	C	100334441	1	2	118	0	1	0	0	0	0	0	0	0	17562	449	16	4		4	ZAN	7	100334441	RNA	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	5295208	100334441	58804222	90	31286											
FBXL13	222235	genome.wustl.edu	37	chr7	102453968	102453968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactttagatgacattctttGagctgccttcctgtaataac	11	15	6	9	0	1	3	0	2	1	1	2	3	2	3	2	0	4	2	2	0	4	7			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:102453968G>C	ENST00000313221.4	-	20	2455	c.2029C>G	c.(2029-2031)Caa>Gaa	p.Q677E	FBXL13_ENST00000379305.3_Missense_Mutation_p.Q649E|FBXL13_ENST00000455112.2_Missense_Mutation_p.Q632E|FBXL13_ENST00000379306.3_Missense_Mutation_p.Q395E|FBXL13_ENST00000456695.1_Missense_Mutation_p.Q395E|FBXL13_ENST00000436908.1_Missense_Mutation_p.Q677E|FBXL13_ENST00000379308.3_Missense_Mutation_p.Q632E|FBXL13_ENST00000393772.2_Missense_Mutation_p.Q649E	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	677										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GACATTCTTTGAGCTGCCTTC	0.413																																																	0													239	210	220					7																	102453968		2203	4300	6503	SO:0001583	missense	0			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.2029C>G	7.37:g.102453968G>C	ENSP00000321927:p.Gln677Glu		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.Q677E	ENST00000313221.4	37	c.2029	CCDS5726.1	7	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062818	0.36373	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.33654	1.4;2.02;1.4;1.4;1.4;1.4;1.4;2.02	5.79	-6.34	0.01982	.	5.733430	0.00166	N	0.000003	T	0.14485	0.0350	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.29336	-1.0015	10	0.02654	T	1	.	3.8922	0.09123	0.0914:0.4077:0.1913:0.3097	.	632;395;649;677	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	E	649;632;395;398;649;677;677;395;632	ENSP00000377367:Q649E;ENSP00000368610:Q632E;ENSP00000368608:Q395E;ENSP00000368607:Q649E;ENSP00000388608:Q677E;ENSP00000321927:Q677E;ENSP00000409716:Q395E;ENSP00000391550:Q632E	ENSP00000321927:Q677E	Q	-	1	0	FBXL13	102241204	0.000000	0.05858	0.001000	0.08648	0.345000	0.29048	-1.008000	0.03663	-0.922000	0.03789	-0.226000	0.12346	CAA	FBXL13	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000161040		0.413	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1	-	0	165	0	G	NM_145032		102453968	-1	tier1	-	no_errors	ENST00000313221	ensembl	human	known	74_37	missense	27.51	137	52	SNP	0.000	C	C	102453968	G	C	102453968	3	2	118	1	0	0	0	0	1	0	0	0	5731	1299	45	5	182	5	FBXL13	7	102453968	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	2119527	102453968	56684695	91	31287											
ATXN7L1	222255	genome.wustl.edu	37	chr7	105254708	105254708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgttatagggaggggcCgcctgataggagttcaaagc	10	8	16	7	1	1	1	1	1	0	0	1	3	1	3	2	5	1	3	2	5	4	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:105254708C>T	ENST00000419735.3	-	10	2118	c.2073G>A	c.(2071-2073)gcG>gcA	p.A691A	ATXN7L1_ENST00000388807.4_Silent_p.A351A|ATXN7L1_ENST00000477775.1_Silent_p.A567A	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	691	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						AGGGAGGGGCCGCCTGATAGG	0.562																																																	0													48	41	43					7																	105254708		692	1591	2283	SO:0001819	synonymous_variant	0			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.2073G>A	7.37:g.105254708C>T			A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	pfam_SCA7_dom	p.A691	ENST00000419735.3	37	c.2073	CCDS47682.1	7																																																																																			ATXN7L1	-	NULL	ENSG00000146776		0.562	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	-	0	40	0	C			105254708	-1	tier1	-	no_errors	ENST00000419735	ensembl	human	known	74_37	silent	26.32	42	15	SNP	0.137	T	T	105254708	C	T	105254708	2	4	118	1	0	0	0	0	0	0	0	1	1217	639	23	1		1	ATXN7L1	7	105254708	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	2800740	105254708	53883955	92	31288											
TES	26136	genome.wustl.edu	37	chr7	115889258	115889258	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tattgacgaatccagttgctGccaagaagaatgtctccatc	12	11	8	10	1	1	3	0	1	1	2	4	4	2	3	3	0	2	2	3	0	5	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:115889258G>T	ENST00000358204.4	+	3	513	c.298G>T	c.(298-300)Gcc>Tcc	p.A100S	TES_ENST00000485009.1_3'UTR|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_Intron|TES_ENST00000393481.2_Missense_Mutation_p.A91S|AC073130.3_ENST00000444244.1_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	100	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			TCCAGTTGCTGCCAAGAAGAA	0.383																																																	0													127	119	122					7																	115889258		2203	4300	6503	SO:0001583	missense	0			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.298G>T	7.37:g.115889258G>T	ENSP00000350937:p.Ala100Ser		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A100S	ENST00000358204.4	37	c.298	CCDS5763.1	7	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889937	0.52014	.	.	ENSG00000135269	ENST00000358204;ENST00000455989;ENST00000257721;ENST00000393481	D;D;D	0.84944	-1.92;-1.92;-1.92	5.53	4.65	0.58169	PET domain (2);	0.000000	0.64402	D	0.000002	T	0.80613	0.4656	L	0.28115	0.83	0.80722	D	1	D;B	0.52996	0.957;0.095	P;B	0.52646	0.705;0.141	T	0.77370	-0.2613	10	0.02654	T	1	-15.216	14.6664	0.68910	0.0699:0.0:0.9301:0.0	.	100;100	B7Z5L5;Q9UGI8	.;TES_HUMAN	S	100;15;100;91	ENSP00000350937:A100S;ENSP00000413002:A15S;ENSP00000377121:A91S	ENSP00000257721:A100S	A	+	1	0	TES	115676494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.001000	0.57046	1.473000	0.48159	0.650000	0.86243	GCC	TES	-	pfam_PET_domain	ENSG00000135269		0.383	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	HGNC	protein_coding	OTTHUMT00000059413.2	-	0	51	0	G	NM_015641		115889258	1	tier1	-	no_errors	ENST00000358204	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	115889258	G	T	115889258	3	4	118	1	0	0	0	0	1	0	0	0	15812	1319	46	3	308	3	TES	7	115889258	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	10634550	115889258	43249405	93	31289											
PODXL	5420	genome.wustl.edu	37	chr7	131195718	131195718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacaggatgcgtcgaagtgGgttgtcgggggctaagtgga	8	8	18	7	3	0	0	0	0	0	0	2	3	0	2	1	5	1	2	1	5	2	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:131195718G>A	ENST00000378555.3	-	2	822	c.575C>T	c.(574-576)cCc>cTc	p.P192L	PODXL_ENST00000537928.1_Missense_Mutation_p.P192L|PODXL_ENST00000322985.9_Missense_Mutation_p.P192L|PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000541194.1_Missense_Mutation_p.P194L			O00592	PODXL_HUMAN	podocalyxin-like	192	Thr-rich.				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)					CGTCGAAGTGGGTTGTCGGGG	0.547																																																	0													221	191	202					7																	131195718		2203	4300	6503	SO:0001583	missense	0				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.575C>T	7.37:g.131195718G>A	ENSP00000367817:p.Pro192Leu		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.P194L	ENST00000378555.3	37	c.581	CCDS34755.1	7	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366317	0.41902	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.16743	2.9;2.32;2.9;2.51	3.06	-0.0158	0.13974	.	25.699300	0.00166	N	0.000003	T	0.11580	0.0282	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.16603	0.018;0.01	B;B	0.14023	0.01;0.005	T	0.31364	-0.9946	10	0.72032	D	0.01	-2.311	2.2106	0.03946	0.3152:0.0:0.4387:0.2461	.	192;192	O00592-2;O00592	.;PODXL_HUMAN	L	194;192;182;192;192	ENSP00000440518:P194L;ENSP00000442655:P192L;ENSP00000367817:P192L;ENSP00000319782:P192L	ENSP00000319782:P192L	P	-	2	0	PODXL	130846258	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.510000	0.02262	-0.021000	0.14009	0.561000	0.74099	CCC	PODXL	-	pirsf_Podocalyxin-like_p1	ENSG00000128567		0.547	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	HGNC	protein_coding	OTTHUMT00000337627.2	-	0	176	0	G	NM_001018111		131195718	-1	tier1	-	no_errors	ENST00000541194	ensembl	human	known	74_37	missense	15.35	171	31	SNP	0.000	A	A	131195718	G	A	131195718	3	1	118	1	0	0	0	0	1	0	0	0	12219	1232	43	3	1133	3	PODXL	7	131195718	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	15306460	131195718	27942945	94	31290											
JHDM1D	80853	genome.wustl.edu	37	chr7	139791832	139791832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtaccctctgactaatttCtgatgaaccttcctttctga	8	17	5	11	0	3	4	0	4	3	0	4	4	4	4	3	0	2	1	3	0	3	6			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:139791832C>G	ENST00000397560.2	-	19	2600	c.2503G>C	c.(2503-2505)Gaa>Caa	p.E835Q	Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		835					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)					TGACTAATTTCTGATGAACCT	0.428																																																	0													137	117	124					7																	139791832		1897	4129	6026	SO:0001583	missense	0																														ENST00000397560.2:c.2503G>C	7.37:g.139791832C>G	ENSP00000380692:p.Glu835Gln		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.E835Q	ENST00000397560.2	37	c.2503	CCDS43658.1	7	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353536	0.61293	.	.	ENSG00000006459	ENST00000397560	T	0.13778	2.56	5.9	5.9	0.94986	.	0.505809	0.22406	N	0.060471	T	0.16085	0.0387	L	0.46157	1.445	0.80722	D	1	B	0.27229	0.172	B	0.21917	0.037	T	0.02031	-1.1226	10	0.37606	T	0.19	-26.2024	18.4436	0.90676	0.0:1.0:0.0:0.0	.	835	Q6ZMT4	KDM7_HUMAN	Q	835	ENSP00000380692:E835Q	ENSP00000380692:E835Q	E	-	1	0	JHDM1D	139438301	1.000000	0.71417	0.854000	0.33618	0.990000	0.78478	5.674000	0.68117	2.788000	0.95919	0.655000	0.94253	GAA	JHDM1D	-	NULL	ENSG00000006459		0.428	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JHDM1D	HGNC	protein_coding	OTTHUMT00000348460.1	-	0	100	0	C			139791832	-1	tier1	-	no_errors	ENST00000397560	ensembl	human	known	74_37	missense	29.13	89	37	SNP	0.994	G	G	139791832	C	G	139791832	3	3	118	1	0	0	0	0	1	0	0	0	7975	922	32	5	330	5	JHDM1D	7	139791832	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	8596114	139791832	19346831	95	31291											
AGK	55750	genome.wustl.edu	37	chr7	141301071	141301071	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatctggcatggatgtgacTattgttaaggtaagaatggc	11	14	12	4	0	1	2	0	1	1	1	1	3	1	3	0	4	0	3	0	4	5	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:141301071T>A	ENST00000355413.4	+	5	548	c.288T>A	c.(286-288)acT>acA	p.T96T	AGK_ENST00000473247.1_Silent_p.T68T|AGK_ENST00000535825.1_Silent_p.T93T	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	96	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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)					TGGATGTGACTATTGTTAAGG	0.358																																																	0													83	84	83					7																	141301071		2203	4299	6502	SO:0001819	synonymous_variant	0			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.288T>A	7.37:g.141301071T>A			Q75KN1|Q96GC3|Q9NP48	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.T96	ENST00000355413.4	37	c.288	CCDS5865.1	7																																																																																			AGK	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000006530		0.358	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGK	HGNC	protein_coding	OTTHUMT00000348969.1	-	0	29	0	T	NM_018238		141301071	1	tier1	-	no_errors	ENST00000355413	ensembl	human	known	74_37	silent	26.42	39	14	SNP	0.293	A	A	141301071	T	A	141301071	2	1	118	1	0	0	0	0	0	0	0	1	383	1509	53	5		5	AGK	7	141301071	Silent	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	1509239	141301071	17837592	96	31292											
TRYX3	136541	genome.wustl.edu	37	chr7	141952041	141952041	+	Nonstop_Mutation	SNP	T	T	A	0	1	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	tggtccacaactgccacagcTcagttattttggattacatt	10	14	7	10	0	1	0	1	0	0	0	2	1	2	1	2	2	4	2	2	2	3	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:141952041T>A	ENST00000552471.1	-	5	1045	c.726A>T	c.(724-726)tgA>tgT	p.*242C	PRSS58_ENST00000547058.2_Nonstop_Mutation_p.*242C			Q8IYP2	PRS58_HUMAN	protease, serine, 58	0						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CTGCCACAGCTCAGTTATTTT	0.398																																																	0													67	80	76					7																	141952041		2203	4300	6503	SO:0001578	stop_lost	0				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.726A>T	7.37:g.141952041T>A			B3KVJ6|D3DXD2	Nonstop_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.*242C	ENST00000552471.1	37	c.726	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372746	0.42003	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.981	0.47494	0.0:0.0:0.0:1.0	.	.	.	.	C	242	.	.	X	-	3	0	PRSS58	141598519	1.000000	0.71417	0.963000	0.40424	0.044000	0.14063	4.731000	0.62022	2.082000	0.62665	0.533000	0.62120	TGA	PRSS58	-	NULL	ENSG00000258223		0.398	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2	-	0	28	0	T	NM_001001317		141952041	-1	tier1	-	no_errors	ENST00000547058	ensembl	human	known	74_37	nonstop	53.85	12	14	SNP	1.000	A	A	141952041	T	A	141952041	4	1	118	1	0	0	0	0	0	0	0	0	16652	1564	54	5	3	5	TRYX3	7	141952041	Nonstop_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	650970	141952041	17186622	97	31293											
ZNF467	168544	genome.wustl.edu	37	chr7	149462695	149462695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcactgtgcgcactggtagGgcctctcgcccgtatggatg	5	9	14	13	4	1	0	0	0	1	0	2	1	1	1	2	3	1	4	2	3	2	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr7:149462695G>A	ENST00000302017.3	-	5	1309	c.896C>T	c.(895-897)cCc>cTc	p.P299L	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	299					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(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCACTGGTAGGGCCTCTCGCC	0.667																																																	0													30	20	23					7																	149462695		2201	4299	6500	SO:0001583	missense	0			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.896C>T	7.37:g.149462695G>A	ENSP00000304769:p.Pro299Leu			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P299L	ENST00000302017.3	37	c.896	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883732	0.72410	.	.	ENSG00000181444	ENST00000302017	T	0.17054	2.3	4.25	4.25	0.50352	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32719	U	0.005723	T	0.43122	0.1233	M	0.74258	2.255	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.49351	-0.8949	10	0.87932	D	0	-25.4067	16.2993	0.82801	0.0:0.0:1.0:0.0	.	299	Q7Z7K2	ZN467_HUMAN	L	299	ENSP00000304769:P299L	ENSP00000304769:P299L	P	-	2	0	ZNF467	149093628	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.419000	0.66435	1.925000	0.55765	0.456000	0.33151	CCC	ZNF467	-	pfscan_Znf_C2H2	ENSG00000181444		0.667	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	HGNC	protein_coding	OTTHUMT00000349833.1	-	0	72	0	G	NM_207336		149462695	-1	tier1	-	no_errors	ENST00000302017	ensembl	human	known	74_37	missense	20.25	63	16	SNP	1.000	A	A	149462695	G	A	149462695	3	1	118	1	0	0	0	0	1	0	0	0	17975	1232	43	3	895	3	ZNF467	7	149462695	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	7510654	149462695	9675968	98	31294											
MLL3	58508	genome.wustl.edu	37	chr7	151962290	151962290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcacagtttgcatcttcCttcgctataattaacagtga	11	14	6	10	1	1	1	0	1	1	0	3	1	2	1	1	0	3	4	1	0	3	6			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	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	0			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	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K339N	ENST00000262189.6	37	c.1017	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	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	KMT2C	-	superfamily_Znf_FYVE_PHD	ENSG00000055609		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	37	0	C			151962290	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	15.52	49	9	SNP	1.000	G	G	151962290	C	G	151962290	3	3	118	1	0	0	0	0	1	0	0	0	9660	680	24	5	13926	5	MLL3	7	151962290	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	2499595	151962290	7176373	99	31295											
MYOM2	9172	genome.wustl.edu	37	chr8	2020437	2020437	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgtgcagtgcccctgtcatCgatgattccgtacacgcact	7	11	9	14	3	1	1	1	1	0	0	3	2	2	1	3	0	3	3	3	0	1	2	rs202106832	byFrequency	TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr8:2020437C>G	ENST00000262113.4	+	9	947	c.806C>G	c.(805-807)tCg>tGg	p.S269W	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	269	Ig-like C2-type 2.				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)		CCCCTGTCATCGATGATTCCG	0.577																																																	0													100	83	88					8																	2020437		2203	4300	6503	SO:0001583	missense	0				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.806C>G	8.37:g.2020437C>G	ENSP00000262113:p.Ser269Trp		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S269W	ENST00000262113.4	37	c.806	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	C	8.323	0.824652	0.16678	.	.	ENSG00000036448	ENST00000262113	T	0.54071	0.59	5.13	3.34	0.38264	Immunoglobulin-like (1);	0.463601	0.21168	N	0.079030	T	0.43765	0.1262	L	0.50333	1.59	0.09310	N	0.999999	P	0.51933	0.949	B	0.43889	0.435	T	0.32025	-0.9922	10	0.38643	T	0.18	.	5.2624	0.15582	0.1541:0.6093:0.0:0.2366	.	269	P54296	MYOM2_HUMAN	W	269	ENSP00000262113:S269W	ENSP00000262113:S269W	S	+	2	0	MYOM2	2007844	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	2.039000	0.41193	0.556000	0.29098	0.655000	0.94253	TCG	MYOM2	-	pfscan_Ig-like_dom	ENSG00000036448		0.577	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	-	0	85	0	C	NM_003970		2020437	1	tier1	-	no_errors	ENST00000262113	ensembl	human	known	74_37	missense	44.68	52	42	SNP	0.000	G	G	2020437	C	G	2020437	3	3	118	1	0	0	0	0	1	0	0	0	10130	893	31	5	836	5	MYOM2	8	2020437	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09		2020437	144343585	100	31296											
ZNF395	55893	genome.wustl.edu	37	chr8	28206685	28206685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagaagtgacgatcagatGagatttcatcgcaggtgctg	11	10	14	6	2	2	4	2	2	0	3	3	7	2	4	0	2	1	2	0	2	1	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr8:28206685G>A	ENST00000344423.5	-	9	1518	c.1387C>T	c.(1387-1389)Cat>Tat	p.H463Y	ZNF395_ENST00000523202.1_Missense_Mutation_p.H463Y|ZNF395_ENST00000523095.1_Missense_Mutation_p.H463Y	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	463					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)		ACGATCAGATGAGATTTCATC	0.632																																																	0													108	113	111					8																	28206685		2203	4300	6503	SO:0001583	missense	0			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.1387C>T	8.37:g.28206685G>A	ENSP00000340494:p.His463Tyr		B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.H463Y	ENST00000344423.5	37	c.1387	CCDS6067.1	8	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357366	0.82243	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.49139	0.79;0.79;0.79	5.11	5.11	0.69529	.	0.309106	0.38897	N	0.001525	T	0.64560	0.2609	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.62955	0.909	T	0.67201	-0.5730	10	0.66056	D	0.02	-25.4268	13.9073	0.63843	0.0:0.0:1.0:0.0	.	463	Q9H8N7	ZN395_HUMAN	Y	463	ENSP00000340494:H463Y;ENSP00000429640:H463Y;ENSP00000428452:H463Y	ENSP00000340494:H463Y	H	-	1	0	ZNF395	28262604	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.100000	0.71473	2.665000	0.90641	0.655000	0.94253	CAT	ZNF395	-	NULL	ENSG00000186918		0.632	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF395	HGNC	protein_coding	OTTHUMT00000219976.1	-	0	27	0	G			28206685	-1	tier1	-	no_errors	ENST00000344423	ensembl	human	known	74_37	missense	53.57	13	15	SNP	1.000	A	A	28206685	G	A	28206685	3	1	118	1	0	0	0	0	1	0	0	0	17929	1290	45	3	162	3	ZNF395	8	28206685	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	26186248	28206685	118157337	101	31297											
MYST3	7994	genome.wustl.edu	37	chr8	41806773	41806773	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattattctttctgtaaatCtcattggcaggaggatggaa	12	15	9	5	0	3	0	1	0	3	0	4	3	3	3	0	4	0	2	0	4	5	6			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr8:41806773C>T	ENST00000396930.3	-	11	2250	c.1707G>A	c.(1705-1707)gaG>gaA	p.E569E	KAT6A_ENST00000406337.1_Silent_p.E569E|KAT6A_ENST00000265713.2_Silent_p.E569E|KAT6A_ENST00000485568.1_Silent_p.E569E	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	569	Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				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)										TTCTGTAAATCTCATTGGCAG	0.343																																																	0													61	49	53					8																	41806773		2195	4288	6483	SO:0001819	synonymous_variant	0			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.1707G>A	8.37:g.41806773C>T			Q76L81	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E569	ENST00000396930.3	37	c.1707	CCDS6124.1	8																																																																																			KAT6A	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase	ENSG00000083168		0.343	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	-	0	56	0	C	NM_006766		41806773	-1	tier1	-	no_errors	ENST00000265713	ensembl	human	known	74_37	silent	29.51	43	18	SNP	1.000	T	T	41806773	C	T	41806773	2	4	118	1	0	0	0	0	0	0	0	1	10142	912	32	3		3	MYST3	8	41806773	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	13600088	41806773	104557249	102	31298											
ST18	9705	genome.wustl.edu	37	chr8	53084980	53084980	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgccactgtcatttaaattTtcacttacagtctgaacaga	13	14	5	9	0	3	2	2	1	1	1	3	2	3	2	1	0	3	0	1	0	4	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr8:53084980T>C	ENST00000276480.7	-	10	1124	c.441A>G	c.(439-441)gaA>gaG	p.E147E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	147					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)				CATTTAAATTTTCACTTACAG	0.383																																																	0													93	92	92					8																	53084980		2203	4300	6503	SO:0001819	synonymous_variant	0			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.441A>G	8.37:g.53084980T>C			Q17RY1	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E147	ENST00000276480.7	37	c.441	CCDS6149.1	8																																																																																			ST18	-	NULL	ENSG00000147488		0.383	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	-	0	40	0	T			53084980	-1	tier1	-	no_errors	ENST00000276480	ensembl	human	known	74_37	silent	36.36	41	24	SNP	0.963	C	C	53084980	T	C	53084980	2	2	118	1	0	0	0	0	0	0	0	1	15259	1838	64	4		4	ST18	8	53084980	Silent	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	11278207	53084980	93279042	103	31299											
GGH	8836	genome.wustl.edu	37	chr8	63948274	63948274	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttacataggacgcagcaatAtagtatcttccatagttttt	12	16	6	7	1	1	0	0	0	1	0	2	1	2	1	1	1	2	4	1	1	7	10			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr8:63948274A>G	ENST00000260118.6	-	2	567	c.165T>C	c.(163-165)taT>taC	p.Y55Y		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	55	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)	ACGCAGCAATATAGTATCTTC	0.308																																																	0													108	105	106					8																	63948274		2203	4300	6503	SO:0001819	synonymous_variant	0			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.165T>C	8.37:g.63948274A>G				Silent	SNP	pfam_Peptidase_C26,pfam_GATASE	p.Y55	ENST00000260118.6	37	c.165	CCDS6177.1	8																																																																																			GGH	-	pfam_Peptidase_C26	ENSG00000137563		0.308	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGH	HGNC	protein_coding	OTTHUMT00000378453.1	-	0	25	0	A			63948274	-1	tier1	-	no_errors	ENST00000260118	ensembl	human	known	74_37	silent	56.36	24	31	SNP	1.000	G	G	63948274	A	G	63948274	2	3	118	1	0	0	0	0	0	0	0	1	6383	456	16	4		4	GGH	8	63948274	Silent	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	10863294	63948274	82415748	104	31300											
PDP1	54704	genome.wustl.edu	37	chr8	94935557	94935557	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatgggttgtgggagactAtgcataggcaggatgtggtt	8	12	17	4	0	0	2	0	1	0	1	0	4	0	3	0	5	1	4	0	5	2	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr8:94935557A>G	ENST00000297598.4	+	2	1539	c.1270A>G	c.(1270-1272)Atg>Gtg	p.M424V	PDP1_ENST00000517764.1_Missense_Mutation_p.M424V|PDP1_ENST00000396200.3_Missense_Mutation_p.M449V|PDP1_ENST00000520728.1_Missense_Mutation_p.M424V	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	424					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						GTGGGAGACTATGCATAGGCA	0.502																																																	0													106	101	103					8																	94935557		2203	4300	6503	SO:0001583	missense	0			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.1270A>G	8.37:g.94935557A>G	ENSP00000297598:p.Met424Val		B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.M449V	ENST00000297598.4	37	c.1345	CCDS6259.1	8	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613066	0.28712	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	6.03	6.03	0.97812	Protein phosphatase 2C-like (5);	0.042441	0.85682	D	0.000000	T	0.14399	0.0348	N	0.25380	0.74	0.58432	D	0.999994	B;B	0.28178	0.202;0.202	B;B	0.33960	0.173;0.173	T	0.05257	-1.0896	10	0.59425	D	0.04	-21.3364	16.5582	0.84512	1.0:0.0:0.0:0.0	.	475;424	B4DYX8;Q9P0J1	.;PDP1_HUMAN	V	424;424;449;424	ENSP00000297598:M424V;ENSP00000428317:M424V;ENSP00000379503:M449V;ENSP00000430380:M424V	ENSP00000297598:M424V	M	+	1	0	PDP1	95004733	1.000000	0.71417	0.985000	0.45067	0.999000	0.98932	4.563000	0.60823	2.308000	0.77769	0.533000	0.62120	ATG	PDP1	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000164951		0.502	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2	-	0	161	0	A	NM_018444		94935557	1	tier1	-	no_errors	ENST00000396200	ensembl	human	known	74_37	missense	21.33	225	61	SNP	0.998	G	G	94935557	A	G	94935557	3	3	118	1	0	0	0	0	1	0	0	0	11724	449	16	4	1453	4	PDP1	8	94935557	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	30987283	94935557	51428465	105	31301											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110376784	110376784	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatttttcagatggctctCaaataatccccaaagtcaca	15	12	4	10	0	3	1	3	0	1	1	5	1	4	1	2	1	0	1	2	1	5	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr8:110376784C>A	ENST00000378402.5	+	2	186	c.82C>A	c.(82-84)Caa>Aaa	p.Q28K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	28					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)			AGATGGCTCTCAAATAATCCC	0.343										HNSCC(38;0.096)																																							0													51	47	49					8																	110376784		1806	4067	5873	SO:0001583	missense	0			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.82C>A	8.37:g.110376784C>A	ENSP00000367655:p.Gln28Lys		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.Q28K	ENST00000378402.5	37	c.82	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	0.280	-0.986712	0.02180	.	.	ENSG00000205038	ENST00000378402	D	0.84873	-1.91	4.95	-0.583	0.11706	Immunoglobulin-like fold (1);	0.669254	0.13220	N	0.404445	T	0.58047	0.2095	N	0.03608	-0.345	0.22896	N	0.998596	B	0.02656	0.0	B	0.01281	0.0	T	0.50617	-0.8807	10	0.05620	T	0.96	.	4.429	0.11518	0.4739:0.1769:0.3491:0.0	.	28	Q86WI1	PKHL1_HUMAN	K	28	ENSP00000367655:Q28K	ENSP00000367655:Q28K	Q	+	1	0	PKHD1L1	110445960	0.825000	0.29262	0.952000	0.39060	0.736000	0.42039	0.552000	0.23376	-0.246000	0.09611	-0.234000	0.12200	CAA	PKHD1L1	-	NULL	ENSG00000205038		0.343	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	76	0	C	NM_177531		110376784	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	17.09	97	20	SNP	0.962	A	A	110376784	C	A	110376784	3	1	118	1	0	0	0	0	1	0	0	0	12011	827	29	3	88	3	PKHD1L1	8	110376784	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	15441227	110376784	35987238	106	31302											
TNFRSF11B	4982	genome.wustl.edu	37	chr8	119945474	119945474	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgagaggtttcttcGtcataatgaaggtactttgg	10	14	12	5	1	2	3	1	3	1	1	3	4	2	3	0	3	2	3	0	3	3	5	rs4876870	byFrequency	TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr8:119945474G>A	ENST00000297350.4	-	2	474	c.96C>T	c.(94-96)gaC>gaT	p.D32D		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	32					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			AGGTTTCTTCGTCATAATGAA	0.468													g|||	3	0.000599042	8e-04	0	5008	,	,		22584	0		0.001	False		,,,				2504	0.001																0								A		0,4406		0,0,2203	249	234	239		96	2.4	0.9	8	dbSNP_111	239	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNFRSF11B	NM_002546.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		32/402	119945474	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"Tumor necrosis factor receptor superfamily"	11909	protein-coding gene	gene with protein product		602643	"osteoprotegerin"	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.96C>T	8.37:g.119945474G>A			B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg	p.D32	ENST00000297350.4	37	c.96	CCDS6326.1	8																																																																																			TNFRSF11B	-	pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11B	ENSG00000164761		0.468	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11B	HGNC	protein_coding	OTTHUMT00000381220.1	-	0	49	0	G			119945474	-1	tier1	rs4876870	no_errors	ENST00000297350	ensembl	human	known	74_37	silent	17.97	105	23	SNP	1.000	A	A	119945474	G	A	119945474	2	1	118	1	0	0	0	0	0	0	0	1	16332	1136	40	1		1	TNFRSF11B	8	119945474	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	9568690	119945474	26418548	107	31303											
TAF2	6873	genome.wustl.edu	37	chr8	120795769	120795769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcaacaacatctctctcaTagcggagctgatactgccac	11	9	8	13	1	2	1	1	1	2	0	4	2	2	2	1	1	7	2	1	1	4	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr8:120795769T>C	ENST00000378164.2	-	16	2262	c.1964A>G	c.(1963-1965)tAt>tGt	p.Y655C		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	655					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATCTCTCTCATAGCGGAGCTG	0.433																																																	0													103	98	100					8																	120795769		2203	4300	6503	SO:0001583	missense	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1964A>G	8.37:g.120795769T>C	ENSP00000367406:p.Tyr655Cys		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.Y655C	ENST00000378164.2	37	c.1964	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	T	25.5	4.648409	0.87958	.	.	ENSG00000064313	ENST00000378164	T	0.48522	0.81	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.68644	-0.5354	10	0.66056	D	0.02	-33.8218	16.6407	0.85098	0.0:0.0:0.0:1.0	.	655	Q6P1X5	TAF2_HUMAN	C	655	ENSP00000367406:Y655C	ENSP00000367406:Y655C	Y	-	2	0	TAF2	120864950	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.057000	0.64294	2.326000	0.78906	0.533000	0.62120	TAT	TAF2	-	NULL	ENSG00000064313		0.433	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	-	0	33	0	T	NM_003184		120795769	-1	tier1	-	no_errors	ENST00000378164	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	C	C	120795769	T	C	120795769	3	2	118	1	0	0	0	0	1	0	0	0	15571	1406	49	4	1679	4	TAF2	8	120795769	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	850295	120795769	25568253	108	31304											
KIAA0196	9897	genome.wustl.edu	37	chr8	126071704	126071704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaatgttaatggttctgatCatttgatgaagaaactttcg	12	17	8	4	1	2	4	1	3	1	1	3	4	2	4	0	1	1	2	0	1	4	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr8:126071704C>T	ENST00000318410.7	-	13	1951	c.1602G>A	c.(1600-1602)atG>atA	p.M534I	KIAA0196_ENST00000517845.1_Missense_Mutation_p.M386I	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	534					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGGTTCTGATCATTTGATGAA	0.408																																																	0													90	89	89					8																	126071704		2203	4300	6503	SO:0001583	missense	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1602G>A	8.37:g.126071704C>T	ENSP00000318016:p.Met534Ile		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.M534I	ENST00000318410.7	37	c.1602	CCDS6355.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.293669	0.95546	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.88741	-2.42;-2.42	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.87456	2.885	0.80722	D	1	D;P	0.89917	1.0;0.705	D;P	0.87578	0.998;0.785	D	0.95424	0.8510	10	0.72032	D	0.01	-33.1849	20.1271	0.97986	0.0:1.0:0.0:0.0	.	386;534	E7EQI7;Q12768	.;STRUM_HUMAN	I	534;386	ENSP00000318016:M534I;ENSP00000429676:M386I	ENSP00000318016:M534I	M	-	3	0	KIAA0196	126140886	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.743000	0.85020	2.834000	0.97654	0.650000	0.86243	ATG	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.408	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1		0	15	0	C	NM_014846		126071704	-1			no_errors	ENST00000318410	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	T	T	126071704	C	T	126071704	3	4	118	1	0	0	0	0	1	0	0	0	8188	826	29	3	1945	3	KIAA0196	8	126071704	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	5275935	126071704	20292318	109	31305											
PTP4A3	11156	genome.wustl.edu	37	chr8	142437153	142437153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgtggctgtgcactgcGtggcgggcctgggccggtga	2	8	20	11	4	0	1	0	1	0	0	0	1	0	1	2	5	3	3	2	5	0	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr8:142437153G>T	ENST00000521578.1	+	4	1258	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000329397.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000349124.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000520105.1_Missense_Mutation_p.V105L			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	105	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TGTGCACTGCGTGGCGGGCCT	0.682																																																	0													55	66	62					8																	142437153		2203	4297	6500	SO:0001583	missense	0			AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.313G>T	8.37:g.142437153G>T	ENSP00000428976:p.Val105Leu		Q8IVN5|Q99849|Q9BTW5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.V105L	ENST00000521578.1	37	c.313	CCDS6383.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.407505	0.96051	.	.	ENSG00000184489	ENST00000521578;ENST00000520105;ENST00000329397;ENST00000349124	D;T;D;T	0.82893	-1.66;0.7;-1.66;0.7	5.27	5.27	0.74061	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92254	0.7543	M	0.86343	2.81	0.80722	D	1	D;P	0.76494	0.999;0.461	D;P	0.79784	0.993;0.519	D	0.93335	0.6704	10	0.87932	D	0	-4.1849	17.8229	0.88655	0.0:0.0:1.0:0.0	.	105;105	O75365-2;O75365	.;TP4A3_HUMAN	L	105	ENSP00000428976:V105L;ENSP00000428758:V105L;ENSP00000332274:V105L;ENSP00000331730:V105L	ENSP00000332274:V105L	V	+	1	0	PTP4A3	142506335	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	9.712000	0.98738	2.619000	0.88677	0.561000	0.74099	GTG	PTP4A3	-	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	ENSG00000184489		0.682	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTP4A3	HGNC	protein_coding	OTTHUMT00000378977.1	-	0	197	0	G	NM_032611		142437153	1	tier1	-	no_errors	ENST00000329397	ensembl	human	known	74_37	missense	60.98	112	175	SNP	1.000	T	T	142437153	G	T	142437153	3	4	118	1	0	0	0	0	1	0	0	0	12815	1145	40	2	323	2	PTP4A3	8	142437153	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	16365449	142437153	3926869	110	31306											
TIGD5	84948	genome.wustl.edu	37	chr8	144680307	144680307	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcggcaggccagtgtgtgCcgcgacttcggcgtgccggg	4	6	19	12	6	0	0	0	0	0	0	1	2	0	0	3	4	3	1	3	4	0	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr8:144680307C>G	ENST00000504548.2	+	1	234	c.234C>G	c.(232-234)tgC>tgG	p.C78W	EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000423316.2_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.C29W|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	78	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					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)			CCAGTGTGTGCCGCGACTTCG	0.697																																																	0													10	11	11					8																	144680307		2140	4222	6362	SO:0001583	missense	0			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.234C>G	8.37:g.144680307C>G	ENSP00000421489:p.Cys78Trp		E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.C78W	ENST00000504548.2	37	c.234	CCDS6406.2	8	.	.	.	.	.	.	.	.	.	.	c	14.77	2.634835	0.47049	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.42131	0.98;0.98	4.01	4.01	0.46588	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.149105	0.31290	U	0.007919	T	0.40932	0.1137	N	0.08118	0	0.34163	D	0.668922	D	0.76494	0.999	D	0.68943	0.961	T	0.58962	-0.7543	10	0.87932	D	0	.	11.2646	0.49104	0.0:0.8143:0.1857:0.0	.	29	Q53EQ6	TIGD5_HUMAN	W	78;29	ENSP00000421489:C78W;ENSP00000315906:C29W	ENSP00000315906:C29W	C	+	3	2	TIGD5	144751450	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	2.517000	0.45529	1.779000	0.52309	0.165000	0.16767	TGC	TIGD5	-	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	ENSG00000179886		0.697	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD5	HGNC	protein_coding	OTTHUMT00000368269.1	-	0	9	0	C	NM_032862		144680307	1	tier1	-	no_errors	ENST00000504548	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	G	G	144680307	C	G	144680307	3	3	118	1	0	0	0	0	1	0	0	0	15946	747	26	5	236	5	TIGD5	8	144680307	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	2243154	144680307	1683715	111	31307											
INSL6	11172	genome.wustl.edu	37	chr9	5185534	5185534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcactgctgatgtcgctCagttcacgagaaaaccgaac	11	8	10	12	3	2	2	2	1	0	1	3	4	2	2	1	1	3	4	1	1	3	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr9:5185534C>T	ENST00000381641.3	-	1	134	c.69G>A	c.(67-69)ctG>ctA	p.L23L		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	23					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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		TGATGTCGCTCAGTTCACGAG	0.582																																																	0													46	43	44					9																	5185534		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"relaxin/insulin-like factor 1"	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.69G>A	9.37:g.5185534C>T			A0AVS0|Q9NS16	Silent	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6	p.L23	ENST00000381641.3	37	c.69	CCDS6458.1	9																																																																																			INSL6	-	superfamily_Insulin-like,pirsf_Insulin-like_pep_6	ENSG00000120210		0.582	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSL6	HGNC	protein_coding	OTTHUMT00000051608.3	-	0	29	0	C	NM_007179		5185534	-1	tier1	-	no_errors	ENST00000381641	ensembl	human	known	74_37	silent	28.57	20	8	SNP	0.009	T	T	5185534	C	T	5185534	2	4	118	1	0	0	0	0	0	0	0	1	7797	813	29	3		3	INSL6	9	5185534	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09		5185534	136027897	112	31308											
MLLT3	4300	genome.wustl.edu	37	chr9	20413721	20413721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtaagaactactcacatCagatttagaggatatattct	15	12	6	8	0	3	3	2	0	1	3	3	4	3	4	1	1	2	1	1	1	6	7			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr9:20413721C>T	ENST00000380338.4	-	5	1409	c.1123G>A	c.(1123-1125)Gat>Aat	p.D375N	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000429426.2_Missense_Mutation_p.D372N	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	375		KMT2A/MLL1 fusion point (in acute myeloid leukemia patient CO).			anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTACTCACATCAGATTTAGAG	0.358			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	0													98	88	91					9																	20413721		2203	4300	6503	SO:0001583	missense	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.1123G>A	9.37:g.20413721C>T	ENSP00000369695:p.Asp375Asn		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.D375N	ENST00000380338.4	37	c.1123	CCDS6494.1	9	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713806	0.68730	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.95	5.95	0.96441	.	0.203920	0.49305	D	0.000143	T	0.49779	0.1577	N	0.22421	0.69	0.80722	D	1	P;P	0.37525	0.598;0.598	B;B	0.37346	0.247;0.247	T	0.51980	-0.8636	9	0.56958	D	0.05	-8.9355	20.3802	0.98930	0.0:1.0:0.0:0.0	.	372;375	B7Z755;P42568	.;AF9_HUMAN	N	375;372;414	.	ENSP00000369695:D375N	D	-	1	0	MLLT3	20403721	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.656000	0.83736	2.822000	0.97130	0.563000	0.77884	GAT	MLLT3	-	NULL	ENSG00000171843		0.358	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	-	0	80	0	C	NM_004529		20413721	-1	tier1	-	no_errors	ENST00000380338	ensembl	human	known	74_37	missense	65.52	20	38	SNP	1.000	T	T	20413721	C	T	20413721	3	4	118	1	0	0	0	0	1	0	0	0	9666	826	29	3	611	3	MLLT3	9	20413721	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	15228187	20413721	120799710	113	31309											
VCP	7415	genome.wustl.edu	37	chr9	35067938	35067938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattccgaacaactctattCatccgaatcttctcatcaga	12	14	3	12	2	5	1	3	0	3	1	8	3	7	1	2	0	2	0	2	0	5	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr9:35067938C>T	ENST00000358901.6	-	3	1147	c.252G>A	c.(250-252)atG>atA	p.M84I		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	84					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)			CAACTCTATTCATCCGAATCT	0.478																																																	0													152	126	135					9																	35067938		2203	4300	6503	SO:0001583	missense	0			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.252G>A	9.37:g.35067938C>T	ENSP00000351777:p.Met84Ile		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.M84I	ENST00000358901.6	37	c.252	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836996	0.50951	.	.	ENSG00000165280	ENST00000358901;ENST00000448530;ENST00000417448	D;D;D	0.82344	-1.6;-1.6;-1.6	5.73	5.73	0.89815	ATPase, AAA-type, VAT, N-terminal (1);Aspartate decarboxylase-like fold (2);	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	N	0.21373	0.66	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.68119	-0.5493	10	0.09590	T	0.72	-16.7921	19.8966	0.96963	0.0:1.0:0.0:0.0	.	84	P55072	TERA_HUMAN	I	84;39;39	ENSP00000351777:M84I;ENSP00000392088:M39I;ENSP00000399456:M39I	ENSP00000351777:M84I	M	-	3	0	VCP	35057938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.703000	0.84585	2.700000	0.92200	0.655000	0.94253	ATG	VCP	-	pfam_CDC4_N-term_subdom,superfamily_Asp_de-COase-like_dom,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.478	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	-	0	54	0	C	NM_007126		35067938	-1	tier1	-	no_errors	ENST00000358901	ensembl	human	known	74_37	missense	32.35	46	22	SNP	1.000	T	T	35067938	C	T	35067938	3	4	118	1	0	0	0	0	1	0	0	0	17189	826	29	3	2228	3	VCP	9	35067938	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	14654217	35067938	106145493	114	31310											
FANCC	2176	genome.wustl.edu	37	chr9	97869387	97869387	+	Silent	SNP	A	A	T	1	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	gcgatcgtgtggcctccaggAgcccagagcaggaagttgag	9	6	16	10	2	0	2	0	1	0	1	2	5	1	4	3	3	2	2	3	3	1	1	rs76895298	byFrequency	TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr9:97869387A>T	ENST00000289081.3	-	14	1748	c.1494T>A	c.(1492-1494)gcT>gcA	p.A498A	FANCC_ENST00000375305.1_Silent_p.A498A	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	498					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GGCCTCCAGGAGCCCAGAGCA	0.582			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	0													218	180	193					9																	97869387		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1494T>A	9.37:g.97869387A>T			B1ALR8	Silent	SNP	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.A498	ENST00000289081.3	37	c.1494	CCDS35071.1	9																																																																																			FANCC	-	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	ENSG00000158169		0.582	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	HGNC	protein_coding	OTTHUMT00000053219.1	-	0	94	0	A	NM_000136		97869387	-1	tier1	-	no_errors	ENST00000289081	ensembl	human	known	74_37	silent	30.30	92	40	SNP	0.912	T	T	97869387	A	T	97869387	2	4	118	1	0	0	0	0	0	0	0	1	5686	291	11	5		5	FANCC	9	97869387	Silent	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	62801449	97869387	43344044	115	31311											
PALM2	114299	genome.wustl.edu	37	chr9	112705216	112705216	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	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	tcaagcttaggaggagggcaCgtgtctgaaaggactgtgat	11	9	15	6	1	2	2	1	2	1	0	2	5	2	5	0	4	1	2	0	4	3	1	rs148645046		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr9:112705216C>G	ENST00000374531.2	+	7	725	c.651C>G	c.(649-651)caC>caG	p.H217Q	PALM2_ENST00000314527.4_Missense_Mutation_p.H249Q|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000448454.2_Missense_Mutation_p.H251Q|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.H215Q|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	217					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						GAGGAGGGCACGTGTCTGAAA	0.463																																																	0													87	76	80					9																	112705216		2203	4300	6503	SO:0001583	missense	0			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.651C>G	9.37:g.112705216C>G	ENSP00000363656:p.His217Gln		A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	pfam_Paralemmin	p.H251Q	ENST00000374531.2	37	c.753	CCDS35099.1	9	.	.	.	.	.	.	.	.	.	.	C	2.545	-0.305345	0.05495	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.21734	1.99;2.0;1.99;2.0;2.0	6.17	-2.18	0.07037	.	.	.	.	.	T	0.05777	0.0151	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.40040	-0.9584	9	0.08179	T	0.78	.	1.7925	0.03054	0.1265:0.1849:0.2484:0.4402	.	217;251	Q8IXS6;D3YTA4	PALM2_HUMAN;.	Q	217;251;215;249;249	ENSP00000363656:H217Q;ENSP00000400206:H251Q;ENSP00000417525:H215Q;ENSP00000323805:H249Q;ENSP00000397839:H249Q	ENSP00000397839:H249Q	H	+	3	2	PALM2-AKAP2;PALM2	111745037	0.008000	0.16893	0.003000	0.11579	0.805000	0.45488	0.075000	0.14686	-0.025000	0.13918	0.655000	0.94253	CAC	PALM2	-	pfam_Paralemmin	ENSG00000243444		0.463	PALM2-002	KNOWN	basic|CCDS	protein_coding	PALM2	HGNC	protein_coding	OTTHUMT00000053604.1	-	0	25	0	C	NM_001037293		112705216	1	tier1	-	no_errors	ENST00000448454	ensembl	human	known	74_37	missense	88.10	5	37	SNP	0.004	G	G	112705216	C	G	112705216	3	3	118	1	0	0	0	0	1	0	0	0	11448	535	19	5	783	5	PALM2	9	112705216	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	14835829	112705216	28508215	116	31312											
TLR4	7099	genome.wustl.edu	37	chr9	120475807	120475807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctttcaatggcatcttCaatggcttgtccagtctcga	7	15	9	10	1	4	0	2	0	2	0	6	1	5	0	1	2	1	4	1	2	2	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr9:120475807C>A	ENST00000355622.6	+	3	1502	c.1401C>A	c.(1399-1401)ttC>ttA	p.F467L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.F427L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	467					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ATGGCATCTTCAATGGCTTGT	0.408																																																	0													99	101	100					9																	120475807		2203	4300	6503	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1401C>A	9.37:g.120475807C>A	ENSP00000363089:p.Phe467Leu		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.F467L	ENST00000355622.6	37	c.1401	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883956	0.33255	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.67698	-0.28;-0.28	5.92	-0.756	0.11057	.	0.000000	0.64402	D	0.000001	T	0.66867	0.2833	L	0.28054	0.825	0.37441	D	0.914438	D	0.89917	1.0	D	0.81914	0.995	T	0.67345	-0.5694	10	0.48119	T	0.1	.	11.2992	0.49295	0.0:0.4634:0.0:0.5366	.	467	O00206	TLR4_HUMAN	L	427;467	ENSP00000377997:F427L;ENSP00000363089:F467L	ENSP00000363089:F467L	F	+	3	2	TLR4	119515628	0.001000	0.12720	0.091000	0.20842	0.004000	0.04260	-0.240000	0.08952	-0.063000	0.13065	-1.000000	0.02509	TTC	TLR4	-	pirsf_Toll-like_receptor	ENSG00000136869		0.408	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	-	0	38	0	C	NM_138554		120475807	1	tier1	-	no_errors	ENST00000355622	ensembl	human	known	74_37	missense	80.39	10	41	SNP	0.049	A	A	120475807	C	A	120475807	3	1	118	1	0	0	0	0	1	0	0	0	16000	825	29	3	1411	3	TLR4	9	120475807	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	7770591	120475807	20737624	117	31313											
TTC16	158248	genome.wustl.edu	37	chr9	130478440	130478440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcatgacagattcggacGaggtgcgggcttgggagaag	9	7	17	8	3	1	3	1	1	0	2	2	6	1	4	1	4	1	1	1	4	1	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr9:130478440G>A	ENST00000373289.3	+	1	96	c.16G>A	c.(16-18)Gag>Aag	p.E6K	PTRH1_ENST00000419060.1_5'UTR|PTRH1_ENST00000429848.1_5'UTR|PTRH1_ENST00000423807.1_5'Flank|TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000543175.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	6										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGATTCGGACGAGGTGCGGGC	0.652																																																	0													81	87	85					9																	130478440		2203	4300	6503	SO:0001583	missense	0			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.16G>A	9.37:g.130478440G>A	ENSP00000362386:p.Glu6Lys		B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E6K	ENST00000373289.3	37	c.16	CCDS6875.1	9	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469834	0.26423	.	.	ENSG00000167094	ENST00000373289	T	0.18174	2.23	3.55	-2.17	0.07059	.	0.385573	0.19079	N	0.123285	T	0.07683	0.0193	N	0.17082	0.46	0.30323	N	0.787444	B;B	0.25169	0.119;0.119	B;B	0.17979	0.02;0.02	T	0.11941	-1.0567	10	0.45353	T	0.12	-22.0649	5.6204	0.17453	0.2178:0.49:0.2922:0.0	.	6;6	B4DZ42;Q8NEE8	.;TTC16_HUMAN	K	6	ENSP00000362386:E6K	ENSP00000362386:E6K	E	+	1	0	TTC16	129518261	0.004000	0.15560	0.003000	0.11579	0.015000	0.08874	-0.150000	0.10189	-0.449000	0.07117	-0.448000	0.05591	GAG	TTC16	-	NULL	ENSG00000167094		0.652	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC16	HGNC	protein_coding	OTTHUMT00000054224.1	-	0	69	0	G	NM_144965		130478440	1	tier1	-	no_errors	ENST00000373289	ensembl	human	known	74_37	missense	26.61	79	29	SNP	0.003	A	A	130478440	G	A	130478440	3	1	118	1	0	0	0	0	1	0	0	0	16732	1059	37	1	18	1	TTC16	9	130478440	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	10002633	130478440	10734991	118	31314											
FBXW5	54461	genome.wustl.edu	37	chr9	139837916	139837916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctccacgcagggcaccGtgtcatacagccgctggaac	9	5	11	16	3	1	0	1	0	0	0	2	1	2	1	4	2	3	4	4	2	2	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr9:139837916G>A	ENST00000325285.3	-	3	315	c.236C>T	c.(235-237)aCg>aTg	p.T79M	C8G_ENST00000224181.3_5'Flank|FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	79					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCAGGGCACCGTGTCATACAG	0.647																																																	0													65	46	53					9																	139837916		2200	4299	6499	SO:0001583	missense	0			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.236C>T	9.37:g.139837916G>A	ENSP00000313034:p.Thr79Met		B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T79M	ENST00000325285.3	37	c.236	CCDS7014.1	9	.	.	.	.	.	.	.	.	.	.	g	13.17	2.157444	0.38119	.	.	ENSG00000159069	ENST00000325285;ENST00000428398;ENST00000443788	T;T;D	0.83673	-0.21;1.54;-1.75	4.85	-4.33	0.03677	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);F-box domain, Skp2-like (1);	0.697292	0.15088	N	0.281260	T	0.69788	0.3150	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.52358	-0.8586	10	0.45353	T	0.12	-13.5982	8.5827	0.33640	0.1708:0.3217:0.5075:0.0	.	79	Q969U6	FBXW5_HUMAN	M	79	ENSP00000313034:T79M;ENSP00000404829:T79M;ENSP00000394011:T79M	ENSP00000313034:T79M	T	-	2	0	FBXW5	138957737	0.340000	0.24792	0.000000	0.03702	0.972000	0.66771	0.904000	0.28491	-1.251000	0.02494	-0.471000	0.05019	ACG	FBXW5	-	superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom	ENSG00000159069		0.647	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	HGNC	protein_coding	OTTHUMT00000055227.1	-	0	65	0	G	NM_018998		139837916	-1	tier1	-	no_errors	ENST00000325285	ensembl	human	known	74_37	missense	29.33	53	22	SNP	0.000	A	A	139837916	G	A	139837916	3	1	118	1	0	0	0	0	1	0	0	0	5790	1145	40	1	1492	1	FBXW5	9	139837916	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	9359476	139837916	1375515	119	31315											
PAPSS2	9060	genome.wustl.edu	37	chr10	89487163	89487163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagggtagctatcttacgaGacgctgaattctatgaacac	12	10	11	8	2	2	3	0	2	2	1	2	5	2	4	0	2	3	3	0	2	6	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr10:89487163G>A	ENST00000361175.4	+	8	1357	c.988G>A	c.(988-990)Gac>Aac	p.D330N	PAPSS2_ENST00000427144.2_Missense_Mutation_p.D334N|PAPSS2_ENST00000456849.1_Missense_Mutation_p.D335N	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	330					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)		TATCTTACGAGACGCTGAATT	0.498																																																	0													119	96	103					10																	89487163		2203	4300	6503	SO:0001583	missense	0			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.988G>A	10.37:g.89487163G>A	ENSP00000354436:p.Asp330Asn		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.D335N	ENST00000361175.4	37	c.1003	CCDS7385.1	10	.	.	.	.	.	.	.	.	.	.	G	4.349	0.064158	0.08388	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.21932	1.98;1.98;1.98	5.74	4.81	0.61882	Sulphate adenylyltransferase (2);PUA-like domain (1);	0.088582	0.85682	N	0.000000	T	0.08133	0.0203	N	0.03999	-0.3	0.45852	D	0.998714	B;B	0.09022	0.0;0.002	B;B	0.15052	0.004;0.012	T	0.14615	-1.0466	10	0.06757	T	0.87	-27.8331	8.4902	0.33095	0.2429:0.0:0.7571:0.0	.	330;335	O95340;O95340-2	PAPS2_HUMAN;.	N	330;335;334;334	ENSP00000354436:D330N;ENSP00000406157:D335N;ENSP00000397123:D334N	ENSP00000354436:D330N	D	+	1	0	PAPSS2	89477143	1.000000	0.71417	0.216000	0.23742	0.294000	0.27393	4.164000	0.58190	1.355000	0.45865	0.561000	0.74099	GAC	PAPSS2	-	pfam_Sulfurylase_cat_dom,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase	ENSG00000198682		0.498	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	-	0	28	0	G			89487163	1	tier1	-	no_errors	ENST00000456849	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.943	A	A	89487163	G	A	89487163	3	1	118	1	0	0	0	0	1	0	0	0	11474	942	33	3	1037	3	PAPSS2	10	89487163	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09		89487163	46047584	120	31316											
EXOC6	54536	genome.wustl.edu	37	chr10	94694131	94694131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtaaccagggcatacactGatgaactttggaacatggcc	13	9	10	9	0	0	2	0	2	0	0	0	3	0	3	2	3	4	2	2	3	5	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr10:94694131G>A	ENST00000260762.6	+	11	1098	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	EXOC6_ENST00000371552.4_Missense_Mutation_p.D357N|EXOC6_ENST00000443748.2_Intron|EXOC6_ENST00000371547.4_Missense_Mutation_p.D378N	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	362					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GGCATACACTGATGAACTTTG	0.343																																																	0													102	99	100					10																	94694131		2203	4300	6503	SO:0001583	missense	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1084G>A	10.37:g.94694131G>A	ENSP00000260762:p.Asp362Asn		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.D378N	ENST00000260762.6	37	c.1132	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755804	0.69648	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000260762	T;T;T	0.31247	1.5;1.5;1.5	5.38	5.38	0.77491	.	0.149441	0.64402	D	0.000015	T	0.45736	0.1357	L	0.53671	1.685	0.80722	D	1	P;P;B;B	0.48503	0.911;0.507;0.032;0.108	P;B;B;B	0.58780	0.845;0.211;0.064;0.102	T	0.35001	-0.9806	10	0.59425	D	0.04	-9.9098	12.4773	0.55821	0.0766:0.0:0.9234:0.0	.	378;354;362;357	F2Z2Q3;B4DEZ1;Q8TAG9;E9PHI3	.;.;EXOC6_HUMAN;.	N	378;357;362	ENSP00000360602:D378N;ENSP00000360607:D357N;ENSP00000260762:D362N	ENSP00000260762:D362N	D	+	1	0	EXOC6	94684111	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.914000	0.87478	2.516000	0.84829	0.460000	0.39030	GAT	EXOC6	-	pirsf_Sec15	ENSG00000138190		0.343	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	-	0	31	0	G	NM_019053		94694131	1	tier1	-	no_errors	ENST00000371547	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	A	A	94694131	G	A	94694131	3	1	118	1	0	0	0	0	1	0	0	0	5324	1290	45	3	1216	3	EXOC6	10	94694131	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	5206968	94694131	40840616	121	31317											
TAF5	6877	genome.wustl.edu	37	chr10	105127805	105127805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctagagcctgagggacCgccaacgctgctacctccgc	9	5	11	16	3	0	2	0	1	0	1	1	3	1	3	5	1	5	3	5	1	4	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr10:105127805C>A	ENST00000369839.3	+	1	82	c.59C>A	c.(58-60)cCg>cAg	p.P20Q	TAF5_ENST00000351396.4_Missense_Mutation_p.P20Q	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	20					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCTGAGGGACCGCCAACGCTG	0.706																																																	0													4	6	5					10																	105127805		1412	2527	3939	SO:0001583	missense	0			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.59C>A	10.37:g.105127805C>A	ENSP00000358854:p.Pro20Gln		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P20Q	ENST00000369839.3	37	c.59	CCDS7547.1	10	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371767	0.61624	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.60672	0.44;0.17	4.33	4.33	0.51752	.	0.388401	0.21481	N	0.073836	T	0.53110	0.1776	N	0.04508	-0.205	0.41931	D	0.990563	D;D	0.76494	0.999;0.998	D;D	0.75020	0.985;0.965	T	0.55360	-0.8153	10	0.22109	T	0.4	-6.6677	15.1393	0.72599	0.0:1.0:0.0:0.0	.	20;20	Q15542-2;Q15542	.;TAF5_HUMAN	Q	20	ENSP00000358854:P20Q;ENSP00000311024:P20Q	ENSP00000311024:P20Q	P	+	2	0	TAF5	105117795	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.533000	0.45667	2.380000	0.81148	0.491000	0.48974	CCG	TAF5	-	NULL	ENSG00000148835		0.706	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5	HGNC	protein_coding	OTTHUMT00000050144.1	-	0	20	0	C			105127805	1	tier1	-	no_errors	ENST00000369839	ensembl	human	known	74_37	missense	73.68	10	28	SNP	1.000	A	A	105127805	C	A	105127805	3	1	118	1	0	0	0	0	1	0	0	0	15575	652	23	2	61	2	TAF5	10	105127805	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	10433674	105127805	30406942	122	31318											
SORCS1	114815	genome.wustl.edu	37	chr10	108439039	108439039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggtgttccctgcatctGaagagacaaacatgctgatg	11	10	10	10	0	1	3	0	2	1	1	3	4	3	3	2	1	3	3	2	1	2	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr10:108439039G>A	ENST00000263054.6	-	12	1722	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	SORCS1_ENST00000344440.6_Missense_Mutation_p.S572L|SORCS1_ENST00000369698.1_Missense_Mutation_p.S107L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	572					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)		CCCTGCATCTGAAGAGACAAA	0.403																																																	0													98	99	99					10																	108439039		2203	4300	6503	SO:0001583	missense	0			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.1715C>T	10.37:g.108439039G>A	ENSP00000263054:p.Ser572Leu		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.S572L	ENST00000263054.6	37	c.1715	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.228791	0.95173	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.54479	0.57;0.57;0.57	5.81	5.81	0.92471	VPS10 (1);	0.126310	0.56097	D	0.000038	T	0.78578	0.4305	M	0.88377	2.95	0.58432	D	0.999997	D;D;D;D;D	0.71674	0.997;0.998;0.998;0.997;0.998	D;D;D;D;D	0.76071	0.96;0.987;0.987;0.971;0.987	T	0.80609	-0.1306	9	.	.	.	-11.6056	20.0833	0.97789	0.0:0.0:1.0:0.0	.	572;572;572;572;572	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	L	107;572;572	ENSP00000358712:S107L;ENSP00000263054:S572L;ENSP00000345964:S572L	.	S	-	2	0	SORCS1	108429029	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.756000	0.94617	0.655000	0.94253	TCA	SORCS1	-	smart_VPS10	ENSG00000108018		0.403	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4		0	16	0	G	NM_052918		108439039	-1			no_errors	ENST00000344440	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	A	A	108439039	G	A	108439039	3	1	118	1	0	0	0	0	1	0	0	0	14975	1294	45	3	2085	3	SORCS1	10	108439039	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	3311234	108439039	27095708	123	31319											
NHLRC2	374354	genome.wustl.edu	37	chr10	115618346	115618346	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaggatctatgtggaaaaAtagtcgtccttgatttcttc	12	14	8	7	1	2	1	0	1	2	0	5	3	3	3	1	2	0	0	1	2	5	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr10:115618346A>G	ENST00000369301.3	+	2	450	c.238A>G	c.(238-240)Ata>Gta	p.I80V		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	80	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.									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)		ATGTGGAAAAATAGTCGTCCT	0.343																																																	0													160	149	153					10																	115618346		2203	4300	6503	SO:0001583	missense	0			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.238A>G	10.37:g.115618346A>G	ENSP00000358307:p.Ile80Val		Q8N1H1|Q8N5A6	Missense_Mutation	SNP	pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr	p.I80V	ENST00000369301.3	37	c.238	CCDS7585.1	10	.	.	.	.	.	.	.	.	.	.	A	3.716	-0.058588	0.07317	.	.	ENSG00000196865	ENST00000369301	T	0.79653	-1.29	5.67	4.76	0.60689	Thioredoxin-like fold (3);	0.132015	0.51477	N	0.000097	T	0.52645	0.1747	N	0.02120	-0.675	0.32594	N	0.526743	B	0.02656	0.0	B	0.01281	0.0	T	0.53258	-0.8464	10	0.02654	T	1	-8.3684	12.1907	0.54270	0.0802:0.0:0.9198:0.0	.	80	Q8NBF2	NHLC2_HUMAN	V	80	ENSP00000358307:I80V	ENSP00000358307:I80V	I	+	1	0	NHLRC2	115608336	1.000000	0.71417	0.996000	0.52242	0.804000	0.45430	6.160000	0.71862	1.359000	0.45940	-0.462000	0.05337	ATA	NHLRC2	-	superfamily_Thioredoxin-like_fold	ENSG00000196865		0.343	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC2	HGNC	protein_coding	OTTHUMT00000050446.1	-	0	69	0	A	NM_198514		115618346	1	tier1	-	no_errors	ENST00000369301	ensembl	human	known	74_37	missense	39.71	41	27	SNP	1.000	G	G	115618346	A	G	115618346	3	3	118	1	0	0	0	0	1	0	0	0	10445	101	4	4	244	4	NHLRC2	10	115618346	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	7179307	115618346	19916401	124	31320											
KRTAP5-1	387264	genome.wustl.edu	37	chr11	1606186	1606186	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcccccacaggagccacaAccccccttggatcccccaca	10	3	7	21	0	0	0	0	0	0	0	1	3	1	2	8	2	3	0	8	2	1	1	rs137999496		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:1606186A>G	ENST00000382171.2	-	1	327	c.294T>C	c.(292-294)ggT>ggC	p.G98G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	98	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGCCACAACCCCCCTTGG	0.677																																																	0													35	51	46					11																	1606186		2176	4272	6448	SO:0001819	synonymous_variant	0			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.294T>C	11.37:g.1606186A>G				Silent	SNP	NULL	p.G98	ENST00000382171.2	37	c.294	CCDS31330.1	11																																																																																			KRTAP5-1	-	NULL	ENSG00000205869		0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-1	HGNC	protein_coding	OTTHUMT00000127922.1		0	64	0	A	NM_001005922		1606186	-1			no_errors	ENST00000382171	ensembl	human	known	74_37	silent	33.93	37	19	SNP	1.000	G	G	1606186	A	G	1606186	2	3	118	1	0	0	0	0	0	0	0	1	8586	30	2	4		4	KRTAP5-1	11	1606186	Silent	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09		1606186	133400330	125	31321			1	31		2	2	13	N	T_A	9.109096e-05
KRTAP5-1	387264	genome.wustl.edu	37	chr11	1606198	1606198	+	Silent	SNP	T	T	G	0	1	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	gagccacaaccccccttggaTcccccacaagagccacagcc	11	3	7	20	0	0	1	0	0	0	1	1	3	1	2	8	1	4	0	8	1	2	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:1606198T>G	ENST00000382171.2	-	1	315	c.282A>C	c.(280-282)ggA>ggC	p.G94G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	94	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)		CCCCCTTGGATCCCCCACAAG	0.677																																																	0													34	50	45					11																	1606198		2195	4285	6480	SO:0001819	synonymous_variant	0			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.282A>C	11.37:g.1606198T>G				Silent	SNP	NULL	p.G94	ENST00000382171.2	37	c.282	CCDS31330.1	11																																																																																			KRTAP5-1	-	NULL	ENSG00000205869		0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-1	HGNC	protein_coding	OTTHUMT00000127922.1	-	0	58	0	T	NM_001005922		1606198	-1	tier1	-	no_errors	ENST00000382171	ensembl	human	known	74_37	silent	35.59	38	21	SNP	0.006	G	G	1606198	T	G	1606198	2	3	118	1	0	0	0	0	0	0	0	1	8586	1422	50	4		4	KRTAP5-1	11	1606198	Silent	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	12	1606198	133400318	126	31322			1	31		2	2	13	N	T_A	9.109096e-05
CARS	833	genome.wustl.edu	37	chr11	3050660	3050660	+	Missense_Mutation	SNP	T	T	A	0	1	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	cagagagcaaatccttggctTcttccagcaacacctgaaga	13	8	8	12	0	1	3	0	1	1	2	3	4	3	3	3	1	3	3	3	1	3	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:3050660T>A	ENST00000397111.5	-	7	811	c.566A>T	c.(565-567)gAa>gTa	p.E189V	CARS_ENST00000401769.3_Missense_Mutation_p.E202V|CARS_ENST00000278224.9_Missense_Mutation_p.E189V|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397114.3_Missense_Mutation_p.E179V|CARS_ENST00000380525.4_Missense_Mutation_p.E272V			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	189					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		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;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATCCTTGGCTTCTTCCAGCAA	0.517			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													64	66	65					11																	3050660		2202	4298	6500	SO:0001583	missense	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.566A>T	11.37:g.3050660T>A	ENSP00000380300:p.Glu189Val		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.E272V	ENST00000397111.5	37	c.815	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	T	11.99	1.802386	0.31869	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.46451	0.87;0.88;0.88;0.88;0.87	3.9	2.74	0.32292	.	0.314311	0.34652	N	0.003795	T	0.46367	0.1389	M	0.64997	1.995	0.53005	D	0.999965	B;B;P;P;B;P	0.45474	0.038;0.122;0.774;0.83;0.152;0.859	B;B;P;P;B;P	0.49597	0.063;0.068;0.616;0.481;0.152;0.616	T	0.30268	-0.9984	10	0.35671	T	0.21	-21.6558	9.4426	0.38677	0.0:0.0:0.3454:0.6546	.	202;272;189;189;272;179	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	V	272;189;189;179;202	ENSP00000369897:E272V;ENSP00000380300:E189V;ENSP00000278224:E189V;ENSP00000380303:E179V;ENSP00000384069:E202V	ENSP00000278224:E189V	E	-	2	0	CARS	3007236	1.000000	0.71417	0.819000	0.32651	0.181000	0.23173	3.374000	0.52402	0.530000	0.28619	0.454000	0.30748	GAA	CARS	-	pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	ENSG00000110619		0.517	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	-	0	28	0	T	NM_001751		3050660	-1	tier1	-	no_errors	ENST00000380525	ensembl	human	known	74_37	missense	72.50	11	29	SNP	0.984	A	A	3050660	T	A	3050660	3	1	118	1	0	0	0	0	1	0	0	0	2664	1783	62	5	1752	5	CARS	11	3050660	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	1444462	3050660	131955856	127	31323											
GTF2H1	2965	genome.wustl.edu	37	chr11	18361125	18361125	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttaggctgatgtccggccCcaaactgatggctgtaacgg	8	11	12	10	2	0	2	0	2	0	0	1	2	1	2	3	4	2	3	3	4	3	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:18361125C>G	ENST00000265963.4	+	5	688	c.528C>G	c.(526-528)ccC>ccG	p.P176P	GTF2H1_ENST00000524753.4_5'UTR|GTF2H1_ENST00000534641.1_Silent_p.P60P|GTF2H1_ENST00000453096.2_Silent_p.P176P	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	176					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						ATGTCCGGCCCCAAACTGATG	0.438								Nucleotide excision repair (NER)																																									0													140	127	132					11																	18361125		2199	4293	6492	SO:0001819	synonymous_variant	0				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.528C>G	11.37:g.18361125C>G			B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD	p.P176	ENST00000265963.4	37	c.528	CCDS7838.1	11																																																																																			GTF2H1	-	NULL	ENSG00000110768		0.438	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H1	HGNC	protein_coding	OTTHUMT00000395627.2	-	0	84	0	C	NM_005316		18361125	1	tier1	-	no_errors	ENST00000265963	ensembl	human	known	74_37	silent	31.15	42	19	SNP	0.993	G	G	18361125	C	G	18361125	2	3	118	1	0	0	0	0	0	0	0	1	6887	610	22	5		5	GTF2H1	11	18361125	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	15310465	18361125	116645391	128	31324											
CAPRIN1	4076	genome.wustl.edu	37	chr11	34118131	34118131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccacgtagcaatcagccctAttacaatagtcgtggtgtgt	10	12	9	10	2	1	0	1	0	0	0	3	0	2	0	2	1	3	2	2	1	6	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:34118131A>G	ENST00000341394.4	+	16	2000	c.1811A>G	c.(1810-1812)tAt>tGt	p.Y604C	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.Y604C|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.Y523C|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.Y604C|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.Y604C	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	604					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)				AATCAGCCCTATTACAATAGT	0.522																																																	0													106	104	105					11																	34118131		2202	4298	6500	SO:0001583	missense	0			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.1811A>G	11.37:g.34118131A>G	ENSP00000340329:p.Tyr604Cys		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	pfam_Caprin-1_C	p.Y604C	ENST00000341394.4	37	c.1811	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	A	19.68	3.871970	0.72180	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	6.06	6.06	0.98353	.	0.050149	0.85682	D	0.000000	T	0.38401	0.1039	L	0.43152	1.355	0.45979	D	0.99879	D;D	0.71674	0.998;0.997	P;P	0.62491	0.903;0.843	T	0.08493	-1.0719	10	0.42905	T	0.14	-5.1886	11.6593	0.51337	0.8677:0.0:0.0:0.1323	.	604;604	Q14444;Q14444-2	CAPR1_HUMAN;.	C	604;604;604;604;523	ENSP00000340329:Y604C;ENSP00000374296:Y604C;ENSP00000434150:Y604C;ENSP00000434204:Y604C;ENSP00000431581:Y523C	ENSP00000340329:Y604C	Y	+	2	0	CAPRIN1	34074707	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.523000	0.73787	2.324000	0.78689	0.533000	0.62120	TAT	CAPRIN1	-	pfam_Caprin-1_C	ENSG00000135387		0.522	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	-	0	41	0	A	NM_005898		34118131	1	tier1	-	no_errors	ENST00000341394	ensembl	human	known	74_37	missense	48.00	26	24	SNP	1.000	G	G	34118131	A	G	34118131	3	3	118	1	0	0	0	0	1	0	0	0	2642	449	16	4	1869	4	CAPRIN1	11	34118131	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	15757006	34118131	100888385	129	31325											
EHD1	10938	genome.wustl.edu	37	chr11	64622896	64622896	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccagctctttctttttGctctctttaccaaagacatt	8	18	3	12	0	4	1	1	0	3	1	5	1	4	1	2	0	3	2	2	0	2	7			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:64622896G>C	ENST00000320631.3	-	4	1232	c.978C>G	c.(976-978)agC>agG	p.S326R	EHD1_ENST00000488711.1_5'Flank|EHD1_ENST00000359393.2_Missense_Mutation_p.S326R	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	326					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTTTCTTTTTGCTCTCTTTAC	0.547											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													156	143	147					11																	64622896		2201	4297	6498	SO:0001583	missense	0			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.978C>G	11.37:g.64622896G>C	ENSP00000320516:p.Ser326Arg	1078	O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.S326R	ENST00000320631.3	37	c.978	CCDS8084.1	11	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428552	0.43122	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803	T;T;T;T	0.43688	2.25;2.25;0.94;1.54	4.63	3.69	0.42338	.	0.295322	0.40302	N	0.001140	T	0.32704	0.0838	L	0.46885	1.475	0.50813	D	0.999891	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.002	T	0.25606	-1.0127	10	0.52906	T	0.07	.	7.3636	0.26760	0.1924:0.0:0.8076:0.0	.	326;326	B2R5U3;Q9H4M9	.;EHD1_HUMAN	R	326;326;302;340;190;340	ENSP00000320516:S326R;ENSP00000352354:S326R;ENSP00000391429:S190R;ENSP00000404944:S340R	ENSP00000320516:S326R	S	-	3	2	EHD1	64379472	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.610000	0.46325	2.420000	0.82092	0.561000	0.74099	AGC	EHD1	-	superfamily_P-loop_NTPase	ENSG00000110047		0.547	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	-	0	38	0	G	NM_006795		64622896	-1	tier1	-	no_errors	ENST00000320631	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	C	C	64622896	G	C	64622896	3	2	118	1	0	0	0	0	1	0	0	0	4991	1310	46	5	634	5	EHD1	11	64622896	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	30504765	64622896	70383620	130	31326											
DEFB108B	245911	genome.wustl.edu	37	chr11	71544281	71544281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctcttcgccattttcttCtttatgagccaagttctacc	6	17	4	14	1	4	1	0	1	4	0	6	1	5	1	4	0	2	1	4	0	3	8			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:71544281C>G	ENST00000328698.1	+	1	36	c.36C>G	c.(34-36)ttC>ttG	p.F12L		NM_001002035.1	NP_001002035.1	Q8NET1	D108B_HUMAN	defensin, beta 108B	12					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CCATTTTCTTCTTTATGAGCC	0.413																																																	0													17	16	16					11																	71544281		2155	4232	6387	SO:0001583	missense	0			AF529416	CCDS31631.1	11q13.4	2011-03-29			ENSG00000184276	ENSG00000184276		"Defensins, beta"	29966	protein-coding gene	gene with protein product							Standard	NM_001002035		Approved		uc010rqr.2	Q8NET1	OTTHUMG00000167533	ENST00000328698.1:c.36C>G	11.37:g.71544281C>G	ENSP00000333234:p.Phe12Leu			Missense_Mutation	SNP	NULL	p.F12L	ENST00000328698.1	37	c.36	CCDS31631.1	11	.	.	.	.	.	.	.	.	.	.	.	11.47	1.649574	0.29336	.	.	ENSG00000184276	ENST00000328698	T	0.11821	2.74	1.33	0.346	0.16017	.	.	.	.	.	T	0.17831	0.0428	.	.	.	0.09310	N	0.999998	P	0.46578	0.88	P	0.50270	0.636	T	0.13495	-1.0507	8	0.87932	D	0	.	5.3799	0.16186	0.0:0.6384:0.3616:0.0	.	12	Q8NET1	D108B_HUMAN	L	12	ENSP00000333234:F12L	ENSP00000333234:F12L	F	+	3	2	DEFB108B	71221929	0.255000	0.24002	0.384000	0.26145	0.627000	0.37826	0.696000	0.25541	0.133000	0.18654	0.486000	0.48141	TTC	DEFB108B	-	NULL	ENSG00000184276		0.413	DEFB108B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB108B	HGNC	protein_coding	OTTHUMT00000394945.1	-	0	61	0	C	NM_001002035		71544281	1	tier1	-	no_errors	ENST00000328698	ensembl	human	known	74_37	missense	33.33	30	15	SNP	0.484	G	G	71544281	C	G	71544281	3	3	118	1	0	0	0	0	1	0	0	0	4412	912	32	5	38	5	DEFB108B	11	71544281	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	6921385	71544281	63462235	131	31327											
RNF169	254225	genome.wustl.edu	37	chr11	74546963	74546963	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagtgggaacagatctttCaggagcggcagatcaaaaag	17	6	12	6	1	3	2	2	0	1	2	3	4	3	4	0	3	2	1	0	3	5	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:74546963C>T	ENST00000299563.4	+	6	1328	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	439					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACAGATCTTTCAGGAGCGGCA	0.473																																																	0													81	82	82					11																	74546963		1841	4094	5935	SO:0001587	stop_gained	0			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1315C>T	11.37:g.74546963C>T	ENSP00000299563:p.Gln439*		Q6N015	Nonsense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.Q439*	ENST00000299563.4	37	c.1315	CCDS41691.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.862293	0.97036	.	.	ENSG00000166439	ENST00000299563	.	.	.	5.99	5.99	0.97316	.	0.225948	0.40469	N	0.001082	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-30.5872	17.9695	0.89108	0.0:1.0:0.0:0.0	.	.	.	.	X	439	.	ENSP00000299563:Q439X	Q	+	1	0	RNF169	74224611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.253000	0.51469	2.847000	0.97988	0.655000	0.94253	CAG	RNF169	-	NULL	ENSG00000166439		0.473	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF169	HGNC	protein_coding	OTTHUMT00000384741.1	-	0	23	0	C	XM_495886		74546963	1	tier1	-	no_errors	ENST00000299563	ensembl	human	known	74_37	nonsense	39.13	14	9	SNP	0.999	T	T	74546963	C	T	74546963	4	4	118	1	0	0	0	0	0	1	0	0	13505	827	29	3	1337	3	RNF169	11	74546963	Nonsense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	3002682	74546963	60459553	132	31328											
GPR83	10888	genome.wustl.edu	37	chr11	94134350	94134350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctgctcgtcggcccggcCctcgtggggctcggtggctc	0	9	16	16	5	1	0	0	0	1	0	6	0	1	0	2	6	1	4	2	6	0	0	rs543076194		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:94134350C>A	ENST00000243673.2	-	1	235	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C	GPR83_ENST00000539203.2_Missense_Mutation_p.G22C	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	22					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)				TCGGCCCGGCCCTCGTGGGGC	0.662																																																	0													28	31	30					11																	94134350		2196	4295	6491	SO:0001583	missense	0			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.64G>T	11.37:g.94134350C>A	ENSP00000243673:p.Gly22Cys		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.G22C	ENST00000243673.2	37	c.64	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427681	0.25726	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.61274	0.12;0.22	4.04	1.46	0.22682	.	0.559883	0.16727	N	0.202027	T	0.31104	0.0786	N	0.08118	0	0.09310	N	1	B	0.30709	0.291	B	0.27262	0.078	T	0.16689	-1.0394	10	0.56958	D	0.05	.	5.4474	0.16544	0.0:0.3237:0.0:0.6763	.	22	Q9NYM4	GPR83_HUMAN	C	22	ENSP00000243673:G22C;ENSP00000441550:G22C	ENSP00000243673:G22C	G	-	1	0	GPR83	93773998	0.000000	0.05858	0.058000	0.19502	0.053000	0.15095	0.070000	0.14573	0.218000	0.20820	0.462000	0.41574	GGC	GPR83	-	NULL	ENSG00000123901		0.662	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1	-	0	17	0	C	NM_016540		94134350	-1	tier1	-	no_errors	ENST00000243673	ensembl	human	known	74_37	missense	78.57	3	11	SNP	0.001	A	A	94134350	C	A	94134350	3	1	118	1	0	0	0	0	1	0	0	0	6739	623	22	3	1223	3	GPR83	11	94134350	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	19587387	94134350	40872166	133	31329											
TRPC6	7225	genome.wustl.edu	37	chr11	101323836	101323836	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcttaatttccttcagttcCcctttgaaagcaagagtgat	10	15	7	9	0	1	3	1	2	0	1	3	3	3	3	3	0	2	3	3	0	3	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:101323836C>A	ENST00000344327.3	-	13	3070	c.2646G>T	c.(2644-2646)ggG>ggT	p.G882G	TRPC6_ENST00000348423.4_Splice_Site_p.G766G|TRPC6_ENST00000360497.4_Splice_Site_p.G827G|TRPC6_ENST00000532133.1_Splice_Site_p.G804G	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	882					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)		CCTTCAGTTCCCCTTTGAAAG	0.398																																					Colon(166;1315 1927 11094 12848 34731)												0													107	104	105					11																	101323836		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2645-1G>T	11.37:g.101323836C>A			Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.G882	ENST00000344327.3	37	c.2646	CCDS8311.1	11																																																																																			TRPC6	-	superfamily_ARM-type_fold,tigrfam_TRP_channel	ENSG00000137672		0.398	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	-	0	36	0	C	NM_004621	Silent	101323836	-1	tier1	-	no_errors	ENST00000344327	ensembl	human	known	74_37	silent	32.14	19	9	SNP	1.000	A	A	101323836	C	A	101323836	5	1	118	1	0	0	0	0	0	0	1	0	16631	637	22	3	153	3	TRPC6	11	101323836	Splice_Site	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	7189486	101323836	33682680	134	31330											
CASP5	838	genome.wustl.edu	37	chr11	104878040	104878041	+	Frame_Shift_Ins	INS	-	-	T																															gtattccaacatcttaactgINSttttttttttgtggttgtct																								rs112680102|rs144697764		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:104878040_104878041insT	ENST00000260315.3	-	3	201_202	c.202_203insA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000444749.2_Frame_Shift_Ins_p.T10fs|CASP5_ENST00000393139.2_Frame_Shift_Ins_p.T35fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Frame_Shift_Ins_p.T81fs|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.T81fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CATCTTAACTGTTTTTTTTTTG	0.356																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.203dupA	11.37:g.104878050_104878050dupT	ENSP00000260315:p.Thr68fs		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Ins	INS	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.T81fs	ENST00000260315.3	37	c.242_241	CCDS8328.2	11																																																																																			CASP5	-	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000137757		0.356	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2		0	28	0	-	NM_004347		104878041	-1	tier1		no_errors	ENST00000393141	ensembl	human	known	74_37	frame_shift_ins	16.67	20	4	INS	0.000:0.000	T	T	104878041	-	T	104878040	7	5	118	1	0	1	1	0	0	0	0	0	2681	1377	48	0	1129	0	CASP5	11	104878040	Frame_Shift_Ins	INS	-	TCGA-LN-A4A9-01A-11D-A28B-09	3554204	104878040	30128476	135	31331											
NCAM1	4684	genome.wustl.edu	37	chr11	113103878	113103878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccccacagacaccccctCttcaccatccatcgaccagg	9	7	4	21	1	2	1	1	0	1	1	5	2	4	1	7	1	0	0	7	1	0	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:113103878C>A	ENST00000533760.1	+	12	1747	c.1148C>A	c.(1147-1149)tCt>tAt	p.S383Y	NCAM1_ENST00000401611.2_Missense_Mutation_p.S510Y|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.S501Y	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	511	Ig-like C2-type 4.				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)		GACACCCCCTCTTCACCATCC	0.532																																																	0													67	68	68					11																	113103878		2027	4183	6210	SO:0001583	missense	0				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.1148C>A	11.37:g.113103878C>A	ENSP00000473281:p.Ser383Tyr		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.S501Y	ENST00000533760.1	37	c.1502		11	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013037	0.93346	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.58797	0.83;0.31	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000001	T	0.79557	0.4466	.	.	.	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	0.80188	-0.1486	9	0.87932	D	0	-19.8651	20.6208	0.99490	0.0:1.0:0.0:0.0	.	511;501;511;501	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	Y	383;510;501	ENSP00000384055:S510Y;ENSP00000318472:S501Y	ENSP00000318472:S501Y	S	+	2	0	NCAM1	112609088	1.000000	0.71417	0.971000	0.41717	0.989000	0.77384	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	TCT	NCAM1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149294		0.532	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	-	0	50	0	C	NM_000615		113103878	1	tier1	-	no_errors	ENST00000316851	ensembl	human	known	74_37	missense	44.44	20	16	SNP	1.000	A	A	113103878	C	A	113103878	3	1	118	1	0	0	0	0	1	0	0	0	10241	913	32	3	1583	3	NCAM1	11	113103878	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	8225838	113103878	21902638	136	31332											
IGSF9B	22997	genome.wustl.edu	37	chr11	133790066	133790066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaactgggctcggcgcgcCtggcctgccgagggctaggc	5	6	17	13	4	0	0	0	0	0	0	1	1	0	0	3	5	2	3	3	5	3	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr11:133790066C>A	ENST00000321016.8	-	18	3784	c.3554G>T	c.(3553-3555)aGg>aTg	p.R1185M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1185M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1185	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)		CTCGGCGCGCCTGGCCTGCCG	0.721																																																	0													27	33	31					11																	133790066		1876	4077	5953	SO:0001583	missense	0			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.3554G>T	11.37:g.133790066C>A	ENSP00000317980:p.Arg1185Met		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1185M	ENST00000321016.8	37	c.3554		11	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101707	0.76983	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.76709	-0.75;-1.04	5.08	5.08	0.68730	.	0.000000	0.45126	D	0.000396	T	0.82015	0.4945	L	0.27053	0.805	0.45995	D	0.998809	D	0.76494	0.999	D	0.74674	0.984	D	0.84861	0.0819	10	0.87932	D	0	.	18.0591	0.89371	0.0:1.0:0.0:0.0	.	1185	Q9UPX0	TUTLB_HUMAN	M	1185;1027	ENSP00000317980:R1185M;ENSP00000436552:R1027M	ENSP00000317980:R1185M	R	-	2	0	IGSF9B	133295276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.527000	0.60573	2.358000	0.79984	0.455000	0.32223	AGG	IGSF9B	-	NULL	ENSG00000080854		0.721	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		-	0	107	0	C	XM_290502		133790066	-1	tier1	-	no_errors	ENST00000321016	ensembl	human	known	74_37	missense	73.02	34	92	SNP	1.000	A	A	133790066	C	A	133790066	3	1	118	1	0	0	0	0	1	0	0	0	7633	681	24	3	503	3	IGSF9B	11	133790066	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	20686188	133790066	1216450	137	31333											
KDM5A	5927	genome.wustl.edu	37	chr12	419007	419007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtttcctccaatccttcctCcagatcactcagaggctcca	8	11	6	16	0	2	2	2	0	0	2	8	2	8	2	6	2	0	2	6	2	1	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:419007C>T	ENST00000399788.2	-	22	3702	c.3340G>A	c.(3340-3342)Gag>Aag	p.E1114K	KDM5A_ENST00000382815.4_Missense_Mutation_p.E1114K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1114					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						AATCCTTCCTCCAGATCACTC	0.393			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													131	128	129					12																	419007		1843	4094	5937	SO:0001583	missense	0				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.3340G>A	12.37:g.419007C>T	ENSP00000382688:p.Glu1114Lys		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.E1114K	ENST00000399788.2	37	c.3340	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193007	0.78902	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.84660	-1.88;-1.71	5.92	5.92	0.95590	.	0.049468	0.85682	D	0.000000	D	0.86560	0.5962	M	0.64404	1.975	0.52501	D	0.999954	B;B;B	0.25206	0.012;0.004;0.12	B;B;B	0.31946	0.037;0.004;0.138	T	0.83111	-0.0123	10	0.62326	D	0.03	-10.9778	20.3081	0.98638	0.0:1.0:0.0:0.0	.	1114;1114;1114	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	K	1114	ENSP00000382688:E1114K;ENSP00000372265:E1114K	ENSP00000372265:E1114K	E	-	1	0	KDM5A	289268	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.818000	0.69236	2.795000	0.96236	0.655000	0.94253	GAG	KDM5A	-	NULL	ENSG00000073614		0.393	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	-	0	44	0	C	NM_005056		419007	-1	tier1	-	no_errors	ENST00000399788	ensembl	human	known	74_37	missense	38.71	38	24	SNP	1.000	T	T	419007	C	T	419007	3	4	118	1	0	0	0	0	1	0	0	0	8160	864	30	3	1760	3	KDM5A	12	419007	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09		419007	133432888	138	31334											
TEAD4	7004	genome.wustl.edu	37	chr12	3104056	3104056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacaatgacgcagagggcGtgtggagcccggatattgag	10	7	16	8	4	0	3	0	2	0	1	1	6	0	5	1	3	1	1	1	3	2	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:3104056G>T	ENST00000359864.2	+	3	314	c.124G>T	c.(124-126)Gtg>Ttg	p.V42L	TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Missense_Mutation_p.V42L	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	42					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CGCAGAGGGCGTGTGGAGCCC	0.622																																																	0													125	132	130					12																	3104056		2203	4300	6503	SO:0001583	missense	0			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.124G>T	12.37:g.3104056G>T	ENSP00000352926:p.Val42Leu		H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.V42L	ENST00000359864.2	37	c.124	CCDS31729.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.381723	0.95967	.	.	ENSG00000197905	ENST00000358409;ENST00000536826;ENST00000359864;ENST00000543035	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.93898	3.47	0.80722	D	1	D	0.60160	0.987	D	0.74674	0.984	T	0.81714	-0.0807	10	0.87932	D	0	-20.3223	18.1043	0.89515	0.0:0.0:1.0:0.0	.	42	Q15561	TEAD4_HUMAN	L	42	ENSP00000351184:V42L;ENSP00000438453:V42L;ENSP00000352926:V42L;ENSP00000444528:V42L	ENSP00000351184:V42L	V	+	1	0	TEAD4	2974317	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	9.869000	0.99810	2.513000	0.84729	0.650000	0.86243	GTG	TEAD4	-	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS	ENSG00000197905		0.622	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398475.1	-	0	93	0	G	NM_003213		3104056	1	tier1	-	no_errors	ENST00000359864	ensembl	human	known	74_37	missense	71.43	18	45	SNP	1.000	T	T	3104056	G	T	3104056	3	4	118	1	0	0	0	0	1	0	0	0	15788	1145	40	2	126	2	TEAD4	12	3104056	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	2685049	3104056	130747839	139	31335											
A2M	2	genome.wustl.edu	37	chr12	9254052	9254052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccttctcaccagataataGaaggagagcttcttcagccc	11	10	7	13	0	3	3	2	0	2	3	5	4	4	3	3	1	2	1	3	1	3	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:9254052G>C	ENST00000318602.7	-	12	1792	c.1485C>G	c.(1483-1485)ttC>ttG	p.F495L		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	495					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)	CCAGATAATAGAAGGAGAGCT	0.468																																																	0													49	46	47					12																	9254052		1882	4110	5992	SO:0001583	missense	0			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.1485C>G	12.37:g.9254052G>C	ENSP00000323929:p.Phe495Leu		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.F495L	ENST00000318602.7	37	c.1485	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085763	0.55861	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.63913	-0.07	5.85	4.02	0.46733	Alpha-2-macroglobulin, N-terminal 2 (1);	0.066264	0.64402	D	0.000006	T	0.74527	0.3728	M	0.74258	2.255	0.34431	D	0.698545	D	0.71674	0.998	D	0.68353	0.957	T	0.80476	-0.1366	10	0.51188	T	0.08	.	9.0245	0.36220	0.2279:0.0:0.7721:0.0	.	495	P01023	A2MG_HUMAN	L	495;510	ENSP00000323929:F495L	ENSP00000323929:F495L	F	-	3	2	A2M	9145319	1.000000	0.71417	0.992000	0.48379	0.265000	0.26407	0.517000	0.22832	0.809000	0.34255	0.655000	0.94253	TTC	A2M	-	pfam_A2M_N_2	ENSG00000175899		0.468	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	-	0	22	0	G	NM_000014		9254052	-1	tier1	-	no_errors	ENST00000318602	ensembl	human	known	74_37	missense	42.31	15	11	SNP	1.000	C	C	9254052	G	C	9254052	3	2	118	1	0	0	0	0	1	0	0	0	4	933	33	5	3039	5	A2M	12	9254052	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	6149996	9254052	124597843	140	31336											
TIMELESS	8914	genome.wustl.edu	37	chr12	56827937	56827937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggctagaagttcacagttCatcatgtgcaagtccataca	12	11	9	9	0	3	1	3	0	0	1	4	1	4	1	1	1	2	4	1	1	4	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:56827937C>T	ENST00000553532.1	-	2	168	c.18G>A	c.(16-18)atG>atA	p.M6I	TIMELESS_ENST00000229201.4_Missense_Mutation_p.M6I|TIMELESS_ENST00000554616.1_Missense_Mutation_p.M6I					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GTTCACAGTTCATCATGTGCA	0.438																																																	0													130	113	119					12																	56827937		2203	4300	6503	SO:0001583	missense	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.18G>A	12.37:g.56827937C>T	ENSP00000450607:p.Met6Ile			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.M6I	ENST00000553532.1	37	c.18	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954056	0.92726	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.12147	3.1;3.11;2.71	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	L	0.31926	0.97	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.59171	0.853;0.718	T	0.00339	-1.1805	10	0.59425	D	0.04	-25.5175	18.4236	0.90600	0.0:1.0:0.0:0.0	.	6;6	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	I	6	ENSP00000229201:M6I;ENSP00000450607:M6I;ENSP00000450848:M6I	ENSP00000229201:M6I	M	-	3	0	TIMELESS	55114204	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.125000	0.77193	2.735000	0.93741	0.555000	0.69702	ATG	TIMELESS	-	NULL	ENSG00000111602		0.438	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	-	0	37	0	C	NM_003920		56827937	-1	tier1	-	no_errors	ENST00000553532	ensembl	human	known	74_37	missense	40.48	25	17	SNP	1.000	T	T	56827937	C	T	56827937	3	4	118	1	0	0	0	0	1	0	0	0	15951	826	29	3	3720	3	TIMELESS	12	56827937	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	47573885	56827937	77023958	141	31337											
RDH16	8608	genome.wustl.edu	37	chr12	57348715	57348715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	ggagtcagagaaggcttccaCgccatacttggagatgcagt	11	8	13	9	1	1	2	1	0	0	2	2	5	2	3	2	3	2	2	2	3	2	3	rs572909088		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:57348715C>A	ENST00000398138.3	-	2	1403	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	183					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						AAGGCTTCCACGCCATACTTG	0.592																																					GBM(179;741 2921 43105 45298)												0													60	67	65					12																	57348715		2056	4216	6272	SO:0001583	missense	0				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.547G>T	12.37:g.57348715C>A	ENSP00000381206:p.Val183Leu		Q9UNV2	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.V183L	ENST00000398138.3	37	c.547	CCDS41797.1	12	.	.	.	.	.	.	.	.	.	.	C	9.757	1.168984	0.21621	.	.	ENSG00000139547	ENST00000398138	D	0.84442	-1.85	4.98	-2.83	0.05769	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.317289	0.25543	N	0.029946	T	0.72581	0.3478	N	0.13043	0.29	0.09310	N	0.999996	B	0.33103	0.397	B	0.42214	0.38	T	0.65623	-0.6123	10	0.46703	T	0.11	.	6.8959	0.24255	0.0:0.4593:0.1117:0.429	.	183	O75452	RDH16_HUMAN	L	183	ENSP00000381206:V183L	ENSP00000381206:V183L	V	-	1	0	RDH16	55634982	0.422000	0.25473	0.000000	0.03702	0.005000	0.04900	1.095000	0.30964	-0.863000	0.04084	-1.000000	0.02509	GTG	RDH16	-	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000139547		0.592	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH16	HGNC	protein_coding	OTTHUMT00000410898.1	-	0	26	0	C	NM_003708		57348715	-1	tier1	-	no_errors	ENST00000398138	ensembl	human	known	74_37	missense	43.33	17	13	SNP	0.034	A	A	57348715	C	A	57348715	3	1	118	1	0	0	0	0	1	0	0	0	13239	536	19	2	418	2	RDH16	12	57348715	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	520778	57348715	76503180	142	31338											
GRIP1	23426	genome.wustl.edu	37	chr12	66839162	66839162	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gtggagaagagagagtttctGtggcaaacacactgccctgc	11	8	13	9	0	1	3	0	0	1	3	1	5	1	3	1	2	3	2	1	2	2	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:66839162G>T	ENST00000398016.3	-	11	1393	c.1325C>A	c.(1324-1326)aCa>aAa	p.T442K	GRIP1_ENST00000359742.4_Missense_Mutation_p.T494K|GRIP1_ENST00000286445.7_Missense_Mutation_p.T494K	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)		GAGAGTTTCTGTGGCAAACAC	0.507																																																	0													101	105	103					12																	66839162		1973	4168	6141	SO:0001583	missense	0			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.1325C>A	12.37:g.66839162G>T	ENSP00000381098:p.Thr442Lys		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T494K	ENST00000398016.3	37	c.1481	CCDS41807.1	12	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	21.8|21.8|21.8	4.196812|4.196812|4.196812	0.79015|0.79015|0.79015	.|.|.	.|.|.	ENSG00000155974|ENSG00000155974|ENSG00000155974	ENST00000543172|ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|.|T;T;T;T;T;T	.|.|0.25579	.|.|1.79;1.79;1.79;1.79;1.79;1.79	4.75|4.75|4.75	4.75|4.75|4.75	0.60458|0.60458|0.60458	.|.|PDZ/DHR/GLGF (4);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.48960|0.48960|0.48960	0.1529|0.1529|0.1529	M|M|M	0.62154|0.62154|0.62154	1.92|1.92|1.92	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D	.|.|0.89917	.|.|1.0;0.979;0.993;0.999	.|.|D;D;D;D	.|.|0.81914	.|.|0.995;0.946;0.923;0.982	T|T|T	0.45440|0.45440|0.45440	-0.9261|-0.9261|-0.9261	5|5|9	.|.|.	.|.|.	.|.|.	-10.7717|-10.7717|-10.7717	17.7406|17.7406|17.7406	0.88406|0.88406|0.88406	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|442;494;442;494	.|.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.|.;GRIP1_HUMAN;.;.	Q|K|K	261|309|442;494;494;442;386;334	.|.|ENSP00000381098:T442K;ENSP00000352780:T494K;ENSP00000286445:T494K;ENSP00000446047:T442K;ENSP00000446024:T386K;ENSP00000446011:T334K	.|.|.	H|Q|T	-|-|-	3|1|2	2|0|0	GRIP1|GRIP1|GRIP1	65125429|65125429|65125429	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.684000|0.684000|0.684000	0.39900|0.39900|0.39900	9.471000|9.471000|9.471000	0.97696|0.97696|0.97696	2.172000|2.172000|2.172000	0.68678|0.68678|0.68678	0.442000|0.442000|0.442000	0.29010|0.29010|0.29010	CAC|CAG|ACA	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000155974		0.507	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	-	0	38	0	G			66839162	-1	tier1	-	no_errors	ENST00000359742	ensembl	human	known	74_37	missense	26.47	50	18	SNP	1.000	T	T	66839162	G	T	66839162	3	4	118	1	0	0	0	0	1	0	0	0	6814	1377	48	3	1961	3	GRIP1	12	66839162	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	9490447	66839162	67012733	143	31339											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85449856	85449856	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccaaaaatctagtggatGaaaattcaaagaagcaggaa	20	7	9	5	0	2	2	1	1	1	1	2	4	2	4	1	2	2	1	1	2	9	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:85449856G>T	ENST00000393217.2	+	8	1346	c.1285G>T	c.(1285-1287)Gaa>Taa	p.E429*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	429										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTAGTGGATGAAAATTCAAA	0.299																																																	0													83	95	91					12																	85449856		2200	4296	6496	SO:0001587	stop_gained	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1285G>T	12.37:g.85449856G>T	ENSP00000376910:p.Glu429*		Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E429*	ENST00000393217.2	37	c.1285	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	g	18.39	3.614593	0.66672	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	4.75	1.82	0.25136	.	0.509272	0.17322	N	0.178462	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	1.2708	0.02020	0.273:0.1576:0.4089:0.1604	.	.	.	.	X	429;404;429	.	ENSP00000256007:E429X	E	+	1	0	LRRIQ1	83973987	0.001000	0.12720	0.000000	0.03702	0.165000	0.22458	0.693000	0.25497	0.530000	0.28619	-0.648000	0.03929	GAA	LRRIQ1	-	NULL	ENSG00000133640		0.299	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2		0	45	0	G	NM_032165		85449856	1			no_errors	ENST00000393217	ensembl	human	known	74_37	nonsense	8.33	33	3	SNP	0.000	T	T	85449856	G	T	85449856	4	4	118	1	0	0	0	0	0	1	0	0	9064	1291	45	3	1311	3	LRRIQ1	12	85449856	Nonsense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	18610694	85449856	48402039	144	31340											
EEA1	8411	genome.wustl.edu	37	chr12	93169819	93169819	+	Missense_Mutation	SNP	A	A	C	1	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	gtcattgaaacatgcatcacAgacacgaacaggcttcttgg	13	9	9	10	1	3	2	2	1	1	1	3	3	3	2	0	2	3	2	0	2	2	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:93169819A>C	ENST00000322349.8	-	29	4468	c.4204T>G	c.(4204-4206)Tgt>Ggt	p.C1402G		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1402					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CATGCATCACAGACACGAACA	0.373																																																	0													102	95	98					12																	93169819		2203	4299	6502	SO:0001583	missense	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.4204T>G	12.37:g.93169819A>C	ENSP00000317955:p.Cys1402Gly		Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.C1402G	ENST00000322349.8	37	c.4204	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930598	0.73327	.	.	ENSG00000102189	ENST00000322349	D	0.99836	-7.05	5.51	5.51	0.81932	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	0.64402	D	0.000016	D	0.99910	0.9957	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95970	0.8969	10	0.87932	D	0	.	15.6104	0.76713	1.0:0.0:0.0:0.0	.	1402	Q15075	EEA1_HUMAN	G	1402	ENSP00000317955:C1402G	ENSP00000317955:C1402G	C	-	1	0	EEA1	91693950	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.300000	0.96151	2.082000	0.62665	0.460000	0.39030	TGT	EEA1	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000102189		0.373	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	-	0	31	0	A	NM_003566		93169819	-1	tier1	-	no_errors	ENST00000322349	ensembl	human	known	74_37	missense	25.93	40	14	SNP	1.000	C	C	93169819	A	C	93169819	3	2	118	1	0	0	0	0	1	0	0	0	4935	188	7	4	35	4	EEA1	12	93169819	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	7719963	93169819	40682076	145	31341											
SNRPF	6636	genome.wustl.edu	37	chr12	96259806	96259806	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taataatgtcctttatatcaGaggtgtggaagaagaggaag	15	11	12	3	0	1	3	1	0	0	3	2	5	2	5	1	3	0	0	1	3	7	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:96259806G>C	ENST00000266735.5	+	4	364	c.218G>C	c.(217-219)aGa>aCa	p.R73T	SNRPF_ENST00000553192.1_Intron|SNRPF_ENST00000552085.1_Intron	NM_003095.2	NP_003086.1	P62306	RUXF_HUMAN	small nuclear ribonucleoprotein polypeptide F	73					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)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			kidney(1)|lung(1)	2						CTTTATATCAGAGGTGTGGAA	0.299																																					Melanoma(51;669 1224 3250 18967 46236)												0													52	55	54					12																	96259806		2203	4296	6499	SO:0001583	missense	0			X85372	CCDS9055.1	12q23.1	2011-10-11			ENSG00000139343	ENSG00000139343			11162	protein-coding gene	gene with protein product		603541				7744013	Standard	NM_003095		Approved	Sm-F	uc001tej.3	P62306		ENST00000266735.5:c.218G>C	12.37:g.96259806G>C	ENSP00000266735:p.Arg73Thr		A2VCR2|B2R498|Q15356|Q6IBQ1|Q6P4I0	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP_SmF	p.R73T	ENST00000266735.5	37	c.218	CCDS9055.1	12	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446084	0.84101	.	.	ENSG00000139343	ENST00000266735	T	0.42900	0.96	5.59	5.59	0.84812	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	.	.	.	0.80722	D	1	P	0.41159	0.74	P	0.44673	0.457	T	0.51988	-0.8635	9	0.62326	D	0.03	8.6033	19.1852	0.93641	0.0:0.0:1.0:0.0	.	73	P62306	RUXF_HUMAN	T	73	ENSP00000266735:R73T	ENSP00000266735:R73T	R	+	2	0	SNRPF	94783937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.631000	0.90991	2.634000	0.89283	0.591000	0.81541	AGA	SNRPF	-	superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP_SmF	ENSG00000139343		0.299	SNRPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPF	HGNC	protein_coding	OTTHUMT00000408626.1	-	0	62	0	G	NM_003095		96259806	1	tier1	-	no_errors	ENST00000266735	ensembl	human	known	74_37	missense	56.96	34	45	SNP	1.000	C	C	96259806	G	C	96259806	3	2	118	1	0	0	0	0	1	0	0	0	14913	942	33	5	232	5	SNRPF	12	96259806	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	3089987	96259806	37592089	146	31342											
CHST11	50515	genome.wustl.edu	37	chr12	104995745	104995745	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggggtcccgaagccccctGcaggaactctacaacccaat	12	5	9	15	1	1	0	0	0	1	0	2	2	2	1	4	3	5	1	4	3	6	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:104995745G>T	ENST00000303694.5	+	2	619	c.180G>T	c.(178-180)ctG>ctT	p.L60L	CHST11_ENST00000546689.1_Silent_p.L55L|CHST11_ENST00000547956.1_Silent_p.L60L|CHST11_ENST00000549260.1_Silent_p.L55L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	60					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GAAGCCCCCTGCAGGAACTCT	0.458																																																	0													79	77	77					12																	104995745		2203	4300	6503	SO:0001819	synonymous_variant	0			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.180G>T	12.37:g.104995745G>T			A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	pfam_Sulfotransferase	p.L60	ENST00000303694.5	37	c.180	CCDS9099.1	12																																																																																			CHST11	-	NULL	ENSG00000171310		0.458	CHST11-001	KNOWN	basic|CCDS	protein_coding	CHST11	HGNC	protein_coding	OTTHUMT00000405960.2	-	0	44	0	G	NM_018413		104995745	1	tier1	-	no_errors	ENST00000303694	ensembl	human	known	74_37	silent	34.04	31	16	SNP	1.000	T	T	104995745	G	T	104995745	2	4	118	1	0	0	0	0	0	0	0	1	3406	1306	46	3		3	CHST11	12	104995745	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	8735939	104995745	28856150	147	31343											
CUX2	23316	genome.wustl.edu	37	chr12	111748077	111748077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgcccccagccgccttCaagggagaggcgggcggcct	7	5	15	14	3	1	2	1	1	0	1	1	3	1	2	5	4	2	0	5	4	1	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:111748077C>T	ENST00000261726.6	+	15	1645	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	497	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						CAGCCGCCTTCAAGGGAGAGG	0.706																																																	0													9	10	10					12																	111748077		1856	4056	5912	SO:0001819	synonymous_variant	0			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.1491C>T	12.37:g.111748077C>T			A7E2Y4	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.F497	ENST00000261726.6	37	c.1491	CCDS41837.1	12																																																																																			CUX2	-	NULL	ENSG00000111249		0.706	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	-	0	13	0	C	NM_015267		111748077	1	tier1	-	no_errors	ENST00000261726	ensembl	human	known	74_37	silent	70.59	5	12	SNP	1.000	T	T	111748077	C	T	111748077	2	4	118	1	0	0	0	0	0	0	0	1	4074	825	29	3		3	CUX2	12	111748077	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	6752332	111748077	22103818	148	31344											
C12orf51	283450	genome.wustl.edu	37	chr12	112607445	112607445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacagaagtaggagttttCagaagctctgatttcccctg	10	12	10	9	0	2	4	1	2	1	2	3	5	3	5	2	1	1	3	2	1	3	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:112607445C>T	ENST00000430131.2	-	69	11949	c.10804G>A	c.(10804-10806)Gaa>Aaa	p.E3602K	HECTD4_ENST00000550722.1_Missense_Mutation_p.E3878K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E3852K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3602					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)										TAGGAGTTTTCAGAAGCTCTG	0.607																																																	0													44	51	49					12																	112607445		2010	4171	6181	SO:0001583	missense	0			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.10804G>A	12.37:g.112607445C>T	ENSP00000404379:p.Glu3602Lys		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.E3852K	ENST00000430131.2	37	c.11554		12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375414	0.82682	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.44083	0.93;0.93;0.93	5.88	5.88	0.94601	.	.	.	.	.	T	0.46889	0.1416	N	0.08118	0	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	T	0.56025	-0.8047	9	0.59425	D	0.04	.	20.2207	0.98324	0.0:1.0:0.0:0.0	.	3602	Q9Y4D8	K0614_HUMAN	K	3852;3602;3878;67	ENSP00000366783:E3852K;ENSP00000404379:E3602K;ENSP00000449784:E3878K	ENSP00000366783:E3852K	E	-	1	0	C12orf51	111091828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.304000	0.78882	2.790000	0.95986	0.591000	0.81541	GAA	HECTD4	-	NULL	ENSG00000173064		0.607	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	20	0	C	NM_173813		112607445	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	T	T	112607445	C	T	112607445	3	4	118	1	0	0	0	0	1	0	0	0	1701	835	29	3	1214	3	C12orf51	12	112607445	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	859368	112607445	21244450	149	31345											
GPR109A	338442	genome.wustl.edu	37	chr12	123187417	123187417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgctgtccgattggagatCttgttcagggcgtggtgggg	4	12	18	7	2	2	1	1	0	1	1	3	3	3	1	1	5	1	3	1	5	0	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:123187417C>G	ENST00000328880.5	-	1	473	c.414G>C	c.(412-414)aaG>aaC	p.K138N	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	138					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)	GATTGGAGATCTTGTTCAGGG	0.552																																																	0													129	115	120					12																	123187417		2203	4300	6503	SO:0001583	missense	0			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.414G>C	12.37:g.123187417C>G	ENSP00000375066:p.Lys138Asn		A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.K138N	ENST00000328880.5	37	c.414	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152617	0.57259	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.73258	-0.73	5.55	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.312349	0.26746	N	0.022711	T	0.66742	0.2820	L	0.52759	1.655	0.27401	N	0.954857	P	0.43633	0.813	P	0.50270	0.636	T	0.56013	-0.8049	10	0.28530	T	0.3	-18.8221	4.5217	0.11962	0.1461:0.4908:0.2836:0.0796	.	138	Q8TDS4	HCAR2_HUMAN	N	138	ENSP00000375066:K138N	ENSP00000375066:K138N	K	-	3	2	HCAR2	121753370	0.929000	0.31497	1.000000	0.80357	0.995000	0.86356	0.380000	0.20602	0.885000	0.36088	0.655000	0.94253	AAG	HCAR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182782		0.552	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	-	0	75	0	C	NM_177551		123187417	-1	tier1	-	no_errors	ENST00000328880	ensembl	human	known	74_37	missense	42.70	51	38	SNP	0.998	G	G	123187417	C	G	123187417	3	3	118	1	0	0	0	0	1	0	0	0	6651	912	32	5	681	5	GPR109A	12	123187417	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	10579972	123187417	10664478	150	31346											
TMEM132D	121256	genome.wustl.edu	37	chr12	129559126	129559126	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggctttcctggcctttcTtcttctgcaggatggacctg	6	14	10	11	0	3	0	0	0	3	0	4	2	4	2	3	4	1	2	3	4	1	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:129559126T>G	ENST00000422113.2	-	9	2920	c.2594A>C	c.(2593-2595)aAg>aCg	p.K865T	TMEM132D_ENST00000389441.4_Missense_Mutation_p.K403T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	865					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGGCCTTTCTTCTTCTGCAG	0.562																																																	0													88	89	89					12																	129559126		2203	4300	6503	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2594A>C	12.37:g.129559126T>G	ENSP00000408581:p.Lys865Thr		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.K865T	ENST00000422113.2	37	c.2594	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	T	5.534	0.283443	0.10458	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.10099	2.91;3.71	4.2	-1.68	0.08212	.	2.055660	0.02889	N	0.133948	T	0.09992	0.0245	L	0.41961	1.31	0.09310	N	1	B;B	0.16396	0.017;0.004	B;B	0.12837	0.008;0.006	T	0.32241	-0.9914	9	.	.	.	-12.9348	5.5095	0.16872	0.0:0.3327:0.1404:0.5268	.	865;403	Q14C87;Q14C87-2	T132D_HUMAN;.	T	403;865	ENSP00000374092:K403T;ENSP00000408581:K865T	.	K	-	2	0	TMEM132D	128125079	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	0.267000	0.18552	-0.566000	0.06054	0.379000	0.24179	AAG	TMEM132D	-	NULL	ENSG00000151952		0.562	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	-	0	149	0	T	NM_133448		129559126	-1	tier1	-	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	19.38	104	25	SNP	0.001	G	G	129559126	T	G	129559126	3	3	118	1	0	0	0	0	1	0	0	0	16094	1609	56	4	709	4	TMEM132D	12	129559126	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	6371709	129559126	4292769	151	31347											
P2RX2	22953	genome.wustl.edu	37	chr12	133197878	133197878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaatggcaccaccaccCgcacgctcatcaaggcctac	12	5	7	17	2	3	1	3	0	0	1	3	1	3	1	4	2	1	3	4	2	3	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr12:133197878C>A	ENST00000389110.3	+	9	980	c.943C>A	c.(943-945)Cgc>Agc	p.R315S	P2RX2_ENST00000348800.5_Missense_Mutation_p.R315S|P2RX2_ENST00000449132.2_Missense_Mutation_p.R281S|P2RX2_ENST00000343948.4_Missense_Mutation_p.R315S|P2RX2_ENST00000352418.4_Missense_Mutation_p.R243S|P2RX2_ENST00000351222.4_Missense_Mutation_p.R223S|P2RX2_ENST00000350048.5_Missense_Mutation_p.R291S	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	315					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)		CACCACCACCCGCACGCTCAT	0.612																																																	0													196	175	182					12																	133197878		2203	4300	6503	SO:0001583	missense	0			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.943C>A	12.37:g.133197878C>A	ENSP00000373762:p.Arg315Ser		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.R315S	ENST00000389110.3	37	c.943	CCDS31931.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429465	0.83776	.	.	ENSG00000187848	ENST00000389110;ENST00000449132;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800	T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56	4.96	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.93594	3.435	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	T	0.60449	-0.7261	10	0.72032	D	0.01	-31.9191	14.4493	0.67374	0.1476:0.8524:0.0:0.0	.	315;281;223;243;291;315;315;315	Q32MC3;Q9UBL9-7;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.;.;.;.;.;.;P2RX2_HUMAN;.	S	315;281;315;243;291;223;315	ENSP00000373762:R315S;ENSP00000405531:R281S;ENSP00000343339:R315S;ENSP00000341419:R243S;ENSP00000343904:R291S;ENSP00000344502:R223S;ENSP00000345095:R315S	ENSP00000343339:R315S	R	+	1	0	P2RX2	131707951	0.987000	0.35691	0.999000	0.59377	0.881000	0.50899	2.745000	0.47459	2.584000	0.87258	0.561000	0.74099	CGC	P2RX2	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000187848		0.612	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	HGNC	protein_coding	OTTHUMT00000397542.1	-	0	54	0	C			133197878	1	tier1	-	no_errors	ENST00000343948	ensembl	human	known	74_37	missense	41.54	38	27	SNP	1.000	A	A	133197878	C	A	133197878	3	1	118	1	0	0	0	0	1	0	0	0	11379	652	23	2	977	2	P2RX2	12	133197878	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	3638752	133197878	654017	152	31348											
FAM48A	55578	genome.wustl.edu	37	chr13	37618315	37618315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcagtcgaatggtctcgGaatcttaatttaaaacatga	14	11	10	6	2	2	1	0	1	2	0	4	3	2	2	0	3	1	1	0	3	5	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr13:37618315G>T	ENST00000350612.6	-	7	516	c.296C>A	c.(295-297)tCc>tAc	p.S99Y	SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000360252.4_Missense_Mutation_p.S100Y|SUPT20H_ENST00000356185.3_Missense_Mutation_p.S100Y|SUPT20H_ENST00000464744.1_Missense_Mutation_p.S100Y|SUPT20H_ENST00000542180.1_Missense_Mutation_p.S87Y|SUPT20H_ENST00000475892.1_Missense_Mutation_p.S99Y	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	99					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										AATGGTCTCGGAATCTTAATT	0.338																																																	0													67	70	69					13																	37618315		2203	4300	6503	SO:0001583	missense	0			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.296C>A	13.37:g.37618315G>T	ENSP00000218894:p.Ser99Tyr		E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	pfam_Spt20	p.S99Y	ENST00000350612.6	37	c.296	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939928	0.92526	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180;ENST00000497318	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.999;0.999;1.0;0.999;0.999	D;D;D;D;D;D	0.83275	0.986;0.989;0.986;0.996;0.991;0.996	T	0.67776	-0.5583	10	0.66056	D	0.02	-11.1982	20.5211	0.99222	0.0:0.0:1.0:0.0	.	87;99;99;100;100;99	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	Y	100;99;99;100;99;100;87;100	ENSP00000353388:S100Y;ENSP00000417510:S99Y;ENSP00000218894:S99Y;ENSP00000348512:S100Y;ENSP00000419754:S100Y;ENSP00000439000:S87Y;ENSP00000420170:S100Y	ENSP00000218894:S99Y	S	-	2	0	FAM48A	36516315	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.405000	0.97313	2.861000	0.98227	0.650000	0.86243	TCC	SUPT20H	-	pfam_Spt20	ENSG00000102710		0.338	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT20H	HGNC	protein_coding	OTTHUMT00000354766.1		0	37	0	G	NM_017569		37618315	-1			no_errors	ENST00000350612	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	37618315	G	T	37618315	3	4	118	1	0	0	0	0	1	0	0	0	5594	1174	41	3	2123	3	FAM48A	13	37618315	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09		37618315	77551563	153	31349											
VPS36	51028	genome.wustl.edu	37	chr13	53001132	53001132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacttatttacctcatcttCtgtgatgtcaccttgtttgt	7	19	5	10	0	4	1	2	1	2	0	4	1	4	1	2	0	2	1	2	0	3	6			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr13:53001132C>T	ENST00000378060.4	-	8	658	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		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)	211					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)		ACCTCATCTTCTGTGATGTCA	0.313																																																	0													152	140	144					13																	53001132		2203	4299	6502	SO:0001583	missense	0			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.631G>A	13.37:g.53001132C>T	ENSP00000367299:p.Glu211Lys		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	pfam_EAP30,pfam_VPS36_GLUE	p.E211K	ENST00000378060.4	37	c.631	CCDS9434.1	13	.	.	.	.	.	.	.	.	.	.	.	35	5.517509	0.96416	.	.	ENSG00000136100	ENST00000378060	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.67795	0.2931	M	0.84948	2.725	0.80722	D	1	P	0.35192	0.489	B	0.31390	0.129	T	0.67573	-0.5636	9	0.34782	T	0.22	-31.234	19.848	0.96722	0.0:1.0:0.0:0.0	.	211	Q86VN1	VPS36_HUMAN	K	211	.	ENSP00000367299:E211K	E	-	1	0	VPS36	51899133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.427000	0.80284	2.937000	0.99478	0.650000	0.86243	GAA	VPS36	-	pfam_EAP30	ENSG00000136100		0.313	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS36	HGNC	protein_coding	OTTHUMT00000045059.3	-	0	86	0	C			53001132	-1	tier1	-	no_errors	ENST00000378060	ensembl	human	known	74_37	missense	43.18	50	38	SNP	1.000	T	T	53001132	C	T	53001132	3	4	118	1	0	0	0	0	1	0	0	0	17253	922	32	3	557	3	VPS36	13	53001132	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	15382817	53001132	62168746	154	31350											
OR4N2	390429	genome.wustl.edu	37	chr14	20296476	20296476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtcatttatacccttcGcaaccaggaagtgaaagctt	11	12	7	11	1	1	1	1	1	0	0	3	2	2	2	3	1	3	2	3	1	5	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr14:20296476G>A	ENST00000315947.1	+	1	869	c.869G>A	c.(868-870)cGc>cAc	p.R290H	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	290						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)		TATACCCTTCGCAACCAGGAA	0.403																																																	0													47	50	49					14																	20296476		2203	4296	6499	SO:0001583	missense	0				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.869G>A	14.37:g.20296476G>A	ENSP00000319601:p.Arg290His		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R290H	ENST00000315947.1	37	c.869	CCDS32022.1	14	.	.	.	.	.	.	.	.	.	.	.	7.943	0.743201	0.15642	.	.	ENSG00000176294	ENST00000315947	T	0.41065	1.01	4.57	2.73	0.32206	.	0.000000	0.39909	N	0.001237	T	0.49372	0.1553	M	0.93462	3.42	0.19945	N	0.999941	B	0.32302	0.363	B	0.27715	0.082	T	0.53844	-0.8381	10	0.87932	D	0	-6.4057	8.7854	0.34818	0.1889:0.0:0.8111:0.0	.	290	Q8NGD1	OR4N2_HUMAN	H	290	ENSP00000319601:R290H	ENSP00000319601:R290H	R	+	2	0	OR4N2	19366316	0.173000	0.23056	0.675000	0.29917	0.112000	0.19704	2.979000	0.49313	0.651000	0.30788	0.591000	0.81541	CGC	OR4N2	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000176294		0.403	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	HGNC	protein_coding	OTTHUMT00000409821.2	-	0	114	0	G			20296476	1	tier1	-	no_errors	ENST00000315947	ensembl	human	known	74_37	missense	44.62	72	58	SNP	0.519	A	A	20296476	G	A	20296476	3	1	118	1	0	0	0	0	1	0	0	0	11116	1087	38	1	871	1	OR4N2	14	20296476	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09		20296476	87053064	155	31351											
MYH6	4624	genome.wustl.edu	37	chr14	23865995	23865995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctatcaatgaactgtccctCagggatggccactgggttca	9	10	11	11	0	3	1	3	1	0	0	4	2	4	2	2	3	1	2	2	3	3	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr14:23865995C>T	ENST00000356287.3	-	18	2229	c.2200G>A	c.(2200-2202)Gag>Aag	p.E734K	MYH6_ENST00000405093.3_Missense_Mutation_p.E734K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	734	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)		AACTGTCCCTCAGGGATGGCC	0.537																																																	0													109	87	94					14																	23865995		2203	4300	6503	SO:0001583	missense	0			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.2200G>A	14.37:g.23865995C>T	ENSP00000348634:p.Glu734Lys		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E734K	ENST00000356287.3	37	c.2200	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	.	24.2	4.504771	0.85176	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.86956	-2.19;-2.19	4.46	4.46	0.54185	Myosin head, motor domain (2);	.	.	.	.	D	0.84065	0.5390	N	0.16602	0.42	0.58432	D	0.999995	P	0.37688	0.605	P	0.48400	0.576	T	0.81660	-0.0832	9	0.22109	T	0.4	.	17.4868	0.87691	0.0:1.0:0.0:0.0	.	734	P13533	MYH6_HUMAN	K	734	ENSP00000386041:E734K;ENSP00000348634:E734K	ENSP00000348634:E734K	E	-	1	0	MYH6	22935835	1.000000	0.71417	0.748000	0.31131	0.802000	0.45316	7.455000	0.80726	2.208000	0.71279	0.650000	0.86243	GAG	MYH6	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197616		0.537	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0	86	0	C			23865995	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	32.88	49	24	SNP	1.000	T	T	23865995	C	T	23865995	3	4	118	1	0	0	0	0	1	0	0	0	10076	835	29	3	3703	3	MYH6	14	23865995	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	3569519	23865995	83483545	156	31352											
KLHDC1	122773	genome.wustl.edu	37	chr14	50201373	50201373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacacatttacctaaaacaaGacctaggtaagtcaagaaat	19	9	5	8	0	1	2	1	0	0	2	1	2	1	2	2	1	3	1	2	1	9	6	rs370596217		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr14:50201373G>A	ENST00000359332.2	+	10	980	c.890G>A	c.(889-891)aGa>aAa	p.R297K	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	297						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					CCTAAAACAAGACCTAGGTAA	0.279																																																	0													87	84	85					14																	50201373		2202	4298	6500	SO:0001583	missense	0			AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.890G>A	14.37:g.50201373G>A	ENSP00000352282:p.Arg297Lys		B3KXD9|Q8WYI1	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Gal_Oxase/kelch_b-propeller	p.R297K	ENST00000359332.2	37	c.890	CCDS9692.1	14	.	.	.	.	.	.	.	.	.	.	G	5.108	0.205578	0.09704	.	.	ENSG00000197776	ENST00000359332;ENST00000557128	T;T	0.10960	2.82;4.07	5.63	3.77	0.43336	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.147419	0.64402	N	0.000009	T	0.05273	0.0140	N	0.14661	0.345	0.33123	D	0.54198	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.23583	-1.0184	10	0.02654	T	1	-15.0194	10.6403	0.45590	0.1574:0.0:0.8426:0.0	.	168;297	G3V3T1;Q8N7A1	.;KLDC1_HUMAN	K	297;168	ENSP00000352282:R297K;ENSP00000451407:R168K	ENSP00000352282:R297K	R	+	2	0	KLHDC1	49271123	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.881000	0.39638	1.340000	0.45581	0.561000	0.74099	AGA	KLHDC1	-	superfamily_Gal_Oxase/kelch_b-propeller	ENSG00000197776		0.279	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC1	HGNC	protein_coding	OTTHUMT00000276882.2	-	0	13	0	G	NM_172193		50201373	1	tier1	-	no_errors	ENST00000359332	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	A	A	50201373	G	A	50201373	3	1	118	1	0	0	0	0	1	0	0	0	8381	942	33	3	928	3	KLHDC1	14	50201373	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	26335378	50201373	57148167	157	31353											
NIN	51199	genome.wustl.edu	37	chr14	51239778	51239778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctacactcattgtaccGtcaggatcaagattatggaa	12	13	7	9	1	5	1	3	0	2	1	5	3	5	3	1	2	2	1	1	2	5	5	rs369292594		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr14:51239778G>A	ENST00000382041.3	-	8	892	c.702C>T	c.(700-702)gaC>gaT	p.D234D	NIN_ENST00000245441.5_Silent_p.D234D|NIN_ENST00000324330.9_Silent_p.D234D|NIN_ENST00000389868.3_Silent_p.D234D|NIN_ENST00000530997.2_Silent_p.D234D|NIN_ENST00000453196.1_Silent_p.D234D|NIN_ENST00000382043.4_Silent_p.D234D	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	234	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)					TCATTGTACCGTCAGGATCAA	0.348			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0								G	,,,	1,4405	2.1+/-5.4	0,1,2202	97	95	96		702,702,702,702	2.4	1	14		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,	234/1378,234/2134,234/2047,234/2091	51239778	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.702C>T	14.37:g.51239778G>A			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.D234	ENST00000382041.3	37	c.702	CCDS32079.1	14																																																																																			NIN	-	NULL	ENSG00000100503		0.348	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	-	0	38	0	G	NM_182946		51239778	-1	tier1	-	no_errors	ENST00000245441	ensembl	human	known	74_37	silent	22.39	52	15	SNP	0.995	A	A	51239778	G	A	51239778	2	1	118	1	0	0	0	0	0	0	0	1	10456	1136	40	1		1	NIN	14	51239778	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	1038405	51239778	56109762	158	31354											
ADAM20	8748	genome.wustl.edu	37	chr14	70990362	70990362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctaaatttagttgtcacCtttctataggcatgcattat	10	18	6	7	0	2	0	1	0	1	0	2	0	2	0	1	1	2	4	1	1	6	9			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr14:70990362C>A	ENST00000256389.3	-	2	1507	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	371	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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)		TAGTTGTCACCTTTCTATAGG	0.433																																																	0													283	152	196					14																	70990362		2203	4300	6503	SO:0001583	missense	0			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.1263G>T	14.37:g.70990362C>A	ENSP00000256389:p.Lys421Asn		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.K421N	ENST00000256389.3	37	c.1263	CCDS32111.1	14	.	.	.	.	.	.	.	.	.	.	C	4.304	0.055619	0.08291	.	.	ENSG00000134007	ENST00000256389	T	0.64260	-0.09	4.54	-7.4	0.01397	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	2.357600	0.02515	U	0.091917	T	0.32010	0.0815	N	0.11201	0.11	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.13899	-1.0492	10	0.17369	T	0.5	.	0.6288	0.00791	0.3319:0.1351:0.1563:0.3767	.	371	O43506	ADA20_HUMAN	N	421	ENSP00000256389:K421N	ENSP00000256389:K421N	K	-	3	2	ADAM20	70060115	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.934000	0.00331	-1.236000	0.02542	-0.259000	0.10710	AAG	ADAM20	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134007		0.433	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM20	HGNC	protein_coding	OTTHUMT00000395004.2	-	0	51	0	C			70990362	-1	tier1	-	no_errors	ENST00000256389	ensembl	human	known	74_37	missense	73.08	21	57	SNP	0.000	A	A	70990362	C	A	70990362	3	1	118	1	0	0	0	0	1	0	0	0	242	680	24	3	1071	3	ADAM20	14	70990362	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	19750584	70990362	36359178	159	31355											
TTC7B	145567	genome.wustl.edu	37	chr14	91110514	91110514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggcatcgtcaccttgaagCtgaagagcttggcggacata	10	10	12	9	2	1	3	1	2	0	1	2	4	1	4	1	3	2	3	1	3	3	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr14:91110514C>A	ENST00000328459.6	-	15	1750	c.1629G>T	c.(1627-1629)caG>caT	p.Q543H	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.Q543H|RP11-1078H9.5_ENST00000553826.1_RNA|RP11-1078H9.5_ENST00000557007.1_RNA	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	543										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)				CACCTTGAAGCTGAAGAGCTT	0.507																																																	0													136	126	129					14																	91110514		2203	4300	6503	SO:0001583	missense	0			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.1629G>T	14.37:g.91110514C>A	ENSP00000336127:p.Gln543His		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q543H	ENST00000328459.6	37	c.1629	CCDS32140.1	14	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947747	0.73787	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972;ENST00000540938	T;T;T	0.79247	-1.25;-1.25;1.1	5.8	-5.65	0.02459	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	M	0.61703	1.905	0.54753	D	0.999988	D	0.67145	0.996	D	0.75484	0.986	D	0.83450	0.0048	10	0.59425	D	0.04	-16.28	17.7439	0.88414	0.0:0.6882:0.0:0.3118	.	543	Q86TV6	TTC7B_HUMAN	H	441;543;543;13;285	ENSP00000349564:Q543H;ENSP00000336127:Q543H;ENSP00000451440:Q13H	ENSP00000336127:Q543H	Q	-	3	2	TTC7B	90180267	0.620000	0.27068	0.888000	0.34837	0.921000	0.55340	-0.155000	0.10115	-1.074000	0.03132	-0.982000	0.02568	CAG	TTC7B	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000165914		0.507	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	-	0	48	0	C			91110514	-1	tier1	-	no_errors	ENST00000357056	ensembl	human	known	74_37	missense	56.25	28	36	SNP	0.987	A	A	91110514	C	A	91110514	3	1	118	1	0	0	0	0	1	0	0	0	16762	796	28	3	926	3	TTC7B	14	91110514	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	20120152	91110514	16239026	160	31356											
GJD2	57369	genome.wustl.edu	37	chr15	35044811	35044811	+	Silent	SNP	G	G	T	0	0	1	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	cgcacagccagcttgatcttGcgccatcccaggtggttgag	7	9	12	13	2	1	2	0	2	1	0	2	2	2	2	3	2	3	3	3	2	0	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr15:35044811G>T	ENST00000290374.4	-	2	1310	c.834C>A	c.(832-834)cgC>cgA	p.R278R	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	278					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCTTGATCTTGCGCCATCCCA	0.512																																																	0													128	106	113					15																	35044811		2201	4298	6499	SO:0001819	synonymous_variant	0			AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.834C>A	15.37:g.35044811G>T			Q2M241|Q9P2R0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36	p.R278	ENST00000290374.4	37	c.834	CCDS10040.1	15																																																																																			GJD2	-	NULL	ENSG00000159248		0.512	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD2	HGNC	protein_coding	OTTHUMT00000251875.2		0	60	0	G			35044811	-1			no_errors	ENST00000290374	ensembl	human	known	74_37	silent	5.08	56	3	SNP	1.000	T	T	35044811	G	T	35044811	2	4	118	1	0	0	0	0	0	0	0	1	6443	1306	46	3		3	GJD2	15	35044811	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09		35044811	67486581	161	31357											
PPP1R14D	54866	genome.wustl.edu	37	chr15	41108162	41108162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaagaacatcccttacctCtgtggggcgggggcagttcc	8	8	13	12	1	1	2	0	0	1	2	3	2	3	2	3	4	2	2	3	4	3	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr15:41108162C>T	ENST00000299174.5	-	3	437	c.370G>A	c.(370-372)Gag>Aag	p.E124K	PPP1R14D_ENST00000427255.2_Silent_p.Q162Q	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	124					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TCCCTTACCTCTGTGGGGCGG	0.567																																																	0													55	60	58					15																	41108162		2203	4300	6503	SO:0001583	missense	0			AK000258	CCDS10066.1, CCDS45230.1	15q11.2-q14	2012-04-17			ENSG00000166143	ENSG00000166143		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14953	protein-coding gene	gene with protein product	"gut and brain phosphatase inhibitor 1", "PKC-dependent PP1 inhibitory protein"	613256				11948623	Standard	NM_017726		Approved	CPI17-like, FLJ20251, GBPI-1, MGC119014, MGC119016	uc001zmz.3	Q9NXH3	OTTHUMG00000130064	ENST00000299174.5:c.370G>A	15.37:g.41108162C>T	ENSP00000299174:p.Glu124Lys		Q4V773	Missense_Mutation	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.E124K	ENST00000299174.5	37	c.370	CCDS10066.1	15	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111792	0.77210	.	.	ENSG00000166143	ENST00000299174	.	.	.	5.01	5.01	0.66863	.	0.156867	0.39985	N	0.001204	T	0.78591	0.4307	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.81353	-0.0971	8	0.87932	D	0	-15.5125	14.1526	0.65395	0.0:1.0:0.0:0.0	.	124	Q9NXH3	PP14D_HUMAN	K	124	.	ENSP00000299174:E124K	E	-	1	0	PPP1R14D	38895454	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.731000	0.55013	2.492000	0.84095	0.655000	0.94253	GAG	PPP1R14D	-	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	ENSG00000166143		0.567	PPP1R14D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14D	HGNC	protein_coding	OTTHUMT00000252355.2	-	0	35	0	C	NM_017726		41108162	-1	tier1	-	no_errors	ENST00000299174	ensembl	human	known	74_37	missense	42.86	24	18	SNP	1.000	T	T	41108162	C	T	41108162	3	4	118	1	0	0	0	0	1	0	0	0	12404	922	32	3	124	3	PPP1R14D	15	41108162	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	6063351	41108162	61423230	162	31358											
CDAN1	146059	genome.wustl.edu	37	chr15	43029216	43029216	+	Missense_Mutation	SNP	A	A	C	1	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	tgtcaccgctgttacctccgAaccctgggtgctgcgcgcga	5	9	12	15	5	1	0	1	0	0	0	2	2	2	0	4	1	4	3	4	1	2	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr15:43029216A>C	ENST00000356231.3	-	1	108	c.85T>G	c.(85-87)Tcg>Gcg	p.S29A		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	29					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GTTACCTCCGAACCCTGGGTG	0.692																																																	0													27	25	26					15																	43029216		2179	4255	6434	SO:0001583	missense	0			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.85T>G	15.37:g.43029216A>C	ENSP00000348564:p.Ser29Ala		Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	NULL	p.S29A	ENST00000356231.3	37	c.85	CCDS32209.1	15	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619726	0.46736	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86297	-2.1	4.42	3.27	0.37495	.	0.957554	0.08624	N	0.918097	T	0.77336	0.4115	N	0.19112	0.55	0.22827	N	0.998684	B	0.02656	0.0	B	0.04013	0.001	T	0.63152	-0.6701	10	0.30854	T	0.27	-0.7984	7.9919	0.30246	0.6992:0.3008:0.0:0.0	.	29	Q8IWY9	CDAN1_HUMAN	A	29	ENSP00000348564:S29A	ENSP00000267892:S29A	S	-	1	0	CDAN1	40816508	0.798000	0.28890	0.999000	0.59377	0.003000	0.03518	1.314000	0.33597	1.843000	0.53566	0.533000	0.62120	TCG	CDAN1	-	NULL	ENSG00000140326		0.692	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDAN1	HGNC	protein_coding	OTTHUMT00000431103.1	-	0	68	0	A	XM_085300		43029216	-1	tier1	-	no_errors	ENST00000356231	ensembl	human	known	74_37	missense	64.52	22	40	SNP	0.982	C	C	43029216	A	C	43029216	3	2	118	1	0	0	0	0	1	0	0	0	3061	246	9	4	3710	4	CDAN1	15	43029216	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	1921054	43029216	59502176	163	31359											
SLC12A1	6557	genome.wustl.edu	37	chr15	48577319	48577319	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaggaattagagagattAgaacaggagagactagcatt	17	8	12	4	0	1	5	1	0	0	5	1	9	1	7	0	2	2	1	0	2	5	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr15:48577319A>T	ENST00000558405.1	+	20	2516	c.2502A>T	c.(2500-2502)ttA>ttT	p.L834F	SLC12A1_ENST00000380993.3_Missense_Mutation_p.L834F|SLC12A1_ENST00000396577.3_Missense_Mutation_p.L834F			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	834					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)	TAGAGAGATTAGAACAGGAGA	0.348																																																	0													119	125	123					15																	48577319		2198	4297	6495	SO:0001583	missense	0				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.2502A>T	15.37:g.48577319A>T	ENSP00000453409:p.Leu834Phe		A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L834F	ENST00000558405.1	37	c.2502	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240184	0.39598	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.85258	-1.96;-1.96	5.37	-2.81	0.05805	.	0.220102	0.39210	N	0.001439	T	0.80859	0.4704	L	0.50333	1.59	0.42961	D	0.994406	P;P	0.44344	0.833;0.74	B;B	0.41988	0.372;0.243	T	0.79808	-0.1647	10	0.56958	D	0.05	.	16.7843	0.85570	0.1917:0.0:0.8083:0.0	.	834;834	E9PDW4;Q13621	.;S12A1_HUMAN	F	834	ENSP00000370381:L834F;ENSP00000379822:L834F	ENSP00000370381:L834F	L	+	3	2	SLC12A1	46364611	0.999000	0.42202	0.950000	0.38849	0.532000	0.34746	0.425000	0.21346	-0.407000	0.07576	-0.408000	0.06270	TTA	SLC12A1	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.348	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0	54	0	A			48577319	1	tier1	-	no_errors	ENST00000380993	ensembl	human	known	74_37	missense	76.09	11	35	SNP	0.989	T	T	48577319	A	T	48577319	3	4	118	1	0	0	0	0	1	0	0	0	14427	417	15	5	2680	5	SLC12A1	15	48577319	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	5548103	48577319	53954073	164	31360											
VPS13C	54832	genome.wustl.edu	37	chr15	62214804	62214804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccgttatttctgttgccGtgtcaacaccaagaaaccaa	11	13	6	11	2	2	1	1	0	1	1	3	1	3	1	4	0	3	2	4	0	5	4	rs200174382		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr15:62214804G>A	ENST00000261517.5	-	54	6840	c.6767C>T	c.(6766-6768)aCg>aTg	p.T2256M	VPS13C_ENST00000249837.3_Missense_Mutation_p.T2213M|VPS13C_ENST00000395898.3_Missense_Mutation_p.T2213M|VPS13C_ENST00000395896.4_Missense_Mutation_p.T2256M	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						TTCTGTTGCCGTGTCAACACC	0.358																																																	0													152	146	148					15																	62214804		2203	4300	6503	SO:0001583	missense	0			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.6767C>T	15.37:g.62214804G>A	ENSP00000261517:p.Thr2256Met			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.T2256M	ENST00000261517.5	37	c.6767	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	6.063	0.379986	0.11466	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.41065	1.01;1.01;1.01	5.31	-1.28	0.09318	.	0.791161	0.12638	N	0.451526	T	0.11965	0.0291	N	0.00358	-1.6	0.09310	N	1	B;B;B;B	0.12013	0.002;0.002;0.003;0.005	B;B;B;B	0.14023	0.01;0.01;0.004;0.001	T	0.31943	-0.9925	10	0.45353	T	0.12	.	9.9093	0.41394	0.6198:0.0:0.3802:0.0	.	2213;2256;2213;2256	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	M	2213;2256;2256;2256	ENSP00000249837:T2213M;ENSP00000261517:T2256M;ENSP00000379233:T2256M	ENSP00000249837:T2213M	T	-	2	0	VPS13C	60002096	0.001000	0.12720	0.242000	0.24170	0.327000	0.28475	0.555000	0.23422	-0.402000	0.07633	-1.043000	0.02367	ACG	VPS13C	-	NULL	ENSG00000129003		0.358	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1		0	31	0	G	NM_017684		62214804	-1			no_errors	ENST00000261517	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.151	A	A	62214804	G	A	62214804	3	1	118	1	0	0	0	0	1	0	0	0	17240	1145	40	1	4650	1	VPS13C	15	62214804	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	13637485	62214804	40316588	165	31361											
USP3	9960	genome.wustl.edu	37	chr15	63866552	63866552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatattccaagtcagttcaGaagtaagcgctctaagaatc	15	10	8	8	1	3	3	2	0	1	3	5	3	4	3	1	0	1	3	1	0	6	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr15:63866552G>C	ENST00000380324.3	+	11	1175	c.1046G>C	c.(1045-1047)aGa>aCa	p.R349T	USP3_ENST00000268049.7_Missense_Mutation_p.R327T|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.R260T|USP3_ENST00000539772.1_Missense_Mutation_p.R100T|USP3_ENST00000540797.1_Missense_Mutation_p.R305T|USP3_ENST00000558285.1_Missense_Mutation_p.R332T	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	349	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)		AGTCAGTTCAGAAGTAAGCGC	0.308																																																	0													100	101	100					15																	63866552		2203	4300	6503	SO:0001583	missense	0			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.1046G>C	15.37:g.63866552G>C	ENSP00000369681:p.Arg349Thr		B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.R349T	ENST00000380324.3	37	c.1046	CCDS32265.1	15	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401925	0.83120	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	T;T;T;T	0.29917	2.07;2.18;2.28;1.55	5.98	5.07	0.68467	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.041366	0.85682	D	0.000000	T	0.33990	0.0882	L	0.35793	1.09	0.48087	D	0.999586	P;P;D;D	0.53462	0.905;0.922;0.96;0.96	P;P;P;P	0.51833	0.553;0.569;0.681;0.681	T	0.03761	-1.1006	10	0.16420	T	0.52	.	15.1806	0.72956	0.0673:0.0:0.9327:0.0	.	305;305;327;349	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	T	305;349;327;100;264;180	ENSP00000445828:R305T;ENSP00000369681:R349T;ENSP00000268049:R327T;ENSP00000445642:R100T	ENSP00000268049:R327T	R	+	2	0	USP3	61653605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	1.545000	0.49373	0.591000	0.81541	AGA	USP3	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000140455		0.308	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP3	HGNC	protein_coding	OTTHUMT00000417773.1	-	0	29	0	G			63866552	1	tier1	-	no_errors	ENST00000380324	ensembl	human	known	74_37	missense	23.81	32	10	SNP	1.000	C	C	63866552	G	C	63866552	3	2	118	1	0	0	0	0	1	0	0	0	17109	942	33	5	1088	5	USP3	15	63866552	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	1651748	63866552	38664840	166	31362											
AKAP13	11214	genome.wustl.edu	37	chr15	86269664	86269664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaagcagttcttctcactGacattttagttttccttcaa	9	18	4	10	0	4	1	3	1	2	0	6	1	5	1	1	0	1	3	1	0	3	8			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr15:86269664G>A	ENST00000394518.2	+	27	6864	c.6769G>A	c.(6769-6771)Gac>Aac	p.D2257N	AKAP13_ENST00000394510.2_Missense_Mutation_p.D502N|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.D2261N|RP11-158M2.2_ENST00000561417.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2257	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						TCTTCTCACTGACATTTTAGT	0.338																																					Melanoma(94;603 1453 3280 32295 32951)												0													187	188	187					15																	86269664		2202	4298	6500	SO:0001583	missense	0			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.6769G>A	15.37:g.86269664G>A	ENSP00000378026:p.Asp2257Asn		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.D2261N	ENST00000394518.2	37	c.6781	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.245089	0.95272	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.73152	-0.72;-0.72;-0.72	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.83608	0.5291	M	0.76838	2.35	0.80722	D	1	P;P;P	0.51147	0.929;0.942;0.929	P;P;P	0.62491	0.843;0.903;0.843	D	0.85374	0.1115	9	0.66056	D	0.02	.	17.9585	0.89076	0.0:0.0:1.0:0.0	.	2237;2257;2261	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	N	337;2261;2257;2260;2236;502	ENSP00000354718:D2261N;ENSP00000378026:D2257N;ENSP00000378018:D502N	ENSP00000354718:D2261N	D	+	1	0	AKAP13	84070668	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.118000	0.94355	2.484000	0.83849	0.484000	0.47621	GAC	AKAP13	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000170776		0.338	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0	49	0	G	NM_007200		86269664	1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	41.82	32	23	SNP	1.000	A	A	86269664	G	A	86269664	3	1	118	1	0	0	0	0	1	0	0	0	449	1290	45	3	6941	3	AKAP13	15	86269664	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	22403112	86269664	16261728	167	31363											
ACAN	176	genome.wustl.edu	37	chr15	89400157	89400157	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgcccctggagtagaggaGatcagcgggcttccttctgg	7	9	14	11	1	2	2	1	0	1	2	3	4	3	3	3	4	2	2	3	4	1	3	rs201505307		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr15:89400157G>C	ENST00000561243.1	+	11	4341	c.4341G>C	c.(4339-4341)gaG>gaC	p.E1447D	ACAN_ENST00000352105.7_Missense_Mutation_p.E1447D|ACAN_ENST00000439576.2_Missense_Mutation_p.E1447D|ACAN_ENST00000559004.1_Missense_Mutation_p.E1447D			P16112	PGCA_HUMAN	aggrecan	1450	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGTAGAGGAGATCAGCGGGC	0.512																																																	0													110	111	111					15																	89400157		1841	4092	5933	SO:0001583	missense	0			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.4341G>C	15.37:g.89400157G>C	ENSP00000453342:p.Glu1447Asp		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.E1447D	ENST00000561243.1	37	c.4341	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	-	1.549	-0.539725	0.04053	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.92647	-3.08;-3.08	2.63	-5.26	0.02772	.	.	.	.	.	T	0.61375	0.2342	N	0.00313	-1.665	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.64305	-0.6439	9	0.02654	T	1	.	1.407	0.02283	0.2552:0.163:0.3826:0.1992	.	1447;1447	E7ENV9;E7EX88	.;.	D	1447;1447;1333	ENSP00000387356:E1447D;ENSP00000341615:E1447D	ENSP00000268134:E1333D	E	+	3	2	ACAN	87201161	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.837000	0.00029	-1.573000	0.01659	-0.661000	0.03856	GAG	ACAN	-	NULL	ENSG00000157766		0.512	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	-	0	79	0	G	NM_001135		89400157	1	tier1	rs201505307	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	23.88	51	16	SNP	0.000	C	C	89400157	G	C	89400157	3	2	118	1	0	0	0	0	1	0	0	0	117	933	33	5	4383	5	ACAN	15	89400157	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	3130493	89400157	13131235	168	31364											
C15orf42	90381	genome.wustl.edu	37	chr15	90163009	90163009	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacattctgcctccttctaTtctgtgtctcagccgaagtc	7	14	6	14	1	4	0	1	0	4	0	7	1	5	0	3	0	2	0	3	0	2	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr15:90163009T>C	ENST00000268138.7	+	18	3195	c.3090T>C	c.(3088-3090)taT>taC	p.Y1030Y	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.Y1029Y			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1030					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)										CCTCCTTCTATTCTGTGTCTC	0.463																																																	0													129	124	126					15																	90163009		1951	4150	6101	SO:0001819	synonymous_variant	0			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.3090T>C	15.37:g.90163009T>C			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	NULL	p.Y1030	ENST00000268138.7	37	c.3090	CCDS10352.2	15																																																																																			TICRR	-	NULL	ENSG00000140534		0.463	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	-	0	56	0	T	NM_152259		90163009	1	tier1	-	no_errors	ENST00000268138	ensembl	human	known	74_37	silent	46.75	41	36	SNP	0.345	C	C	90163009	T	C	90163009	2	2	118	1	0	0	0	0	0	0	0	1	1801	1500	52	4		4	C15orf42	15	90163009	Silent	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	762852	90163009	12368383	169	31365											
PRSS21	10942	genome.wustl.edu	37	chr16	2871496	2871496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatatcagccaccactttGagtggatccagaagctgatg	12	9	9	11	0	1	3	1	2	0	1	2	4	2	4	4	1	2	1	4	1	3	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr16:2871496G>C	ENST00000005995.3	+	6	877	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	PRSS21_ENST00000455114.1_Missense_Mutation_p.E277Q|PRSS21_ENST00000450020.3_Missense_Mutation_p.E265Q|PRSS21_ENST00000575739.1_Intron			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	279	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CCACCACTTTGAGTGGATCCA	0.587																																																	0													72	75	74					16																	2871496		2198	4300	6498	SO:0001583	missense	0			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"Serine peptidases / Serine peptidases"	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.835G>C	16.37:g.2871496G>C	ENSP00000005995:p.Glu279Gln		Q9NS34|Q9P2V6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.E279Q	ENST00000005995.3	37	c.835	CCDS10478.1	16	.	.	.	.	.	.	.	.	.	.	g	3.081	-0.189016	0.06299	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	D;D;D	0.81996	-1.56;-1.56;-1.56	3.75	-7.5	0.01351	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.69024	0.3065	L	0.35723	1.085	0.09310	N	1	B;B;B	0.18166	0.026;0.021;0.021	B;B;B	0.17979	0.02;0.012;0.012	T	0.52193	-0.8608	9	0.16896	T	0.51	.	9.8724	0.41182	0.1597:0.6303:0.2101:0.0	.	279;277;265	Q9Y6M0;Q9Y6M0-2;Q9Y6M0-3	TEST_HUMAN;.;.	Q	277;265;279	ENSP00000400632:E277Q;ENSP00000407741:E265Q;ENSP00000005995:E279Q	ENSP00000005995:E279Q	E	+	1	0	PRSS21	2811497	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.069000	0.01381	-2.199000	0.00748	-0.321000	0.08615	GAG	PRSS21	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000007038		0.587	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS21	HGNC	protein_coding	OTTHUMT00000250910.1	-	0	87	0	G	NM_006799		2871496	1	tier1	-	no_errors	ENST00000005995	ensembl	human	known	74_37	missense	17.95	64	14	SNP	0.000	C	C	2871496	G	C	2871496	3	2	118	1	0	0	0	0	1	0	0	0	12660	1291	45	5	857	5	PRSS21	16	2871496	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09		2871496	87483257	170	31366											
TIGD7	91151	genome.wustl.edu	37	chr16	3348998	3348998	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagaagttgaaggcccactGaaggagtccttaatattatg	13	10	10	8	0	0	3	0	2	0	1	1	4	1	4	3	2	0	1	3	2	6	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr16:3348998G>A	ENST00000396862.1	-	2	3445	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Silent_p.F539F	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	539						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AAGGCCCACTGAAGGAGTCCT	0.358																																																	0													54	54	54					16																	3348998		2197	4300	6497	SO:0001819	synonymous_variant	0			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1617C>T	16.37:g.3348998G>A			Q9BXZ0	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.F539	ENST00000396862.1	37	c.1617	CCDS10500.1	16																																																																																			TIGD7	-	NULL	ENSG00000140993		0.358	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	-	0	47	0	G	NM_033208		3348998	-1	tier1	-	no_errors	ENST00000268674	ensembl	human	known	74_37	silent	58.06	26	36	SNP	0.899	A	A	3348998	G	A	3348998	2	1	118	1	0	0	0	0	0	0	0	1	15948	1281	45	3		3	TIGD7	16	3348998	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	477502	3348998	87005755	171	31367											
PPL	5493	genome.wustl.edu	37	chr16	4942146	4942146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcctgggagggcctggatGaaggcttcgccctcagccgt	5	8	15	13	2	1	1	1	1	0	0	2	3	1	3	4	4	2	1	4	4	1	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr16:4942146G>C	ENST00000345988.2	-	15	1808	c.1719C>G	c.(1717-1719)ttC>ttG	p.F573L	PPL_ENST00000590782.2_Missense_Mutation_p.F571L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	573					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						GGGCCTGGATGAAGGCTTCGC	0.617																																																	0													63	59	60					16																	4942146		2197	4300	6497	SO:0001583	missense	0			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.1719C>G	16.37:g.4942146G>C	ENSP00000340510:p.Phe573Leu		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.F573L	ENST00000345988.2	37	c.1719	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307507	0.23821	.	.	ENSG00000118898	ENST00000345988	T	0.31247	1.5	5.35	-1.35	0.09114	.	0.000000	0.85682	D	0.000000	T	0.26774	0.0655	L	0.60455	1.87	0.35062	D	0.761706	B	0.13145	0.007	B	0.12156	0.007	T	0.21965	-1.0230	10	0.56958	D	0.05	.	10.7408	0.46152	0.4708:0.0:0.5292:0.0	.	573	O60437	PEPL_HUMAN	L	573	ENSP00000340510:F573L	ENSP00000340510:F573L	F	-	3	2	PPL	4882147	0.015000	0.18098	0.003000	0.11579	0.279000	0.26890	-0.224000	0.09164	-0.222000	0.09958	0.549000	0.68633	TTC	PPL	-	smart_Spectrin/alpha-actinin	ENSG00000118898		0.617	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	-	0	56	0	G	NM_002705		4942146	-1	tier1	-	no_errors	ENST00000345988	ensembl	human	known	74_37	missense	29.85	47	20	SNP	0.175	C	C	4942146	G	C	4942146	3	2	118	1	0	0	0	0	1	0	0	0	12376	1281	45	5	3583	5	PPL	16	4942146	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	1593148	4942146	85412607	172	31368											
DNAH3	55567	genome.wustl.edu	37	chr16	21152626	21152626	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtgatatcttacctagtGgaatcctctttgtttctgga	9	16	8	8	0	3	1	0	1	3	0	4	3	4	3	2	2	1	1	2	2	4	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr16:21152626G>T	ENST00000261383.3	-	4	515	c.516C>A	c.(514-516)tcC>tcA	p.S172S	DNAH3_ENST00000415178.1_Silent_p.S172S|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	172	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTACCTAGTGGAATCCTCTT	0.463																																																	0													131	96	108					16																	21152626		2199	4300	6499	SO:0001819	synonymous_variant	0			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.516C>A	16.37:g.21152626G>T			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.S172	ENST00000261383.3	37	c.516	CCDS10594.1	16																																																																																			DNAH3	-	NULL	ENSG00000158486		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	74	0	G	NM_017539		21152626	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.000	T	T	21152626	G	T	21152626	2	4	118	1	0	0	0	0	0	0	0	1	4617	1335	47	3		3	DNAH3	16	21152626	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	16210480	21152626	69202127	173	31369											
USP31	57478	genome.wustl.edu	37	chr16	23102050	23102050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcccctgctttgctgctGtttgtgtaggagaagacagt	6	16	11	8	0	0	2	0	0	0	2	1	3	1	2	2	1	3	5	2	1	2	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr16:23102050G>T	ENST00000219689.7	-	7	1309	c.1310C>A	c.(1309-1311)aCa>aAa	p.T437K		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTTTGCTGCTGTTTGTGTAGG	0.433																																																	0													125	106	113					16																	23102050		2197	4300	6497	SO:0001583	missense	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1310C>A	16.37:g.23102050G>T	ENSP00000219689:p.Thr437Lys		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.T437K	ENST00000219689.7	37	c.1310	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	3.292	-0.144761	0.06627	.	.	ENSG00000103404	ENST00000219689	T	0.06933	3.24	5.83	4.88	0.63580	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.795500	0.02050	N	0.050018	T	0.05731	0.0150	N	0.10972	0.075	0.44995	D	0.99801	B	0.27625	0.183	B	0.25506	0.061	T	0.42172	-0.9467	10	0.05525	T	0.97	-0.0075	10.4373	0.44443	0.0747:0.1436:0.7817:0.0	.	437	Q70CQ4	UBP31_HUMAN	K	437	ENSP00000219689:T437K	ENSP00000219689:T437K	T	-	2	0	USP31	23009551	0.939000	0.31865	0.040000	0.18447	0.827000	0.46813	2.858000	0.48356	1.476000	0.48215	-0.145000	0.13849	ACA	USP31	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000103404		0.433	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1		0	86	0	G	NM_020718		23102050	-1			no_errors	ENST00000219689	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.044	T	T	23102050	G	T	23102050	3	4	118	1	0	0	0	0	1	0	0	0	17111	1377	48	3	2788	3	USP31	16	23102050	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	1949424	23102050	67252703	174	31370											
IL4R	3566	genome.wustl.edu	37	chr16	27357918	27357918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acctatgcagtcaacatttgGagtgaaaacgacccggcaga	14	7	10	10	2	1	2	1	1	0	1	1	4	1	3	2	2	3	2	2	2	4	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr16:27357918G>C	ENST00000395762.2	+	6	751	c.492G>C	c.(490-492)tgG>tgC	p.W164C	IL4R_ENST00000543915.2_Missense_Mutation_p.W164C|IL4R_ENST00000380922.3_Missense_Mutation_p.W149C|IL4R_ENST00000170630.2_Missense_Mutation_p.W164C|IL4R_ENST00000449195.1_Missense_Mutation_p.W164C	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	164	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						TCAACATTTGGAGTGAAAACG	0.532																																																	0													124	120	122					16																	27357918		2197	4300	6497	SO:0001583	missense	0			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.492G>C	16.37:g.27357918G>C	ENSP00000379111:p.Trp164Cys		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.W164C	ENST00000395762.2	37	c.492	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308667	0.23821	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	3.39	-6.77	0.01727	Fibronectin, type III (3);Immunoglobulin-like fold (1);	3.536260	0.00669	N	0.000624	T	0.53965	0.1829	L	0.34521	1.04	0.09310	N	0.999993	P;D;P	0.52996	0.945;0.957;0.933	B;P;P	0.45881	0.393;0.496;0.496	T	0.58532	-0.7620	10	0.39692	T	0.17	-14.5819	4.4438	0.11588	0.1305:0.4355:0.3327:0.1013	.	149;164;164	B4E076;P24394;P24394-2	.;IL4RA_HUMAN;.	C	164;164;164;164;149;164	ENSP00000410322:W164C;ENSP00000379111:W164C;ENSP00000441667:W164C;ENSP00000370309:W149C;ENSP00000170630:W164C	ENSP00000170630:W164C	W	+	3	0	IL4R	27265419	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-1.546000	0.02188	-1.640000	0.01525	-0.499000	0.04595	TGG	IL4R	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000077238		0.532	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	-	0	74	0	G			27357918	1	tier1	-	no_errors	ENST00000170630	ensembl	human	known	74_37	missense	33.33	36	18	SNP	0.001	C	C	27357918	G	C	27357918	3	2	118	1	0	0	0	0	1	0	0	0	7725	1183	41	5	506	5	IL4R	16	27357918	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	4255868	27357918	62996835	175	31371											
SEPHS2	22928	genome.wustl.edu	37	chr16	30456364	30456364	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatttggttggcatactaCagtggcaactccaccgatta	10	12	8	11	1	1	0	1	0	0	0	2	1	2	0	2	3	3	3	2	3	4	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr16:30456364C>G	ENST00000478753.2	-	1	1138	c.685G>C	c.(685-687)Gta>Cta	p.V229L	SEPHS2_ENST00000500504.2_Missense_Mutation_p.V229L|SEPHS2_ENST00000542752.1_Missense_Mutation_p.V172L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	229					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TGGCATACTACAGTGGCAACT	0.552																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)												0													99	100	99					16																	30456364		2126	4240	6366	SO:0001583	missense	0			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.685G>C	16.37:g.30456364C>G	ENSP00000418669:p.Val229Leu		Q9BUQ2	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.V172L	ENST00000478753.2	37	c.514		16	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187249	0.38609	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.44881	0.91;0.93;0.92	5.64	5.64	0.86602	PurM, N-terminal-like (1);	0.124166	0.52532	D	0.000064	T	0.37571	0.1008	L	0.38175	1.15	0.80722	D	1	B;B	0.27498	0.18;0.02	B;B	0.24701	0.042;0.055	T	0.17440	-1.0369	10	0.62326	D	0.03	-30.025	17.5809	0.87968	0.0:1.0:0.0:0.0	.	229;172	Q99611;F5H8F9	SPS2_HUMAN;.	L	229;172;180;229	ENSP00000418669:V229L;ENSP00000443601:V172L;ENSP00000426234:V229L	ENSP00000390233:V180L	V	-	1	0	SEPHS2	30363865	0.990000	0.36364	0.999000	0.59377	0.449000	0.32228	3.040000	0.49799	2.828000	0.97474	0.655000	0.94253	GTA	SEPHS2	-	superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	ENSG00000179918		0.552	SEPHS2-001	KNOWN	basic|seleno	protein_coding	SEPHS2	HGNC	protein_coding	OTTHUMT00000109640.11	-	0	61	0	C	NM_012248		30456364	-1	tier1	-	no_errors	ENST00000542752	ensembl	human	known	74_37	missense	39.66	35	23	SNP	1.000	G	G	30456364	C	G	30456364	3	3	118	1	0	0	0	0	1	0	0	0	14100	478	17	5	665	5	SEPHS2	16	30456364	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	3098446	30456364	59898389	176	31372											
PRSS53	339105	genome.wustl.edu	37	chr16	31098169	31098169	+	Missense_Mutation	SNP	T	T	G	0	1	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	cagggctgagtccctcacgcTgcagagaacccaggaccact	10	5	11	15	1	1	2	1	1	0	1	2	4	2	3	3	2	2	3	3	2	1	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr16:31098169T>G	ENST00000280606.6	-	4	446	c.293A>C	c.(292-294)cAg>cCg	p.Q98P		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	98	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						TCCCTCACGCTGCAGAGAACC	0.622																																																	0													41	44	43					16																	31098169		2070	4208	6278	SO:0001583	missense	0				CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"Serine peptidases / Serine peptidases"	34407	protein-coding gene	gene with protein product	"polyserase 3"	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.293A>C	16.37:g.31098169T>G	ENSP00000280606:p.Gln98Pro			Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q98P	ENST00000280606.6	37	c.293	CCDS42153.1	16	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818014	0.32145	.	.	ENSG00000151006	ENST00000280606	D	0.81499	-1.5	5.75	2.1	0.27182	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.529463	0.14076	U	0.343097	T	0.70988	0.3287	L	0.38692	1.165	0.26490	N	0.974966	B	0.24576	0.106	B	0.34346	0.18	T	0.60642	-0.7223	10	0.38643	T	0.18	.	4.477	0.11748	0.1438:0.1597:0.0:0.6965	.	98	Q2L4Q9	PRS53_HUMAN	P	98	ENSP00000280606:Q98P	ENSP00000280606:Q98P	Q	-	2	0	PRSS53	31005670	0.966000	0.33281	0.794000	0.32065	0.488000	0.33401	0.697000	0.25556	0.447000	0.26695	-0.274000	0.10170	CAG	PRSS53	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000151006		0.622	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS53	HGNC	protein_coding	OTTHUMT00000108580.4	-	0	43	0	T	NM_001081268		31098169	-1	tier1	-	no_errors	ENST00000280606	ensembl	human	known	74_37	missense	36.73	31	18	SNP	0.944	G	G	31098169	T	G	31098169	3	3	118	1	0	0	0	0	1	0	0	0	12674	1580	55	4	1400	4	PRSS53	16	31098169	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	641805	31098169	59256584	177	31373											
TMCO7	79613	genome.wustl.edu	37	chr16	68900993	68900993	+	Silent	SNP	T	T	C	0	1	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	ttttctcagtcctgcacagaTgtgaagacacagatgaggtg	11	11	11	8	0	1	5	1	2	1	3	3	5	2	5	1	1	1	1	1	1	1	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr16:68900993T>C	ENST00000261778.1	+	4	876	c.864T>C	c.(862-864)gaT>gaC	p.D288D		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	288						integral component of membrane (GO:0016021)											CCTGCACAGATGTGAAGACAC	0.473																																																	0													92	91	91					16																	68900993		1907	4127	6034	SO:0001819	synonymous_variant	0				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.864T>C	16.37:g.68900993T>C			Q569F9|Q9H9K1	Silent	SNP	pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.D288	ENST00000261778.1	37	c.864	CCDS45516.1	16																																																																																			TANGO6	-	NULL	ENSG00000103047		0.473	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	HGNC	protein_coding	OTTHUMT00000433471.2	-	0	50	0	T	XM_928235.2		68900993	1	tier1	-	no_errors	ENST00000261778	ensembl	human	known	74_37	silent	53.33	35	40	SNP	0.261	C	C	68900993	T	C	68900993	2	2	118	1	0	0	0	0	0	0	0	1	16048	1461	51	4		4	TMCO7	16	68900993	Silent	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	37802824	68900993	21453760	178	31374											
ADAD2	161931	genome.wustl.edu	37	chr16	84228699	84228699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcctgacccatgagcagcGctgcgcagcgttggtgagcg	7	7	14	13	4	0	3	0	3	0	0	1	3	1	3	2	1	5	4	2	1	0	1	rs568492054		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr16:84228699G>A	ENST00000315906.5	+	4	684	c.632G>A	c.(631-633)cGc>cAc	p.R211H	ADAD2_ENST00000268624.3_Missense_Mutation_p.R283H|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	211					RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CATGAGCAGCGCTGCGCAGCG	0.647													G|||	1	0.000199681	0	0	5008	,	,		17151	0.001		0	False		,,,				2504	0																0													46	48	47					16																	84228699		2200	4300	6500	SO:0001583	missense	0			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.632G>A	16.37:g.84228699G>A	ENSP00000325153:p.Arg211His		B2RCL6|Q8NA94	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.R283H	ENST00000315906.5	37	c.848	CCDS45536.1	16	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544673	0.45280	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.19532	2.14;2.18	4.57	4.57	0.56435	.	0.222920	0.31061	N	0.008323	T	0.33352	0.0860	L	0.49126	1.545	0.36440	D	0.865425	D;D	0.69078	0.992;0.997	P;P	0.56343	0.551;0.796	T	0.38112	-0.9676	10	0.66056	D	0.02	-30.0194	13.2049	0.59790	0.0:0.0:1.0:0.0	.	211;283	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	H	211;283	ENSP00000325153:R211H;ENSP00000268624:R283H	ENSP00000268624:R283H	R	+	2	0	ADAD2	82786200	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	2.808000	0.47963	2.250000	0.74265	0.650000	0.86243	CGC	ADAD2	-	smart_A_deamin	ENSG00000140955		0.647	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	HGNC	protein_coding	OTTHUMT00000433385.1	-	0	99	0	G	NM_139174		84228699	1	tier1	-	no_errors	ENST00000268624	ensembl	human	known	74_37	missense	13.79	100	16	SNP	1.000	A	A	84228699	G	A	84228699	3	1	118	1	0	0	0	0	1	0	0	0	232	1087	38	1	866	1	ADAD2	16	84228699	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	15327706	84228699	6126054	179	31375											
NUP88	4927	genome.wustl.edu	37	chr17	5289551	5289551	+	Missense_Mutation	SNP	T	T	C	0	1	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	agtttacatgattgcggataTcattgatttgcttcaccatt	10	17	7	7	1	2	2	2	2	0	0	2	3	2	3	1	1	3	2	1	1	2	8			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr17:5289551T>C	ENST00000573584.1	-	17	2710	c.2201A>G	c.(2200-2202)gAt>gGt	p.D734G	NUP88_ENST00000573169.1_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	734					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						ATTGCGGATATCATTGATTTG	0.358																																																	0													266	242	250					17																	5289551		2203	4300	6503	SO:0001583	missense	0			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.2201A>G	17.37:g.5289551T>C	ENSP00000458954:p.Asp734Gly		D3DTM2|Q9BWE5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup88	p.D734G	ENST00000573584.1	37	c.2201	CCDS11070.1	17	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294498	0.81025	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.94	4.94	0.65067	.	0.105124	0.64402	D	0.000007	T	0.61553	0.2356	L	0.57536	1.79	0.54753	D	0.999981	P;P	0.47253	0.81;0.892	P;P	0.49085	0.6;0.492	T	0.60850	-0.7181	9	0.33940	T	0.23	-14.977	14.243	0.65969	0.0:0.0:0.0:1.0	.	619;734	B4DP20;Q99567	.;NUP88_HUMAN	G	734;619	.	ENSP00000225696:D734G	D	-	2	0	NUP88	5230275	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	5.026000	0.64103	2.207000	0.71202	0.533000	0.62120	GAT	NUP88	-	pfam_Nucleoporin_Nup88	ENSG00000108559		0.358	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP88	HGNC	protein_coding	OTTHUMT00000216918.3	-	0	98	0	T	NM_002532		5289551	-1	tier1	-	no_errors	ENST00000573584	ensembl	human	known	74_37	missense	34.62	51	27	SNP	1.000	C	C	5289551	T	C	5289551	3	2	118	1	0	0	0	0	1	0	0	0	10810	1435	50	4	28	4	NUP88	17	5289551	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09		5289551	75905659	180	31376											
TP53	7157	genome.wustl.edu	37	chr17	7578528	7578528	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtcttggccagttggcaAaacatcttgttgagggcagg	9	10	14	8	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr17:7578528A>T	ENST00000269305.4	-	5	591	c.402T>A	c.(400-402)ttT>ttA	p.F134L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.F134L|TP53_ENST00000455263.2_Missense_Mutation_p.F134L|TP53_ENST00000420246.2_Missense_Mutation_p.F134L|TP53_ENST00000413465.2_Missense_Mutation_p.F134L|TP53_ENST00000359597.4_Missense_Mutation_p.F134L	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	134	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.F134L(3)|p.M133fs*36(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.?(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.F134F(1)|p.S127_Q136del10(1)|p.C135fs*36(1)|p.C135T(1)|p.F134fs*14(1)|p.M133fs*13(1)|p.M40fs*36(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(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)	CCAGTTGGCAAAACATCTTGT	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"	30	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Missense(4)|Deletion - In frame(3)|Insertion - Frameshift(2)|Complex - deletion inframe(1)|Unknown(1)|Substitution - coding silent(1)	breast(10)|bone(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|urinary_tract(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)											48	49	49					17																	7578528		2203	4300	6503	SO:0001583	missense	0	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.402T>A	17.37:g.7578528A>T	ENSP00000269305:p.Phe134Leu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.F134L	ENST00000269305.4	37	c.402	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638381	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	5.48	-2.25	0.06888	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.054280	0.64402	D	0.000001	D	0.99732	0.9895	M	0.83483	2.645	0.52501	D	0.999957	D;D;D;D;D;D;D	0.89917	0.998;0.994;0.992;0.987;1.0;0.999;1.0	D;D;D;P;D;D;D	0.83275	0.931;0.98;0.95;0.765;0.996;0.993;0.971	D	0.97988	1.0353	10	0.87932	D	0	-24.5315	15.012	0.71557	0.2332:0.0:0.7668:0.0	.	95;134;134;41;134;134;134	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	134;134;134;134;134;134;123;41;2;41;2;134	ENSP00000410739:F134L;ENSP00000352610:F134L;ENSP00000269305:F134L;ENSP00000398846:F134L;ENSP00000391127:F134L;ENSP00000391478:F134L;ENSP00000425104:F2L;ENSP00000423862:F41L;ENSP00000424104:F134L	ENSP00000269305:F134L	F	-	3	2	TP53	7519253	1.000000	0.71417	0.990000	0.47175	0.793000	0.44817	1.912000	0.39946	-0.326000	0.08564	-0.256000	0.11100	TTT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	43	0	A	NM_000546		7578528	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	73.47	13	36	SNP	1.000	T	T	7578528	A	T	7578528	3	4	118	1	0	0	0	0	1	0	0	0	16429	11	1	5	896	5	TP53	17	7578528	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	2288977	7578528	73616682	181	31377											
DNAH9	1770	genome.wustl.edu	37	chr17	11659960	11659960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttgagatcagccacctgCgcacagccactccagcaact	10	8	7	16	1	2	1	1	1	1	1	3	2	3	1	4	0	5	2	4	0	1	1	rs139421775		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr17:11659960C>G	ENST00000262442.4	+	34	6882	c.6814C>G	c.(6814-6816)Cgc>Ggc	p.R2272G	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2272G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2272	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGCCACCTGCGCACAGCCAC	0.552																																																	0													110	106	108					17																	11659960		2203	4300	6503	SO:0001583	missense	0			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.6814C>G	17.37:g.11659960C>G	ENSP00000262442:p.Arg2272Gly		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R2272G	ENST00000262442.4	37	c.6814	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448563	0.63178	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.26373	1.74;1.74	5.89	4.92	0.64577	ATPase, AAA+ type, core (1);	0.321785	0.34338	N	0.004059	T	0.50274	0.1606	M	0.81942	2.565	0.80722	D	1	P	0.46220	0.874	P	0.58721	0.844	T	0.55805	-0.8083	10	0.66056	D	0.02	.	14.9471	0.71042	0.0:0.9318:0.0:0.0682	.	2272	Q9NYC9	DYH9_HUMAN	G	2272;2272;854	ENSP00000262442:R2272G;ENSP00000414874:R2272G	ENSP00000262442:R2272G	R	+	1	0	DNAH9	11600685	0.437000	0.25593	1.000000	0.80357	0.991000	0.79684	0.675000	0.25232	1.503000	0.48686	-0.225000	0.12378	CGC	DNAH9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000007174		0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	48	0	C	NM_001372		11659960	1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	64.15	19	34	SNP	1.000	G	G	11659960	C	G	11659960	3	3	118	1	0	0	0	0	1	0	0	0	4622	768	27	5	6948	5	DNAH9	17	11659960	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	4081432	11659960	69535250	182	31378											
NCOR1	9611	genome.wustl.edu	37	chr17	16004598	16004598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctccatccacatcctcatCagcgctgcacgtggcactgg	7	9	8	17	2	3	0	2	0	1	0	6	0	5	0	3	2	2	3	3	2	0	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr17:16004598C>T	ENST00000268712.3	-	20	2913	c.2656G>A	c.(2656-2658)Gat>Aat	p.D886N	NCOR1_ENST00000395848.1_Missense_Mutation_p.D793N|NCOR1_ENST00000395851.1_Missense_Mutation_p.D902N|NCOR1_ENST00000583226.1_5'Flank|RNU6-314P_ENST00000516574.1_RNA	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	886					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)		ACATCCTCATCAGCGCTGCAC	0.547																																																	0													154	144	148					17																	16004598		2203	4300	6503	SO:0001583	missense	0			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.2656G>A	17.37:g.16004598C>T	ENSP00000268712:p.Asp886Asn		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.D886N	ENST00000268712.3	37	c.2656	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.250934	0.95305	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.48201	0.82;0.82;0.82	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	L	0.45352	1.415	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.87578	0.998;0.989;0.995	T	0.64914	-0.6295	10	0.72032	D	0.01	-16.089	18.423	0.90598	0.0:1.0:0.0:0.0	.	793;886;902	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	N	886;902;793;793	ENSP00000268712:D886N;ENSP00000379192:D902N;ENSP00000379189:D793N	ENSP00000268712:D886N	D	-	1	0	NCOR1	15945323	1.000000	0.71417	0.845000	0.33349	0.980000	0.70556	6.451000	0.73481	2.607000	0.88179	0.650000	0.86243	GAT	NCOR1	-	NULL	ENSG00000141027		0.547	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	-	0	85	0	C	NM_006311		16004598	-1	tier1	-	no_errors	ENST00000268712	ensembl	human	known	74_37	missense	39.02	50	32	SNP	1.000	T	T	16004598	C	T	16004598	3	4	118	1	0	0	0	0	1	0	0	0	10274	826	29	3	4774	3	NCOR1	17	16004598	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	4344638	16004598	65190612	183	31379											
LIG3	3980	genome.wustl.edu	37	chr17	33318128	33318128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatatggcacgggacctaGagcaggtcagaggaacggga	13	5	16	7	2	1	3	1	1	0	2	1	6	1	6	1	5	2	2	1	5	3	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr17:33318128G>A	ENST00000378526.4	+	5	1169	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	LIG3_ENST00000262327.5_Missense_Mutation_p.E346K	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	346					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	ACGGGACCTAGAGCAGGTCAG	0.483								Other BER factors																																									0													73	68	70					17																	33318128		2203	4300	6503	SO:0001583	missense	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1036G>A	17.37:g.33318128G>A	ENSP00000367787:p.Glu346Lys		Q16714|Q6NVK3	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.E346K	ENST00000378526.4	37	c.1036	CCDS11284.2	17	.	.	.	.	.	.	.	.	.	.	G	37	6.051416	0.97236	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.17370	2.28;2.28	5.65	5.65	0.86999	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	M	0.85197	2.74	0.80722	D	1	D;D;D	0.54601	0.967;0.967;0.967	P;P;P	0.62014	0.897;0.897;0.897	T	0.19257	-1.0311	10	0.30078	T	0.28	-33.4762	18.891	0.92403	0.0:0.0:1.0:0.0	.	346;346;346	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	K	346	ENSP00000367787:E346K;ENSP00000262327:E346K	ENSP00000262327:E346K	E	+	1	0	LIG3	30342241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.419000	0.97397	2.941000	0.99782	0.655000	0.94253	GAG	LIG3	-	pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep	ENSG00000005156		0.483	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	-	0	36	0	G	NM_013975		33318128	1	tier1	-	no_errors	ENST00000378526	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	A	A	33318128	G	A	33318128	3	1	118	1	0	0	0	0	1	0	0	0	8811	943	33	3	1050	3	LIG3	17	33318128	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	17313530	33318128	47877082	184	31380											
GGNBP2	79893	genome.wustl.edu	37	chr17	34916662	34916662	+	Nonsense_Mutation	SNP	A	A	T																															ttccaaaaagtaagaagaatAagagatgtcagttgcactcc																										TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr17:34916662A>T	ENST00000304718.4	+	5	794	c.478A>T	c.(478-480)Aag>Tag	p.K160*		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	160					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TAAGAAGAATAAGAGATGTCA	0.299																																																	0													81	83	83					17																	34916662		2203	4299	6502	SO:0001587	stop_gained	0			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.478A>T	17.37:g.34916662A>T	ENSP00000307617:p.Lys160*		B2RPK7|Q96T90|Q9GZR8|Q9H767	Nonsense_Mutation	SNP	NULL	p.K160*	ENST00000304718.4	37	c.478	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	A	39	7.401784	0.98262	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.33	5.33	0.75918	.	0.045710	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5235	15.3431	0.74314	1.0:0.0:0.0:0.0	.	.	.	.	X	160	.	ENSP00000307617:K160X	K	+	1	0	GGNBP2	31990775	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.601000	0.90864	2.024000	0.59613	0.454000	0.30748	AAG	GGNBP2	-	NULL	ENSG00000005955		0.299	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	-	0	65	0	A	NM_024835		34916662	1	tier1	-	no_errors	ENST00000304718	ensembl	human	known	74_37	nonsense	74.51	13	38	SNP	1.000	T	T	34916662	A	T	34916662	4	4	118	1	0	0	0	0	0	1	0	0	6385	363	13	5	492	5	GGNBP2	17	34916662	Nonsense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	1598534	34916662	46278548	185	31381	113	2									
GGNBP2	79893	genome.wustl.edu	37	chr17	34916664	34916664	+	Missense_Mutation	SNP	G	G	T																															ccaaaaagtaagaagaataaGagatgtcagttgcactcctt																								rs527456793		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr17:34916664G>T	ENST00000304718.4	+	5	796	c.480G>T	c.(478-480)aaG>aaT	p.K160N		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	160					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGAAGAATAAGAGATGTCAGT	0.303																																																	0													82	84	83					17																	34916664		2203	4299	6502	SO:0001583	missense	0			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.480G>T	17.37:g.34916664G>T	ENSP00000307617:p.Lys160Asn		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.K160N	ENST00000304718.4	37	c.480	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236623	0.39498	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.33	3.26	0.37387	.	0.045710	0.85682	D	0.000000	T	0.25791	0.0628	N	0.04508	-0.205	0.41952	D	0.990667	B;B	0.24721	0.11;0.004	B;B	0.20184	0.028;0.006	T	0.04607	-1.0939	9	0.41790	T	0.15	-14.5235	5.8005	0.18412	0.1681:0.0:0.6794:0.1525	.	160;160	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	N	160	.	ENSP00000307617:K160N	K	+	3	2	GGNBP2	31990777	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.267000	0.33050	0.563000	0.29222	0.555000	0.69702	AAG	GGNBP2	-	NULL	ENSG00000005955		0.303	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	-	0	63	0	G	NM_024835		34916664	1	tier1	-	no_errors	ENST00000304718	ensembl	human	known	74_37	missense	74.51	13	38	SNP	1.000	T	T	34916664	G	T	34916664	3	4	118	1	0	0	0	0	1	0	0	0	6385	933	33	3	494	3	GGNBP2	17	34916664	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	2	34916664	46278546	186	31382	113	2									
TOB1	10140	genome.wustl.edu	37	chr17	48941282	48941282	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttcttaagaagtctttCaagttcttcaccaaaaatgt	12	17	4	8	0	6	1	2	0	4	1	6	1	6	1	1	0	0	1	1	0	5	6			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr17:48941282C>G	ENST00000268957.3	-	3	525	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	TOB1-AS1_ENST00000416263.3_RNA|TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000499247.2_Missense_Mutation_p.E33Q|TOB1-AS1_ENST00000523470.1_RNA	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	33					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)	p.R22fs*5(1)		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)			AGAAGTCTTTCAAGTTCTTCA	0.388																																					NSCLC(144;643 1919 24513 29423 40686)												1	Deletion - Frameshift(1)	liver(1)											106	108	108					17																	48941282		2203	4300	6503	SO:0001583	missense	0			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.97G>C	17.37:g.48941282C>G	ENSP00000268957:p.Glu33Gln		B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.E33Q	ENST00000268957.3	37	c.97	CCDS11576.1	17	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229830	0.58777	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.50813	0.73;0.73	5.66	5.66	0.87406	Anti-proliferative protein (3);	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	L	0.47016	1.485	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.63637	-0.6592	10	0.56958	D	0.05	.	19.7503	0.96265	0.0:1.0:0.0:0.0	.	33	P50616	TOB1_HUMAN	Q	33	ENSP00000427695:E33Q;ENSP00000268957:E33Q	ENSP00000268957:E33Q	E	-	1	0	TOB1	46296281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.648000	0.89879	0.655000	0.94253	GAA	TOB1	-	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	ENSG00000141232		0.388	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TOB1	HGNC	protein_coding	OTTHUMT00000368364.1	-	0	39	0	C			48941282	-1	tier1	-	no_errors	ENST00000268957	ensembl	human	known	74_37	missense	27.08	35	13	SNP	1.000	G	G	48941282	C	G	48941282	3	3	118	1	0	0	0	0	1	0	0	0	16394	835	29	5	944	5	TOB1	17	48941282	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	14024618	48941282	32253928	187	31383											
GH1	2688	genome.wustl.edu	37	chr17	61994789	61994789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgagtagtgcgtcatcGttgtgtgagtttgtgtcgaa	6	17	13	5	3	2	2	1	2	1	0	4	3	2	2	0	0	1	3	0	0	2	5			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr17:61994789G>A	ENST00000323322.5	-	5	576	c.534C>T	c.(532-534)aaC>aaT	p.N178N	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Silent_p.N163N|GH1_ENST00000342364.4_Silent_p.N83N|GH1_ENST00000351388.4_Silent_p.N138N	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	178					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GTGCGTCATCGTTGTGTGAGT	0.547																																																	0													277	213	234					17																	61994789		2203	4300	6503	SO:0001819	synonymous_variant	0			M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"Endogenous ligands"	4261	protein-coding gene	gene with protein product	"pituitary growth hormone", "somatotropin"	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.534C>T	17.37:g.61994789G>A			A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.N178	ENST00000323322.5	37	c.534	CCDS11653.1	17																																																																																			GH1	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core	ENSG00000259384		0.547	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH1	HGNC	protein_coding	OTTHUMT00000417708.1	-	0	330	0	G	NM_000515		61994789	-1	tier1	-	no_errors	ENST00000323322	ensembl	human	known	74_37	silent	79.50	74	287	SNP	0.562	A	A	61994789	G	A	61994789	2	1	118	1	0	0	0	0	0	0	0	1	6393	1154	40	1		1	GH1	17	61994789	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	13053507	61994789	19200421	188	31384											
ZNF750	79755	genome.wustl.edu	37	chr17	80789643	80789643	+	Frame_Shift_Del	DEL	C	C	-																															gtgcatgtaaggggaaatggCcccaagcccctttgtagatg																										TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr17:80789643delC	ENST00000269394.3	-	2	1521	c.688delG	c.(688-690)gccfs	p.A230fs	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	230					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGGGAAATGGCCCCAAGCCCC	0.562																																																	0													55	58	57					17																	80789643		2203	4300	6503	SO:0001589	frameshift_variant	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.688delG	17.37:g.80789643delC	ENSP00000269394:p.Ala230fs		Q9H899	Frame_Shift_Del	DEL	NULL	p.A230fs	ENST00000269394.3	37	c.688	CCDS11819.1	17																																																																																			ZNF750	-	NULL	ENSG00000141579		0.562	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2		0	79	0	C	NM_024702		80789643	-1	tier1		no_errors	ENST00000269394	ensembl	human	known	74_37	frame_shift_del	68.75	30	66	DEL	0.019	-	-	80789643	C	-	80789643	7	5	118	1	0	1	0	1	0	0	0	0	18180	739	26	0	1491	0	ZNF750	17	80789643	Frame_Shift_Del	DEL	C	TCGA-LN-A4A9-01A-11D-A28B-09	18794854	80789643	405567	189	31385											
PPP4R1	9989	genome.wustl.edu	37	chr18	9550118	9550118	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaagttctccacaagctCattgatgaggtccactccga	11	9	8	13	1	2	2	1	2	1	0	5	3	4	2	4	1	1	2	4	1	2	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr18:9550118C>G	ENST00000400556.3	-	18	2552	c.2479G>C	c.(2479-2481)Gag>Cag	p.E827Q	PPP4R1_ENST00000400555.3_Missense_Mutation_p.E810Q	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	827					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						TCCACAAGCTCATTGATGAGG	0.552																																					Melanoma(188;1232 2082 5061 11948 35994)												0													82	94	90					18																	9550118		2040	4196	6236	SO:0001583	missense	0			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.2479G>C	18.37:g.9550118C>G	ENSP00000383402:p.Glu827Gln		Q99774|Q9UNQ7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E827Q	ENST00000400556.3	37	c.2479	CCDS42412.1	18	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783350	0.70222	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.32753	1.44;1.44	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.144866	0.49305	D	0.000156	T	0.49847	0.1581	M	0.79475	2.455	0.51233	D	0.999918	P;D;B	0.52996	0.82;0.957;0.079	B;P;B	0.50970	0.374;0.655;0.138	T	0.48636	-0.9018	9	.	.	.	-29.8235	20.0247	0.97519	0.0:1.0:0.0:0.0	.	810;827;810	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	Q	827;810	ENSP00000383402:E827Q;ENSP00000383401:E810Q	.	E	-	1	0	PPP4R1	9540118	1.000000	0.71417	0.646000	0.29493	0.734000	0.41952	5.713000	0.68415	2.804000	0.96469	0.655000	0.94253	GAG	PPP4R1	-	superfamily_ARM-type_fold	ENSG00000154845		0.552	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	-	0	91	0	C	NM_005134		9550118	-1	tier1	-	no_errors	ENST00000400556	ensembl	human	known	74_37	missense	27.27	55	21	SNP	1.000	G	G	9550118	C	G	9550118	3	3	118	1	0	0	0	0	1	0	0	0	12445	835	29	5	385	5	PPP4R1	18	9550118	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09		9550118	68527130	190	31386											
ZNF519	162655	genome.wustl.edu	37	chr18	14105539	14105539	+	Missense_Mutation	SNP	A	A	G																															tctctgatgttgagtaaggtAtgagcctctgttaaaagctt																										TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr18:14105539A>G	ENST00000590202.1	-	3	1152	c.1000T>C	c.(1000-1002)Tac>Cac	p.Y334H	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	334					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TGAGTAAGGTATGAGCCTCTG	0.423																																																	0													98	100	99					18																	14105539		2203	4300	6503	SO:0001583	missense	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1000T>C	18.37:g.14105539A>G	ENSP00000464872:p.Tyr334His			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y334H	ENST00000590202.1	37	c.1000	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.875496	0.00537	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	N	0.01761	-0.735	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.25572	-1.0128	8	0.06757	T	0.87	.	2.5989	0.04861	0.2705:0.4834:0.0:0.2461	.	334	Q8TB69	ZN519_HUMAN	H	334	.	ENSP00000307908:Y334H	Y	-	1	0	ZNF519	14095539	0.000000	0.05858	0.000000	0.03702	0.529000	0.34654	-8.728000	0.00017	-1.260000	0.02465	0.076000	0.15429	TAC	ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175322		0.423	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1		0	43	0	A	NM_145287		14105539	-1			no_errors	ENST00000590202	ensembl	human	known	74_37	missense	44.44	10	8	SNP	0.000	G	G	14105539	A	G	14105539	3	3	118	1	0	0	0	0	1	0	0	0	18012	449	16	4	626	4	ZNF519	18	14105539	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	4555421	14105539	63971709	191	31387	114	4									
ZNF519	162655	genome.wustl.edu	37	chr18	14105543	14105543	+	Silent	SNP	G	G	A																															tgatgttgagtaaggtatgaGcctctgttaaaagctttgcc																										TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr18:14105543G>A	ENST00000590202.1	-	3	1148	c.996C>T	c.(994-996)ggC>ggT	p.G332G	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	332					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TAAGGTATGAGCCTCTGTTAA	0.423																																																	0													96	99	98					18																	14105543		2203	4300	6503	SO:0001819	synonymous_variant	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.996C>T	18.37:g.14105543G>A				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G332	ENST00000590202.1	37	c.996	CCDS32797.1	18																																																																																			ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175322		0.423	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1		0	43	0	G	NM_145287		14105543	-1			no_errors	ENST00000590202	ensembl	human	known	74_37	silent	35.29	10	6	SNP	0.000	A	A	14105543	G	A	14105543	2	1	118	1	0	0	0	0	0	0	0	1	18012	958	34	3		3	ZNF519	18	14105543	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	4	14105543	63971705	192	31388	114	4									
ZNF519	162655	genome.wustl.edu	37	chr18	14105544	14105545	+	Frame_Shift_Ins	INS	-	-	T																															atgttgagtaaggtatgagcINSctctgttaaaagctttgcca																										TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr18:14105544_14105545insT	ENST00000590202.1	-	3	1146_1147	c.994_995insA	c.(994-996)ggcfs	p.G332fs	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	332					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AAGGTATGAGCCTCTGTTAAAA	0.421																																																	0																																										SO:0001589	frameshift_variant	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.994_995insA	18.37:g.14105544_14105545insT	ENSP00000464872:p.Gly332fs			Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G332fs	ENST00000590202.1	37	c.995_994	CCDS32797.1	18																																																																																			ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175322		0.421	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1		0	43	0	-	NM_145287		14105545	-1	tier1		no_errors	ENST00000590202	ensembl	human	known	74_37	frame_shift_ins	29.41	12	5	INS	0.000:0.000	T	T	14105545	-	T	14105544	7	5	118	1	0	1	1	0	0	0	0	0	18012	739	26	0	631	0	ZNF519	18	14105544	Frame_Shift_Ins	INS	-	TCGA-LN-A4A9-01A-11D-A28B-09	1	14105544	63971704	193	31389	114	4									
ZNF519	162655	genome.wustl.edu	37	chr18	14105547	14105547	+	Frame_Shift_Del	DEL	C	C	-																															gttgagtaaggtatgagcctCtgttaaaagctttgccacat																										TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr18:14105547delC	ENST00000590202.1	-	3	1144	c.992delG	c.(991-993)agafs	p.R331fs	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	331					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTATGAGCCTCTGTTAAAAGC	0.423																																																	0													95	98	97					18																	14105547		2203	4300	6503	SO:0001589	frameshift_variant	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.992delG	18.37:g.14105547delC	ENSP00000464872:p.Arg331fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R331fs	ENST00000590202.1	37	c.992	CCDS32797.1	18																																																																																			ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175322		0.423	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1		0	45	0	C	NM_145287		14105547	-1	tier1		no_errors	ENST00000590202	ensembl	human	known	74_37	frame_shift_del	31.25	11	5	DEL	0.000	-	-	14105547	C	-	14105547	7	5	118	1	0	1	0	1	0	0	0	0	18012	913	32	0	634	0	ZNF519	18	14105547	Frame_Shift_Del	DEL	C	TCGA-LN-A4A9-01A-11D-A28B-09	3	14105547	63971701	194	31390	114	4									
ZNF519	162655	genome.wustl.edu	37	chr18	14105572	14105572	+	Missense_Mutation	SNP	T	T	C																															aaaagctttgccacattcctTacacttgaaaggcttctctc																										TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr18:14105572T>C	ENST00000590202.1	-	3	1119	c.967A>G	c.(967-969)Aag>Gag	p.K323E	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	323					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CCACATTCCTTACACTTGAAA	0.398																																																	0													87	89	88					18																	14105572		2203	4300	6503	SO:0001583	missense	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.967A>G	18.37:g.14105572T>C	ENSP00000464872:p.Lys323Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K323E	ENST00000590202.1	37	c.967	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.626251	0.00813	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07052	0.0179	N	0.00746	-1.225	0.09310	N	1	B	0.21753	0.06	B	0.25987	0.065	T	0.40646	-0.9552	8	0.02654	T	1	.	2.7884	0.05380	0.4188:0.0:0.0:0.5812	.	323	Q8TB69	ZN519_HUMAN	E	323	.	ENSP00000307908:K323E	K	-	1	0	ZNF519	14095572	0.000000	0.05858	0.698000	0.30274	0.541000	0.35023	-4.006000	0.00315	0.552000	0.29026	0.076000	0.15429	AAG	ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175322		0.398	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1		0	47	0	T	NM_145287		14105572	-1			no_errors	ENST00000590202	ensembl	human	known	74_37	missense	46.15	7	6	SNP	0.198	C	C	14105572	T	C	14105572	3	2	118	1	0	0	0	0	1	0	0	0	18012	1763	61	4	659	4	ZNF519	18	14105572	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	25	14105572	63971676	195	31391	115	4									
ZNF519	162655	genome.wustl.edu	37	chr18	14105576	14105576	+	Silent	SNP	C	C	T																															gctttgccacattccttacaCttgaaaggcttctctccagt																										TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr18:14105576C>T	ENST00000590202.1	-	3	1115	c.963G>A	c.(961-963)aaG>aaA	p.K321K	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	321					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ATTCCTTACACTTGAAAGGCT	0.398																																																	0													85	87	87					18																	14105576		2203	4300	6503	SO:0001819	synonymous_variant	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.963G>A	18.37:g.14105576C>T				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K321	ENST00000590202.1	37	c.963	CCDS32797.1	18																																																																																			ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175322		0.398	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1		0	50	0	C	NM_145287		14105576	-1			no_errors	ENST00000590202	ensembl	human	known	74_37	silent	53.85	6	7	SNP	0.072	T	T	14105576	C	T	14105576	2	4	118	1	0	0	0	0	0	0	0	1	18012	564	20	3		3	ZNF519	18	14105576	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	4	14105576	63971672	196	31392	115	4									
ZNF519	162655	genome.wustl.edu	37	chr18	14105583	14105583	+	Frame_Shift_Del	DEL	G	G	-																															cacattccttacacttgaaaGgcttctctccagtatggatt																								rs552977206		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr18:14105583delG	ENST00000590202.1	-	3	1108	c.956delC	c.(955-957)cctfs	p.P319fs	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	319					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ACACTTGAAAGGCTTCTCTCC	0.393																																																	0													83	85	84					18																	14105583		2203	4300	6503	SO:0001589	frameshift_variant	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.956delC	18.37:g.14105583delG	ENSP00000464872:p.Pro319fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P319fs	ENST00000590202.1	37	c.956	CCDS32797.1	18																																																																																			ZNF519	-	pfscan_Znf_C2H2	ENSG00000175322		0.393	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1		0	50	0	G	NM_145287		14105583	-1	tier1		no_errors	ENST00000590202	ensembl	human	known	74_37	frame_shift_del	33.33	10	5	DEL	0.986	-	-	14105583	G	-	14105583	7	5	118	1	0	1	0	1	0	0	0	0	18012	1000	35	0	670	0	ZNF519	18	14105583	Frame_Shift_Del	DEL	G	TCGA-LN-A4A9-01A-11D-A28B-09	7	14105583	63971665	197	31393	115	4									
ZNF519	162655	genome.wustl.edu	37	chr18	14105586	14105587	+	Frame_Shift_Ins	INS	-	-	C																															ttccttacacttgaaaggctINStctctccagtatggattctc																										TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr18:14105586_14105587insC	ENST00000590202.1	-	3	1104_1105	c.952_953insG	c.(952-954)aagfs	p.K318fs	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	318					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CTTGAAAGGCTTCTCTCCAGTA	0.386																																																	0																																										SO:0001589	frameshift_variant	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.952_953insG	18.37:g.14105586_14105587insC	ENSP00000464872:p.Lys318fs			Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K318fs	ENST00000590202.1	37	c.953_952	CCDS32797.1	18																																																																																			ZNF519	-	pfscan_Znf_C2H2	ENSG00000175322		0.386	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1		0	49	0	-	NM_145287		14105587	-1	tier1		no_errors	ENST00000590202	ensembl	human	known	74_37	frame_shift_ins	35.29	11	6	INS	0.998:1.000	C	C	14105587	-	C	14105586	7	5	118	1	0	1	1	0	0	0	0	0	18012	1609	56	0	673	0	ZNF519	18	14105586	Frame_Shift_Ins	INS	-	TCGA-LN-A4A9-01A-11D-A28B-09	3	14105586	63971662	198	31394	115	4									
ABCA7	10347	genome.wustl.edu	37	chr19	1044587	1044587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccccccagcggctcctgcaGatgcaggatgaaggaagaag	11	4	14	12	1	0	3	0	1	0	2	1	5	1	5	4	3	3	3	4	3	3	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:1044587G>C	ENST00000263094.6	+	11	1290	c.1059G>C	c.(1057-1059)caG>caC	p.Q353H	ABCA7_ENST00000435683.2_Missense_Mutation_p.Q215H|ABCA7_ENST00000433129.1_Missense_Mutation_p.Q353H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	353					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)		GGCTCCTGCAGATGCAGGATG	0.647																																																	0													45	57	53					19																	1044587		2203	4300	6503	SO:0001583	missense	0			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.1059G>C	19.37:g.1044587G>C	ENSP00000263094:p.Gln353His		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Q353H	ENST00000263094.6	37	c.1059	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424395	0.25639	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86627	-2.15;-2.15	3.02	-3.15	0.05233	.	.	.	.	.	T	0.79155	0.4398	N	0.25647	0.755	0.09310	N	1	B;B	0.30104	0.268;0.001	B;B	0.39738	0.308;0.007	T	0.69822	-0.5041	9	0.66056	D	0.02	.	4.1228	0.10112	0.3295:0.0:0.4747:0.1958	.	215;353	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	H	353	ENSP00000263094:Q353H;ENSP00000414062:Q353H	ENSP00000263094:Q353H	Q	+	3	2	ABCA7	995587	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	-0.138000	0.10374	-0.817000	0.04335	-0.870000	0.02990	CAG	ABCA7	-	NULL	ENSG00000064687		0.647	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	-	0	90	0	G	NM_019112		1044587	1	tier1	-	no_errors	ENST00000263094	ensembl	human	known	74_37	missense	32.93	55	27	SNP	0.006	C	C	1044587	G	C	1044587	3	2	118	1	0	0	0	0	1	0	0	0	37	933	33	5	1097	5	ABCA7	19	1044587	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09		1044587	58084396	199	31395											
MUM1	84939	genome.wustl.edu	37	chr19	1373090	1373090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccatcatctgtgcgatctCtgcggtggacgaggtggact	6	10	15	10	3	3	0	1	0	2	0	4	4	3	2	1	5	2	0	1	5	0	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:1373090C>G	ENST00000591806.1	+	12	2076	c.2009C>G	c.(2008-2010)tCt>tGt	p.S670C	MUM1_ENST00000415183.3_Silent_p.L722L|MUM1_ENST00000591453.1_3'UTR|MUM1_ENST00000344663.3_Missense_Mutation_p.S670C|MUM1_ENST00000311401.5_Missense_Mutation_p.S601C	NM_032853.3	NP_116242.2	Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	669					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCGATCTCTGCGGTGGAC	0.632																																																	0													116	90	99					19																	1373090		2203	4300	6503	SO:0001583	missense	0			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000591806.1:c.2009C>G	19.37:g.1373090C>G	ENSP00000467083:p.Ser670Cys		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP_dom	p.S670C	ENST00000591806.1	37	c.2009	CCDS12062.1	19	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612629	0.66672	.	.	ENSG00000160953	ENST00000344663;ENST00000311401	T;T	0.55052	0.54;0.54	4.47	4.47	0.54385	.	0.403617	0.27495	N	0.019102	T	0.70064	0.3181	M	0.65498	2.005	0.25075	N	0.990967	D;D	0.76494	0.999;0.999	D;P	0.68353	0.957;0.855	T	0.64635	-0.6361	10	0.87932	D	0	.	16.9872	0.86342	0.0:1.0:0.0:0.0	.	601;669	Q2TAK8-2;Q2TAK8	.;MUM1_HUMAN	C	670;601	ENSP00000345789:S670C;ENSP00000309135:S601C	ENSP00000309135:S601C	S	+	2	0	MUM1	1324090	0.795000	0.28851	0.007000	0.13788	0.657000	0.38888	6.094000	0.71431	2.417000	0.82017	0.455000	0.32223	TCT	MUM1	-	NULL	ENSG00000160953		0.632	MUM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449508.1	-	0	46	0	C	NM_032853		1373090	1	tier1	-	no_errors	ENST00000344663	ensembl	human	known	74_37	missense	35.09	37	20	SNP	0.349	G	G	1373090	C	G	1373090	3	3	118	1	0	0	0	0	1	0	0	0	10023	913	32	5	2055	5	MUM1	19	1373090	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	328503	1373090	57755893	200	31396											
TLE6	79816	genome.wustl.edu	37	chr19	2987362	2987362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatggtgacagagcaggcaCcaggcctggtgagtaaacaa	13	6	13	9	0	1	3	1	2	0	1	1	3	1	3	2	4	2	3	2	4	3	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:2987362C>T	ENST00000246112.4	+	8	751	c.550C>T	c.(550-552)Cca>Tca	p.P184S	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.P61S	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	184					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCAGGCACCAGGCCTGGT	0.637																																																	0													88	81	83					19																	2987362		2203	4300	6503	SO:0001583	missense	0			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"WD repeat domain containing"	30788	protein-coding gene	gene with protein product		612399	"transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.550C>T	19.37:g.2987362C>T	ENSP00000246112:p.Pro184Ser		J3KMZ1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.P184S	ENST00000246112.4	37	c.550	CCDS45910.1	19	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613564	0.28712	.	.	ENSG00000104953	ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.22134	1.97;2.15	2.37	2.37	0.29283	.	.	.	.	.	T	0.29223	0.0727	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.952	T	0.05162	-1.0902	9	0.52906	T	0.07	.	8.3175	0.32108	0.0:1.0:0.0:0.0	.	61;61	Q9H808;Q6PJM9	TLE6_HUMAN;.	S	184;61;61	ENSP00000246112:P184S;ENSP00000406893:P61S	ENSP00000246112:P184S	P	+	1	0	TLE6	2938362	0.011000	0.17503	0.077000	0.20336	0.206000	0.24218	0.977000	0.29475	1.635000	0.50512	0.555000	0.69702	CCA	TLE6	-	NULL	ENSG00000104953		0.637	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	HGNC	protein_coding	OTTHUMT00000345996.3	-	0	22	0	C	NM_024760		2987362	1	tier1	-	no_errors	ENST00000246112	ensembl	human	known	74_37	missense	37.93	18	11	SNP	0.252	T	T	2987362	C	T	2987362	3	4	118	1	0	0	0	0	1	0	0	0	15989	507	18	3	576	3	TLE6	19	2987362	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	1614272	2987362	56141621	201	31397											
PIP5K1C	23396	genome.wustl.edu	37	chr19	3656454	3656454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcggcctccttgtgcatGacggtcttgatgatgaactc	8	12	10	11	2	1	4	0	4	1	0	4	4	2	4	2	2	3	1	2	2	2	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:3656454G>A	ENST00000335312.3	-	6	658	c.570C>T	c.(568-570)gtC>gtT	p.V190V	PIP5K1C_ENST00000589578.1_Silent_p.V190V|PIP5K1C_ENST00000537021.1_Silent_p.V190V|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.V190V	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	190	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)		CCTTGTGCATGACGGTCTTGA	0.627																																					Esophageal Squamous(135;99 1744 12852 27186 39851)												0													82	83	82					19																	3656454		2203	4300	6503	SO:0001819	synonymous_variant	0			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.570C>T	19.37:g.3656454G>A			B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.V190	ENST00000335312.3	37	c.570	CCDS32872.1	19																																																																																			PIP5K1C	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000186111		0.627	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	-	0	69	0	G	NM_012398		3656454	-1	tier1	-	no_errors	ENST00000537021	ensembl	human	known	74_37	silent	33.33	42	21	SNP	0.996	A	A	3656454	G	A	3656454	2	1	118	1	0	0	0	0	0	0	0	1	11980	1277	45	3		3	PIP5K1C	19	3656454	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	669092	3656454	55472529	202	31398											
ZNF653	115950	genome.wustl.edu	37	chr19	11598622	11598622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgccgctgccgctgccGcagccttgaccggctggccc	2	7	13	19	5	0	1	0	1	0	0	1	1	0	1	6	2	4	5	6	2	0	1	rs373230491		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:11598622G>A	ENST00000293771.5	-	4	792	c.656C>T	c.(655-657)gCg>gTg	p.A219V	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	219	Poly-Ala.				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						TGCCGCTGCCGCAGCCTTGAC	0.662																																					Pancreas(83;980 1446 4542 6441 43352)												0								A	VAL/ALA	2,4058		0,2,2028	24	24	24		656	2.1	0	19		24	0,8008		0,0,4004	no	missense	ZNF653	NM_138783.3	64	0,2,6032	AA,AG,GG		0.0,0.0493,0.0166	benign	219/616	11598622	2,12066	2030	4004	6034	SO:0001583	missense	0			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.656C>T	19.37:g.11598622G>A	ENSP00000293771:p.Ala219Val		Q96AS7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A219V	ENST00000293771.5	37	c.656	CCDS12261.1	19	.	.	.	.	.	.	.	.	.	.	g	10.64	1.408290	0.25378	4.93E-4	0.0	ENSG00000161914	ENST00000293771	T	0.10382	2.88	4.25	2.07	0.26955	.	1.673800	0.03473	N	0.213896	T	0.07818	0.0196	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31530	-0.9940	10	0.22109	T	0.4	.	8.7739	0.34749	0.198:0.0:0.802:0.0	.	219	Q96CK0	ZN653_HUMAN	V	219	ENSP00000293771:A219V	ENSP00000293771:A219V	A	-	2	0	ZNF653	11459622	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.148000	0.16224	0.934000	0.37316	-0.215000	0.12644	GCG	ZNF653	-	NULL	ENSG00000161914		0.662	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF653	HGNC	protein_coding	OTTHUMT00000458836.2	-	0	24	0	G	NM_138783		11598622	-1	tier1	-	no_errors	ENST00000293771	ensembl	human	known	74_37	missense	37.50	20	12	SNP	0.001	A	A	11598622	G	A	11598622	3	1	118	1	0	0	0	0	1	0	0	0	18114	1087	38	1	1215	1	ZNF653	19	11598622	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	7942168	11598622	47530361	203	31399											
ZNF653	115950	genome.wustl.edu	37	chr19	11598670	11598670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcctcagagtcagaggcaGagccagagctggatgagtca	12	6	13	10	0	3	5	3	1	0	4	4	6	4	6	2	2	2	2	2	2	0	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:11598670G>A	ENST00000293771.5	-	4	744	c.608C>T	c.(607-609)tCt>tTt	p.S203F	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	203	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)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GTCAGAGGCAGAGCCAGAGCT	0.647																																					Pancreas(83;980 1446 4542 6441 43352)												0													18	18	18					19																	11598670		2193	4277	6470	SO:0001583	missense	0			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.608C>T	19.37:g.11598670G>A	ENSP00000293771:p.Ser203Phe		Q96AS7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S203F	ENST00000293771.5	37	c.608	CCDS12261.1	19	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084193	0.36758	.	.	ENSG00000161914	ENST00000293771	T	0.11712	2.75	4.13	3.08	0.35506	.	0.437874	0.23492	N	0.047594	T	0.11793	0.0287	L	0.29908	0.895	0.09310	N	1	D	0.61080	0.989	P	0.50708	0.648	T	0.06023	-1.0850	10	0.87932	D	0	-14.3226	8.7385	0.34543	0.1104:0.0:0.8896:0.0	.	203	Q96CK0	ZN653_HUMAN	F	203	ENSP00000293771:S203F	ENSP00000293771:S203F	S	-	2	0	ZNF653	11459670	0.995000	0.38212	0.209000	0.23619	0.208000	0.24298	5.395000	0.66291	2.029000	0.59856	0.561000	0.74099	TCT	ZNF653	-	NULL	ENSG00000161914		0.647	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF653	HGNC	protein_coding	OTTHUMT00000458836.2		0	16	0	G	NM_138783		11598670	-1			no_errors	ENST00000293771	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.027	A	A	11598670	G	A	11598670	3	1	118	1	0	0	0	0	1	0	0	0	18114	942	33	3	1263	3	ZNF653	19	11598670	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	48	11598670	47530313	204	31400											
ZNF625	90589	genome.wustl.edu	37	chr19	12256319	12256319	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttcccacattgcttacaTtcatagggcttctctccagt	7	15	6	13	0	2	0	1	0	1	0	5	0	4	0	2	1	2	3	2	1	2	6			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:12256319T>G	ENST00000355738.1	-	4	1063	c.714A>C	c.(712-714)gaA>gaC	p.E238D	CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000439556.2_Missense_Mutation_p.E304D|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Missense_Mutation_p.E238D			Q96I27	ZN625_HUMAN	zinc finger protein 625	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						ATTGCTTACATTCATAGGGCT	0.443																																																	0													118	113	115					19																	12256319		2203	4300	6503	SO:0001583	missense	0			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"Zinc fingers, C2H2-type", "-"	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.714A>C	19.37:g.12256319T>G	ENSP00000347977:p.Glu238Asp		A4FU45|I3L0E9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E304D	ENST00000355738.1	37	c.912		19	.	.	.	.	.	.	.	.	.	.	T	15.29	2.790539	0.50102	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.07688	3.17;3.17;3.17	0.856	-0.244	0.13031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16938	0.0407	L	0.52823	1.66	0.09310	N	0.999998	P;D	0.89917	0.894;1.0	B;D	0.91635	0.213;0.999	T	0.17961	-1.0352	9	0.72032	D	0.01	.	1.401	0.02270	0.3277:0.2545:0.0:0.4178	.	238;238	A8K8U0;Q96I27	.;ZN625_HUMAN	D	238;238;304	ENSP00000438436:E238D;ENSP00000347977:E238D;ENSP00000394380:E304D	ENSP00000347977:E238D	E	-	3	2	AC022415.5	12117319	0.000000	0.05858	0.158000	0.22627	0.816000	0.46133	-4.876000	0.00175	-0.144000	0.11314	0.260000	0.18958	GAA	ZNF625	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000257591		0.443	ZNF625-201	KNOWN	basic	protein_coding	ZNF625	HGNC	protein_coding		-	0	83	0	T	NM_145233		12256319	-1	tier1	-	no_errors	ENST00000439556	ensembl	human	known	74_37	missense	49.25	34	33	SNP	0.017	G	G	12256319	T	G	12256319	3	3	118	1	0	0	0	0	1	0	0	0	18097	1490	52	4	210	4	ZNF625	19	12256319	Missense_Mutation	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	657649	12256319	46872664	205	31401											
MYO9B	4650	genome.wustl.edu	37	chr19	17264866	17264866	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcctgaagattatttctAcctcaaccaggtaaacagcc	13	9	7	12	0	2	2	1	1	1	1	2	2	2	2	4	1	5	2	4	1	6	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:17264866A>T	ENST00000594824.1	+	5	1235	c.1088A>T	c.(1087-1089)tAc>tTc	p.Y363F	CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.Y363F|MYO9B_ENST00000595618.1_Missense_Mutation_p.Y363F|CTD-3032J10.2_ENST00000597216.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	363	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						GATTATTTCTACCTCAACCAG	0.498																																																	0													82	85	84					19																	17264866		1944	4133	6077	SO:0001583	missense	0				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.1088A>T	19.37:g.17264866A>T	ENSP00000471367:p.Tyr363Phe		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.Y363F	ENST00000594824.1	37	c.1088		19	.	.	.	.	.	.	.	.	.	.	A	25.9	4.689845	0.88735	.	.	ENSG00000099331	ENST00000397274	D	0.89552	-2.53	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.000000	0.47455	D	0.000221	D	0.91958	0.7453	L	0.56769	1.78	0.45806	D	0.998686	P;P;P	0.50272	0.933;0.933;0.877	P;P;P	0.62014	0.897;0.897;0.781	D	0.92247	0.5805	10	0.59425	D	0.04	.	12.3461	0.55122	1.0:0.0:0.0:0.0	.	363;363;369	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	F	363	ENSP00000380444:Y363F	ENSP00000380444:Y363F	Y	+	2	0	MYO9B	17125866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.165000	0.94761	1.864000	0.54056	0.459000	0.35465	TAC	MYO9B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000099331		0.498	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	-	0	35	0	A			17264866	1	tier1	-	no_errors	ENST00000594824	ensembl	human	known	74_37	missense	48.84	22	21	SNP	1.000	T	T	17264866	A	T	17264866	3	4	118	1	0	0	0	0	1	0	0	0	10123	391	14	5	1102	5	MYO9B	19	17264866	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	5008547	17264866	41864117	206	31402											
MAST3	23031	genome.wustl.edu	37	chr19	18234138	18234138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagagaatgtgcttgatgagGaaggcggccggtcaccccgc	9	6	15	11	3	1	3	1	2	0	1	1	5	1	4	3	4	1	1	3	4	2	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:18234138G>A	ENST00000262811.6	+	6	424	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	142							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						GCTTGATGAGGAAGGCGGCCG	0.692																																																	0													28	30	29					19																	18234138		1958	4132	6090	SO:0001583	missense	0			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.424G>A	19.37:g.18234138G>A	ENSP00000262811:p.Glu142Lys		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.E142K	ENST00000262811.6	37	c.424	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301254	0.60195	.	.	ENSG00000099308	ENST00000262811	T	0.29917	1.55	4.69	4.69	0.59074	Microtubule-associated serine/threonine-protein kinase, domain (1);	.	.	.	.	T	0.38746	0.1052	L	0.43152	1.355	0.41376	D	0.987528	B	0.30104	0.268	B	0.42593	0.392	T	0.38735	-0.9647	9	0.56958	D	0.05	-9.1073	16.9486	0.86237	0.0:0.0:1.0:0.0	.	142	O60307	MAST3_HUMAN	K	142	ENSP00000262811:E142K	ENSP00000262811:E142K	E	+	1	0	MAST3	18095138	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	9.336000	0.96533	2.324000	0.78689	0.484000	0.47621	GAA	MAST3	-	pfam_MA_Ser/Thr_Kinase_dom	ENSG00000099308		0.692	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	-	0	33	0	G	XM_038150		18234138	1	tier1	-	no_errors	ENST00000262811	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	A	A	18234138	G	A	18234138	3	1	118	1	0	0	0	0	1	0	0	0	9364	1175	41	3	446	3	MAST3	19	18234138	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	969272	18234138	40894845	207	31403											
ZNF737	100129842	genome.wustl.edu	37	chr19	20727799	20727799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggagtacttaaaggcttCgccacattcttcacatttgt	11	13	8	9	1	2	1	1	0	1	1	3	2	2	2	1	2	1	2	1	2	3	6			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:20727799C>T	ENST00000427401.4	-	4	1304	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	404					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						TTAAAGGCTTCGCCACATTCT	0.423																																																	0													141	136	137					19																	20727799		692	1591	2283	SO:0001583	missense	0			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.1210G>A	19.37:g.20727799C>T	ENSP00000395733:p.Glu404Lys		C9JHM3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E404K	ENST00000427401.4	37	c.1210	CCDS54238.1	19	.	.	.	.	.	.	.	.	.	.	N	0.007	-1.937661	0.00484	.	.	ENSG00000237440	ENST00000427401	T	0.35605	1.3	0.801	-0.559	0.11792	.	.	.	.	.	T	0.05273	0.0140	N	0.00102	-2.13	0.23156	N	0.998205	B	0.12630	0.006	B	0.01281	0.0	T	0.39683	-0.9602	9	0.02654	T	1	.	2.136	0.03762	0.0:0.3371:0.3479:0.3149	.	404	C9JHM3	.	K	404	ENSP00000395733:E404K	ENSP00000395733:E404K	E	-	1	0	ZNF737	20519639	0.991000	0.36638	0.483000	0.27378	0.486000	0.33341	2.129000	0.42055	0.170000	0.19704	0.173000	0.16961	GAA	ZNF737	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000237440		0.423	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	-	0	41	0	C	NM_145289		20727799	-1	tier1	-	no_errors	ENST00000427401	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.998	T	T	20727799	C	T	20727799	3	4	118	1	0	0	0	0	1	0	0	0	18174	893	31	1	404	1	ZNF737	19	20727799	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	2493661	20727799	38401184	208	31404											
ZNF100	163227	genome.wustl.edu	37	chr19	21909915	21909915	+	Missense_Mutation	SNP	A	A	G	1	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	cgcattcttcacatttgtagAatttctctccagtatgactt	9	17	5	10	1	3	2	1	1	2	1	5	2	4	2	1	0	0	3	1	0	3	7	rs532890971		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:21909915A>G	ENST00000358296.6	-	5	1397	c.1199T>C	c.(1198-1200)tTc>tCc	p.F400S	ZNF100_ENST00000305570.6_Missense_Mutation_p.F336S	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						ACATTTGTAGAATTTCTCTCC	0.388													N|||	1	0.000199681	0	0.0014	5008	,	,		21166	0		0	False		,,,				2504	0																0													57	63	61					19																	21909915		2164	4273	6437	SO:0001583	missense	0			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1199T>C	19.37:g.21909915A>G	ENSP00000351042:p.Phe400Ser		Q7M4M0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F400S	ENST00000358296.6	37	c.1199	CCDS42538.1	19	.	.	.	.	.	.	.	.	.	.	.	0.935	-0.711272	0.03230	.	.	ENSG00000197020	ENST00000358296	T	0.17691	2.26	0.841	-1.68	0.08212	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05686	0.0149	N	0.01454	-0.855	0.22918	N	0.998568	B;B	0.18166	0.003;0.026	B;B	0.17098	0.012;0.017	T	0.34925	-0.9809	9	0.66056	D	0.02	.	5.9157	0.19053	0.4235:0.0:0.5765:0.0	.	400;454	Q8IYN0;Q4G131	ZN100_HUMAN;.	S	400	ENSP00000351042:F400S	ENSP00000351042:F400S	F	-	2	0	ZNF100	21701755	0.094000	0.21725	0.009000	0.14445	0.009000	0.06853	1.054000	0.30455	-1.393000	0.02079	-1.425000	0.01104	TTC	ZNF100	-	pfscan_Znf_C2H2	ENSG00000197020		0.388	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	HGNC	protein_coding	OTTHUMT00000464087.1		0	55	0	A	NM_173531		21909915	-1			no_errors	ENST00000358296	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.843	G	G	21909915	A	G	21909915	3	3	118	1	0	0	0	0	1	0	0	0	17761	246	9	4	433	4	ZNF100	19	21909915	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	1182116	21909915	37219068	209	31405											
MLL4	9757	genome.wustl.edu	37	chr19	36212661	36212661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagccaaagtgcagctattCaagatcgatcagcagcagca	15	6	10	10	1	2	2	2	0	0	2	3	3	2	2	1	0	6	5	1	0	3	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:36212661C>G	ENST00000222270.7	+	3	2412	c.2412C>G	c.(2410-2412)ttC>ttG	p.F804L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.F804L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	804					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)										TGCAGCTATTCAAGATCGATC	0.592																																																	0													26	31	29					19																	36212661		2171	4278	6449	SO:0001583	missense	0			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.2412C>G	19.37:g.36212661C>G	ENSP00000222270:p.Phe804Leu		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.F804L	ENST00000222270.7	37	c.2412	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	C	9.029	0.986754	0.18889	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82344	-1.6;-1.6	5.38	3.18	0.36537	.	0.546329	0.15222	N	0.273916	T	0.71584	0.3357	L	0.36672	1.1	0.31782	N	0.630752	B	0.10296	0.003	B	0.10450	0.005	T	0.63945	-0.6522	10	0.11182	T	0.66	.	9.0348	0.36280	0.0:0.8087:0.0:0.1913	.	804	Q9UMN6	MLL4_HUMAN	L	804	ENSP00000222270:F804L;ENSP00000398837:F804L	ENSP00000222270:F804L	F	+	3	2	AD000671.1	40904501	1.000000	0.71417	0.987000	0.45799	0.004000	0.04260	3.645000	0.54389	1.505000	0.48720	0.650000	0.86243	TTC	KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.592	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0	42	0	C	NM_014727		36212661	1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	missense	41.94	18	13	SNP	0.994	G	G	36212661	C	G	36212661	3	3	118	1	0	0	0	0	1	0	0	0	9661	825	29	5	2422	5	MLL4	19	36212661	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	14302746	36212661	22916322	210	31406											
IL28A	282616	genome.wustl.edu	37	chr19	39759317	39759317	+	Splice_Site	SNP	A	A	G	1	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	cctttctctctgtgacacagAcatgactggggactgcacgc	8	10	10	13	1	2	3	0	2	2	1	3	4	2	4	1	2	1	1	1	2	0	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:39759317A>G	ENST00000331982.5	+	2	66	c.11A>G	c.(10-12)gAc>gGc	p.D4G		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	4					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											TGTGACACAGACATGACTGGG	0.637																																																	0													59	64	62					19																	39759317		2202	4300	6502	SO:0001630	splice_region_variant	0			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.11-1A>G	19.37:g.39759317A>G			Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	NULL	p.D4G	ENST00000331982.5	37	c.11	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	A	8.746	0.920170	0.17982	.	.	ENSG00000183709	ENST00000331982	T	0.21031	2.03	3.29	1.15	0.20763	.	.	.	.	.	T	0.12050	0.0293	N	0.25647	0.755	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.33624	-0.9861	8	.	.	.	.	4.5278	0.11990	0.7036:0.0:0.2964:0.0	.	4	Q8IZJ0	IL28A_HUMAN	G	4	ENSP00000333639:D4G	.	D	+	2	0	IL28A	44451157	0.033000	0.19621	0.085000	0.20634	0.132000	0.20833	-0.093000	0.11111	0.428000	0.26173	0.164000	0.16699	GAC	IFNL2	-	NULL	ENSG00000183709		0.637	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL2	HGNC	protein_coding	OTTHUMT00000463833.1	-	0	67	0	A	NM_172138	Missense_Mutation	39759317	1	tier1	-	no_errors	ENST00000331982	ensembl	human	known	74_37	missense	41.94	36	26	SNP	0.102	G	G	39759317	A	G	39759317	5	3	118	1	0	0	0	0	0	0	1	0	7709	289	10	4	17	4	IL28A	19	39759317	Splice_Site	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	3546656	39759317	19369666	211	31407											
PRX	57716	genome.wustl.edu	37	chr19	40904703	40904703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagttctcgaagaacactcGggcactcagcagctggtccc	10	7	11	13	2	2	1	1	0	1	1	5	3	3	1	1	2	3	4	1	2	3	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:40904703G>C	ENST00000324001.7	-	6	475	c.205C>G	c.(205-207)Cga>Gga	p.R69G	PRX_ENST00000291825.7_Missense_Mutation_p.R69G	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	69	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAGAACACTCGGGCACTCAGC	0.642																																																	0													59	54	55					19																	40904703		2203	4300	6503	SO:0001583	missense	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.205C>G	19.37:g.40904703G>C	ENSP00000326018:p.Arg69Gly		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R69G	ENST00000324001.7	37	c.205	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606622	0.66558	.	.	ENSG00000105227	ENST00000324001;ENST00000291825;ENST00000341562	T;T	0.23552	1.9;1.9	5.18	4.13	0.48395	PDZ/DHR/GLGF (3);	0.118493	0.51477	D	0.000100	T	0.28764	0.0713	N	0.05441	-0.05	0.38784	D	0.954822	D;D	0.71674	0.974;0.998	P;D	0.75484	0.7;0.986	T	0.30060	-0.9991	10	0.44086	T	0.13	-13.7952	12.4478	0.55662	0.0:0.0:0.6964:0.3035	.	69;69	Q9BXM0-2;Q9BXM0	.;PRAX_HUMAN	G	69	ENSP00000326018:R69G;ENSP00000291825:R69G	ENSP00000291825:R69G	R	-	1	2	PRX	45596543	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	2.630000	0.46494	1.177000	0.42855	0.561000	0.74099	CGA	PRX	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000105227		0.642	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1		0	23	0	G	NM_020956		40904703	-1			no_errors	ENST00000324001	ensembl	human	known	74_37	missense	35.71	9	5	SNP	0.998	C	C	40904703	G	C	40904703	3	2	118	1	0	0	0	0	1	0	0	0	12684	1124	39	5	4251	5	PRX	19	40904703	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	1145386	40904703	18224280	212	31408											
CEACAM21	90273	genome.wustl.edu	37	chr19	42082640	42082640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagaccatggggcccccctCagcttgtccccacagagaat	10	6	10	15	0	1	2	1	0	0	2	2	4	2	2	6	2	1	1	6	2	1	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:42082640C>T	ENST00000401445.2	+	1	40	c.14C>T	c.(13-15)tCa>tTa	p.S5L	CEACAM21_ENST00000187608.9_Missense_Mutation_p.S5L|CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000407170.2_Intron			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	5						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GGGCCCCCCTCAGCTTGTCCC	0.617																																																	0													44	46	45					19																	42082640		2203	4300	6503	SO:0001583	missense	0			AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.14C>T	19.37:g.42082640C>T	ENSP00000385739:p.Ser5Leu		B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S5L	ENST00000401445.2	37	c.14	CCDS46086.1	19	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093697	0.56075	.	.	ENSG00000007129	ENST00000187608;ENST00000401445	T;T	0.39592	1.07;1.09	2.26	2.26	0.28386	.	.	.	.	.	T	0.57636	0.2067	M	0.76433	2.335	0.21020	N	0.999806	P;P	0.49783	0.922;0.928	P;P	0.60068	0.868;0.677	T	0.43410	-0.9393	9	0.72032	D	0.01	.	8.6491	0.34025	0.0:1.0:0.0:0.0	.	5;5	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	L	5	ENSP00000187608:S5L;ENSP00000385739:S5L	ENSP00000187608:S5L	S	+	2	0	CEACAM21	46774480	0.002000	0.14202	0.119000	0.21687	0.326000	0.28443	0.044000	0.13992	1.236000	0.43740	0.123000	0.15791	TCA	CEACAM21	-	NULL	ENSG00000007129		0.617	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	CEACAM21	HGNC	protein_coding	OTTHUMT00000321140.1	-	0	74	0	C	NM_033543		42082640	1	tier1	-	no_errors	ENST00000401445	ensembl	human	known	74_37	missense	32.47	52	25	SNP	0.557	T	T	42082640	C	T	42082640	3	4	118	1	0	0	0	0	1	0	0	0	3199	838	29	3	16	3	CEACAM21	19	42082640	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	1177937	42082640	17046343	213	31409											
CIC	23152	genome.wustl.edu	37	chr19	42796614	42796614	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttcgtgcagcccctgctCtcaggtgaggggcggcctgg	3	8	16	14	2	1	1	1	1	1	0	3	1	1	1	4	5	3	2	4	5	0	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:42796614C>T	ENST00000575354.2	+	13	3211	c.3171C>T	c.(3169-3171)ctC>ctT	p.L1057L	CIC_ENST00000572681.2_Silent_p.L1966L|CIC_ENST00000160740.3_Silent_p.L1057L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1057	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCCCCTGCTCTCAGGTGAGG	0.667			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													19	22	21					19																	42796614		2195	4280	6475	SO:0001819	synonymous_variant	0			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.3171C>T	19.37:g.42796614C>T			Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.L1057	ENST00000575354.2	37	c.3171	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	-	0	18	0	C			42796614	1	tier1	-	no_errors	ENST00000575354	ensembl	human	known	74_37	silent	26.09	17	6	SNP	1.000	T	T	42796614	C	T	42796614	2	4	118	1	0	0	0	0	0	0	0	1	3431	900	32	3		3	CIC	19	42796614	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	713974	42796614	16332369	214	31410											
PVR	5817	genome.wustl.edu	37	chr19	45150678	45150678	+	Missense_Mutation	SNP	A	A	T	1	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	gcagggccccagctattcggAgtccaaacggctggaattcg	9	7	13	12	3	0	0	0	0	0	0	3	2	1	2	3	4	2	3	3	4	3	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:45150678A>T	ENST00000425690.3	+	2	562	c.263A>T	c.(262-264)gAg>gTg	p.E88V	PVR_ENST00000403059.4_Missense_Mutation_p.E88V|PVR_ENST00000406449.4_Missense_Mutation_p.E88V|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.E88V	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	88	Ig-like V-type.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|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)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	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)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		AGCTATTCGGAGTCCAAACGG	0.602																																																	0													47	38	41					19																	45150678		2203	4300	6503	SO:0001583	missense	0			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9705	protein-coding gene	gene with protein product	"nectin-like 5"	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.263A>T	19.37:g.45150678A>T	ENSP00000402060:p.Glu88Val		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E88V	ENST00000425690.3	37	c.263	CCDS12640.1	19	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226728	0.58668	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	4.79	2.3	0.28687	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.516800	0.03923	N	0.283891	T	0.79736	0.4497	M	0.74647	2.275	0.09310	N	1	D;D;D;P	0.71674	0.998;0.974;0.987;0.858	D;P;D;D	0.70716	0.97;0.892;0.94;0.922	T	0.54583	-0.8272	10	0.33940	T	0.23	.	6.4197	0.21736	0.7609:0.0:0.2391:0.0	.	88;88;88;88	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	V	88	ENSP00000340870:E88V;ENSP00000402060:E88V;ENSP00000383907:E88V;ENSP00000385344:E88V	ENSP00000340870:E88V	E	+	2	0	PVR	49842518	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.990000	0.29642	0.693000	0.31634	0.386000	0.25728	GAG	PVR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000073008		0.602	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	HGNC	protein_coding	OTTHUMT00000323017.2	-	0	62	0	A	NM_006505		45150678	1	tier1	-	no_errors	ENST00000425690	ensembl	human	known	74_37	missense	22.39	52	15	SNP	0.000	T	T	45150678	A	T	45150678	3	4	118	1	0	0	0	0	1	0	0	0	12882	304	11	5	269	5	PVR	19	45150678	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	2354064	45150678	13978305	215	31411											
CYTH2	9266	genome.wustl.edu	37	chr19	48976633	48976633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaatctggtgcaggccctCaggtgagtgagggggagggg	7	7	19	8	0	3	2	2	2	1	0	3	3	3	3	1	7	1	1	1	7	1	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:48976633C>T	ENST00000452733.2	+	5	908	c.432C>T	c.(430-432)ctC>ctT	p.L144L	CYTH2_ENST00000427476.1_Silent_p.L144L			Q99418	CYH2_HUMAN	cytohesin 2	144	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGCAGGCCCTCAGGTGAGTGA	0.502																																																	0													84	72	76					19																	48976633		2203	4300	6503	SO:0001819	synonymous_variant	0			X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"Pleckstrin homology (PH) domain containing"	9502	protein-coding gene	gene with protein product		602488	"pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)", "pleckstrin homology, Sec7 and coiled-coil domains 2"	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.432C>T	19.37:g.48976633C>T			A8K8P0|Q8IXY9|Q92958	Silent	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.L144	ENST00000452733.2	37	c.432	CCDS12722.1	19																																																																																			CYTH2	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000105443		0.502	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYTH2	HGNC	protein_coding	OTTHUMT00000317060.1	-	0	57	0	C	NM_004228		48976633	1	tier1	-	no_errors	ENST00000427476	ensembl	human	known	74_37	silent	27.91	31	12	SNP	1.000	T	T	48976633	C	T	48976633	2	4	118	1	0	0	0	0	0	0	0	1	4213	813	29	3		3	CYTH2	19	48976633	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	3825955	48976633	10152350	216	31412											
ZNF534	147658	genome.wustl.edu	37	chr19	52941164	52941164	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtttcaccagttcaaataAgttttttcagtgtcaaaacc	13	14	5	9	0	4	0	4	0	0	0	4	0	4	0	2	0	1	3	2	0	4	6			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:52941164A>C	ENST00000332323.6	+	4	551	c.490A>C	c.(490-492)Agt>Cgt	p.S164R	ZNF534_ENST00000433050.1_Missense_Mutation_p.S151R|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S164R(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AGTTCAAATAAGTTTTTTCAG	0.323																																																	1	Substitution - Missense(1)	lung(1)											82	75	77					19																	52941164		1568	3582	5150	SO:0001583	missense	0			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.490A>C	19.37:g.52941164A>C	ENSP00000327538:p.Ser164Arg		Q76KX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S164R	ENST00000332323.6	37	c.490	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364031	0.24684	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.07114	3.22;3.27	1.61	1.61	0.23674	.	.	.	.	.	T	0.05410	0.0143	L	0.38692	1.165	0.09310	N	1	B;P	0.41102	0.002;0.738	B;B	0.32624	0.001;0.149	T	0.35525	-0.9785	9	0.56958	D	0.05	.	3.7291	0.08485	0.6629:0.0:0.0:0.337	.	151;164	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	R	164;151;163	ENSP00000327538:S164R;ENSP00000391358:S151R	ENSP00000327538:S164R	S	+	1	0	ZNF534	57632976	0.001000	0.12720	0.003000	0.11579	0.164000	0.22412	0.753000	0.26376	0.712000	0.32039	0.164000	0.16699	AGT	ZNF534	-	NULL	ENSG00000198633		0.323	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	-	0	12	0	A	NM_182512		52941164	1	tier1	-	no_errors	ENST00000332323	ensembl	human	known	74_37	missense	28.57	10	4	SNP	0.001	C	C	52941164	A	C	52941164	3	2	118	1	0	0	0	0	1	0	0	0	18021	72	3	4	504	4	ZNF534	19	52941164	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	3964531	52941164	6187819	217	31413											
NLRP2	55655	genome.wustl.edu	37	chr19	55501422	55501422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccgctaccactcagcagtGggctgatctctccttggccc	5	11	9	16	1	2	1	1	1	1	0	5	1	4	1	4	2	2	3	4	2	1	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:55501422G>T	ENST00000543010.1	+	9	2542	c.2399G>T	c.(2398-2400)tGg>tTg	p.W800L	NLRP2_ENST00000537859.1_Missense_Mutation_p.W778L|NLRP2_ENST00000391721.4_Missense_Mutation_p.W776L|NLRP2_ENST00000427260.2_Missense_Mutation_p.W777L|NLRP2_ENST00000448584.2_Missense_Mutation_p.W800L|NLRP2_ENST00000263437.6_Missense_Mutation_p.W797L|NLRP2_ENST00000538819.1_Missense_Mutation_p.W776L|NLRP2_ENST00000339757.7_Missense_Mutation_p.W778L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	800					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACTCAGCAGTGGGCTGATCTC	0.488																																																	0													122	107	112					19																	55501422		2203	4300	6503	SO:0001583	missense	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2399G>T	19.37:g.55501422G>T	ENSP00000445135:p.Trp800Leu		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.W800L	ENST00000543010.1	37	c.2399	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340304	0.24339	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	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	2.51	1.4	0.22301	.	.	.	.	.	T	0.48277	0.1491	M	0.76002	2.32	0.09310	N	1	B;P;P;P;P	0.47034	0.349;0.889;0.714;0.811;0.714	B;P;B;P;B	0.49665	0.143;0.618;0.414;0.618;0.414	T	0.33523	-0.9865	9	0.46703	T	0.11	.	6.3452	0.21345	0.0:0.0:0.7062:0.2938	.	777;778;797;776;800	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	L	800;776;778;800;778;777;776;797	ENSP00000445135:W800L;ENSP00000375601:W776L;ENSP00000344074:W778L;ENSP00000409370:W800L;ENSP00000440601:W778L;ENSP00000402474:W777L;ENSP00000441133:W776L;ENSP00000263437:W797L	ENSP00000263437:W797L	W	+	2	0	NLRP2	60193234	0.848000	0.29623	0.048000	0.18961	0.029000	0.11900	0.920000	0.28705	0.579000	0.29504	0.650000	0.86243	TGG	NLRP2	-	NULL	ENSG00000022556		0.488	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	-	0	30	0	G	NM_017852		55501422	1	tier1	-	no_errors	ENST00000448584	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.067	T	T	55501422	G	T	55501422	3	4	118	1	0	0	0	0	1	0	0	0	10516	1357	47	3	2429	3	NLRP2	19	55501422	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	2560258	55501422	3627561	218	31414											
ZNF579	163033	genome.wustl.edu	37	chr19	56089494	56089494	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttccttaatgtttgcGaggggcagcgggagcccttc	5	11	14	11	2	1	0	0	0	1	0	3	2	2	1	2	4	3	3	2	4	1	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr19:56089494G>T	ENST00000325421.4	-	2	1540	c.1512C>A	c.(1510-1512)ctC>ctA	p.L504L	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	504	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)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		TAATGTTTGCGAGGGGCAGCG	0.721																																																	0													13	13	13					19																	56089494		2068	4098	6166	SO:0001819	synonymous_variant	0			AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"Zinc fingers, C2H2-type"	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.1512C>A	19.37:g.56089494G>T				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L504	ENST00000325421.4	37	c.1512	CCDS12927.1	19																																																																																			ZNF579	-	NULL	ENSG00000218891		0.721	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF579	HGNC	protein_coding	OTTHUMT00000453348.1		0	57	0	G	NM_152600		56089494	-1			no_errors	ENST00000325421	ensembl	human	known	74_37	silent	18.00	41	9	SNP	0.000	T	T	56089494	G	T	56089494	2	4	118	1	0	0	0	0	0	0	0	1	18059	1045	37	2		2	ZNF579	19	56089494	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	588072	56089494	3039489	219	31415											
ANKRD5	63926	genome.wustl.edu	37	chr20	10030832	10030832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgtgcaagtggaaacataGatgtggtcaagtttcttctt	10	14	11	6	1	3	1	1	0	2	1	3	2	3	2	0	2	2	2	0	2	4	4			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr20:10030832G>C	ENST00000378380.3	+	6	1944	c.1615G>C	c.(1615-1617)Gat>Cat	p.D539H	ANKEF1_ENST00000378392.1_Missense_Mutation_p.D539H|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	539							calcium ion binding (GO:0005509)										TGGAAACATAGATGTGGTCAA	0.433																																																	0													50	51	50					20																	10030832		2203	4298	6501	SO:0001583	missense	0			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1615G>C	20.37:g.10030832G>C	ENSP00000367631:p.Asp539His		B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt	p.D539H	ENST00000378380.3	37	c.1615	CCDS13108.1	20	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814309	0.70912	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.66638	-0.22;-0.22	5.65	5.65	0.86999	Ankyrin repeat-containing domain (4);	0.373751	0.35936	N	0.002893	T	0.68412	0.2998	L	0.60957	1.885	0.48975	D	0.999731	P	0.35107	0.484	B	0.42030	0.373	T	0.70930	-0.4738	10	0.87932	D	0	0.2511	13.313	0.60390	0.0725:0.0:0.9275:0.0	.	539	Q9NU02	ANKR5_HUMAN	H	539	ENSP00000367644:D539H;ENSP00000367631:D539H	ENSP00000367631:D539H	D	+	1	0	ANKRD5	9978832	1.000000	0.71417	0.693000	0.30195	0.766000	0.43426	6.984000	0.76186	2.817000	0.96982	0.563000	0.77884	GAT	ANKEF1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000132623		0.433	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKEF1	HGNC	protein_coding	OTTHUMT00000077968.2	-	0	50	0	G	NM_022096		10030832	1	tier1	-	no_errors	ENST00000378380	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.953	C	C	10030832	G	C	10030832	3	2	118	1	0	0	0	0	1	0	0	0	676	942	33	5	1633	5	ANKRD5	20	10030832	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09		10030832	52994688	220	31416											
TMEM90B	79953	genome.wustl.edu	37	chr20	24524206	24524206	+	Missense_Mutation	SNP	A	A	G	1	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	ggaggaggaggagttccaggAgctggaggtcacaggatgtg	10	6	20	5	0	1	0	1	0	0	0	2	7	2	7	1	8	1	2	1	8	0	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr20:24524206A>G	ENST00000376862.3	+	2	1106	c.473A>G	c.(472-474)gAg>gGg	p.E158G		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	158					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						GAGTTCCAGGAGCTGGAGGTC	0.527																																																	0													75	81	79					20																	24524206		2202	4298	6500	SO:0001583	missense	0			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.473A>G	20.37:g.24524206A>G	ENSP00000366058:p.Glu158Gly		Q6IA30|Q9H514	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.E158G	ENST00000376862.3	37	c.473	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	A	19.02	3.746588	0.69418	.	.	ENSG00000101463	ENST00000376862	D	0.92446	-3.04	5.7	5.7	0.88788	.	0.120960	0.53938	D	0.000043	D	0.91998	0.7465	M	0.73962	2.25	0.80722	D	1	P	0.46395	0.877	B	0.43360	0.417	D	0.92198	0.5765	10	0.51188	T	0.08	-27.4696	13.9287	0.63981	1.0:0.0:0.0:0.0	.	158	Q9H7V2	SYNG1_HUMAN	G	158	ENSP00000366058:E158G	ENSP00000366058:E158G	E	+	2	0	SYNDIG1	24472206	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	8.519000	0.90563	2.186000	0.69663	0.533000	0.62120	GAG	SYNDIG1	-	NULL	ENSG00000101463		0.527	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	-	0	11	0	A	NM_024893		24524206	1	tier1	-	no_errors	ENST00000376862	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	G	G	24524206	A	G	24524206	3	3	118	1	0	0	0	0	1	0	0	0	16266	304	11	4	475	4	TMEM90B	20	24524206	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	14493374	24524206	38501314	221	31417											
DEFB123	245936	genome.wustl.edu	37	chr20	30037842	30037842	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtgtcaggtggcacccaAagatgctggaatctttatgg	9	13	12	7	0	2	1	1	0	1	1	2	2	2	2	1	4	1	2	1	4	3	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr20:30037842A>G	ENST00000376309.3	+	2	249	c.69A>G	c.(67-69)caA>caG	p.Q23Q		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	23					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTGGCACCCAAAGATGCTGGA	0.423																																																	0													151	150	150					20																	30037842		2203	4300	6503	SO:0001819	synonymous_variant	0			AA933749	CCDS13180.1	20q11.1	2008-07-17			ENSG00000180424	ENSG00000180424		"Defensins, beta"	18103	protein-coding gene	gene with protein product	"beta defensin 23"					11854508	Standard	NM_153324		Approved	DEFB-23	uc002wvy.3	Q8N688	OTTHUMG00000032170	ENST00000376309.3:c.69A>G	20.37:g.30037842A>G				Silent	SNP	NULL	p.Q23	ENST00000376309.3	37	c.69	CCDS13180.1	20																																																																																			DEFB123	-	NULL	ENSG00000180424		0.423	DEFB123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB123	HGNC	protein_coding	OTTHUMT00000078510.2	-	0	51	0	A	NM_153324		30037842	1	tier1	-	no_errors	ENST00000376309	ensembl	human	known	74_37	silent	27.27	48	18	SNP	0.278	G	G	30037842	A	G	30037842	2	3	118	1	0	0	0	0	0	0	0	1	4422	11	1	4		4	DEFB123	20	30037842	Silent	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	5513636	30037842	32987678	222	31418											
ZNF341	84905	genome.wustl.edu	37	chr20	32341071	32341071	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccccaccgccaccacctCagcctccaccacctccaccc	7	4	3	27	1	1	0	1	0	0	0	3	0	3	0	12	0	2	0	12	0	0	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr20:32341071C>T	ENST00000375200.1	+	5	948	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	ZNF341_ENST00000342427.2_Nonsense_Mutation_p.Q195*	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	195					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(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						gccaccacctcagcctccacc	0.672																																																	0													27	29	29					20																	32341071		2202	4299	6501	SO:0001587	stop_gained	0			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.583C>T	20.37:g.32341071C>T	ENSP00000364346:p.Gln195*		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q195*	ENST00000375200.1	37	c.583		20	.	.	.	.	.	.	.	.	.	.	C	34	5.403416	0.96051	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	.	.	.	5.12	5.12	0.69794	.	0.512436	0.20538	N	0.090380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5309	18.1691	0.89739	0.0:1.0:0.0:0.0	.	.	.	.	X	195	.	ENSP00000344308:Q195X	Q	+	1	0	ZNF341	31804732	0.990000	0.36364	0.247000	0.24249	0.102000	0.19082	5.983000	0.70540	2.393000	0.81446	0.563000	0.77884	CAG	ZNF341	-	NULL	ENSG00000131061		0.672	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		-	0	30	0	C			32341071	1	tier1	-	no_errors	ENST00000375200	ensembl	human	known	74_37	nonsense	18.18	54	12	SNP	0.994	T	T	32341071	C	T	32341071	4	4	118	1	0	0	0	0	0	1	0	0	17905	827	29	3	601	3	ZNF341	20	32341071	Nonsense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	2303229	32341071	30684449	223	31419											
PRIC285	85441	genome.wustl.edu	37	chr20	62194954	62194954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgtccaccacgaagcccaGcttgtccagaggctgggcct	8	6	11	16	2	0	1	0	0	0	1	2	2	2	1	5	2	2	2	5	2	1	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr20:62194954G>A	ENST00000467148.1	-	8	5290	c.5221C>T	c.(5221-5223)Ctg>Ttg	p.L1741L	HELZ2_ENST00000427522.2_Silent_p.L1172L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1741					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)										ACGAAGCCCAGCTTGTCCAGA	0.706																																																	0													7	9	8					20																	62194954		2096	4173	6269	SO:0001819	synonymous_variant	0			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.5221C>T	20.37:g.62194954G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	superfamily_P-loop_NTPase	p.L1741	ENST00000467148.1	37	c.5221	CCDS33508.1	20																																																																																			HELZ2	-	NULL	ENSG00000130589		0.706	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0	31	0	G	NM_001037335		62194954	-1	tier1	-	no_errors	ENST00000467148	ensembl	human	known	74_37	silent	47.62	11	10	SNP	0.996	A	A	62194954	G	A	62194954	2	1	118	1	0	0	0	0	0	0	0	1	12527	962	34	3		3	PRIC285	20	62194954	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	29853883	62194954	830566	224	31420											
APP	351	genome.wustl.edu	37	chr21	27462296	27462296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaaagtggggatgggtCttgcactgcttgcggccccg	7	9	14	11	2	2	0	1	0	1	0	2	1	2	1	2	4	3	2	2	4	1	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr21:27462296C>A	ENST00000346798.3	-	3	351	c.318G>T	c.(316-318)aaG>aaT	p.K106N	APP_ENST00000354192.3_Missense_Mutation_p.K50N|APP_ENST00000359726.3_Missense_Mutation_p.K106N|APP_ENST00000357903.3_Missense_Mutation_p.K106N|APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_Missense_Mutation_p.K101N|APP_ENST00000439274.2_Missense_Mutation_p.K50N|APP_ENST00000348990.5_Missense_Mutation_p.K106N|APP_ENST00000358918.3_Missense_Mutation_p.K106N|APP_ENST00000448388.2_Missense_Mutation_p.K71N	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	106	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)				GGGGATGGGTCTTGCACTGCT	0.582																																																	0													149	123	132					21																	27462296		2203	4300	6503	SO:0001583	missense	0			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.318G>T	21.37:g.27462296C>A	ENSP00000284981:p.Lys106Asn		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.K106N	ENST00000346798.3	37	c.318	CCDS13576.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.16|17.16	3.319932|3.319932	0.60634|0.60634	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000448850|ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274	.|D;D;D;D;D;D;D;D;D	.|0.96940	.|-2.22;-4.18;-4.17;-2.21;-2.05;-4.17;-4.14;-2.22;-2.23	5.75|5.75	4.87|4.87	0.63330|0.63330	.|Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	.|0.114379	.|0.64402	.|D	.|0.000018	D|D	0.96185|0.96185	0.8756|0.8756	M|M	0.77486|0.77486	2.375|2.375	0.58432|0.58432	D|D	0.999998|0.999998	.|B;B;P;P;B;B;B;P	.|0.38395	.|0.012;0.443;0.629;0.626;0.389;0.22;0.111;0.629	.|B;B;B;B;B;B;B;B	.|0.42555	.|0.013;0.131;0.242;0.391;0.055;0.129;0.089;0.242	D|D	0.95915|0.95915	0.8926|0.8926	5|10	.|0.66056	.|D	.|0.02	-31.3014|-31.3014	13.6738|13.6738	0.62440|0.62440	0.0:0.9245:0.0:0.0755|0.0:0.9245:0.0:0.0755	.|.	.|106;71;50;101;50;106;106;106	.|P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.|.;.;.;.;.;.;.;A4_HUMAN	Y|N	28|106;50;106;106;106;106;71;101;50	.|ENSP00000284981:K106N;ENSP00000346129:K50N;ENSP00000345463:K106N;ENSP00000350578:K106N;ENSP00000351796:K106N;ENSP00000352760:K106N;ENSP00000388538:K71N;ENSP00000387483:K101N;ENSP00000398879:K50N	.|ENSP00000284981:K106N	D|K	-|-	1|3	0|2	APP|APP	26384167|26384167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	2.975000|2.975000	0.49281|0.49281	1.441000|1.441000	0.47550|0.47550	0.650000|0.650000	0.86243|0.86243	GAC|AAG	APP	-	pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_heparin-bd,smart_Amyloid_glyco_extra	ENSG00000142192		0.582	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	-	0	96	0	C	NM_000484		27462296	-1	tier1	-	no_errors	ENST00000346798	ensembl	human	known	74_37	missense	71.13	28	69	SNP	1.000	A	A	27462296	C	A	27462296	3	1	118	1	0	0	0	0	1	0	0	0	815	912	32	3	2058	3	APP	21	27462296	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09		27462296	20667599	225	31421											
SLC5A3	6526	genome.wustl.edu	37	chr21	35468056	35468056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgatctacacagacactCtgcaggctctgctcatgatc	10	10	8	13	0	4	3	1	2	3	1	5	3	4	3	0	1	3	3	0	1	1	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr21:35468056C>G	ENST00000381151.3	+	2	1071	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V	SLC5A3_ENST00000608209.1_Missense_Mutation_p.L187V|MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	187					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)	p.L187M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CACAGACACTCTGCAGGCTCT	0.463																																																	1	Substitution - Missense(1)	large_intestine(1)											101	94	96					21																	35468056		2203	4300	6503	SO:0001583	missense	0				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.559C>G	21.37:g.35468056C>G	ENSP00000370543:p.Leu187Val		O43489	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L187V	ENST00000381151.3	37	c.559	CCDS33549.1	21	.	.	.	.	.	.	.	.	.	.	C	9.157	1.017790	0.19355	.	.	ENSG00000198743	ENST00000381151	D	0.88354	-2.37	5.72	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.80576	0.4649	L	0.31752	0.955	0.44175	D	0.996986	P	0.43857	0.819	B	0.39771	0.309	T	0.75291	-0.3369	10	0.30854	T	0.27	.	8.4507	0.32869	0.0:0.7311:0.1277:0.1413	.	187	P53794	SC5A3_HUMAN	V	187	ENSP00000370543:L187V	ENSP00000370543:L187V	L	+	1	2	SLC5A3	34389926	0.818000	0.29161	0.468000	0.27192	0.992000	0.81027	1.639000	0.37176	0.774000	0.33427	0.609000	0.83330	CTG	SLC5A3	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000198743		0.463	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	SLC5A3	HGNC	protein_coding	OTTHUMT00000141037.1	-	0	48	0	C			35468056	1	tier1	-	no_errors	ENST00000381151	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.962	G	G	35468056	C	G	35468056	3	3	118	1	0	0	0	0	1	0	0	0	14711	912	32	5	561	5	SLC5A3	21	35468056	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	8005760	35468056	12661839	226	31422											
GSTT2	653689	genome.wustl.edu	37	chr22	24300541	24300541	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcgaggaagggcctgtcCcccaggaacttgtcctccag	8	6	12	15	1	0	0	0	0	0	0	3	3	3	2	6	3	2	0	6	3	2	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr22:24300541C>A	ENST00000290765.4	-	4	510	c.456G>T	c.(454-456)ggG>ggT	p.G152G	GSTT2B_ENST00000404172.3_Silent_p.G152G	NM_001080843.2	NP_001074312.1	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2B (gene/pseudogene)	152	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)										AGGGCCTGTCCCCCAGGAACT	0.642																																																	0													13	11	12					22																	24300541		2182	4247	6429	SO:0001819	synonymous_variant	0			BC071700	CCDS33617.1	22q11.23	2012-06-21			ENSG00000133433	ENSG00000133433	2.5.1.18	"Glutathione S-transferases / Soluble"	33437	protein-coding gene	gene with protein product						9729470	Standard	NM_001080843		Approved	GSTT2P		P0CG30	OTTHUMG00000150774	ENST00000290765.4:c.456G>T	22.37:g.24300541C>A			O60665|P30712|Q6IPV7|Q9HD76	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.G152	ENST00000290765.4	37	c.456	CCDS33617.1	22																																																																																			GSTT2B	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	ENSG00000133433		0.642	GSTT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTT2B	HGNC	protein_coding	OTTHUMT00000320012.1	-	0	63	0	C	NM_001080843		24300541	-1	tier1	-	no_errors	ENST00000290765	ensembl	human	known	74_37	silent	43.86	32	25	SNP	0.489	A	A	24300541	C	A	24300541	2	1	118	1	0	0	0	0	0	0	0	1	6873	610	22	3		3	GSTT2	22	24300541	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09		24300541	27004025	227	31423											
GSTT2	2953	genome.wustl.edu	37	chr22	24325166	24325166	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggaggacaagttcctgggGgacaggcccttcctcgctgg	6	8	15	12	1	0	0	0	0	0	0	3	3	2	3	3	6	0	2	3	6	1	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr22:24325166G>T	ENST00000215780.5	+	4	506	c.456G>T	c.(454-456)ggG>ggT	p.G152G	GSTT2_ENST00000402588.3_Silent_p.G152G|DDT_ENST00000404092.1_5'Flank	NM_000854.3	NP_000845.1	P0CG29	GST2_HUMAN	glutathione S-transferase theta 2	152	GST C-terminal.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			lung(1)	1						AGTTCCTGGGGGACAGGCCCT	0.632																																																	0													14	15	15					22																	24325166		2049	3955	6004	SO:0001819	synonymous_variant	0			L38503		22q11.23	2012-06-21			ENSG00000099984	ENSG00000099984	2.5.1.18	"Glutathione S-transferases / Soluble"	4642	protein-coding gene	gene with protein product		600437				7789971, 9729470	Standard	NM_000854		Approved		uc002zyw.4	P0CG29	OTTHUMG00000150786	ENST00000215780.5:c.456G>T	22.37:g.24325166G>T			O60665|P30712|Q6IPV7|Q9HD76	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.G152	ENST00000215780.5	37	c.456	CCDS13821.1	22																																																																																			GSTT2	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	ENSG00000099984		0.632	GSTT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTT2	HGNC	protein_coding	OTTHUMT00000320080.1		0	45	0	G	NM_000854		24325166	1			no_errors	ENST00000215780	ensembl	human	known	74_37	silent	7.27	49	4	SNP	0.504	T	T	24325166	G	T	24325166	2	4	118	1	0	0	0	0	0	0	0	1	6873	1219	43	3		3	GSTT2	22	24325166	Silent	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	24625	24325166	26979400	228	31424											
CYTSA	23384	genome.wustl.edu	37	chr22	24807589	24807589	+	Missense_Mutation	SNP	A	A	G	1	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	caaacttcagcagcagctggAatgatgggctggccttctgt	9	10	12	10	0	2	1	1	1	1	0	2	2	2	2	1	3	4	4	1	3	2	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr22:24807589A>G	ENST00000314328.9	+	15	3406	c.3121A>G	c.(3121-3123)Aat>Gat	p.N1041D	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000437398.1_Missense_Mutation_p.N1041D|SPECC1L_ENST00000541492.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1041	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.			N -> K (in Ref. 4; BAA21574). {ECO:0000305}.	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)		p.N1041D(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CAGCAGCTGGAATGATGGGCT	0.493																																																	1	Substitution - Missense(1)	large_intestine(1)											132	119	123					22																	24807589		2203	4300	6503	SO:0001583	missense	0			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.3121A>G	22.37:g.24807589A>G	ENSP00000325785:p.Asn1041Asp		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain	p.N1041D	ENST00000314328.9	37	c.3121	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477335	0.84640	.	.	ENSG00000100014	ENST00000437398;ENST00000314328	D;D	0.94931	-3.56;-3.56	5.65	5.65	0.86999	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98085	1.0406	10	0.66056	D	0.02	-37.4973	15.0577	0.71927	1.0:0.0:0.0:0.0	.	1041	Q69YQ0	CYTSA_HUMAN	D	1041	ENSP00000393363:N1041D;ENSP00000325785:N1041D	ENSP00000325785:N1041D	N	+	1	0	SPECC1L	23137589	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	8.625000	0.90965	2.154000	0.67381	0.459000	0.35465	AAT	SPECC1L	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000100014		0.493	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	-	0	45	0	A	NM_015330		24807589	1	tier1	-	no_errors	ENST00000314328	ensembl	human	known	74_37	missense	40.74	32	22	SNP	1.000	G	G	24807589	A	G	24807589	3	3	118	1	0	0	0	0	1	0	0	0	4218	246	9	4	3171	4	CYTSA	22	24807589	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	482423	24807589	26496977	229	31425											
MYO18B	84700	genome.wustl.edu	37	chr22	26298604	26298604	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctgcagctggcccaggcCctaggtgagtcagtgtttga	7	9	14	11	0	1	2	1	2	0	0	1	3	1	2	3	3	2	3	3	3	1	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr22:26298604C>A	ENST00000407587.2	+	30	5020	c.4851C>A	c.(4849-4851)gcC>gcA	p.A1617A	CTA-125H2.2_ENST00000609570.1_RNA|MYO18B_ENST00000536204.1_3'UTR|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000595093.1_RNA|MYO18B_ENST00000335473.7_Silent_p.A1616A|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|MYO18B_ENST00000536101.1_Silent_p.A1616A|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1616	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						TGGCCCAGGCCCTAGGTGAGT	0.622																																																	0													41	44	43					22																	26298604		1980	4163	6143	SO:0001819	synonymous_variant	0			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.4851C>A	22.37:g.26298604C>A			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1616	ENST00000407587.2	37	c.4848		22																																																																																			MYO18B	-	NULL	ENSG00000133454		0.622	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	70	0	C	NM_032608		26298604	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	silent	29.76	59	25	SNP	0.996	A	A	26298604	C	A	26298604	2	1	118	1	0	0	0	0	0	0	0	1	10104	610	22	3		3	MYO18B	22	26298604	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	1491015	26298604	25005962	230	31426											
SEZ6L	23544	genome.wustl.edu	37	chr22	26773696	26773696	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactcccacccctacagccaGatcaccgtggaaaccgagtt	11	7	7	16	2	1	1	1	0	0	1	2	3	2	2	6	1	4	1	6	1	3	3	rs529920388		TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr22:26773696G>C	ENST00000248933.6	+	16	3095	c.3000G>C	c.(2998-3000)caG>caC	p.Q1000H	SEZ6L_ENST00000343706.4_Missense_Mutation_p.Q924H|SEZ6L_ENST00000411842.2_3'UTR|SEZ6L_ENST00000529632.2_Missense_Mutation_p.Q989H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.Q696H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.Q925H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.Q772H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.Q999H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	1000					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						CCTACAGCCAGATCACCGTGG	0.522																																																	0													188	157	167					22																	26773696		2203	4300	6503	SO:0001583	missense	0			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.3000G>C	22.37:g.26773696G>C	ENSP00000248933:p.Gln1000His		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Q1000H	ENST00000248933.6	37	c.3000	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904180	0.72754	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.29397	1.86;2.01;2.15;1.88;1.7;1.57;1.85	4.58	4.58	0.56647	.	0.000000	0.53938	D	0.000050	T	0.41858	0.1177	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.997;0.999;0.995;0.999;0.999	D;D;D;D;D;D;D	0.85130	0.995;0.997;0.989;0.997;0.989;0.997;0.997	T	0.17289	-1.0374	10	0.30854	T	0.27	.	16.127	0.81402	0.0:0.0:1.0:0.0	.	987;989;696;924;925;999;1000	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	H	999;989;925;1000;924;696;772	ENSP00000384772:Q999H;ENSP00000437037:Q989H;ENSP00000354185:Q925H;ENSP00000248933:Q1000H;ENSP00000342661:Q924H;ENSP00000384838:Q696H;ENSP00000384733:Q772H	ENSP00000248933:Q1000H	Q	+	3	2	SEZ6L	25103696	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.746000	0.55127	2.379000	0.81126	0.462000	0.41574	CAG	SEZ6L	-	NULL	ENSG00000100095		0.522	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	-	0	59	0	G			26773696	1	tier1	-	no_errors	ENST00000248933	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	C	C	26773696	G	C	26773696	3	2	118	1	0	0	0	0	1	0	0	0	14188	933	33	5	3062	5	SEZ6L	22	26773696	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09	475092	26773696	24530870	231	31427											
TAB1	10454	genome.wustl.edu	37	chr22	39824121	39824121	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccttgtcatgccctccCagggccagatggtcaacggg	6	9	11	15	1	3	1	2	0	1	1	5	1	4	1	4	3	2	0	4	3	1	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr22:39824121C>T	ENST00000216160.6	+	10	1302	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	TAB1_ENST00000331454.3_Nonsense_Mutation_p.Q414*	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	414					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						CATGCCCTCCCAGGGCCAGAT	0.632																																																	0													153	113	127					22																	39824121		2203	4300	6503	SO:0001587	stop_gained	0			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.1240C>T	22.37:g.39824121C>T	ENSP00000216160:p.Gln414*		Q2PP09|Q8IZW2	Nonsense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.Q414*	ENST00000216160.6	37	c.1240	CCDS13993.1	22	.	.	.	.	.	.	.	.	.	.	C	32	5.168903	0.94768	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-23.4367	19.4258	0.94741	0.0:1.0:0.0:0.0	.	.	.	.	X	414	.	ENSP00000216160:Q414X	Q	+	1	0	TAB1	38154067	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.360000	0.79487	2.582000	0.87167	0.650000	0.86243	CAG	TAB1	-	NULL	ENSG00000100324		0.632	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB1	HGNC	protein_coding	OTTHUMT00000321313.1		0	27	0	C	NM_153497		39824121	1			no_errors	ENST00000216160	ensembl	human	known	74_37	nonsense	8.57	32	3	SNP	1.000	T	T	39824121	C	T	39824121	4	4	118	1	0	0	0	0	0	1	0	0	15542	595	21	3	1278	3	TAB1	22	39824121	Nonsense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	13050425	39824121	11480445	232	31428											
PMM1	5372	genome.wustl.edu	37	chr22	41980059	41980059	+	Silent	SNP	T	T	C	0	1	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	ttccggaactcgatgaaggtTccactggtggtgagggaggg	8	9	17	7	2	0	2	0	2	0	0	3	5	2	4	2	6	1	1	2	6	2	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr22:41980059T>C	ENST00000216259.7	-	5	462	c.378A>G	c.(376-378)ggA>ggG	p.G126G	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	126					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						CGATGAAGGTTCCACTGGTGG	0.592																																																	0													83	75	78					22																	41980059		2203	4300	6503	SO:0001819	synonymous_variant	0				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.378A>G	22.37:g.41980059T>C			A8K003|Q92586	Silent	SNP	pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB	p.G126	ENST00000216259.7	37	c.378	CCDS14020.1	22																																																																																			PMM1	-	pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB	ENSG00000100417		0.592	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMM1	HGNC	protein_coding	OTTHUMT00000320711.3	-	0	37	0	T	NM_002676		41980059	-1	tier1	-	no_errors	ENST00000216259	ensembl	human	known	74_37	silent	24.39	31	10	SNP	0.433	C	C	41980059	T	C	41980059	2	2	118	1	0	0	0	0	0	0	0	1	12175	1770	62	4		4	PMM1	22	41980059	Silent	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	2155938	41980059	9324507	233	31429											
MEI1	150365	genome.wustl.edu	37	chr22	42180391	42180391	+	Missense_Mutation	SNP	A	A	T	1	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	accaagtattgaaggctctcAgctttccaaagaaaaaggct	15	9	8	9	0	1	2	1	1	1	1	3	2	2	2	2	2	1	4	2	2	6	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr22:42180391A>T	ENST00000401548.3	+	25	3176	c.3136A>T	c.(3136-3138)Agc>Tgc	p.S1046C	MEI1_ENST00000400107.1_Missense_Mutation_p.S379C|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Missense_Mutation_p.S54C	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAAGGCTCTCAGCTTTCCAAA	0.502																																																	0													72	71	72					22																	42180391		1884	4108	5992	SO:0001583	missense	0			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3136A>T	22.37:g.42180391A>T	ENSP00000384115:p.Ser1046Cys			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1046C	ENST00000401548.3	37	c.3136	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497660	0.64186	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000300398;ENST00000419798;ENST00000403492	T;T;T;T	0.67523	-0.24;-0.24;-0.27;-0.27	5.56	5.56	0.83823	.	0.435874	0.27345	N	0.019782	T	0.76183	0.3952	L	0.56769	1.78	0.35147	D	0.769392	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.99;0.99;0.999;1.0	D;D;D;P;P;P;D	0.91635	0.964;0.995;0.912;0.723;0.723;0.871;0.999	T	0.82466	-0.0443	10	0.59425	D	0.04	-20.3804	8.3212	0.32130	0.9121:0.0:0.0879:0.0	.	60;156;379;156;289;414;1046	B7Z735;Q6ZRK7;Q5TIA1-3;E9PB79;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;.;.;.;MEI1_HUMAN	C	1046;379;54;156;54	ENSP00000384115:S1046C;ENSP00000382978:S379C;ENSP00000300398:S54C;ENSP00000385298:S54C	ENSP00000300398:S54C	S	+	1	0	MEI1	40510337	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	3.795000	0.55499	2.122000	0.65172	0.460000	0.39030	AGC	MEI1	-	NULL	ENSG00000167077		0.502	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	-	0	59	0	A	NM_152513		42180391	1	tier1	-	no_errors	ENST00000401548	ensembl	human	known	74_37	missense	43.55	35	27	SNP	1.000	T	T	42180391	A	T	42180391	3	4	118	1	0	0	0	0	1	0	0	0	9503	188	7	5	3234	5	MEI1	22	42180391	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	200332	42180391	9124175	234	31430											
GRAMD4	23151	genome.wustl.edu	37	chr22	47022732	47022732	+	Silent	SNP	T	T	C	0	1	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	gacaaaatcaggttcagaggTcacaagagagatgacttcct	15	8	10	8	0	3	4	3	1	0	3	4	6	4	4	1	2	0	1	1	2	3	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr22:47022732T>C	ENST00000406902.1	+	2	249	c.36T>C	c.(34-36)ggT>ggC	p.G12G	GRAMD4_ENST00000361034.3_Silent_p.G12G			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	12					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GGTTCAGAGGTCACAAGAGAG	0.567																																																	0													167	136	147					22																	47022732		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.36T>C	22.37:g.47022732T>C			A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Silent	SNP	pfam_GRAM,smart_GRAM	p.G12	ENST00000406902.1	37	c.36	CCDS33672.1	22																																																																																			GRAMD4	-	NULL	ENSG00000075240		0.567	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	-	0	48	0	T	NM_015124		47022732	1	tier1	-	no_errors	ENST00000361034	ensembl	human	known	74_37	silent	34.21	25	13	SNP	1.000	C	C	47022732	T	C	47022732	2	2	118	1	0	0	0	0	0	0	0	1	6779	1654	58	4		4	GRAMD4	22	47022732	Silent	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	4842341	47022732	4281834	235	31431											
GRAMD4	23151	genome.wustl.edu	37	chr22	47072525	47072525	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtctgtcctcccaggctCaggcatggggattgccgtgt	4	11	13	13	1	2	0	1	0	1	0	4	1	4	1	4	4	1	2	4	4	0	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chr22:47072525C>G	ENST00000406902.1	+	18	1805	c.1592C>G	c.(1591-1593)tCa>tGa	p.S531*	GRAMD4_ENST00000408031.1_Nonsense_Mutation_p.S54*|GRAMD4_ENST00000361034.3_Nonsense_Mutation_p.S531*			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	531					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CTCCCAGGCTCAGGCATGGGG	0.662																																																	0													50	30	37					22																	47072525		1897	3604	5501	SO:0001587	stop_gained	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1592C>G	22.37:g.47072525C>G	ENSP00000385689:p.Ser531*		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Nonsense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.S531*	ENST00000406902.1	37	c.1592	CCDS33672.1	22	.	.	.	.	.	.	.	.	.	.	c	26.9	4.785738	0.90282	.	.	ENSG00000075240	ENST00000406902;ENST00000361034;ENST00000408031	.	.	.	4.24	4.24	0.50183	.	0.370808	0.21435	U	0.074589	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.4015	13.3649	0.60678	0.0:1.0:0.0:0.0	.	.	.	.	X	531;531;54	.	ENSP00000354313:S531X	S	+	2	0	GRAMD4	45451189	0.527000	0.26306	0.711000	0.30485	0.631000	0.37964	2.116000	0.41930	1.901000	0.55032	0.448000	0.29417	TCA	GRAMD4	-	NULL	ENSG00000075240		0.662	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	-	0	74	0	C	NM_015124		47072525	1	tier1	-	no_errors	ENST00000361034	ensembl	human	known	74_37	nonsense	16.30	77	15	SNP	0.780	G	G	47072525	C	G	47072525	4	3	118	1	0	0	0	0	0	1	0	0	6779	838	29	5	1658	5	GRAMD4	22	47072525	Nonsense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	49793	47072525	4232041	236	31432											
HDHD1A	8226	genome.wustl.edu	37	chrX	6995436	6995436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcggaccccgagctggtgGccagtgcaaaggggatgcca	9	4	16	12	3	0	0	0	0	0	0	0	3	0	2	4	5	3	2	4	5	1	0			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chrX:6995436G>A	ENST00000381077.5	-	3	411	c.335C>T	c.(334-336)gCc>gTc	p.A112V	HDHD1_ENST00000424830.2_Missense_Mutation_p.A135V|HDHD1_ENST00000540122.1_Missense_Mutation_p.A112V|HDHD1_ENST00000412827.2_Missense_Mutation_p.A69V	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	112					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						CGAGCTGGTGGCCAGTGCAAA	0.597																																																	0													50	50	50					X																	6995436		2070	4189	6259	SO:0001583	missense	0			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.335C>T	X.37:g.6995436G>A	ENSP00000370467:p.Ala112Val		B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA	p.A135V	ENST00000381077.5	37	c.404	CCDS48075.1	X	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912814	0.52439	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	3.88	3.88	0.44766	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.108992	0.64402	D	0.000008	T	0.17619	0.0423	M	0.64260	1.97	0.80722	D	1	D;P;D;D	0.89917	1.0;0.817;0.979;0.967	D;P;P;P	0.74674	0.984;0.692;0.905;0.793	T	0.00763	-1.1576	10	0.72032	D	0.01	-23.8194	14.2329	0.65906	0.0:0.0:1.0:0.0	.	112;69;135;112	Q08623-3;Q08623-2;E9PAV8;Q08623	.;.;.;HDHD1_HUMAN	V	112;128;69;135;112;112	ENSP00000370467:A112V;ENSP00000406260:A69V;ENSP00000396452:A135V;ENSP00000441208:A112V;ENSP00000430995:A112V	ENSP00000370467:A112V	A	-	2	0	HDHD1	7005436	1.000000	0.71417	0.966000	0.40874	0.061000	0.15899	4.811000	0.62606	1.713000	0.51359	0.513000	0.50165	GCC	HDHD1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA	ENSG00000130021		0.597	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD1	HGNC	protein_coding	OTTHUMT00000055683.2	-	0	69	0	G	NM_012080		6995436	-1	tier1	-	no_errors	ENST00000424830	ensembl	human	known	74_37	missense	88.00	12	88	SNP	1.000	A	A	6995436	G	A	6995436	3	1	118	1	0	0	0	0	1	0	0	0	7049	1203	42	3	480	3	HDHD1A	23	6995436	Missense_Mutation	SNP	G	TCGA-LN-A4A9-01A-11D-A28B-09		6995436	148275124	237	31433											
MAGEB4	4115	genome.wustl.edu	37	chrX	30260669	30260669	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaaatgctgaagatcatCagcaaaaagtacaaggagca	19	5	10	7	0	2	3	2	1	0	2	2	4	2	4	0	1	4	5	0	1	6	1			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chrX:30260669C>T	ENST00000378982.2	+	1	613	c.417C>T	c.(415-417)atC>atT	p.I139I	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	139	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGAAGATCATCAGCAAAAAGT	0.468																																																	0													57	43	48					X																	30260669		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.417C>T	X.37:g.30260669C>T			B2R9G0|Q6FHH4|Q8IZ00	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.I139	ENST00000378982.2	37	c.417	CCDS14221.1	X																																																																																			MAGEB4	-	pfam_MAGE,pfscan_MAGE	ENSG00000120289		0.468	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	HGNC	protein_coding	OTTHUMT00000056159.1	-	0	10	0	C	NM_002367		30260669	1	tier1	-	no_errors	ENST00000378982	ensembl	human	known	74_37	silent	37.50	15	9	SNP	0.000	T	T	30260669	C	T	30260669	2	4	118	1	0	0	0	0	0	0	0	1	9216	816	29	3		3	MAGEB4	23	30260669	Silent	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	23265233	30260669	125009891	238	31434											
SSX4	6759	genome.wustl.edu	37	chrX	48243539	48243539	+	Silent	SNP	T	T	A	0	1	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	aggagacccagggatgatgcTcaaatatcagagaagttacg	15	7	12	7	1	2	3	2	1	0	2	2	6	2	4	1	2	2	2	1	2	4	2			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chrX:48243539T>A	ENST00000376886.2	+	2	208	c.45T>A	c.(43-45)gcT>gcA	p.A15A	SSX4_ENST00000375517.3_Silent_p.A15A	NM_005636.3	NP_005627.1	O60224	SSX4_HUMAN	synovial sarcoma, X breakpoint 4	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)		SS18/SSX4(12)	lung(1)	1						GGGATGATGCTCAAATATCAG	0.572			T	SS18	synovial sarcoma																																			Dom	yes		X	Xp11.23	6759	"synovial sarcoma, X breakpoint 4"		M	0													1	1	1					X																	48243539		471	1327	1798	SO:0001819	synonymous_variant	0				CCDS35240.1, CCDS43934.1	Xp11.23	2009-06-17			ENSG00000204645	ENSG00000268009			11338	protein-coding gene	gene with protein product		300326					Standard	NM_005636		Approved	CT5.4		O60224	OTTHUMG00000022698	ENST00000376886.2:c.45T>A	X.37:g.48243539T>A			A8MYD4|B2RPE3|Q3SYD4|Q5JQZ0|Q9UJU9	Silent	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.A15	ENST00000376886.2	37	c.45	CCDS35240.1	X																																																																																			SSX4	-	NULL	ENSG00000204645		0.572	SSX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX4	HGNC	protein_coding	OTTHUMT00000058902.2	-	0	12	0	T			48243539	1	tier1	-	no_errors	ENST00000376886	ensembl	human	known	74_37	silent	61.54	5	8	SNP	0.000	A	A	48243539	T	A	48243539	2	1	118	1	0	0	0	0	0	0	0	1	15253	1538	54	5		5	SSX4	23	48243539	Silent	SNP	T	TCGA-LN-A4A9-01A-11D-A28B-09	17982870	48243539	107027021	239	31435											
BMP15	9210	genome.wustl.edu	37	chrX	50654013	50654013	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggagttgtaccggcgttCagctgactcgcatgggcacc	6	9	14	12	3	1	1	1	1	0	0	2	2	1	2	2	3	2	7	2	3	1	3			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chrX:50654013C>G	ENST00000252677.3	+	1	230	c.230C>G	c.(229-231)tCa>tGa	p.S77*		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	77					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)					TACCGGCGTTCAGCTGACTCG	0.592																																																	0													29	20	23					X																	50654013		2200	4294	6494	SO:0001587	stop_gained	0			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.230C>G	X.37:g.50654013C>G	ENSP00000252677:p.Ser77*		Q17RM6|Q5JST1|Q9UMS1	Nonsense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.S77*	ENST00000252677.3	37	c.230	CCDS14334.1	X	.	.	.	.	.	.	.	.	.	.	c	14.76	2.631213	0.46944	.	.	ENSG00000130385	ENST00000252677	.	.	.	5.9	1.93	0.25924	.	0.260930	0.38326	N	0.001725	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	8.2418	0.31665	0.271:0.4667:0.2623:0.0	.	.	.	.	X	77	.	ENSP00000252677:S77X	S	+	2	0	BMP15	50670753	0.950000	0.32346	0.435000	0.26784	0.113000	0.19764	1.713000	0.37951	0.612000	0.30071	-0.229000	0.12294	TCA	BMP15	-	NULL	ENSG00000130385		0.592	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	HGNC	protein_coding	OTTHUMT00000056572.1	-	0	18	0	C	NM_005448		50654013	1	tier1	-	no_errors	ENST00000252677	ensembl	human	known	74_37	nonsense	28.57	20	8	SNP	0.006	G	G	50654013	C	G	50654013	4	3	118	1	0	0	0	0	0	1	0	0	1460	838	29	5	232	5	BMP15	23	50654013	Nonsense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	2410474	50654013	104616547	240	31436											
TEX11	56159	genome.wustl.edu	37	chrX	69964046	69964046	+	Missense_Mutation	SNP	A	A	G	1	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	gcccagtagatttcttatccAtcttcccaatatcatagctt	10	15	4	12	0	3	1	1	0	2	1	5	1	5	1	3	0	1	2	3	0	5	7			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chrX:69964046A>G	ENST00000395889.2	-	11	916	c.761T>C	c.(760-762)aTg>aCg	p.M254T	TEX11_ENST00000374333.2_Missense_Mutation_p.M239T|TEX11_ENST00000344304.3_Missense_Mutation_p.M254T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	254					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)					TTTCTTATCCATCTTCCCAAT	0.239																																																	0													45	38	41					X																	69964046		2203	4289	6492	SO:0001583	missense	0			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.761T>C	X.37:g.69964046A>G	ENSP00000379226:p.Met254Thr		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.M254T	ENST00000395889.2	37	c.761	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	A	6.478	0.456337	0.12283	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.61859	0.07;0.07;0.07	3.66	1.1	0.20463	Tetratricopeptide-like helical (1);	0.338675	0.28349	N	0.015678	T	0.38825	0.1055	L	0.39397	1.21	0.24058	N	0.996026	B;B	0.21520	0.046;0.057	B;B	0.20955	0.019;0.032	T	0.14448	-1.0472	9	.	.	.	-3.3767	2.4536	0.04524	0.6244:0.0:0.1373:0.2384	.	239;254	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	239;254;254	ENSP00000363453:M239T;ENSP00000379226:M254T;ENSP00000340995:M254T	.	M	-	2	0	TEX11	69880771	1.000000	0.71417	0.826000	0.32828	0.704000	0.40688	1.982000	0.40638	-0.045000	0.13468	0.412000	0.27726	ATG	TEX11	-	pfam_Meiosis_specific_SPO22	ENSG00000120498		0.239	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	-	0	34	0	A			69964046	-1	tier1	-	no_errors	ENST00000344304	ensembl	human	known	74_37	missense	75.00	12	36	SNP	0.676	G	G	69964046	A	G	69964046	3	3	118	1	0	0	0	0	1	0	0	0	15821	217	8	4	2145	4	TEX11	23	69964046	Missense_Mutation	SNP	A	TCGA-LN-A4A9-01A-11D-A28B-09	19310033	69964046	85306514	241	31437											
UPF3B	65109	genome.wustl.edu	37	chrX	118979254	118979254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctactatagcgggatattCctgacctgtttagaaaaaaa	14	13	7	7	1	1	2	0	1	1	1	2	3	2	3	2	1	2	1	2	1	8	8			TCGA-LN-A4A9-01A-11D-A28B-09	TCGA-LN-A4A9-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3312754b-57aa-47bc-80a3-611d5a6a0822	ea1b57ff-0f6b-4d15-bff4-aa31ed6452cd	g.chrX:118979254C>T	ENST00000276201.2	-	4	445	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	UPF3B_ENST00000478840.1_5'Flank|UPF3B_ENST00000345865.2_Missense_Mutation_p.E126K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	126	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						GCGGGATATTCCTGACCTGTT	0.353																																																	0													87	79	82					X																	118979254		2202	4300	6502	SO:0001583	missense	0			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.376G>A	X.37:g.118979254C>T	ENSP00000276201:p.Glu126Lys		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.E126K	ENST00000276201.2	37	c.376	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787597	0.90367	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.63580	-0.05;-0.05	5.08	5.08	0.68730	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.80407	0.4617	M	0.80422	2.495	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.83275	0.99;0.996	D	0.83768	0.0218	10	0.87932	D	0	.	16.5031	0.84262	0.0:1.0:0.0:0.0	.	126;126	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	K	126	ENSP00000276201:E126K;ENSP00000245418:E126K	ENSP00000276201:E126K	E	-	1	0	UPF3B	118863282	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.413000	0.80104	2.098000	0.63641	0.506000	0.49869	GAA	UPF3B	-	pfam_Nonsense_mediated_decay_UPF3	ENSG00000125351		0.353	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	-	0	27	0	C			118979254	-1	tier1	-	no_errors	ENST00000276201	ensembl	human	known	74_37	missense	54.17	11	13	SNP	1.000	T	T	118979254	C	T	118979254	3	4	118	1	0	0	0	0	1	0	0	0	17055	864	30	3	1107	3	UPF3B	23	118979254	Missense_Mutation	SNP	C	TCGA-LN-A4A9-01A-11D-A28B-09	49015208	118979254	36291306	242	31438											
PANK4	55229	genome.wustl.edu	37	chr1	2441583	2441583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagggcggggcctgagttgCacgccaggatgacctgcagg	7	6	17	11	2	1	2	1	2	0	0	1	3	1	3	3	5	2	3	3	5	0	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr1:2441583C>A	ENST00000378466.3	-	17	1964	c.1952G>T	c.(1951-1953)tGc>tTc	p.C651F	PANK4_ENST00000435556.3_Missense_Mutation_p.C612F	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	651					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCCTGAGTTGCACGCCAGGAT	0.657																																																	0													58	49	52					1																	2441583		2192	4295	6487	SO:0001583	missense	0			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1952G>T	1.37:g.2441583C>A	ENSP00000367727:p.Cys651Phe		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.C651F	ENST00000378466.3	37	c.1952	CCDS42.1	1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490159	0.64074	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.06528	3.29;3.29	5.03	5.03	0.67393	Domain of unknown function DUF89 (2);	0.137932	0.64402	D	0.000003	T	0.11965	0.0291	L	0.50333	1.59	0.58432	D	0.999999	P;P	0.41748	0.761;0.593	P;B	0.44359	0.447;0.364	T	0.01162	-1.1432	10	0.87932	D	0	-36.8468	17.3398	0.87292	0.0:1.0:0.0:0.0	.	612;651	E9PHT6;Q9NVE7	.;PANK4_HUMAN	F	651;612	ENSP00000367727:C651F;ENSP00000421433:C612F	ENSP00000367727:C651F	C	-	2	0	PANK4	2431443	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.003000	0.76310	2.334000	0.79466	0.561000	0.74099	TGC	PANK4	-	pfam_DUF89,superfamily_DUF89,pirsf_PanK_long	ENSG00000157881		0.657	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	-	0	44	0	C			2441583	-1	tier1	-	no_errors	ENST00000378466	ensembl	human	known	74_37	missense	33.90	38	20	SNP	1.000	A	A	2441583	C	A	2441583	3	1	119	1	0	0	0	0	1	0	0	0	11458	710	25	3	381	3	PANK4	1	2441583	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09		2441583	246809038	1	31439											
TTLL7	79739	genome.wustl.edu	37	chr1	84394840	84394840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtttagtagcttcaacGcatttagcagcactcccctt	9	15	6	11	1	1	0	1	0	0	0	2	0	2	0	2	0	4	6	2	0	5	8			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr1:84394840G>A	ENST00000260505.8	-	10	1498	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	374	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TAGCTTCAACGCATTTAGCAG	0.333																																																	0													130	117	121					1																	84394840		2202	4300	6502	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1121C>T	1.37:g.84394840G>A	ENSP00000260505:p.Ala374Val		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.A374V	ENST00000260505.8	37	c.1121	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096688	0.56075	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.04275	3.66	4.96	4.96	0.65561	.	0.110120	0.64402	D	0.000008	T	0.02767	0.0083	L	0.28458	0.855	0.80722	D	1	D	0.54207	0.965	P	0.45660	0.489	T	0.62277	-0.6888	10	0.15499	T	0.54	.	18.613	0.91293	0.0:0.0:1.0:0.0	.	374	Q6ZT98	TTLL7_HUMAN	V	374;151;374	ENSP00000260505:A374V	ENSP00000260505:A374V	A	-	2	0	TTLL7	84167428	1.000000	0.71417	0.992000	0.48379	0.167000	0.22549	9.269000	0.95684	2.457000	0.83068	0.650000	0.86243	GCG	TTLL7	-	pfam_TTL/TTLL_fam	ENSG00000137941		0.333	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	-	0	84	0	G	NM_024686		84394840	-1	tier1	-	no_errors	ENST00000260505	ensembl	human	known	74_37	missense	28.71	72	29	SNP	1.000	A	A	84394840	G	A	84394840	3	1	119	1	0	0	0	0	1	0	0	0	16781	1087	38	1	1590	1	TTLL7	1	84394840	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	81953257	84394840	164855781	2	31440											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144882552	144882552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtgttggtgcttcccagggGaaccaaccagttctgtgttt	6	13	13	9	0	1	0	0	0	1	0	2	1	2	1	3	4	3	4	3	4	2	4			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr1:144882552G>A	ENST00000369354.3	-	24	3656	c.3467C>T	c.(3466-3468)tCc>tTc	p.S1156F	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1293F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1293F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1156F|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1156					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)		CTTCCCAGGGGAACCAACCAG	0.522			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													145	137	140					1																	144882552		2203	4296	6499	SO:0001583	missense	0			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.3467C>T	1.37:g.144882552G>A	ENSP00000358360:p.Ser1156Phe		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.S1156F	ENST00000369354.3	37	c.3467	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104426	0.56291	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01560	4.77;4.77;4.77;4.77	5.99	0.685	0.18009	.	.	.	.	.	T	0.00967	0.0032	L	0.51422	1.61	0.09310	N	0.999999	D	0.56521	0.976	P	0.51016	0.656	T	0.47724	-0.9095	9	0.15499	T	0.54	.	6.2115	0.20631	0.2181:0.2464:0.5356:0.0	.	1156	Q5VU43	MYOME_HUMAN	F	1156;1156;1293;1293	ENSP00000358360:S1156F;ENSP00000358363:S1156F;ENSP00000435654:S1293F;ENSP00000358366:S1293F	ENSP00000358360:S1156F	S	-	2	0	PDE4DIP	143593909	0.017000	0.18338	0.000000	0.03702	0.072000	0.16883	1.917000	0.39996	0.123000	0.18342	0.655000	0.94253	TCC	PDE4DIP	-	NULL	ENSG00000178104		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0	210	0	G	NM_022359		144882552	-1	tier1	-	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	9.93	271	30	SNP	0.001	A	A	144882552	G	A	144882552	3	1	119	1	0	0	0	0	1	0	0	0	11682	1174	41	3	3657	3	PDE4DIP	1	144882552	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	60487712	144882552	104368069	3	31441											
TAF1A	9015	genome.wustl.edu	37	chr1	222753163	222753163	+	Missense_Mutation	SNP	T	T	C	0	1	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	aaaagtattgaaactctccaTgttgcttttgggatgataaa	14	14	8	5	0	1	2	0	2	1	0	2	3	1	3	1	1	2	3	1	1	6	6			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr1:222753163T>C	ENST00000352967.4	-	4	531	c.343A>G	c.(343-345)Atg>Gtg	p.M115V	TAF1A_ENST00000543857.1_Missense_Mutation_p.M115V|TAF1A_ENST00000391882.1_Start_Codon_SNP_p.M1V|TAF1A_ENST00000366890.1_Start_Codon_SNP_p.M1V|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000350027.4_Missense_Mutation_p.M115V	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	115					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		AAACTCTCCATGTTGCTTTTG	0.333																																																	0													102	111	108					1																	222753163		2202	4299	6501	SO:0001583	missense	0			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.343A>G	1.37:g.222753163T>C	ENSP00000327072:p.Met115Val		B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	pirsf_RNA_pol_I_TAF1A/TAFI48	p.M115V	ENST00000352967.4	37	c.343	CCDS1531.1	1	.	.	.	.	.	.	.	.	.	.	T	0.170	-1.072206	0.01918	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000543857	T;T;T	0.38077	1.16;1.16;1.17	6.17	-2.76	0.05896	.	0.550460	0.20886	N	0.083906	T	0.06371	0.0164	N	0.00642	-1.3	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33059	-0.9883	10	0.02654	T	1	-9.7706	2.9109	0.05737	0.1118:0.4159:0.1102:0.3621	.	115;115	B4DS21;Q15573	.;TAF1A_HUMAN	V	1;115;115;1;115	ENSP00000339976:M115V;ENSP00000327072:M115V;ENSP00000437725:M115V	ENSP00000339976:M115V	M	-	1	0	TAF1A	220819786	0.000000	0.05858	0.014000	0.15608	0.885000	0.51271	-1.911000	0.01583	-0.285000	0.09089	-0.772000	0.03388	ATG	TAF1A	-	pirsf_RNA_pol_I_TAF1A/TAFI48	ENSG00000143498		0.333	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1A	HGNC	protein_coding	OTTHUMT00000091493.2	-	0	20	0	T	NM_005681		222753163	-1	tier1	-	no_errors	ENST00000350027	ensembl	human	known	74_37	missense	46.67	32	28	SNP	0.003	C	C	222753163	T	C	222753163	3	2	119	1	0	0	0	0	1	0	0	0	15566	1464	51	4	1041	4	TAF1A	1	222753163	Missense_Mutation	SNP	T	TCGA-LN-A4MQ-01A-11D-A28B-09	77870611	222753163	26497458	4	31442											
FAM179A	165186	genome.wustl.edu	37	chr2	29247111	29247111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccgaggagatcgcccGctgcttgctgcagaagatgg	8	6	17	10	3	0	3	0	0	0	3	1	6	0	4	2	4	3	4	2	4	1	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:29247111G>A	ENST00000379558.4	+	13	2075	c.1724G>A	c.(1723-1725)cGc>cAc	p.R575H	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.R520H	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	575										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						GAGATCGCCCGCTGCTTGCTG	0.597																																																	0													34	35	35					2																	29247111		2037	4177	6214	SO:0001583	missense	0			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.1724G>A	2.37:g.29247111G>A	ENSP00000368876:p.Arg575His		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.R575H	ENST00000379558.4	37	c.1724	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332314	0.81801	.	.	ENSG00000189350	ENST00000401723;ENST00000379558;ENST00000403861;ENST00000440012	T;T;T;T	0.67171	2.38;2.38;2.38;-0.25	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.64402	D	0.000006	T	0.80649	0.4663	M	0.66939	2.045	0.40314	D	0.978759	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81965	-0.0691	10	0.48119	T	0.1	.	17.7168	0.88340	0.0:0.0:1.0:0.0	.	520;575	F8W8E4;Q6ZUX3	.;F179A_HUMAN	H	10;575;520;70	ENSP00000384897:R10H;ENSP00000368876:R575H;ENSP00000384699:R520H;ENSP00000396739:R70H	ENSP00000368876:R575H	R	+	2	0	FAM179A	29100615	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	2.793000	0.47845	2.262000	0.75019	0.462000	0.41574	CGC	FAM179A	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000189350		0.597	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	-	0	53	0	G	NM_199280		29247111	1	tier1	-	no_errors	ENST00000379558	ensembl	human	known	74_37	missense	15.94	58	11	SNP	1.000	A	A	29247111	G	A	29247111	3	1	119	1	0	0	0	0	1	0	0	0	5524	1087	38	1	1770	1	FAM179A	2	29247111	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09		29247111	213952262	5	31443											
ALK	238	genome.wustl.edu	37	chr2	29416625	29416626	+	Missense_Mutation	DNP	GG	GG	AC																															cagaggaggtggtaggcagaGgtggtggggcagctgggctg																										TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:29416625_29416626GG>AC	ENST00000389048.3	-	29	5233_5234	c.4327_4328CC>GT	c.(4327-4329)CCt>GTt	p.P1443V	ALK_ENST00000431873.1_Missense_Mutation_p.P273V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1443					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)	GGTAGGCAGAGGTGGTGGGGCA	0.629			"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																																										SO:0001583	missense	0	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.4327_4328delinsAC	2.37:g.29416625_29416626delinsAC	ENSP00000373700:p.Pro1443Val		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P1443L|p.P1443A	ENST00000389048.3	37	c.4328|c.4327	CCDS33172.1	2																																																																																			ALK	-	NULL	ENSG00000171094		0.629	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	-	0	45|42	0	G	NM_004304		29416625|29416626	-1	tier1	-	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	7.94|8.06	58|57	5	SNP	0.257|0.161	A|C	AC	29416626	GG	AC	29416625	3	1	119	1	0	0	0	0	1	0	0	0	525	1000	35	3	538	3	ALK	2	29416625	Missense_Mutation	DNP	GG	TCGA-LN-A4MQ-01A-11D-A28B-09	169514	29416625	213782748	6	31444											
USP34	9736	genome.wustl.edu	37	chr2	61472421	61472421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcagcatcattaaaaagaTacctaaaatagagcatatag	19	9	5	8	0	2	2	2	0	0	2	2	2	2	2	2	0	3	2	2	0	9	6			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:61472421T>C	ENST00000398571.2	-	51	6627	c.6551A>G	c.(6550-6552)tAt>tGt	p.Y2184C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2184	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)			ATTAAAAAGATACCTAAAATA	0.289																																																	0													80	72	75					2																	61472421		1816	4073	5889	SO:0001583	missense	0			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.6551A>G	2.37:g.61472421T>C	ENSP00000381577:p.Tyr2184Cys		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.Y2184C	ENST00000398571.2	37	c.6551	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116519	0.77323	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.07327	3.2;3.2	5.34	5.34	0.76211	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	L	0.55481	1.735	0.80722	D	1	P	0.44578	0.838	P	0.59948	0.866	T	0.00166	-1.1965	10	0.87932	D	0	.	15.5961	0.76583	0.0:0.0:0.0:1.0	.	2184	Q70CQ2	UBP34_HUMAN	C	2032;2032;2184;462	ENSP00000381577:Y2184C;ENSP00000410559:Y462C	ENSP00000263989:Y2032C	Y	-	2	0	USP34	61325925	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.841000	0.86834	2.146000	0.66826	0.477000	0.44152	TAT	USP34	-	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	ENSG00000115464		0.289	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	-	0	35	0	T			61472421	-1	tier1	-	no_errors	ENST00000398571	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	C	C	61472421	T	C	61472421	3	2	119	1	0	0	0	0	1	0	0	0	17114	1406	49	4	4209	4	USP34	2	61472421	Missense_Mutation	SNP	T	TCGA-LN-A4MQ-01A-11D-A28B-09	32055796	61472421	181726952	7	31445											
SMYD1	150572	genome.wustl.edu	37	chr2	88405895	88405895	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggagccagtgtttgctGacaccaacatctacatgctg	11	9	10	11	0	1	1	0	1	1	0	1	2	1	2	2	1	6	4	2	1	2	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:88405895G>C	ENST00000419482.2	+	8	1118	c.1033G>C	c.(1033-1035)Gac>Cac	p.D345H	SMYD1_ENST00000444564.2_Missense_Mutation_p.D332H|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	345					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						AGTGTTTGCTGACACCAACAT	0.547																																																	0													174	130	145					2																	88405895		2203	4300	6503	SO:0001583	missense	0			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.1033G>C	2.37:g.88405895G>C	ENSP00000393453:p.Asp345His		A0AV30|A6NE13	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.D345H	ENST00000419482.2	37	c.1033	CCDS33240.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406679	0.83230	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.25414	1.8;1.8	5.03	5.03	0.67393	.	0.085189	0.85682	D	0.000000	T	0.35393	0.0930	M	0.74881	2.28	0.80722	D	1	D	0.58268	0.982	B	0.43052	0.406	T	0.44128	-0.9348	10	0.72032	D	0.01	-25.1214	17.7486	0.88428	0.0:0.0:1.0:0.0	.	345	Q8NB12	SMYD1_HUMAN	H	345;332;166	ENSP00000393453:D345H;ENSP00000407888:D332H	ENSP00000295833:D166H	D	+	1	0	SMYD1	88187010	1.000000	0.71417	0.974000	0.42286	0.949000	0.60115	9.098000	0.94202	2.493000	0.84123	0.530000	0.56133	GAC	SMYD1	-	NULL	ENSG00000115593		0.547	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	-	0	79	0	G	XM_097915		88405895	1	tier1	-	no_errors	ENST00000419482	ensembl	human	known	74_37	missense	17.89	78	17	SNP	1.000	C	C	88405895	G	C	88405895	3	2	119	1	0	0	0	0	1	0	0	0	14866	1290	45	5	1063	5	SMYD1	2	88405895	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	26933474	88405895	154793478	8	31446											
ANKRD36	375248	genome.wustl.edu	37	chr2	97830141	97830141	+	Missense_Mutation	SNP	T	T	C	0	1	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	caaacccattcagcatacggTgaaagacagagatcacattt	16	8	7	10	1	2	3	2	1	0	2	2	4	2	3	1	1	3	1	1	1	3	3			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:97830141T>C	ENST00000461153.2	+	20	1710	c.1466T>C	c.(1465-1467)gTg>gCg	p.V489A	ANKRD36_ENST00000420699.2_Missense_Mutation_p.V489A			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	489										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAGCATACGGTGAAAGACAGA	0.318																																																	0													122	81	94					2																	97830141		692	1590	2282	SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1466T>C	2.37:g.97830141T>C	ENSP00000419530:p.Val489Ala		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V489A	ENST00000461153.2	37	c.1466	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.311559	0.00237	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.19250	2.16;2.16	0.945	-0.302	0.12796	.	.	.	.	.	T	0.07188	0.0182	N	0.08118	0	0.09310	N	1	P	0.36222	0.544	B	0.23716	0.048	T	0.23190	-1.0195	9	0.56958	D	0.05	.	2.9142	0.05746	0.0:0.3173:0.0:0.6827	.	489	A6QL64	AN36A_HUMAN	A	489	ENSP00000419530:V489A;ENSP00000391950:V489A	ENSP00000391950:V489A	V	+	2	0	ANKRD36	97193868	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.373000	0.07494	-0.108000	0.12066	0.155000	0.16302	GTG	ANKRD36	-	NULL	ENSG00000135976		0.318	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0	148	0	T			97830141	1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	missense	6.53	186	13	SNP	0.000	C	C	97830141	T	C	97830141	3	2	119	1	0	0	0	0	1	0	0	0	665	1696	59	4	1544	4	ANKRD36	2	97830141	Missense_Mutation	SNP	T	TCGA-LN-A4MQ-01A-11D-A28B-09	9424246	97830141	145369232	9	31447											
TTN	7273	genome.wustl.edu	37	chr2	179588345	179588345	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgaatggaggggttcctCtaataacgcttgtgaaggtt	9	14	12	6	1	1	2	0	2	1	0	2	3	2	3	1	4	1	3	1	4	4	6			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:179588345C>G	ENST00000591111.1	-	72	20755	c.20531G>C	c.(20530-20532)aGa>aCa	p.R6844T	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R7161T|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5917T			Q8WZ42	TITIN_HUMAN	titin	12436	Ig-like 50.				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)			AGGGGTTCCTCTAATAACGCT	0.433																																																	0													55	51	53					2																	179588345		1851	4086	5937	SO:0001583	missense	0			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.20531G>C	2.37:g.179588345C>G	ENSP00000465570:p.Arg6844Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R5917T	ENST00000591111.1	37	c.17750		2	.	.	.	.	.	.	.	.	.	.	C	8.727	0.915646	0.17907	.	.	ENSG00000155657	ENST00000342992	T	0.65549	-0.16	6.16	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47097	0.1427	N	0.16233	0.39	0.80722	D	1	B	0.17667	0.023	B	0.18561	0.022	T	0.45338	-0.9268	9	0.87932	D	0	.	11.7477	0.51830	0.0:0.8656:0.0:0.1344	.	6844	Q8WZ42	TITIN_HUMAN	T	5917	ENSP00000343764:R5917T	ENSP00000343764:R5917T	R	-	2	0	TTN	179296590	0.349000	0.24870	0.998000	0.56505	0.994000	0.84299	0.351000	0.20096	1.623000	0.50342	0.650000	0.86243	AGA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	42	0	C	NM_133378		179588345	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.914	G	G	179588345	C	G	179588345	3	3	119	1	0	0	0	0	1	0	0	0	16784	913	32	5	83203	5	TTN	2	179588345	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	81758204	179588345	63611028	10	31448											
MAP2	4133	genome.wustl.edu	37	chr2	210559468	210559468	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgaaaaccatgtcattgtAaaaacggacagtcagctcga	16	8	9	8	2	2	1	2	1	0	0	3	4	2	2	1	1	3	2	1	1	5	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:210559468A>T	ENST00000360351.4	+	7	3080	c.2574A>T	c.(2572-2574)gtA>gtT	p.V858V	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.V854V	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	858					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATGTCATTGTAAAAACGGACA	0.483																																					Pancreas(27;423 979 28787 29963)												0													84	79	81					2																	210559468		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2574A>T	2.37:g.210559468A>T			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.V858	ENST00000360351.4	37	c.2574	CCDS2384.1	2																																																																																			MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.483	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0	52	0	A	NM_001039538		210559468	1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	silent	10.00	45	5	SNP	0.004	T	T	210559468	A	T	210559468	2	4	119	1	0	0	0	0	0	0	0	1	9273	349	13	5		5	MAP2	2	210559468	Silent	SNP	A	TCGA-LN-A4MQ-01A-11D-A28B-09	30971123	210559468	32639905	11	31449											
IRAK2	3656	genome.wustl.edu	37	chr3	10255058	10255058	+	Silent	SNP	G	G	A	0	0	1	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	agagggcacaggcacgggaaGccattcgtcttcaagaagct	12	6	13	10	2	2	2	1	0	1	2	3	3	2	3	1	3	2	3	1	3	3	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr3:10255058G>A	ENST00000256458.4	+	5	786	c.696G>A	c.(694-696)aaG>aaA	p.K232K		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGCACGGGAAGCCATTCGTCT	0.552																																																	0													65	63	63					3																	10255058		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.696G>A	3.37:g.10255058G>A			B4DQZ6|Q08AG6|Q5K546	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K232	ENST00000256458.4	37	c.696	CCDS33697.1	3																																																																																			IRAK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000134070		0.552	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	HGNC	protein_coding	OTTHUMT00000339623.1	-	0	33	0	G			10255058	1	tier1	-	no_errors	ENST00000256458	ensembl	human	known	74_37	silent	60.98	16	25	SNP	0.000	A	A	10255058	G	A	10255058	2	1	119	1	0	0	0	0	0	0	0	1	7850	962	34	3		3	IRAK2	3	10255058	Silent	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09		10255058	187767372	12	31450											
HRH1	3269	genome.wustl.edu	37	chr3	11300956	11300956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcggacttgatcgtgggtgCcgtcgtcatgcctatgaaca	7	10	14	10	4	1	2	1	2	0	0	3	3	1	3	2	3	3	0	2	3	2	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr3:11300956C>A	ENST00000397056.1	+	3	424	c.233C>A	c.(232-234)gCc>gAc	p.A78D	HRH1_ENST00000431010.2_Missense_Mutation_p.A78D|HRH1_ENST00000438284.2_Missense_Mutation_p.A78D	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	78					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ATCGTGGGTGCCGTCGTCATG	0.577																																																	0													167	133	145					3																	11300956		2203	4300	6503	SO:0001583	missense	0				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.233C>A	3.37:g.11300956C>A	ENSP00000380247:p.Ala78Asp		A8K047|Q6P9E5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt	p.A78D	ENST00000397056.1	37	c.233	CCDS2604.1	3	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410677	0.62399	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.38240	1.15;1.15;1.15	5.87	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.165528	0.52532	D	0.000074	T	0.61590	0.2359	M	0.86953	2.85	0.53688	D	0.999972	D	0.64830	0.994	D	0.65573	0.936	T	0.66999	-0.5781	10	0.87932	D	0	-4.3811	11.799	0.52116	0.0:0.81:0.1236:0.0663	.	78	P35367	HRH1_HUMAN	D	78	ENSP00000406705:A78D;ENSP00000397028:A78D;ENSP00000380247:A78D	ENSP00000380247:A78D	A	+	2	0	HRH1	11275956	0.972000	0.33761	0.022000	0.16811	0.689000	0.40095	2.674000	0.46867	0.811000	0.34303	0.655000	0.94253	GCC	HRH1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196639		0.577	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH1	HGNC	protein_coding	OTTHUMT00000251928.2	-	0	25	0	C			11300956	1	tier1	-	no_errors	ENST00000397056	ensembl	human	known	74_37	missense	38.71	19	12	SNP	0.890	A	A	11300956	C	A	11300956	3	1	119	1	0	0	0	0	1	0	0	0	7382	739	26	3	235	3	HRH1	3	11300956	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	1045898	11300956	186721474	13	31451											
MST1R	4486	genome.wustl.edu	37	chr3	49933677	49933677	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	tcagtggaactaggttggcaCtgggtggatggggtgggggt	6	10	21	4	0	1	0	1	0	0	0	1	2	1	2	0	9	1	2	0	9	2	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr3:49933677C>G	ENST00000296474.3	-	10	2627	c.2600G>C	c.(2599-2601)aGt>aCt	p.S867T	MST1R_ENST00000344206.4_Missense_Mutation_p.S867T	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	867					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)		TAGGTTGGCACTGGGTGGATG	0.582																																																	0													103	102	102					3																	49933677		2203	4300	6503	SO:0001583	missense	0			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.2600G>C	3.37:g.49933677C>G	ENSP00000296474:p.Ser867Thr		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.S867T	ENST00000296474.3	37	c.2600	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	4.409	0.075601	0.08485	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.74106	1.5;-0.81	4.59	-1.29	0.09288	Cell surface receptor IPT/TIG (1);	0.575717	0.21359	N	0.075836	T	0.58722	0.2142	L	0.57536	1.79	0.09310	N	1	P;B	0.41848	0.763;0.255	B;B	0.30855	0.121;0.057	T	0.53078	-0.8489	10	0.44086	T	0.13	-3.4149	6.8378	0.23945	0.0:0.4265:0.3953:0.1782	.	867;867	Q04912-5;Q04912	.;RON_HUMAN	T	867	ENSP00000296474:S867T;ENSP00000341325:S867T	ENSP00000296474:S867T	S	-	2	0	MST1R	49908681	0.003000	0.15002	0.029000	0.17559	0.712000	0.41017	-0.380000	0.07427	-0.106000	0.12110	0.313000	0.20887	AGT	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,smart_IPT	ENSG00000164078		0.582	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	-	0	63	0	C			49933677	-1	tier1	-	no_errors	ENST00000296474	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.008	G	G	49933677	C	G	49933677	3	3	119	1	0	0	0	0	1	0	0	0	9929	565	20	5	1646	5	MST1R	3	49933677	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	38632721	49933677	148088753	14	31452											
ARF4	378	genome.wustl.edu	37	chr3	57563091	57563092	+	Frame_Shift_Ins	INS	-	-	CGAT																															gaattctttcacgatcgttgINSctatctaccacaaaaataag																										TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr3:57563091_57563092insCGAT	ENST00000303436.6	-	4	548_549	c.281_282insATCG	c.(280-282)agcfs	p.-93fs	ARF4_ENST00000489843.1_5'UTR|ARF4_ENST00000496292.1_Frame_Shift_Ins_p.-66fs	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4						activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		CACGATCGTTGCTATCTACCAC	0.347																																																	0																																										SO:0001589	frameshift_variant	0			M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"ADP-ribosylation factors"	655	protein-coding gene	gene with protein product		601177	"ADP-ribosylation factor 2"	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.281_282insATCG	3.37:g.57563091_57563092insCGAT	ENSP00000306010:p.Asp93fs		B2R7J7|P21371	Frame_Shift_Ins	INS	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S94fs	ENST00000303436.6	37	c.282_281	CCDS2884.1	3																																																																																			ARF4	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	ENSG00000168374		0.347	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF4	HGNC	protein_coding	OTTHUMT00000351443.1		0	50	0	-	NM_001660		57563092	-1	tier1		no_errors	ENST00000303436	ensembl	human	known	74_37	frame_shift_ins	32.35	23	11	INS	1.000:1.000	CGAT	CGAT	57563092	-	CGAT	57563091	7	5	119	1	0	1	1	0	0	0	0	0	846	1310	46	0	272	0	ARF4	3	57563091	Frame_Shift_Ins	INS	-	TCGA-LN-A4MQ-01A-11D-A28B-09	7629414	57563091	140459339	15	31453											
UROC1	131669	genome.wustl.edu	37	chr3	126211314	126211314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagcgatggccacgcGgcccttctggtctgagtaca	7	7	13	14	3	2	1	0	1	2	0	2	2	2	1	3	4	2	1	3	4	1	2	rs201269614		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr3:126211314G>A	ENST00000290868.2	-	16	1608	c.1555C>T	c.(1555-1557)Cgc>Tgc	p.R519C	UROC1_ENST00000383579.3_Missense_Mutation_p.R579C	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	519					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)		ATGGCCACGCGGCCCTTCTGG	0.597																																																	0								G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	105	72	83		1735,1555	3.9	0.9	3		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UROC1	NM_001165974.1,NM_144639.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	579/737,519/677	126211314	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1555C>T	3.37:g.126211314G>A	ENSP00000290868:p.Arg519Cys		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase	p.R519C	ENST00000290868.2	37	c.1555	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207972	0.58343	0.0	1.16E-4	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.66099	-0.19;-0.19	4.77	3.86	0.44501	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.84433	0.5471	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85430	0.1148	10	0.87932	D	0	-11.5406	7.8497	0.29446	0.0:0.1788:0.6366:0.1846	.	579;519	E9PE13;Q96N76	.;HUTU_HUMAN	C	519;579	ENSP00000290868:R519C;ENSP00000373073:R579C	ENSP00000290868:R519C	R	-	1	0	UROC1	127694004	1.000000	0.71417	0.916000	0.36221	0.655000	0.38815	4.194000	0.58393	0.928000	0.37168	0.460000	0.39030	CGC	UROC1	-	pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase	ENSG00000159650		0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	-	0	46	0	G	NM_144639		126211314	-1	tier1	rs201269614	no_errors	ENST00000290868	ensembl	human	known	74_37	missense	18.29	67	15	SNP	1.000	A	A	126211314	G	A	126211314	3	1	119	1	0	0	0	0	1	0	0	0	17077	1116	39	1	495	1	UROC1	3	126211314	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	68648223	126211314	71811116	16	31454											
CNGA1	1259	genome.wustl.edu	37	chr4	47938770	47938770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttagagcttccatgaGgtcatcttttgagagacaga	11	12	10	8	0	3	5	2	2	1	3	4	6	4	5	1	1	1	2	1	1	1	4			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr4:47938770G>A	ENST00000514170.1	-	11	2060	c.1741C>T	c.(1741-1743)Ctc>Ttc	p.L581F	CNGA1_ENST00000420489.2_Missense_Mutation_p.L581F|CNGA1_ENST00000358519.4_Missense_Mutation_p.L581F|CNGA1_ENST00000544810.1_Missense_Mutation_p.L581F|CNGA1_ENST00000402813.3_Missense_Mutation_p.L650F			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	581					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						GCTTCCATGAGGTCATCTTTT	0.413																																																	0													131	128	129					4																	47938770		1985	4209	6194	SO:0001583	missense	0			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.1741C>T	4.37:g.47938770G>A	ENSP00000426862:p.Leu581Phe		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L650F	ENST00000514170.1	37	c.1948	CCDS43226.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027295	0.75390	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	4.77	4.77	0.60923	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.92361	0.7576	N	0.26092	0.79	0.80722	D	1	P;P	0.44578	0.838;0.838	P;P	0.47015	0.534;0.534	D	0.92782	0.6241	10	0.46703	T	0.11	.	18.1811	0.89779	0.0:0.0:1.0:0.0	.	581;581	Q4W5E3;P29973	.;CNGA1_HUMAN	F	650;581;581;581;581	ENSP00000384264:L650F;ENSP00000426862:L581F;ENSP00000443401:L581F;ENSP00000351320:L581F;ENSP00000389881:L581F	ENSP00000351320:L581F	L	-	1	0	CNGA1	47633527	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.288000	0.72679	2.352000	0.79861	0.491000	0.48974	CTC	CNGA1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000198515		0.413	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding	OTTHUMT00000372070.2	-	0	47	0	G	NM_000087		47938770	-1	tier1	-	no_errors	ENST00000402813	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A	A	47938770	G	A	47938770	3	1	119	1	0	0	0	0	1	0	0	0	3603	1000	35	3	335	3	CNGA1	4	47938770	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09		47938770	143215506	17	31455											
STOX2	56977	genome.wustl.edu	37	chr4	184931510	184931510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggtgcttcttctctaGggacgccggaagaccttgct	5	12	12	12	2	3	1	0	0	3	1	4	3	3	3	2	3	2	2	2	3	2	4			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr4:184931510G>T	ENST00000308497.4	+	3	2954	c.1519G>T	c.(1519-1521)Ggg>Tgg	p.G507W	STOX2_ENST00000438269.1_Missense_Mutation_p.G507W	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	507					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)		TTCTTCTCTAGGGACGCCGGA	0.547																																																	0													37	43	41					4																	184931510		1948	4158	6106	SO:0001583	missense	0			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.1519G>T	4.37:g.184931510G>T	ENSP00000311257:p.Gly507Trp		A6H8U4|Q9NPS8	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.G507W	ENST00000308497.4	37	c.1519	CCDS47167.1	4	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410180	0.62399	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.81078	-0.44;-1.45	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.85995	0.5827	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86610	0.1872	10	0.87932	D	0	-30.1444	19.9142	0.97043	0.0:0.0:1.0:0.0	.	507;507	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	W	507	ENSP00000311257:G507W;ENSP00000390127:G507W	ENSP00000311257:G507W	G	+	1	0	STOX2	185168504	1.000000	0.71417	0.978000	0.43139	0.585000	0.36419	9.263000	0.95617	2.941000	0.99782	0.655000	0.94253	GGG	STOX2	-	NULL	ENSG00000173320		0.547	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	-	0	38	0	G	NM_020225		184931510	1	tier1	-	no_errors	ENST00000308497	ensembl	human	known	74_37	missense	43.33	17	13	SNP	1.000	T	T	184931510	G	T	184931510	3	4	119	1	0	0	0	0	1	0	0	0	15367	1000	35	3	1529	3	STOX2	4	184931510	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	136992740	184931510	6222766	18	31456											
STOX2	56977	genome.wustl.edu	37	chr4	184932024	184932024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggctgaagggatcgccaacgGacgcctcgtccagcaccatg	9	5	13	14	4	0	1	0	1	0	0	3	3	1	3	4	3	2	2	4	3	2	0			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr4:184932024G>C	ENST00000308497.4	+	3	3468	c.2033G>C	c.(2032-2034)gGa>gCa	p.G678A	STOX2_ENST00000438269.1_Missense_Mutation_p.G678A	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	678					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)		ATCGCCAACGGACGCCTCGTC	0.602																																																	0													20	24	23					4																	184932024		1974	4130	6104	SO:0001583	missense	0			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.2033G>C	4.37:g.184932024G>C	ENSP00000311257:p.Gly678Ala		A6H8U4|Q9NPS8	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.G678A	ENST00000308497.4	37	c.2033	CCDS47167.1	4	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111174	0.37242	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.78481	-0.19;-1.18	5.06	5.06	0.68205	.	0.058466	0.64402	D	0.000002	T	0.77205	0.4096	N	0.19112	0.55	0.54753	D	0.999985	D;B	0.58268	0.982;0.227	P;B	0.55615	0.78;0.075	T	0.79274	-0.1871	10	0.49607	T	0.09	-19.6352	18.6259	0.91338	0.0:0.0:1.0:0.0	.	678;678	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	A	678	ENSP00000311257:G678A;ENSP00000390127:G678A	ENSP00000311257:G678A	G	+	2	0	STOX2	185169018	1.000000	0.71417	0.900000	0.35374	0.404000	0.30871	6.685000	0.74543	2.643000	0.89663	0.650000	0.86243	GGA	STOX2	-	NULL	ENSG00000173320		0.602	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	-	0	33	0	G	NM_020225		184932024	1	tier1	-	no_errors	ENST00000308497	ensembl	human	known	74_37	missense	53.12	15	17	SNP	1.000	C	C	184932024	G	C	184932024	3	2	119	1	0	0	0	0	1	0	0	0	15367	1174	41	5	2043	5	STOX2	4	184932024	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	514	184932024	6222252	19	31457											
SLC25A4	291	genome.wustl.edu	37	chr4	186066978	186066978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgattgcccagagtgtgacgGcagtcgcagggctggtgtcc	6	9	16	10	2	0	3	0	2	0	1	2	3	1	3	2	3	1	3	2	3	0	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr4:186066978G>T	ENST00000281456.6	+	3	796	c.664G>T	c.(664-666)Gca>Tca	p.A222S		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	222					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	GAGTGTGACGGCAGTCGCAGG	0.547																																																	0													107	84	92					4																	186066978		2203	4300	6503	SO:0001583	missense	0			BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"Solute carriers"	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.664G>T	4.37:g.186066978G>T	ENSP00000281456:p.Ala222Ser		D3DP59	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.A222S	ENST00000281456.6	37	c.664	CCDS34114.1	4	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169165	0.57584	.	.	ENSG00000151729	ENST00000281456	T	0.81163	-1.46	5.54	5.54	0.83059	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.79776	0.4504	L	0.54323	1.7	0.80722	D	1	B	0.06786	0.001	B	0.19148	0.024	T	0.74535	-0.3633	10	0.59425	D	0.04	0.3013	19.6787	0.95950	0.0:0.0:1.0:0.0	.	222	P12235	ADT1_HUMAN	S	222	ENSP00000281456:A222S	ENSP00000281456:A222S	A	+	1	0	SLC25A4	186303972	1.000000	0.71417	0.226000	0.23910	0.445000	0.32107	9.640000	0.98453	2.884000	0.98904	0.655000	0.94253	GCA	SLC25A4	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	ENSG00000151729		0.547	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A4	HGNC	protein_coding	OTTHUMT00000259170.3	-	0	50	0	G	NM_001151		186066978	1	tier1	-	no_errors	ENST00000281456	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	186066978	G	T	186066978	3	4	119	1	0	0	0	0	1	0	0	0	14549	1203	42	3	674	3	SLC25A4	4	186066978	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	1134954	186066978	5087298	20	31458											
NIPBL	25836	genome.wustl.edu	37	chr5	37064653	37064653	+	Missense_Mutation	SNP	T	T	A	0	1	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	tgagaaggtcaaaacgaaatTcagactctacggagttggca	15	8	11	7	2	3	2	2	1	1	2	3	5	3	3	0	3	2	2	0	3	5	3			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:37064653T>A	ENST00000282516.8	+	47	8573	c.8074T>A	c.(8074-8076)Tca>Aca	p.S2692T		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2692					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)			AAAACGAAATTCAGACTCTAC	0.383																																																	0													94	93	93					5																	37064653		2203	4300	6503	SO:0001583	missense	0			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.8074T>A	5.37:g.37064653T>A	ENSP00000282516:p.Ser2692Thr		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S2692T	ENST00000282516.8	37	c.8074	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	T	10.43	1.348253	0.24426	.	.	ENSG00000164190	ENST00000282516	D	0.93307	-3.2	5.59	5.59	0.84812	.	0.368244	0.25025	N	0.033727	D	0.87426	0.6174	N	0.19112	0.55	0.80722	D	1	B	0.30326	0.276	B	0.24541	0.054	D	0.85496	0.1188	10	0.37606	T	0.19	-8.5968	15.7607	0.78076	0.0:0.0:0.0:1.0	.	2692	Q6KC79	NIPBL_HUMAN	T	2692	ENSP00000282516:S2692T	ENSP00000282516:S2692T	S	+	1	0	NIPBL	37100410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.485000	0.66850	2.128000	0.65567	0.460000	0.39030	TCA	NIPBL	-	NULL	ENSG00000164190		0.383	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0	31	0	T	NM_015384		37064653	1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	20.29	55	14	SNP	1.000	A	A	37064653	T	A	37064653	3	1	119	1	0	0	0	0	1	0	0	0	10467	1783	62	5	8301	5	NIPBL	5	37064653	Missense_Mutation	SNP	T	TCGA-LN-A4MQ-01A-11D-A28B-09		37064653	143850607	21	31459											
HCN1	348980	genome.wustl.edu	37	chr5	45645478	45645478	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagtcaaccacaaaccagcTttttaaataattcatcttga	16	12	4	9	0	3	1	2	1	1	0	3	2	3	1	2	0	3	1	2	0	6	6			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:45645478T>G	ENST00000303230.4	-	2	715	c.658A>C	c.(658-660)Agc>Cgc	p.S220R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	220					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						ACAAACCAGCTTTTTAAATAA	0.393																																																	0													87	81	83					5																	45645478		2203	4299	6502	SO:0001583	missense	0			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.658A>C	5.37:g.45645478T>G	ENSP00000307342:p.Ser220Arg			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.S220R	ENST00000303230.4	37	c.658	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246099	0.80024	.	.	ENSG00000164588	ENST00000303230	D	0.98717	-5.09	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99061	0.9678	M	0.84846	2.72	0.58432	D	0.999999	D	0.62365	0.991	D	0.65140	0.932	D	0.99564	1.0969	10	0.87932	D	0	.	15.3658	0.74519	0.0:0.0:0.0:1.0	.	220	O60741	HCN1_HUMAN	R	220	ENSP00000307342:S220R	ENSP00000307342:S220R	S	-	1	0	HCN1	45681235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.038000	0.60285	0.454000	0.30748	AGC	HCN1	-	pfam_Ion_trans_dom	ENSG00000164588		0.393	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	55	0	T	NM_021072		45645478	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	6.74	83	6	SNP	1.000	G	G	45645478	T	G	45645478	3	3	119	1	0	0	0	0	1	0	0	0	7023	1609	56	4	2042	4	HCN1	5	45645478	Missense_Mutation	SNP	T	TCGA-LN-A4MQ-01A-11D-A28B-09	8580825	45645478	135269782	22	31460											
DDX4	54514	genome.wustl.edu	37	chr5	55110775	55110775	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctcttggagattttcgcTttggaaagtgcccagttctt	8	15	10	8	1	2	1	0	0	2	1	3	3	2	2	1	2	2	3	1	2	2	6			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:55110775T>A	ENST00000505374.1	+	20	1854	c.1762T>A	c.(1762-1764)Ttt>Att	p.F588I	DDX4_ENST00000511853.1_Missense_Mutation_p.F439I|DDX4_ENST00000514278.2_Missense_Mutation_p.F568I|DDX4_ENST00000354991.5_Missense_Mutation_p.F554I|DDX4_ENST00000353507.5_Missense_Mutation_p.F554I	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	588	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)				AGATTTTCGCTTTGGAAAGTG	0.403																																																	0													115	119	117					5																	55110775		2203	4300	6503	SO:0001583	missense	0			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.1762T>A	5.37:g.55110775T>A	ENSP00000424838:p.Phe588Ile		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.F588I	ENST00000505374.1	37	c.1762	CCDS3969.1	5	.	.	.	.	.	.	.	.	.	.	T	4.479	0.088743	0.08583	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	5.83	1.95	0.26073	Helicase, C-terminal (3);	0.575982	0.18872	N	0.128808	D	0.84220	0.5424	N	0.17723	0.515	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.0;0.004;0.0;0.001	T	0.71590	-0.4547	10	0.41790	T	0.15	-9.4205	10.9521	0.47336	0.486:0.0:0.0:0.514	.	568;439;554;588	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	I	554;568;588;554;439	ENSP00000334167:F554I;ENSP00000425359:F568I;ENSP00000424838:F588I;ENSP00000347087:F554I;ENSP00000423123:F439I	ENSP00000334167:F554I	F	+	1	0	DDX4	55146532	0.930000	0.31532	0.995000	0.50966	0.035000	0.12851	0.982000	0.29539	0.088000	0.17205	-0.301000	0.09380	TTT	DDX4	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000152670		0.403	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX4	HGNC	protein_coding	OTTHUMT00000214147.2	-	0	63	0	T	NM_024415		55110775	1	tier1	-	no_errors	ENST00000505374	ensembl	human	known	74_37	missense	43.04	45	34	SNP	0.632	A	A	55110775	T	A	55110775	3	1	119	1	0	0	0	0	1	0	0	0	4369	1609	56	5	1877	5	DDX4	5	55110775	Missense_Mutation	SNP	T	TCGA-LN-A4MQ-01A-11D-A28B-09	9465297	55110775	125804485	23	31461											
C5orf32	84418	genome.wustl.edu	37	chr5	139622995	139622995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctgggacatgctcacctGaccagaccagcccagccgtc	8	7	9	17	1	2	2	1	1	1	1	4	3	2	3	5	1	3	1	5	1	0	0	rs370523896		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:139622995G>A	ENST00000261811.4	+	3	957	c.293G>A	c.(292-294)tGa>tAa	p.*98*	CYSTM1_ENST00000509789.2_3'UTR|PFDN1_ENST00000514611.1_5'Flank	NM_032412.3	NP_115788.1	Q9H1C7	CYTM1_HUMAN	cysteine-rich transmembrane module containing 1	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ATGCTCACCTGACCAGACCAG	0.572																																																	0								G		0,4406		0,0,2203	64	58	60		293	5.2	1	5		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C5orf32	NM_032412.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		98/98	139622995	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ245877	CCDS4221.1	5q31.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000120306	ENSG00000120306			30239	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 32"	C5orf32		19933165	Standard	NM_032412		Approved	ORF1-FL49	uc003lfd.3	Q9H1C7	OTTHUMG00000129243	ENST00000261811.4:c.293G>A	5.37:g.139622995G>A			Q8TBA5	Silent	SNP	NULL	p.*98	ENST00000261811.4	37	c.293	CCDS4221.1	5																																																																																			CYSTM1	-	NULL	ENSG00000120306		0.572	CYSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSTM1	HGNC	protein_coding	OTTHUMT00000251342.2	-	0	33	0	G	NM_032412		139622995	1	tier1	-	no_errors	ENST00000261811	ensembl	human	known	74_37	silent	45.00	22	18	SNP	1.000	A	A	139622995	G	A	139622995	2	1	119	1	0	0	0	0	0	0	0	1	2298	1285	45	3		3	C5orf32	5	139622995	Silent	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	84512220	139622995	41292265	24	31462											
PCDHB14	56122	genome.wustl.edu	37	chr5	140604553	140604553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaactactcgctgctgccGccccaggaccggcacctgcc	6	6	10	19	3	1	0	1	0	0	0	2	1	1	1	6	2	5	3	6	2	2	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:140604553G>A	ENST00000239449.4	+	1	1476	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P	PCDHB14_ENST00000515856.2_Silent_p.P339P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	492	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCTGCCGCCCCAGGACC	0.657																																					Ovarian(141;50 1831 27899 33809 37648)												0													92	101	98					5																	140604553		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1476G>A	5.37:g.140604553G>A			B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P492	ENST00000239449.4	37	c.1476	CCDS4256.1	5																																																																																			PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120327		0.657	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0	211	0	G	NM_018934		140604553	1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	silent	6.82	164	12	SNP	0.028	A	A	140604553	G	A	140604553	2	1	119	1	0	0	0	0	0	0	0	1	11578	1074	38	1		1	PCDHB14	5	140604553	Silent	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	981558	140604553	40310707	25	31463											
PCDHGA5	56110	genome.wustl.edu	37	chr5	140745554	140745554	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgctgagcctgtttgtgCtggaccagaacgacaatacg	9	10	12	10	3	0	2	0	1	0	1	1	4	0	3	2	1	4	3	2	1	3	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:140745554C>T	ENST00000518069.1	+	1	1657	c.1657C>T	c.(1657-1659)Ctg>Ttg	p.L553L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	553	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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTTTGTGCTGGACCAGAA	0.602																																																	0													184	199	194					5																	140745554		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1657C>T	5.37:g.140745554C>T			Q2M3F5|Q9Y5D2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L553	ENST00000518069.1	37	c.1657	CCDS54925.1	5																																																																																			PCDHGA5	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253485		0.602	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	-	0	83	0	C	NM_018918		140745554	1	tier1	-	no_errors	ENST00000518069	ensembl	human	known	74_37	silent	7.14	78	6	SNP	0.010	T	T	140745554	C	T	140745554	2	4	119	1	0	0	0	0	0	0	0	1	11596	796	28	3		3	PCDHGA5	5	140745554	Silent	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	141001	140745554	40169706	26	31464											
SLIT3	6586	genome.wustl.edu	37	chr5	168310287	168310287	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaggttcttcacatcggtGatgccgcggaacgccttcct	7	11	10	13	4	2	1	1	1	1	0	4	2	3	2	3	3	3	1	3	3	2	4			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:168310287G>A	ENST00000519560.1	-	5	887	c.468C>T	c.(466-468)atC>atT	p.I156I	SLIT3_ENST00000332966.8_Silent_p.I156I|SLIT3_ENST00000404867.3_Silent_p.I156I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	156					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)			TCACATCGGTGATGCCGCGGA	0.502																																					Ovarian(29;311 847 10864 17279 24903)												0													140	113	122					5																	168310287		2203	4300	6503	SO:0001819	synonymous_variant	0			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.468C>T	5.37:g.168310287G>A			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.I156	ENST00000519560.1	37	c.468	CCDS4369.1	5																																																																																			SLIT3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000184347		0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0	44	0	G	NM_003062		168310287	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.996	A	A	168310287	G	A	168310287	2	1	119	1	0	0	0	0	0	0	0	1	14786	1280	45	3		3	SLIT3	5	168310287	Silent	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	27564733	168310287	12604973	27	31465											
CDKAL1	54901	genome.wustl.edu	37	chr6	21065322	21065322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagatattatctgtggttttCctggagaaacagatcaggat	12	13	10	6	0	2	3	1	0	1	3	3	5	3	4	1	3	1	1	1	3	3	4			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr6:21065322C>T	ENST00000378610.1	+	10	1109	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	CDKAL1_ENST00000274695.4_Missense_Mutation_p.P367S|CDKAL1_ENST00000378624.4_Missense_Mutation_p.P297S			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	367					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)			CTGTGGTTTTCCTGGAGAAAC	0.328																																																	0													76	77	77					6																	21065322		2203	4300	6503	SO:0001583	missense	0			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.1099C>T	6.37:g.21065322C>T	ENSP00000367873:p.Pro367Ser		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	p.P367S	ENST00000378610.1	37	c.1099	CCDS4546.1	6	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927558	0.92389	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.51325	0.71;0.71;0.71	5.76	5.76	0.90799	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.78240	0.4252	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84117	0.0404	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	297;367	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	S	367;297;367	ENSP00000274695:P367S;ENSP00000367889:P297S;ENSP00000367873:P367S	ENSP00000274695:P367S	P	+	1	0	CDKAL1	21173301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.882000	0.98803	0.655000	0.94253	CCT	CDKAL1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	ENSG00000145996		0.328	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKAL1	HGNC	protein_coding	OTTHUMT00000039986.1	-	0	36	0	C	NM_017774		21065322	1	tier1	-	no_errors	ENST00000274695	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	T	T	21065322	C	T	21065322	3	4	119	1	0	0	0	0	1	0	0	0	3159	855	30	3	1137	3	CDKAL1	6	21065322	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09		21065322	150049745	28	31466											
MDC1	9656	genome.wustl.edu	37	chr6	30680542	30680542	+	Missense_Mutation	SNP	T	T	C	0	1	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	aaccatggaagcttggctttTctccagagggacagcctgtg	9	10	12	10	0	1	1	0	0	1	1	2	3	1	3	3	3	3	2	3	3	2	3			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr6:30680542T>C	ENST00000376406.3	-	5	1824	c.1177A>G	c.(1177-1179)Aaa>Gaa	p.K393E	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.K393E	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	393	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GCTTGGCTTTTCTCCAGAGGG	0.557								Other conserved DNA damage response genes																																									0													79	84	82					6																	30680542		1510	2709	4219	SO:0001583	missense	0			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.1177A>G	6.37:g.30680542T>C	ENSP00000365588:p.Lys393Glu		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.K393E	ENST00000376406.3	37	c.1177	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554333	0.27739	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02812	4.21;4.15	4.85	0.934	0.19477	.	0.418995	0.17716	N	0.164424	T	0.00724	0.0024	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.31817	0.187;0.187;0.231;0.341	B;B;B;B	0.30495	0.116;0.116;0.054;0.085	T	0.48433	-0.9036	10	0.48119	T	0.1	-0.8353	4.492	0.11819	0.0:0.1838:0.167:0.6492	.	393;265;393;393	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	E	393;393;393;265	ENSP00000365588:K393E;ENSP00000365587:K393E	ENSP00000365587:K393E	K	-	1	0	MDC1	30788521	0.004000	0.15560	0.005000	0.12908	0.081000	0.17604	1.505000	0.35736	0.066000	0.16515	0.459000	0.35465	AAA	MDC1	-	NULL	ENSG00000137337		0.557	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	-	0	52	0	T	NM_014641		30680542	-1	tier1	-	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	8.97	71	7	SNP	0.012	C	C	30680542	T	C	30680542	3	2	119	1	0	0	0	0	1	0	0	0	9441	1792	62	4	5136	4	MDC1	6	30680542	Missense_Mutation	SNP	T	TCGA-LN-A4MQ-01A-11D-A28B-09	9615220	30680542	140434525	29	31467											
CDC5L	988	genome.wustl.edu	37	chr6	44394257	44394257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccttaaatgtagaaccGcctttaacagatttacagaa	16	10	6	9	1	0	4	0	0	0	4	0	4	0	4	3	0	3	1	3	0	7	6	rs375237261		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr6:44394257G>A	ENST00000371477.3	+	13	1988	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	563	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.|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)			ATGTAGAACCGCCTTTAACAG	0.284																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	51	52	51		1689	-2.5	1	6		51	0,8596		0,0,4298	no	coding-synonymous	CDC5L	NM_001253.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		563/803	44394257	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	0			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.1689G>A	6.37:g.44394257G>A			Q76N46|Q99974	Silent	SNP	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P563	ENST00000371477.3	37	c.1689	CCDS4912.1	6																																																																																			CDC5L	-	pfam_DUF3351	ENSG00000096401		0.284	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	-	0	23	0	G			44394257	1	tier1	-	no_errors	ENST00000371477	ensembl	human	known	74_37	silent	20.97	49	13	SNP	0.998	A	A	44394257	G	A	44394257	2	1	119	1	0	0	0	0	0	0	0	1	3089	1074	38	1		1	CDC5L	6	44394257	Silent	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	13713715	44394257	126720810	30	31468											
SUMO4	23118	genome.wustl.edu	37	chr6	149721559	149721559	+	Intron	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcccacagaagaagtcaAgactgagaacaacaatcata	21	4	7	9	0	2	4	2	1	0	4	2	5	2	4	1	0	3	0	1	0	8	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr6:149721559A>T	ENST00000367456.1	+	7	2516				TAB2_ENST00000286332.5_Intron|SUMO4_ENST00000326669.4_Missense_Mutation_p.K11M|TAB2_ENST00000538427.1_Intron|TAB2_ENST00000536230.1_Intron			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2						activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GAAGAAGTCAAGACTGAGAAC	0.478																																																	0													58	55	56					6																	149721559		2203	4300	6503	SO:0001627	intron_variant	0			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1939+1239A>T	6.37:g.149721559A>T			B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.K11M	ENST00000367456.1	37	c.32	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	A	14.50	2.553958	0.45487	.	.	ENSG00000177688	ENST00000326669	T	0.22945	1.93	0.235	0.235	0.15431	.	0.000000	0.64402	U	0.000020	T	0.11793	0.0287	.	.	.	0.37475	D	0.915756	P	0.38110	0.618	B	0.42422	0.387	T	0.04796	-1.0926	9	0.72032	D	0.01	.	4.8392	0.13481	0.9998:0.0:2.0E-4:0.0	.	11	Q6EEV6	SUMO4_HUMAN	M	11	ENSP00000318635:K11M	ENSP00000318635:K11M	K	+	2	0	SUMO4	149763252	1.000000	0.71417	0.059000	0.19551	0.059000	0.15707	5.875000	0.69660	0.263000	0.21812	0.260000	0.18958	AAG	SUMO4	-	NULL	ENSG00000177688		0.478	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMO4	HGNC	protein_coding	OTTHUMT00000042633.3	-	0	72	0	A			149721559	1	tier1	-	no_errors	ENST00000326669	ensembl	human	known	74_37	missense	26.32	70	25	SNP	1.000	T	T	149721559	A	T	149721559	1	4	119	0	1	0	0	0	0	0	0	0	15437	72	3	5		5	SUMO4	6	149721559	Intron	SNP	A	TCGA-LN-A4MQ-01A-11D-A28B-09	105327302	149721559	21393508	31	31469											
TTLL2	83887	genome.wustl.edu	37	chr6	167754288	167754288	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgcccatttgaccaacagCagcatcaataaatccggggc	13	8	8	12	1	1	1	1	1	0	0	2	1	2	1	3	2	4	2	3	2	5	3			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr6:167754288C>T	ENST00000239587.5	+	3	988	c.900C>T	c.(898-900)agC>agT	p.S300S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	300	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)		TGACCAACAGCAGCATCAATA	0.413																																																	0													137	145	142					6																	167754288		2203	4300	6503	SO:0001819	synonymous_variant	0			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.900C>T	6.37:g.167754288C>T			B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	pfam_TTL/TTLL_fam	p.S300	ENST00000239587.5	37	c.900	CCDS5301.1	6																																																																																			TTLL2	-	pfam_TTL/TTLL_fam	ENSG00000120440		0.413	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	HGNC	protein_coding	OTTHUMT00000043127.3	-	0	55	0	C	NM_031949		167754288	1	tier1	-	no_errors	ENST00000239587	ensembl	human	known	74_37	silent	6.58	71	5	SNP	1.000	T	T	167754288	C	T	167754288	2	4	119	1	0	0	0	0	0	0	0	1	16776	709	25	3		3	TTLL2	6	167754288	Silent	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	18032729	167754288	3360779	32	31470											
RNF216	54476	genome.wustl.edu	37	chr7	5760759	5760759	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggacctacaatgtcgtcGcttattttcaagaaagaaca	15	11	7	8	2	1	2	1	0	0	2	3	3	1	3	1	1	2	1	1	1	7	5			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:5760759G>A	ENST00000425013.2	-	9	1602	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*	RNF216_ENST00000389902.3_Nonsense_Mutation_p.R517*	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	460					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)		CAATGTCGTCGCTTATTTTCA	0.428																																																	0													151	143	146					7																	5760759		2203	4300	6503	SO:0001587	stop_gained	0			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.1378C>T	7.37:g.5760759G>A	ENSP00000404602:p.Arg460*		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Nonsense_Mutation	SNP	smart_Znf_C6HC	p.R517*	ENST00000425013.2	37	c.1549	CCDS34595.1	7	.	.	.	.	.	.	.	.	.	.	G	41	9.162181	0.99085	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	.	.	.	5.6	5.6	0.85130	.	0.136777	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5891	12.264	0.54668	0.0:0.0:0.732:0.2679	.	.	.	.	X	460;517;272	.	ENSP00000374552:R517X	R	-	1	2	RNF216	5727285	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.306000	0.59117	2.649000	0.89929	0.484000	0.47621	CGA	RNF216	-	NULL	ENSG00000011275		0.428	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF216	HGNC	protein_coding	OTTHUMT00000340374.1	-	0	51	0	G	NM_207111		5760759	-1	tier1	-	no_errors	ENST00000389902	ensembl	human	known	74_37	nonsense	30.99	49	22	SNP	1.000	A	A	5760759	G	A	5760759	4	1	119	1	0	0	0	0	0	1	0	0	13525	1095	38	1	1258	1	RNF216	7	5760759	Nonsense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09		5760759	153377904	33	31471											
VPS41	27072	genome.wustl.edu	37	chr7	38794506	38794506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacactcactgaaattttatCttcattgtccaaaagcatgt	13	14	5	9	0	3	1	2	1	1	0	4	2	4	1	1	0	1	1	1	0	4	4			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:38794506C>G	ENST00000310301.4	-	20	1780	c.1726G>C	c.(1726-1728)Gat>Cat	p.D576H	VPS41_ENST00000395969.2_Missense_Mutation_p.D551H	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	576					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GAAATTTTATCTTCATTGTCC	0.338																																																	0													44	42	43					7																	38794506		2203	4300	6503	SO:0001583	missense	0			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1726G>C	7.37:g.38794506C>G	ENSP00000309457:p.Asp576His		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.D576H	ENST00000310301.4	37	c.1726	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.095575	0.94197	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.21191	2.02;2.02	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	L	0.43646	1.37	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	0.02581	-1.1138	10	0.35671	T	0.21	-27.501	19.6476	0.95789	0.0:1.0:0.0:0.0	.	576;551;576	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	H	576;551	ENSP00000309457:D576H;ENSP00000379297:D551H	ENSP00000309457:D576H	D	-	1	0	VPS41	38761031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.800000	0.85949	2.653000	0.90120	0.655000	0.94253	GAT	VPS41	-	pfam_Clathrin_H-chain/VPS_repeat,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41	ENSG00000006715		0.338	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	HGNC	protein_coding	OTTHUMT00000226986.3	-	0	23	0	C			38794506	-1	tier1	-	no_errors	ENST00000310301	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	G	G	38794506	C	G	38794506	3	3	119	1	0	0	0	0	1	0	0	0	17259	913	32	5	878	5	VPS41	7	38794506	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	33033747	38794506	120344157	34	31472											
TRIM73	375593	genome.wustl.edu	37	chr7	75028599	75028599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcacgcccgtctccaccGtctgcagccgcatgaaggtg	6	7	12	16	5	3	1	1	1	2	0	4	1	3	1	4	2	2	2	4	2	1	0	rs199603365		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:75028599G>A	ENST00000437796.1	+	1	401	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TRIM73_ENST00000450434.1_5'UTR|TRIM73_ENST00000323819.3_Missense_Mutation_p.V128I|TRIM73_ENST00000447409.2_Missense_Mutation_p.V128I|TRIM73_ENST00000430211.1_Missense_Mutation_p.V128I			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	128						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CGTCTCCACCGTCTGCAGCCG	0.672																																																	0													1	2	2					7																	75028599		319	1397	1716	SO:0001583	missense	0			AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18162	protein-coding gene	gene with protein product		612549	"tripartite motif-containing 50B", "tripartite motif-containing 73"	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.382G>A	7.37:g.75028599G>A	ENSP00000417040:p.Val128Ile		Q8N0S3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.V128I	ENST00000437796.1	37	c.382	CCDS34665.1	7	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960623	0.53400	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	2.31	2.31	0.28768	.	0.119478	0.36519	N	0.002554	T	0.32912	0.0845	N	0.24115	0.695	0.25573	N	0.986874	P;P	0.50156	0.932;0.932	B;B	0.36845	0.234;0.234	T	0.32295	-0.9912	10	0.46703	T	0.11	.	12.185	0.54234	0.0:0.0:1.0:0.0	.	128;128	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	I	128	ENSP00000318615:V128I;ENSP00000410121:V128I;ENSP00000407135:V128I;ENSP00000417040:V128I	ENSP00000318615:V128I	V	+	1	0	TRIM73	74866535	0.378000	0.25114	1.000000	0.80357	0.868000	0.49771	2.680000	0.46918	1.612000	0.50221	0.400000	0.26472	GTC	TRIM73	-	NULL	ENSG00000178809		0.672	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM73	HGNC	protein_coding	OTTHUMT00000342950.1	-	0	10	0	G			75028599	1	tier1	rs199603365	no_errors	ENST00000323819	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	A	A	75028599	G	A	75028599	3	1	119	1	0	0	0	0	1	0	0	0	16594	1145	40	1	384	1	TRIM73	7	75028599	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	36234093	75028599	84110064	35	31473											
GRM3	2913	genome.wustl.edu	37	chr7	86468866	86468866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaagaatggcgctcagaGgccaaaattcatcagcccca	13	6	10	12	1	4	2	4	0	0	2	4	2	4	2	3	3	1	1	3	3	4	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:86468866G>A	ENST00000361669.2	+	4	3135	c.2036G>A	c.(2035-2037)aGg>aAg	p.R679K	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R551K|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.R271K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	679					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)					GGCGCTCAGAGGCCAAAATTC	0.547																																					GBM(52;969 1098 3139 52280)												0													80	78	78					7																	86468866		2203	4300	6503	SO:0001583	missense	0				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.2036G>A	7.37:g.86468866G>A	ENSP00000355316:p.Arg679Lys		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.R679K	ENST00000361669.2	37	c.2036	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043992	0.55110	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.87571	-2.27;-2.27;-2.27	5.69	5.69	0.88448	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89501	0.6733	L	0.37466	1.105	0.80722	D	1	D;B;P	0.60575	0.988;0.286;0.581	D;B;B	0.63877	0.919;0.175;0.371	D	0.86523	0.1817	10	0.23302	T	0.38	.	18.7888	0.91965	0.0:0.0:1.0:0.0	.	271;551;679	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	K	679;271;551	ENSP00000355316:R679K;ENSP00000444064:R271K;ENSP00000441407:R551K	ENSP00000355316:R679K	R	+	2	0	GRM3	86306802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.683000	0.91414	0.563000	0.77884	AGG	GRM3	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000198822		0.547	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	-	0	46	0	G			86468866	1	tier1	-	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	33.33	48	24	SNP	1.000	A	A	86468866	G	A	86468866	3	1	119	1	0	0	0	0	1	0	0	0	6825	1000	35	3	2046	3	GRM3	7	86468866	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	11440267	86468866	72669797	36	31474											
ZNF394	84124	genome.wustl.edu	37	chr7	99097549	99097549	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtttcggggtccggcgaAgccgcgggatagttgggctc	6	8	18	9	5	0	0	0	0	0	0	3	3	1	1	2	5	1	3	2	5	3	3			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:99097549A>C	ENST00000337673.6	-	1	371	c.168T>G	c.(166-168)gcT>gcG	p.A56A	ZNF394_ENST00000426306.2_Silent_p.A56A|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	56					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGTCCGGCGAAGCCGCGGGAT	0.637																																					Ovarian(24;589 697 9939 12704 40742)												0													47	49	48					7																	99097549		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.168T>G	7.37:g.99097549A>C			A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A56	ENST00000337673.6	37	c.168	CCDS5666.1	7																																																																																			ZNF394	-	superfamily_Retrov_capsid_C	ENSG00000160908		0.637	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	HGNC	protein_coding	OTTHUMT00000336498.1	-	0	51	0	A	NM_032164		99097549	-1	tier1	-	no_errors	ENST00000337673	ensembl	human	known	74_37	silent	25.00	41	14	SNP	0.001	C	C	99097549	A	C	99097549	2	2	119	1	0	0	0	0	0	0	0	1	17928	59	3	4		4	ZNF394	7	99097549	Silent	SNP	A	TCGA-LN-A4MQ-01A-11D-A28B-09	12628683	99097549	60041114	37	31475											
TRIM24	8805	genome.wustl.edu	37	chr7	138264148	138264148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgttggagagacaaGgaaagaggatgaccccaatg	14	8	12	7	0	2	3	1	1	1	2	2	7	2	6	2	3	0	1	2	3	3	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:138264148G>A	ENST00000343526.4	+	15	2671	c.2456G>A	c.(2455-2457)aGg>aAg	p.R819K	TRIM24_ENST00000415680.2_Missense_Mutation_p.R785K			O15164	TIF1A_HUMAN	tripartite motif containing 24	819					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGAGAGACAAGGAAAGAGGAT	0.473																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												0													104	98	100					7																	138264148		2203	4300	6503	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2456G>A	7.37:g.138264148G>A	ENSP00000340507:p.Arg819Lys		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.R819K	ENST00000343526.4	37	c.2456	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124768	0.37533	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.75589	-0.95;1.06	5.77	5.77	0.91146	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.191999	0.49305	D	0.000145	T	0.64713	0.2623	L	0.31664	0.95	0.39898	D	0.973868	P;P	0.41784	0.717;0.762	B;B	0.41271	0.138;0.352	T	0.63084	-0.6716	10	0.06099	T	0.92	-18.1036	19.5879	0.95497	0.0:0.0:1.0:0.0	.	819;785	O15164;O15164-2	TIF1A_HUMAN;.	K	819;730;785	ENSP00000340507:R819K;ENSP00000390829:R785K	ENSP00000340507:R819K	R	+	2	0	TRIM24	137914688	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	5.781000	0.68964	2.745000	0.94114	0.650000	0.86243	AGG	TRIM24	-	superfamily_Znf_FYVE_PHD	ENSG00000122779		0.473	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1		0	48	0	G	NM_015905		138264148	1			no_errors	ENST00000343526	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	A	A	138264148	G	A	138264148	3	1	119	1	0	0	0	0	1	0	0	0	16546	1000	35	3	2514	3	TRIM24	7	138264148	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	39166599	138264148	20874515	38	31476											
ADAM28	10863	genome.wustl.edu	37	chr8	24181426	24181426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggataagataaagataacccCaaatgcaagcttcaccttgg	16	8	8	9	0	1	2	1	0	0	2	1	3	1	3	3	2	3	2	3	2	6	5			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr8:24181426C>T	ENST00000265769.4	+	9	910	c.800C>T	c.(799-801)cCa>cTa	p.P267L	ADAM28_ENST00000397649.3_Missense_Mutation_p.P14L|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.P267L|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.P34L|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	267	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGATAACCCCAAATGCAAGC	0.383																																					NSCLC(193;488 2149 22258 34798 40734)												0													108	109	109					8																	24181426		2203	4299	6502	SO:0001583	missense	0			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.800C>T	8.37:g.24181426C>T	ENSP00000265769:p.Pro267Leu		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P267L	ENST00000265769.4	37	c.800	CCDS34865.1	8	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569761	0.45798	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.41	5.41	0.78517	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.71634	0.3363	L	0.49455	1.56	0.49798	D	0.99982	D;D;D	0.65815	0.988;0.995;0.986	D;D;D	0.65443	0.93;0.935;0.913	T	0.67776	-0.5583	9	0.29301	T	0.29	.	14.701	0.69157	0.0:1.0:0.0:0.0	.	34;267;267	B4DDY3;Q9UKQ2;Q9UKQ2-2	.;ADA28_HUMAN;.	L	267;14;34;267	ENSP00000265769:P267L;ENSP00000380770:P14L;ENSP00000443743:P34L;ENSP00000393699:P267L	ENSP00000265769:P267L	P	+	2	0	ADAM28	24237371	0.005000	0.15991	0.837000	0.33122	0.063000	0.16089	2.083000	0.41615	2.532000	0.85374	0.650000	0.86243	CCA	ADAM28	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000042980		0.383	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	-	0	48	0	C	NM_021778		24181426	1	tier1	-	no_errors	ENST00000265769	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.637	T	T	24181426	C	T	24181426	3	4	119	1	0	0	0	0	1	0	0	0	246	594	21	3	834	3	ADAM28	8	24181426	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09		24181426	122182596	39	31477											
PRKDC	5591	genome.wustl.edu	37	chr8	48734271	48734271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccactcagcaaggtggttgTaacagtcaagggatgcaagt	12	9	12	8	0	2	0	2	0	0	0	3	1	3	1	1	3	3	4	1	3	4	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr8:48734271T>C	ENST00000314191.2	-	66	9058	c.9002A>G	c.(9001-9003)tAc>tGc	p.Y3001C	PRKDC_ENST00000338368.3_Missense_Mutation_p.Y3001C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3002	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAGGTGGTTGTAACAGTCAAG	0.438								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													61	60	60					8																	48734271		1852	4101	5953	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9002A>G	8.37:g.48734271T>C	ENSP00000313420:p.Tyr3001Cys		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Y3001C	ENST00000314191.2	37	c.9002		8	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779065	0.70107	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02763	4.24;4.17	5.4	5.4	0.78164	PIK-related kinase (1);	0.000000	0.64402	D	0.000001	T	0.08758	0.0217	M	0.78049	2.395	0.80722	D	1	P;P	0.46621	0.881;0.881	P;P	0.46796	0.527;0.527	T	0.08848	-1.0702	10	0.38643	T	0.18	.	15.7083	0.77602	0.0:0.0:0.0:1.0	.	3001;3002	E7EUY0;P78527	.;PRKDC_HUMAN	C	3001	ENSP00000313420:Y3001C;ENSP00000345182:Y3001C	ENSP00000313420:Y3001C	Y	-	2	0	PRKDC	48896824	1.000000	0.71417	0.917000	0.36280	0.927000	0.56198	7.655000	0.83696	2.167000	0.68274	0.528000	0.53228	TAC	PRKDC	-	pfscan_PIK_FAT	ENSG00000253729		0.438	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	58	0	T	NM_001081640		48734271	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	42.55	54	40	SNP	1.000	C	C	48734271	T	C	48734271	3	2	119	1	0	0	0	0	1	0	0	0	12563	1638	57	4	3469	4	PRKDC	8	48734271	Missense_Mutation	SNP	T	TCGA-LN-A4MQ-01A-11D-A28B-09	24552845	48734271	97629751	40	31478											
CA3	761	genome.wustl.edu	37	chr8	86357447	86357447	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggacaagattaagacaaaGgtaaacaaaaatcattttcc	19	10	6	6	0	1	2	1	0	0	2	2	3	2	3	1	2	1	1	1	2	7	5			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr8:86357447G>T	ENST00000285381.2	+	5	590	c.507G>T	c.(505-507)aaG>aaT	p.K169N	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	169					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	TTAAGACAAAGGTAAACAAAA	0.308																																																	0													90	88	88					8																	86357447		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"Carbonic anhydrases"	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.507+1G>T	8.37:g.86357447G>T			B2R867|B3KUC8|O60842	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.K169N	ENST00000285381.2	37	c.507	CCDS6238.1	8	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670751	0.67814	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.71103	-0.54	6.07	6.07	0.98685	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.86686	0.5992	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88257	0.2920	10	0.87932	D	0	-27.0286	16.1594	0.81686	0.0:0.0:1.0:0.0	.	169	P07451	CAH3_HUMAN	N	169;153	ENSP00000285381:K169N	ENSP00000285381:K169N	K	+	3	2	CA3	86544699	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	5.146000	0.64845	2.885000	0.99019	0.655000	0.94253	AAG	CA3	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000164879		0.308	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA3	HGNC	protein_coding	OTTHUMT00000381090.1	-	0	9	0	G	NM_005181	Missense_Mutation	86357447	1	tier1	-	no_errors	ENST00000285381	ensembl	human	known	74_37	missense	39.13	14	9	SNP	1.000	T	T	86357447	G	T	86357447	5	4	119	1	0	0	0	0	0	0	1	0	2524	1014	35	3	525	3	CA3	8	86357447	Splice_Site	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	37623176	86357447	60006575	41	31479											
MMP16	4325	genome.wustl.edu	37	chr8	89180161	89180161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcacggcgaatagctttaCgagtctcagggtctcctact	9	10	11	11	3	2	0	1	0	2	0	4	2	2	0	1	3	3	2	1	3	4	4			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr8:89180161C>T	ENST00000286614.6	-	4	727	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	149					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AATAGCTTTACGAGTCTCAGG	0.378																																																	0													117	105	109					8																	89180161		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.446G>A	8.37:g.89180161C>T	ENSP00000286614:p.Arg149His		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R149H	ENST00000286614.6	37	c.446	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043696	0.36085	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.56103	1.93;0.48	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.042972	0.85682	D	0.000000	T	0.49575	0.1565	L	0.49455	1.56	0.58432	D	0.999998	B;B	0.22683	0.073;0.012	B;B	0.18263	0.021;0.007	T	0.43669	-0.9377	10	0.13108	T	0.6	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	149;149	P51512-2;P51512	.;MMP16_HUMAN	H	149;166	ENSP00000286614:R149H;ENSP00000429147:R166H	ENSP00000286614:R149H	R	-	2	0	MMP16	89249277	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	5.606000	0.67641	2.937000	0.99478	0.650000	0.86243	CGT	MMP16	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000156103		0.378	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0	68	0	C	NM_005941		89180161	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	30.43	64	28	SNP	1.000	T	T	89180161	C	T	89180161	3	4	119	1	0	0	0	0	1	0	0	0	9693	536	19	1	1561	1	MMP16	8	89180161	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	2822714	89180161	57183861	42	31480											
FAM135B	51059	genome.wustl.edu	37	chr8	139144969	139144969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcgtggaacacgttgtgtCggattaaagtgcagtccttg	8	11	15	7	3	0	0	0	0	0	0	2	2	1	2	1	3	2	2	1	3	3	3			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr8:139144969C>T	ENST00000395297.1	-	20	4258	c.4088G>A	c.(4087-4089)cGa>cAa	p.R1363Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1363										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)			CACGTTGTGTCGGATTAAAGT	0.532										HNSCC(54;0.14)																																							0													249	257	255					8																	139144969		1984	4164	6148	SO:0001583	missense	0			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.4088G>A	8.37:g.139144969C>T	ENSP00000378710:p.Arg1363Gln		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.R1363Q	ENST00000395297.1	37	c.4088	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	36	5.928355	0.97116	.	.	ENSG00000147724	ENST00000395297	T	0.25912	1.77	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.58949	0.2158	M	0.87038	2.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.65067	-0.6258	10	0.87932	D	0	-11.9564	18.6987	0.91613	0.0:1.0:0.0:0.0	.	1363	Q49AJ0	F135B_HUMAN	Q	1363	ENSP00000378710:R1363Q	ENSP00000378710:R1363Q	R	-	2	0	FAM135B	139214151	1.000000	0.71417	0.843000	0.33291	0.997000	0.91878	7.818000	0.86416	2.676000	0.91093	0.591000	0.81541	CGA	FAM135B	-	NULL	ENSG00000147724		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	40	0	C	NM_015912		139144969	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	26.47	50	18	SNP	1.000	T	T	139144969	C	T	139144969	3	4	119	1	0	0	0	0	1	0	0	0	5468	884	31	1	136	1	FAM135B	8	139144969	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	49964808	139144969	7219053	43	31481											
ANKS6	203286	genome.wustl.edu	37	chr9	101542596	101542596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacctgcatgcagacagatgCcagcagtcgaacaagttccg	12	6	10	13	2	0	2	0	0	0	2	2	3	1	2	3	0	5	4	3	0	2	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr9:101542596C>G	ENST00000353234.4	-	6	1290	c.1243G>C	c.(1243-1245)Gca>Cca	p.A415P	ANKS6_ENST00000375019.2_Missense_Mutation_p.A114P|ANKS6_ENST00000540940.1_Missense_Mutation_p.A220P|ANKS6_ENST00000375018.1_Missense_Mutation_p.A415P			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	415						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)				CAGACAGATGCCAGCAGTCGA	0.542																																																	0													30	33	32					9																	101542596		1950	4159	6109	SO:0001583	missense	0			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.1243G>C	9.37:g.101542596C>G	ENSP00000297837:p.Ala415Pro		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.A415P	ENST00000353234.4	37	c.1243	CCDS43856.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.203915	0.95033	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.34667	1.35;1.35;1.35;1.83	5.95	5.95	0.96441	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	M	0.65498	2.005	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.59658	-0.7413	10	0.62326	D	0.03	-13.8929	17.887	0.88858	0.0:1.0:0.0:0.0	.	415	Q68DC2	ANKS6_HUMAN	P	114;415;415;220	ENSP00000364159:A114P;ENSP00000364158:A415P;ENSP00000297837:A415P;ENSP00000442189:A220P	ENSP00000297837:A415P	A	-	1	0	ANKS6	100582417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.237000	0.78164	2.824000	0.97209	0.655000	0.94253	GCA	ANKS6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000165138		0.542	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	-	0	60	0	C	NM_173551		101542596	-1	tier1	-	no_errors	ENST00000375018	ensembl	human	known	74_37	missense	8.57	64	6	SNP	1.000	G	G	101542596	C	G	101542596	3	3	119	1	0	0	0	0	1	0	0	0	692	739	26	5	1412	5	ANKS6	9	101542596	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09		101542596	39670835	44	31482											
SETX	23064	genome.wustl.edu	37	chr9	135173511	135173511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taaatcttttgtacagaagtCcatagggtttggattcagaa	13	14	9	5	0	2	2	1	0	1	2	3	3	3	3	1	2	1	2	1	2	6	7			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr9:135173511C>G	ENST00000224140.5	-	13	5919	c.5737G>C	c.(5737-5739)Gac>Cac	p.D1913H	SETX_ENST00000393220.1_Missense_Mutation_p.D1913H|SETX_ENST00000372169.2_Missense_Mutation_p.D1913H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1913					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)		GTACAGAAGTCCATAGGGTTT	0.378																																																	0													123	118	119					9																	135173511		2203	4300	6503	SO:0001583	missense	0			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.5737G>C	9.37:g.135173511C>G	ENSP00000224140:p.Asp1913His		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.D1913H	ENST00000224140.5	37	c.5737	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573446	0.65765	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90732	-2.22;-2.72;-2.31;-1.92	5.73	3.88	0.44766	.	2.357600	0.01778	N	0.031580	D	0.93284	0.7860	L	0.36672	1.1	0.35205	D	0.774596	P;D;D	0.76494	0.657;0.998;0.999	B;D;D	0.68483	0.3;0.909;0.958	T	0.81699	-0.0814	10	0.72032	D	0.01	.	10.0288	0.42087	0.0:0.8428:0.0:0.1572	.	1913;1913;1913	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	1913;155;1913;1913	ENSP00000224140:D1913H;ENSP00000409143:D155H;ENSP00000361242:D1913H;ENSP00000376913:D1913H	ENSP00000224140:D1913H	D	-	1	0	SETX	134163332	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.766000	0.47629	0.745000	0.32763	0.591000	0.81541	GAC	SETX	-	superfamily_P-loop_NTPase	ENSG00000107290		0.378	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	-	0	32	0	C	NM_015046		135173511	-1	tier1	-	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	G	G	135173511	C	G	135173511	3	3	119	1	0	0	0	0	1	0	0	0	14186	855	30	5	2352	5	SETX	9	135173511	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	33630915	135173511	6039920	45	31483											
ARRDC1	92714	genome.wustl.edu	37	chr9	140508651	140508651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggacaccagccctgtggtGgccagtctgctgcaggtcag	8	7	14	12	0	2	0	1	0	1	0	2	1	2	1	3	4	3	2	3	4	1	0			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr9:140508651G>A	ENST00000371421.4	+	5	667	c.603G>A	c.(601-603)gtG>gtA	p.V201V	C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	201						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GCCCTGTGGTGGCCAGTCTGC	0.667																																																	0													74	75	75					9																	140508651		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"alpha-arrestin 1"					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.603G>A	9.37:g.140508651G>A				Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.V201	ENST00000371421.4	37	c.603	CCDS7049.1	9																																																																																			ARRDC1	-	pfam_Arrestin_C-like,superfamily_Ig_E-set	ENSG00000197070		0.667	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC1	HGNC	protein_coding	OTTHUMT00000055358.1	-	0	41	0	G	NM_152285		140508651	1	tier1	-	no_errors	ENST00000371421	ensembl	human	known	74_37	silent	70.51	23	55	SNP	1.000	A	A	140508651	G	A	140508651	2	1	119	1	0	0	0	0	0	0	0	1	983	1335	47	3		3	ARRDC1	9	140508651	Silent	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	5335140	140508651	704780	46	31484											
PTEN	5728	genome.wustl.edu	37	chr10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	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	actgtaaagctggaaagggaCgaactggtgtaatgatatgt	14	10	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292|rs121909224		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	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"	224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(1)|urinary_tract(1)	GRCh37	CM971273	PTEN	M	rs121909224						141	131	134					10																	89692904		2203	4300	6503	SO:0001587	stop_gained	0	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.388C>T	10.37:g.89692904C>T	ENSP00000361021:p.Arg130*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R130*	ENST00000371953.3	37	c.388	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	48	14.299622	0.99789	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	-	0	96	0	C	NM_000314		89692904	1	tier1	rs121909224	no_errors	ENST00000371953	ensembl	human	known	74_37	nonsense	9.09	80	8	SNP	1.000	T	T	89692904	C	T	89692904	4	4	119	1	0	0	0	0	0	1	0	0	12780	528	19	1	406	1	PTEN	10	89692904	Nonsense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09		89692904	45841843	47	31485											
PTEN	5728	genome.wustl.edu	37	chr10	89717762	89717762	+	Nonsense_Mutation	SNP	A	A	T	1	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	agttcttccacaaacagaacAagatgctaaaaaaggtttgt	17	10	7	7	0	1	2	0	0	1	2	2	2	2	2	1	1	3	3	1	1	6	4			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr10:89717762A>T	ENST00000371953.3	+	7	2144	c.787A>T	c.(787-789)Aag>Tag	p.K263*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	263	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.K263*(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(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)		CAAACAGAACAAGATGCTAAA	0.368		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(9)|Substitution - Nonsense(3)|Deletion - In frame(1)|Complex - deletion inframe(1)|Unknown(1)	prostate(16)|central_nervous_system(11)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)|kidney(1)											97	88	91					10																	89717762		2203	4300	6503	SO:0001587	stop_gained	0	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.787A>T	10.37:g.89717762A>T	ENSP00000361021:p.Lys263*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.K263*	ENST00000371953.3	37	c.787	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	A	49	15.476535	0.99835	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	5.15	0.70609	.	0.093551	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1303	14.9657	0.71193	1.0:0.0:0.0:0.0	.	.	.	.	X	263	.	.	K	+	1	0	PTEN	89707742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.918000	0.92759	1.928000	0.55862	0.477000	0.44152	AAG	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	-	0	64	0	A	NM_000314		89717762	1	tier1	-	no_errors	ENST00000371953	ensembl	human	known	74_37	nonsense	55.00	36	44	SNP	1.000	T	T	89717762	A	T	89717762	4	4	119	1	0	0	0	0	0	1	0	0	12780	131	5	5	813	5	PTEN	10	89717762	Nonsense_Mutation	SNP	A	TCGA-LN-A4MQ-01A-11D-A28B-09	24858	89717762	45816985	48	31486											
CTBP2	1488	genome.wustl.edu	37	chr10	126678087	126678087	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccttctggcattctctgCtattgctcgttggggtgctc	3	17	10	11	1	2	0	0	0	2	0	5	0	2	0	1	3	4	5	1	3	2	6	rs111888382		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr10:126678087C>T	ENST00000337195.5	-	11	1737	c.1338G>A	c.(1336-1338)taG>taA	p.*446*	CTBP2_ENST00000531469.1_Silent_p.*446*|CTBP2_ENST00000309035.6_Silent_p.*986*|CTBP2_ENST00000411419.2_Silent_p.*446*|CTBP2_ENST00000334808.6_Silent_p.*514*|CTBP2_ENST00000494626.2_Silent_p.*446*	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					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)		GCATTCTCTGCTATTGCTCGT	0.488																																																	0													76	81	79					10																	126678087		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1338G>A	10.37:g.126678087C>T			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.*986	ENST00000337195.5	37	c.2958	CCDS7643.1	10																																																																																			CTBP2	-	NULL	ENSG00000175029		0.488	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	-	0	77	0	C	NM_001083914		126678087	-1	tier1	rs111888382	no_errors	ENST00000309035	ensembl	human	known	74_37	silent	6.12	92	6	SNP	1.000	T	T	126678087	C	T	126678087	2	4	119	1	0	0	0	0	0	0	0	1	4007	808	28	3		3	CTBP2	10	126678087	Silent	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	36960325	126678087	8856660	49	31487											
DCHS1	8642	genome.wustl.edu	37	chr11	6662744	6662744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcacctggcaccccagccCccagcagcagcagcagcagc	10	1	11	19	0	0	0	0	0	0	0	0	0	0	0	5	2	7	7	5	2	0	0			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr11:6662744C>A	ENST00000299441.3	-	2	512	c.101G>T	c.(100-102)gGg>gTg	p.G34V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	34					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)		CACCCCAGCCCCcagcagcag	0.642																																																	0													8	8	8					11																	6662744		2165	4229	6394	SO:0001583	missense	0			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.101G>T	11.37:g.6662744C>A	ENSP00000299441:p.Gly34Val		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G34V	ENST00000299441.3	37	c.101	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535676	0.45176	.	.	ENSG00000166341	ENST00000299441	T	0.54279	0.58	5.32	5.32	0.75619	.	0.000000	0.40554	N	0.001076	T	0.65176	0.2666	M	0.68952	2.095	0.47584	D	0.999464	D	0.64830	0.994	P	0.61328	0.887	T	0.60286	-0.7293	10	0.10902	T	0.67	.	16.1489	0.81599	0.0:1.0:0.0:0.0	.	34	Q96JQ0	PCD16_HUMAN	V	34	ENSP00000299441:G34V	ENSP00000299441:G34V	G	-	2	0	DCHS1	6619320	0.845000	0.29573	0.928000	0.36995	0.824000	0.46624	1.469000	0.35343	2.489000	0.83994	0.579000	0.79373	GGG	DCHS1	-	NULL	ENSG00000166341		0.642	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1		0	48	0	C	NM_003737		6662744	-1			no_errors	ENST00000299441	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.981	A	A	6662744	C	A	6662744	3	1	119	1	0	0	0	0	1	0	0	0	4296	623	22	3	9875	3	DCHS1	11	6662744	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09		6662744	128343772	50	31488											
NUMA1	4926	genome.wustl.edu	37	chr11	71726383	71726384	+	Frame_Shift_Ins	INS	-	-	T																															gggcatctgcagccctgcgcINSttctcctcttcaaggctgcc																										TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr11:71726383_71726384insT	ENST00000393695.3	-	15	2496_2497	c.2165_2166insA	c.(2164-2166)aagfs	p.K722fs	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.K722fs|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CAGCCCTGCGCTTCTCCTCTTC	0.589			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0																																										SO:0001589	frameshift_variant	0			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.2166dupA	11.37:g.71726385_71726385dupT	ENSP00000377298:p.Lys722fs			Frame_Shift_Ins	INS	superfamily_Prefoldin	p.R723fs	ENST00000393695.3	37	c.2166_2165	CCDS31633.1	11																																																																																			NUMA1	-	NULL	ENSG00000137497		0.589	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1		0	16	0	-			71726384	-1	tier1		no_errors	ENST00000393695	ensembl	human	known	74_37	frame_shift_ins	46.88	17	15	INS	0.967:1.000	T	T	71726384	-	T	71726383	7	5	119	1	0	1	1	0	0	0	0	0	10789	796	28	0	4233	0	NUMA1	11	71726383	Frame_Shift_Ins	INS	-	TCGA-LN-A4MQ-01A-11D-A28B-09	65063639	71726383	63280133	51	31489											
RARG	5916	genome.wustl.edu	37	chr12	53621213	53621213	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagctagggctcagcatctcGaaaggcggagaccccctgag	11	5	13	12	2	2	2	1	1	1	1	3	4	2	2	2	3	2	3	2	3	3	1	rs556025298		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr12:53621213G>A	ENST00000425354.2	-	3	604	c.117C>T	c.(115-117)ttC>ttT	p.F39F	RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_Intron|RARG_ENST00000394426.1_Silent_p.F39F	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	39	Modulating.				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)	TCAGCATCTCGAAAGGCGGAG	0.642													G|||	1	0.000199681	0	0	5008	,	,		16776	0		0.001	False		,,,				2504	0																0													45	49	48					12																	53621213		2203	4300	6503	SO:0001819	synonymous_variant	0			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.117C>T	12.37:g.53621213G>A			B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.F39	ENST00000425354.2	37	c.117	CCDS8850.1	12																																																																																			RARG	-	NULL	ENSG00000172819		0.642	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	-	0	117	0	G	NM_000966		53621213	-1	tier1	-	no_errors	ENST00000394426	ensembl	human	known	74_37	silent	22.06	106	30	SNP	0.998	A	A	53621213	G	A	53621213	2	1	119	1	0	0	0	0	0	0	0	1	13099	1049	37	1		1	RARG	12	53621213	Silent	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09		53621213	80230682	52	31490											
SMARCC2	6601	genome.wustl.edu	37	chr12	56574884	56574884	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttagtgtaaggtgttgaggGactgggaaggaaagagagtg	12	9	18	2	0	0	2	0	1	0	1	0	6	0	5	0	4	0	2	0	4	4	3			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr12:56574884G>A	ENST00000267064.4	-	11	1044	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	SMARCC2_ENST00000347471.4_Splice_Site_p.P320S|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'Flank|SMARCC2_ENST00000550164.1_Splice_Site_p.P320S|SMARCC2_ENST00000394023.3_Splice_Site_p.P320S	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	320					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)			GGTGTTGAGGGACTGGGAAGG	0.502																																																	0													175	155	161					12																	56574884		2203	4300	6503	SO:0001630	splice_region_variant	0			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.957-1C>T	12.37:g.56574884G>A			F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.P320S	ENST00000267064.4	37	c.958	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794236	0.50102	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.42900	0.96;0.96;0.97	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	L	0.31420	0.93	0.48571	D	0.999671	D;D;D;D;D	0.60575	0.98;0.988;0.98;0.98;0.988	D;D;D;D;D	0.75484	0.968;0.986;0.968;0.968;0.986	T	0.37596	-0.9699	10	0.24483	T	0.36	-10.4397	16.3131	0.82904	0.0:0.0:1.0:0.0	.	209;320;325;320;320	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	S	320	ENSP00000449396:P320S;ENSP00000302919:P320S;ENSP00000267064:P320S	ENSP00000267064:P320S	P	-	1	0	SMARCC2	54861151	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	6.066000	0.71185	2.572000	0.86782	0.555000	0.69702	CCC	SMARCC2	-	superfamily_Chromodomain-like	ENSG00000139613		0.502	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	-	0	87	0	G		Missense_Mutation	56574884	-1	tier1	-	no_errors	ENST00000267064	ensembl	human	known	74_37	missense	22.22	91	26	SNP	1.000	A	A	56574884	G	A	56574884	5	1	119	1	0	0	0	0	0	0	1	0	14821	1188	41	3	2855	3	SMARCC2	12	56574884	Splice_Site	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	2953671	56574884	77277011	53	31491											
GPR109A	338442	genome.wustl.edu	37	chr12	123187427	123187427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattggagatcttgttcaggGcgtggtggggatggaccacc	7	10	17	7	1	2	1	1	0	1	1	2	5	2	3	2	6	0	1	2	6	0	3			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr12:123187427G>A	ENST00000328880.5	-	1	463	c.404C>T	c.(403-405)gCc>gTc	p.A135V	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	135					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)	CTTGTTCAGGGCGTGGTGGGG	0.557																																																	0													130	116	121					12																	123187427		2203	4300	6503	SO:0001583	missense	0			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.404C>T	12.37:g.123187427G>A	ENSP00000375066:p.Ala135Val		A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A135V	ENST00000328880.5	37	c.404	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	G	6.960	0.547124	0.13312	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.37752	1.18	5.55	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.737099	0.12172	N	0.492920	T	0.31796	0.0808	M	0.62016	1.91	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.28776	-1.0033	10	0.38643	T	0.18	-2.4437	5.1464	0.14987	0.2487:0.3092:0.4421:0.0	.	135	Q8TDS4	HCAR2_HUMAN	V	135	ENSP00000375066:A135V	ENSP00000375066:A135V	A	-	2	0	HCAR2	121753380	0.001000	0.12720	0.000000	0.03702	0.990000	0.78478	1.060000	0.30530	0.122000	0.18314	0.655000	0.94253	GCC	HCAR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182782		0.557	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	-	0	81	0	G	NM_177551		123187427	-1	tier1	-	no_errors	ENST00000328880	ensembl	human	known	74_37	missense	25.00	138	46	SNP	0.000	A	A	123187427	G	A	123187427	3	1	119	1	0	0	0	0	1	0	0	0	6651	1203	42	3	691	3	GPR109A	12	123187427	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	66612543	123187427	10664468	54	31492											
RB1	5925	genome.wustl.edu	37	chr13	48955516	48955516	+	Frame_Shift_Del	DEL	A	A	-																															gcagaaggcaacttgacaagAgaaatgataaaacatttaga																								rs143948310	byFrequency	TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr13:48955516delA	ENST00000267163.4	+	17	1770	c.1632delA	c.(1630-1632)agafs	p.R544fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	544	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		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)"	ACTTGACAAGAGAAATGATAA	0.333		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"	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											83	78	80					13																	48955516		2203	4300	6503	SO:0001589	frameshift_variant	0	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.1632delA	13.37:g.48955516delA	ENSP00000267163:p.Arg544fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.E545fs	ENST00000267163.4	37	c.1632	CCDS31973.1	13																																																																																			RB1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000139687		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1		0	31	0	A			48955516	1	tier1		no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	65.91	15	29	DEL	1.000	-	-	48955516	A	-	48955516	7	5	119	1	0	1	0	1	0	0	0	0	13143	301	11	0	1698	0	RB1	13	48955516	Frame_Shift_Del	DEL	A	TCGA-LN-A4MQ-01A-11D-A28B-09		48955516	66214362	55	31493											
NEK5	341676	genome.wustl.edu	37	chr13	52649950	52649950	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtctaaattaatttcaaAttttacccccttctaggaga	12	17	4	8	0	3	1	1	0	2	1	3	2	3	1	2	1	1	0	2	1	6	8			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr13:52649950A>T	ENST00000355568.4	-	20	1880	c.1741T>A	c.(1741-1743)Ttt>Att	p.F581I		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	581					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)		TTAATTTCAAATTTTACCCCC	0.299																																																	0													32	32	32					13																	52649950		2199	4290	6489	SO:0001583	missense	0			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.1741T>A	13.37:g.52649950A>T	ENSP00000347767:p.Phe581Ile		Q5TAP5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F581I	ENST00000355568.4	37	c.1741	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989681	0.53934	.	.	ENSG00000197168	ENST00000355568	T	0.28454	1.61	5.95	4.77	0.60923	.	0.000000	0.64402	D	0.000001	T	0.35248	0.0925	L	0.51422	1.61	0.27235	N	0.959308	D	0.56287	0.975	P	0.51945	0.685	T	0.15037	-1.0451	10	0.27082	T	0.32	.	8.7549	0.34639	0.9151:0.0:0.0849:0.0	.	581	Q6P3R8	NEK5_HUMAN	I	581	ENSP00000347767:F581I	ENSP00000347767:F581I	F	-	1	0	NEK5	51547951	0.998000	0.40836	0.993000	0.49108	0.379000	0.30106	3.047000	0.49854	1.081000	0.41110	0.460000	0.39030	TTT	NEK5	-	NULL	ENSG00000197168		0.299	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	-	0	37	0	A	NM_199289		52649950	-1	tier1	-	no_errors	ENST00000355568	ensembl	human	known	74_37	missense	25.86	43	15	SNP	1.000	T	T	52649950	A	T	52649950	3	4	119	1	0	0	0	0	1	0	0	0	10366	101	4	5	397	5	NEK5	13	52649950	Missense_Mutation	SNP	A	TCGA-LN-A4MQ-01A-11D-A28B-09	3694434	52649950	62519928	56	31494											
ARHGAP5	394	genome.wustl.edu	37	chr14	32561049	32561049	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgggatgaaactgaccatAtagacaaaattaatgatagg	17	10	9	5	0	0	4	0	3	0	1	0	5	0	5	1	2	1	0	1	2	7	5	rs372981423		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr14:32561049A>G	ENST00000345122.3	+	2	1489	c.1174A>G	c.(1174-1176)Ata>Gta	p.I392V	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I392V|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I392V|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I392V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	392	FF 2.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AACTGACCATATAGACAAAAT	0.378																																					NSCLC(9;77 350 3443 29227 41353)												0								A	VAL/ILE,VAL/ILE	0,4402		0,0,2201	99	105	103		1174,1174	5.6	1	14		103	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	ARHGAP5	NM_001030055.1,NM_001173.2	29,29	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	392/1503,392/1502	32561049	1,12993	2201	4296	6497	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1174A>G	14.37:g.32561049A>G	ENSP00000371897:p.Ile392Val		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.I392V	ENST00000345122.3	37	c.1174	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	A	7.638	0.680192	0.14907	0.0	1.16E-4	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.64	5.64	0.86602	FF domain (1);	0.089541	0.64402	D	0.000001	T	0.13372	0.0324	N	0.24115	0.695	0.48632	D	0.999683	B;B	0.30686	0.29;0.191	B;B	0.42462	0.388;0.217	T	0.26815	-1.0092	10	0.32370	T	0.25	.	15.8548	0.78968	1.0:0.0:0.0:0.0	.	392;392	Q13017-2;Q13017	.;RHG05_HUMAN	V	392	ENSP00000452222:I392V;ENSP00000441692:I392V;ENSP00000371897:I392V;ENSP00000393307:I392V	ENSP00000371897:I392V	I	+	1	0	ARHGAP5	31630800	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.144000	0.71762	2.138000	0.66242	0.460000	0.39030	ATA	ARHGAP5	-	smart_FF_domain	ENSG00000100852		0.378	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0	21	0	A	NM_001030055		32561049	1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	G	G	32561049	A	G	32561049	3	3	119	1	0	0	0	0	1	0	0	0	886	449	16	4	1176	4	ARHGAP5	14	32561049	Missense_Mutation	SNP	A	TCGA-LN-A4MQ-01A-11D-A28B-09		32561049	74788491	57	31495											
FUT8	2530	genome.wustl.edu	37	chr14	66190950	66190950	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgcatgttgaagaacatTttcagcttcttgcacgcaga	10	13	10	8	1	2	3	1	1	1	2	2	3	2	3	0	1	4	5	0	1	2	5			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr14:66190950T>A	ENST00000360689.5	+	9	2895	c.1168T>A	c.(1168-1170)Ttt>Att	p.F390I	FUT8_ENST00000394585.1_Missense_Mutation_p.F390I|FUT8_ENST00000394586.2_Missense_Mutation_p.F390I|FUT8_ENST00000358307.2_Missense_Mutation_p.F261I|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000557164.1_Missense_Mutation_p.F227I	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	390	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGAAGAACATTTTCAGCTTCT	0.433																																																	0													126	103	111					14																	66190950		2203	4300	6503	SO:0001583	missense	0			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1168T>A	14.37:g.66190950T>A	ENSP00000353910:p.Phe390Ile		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.F390I	ENST00000360689.5	37	c.1168	CCDS9775.1	14	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541277	0.85917	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.81	5.81	0.92471	.	0.047262	0.85682	D	0.000000	T	0.36936	0.0985	M	0.81341	2.54	0.80722	D	1	P;P	0.47253	0.794;0.892	B;P	0.44422	0.218;0.449	T	0.26916	-1.0089	10	0.35671	T	0.21	-16.3219	14.1188	0.65172	0.0:0.0:0.0:1.0	.	261;390	G3XAD2;Q9BYC5	.;FUT8_HUMAN	I	390;390;227;390;261	ENSP00000353910:F390I;ENSP00000378087:F390I;ENSP00000452433:F227I;ENSP00000378086:F390I;ENSP00000351057:F261I	ENSP00000351057:F261I	F	+	1	0	FUT8	65260703	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.988000	0.88194	2.210000	0.71456	0.533000	0.62120	TTT	FUT8	-	pirsf_Alpha1_6FUT_euk	ENSG00000033170		0.433	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	-	0	44	0	T	NM_004480		66190950	1	tier1	-	no_errors	ENST00000360689	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A	A	66190950	T	A	66190950	3	1	119	1	0	0	0	0	1	0	0	0	6134	1841	64	5	1293	5	FUT8	14	66190950	Missense_Mutation	SNP	T	TCGA-LN-A4MQ-01A-11D-A28B-09	33629901	66190950	41158590	58	31496											
ATG2B	55102	genome.wustl.edu	37	chr14	96752289	96752289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgtgttctcgagccgcagTttcataaatggtctgagccg	7	12	11	11	4	3	1	1	1	2	0	5	2	3	1	2	1	2	3	2	1	2	3			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr14:96752289T>C	ENST00000359933.4	-	42	6933	c.6040A>G	c.(6040-6042)Act>Gct	p.T2014A		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2014					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)		CGAGCCGCAGTTTCATAAATG	0.562																																																	0													41	39	40					14																	96752289		2203	4300	6503	SO:0001583	missense	0			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.6040A>G	14.37:g.96752289T>C	ENSP00000353010:p.Thr2014Ala		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.T2014A	ENST00000359933.4	37	c.6040	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114331	0.77210	.	.	ENSG00000066739	ENST00000359933	T	0.09445	2.98	5.8	5.8	0.92144	Autophagy-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	N	0.11927	0.2	0.53688	D	0.999976	D	0.76494	0.999	D	0.85130	0.997	T	0.20273	-1.0280	10	0.39692	T	0.17	.	16.1596	0.81693	0.0:0.0:0.0:1.0	.	2014	Q96BY7	ATG2B_HUMAN	A	2014	ENSP00000353010:T2014A	ENSP00000353010:T2014A	T	-	1	0	ATG2B	95822042	1.000000	0.71417	0.106000	0.21319	0.694000	0.40290	4.792000	0.62467	2.216000	0.71823	0.533000	0.62120	ACT	ATG2B	-	pfam_Autophagy-rel_C	ENSG00000066739		0.562	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	-	0	52	0	T	NM_018036		96752289	-1	tier1	-	no_errors	ENST00000359933	ensembl	human	known	74_37	missense	54.55	30	36	SNP	0.997	C	C	96752289	T	C	96752289	3	2	119	1	0	0	0	0	1	0	0	0	1095	1725	60	4	200	4	ATG2B	14	96752289	Missense_Mutation	SNP	T	TCGA-LN-A4MQ-01A-11D-A28B-09	30561339	96752289	10597251	59	31497											
ZSCAN29	146050	genome.wustl.edu	37	chr15	43658902	43658902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcgtctgtctcctatgtGgctgccacttggaagttctt	5	15	9	12	1	3	0	0	0	3	0	5	1	3	1	2	2	1	2	2	2	2	4			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr15:43658902G>T	ENST00000396976.2	-	3	762	c.628C>A	c.(628-630)Cac>Aac	p.H210N	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.H209N|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	210					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)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		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;8.97e-07)		TCTCCTATGTGGCTGCCACTT	0.502																																																	0													91	87	88					15																	43658902		2201	4299	6500	SO:0001583	missense	0			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.628C>A	15.37:g.43658902G>T	ENSP00000380174:p.His210Asn		B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H210N	ENST00000396976.2	37	c.628	CCDS10095.2	15	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.401772	0.01165	.	.	ENSG00000140265	ENST00000396976	T	0.07216	3.21	4.17	-0.406	0.12389	.	0.747867	0.11879	N	0.520728	T	0.08268	0.0206	M	0.65498	2.005	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.0	T	0.38308	-0.9667	10	0.27785	T	0.31	4.501	3.1539	0.06498	0.3077:0.0:0.4491:0.2432	.	209;210;210	C9K0J8;Q8IWY8-3;Q8IWY8	.;.;ZSC29_HUMAN	N	210	ENSP00000380174:H210N	ENSP00000380174:H210N	H	-	1	0	ZSCAN29	41446194	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	0.034000	0.13776	-0.182000	0.10602	-0.794000	0.03295	CAC	ZSCAN29	-	NULL	ENSG00000140265		0.502	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	HGNC	protein_coding	OTTHUMT00000253278.1		0	73	0	G	NM_152455		43658902	-1			no_errors	ENST00000396976	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.003	T	T	43658902	G	T	43658902	3	4	119	1	0	0	0	0	1	0	0	0	18284	1348	47	3	1942	3	ZSCAN29	15	43658902	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09		43658902	58872490	60	31498											
LBXCOR1	390598	genome.wustl.edu	37	chr15	68124644	68124644	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactgctcctggaacaaatgGagctccgcaagaagctggaa	14	6	11	10	1	0	1	0	0	0	1	2	4	2	4	2	3	5	4	2	3	6	0			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr15:68124644G>T	ENST00000380035.2	+	6	2678	c.2620G>T	c.(2620-2622)Gag>Tag	p.E874*	SKOR1_ENST00000554240.1_Nonsense_Mutation_p.E835*|SKOR1_ENST00000554054.1_Nonsense_Mutation_p.E846*|SKOR1_ENST00000389002.1_Nonsense_Mutation_p.E830*|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000341418.5_Nonsense_Mutation_p.E777*|RP11-34F13.2_ENST00000502156.1_lincRNA			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	874					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.E830K(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GGAACAAATGGAGCTCCGCAA	0.532											OREG0023215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)											135	137	136					15																	68124644		2200	4298	6498	SO:0001587	stop_gained	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2620G>T	15.37:g.68124644G>T	ENSP00000369374:p.Glu874*	1104	A6NIP4|A6NJY0|Q2VWA5	Nonsense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.E874*	ENST00000380035.2	37	c.2620		15	.	.	.	.	.	.	.	.	.	.	G	42	9.286499	0.99125	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	.	.	.	5.33	5.33	0.75918	.	0.059324	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-20.6609	16.7928	0.85593	0.0:0.0:1.0:0.0	.	.	.	.	X	777;835;846;874;830	.	ENSP00000343200:E777X	E	+	1	0	SKOR1	65911698	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.923000	0.92808	2.492000	0.84095	0.561000	0.74099	GAG	SKOR1	-	NULL	ENSG00000188779		0.532	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	-	0	28	0	G	NM_001031807		68124644	1	tier1	-	no_errors	ENST00000380035	ensembl	human	known	74_37	nonsense	17.78	37	8	SNP	1.000	T	T	68124644	G	T	68124644	4	4	119	1	0	0	0	0	0	1	0	0	8683	1175	41	3	2514	3	LBXCOR1	15	68124644	Nonsense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	24465742	68124644	34406748	61	31499											
TSC2	7249	genome.wustl.edu	37	chr16	2126084	2126084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaggtttaatcagtacatCgtgtgtctggcccatcacgt	8	13	9	11	2	4	0	3	0	1	0	5	0	4	0	1	2	1	2	1	2	2	3	rs137854232		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr16:2126084C>T	ENST00000219476.3	+	24	3285	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	TSC2_ENST00000568454.1_Silent_p.I896I|TSC2_ENST00000439673.2_Silent_p.I848I|TSC2_ENST00000401874.2_Silent_p.I885I|TSC2_ENST00000382538.6_Silent_p.I836I|TSC2_ENST00000353929.4_Silent_p.I885I|TSC2_ENST00000350773.4_Silent_p.I885I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	885					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)				ATCAGTACATCGTGTGTCTGG	0.557			"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													116	98	104					16																	2126084		2198	4299	6497	SO:0001819	synonymous_variant	0	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.2655C>T	16.37:g.2126084C>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.I885	ENST00000219476.3	37	c.2655	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin-type_domain,prints_Tuberin	ENSG00000103197		0.557	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0	162	0	C	NM_000548		2126084	1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	silent	11.36	156	20	SNP	0.936	T	T	2126084	C	T	2126084	2	4	119	1	0	0	0	0	0	0	0	1	16654	874	31	1		1	TSC2	16	2126084	Silent	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09		2126084	88228669	62	31500											
NTN3	4917	genome.wustl.edu	37	chr16	2521982	2521982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cggccagccctctgtgctggCgctcggagtccctgcctcgg	2	8	14	17	4	1	0	0	0	1	0	4	1	2	1	4	4	3	2	4	4	0	0			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr16:2521982C>T	ENST00000293973.1	+	1	483	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	94	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TCTGTGCTGGCGCTCGGAGTC	0.716																																																	0													10	12	11					16																	2521982		2051	4103	6154	SO:0001583	missense	0			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.280C>T	16.37:g.2521982C>T	ENSP00000293973:p.Arg94Cys			Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.R94C	ENST00000293973.1	37	c.280	CCDS10469.1	16	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362308	0.41902	.	.	ENSG00000162068	ENST00000293973	T	0.75704	-0.96	3.62	3.62	0.41486	Laminin, N-terminal (3);	0.163369	0.39687	N	0.001285	T	0.76399	0.3982	M	0.67700	2.07	0.53005	D	0.999967	D	0.60575	0.988	P	0.51266	0.664	T	0.79249	-0.1881	10	0.87932	D	0	.	9.5805	0.39484	0.2098:0.7902:0.0:0.0	.	94	O00634	NET3_HUMAN	C	94	ENSP00000293973:R94C	ENSP00000293973:R94C	R	+	1	0	NTN3	2461983	1.000000	0.71417	0.975000	0.42487	0.041000	0.13682	5.587000	0.67510	1.864000	0.54056	0.448000	0.29417	CGC	NTN3	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000162068		0.716	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN3	HGNC	protein_coding	OTTHUMT00000250812.1	-	0	52	0	C	NM_006181		2521982	1	tier1	-	no_errors	ENST00000293973	ensembl	human	known	74_37	missense	19.30	46	11	SNP	1.000	T	T	2521982	C	T	2521982	3	4	119	1	0	0	0	0	1	0	0	0	10740	768	27	1	282	1	NTN3	16	2521982	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	395898	2521982	87832771	63	31501											
ZNF267	10308	genome.wustl.edu	37	chr16	31927357	31927357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtcttactgtgcatcggcGaactcatactggagagaaac	12	9	11	9	2	2	1	1	0	1	1	3	4	2	2	0	3	5	1	0	3	4	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr16:31927357G>A	ENST00000300870.10	+	4	1996	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	596					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)	p.R596Q(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATCGGCGAACTCATACT	0.393																																																	1	Substitution - Missense(1)	large_intestine(1)											70	74	73					16																	31927357		2197	4300	6497	SO:0001583	missense	0			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1787G>A	16.37:g.31927357G>A	ENSP00000300870:p.Arg596Gln		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R596Q	ENST00000300870.10	37	c.1787	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	10.26	1.301044	0.23650	.	.	ENSG00000185947	ENST00000300870	T	0.02369	4.32	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02807	0.0084	M	0.69358	2.11	0.18873	N	0.999982	P	0.35507	0.506	B	0.12156	0.007	T	0.41233	-0.9520	9	0.56958	D	0.05	.	2.8196	0.05467	0.3837:0.0:0.6163:0.0	.	596	Q14586	ZN267_HUMAN	Q	596	ENSP00000300870:R596Q	ENSP00000300870:R596Q	R	+	2	0	ZNF267	31834858	0.000000	0.05858	0.266000	0.24541	0.252000	0.25951	0.061000	0.14366	0.488000	0.27723	0.491000	0.48974	CGA	ZNF267	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185947		0.393	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	-	0	44	0	G	NM_003414		31927357	1	tier1	-	no_errors	ENST00000300870	ensembl	human	known	74_37	missense	38.24	21	13	SNP	0.130	A	A	31927357	G	A	31927357	3	1	119	1	0	0	0	0	1	0	0	0	17854	1058	37	1	1801	1	ZNF267	16	31927357	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	29405375	31927357	58427396	64	31502											
TP53	7157	genome.wustl.edu	37	chr17	7577566	7577568	+	In_Frame_Del	DEL	TAC	TAC	-																															gccgcccatgcaggaactgtTacacatgtagttgtagtgga																								rs193920789		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	TAC	TAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:7577566_7577568delTAC	ENST00000269305.4	-	7	902_904	c.713_715delGTA	c.(712-717)tgtaac>tac	p.238_239CN>Y	TP53_ENST00000455263.2_In_Frame_Del_p.238_239CN>Y|TP53_ENST00000445888.2_In_Frame_Del_p.238_239CN>Y|TP53_ENST00000413465.2_In_Frame_Del_p.238_239CN>Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_In_Frame_Del_p.238_239CN>Y|TP53_ENST00000359597.4_In_Frame_Del_p.238_239CN>Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|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.C238Y(65)|p.C238F(46)|p.N239D(33)|p.N239fs*25(12)|p.C238S(9)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.M237_N239delMCN(4)|p.C238*(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.C238W(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.C238del(1)|p.C238fs*21(1)|p.C238C(1)|p.M237fs*1(1)|p.C145S(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)	CAGGAACTGTTACACATGTAGTT	0.576		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"	235	Substitution - Missense(173)|Insertion - Frameshift(18)|Deletion - In frame(15)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Nonsense(5)|Unknown(5)|Complex - frameshift(1)|Substitution - coding silent(1)|Insertion - In frame(1)	breast(27)|ovary(26)|haematopoietic_and_lymphoid_tissue(23)|large_intestine(20)|lung(20)|endometrium(18)|oesophagus(18)|upper_aerodigestive_tract(13)|central_nervous_system(12)|urinary_tract(11)|biliary_tract(8)|pancreas(8)|soft_tissue(7)|stomach(6)|liver(6)|bone(6)|skin(3)|prostate(2)|meninges(1)	GRCh37	CM034930	TP53	M																																				SO:0001651	inframe_deletion	0	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.713_715delGTA	17.37:g.7577566_7577568delTAC	ENSP00000269305:p.Cys238_Asn239delinsTyr		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.CN238in_frame_delY	ENST00000269305.4	37	c.715_713	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.576	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	65	0	TAC	NM_000546		7577568	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	60.00	32	48	DEL	1.000:0.999:1.000	-	-	7577568	TAC	-	7577566	7	5	119	1	0	1	0	1	0	0	0	0	16429	1754	61	0	575	0	TP53	17	7577566	In_Frame_Del	DEL	TAC	TCGA-LN-A4MQ-01A-11D-A28B-09		7577566	73617644	65	31503											
PMP22	5376	genome.wustl.edu	37	chr17	15134264	15134264	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcaagatcacatagatGacaccgctgagaagggccag	13	6	11	11	2	1	4	1	2	0	3	2	5	2	4	3	1	0	2	3	1	3	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:15134264G>T	ENST00000395938.2	-	5	647	c.453C>A	c.(451-453)gtC>gtA	p.V151V	PMP22_ENST00000494511.1_Missense_Mutation_p.H92N|PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000312280.3_Silent_p.V151V	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	151					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TCACATAGATGACACCGCTGA	0.582																																																	0													86	80	82					17																	15134264		2203	4300	6503	SO:0001819	synonymous_variant	0			D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.453C>A	17.37:g.15134264G>T			Q8WV01	Missense_Mutation	SNP	NULL	p.H92N	ENST00000395938.2	37	c.274	CCDS11168.1	17																																																																																			PMP22	-	NULL	ENSG00000109099		0.582	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP22	HGNC	protein_coding	OTTHUMT00000130378.1	-	0	33	0	G	NM_000304		15134264	-1	tier1	-	no_errors	ENST00000494511	ensembl	human	novel	74_37	missense	39.47	23	15	SNP	0.283	T	T	15134264	G	T	15134264	2	4	119	1	0	0	0	0	0	0	0	1	12178	1277	45	3		3	PMP22	17	15134264	Silent	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	7556698	15134264	66060946	66	31504											
KRTAP9-8	83901	genome.wustl.edu	37	chr17	39394711	39394711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccgcccagcctgctgtgaGaccacctgctgcaggaccac	7	6	11	17	1	0	1	0	1	0	1	0	3	0	2	6	1	5	3	6	1	0	0	rs373648251		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:39394711G>C	ENST00000254072.6	+	1	415	c.408G>C	c.(406-408)gaG>gaC	p.E136D		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	136	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGTGAGACCACCTGCT	0.612																																																	0													21	27	25					17																	39394711		2078	4270	6348	SO:0001583	missense	0			AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"Keratin associated proteins"	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.408G>C	17.37:g.39394711G>C	ENSP00000254072:p.Glu136Asp			Missense_Mutation	SNP	NULL	p.E136D	ENST00000254072.6	37	c.408	CCDS42334.1	17	.	.	.	.	.	.	.	.	.	.	.	12.28	1.891637	0.33442	.	.	ENSG00000187272	ENST00000254072	T	0.01246	5.11	2.61	-4.39	0.03611	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	D	0.57257	0.979	D	0.71414	0.973	T	0.36407	-0.9749	9	0.12430	T	0.62	.	5.6004	0.17351	0.6376:0.17:0.1924:0.0	.	136	Q9BYQ0	KRA98_HUMAN	D	136	ENSP00000254072:E136D	ENSP00000254072:E136D	E	+	3	2	KRTAP9-8	36648237	0.000000	0.05858	0.000000	0.03702	0.821000	0.46438	-3.062000	0.00623	-0.920000	0.03799	0.194000	0.17425	GAG	KRTAP9-8	-	NULL	ENSG00000187272		0.612	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-8	HGNC	protein_coding	OTTHUMT00000257712.1		0	75	0	G			39394711	1			no_errors	ENST00000254072	ensembl	human	known	74_37	missense	21.70	83	23	SNP	0.000	C	C	39394711	G	C	39394711	3	2	119	1	0	0	0	0	1	0	0	0	8604	933	33	5	410	5	KRTAP9-8	17	39394711	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	24260447	39394711	41800499	67	31505											
AARSD1	80755	genome.wustl.edu	37	chr17	41113275	41113275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccagaacctggcttcctgGatccaggggtgtctgggtga	7	9	15	10	0	1	2	0	1	1	1	3	4	3	3	4	5	1	1	4	5	1	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:41113275G>T	ENST00000427569.2	-	3	300	c.265C>A	c.(265-267)Cca>Aca	p.P89T	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.P263T|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.P263T|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.P172T|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.P202T|AARSD1_ENST00000416949.1_5'UTR	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	89					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TGGCTTCCTGGATCCAGGGGT	0.567																																																	0													164	145	152					17																	41113275		2203	4300	6503	SO:0001583	missense	0			BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.265C>A	17.37:g.41113275G>T	ENSP00000400870:p.Pro89Thr		B4DI73	Missense_Mutation	SNP	pfam_tRNA_SAD,pfam_CS_dom,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS_dom,pfscan_Ala-tRNA-synth_IIc_core	p.P263T	ENST00000427569.2	37	c.787	CCDS58552.1	17	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139022	0.37728	.	.	ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	4.18	4.18	0.49190	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.253694	0.33875	N	0.004480	T	0.79616	0.4476	L	0.52266	1.64	0.38198	D	0.940112	D;D;P;P;P	0.58268	0.982;0.973;0.947;0.947;0.741	P;P;P;P;P	0.58013	0.818;0.831;0.725;0.725;0.491	T	0.81024	-0.1120	9	0.36615	T	0.2	-11.4696	16.6939	0.85329	0.0:0.0:1.0:0.0	.	202;263;172;220;89	Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6	.;.;.;.;AASD1_HUMAN	T	202;263;263;89;172	ENSP00000353355:P202T;ENSP00000386621:P263T;ENSP00000409924:P263T;ENSP00000400870:P89T;ENSP00000386254:P172T	ENSP00000353355:P202T	P	-	1	0	AARSD1	38366801	1.000000	0.71417	0.901000	0.35422	0.020000	0.10135	3.944000	0.56629	2.157000	0.67596	0.542000	0.68232	CCA	PTGES3L-AARSD1	-	pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core	ENSG00000108825		0.567	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES3L-AARSD1	HGNC	protein_coding	OTTHUMT00000467729.1	-	0	65	0	G	NM_001261434		41113275	-1	tier1	-	no_errors	ENST00000409399	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.994	T	T	41113275	G	T	41113275	3	4	119	1	0	0	0	0	1	0	0	0	21	1174	41	3	1013	3	AARSD1	17	41113275	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	1718564	41113275	40081935	68	31506											
NXPH3	11248	genome.wustl.edu	37	chr17	47656098	47656098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccatggccaattccactctCctagggctgctggccccgcc	5	8	9	19	1	1	0	0	0	1	0	3	0	2	0	7	3	1	2	7	3	2	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:47656098C>T	ENST00000328741.5	+	2	557	c.195C>T	c.(193-195)ctC>ctT	p.L65L	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Silent_p.L65L	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	65	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)					ATTCCACTCTCCTAGGGCTGC	0.682																																																	0													31	35	33					17																	47656098		2202	4298	6500	SO:0001819	synonymous_variant	0			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.195C>T	17.37:g.47656098C>T			Q8NDC3|Q8TBF6|Q9ULR1	Silent	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.L65	ENST00000328741.5	37	c.195	CCDS11550.1	17																																																																																			NXPH3	-	pfam_NXPH/NXPE,pirsf_Neurexophilin	ENSG00000182575		0.682	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH3	HGNC	protein_coding	OTTHUMT00000365143.1	-	0	95	0	C			47656098	1	tier1	-	no_errors	ENST00000328741	ensembl	human	known	74_37	silent	24.73	69	23	SNP	0.790	T	T	47656098	C	T	47656098	2	4	119	1	0	0	0	0	0	0	0	1	10831	842	30	3		3	NXPH3	17	47656098	Silent	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	6542823	47656098	33539112	69	31507											
SDK2	54549	genome.wustl.edu	37	chr17	71375666	71375666	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacacgctcatccgtatctcGtaccgcctgtgcttgttcag	6	13	8	14	4	3	0	2	0	1	0	5	0	4	0	3	0	3	5	3	0	3	5	rs141328074		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:71375666G>C	ENST00000392650.3	-	35	4785	c.4785C>G	c.(4783-4785)taC>taG	p.Y1595*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.Y1576*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1595	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						TCCGTATCTCGTACCGCCTGT	0.652																																																	0													67	49	55					17																	71375666		2203	4300	6503	SO:0001587	stop_gained	0			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.4785C>G	17.37:g.71375666G>C	ENSP00000376421:p.Tyr1595*		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Y1595*	ENST00000392650.3	37	c.4785	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.027881	0.97216	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	.	.	.	4.61	-6.01	0.02199	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1319	0.72530	0.7637:0.0:0.2363:0.0	.	.	.	.	X	1219;1595;1576;752;1595	.	ENSP00000324967:Y1595X	Y	-	3	2	SDK2	68887261	0.111000	0.22076	0.346000	0.25655	0.914000	0.54420	-0.360000	0.07622	-0.966000	0.03587	-1.165000	0.01757	TAC	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.652	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	-	0	34	0	G	NM_019064		71375666	-1	tier1	-	no_errors	ENST00000392650	ensembl	human	known	74_37	nonsense	32.50	54	26	SNP	0.693	C	C	71375666	G	C	71375666	4	2	119	1	0	0	0	0	0	1	0	0	14014	1140	40	5	1777	5	SDK2	17	71375666	Nonsense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	23719568	71375666	9819544	70	31508											
RHBDF2	79651	genome.wustl.edu	37	chr17	74467981	74467981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagatgtgggcgatgttgtCgatccagggcaggaggccac	9	7	17	8	2	0	1	0	0	0	1	2	5	1	2	2	4	0	2	2	4	1	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:74467981C>T	ENST00000313080.4	-	19	2578	c.2305G>A	c.(2305-2307)Gac>Aac	p.D769N	RHBDF2_ENST00000591885.1_Missense_Mutation_p.D740N|RHBDF2_ENST00000389760.4_Missense_Mutation_p.D740N	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	769					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						GCGATGTTGTCGATCCAGGGC	0.622																																																	0													129	86	101					17																	74467981		2197	4293	6490	SO:0001583	missense	0			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.2305G>A	17.37:g.74467981C>T	ENSP00000322775:p.Asp769Asn		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.D769N	ENST00000313080.4	37	c.2305	CCDS32743.1	17	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874230	0.91664	.	.	ENSG00000129667	ENST00000313080;ENST00000389760	T;T	0.12879	2.64;2.64	4.52	4.52	0.55395	Peptidase S54, rhomboid domain (1);	0.055614	0.64402	D	0.000002	T	0.37812	0.1017	M	0.78344	2.41	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64321	0.924;0.914	T	0.36432	-0.9748	10	0.87932	D	0	-43.1995	17.4416	0.87566	0.0:1.0:0.0:0.0	.	769;740	Q6PJF5;Q6PJF5-2	RHDF2_HUMAN;.	N	769;740	ENSP00000322775:D769N;ENSP00000374410:D740N	ENSP00000322775:D769N	D	-	1	0	RHBDF2	71979576	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.582000	0.82546	2.376000	0.81061	0.467000	0.42956	GAC	RHBDF2	-	pfam_Peptidase_S54_rhomboid_dom	ENSG00000129667		0.622	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	-	0	44	0	C	NM_024599		74467981	-1	tier1	-	no_errors	ENST00000313080	ensembl	human	known	74_37	missense	27.96	67	26	SNP	1.000	T	T	74467981	C	T	74467981	3	4	119	1	0	0	0	0	1	0	0	0	13365	884	31	1	269	1	RHBDF2	17	74467981	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	3092315	74467981	6727229	71	31509											
ASPSCR1	79058	genome.wustl.edu	37	chr17	79974398	79974398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacttgggagccgaggagcCggcaggtgagtgtcagtggt	7	7	19	8	2	1	1	1	1	0	0	1	4	1	3	2	5	2	2	2	5	0	1	rs575908489	byFrequency	TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:79974398C>T	ENST00000306739.4	+	13	1497	c.1400C>T	c.(1399-1401)cCg>cTg	p.P467L	ASPSCR1_ENST00000582404.1_3'UTR|STRA13_ENST00000583767.1_5'Flank|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.P415L|ASPSCR1_ENST00000306729.7_Missense_Mutation_p.P561L	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	467					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCGAGGAGCCGGCAGGTGAG	0.721			T	TFE3	alveolar soft part sarcoma								C|||	2	0.000399361	0	0	5008	,	,		13777	0		0	False		,,,				2504	0.002							Dom	yes		17	17q25	79058	"alveolar soft part sarcoma chromosome region, candidate 1"		M	0													21	24	23					17																	79974398		2055	4064	6119	SO:0001583	missense	0			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1400C>T	17.37:g.79974398C>T	ENSP00000302176:p.Pro467Leu		A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	pfam_TUG/UBX4,pfam_UBX,pfscan_UBX	p.P561L	ENST00000306739.4	37	c.1682	CCDS11796.1	17	.	.	.	.	.	.	.	.	.	.	C	3.621	-0.077461	0.07184	.	.	ENSG00000169696	ENST00000306739;ENST00000306729	T;T	0.24723	1.84;1.88	3.76	3.76	0.43208	.	0.432776	0.23631	N	0.046123	T	0.44808	0.1311	M	0.75447	2.3	0.09310	N	1	D;D;D	0.71674	0.991;0.998;0.989	P;D;B	0.66497	0.53;0.944;0.32	T	0.21245	-1.0251	9	.	.	.	-6.4949	8.5412	0.33393	0.2304:0.7696:0.0:0.0	.	415;561;467	Q9BZE9-3;Q9BZE9-2;Q9BZE9	.;.;ASPC1_HUMAN	L	467;561	ENSP00000302176:P467L;ENSP00000306625:P561L	.	P	+	2	0	ASPSCR1	77567687	0.000000	0.05858	0.303000	0.25071	0.091000	0.18340	0.266000	0.18534	1.941000	0.56285	0.563000	0.77884	CCG	ASPSCR1	-	NULL	ENSG00000169696		0.721	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	HGNC	protein_coding	OTTHUMT00000441972.1	-	0	43	0	C	NM_024083		79974398	1	tier1	-	no_errors	ENST00000306729	ensembl	human	known	74_37	missense	30.77	36	16	SNP	0.009	T	T	79974398	C	T	79974398	3	4	119	1	0	0	0	0	1	0	0	0	1060	652	23	1	1450	1	ASPSCR1	17	79974398	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	5506417	79974398	1220812	72	31510											
MADCAM1	8174	genome.wustl.edu	37	chr19	504758	504758	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccagcgtccaaacctgcGggtgaccagctgcccgcggc	6	5	12	18	4	0	1	0	1	0	0	2	1	2	1	6	2	5	1	6	2	1	0			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:504758G>A	ENST00000215637.3	+	5	988	c.942G>A	c.(940-942)gcG>gcA	p.A314A	MADCAM1_ENST00000382683.4_Silent_p.A132A|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Silent_p.A227A|TPGS1_ENST00000359315.5_5'Flank|MADCAM1_ENST00000587541.1_Silent_p.A95A	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	314	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)		CCAAACCTGCGGGTGACCAGC	0.672																																																	0													48	55	53					19																	504758		2203	4299	6502	SO:0001819	synonymous_variant	0			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.942G>A	19.37:g.504758G>A			A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Silent	SNP	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom	p.A314	ENST00000215637.3	37	c.942	CCDS12028.1	19																																																																																			MADCAM1	-	NULL	ENSG00000099866		0.672	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	HGNC	protein_coding	OTTHUMT00000451884.1	-	0	47	0	G	NM_130760		504758	1	tier1	-	no_errors	ENST00000215637	ensembl	human	known	74_37	silent	8.96	60	6	SNP	0.000	A	A	504758	G	A	504758	2	1	119	1	0	0	0	0	0	0	0	1	9187	1103	39	1		1	MADCAM1	19	504758	Silent	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09		504758	58624225	73	31511											
ZNF77	58492	genome.wustl.edu	37	chr19	2934253	2934253	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	attcatacggtttctctccaGtgtgtgttctgacatgttct	6	18	8	9	1	4	1	1	1	3	0	6	1	5	1	1	1	1	3	1	1	1	5			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:2934253G>A	ENST00000314531.4	-	4	964	c.872C>T	c.(871-873)aCt>aTt	p.T291I		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCTCTCCAGTGTGTGTTCT	0.463																																																	0													164	148	154					19																	2934253		2203	4300	6503	SO:0001583	missense	0			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.872C>T	19.37:g.2934253G>A	ENSP00000319053:p.Thr291Ile		Q86XJ3|Q9NPP0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T291I	ENST00000314531.4	37	c.872	CCDS12099.1	19	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485568	0.63962	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.25749	1.78	2.67	-3.08	0.05347	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29524	0.0736	M	0.73753	2.245	0.22675	N	0.998864	D	0.54397	0.966	P	0.46208	0.507	T	0.26189	-1.0110	9	0.59425	D	0.04	.	7.4319	0.27132	0.1093:0.4667:0.424:0.0	.	291	Q15935	ZNF77_HUMAN	I	85;291	ENSP00000319053:T291I	ENSP00000319053:T291I	T	-	2	0	ZNF77	2885253	0.000000	0.05858	0.002000	0.10522	0.969000	0.65631	-1.062000	0.03468	-0.463000	0.06973	0.491000	0.48974	ACT	ZNF77	-	pfscan_Znf_C2H2	ENSG00000175691		0.463	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	-	0	75	0	G	NM_021217		2934253	-1	tier1	-	no_errors	ENST00000314531	ensembl	human	known	74_37	missense	39.02	50	32	SNP	0.891	A	A	2934253	G	A	2934253	3	1	119	1	0	0	0	0	1	0	0	0	18190	1029	36	3	769	3	ZNF77	19	2934253	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	2429495	2934253	56194730	74	31512											
OR10H1	26539	genome.wustl.edu	37	chr19	15918306	15918306	+	Missense_Mutation	SNP	A	A	G	1	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	ccaacttcaacagaggtggcAcatggcaagcaaaatggtgg	14	6	12	9	0	1	1	1	0	0	1	1	1	1	1	1	5	3	3	1	5	5	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:15918306A>G	ENST00000334920.2	-	1	630	c.542T>C	c.(541-543)gTg>gCg	p.V181A		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CAGAGGTGGCACATGGCAAGC	0.582																																																	0													193	151	166					19																	15918306		2203	4300	6503	SO:0001583	missense	0			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.542T>C	19.37:g.15918306A>G	ENSP00000335596:p.Val181Ala		Q6IFQ2|Q96R59	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V181A	ENST00000334920.2	37	c.542	CCDS12335.1	19	.	.	.	.	.	.	.	.	.	.	.	4.394	0.072742	0.08436	.	.	ENSG00000186723	ENST00000334920	T	0.38077	1.16	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.303860	0.23429	N	0.048273	T	0.35278	0.0926	L	0.56124	1.755	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.35674	-0.9779	10	0.87932	D	0	.	11.9541	0.52970	1.0:0.0:0.0:0.0	.	181	Q9Y4A9	O10H1_HUMAN	A	181	ENSP00000335596:V181A	ENSP00000335596:V181A	V	-	2	0	OR10H1	15779306	0.001000	0.12720	0.535000	0.28026	0.074000	0.17049	0.884000	0.28214	1.714000	0.51371	0.523000	0.50628	GTG	OR10H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000186723		0.582	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	HGNC	protein_coding	OTTHUMT00000460364.1	-	0	138	0	A			15918306	-1	tier1	-	no_errors	ENST00000334920	ensembl	human	known	74_37	missense	7.10	170	13	SNP	0.020	G	G	15918306	A	G	15918306	3	3	119	1	0	0	0	0	1	0	0	0	10944	159	6	4	418	4	OR10H1	19	15918306	Missense_Mutation	SNP	A	TCGA-LN-A4MQ-01A-11D-A28B-09	12984053	15918306	43210677	75	31513											
ZNF431	170959	genome.wustl.edu	37	chr19	21366096	21366096	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttttaaccagtcttcaacCcttagtacacataagttcat	12	14	4	11	0	3	0	2	0	1	0	3	0	3	0	2	0	3	3	2	0	5	7			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:21366096C>T	ENST00000311048.7	+	5	1134	c.990C>T	c.(988-990)acC>acT	p.T330T	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	330					cell differentiation (GO:0030154)|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)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGTCTTCAACCCTTAGTACAC	0.383																																																	0													58	61	60					19																	21366096		2203	4300	6503	SO:0001819	synonymous_variant	0			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"Zinc fingers, C2H2-type", "-"	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.990C>T	19.37:g.21366096C>T			A8KAK7|Q8IWC4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T330	ENST00000311048.7	37	c.990	CCDS32979.1	19																																																																																			ZNF431	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196705		0.383	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	HGNC	protein_coding	OTTHUMT00000463943.1	-	0	58	0	C	XM_086098		21366096	1	tier1	-	no_errors	ENST00000311048	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.010	T	T	21366096	C	T	21366096	2	4	119	1	0	0	0	0	0	0	0	1	17953	610	22	3		3	ZNF431	19	21366096	Silent	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	5447790	21366096	37762887	76	31514											
SPTBN4	57731	genome.wustl.edu	37	chr19	41071628	41071628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcggaaaagtgggaccGccattgggagtggctgcagc	8	7	18	8	2	0	0	0	0	0	0	1	3	0	3	2	5	2	2	2	5	2	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:41071628G>A	ENST00000352632.3	+	29	6202	c.6116G>A	c.(6115-6117)cGc>cAc	p.R2039H	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R2039H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R2039H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R782H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2039					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)			AAGTGGGACCGCCATTGGGAG	0.637																																																	0													51	45	47					19																	41071628		2150	4236	6386	SO:0001583	missense	0			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.6116G>A	19.37:g.41071628G>A	ENSP00000263373:p.Arg2039His		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R2039H	ENST00000352632.3	37	c.6116	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037360	0.75617	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025	T;T;T	0.53206	0.63;0.63;0.63	4.58	2.33	0.28932	.	0.209745	0.31199	U	0.008070	T	0.46171	0.1379	L	0.27053	0.805	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.61201	0.885;0.778	T	0.39231	-0.9624	10	0.49607	T	0.09	.	7.176	0.25744	0.3068:0.0:0.6932:0.0	.	782;2039	C9JY79;Q9H254	.;SPTN4_HUMAN	H	2039;2039;2039;782	ENSP00000263373:R2039H;ENSP00000340345:R2039H;ENSP00000375879:R782H	ENSP00000340345:R2039H	R	+	2	0	SPTBN4	45763468	0.999000	0.42202	0.993000	0.49108	0.988000	0.76386	3.812000	0.55628	1.147000	0.42369	0.511000	0.50034	CGC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.637	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0	94	0	G			41071628	1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	5.13	111	6	SNP	0.995	A	A	41071628	G	A	41071628	3	1	119	1	0	0	0	0	1	0	0	0	15168	1087	38	1	6320	1	SPTBN4	19	41071628	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	19705532	41071628	18057355	77	31515											
PPP1R13L	10848	genome.wustl.edu	37	chr19	45900156	45900156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtagagcggggtgcgcggcGacgacggccgtcccttgggg	4	5	21	11	7	0	1	0	0	0	1	1	3	1	1	2	7	2	1	2	7	1	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:45900156G>A	ENST00000418234.2	-	4	437	c.359C>T	c.(358-360)tCg>tTg	p.S120L	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.S120L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	120	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTGCGCGGCGACGACGGCCG	0.736																																					Pancreas(61;1447 1663 31419 50578)												0													14	19	17					19																	45900156		2172	4244	6416	SO:0001583	missense	0			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.359C>T	19.37:g.45900156G>A	ENSP00000403902:p.Ser120Leu		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.S120L	ENST00000418234.2	37	c.359	CCDS33050.1	19	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382382	0.42207	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.59638	0.25;0.25	5.02	3.99	0.46301	.	0.532890	0.19954	N	0.102352	T	0.35913	0.0948	N	0.24115	0.695	0.26787	N	0.969486	B;B	0.20459	0.045;0.004	B;B	0.13407	0.009;0.002	T	0.22452	-1.0216	10	0.05436	T	0.98	.	9.5117	0.39080	0.099:0.0:0.901:0.0	.	120;120	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	L	120	ENSP00000403902:S120L;ENSP00000354218:S120L	ENSP00000354218:S120L	S	-	2	0	PPP1R13L	50591996	0.995000	0.38212	0.100000	0.21137	0.021000	0.10359	5.454000	0.66651	1.242000	0.43836	0.462000	0.41574	TCG	PPP1R13L	-	NULL	ENSG00000104881		0.736	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	-	0	20	0	G	NM_006663		45900156	-1	tier1	-	no_errors	ENST00000360957	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.510	A	A	45900156	G	A	45900156	3	1	119	1	0	0	0	0	1	0	0	0	12400	1059	37	1	2167	1	PPP1R13L	19	45900156	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	4828528	45900156	13228827	78	31516											
ZNF701	55762	genome.wustl.edu	37	chr19	53086053	53086053	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacagtataaatgtgatgtAtgcggcaaggactttcatca	15	11	9	6	1	2	1	2	1	0	0	2	2	2	2	0	2	2	3	0	2	6	4	rs183892700	byFrequency	TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:53086053A>T	ENST00000540331.1	+	5	1164	c.939A>T	c.(937-939)gtA>gtT	p.V313V	ZNF701_ENST00000301093.2_Silent_p.V313V|ZNF701_ENST00000391785.3_Silent_p.V247V|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AATGTGATGTATGCGGCAAGG	0.408																																					NSCLC(89;451 1475 9611 20673 52284)												0													94	90	91					19																	53086053		2203	4300	6503	SO:0001819	synonymous_variant	0			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.939A>T	19.37:g.53086053A>T			A2RRM8|B9EGF2|F5GZM6|Q66K42	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V313	ENST00000540331.1	37	c.939	CCDS54311.1	19																																																																																			ZNF701	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167562		0.408	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF701	HGNC	protein_coding	OTTHUMT00000463467.1	-	0	74	0	A	NM_018260		53086053	1	tier1	-	no_errors	ENST00000301093	ensembl	human	known	74_37	silent	14.41	100	17	SNP	0.001	T	T	53086053	A	T	53086053	2	4	119	1	0	0	0	0	0	0	0	1	18153	436	16	5		5	ZNF701	19	53086053	Silent	SNP	A	TCGA-LN-A4MQ-01A-11D-A28B-09	7185897	53086053	6042930	79	31517											
ZNF415	55786	genome.wustl.edu	37	chr19	53619598	53619598	+	Missense_Mutation	SNP	A	A	G	1	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	ggttcctgtagttctccaacAtcacatccctgtataaagtc	10	13	6	12	0	2	0	1	0	1	0	6	0	4	0	3	1	1	4	3	1	5	5			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:53619598A>G	ENST00000500065.4	-	3	437	c.104T>C	c.(103-105)aTg>aCg	p.M35T	ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000597503.1_Missense_Mutation_p.M35T|ZNF415_ENST00000243643.4_Missense_Mutation_p.M35T|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000600574.1_Missense_Mutation_p.M35T|ZNF415_ENST00000599261.1_Missense_Mutation_p.M35T|ZNF415_ENST00000595193.1_Missense_Mutation_p.M35T|ZNF415_ENST00000595813.1_Missense_Mutation_p.M35T|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000455735.2_Silent_p.D14D|ZNF415_ENST00000597748.1_Missense_Mutation_p.M35T|ZNF415_ENST00000594011.1_Missense_Mutation_p.M35T|ZNF415_ENST00000448501.1_Silent_p.D14D|ZNF415_ENST00000421033.1_Silent_p.D14D|ZNF415_ENST00000440291.1_5'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					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)		GTTCTCCAACATCACATCCCT	0.453																																																	0													122	121	121					19																	53619598		2203	4300	6503	SO:0001583	missense	0			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.104T>C	19.37:g.53619598A>G	ENSP00000439435:p.Met35Thr		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M35T	ENST00000500065.4	37	c.104	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946443	0.34377	.	.	ENSG00000170954	ENST00000243643;ENST00000500065	T;T	0.03152	4.03;4.03	2.95	2.95	0.34219	.	.	.	.	.	T	0.11537	0.0281	L	0.58302	1.8	0.80722	D	1	D;D	0.76494	0.999;0.96	D;P	0.78314	0.991;0.888	T	0.02015	-1.1229	9	0.49607	T	0.09	.	7.611	0.28131	1.0:0.0:0.0:0.0	.	35;35	F5H287;Q09FC8-5	.;.	T	35	ENSP00000243643:M35T;ENSP00000439435:M35T	ENSP00000243643:M35T	M	-	2	0	ZNF415	58311410	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	4.934000	0.63491	1.360000	0.45960	0.379000	0.24179	ATG	ZNF415	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000170954		0.453	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	-	0	69	0	A	NM_018355		53619598	-1	tier1	-	no_errors	ENST00000243643	ensembl	human	known	74_37	missense	16.19	88	17	SNP	0.997	G	G	53619598	A	G	53619598	3	3	119	1	0	0	0	0	1	0	0	0	17940	217	8	4	1571	4	ZNF415	19	53619598	Missense_Mutation	SNP	A	TCGA-LN-A4MQ-01A-11D-A28B-09	533545	53619598	5509385	80	31518											
NLRP11	204801	genome.wustl.edu	37	chr19	56300637	56300637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tgggatgtctcaaaccaccaCatagcagctgcattcctgca	11	9	8	13	0	1	0	1	0	1	0	3	1	2	1	3	1	5	4	3	1	2	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:56300637C>T	ENST00000589093.1	-	8	2735	c.2642G>A	c.(2641-2643)tGt>tAt	p.C881Y	NLRP11_ENST00000443188.1_Missense_Mutation_p.C881Y|NLRP11_ENST00000592953.1_Missense_Mutation_p.C782Y|NLRP11_ENST00000589824.2_Missense_Mutation_p.C827Y|NLRP11_ENST00000360133.3_Missense_Mutation_p.C827Y			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	881							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)		CAAACCACCACATAGCAGCTG	0.438																																																	0													140	136	138					19																	56300637		2203	4300	6503	SO:0001583	missense	0			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.2642G>A	19.37:g.56300637C>T	ENSP00000466285:p.Cys881Tyr		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.C881Y	ENST00000589093.1	37	c.2642	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960545	0.34565	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.44083	0.93;0.93	2.7	2.7	0.31948	.	.	.	.	.	T	0.70298	0.3208	H	0.94423	3.535	0.09310	N	1	D;D	0.76494	0.997;0.999	D;D	0.79108	0.974;0.992	T	0.59048	-0.7527	9	0.87932	D	0	.	9.0456	0.36345	0.0:1.0:0.0:0.0	.	881;827	P59045;P59045-2	NAL11_HUMAN;.	Y	881;827	ENSP00000409898:C881Y;ENSP00000353251:C827Y	ENSP00000353251:C827Y	C	-	2	0	NLRP11	60992449	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	1.122000	0.31295	1.808000	0.52836	0.543000	0.68304	TGT	NLRP11	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000179873		0.438	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	-	0	68	0	C	NM_145007		56300637	-1	tier1	-	no_errors	ENST00000443188	ensembl	human	known	74_37	missense	30.38	55	24	SNP	0.005	T	T	56300637	C	T	56300637	3	4	119	1	0	0	0	0	1	0	0	0	10512	478	17	3	471	3	NLRP11	19	56300637	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	2681039	56300637	2828346	81	31519											
ProSAPiP1	9762	genome.wustl.edu	37	chr20	3147483	3147483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacgttgccacagacatcGgtgtggtcactgccccgcag	8	7	11	15	3	1	1	1	0	0	1	2	1	1	1	4	2	2	2	4	2	0	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr20:3147483G>A	ENST00000329152.3	-	1	1724	c.327C>T	c.(325-327)acC>acT	p.T109T	LZTS3_ENST00000360342.3_Silent_p.T109T|LZTS3_ENST00000337576.5_Silent_p.T109T			O60299	LZTS3_HUMAN		109						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											CACAGACATCGGTGTGGTCAC	0.657																																																	0													81	64	70					20																	3147483		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000329152.3:c.327C>T	20.37:g.3147483G>A			A2A2Q7|D3DVX6|Q8IXX8	Silent	SNP	NULL	p.T109	ENST00000329152.3	37	c.327	CCDS13049.1	20																																																																																			LZTS3	-	NULL	ENSG00000088899		0.657	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS3	Uniprot_gn	protein_coding	OTTHUMT00000077715.2	-	0	78	0	G			3147483	-1	tier1	-	no_errors	ENST00000329152	ensembl	human	known	74_37	silent	28.41	63	25	SNP	0.057	A	A	3147483	G	A	3147483	2	1	119	1	0	0	0	0	0	0	0	1	12915	1103	39	1		1	ProSAPiP1	20	3147483	Silent	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09		3147483	59878037	82	31520											
SNAP25	6616	genome.wustl.edu	37	chr20	10277646	10277646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggccagccagcctgctCgtgtagtggacgaacgggag	7	7	17	10	3	0	0	0	0	0	0	1	3	0	2	3	4	4	2	3	4	2	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr20:10277646C>A	ENST00000254976.2	+	6	566	c.355C>A	c.(355-357)Cgt>Agt	p.R119S	SNAP25_ENST00000495883.1_3'UTR|SNAP25_ENST00000304886.2_Missense_Mutation_p.R119S|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	119					energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.R119C(1)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	CCAGCCTGCTCGTGTAGTGGA	0.517																																																	1	Substitution - Missense(1)	large_intestine(1)											76	71	73					20																	10277646		2203	4300	6503	SO:0001583	missense	0				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"resistance to inhibitors of cholinesterase 4 homolog"	600322	"synaptosomal-associated protein, 25kD"	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.355C>A	20.37:g.10277646C>A	ENSP00000254976:p.Arg119Ser		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R119S	ENST00000254976.2	37	c.355	CCDS13110.1	20	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741222	0.49151	.	.	ENSG00000132639	ENST00000254976;ENST00000304886	.	.	.	5.86	5.86	0.93980	SNAP-25 (1);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.79011	2.435	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72625	0.956;0.978	T	0.72798	-0.4184	9	0.15952	T	0.53	-2.2047	20.1996	0.98256	0.0:1.0:0.0:0.0	.	119;119	P60880-2;P60880	.;SNP25_HUMAN	S	119	.	ENSP00000254976:R119S	R	+	1	0	SNAP25	10225646	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.776000	0.95493	0.650000	0.86243	CGT	SNAP25	-	pfam_SNAP-25	ENSG00000132639		0.517	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	HGNC	protein_coding	OTTHUMT00000077976.3		0	48	0	C	NM_130811		10277646	1			no_errors	ENST00000254976	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	A	A	10277646	C	A	10277646	3	1	119	1	0	0	0	0	1	0	0	0	14875	884	31	2	495	2	SNAP25	20	10277646	Missense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	7130163	10277646	52747874	83	31521											
TPX2	22974	genome.wustl.edu	37	chr20	30385276	30385276	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccaaacaccgtcatctctCaggagccctttgttcccaag	9	10	7	15	1	3	0	2	0	1	0	6	1	5	1	4	1	2	1	4	1	2	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr20:30385276C>T	ENST00000300403.6	+	16	2431	c.1903C>T	c.(1903-1905)Cag>Tag	p.Q635*	TPX2_ENST00000340513.4_Nonsense_Mutation_p.Q671*	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	635					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.Q635E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CGTCATCTCTCAGGAGCCCTT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											170	175	173					20																	30385276		2203	4300	6503	SO:0001587	stop_gained	0			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1903C>T	20.37:g.30385276C>T	ENSP00000300403:p.Gln635*		Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Nonsense_Mutation	SNP	pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C	p.Q671*	ENST00000300403.6	37	c.2011	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	C	43	10.027826	0.99320	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	.	.	.	5.93	5.93	0.95920	.	0.056612	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.0415	19.3291	0.94278	0.0:1.0:0.0:0.0	.	.	.	.	X	635;671	.	ENSP00000300403:Q635X	Q	+	1	0	TPX2	29848937	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.255000	0.65462	2.814000	0.96858	0.655000	0.94253	CAG	TPX2	-	NULL	ENSG00000088325		0.458	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2		0	32	0	C			30385276	1			no_errors	ENST00000340513	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	T	T	30385276	C	T	30385276	4	4	119	1	0	0	0	0	0	1	0	0	16480	827	29	3	1957	3	TPX2	20	30385276	Nonsense_Mutation	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	20107630	30385276	32640244	84	31522											
EPB41L1	2036	genome.wustl.edu	37	chr20	34797649	34797649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagcgccttcgaagacttCtcccgcagcctgcctgagct	6	8	11	16	3	1	2	0	1	1	1	3	3	1	2	4	1	4	3	4	1	1	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr20:34797649C>T	ENST00000338074.2	+	15	2069	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	EPB41L1_ENST00000202028.5_Silent_p.F562F|EPB41L1_ENST00000373950.2_Silent_p.F527F|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000441639.1_Silent_p.F562F|EPB41L1_ENST00000373941.1_Silent_p.F636F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	636					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)					TCGAAGACTTCTCCCGCAGCC	0.617																																																	0													73	61	65					20																	34797649		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1908C>T	20.37:g.34797649C>T			O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.F636	ENST00000338074.2	37	c.1908	CCDS13271.1	20																																																																																			EPB41L1	-	pirsf_Band_41_protein	ENSG00000088367		0.617	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	-	0	39	0	C	NM_012156		34797649	1	tier1	-	no_errors	ENST00000338074	ensembl	human	known	74_37	silent	44.68	26	21	SNP	1.000	T	T	34797649	C	T	34797649	2	4	119	1	0	0	0	0	0	0	0	1	5168	912	32	3		3	EPB41L1	20	34797649	Silent	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	4412373	34797649	28227871	85	31523											
PREX1	57580	genome.wustl.edu	37	chr20	47364399	47364399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcggccacgttctgccGgatgcgatgcaggaatgcct	7	9	14	11	4	1	1	0	1	1	0	2	4	1	3	3	3	4	2	3	3	1	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr20:47364399G>A	ENST00000371941.3	-	2	260	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	PREX1_ENST00000396220.1_Missense_Mutation_p.R80W	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	80	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)			ACGTTCTGCCGGATGCGATGC	0.592																																																	0													98	87	91					20																	47364399		2203	4300	6503	SO:0001583	missense	0			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.238C>T	20.37:g.47364399G>A	ENSP00000361009:p.Arg80Trp		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R80W	ENST00000371941.3	37	c.238	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824252	0.71143	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.66280	-0.2;-0.2	4.58	4.58	0.56647	Dbl homology (DH) domain (5);	0.000000	0.45126	U	0.000387	T	0.78181	0.4243	M	0.80332	2.49	0.58432	D	0.999996	D	0.89917	1.0	D	0.71414	0.973	T	0.81236	-0.1024	10	0.72032	D	0.01	.	13.0948	0.59187	0.0:0.0:0.839:0.161	.	80	Q8TCU6	PREX1_HUMAN	W	80	ENSP00000361009:R80W;ENSP00000379522:R80W	ENSP00000361009:R80W	R	-	1	2	PREX1	46797806	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.258000	0.43249	2.377000	0.81083	0.448000	0.29417	CGG	PREX1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000124126		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	-	0	26	0	G	NM_020820		47364399	-1	tier1	-	no_errors	ENST00000371941	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A	A	47364399	G	A	47364399	3	1	119	1	0	0	0	0	1	0	0	0	12518	1115	39	1	4897	1	PREX1	20	47364399	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	12566750	47364399	15661121	86	31524											
PTGIS	5740	genome.wustl.edu	37	chr20	48130860	48130860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatactctcgagctctccgcGgacagcagccagggcttcag	8	7	12	14	3	3	0	1	0	2	0	5	3	3	1	2	2	4	3	2	2	1	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr20:48130860G>A	ENST00000244043.4	-	7	957	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	310					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	AGCTCTCCGCGGACAGCAGCC	0.587																																																	0													56	52	53					20																	48130860		2203	4300	6503	SO:0001583	missense	0				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.928C>T	20.37:g.48130860G>A	ENSP00000244043:p.Arg310Cys		Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.R310C	ENST00000244043.4	37	c.928	CCDS13419.1	20	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202544	0.58234	.	.	ENSG00000124212	ENST00000244043	T	0.01705	4.68	4.1	3.15	0.36227	.	0.577942	0.15393	N	0.264738	T	0.02455	0.0075	M	0.72894	2.215	0.27370	N	0.955721	P	0.41080	0.737	B	0.30105	0.111	T	0.37731	-0.9693	10	0.48119	T	0.1	-2.1553	9.6497	0.39890	0.105:0.0:0.895:0.0	.	310	Q16647	PTGIS_HUMAN	C	310	ENSP00000244043:R310C	ENSP00000244043:R310C	R	-	1	0	PTGIS	47564267	0.718000	0.27976	0.185000	0.23176	0.212000	0.24457	1.708000	0.37899	0.843000	0.35070	0.561000	0.74099	CGC	PTGIS	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000124212		0.587	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGIS	HGNC	protein_coding	OTTHUMT00000080496.2	-	0	29	0	G			48130860	-1	tier1	-	no_errors	ENST00000244043	ensembl	human	known	74_37	missense	54.55	15	18	SNP	0.179	A	A	48130860	G	A	48130860	3	1	119	1	0	0	0	0	1	0	0	0	12795	1116	39	1	590	1	PTGIS	20	48130860	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	766461	48130860	14894660	87	31525											
RCAN1	1827	genome.wustl.edu	37	chr21	35893948	35893948	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gccaggtgtgagcttcctatGtgtaaggtctgaggagagaa	10	10	15	6	0	1	3	0	2	1	1	2	5	2	4	2	3	1	2	2	3	3	3			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr21:35893948G>T	ENST00000313806.4	-	3	565	c.435C>A	c.(433-435)caC>caA	p.H145Q	RCAN1_ENST00000443408.2_Missense_Mutation_p.H10Q|RCAN1_ENST00000381135.3_Missense_Mutation_p.H135Q|RCAN1_ENST00000487990.1_Missense_Mutation_p.H10Q|RCAN1_ENST00000381132.2_Missense_Mutation_p.H90Q|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000492600.1_Missense_Mutation_p.H90Q|RCAN1_ENST00000399272.1_Missense_Mutation_p.H64Q|RCAN1_ENST00000482533.1_Missense_Mutation_p.H10Q|RCAN1_ENST00000481448.1_Missense_Mutation_p.H135Q	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	145					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGCTTCCTATGTGTAAGGTCT	0.547																																																	0													72	75	74					21																	35893948		2203	4300	6503	SO:0001583	missense	0				CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"Down syndrome critical region gene 1"	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.435C>A	21.37:g.35893948G>T	ENSP00000320768:p.His145Gln		D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	pfam_Calcipressin	p.H145Q	ENST00000313806.4	37	c.435	CCDS13637.1	21	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122582	0.37436	.	.	ENSG00000159200	ENST00000487990;ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000482533;ENST00000381135;ENST00000443408	.	.	.	5.42	4.54	0.55810	.	0.101512	0.64402	D	0.000001	T	0.63792	0.2541	L	0.42245	1.32	0.58432	D	0.999998	D;B;D;P	0.89917	1.0;0.012;0.997;0.535	D;B;D;B	0.91635	0.999;0.03;0.986;0.2	T	0.58956	-0.7544	9	0.12430	T	0.62	-8.3332	10.7076	0.45965	0.154:0.0:0.846:0.0	.	90;145;64;90	B7Z1F0;P53805;P53805-3;Q6FGP2	.;RCAN1_HUMAN;.;.	Q	10;145;90;64;135;10;135;10	.	ENSP00000320768:H145Q	H	-	3	2	RCAN1	34815818	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	3.773000	0.55333	1.283000	0.44513	0.655000	0.94253	CAC	RCAN1	-	pfam_Calcipressin	ENSG00000159200		0.547	RCAN1-001	KNOWN	basic|CCDS	protein_coding	RCAN1	HGNC	protein_coding	OTTHUMT00000194142.1	-	0	45	0	G			35893948	-1	tier1	-	no_errors	ENST00000313806	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	35893948	G	T	35893948	3	4	119	1	0	0	0	0	1	0	0	0	13213	1368	48	3	331	3	RCAN1	21	35893948	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09		35893948	12235947	88	31526											
SHANK3	85358	genome.wustl.edu	37	chr22	51117786	51117786	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggagcacctgctgttctAtggggcagacatgggggccc	6	9	15	11	0	2	1	0	0	2	1	2	2	2	2	2	5	2	4	2	5	1	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr22:51117786A>C	ENST00000414786.2	+	7	1042	c.815A>C	c.(814-816)tAt>tCt	p.Y272S	SHANK3_ENST00000262795.3_Missense_Mutation_p.Y272S|SHANK3_ENST00000445220.2_Missense_Mutation_p.Y272S			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	272					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)		CTGCTGTTCTATGGGGCAGAC	0.642																																																	0													41	50	47					22																	51117786		2185	4289	6474	SO:0001583	missense	0			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.815A>C	22.37:g.51117786A>C	ENSP00000464552:p.Tyr272Ser		D7UT47|Q8TET3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.Y272S	ENST00000414786.2	37	c.815		22	.	.	.	.	.	.	.	.	.	.	A	16.41	3.116536	0.56505	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.63744	-0.06;-0.06	5.34	5.34	0.76211	.	.	.	.	.	T	0.66723	0.2818	N	0.17872	0.535	0.33854	D	0.632921	D	0.76494	0.999	D	0.83275	0.996	T	0.76702	-0.2862	9	0.72032	D	0.01	.	13.2881	0.60255	1.0:0.0:0.0:0.0	.	272	F2Z3L0	.	S	272	ENSP00000442518:Y272S;ENSP00000446078:Y272S	ENSP00000442518:Y272S	Y	+	2	0	SHANK3	49464652	1.000000	0.71417	0.925000	0.36789	0.220000	0.24768	7.244000	0.78228	2.023000	0.59567	0.529000	0.55759	TAT	SHANK3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000251322		0.642	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	-	0	65	0	A	NM_001080420		51117786	1	tier1	-	no_errors	ENST00000262795	ensembl	human	known	74_37	missense	30.77	71	32	SNP	0.998	C	C	51117786	A	C	51117786	3	2	119	1	0	0	0	0	1	0	0	0	14311	449	16	4	841	4	SHANK3	22	51117786	Missense_Mutation	SNP	A	TCGA-LN-A4MQ-01A-11D-A28B-09		51117786	186780	89	31527											
PPP2R3B	28227	genome.wustl.edu	37	chrX	307473	307473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggaactcggacgcctccTtcaggaacgacagccccggg	9	5	13	14	4	1	0	1	0	0	0	3	4	2	3	4	4	3	0	4	4	2	1			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chrX:307473T>C	ENST00000390665.3	-	5	773	c.755A>G	c.(754-756)aAg>aGg	p.K252R		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	252					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(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)				GGACGCCTCCTTCAGGAACGA	0.706																																																	0													56	68	64					X																	307473		2079	4210	6289	SO:0001583	missense	0			AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.755A>G	X.37:g.307473T>C	ENSP00000375080:p.Lys252Arg		Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.K252R	ENST00000390665.3	37	c.755	CCDS14104.1	X	.	.	.	.	.	.	.	.	.	.	T	9.076	0.998185	0.19043	.	.	ENSG00000167393	ENST00000390665	T	0.31510	1.49	0.789	0.789	0.18607	.	0.237693	0.33591	U	0.004744	T	0.16981	0.0408	N	0.25890	0.77	0.09310	N	1	B;B	0.22746	0.074;0.002	B;B	0.28553	0.091;0.008	T	0.10543	-1.0625	10	0.36615	T	0.2	.	2.8139	0.05450	0.0:0.3314:0.0:0.6686	.	91;252	B4DE79;Q9Y5P8	.;P2R3B_HUMAN	R	252	ENSP00000375080:K252R	ENSP00000375080:K252R	K	-	2	0	PPP2R3B	227473	1.000000	0.71417	0.994000	0.49952	0.523000	0.34469	2.209000	0.42806	0.589000	0.29677	0.097000	0.15509	AAG	PPP2R3B	-	NULL	ENSG00000167393		0.706	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3B	HGNC	protein_coding	OTTHUMT00000055577.2	-	0	77	0	T	NM_013239		307473	-1	tier1	-	no_errors	ENST00000390665	ensembl	human	known	74_37	missense	56.79	35	46	SNP	1.000	C	C	307473	T	C	307473	3	2	119	1	0	0	0	0	1	0	0	0	12431	1609	56	4	1008	4	PPP2R3B	23	307473	Missense_Mutation	SNP	T	TCGA-LN-A4MQ-01A-11D-A28B-09		307473	154963087	90	31528											
DGKK	139189	genome.wustl.edu	37	chrX	50163452	50163452	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgttaatccattcttcCatgtctttccggttgggtgc	6	17	9	9	1	2	1	0	1	2	0	5	1	5	1	3	2	1	2	3	2	1	5			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chrX:50163452C>A	ENST00000376025.2	-	0	950							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCCATTCTTCCATGTCTTTCC	0.363																																																	0													257	222	233					X																	50163452		1837	4088	5925			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50163452C>A			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.363	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	-	0	28	0	C	NM_001013742		50163452	-1	tier1	-	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	15.22	39	7	SNP	1.000	A	A	50163452	C	A	50163452	1	1	119	0	1	0	0	0	0	0	0	0	4486	594	21	3		3	DGKK	23	50163452	RNA	SNP	C	TCGA-LN-A4MQ-01A-11D-A28B-09	49855979	50163452	105107108	91	31529											
ZCCHC18	644353	genome.wustl.edu	37	chrX	103359997	103359997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctggagaacacagtgatGcttctgagccacagtaagga	12	8	11	10	0	1	3	0	2	1	1	2	5	2	4	2	2	3	2	2	2	2	2			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chrX:103359997G>A	ENST00000537356.3	+	2	2609	c.1195G>A	c.(1195-1197)Gct>Act	p.A399T	ZCCHC18_ENST00000422784.1_3'UTR|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	399							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										ACACAGTGATGCTTCTGAGCC	0.493																																																	0													55	46	48					X																	103359997		692	1591	2283	SO:0001583	missense	0			AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	32459	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7B"		"zinc finger, CCHC domain containing 12 pseudogene 1"				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.1195G>A	X.37:g.103359997G>A	ENSP00000473824:p.Ala399Thr			Missense_Mutation	SNP	superfamily_Znf_CCHC	p.A399T	ENST00000537356.3	37	c.1195		X																																																																																			ZCCHC18	-	NULL	ENSG00000166707		0.493	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	ZCCHC18	HGNC	protein_coding	OTTHUMT00000471686.1	-	0	29	0	G	NM_001143978		103359997	1	tier1	-	no_errors	ENST00000537356	ensembl	human	putative	74_37	missense	9.52	38	4	SNP	0.000	A	A	103359997	G	A	103359997	3	1	119	1	0	0	0	0	1	0	0	0	17634	1319	46	3	1197	3	ZCCHC18	23	103359997	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	53196545	103359997	51910563	92	31530											
MTMR1	8776	genome.wustl.edu	37	chrX	149898659	149898659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaaacctcaacaaacatGcatttcctctttctaacgga	14	12	4	11	1	3	1	1	1	2	0	4	2	4	2	2	1	5	1	2	1	5	4			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chrX:149898659G>A	ENST00000370390.3	+	6	767	c.610G>A	c.(610-612)Gca>Aca	p.A204T	MTMR1_ENST00000544228.1_Missense_Mutation_p.A204T|MTMR1_ENST00000541925.1_Missense_Mutation_p.A110T|MTMR1_ENST00000451863.2_Missense_Mutation_p.A204T|MTMR1_ENST00000542156.1_Missense_Mutation_p.A204T|MTMR1_ENST00000538506.1_Missense_Mutation_p.A91T|MTMR1_ENST00000445323.2_Missense_Mutation_p.A212T	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	204					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)					CAACAAACATGCATTTCCTCT	0.363																																																	0													114	101	106					X																	149898659		2203	4300	6503	SO:0001583	missense	0			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.610G>A	X.37:g.149898659G>A	ENSP00000359417:p.Ala204Thr		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.A212T	ENST00000370390.3	37	c.634	CCDS14695.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.346868	0.95807	.	.	ENSG00000063601	ENST00000541925;ENST00000493995;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.35	5.35	0.76521	.	0.051326	0.85682	D	0.000000	D	0.89529	0.6741	L	0.56769	1.78	0.80722	D	1	D;P;D	0.89917	1.0;0.953;1.0	D;P;D	0.75020	0.985;0.714;0.984	D	0.89303	0.3627	10	0.48119	T	0.1	.	18.4331	0.90633	0.0:0.0:1.0:0.0	.	204;212;204	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	T	110;110;204;204;212;204;204;91	ENSP00000441879:A110T;ENSP00000431992:A110T;ENSP00000445281:A204T;ENSP00000359417:A204T;ENSP00000414178:A212T;ENSP00000440534:A204T;ENSP00000387446:A204T;ENSP00000443444:A91T	ENSP00000359417:A204T	A	+	1	0	MTMR1	149649317	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.547000	0.98100	2.381000	0.81170	0.600000	0.82982	GCA	MTMR1	-	NULL	ENSG00000063601		0.363	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR1	HGNC	protein_coding	OTTHUMT00000060863.2	-	0	31	0	G	NM_003828, NM_176789		149898659	1	tier1	-	no_errors	ENST00000445323	ensembl	human	known	74_37	missense	64.44	16	29	SNP	1.000	A	A	149898659	G	A	149898659	3	1	119	1	0	0	0	0	1	0	0	0	9976	1319	46	3	632	3	MTMR1	23	149898659	Missense_Mutation	SNP	G	TCGA-LN-A4MQ-01A-11D-A28B-09	46538662	149898659	5371901	93	31531											
PLEKHN1	84069	genome.wustl.edu	37	chr1	908636	908636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacgcagtggcagcagccGgtcacccgggagcaaggccc	9	2	16	14	3	1	1	1	0	0	1	1	3	1	2	3	4	3	4	3	4	1	0			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:908636G>A	ENST00000379409.2	+	11	1409	c.1379G>A	c.(1378-1380)cGg>cAg	p.R460Q	PLEKHN1_ENST00000379407.3_Intron|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R408Q			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	460										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGCAGCAGCCGGTCACCCGGG	0.692																																																	0													5	7	6					1																	908636		1942	3792	5734	SO:0001583	missense	0			AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1379G>A	1.37:g.908636G>A	ENSP00000368719:p.Arg460Gln		Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	smart_Pleckstrin_homology	p.R460Q	ENST00000379409.2	37	c.1379		1	.	.	.	.	.	.	.	.	.	.	G	7.396	0.631697	0.14322	.	.	ENSG00000187583	ENST00000379410;ENST00000379409	T;T	0.49720	0.79;0.77	4.46	0.393	0.16294	.	0.622381	0.15579	N	0.255003	T	0.20251	0.0487	N	0.19112	0.55	0.09310	N	1	P;B	0.38078	0.617;0.18	B;B	0.21360	0.034;0.013	T	0.11131	-1.0600	10	0.27785	T	0.31	.	4.1308	0.10148	0.3872:0.1694:0.4434:0.0	.	460;408	Q494U1;Q494U1-2	PKHN1_HUMAN;.	Q	408;460	ENSP00000368720:R408Q;ENSP00000368719:R460Q	ENSP00000368719:R460Q	R	+	2	0	PLEKHN1	898499	0.030000	0.19436	0.011000	0.14972	0.080000	0.17528	0.724000	0.25954	-0.078000	0.12730	-0.373000	0.07131	CGG	PLEKHN1	-	NULL	ENSG00000187583		0.692	PLEKHN1-005	KNOWN	basic	protein_coding	PLEKHN1	HGNC	protein_coding	OTTHUMT00000473256.1	-	0	52	0	G	NM_032129		908636	1	tier1	-	no_errors	ENST00000379409	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.000	A	A	908636	G	A	908636	3	1	120	1	0	0	0	0	1	0	0	0	12122	1116	39	1	1305	1	PLEKHN1	1	908636	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		908636	248341985	1	31532											
SLC35E2	728661	genome.wustl.edu	37	chr1	1601102	1601102	+	Splice_Site	DEL	C	C	-																															acgcctgtgtctgaaacccaCcgtaaagaaaacccgggccg																										TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:1601102delC	ENST00000378662.1	-	8	1595		c.e8+1		SLC35E2B_ENST00000234800.6_Splice_Site|RP11-345P4.7_ENST00000596308.1_RNA			P0CK96	S352B_HUMAN	solute carrier family 35, member E2B							integral component of membrane (GO:0016021)				kidney(1)|lung(1)	2						CTGAAACCCACCGTAAAGAAA	0.642																																																	0													48	60	56					1																	1601102		692	1591	2283	SO:0001630	splice_region_variant	0				CCDS44041.1	1p36.33	2013-05-22			ENSG00000189339	ENSG00000189339		"Solute carriers"	33941	protein-coding gene	gene with protein product							Standard	XM_006710870		Approved		uc001ahg.4	P0CK96	OTTHUMG00000078639	ENST00000378662.1:c.834+1G>-	1.37:g.1601102delC			B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8	Splice_Site	DEL	-	e6+1	ENST00000378662.1	37	c.834+1	CCDS44041.1	1																																																																																			SLC35E2B	-	-	ENSG00000189339		0.642	SLC35E2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC35E2B	HGNC	protein_coding	OTTHUMT00000171589.1		0	54	0	C		Intron	1601102	-1	tier1		no_errors	ENST00000234800	ensembl	human	known	74_37	splice_site_del	21.43	33	9	DEL	1.000	-	-	1601102	C	-	1601102	8	5	120	1	0	1	0	1	0	0	1	0	14630	521	18	0	394	0	SLC35E2	1	1601102	Splice_Site	DEL	C	TCGA-LN-A4MR-01A-11D-A28B-09	692466	1601102	247649519	2	31533											
CHD5	26038	genome.wustl.edu	37	chr1	6202187	6202187	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaggatagcgagccctcaCcttcatacggaataccttct	11	9	7	14	2	3	0	2	0	1	0	3	3	3	2	4	2	4	0	4	2	5	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:6202187C>T	ENST00000262450.3	-	15	2536		c.e15+1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGAGCCCTCACCTTCATACGG	0.597																																																	0													143	137	139					1																	6202187		2203	4300	6503	SO:0001630	splice_region_variant	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2436+1G>A	1.37:g.6202187C>T			A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	-	e15+1	ENST00000262450.3	37	c.2436+1	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.167071	0.57476	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	.	.	.	4.07	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6218	0.84932	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD5	6124774	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	7.693000	0.84214	1.977000	0.57605	0.561000	0.74099	.	CHD5	-	-	ENSG00000116254		0.597	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	-	0	39	0	C	NM_015557	Intron	6202187	-1	tier1	-	no_errors	ENST00000262450	ensembl	human	known	74_37	splice_site	48.39	16	15	SNP	1.000	T	T	6202187	C	T	6202187	5	4	120	1	0	0	0	0	0	0	1	0	3335	521	18	3	3535	3	CHD5	1	6202187	Splice_Site	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	4601085	6202187	243048434	3	31534											
ENO1	2023	genome.wustl.edu	37	chr1	8928111	8928111	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcttgttctgtgacgttCagtttctacgagggagaggg	6	15	13	7	2	4	2	1	1	3	1	5	4	4	2	0	2	1	3	0	2	1	6			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:8928111C>T	ENST00000234590.4	-	5	365	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	82					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)		CTGTGACGTTCAGTTTCTACG	0.473																																					Esophageal Squamous(21;302 608 19946 22210 33560)												0													348	338	341					1																	8928111		2203	4300	6503	SO:0001819	synonymous_variant	0			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.246G>A	1.37:g.8928111C>T			B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.L82	ENST00000234590.4	37	c.246	CCDS97.1	1																																																																																			ENO1	-	pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase	ENSG00000074800		0.473	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	-	0	49	0	C	NM_001428		8928111	-1	tier1	-	no_errors	ENST00000234590	ensembl	human	known	74_37	silent	16.67	35	7	SNP	0.875	T	T	8928111	C	T	8928111	2	4	120	1	0	0	0	0	0	0	0	1	5137	813	29	3		3	ENO1	1	8928111	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	2725924	8928111	240322510	4	31535											
UBR4	23352	genome.wustl.edu	37	chr1	19493660	19493660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcggcaacactctcagtgCttgattccaaaagaagaggt	12	10	9	10	1	2	3	1	1	2	2	5	3	3	3	1	2	2	2	1	2	4	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:19493660C>T	ENST00000375254.3	-	29	3992	c.3965G>A	c.(3964-3966)aGc>aAc	p.S1322N	UBR4_ENST00000375226.2_Missense_Mutation_p.S1322N|UBR4_ENST00000375267.2_Missense_Mutation_p.S1322N|UBR4_ENST00000375217.2_Missense_Mutation_p.S1322N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1322					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)		ACTCTCAGTGCTTGATTCCAA	0.463																																																	0													138	129	132					1																	19493660		2203	4300	6503	SO:0001583	missense	0			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.3965G>A	1.37:g.19493660C>T	ENSP00000364403:p.Ser1322Asn		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S1322N	ENST00000375254.3	37	c.3965	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636945	0.87760	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.19	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	N	0.22421	0.69	0.80722	D	1	D	0.54601	0.967	P	0.60682	0.878	T	0.69778	-0.5053	10	0.40728	T	0.16	.	19.7902	0.96453	0.0:1.0:0.0:0.0	.	1322	Q5T4S7	UBR4_HUMAN	N	1322;1322;1322;1322;32;538	ENSP00000364403:S1322N;ENSP00000364416:S1322N;ENSP00000364365:S1322N;ENSP00000364374:S1322N;ENSP00000404897:S32N	ENSP00000364365:S1322N	S	-	2	0	UBR4	19366247	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.424000	0.80242	2.780000	0.95670	0.585000	0.79938	AGC	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.463	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	54	0	C	NM_020765		19493660	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	38.89	22	14	SNP	1.000	T	T	19493660	C	T	19493660	3	4	120	1	0	0	0	0	1	0	0	0	16953	797	28	3	11898	3	UBR4	1	19493660	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	10565549	19493660	229756961	5	31536											
C1QC	714	genome.wustl.edu	37	chr1	22974181	22974181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgaggttgcaggtgggcGaggaggtgtggctggctgtc	4	10	21	6	1	0	1	0	1	0	0	1	3	0	2	0	7	2	5	0	7	0	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:22974181G>A	ENST00000374639.3	+	3	761	c.643G>A	c.(643-645)Gag>Aag	p.E215K	C1QC_ENST00000374637.1_Missense_Mutation_p.E215K|C1QC_ENST00000374640.4_Missense_Mutation_p.E215K	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	215	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.			E -> G (in Ref. 3; BAB71575). {ECO:0000305}.	complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCAGGTGGGCGAGGAGGTGTG	0.612																																					Ovarian(26;671 750 8290 29071 43278)												0													114	109	111					1																	22974181		2203	4300	6503	SO:0001583	missense	0			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.643G>A	1.37:g.22974181G>A	ENSP00000363770:p.Glu215Lys		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.E215K	ENST00000374639.3	37	c.643	CCDS227.1	1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216532	0.58452	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.76578	-1.03;-1.03;-1.03	4.79	0.0566	0.14319	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.924886	0.09343	N	0.815226	D	0.82866	0.5130	M	0.77486	2.375	0.23406	N	0.997745	D	0.58268	0.982	P	0.52672	0.706	T	0.73110	-0.4086	10	0.87932	D	0	.	11.2507	0.49024	0.0835:0.6231:0.2934:0.0	.	215	P02747	C1QC_HUMAN	K	215	ENSP00000363771:E215K;ENSP00000363770:E215K;ENSP00000363768:E215K	ENSP00000363768:E215K	E	+	1	0	C1QC	22846768	0.166000	0.22962	0.311000	0.25182	0.482000	0.33219	0.521000	0.22893	0.399000	0.25367	0.561000	0.74099	GAG	C1QC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000159189		0.612	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	HGNC	protein_coding	OTTHUMT00000008083.1	-	0	54	0	G	NM_172369		22974181	1	tier1	-	no_errors	ENST00000374637	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.489	A	A	22974181	G	A	22974181	3	1	120	1	0	0	0	0	1	0	0	0	1964	1059	37	1	649	1	C1QC	1	22974181	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	3480521	22974181	226276440	6	31537											
C1orf172	126695	genome.wustl.edu	37	chr1	27278224	27278224	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgactcatggaaagaataGtactcctcggagccacgagg	12	7	11	11	3	1	1	1	0	0	1	4	5	3	3	3	3	2	1	3	3	4	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:27278224G>C	ENST00000320567.5	-	2	736	c.648C>G	c.(646-648)taC>taG	p.Y216*		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		216					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)		GGAAAGAATAGTACTCCTCGG	0.587																																																	0													40	42	41					1																	27278224		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000320567.5:c.648C>G	1.37:g.27278224G>C	ENSP00000319179:p.Tyr216*		Q5QP32|Q8N0S7	Nonsense_Mutation	SNP	NULL	p.Y216*	ENST00000320567.5	37	c.648	CCDS293.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.12|17.12	3.309165|3.309165	0.60414|0.60414	.|.	.|.	ENSG00000175707|ENSG00000175707	ENST00000374109|ENST00000320567	.|.	.|.	.|.	4.77|4.77	3.78|3.78	0.43462|0.43462	.|.	.|0.170166	.|0.43110	.|D	.|0.000611	T|.	0.23688|.	0.0573|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27123|.	-1.0083|.	4|.	0.52906|0.02654	T|T	0.07|1	.|.	9.9699|9.9699	0.41747|0.41747	0.1696:0.0:0.8304:0.0|0.1696:0.0:0.8304:0.0	.|.	.|.	.|.	.|.	S|X	177|216	.|.	ENSP00000363223:T177S|ENSP00000319179:Y216X	T|Y	-|-	2|3	0|2	C1orf172|C1orf172	27150811|27150811	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.715000|0.715000	0.41141|0.41141	0.267000|0.267000	0.18552|0.18552	2.487000|2.487000	0.83934|0.83934	0.555000|0.555000	0.69702|0.69702	ACT|TAC	C1orf172	-	NULL	ENSG00000175707		0.587	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf172	HGNC	protein_coding	OTTHUMT00000012340.1	-	0	51	0	G			27278224	-1	tier1	-	no_errors	ENST00000320567	ensembl	human	known	74_37	nonsense	18.18	27	6	SNP	1.000	C	C	27278224	G	C	27278224	4	2	120	1	0	0	0	0	0	1	0	0	2020	1024	36	5	560	5	C1orf172	1	27278224	Nonsense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	4304043	27278224	221972397	7	31538											
HEYL	26508	genome.wustl.edu	37	chr1	40092514	40092514	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgaaggggagcggttcGgagggctgggatggggtaag	7	7	22	5	3	1	0	0	0	1	0	2	4	1	3	0	8	2	3	0	8	2	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:40092514G>A	ENST00000372852.3	-	5	971	c.652C>T	c.(652-654)Cga>Tga	p.R218*	HEYL_ENST00000535435.1_Nonsense_Mutation_p.R190*	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	218	Pro-rich.				atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGAGCGGTTCGGAGGGCTGGG	0.682																																																	0													27	28	28					1																	40092514		2192	4290	6482	SO:0001587	stop_gained	0			BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"Basic helix-loop-helix proteins"	4882	protein-coding gene	gene with protein product	"hairy/enhancer-of-split related with YRPW motif 3"	609034	"hairy/enhancer-of-split related with YRPW motif-like"			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.652C>T	1.37:g.40092514G>A	ENSP00000361943:p.Arg218*		Q5TG99	Nonsense_Mutation	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.R218*	ENST00000372852.3	37	c.652	CCDS439.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.633248	0.96682	.	.	ENSG00000163909	ENST00000372852;ENST00000535435	.	.	.	5.02	0.538	0.17150	.	2.287770	0.02182	N	0.060571	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-25.6861	14.2411	0.65956	0.0:0.0:0.4046:0.5954	.	.	.	.	X	218;190	.	ENSP00000361943:R218X	R	-	1	2	HEYL	39865101	0.980000	0.34600	0.194000	0.23346	0.949000	0.60115	0.890000	0.28295	0.115000	0.18071	0.462000	0.41574	CGA	HEYL	-	NULL	ENSG00000163909		0.682	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEYL	HGNC	protein_coding	OTTHUMT00000001179.2	-	0	71	0	G	NM_014571		40092514	-1	tier1	-	no_errors	ENST00000372852	ensembl	human	known	74_37	nonsense	41.79	39	28	SNP	0.066	A	A	40092514	G	A	40092514	4	1	120	1	0	0	0	0	0	1	0	0	7107	1124	39	1	338	1	HEYL	1	40092514	Nonsense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	12814290	40092514	209158107	8	31539											
KIF2C	11004	genome.wustl.edu	37	chr1	45228229	45228229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctcagttatccaaggaaGaggaggaactgtcttcccag	11	9	10	11	0	2	1	1	0	2	1	5	4	4	4	3	3	1	1	3	3	4	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:45228229G>C	ENST00000372224.4	+	19	1983	c.1870G>C	c.(1870-1872)Gag>Cag	p.E624Q	RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.E583Q|KIF2C_ENST00000372217.1_Missense_Mutation_p.E570Q|KIF2C_ENST00000372222.3_Missense_Mutation_p.E511Q	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	624					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)					ATCCAAGGAAGAGGAGGAACT	0.517																																																	0													103	93	96					1																	45228229		2203	4300	6503	SO:0001583	missense	0			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.1870G>C	1.37:g.45228229G>C	ENSP00000361298:p.Glu624Gln		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E624Q	ENST00000372224.4	37	c.1870	CCDS512.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.68|19.68	3.873121|3.873121	0.72180|0.72180	.|.	.|.	ENSG00000142945|ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217|ENST00000423289	T;T;T;T|.	0.76060|.	-0.99;-0.79;-0.97;-0.99|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.133374|.	0.51477|.	D|.	0.000084|.	T|T	0.49236|0.49236	0.1545|0.1545	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	P;P;P|.	0.47910|.	0.651;0.571;0.902|.	B;B;B|.	0.41571|.	0.136;0.266;0.36|.	T|T	0.41680|0.41680	-0.9495|-0.9495	10|5	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	.|.	583;570;624|.	B7Z6Q6;Q99661-2;Q99661|.	.;.;KIF2C_HUMAN|.	Q|N	624;583;511;570|88	ENSP00000361298:E624Q;ENSP00000361292:E583Q;ENSP00000361296:E511Q;ENSP00000361291:E570Q|.	ENSP00000361291:E570Q|.	E|K	+|+	1|3	0|2	KIF2C|KIF2C	45000816|45000816	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.707000|0.707000	0.40811|0.40811	6.697000|6.697000	0.74603|0.74603	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|AAG	KIF2C	-	NULL	ENSG00000142945		0.517	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	-	0	33	0	G	NM_006845		45228229	1	tier1	-	no_errors	ENST00000372224	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	C	C	45228229	G	C	45228229	3	2	120	1	0	0	0	0	1	0	0	0	8326	943	33	5	1944	5	KIF2C	1	45228229	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	5135715	45228229	204022392	9	31540											
AKR1A1	10327	genome.wustl.edu	37	chr1	46035627	46035627	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctttaatgacccgtactGagaccacagcttcttggcct	8	11	7	15	1	1	2	0	2	1	1	1	3	1	2	5	1	2	2	5	1	2	5	rs368164790	byFrequency	TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:46035627G>A	ENST00000372070.3	+	10	1724	c.977G>A	c.(976-978)tGa>tAa	p.*326*	AKR1A1_ENST00000351829.4_Silent_p.*326*|AKR1A1_ENST00000473038.1_3'UTR	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)	0					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)	GACCCGTACTGAGACCACAGC	0.512											OREG0013453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													115	98	104					1																	46035627		2203	4300	6503	SO:0001819	synonymous_variant	0			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.977G>A	1.37:g.46035627G>A		936	A8KAL8|D3DQ04|Q6IAZ4	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.*326	ENST00000372070.3	37	c.977	CCDS523.1	1																																																																																			AKR1A1	-	NULL	ENSG00000117448		0.512	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1A1	HGNC	protein_coding	OTTHUMT00000020851.1	-	0	49	0	G	NM_006066		46035627	1	tier1	-	no_errors	ENST00000351829	ensembl	human	known	74_37	silent	26.67	33	12	SNP	1.000	A	A	46035627	G	A	46035627	2	1	120	1	0	0	0	0	0	0	0	1	465	1285	45	3		3	AKR1A1	1	46035627	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	807398	46035627	203214994	10	31541											
LEPR	3953	genome.wustl.edu	37	chr1	66075661	66075661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatgatgcaaaatcaaaatCtgtcagtctcccagttccag	13	12	6	10	0	4	1	2	1	2	0	6	1	5	1	2	0	1	2	2	0	5	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:66075661C>T	ENST00000349533.6	+	13	1969	c.1784C>T	c.(1783-1785)tCt>tTt	p.S595F	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.S595F|LEPR_ENST00000371060.3_Missense_Mutation_p.S595F|LEPR_ENST00000371058.1_Missense_Mutation_p.S595F|LEPR_ENST00000344610.8_Missense_Mutation_p.S595F	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)		AAATCAAAATCTGTCAGTCTC	0.408																																																	0													176	173	174					1																	66075661		2203	4300	6503	SO:0001583	missense	0			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.1784C>T	1.37:g.66075661C>T	ENSP00000330393:p.Ser595Phe		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S595F	ENST00000349533.6	37	c.1784	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	C	4.309	0.056585	0.08291	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.31	4.4	0.53042	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.531595	0.21594	N	0.072054	T	0.25568	0.0622	M	0.64676	1.99	0.23865	N	0.996623	B;B;B	0.26547	0.012;0.081;0.152	B;B;B	0.33750	0.022;0.169;0.135	T	0.28170	-1.0052	10	0.10902	T	0.67	-14.6057	6.0909	0.19993	0.1409:0.6512:0.1356:0.0722	.	595;595;595	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	F	595	ENSP00000340884:S595F;ENSP00000330393:S595F;ENSP00000360099:S595F;ENSP00000360098:S595F;ENSP00000360097:S595F	ENSP00000340884:S595F	S	+	2	0	LEPR	65848249	0.542000	0.26426	0.021000	0.16686	0.077000	0.17291	1.513000	0.35823	1.215000	0.43411	-0.158000	0.13435	TCT	LEPR	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116678		0.408	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	-	0	86	0	C	NM_002303		66075661	1	tier1	-	no_errors	ENST00000349533	ensembl	human	known	74_37	missense	49.32	37	36	SNP	0.121	T	T	66075661	C	T	66075661	3	4	120	1	0	0	0	0	1	0	0	0	8756	913	32	3	1826	3	LEPR	1	66075661	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	20040034	66075661	183174960	11	31542											
SGIP1	84251	genome.wustl.edu	37	chr1	67147594	67147594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaaaattgaaaaactacCatccatcaatgacttggaca	17	9	6	9	0	2	2	2	2	0	0	3	3	3	3	2	2	2	0	2	2	6	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:67147594C>A	ENST00000371037.4	+	15	934	c.857C>A	c.(856-858)cCa>cAa	p.P286Q	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P290Q|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	286	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						GAAAAACTACCATCCATCAAT	0.393																																																	0													116	115	115					1																	67147594		2203	4300	6503	SO:0001583	missense	0			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.857C>A	1.37:g.67147594C>A	ENSP00000360076:p.Pro286Gln		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.P290Q	ENST00000371037.4	37	c.869	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383575	0.82792	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.02890	4.12;4.12	5.45	5.45	0.79879	.	0.181451	0.48767	D	0.000167	T	0.08537	0.0212	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.19679	-1.0298	10	0.48119	T	0.1	-9.4414	19.6597	0.95861	0.0:1.0:0.0:0.0	.	289;286	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	Q	290;289;289;286	ENSP00000237247:P290Q;ENSP00000360076:P286Q	ENSP00000237247:P290Q	P	+	2	0	SGIP1	66920182	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.306000	0.78905	2.708000	0.92522	0.650000	0.86243	CCA	SGIP1	-	NULL	ENSG00000118473		0.393	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	-	0	50	0	C	NM_032291		67147594	1	tier1	-	no_errors	ENST00000237247	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	A	A	67147594	C	A	67147594	3	1	120	1	0	0	0	0	1	0	0	0	14251	594	21	3	915	3	SGIP1	1	67147594	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	1071933	67147594	182103027	12	31543											
CELSR2	1952	genome.wustl.edu	37	chr1	109801662	109801662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgggcgctgccgcagccgcGagggcggctacacctgcctc	5	4	15	17	6	0	0	0	0	0	0	1	1	0	0	4	3	4	3	4	3	1	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:109801662G>A	ENST00000271332.3	+	2	3980	c.3919G>A	c.(3919-3921)Gag>Aag	p.E1307K		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1307	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		CCGCAGCCGCGAGGGCGGCTA	0.701																																					NSCLC(158;1285 2011 34800 34852 42084)												0													7	10	9					1																	109801662		2098	4120	6218	SO:0001583	missense	0			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.3919G>A	1.37:g.109801662G>A	ENSP00000271332:p.Glu1307Lys		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.E1307K	ENST00000271332.3	37	c.3919	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986251	0.93044	.	.	ENSG00000143126	ENST00000271332	D	0.87334	-2.24	4.65	4.65	0.58169	EGF-like, laminin (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.86037	0.5837	N	0.20610	0.595	0.58432	D	0.999998	D	0.89917	1.0	D	0.68353	0.957	D	0.87756	0.2595	9	0.52906	T	0.07	.	17.6775	0.88234	0.0:0.0:1.0:0.0	.	1307	Q9HCU4	CELR2_HUMAN	K	1307	ENSP00000271332:E1307K	ENSP00000271332:E1307K	E	+	1	0	CELSR2	109603185	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.515000	0.81761	2.587000	0.87381	0.563000	0.77884	GAG	CELSR2	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000143126		0.701	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0	15	0	G	NM_001408		109801662	1			no_errors	ENST00000271332	ensembl	human	known	74_37	missense	16.67	10	2	SNP	0.998	A	A	109801662	G	A	109801662	3	1	120	1	0	0	0	0	1	0	0	0	3229	1059	37	1	3925	1	CELSR2	1	109801662	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	42654068	109801662	139448959	13	31544											
EPS8L3	79574	genome.wustl.edu	37	chr1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T																															actcacctccctggtccttgINSttttttttcccaaatttctt																										TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000494151.1_5'Flank|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs|EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm (GO:0005737)		p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545																																																	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)							,,	1,4261		0,1,2130					,,	-3.4	0			208	4,8246		0,4,4121	no	frameshift,frameshift,frameshift	EPS8L3	NM_139053.2,NM_133181.3,NM_024526.3	,,	0,5,6251	A1A1,A1R,RR		0.0485,0.0235,0.04	,,	,,		5,12507				SO:0001589	frameshift_variant	0			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.819dupA	1.37:g.110300587_110300587dupT	ENSP00000355255:p.Asn273fs		A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain	p.N274fs	ENST00000361965.4	37	c.822_821	CCDS814.1	1																																																																																			EPS8L3	-	NULL	ENSG00000198758		0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1		0	125	0	-	NM_024526		110300580	-1	tier1		no_errors	ENST00000369805	ensembl	human	known	74_37	frame_shift_ins	14.75	104	18	INS	0.016:0.352	T	T	110300580	-	T	110300579	7	5	120	1	0	1	1	0	0	0	0	0	5213	1368	48	0	1006	0	EPS8L3	1	110300579	Frame_Shift_Ins	INS	-	TCGA-LN-A4MR-01A-11D-A28B-09	498917	110300579	138950042	14	31545											
GPR89A	653519	genome.wustl.edu	37	chr1	145811926	145811927	+	Frame_Shift_Ins	INS	-	-	A																															ttgctcacaataaaatagccINSaatgtaaaaaggcaccatga																										TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:145811926_145811927insA	ENST00000313835.9	-	4	425_426	c.282_283insT	c.(280-285)attggcfs	p.G95fs	GPR89A_ENST00000462900.2_Frame_Shift_Ins_p.G70fs|GPR89A_ENST00000454423.3_5'UTR|GPR89A_ENST00000534502.1_Frame_Shift_Ins_p.G70fs			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	95					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ATAAAATAGCCAATGTAAAAAG	0.371																																																	0																																										SO:0001589	frameshift_variant	0			AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.283dupT	1.37:g.145811928_145811928dupA	ENSP00000319673:p.Gly95fs		A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Frame_Shift_Ins	INS	pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom	p.G94fs	ENST00000313835.9	37	c.283_282	CCDS41377.1	1																																																																																			GPR89A	-	NULL	ENSG00000117262		0.371	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR89A	HGNC	protein_coding	OTTHUMT00000038507.2		0	29	0	-	NM_001097612		145811927	-1	tier1		no_errors	ENST00000313835	ensembl	human	known	74_37	frame_shift_ins	25.53	35	12	INS	1.000:1.000	A	A	145811927	-	A	145811926	7	5	120	1	0	1	1	0	0	0	0	0	6744	594	21	0	1128	0	GPR89A	1	145811926	Frame_Shift_Ins	INS	-	TCGA-LN-A4MR-01A-11D-A28B-09	35511347	145811926	103438695	15	31546											
CGN	57530	genome.wustl.edu	37	chr1	151491113	151491113	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcactctacgtcgaggtggaCgacgcccagctaaggatgca	10	6	13	12	4	1	0	0	0	1	0	2	4	1	2	1	3	3	3	1	3	2	2	rs376940080		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:151491113C>T	ENST00000271636.7	+	2	251	c.118C>T	c.(118-120)Cga>Tga	p.R40*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	34	Head.				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)			TCGAGGTGGACGACGCCCAGC	0.607																																																	0								C	stop/ARG	0,4406		0,0,2203	117	108	111		118	2.8	0.6	1		111	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	CGN	NM_020770.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		40/1204	151491113	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			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.118C>T	1.37:g.151491113C>T	ENSP00000271636:p.Arg40*		A6H8L3|A7MD22|Q5T386|Q9NR25	Nonsense_Mutation	SNP	pfam_Myosin_tail	p.R40*	ENST00000271636.7	37	c.118	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016651	0.93404	0.0	1.16E-4	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	.	.	.	4.75	2.78	0.32641	.	0.221292	0.40064	N	0.001199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2588	10.2974	0.43631	0.1531:0.6995:0.1475:0.0	.	.	.	.	X	40	.	ENSP00000271636:R40X	R	+	1	2	CGN	149757737	0.595000	0.26857	0.585000	0.28666	0.953000	0.61014	1.045000	0.30341	0.667000	0.31107	0.655000	0.94253	CGA	CGN	-	NULL	ENSG00000143375		0.607	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	-	0	57	0	C	NM_020770		151491113	1	tier1	-	no_errors	ENST00000271636	ensembl	human	known	74_37	nonsense	12.70	55	8	SNP	0.869	T	T	151491113	C	T	151491113	4	4	120	1	0	0	0	0	0	1	0	0	3310	528	19	1	120	1	CGN	1	151491113	Nonsense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	5679187	151491113	97759508	16	31547											
PYGO2	90780	genome.wustl.edu	37	chr1	154932041	154932041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaccctgggggggcatgttGaaagcagggcccataggatt	9	7	17	8	0	0	1	0	1	0	0	0	3	0	3	2	6	1	3	2	6	2	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:154932041G>C	ENST00000368457.2	-	3	606	c.435C>G	c.(433-435)ttC>ttG	p.F145L	PYGO2_ENST00000368456.1_Missense_Mutation_p.F108L|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	145	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)			GGGGCATGTTGAAAGCAGGGC	0.632																																					NSCLC(87;357 1460 1955 21029 23522)												0													35	42	39					1																	154932041		2203	4300	6503	SO:0001583	missense	0			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.435C>G	1.37:g.154932041G>C	ENSP00000357442:p.Phe145Leu		Q8WYZ4|Q96CY2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.F145L	ENST00000368457.2	37	c.435	CCDS1075.1	1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194542	0.38806	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.48201	0.82;0.84	4.66	3.73	0.42828	.	0.160260	0.43416	D	0.000568	T	0.15046	0.0363	L	0.27053	0.805	0.30819	N	0.73802	B	0.13594	0.008	B	0.08055	0.003	T	0.08554	-1.0716	10	0.42905	T	0.14	-4.8253	7.6884	0.28554	0.1995:0.0:0.8005:0.0	.	145	Q9BRQ0	PYGO2_HUMAN	L	145;108	ENSP00000357442:F145L;ENSP00000357441:F108L	ENSP00000357441:F108L	F	-	3	2	PYGO2	153198665	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.942000	0.29017	1.147000	0.42369	0.462000	0.41574	TTC	PYGO2	-	NULL	ENSG00000163348		0.632	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGO2	HGNC	protein_coding	OTTHUMT00000090949.1		0	22	0	G	NM_138300		154932041	-1			no_errors	ENST00000368457	ensembl	human	known	74_37	missense	13.33	13	2	SNP	1.000	C	C	154932041	G	C	154932041	3	2	120	1	0	0	0	0	1	0	0	0	12909	1281	45	5	789	5	PYGO2	1	154932041	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	3440928	154932041	94318580	17	31548											
PAPPA2	60676	genome.wustl.edu	37	chr1	176564460	176564460	+	Missense_Mutation	SNP	A	A	C	1	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	tgagcgtccaccaggtccacAattccaccctgcgacaccgg	9	6	9	17	3	0	1	0	1	0	0	3	2	3	1	6	2	2	0	6	2	1	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:176564460A>C	ENST00000367662.3	+	3	2884	c.1720A>C	c.(1720-1722)Aat>Cat	p.N574H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.N574H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	574	Metalloprotease.				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						CCAGGTCCACAATTCCACCCT	0.567																																																	0													93	96	95					1																	176564460		2129	4244	6373	SO:0001583	missense	0			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.1720A>C	1.37:g.176564460A>C	ENSP00000356634:p.Asn574His		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.N574H	ENST00000367662.3	37	c.1720	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.236418	0.39498	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.46451	0.87;0.87	5.11	3.99	0.46301	Notch domain (1);	0.049907	0.85682	D	0.000000	T	0.56572	0.1994	M	0.79693	2.465	0.40407	D	0.979713	D;P	0.54964	0.969;0.788	P;B	0.55087	0.768;0.389	T	0.64424	-0.6411	10	0.87932	D	0	-27.5674	9.9733	0.41768	0.9197:0.0:0.0803:0.0	.	574;574	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	H	574	ENSP00000356634:N574H;ENSP00000356633:N574H	ENSP00000356633:N574H	N	+	1	0	PAPPA2	174831083	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	6.230000	0.72301	1.921000	0.55644	0.455000	0.32223	AAT	PAPPA2	-	smart_Notch_dom	ENSG00000116183		0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	65	0	A			176564460	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	28.30	38	15	SNP	1.000	C	C	176564460	A	C	176564460	3	2	120	1	0	0	0	0	1	0	0	0	11472	130	5	4	1726	4	PAPPA2	1	176564460	Missense_Mutation	SNP	A	TCGA-LN-A4MR-01A-11D-A28B-09	21632419	176564460	72686161	18	31549											
HMCN1	83872	genome.wustl.edu	37	chr1	186106700	186106700	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggaaaaggcatccaaaaGaggagtcgtctgtgcaacca	14	7	12	8	1	1	1	0	0	1	1	3	3	2	3	2	3	2	2	2	3	5	0			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:186106700G>C	ENST00000271588.4	+	88	13882	c.13653G>C	c.(13651-13653)aaG>aaC	p.K4551N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K4551N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4551	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCATCCAAAAGAGGAGTCGTC	0.483																																																	0													72	72	72					1																	186106700		2203	4300	6503	SO:0001583	missense	0			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.13653G>C	1.37:g.186106700G>C	ENSP00000271588:p.Lys4551Asn		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.K4551N	ENST00000271588.4	37	c.13653	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295531	0.60086	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.53857	0.6;0.6	5.78	3.7	0.42460	.	0.090481	0.85682	D	0.000000	T	0.49813	0.1579	L	0.33485	1.01	0.37625	D	0.921443	D	0.54772	0.968	P	0.56960	0.81	T	0.48198	-0.9056	10	0.16420	T	0.52	.	8.8408	0.35140	0.2728:0.0:0.7272:0.0	.	4551	Q96RW7	HMCN1_HUMAN	N	4551	ENSP00000271588:K4551N;ENSP00000356462:K4551N	ENSP00000271588:K4551N	K	+	3	2	HMCN1	184373323	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.431000	0.34925	1.448000	0.47680	0.650000	0.86243	AAG	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143341		0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	44	0	G	NM_031935		186106700	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	C	C	186106700	G	C	186106700	3	2	120	1	0	0	0	0	1	0	0	0	7247	933	33	5	14003	5	HMCN1	1	186106700	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	9542240	186106700	63143921	19	31550											
RABIF	5877	genome.wustl.edu	37	chr1	202858168	202858168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaacgctggcacagcaccGccttccggtttcggccctcg	5	7	11	18	6	0	0	0	0	0	0	3	0	1	0	4	3	2	5	4	3	1	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:202858168G>A	ENST00000367262.3	-	1	95	c.59C>T	c.(58-60)gCg>gTg	p.A20V		NM_002871.4	NP_002862.2	P47224	MSS4_HUMAN	RAB interacting factor	20					membrane fusion (GO:0061025)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCACAGCACCGCCTTCCGGTT	0.682																																																	0													30	29	30					1																	202858168		2202	4299	6501	SO:0001583	missense	0			S78873	CCDS1428.1	1q32.1	2008-05-14			ENSG00000183155	ENSG00000183155			9797	protein-coding gene	gene with protein product		603417		RASGRF3		9441742, 7619808	Standard	NM_002871		Approved	mss4	uc001gyl.3	P47224	OTTHUMG00000041400	ENST00000367262.3:c.59C>T	1.37:g.202858168G>A	ENSP00000356231:p.Ala20Val		B2R4P4|Q92992	Missense_Mutation	SNP	pfam_Mss4,superfamily_Mss4-like	p.A20V	ENST00000367262.3	37	c.59	CCDS1428.1	1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930094	0.52759	.	.	ENSG00000183155	ENST00000367262	.	.	.	4.69	2.84	0.33178	Mss4-like (1);Mss4/translationally controlled tumour-associated TCTP (1);	0.128004	0.52532	D	0.000075	T	0.40423	0.1116	L	0.45581	1.43	0.48040	D	0.999575	D	0.67145	0.996	B	0.40199	0.322	T	0.18871	-1.0323	9	0.37606	T	0.19	-54.0987	8.9207	0.35610	0.1735:0.0:0.8265:0.0	.	20	P47224	MSS4_HUMAN	V	20	.	ENSP00000356231:A20V	A	-	2	0	RABIF	201124791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.132000	0.71676	0.592000	0.29728	0.655000	0.94253	GCG	RABIF	-	pfam_Mss4,superfamily_Mss4-like	ENSG00000183155		0.682	RABIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABIF	HGNC	protein_coding	OTTHUMT00000099183.1	-	0	21	0	G			202858168	-1	tier1	-	no_errors	ENST00000367262	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	A	A	202858168	G	A	202858168	3	1	120	1	0	0	0	0	1	0	0	0	13014	1087	38	1	320	1	RABIF	1	202858168	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	16751468	202858168	46392453	20	31551											
EXOC8	149371	genome.wustl.edu	37	chr1	231472549	231472549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggttcttcttcttcgtCatcctcaaatgggttagtgg	6	16	10	9	1	5	0	2	0	3	0	7	0	6	0	1	3	1	3	1	3	2	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:231472549C>T	ENST00000360394.2	-	1	1029	c.943G>A	c.(943-945)Gac>Aac	p.D315N	SPRTN_ENST00000391858.4_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.D311N|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	315					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)				TCTTCTTCGTCATCCTCAAAT	0.562																																																	0													132	115	120					1																	231472549		2203	4300	6503	SO:0001583	missense	0			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.943G>A	1.37:g.231472549C>T	ENSP00000353564:p.Asp315Asn		B3KU33|Q5TE82	Missense_Mutation	SNP	superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D315N	ENST00000360394.2	37	c.943	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869588	0.33069	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77358	-1.09;-1.09	5.28	5.28	0.74379	.	0.242758	0.40385	N	0.001104	T	0.69842	0.3156	L	0.41824	1.3	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.53208	-0.8471	10	0.18710	T	0.47	-3.8042	16.7031	0.85364	0.0:1.0:0.0:0.0	.	315	Q8IYI6	EXOC8_HUMAN	N	315;311	ENSP00000353564:D315N;ENSP00000355605:D311N	ENSP00000353564:D315N	D	-	1	0	EXOC8	229539172	1.000000	0.71417	0.060000	0.19600	0.791000	0.44710	5.881000	0.69706	2.440000	0.82611	0.561000	0.74099	GAC	EXOC8	-	NULL	ENSG00000116903		0.562	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		-	0	47	0	C	NM_175876		231472549	-1	tier1	-	no_errors	ENST00000360394	ensembl	human	known	74_37	missense	25.93	40	14	SNP	0.160	T	T	231472549	C	T	231472549	3	4	120	1	0	0	0	0	1	0	0	0	5327	826	29	3	1238	3	EXOC8	1	231472549	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	28614381	231472549	17778072	21	31552											
LYST	1130	genome.wustl.edu	37	chr1	235922855	235922855	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggcttctagaacgcagcaTatgggcggccatctgttgtg	8	11	13	9	2	2	1	0	0	2	1	2	1	2	1	1	3	2	4	1	3	4	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:235922855T>C	ENST00000389794.3	-	23	6472	c.6298A>G	c.(6298-6300)Atg>Gtg	p.M2100V	LYST_ENST00000389793.2_Missense_Mutation_p.M2100V|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2100					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)			GAACGCAGCATATGGGCGGCC	0.403																																																	0													57	57	57					1																	235922855		2203	4300	6503	SO:0001583	missense	0			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.6298A>G	1.37:g.235922855T>C	ENSP00000374444:p.Met2100Val		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M2100V	ENST00000389794.3	37	c.6298	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	T	3.850	-0.032076	0.07543	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.60171	0.21;0.21	4.72	3.58	0.41010	.	.	.	.	.	T	0.37865	0.1019	N	0.16478	0.41	0.09310	N	0.999999	B	0.09022	0.002	B	0.06405	0.002	T	0.19976	-1.0289	9	0.30854	T	0.27	.	6.9367	0.24470	0.0:0.0792:0.169:0.7518	.	2100	Q99698	LYST_HUMAN	V	2100	ENSP00000374444:M2100V;ENSP00000374443:M2100V	ENSP00000374443:M2100V	M	-	1	0	LYST	233989478	0.000000	0.05858	0.022000	0.16811	0.758000	0.43043	0.115000	0.15540	0.830000	0.34757	0.456000	0.33151	ATG	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.403	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0	21	0	T			235922855	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	missense	20.69	23	6	SNP	0.005	C	C	235922855	T	C	235922855	3	2	120	1	0	0	0	0	1	0	0	0	9164	1406	49	4	5231	4	LYST	1	235922855	Missense_Mutation	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	4450306	235922855	13327766	22	31553											
RYR2	6262	genome.wustl.edu	37	chr1	237863703	237863703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattacaccacagtggccctGctgccaatgctgtcttcatt	9	12	7	13	0	2	0	1	0	1	0	2	0	2	0	3	1	4	2	3	1	3	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:237863703G>A	ENST00000366574.2	+	65	9620	c.9303G>A	c.(9301-9303)ctG>ctA	p.L3101L	RYR2_ENST00000542537.1_Silent_p.L3085L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.L3099L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3101					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)			CAGTGGCCCTGCTGCCAATGC	0.418																																																	0													38	38	38					1																	237863703		1892	4116	6008	SO:0001819	synonymous_variant	0			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.9303G>A	1.37:g.237863703G>A			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L3099	ENST00000366574.2	37	c.9297	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	54	0	G	NM_001035		237863703	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	20.90	53	14	SNP	0.990	A	A	237863703	G	A	237863703	2	1	120	1	0	0	0	0	0	0	0	1	13814	1306	46	3		3	RYR2	1	237863703	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	1940848	237863703	11386918	23	31554											
OR2M4	26245	genome.wustl.edu	37	chr1	248402808	248402808	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatcctgcacagaaacatCtgcatttgaaagactacttg	13	12	6	10	0	2	3	0	1	2	2	3	3	3	3	1	0	4	2	1	0	4	4	rs374565024		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr1:248402808C>A	ENST00000306687.1	+	1	578	c.578C>A	c.(577-579)tCt>tAt	p.S193Y		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	193					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)			ACAGAAACATCTGCATTTGAA	0.413																																																	0													134	131	132					1																	248402808		2203	4300	6503	SO:0001583	missense	0			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.578C>A	1.37:g.248402808C>A	ENSP00000306688:p.Ser193Tyr		Q15611|Q8NG82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S193Y	ENST00000306687.1	37	c.578	CCDS31108.1	1	.	.	.	.	.	.	.	.	.	.	c	12.51	1.958728	0.34565	.	.	ENSG00000171180	ENST00000306687	T	0.00044	8.83	3.34	1.2	0.21068	GPCR, rhodopsin-like superfamily (1);	1.726390	0.03917	N	0.282935	T	0.00241	0.0007	L	0.27053	0.805	0.09310	N	1	D	0.57257	0.979	D	0.67725	0.953	T	0.52230	-0.8603	10	0.45353	T	0.12	.	4.2534	0.10705	0.4017:0.4705:0.0:0.1277	.	193	Q96R27	OR2M4_HUMAN	Y	193	ENSP00000306688:S193Y	ENSP00000306688:S193Y	S	+	2	0	OR2M4	246469431	0.000000	0.05858	0.710000	0.30468	0.949000	0.60115	-2.842000	0.00737	0.716000	0.32124	0.543000	0.68304	TCT	OR2M4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171180		0.413	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M4	HGNC	protein_coding	OTTHUMT00000097352.1	-	0	78	0	C	NM_017504		248402808	1	tier1	-	no_errors	ENST00000306687	ensembl	human	known	74_37	missense	28.89	64	26	SNP	0.000	A	A	248402808	C	A	248402808	3	1	120	1	0	0	0	0	1	0	0	0	11051	913	32	3	580	3	OR2M4	1	248402808	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	10539105	248402808	847813	24	31555											
ADD2	119	genome.wustl.edu	37	chr2	70890767	70890767	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgaggatttcctctgcCgtctgctcctcctccctccc	2	14	7	18	1	2	1	0	1	2	0	7	2	7	2	6	1	3	2	6	1	0	2	rs540699345		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:70890767C>T	ENST00000264436.4	-	16	2415	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Silent_p.T657T	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	657					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)	p.T657T(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTTCCTCTGCCGTCTGCTCCT	0.572													C|||	1	0.000199681	0	0	5008	,	,		16900	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	large_intestine(1)											159	134	143					2																	70890767		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1971G>A	2.37:g.70890767C>T			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.T657	ENST00000264436.4	37	c.1971	CCDS1906.1	2																																																																																			ADD2	-	NULL	ENSG00000075340		0.572	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	-	0	56	0	C	NM_001617		70890767	-1	tier1	-	no_errors	ENST00000264436	ensembl	human	known	74_37	silent	23.21	43	13	SNP	0.000	T	T	70890767	C	T	70890767	2	4	120	1	0	0	0	0	0	0	0	1	305	639	23	1		1	ADD2	2	70890767	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09		70890767	172308606	25	31556											
TSGA10	80705	genome.wustl.edu	37	chr2	99634813	99634813	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgtacggccctctccCtaaagcaaaatagtgatgct	10	12	8	11	1	2	1	0	1	2	0	3	1	2	1	2	1	3	4	2	1	6	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:99634813C>T	ENST00000393483.3	-	20	2767		c.e20-1		TSGA10_ENST00000539964.1_Splice_Site|TSGA10_ENST00000355053.4_Splice_Site|TSGA10_ENST00000410001.1_Splice_Site	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						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						GGCCCTCTCCCTAAAGCAAAA	0.318																																																	0													89	89	89					2																	99634813		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1923-1G>A	2.37:g.99634813C>T			B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Splice_Site	SNP	-	e15-1	ENST00000393483.3	37	c.1923-1	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141631	0.77775	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4393	0.87561	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSGA10	99001245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.075000	0.64407	2.770000	0.95276	0.650000	0.86243	.	TSGA10	-	-	ENSG00000135951		0.318	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	-	0	43	0	C	NM_182911	Intron	99634813	-1	tier1	-	no_errors	ENST00000355053	ensembl	human	known	74_37	splice_site	17.65	27	6	SNP	1.000	T	T	99634813	C	T	99634813	5	4	120	1	0	0	0	0	0	0	1	0	16665	695	24	3	182	3	TSGA10	2	99634813	Splice_Site	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	28744046	99634813	143564560	26	31557											
LYG1	129530	genome.wustl.edu	37	chr2	99912118	99912118	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggcaaggaggcccagcagcaGccacaatgcagacatgatga	14	3	13	11	0	0	3	0	2	0	1	0	4	0	4	2	3	4	4	2	3	2	0			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:99912118G>T	ENST00000409448.1	-	4	332	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	LYG1_ENST00000308528.4_Missense_Mutation_p.L6M			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	6					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.L6M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCCAGCAGCAGCCACAATGCA	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)											134	139	138					2																	99912118		2203	4300	6503	SO:0001583	missense	0			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.16C>A	2.37:g.99912118G>T	ENSP00000386923:p.Leu6Met		Q53RV9	Missense_Mutation	SNP	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	p.L6M	ENST00000409448.1	37	c.16	CCDS2043.1	2	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923880	0.52653	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.67	4.67	0.58626	.	0.142348	0.32372	N	0.006195	T	0.66982	0.2845	L	0.58101	1.795	0.31872	N	0.61955	D	0.89917	1.0	D	0.91635	0.999	T	0.70230	-0.4929	8	.	.	.	-9.2733	13.2611	0.60106	0.0:0.0:1.0:0.0	.	6	Q8N1E2	LYG1_HUMAN	M	6	.	.	L	-	1	2	LYG1	99278550	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.044000	0.41241	2.587000	0.87381	0.650000	0.86243	CTG	LYG1	-	pirsf_Glyco_hydro_23	ENSG00000144214		0.428	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LYG1	HGNC	protein_coding	OTTHUMT00000330315.1		0	36	0	G	NM_174898		99912118	-1			no_errors	ENST00000308528	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	99912118	G	T	99912118	3	4	120	1	0	0	0	0	1	0	0	0	9140	962	34	3	588	3	LYG1	2	99912118	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	277305	99912118	143287255	27	31558											
IL1B	3553	genome.wustl.edu	37	chr2	113593181	113593181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagcttcaaagaacaagtCatcctcattgccactgtaat	14	11	5	11	0	4	1	4	0	0	1	5	1	5	1	2	0	3	2	2	0	4	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:113593181C>T	ENST00000263341.2	-	3	271	c.61G>A	c.(61-63)Gac>Aac	p.D21N	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	21					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	AAGAACAAGTCATCCTCATTG	0.408																																																	0													135	118	123					2																	113593181		2203	4300	6503	SO:0001583	missense	0			M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"Interleukins and interleukin receptors", "Endogenous ligands"	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.61G>A	2.37:g.113593181C>T	ENSP00000263341:p.Asp21Asn		Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	pfam_IL-1,pfam_IL-1_propep,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_beta,prints_IL-1_alpha/beta,prints_IL-1,prints_IL-1_fam/FGF_fam,prints_IL-1RA/IL-36	p.D21N	ENST00000263341.2	37	c.61	CCDS2102.1	2	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143172	0.37825	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	4.64	1.8	0.24995	Interleukin-1 propeptide (1);	0.825816	0.11362	N	0.571784	T	0.41305	0.1153	L	0.61387	1.9	0.09310	N	1	B	0.23990	0.095	B	0.27608	0.081	T	0.39231	-0.9624	10	0.41790	T	0.15	0.3505	3.5732	0.07925	0.1999:0.5946:0.0:0.2055	.	21	P01584	IL1B_HUMAN	N	21	ENSP00000263341:D21N;ENSP00000407219:D21N;ENSP00000409680:D21N;ENSP00000400854:D21N	ENSP00000263341:D21N	D	-	1	0	IL1B	113309652	0.885000	0.30320	0.321000	0.25320	0.839000	0.47603	0.580000	0.23803	0.648000	0.30732	0.563000	0.77884	GAC	IL1B	-	pfam_IL-1_propep,prints_IL-1_beta	ENSG00000125538		0.408	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1B	HGNC	protein_coding	OTTHUMT00000254125.2	-	0	72	0	C	NM_000576		113593181	-1	tier1	-	no_errors	ENST00000263341	ensembl	human	known	74_37	missense	50.00	21	21	SNP	0.097	T	T	113593181	C	T	113593181	3	4	120	1	0	0	0	0	1	0	0	0	7678	826	29	3	768	3	IL1B	2	113593181	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	13681063	113593181	129606192	28	31559											
IL1B	3553	genome.wustl.edu	37	chr2	113593774	113593774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgacctgtaataagccatCatttcactggcgagctcagg	11	10	9	11	1	3	1	3	1	0	0	3	2	3	1	2	2	2	2	2	2	2	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:113593774C>T	ENST00000263341.2	-	2	243	c.33G>A	c.(31-33)atG>atA	p.M11I	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	11					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	AATAAGCCATCATTTCACTGG	0.473																																																	0													116	100	106					2																	113593774		2203	4300	6503	SO:0001583	missense	0			M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"Interleukins and interleukin receptors", "Endogenous ligands"	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.33G>A	2.37:g.113593774C>T	ENSP00000263341:p.Met11Ile		Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	pfam_IL-1,pfam_IL-1_propep,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_beta,prints_IL-1_alpha/beta,prints_IL-1,prints_IL-1_fam/FGF_fam,prints_IL-1RA/IL-36	p.M11I	ENST00000263341.2	37	c.33	CCDS2102.1	2	.	.	.	.	.	.	.	.	.	.	C	5.135	0.210577	0.09757	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.44	2.6	0.31112	Interleukin-1 propeptide (1);	0.877706	0.10279	N	0.693706	T	0.31888	0.0811	L	0.39566	1.225	0.09310	N	1	B	0.18310	0.027	B	0.19666	0.026	T	0.27331	-1.0077	10	0.23302	T	0.38	0.1814	7.115	0.25411	0.0:0.7902:0.0:0.2098	.	11	P01584	IL1B_HUMAN	I	11	ENSP00000263341:M11I;ENSP00000407219:M11I;ENSP00000409680:M11I;ENSP00000400854:M11I	ENSP00000263341:M11I	M	-	3	0	IL1B	113310245	0.000000	0.05858	0.001000	0.08648	0.672000	0.39443	0.320000	0.19540	0.590000	0.29694	0.655000	0.94253	ATG	IL1B	-	pfam_IL-1_propep	ENSG00000125538		0.473	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1B	HGNC	protein_coding	OTTHUMT00000254125.2	-	0	33	0	C	NM_000576		113593774	-1	tier1	-	no_errors	ENST00000263341	ensembl	human	known	74_37	missense	43.48	13	10	SNP	0.003	T	T	113593774	C	T	113593774	3	4	120	1	0	0	0	0	1	0	0	0	7678	826	29	3	800	3	IL1B	2	113593774	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	593	113593774	129605599	29	31560											
MYO7B	4648	genome.wustl.edu	37	chr2	128350402	128350402	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgtgcctgcggcagctgCgatactcgggcatgatggag	7	8	16	10	3	0	1	0	1	0	0	1	3	0	2	1	3	6	4	1	3	1	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:128350402C>T	ENST00000409816.2	+	16	2058	c.2026C>T	c.(2026-2028)Cga>Tga	p.R676*	MYO7B_ENST00000389524.4_Nonsense_Mutation_p.R676*|MYO7B_ENST00000428314.1_Nonsense_Mutation_p.R676*			Q6PIF6	MYO7B_HUMAN	myosin VIIB	676	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)		GCGGCAGCTGCGATACTCGGG	0.667																																																	0													20	28	25					2																	128350402		2054	4184	6238	SO:0001587	stop_gained	0				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.2026C>T	2.37:g.128350402C>T	ENSP00000386461:p.Arg676*		Q14786|Q8TEE1	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.R676*	ENST00000409816.2	37	c.2026	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.939273	0.99010	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	.	.	.	4.93	4.93	0.64822	.	0.064020	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.494	0.90858	0.0:1.0:0.0:0.0	.	.	.	.	X	676	.	ENSP00000374175:R676X	R	+	1	2	MYO7B	128066872	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.926000	0.56491	2.447000	0.82792	0.655000	0.94253	CGA	MYO7B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000169994		0.667	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	-	0	83	0	C	XM_291001		128350402	1	tier1	-	no_errors	ENST00000389524	ensembl	human	known	74_37	nonsense	25.00	45	15	SNP	1.000	T	T	128350402	C	T	128350402	4	4	120	1	0	0	0	0	0	1	0	0	10121	760	27	1	2088	1	MYO7B	2	128350402	Nonsense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	14756628	128350402	114848971	30	31561											
CXCR4	7852	genome.wustl.edu	37	chr2	136872988	136872988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttggcaaagatgaagtcGggaatagtcagcaggagggc	13	6	16	6	2	1	2	1	1	0	1	2	4	1	4	0	4	1	3	0	4	4	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:136872988G>A	ENST00000241393.3	-	2	614	c.510C>T	c.(508-510)ccC>ccT	p.P170P	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Silent_p.P174P	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	170					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	AGATGAAGTCGGGAATAGTCA	0.527																																																	0													153	132	139					2																	136872988		2203	4300	6503	SO:0001819	synonymous_variant	0			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.510C>T	2.37:g.136872988G>A			B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N_dom,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.P174	ENST00000241393.3	37	c.522	CCDS46420.1	2																																																																																			CXCR4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000121966		0.527	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXCR4	HGNC	protein_coding	OTTHUMT00000331732.1	-	0	58	0	G			136872988	-1	tier1	-	no_errors	ENST00000409817	ensembl	human	known	74_37	silent	42.55	27	20	SNP	0.015	A	A	136872988	G	A	136872988	2	1	120	1	0	0	0	0	0	0	0	1	4102	1103	39	1		1	CXCR4	2	136872988	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	8522586	136872988	106326385	31	31562											
ACVR1C	130399	genome.wustl.edu	37	chr2	158390538	158390538	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacactcacgcattattctCcccatgactcggagtgcctt	9	11	6	15	2	2	1	1	1	1	0	4	2	2	2	3	1	2	1	3	1	2	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:158390538C>T	ENST00000243349.8	-	9	1734	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G	ACVR1C_ENST00000409680.3_Silent_p.G408G|ACVR1C_ENST00000335450.7_Silent_p.G378G|ACVR1C_ENST00000348328.5_Silent_p.G301G	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GCATTATTCTCCCCATGACTC	0.413																																																	0													74	81	79					2																	158390538		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1374G>A	2.37:g.158390538C>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G458	ENST00000243349.8	37	c.1374	CCDS2205.1	2																																																																																			ACVR1C	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000123612		0.413	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1C	HGNC	protein_coding	OTTHUMT00000254924.2	-	0	34	0	C	NM_145259		158390538	-1	tier1	-	no_errors	ENST00000243349	ensembl	human	known	74_37	silent	23.81	16	5	SNP	0.799	T	T	158390538	C	T	158390538	2	4	120	1	0	0	0	0	0	0	0	1	222	842	30	3		3	ACVR1C	2	158390538	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	21517550	158390538	84808835	32	31563											
FAP	2191	genome.wustl.edu	37	chr2	163031461	163031461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagggccagtgatgaaaCgtatcctccataggactgta	12	9	11	9	1	0	2	0	2	0	0	2	3	2	3	3	2	2	3	3	2	5	3	rs141879753	byFrequency	TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:163031461C>T	ENST00000188790.4	-	22	2092	c.1885G>A	c.(1885-1887)Gtt>Att	p.V629I	AC007750.5_ENST00000418968.3_RNA|FAP_ENST00000443424.1_Missense_Mutation_p.V604I	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						AGTGATGAAACGTATCCTCCA	0.418													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		17989	0		0	False		,,,				2504	0																0								C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	117	101	106		1885	3.6	0.9	2	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense	FAP	NM_004460.2	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	629/761	163031461	3,13003	2203	4300	6503	SO:0001583	missense	0			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.1885G>A	2.37:g.163031461C>T	ENSP00000188790:p.Val629Ile			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.V629I	ENST00000188790.4	37	c.1885	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706322	0.48412	2.27E-4	2.33E-4	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.29917	1.55;1.55	5.42	3.63	0.41609	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.057139	0.64402	N	0.000001	T	0.45875	0.1364	M	0.62723	1.935	0.58432	D	0.999992	B;D;B	0.71674	0.08;0.998;0.015	B;P;B	0.61328	0.12;0.887;0.03	T	0.28235	-1.0050	10	0.29301	T	0.29	-24.2985	12.2495	0.54589	0.0:0.8616:0.0:0.1384	.	604;108;629	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	I	629;604	ENSP00000188790:V629I;ENSP00000411391:V604I	ENSP00000188790:V629I	V	-	1	0	FAP	162739707	1.000000	0.71417	0.887000	0.34795	0.832000	0.47134	3.693000	0.54735	0.786000	0.33708	-0.137000	0.14449	GTT	FAP	-	pfam_Peptidase_S9	ENSG00000078098		0.418	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	-	0	50	0	C			163031461	-1	tier1	rs141879753	no_errors	ENST00000188790	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	T	T	163031461	C	T	163031461	3	4	120	1	0	0	0	0	1	0	0	0	5695	536	19	1	417	1	FAP	2	163031461	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	4640923	163031461	80167912	33	31564											
COBLL1	22837	genome.wustl.edu	37	chr2	165559719	165559719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcctgactggaaagcccagGgtgaaaggtttctgccaaag	11	8	12	10	0	1	2	0	2	1	0	2	3	2	3	3	3	2	1	3	3	3	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:165559719G>A	ENST00000392717.2	-	10	1355	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000342193.4_Missense_Mutation_p.P413S|COBLL1_ENST00000375458.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.P479S|COBLL1_ENST00000409184.3_Intron			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	451						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						GAAAGCCCAGGGTGAAAGGTT	0.478																																																	0													94	90	91					2																	165559719		2203	4300	6503	SO:0001583	missense	0			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.1351C>T	2.37:g.165559719G>A	ENSP00000376478:p.Pro451Ser		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom	p.P479S	ENST00000392717.2	37	c.1435		2	.	.	.	.	.	.	.	.	.	.	G	8.141	0.785164	0.16189	.	.	ENSG00000082438	ENST00000342193;ENST00000392717;ENST00000194871	.	.	.	4.77	1.93	0.25924	.	0.326457	0.26851	N	0.022174	T	0.17874	0.0429	L	0.29908	0.895	0.19575	N	0.999967	P	0.42827	0.791	B	0.40864	0.342	T	0.06698	-1.0812	9	0.33940	T	0.23	-2.5093	3.1081	0.06348	0.2577:0.0:0.5422:0.2001	.	479	B7Z2P5	.	S	413;451;479	.	ENSP00000194871:P479S	P	-	1	0	COBLL1	165267965	0.793000	0.28825	0.234000	0.24042	0.012000	0.07955	0.883000	0.28200	0.696000	0.31696	0.650000	0.86243	CCT	COBLL1	-	NULL	ENSG00000082438		0.478	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		-	0	37	0	G	NM_014900		165559719	-1	tier1	-	no_errors	ENST00000194871	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.276	A	A	165559719	G	A	165559719	3	1	120	1	0	0	0	0	1	0	0	0	3661	1232	43	3	2287	3	COBLL1	2	165559719	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	2528258	165559719	77639654	34	31565											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagaaattcacctgtctCttcatctagttgtaactgag	10	14	9	8	0	4	2	2	1	2	1	5	3	4	2	1	1	1	2	1	1	3	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		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)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	20	Substitution - Missense(20)	lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)											147	146	146					2																	178098810		1899	4107	6006	SO:0001583	missense	0				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.235G>C	2.37:g.178098810C>G	ENSP00000380252:p.Glu79Gln		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E79Q	ENST00000397062.3	37	c.235	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647218	0.67358	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	63;79;63;63;63;63;63	ENSP00000380253:E63Q;ENSP00000380252:E79Q;ENSP00000411575:E63Q;ENSP00000391590:E63Q;ENSP00000400073:E63Q;ENSP00000412191:E63Q;ENSP00000410015:E63Q	ENSP00000380252:E79Q	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG	NFE2L2	-	NULL	ENSG00000116044		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0	132	0	C	NM_006164		178098810	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	23.62	97	30	SNP	1.000	G	G	178098810	C	G	178098810	3	3	120	1	0	0	0	0	1	0	0	0	10407	922	32	5	1598	5	NFE2L2	2	178098810	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	12539091	178098810	65100563	35	31566											
TTN	7273	genome.wustl.edu	37	chr2	179486627	179486627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacaggaatattcagcttCatcatccagtagacatttgt	12	14	6	9	0	4	1	4	0	0	1	5	2	5	2	1	1	1	2	1	1	3	6			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:179486627C>T	ENST00000591111.1	-	194	40323	c.40099G>A	c.(40099-40101)Gaa>Aaa	p.E13367K	TTN_ENST00000342175.6_Missense_Mutation_p.E6135K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5943K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6068K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15008K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12440K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13367	Ig-like 89.				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)			TATTCAGCTTCATCATCCAGT	0.398																																																	0													145	134	138					2																	179486627		1942	4138	6080	SO:0001583	missense	0			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.40099G>A	2.37:g.179486627C>T	ENSP00000465570:p.Glu13367Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E12440K	ENST00000591111.1	37	c.37318		2	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187639	0.57909	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.8	5.8	0.92144	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);	.	.	.	.	D	0.84370	0.5457	M	0.83312	2.635	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	D	0.85678	0.1299	9	0.87932	D	0	.	20.0499	0.97621	0.0:1.0:0.0:0.0	.	5943;6068;6135;13367	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	12440;5943;6135;6068;5943	ENSP00000343764:E12440K;ENSP00000434586:E5943K;ENSP00000340554:E6135K;ENSP00000352154:E6068K	ENSP00000340554:E6135K	E	-	1	0	TTN	179194872	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.767000	0.85331	2.734000	0.93682	0.650000	0.86243	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	65	0	C	NM_133378		179486627	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	35.71	45	25	SNP	1.000	T	T	179486627	C	T	179486627	3	4	120	1	0	0	0	0	1	0	0	0	16784	835	29	3	63147	3	TTN	2	179486627	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	1387817	179486627	63712746	36	31567											
HIBCH	26275	genome.wustl.edu	37	chr2	191161574	191161574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctgccgaatcatattaaGagtcagtgcattgaggaact	14	11	9	7	1	3	2	2	1	1	1	3	4	3	3	1	1	3	1	1	1	5	3	rs544400387	byFrequency	TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:191161574G>A	ENST00000359678.5	-	3	478	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	HIBCH_ENST00000392332.3_Missense_Mutation_p.L62F	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	62					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			ATCATATTAAGAGTCAGTGCA	0.363													G|||	2	0.000399361	0	0	5008	,	,		18755	0		0	False		,,,				2504	0.002																0													137	132	134					2																	191161574		2203	4300	6503	SO:0001583	missense	0			U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"3-hydroxyisobutyryl-Coenzyme A hydrolase"			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.184C>T	2.37:g.191161574G>A	ENSP00000352706:p.Leu62Phe		D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.L62F	ENST00000359678.5	37	c.184	CCDS2304.1	2	.	.	.	.	.	.	.	.	.	.	G	7.090	0.571914	0.13623	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.73152	-0.32;-0.72;-0.32	5.33	-2.75	0.05914	Crotonase, core (1);	0.310767	0.35525	N	0.003147	T	0.59459	0.2195	M	0.68593	2.085	0.31953	N	0.60942	B;B	0.29253	0.239;0.093	B;B	0.34418	0.182;0.061	T	0.50800	-0.8785	10	0.35671	T	0.21	-1.6272	2.2134	0.03954	0.371:0.1148:0.3967:0.1175	.	62;62	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	F	62;62;116	ENSP00000376144:L62F;ENSP00000352706:L62F;ENSP00000387247:L116F	ENSP00000352706:L62F	L	-	1	0	HIBCH	190869819	0.015000	0.18098	0.001000	0.08648	0.162000	0.22319	-0.129000	0.10515	-0.533000	0.06323	-0.743000	0.03520	CTT	HIBCH	-	pfam_Crotonase_core_superfam	ENSG00000198130		0.363	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIBCH	HGNC	protein_coding	OTTHUMT00000255933.1	-	0	87	0	G			191161574	-1	tier1	-	no_errors	ENST00000359678	ensembl	human	known	74_37	missense	20.00	60	15	SNP	0.148	A	A	191161574	G	A	191161574	3	1	120	1	0	0	0	0	1	0	0	0	7127	942	33	3	1024	3	HIBCH	2	191161574	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	11674947	191161574	52037799	37	31568											
STK17B	9262	genome.wustl.edu	37	chr2	197010768	197010768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacacaggctgaaaatttctCcacctgcagcactaaaataa	17	8	5	11	0	1	1	0	1	1	0	2	1	1	1	2	1	3	3	2	1	6	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:197010768C>T	ENST00000263955.4	-	4	633	c.347G>A	c.(346-348)gGa>gAa	p.G116E	STK17B_ENST00000409228.1_Missense_Mutation_p.G116E	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|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)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GAAAATTTCTCCACCTGCAGC	0.313																																																	0													53	51	51					2																	197010768		2203	4300	6503	SO:0001583	missense	0			AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"death-associated protein kinase-related 2"	604727	"serine/threonine kinase 17b (apoptosis-inducing)"			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.347G>A	2.37:g.197010768C>T	ENSP00000263955:p.Gly116Glu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G116E	ENST00000263955.4	37	c.347	CCDS2315.1	2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647176	0.87958	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.61274	0.12;0.12	4.79	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000166	T	0.80555	0.4645	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84515	0.0624	10	0.87932	D	0	.	18.3895	0.90477	0.0:1.0:0.0:0.0	.	116	O94768	ST17B_HUMAN	E	116	ENSP00000263955:G116E;ENSP00000386853:G116E	ENSP00000263955:G116E	G	-	2	0	STK17B	196719013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.179000	0.77665	2.661000	0.90470	0.655000	0.94253	GGA	STK17B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000081320		0.313	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17B	HGNC	protein_coding	OTTHUMT00000256092.2	-	0	29	0	C			197010768	-1	tier1	-	no_errors	ENST00000263955	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	T	T	197010768	C	T	197010768	3	4	120	1	0	0	0	0	1	0	0	0	15338	855	30	3	791	3	STK17B	2	197010768	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	5849194	197010768	46188605	38	31569											
SATB2	23314	genome.wustl.edu	37	chr2	200246514	200246514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcacataactgagggggaGagggttccaccttcccagct	9	9	12	11	0	1	2	1	1	0	1	3	3	3	2	3	3	2	2	3	3	1	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:200246514G>C	ENST00000417098.1	-	4	1192	c.376C>G	c.(376-378)Ctc>Gtc	p.L126V	SATB2_ENST00000260926.5_Missense_Mutation_p.L126V|SATB2_ENST00000457245.1_Missense_Mutation_p.L126V|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000443023.1_Missense_Mutation_p.L67V|SATB2_ENST00000484124.1_5'UTR	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	126					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						CTGAGGGGGAGAGGGTTCCAC	0.428																																					Colon(30;262 767 11040 24421 36230)												0													91	86	87					2																	200246514		2203	4300	6503	SO:0001583	missense	0			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.376C>G	2.37:g.200246514G>C	ENSP00000401112:p.Leu126Val		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.L126V	ENST00000417098.1	37	c.376	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	G	3.834	-0.035171	0.07543	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	N	0.13168	0.305	0.47994	D	0.999568	B	0.19445	0.036	B	0.26517	0.07	T	0.57323	-0.7831	10	0.07175	T	0.84	-17.124	19.9759	0.97304	0.0:0.0:1.0:0.0	.	126	Q9UPW6	SATB2_HUMAN	V	126;67;126;126	ENSP00000401112:L126V;ENSP00000388764:L67V;ENSP00000260926:L126V;ENSP00000405420:L126V	ENSP00000260926:L126V	L	-	1	0	SATB2	199954759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.756000	0.55205	2.713000	0.92767	0.655000	0.94253	CTC	SATB2	-	NULL	ENSG00000119042		0.428	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	-	0	40	0	G	NM_015265		200246514	-1	tier1	-	no_errors	ENST00000260926	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	C	C	200246514	G	C	200246514	3	2	120	1	0	0	0	0	1	0	0	0	13899	942	33	5	1857	5	SATB2	2	200246514	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	3235746	200246514	42952859	39	31570											
CASP8	841	genome.wustl.edu	37	chr2	202149834	202149834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagggggataactaccaGaaaggtatacctgttgagac	13	9	12	7	0	1	2	1	1	0	2	1	4	1	3	2	3	3	2	2	3	5	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:202149834G>T	ENST00000432109.2	+	9	1287	c.1098G>T	c.(1096-1098)caG>caT	p.Q366H	CASP8_ENST00000323492.7_Missense_Mutation_p.Q351H|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.Q383H|CASP8_ENST00000358485.4_Missense_Mutation_p.Q425H|CASP8_ENST00000264274.9_Missense_Mutation_p.Q282H	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	366					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATAACTACCAGAAAGGTATAC	0.433										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													87	89	88					2																	202149834		2203	4300	6503	SO:0001583	missense	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1098G>T	2.37:g.202149834G>T	ENSP00000412523:p.Gln366His		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.Q425H	ENST00000432109.2	37	c.1275	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603784	0.28534	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.82	-0.693	0.11298	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.284092	0.41001	D	0.000961	T	0.68988	0.3061	L	0.57130	1.785	0.51012	D	0.999908	B;B;B;B;B	0.33739	0.287;0.331;0.071;0.422;0.171	B;B;B;B;B	0.33846	0.028;0.049;0.06;0.171;0.071	T	0.57359	-0.7825	10	0.46703	T	0.11	.	1.5192	0.02512	0.1981:0.3036:0.3025:0.1957	.	282;425;366;351;383	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	H	351;282;366;383;425;351;145	ENSP00000376091:Q351H;ENSP00000264274:Q282H;ENSP00000412523:Q366H;ENSP00000264275:Q383H;ENSP00000351273:Q425H;ENSP00000325722:Q351H;ENSP00000394434:Q145H	ENSP00000264274:Q282H	Q	+	3	2	CASP8	201858079	0.860000	0.29831	0.578000	0.28575	0.860000	0.49131	1.511000	0.35801	-0.121000	0.11787	0.561000	0.74099	CAG	CASP8	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core	ENSG00000064012		0.433	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	-	0	41	0	G	NM_001228		202149834	1	tier1	-	no_errors	ENST00000358485	ensembl	human	known	74_37	missense	57.14	9	12	SNP	0.002	T	T	202149834	G	T	202149834	3	4	120	1	0	0	0	0	1	0	0	0	2684	933	33	3	1405	3	CASP8	2	202149834	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	1903320	202149834	41049539	40	31571											
CASP8	841	genome.wustl.edu	37	chr2	202149919	202149919	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcaaacgagatatatcccgGatgaggctgactttctgctg	10	11	10	10	2	2	3	1	2	1	1	3	5	3	4	1	2	2	2	1	2	3	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:202149919G>C	ENST00000432109.2	+	9	1372	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	CASP8_ENST00000323492.7_Missense_Mutation_p.D380H|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.D412H|CASP8_ENST00000358485.4_Missense_Mutation_p.D454H|CASP8_ENST00000264274.9_Missense_Mutation_p.D311H	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	395					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.D412N(1)|p.D454N(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATATATCCCGGATGAGGCTGA	0.473										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												2	Substitution - Missense(2)	skin(2)											68	64	65					2																	202149919		2203	4300	6503	SO:0001583	missense	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1183G>C	2.37:g.202149919G>C	ENSP00000412523:p.Asp395His		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.D454H	ENST00000432109.2	37	c.1360	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	G	9.792	1.178120	0.21787	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.64	4.75	0.60458	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.695120	0.14912	N	0.291163	T	0.33206	0.0855	L	0.50847	1.595	0.09310	N	0.999999	D;D;B;B;D	0.71674	0.998;0.991;0.25;0.158;0.991	P;P;B;B;P	0.61940	0.896;0.69;0.042;0.039;0.773	T	0.13926	-1.0491	10	0.51188	T	0.08	.	6.9374	0.24474	0.1462:0.0:0.7122:0.1417	.	311;454;395;380;412	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	H	380;311;395;412;454;380;174	ENSP00000376091:D380H;ENSP00000264274:D311H;ENSP00000412523:D395H;ENSP00000264275:D412H;ENSP00000351273:D454H;ENSP00000325722:D380H;ENSP00000394434:D174H	ENSP00000264274:D311H	D	+	1	0	CASP8	201858164	0.000000	0.05858	0.973000	0.42090	0.523000	0.34469	0.705000	0.25675	2.655000	0.90218	0.561000	0.74099	GAT	CASP8	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10	ENSG00000064012		0.473	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	-	0	54	0	G	NM_001228		202149919	1	tier1	-	no_errors	ENST00000358485	ensembl	human	known	74_37	missense	47.22	19	17	SNP	0.004	C	C	202149919	G	C	202149919	3	2	120	1	0	0	0	0	1	0	0	0	2684	1174	41	5	1490	5	CASP8	2	202149919	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	85	202149919	41049454	41	31572											
COL4A3	1285	genome.wustl.edu	37	chr2	228111451	228111451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acactgggctacccagggatCccggtaggtttgcatgccta	8	9	12	12	1	0	0	0	0	0	0	1	1	1	1	3	4	3	4	3	4	3	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:228111451C>T	ENST00000396578.3	+	7	600	c.438C>T	c.(436-438)atC>atT	p.I146I	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)	146	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)		ACCCAGGGATCCCGGTAGGTT	0.438																																																	0													63	62	62					2																	228111451		1841	4086	5927	SO:0001819	synonymous_variant	0				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.438C>T	2.37:g.228111451C>T			Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.I146	ENST00000396578.3	37	c.438	CCDS42829.1	2																																																																																			COL4A3	-	pfam_Collagen	ENSG00000169031		0.438	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	-	0	48	0	C	NM_000091		228111451	1	tier1	-	no_errors	ENST00000396578	ensembl	human	known	74_37	silent	25.00	45	15	SNP	0.785	T	T	228111451	C	T	228111451	2	4	120	1	0	0	0	0	0	0	0	1	3698	845	30	3		3	COL4A3	2	228111451	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	25961532	228111451	15087922	42	31573											
NGEF	25791	genome.wustl.edu	37	chr2	233752783	233752783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaaagcagtgcactccCgctcagacctctcttctacc	9	9	5	18	1	3	1	1	0	2	1	6	1	5	1	4	0	3	3	4	0	2	2	rs572634482		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:233752783C>T	ENST00000264051.3	-	9	1585	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q	NGEF_ENST00000539537.1_Missense_Mutation_p.R159Q|NGEF_ENST00000373552.4_Missense_Mutation_p.R344Q	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	436	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		AGTGCACTCCCGCTCAGACCT	0.493													C|||	1	0.000199681	0	0	5008	,	,		22086	0		0	False		,,,				2504	0.001																0													185	155	165					2																	233752783		2203	4300	6503	SO:0001583	missense	0			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1307G>A	2.37:g.233752783C>T	ENSP00000264051:p.Arg436Gln		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R436Q	ENST00000264051.3	37	c.1307	CCDS2500.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.09|18.09	3.545124|3.545124	0.65198|0.65198	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000424488|ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114	.|T;T;T;T	.|0.29142	.|1.58;1.58;1.58;1.58	5.21|5.21	4.33|4.33	0.51752|0.51752	.|Dbl homology (DH) domain (5);	.|0.136513	.|0.53938	.|D	.|0.000044	T|T	0.42743|0.42743	0.1216|0.1216	L|L	0.37800|0.37800	1.135|1.135	0.37605|0.37605	D|D	0.920726|0.920726	.|D;D	.|0.76494	.|0.991;0.999	.|P;D	.|0.66196	.|0.739;0.942	T|T	0.45483|0.45483	-0.9258|-0.9258	5|10	.|0.46703	.|T	.|0.11	-17.1153|-17.1153	13.704|13.704	0.62627|0.62627	0.0:0.9254:0.0:0.0746|0.0:0.9254:0.0:0.0746	.|.	.|344;436	.|E9PC42;Q8N5V2	.|.;NGEF_HUMAN	R|Q	28|436;344;326;159;159	.|ENSP00000264051:R436Q;ENSP00000362653:R344Q;ENSP00000439035:R159Q;ENSP00000401063:R159Q	.|ENSP00000264051:R436Q	G|R	-|-	1|2	0|0	NGEF|NGEF	233461027|233461027	0.364000|0.364000	0.24997|0.24997	0.732000|0.732000	0.30844|0.30844	0.960000|0.960000	0.62799|0.62799	1.139000|1.139000	0.31504|0.31504	1.211000|1.211000	0.43351|0.43351	0.537000|0.537000	0.68136|0.68136	GGG|CGG	NGEF	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000066248		0.493	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	HGNC	protein_coding	OTTHUMT00000257051.2	-	0	89	0	C	XM_044799		233752783	-1	tier1	-	no_errors	ENST00000264051	ensembl	human	known	74_37	missense	24.73	70	23	SNP	0.636	T	T	233752783	C	T	233752783	3	4	120	1	0	0	0	0	1	0	0	0	10433	652	23	1	853	1	NGEF	2	233752783	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	5641332	233752783	9446590	43	31574											
HDAC4	9759	genome.wustl.edu	37	chr2	239975285	239975285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttgtgcgctgcaggcagCgccagtacttgcctggggtg	5	9	17	10	2	0	0	0	0	0	0	0	0	0	0	2	4	5	5	2	4	1	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr2:239975285C>G	ENST00000345617.3	-	26	3877	c.3086G>C	c.(3085-3087)cGc>cCc	p.R1029P	HDAC4_ENST00000543185.1_Missense_Mutation_p.R613P	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1029	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CTGCAGGCAGCGCCAGTACTT	0.632																																																	0													29	33	32					2																	239975285		2203	4300	6503	SO:0001583	missense	0			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.3086G>C	2.37:g.239975285C>G	ENSP00000264606:p.Arg1029Pro		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.R1029P	ENST00000345617.3	37	c.3086	CCDS2529.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.327|3.327	-0.137400|-0.137400	0.06711|0.06711	.|.	.|.	ENSG00000068024|ENSG00000068024	ENST00000430200|ENST00000345617;ENST00000456922;ENST00000543185	.|T;T	.|0.46451	.|0.87;0.87	4.38|4.38	4.38|4.38	0.52667|0.52667	.|Histone deacetylase domain (1);Arb2 domain (1);	.|0.176210	.|0.51477	.|D	.|0.000089	T|T	0.20292|0.20292	0.0488|0.0488	N|N	0.16602|0.16602	0.42|0.42	0.41281|0.41281	D|D	0.986918|0.986918	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.10450	.|0.001;0.005	T|T	0.12091|0.12091	-1.0561|-1.0561	5|10	.|0.02654	.|T	.|1	.|.	7.0307|7.0307	0.24965|0.24965	0.0:0.8378:0.0:0.1622|0.0:0.8378:0.0:0.1622	.|.	.|997;1029	.|Q53SM2;P56524	.|.;HDAC4_HUMAN	P|P	120|1029;917;613	.|ENSP00000264606:R1029P;ENSP00000440481:R613P	.|ENSP00000264606:R1029P	A|R	-|-	1|2	0|0	HDAC4|HDAC4	239640222|239640222	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.806000|0.806000	0.45545|0.45545	2.232000|2.232000	0.43018|0.43018	2.150000|2.150000	0.67090|0.67090	0.650000|0.650000	0.86243|0.86243	GCT|CGC	HDAC4	-	pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.632	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	-	0	103	0	C	NM_006037		239975285	-1	tier1	-	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	48.98	50	48	SNP	1.000	G	G	239975285	C	G	239975285	3	3	120	1	0	0	0	0	1	0	0	0	7036	768	27	5	176	5	HDAC4	2	239975285	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	6222502	239975285	3224088	44	31575											
TRAK1	22906	genome.wustl.edu	37	chr3	42265157	42265157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggatctagcatgcagatGaaagctcctgtgactctcac	10	10	11	10	0	2	3	1	2	2	1	4	4	3	4	1	1	3	3	1	1	2	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr3:42265157G>A	ENST00000327628.5	+	16	3190	c.2790G>A	c.(2788-2790)atG>atA	p.M930I	TRAK1_ENST00000396175.1_Missense_Mutation_p.M872I|RNU4-78P_ENST00000410940.1_RNA|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	930					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCATGCAGATGAAAGCTCCTG	0.582																																					GBM(44;195 884 22595 31865 41850)												0													58	65	63					3																	42265157		2023	4184	6207	SO:0001583	missense	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2790G>A	3.37:g.42265157G>A	ENSP00000328998:p.Met930Ile		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.M872I	ENST00000327628.5	37	c.2616	CCDS43072.1	3	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670094	0.47677	.	.	ENSG00000182606	ENST00000327628;ENST00000396175	T;T	0.09911	2.94;2.93	5.04	4.14	0.48551	.	0.046579	0.85682	N	0.000000	T	0.08626	0.0214	N	0.24115	0.695	0.80722	D	1	B;B	0.22276	0.067;0.067	B;B	0.15052	0.012;0.012	T	0.15435	-1.0437	10	0.40728	T	0.16	.	14.5204	0.67847	0.0:0.1473:0.8526:0.0	.	872;930	C9JC32;Q9UPV9	.;TRAK1_HUMAN	I	930;872	ENSP00000328998:M930I;ENSP00000379478:M872I	ENSP00000328998:M930I	M	+	3	0	TRAK1	42240161	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	8.938000	0.92943	1.329000	0.45376	0.655000	0.94253	ATG	TRAK1	-	NULL	ENSG00000182606		0.582	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	-	0	43	0	G	NM_014965		42265157	1	tier1	-	no_errors	ENST00000396175	ensembl	human	known	74_37	missense	50.00	12	12	SNP	1.000	A	A	42265157	G	A	42265157	3	1	120	1	0	0	0	0	1	0	0	0	16497	1290	45	3	3240	3	TRAK1	3	42265157	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		42265157	155757273	45	31576											
NT5DC2	64943	genome.wustl.edu	37	chr3	52559074	52559074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggatctcacgctccagctCggggatgatggcgcctgtgc	5	8	15	13	4	1	1	1	1	1	0	4	3	2	3	2	4	2	2	2	4	0	0			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr3:52559074C>T	ENST00000307076.4	-	12	1541	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	NT5DC2_ENST00000422318.2_Missense_Mutation_p.E418K|NT5DC2_ENST00000307092.4_Missense_Mutation_p.E322K|NT5DC2_ENST00000459839.1_Missense_Mutation_p.E393K	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	381							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CGCTCCAGCTCGGGGATGATG	0.682																																																	0													13	13	13					3																	52559074		2181	4293	6474	SO:0001583	missense	0			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1141G>A	3.37:g.52559074C>T	ENSP00000302468:p.Glu381Lys		C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.E418K	ENST00000307076.4	37	c.1252	CCDS2858.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.290981	0.95546	.	.	ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.12	4.23	0.50019	HAD-like domain (1);	0.102268	0.64402	D	0.000002	D	0.90707	0.7084	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.991;0.995	D	0.93125	0.6528	10	0.87932	D	0	-39.5043	15.5917	0.76534	0.0:0.8616:0.1384:0.0	.	393;381;418	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	K	322;95;381;418;393	ENSP00000306017:E322K;ENSP00000418780:E95K;ENSP00000302468:E381K;ENSP00000406933:E418K;ENSP00000419547:E393K	ENSP00000302468:E381K	E	-	1	0	NT5DC2	52534114	1.000000	0.71417	0.974000	0.42286	0.692000	0.40212	7.707000	0.84623	1.137000	0.42214	0.491000	0.48974	GAG	NT5DC2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	ENSG00000168268		0.682	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	HGNC	protein_coding	OTTHUMT00000351509.1	-	0	13	0	C	NM_022908		52559074	-1	tier1	-	no_errors	ENST00000422318	ensembl	human	known	74_37	missense	57.14	3	4	SNP	0.999	T	T	52559074	C	T	52559074	3	4	120	1	0	0	0	0	1	0	0	0	10730	893	31	1	433	1	NT5DC2	3	52559074	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	10293917	52559074	145463356	46	31577											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64636815	64636815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttctttacatttgttGttgtcatcatgaggcatgtt	6	20	7	8	0	4	1	2	1	2	0	4	1	4	1	1	1	1	4	1	1	1	8			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr3:64636815G>T	ENST00000498707.1	-	9	1683	c.1341C>A	c.(1339-1341)aaC>aaA	p.N447K	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.N419K|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.N447K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	447	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TACATTTGTTGTTGTCATCAT	0.423																																																	0													197	174	182					3																	64636815		2203	4300	6503	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1341C>A	3.37:g.64636815G>T	ENSP00000418735:p.Asn447Lys		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.N447K	ENST00000498707.1	37	c.1341	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998967	0.54147	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	D;D;D	0.86769	-2.17;-2.17;-2.17	5.89	5.01	0.66863	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.216401	0.47093	D	0.000244	D	0.82944	0.5147	L	0.39085	1.19	0.37040	D	0.897083	B;B;B;B	0.31949	0.277;0.234;0.348;0.066	B;B;B;B	0.38378	0.201;0.272;0.22;0.099	D	0.83792	0.0231	10	0.46703	T	0.11	.	11.6325	0.51185	0.1321:0.0:0.8679:0.0	.	419;447;447;447	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	K	419;447;447	ENSP00000295903:N419K;ENSP00000418735:N447K;ENSP00000419217:N447K	ENSP00000295903:N419K	N	-	3	2	ADAMTS9	64611855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.837000	0.39201	2.788000	0.95919	0.585000	0.79938	AAC	ADAMTS9	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000163638		0.423	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0	54	0	G			64636815	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	50.00	16	16	SNP	1.000	T	T	64636815	G	T	64636815	3	4	120	1	0	0	0	0	1	0	0	0	273	1368	48	3	4590	3	ADAMTS9	3	64636815	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	12077741	64636815	133385615	47	31578											
MORC1	27136	genome.wustl.edu	37	chr3	108776315	108776315	+	Missense_Mutation	SNP	T	T	G	0	1	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	ccatagaacagggagagcgtTcttgctgtttttaattctct	9	15	9	8	1	2	2	0	0	2	2	3	3	2	2	1	1	3	3	1	1	3	7			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr3:108776315T>G	ENST00000483760.1	-	13	1093	c.1050A>C	c.(1048-1050)agA>agC	p.R350S	MORC1_ENST00000232603.5_Missense_Mutation_p.R350S					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGGAGAGCGTTCTTGCTGTTT	0.318																																																	0													95	88	91					3																	108776315		2203	4300	6503	SO:0001583	missense	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1050A>C	3.37:g.108776315T>G	ENSP00000417282:p.Arg350Ser			Missense_Mutation	SNP	pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.R350S	ENST00000483760.1	37	c.1050		3	.	.	.	.	.	.	.	.	.	.	T	9.306	1.054260	0.19907	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05649	3.41;3.41	4.3	2.08	0.27032	.	1.064490	0.07330	N	0.879028	T	0.07728	0.0194	M	0.63428	1.95	0.25197	N	0.990084	P;B	0.43094	0.799;0.147	B;B	0.35931	0.214;0.024	T	0.35201	-0.9798	10	0.62326	D	0.03	-8.1024	5.3297	0.15926	0.0:0.3312:0.0:0.6688	.	350;350	E7ERX1;Q86VD1	.;MORC1_HUMAN	S	350	ENSP00000232603:R350S;ENSP00000417282:R350S	ENSP00000232603:R350S	R	-	3	2	MORC1	110259005	1.000000	0.71417	0.998000	0.56505	0.251000	0.25915	1.512000	0.35812	0.858000	0.35431	0.528000	0.53228	AGA	MORC1	-	NULL	ENSG00000114487		0.318	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1		0	23	0	T			108776315	-1			no_errors	ENST00000232603	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.999	G	G	108776315	T	G	108776315	3	3	120	1	0	0	0	0	1	0	0	0	9739	1780	62	4	1968	4	MORC1	3	108776315	Missense_Mutation	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	44139500	108776315	89246115	48	31579											
EAF2	55840	genome.wustl.edu	37	chr3	121591519	121591519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattgcaaatcctctacttCtgatacagggaattgtgtct	11	14	8	8	0	3	2	0	1	3	1	4	3	4	3	1	1	3	1	1	1	4	5	rs200859609	byFrequency	TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr3:121591519C>G	ENST00000273668.2	+	5	691	c.620C>G	c.(619-621)tCt>tGt	p.S207C	EAF2_ENST00000451944.2_Missense_Mutation_p.S207C	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	207	Necessary for transactivation activity.|Ser-rich.				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)		TCCTCTACTTCTGATACAGGG	0.398																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)												0													114	107	109					3																	121591519		2203	4300	6503	SO:0001583	missense	0			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.620C>G	3.37:g.121591519C>G	ENSP00000273668:p.Ser207Cys		Q9NZ82	Missense_Mutation	SNP	pfam_Tscrpt_elong_fac_Eaf_N	p.S207C	ENST00000273668.2	37	c.620	CCDS3006.1	3	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453355	0.26161	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	4.75	3.86	0.44501	.	0.553824	0.18969	N	0.126177	T	0.45276	0.1334	M	0.61703	1.905	0.09310	N	1	D	0.60575	0.988	P	0.46975	0.533	T	0.40496	-0.9560	9	0.62326	D	0.03	-0.0485	11.1447	0.48424	0.0:0.9077:0.0:0.0922	.	207	Q96CJ1	EAF2_HUMAN	C	207	.	ENSP00000273668:S207C	S	+	2	0	EAF2	123074209	0.410000	0.25376	0.077000	0.20336	0.070000	0.16714	3.332000	0.52083	1.186000	0.42985	0.313000	0.20887	TCT	EAF2	-	NULL	ENSG00000145088		0.398	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAF2	HGNC	protein_coding	OTTHUMT00000355247.1	-	0	37	0	C	NM_018456		121591519	1	tier1	-	no_errors	ENST00000273668	ensembl	human	known	74_37	missense	35.48	19	11	SNP	0.129	G	G	121591519	C	G	121591519	3	3	120	1	0	0	0	0	1	0	0	0	4890	913	32	5	638	5	EAF2	3	121591519	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	12815204	121591519	76430911	49	31580											
FAM162A	26355	genome.wustl.edu	37	chr3	122121698	122121698	+	Silent	SNP	A	A	C	1	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	agaataaatggattttgcacAaaaccacaggaaagtcccgg	17	7	9	8	1	0	1	0	0	0	1	1	3	1	3	2	3	2	1	2	3	6	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr3:122121698A>C	ENST00000477892.1	+	2	210	c.126A>C	c.(124-126)acA>acC	p.T42T	FAM162A_ENST00000232125.5_Silent_p.T32T|FAM162A_ENST00000469967.1_Silent_p.T42T	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	42					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						GATTTTGCACAAAACCACAGG	0.378																																																	0													85	80	82					3																	122121698		1831	4073	5904	SO:0001819	synonymous_variant	0			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.126A>C	3.37:g.122121698A>C			Q9NRN6|Q9UJX8	Silent	SNP	pfam_DUF1075	p.T42	ENST00000477892.1	37	c.126	CCDS43139.1	3																																																																																			FAM162A	-	pfam_DUF1075	ENSG00000114023		0.378	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM162A	HGNC	protein_coding	OTTHUMT00000355766.1	-	0	54	0	A	NM_014367		122121698	1	tier1	-	no_errors	ENST00000477892	ensembl	human	known	74_37	silent	17.31	43	9	SNP	0.916	C	C	122121698	A	C	122121698	2	2	120	1	0	0	0	0	0	0	0	1	5493	117	5	4		4	FAM162A	3	122121698	Silent	SNP	A	TCGA-LN-A4MR-01A-11D-A28B-09	530179	122121698	75900732	50	31581											
PTPLB	201562	genome.wustl.edu	37	chr3	123301073	123301073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacctccaataaggctcCagtttgaaagaatttcaaag	15	10	6	10	0	1	2	1	1	0	1	3	2	3	2	4	1	1	2	4	1	6	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr3:123301073C>T	ENST00000383657.5	-	2	416	c.259G>A	c.(259-261)Gga>Aga	p.G87R		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	87					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		AATAAGGCTCCAGTTTGAAAG	0.388																																																	0													44	40	41					3																	123301073		1815	4075	5890	SO:0001583	missense	0			AK074605	CCDS46895.1	3q21.1	2010-04-30			ENSG00000206527	ENSG00000206527			9640	protein-coding gene	gene with protein product		615939				15024066	Standard	NM_198402		Approved		uc003egj.2	Q6Y1H2	OTTHUMG00000159529	ENST00000383657.5:c.259G>A	3.37:g.123301073C>T	ENSP00000373153:p.Gly87Arg			Missense_Mutation	SNP	pfam_Tyr_Pase-like_PTPLA	p.G87R	ENST00000383657.5	37	c.259	CCDS46895.1	3	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168012	0.78339	.	.	ENSG00000206527	ENST00000383657	T	0.29655	1.56	5.76	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	M	0.64170	1.965	0.80722	D	1	P	0.47677	0.899	P	0.51657	0.676	T	0.28870	-1.0030	10	0.36615	T	0.2	-12.2845	14.7027	0.69166	0.0:0.9303:0.0:0.0697	.	87	Q6Y1H2	HACD2_HUMAN	R	87	ENSP00000373153:G87R	ENSP00000373153:G87R	G	-	1	0	PTPLB	124783763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.259000	0.78381	1.436000	0.47453	0.591000	0.81541	GGA	PTPLB	-	pfam_Tyr_Pase-like_PTPLA	ENSG00000206527		0.388	PTPLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLB	HGNC	protein_coding	OTTHUMT00000356021.3	-	0	19	0	C	NM_198402		123301073	-1	tier1	-	no_errors	ENST00000383657	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	T	T	123301073	C	T	123301073	3	4	120	1	0	0	0	0	1	0	0	0	12820	603	21	3	529	3	PTPLB	3	123301073	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	1179375	123301073	74721357	51	31582											
GFM1	85476	genome.wustl.edu	37	chr3	158363966	158363966	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtttaggtgaaaggtaaaGatggagttggtgctgtcatg	10	13	16	2	0	1	2	1	1	0	1	1	3	1	3	0	4	1	4	0	4	4	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr3:158363966G>C	ENST00000486715.1	+	3	604	c.247G>C	c.(247-249)Gat>Cat	p.D83H	GFM1_ENST00000478576.1_Missense_Mutation_p.D83H|GFM1_ENST00000264263.5_Missense_Mutation_p.D83H	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)			GAAAGGTAAAGATGGAGTTGG	0.418																																																	0													163	152	156					3																	158363966		2203	4300	6503	SO:0001583	missense	0			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.247G>C	3.37:g.158363966G>C	ENSP00000419038:p.Asp83His			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.D83H	ENST00000486715.1	37	c.247	CCDS33885.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.860101|4.860101	0.91433|0.91433	.|.	.|.	ENSG00000168827|ENSG00000079257	ENST00000486715;ENST00000478576;ENST00000264263;ENST00000464732|ENST00000482640	T;T;T;T|.	0.71579|.	-0.58;-0.58;-0.58;-0.53|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87617|0.87617	0.6222|0.6222	H|H	0.94462|0.94462	3.54|3.54	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	0.90687|0.90687	0.4610|0.4610	10|5	0.87932|.	D|.	0|.	-8.9786|-8.9786	19.4895|19.4895	0.95044|0.95044	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	83;83|.	Q96RP9;C9IZ01|.	EFGM_HUMAN;.|.	H|V	83;83;83;8|132	ENSP00000419038:D83H;ENSP00000418755:D83H;ENSP00000264263:D83H;ENSP00000417532:D8H|.	ENSP00000264263:D83H|.	D|L	+|-	1|1	0|0	GFM1|LXN	159846660|159846660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.336000|9.336000	0.96533|0.96533	2.596000|2.596000	0.87737|0.87737	0.655000|0.655000	0.94253|0.94253	GAT|CTT	GFM1	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	ENSG00000168827		0.418	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	HGNC	protein_coding	OTTHUMT00000352271.1	-	0	95	0	G	NM_024996		158363966	1	tier1	-	no_errors	ENST00000486715	ensembl	human	known	74_37	missense	25.90	103	36	SNP	1.000	C	C	158363966	G	C	158363966	3	2	120	1	0	0	0	0	1	0	0	0	6367	942	33	5	257	5	GFM1	3	158363966	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	35062893	158363966	39658464	52	31583											
B3GNT5	84002	genome.wustl.edu	37	chr3	182987961	182987961	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcagctgaatgccaacatCaaaactctgtttgccttagg	11	12	7	11	0	3	1	2	1	2	0	4	1	3	1	2	1	5	2	2	1	5	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr3:182987961C>G	ENST00000326505.3	+	2	905	c.375C>G	c.(373-375)atC>atG	p.I125M	B3GNT5_ENST00000465010.1_Missense_Mutation_p.I125M|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.I125M|MCF2L2_ENST00000473233.1_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	125					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATGCCAACATCAAAACTCTGT	0.413																																																	0													69	71	70					3																	182987961		2203	4300	6503	SO:0001583	missense	0			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"Beta 3-glycosyltransferases"	15684	protein-coding gene	gene with protein product	"lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.375C>G	3.37:g.182987961C>G	ENSP00000316173:p.Ile125Met		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	pfam_Glyco_trans_31,superfamily_Luciferase-like_dom	p.I125M	ENST00000326505.3	37	c.375	CCDS3244.1	3	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228588	0.58777	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.49720	0.77;0.77;0.77	5.91	2.73	0.32206	.	0.124608	0.53938	D	0.000053	T	0.60702	0.2289	M	0.82517	2.595	0.41042	D	0.985234	D	0.58620	0.983	P	0.60012	0.867	T	0.61402	-0.7070	10	0.62326	D	0.03	.	4.3736	0.11260	0.1544:0.488:0.0:0.3576	.	125	Q9BYG0	B3GN5_HUMAN	M	125	ENSP00000316173:I125M;ENSP00000420778:I125M;ENSP00000417868:I125M	ENSP00000316173:I125M	I	+	3	3	B3GNT5	184470655	0.997000	0.39634	1.000000	0.80357	0.896000	0.52359	0.326000	0.19646	0.840000	0.34995	0.650000	0.86243	ATC	B3GNT5	-	pfam_Glyco_trans_31	ENSG00000176597		0.413	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT5	HGNC	protein_coding	OTTHUMT00000351009.1	-	0	33	0	C	NM_032047		182987961	1	tier1	-	no_errors	ENST00000326505	ensembl	human	known	74_37	missense	34.88	28	15	SNP	0.995	G	G	182987961	C	G	182987961	3	3	120	1	0	0	0	0	1	0	0	0	1261	816	29	5	377	5	B3GNT5	3	182987961	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	24623995	182987961	15034469	53	31584											
CD38	952	genome.wustl.edu	37	chr4	15780234	15780234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcccgagaccgtcctggcgcGatgcgtcaagtacactgaaa	10	7	11	13	5	1	2	1	1	0	1	3	4	3	2	3	1	2	1	3	1	3	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr4:15780234G>C	ENST00000226279.3	+	1	334	c.197G>C	c.(196-198)cGa>cCa	p.R66P		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	66					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GTCCTGGCGCGATGCGTCAAG	0.672																																																	0													70	72	71					4																	15780234		2203	4300	6503	SO:0001583	missense	0			D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"CD molecules"	1667	protein-coding gene	gene with protein product	"ADP-ribosyl cyclase 1", "NAD(+) nucleosidase"	107270	"CD38 antigen (p45)"			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.197G>C	4.37:g.15780234G>C	ENSP00000226279:p.Arg66Pro		O00121|O00122|Q96HY4	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.R66P	ENST00000226279.3	37	c.197	CCDS3417.1	4	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772255	0.49680	.	.	ENSG00000004468	ENST00000226279;ENST00000540195	T	0.25250	1.81	2.98	2.98	0.34508	.	0.065284	0.64402	D	0.000016	T	0.50667	0.1629	M	0.84948	2.725	0.24627	N	0.993648	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.35599	-0.9782	10	0.87932	D	0	.	9.6733	0.40026	0.0:0.0:1.0:0.0	.	66;66	P28907;B2R880	CD38_HUMAN;.	P	66	ENSP00000226279:R66P	ENSP00000226279:R66P	R	+	2	0	CD38	15389332	0.265000	0.24102	0.027000	0.17364	0.009000	0.06853	3.075000	0.50073	1.990000	0.58119	0.462000	0.41574	CGA	CD38	-	pfam_ADP-ribosyl_cyclase	ENSG00000004468		0.672	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD38	HGNC	protein_coding	OTTHUMT00000250322.2	-	0	73	0	G	NM_001775		15780234	1	tier1	-	no_errors	ENST00000226279	ensembl	human	known	74_37	missense	44.64	31	25	SNP	0.027	C	C	15780234	G	C	15780234	3	2	120	1	0	0	0	0	1	0	0	0	3016	1058	37	5	199	5	CD38	4	15780234	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		15780234	175374042	54	31585											
NFXL1	152518	genome.wustl.edu	37	chr4	47900008	47900008	+	Frame_Shift_Del	DEL	T	T	-																															tttctgacatggacagaaccTtttcccagatcgaggacatt																										TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr4:47900008delT	ENST00000507489.1	-	9	1356	c.1180delA	c.(1180-1182)aggfs	p.R394fs	NFXL1_ENST00000329043.3_Frame_Shift_Del_p.R394fs|NFXL1_ENST00000381538.3_Frame_Shift_Del_p.R394fs	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	394						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GGACAGAACCTTTTCCCAGAT	0.373																																																	0													96	89	91					4																	47900008		2203	4300	6503	SO:0001589	frameshift_variant	0			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.1180delA	4.37:g.47900008delT	ENSP00000422037:p.Arg394fs		B1Q2K1|Q86VG1|Q8WVH1	Frame_Shift_Del	DEL	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.R394fs	ENST00000507489.1	37	c.1180	CCDS3478.2	4																																																																																			NFXL1	-	NULL	ENSG00000170448		0.373	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1		0	14	0	T	NM_152995		47900008	-1	tier1		no_errors	ENST00000381538	ensembl	human	known	74_37	frame_shift_del	12.50	21	3	DEL	1.000	-	-	47900008	T	-	47900008	7	5	120	1	0	1	0	1	0	0	0	0	10427	1608	56	0	1615	0	NFXL1	4	47900008	Frame_Shift_Del	DEL	T	TCGA-LN-A4MR-01A-11D-A28B-09	32119774	47900008	143254268	55	31586											
EXOC1	55763	genome.wustl.edu	37	chr4	56737000	56737000	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaatggatcagatctctGaaagcaaccacctaattcat	17	9	5	10	0	3	2	2	1	1	1	4	3	3	3	2	1	3	1	2	1	5	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr4:56737000G>T	ENST00000381295.2	+	6	1108	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	EXOC1_ENST00000346134.7_Nonsense_Mutation_p.E254*|EXOC1_ENST00000349598.6_Nonsense_Mutation_p.E254*	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	254					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)					TCAGATCTCTGAAAGCAACCA	0.353																																																	0													100	103	102					4																	56737000		2203	4300	6503	SO:0001587	stop_gained	0			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.760G>T	4.37:g.56737000G>T	ENSP00000370695:p.Glu254*		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Nonsense_Mutation	SNP	pfam_Exocyst_Exoc1/SEC3	p.E254*	ENST00000381295.2	37	c.760	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	G	40	8.127440	0.98667	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.85	4.96	0.65561	.	0.099859	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	16.4649	0.84076	0.0:0.131:0.869:0.0	.	.	.	.	X	254	.	ENSP00000326514:E254X	E	+	1	0	EXOC1	56431757	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.395000	0.66291	2.768000	0.95171	0.655000	0.94253	GAA	EXOC1	-	pfam_Exocyst_Exoc1/SEC3	ENSG00000090989		0.353	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1	-	0	35	0	G	NM_018261		56737000	1	tier1	-	no_errors	ENST00000346134	ensembl	human	known	74_37	nonsense	15.00	17	3	SNP	0.999	T	T	56737000	G	T	56737000	4	4	120	1	0	0	0	0	0	1	0	0	5317	1291	45	3	778	3	EXOC1	4	56737000	Nonsense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	8836992	56737000	134417276	56	31587											
DSPP	1834	genome.wustl.edu	37	chr4	88536238	88536238	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatagcagcaacagcagtgaTagcagtgatagcagtgacag	15	6	13	7	0	0	3	0	3	0	0	0	4	0	3	0	0	6	5	0	0	4	3	rs555978267	byFrequency	TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr4:88536238T>C	ENST00000282478.7	+	4	2457	c.2424T>C	c.(2422-2424)gaT>gaC	p.D808D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D808D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	808	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)		acagcagtgatagcagtgata	0.488																																																	0													98	115	109					4																	88536238		1660	2960	4620	SO:0001819	synonymous_variant	0			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.2424T>C	4.37:g.88536238T>C			A8MUI0|O95815	Silent	SNP	NULL	p.D808	ENST00000282478.7	37	c.2424	CCDS43248.1	4																																																																																			DSPP	-	NULL	ENSG00000152591		0.488	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	-	0	176	0	T	NM_014208		88536238	1	tier1	-	no_errors	ENST00000282478	ensembl	human	known	74_37	silent	5.04	113	6	SNP	0.012	C	C	88536238	T	C	88536238	2	2	120	1	0	0	0	0	0	0	0	1	4796	1403	49	4		4	DSPP	4	88536238	Silent	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	31799238	88536238	102618038	57	31588											
DSPP	1834	genome.wustl.edu	37	chr4	88536271	88536271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	agtgacagcagtgatagcgaCagcagcaatagcagtgacag	15	5	13	8	1	0	3	0	3	0	0	0	4	0	3	0	0	5	4	0	0	3	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr4:88536271C>A	ENST00000282478.7	+	4	2490	c.2457C>A	c.(2455-2457)gaC>gaA	p.D819E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D819E			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	819	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)		gtgatagcgacagcagcaata	0.507																																																	0													96	117	110					4																	88536271		1644	2955	4599	SO:0001583	missense	0			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.2457C>A	4.37:g.88536271C>A	ENSP00000282478:p.Asp819Glu		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.D819E	ENST00000282478.7	37	c.2457	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	c	2.350	-0.349120	0.05208	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87887	-2.31;-2.31	1.11	0.169	0.15017	.	.	.	.	.	T	0.77219	0.4098	L	0.43923	1.385	0.09310	N	1	B	0.31655	0.334	B	0.20384	0.029	T	0.65845	-0.6069	9	0.62326	D	0.03	.	3.5268	0.07762	0.0:0.7069:0.0:0.2931	.	819	Q9NZW4	DSPP_HUMAN	E	819	ENSP00000382213:D819E;ENSP00000282478:D819E	ENSP00000282478:D819E	D	+	3	2	DSPP	88755295	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.493000	0.06459	0.034000	0.15491	0.165000	0.16767	GAC	DSPP	-	NULL	ENSG00000152591		0.507	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	-	0	176	0	C	NM_014208		88536271	1	tier1	-	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	5.88	96	6	SNP	0.000	A	A	88536271	C	A	88536271	3	1	120	1	0	0	0	0	1	0	0	0	4796	477	17	3	2471	3	DSPP	4	88536271	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	33	88536271	102618005	58	31589											
PDLIM5	10611	genome.wustl.edu	37	chr4	95497125	95497125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcgtgtgttccgagacttCtcaggagctagcagagggac	9	8	14	10	2	1	2	1	0	1	2	3	5	2	4	1	2	3	3	1	2	1	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr4:95497125C>T	ENST00000317968.4	+	5	786	c.650C>T	c.(649-651)tCt>tTt	p.S217F	PDLIM5_ENST00000514743.1_Missense_Mutation_p.S108F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.S108F|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000450793.1_Missense_Mutation_p.S108F|PDLIM5_ENST00000508216.1_Missense_Mutation_p.S108F|PDLIM5_ENST00000380180.3_Missense_Mutation_p.S108F|PDLIM5_ENST00000542407.1_Missense_Mutation_p.S95F	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	217					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)		TCCGAGACTTCTCAGGAGCTA	0.507																																																	0													68	67	67					4																	95497125		2203	4300	6503	SO:0001583	missense	0			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.650C>T	4.37:g.95497125C>T	ENSP00000321746:p.Ser217Phe		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.S217F	ENST00000317968.4	37	c.650	CCDS3641.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.87|16.87	3.243122|3.243122	0.58995|0.58995	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000513341|ENST00000437932;ENST00000380180;ENST00000450793;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000508216;ENST00000514743	.|T;T;T;T;T;T;T;T	.|0.58506	.|0.45;1.68;1.68;0.73;0.47;0.33;1.68;0.46	5.27|5.27	4.37|4.37	0.52481|0.52481	.|.	.|0.181160	.|0.48286	.|D	.|0.000186	T|T	0.38054|0.38054	0.1026|0.1026	N|N	0.08118|0.08118	0|0	0.32618|0.32618	N|N	0.523665|0.523665	.|P;B;P;B;B	.|0.35821	.|0.523;0.022;0.523;0.078;0.004	.|B;B;B;B;B	.|0.33799	.|0.17;0.026;0.165;0.078;0.016	T|T	0.57063|0.57063	-0.7875|-0.7875	5|10	.|0.59425	.|D	.|0.04	.|.	15.3287|15.3287	0.74190|0.74190	0.0:0.86:0.14:0.0|0.0:0.86:0.14:0.0	.|.	.|108;108;217;108;108	.|E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2	.|.;.;PDLI5_HUMAN;.;.	F|F	76|108;108;108;217;108;95;108;108	.|ENSP00000398469:S108F;ENSP00000369527:S108F;ENSP00000401579:S108F;ENSP00000321746:S217F;ENSP00000424297:S108F;ENSP00000442187:S95F;ENSP00000426804:S108F;ENSP00000424360:S108F	.|ENSP00000321746:S217F	L|S	+|+	1|2	0|0	PDLIM5|PDLIM5	95716148|95716148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.731000|3.731000	0.55013|0.55013	2.444000|2.444000	0.82710|0.82710	0.650000|0.650000	0.86243|0.86243	CTC|TCT	PDLIM5	-	NULL	ENSG00000163110		0.507	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	-	0	36	0	C			95497125	1	tier1	-	no_errors	ENST00000317968	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	T	T	95497125	C	T	95497125	3	4	120	1	0	0	0	0	1	0	0	0	11722	913	32	3	664	3	PDLIM5	4	95497125	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	6960854	95497125	95657151	59	31590											
CENPE	1062	genome.wustl.edu	37	chr4	104065534	104065534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttgagctggtctctctctActttgagagtctcctccaca	6	14	7	14	0	3	2	0	2	3	1	7	3	4	2	3	1	2	1	3	1	1	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr4:104065534A>G	ENST00000265148.3	-	33	5188	c.5099T>C	c.(5098-5100)gTa>gCa	p.V1700A	CENPE_ENST00000380026.3_Missense_Mutation_p.V1675A	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1700					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)		GTCTCTCTCTACTTTGAGAGT	0.383																																																	0													156	154	155					4																	104065534		2203	4300	6503	SO:0001583	missense	0			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.5099T>C	4.37:g.104065534A>G	ENSP00000265148:p.Val1700Ala		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V1700A	ENST00000265148.3	37	c.5099	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	A	1.056	-0.674355	0.03378	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70399	-0.48;-0.48	5.13	-0.0551	0.13811	.	.	.	.	.	T	0.50154	0.1599	L	0.35723	1.085	0.09310	N	1	B;B	0.26081	0.141;0.001	B;B	0.21151	0.033;0.002	T	0.32188	-0.9916	9	0.07175	T	0.84	.	5.2816	0.15678	0.3724:0.0:0.4661:0.1615	.	1675;1700	Q02224-3;Q02224	.;CENPE_HUMAN	A	1700;1700;1675	ENSP00000265148:V1700A;ENSP00000369365:V1675A	ENSP00000265148:V1700A	V	-	2	0	CENPE	104284983	0.000000	0.05858	0.012000	0.15200	0.650000	0.38633	-0.433000	0.06948	-0.005000	0.14395	0.445000	0.29226	GTA	CENPE	-	NULL	ENSG00000138778		0.383	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		-	0	48	0	A			104065534	-1	tier1	-	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	40.00	33	22	SNP	0.001	G	G	104065534	A	G	104065534	3	3	120	1	0	0	0	0	1	0	0	0	3237	391	14	4	3074	4	CENPE	4	104065534	Missense_Mutation	SNP	A	TCGA-LN-A4MR-01A-11D-A28B-09	8568409	104065534	87088742	60	31591											
SETD7	80854	genome.wustl.edu	37	chr4	140454373	140454373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatctttatactgccccttGaagatcagtctcccatctgt	8	16	5	12	0	4	2	1	1	3	1	5	2	4	2	3	0	2	0	3	0	4	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr4:140454373G>A	ENST00000274031.3	-	3	954	c.318C>T	c.(316-318)ttC>ttT	p.F106F	SETD7_ENST00000506866.2_Silent_p.F106F|SETD7_ENST00000406354.1_3'UTR|SETD7_ENST00000404104.3_Silent_p.F106F	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	106					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|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)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					ACTGCCCCTTGAAGATCAGTC	0.473																																																	0													184	158	167					4																	140454373		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"Chromatin-modifying enzymes / K-methyltransferases"	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.318C>T	4.37:g.140454373G>A			B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Silent	SNP	pfam_MORN,pfam_SET_dom,smart_SET_dom,pirsf_Hist-Lys_N-MeTrfase_SET,pfscan_SET_dom	p.F106	ENST00000274031.3	37	c.318	CCDS3748.1	4																																																																																			SETD7	-	pfam_MORN,pirsf_Hist-Lys_N-MeTrfase_SET	ENSG00000145391		0.473	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD7	HGNC	protein_coding	OTTHUMT00000257236.1	-	0	124	0	G	NM_030648		140454373	-1	tier1	-	no_errors	ENST00000274031	ensembl	human	known	74_37	silent	44.76	58	47	SNP	1.000	A	A	140454373	G	A	140454373	2	1	120	1	0	0	0	0	0	0	0	1	14181	1281	45	3		3	SETD7	4	140454373	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	36388839	140454373	50699903	61	31592											
FSTL5	56884	genome.wustl.edu	37	chr4	162680564	162680564	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaatgaatcttgtactcacgGaatgctctataaaattcttc	13	14	6	8	1	4	1	1	1	3	0	5	3	4	2	0	1	2	2	0	1	7	6			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr4:162680564G>C	ENST00000306100.5	-	6	1162	c.726C>G	c.(724-726)ttC>ttG	p.F242L	FSTL5_ENST00000379164.4_Splice_Site_p.F241L|FSTL5_ENST00000536695.1_Splice_Site_p.F241L|FSTL5_ENST00000427802.2_Splice_Site_p.F241L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	242	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTACTCACGGAATGCTCTAT	0.353																																																	0													93	98	96					4																	162680564		2203	4299	6502	SO:0001630	splice_region_variant	0			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.727+1C>G	4.37:g.162680564G>C			E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.F242L	ENST00000306100.5	37	c.726	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358604	0.41801	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.37	2.66	0.31614	EF-hand-like domain (1);	0.049611	0.85682	D	0.000000	T	0.24314	0.0589	M	0.79123	2.44	0.54753	D	0.999984	B;B;B	0.33288	0.022;0.406;0.058	B;B;B	0.36504	0.011;0.226;0.028	T	0.02313	-1.1178	10	0.39692	T	0.17	.	6.0777	0.19925	0.4706:0.0:0.5294:0.0	.	241;241;242	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	L	242;241;241;241	ENSP00000305334:F242L;ENSP00000368462:F241L;ENSP00000389270:F241L;ENSP00000440409:F241L	ENSP00000305334:F242L	F	-	3	2	FSTL5	162900014	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	2.379000	0.44318	0.617000	0.30160	0.579000	0.79373	TTC	FSTL5	-	NULL	ENSG00000168843		0.353	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	-	0	38	0	G	NM_020116	Missense_Mutation	162680564	-1	tier1	-	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	25.00	33	11	SNP	1.000	C	C	162680564	G	C	162680564	5	2	120	1	0	0	0	0	0	0	1	0	6104	1188	41	5	1861	5	FSTL5	4	162680564	Splice_Site	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	22226191	162680564	28473712	62	31593											
C4orf27	54969	genome.wustl.edu	37	chr4	170652975	170652975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagcaaaagcttttagtctCtcctcatcacttgcagcctc	9	12	7	13	0	3	0	2	0	1	0	6	1	4	1	2	1	4	3	2	1	3	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr4:170652975C>G	ENST00000393381.2	-	7	864	c.789G>C	c.(787-789)gaG>gaC	p.E263D		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	263						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)		CTTTTAGTCTCTCCTCATCAC	0.368																																																	0													90	78	82					4																	170652975		2203	4300	6503	SO:0001583	missense	0			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.789G>C	4.37:g.170652975C>G	ENSP00000406598:p.Glu263Asp			Missense_Mutation	SNP	pfam_DUF2228_C2H2_APLF-like	p.E263D	ENST00000393381.2	37	c.789	CCDS3813.1	4	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670421	0.29693	.	.	ENSG00000056050	ENST00000393381	T	0.48836	0.8	4.79	0.715	0.18186	.	0.414056	0.30320	N	0.009893	T	0.34424	0.0897	L	0.39898	1.24	0.42909	D	0.994259	B	0.09022	0.002	B	0.13407	0.009	T	0.11641	-1.0579	10	0.21014	T	0.42	-12.8002	11.0783	0.48045	0.0:0.4077:0.5207:0.0716	.	263	Q9NWY4	CD027_HUMAN	D	263	ENSP00000406598:E263D	ENSP00000406598:E263D	E	-	3	2	C4orf27	170889550	0.883000	0.30277	0.934000	0.37439	0.936000	0.57629	0.008000	0.13197	-0.116000	0.11893	0.462000	0.41574	GAG	C4orf27	-	pfam_DUF2228_C2H2_APLF-like	ENSG00000056050		0.368	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf27	HGNC	protein_coding	OTTHUMT00000363140.1	-	0	59	0	C	NM_017867		170652975	-1	tier1	-	no_errors	ENST00000393381	ensembl	human	known	74_37	missense	29.55	62	26	SNP	1.000	G	G	170652975	C	G	170652975	3	3	120	1	0	0	0	0	1	0	0	0	2265	912	32	5	259	5	C4orf27	4	170652975	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	7972411	170652975	20501301	63	31594											
SLC12A7	10723	genome.wustl.edu	37	chr5	1079523	1079523	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ccaaggatacagatgaaagaCgtcgtcactatggccaggat	14	7	11	9	2	1	3	1	1	0	2	2	5	1	5	2	3	1	0	2	3	4	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr5:1079523C>T	ENST00000264930.5	-	10	1429	c.1386G>A	c.(1384-1386)acG>acA	p.T462T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	462					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)	AGATGAAAGACGTCGTCACTA	0.627																																																	0													155	140	145					5																	1079523		2202	4300	6502	SO:0001819	synonymous_variant	0			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.1386G>A	5.37:g.1079523C>T			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.T462	ENST00000264930.5	37	c.1386	CCDS34129.1	5																																																																																			SLC12A7	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000113504		0.627	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	-	0	38	0	C	NM_006598		1079523	-1	tier1	-	no_errors	ENST00000264930	ensembl	human	known	74_37	silent	11.11	64	8	SNP	0.949	T	T	1079523	C	T	1079523	2	4	120	1	0	0	0	0	0	0	0	1	14433	523	19	1		1	SLC12A7	5	1079523	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09		1079523	179835737	64	31595											
KIAA0947	23379	genome.wustl.edu	37	chr5	5465103	5465103	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagttgcaacaacaaatgagGaaagaagttgttctagtcca	17	9	9	6	0	1	2	0	1	1	1	2	3	2	3	1	1	3	4	1	1	7	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr5:5465103G>T	ENST00000296564.7	+	13	5878	c.5656G>T	c.(5656-5658)Gaa>Taa	p.E1886*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1886					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						AACAAATGAGGAAAGAAGTTG	0.493																																																	0													74	72	73					5																	5465103		1891	4114	6005	SO:0001587	stop_gained	0																														ENST00000296564.7:c.5656G>T	5.37:g.5465103G>T	ENSP00000296564:p.Glu1886*		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E1886*	ENST00000296564.7	37	c.5656	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	46	12.732059	0.99692	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.6	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-2.1019	9.5887	0.39532	0.0786:0.1426:0.7788:0.0	.	.	.	.	X	1886	.	ENSP00000296564:E1886X	E	+	1	0	KIAA0947	5518103	0.008000	0.16893	0.002000	0.10522	0.240000	0.25518	1.727000	0.38095	0.733000	0.32492	0.467000	0.42956	GAA	KIAA0947	-	NULL	ENSG00000164151		0.493	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0	33	0	G			5465103	1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	nonsense	10.64	42	5	SNP	0.011	T	T	5465103	G	T	5465103	4	4	120	1	0	0	0	0	0	1	0	0	8229	1175	41	3	5706	3	KIAA0947	5	5465103	Nonsense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	4385580	5465103	175450157	65	31596											
KIAA0947	23379	genome.wustl.edu	37	chr5	5473686	5473686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctagaatgccccggtagatGttggcttcatggtttctaag	8	13	12	8	1	2	2	1	0	1	2	2	2	2	2	2	3	1	5	2	3	4	6			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr5:5473686G>A	ENST00000296564.7	+	16	6460	c.6238G>A	c.(6238-6240)Gtt>Att	p.V2080I		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2080					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						CCCGGTAGATGTTGGCTTCAT	0.333																																																	0													54	51	52					5																	5473686		1831	4084	5915	SO:0001583	missense	0																														ENST00000296564.7:c.6238G>A	5.37:g.5473686G>A	ENSP00000296564:p.Val2080Ile		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.V2080I	ENST00000296564.7	37	c.6238	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311931	0.60414	.	.	ENSG00000164151	ENST00000296564	T	0.12465	2.68	5.43	5.43	0.79202	.	.	.	.	.	T	0.16171	0.0389	L	0.45581	1.43	0.33239	D	0.557007	P	0.40638	0.725	B	0.42827	0.399	T	0.11324	-1.0592	9	0.48119	T	0.1	-13.1055	10.2218	0.43201	0.09:0.0:0.91:0.0	.	2080	Q9Y2F5	K0947_HUMAN	I	2080	ENSP00000296564:V2080I	ENSP00000296564:V2080I	V	+	1	0	KIAA0947	5526686	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.259000	0.43259	2.558000	0.86282	0.650000	0.86243	GTT	KIAA0947	-	NULL	ENSG00000164151		0.333	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0	29	0	G			5473686	1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	12.07	51	7	SNP	1.000	A	A	5473686	G	A	5473686	3	1	120	1	0	0	0	0	1	0	0	0	8229	1377	48	3	6300	3	KIAA0947	5	5473686	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	8583	5473686	175441574	66	31597											
HNRNPA0	10949	genome.wustl.edu	37	chr5	137089438	137089438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgccctcagccacgtctccTttaaggcctccgacaaagag	9	8	8	16	3	2	1	1	0	1	1	5	2	3	1	5	1	1	0	5	1	2	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr5:137089438T>C	ENST00000314940.4	-	1	601	c.318A>G	c.(316-318)aaA>aaG	p.K106K		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	106	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCACGTCTCCTTTAAGGCCTC	0.612																																																	0													75	76	75					5																	137089438		2203	4300	6503	SO:0001819	synonymous_variant	0			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.318A>G	5.37:g.137089438T>C			Q6IB18	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K106	ENST00000314940.4	37	c.318	CCDS4193.1	5																																																																																			HNRNPA0	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000177733		0.612	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPA0	HGNC	protein_coding	OTTHUMT00000251221.1	-	0	26	0	T	NM_006805		137089438	-1	tier1	-	no_errors	ENST00000314940	ensembl	human	known	74_37	silent	54.55	15	18	SNP	0.824	C	C	137089438	T	C	137089438	2	2	120	1	0	0	0	0	0	0	0	1	7283	1606	56	4		4	HNRNPA0	5	137089438	Silent	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	131615752	137089438	43825822	67	31598											
PCDHGA7	56108	genome.wustl.edu	37	chr5	140764474	140764474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtggctgacagcatccccGaagtcttggccgacctgggc	6	8	13	14	2	1	1	0	1	1	0	2	3	2	1	4	3	1	2	4	3	1	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr5:140764474G>A	ENST00000518325.1	+	1	2008	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	670	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(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCATCCCCGAAGTCTTGGC	0.637																																																	0													43	51	48					5																	140764474		2201	4297	6498	SO:0001583	missense	0			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2008G>A	5.37:g.140764474G>A	ENSP00000430024:p.Glu670Lys		B2RN87|Q9Y5D0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E670K	ENST00000518325.1	37	c.2008	CCDS54927.1	5	.	.	.	.	.	.	.	.	.	.	.	16.77	3.214028	0.58452	.	.	ENSG00000253537	ENST00000518325	T	0.52295	0.67	5.12	4.24	0.50183	Cadherin (1);	.	.	.	.	T	0.43255	0.1239	M	0.67397	2.05	0.23620	N	0.997272	B;P	0.40032	0.017;0.699	B;B	0.33254	0.024;0.16	T	0.43909	-0.9362	9	0.87932	D	0	.	9.5644	0.39389	0.0767:0.1418:0.7815:0.0	.	670;670	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	K	670	ENSP00000430024:E670K	ENSP00000430024:E670K	E	+	1	0	PCDHGA7	140744658	0.992000	0.36948	0.009000	0.14445	0.083000	0.17756	2.327000	0.43858	1.264000	0.44198	0.655000	0.94253	GAA	PCDHGA7	-	pfscan_Cadherin	ENSG00000253537		0.637	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA7	HGNC	protein_coding	OTTHUMT00000374744.1	-	0	109	0	G	NM_018920		140764474	1	tier1	-	no_errors	ENST00000518325	ensembl	human	known	74_37	missense	57.14	27	36	SNP	0.689	A	A	140764474	G	A	140764474	3	1	120	1	0	0	0	0	1	0	0	0	11598	1059	37	1	2010	1	PCDHGA7	5	140764474	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	3675036	140764474	40150786	68	31599											
ARHGAP26	23092	genome.wustl.edu	37	chr5	142513550	142513550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatttaacaccgtgcccGatatgcctctcaccaatgcc	11	10	6	14	2	1	1	1	0	1	1	2	2	1	1	5	0	4	0	5	0	4	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr5:142513550G>T	ENST00000274498.4	+	19	2095	c.1717G>T	c.(1717-1719)Gat>Tat	p.D573Y	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.D573Y	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	573					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCGTGCCCGATATGCCTCT	0.537																																																	0													190	181	184					5																	142513550		2203	4300	6503	SO:0001583	missense	0			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1717G>T	5.37:g.142513550G>T	ENSP00000274498:p.Asp573Tyr		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.D573Y	ENST00000274498.4	37	c.1717	CCDS4277.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165528	0.78339	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668	T;T	0.09817	2.94;2.99	5.95	5.95	0.96441	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.213333	0.48767	D	0.000170	T	0.25044	0.0608	L	0.41492	1.28	0.53005	D	0.99996	D;D;P	0.61697	0.989;0.99;0.936	P;P;P	0.61201	0.869;0.885;0.651	T	0.00051	-1.2192	10	0.87932	D	0	.	19.1568	0.93514	0.0:0.0:1.0:0.0	.	573;146;573	Q9UNA1;B3KT96;Q9UNA1-2	RHG26_HUMAN;.;.	Y	573;573;146	ENSP00000274498:D573Y;ENSP00000367243:D573Y	ENSP00000274498:D573Y	D	+	1	0	ARHGAP26	142493743	1.000000	0.71417	0.942000	0.38095	0.876000	0.50452	5.115000	0.64655	2.825000	0.97269	0.655000	0.94253	GAT	ARHGAP26	-	superfamily_Rho_GTPase_activation_prot	ENSG00000145819		0.537	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP26	HGNC	protein_coding	OTTHUMT00000132744.3	-	0	90	0	G	NM_015071		142513550	1	tier1	-	no_errors	ENST00000274498	ensembl	human	known	74_37	missense	52.86	33	37	SNP	0.990	T	T	142513550	G	T	142513550	3	4	120	1	0	0	0	0	1	0	0	0	875	1058	37	2	1791	2	ARHGAP26	5	142513550	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	1749076	142513550	38401710	69	31600											
CLINT1	9685	genome.wustl.edu	37	chr5	157214829	157214829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggttcatcatcggagtaTttccaagaggggccattccc	8	12	10	11	1	3	1	2	0	1	1	6	2	5	2	3	4	0	2	3	4	2	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr5:157214829T>C	ENST00000411809.2	-	12	1907	c.1703A>G	c.(1702-1704)aAt>aGt	p.N568S	CLINT1_ENST00000523908.1_Missense_Mutation_p.N586S|CLINT1_ENST00000523094.1_Missense_Mutation_p.N568S|CLINT1_ENST00000296951.5_Missense_Mutation_p.N568S|CLINT1_ENST00000530742.1_Missense_Mutation_p.N568S	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	568	Met-rich.				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)			CATCGGAGTATTTCCAAGAGG	0.542																																					Colon(22;427 587 2170 6147 14291)												0													107	103	104					5																	157214829		2016	4191	6207	SO:0001583	missense	0			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.1703A>G	5.37:g.157214829T>C	ENSP00000388340:p.Asn568Ser		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.N568S	ENST00000411809.2	37	c.1703	CCDS47330.1	5	.	.	.	.	.	.	.	.	.	.	T	0.108	-1.143050	0.01728	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.67	1.95	0.26073	.	0.724137	0.14699	N	0.303698	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20371	-1.0277	10	0.15952	T	0.53	-18.5315	1.2118	0.01906	0.1299:0.211:0.3015:0.3576	.	586;568	B7Z6F8;Q14677	.;EPN4_HUMAN	S	568;568;568;568;586	ENSP00000429345:N568S;ENSP00000433419:N568S;ENSP00000388340:N568S;ENSP00000296951:N568S;ENSP00000429824:N586S	ENSP00000296951:N568S	N	-	2	0	CLINT1	157147407	0.208000	0.23494	0.631000	0.29282	0.818000	0.46254	0.385000	0.20685	0.493000	0.27837	0.477000	0.44152	AAT	CLINT1	-	NULL	ENSG00000113282		0.542	CLINT1-001	KNOWN	basic|CCDS	protein_coding	CLINT1	HGNC	protein_coding	OTTHUMT00000374001.1	-	0	54	0	T	NM_014666		157214829	-1	tier1	-	no_errors	ENST00000296951	ensembl	human	known	74_37	missense	60.42	19	29	SNP	0.065	C	C	157214829	T	C	157214829	3	2	120	1	0	0	0	0	1	0	0	0	3538	1493	52	4	178	4	CLINT1	5	157214829	Missense_Mutation	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	14701279	157214829	23700431	70	31601											
NSD1	64324	genome.wustl.edu	37	chr5	176719054	176719054	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaaggagcgagaagatGagtgttttagttgtggggat	12	11	15	3	1	1	3	1	1	0	2	1	6	1	5	0	3	1	2	0	3	3	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr5:176719054G>T	ENST00000439151.2	+	22	6403	c.6358G>T	c.(6358-6360)Gag>Tag	p.E2120*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1851*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1851*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E2017*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2120					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)		GCGAGAAGATGAGTGTTTTAG	0.498			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													93	76	82					5																	176719054		2203	4300	6503	SO:0001587	stop_gained	0	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.6358G>T	5.37:g.176719054G>T	ENSP00000395929:p.Glu2120*		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E2120*	ENST00000439151.2	37	c.6358	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	46	12.540597	0.99676	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.3518	0.94392	0.0:0.0:1.0:0.0	.	.	.	.	X	1851;2120;1851;2017	.	ENSP00000343209:E1851X	E	+	1	0	NSD1	176651660	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.865000	0.99609	2.571000	0.86741	0.650000	0.86243	GAG	NSD1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000165671		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	-	0	47	0	G	NM_172349		176719054	1	tier1	-	no_errors	ENST00000439151	ensembl	human	known	74_37	nonsense	47.06	18	16	SNP	1.000	T	T	176719054	G	T	176719054	4	4	120	1	0	0	0	0	0	1	0	0	10708	1291	45	3	6440	3	NSD1	5	176719054	Nonsense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	19504225	176719054	4196206	71	31602											
E2F3	1871	genome.wustl.edu	37	chr6	20490452	20490452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagtttctatgggaaacCtttctcctctggcctcccca	6	13	7	15	0	4	0	1	0	3	0	6	1	5	1	5	2	1	2	5	2	2	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr6:20490452C>G	ENST00000346618.3	+	7	1255	c.1189C>G	c.(1189-1191)Ctt>Gtt	p.L397V	E2F3_ENST00000535432.1_Missense_Mutation_p.L266V	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	397	Transactivation. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TATGGGAAACCTTTCTCCTCT	0.443																																																	0													72	70	71					6																	20490452		2203	4300	6503	SO:0001583	missense	0			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1189C>G	6.37:g.20490452C>G	ENSP00000262904:p.Leu397Val		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	pfam_E2F_TDP	p.L397V	ENST00000346618.3	37	c.1189	CCDS4545.1	6	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518998	0.27211	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	T;T	0.08984	3.03;3.13	5.49	5.49	0.81192	.	0.251802	0.40469	N	0.001094	T	0.03305	0.0096	L	0.48362	1.52	0.39606	D	0.9698	B	0.30584	0.286	B	0.25884	0.064	T	0.38824	-0.9643	10	0.16420	T	0.52	.	12.8237	0.57708	0.2697:0.7303:0.0:0.0	.	397	O00716	E2F3_HUMAN	V	397;266	ENSP00000262904:L397V;ENSP00000443418:L266V	ENSP00000262904:L397V	L	+	1	0	E2F3	20598431	0.308000	0.24509	0.998000	0.56505	0.978000	0.69477	0.451000	0.21779	2.746000	0.94184	0.561000	0.74099	CTT	E2F3	-	NULL	ENSG00000112242		0.443	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	E2F3	HGNC	protein_coding	OTTHUMT00000043828.1	-	0	83	0	C			20490452	1	tier1	-	no_errors	ENST00000346618	ensembl	human	known	74_37	missense	37.84	46	28	SNP	0.960	G	G	20490452	C	G	20490452	3	3	120	1	0	0	0	0	1	0	0	0	4882	681	24	5	1215	5	E2F3	6	20490452	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09		20490452	150624615	72	31603											
HIST1H3B	8358	genome.wustl.edu	37	chr6	26031889	26031889	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttacatttacgctctttCtccgcgaatgcggcgagcga	8	12	9	12	6	2	0	0	0	2	0	3	3	2	0	1	1	4	1	1	1	3	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr6:26031889C>G	ENST00000244661.2	-	1	399	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	134					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458																																																	0													58	61	60					6																	26031889		2203	4300	6503	SO:0001583	missense	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.400G>C	6.37:g.26031889C>G	ENSP00000244661:p.Glu134Gln		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E134Q	ENST00000244661.2	37	c.400	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	14.81	2.646170	0.47258	.	.	ENSG00000124693	ENST00000244661	T	0.48201	0.82	5.17	5.17	0.71159	.	.	.	.	.	T	0.60676	0.2287	.	.	.	0.41871	D	0.990276	.	.	.	.	.	.	T	0.65647	-0.6117	6	0.87932	D	0	.	18.0207	0.89253	0.0:1.0:0.0:0.0	.	.	.	.	Q	134	ENSP00000244661:E134Q	ENSP00000244661:E134Q	E	-	1	0	HIST1H3B	26139868	1.000000	0.71417	0.976000	0.42696	0.130000	0.20726	7.492000	0.81482	2.545000	0.85829	0.561000	0.74099	GAA	HIST1H3B	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.458	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	-	0	61	0	C	NM_003537		26031889	-1	tier1	-	no_errors	ENST00000244661	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	G	G	26031889	C	G	26031889	3	3	120	1	0	0	0	0	1	0	0	0	7183	922	32	5	14	5	HIST1H3B	6	26031889	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	5541437	26031889	145083178	73	31604											
C6orf25	80740	genome.wustl.edu	37	chr6	31692525	31692525	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctctccatccttcagctCtgtcccccccacatagctcc	5	12	3	21	0	3	0	1	0	2	0	8	0	7	0	6	0	2	2	6	0	1	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr6:31692525C>T	ENST00000375819.2	-	0	0				C6orf25_ENST00000375809.3_Silent_p.L182L|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Silent_p.L151L|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375810.4_Silent_p.L182L	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TCCTTCAGCTCTGTCCCCCCC	0.562																																																	0													75	68	70					6																	31692525		2203	4300	6503	SO:0001631	upstream_gene_variant	0				CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692525C>T	Exception_encountered		Q5SRS8|Q8IY94	Silent	SNP	NULL	p.L182	ENST00000375819.2	37	c.544	CCDS4714.1	6																																																																																			C6orf25	-	NULL	ENSG00000204420		0.562	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf25	HGNC	protein_coding	OTTHUMT00000076530.2	-	0	30	0	C			31692525	1	tier1	-	no_errors	ENST00000375809	ensembl	human	known	74_37	silent	33.33	18	9	SNP	1.000	T	T	31692525	C	T	31692525	1	4	120	0	1	0	0	0	0	0	0	0	2367	912	32	3		3	C6orf25	6	31692525	5'Flank	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	5660636	31692525	139422542	74	31605											
DDAH2	23564	genome.wustl.edu	37	chr6	31696815	31696815	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaccccgtgctccctttGagctttggccagatccagag	7	9	10	15	1	0	3	0	1	0	2	2	3	2	3	5	1	3	3	5	1	0	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr6:31696815G>A	ENST00000375789.2	-	1	754	c.124C>T	c.(124-126)Caa>Taa	p.Q42*	DDAH2_ENST00000375787.2_Nonsense_Mutation_p.Q42*|DDAH2_ENST00000480913.1_Intron|DDAH2_ENST00000375792.3_Nonsense_Mutation_p.Q42*			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	42					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	TGCTCCCTTTGAGCTTTGGCC	0.662																																																	0													93	68	77					6																	31696815		1511	2709	4220	SO:0001587	stop_gained	0			AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.124C>T	6.37:g.31696815G>A	ENSP00000364945:p.Gln42*		A2BEZ7	Nonsense_Mutation	SNP	pfam_Amidino_trans	p.Q42*	ENST00000375789.2	37	c.124	CCDS4718.1	6	.	.	.	.	.	.	.	.	.	.	G	38	7.195339	0.98129	.	.	ENSG00000213722	ENST00000375789;ENST00000375787;ENST00000375792;ENST00000416410;ENST00000436437	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.9682	16.0632	0.80853	0.0:0.0:1.0:0.0	.	.	.	.	X	42	.	.	Q	-	1	0	DDAH2	31804794	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.301000	0.59086	2.641000	0.89580	0.650000	0.86243	CAA	DDAH2	-	NULL	ENSG00000213722		0.662	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH2	HGNC	protein_coding	OTTHUMT00000076432.2	-	0	52	0	G			31696815	-1	tier1	-	no_errors	ENST00000375787	ensembl	human	known	74_37	nonsense	14.81	46	8	SNP	1.000	A	A	31696815	G	A	31696815	4	1	120	1	0	0	0	0	0	1	0	0	4331	1299	45	3	757	3	DDAH2	6	31696815	Nonsense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	4290	31696815	139418252	75	31606											
DNAH8	1769	genome.wustl.edu	37	chr6	38743696	38743696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatttgacacagatttctTagatttcatgacaaaaatca	17	13	5	6	0	3	5	2	2	1	3	3	5	3	5	0	0	0	0	0	0	4	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr6:38743696T>C	ENST00000359357.3	+	11	1534	c.1280T>C	c.(1279-1281)tTa>tCa	p.L427S	DNAH8_ENST00000441566.1_Missense_Mutation_p.L427S|DNAH8_ENST00000449981.2_Missense_Mutation_p.L644S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	427					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						ACAGATTTCTTAGATTTCATG	0.303																																																	0													82	96	91					6																	38743696		2200	4281	6481	SO:0001583	missense	0			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.1280T>C	6.37:g.38743696T>C	ENSP00000352312:p.Leu427Ser		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L427S	ENST00000359357.3	37	c.1280		6	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.913763	0.00503	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.65549	-0.16;0.55;0.55;0.55	5.77	0.706	0.18133	Dynein heavy chain, domain-1 (1);	1.117230	0.06766	N	0.782738	T	0.23370	0.0565	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.23297	-1.0192	10	0.09590	T	0.72	.	9.2328	0.37448	0.0:0.3825:0.0:0.6175	.	427	Q96JB1	DYH8_HUMAN	S	632;632;427;427	ENSP00000415331:L632S;ENSP00000333363:L632S;ENSP00000352312:L427S;ENSP00000402294:L427S	ENSP00000333363:L632S	L	+	2	0	DNAH8	38851674	0.016000	0.18221	0.072000	0.20136	0.013000	0.08279	0.544000	0.23253	-0.084000	0.12595	-0.924000	0.02725	TTA	DNAH8	-	pfam_Dynein_heavy_dom-1	ENSG00000124721		0.303	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1		0	44	0	T	NM_001206927		38743696	1			no_errors	ENST00000359357	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.072	C	C	38743696	T	C	38743696	3	2	120	1	0	0	0	0	1	0	0	0	4621	1764	61	4	1314	4	DNAH8	6	38743696	Missense_Mutation	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	7046881	38743696	132371371	76	31607											
C6orf170	221322	genome.wustl.edu	37	chr6	121481218	121481218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttggcaatggatatgatGaaaacattggccaaggatat	15	11	11	4	0	0	2	0	2	0	0	0	4	0	4	1	4	1	2	1	4	6	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr6:121481218G>A	ENST00000398212.2	-	24	2760	c.2711C>T	c.(2710-2712)tCa>tTa	p.S904L	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Missense_Mutation_p.S945L	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	904					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)										TGGATATGATGAAAACATTGG	0.303																																																	0													115	109	111					6																	121481218		1817	4082	5899	SO:0001583	missense	0			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.2711C>T	6.37:g.121481218G>A	ENSP00000381270:p.Ser904Leu		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom	p.S945L	ENST00000398212.2	37	c.2834	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657172	0.67586	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.25085	1.82;1.82	5.03	5.03	0.67393	.	0.134415	0.52532	D	0.000075	T	0.25419	0.0618	M	0.71581	2.175	0.54753	D	0.999985	P;P	0.38827	0.649;0.576	B;B	0.40066	0.273;0.318	T	0.13818	-1.0495	10	0.72032	D	0.01	.	18.7188	0.91686	0.0:0.0:1.0:0.0	.	945;904	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	L	945;904	ENSP00000275159:S945L;ENSP00000381270:S904L	ENSP00000275159:S945L	S	-	2	0	C6orf170	121522917	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.274000	0.78538	2.479000	0.83701	0.460000	0.39030	TCA	TBC1D32	-	NULL	ENSG00000146350		0.303	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2	-	0	45	0	G	NM_152730		121481218	-1	tier1	-	no_errors	ENST00000275159	ensembl	human	putative	74_37	missense	52.00	12	13	SNP	1.000	A	A	121481218	G	A	121481218	3	1	120	1	0	0	0	0	1	0	0	0	2351	1294	45	3	1098	3	C6orf170	6	121481218	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	82737522	121481218	49633849	77	31608											
MAP3K5	4217	genome.wustl.edu	37	chr6	137019722	137019722	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcgaagttcggttgcatGagctctgtcaaccccttcat	8	12	9	12	2	3	1	2	1	1	0	5	2	3	1	2	1	4	5	2	1	2	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr6:137019722G>A	ENST00000359015.4	-	4	1071	c.711C>T	c.(709-711)ctC>ctT	p.L237L		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	237					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCGGTTGCATGAGCTCTGTCA	0.448																																																	0													147	126	133					6																	137019722		2203	4300	6503	SO:0001819	synonymous_variant	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.711C>T	6.37:g.137019722G>A			A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L237	ENST00000359015.4	37	c.711	CCDS5179.1	6																																																																																			MAP3K5	-	NULL	ENSG00000197442		0.448	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0	30	0	G			137019722	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	silent	54.05	17	20	SNP	0.997	A	A	137019722	G	A	137019722	2	1	120	1	0	0	0	0	0	0	0	1	9291	1277	45	3		3	MAP3K5	6	137019722	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	15538504	137019722	34095345	78	31609											
TAGAP	117289	genome.wustl.edu	37	chr6	159459233	159459233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatttcaaagcagttatCaatgaggaattccaccagtg	16	11	7	7	0	2	1	2	1	0	0	3	2	3	2	2	1	1	2	2	1	6	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr6:159459233C>A	ENST00000367066.3	-	9	1142	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	TAGAP_ENST00000326965.6_Missense_Mutation_p.D93Y|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_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	271	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)	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)		AAGCAGTTATCAATGAGGAAT	0.398																																																	0													122	115	117					6																	159459233		2203	4300	6503	SO:0001583	missense	0			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.811G>T	6.37:g.159459233C>A	ENSP00000356033:p.Asp271Tyr		Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D271Y	ENST00000367066.3	37	c.811	CCDS5261.1	6	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251616	0.80135	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.23950	1.88;1.88	6.17	6.17	0.99709	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.134503	0.50627	D	0.000114	T	0.43656	0.1257	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.33854	-0.9852	10	0.87932	D	0	-23.6641	14.6223	0.68594	0.0:0.9304:0.0:0.0696	.	271	Q8N103	TAGAP_HUMAN	Y	271;93	ENSP00000356033:D271Y;ENSP00000322650:D93Y	ENSP00000322650:D93Y	D	-	1	0	TAGAP	159379221	1.000000	0.71417	0.509000	0.27700	0.957000	0.61999	3.707000	0.54838	2.941000	0.99782	0.655000	0.94253	GAT	TAGAP	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000164691		0.398	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1		0	31	0	C	NM_054114		159459233	-1			no_errors	ENST00000367066	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.465	A	A	159459233	C	A	159459233	3	1	120	1	0	0	0	0	1	0	0	0	15584	826	29	3	1392	3	TAGAP	6	159459233	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	22439511	159459233	11655834	79	31610											
PMS2	5395	genome.wustl.edu	37	chr7	6026532	6026532	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtttagctaaagaactcaTagaaaagtccaggggcacaa	16	8	9	8	1	1	2	1	0	0	2	3	2	2	2	1	2	2	3	1	2	8	4	rs370853512	byFrequency	TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr7:6026532T>A	ENST00000265849.7	-	11	1969	c.1864A>T	c.(1864-1866)Atg>Ttg	p.M622L	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.M516L	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	622			M -> I (may be associated with increased susceptibility to colorectal cancer; significantly reduced interaction with MLH1; dbSNP:rs1805324). {ECO:0000269|PubMed:10480359, ECO:0000269|PubMed:15489334}.		ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AAAGAACTCATAGAAAAGTCC	0.388			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													97	95	95					7																	6026532		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1864A>T	7.37:g.6026532T>A	ENSP00000265849:p.Met622Leu		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.M622L	ENST00000265849.7	37	c.1864	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	t	0.027	-1.366222	0.01235	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476	T;T	0.34472	1.36;1.36	5.81	2.02	0.26589	.	0.212273	0.49305	N	0.000142	T	0.18964	0.0455	N	0.13272	0.32	0.20196	N	0.999921	B;B	0.09022	0.0;0.002	B;B	0.11329	0.001;0.006	T	0.28427	-1.0044	10	0.02654	T	1	-11.6137	14.8812	0.70534	0.0:0.0:0.5252:0.4748	.	622;516	P54278;C9J167	PMS2_HUMAN;.	L	622;575;516	ENSP00000265849:M622L;ENSP00000392843:M516L	ENSP00000265849:M622L	M	-	1	0	PMS2	5993058	0.858000	0.29795	0.111000	0.21465	0.453000	0.32348	1.180000	0.32005	0.100000	0.17581	-0.416000	0.06073	ATG	PMS2	-	NULL	ENSG00000122512		0.388	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	-	0	66	0	T	NM_000535		6026532	-1	tier1	-	no_errors	ENST00000265849	ensembl	human	known	74_37	missense	60.67	35	54	SNP	0.165	A	A	6026532	T	A	6026532	3	1	120	1	0	0	0	0	1	0	0	0	12182	1406	49	5	744	5	PMS2	7	6026532	Missense_Mutation	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09		6026532	153112131	80	31611											
SNX13	23161	genome.wustl.edu	37	chr7	17931220	17931220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgtcaatcttctatcaatCttaatagtcctggcttcccg	8	14	5	14	2	5	0	2	0	3	0	7	0	7	0	3	1	0	1	3	1	5	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr7:17931220C>G	ENST00000409389.1	-	4	439	c.267G>C	c.(265-267)aaG>aaC	p.K89N	SNX13_ENST00000428135.3_Missense_Mutation_p.K89N|SNX13_ENST00000409604.1_Missense_Mutation_p.K89N			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	89					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTCTATCAATCTTAATAGTCC	0.348																																																	0													100	95	97					7																	17931220		1819	4083	5902	SO:0001583	missense	0			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.267G>C	7.37:g.17931220C>G	ENSP00000386705:p.Lys89Asn		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.K89N	ENST00000409389.1	37	c.267		7	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313359	0.60414	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044;ENST00000409604	T;T	0.19532	2.14;2.4	5.5	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	N	0.24115	0.695	0.80722	D	1	D;D;P;D	0.65815	0.981;0.995;0.934;0.991	P;P;P;P	0.58820	0.617;0.844;0.53;0.846	T	0.02345	-1.1173	10	0.29301	T	0.29	-11.3239	14.4078	0.67093	0.0:0.9287:0.0:0.0713	.	89;89;89;89	Q9NSH0;Q9Y5W8;B8ZZT9;Q9Y5W8-2	.;SNX13_HUMAN;.;.	N	89;89;137;89	ENSP00000386705:K89N;ENSP00000398789:K89N	ENSP00000242044:K137N	K	-	3	2	SNX13	17897745	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	3.513000	0.53414	1.329000	0.45376	0.650000	0.86243	AAG	SNX13	-	NULL	ENSG00000071189		0.348	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1		0	12	0	C	NM_015132		17931220	-1			no_errors	ENST00000428135	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	G	G	17931220	C	G	17931220	3	3	120	1	0	0	0	0	1	0	0	0	14929	912	32	5	2698	5	SNX13	7	17931220	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	11904688	17931220	141207443	81	31612											
URGCP	55665	genome.wustl.edu	37	chr7	43917445	43917445	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggagggatcatggccgttCtgctgcattcgaagttctag	8	11	14	8	2	3	0	1	0	2	0	4	4	3	2	1	3	2	4	1	3	2	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr7:43917445C>T	ENST00000453200.1	-	6	2110	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q	URGCP_ENST00000336086.6_Silent_p.Q496Q|URGCP_ENST00000223341.7_Silent_p.Q496Q|URGCP_ENST00000443736.1_Silent_p.Q496Q|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Silent_p.Q496Q|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Silent_p.Q530Q			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	539					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						CATGGCCGTTCTGCTGCATTC	0.612																																																	0													40	45	43					7																	43917445		2026	4163	6189	SO:0001819	synonymous_variant	0				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.1617G>A	7.37:g.43917445C>T			E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.Q539	ENST00000453200.1	37	c.1617	CCDS47578.1	7																																																																																			URGCP	-	NULL	ENSG00000106608		0.612	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	-	0	55	0	C	NM_001077664		43917445	-1	tier1	-	no_errors	ENST00000453200	ensembl	human	known	74_37	silent	48.53	35	33	SNP	1.000	T	T	43917445	C	T	43917445	2	4	120	1	0	0	0	0	0	0	0	1	17075	912	32	3		3	URGCP	7	43917445	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	25986225	43917445	115221218	82	31613											
ZNF498	221785	genome.wustl.edu	37	chr7	99226869	99226869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaagacctgaaaggggcGctggtggcactgacatcaga	12	5	15	9	1	1	4	1	2	0	2	1	5	1	5	1	5	0	2	1	5	2	0			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr7:99226869G>A	ENST00000394152.2	+	8	1188	c.861G>A	c.(859-861)gcG>gcA	p.A287A	ZSCAN25_ENST00000262941.6_Silent_p.A215A|ZSCAN25_ENST00000334715.3_Silent_p.A287A|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	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)										TGAAAGGGGCGCTGGTGGCAC	0.602																																																	0													70	76	74					7																	99226869		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.861G>A	7.37:g.99226869G>A			A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A287	ENST00000394152.2	37	c.861	CCDS5671.2	7																																																																																			ZSCAN25	-	NULL	ENSG00000197037		0.602	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN25	HGNC	protein_coding	OTTHUMT00000157203.4	-	0	45	0	G	NM_145115		99226869	1	tier1	-	no_errors	ENST00000334715	ensembl	human	known	74_37	silent	34.62	17	9	SNP	0.230	A	A	99226869	G	A	99226869	2	1	120	1	0	0	0	0	0	0	0	1	17995	1074	38	1		1	ZNF498	7	99226869	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	55309424	99226869	59911794	83	31614											
WHSC1L1	54904	genome.wustl.edu	37	chr8	38173482	38173482	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtgtctctgtatgctGaactagtcatttctacatca	10	15	7	9	0	4	2	2	1	2	1	5	2	4	2	0	0	3	2	0	0	4	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr8:38173482G>T	ENST00000317025.8	-	10	2451	c.1934C>A	c.(1933-1935)tCa>tAa	p.S645*	WHSC1L1_ENST00000525081.1_5'Flank|WHSC1L1_ENST00000433384.2_Nonsense_Mutation_p.S645*|WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.S645*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	645					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)			TCTGTATGCTGAACTAGTCAT	0.418			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													158	152	154					8																	38173482		2104	4224	6328	SO:0001587	stop_gained	0			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.1934C>A	8.37:g.38173482G>T	ENSP00000313983:p.Ser645*		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S645*	ENST00000317025.8	37	c.1934	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	G	42	9.728540	0.99249	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	.	.	.	5.85	4.95	0.65309	.	0.525202	0.15033	U	0.284321	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	16.5757	0.84637	0.0:0.1347:0.8653:0.0	.	.	.	.	X	645;645;582;645	.	ENSP00000313983:S645X	S	-	2	0	WHSC1L1	38292639	1.000000	0.71417	0.847000	0.33407	0.973000	0.67179	5.232000	0.65332	1.436000	0.47453	0.650000	0.86243	TCA	WHSC1L1	-	NULL	ENSG00000147548		0.418	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3		0	18	0	G	NM_023034		38173482	-1			no_errors	ENST00000317025	ensembl	human	known	74_37	nonsense	13.64	19	3	SNP	1.000	T	T	38173482	G	T	38173482	4	4	120	1	0	0	0	0	0	1	0	0	17412	1294	45	3	2439	3	WHSC1L1	8	38173482	Nonsense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		38173482	108190540	84	31615											
TMEM70	54968	genome.wustl.edu	37	chr8	74891032	74891032	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttcgattcttaaatacGccatctgacaaatcagaaga	15	12	6	8	2	3	3	1	1	2	2	4	4	3	3	1	0	1	1	1	0	6	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr8:74891032G>T	ENST00000312184.5	+	2	325	c.252G>T	c.(250-252)acG>acT	p.T84T	TMEM70_ENST00000517439.1_Silent_p.T84T|Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	84					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)			TCTTAAATACGCCATCTGACA	0.353																																																	0													139	147	144					8																	74891032		2203	4300	6503	SO:0001819	synonymous_variant	0			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.252G>T	8.37:g.74891032G>T			E9PDY9|Q9NWY5	Silent	SNP	pfam_DUF1301_TMEM70	p.T84	ENST00000312184.5	37	c.252	CCDS6215.1	8																																																																																			TMEM70	-	NULL	ENSG00000175606		0.353	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM70	HGNC	protein_coding	OTTHUMT00000379028.1	-	0	74	0	G	NM_017866		74891032	1	tier1	-	no_errors	ENST00000312184	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.406	T	T	74891032	G	T	74891032	2	4	120	1	0	0	0	0	0	0	0	1	16246	1074	38	2		2	TMEM70	8	74891032	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	36717550	74891032	71472990	85	31616											
PARP10	84875	genome.wustl.edu	37	chr8	145057845	145057845	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgctgggggccacaggctCctcctcctcatgccctgggg	4	8	14	15	0	1	0	1	0	0	0	4	0	4	0	5	5	2	2	5	5	0	0			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr8:145057845C>A	ENST00000313028.7	-	8	2006	c.1912G>T	c.(1912-1914)Gag>Tag	p.E638*	PARP10_ENST00000524918.1_Nonsense_Mutation_p.E629*|PARP10_ENST00000525773.1_Nonsense_Mutation_p.E650*|PARP10_ENST00000533665.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	638	Glu-rich.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCACAGGCTCCTCCTCCTCA	0.687																																																	0													21	20	20					8																	145057845		2196	4283	6479	SO:0001587	stop_gained	0			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.1912G>T	8.37:g.145057845C>A	ENSP00000325618:p.Glu638*		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Nonsense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E638*	ENST00000313028.7	37	c.1912	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	C	17.79	3.474998	0.63737	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	.	.	.	4.53	0.214	0.15249	.	0.630703	0.14017	N	0.347037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	3.9869	0.09519	0.0:0.5011:0.1786:0.3203	.	.	.	.	X	629;344;638;650	.	ENSP00000325618:E638X	E	-	1	0	PARP10	145129833	0.000000	0.05858	0.005000	0.12908	0.022000	0.10575	0.678000	0.25277	0.360000	0.24265	0.479000	0.44913	GAG	PARP10	-	NULL	ENSG00000178685		0.687	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	-	0	82	0	C	NM_032789		145057845	-1	tier1	-	no_errors	ENST00000313028	ensembl	human	known	74_37	nonsense	46.60	55	48	SNP	0.000	A	A	145057845	C	A	145057845	4	1	120	1	0	0	0	0	0	1	0	0	11494	864	30	3	1181	3	PARP10	8	145057845	Nonsense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	70166813	145057845	1306177	86	31617											
BNC2	54796	genome.wustl.edu	37	chr9	16552681	16552681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccatagagcatcaggctGctgatgtcaaacacgacgtt	11	9	10	11	2	2	2	2	1	0	1	3	3	3	2	1	1	3	4	1	1	2	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr9:16552681G>T	ENST00000380672.4	-	5	573	c.516C>A	c.(514-516)agC>agA	p.S172R	BNC2_ENST00000545497.1_Missense_Mutation_p.S77R|BNC2_ENST00000380667.2_Missense_Mutation_p.S105R|BNC2_ENST00000380666.2_Missense_Mutation_p.S172R	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)		GCATCAGGCTGCTGATGTCAA	0.562																																																	0													140	111	121					9																	16552681		2203	4300	6503	SO:0001583	missense	0			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.516C>A	9.37:g.16552681G>T	ENSP00000370047:p.Ser172Arg			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S172R	ENST00000380672.4	37	c.516	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	G	35	5.469563	0.96274	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000380666;ENST00000540340;ENST00000451290	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.997;0.995;0.989	D;D;D;D;P	0.79108	0.929;0.992;0.991;0.969;0.857	D	0.92551	0.6050	10	0.87932	D	0	-18.387	20.4366	0.99092	0.0:0.0:1.0:0.0	.	77;209;172;130;172	F5H586;Q06HC4;Q6ZN30-2;Q5H9S4;Q6ZN30	.;.;.;.;BNC2_HUMAN	R	172;129;209;200;105;77;172;172;95	ENSP00000370047:S172R;ENSP00000408370:S129R;ENSP00000370042:S105R;ENSP00000444640:S77R;ENSP00000370041:S172R	ENSP00000370041:S172R	S	-	3	2	BNC2	16542681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.837000	0.97791	0.591000	0.81541	AGC	BNC2	-	NULL	ENSG00000173068		0.562	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	-	0	66	0	G	NM_017637		16552681	-1	tier1	-	no_errors	ENST00000380672	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	16552681	G	T	16552681	3	4	120	1	0	0	0	0	1	0	0	0	1477	1310	46	3	2795	3	BNC2	9	16552681	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		16552681	124660750	87	31618											
FAM75A6	389730	genome.wustl.edu	37	chr9	43628235	43628235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggatccggggaagctaacGgggagagaatgggagcagca	13	3	19	6	2	0	1	0	0	0	1	1	7	1	5	1	6	4	3	1	6	3	1	rs199884594	byFrequency	TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr9:43628235G>A	ENST00000332857.6	-	4	480	c.452C>T	c.(451-453)cCg>cTg	p.P151L	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	151	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGAAGCTAACGGGGAGAGAAT	0.607													G|||	745	0.148762	0.1014	0.1729	5008	,	,		9168	0.1984		0.1471	False		,,,				2504	0.1462																0													1	1	1					9																	43628235		25	134	159	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.452C>T	9.37:g.43628235G>A	ENSP00000329825:p.Pro151Leu			Missense_Mutation	SNP	NULL	p.P151L	ENST00000332857.6	37	c.452	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	g	3.315	-0.140074	0.06669	.	.	ENSG00000185775	ENST00000332857	T	0.04551	3.6	1.93	-0.328	0.12690	.	0.929591	0.08817	N	0.889351	T	0.04543	0.0124	M	0.67397	2.05	0.80722	P	0.0	P	0.38582	0.638	B	0.28991	0.097	T	0.40251	-0.9573	9	0.18710	T	0.47	.	4.1931	0.10430	0.5006:0.0:0.4994:0.0	.	151	Q5VVP1	F75A6_HUMAN	L	151	ENSP00000329825:P151L	ENSP00000329825:P151L	P	-	2	0	FAM75A6	43568231	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.634000	0.02020	-0.086000	0.12550	-0.558000	0.04189	CCG	SPATA31A6	-	NULL	ENSG00000185775		0.607	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	-	0	18	0	G	NM_001145196		43628235	-1	tier1	rs199884594	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	66.67	1	2	SNP	0.000	A	A	43628235	G	A	43628235	3	1	120	1	0	0	0	0	1	0	0	0	5644	1116	39	1	3583	1	FAM75A6	9	43628235	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	27075554	43628235	97585196	88	31619											
STX17	55014	genome.wustl.edu	37	chr9	102713526	102713526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaatttaatgatgaagaaaCtttgctacagcctcctttga	13	13	7	8	0	0	4	0	3	0	1	1	4	1	4	2	0	4	2	2	0	5	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr9:102713526C>G	ENST00000259400.6	+	4	510	c.374C>G	c.(373-375)aCt>aGt	p.T125S	STX17_ENST00000534052.1_Missense_Mutation_p.T125S|STX17_ENST00000525640.1_Missense_Mutation_p.T125S|STX17_ENST00000525847.1_3'UTR	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	125					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)				GATGAAGAAACTTTGCTACAG	0.383																																																	0													110	107	108					9																	102713526		2203	4299	6502	SO:0001583	missense	0			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.374C>G	9.37:g.102713526C>G	ENSP00000259400:p.Thr125Ser		Q4VXC2	Missense_Mutation	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.T125S	ENST00000259400.6	37	c.374	CCDS6745.1	9	.	.	.	.	.	.	.	.	.	.	C	2.334	-0.352654	0.05173	.	.	ENSG00000136874	ENST00000259400;ENST00000525640;ENST00000534052	T;T;T	0.21734	1.99;1.99;1.99	5.37	2.52	0.30459	t-SNARE (1);	0.406811	0.26963	N	0.021612	T	0.05823	0.0152	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.39187	-0.9626	10	0.09590	T	0.72	-0.2573	4.8957	0.13749	0.1499:0.6241:0.1447:0.0813	.	125;125	P56962;B4DJ69	STX17_HUMAN;.	S	125	ENSP00000259400:T125S;ENSP00000435981:T125S;ENSP00000433484:T125S	ENSP00000259400:T125S	T	+	2	0	STX17	101753347	0.033000	0.19621	0.091000	0.20842	0.521000	0.34408	0.662000	0.25038	0.231000	0.21079	-2.673000	0.00144	ACT	STX17	-	superfamily_t-SNARE	ENSG00000136874		0.383	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	STX17	HGNC	protein_coding	OTTHUMT00000053398.3	-	0	63	0	C	NM_017919		102713526	1	tier1	-	no_errors	ENST00000259400	ensembl	human	known	74_37	missense	24.53	39	13	SNP	0.052	G	G	102713526	C	G	102713526	3	3	120	1	0	0	0	0	1	0	0	0	15387	565	20	5	384	5	STX17	9	102713526	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	59085291	102713526	38499905	89	31620											
PDCL	5082	genome.wustl.edu	37	chr9	125582567	125582567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ccccttatagatcagcagggCaggaagggcattcctggtga	10	8	13	10	0	1	2	1	1	0	1	2	3	2	3	3	4	1	3	3	4	3	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr9:125582567C>A	ENST00000259467.4	-	4	868	c.703G>T	c.(703-705)Gcc>Tcc	p.A235S		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	235					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						ATCAGCAGGGCAGGAAGGGCA	0.507																																																	0													78	69	72					9																	125582567		2203	4300	6503	SO:0001583	missense	0			AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.703G>T	9.37:g.125582567C>A	ENSP00000259467:p.Ala235Ser		Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin	p.A235S	ENST00000259467.4	37	c.703	CCDS6845.1	9	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256965	0.80246	.	.	ENSG00000136940	ENST00000259467	T	0.14391	2.51	5.96	5.07	0.68467	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.044772	0.85682	D	0.000000	T	0.32585	0.0834	L	0.61387	1.9	0.80722	D	1	D	0.71674	0.998	D	0.65323	0.934	T	0.04320	-1.0960	10	0.66056	D	0.02	-10.8711	14.0171	0.64531	0.0:0.9283:0.0:0.0717	.	235	Q13371	PHLP_HUMAN	S	235	ENSP00000259467:A235S	ENSP00000259467:A235S	A	-	1	0	PDCL	124622388	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.652000	0.61454	1.526000	0.49068	0.655000	0.94253	GCC	PDCL	-	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin	ENSG00000136940		0.507	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCL	HGNC	protein_coding	OTTHUMT00000053956.1	-	0	35	0	C	NM_005388		125582567	-1	tier1	-	no_errors	ENST00000259467	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	A	A	125582567	C	A	125582567	3	1	120	1	0	0	0	0	1	0	0	0	11665	710	25	3	206	3	PDCL	9	125582567	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	22869041	125582567	15630864	90	31621											
CIZ1	25792	genome.wustl.edu	37	chr9	130931405	130931405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctcttcttcatcaccctCgaagcaacccacagcgtcca	9	10	4	18	2	4	0	2	0	2	0	7	1	6	0	4	0	3	1	4	0	2	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr9:130931405C>T	ENST00000393608.1	-	14	2423	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000277465.4_Missense_Mutation_p.E713K|CIZ1_ENST00000538431.1_Missense_Mutation_p.E767K|CIZ1_ENST00000372938.5_Missense_Mutation_p.E741K|CIZ1_ENST00000357558.5_Missense_Mutation_p.E713K|CIZ1_ENST00000325721.8_Missense_Mutation_p.E712K|CIZ1_ENST00000372948.3_Missense_Mutation_p.E685K|CIZ1_ENST00000372954.1_Missense_Mutation_p.E661K|CIZ1_ENST00000541172.1_Missense_Mutation_p.E640K	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	741	Glu-rich.				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						tcatcaccctcGAAGCAACCC	0.547																																																	0													298	279	286					9																	130931405		2203	4300	6503	SO:0001583	missense	0			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.2221G>A	9.37:g.130931405C>T	ENSP00000377232:p.Glu741Lys		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.E767K	ENST00000393608.1	37	c.2299	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664455	0.88251	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.37;1.34;1.52;1.36;1.78;1.52;1.2;1.37;1.94	5.81	5.81	0.92471	.	0.000000	0.48286	D	0.000198	T	0.43722	0.1260	L	0.43152	1.355	0.47862	D	0.999534	P;D;D;D;D;D;D	0.64830	0.939;0.984;0.994;0.964;0.984;0.964;0.984	B;B;P;P;B;P;B	0.50490	0.231;0.359;0.642;0.454;0.359;0.454;0.359	T	0.10730	-1.0617	10	0.38643	T	0.18	-22.965	19.0668	0.93114	0.0:1.0:0.0:0.0	.	767;680;685;661;741;712;713	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	K	661;741;767;713;712;680;640;713;685;741;663	ENSP00000362045:E661K;ENSP00000377232:E741K;ENSP00000439244:E767K;ENSP00000350169:E713K;ENSP00000320374:E712K;ENSP00000445057:E640K;ENSP00000277465:E713K;ENSP00000362039:E685K;ENSP00000362029:E741K;ENSP00000398011:E663K	ENSP00000277465:E713K	E	-	1	0	CIZ1	129971226	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.947000	0.63583	2.757000	0.94681	0.462000	0.41574	GAG	CIZ1	-	NULL	ENSG00000148337		0.547	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	-	0	63	0	C	NM_012127		130931405	-1	tier1	-	no_errors	ENST00000538431	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	T	T	130931405	C	T	130931405	3	4	120	1	0	0	0	0	1	0	0	0	3448	893	31	1	491	1	CIZ1	9	130931405	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	5348838	130931405	10282026	91	31622											
DNM1	1759	genome.wustl.edu	37	chr9	130996366	130996366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacccacatccgggagcgcGagggccgcactaaggagcag	10	2	14	15	4	0	0	0	0	0	0	1	3	1	2	4	3	2	2	4	3	1	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr9:130996366G>A	ENST00000372923.3	+	11	1494	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	DNM1_ENST00000341179.7_Missense_Mutation_p.E468K|DNM1_ENST00000475805.1_Missense_Mutation_p.E468K|DNM1_ENST00000393594.3_Missense_Mutation_p.E468K|DNM1_ENST00000486160.1_Missense_Mutation_p.E468K	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	468					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						CCGGGAGCGCGAGGGCCGCAC	0.701																																					GBM(113;146 1575 2722 28670 29921)												0													20	18	19					9																	130996366		2173	4271	6444	SO:0001583	missense	0			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.1402G>A	9.37:g.130996366G>A	ENSP00000362014:p.Glu468Lys		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.E468K	ENST00000372923.3	37	c.1402	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591817	0.86953	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.0	5.0	0.66597	Dynamin central domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	M	0.83692	2.655	0.80722	D	1	P;P;B	0.43909	0.821;0.785;0.043	B;B;B	0.35312	0.2;0.127;0.012	T	0.80320	-0.1432	10	0.45353	T	0.12	-6.2815	18.2964	0.90147	0.0:0.0:1.0:0.0	.	468;468;468	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	K	468;468;468;463;468;468;13	ENSP00000419225:E468K;ENSP00000345680:E468K;ENSP00000362014:E468K;ENSP00000377219:E468K;ENSP00000420045:E468K	ENSP00000345680:E468K	E	+	1	0	DNM1	130036187	1.000000	0.71417	0.981000	0.43875	0.977000	0.68977	9.468000	0.97676	2.304000	0.77564	0.455000	0.32223	GAG	DNM1	-	pfam_Dynamin_central	ENSG00000106976		0.701	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	-	0	62	0	G	NM_004408		130996366	1	tier1	-	no_errors	ENST00000372923	ensembl	human	known	74_37	missense	36.84	24	14	SNP	1.000	A	A	130996366	G	A	130996366	3	1	120	1	0	0	0	0	1	0	0	0	4684	1059	37	1	1444	1	DNM1	9	130996366	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	64961	130996366	10217065	92	31623											
CACNA1B	774	genome.wustl.edu	37	chr9	141016131	141016131	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagccgtgggctttccGaacacaacgccctgctgcag	7	7	12	15	3	1	0	1	0	0	0	2	1	2	0	3	2	5	4	3	2	2	1	rs202111201		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr9:141016131G>T	ENST00000371372.1	+	47	6845	c.6700G>T	c.(6700-6702)Gaa>Taa	p.E2234*	CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E2232*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E2235*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E2233*|CACNA1B_ENST00000277549.5_Nonsense_Mutation_p.E1428*|CACNA1B_ENST00000277551.2_Silent_p.P2171P	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2234					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)	TGGGCTTTCCGAACACAACGC	0.652																																																	0													35	42	40					9																	141016131		2052	4186	6238	SO:0001587	stop_gained	0			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.6700G>T	9.37:g.141016131G>T	ENSP00000360423:p.Glu2234*		B1AQK5	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.E2235*	ENST00000371372.1	37	c.6703	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	56	27.069305	0.99970	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	5.11	5.11	0.69529	.	1.074110	0.07212	N	0.859423	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	18.5267	0.90975	0.0:0.0:1.0:0.0	.	.	.	.	X	2234;1428;2232;2233;2235	.	ENSP00000277549:E1428X	E	+	1	0	CACNA1B	140135952	1.000000	0.71417	0.958000	0.39756	0.556000	0.35491	7.270000	0.78493	2.381000	0.81170	0.555000	0.69702	GAA	CACNA1B	-	NULL	ENSG00000148408		0.652	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	-	0	51	0	G	NM_000718		141016131	1	tier1	-	no_errors	ENST00000371355	ensembl	human	known	74_37	nonsense	42.86	16	12	SNP	0.998	T	T	141016131	G	T	141016131	4	4	120	1	0	0	0	0	0	1	0	0	2546	1059	37	2	6882	2	CACNA1B	9	141016131	Nonsense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	10019765	141016131	197300	93	31624											
MRC1	4360	genome.wustl.edu	37	chr10	17908632	17908632	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggcttatgggatgttttGaaatgtgatgaaaaggcaaa	13	11	15	2	0	0	3	0	3	0	0	0	4	0	4	0	4	0	3	0	4	5	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr10:17908632G>C	ENST00000331429.2	+	12	1948	c.1845G>C	c.(1843-1845)ttG>ttC	p.L615F																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGATGTTTTGAAATGTGATG	0.502																																																	0													6	7	7					10																	17908632		971	2966	3937	SO:0001583	missense	0																														ENST00000331429.2:c.1845G>C	10.37:g.17908632G>C	ENSP00000332124:p.Leu615Phe			Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.L615F	ENST00000331429.2	37	c.1845		10	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984971	0.53934	.	.	ENSG00000183748	ENST00000331429	T	0.19105	2.17	4.12	4.12	0.48240	.	0.683124	0.12139	U	0.496038	T	0.39118	0.1066	.	.	.	0.37601	D	0.920565	D	0.71674	0.998	D	0.71656	0.974	T	0.43653	-0.9378	8	0.39692	T	0.17	-29.2453	7.977	0.30161	0.198:0.0:0.802:0.0	.	615	B9EJA8	.	F	615	ENSP00000332124:L615F	ENSP00000332124:L615F	L	+	3	2	AL928580.1	17948638	1.000000	0.71417	0.987000	0.45799	0.986000	0.74619	1.182000	0.32029	2.016000	0.59253	0.552000	0.68991	TTG	MRC1L1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000183748		0.502	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	101928757	Clone_based_vega_gene	protein_coding	OTTHUMT00000047054.1	-	0	60	0	G			17908632	1	tier1	-	no_errors	ENST00000331429	ensembl	human	novel	74_37	missense	48.57	17	17	SNP	0.994	C	C	17908632	G	C	17908632	3	2	120	1	0	0	0	0	1	0	0	0	9794	1281	45	5	1891	5	MRC1	10	17908632	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		17908632	117626115	94	31625											
PTEN	5728	genome.wustl.edu	37	chr10	89712008	89712008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tattccaatgttcagtggcgGaacttgcagtaagtgcttga	10	13	11	7	1	1	1	1	1	0	0	2	2	2	2	1	2	3	4	1	2	4	6			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr10:89712008G>C	ENST00000371953.3	+	6	1983	c.626G>C	c.(625-627)gGa>gCa	p.G209A	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	209	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)		TTCAGTGGCGGAACTTGCAGT	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"	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)											144	143	144					10																	89712008		2203	4300	6503	SO:0001583	missense	0	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.626G>C	10.37:g.89712008G>C	ENSP00000361021:p.Gly209Ala		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.G209A	ENST00000371953.3	37	c.626	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993229	0.74703	.	.	ENSG00000171862	ENST00000371953	D	0.86562	-2.14	5.85	5.85	0.93711	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.150567	0.64402	D	0.000011	D	0.86301	0.5900	M	0.64567	1.98	0.80722	D	1	B	0.17852	0.024	B	0.28139	0.086	T	0.80765	-0.1236	9	.	.	.	-2.4963	15.6283	0.76882	0.0:0.1366:0.8634:0.0	.	209	P60484	PTEN_HUMAN	A	209	ENSP00000361021:G209A	.	G	+	2	0	PTEN	89701988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.412000	0.80091	2.777000	0.95525	0.585000	0.79938	GGA	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1		0	19	0	G	NM_000314		89712008	1			no_errors	ENST00000371953	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	C	C	89712008	G	C	89712008	3	2	120	1	0	0	0	0	1	0	0	0	12780	1174	41	5	648	5	PTEN	10	89712008	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	71803376	89712008	45822739	95	31626											
TLL2	7093	genome.wustl.edu	37	chr10	98136519	98136519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggctggggtatttgtcaGgccagttggggctcgccagg	4	10	17	10	2	1	0	1	0	0	0	3	0	2	0	3	7	0	4	3	7	1	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr10:98136519G>T	ENST00000357947.3	-	18	2603	c.2378C>A	c.(2377-2379)cCt>cAt	p.P793H		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	793	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTATTTGTCAGGCCAGTTGGG	0.537																																																	0													76	76	76					10																	98136519		2203	4300	6503	SO:0001583	missense	0			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2378C>A	10.37:g.98136519G>T	ENSP00000350630:p.Pro793His		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom	p.P793H	ENST00000357947.3	37	c.2378	CCDS7449.1	10	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032162	0.93575	.	.	ENSG00000095587	ENST00000357947	T	0.66099	-0.19	4.98	4.98	0.66077	CUB (5);	0.000000	0.45361	D	0.000366	D	0.89065	0.6609	H	0.99689	4.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93764	0.7069	10	0.87932	D	0	.	17.7923	0.88558	0.0:0.0:1.0:0.0	.	793	Q9Y6L7	TLL2_HUMAN	H	793	ENSP00000350630:P793H	ENSP00000350630:P793H	P	-	2	0	TLL2	98126509	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.601000	0.98297	2.746000	0.94184	0.655000	0.94253	CCT	TLL2	-	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000095587		0.537	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	-	0	72	0	G			98136519	-1	tier1	-	no_errors	ENST00000357947	ensembl	human	known	74_37	missense	51.85	26	28	SNP	1.000	T	T	98136519	G	T	98136519	3	4	120	1	0	0	0	0	1	0	0	0	15993	1000	35	3	685	3	TLL2	10	98136519	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	8424511	98136519	37398228	96	31627											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651712	1651712	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggatcatcctgctgccaAtccagctgctacaagccctg	8	10	9	14	0	1	0	1	0	0	0	3	1	3	1	4	1	6	3	4	1	3	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr11:1651712A>G	ENST00000399676.2	+	1	680	c.642A>G	c.(640-642)caA>caG	p.Q214Q		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	214	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)		CCTGCTGCCAATCCAGCTGCT	0.592																																																	0													113	119	117					11																	1651712		2202	4299	6501	SO:0001819	synonymous_variant	0			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.642A>G	11.37:g.1651712A>G			A8MWN2	Silent	SNP	NULL	p.Q214	ENST00000399676.2	37	c.642	CCDS41592.1	11																																																																																			KRTAP5-5	-	NULL	ENSG00000185940		0.592	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	HGNC	protein_coding	OTTHUMT00000127919.1	-	0	179	0	A			1651712	1	tier1	-	no_errors	ENST00000399676	ensembl	human	known	74_37	silent	10.81	132	16	SNP	0.996	G	G	1651712	A	G	1651712	2	3	120	1	0	0	0	0	0	0	0	1	8592	98	4	4		4	KRTAP5-5	11	1651712	Silent	SNP	A	TCGA-LN-A4MR-01A-11D-A28B-09		1651712	133354804	97	31628			1	32		2	2	12	N	AC_A	6.928798e-05
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651723	1651724	+	Missense_Mutation	DNP	AC	AC	GT																															ctgctgccaatccagctgctAcaagccctgctgctgccagt																										TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr11:1651723_1651724AC>GT	ENST00000399676.2	+	1	691_692	c.653_654AC>GT	c.(652-654)tAC>tGT	p.Y218C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	218	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)		TCCAGCTGCTACAAGCCCTGCT	0.594																																																	0																																										SO:0001583	missense	0			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	Exception_encountered	11.37:g.1651723_1651724delinsGT	ENSP00000382584:p.Tyr218Cys		A8MWN2	Missense_Mutation|Silent	SNP	NULL	p.Y218C|p.Y218	ENST00000399676.2	37	c.653|c.654	CCDS41592.1	11																																																																																			KRTAP5-5	-	NULL	ENSG00000185940		0.594	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	HGNC	protein_coding	OTTHUMT00000127919.1	-	0	182|180	0	A|C			1651723|1651724	1	tier1	-	no_errors	ENST00000399676	ensembl	human	known	74_37	missense|silent	10.97|10.26	138|140	17|16	SNP	0.999	G|T	GT	1651724	AC	GT	1651723	3	3	120	1	0	0	0	0	1	0	0	0	8592	391	14	4	655	4	KRTAP5-5	11	1651723	Missense_Mutation	DNP	AC	TCGA-LN-A4MR-01A-11D-A28B-09	11	1651723	133354793	98	31629			1	32		2	2	12	N	AC_A	6.928798e-05
CCDC34	91057	genome.wustl.edu	37	chr11	27384468	27384468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatccacgtcttcctcatCatccacgtcttcctcatcct	6	15	2	18	2	6	0	4	0	2	0	11	0	11	0	5	0	0	0	5	0	0	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr11:27384468C>T	ENST00000328697.6	-	1	947	c.274G>A	c.(274-276)Gat>Aat	p.D92N	CCDC34_ENST00000317945.6_Missense_Mutation_p.D92N	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	92	Asp-rich.									endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TCTTCCTCATCATCCACGTCT	0.582																																																	0													199	174	182					11																	27384468		2202	4299	6501	SO:0001583	missense	0			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.274G>A	11.37:g.27384468C>T	ENSP00000330240:p.Asp92Asn		B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	NULL	p.D92N	ENST00000328697.6	37	c.274	CCDS31448.1	11	.	.	.	.	.	.	.	.	.	.	-	15.34	2.803251	0.50315	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.21361	2.01;2.01	4.22	-1.21	0.09524	.	0.673781	0.13472	N	0.385375	T	0.07548	0.0190	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.10450	0.004;0.005	T	0.26573	-1.0099	10	0.35671	T	0.21	.	0.7583	0.01002	0.3237:0.3277:0.1581:0.1905	.	92;92	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	N	92	ENSP00000330240:D92N;ENSP00000321563:D92N	ENSP00000321563:D92N	D	-	1	0	CCDC34	27341044	0.014000	0.17966	0.158000	0.22627	0.226000	0.24999	-0.012000	0.12699	-0.206000	0.10203	-0.140000	0.14226	GAT	CCDC34	-	NULL	ENSG00000109881		0.582	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC34	HGNC	protein_coding	OTTHUMT00000388396.2	-	0	39	0	C	NM_030771		27384468	-1	tier1	-	no_errors	ENST00000328697	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.215	T	T	27384468	C	T	27384468	3	4	120	1	0	0	0	0	1	0	0	0	2814	826	29	3	955	3	CCDC34	11	27384468	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	25732745	27384468	107622048	99	31630											
F2	2147	genome.wustl.edu	37	chr11	46749672	46749672	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggacaagaacttcaccgaGaatgaccttctggtgcgcat	11	9	11	10	2	2	3	1	1	1	2	2	5	2	4	2	2	2	1	2	2	3	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr11:46749672G>A	ENST00000311907.5	+	10	1313	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	F2_ENST00000530231.1_Silent_p.E419E	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	419	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)	ACTTCACCGAGAATGACCTTC	0.632																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0													46	40	42					11																	46749672		2201	4299	6500	SO:0001819	synonymous_variant	0			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.1257G>A	11.37:g.46749672G>A			B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Silent	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.E419	ENST00000311907.5	37	c.1257	CCDS31476.1	11																																																																																			F2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1,prints_Prothrombin/thrombin	ENSG00000180210		0.632	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	HGNC	protein_coding	OTTHUMT00000317706.1	-	0	39	0	G			46749672	1	tier1	-	no_errors	ENST00000311907	ensembl	human	known	74_37	silent	37.50	25	15	SNP	0.000	A	A	46749672	G	A	46749672	2	1	120	1	0	0	0	0	0	0	0	1	5358	933	33	3		3	F2	11	46749672	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	19365204	46749672	88256844	100	31631											
SDHAF2	54949	genome.wustl.edu	37	chr11	61205246	61205246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagagaactgatgaatcCatagaaaccaaaagagcccg	18	4	10	9	1	0	5	0	2	0	3	1	7	1	6	3	1	3	0	3	1	6	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr11:61205246C>T	ENST00000543265.1	+	2	189	c.186C>T	c.(184-186)tcC>tcT	p.S62S	SDHAF2_ENST00000301761.2_Silent_p.S62S|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000537782.1_Silent_p.S62S|SDHAF2_ENST00000534878.1_Silent_p.S62S|RP11-286N22.8_ENST00000543044.1_Silent_p.S50S					succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						CTGATGAATCCATAGAAACCA	0.448																																																	0													107	115	112					11																	61205246		2202	4299	6501	SO:0001819	synonymous_variant	0			AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"Mitochondrial respiratory chain complex assembly factors"	26034	protein-coding gene	gene with protein product		613019	"paraganglioma or familial glomus tumors 2", "chromosome 11 open reading frame 79"	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000543265.1:c.186C>T	11.37:g.61205246C>T				Silent	SNP	pfam_SDH,superfamily_SDH	p.S62	ENST00000543265.1	37	c.186		11																																																																																			SDHAF2	-	superfamily_SDH	ENSG00000167985		0.448	SDHAF2-007	PUTATIVE	basic|exp_conf	protein_coding	SDHAF2	HGNC	protein_coding	OTTHUMT00000398484.1		0	12	0	C	NM_017841		61205246	1			no_errors	ENST00000301761	ensembl	human	known	74_37	silent	41.18	10	7	SNP	0.996	T	T	61205246	C	T	61205246	2	4	120	1	0	0	0	0	0	0	0	1	14009	581	21	3		3	SDHAF2	11	61205246	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	14455574	61205246	73801270	101	31632											
TIGD3	220359	genome.wustl.edu	37	chr11	65124656	65124656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctattcgaaaaattctaCgactgtgaggaggaggtgga	13	9	14	5	2	1	1	0	1	1	0	2	7	1	4	0	4	2	1	0	4	4	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr11:65124656C>T	ENST00000309880.5	+	2	1584	c.1377C>T	c.(1375-1377)taC>taT	p.Y459Y		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	459						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AAAAATTCTACGACTGTGAGG	0.567																																																	0													46	49	48					11																	65124656		2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1377C>T	11.37:g.65124656C>T				Silent	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.Y459	ENST00000309880.5	37	c.1377	CCDS8101.1	11																																																																																			TIGD3	-	NULL	ENSG00000173825		0.567	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD3	HGNC	protein_coding	OTTHUMT00000387310.1	-	0	57	0	C	NM_145719		65124656	1	tier1	-	no_errors	ENST00000309880	ensembl	human	known	74_37	silent	20.00	32	8	SNP	0.939	T	T	65124656	C	T	65124656	2	4	120	1	0	0	0	0	0	0	0	1	15944	547	19	1		1	TIGD3	11	65124656	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	3919410	65124656	69881860	102	31633											
RBM4	5936	genome.wustl.edu	37	chr11	66407231	66407231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccgggaggctacagagcagGagattcgctcactcttcgag	9	7	13	12	3	2	2	1	0	1	2	4	5	2	3	1	3	2	3	1	3	1	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr11:66407231G>C	ENST00000409406.1	+	1	826	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	RBM4_ENST00000514361.3_Intron|RBM4_ENST00000506523.2_Missense_Mutation_p.E17Q|RBM4_ENST00000310092.7_Missense_Mutation_p.E17Q|RBM4_ENST00000396053.4_Missense_Mutation_p.E17Q|RBM4_ENST00000398692.4_Missense_Mutation_p.E17Q|RBM4_ENST00000483858.1_Missense_Mutation_p.E17Q|RBM4_ENST00000408993.2_Missense_Mutation_p.E17Q|RBM4_ENST00000578778.1_Missense_Mutation_p.E17Q|RBM4_ENST00000503028.2_Missense_Mutation_p.E17Q|RBM4_ENST00000532968.1_Missense_Mutation_p.E17Q|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Missense_Mutation_p.E17Q|RBM14-RBM4_ENST00000412278.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	17	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TACAGAGCAGGAGATTCGCTC	0.502																																																	0													94	97	96					11																	66407231		2200	4295	6495	SO:0001583	missense	0			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.49G>C	11.37:g.66407231G>C	ENSP00000386894:p.Glu17Gln		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.E17Q	ENST00000409406.1	37	c.49	CCDS41676.1	11	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982825	0.93044	.	.	ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000503028;ENST00000514361;ENST00000310092;ENST00000396053;ENST00000408993;ENST00000483858;ENST00000398692;ENST00000510173;ENST00000506523;ENST00000530235;ENST00000532968;ENST00000409406	T;T;T;T;T;T;T;T;T;T;T;T	0.75704	-0.96;2.22;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	4.82	4.82	0.62117	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.85137	0.5628	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.999	D;D;D;D	0.81914	0.99;0.988;0.995;0.976	D	0.85430	0.1148	9	0.45353	T	0.12	-7.594	15.8408	0.78842	0.0:0.0:1.0:0.0	.	17;17;17;17	E7EQS3;Q9BWF3-3;Q9BWF3;Q9BWF3-2	.;.;RBM4_HUMAN;.	Q	17	ENSP00000425760:E17Q;ENSP00000425446:E17Q;ENSP00000309166:E17Q;ENSP00000413497:E17Q;ENSP00000386561:E17Q;ENSP00000435821:E17Q;ENSP00000381680:E17Q;ENSP00000422301:E17Q;ENSP00000423572:E17Q;ENSP00000432150:E17Q;ENSP00000432020:E17Q;ENSP00000386894:E17Q	ENSP00000425760:E17Q	E	+	1	0	RBM4;RBM14-RBM4	66163807	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.819000	0.86621	2.416000	0.81992	0.556000	0.70494	GAG	RBM4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000173933		0.502	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4	HGNC	protein_coding	OTTHUMT00000334212.1	-	0	133	0	G	NM_002896		66407231	1	tier1	-	no_errors	ENST00000310092	ensembl	human	known	74_37	missense	40.78	61	42	SNP	1.000	C	C	66407231	G	C	66407231	3	2	120	1	0	0	0	0	1	0	0	0	13179	1175	41	5	51	5	RBM4	11	66407231	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	1282575	66407231	68599285	103	31634											
FADD	8772	genome.wustl.edu	37	chr11	70049577	70049577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaccccgccatggacccgttCctggtgctgctgcactcggt	4	9	12	16	3	0	0	0	0	0	0	2	2	1	1	5	3	3	4	5	3	0	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr11:70049577C>G	ENST00000301838.4	+	1	309	c.12C>G	c.(10-12)ttC>ttG	p.F4L	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	4	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|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)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|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)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGGACCCGTTCCTGGTGCTGC	0.716																																																	0																																										SO:0001583	missense	0			U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"Fas-associating protein with death domain", "Fas-associating death domain-containing protein", "mediator of receptor-induced toxicity", "growth-inhibiting gene 3 protein"	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.12C>G	11.37:g.70049577C>G	ENSP00000301838:p.Phe4Leu		Q14866|Q6IBR4	Missense_Mutation	SNP	pfam_Death_domain,pfam_DED,superfamily_DEATH-like_dom,smart_DED,smart_Death_domain,pirsf_FADD,pfscan_Death_domain,pfscan_DED	p.F4L	ENST00000301838.4	37	c.12	CCDS8196.1	11	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555794	0.65425	.	.	ENSG00000168040	ENST00000301838	D	0.88354	-2.37	4.39	3.45	0.39498	DEATH-like (2);Death effector (3);	0.186314	0.46442	D	0.000295	D	0.89273	0.6668	M	0.84948	2.725	0.33603	D	0.602551	P	0.41313	0.745	B	0.42995	0.404	D	0.92535	0.6037	10	0.87932	D	0	-29.3963	7.5674	0.27887	0.0:0.8817:0.0:0.1183	.	4	Q13158	FADD_HUMAN	L	4	ENSP00000301838:F4L	ENSP00000301838:F4L	F	+	3	2	FADD	69727225	0.999000	0.42202	0.979000	0.43373	0.743000	0.42351	1.099000	0.31013	2.158000	0.67659	0.491000	0.48974	TTC	FADD	-	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pirsf_FADD,pfscan_DED	ENSG00000168040		0.716	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADD	HGNC	protein_coding	OTTHUMT00000393902.1	-	0	59	0	C	NM_003824		70049577	1	tier1	-	no_errors	ENST00000301838	ensembl	human	known	74_37	missense	5.38	246	14	SNP	0.868	G	G	70049577	C	G	70049577	3	3	120	1	0	0	0	0	1	0	0	0	5383	854	30	5	14	5	FADD	11	70049577	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	3642346	70049577	64956939	104	31635											
FADD	8772	genome.wustl.edu	37	chr11	70049640	70049640	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagctgaccgagctcaagttCctatgcctcgggcgcgtggg	6	8	15	12	4	1	1	1	1	0	0	3	3	2	1	3	2	3	3	3	2	2	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr11:70049640C>T	ENST00000301838.4	+	1	372	c.75C>T	c.(73-75)ttC>ttT	p.F25F	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	25	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|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)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|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)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGCTCAAGTTCCTATGCCTCG	0.677																																																	0													16	16	16					11																	70049640		2187	4265	6452	SO:0001819	synonymous_variant	0			U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"Fas-associating protein with death domain", "Fas-associating death domain-containing protein", "mediator of receptor-induced toxicity", "growth-inhibiting gene 3 protein"	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.75C>T	11.37:g.70049640C>T			Q14866|Q6IBR4	Silent	SNP	pfam_Death_domain,pfam_DED,superfamily_DEATH-like_dom,smart_DED,smart_Death_domain,pirsf_FADD,pfscan_Death_domain,pfscan_DED	p.F25	ENST00000301838.4	37	c.75	CCDS8196.1	11																																																																																			FADD	-	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pirsf_FADD,pfscan_DED	ENSG00000168040		0.677	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADD	HGNC	protein_coding	OTTHUMT00000393902.1	-	0	70	0	C	NM_003824		70049640	1	tier1	-	no_errors	ENST00000301838	ensembl	human	known	74_37	silent	6.76	331	24	SNP	0.999	T	T	70049640	C	T	70049640	2	4	120	1	0	0	0	0	0	0	0	1	5383	854	30	3		3	FADD	11	70049640	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	63	70049640	64956876	105	31636											
CCDC67	159989	genome.wustl.edu	37	chr11	93141459	93141459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaataaactgcaatatgaGaatgaaaggctccgaaatga	19	9	8	5	1	0	3	0	3	0	1	1	5	1	3	1	1	2	2	1	1	8	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr11:93141459G>A	ENST00000298050.3	+	12	1489	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	AP004242.1_ENST00000408638.1_RNA|CCDC67_ENST00000525646.1_Silent_p.E205E	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	463					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TGCAATATGAGAATGAAAGGC	0.353																																																	0													42	37	39					11																	93141459		1817	4085	5902	SO:0001819	synonymous_variant	0			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1389G>A	11.37:g.93141459G>A			Q8NEF1|Q96LL7	Silent	SNP	superfamily_MHC_II-assoc_invariant_trimer	p.E463	ENST00000298050.3	37	c.1389	CCDS44707.1	11																																																																																			CCDC67	-	NULL	ENSG00000165325		0.353	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	HGNC	protein_coding		-	0	29	0	G	NM_181645		93141459	1	tier1	-	no_errors	ENST00000298050	ensembl	human	known	74_37	silent	42.11	11	8	SNP	1.000	A	A	93141459	G	A	93141459	2	1	120	1	0	0	0	0	0	0	0	1	2846	933	33	3		3	CCDC67	11	93141459	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	23091819	93141459	41865057	106	31637											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103158284	103158284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttgtagtacaggcgctaaGaccggacagattgcaaagtg	12	9	12	8	2	1	2	0	0	1	2	1	3	1	3	1	2	2	4	1	2	4	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr11:103158284G>C	ENST00000375735.2	+	75	11189	c.11045G>C	c.(11044-11046)aGa>aCa	p.R3682T	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3689T|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	3682					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)		CAGGCGCTAAGACCGGACAGA	0.333																																																	0													96	90	92					11																	103158284		1827	4081	5908	SO:0001583	missense	0			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.11045G>C	11.37:g.103158284G>C	ENSP00000364887:p.Arg3682Thr		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R3689T	ENST00000375735.2	37	c.11066	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892712	0.91889	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.18657	2.2;2.2	5.79	5.79	0.91817	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.66292	-0.5960	10	0.72032	D	0.01	.	19.6264	0.95679	0.0:0.0:1.0:0.0	.	3682;3689	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	T	3682;3689	ENSP00000364887:R3682T;ENSP00000381167:R3689T	ENSP00000364887:R3682T	R	+	2	0	DYNC2H1	102663494	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.711000	0.84669	2.746000	0.94184	0.655000	0.94253	AGA	DYNC2H1	-	pfam_Dynein_heavy_dom	ENSG00000187240		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	42	0	G	XM_370652		103158284	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	67.86	9	19	SNP	1.000	C	C	103158284	G	C	103158284	3	2	120	1	0	0	0	0	1	0	0	0	4860	942	33	5	11368	5	DYNC2H1	11	103158284	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	10016825	103158284	31848232	107	31638											
ATN1	1822	genome.wustl.edu	37	chr12	7046294	7046294	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacggtcattgccaccgtgGcttcctcgccagcaggctac	6	8	10	17	3	1	0	1	0	0	0	3	0	2	0	5	3	3	3	5	3	1	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr12:7046294G>C	ENST00000356654.4	+	5	2101	c.1864G>C	c.(1864-1866)Gct>Cct	p.A622P	ATN1_ENST00000396684.2_Missense_Mutation_p.A622P	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	622					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						TGCCACCGTGGCTTCCTCGCC	0.677																																																	0													54	60	58					12																	7046294		2203	4300	6503	SO:0001583	missense	0			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.1864G>C	12.37:g.7046294G>C	ENSP00000349076:p.Ala622Pro		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.A622P	ENST00000356654.4	37	c.1864	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	g	11.07	1.529432	0.27387	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.54071	0.59;0.59;0.59	3.6	2.7	0.31948	.	0.000000	0.33772	U	0.004567	T	0.54515	0.1863	L	0.54323	1.7	0.52099	D	0.99994	D	0.58970	0.984	P	0.60012	0.867	T	0.58691	-0.7592	10	0.02654	T	1	.	9.5803	0.39484	0.1:0.0:0.9:0.0	.	622	P54259	ATN1_HUMAN	P	622;622;622;207	ENSP00000349076:A622P;ENSP00000379915:A622P;ENSP00000441744:A622P	ENSP00000229279:A207P	A	+	1	0	ATN1	6916555	1.000000	0.71417	0.999000	0.59377	0.286000	0.27126	1.353000	0.34045	0.865000	0.35603	0.586000	0.80456	GCT	ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.677	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	-	0	29	0	G	NM_001940		7046294	1	tier1	-	no_errors	ENST00000356654	ensembl	human	known	74_37	missense	59.57	19	28	SNP	0.984	C	C	7046294	G	C	7046294	3	2	120	1	0	0	0	0	1	0	0	0	1112	1203	42	5	1878	5	ATN1	12	7046294	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		7046294	126805601	108	31639											
PRB4	5545	genome.wustl.edu	37	chr12	11461530	11461530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgggggacggtgggactgGttgcctccttgtgggggtgg	2	10	23	6	1	0	0	0	0	0	0	1	2	1	2	2	9	1	1	2	9	0	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr12:11461530G>T	ENST00000535904.1	-	3	420	c.387C>A	c.(385-387)aaC>aaA	p.N129K	PRB4_ENST00000279575.1_Missense_Mutation_p.N129K|PRB4_ENST00000445719.2_Intron			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	150	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).	H -> N (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGTGGGACTGGTTGCCTCCTT	0.602										HNSCC(22;0.051)																																							0													172	192	185					12																	11461530		2203	4300	6503	SO:0001583	missense	0				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.387C>A	12.37:g.11461530G>T	ENSP00000442834:p.Asn129Lys		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	NULL	p.N129K	ENST00000535904.1	37	c.387	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	1.058	-0.673676	0.03403	.	.	ENSG00000230657	ENST00000279575;ENST00000535904	T;T	0.04502	3.61;3.61	0.904	-0.863	0.10669	.	.	.	.	.	T	0.04634	0.0126	L	0.57536	1.79	0.09310	N	1	P	0.44344	0.833	B	0.38194	0.267	T	0.33240	-0.9876	9	0.33940	T	0.23	.	3.219	0.06708	0.5474:0.0:0.4526:0.0	.	129	E9PAL0	.	K	129	ENSP00000279575:N129K;ENSP00000442834:N129K	ENSP00000279575:N129K	N	-	3	2	PRB4	11352797	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.907000	0.04067	-0.292000	0.08999	0.394000	0.25966	AAC	PRB4	-	NULL	ENSG00000230657		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	-	0	109	0	G	NM_002723		11461530	-1	tier1	-	no_errors	ENST00000279575	ensembl	human	known	74_37	missense	13.77	144	23	SNP	0.000	T	T	11461530	G	T	11461530	3	4	120	1	0	0	0	0	1	0	0	0	12487	1252	44	3	360	3	PRB4	12	11461530	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	4415236	11461530	122390365	109	31640											
PLBD1	79887	genome.wustl.edu	37	chr12	14659951	14659951	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattttggctcgtggagctaAatcataagagtagtccaagc	13	11	10	7	1	1	1	1	0	0	1	3	2	2	2	1	2	2	3	1	2	6	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr12:14659951A>C	ENST00000240617.5	-	9	1940	c.1288T>G	c.(1288-1290)Tta>Gta	p.L430V		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	430					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CGTGGAGCTAAATCATAAGAG	0.428																																																	0													126	116	119					12																	14659951		2203	4300	6503	SO:0001583	missense	0			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1288T>G	12.37:g.14659951A>C	ENSP00000240617:p.Leu430Val		A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	pfam_PLipase_B-like	p.L430V	ENST00000240617.5	37	c.1288	CCDS31751.1	12	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004011	0.74932	.	.	ENSG00000121316	ENST00000240617	T	0.17528	2.27	5.54	2.26	0.28386	.	0.129438	0.53938	D	0.000053	T	0.35307	0.0927	M	0.90595	3.13	0.35326	D	0.785151	P	0.45768	0.866	P	0.54174	0.744	T	0.39292	-0.9621	10	0.59425	D	0.04	-3.5604	4.9011	0.13775	0.1323:0.0:0.2228:0.645	.	430	Q6P4A8	PLBL1_HUMAN	V	430	ENSP00000240617:L430V	ENSP00000240617:L430V	L	-	1	2	PLBD1	14551218	0.995000	0.38212	0.973000	0.42090	0.987000	0.75469	2.368000	0.44222	0.093000	0.17368	0.533000	0.62120	TTA	PLBD1	-	pfam_PLipase_B-like	ENSG00000121316		0.428	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1	-	0	35	0	A	NM_024829		14659951	-1	tier1	-	no_errors	ENST00000240617	ensembl	human	known	74_37	missense	15.52	49	9	SNP	0.963	C	C	14659951	A	C	14659951	3	2	120	1	0	0	0	0	1	0	0	0	12064	11	1	4	385	4	PLBD1	12	14659951	Missense_Mutation	SNP	A	TCGA-LN-A4MR-01A-11D-A28B-09	3198421	14659951	119191944	110	31641											
PTPRO	5800	genome.wustl.edu	37	chr12	15739974	15739974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagcaaaggtcccatgatCattcactgcaggtaacctca	14	8	8	11	0	3	2	3	1	0	1	4	2	4	2	2	2	3	3	2	2	3	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr12:15739974C>T	ENST00000281171.4	+	24	3729	c.3399C>T	c.(3397-3399)atC>atT	p.I1133I	PTPRO_ENST00000544244.1_Silent_p.I294I|PTPRO_ENST00000542557.1_Silent_p.I294I|PTPRO_ENST00000348962.2_Silent_p.I1105I|PTPRO_ENST00000442921.2_Silent_p.I322I|PTPRO_ENST00000445537.2_Silent_p.I322I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1133	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)				GTCCCATGATCATTCACTGCA	0.453																																																	0													130	105	114					12																	15739974		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3399C>T	12.37:g.15739974C>T			A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.I1133	ENST00000281171.4	37	c.3399	CCDS8675.1	12																																																																																			PTPRO	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000151490		0.453	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	-	0	44	0	C			15739974	1	tier1	-	no_errors	ENST00000281171	ensembl	human	known	74_37	silent	21.88	25	7	SNP	1.000	T	T	15739974	C	T	15739974	2	4	120	1	0	0	0	0	0	0	0	1	12854	816	29	3		3	PTPRO	12	15739974	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	1080023	15739974	118111921	111	31642											
SSPN	8082	genome.wustl.edu	37	chr12	26383707	26383707	+	Frame_Shift_Del	DEL	G	G	-																															tgctggccgtggcctttgccGcccaccactattcgcagctc																								rs374423870		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr12:26383707delG	ENST00000242729.2	+	3	607	c.430delG	c.(430-432)gccfs	p.A144fs	RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000422622.2_Frame_Shift_Del_p.A41fs|RP11-283G6.5_ENST00000541940.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000535504.1_Intron|SSPN_ENST00000540266.1_Frame_Shift_Del_p.A41fs|RP11-283G6.5_ENST00000540625.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	144					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					GGCCTTTGCCGCCCACCACTA	0.547																																																	0													91	85	87					12																	26383707		2203	4300	6503	SO:0001589	frameshift_variant	0			AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"Kras oncogene-associated gene"	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.430delG	12.37:g.26383707delG	ENSP00000242729:p.Ala144fs		B3KS67	Frame_Shift_Del	DEL	pfam_CD20-like	p.A144fs	ENST00000242729.2	37	c.430	CCDS8707.1	12																																																																																			SSPN	-	pfam_CD20-like	ENSG00000123096		0.547	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSPN	HGNC	protein_coding	OTTHUMT00000402654.2		0	36	0	G	NM_005086		26383707	1	tier1		no_errors	ENST00000242729	ensembl	human	known	74_37	frame_shift_del	19.61	41	10	DEL	0.998	-	-	26383707	G	-	26383707	7	5	120	1	0	1	0	1	0	0	0	0	15235	1087	38	0	440	0	SSPN	12	26383707	Frame_Shift_Del	DEL	G	TCGA-LN-A4MR-01A-11D-A28B-09	10643733	26383707	107468188	112	31643											
ACTR6	64431	genome.wustl.edu	37	chr12	100603884	100603884	+	Missense_Mutation	SNP	A	A	G	1	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	tgcacataggtatttccgagAtaatccttccgaattatgct	11	14	7	9	2	0	1	0	0	0	1	3	3	3	1	3	1	2	3	3	1	5	6			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr12:100603884A>G	ENST00000188312.2	+	5	1178	c.413A>G	c.(412-414)gAt>gGt	p.D138G	ACTR6_ENST00000551617.1_Missense_Mutation_p.D56G|ACTR6_ENST00000546902.1_Missense_Mutation_p.D56G|ACTR6_ENST00000552376.1_Missense_Mutation_p.D138G	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	138						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TATTTCCGAGATAATCCTTCC	0.294																																																	0													126	119	122					12																	100603884		2203	4299	6502	SO:0001583	missense	0			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.413A>G	12.37:g.100603884A>G	ENSP00000188312:p.Asp138Gly		B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.D138G	ENST00000188312.2	37	c.413	CCDS9074.1	12	.	.	.	.	.	.	.	.	.	.	A	14.76	2.632430	0.46944	.	.	ENSG00000075089	ENST00000551652;ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	5.2	5.2	0.72013	.	0.274200	0.41294	D	0.000908	D	0.89301	0.6676	L	0.31476	0.935	0.80722	D	1	B;B;B	0.13145	0.007;0.002;0.002	B;B;B	0.12156	0.004;0.004;0.007	D	0.86089	0.1549	10	0.62326	D	0.03	.	15.5171	0.75833	1.0:0.0:0.0:0.0	.	56;138;138	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	G	150;138;56;138;56	ENSP00000448508:D150G;ENSP00000188312:D138G;ENSP00000448669:D56G;ENSP00000447237:D138G;ENSP00000448356:D56G	ENSP00000188312:D138G	D	+	2	0	ACTR6	99128015	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.469000	0.60169	2.299000	0.77371	0.528000	0.53228	GAT	ACTR6	-	pfam_Actin-related,smart_Actin-related	ENSG00000075089		0.294	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	HGNC	protein_coding	OTTHUMT00000408159.1	-	0	51	0	A	NM_022496		100603884	1	tier1	-	no_errors	ENST00000188312	ensembl	human	known	74_37	missense	17.07	34	7	SNP	1.000	G	G	100603884	A	G	100603884	3	3	120	1	0	0	0	0	1	0	0	0	216	333	12	4	431	4	ACTR6	12	100603884	Missense_Mutation	SNP	A	TCGA-LN-A4MR-01A-11D-A28B-09	74220177	100603884	33248011	113	31644											
CCDC62	84660	genome.wustl.edu	37	chr12	123286164	123286164	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagaatgtcaagatcagatgGaaaggtccgaaatctcatgc	15	9	10	7	1	3	3	3	0	1	3	5	5	4	4	1	2	1	0	1	2	5	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr12:123286164G>T	ENST00000253079.6	+	9	1815	c.1471G>T	c.(1471-1473)Gaa>Taa	p.E491*	CCDC62_ENST00000537566.1_Nonsense_Mutation_p.E252*|CCDC62_ENST00000392441.4_Nonsense_Mutation_p.E491*|CCDC62_ENST00000392440.2_Nonsense_Mutation_p.E252*	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	491					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)		AGATCAGATGGAAAGGTCCGA	0.468																																																	0													70	65	67					12																	123286164		2203	4300	6503	SO:0001587	stop_gained	0				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.1471G>T	12.37:g.123286164G>T	ENSP00000253079:p.Glu491*		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.E491*	ENST00000253079.6	37	c.1471	CCDS9238.1	12	.	.	.	.	.	.	.	.	.	.	G	47	13.577264	0.99750	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	.	.	.	5.34	4.43	0.53597	.	0.804035	0.10799	N	0.632862	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.2648	11.8953	0.52654	0.0:0.1758:0.8242:0.0	.	.	.	.	X	491;491;252;252	.	ENSP00000253079:E491X	E	+	1	0	CCDC62	121852117	0.025000	0.19082	0.006000	0.13384	0.582000	0.36321	1.829000	0.39121	1.213000	0.43380	0.591000	0.81541	GAA	CCDC62	-	NULL	ENSG00000130783		0.468	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1	-	0	61	0	G	NM_032573		123286164	1	tier1	-	no_errors	ENST00000253079	ensembl	human	known	74_37	nonsense	20.83	38	10	SNP	0.011	T	T	123286164	G	T	123286164	4	4	120	1	0	0	0	0	0	1	0	0	2840	1175	41	3	1505	3	CCDC62	12	123286164	Nonsense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	22682280	123286164	10565731	114	31645											
SACS	26278	genome.wustl.edu	37	chr13	23914586	23914586	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcatctttccttcagatgaTtgcaacagtgtgtgattctt	8	17	8	8	0	4	3	2	2	2	1	5	3	5	3	1	0	2	1	1	0	1	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr13:23914586T>A	ENST00000382292.3	-	9	3702	c.3429A>T	c.(3427-3429)caA>caT	p.Q1143H	SACS_ENST00000382298.3_Missense_Mutation_p.Q1143H|SACS_ENST00000402364.1_Missense_Mutation_p.Q393H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1143					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)		CTTCAGATGATTGCAACAGTG	0.418																																																	0													100	102	101					13																	23914586		2203	4300	6503	SO:0001583	missense	0			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.3429A>T	13.37:g.23914586T>A	ENSP00000371729:p.Gln1143His		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.Q1143H	ENST00000382292.3	37	c.3429	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	T	3.342	-0.134294	0.06711	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88201	-2.2;-2.35;-2.2	6.16	1.48	0.22813	.	0.237683	0.44285	N	0.000472	T	0.77678	0.4166	L	0.31294	0.92	0.28073	N	0.932499	B	0.02656	0.0	B	0.04013	0.001	T	0.63730	-0.6571	10	0.40728	T	0.16	.	2.5099	0.04654	0.1058:0.4481:0.2059:0.2402	.	1143	Q9NZJ4	SACS_HUMAN	H	1143;393;1143	ENSP00000371729:Q1143H;ENSP00000385844:Q393H;ENSP00000371735:Q1143H	ENSP00000371729:Q1143H	Q	-	3	2	SACS	22812586	0.973000	0.33851	0.804000	0.32291	0.099000	0.18886	0.166000	0.16583	-0.037000	0.13646	-1.090000	0.02178	CAA	SACS	-	NULL	ENSG00000151835		0.418	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	27	0	T	NM_014363		23914586	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	32.50	27	13	SNP	0.975	A	A	23914586	T	A	23914586	3	1	120	1	0	0	0	0	1	0	0	0	13849	1490	52	5	10314	5	SACS	13	23914586	Missense_Mutation	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09		23914586	91255292	115	31646											
PARP4	143	genome.wustl.edu	37	chr13	25058793	25058793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaaggatcgaacatacctGagcgaatcactgaaataaat	18	9	7	7	2	1	2	1	2	0	0	2	5	1	3	1	1	3	0	1	1	7	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr13:25058793G>A	ENST00000381989.3	-	12	1551	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	482	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAACATACCTGAGCGAATCAC	0.418																																																	0													185	167	173					13																	25058793		2203	4300	6503	SO:0001819	synonymous_variant	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1446C>T	13.37:g.25058793G>A			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.L482	ENST00000381989.3	37	c.1446	CCDS9307.1	13																																																																																			PARP4	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000102699		0.418	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	-	0	89	0	G	NM_006437		25058793	-1	tier1	-	no_errors	ENST00000381989	ensembl	human	known	74_37	silent	26.44	64	23	SNP	0.998	A	A	25058793	G	A	25058793	2	1	120	1	0	0	0	0	0	0	0	1	11502	1277	45	3		3	PARP4	13	25058793	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	1144207	25058793	90111085	116	31647											
RNF17	56163	genome.wustl.edu	37	chr13	25418011	25418011	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctacctaatgagaattttcaGtcactttataataaggaatt	15	15	5	6	0	2	1	2	1	0	1	2	3	2	2	1	1	1	0	1	1	7	9			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr13:25418011G>T	ENST00000255324.5	+	20	2785	c.2733G>T	c.(2731-2733)caG>caT	p.Q911H	RNF17_ENST00000381921.1_Missense_Mutation_p.Q911H|RNF17_ENST00000339524.3_5'Flank	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	911					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)		AGAATTTTCAGTCACTTTATA	0.318																																																	0													56	58	58					13																	25418011		2203	4293	6496	SO:0001583	missense	0			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.2733G>T	13.37:g.25418011G>T	ENSP00000255324:p.Gln911His		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.Q911H	ENST00000255324.5	37	c.2733	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821972	0.50739	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.12569	3.45;3.45;2.67	4.72	-3.44	0.04796	.	0.309106	0.25674	N	0.029048	T	0.18964	0.0455	L	0.29908	0.895	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.993	P;D;P	0.68483	0.804;0.958;0.79	T	0.00025	-1.2320	10	0.40728	T	0.16	-10.0356	12.668	0.56853	0.7311:0.0:0.2689:0.0	.	911;911;911	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	H	911;911;770;235	ENSP00000255324:Q911H;ENSP00000371346:Q911H;ENSP00000388892:Q235H	ENSP00000255324:Q911H	Q	+	3	2	RNF17	24316011	0.180000	0.23148	0.793000	0.32043	0.931000	0.56810	-0.481000	0.06552	-0.980000	0.03524	-0.218000	0.12543	CAG	RNF17	-	NULL	ENSG00000132972		0.318	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	-	0	59	0	G	NM_031994		25418011	1	tier1	-	no_errors	ENST00000255324	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.827	T	T	25418011	G	T	25418011	3	4	120	1	0	0	0	0	1	0	0	0	13506	1020	36	3	2811	3	RNF17	13	25418011	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	359218	25418011	89751867	117	31648											
RNF6	6049	genome.wustl.edu	37	chr13	26788056	26788056	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggtcaatacaatgaatgtGaaattcatgcatgcaaggta	15	11	9	6	1	2	2	2	2	0	0	3	2	2	2	0	2	3	3	0	2	7	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr13:26788056G>C	ENST00000381588.4	-	5	2715	c.1963C>G	c.(1963-1965)Cac>Gac	p.H655D	RNF6_ENST00000346166.3_Missense_Mutation_p.H655D|RNF6_ENST00000399762.2_Missense_Mutation_p.H299D|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.H655D	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	655	Required for polyubiquitination. {ECO:0000250}.				negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CAATGAATGTGAAATTCATGC	0.398																																																	0													146	132	137					13																	26788056		2203	4300	6503	SO:0001583	missense	0			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1963C>G	13.37:g.26788056G>C	ENSP00000371000:p.His655Asp		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H655D	ENST00000381588.4	37	c.1963	CCDS9316.1	13	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033855	0.75504	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	4.95	4.95	0.65309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.88764	0.6525	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.954	D	0.89952	0.4080	10	0.87932	D	0	-19.9229	18.7242	0.91708	0.0:0.0:1.0:0.0	.	299;655	B4DDP0;Q9Y252	.;RNF6_HUMAN	D	655;655;655;299	ENSP00000342121:H655D;ENSP00000371000:H655D;ENSP00000370982:H655D;ENSP00000382665:H299D	ENSP00000342121:H655D	H	-	1	0	RNF6	25686056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.099000	0.94207	2.728000	0.93425	0.557000	0.71058	CAC	RNF6	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000127870		0.398	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	HGNC	protein_coding	OTTHUMT00000044246.2	-	0	33	0	G	NM_005977		26788056	-1	tier1	-	no_errors	ENST00000346166	ensembl	human	known	74_37	missense	59.09	9	13	SNP	1.000	C	C	26788056	G	C	26788056	3	2	120	1	0	0	0	0	1	0	0	0	13543	1290	45	5	98	5	RNF6	13	26788056	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	1370045	26788056	88381822	118	31649											
KPNA3	3839	genome.wustl.edu	37	chr13	50366638	50366638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctccaagctggggttctcgGccatggctgcgcgcggctcc	3	9	14	15	4	2	0	0	0	2	0	5	0	3	0	3	5	2	4	3	5	1	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr13:50366638G>T	ENST00000261667.3	-	1	419	c.5C>A	c.(4-6)gCc>gAc	p.A2D		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	2	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-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;1.42e-09)		GGGGTTCTCGGCCATGGCTGC	0.711																																																	0													56	57	56					13																	50366638		2203	4300	6503	SO:0001583	missense	0			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"Importins", "Armadillo repeat containing"	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.5C>A	13.37:g.50366638G>T	ENSP00000261667:p.Ala2Asp		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.A2D	ENST00000261667.3	37	c.5	CCDS9421.1	13	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103646	0.76983	.	.	ENSG00000102753	ENST00000261667	T	0.09445	2.98	3.87	2.08	0.27032	Importin-alpha, importin-beta-binding domain (1);	0.066672	0.64402	U	0.000016	T	0.08088	0.0202	N	0.08118	0	0.58432	D	0.999994	D	0.54047	0.964	P	0.50970	0.655	T	0.30297	-0.9983	10	0.87932	D	0	-3.8665	7.056	0.25099	0.0964:0.0:0.7332:0.1703	.	2	O00505	IMA3_HUMAN	D	2	ENSP00000261667:A2D	ENSP00000261667:A2D	A	-	2	0	KPNA3	49264639	1.000000	0.71417	0.983000	0.44433	0.935000	0.57460	7.242000	0.78210	0.140000	0.18849	0.446000	0.29264	GCC	KPNA3	-	pfscan_Importin-a_IBB	ENSG00000102753		0.711	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2	-	0	61	0	G	NM_002267		50366638	-1	tier1	-	no_errors	ENST00000261667	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	50366638	G	T	50366638	3	4	120	1	0	0	0	0	1	0	0	0	8458	1203	42	3	1628	3	KPNA3	13	50366638	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	23578582	50366638	64803240	119	31650											
NIN	51199	genome.wustl.edu	37	chr14	51224041	51224041	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggattctctcaagcatcTtcagtttcttttttagcaca	9	16	6	10	0	5	0	2	0	3	0	6	1	5	1	0	1	2	3	0	1	2	6			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr14:51224041T>A	ENST00000382041.3	-	18	3897	c.3707A>T	c.(3706-3708)aAg>aTg	p.K1236M	NIN_ENST00000245441.5_Missense_Mutation_p.K1236M|NIN_ENST00000324330.9_Missense_Mutation_p.K1236M|NIN_ENST00000453196.1_Missense_Mutation_p.K1236M|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.K1236M	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1236					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)					CTCAAGCATCTTCAGTTTCTT	0.418			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													114	119	117					14																	51224041		2203	4300	6503	SO:0001583	missense	0			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.3707A>T	14.37:g.51224041T>A	ENSP00000371472:p.Lys1236Met		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.K1236M	ENST00000382041.3	37	c.3707	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.93|13.93	2.382935|2.382935	0.42207|0.42207	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T|T;T;T;T	0.05855|0.10005	3.38|3.19;2.93;2.92;2.93	6.06|6.06	3.7|3.7	0.42460|0.42460	.|.	.|0.443695	.|0.24089	.|N	.|0.041643	T|T	0.24851|0.24851	0.0603|0.0603	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.997;0.998;0.999	.|D;P;P;D	.|0.65874	.|0.919;0.891;0.847;0.939	T|T	0.05869|0.05869	-1.0859|-1.0859	6|10	.|0.62326	.|D	.|0.03	-11.4047|-11.4047	6.903|6.903	0.24293|0.24293	0.0:0.288:0.0:0.712|0.0:0.288:0.0:0.712	.|.	.|1242;1236;1236;1236	.|Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7	.|.;.;NIN_HUMAN;.	D|M	726|1236;1219;1242;1236;1236;1236	ENSP00000436092:E726D|ENSP00000245441:K1236M;ENSP00000371472:K1236M;ENSP00000324210:K1236M;ENSP00000412391:K1236M	.|ENSP00000245441:K1236M	E|K	-|-	3|2	2|0	NIN|NIN	50293791|50293791	0.059000|0.059000	0.20769|0.20769	0.040000|0.040000	0.18447|0.18447	0.815000|0.815000	0.46073|0.46073	0.646000|0.646000	0.24797|0.24797	0.528000|0.528000	0.28580|0.28580	0.533000|0.533000	0.62120|0.62120	GAA|AAG	NIN	-	NULL	ENSG00000100503		0.418	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	-	0	30	0	T	NM_182946		51224041	-1	tier1	-	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	30.00	28	12	SNP	0.052	A	A	51224041	T	A	51224041	3	1	120	1	0	0	0	0	1	0	0	0	10456	1609	56	5	2898	5	NIN	14	51224041	Missense_Mutation	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09		51224041	56125499	120	31651											
PTGER2	5732	genome.wustl.edu	37	chr14	52782053	52782053	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggaggagacggaccacCtcattctcctggctatcatg	8	9	12	12	2	3	1	2	0	1	1	4	4	3	3	3	5	0	1	3	5	1	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr14:52782053C>G	ENST00000245457.5	+	1	941	c.787C>G	c.(787-789)Ctc>Gtc	p.L263V	PTGER2_ENST00000557436.1_Missense_Mutation_p.L8V	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	263					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GACGGACCACCTCATTCTCCT	0.657																																																	0													51	56	54					14																	52782053		2203	4299	6502	SO:0001583	missense	0				CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"GPCR / Class A : Prostanoid receptors"	9594	protein-coding gene	gene with protein product		176804	"prostaglandin E receptor 2 (subtype EP2), 53kD"			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.787C>G	14.37:g.52782053C>G	ENSP00000245457:p.Leu263Val		D3DSC0|Q52LG8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.L263V	ENST00000245457.5	37	c.787	CCDS9708.1	14	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950195	0.73787	.	.	ENSG00000125384	ENST00000557436;ENST00000245457	T;T	0.71934	-0.61;-0.61	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	L	0.41824	1.3	0.50039	D	0.999841	D	0.76494	0.999	D	0.68943	0.961	T	0.77456	-0.2581	10	0.45353	T	0.12	-23.7471	15.5772	0.76400	0.0:1.0:0.0:0.0	.	263	P43116	PE2R2_HUMAN	V	8;263	ENSP00000450933:L8V;ENSP00000245457:L263V	ENSP00000245457:L263V	L	+	1	0	PTGER2	51851803	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.155000	0.50700	2.359000	0.80004	0.561000	0.74099	CTC	PTGER2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000125384		0.657	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER2	HGNC	protein_coding	OTTHUMT00000276890.1	-	0	32	0	C			52782053	1	tier1	-	no_errors	ENST00000245457	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	G	G	52782053	C	G	52782053	3	3	120	1	0	0	0	0	1	0	0	0	12786	681	24	5	789	5	PTGER2	14	52782053	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	1558012	52782053	54567487	121	31652											
KTN1	3895	genome.wustl.edu	37	chr14	56120290	56120290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcaggcctcttctgcatCacagtttgaagaacttgaga	10	13	8	10	0	4	3	2	2	3	2	5	4	4	3	1	1	2	2	1	1	2	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr14:56120290C>T	ENST00000395314.3	+	28	2845	c.2777C>T	c.(2776-2778)tCa>tTa	p.S926L	Y_RNA_ENST00000363872.1_RNA|KTN1_ENST00000413890.2_Missense_Mutation_p.S903L|KTN1_ENST00000395309.3_Missense_Mutation_p.S926L|KTN1_ENST00000395308.1_Missense_Mutation_p.S903L|KTN1_ENST00000438792.2_Missense_Mutation_p.S926L|KTN1_ENST00000395311.1_Missense_Mutation_p.S903L|KTN1_ENST00000554507.1_Missense_Mutation_p.S221L|KTN1_ENST00000416613.1_Missense_Mutation_p.S926L	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	926					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TCTTCTGCATCACAGTTTGAA	0.343			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													93	89	91					14																	56120290		2203	4299	6502	SO:0001583	missense	0				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2777C>T	14.37:g.56120290C>T	ENSP00000378725:p.Ser926Leu		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.S926L	ENST00000395314.3	37	c.2777	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501687	0.26949	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507	T;T;T;T;T;T;T;T	0.46819	1.4;1.46;1.45;1.46;1.4;1.4;1.46;0.86	5.07	4.17	0.49024	.	0.169925	0.28057	N	0.016768	T	0.36771	0.0979	N	0.21448	0.665	0.30807	N	0.739216	B;B;P;B;B	0.40875	0.041;0.186;0.731;0.041;0.019	B;B;P;B;B	0.45232	0.032;0.106;0.474;0.032;0.023	T	0.25745	-1.0123	10	0.24483	T	0.36	-0.9758	10.6415	0.45596	0.0:0.9106:0.0:0.0894	.	926;221;926;903;926	B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;KTN1_HUMAN	L	903;926;926;926;903;903;926;221	ENSP00000394992:S903L;ENSP00000378720:S926L;ENSP00000391964:S926L;ENSP00000378725:S926L;ENSP00000378719:S903L;ENSP00000378722:S903L;ENSP00000388807:S926L;ENSP00000452073:S221L	ENSP00000378719:S903L	S	+	2	0	KTN1	55190043	1.000000	0.71417	0.947000	0.38551	0.415000	0.31203	2.199000	0.42715	2.509000	0.84616	0.557000	0.71058	TCA	KTN1	-	NULL	ENSG00000126777		0.343	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	-	0	29	0	C			56120290	1	tier1	-	no_errors	ENST00000395309	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	T	T	56120290	C	T	56120290	3	4	120	1	0	0	0	0	1	0	0	0	8613	838	29	3	2883	3	KTN1	14	56120290	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	3338237	56120290	51229250	122	31653											
DAAM1	23002	genome.wustl.edu	37	chr14	59834304	59834304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaagaacgtcgagctcGcatggaagctcaggtgagag	13	5	16	7	3	1	3	1	1	0	3	3	7	1	5	0	3	3	3	0	3	4	0	rs199742099		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr14:59834304G>A	ENST00000395125.1	+	24	3037	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.R995H|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1005H	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1005	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)		CGTCGAGCTCGCATGGAAGCT	0.418																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	87	82	84		3014	5.9	1	14		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	DAAM1	NM_014992.1	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1005/1079	59834304	2,13004	2203	4300	6503	SO:0001583	missense	0			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.3014G>A	14.37:g.59834304G>A	ENSP00000378557:p.Arg1005His		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.R1005H	ENST00000395125.1	37	c.3014	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675546	0.88445	2.27E-4	1.16E-4	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.81330	-1.48;-1.47;-1.47	5.87	5.87	0.94306	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (1);	0.103249	0.64402	D	0.000003	D	0.90841	0.7123	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66351	0.923;0.943	D	0.90728	0.4640	10	0.62326	D	0.03	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	995;1005	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	H	995;1005;1005	ENSP00000354162:R995H;ENSP00000247170:R1005H;ENSP00000378557:R1005H	ENSP00000247170:R1005H	R	+	2	0	DAAM1	58904057	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.289000	0.72696	2.941000	0.99782	0.655000	0.94253	CGC	DAAM1	-	smart_FH2_Formin	ENSG00000100592		0.418	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	-	0	24	0	G	NM_014992		59834304	1	tier1	rs199742099	no_errors	ENST00000351081	ensembl	human	known	74_37	missense	40.00	21	14	SNP	1.000	A	A	59834304	G	A	59834304	3	1	120	1	0	0	0	0	1	0	0	0	4224	1087	38	1	3108	1	DAAM1	14	59834304	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	3714014	59834304	47515236	123	31654											
SYNE2	23224	genome.wustl.edu	37	chr14	64588838	64588838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgataacgatacaactcagGaatcatctgcaaggtaaaac	18	8	7	8	1	3	1	2	1	1	0	3	3	3	2	0	2	5	2	0	2	7	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr14:64588838G>A	ENST00000344113.4	+	69	13479	c.13267G>A	c.(13267-13269)Gaa>Aaa	p.E4423K	SYNE2_ENST00000358025.3_Missense_Mutation_p.E4423K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1057K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E808K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E808K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4438K|SYNE2_ENST00000553455.1_Missense_Mutation_p.E142K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4423					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)		TACAACTCAGGAATCATCTGC	0.323																																																	0													86	88	87					14																	64588838		2203	4300	6503	SO:0001583	missense	0			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.13267G>A	14.37:g.64588838G>A	ENSP00000341781:p.Glu4423Lys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E4423K	ENST00000344113.4	37	c.13267	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352631	0.41700	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553455	T;T;T;T;T;T	0.56275	0.79;4.08;0.79;0.47;4.13;4.08	4.84	0.508	0.16972	.	0.823715	0.10640	N	0.651126	T	0.20941	0.0504	N	0.03324	-0.35	0.54753	D	0.999981	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.005;0.001;0.003	T	0.35500	-0.9786	10	0.05833	T	0.94	.	4.0956	0.09990	0.3268:0.1767:0.4965:0.0	.	808;4423;4423	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	K	4423;808;4423;4438;4438;1057;808;142	ENSP00000350719:E4423K;ENSP00000349969:E808K;ENSP00000341781:E4423K;ENSP00000452570:E4438K;ENSP00000450831:E1057K;ENSP00000378249:E808K	ENSP00000261678:E4438K	E	+	1	0	SYNE2	63658591	0.033000	0.19621	0.342000	0.25602	0.654000	0.38779	-0.014000	0.12656	0.109000	0.17891	0.650000	0.86243	GAA	SYNE2	-	NULL	ENSG00000054654		0.323	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	39	0	G	NM_182914		64588838	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.854	A	A	64588838	G	A	64588838	3	1	120	1	0	0	0	0	1	0	0	0	15493	1175	41	3	13537	3	SYNE2	14	64588838	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	4754534	64588838	42760702	124	31655											
PAPLN	89932	genome.wustl.edu	37	chr14	73739372	73739372	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcagcccatctggcagtaGggatgaaggctagttccagc	9	8	13	11	0	2	1	1	1	1	0	3	2	3	2	2	3	2	5	2	3	3	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr14:73739372G>T	ENST00000554301.1	+	26	4000	c.3837G>T	c.(3835-3837)taG>taT	p.*1279Y	PAPLN_ENST00000555445.1_Nonstop_Mutation_p.*1263Y|RP4-647C14.3_ENST00000556578.1_RNA|PAPLN_ENST00000340738.5_Nonstop_Mutation_p.*1252Y|PAPLN_ENST00000427855.1_Nonstop_Mutation_p.*1279Y|PAPLN_ENST00000381166.3_3'UTR			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	0						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)		TCTGGCAGTAGGGATGAAGGC	0.537																																																	0													85	80	82					14																	73739372		2203	4300	6503	SO:0001578	stop_lost	0			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.3837G>T	14.37:g.73739372G>T	ENSP00000451803:p.*1279Tyrext*2		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Nonstop_Mutation	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m	p.*1279Y	ENST00000554301.1	37	c.3837		14	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562621	0.45694	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000554301;ENST00000555445	.	.	.	5.21	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.9857	0.09514	0.2036:0.0:0.6127:0.1837	.	.	.	.	Y	1252;1279;1279;1263	.	.	X	+	3	2	PAPLN	72809125	0.719000	0.27986	1.000000	0.80357	0.883000	0.51084	-0.152000	0.10159	0.705000	0.31890	-0.345000	0.07892	TAG	PAPLN	-	NULL	ENSG00000100767		0.537	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1	-	0	57	0	G	NM_173462		73739372	1	tier1	-	no_errors	ENST00000427855	ensembl	human	known	74_37	nonstop	9.30	39	4	SNP	1.000	T	T	73739372	G	T	73739372	4	4	120	1	0	0	0	0	0	0	0	0	11467	995	35	3	3854	3	PAPLN	14	73739372	Nonstop_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	9150534	73739372	33610168	125	31656											
RPS6KA5	9252	genome.wustl.edu	37	chr14	91341668	91341668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacgtcaaacttcggtcatGagattggaagggaacctgtc	12	9	11	9	2	2	1	2	1	0	1	4	4	2	3	1	3	2	0	1	3	3	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr14:91341668G>C	ENST00000261991.3	-	15	2046	c.1873C>G	c.(1873-1875)Cat>Gat	p.H625D	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.H546D	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	625	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)		CTTCGGTCATGAGATTGGAAG	0.413																																																	0													67	67	67					14																	91341668		2203	4300	6503	SO:0001583	missense	0			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.1873C>G	14.37:g.91341668G>C	ENSP00000261991:p.His625Asp		O95316|Q96AF7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.H625D	ENST00000261991.3	37	c.1873	CCDS9893.1	14	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134022	0.56828	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.63913	-0.07;-0.07	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.176392	0.52532	D	0.000068	T	0.38878	0.1057	N	0.01874	-0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25606	-1.0127	10	0.24483	T	0.36	.	19.5907	0.95509	0.0:0.0:1.0:0.0	.	625	O75582	KS6A5_HUMAN	D	625;546	ENSP00000261991:H625D;ENSP00000442803:H546D	ENSP00000261991:H625D	H	-	1	0	RPS6KA5	90411421	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.612000	0.74187	2.696000	0.92011	0.561000	0.74099	CAT	RPS6KA5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000100784		0.413	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2	-	0	32	0	G	NM_004755		91341668	-1	tier1	-	no_errors	ENST00000261991	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	C	C	91341668	G	C	91341668	3	2	120	1	0	0	0	0	1	0	0	0	13699	1290	45	5	547	5	RPS6KA5	14	91341668	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	17602296	91341668	16007872	126	31657											
RTL1	388015	genome.wustl.edu	37	chr14	101347784	101347784	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggctggggccgagccacCcgcatggcgggtgccggccg	3	4	20	14	5	0	0	0	0	0	0	0	1	0	0	5	7	2	2	5	7	0	0			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr14:101347784C>A	ENST00000534062.1	-	1	3400	c.3342G>T	c.(3340-3342)cgG>cgT	p.R1114R	MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1114					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						GCCGAGCCACCCGCATGGCGG	0.667																																																	0													8	12	10					14																	101347784		680	1570	2250	SO:0001819	synonymous_variant	0				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.3342G>T	14.37:g.101347784C>A			E9PKS8	Silent	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.R1114	ENST00000534062.1	37	c.3342	CCDS53910.1	14																																																																																			RTL1	-	NULL	ENSG00000254656		0.667	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	-	0	55	0	C	NM_001134888		101347784	-1	tier1	-	no_errors	ENST00000534062	ensembl	human	known	74_37	silent	22.45	38	11	SNP	0.000	A	A	101347784	C	A	101347784	2	1	120	1	0	0	0	0	0	0	0	1	13769	610	22	3		3	RTL1	14	101347784	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	10006116	101347784	6001756	127	31658											
TRAF3	7187	genome.wustl.edu	37	chr14	103371584	103371584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgagccggcatgaccaGatgctgagtgtgcacgacat	10	7	13	11	2	0	4	0	3	0	1	0	5	0	4	2	1	4	4	2	1	0	0			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr14:103371584G>C	ENST00000560371.1	+	11	1387	c.1170G>C	c.(1168-1170)caG>caC	p.Q390H	TRAF3_ENST00000392745.2_Missense_Mutation_p.Q390H|TRAF3_ENST00000351691.5_Missense_Mutation_p.Q365H|TRAF3_ENST00000347662.4_Missense_Mutation_p.Q365H|TRAF3_ENST00000539721.1_Missense_Mutation_p.Q307H	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	390					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GGCATGACCAGATGCTGAGTG	0.582																																																	0													49	49	49					14																	103371584		2203	4300	6503	SO:0001583	missense	0			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1170G>C	14.37:g.103371584G>C	ENSP00000454207:p.Gln390His		B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.Q390H	ENST00000560371.1	37	c.1170	CCDS9975.1	14	.	.	.	.	.	.	.	.	.	.	G	2.829	-0.243039	0.05906	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T	0.78481	-1.18;-1.18;1.52	5.32	5.32	0.75619	.	0.419375	0.29002	N	0.013453	T	0.78457	0.4286	L	0.27053	0.805	0.39891	D	0.973771	D;B;B	0.54397	0.966;0.03;0.005	P;B;B	0.54499	0.754;0.015;0.015	T	0.80815	-0.1214	10	0.51188	T	0.08	-38.552	19.0212	0.92916	0.0:0.0:1.0:0.0	.	307;365;390	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	H	390;365;390;307	ENSP00000376500:Q390H;ENSP00000328003:Q365H;ENSP00000445998:Q307H	ENSP00000328003:Q365H	Q	+	3	2	TRAF3	102441337	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	3.376000	0.52417	2.489000	0.83994	0.563000	0.77884	CAG	TRAF3	-	pirsf_TNF_rcpt--assoc_TRAF	ENSG00000131323		0.582	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF3	HGNC	protein_coding	OTTHUMT00000415735.1	-	0	65	0	G	NM_145725		103371584	1	tier1	-	no_errors	ENST00000392745	ensembl	human	known	74_37	missense	42.19	37	27	SNP	1.000	C	C	103371584	G	C	103371584	3	2	120	1	0	0	0	0	1	0	0	0	16487	933	33	5	1208	5	TRAF3	14	103371584	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	2023800	103371584	3977956	128	31659											
NDN	4692	genome.wustl.edu	37	chr15	23931422	23931422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctcagagacactgctgcGagggtagtgggcagtgggat	8	8	17	8	1	1	1	1	0	0	1	2	4	2	2	1	3	2	3	1	3	1	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr15:23931422G>A	ENST00000331837.4	-	1	1028	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	315					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		ACACTGCTGCGAGGGTAGTGG	0.572									Prader-Willi syndrome																																								0													52	55	54					15																	23931422		2193	4284	6477	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.943C>T	15.37:g.23931422G>A	ENSP00000332643:p.Arg315Cys		B2R6Z5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R315C	ENST00000331837.4	37	c.943	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	G	6.352	0.433078	0.12045	.	.	ENSG00000182636	ENST00000331837	T	0.02812	4.15	3.5	3.5	0.40072	.	0.242758	0.21715	N	0.070220	T	0.03959	0.0111	N	0.08118	0	0.26606	N	0.972929	D	0.89917	1.0	P	0.58928	0.848	T	0.43540	-0.9385	10	0.54805	T	0.06	.	10.8057	0.46516	0.0:0.0:1.0:0.0	.	315	Q99608	NECD_HUMAN	C	315	ENSP00000332643:R315C	ENSP00000332643:R315C	R	-	1	0	NDN	21482515	1.000000	0.71417	0.425000	0.26659	0.082000	0.17680	2.282000	0.43461	2.239000	0.73571	0.655000	0.94253	CGC	NDN	-	NULL	ENSG00000182636		0.572	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	HGNC	protein_coding	OTTHUMT00000251226.2	-	0	40	0	G	NM_002487		23931422	-1	tier1	-	no_errors	ENST00000331837	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.347	A	A	23931422	G	A	23931422	3	1	120	1	0	0	0	0	1	0	0	0	10286	1058	37	1	26	1	NDN	15	23931422	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		23931422	78599970	129	31660											
FMN1	342184	genome.wustl.edu	37	chr15	33096524	33096525	+	Missense_Mutation	DNP	TC	TC	AA																															gactttcttccatcttatgcTcttttttggctgtaaaagat																										TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr15:33096524_33096525TC>AA	ENST00000559047.1	-	15	3936_3937	c.3937_3938GA>TT	c.(3937-3939)GAg>TTg	p.E1313L	FMN1_ENST00000334528.9_Missense_Mutation_p.E1090L|FMN1_ENST00000561249.1_Missense_Mutation_p.E1215L			Q68DA7	FMN1_HUMAN	formin 1	1313	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CATCTTATGCTCTTTTTTGGCT	0.356																																																	0																																										SO:0001583	missense	0			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.3937_3938delinsAA	15.37:g.33096524_33096525delinsAA	ENSP00000454047:p.Glu1313Leu		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation|Nonsense_Mutation	SNP	pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam	p.E1090V|p.E1090*	ENST00000559047.1	37	c.3269|c.3268		15																																																																																			FMN1	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000248905		0.356	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	-	0	67	0	T|C	NM_001103184		33096524|33096525	-1	tier1	-	no_errors	ENST00000334528	ensembl	human	known	74_37	missense|nonsense	16.22	31	6	SNP	1.000	A	AA	33096525	TC	AA	33096524	3	1	120	1	0	0	0	0	1	0	0	0	5971	1551	54	5	337	5	FMN1	15	33096524	Missense_Mutation	DNP	TC	TCGA-LN-A4MR-01A-11D-A28B-09	9165102	33096524	69434868	130	31661											
FBN1	2200	genome.wustl.edu	37	chr15	48936865	48936865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgactggctctggtttccttCacgttcccagcctccaaatt	6	13	7	15	2	2	0	1	0	1	0	5	1	5	0	4	2	1	3	4	2	1	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr15:48936865C>T	ENST00000316623.5	-	2	557	c.102G>A	c.(100-102)gtG>gtA	p.V34V	FBN1_ENST00000560355.1_Silent_p.V34V|RP11-227D13.1_ENST00000558061.1_lincRNA	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	34					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)		TGGTTTCCTTCACGTTCCCAG	0.602																																																	0													172	164	167					15																	48936865		2197	4296	6493	SO:0001819	synonymous_variant	0			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.102G>A	15.37:g.48936865C>T			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.V34	ENST00000316623.5	37	c.102	CCDS32232.1	15																																																																																			FBN1	-	pirsf_FBN	ENSG00000166147		0.602	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	70	0	C			48936865	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	silent	46.27	36	31	SNP	0.993	T	T	48936865	C	T	48936865	2	4	120	1	0	0	0	0	0	0	0	1	5724	813	29	3		3	FBN1	15	48936865	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	15840341	48936865	53594527	131	31662											
CORO2B	10391	genome.wustl.edu	37	chr15	68987554	68987554	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatatcaaatggaaccccTtcatcgacaacatcattgcc	13	10	6	12	1	3	0	3	0	0	0	4	3	3	2	3	2	3	0	3	2	4	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr15:68987554T>A	ENST00000566799.1	+	3	321	c.292T>A	c.(292-294)Ttc>Atc	p.F98I	CORO2B_ENST00000261861.5_Missense_Mutation_p.F93I|CORO2B_ENST00000543950.1_Missense_Mutation_p.F93I|CORO2B_ENST00000540068.1_Missense_Mutation_p.F93I			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	98					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						ATGGAACCCCTTCATCGACAA	0.592																																																	0													139	118	125					15																	68987554		2200	4298	6498	SO:0001583	missense	0			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.292T>A	15.37:g.68987554T>A	ENSP00000454783:p.Phe98Ile		A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F98I	ENST00000566799.1	37	c.292	CCDS10229.2	15	.	.	.	.	.	.	.	.	.	.	T	23.5	4.422921	0.83559	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.60424	0.19;0.19	5.14	4.01	0.46588	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045821	0.85682	N	0.000000	T	0.71863	0.3390	M	0.71206	2.165	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.72010	-0.4419	10	0.54805	T	0.06	-34.6823	10.0744	0.42351	0.0:0.0809:0.0:0.9191	.	98	Q9UQ03	COR2B_HUMAN	I	98;93;93	ENSP00000446250:F93I;ENSP00000443819:F93I	ENSP00000261861:F98I	F	+	1	0	CORO2B	66774608	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.808000	0.86044	0.923000	0.37045	-0.388000	0.06559	TTC	CORO2B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000103647		0.592	CORO2B-203	KNOWN	basic|CCDS	protein_coding	CORO2B	HGNC	protein_coding		-	0	22	0	T	NM_006091		68987554	1	tier1	-	no_errors	ENST00000566799	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	A	A	68987554	T	A	68987554	3	1	120	1	0	0	0	0	1	0	0	0	3764	1609	56	5	302	5	CORO2B	15	68987554	Missense_Mutation	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	20050689	68987554	33543838	132	31663											
SEMA4B	10509	genome.wustl.edu	37	chr15	90768989	90768989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggactgcctcctcgcccggGacccctactgtgcttggagc	4	8	13	16	2	0	0	0	0	0	0	2	3	1	3	5	3	4	1	5	3	1	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr15:90768989G>T	ENST00000411539.2	+	12	1878	c.1618G>T	c.(1618-1620)Gac>Tac	p.D540Y	SEMA4B_ENST00000379122.3_Missense_Mutation_p.D535Y|SEMA4B_ENST00000332496.6_Missense_Mutation_p.D540Y	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	535	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCTCGCCCGGGACCCCTACTG	0.657																																																	0													13	16	15					15																	90768989		2051	4182	6233	SO:0001583	missense	0			AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1618G>T	15.37:g.90768989G>T	ENSP00000394720:p.Asp540Tyr		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.D540Y	ENST00000411539.2	37	c.1618	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935069	0.92458	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.52983	0.64;0.64;0.64	5.7	5.7	0.88788	.	0.141085	0.64402	D	0.000007	T	0.79845	0.4516	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	D	0.85921	0.1446	10	0.87932	D	0	.	18.3974	0.90502	0.0:0.0:1.0:0.0	.	535;540;535	Q9NPR2-2;Q2NL81;Q9NPR2	.;.;SEM4B_HUMAN	Y	540;535;540	ENSP00000332204:D540Y;ENSP00000368417:D535Y;ENSP00000394720:D540Y	ENSP00000332204:D540Y	D	+	1	0	SEMA4B	88569993	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.674000	0.98633	2.701000	0.92244	0.561000	0.74099	GAC	SEMA4B	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000185033		0.657	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	-	0	85	0	G	NM_198925		90768989	1	tier1	-	no_errors	ENST00000332496	ensembl	human	known	74_37	missense	33.33	62	31	SNP	1.000	T	T	90768989	G	T	90768989	3	4	120	1	0	0	0	0	1	0	0	0	14077	1174	41	3	1664	3	SEMA4B	15	90768989	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	21781435	90768989	11762403	133	31664											
WDR90	197335	genome.wustl.edu	37	chr16	701947	701947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgagccctgggcccagctgGaggcctctgacatccacacg	7	7	12	15	1	1	2	0	2	1	0	2	3	2	3	4	3	2	1	4	3	0	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr16:701947G>C	ENST00000293879.4	+	9	961	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.E321Q			Q96KV7	WDR90_HUMAN	WD repeat domain 90	321										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCAGCTGGAGGCCTCTGA	0.682																																																	0													12	16	15					16																	701947		2052	4175	6227	SO:0001583	missense	0			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.961G>C	16.37:g.701947G>C	ENSP00000293879:p.Glu321Gln		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E321Q	ENST00000293879.4	37	c.961	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	G	5.730	0.319143	0.10845	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.29397	1.61;1.57	4.08	-0.559	0.11792	.	7.488640	0.00799	U	0.001407	T	0.30634	0.0771	L	0.60455	1.87	0.09310	N	1	B;B;B	0.30973	0.047;0.18;0.302	B;B;B	0.28139	0.024;0.081;0.086	T	0.12578	-1.0542	10	0.37606	T	0.19	.	6.6791	0.23110	0.1797:0.2698:0.5505:0.0	.	321;322;321	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	Q	321	ENSP00000448122:E321Q;ENSP00000293879:E321Q	ENSP00000293879:E321Q	E	+	1	0	WDR90	641948	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.333000	0.19768	-0.628000	0.05582	-1.134000	0.01955	GAG	WDR90	-	NULL	ENSG00000161996		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1		0	24	0	G	NM_145294		701947	1			no_errors	ENST00000549091	ensembl	human	novel	74_37	missense	14.29	12	2	SNP	0.000	C	C	701947	G	C	701947	3	2	120	1	0	0	0	0	1	0	0	0	17386	1175	41	5	995	5	WDR90	16	701947	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		701947	89652806	134	31665											
CACNA1H	8912	genome.wustl.edu	37	chr16	1261716	1261716	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accctggctctggccctcagGccctgatgtcgctgttcgtg	3	11	12	15	2	2	1	1	1	1	0	4	1	2	1	3	3	0	3	3	3	0	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr16:1261716G>A	ENST00000348261.5	+	24	4725	c.4477G>A	c.(4477-4479)Gcc>Acc	p.A1493T	CACNA1H_ENST00000358590.4_Splice_Site_p.A1493T|CACNA1H_ENST00000565831.1_Splice_Site_p.A1493T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1493					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)	TGGCCCTCAGGCCCTGATGTC	0.672																																																	0													52	55	54					16																	1261716		2056	4197	6253	SO:0001630	splice_region_variant	0			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.4477-1G>A	16.37:g.1261716G>A			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.A1493T	ENST00000348261.5	37	c.4477	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567494	0.65651	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98876	-5.2;-5.2	4.49	3.54	0.40534	Ion transport (1);	0.056574	0.64402	N	0.000001	D	0.99127	0.9699	M	0.90814	3.15	0.51012	D	0.999908	D;D;D;D;D	0.89917	0.957;1.0;1.0;0.997;0.992	P;D;D;D;D	0.85130	0.71;0.997;0.997;0.984;0.968	D	0.99433	1.0936	9	.	.	.	.	11.8646	0.52486	0.0859:0.0:0.914:0.0	.	234;234;234;1493;1493	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	T	1493	ENSP00000334198:A1493T;ENSP00000351401:A1493T	.	A	+	1	0	CACNA1H	1201717	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	9.341000	0.97041	1.245000	0.43885	-0.339000	0.08088	GCC	CACNA1H	-	pfam_Ion_trans_dom	ENSG00000196557		0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	-	0	35	0	G	NM_001005407	Missense_Mutation	1261716	1	tier1	-	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	12.00	44	6	SNP	1.000	A	A	1261716	G	A	1261716	5	1	120	1	0	0	0	0	0	0	1	0	2552	1217	42	3	4567	3	CACNA1H	16	1261716	Splice_Site	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	559769	1261716	89093037	135	31666											
ABCA3	21	genome.wustl.edu	37	chr16	2328323	2328323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgatggccttgccagactCtcgggctcgtgccacggtgt	5	10	14	12	3	1	2	0	1	1	1	3	3	1	2	3	3	2	1	3	3	0	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr16:2328323C>G	ENST00000301732.5	-	30	5384	c.4684G>C	c.(4684-4686)Gag>Cag	p.E1562Q	ABCA3_ENST00000382381.3_Missense_Mutation_p.E1504Q	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1562	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TTGCCAGACTCTCGGGCTCGT	0.642																																																	0													53	58	56					16																	2328323		2198	4300	6498	SO:0001583	missense	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4684G>C	16.37:g.2328323C>G	ENSP00000301732:p.Glu1562Gln		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1562Q	ENST00000301732.5	37	c.4684	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869519	0.51588	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.84660	-1.88	5.41	4.45	0.53987	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.052363	0.85682	N	0.000000	D	0.86255	0.5889	L	0.28740	0.885	0.80722	D	1	P;D	0.58268	0.813;0.982	B;D	0.64321	0.387;0.924	D	0.84462	0.0594	10	0.27785	T	0.31	.	15.2036	0.73159	0.0:0.8584:0.1416:0.0	.	1566;1562	Q4LE27;Q99758	.;ABCA3_HUMAN	Q	1562;1566	ENSP00000301732:E1562Q	ENSP00000301732:E1562Q	E	-	1	0	ABCA3	2268324	0.998000	0.40836	0.235000	0.24058	0.000000	0.00434	3.763000	0.55257	1.394000	0.46624	-0.305000	0.09177	GAG	ABCA3	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000167972		0.642	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	-	0	58	0	C	NM_001089		2328323	-1	tier1	-	no_errors	ENST00000301732	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.999	G	G	2328323	C	G	2328323	3	3	120	1	0	0	0	0	1	0	0	0	33	922	32	5	446	5	ABCA3	16	2328323	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	1066607	2328323	88026430	136	31667											
NLRC3	197358	genome.wustl.edu	37	chr16	3593431	3593431	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggaatacttactcgagaAtctccaaggttctgttcaca	12	12	7	10	1	3	1	1	0	2	1	5	3	3	2	1	2	2	2	1	2	5	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr16:3593431A>G	ENST00000301749.7	-	0	3338				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|LA16c-390H2.4_ENST00000573820.1_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						TTACTCGAGAATCTCCAAGGT	0.493																																																	0													42	45	44					16																	3593431		1917	4133	6050			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3593431A>G			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.I1024T	ENST00000301749.7	37	c.3071		16	.	.	.	.	.	.	.	.	.	.	A	4.640	0.118956	0.08881	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.50813	0.73;0.73;0.73	4.86	4.86	0.63082	.	0.401659	0.25332	N	0.031439	T	0.16896	0.0406	N	0.00750	-1.22	0.23435	N	0.997681	B	0.11235	0.004	B	0.17098	0.017	T	0.15435	-1.0437	10	0.10111	T	0.7	.	11.005	0.47629	1.0:0.0:0.0:0.0	.	1024	C9JLH9	.	T	978;949;1024	ENSP00000301749:I978T;ENSP00000352039:I949T;ENSP00000414415:I1024T	ENSP00000301749:I978T	I	-	2	0	NLRC3	3533432	0.996000	0.38824	0.998000	0.56505	0.720000	0.41350	1.870000	0.39529	2.160000	0.67779	0.459000	0.35465	ATT	NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000167984		0.493	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		-	0	53	0	A	NM_178844		3593431	-1	tier1	-	no_errors	ENST00000448023	ensembl	human	known	74_37	missense	24.49	37	12	SNP	1.000	G	G	3593431	A	G	3593431	1	3	120	0	1	0	0	0	0	0	0	0	10507	101	4	4		4	NLRC3	16	3593431	RNA	SNP	A	TCGA-LN-A4MR-01A-11D-A28B-09	1265108	3593431	86761322	137	31668											
ERCC4	2072	genome.wustl.edu	37	chr16	14029602	14029602	+	Splice_Site	SNP	C	C	A	0	0	0	1	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	ggcctgggaaacctctgaggCaagttataaagaatcacagc	14	7	11	9	0	2	2	1	1	1	1	2	3	2	3	2	3	2	2	2	3	6	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr16:14029602C>A	ENST00000311895.7	+	8	1820		c.e8+2		CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4						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						ACCTCTGAGGCAAGTTATAAA	0.418			"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													61	61	61					16																	14029602		2196	4300	6496	SO:0001630	splice_region_variant	0	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.1811+2C>A	16.37:g.14029602C>A			A5PKV6|A8K111|O00140|Q8TD83	Splice_Site	SNP	-	e8+2	ENST00000311895.7	37	c.1811+2	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144766	0.37825	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	.	.	.	5.33	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0207	0.19628	0.0:0.6365:0.1407:0.2229	.	.	.	.	.	-1	.	.	.	+	.	.	ERCC4	13937103	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.468000	0.35332	0.729000	0.32403	0.591000	0.81541	.	ERCC4	-	-	ENSG00000175595		0.418	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	-	0	42	0	C	NM_005236	Intron	14029602	1	tier1	-	no_errors	ENST00000311895	ensembl	human	known	74_37	splice_site	16.13	26	5	SNP	1.000	A	A	14029602	C	A	14029602	5	1	120	1	0	0	0	0	0	0	1	0	5231	724	25	3	1843	3	ERCC4	16	14029602	Splice_Site	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	10436171	14029602	76325151	138	31669											
CDR2	1039	genome.wustl.edu	37	chr16	22358728	22358728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatcgtctcactgctgctgCgcttgagaggctttctatgt	5	14	12	10	2	2	1	1	1	2	1	4	3	2	2	0	2	3	4	0	2	1	3	rs541082194		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr16:22358728C>T	ENST00000268383.2	-	5	1230	c.923G>A	c.(922-924)cGc>cAc	p.R308H		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	308						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		ACTGCTGCTGCGCTTGAGAGG	0.562																																																	0													56	46	49					16																	22358728		2197	4300	6497	SO:0001583	missense	0			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"Yo paraneoplastic antigen"	117340	"cerebellar degeneration-related protein (62kD)"			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.923G>A	16.37:g.22358728C>T	ENSP00000268383:p.Arg308His		A8K8A8|Q13977	Missense_Mutation	SNP	NULL	p.R308H	ENST00000268383.2	37	c.923	CCDS32404.1	16	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976339	0.92982	.	.	ENSG00000140743	ENST00000268383	T	0.54279	0.58	5.79	5.79	0.91817	.	0.049885	0.85682	D	0.000000	T	0.73194	0.3556	M	0.70275	2.135	0.58432	D	0.999997	D	0.89917	1.0	D	0.72982	0.979	T	0.72683	-0.4219	10	0.52906	T	0.07	-18.8966	20.0321	0.97543	0.0:1.0:0.0:0.0	.	308	Q01850	CDR2_HUMAN	H	308	ENSP00000268383:R308H	ENSP00000268383:R308H	R	-	2	0	CDR2	22266229	1.000000	0.71417	0.999000	0.59377	0.658000	0.38924	5.444000	0.66587	2.728000	0.93425	0.655000	0.94253	CGC	CDR2	-	NULL	ENSG00000140743		0.562	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2	HGNC	protein_coding	OTTHUMT00000430081.1	-	0	46	0	C			22358728	-1	tier1	-	no_errors	ENST00000268383	ensembl	human	known	74_37	missense	10.17	53	6	SNP	1.000	T	T	22358728	C	T	22358728	3	4	120	1	0	0	0	0	1	0	0	0	3179	768	27	1	445	1	CDR2	16	22358728	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	8329126	22358728	67996025	139	31670											
GTF3C1	2975	genome.wustl.edu	37	chr16	27481557	27481557	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaatttcctccagggccGtccagtgaaaaggccaccat	12	7	8	14	1	0	1	0	1	0	0	3	1	3	1	6	2	0	0	6	2	3	1	rs576044105		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr16:27481557G>A	ENST00000356183.4	-	31	4701	c.4686C>T	c.(4684-4686)gaC>gaT	p.D1562D	GTF3C1_ENST00000561623.1_Silent_p.D1562D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1562					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						CTCCAGGGCCGTCCAGTGAAA	0.547																																																	0													121	118	119					16																	27481557		2197	4300	6497	SO:0001819	synonymous_variant	0			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.4686C>T	16.37:g.27481557G>A			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	pfam_TFIIIC_Bblock-bd	p.D1562	ENST00000356183.4	37	c.4686	CCDS32414.1	16																																																																																			GTF3C1	-	NULL	ENSG00000077235		0.547	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	-	0	63	0	G	NM_001520		27481557	-1	tier1	-	no_errors	ENST00000356183	ensembl	human	known	74_37	silent	30.67	52	23	SNP	0.955	A	A	27481557	G	A	27481557	2	1	120	1	0	0	0	0	0	0	0	1	6899	1136	40	1		1	GTF3C1	16	27481557	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	5122829	27481557	62873196	140	31671											
C16orf78	123970	genome.wustl.edu	37	chr16	49430446	49430446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggtacctttaacagccaGagggcaaccttcataagaga	14	7	11	9	0	1	2	1	0	0	2	1	4	1	2	3	2	4	2	3	2	4	5	rs374900464	byFrequency	TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr16:49430446G>C	ENST00000299191.3	+	4	624	c.507G>C	c.(505-507)caG>caC	p.Q169H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	169						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TTAACAGCCAGAGGGCAACCT	0.507																																																	0													97	87	90					16																	49430446		2199	4300	6499	SO:0001583	missense	0			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.507G>C	16.37:g.49430446G>C	ENSP00000299191:p.Gln169His			Missense_Mutation	SNP	NULL	p.Q169H	ENST00000299191.3	37	c.507	CCDS10738.1	16	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723473	0.30593	.	.	ENSG00000166152	ENST00000299191	T	0.42900	0.96	5.29	-0.539	0.11865	.	0.307141	0.23353	N	0.049115	T	0.22820	0.0551	N	0.22421	0.69	0.09310	N	1	B	0.22683	0.073	B	0.24155	0.051	T	0.16867	-1.0388	9	.	.	.	-33.0572	6.9834	0.24715	0.1659:0.3976:0.4365:0.0	.	169	Q8WTQ4	CP078_HUMAN	H	169	ENSP00000299191:Q169H	.	Q	+	3	2	C16orf78	47987947	0.096000	0.21769	0.003000	0.11579	0.007000	0.05969	0.479000	0.22228	0.005000	0.14708	0.655000	0.94253	CAG	C16orf78	-	NULL	ENSG00000166152		0.507	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf78	HGNC	protein_coding	OTTHUMT00000256846.1	-	0	28	0	G	NM_144602		49430446	1	tier1	-	no_errors	ENST00000299191	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.002	C	C	49430446	G	C	49430446	3	2	120	1	0	0	0	0	1	0	0	0	1840	933	33	5	521	5	C16orf78	16	49430446	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	21948889	49430446	40924307	141	31672											
HYDIN	54768	genome.wustl.edu	37	chr16	70841857	70841857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcaggatgcccttggtctCacccaggtggctgggctcga	6	9	14	12	1	2	0	2	0	1	0	4	3	2	1	2	5	1	2	2	5	0	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr16:70841857C>T	ENST00000393567.2	-	86	15142	c.14992G>A	c.(14992-14994)Gag>Aag	p.E4998K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4998					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)				CCCTTGGTCTCACCCAGGTGG	0.557																																																	0													78	81	80					16																	70841857		1996	4163	6159	SO:0001583	missense	0			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.14992G>A	16.37:g.70841857C>T	ENSP00000377197:p.Glu4998Lys		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.E4998K	ENST00000393567.2	37	c.14992	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.685371	0.96784	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01099	5.34	6.17	6.17	0.99709	.	0.000000	0.31797	U	0.007056	T	0.06735	0.0172	M	0.84846	2.72	0.80722	D	1	D	0.55172	0.97	P	0.56434	0.798	T	0.44544	-0.9321	10	0.23302	T	0.38	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	4997	F8WD23	.	K	4998;4997	ENSP00000377197:E4998K	ENSP00000313052:E4997K	E	-	1	0	HYDIN	69399358	1.000000	0.71417	0.993000	0.49108	0.802000	0.45316	5.776000	0.68924	2.941000	0.99782	0.655000	0.94253	GAG	HYDIN	-	NULL	ENSG00000157423		0.557	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	58	0	C			70841857	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	50.00	18	18	SNP	0.999	T	T	70841857	C	T	70841857	3	4	120	1	0	0	0	0	1	0	0	0	7494	835	29	3	377	3	HYDIN	16	70841857	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	21411411	70841857	19512896	142	31673											
ZZEF1	23140	genome.wustl.edu	37	chr17	3981250	3981250	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgcaggtagcaccaggaTagcaggctgccttggacgga	10	6	15	10	1	0	0	0	0	0	0	0	3	0	3	2	5	5	6	2	5	2	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:3981250T>C	ENST00000381638.2	-	19	3040	c.2916A>G	c.(2914-2916)ctA>ctG	p.L972L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	972							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						AGCACCAGGATAGCAGGCTGC	0.527																																																	0													78	73	75					17																	3981250		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2916A>G	17.37:g.3981250T>C			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.L972	ENST00000381638.2	37	c.2916	CCDS11043.1	17																																																																																			ZZEF1	-	NULL	ENSG00000074755		0.527	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	-	0	19	0	T	NM_015113		3981250	-1	tier1	-	no_errors	ENST00000381638	ensembl	human	known	74_37	silent	29.17	17	7	SNP	0.871	C	C	3981250	T	C	3981250	2	2	120	1	0	0	0	0	0	0	0	1	18303	1393	49	4		4	ZZEF1	17	3981250	Silent	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09		3981250	77213960	143	31674											
NEURL4	84461	genome.wustl.edu	37	chr17	7221920	7221920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgaagatgcagccccccaGagctgtccagccgcagtccc	9	5	10	17	1	0	3	0	1	0	2	2	3	2	3	6	0	4	3	6	0	1	0			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:7221920G>A	ENST00000399464.2	-	23	3773	c.3758C>T	c.(3757-3759)tCt>tTt	p.S1253F	NEURL4_ENST00000570460.1_Missense_Mutation_p.S1229F|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1251F|NEURL4_ENST00000574120.1_5'UTR|RP11-542C16.2_ENST00000575474.1_Silent_p.L67L	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1253	NHR 6. {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						CAGCCCCCCAGAGCTGTCCAG	0.612																																																	0													48	55	52					17																	7221920		2036	4182	6218	SO:0001583	missense	0				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.3758C>T	17.37:g.7221920G>A	ENSP00000382390:p.Ser1253Phe		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z	p.S1253F	ENST00000399464.2	37	c.3758	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	g	10.88	1.476381	0.26511	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.33216	1.42;1.42	5.36	3.37	0.38596	NEUZ (1);	0.211175	0.41605	D	0.000845	T	0.35278	0.0926	M	0.62723	1.935	0.21897	N	0.999488	P;B	0.34826	0.471;0.34	B;B	0.40285	0.325;0.174	T	0.27088	-1.0084	10	0.72032	D	0.01	-0.487	10.7316	0.46100	0.0:0.2664:0.5958:0.1378	.	1251;1253	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	F	1251;1253	ENSP00000319826:S1251F;ENSP00000382390:S1253F	ENSP00000319826:S1251F	S	-	2	0	NEURL4	7162644	0.603000	0.26924	0.976000	0.42696	0.004000	0.04260	1.079000	0.30766	0.632000	0.30432	-0.216000	0.12614	TCT	NEURL4	-	pfscan_Neu_Z	ENSG00000215041		0.612	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	HGNC	protein_coding	OTTHUMT00000255434.2	-	0	101	0	G	NM_032442		7221920	-1	tier1	-	no_errors	ENST00000399464	ensembl	human	known	74_37	missense	45.24	46	38	SNP	0.773	A	A	7221920	G	A	7221920	3	1	120	1	0	0	0	0	1	0	0	0	10386	942	33	3	958	3	NEURL4	17	7221920	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	3240670	7221920	73973290	144	31675											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	0	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	30	0	C	NM_000546		7578406	-1	tier1	rs28934578	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	57.69	11	15	SNP	1.000	T	T	7578406	C	T	7578406	3	4	120	1	0	0	0	0	1	0	0	0	16429	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	356486	7578406	73616804	145	31676											
ADORA2B	136	genome.wustl.edu	37	chr17	15878282	15878282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acattaagatcttcctggtgGcctgcaggcagcttcagcgc	8	10	11	12	1	2	1	1	0	1	1	3	1	3	1	2	3	3	3	2	3	1	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:15878282G>T	ENST00000304222.2	+	2	957	c.625G>T	c.(625-627)Gcc>Tcc	p.A209S	ZSWIM7_ENST00000399280.2_5'Flank	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	209					activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	CTTCCTGGTGGCCTGCAGGCA	0.527																																																	0													114	96	102					17																	15878282		2203	4300	6503	SO:0001583	missense	0			M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"GPCR / Class A : Adenosine receptors"	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.625G>T	17.37:g.15878282G>T	ENSP00000304501:p.Ala209Ser			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2B_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.A209S	ENST00000304222.2	37	c.625	CCDS11173.1	17	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832758	0.91036	.	.	ENSG00000170425	ENST00000304222	T	0.38240	1.15	5.59	5.59	0.84812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	M	0.87827	2.91	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.71034	-0.4709	10	0.56958	D	0.05	-10.5007	18.5682	0.91124	0.0:0.0:1.0:0.0	.	209	P29275	AA2BR_HUMAN	S	209	ENSP00000304501:A209S	ENSP00000304501:A209S	A	+	1	0	ADORA2B	15819007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.634000	0.89283	0.563000	0.77884	GCC	ADORA2B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000170425		0.527	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2B	HGNC	protein_coding	OTTHUMT00000131032.1	-	0	72	0	G			15878282	1	tier1	-	no_errors	ENST00000304222	ensembl	human	known	74_37	missense	5.26	71	4	SNP	1.000	T	T	15878282	G	T	15878282	3	4	120	1	0	0	0	0	1	0	0	0	328	1203	42	3	631	3	ADORA2B	17	15878282	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	8299876	15878282	65316928	146	31677											
LLGL1	3996	genome.wustl.edu	37	chr17	18133339	18133339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccatcggcaccaggtctGgggctgtcaagatgtatcct	7	10	13	11	1	2	1	1	0	1	1	4	1	3	1	3	5	0	3	3	5	2	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:18133339G>A	ENST00000316843.4	+	2	262	c.166G>A	c.(166-168)Ggg>Agg	p.G56R		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	56					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)					CACCAGGTCTGGGGCTGTCAA	0.607																																																	0													89	76	80					17																	18133339		2203	4300	6503	SO:0001583	missense	0				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.166G>A	17.37:g.18133339G>A	ENSP00000321537:p.Gly56Arg		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.G56R	ENST00000316843.4	37	c.166	CCDS32586.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.189487	0.94923	.	.	ENSG00000131899	ENST00000316843	T	0.74421	-0.84	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89549	0.3798	10	0.87932	D	0	-35.4314	18.061	0.89377	0.0:0.0:1.0:0.0	.	56	Q15334	L2GL1_HUMAN	R	56	ENSP00000321537:G56R	ENSP00000321537:G56R	G	+	1	0	LLGL1	18074064	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.549000	0.98106	2.641000	0.89580	0.558000	0.71614	GGG	LLGL1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000131899		0.607	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	-	0	68	0	G			18133339	1	tier1	-	no_errors	ENST00000316843	ensembl	human	known	74_37	missense	64.58	17	31	SNP	1.000	A	A	18133339	G	A	18133339	3	1	120	1	0	0	0	0	1	0	0	0	8863	1348	47	3	172	3	LLGL1	17	18133339	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	2255057	18133339	63061871	147	31678											
PSMD11	5717	genome.wustl.edu	37	chr17	30807535	30807535	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccagggggagggtgtcctGattattttcgatgaaccccc	8	10	13	10	1	0	2	0	2	0	0	2	5	1	3	4	3	1	0	4	3	2	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:30807535G>C	ENST00000261712.3	+	13	1418	c.1155G>C	c.(1153-1155)ctG>ctC	p.L385L	PSMD11_ENST00000457654.2_Silent_p.L385L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	385	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AGGGTGTCCTGATTATTTTCG	0.453																																					Ovarian(130;1038 1716 9294 11987 19279)												0													99	97	98					17																	30807535		2203	4300	6503	SO:0001819	synonymous_variant	0			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.1155G>C	17.37:g.30807535G>C			A8K3I7|E1P663|O00495|Q53FT5	Silent	SNP	pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.L385	ENST00000261712.3	37	c.1155	CCDS11272.1	17	.	.	.	.	.	.	.	.	.	.	G	3.243	-0.154836	0.06544	.	.	ENSG00000108671	ENST00000457654	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.61652	0.2364	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58272	-0.7665	4	.	.	.	-4.2165	10.2602	0.43423	0.0868:0.0:0.9132:0.0	.	.	.	.	H	123	.	.	D	+	1	0	PSMD11	27831648	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.948000	0.56660	2.894000	0.99253	0.655000	0.94253	GAT	PSMD11	-	pfam_PCI_dom,smart_PCI_dom	ENSG00000108671		0.453	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD11	HGNC	protein_coding	OTTHUMT00000256252.2	-	0	49	0	G	NM_002815		30807535	1	tier1	-	no_errors	ENST00000261712	ensembl	human	known	74_37	silent	21.21	26	7	SNP	1.000	C	C	30807535	G	C	30807535	2	2	120	1	0	0	0	0	0	0	0	1	12736	1277	45	5		5	PSMD11	17	30807535	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	12674196	30807535	50387675	148	31679											
RFFL	117584	genome.wustl.edu	37	chr17	33348699	33348699	+	Silent	SNP	T	T	C	0	1	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	agctcctctcgctgaaaggcTgtagctcgaaaccgttggca	9	9	11	12	3	1	1	0	1	1	0	4	2	2	1	2	2	3	7	2	2	3	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:33348699T>C	ENST00000315249.7	-	3	504	c.282A>G	c.(280-282)acA>acG	p.T94T	RFFL_ENST00000447669.2_Silent_p.T94T|RFFL_ENST00000378516.2_Silent_p.T94T|RFFL_ENST00000413582.2_Silent_p.T94T|RFFL_ENST00000584655.1_Silent_p.T94T|RFFL_ENST00000394597.2_Silent_p.T94T|RFFL_ENST00000268850.7_Silent_p.T94T|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000415395.2_Silent_p.T94T					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GCTGAAAGGCTGTAGCTCGAA	0.512																																																	0													87	84	85					17																	33348699		2203	4300	6503	SO:0001819	synonymous_variant	0			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.282A>G	17.37:g.33348699T>C				Silent	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.T94	ENST00000315249.7	37	c.282	CCDS11286.1	17																																																																																			RFFL	-	superfamily_Znf_FYVE_PHD	ENSG00000092871		0.512	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFFL	HGNC	protein_coding	OTTHUMT00000256460.2	-	0	44	0	T	NM_057178		33348699	-1	tier1	-	no_errors	ENST00000315249	ensembl	human	known	74_37	silent	38.46	8	5	SNP	1.000	C	C	33348699	T	C	33348699	2	2	120	1	0	0	0	0	0	0	0	1	13295	1567	55	4		4	RFFL	17	33348699	Silent	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	2541164	33348699	47846511	149	31680											
PIGW	284098	genome.wustl.edu	37	chr17	34893992	34893992	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttcttttactggcagctAttagcctcttcatatctctt	6	20	5	10	0	4	0	1	0	3	0	5	0	4	0	1	1	3	3	1	1	4	9			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:34893992A>G	ENST00000592983.1	+	2	1622	c.1042A>G	c.(1042-1044)Att>Gtt	p.I348V	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.I348V			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	348					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACTGGCAGCTATTAGCCTCTT	0.363																																																	0													85	78	80					17																	34893992		2203	4300	6503	SO:0001583	missense	0			AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"Phosphatidylinositol glycan anchor biosynthesis"	23213	protein-coding gene	gene with protein product		610275	"phosphatidylinositol glycan, class W"			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1042A>G	17.37:g.34893992A>G	ENSP00000468778:p.Ile348Val		Q8N9G3	Missense_Mutation	SNP	pfam_GWT1,pirsf_GWT1	p.I348V	ENST00000592983.1	37	c.1042	CCDS11313.1	17	.	.	.	.	.	.	.	.	.	.	A	0.278	-0.988103	0.02162	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.49	-0.858	0.10689	.	0.568294	0.18988	N	0.125678	T	0.14056	0.0340	N	0.12961	0.28	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.11155	-1.0599	8	.	.	.	-4.5546	1.1745	0.01832	0.3027:0.1377:0.3394:0.2202	.	348	Q7Z7B1	PIGW_HUMAN	V	348	.	.	I	+	1	0	PIGW	31968105	0.717000	0.27966	0.170000	0.22879	0.915000	0.54546	0.288000	0.18939	0.124000	0.18369	0.459000	0.35465	ATT	PIGW	-	pfam_GWT1,pirsf_GWT1	ENSG00000184886		0.363	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGW	HGNC	protein_coding	OTTHUMT00000451318.1		0	43	0	A	NM_178517		34893992	1			no_errors	ENST00000328396	ensembl	human	known	74_37	missense	21.62	29	8	SNP	0.001	G	G	34893992	A	G	34893992	3	3	120	1	0	0	0	0	1	0	0	0	11941	449	16	4	1044	4	PIGW	17	34893992	Missense_Mutation	SNP	A	TCGA-LN-A4MR-01A-11D-A28B-09	1545293	34893992	46301218	150	31681											
MED1	5469	genome.wustl.edu	37	chr17	37566025	37566025	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtcaaacagggtactctGagaatgcccagagcttgaag	14	7	12	8	0	2	4	1	2	1	3	2	5	2	4	1	1	4	2	1	1	4	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:37566025G>A	ENST00000300651.6	-	17	2672	c.2449C>T	c.(2449-2451)Cag>Tag	p.Q817*	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)		AGGGTACTCTGAGAATGCCCA	0.453										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													79	81	80					17																	37566025		2203	4300	6503	SO:0001587	stop_gained	0			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.2449C>T	17.37:g.37566025G>A	ENSP00000300651:p.Gln817*		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Nonsense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.Q817*	ENST00000300651.6	37	c.2449	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.859846	0.97893	.	.	ENSG00000125686	ENST00000300651	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-6.5751	20.5666	0.99351	0.0:0.0:1.0:0.0	.	.	.	.	X	817	.	ENSP00000300651:Q817X	Q	-	1	0	MED1	34819551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.473000	0.73572	2.854000	0.98071	0.655000	0.94253	CAG	MED1	-	NULL	ENSG00000125686		0.453	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	-	0	70	0	G	NM_004774		37566025	-1	tier1	-	no_errors	ENST00000300651	ensembl	human	known	74_37	nonsense	22.92	37	11	SNP	1.000	A	A	37566025	G	A	37566025	4	1	120	1	0	0	0	0	0	1	0	0	9463	1299	45	3	2300	3	MED1	17	37566025	Nonsense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	2672033	37566025	43629185	151	31682											
JUP	3728	genome.wustl.edu	37	chr17	39921275	39921275	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcataactgtagttacgcatGatctgcacgagggcctgggg	9	10	13	9	2	2	1	1	1	1	0	2	2	2	1	1	3	3	4	1	3	3	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:39921275G>C	ENST00000393931.3	-	6	1072	c.954C>G	c.(952-954)atC>atG	p.I318M	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.I318M|JUP_ENST00000310706.5_Missense_Mutation_p.I318M	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	318					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)		AGTTACGCATGATCTGCACGA	0.537																																					Colon(16;42 520 6044 17852 28530)												0													135	111	119					17																	39921275		2203	4300	6503	SO:0001583	missense	0			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.954C>G	17.37:g.39921275G>C	ENSP00000377508:p.Ile318Met		Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.I318M	ENST00000393931.3	37	c.954	CCDS11407.1	17	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522462	0.85600	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.65364	-0.15;-0.15;-0.15	6.08	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81927	0.4926	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85744	0.1339	10	0.87932	D	0	-50.974	14.4491	0.67372	0.0712:0.0:0.9288:0.0	.	318	P14923	PLAK_HUMAN	M	318	ENSP00000377507:I318M;ENSP00000311113:I318M;ENSP00000377508:I318M	ENSP00000311113:I318M	I	-	3	3	JUP	37174801	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.988000	0.56951	1.586000	0.49944	0.655000	0.94253	ATC	JUP	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	ENSG00000173801		0.537	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257406.1		0	27	0	G			39921275	-1			no_errors	ENST00000310706	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	C	C	39921275	G	C	39921275	3	2	120	1	0	0	0	0	1	0	0	0	7999	1280	45	5	1319	5	JUP	17	39921275	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	2355250	39921275	41273935	152	31683											
AOC3	8639	genome.wustl.edu	37	chr17	41006530	41006530	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctgtgccctggagccctGagcaccagctgcagaggctg	6	7	15	13	0	0	2	0	1	0	1	0	3	0	3	3	3	5	5	3	3	0	0			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:41006530G>C	ENST00000308423.2	+	2	1826	c.1666G>C	c.(1666-1668)Gag>Cag	p.E556Q	AOC3_ENST00000591562.1_Missense_Mutation_p.E13Q	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	556					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTGGAGCCCTGAGCACCAGCT	0.652																																					NSCLC(3;192 220 10664 11501 16477)												0													45	42	43					17																	41006530		2203	4300	6503	SO:0001583	missense	0			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1666G>C	17.37:g.41006530G>C	ENSP00000312326:p.Glu556Gln		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.E556Q	ENST00000308423.2	37	c.1666	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064879	0.55432	.	.	ENSG00000131471	ENST00000308423	T	0.03635	3.86	5.32	4.34	0.51931	Copper amine oxidase, C-terminal (3);	0.191023	0.44097	D	0.000500	T	0.09512	0.0234	M	0.85945	2.785	0.47374	D	0.999401	B	0.23806	0.091	B	0.23419	0.046	T	0.02533	-1.1145	10	0.42905	T	0.14	.	15.7111	0.77629	0.0:0.1455:0.8545:0.0	.	556	Q16853	AOC3_HUMAN	Q	556	ENSP00000312326:E556Q	ENSP00000312326:E556Q	E	+	1	0	AOC3	38260056	0.814000	0.29104	0.998000	0.56505	0.989000	0.77384	0.882000	0.28186	1.230000	0.43646	0.563000	0.77884	GAG	AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000131471		0.652	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	-	0	92	0	G	NM_003734		41006530	1	tier1	-	no_errors	ENST00000308423	ensembl	human	known	74_37	missense	38.81	41	26	SNP	0.983	C	C	41006530	G	C	41006530	3	2	120	1	0	0	0	0	1	0	0	0	728	1291	45	5	1672	5	AOC3	17	41006530	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	1085255	41006530	40188680	153	31684											
HEATR6	63897	genome.wustl.edu	37	chr17	58153567	58153567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgattaagaggtaccagtCggcaagcctggacaagaaga	14	7	12	8	1	1	4	0	1	1	3	2	5	1	5	2	3	2	2	2	3	5	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:58153567C>A	ENST00000184956.6	-	2	267	c.251G>T	c.(250-252)cGa>cTa	p.R84L	HEATR6_ENST00000585712.1_5'Flank|HEATR6_ENST00000585976.1_Missense_Mutation_p.R84L	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	84							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGGTACCAGTCGGCAAGCCTG	0.378																																																	0													72	63	66					17																	58153567		2203	4300	6503	SO:0001583	missense	0			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.251G>T	17.37:g.58153567C>A	ENSP00000184956:p.Arg84Leu		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R84L	ENST00000184956.6	37	c.251	CCDS11623.1	17	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736400	0.15574	.	.	ENSG00000068097	ENST00000184956	T	0.42513	0.97	5.1	0.822	0.18806	Armadillo-like helical (1);	0.283280	0.36066	N	0.002813	T	0.29716	0.0742	L	0.56769	1.78	0.36077	D	0.842543	P	0.37276	0.589	B	0.23150	0.044	T	0.32534	-0.9903	10	0.54805	T	0.06	-1.2382	8.4685	0.32971	0.0:0.5894:0.0:0.4106	.	84	Q6AI08	HEAT6_HUMAN	L	84	ENSP00000184956:R84L	ENSP00000184956:R84L	R	-	2	0	HEATR6	55508349	0.995000	0.38212	0.998000	0.56505	0.863000	0.49368	0.841000	0.27613	0.268000	0.21939	-0.149000	0.13747	CGA	HEATR6	-	NULL	ENSG00000068097		0.378	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1	-	0	25	0	C	NM_022070		58153567	-1	tier1	-	no_errors	ENST00000184956	ensembl	human	known	74_37	missense	55.56	12	15	SNP	0.988	A	A	58153567	C	A	58153567	3	1	120	1	0	0	0	0	1	0	0	0	7060	884	31	2	3370	2	HEATR6	17	58153567	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	17147037	58153567	23041643	154	31685											
ABCA10	10349	genome.wustl.edu	37	chr17	67193205	67193205	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagtttttctttttacCttgcaatgcttctacttttc	6	20	7	8	0	2	0	0	0	2	0	3	2	2	1	1	1	4	3	1	1	3	10			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr17:67193205C>T	ENST00000269081.4	-	12	2143	c.1234G>A	c.(1234-1236)Ggc>Agc	p.G412S	ABCA10_ENST00000416101.2_Splice_Site_p.G412S|ABCA10_ENST00000432313.2_Splice_Site_p.G412R	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	412	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)					TTCTTTTTACCTTGCAATGCT	0.438																																																	0													143	134	137					17																	67193205		2198	4298	6496	SO:0001630	splice_region_variant	0			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.1234+1G>A	17.37:g.67193205C>T			C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G412S	ENST00000269081.4	37	c.1234	CCDS11684.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.06|18.06	3.538221|3.538221	0.65085|0.65085	.|.	.|.	ENSG00000154263|ENSG00000154263	ENST00000432313|ENST00000269081;ENST00000416101	D|T;D	0.86956|0.94232	-2.19|0.96;-3.38	3.6|3.6	3.6|3.6	0.41247|0.41247	.|ABC transporter-like (1);	0.000000|0.000000	0.33005|0.33005	U|U	0.005387|0.005387	D|D	0.89918|0.89918	0.6854|0.6854	L|L	0.42744|0.42744	1.35|1.35	0.80722|0.80722	D|D	1|1	.|P	.|0.51791	.|0.948	.|P	.|0.46885	.|0.53	D|D	0.87512|0.87512	0.2440|0.2440	7|9	.|.	.|.	.|.	.|.	7.6137|7.6137	0.28145|0.28145	0.0:0.8278:0.0:0.1722|0.0:0.8278:0.0:0.1722	.|.	.|412	.|Q8WWZ4	.|ABCAA_HUMAN	R|S	412|412	ENSP00000387674:G412R|ENSP00000269081:G412S;ENSP00000407772:G412S	.|.	G|G	-|-	1|1	0|0	ABCA10|ABCA10	64704800|64704800	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.686000|0.686000	0.39977|0.39977	2.001000|2.001000	0.40825|0.40825	1.822000|1.822000	0.53115|0.53115	0.460000|0.460000	0.39030|0.39030	GGA|GGC	ABCA10	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000154263		0.438	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	-	0	46	0	C	NM_080282	Missense_Mutation	67193205	-1	tier1	-	no_errors	ENST00000269081	ensembl	human	known	74_37	missense	29.41	24	10	SNP	1.000	T	T	67193205	C	T	67193205	5	4	120	1	0	0	0	0	0	0	1	0	29	695	24	3	3513	3	ABCA10	17	67193205	Splice_Site	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	9039638	67193205	14002005	155	31686											
C18orf34	374864	genome.wustl.edu	37	chr18	30873263	30873263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaatagactgttaagttGatatatctctctcctaggga	13	14	7	7	0	3	2	1	1	2	1	5	3	3	3	1	1	0	2	1	1	6	6			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr18:30873263G>T	ENST00000383096.3	-	12	1218	c.1036C>A	c.(1036-1038)Caa>Aaa	p.Q346K	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.Q346K|CCDC178_ENST00000579947.1_Missense_Mutation_p.Q346K|CCDC178_ENST00000402325.1_Missense_Mutation_p.Q346K|CCDC178_ENST00000406524.2_Missense_Mutation_p.Q346K|CCDC178_ENST00000403303.1_Missense_Mutation_p.Q346K|CCDC178_ENST00000300227.8_Missense_Mutation_p.Q346K			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	346																	CTGTTAAGTTGATATATCTCT	0.313																																																	0													82	77	78					18																	30873263		2196	4288	6484	SO:0001583	missense	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1036C>A	18.37:g.30873263G>T	ENSP00000372576:p.Gln346Lys		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.Q346K	ENST00000383096.3	37	c.1036	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.209326	0.00292	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	3.68	1.22	0.21188	.	.	.	.	.	T	0.09113	0.0225	N	0.04508	-0.205	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	0.36817	-0.9732	9	0.02654	T	1	-7.2244	7.9536	0.30029	0.0:0.0:0.4508:0.5492	.	346;346;346;346	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	K	346	ENSP00000385591:Q346K;ENSP00000372576:Q346K;ENSP00000300227:Q346K;ENSP00000385867:Q346K;ENSP00000385234:Q346K	ENSP00000300227:Q346K	Q	-	1	0	C18orf34	29127261	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.258000	0.18387	0.246000	0.21394	-0.500000	0.04577	CAA	CCDC178	-	NULL	ENSG00000166960		0.313	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2	-	0	34	0	G	NM_198995		30873263	-1	tier1	-	no_errors	ENST00000406524	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.002	T	T	30873263	G	T	30873263	3	4	120	1	0	0	0	0	1	0	0	0	1909	1299	45	3	1615	3	C18orf34	18	30873263	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		30873263	47203985	156	31687											
BSG	682	genome.wustl.edu	37	chr19	577776	577776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgctctccccacagccGgcttcgtccaggcgccgctg	3	7	12	19	6	1	0	0	0	1	0	4	0	2	0	5	2	2	3	5	2	0	1	rs539913003	byFrequency	TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:577776G>A	ENST00000333511.3	+	2	140	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	BSG_ENST00000574970.1_3'UTR|BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	24					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)		CCCCACAGCCGGCTTCGTCCA	0.706													G|||	3	0.000599042	0	0	5008	,	,		14875	0.003		0	False		,,,				2504	0																0													6	6	6					19																	577776		2066	4010	6076	SO:0001583	missense	0			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.70G>A	19.37:g.577776G>A	ENSP00000333769:p.Gly24Ser		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G24S	ENST00000333511.3	37	c.70	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452598	0.84209	.	.	ENSG00000172270	ENST00000333511	T	0.59638	0.25	3.15	3.15	0.36227	Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000001	T	0.62368	0.2422	L	0.39397	1.21	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.57271	-0.7840	10	0.08381	T	0.77	-26.1149	13.1633	0.59557	0.0:0.0:1.0:0.0	.	24	P35613	BASI_HUMAN	S	24	ENSP00000333769:G24S	ENSP00000333769:G24S	G	+	1	0	BSG	528776	1.000000	0.71417	0.487000	0.27428	0.016000	0.09150	6.666000	0.74446	1.438000	0.47492	0.455000	0.32223	GGC	BSG	-	NULL	ENSG00000172270		0.706	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	-	0	16	0	G	NM_001728		577776	1	tier1	-	no_errors	ENST00000333511	ensembl	human	known	74_37	missense	30.77	9	4	SNP	1.000	A	A	577776	G	A	577776	3	1	120	1	0	0	0	0	1	0	0	0	1533	1116	39	1	112	1	BSG	19	577776	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		577776	58551207	157	31688											
GTF2F1	2962	genome.wustl.edu	37	chr19	6380476	6380476	+	Missense_Mutation	SNP	T	T	G	0	1	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	tcaggtagcggcgcacggcaTcctcagtcacctgcacgtcg	7	7	12	15	5	3	0	3	0	0	0	5	0	4	0	2	3	2	4	2	3	1	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:6380476T>G	ENST00000394456.5	-	13	1834	c.1370A>C	c.(1369-1371)gAt>gCt	p.D457A	GTF2F1_ENST00000429701.2_Missense_Mutation_p.D372A|PSPN_ENST00000597721.1_5'Flank	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	457					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						GCGCACGGCATCCTCAGTCAC	0.607																																																	0													160	146	151					19																	6380476		2203	4300	6503	SO:0001583	missense	0				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.1370A>C	19.37:g.6380476T>G	ENSP00000377969:p.Asp457Ala		B2RCS0|Q9BWN0	Missense_Mutation	SNP	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	p.D457A	ENST00000394456.5	37	c.1370	CCDS12165.1	19	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410343	0.62399	.	.	ENSG00000125651	ENST00000394456;ENST00000429701	T;T	0.50001	0.76;0.76	4.52	3.51	0.40186	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.190950	0.42420	D	0.000702	T	0.39886	0.1095	L	0.46157	1.445	0.58432	D	0.999998	P;B;B	0.44090	0.826;0.201;0.393	B;B;B	0.42462	0.388;0.197;0.197	T	0.11275	-1.0594	10	0.27785	T	0.31	-38.3083	9.233	0.37448	0.0:0.0883:0.0:0.9117	.	372;355;457	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	A	457;372	ENSP00000377969:D457A;ENSP00000392107:D372A	ENSP00000377969:D457A	D	-	2	0	GTF2F1	6331476	1.000000	0.71417	0.490000	0.27465	0.679000	0.39708	7.236000	0.78154	0.885000	0.36088	0.533000	0.62120	GAT	GTF2F1	-	pfam_TFIIF-alpha	ENSG00000125651		0.607	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F1	HGNC	protein_coding	OTTHUMT00000398033.1	-	0	138	0	T	NM_002096		6380476	-1	tier1	-	no_errors	ENST00000394456	ensembl	human	known	74_37	missense	41.74	67	48	SNP	0.994	G	G	6380476	T	G	6380476	3	3	120	1	0	0	0	0	1	0	0	0	6885	1435	50	4	187	4	GTF2F1	19	6380476	Missense_Mutation	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	5802700	6380476	52748507	158	31689											
C3	718	genome.wustl.edu	37	chr19	6697514	6697514	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggtctgctggtgacgcctCttggtggtggccaggctgca	4	10	16	11	2	2	1	0	1	2	0	2	1	2	1	2	6	2	3	2	6	0	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:6697514C>T	ENST00000245907.6	-	21	2729	c.2637G>A	c.(2635-2637)aaG>aaA	p.K879K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	879					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)	GGTGACGCCTCTTGGTGGTGG	0.582																																																	0													107	84	92					19																	6697514		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2637G>A	19.37:g.6697514C>T			A7E236	Silent	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.K879	ENST00000245907.6	37	c.2637	CCDS32883.1	19																																																																																			C3	-	NULL	ENSG00000125730		0.582	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	-	0	100	0	C	NM_000064		6697514	-1	tier1	-	no_errors	ENST00000245907	ensembl	human	known	74_37	silent	36.52	73	42	SNP	0.969	T	T	6697514	C	T	6697514	2	4	120	1	0	0	0	0	0	0	0	1	2211	912	32	3		3	C3	19	6697514	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	317038	6697514	52431469	159	31690											
OR1M1	125963	genome.wustl.edu	37	chr19	9204692	9204692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgggaccaccattggcGtctatctgtgtccctcctcg	5	13	9	14	2	3	0	0	0	3	0	6	1	5	1	4	2	0	0	4	2	2	3	rs144608760		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:9204692G>A	ENST00000429566.3	+	1	838	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V258I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CACCATTGGCGTCTATCTGTG	0.557																																																	2	Substitution - Missense(2)	lung(2)							ILE/VAL	0,4406		0,0,2203	164	148	153		772	3.7	0	19	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR1M1	NM_001004456.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	258/314	9204692	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"GPCR / Class A : Olfactory receptors"	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.772G>A	19.37:g.9204692G>A	ENSP00000401966:p.Val258Ile		B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V258I	ENST00000429566.3	37	c.772	CCDS32896.1	19	.	.	.	.	.	.	.	.	.	.	g	16.75	3.208312	0.58343	0.0	1.16E-4	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.00091	8.74	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.151400	0.31507	N	0.007525	T	0.00271	0.0008	L	0.38175	1.15	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.57165	-0.7858	10	0.72032	D	0.01	.	8.6151	0.33826	0.1093:0.0:0.8907:0.0	.	258	Q8NGA1	OR1M1_HUMAN	I	261;258	ENSP00000401966:V258I	ENSP00000303195:V261I	V	+	1	0	OR1M1	9065692	0.000000	0.05858	0.039000	0.18376	0.478000	0.33099	0.054000	0.14205	2.083000	0.62718	0.580000	0.79431	GTC	OR1M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000170929		0.557	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1M1	HGNC	protein_coding	OTTHUMT00000448993.1	-	0	47	0	G			9204692	1	tier1	rs144608760	no_errors	ENST00000429566	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.001	A	A	9204692	G	A	9204692	3	1	120	1	0	0	0	0	1	0	0	0	11007	1145	40	1	774	1	OR1M1	19	9204692	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	2507178	9204692	49924291	160	31691											
ZNF443	10224	genome.wustl.edu	37	chr19	12541042	12541042	+	Silent	SNP	T	T	C	0	1	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	ccacattccttacattcataTgggttctctccagtgtgagt	8	15	7	11	0	2	1	1	1	1	0	5	1	4	1	3	1	1	1	3	1	2	5	rs2112851		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:12541042T>C	ENST00000301547.5	-	4	2141	c.1944A>G	c.(1942-1944)ccA>ccG	p.P648P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	648					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATATGGGTTCTCTC	0.393																																																	0													136	138	137					19																	12541042		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1944A>G	19.37:g.12541042T>C				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P648	ENST00000301547.5	37	c.1944	CCDS32918.1	19																																																																																			ZNF443	-	pfscan_Znf_C2H2	ENSG00000180855		0.393	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1		0	133	0	T	NM_005815		12541042	-1			no_errors	ENST00000301547	ensembl	human	known	74_37	silent	10.87	82	10	SNP	0.000	C	C	12541042	T	C	12541042	2	2	120	1	0	0	0	0	0	0	0	1	17964	1451	51	4		4	ZNF443	19	12541042	Silent	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	3336350	12541042	46587941	161	31692											
BRD4	23476	genome.wustl.edu	37	chr19	15367010	15367010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccttcttgtctttctccTttttctttggtttgttctgc	0	26	5	10	0	5	0	0	0	5	0	7	0	6	0	2	1	1	2	2	1	0	9			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:15367010T>C	ENST00000263377.2	-	9	1837	c.1616A>G	c.(1615-1617)aAg>aGg	p.K539R	BRD4_ENST00000371835.4_Missense_Mutation_p.K539R|BRD4_ENST00000360016.5_Missense_Mutation_p.K539R|BRD4_ENST00000602230.1_5'UTR	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	539	BID region.|Lys-rich.				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)			gtctttctcctttttctttgg	0.458			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													149	140	143					19																	15367010		2203	4300	6503	SO:0001583	missense	0			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.1616A>G	19.37:g.15367010T>C	ENSP00000263377:p.Lys539Arg		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K539R	ENST00000263377.2	37	c.1616	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542994	0.86022	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.13657	2.57;2.57;2.57	5.55	5.55	0.83447	.	0.176912	0.39020	N	0.001500	T	0.33731	0.0873	L	0.58669	1.825	0.54753	D	0.999985	D;D;D	0.69078	0.997;0.996;0.993	D;D;D	0.75484	0.985;0.986;0.978	T	0.02464	-1.1155	10	0.56958	D	0.05	-21.8564	14.6817	0.69023	0.0:0.0:0.0:1.0	.	539;539;539	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	R	539	ENSP00000263377:K539R;ENSP00000360901:K539R;ENSP00000353112:K539R	ENSP00000263377:K539R	K	-	2	0	BRD4	15228010	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.122000	0.65172	0.459000	0.35465	AAG	BRD4	-	NULL	ENSG00000141867		0.458	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	-	0	78	0	T	NM_058243		15367010	-1	tier1	-	no_errors	ENST00000263377	ensembl	human	known	74_37	missense	37.35	52	31	SNP	1.000	C	C	15367010	T	C	15367010	3	2	120	1	0	0	0	0	1	0	0	0	1508	1609	56	4	2535	4	BRD4	19	15367010	Missense_Mutation	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	2825968	15367010	43761973	162	31693											
NWD1	284434	genome.wustl.edu	37	chr19	16884031	16884031	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctatgccaacaggcccaGagctggttccagttgtgcgc	8	8	12	13	1	0	1	0	0	0	1	1	1	1	1	3	2	5	4	3	2	2	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:16884031G>A	ENST00000552788.1	+	9	2505	c.2505G>A	c.(2503-2505)caG>caA	p.Q835Q	NWD1_ENST00000549814.1_Silent_p.Q835Q|NWD1_ENST00000379808.3_Silent_p.Q835Q|NWD1_ENST00000524140.2_Silent_p.Q835Q|NWD1_ENST00000339803.6_Silent_p.Q700Q|NWD1_ENST00000523826.1_Silent_p.Q629Q			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	835							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AACAGGCCCAGAGCTGGTTCC	0.622																																																	0													66	63	64					19																	16884031		2203	4299	6502	SO:0001819	synonymous_variant	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2505G>A	19.37:g.16884031G>A			C9J021|Q68CT3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q835	ENST00000552788.1	37	c.2505		19																																																																																			NWD1	-	NULL	ENSG00000188039		0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	-	0	55	0	G	NM_001007525		16884031	1	tier1	-	no_errors	ENST00000379808	ensembl	human	known	74_37	silent	50.00	20	20	SNP	0.916	A	A	16884031	G	A	16884031	2	1	120	1	0	0	0	0	0	0	0	1	10820	933	33	3		3	NWD1	19	16884031	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	1517021	16884031	42244952	163	31694											
ATP13A1	57130	genome.wustl.edu	37	chr19	19766338	19766338	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaggccgtggcgcttaccTtcaatccatacataggcagc	10	8	10	13	2	1	1	1	0	0	1	2	1	2	1	3	3	3	2	3	3	4	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:19766338T>C	ENST00000357324.6	-	10	1421	c.1395A>G	c.(1393-1395)gaA>gaG	p.E465E	ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Splice_Site_p.E347E	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	465						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						GGCGCTTACCTTCAATCCATA	0.612																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												0													80	73	75					19																	19766338		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1396+1A>G	19.37:g.19766338T>C			B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.E465	ENST00000357324.6	37	c.1395	CCDS32970.2	19																																																																																			ATP13A1	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000105726		0.612	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	-	0	72	0	T	NM_020410	Silent	19766338	-1	tier1	-	no_errors	ENST00000357324	ensembl	human	known	74_37	silent	25.93	39	14	SNP	1.000	C	C	19766338	T	C	19766338	5	2	120	1	0	0	0	0	0	0	1	0	1124	1623	56	4	2287	4	ATP13A1	19	19766338	Splice_Site	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	2882307	19766338	39362645	164	31695											
ZNF737	100129842	genome.wustl.edu	37	chr19	20736632	20736632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatggccacgtctctaaattGcaatggcccctgaaacacac	12	9	7	13	1	1	1	0	1	1	0	2	1	1	1	3	2	2	1	3	2	5	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:20736632G>T	ENST00000427401.4	-	2	107	c.13C>A	c.(13-15)Caa>Aaa	p.Q5K	ZNF737_ENST00000596797.1_Missense_Mutation_p.Q5K|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	5	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						TCTCTAAATTGCAATGGCCCC	0.408																																																	0													31	28	29					19																	20736632		692	1591	2283	SO:0001583	missense	0			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.13C>A	19.37:g.20736632G>T	ENSP00000395733:p.Gln5Lys		C9JHM3	Nonsense_Mutation	SNP	NULL	p.C37*	ENST00000427401.4	37	c.111	CCDS54238.1	19	.	.	.	.	.	.	.	.	.	.	N	5.345	0.248921	0.10130	.	.	ENSG00000237440	ENST00000427401	T	0.01613	4.73	0.819	-1.64	0.08318	.	.	.	.	.	T	0.00666	0.0022	N	0.00801	-1.175	0.09310	N	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.46857	-0.9161	9	0.66056	D	0.02	.	2.9567	0.05878	0.0:0.0:0.5111:0.4888	.	5	C9JHM3	.	K	5	ENSP00000395733:Q5K	ENSP00000395733:Q5K	Q	-	1	0	ZNF737	20528472	0.014000	0.17966	0.108000	0.21378	0.117000	0.20001	0.250000	0.18235	0.191000	0.20236	0.194000	0.17425	CAA	ZNF737	-	NULL	ENSG00000237440		0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	-	0	70	0	G	NM_145289		20736632	-1	tier1	-	no_errors	ENST00000597940	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.006	T	T	20736632	G	T	20736632	3	4	120	1	0	0	0	0	1	0	0	0	18174	1328	46	3	1609	3	ZNF737	19	20736632	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	970294	20736632	38392351	165	31696											
ZNF429	353088	genome.wustl.edu	37	chr19	21712490	21712490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttacagatgtggccataGaattctctctggaggagtgg	10	12	12	7	0	2	2	0	0	2	2	3	4	2	4	1	4	1	0	1	4	3	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:21712490G>A	ENST00000358491.4	+	2	242	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Missense_Mutation_p.E12K	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	12	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						TGTGGCCATAGAATTCTCTCT	0.443																																																	0													90	99	96					19																	21712490		2203	4299	6502	SO:0001583	missense	0			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.34G>A	19.37:g.21712490G>A	ENSP00000351280:p.Glu12Lys		A6NLV7|Q9BZE6	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.E12K	ENST00000358491.4	37	c.34	CCDS42537.1	19	.	.	.	.	.	.	.	.	.	.	.	9.727	1.161185	0.21538	.	.	ENSG00000197013	ENST00000358491	T	0.01767	4.65	0.926	0.926	0.19430	Krueppel-associated box (4);	.	.	.	.	T	0.07279	0.0184	M	0.79258	2.445	0.22918	N	0.998567	D	0.89917	1.0	D	0.87578	0.998	T	0.26573	-1.0099	9	0.62326	D	0.03	.	3.0573	0.06188	0.0:0.2907:0.4181:0.2912	.	12	Q86V71	ZN429_HUMAN	K	12	ENSP00000351280:E12K	ENSP00000351280:E12K	E	+	1	0	ZNF429	21504330	0.494000	0.26043	0.070000	0.20053	0.080000	0.17528	-0.167000	0.09940	0.308000	0.22923	0.313000	0.20887	GAA	ZNF429	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197013		0.443	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	-	0	97	0	G	NM_001001415		21712490	1	tier1	-	no_errors	ENST00000597078	ensembl	human	putative	74_37	missense	34.34	65	34	SNP	0.940	A	A	21712490	G	A	21712490	3	1	120	1	0	0	0	0	1	0	0	0	17950	943	33	3	40	3	ZNF429	19	21712490	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	975858	21712490	37416493	166	31697											
ZNF208	7757	genome.wustl.edu	37	chr19	22157331	22157331	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgcaaatgtttctttcCagtatgccttatcttatgtc	9	18	5	9	0	2	0	0	0	2	0	4	0	3	0	2	0	2	3	2	0	4	6	rs148173796		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:22157331C>A	ENST00000397126.4	-	4	653	c.505G>T	c.(505-507)Gga>Tga	p.G169*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G169R(1)		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)				TGTTTCTTTCCAGTATGCCTT	0.323																																																	1	Substitution - Missense(1)	skin(1)											107	104	105					19																	22157331		2036	4224	6260	SO:0001587	stop_gained	0			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.505G>T	19.37:g.22157331C>A	ENSP00000380315:p.Gly169*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G169*	ENST00000397126.4	37	c.505	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309891	0.60414	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	1.41	0.0978	0.14495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	6.6671	0.23047	0.0:0.6994:0.3006:0.0	.	.	.	.	X	169	.	ENSP00000380315:G169X	G	-	1	0	ZNF208	21949171	0.007000	0.16637	0.000000	0.03702	0.477000	0.33069	1.292000	0.33342	-0.071000	0.12886	0.289000	0.19496	GGA	ZNF208	-	NULL	ENSG00000160321		0.323	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	158	0	C	NM_007153		22157331	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	nonsense	19.71	110	27	SNP	0.361	A	A	22157331	C	A	22157331	4	1	120	1	0	0	0	0	0	1	0	0	17814	603	21	3	3341	3	ZNF208	19	22157331	Nonsense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	444841	22157331	36971652	167	31698											
CD22	933	genome.wustl.edu	37	chr19	35828840	35828840	+	Missense_Mutation	SNP	A	A	G	1	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	taaacctgcgcgaagtgaccAaggaccagagtgggaagtac	14	5	13	9	2	0	2	0	1	0	1	0	5	0	4	3	2	3	1	3	2	6	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:35828840A>G	ENST00000085219.5	+	5	967	c.901A>G	c.(901-903)Aag>Gag	p.K301E	CD22_ENST00000536635.2_Missense_Mutation_p.K301E|CD22_ENST00000419549.2_Missense_Mutation_p.K129E|CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.K301E|CD22_ENST00000594250.1_Intron|CD22_ENST00000270311.6_Missense_Mutation_p.K181E	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	301	Ig-like C2-type 2.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGAAGTGACCAAGGACCAGAG	0.577																																					Ovarian(42;1009 1133 23674 26041)												0													109	73	85					19																	35828840		2203	4300	6503	SO:0001583	missense	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.901A>G	19.37:g.35828840A>G	ENSP00000085219:p.Lys301Glu		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K301E	ENST00000085219.5	37	c.901	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504195	0.64410	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	5.02	3.92	0.45320	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.517070	0.17941	N	0.156848	T	0.12561	0.0305	N	0.20530	0.585	0.22656	N	0.998882	P;D;D;D	0.63046	0.814;0.992;0.992;0.992	P;D;D;D	0.64877	0.719;0.93;0.917;0.914	T	0.09400	-1.0676	10	0.07325	T	0.83	.	8.4499	0.32864	0.813:0.0:0.0:0.187	.	129;301;301;301	Q32M46;F5GYU4;F5H7U3;P20273	.;.;.;CD22_HUMAN	E	301;301;301;181;129	ENSP00000085219:K301E;ENSP00000442279:K301E;ENSP00000441237:K301E;ENSP00000270311:K181E;ENSP00000403822:K129E	ENSP00000085219:K301E	K	+	1	0	CD22	40520680	0.760000	0.28428	0.959000	0.39883	0.005000	0.04900	1.801000	0.38843	1.894000	0.54839	0.383000	0.25322	AAG	CD22	-	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000012124		0.577	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	-	0	55	0	A	NM_001771		35828840	1	tier1	-	no_errors	ENST00000085219	ensembl	human	known	74_37	missense	10.42	43	5	SNP	0.494	G	G	35828840	A	G	35828840	3	3	120	1	0	0	0	0	1	0	0	0	2992	131	5	4	915	4	CD22	19	35828840	Missense_Mutation	SNP	A	TCGA-LN-A4MR-01A-11D-A28B-09	13671509	35828840	23300143	168	31699											
HAUS5	23354	genome.wustl.edu	37	chr19	36110935	36110935	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaagcccctgcccacggtCctcccatccatccaccagct	7	8	6	20	1	0	1	0	1	0	0	4	1	4	1	8	1	3	1	8	1	1	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:36110935C>A	ENST00000203166.5	+	16	1453	c.1428C>A	c.(1426-1428)gtC>gtA	p.V476V	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	476					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TGCCCACGGTCCTCCCATCCA	0.672																																																	0													86	98	94					19																	36110935		1987	4142	6129	SO:0001819	synonymous_variant	0			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1428C>A	19.37:g.36110935C>A			B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	NULL	p.V476	ENST00000203166.5	37	c.1428	CCDS42550.1	19																																																																																			HAUS5	-	NULL	ENSG00000249115		0.672	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2		0	70	0	C			36110935	1			no_errors	ENST00000203166	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.696	A	A	36110935	C	A	36110935	2	1	120	1	0	0	0	0	0	0	0	1	6996	842	30	3		3	HAUS5	19	36110935	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	282095	36110935	23018048	169	31700											
PSMC4	5704	genome.wustl.edu	37	chr19	40487135	40487135	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tccgtgaaaaccgctacattGtcctggccaaggacttcgag	10	9	10	12	3	0	1	0	1	0	0	3	3	2	2	4	2	2	1	4	2	4	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:40487135G>T	ENST00000157812.2	+	11	1378	c.1180G>T	c.(1180-1182)Gtc>Ttc	p.V394F	PSMC4_ENST00000455878.2_Missense_Mutation_p.V363F	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	394					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)|blastocyst development (GO:0001824)|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)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|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)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCGCTACATTGTCCTGGCCAA	0.493																																					Colon(105;1478 1543 4034 6132 38638)												0													202	164	177					19																	40487135		2203	4300	6503	SO:0001583	missense	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.1180G>T	19.37:g.40487135G>T	ENSP00000157812:p.Val394Phe		Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.V394F	ENST00000157812.2	37	c.1180	CCDS12547.1	19	.	.	.	.	.	.	.	.	.	.	g	18.47	3.631838	0.67015	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95554	-3.74;-3.74	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	H	0.96691	3.865	0.80722	D	1	P;B	0.35600	0.511;0.028	B;B	0.37047	0.24;0.031	D	0.97962	1.0338	10	0.87932	D	0	-14.7818	16.0109	0.80402	0.0:0.0:1.0:0.0	.	363;394	P43686-2;P43686	.;PRS6B_HUMAN	F	394;363	ENSP00000157812:V394F;ENSP00000413869:V363F	ENSP00000157812:V394F	V	+	1	0	PSMC4	45178975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.486000	0.90451	2.646000	0.89796	0.561000	0.74099	GTC	PSMC4	-	superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45	ENSG00000013275		0.493	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1	-	0	36	0	G	NM_006503		40487135	1	tier1	-	no_errors	ENST00000157812	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	40487135	G	T	40487135	3	4	120	1	0	0	0	0	1	0	0	0	12731	1377	48	3	1222	3	PSMC4	19	40487135	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	4376200	40487135	18641848	170	31701											
SERTAD3	29946	genome.wustl.edu	37	chr19	40947559	40947559	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtcatccaggccagagtcCcccaagtaccgggagctcag	11	5	11	14	1	2	1	2	0	0	1	4	2	4	2	5	2	2	2	5	2	3	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:40947559C>T	ENST00000322354.3	-	2	925	c.429G>A	c.(427-429)ggG>ggA	p.G143G	SERTAD3_ENST00000392028.4_Silent_p.G143G|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000601217.1_5'Flank	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	143					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCCAGAGTCCCCCAAGTACC	0.572																																																	0													72	77	76					19																	40947559		2203	4300	6503	SO:0001819	synonymous_variant	0			AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"RPA-binding trans-activator"	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.429G>A	19.37:g.40947559C>T			B3KQB3|Q96CQ2	Silent	SNP	pfam_SERTA,pfscan_SERTA	p.G143	ENST00000322354.3	37	c.429	CCDS12558.1	19																																																																																			SERTAD3	-	NULL	ENSG00000167565		0.572	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SERTAD3	HGNC	protein_coding	OTTHUMT00000462573.1	-	0	64	0	C	NM_013368		40947559	-1	tier1	-	no_errors	ENST00000322354	ensembl	human	known	74_37	silent	37.78	28	17	SNP	0.365	T	T	40947559	C	T	40947559	2	4	120	1	0	0	0	0	0	0	0	1	14167	610	22	3		3	SERTAD3	19	40947559	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	460424	40947559	18181424	171	31702											
ADCK4	79934	genome.wustl.edu	37	chr19	41206003	41206003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcatcatacaggaagttgGcccagttggggtcagtctgc	9	9	14	9	0	3	0	2	0	1	0	3	1	3	1	1	5	2	3	1	5	2	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:41206003G>T	ENST00000324464.3	-	12	1413	c.1112C>A	c.(1111-1113)gCc>gAc	p.A371D	ADCK4_ENST00000450541.1_Missense_Mutation_p.A330D|ADCK4_ENST00000243583.6_Missense_Mutation_p.A330D	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	371	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)			CAGGAAGTTGGCCCAGTTGGG	0.502																																																	0													112	93	100					19																	41206003		2203	4300	6503	SO:0001583	missense	0			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.1112C>A	19.37:g.41206003G>T	ENSP00000315118:p.Ala371Asp		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.A371D	ENST00000324464.3	37	c.1112	CCDS12562.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.618120	0.96649	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.70631	-0.5;-0.5;-0.5	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.107186	0.64402	D	0.000006	D	0.85496	0.5710	M	0.87180	2.865	0.58432	D	0.999997	D;D	0.59357	0.985;0.961	P;P	0.60541	0.811;0.876	D	0.87244	0.2268	10	0.87932	D	0	-16.6763	18.9943	0.92806	0.0:0.0:1.0:0.0	.	371;330	Q96D53;Q96D53-2	ADCK4_HUMAN;.	D	371;330;330	ENSP00000315118:A371D;ENSP00000412839:A330D;ENSP00000243583:A330D	ENSP00000243583:A330D	A	-	2	0	ADCK4	45897843	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.631000	0.98424	2.789000	0.95967	0.655000	0.94253	GCC	ADCK4	-	superfamily_Kinase-like_dom	ENSG00000123815		0.502	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADCK4	HGNC	protein_coding	OTTHUMT00000462731.1	-	0	34	0	G	NM_024876		41206003	-1	tier1	-	no_errors	ENST00000324464	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	T	T	41206003	G	T	41206003	3	4	120	1	0	0	0	0	1	0	0	0	290	1203	42	3	538	3	ADCK4	19	41206003	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	258444	41206003	17922980	172	31703											
CYP2B6	1555	genome.wustl.edu	37	chr19	41515957	41515957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaacctcaacacgctctCgctcttctttgctggcactg	6	12	6	17	2	5	0	2	0	3	0	6	0	5	0	2	1	3	4	2	1	2	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:41515957C>T	ENST00000324071.4	+	6	888	c.881C>T	c.(880-882)tCg>tTg	p.S294L	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	294					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	AACACGCTCTCGCTCTTCTTT	0.582																																																	0													170	121	138					19																	41515957		2203	4300	6503	SO:0001583	missense	0			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.881C>T	19.37:g.41515957C>T	ENSP00000324648:p.Ser294Leu		B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like	p.S294L	ENST00000324071.4	37	c.881	CCDS12570.1	19	.	.	.	.	.	.	.	.	.	.	.	24.3	4.511995	0.85389	.	.	ENSG00000197408	ENST00000324071	T	0.68181	-0.31	4.58	1.04	0.20106	.	0.222627	0.36555	N	0.002521	T	0.75860	0.3907	M	0.81341	2.54	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.63332	-0.6661	10	0.87932	D	0	.	2.9495	0.05856	0.3145:0.4416:0.1533:0.0906	.	294	P20813	CP2B6_HUMAN	L	294	ENSP00000324648:S294L	ENSP00000324648:S294L	S	+	2	0	CYP2B6	46207797	0.000000	0.05858	0.075000	0.20258	0.903000	0.53119	0.548000	0.23314	0.563000	0.29222	0.550000	0.68814	TCG	CYP2B6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000197408		0.582	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2B6	HGNC	protein_coding	OTTHUMT00000463260.1	-	0	114	0	C	NM_000767		41515957	1	tier1	-	no_errors	ENST00000324071	ensembl	human	known	74_37	missense	49.57	58	57	SNP	0.001	T	T	41515957	C	T	41515957	3	4	120	1	0	0	0	0	1	0	0	0	4173	893	31	1	903	1	CYP2B6	19	41515957	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	309954	41515957	17613026	173	31704											
PSG2	5670	genome.wustl.edu	37	chr19	43579505	43579505	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	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	agaggaacagaagatactcaCggaggagattcagggtgact	15	6	14	6	1	2	5	2	1	0	4	2	8	2	7	0	4	2	0	0	4	3	2	rs148538148	byFrequency	TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:43579505C>A	ENST00000406487.1	-	3	808		c.e3+1			NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2						cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.?(1)		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)				AAGATACTCACGGAGGAGATT	0.532																																																	1	Unknown(1)	prostate(1)											189	201	197					19																	43579505		2202	4299	6501	SO:0001630	splice_region_variant	0				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.709+1G>T	19.37:g.43579505C>A			Q8TCD9|Q9UEA4|Q9UQ78	Splice_Site	SNP	-	e3+1	ENST00000406487.1	37	c.709+1	CCDS12616.1	19	.	.	.	.	.	.	.	.	.	.	C	2.582	-0.297170	0.05532	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	.	.	.	1.33	0.149	0.14863	.	.	.	.	.	.	.	.	.	.	.	0.29837	N	0.829554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.9368	0.09309	0.0:0.7437:0.0:0.2563	.	.	.	.	.	-1	.	.	.	-	.	.	PSG2	48271345	0.734000	0.28142	0.006000	0.13384	0.003000	0.03518	0.992000	0.29667	-0.088000	0.12506	-0.391000	0.06502	.	PSG2	-	-	ENSG00000242221		0.532	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG2	HGNC	protein_coding	OTTHUMT00000323083.1	-	0	231	0	C	NM_031246	Intron	43579505	-1	tier1	-	no_errors	ENST00000406487	ensembl	human	known	74_37	splice_site	19.30	184	44	SNP	0.048	A	A	43579505	C	A	43579505	5	1	120	1	0	0	0	0	0	0	1	0	12697	550	19	2	309	2	PSG2	19	43579505	Splice_Site	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	2063548	43579505	15549478	174	31705											
ZNF428	126299	genome.wustl.edu	37	chr19	44112223	44112223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcttcggagtccggctctGagagagtgtattctgaatca	8	12	11	10	2	4	3	1	2	3	1	6	5	5	4	2	2	0	2	2	2	2	3			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:44112223G>A	ENST00000300811.3	-	3	559	c.113C>T	c.(112-114)tCa>tTa	p.S38L	SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	38	Glu-rich.						metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				GTCCGGCTCTGAGAGAGTGTA	0.552																																																	0													36	36	36					19																	44112223		2173	4219	6392	SO:0001583	missense	0			AY257197	CCDS12626.1	19q13.31	2008-05-02	2006-07-04	2006-07-04				"Zinc fingers, C2H2-type"	20804	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 37"	C19orf37			Standard	NM_182498		Approved	MGC51082, Zfp428	uc002oxa.3	Q96B54		ENST00000300811.3:c.113C>T	19.37:g.44112223G>A	ENSP00000300811:p.Ser38Leu		O95054|Q6X3Y3	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.S38L	ENST00000300811.3	37	c.113	CCDS12626.1	19	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399185	0.62177	.	.	ENSG00000131116	ENST00000300811;ENST00000391964	.	.	.	4.77	4.77	0.60923	.	0.000000	0.36893	N	0.002352	T	0.54287	0.1849	N	0.14661	0.345	0.36112	D	0.844873	P	0.51449	0.945	D	0.66351	0.943	T	0.66348	-0.5946	9	0.87932	D	0	-1.2052	13.1514	0.59492	0.0:0.0:1.0:0.0	.	38	Q96B54	ZN428_HUMAN	L	38	.	ENSP00000300811:S38L	S	-	2	0	ZNF428	48804063	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.029000	0.57253	2.483000	0.83821	0.563000	0.77884	TCA	ZNF428	-	NULL	ENSG00000131116		0.552	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF428	HGNC	protein_coding	OTTHUMT00000463349.1	-	0	36	0	G	NM_182498		44112223	-1	tier1	-	no_errors	ENST00000300811	ensembl	human	known	74_37	missense	35.00	13	7	SNP	1.000	A	A	44112223	G	A	44112223	3	1	120	1	0	0	0	0	1	0	0	0	17949	1294	45	3	457	3	ZNF428	19	44112223	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	532718	44112223	15016760	175	31706											
APOE	348	genome.wustl.edu	37	chr19	45411884	45411884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cggaggagacgcgggcacggCtgtccaaggagctgcaggcg	8	3	19	11	5	0	1	0	0	0	1	1	4	1	3	1	6	2	4	1	6	1	0			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:45411884C>A	ENST00000252486.4	+	4	442	c.331C>A	c.(331-333)Ctg>Atg	p.L111M		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	111	8 X 22 AA approximate tandem repeats.				aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCGGGCACGGCTGTCCAAGGA	0.682																																																	0													22	19	20					19																	45411884		2195	4299	6494	SO:0001583	missense	0			K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.331C>A	19.37:g.45411884C>A	ENSP00000252486:p.Leu111Met		B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	pfam_ApoA1_A4_E	p.L111M	ENST00000252486.4	37	c.331	CCDS12647.1	19	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950012	0.53186	.	.	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	D;D;D	0.83591	-1.74;-1.74;-1.74	5.36	-3.62	0.04543	Apolipoprotein/apolipophorin (1);	0.877167	0.09610	N	0.779039	D	0.83348	0.5235	M	0.71581	2.175	0.09310	N	1	P	0.40083	0.702	P	0.45167	0.472	T	0.78254	-0.2275	10	0.72032	D	0.01	-13.0477	12.715	0.57109	0.2042:0.1776:0.6182:0.0	.	111	P02649	APOE_HUMAN	M	111;111;156;111	ENSP00000252486:L111M;ENSP00000413135:L111M;ENSP00000410423:L111M	ENSP00000252486:L111M	L	+	1	2	APOE	50103724	0.033000	0.19621	0.004000	0.12327	0.854000	0.48673	-0.368000	0.07543	-0.316000	0.08690	0.561000	0.74099	CTG	APOE	-	pfam_ApoA1_A4_E	ENSG00000130203		0.682	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOE	HGNC	protein_coding	OTTHUMT00000250865.2	-	0	43	0	C	NM_000041		45411884	1	tier1	-	no_errors	ENST00000252486	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.010	A	A	45411884	C	A	45411884	3	1	120	1	0	0	0	0	1	0	0	0	802	796	28	3	341	3	APOE	19	45411884	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	1299661	45411884	13717099	176	31707											
IGFL2	147920	genome.wustl.edu	37	chr19	46664041	46664041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttgagctctgctgtcttGattcctttggcctcacaaac	6	15	8	12	0	3	2	1	2	2	0	4	2	4	2	2	1	3	3	2	1	1	4			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:46664041G>C	ENST00000377693.4	+	3	280	c.244G>C	c.(244-246)Gat>Cat	p.D82H	IGFL2_ENST00000434646.2_Missense_Mutation_p.D93H|IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	82						extracellular region (GO:0005576)				cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		CTGCTGTCTTGATTCCTTTGG	0.527																																																	0													181	188	186					19																	46664041		2199	4299	6498	SO:0001583	missense	0			AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.244G>C	19.37:g.46664041G>C	ENSP00000366922:p.Asp82His		E9PAV1|Q6B9Z3	Missense_Mutation	SNP	NULL	p.D93H	ENST00000377693.4	37	c.277	CCDS46121.1	19	.	.	.	.	.	.	.	.	.	.	G	9.249	1.040244	0.19669	.	.	ENSG00000204866	ENST00000434646;ENST00000377693	T;T	0.23754	1.89;1.89	2.6	0.25	0.15535	.	.	.	.	.	T	0.16769	0.0403	N	0.14661	0.345	0.09310	N	1	P;P	0.41569	0.731;0.755	B;B	0.44224	0.256;0.444	T	0.16867	-1.0388	9	0.59425	D	0.04	-26.8739	6.9972	0.24789	0.0:0.0:0.5089:0.4911	.	82;93	Q6UWQ7;Q6UWQ7-2	IGFL2_HUMAN;.	H	93;82	ENSP00000395219:D93H;ENSP00000366922:D82H	ENSP00000366922:D82H	D	+	1	0	IGFL2	51355881	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.387000	0.07361	0.156000	0.19299	0.405000	0.27470	GAT	IGFL2	-	NULL	ENSG00000204866		0.527	IGFL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGFL2	HGNC	protein_coding	OTTHUMT00000461705.1	-	0	79	0	G	NM_001002915		46664041	1	tier1	-	no_errors	ENST00000434646	ensembl	human	known	74_37	missense	35.44	51	28	SNP	0.000	C	C	46664041	G	C	46664041	3	2	120	1	0	0	0	0	1	0	0	0	7614	1290	45	5	310	5	IGFL2	19	46664041	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	1252157	46664041	12464942	177	31708											
SIGLEC6	946	genome.wustl.edu	37	chr19	52032987	52032987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacactcacaatgcacaaAgagactcagagagatttgca	16	6	7	12	0	2	3	2	0	0	3	2	5	2	3	1	0	2	2	1	0	2	1			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:52032987A>G	ENST00000425629.3	-	5	1157	c.1003T>C	c.(1003-1005)Ttt>Ctt	p.F335L	SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.F346L|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.F319L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.F283L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.F324L|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.F335L	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	335					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CAATGCACAAAGAGACTCAGA	0.582																																																	0													35	38	37					19																	52032987		2152	4275	6427	SO:0001583	missense	0			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1003T>C	19.37:g.52032987A>G	ENSP00000401502:p.Phe335Leu		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F335L	ENST00000425629.3	37	c.1003	CCDS12834.3	19	.	.	.	.	.	.	.	.	.	.	A	0.331	-0.955971	0.02267	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	3.71	2.68	0.31781	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.191890	0.25732	N	0.028665	T	0.31796	0.0808	N	0.02721	-0.515	0.09310	N	1	B;B;B;B;B;B	0.15719	0.003;0.005;0.002;0.006;0.014;0.008	B;B;B;B;B;B	0.20577	0.01;0.013;0.01;0.008;0.018;0.03	T	0.15435	-1.0437	10	0.26408	T	0.33	.	5.645	0.17584	0.8712:0.0:0.1288:0.0	.	346;283;324;335;319;335	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	L	308;319;335;346;283;335	ENSP00000401502:F335L;ENSP00000353071:F346L;ENSP00000410679:F283L;ENSP00000345907:F335L	ENSP00000345907:F335L	F	-	1	0	SIGLEC6	56724799	0.154000	0.22792	0.025000	0.17156	0.043000	0.13939	0.853000	0.27777	0.605000	0.29947	0.421000	0.28195	TTT	SIGLEC6	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000105492		0.582	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	HGNC	protein_coding	OTTHUMT00000257670.3	-	0	73	0	A	NM_001245		52032987	-1	tier1	-	no_errors	ENST00000425629	ensembl	human	known	74_37	missense	37.78	28	17	SNP	0.044	G	G	52032987	A	G	52032987	3	3	120	1	0	0	0	0	1	0	0	0	14357	72	3	4	374	4	SIGLEC6	19	52032987	Missense_Mutation	SNP	A	TCGA-LN-A4MR-01A-11D-A28B-09	5368946	52032987	7095996	178	31709											
ZNF350	59348	genome.wustl.edu	37	chr19	52468501	52468501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccacactcgttacagccaTagggtctctctcctgtatga	8	12	7	14	1	2	1	0	1	2	0	6	1	3	1	3	1	2	2	3	1	3	3	rs150778438		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:52468501T>C	ENST00000243644.4	-	5	1432	c.1205A>G	c.(1204-1206)tAt>tGt	p.Y402C	HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	402					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GTTACAGCCATAGGGTCTCTC	0.453																																																	0								T	CYS/TYR	0,4406		0,0,2203	81	74	77		1205	2.4	0.4	19	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF350	NM_021632.3	194	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	probably-damaging	402/533	52468501	2,13004	2203	4300	6503	SO:0001583	missense	0			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"Zinc fingers, C2H2-type", "-"	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1205A>G	19.37:g.52468501T>C	ENSP00000243644:p.Tyr402Cys		Q96G73|Q9HAQ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y402C	ENST00000243644.4	37	c.1205	CCDS12845.1	19	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746486	0.30955	0.0	2.33E-4	ENSG00000256683	ENST00000243644	T	0.25414	1.8	3.52	2.42	0.29668	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33515	N	0.004825	T	0.26774	0.0655	M	0.76433	2.335	0.09310	N	1	P	0.48016	0.904	B	0.41571	0.36	T	0.25916	-1.0118	10	0.87932	D	0	.	6.9089	0.24325	0.4422:0.0:0.0:0.5578	.	402	Q9GZX5	ZN350_HUMAN	C	402	ENSP00000243644:Y402C	ENSP00000243644:Y402C	Y	-	2	0	ZNF350	57160313	0.000000	0.05858	0.430000	0.26722	0.681000	0.39784	-0.420000	0.07062	1.483000	0.48342	0.482000	0.46254	TAT	ZNF350	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256683		0.453	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF350	HGNC	protein_coding	OTTHUMT00000462278.1	-	0	74	0	T	NM_021632		52468501	-1	tier1	rs150778438	no_errors	ENST00000243644	ensembl	human	known	74_37	missense	38.00	31	19	SNP	0.046	C	C	52468501	T	C	52468501	3	2	120	1	0	0	0	0	1	0	0	0	17911	1406	49	4	397	4	ZNF350	19	52468501	Missense_Mutation	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	435514	52468501	6660482	179	31710											
LILRA5	353514	genome.wustl.edu	37	chr19	54823234	54823234	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgctctgtcatggatggGatggagaatctggccttgtt	6	14	15	6	0	3	1	1	0	2	1	3	4	3	3	1	5	1	2	1	5	1	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:54823234G>T	ENST00000301219.3	-	4	428	c.309C>A	c.(307-309)atC>atA	p.I103I	LILRA5_ENST00000346508.3_Silent_p.I91I|LILRA5_ENST00000446712.3_Silent_p.I91I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Silent_p.I103I	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	103	Ig-like C2-type 1.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCATGGATGGGATGGAGAATC	0.592																																																	0													354	307	323					19																	54823234		2203	4300	6503	SO:0001819	synonymous_variant	0			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.309C>A	19.37:g.54823234G>T			A6NHI3	Silent	SNP	smart_Ig_sub,smart_Ig_sub2	p.I103	ENST00000301219.3	37	c.309	CCDS12888.1	19																																																																																			LILRA5	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000187116		0.592	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA5	HGNC	protein_coding	OTTHUMT00000140231.1	-	0	71	0	G	NM_181985		54823234	-1	tier1	-	no_errors	ENST00000301219	ensembl	human	known	74_37	silent	9.09	50	5	SNP	0.000	T	T	54823234	G	T	54823234	2	4	120	1	0	0	0	0	0	0	0	1	8817	1164	41	3		3	LILRA5	19	54823234	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	2354733	54823234	4305749	180	31711											
ZNF582	147948	genome.wustl.edu	37	chr19	56895658	56895658	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagttgtgagctcactctAaaggcctttccacatacttt	9	15	7	10	0	2	2	1	2	1	0	3	2	3	2	2	1	2	2	2	1	3	6			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:56895658A>T	ENST00000301310.4	-	5	1286	c.1128T>A	c.(1126-1128)ttT>ttA	p.F376L	ZNF582_ENST00000586929.1_Missense_Mutation_p.F376L	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	376					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)		AGCTCACTCTAAAGGCCTTTC	0.443																																					Ovarian(183;1887 2032 4349 30507 51343)												0													98	95	96					19																	56895658		2203	4300	6503	SO:0001583	missense	0			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.1128T>A	19.37:g.56895658A>T	ENSP00000301310:p.Phe376Leu		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F376L	ENST00000301310.4	37	c.1128	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067009	0.76301	.	.	ENSG00000018869	ENST00000301310	T	0.46063	0.88	5.0	-6.28	0.02020	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36409	N	0.002602	T	0.64405	0.2595	M	0.90425	3.115	0.09310	N	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.65117	-0.6246	10	0.87932	D	0	.	15.4083	0.74897	0.3106:0.0:0.6894:0.0	.	376;407	Q96NG8;B4DQZ9	ZN582_HUMAN;.	L	376	ENSP00000301310:F376L	ENSP00000301310:F376L	F	-	3	2	ZNF582	61587470	0.000000	0.05858	0.001000	0.08648	0.114000	0.19823	-1.312000	0.02720	-0.987000	0.03494	0.533000	0.62120	TTT	ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000018869		0.443	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	-	0	35	0	A	NM_144690		56895658	-1	tier1	-	no_errors	ENST00000301310	ensembl	human	known	74_37	missense	45.71	19	16	SNP	0.004	T	T	56895658	A	T	56895658	3	4	120	1	0	0	0	0	1	0	0	0	18062	359	13	5	429	5	ZNF582	19	56895658	Missense_Mutation	SNP	A	TCGA-LN-A4MR-01A-11D-A28B-09	2072424	56895658	2233325	181	31712											
ZNF772	400720	genome.wustl.edu	37	chr19	57985077	57985077	+	Silent	SNP	A	A	T	1	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	cacttgtaaggccttgctccAgtgtgtactctttgatgtac	7	15	9	10	0	1	1	0	1	1	0	2	1	2	1	2	1	3	4	2	1	3	6			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr19:57985077A>T	ENST00000343280.4	-	5	1295	c.1035T>A	c.(1033-1035)acT>acA	p.T345T	AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000427512.2_Silent_p.T233T|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000356584.3_Silent_p.T304T	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	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)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		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)|Lung(386;0.174)		GCCTTGCTCCAGTGTGTACTC	0.418																																					Melanoma(5;289 436 14293 15924 30817)												0													118	109	112					19																	57985077		2203	4300	6503	SO:0001819	synonymous_variant	0			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.1035T>A	19.37:g.57985077A>T			A6NJK9|B4DH56|B4DYS0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T345	ENST00000343280.4	37	c.1035	CCDS33133.1	19																																																																																			ZNF772	-	pfscan_Znf_C2H2	ENSG00000197128		0.418	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	HGNC	protein_coding	OTTHUMT00000397447.1	-	0	58	0	A	NM_001024596		57985077	-1	tier1	-	no_errors	ENST00000343280	ensembl	human	known	74_37	silent	40.58	41	28	SNP	0.998	T	T	57985077	A	T	57985077	2	4	120	1	0	0	0	0	0	0	0	1	18193	175	7	5		5	ZNF772	19	57985077	Silent	SNP	A	TCGA-LN-A4MR-01A-11D-A28B-09	1089419	57985077	1143906	182	31713											
ISM1	140862	genome.wustl.edu	37	chr20	13280008	13280009	+	Frame_Shift_Ins	INS	-	-	A																															caagggtgactggagcaggtINSataacgaggcccggcctccc																										TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr20:13280008_13280009insA	ENST00000262487.4	+	6	1303_1304	c.1297_1298insA	c.(1297-1299)tatfs	p.Y433fs	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	433	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTGGAGCAGGTATAACGAGGCC	0.584																																																	0																																										SO:0001589	frameshift_variant	0			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.1298dupA	20.37:g.13280009_13280009dupA	ENSP00000262487:p.Tyr433fs		Q8WVH9	Frame_Shift_Ins	INS	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.Y433fs	ENST00000262487.4	37	c.1297_1298	CCDS46579.1	20																																																																																			ISM1	-	pfam_AMOP,smart_AMOP,pfscan_AMOP	ENSG00000101230		0.584	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	HGNC	protein_coding	OTTHUMT00000078039.2		0	25	0	-			13280009	1	tier1		no_errors	ENST00000262487	ensembl	human	known	74_37	frame_shift_ins	45.45	6	5	INS	1.000:1.000	A	A	13280009	-	A	13280008	7	5	120	1	0	1	1	0	0	0	0	0	7887	1638	57	0	1319	0	ISM1	20	13280008	Frame_Shift_Ins	INS	-	TCGA-LN-A4MR-01A-11D-A28B-09		13280008	49745512	183	31714											
PTPRT	11122	genome.wustl.edu	37	chr20	41419957	41419957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	accattcaccttcacgtagaCgttcaaggcccctgggctgg	8	9	10	14	2	3	1	3	0	0	1	3	1	3	1	4	3	0	3	4	3	2	4	rs369230837		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr20:41419957C>T	ENST00000373187.1	-	3	363	c.364G>A	c.(364-366)Gtc>Atc	p.V122I	PTPRT_ENST00000373193.3_Missense_Mutation_p.V122I|PTPRT_ENST00000373190.1_Missense_Mutation_p.V122I|PTPRT_ENST00000373198.4_Missense_Mutation_p.V122I|PTPRT_ENST00000373201.1_Missense_Mutation_p.V122I|PTPRT_ENST00000373184.1_Missense_Mutation_p.V122I|PTPRT_ENST00000356100.2_Missense_Mutation_p.V122I			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	122	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTCACGTAGACGTTCAAGGCC	0.592																																																	0								C	ILE/VAL,ILE/VAL	0,3932		0,0,1966	71	75	74		364,364	5.7	1	20		74	1,8327		0,1,4163	no	missense,missense	PTPRT	NM_007050.5,NM_133170.3	29,29	0,1,6129	TT,TC,CC		0.012,0.0,0.0082	possibly-damaging,possibly-damaging	122/1442,122/1461	41419957	1,12259	1966	4164	6130	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.364G>A	20.37:g.41419957C>T	ENSP00000362283:p.Val122Ile		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V122I	ENST00000373187.1	37	c.364	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147172	0.57151	0.0	1.2E-4	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.03553	3.89;3.89;3.89;3.89;3.89;3.89;3.89	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.04137	0.0115	L	0.28649	0.875	0.80722	D	1	P;P	0.35551	0.453;0.509	B;B	0.30943	0.075;0.122	T	0.57768	-0.7754	10	0.23891	T	0.37	.	19.7626	0.96329	0.0:1.0:0.0:0.0	.	122;122	O14522-1;O14522	.;PTPRT_HUMAN	I	122	ENSP00000362286:V122I;ENSP00000362283:V122I;ENSP00000362289:V122I;ENSP00000348408:V122I;ENSP00000362294:V122I;ENSP00000362280:V122I;ENSP00000362297:V122I	ENSP00000348408:V122I	V	-	1	0	PTPRT	40853371	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.070000	0.71220	2.676000	0.91093	0.561000	0.74099	GTC	PTPRT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000196090		0.592	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	39	0	C			41419957	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	41419957	C	T	41419957	3	4	120	1	0	0	0	0	1	0	0	0	12857	536	19	1	4138	1	PTPRT	20	41419957	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	28139949	41419957	21605563	184	31715											
SERINC3	10955	genome.wustl.edu	37	chr20	43135470	43135470	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtagtaaacaatcatacctGaatttttgggtggatcgata	14	13	9	5	1	1	1	1	1	0	0	2	3	1	2	1	2	2	2	1	2	7	6			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr20:43135470G>A	ENST00000342374.4	-	6	938	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	SERINC3_ENST00000541235.1_Nonsense_Mutation_p.Q206*|SERINC3_ENST00000255175.1_Nonsense_Mutation_p.Q261*	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	261					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)			AATCATACCTGAATTTTTGGG	0.348																																																	0													89	84	85					20																	43135470		2203	4300	6503	SO:0001587	stop_gained	0			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.781C>T	20.37:g.43135470G>A	ENSP00000340243:p.Gln261*		B4DUE9|O43717|Q9BR33	Nonsense_Mutation	SNP	pfam_TMS_TDE	p.Q261*	ENST00000342374.4	37	c.781	CCDS13333.1	20	.	.	.	.	.	.	.	.	.	.	G	39	7.374012	0.98245	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.3044	0.90175	0.0:0.0:1.0:0.0	.	.	.	.	X	261;261;228;206	.	ENSP00000255175:Q261X	Q	-	1	0	SERINC3	42568884	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.483000	0.97937	2.638000	0.89438	0.467000	0.42956	CAG	SERINC3	-	pfam_TMS_TDE	ENSG00000132824		0.348	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3	-	0	33	0	G	NM_006811		43135470	-1	tier1	-	no_errors	ENST00000255175	ensembl	human	known	74_37	nonsense	38.10	13	8	SNP	1.000	A	A	43135470	G	A	43135470	4	1	120	1	0	0	0	0	0	1	0	0	14126	1299	45	3	660	3	SERINC3	20	43135470	Nonsense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	1715513	43135470	19890050	185	31716											
ZNF512B	57473	genome.wustl.edu	37	chr20	62592679	62592679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctctgcgtgggtcttcaGgatgtggtatttgacgccac	6	12	12	11	2	3	1	1	1	2	0	3	2	3	2	2	3	1	1	2	3	1	3	rs112150897		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr20:62592679G>T	ENST00000450537.1	-	16	2470	c.2410C>A	c.(2410-2412)Ctg>Atg	p.L804M	ZNF512B_ENST00000369888.1_Missense_Mutation_p.L804M|ZNF512B_ENST00000217130.3_Missense_Mutation_p.L804M			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	804					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)					TGGGTCTTCAGGATGTGGTAT	0.642																																																	0													93	80	85					20																	62592679		2203	4300	6503	SO:0001583	missense	0			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.2410C>A	20.37:g.62592679G>T	ENSP00000393795:p.Leu804Met		Q08AK9|Q9ULM4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L804M	ENST00000450537.1	37	c.2410	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308006	0.60305	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24723	1.84;1.84;1.84	5.23	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.132495	0.49916	D	0.000130	T	0.38772	0.1053	L	0.40543	1.245	0.31519	N	0.662679	D	0.76494	0.999	D	0.80764	0.994	T	0.27400	-1.0075	10	0.36615	T	0.2	-31.1214	12.5207	0.56058	0.0:0.0:0.7437:0.2563	.	804	Q96KM6	Z512B_HUMAN	M	804	ENSP00000358904:L804M;ENSP00000393795:L804M;ENSP00000217130:L804M	ENSP00000217130:L804M	L	-	1	2	ZNF512B	62063123	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.519000	0.45546	2.448000	0.82819	0.591000	0.81541	CTG	ZNF512B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196700		0.642	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF512B	HGNC	protein_coding	OTTHUMT00000080246.1	-	0	55	0	G	NM_020713		62592679	-1	tier1	-	no_errors	ENST00000217130	ensembl	human	known	74_37	missense	26.67	33	12	SNP	1.000	T	T	62592679	G	T	62592679	3	4	120	1	0	0	0	0	1	0	0	0	18005	991	35	3	276	3	ZNF512B	20	62592679	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	19457209	62592679	432841	186	31717											
TPTE	7179	genome.wustl.edu	37	chr21	10942941	10942941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgccttcttatcagcttttCaagttgtcttttttgatgaa	7	19	6	9	1	4	2	2	2	2	0	4	2	4	2	2	0	1	2	2	0	3	8			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr21:10942941C>T	ENST00000361285.4	-	12	975	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.E178K|TPTE_ENST00000298232.7_Missense_Mutation_p.E198K	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	216					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCAGCTTTTCAAGTTGTCTT	0.323																																																	0													98	90	92					21																	10942941		2203	4299	6502	SO:0001583	missense	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.646G>A	21.37:g.10942941C>T	ENSP00000355208:p.Glu216Lys		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E216K	ENST00000361285.4	37	c.646	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	12.00	1.806714	0.31961	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98164	-4.76;-4.76;-4.76	2.07	2.07	0.26955	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.95818	0.8639	L	0.44542	1.39	0.58432	D	0.999997	P;B;B	0.36110	0.537;0.383;0.392	B;B;B	0.40134	0.32;0.32;0.173	D	0.93717	0.7029	10	0.31617	T	0.26	-25.1042	10.2257	0.43225	0.0:1.0:0.0:0.0	.	178;198;216	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	K	198;216;178	ENSP00000298232:E198K;ENSP00000355208:E216K;ENSP00000344441:E178K	ENSP00000298232:E198K	E	-	1	0	TPTE	9964812	1.000000	0.71417	0.723000	0.30687	0.078000	0.17371	5.237000	0.65360	1.470000	0.48102	0.194000	0.17425	GAA	TPTE	-	pfam_Ion_trans_dom	ENSG00000166157		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	-	0	176	0	C			10942941	-1	tier1	-	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	9.70	121	13	SNP	1.000	T	T	10942941	C	T	10942941	3	4	120	1	0	0	0	0	1	0	0	0	16478	835	29	3	1061	3	TPTE	21	10942941	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09		10942941	37186954	187	31718											
CXADR	1525	genome.wustl.edu	37	chr21	18938008	18938008	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaggatgggtctatagtaTagagcctccatatgtctcat	11	12	10	8	0	2	1	1	0	2	1	4	2	3	2	2	2	1	2	2	2	6	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr21:18938008T>C	ENST00000284878.7	+	7	1844	c.1096T>C	c.(1096-1098)Tag>Cag	p.*366Q	CXADR_ENST00000400169.1_Intron|CXADR_ENST00000306618.10_Nonstop_Mutation_p.*325Q|CXADR_ENST00000400166.1_3'UTR	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	0					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GTCTATAGTATAGAGCCTCCA	0.438																																																	0													43	43	43					21																	18938008		2201	4290	6491	SO:0001578	stop_lost	0			Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.1096T>C	21.37:g.18938008T>C	ENSP00000284878:p.*366Glnext*19		B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Nonstop_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.*366Q	ENST00000284878.7	37	c.1096	CCDS33519.1	21	.	.	.	.	.	.	.	.	.	.	T	16.91	3.252488	0.59212	.	.	ENSG00000154639	ENST00000284878;ENST00000306618	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.21527	N	0.999656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9905	0.71384	0.0:0.0:0.0:1.0	.	.	.	.	Q	366;325	.	.	X	+	1	0	CXADR	17859879	1.000000	0.71417	0.968000	0.41197	0.353000	0.29299	7.451000	0.80668	2.191000	0.70037	0.533000	0.62120	TAG	CXADR	-	NULL	ENSG00000154639		0.438	CXADR-001	KNOWN	basic|CCDS	protein_coding	CXADR	HGNC	protein_coding	OTTHUMT00000158209.1	-	0	40	0	T			18938008	1	tier1	-	no_errors	ENST00000284878	ensembl	human	known	74_37	nonstop	30.77	26	12	SNP	0.999	C	C	18938008	T	C	18938008	4	2	120	1	0	0	0	0	0	0	0	0	4085	1419	49	4	1122	4	CXADR	21	18938008	Nonstop_Mutation	SNP	T	TCGA-LN-A4MR-01A-11D-A28B-09	7995067	18938008	29191887	188	31719											
BTG3	10950	genome.wustl.edu	37	chr21	18977308	18977308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgaaatttattgacacGaatacatctacaacaaagtg	16	12	5	8	1	2	2	0	2	2	0	3	3	2	2	0	0	3	0	0	0	7	5			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr21:18977308G>T	ENST00000348354.6	-	3	437	c.181C>A	c.(181-183)Cgt>Agt	p.R61S	BTG3_ENST00000339775.6_Missense_Mutation_p.R61S	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	61					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTATTGACACGAATACATCTA	0.373																																																	0													71	68	69					21																	18977308		2203	4300	6503	SO:0001583	missense	0			D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.181C>A	21.37:g.18977308G>T	ENSP00000284879:p.Arg61Ser		D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.R61S	ENST00000348354.6	37	c.181	CCDS13569.1	21	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418267	0.83449	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	5.45	5.45	0.79879	Anti-proliferative protein (3);	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.88979	2.995	0.48975	D	0.999731	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.86542	0.1829	9	0.66056	D	0.02	-16.1342	17.5912	0.87997	0.0:0.0:1.0:0.0	.	61;61	Q14201-2;Q14201	.;BTG3_HUMAN	S	61	.	ENSP00000344609:R61S	R	-	1	0	BTG3	17899179	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.293000	0.51779	2.941000	0.99782	0.655000	0.94253	CGT	BTG3	-	pfam_Anti_prolifrtn,smart_Anti_prolifrtn	ENSG00000154640		0.373	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTG3	HGNC	protein_coding	OTTHUMT00000158196.1		0	43	0	G	NM_006806		18977308	-1			no_errors	ENST00000339775	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	18977308	G	T	18977308	3	4	120	1	0	0	0	0	1	0	0	0	1559	1058	37	2	725	2	BTG3	21	18977308	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	39300	18977308	29152587	189	31720											
DIP2A	23181	genome.wustl.edu	37	chr21	47970533	47970533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttgcccaaggctcctctCggagggattcacatttctga	8	11	9	13	1	3	1	1	1	2	0	5	3	4	3	3	3	1	1	3	3	1	3	rs369236341		TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr21:47970533C>T	ENST00000417564.2	+	23	2736	c.2715C>T	c.(2713-2715)ctC>ctT	p.L905L	DIP2A_ENST00000318711.7_Silent_p.L906L|DIP2A_ENST00000400274.1_Silent_p.L901L|DIP2A_ENST00000427143.2_Silent_p.L841L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	905					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)		AGGCTCCTCTCGGAGGGATTC	0.557																																																	0								C	,,	1,4007		0,1,2003	65	67	66		2523,2703,2715	-10.5	0	21		66	0,8364		0,0,4182	no	coding-synonymous,coding-synonymous,coding-synonymous	DIP2A	NM_001146114.1,NM_001146116.1,NM_015151.3	,,	0,1,6185	TT,TC,CC		0.0,0.025,0.0081	,,	841/1111,901/1568,905/1572	47970533	1,12371	2004	4182	6186	SO:0001819	synonymous_variant	0			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.2715C>T	21.37:g.47970533C>T			A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.L906	ENST00000417564.2	37	c.2718	CCDS46655.1	21																																																																																			DIP2A	-	NULL	ENSG00000160305		0.557	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	-	0	67	0	C	NM_015151		47970533	1	tier1	-	no_errors	ENST00000318711	ensembl	human	known	74_37	silent	30.23	30	13	SNP	0.003	T	T	47970533	C	T	47970533	2	4	120	1	0	0	0	0	0	0	0	1	4541	871	31	1		1	DIP2A	21	47970533	Silent	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	28993225	47970533	159362	190	31721											
TOM1	10043	genome.wustl.edu	37	chr22	35734728	35734728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaatacgaagccccccaaGcaacagacggcctggctgga	14	4	10	13	2	0	1	0	0	0	1	0	3	0	2	4	3	4	2	4	3	6	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr22:35734728G>T	ENST00000449058.2	+	12	1296	c.1171G>T	c.(1171-1173)Gca>Tca	p.A391S	TOM1_ENST00000436462.2_Missense_Mutation_p.A353S|MIR3909_ENST00000579518.1_RNA|TOM1_ENST00000447733.1_Missense_Mutation_p.A358S|TOM1_ENST00000411850.1_Missense_Mutation_p.A391S|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000425375.1_Missense_Mutation_p.A346S	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	391					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						AGCCCCCCAAGCAACAGACGG	0.647																																																	0													34	27	29					22																	35734728		2192	4297	6489	SO:0001583	missense	0			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.1171G>T	22.37:g.35734728G>T	ENSP00000394466:p.Ala391Ser		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.A391S	ENST00000449058.2	37	c.1171	CCDS13913.1	22	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393690	0.62066	.	.	ENSG00000100284	ENST00000447733;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000412456;ENST00000451197;ENST00000436462	T;T;T;T;T	0.26373	1.77;1.8;1.77;1.74;1.77	5.23	4.21	0.49690	.	0.065412	0.64402	D	0.000010	T	0.35422	0.0931	M	0.77103	2.36	0.80722	D	1	P;P;P;P;B	0.50528	0.668;0.936;0.491;0.849;0.03	B;P;B;P;B	0.47251	0.355;0.459;0.24;0.542;0.039	T	0.21449	-1.0245	10	0.23302	T	0.38	-13.8863	12.9121	0.58184	0.0799:0.0:0.9201:0.0	.	346;353;400;391;391	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	S	358;391;391;346;128;400;353	ENSP00000398876:A358S;ENSP00000394466:A391S;ENSP00000413697:A391S;ENSP00000394924:A346S;ENSP00000402556:A353S	ENSP00000413697:A391S	A	+	1	0	TOM1	34064728	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.717000	0.74707	1.171000	0.42768	0.655000	0.94253	GCA	TOM1	-	pirsf_TOM1	ENSG00000100284		0.647	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	HGNC	protein_coding	OTTHUMT00000320641.1	-	0	113	0	G	NM_005488		35734728	1	tier1	-	no_errors	ENST00000411850	ensembl	human	known	74_37	missense	20.43	74	19	SNP	1.000	T	T	35734728	G	T	35734728	3	4	120	1	0	0	0	0	1	0	0	0	16398	971	34	3	1217	3	TOM1	22	35734728	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		35734728	15569838	191	31722											
TNRC6B	23112	genome.wustl.edu	37	chr22	40661412	40661412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaccccatggagaataaggGaatgccctttggaatgggct	13	8	12	8	0	0	1	0	0	0	1	0	4	0	3	3	4	2	1	3	4	5	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chr22:40661412G>A	ENST00000454349.2	+	5	1389	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	TNRC6B_ENST00000335727.9_Missense_Mutation_p.G393E|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	393	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						GAGAATAAGGGAATGCCCTTT	0.478																																																	0													64	64	64					22																	40661412		1931	4135	6066	SO:0001583	missense	0			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.1178G>A	22.37:g.40661412G>A	ENSP00000401946:p.Gly393Glu		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.G393E	ENST00000454349.2	37	c.1178	CCDS54533.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.512|9.512	1.106119|1.106119	0.20632|0.20632	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000454349;ENST00000400140;ENST00000335727	.|T;T	.|0.61040	.|0.14;0.14	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.113265	.|0.64402	.|D	.|0.000018	T|T	0.60366|0.60366	0.2263|0.2263	N|N	0.17278|0.17278	0.47|0.47	0.44745|0.44745	D|D	0.997747|0.997747	.|D;D;P	.|0.89917	.|1.0;0.963;0.936	.|D;P;P	.|0.85130	.|0.997;0.531;0.722	T|T	0.55366|0.55366	-0.8152|-0.8152	5|10	.|0.13470	.|T	.|0.59	-2.9211|-2.9211	17.4698|17.4698	0.87642|0.87642	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|393;393;393	.|Q9UPQ9;A8MYY3;Q9UPQ9-1	.|TNR6B_HUMAN;.;.	K|E	136|393	.|ENSP00000401946:G393E;ENSP00000338371:G393E	.|ENSP00000338371:G393E	E|G	+|+	1|2	0|0	TNRC6B|TNRC6B	38991358|38991358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.523000|4.523000	0.60545|0.60545	2.369000|2.369000	0.80426|0.80426	0.650000|0.650000	0.86243|0.86243	GAA|GGA	TNRC6B	-	NULL	ENSG00000100354		0.478	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		-	0	28	0	G			40661412	1	tier1	-	no_errors	ENST00000454349	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	A	A	40661412	G	A	40661412	3	1	120	1	0	0	0	0	1	0	0	0	16388	1174	41	3	1317	3	TNRC6B	22	40661412	Missense_Mutation	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09	4926684	40661412	10643154	192	31723											
CFP	5199	genome.wustl.edu	37	chrX	47486320	47486320	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagggcaggggctcacaggGccccaaggcccccagccccc	8	1	13	19	0	1	0	1	0	0	0	1	0	1	0	6	5	1	2	6	5	1	0			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chrX:47486320G>A	ENST00000396992.3	-	6	912	c.792C>T	c.(790-792)ggC>ggT	p.G264G	CFP_ENST00000377005.2_Silent_p.G264G|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Silent_p.G264G	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	264	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGCTCACAGGGCCCCAAGGCC	0.642																																																	0													13	14	13					X																	47486320		2169	4236	6405	SO:0001819	synonymous_variant	0			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.792C>T	X.37:g.47486320G>A			O15134|O15135|O15136|O75826	Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G264	ENST00000396992.3	37	c.792	CCDS14282.1	X																																																																																			CFP	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000126759		0.642	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	-	0	22	0	G	NM_002621		47486320	-1	tier1	-	no_errors	ENST00000247153	ensembl	human	known	74_37	silent	55.56	8	10	SNP	0.000	A	A	47486320	G	A	47486320	2	1	120	1	0	0	0	0	0	0	0	1	3300	1190	42	3		3	CFP	23	47486320	Silent	SNP	G	TCGA-LN-A4MR-01A-11D-A28B-09		47486320	107784240	193	31724											
UBQLN2	29978	genome.wustl.edu	37	chrX	56590987	56590987	+	Frame_Shift_Del	DEL	C	C	-																															atcagtcacctgctcaacaaCccagacataatgaggcagac																										TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chrX:56590987delC	ENST00000338222.5	+	1	962	c.681delC	c.(679-681)aacfs	p.N227fs		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	227					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						TGCTCAACAACCCAGACATAA	0.453																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0													50	50	50					X																	56590987		2203	4300	6503	SO:0001589	frameshift_variant	0			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.681delC	X.37:g.56590987delC	ENSP00000345195:p.Asn227fs		O94798|Q5D027|Q9H3W6|Q9HAZ4	Frame_Shift_Del	DEL	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.P228fs	ENST00000338222.5	37	c.681	CCDS14374.1	X																																																																																			UBQLN2	-	superfamily_ARM-type_fold,smart_STI1_HS-bd	ENSG00000188021		0.453	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	HGNC	protein_coding	OTTHUMT00000056891.1		0	12	0	C	NM_013444		56590987	1	tier1		no_errors	ENST00000338222	ensembl	human	known	74_37	frame_shift_del	33.33	10	5	DEL	1.000	-	-	56590987	C	-	56590987	7	5	120	1	0	1	0	1	0	0	0	0	16946	506	18	0	683	0	UBQLN2	23	56590987	Frame_Shift_Del	DEL	C	TCGA-LN-A4MR-01A-11D-A28B-09	9104667	56590987	98679573	194	31725											
GPR112	139378	genome.wustl.edu	37	chrX	135429365	135429365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatctcaactacgtctaCaccagaagcaactcaaccaa	15	8	5	13	1	3	2	2	1	2	1	4	2	3	2	2	0	6	1	2	0	7	2			TCGA-LN-A4MR-01A-11D-A28B-09	TCGA-LN-A4MR-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ecf994e6-048e-4018-9722-ea4933b798d4	59ed9bfb-00bb-41ef-ad61-c64a5dacb24d	g.chrX:135429365C>T	ENST00000394143.1	+	6	3791	c.3500C>T	c.(3499-3501)aCa>aTa	p.T1167I	GPR112_ENST00000394141.1_Missense_Mutation_p.T962I|GPR112_ENST00000412101.1_Missense_Mutation_p.T962I|GPR112_ENST00000370652.1_Missense_Mutation_p.T1167I|GPR112_ENST00000287534.4_Missense_Mutation_p.T1104I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1167					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)					ACTACGTCTACACCAGAAGCA	0.478																																																	0													189	150	163					X																	135429365		2203	4300	6503	SO:0001583	missense	0			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.3500C>T	X.37:g.135429365C>T	ENSP00000377699:p.Thr1167Ile		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T1167I	ENST00000394143.1	37	c.3500	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097112	0.37048	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39056	1.14;1.14;1.1;1.21;1.1	2.86	-0.274	0.12910	.	.	.	.	.	T	0.40546	0.1121	L	0.32530	0.975	0.09310	N	1	D;D;D	0.65815	0.995;0.99;0.983	P;P;P	0.61003	0.882;0.744;0.559	T	0.21348	-1.0248	9	0.34782	T	0.22	.	2.7906	0.05387	0.2199:0.4916:0.0:0.2885	.	1104;962;1167	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	I	1167;1167;962;1104;962	ENSP00000377699:T1167I;ENSP00000359686:T1167I;ENSP00000416526:T962I;ENSP00000287534:T1104I;ENSP00000377697:T962I	ENSP00000287534:T1104I	T	+	2	0	GPR112	135257031	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.419000	0.07071	-0.355000	0.08199	0.436000	0.28706	ACA	GPR112	-	NULL	ENSG00000156920		0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	-	0	38	0	C			135429365	1	tier1	-	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	18.42	31	7	SNP	0.000	T	T	135429365	C	T	135429365	3	4	120	1	0	0	0	0	1	0	0	0	6655	478	17	3	3510	3	GPR112	23	135429365	Missense_Mutation	SNP	C	TCGA-LN-A4MR-01A-11D-A28B-09	78838378	135429365	19841195	195	31726											
TMCO4	255104	genome.wustl.edu	37	chr1	20066381	20066381	+	Missense_Mutation	SNP	A	A	C	1	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	ctgctgatcgatggagacacAccccccaggggttgtcgatg	8	8	13	12	2	0	2	0	1	0	1	2	5	0	2	3	3	1	2	3	3	0	1			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:20066381A>C	ENST00000294543.6	-	12	1356	c.1115T>G	c.(1114-1116)gTg>gGg	p.V372G	TMCO4_ENST00000375122.2_Missense_Mutation_p.V332G|TMCO4_ENST00000375127.1_Missense_Mutation_p.V372G|TMCO4_ENST00000489814.1_5'Flank	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	372						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)		ATGGAGACACACCCCCCAGGG	0.612																																																	0													71	65	67					1																	20066381		2203	4300	6503	SO:0001583	missense	0				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.1115T>G	1.37:g.20066381A>C	ENSP00000294543:p.Val372Gly		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.V372G	ENST00000294543.6	37	c.1115	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473868	0.84640	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.53206	0.63;0.63;0.63	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	M	0.92026	3.265	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.80372	-0.1410	10	0.87932	D	0	-14.442	13.1602	0.59540	1.0:0.0:0.0:0.0	.	372	Q5TGY1	TMCO4_HUMAN	G	372;372;332	ENSP00000294543:V372G;ENSP00000364269:V372G;ENSP00000364264:V332G	ENSP00000294543:V372G	V	-	2	0	TMCO4	19938968	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	8.738000	0.91569	2.052000	0.61016	0.533000	0.62120	GTG	TMCO4	-	pfam_DUF726,pfam_DUF900_hydrolase	ENSG00000162542		0.612	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	-	0	37	0	A	NM_181719		20066381	-1	tier1	-	no_errors	ENST00000294543	ensembl	human	known	74_37	missense	39.06	39	25	SNP	1.000	C	C	20066381	A	C	20066381	3	2	121	1	0	0	0	0	1	0	0	0	16045	159	6	4	809	4	TMCO4	1	20066381	Missense_Mutation	SNP	A	TCGA-LN-A5U5-01A-21D-A28B-09		20066381	229184240	1	31727											
CNR2	1269	genome.wustl.edu	37	chr1	24201571	24201571	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagtgggaaaagctcagaGcagggcctgggacagcaagt	13	5	15	8	0	2	1	2	0	0	1	2	3	2	3	1	3	3	3	1	3	3	0			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:24201571G>T	ENST00000374472.4	-	2	698	c.537C>A	c.(535-537)tgC>tgA	p.C179*	CNR2_ENST00000536471.1_Nonsense_Mutation_p.C179*	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	179					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)	AAAGCTCAGAGCAGGGCCTGG	0.572																																																	0													61	62	62					1																	24201571		2203	4300	6503	SO:0001587	stop_gained	0			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.537C>A	1.37:g.24201571G>T	ENSP00000363596:p.Cys179*		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_2,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.C179*	ENST00000374472.4	37	c.537	CCDS245.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.026834	0.97216	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	.	.	.	5.92	1.97	0.26223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.901	0.41348	0.3944:0.0:0.6056:0.0	.	.	.	.	X	179	.	ENSP00000363596:C179X	C	-	3	2	CNR2	24074158	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	2.493000	0.45320	0.109000	0.17891	0.650000	0.86243	TGC	CNR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cnbnoid_rcpt	ENSG00000188822		0.572	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR2	HGNC	protein_coding	OTTHUMT00000038949.1		0	77	0	G	NM_001841		24201571	-1			no_errors	ENST00000374472	ensembl	human	known	74_37	nonsense	5.06	74	4	SNP	1.000	T	T	24201571	G	T	24201571	4	4	121	1	0	0	0	0	0	1	0	0	3639	963	34	3	549	3	CNR2	1	24201571	Nonsense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	4135190	24201571	225049050	2	31728											
SGIP1	84251	genome.wustl.edu	37	chr1	67108534	67108534	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctacagcatcagaccCgaggaacccggctatatcct	12	6	10	13	2	1	1	1	0	0	1	2	4	2	2	3	3	3	3	3	3	5	3			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:67108534C>T	ENST00000371037.4	+	6	347	c.270C>T	c.(268-270)ccC>ccT	p.P90P	SGIP1_ENST00000371035.3_Silent_p.P47P|SGIP1_ENST00000371036.3_Silent_p.P65P|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Silent_p.P94P|SGIP1_ENST00000371039.1_Silent_p.P66P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	90					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						GCATCAGACCCGAGGAACCCG	0.318																																																	0													67	76	73					1																	67108534		2203	4300	6503	SO:0001819	synonymous_variant	0			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.270C>T	1.37:g.67108534C>T			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.P94	ENST00000371037.4	37	c.282	CCDS30744.1	1																																																																																			SGIP1	-	NULL	ENSG00000118473		0.318	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4		0	44	0	C	NM_032291		67108534	1			no_errors	ENST00000237247	ensembl	human	known	74_37	silent	18.18	36	8	SNP	0.048	T	T	67108534	C	T	67108534	2	4	121	1	0	0	0	0	0	0	0	1	14251	639	23	1		1	SGIP1	1	67108534	Silent	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	42906963	67108534	182142087	3	31729											
RPE65	6121	genome.wustl.edu	37	chr1	68906589	68906589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcaattgaaaaattttttCcaaagcaattaccaatattg	17	13	5	6	0	0	1	0	1	0	0	1	1	1	1	2	1	2	2	2	1	8	7			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:68906589C>A	ENST00000262340.5	-	6	643	c.590G>T	c.(589-591)gGa>gTa	p.G197V		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	197					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						AAAATTTTTTCCAAAGCAATT	0.398																																																	0													83	86	85					1																	68906589		2203	4300	6503	SO:0001583	missense	0			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.590G>T	1.37:g.68906589C>A	ENSP00000262340:p.Gly197Val		A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.G197V	ENST00000262340.5	37	c.590	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803134	0.70682	.	.	ENSG00000116745	ENST00000262340	D	0.95588	-3.75	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.96038	0.9022	10	0.45353	T	0.12	-22.9706	19.2249	0.93815	0.0:1.0:0.0:0.0	.	197	Q16518	RPE65_HUMAN	V	197	ENSP00000262340:G197V	ENSP00000262340:G197V	G	-	2	0	RPE65	68679177	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.678000	0.68153	2.537000	0.85549	0.585000	0.79938	GGA	RPE65	-	pfam_Carotenoid_Oase	ENSG00000116745		0.398	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	-	0	28	0	C	NM_000329		68906589	-1	tier1	-	no_errors	ENST00000262340	ensembl	human	known	74_37	missense	45.00	11	9	SNP	1.000	A	A	68906589	C	A	68906589	3	1	121	1	0	0	0	0	1	0	0	0	13590	855	30	3	1047	3	RPE65	1	68906589	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	1798055	68906589	180344032	4	31730											
FRRS1	391059	genome.wustl.edu	37	chr1	100207810	100207810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtttttttagatgcacttCtgtgactcactgctgatccc	6	17	7	11	0	2	3	1	2	1	1	3	3	3	3	1	0	2	3	1	0	1	5			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:100207810C>T	ENST00000414213.1	-	5	954	c.353G>A	c.(352-354)aGa>aAa	p.R118K	FRRS1_ENST00000287474.5_Missense_Mutation_p.R118K			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	118	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)		AGATGCACTTCTGTGACTCAC	0.388																																																	0													141	141	141					1																	100207810		2203	4300	6503	SO:0001583	missense	0			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.353G>A	1.37:g.100207810C>T	ENSP00000393884:p.Arg118Lys		A6NLN7	Missense_Mutation	SNP	pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM	p.R118K	ENST00000414213.1	37	c.353		1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734698	0.30774	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.83	1.67	0.24075	.	0.449293	0.24294	N	0.039798	T	0.12646	0.0307	N	0.11427	0.14	0.24087	N	0.995921	B	0.06786	0.001	B	0.15052	0.012	T	0.29427	-1.0012	9	0.19590	T	0.45	-3.2637	18.5889	0.91202	0.0:0.5005:0.4994:0.0	.	118	Q6ZNA5-2	.	K	118	.	ENSP00000287474:R118K	R	-	2	0	FRRS1	99980398	1.000000	0.71417	0.035000	0.18076	0.298000	0.27526	3.558000	0.53749	0.054000	0.16065	-0.147000	0.13772	AGA	FRRS1	-	pfam_Reeler_dom,pfscan_Reeler_dom	ENSG00000156869		0.388	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	FRRS1	HGNC	protein_coding		-	0	37	0	C	NM_001013660		100207810	-1	tier1	-	no_errors	ENST00000287474	ensembl	human	known	74_37	missense	43.24	21	16	SNP	0.990	T	T	100207810	C	T	100207810	3	4	121	1	0	0	0	0	1	0	0	0	6084	913	32	3	1579	3	FRRS1	1	100207810	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	31301221	100207810	149042811	5	31731											
DPH5	51611	genome.wustl.edu	37	chr1	101456046	101456046	+	Frame_Shift_Del	DEL	A	A	-																															tctccatctccattggatgtAtgctgcctcctgtgatgatc																										TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:101456046delA	ENST00000370109.3	-	8	888	c.776delT	c.(775-777)atafs	p.I259fs	DPH5_ENST00000370105.3_5'UTR|AC093157.1_ENST00000593496.1_Frame_Shift_Del_p.M14fs|DPH5_ENST00000488176.1_Frame_Shift_Del_p.I259fs|DPH5_ENST00000427040.2_Frame_Shift_Del_p.I20fs|DPH5_ENST00000342173.7_Frame_Shift_Del_p.I258fs	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	259					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)		CATTGGATGTATGCTGCCTCC	0.433																																																	0													153	148	149					1																	101456046		2063	4199	6262	SO:0001589	frameshift_variant	0			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.776delT	1.37:g.101456046delA	ENSP00000359127:p.Ile259fs		A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Frame_Shift_Del	DEL	pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	p.I259fs	ENST00000370109.3	37	c.776	CCDS41358.1	1																																																																																			DPH5	-	superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	ENSG00000117543		0.433	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPH5	HGNC	protein_coding	OTTHUMT00000029881.1		0	65	0	A	NM_015958		101456046	-1	tier1		no_errors	ENST00000370109	ensembl	human	known	74_37	frame_shift_del	33.33	54	27	DEL	0.984	-	-	101456046	A	-	101456046	7	5	121	1	0	1	0	1	0	0	0	0	4737	449	16	0	85	0	DPH5	1	101456046	Frame_Shift_Del	DEL	A	TCGA-LN-A5U5-01A-21D-A28B-09	1248236	101456046	147794575	6	31732											
FAM63A	55793	genome.wustl.edu	37	chr1	150978596	150978596	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaggagagggggaaggtttCgtgctttcattaaaaggagg	12	9	16	4	1	1	1	1	0	0	1	2	4	1	3	0	6	1	2	0	6	4	3			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:150978596C>T	ENST00000361936.5	-	2	604				PRUNE_ENST00000271620.3_5'Flank|PRUNE_ENST00000368936.1_5'Flank|PRUNE_ENST00000368937.1_5'Flank|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000470877.1_Intron|PRUNE_ENST00000368935.1_5'Flank|FAM63A_ENST00000361738.6_Silent_p.T12T|PRUNE_ENST00000271619.8_5'Flank|FAM63A_ENST00000312210.5_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A							extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGAAGGTTTCGTGCTTTCAT	0.453																																																	0													171	156	161					1																	150978596		692	1591	2283	SO:0001627	intron_variant	0			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.350+191G>A	1.37:g.150978596C>T			B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Silent	SNP	pfam_DUF544	p.T12	ENST00000361936.5	37	c.36	CCDS976.1	1																																																																																			FAM63A	-	NULL	ENSG00000143409		0.453	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	-	0	72	0	C	NM_018379		150978596	-1	tier1	-	no_errors	ENST00000361738	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.000	T	T	150978596	C	T	150978596	1	4	121	0	1	0	0	0	0	0	0	0	5618	871	31	1		1	FAM63A	1	150978596	Intron	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	49522550	150978596	98272025	7	31733											
PI4KB	5298	genome.wustl.edu	37	chr1	151278723	151278723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgggtaataccacattcGggcaagttttctacggacct	10	12	9	10	2	2	0	1	0	1	0	3	1	2	1	2	3	2	3	2	3	4	6			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:151278723G>A	ENST00000368873.1	-	5	1467	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	PI4KB_ENST00000368874.4_Silent_p.P418P|PI4KB_ENST00000271657.5_Silent_p.P445P|PI4KB_ENST00000368875.2_Silent_p.P445P|PI4KB_ENST00000529142.1_Silent_p.P101P|PI4KB_ENST00000368872.1_Silent_p.P418P			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	433					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TACCACATTCGGGCAAGTTTT	0.537																																					Colon(154;765 1838 9854 28443 37492)												0													94	83	87					1																	151278723		2203	4300	6503	SO:0001819	synonymous_variant	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1299C>T	1.37:g.151278723G>A			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P445	ENST00000368873.1	37	c.1335		1																																																																																			PI4KB	-	superfamily_Kinase-like_dom	ENSG00000143393		0.537	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	HGNC	protein_coding	OTTHUMT00000034400.3	-	0	54	0	G	NM_002651		151278723	-1	tier1	-	no_errors	ENST00000271657	ensembl	human	known	74_37	silent	54.17	33	39	SNP	0.020	A	A	151278723	G	A	151278723	2	1	121	1	0	0	0	0	0	0	0	1	11913	1103	39	1		1	PI4KB	1	151278723	Silent	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	300127	151278723	97971898	8	31734											
RGL1	23179	genome.wustl.edu	37	chr1	183867029	183867029	+	Missense_Mutation	SNP	A	A	G	1	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	ggctgcagctccagaaggacAtggtatgtctggccctcgtc	7	9	13	12	1	1	1	0	0	1	1	4	2	2	2	2	4	2	4	2	4	2	1			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:183867029A>G	ENST00000360851.3	+	10	1406	c.1228A>G	c.(1228-1230)Atg>Gtg	p.M410V	RGL1_ENST00000536277.1_Missense_Mutation_p.M408V|RGL1_ENST00000539189.1_Missense_Mutation_p.M410V|RGL1_ENST00000304685.4_Missense_Mutation_p.M445V			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	410	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCAGAAGGACATGGTATGTCT	0.552																																																	0													72	75	74					1																	183867029		2203	4300	6503	SO:0001583	missense	0			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.1228A>G	1.37:g.183867029A>G	ENSP00000354097:p.Met410Val		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.M445V	ENST00000360851.3	37	c.1333		1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423581	0.62733	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.28666	1.76;1.76;1.76;1.76;1.6	5.34	5.34	0.76211	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	L	0.44542	1.39	0.22771	N	0.998751	P;D;B;D;D	0.53312	0.949;0.959;0.0;0.959;0.959	P;P;B;P;P	0.51615	0.546;0.675;0.002;0.675;0.675	T	0.21109	-1.0255	10	0.29301	T	0.29	.	15.304	0.73979	1.0:0.0:0.0:0.0	.	410;408;215;410;445	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	V	445;445;408;215;410;410	ENSP00000303192:M445V;ENSP00000356501:M445V;ENSP00000438662:M408V;ENSP00000354097:M410V;ENSP00000437355:M410V	ENSP00000303192:M445V	M	+	1	0	RGL1	182133652	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.722000	0.68485	2.019000	0.59389	0.533000	0.62120	ATG	RGL1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000143344		0.552	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085742.1	-	0	35	0	A	NM_015149		183867029	1	tier1	-	no_errors	ENST00000304685	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	G	G	183867029	A	G	183867029	3	3	121	1	0	0	0	0	1	0	0	0	13321	217	8	4	1371	4	RGL1	1	183867029	Missense_Mutation	SNP	A	TCGA-LN-A5U5-01A-21D-A28B-09	32588306	183867029	65383592	9	31735											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098928	178098928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctttccgtcgctgactGaagtcaaatacttctcgact	9	14	6	12	3	3	2	1	2	2	0	6	3	4	2	1	0	2	1	1	0	4	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:178098928G>T	ENST00000397062.3	-	2	671	c.117C>A	c.(115-117)ttC>ttA	p.F39L	NFE2L2_ENST00000446151.2_Missense_Mutation_p.F23L|NFE2L2_ENST00000464747.1_Missense_Mutation_p.F23L|NFE2L2_ENST00000397063.4_Missense_Mutation_p.F23L|NFE2L2_ENST00000423513.1_Missense_Mutation_p.F23L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	39					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)			GTCGCTGACTGAAGTCAAATA	0.383			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													90	82	85					2																	178098928		1842	4098	5940	SO:0001583	missense	0				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.117C>A	2.37:g.178098928G>T	ENSP00000380252:p.Phe39Leu		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.F39L	ENST00000397062.3	37	c.117	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316609	0.60524	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.78	1.98	0.26296	.	0.142952	0.64402	D	0.000004	T	0.31702	0.0805	M	0.61703	1.905	0.40772	D	0.983098	B;P;B;B	0.52463	0.307;0.953;0.264;0.307	B;B;B;B	0.44315	0.048;0.446;0.077;0.048	T	0.08868	-1.0701	10	0.51188	T	0.08	.	9.8562	0.41088	0.4913:0.0:0.5087:0.0	.	23;23;23;39	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	L	23;39;23;23;23;23;23	ENSP00000380253:F23L;ENSP00000380252:F39L;ENSP00000411575:F23L;ENSP00000391590:F23L;ENSP00000400073:F23L;ENSP00000412191:F23L;ENSP00000410015:F23L	ENSP00000380252:F39L	F	-	3	2	NFE2L2	177807174	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.805000	0.27112	0.086000	0.17137	0.563000	0.77884	TTC	NFE2L2	-	NULL	ENSG00000116044		0.383	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4		0	60	0	G	NM_006164		178098928	-1			no_errors	ENST00000397062	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	T	T	178098928	G	T	178098928	3	4	121	1	0	0	0	0	1	0	0	0	10407	1281	45	3	1716	3	NFE2L2	2	178098928	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09		178098928	65100445	10	31736			1	33		2	2	17	N	G_-	3.876302e-05
NFE2L2	4780	genome.wustl.edu	37	chr2	178098944	178098945	+	Frame_Shift_Ins	INS	-	-	T																															actgaagtcaaatacttctcINSgacttactccaagatctata																										TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:178098944_178098945insT	ENST00000397062.3	-	2	654_655	c.100_101insA	c.(100-102)cgafs	p.R34fs	NFE2L2_ENST00000446151.2_Frame_Shift_Ins_p.R18fs|NFE2L2_ENST00000464747.1_Frame_Shift_Ins_p.R18fs|NFE2L2_ENST00000397063.4_Frame_Shift_Ins_p.R18fs|NFE2L2_ENST00000423513.1_Frame_Shift_Ins_p.R18fs	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34Q(10)|p.R34G(4)|p.R34P(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCCA	0.371			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	16	Substitution - Missense(16)	lung(14)|endometrium(2)																																								SO:0001589	frameshift_variant	0				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.100_101insA	2.37:g.178098944_178098945insT	ENSP00000380252:p.Arg34fs		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Frame_Shift_Ins	INS	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.R34fs	ENST00000397062.3	37	c.101_100	CCDS42782.1	2																																																																																			NFE2L2	-	NULL	ENSG00000116044		0.371	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4		0	55	0	-	NM_006164		178098945	-1	tier1		no_errors	ENST00000397062	ensembl	human	known	74_37	frame_shift_ins	10.53	17	2	INS	1.000:1.000	T	T	178098945	-	T	178098944	7	5	121	1	0	1	1	0	0	0	0	0	10407	884	31	0	1732	0	NFE2L2	2	178098944	Frame_Shift_Ins	INS	-	TCGA-LN-A5U5-01A-21D-A28B-09	16	178098944	65100429	11	31737			1	33		2	2	17	N	G_-	3.876302e-05
TTN	7273	genome.wustl.edu	37	chr2	179588638	179588638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgacattagcagccacGcatgtgtaattgcccatatc	11	9	8	13	2	0	0	0	0	0	0	1	1	0	0	3	0	4	3	3	0	3	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:179588638G>A	ENST00000591111.1	-	71	20621	c.20397C>T	c.(20395-20397)tgC>tgT	p.C6799C	TTN_ENST00000589042.1_Silent_p.C7116C|TTN_ENST00000342992.6_Silent_p.C5872C|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12397	Ig-like 49.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCAGCCACGCATGTGTAAT	0.423																																																	0													118	115	116					2																	179588638		2022	4187	6209	SO:0001819	synonymous_variant	0			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.20397C>T	2.37:g.179588638G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.C5872	ENST00000591111.1	37	c.17616		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	33	0	G	NM_133378		179588638	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.472	A	A	179588638	G	A	179588638	2	1	121	1	0	0	0	0	0	0	0	1	16784	1079	38	1		1	TTN	2	179588638	Silent	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	1489694	179588638	63610735	12	31738											
FAM171B	165215	genome.wustl.edu	37	chr2	187559026	187559026	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctccgacctcagcctcatCcaacagcagcagcagcagca	11	4	8	18	2	2	0	2	0	0	0	4	1	4	0	4	0	7	6	4	0	1	0			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:187559026C>A	ENST00000304698.5	+	1	329	c.126C>A	c.(124-126)atC>atA	p.I42I	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	42				I -> IQ (in Ref. 1; BAC03660). {ECO:0000305}.|I -> IQQ (in Ref. 3; AAH60872 and 4; AAL57220). {ECO:0000305}.		integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAGCCTCATCcaacagcagc	0.647																																																	0													17	19	19					2																	187559026		2201	4298	6499	SO:0001819	synonymous_variant	0			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.126C>A	2.37:g.187559026C>A			Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	pfam_Uncharacterised_FAM171	p.I42	ENST00000304698.5	37	c.126	CCDS33347.1	2																																																																																			FAM171B	-	NULL	ENSG00000144369		0.647	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	HGNC	protein_coding	OTTHUMT00000334679.1		0	18	0	C	NM_177454		187559026	1			no_errors	ENST00000304698	ensembl	human	known	74_37	silent	8.93	50	5	SNP	1.000	A	A	187559026	C	A	187559026	2	1	121	1	0	0	0	0	0	0	0	1	5510	845	30	3		3	FAM171B	2	187559026	Silent	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	7970388	187559026	55640347	13	31739											
ABI2	10152	genome.wustl.edu	37	chr2	204255850	204255850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctagtccccctatgtcaGggaaagggacacttgggtga	9	8	12	12	0	1	1	1	1	0	0	2	3	2	3	4	3	0	0	4	3	3	3			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:204255850G>T	ENST00000422511.2	+	5	593	c.562G>T	c.(562-564)Ggg>Tgg	p.G188W	ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261016.6_Missense_Mutation_p.G137W|ABI2_ENST00000424558.1_Missense_Mutation_p.G182W|ABI2_ENST00000295851.5_Missense_Mutation_p.G188W|ABI2_ENST00000261017.5_Missense_Mutation_p.G182W|ABI2_ENST00000430418.1_Missense_Mutation_p.G182W|ABI2_ENST00000261018.7_Missense_Mutation_p.G23W			Q9NYB9	ABI2_HUMAN	abl-interactor 2	188	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						CCCTATGTCAGGGAAAGGGAC	0.383																																																	0																																										SO:0001583	missense	0			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.562G>T	2.37:g.204255850G>T	ENSP00000396249:p.Gly188Trp		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.G188W	ENST00000422511.2	37	c.562		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.506370|4.506370	0.85282|0.85282	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018|ENST00000451591;ENST00000454023	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|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73481|0.73481	0.3592|0.3592	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D|.	0.91635|.	0.996;0.996;0.996;0.999;0.999;0.996;0.999;0.998;0.999|.	T|T	0.69767|0.69767	-0.5056|-0.5056	10|5	0.87932|.	D|.	0|.	-11.8148|-11.8148	19.7992|19.7992	0.96500|0.96500	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	23;23;23;126;182;182;137;188;182|.	B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2|.	.;.;.;.;.;.;.;ABI2_HUMAN;.|.	W|H	188;182;182;182;137;188;188;23|53;28	ENSP00000295851:G188W;ENSP00000261017:G182W;ENSP00000408898:G182W;ENSP00000391433:G182W;ENSP00000261016:G137W;ENSP00000414703:G188W;ENSP00000396249:G188W;ENSP00000261018:G23W|.	ENSP00000261016:G137W|.	G|Q	+|+	1|3	0|2	ABI2|ABI2	203964095|203964095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.225000|9.225000	0.95219|0.95219	2.665000|2.665000	0.90641|0.90641	0.591000|0.591000	0.81541|0.81541	GGG|CAG	ABI2	-	NULL	ENSG00000138443		0.383	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	ABI2	HGNC	protein_coding	OTTHUMT00000336179.2	-	0	37	0	G	NM_005759		204255850	1	tier1	-	no_errors	ENST00000295851	ensembl	human	known	74_37	missense	83.33	6	30	SNP	1.000	T	T	204255850	G	T	204255850	3	4	121	1	0	0	0	0	1	0	0	0	89	1000	35	3	558	3	ABI2	2	204255850	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	16696824	204255850	38943523	14	31740											
IDH1	3417	genome.wustl.edu	37	chr2	209106806	209106806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcatagcttgggccacCatgtcgtcgatgagcctatg	8	12	11	10	2	1	1	1	1	0	0	3	3	1	1	3	1	2	1	3	1	2	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:209106806C>T	ENST00000415913.1	-	7	1143	c.762G>A	c.(760-762)atG>atA	p.M254I	IDH1_ENST00000446179.1_Missense_Mutation_p.M254I|IDH1_ENST00000345146.2_Missense_Mutation_p.M254I	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	254					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CTTGGGCCACCATGTCGTCGA	0.468			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)			Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	0													149	141	144					2																	209106806		2203	4300	6503	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.762G>A	2.37:g.209106806C>T	ENSP00000390265:p.Met254Ile		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	p.M254I	ENST00000415913.1	37	c.762	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.773760	0.96922	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	T;T;T	0.69561	-0.41;-0.41;-0.41	6.17	6.17	0.99709	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.88636	0.6490	H	0.96430	3.82	0.80722	D	1	D	0.61697	0.99	D	0.72625	0.978	D	0.90729	0.4641	10	0.87932	D	0	-18.4069	20.8794	0.99867	0.0:1.0:0.0:0.0	.	254	O75874	IDHC_HUMAN	I	254	ENSP00000260985:M254I;ENSP00000410513:M254I;ENSP00000390265:M254I	ENSP00000260985:M254I	M	-	3	0	IDH1	208815051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	ATG	IDH1	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	ENSG00000138413		0.468	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	HGNC	protein_coding	OTTHUMT00000336672.1	-	0	35	0	C			209106806	-1	tier1	-	no_errors	ENST00000345146	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	T	T	209106806	C	T	209106806	3	4	121	1	0	0	0	0	1	0	0	0	7521	594	21	3	498	3	IDH1	2	209106806	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	4850956	209106806	34092567	15	31741											
CTDSP1	58190	genome.wustl.edu	37	chr2	219267102	219267102	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	acgcggacttcatcatccctGtggagattgatggggtggtc	7	11	14	9	2	2	2	2	1	0	1	4	4	3	3	1	5	0	0	1	5	0	2			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:219267102G>C	ENST00000273062.2	+	4	688	c.352G>C	c.(352-354)Gtg>Ctg	p.V118L	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.V117L|MIR26B_ENST00000362251.2_RNA	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	118	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)		CATCATCCCTGTGGAGATTGA	0.622																																																	0													86	83	84					2																	219267102		2203	4300	6503	SO:0001583	missense	0			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.352G>C	2.37:g.219267102G>C	ENSP00000273062:p.Val118Leu		C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.V118L	ENST00000273062.2	37	c.352	CCDS2416.1	2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534586	0.85812	.	.	ENSG00000144579	ENST00000443891;ENST00000273062	T;T	0.17370	2.28;2.28	4.97	4.1	0.47936	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.76170	2.325	0.80722	D	1	B;B	0.33841	0.428;0.428	B;B	0.44085	0.44;0.44	T	0.09818	-1.0657	10	0.72032	D	0.01	-15.1749	12.9216	0.58234	0.0799:0.0:0.9201:0.0	.	118;117	Q9GZU7;C9IYG0	CTDS1_HUMAN;.	L	117;118	ENSP00000392248:V117L;ENSP00000273062:V118L	ENSP00000273062:V118L	V	+	1	0	CTDSP1	218975346	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.396000	0.97270	1.066000	0.40716	0.561000	0.74099	GTG	CTDSP1	-	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	ENSG00000144579		0.622	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSP1	HGNC	protein_coding	OTTHUMT00000256774.1	-	0	76	0	G	NM_182642, NM_021198		219267102	1	tier1	-	no_errors	ENST00000273062	ensembl	human	known	74_37	missense	69.57	21	48	SNP	1.000	C	C	219267102	G	C	219267102	3	2	121	1	0	0	0	0	1	0	0	0	4012	1377	48	5	366	5	CTDSP1	2	219267102	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	10160296	219267102	23932271	16	31742											
STAB1	23166	genome.wustl.edu	37	chr3	52551965	52551965	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccagaggacatgtacctgCgacacagcccacaccgtggg	10	4	13	14	2	0	1	0	0	0	1	0	3	0	2	4	3	3	1	4	3	1	1	rs375629208		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr3:52551965C>A	ENST00000321725.6	+	45	4783	c.4707C>A	c.(4705-4707)tgC>tgA	p.C1569*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1569	EGF-like 13. {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)		CATGTACCTGCGACACAGCCC	0.602																																																	0													67	64	65					3																	52551965		2203	4300	6503	SO:0001587	stop_gained	0			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.4707C>A	3.37:g.52551965C>A	ENSP00000312946:p.Cys1569*		A7E297|Q8IUH0|Q8IUH1|Q93072	Nonsense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.C1569*	ENST00000321725.6	37	c.4707	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	40	7.920866	0.98563	.	.	ENSG00000010327	ENST00000321725	.	.	.	4.81	-4.28	0.03732	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.223	0.48866	0.0:0.5214:0.0:0.4786	.	.	.	.	X	1569	.	ENSP00000312946:C1569X	C	+	3	2	STAB1	52527005	0.000000	0.05858	0.465000	0.27155	0.296000	0.27459	-0.867000	0.04241	-0.619000	0.05648	-1.090000	0.02178	TGC	STAB1	-	superfamily_FAS1_domain,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000010327		0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0	31	0	C	NM_015136		52551965	1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	nonsense	48.15	14	13	SNP	0.035	A	A	52551965	C	A	52551965	4	1	121	1	0	0	0	0	0	1	0	0	15284	776	27	2	4885	2	STAB1	3	52551965	Nonsense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09		52551965	145470465	17	31743											
FILIP1L	11259	genome.wustl.edu	37	chr3	99567929	99567929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctccttggatttcatccagGgaatccatagctttctgtta	8	15	7	11	0	2	0	1	0	1	0	5	2	5	2	4	2	1	2	4	2	3	5			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr3:99567929G>T	ENST00000354552.3	-	5	3061	c.2591C>A	c.(2590-2592)cCc>cAc	p.P864H	CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P440H|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P624H|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P624H|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.P864H	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	864						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						TTTCATCCAGGGAATCCATAG	0.458																																																	0													147	136	140					3																	99567929		1922	4140	6062	SO:0001583	missense	0				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.2591C>A	3.37:g.99567929G>T	ENSP00000346560:p.Pro864His		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.P864H	ENST00000354552.3	37	c.2591	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960568	0.53400	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.60424	0.49;0.22;0.19;0.5;0.2;0.32	5.99	5.11	0.69529	.	0.000000	0.52532	D	0.000079	T	0.73418	0.3584	L	0.59436	1.845	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76753	-0.2843	10	0.87932	D	0	-11.3541	16.5836	0.84722	0.0:0.0:0.8686:0.1314	.	864;864	Q4L180-2;Q4L180	.;FIL1L_HUMAN	H	864;440;624;864;624;610;624	ENSP00000346560:P864H;ENSP00000417774:P440H;ENSP00000419642:P624H;ENSP00000327880:P864H;ENSP00000373192:P624H;ENSP00000419874:P624H	ENSP00000327880:P864H	P	-	2	0	FILIP1L	101050619	1.000000	0.71417	0.918000	0.36340	0.927000	0.56198	9.864000	0.99589	1.515000	0.48885	0.655000	0.94253	CCC	FILIP1L	-	NULL	ENSG00000168386		0.458	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	-	0	81	0	G	NM_014890		99567929	-1	tier1	-	no_errors	ENST00000354552	ensembl	human	known	74_37	missense	43.06	40	31	SNP	1.000	T	T	99567929	G	T	99567929	3	4	121	1	0	0	0	0	1	0	0	0	5917	1232	43	3	845	3	FILIP1L	3	99567929	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	47015964	99567929	98454501	18	31744											
HTR3E	285242	genome.wustl.edu	37	chr3	183818349	183818349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccactgctctgaattcagtGtttaatagaaagcccttccg	10	12	7	12	1	2	2	1	1	1	1	3	2	3	2	3	0	2	2	3	0	4	5			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr3:183818349G>A	ENST00000415389.2	+	2	610	c.144G>A	c.(142-144)gtG>gtA	p.V48V	HTR3E_ENST00000335304.2_Silent_p.V63V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Silent_p.V63V|HTR3E_ENST00000436361.2_Silent_p.V63V|HTR3E_ENST00000425359.2_Silent_p.V48V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	48					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)	TGAATTCAGTGTTTAATAGAA	0.532																																					Melanoma(7;227 727 6634 44770)												0													180	176	177					3																	183818349		2203	4300	6503	SO:0001819	synonymous_variant	0			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.144G>A	3.37:g.183818349G>A			A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.V63	ENST00000415389.2	37	c.189	CCDS58868.1	3																																																																																			HTR3E	-	superfamily_Neur_chan_lig-bd	ENSG00000186038		0.532	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	-	0	78	0	G	NM_182589		183818349	1	tier1	-	no_errors	ENST00000335304	ensembl	human	known	74_37	silent	16.97	137	28	SNP	0.143	A	A	183818349	G	A	183818349	2	1	121	1	0	0	0	0	0	0	0	1	7475	1364	48	3		3	HTR3E	3	183818349	Silent	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	84250420	183818349	14204081	19	31745											
MOBKL1A	92597	genome.wustl.edu	37	chr4	71840984	71840984	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagttggatgatgagacGttatttccatcaaaaattgg	13	12	10	6	1	1	2	1	2	0	1	2	5	2	3	2	2	0	2	2	2	3	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr4:71840984G>T	ENST00000309395.2	+	4	591	c.390G>T	c.(388-390)acG>acT	p.T130T	MOB1B_ENST00000396051.2_Silent_p.T135T|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	130					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)										ATGATGAGACGTTATTTCCAT	0.348																																																	0													95	98	97					4																	71840984		2203	4300	6503	SO:0001819	synonymous_variant	0			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.390G>T	4.37:g.71840984G>T			B2R8U6|B4DRY3|Q8IY23	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.T130	ENST00000309395.2	37	c.390	CCDS34002.1	4																																																																																			MOB1B	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000173542		0.348	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1B	HGNC	protein_coding	OTTHUMT00000362634.1		0	48	0	G	NM_173468		71840984	1			no_errors	ENST00000309395	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.183	T	T	71840984	G	T	71840984	2	4	121	1	0	0	0	0	0	0	0	1	9720	1132	40	2		2	MOBKL1A	4	71840984	Silent	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09		71840984	119313292	20	31746											
EPB41L4A	64097	genome.wustl.edu	37	chr5	111540178	111540178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgatcactgggagaattgtAgagtccactggagagaaaga	14	7	14	6	1	1	4	1	0	0	4	2	8	2	5	1	2	0	1	1	2	3	2			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr5:111540178A>G	ENST00000261486.5	-	15	1546	c.1270T>C	c.(1270-1272)Tac>Cac	p.Y424H	EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000505825.1_RNA|CTC-459M5.2_ENST00000506875.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	424						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)		GGAGAATTGTAGAGTCCACTG	0.507																																																	0													126	125	125					5																	111540178		1916	4135	6051	SO:0001583	missense	0			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.1270T>C	5.37:g.111540178A>G	ENSP00000261486:p.Tyr424His		A4FUI6	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.Y424H	ENST00000261486.5	37	c.1270	CCDS43350.1	5	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535636	0.85812	.	.	ENSG00000129595	ENST00000261486	D	0.82984	-1.67	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.90041	0.6890	M	0.71581	2.175	0.38182	D	0.939654	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.919	D	0.91505	0.5222	10	0.54805	T	0.06	.	14.0175	0.64533	1.0:0.0:0.0:0.0	.	424;51	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	H	424	ENSP00000261486:Y424H	ENSP00000261486:Y424H	Y	-	1	0	EPB41L4A	111568077	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.098000	0.71458	2.291000	0.77112	0.533000	0.62120	TAC	EPB41L4A	-	NULL	ENSG00000129595		0.507	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L4A	HGNC	protein_coding	OTTHUMT00000370969.1	-	0	52	0	A			111540178	-1	tier1	-	no_errors	ENST00000261486	ensembl	human	known	74_37	missense	44.93	38	31	SNP	1.000	G	G	111540178	A	G	111540178	3	3	121	1	0	0	0	0	1	0	0	0	5171	420	15	4	826	4	EPB41L4A	5	111540178	Missense_Mutation	SNP	A	TCGA-LN-A5U5-01A-21D-A28B-09		111540178	69375082	21	31747											
KCNN2	3781	genome.wustl.edu	37	chr5	113698694	113698694	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctaagcccgagcacaaCaactccaacaacctggcgct	12	6	8	15	2	1	0	0	0	1	0	2	1	2	0	3	1	6	2	3	1	5	1			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr5:113698694C>G	ENST00000512097.3	+	2	1240	c.222C>G	c.(220-222)aaC>aaG	p.N74K	KCNN2_ENST00000264773.3_Missense_Mutation_p.N74K			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	74					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.N75_N78delNSNN(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CCGAGCACAACAACTCCAACA	0.711																																																	1	Deletion - In frame(1)	kidney(1)											26	24	25					5																	113698694		2191	4287	6478	SO:0001583	missense	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.222C>G	5.37:g.113698694C>G	ENSP00000427120:p.Asn74Lys		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.N74K	ENST00000512097.3	37	c.222	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562893	0.45694	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98345	-4.88;-4.88	5.58	4.71	0.59529	.	0.000000	0.64402	D	0.000004	D	0.95258	0.8462	L	0.47716	1.5	0.80722	D	1	P	0.41313	0.745	B	0.33454	0.164	D	0.94386	0.7609	10	0.17369	T	0.5	.	14.4201	0.67177	0.0:0.9275:0.0:0.0725	.	74	Q9H2S1	KCNN2_HUMAN	K	74	ENSP00000427120:N74K;ENSP00000264773:N74K	ENSP00000264773:N74K	N	+	3	2	KCNN2	113726593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.231000	0.32624	2.624000	0.88883	0.655000	0.94253	AAC	KCNN2	-	NULL	ENSG00000080709		0.711	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2	-	0	41	0	C	NM_021614		113698694	1	tier1	-	no_errors	ENST00000264773	ensembl	human	known	74_37	missense	36.00	32	18	SNP	1.000	G	G	113698694	C	G	113698694	3	3	121	1	0	0	0	0	1	0	0	0	8106	477	17	5	224	5	KCNN2	5	113698694	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	2158516	113698694	67216566	22	31748											
TNIP1	10318	genome.wustl.edu	37	chr5	150443229	150443229	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggagaaggtggtgggagCagctcgttgtccttcactag	8	9	17	7	1	1	1	1	0	0	1	3	4	2	2	1	4	2	3	1	4	2	3			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr5:150443229C>A	ENST00000389378.2	-	3	804	c.216G>T	c.(214-216)ctG>ctT	p.L72L	TNIP1_ENST00000521591.1_Silent_p.L72L|TNIP1_ENST00000518977.1_Silent_p.L72L|TNIP1_ENST00000520931.1_Silent_p.L19L|TNIP1_ENST00000523338.1_Silent_p.L72L|TNIP1_ENST00000523200.1_Silent_p.L72L|TNIP1_ENST00000522226.1_Silent_p.L72L|TNIP1_ENST00000315050.7_Silent_p.L72L|TNIP1_ENST00000524280.1_Silent_p.L72L	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	72					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)			GTGGTGGGAGCAGCTCGTTGT	0.577																																																	0													105	109	108					5																	150443229		2203	4300	6503	SO:0001819	synonymous_variant	0			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.216G>T	5.37:g.150443229C>A			A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	superfamily_ARM-type_fold	p.L72	ENST00000389378.2	37	c.216	CCDS34280.1	5																																																																																			TNIP1	-	NULL	ENSG00000145901		0.577	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP1	HGNC	protein_coding	OTTHUMT00000374914.1	-	0	94	0	C	NM_006058		150443229	-1	tier1	-	no_errors	ENST00000315050	ensembl	human	known	74_37	silent	39.82	68	45	SNP	0.006	A	A	150443229	C	A	150443229	2	1	121	1	0	0	0	0	0	0	0	1	16361	697	25	3		3	TNIP1	5	150443229	Silent	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	36744535	150443229	30472031	23	31749											
KIAA0319	9856	genome.wustl.edu	37	chr6	24566850	24566850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggactctggccatccCggatccacagataggacaca	10	7	10	14	1	1	1	0	0	1	1	3	4	3	4	3	4	1	1	3	4	1	1			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr6:24566850C>T	ENST00000378214.3	-	14	2791	c.2267G>A	c.(2266-2268)cGg>cAg	p.R756Q	KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756Q|KIAA0319_ENST00000535378.1_Missense_Mutation_p.R747Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756Q	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	756	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463																																																	0													99	96	97					6																	24566850		2203	4300	6503	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2267G>A	6.37:g.24566850C>T	ENSP00000367459:p.Arg756Gln		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.R756Q	ENST00000378214.3	37	c.2267	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875459	0.91664	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	4.01	4.01	0.46588	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (2);	0.000000	0.64402	D	0.000005	T	0.19208	0.0461	L	0.37697	1.125	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.02837	-1.1104	10	0.54805	T	0.06	-18.6805	16.3188	0.82938	0.0:1.0:0.0:0.0	.	756;747;756	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Q	756;747;711;756;756	ENSP00000439700:R756Q;ENSP00000442403:R747Q;ENSP00000401086:R711Q;ENSP00000367459:R756Q;ENSP00000437656:R756Q	ENSP00000367459:R756Q	R	-	2	0	KIAA0319	24674829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.679000	0.61649	2.055000	0.61198	0.591000	0.81541	CGG	KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom	ENSG00000137261		0.463	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	-	0	15	0	C	NM_014809		24566850	-1	tier1	-	no_errors	ENST00000378214	ensembl	human	known	74_37	missense	47.62	11	10	SNP	1.000	T	T	24566850	C	T	24566850	3	4	121	1	0	0	0	0	1	0	0	0	8195	652	23	1	983	1	KIAA0319	6	24566850	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09		24566850	146548217	24	31750											
HIST1H2BH	8345	genome.wustl.edu	37	chr6	26252252	26252252	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtcaccaagtacaccagctCcaaataaatggacgcatgtt	14	8	7	12	2	1	0	1	0	0	0	2	1	2	1	3	1	2	4	3	1	5	3			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr6:26252252C>G	ENST00000356350.2	+	1	374	c.374C>G	c.(373-375)tCc>tGc	p.S125C	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	125					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						TACACCAGCTCCAAATAAATG	0.522																																																	0													54	57	56					6																	26252252		2203	4300	6503	SO:0001583	missense	0			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"Histones / Replication-dependent"	4755	protein-coding gene	gene with protein product		602806	"H2B histone family, member J", "histone 1, H2bh"	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.374C>G	6.37:g.26252252C>G	ENSP00000348706:p.Ser125Cys		B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S125C	ENST00000356350.2	37	c.374	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	17.34	3.364988	0.61513	.	.	ENSG00000197459	ENST00000356350	T	0.26810	1.71	4.65	4.65	0.58169	Histone-fold (2);	0.000000	0.40554	U	0.001065	T	0.53690	0.1812	M	0.92604	3.325	0.39241	D	0.963862	D	0.71674	0.998	D	0.67231	0.95	T	0.67703	-0.5602	10	0.87932	D	0	.	17.3874	0.87420	0.0:1.0:0.0:0.0	.	125	Q93079	H2B1H_HUMAN	C	125	ENSP00000348706:S125C	ENSP00000348706:S125C	S	+	2	0	HIST1H2BH	26360231	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	7.573000	0.82421	2.513000	0.84729	0.591000	0.81541	TCC	HIST1H2BH	-	superfamily_Histone-fold	ENSG00000197459		0.522	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1	-	0	78	0	C	NM_003524		26252252	1	tier1	-	no_errors	ENST00000356350	ensembl	human	known	74_37	missense	51.22	20	21	SNP	1.000	G	G	26252252	C	G	26252252	3	3	121	1	0	0	0	0	1	0	0	0	7174	855	30	5	376	5	HIST1H2BH	6	26252252	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	1685402	26252252	144862815	25	31751											
ENPP3	5169	genome.wustl.edu	37	chr6	132054857	132054857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcacccacggcttcctctatCctcctggttagtagaactct	7	13	6	15	1	3	1	1	0	2	1	6	1	6	1	4	2	1	3	4	2	4	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr6:132054857C>G	ENST00000414305.1	+	22	2411	c.2083C>G	c.(2083-2085)Cct>Gct	p.P695A	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Missense_Mutation_p.P695A			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	695	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTTCCTCTATCCTCCTGGTTA	0.463																																																	0													97	95	96					6																	132054857		2203	4300	6503	SO:0001583	missense	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2083C>G	6.37:g.132054857C>G	ENSP00000406261:p.Pro695Ala		Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.P695A	ENST00000414305.1	37	c.2083	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978154	0.74360	.	.	ENSG00000154269	ENST00000414305;ENST00000357639	T;T	0.79454	-1.27;-1.27	5.91	5.91	0.95273	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.64402	D	0.000001	D	0.90086	0.6903	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90712	0.4628	10	0.72032	D	0.01	-17.4505	20.2956	0.98549	0.0:1.0:0.0:0.0	.	695	O14638	ENPP3_HUMAN	A	695	ENSP00000406261:P695A;ENSP00000350265:P695A	ENSP00000350265:P695A	P	+	1	0	ENPP3	132096550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.492000	0.73654	2.805000	0.96524	0.460000	0.39030	CCT	ENPP3	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	ENSG00000154269		0.463	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	-	0	31	0	C			132054857	1	tier1	-	no_errors	ENST00000357639	ensembl	human	known	74_37	missense	27.45	37	14	SNP	1.000	G	G	132054857	C	G	132054857	3	3	121	1	0	0	0	0	1	0	0	0	5147	855	30	5	2165	5	ENPP3	6	132054857	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	105802605	132054857	39060210	26	31752											
SYNE1	23345	genome.wustl.edu	37	chr6	152614873	152614873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcatagagtgtgcgctgCttctcactgatctacaccag	8	12	9	12	1	3	2	2	1	2	1	4	2	3	2	1	0	3	3	1	0	2	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr6:152614873C>G	ENST00000367255.5	-	95	18463	c.17862G>C	c.(17860-17862)aaG>aaC	p.K5954N	SYNE1_ENST00000341594.5_Missense_Mutation_p.K5566N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K5954N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K5883N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5883N|SYNE1_ENST00000356820.4_Missense_Mutation_p.K478N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5954					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)		GTGTGCGCTGCTTCTCACTGA	0.468										HNSCC(10;0.0054)																																							0													108	103	104					6																	152614873		2203	4300	6503	SO:0001583	missense	0			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.17862G>C	6.37:g.152614873C>G	ENSP00000356224:p.Lys5954Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K5954N	ENST00000367255.5	37	c.17862	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757671	0.69648	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.37	3.57	0.40892	.	0.000000	0.56097	D	0.000030	T	0.43366	0.1244	M	0.64997	1.995	0.54753	D	0.999986	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	0.45804	-0.9236	10	0.87932	D	0	.	10.4264	0.44380	0.0:0.778:0.0:0.222	.	369;5954;5954;5883	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	5954;5883;5954;5883;5566;478;129;176	ENSP00000356224:K5954N;ENSP00000396024:K5883N;ENSP00000265368:K5954N;ENSP00000390975:K5883N;ENSP00000341887:K5566N;ENSP00000349276:K478N;ENSP00000437411:K129N	ENSP00000265368:K5954N	K	-	3	2	SYNE1	152656566	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.523000	0.35932	0.605000	0.29947	0.655000	0.94253	AAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	38	0	C	NM_182961		152614873	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	G	G	152614873	C	G	152614873	3	3	121	1	0	0	0	0	1	0	0	0	15492	796	28	5	8812	5	SYNE1	6	152614873	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	20560016	152614873	18500194	27	31753											
CYTH3	9265	genome.wustl.edu	37	chr7	6210543	6210543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gttctgccgtgggcttgtcaCgcacgttgtggttgtggagg	3	13	17	8	3	2	0	1	0	1	0	2	1	2	1	1	4	1	5	1	4	0	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr7:6210543C>T	ENST00000350796.3	-	8	765	c.629G>A	c.(628-630)cGt>cAt	p.R210H	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.R125H	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	210					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						GGGCTTGTCACGCACGTTGTG	0.637																																																	0													155	112	127					7																	6210543		2203	4300	6503	SO:0001583	missense	0			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.629G>A	7.37:g.6210543C>T	ENSP00000297044:p.Arg210His		A4D2N8	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.R210H	ENST00000350796.3	37	c.629	CCDS5346.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.393179	0.96009	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.55413	0.52;0.52	5.48	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	M	0.90145	3.09	0.58432	D	0.999999	P;P	0.49090	0.859;0.919	P;B	0.53102	0.718;0.295	T	0.78650	-0.2121	10	0.87932	D	0	.	14.1699	0.65503	0.0:0.9276:0.0:0.0724	.	125;210	B7Z2V9;O43739-2	.;.	H	210;125	ENSP00000297044:R210H;ENSP00000379967:R125H	ENSP00000297044:R210H	R	-	2	0	CYTH3	6177068	1.000000	0.71417	0.839000	0.33178	0.992000	0.81027	4.797000	0.62503	1.322000	0.45245	0.655000	0.94253	CGT	CYTH3	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000008256		0.637	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	-	0	80	0	C	NM_004227		6210543	-1	tier1	-	no_errors	ENST00000350796	ensembl	human	known	74_37	missense	29.63	57	24	SNP	0.998	T	T	6210543	C	T	6210543	3	4	121	1	0	0	0	0	1	0	0	0	4214	536	19	1	594	1	CYTH3	7	6210543	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09		6210543	152928120	28	31754											
POU6F2	11281	genome.wustl.edu	37	chr7	39247015	39247015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgacggcacagcagttaGcttctgctgtggccggcgtg	5	11	14	11	3	2	1	0	1	2	0	2	1	2	1	1	3	3	5	1	3	1	3			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr7:39247015G>A	ENST00000403058.1	+	5	461	c.307G>A	c.(307-309)Gct>Act	p.A103T	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.A95T|POU6F2_ENST00000518318.2_Missense_Mutation_p.A103T	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	103					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						ACAGCAGTTAGCTTCTGCTGT	0.557																																																	0													88	92	91					7																	39247015		2203	4300	6503	SO:0001583	missense	0			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.307G>A	7.37:g.39247015G>A	ENSP00000384004:p.Ala103Thr		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A103T	ENST00000403058.1	37	c.307	CCDS34620.2	7	.	.	.	.	.	.	.	.	.	.	G	36	5.642877	0.96704	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	D;D	0.89875	-2.58;-2.54	5.87	5.87	0.94306	.	0.600530	0.16919	N	0.194175	D	0.93103	0.7804	L	0.44542	1.39	0.53005	D	0.999968	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.989	D	0.92695	0.6170	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	103;103	P78424-2;P78424	.;PO6F2_HUMAN	T	103;103;104	ENSP00000384004:A103T;ENSP00000430514:A103T	ENSP00000384004:A103T	A	+	1	0	POU6F2	39213540	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GCT	POU6F2	-	NULL	ENSG00000106536		0.557	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	-	0	30	0	G	NM_007252		39247015	1	tier1	-	no_errors	ENST00000403058	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	A	A	39247015	G	A	39247015	3	1	121	1	0	0	0	0	1	0	0	0	12324	971	34	3	321	3	POU6F2	7	39247015	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	33036472	39247015	119891648	29	31755											
PNOC	5368	genome.wustl.edu	37	chr8	28196578	28196578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgcatcctcgagtgtgaaGagaaggtcttccccagcccc	8	9	11	13	1	1	2	0	1	1	1	4	4	3	2	5	1	2	1	5	1	2	1			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr8:28196578G>A	ENST00000301908.3	+	3	356	c.148G>A	c.(148-150)Gag>Aag	p.E50K	PNOC_ENST00000522209.1_5'UTR|RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	50					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGAGTGTGAAGAGAAGGTCTT	0.612																																																	0													80	81	81					8																	28196578		2203	4300	6503	SO:0001583	missense	0				CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"Endogenous ligands"	9163	protein-coding gene	gene with protein product	"nocistatin"	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.148G>A	8.37:g.28196578G>A	ENSP00000301908:p.Glu50Lys		B7Z749|Q6FH16	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept	p.E50K	ENST00000301908.3	37	c.148	CCDS6066.1	8	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424029	0.62733	.	.	ENSG00000168081	ENST00000518479;ENST00000301908	T;T	0.78481	0.83;-1.18	4.88	2.04	0.26737	.	0.439500	0.27509	N	0.019049	T	0.63698	0.2533	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52305	-0.8593	10	0.36615	T	0.2	-4.3497	6.3866	0.21563	0.1725:0.1514:0.6761:0.0	.	50	Q13519	PNOC_HUMAN	K	50	ENSP00000428059:E50K;ENSP00000301908:E50K	ENSP00000301908:E50K	E	+	1	0	PNOC	28252497	0.999000	0.42202	0.982000	0.44146	0.978000	0.69477	2.942000	0.49018	0.235000	0.21160	0.655000	0.94253	GAG	PNOC	-	pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept	ENSG00000168081		0.612	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNOC	HGNC	protein_coding	OTTHUMT00000219964.2	-	0	46	0	G	NM_006228		28196578	1	tier1	-	no_errors	ENST00000301908	ensembl	human	known	74_37	missense	65.52	10	19	SNP	0.996	A	A	28196578	G	A	28196578	3	1	121	1	0	0	0	0	1	0	0	0	12201	943	33	3	154	3	PNOC	8	28196578	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09		28196578	118167444	30	31756											
UNC5D	137970	genome.wustl.edu	37	chr8	35425616	35425616	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttatctctcccaccatcagGtttgaaggtccgcgaagtgt	8	12	9	12	2	2	1	1	1	1	0	5	2	4	1	3	2	0	1	3	2	3	2			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr8:35425616G>T	ENST00000404895.2	+	3	651	c.323G>T	c.(322-324)gGt>gTt	p.G108V	UNC5D_ENST00000416672.1_Splice_Site_p.G108V|UNC5D_ENST00000453357.2_Splice_Site_p.G103V|UNC5D_ENST00000420357.1_Splice_Site_p.G108V|UNC5D_ENST00000287272.2_Splice_Site_p.G108V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	108	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCACCATCAGGTTTGAAGGTC	0.453																																																	0													162	166	165					8																	35425616		2203	4300	6503	SO:0001630	splice_region_variant	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.323-1G>T	8.37:g.35425616G>T			Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.G108V	ENST00000404895.2	37	c.323	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354395	0.61293	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.16	5.16	0.70880	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76769	-0.2837	9	.	.	.	.	19.0227	0.92921	0.0:0.0:1.0:0.0	.	103;108	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	V	108;108;108;108;103	ENSP00000385143:G108V;ENSP00000392739:G108V;ENSP00000287272:G108V;ENSP00000412652:G108V;ENSP00000394303:G103V	.	G	+	2	0	UNC5D	35545158	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	9.775000	0.98995	2.559000	0.86315	0.655000	0.94253	GGT	UNC5D	-	NULL	ENSG00000156687		0.453	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0	60	0	G		Missense_Mutation	35425616	1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	missense	43.40	30	23	SNP	1.000	T	T	35425616	G	T	35425616	5	4	121	1	0	0	0	0	0	0	1	0	17044	1275	44	3	333	3	UNC5D	8	35425616	Splice_Site	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	7229038	35425616	110938406	31	31757											
RAB2A	5862	genome.wustl.edu	37	chr8	61496839	61496839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggagctttactagtttacGatattacacggtgagaactt	12	13	9	7	2	0	1	0	1	0	1	0	4	0	2	0	2	5	2	0	2	6	8			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr8:61496839G>A	ENST00000262646.7	+	4	610	c.259G>A	c.(259-261)Gat>Aat	p.D87N	RAB2A_ENST00000531289.1_Missense_Mutation_p.D63N|RAB2A_ENST00000529579.1_Missense_Mutation_p.D87N|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	87					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D87Y(1)		endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			ACTAGTTTACGATATTACACG	0.378																																																	1	Substitution - Missense(1)	lung(1)											135	131	132					8																	61496839		2203	4300	6503	SO:0001583	missense	0				CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"RAB, member RAS oncogene"	9763	protein-coding gene	gene with protein product		179509	"RAB2, member RAS oncogene family"	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.259G>A	8.37:g.61496839G>A	ENSP00000262646:p.Asp87Asn		B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D87N	ENST00000262646.7	37	c.259	CCDS6175.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.623799	0.96660	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000529579;ENST00000543829	D;D;D	0.86769	-2.17;-2.17;-2.17	5.84	5.84	0.93424	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95743	0.8615	H	0.94264	3.515	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.96232	0.9169	10	0.87932	D	0	.	20.1322	0.98003	0.0:0.0:1.0:0.0	.	63;87	B4DMQ5;P61019	.;RAB2A_HUMAN	N	87;63;87;41	ENSP00000262646:D87N;ENSP00000431846:D63N;ENSP00000431589:D87N	ENSP00000262646:D87N	D	+	1	0	RAB2A	61659393	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.869000	0.99810	2.765000	0.95021	0.484000	0.47621	GAT	RAB2A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000104388		0.378	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2A	HGNC	protein_coding	OTTHUMT00000259145.2	-	0	66	0	G			61496839	1	tier1	-	no_errors	ENST00000262646	ensembl	human	known	74_37	missense	21.82	43	12	SNP	1.000	A	A	61496839	G	A	61496839	3	1	121	1	0	0	0	0	1	0	0	0	12962	1058	37	1	273	1	RAB2A	8	61496839	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	26071223	61496839	84867183	32	31758											
FBXO43	286151	genome.wustl.edu	37	chr8	101146049	101146049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaggcgttttaaattcCgcttactctgggcacttcct	7	15	8	11	2	2	1	1	0	1	1	4	1	4	1	2	2	1	3	2	2	3	6	rs202056051		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr8:101146049C>T	ENST00000428847.2	-	5	2424	c.2108G>A	c.(2107-2109)cGg>cAg	p.R703Q		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	703					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTTTAAATTCCGCTTACTCTG	0.383																																																	0								C	GLN/ARG	0,3704		0,0,1852	109	101	103		2108	1.3	1	8		103	1,8173		0,1,4086	yes	missense	FBXO43	NM_001029860.3	43	0,1,5938	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging	703/709	101146049	1,11877	1852	4087	5939	SO:0001583	missense	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.2108G>A	8.37:g.101146049C>T	ENSP00000403293:p.Arg703Gln			Missense_Mutation	SNP	pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC	p.R703Q	ENST00000428847.2	37	c.2108	CCDS47904.1	8	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930967	0.52866	0.0	1.22E-4	ENSG00000156509	ENST00000428847	T	0.53857	0.6	5.15	1.32	0.21799	.	0.218442	0.37577	N	0.002023	T	0.36663	0.0975	L	0.45581	1.43	0.42072	D	0.991215	P	0.36438	0.553	B	0.20955	0.032	T	0.23226	-1.0194	10	0.59425	D	0.04	-1.0226	9.231	0.37437	0.0:0.7067:0.0:0.2933	.	703	Q4G163	FBX43_HUMAN	Q	703	ENSP00000403293:R703Q	ENSP00000403293:R703Q	R	-	2	0	FBXO43	101215225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.858000	0.48356	0.287000	0.22375	0.655000	0.94253	CGG	FBXO43	-	NULL	ENSG00000156509		0.383	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	-	0	38	0	C	XM_209918		101146049	-1	tier1	rs202056051	no_errors	ENST00000428847	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	T	T	101146049	C	T	101146049	3	4	121	1	0	0	0	0	1	0	0	0	5774	652	23	1	22	1	FBXO43	8	101146049	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	39649210	101146049	45217973	33	31759											
FOXD4	2298	genome.wustl.edu	37	chr9	117909	117909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcgggccgccgccgccctCgatgtgctctcggggaagcg	3	6	16	16	7	1	0	0	0	1	0	4	2	1	1	4	3	2	2	4	3	1	0			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:117909C>T	ENST00000382500.2	-	1	508	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	71					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)		CCGCCGCCCTCGATGTGCTCT	0.716																																																	0													37	61	53					9																	117909		2192	4287	6479	SO:0001583	missense	0			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.211G>A	9.37:g.117909C>T	ENSP00000371940:p.Glu71Lys		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E71K	ENST00000382500.2	37	c.211	CCDS34975.1	9	.	.	.	.	.	.	.	.	.	.	.	13.31	2.199910	0.38905	.	.	ENSG00000170122	ENST00000382500	D	0.95171	-3.63	2.14	0.0349	0.14185	.	0.209202	0.22410	U	0.060427	T	0.81489	0.4833	L	0.27053	0.805	0.09310	N	1	P	0.48998	0.918	B	0.29862	0.108	T	0.77965	-0.2389	10	0.10377	T	0.69	.	4.0977	0.09998	0.2315:0.6137:0.0:0.1548	.	71	Q12950	FOXD4_HUMAN	K	71	ENSP00000371940:E71K	ENSP00000371940:E71K	E	-	1	0	FOXD4	107909	0.000000	0.05858	0.002000	0.10522	0.120000	0.20174	-0.806000	0.04525	0.201000	0.20466	0.291000	0.19559	GAG	FOXD4	-	NULL	ENSG00000170122		0.716	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4	HGNC	protein_coding	OTTHUMT00000055433.1	-	0	238	0	C	NM_207305		117909	-1	tier1	-	no_errors	ENST00000382500	ensembl	human	known	74_37	missense	9.28	176	18	SNP	0.010	T	T	117909	C	T	117909	3	4	121	1	0	0	0	0	1	0	0	0	6021	893	31	1	1112	1	FOXD4	9	117909	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09		117909	141095522	34	31760											
MAMDC2	256691	genome.wustl.edu	37	chr9	72783711	72783711	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggaagctgctcatcttcaGgtaagacggcaatcatttta	11	12	10	8	1	4	1	3	0	1	1	4	2	4	2	0	3	2	4	0	3	4	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:72783711G>C	ENST00000377182.4	+	10	2115	c.1498G>C	c.(1498-1500)Gag>Cag	p.E500Q	MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000377178.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	500					peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTCATCTTCAGGTAAGACGGC	0.428																																																	0													138	132	134					9																	72783711		2203	4300	6503	SO:0001630	splice_region_variant	0			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1498+1G>C	9.37:g.72783711G>C			Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.E500Q	ENST00000377182.4	37	c.1498	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821205	0.50633	.	.	ENSG00000165072	ENST00000377182	T	0.02737	4.18	5.8	5.8	0.92144	.	0.455087	0.26746	N	0.022718	T	0.04363	0.0120	L	0.44542	1.39	0.37028	D	0.896562	B	0.28208	0.203	B	0.27262	0.078	T	0.51585	-0.8687	10	0.13853	T	0.58	-19.0517	20.0589	0.97667	0.0:0.0:1.0:0.0	.	500	Q7Z304	MAMC2_HUMAN	Q	500	ENSP00000366387:E500Q	ENSP00000366387:E500Q	E	+	1	0	MAMDC2	71973531	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.233000	0.78125	2.732000	0.93576	0.650000	0.86243	GAG	MAMDC2	-	NULL	ENSG00000165072		0.428	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	-	0	33	0	G	NM_153267	Missense_Mutation	72783711	1	tier1	-	no_errors	ENST00000377182	ensembl	human	known	74_37	missense	32.65	33	16	SNP	1.000	C	C	72783711	G	C	72783711	5	2	121	1	0	0	0	0	0	0	1	0	9241	1014	35	5	1536	5	MAMDC2	9	72783711	Splice_Site	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	72665802	72783711	68429720	35	31761											
TLE1	7088	genome.wustl.edu	37	chr9	84268949	84268949	+	Silent	SNP	A	A	C	1	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	ttcaatctcttggcgatttcAgtctataaagacaaagccac	13	12	6	10	1	4	1	2	0	2	1	5	2	4	1	1	1	1	0	1	1	5	5			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:84268949A>C	ENST00000376499.3	-	5	1301	c.237T>G	c.(235-237)acT>acG	p.T79T	TLE1_ENST00000376463.1_Silent_p.T23T|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	79	Gln-rich.				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						TGGCGATTTCAGTCTATAAAG	0.378																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												0													115	106	109					9																	84268949		2203	4300	6503	SO:0001819	synonymous_variant	0				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.237T>G	9.37:g.84268949A>C			A8K495|Q5T3G4|Q969V9	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.T79	ENST00000376499.3	37	c.237	CCDS6661.1	9																																																																																			TLE1	-	pfam_Groucho/TLE_N	ENSG00000196781		0.378	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	HGNC	protein_coding	OTTHUMT00000055407.1	-	0	27	0	A	NM_005077		84268949	-1	tier1	-	no_errors	ENST00000376499	ensembl	human	known	74_37	silent	23.81	16	5	SNP	0.990	C	C	84268949	A	C	84268949	2	2	121	1	0	0	0	0	0	0	0	1	15985	175	7	4		4	TLE1	9	84268949	Silent	SNP	A	TCGA-LN-A5U5-01A-21D-A28B-09	11485238	84268949	56944482	36	31762											
FRMD3	257019	genome.wustl.edu	37	chr9	85950526	85950526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgtaattctcaggatgCtcatcaggatcgtaatcacc	11	12	8	10	1	4	1	4	1	1	0	6	3	4	3	1	2	1	3	1	2	2	3			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:85950526C>A	ENST00000304195.3	-	6	707	c.501G>T	c.(499-501)gaG>gaT	p.E167D	FRMD3_ENST00000376438.1_Missense_Mutation_p.E167D	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	167	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCTCAGGATGCTCATCAGGAT	0.368																																																	0													103	90	94					9																	85950526		1856	4098	5954	SO:0001583	missense	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.501G>T	9.37:g.85950526C>A	ENSP00000303508:p.Glu167Asp		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.E167D	ENST00000304195.3	37	c.501	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023069	0.35701	.	.	ENSG00000172159	ENST00000376438;ENST00000304195;ENST00000376422	T;T	0.78364	-1.17;-1.17	5.16	0.13	0.14746	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	0.63510	0.2517	L	0.39147	1.195	0.58432	D	0.999998	B;B	0.13145	0.005;0.007	B;B	0.15484	0.013;0.008	T	0.50285	-0.8846	10	0.39692	T	0.17	.	6.242	0.20795	0.0:0.423:0.1273:0.4497	.	167;167	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	D	167;167;63	ENSP00000365621:E167D;ENSP00000303508:E167D	ENSP00000303508:E167D	E	-	3	2	FRMD3	85140346	0.958000	0.32768	0.998000	0.56505	0.986000	0.74619	0.228000	0.17814	0.041000	0.15688	-0.229000	0.12294	GAG	FRMD3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000172159		0.368	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1		0	21	0	C	NM_174938		85950526	-1			no_errors	ENST00000304195	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.999	A	A	85950526	C	A	85950526	3	1	121	1	0	0	0	0	1	0	0	0	6074	796	28	3	1328	3	FRMD3	9	85950526	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	1681577	85950526	55262905	37	31763											
C9orf98	158067	genome.wustl.edu	37	chr9	135702310	135702310	+	Missense_Mutation	SNP	T	T	C	0	1	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	gattttggggtaggagggaaTgaccctgacgatgttcctat	9	12	14	6	1	0	2	0	2	0	0	1	6	1	4	2	4	0	2	2	4	3	5			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:135702310T>C	ENST00000298545.3	-	8	1209	c.688A>G	c.(688-690)Att>Gtt	p.I230V	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	230	Adenylate kinase 1.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TAGGAGGGAATGACCCTGACG	0.532																																																	0													244	211	222					9																	135702310		2203	4300	6503	SO:0001583	missense	0			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.688A>G	9.37:g.135702310T>C	ENSP00000298545:p.Ile230Val		A8K821|Q8N9W9	Missense_Mutation	SNP	pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.I230V	ENST00000298545.3	37	c.688	CCDS6954.1	9	.	.	.	.	.	.	.	.	.	.	T	8.185	0.794667	0.16327	.	.	ENSG00000165695	ENST00000298545	T	0.78816	-1.21	5.34	-0.241	0.13043	.	0.913436	0.09445	N	0.801182	T	0.54367	0.1854	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.21151	0.033	T	0.35919	-0.9769	10	0.14252	T	0.57	-10.0822	4.2475	0.10679	0.269:0.0:0.1929:0.538	.	230	Q96MA6	KAD8_HUMAN	V	230	ENSP00000298545:I230V	ENSP00000298545:I230V	I	-	1	0	AK8	134692131	0.992000	0.36948	0.066000	0.19879	0.860000	0.49131	0.350000	0.20079	-0.100000	0.12241	0.374000	0.22700	ATT	AK8	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase	ENSG00000165695		0.532	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1	-	0	85	0	T	NM_152572		135702310	-1	tier1	-	no_errors	ENST00000298545	ensembl	human	known	74_37	missense	22.73	85	25	SNP	0.029	C	C	135702310	T	C	135702310	3	2	121	1	0	0	0	0	1	0	0	0	2516	1464	51	4	775	4	C9orf98	9	135702310	Missense_Mutation	SNP	T	TCGA-LN-A5U5-01A-21D-A28B-09	49751784	135702310	5511121	38	31764											
C9orf98	158067	genome.wustl.edu	37	chr9	135750508	135750508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccagtgctcaccattgtCgttgtctctatgcaagtgct	7	13	9	12	1	2	0	1	0	1	0	4	0	2	0	2	0	4	4	2	0	2	3	rs376201961		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:135750508C>T	ENST00000298545.3	-	2	684	c.163G>A	c.(163-165)Gac>Aac	p.D55N	C9orf9_ENST00000372136.3_5'Flank|AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	55					nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCACCATTGTCGTTGTCTCTA	0.587																																																	0								C	ASN/ASP	0,4406		0,0,2203	302	225	251		163	3.9	0	9		251	1,8599	1.2+/-3.3	0,1,4299	no	missense	AK8	NM_152572.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	55/480	135750508	1,13005	2203	4300	6503	SO:0001583	missense	0			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.163G>A	9.37:g.135750508C>T	ENSP00000298545:p.Asp55Asn		A8K821|Q8N9W9	Missense_Mutation	SNP	pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.D55N	ENST00000298545.3	37	c.163	CCDS6954.1	9	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361235	0.41801	0.0	1.16E-4	ENSG00000165695	ENST00000298545	T	0.67865	-0.29	4.77	3.87	0.44632	.	0.295885	0.32868	N	0.005547	T	0.63438	0.2511	M	0.64997	1.995	0.09310	N	1	B	0.27910	0.193	B	0.30943	0.122	T	0.60393	-0.7272	10	0.72032	D	0.01	-19.788	10.5141	0.44879	0.0:0.909:0.0:0.091	.	55	Q96MA6	KAD8_HUMAN	N	55	ENSP00000298545:D55N	ENSP00000298545:D55N	D	-	1	0	AK8	134740329	0.086000	0.21541	0.003000	0.11579	0.141000	0.21300	1.645000	0.37238	0.982000	0.38575	0.511000	0.50034	GAC	AK8	-	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	ENSG00000165695		0.587	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1	-	0	68	0	C	NM_152572		135750508	-1	tier1	-	no_errors	ENST00000298545	ensembl	human	known	74_37	missense	30.77	108	48	SNP	0.058	T	T	135750508	C	T	135750508	3	4	121	1	0	0	0	0	1	0	0	0	2516	884	31	1	1324	1	C9orf98	9	135750508	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	48198	135750508	5462923	39	31765											
EHMT1	79813	genome.wustl.edu	37	chr9	140657246	140657246	+	Missense_Mutation	SNP	A	A	C	1	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	cactggccaacaaccagtgcAtggctacagagagcgtggac	12	5	12	12	1	0	1	0	0	0	1	0	3	0	2	2	3	5	2	2	3	3	1			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:140657246A>C	ENST00000460843.1	+	10	1648	c.1621A>C	c.(1621-1623)Atg>Ctg	p.M541L	EHMT1_ENST00000334856.6_Missense_Mutation_p.M510L|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.M541L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	541					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAACCAGTGCATGGCTACAGA	0.567																																																	0													102	85	91					9																	140657246		2203	4300	6503	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1621A>C	9.37:g.140657246A>C	ENSP00000417980:p.Met541Leu		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.M541L	ENST00000460843.1	37	c.1621	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369264	0.61624	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.71103	1.49;0.71;-0.54	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	M	0.76328	2.33	0.58432	D	0.999999	B;P;P	0.42296	0.271;0.775;0.775	B;B;B	0.41236	0.103;0.268;0.351	T	0.77250	-0.2657	10	0.62326	D	0.03	.	14.822	0.70080	1.0:0.0:0.0:0.0	.	541;510;541	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	L	510;510;541;541	ENSP00000334476:M510L;ENSP00000417328:M541L;ENSP00000417980:M541L	ENSP00000334476:M510L	M	+	1	0	EHMT1	139777067	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	9.079000	0.94032	1.998000	0.58463	0.533000	0.62120	ATG	EHMT1	-	NULL	ENSG00000181090		0.567	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	-	0	66	0	A	NM_024757		140657246	1	tier1	-	no_errors	ENST00000460843	ensembl	human	known	74_37	missense	73.86	23	65	SNP	1.000	C	C	140657246	A	C	140657246	3	2	121	1	0	0	0	0	1	0	0	0	4997	217	8	4	1659	4	EHMT1	9	140657246	Missense_Mutation	SNP	A	TCGA-LN-A5U5-01A-21D-A28B-09	4906738	140657246	556185	40	31766											
OLAH	55301	genome.wustl.edu	37	chr10	15091715	15091715	+	Silent	SNP	C	C	A	0	0	0	1	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	tttccctggatgggaggtggCtccactcattttgccaaatg	7	13	11	10	0	1	0	1	0	0	0	3	2	3	2	3	4	1	1	3	4	1	3			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr10:15091715C>A	ENST00000378228.3	+	3	368	c.114C>A	c.(112-114)ggC>ggA	p.G38G	OLAH_ENST00000378217.3_Silent_p.G38G	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	38					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGGGAGGTGGCTCCACTCATT	0.373																																																	0													77	74	75					10																	15091715		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"thioesterase domain containing 1"	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.114C>A	10.37:g.15091715C>A			Q5VUB6|Q9NUW1	Silent	SNP	pfam_Thioesterase	p.G38	ENST00000378228.3	37	c.114	CCDS31152.1	10																																																																																			OLAH	-	NULL	ENSG00000152463		0.373	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLAH	HGNC	protein_coding	OTTHUMT00000046964.1	-	0	54	0	C	NM_018324		15091715	1	tier1	-	no_errors	ENST00000378217	ensembl	human	known	74_37	silent	48.65	19	18	SNP	0.992	A	A	15091715	C	A	15091715	2	1	121	1	0	0	0	0	0	0	0	1	10890	784	28	3		3	OLAH	10	15091715	Silent	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09		15091715	120443032	41	31767											
SLC18A3	6572	genome.wustl.edu	37	chr10	50820104	50820104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctcgggcccatagtggcaGgccacattgtgcactcgctg	6	8	13	14	3	0	0	0	0	0	0	2	0	0	0	2	3	1	4	2	3	1	2			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr10:50820104G>T	ENST00000374115.3	+	1	1758	c.1318G>T	c.(1318-1320)Ggc>Tgc	p.G440C	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	440					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CATAGTGGCAGGCCACATTGT	0.622																																																	0													52	38	43					10																	50820104		2203	4300	6503	SO:0001583	missense	0			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1318G>T	10.37:g.50820104G>T	ENSP00000363229:p.Gly440Cys		B2R7S1	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G440C	ENST00000374115.3	37	c.1318	CCDS7231.1	10	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453132	0.63290	.	.	ENSG00000187714	ENST00000374115	D	0.86694	-2.16	5.11	4.09	0.47781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.120240	0.56097	U	0.000024	D	0.92718	0.7685	M	0.86268	2.805	0.50813	D	0.999894	D	0.89917	1.0	D	0.87578	0.998	D	0.92782	0.6241	10	0.87932	D	0	0.179	8.8871	0.35409	0.2053:0.0:0.7947:0.0	.	440	Q16572	VACHT_HUMAN	C	440	ENSP00000363229:G440C	ENSP00000363229:G440C	G	+	1	0	SLC18A3	50490110	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.386000	0.59620	2.380000	0.81148	0.561000	0.74099	GGC	SLC18A3	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000187714		0.622	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	-	0	63	0	G	NM_003055		50820104	1	tier1	-	no_errors	ENST00000374115	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.999	T	T	50820104	G	T	50820104	3	4	121	1	0	0	0	0	1	0	0	0	14472	1000	35	3	1320	3	SLC18A3	10	50820104	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	35728389	50820104	84714643	42	31768											
POLR3A	11128	genome.wustl.edu	37	chr10	79784767	79784767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcagatgtttttcttcCggcacttgtcagagattttc	7	16	10	8	1	2	2	1	0	1	2	4	4	3	2	1	2	0	3	1	2	0	6			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr10:79784767C>T	ENST00000372371.3	-	4	589	c.452G>A	c.(451-453)cGg>cAg	p.R151Q		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	151					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)	p.R151L(1)		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)			GTTTTTCTTCCGGCACTTGTC	0.463																																																	1	Substitution - Missense(1)	lung(1)											135	124	128					10																	79784767		2203	4300	6503	SO:0001583	missense	0			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.452G>A	10.37:g.79784767C>T	ENSP00000361446:p.Arg151Gln		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.R151Q	ENST00000372371.3	37	c.452	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	c	23.1	4.381151	0.82792	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.21734	1.99	5.63	4.62	0.57501	RNA polymerase Rpb1, domain 1 (1);	0.116055	0.56097	D	0.000040	T	0.33990	0.0882	M	0.69463	2.115	0.41035	D	0.985186	D	0.58970	0.984	P	0.52957	0.714	T	0.03784	-1.1004	9	.	.	.	-19.9268	13.068	0.59045	0.0:0.8941:0.0:0.1059	.	151	O14802	RPC1_HUMAN	Q	151	ENSP00000361446:R151Q	.	R	-	2	0	POLR3A	79454773	1.000000	0.71417	0.976000	0.42696	0.632000	0.37999	4.566000	0.60843	2.656000	0.90262	0.550000	0.68814	CGG	POLR3A	-	pfam_RNA_pol_Rpb1_1	ENSG00000148606		0.463	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1		0	42	0	C	NM_007055		79784767	-1			no_errors	ENST00000372371	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.986	T	T	79784767	C	T	79784767	3	4	121	1	0	0	0	0	1	0	0	0	12267	652	23	1	3832	1	POLR3A	10	79784767	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	28964663	79784767	55749980	43	31769											
INSC	387755	genome.wustl.edu	37	chr11	15260470	15260470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttcctgcctaggggtcCagcttatcatgggcatgctg	5	13	12	11	0	1	0	1	0	0	0	3	0	3	0	3	3	4	4	3	3	2	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr11:15260470C>A	ENST00000379554.3	+	11	1430	c.1384C>A	c.(1384-1386)Cag>Aag	p.Q462K	INSC_ENST00000525218.1_Missense_Mutation_p.Q373K|INSC_ENST00000530161.1_Missense_Mutation_p.Q415K|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Missense_Mutation_p.Q415K|INSC_ENST00000424273.1_Missense_Mutation_p.Q373K|INSC_ENST00000379556.3_Missense_Mutation_p.Q415K	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	462					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						CCTAGGGGTCCAGCTTATCAT	0.587																																																	0													79	76	77					11																	15260470		2046	4195	6241	SO:0001583	missense	0			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.1384C>A	11.37:g.15260470C>A	ENSP00000368872:p.Gln462Lys		A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.Q462K	ENST00000379554.3	37	c.1384	CCDS41621.1	11	.	.	.	.	.	.	.	.	.	.	C	3.922	-0.017910	0.07681	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.27	4.35	0.52113	Armadillo-like helical (1);Armadillo-type fold (1);	0.308331	0.31323	N	0.007854	T	0.34542	0.0901	L	0.36672	1.1	0.32291	N	0.566267	P;B;P;P	0.40083	0.702;0.048;0.458;0.458	B;B;B;B	0.37650	0.255;0.023;0.137;0.137	T	0.37731	-0.9693	10	0.06099	T	0.92	-8.4788	14.8648	0.70406	0.0:0.5938:0.4062:0.0	.	450;373;415;462	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	K	462;415;373;415;415;373	ENSP00000368872:Q462K;ENSP00000368874:Q415K;ENSP00000389161:Q373K;ENSP00000435022:Q415K;ENSP00000436194:Q415K;ENSP00000436113:Q373K	ENSP00000368872:Q462K	Q	+	1	0	INSC	15217046	0.998000	0.40836	1.000000	0.80357	0.179000	0.23085	2.519000	0.45546	1.220000	0.43490	-0.165000	0.13383	CAG	INSC	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000188487		0.587	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSC	HGNC	protein_coding	OTTHUMT00000386590.1	-	0	56	0	C	NM_001031853		15260470	1	tier1	-	no_errors	ENST00000379554	ensembl	human	known	74_37	missense	6.93	94	7	SNP	1.000	A	A	15260470	C	A	15260470	3	1	121	1	0	0	0	0	1	0	0	0	7791	595	21	3	1426	3	INSC	11	15260470	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09		15260470	119746046	44	31770											
PIK3C2A	5286	genome.wustl.edu	37	chr11	17111318	17111318	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgcagtcagctgataccaTttaaccgtctctttgctcaa	9	12	7	13	2	3	1	2	1	1	0	4	1	3	1	3	0	4	3	3	0	3	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr11:17111318T>C	ENST00000265970.7	-	32	5027	c.5028A>G	c.(5026-5028)aaA>aaG	p.K1676K	PIK3C2A_ENST00000540361.1_Silent_p.K1296K|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1676					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						GCTGATACCATTTAACCGTCT	0.418																																																	0													159	151	154					11																	17111318		2200	4294	6494	SO:0001819	synonymous_variant	0			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.5028A>G	11.37:g.17111318T>C			B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.K1676	ENST00000265970.7	37	c.5028	CCDS7824.1	11																																																																																			PIK3C2A	-	superfamily_C2_dom,smart_C2_dom	ENSG00000011405		0.418	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	-	0	31	0	T	NM_002645		17111318	-1	tier1	-	no_errors	ENST00000265970	ensembl	human	known	74_37	silent	22.81	44	13	SNP	1.000	C	C	17111318	T	C	17111318	2	2	121	1	0	0	0	0	0	0	0	1	11948	1490	52	4		4	PIK3C2A	11	17111318	Silent	SNP	T	TCGA-LN-A5U5-01A-21D-A28B-09	1850848	17111318	117895198	45	31771											
TECTA	7007	genome.wustl.edu	37	chr11	120998865	120998865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcacacctttgacggcGcctcctacgccttcccctcc	4	10	7	20	3	0	1	0	1	0	0	3	1	3	1	7	1	3	2	7	1	1	3			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr11:120998865G>A	ENST00000392793.1	+	9	2450	c.2179G>A	c.(2179-2181)Gcc>Acc	p.A727T	TECTA_ENST00000264037.2_Missense_Mutation_p.A727T			O75443	TECTA_HUMAN	tectorin alpha	727	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTTTGACGGCGCCTCCTACGC	0.622																																																	0													96	84	88					11																	120998865		2203	4299	6502	SO:0001583	missense	0			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.2179G>A	11.37:g.120998865G>A	ENSP00000376543:p.Ala727Thr			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.A727T	ENST00000392793.1	37	c.2179	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	5.953	0.359827	0.11296	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59906	0.23;0.23	5.67	5.67	0.87782	von Willebrand factor, type D domain (3);	0.305688	0.36932	N	0.002330	T	0.26919	0.0659	N	0.00926	-1.1	0.26693	N	0.971319	B	0.12013	0.005	B	0.10450	0.005	T	0.05716	-1.0868	10	0.09590	T	0.72	.	14.9223	0.70847	0.0704:0.0:0.9296:0.0	.	727	O75443	TECTA_HUMAN	T	727	ENSP00000376543:A727T;ENSP00000264037:A727T	ENSP00000264037:A727T	A	+	1	0	TECTA	120504075	0.953000	0.32496	0.955000	0.39395	0.531000	0.34715	5.094000	0.64523	2.681000	0.91329	0.655000	0.94253	GCC	TECTA	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000109927		0.622	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0	35	0	G	NM_005422		120998865	1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.899	A	A	120998865	G	A	120998865	3	1	121	1	0	0	0	0	1	0	0	0	15794	1087	38	1	2209	1	TECTA	11	120998865	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	103887547	120998865	14007651	46	31772											
H3F3C	440093	genome.wustl.edu	37	chr12	31945089	31945089	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttacgagcagtctgcttGgttcgggccattttctttca	6	16	10	9	2	3	0	1	0	2	0	4	2	3	0	1	2	3	3	1	2	1	7			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr12:31945089G>C	ENST00000340398.3	-	1	86	c.12C>G	c.(10-12)acC>acG	p.T4T		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	4					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CAGTCTGCTTGGTTCGGGCCA	0.617										HNSCC(67;0.2)																																							0													46	45	46					12																	31945089		2202	4298	6500	SO:0001819	synonymous_variant	0			BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"Histones / Replication-independent"	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.12C>G	12.37:g.31945089G>C			E9P281	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.T4	ENST00000340398.3	37	c.12	CCDS31769.1	12																																																																																			H3F3C	-	superfamily_Histone-fold,prints_Histone_H3	ENSG00000188375		0.617	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3C	HGNC	protein_coding	OTTHUMT00000349653.1	-	0	78	0	G	NM_001013699		31945089	-1	tier1	-	no_errors	ENST00000340398	ensembl	human	known	74_37	silent	23.96	73	23	SNP	1.000	C	C	31945089	G	C	31945089	2	2	121	1	0	0	0	0	0	0	0	1	6962	1335	47	5		5	H3F3C	12	31945089	Silent	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09		31945089	101906806	47	31773											
MLL2	8085	genome.wustl.edu	37	chr12	49420377	49420378	+	Frame_Shift_Ins	INS	-	-	A																															tggtcttgtccttgaagaacINSatgcacttggcacggatggc																										TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr12:49420377_49420378insA	ENST00000301067.7	-	48	15370_15371	c.15371_15372insT	c.(15370-15372)atgfs	p.M5124fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5124					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)										CCTTGAAGAACATGCACTTGGC	0.54																																																	0																																										SO:0001589	frameshift_variant	0			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.15372dupT	12.37:g.49420378_49420378dupA	ENSP00000301067:p.Met5124fs		O14687	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.M5124fs	ENST00000301067.7	37	c.15372_15371	CCDS44873.1	12																																																																																			KMT2D	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING	ENSG00000167548		0.54	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0	27	0	-			49420378	-1	tier1		no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_ins	11.54	23	3	INS	1.000:1.000	A	A	49420378	-	A	49420377	7	5	121	1	0	1	1	0	0	0	0	0	9659	478	17	0	1269	0	MLL2	12	49420377	Frame_Shift_Ins	INS	-	TCGA-LN-A5U5-01A-21D-A28B-09	17475288	49420377	84431518	48	31774											
MLL2	8085	genome.wustl.edu	37	chr12	49426916	49426916	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgttgttgctgctgctGctgctgggctgtgaccagcc	2	13	15	11	0	0	1	0	1	0	0	0	1	0	1	2	1	7	9	2	1	0	2			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr12:49426916G>A	ENST00000301067.7	-	39	11571	c.11572C>T	c.(11572-11574)Cag>Tag	p.Q3858*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3858	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)										tgctgctgctgctgctgGGCT	0.612																																																	0													15	19	17					12																	49426916		1875	3684	5559	SO:0001587	stop_gained	0			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.11572C>T	12.37:g.49426916G>A	ENSP00000301067:p.Gln3858*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3858*	ENST00000301067.7	37	c.11572	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	52	19.478951	0.99920	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.17	5.17	0.71159	.	0.000000	0.31450	N	0.007634	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8202	0.88648	0.0:0.0:1.0:0.0	.	.	.	.	X	3858	.	ENSP00000301067:Q3858X	Q	-	1	0	MLL2	47713183	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.723000	0.74742	2.583000	0.87209	0.563000	0.77884	CAG	KMT2D	-	NULL	ENSG00000167548		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	47	0	G			49426916	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense	49.04	53	51	SNP	1.000	A	A	49426916	G	A	49426916	4	1	121	1	0	0	0	0	0	1	0	0	9659	1328	46	3	5105	3	MLL2	12	49426916	Nonsense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	6539	49426916	84424979	49	31775											
OR6C2	341416	genome.wustl.edu	37	chr12	55846702	55846702	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagcaaaggaaaaaggcCttttctacctgttcatccca	12	11	7	11	0	3	0	2	0	1	0	4	1	4	1	3	2	2	3	3	2	4	5	rs182901840		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr12:55846702C>T	ENST00000322678.1	+	1	705	c.705C>T	c.(703-705)gcC>gcT	p.A235A	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	235					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GGAAAAAGGCCTTTTCTACCT	0.413																																																	0													145	136	139					12																	55846702		2203	4300	6503	SO:0001819	synonymous_variant	0			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.705C>T	12.37:g.55846702C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A235	ENST00000322678.1	37	c.705	CCDS31824.1	12																																																																																			OR6C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000179695		0.413	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C2	HGNC	protein_coding	OTTHUMT00000406676.1	-	0	46	0	C	NM_054105		55846702	1	tier1	-	no_errors	ENST00000322678	ensembl	human	known	74_37	silent	29.03	44	18	SNP	0.961	T	T	55846702	C	T	55846702	2	4	121	1	0	0	0	0	0	0	0	1	11230	668	24	3		3	OR6C2	12	55846702	Silent	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	6419786	55846702	78005193	50	31776											
NR1H4	9971	genome.wustl.edu	37	chr12	100955761	100955761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctctgcttacagcaattGttatcctgtctccaggtaat	9	15	7	10	0	2	0	0	0	2	0	4	0	3	0	2	1	4	5	2	1	4	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr12:100955761G>T	ENST00000551379.1	+	8	1235	c.1207G>T	c.(1207-1209)Gtt>Ttt	p.V403F	NR1H4_ENST00000549996.1_Missense_Mutation_p.V342F|NR1H4_ENST00000548884.1_Missense_Mutation_p.V389F|NR1H4_ENST00000392986.3_Missense_Mutation_p.V393F|NR1H4_ENST00000188403.7_Missense_Mutation_p.V399F			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	403	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TACAGCAATTGTTATCCTGTC	0.299																																																	0													73	74	74					12																	100955761		2203	4296	6499	SO:0001583	missense	0			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1207G>T	12.37:g.100955761G>T	ENSP00000447149:p.Val403Phe		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.V403F	ENST00000551379.1	37	c.1207	CCDS55876.1	12	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195800	0.78902	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11	5.75	5.75	0.90469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.118865	0.64402	D	0.000014	D	0.98118	0.9379	M	0.78801	2.425	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.76575	0.986;0.988;0.981;0.988;0.968	D	0.98559	1.0640	10	0.72032	D	0.01	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	342;403;399;393;389	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	F	389;393;342;403;399	ENSP00000448506:V389F;ENSP00000376712:V393F;ENSP00000448978:V342F;ENSP00000447149:V403F;ENSP00000188403:V399F	ENSP00000188403:V399F	V	+	1	0	NR1H4	99479892	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.459000	0.73513	2.708000	0.92522	0.650000	0.86243	GTT	NR1H4	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_ThyrH_rcpt	ENSG00000012504		0.299	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	HGNC	protein_coding	OTTHUMT00000409140.1		0	28	0	G	NM_005123		100955761	1			no_errors	ENST00000551379	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	T	T	100955761	G	T	100955761	3	4	121	1	0	0	0	0	1	0	0	0	10658	1377	48	3	1195	3	NR1H4	12	100955761	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	45109059	100955761	32896134	51	31777											
B3GALTL	145173	genome.wustl.edu	37	chr13	31860936	31860936	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcatggttagtcattgtGgatgatgatacattaataag	14	13	10	4	0	1	2	1	2	0	0	1	3	1	3	0	2	2	2	0	2	4	5			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr13:31860936G>T	ENST00000343307.4	+	12	1193	c.1044G>T	c.(1042-1044)gtG>gtT	p.V348V		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	348					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TAGTCATTGTGGATGATGATA	0.333																																																	0													109	105	106					13																	31860936		2203	4299	6502	SO:0001819	synonymous_variant	0			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"Beta 3-glycosyltransferases"	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.1044G>T	13.37:g.31860936G>T			A8K5F8|Q5W0H2|Q6NUI3	Silent	SNP	pfam_Fringe-like	p.V348	ENST00000343307.4	37	c.1044	CCDS9341.1	13																																																																																			B3GALTL	-	pfam_Fringe-like	ENSG00000187676		0.333	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALTL	HGNC	protein_coding	OTTHUMT00000044396.3	-	0	73	0	G	NM_194318		31860936	1	tier1	-	no_errors	ENST00000343307	ensembl	human	known	74_37	silent	11.54	69	9	SNP	1.000	T	T	31860936	G	T	31860936	2	4	121	1	0	0	0	0	0	0	0	1	1253	1335	47	3		3	B3GALTL	13	31860936	Silent	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09		31860936	83308942	52	31778											
STXBP6	29091	genome.wustl.edu	37	chr14	25325274	25325274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctacccactggtcaaaagCattttcaaacaacaaatcaa	17	8	5	11	0	3	0	3	0	0	0	3	0	3	0	1	2	4	2	1	2	7	3			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr14:25325274C>A	ENST00000323944.5	-	4	770	c.319G>T	c.(319-321)Gct>Tct	p.A107S	STXBP6_ENST00000550887.1_Missense_Mutation_p.A107S|STXBP6_ENST00000358326.2_Missense_Mutation_p.A107S|STXBP6_ENST00000546511.1_Missense_Mutation_p.A107S|STXBP6_ENST00000419632.2_Missense_Mutation_p.A107S|STXBP6_ENST00000396700.1_Missense_Mutation_p.A107S|STXBP6_ENST00000548724.1_Missense_Mutation_p.A107S			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	107					negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		TGGTCAAAAGCATTTTCAAAC	0.433																																																	0													97	84	89					14																	25325274		2203	4300	6503	SO:0001583	missense	0			AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.319G>T	14.37:g.25325274C>A	ENSP00000324302:p.Ala107Ser		D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	pfam_Synaptobrevin,pfscan_Synaptobrevin	p.A107S	ENST00000323944.5	37	c.319	CCDS9634.1	14	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742966	0.30865	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000358326	.	.	.	5.14	4.21	0.49690	.	0.277840	0.39274	N	0.001415	T	0.42131	0.1189	L	0.40543	1.245	0.45261	D	0.998268	B	0.26002	0.139	B	0.19946	0.027	T	0.18493	-1.0335	9	0.08381	T	0.77	-24.7604	10.1087	0.42550	0.0:0.8943:0.0:0.1056	.	107	Q8NFX7	STXB6_HUMAN	S	107	.	ENSP00000324302:A107S	A	-	1	0	STXBP6	24395114	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.149000	0.42244	1.086000	0.41228	0.557000	0.71058	GCT	STXBP6	-	NULL	ENSG00000168952		0.433	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STXBP6	HGNC	protein_coding	OTTHUMT00000409166.1	-	0	28	0	C			25325274	-1	tier1	-	no_errors	ENST00000323944	ensembl	human	known	74_37	missense	29.41	24	10	SNP	1.000	A	A	25325274	C	A	25325274	3	1	121	1	0	0	0	0	1	0	0	0	15405	710	25	3	325	3	STXBP6	14	25325274	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09		25325274	82024266	53	31779											
TP53BP1	7158	genome.wustl.edu	37	chr15	43748741	43748741	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcaacggaacactctccaTattttcttctttgagttcct	8	16	6	11	1	3	1	0	1	3	0	5	2	4	2	2	1	3	2	2	1	3	6			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr15:43748741T>G	ENST00000263801.3	-	12	2302	c.2050A>C	c.(2050-2052)Atg>Ctg	p.M684L	TP53BP1_ENST00000382039.3_Missense_Mutation_p.M689L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.M689L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.M689L|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	684					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)		ACACTCTCCATATTTTCTTCT	0.448								Other conserved DNA damage response genes																																									0													102	106	105					15																	43748741		2201	4298	6499	SO:0001583	missense	0			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.2050A>C	15.37:g.43748741T>G	ENSP00000263801:p.Met684Leu		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.M689L	ENST00000263801.3	37	c.2065	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	T	2.951	-0.216823	0.06101	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	4.94	0.906	0.19314	.	0.617223	0.16860	N	0.196566	T	0.27134	0.0665	N	0.19112	0.55	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	0.14727	-1.0462	10	0.26408	T	0.33	-1.1578	6.9046	0.24301	0.0:0.0768:0.2823:0.6408	.	689;684;689;689	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	L	684;689;689;689;689	ENSP00000263801:M684L;ENSP00000371475:M689L;ENSP00000371470:M689L;ENSP00000393497:M689L;ENSP00000388028:M689L	ENSP00000263801:M684L	M	-	1	0	TP53BP1	41536033	0.002000	0.14202	0.820000	0.32676	0.311000	0.27955	0.554000	0.23407	0.289000	0.22422	-0.360000	0.07572	ATG	TP53BP1	-	NULL	ENSG00000067369		0.448	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	-	0	39	0	T			43748741	-1	tier1	-	no_errors	ENST00000382044	ensembl	human	known	74_37	missense	66.67	10	20	SNP	0.014	G	G	43748741	T	G	43748741	3	3	121	1	0	0	0	0	1	0	0	0	16431	1406	49	4	3936	4	TP53BP1	15	43748741	Missense_Mutation	SNP	T	TCGA-LN-A5U5-01A-21D-A28B-09		43748741	58782651	54	31780											
LBXCOR1	390598	genome.wustl.edu	37	chr15	68122570	68122570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcgcccgccgatgatttgGaaacgaggaaatcctatcca	12	8	9	12	4	0	1	0	1	0	0	3	5	2	3	4	2	1	0	4	2	3	2			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr15:68122570G>A	ENST00000380035.2	+	4	2507	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000341418.5_Missense_Mutation_p.E720K|SKOR1_ENST00000389002.1_Missense_Mutation_p.E773K|SKOR1_ENST00000554054.1_Missense_Mutation_p.E789K|SKOR1_ENST00000554240.1_Missense_Mutation_p.E778K			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	817					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGATGATTTGGAAACGAGGAA	0.517																																																	0													85	75	79					15																	68122570		2200	4298	6498	SO:0001583	missense	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2449G>A	15.37:g.68122570G>A	ENSP00000369374:p.Glu817Lys		A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.E817K	ENST00000380035.2	37	c.2449		15	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861962	0.91433	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.79	2.7	0.31948	.	0.198748	0.43747	D	0.000535	T	0.39253	0.1071	L	0.27053	0.805	0.36458	D	0.866513	D	0.55385	0.971	P	0.49421	0.61	T	0.40683	-0.9550	10	0.35671	T	0.21	-23.248	9.7721	0.40595	0.0733:0.2651:0.6616:0.0	.	773	P84550-3	.	K	720;778;789;817;773	ENSP00000343200:E720K;ENSP00000451193:E778K;ENSP00000452361:E789K;ENSP00000369374:E817K;ENSP00000373654:E773K	ENSP00000343200:E720K	E	+	1	0	SKOR1	65909624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.026000	0.64103	0.765000	0.33221	0.655000	0.94253	GAA	SKOR1	-	NULL	ENSG00000188779		0.517	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	-	0	68	0	G	NM_001031807		68122570	1	tier1	-	no_errors	ENST00000380035	ensembl	human	known	74_37	missense	66.67	17	34	SNP	1.000	A	A	68122570	G	A	68122570	3	1	121	1	0	0	0	0	1	0	0	0	8683	1175	41	3	2335	3	LBXCOR1	15	68122570	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	24373829	68122570	34408822	55	31781											
TSC2	7249	genome.wustl.edu	37	chr16	2111977	2111977	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcaggagagatactttGaactggtggagagatgtgcg	10	10	16	5	1	1	3	1	1	1	2	2	7	1	5	0	4	3	0	0	4	2	2	rs137853998|rs137854127		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:2111977G>T	ENST00000219476.3	+	12	1855	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	TSC2_ENST00000568454.1_Nonsense_Mutation_p.E420*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.E409*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.E409*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.E360*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.E372*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.E409*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	409					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)				GAGATACTTTGAACTGGTGGA	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													103	91	95					16																	2111977		2198	4300	6498	SO:0001587	stop_gained	0	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.1225G>T	16.37:g.2111977G>T	ENSP00000219476:p.Glu409*		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Nonsense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.E409*	ENST00000219476.3	37	c.1225	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	.	37	6.482393	0.97603	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	4.95	3.98	0.46160	.	0.236727	0.44483	D	0.000456	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-19.5246	15.1814	0.72962	0.0:0.1419:0.8581:0.0	.	.	.	.	X	409;409;409;372;360;409	.	ENSP00000219476:E409X	E	+	1	0	TSC2	2051978	1.000000	0.71417	0.567000	0.28434	0.821000	0.46438	5.620000	0.67736	1.054000	0.40438	0.561000	0.74099	GAA	TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold	ENSG00000103197		0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0	86	0	G	NM_000548		2111977	1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	nonsense	29.63	57	24	SNP	0.995	T	T	2111977	G	T	2111977	4	4	121	1	0	0	0	0	0	1	0	0	16654	1291	45	3	1267	3	TSC2	16	2111977	Nonsense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09		2111977	88242776	56	31782											
DNASE1	1773	genome.wustl.edu	37	chr16	3705487	3705487	+	Missense_Mutation	SNP	T	T	A	0	1	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	gacatttggggagaccaagaTgtccaatgccaccctcgtca	11	8	10	12	1	1	2	1	0	0	2	3	4	2	2	4	2	1	0	4	2	2	1	rs369619441		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:3705487T>A	ENST00000246949.5	+	2	3322	c.113T>A	c.(112-114)aTg>aAg	p.M38K	DNASE1_ENST00000414110.2_5'UTR|DNASE1_ENST00000407479.1_Missense_Mutation_p.M38K	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	38					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		GAGACCAAGATGTCCAATGCC	0.632																																																	0													78	65	70					16																	3705487		2197	4300	6497	SO:0001583	missense	0				CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.113T>A	16.37:g.3705487T>A	ENSP00000246949:p.Met38Lys		B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I	p.M38K	ENST00000246949.5	37	c.113	CCDS10507.1	16	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997943	0.54147	.	.	ENSG00000213918	ENST00000407479;ENST00000246949	T;T	0.50548	0.74;0.74	5.39	5.39	0.77823	Endonuclease/exonuclease/phosphatase (2);	0.204181	0.53938	D	0.000052	T	0.51024	0.1650	M	0.72118	2.19	0.80722	D	1	P	0.49253	0.921	P	0.45099	0.469	T	0.52593	-0.8555	10	0.33141	T	0.24	-1.2812	13.1437	0.59448	0.0:0.0:0.0:1.0	.	38	P24855	DNAS1_HUMAN	K	38	ENSP00000385905:M38K;ENSP00000246949:M38K	ENSP00000246949:M38K	M	+	2	0	DNASE1	3645488	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.098000	0.41757	2.057000	0.61298	0.459000	0.35465	ATG	DNASE1	-	pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I	ENSG00000213918		0.632	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1	HGNC	protein_coding	OTTHUMT00000251585.2	-	0	100	0	T			3705487	1	tier1	-	no_errors	ENST00000246949	ensembl	human	known	74_37	missense	5.00	114	6	SNP	1.000	A	A	3705487	T	A	3705487	3	1	121	1	0	0	0	0	1	0	0	0	4674	1464	51	5	115	5	DNASE1	16	3705487	Missense_Mutation	SNP	T	TCGA-LN-A5U5-01A-21D-A28B-09	1593510	3705487	86649266	57	31783											
ALG1	56052	genome.wustl.edu	37	chr16	5121961	5121961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcccggcatgtagtagcGgtggtgctgggcgacgtggg	4	7	21	9	5	0	0	0	0	0	0	0	1	0	0	1	6	2	4	1	6	2	2			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:5121961G>A	ENST00000262374.5	+	1	142	c.111G>A	c.(109-111)gcG>gcA	p.A37A	ALG1_ENST00000588623.1_Intron|ALG1_ENST00000544428.1_5'Flank	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	37					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)				ATGTAGTAGCGGTGGTGCTGG	0.697																																																	0													8	10	9					16																	5121961		2179	4262	6441	SO:0001819	synonymous_variant	0			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.111G>A	16.37:g.5121961G>A			B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	pfam_Glyco_trans_1	p.A37	ENST00000262374.5	37	c.111	CCDS10528.1	16																																																																																			ALG1	-	NULL	ENSG00000033011		0.697	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251716.2	-	0	36	0	G	NM_019109		5121961	1	tier1	-	no_errors	ENST00000262374	ensembl	human	known	74_37	silent	30.30	23	10	SNP	0.412	A	A	5121961	G	A	5121961	2	1	121	1	0	0	0	0	0	0	0	1	510	1103	39	1		1	ALG1	16	5121961	Silent	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	1416474	5121961	85232792	58	31784											
TAOK2	9344	genome.wustl.edu	37	chr16	29998794	29998794	+	Silent	SNP	C	C	A	0	0	0	1	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	gtggctatggcagcggggggCagatgggtgcggcagcaggg	6	5	23	7	2	0	1	0	0	0	1	0	1	0	1	0	8	3	5	0	8	1	1			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:29998794C>A	ENST00000308893.4	+	16	4244	c.3201C>A	c.(3199-3201)ggC>ggA	p.G1067G	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.G954G|TAOK2_ENST00000416441.2_Silent_p.G894G	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1067					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						CAGCGGGGGGCAGATGGGTGC	0.697																																																	0													18	25	22					16																	29998794		2185	4290	6475	SO:0001819	synonymous_variant	0			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.3201C>A	16.37:g.29998794C>A			A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G1067	ENST00000308893.4	37	c.3201	CCDS10663.1	16																																																																																			TAOK2	-	NULL	ENSG00000149930		0.697	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	-	0	74	0	C	NM_016151		29998794	1	tier1	-	no_errors	ENST00000308893	ensembl	human	known	74_37	silent	42.70	51	38	SNP	0.945	A	A	29998794	C	A	29998794	2	1	121	1	0	0	0	0	0	0	0	1	15595	697	25	3		3	TAOK2	16	29998794	Silent	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	24876833	29998794	60355959	59	31785											
SALL1	6299	genome.wustl.edu	37	chr16	51174133	51174133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acttggccttgaactgctcgGacatgagcggcaacaaaggg	11	7	13	10	2	0	2	0	2	0	0	1	3	0	3	1	4	4	2	1	4	3	2			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:51174133G>A	ENST00000251020.4	-	2	2033	c.2000C>T	c.(1999-2001)tCc>tTc	p.S667F	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S570F	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	667					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)			GAACTGCTCGGACATGAGCGG	0.597																																					GBM(103;1352 1446 1855 4775 8890)												0													61	65	64					16																	51174133		2198	4300	6498	SO:0001583	missense	0			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.2000C>T	16.37:g.51174133G>A	ENSP00000251020:p.Ser667Phe		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S667F	ENST00000251020.4	37	c.2000	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922772	0.52653	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.09255	3.01;3.0	4.79	4.79	0.61399	.	0.059554	0.64402	D	0.000001	T	0.31104	0.0786	M	0.77313	2.365	0.80722	D	1	D	0.64830	0.994	P	0.58077	0.832	T	0.07770	-1.0755	10	0.62326	D	0.03	.	18.0351	0.89298	0.0:0.0:1.0:0.0	.	667	Q9NSC2	SALL1_HUMAN	F	667;570;631	ENSP00000251020:S667F;ENSP00000407914:S570F	ENSP00000251020:S667F	S	-	2	0	SALL1	49731634	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.674000	0.83992	2.478000	0.83669	0.557000	0.71058	TCC	SALL1	-	NULL	ENSG00000103449		0.597	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	61	0	G	NM_002968		51174133	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	38.78	29	19	SNP	1.000	A	A	51174133	G	A	51174133	3	1	121	1	0	0	0	0	1	0	0	0	13855	1174	41	3	1982	3	SALL1	16	51174133	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	21175339	51174133	39180620	60	31786											
CX3CL1	6376	genome.wustl.edu	37	chr16	57416011	57416011	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcaaggacgcgatgcaGcatctggaccgccaggctgc	8	6	15	12	3	2	0	1	0	1	0	2	3	2	2	2	4	3	3	2	4	1	0	rs373682759		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:57416011G>A	ENST00000006053.6	+	3	372	c.261G>A	c.(259-261)caG>caA	p.Q87Q	CX3CL1_ENST00000565912.1_Silent_p.Q49Q|CX3CL1_ENST00000564948.1_Missense_Mutation_p.S47N|CX3CL1_ENST00000563383.1_Silent_p.Q93Q	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	87	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						ACGCGATGCAGCATCTGGACC	0.612																																																	0								G		0,4396		0,0,2198	70	68	68		261	0.8	0	16		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CX3CL1	NM_002996.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		87/398	57416011	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.261G>A	16.37:g.57416011G>A			O00672	Missense_Mutation	SNP	NULL	p.S47N	ENST00000006053.6	37	c.140	CCDS10779.1	16																																																																																			CX3CL1	-	NULL	ENSG00000006210		0.612	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	HGNC	protein_coding	OTTHUMT00000257345.3	-	0	58	0	G	NM_002996		57416011	1	tier1	-	no_errors	ENST00000564948	ensembl	human	putative	74_37	missense	46.84	42	37	SNP	0.000	A	A	57416011	G	A	57416011	2	1	121	1	0	0	0	0	0	0	0	1	4083	962	34	3		3	CX3CL1	16	57416011	Silent	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	6241878	57416011	32938742	61	31787											
TEPP	374739	genome.wustl.edu	37	chr16	58018605	58018605	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagctggcgcccatcgcGccaggcatcaaccgagtgga	10	4	14	13	4	1	0	1	0	0	0	2	3	1	2	3	4	2	2	3	4	2	0			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:58018605G>A	ENST00000441824.2	+	4	553	c.516G>A	c.(514-516)gcG>gcA	p.A172A	TEPP_ENST00000290871.5_Silent_p.A172A|TEPP_ENST00000569996.1_3'UTR	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	172						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CGCCCATCGCGCCAGGCATCA	0.677																																																	0													26	24	24					16																	58018605		2193	4295	6488	SO:0001819	synonymous_variant	0			BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.516G>A	16.37:g.58018605G>A			Q6URK7	Silent	SNP	NULL	p.A172	ENST00000441824.2	37	c.516	CCDS45496.1	16																																																																																			TEPP	-	NULL	ENSG00000159648		0.677	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEPP	HGNC	protein_coding	OTTHUMT00000431966.1	-	0	83	0	G	NM_199456		58018605	1	tier1	-	no_errors	ENST00000290871	ensembl	human	known	74_37	silent	34.18	52	27	SNP	0.037	A	A	58018605	G	A	58018605	2	1	121	1	0	0	0	0	0	0	0	1	15807	1074	38	1		1	TEPP	16	58018605	Silent	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	602594	58018605	32336148	62	31788											
PMFBP1	83449	genome.wustl.edu	37	chr16	72154011	72154011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaggagaggaaggacGggttgtgttggggctgctgg	7	8	23	3	1	0	1	0	0	0	1	0	5	0	4	0	8	1	4	0	8	2	2			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:72154011G>A	ENST00000355636.6	-	20	2984	c.2371C>T	c.(2371-2373)Cgt>Tgt	p.R791C	PMFBP1_ENST00000537792.1_Intron|PMFBP1_ENST00000537465.1_Intron|PMFBP1_ENST00000237353.10_Intron	NM_001160213.1	NP_001153685.1	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	928						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGGAAGGACGGGTTGTGTTG	0.517																																																	0													205	226	219					16																	72154011		2198	4300	6498	SO:0001583	missense	0			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000355636.6:c.2371C>T	16.37:g.72154011G>A	ENSP00000347854:p.Arg791Cys		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.R791C	ENST00000355636.6	37	c.2371		16	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943300	0.53079	.	.	ENSG00000118557	ENST00000355636	T	0.15952	2.38	4.66	2.34	0.29019	.	.	.	.	.	T	0.07999	0.0200	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.40664	-0.9551	6	.	.	.	.	6.9738	0.24664	0.8037:0.0:0.1963:0.0	.	.	.	.	C	791	ENSP00000347854:R791C	.	R	-	1	0	PMFBP1	70711512	0.017000	0.18338	0.001000	0.08648	0.036000	0.12997	0.455000	0.21843	0.358000	0.24211	-0.373000	0.07131	CGT	PMFBP1	-	NULL	ENSG00000118557		0.517	PMFBP1-201	KNOWN	basic|appris_candidate	protein_coding	PMFBP1	HGNC	protein_coding		-	0	78	0	G	NM_031293		72154011	-1	tier1	-	no_errors	ENST00000355636	ensembl	human	known	74_37	missense	35.06	48	27	SNP	0.002	A	A	72154011	G	A	72154011	3	1	121	1	0	0	0	0	1	0	0	0	12173	1116	39	1	285	1	PMFBP1	16	72154011	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	14135406	72154011	18200742	63	31789											
C17orf81	23587	genome.wustl.edu	37	chr17	7156110	7156110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccgtggagtgggaggggcGcagtctcttgaaggcgcttg	5	10	18	8	3	1	1	0	1	1	0	3	3	2	3	1	5	0	2	1	5	1	3			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr17:7156110G>T	ENST00000396628.2	+	2	333	c.116G>T	c.(115-117)cGc>cTc	p.R39L	CTDNEP1_ENST00000318988.6_5'Flank|ELP5_ENST00000356683.2_Missense_Mutation_p.R39L|CTDNEP1_ENST00000574322.1_5'Flank|ELP5_ENST00000574993.1_Missense_Mutation_p.R39L|CTDNEP1_ENST00000572043.1_5'Flank|RP1-4G17.5_ENST00000577138.1_Intron|CTDNEP1_ENST00000573600.1_5'Flank|ELP5_ENST00000396627.2_Missense_Mutation_p.R39L|ELP5_ENST00000354429.2_Missense_Mutation_p.R39L|ELP5_ENST00000574255.1_Missense_Mutation_p.R39L|ELP5_ENST00000573657.1_Missense_Mutation_p.R39L	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	39					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)											TGGGAGGGGCGCAGTCTCTTG	0.587																																																	0													70	70	70					17																	7156110		2203	4300	6503	SO:0001583	missense	0			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.116G>T	17.37:g.7156110G>T	ENSP00000379869:p.Arg39Leu		A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	pfam_Elp5	p.R39L	ENST00000396628.2	37	c.116	CCDS11094.1	17	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569341	0.86439	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	T;T;T;T	0.61040	0.97;0.97;0.97;0.14	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.72495	0.3467	M	0.68952	2.095	0.52501	D	0.999951	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.91635	0.997;0.992;0.999;0.998	T	0.75379	-0.3338	10	0.87932	D	0	-15.3871	12.8382	0.57786	0.0:0.0:1.0:0.0	.	39;39;39;39	Q8TE02-2;Q8TE02-3;A8K1M5;Q8TE02	.;.;.;DERP6_HUMAN	L	39	ENSP00000346412:R39L;ENSP00000379869:R39L;ENSP00000379868:R39L;ENSP00000349111:R39L	ENSP00000346412:R39L	R	+	2	0	C17orf81	7096834	1.000000	0.71417	0.999000	0.59377	0.780000	0.44128	4.488000	0.60300	2.481000	0.83766	0.632000	0.83419	CGC	ELP5	-	pfam_Elp5	ENSG00000170291		0.587	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ELP5	HGNC	protein_coding	OTTHUMT00000440111.1	-	0	101	0	G	NM_015362		7156110	1	tier1	-	no_errors	ENST00000354429	ensembl	human	known	74_37	missense	27.18	75	28	SNP	0.996	T	T	7156110	G	T	7156110	3	4	121	1	0	0	0	0	1	0	0	0	1892	1087	38	2	122	2	C17orf81	17	7156110	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09		7156110	74039100	64	31790											
TP53	7157	genome.wustl.edu	37	chr17	7577595	7577595	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgtagtggatggtggtaCagtcagagccaacctaggag	11	9	15	6	0	1	1	1	0	0	1	1	3	1	3	2	4	3	3	2	4	4	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr17:7577595C>A	ENST00000269305.4	-	7	875	c.686G>T	c.(685-687)tGt>tTt	p.C229F	TP53_ENST00000420246.2_Missense_Mutation_p.C229F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C229F|TP53_ENST00000445888.2_Missense_Mutation_p.C229F|TP53_ENST00000413465.2_Missense_Mutation_p.C229F|TP53_ENST00000359597.4_Missense_Mutation_p.C229F	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(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(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)	GATGGTGGTACAGTCAGAGCC	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"	46	Deletion - Frameshift(17)|Whole gene deletion(8)|Substitution - Missense(7)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Complex - frameshift(1)	biliary_tract(13)|ovary(9)|breast(4)|bone(4)|oesophagus(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|urinary_tract(1)|skin(1)|lung(1)|pancreas(1)|liver(1)											105	86	92					17																	7577595		2203	4300	6503	SO:0001583	missense	0	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.686G>T	17.37:g.7577595C>A	ENSP00000269305:p.Cys229Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C229F	ENST00000269305.4	37	c.686	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098420	0.20552	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	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	4.48	0.0971	0.14493	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.350628	0.33346	N	0.005002	D	0.97483	0.9176	L	0.37561	1.115	0.44181	D	0.996996	B;P;B;B;B;P	0.45531	0.053;0.86;0.02;0.06;0.215;0.816	B;B;B;B;B;B	0.41466	0.06;0.358;0.048;0.108;0.231;0.256	D	0.98188	1.0461	10	0.02654	T	1	-0.3974	4.5049	0.11883	0.1548:0.5708:0.0:0.2744	.	229;229;136;229;229;229	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	229;229;229;229;229;229;218;136;97;136	ENSP00000410739:C229F;ENSP00000352610:C229F;ENSP00000269305:C229F;ENSP00000398846:C229F;ENSP00000391127:C229F;ENSP00000391478:C229F;ENSP00000425104:C97F;ENSP00000423862:C136F	ENSP00000269305:C229F	C	-	2	0	TP53	7518320	0.337000	0.24766	0.179000	0.23059	0.932000	0.56968	0.359000	0.20233	-0.019000	0.14055	0.462000	0.41574	TGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	72	0	C	NM_000546		7577595	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	6.09	20	7	SNP	0.864	A	A	7577595	C	A	7577595	3	1	121	1	0	0	0	0	1	0	0	0	16429	478	17	3	604	3	TP53	17	7577595	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	421485	7577595	73617615	65	31791											
KCNJ12	3768	genome.wustl.edu	37	chr17	21319869	21319869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaagccgggacggcctcagCccccaggccaggcatgactt	8	4	13	16	3	1	1	1	1	0	0	1	3	1	2	5	4	2	1	5	4	1	1	rs564486905		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr17:21319869C>T	ENST00000583088.1	+	3	2110	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	KCNJ12_ENST00000331718.5_Silent_p.S405S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	405				S -> I (in Ref. 2; AAC50615). {ECO:0000305}.	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)	ACGGCCTCAGCCCCCAGGCCA	0.662										Prostate(3;0.18)			.|||	1	0.000199681	0	0	5008	,	,		30967	0		0.001	False		,,,				2504	0																0													35	36	36					17																	21319869		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1215C>T	17.37:g.21319869C>T			O43401|Q15756|Q8NG63	Silent	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.S405	ENST00000583088.1	37	c.1215	CCDS11219.1	17																																																																																			KCNJ12	-	pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.662	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0	39	0	C	NM_021012		21319869	1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	silent	7.46	62	5	SNP	1.000	T	T	21319869	C	T	21319869	2	4	121	1	0	0	0	0	0	0	0	1	8073	738	26	3		3	KCNJ12	17	21319869	Silent	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	13742274	21319869	59875341	66	31792											
KRT15	3866	genome.wustl.edu	37	chr17	39671781	39671781	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cgatctcctgctccagccgtGtctttatgtcaagcagcatc	7	12	8	14	2	3	0	1	0	2	0	6	1	4	0	3	0	4	3	3	0	2	2			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr17:39671781G>T	ENST00000254043.3	-	6	4775	c.1190C>A	c.(1189-1191)aCa>aAa	p.T397K	KRT15_ENST00000393981.3_Missense_Mutation_p.T232K|KRT15_ENST00000393976.2_Missense_Mutation_p.T397K|KRT15_ENST00000393974.3_Missense_Mutation_p.T232K	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	397	Coil 2.|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)				CTCCAGCCGTGTCTTTATGTC	0.602																																																	0													145	123	130					17																	39671781		2203	4300	6503	SO:0001583	missense	0				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.1190C>A	17.37:g.39671781G>T	ENSP00000254043:p.Thr397Lys		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.T397K	ENST00000254043.3	37	c.1190	CCDS11398.1	17	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874302	0.72180	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	4.71	3.74	0.42951	Filament (1);	0.130216	0.34700	N	0.003756	D	0.95089	0.8409	H	0.94264	3.515	0.34472	D	0.702965	D;D;D	0.60575	0.961;0.988;0.979	P;D;P	0.67548	0.794;0.952;0.876	D	0.97360	0.9969	10	0.87932	D	0	.	10.1805	0.42965	0.0772:0.2034:0.7193:0.0	.	232;397;397	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	K	397;232;397;232	ENSP00000254043:T397K;ENSP00000377544:T232K;ENSP00000377546:T397K;ENSP00000377550:T232K	ENSP00000254043:T397K	T	-	2	0	KRT15	36925307	0.013000	0.17824	0.945000	0.38365	0.907000	0.53573	0.668000	0.25127	1.194000	0.43101	0.655000	0.94253	ACA	KRT15	-	pfam_IF	ENSG00000171346		0.602	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT15	HGNC	protein_coding	OTTHUMT00000257301.1	-	0	52	0	G	NM_002275		39671781	-1	tier1	-	no_errors	ENST00000254043	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.947	T	T	39671781	G	T	39671781	3	4	121	1	0	0	0	0	1	0	0	0	8479	1377	48	3	192	3	KRT15	17	39671781	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09	18351912	39671781	41523429	67	31793											
TEX14	56155	genome.wustl.edu	37	chr17	56663385	56663385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcagactactctgaggatgCcaaggaggtactgtgagctg	10	9	14	8	0	2	3	1	2	1	1	2	5	2	5	1	3	4	2	1	3	3	2			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr17:56663385C>A	ENST00000240361.8	-	18	2950	c.2865G>T	c.(2863-2865)tgG>tgT	p.W955C	TEX14_ENST00000349033.5_Missense_Mutation_p.W949C|TEX14_ENST00000389934.3_Missense_Mutation_p.W949C			Q8IWB6	TEX14_HUMAN	testis expressed 14	955					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)					TCTGAGGATGCCAAGGAGGTA	0.502																																																	0													147	148	147					17																	56663385		2203	4300	6503	SO:0001583	missense	0			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.2865G>T	17.37:g.56663385C>A	ENSP00000240361:p.Trp955Cys		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.W955C	ENST00000240361.8	37	c.2865	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772280	0.69992	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;T	0.82255	-1.59;-1.59;-1.48	5.38	5.38	0.77491	.	0.254221	0.30630	N	0.009216	D	0.89248	0.6661	M	0.62723	1.935	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.985;0.993;0.993	D	0.89359	0.3666	10	0.54805	T	0.06	-5.9715	14.6293	0.68645	0.0:1.0:0.0:0.0	.	955;949;949	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	C	955;949;949	ENSP00000240361:W955C;ENSP00000374584:W949C;ENSP00000268910:W949C	ENSP00000240361:W955C	W	-	3	0	TEX14	54018384	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.328000	0.43867	2.529000	0.85273	0.561000	0.74099	TGG	TEX14	-	NULL	ENSG00000121101		0.502	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	-	0	52	0	C			56663385	-1	tier1	-	no_errors	ENST00000240361	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	A	A	56663385	C	A	56663385	3	1	121	1	0	0	0	0	1	0	0	0	15825	740	26	3	1692	3	TEX14	17	56663385	Missense_Mutation	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	16991604	56663385	24531825	68	31794											
TCEB3B	51224	genome.wustl.edu	37	chr18	44560391	44560391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacgagtgcccttggattcGtttgctttcctttgtttatc	4	19	8	10	2	1	0	1	0	0	0	4	2	2	1	2	1	2	3	2	1	1	7			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr18:44560391G>T	ENST00000332567.4	-	1	1597	c.1245C>A	c.(1243-1245)aaC>aaA	p.N415K	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)	415					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						CCTTGGATTCGTTTGCTTTCC	0.507																																																	0													114	100	105					18																	44560391		2203	4300	6503	SO:0001583	missense	0			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.1245C>A	18.37:g.44560391G>T	ENSP00000331302:p.Asn415Lys		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.N415K	ENST00000332567.4	37	c.1245	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	G	1.093	-0.663579	0.03428	.	.	ENSG00000206181	ENST00000332567	T	0.06849	3.25	1.94	-3.88	0.04205	.	1.649140	0.05372	U	0.535551	T	0.04318	0.0119	N	0.20986	0.625	0.09310	N	1	B	0.19583	0.037	B	0.18871	0.023	T	0.40627	-0.9553	10	0.13853	T	0.58	.	0.5517	0.00664	0.3128:0.1637:0.3172:0.2064	.	415	Q8IYF1	ELOA2_HUMAN	K	415	ENSP00000331302:N415K	ENSP00000331302:N415K	N	-	3	2	TCEB3B	42814389	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.052000	0.01401	-2.440000	0.00550	-1.429000	0.01096	AAC	TCEB3B	-	NULL	ENSG00000206181		0.507	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1		0	92	0	G	NM_016427		44560391	-1			no_errors	ENST00000332567	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.000	T	T	44560391	G	T	44560391	3	4	121	1	0	0	0	0	1	0	0	0	15729	1136	40	2	1020	2	TCEB3B	18	44560391	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09		44560391	33516857	69	31795											
CXXC1	30827	genome.wustl.edu	37	chr18	47810910	47810911	+	In_Frame_Ins	INS	-	-	GCC																															gtgcttctgcttctgccgatINSgccgcttgtatcgctcctcc																										TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr18:47810910_47810911insGCC	ENST00000285106.6	-	9	1756_1757	c.1042_1043insGGC	c.(1042-1044)cat>cGGCat	p.347_348insR	MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_In_Frame_Ins_p.347_348insR|MBD1_ENST00000347968.3_5'Flank|CXXC1_ENST00000412036.2_In_Frame_Ins_p.351_352insR|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000269471.5_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	347	Arg/Lys-rich (basic).				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						CTTCTGCCGATGCCGCTTGTAT	0.584																																																	0																																										SO:0001652	inframe_insertion	0			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.1040_1042dupGGC	18.37:g.47810911_47810913dupGCC	ENSP00000285106:p.Arg348_Arg349dup		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	In_Frame_Ins	INS	pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.352in_frame_insR	ENST00000285106.6	37	c.1055_1054	CCDS11945.1	18																																																																																			CXXC1	-	NULL	ENSG00000154832		0.584	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	HGNC	protein_coding	OTTHUMT00000255927.2		0	44	0	-	NM_014593		47810911	-1	tier1		no_errors	ENST00000412036	ensembl	human	known	74_37	in_frame_ins	41.67	14	10	INS	1.000:1.000	GCC	GCC	47810911	-	GCC	47810910	7	5	121	1	0	1	1	0	0	0	0	0	4106	1464	51	0	955	0	CXXC1	18	47810910	In_Frame_Ins	INS	-	TCGA-LN-A5U5-01A-21D-A28B-09	3250519	47810910	30266338	70	31796											
C3	718	genome.wustl.edu	37	chr19	6690725	6690725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgtctttctcgttgttgTtccgtaatccaccctgagat	6	16	7	12	2	2	1	0	1	2	1	5	2	4	1	4	0	0	4	4	0	1	5			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr19:6690725T>C	ENST00000245907.6	-	27	3496	c.3404A>G	c.(3403-3405)aAc>aGc	p.N1135S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1135					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)	CTCGTTGTTGTTCCGTAATCC	0.532																																																	0													140	111	121					19																	6690725		2203	4300	6503	SO:0001583	missense	0			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.3404A>G	19.37:g.6690725T>C	ENSP00000245907:p.Asn1135Ser		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.N1135S	ENST00000245907.6	37	c.3404	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434841	0.25813	.	.	ENSG00000125730	ENST00000245907	T	0.36878	1.23	5.69	2.12	0.27331	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.574390	0.16876	N	0.195907	T	0.17831	0.0428	N	0.12502	0.225	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14811	-1.0459	10	0.51188	T	0.08	.	4.4498	0.11614	0.0:0.2164:0.1715:0.6121	.	1135	P01024	CO3_HUMAN	S	1135	ENSP00000245907:N1135S	ENSP00000245907:N1135S	N	-	2	0	C3	6641725	0.006000	0.16342	0.000000	0.03702	0.101000	0.19017	1.929000	0.40114	0.403000	0.25479	0.402000	0.26972	AAC	C3	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000125730		0.532	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	-	0	66	0	T	NM_000064		6690725	-1	tier1	-	no_errors	ENST00000245907	ensembl	human	known	74_37	missense	44.44	30	24	SNP	0.000	C	C	6690725	T	C	6690725	3	2	121	1	0	0	0	0	1	0	0	0	2211	1725	60	4	1647	4	C3	19	6690725	Missense_Mutation	SNP	T	TCGA-LN-A5U5-01A-21D-A28B-09		6690725	52438258	71	31797											
SBSN	374897	genome.wustl.edu	37	chr19	36018071	36018071	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcattaaccccatggtggacCccatggccgagcttctctgt	7	11	9	14	1	2	0	1	0	1	0	3	2	2	1	5	3	2	1	5	3	1	2			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr19:36018071C>T	ENST00000452271.2	-	1	1141	c.1113G>A	c.(1111-1113)ggG>ggA	p.G371G	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	371	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CATGGTGGACCCCATGGCCGA	0.582																																																	0													54	52	53					19																	36018071		692	1591	2283	SO:0001819	synonymous_variant	0			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1113G>A	19.37:g.36018071C>T			A8K5J0|E9PBV3	Silent	SNP	NULL	p.G371	ENST00000452271.2	37	c.1113	CCDS54253.1	19																																																																																			SBSN	-	NULL	ENSG00000189001		0.582	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SBSN	HGNC	protein_coding	OTTHUMT00000109463.3	-	0	136	0	C	NM_198538		36018071	-1	tier1	-	no_errors	ENST00000452271	ensembl	human	novel	74_37	silent	33.08	87	43	SNP	0.630	T	T	36018071	C	T	36018071	2	4	121	1	0	0	0	0	0	0	0	1	13909	610	22	3		3	SBSN	19	36018071	Silent	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	29327346	36018071	23110912	72	31798											
SUPT5H	6829	genome.wustl.edu	37	chr19	39963105	39963105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcctatgagtccccggatCagcagccccatgcaccccag	8	5	10	18	2	1	1	1	1	0	0	2	2	2	2	7	1	3	2	7	1	1	1			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr19:39963105C>T	ENST00000599117.1	+	22	2374	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	SUPT5H_ENST00000598725.1_Silent_p.I669I|SUPT5H_ENST00000402194.2_Silent_p.I665I|SUPT5H_ENST00000359191.6_Silent_p.I665I|SUPT5H_ENST00000432763.2_Silent_p.I669I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	669					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)			GTCCCCGGATCAGCAGCCCCA	0.602																																																	0													85	75	78					19																	39963105		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2007C>T	19.37:g.39963105C>T			O43279|Q59G52|Q99639	Silent	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5	p.I669	ENST00000599117.1	37	c.2007	CCDS12536.1	19																																																																																			SUPT5H	-	pirsf_TF_Spt5	ENSG00000196235		0.602	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	-	0	75	0	C	NM_003169		39963105	1	tier1	-	no_errors	ENST00000432763	ensembl	human	known	74_37	silent	34.94	54	29	SNP	1.000	T	T	39963105	C	T	39963105	2	4	121	1	0	0	0	0	0	0	0	1	15446	816	29	3		3	SUPT5H	19	39963105	Silent	SNP	C	TCGA-LN-A5U5-01A-21D-A28B-09	3945034	39963105	19165878	73	31799											
DDX27	55661	genome.wustl.edu	37	chr20	47855789	47855789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagatcaatacagcaaagcGgctcctggagaaggggaagg	15	4	14	8	1	1	2	1	0	0	2	2	4	2	3	1	5	3	2	1	5	5	1	rs377559919		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr20:47855789G>T	ENST00000371764.4	+	16	1913	c.1904G>T	c.(1903-1905)cGg>cTg	p.R635L	ZNFX1_ENST00000469991.1_5'UTR|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R1159S|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	635						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACAGCAAAGCGGCTCCTGGAG	0.532																																																	0													42	43	43					20																	47855789		2203	4300	6503	SO:0001583	missense	0			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1904G>T	20.37:g.47855789G>T	ENSP00000360828:p.Arg635Leu		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.R1159S	ENST00000371764.4	37	c.3475	CCDS13416.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.61|15.61	2.884966|2.884966	0.51908|0.51908	.|.	.|.	ENSG00000124228|ENSG00000124201	ENST00000371764|ENST00000371754	T|D	0.01474|0.89617	4.85|-2.54	5.51|5.51	2.48|2.48	0.30137|0.30137	.|.	0.203047|0.203047	0.40640|0.40640	N|N	0.001046|0.001046	D|D	0.84257|0.84257	0.5432|0.5432	L|L	0.43923|0.43923	1.385|1.385	0.54753|0.54753	D|D	0.999987|0.999987	B|.	0.27450|.	0.179|.	B|.	0.30401|.	0.115|.	T|T	0.76094|0.76094	-0.3085|-0.3085	10|8	0.35671|0.26408	T|T	0.21|0.33	-11.711|-11.711	4.6084|4.6084	0.12389|0.12389	0.2514:0.0:0.5964:0.1522|0.2514:0.0:0.5964:0.1522	.|.	635|.	Q96GQ7|.	DDX27_HUMAN|.	L|S	635|1159	ENSP00000360828:R635L|ENSP00000360819:R1159S	ENSP00000360828:R635L|ENSP00000360819:R1159S	R|R	+|-	2|1	0|0	DDX27|ZNFX1	47289196|47289196	0.976000|0.976000	0.34144|0.34144	0.990000|0.990000	0.47175|0.47175	0.988000|0.988000	0.76386|0.76386	1.610000|1.610000	0.36869|0.36869	0.688000|0.688000	0.31529|0.31529	0.655000|0.655000	0.94253|0.94253	CGG|CGC	ZNFX1	-	NULL	ENSG00000124201		0.532	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000080485.1		0	46	0	G			47855789	-1			no_errors	ENST00000371754	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.895	T	T	47855789	G	T	47855789	3	4	121	1	0	0	0	0	1	0	0	0	4363	1116	39	2	1966	2	DDX27	20	47855789	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09		47855789	15169731	74	31800											
KRTAP11-1	337880	genome.wustl.edu	37	chr21	32253537	32253537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actagagacaaaggtgagcgGccggctgtaggtagttgagc	11	7	16	7	2	0	3	0	2	0	1	0	4	0	3	1	4	2	4	1	4	4	4			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr21:32253537G>T	ENST00000332378.4	-	1	337	c.307C>A	c.(307-309)Ccg>Acg	p.P103T		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	103						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AAGGTGAGCGGCCGGCTGTAG	0.567																																																	0													75	75	75					21																	32253537		2203	4300	6503	SO:0001583	missense	0			AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.307C>A	21.37:g.32253537G>T	ENSP00000330720:p.Pro103Thr		A1L4I8	Missense_Mutation	SNP	pfam_KRTAP_PMG	p.P103T	ENST00000332378.4	37	c.307	CCDS13608.1	21	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680565	0.47886	.	.	ENSG00000182591	ENST00000332378	T	0.03386	3.95	5.25	5.25	0.73442	.	0.159743	0.39544	N	0.001327	T	0.17152	0.0412	M	0.81497	2.545	0.38158	D	0.938962	D	0.63046	0.992	P	0.62649	0.905	T	0.00371	-1.1782	10	0.59425	D	0.04	-5.6164	14.7737	0.69699	0.0:0.0:1.0:0.0	.	103	Q8IUC1	KR111_HUMAN	T	103	ENSP00000330720:P103T	ENSP00000330720:P103T	P	-	1	0	KRTAP11-1	31175408	0.999000	0.42202	0.604000	0.28916	0.406000	0.30931	4.338000	0.59316	2.652000	0.90054	0.650000	0.86243	CCG	KRTAP11-1	-	pfam_KRTAP_PMG	ENSG00000182591		0.567	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP11-1	HGNC	protein_coding	OTTHUMT00000128225.1	-	0	22	0	G			32253537	-1	tier1	-	no_errors	ENST00000332378	ensembl	human	known	74_37	missense	42.11	22	16	SNP	0.938	T	T	32253537	G	T	32253537	3	4	121	1	0	0	0	0	1	0	0	0	8544	1203	42	3	188	3	KRTAP11-1	21	32253537	Missense_Mutation	SNP	G	TCGA-LN-A5U5-01A-21D-A28B-09		32253537	15876358	75	31801											
PAFAH2	5051	genome.wustl.edu	37	chr1	26299081	26299081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaaggccaacatggccCgtaccataacctcctgccct	10	6	9	16	1	0	0	0	0	0	0	1	1	1	1	6	3	4	2	6	3	4	2			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:26299081C>T	ENST00000374282.3	-	10	1231	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	PAFAH2_ENST00000374284.1_Missense_Mutation_p.R351Q	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	351					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		CAACATGGCCCGTACCATAAC	0.532																																																	0													57	53	54					1																	26299081		2203	4300	6503	SO:0001583	missense	0			D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"platelet-activating factor acetylhydrolase 2 (40kD)"			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.1052G>A	1.37:g.26299081C>T	ENSP00000363400:p.Arg351Gln		D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote	p.R351Q	ENST00000374282.3	37	c.1052	CCDS270.1	1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416840	0.42918	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.54866	0.55;0.55	5.57	2.24	0.28232	.	0.336112	0.25777	N	0.028368	T	0.32346	0.0826	L	0.29908	0.895	0.26314	N	0.977778	B	0.13145	0.007	B	0.06405	0.002	T	0.12889	-1.0530	10	0.15066	T	0.55	-11.5114	5.8195	0.18520	0.0:0.5134:0.0:0.4866	.	351	Q99487	PAFA2_HUMAN	Q	351	ENSP00000363400:R351Q;ENSP00000363402:R351Q	ENSP00000363400:R351Q	R	-	2	0	PAFAH2	26171668	0.090000	0.21635	0.998000	0.56505	0.775000	0.43874	0.067000	0.14510	0.705000	0.31890	0.478000	0.44815	CGG	PAFAH2	-	pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote	ENSG00000158006		0.532	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH2	HGNC	protein_coding	OTTHUMT00000019544.1	-	0	61	0	C	NM_000437		26299081	-1	tier1	-	no_errors	ENST00000374282	ensembl	human	known	74_37	missense	39.68	38	25	SNP	0.963	T	T	26299081	C	T	26299081	3	4	122	1	0	0	0	0	1	0	0	0	11426	652	23	1	134	1	PAFAH2	1	26299081	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09		26299081	222951540	1	31802											
PTCH2	8643	genome.wustl.edu	37	chr1	45292310	45292310	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccgctggggtaggcgtgCaccccagcctggccggcctc	4	5	16	16	3	0	0	0	0	0	0	1	1	0	0	6	5	3	3	6	5	1	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:45292310C>T	ENST00000372192.3	-	18	2956	c.2826G>A	c.(2824-2826)gtG>gtA	p.V942V	PTCH2_ENST00000447098.2_Silent_p.V942V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	942					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGTAGGCGTGCACCCCAGCCT	0.667									Basal Cell Nevus syndrome																																								0													19	22	21					1																	45292310		2200	4299	6499	SO:0001819	synonymous_variant	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2826G>A	1.37:g.45292310C>T			O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.V942	ENST00000372192.3	37	c.2826	CCDS516.1	1																																																																																			PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000117425		0.667	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	-	0	42	0	C	NM_003738		45292310	-1	tier1	-	no_errors	ENST00000372192	ensembl	human	known	74_37	silent	26.67	33	12	SNP	0.999	T	T	45292310	C	T	45292310	2	4	122	1	0	0	0	0	0	0	0	1	12773	697	25	3		3	PTCH2	1	45292310	Silent	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	18993229	45292310	203958311	2	31803											
TTC39A	22996	genome.wustl.edu	37	chr1	51754605	51754605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtttgggatcaagtagtGgtcatatttaatcttctttt	8	18	10	5	1	4	0	2	0	2	0	4	1	4	1	0	3	0	2	0	3	4	8			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:51754605G>T	ENST00000447632.2	-	17	1672	c.1624C>A	c.(1624-1626)Cac>Aac	p.H542N	TTC39A_ENST00000371750.5_Missense_Mutation_p.H507N|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000451380.1_Missense_Mutation_p.H506N|TTC39A_ENST00000530004.1_Missense_Mutation_p.H150N|TTC39A_ENST00000413473.2_Missense_Mutation_p.H510N|TTC39A_ENST00000262675.7_Missense_Mutation_p.H479N			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	542								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						ATCAAGTAGTGGTCATATTTA	0.493																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											51	52	51					1																	51754605		1899	4115	6014	SO:0001583	missense	0			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.1624C>A	1.37:g.51754605G>T	ENSP00000393952:p.His542Asn		B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.H542N	ENST00000447632.2	37	c.1624		1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943818	0.92593	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750	T;T;T;T;T;T	0.64618	-0.11;0.96;0.96;0.96;0.96;0.96	5.75	5.75	0.90469	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	M	0.72118	2.19	0.80722	D	1	B;B;B;B;P	0.42375	0.307;0.204;0.33;0.204;0.778	B;B;B;B;B	0.42827	0.276;0.143;0.134;0.143;0.399	T	0.61564	-0.7037	10	0.12430	T	0.62	-27.5894	18.7237	0.91705	0.0:0.0:1.0:0.0	.	510;506;479;542;507	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9;G3XAF8	.;.;.;TT39A_HUMAN;.	N	150;542;510;479;506;507	ENSP00000431228:H150N;ENSP00000393952:H542N;ENSP00000406144:H510N;ENSP00000262675:H479N;ENSP00000397207:H506N;ENSP00000360815:H507N	ENSP00000262675:H479N	H	-	1	0	TTC39A	51527193	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.405000	0.97313	2.725000	0.93324	0.655000	0.94253	CAC	TTC39A	-	NULL	ENSG00000085831		0.493	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	-	0	61	0	G			51754605	-1	tier1	-	no_errors	ENST00000447632	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	51754605	G	T	51754605	3	4	122	1	0	0	0	0	1	0	0	0	16756	1348	47	3	225	3	TTC39A	1	51754605	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	6462295	51754605	197496016	3	31804											
DNTTIP2	30836	genome.wustl.edu	37	chr1	94338752	94338752	+	Missense_Mutation	SNP	T	T	C	0	1	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	tttttcaaaatcaggtgtaaTgacggctttctgcagaagct	11	14	9	7	1	3	2	2	1	1	1	3	2	3	2	0	2	2	4	0	2	4	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:94338752T>C	ENST00000436063.2	-	4	1882	c.1825A>G	c.(1825-1827)Att>Gtt	p.I609V	DNTTIP2_ENST00000460191.1_5'Flank	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	609					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)		TCAGGTGTAATGACGGCTTTC	0.289																																																	0													140	120	126					1																	94338752		1804	4069	5873	SO:0001583	missense	0			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.1825A>G	1.37:g.94338752T>C	ENSP00000411010:p.Ile609Val		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.I609V	ENST00000436063.2	37	c.1825	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040967	0.35989	.	.	ENSG00000067334	ENST00000436063	T	0.18338	2.22	5.82	1.09	0.20402	.	0.242919	0.40728	N	0.001021	T	0.05227	0.0139	L	0.40543	1.245	0.43187	D	0.995013	B	0.28378	0.209	B	0.25759	0.063	T	0.20571	-1.0271	10	0.51188	T	0.08	.	8.2642	0.31804	0.0:0.2948:0.0:0.7052	.	609	Q5QJE6	TDIF2_HUMAN	V	609	ENSP00000411010:I609V	ENSP00000411010:I609V	I	-	1	0	DNTTIP2	94111340	1.000000	0.71417	0.788000	0.31933	0.903000	0.53119	2.611000	0.46334	0.152000	0.19188	0.533000	0.62120	ATT	DNTTIP2	-	NULL	ENSG00000067334		0.289	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	-	0	55	0	T	NM_014597		94338752	-1	tier1	-	no_errors	ENST00000436063	ensembl	human	known	74_37	missense	24.62	49	16	SNP	0.636	C	C	94338752	T	C	94338752	3	2	122	1	0	0	0	0	1	0	0	0	4696	1464	51	4	461	4	DNTTIP2	1	94338752	Missense_Mutation	SNP	T	TCGA-LN-A5U6-01A-11D-A28B-09	42584147	94338752	154911869	4	31805											
RBM15	64783	genome.wustl.edu	37	chr1	110882727	110882728	+	Missense_Mutation	DNP	GC	GC	TT																															acgcgcgggcggccaagcatGccagaggccgcctggtgctc																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:110882727_110882728GC>TT	ENST00000369784.3	+	1	1600_1601	c.700_701GC>TT	c.(700-702)GCc>TTc	p.A234F	RBM15_ENST00000602849.1_Missense_Mutation_p.A234F|RBM15_ENST00000487146.2_Missense_Mutation_p.A234F|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	234	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)		GGCCAAGCATGCCAGAGGCCGC	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:0001583	missense	0			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	Exception_encountered	1.37:g.110882727_110882728delinsTT	ENSP00000358799:p.Ala234Phe	1430	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.A234S|p.A234V	ENST00000369784.3	37	c.700|c.701	CCDS822.1	1																																																																																			RBM15	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000162775		0.594	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	-	0	60|58	0	G|C	NM_022768		110882727|110882728	1	tier1	-	no_errors	ENST00000369784	ensembl	human	known	74_37	missense	32.10	55	26	SNP	1.000	T	TT	110882728	GC	TT	110882727	3	4	122	1	0	0	0	0	1	0	0	0	13161	1319	46	3	702	3	RBM15	1	110882727	Missense_Mutation	DNP	GC	TCGA-LN-A5U6-01A-11D-A28B-09	16543975	110882727	138367894	5	31806											
CSDE1	7812	genome.wustl.edu	37	chr1	115277064	115277064	+	Splice_Site	DEL	T	T	-																															tctcaaatttaacacttaccTtcatggcacaaactactccc																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:115277064delT	ENST00000358528.4	-	7	1007	c.581delA	c.(580-582)aag>ag	p.K194fs	CSDE1_ENST00000369530.1_Splice_Site_p.K209fs|CSDE1_ENST00000438362.2_Splice_Site_p.K240fs|CSDE1_ENST00000530886.1_Splice_Site_p.K64fs|CSDE1_ENST00000261443.5_Splice_Site_p.K163fs|CSDE1_ENST00000534699.1_Splice_Site_p.K194fs|CSDE1_ENST00000339438.6_Splice_Site_p.K163fs	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	194	CSD 3.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACACTTACCTTCATGGCACA	0.358																																																	0													72	73	73					1																	115277064		2203	4300	6503	SO:0001630	splice_region_variant	0				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.582+1A>-	1.37:g.115277064delT			A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Frame_Shift_Del	DEL	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot	p.K209fs	ENST00000358528.4	37	c.626	CCDS30812.1	1																																																																																			CSDE1	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot	ENSG00000009307		0.358	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1		0	34	0	T	NM_007158	Frame_Shift_Del	115277064	-1	tier1		no_errors	ENST00000369530	ensembl	human	known	74_37	frame_shift_del	16.67	10	2	DEL	1.000	-	-	115277064	T	-	115277064	8	5	122	1	0	1	0	1	0	0	1	0	3938	1623	56	0	1871	0	CSDE1	1	115277064	Splice_Site	DEL	T	TCGA-LN-A5U6-01A-11D-A28B-09	4394337	115277064	133973557	6	31807											
SYCP1	6847	genome.wustl.edu	37	chr1	115537630	115537630	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaaaagaagctgaaaagtTatttgtttaatttcagagaa	18	13	7	3	0	1	3	1	1	0	2	1	4	1	3	0	0	1	3	0	0	8	6			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:115537630T>A	ENST00000369522.3	+	32	3161	c.2921T>A	c.(2920-2922)tTa>tAa	p.L974*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.L974*|SYCP1_ENST00000477590.1_3'UTR	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	974					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)		GCTGAAAAGTTATTTGTTTAA	0.323																																																	0													32	36	35					1																	115537630		2199	4288	6487	SO:0001587	stop_gained	0			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.2921T>A	1.37:g.115537630T>A	ENSP00000358535:p.Leu974*		O14963|Q5VXJ6	Nonsense_Mutation	SNP	pfam_SCP-1	p.L974*	ENST00000369522.3	37	c.2921	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	T	38	6.692910	0.97768	.	.	ENSG00000198765	ENST00000369522;ENST00000369518	.	.	.	5.23	5.23	0.72850	.	0.084638	0.46758	D	0.000275	.	.	.	.	.	.	0.29804	N	0.832171	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.158	13.3352	0.60515	0.0:0.0:0.0:1.0	.	.	.	.	X	974	.	ENSP00000358531:L974X	L	+	2	0	SYCP1	115339153	0.337000	0.24766	0.920000	0.36463	0.451000	0.32288	4.828000	0.62730	1.961000	0.56991	0.374000	0.22700	TTA	SYCP1	-	NULL	ENSG00000198765		0.323	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	-	0	31	0	T	NM_003176		115537630	1	tier1	-	no_errors	ENST00000369518	ensembl	human	known	74_37	nonsense	18.52	22	5	SNP	0.605	A	A	115537630	T	A	115537630	4	1	122	1	0	0	0	0	0	1	0	0	15478	1764	61	5	3043	5	SYCP1	1	115537630	Nonsense_Mutation	SNP	T	TCGA-LN-A5U6-01A-11D-A28B-09	260566	115537630	133712991	7	31808											
NTRK1	4914	genome.wustl.edu	37	chr1	156837937	156837937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactgttcttgtgccctgcGctggctacagcgctgggagg	4	10	15	12	2	1	0	0	0	1	0	1	1	1	1	1	3	4	5	1	3	1	3	rs141021604		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:156837937G>A	ENST00000524377.1	+	5	511	c.470G>A	c.(469-471)cGc>cAc	p.R157H	NTRK1_ENST00000368196.3_Missense_Mutation_p.R157H|NTRK1_ENST00000358660.3_Missense_Mutation_p.R157H|NTRK1_ENST00000392302.2_Missense_Mutation_p.R127H	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	157	LRRCT.				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)	TGTGCCCTGCGCTGGCTACAG	0.647			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			G|||	1	0.000199681	8e-04	0	5008	,	,		17115	0		0	False		,,,				2504	0							Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0								G	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	60	66	64		380,470,470	-7.4	0.7	1	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	29,29,29	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign,benign,benign	127/761,157/791,157/797	156837937	4,13002	2203	4300	6503	SO:0001583	missense	0			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.470G>A	1.37:g.156837937G>A	ENSP00000431418:p.Arg157His		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.R157H	ENST00000524377.1	37	c.470	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204998	0.38905	4.54E-4	2.33E-4	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	5.21	-7.42	0.01388	Cysteine-rich flanking region, C-terminal (1);	1.272030	0.05401	N	0.540660	T	0.60702	0.2289	N	0.14661	0.345	0.32529	N	0.535196	B;B;B;B	0.14012	0.008;0.009;0.002;0.005	B;B;B;B	0.06405	0.002;0.001;0.0;0.001	T	0.10941	-1.0608	10	0.32370	T	0.25	.	4.6753	0.12708	0.3818:0.0:0.2956:0.3226	.	157;157;157;127	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	H	127;157;157;157	ENSP00000376120:R127H;ENSP00000357179:R157H;ENSP00000431418:R157H;ENSP00000351486:R157H	ENSP00000351486:R157H	R	+	2	0	NTRK1	155104561	0.001000	0.12720	0.659000	0.29680	0.995000	0.86356	-0.726000	0.04936	-1.584000	0.01636	0.462000	0.41574	CGC	NTRK1	-	smart_Cys-rich_flank_reg_C	ENSG00000198400		0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	-	0	54	0	G	NM_002529		156837937	1	tier1	rs141021604	no_errors	ENST00000524377	ensembl	human	known	74_37	missense	54.79	33	40	SNP	0.767	A	A	156837937	G	A	156837937	3	1	122	1	0	0	0	0	1	0	0	0	10745	1087	38	1	618	1	NTRK1	1	156837937	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	41300307	156837937	92412684	8	31809											
ARHGEF11	9826	genome.wustl.edu	37	chr1	156914188	156914188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgatcctccaggtcaggggtCcctcatggatcatttttctg	6	14	10	11	0	4	1	3	1	1	0	7	2	7	2	3	4	0	0	3	4	0	2			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:156914188C>T	ENST00000361409.2	-	30	3651	c.2909G>A	c.(2908-2910)gGa>gAa	p.G970E	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.G1010E|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.G386E|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	970	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					GGTCAGGGGTCCCTCATGGAT	0.498																																																	0													132	126	128					1																	156914188		2203	4300	6503	SO:0001583	missense	0			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.2909G>A	1.37:g.156914188C>T	ENSP00000354644:p.Gly970Glu		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain	p.G1010E	ENST00000361409.2	37	c.3029	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448232	0.84101	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	D;D;D	0.91351	-2.83;-2.83;-2.83	5.13	5.13	0.70059	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.52532	D	0.000064	D	0.96216	0.8766	M	0.91561	3.22	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	0.96702	0.9519	10	0.87932	D	0	-28.2944	18.3554	0.90356	0.0:1.0:0.0:0.0	.	386;970;1010	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	E	1010;970;386	ENSP00000357177:G1010E;ENSP00000354644:G970E;ENSP00000313470:G386E	ENSP00000313470:G386E	G	-	2	0	ARHGEF11	155180812	1.000000	0.71417	0.999000	0.59377	0.558000	0.35554	5.846000	0.69444	2.659000	0.90383	0.561000	0.74099	GGA	ARHGEF11	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000132694		0.498	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	-	0	46	0	C	NM_198236		156914188	-1	tier1	-	no_errors	ENST00000368194	ensembl	human	known	74_37	missense	37.50	25	15	SNP	1.000	T	T	156914188	C	T	156914188	3	4	122	1	0	0	0	0	1	0	0	0	896	855	30	3	1703	3	ARHGEF11	1	156914188	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	76251	156914188	92336433	9	31810											
TNN	63923	genome.wustl.edu	37	chr1	175054550	175054550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtttccaggtctgcaccCggggactgagtataagatca	9	11	11	10	1	2	2	1	1	1	1	3	3	3	3	2	3	1	3	2	3	2	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:175054550C>T	ENST00000239462.4	+	6	1357	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	415	Fibronectin type-III 2. {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)		p.P415R(1)		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)		GGTCTGCACCCGGGGACTGAG	0.602																																																	1	Substitution - Missense(1)	ovary(1)											54	47	50					1																	175054550		2203	4300	6503	SO:0001583	missense	0			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.1244C>T	1.37:g.175054550C>T	ENSP00000239462:p.Pro415Leu		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.P415L	ENST00000239462.4	37	c.1244	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883554	0.72410	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.69040	-0.37	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86863	0.6035	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.89151	0.3523	10	0.72032	D	0.01	.	19.5808	0.95467	0.0:1.0:0.0:0.0	.	415;415	B3KXB6;Q9UQP3	.;TENN_HUMAN	L	415	ENSP00000239462:P415L	ENSP00000239462:P415L	P	+	2	0	TNN	173321173	1.000000	0.71417	0.959000	0.39883	0.176000	0.22953	6.539000	0.73856	2.706000	0.92434	0.655000	0.94253	CCG	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0	76	0	C	XM_040527		175054550	1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	missense	19.75	65	16	SNP	1.000	T	T	175054550	C	T	175054550	3	4	122	1	0	0	0	0	1	0	0	0	16370	652	23	1	1262	1	TNN	1	175054550	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	18140362	175054550	74196071	10	31811											
CD46	4179	genome.wustl.edu	37	chr1	207930371	207930371	+	Missense_Mutation	SNP	A	A	T	1	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	atccctagatgcctgtgaggAgccaccaacatttgaagcta	12	9	9	11	0	0	3	0	2	0	1	1	4	1	4	4	1	4	1	4	1	4	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:207930371A>T	ENST00000358170.2	+	2	266	c.110A>T	c.(109-111)gAg>gTg	p.E37V	CD46_ENST00000360212.2_Missense_Mutation_p.E37V|CD46_ENST00000361067.1_Missense_Mutation_p.E37V|CD46_ENST00000367042.1_Missense_Mutation_p.E37V|CD46_ENST00000357714.1_Missense_Mutation_p.E37V|CD46_ENST00000367041.1_Missense_Mutation_p.E37V|CD46_ENST00000480003.1_Missense_Mutation_p.E37V|CD46_ENST00000367047.1_Intron|CD46_ENST00000322918.5_Missense_Mutation_p.E37V|CD46_ENST00000354848.1_Missense_Mutation_p.E37V|CD46_ENST00000441839.2_Missense_Mutation_p.E37V|CD46_ENST00000322875.4_Missense_Mutation_p.E37V|CD46_ENST00000469535.1_3'UTR	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	37	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GCCTGTGAGGAGCCACCAACA	0.413																																																	0													71	70	71					1																	207930371		2203	4300	6503	SO:0001583	missense	0			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.110A>T	1.37:g.207930371A>T	ENSP00000350893:p.Glu37Val		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E37V	ENST00000358170.2	37	c.110	CCDS1485.1	1	.	.	.	.	.	.	.	.	.	.	A	7.612	0.675021	0.14841	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	3.72	-7.45	0.01374	Complement control module (2);Sushi/SCR/CCP (3);	2.743750	0.01450	N	0.015440	T	0.31949	0.0813	N	0.04880	-0.145	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.21309	0.054;0.003;0.019;0.054;0.006;0.006;0.054;0.023;0.054;0.012;0.054;0.006;0.003;0.018	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.19946	0.025;0.004;0.015;0.027;0.007;0.011;0.027;0.021;0.027;0.009;0.027;0.011;0.003;0.027	T	0.19910	-1.0291	10	0.20046	T	0.44	.	1.7734	0.03016	0.4944:0.1554:0.1855:0.1647	.	37;37;37;37;37;37;37;37;37;37;37;37;37;37	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	V	37	ENSP00000350893:E37V;ENSP00000346912:E37V;ENSP00000314664:E37V;ENSP00000356009:E37V;ENSP00000356008:E37V;ENSP00000350346:E37V;ENSP00000313875:E37V;ENSP00000413543:E37V;ENSP00000354358:E37V;ENSP00000353342:E37V;ENSP00000418471:E37V	ENSP00000313875:E37V	E	+	2	0	CD46	205996994	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.424000	0.02448	-1.946000	0.01035	-1.642000	0.00770	GAG	CD46	-	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117335		0.413	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3	-	0	89	0	A	NM_172361		207930371	1	tier1	-	no_errors	ENST00000322875	ensembl	human	known	74_37	missense	32.77	80	39	SNP	0.000	T	T	207930371	A	T	207930371	3	4	122	1	0	0	0	0	1	0	0	0	3025	304	11	5	116	5	CD46	1	207930371	Missense_Mutation	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09	32875821	207930371	41320250	11	31812											
FMN2	56776	genome.wustl.edu	37	chr1	240370785	240370785	+	Silent	SNP	G	G	T	0	0	1	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	ggcatgacagtgcctactctGcccagtacagccattcccca	9	8	8	16	0	1	1	0	1	1	0	2	1	2	1	5	1	5	2	5	1	2	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr1:240370785G>T	ENST00000319653.9	+	5	2903	c.2673G>T	c.(2671-2673)ctG>ctT	p.L891L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	891	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)			TGCCTACTCTGCCCAGTACAG	0.657																																																	0													64	65	64					1																	240370785		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2673G>T	1.37:g.240370785G>T			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.L891	ENST00000319653.9	37	c.2673	CCDS31069.2	1																																																																																			FMN2	-	smart_FH2_Formin	ENSG00000155816		0.657	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	26	0	G	XM_371352		240370785	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	25.93	40	14	SNP	0.763	T	T	240370785	G	T	240370785	2	4	122	1	0	0	0	0	0	0	0	1	5972	1306	46	3		3	FMN2	1	240370785	Silent	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	32440414	240370785	8879836	12	31813											
ADAM17	6868	genome.wustl.edu	37	chr2	9630607	9630607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaaagggtttgataatgCgaaccgatgcagaatccatg	14	8	12	7	2	0	2	0	1	0	1	1	5	1	3	2	2	3	2	2	2	4	2	rs147275585		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:9630607C>T	ENST00000310823.3	-	19	2356	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	725					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)		TTTGATAATGCGAACCGATGC	0.532																																																	0								C	HIS/ARG	0,4406		0,0,2203	64	60	61		2174	5.5	1	2	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ADAM17	NM_003183.4	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	725/825	9630607	2,13004	2203	4300	6503	SO:0001583	missense	0			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.2174G>A	2.37:g.9630607C>T	ENSP00000309968:p.Arg725His		O60226	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.R725H	ENST00000310823.3	37	c.2174	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866144	0.71949	0.0	2.33E-4	ENSG00000151694	ENST00000310823	T	0.24538	1.85	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.46911	-0.9157	10	0.52906	T	0.07	.	19.3715	0.94490	0.0:1.0:0.0:0.0	.	444;725;725	Q53RS1;B2RNB2;P78536	.;.;ADA17_HUMAN	H	725	ENSP00000309968:R725H	ENSP00000309968:R725H	R	-	2	0	ADAM17	9548058	1.000000	0.71417	0.975000	0.42487	0.085000	0.17905	5.749000	0.68704	2.570000	0.86706	0.456000	0.33151	CGC	ADAM17	-	NULL	ENSG00000151694		0.532	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	-	0	53	0	C			9630607	-1	tier1	rs147275585	no_errors	ENST00000310823	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	T	T	9630607	C	T	9630607	3	4	122	1	0	0	0	0	1	0	0	0	238	768	27	1	304	1	ADAM17	2	9630607	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09		9630607	233568766	13	31814											
C2orf71	388939	genome.wustl.edu	37	chr2	29294078	29294078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggcttggctgggcaggtCtgtaagaggagggaaggctc	8	7	20	6	0	1	1	0	0	1	1	2	3	1	3	0	8	0	5	0	8	2	2			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:29294078C>T	ENST00000331664.5	-	1	3049	c.3050G>A	c.(3049-3051)aGa>aAa	p.R1017K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1017	Pro-rich.				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						CTGGGCAGGTCTGTAAGAGGA	0.657																																																	0													29	34	33					2																	29294078		1955	4150	6105	SO:0001583	missense	0				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.3050G>A	2.37:g.29294078C>T	ENSP00000332809:p.Arg1017Lys			Missense_Mutation	SNP	NULL	p.R1017K	ENST00000331664.5	37	c.3050	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220832	0.39201	.	.	ENSG00000179270	ENST00000331664	T	0.26518	1.73	5.29	4.42	0.53409	.	0.341064	0.27773	N	0.017914	T	0.26629	0.0651	M	0.68952	2.095	0.09310	N	1	B	0.28783	0.222	B	0.26202	0.067	T	0.18555	-1.0333	10	0.46703	T	0.11	-3.5249	9.6623	0.39962	0.0:0.7844:0.1408:0.0748	.	1017	A6NGG8	CB071_HUMAN	K	1017	ENSP00000332809:R1017K	ENSP00000332809:R1017K	R	-	2	0	C2orf71	29147582	0.124000	0.22315	0.003000	0.11579	0.410000	0.31052	2.100000	0.41777	1.224000	0.43551	0.491000	0.48974	AGA	C2orf71	-	NULL	ENSG00000179270		0.657	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	-	0	26	0	C	NM_001029883		29294078	-1	tier1	-	no_errors	ENST00000331664	ensembl	human	known	74_37	missense	22.73	34	10	SNP	0.127	T	T	29294078	C	T	29294078	3	4	122	1	0	0	0	0	1	0	0	0	2198	913	32	3	824	3	C2orf71	2	29294078	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	19663471	29294078	213905295	14	31815											
FOXN2	3344	genome.wustl.edu	37	chr2	48602081	48602081	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaagcctcttcctcttaaAacagcattgcaaaaaaagag	17	8	7	9	0	2	2	0	0	2	2	3	3	3	2	2	0	4	2	2	0	6	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:48602081A>C	ENST00000340553.3	+	7	1056	c.795A>C	c.(793-795)aaA>aaC	p.K265N		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	265					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)			TTCCTCTTAAAACAGCATTGC	0.378																																																	0													53	51	51					2																	48602081		2203	4300	6503	SO:0001583	missense	0				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.795A>C	2.37:g.48602081A>C	ENSP00000343633:p.Lys265Asn		Q15769|Q6P4Q2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.K265N	ENST00000340553.3	37	c.795	CCDS1838.1	2	.	.	.	.	.	.	.	.	.	.	A	10.51	1.371297	0.24771	.	.	ENSG00000170802	ENST00000304367;ENST00000340553	D	0.93859	-3.3	5.08	3.92	0.45320	.	0.184551	0.47852	D	0.000220	D	0.92554	0.7635	L	0.38838	1.175	0.44899	D	0.997913	D	0.76494	0.999	D	0.78314	0.991	D	0.88741	0.3243	10	0.22109	T	0.4	.	5.385	0.16213	0.6376:0.0:0.3624:0.0	.	265	P32314	FOXN2_HUMAN	N	174;265	ENSP00000343633:K265N	ENSP00000305685:K174N	K	+	3	2	FOXN2	48455585	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.671000	0.46842	1.047000	0.40274	0.533000	0.62120	AAA	FOXN2	-	NULL	ENSG00000170802		0.378	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN2	HGNC	protein_coding	OTTHUMT00000251240.3	-	0	31	0	A	NM_002158		48602081	1	tier1	-	no_errors	ENST00000340553	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.998	C	C	48602081	A	C	48602081	3	2	122	1	0	0	0	0	1	0	0	0	6044	11	1	4	813	4	FOXN2	2	48602081	Missense_Mutation	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09	19308003	48602081	194597292	15	31816											
REG1B	5968	genome.wustl.edu	37	chr2	79312718	79312718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggacccactactccagtgCcagcggcggttctagatgga	9	7	13	12	2	1	1	0	0	1	1	2	3	2	3	3	4	3	1	3	4	2	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:79312718C>A	ENST00000305089.3	-	5	413	c.333G>T	c.(331-333)tgG>tgT	p.W111C		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	111	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TACTCCAGTGCCAGCGGCGGT	0.547																																																	0													74	70	72					2																	79312718		2203	4300	6503	SO:0001583	missense	0				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"lithostathine 1 beta", "secretory pancreatic stone protein 2"	167771	"regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.333G>T	2.37:g.79312718C>A	ENSP00000303206:p.Trp111Cys			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.W111C	ENST00000305089.3	37	c.333	CCDS1963.1	2	.	.	.	.	.	.	.	.	.	.	c	15.46	2.839783	0.51057	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.11930	2.73;2.73	3.05	3.05	0.35203	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.36740	N	0.002434	T	0.47414	0.1444	H	0.96691	3.865	0.27902	N	0.938944	D	0.89917	1.0	D	0.97110	1.0	T	0.51228	-0.8732	10	0.62326	D	0.03	.	9.7073	0.40222	0.0:1.0:0.0:0.0	.	111	P48304	REG1B_HUMAN	C	62;111	ENSP00000387410:W62C;ENSP00000303206:W111C	ENSP00000303206:W111C	W	-	3	0	REG1B	79166226	0.533000	0.26354	0.078000	0.20375	0.511000	0.34104	1.286000	0.33273	1.689000	0.51079	0.491000	0.48974	TGG	REG1B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000172023		0.547	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1B	HGNC	protein_coding	OTTHUMT00000252292.2	-	0	31	0	C	NM_006507		79312718	-1	tier1	-	no_errors	ENST00000305089	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.163	A	A	79312718	C	A	79312718	3	1	122	1	0	0	0	0	1	0	0	0	13256	740	26	3	175	3	REG1B	2	79312718	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	30710637	79312718	163886655	16	31817											
GCC2	9648	genome.wustl.edu	37	chr2	109087996	109087996	+	Silent	SNP	G	G	A																															cttcagttaatggttgaagaGcaagataatttaaataaact																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:109087996G>A	ENST00000309863.6	+	6	2925	c.2211G>A	c.(2209-2211)gaG>gaA	p.E737E		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	737					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						TGGTTGAAGAGCAAGATAATT	0.294																																																	0													78	97	91					2																	109087996		2196	4297	6493	SO:0001819	synonymous_variant	0			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.2211G>A	2.37:g.109087996G>A			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.E737	ENST00000309863.6	37	c.2211	CCDS33268.1	2																																																																																			GCC2	-	NULL	ENSG00000135968		0.294	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	-	0	22	0	G	NM_014635		109087996	1	tier1	-	no_errors	ENST00000309863	ensembl	human	known	74_37	silent	34.62	17	9	SNP	0.446	A	A	109087996	G	A	109087996	2	1	122	1	0	0	0	0	0	0	0	1	6311	962	34	3		3	GCC2	2	109087996	Silent	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	29775278	109087996	134111377	17	31818	116	2									
GCC2	9648	genome.wustl.edu	37	chr2	109087999	109087999	+	Missense_Mutation	SNP	A	A	T																															cagttaatggttgaagagcaAgataatttaaataaactgct																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:109087999A>T	ENST00000309863.6	+	6	2928	c.2214A>T	c.(2212-2214)caA>caT	p.Q738H		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	738					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						TTGAAGAGCAAGATAATTTAA	0.299																																																	0													76	94	88					2																	109087999		2196	4297	6493	SO:0001583	missense	0			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.2214A>T	2.37:g.109087999A>T	ENSP00000307939:p.Gln738His		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.Q738H	ENST00000309863.6	37	c.2214	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	A	10.19	1.283257	0.23392	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.31510	1.49	5.5	3.14	0.36123	.	0.696409	0.12175	N	0.492670	T	0.16300	0.0392	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.24541	0.054	T	0.21586	-1.0241	10	0.33141	T	0.24	.	9.5658	0.39398	0.7968:0.0:0.2032:0.0	.	738	Q8IWJ2	GCC2_HUMAN	H	738;701;482	ENSP00000307939:Q738H	ENSP00000307939:Q738H	Q	+	3	2	GCC2	108454431	0.996000	0.38824	0.978000	0.43139	0.781000	0.44180	2.588000	0.46137	1.027000	0.39758	0.528000	0.53228	CAA	GCC2	-	NULL	ENSG00000135968		0.299	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	-	0	25	0	A	NM_014635		109087999	1	tier1	-	no_errors	ENST00000309863	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.530	T	T	109087999	A	T	109087999	3	4	122	1	0	0	0	0	1	0	0	0	6311	69	3	5	2236	5	GCC2	2	109087999	Missense_Mutation	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09	3	109087999	134111374	18	31819	116	2									
CCDC115	84317	genome.wustl.edu	37	chr2	131099484	131099484	+	Missense_Mutation	SNP	T	T	A	0	1	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	ccctaccgacttggcgcccaTcgcgtagcgagccttggcga	6	7	12	16	6	0	0	0	0	0	0	1	3	0	0	4	2	3	1	4	2	2	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:131099484T>A	ENST00000259229.2	-	2	368	c.145A>T	c.(145-147)Atg>Ttg	p.M49L	CCDC115_ENST00000409127.1_Missense_Mutation_p.M44L|IMP4_ENST00000259239.3_5'Flank|IMP4_ENST00000409935.1_5'Flank|CCDC115_ENST00000437688.2_Missense_Mutation_p.M44L	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	49						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)					TTGGCGCCCATCGCGTAGCGA	0.672																																																	0													38	41	40					2																	131099484		2203	4300	6503	SO:0001583	missense	0			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.145A>T	2.37:g.131099484T>A	ENSP00000259229:p.Met49Leu		B4DJ47|Q9BR88	Missense_Mutation	SNP	NULL	p.M49L	ENST00000259229.2	37	c.145	CCDS2159.1	2	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993007	0.54041	.	.	ENSG00000136710	ENST00000259229;ENST00000409127;ENST00000437688	D;D;D	0.95035	-3.59;-3.59;-3.59	4.81	4.81	0.61882	.	0.043330	0.85682	D	0.000000	D	0.95462	0.8526	L	0.58583	1.82	0.34677	D	0.724351	D;P;P;P	0.53151	0.958;0.736;0.942;0.579	P;B;D;B	0.67231	0.699;0.432;0.95;0.23	D	0.95741	0.8783	10	0.26408	T	0.33	-16.3201	10.946	0.47301	0.0:0.0:0.0:1.0	.	44;49;49;44	B4DJ47;F8WCZ3;Q96NT0;B8ZZ99	.;.;CC115_HUMAN;.	L	49;44;44	ENSP00000259229:M49L;ENSP00000387301:M44L;ENSP00000399756:M44L	ENSP00000259229:M49L	M	-	1	0	CCDC115	130815954	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	2.534000	0.45676	2.157000	0.67596	0.533000	0.62120	ATG	CCDC115	-	NULL	ENSG00000136710		0.672	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC115	HGNC	protein_coding	OTTHUMT00000254524.2	-	0	22	0	T	NM_032357		131099484	-1	tier1	-	no_errors	ENST00000442217	ensembl	human	known	74_37	missense	40.43	28	19	SNP	1.000	A	A	131099484	T	A	131099484	3	1	122	1	0	0	0	0	1	0	0	0	2759	1435	50	5	413	5	CCDC115	2	131099484	Missense_Mutation	SNP	T	TCGA-LN-A5U6-01A-11D-A28B-09	22011485	131099484	112099889	19	31820											
ZEB2	9839	genome.wustl.edu	37	chr2	145156713	145156713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	aaattcctgaggaaggcccaCagcaatggaaattttcagca	15	8	9	9	0	1	1	1	1	0	0	2	3	2	3	2	3	2	2	2	3	4	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:145156713C>G	ENST00000558170.2	-	8	3225	c.2041G>C	c.(2041-2043)Gtg>Ctg	p.V681L	ZEB2_ENST00000539609.3_Missense_Mutation_p.V657L|ZEB2_ENST00000303660.4_Missense_Mutation_p.V681L|ZEB2_ENST00000409487.3_Missense_Mutation_p.V681L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	681					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGAAGGCCCACAGCAATGGAA	0.468																																					Melanoma(33;1235 1264 5755 16332)												0													109	116	113					2																	145156713		2203	4300	6503	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2041G>C	2.37:g.145156713C>G	ENSP00000454157:p.Val681Leu		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.V681L	ENST00000558170.2	37	c.2041	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648473	0.67358	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	D;D;D;D	0.92545	-1.61;-1.61;-1.61;-3.06	5.51	5.51	0.81932	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95338	0.8487	L	0.61387	1.9	0.80722	D	1	P;D;D;D	0.58970	0.77;0.984;0.984;0.984	P;D;D;D	0.68192	0.514;0.956;0.956;0.956	D	0.94816	0.7983	10	0.49607	T	0.09	-10.4783	19.4178	0.94709	0.0:1.0:0.0:0.0	.	657;546;680;681	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	L	657;681;681;681	ENSP00000443792:V657L;ENSP00000302501:V681L;ENSP00000386854:V681L;ENSP00000395496:V681L	ENSP00000302501:V681L	V	-	1	0	ZEB2	144873183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.601000	0.87937	0.655000	0.94253	GTG	ZEB2	-	superfamily_Homeodomain-like,smart_Homeobox_dom	ENSG00000169554		0.468	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	-	0	72	0	C	NM_014795		145156713	-1	tier1	-	no_errors	ENST00000303660	ensembl	human	known	74_37	missense	55.17	39	48	SNP	1.000	G	G	145156713	C	G	145156713	3	3	122	1	0	0	0	0	1	0	0	0	17672	478	17	5	1615	5	ZEB2	2	145156713	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	14057229	145156713	98042660	20	31821											
RBM43	375287	genome.wustl.edu	37	chr2	152108087	152108088	+	Frame_Shift_Ins	INS	-	-	T																															actgaagcttaaactcgggaINSttttttttttcaggtctttt																								rs142934811		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:152108087_152108088insT	ENST00000331426.5	-	4	557_558	c.406_407insA	c.(406-408)atcfs	p.I136fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	136							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I136fs*4(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TAAACTCGGGATTTTTTTTTTC	0.386																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"RNA binding motif (RRM) containing"	24790	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 38"	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.407dupA	2.37:g.152108097_152108097dupT	ENSP00000331211:p.Ile136fs		B2RMT5	Frame_Shift_Ins	INS	pfscan_RRM_dom	p.I136fs	ENST00000331426.5	37	c.407_406	CCDS2191.1	2																																																																																			RBM43	-	NULL	ENSG00000184898		0.386	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM43	HGNC	protein_coding	OTTHUMT00000254816.2		0	34	0	-	NM_198557		152108088	-1	tier1		no_errors	ENST00000331426	ensembl	human	known	74_37	frame_shift_ins	5.00	38	2	INS	0.964:0.959	T	T	152108088	-	T	152108087	7	5	122	1	0	1	1	0	0	0	0	0	13182	333	12	0	670	0	RBM43	2	152108087	Frame_Shift_Ins	INS	-	TCGA-LN-A5U6-01A-11D-A28B-09	6951374	152108087	91091286	21	31822											
SCN1A	6323	genome.wustl.edu	37	chr2	166872165	166872165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttcttcaggttccactaCgggctgttcttctacaggtg	6	15	10	10	1	4	0	1	0	3	0	5	0	5	0	1	3	2	4	1	3	2	7	rs146374754		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:166872165C>T	ENST00000303395.4	-	17	3501	c.3502G>A	c.(3502-3504)Gta>Ata	p.V1168I	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1157I|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1140I|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.V1168I			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1168					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)	GGTTCCACTACGGGCTGTTCT	0.413																																																	0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	145	135	138		3502,3418,3502,3469	3.6	0.8	2	dbSNP_134	138	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	29,29,29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	1168/2010,1140/1982,1168/2010,1157/1999	166872165	1,13003	2203	4299	6502	SO:0001583	missense	0			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.3502G>A	2.37:g.166872165C>T	ENSP00000303540:p.Val1168Ile		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.V1168I	ENST00000303395.4	37	c.3502	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	13.61	2.290024	0.40494	0.0	1.16E-4	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.42	3.63	0.41609	Sodium ion transport-associated (1);	0.251153	0.27686	N	0.018261	T	0.72645	0.3486	L	0.38692	1.165	0.23293	N	0.997963	P;B;P	0.36712	0.566;0.003;0.484	B;B;B	0.37267	0.124;0.003;0.245	T	0.58567	-0.7614	10	0.18710	T	0.47	.	9.3209	0.37964	0.0:0.7803:0.0:0.2197	.	1157;1140;1168	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	I	1168;1168;1157;1140	ENSP00000407030:V1168I;ENSP00000303540:V1168I;ENSP00000364554:V1157I;ENSP00000386312:V1140I	ENSP00000303540:V1168I	V	-	1	0	SCN1A	166580411	1.000000	0.71417	0.812000	0.32479	0.893000	0.52053	2.644000	0.46613	0.668000	0.31126	-0.373000	0.07131	GTA	SCN1A	-	pfam_Na_trans_assoc	ENSG00000144285		0.413	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0	55	0	C	NM_006920		166872165	-1	tier1	rs146374754	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.737	T	T	166872165	C	T	166872165	3	4	122	1	0	0	0	0	1	0	0	0	13959	536	19	1	2567	1	SCN1A	2	166872165	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	14764078	166872165	76327208	22	31823											
ITGA6	3655	genome.wustl.edu	37	chr2	173338917	173338917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctgcacatctcctccctGagcacatattcgatggagaa	11	10	8	12	1	2	2	0	1	2	1	5	4	3	2	2	1	2	2	2	1	2	2			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:173338917G>C	ENST00000264106.6	+	7	1230	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	ITGA6_ENST00000264107.7_Missense_Mutation_p.E304Q|ITGA6_ENST00000375221.2_Missense_Mutation_p.E343Q|ITGA6_ENST00000343713.4_Missense_Mutation_p.E299Q|ITGA6_ENST00000409532.1_Missense_Mutation_p.E185Q|ITGA6_ENST00000409080.1_Missense_Mutation_p.E304Q			P23229	ITA6_HUMAN	integrin, alpha 6	343					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)			TCTCCTCCCTGAGCACATATT	0.483																																																	0													141	129	133					2																	173338917		2203	4300	6503	SO:0001583	missense	0				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.1027G>C	2.37:g.173338917G>C	ENSP00000264106:p.Glu343Gln		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E343Q	ENST00000264106.6	37	c.1027		2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987332	0.93106	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.02;-0.36;-0.39;-0.38;-0.37;-0.36;-0.39;-0.37	5.36	5.36	0.76844	.	0.047619	0.85682	D	0.000000	T	0.72763	0.3501	N	0.11789	0.175	0.58432	D	0.999999	P;D;D	0.76494	0.73;0.999;0.998	B;D;D	0.72075	0.352;0.976;0.959	T	0.75422	-0.3323	10	0.39692	T	0.17	.	19.0937	0.93240	0.0:0.0:1.0:0.0	.	299;304;304	P23229-4;G5E9H1;P23229-2	.;.;.	Q	190;185;304;343;343;299;304;343;299	ENSP00000413470:E190Q;ENSP00000386614:E185Q;ENSP00000264107:E304Q;ENSP00000264106:E343Q;ENSP00000364369:E343Q;ENSP00000341078:E299Q;ENSP00000386896:E304Q;ENSP00000406694:E343Q;ENSP00000394169:E299Q	ENSP00000264106:E343Q	E	+	1	0	ITGA6	173047163	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	9.869000	0.99810	2.505000	0.84491	0.655000	0.94253	GAG	ITGA6	-	NULL	ENSG00000091409		0.483	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding		-	0	107	0	G			173338917	1	tier1	-	no_errors	ENST00000264106	ensembl	human	known	74_37	missense	46.19	318	273	SNP	1.000	C	C	173338917	G	C	173338917	3	2	122	1	0	0	0	0	1	0	0	0	7907	1291	45	5	932	5	ITGA6	2	173338917	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	6466752	173338917	69860456	23	31824											
TNS1	7145	genome.wustl.edu	37	chr2	218679706	218679706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacttcactttagcccgcGtctccgggctgttgtctaaa	8	12	8	13	3	3	0	1	0	2	0	4	0	3	0	2	1	2	2	2	1	4	5	rs374445594		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:218679706G>A	ENST00000171887.4	-	25	4798	c.4346C>T	c.(4345-4347)aCg>aTg	p.T1449M	TNS1_ENST00000419504.1_Missense_Mutation_p.T1436M|TNS1_ENST00000430930.1_Missense_Mutation_p.T1428M	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1449					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)		TTTAGCCCGCGTCTCCGGGCT	0.502																																																	0													63	57	59					2																	218679706		2203	4300	6503	SO:0001583	missense	0			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.4346C>T	2.37:g.218679706G>A	ENSP00000171887:p.Thr1449Met		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.T1449M	ENST00000171887.4	37	c.4346	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840632	0.51057	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.36	5.36	0.76844	.	0.280338	0.39274	N	0.001403	T	0.74764	0.3759	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.973;0.997;0.924	T	0.75878	-0.3162	10	0.72032	D	0.01	.	19.2909	0.94098	0.0:0.0:1.0:0.0	.	1449;1428;1436	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	M	1449;587;1436;1428	ENSP00000171887:T1449M;ENSP00000394171:T587M;ENSP00000408724:T1436M;ENSP00000406016:T1428M	ENSP00000171887:T1449M	T	-	2	0	TNS1	218387951	0.997000	0.39634	0.960000	0.40013	0.914000	0.54420	2.473000	0.45145	2.797000	0.96272	0.563000	0.77884	ACG	TNS1	-	NULL	ENSG00000079308		0.502	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	-	0	43	0	G	NM_022648		218679706	-1	tier1	-	no_errors	ENST00000171887	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.963	A	A	218679706	G	A	218679706	3	1	122	1	0	0	0	0	1	0	0	0	16390	1145	40	1	897	1	TNS1	2	218679706	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	45340789	218679706	24519667	24	31825											
DOCK10	55619	genome.wustl.edu	37	chr2	225710010	225710010	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgagaagctatctgatcGtgtttcatcagaggaagcca	11	12	10	8	1	4	3	2	2	2	2	5	5	4	4	1	1	2	2	1	1	3	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:225710010G>C	ENST00000258390.7	-	21	2458	c.2391C>G	c.(2389-2391)caC>caG	p.H797Q	DOCK10_ENST00000409592.3_Missense_Mutation_p.H791Q	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	797	DHR-1.				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)		CTATCTGATCGTGTTTCATCA	0.373																																																	0													73	64	67					2																	225710010		1884	4122	6006	SO:0001583	missense	0			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.2391C>G	2.37:g.225710010G>C	ENSP00000258390:p.His797Gln		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H797Q	ENST00000258390.7	37	c.2391	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296009	0.23650	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.13307	2.6;2.6	5.43	-1.29	0.09288	.	0.382234	0.31624	N	0.007332	T	0.08358	0.0208	N	0.26042	0.785	0.26857	N	0.968039	B;B	0.26602	0.154;0.093	B;B	0.28232	0.087;0.087	T	0.18618	-1.0331	10	0.62326	D	0.03	.	6.8183	0.23843	0.548:0.1184:0.3336:0.0	.	797;791	Q96BY6;B3FL70	DOC10_HUMAN;.	Q	791;797	ENSP00000386694:H791Q;ENSP00000258390:H797Q	ENSP00000258390:H797Q	H	-	3	2	DOCK10	225418254	0.996000	0.38824	0.759000	0.31340	0.555000	0.35460	0.462000	0.21956	-0.449000	0.07117	-2.048000	0.00412	CAC	DOCK10	-	NULL	ENSG00000135905		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	-	0	38	0	G			225710010	-1	tier1	-	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.982	C	C	225710010	G	C	225710010	3	2	122	1	0	0	0	0	1	0	0	0	4699	1136	40	5	4313	5	DOCK10	2	225710010	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	7030304	225710010	17489363	25	31826											
TRIP12	9320	genome.wustl.edu	37	chr2	230693989	230693989	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggtgagggggaagacccCttgcctctaacaaagctaaa	14	7	11	9	0	1	2	0	1	1	1	1	3	1	3	3	3	3	1	3	3	6	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr2:230693989C>G	ENST00000283943.5	-	7	1404	c.1226G>C	c.(1225-1227)aGg>aCg	p.R409T	TRIP12_ENST00000389045.3_Missense_Mutation_p.R112T|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.R457T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	409					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)		GGGAAGACCCCTTGCCTCTAA	0.403																																																	0													69	69	69					2																	230693989		2203	4300	6503	SO:0001583	missense	0			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.1226G>C	2.37:g.230693989C>G	ENSP00000283943:p.Arg409Thr		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.R409T	ENST00000283943.5	37	c.1226	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846052	0.91277	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.51325	0.75;1.08;0.71	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.54601	0.967;0.967;0.967;0.967	P;P;P;P	0.60789	0.879;0.879;0.879;0.879	T	0.71234	-0.4653	10	0.87932	D	0	.	19.5711	0.95419	0.0:1.0:0.0:0.0	.	415;112;457;409	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	T	409;112;457	ENSP00000283943:R409T;ENSP00000373697:R112T;ENSP00000373696:R457T	ENSP00000283943:R409T	R	-	2	0	TRIP12	230402233	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.304000	0.78882	2.637000	0.89404	0.557000	0.71058	AGG	TRIP12	-	NULL	ENSG00000153827		0.403	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	-	0	13	0	C	NM_004238		230693989	-1	tier1	-	no_errors	ENST00000283943	ensembl	human	known	74_37	missense	27.27	24	9	SNP	1.000	G	G	230693989	C	G	230693989	3	3	122	1	0	0	0	0	1	0	0	0	16604	681	24	5	4892	5	TRIP12	2	230693989	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	4983979	230693989	12505384	26	31827											
TGFBR2	7048	genome.wustl.edu	37	chr3	30713299	30713299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccggcaagacgcggaaGctcatggagttcagcgagca	13	4	14	10	4	2	1	2	0	0	1	2	5	2	3	1	3	4	4	1	3	3	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:30713299G>A	ENST00000295754.5	+	4	1006	c.624G>A	c.(622-624)aaG>aaA	p.K208K	TGFBR2_ENST00000359013.4_Silent_p.K233K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	208					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|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 II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGACGCGGAAGCTCATGGAGT	0.537																																																	0													73	60	64					3																	30713299		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.624G>A	3.37:g.30713299G>A			B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.K233	ENST00000295754.5	37	c.699	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2	ENSG00000163513		0.537	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0	27	0	G			30713299	1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.938	A	A	30713299	G	A	30713299	2	1	122	1	0	0	0	0	0	0	0	1	15869	962	34	3		3	TGFBR2	3	30713299	Silent	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09		30713299	167309131	27	31828											
NKTR	4820	genome.wustl.edu	37	chr3	42659117	42659117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaaaaacatgcaaaaaCttcctttgcttgtgctcagg	12	12	7	10	0	1	0	1	0	0	0	3	0	3	0	2	1	5	3	2	1	4	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:42659117C>G	ENST00000232978.8	+	3	302	c.114C>G	c.(112-114)aaC>aaG	p.N38K	RP4-613B23.1_ENST00000445452.1_RNA|NKTR_ENST00000442970.1_Missense_Mutation_p.N38K|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	38	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)		CATGCAAAAACTTCCTTTGCT	0.333																																																	0													141	126	131					3																	42659117		2203	4298	6501	SO:0001583	missense	0				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.114C>G	3.37:g.42659117C>G	ENSP00000232978:p.Asn38Lys			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.N38K	ENST00000232978.8	37	c.114	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636640	0.67130	.	.	ENSG00000114857	ENST00000232978;ENST00000442970;ENST00000445842	T;T;T	0.32753	1.44;1.44;1.44	5.45	3.62	0.41486	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	H	0.99182	4.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	T	0.79364	-0.1834	10	0.87932	D	0	-24.4646	10.0892	0.42436	0.0:0.7832:0.0:0.2168	.	38;38	P30414;A8K7K2	NKTR_HUMAN;.	K	38	ENSP00000232978:N38K;ENSP00000390259:N38K;ENSP00000408660:N38K	ENSP00000232978:N38K	N	+	3	2	NKTR	42634121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.755000	0.47540	1.429000	0.47314	0.655000	0.94253	AAC	NKTR	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000114857		0.333	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	-	0	43	0	C	NM_005385		42659117	1	tier1	-	no_errors	ENST00000232978	ensembl	human	known	74_37	missense	50.00	18	18	SNP	1.000	G	G	42659117	C	G	42659117	3	3	122	1	0	0	0	0	1	0	0	0	10487	564	20	5	120	5	NKTR	3	42659117	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	11945818	42659117	155363313	28	31829											
MORC1	27136	genome.wustl.edu	37	chr3	108751662	108751662	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggcaagactctccatttAagacaaagatctgacaatca	17	8	7	9	0	3	4	1	1	2	3	4	5	3	4	1	1	0	1	1	1	5	2			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:108751662A>C	ENST00000483760.1	-	16	1513	c.1470T>G	c.(1468-1470)ctT>ctG	p.L490L	MORC1_ENST00000232603.5_Silent_p.L490L					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCTCCATTTAAGACAAAGAT	0.333																																																	0													53	55	55					3																	108751662		2203	4292	6495	SO:0001819	synonymous_variant	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1470T>G	3.37:g.108751662A>C				Silent	SNP	pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.L490	ENST00000483760.1	37	c.1470		3																																																																																			MORC1	-	pfam_Znf_CW,pfscan_Znf_CW	ENSG00000114487		0.333	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	-	0	29	0	A			108751662	-1	tier1	-	no_errors	ENST00000232603	ensembl	human	known	74_37	silent	16.00	42	8	SNP	0.998	C	C	108751662	A	C	108751662	2	2	122	1	0	0	0	0	0	0	0	1	9739	349	13	4		4	MORC1	3	108751662	Silent	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09	66092545	108751662	89270768	29	31830											
C3orf15	89876	genome.wustl.edu	37	chr3	119452302	119452302	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcattaccaccaaagctggTtttctgaagagggcagcaag	12	9	11	9	0	2	2	1	1	1	1	2	2	2	2	2	2	3	4	2	2	4	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:119452302T>A	ENST00000273390.5	+	10	1370	c.1293T>A	c.(1291-1293)ggT>ggA	p.G431G		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	0						mitochondrion (GO:0005739)											CCAAAGCTGGTTTTCTGAAGA	0.418																																																	0													124	121	122					3																	119452302		2203	4300	6503	SO:0001819	synonymous_variant	0			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1293T>A	3.37:g.119452302T>A			A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	superfamily_S-AdoMet_deCO2ase_core	p.G431	ENST00000273390.5	37	c.1293	CCDS2994.1	3																																																																																			MAATS1	-	NULL	ENSG00000183833		0.418	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	HGNC	protein_coding	OTTHUMT00000355222.1	-	0	68	0	T	NM_033364		119452302	1	tier1	-	no_errors	ENST00000273390	ensembl	human	known	74_37	silent	55.70	35	44	SNP	0.825	A	A	119452302	T	A	119452302	2	1	122	1	0	0	0	0	0	0	0	1	2216	1712	60	5		5	C3orf15	3	119452302	Silent	SNP	T	TCGA-LN-A5U6-01A-11D-A28B-09	10700640	119452302	78570128	30	31831											
NR1I2	8856	genome.wustl.edu	37	chr3	119530496	119530496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggggctgacagaggagcagCggatgatgatcagggagctg	11	5	19	6	1	1	4	1	3	0	1	1	7	1	7	0	5	3	3	0	5	0	0			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:119530496C>T	ENST00000337940.4	+	4	607	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	NR1I2_ENST00000466380.1_Missense_Mutation_p.R148W|NR1I2_ENST00000393716.2_Missense_Mutation_p.R148W	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	148	Hinge.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	AGAGGAGCAGCGGATGATGAT	0.562																																																	0													117	108	111					3																	119530496		2203	4300	6503	SO:0001583	missense	0			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.559C>T	3.37:g.119530496C>T	ENSP00000336528:p.Arg187Trp		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.R187W	ENST00000337940.4	37	c.559	CCDS2995.1	3	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031612	0.35797	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.95238	-3.65;-3.65;-3.65	4.91	3.04	0.35103	Nuclear hormone receptor, ligand-binding (2);	0.753921	0.12196	N	0.490702	D	0.90515	0.7028	L	0.44542	1.39	0.23138	N	0.998236	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.0;0.0;0.003	T	0.83017	-0.0169	10	0.87932	D	0	.	6.8278	0.23893	0.173:0.7296:0.0:0.0974	.	148;187;171	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	W	148;148;187	ENSP00000377319:R148W;ENSP00000420297:R148W;ENSP00000336528:R187W	ENSP00000336528:R187W	R	+	1	2	NR1I2	121013186	0.312000	0.24545	0.519000	0.27824	0.931000	0.56810	0.560000	0.23500	0.602000	0.29896	0.591000	0.81541	CGG	NR1I2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000144852		0.562	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	HGNC	protein_coding	OTTHUMT00000355126.1	-	0	67	0	C			119530496	1	tier1	-	no_errors	ENST00000337940	ensembl	human	known	74_37	missense	27.40	53	20	SNP	0.534	T	T	119530496	C	T	119530496	3	4	122	1	0	0	0	0	1	0	0	0	10659	759	27	1	573	1	NR1I2	3	119530496	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	78194	119530496	78491934	31	31832											
BCHE	590	genome.wustl.edu	37	chr3	165548074	165548074	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaaaggatccactttgcaGaatggctctggtgaacaatg	13	11	10	7	0	1	2	0	1	1	1	2	3	2	3	1	3	2	2	1	3	5	2			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:165548074G>A	ENST00000264381.3	-	2	914	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	250					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CCACTTTGCAGAATGGCTCTG	0.438																																																	0													96	99	98					3																	165548074		2203	4300	6503	SO:0001819	synonymous_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.748C>T	3.37:g.165548074G>A			A8K7P8	Silent	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.L250	ENST00000264381.3	37	c.748	CCDS3198.1	3																																																																																			BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.438	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	-	0	48	0	G			165548074	-1	tier1	-	no_errors	ENST00000264381	ensembl	human	known	74_37	silent	16.67	100	20	SNP	0.896	A	A	165548074	G	A	165548074	2	1	122	1	0	0	0	0	0	0	0	1	1359	933	33	3		3	BCHE	3	165548074	Silent	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	46017578	165548074	32474356	32	31833											
MYNN	55892	genome.wustl.edu	37	chr3	169492192	169492192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggggaattccagtttaaaGctcataggaatgtgctggcc	10	12	12	7	0	1	0	1	0	0	0	2	2	2	2	2	4	2	3	2	4	5	5			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:169492192G>T	ENST00000349841.5	+	2	772	c.109G>T	c.(109-111)Gct>Tct	p.A37S	MYNN_ENST00000392733.1_Missense_Mutation_p.A37S|MYNN_ENST00000544106.1_Missense_Mutation_p.A37S|RP11-816J6.3_ENST00000602879.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.A37S|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	37	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)|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)			CCAGTTTAAAGCTCATAGGAA	0.453																																																	0													208	192	197					3																	169492192		2203	4300	6503	SO:0001583	missense	0			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.109G>T	3.37:g.169492192G>T	ENSP00000326240:p.Ala37Ser		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A37S	ENST00000349841.5	37	c.109	CCDS3207.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.434332	0.96150	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.7	5.7	0.88788	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.076777	0.53938	D	0.000043	D	0.90889	0.7137	M	0.94101	3.495	0.54753	D	0.999983	P;D	0.52996	0.865;0.957	P;P	0.61275	0.736;0.886	D	0.92581	0.6074	10	0.87932	D	0	.	19.8481	0.96728	0.0:0.0:1.0:0.0	.	37;37	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	S	37	ENSP00000349150:A37S;ENSP00000326240:A37S;ENSP00000376492:A37S;ENSP00000440637:A37S	ENSP00000326240:A37S	A	+	1	0	MYNN	170974886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.705000	0.92388	0.650000	0.86243	GCT	MYNN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000085274		0.453	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	-	0	66	0	G	NM_018657		169492192	1	tier1	-	no_errors	ENST00000349841	ensembl	human	known	74_37	missense	9.42	202	21	SNP	1.000	T	T	169492192	G	T	169492192	3	4	122	1	0	0	0	0	1	0	0	0	10099	971	34	3	111	3	MYNN	3	169492192	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	3944118	169492192	28530238	33	31834											
MASP1	5648	genome.wustl.edu	37	chr3	186944257	186944257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtagggtcggatcttccGgatcgagtgactggtggagg	7	9	17	8	4	1	1	0	1	1	0	4	5	2	4	1	6	0	1	1	6	1	2	rs551848961		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr3:186944257G>A	ENST00000337774.5	-	12	1882	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	498	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CGGATCTTCCGGATCGAGTGA	0.577													G|||	1	0.000199681	0	0	5008	,	,		19349	0		0	False		,,,				2504	0.001																0													140	115	124					3																	186944257		2203	4300	6503	SO:0001583	missense	0			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.1493C>T	3.37:g.186944257G>A	ENSP00000336792:p.Pro498Leu		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P498L	ENST00000337774.5	37	c.1493	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	8.914	0.959536	0.18507	.	.	ENSG00000127241	ENST00000337774	D	0.92397	-3.03	5.86	1.91	0.25777	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.77438	0.4130	N	0.03608	-0.345	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.65043	-0.6264	9	0.19147	T	0.46	.	4.5172	0.11940	0.1634:0.0:0.5249:0.3117	.	498	P48740	MASP1_HUMAN	L	498	ENSP00000336792:P498L	ENSP00000336792:P498L	P	-	2	0	MASP1	188426951	0.002000	0.14202	0.003000	0.11579	0.010000	0.07245	0.750000	0.26334	0.817000	0.34445	-0.214000	0.12660	CCG	MASP1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000127241		0.577	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	-	0	40	0	G	NM_001879		186944257	-1	tier1	-	no_errors	ENST00000337774	ensembl	human	known	74_37	missense	25.19	101	34	SNP	0.000	A	A	186944257	G	A	186944257	3	1	122	1	0	0	0	0	1	0	0	0	9360	1116	39	1	626	1	MASP1	3	186944257	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	17452065	186944257	11078173	34	31835											
MUC7	4589	genome.wustl.edu	37	chr4	71346520	71346520	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	tctttcttttctgcagttcaGtgaaggtcgagaaagggatc	9	14	11	7	1	4	2	1	1	3	1	6	4	4	3	0	2	1	2	0	2	2	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr4:71346520G>C	ENST00000304887.5	+	3	249	c.59G>C	c.(58-60)aGt>aCt	p.S20T	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S20T|MUC7_ENST00000456088.1_Missense_Mutation_p.S20T	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	20					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)		p.S20I(1)		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)			ctgcagTTCAGTGAAGGTCGA	0.398																																																	1	Substitution - Missense(1)	lung(1)											106	105	105					4																	71346520		2203	4300	6503	SO:0001583	missense	0			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.59G>C	4.37:g.71346520G>C	ENSP00000302021:p.Ser20Thr		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	NULL	p.S20T	ENST00000304887.5	37	c.59	CCDS3541.1	4	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465066	0.26335	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.53640	0.62;0.61;0.62;0.62	3.85	3.01	0.34805	.	.	.	.	.	T	0.48502	0.1503	N	0.24115	0.695	0.20975	N	0.999813	D	0.64830	0.994	D	0.62955	0.909	T	0.26677	-1.0096	9	0.87932	D	0	-6.8872	7.4265	0.27102	0.1183:0.0:0.8817:0.0	.	20	Q8TAX7	MUC7_HUMAN	T	20	ENSP00000407422:S20T;ENSP00000427594:S20T;ENSP00000400585:S20T;ENSP00000302021:S20T	ENSP00000302021:S20T	S	+	2	0	MUC7	71381109	1.000000	0.71417	0.972000	0.41901	0.425000	0.31504	1.866000	0.39489	1.201000	0.43203	0.655000	0.94253	AGT	MUC7	-	NULL	ENSG00000171195		0.398	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	-	0	27	0	G	NM_152291		71346520	1	tier1	-	no_errors	ENST00000304887	ensembl	human	known	74_37	missense	53.19	22	25	SNP	0.979	C	C	71346520	G	C	71346520	3	2	122	1	0	0	0	0	1	0	0	0	10019	1029	36	5	65	5	MUC7	4	71346520	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09		71346520	119807756	35	31836											
NDST3	9348	genome.wustl.edu	37	chr4	119163246	119163246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgatcctgctacagtgatgGatgaagtacagaagtttcta	12	12	10	7	0	1	4	0	3	1	1	2	5	2	5	1	1	3	3	1	1	5	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr4:119163246G>A	ENST00000296499.5	+	12	2744	c.2341G>A	c.(2341-2343)Gat>Aat	p.D781N		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	781	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TACAGTGATGGATGAAGTACA	0.313																																																	0													121	127	125					4																	119163246		2203	4299	6502	SO:0001583	missense	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2341G>A	4.37:g.119163246G>A	ENSP00000296499:p.Asp781Asn		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.D781N	ENST00000296499.5	37	c.2341	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155176	0.78114	.	.	ENSG00000164100	ENST00000296499	T	0.54479	0.57	5.88	5.88	0.94601	Sulfotransferase domain (1);	0.158702	0.53938	D	0.000043	T	0.49541	0.1563	N	0.16567	0.415	0.80722	D	1	P	0.46784	0.884	P	0.52386	0.697	T	0.29088	-1.0023	10	0.09338	T	0.73	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	781	O95803	NDST3_HUMAN	N	781	ENSP00000296499:D781N	ENSP00000296499:D781N	D	+	1	0	NDST3	119382694	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.440000	0.97547	2.778000	0.95560	0.655000	0.94253	GAT	NDST3	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000164100		0.313	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	-	0	53	0	G	NM_004784		119163246	1	tier1	-	no_errors	ENST00000296499	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	A	A	119163246	G	A	119163246	3	1	122	1	0	0	0	0	1	0	0	0	10296	1174	41	3	2383	3	NDST3	4	119163246	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	47816726	119163246	71991030	36	31837											
SYNPO2	171024	genome.wustl.edu	37	chr4	119978554	119978554	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaatattttcattgtttttAggagagtgggcgctcccttt	7	19	9	6	1	1	1	1	0	0	1	2	2	2	1	1	2	0	2	1	2	3	9			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr4:119978554A>C	ENST00000307142.4	+	5	3448		c.e5-1		SYNPO2_ENST00000448416.2_Splice_Site	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2							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						CATTGTTTTTAGGAGAGTGGG	0.388																																																	0													48	50	49					4																	119978554		2203	4300	6503	SO:0001630	splice_region_variant	0			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	ENST00000307142.4:c.3253-1A>C	4.37:g.119978554A>C			B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Splice_Site	SNP	-	e5-2	ENST00000307142.4	37	c.3253-2	CCDS34054.1	4	.	.	.	.	.	.	.	.	.	.	A	13.64	2.297182	0.40694	.	.	ENSG00000172403	ENST00000307142;ENST00000448416;ENST00000504178	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4254	0.75045	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNPO2	120198002	1.000000	0.71417	0.570000	0.28473	0.326000	0.28443	5.063000	0.64332	2.056000	0.61249	0.482000	0.46254	.	SYNPO2	-	-	ENSG00000172403		0.388	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364018.1	-	0	40	0	A		Intron	119978554	1	tier1	-	no_errors	ENST00000307142	ensembl	human	known	74_37	splice_site	21.43	44	12	SNP	1.000	C	C	119978554	A	C	119978554	5	2	122	1	0	0	0	0	0	0	1	0	15504	434	15	4	3381	4	SYNPO2	4	119978554	Splice_Site	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09	815308	119978554	71175722	37	31838											
SPOCK3	50859	genome.wustl.edu	37	chr4	167658627	167658627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctccttaccacaatctgCaacaccatttattctggatc	10	14	3	14	0	3	0	0	0	3	0	5	1	3	1	3	1	3	1	3	1	4	5			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr4:167658627C>T	ENST00000357154.3	-	11	1269	c.1132G>A	c.(1132-1134)Gca>Aca	p.A378T	SPOCK3_ENST00000541354.1_Missense_Mutation_p.A258T|SPOCK3_ENST00000502330.1_Missense_Mutation_p.A378T|SPOCK3_ENST00000512681.1_Missense_Mutation_p.A280T|SPOCK3_ENST00000421836.2_Missense_Mutation_p.A327T|SPOCK3_ENST00000541637.1_Missense_Mutation_p.A280T|SPOCK3_ENST00000534949.1_Missense_Mutation_p.A282T|SPOCK3_ENST00000357545.4_Missense_Mutation_p.A375T|SPOCK3_ENST00000511531.1_Missense_Mutation_p.A378T|SPOCK3_ENST00000504953.1_Missense_Mutation_p.A375T|SPOCK3_ENST00000511269.1_Missense_Mutation_p.A375T|SPOCK3_ENST00000535728.1_Missense_Mutation_p.A246T|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000510741.1_Missense_Mutation_p.A335T|SPOCK3_ENST00000506886.1_Missense_Mutation_p.A378T	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	378	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		CCACAATCTGCAACACCATTT	0.388																																																	0													283	264	270					4																	167658627		2203	4300	6503	SO:0001583	missense	0			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.1132G>A	4.37:g.167658627C>T	ENSP00000349677:p.Ala378Thr		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.A378T	ENST00000357154.3	37	c.1132	CCDS54817.1	4	.	.	.	.	.	.	.	.	.	.	C	8.502	0.864510	0.17250	.	.	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	0.62941	0.97;0.97;0.97;0.97;0.97;0.97;-0.01;0.97;0.97;0.97;-0.01;0.97;0.97;0.97	5.41	2.68	0.31781	Thyroglobulin type-1 (5);	0.273372	0.40908	N	0.000992	T	0.58061	0.2096	L	0.37750	1.13	0.39782	D	0.972313	B;P;B;P;P;B;P	0.48834	0.364;0.633;0.201;0.916;0.916;0.005;0.896	B;B;B;P;P;B;P	0.51516	0.091;0.159;0.14;0.672;0.672;0.007;0.5	T	0.58803	-0.7572	10	0.52906	T	0.07	-14.5576	8.4579	0.32910	0.0:0.7308:0.1287:0.1405	.	280;282;327;387;335;375;378	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	T	378;375;375;378;378;378;335;258;280;375;246;327;280;282	ENSP00000349677:A378T;ENSP00000350153:A375T;ENSP00000425570:A375T;ENSP00000420920:A378T;ENSP00000423421:A378T;ENSP00000423606:A378T;ENSP00000426716:A335T;ENSP00000444789:A258T;ENSP00000426318:A280T;ENSP00000425502:A375T;ENSP00000441396:A246T;ENSP00000411344:A327T;ENSP00000445430:A280T;ENSP00000438142:A282T	ENSP00000349677:A378T	A	-	1	0	SPOCK3	167895202	0.992000	0.36948	0.114000	0.21550	0.026000	0.11368	2.049000	0.41288	0.745000	0.32763	0.643000	0.83706	GCA	SPOCK3	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000196104		0.388	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	HGNC	protein_coding	OTTHUMT00000364091.1	-	0	31	0	C			167658627	-1	tier1	-	no_errors	ENST00000357154	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.567	T	T	167658627	C	T	167658627	3	4	122	1	0	0	0	0	1	0	0	0	15128	710	25	3	186	3	SPOCK3	4	167658627	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	47680073	167658627	23495649	38	31839											
HMGB2	3148	genome.wustl.edu	37	chr4	174253306	174253306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcatcttctggttcGttcttcttctttgagcctgt	2	20	6	13	1	6	1	1	1	5	0	9	1	8	1	3	1	1	2	3	1	0	6			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr4:174253306G>T	ENST00000296503.5	-	5	1428	c.555C>A	c.(553-555)aaC>aaA	p.N185K	HMGB2_ENST00000446922.2_Missense_Mutation_p.N185K|HMGB2_ENST00000438704.2_Missense_Mutation_p.N185K|RP11-798M19.3_ENST00000507803.1_RNA			P26583	HMGB2_HUMAN	high mobility group box 2	185					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)		cttctggttcgttcttcttct	0.448																																																	0													214	187	196					4																	174253306		2203	4300	6503	SO:0001583	missense	0				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.555C>A	4.37:g.174253306G>T	ENSP00000296503:p.Asn185Lys		B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.N185K	ENST00000296503.5	37	c.555	CCDS3816.1	4	.	.	.	.	.	.	.	.	.	.	G	2.461	-0.324077	0.05350	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704	D;D;D	0.93811	-3.29;-3.29;-3.29	5.9	-0.917	0.10485	.	0.552403	0.17896	N	0.158343	T	0.77671	0.4165	N	0.02916	-0.46	0.35754	D	0.819662	B	0.20887	0.049	B	0.15484	0.013	T	0.68345	-0.5433	10	0.06236	T	0.91	.	9.7769	0.40626	0.6311:0.0:0.3689:0.0	.	185	P26583	HMGB2_HUMAN	K	185	ENSP00000296503:N185K;ENSP00000393448:N185K;ENSP00000404912:N185K	ENSP00000296503:N185K	N	-	3	2	HMGB2	174489881	0.355000	0.24921	0.995000	0.50966	0.922000	0.55478	-0.065000	0.11617	-0.099000	0.12263	-0.956000	0.02647	AAC	HMGB2	-	NULL	ENSG00000164104		0.448	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB2	HGNC	protein_coding	OTTHUMT00000362362.1	-	0	41	0	G	NM_001130688		174253306	-1	tier1	-	no_errors	ENST00000296503	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.980	T	T	174253306	G	T	174253306	3	4	122	1	0	0	0	0	1	0	0	0	7253	1136	40	2	78	2	HMGB2	4	174253306	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	6594679	174253306	16900970	39	31840											
AHRR	57491	genome.wustl.edu	37	chr5	344029	344029	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggacgatgatcccgccGggggagtgcacgtacgcggg	7	4	18	12	7	0	1	0	1	0	0	1	5	1	3	3	4	2	2	3	4	1	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr5:344029G>T	ENST00000505113.1	+	2	68	c.24G>T	c.(22-24)ccG>ccT	p.P8P	AHRR_ENST00000515206.1_Silent_p.P4P|AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000316418.5_Silent_p.P8P	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	8					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)			TGATCCCGCCGGGGGAGTGCA	0.682																																																	0													31	39	36					5																	344029		1908	4105	6013	SO:0001819	synonymous_variant	0			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.24G>T	5.37:g.344029G>T			A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.P8	ENST00000505113.1	37	c.24	CCDS56355.1	5																																																																																			AHRR	-	NULL	ENSG00000063438		0.682	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1		0	43	0	G	NM_020731		344029	1			no_errors	ENST00000316418	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.878	T	T	344029	G	T	344029	2	4	122	1	0	0	0	0	0	0	0	1	417	1103	39	2		2	AHRR	5	344029	Silent	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09		344029	180571231	40	31841											
GPR98	84059	genome.wustl.edu	37	chr5	89985740	89985740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggaaaccagtaaagccGtgccaatatatgtcattaat	16	9	9	7	1	1	0	1	0	0	0	1	1	1	1	3	2	3	1	3	2	8	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr5:89985740G>T	ENST00000405460.2	+	30	6649	c.6553G>T	c.(6553-6555)Gtg>Ttg	p.V2185L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2185	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)		CAGTAAAGCCGTGCCAATATA	0.378																																																	0													77	73	74					5																	89985740		1839	4095	5934	SO:0001583	missense	0			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.6553G>T	5.37:g.89985740G>T	ENSP00000384582:p.Val2185Leu		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V2185L	ENST00000405460.2	37	c.6553	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.124460	0.94429	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.33438	1.41	5.36	5.36	0.76844	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49661	-0.8916	10	0.48119	T	0.1	.	19.1187	0.93353	0.0:0.0:1.0:0.0	.	2185	Q8WXG9	GPR98_HUMAN	L	2185	ENSP00000384582:V2185L	ENSP00000296619:V2185L	V	+	1	0	GPR98	90021496	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	9.541000	0.98083	2.501000	0.84356	0.650000	0.86243	GTG	GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0	46	0	G	NM_032119		89985740	1			no_errors	ENST00000405460	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	89985740	G	T	89985740	3	4	122	1	0	0	0	0	1	0	0	0	6748	1145	40	2	6671	2	GPR98	5	89985740	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	89641711	89985740	90929520	41	31842											
NSD1	64324	genome.wustl.edu	37	chr5	176618958	176618958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcaaaattcaagagacGcccatggtggccctgcagga	11	6	13	11	1	1	1	1	0	0	1	1	3	1	2	2	4	1	2	2	4	3	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr5:176618958G>T	ENST00000439151.2	+	3	1046	c.1001G>T	c.(1000-1002)cGc>cTc	p.R334L	NSD1_ENST00000354179.4_Missense_Mutation_p.R65L|NSD1_ENST00000361032.4_Intron|NSD1_ENST00000347982.4_Missense_Mutation_p.R65L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	334	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				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)		TTCAAGAGACGCCCATGGTGG	0.413			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													98	99	99					5																	176618958		2203	4300	6503	SO:0001583	missense	0	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.1001G>T	5.37:g.176618958G>T	ENSP00000395929:p.Arg334Leu		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R334L	ENST00000439151.2	37	c.1001	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781666	0.90282	.	.	ENSG00000165671	ENST00000510954;ENST00000354179;ENST00000355783;ENST00000508896;ENST00000439151;ENST00000347982	T;T;T;T;T	0.69175	-0.38;1.6;1.6;1.6;1.6	5.44	5.44	0.79542	PWWP (3);	0.000000	0.51477	D	0.000088	T	0.79488	0.4454	M	0.63428	1.95	0.40830	D	0.983585	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.77472	-0.2575	10	0.33141	T	0.24	.	17.0262	0.86447	0.0:0.0:1.0:0.0	.	65;334	Q96L73-2;Q96L73	.;NSD1_HUMAN	L	65;65;65;65;334;65	ENSP00000423982:R65L;ENSP00000346111:R65L;ENSP00000423372:R65L;ENSP00000395929:R334L;ENSP00000343209:R65L	ENSP00000343209:R65L	R	+	2	0	NSD1	176551564	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.380000	0.73158	2.566000	0.86566	0.591000	0.81541	CGC	NSD1	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000165671		0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2		0	54	0	G	NM_172349		176618958	1			no_errors	ENST00000439151	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	176618958	G	T	176618958	3	4	122	1	0	0	0	0	1	0	0	0	10708	1087	38	2	1007	2	NSD1	5	176618958	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	86633218	176618958	4296302	42	31843											
HIST1H1A	3024	genome.wustl.edu	37	chr6	26017677	26017677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccctttgtctgcaccaacGttcccttgcttaccaggctc	6	13	6	16	1	1	0	0	0	1	0	3	0	2	0	4	1	5	4	4	1	3	5	rs375118598		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr6:26017677G>T	ENST00000244573.3	-	1	363	c.284C>A	c.(283-285)aCg>aAg	p.T95K		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	95	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)	p.T95R(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CTGCACCAACGTTCCCTTGCT	0.572																																																	1	Substitution - Missense(1)	ovary(1)											78	81	80					6																	26017677		2203	4300	6503	SO:0001583	missense	0			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.284C>A	6.37:g.26017677G>T	ENSP00000244573:p.Thr95Lys		Q3MJ34	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.T95K	ENST00000244573.3	37	c.284	CCDS4569.1	6	.	.	.	.	.	.	.	.	.	.	N	19.06	3.754156	0.69648	.	.	ENSG00000124610	ENST00000244573	T	0.09163	3.01	4.2	4.2	0.49525	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.159960	0.53938	D	0.000041	T	0.14270	0.0345	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.08889	-1.0700	10	0.29301	T	0.29	-14.8275	16.4244	0.83809	0.0:0.0:1.0:0.0	.	95	Q02539	H11_HUMAN	K	95	ENSP00000244573:T95K	ENSP00000244573:T95K	T	-	2	0	HIST1H1A	26125656	1.000000	0.71417	0.982000	0.44146	0.147000	0.21601	5.607000	0.67648	2.260000	0.74910	0.609000	0.83330	ACG	HIST1H1A	-	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	ENSG00000124610		0.572	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1A	HGNC	protein_coding	OTTHUMT00000043884.1	-	0	89	0	G	NM_005325		26017677	-1	tier1	-	no_errors	ENST00000244573	ensembl	human	known	74_37	missense	64.06	23	41	SNP	1.000	T	T	26017677	G	T	26017677	3	4	122	1	0	0	0	0	1	0	0	0	7149	1145	40	2	367	2	HIST1H1A	6	26017677	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09		26017677	145097390	43	31844											
GPR63	81491	genome.wustl.edu	37	chr6	97247160	97247161	+	Frame_Shift_Ins	INS	-	-	A																															accctacagaagaatttcccINSaaaaatccatcgggtagtaa																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr6:97247160_97247161insA	ENST00000229955.3	-	2	792_793	c.447_448insT	c.(445-450)tttgggfs	p.G150fs	GPR63_ENST00000417980.1_Frame_Shift_Ins_p.G150fs	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.G150R(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAGAATTTCCCAAAAATCCATC	0.416																																																	1	Substitution - Missense(1)	urinary_tract(1)																																								SO:0001589	frameshift_variant	0			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.448dupT	6.37:g.97247165_97247165dupA	ENSP00000229955:p.Gly150fs		Q9UJH3	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G149fs	ENST00000229955.3	37	c.448_447	CCDS5036.1	6																																																																																			GPR63	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000112218		0.416	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR63	HGNC	protein_coding	OTTHUMT00000041566.2		0	26	0	-			97247161	-1	tier1		no_errors	ENST00000229955	ensembl	human	known	74_37	frame_shift_ins	11.11	16	2	INS	1.000:0.997	A	A	97247161	-	A	97247160	7	5	122	1	0	1	1	0	0	0	0	0	6730	594	21	0	815	0	GPR63	6	97247160	Frame_Shift_Ins	INS	-	TCGA-LN-A5U6-01A-11D-A28B-09	71229483	97247160	73867907	44	31845											
HECA	51696	genome.wustl.edu	37	chr6	139487526	139487526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacgagcactgcccctgcaGcacctggatgcacctgcagt	9	6	10	16	1	0	0	0	0	0	0	0	2	0	1	4	1	7	5	4	1	1	0			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr6:139487526G>T	ENST00000367658.2	+	2	662	c.377G>T	c.(376-378)aGc>aTc	p.S126I	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	126					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)		TGCCCCTGCAGCACCTGGATG	0.612																																																	0													87	77	80					6																	139487526		2203	4300	6503	SO:0001583	missense	0			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.377G>T	6.37:g.139487526G>T	ENSP00000356630:p.Ser126Ile			Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.S126I	ENST00000367658.2	37	c.377	CCDS5194.1	6	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381221	0.82792	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.02	5.02	0.67125	.	0.083917	0.85682	D	0.000000	T	0.54565	0.1866	L	0.42245	1.32	0.58432	D	0.99999	D	0.56035	0.974	P	0.51229	0.663	T	0.59783	-0.7389	9	0.87932	D	0	.	18.8879	0.92387	0.0:0.0:1.0:0.0	.	126	Q9UBI9	HDC_HUMAN	I	126	.	ENSP00000356630:S126I	S	+	2	0	HECA	139529219	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.166000	0.94766	2.767000	0.95098	0.655000	0.94253	AGC	HECA	-	NULL	ENSG00000112406		0.612	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	HGNC	protein_coding	OTTHUMT00000042456.1	-	0	24	0	G	NM_016217		139487526	1	tier1	-	no_errors	ENST00000367658	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	139487526	G	T	139487526	3	4	122	1	0	0	0	0	1	0	0	0	7065	971	34	3	383	3	HECA	6	139487526	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	42240366	139487526	31627541	45	31846											
SYNE1	23345	genome.wustl.edu	37	chr6	152751661	152751661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgctgctgagataaatgtcCcaggattgttccttccagac	9	13	9	10	0	0	2	0	1	0	2	3	4	3	3	3	1	2	3	3	1	2	5			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr6:152751661C>T	ENST00000367255.5	-	35	5246	c.4645G>A	c.(4645-4647)Gga>Aga	p.G1549R	SYNE1_ENST00000341594.5_Missense_Mutation_p.G1619R|SYNE1_ENST00000448038.1_Missense_Mutation_p.G1556R|SYNE1_ENST00000367253.4_Missense_Mutation_p.G1549R|SYNE1_ENST00000423061.1_Missense_Mutation_p.G1556R|SYNE1_ENST00000265368.4_Missense_Mutation_p.G1549R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1549					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)		GATAAATGTCCCAGGATTGTT	0.398										HNSCC(10;0.0054)																																							0													166	159	161					6																	152751661		2202	4300	6502	SO:0001583	missense	0			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.4645G>A	6.37:g.152751661C>T	ENSP00000356224:p.Gly1549Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.G1549R	ENST00000367255.5	37	c.4645	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	15.70	2.909588	0.52439	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.66	5.66	0.87406	.	0.203527	0.34268	N	0.004109	T	0.41373	0.1156	L	0.53249	1.67	0.80722	D	1	P;P;P;P;B	0.44478	0.747;0.49;0.836;0.49;0.432	B;B;P;B;B	0.47206	0.34;0.063;0.541;0.063;0.155	T	0.11991	-1.0565	10	0.15952	T	0.53	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	1532;1549;1549;1549;1556	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	R	1549;1556;1549;1556;1619;1549	ENSP00000356224:G1549R;ENSP00000396024:G1556R;ENSP00000265368:G1549R;ENSP00000390975:G1556R;ENSP00000341887:G1619R;ENSP00000356222:G1549R	ENSP00000265368:G1549R	G	-	1	0	SYNE1	152793354	1.000000	0.71417	0.829000	0.32907	0.856000	0.48823	6.736000	0.74811	2.832000	0.97577	0.655000	0.94253	GGA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	41	0	C	NM_182961		152751661	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.997	T	T	152751661	C	T	152751661	3	4	122	1	0	0	0	0	1	0	0	0	15492	632	22	3	22269	3	SYNE1	6	152751661	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	13264135	152751661	18363406	46	31847											
CPVL	54504	genome.wustl.edu	37	chr7	29152428	29152428	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaaagggccgaccaaactCaattctcttcctagtggggg	10	8	13	10	1	2	0	1	0	1	0	4	2	3	1	3	4	1	0	3	4	4	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:29152428C>G	ENST00000409850.1	-	7	826	c.180G>C	c.(178-180)ttG>ttC	p.L60F	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Missense_Mutation_p.L60F|CPVL_ENST00000265394.5_Missense_Mutation_p.L60F			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	60						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CGACCAAACTCAATTCTCTTC	0.428																																																	0													66	65	65					7																	29152428		2203	4300	6503	SO:0001583	missense	0			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.180G>C	7.37:g.29152428C>G	ENSP00000387164:p.Leu60Phe		A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.L60F	ENST00000409850.1	37	c.180	CCDS5419.1	7	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913136	0.33815	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850	T;T;T	0.15372	2.43;2.43;2.43	5.83	4.96	0.65561	.	1.190510	0.05886	N	0.627294	T	0.34337	0.0894	M	0.78637	2.42	0.52099	D	0.999942	P	0.52316	0.952	P	0.50896	0.653	T	0.03829	-1.1000	10	0.52906	T	0.07	-22.1843	8.0448	0.30542	0.0:0.7644:0.0:0.2356	.	60	Q9H3G5	CPVL_HUMAN	F	60	ENSP00000265394:L60F;ENSP00000379572:L60F;ENSP00000387164:L60F	ENSP00000265394:L60F	L	-	3	2	CPVL	29118953	0.993000	0.37304	0.473000	0.27253	0.018000	0.09664	2.409000	0.44583	1.475000	0.48197	-0.258000	0.10820	TTG	CPVL	-	NULL	ENSG00000106066		0.428	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPVL	HGNC	protein_coding	OTTHUMT00000328305.1	-	0	43	0	C	NM_019029		29152428	-1	tier1	-	no_errors	ENST00000265394	ensembl	human	known	74_37	missense	16.00	63	12	SNP	0.976	G	G	29152428	C	G	29152428	3	3	122	1	0	0	0	0	1	0	0	0	3842	825	29	5	1294	5	CPVL	7	29152428	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09		29152428	129986235	47	31848											
PGAM2	5224	genome.wustl.edu	37	chr7	44104883	44104883	+	Silent	SNP	C	C	A	0	0	0	1	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	tcattgaggcgccaagtgcgCaccacaggcagccacatctg	10	6	11	14	2	2	1	1	1	1	0	2	1	2	1	3	2	2	2	3	2	1	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:44104883C>A	ENST00000297283.3	-	1	303	c.246G>T	c.(244-246)gtG>gtT	p.V82V	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	82					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GCCAAGTGCGCACCACAGGCA	0.622																																																	0													79	71	73					7																	44104883		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.246G>T	7.37:g.44104883C>A				Silent	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.V82	ENST00000297283.3	37	c.246	CCDS34624.1	7																																																																																			PGAM2	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	ENSG00000164708		0.622	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM2	HGNC	protein_coding	OTTHUMT00000339614.1	-	0	42	0	C			44104883	-1	tier1	-	no_errors	ENST00000297283	ensembl	human	known	74_37	silent	25.81	46	16	SNP	0.854	A	A	44104883	C	A	44104883	2	1	122	1	0	0	0	0	0	0	0	1	11813	697	25	3		3	PGAM2	7	44104883	Silent	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	14952455	44104883	115033780	48	31849											
VSTM2A	222008	genome.wustl.edu	37	chr7	54617841	54617841	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcaagtggtagccaaaatCcccaaacaaagtccacaatc	16	6	5	14	0	1	0	1	0	0	0	4	0	3	0	5	1	2	1	5	1	7	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:54617841C>A	ENST00000407838.3	+	4	1018	c.612C>A	c.(610-612)atC>atA	p.I204I	VSTM2A_ENST00000404951.1_Silent_p.I204I|VSTM2A_ENST00000302287.3_Silent_p.I204I|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Silent_p.I203I|VSTM2A_ENST00000402613.3_Silent_p.I204I	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	204						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TAGCCAAAATCCCCAAACAAA	0.517																																																	0													55	48	50					7																	54617841		2202	4299	6501	SO:0001819	synonymous_variant	0			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.612C>A	7.37:g.54617841C>A			A4D2E9|B5MC94	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.I203	ENST00000407838.3	37	c.609	CCDS5512.2	7																																																																																			VSTM2A	-	NULL	ENSG00000170419		0.517	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSTM2A	HGNC	protein_coding	OTTHUMT00000318694.1		0	11	0	C	NM_182546		54617841	1			no_errors	ENST00000402026	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.979	A	A	54617841	C	A	54617841	2	1	122	1	0	0	0	0	0	0	0	1	17278	845	30	3		3	VSTM2A	7	54617841	Silent	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	10512958	54617841	104520822	49	31850											
CALN1	83698	genome.wustl.edu	37	chr7	71868318	71868318	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccccctttttctcattctCgggcttcccctctccgggtt	1	16	7	17	2	3	0	1	0	3	0	8	0	5	0	5	2	0	2	5	2	0	5			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:71868318C>T	ENST00000395276.2	-	2	238				CALN1_ENST00000412588.1_Missense_Mutation_p.E13K|CALN1_ENST00000395275.2_Missense_Mutation_p.E13K|CALN1_ENST00000431984.1_Intron			Q9BXU9	CABP8_HUMAN	calneuron 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TTCTCATTCTCGGGCTTCCCC	0.637																																																	0													11	11	11					7																	71868318		1668	3760	5428	SO:0001627	intron_variant	0			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000395276.2:c.6+8724G>A	7.37:g.71868318C>T			J3KQA7	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.E13K	ENST00000395276.2	37	c.37	CCDS5541.1	7	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108608	0.37242	.	.	ENSG00000183166	ENST00000395275;ENST00000412588	T;T	0.69435	-0.4;-0.4	4.94	3.01	0.34805	.	.	.	.	.	T	0.68007	0.2954	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69273	-0.5188	6	0.59425	D	0.04	.	6.0152	0.19598	0.0:0.6192:0.2704:0.1104	.	.	.	.	K	13	ENSP00000378690:E13K;ENSP00000391882:E13K	ENSP00000378690:E13K	E	-	1	0	CALN1	71506254	0.969000	0.33509	0.998000	0.56505	0.915000	0.54546	1.389000	0.34453	2.275000	0.75901	0.655000	0.94253	GAG	CALN1	-	NULL	ENSG00000183166		0.637	CALN1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALN1	HGNC	protein_coding	OTTHUMT00000252013.3	-	0	101	0	C	NM_031468		71868318	-1	tier1	-	no_errors	ENST00000395275	ensembl	human	known	74_37	missense	22.67	116	34	SNP	0.991	T	T	71868318	C	T	71868318	1	4	122	0	1	0	0	0	0	0	0	0	2598	893	31	1		1	CALN1	7	71868318	Intron	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	17250477	71868318	87270345	50	31851											
MDH2	4191	genome.wustl.edu	37	chr7	75684274	75684275	+	Missense_Mutation	DNP	GC	GC	AA																															tcgcgcacacacccggagtgGccgcagatctgagccacatc																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:75684274_75684275GC>AA	ENST00000315758.5	+	2	287_288	c.193_194GC>AA	c.(193-195)GCc>AAc	p.A65N	MDH2_ENST00000443006.1_Intron|MDH2_ENST00000432020.2_Missense_Mutation_p.A65N|MDH2_ENST00000490105.1_3'UTR	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	65					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						ACCCGGAGTGGCCGCAGATCTG	0.609																																																	0																																										SO:0001583	missense	0				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	Exception_encountered	7.37:g.75684274_75684275delinsAA	ENSP00000327070:p.Ala65Asn		A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1	p.A65T|p.A65D	ENST00000315758.5	37	c.193|c.194	CCDS5581.1	7																																																																																			MDH2	-	pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1	ENSG00000146701		0.609	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH2	HGNC	protein_coding	OTTHUMT00000252851.1		0	25|24	0	G|C			75684274|75684275	1			no_errors	ENST00000315758	ensembl	human	known	74_37	missense	11.76|11.11	30|32	4	SNP	1.000	A	AA	75684275	GC	AA	75684274	3	1	122	1	0	0	0	0	1	0	0	0	9448	1203	42	3	199	3	MDH2	7	75684274	Missense_Mutation	DNP	GC	TCGA-LN-A5U6-01A-11D-A28B-09	3815956	75684274	83454389	51	31852											
ADAM22	53616	genome.wustl.edu	37	chr7	87778344	87778344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaatgattgtgatattcGtgaaacgtgctcaggaaatt	14	13	10	4	2	1	3	1	3	0	0	2	4	1	4	0	1	2	2	0	1	5	5	rs200398630		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:87778344G>A	ENST00000265727.7	+	18	1617	c.1538G>A	c.(1537-1539)cGt>cAt	p.R513H	ADAM22_ENST00000398204.4_Missense_Mutation_p.R513H|ADAM22_ENST00000398201.4_Missense_Mutation_p.R513H|ADAM22_ENST00000315984.7_Missense_Mutation_p.R513H|ADAM22_ENST00000398209.3_Missense_Mutation_p.R513H			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	513	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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)			TGTGATATTCGTGAAACGTGC	0.383																																																	0													74	65	68					7																	87778344		1823	4078	5901	SO:0001583	missense	0			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.1538G>A	7.37:g.87778344G>A	ENSP00000265727:p.Arg513His		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R513H	ENST00000265727.7	37	c.1538	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158657	0.57368	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.35	-0.269	0.12930	Blood coagulation inhibitor, Disintegrin (5);	0.385463	0.28317	N	0.015789	T	0.04182	0.0116	N	0.03050	-0.425	0.29375	N	0.863703	P;P;P;B	0.47841	0.901;0.667;0.715;0.002	B;B;B;B	0.43301	0.415;0.2;0.301;0.001	T	0.32824	-0.9892	10	0.62326	D	0.03	.	6.177	0.20449	0.2733:0.4576:0.269:0.0	.	565;513;513;513	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	H	513;513;513;513;513;480	ENSP00000381262:R513H;ENSP00000381260:R513H;ENSP00000265727:R513H;ENSP00000315900:R513H;ENSP00000381267:R513H;ENSP00000381261:R480H	ENSP00000265727:R513H	R	+	2	0	ADAM22	87616280	0.839000	0.29477	1.000000	0.80357	0.998000	0.95712	0.215000	0.17562	0.239000	0.21243	0.655000	0.94253	CGT	ADAM22	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000008277		0.383	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	-	0	28	0	G	NM_021723		87778344	1	tier1	-	no_errors	ENST00000265727	ensembl	human	known	74_37	missense	51.52	16	17	SNP	0.999	A	A	87778344	G	A	87778344	3	1	122	1	0	0	0	0	1	0	0	0	244	1145	40	1	1608	1	ADAM22	7	87778344	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	12094070	87778344	71360319	52	31853											
ZNF804B	219578	genome.wustl.edu	37	chr7	88964139	88964139	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccattggcaaggctgcagaAaggcagttctaaatgatata	14	9	10	8	0	1	2	0	1	1	1	1	2	1	2	1	3	1	5	1	3	6	5			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:88964139A>G	ENST00000333190.4	+	4	2452	c.1843A>G	c.(1843-1845)Aag>Gag	p.K615E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	615							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGGCTGCAGAAAGGCAGTTCT	0.388										HNSCC(36;0.09)																																							0													67	71	69					7																	88964139		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1843A>G	7.37:g.88964139A>G	ENSP00000329638:p.Lys615Glu		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.K615E	ENST00000333190.4	37	c.1843	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	A	2.484	-0.318957	0.05386	.	.	ENSG00000182348	ENST00000333190	T	0.05382	3.45	5.49	3.11	0.35812	.	0.400754	0.26262	N	0.025391	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.29716	0.255	B	0.16722	0.016	T	0.41574	-0.9501	10	0.56958	D	0.05	-3.6909	5.4578	0.16600	0.5781:0.2796:0.1422:0.0	.	615	A4D1E1	Z804B_HUMAN	E	615	ENSP00000329638:K615E	ENSP00000329638:K615E	K	+	1	0	ZNF804B	88802075	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.566000	0.23593	0.508000	0.28173	0.533000	0.62120	AAG	ZNF804B	-	NULL	ENSG00000182348		0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	28	0	A	NM_181646		88964139	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.000	G	G	88964139	A	G	88964139	3	3	122	1	0	0	0	0	1	0	0	0	18219	15	1	4	1857	4	ZNF804B	7	88964139	Missense_Mutation	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09	1185795	88964139	70174524	53	31854											
TRRAP	8295	genome.wustl.edu	37	chr7	98586521	98586521	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agctgcacctgggcgtgtctGccatcacctgctacctgcac	6	9	10	16	1	2	0	1	0	1	0	2	0	2	0	4	1	6	4	4	1	1	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:98586521G>T	ENST00000359863.4	+	62	9744	c.9535G>T	c.(9535-9537)Gcc>Tcc	p.A3179S	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3150S|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3150S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3179	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)			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)			GGGCGTGTCTGCCATCACCTG	0.562																																																	0													71	70	70					7																	98586521		2203	4300	6503	SO:0001583	missense	0			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.9535G>T	7.37:g.98586521G>T	ENSP00000352925:p.Ala3179Ser		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A3179S	ENST00000359863.4	37	c.9535	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120437	0.77323	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.75589	-0.95;-0.95	5.32	5.32	0.75619	PIK-related kinase (1);Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.85173	0.5636	M	0.92169	3.28	0.80722	D	1	P;P;P	0.45176	0.623;0.852;0.674	B;P;B	0.47162	0.225;0.54;0.407	D	0.88949	0.3385	10	0.72032	D	0.01	.	19.0084	0.92861	0.0:0.0:1.0:0.0	.	3150;2889;3179	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	S	3179;3150;3149	ENSP00000352925:A3179S;ENSP00000347733:A3150S	ENSP00000347733:A3150S	A	+	1	0	TRRAP	98424457	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.767000	0.85331	2.489000	0.83994	0.655000	0.94253	GCC	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000196367		0.562	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	39	0	G	NM_003496		98586521	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	T	T	98586521	G	T	98586521	3	4	122	1	0	0	0	0	1	0	0	0	16649	1319	46	3	9686	3	TRRAP	7	98586521	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	9622382	98586521	60552142	54	31855											
MUC17	140453	genome.wustl.edu	37	chr7	100681041	100681041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcagcaccacgccggtggCcagtcctgaggctagcaccc	7	6	11	17	2	1	1	1	1	1	0	3	1	2	1	5	3	2	3	5	3	1	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:100681041C>A	ENST00000306151.4	+	3	6408	c.6344C>A	c.(6343-6345)gCc>gAc	p.A2115D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2115	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)					ACGCCGGTGGCCAGTCCTGAG	0.493																																																	0													214	217	216					7																	100681041		2203	4300	6503	SO:0001583	missense	0			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.6344C>A	7.37:g.100681041C>A	ENSP00000302716:p.Ala2115Asp		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.A2115D	ENST00000306151.4	37	c.6344	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	3.670	-0.067790	0.07228	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.942	0.942	0.19525	.	.	.	.	.	T	0.01835	0.0058	L	0.29908	0.895	0.09310	N	1	P	0.42993	0.797	B	0.28638	0.092	T	0.50964	-0.8765	9	0.31617	T	0.26	.	7.8457	0.29424	0.0:1.0:0.0:0.0	.	2115	Q685J3	MUC17_HUMAN	D	2115	ENSP00000302716:A2115D	ENSP00000302716:A2115D	A	+	2	0	MUC17	100467761	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.904000	0.28491	0.833000	0.34828	0.134000	0.15878	GCC	MUC17	-	NULL	ENSG00000169876		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	92	0	C	NM_001040105		100681041	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	34.29	92	48	SNP	0.003	A	A	100681041	C	A	100681041	3	1	122	1	0	0	0	0	1	0	0	0	10012	739	26	3	6354	3	MUC17	7	100681041	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	2094520	100681041	58457622	55	31856											
CCDC136	64753	genome.wustl.edu	37	chr7	128451963	128451963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaggctcctagaggagcGgaagaggctgcaggcagact	11	4	18	8	1	0	3	0	0	0	3	1	6	1	6	1	6	2	4	1	6	2	1	rs570468395		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:128451963G>A	ENST00000297788.4	+	13	2505	c.2138G>A	c.(2137-2139)cGg>cAg	p.R713Q	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	713						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTAGAGGAGCGGAAGAGGCTG	0.567													G|||	1	0.000199681	0	0	5008	,	,		20631	0		0	False		,,,				2504	0.001																0													66	68	67					7																	128451963		1917	4142	6059	SO:0001583	missense	0				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.2138G>A	7.37:g.128451963G>A	ENSP00000297788:p.Arg713Gln		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	NULL	p.R713Q	ENST00000297788.4	37	c.2138	CCDS47704.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.078098|4.078098	0.76528|0.76528	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000494552|ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	.|T;T	.|0.55588	.|0.51;0.51	5.93|5.93	3.15|3.15	0.36227|0.36227	.|.	.|0.334859	.|0.25951	.|N	.|0.027241	T|T	0.45756|0.45756	0.1358|0.1358	M|M	0.71581|0.71581	2.175|2.175	0.26268|0.26268	N|N	0.978464|0.978464	.|P;P;P	.|0.51057	.|0.941;0.656;0.517	.|B;B;B	.|0.39027	.|0.288;0.188;0.077	T|T	0.40776|0.40776	-0.9545|-0.9545	5|10	.|0.30078	.|T	.|0.28	-15.005|-15.005	8.8063|8.8063	0.34941|0.34941	0.2404:0.0:0.7596:0.0|0.2404:0.0:0.7596:0.0	.|.	.|713;713;713	.|Q96JN2-4;Q96JN2-2;Q96JN2	.|.;.;CC136_HUMAN	R|Q	590|713;713;713;304	.|ENSP00000297788:R713Q;ENSP00000417991:R304Q	.|ENSP00000297788:R713Q	G|R	+|+	1|2	0|0	CCDC136|CCDC136	128239199|128239199	0.417000|0.417000	0.25432|0.25432	0.991000|0.991000	0.47740|0.47740	0.990000|0.990000	0.78478|0.78478	0.587000|0.587000	0.23909|0.23909	0.851000|0.851000	0.35264|0.35264	0.561000|0.561000	0.74099|0.74099	GGA|CGG	CCDC136	-	NULL	ENSG00000128596		0.567	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1	-	0	33	0	G	NM_022742		128451963	1	tier1	-	no_errors	ENST00000297788	ensembl	human	known	74_37	missense	54.76	19	23	SNP	0.917	A	A	128451963	G	A	128451963	3	1	122	1	0	0	0	0	1	0	0	0	2777	1116	39	1	2188	1	CCDC136	7	128451963	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	27770922	128451963	30686700	56	31857											
DGKI	9162	genome.wustl.edu	37	chr7	137374666	137374666	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccaaagtcgctctgggctCcttggctggaccatttgcca	6	11	11	13	1	1	0	0	0	1	0	4	1	3	1	4	3	1	3	4	3	1	2			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:137374666C>A	ENST00000288490.5	-	2	484	c.484G>T	c.(484-486)Gag>Tag	p.E162*	DGKI_ENST00000424189.2_Nonsense_Mutation_p.E162*|DGKI_ENST00000453654.2_Intron|DGKI_ENST00000446122.1_Nonsense_Mutation_p.E162*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	162					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCTCTGGGCTCCTTGGCTGGA	0.512																																																	0													77	70	73					7																	137374666		2203	4300	6503	SO:0001587	stop_gained	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.484G>T	7.37:g.137374666C>A	ENSP00000288490:p.Glu162*		A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E162*	ENST00000288490.5	37	c.484	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.631850	0.98399	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.69	5.69	0.88448	.	0.050416	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	18.586	0.91189	0.0:1.0:0.0:0.0	.	.	.	.	X	110;162;162;162	.	ENSP00000288490:E162X	E	-	1	0	DGKI	137025206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.377000	0.66184	2.683000	0.91414	0.563000	0.77884	GAG	DGKI	-	NULL	ENSG00000157680		0.512	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0	20	0	C	NM_004717		137374666	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	nonsense	34.29	23	12	SNP	1.000	A	A	137374666	C	A	137374666	4	1	122	1	0	0	0	0	0	1	0	0	4485	864	30	3	2845	3	DGKI	7	137374666	Nonsense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	8922703	137374666	21763997	57	31858											
ZNF775	285971	genome.wustl.edu	37	chr7	150093612	150093612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctggcaggagctgggctgGtgatgaaggtcaagcaggag	9	7	18	7	0	2	2	1	2	1	0	2	4	2	4	0	6	2	4	0	6	2	0			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:150093612G>T	ENST00000329630.5	+	3	150	c.43G>T	c.(43-45)Gtg>Ttg	p.V15L		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTGGGCTGGTGATGAAGGT	0.607																																																	0													9	12	11					7																	150093612		1991	4164	6155	SO:0001583	missense	0			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.43G>T	7.37:g.150093612G>T	ENSP00000330838:p.Val15Leu		Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V15L	ENST00000329630.5	37	c.43	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366650	0.24771	.	.	ENSG00000196456	ENST00000478789;ENST00000329630;ENST00000490973	T;T;T	0.08193	3.98;3.12;3.31	3.88	2.99	0.34606	.	.	.	.	.	T	0.06142	0.0159	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.36504	-0.9745	9	0.23891	T	0.37	.	11.7413	0.51794	0.0:0.1803:0.8197:0.0	.	15	Q96BV0	ZN775_HUMAN	L	15	ENSP00000419336:V15L;ENSP00000330838:V15L;ENSP00000417483:V15L	ENSP00000330838:V15L	V	+	1	0	ZNF775	149724545	0.000000	0.05858	0.330000	0.25442	0.805000	0.45488	-1.411000	0.02478	1.217000	0.43442	0.561000	0.74099	GTG	ZNF775	-	NULL	ENSG00000196456		0.607	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1	-	0	46	0	G	NM_173680		150093612	1	tier1	-	no_errors	ENST00000329630	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.106	T	T	150093612	G	T	150093612	3	4	122	1	0	0	0	0	1	0	0	0	18196	1261	44	3	49	3	ZNF775	7	150093612	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	12718946	150093612	9045051	58	31859											
CHPF2	54480	genome.wustl.edu	37	chr7	150934477	150934477	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggctcagatccggaacctGaccgtgctgacccccgaagg	9	5	12	15	3	1	3	1	2	0	1	2	5	2	4	5	3	2	2	5	3	2	0			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr7:150934477G>A	ENST00000035307.2	+	4	2542	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Silent_p.L335L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	343					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						TCCGGAACCTGACCGTGCTGA	0.617																																																	0													46	46	46					7																	150934477		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1029G>A	7.37:g.150934477G>A			B2DBD8|Q6P2I4|Q6UXD2	Silent	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.L343	ENST00000035307.2	37	c.1029	CCDS34779.1	7																																																																																			CHPF2	-	pfam_Chond_GalNAc	ENSG00000033100		0.617	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2	-	0	43	0	G	NM_019015		150934477	1	tier1	-	no_errors	ENST00000035307	ensembl	human	known	74_37	silent	22.03	46	13	SNP	1.000	A	A	150934477	G	A	150934477	2	1	122	1	0	0	0	0	0	0	0	1	3376	1277	45	3		3	CHPF2	7	150934477	Silent	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	840865	150934477	8204186	59	31860											
SLC26A7	115111	genome.wustl.edu	37	chr8	92406495	92406495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttccaacaatgccacCgctctgaggattgggtggtt	8	11	12	10	1	2	1	0	1	2	0	3	3	3	3	3	4	2	2	3	4	2	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr8:92406495C>A	ENST00000309536.2	+	19	2205	c.1985C>A	c.(1984-1986)cCg>cAg	p.P662Q	SLC26A7_ENST00000520249.1_Intron|SLC26A7_ENST00000523719.1_Intron|SLC26A7_ENST00000276609.3_Intron	NM_134266.1	NP_599028.1			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)			ACAATGCCACCGCTCTGAGGA	0.408																																																	0													86	85	86					8																	92406495		2203	4300	6503	SO:0001583	missense	0			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	ENST00000309536.2:c.1985C>A	8.37:g.92406495C>A	ENSP00000309504:p.Pro662Gln			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.P662Q	ENST00000309536.2	37	c.1985	CCDS6255.1	8	.	.	.	.	.	.	.	.	.	.	C	9.807	1.181995	0.21787	.	.	ENSG00000147606	ENST00000309536	D	0.92495	-3.05	4.85	-0.775	0.10988	.	1.028200	0.07842	N	0.963202	D	0.83445	0.5256	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.67158	-0.5741	9	0.38643	T	0.18	.	1.2831	0.02045	0.2911:0.0887:0.1616:0.4586	.	662	Q8TE54-2	.	Q	662	ENSP00000309504:P662Q	ENSP00000309504:P662Q	P	+	2	0	SLC26A7	92475671	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.274000	0.08537	-0.312000	0.08741	-0.414000	0.06135	CCG	SLC26A7	-	NULL	ENSG00000147606		0.408	SLC26A7-004	KNOWN	basic|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377012.1	-	0	67	0	C			92406495	1	tier1	-	no_errors	ENST00000309536	ensembl	human	known	74_37	missense	36.36	49	28	SNP	0.000	A	A	92406495	C	A	92406495	3	1	122	1	0	0	0	0	1	0	0	0	14567	652	23	2	2055	2	SLC26A7	8	92406495	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09		92406495	53957527	60	31861											
TRMT12	55039	genome.wustl.edu	37	chr8	125463784	125463784	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagagcatgtggataatggtAtccgttataagtttgacgtg	11	14	12	4	2	0	2	0	1	0	1	1	3	1	3	1	2	1	4	1	2	5	6			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr8:125463784A>G	ENST00000328599.3	+	1	737	c.616A>G	c.(616-618)Atc>Gtc	p.I206V	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	206					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)			GGATAATGGTATCCGTTATAA	0.512																																																	0													173	150	158					8																	125463784		2203	4300	6503	SO:0001583	missense	0			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.616A>G	8.37:g.125463784A>G	ENSP00000329858:p.Ile206Val		Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	pfam_tRNA_Trfase_Trm5/Tyw2	p.I206V	ENST00000328599.3	37	c.616	CCDS6349.1	8	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222012	0.58560	.	.	ENSG00000183665	ENST00000328599	T	0.20598	2.06	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	L	0.35854	1.095	0.58432	D	0.999993	D	0.56521	0.976	D	0.65773	0.938	T	0.03240	-1.1057	10	0.49607	T	0.09	-14.1207	12.9369	0.58320	1.0:0.0:0.0:0.0	.	206	Q53H54	TYW2_HUMAN	V	206	ENSP00000329858:I206V	ENSP00000329858:I206V	I	+	1	0	TRMT12	125532965	1.000000	0.71417	0.940000	0.37924	0.597000	0.36814	8.420000	0.90256	2.092000	0.63282	0.459000	0.35465	ATC	TRMT12	-	pfam_tRNA_Trfase_Trm5/Tyw2	ENSG00000183665		0.512	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT12	HGNC	protein_coding	OTTHUMT00000381465.1	-	0	83	0	A	NM_017956		125463784	1	tier1	-	no_errors	ENST00000328599	ensembl	human	known	74_37	missense	21.36	81	22	SNP	0.998	G	G	125463784	A	G	125463784	3	3	122	1	0	0	0	0	1	0	0	0	16612	449	16	4	618	4	TRMT12	8	125463784	Missense_Mutation	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09	33057289	125463784	20900238	61	31862											
ADCY8	114	genome.wustl.edu	37	chr8	132051802	132051802	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcccgtagccgaggcctgCtgccaggatctgggtggtca	6	7	16	12	2	2	0	1	0	1	0	2	3	2	1	4	4	4	2	4	4	1	1	rs529610958		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr8:132051802C>G	ENST00000286355.5	-	1	2870	c.778G>C	c.(778-780)Gca>Cca	p.A260P	ADCY8_ENST00000377928.3_Missense_Mutation_p.A260P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	260					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)			CCGAGGCCTGCTGCCAGGATC	0.657										HNSCC(32;0.087)																																							0													45	40	41					8																	132051802		2203	4300	6503	SO:0001583	missense	0			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.778G>C	8.37:g.132051802C>G	ENSP00000286355:p.Ala260Pro			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A260P	ENST00000286355.5	37	c.778	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447725	0.63178	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.48522	0.81;0.81	5.46	5.46	0.80206	.	0.072872	0.56097	D	0.000036	T	0.41419	0.1158	L	0.38175	1.15	0.45046	D	0.99806	P;P	0.41041	0.736;0.736	B;B	0.38156	0.266;0.266	T	0.25606	-1.0127	10	0.35671	T	0.21	.	18.2863	0.90115	0.0:1.0:0.0:0.0	.	260;260	E7EVL1;P40145	.;ADCY8_HUMAN	P	260	ENSP00000286355:A260P;ENSP00000367161:A260P	ENSP00000286355:A260P	A	-	1	0	ADCY8	132120984	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.532000	0.67154	2.580000	0.87095	0.455000	0.32223	GCA	ADCY8	-	NULL	ENSG00000155897		0.657	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	38	0	C			132051802	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	10.45	60	7	SNP	1.000	G	G	132051802	C	G	132051802	3	3	122	1	0	0	0	0	1	0	0	0	300	797	28	5	3049	5	ADCY8	8	132051802	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	6588018	132051802	14312220	62	31863											
FRMPD1	22844	genome.wustl.edu	37	chr9	37740199	37740199	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcactcataaaggaggagcaGcctcctgggaacagccccac	12	5	10	14	0	2	0	2	0	0	0	3	3	3	3	4	3	4	1	4	3	3	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:37740199G>T	ENST00000539465.1	+	15	2267	c.1674G>T	c.(1672-1674)caG>caT	p.Q558H	FRMPD1_ENST00000536622.1_Missense_Mutation_p.Q380H|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q558H|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Q427H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	558						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)		AGGAGGAGCAGCCTCCTGGGA	0.632																																																	0													36	42	40					9																	37740199		2203	4300	6503	SO:0001583	missense	0			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.1674G>T	9.37:g.37740199G>T	ENSP00000444411:p.Gln558His		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.Q558H	ENST00000539465.1	37	c.1674	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	G	6.666	0.491430	0.12702	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.18502	3.2;3.2;2.21;2.21	5.95	-0.408	0.12381	.	1.609800	0.03075	N	0.157643	T	0.14527	0.0351	L	0.51422	1.61	0.09310	N	1	B;P	0.35600	0.34;0.511	B;B	0.31751	0.064;0.135	T	0.15292	-1.0442	10	0.44086	T	0.13	0.0641	1.6357	0.02741	0.2061:0.1182:0.4325:0.2433	.	427;558	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	H	558;558;380;427	ENSP00000366995:Q558H;ENSP00000444411:Q558H;ENSP00000437762:Q380H;ENSP00000444804:Q427H	ENSP00000366995:Q558H	Q	+	3	2	FRMPD1	37730199	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.885000	0.28227	-0.343000	0.08351	-0.181000	0.13052	CAG	FRMPD1	-	NULL	ENSG00000070601		0.632	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	-	0	34	0	G	NM_014907		37740199	1	tier1	-	no_errors	ENST00000377765	ensembl	human	known	74_37	missense	72.92	13	35	SNP	0.009	T	T	37740199	G	T	37740199	3	4	122	1	0	0	0	0	1	0	0	0	6081	962	34	3	1728	3	FRMPD1	9	37740199	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09		37740199	103473232	63	31864											
TLE4	7091	genome.wustl.edu	37	chr9	82336710	82336710	+	Silent	SNP	C	C	T	0	0	0	1	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	attgacatttctaatgatggCaccaagctctggacaggtgg	11	11	11	8	0	2	2	0	2	2	0	2	3	2	3	1	4	1	2	1	4	2	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:82336710C>T	ENST00000376552.2	+	17	2911	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	TLE4_ENST00000376520.4_Silent_p.G663G|TLE4_ENST00000376534.4_Silent_p.G268G|TLE4_ENST00000265284.6_Silent_p.G606G|TLE4_ENST00000376544.3_Silent_p.G562G|TLE4_ENST00000376537.4_Silent_p.G663G	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	631					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTAATGATGGCACCAAGCTCT	0.527																																																	0													76	75	75					9																	82336710		2203	4300	6503	SO:0001819	synonymous_variant	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1893C>T	9.37:g.82336710C>T			F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.G663	ENST00000376552.2	37	c.1989	CCDS43837.1	9																																																																																			TLE4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000106829		0.527	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	-	0	40	0	C	XM_212237		82336710	1	tier1	-	no_errors	ENST00000376520	ensembl	human	known	74_37	silent	37.21	27	16	SNP	1.000	T	T	82336710	C	T	82336710	2	4	122	1	0	0	0	0	0	0	0	1	15988	697	25	3		3	TLE4	9	82336710	Silent	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	44596511	82336710	58876721	64	31865											
TNC	3371	genome.wustl.edu	37	chr9	117838320	117838320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgccccacctgtggctgCgttgatggtcgctggattgc	3	12	15	11	2	0	1	0	1	0	0	1	2	0	2	3	3	3	3	3	3	0	2	rs139800185	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:117838320C>T	ENST00000350763.4	-	9	3352	c.2941G>A	c.(2941-2943)Gca>Aca	p.A981T	TNC_ENST00000535648.1_Missense_Mutation_p.A981T|TNC_ENST00000537320.1_Missense_Mutation_p.A981T|TNC_ENST00000345230.3_Missense_Mutation_p.A981T|TNC_ENST00000341037.4_Missense_Mutation_p.A981T|TNC_ENST00000340094.3_Missense_Mutation_p.A981T|TNC_ENST00000346706.3_Missense_Mutation_p.A981T|TNC_ENST00000423613.2_Missense_Mutation_p.A981T|TNC_ENST00000542877.1_Missense_Mutation_p.A981T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	981	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						CCTGTGGCTGCGTTGATGGTC	0.507																																																	0								C	THR/ALA	0,4406		0,0,2203	151	136	141		2941	5.2	0.6	9	dbSNP_134	141	3,8597	3.0+/-9.4	0,3,4297	no	missense	TNC	NM_002160.3	58	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	981/2202	117838320	3,13003	2203	4300	6503	SO:0001583	missense	0				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.2941G>A	9.37:g.117838320C>T	ENSP00000265131:p.Ala981Thr		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.A981T	ENST00000350763.4	37	c.2941	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103327	0.76983	0.0	3.49E-4	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.23	5.23	0.72850	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.178728	0.49305	D	0.000148	T	0.73265	0.3565	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.945	T	0.76982	-0.2757	10	0.59425	D	0.04	.	19.146	0.93469	0.0:1.0:0.0:0.0	.	981;981	E9PC84;P24821	.;TENA_HUMAN	T	981	ENSP00000344400:A981T;ENSP00000438152:A981T;ENSP00000344555:A981T;ENSP00000345861:A981T;ENSP00000265131:A981T;ENSP00000339553:A981T;ENSP00000411406:A981T;ENSP00000443478:A981T;ENSP00000442242:A981T	ENSP00000344400:A981T	A	-	1	0	TNC	116878141	1.000000	0.71417	0.648000	0.29521	0.269000	0.26545	7.414000	0.80117	2.593000	0.87608	0.655000	0.94253	GCA	TNC	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.507	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0	82	0	C	NM_002160		117838320	-1	tier1	rs139800185	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	22.77	78	23	SNP	1.000	T	T	117838320	C	T	117838320	3	4	122	1	0	0	0	0	1	0	0	0	16317	768	27	1	3744	1	TNC	9	117838320	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	35501610	117838320	23375111	65	31866											
OR1J1	347168	genome.wustl.edu	37	chr9	125239311	125239311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caagagttttcttagggctcCcttaatgtctttatttctca	8	18	6	9	0	3	1	1	0	3	1	5	1	4	1	1	1	0	2	1	1	4	7			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:125239311C>T	ENST00000259357.2	-	1	924	c.895G>A	c.(895-897)Gga>Aga	p.G299R	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, 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(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CTTAGGGCTCCCTTAATGTCT	0.453																																																	0													93	87	89					9																	125239311		2203	4300	6503	SO:0001583	missense	0			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"GPCR / Class A : Olfactory receptors"	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.895G>A	9.37:g.125239311C>T	ENSP00000259357:p.Gly299Arg		A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G299R	ENST00000259357.2	37	c.895	CCDS35120.1	9	.	.	.	.	.	.	.	.	.	.	C	3.739	-0.053975	0.07362	.	.	ENSG00000136834	ENST00000259357	T	0.34472	1.36	4.93	4.02	0.46733	.	0.104599	0.42964	D	0.000635	T	0.17023	0.0409	N	0.11892	0.195	0.22185	N	0.999305	B	0.12013	0.005	B	0.12837	0.008	T	0.17837	-1.0356	10	0.15952	T	0.53	.	6.1941	0.20540	0.3363:0.5786:0.0:0.0851	.	299	Q8NGS3	OR1J1_HUMAN	R	299	ENSP00000259357:G299R	ENSP00000259357:G299R	G	-	1	0	OR1J1	124279132	0.000000	0.05858	0.990000	0.47175	0.004000	0.04260	0.004000	0.13106	1.448000	0.47680	0.597000	0.82753	GGA	OR1J1	-	NULL	ENSG00000136834		0.453	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J1	HGNC	protein_coding	OTTHUMT00000053931.1	-	0	77	0	C			125239311	-1	tier1	-	no_errors	ENST00000259357	ensembl	human	known	74_37	missense	30.30	69	30	SNP	0.607	T	T	125239311	C	T	125239311	3	4	122	1	0	0	0	0	1	0	0	0	10998	632	22	3	76	3	OR1J1	9	125239311	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	7400991	125239311	15974120	66	31867											
FCN2	2220	genome.wustl.edu	37	chr9	137779104	137779104	+	Missense_Mutation	SNP	A	A	C	1	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	aaattgtgctgtgatgtttcAgggagcttggtggtacaaaa	11	13	13	4	0	1	1	1	1	0	0	1	2	1	2	0	3	3	4	0	3	4	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:137779104A>C	ENST00000291744.6	+	8	795	c.785A>C	c.(784-786)cAg>cCg	p.Q262P	FCN2_ENST00000350339.2_Missense_Mutation_p.Q224P	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	262	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)		GTGATGTTTCAGGGAGCTTGG	0.498																																																	0													164	146	152					9																	137779104		2203	4300	6503	SO:0001583	missense	0			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.785A>C	9.37:g.137779104A>C	ENSP00000291744:p.Gln262Pro		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Q262P	ENST00000291744.6	37	c.785	CCDS6983.1	9	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114823	0.37339	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.77098	-1.07;-1.07	4.05	-1.36	0.09085	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.793873	0.10605	N	0.655103	T	0.76828	0.4042	M	0.82323	2.585	0.09310	N	0.999999	B;B	0.18741	0.03;0.005	B;B	0.24269	0.052;0.019	T	0.69289	-0.5184	10	0.72032	D	0.01	.	8.2966	0.31988	0.6104:0.0:0.3896:0.0	.	224;262	Q15485-2;Q15485	.;FCN2_HUMAN	P	224;262	ENSP00000291741:Q224P;ENSP00000291744:Q262P	ENSP00000291744:Q262P	Q	+	2	0	FCN2	136918925	0.000000	0.05858	0.045000	0.18777	0.016000	0.09150	-0.736000	0.04882	-0.249000	0.09569	0.460000	0.39030	CAG	FCN2	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000160339		0.498	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	HGNC	protein_coding	OTTHUMT00000054960.1	-	0	35	0	A	NM_004108		137779104	1	tier1	-	no_errors	ENST00000291744	ensembl	human	known	74_37	missense	54.35	21	25	SNP	0.227	C	C	137779104	A	C	137779104	3	2	122	1	0	0	0	0	1	0	0	0	5814	188	7	4	815	4	FCN2	9	137779104	Missense_Mutation	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09	12539793	137779104	3434327	67	31868											
NOTCH1	4851	genome.wustl.edu	37	chr9	139418316	139418317	+	Frame_Shift_Ins	INS	-	-	A																															cccagggcacagctgcaggcINSatagtctgccacgcctctgc																								rs373941045		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:139418316_139418317insA	ENST00000277541.6	-	3	330_331	c.255_256insT	c.(253-258)tatgccfs	p.A86fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	86	EGF-like 2. {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)		CAGCTGCAGGCATAGTCTGCCA	0.688			"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	0			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.256dupT	9.37:g.139418317_139418317dupA	ENSP00000277541:p.Ala86fs		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.A85fs	ENST00000277541.6	37	c.256_255	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.688	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0	102	0	-	NM_017617		139418317	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_ins	68.29	26	56	INS	0.309:0.316	A	A	139418317	-	A	139418316	7	5	122	1	0	1	1	0	0	0	0	0	10586	710	25	0	7539	0	NOTCH1	9	139418316	Frame_Shift_Ins	INS	-	TCGA-LN-A5U6-01A-11D-A28B-09	1639212	139418316	1795115	68	31869											
EXD3	54932	genome.wustl.edu	37	chr9	140201471	140201471	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctgggggcgctctccagcatGtctcggaagtgggtggcaac	6	8	16	11	2	2	0	0	0	2	0	4	1	2	1	1	5	2	3	1	5	2	0			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr9:140201471G>T	ENST00000340951.4	-	22	2757	c.2562C>A	c.(2560-2562)gaC>gaA	p.D854E	EXD3_ENST00000342129.4_Missense_Mutation_p.D492E	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TCTCCAGCATGTCTCGGAAGT	0.647																																																	0													22	27	26					9																	140201471		2021	4159	6180	SO:0001583	missense	0				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2562C>A	9.37:g.140201471G>T	ENSP00000340474:p.Asp854Glu		Q6P1M1|Q8IXT8	Missense_Mutation	SNP	pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.D854E	ENST00000340951.4	37	c.2562	CCDS48066.1	9	.	.	.	.	.	.	.	.	.	.	G	0.144	-1.098388	0.01843	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.62788	0.0;0.79	4.17	-3.21	0.05140	.	.	.	.	.	T	0.30293	0.0760	N	0.10760	0.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.11817	-1.0572	9	0.18710	T	0.47	.	1.0049	0.01485	0.3572:0.2286:0.2485:0.1657	.	492;854	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	E	492;854	ENSP00000343705:D492E;ENSP00000340474:D854E	ENSP00000340474:D854E	D	-	3	2	EXD3	139321292	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.602000	0.02079	-1.311000	0.02309	-0.671000	0.03813	GAC	EXD3	-	NULL	ENSG00000187609		0.647	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	HGNC	protein_coding	OTTHUMT00000343182.1	-	0	43	0	G	NM_017820		140201471	-1	tier1	-	no_errors	ENST00000340951	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T	T	140201471	G	T	140201471	3	4	122	1	0	0	0	0	1	0	0	0	5315	1368	48	3	72	3	EXD3	9	140201471	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	783155	140201471	1011960	69	31870											
ITIH5	80760	genome.wustl.edu	37	chr10	7628031	7628031	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgaagagggcatccttgGtctaggcaaacacaaaagca	14	8	11	8	0	1	2	0	1	1	1	2	2	2	2	1	3	2	3	1	3	5	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr10:7628031G>T	ENST00000256861.6	-	8	1019	c.941C>A	c.(940-942)aCc>aAc	p.T314N	ITIH5_ENST00000397145.2_Splice_Site_p.T314N|ITIH5_ENST00000446830.2_Splice_Site_p.T96N|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Splice_Site_p.T314N|ITIH5_ENST00000298441.6_Splice_Site_p.T100N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	314	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						GGCATCCTTGGTCTAGGCAAA	0.507																																																	0													88	79	82					10																	7628031		2203	4300	6503	SO:0001630	splice_region_variant	0					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.940-1C>A	10.37:g.7628031G>T			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.T314N	ENST00000256861.6	37	c.941		10	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529504	0.85706	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.3	5.3	0.74995	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	.	.	.	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92676	0.6154	9	0.87932	D	0	-39.2702	18.9592	0.92671	0.0:0.0:1.0:0.0	.	314;314;100	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	N	314;314;100;96;314	ENSP00000256861:T314N;ENSP00000380333:T314N;ENSP00000298441:T100N;ENSP00000387969:T96N;ENSP00000380332:T314N	ENSP00000256861:T314N	T	-	2	0	ITIH5	7668037	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.296000	0.96104	2.474000	0.83562	0.561000	0.74099	ACC	ITIH5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000123243		0.507	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	-	0	60	0	G	NM_030569	Missense_Mutation	7628031	-1	tier1	-	no_errors	ENST00000256861	ensembl	human	known	74_37	missense	33.65	69	35	SNP	1.000	T	T	7628031	G	T	7628031	5	4	122	1	0	0	0	0	0	0	1	0	7934	1275	44	3	2038	3	ITIH5	10	7628031	Splice_Site	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09		7628031	127906716	70	31871											
SLK	9748	genome.wustl.edu	37	chr10	105762560	105762560	+	Missense_Mutation	SNP	A	A	T	1	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	acaaaactcaaaaagatgtgAtcagcaatacaagtgatgtg	19	8	8	6	0	2	3	2	2	0	1	2	3	2	3	0	0	3	1	0	0	7	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr10:105762560A>T	ENST00000369755.3	+	9	2169	c.1624A>T	c.(1624-1626)Atc>Ttc	p.I542F	SLK_ENST00000335753.4_Missense_Mutation_p.I542F	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	542	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)		AAAAGATGTGATCAGCAATAC	0.433																																					NSCLC(111;540 1651 1927 4474 17706)												0													98	97	97					10																	105762560		2203	4300	6503	SO:0001583	missense	0				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.1624A>T	10.37:g.105762560A>T	ENSP00000358770:p.Ile542Phe		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_dom	p.I542F	ENST00000369755.3	37	c.1624	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	A	7.956	0.745950	0.15710	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.70516	-0.49;-0.49	6.03	-0.422	0.12329	Protein kinase-like domain (1);	0.508313	0.20035	N	0.100625	T	0.57388	0.2050	L	0.29908	0.895	0.09310	N	1	B;B	0.26258	0.145;0.09	B;B	0.29353	0.101;0.047	T	0.54186	-0.8331	10	0.62326	D	0.03	.	12.1069	0.53818	0.4885:0.0:0.5115:0.0	.	542;542	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	F	542	ENSP00000336824:I542F;ENSP00000358770:I542F	ENSP00000336824:I542F	I	+	1	0	SLK	105752550	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	0.378000	0.20569	-0.040000	0.13580	0.454000	0.30748	ATC	SLK	-	superfamily_Kinase-like_dom	ENSG00000065613		0.433	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	-	0	28	0	A	NM_014720		105762560	1	tier1	-	no_errors	ENST00000369755	ensembl	human	known	74_37	missense	31.25	21	10	SNP	0.000	T	T	105762560	A	T	105762560	3	4	122	1	0	0	0	0	1	0	0	0	14793	333	12	5	1658	5	SLK	10	105762560	Missense_Mutation	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09	98134529	105762560	29772187	71	31872											
FAM45A	404636	genome.wustl.edu	37	chr10	120871395	120871395	+	Missense_Mutation	SNP	A	A	T	1	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	tattgtcctgaccgccaaagAttttaacccagagaagtatg	13	11	8	9	1	0	3	0	1	0	2	1	4	1	3	4	0	1	1	4	0	5	5	rs371713194		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr10:120871395A>T	ENST00000361432.2	+	3	313	c.287A>T	c.(286-288)gAt>gTt	p.D96V	FAM45A_ENST00000535029.1_Missense_Mutation_p.D96V|FAM45A_ENST00000544016.1_5'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	96								p.D96A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ACCGCCAAAGATTTTAACCCA	0.299																																																	1	Substitution - Missense(1)	kidney(1)											144	145	145					10																	120871395		2203	4298	6501	SO:0001583	missense	0			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.287A>T	10.37:g.120871395A>T	ENSP00000354688:p.Asp96Val		B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	pfam_ABL9/DENND6_dom	p.D96V	ENST00000361432.2	37	c.287	CCDS7609.1	10	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256965	0.80246	.	.	ENSG00000119979	ENST00000535029;ENST00000546291;ENST00000361432	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.69851	0.3157	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.989;0.995;0.989	T	0.71507	-0.4572	9	0.54805	T	0.06	.	13.8633	0.63573	1.0:0.0:0.0:0.0	.	23;88;96	B4DNL9;Q8TCE6-2;Q8TCE6	.;.;FA45A_HUMAN	V	96	.	ENSP00000354688:D96V	D	+	2	0	FAM45A	120861385	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.057000	0.89457	2.078000	0.62432	0.460000	0.39030	GAT	FAM45A	-	NULL	ENSG00000119979		0.299	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM45A	HGNC	protein_coding	OTTHUMT00000050623.1		0	34	0	A	NM_207009		120871395	1			no_errors	ENST00000361432	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	120871395	A	T	120871395	3	4	122	1	0	0	0	0	1	0	0	0	5586	333	12	5	297	5	FAM45A	10	120871395	Missense_Mutation	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09	15108835	120871395	14663352	72	31873											
CYP2E1	1571	genome.wustl.edu	37	chr10	135345740	135345740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaagtttctaaggctgatGtatttgtttaatgagaactt	12	16	10	3	0	1	3	0	2	1	2	1	5	1	3	0	1	1	4	0	1	5	7			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr10:135345740G>T	ENST00000463117.2	+	6	872	c.600G>T	c.(598-600)atG>atT	p.M200I	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.M200I			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	200					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)	TAAGGCTGATGTATTTGTTTA	0.478									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													126	113	117					10																	135345740		2203	4300	6503	SO:0001583	missense	0	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.600G>T	10.37:g.135345740G>T	ENSP00000440689:p.Met200Ile		Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.M200I	ENST00000463117.2	37	c.600	CCDS7686.1	10	.	.	.	.	.	.	.	.	.	.	G	3.041	-0.197561	0.06259	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.59	2.74	0.32292	.	0.369364	0.37178	N	0.002215	T	0.45498	0.1345	N	0.12831	0.26	0.24069	N	0.995986	P;B	0.40834	0.73;0.24	B;B	0.40565	0.333;0.246	T	0.31364	-0.9946	10	0.25751	T	0.34	.	9.6041	0.39624	0.175:0.0:0.825:0.0	.	96;200	Q59EW1;P05181	.;CP2E1_HUMAN	I	200;200;113;63	ENSP00000440689:M200I;ENSP00000252945:M200I;ENSP00000412754:M113I;ENSP00000397299:M63I	ENSP00000252945:M200I	M	+	3	0	CYP2E1	135195730	0.244000	0.23889	0.004000	0.12327	0.120000	0.20174	0.761000	0.26489	0.866000	0.35629	0.655000	0.94253	ATG	CYP2E1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000130649		0.478	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2	-	0	31	0	G	NM_000773		135345740	1	tier1	-	no_errors	ENST00000252945	ensembl	human	known	74_37	missense	33.33	14	7	SNP	0.597	T	T	135345740	G	T	135345740	3	4	122	1	0	0	0	0	1	0	0	0	4179	1377	48	3	614	3	CYP2E1	10	135345740	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	14474345	135345740	189007	73	31874											
SERGEF	26297	genome.wustl.edu	37	chr11	17809891	17809891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccggctttggggccCagacgttggcttcagtgcca	5	9	13	14	2	1	1	1	0	0	1	1	1	1	1	4	4	2	4	4	4	0	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr11:17809891C>G	ENST00000265965.5	-	11	1269	c.1118G>C	c.(1117-1119)tGg>tCg	p.W373S	SERGEF_ENST00000528200.1_3'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	373					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTTTGGGGCCCAGACGTTGGC	0.607																																																	0													64	53	57					11																	17809891		2200	4293	6493	SO:0001583	missense	0			AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.1118G>C	11.37:g.17809891C>G	ENSP00000265965:p.Trp373Ser		Q9UGK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens	p.W373S	ENST00000265965.5	37	c.1118	CCDS7828.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.651|4.651	0.121051|0.121051	0.08881|0.08881	.|.	.|.	ENSG00000129158|ENSG00000129158	ENST00000529151|ENST00000265965	.|D	.|0.83506	.|-1.73	5.41|5.41	3.51|3.51	0.40186|0.40186	.|Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	.|0.364682	.|0.26535	.|N	.|0.023822	T|T	0.62368|0.62368	0.2422|0.2422	N|N	0.11341|0.11341	0.13|0.13	0.80722|0.80722	D|D	1|1	.|B	.|0.31503	.|0.326	.|B	.|0.32022	.|0.139	T|T	0.50939|0.50939	-0.8768|-0.8768	5|10	.|0.21014	.|T	.|0.42	-4.2328|-4.2328	4.0556|4.0556	0.09814|0.09814	0.1314:0.6:0.1273:0.1413|0.1314:0.6:0.1273:0.1413	.|.	.|373	.|Q9UGK8	.|SRGEF_HUMAN	R|S	237|373	.|ENSP00000265965:W373S	.|ENSP00000265965:W373S	G|W	-|-	1|2	0|0	SERGEF|SERGEF	17766467|17766467	0.756000|0.756000	0.28383|0.28383	0.996000|0.996000	0.52242|0.52242	0.353000|0.353000	0.29299|0.29299	0.089000|0.089000	0.15002|0.15002	0.625000|0.625000	0.30304|0.30304	0.561000|0.561000	0.74099|0.74099	GGG|TGG	SERGEF	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000129158		0.607	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERGEF	HGNC	protein_coding	OTTHUMT00000389538.1	-	0	39	0	C	NM_012139		17809891	-1	tier1	-	no_errors	ENST00000265965	ensembl	human	known	74_37	missense	26.53	36	13	SNP	0.996	G	G	17809891	C	G	17809891	3	3	122	1	0	0	0	0	1	0	0	0	14122	595	21	5	262	5	SERGEF	11	17809891	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09		17809891	117196625	74	31875											
MRGPRX1	259249	genome.wustl.edu	37	chr11	18955619	18955619	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacgtggatccataaaaatAggaaaaactgaatgccaaag	19	6	8	8	1	0	1	0	1	0	0	1	3	1	3	3	2	2	0	3	2	8	2			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr11:18955619A>G	ENST00000302797.3	-	1	937	c.713T>C	c.(712-714)cTa>cCa	p.L238P	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'Flank	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	238					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCATAAAAATAGGAAAAACTG	0.483																																																	0													71	64	66					11																	18955619		2194	4287	6481	SO:0001583	missense	0				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.713T>C	11.37:g.18955619A>G	ENSP00000305766:p.Leu238Pro		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L238P	ENST00000302797.3	37	c.713	CCDS7846.1	11	.	.	.	.	.	.	.	.	.	.	.	12.56	1.974217	0.34848	.	.	ENSG00000170255	ENST00000302797	T	0.44482	0.92	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.552403	0.15477	N	0.260271	T	0.68943	0.3056	M	0.94021	3.485	0.18873	N	0.999989	D	0.89917	1.0	D	0.85130	0.997	T	0.57487	-0.7803	10	0.87932	D	0	.	8.4333	0.32771	1.0:0.0:0.0:0.0	.	238	Q96LB2	MRGX1_HUMAN	P	238	ENSP00000305766:L238P	ENSP00000305766:L238P	L	-	2	0	MRGPRX1	18912195	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.460000	0.21924	1.292000	0.44672	0.402000	0.26972	CTA	MRGPRX1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000170255		0.483	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	-	0	73	0	A	NM_147199		18955619	-1	tier1	-	no_errors	ENST00000302797	ensembl	human	known	74_37	missense	25.88	63	22	SNP	0.003	G	G	18955619	A	G	18955619	3	3	122	1	0	0	0	0	1	0	0	0	9804	420	15	4	259	4	MRGPRX1	11	18955619	Missense_Mutation	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09	1145728	18955619	116050897	75	31876											
NAV2	89797	genome.wustl.edu	37	chr11	20066599	20066599	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctccccatcagatgcaggCcggagcagtggtgacgaatc	9	6	13	13	3	1	2	1	1	0	1	3	4	2	3	3	3	2	3	3	3	1	0			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr11:20066599C>A	ENST00000396087.3	+	15	3453	c.3354C>A	c.(3352-3354)ggC>ggA	p.G1118G	NAV2_ENST00000396085.1_Silent_p.G1095G|NAV2_ENST00000540292.1_Silent_p.G1049G|NAV2_ENST00000533917.1_Silent_p.G181G|NAV2_ENST00000527559.2_Silent_p.G1047G|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Silent_p.G1031G|NAV2_ENST00000349880.4_Silent_p.G1095G|NAV2_ENST00000311043.8_Silent_p.G181G	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1118					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						CAGATGCAGGCCGGAGCAGTG	0.537																																																	0													68	62	64					11																	20066599		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3354C>A	11.37:g.20066599C>A			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.G1118	ENST00000396087.3	37	c.3354	CCDS58126.1	11																																																																																			NAV2	-	NULL	ENSG00000166833		0.537	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0	43	0	C	NM_145117		20066599	1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.680	A	A	20066599	C	A	20066599	2	1	122	1	0	0	0	0	0	0	0	1	10222	726	26	3		3	NAV2	11	20066599	Silent	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	1110980	20066599	114939917	76	31877											
OR5D13	390142	genome.wustl.edu	37	chr11	55541412	55541412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactcacatattttcttcttGacttatcgttttgtgaatct	8	21	4	8	1	4	2	1	2	3	0	5	2	4	2	0	0	1	1	0	0	4	9			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr11:55541412G>A	ENST00000361760.1	+	1	499	c.499G>A	c.(499-501)Gac>Aac	p.D167N		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	167						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTTTCTTCTTGACTTATCGTT	0.423																																																	0													145	142	143					11																	55541412		2200	4296	6496	SO:0001583	missense	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.499G>A	11.37:g.55541412G>A	ENSP00000354800:p.Asp167Asn		Q6IF68|Q6IFC9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D167N	ENST00000361760.1	37	c.499	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	G	9.001	0.980129	0.18812	.	.	ENSG00000198877	ENST00000361760	T	0.00091	8.74	3.3	-1.14	0.09741	GPCR, rhodopsin-like superfamily (1);	2.938900	0.01818	U	0.033877	T	0.00073	0.0002	N	0.01410	-0.885	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.24190	-1.0167	10	0.52906	T	0.07	1.1767	4.5214	0.11960	0.4235:0.3397:0.2368:0.0	.	167	Q8NGL4	OR5DD_HUMAN	N	167	ENSP00000354800:D167N	ENSP00000354800:D167N	D	+	1	0	OR5D13	55297988	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.294000	0.00523	-0.064000	0.13043	-0.400000	0.06385	GAC	OR5D13	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198877		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	-	0	51	0	G	NM_001001967		55541412	1	tier1	-	no_errors	ENST00000361760	ensembl	human	known	74_37	missense	19.30	46	11	SNP	0.000	A	A	55541412	G	A	55541412	3	1	122	1	0	0	0	0	1	0	0	0	11193	1290	45	3	501	3	OR5D13	11	55541412	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	35474813	55541412	79465104	77	31878											
ZFP91	80829	genome.wustl.edu	37	chr11	58384886	58384886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccctcatcaccagcacaGatatcttgggcactaaccca	11	7	7	16	1	3	1	2	0	1	1	3	1	3	1	3	1	2	2	3	1	2	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr11:58384886G>T	ENST00000316059.6	+	11	1591	c.1420G>T	c.(1420-1422)Gat>Tat	p.D474Y	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.D474Y	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	474					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)	p.D474H(2)		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)				CACCAGCACAGATATCTTGGG	0.557																																																	2	Substitution - Missense(2)	large_intestine(2)											61	56	57					11																	58384886		2201	4295	6496	SO:0001583	missense	0			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.1420G>T	11.37:g.58384886G>T	ENSP00000339030:p.Asp474Tyr		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D474Y	ENST00000316059.6	37	c.1420	CCDS31553.1	11	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758248	0.69763	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.12147	2.71	6.16	6.16	0.99307	.	0.384489	0.26324	N	0.025022	T	0.27384	0.0672	L	0.27053	0.805	0.49483	D	0.999791	D;D	0.71674	0.998;0.996	D;P	0.68039	0.955;0.903	T	0.00489	-1.1709	10	0.66056	D	0.02	-18.5381	19.6313	0.95704	0.0:0.0:1.0:0.0	.	474;474	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	Y	474	ENSP00000339030:D474Y	ENSP00000374569:D474Y	D	+	1	0	ZFP91	58141462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.597000	0.74118	2.937000	0.99478	0.650000	0.86243	GAT	ZFP91	-	NULL	ENSG00000186660		0.557	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP91	HGNC	protein_coding	OTTHUMT00000268674.1	-	0	35	0	G	NM_053023		58384886	1	tier1	-	no_errors	ENST00000316059	ensembl	human	known	74_37	missense	76.47	8	26	SNP	1.000	T	T	58384886	G	T	58384886	3	4	122	1	0	0	0	0	1	0	0	0	17703	942	33	3	1462	3	ZFP91	11	58384886	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	2843474	58384886	76621630	78	31879											
OR10G7	390265	genome.wustl.edu	37	chr11	123908903	123908903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtagaaaacggccacaaccCcatgcaaggcgtccctggag	12	5	11	13	2	0	1	0	0	0	1	1	2	1	2	4	3	3	2	4	3	5	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr11:123908903C>G	ENST00000330487.5	-	1	814	c.806G>C	c.(805-807)gGg>gCg	p.G269A		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		GGCCACAACCCCATGCAAGGC	0.517																																																	0													100	90	94					11																	123908903		2200	4299	6499	SO:0001583	missense	0			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.806G>C	11.37:g.123908903C>G	ENSP00000329689:p.Gly269Ala		Q6IFE8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G269A	ENST00000330487.5	37	c.806	CCDS31705.1	11	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.661680	0.00772	.	.	ENSG00000182634	ENST00000330487	T	0.00044	8.83	3.38	-1.38	0.09027	GPCR, rhodopsin-like superfamily (1);	0.358709	0.20313	N	0.094782	T	0.00073	0.0002	N	0.12182	0.205	0.09310	N	1	B	0.15141	0.012	B	0.26310	0.068	T	0.31668	-0.9935	10	0.40728	T	0.16	.	1.4494	0.02372	0.2329:0.2042:0.3731:0.1898	.	269	Q8NGN6	O10G7_HUMAN	A	269	ENSP00000329689:G269A	ENSP00000329689:G269A	G	-	2	0	OR10G7	123414113	0.000000	0.05858	0.010000	0.14722	0.169000	0.22640	0.074000	0.14662	-0.046000	0.13446	0.557000	0.71058	GGG	OR10G7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000182634		0.517	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	HGNC	protein_coding	OTTHUMT00000387271.1	-	0	108	0	C	NM_001004463		123908903	-1	tier1	-	no_errors	ENST00000330487	ensembl	human	known	74_37	missense	53.40	48	55	SNP	0.000	G	G	123908903	C	G	123908903	3	3	122	1	0	0	0	0	1	0	0	0	10941	623	22	5	133	5	OR10G7	11	123908903	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	65524017	123908903	11097613	79	31880											
CD9	928	genome.wustl.edu	37	chr12	6309666	6309667	+	Start_Codon_Ins	INS	-	-	T																															ggctaagttagccctcaccaINStgccggtcaaaggaggcacc																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:6309666_6309667insT	ENST00000382518.1	+	0	437_438				CD9_ENST00000009180.4_Start_Codon_Ins|CD9_ENST00000382515.2_5'Flank			P21926	CD9_HUMAN	CD9 molecule						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						AGCCCTCACCATGCCGGTCAAA	0.634																																																	0																																										SO:0001582	initiator_codon_variant	0			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.2dupT	12.37:g.6309667_6309667dupT			D3DUQ9|Q5J7W6|Q96ES4	Frame_Shift_Ins	INS	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.M1fs	ENST00000382518.1	37	c.1_2	CCDS8540.1	12																																																																																			CD9	-	NULL	ENSG00000010278		0.634	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	CD9	HGNC	protein_coding	OTTHUMT00000103348.1		0	68	0	-			6309667	1	tier1		no_errors	ENST00000009180	ensembl	human	known	74_37	frame_shift_ins	26.58	58	21	INS	1.000:1.000	T	T	6309667	-	T	6309666	7	5	122	1	0	1	1	0	0	0	0	0	3053	217	8	0	3	0	CD9	12	6309666	Start_Codon_Ins	INS	-	TCGA-LN-A5U6-01A-11D-A28B-09		6309666	127542229	80	31881											
PEX5	5830	genome.wustl.edu	37	chr12	7343151	7343151	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggtggaaagcccaggtGcagcctctgaggcagtgagt	9	8	16	8	0	1	3	0	3	1	0	1	4	1	4	2	4	3	2	2	4	1	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:7343151G>C	ENST00000455147.2	+	3	727				PEX5_ENST00000412720.2_Intron|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000434354.2_Missense_Mutation_p.A60P|PEX5_ENST00000420616.2_Intron|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000266563.5_Intron|PEX5_ENST00000266564.3_Intron|RP11-273B20.3_ENST00000545794.1_RNA	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AAGCCCAGGTGCAGCCTCTGA	0.632																																																	0													10	12	12					12																	7343151		2163	4228	6391	SO:0001627	intron_variant	0			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.147+31G>C	12.37:g.7343151G>C			A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A60P	ENST00000455147.2	37	c.178	CCDS44823.1	12	.	.	.	.	.	.	.	.	.	.	G	4.863	0.160424	0.09287	.	.	ENSG00000139197	ENST00000434354;ENST00000396637	D;D	0.87650	-2.28;-2.1	.	.	.	.	.	.	.	.	T	0.73024	0.3534	.	.	.	0.09310	N	0.999999	P	0.42993	0.797	B	0.31191	0.125	T	0.61525	-0.7045	5	.	.	.	.	.	.	.	.	60	B4DZ45	.	P	60	ENSP00000407401:A60P;ENSP00000379877:A60P	.	A	+	1	0	PEX5	7234418	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	0.032000	0.13732	0.502000	0.28037	0.000000	0.15137	GCA	PEX5	-	NULL	ENSG00000139197		0.632	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	-	0	44	0	G	NM_000319		7343151	1	tier1	-	no_errors	ENST00000434354	ensembl	human	known	74_37	missense	11.29	55	7	SNP	0.005	C	C	7343151	G	C	7343151	1	2	122	0	1	0	0	0	0	0	0	0	11787	1319	46	5		5	PEX5	12	7343151	Intron	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	1033485	7343151	126508744	81	31882											
RIMKLB	57494	genome.wustl.edu	37	chr12	8904626	8904626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatggtagtaaagaatacGcggggtcacagaggtatgta	14	8	13	6	2	1	2	1	0	0	2	1	2	1	2	1	4	1	4	1	4	8	5			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:8904626G>A	ENST00000538135.1	+	4	1305	c.480G>A	c.(478-480)acG>acA	p.T160T	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Silent_p.T160T|RIMKLB_ENST00000357529.3_Silent_p.T160T			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	160	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				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						TAAAGAATACGCGGGGTCACA	0.368																																																	0													153	141	145					12																	8904626		1849	4084	5933	SO:0001819	synonymous_variant	0			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.480G>A	12.37:g.8904626G>A			B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.T160	ENST00000538135.1	37	c.480	CCDS41748.1	12																																																																																			RIMKLB	-	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	ENSG00000166532		0.368	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLB	HGNC	protein_coding	OTTHUMT00000398874.1	-	0	107	0	G	NM_020734		8904626	1	tier1	-	no_errors	ENST00000357529	ensembl	human	known	74_37	silent	25.00	75	25	SNP	0.980	A	A	8904626	G	A	8904626	2	1	122	1	0	0	0	0	0	0	0	1	13411	1074	38	1		1	RIMKLB	12	8904626	Silent	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	1561475	8904626	124947269	82	31883											
DIP2B	57609	genome.wustl.edu	37	chr12	51064999	51064999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctctgaggatgagggctCtctgagacgccaagctgcgc	7	7	15	12	2	2	3	0	3	2	1	3	5	2	4	2	3	2	2	2	3	1	0			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:51064999C>T	ENST00000301180.5	+	5	492	c.458C>T	c.(457-459)tCt>tTt	p.S153F		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	153	Ser-rich.					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						GATGAGGGCTCTCTGAGACGC	0.478																																																	0													104	91	96					12																	51064999		2203	4300	6503	SO:0001583	missense	0			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.458C>T	12.37:g.51064999C>T	ENSP00000301180:p.Ser153Phe		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.S153F	ENST00000301180.5	37	c.458	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243477	0.79912	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.27890	1.64	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.978;0.998	P;P	0.62014	0.853;0.897	T	0.43163	-0.9408	10	0.52906	T	0.07	-15.9485	19.1481	0.93476	0.0:1.0:0.0:0.0	.	153;163	Q9P265;E9PHD6	DIP2B_HUMAN;.	F	163;153	ENSP00000301180:S153F	ENSP00000301180:S153F	S	+	2	0	DIP2B	49351266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.762000	0.94881	0.591000	0.81541	TCT	DIP2B	-	NULL	ENSG00000066084		0.478	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	-	0	43	0	C	NM_173602		51064999	1	tier1	-	no_errors	ENST00000301180	ensembl	human	known	74_37	missense	36.73	31	18	SNP	1.000	T	T	51064999	C	T	51064999	3	4	122	1	0	0	0	0	1	0	0	0	4542	913	32	3	476	3	DIP2B	12	51064999	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	42160373	51064999	82786896	83	31884											
ACSS3	79611	genome.wustl.edu	37	chr12	81536947	81536947	+	Missense_Mutation	SNP	A	A	T	1	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	tgaagagatggcaaaagcccAgtcacatgactgtgttcctg	12	9	11	9	0	1	3	1	2	0	1	2	4	2	3	2	1	1	2	2	1	3	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:81536947A>T	ENST00000548058.1	+	5	1752	c.842A>T	c.(841-843)cAg>cTg	p.Q281L	ACSS3_ENST00000261206.3_Missense_Mutation_p.Q280L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	281						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						GCAAAAGCCCAGTCACATGAC	0.443																																																	0													129	117	121					12																	81536947		2203	4300	6503	SO:0001583	missense	0				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.842A>T	12.37:g.81536947A>T	ENSP00000449535:p.Gln281Leu		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q281L	ENST00000548058.1	37	c.842	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242521	0.58995	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.10005	2.92;2.92	5.58	5.58	0.84498	AMP-dependent synthetase/ligase (1);	0.197183	0.56097	D	0.000032	T	0.09291	0.0229	N	0.16743	0.435	0.80722	D	1	B	0.33777	0.425	B	0.36808	0.233	T	0.37244	-0.9714	10	0.30854	T	0.27	-9.2964	16.0529	0.80775	1.0:0.0:0.0:0.0	.	281	Q9H6R3	ACSS3_HUMAN	L	281;280	ENSP00000449535:Q281L;ENSP00000261206:Q280L	ENSP00000261206:Q280L	Q	+	2	0	ACSS3	80061078	0.999000	0.42202	0.995000	0.50966	0.990000	0.78478	5.011000	0.64011	2.257000	0.74773	0.459000	0.35465	CAG	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.443	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0	62	0	A	NM_024560		81536947	1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	missense	38.18	34	21	SNP	1.000	T	T	81536947	A	T	81536947	3	4	122	1	0	0	0	0	1	0	0	0	190	188	7	5	860	5	ACSS3	12	81536947	Missense_Mutation	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09	30471948	81536947	52314948	84	31885											
BTG1	694	genome.wustl.edu	37	chr12	92539233	92539234	+	Frame_Shift_Ins	INS	-	-	A																															ctcgtgagccccttggtgcgINSgagaaacttggagatgaagg																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:92539233_92539234insA	ENST00000256015.3	-	1	439_440	c.78_79insT	c.(76-81)ctccgcfs	p.R27fs	RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000551563.2_5'Flank|C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	27					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CCCTTGGTGCGGAGAAACTTGG	0.693			T	MYC	BCLL																																			Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	0																																										SO:0001589	frameshift_variant	0				CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.78_79insT	12.37:g.92539233_92539234insA	ENSP00000256015:p.Arg27fs		P31607	Frame_Shift_Ins	INS	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.R26fs	ENST00000256015.3	37	c.79_78	CCDS9043.1	12																																																																																			BTG1	-	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	ENSG00000133639		0.693	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTG1	HGNC	protein_coding	OTTHUMT00000407227.1		0	44	0	-			92539234	-1	tier1		no_errors	ENST00000256015	ensembl	human	known	74_37	frame_shift_ins	39.39	40	26	INS	1.000:1.000	A	A	92539234	-	A	92539233	7	5	122	1	0	1	1	0	0	0	0	0	1557	1116	39	0	444	0	BTG1	12	92539233	Frame_Shift_Ins	INS	-	TCGA-LN-A5U6-01A-11D-A28B-09	11002286	92539233	41312662	85	31886											
NTN4	59277	genome.wustl.edu	37	chr12	96180836	96180837	+	Missense_Mutation	DNP	GC	GC	AA																															agtcgcaaagtacttataagGcttccatgttttcccaaagt																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr12:96180836_96180837GC>AA	ENST00000343702.4	-	2	913_914	c.465_466GC>TT	c.(463-468)aaGCct>aaTTct	p.155_156KP>NS	NTN4_ENST00000538383.1_Missense_Mutation_p.118_119KP>NS|NTN4_ENST00000344911.4_Missense_Mutation_p.118_119KP>NS|NTN4_ENST00000553059.1_Missense_Mutation_p.155_156KP>NS	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	155	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TACTTATAAGGCTTCCATGTTT	0.475																																																	0																																										SO:0001583	missense	0			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.465_466delinsAA	12.37:g.96180836_96180837delinsAA	ENSP00000340998:p.K155_P156delinsNS		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.P156S|p.K155N	ENST00000343702.4	37	c.466|c.465	CCDS9054.1	12																																																																																			NTN4	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N	ENSG00000074527		0.475	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	HGNC	protein_coding	OTTHUMT00000408372.1	-	0	49|48	0	G|C	NM_021229		96180836|96180837	-1	tier1	-	no_errors	ENST00000343702	ensembl	human	known	74_37	missense	24.56|25.00	43|42	14	SNP	1.000	A	AA	96180837	GC	AA	96180836	3	1	122	1	0	0	0	0	1	0	0	0	10741	1203	42	3	1456	3	NTN4	12	96180836	Missense_Mutation	DNP	GC	TCGA-LN-A5U6-01A-11D-A28B-09	3641603	96180836	37671059	86	31887											
MTUS2	23281	genome.wustl.edu	37	chr13	29675068	29675068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtctccagcacccagtccGgggacagtgcacagccagag	10	4	12	15	1	1	1	0	0	1	1	3	2	2	2	4	2	3	2	4	2	0	0	rs372355162		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr13:29675068G>T	ENST00000431530.3	+	3	2693	c.2635G>T	c.(2635-2637)Ggg>Tgg	p.G879W		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	869	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CACCCAGTCCGGGGACAGTGC	0.642																																																	0													7	7	7					13																	29675068		2006	4160	6166	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2635G>T	13.37:g.29675068G>T	ENSP00000392057:p.Gly879Trp		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.G879W	ENST00000431530.3	37	c.2635	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	G	9.779	1.174867	0.21704	.	.	ENSG00000132938	ENST00000431530	T	0.11604	2.76	5.66	-2.38	0.06622	.	2.588180	0.01281	N	0.009730	T	0.06781	0.0173	N	0.08118	0	0.09310	N	0.999996	P	0.45827	0.867	P	0.47470	0.548	T	0.03829	-1.1000	9	.	.	.	.	0.1044	0.00051	0.3147:0.2363:0.1686:0.2804	.	869	Q5JR59	MTUS2_HUMAN	W	879	ENSP00000392057:G879W	.	G	+	1	0	MTUS2	28573068	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.318000	0.19504	-0.643000	0.05473	-1.008000	0.02478	GGG	MTUS2	-	NULL	ENSG00000132938		0.642	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	-	0	40	0	G	XM_166270		29675068	1	tier1	-	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	35.71	54	30	SNP	0.000	T	T	29675068	G	T	29675068	3	4	122	1	0	0	0	0	1	0	0	0	10004	1116	39	2	2645	2	MTUS2	13	29675068	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09		29675068	85494810	87	31888											
FREM2	341640	genome.wustl.edu	37	chr13	39438423	39438423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcataggcatgctccccGtgatctccactagagagctt	9	12	8	12	1	2	2	1	1	1	1	4	3	3	2	3	1	2	3	3	1	3	4	rs200997496	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr13:39438423G>A	ENST00000280481.7	+	16	7879	c.7663G>A	c.(7663-7665)Gtg>Atg	p.V2555M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2555					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)		CATGCTCCCCGTGATCTCCAC	0.408																																																	0													63	59	60					13																	39438423		2203	4300	6503	SO:0001583	missense	0			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.7663G>A	13.37:g.39438423G>A	ENSP00000280481:p.Val2555Met		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.V2555M	ENST00000280481.7	37	c.7663	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980951	0.74474	.	.	ENSG00000150893	ENST00000280481	T	0.24350	1.86	5.81	4.97	0.65823	.	0.066892	0.64402	D	0.000013	T	0.47710	0.1460	M	0.82517	2.595	0.46396	D	0.99902	D;D	0.65815	0.995;0.985	P;P	0.58391	0.838;0.693	T	0.53795	-0.8388	10	0.72032	D	0.01	.	11.0803	0.48055	0.1417:0.0:0.8583:0.0	.	2555;2555	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	M	2555	ENSP00000280481:V2555M	ENSP00000280481:V2555M	V	+	1	0	FREM2	38336423	1.000000	0.71417	0.662000	0.29724	0.902000	0.53008	5.761000	0.68801	1.466000	0.48025	0.650000	0.86243	GTG	FREM2	-	NULL	ENSG00000150893		0.408	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	39	0	G	NM_207361		39438423	1	tier1	rs200997496	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.993	A	A	39438423	G	A	39438423	3	1	122	1	0	0	0	0	1	0	0	0	6069	1145	40	1	7725	1	FREM2	13	39438423	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	9763355	39438423	75731455	88	31889											
NAA16	79612	genome.wustl.edu	37	chr13	41932534	41932534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacagtattctttggctttGgattatattaatgctgcaat	10	17	9	5	0	1	0	0	0	1	0	1	2	1	2	0	3	2	4	0	3	5	7			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr13:41932534G>T	ENST00000379406.3	+	11	1506	c.1182G>T	c.(1180-1182)ttG>ttT	p.L394F	NAA16_ENST00000403412.3_Missense_Mutation_p.L394F|NAA16_ENST00000379367.3_Missense_Mutation_p.L394F	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	394					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						CTTTGGCTTTGGATTATATTA	0.368																																																	0													93	92	92					13																	41932534		2203	4300	6503	SO:0001583	missense	0			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.1182G>T	13.37:g.41932534G>T	ENSP00000368716:p.Leu394Phe		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L394F	ENST00000379406.3	37	c.1182	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505889	0.26949	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.69175	0.64;0.64;-0.38	4.82	2.68	0.31781	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.52532	D	0.000076	T	0.78874	0.4352	M	0.79475	2.455	0.54753	D	0.999985	P;D	0.89917	0.886;1.0	P;D	0.97110	0.744;1.0	T	0.79176	-0.1911	10	0.62326	D	0.03	-5.581	9.4543	0.38745	0.2627:0.0:0.7373:0.0	.	394;394	Q6N069;Q6N069-4	NAA16_HUMAN;.	F	394	ENSP00000368674:L394F;ENSP00000368716:L394F;ENSP00000386103:L394F	ENSP00000368674:L394F	L	+	3	2	NAA16	40830534	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	1.682000	0.37628	1.005000	0.39183	0.484000	0.47621	TTG	NAA16	-	smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom	ENSG00000172766		0.368	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	-	0	62	0	G	NM_018527		41932534	1	tier1	-	no_errors	ENST00000379406	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.999	T	T	41932534	G	T	41932534	3	4	122	1	0	0	0	0	1	0	0	0	10157	1339	47	3	1224	3	NAA16	13	41932534	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	2494111	41932534	73237344	89	31890											
MYO16	23026	genome.wustl.edu	37	chr13	109704676	109704676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcgtgatcaatcatttGttccagtcgaaattgtcaca	12	14	7	8	2	3	1	3	1	0	0	6	2	4	1	1	0	0	1	1	0	3	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr13:109704676G>T	ENST00000357550.2	+	24	2876	c.2835G>T	c.(2833-2835)ttG>ttT	p.L945F	MYO16_ENST00000457511.2_Missense_Mutation_p.L457F|MYO16_ENST00000356711.2_Missense_Mutation_p.L945F	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)			TCAATCATTTGTTCCAGTCGA	0.358																																																	0													129	110	117					13																	109704676		2203	4300	6503	SO:0001583	missense	0				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.2835G>T	13.37:g.109704676G>T	ENSP00000350160:p.Leu945Phe			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L945F	ENST00000357550.2	37	c.2835	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107624	0.77096	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511	D;D;D	0.96427	-4.01;-4.01;-4.01	5.96	5.96	0.96718	Myosin head, motor domain (2);	0.000000	0.33346	U	0.005005	D	0.97860	0.9297	M	0.73319	2.225	0.44247	D	0.997093	D;D;D	0.71674	0.998;0.993;0.998	D;D;D	0.74348	0.97;0.932;0.983	D	0.97509	1.0065	9	.	.	.	.	19.3889	0.94570	0.0:0.0:1.0:0.0	.	457;945;945	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	F	945;945;733;457	ENSP00000349145:L945F;ENSP00000350160:L945F;ENSP00000401633:L457F	.	L	+	3	2	MYO16	108502677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.635000	0.46537	2.826000	0.97356	0.655000	0.94253	TTG	MYO16	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000041515		0.358	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0	33	0	G	NM_015011		109704676	1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	15.71	59	11	SNP	1.000	T	T	109704676	G	T	109704676	3	4	122	1	0	0	0	0	1	0	0	0	10102	1368	48	3	2929	3	MYO16	13	109704676	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	67772142	109704676	5465202	90	31891											
EXD2	55218	genome.wustl.edu	37	chr14	69701701	69701701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaaccaccaagggagagaCcccagaaaacataaaagaaa	21	1	9	10	0	0	3	0	0	0	3	0	5	0	4	4	2	2	1	4	2	7	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr14:69701701C>A	ENST00000409018.3	+	5	1130	c.1002C>A	c.(1000-1002)gaC>gaA	p.D334E	EXD2_ENST00000312994.5_Missense_Mutation_p.D334E|EXD2_ENST00000409675.1_Missense_Mutation_p.D209E|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.D209E|EXD2_ENST00000409242.1_Missense_Mutation_p.D209E|EXD2_ENST00000409949.1_Missense_Mutation_p.D209E|EXD2_ENST00000409014.1_Missense_Mutation_p.D209E	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	334							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AAGGGAGAGACCCCAGAAAAC	0.488																																																	0													38	44	42					14																	69701701		2203	4300	6503	SO:0001583	missense	0			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1002C>A	14.37:g.69701701C>A	ENSP00000387331:p.Asp334Glu		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.D334E	ENST00000409018.3	37	c.1002	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805675	0.50315	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.62232	0.41;0.04;0.04;0.04;0.04;0.41;0.04	5.56	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	M	0.68317	2.08	0.58432	D	0.999999	P;B;B	0.36144	0.539;0.086;0.138	B;B;B	0.34824	0.19;0.032;0.082	T	0.49542	-0.8929	10	0.23302	T	0.38	-25.6944	7.0792	0.25221	0.0:0.7615:0.0:0.2385	.	334;209;209	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	E	334;209;209;209;209;334;209	ENSP00000387331:D334E;ENSP00000386915:D209E;ENSP00000386762:D209E;ENSP00000386632:D209E;ENSP00000386839:D209E;ENSP00000313140:D334E;ENSP00000392177:D209E	ENSP00000313140:D334E	D	+	3	2	EXD2	68771454	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.169000	0.42434	2.776000	0.95493	0.650000	0.86243	GAC	EXD2	-	NULL	ENSG00000081177		0.488	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	-	0	32	0	C			69701701	1	tier1	-	no_errors	ENST00000312994	ensembl	human	known	74_37	missense	71.05	11	27	SNP	1.000	A	A	69701701	C	A	69701701	3	1	122	1	0	0	0	0	1	0	0	0	5314	506	18	3	637	3	EXD2	14	69701701	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09		69701701	37647839	91	31892											
KLC1	3831	genome.wustl.edu	37	chr14	104139456	104139456	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tagaatattattatcaaagaGccctcgagatctaccagaca	16	10	6	9	1	2	4	1	0	1	4	3	5	2	4	2	0	2	0	2	0	7	5			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr14:104139456G>A	ENST00000348520.6	+	8	1412	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	KLC1_ENST00000246489.7_Missense_Mutation_p.A365T|KLC1_ENST00000555836.1_Missense_Mutation_p.A365T|KLC1_ENST00000554280.1_Missense_Mutation_p.A365T|KLC1_ENST00000557575.1_Missense_Mutation_p.A365T|KLC1_ENST00000347839.6_Missense_Mutation_p.A365T|KLC1_ENST00000389744.4_Missense_Mutation_p.A365T|KLC1_ENST00000334553.6_Missense_Mutation_p.A365T|KLC1_ENST00000553286.1_Missense_Mutation_p.A365T|KLC1_ENST00000452929.2_Missense_Mutation_p.A365T|KLC1_ENST00000557450.1_Missense_Mutation_p.A365T|KLC1_ENST00000380038.3_Missense_Mutation_p.A365T|KLC1_ENST00000445352.4_Missense_Mutation_p.A363T|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.A537T	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	365					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TTATCAAAGAGCCCTCGAGAT	0.488																																																	0													67	63	65					14																	104139456		2203	4300	6503	SO:0001583	missense	0			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"Tetratricopeptide (TTC) repeat domain containing"	6387	protein-coding gene	gene with protein product		600025	"kinesin 2 60/70kDa", "kinesin 2"	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1093G>A	14.37:g.104139456G>A	ENSP00000341154:p.Ala365Thr		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.A365T	ENST00000348520.6	37	c.1093	CCDS41996.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.469662	0.96274	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	M	0.92367	3.3	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.974;0.993;1.0	D	0.99032	1.0821	10	0.59425	D	0.04	-11.1201	20.2789	0.98501	0.0:0.0:1.0:0.0	.	365;365;537;365;363	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	T	365;365;365;365;365;365;365;365;365;365;365;365;365;363;537	ENSP00000341154:A365T;ENSP00000369377:A365T;ENSP00000374394:A365T;ENSP00000450617:A365T;ENSP00000452487:A365T;ENSP00000334618:A365T;ENSP00000452481:A365T;ENSP00000334523:A365T;ENSP00000246489:A365T;ENSP00000450648:A365T;ENSP00000451242:A365T;ENSP00000414982:A365T;ENSP00000412693:A363T;ENSP00000439065:A537T	ENSP00000246489:A365T	A	+	1	0	KLC1;RP11-73M18.2	103209209	1.000000	0.71417	0.959000	0.39883	0.845000	0.48019	9.862000	0.99564	2.788000	0.95919	0.650000	0.86243	GCC	KLC1	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000126214		0.488	KLC1-001	KNOWN	basic|CCDS	protein_coding	KLC1	HGNC	protein_coding	OTTHUMT00000402947.2	-	0	47	0	G	NM_005552		104139456	1	tier1	-	no_errors	ENST00000334553	ensembl	human	known	74_37	missense	25.00	33	11	SNP	1.000	A	A	104139456	G	A	104139456	3	1	122	1	0	0	0	0	1	0	0	0	8360	971	34	3	1119	3	KLC1	14	104139456	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	34437755	104139456	3210084	92	31893											
TUBGCP5	114791	genome.wustl.edu	37	chr15	22855120	22855120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaatgaagaaaaaatGagtgataacgctagtgcgag	20	6	11	4	2	0	5	0	3	0	2	0	6	0	5	0	0	2	1	0	0	8	2			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr15:22855120G>T	ENST00000283645.4	+	13	1711	c.1581G>T	c.(1579-1581)atG>atT	p.M527I	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.M527I	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	527					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AAGAAAAAATGAGTGATAACG	0.438																																																	0													83	78	80					15																	22855120		2203	4300	6503	SO:0001583	missense	0			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1581G>T	15.37:g.22855120G>T	ENSP00000283645:p.Met527Ile		E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	pfam_TUBGCP	p.M527I	ENST00000283645.4	37	c.1581	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519491	0.44866	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.24723	1.84;1.84	4.88	4.88	0.63580	.	0.263210	0.43579	D	0.000553	T	0.24812	0.0602	L	0.36672	1.1	0.39912	D	0.974047	B;B;B	0.17268	0.008;0.008;0.021	B;B;B	0.21360	0.034;0.034;0.034	T	0.04333	-1.0959	10	0.38643	T	0.18	-7.9985	18.5854	0.91187	0.0:0.0:1.0:0.0	.	527;527;527	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	I	527	ENSP00000283645:M527I;ENSP00000409217:M527I	ENSP00000283645:M527I	M	+	3	0	TUBGCP5	20406561	1.000000	0.71417	0.738000	0.30950	0.996000	0.88848	3.679000	0.54634	2.686000	0.91538	0.655000	0.94253	ATG	TUBGCP5	-	pfam_TUBGCP	ENSG00000153575		0.438	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2		0	44	0	G	NM_052903		22855120	1			no_errors	ENST00000283645	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	22855120	G	T	22855120	3	4	122	1	0	0	0	0	1	0	0	0	16818	1290	45	3	1631	3	TUBGCP5	15	22855120	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09		22855120	79676272	93	31894											
GOLGA8A	23015	genome.wustl.edu	37	chr15	34674006	34674006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ggaatttgccgtgcccctcgCtgtagctgccacaagccgca	7	8	11	15	3	0	0	0	0	0	0	1	1	0	1	5	1	5	4	5	1	3	2	rs238639	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr15:34674006C>T	ENST00000359187.4	-	15	1569	c.1505G>A	c.(1504-1506)aGc>aAc	p.S502N	MIR1233-1_ENST00000408722.1_RNA|GOLGA8A_ENST00000543376.1_Missense_Mutation_p.S359N|GOLGA8A_ENST00000432566.2_Missense_Mutation_p.S532N|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.S502N	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	530						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)		GTGCCCCTCGCTGTAGCTGCC	0.677																																																	0													1	1	1					15																	34674006		324	759	1083	SO:0001583	missense	0			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.1505G>A	15.37:g.34674006C>T	ENSP00000352111:p.Ser502Asn		A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.S532N	ENST00000359187.4	37	c.1595	CCDS10038.1	15	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.496816	0.00159	.	.	ENSG00000175265	ENST00000359187;ENST00000360553;ENST00000432566;ENST00000543376	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	0.514	-1.03	0.10102	.	.	.	.	.	T	0.02455	0.0075	N	0.00197	-1.87	0.80722	P	0.0	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.42137	-0.9469	8	0.02654	T	1	.	4.1473	0.10222	0.0:0.2623:0.0:0.7377	.	502;530	A7E2F4-3;A7E2F4	.;GOG8A_HUMAN	N	502;502;532;359	ENSP00000352111:S502N;ENSP00000353755:S502N;ENSP00000402791:S532N;ENSP00000438613:S359N	ENSP00000352111:S502N	S	-	2	0	GOLGA8A	32461298	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	1.565000	0.36386	-0.443000	0.07180	-0.982000	0.02568	AGC	GOLGA8A	-	NULL	ENSG00000175265		0.677	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8A	HGNC	protein_coding	OTTHUMT00000251830.2	-	0	14	0	C	NM_181076		34674006	-1	tier1	rs201334463	no_errors	ENST00000432566	ensembl	human	known	74_37	missense	36.36	7	4	SNP	0.185	T	T	34674006	C	T	34674006	3	4	122	1	0	0	0	0	1	0	0	0	6589	797	28	3	314	3	GOLGA8A	15	34674006	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	11818886	34674006	67857386	94	31895											
SLC12A1	6557	genome.wustl.edu	37	chr15	48595067	48595067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaatcacaaaaatgtcttGacattttactcttaaaacat	17	13	4	7	0	3	1	1	1	2	0	3	2	3	2	0	1	2	0	0	1	6	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr15:48595067G>C	ENST00000558405.1	+	26	3299	c.3285G>C	c.(3283-3285)ttG>ttC	p.L1095F	SLC12A1_ENST00000396577.3_Missense_Mutation_p.L1095F|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L1095F			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	1095					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)	AAAATGTCTTGACATTTTACT	0.328																																																	0													71	73	72					15																	48595067		2198	4297	6495	SO:0001583	missense	0				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.3285G>C	15.37:g.48595067G>C	ENSP00000453409:p.Leu1095Phe		A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L1095F	ENST00000558405.1	37	c.3285	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309700	0.60414	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.88431	-2.38;-2.37	5.86	2.9	0.33743	.	0.000000	0.64402	D	0.000002	D	0.95001	0.8382	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94549	0.7752	10	0.87932	D	0	.	9.6215	0.39723	0.3413:0.0:0.6587:0.0	.	1095;1095	E9PDW4;Q13621	.;S12A1_HUMAN	F	1095	ENSP00000370381:L1095F;ENSP00000379822:L1095F	ENSP00000370381:L1095F	L	+	3	2	SLC12A1	46382359	0.955000	0.32602	1.000000	0.80357	0.981000	0.71138	0.057000	0.14279	0.909000	0.36697	0.650000	0.86243	TTG	SLC12A1	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.328	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0	48	0	G			48595067	1	tier1	-	no_errors	ENST00000380993	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.995	C	C	48595067	G	C	48595067	3	2	122	1	0	0	0	0	1	0	0	0	14427	1281	45	5	3487	5	SLC12A1	15	48595067	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	13921061	48595067	53936325	95	31896											
PDE8A	5151	genome.wustl.edu	37	chr15	85652346	85652346	+	Frame_Shift_Del	DEL	T	T	-																															tagacgtcaaagctgttgccTcccgtgcaactgaaggtgag																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr15:85652346delT	ENST00000310298.4	+	13	1351	c.1099delT	c.(1099-1101)tccfs	p.S367fs	PDE8A_ENST00000557957.1_Frame_Shift_Del_p.S295fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.S367fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.S321fs|PDE8A_ENST00000557819.2_3'UTR			O60658	PDE8A_HUMAN	phosphodiesterase 8A	367					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)	AGCTGTTGCCTCCCGTGCAAC	0.438																																																	0													100	94	96					15																	85652346		2203	4299	6502	SO:0001589	frameshift_variant	0			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.1099delT	15.37:g.85652346delT	ENSP00000311453:p.Ser367fs		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Frame_Shift_Del	DEL	pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.S367fs	ENST00000310298.4	37	c.1099	CCDS10336.1	15																																																																																			PDE8A	-	NULL	ENSG00000073417		0.438	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8A	HGNC	protein_coding	OTTHUMT00000309018.1		0	39	0	T	NM_002605		85652346	1	tier1		no_errors	ENST00000310298	ensembl	human	known	74_37	frame_shift_del	18.18	9	2	DEL	0.510	-	-	85652346	T	-	85652346	7	5	122	1	0	1	0	1	0	0	0	0	11692	1551	54	0	1145	0	PDE8A	15	85652346	Frame_Shift_Del	DEL	T	TCGA-LN-A5U6-01A-11D-A28B-09	37057279	85652346	16879046	96	31897											
IRX5	10265	genome.wustl.edu	37	chr16	54967577	54967577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatcccggctacacgaactAtggctccttcggacaccttc	8	10	7	16	3	0	0	0	0	0	0	4	2	2	1	3	3	2	2	3	3	4	5			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr16:54967577A>G	ENST00000394636.4	+	3	1581	c.1244A>G	c.(1243-1245)tAt>tGt	p.Y415C	IRX5_ENST00000558597.1_Missense_Mutation_p.Y349C|IRX5_ENST00000560154.1_Missense_Mutation_p.Y195C|IRX5_ENST00000320990.5_Missense_Mutation_p.Y414C|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	415					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						TACACGAACTATGGCTCCTTC	0.637																																																	0													25	32	29					16																	54967577		2192	4290	6482	SO:0001583	missense	0			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1244A>G	16.37:g.54967577A>G	ENSP00000378132:p.Tyr415Cys		H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.Y415C	ENST00000394636.4	37	c.1244	CCDS10751.1	16	.	.	.	.	.	.	.	.	.	.	A	14.91	2.676593	0.47886	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.50813	0.73;0.73	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.63165	0.2488	L	0.54323	1.7	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.67098	-0.5756	10	0.87932	D	0	-4.6453	14.0367	0.64649	1.0:0.0:0.0:0.0	.	415	P78411	IRX5_HUMAN	C	415;414	ENSP00000378132:Y415C;ENSP00000316250:Y414C	ENSP00000316250:Y414C	Y	+	2	0	IRX5	53525078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.621000	0.90949	1.896000	0.54893	0.528000	0.53228	TAT	IRX5	-	NULL	ENSG00000176842		0.637	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IRX5	HGNC	protein_coding	OTTHUMT00000256911.2	-	0	92	0	A			54967577	1	tier1	-	no_errors	ENST00000394636	ensembl	human	known	74_37	missense	9.86	64	7	SNP	1.000	G	G	54967577	A	G	54967577	3	3	122	1	0	0	0	0	1	0	0	0	7874	449	16	4	1254	4	IRX5	16	54967577	Missense_Mutation	SNP	A	TCGA-LN-A5U6-01A-11D-A28B-09		54967577	35387176	97	31898											
CYB5B	80777	genome.wustl.edu	37	chr16	69458712	69458713	+	Nonsense_Mutation	DNP	GC	GC	AT																															aactccttgaaggaactgtgGcttgtgatccatgggcgagt																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr16:69458712_69458713GC>AT	ENST00000512062.1	+	1	285_286	c.114_115GC>AT	c.(112-117)tgGCtt>tgATtt	p.38_39WL>*F	CYB5B_ENST00000307892.8_Nonsense_Mutation_p.42_43WL>*F|CYB5B_ENST00000515314.1_Nonsense_Mutation_p.38_39WL>*F|CYB5B_ENST00000561792.1_Nonsense_Mutation_p.38_39WL>*F			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	38	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				AGGAACTGTGGCTTGTGATCCA	0.594																																																	0																																										SO:0001587	stop_gained	0				CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	Exception_encountered	16.37:g.69458712_69458713delinsAT	ENSP00000423679:p.W38_L39delins*F		A8K6B1|Q96CC3|Q9BT35	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Aquaporin-like,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd	p.W42*|p.L43F	ENST00000512062.1	37	c.126|c.127		16																																																																																			CYB5B	-	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd	ENSG00000103018		0.594	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	CYB5B	HGNC	protein_coding	OTTHUMT00000256606.2	-	0	64	0	G|C	NM_030579		69458712|69458713	1	tier1	-	no_errors	ENST00000307892	ensembl	human	known	74_37	nonsense|missense	58.59|56.57	41|43	58|56	SNP	1.000	A|T	AT	69458713	GC	AT	69458712	4	1	122	1	0	0	0	0	0	1	0	0	4132	1212	42	3	128	3	CYB5B	16	69458712	Nonsense_Mutation	DNP	GC	TCGA-LN-A5U6-01A-11D-A28B-09	14491135	69458712	20896041	98	31899											
LRRC50	123872	genome.wustl.edu	37	chr16	84203815	84203815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttaaaggagaggatggaGatcaagagccagaggggacc	15	4	17	5	0	1	4	1	0	0	4	1	8	1	6	2	6	1	1	2	6	3	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr16:84203815G>A	ENST00000378553.5	+	8	1505	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	461	Pro-rich.				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						AGAGGATGGAGATCAAGAGCC	0.612																																																	0													53	53	53					16																	84203815		2199	4300	6499	SO:0001583	missense	0			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.1381G>A	16.37:g.84203815G>A	ENSP00000367815:p.Asp461Asn		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	NULL	p.D461N	ENST00000378553.5	37	c.1381	CCDS10943.2	16	.	.	.	.	.	.	.	.	.	.	G	0.587	-0.834583	0.02713	.	.	ENSG00000154099	ENST00000378553	T	0.28255	1.62	0.622	0.622	0.17648	.	.	.	.	.	T	0.18087	0.0434	L	0.33485	1.01	0.19575	N	0.999965	B;B	0.28552	0.114;0.215	B;B	0.20184	0.016;0.028	T	0.23368	-1.0190	8	0.17369	T	0.5	.	.	.	.	.	225;461	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	N	461	ENSP00000367815:D461N	ENSP00000367815:D461N	D	+	1	0	DNAAF1	82761316	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.121000	0.15667	0.592000	0.29728	0.462000	0.41574	GAT	DNAAF1	-	NULL	ENSG00000154099		0.612	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	HGNC	protein_coding	OTTHUMT00000250328.3	-	0	116	0	G	NM_178452		84203815	1	tier1	-	no_errors	ENST00000378553	ensembl	human	known	74_37	missense	29.75	111	47	SNP	0.003	A	A	84203815	G	A	84203815	3	1	122	1	0	0	0	0	1	0	0	0	9044	942	33	3	1411	3	LRRC50	16	84203815	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	14745103	84203815	6150938	99	31900											
TP53	7157	genome.wustl.edu	37	chr17	7579497	7579498	+	Frame_Shift_Del	DEL	GA	GA	-																															agcagcctctggcattctggGagcttcatctggacctgggt																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr17:7579497_7579498delGA	ENST00000269305.4	-	4	378_379	c.189_190delTC	c.(187-192)gctcccfs	p.P64fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P64fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P64fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P64fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P64fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.P64fs	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	64	Interaction with HRMT1L2.				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.G59fs*23(3)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCATTCTGGGAGCTTCATCTG	0.604		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"	16	Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(1)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)																																								SO:0001589	frameshift_variant	0	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.189_190delTC	17.37:g.7579497_7579498delGA	ENSP00000269305:p.Pro64fs		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P64fs	ENST00000269305.4	37	c.190_189	CCDS11118.1	17																																																																																			TP53	-	NULL	ENSG00000141510		0.604	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	50	0	GA	NM_000546		7579498	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	62.26	20	33	DEL	0.000:0.000	-	-	7579498	GA	-	7579497	7	5	122	1	0	1	0	1	0	0	0	0	16429	1174	41	0	1112	0	TP53	17	7579497	Frame_Shift_Del	DEL	GA	TCGA-LN-A5U6-01A-11D-A28B-09		7579497	73615713	100	31901											
KCNJ12	3768	genome.wustl.edu	37	chr17	21319388	21319388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagggcgagtacatccCgctggaccagatcgacatcg	10	5	14	12	5	0	1	0	0	0	1	3	6	1	3	2	3	1	2	2	3	1	1	rs140875968	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr17:21319388C>T	ENST00000583088.1	+	3	1629	c.734C>T	c.(733-735)cCg>cTg	p.P245L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.P245L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	245					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)	GAGTACATCCCGCTGGACCAG	0.612										Prostate(3;0.18)																																							0								C	LEU/PRO	0,4406		0,0,2203	122	89	100		734	5.3	1	17	dbSNP_134	100	7,8593	2.2+/-6.3	0,7,4293	yes	missense	KCNJ12	NM_021012.4	98	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	245/434	21319388	7,12999	2203	4300	6503	SO:0001583	missense	0			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.734C>T	17.37:g.21319388C>T	ENSP00000463778:p.Pro245Leu		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.P245L	ENST00000583088.1	37	c.734	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720594	0.89205	0.0	8.14E-4	ENSG00000184185	ENST00000331718	D	0.91521	-2.86	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.95620	0.8576	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95974	0.8972	10	0.87932	D	0	.	18.9979	0.92821	0.0:1.0:0.0:0.0	.	245	Q14500	IRK12_HUMAN	L	245	ENSP00000328150:P245L	ENSP00000328150:P245L	P	+	2	0	KCNJ12	21259981	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.680000	0.84062	2.496000	0.84212	0.655000	0.94253	CCG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2		0	119	0	C	NM_021012		21319388	1			no_errors	ENST00000331718	ensembl	human	known	74_37	missense	5.00	133	7	SNP	1.000	T	T	21319388	C	T	21319388	3	4	122	1	0	0	0	0	1	0	0	0	8073	652	23	1	736	1	KCNJ12	17	21319388	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	13739891	21319388	59875822	101	31902											
CPD	1362	genome.wustl.edu	37	chr17	28758892	28758893	+	Frame_Shift_Ins	INS	-	-	T																															caacaaatagcactttcttaINSttccaaggtaggcttgtctt																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr17:28758892_28758893insT	ENST00000225719.4	+	8	2196_2197	c.2120_2121insT	c.(2119-2124)tattccfs	p.S708fs	CPD_ENST00000543464.2_Frame_Shift_Ins_p.S461fs	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	708	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCACTTTCTTATTCCAAGGTAG	0.342																																																	0																																										SO:0001589	frameshift_variant	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2122dupT	17.37:g.28758894_28758894dupT	ENSP00000225719:p.Ser708fs		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Frame_Shift_Ins	INS	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.S708fs	ENST00000225719.4	37	c.2120_2121	CCDS11257.1	17																																																																																			CPD	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000108582		0.342	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3		0	64	0	-	NM_001304		28758893	1	tier1		no_errors	ENST00000225719	ensembl	human	known	74_37	frame_shift_ins	28.26	33	13	INS	1.000:1.000	T	T	28758893	-	T	28758892	7	5	122	1	0	1	1	0	0	0	0	0	3805	449	16	0	2150	0	CPD	17	28758892	Frame_Shift_Ins	INS	-	TCGA-LN-A5U6-01A-11D-A28B-09	7439504	28758892	52436318	102	31903											
EFCAB3	146779	genome.wustl.edu	37	chr17	60484452	60484452	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctttccattgttccctaatgTggatggggtggtgatgggaa	7	14	14	6	0	0	1	0	1	0	0	2	3	2	3	2	5	0	1	2	5	2	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr17:60484452T>C	ENST00000305286.3	+	8	824	c.746T>C	c.(745-747)gTg>gCg	p.V249A	EFCAB3_ENST00000450662.2_Missense_Mutation_p.V301A	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	249							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TTCCCTAATGTGGATGGGGTG	0.358																																																	0													115	113	114					17																	60484452		2203	4300	6503	SO:0001583	missense	0			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.746T>C	17.37:g.60484452T>C	ENSP00000302649:p.Val249Ala		J3KQM8	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.V301A	ENST00000305286.3	37	c.902	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	T	9.764	1.170758	0.21621	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.58797	0.31;0.34	5.79	4.65	0.58169	.	0.538223	0.17011	N	0.190509	T	0.48874	0.1524	L	0.56769	1.78	0.31751	N	0.63453	B	0.32918	0.39	B	0.27380	0.079	T	0.57997	-0.7714	10	0.38643	T	0.18	.	8.5047	0.33179	0.1723:0.0:0.0:0.8277	.	249	Q8N7B9	EFCB3_HUMAN	A	301;249	ENSP00000403932:V301A;ENSP00000302649:V249A	ENSP00000302649:V249A	V	+	2	0	EFCAB3	57838184	0.996000	0.38824	0.996000	0.52242	0.071000	0.16799	1.899000	0.39818	2.216000	0.71823	0.377000	0.23210	GTG	EFCAB3	-	NULL	ENSG00000172421		0.358	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	HGNC	protein_coding	OTTHUMT00000379114.1	-	0	45	0	T	NM_173503		60484452	1	tier1	-	no_errors	ENST00000450662	ensembl	human	known	74_37	missense	38.33	37	23	SNP	0.987	C	C	60484452	T	C	60484452	3	2	122	1	0	0	0	0	1	0	0	0	4949	1696	59	4	940	4	EFCAB3	17	60484452	Missense_Mutation	SNP	T	TCGA-LN-A5U6-01A-11D-A28B-09	31725560	60484452	20710758	103	31904											
KHSRP	8570	genome.wustl.edu	37	chr19	6417019	6417019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggctctggaggaggtcGttgatgatccgggctgcgtg	5	10	18	8	3	1	3	0	3	1	0	3	5	2	5	1	5	1	3	1	5	0	1			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:6417019G>A	ENST00000398148.3	-	12	1253	c.1161C>T	c.(1159-1161)aaC>aaT	p.N387N	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	387	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGAGGAGGTCGTTGATGATCC	0.642																																					Colon(55;593 1006 2067 9135 22980)												0													55	63	60					19																	6417019		1961	4142	6103	SO:0001819	synonymous_variant	0			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1161C>T	19.37:g.6417019G>A			O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.N387	ENST00000398148.3	37	c.1161	CCDS45936.1	19																																																																																			KHSRP	-	smart_KH_dom	ENSG00000088247		0.642	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHSRP	HGNC	protein_coding	OTTHUMT00000453305.1		0	65	0	G			6417019	-1			no_errors	ENST00000398148	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.076	A	A	6417019	G	A	6417019	2	1	122	1	0	0	0	0	0	0	0	1	8178	1136	40	1		1	KHSRP	19	6417019	Silent	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09		6417019	52711964	104	31905											
DPY19L3	147991	genome.wustl.edu	37	chr19	32927459	32927459	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcagtattttatatagaGttctacccatacaggtatgt	11	17	6	7	0	2	1	1	0	2	1	3	1	2	1	1	1	2	3	1	1	7	10			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:32927459G>C	ENST00000342179.5	+	5	651	c.436G>C	c.(436-438)Gtt>Ctt	p.V146L	DPY19L3_ENST00000392250.2_Missense_Mutation_p.V146L|DPY19L3_ENST00000586987.1_Missense_Mutation_p.V146L	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	146						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTTATATAGAGTTCTACCCAT	0.303																																																	0													67	78	74					19																	32927459		2198	4273	6471	SO:0001583	missense	0				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.436G>C	19.37:g.32927459G>C	ENSP00000344937:p.Val146Leu		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	pfam_Dpy-19	p.V146L	ENST00000342179.5	37	c.436	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	G	9.871	1.199078	0.22121	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.56611	0.45;0.45	5.87	4.84	0.62591	.	0.463988	0.23758	N	0.044851	T	0.35158	0.0922	N	0.26042	0.785	0.28365	N	0.920265	B	0.02656	0.0	B	0.04013	0.001	T	0.16958	-1.0385	10	0.28530	T	0.3	-8.8252	6.5515	0.22436	0.1568:0.0:0.6962:0.147	.	146	Q6ZPD9	D19L3_HUMAN	L	146	ENSP00000376081:V146L;ENSP00000344937:V146L	ENSP00000315672:V146L	V	+	1	0	DPY19L3	37619299	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.993000	0.29680	1.492000	0.48499	0.655000	0.94253	GTT	DPY19L3	-	pfam_Dpy-19	ENSG00000178904		0.303	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	HGNC	protein_coding	OTTHUMT00000450311.1	-	0	78	0	G	NM_207325		32927459	1	tier1	-	no_errors	ENST00000342179	ensembl	human	known	74_37	missense	28.12	46	18	SNP	1.000	C	C	32927459	G	C	32927459	3	2	122	1	0	0	0	0	1	0	0	0	4756	1029	36	5	450	5	DPY19L3	19	32927459	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	26510440	32927459	26201524	105	31906											
ZNF571	51276	genome.wustl.edu	37	chr19	38056953	38056953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattatccgatgaaaagtaGaagaggttgaatgactttca	16	11	10	4	1	1	5	1	3	0	2	2	7	2	5	1	1	0	2	1	1	7	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:38056953G>A	ENST00000328550.2	-	4	476	c.377C>T	c.(376-378)tCt>tTt	p.S126F	ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.S126F|ZNF571-AS1_ENST00000587121.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.S126F|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.S126F			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)			ATGAAAAGTAGAAGAGGTTGA	0.398																																																	0													117	113	115					19																	38056953		2203	4300	6503	SO:0001583	missense	0			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.377C>T	19.37:g.38056953G>A	ENSP00000333660:p.Ser126Phe		Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S126F	ENST00000328550.2	37	c.377	CCDS12505.1	19	.	.	.	.	.	.	.	.	.	.	G	2.033	-0.421941	0.04734	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.08458	3.09;3.09;3.09	3.5	-6.99	0.01605	.	.	.	.	.	T	0.01730	0.0055	N	0.00483	-1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47328	-0.9126	9	0.27082	T	0.32	.	4.9819	0.14170	0.6325:0.113:0.1404:0.1141	.	126	Q7Z3V5	ZN571_HUMAN	F	126	ENSP00000333660:S126F;ENSP00000392638:S126F;ENSP00000351594:S126F	ENSP00000333660:S126F	S	-	2	0	ZNF571	42748793	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-0.147000	0.10234	-1.278000	0.02408	0.313000	0.20887	TCT	ZNF571	-	NULL	ENSG00000180479		0.398	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF571	HGNC	protein_coding	OTTHUMT00000458669.1	-	0	62	0	G	NM_016536		38056953	-1	tier1	-	no_errors	ENST00000328550	ensembl	human	known	74_37	missense	68.00	24	51	SNP	0.000	A	A	38056953	G	A	38056953	3	1	122	1	0	0	0	0	1	0	0	0	18051	942	33	3	1456	3	ZNF571	19	38056953	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	5129494	38056953	21072030	106	31907											
PRRG2	5639	genome.wustl.edu	37	chr19	50093637	50093637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcttgcagcctcaggagGcctcactgaagagctgcttt	7	11	10	13	0	3	2	2	1	1	1	4	3	4	3	3	2	4	3	3	2	1	2			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:50093637G>A	ENST00000246794.5	+	7	769	c.600G>A	c.(598-600)agG>agA	p.R200R	PRRG2_ENST00000596700.1_3'UTR|PRR12_ENST00000418929.2_5'Flank	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	200						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GCCTCAGGAGGCCTCACTGAA	0.597																																																	0													156	150	152					19																	50093637		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.600G>A	19.37:g.50093637G>A			Q6IBF8	Silent	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.R200	ENST00000246794.5	37	c.600	CCDS12773.1	19																																																																																			PRRG2	-	NULL	ENSG00000126460		0.597	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG2	HGNC	protein_coding	OTTHUMT00000465257.1	-	0	70	0	G	NM_000951		50093637	1	tier1	-	no_errors	ENST00000246794	ensembl	human	known	74_37	silent	46.88	34	30	SNP	0.282	A	A	50093637	G	A	50093637	2	1	122	1	0	0	0	0	0	0	0	1	12648	1194	42	3		3	PRRG2	19	50093637	Silent	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	12036684	50093637	9035346	107	31908											
HSPBP1	23640	genome.wustl.edu	37	chr19	55790905	55790905	+	Silent	SNP	T	T	G	0	1	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	gagccgccgccgccgcccccTgaagagcaaccctgggaggc	7	2	14	18	4	0	2	0	1	0	1	0	4	0	3	7	2	3	1	7	2	2	0			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:55790905T>G	ENST00000255631.5	-	3	382	c.72A>C	c.(70-72)tcA>tcC	p.S24S	BRSK1_ENST00000590333.1_5'Flank|HSPBP1_ENST00000376343.3_Silent_p.S24S|HSPBP1_ENST00000433386.2_Silent_p.S24S|HSPBP1_ENST00000587922.1_Silent_p.S24S	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	24	Gly-rich.				negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CGCCGCCCCCTGAAGAGCAAC	0.697																																																	0													7	10	9					19																	55790905		1698	3669	5367	SO:0001819	synonymous_variant	0				CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"hsp70 interacting protein", "Hsp70 binding protein 1"	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.72A>C	19.37:g.55790905T>G			B3KQP0|B4DG11|O95351|Q6ZNU5	Silent	SNP	superfamily_ARM-type_fold	p.S24	ENST00000255631.5	37	c.72	CCDS33111.1	19																																																																																			HSPBP1	-	NULL	ENSG00000133265		0.697	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HSPBP1	HGNC	protein_coding	OTTHUMT00000452670.1		0	40	0	T	NM_012267		55790905	-1			no_errors	ENST00000255631	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.075	G	G	55790905	T	G	55790905	2	3	122	1	0	0	0	0	0	0	0	1	7453	1567	55	4		4	HSPBP1	19	55790905	Silent	SNP	T	TCGA-LN-A5U6-01A-11D-A28B-09	5697268	55790905	3338078	108	31909											
ZNF579	163033	genome.wustl.edu	37	chr19	56090160	56090160	+	Frame_Shift_Del	DEL	G	G	-																															cggtggcgcgacagggaccaGggcctggcgaaggccttgag																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:56090160delG	ENST00000325421.4	-	2	874	c.846delC	c.(844-846)cccfs	p.P282fs	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		ACAGGGACCAGGGCCTGGCGA	0.721																																																	0													29	32	31					19																	56090160		2203	4298	6501	SO:0001589	frameshift_variant	0			AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"Zinc fingers, C2H2-type"	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.846delC	19.37:g.56090160delG	ENSP00000320188:p.Pro282fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W283fs	ENST00000325421.4	37	c.846	CCDS12927.1	19																																																																																			ZNF579	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000218891		0.721	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF579	HGNC	protein_coding	OTTHUMT00000453348.1		0	13	0	G	NM_152600		56090160	-1	tier1		no_errors	ENST00000325421	ensembl	human	known	74_37	frame_shift_del	35.29	11	6	DEL	0.990	-	-	56090160	G	-	56090160	7	5	122	1	0	1	0	1	0	0	0	0	18059	987	35	0	846	0	ZNF579	19	56090160	Frame_Shift_Del	DEL	G	TCGA-LN-A5U6-01A-11D-A28B-09	299255	56090160	3038823	109	31910	117	2									
ZNF579	163033	genome.wustl.edu	37	chr19	56090162	56090163	+	Missense_Mutation	DNP	GC	GC	AA																															gtggcgcgacagggaccaggGcctggcgaaggccttgaggc																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr19:56090162_56090163GC>AA	ENST00000325421.4	-	2	871_872	c.843_844GC>TT	c.(841-846)agGCcc>agTTcc	p.281_282RP>SS	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		AGGGACCAGGGCCTGGCGAAGG	0.718																																																	0																																										SO:0001583	missense	0			AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"Zinc fingers, C2H2-type"	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.843_844delinsAA	19.37:g.56090162_56090163delinsAA	ENSP00000320188:p.R281_P282delinsSS			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P282S|p.R281S	ENST00000325421.4	37	c.844|c.843	CCDS12927.1	19																																																																																			ZNF579	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000218891		0.718	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF579	HGNC	protein_coding	OTTHUMT00000453348.1		0	12|13	0	G|C	NM_152600		56090162|56090163	-1			no_errors	ENST00000325421	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.996|0.993	A	AA	56090163	GC	AA	56090162	3	1	122	1	0	0	0	0	1	0	0	0	18059	1203	42	3	848	3	ZNF579	19	56090162	Missense_Mutation	DNP	GC	TCGA-LN-A5U6-01A-11D-A28B-09	2	56090162	3038821	110	31911	117	2									
ITCH	83737	genome.wustl.edu	37	chr20	33050008	33050008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccacctatatagatccccGcacaggaaaatctgccctgt	12	9	6	14	1	1	1	0	0	1	1	2	2	2	2	5	1	2	1	5	1	6	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr20:33050008G>A	ENST00000262650.6	+	15	1665	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	ITCH_ENST00000374864.4_Missense_Mutation_p.R469H|ITCH_ENST00000535650.1_Missense_Mutation_p.R359H|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	510	WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|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)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATAGATCCCCGCACAGGAAAA	0.368																																																	0													80	79	79					20																	33050008		2203	4300	6503	SO:0001583	missense	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1529G>A	20.37:g.33050008G>A	ENSP00000262650:p.Arg510His		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.R510H	ENST00000262650.6	37	c.1529	CCDS58768.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.320223	0.95682	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.52057	0.68;0.74;1.02	5.85	5.85	0.93711	WW/Rsp5/WWP (4);	0.051357	0.85682	D	0.000000	T	0.81791	0.4897	H	0.97940	4.11	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.955;0.995;0.972	D	0.88004	0.2758	10	0.87932	D	0	.	19.762	0.96323	0.0:0.0:1.0:0.0	.	421;510;469	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	H	469;359;510	ENSP00000363998:R469H;ENSP00000445608:R359H;ENSP00000262650:R510H	ENSP00000262650:R510H	R	+	2	0	ITCH	32513669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.770000	0.95276	0.650000	0.86243	CGC	ITCH	-	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	ENSG00000078747		0.368	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	-	0	50	0	G			33050008	1	tier1	-	no_errors	ENST00000262650	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	A	A	33050008	G	A	33050008	3	1	122	1	0	0	0	0	1	0	0	0	7895	1087	38	1	1452	1	ITCH	20	33050008	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09		33050008	29975512	111	31912											
ERG	2078	genome.wustl.edu	37	chr21	39755332	39755332	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccgccaggtctttagtagTaagtgcccagatgagaaggc	10	9	12	10	1	1	2	0	1	1	2	2	3	2	2	3	2	1	2	3	2	4	4			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr21:39755332T>C	ENST00000417133.2	-	12	1639	c.1454A>G	c.(1453-1455)tAc>tGc	p.Y485C	ERG_ENST00000398911.1_Missense_Mutation_p.Y461C|ERG_ENST00000398897.1_Missense_Mutation_p.Y362C|ERG_ENST00000398919.2_Missense_Mutation_p.Y485C|ERG_ENST00000398907.1_Missense_Mutation_p.Y455C|ERG_ENST00000442448.1_Missense_Mutation_p.Y461C|ERG_ENST00000398910.1_Missense_Mutation_p.Y462C|ERG_ENST00000453032.2_Missense_Mutation_p.Y386C|ERG_ENST00000288319.7_Missense_Mutation_p.Y478C|ERG_ENST00000398905.1_Missense_Mutation_p.Y454C	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)	TCTTTAGTAGTAAGTGCCCAG	0.507			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													27	27	27					21																	39755332		2203	4300	6503	SO:0001583	missense	0				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.1454A>G	21.37:g.39755332T>C	ENSP00000414150:p.Tyr485Cys		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.Y485C	ENST00000417133.2	37	c.1454	CCDS46648.1	21	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201345	0.58234	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.28069	1.77;1.67;1.71;1.89;1.76;1.71;1.63;1.76;1.76;1.71	5.76	5.76	0.90799	.	0.171976	0.40222	N	0.001154	T	0.55000	0.1893	M	0.66297	2.02	0.80722	D	1	P;B;D;D	0.89917	0.848;0.232;0.964;1.0	B;B;P;D	0.91635	0.275;0.202;0.465;0.999	T	0.56323	-0.7998	10	0.56958	D	0.05	.	16.0706	0.80928	0.0:0.0:0.0:1.0	.	485;454;461;478	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	C	454;455;478;362;461;485;462;461;386;485	ENSP00000381877:Y454C;ENSP00000381879:Y455C;ENSP00000288319:Y478C;ENSP00000381871:Y362C;ENSP00000381882:Y461C;ENSP00000414150:Y485C;ENSP00000381881:Y462C;ENSP00000394694:Y461C;ENSP00000396268:Y386C;ENSP00000381891:Y485C	ENSP00000288319:Y478C	Y	-	2	0	ERG	38677202	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.036000	0.88901	2.177000	0.69029	0.460000	0.39030	TAC	ERG	-	NULL	ENSG00000157554		0.507	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2	-	0	134	0	T	NM_182918		39755332	-1	tier1	-	no_errors	ENST00000398919	ensembl	human	known	74_37	missense	9.27	137	14	SNP	1.000	C	C	39755332	T	C	39755332	3	2	122	1	0	0	0	0	1	0	0	0	5238	1638	57	4	10	4	ERG	21	39755332	Missense_Mutation	SNP	T	TCGA-LN-A5U6-01A-11D-A28B-09		39755332	8374563	112	31913											
COL6A2	1292	genome.wustl.edu	37	chr21	47552161	47552161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccttctcgcacgtgggcGcaggcgtggtgcacgccatc	5	8	13	15	5	1	0	0	0	1	0	4	0	2	0	2	3	1	3	2	3	0	1	rs372523558		TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr21:47552161G>A	ENST00000300527.4	+	28	2859	c.2755G>A	c.(2755-2757)Gca>Aca	p.A919T		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	919	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCACGTGGGCGCAGGCGTGGT	0.677													G|||	1	0.000199681	0	0	5008	,	,		16227	0.001		0	False		,,,				2504	0																0								G	THR/ALA	1,4391		0,1,2195	23	24	23		2755	-4	0	21		23	1,8597		0,1,4298	no	missense	COL6A2	NM_001849.3	58	0,2,6493	AA,AG,GG		0.0116,0.0228,0.0154	benign	919/1020	47552161	2,12988	2196	4299	6495	SO:0001583	missense	0			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.2755G>A	21.37:g.47552161G>A	ENSP00000300527:p.Ala919Thr		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A919T	ENST00000300527.4	37	c.2755	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	4.734	0.136524	0.09032	2.28E-4	1.16E-4	ENSG00000142173	ENST00000300527	D	0.83914	-1.78	4.18	-3.99	0.04069	von Willebrand factor, type A (3);	1.572510	0.03859	N	0.273673	T	0.52191	0.1719	N	0.01219	-0.95	0.09310	N	0.999997	B	0.09022	0.002	B	0.10450	0.005	T	0.49341	-0.8950	10	0.12103	T	0.63	-0.451	2.2905	0.04137	0.5037:0.097:0.1158:0.2835	.	919	P12110	CO6A2_HUMAN	T	919	ENSP00000300527:A919T	ENSP00000300527:A919T	A	+	1	0	COL6A2	46376589	0.000000	0.05858	0.011000	0.14972	0.168000	0.22595	-0.265000	0.08644	-0.906000	0.03866	0.313000	0.20887	GCA	COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142173		0.677	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0	85	0	G			47552161	1	tier1	-	no_errors	ENST00000300527	ensembl	human	known	74_37	missense	73.24	19	52	SNP	0.013	A	A	47552161	G	A	47552161	3	1	122	1	0	0	0	0	1	0	0	0	3707	1087	38	1	3191	1	COL6A2	21	47552161	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	7796829	47552161	577734	113	31914											
MMP11	4320	genome.wustl.edu	37	chr22	24124522	24124522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttggtctggggtccCgagaagaacaagatctactt	9	10	12	10	1	2	3	0	0	2	3	3	4	3	3	2	3	3	1	2	3	4	3			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr22:24124522C>T	ENST00000215743.3	+	7	1237	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	AP000349.1_ENST00000598975.1_Missense_Mutation_p.R231Q	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	395					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)	TCTGGGGTCCCGAGAAGAACA	0.642																																																	0													72	65	68					22																	24124522		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1185C>T	22.37:g.24124522C>T			Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	NULL	p.R231Q	ENST00000215743.3	37	c.692	CCDS13816.1	22																																																																																			AP000349.1	-	NULL	ENSG00000267954		0.642	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267954	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000319891.2	-	0	86	0	C	NM_005940		24124522	-1	tier1	-	no_errors	ENST00000598975	ensembl	human	known	74_37	missense	28.57	95	38	SNP	0.000	T	T	24124522	C	T	24124522	2	4	122	1	0	0	0	0	0	0	0	1	9688	639	23	1		1	MMP11	22	24124522	Silent	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09		24124522	27180044	114	31915											
CACNG2	10369	genome.wustl.edu	37	chr22	36960889	36960889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gctcttggaggggtctccggCattggcagatatgtacacta	8	11	13	9	1	2	1	0	0	2	1	3	2	2	2	1	5	1	4	1	5	3	5			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr22:36960889C>A	ENST00000300105.6	-	4	1462	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	161					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						GGGTCTCCGGCATTGGCAGAT	0.547																																																	0													105	119	114					22																	36960889		2203	4300	6503	SO:0001583	missense	0			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.481G>T	22.37:g.36960889C>A	ENSP00000300105:p.Ala161Ser		Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g2su,prints_Claudin	p.A161S	ENST00000300105.6	37	c.481	CCDS13931.1	22	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153167	0.38021	.	.	ENSG00000166862	ENST00000300105	D	0.89552	-2.53	5.54	5.54	0.83059	.	0.054044	0.64402	D	0.000001	D	0.87489	0.6190	L	0.51914	1.62	0.80722	D	1	B	0.16802	0.019	B	0.18561	0.022	T	0.82894	-0.0231	10	0.48119	T	0.1	-15.8677	19.4694	0.94956	0.0:1.0:0.0:0.0	.	161	Q9Y698	CCG2_HUMAN	S	161	ENSP00000300105:A161S	ENSP00000300105:A161S	A	-	1	0	CACNG2	35290835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.684000	0.68197	2.612000	0.88384	0.563000	0.77884	GCC	CACNG2	-	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	ENSG00000166862		0.547	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG2	HGNC	protein_coding	OTTHUMT00000075500.2	-	0	31	0	C			36960889	-1	tier1	-	no_errors	ENST00000300105	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.998	A	A	36960889	C	A	36960889	3	1	122	1	0	0	0	0	1	0	0	0	2564	710	25	3	494	3	CACNG2	22	36960889	Missense_Mutation	SNP	C	TCGA-LN-A5U6-01A-11D-A28B-09	12836367	36960889	14343677	115	31916											
PLXNB2	23654	genome.wustl.edu	37	chr22	50715316	50715316	+	Frame_Shift_Del	DEL	A	A	-																															agatctccttggcgtacagcAgcttgttgctgggagaatcc																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chr22:50715316delA	ENST00000449103.1	-	34	5356	c.5216delT	c.(5215-5217)ctgfs	p.L1740fs	PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.L1740fs			O15031	PLXB2_HUMAN	plexin B2	1740					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)		GGCGTACAGCAGCTTGTTGCT	0.627																																																	0													42	43	43					22																	50715316		1937	4139	6076	SO:0001589	frameshift_variant	0				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.5216delT	22.37:g.50715316delA	ENSP00000409171:p.Leu1740fs		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L1739fs	ENST00000449103.1	37	c.5216	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0	43	0	A	NM_012401		50715316	-1	tier1		no_errors	ENST00000359337	ensembl	human	known	74_37	frame_shift_del	35.05	63	34	DEL	1.000	-	-	50715316	A	-	50715316	7	5	122	1	0	1	0	1	0	0	0	0	12163	188	7	0	316	0	PLXNB2	22	50715316	Frame_Shift_Del	DEL	A	TCGA-LN-A5U6-01A-11D-A28B-09	13754427	50715316	589250	116	31917											
SH3KBP1	30011	genome.wustl.edu	37	chrX	19568146	19568147	+	Frame_Shift_Ins	INS	-	-	T																															tagcttttggtctgcttgtgINSgtcggatgactgagtttctc																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chrX:19568146_19568147insT	ENST00000397821.3	-	14	1729_1730	c.1439_1440insA	c.(1438-1440)accfs	p.T480fs	SH3KBP1_ENST00000379716.1_Frame_Shift_Ins_p.T242fs|SH3KBP1_ENST00000541422.1_Frame_Shift_Ins_p.T219fs|SH3KBP1_ENST00000379698.4_Frame_Shift_Ins_p.T443fs	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	480					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						GTCTGCTTGTGGTCGGATGACT	0.455																																																	0																																										SO:0001589	frameshift_variant	0			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.1439_1440insA	X.37:g.19568146_19568147insT	ENSP00000380921:p.Thr480fs		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Frame_Shift_Ins	INS	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.T481fs	ENST00000397821.3	37	c.1440_1439	CCDS14193.1	X																																																																																			SH3KBP1	-	NULL	ENSG00000147010		0.455	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1		0	62	0	-	NM_031892		19568147	-1	tier1		no_errors	ENST00000397821	ensembl	human	known	74_37	frame_shift_ins	61.29	24	38	INS	0.995:1.000	T	T	19568147	-	T	19568146	7	5	122	1	0	1	1	0	0	0	0	0	14300	1335	47	0	577	0	SH3KBP1	23	19568146	Frame_Shift_Ins	INS	-	TCGA-LN-A5U6-01A-11D-A28B-09		19568146	135702414	117	31918	118	2									
SH3KBP1	30011	genome.wustl.edu	37	chrX	19568147	19568147	+	Missense_Mutation	SNP	G	G	C																															tagcttttggtctgcttgtgGtcggatgactgagtttctca																										TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chrX:19568147G>C	ENST00000397821.3	-	14	1729	c.1439C>G	c.(1438-1440)aCc>aGc	p.T480S	SH3KBP1_ENST00000379716.1_Missense_Mutation_p.T242S|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.T219S|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.T443S	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	480					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						TCTGCTTGTGGTCGGATGACT	0.453																																																	0													193	164	174					X																	19568147		2203	4300	6503	SO:0001583	missense	0			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.1439C>G	X.37:g.19568147G>C	ENSP00000380921:p.Thr480Ser		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.T480S	ENST00000397821.3	37	c.1439	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208492	0.79240	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	M	0.62723	1.935	0.58432	D	0.999999	P;D;P	0.62365	0.517;0.991;0.953	B;P;B	0.51266	0.133;0.664;0.446	T	0.48990	-0.8985	10	0.72032	D	0.01	-12.2225	18.0381	0.89311	0.0:0.0:1.0:0.0	.	242;480;443	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	S	465;480;242;443;219;460	ENSP00000380921:T480S;ENSP00000369039:T242S;ENSP00000369020:T443S;ENSP00000442499:T219S;ENSP00000369049:T460S	ENSP00000369020:T443S	T	-	2	0	SH3KBP1	19478068	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.126000	0.77201	2.193000	0.70182	0.600000	0.82982	ACC	SH3KBP1	-	NULL	ENSG00000147010		0.453	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	-	0	61	0	G	NM_031892		19568147	-1	tier1	-	no_errors	ENST00000397821	ensembl	human	known	74_37	missense	63.33	19	38	SNP	1.000	C	C	19568147	G	C	19568147	3	2	122	1	0	0	0	0	1	0	0	0	14300	1261	44	5	578	5	SH3KBP1	23	19568147	Missense_Mutation	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	1	19568147	135702413	118	31919	118	2									
LRCH2	57631	genome.wustl.edu	37	chrX	114422839	114422839	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttaatggcttcaggaatGgttttgatgcaattatgata	11	18	9	3	0	1	2	1	2	0	0	1	3	1	3	0	3	1	3	0	3	5	8			TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chrX:114422839G>T	ENST00000317135.8	-	2	474	c.444C>A	c.(442-444)acC>acA	p.T148T	RBMXL3_ENST00000424776.3_5'Flank|LRCH2_ENST00000538422.1_Silent_p.T148T	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	148										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CTTCAGGAATGGTTTTGATGC	0.289																																																	0													39	35	36					X																	114422839		1803	4054	5857	SO:0001819	synonymous_variant	0			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.444C>A	X.37:g.114422839G>T			F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.T148	ENST00000317135.8	37	c.444	CCDS48155.1	X																																																																																			LRCH2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000130224		0.289	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	-	0	66	0	G	NM_020871		114422839	-1	tier1	-	no_errors	ENST00000317135	ensembl	human	known	74_37	silent	70.83	14	34	SNP	0.994	T	T	114422839	G	T	114422839	2	4	122	1	0	0	0	0	0	0	0	1	8968	1335	47	3		3	LRCH2	23	114422839	Silent	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	94854692	114422839	40847721	119	31920											
L1CAM	3897	genome.wustl.edu	37	chrX	153134086	153134086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcagaagtagcgtccGgtgtcattggcctggaggtc	7	8	16	10	2	1	1	1	0	0	1	3	2	2	2	3	5	1	2	3	5	2	2	rs150805225	byFrequency	TCGA-LN-A5U6-01A-11D-A28B-09	TCGA-LN-A5U6-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d4ade9a-d7b2-48d5-95fa-6e2d0936d619	17f782f9-3359-4161-81f1-246e8049bb5b	g.chrX:153134086G>A	ENST00000370060.1	-	13	1665	c.1476C>T	c.(1474-1476)acC>acT	p.T492T	L1CAM_ENST00000370057.3_Silent_p.T492T|L1CAM_ENST00000361699.4_Silent_p.T492T|L1CAM_ENST00000538883.1_Silent_p.T494T|L1CAM_ENST00000543994.1_Silent_p.T494T|L1CAM_ENST00000370055.1_Silent_p.T487T|L1CAM_ENST00000361981.3_Silent_p.T487T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	492	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGCGTCCGGTGTCATTGG	0.557													g|||	1	0.000264901	8e-04	0	3775	,	,		16721	0		0	False		,,,				2504	0																0								G	,,	1,3834		0,0,1,1632,570	139	99	113		1476,1461,1476	-11.2	0	X	dbSNP_134	113	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	L1CAM	NM_000425.3,NM_001143963.1,NM_024003.2	,,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	,,	492/1258,487/1249,492/1254	153134086	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1476C>T	X.37:g.153134086G>A			A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T494	ENST00000370060.1	37	c.1482	CCDS14733.1	X																																																																																			L1CAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000198910		0.557	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	-	0	50	0	G	NM_024003		153134086	-1	tier1	rs150805225	no_errors	ENST00000543994	ensembl	human	known	74_37	silent	70.00	12	28	SNP	0.012	A	A	153134086	G	A	153134086	2	1	122	1	0	0	0	0	0	0	0	1	8616	1103	39	1		1	L1CAM	23	153134086	Silent	SNP	G	TCGA-LN-A5U6-01A-11D-A28B-09	38711247	153134086	2136474	120	31921											
AGRN	375790	genome.wustl.edu	37	chr1	982784	982784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacacgcccgagatggctGaccccaagtcagaactgttc	10	8	9	14	2	2	3	1	1	1	2	3	4	2	3	3	1	2	2	3	1	3	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:982784G>T	ENST00000379370.2	+	20	3516	c.3466G>T	c.(3466-3468)Gac>Tac	p.D1156Y		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1156	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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)		CGAGATGGCTGACCCCAAGTC	0.647																																																	0													54	56	56					1																	982784		2203	4300	6503	SO:0001583	missense	0			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.3466G>T	1.37:g.982784G>T	ENSP00000368678:p.Asp1156Tyr		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom	p.D1156Y	ENST00000379370.2	37	c.3466	CCDS30551.1	1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692565	0.68271	.	.	ENSG00000188157	ENST00000379370	T	0.47528	0.84	4.16	4.16	0.48862	SEA (3);	0.000000	0.64402	D	0.000002	T	0.58864	0.2152	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63519	-0.6619	10	0.62326	D	0.03	-44.9317	17.0319	0.86463	0.0:0.0:1.0:0.0	.	1156	O00468	AGRIN_HUMAN	Y	1156	ENSP00000368678:D1156Y	ENSP00000368678:D1156Y	D	+	1	0	AGRN	972647	1.000000	0.71417	0.989000	0.46669	0.441000	0.31987	7.232000	0.78116	2.336000	0.79503	0.550000	0.68814	GAC	AGRN	-	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	ENSG00000188157		0.647	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2		0	21	0	G	NM_198576		982784	1			no_errors	ENST00000379370	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	T	T	982784	G	T	982784	3	4	123	1	0	0	0	0	1	0	0	0	397	1290	45	3	3544	3	AGRN	1	982784	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09		982784	248267837	1	31922											
HSPG2	3339	genome.wustl.edu	37	chr1	22178378	22178378	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacgtactgtcccgcatcGgcaggtgaggcctggaagat	9	7	14	11	3	0	3	0	1	0	2	2	4	1	4	2	4	1	3	2	4	2	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:22178378G>A	ENST00000374695.3	-	54	6991	c.6912C>T	c.(6910-6912)gcC>gcT	p.A2304A	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2304	Ig-like C2-type 8.				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)	GTCCCGCATCGGCAGGTGAGG	0.657																																																	0																																										SO:0001819	synonymous_variant	0			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.6912C>T	1.37:g.22178378G>A			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.A2304	ENST00000374695.3	37	c.6912	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142798		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1		0	27	0	G	NM_005529		22178378	-1			no_errors	ENST00000374695	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.001	A	A	22178378	G	A	22178378	2	1	123	1	0	0	0	0	0	0	0	1	7457	1103	39	1		1	HSPG2	1	22178378	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	21195594	22178378	227072243	2	31923											
ZSCAN20	7579	genome.wustl.edu	37	chr1	33945122	33945122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctgggctctctgctgtcGttggctgaggccggagatcc	3	11	15	12	2	2	2	0	1	2	1	5	3	3	2	2	4	1	5	2	4	0	1	rs375588396		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:33945122G>A	ENST00000361328.3	+	2	386	c.233G>A	c.(232-234)cGt>cAt	p.R78H	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Missense_Mutation_p.R78H	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	78	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)				CTCTGCTGTCGTTGGCTGAGG	0.617																																																	0								G	HIS/ARG	1,4383		0,1,2191	37	41	39		233	-4.7	0.7	1		39	1,8579		0,1,4289	no	missense	ZSCAN20	NM_145238.3	29	0,2,6480	AA,AG,GG		0.0117,0.0228,0.0154	benign	78/1044	33945122	2,12962	2192	4290	6482	SO:0001583	missense	0			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.233G>A	1.37:g.33945122G>A	ENSP00000355053:p.Arg78His		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R78H	ENST00000361328.3	37	c.233	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488444	0.44249	2.28E-4	1.17E-4	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413	T	0.04502	3.61	5.09	-4.65	0.03339	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.759254	0.11735	N	0.534599	T	0.07007	0.0178	M	0.71871	2.18	0.80722	D	1	B;B;B	0.11235	0.003;0.001;0.004	B;B;B	0.14578	0.005;0.005;0.011	T	0.08743	-1.0707	10	0.45353	T	0.12	-1.3392	12.343	0.55105	0.6025:0.0:0.3975:0.0	.	78;78;78	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	H	78	ENSP00000362512:R78H	ENSP00000324450:R78H	R	+	2	0	ZSCAN20	33717709	0.000000	0.05858	0.672000	0.29872	0.983000	0.72400	-0.404000	0.07205	-1.285000	0.02387	-0.140000	0.14226	CGT	ZSCAN20	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000121903		0.617	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2		0	17	0	G	NM_145238		33945122	1			no_errors	ENST00000361328	ensembl	human	known	74_37	missense	50.00	9	9	SNP	0.935	A	A	33945122	G	A	33945122	3	1	123	1	0	0	0	0	1	0	0	0	18280	1145	40	1	235	1	ZSCAN20	1	33945122	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	11766744	33945122	215305499	3	31924											
LRRC40	55631	genome.wustl.edu	37	chr1	70671212	70671212	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgccccgctatccgcttCaggcgcgacatgttcaaagt	7	10	9	15	4	2	0	2	0	0	0	4	1	4	0	4	1	1	3	4	1	2	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:70671212C>T	ENST00000370952.3	-	1	91	c.12G>A	c.(10-12)ctG>ctA	p.L4L	SRSF11_ENST00000370951.1_5'Flank|SRSF11_ENST00000370950.3_5'Flank|SRSF11_ENST00000454435.2_5'Flank|SRSF11_ENST00000405432.1_5'Flank	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	4						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						CTATCCGCTTCAGGCGCGACA	0.617																																																	0													39	38	39					1																	70671212		2203	4300	6503	SO:0001819	synonymous_variant	0				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.12G>A	1.37:g.70671212C>T			Q9BTR7|Q9NSK1|Q9NXC1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L4	ENST00000370952.3	37	c.12	CCDS646.1	1																																																																																			LRRC40	-	NULL	ENSG00000066557		0.617	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC40	HGNC	protein_coding	OTTHUMT00000025914.1		0	24	0	C	NM_017768		70671212	-1			no_errors	ENST00000370952	ensembl	human	known	74_37	silent	41.18	10	7	SNP	0.002	T	T	70671212	C	T	70671212	2	4	123	1	0	0	0	0	0	0	0	1	9033	813	29	3		3	LRRC40	1	70671212	Silent	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	36726090	70671212	178579409	4	31925											
COL24A1	255631	genome.wustl.edu	37	chr1	86289379	86289379	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaacatactgggggtccttGttgtccagtggcacctctta	9	12	10	10	0	1	0	0	0	1	0	3	0	3	0	3	3	2	2	3	3	4	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:86289379G>C	ENST00000370571.2	-	44	4090	c.3724C>G	c.(3724-3726)Caa>Gaa	p.Q1242E	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q1242E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1242	Collagen-like 13.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGGGGTCCTTGTTGTCCAGTG	0.338																																																	0													132	131	132					1																	86289379		1851	4092	5943	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3724C>G	1.37:g.86289379G>C	ENSP00000359603:p.Gln1242Glu		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.Q1242E	ENST00000370571.2	37	c.3724	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039753	0.55003	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93426	-2.55;-3.22	6.17	6.17	0.99709	.	0.000000	0.40144	N	0.001163	D	0.93874	0.8040	M	0.66939	2.045	0.51482	D	0.999925	D;D	0.60160	0.987;0.97	D;P	0.65140	0.932;0.774	D	0.90891	0.4761	10	0.07175	T	0.84	.	17.7962	0.88572	0.0:0.0:1.0:0.0	.	1242;1242	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	E	1242	ENSP00000359603:Q1242E;ENSP00000392531:Q1242E	ENSP00000359603:Q1242E	Q	-	1	0	COL24A1	86061967	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.175000	0.71949	2.941000	0.99782	0.655000	0.94253	CAA	COL24A1	-	pfam_Collagen	ENSG00000171502		0.338	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4		0	53	0	G	NM_152890		86289379	-1			no_errors	ENST00000370571	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	C	C	86289379	G	C	86289379	3	2	123	1	0	0	0	0	1	0	0	0	3690	1386	48	5	1488	5	COL24A1	1	86289379	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	15618167	86289379	162961242	5	31926											
POGZ	23126	genome.wustl.edu	37	chr1	151400365	151400365	+	Frame_Shift_Del	DEL	C	C	-																															agagctgttgttggacaccaCcactggcccaggactctggc																										TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:151400365delC	ENST00000271715.2	-	7	1326	c.1012delG	c.(1012-1014)gtgfs	p.V339fs	POGZ_ENST00000531094.1_Frame_Shift_Del_p.V277fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.V286fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.V244fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.V330fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.V286fs|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000491586.1_Frame_Shift_Del_p.V286fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	339					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)			TTGGACACCACCACTGGCCCA	0.512																																																	0													74	63	67					1																	151400365		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1012delG	1.37:g.151400365delC	ENSP00000271715:p.Val339fs		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Frame_Shift_Del	DEL	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.V338fs	ENST00000271715.2	37	c.1012	CCDS997.1	1																																																																																			POGZ	-	NULL	ENSG00000143442		0.512	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2		0	40	0	C	NM_207171		151400365	-1			no_errors	ENST00000271715	ensembl	human	known	74_37	frame_shift_del	64.29	10	18	DEL	1.000	0	-	151400365	C	-	151400365	7	5	123	1	0	1	0	1	0	0	0	0	12225	507	18	0	3286	0	POGZ	1	151400365	Frame_Shift_Del	DEL	C	TCGA-LN-A5U7-01A-11D-A31U-09	65110986	151400365	97850256	6	31927											
FLG	2312	genome.wustl.edu	37	chr1	152284593	152284593	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcctgcctgtgagtgtctAgagatgtcggcatgagagga	8	10	16	7	1	1	3	0	2	1	2	2	6	1	4	2	3	1	1	2	3	1	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:152284593A>G	ENST00000368799.1	-	3	2804	c.2769T>C	c.(2767-2769)tcT>tcC	p.S923S	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	923	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)			GTGAGTGTCTAGAGATGTCGG	0.552									Ichthyosis																																								0													345	331	336					1																	152284593		2203	4300	6503	SO:0001819	synonymous_variant	0	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.2769T>C	1.37:g.152284593A>G			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S923	ENST00000368799.1	37	c.2769	CCDS30860.1	1																																																																																			FLG	-	pfam_Filaggrin	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1		0	187	0	A	NM_002016		152284593	-1			no_errors	ENST00000368799	ensembl	human	known	74_37	silent	25.70	157	55	SNP	0.000	G	G	152284593	A	G	152284593	2	3	123	1	0	0	0	0	0	0	0	1	5944	407	15	4		4	FLG	1	152284593	Silent	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	884228	152284593	96966028	7	31928											
SLC27A3	11000	genome.wustl.edu	37	chr1	153749682	153749682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccctgctgggcatcgtggGctgcatgggcattggtcagt	4	12	15	10	1	1	0	1	0	0	0	3	0	2	0	1	4	2	5	1	4	0	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:153749682G>A	ENST00000368661.3	+	3	1228	c.1163G>A	c.(1162-1164)gGc>gAc	p.G388D	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Missense_Mutation_p.G469D	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	388					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)			GGCATCGTGGGCTGCATGGGC	0.532																																																	0													166	133	144					1																	153749682		2203	4300	6503	SO:0001583	missense	0			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.1163G>A	1.37:g.153749682G>A	ENSP00000357650:p.Gly388Asp		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G388D	ENST00000368661.3	37	c.1163	CCDS1053.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.213530|4.213530	0.79352|0.79352	.|.	.|.	ENSG00000143554|ENSG00000143554	ENST00000458027|ENST00000271857;ENST00000368661	.|T;T	.|0.47177	.|0.85;0.85	4.92|4.92	4.92|4.92	0.64577|0.64577	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68366|0.68366	0.2993|0.2993	M|M	0.90650|0.90650	3.135|3.135	0.54753|0.54753	D|D	0.999989|0.999989	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.74719|0.74719	-0.3570|-0.3570	5|10	.|0.72032	.|D	.|0.01	-22.5639|-22.5639	13.4767|13.4767	0.61312|0.61312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|388	.|Q5K4L6	.|S27A3_HUMAN	T|D	93|469;388	.|ENSP00000271857:G469D;ENSP00000357650:G388D	.|ENSP00000271857:G469D	A|G	+|+	1|2	0|0	SLC27A3|SLC27A3	152016306|152016306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.657000|0.657000	0.38888|0.38888	7.282000|7.282000	0.78630|0.78630	2.581000|2.581000	0.87130|0.87130	0.491000|0.491000	0.48974|0.48974	GCT|GGC	SLC27A3	-	pfam_AMP-dep_Synth/Lig	ENSG00000143554		0.532	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	HGNC	protein_coding			0	31	0	G	NM_024330		153749682	1			no_errors	ENST00000368661	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A	A	153749682	G	A	153749682	3	1	123	1	0	0	0	0	1	0	0	0	14572	1203	42	3	1173	3	SLC27A3	1	153749682	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	1465089	153749682	95500939	8	31929											
SPTA1	6708	genome.wustl.edu	37	chr1	158619670	158619670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaacacttcaacagcatggGcactgcccagcagctgccgc	11	5	10	15	1	1	0	1	0	0	0	1	1	1	0	2	1	7	4	2	1	2	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:158619670G>T	ENST00000368147.4	-	25	3725	c.3545C>A	c.(3544-3546)gCc>gAc	p.A1182D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1182					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)					AACAGCATGGGCACTGCCCAG	0.438																																																	0													31	31	31					1																	158619670		1834	4089	5923	SO:0001583	missense	0			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.3545C>A	1.37:g.158619670G>T	ENSP00000357129:p.Ala1182Asp		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.A1182D	ENST00000368147.4	37	c.3545	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328655	0.81690	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.78707	-1.2;-1.2	5.08	4.16	0.48862	.	0.000000	0.32120	N	0.006556	D	0.87688	0.6240	M	0.90870	3.155	0.51482	D	0.999924	D	0.71674	0.998	D	0.75484	0.986	D	0.90488	0.4465	10	0.72032	D	0.01	.	13.7782	0.63066	0.0:0.0:0.8452:0.1548	.	1182	P02549	SPTA1_HUMAN	D	1182	ENSP00000357130:A1182D;ENSP00000357129:A1182D	ENSP00000357129:A1182D	A	-	2	0	SPTA1	156886294	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.717000	0.74707	1.340000	0.45581	0.650000	0.86243	GCC	SPTA1	-	NULL	ENSG00000163554		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0	38	0	G	NM_003126		158619670	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	158619670	G	T	158619670	3	4	123	1	0	0	0	0	1	0	0	0	15163	1203	42	3	3826	3	SPTA1	1	158619670	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	4869988	158619670	90630951	9	31930											
OLFML2B	25903	genome.wustl.edu	37	chr1	161953792	161953792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcaggacaatgacctcctgGctgaagccctcatcgtccag	9	8	9	15	1	2	2	2	2	0	0	5	3	4	3	4	2	1	1	4	2	2	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:161953792G>C	ENST00000294794.3	-	8	2349	c.1926C>G	c.(1924-1926)agC>agG	p.S642R	OLFML2B_ENST00000367940.2_Missense_Mutation_p.S643R|OLFML2B_ENST00000367938.1_Missense_Mutation_p.S125R	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	642	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)			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)			TGACCTCCTGGCTGAAGCCCT	0.612																																																	0													78	70	72					1																	161953792		2203	4300	6503	SO:0001583	missense	0			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.1926C>G	1.37:g.161953792G>C	ENSP00000294794:p.Ser642Arg		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like	p.S642R	ENST00000294794.3	37	c.1926	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669541	0.29693	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.87334	-2.24;-2.24;-2.22	5.36	5.36	0.76844	Olfactomedin-like (3);	.	.	.	.	D	0.83482	0.5264	M	0.72894	2.215	0.25382	N	0.988608	P;P	0.34699	0.464;0.464	B;B	0.39971	0.315;0.222	D	0.86020	0.1506	8	0.62326	D	0.03	.	11.6415	0.51235	0.0:0.0:0.8225:0.1775	.	643;642	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	R	642;643;125	ENSP00000294794:S642R;ENSP00000356917:S643R;ENSP00000356915:S125R	ENSP00000294794:S642R	S	-	3	2	OLFML2B	160220416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.418000	0.44662	2.491000	0.84063	0.561000	0.74099	AGC	OLFML2B	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000162745		0.612	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2		0	51	0	G	NM_015441		161953792	-1			no_errors	ENST00000294794	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	C	C	161953792	G	C	161953792	3	2	123	1	0	0	0	0	1	0	0	0	10897	1194	42	5	330	5	OLFML2B	1	161953792	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	3334122	161953792	87296829	10	31931											
GPR161	23432	genome.wustl.edu	37	chr1	168066418	168066418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaagtgccatcacagcccGgttccctgtgatcttcatgg	8	10	10	13	1	3	1	2	1	1	0	4	2	4	1	3	2	2	1	3	2	1	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:168066418G>A	ENST00000367838.1	-	5	740	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	GPR161_ENST00000367836.1_Missense_Mutation_p.R11W|GPR161_ENST00000271357.5_Missense_Mutation_p.R143W|GPR161_ENST00000361697.2_Missense_Mutation_p.R143W|GPR161_ENST00000546300.1_Missense_Mutation_p.R29W|GPR161_ENST00000537209.1_Missense_Mutation_p.R163W|GPR161_ENST00000539777.1_Missense_Mutation_p.R65W|GPR161_ENST00000367835.1_Missense_Mutation_p.R143W	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	143					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)					ATCACAGCCCGGTTCCCTGTG	0.542																																																	0													79	68	72					1																	168066418		2203	4300	6503	SO:0001583	missense	0			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.427C>T	1.37:g.168066418G>A	ENSP00000356812:p.Arg143Trp		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R163W	ENST00000367838.1	37	c.487	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547785	0.65311	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	4.98	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.87456	2.885	0.51233	D	0.999919	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	0.998;1.0;0.999;0.999;0.998;0.999	T	0.63821	-0.6550	9	0.87932	D	0	-24.2157	6.9499	0.24540	0.0878:0.0:0.6272:0.2849	.	163;29;65;163;143;143	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	W	143;143;11;143;29;65;163;143	ENSP00000356812:R143W;ENSP00000271357:R143W;ENSP00000356810:R11W;ENSP00000356809:R143W;ENSP00000444348:R29W;ENSP00000437576:R65W;ENSP00000441039:R163W;ENSP00000355194:R143W	ENSP00000271357:R143W	R	-	1	2	GPR161	166333042	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	3.980000	0.56895	1.236000	0.43740	0.561000	0.74099	CGG	GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000143147		0.542	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1		0	42	0	G	NM_007369		168066418	-1			no_errors	ENST00000537209	ensembl	human	known	74_37	missense	20.37	43	11	SNP	1.000	A	A	168066418	G	A	168066418	3	1	123	1	0	0	0	0	1	0	0	0	6691	1115	39	1	1178	1	GPR161	1	168066418	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	6112626	168066418	81184203	11	31932											
PAPPA2	60676	genome.wustl.edu	37	chr1	176734869	176734869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcttgatcatgctgatgtgGtgaactgtacctctataggc	8	14	11	8	0	2	3	1	3	1	0	2	3	2	3	1	2	4	3	1	2	4	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:176734869G>C	ENST00000367662.3	+	15	5383	c.4219G>C	c.(4219-4221)Gtg>Ctg	p.V1407L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1407	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCTGATGTGGTGAACTGTAC	0.512																																																	0													188	183	184					1																	176734869		2086	4224	6310	SO:0001583	missense	0			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.4219G>C	1.37:g.176734869G>C	ENSP00000356634:p.Val1407Leu		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.V1407L	ENST00000367662.3	37	c.4219	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938908	0.34189	.	.	ENSG00000116183	ENST00000367662	T	0.01599	4.74	5.69	5.69	0.88448	Sushi/SCR/CCP (1);	0.483859	0.21267	N	0.077399	T	0.01870	0.0059	L	0.37800	1.135	0.80722	D	1	B	0.17667	0.023	B	0.19148	0.024	T	0.57335	-0.7829	10	0.20046	T	0.44	-12.0609	8.3831	0.32483	0.0815:0.1569:0.7616:0.0	.	1407	Q9BXP8	PAPP2_HUMAN	L	1407	ENSP00000356634:V1407L	ENSP00000356634:V1407L	V	+	1	0	PAPPA2	175001492	0.999000	0.42202	0.997000	0.53966	0.860000	0.49131	2.594000	0.46189	2.691000	0.91804	0.655000	0.94253	GTG	PAPPA2	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP	ENSG00000116183		0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1		0	62	0	G			176734869	1			no_errors	ENST00000367662	ensembl	human	known	74_37	missense	26.87	49	18	SNP	0.966	C	C	176734869	G	C	176734869	3	2	123	1	0	0	0	0	1	0	0	0	11472	1261	44	5	4326	5	PAPPA2	1	176734869	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	8668451	176734869	72515752	12	31933											
TPR	7175	genome.wustl.edu	37	chr1	186304481	186304481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctaatcaccttattagaagGttcttgaggctcatctctct	9	15	7	10	0	5	2	2	1	3	1	6	2	5	2	1	2	0	3	1	2	4	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:186304481G>T	ENST00000367478.4	-	34	5196	c.4900C>A	c.(4900-4902)Cct>Act	p.P1634T		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1634					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)	p.P1635S(1)		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)		TTATTAGAAGGTTCTTGAGGC	0.398			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	1	Substitution - Missense(1)	skin(1)											126	113	117					1																	186304481		1874	4120	5994	SO:0001583	missense	0			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.4900C>A	1.37:g.186304481G>T	ENSP00000356448:p.Pro1634Thr		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.P1634T	ENST00000367478.4	37	c.4900	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	4.289	0.052845	0.08291	.	.	ENSG00000047410	ENST00000367478	T	0.22336	1.96	5.07	2.0	0.26442	.	0.232489	0.45606	D	0.000357	T	0.07954	0.0199	N	0.12182	0.205	0.30953	N	0.724463	B	0.02656	0.0	B	0.01281	0.0	T	0.16482	-1.0401	10	0.13853	T	0.58	.	2.5787	0.04813	0.2718:0.0:0.3469:0.3814	.	1634	P12270	TPR_HUMAN	T	1634	ENSP00000356448:P1634T	ENSP00000356448:P1634T	P	-	1	0	TPR	184571104	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.266000	0.43320	1.260000	0.44134	0.650000	0.86243	CCT	TPR	-	superfamily_Prefoldin	ENSG00000047410		0.398	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2		0	16	0	G	NM_003292		186304481	-1			no_errors	ENST00000367478	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.999	T	T	186304481	G	T	186304481	3	4	123	1	0	0	0	0	1	0	0	0	16464	1261	44	3	2263	3	TPR	1	186304481	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	9569612	186304481	62946140	13	31934											
KMO	23596	genome.wustl.edu	37	chr1	241755423	241755423	+	IGR	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaaaggccgtggactccCtagaacaaatttccaatctc	12	8	7	14	2	1	1	0	0	1	1	4	2	3	2	4	2	1	1	4	2	5	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:241755423C>G	ENST00000366554.2	-	0	2620				KMO_ENST00000366557.4_Missense_Mutation_p.L443V|OPN3_ENST00000469376.1_5'Flank|KMO_ENST00000366559.4_Missense_Mutation_p.L477V|KMO_ENST00000366558.3_Missense_Mutation_p.L464V	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CGTGGACTCCCTAGAACAAAT	0.423																																																	0													78	69	72					1																	241755423		2203	4300	6503	SO:0001628	intergenic_variant	0			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241755423C>G			Q8IX08|Q9Y344	Splice_Site	SNP	-	NULL	ENST00000366554.2	37	c.NULL	CCDS31072.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.23|11.23	1.577294|1.577294	0.28092|0.28092	.|.	.|.	ENSG00000117009|ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557|ENST00000366555	T;T;T|.	0.54675|.	0.84;0.84;0.56|.	5.29|5.29	2.13|2.13	0.27403|0.27403	.|.	1.828720|.	0.02736|.	N|.	0.115684|.	T|T	0.23249|0.23249	0.0562|0.0562	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999992|0.999992	B|.	0.15930|.	0.015|.	B|.	0.21151|.	0.033|.	T|T	0.20207|0.20207	-1.0282|-1.0282	10|5	0.27082|.	T|.	0.32|.	.|.	5.3934|5.3934	0.16257|0.16257	0.3824:0.5225:0.0:0.0951|0.3824:0.5225:0.0:0.0951	.|.	477|.	O15229|.	KMO_HUMAN|.	V|R	477;464;443|162	ENSP00000355517:L477V;ENSP00000355516:L464V;ENSP00000355515:L443V|.	ENSP00000355515:L443V|.	L|P	+|+	1|2	2|0	KMO|KMO	239822046|239822046	0.475000|0.475000	0.25894|0.25894	0.248000|0.248000	0.24265|0.24265	0.006000|0.006000	0.05464|0.05464	0.293000|0.293000	0.19029|0.19029	0.787000|0.787000	0.33731|0.33731	0.650000|0.650000	0.86243|0.86243	CTA|CCT	OPN3	-	-	ENSG00000054277		0.423	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN3	HGNC	protein_coding	OTTHUMT00000095713.1		0	27	0	C	NM_014322		241755423	-1			no_errors	ENST00000462265	ensembl	human	known	74_37	splice_site	36.73	31	18	SNP	0.144	G	G	241755423	C	G	241755423	1	3	123	0	1	0	0	0	0	0	0	0	8451	680	24	5		5	KMO	1	241755423	IGR	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	55450942	241755423	7495198	14	31935											
OR2M7	391196	genome.wustl.edu	37	chr1	248487277	248487277	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actatacagcagatgaaaatAacctcttcaaatattgatgt	17	12	5	7	0	2	3	1	2	1	1	2	3	2	3	1	0	3	1	1	0	7	6			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:248487277A>G	ENST00000317965.2	-	1	622	c.594T>C	c.(592-594)gtT>gtC	p.V198V		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V198V(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGAAAATAACCTCTTCAA	0.438																																																	1	Substitution - coding silent(1)	endometrium(1)											245	239	241					1																	248487277		2203	4297	6500	SO:0001819	synonymous_variant	0			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.594T>C	1.37:g.248487277A>G			B2RNL0|Q6IEX6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V198	ENST00000317965.2	37	c.594	CCDS31111.1	1																																																																																			OR2M7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177186		0.438	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	HGNC	protein_coding	OTTHUMT00000097357.1		0	138	0	A	NM_001004691		248487277	-1			no_errors	ENST00000317965	ensembl	human	known	74_37	silent	29.85	94	40	SNP	0.000	G	G	248487277	A	G	248487277	2	3	123	1	0	0	0	0	0	0	0	1	11053	349	13	4		4	OR2M7	1	248487277	Silent	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	6731854	248487277	763344	15	31936											
SPAST	6683	genome.wustl.edu	37	chr2	32289128	32289128	+	Silent	SNP	G	G	T	0	0	1	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	cacctggggctcctcttcgtGtggctctgccagcgcttctc	2	12	11	16	2	3	0	0	0	3	0	6	0	4	0	3	3	2	3	3	3	0	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:32289128G>T	ENST00000315285.3	+	1	353	c.228G>T	c.(226-228)gtG>gtT	p.V76V	SPAST_ENST00000345662.1_Silent_p.V76V	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTCTTCGTGTGGCTCTGCC	0.682																																																	0													39	36	37					2																	32289128		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"ATPases / AAA-type"	11233	protein-coding gene	gene with protein product		604277	"spastic paraplegia 4 (autosomal dominant; spastin)"	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.228G>T	2.37:g.32289128G>T				Silent	SNP	pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin	p.V76	ENST00000315285.3	37	c.228	CCDS1778.1	2																																																																																			SPAST	-	pirsf_Spastin	ENSG00000021574		0.682	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAST	HGNC	protein_coding	OTTHUMT00000250253.1		0	50	0	G	NM_199436		32289128	1			no_errors	ENST00000315285	ensembl	human	known	74_37	silent	40.00	33	22	SNP	0.999	T	T	32289128	G	T	32289128	2	4	123	1	0	0	0	0	0	0	0	1	15044	1364	48	3		3	SPAST	2	32289128	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09		32289128	210910245	16	31937											
HEATR5B	54497	genome.wustl.edu	37	chr2	37268370	37268370	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctattccaccaacataaCgatgcaaacaaccaagagcc	17	5	5	14	1	0	1	0	0	0	1	1	2	1	1	5	0	7	1	5	0	6	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:37268370C>G	ENST00000233099.5	-	19	2857	c.2762G>C	c.(2761-2763)cGt>cCt	p.R921P	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R921P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	921						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)				ACCAACATAACGATGCAAACA	0.428																																																	0													172	151	158					2																	37268370		2203	4300	6503	SO:0001583	missense	0			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.2762G>C	2.37:g.37268370C>G	ENSP00000233099:p.Arg921Pro		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R921P	ENST00000233099.5	37	c.2762	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.151404	0.94645	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.07567	3.18;3.18	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32508	-0.9904	10	0.72032	D	0.01	-17.0957	19.2841	0.94063	0.0:1.0:0.0:0.0	.	921	Q9P2D3	HTR5B_HUMAN	P	921	ENSP00000233099:R921P;ENSP00000346531:R921P	ENSP00000233099:R921P	R	-	2	0	HEATR5B	37121874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.535000	0.85469	0.655000	0.94253	CGT	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1		0	54	0	C	NM_019024		37268370	-1			no_errors	ENST00000233099	ensembl	human	known	74_37	missense	7.41	49	4	SNP	1.000	G	G	37268370	C	G	37268370	3	3	123	1	0	0	0	0	1	0	0	0	7059	536	19	5	3525	5	HEATR5B	2	37268370	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	4979242	37268370	205931003	17	31938											
B3GNT2	10678	genome.wustl.edu	37	chr2	62449623	62449623	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcgggcaggctctccaatAtaagccatctgaactactgc	11	8	10	12	1	2	1	0	1	2	0	3	1	2	1	2	3	4	2	2	3	5	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:62449623A>G	ENST00000301998.4	+	2	520	c.268A>G	c.(268-270)Ata>Gta	p.I90V	B3GNT2_ENST00000405767.1_Missense_Mutation_p.I90V	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	90					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)			GCTCTCCAATATAAGCCATCT	0.527																																																	0													244	277	266					2																	62449623		2203	4300	6503	SO:0001583	missense	0			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.268A>G	2.37:g.62449623A>G	ENSP00000305595:p.Ile90Val		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.I90V	ENST00000301998.4	37	c.268	CCDS1870.1	2	.	.	.	.	.	.	.	.	.	.	A	0.805	-0.753895	0.03041	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.26223	1.75;1.75	5.75	-2.56	0.06268	.	1.103980	0.06685	N	0.768588	T	0.14917	0.0360	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	10	0.25106	T	0.35	.	6.9549	0.24565	0.1873:0.1216:0.5722:0.119	.	90	Q9NY97	B3GN2_HUMAN	V	90	ENSP00000305595:I90V;ENSP00000384692:I90V	ENSP00000305595:I90V	I	+	1	0	B3GNT2	62303127	0.000000	0.05858	0.000000	0.03702	0.373000	0.29922	0.236000	0.17967	-0.370000	0.08016	-0.274000	0.10170	ATA	B3GNT2	-	NULL	ENSG00000170340		0.527	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT2	HGNC	protein_coding	OTTHUMT00000251606.2		0	10	0	A	NM_006577		62449623	1			no_errors	ENST00000301998	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.000	G	G	62449623	A	G	62449623	3	3	123	1	0	0	0	0	1	0	0	0	1258	449	16	4	270	4	B3GNT2	2	62449623	Missense_Mutation	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	25181253	62449623	180749750	18	31939											
CLEC4F	165530	genome.wustl.edu	37	chr2	71043299	71043299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtctaacatctgggtctggGaagttaaggctgaagcattc	10	12	12	7	0	3	1	0	1	3	0	4	2	3	2	0	3	2	3	0	3	4	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:71043299G>T	ENST00000272367.2	-	4	1290	c.1214C>A	c.(1213-1215)tCc>tAc	p.S405Y	CLEC4F_ENST00000426626.1_Missense_Mutation_p.S405Y	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	405					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						CTGGGTCTGGGAAGTTAAGGC	0.443																																					Colon(107;10 2157 6841 26035)												0													140	130	133					2																	71043299		2203	4300	6503	SO:0001583	missense	0			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.1214C>A	2.37:g.71043299G>T	ENSP00000272367:p.Ser405Tyr		A4QPA5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.S405Y	ENST00000272367.2	37	c.1214	CCDS1910.1	2	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651380	0.47362	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.42513	0.97;0.97	3.99	3.99	0.46301	.	0.362699	0.20395	N	0.093161	T	0.61135	0.2323	M	0.74647	2.275	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.963	T	0.52563	-0.8559	10	0.72032	D	0.01	.	11.8881	0.52615	0.0:0.0:1.0:0.0	.	405;405	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	Y	405	ENSP00000272367:S405Y;ENSP00000390581:S405Y	ENSP00000272367:S405Y	S	-	2	0	CLEC4F	70896807	0.031000	0.19500	0.009000	0.14445	0.100000	0.18952	2.687000	0.46976	2.517000	0.84864	0.467000	0.42956	TCC	CLEC4F	-	NULL	ENSG00000152672		0.443	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1		0	76	0	G	NM_173535		71043299	-1			no_errors	ENST00000272367	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.009	T	T	71043299	G	T	71043299	3	4	123	1	0	0	0	0	1	0	0	0	3523	1174	41	3	571	3	CLEC4F	2	71043299	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	8593676	71043299	172156074	19	31940											
CD207	50489	genome.wustl.edu	37	chr2	71062705	71062705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactgtgggtgttttccccGggaccagagatggaccggac	7	8	16	10	2	0	1	0	0	0	1	1	6	1	5	4	5	0	1	4	5	0	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:71062705G>T	ENST00000410009.3	-	2	152	c.107C>A	c.(106-108)cCg>cAg	p.P36Q		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	36					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGTTTTCCCCGGGACCAGAGA	0.557																																																	0													77	84	82					2																	71062705		2079	4221	6300	SO:0001583	missense	0			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.107C>A	2.37:g.71062705G>T	ENSP00000386378:p.Pro36Gln			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P36Q	ENST00000410009.3	37	c.107		2	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763808	0.49574	.	.	ENSG00000116031	ENST00000410009	T	0.04603	3.59	4.78	-5.82	0.02333	.	1.591340	0.03905	N	0.280992	T	0.02649	0.0080	N	0.14661	0.345	0.09310	N	1	B	0.25563	0.129	B	0.18263	0.021	T	0.42965	-0.9420	10	0.45353	T	0.12	.	3.6312	0.08133	0.2359:0.1454:0.4764:0.1424	.	36	Q9UJ71	CLC4K_HUMAN	Q	36	ENSP00000386378:P36Q	ENSP00000386378:P36Q	P	-	2	0	CD207	70916213	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.364000	0.02590	-0.797000	0.04450	-0.469000	0.05056	CCG	CD207	-	NULL	ENSG00000116031		0.557	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	HGNC	protein_coding	OTTHUMT00000329959.4		0	44	0	G	NM_015717		71062705	-1			no_errors	ENST00000410009	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.000	T	T	71062705	G	T	71062705	3	4	123	1	0	0	0	0	1	0	0	0	2990	1116	39	2	899	2	CD207	2	71062705	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	19406	71062705	172136668	20	31941											
CTNNA2	1496	genome.wustl.edu	37	chr2	80816472	80816472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagaaggcaaaaatagCtgagcaggtggagatattcc	15	6	15	5	0	0	3	0	1	0	2	1	6	1	4	1	5	2	3	1	5	5	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:80816472C>A	ENST00000402739.4	+	14	2056	c.2051C>A	c.(2050-2052)gCt>gAt	p.A684D	AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A718D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A684D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A684D|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A363D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A684D|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A684D	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	684					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						GCAAAAATAGCTGAGCAGGTG	0.502																																																	0													90	97	95					2																	80816472		2195	4299	6494	SO:0001583	missense	0				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.2051C>A	2.37:g.80816472C>A	ENSP00000384638:p.Ala684Asp		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.A718D	ENST00000402739.4	37	c.2153		2	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661504	0.67700	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	M	0.70903	2.155	0.80722	D	1	B;B;B;B	0.24043	0.001;0.025;0.045;0.096	B;B;B;B	0.28011	0.005;0.085;0.049;0.049	T	0.25082	-1.0142	9	.	.	.	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	316;684;684;684	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	D	684;684;718;684;684;684;363	ENSP00000418191:A684D;ENSP00000419295:A684D;ENSP00000355398:A718D;ENSP00000384638:A684D;ENSP00000444675:A684D;ENSP00000441705:A684D;ENSP00000341500:A363D	.	A	+	2	0	CTNNA2	80669983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.836000	0.97738	0.655000	0.94253	GCT	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.502	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4		0	71	0	C	NM_004389		80816472	1			no_errors	ENST00000361291	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	80816472	C	A	80816472	3	1	123	1	0	0	0	0	1	0	0	0	4022	797	28	3	1897	3	CTNNA2	2	80816472	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	9753767	80816472	162382901	21	31942											
CHST10	9486	genome.wustl.edu	37	chr2	101014417	101014417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgggtgttgcccactttgGgagtctggcagaaaagaatc	10	10	13	8	0	1	2	0	0	1	2	2	3	1	3	1	3	1	2	1	3	3	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:101014417G>T	ENST00000264249.3	-	5	765	c.380C>A	c.(379-381)cCc>cAc	p.P127H	CHST10_ENST00000542617.1_Missense_Mutation_p.P175H|CHST10_ENST00000409701.1_Missense_Mutation_p.P127H	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	127					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GCCCACTTTGGGAGTCTGGCA	0.498																																																	0													136	129	132					2																	101014417		2203	4300	6503	SO:0001583	missense	0			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.380C>A	2.37:g.101014417G>T	ENSP00000264249:p.Pro127His		Q53T18	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.P175H	ENST00000264249.3	37	c.524	CCDS2047.1	2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710055	0.89018	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858	T;T;T;T;T	0.77750	1.28;-1.12;1.28;-1.12;-0.59	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90473	0.7016	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91103	0.4916	10	0.59425	D	0.04	-28.2067	19.812	0.96551	0.0:0.0:1.0:0.0	.	127	O43529	CHSTA_HUMAN	H	127;175;127;127;127	ENSP00000264249:P127H;ENSP00000438869:P175H;ENSP00000387309:P127H;ENSP00000387121:P127H;ENSP00000405922:P127H	ENSP00000264249:P127H	P	-	2	0	CHST10	100380849	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.869000	0.99810	2.685000	0.91497	0.655000	0.94253	CCC	CHST10	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000115526		0.498	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	HGNC	protein_coding	OTTHUMT00000253162.1		0	26	0	G	NM_004854		101014417	-1			no_errors	ENST00000542617	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	T	T	101014417	G	T	101014417	3	4	123	1	0	0	0	0	1	0	0	0	3405	1232	43	3	702	3	CHST10	2	101014417	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	20197945	101014417	142184956	22	31943											
ST6GAL2	84620	genome.wustl.edu	37	chr2	107450593	107450593	+	Missense_Mutation	SNP	T	T	C	0	1	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	agttaaatctcaaaaccgcaTcatgagaatctaagggcaca	17	8	7	9	1	3	1	2	1	2	1	4	2	3	1	1	1	1	3	1	1	6	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:107450593T>C	ENST00000409382.3	-	3	1563	c.953A>G	c.(952-954)gAt>gGt	p.D318G	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.D318G|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.D318G	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	318					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						CAAAACCGCATCATGAGAATC	0.368																																																	0													149	145	147					2																	107450593		2203	4300	6503	SO:0001583	missense	0			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.953A>G	2.37:g.107450593T>C	ENSP00000386942:p.Asp318Gly		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.D318G	ENST00000409382.3	37	c.953	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	T	25.2	4.618048	0.87359	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.56776	0.44;0.44;0.44	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71367	0.3331	M	0.86573	2.825	0.80722	D	1	P;P	0.50066	0.716;0.931	B;P	0.53988	0.323;0.739	T	0.77225	-0.2666	10	0.87932	D	0	-31.0326	15.7393	0.77876	0.0:0.0:0.0:1.0	.	318;318	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	G	318	ENSP00000355273:D318G;ENSP00000386942:D318G;ENSP00000387332:D318G	ENSP00000355273:D318G	D	-	2	0	ST6GAL2	106817025	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	GAT	ST6GAL2	-	pfam_Glyco_trans_29	ENSG00000144057		0.368	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1		0	24	0	T	NM_032528		107450593	-1			no_errors	ENST00000361686	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	C	C	107450593	T	C	107450593	3	2	123	1	0	0	0	0	1	0	0	0	15269	1435	50	4	739	4	ST6GAL2	2	107450593	Missense_Mutation	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	6436176	107450593	135748780	23	31944											
THSD7B	80731	genome.wustl.edu	37	chr2	137872828	137872829	+	Missense_Mutation	DNP	GC	GC	AA																															ggaggtgtactgtgcccagaGcgtaccagcagctgccgcac																										TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:137872828_137872829GC>AA	ENST00000409968.1	+	5	1512_1513	c.1334_1335GC>AA	c.(1333-1335)aGC>aAA	p.S445K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S414K|THSD7B_ENST00000272643.3_Missense_Mutation_p.S445K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	445	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTGCCCAGAGCGTACCAGCAG	0.614																																																	0																																										SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	Exception_encountered	2.37:g.137872828_137872829delinsAA	ENSP00000387145:p.Ser445Lys			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S445N|p.S445R	ENST00000409968.1	37	c.1334|c.1335		2																																																																																			THSD7B	-	superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.614	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2		0	39|38	0	G|C	XM_046570.9		137872828|137872829	1			no_errors	ENST00000272643	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.081|0.005	A	AA	137872829	GC	AA	137872828	3	1	123	1	0	0	0	0	1	0	0	0	15927	971	34	3	1255	3	THSD7B	2	137872828	Missense_Mutation	DNP	GC	TCGA-LN-A5U7-01A-11D-A31U-09	30422235	137872828	105326545	24	31945											
NR4A2	4929	genome.wustl.edu	37	chr2	157185008	157185008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgggcagtttttatttGctaaacacacgtattttgca	10	15	7	9	1	0	0	0	0	0	0	0	0	0	0	1	1	3	5	1	1	4	8			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:157185008G>T	ENST00000339562.4	-	4	1264	c.902C>A	c.(901-903)gCa>gAa	p.A301E	NR4A2_ENST00000409572.1_Missense_Mutation_p.A301E|NR4A2_ENST00000426264.1_Missense_Mutation_p.A238E|NR4A2_ENST00000409108.2_Missense_Mutation_p.A301E|NR4A2_ENST00000429376.1_Missense_Mutation_p.A238E|NR4A2_ENST00000539077.1_Missense_Mutation_p.A312E	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	301					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GTTTTTATTTGCTAAACACAC	0.443																																																	0													85	82	83					2																	157185008		2203	4300	6503	SO:0001583	missense	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.902C>A	2.37:g.157185008G>T	ENSP00000344479:p.Ala301Glu		Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.A312E	ENST00000339562.4	37	c.935	CCDS2201.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.949344|3.949344	0.73787|0.73787	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376|ENST00000406048	D;D;D;D;D;D|.	0.97114|.	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45657|0.45657	0.1353|0.1353	N|N	0.03999|0.03999	-0.3|-0.3	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.61722|.	0.893|.	T|T	0.40534|0.40534	-0.9558|-0.9558	10|5	0.19147|.	T|.	0.46|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	301|.	P43354|.	NR4A2_HUMAN|.	E|R	301;238;301;312;301;238|82	ENSP00000344479:A301E;ENSP00000389986:A238E;ENSP00000386747:A301E;ENSP00000444925:A312E;ENSP00000386993:A301E;ENSP00000410952:A238E|.	ENSP00000344479:A301E|.	A|S	-|-	2|3	0|2	NR4A2|NR4A2	156893254|156893254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.869000|9.869000	0.99810|0.99810	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GCA|AGC	NR4A2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000153234		0.443	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	HGNC	protein_coding	OTTHUMT00000254909.2		0	44	0	G			157185008	-1			no_errors	ENST00000539077	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	157185008	G	T	157185008	3	4	123	1	0	0	0	0	1	0	0	0	10672	1319	46	3	914	3	NR4A2	2	157185008	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	19312180	157185008	86014365	25	31946											
ABCB11	8647	genome.wustl.edu	37	chr2	169801231	169801231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgaaaccaaatttacGtagcctttttgttaggagct	10	14	8	9	1	0	1	0	1	0	0	0	2	0	2	3	1	5	3	3	1	5	6			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:169801231G>T	ENST00000263817.6	-	21	2618	c.2494C>A	c.(2494-2496)Cgt>Agt	p.R832S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	832	ABC transmembrane type-1 2. {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)	CCAAATTTACGTAGCCTTTTT	0.408																																																	0			GRCh37	CM067617	ABCB11	M							110	101	104					2																	169801231		1852	4091	5943	SO:0001583	missense	0			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.2494C>A	2.37:g.169801231G>T	ENSP00000263817:p.Arg832Ser		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R832S	ENST00000263817.6	37	c.2494	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996368	0.74818	.	.	ENSG00000073734	ENST00000263817	D	0.86627	-2.15	5.96	5.07	0.68467	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.086037	0.64402	D	0.000002	D	0.95242	0.8457	H	0.95402	3.665	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.73708	0.981;0.959	D	0.96373	0.9275	10	0.87932	D	0	.	14.3445	0.66651	0.0:0.0:0.6773:0.3227	.	274;832	B4DZQ8;O95342	.;ABCBB_HUMAN	S	832	ENSP00000263817:R832S	ENSP00000263817:R832S	R	-	1	0	ABCB11	169509477	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.293000	0.51779	1.480000	0.48289	0.650000	0.86243	CGT	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000073734		0.408	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2		0	35	0	G	NM_003742		169801231	-1			no_errors	ENST00000263817	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.998	T	T	169801231	G	T	169801231	3	4	123	1	0	0	0	0	1	0	0	0	42	1145	40	2	1503	2	ABCB11	2	169801231	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	12616223	169801231	73398142	26	31947											
OLA1	29789	genome.wustl.edu	37	chr2	175087808	175087809	+	Missense_Mutation	DNP	GC	GC	AA																															cactaatatgagataaaaaaGcattccccaggccctgccca																										TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:175087808_175087809GC>AA	ENST00000409546.1	-	4	1015_1016	c.385_386GC>TT	c.(385-387)GCt>TTt	p.A129F	OLA1_ENST00000344357.5_5'UTR|OLA1_ENST00000284719.3_Missense_Mutation_p.A109F|OLA1_ENST00000428402.2_Missense_Mutation_p.A109F					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						AGATAAAAAAGCATTCCCCAGG	0.386																																																	0																																										SO:0001583	missense	0				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.385_386delinsAA	2.37:g.175087808_175087809delinsAA	ENSP00000386350:p.Ala129Phe			Missense_Mutation	SNP	pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	p.A109V|p.A109S	ENST00000409546.1	37	c.326|c.325		2																																																																																			OLA1	-	pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	ENSG00000138430		0.386	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	OLA1	HGNC	protein_coding	OTTHUMT00000333877.1		0	26	0	G|C	NM_013341		175087808|175087809	-1			no_errors	ENST00000284719	ensembl	human	known	74_37	missense	22.22|19.23	21	6|5	SNP	1.000	A	AA	175087809	GC	AA	175087808	3	1	123	1	0	0	0	0	1	0	0	0	10889	971	34	3	896	3	OLA1	2	175087808	Missense_Mutation	DNP	GC	TCGA-LN-A5U7-01A-11D-A31U-09	5286577	175087808	68111565	27	31948											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098960	178098961	+	In_Frame_Ins	INS	-	-	TAT																															tctcgacttactccaagatcINStatatcttgcctccaaagta																										TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:178098960_178098961insTAT	ENST00000397062.3	-	2	638_639	c.84_85insATA	c.(82-87)atagat>ataATAgat	p.28_29insI	NFE2L2_ENST00000423513.1_In_Frame_Ins_p.12_13insI|NFE2L2_ENST00000446151.2_In_Frame_Ins_p.12_13insI|NFE2L2_ENST00000464747.1_In_Frame_Ins_p.12_13insI|NFE2L2_ENST00000397063.4_In_Frame_Ins_p.12_13insI	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	28					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGCC	0.361			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	15	Substitution - Missense(15)	lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)																																								SO:0001652	inframe_insertion	0				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.82_84dupATA	2.37:g.178098961_178098963dupTAT	ENSP00000380252:p.Ile28_Ile28dup		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	In_Frame_Ins	INS	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.28in_frame_insI	ENST00000397062.3	37	c.85_84	CCDS42782.1	2																																																																																			NFE2L2	-	NULL	ENSG00000116044		0.361	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4		0	36	0	0	NM_006164		178098961	-1			no_errors	ENST00000397062	ensembl	human	known	74_37	in_frame_ins	24.00	57	18	INS	1.000:0.992	TAT	TAT	178098961	-	TAT	178098960	7	5	123	1	0	1	1	0	0	0	0	0	10407	913	32	0	1748	0	NFE2L2	2	178098960	In_Frame_Ins	INS	-	TCGA-LN-A5U7-01A-11D-A31U-09	3011152	178098960	65100413	28	31949											
ITGA4	3676	genome.wustl.edu	37	chr2	182374501	182374501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacttcagccaattcttcaGcagaagaaagaaaaagacat	18	7	6	10	0	3	4	2	0	1	4	3	4	3	4	2	0	2	1	2	0	5	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:182374501G>T	ENST00000397033.2	+	16	2242	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	604					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CAATTCTTCAGCAGAAGAAAG	0.343																																																	0													85	76	79					2																	182374501		1833	4082	5915	SO:0001583	missense	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1812G>T	2.37:g.182374501G>T	ENSP00000380227:p.Gln604His		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q604H	ENST00000397033.2	37	c.1812	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460013	0.63401	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.46451	0.87;0.87	6.02	3.25	0.37280	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	M	0.63843	1.955	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52518	-0.8565	10	0.30854	T	0.27	.	10.7113	0.45984	0.2738:0.0:0.7262:0.0	.	426;604	Q59H74;P13612	.;ITA4_HUMAN	H	604	ENSP00000380227:Q604H;ENSP00000233573:Q604H	ENSP00000233573:Q604H	Q	+	3	2	ITGA4	182082746	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.693000	0.25497	0.882000	0.36016	-0.142000	0.14014	CAG	ITGA4	-	pfam_Integrin_alpha-2	ENSG00000115232		0.343	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1		0	46	0	G			182374501	1			no_errors	ENST00000397033	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	182374501	G	T	182374501	3	4	123	1	0	0	0	0	1	0	0	0	7905	962	34	3	1874	3	ITGA4	2	182374501	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	4275541	182374501	60824872	29	31950											
FSIP2	401024	genome.wustl.edu	37	chr2	186669759	186669759	+	Silent	SNP	T	T	C	0	1	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	ttacagccatttttacatggTgaagaatcatctttcagtga	12	15	7	7	0	3	3	2	2	1	1	3	3	3	3	1	1	3	0	1	1	4	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:186669759T>C	ENST00000424728.1	+	17	15726	c.15726T>C	c.(15724-15726)ggT>ggC	p.G5242G	FSIP2_ENST00000343098.5_Silent_p.G5331G			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5242										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTTTACATGGTGAAGAATCAT	0.338																																																	0																																										SO:0001819	synonymous_variant	0			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.15726T>C	2.37:g.186669759T>C			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.G5331	ENST00000424728.1	37	c.15993		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.338	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3		0	51	0	T	NM_173651		186669759	1			no_errors	ENST00000343098	ensembl	human	known	74_37	silent	50.00	26	26	SNP	0.882	C	C	186669759	T	C	186669759	2	2	123	1	0	0	0	0	0	0	0	1	6099	1683	59	4		4	FSIP2	2	186669759	Silent	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	4295258	186669759	56529614	30	31951											
COL5A2	1290	genome.wustl.edu	37	chr2	189933524	189933524	+	Silent	SNP	A	A	T	1	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	aaacttacaggaagacctggAgagccaactggacctggggg	13	5	14	9	0	0	2	0	0	0	2	0	5	0	4	3	5	4	0	3	5	4	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:189933524A>T	ENST00000374866.3	-	19	1519	c.1245T>A	c.(1243-1245)tcT>tcA	p.S415S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	415					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)			GAAGACCTGGAGAGCCAACTG	0.488																																																	0													32	39	37					2																	189933524		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1245T>A	2.37:g.189933524A>T			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.S415	ENST00000374866.3	37	c.1245	CCDS33350.1	2																																																																																			COL5A2	-	NULL	ENSG00000204262		0.488	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1		0	53	0	A	NM_000393		189933524	-1			no_errors	ENST00000374866	ensembl	human	known	74_37	silent	50.00	23	23	SNP	0.282	T	T	189933524	A	T	189933524	2	4	123	1	0	0	0	0	0	0	0	1	3704	291	11	5		5	COL5A2	2	189933524	Silent	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	3263765	189933524	53265849	31	31952											
MFSD6	54842	genome.wustl.edu	37	chr2	191301211	191301211	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctgggcattggatttgtCaaacctgctaccttgagatg	10	12	10	9	0	1	1	1	1	0	1	1	3	1	2	3	2	4	2	3	2	3	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:191301211C>G	ENST00000392328.1	+	3	780	c.456C>G	c.(454-456)gtC>gtG	p.V152V	MFSD6_ENST00000281416.7_Silent_p.V152V	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	152					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						TTGGATTTGTCAAACCTGCTA	0.428																																																	0													82	85	84					2																	191301211		2203	4300	6503	SO:0001819	synonymous_variant	0				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.456C>G	2.37:g.191301211C>G			D3KSZ4|Q86TH2|Q9NXM3	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.V152	ENST00000392328.1	37	c.456	CCDS2306.1	2																																																																																			MFSD6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000151690		0.428	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6	HGNC	protein_coding	OTTHUMT00000255931.1		0	20	0	C			191301211	1			no_errors	ENST00000281416	ensembl	human	known	74_37	silent	34.29	23	12	SNP	0.979	G	G	191301211	C	G	191301211	2	3	123	1	0	0	0	0	0	0	0	1	9573	813	29	5		5	MFSD6	2	191301211	Silent	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	1367687	191301211	51898162	32	31953											
PTH2R	5746	genome.wustl.edu	37	chr2	209345817	209345817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattttattctgtttctgaAtacggttagagttctagcta	10	18	8	5	1	3	2	0	1	3	1	3	3	3	2	0	1	2	4	0	1	7	9			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:209345817A>G	ENST00000272847.2	+	10	1217	c.1004A>G	c.(1003-1005)aAt>aGt	p.N335S	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	335					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	CTGTTTCTGAATACGGTTAGA	0.338																																																	0													91	91	91					2																	209345817		2203	4300	6503	SO:0001583	missense	0			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1004A>G	2.37:g.209345817A>G	ENSP00000272847:p.Asn335Ser		Q8N429	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.N335S	ENST00000272847.2	37	c.1004	CCDS2383.1	2	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489809	0.84962	.	.	ENSG00000144407	ENST00000272847	T	0.34859	1.34	5.69	5.69	0.88448	GPCR, family 2-like (1);	0.000000	0.50627	D	0.000106	T	0.59932	0.2230	M	0.75615	2.305	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61247	-0.7101	9	.	.	.	.	14.189	0.65625	1.0:0.0:0.0:0.0	.	224;335	B4DFN8;P49190	.;PTH2R_HUMAN	S	335	ENSP00000272847:N335S	.	N	+	2	0	PTH2R	209054062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.852000	0.92215	2.293000	0.77203	0.528000	0.53228	AAT	PTH2R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000144407		0.338	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	HGNC	protein_coding	OTTHUMT00000256519.2		0	84	0	A	NM_005048		209345817	1			no_errors	ENST00000272847	ensembl	human	known	74_37	missense	15.31	83	15	SNP	1.000	G	G	209345817	A	G	209345817	3	3	123	1	0	0	0	0	1	0	0	0	12803	101	4	4	1042	4	PTH2R	2	209345817	Missense_Mutation	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	18044606	209345817	33853556	33	31954											
SPHKAP	80309	genome.wustl.edu	37	chr2	228996765	228996765	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcctctgccctgctgcggTtccaaaacgtcatacatccg	8	9	8	16	3	2	0	1	0	1	0	4	0	4	0	4	1	6	2	4	1	3	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:228996765T>C	ENST00000392056.3	-	2	115	c.69A>G	c.(67-69)gaA>gaG	p.E23E	SPHKAP_ENST00000344657.5_Silent_p.E23E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	23						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)		CCTGCTGCGGTTCCAAAACGT	0.473																																																	0													89	92	91					2																	228996765		2203	4300	6503	SO:0001819	synonymous_variant	0				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.69A>G	2.37:g.228996765T>C			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.E23	ENST00000392056.3	37	c.69	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1		0	48	0	T	NM_030623		228996765	-1			no_errors	ENST00000392056	ensembl	human	known	74_37	silent	40.62	19	13	SNP	0.000	C	C	228996765	T	C	228996765	2	2	123	1	0	0	0	0	0	0	0	1	15095	1722	60	4		4	SPHKAP	2	228996765	Silent	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	19650948	228996765	14202608	34	31955											
DNER	92737	genome.wustl.edu	37	chr2	230312083	230312083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgctgcggcacgtgccatGagcacaggggctgagggcac	8	4	16	13	3	0	2	0	2	0	0	0	2	0	2	1	4	3	5	1	4	0	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:230312083G>A	ENST00000341772.4	-	8	1569	c.1435C>T	c.(1435-1437)Cat>Tat	p.H479Y		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	479	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.H479Y(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CACGTGCCATGAGCACAGGGG	0.577																																																	1	Substitution - Missense(1)	skin(1)											47	42	43					2																	230312083		2203	4300	6503	SO:0001583	missense	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1435C>T	2.37:g.230312083G>A	ENSP00000345229:p.His479Tyr		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.H479Y	ENST00000341772.4	37	c.1435	CCDS33390.1	2	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763120	0.69763	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.87729	-2.29	4.94	4.94	0.65067	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	L	0.43757	1.38	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.91001	0.4842	10	0.46703	T	0.11	.	18.5296	0.90986	0.0:0.0:1.0:0.0	.	479	Q8NFT8	DNER_HUMAN	Y	479;197	ENSP00000345229:H479Y	ENSP00000345229:H479Y	H	-	1	0	DNER	230020327	1.000000	0.71417	0.444000	0.26895	0.515000	0.34225	9.278000	0.95766	2.442000	0.82660	0.655000	0.94253	CAT	DNER	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000187957		0.577	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1		0	31	0	G	NM_139072		230312083	-1			no_errors	ENST00000341772	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.998	A	A	230312083	G	A	230312083	3	1	123	1	0	0	0	0	1	0	0	0	4681	1290	45	3	802	3	DNER	2	230312083	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	1315318	230312083	12887290	35	31956											
C3orf19	51244	genome.wustl.edu	37	chr3	14693378	14693378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcctttggacgtcacggCctcctcggtgagtgagggta	8	9	14	10	3	1	2	1	2	0	0	3	3	2	3	3	4	1	1	3	4	2	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:14693378C>A	ENST00000383794.3	+	1	108	c.35C>A	c.(34-36)gCc>gAc	p.A12D	CCDC174_ENST00000303688.7_Missense_Mutation_p.A12D|AC090952.5_ENST00000424242.1_RNA	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	12						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GACGTCACGGCCTCCTCGGTG	0.582																																																	0													61	66	64					3																	14693378		1951	4147	6098	SO:0001583	missense	0			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 19"	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.35C>A	3.37:g.14693378C>A	ENSP00000373304:p.Ala12Asp		Q96CS5	Missense_Mutation	SNP	NULL	p.A12D	ENST00000383794.3	37	c.35	CCDS2620.2	3	.	.	.	.	.	.	.	.	.	.	C	15.70	2.912194	0.52439	.	.	ENSG00000154781	ENST00000383794;ENST00000303688	T;T	0.52057	0.68;0.72	4.61	4.61	0.57282	.	0.063135	0.64402	D	0.000006	T	0.58061	0.2096	M	0.82823	2.61	0.51233	D	0.999912	D	0.54047	0.964	P	0.49752	0.621	T	0.64685	-0.6349	10	0.59425	D	0.04	-20.347	10.6227	0.45489	0.0:0.9072:0.0:0.0928	.	12	Q6PII3	CC019_HUMAN	D	12	ENSP00000373304:A12D;ENSP00000302344:A12D	ENSP00000302344:A12D	A	+	2	0	C3orf19	14668382	0.998000	0.40836	0.718000	0.30602	0.740000	0.42216	2.246000	0.43142	2.388000	0.81334	0.467000	0.42956	GCC	CCDC174	-	NULL	ENSG00000154781		0.582	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC174	HGNC	protein_coding	OTTHUMT00000252077.2		0	40	0	C	NM_016474		14693378	1			no_errors	ENST00000383794	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.980	A	A	14693378	C	A	14693378	3	1	123	1	0	0	0	0	1	0	0	0	2219	739	26	3	37	3	C3orf19	3	14693378	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09		14693378	183329052	36	31957											
SLC6A20	54716	genome.wustl.edu	37	chr3	45817259	45817259	+	Silent	SNP	A	A	G	1	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	cctcactgtcccaccttgccAgtggactcggtgccacgcag	6	8	10	17	2	1	0	1	0	0	0	3	1	2	1	5	2	2	1	5	2	0	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:45817259A>G	ENST00000358525.4	-	4	691	c.576T>C	c.(574-576)acT>acC	p.T192T	SLC6A20_ENST00000456124.2_Silent_p.T192T|SLC6A20_ENST00000353278.4_Silent_p.T192T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	192					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCACCTTGCCAGTGGACTCGG	0.667																																																	0													62	58	59					3																	45817259		2203	4300	6503	SO:0001819	synonymous_variant	0			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.576T>C	3.37:g.45817259A>G			A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.T192	ENST00000358525.4	37	c.576	CCDS43077.1	3																																																																																			SLC6A20	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000163817		0.667	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	HGNC	protein_coding	OTTHUMT00000257318.3		0	32	0	A	NM_020208		45817259	-1			no_errors	ENST00000358525	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.001	G	G	45817259	A	G	45817259	2	3	123	1	0	0	0	0	0	0	0	1	14729	175	7	4		4	SLC6A20	3	45817259	Silent	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	31123881	45817259	152205171	37	31958											
PLXNB1	5364	genome.wustl.edu	37	chr3	48465887	48465887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagcccccaggtagagggtgCctgaggtggggtcccttgcc	5	8	16	12	0	0	2	0	1	0	1	1	2	1	2	5	5	3	1	5	5	2	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:48465887C>T	ENST00000358536.4	-	3	403	c.134G>A	c.(133-135)gGc>gAc	p.G45D	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G45D|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G45D|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G45D	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	45	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)		GTAGAGGGTGCCTGAGGTGGG	0.647																																																	0													31	23	25					3																	48465887		2203	4300	6503	SO:0001583	missense	0			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.134G>A	3.37:g.48465887C>T	ENSP00000351338:p.Gly45Asp		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G45D	ENST00000358536.4	37	c.134	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252936	0.80135	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	4.04	4.04	0.47022	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.070429	0.56097	D	0.000034	T	0.31167	0.0788	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.37220	-0.9715	10	0.56958	D	0.05	.	15.5616	0.76253	0.0:1.0:0.0:0.0	.	45;45	O43157;O43157-2	PLXB1_HUMAN;.	D	45	ENSP00000296440:G45D;ENSP00000351242:G45D;ENSP00000351338:G45D;ENSP00000414199:G45D	ENSP00000296440:G45D	G	-	2	0	PLXNB1	48440891	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.749000	0.85096	1.960000	0.56953	0.655000	0.94253	GGC	PLXNB1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000164050		0.647	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1		0	63	0	C	NM_002673		48465887	-1			no_errors	ENST00000296440	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	48465887	C	T	48465887	3	4	123	1	0	0	0	0	1	0	0	0	12162	739	26	3	6417	3	PLXNB1	3	48465887	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	2648628	48465887	149556543	38	31959											
COL7A1	1294	genome.wustl.edu	37	chr3	48624968	48624968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaccacacgtagttcaatGcttggaacacgaggtgactc	11	9	9	12	2	1	1	1	1	0	0	3	3	2	2	2	2	2	3	2	2	3	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:48624968G>T	ENST00000328333.8	-	22	2984	c.2877C>A	c.(2875-2877)agC>agA	p.S959R	COL7A1_ENST00000454817.1_Missense_Mutation_p.S959R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	959	Fibronectin type-III 9. {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)		GTAGTTCAATGCTTGGAACAC	0.557																																																	0													67	66	66					3																	48624968		2203	4300	6503	SO:0001583	missense	0			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.2877C>A	3.37:g.48624968G>T	ENSP00000332371:p.Ser959Arg		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.S959R	ENST00000328333.8	37	c.2877	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	8.439	0.850469	0.17034	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.85556	-2.0;-2.0	5.61	1.51	0.23008	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.124687	0.37437	N	0.002083	T	0.73845	0.3639	N	0.24115	0.695	0.09310	N	1	B	0.25272	0.122	B	0.33121	0.158	T	0.63721	-0.6573	10	0.49607	T	0.09	.	5.6132	0.17416	0.2244:0.2669:0.5086:0.0	.	959	Q02388	CO7A1_HUMAN	R	959	ENSP00000332371:S959R;ENSP00000412569:S959R	ENSP00000332371:S959R	S	-	3	2	COL7A1	48599972	0.001000	0.12720	0.981000	0.43875	0.798000	0.45092	0.043000	0.13971	0.397000	0.25310	0.655000	0.94253	AGC	COL7A1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000114270		0.557	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1		0	20	0	G	NM_000094		48624968	-1			no_errors	ENST00000328333	ensembl	human	known	74_37	missense	88.89	2	16	SNP	0.148	T	T	48624968	G	T	48624968	3	4	123	1	0	0	0	0	1	0	0	0	3711	1310	46	3	6345	3	COL7A1	3	48624968	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	159081	48624968	149397462	39	31960											
RBM6	10180	genome.wustl.edu	37	chr3	50098935	50098935	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgattctgctactggctaCtattatgaccccttggcagg	8	14	9	10	0	1	2	0	2	1	0	1	2	1	2	2	3	3	3	2	3	5	7			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:50098935C>T	ENST00000266022.4	+	14	2653	c.2394C>T	c.(2392-2394)taC>taT	p.Y798Y	RBM6_ENST00000539992.1_Silent_p.Y140Y|RBM6_ENST00000442092.1_Silent_p.Y276Y|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.Y276Y|RBM6_ENST00000443081.1_Silent_p.Y666Y	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	798					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)		CTACTGGCTACTATTATGACC	0.388																																																	0													164	159	161					3																	50098935		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2394C>T	3.37:g.50098935C>T			O60549|O75524|Q86SS3	Silent	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.Y798	ENST00000266022.4	37	c.2394	CCDS2809.1	3																																																																																			RBM6	-	NULL	ENSG00000004534		0.388	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4		0	116	0	C	NM_005777		50098935	1			no_errors	ENST00000266022	ensembl	human	known	74_37	silent	36.96	58	34	SNP	1.000	T	T	50098935	C	T	50098935	2	4	123	1	0	0	0	0	0	0	0	1	13189	576	20	3		3	RBM6	3	50098935	Silent	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	1473967	50098935	147923495	40	31961											
ZMYND10	51364	genome.wustl.edu	37	chr3	50379081	50379081	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtaagcacagcggggccGctctggagccactgcctcta	8	6	13	14	2	2	0	0	0	2	0	2	1	2	1	3	3	4	4	3	3	2	2	rs150467144	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:50379081G>T	ENST00000231749.3	-	11	2443	c.1171C>A	c.(1171-1173)Cgg>Agg	p.R391R	ZMYND10_ENST00000490675.1_5'UTR|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000488024.1_5'Flank|ZMYND10_ENST00000360165.3_Silent_p.R386R|RASSF1_ENST00000359365.4_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	391	Interaction with LRRC6.				inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGCGGGGCCGCTCTGGAGCC	0.602										TSP Lung(30;0.18)																																							0													56	59	58					3																	50379081		2203	4300	6503	SO:0001819	synonymous_variant	0			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.1171C>A	3.37:g.50379081G>T			A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.R391	ENST00000231749.3	37	c.1171	CCDS2825.1	3																																																																																			ZMYND10	-	pirsf_UCP037948_Znf-MYND	ENSG00000004838		0.602	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1		0	36	0	G	NM_015896		50379081	-1			no_errors	ENST00000231749	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.986	T	T	50379081	G	T	50379081	2	4	123	1	0	0	0	0	0	0	0	1	17753	1086	38	2		2	ZMYND10	3	50379081	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	280146	50379081	147643349	41	31962											
CADM2	253559	genome.wustl.edu	37	chr3	86114860	86114860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctatctttctgcttggtcGatatctggcaaggcataaag	9	15	9	8	1	4	0	0	0	4	0	5	1	4	0	0	3	1	3	0	3	5	6			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:86114860G>A	ENST00000407528.2	+	9	1231	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	CADM2_ENST00000383699.3_Missense_Mutation_p.R359Q|CADM2_ENST00000405615.2_Missense_Mutation_p.R392Q	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	390					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R392Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGCTTGGTCGATATCTGGCA	0.408																																																	1	Substitution - Missense(1)	large_intestine(1)											201	171	181					3																	86114860		2203	4300	6503	SO:0001583	missense	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1169G>A	3.37:g.86114860G>A	ENSP00000384575:p.Arg390Gln		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.R392Q	ENST00000407528.2	37	c.1175	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528575	0.85706	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.71698	-0.38;-0.59;-0.59	5.76	5.76	0.90799	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	D	0.84070	0.5391	M	0.77313	2.365	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79108	0.981;0.99;0.992	T	0.79495	-0.1780	10	0.19590	T	0.45	.	19.964	0.97260	0.0:0.0:1.0:0.0	.	392;359;390	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	Q	359;390;392	ENSP00000373200:R359Q;ENSP00000384575:R390Q;ENSP00000384193:R392Q	ENSP00000373200:R359Q	R	+	2	0	CADM2	86197550	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	8.062000	0.89475	2.721000	0.93114	0.650000	0.86243	CGA	CADM2	-	smart_Neurexin-like	ENSG00000175161		0.408	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1		0	67	0	G	NM_153184		86114860	1			no_errors	ENST00000405615	ensembl	human	known	74_37	missense	86.36	6	38	SNP	1.000	A	A	86114860	G	A	86114860	3	1	123	1	0	0	0	0	1	0	0	0	2574	1058	37	1	1274	1	CADM2	3	86114860	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	35735779	86114860	111907570	42	31963											
WDR52	55779	genome.wustl.edu	37	chr3	113085073	113085073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagtagtccaccaaactgGtcaatgaaggatcattttga	13	10	9	9	0	2	2	2	2	0	0	3	3	3	3	3	2	1	1	3	2	4	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:113085073G>C	ENST00000295868.2	-	19	2690	c.2528C>G	c.(2527-2529)aCc>aGc	p.T843S	WDR52_ENST00000393845.2_Missense_Mutation_p.T843S	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						CACCAAACTGGTCAATGAAGG	0.338																																																	0													103	93	97					3																	113085073		2203	4300	6503	SO:0001583	missense	0																														ENST00000295868.2:c.2528C>G	3.37:g.113085073G>C	ENSP00000295868:p.Thr843Ser			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T843S	ENST00000295868.2	37	c.2528	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.538746	0.00942	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.15952	2.38;2.38	5.59	-5.22	0.02806	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.10594	0.0259	L	0.46157	1.445	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.37753	-0.9692	8	.	.	.	.	2.2434	0.04025	0.2093:0.4072:0.1558:0.2277	.	843;843	Q96MT7;Q96MT7-2	WDR52_HUMAN;.	S	843	ENSP00000377428:T843S;ENSP00000295868:T843S	.	T	-	2	0	WDR52	114567763	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.504000	0.06375	-0.866000	0.04068	0.650000	0.86243	ACC	WDR52	-	superfamily_WD40_repeat_dom	ENSG00000206530		0.338	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3		0	48	0	G			113085073	-1			no_errors	ENST00000393845	ensembl	human	known	74_37	missense	13.64	56	9	SNP	0.000	C	C	113085073	G	C	113085073	3	2	123	1	0	0	0	0	1	0	0	0	17353	1261	44	5	3119	5	WDR52	3	113085073	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	26970213	113085073	84937357	43	31964											
CASR	846	genome.wustl.edu	37	chr3	121980842	121980842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcggcaccattggattCgctctgaaggctgggcagat	7	10	15	9	2	1	2	0	1	1	1	2	3	1	3	1	5	0	5	1	5	1	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:121980842C>A	ENST00000490131.1	+	4	1332	c.960C>A	c.(958-960)ttC>ttA	p.F320L	CASR_ENST00000296154.5_Missense_Mutation_p.F320L|CASR_ENST00000498619.1_Missense_Mutation_p.F320L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	320					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCATTGGATTCGCTCTGAAGG	0.577																																																	0													56	50	52					3																	121980842		2203	4300	6503	SO:0001583	missense	0			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.960C>A	3.37:g.121980842C>A	ENSP00000418685:p.Phe320Leu		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.F320L	ENST00000490131.1	37	c.960	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838618	0.71373	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.83914	-1.78;-1.78;-1.78	6.17	-6.77	0.01727	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.83083	0.5177	L	0.33137	0.985	0.58432	D	0.999992	D;D	0.89917	0.997;1.0	D;D	0.83275	0.993;0.996	D	0.83361	0.0002	10	0.56958	D	0.05	.	16.0532	0.80777	0.0:0.5573:0.0:0.4427	.	320;320	E7ENE0;P41180	.;CASR_HUMAN	L	320	ENSP00000418685:F320L;ENSP00000420194:F320L;ENSP00000296154:F320L	ENSP00000296154:F320L	F	+	3	2	CASR	123463532	0.984000	0.35163	0.241000	0.24154	0.974000	0.67602	0.154000	0.16343	-1.268000	0.02439	-0.937000	0.02696	TTC	CASR	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000036828		0.577	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1		0	28	0	C	NM_000388		121980842	1			no_errors	ENST00000498619	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.980	A	A	121980842	C	A	121980842	3	1	123	1	0	0	0	0	1	0	0	0	2689	883	31	2	970	2	CASR	3	121980842	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	8895769	121980842	76041588	44	31965											
PLXNA1	5361	genome.wustl.edu	37	chr3	126708351	126708351	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccattggctgcgagcaggcGggtgtggagtaccgcctggt	5	8	17	11	3	0	0	0	0	0	0	0	2	0	1	3	5	3	3	3	5	1	2	rs139482007		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:126708351G>T	ENST00000393409.2	+	1	915	c.915G>T	c.(913-915)gcG>gcT	p.A305A	PLXNA1_ENST00000251772.4_Silent_p.A282A	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	305	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGAGCAGGCGGGTGTGGAGT	0.652																																																	0													128	135	132					3																	126708351		2202	4300	6502	SO:0001819	synonymous_variant	0			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.915G>T	3.37:g.126708351G>T				Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.A305	ENST00000393409.2	37	c.915	CCDS33847.2	3																																																																																			PLXNA1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000114554		0.652	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1		0	31	0	G	NM_032242		126708351	1			no_errors	ENST00000393409	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.140	T	T	126708351	G	T	126708351	2	4	123	1	0	0	0	0	0	0	0	1	12158	1103	39	2		2	PLXNA1	3	126708351	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	4727509	126708351	71314079	45	31966											
PLXNA1	5361	genome.wustl.edu	37	chr3	126737237	126737237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcattggcggaggcggggGtctcctgctgctggtcatcg	3	9	19	10	3	2	0	1	0	1	0	4	1	2	1	1	7	2	3	1	7	0	1	rs539016754		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:126737237G>A	ENST00000393409.2	+	19	3761	c.3761G>A	c.(3760-3762)gGt>gAt	p.G1254D	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G1231D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1254					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)		GGAGGCGGGGGTCTCCTGCTG	0.632																																																	0													56	46	49					3																	126737237		2203	4300	6503	SO:0001583	missense	0			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.3761G>A	3.37:g.126737237G>A	ENSP00000377061:p.Gly1254Asp			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G1254D	ENST00000393409.2	37	c.3761	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251524	0.59212	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10192	2.9;2.9	4.71	4.71	0.59529	.	0.193257	0.34906	N	0.003583	T	0.25975	0.0633	M	0.71581	2.175	0.80722	D	1	P	0.42375	0.778	P	0.51866	0.682	T	0.01096	-1.1453	10	0.44086	T	0.13	.	16.6262	0.84971	0.0:0.0:1.0:0.0	.	1254	Q9UIW2	PLXA1_HUMAN	D	1254;1231	ENSP00000377061:G1254D;ENSP00000251772:G1231D	ENSP00000251772:G1231D	G	+	2	0	PLXNA1	128219927	1.000000	0.71417	0.544000	0.28141	0.007000	0.05969	9.811000	0.99226	2.158000	0.67659	0.467000	0.42956	GGT	PLXNA1	-	NULL	ENSG00000114554		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1		0	53	0	G	NM_032242		126737237	1			no_errors	ENST00000393409	ensembl	human	known	74_37	missense	19.57	73	18	SNP	1.000	A	A	126737237	G	A	126737237	3	1	123	1	0	0	0	0	1	0	0	0	12158	1261	44	3	3835	3	PLXNA1	3	126737237	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	28886	126737237	71285193	46	31967											
PODXL2	50512	genome.wustl.edu	37	chr3	127390276	127390276	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actggcccctcccacccctaGattggcatccagaactattc	9	9	6	17	0	0	2	0	0	0	2	3	2	2	2	6	2	1	1	6	2	3	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:127390276G>C	ENST00000342480.6	+	7	1464		c.e7-1		ABTB1_ENST00000232744.8_5'Flank|ABTB1_ENST00000468137.1_5'Flank|ABTB1_ENST00000453791.2_5'Flank|ABTB1_ENST00000393363.3_5'Flank	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2						leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCCACCCCTAGATTGGCATCC	0.647																																																	0													49	49	49					3																	127390276		2203	4300	6503	SO:0001630	splice_region_variant	0			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1426-1G>C	3.37:g.127390276G>C			Q6UVY4|Q8WUV6	Splice_Site	SNP	-	e7-1	ENST00000342480.6	37	c.1426-1	CCDS3044.1	3	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636754	0.47049	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3425	0.83092	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PODXL2	128872966	1.000000	0.71417	0.979000	0.43373	0.334000	0.28698	8.745000	0.91600	1.838000	0.53458	0.289000	0.19496	.	PODXL2	-	-	ENSG00000114631		0.647	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	HGNC	protein_coding	OTTHUMT00000356638.1		0	46	0	G	NM_015720	Intron	127390276	1			no_errors	ENST00000342480	ensembl	human	known	74_37	splice_site	34.25	48	25	SNP	1.000	C	C	127390276	G	C	127390276	5	2	123	1	0	0	0	0	0	0	1	0	12220	956	33	5	1451	5	PODXL2	3	127390276	Splice_Site	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	653039	127390276	70632154	47	31968											
SEC61A1	29927	genome.wustl.edu	37	chr3	127775657	127775657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgacaccccaaaagaccGagctctcttcaacggagccc	11	6	9	15	2	2	2	1	1	1	1	3	4	2	3	4	2	3	1	4	2	3	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:127775657G>T	ENST00000243253.3	+	5	510	c.326G>T	c.(325-327)cGa>cTa	p.R109L	SEC61A1_ENST00000464451.1_Missense_Mutation_p.R115L|SEC61A1_ENST00000424880.2_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	109					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CCAAAAGACCGAGCTCTCTTC	0.408																																																	0													69	69	69					3																	127775657		2203	4300	6503	SO:0001583	missense	0			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.326G>T	3.37:g.127775657G>T	ENSP00000243253:p.Arg109Leu		P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.R109L	ENST00000243253.3	37	c.326	CCDS3046.1	3	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697278	0.88830	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000481210	.	.	.	5.79	4.92	0.64577	SecY subunit domain (2);	0.051384	0.85682	D	0.000000	D	0.85687	0.5754	H	0.95850	3.73	0.80722	D	1	P	0.43750	0.816	P	0.57204	0.815	D	0.89689	0.3896	9	0.87932	D	0	.	14.8136	0.70013	0.0687:0.0:0.9313:0.0	.	109	P61619	S61A1_HUMAN	L	115;109;56	.	ENSP00000243253:R109L	R	+	2	0	SEC61A1	129258347	1.000000	0.71417	0.994000	0.49952	0.593000	0.36681	9.869000	0.99810	1.455000	0.47813	0.650000	0.86243	CGA	SEC61A1	-	pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	ENSG00000058262		0.408	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A1	HGNC	protein_coding	OTTHUMT00000356541.2		0	85	0	G	NM_013336		127775657	1			no_errors	ENST00000243253	ensembl	human	known	74_37	missense	48.31	61	57	SNP	1.000	T	T	127775657	G	T	127775657	3	4	123	1	0	0	0	0	1	0	0	0	14045	1058	37	2	344	2	SEC61A1	3	127775657	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	385381	127775657	70246773	48	31969											
COL6A5	256076	genome.wustl.edu	37	chr3	130134526	130134526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggcagaaaaggagaaaaagGaagccaggggcagaaaggac	19	1	16	5	0	0	3	0	0	0	3	0	6	0	5	1	6	1	2	1	6	6	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:130134526G>A	ENST00000432398.2	+	23	5293	c.4799G>A	c.(4798-4800)gGa>gAa	p.G1600E	COL6A5_ENST00000265379.6_Missense_Mutation_p.G1600E	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1600	Triple-helical region.				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						GGAGAAAAAGGAAGCCAGGGG	0.413																																																	0													72	70	71					3																	130134526		692	1591	2283	SO:0001583	missense	0			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.4799G>A	3.37:g.130134526G>A	ENSP00000390895:p.Gly1600Glu		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G1600E	ENST00000432398.2	37	c.4799		3	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386342	0.42308	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.99619	-5.77;-6.28	4.17	4.17	0.49024	.	.	.	.	.	D	0.99782	0.9909	H	0.98388	4.22	0.31491	N	0.665942	D	0.89917	1.0	D	0.97110	1.0	D	0.96541	0.9400	9	0.87932	D	0	.	12.1679	0.54141	0.0:0.0:1.0:0.0	.	1600	A8TX70-2	.	E	1600	ENSP00000390895:G1600E;ENSP00000265379:G1600E	ENSP00000265379:G1600E	G	+	2	0	COL6A5	131617216	0.999000	0.42202	0.943000	0.38184	0.787000	0.44495	4.450000	0.60041	2.327000	0.79052	0.555000	0.69702	GGA	COL6A5	-	pfam_Collagen	ENSG00000172752		0.413	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding			0	18	0	G	NM_153264		130134526	1			no_errors	ENST00000265379	ensembl	human	known	74_37	missense	17.07	34	7	SNP	0.985	A	A	130134526	G	A	130134526	3	1	123	1	0	0	0	0	1	0	0	0	3709	1174	41	3	4885	3	COL6A5	3	130134526	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	2358869	130134526	67887904	49	31970											
COL6A6	131873	genome.wustl.edu	37	chr3	130282064	130282064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctggcccagtacagtGataaacttcacagtgaattc	11	10	9	11	0	1	2	1	2	0	0	2	2	1	2	2	2	2	1	2	2	4	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:130282064G>T	ENST00000358511.6	+	2	248	c.217G>T	c.(217-219)Gat>Tat	p.D73Y	COL6A6_ENST00000453409.2_Missense_Mutation_p.D73Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	73	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 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						CCAGTACAGTGATAAACTTCA	0.498																																																	0													90	86	88					3																	130282064		1912	4117	6029	SO:0001583	missense	0			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.217G>T	3.37:g.130282064G>T	ENSP00000351310:p.Asp73Tyr		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D73Y	ENST00000358511.6	37	c.217	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575318	0.45902	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.80214	-1.35;-1.35	5.36	3.56	0.40772	von Willebrand factor, type A (3);	0.091610	0.47455	D	0.000235	D	0.87728	0.6250	M	0.76574	2.34	0.32079	N	0.593378	D	0.89917	1.0	D	0.72982	0.979	D	0.88870	0.3332	10	0.72032	D	0.01	.	11.373	0.49711	0.1484:0.0:0.8516:0.0	.	73	A6NMZ7	CO6A6_HUMAN	Y	73	ENSP00000351310:D73Y;ENSP00000399236:D73Y	ENSP00000351310:D73Y	D	+	1	0	COL6A6	131764754	0.347000	0.24853	0.105000	0.21289	0.580000	0.36256	1.201000	0.32259	0.744000	0.32741	0.561000	0.74099	GAT	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5		0	50	0	G	NM_001102608		130282064	1			no_errors	ENST00000358511	ensembl	human	known	74_37	missense	31.51	50	23	SNP	0.908	T	T	130282064	G	T	130282064	3	4	123	1	0	0	0	0	1	0	0	0	3710	1290	45	3	223	3	COL6A6	3	130282064	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	147538	130282064	67740366	50	31971											
NEK11	79858	genome.wustl.edu	37	chr3	130947497	130947497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagaaagaaatcaggaatGagggatcccagcctgcttac	15	6	11	9	0	1	3	1	1	0	2	2	6	2	5	2	2	3	1	2	2	4	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:130947497G>A	ENST00000510769.1	+	11	1463	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	NEK11_ENST00000510688.1_Missense_Mutation_p.E509K|NEK11_ENST00000383366.4_Missense_Mutation_p.E509K|NEK11_ENST00000412440.2_Missense_Mutation_p.E325K|NEK11_ENST00000429253.2_Missense_Mutation_p.E509K|NEK11_ENST00000508196.1_Missense_Mutation_p.E509K					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AATCAGGAATGAGGGATCCCA	0.448																																																	0													102	94	96					3																	130947497		2203	4300	6503	SO:0001583	missense	0			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1210G>A	3.37:g.130947497G>A	ENSP00000421549:p.Glu404Lys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E509K	ENST00000510769.1	37	c.1525		3	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627127	0.28978	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000510688;ENST00000383366;ENST00000412440;ENST00000508196	T;T;T;T;T;T	0.72051	-0.56;-0.33;-0.4;-0.33;-0.62;-0.33	5.71	3.75	0.43078	.	1.081900	0.07355	N	0.883092	T	0.64249	0.2581	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.13594	0.001;0.001;0.008;0.007	B;B;B;B	0.16289	0.004;0.003;0.015;0.006	T	0.50890	-0.8774	10	0.35671	T	0.21	.	9.6986	0.40171	0.1763:0.0:0.8237:0.0	.	404;325;509;509	E9PHI8;B4DDN2;Q8NG66-4;Q8NG66	.;.;.;NEK11_HUMAN	K	404;509;509;509;325;509	ENSP00000421549:E404K;ENSP00000397180:E509K;ENSP00000423458:E509K;ENSP00000372857:E509K;ENSP00000411888:E325K;ENSP00000421851:E509K	ENSP00000372857:E509K	E	+	1	0	NEK11	132430187	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.013000	0.12678	0.640000	0.30582	0.609000	0.83330	GAG	NEK11	-	NULL	ENSG00000114670		0.448	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NEK11	HGNC	protein_coding	OTTHUMT00000356757.1		0	14	0	G	NM_024800		130947497	1			no_errors	ENST00000383366	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.004	A	A	130947497	G	A	130947497	3	1	123	1	0	0	0	0	1	0	0	0	10362	1291	45	3	1593	3	NEK11	3	130947497	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	665433	130947497	67074933	51	31972											
B3GALNT1	8706	genome.wustl.edu	37	chr3	160804342	160804342	+	Silent	SNP	A	A	G	1	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	gagcagtttgaatgctctcgAagtgtgaagtgaaagtcttg	11	12	13	5	1	2	3	0	3	2	0	3	5	2	3	0	0	2	3	0	0	4	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:160804342A>G	ENST00000392781.2	-	8	948	c.201T>C	c.(199-201)ctT>ctC	p.L67L	B3GALNT1_ENST00000488170.1_Silent_p.L67L|B3GALNT1_ENST00000392779.2_Silent_p.L67L|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000473285.1_Silent_p.L67L|B3GALNT1_ENST00000392780.1_Silent_p.L67L|B3GALNT1_ENST00000320474.4_Silent_p.L67L	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	67					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)			AATGCTCTCGAAGTGTGAAGT	0.458																																																	0													99	93	95					3																	160804342		2203	4300	6503	SO:0001819	synonymous_variant	0			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.201T>C	3.37:g.160804342A>G			D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Silent	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.L67	ENST00000392781.2	37	c.201	CCDS3193.1	3																																																																																			B3GALNT1	-	NULL	ENSG00000169255		0.458	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GALNT1	HGNC	protein_coding	OTTHUMT00000353125.1		0	62	0	A	NM_033167		160804342	-1			no_errors	ENST00000320474	ensembl	human	known	74_37	silent	8.41	98	9	SNP	0.017	G	G	160804342	A	G	160804342	2	3	123	1	0	0	0	0	0	0	0	1	1246	233	9	4		4	B3GALNT1	3	160804342	Silent	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	29856845	160804342	37218088	52	31973											
SLC7A14	57709	genome.wustl.edu	37	chr3	170219048	170219048	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ccagccaatgaaaaatgccaCaaattccccaacagtgacat	17	6	5	13	0	0	2	0	2	0	0	1	2	1	2	5	0	3	0	5	0	5	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:170219048C>G	ENST00000231706.5	-	3	706	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	131					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)			AAAAATGCCACAAATTCCCCA	0.532																																																	0													73	72	72					3																	170219048		2203	4300	6503	SO:0001583	missense	0			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.391G>C	3.37:g.170219048C>G	ENSP00000231706:p.Val131Leu		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.V131L	ENST00000231706.5	37	c.391	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340496	0.60963	.	.	ENSG00000013293	ENST00000231706	D	0.90676	-2.71	5.46	4.56	0.56223	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	L	0.33189	0.99	0.58432	D	0.999999	P	0.52463	0.953	P	0.54759	0.76	D	0.86316	0.1689	10	0.11794	T	0.64	.	16.4516	0.83993	0.0:0.8685:0.1315:0.0	.	131	Q8TBB6	S7A14_HUMAN	L	131	ENSP00000231706:V131L	ENSP00000231706:V131L	V	-	1	0	SLC7A14	171701742	1.000000	0.71417	0.909000	0.35828	0.987000	0.75469	5.934000	0.70138	1.392000	0.46585	0.561000	0.74099	GTG	SLC7A14	-	pfam_AA-permease/SLC12A_dom	ENSG00000013293		0.532	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2		0	29	0	C	NM_020949		170219048	-1			no_errors	ENST00000231706	ensembl	human	known	74_37	missense	16.22	62	12	SNP	1.000	G	G	170219048	C	G	170219048	3	3	123	1	0	0	0	0	1	0	0	0	14741	478	17	5	1948	5	SLC7A14	3	170219048	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	9414706	170219048	27803382	53	31974											
YEATS2	55689	genome.wustl.edu	37	chr3	183476656	183476656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgcttatcaggaagtcCtacaaacaagatctccacgg	12	9	8	12	1	2	1	1	0	1	1	4	2	3	2	3	2	3	1	3	2	5	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:183476656C>T	ENST00000305135.5	+	13	1754	c.1559C>T	c.(1558-1560)cCt>cTt	p.P520L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	520					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)	p.P520H(1)		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)			TCAGGAAGTCCTACAAACAAG	0.383																																																	1	Substitution - Missense(1)	lung(1)											135	122	126					3																	183476656		1832	4080	5912	SO:0001583	missense	0			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.1559C>T	3.37:g.183476656C>T	ENSP00000306983:p.Pro520Leu		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.P520L	ENST00000305135.5	37	c.1559	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221984	0.79464	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.28666	1.6	5.22	5.22	0.72569	.	0.073825	0.56097	D	0.000036	T	0.26048	0.0635	L	0.27053	0.805	0.80722	D	1	P	0.43094	0.799	B	0.38378	0.272	T	0.09552	-1.0669	10	0.87932	D	0	-17.9355	18.812	0.92061	0.0:1.0:0.0:0.0	.	520	Q9ULM3	YETS2_HUMAN	L	520	ENSP00000306983:P520L	ENSP00000306983:P520L	P	+	2	0	YEATS2	184959350	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.278000	0.72614	2.449000	0.82847	0.585000	0.79938	CCT	YEATS2	-	NULL	ENSG00000163872		0.383	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2		0	17	0	C	NM_018023		183476656	1			no_errors	ENST00000305135	ensembl	human	known	74_37	missense	19.30	46	11	SNP	1.000	T	T	183476656	C	T	183476656	3	4	123	1	0	0	0	0	1	0	0	0	17521	681	24	3	1605	3	YEATS2	3	183476656	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	13257608	183476656	14545774	54	31975											
KIAA1530	57654	genome.wustl.edu	37	chr4	1369233	1369233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacgaggaggtgtcggaccCcacctctgcggctgctcagc	6	6	15	14	3	2	0	1	0	1	0	3	4	2	3	3	5	3	2	3	5	0	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:1369233C>G	ENST00000389851.4	+	9	1817	c.1370C>G	c.(1369-1371)cCc>cGc	p.P457R	UVSSA_ENST00000512728.1_Missense_Mutation_p.P8R|UVSSA_ENST00000507531.1_Missense_Mutation_p.P457R|UVSSA_ENST00000511216.1_Missense_Mutation_p.P457R|UVSSA_ENST00000511563.1_Missense_Mutation_p.P8R	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	457					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)										GTGTCGGACCCCACCTCTGCG	0.647																																																	0													120	101	108					4																	1369233		2203	4300	6503	SO:0001583	missense	0			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.1370C>G	4.37:g.1369233C>G	ENSP00000374501:p.Pro457Arg		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	pfam_DUF2043,superfamily_ENTH_VHS	p.P457R	ENST00000389851.4	37	c.1370	CCDS33938.1	4	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827728	0.50845	.	.	ENSG00000163945	ENST00000296312;ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.21;-0.21	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	M	0.76328	2.33	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	D	0.85634	0.1272	10	0.87932	D	0	.	11.3174	0.49401	0.0:1.0:0.0:0.0	.	457	Q2YD98	K1530_HUMAN	R	8;457;457;457;8;8	ENSP00000425130:P457R;ENSP00000374501:P457R;ENSP00000421741:P457R;ENSP00000423340:P8R;ENSP00000427701:P8R	ENSP00000296312:P8R	P	+	2	0	KIAA1530	1359233	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	4.770000	0.62309	2.106000	0.64143	0.655000	0.94253	CCC	UVSSA	-	NULL	ENSG00000163945		0.647	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVSSA	HGNC	protein_coding	OTTHUMT00000359480.1		0	76	0	C	NM_020894		1369233	1			no_errors	ENST00000389851	ensembl	human	known	74_37	missense	31.96	65	31	SNP	1.000	G	G	1369233	C	G	1369233	3	3	123	1	0	0	0	0	1	0	0	0	8268	623	22	5	1400	5	KIAA1530	4	1369233	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09		1369233	189785043	55	31976											
EVC	2121	genome.wustl.edu	37	chr4	5743442	5743442	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttcctttcttggcaataGatgtttattcagatttttaa	9	21	5	6	0	3	2	1	0	2	2	4	2	4	2	1	1	0	2	1	1	4	10			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:5743442G>A	ENST00000264956.6	+	6	886		c.e6-1		EVC_ENST00000509451.1_Splice_Site|EVC_ENST00000382674.2_Splice_Site	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome						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)				CTTGGCAATAGATGTTTATTC	0.353																																																	0			GRCh37	CS070372	EVC	S							52	54	53					4																	5743442		2203	4297	6500	SO:0001630	splice_region_variant	0			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.703-1G>A	4.37:g.5743442G>A				Splice_Site	SNP	-	e6-1	ENST00000264956.6	37	c.703-1	CCDS3383.1	4	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459411	0.63401	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9911	0.86354	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EVC	5794343	1.000000	0.71417	0.988000	0.46212	0.861000	0.49209	5.192000	0.65115	2.340000	0.79590	0.609000	0.83330	.	EVC	-	-	ENSG00000072840		0.353	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1		0	32	0	G		Intron	5743442	1			no_errors	ENST00000264956	ensembl	human	known	74_37	splice_site	44.00	14	11	SNP	1.000	A	A	5743442	G	A	5743442	5	1	123	1	0	0	0	0	0	0	1	0	5301	956	33	3	724	3	EVC	4	5743442	Splice_Site	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	4374209	5743442	185410834	56	31977											
ODAM	54959	genome.wustl.edu	37	chr4	71062448	71062448	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgccagcaatagcaatGaggttagtttaaataattaa	15	13	8	5	0	1	1	0	1	1	0	1	1	1	1	1	1	3	4	1	1	8	6			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:71062448G>T	ENST00000396094.2	+	2	139	c.91G>T	c.(91-93)Gag>Tag	p.E31*		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	31					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)		p.E31K(1)|p.E31*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAATAGCAATGAGGTTAGTTT	0.323																																																	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)											56	51	52					4																	71062448		1818	4080	5898	SO:0001587	stop_gained	0			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.91G>T	4.37:g.71062448G>T	ENSP00000379401:p.Glu31*		Q8WWE5|Q9NWZ9	Nonsense_Mutation	SNP	NULL	p.E31*	ENST00000396094.2	37	c.91	CCDS3536.2	4	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005196	0.74932	.	.	ENSG00000109205	ENST00000396094	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.0321	14.5147	0.67811	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	ENSP00000379401:E31X	E	+	1	0	ODAM	71097037	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	4.235000	0.58666	2.804000	0.96469	0.650000	0.86243	GAG	ODAM	-	NULL	ENSG00000109205		0.323	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODAM	HGNC	protein_coding	OTTHUMT00000251562.1		0	19	0	G	NM_017855		71062448	1			no_errors	ENST00000396094	ensembl	human	known	74_37	nonsense	18.18	17	4	SNP	1.000	T	T	71062448	G	T	71062448	4	4	123	1	0	0	0	0	0	1	0	0	10863	1291	45	3	97	3	ODAM	4	71062448	Nonsense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	65319006	71062448	120091828	57	31978											
WDFY3	23001	genome.wustl.edu	37	chr4	85594028	85594028	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgttgaatcttcaacaaTttcgaggcccatcttctgaa	10	14	7	10	1	4	2	1	2	3	0	5	3	4	2	1	1	1	2	1	1	4	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:85594028T>G	ENST00000295888.4	-	68	10981	c.10574A>C	c.(10573-10575)aAt>aCt	p.N3525T	WDFY3_ENST00000322366.6_Missense_Mutation_p.N3508T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3525	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)		TCTTCAACAATTTCGAGGCCC	0.453																																																	0													140	134	136					4																	85594028		2203	4300	6503	SO:0001583	missense	0			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.10574A>C	4.37:g.85594028T>G	ENSP00000295888:p.Asn3525Thr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N3525T	ENST00000295888.4	37	c.10574	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825289	0.71143	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64618	-0.11;-0.11	5.76	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	N	0.22421	0.69	0.47584	D	0.999467	B	0.23058	0.079	B	0.18871	0.023	T	0.45160	-0.9280	10	0.87932	D	0	.	12.2725	0.54714	0.1272:0.0:0.0:0.8727	.	3525	Q8IZQ1	WDFY3_HUMAN	T	3508;3525	ENSP00000318466:N3508T;ENSP00000295888:N3525T	ENSP00000295888:N3525T	N	-	2	0	WDFY3	85813052	1.000000	0.71417	0.755000	0.31263	0.988000	0.76386	5.604000	0.67626	0.987000	0.38709	0.533000	0.62120	AAT	WDFY3	-	NULL	ENSG00000163625		0.453	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2		0	49	0	T	NM_014991		85594028	-1			no_errors	ENST00000295888	ensembl	human	known	74_37	missense	40.00	27	18	SNP	0.991	G	G	85594028	T	G	85594028	3	3	123	1	0	0	0	0	1	0	0	0	17319	1493	52	4	10	4	WDFY3	4	85594028	Missense_Mutation	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	14531580	85594028	105560248	58	31979											
KLHL8	57563	genome.wustl.edu	37	chr4	88104481	88104481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	acattttagattttgcttgaCaatctgttcttttgccacaa	10	18	5	8	0	2	2	0	1	2	1	2	2	2	2	1	0	2	2	1	0	3	8			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:88104481C>T	ENST00000273963.5	-	4	1167	c.826G>A	c.(826-828)Gtc>Atc	p.V276I	KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000498875.2_Missense_Mutation_p.V200I|KLHL8_ENST00000512111.1_Missense_Mutation_p.V276I|KLHL8_ENST00000425278.2_Missense_Mutation_p.V93I	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	276					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)		TTTTGCTTGACAATCTGTTCT	0.373																																																	0													148	140	143					4																	88104481		2203	4300	6503	SO:0001583	missense	0			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.826G>A	4.37:g.88104481C>T	ENSP00000273963:p.Val276Ile		Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V276I	ENST00000273963.5	37	c.826	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	C	9.783	1.175862	0.21704	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000512111	T;T;T;T	0.78595	-0.94;-0.84;-1.19;-0.94	5.51	5.51	0.81932	.	0.058794	0.64402	D	0.000002	T	0.48943	0.1528	N	0.02142	-0.665	0.80722	D	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.54173	-0.8333	10	0.02654	T	1	.	12.7182	0.57127	0.0:0.9249:0.0:0.0751	.	93;200;276	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	I	276;200;93;276	ENSP00000273963:V276I;ENSP00000426451:V200I;ENSP00000408854:V93I;ENSP00000424131:V276I	ENSP00000273963:V276I	V	-	1	0	KLHL8	88323505	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.418000	0.59828	2.579000	0.87056	0.591000	0.81541	GTC	KLHL8	-	pirsf_Kelch-like_gigaxonin	ENSG00000145332		0.373	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1		0	41	0	C			88104481	-1			no_errors	ENST00000273963	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	T	T	88104481	C	T	88104481	3	4	123	1	0	0	0	0	1	0	0	0	8422	478	17	3	1064	3	KLHL8	4	88104481	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	2510453	88104481	103049795	59	31980											
PRSS12	8492	genome.wustl.edu	37	chr4	119220048	119220048	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatccacatggatgggtccTtttccttctccaaagtaagc	9	14	7	11	0	1	0	0	0	1	0	5	1	4	1	4	2	1	1	4	2	3	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:119220048T>C	ENST00000296498.3	-	9	1959	c.1677A>G	c.(1675-1677)aaA>aaG	p.K559K	PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	559	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.K559K(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GGATGGGTCCTTTTCCTTCTC	0.448																																																	1	Substitution - coding silent(1)	lung(1)											133	121	125					4																	119220048		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1677A>G	4.37:g.119220048T>C			Q9UP16	Silent	SNP	pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A	p.K559	ENST00000296498.3	37	c.1677	CCDS3709.1	4																																																																																			PRSS12	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000164099		0.448	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2		0	55	0	T			119220048	-1			no_errors	ENST00000296498	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.988	C	C	119220048	T	C	119220048	2	2	123	1	0	0	0	0	0	0	0	1	12657	1606	56	4		4	PRSS12	4	119220048	Silent	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	31115567	119220048	71934228	60	31981											
KIAA1430	57587	genome.wustl.edu	37	chr4	186111979	186111979	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatcatcttcaccttctttTacaattttgggaattctatt	10	20	3	8	0	5	0	2	0	3	0	5	1	5	1	1	1	1	0	1	1	5	10			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:186111979T>C	ENST00000458385.2	-	2	491	c.372A>G	c.(370-372)gtA>gtG	p.V124V	KIAA1430_ENST00000514798.1_Silent_p.V124V|KIAA1430_ENST00000296775.6_Silent_p.V124V	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		124										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CACCTTCTTTTACAATTTTGG	0.383																																																	0													70	65	66					4																	186111979		1884	4097	5981	SO:0001819	synonymous_variant	0																														ENST00000458385.2:c.372A>G	4.37:g.186111979T>C			B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	NULL	p.V124	ENST00000458385.2	37	c.372	CCDS47168.1	4																																																																																			KIAA1430	-	NULL	ENSG00000164323		0.383	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2		0	67	0	T			186111979	-1			no_errors	ENST00000296775	ensembl	human	known	74_37	silent	58.46	27	38	SNP	0.001	C	C	186111979	T	C	186111979	2	2	123	1	0	0	0	0	0	0	0	1	8259	1741	61	4		4	KIAA1430	4	186111979	Silent	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	66891931	186111979	5042297	61	31982											
NKD2	85409	genome.wustl.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-																															agcaccaccaccaccacgagCaccaccaccaccaccaccac																								rs3840989		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	CAC	CAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																																	0																																										SO:0001651	inframe_deletion	0			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del		Q96EK8|Q9BSN0	In_Frame_Del	DEL	pfscan_EF_hand_dom	p.H442in_frame_del	ENST00000296849.5	37	c.1315_1317	CCDS3859.1	5																																																																																			NKD2	-	NULL	ENSG00000145506		0.69	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2		0	24	0	CAC	NM_033120		1038449	1			no_errors	ENST00000296849	ensembl	human	known	74_37	in_frame_del	6.94	67	5	DEL	1.000:1.000:1.000	0	-	1038449	CAC	-	1038447	7	5	123	1	0	1	0	1	0	0	0	0	10481	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-LN-A5U7-01A-11D-A31U-09		1038447	179876813	62	31983											
PRDM9	56979	genome.wustl.edu	37	chr5	23527075	23527075	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtcagtcctcctcactcaCcagaggagacacacagggga	12	5	10	14	0	3	2	3	0	0	2	5	4	5	3	3	3	0	0	3	3	0	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:23527075C>G	ENST00000296682.3	+	11	2060	c.1878C>G	c.(1876-1878)caC>caG	p.H626Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	626					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						TCCTCACTCACCAGAGGAGAC	0.612										HNSCC(3;0.000094)																																							0													13	14	14					5																	23527075		1547	3418	4965	SO:0001583	missense	0			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.1878C>G	5.37:g.23527075C>G	ENSP00000296682:p.His626Gln		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.H626Q	ENST00000296682.3	37	c.1878	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	C	9.045	0.990691	0.18966	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	D	0.86865	-2.18	2.02	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38548	N	0.001651	D	0.94095	0.8107	H	0.96111	3.77	0.27943	N	0.93745	D	0.89917	1.0	D	0.97110	1.0	D	0.86789	0.1984	10	0.87932	D	0	-9.227	6.7229	0.23340	0.0:0.8369:0.0:0.1631	.	626	Q9NQV7	PRDM9_HUMAN	Q	626;392	ENSP00000296682:H626Q	ENSP00000253473:H392Q	H	+	3	2	PRDM9	23562832	0.244000	0.23889	0.937000	0.37676	0.008000	0.06430	0.664000	0.25068	0.399000	0.25367	-0.266000	0.10368	CAC	PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.612	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1		0	75	0	C	NM_020227		23527075	1			no_errors	ENST00000296682	ensembl	human	known	74_37	missense	45.76	32	27	SNP	1.000	G	G	23527075	C	G	23527075	3	3	123	1	0	0	0	0	1	0	0	0	12505	506	18	5	1916	5	PRDM9	5	23527075	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	22488628	23527075	157388185	63	31984											
GHR	2690	genome.wustl.edu	37	chr5	42719319	42719319	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacatttacatcaccacagaAagccttaccactgctgctgg	12	9	7	13	0	1	1	1	0	0	1	1	2	1	1	3	1	5	2	3	1	3	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:42719319A>G	ENST00000230882.4	+	10	1900	c.1710A>G	c.(1708-1710)gaA>gaG	p.E570E	GHR_ENST00000357703.3_Silent_p.E548E|GHR_ENST00000537449.1_Silent_p.E383E	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	570					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCACCACAGAAAGCCTTACCA	0.493																																																	0													113	93	100					5																	42719319		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1710A>G	5.37:g.42719319A>G			Q9HCX2	Silent	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E570	ENST00000230882.4	37	c.1710	CCDS3940.1	5																																																																																			GHR	-	NULL	ENSG00000112964		0.493	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2		0	44	0	A	NM_000163		42719319	1			no_errors	ENST00000230882	ensembl	human	known	74_37	silent	7.32	38	3	SNP	1.000	G	G	42719319	A	G	42719319	2	3	123	1	0	0	0	0	0	0	0	1	6397	11	1	4		4	GHR	5	42719319	Silent	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	19192244	42719319	138195941	64	31985											
PDE8B	8622	genome.wustl.edu	37	chr5	76633130	76633130	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggggaagttcgctcccagTtcaaattacggtatgtagca	11	11	11	8	2	1	0	1	0	0	0	3	1	2	1	1	3	2	6	1	3	5	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:76633130T>A	ENST00000264917.5	+	6	832	c.787T>A	c.(787-789)Ttc>Atc	p.F263I	PDE8B_ENST00000333194.4_Missense_Mutation_p.F263I|PDE8B_ENST00000342343.4_Missense_Mutation_p.F243I|PDE8B_ENST00000340978.3_Missense_Mutation_p.F263I|PDE8B_ENST00000346042.3_Missense_Mutation_p.F263I	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	263					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)	TCGCTCCCAGTTCAAATTACG	0.358																																																	0													57	56	56					5																	76633130		2203	4300	6503	SO:0001583	missense	0			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.787T>A	5.37:g.76633130T>A	ENSP00000264917:p.Phe263Ile		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.F263I	ENST00000264917.5	37	c.787	CCDS4037.1	5	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475249	0.43942	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	T;T;T;T;T;T	0.77358	-0.52;-0.52;-0.57;-0.56;-0.47;-1.09	5.95	5.95	0.96441	.	0.046665	0.85682	D	0.000000	T	0.70675	0.3251	L	0.45228	1.405	0.80722	D	1	B;B;P;B;B	0.36789	0.365;0.165;0.57;0.081;0.103	B;B;B;B;B	0.36186	0.143;0.083;0.219;0.083;0.038	T	0.67983	-0.5529	10	0.19147	T	0.46	.	15.4063	0.74881	0.0:0.0:0.0:1.0	.	263;263;263;243;263	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	I	263;263;263;243;263;25	ENSP00000345446:F263I;ENSP00000330428:F263I;ENSP00000264917:F263I;ENSP00000345646:F243I;ENSP00000331336:F263I;ENSP00000422861:F25I	ENSP00000264917:F263I	F	+	1	0	PDE8B	76668886	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.367000	0.73099	2.279000	0.76181	0.533000	0.62120	TTC	PDE8B	-	NULL	ENSG00000113231		0.358	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3		0	40	0	T	NM_003719		76633130	1			no_errors	ENST00000264917	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A	A	76633130	T	A	76633130	3	1	123	1	0	0	0	0	1	0	0	0	11693	1725	60	5	809	5	PDE8B	5	76633130	Missense_Mutation	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	33913811	76633130	104282130	65	31986											
POLR3G	10622	genome.wustl.edu	37	chr5	89781458	89781458	+	Missense_Mutation	SNP	A	A	G	1	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	tgttggatttagcaaaggtgAaaagttacctgatgtagtgt	12	14	12	3	0	0	2	0	2	0	0	0	3	0	3	1	2	2	4	1	2	6	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:89781458A>G	ENST00000399107.1	+	2	274	c.74A>G	c.(73-75)gAa>gGa	p.E25G	POLR3G_ENST00000504930.1_Missense_Mutation_p.E25G|POLR3G_ENST00000514483.1_Missense_Mutation_p.E25G	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	25					cell proliferation (GO:0008283)|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)|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)	DNA-directed RNA polymerase activity (GO:0003899)			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		AGCAAAGGTGAAAAGTTACCT	0.383																																																	0													119	106	110					5																	89781458		1856	4094	5950	SO:0001583	missense	0			U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"RNA polymerase subunits"	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.74A>G	5.37:g.89781458A>G	ENSP00000382058:p.Glu25Gly		A8MTH0	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc31	p.E25G	ENST00000399107.1	37	c.74	CCDS43337.1	5	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252859	0.80135	.	.	ENSG00000113356	ENST00000512239;ENST00000505345;ENST00000503373;ENST00000503973;ENST00000399107;ENST00000504930;ENST00000514483	.	.	.	5.41	5.41	0.78517	.	0.378246	0.34291	N	0.004099	T	0.74680	0.3748	M	0.84683	2.71	0.34785	D	0.735135	D	0.61080	0.989	P	0.62298	0.9	D	0.84507	0.0620	9	0.72032	D	0.01	-33.3618	11.2786	0.49181	0.8476:0.1524:0.0:0.0	.	25	O15318	RPC7_HUMAN	G	25	.	ENSP00000382058:E25G	E	+	2	0	POLR3G	89817214	1.000000	0.71417	0.985000	0.45067	0.878000	0.50629	4.449000	0.60034	2.178000	0.69098	0.460000	0.39030	GAA	POLR3G	-	pfam_RNA_pol_III_Rpc31	ENSG00000113356		0.383	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3G	HGNC	protein_coding	OTTHUMT00000370462.1		0	76	0	A	NM_006467		89781458	1			no_errors	ENST00000399107	ensembl	human	known	74_37	missense	30.43	48	21	SNP	0.999	G	G	89781458	A	G	89781458	3	3	123	1	0	0	0	0	1	0	0	0	12273	246	9	4	76	4	POLR3G	5	89781458	Missense_Mutation	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	13148328	89781458	91133802	66	31987											
ERAP1	51752	genome.wustl.edu	37	chr5	96139172	96139172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaagtctccgaaagattgCcagcatagtgaatgacaact	15	8	10	8	1	1	3	0	2	1	1	2	5	1	4	2	1	3	1	2	1	5	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:96139172C>G	ENST00000443439.2	-	2	524	c.458G>C	c.(457-459)gGc>gCc	p.G153A	ERAP1_ENST00000296754.3_Missense_Mutation_p.G153A|CTD-2260A17.3_ENST00000606346.1_RNA|CTD-2260A17.3_ENST00000606656.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	153					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)		CGAAAGATTGCCAGCATAGTG	0.488																																																	0													76	81	79					5																	96139172		2203	4300	6503	SO:0001583	missense	0			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.458G>C	5.37:g.96139172C>G	ENSP00000406304:p.Gly153Ala		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G153A	ENST00000443439.2	37	c.458	CCDS47250.1	5	.	.	.	.	.	.	.	.	.	.	C	3.629	-0.075940	0.07184	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.03242	4.0;4.0	5.51	3.57	0.40892	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.213428	0.47455	N	0.000227	T	0.02494	0.0076	N	0.13003	0.285	0.27777	N	0.943295	B;B	0.09022	0.002;0.001	B;B	0.17722	0.019;0.002	T	0.40813	-0.9543	10	0.02654	T	1	.	15.2495	0.73532	0.0:0.5482:0.4518:0.0	.	153;153	Q9NZ08;Q9NZ08-2	ERAP1_HUMAN;.	A	153	ENSP00000296754:G153A;ENSP00000406304:G153A	ENSP00000296754:G153A	G	-	2	0	ERAP1	96164928	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	2.764000	0.47613	1.282000	0.44496	0.561000	0.74099	GGC	ERAP1	-	pfam_Peptidase_M1_N	ENSG00000164307		0.488	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000370699.1		0	29	0	C	NM_016442		96139172	-1			no_errors	ENST00000296754	ensembl	human	known	74_37	missense	45.45	30	25	SNP	1.000	G	G	96139172	C	G	96139172	3	3	123	1	0	0	0	0	1	0	0	0	5219	739	26	5	2472	5	ERAP1	5	96139172	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	6357714	96139172	84776088	67	31988											
PJA2	9867	genome.wustl.edu	37	chr5	108714946	108714946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaatcaacttgatccaaaGgactggaaccttcataaaaa	19	8	6	8	0	2	2	2	1	0	1	3	4	3	4	2	2	2	0	2	2	8	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:108714946G>C	ENST00000361189.2	-	4	481	c.242C>G	c.(241-243)cCt>cGt	p.P81R	PJA2_ENST00000361557.3_Missense_Mutation_p.P81R|PJA2_ENST00000511624.1_5'UTR	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	81					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)		TTGATCCAAAGGACTGGAACC	0.303																																																	0													33	35	34					5																	108714946		2202	4300	6502	SO:0001583	missense	0			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.242C>G	5.37:g.108714946G>C	ENSP00000354775:p.Pro81Arg		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P81R	ENST00000361189.2	37	c.242	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866576	0.51588	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.11169	2.8;2.8	5.5	4.62	0.57501	.	0.239937	0.36665	N	0.002476	T	0.22513	0.0543	L	0.55481	1.735	0.29849	N	0.828556	D	0.56035	0.974	P	0.55667	0.781	T	0.03503	-1.1030	10	0.87932	D	0	-0.6635	13.9301	0.63989	0.0:0.0:0.8478:0.1522	.	81	O43164	PJA2_HUMAN	R	81	ENSP00000354775:P81R;ENSP00000355284:P81R	ENSP00000354775:P81R	P	-	2	0	PJA2	108742845	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	3.654000	0.54453	1.290000	0.44636	0.650000	0.86243	CCT	PJA2	-	NULL	ENSG00000198961		0.303	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1		0	28	0	G	NM_014819		108714946	-1			no_errors	ENST00000361189	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.998	C	C	108714946	G	C	108714946	3	2	123	1	0	0	0	0	1	0	0	0	12001	1000	35	5	1912	5	PJA2	5	108714946	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	12575774	108714946	72200314	68	31989											
PCDHB2	56133	genome.wustl.edu	37	chr5	140476237	140476237	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctgttcggcgtgtgggcGcacaatggcgaggtgcgcac	5	7	19	10	5	0	0	0	0	0	0	1	1	0	0	0	5	1	4	0	5	1	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:140476237G>A	ENST00000194155.4	+	1	2011	c.1863G>A	c.(1861-1863)gcG>gcA	p.A621A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	621	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(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)			GCGTGTGGGCGCACAATGGCG	0.692																																																	0													30	32	31					5																	140476237		2143	4178	6321	SO:0001819	synonymous_variant	0			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.1863G>A	5.37:g.140476237G>A			Q4KMU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A621	ENST00000194155.4	37	c.1863	CCDS4244.1	5																																																																																			PCDHB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000112852		0.692	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2		0	101	0	G	NM_018936		140476237	1			no_errors	ENST00000194155	ensembl	human	known	74_37	silent	54.78	52	63	SNP	1.000	A	A	140476237	G	A	140476237	2	1	123	1	0	0	0	0	0	0	0	1	11581	1074	38	1		1	PCDHB2	5	140476237	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	31761291	140476237	40439023	69	31990											
SLC36A3	285641	genome.wustl.edu	37	chr5	150656993	150656993	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttggccatggaatggctGatgggttggggcaactcata	9	10	16	6	0	1	1	1	1	0	0	1	3	1	2	1	6	1	4	1	6	3	3	rs551325908		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:150656993G>T	ENST00000335230.3	-	10	1785	c.1374C>A	c.(1372-1374)atC>atA	p.I458I	SLC36A3_ENST00000377713.3_Silent_p.I499I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	458						integral component of membrane (GO:0016021)		p.I458I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAATGGCTGATGGGTTGGG	0.478																																																	2	Substitution - coding silent(2)	lung(2)											134	130	131					5																	150656993		2203	4300	6503	SO:0001819	synonymous_variant	0			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1374C>A	5.37:g.150656993G>T			Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	pfam_AA_transpt_TM	p.I499	ENST00000335230.3	37	c.1497	CCDS4314.1	5																																																																																			SLC36A3	-	NULL	ENSG00000186334		0.478	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A3	HGNC	protein_coding	OTTHUMT00000252436.1		0	53	0	G	NM_181774		150656993	-1			no_errors	ENST00000377713	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.000	T	T	150656993	G	T	150656993	2	4	123	1	0	0	0	0	0	0	0	1	14640	1280	45	3		3	SLC36A3	5	150656993	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	10180756	150656993	30258267	70	31991											
C5orf54	63920	genome.wustl.edu	37	chr5	159821568	159821568	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcaaagaaagcctgaaaTaggcgatgatttggagctct	13	11	10	7	1	3	3	1	2	2	1	3	5	3	4	1	2	2	1	1	2	4	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:159821568T>C	ENST00000408953.3	-	2	1437	c.930A>G	c.(928-930)ctA>ctG	p.L310L	C5orf54_ENST00000523213.1_Silent_p.L310L	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						aagcctgaaataggcgatgat	0.403																																																	0													80	81	80					5																	159821568		2203	4299	6502	SO:0001819	synonymous_variant	0																														ENST00000408953.3:c.930A>G	5.37:g.159821568T>C				Silent	SNP	superfamily_RNaseH-like_dom	p.L310	ENST00000408953.3	37	c.930	CCDS34283.1	5																																																																																			C5orf54	-	superfamily_RNaseH-like_dom	ENSG00000221886		0.403	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1		0	34	0	T			159821568	-1			no_errors	ENST00000408953	ensembl	human	known	74_37	silent	74.07	7	20	SNP	0.969	C	C	159821568	T	C	159821568	2	2	123	1	0	0	0	0	0	0	0	1	2317	1393	49	4		4	C5orf54	5	159821568	Silent	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	9164575	159821568	21093692	71	31992											
ZNF454	285676	genome.wustl.edu	37	chr5	178373440	178373440	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccccgcccagagggccctGtacagggacgtgatgctgga	8	5	15	13	2	0	2	0	1	0	1	0	4	0	4	4	3	3	2	4	3	1	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:178373440G>C	ENST00000320129.3	+	3	417	c.114G>C	c.(112-114)ctG>ctC	p.L38L	ZNF454_ENST00000519564.1_Silent_p.L38L	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	38	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)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AGAGGGCCCTGTACAGGGACG	0.552																																																	0													101	100	100					5																	178373440		2203	4300	6503	SO:0001819	synonymous_variant	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.114G>C	5.37:g.178373440G>C			Q2M1P2|Q2M323	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L38	ENST00000320129.3	37	c.114	CCDS4441.1	5																																																																																			ZNF454	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000178187		0.552	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2		0	62	0	G	XM_209718		178373440	1			no_errors	ENST00000320129	ensembl	human	known	74_37	silent	36.67	38	22	SNP	0.885	C	C	178373440	G	C	178373440	2	2	123	1	0	0	0	0	0	0	0	1	17971	1364	48	5		5	ZNF454	5	178373440	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	18551872	178373440	2541820	72	31993											
TDP2	51567	genome.wustl.edu	37	chr6	24651204	24651204	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattccaagattagagttcaTttgtgtatcccatgtatact	11	17	6	7	0	1	2	1	0	0	2	3	2	3	2	2	0	1	3	2	0	6	8			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:24651204T>C	ENST00000378198.4	-	7	1071	c.901A>G	c.(901-903)Atg>Gtg	p.M301V	TDP2_ENST00000545995.1_Missense_Mutation_p.M331V|TDP2_ENST00000341060.3_Missense_Mutation_p.M243V			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	301					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TTAGAGTTCATTTGTGTATCC	0.403								Direct reversal of damage																																									0													112	115	114					6																	24651204		2203	4300	6503	SO:0001583	missense	0			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"TRAF and TNF receptor associated protein"	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.901A>G	6.37:g.24651204T>C	ENSP00000367440:p.Met301Val		B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like	p.M331V	ENST00000378198.4	37	c.991	CCDS4557.1	6	.	.	.	.	.	.	.	.	.	.	T	6.388	0.439785	0.12104	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060	T;T;T	0.79845	-1.31;-1.31;-1.31	6.07	-0.332	0.12675	Endonuclease/exonuclease/phosphatase (2);	0.573867	0.20304	N	0.094976	T	0.26738	0.0654	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39941	-0.9589	10	0.25106	T	0.35	-19.9468	4.6745	0.12705	0.1402:0.5116:0.1285:0.2197	.	301	O95551	TYDP2_HUMAN	V	301;331;223;243	ENSP00000367440:M301V;ENSP00000437637:M331V;ENSP00000345345:M243V	ENSP00000345345:M243V	M	-	1	0	TDP2	24759183	0.002000	0.14202	0.138000	0.22173	0.983000	0.72400	0.038000	0.13862	-0.026000	0.13895	0.533000	0.62120	ATG	TDP2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000111802		0.403	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TDP2	HGNC	protein_coding	OTTHUMT00000040012.1		0	20	0	T			24651204	-1			no_errors	ENST00000545995	ensembl	human	known	74_37	missense	54.55	10	12	SNP	0.025	C	C	24651204	T	C	24651204	3	2	123	1	0	0	0	0	1	0	0	0	15776	1493	52	4	191	4	TDP2	6	24651204	Missense_Mutation	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09		24651204	146463863	73	31994											
FAM65B	9750	genome.wustl.edu	37	chr6	24865603	24865603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgctggcaggggatgttgCgaaggcttgcttcattttgc	5	15	14	7	1	1	0	1	0	0	0	1	2	1	1	0	4	4	5	0	4	1	6			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:24865603C>T	ENST00000259698.4	-	7	665	c.490G>A	c.(490-492)Gca>Aca	p.A164T	FAM65B_ENST00000540914.1_Missense_Mutation_p.A164T|FAM65B_ENST00000510784.2_Missense_Mutation_p.A198T|FAM65B_ENST00000538035.1_Missense_Mutation_p.A193T|FAM65B_ENST00000378023.4_Missense_Mutation_p.A164T	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	164					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.A164T(2)|p.A164P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GGGGATGTTGCGAAGGCTTGC	0.493																																																	4	Substitution - Missense(4)	lung(2)|endometrium(2)											82	79	80					6																	24865603		1924	4134	6058	SO:0001583	missense	0			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.490G>A	6.37:g.24865603C>T	ENSP00000259698:p.Ala164Thr		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A164T	ENST00000259698.4	37	c.490	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281144	0.40394	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42	5.72	4.86	0.63082	.	0.098854	0.64402	D	0.000001	T	0.00637	0.0021	N	0.04636	-0.2	0.44908	D	0.997928	B;D;B;P	0.54601	0.276;0.967;0.103;0.942	B;P;B;P	0.46629	0.061;0.462;0.034;0.522	T	0.59359	-0.7469	10	0.06494	T	0.89	-13.41	14.9184	0.70815	0.0:0.9314:0.0:0.0686	.	198;193;164;164	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	T	164;193;164;164;198	ENSP00000259698:A164T;ENSP00000441138:A193T;ENSP00000367262:A164T;ENSP00000438425:A164T;ENSP00000441305:A198T	ENSP00000259698:A164T	A	-	1	0	FAM65B	24973582	0.988000	0.35896	0.258000	0.24420	0.325000	0.28411	2.268000	0.43338	1.413000	0.46997	0.655000	0.94253	GCA	FAM65B	-	NULL	ENSG00000111913		0.493	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2		0	44	0	C			24865603	-1			no_errors	ENST00000259698	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.993	T	T	24865603	C	T	24865603	3	4	123	1	0	0	0	0	1	0	0	0	5622	768	27	1	2794	1	FAM65B	6	24865603	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	214399	24865603	146249464	74	31995											
HIST1H2AC	8334	genome.wustl.edu	37	chr6	26124702	26124702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaagactcgcatcatccCgcgccacttgcagctggcca	10	6	9	16	3	1	2	1	0	0	2	3	2	2	2	3	1	2	3	3	1	2	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:26124702C>A	ENST00000602637.1	+	1	272	c.242C>A	c.(241-243)cCg>cAg	p.P81Q	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.P81Q|HIST1H2BC_ENST00000396984.1_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	81						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CGCATCATCCCGCGCCACTTG	0.642																																																	0													104	101	102					6																	26124702		2203	4300	6503	SO:0001583	missense	0			Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"Histones / Replication-dependent"	4733	protein-coding gene	gene with protein product		602794	"H2A histone family, member L", "histone 1, H2ac"	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.242C>A	6.37:g.26124702C>A	ENSP00000473534:p.Pro81Gln		B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.P81Q	ENST00000602637.1	37	c.242	CCDS4585.1	6	.	.	.	.	.	.	.	.	.	.	.	23.7	4.443515	0.83993	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.71579	-0.58;-0.58	5.5	5.5	0.81552	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.44285	D	0.000479	D	0.90229	0.6945	H	0.98370	4.215	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.93444	0.6796	10	0.87932	D	0	.	18.7477	0.91800	0.0:1.0:0.0:0.0	.	81	Q93077	H2A1C_HUMAN	Q	81	ENSP00000367022:P81Q;ENSP00000321389:P81Q	ENSP00000321389:P81Q	P	+	2	0	HIST1H2AC	26232681	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.726000	0.84824	2.750000	0.94351	0.467000	0.42956	CCG	HIST1H2AC	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000180573		0.642	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AC	HGNC	protein_coding	OTTHUMT00000468023.1		0	85	0	C	NM_003512		26124702	1			no_errors	ENST00000314088	ensembl	human	known	74_37	missense	31.94	49	23	SNP	1.000	A	A	26124702	C	A	26124702	3	1	123	1	0	0	0	0	1	0	0	0	7157	652	23	2	244	2	HIST1H2AC	6	26124702	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	1259099	26124702	144990365	75	31996											
HIST1H2BH	8345	genome.wustl.edu	37	chr6	26252158	26252158	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gttcgaccatcacctccaggGagatccagacagccgtgcgc	9	6	11	15	3	1	2	1	0	0	2	4	4	3	2	5	1	2	1	5	1	0	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:26252158G>C	ENST00000356350.2	+	1	280	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	94					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CACCTCCAGGGAGATCCAGAC	0.592																																																	0													80	85	84					6																	26252158		2203	4300	6503	SO:0001583	missense	0			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"Histones / Replication-dependent"	4755	protein-coding gene	gene with protein product		602806	"H2B histone family, member J", "histone 1, H2bh"	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.280G>C	6.37:g.26252158G>C	ENSP00000348706:p.Glu94Gln		B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E94Q	ENST00000356350.2	37	c.280	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	19.01	3.744654	0.69418	.	.	ENSG00000197459	ENST00000356350	T	0.50001	0.76	4.55	4.55	0.56014	Histone-fold (2);Histone core (1);	0.000000	0.40222	U	0.001155	T	0.80407	0.4617	H	0.99545	4.62	0.39487	D	0.967986	D	0.76494	0.999	D	0.72625	0.978	D	0.89469	0.3742	10	0.87932	D	0	.	17.152	0.86780	0.0:0.0:1.0:0.0	.	94	Q93079	H2B1H_HUMAN	Q	94	ENSP00000348706:E94Q	ENSP00000348706:E94Q	E	+	1	0	HIST1H2BH	26360137	1.000000	0.71417	0.994000	0.49952	0.086000	0.17979	9.490000	0.97952	2.455000	0.83008	0.591000	0.81541	GAG	HIST1H2BH	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000197459		0.592	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1		0	65	0	G	NM_003524		26252158	1			no_errors	ENST00000356350	ensembl	human	known	74_37	missense	26.92	38	14	SNP	1.000	C	C	26252158	G	C	26252158	3	2	123	1	0	0	0	0	1	0	0	0	7174	1175	41	5	282	5	HIST1H2BH	6	26252158	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	127456	26252158	144862909	76	31997											
C4A	721	genome.wustl.edu	37	chr6	31996297	31996297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcggcttggttgtcacgggGcagcagcacctggtgagctt	5	10	16	10	2	1	1	1	1	0	0	1	1	1	1	1	5	4	6	1	5	0	3	rs2258218	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:31996297G>A	ENST00000435363.2	+	25	3302	c.3218G>A	c.(3217-3219)gGc>gAc	p.G1073D	C4B_ENST00000425700.2_Missense_Mutation_p.G1073D	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1073			G -> D (in allotype C4B2 and allotype C4B5-Rg1). {ECO:0000269|PubMed:6546707, ECO:0000269|Ref.3}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTGTCACGGGGCAGCAGCACC	0.617																																																	0													80	64	69					6																	31996297		2166	4204	6370	SO:0001583	missense	0			AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"Blood group antigens", "Complement system"	1324	protein-coding gene	gene with protein product		120820	"complement component 4B"				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3218G>A	6.37:g.31996297G>A	ENSP00000415941:p.Gly1073Asp		A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom	p.G1073D	ENST00000435363.2	37	c.3218	CCDS47405.1	6	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.023980	0.00414	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.12774	2.65;2.65	4.65	2.05	0.26809	.	.	.	.	.	T	0.00695	0.0023	N	0.00268	-1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45920	-0.9228	9	0.16896	T	0.51	.	3.9306	0.09283	0.6287:0.1801:0.1913:0.0	.	1073;1073	F5GXS0;Q6U2E9	.;.	D	1073	ENSP00000415941:G1073D;ENSP00000391933:G1073D	ENSP00000391933:G1073D	G	+	2	0	C4B	32104275	0.000000	0.05858	0.241000	0.24154	0.036000	0.12997	-0.332000	0.07904	0.169000	0.19679	-1.524000	0.00929	GGC	C4B	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000224389		0.617	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4B	HGNC	protein_coding	OTTHUMT00000076368.5		0	56	0	G	NM_001002029		31996297	1			no_errors	ENST00000435363	ensembl	human	known	74_37	missense	42.86	4	3	SNP	0.060	A	A	31996297	G	A	31996297	3	1	123	1	0	0	0	0	1	0	0	0	2254	1203	42	3	8378	3	C4A	6	31996297	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	5744139	31996297	139118770	77	31998											
TRERF1	55809	genome.wustl.edu	37	chr6	42236020	42236020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ccgggtcagatctgagctcgCtgggtctcccattcctgtgt	4	12	12	13	2	3	2	1	1	2	1	6	2	4	2	3	2	1	2	3	2	0	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:42236020C>G	ENST00000372922.4	-	5	1871	c.1309G>C	c.(1309-1311)Gcg>Ccg	p.A437P	TRERF1_ENST00000340840.2_Missense_Mutation_p.A437P|TRERF1_ENST00000541110.1_Missense_Mutation_p.A437P|TRERF1_ENST00000354325.2_Missense_Mutation_p.A437P|TRERF1_ENST00000372917.4_Missense_Mutation_p.A437P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	437					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)			TCTGAGCTCGCTGGGTCTCCC	0.627																																																	0													49	53	51					6																	42236020		2203	4300	6503	SO:0001583	missense	0			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.1309G>C	6.37:g.42236020C>G	ENSP00000362013:p.Ala437Pro		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.A437P	ENST00000372922.4	37	c.1309	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	C	9.955	1.221216	0.22457	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.13420	2.82;2.59;2.81;2.59;2.6	5.79	1.9	0.25705	.	0.497690	0.18421	N	0.141757	T	0.02649	0.0080	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.002;0.002;0.004;0.004	T	0.41395	-0.9511	10	0.44086	T	0.13	-1.2267	6.5768	0.22571	0.0:0.6572:0.1338:0.209	.	437;437;437;276;276	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	P	437	ENSP00000439689:A437P;ENSP00000362008:A437P;ENSP00000362013:A437P;ENSP00000339438:A437P;ENSP00000346285:A437P	ENSP00000339438:A437P	A	-	1	0	TRERF1	42343998	0.000000	0.05858	0.100000	0.21137	0.278000	0.26855	-1.126000	0.03254	0.743000	0.32719	0.561000	0.74099	GCG	TRERF1	-	NULL	ENSG00000124496		0.627	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2		0	21	0	C	NM_033502		42236020	-1			no_errors	ENST00000541110	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.002	G	G	42236020	C	G	42236020	3	3	123	1	0	0	0	0	1	0	0	0	16523	797	28	5	2349	5	TRERF1	6	42236020	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	10239723	42236020	128879047	78	31999											
DST	667	genome.wustl.edu	37	chr6	56394339	56394339	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacttcattcagccagttCatcagttcaacttcatcttc	9	15	4	13	0	7	0	6	0	1	0	8	0	7	0	1	0	3	3	1	0	1	6			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:56394339C>A	ENST00000244364.6	-	47	9840	c.9633G>T	c.(9631-9633)atG>atT	p.M3211I	DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Missense_Mutation_p.M5625I|DST_ENST00000421834.2_Missense_Mutation_p.M3537I|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Missense_Mutation_p.M5299I|DST_ENST00000370754.5_Missense_Mutation_p.M5803I|DST_ENST00000312431.6_3'UTR	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5623					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)			TCAGCCAGTTCATCAGTTCAA	0.458																																																	0													137	129	132					6																	56394339		1955	4166	6121	SO:0001583	missense	0			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	ENST00000244364.6:c.9633G>T	6.37:g.56394339C>A	ENSP00000244364:p.Met3211Ile		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.M5803I	ENST00000244364.6	37	c.17409	CCDS47443.1	6	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988678	0.35131	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842	T;T;T;T;T	0.61627	1.4;0.11;0.09;1.4;1.4	5.9	4.92	0.64577	.	0.102432	0.42548	D	0.000695	T	0.37705	0.1013	N	0.17474	0.49	0.25454	N	0.987974	P;B;B;B;B	0.41159	0.74;0.009;0.007;0.002;0.01	P;B;B;B;B	0.48425	0.577;0.015;0.01;0.002;0.021	T	0.28870	-1.0030	9	0.32370	T	0.25	.	13.5289	0.61611	0.0:0.8985:0.0:0.1015	.	3537;5625;5803;5623;3211	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	I	3211;5803;5625;3537;5299	ENSP00000244364:M3211I;ENSP00000359790:M5803I;ENSP00000359805:M5625I;ENSP00000400883:M3537I;ENSP00000393645:M5299I	ENSP00000244364:M3211I	M	-	3	0	DST	56502298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.969000	0.49232	2.802000	0.96397	0.650000	0.86243	ATG	DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.458	DST-005	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041022.4		0	22	0	C	NM_001723		56394339	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	56394339	C	A	56394339	3	1	123	1	0	0	0	0	1	0	0	0	4797	826	29	3	6034	3	DST	6	56394339	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	14158319	56394339	114720728	79	32000											
DST	667	genome.wustl.edu	37	chr6	56420474	56420474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagtcacatctgtcactCaattgccctgttaggctatc	9	13	6	13	0	4	0	3	0	1	0	6	0	5	0	2	1	1	2	2	1	3	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:56420474C>A	ENST00000361203.3	-	56	14179	c.14172G>T	c.(14170-14172)ttG>ttT	p.L4724F	DST_ENST00000370769.4_Missense_Mutation_p.L4726F|DST_ENST00000421834.2_Missense_Mutation_p.L2638F|DST_ENST00000370788.2_Missense_Mutation_p.L2638F|DST_ENST00000244364.6_Missense_Mutation_p.L2312F|DST_ENST00000446842.2_Missense_Mutation_p.L4400F|DST_ENST00000370754.5_Missense_Mutation_p.L4904F|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	4724					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)			ATCTGTCACTCAATTGCCCTG	0.458																																																	0													69	68	68					6																	56420474		1950	4162	6112	SO:0001583	missense	0			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.14172G>T	6.37:g.56420474C>A	ENSP00000354508:p.Leu4724Phe		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L4904F	ENST00000361203.3	37	c.14712		6	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262474	0.59431	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.67	4.78	0.61160	.	0.000000	0.43260	D	0.000591	T	0.64427	0.2597	M	0.82323	2.585	0.27378	N	0.9554860000000001	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;0.999;1.0	T	0.69483	-0.5133	9	0.44086	T	0.13	.	16.7799	0.85560	0.0:0.8708:0.1292:0.0	.	2638;4726;4904;4724;2312	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	F	2312;4904;4726;2638;4400;2638;4724	ENSP00000244364:L2312F;ENSP00000359790:L4904F;ENSP00000359805:L4726F;ENSP00000400883:L2638F;ENSP00000393645:L4400F;ENSP00000359824:L2638F;ENSP00000354508:L4724F	ENSP00000244364:L2312F	L	-	3	2	DST	56528433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.855000	0.55957	1.489000	0.48450	0.655000	0.94253	TTG	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0	53	0	C	NM_001723		56420474	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	56420474	C	A	56420474	3	1	123	1	0	0	0	0	1	0	0	0	4797	825	29	3	8755	3	DST	6	56420474	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	26135	56420474	114694593	80	32001											
HSF2	3298	genome.wustl.edu	37	chr6	122752627	122752627	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtagttcagccagtttCggaagagggaagaaaatcta	15	9	11	6	1	2	2	1	0	1	2	3	4	2	4	1	2	1	3	1	2	7	4	rs202207842		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:122752627C>A	ENST00000368455.4	+	12	1475	c.1283C>A	c.(1282-1284)tCg>tAg	p.S428*	HSF2_ENST00000452194.1_Nonsense_Mutation_p.S410*	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	428					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)		CAGCCAGTTTCGGAAGAGGGA	0.313																																																	0													39	40	40					6																	122752627		2202	4297	6499	SO:0001587	stop_gained	0			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.1283C>A	6.37:g.122752627C>A	ENSP00000357440:p.Ser428*		B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Nonsense_Mutation	SNP	pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.S428*	ENST00000368455.4	37	c.1283	CCDS5124.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.261196	0.95368	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.44	3.65	0.41850	.	0.301618	0.28612	N	0.014721	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.261	8.4778	0.33023	0.0:0.7629:0.1549:0.0822	.	.	.	.	X	428;410	.	ENSP00000357440:S428X	S	+	2	0	HSF2	122794326	1.000000	0.71417	0.995000	0.50966	0.922000	0.55478	2.934000	0.48956	0.842000	0.35045	-0.181000	0.13052	TCG	HSF2	-	pfam_Vert_HSTF_C	ENSG00000025156		0.313	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2	HGNC	protein_coding	OTTHUMT00000043520.1		0	35	0	C	NM_004506		122752627	1			no_errors	ENST00000368455	ensembl	human	known	74_37	nonsense	8.33	22	2	SNP	1.000	A	A	122752627	C	A	122752627	4	1	123	1	0	0	0	0	0	1	0	0	7423	893	31	2	1329	2	HSF2	6	122752627	Nonsense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	66332153	122752627	48362440	81	32002											
SERINC1	57515	genome.wustl.edu	37	chr6	122792867	122792867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcgccatggagcacagccCcaggacgctccccatctcca	8	5	9	19	2	1	0	0	0	1	0	4	2	2	2	6	2	2	3	6	2	0	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:122792867C>G	ENST00000339697.4	-	1	100	c.16G>C	c.(16-18)Ggg>Cgg	p.G6R	PKIB_ENST00000392491.2_5'Flank	NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	6					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)		GAGCACAGCCCCAGGACGCTC	0.562																																																	0													121	116	118					6																	122792867		2203	4300	6503	SO:0001583	missense	0			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.16G>C	6.37:g.122792867C>G	ENSP00000342962:p.Gly6Arg		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	pfam_TMS_TDE	p.G6R	ENST00000339697.4	37	c.16	CCDS5125.1	6	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561834	0.86335	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.15952	2.38;2.38	5.37	5.37	0.77165	.	0.333028	0.34603	N	0.003840	T	0.30417	0.0764	M	0.66378	2.025	0.58432	D	0.999999	D	0.64830	0.994	D	0.67103	0.949	T	0.01062	-1.1464	10	0.72032	D	0.01	-1.8684	14.48	0.67576	0.0:1.0:0.0:0.0	.	6	Q9NRX5	SERC1_HUMAN	R	6	ENSP00000342962:G6R;ENSP00000357439:G6R	ENSP00000342962:G6R	G	-	1	0	SERINC1	122834566	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.681000	0.54648	2.786000	0.95864	0.561000	0.74099	GGG	SERINC1	-	NULL	ENSG00000111897		0.562	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC1	HGNC	protein_coding	OTTHUMT00000042031.2		0	23	0	C	NM_020755		122792867	-1			no_errors	ENST00000339697	ensembl	human	known	74_37	missense	60.00	8	12	SNP	1.000	G	G	122792867	C	G	122792867	3	3	123	1	0	0	0	0	1	0	0	0	14124	623	22	5	1385	5	SERINC1	6	122792867	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	40240	122792867	48322200	82	32003											
KIAA0408	9729	genome.wustl.edu	37	chr6	127767634	127767634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctgaaactgttgttcCatttggagcatttctaaatg	9	18	8	6	0	1	1	0	1	1	0	2	2	2	2	1	1	3	4	1	1	3	7			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:127767634C>T	ENST00000483725.3	-	5	2166	c.1830G>A	c.(1828-1830)atG>atA	p.M610I	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	610										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)		ACTGTTGTTCCATTTGGAGCA	0.408																																																	0													198	187	191					6																	127767634		2203	4300	6503	SO:0001583	missense	0			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.1830G>A	6.37:g.127767634C>T	ENSP00000435150:p.Met610Ile		B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	NULL	p.M610I	ENST00000483725.3	37	c.1830	CCDS34531.1	6	.	.	.	.	.	.	.	.	.	.	C	7.849	0.723524	0.15439	.	.	ENSG00000189367	ENST00000483725	T	0.21191	2.02	5.23	1.81	0.25067	.	2.420180	0.03288	N	0.187243	T	0.01421	0.0046	N	0.00538	-1.39	0.09310	N	0.99999	B	0.06786	0.001	B	0.06405	0.002	T	0.36672	-0.9738	10	0.14252	T	0.57	-0.5277	4.6794	0.12727	0.4351:0.3579:0.0:0.207	.	610	Q6ZU52	K0408_HUMAN	I	610	ENSP00000435150:M610I	ENSP00000435150:M610I	M	-	3	0	KIAA0408	127809327	0.432000	0.25554	0.995000	0.50966	0.976000	0.68499	0.220000	0.17660	0.511000	0.28236	0.655000	0.94253	ATG	KIAA0408	-	NULL	ENSG00000189367		0.408	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	HGNC	protein_coding	OTTHUMT00000042145.3		0	75	0	C	NM_014702		127767634	-1			no_errors	ENST00000483725	ensembl	human	novel	74_37	missense	11.43	31	4	SNP	0.800	T	T	127767634	C	T	127767634	3	4	123	1	0	0	0	0	1	0	0	0	8201	594	21	3	262	3	KIAA0408	6	127767634	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	4974767	127767634	43347433	83	32004											
TAAR8	83551	genome.wustl.edu	37	chr6	132874111	132874111	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagcatggtcaggacggtgGagagctgctggtattttgga	8	11	16	6	1	2	1	2	0	0	1	2	4	2	3	0	6	3	4	0	6	1	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:132874111G>T	ENST00000275200.1	+	1	280	c.280G>T	c.(280-282)Gag>Tag	p.E94*		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	94					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CAGGACGGTGGAGAGCTGCTG	0.478																																																	0													177	158	164					6																	132874111		2203	4300	6503	SO:0001587	stop_gained	0			AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"GPCR / Class A : Trace amine associated receptors"	14964	protein-coding gene	gene with protein product		606927	"trace amine receptor 5"	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.280G>T	6.37:g.132874111G>T	ENSP00000275200:p.Glu94*		Q5VUQ0	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.E94*	ENST00000275200.1	37	c.280	CCDS5154.1	6	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250168	0.59212	.	.	ENSG00000146385	ENST00000275200	.	.	.	4.72	4.72	0.59763	.	0.091629	0.41001	D	0.000979	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.4774	11.6799	0.51451	0.0814:0.0:0.9186:0.0	.	.	.	.	X	94	.	ENSP00000275200:E94X	E	+	1	0	TAAR8	132915804	0.997000	0.39634	0.948000	0.38648	0.450000	0.32258	3.203000	0.51075	2.593000	0.87608	0.655000	0.94253	GAG	TAAR8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TAAR_fam	ENSG00000146385		0.478	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR8	HGNC	protein_coding	OTTHUMT00000042262.1		0	76	0	G	NM_053278		132874111	1			no_errors	ENST00000275200	ensembl	human	known	74_37	nonsense	48.08	27	25	SNP	0.869	T	T	132874111	G	T	132874111	4	4	123	1	0	0	0	0	0	1	0	0	15540	1175	41	3	282	3	TAAR8	6	132874111	Nonsense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	5106477	132874111	38240956	84	32005											
TAAR5	9038	genome.wustl.edu	37	chr6	132910226	132910226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagggaagtttaaccagccCcaaaatttattgagcagcag	16	8	9	8	0	0	1	0	1	0	0	0	2	0	2	3	1	4	3	3	1	6	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:132910226C>A	ENST00000258034.2	-	1	651	c.600G>T	c.(598-600)tgG>tgT	p.W200C		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	200					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TTAACCAGCCCCAAAATTTAT	0.478																																																	0													46	47	47					6																	132910226		2203	4299	6502	SO:0001583	missense	0			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.600G>T	6.37:g.132910226C>A	ENSP00000258034:p.Trp200Cys		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.W200C	ENST00000258034.2	37	c.600	CCDS5156.1	6	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110368	0.56398	.	.	ENSG00000135569	ENST00000258034	T	0.37235	1.21	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.49541	0.1563	M	0.87971	2.92	0.80722	D	1	P	0.37573	0.6	P	0.45577	0.486	T	0.55379	-0.8150	10	0.72032	D	0.01	-9.1891	19.769	0.96353	0.0:1.0:0.0:0.0	.	200	O14804	TAAR5_HUMAN	C	200	ENSP00000258034:W200C	ENSP00000258034:W200C	W	-	3	0	TAAR5	132951919	0.111000	0.22076	1.000000	0.80357	0.998000	0.95712	1.105000	0.31086	2.906000	0.99361	0.655000	0.94253	TGG	TAAR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000135569		0.478	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR5	HGNC	protein_coding	OTTHUMT00000042257.1		0	28	0	C	NM_003967		132910226	-1			no_errors	ENST00000258034	ensembl	human	known	74_37	missense	44.44	10	8	SNP	0.999	A	A	132910226	C	A	132910226	3	1	123	1	0	0	0	0	1	0	0	0	15538	624	22	3	417	3	TAAR5	6	132910226	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	36115	132910226	38204841	85	32006											
FTSJ2	29960	genome.wustl.edu	37	chr7	2279081	2279081	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgttgaccttctgcacCgccacctgactccaggcccc	5	7	10	19	3	1	2	0	2	1	0	2	2	2	2	7	2	1	2	7	2	0	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:2279081C>T	ENST00000242257.8	-	2	298	c.270G>A	c.(268-270)gcG>gcA	p.A90A	NUDT1_ENST00000397046.1_5'Flank|NUDT1_ENST00000397048.1_5'Flank|FTSJ2_ENST00000440306.2_Silent_p.A90A|NUDT1_ENST00000356714.1_5'Flank|FTSJ2_ENST00000407040.1_5'Flank|NUDT1_ENST00000397049.1_5'Flank|FTSJ2_ENST00000486040.1_5'UTR	NM_013393.1	NP_037525.1			FtsJ RNA methyltransferase homolog 2 (E. coli)											endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CCTTCTGCACCGCCACCTGAC	0.647																																																	0													26	26	26					7																	2279081		2202	4300	6502	SO:0001819	synonymous_variant	0			AF093415	CCDS5328.1	7p22	2012-06-12	2012-06-12		ENSG00000122687	ENSG00000122687			16352	protein-coding gene	gene with protein product	"rRNA (uridine-2'-O-)-methyltransferase", "MRM2 RNA methyltransferase homolog (S. cerevisiae)"	606906				11827451	Standard	NM_013393		Approved	FJH1, MRM2	uc003slm.3	Q9UI43	OTTHUMG00000023866	ENST00000242257.8:c.270G>A	7.37:g.2279081C>T				Silent	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	p.A90	ENST00000242257.8	37	c.270	CCDS5328.1	7																																																																																			FTSJ2	-	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	ENSG00000122687		0.647	FTSJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ2	HGNC	protein_coding	OTTHUMT00000060187.1		0	20	0	C	NM_013393		2279081	-1			no_errors	ENST00000242257	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.535	T	T	2279081	C	T	2279081	2	4	123	1	0	0	0	0	0	0	0	1	6112	639	23	1		1	FTSJ2	7	2279081	Silent	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09		2279081	156859582	86	32007											
CARD11	84433	genome.wustl.edu	37	chr7	2962953	2962953	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccccacagaggtgaccGaaggccggaagggtctgcag	9	4	16	12	3	1	2	0	1	1	1	1	4	1	3	4	4	2	1	4	4	2	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:2962953G>T	ENST00000396946.4	-	16	2358	c.1955C>A	c.(1954-1956)tCg>tAg	p.S652*		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	652					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.S645L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGAGGTGACCGAAGGCCGGAA	0.652			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	1	Substitution - Missense(1)	lung(1)											31	36	34					7																	2962953		2190	4285	6475	SO:0001587	stop_gained	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1955C>A	7.37:g.2962953G>T	ENSP00000380150:p.Ser652*		A4D1Z7|Q2NKN7|Q548H3	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.S652*	ENST00000396946.4	37	c.1955	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	G	42	9.174968	0.99091	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5532	16.2253	0.82286	0.0:0.0:1.0:0.0	.	.	.	.	X	652;123	.	ENSP00000347695:S123X	S	-	2	0	CARD11	2929479	1.000000	0.71417	0.928000	0.36995	0.294000	0.27393	9.051000	0.93849	2.273000	0.75805	0.555000	0.69702	TCG	CARD11	-	superfamily_PDZ	ENSG00000198286		0.652	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4		0	45	0	G	NM_032415		2962953	-1			no_errors	ENST00000396946	ensembl	human	known	74_37	nonsense	6.12	46	3	SNP	0.997	T	T	2962953	G	T	2962953	4	4	123	1	0	0	0	0	0	1	0	0	2652	1059	37	2	1549	2	CARD11	7	2962953	Nonsense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	683872	2962953	156175710	87	32008											
THSD7A	221981	genome.wustl.edu	37	chr7	11630185	11630185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccctccacagagggccGtctggttgccgcgcctcttg	3	9	12	17	3	2	1	0	0	2	1	3	1	3	1	6	2	2	1	6	2	0	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:11630185G>A	ENST00000423059.4	-	4	1606	c.1355C>T	c.(1354-1356)aCg>aTg	p.T452M		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	452	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAGAGGGCCGTCTGGTTGCC	0.542										HNSCC(18;0.044)																																							0													53	58	57					7																	11630185		1984	4154	6138	SO:0001583	missense	0				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.1355C>T	7.37:g.11630185G>A	ENSP00000406482:p.Thr452Met			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.T452M	ENST00000423059.4	37	c.1355	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046714	0.93740	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61859	0.07	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	M	0.80183	2.485	0.80722	D	1	P	0.37441	0.595	B	0.38803	0.282	T	0.69953	-0.5005	10	0.62326	D	0.03	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	452	Q9UPZ6	THS7A_HUMAN	M	452	ENSP00000406482:T452M	ENSP00000262042:T452M	T	-	2	0	THSD7A	11596710	1.000000	0.71417	0.969000	0.41365	0.958000	0.62258	7.912000	0.87465	2.748000	0.94277	0.655000	0.94253	ACG	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.542	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4		0	56	0	G	XM_928187.2		11630185	-1			no_errors	ENST00000423059	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	A	A	11630185	G	A	11630185	3	1	123	1	0	0	0	0	1	0	0	0	15926	1145	40	1	3714	1	THSD7A	7	11630185	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	8667232	11630185	147508478	88	32009											
DNAH11	8701	genome.wustl.edu	37	chr7	21628842	21628842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagatttttgggcaatcctGatcacgctttagtttatcaa	11	15	7	8	1	2	2	2	1	0	1	3	2	3	2	1	1	0	3	1	1	4	6			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:21628842G>A	ENST00000409508.3	+	12	2021	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D664N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	664	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGGCAATCCTGATCACGCTTT	0.289									Kartagener syndrome																																								0													83	79	80					7																	21628842		1811	4074	5885	SO:0001583	missense	0	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.1990G>A	7.37:g.21628842G>A	ENSP00000475939:p.Asp664Asn		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D664N	ENST00000409508.3	37	c.1990		7	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202765	0.58234	.	.	ENSG00000105877	ENST00000328843	T	0.57107	0.42	5.58	5.58	0.84498	Dynein heavy chain, domain-1 (1);	0.531853	0.19644	N	0.109378	T	0.64170	0.2574	.	.	.	0.39918	D	0.974114	P	0.47484	0.896	P	0.51550	0.673	T	0.66300	-0.5958	9	0.52906	T	0.07	.	18.3512	0.90339	0.0:0.0:1.0:0.0	.	664	Q96DT5	DYH11_HUMAN	N	664	ENSP00000330671:D664N	ENSP00000330671:D664N	D	+	1	0	DNAH11	21595367	1.000000	0.71417	0.993000	0.49108	0.061000	0.15899	6.657000	0.74402	2.623000	0.88846	0.650000	0.86243	GAT	DNAH11	-	pfam_Dynein_heavy_dom-1	ENSG00000105877		0.289	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6		0	90	0	G	NM_003777		21628842	1			no_errors	ENST00000328843	ensembl	human	known	74_37	missense	7.26	115	9	SNP	1.000	A	A	21628842	G	A	21628842	3	1	123	1	0	0	0	0	1	0	0	0	4613	1290	45	3	2036	3	DNAH11	7	21628842	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	9998657	21628842	137509821	89	32010											
ZNF117	51351	genome.wustl.edu	37	chr7	64439388	64439388	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtagggtttctcttcagtAtgaattctcttatgtctaat	8	20	7	6	0	4	1	1	1	3	0	6	1	4	1	0	1	0	3	0	1	5	8			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:64439388A>C	ENST00000282869.6	-	4	1845	c.561T>G	c.(559-561)caT>caG	p.H187Q		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	187					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTCTTCAGTATGAATTCTCT	0.363																																																	0													49	52	51					7																	64439388		2155	4275	6430	SO:0001583	missense	0			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.561T>G	7.37:g.64439388A>C	ENSP00000282869:p.His187Gln		Q02313|Q7Z7Q7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H187Q	ENST00000282869.6	37	c.561	CCDS43593.1	7	.	.	.	.	.	.	.	.	.	.	.	16.68	3.190003	0.58017	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.66995	-0.24	1.2	-1.59	0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81216	0.4776	M	0.93462	3.42	0.29053	N	0.884355	D	0.62365	0.991	D	0.65684	0.937	T	0.72070	-0.4401	9	0.72032	D	0.01	.	5.435	0.16476	0.4314:0.0:0.5686:0.0	.	187	Q03924	ZN117_HUMAN	Q	187	ENSP00000282869:H187Q	ENSP00000282869:H187Q	H	-	3	2	ZNF117	64076823	0.495000	0.26051	0.019000	0.16419	0.622000	0.37654	0.507000	0.22675	-0.340000	0.08388	0.172000	0.16884	CAT	ZNF117	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152926		0.363	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF117	HGNC	protein_coding	OTTHUMT00000344863.3		0	48	0	A	NM_024498		64439388	-1			no_errors	ENST00000282869	ensembl	human	known	74_37	missense	37.50	25	15	SNP	1.000	C	C	64439388	A	C	64439388	3	2	123	1	0	0	0	0	1	0	0	0	17765	446	16	4	894	4	ZNF117	7	64439388	Missense_Mutation	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	42810546	64439388	94699275	90	32011											
PPP1R9A	55607	genome.wustl.edu	37	chr7	94750088	94750088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgctggacttgaaaaGctgggaatattcgtcaagac	13	9	12	7	1	1	3	1	1	0	2	2	5	1	5	0	2	2	3	0	2	5	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:94750088G>T	ENST00000433881.1	+	4	2125	c.1593G>T	c.(1591-1593)aaG>aaT	p.K531N	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.K531N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.K531N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.K531N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.K531N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.K531N			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	531	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GACTTGAAAAGCTGGGAATAT	0.398										HNSCC(28;0.073)																																							0													157	153	154					7																	94750088		2203	4300	6503	SO:0001583	missense	0			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.1593G>T	7.37:g.94750088G>T	ENSP00000398870:p.Lys531Asn		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.K531N	ENST00000433881.1	37	c.1593	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498859	0.64298	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	4.46	1.52	0.23074	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.28054	0.825	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.998;0.999;0.999;0.999	T	0.24548	-1.0157	10	0.87932	D	0	.	7.6551	0.28371	0.4772:0.0:0.5228:0.0	.	531;531;531;531;531	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	N	531	ENSP00000405514:K531N;ENSP00000344524:K531N;ENSP00000411342:K531N;ENSP00000398870:K531N;ENSP00000289495:K531N;ENSP00000402893:K531N	ENSP00000289495:K531N	K	+	3	2	PPP1R9A	94588024	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.594000	0.36697	0.330000	0.23485	0.655000	0.94253	AAG	PPP1R9A	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000158528		0.398	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1		0	53	0	G	NM_001166160		94750088	1			no_errors	ENST00000289495	ensembl	human	known	74_37	missense	5.95	78	5	SNP	1.000	T	T	94750088	G	T	94750088	3	4	123	1	0	0	0	0	1	0	0	0	12420	962	34	3	1603	3	PPP1R9A	7	94750088	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	30310700	94750088	64388575	91	32012											
ASNS	440	genome.wustl.edu	37	chr7	97493669	97493669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacccaggaacactttcttaTtggcagtatccagtaaaaca	14	11	6	10	0	1	0	0	0	1	0	2	1	2	1	2	2	3	3	2	2	6	6			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:97493669T>C	ENST00000394309.3	-	4	860	c.389A>G	c.(388-390)aAt>aGt	p.N130S	ASNS_ENST00000175506.4_Missense_Mutation_p.N130S|ASNS_ENST00000444334.1_Missense_Mutation_p.N109S|ASNS_ENST00000437628.1_Missense_Mutation_p.N47S|ASNS_ENST00000422745.1_Missense_Mutation_p.N109S|ASNS_ENST00000455086.1_Missense_Mutation_p.N47S|ASNS_ENST00000394308.3_Missense_Mutation_p.N130S	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	130	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CACTTTCTTATTGGCAGTATC	0.373																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)												0													65	59	61					7																	97493669		2203	4299	6502	SO:0001583	missense	0			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.389A>G	7.37:g.97493669T>C	ENSP00000377846:p.Asn130Ser		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.N130S	ENST00000394309.3	37	c.389	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	T	10.23	1.294288	0.23564	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334;ENST00000442734;ENST00000437657	T;T;T;T;T;T;T;T	0.42131	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.98	4.19	1.7	0.24286	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.094800	0.64402	N	0.000001	T	0.29423	0.0733	L	0.41573	1.285	0.53688	D	0.999977	B	0.02656	0.0	B	0.06405	0.002	T	0.07673	-1.0760	10	0.54805	T	0.06	-23.4444	5.8769	0.18834	0.0:0.0925:0.1665:0.741	.	130	P08243	ASNS_HUMAN	S	130;130;47;130;109;47;109;130;130	ENSP00000175506:N130S;ENSP00000377846:N130S;ENSP00000414379:N47S;ENSP00000377845:N130S;ENSP00000414901:N109S;ENSP00000408472:N47S;ENSP00000406994:N109S;ENSP00000400422:N130S	ENSP00000175506:N130S	N	-	2	0	ASNS	97331605	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	2.805000	0.47939	0.249000	0.21456	-0.386000	0.06593	AAT	ASNS	-	pfam_GATase_dom,tigrfam_Asn_synth_AEB	ENSG00000070669		0.373	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1		0	30	0	T	NM_001673, NM_183356		97493669	-1			no_errors	ENST00000175506	ensembl	human	known	74_37	missense	52.94	24	27	SNP	1.000	C	C	97493669	T	C	97493669	3	2	123	1	0	0	0	0	1	0	0	0	1049	1493	52	4	1336	4	ASNS	7	97493669	Missense_Mutation	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	2743581	97493669	61644994	92	32013											
SPDYE3	441272	genome.wustl.edu	37	chr7	99917260	99917260	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctacttcctgtacgggaaGacccactctcacataccctt	9	12	5	15	1	2	1	1	0	2	1	4	2	3	2	3	1	3	1	3	1	4	6			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:99917260G>A	ENST00000332397.6	+	9	1603	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	SPDYE3_ENST00000437326.2_Silent_p.K96K	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	473										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGTACGGGAAGACCCACTCTC	0.532																																																	0													124	132	129					7																	99917260		2203	4300	6503	SO:0001819	synonymous_variant	0			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1419G>A	7.37:g.99917260G>A			Q495Y9|Q6PHC4	Silent	SNP	pfam_Cell_cycle_regulatory_Spy1	p.K473	ENST00000332397.6	37	c.1419	CCDS47658.2	7																																																																																			SPDYE3	-	pfam_Cell_cycle_regulatory_Spy1	ENSG00000214300		0.532	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	HGNC	protein_coding	OTTHUMT00000340224.2		0	159	0	G	NM_001004351		99917260	1			no_errors	ENST00000332397	ensembl	human	known	74_37	silent	19.03	217	51	SNP	0.004	A	A	99917260	G	A	99917260	2	1	123	1	0	0	0	0	0	0	0	1	15077	933	33	3		3	SPDYE3	7	99917260	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	2423591	99917260	59221403	93	32014											
MEPCE	56257	genome.wustl.edu	37	chr7	100028402	100028402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccatgtagttcttgcttCgccactcaagactggtcgga	7	11	12	11	2	2	1	1	0	1	1	4	2	2	2	2	3	1	3	2	3	2	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:100028402C>T	ENST00000310512.2	+	1	1149	c.761C>T	c.(760-762)tCg>tTg	p.S254L	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	254					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)					GTTCTTGCTTCGCCACTCAAG	0.592																																																	0													129	141	137					7																	100028402		2203	4300	6503	SO:0001583	missense	0			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.761C>T	7.37:g.100028402C>T	ENSP00000308546:p.Ser254Leu		B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	pfam_Bin3	p.S254L	ENST00000310512.2	37	c.761	CCDS5693.1	7	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458824	0.84317	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.17	4.17	0.49024	.	0.000000	0.64402	D	0.000001	T	0.69342	0.3100	L	0.49126	1.545	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.71679	-0.4520	9	0.56958	D	0.05	-2.8836	14.0318	0.64619	0.0:1.0:0.0:0.0	.	254	Q7L2J0	MEPCE_HUMAN	L	254	.	ENSP00000308546:S254L	S	+	2	0	MEPCE	99866338	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	6.607000	0.74163	2.164000	0.68074	0.313000	0.20887	TCG	MEPCE	-	NULL	ENSG00000146834		0.592	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPCE	HGNC	protein_coding	OTTHUMT00000339135.1		0	12	0	C			100028402	1			no_errors	ENST00000310512	ensembl	human	known	74_37	missense	14.89	40	7	SNP	1.000	T	T	100028402	C	T	100028402	3	4	123	1	0	0	0	0	1	0	0	0	9515	893	31	1	763	1	MEPCE	7	100028402	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	111142	100028402	59110261	94	32015											
MUC17	140453	genome.wustl.edu	37	chr7	100696700	100696700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggaccttccaaaacattgGctttgacatctgccaaggta	11	11	9	10	0	1	1	0	1	1	0	2	2	2	2	3	3	2	2	3	3	4	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:100696700G>A	ENST00000306151.4	+	11	13410	c.13346G>A	c.(13345-13347)gGc>gAc	p.G4449D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4449					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)					CAAAACATTGGCTTTGACATC	0.483																																																	0													90	86	87					7																	100696700		2203	4300	6503	SO:0001583	missense	0			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.13346G>A	7.37:g.100696700G>A	ENSP00000302716:p.Gly4449Asp		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.G4449D	ENST00000306151.4	37	c.13346	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	8.670	0.902610	0.17760	.	.	ENSG00000169876	ENST00000306151	T	0.03889	3.77	5.49	3.65	0.41850	.	.	.	.	.	T	0.16257	0.0391	M	0.72118	2.19	0.26244	N	0.978824	D	0.76494	0.999	D	0.76575	0.988	T	0.07404	-1.0774	9	0.35671	T	0.21	.	7.4062	0.26991	0.0903:0.1691:0.7406:0.0	.	4449	Q685J3	MUC17_HUMAN	D	4449	ENSP00000302716:G4449D	ENSP00000302716:G4449D	G	+	2	0	MUC17	100483420	0.292000	0.24362	0.594000	0.28785	0.738000	0.42128	0.603000	0.24149	0.672000	0.31204	0.650000	0.86243	GGC	MUC17	-	NULL	ENSG00000169876		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1		0	30	0	G	NM_001040105		100696700	1			no_errors	ENST00000306151	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.922	A	A	100696700	G	A	100696700	3	1	123	1	0	0	0	0	1	0	0	0	10012	1203	42	3	13388	3	MUC17	7	100696700	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	668298	100696700	58441963	95	32016											
SLC26A3	1811	genome.wustl.edu	37	chr7	107414599	107414599	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtacatataaatcctttCtgcaggagaggataacaagt	16	10	8	7	0	1	1	0	0	1	1	2	3	2	2	1	2	3	2	1	2	6	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:107414599C>A	ENST00000340010.5	-	17	1958		c.e17-1		SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3						anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TAAATCCTTTCTGCAGGAGAG	0.408																																																	0													162	153	156					7																	107414599		2203	4300	6503	SO:0001630	splice_region_variant	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1774-1G>T	7.37:g.107414599C>A				Splice_Site	SNP	-	e16-1	ENST00000340010.5	37	c.1774-1	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875758	0.51695	.	.	ENSG00000091138	ENST00000340010	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC26A3	107201835	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	6.596000	0.74113	2.937000	0.99478	0.650000	0.86243	.	SLC26A3	-	-	ENSG00000091138		0.408	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1		0	16	0	C	NM_000111	Intron	107414599	-1			no_errors	ENST00000340010	ensembl	human	known	74_37	splice_site	6.90	27	2	SNP	1.000	A	A	107414599	C	A	107414599	5	1	123	1	0	0	0	0	0	0	1	0	14563	927	32	3	541	3	SLC26A3	7	107414599	Splice_Site	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	6717899	107414599	51724064	96	32017											
KIAA1147	57189	genome.wustl.edu	37	chr7	141366131	141366131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgggggagaaaatatcaaaAtgcgctttcgaagtaaggca	15	8	13	5	2	1	1	1	0	0	1	2	3	1	1	0	3	1	3	0	3	7	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:141366131A>G	ENST00000536163.1	-	5	775	c.776T>C	c.(775-777)aTt>aCt	p.I259T	KIAA1147_ENST00000482493.1_Missense_Mutation_p.I155T|RP5-894A10.6_ENST00000602609.1_RNA	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	259										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					AAATATCAAAATGCGCTTTCG	0.468																																																	0													68	67	67					7																	141366131		1932	4136	6068	SO:0001583	missense	0			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.776T>C	7.37:g.141366131A>G	ENSP00000445768:p.Ile259Thr		Q9ULS3	Missense_Mutation	SNP	pfam_DUF2347	p.I259T	ENST00000536163.1	37	c.776	CCDS47726.1	7	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724939	0.89298	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	5.31	5.31	0.75309	.	0.117942	0.56097	D	0.000033	T	0.80803	0.4693	M	0.87269	2.87	0.48830	D	0.999715	D	0.65815	0.995	D	0.65987	0.94	D	0.84776	0.0770	9	0.87932	D	0	-15.494	15.2503	0.73539	1.0:0.0:0.0:0.0	.	259	A4D1U4	LCHN_HUMAN	T	259;155	.	ENSP00000297761:I259T	I	-	2	0	KIAA1147	141012600	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.604000	0.90877	2.006000	0.58801	0.482000	0.46254	ATT	KIAA1147	-	pfam_DUF2347	ENSG00000257093		0.468	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1147	HGNC	protein_coding	OTTHUMT00000349104.1		0	47	0	A			141366131	-1			no_errors	ENST00000536163	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	G	G	141366131	A	G	141366131	3	3	123	1	0	0	0	0	1	0	0	0	8237	101	4	4	611	4	KIAA1147	7	141366131	Missense_Mutation	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	33951532	141366131	17772532	97	32018											
OR9A4	130075	genome.wustl.edu	37	chr7	141619455	141619455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgcttgtttctctacgtGaaacccaagcaaacgcaggc	11	9	9	12	2	1	1	0	1	1	0	2	1	1	1	1	1	6	5	1	1	4	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:141619455G>A	ENST00000548136.1	+	1	839	c.780G>A	c.(778-780)gtG>gtA	p.V260V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	260						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)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTCTCTACGTGAAACCCAAGC	0.502																																																	0													67	71	70					7																	141619455		2203	4300	6503	SO:0001819	synonymous_variant	0				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.780G>A	7.37:g.141619455G>A			B9EGV6|Q6IFI4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V260	ENST00000548136.1	37	c.780	CCDS43661.1	7																																																																																			OR9A4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000258083		0.502	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9A4	HGNC	protein_coding	OTTHUMT00000350806.3		0	25	0	G	NM_001001656		141619455	1			no_errors	ENST00000548136	ensembl	human	known	74_37	silent	31.03	20	9	SNP	0.770	A	A	141619455	G	A	141619455	2	1	123	1	0	0	0	0	0	0	0	1	11288	1277	45	3		3	OR9A4	7	141619455	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	253324	141619455	17519208	98	32019											
MGAM	8972	genome.wustl.edu	37	chr7	141755858	141755858	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ggggctggaggaggacggcaGtgcccatggagtgctcctgc	6	6	19	10	1	0	0	0	0	0	0	1	4	1	4	2	7	3	3	2	7	0	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:141755858G>A	ENST00000549489.2	+	29	3637	c.3542G>A	c.(3541-3543)aGt>aAt	p.S1181N	MGAM_ENST00000475668.2_Missense_Mutation_p.S1181N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1181	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGGACGGCAGTGCCCATGGA	0.507																																																	0													36	34	35					7																	141755858		1955	4144	6099	SO:0001583	missense	0			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.3542G>A	7.37:g.141755858G>A	ENSP00000447378:p.Ser1181Asn		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.S1181N	ENST00000549489.2	37	c.3542	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.351897	0.01256	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.87571	-2.27	4.11	0.808	0.18719	Glycoside hydrolase-type carbohydrate-binding (1);	0.366291	0.20062	N	0.100071	T	0.56202	0.1969	N	0.00778	-1.195	0.21105	N	0.999781	B	0.02656	0.0	B	0.04013	0.001	T	0.56123	-0.8031	10	0.02654	T	1	.	6.3974	0.21620	0.5321:0.0:0.4679:0.0	.	1181	O43451	MGA_HUMAN	N	1181;1181;1058	ENSP00000447378:S1181N	ENSP00000316431:S1058N	S	+	2	0	MGAM	141402327	0.999000	0.42202	1.000000	0.80357	0.323000	0.28346	0.945000	0.29056	0.292000	0.22492	0.313000	0.20887	AGT	MGAM	-	superfamily_Gal_mutarotase_SF_dom	ENSG00000257335		0.507	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3		0	58	0	G			141755858	1			no_errors	ENST00000549489	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	A	A	141755858	G	A	141755858	3	1	123	1	0	0	0	0	1	0	0	0	9579	1029	36	3	3652	3	MGAM	7	141755858	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	136403	141755858	17382805	99	32020											
NOS3	4846	genome.wustl.edu	37	chr7	150695532	150695532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaccaaccggggcaacCttcggtgagtgccccccacc	8	5	10	18	2	0	1	0	1	0	0	1	1	0	1	8	3	4	1	8	3	2	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:150695532C>T	ENST00000484524.1	+	5	670	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	NOS3_ENST00000467517.1_Missense_Mutation_p.L224F|NOS3_ENST00000461406.1_Missense_Mutation_p.L18F|NOS3_ENST00000297494.3_Missense_Mutation_p.L224F	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGGGGCAACCTTCGGTGAGT	0.627																																																	0													50	44	46					7																	150695532		2192	4284	6476	SO:0001583	missense	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.670C>T	7.37:g.150695532C>T	ENSP00000420215:p.Leu224Phe		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L224F	ENST00000484524.1	37	c.670	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	c	18.75	3.689759	0.68271	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.1	2.15	0.27550	Nitric oxide synthase, oxygenase domain (3);	0.365786	0.22864	N	0.054712	T	0.51500	0.1678	M	0.82823	2.61	0.36618	D	0.875612	D;D;D;D;D	0.89917	0.994;0.994;0.997;0.996;1.0	D;D;D;D;D	0.75020	0.961;0.961;0.985;0.982;0.985	T	0.57991	-0.7715	10	0.87932	D	0	-23.5619	6.1013	0.20049	0.4911:0.4204:0.0:0.0884	.	224;224;224;18;224	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	F	224;18;224;224	ENSP00000297494:L224F;ENSP00000417143:L18F;ENSP00000420215:L224F;ENSP00000420551:L224F	ENSP00000297494:L224F	L	+	1	0	NOS3	150326465	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	1.169000	0.31871	0.598000	0.29829	0.573000	0.79308	CTT	NOS3	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000164867		0.627	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1		0	41	0	C	NM_000603		150695532	1			no_errors	ENST00000297494	ensembl	human	known	74_37	missense	52.94	8	9	SNP	0.997	T	T	150695532	C	T	150695532	3	4	123	1	0	0	0	0	1	0	0	0	10583	681	24	3	688	3	NOS3	7	150695532	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	8939674	150695532	8443131	100	32021											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110396356	110396356	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctttatctggaactccaGgtctgttatatgacatctga	10	14	7	10	0	3	2	0	2	3	0	4	3	4	3	2	2	1	1	2	2	4	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr8:110396356G>T	ENST00000378402.5	+	5	579	c.475G>T	c.(475-477)Ggt>Tgt	p.G159C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	159	IPT/TIG 2.				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)			TGGAACTCCAGGTCTGTTATA	0.274										HNSCC(38;0.096)																																							0													134	132	132					8																	110396356		1814	4070	5884	SO:0001630	splice_region_variant	0			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.475+1G>T	8.37:g.110396356G>T			Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.G159C	ENST00000378402.5	37	c.475	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536339	0.85812	.	.	ENSG00000205038	ENST00000378402	D	0.86769	-2.17	5.95	5.95	0.96441	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93706	0.7989	M	0.81802	2.56	0.52099	D	0.999943	D	0.89917	1.0	D	0.72982	0.979	D	0.93909	0.7195	10	0.87932	D	0	.	17.875	0.88822	0.0:0.0:1.0:0.0	.	159	Q86WI1	PKHL1_HUMAN	C	159	ENSP00000367655:G159C	ENSP00000367655:G159C	G	+	1	0	PKHD1L1	110465532	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.368000	0.66133	2.821000	0.97095	0.650000	0.86243	GGT	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.274	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0	43	0	G	NM_177531	Missense_Mutation	110396356	1			no_errors	ENST00000378402	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	110396356	G	T	110396356	5	4	123	1	0	0	0	0	0	0	1	0	12011	1014	35	3	493	3	PKHD1L1	8	110396356	Splice_Site	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09		110396356	35967666	101	32022											
TRAPPC9	83696	genome.wustl.edu	37	chr8	141293992	141293992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctcgtgcacactacctggGcagagaggtgctgatctgca	8	8	12	13	1	1	2	0	1	1	1	2	3	1	2	2	2	4	4	2	2	1	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr8:141293992G>T	ENST00000438773.2	-	14	2243	c.2110C>A	c.(2110-2112)Ccc>Acc	p.P704T	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.P802T|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P695T	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	704					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						CACTACCTGGGCAGAGAGGTG	0.483																																																	0													103	103	103					8																	141293992		2203	4300	6503	SO:0001583	missense	0			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.2110C>A	8.37:g.141293992G>T	ENSP00000405060:p.Pro704Thr		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.P802T	ENST00000438773.2	37	c.2404	CCDS55278.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.745179|4.745179	0.89663|0.89663	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.233345	.|0.44097	.|D	.|0.000492	T|T	0.75155|0.75155	0.3811|0.3811	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|P;B;D;P	.|0.59357	.|0.896;0.4;0.985;0.804	.|P;B;P;P	.|0.56434	.|0.673;0.405;0.798;0.645	T|T	0.77408|0.77408	-0.2599|-0.2599	5|9	.|0.72032	.|D	.|0.01	.|.	19.5027|19.5027	0.95103|0.95103	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|802;704;695;802	.|A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.|.;TPPC9_HUMAN;.;.	D|T	547|802;695;704	.|.	.|ENSP00000373978:P695T	A|P	-|-	2|1	0|0	TRAPPC9|TRAPPC9	141363174|141363174	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	8.767000|8.767000	0.91732|0.91732	2.601000|2.601000	0.87937|0.87937	0.655000|0.655000	0.94253|0.94253	GCC|CCC	TRAPPC9	-	pfam_TRAPP_II_complex_Trs120	ENSG00000167632		0.483	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1		0	30	0	G	NM_031466		141293992	-1			no_errors	ENST00000389328	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T	T	141293992	G	T	141293992	3	4	123	1	0	0	0	0	1	0	0	0	16513	1203	42	3	1376	3	TRAPPC9	8	141293992	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	30897636	141293992	5070030	102	32023											
MPDZ	8777	genome.wustl.edu	37	chr9	13221476	13221476	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcattcaccaattcaatCgtttccatgtgttgccagtg	9	14	6	12	1	3	0	3	0	0	0	5	0	4	0	4	0	1	2	4	0	2	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr9:13221476C>A	ENST00000319217.7	-	7	1018	c.771G>T	c.(769-771)acG>acT	p.T257T	MPDZ_ENST00000381015.4_Silent_p.T257T|MPDZ_ENST00000381022.2_Silent_p.T257T|MPDZ_ENST00000447879.1_Silent_p.T257T|MPDZ_ENST00000541718.1_Silent_p.T257T|MPDZ_ENST00000546205.1_Silent_p.T257T|MPDZ_ENST00000536827.1_Silent_p.T257T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	257	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCAATTCAATCGTTTCCATGT	0.378																																																	0													108	102	104					9																	13221476		1904	4108	6012	SO:0001819	synonymous_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.771G>T	9.37:g.13221476C>A			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.T257	ENST00000319217.7	37	c.771		9																																																																																			MPDZ	-	superfamily_PDZ,pfscan_PDZ	ENSG00000107186		0.378	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2		0	42	0	C	NM_003829		13221476	-1			no_errors	ENST00000319217	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.219	A	A	13221476	C	A	13221476	2	1	123	1	0	0	0	0	0	0	0	1	9760	871	31	2		2	MPDZ	9	13221476	Silent	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09		13221476	127991955	103	32024											
TEK	7010	genome.wustl.edu	37	chr9	27158010	27158010	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagttactcaagatgtGaccagagaatgggctaaaaa	16	8	11	6	0	1	3	1	1	0	2	1	5	1	4	1	2	1	2	1	2	7	2	rs55892210	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr9:27158010G>T	ENST00000380036.4	+	2	676	c.234G>T	c.(232-234)gtG>gtT	p.V78V	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Silent_p.V78V	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	78	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CTCAAGATGTGACCAGAGAAT	0.488																																																	0													93	93	93					9																	27158010		2203	4300	6503	SO:0001819	synonymous_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.234G>T	9.37:g.27158010G>T			A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V78	ENST00000380036.4	37	c.234	CCDS6519.1	9																																																																																			TEK	-	pfam_Tyr_kin_Tie2_Ig-like_dom-1_N	ENSG00000120156		0.488	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3		0	62	0	G			27158010	1			no_errors	ENST00000380036	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.903	T	T	27158010	G	T	27158010	2	4	123	1	0	0	0	0	0	0	0	1	15798	1277	45	3		3	TEK	9	27158010	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	13936534	27158010	114055421	104	32025											
FAM75A6	389730	genome.wustl.edu	37	chr9	43628646	43628646	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcacctctgcagttgtGaaagaaggtccgaagtctcc	9	10	10	12	1	3	2	1	1	2	1	5	3	4	2	4	1	2	2	4	1	3	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr9:43628646G>T	ENST00000332857.6	-	3	324	c.296C>A	c.(295-297)tCa>tAa	p.S99*	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	99					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTGCAGTTGTGAAAGAAGGTC	0.607																																																	0																																										SO:0001587	stop_gained	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.296C>A	9.37:g.43628646G>T	ENSP00000329825:p.Ser99*			Nonsense_Mutation	SNP	NULL	p.S99*	ENST00000332857.6	37	c.296	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074898	0.36566	.	.	ENSG00000185775	ENST00000332857	.	.	.	1.69	-0.293	0.12835	.	0.222920	0.22942	N	0.053764	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.1372	0.10176	0.4106:0.0:0.5894:0.0	.	.	.	.	X	99	.	ENSP00000329825:S99X	S	-	2	0	FAM75A6	43568642	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.584000	0.23864	-0.092000	0.12417	-0.515000	0.04445	TCA	SPATA31A6	-	NULL	ENSG00000185775		0.607	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1		0	123	0	G	NM_001145196		43628646	-1			no_errors	ENST00000332857	ensembl	human	known	74_37	nonsense	30.61	102	45	SNP	0.001	T	T	43628646	G	T	43628646	4	4	123	1	0	0	0	0	0	1	0	0	5644	1294	45	3	3743	3	FAM75A6	9	43628646	Nonsense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	16470636	43628646	97584785	105	32026											
CORO2A	7464	genome.wustl.edu	37	chr9	100895438	100895438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatcacatcttggtgacagCtaatcgtactcatggggctt	9	12	11	9	1	3	1	2	1	1	0	4	2	3	2	0	4	2	3	0	4	2	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr9:100895438C>T	ENST00000343933.5	-	5	787	c.530G>A	c.(529-531)aGc>aAc	p.S177N	CORO2A_ENST00000375077.4_Missense_Mutation_p.S177N	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	177					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)				TTGGTGACAGCTAATCGTACT	0.547																																																	0													289	215	240					9																	100895438		2203	4300	6503	SO:0001583	missense	0			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.530G>A	9.37:g.100895438C>T	ENSP00000343746:p.Ser177Asn		Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S177N	ENST00000343933.5	37	c.530	CCDS6735.1	9	.	.	.	.	.	.	.	.	.	.	C	4.448	0.082877	0.08533	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.06608	3.28;3.28	5.01	-3.56	0.04626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.765466	0.13339	N	0.395302	T	0.04003	0.0112	N	0.21583	0.68	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.36040	-0.9764	10	0.37606	T	0.19	-0.0035	8.6624	0.34101	0.0:0.2454:0.1303:0.6243	.	177	Q92828	COR2A_HUMAN	N	177	ENSP00000343746:S177N;ENSP00000364218:S177N	ENSP00000343746:S177N	S	-	2	0	CORO2A	99935259	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-1.416000	0.02467	-0.794000	0.04468	-1.067000	0.02272	AGC	CORO2A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000106789		0.547	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1		0	66	0	C	NM_003389		100895438	-1			no_errors	ENST00000343933	ensembl	human	known	74_37	missense	31.03	60	27	SNP	0.014	T	T	100895438	C	T	100895438	3	4	123	1	0	0	0	0	1	0	0	0	3763	797	28	3	1079	3	CORO2A	9	100895438	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	57266792	100895438	40317993	106	32027											
CERCAM	51148	genome.wustl.edu	37	chr9	131196803	131196803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgccctgcgtctggcGggtgcccgcaagctgctggc	3	8	15	15	3	1	0	0	0	1	0	1	0	1	0	3	3	5	3	3	3	2	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr9:131196803G>A	ENST00000372838.4	+	11	1844	c.1446G>A	c.(1444-1446)gcG>gcA	p.A482A	CERCAM_ENST00000372842.1_Silent_p.A404A|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	482					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						TGCGTCTGGCGGGTGCCCGCA	0.672																																																	0													44	46	45					9																	131196803		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1446G>A	9.37:g.131196803G>A			A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	pfam_Glyco_trans_25	p.A482	ENST00000372838.4	37	c.1446	CCDS6901.2	9																																																																																			CERCAM	-	pfam_Glyco_trans_25	ENSG00000167123		0.672	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2		0	30	0	G	NM_016174		131196803	1			no_errors	ENST00000372838	ensembl	human	known	74_37	silent	21.74	18	5	SNP	0.158	A	A	131196803	G	A	131196803	2	1	123	1	0	0	0	0	0	0	0	1	3273	1103	39	1		1	CERCAM	9	131196803	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	30301365	131196803	10016628	107	32028											
MAMDC4	158056	genome.wustl.edu	37	chr9	139753531	139753531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggggcgcaggcgggcatcggCggcaccagtggctggaggcc	5	3	21	12	4	0	0	0	0	0	0	1	1	0	1	2	9	0	4	2	9	0	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr9:139753531C>T	ENST00000317446.2	+	24	3081	c.3031C>T	c.(3031-3033)Cgg>Tgg	p.R1011W	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.R1090W	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)		CGGGCATCGGCGGCACCAGTG	0.682																																																	0													13	16	15					9																	139753531		2130	4218	6348	SO:0001583	missense	0			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.3031C>T	9.37:g.139753531C>T	ENSP00000319388:p.Arg1011Trp			Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt	p.R1090W	ENST00000317446.2	37	c.3268	CCDS7010.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.11|16.11	3.029637|3.029637	0.54790|0.54790	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.02085	.|4.46;4.46	4.76|4.76	0.257|0.257	0.15574|0.15574	.|Concanavalin A-like lectin/glucanase (1);MAM domain (3);	.|0.237270	.|0.28322	.|N	.|0.015780	T|T	0.11452|0.11452	0.0279|0.0279	M|M	0.80183|0.80183	2.485|2.485	0.24306|0.24306	N|N	0.995105|0.995105	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.996	T|T	0.01528|0.01528	-1.1332|-1.1332	5|10	.|0.87932	.|D	.|0	-42.4383|-42.4383	13.7867|13.7867	0.63115|0.63115	0.7453:0.2547:0.0:0.0|0.7453:0.2547:0.0:0.0	.|.	.|1090;1011	.|Q6UXC1;Q6UXC1-2	.|AEGP_HUMAN;.	V|W	1075|1011;1090	.|ENSP00000319388:R1011W;ENSP00000411339:R1090W	.|ENSP00000319388:R1011W	A|R	+|+	2|1	0|2	MAMDC4|MAMDC4	138873352|138873352	0.002000|0.002000	0.14202|0.14202	0.211000|0.211000	0.23655|0.23655	0.766000|0.766000	0.43426|0.43426	-0.286000|-0.286000	0.08399|0.08399	0.056000|0.056000	0.16144|0.16144	-0.314000|-0.314000	0.08810|0.08810	GCG|CGG	MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.682	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3		0	25	0	C	NM_206920		139753531	1			no_errors	ENST00000445819	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.254	T	T	139753531	C	T	139753531	3	4	123	1	0	0	0	0	1	0	0	0	9242	759	27	1	3125	1	MAMDC4	9	139753531	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	8556728	139753531	1459900	108	32029											
FBXO18	84893	genome.wustl.edu	37	chr10	5955768	5955768	+	Missense_Mutation	SNP	A	A	G	1	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	agaattcctgcactcaggccAcaaaagttaaagaggagcca	16	6	9	10	0	1	2	1	0	0	2	2	3	2	3	3	2	2	2	3	2	5	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr10:5955768A>G	ENST00000362091.4	+	7	1385	c.1270A>G	c.(1270-1272)Aca>Gca	p.T424A	FBXO18_ENST00000379999.5_Missense_Mutation_p.T475A|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	424					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						CACTCAGGCCACAAAAGTTAA	0.413																																																	0													163	142	149					10																	5955768		2203	4300	6503	SO:0001583	missense	0			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.1270A>G	10.37:g.5955768A>G	ENSP00000355415:p.Thr424Ala		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom	p.T475A	ENST00000362091.4	37	c.1423	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	A	4.273	0.049790	0.08243	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	5.63	1.93	0.25924	.	1.042240	0.07434	N	0.896205	T	0.18964	0.0455	N	0.14661	0.345	0.20926	N	0.999823	B;B;B	0.11235	0.004;0.003;0.003	B;B;B	0.08055	0.003;0.001;0.001	T	0.30822	-0.9965	9	0.11182	T	0.66	-9.8933	5.5017	0.16833	0.6562:0.0:0.0747:0.2692	.	475;424;350	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	A	424;161;475;161	.	ENSP00000355415:T424A	T	+	1	0	FBXO18	5995774	0.027000	0.19231	0.836000	0.33094	0.665000	0.39181	0.569000	0.23638	0.366000	0.24427	0.402000	0.26972	ACA	FBXO18	-	NULL	ENSG00000134452		0.413	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1		0	105	0	A	NM_032807		5955768	1			no_errors	ENST00000379999	ensembl	human	known	74_37	missense	41.67	35	25	SNP	0.036	G	G	5955768	A	G	5955768	3	3	123	1	0	0	0	0	1	0	0	0	5753	159	6	4	1458	4	FBXO18	10	5955768	Missense_Mutation	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09		5955768	129578979	109	32030											
PTCHD3	374308	genome.wustl.edu	37	chr10	27702261	27702261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccattcctaggctgccccCcaagatgtatcctccgaaga	9	8	8	16	1	0	2	0	0	0	2	3	3	3	2	7	1	1	2	7	1	4	3	rs148676840|rs551131667	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr10:27702261C>G	ENST00000438700.3	-	1	1036	c.919G>C	c.(919-921)Ggg>Cgg	p.G307R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	307					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGGCTGCCCCCCAAGATGTAT	0.592																																																	0													65	67	67					10																	27702261		2203	4300	6503	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.919G>C	10.37:g.27702261C>G	ENSP00000417658:p.Gly307Arg		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.G307R	ENST00000438700.3	37	c.919	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962581	0.53400	.	.	ENSG00000182077	ENST00000438700	D	0.85339	-1.97	3.86	2.95	0.34219	.	1.236440	0.05785	N	0.609346	D	0.90700	0.7082	M	0.71581	2.175	0.09310	N	0.999997	D	0.55385	0.971	P	0.59595	0.86	T	0.76857	-0.2804	10	0.42905	T	0.14	-5.978	11.764	0.51920	0.0:0.9122:0.0:0.0878	.	307	Q3KNS1	PTHD3_HUMAN	R	307	ENSP00000417658:G307R	ENSP00000417658:G307R	G	-	1	0	PTCHD3	27742267	0.014000	0.17966	0.004000	0.12327	0.002000	0.02628	1.799000	0.38824	0.962000	0.38057	0.561000	0.74099	GGG	PTCHD3	-	pfam_Patched	ENSG00000182077		0.592	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3		0	33	0	C	XM_370541		27702261	-1			no_errors	ENST00000438700	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.021	G	G	27702261	C	G	27702261	3	3	123	1	0	0	0	0	1	0	0	0	12776	623	22	5	1400	5	PTCHD3	10	27702261	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	21746493	27702261	107832486	110	32031											
ADO	84890	genome.wustl.edu	37	chr10	64565449	64565449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggacatcctggccccGccctacgacccggacgatgg	6	7	11	17	4	0	0	0	0	0	0	2	4	2	2	6	4	1	0	6	4	1	2	rs370967109		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr10:64565449G>A	ENST00000373783.1	+	1	934	c.630G>A	c.(628-630)ccG>ccA	p.P210P	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	210						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCCTGGCCCCGCCCTACGACC	0.701																																																	0								G		1,4397		0,1,2198	22	21	21		630	0.8	1	10		21	0,8594		0,0,4297	no	coding-synonymous	ADO	NM_032804.5		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		210/271	64565449	1,12991	2199	4297	6496	SO:0001819	synonymous_variant	0			BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"cysteamine dioxygenase"	611392	"chromosome 10 open reading frame 22"	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.630G>A	10.37:g.64565449G>A			B1AL29	Silent	SNP	pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.P210	ENST00000373783.1	37	c.630	CCDS7266.2	10																																																																																			ADO	-	pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	ENSG00000181915		0.701	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADO	HGNC	protein_coding	OTTHUMT00000048243.2		0	24	0	G	NM_032804		64565449	1			no_errors	ENST00000373783	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.970	A	A	64565449	G	A	64565449	2	1	123	1	0	0	0	0	0	0	0	1	325	1074	38	1		1	ADO	10	64565449	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	36863188	64565449	70969298	111	32032											
KIAA0913	23053	genome.wustl.edu	37	chr10	75557625	75557625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	acacttctacttcgagctggCgaagacagtgctgatcaagg	11	9	11	10	2	2	2	1	1	1	1	3	4	2	2	0	2	3	2	0	2	3	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr10:75557625C>A	ENST00000605216.1	+	19	3951	c.3734C>A	c.(3733-3735)gCg>gAg	p.A1245E	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A1212E|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A1250E|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.A1245E|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.A1250E	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1245							zinc ion binding (GO:0008270)										TTCGAGCTGGCGAAGACAGTG	0.592																																																	0													76	83	81					10																	75557625		2093	4216	6309	SO:0001583	missense	0			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.3734C>A	10.37:g.75557625C>A	ENSP00000474748:p.Ala1245Glu		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.A1250E	ENST00000605216.1	37	c.3749		10	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994170	0.74703	.	.	ENSG00000214655	ENST00000398706	T	0.63744	-0.06	5.74	4.83	0.62350	.	0.000000	0.64402	U	0.000005	T	0.80325	0.4602	M	0.81497	2.545	0.58432	D	0.999997	B;D;B;B	0.89917	0.317;1.0;0.317;0.317	B;D;B;B	0.87578	0.095;0.998;0.136;0.095	D	0.83764	0.0216	10	0.87932	D	0	-6.4233	16.1693	0.81790	0.1345:0.8655:0.0:0.0	.	1245;1257;1245;1250	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	K0913_HUMAN;.;.;.	E	1250	ENSP00000381693:A1250E	ENSP00000381693:A1250E	A	+	2	0	KIAA0913	75227631	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.404000	0.79996	1.426000	0.47256	0.655000	0.94253	GCG	ZSWIM8	-	NULL	ENSG00000214655		0.592	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1		0	26	0	C	NM_001242487		75557625	1			no_errors	ENST00000398706	ensembl	human	known	74_37	missense	14.29	12	2	SNP	1.000	A	A	75557625	C	A	75557625	3	1	123	1	0	0	0	0	1	0	0	0	8227	768	27	2	3823	2	KIAA0913	10	75557625	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	10992176	75557625	59977122	112	32033											
BTBD16	118663	genome.wustl.edu	37	chr10	124096188	124096188	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttgaccacgtcatcctgCaaaagccatgcaagtgttca	11	9	10	11	1	2	1	2	1	0	0	3	1	3	1	3	1	3	4	3	1	3	2	rs560247372		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr10:124096188C>A	ENST00000260723.4	+	15	1694	c.1443C>A	c.(1441-1443)tgC>tgA	p.C481*	BTBD16_ENST00000368994.2_Nonsense_Mutation_p.C482*	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	481										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)				CGTCATCCTGCAAAAGCCATG	0.483																																																	0													144	105	118					10																	124096188		2203	4300	6503	SO:0001587	stop_gained	0			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.1443C>A	10.37:g.124096188C>A	ENSP00000260723:p.Cys481*		A6NM63|Q4VXL1|Q96LN0	Nonsense_Mutation	SNP	superfamily_BTB/POZ_fold	p.C482*	ENST00000260723.4	37	c.1446	CCDS31301.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.899874	0.97081	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	.	.	.	5.64	3.8	0.43715	.	0.151008	0.40469	N	0.001100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.9855	8.9507	0.35788	0.0:0.8289:0.0:0.1711	.	.	.	.	X	481;482	.	ENSP00000260723:C481X	C	+	3	2	BTBD16	124086178	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	2.430000	0.44766	0.750000	0.32877	0.655000	0.94253	TGC	BTBD16	-	NULL	ENSG00000138152		0.483	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BTBD16	HGNC	protein_coding	OTTHUMT00000050780.3		0	17	0	C	NM_144587		124096188	1			no_errors	ENST00000368994	ensembl	human	known	74_37	nonsense	10.53	17	2	SNP	1.000	A	A	124096188	C	A	124096188	4	1	123	1	0	0	0	0	0	1	0	0	1545	718	25	3	1497	3	BTBD16	10	124096188	Nonsense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	48538563	124096188	11438559	113	32034											
OR4S1	256148	genome.wustl.edu	37	chr11	48328372	48328372	+	Missense_Mutation	SNP	A	A	C	1	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	taggtctcatcgtggtggccAacagcggtatgatttcttta	8	14	11	8	2	2	1	1	1	2	0	4	1	2	1	1	4	2	1	1	4	4	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:48328372A>C	ENST00000319988.1	+	1	598	c.598A>C	c.(598-600)Aac>Cac	p.N200H		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CGTGGTGGCCAACAGCGGTAT	0.453																																																	0													182	145	157					11																	48328372		2201	4298	6499	SO:0001583	missense	0			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.598A>C	11.37:g.48328372A>C	ENSP00000321447:p.Asn200His		Q6IFB4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N200H	ENST00000319988.1	37	c.598	CCDS31488.1	11	.	.	.	.	.	.	.	.	.	.	A	16.29	3.082701	0.55861	.	.	ENSG00000176555	ENST00000319988	T	0.00152	8.66	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	M	0.92555	3.32	0.38083	D	0.936734	D	0.89917	1.0	D	0.97110	1.0	T	0.61053	-0.7140	9	0.87932	D	0	.	11.4113	0.49927	1.0:0.0:0.0:0.0	.	200	Q8NGB4	OR4S1_HUMAN	H	200	ENSP00000321447:N200H	ENSP00000321447:N200H	N	+	1	0	OR4S1	48284948	0.000000	0.05858	1.000000	0.80357	0.368000	0.29767	0.432000	0.21461	2.020000	0.59435	0.533000	0.62120	AAC	OR4S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176555		0.453	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	HGNC	protein_coding	OTTHUMT00000390556.1		0	103	0	A	NM_001004725		48328372	1			no_errors	ENST00000319988	ensembl	human	known	74_37	missense	23.85	82	26	SNP	1.000	C	C	48328372	A	C	48328372	3	2	123	1	0	0	0	0	1	0	0	0	11121	130	5	4	600	4	OR4S1	11	48328372	Missense_Mutation	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09		48328372	86678144	114	32035											
OR4C15	81309	genome.wustl.edu	37	chr11	55322499	55322499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttgtacccgttactggaGcttgcctgcactgatactca	8	12	9	12	1	1	1	1	1	0	0	1	3	1	2	2	1	6	4	2	1	3	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:55322499G>A	ENST00000314644.2	+	1	717	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CGTTACTGGAGCTTGCCTGCA	0.433										HNSCC(20;0.049)																																							0													134	91	105					11																	55322499		2201	4296	6497	SO:0001819	synonymous_variant	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.717G>A	11.37:g.55322499G>A			Q6IFE2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E239	ENST00000314644.2	37	c.717	CCDS31501.1	11																																																																																			OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181939		0.433	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1		0	41	0	G	NM_001001920		55322499	1			no_errors	ENST00000314644	ensembl	human	known	74_37	silent	37.88	41	25	SNP	0.274	A	A	55322499	G	A	55322499	2	1	123	1	0	0	0	0	0	0	0	1	11087	962	34	3		3	OR4C15	11	55322499	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	6994127	55322499	79684017	115	32036											
TMEM132A	54972	genome.wustl.edu	37	chr11	60704101	60704101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgagagtgggggaggagggGaggcccctaccctggcccct	6	5	19	11	0	0	1	0	1	0	1	0	5	0	4	5	7	1	0	5	7	1	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:60704101G>A	ENST00000453848.2	+	11	2952	c.2794G>A	c.(2794-2796)Gag>Aag	p.E932K	TMEM132A_ENST00000005286.4_Missense_Mutation_p.E933K			Q24JP5	T132A_HUMAN	transmembrane protein 132A	932	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						GGGAGGAGGGGAGGCCCCTAC	0.721																																																	0													8	11	10					11																	60704101		2153	4234	6387	SO:0001583	missense	0			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.2794G>A	11.37:g.60704101G>A	ENSP00000405823:p.Glu932Lys		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.E933K	ENST00000453848.2	37	c.2797	CCDS44618.1	11	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120287	0.37436	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.05996	3.36;3.36	4.23	4.23	0.50019	.	1.273180	0.05259	N	0.515344	T	0.09949	0.0244	L	0.40543	1.245	0.25431	N	0.988183	B;B	0.25609	0.058;0.13	B;B	0.24701	0.055;0.055	T	0.30504	-0.9976	10	0.87932	D	0	-10.9101	14.4964	0.67691	0.0:0.0:1.0:0.0	.	932;933	Q24JP5;Q24JP5-2	T132A_HUMAN;.	K	683;932;933	ENSP00000405823:E932K;ENSP00000005286:E933K	ENSP00000005286:E933K	E	+	1	0	TMEM132A	60460677	1.000000	0.71417	0.293000	0.24932	0.871000	0.50021	3.851000	0.55926	2.336000	0.79503	0.655000	0.94253	GAG	TMEM132A	-	NULL	ENSG00000006118		0.721	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1		0	13	0	G	NM_017870		60704101	1			no_errors	ENST00000005286	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.998	A	A	60704101	G	A	60704101	3	1	123	1	0	0	0	0	1	0	0	0	16092	1175	41	3	2839	3	TMEM132A	11	60704101	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	5381602	60704101	74302415	116	32037											
SLC22A9	114571	genome.wustl.edu	37	chr11	63176300	63176300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctttcctcctccttcCtgaaaccaggaacaagcctc	8	12	5	16	0	0	1	0	1	0	0	5	2	4	2	6	1	4	1	6	1	3	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:63176300C>T	ENST00000279178.3	+	9	1799	c.1550C>T	c.(1549-1551)cCt>cTt	p.P517L	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	517					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTCCTCCTTCCTGAAACCAGG	0.502																																																	0													106	100	102					11																	63176300		2201	4298	6499	SO:0001583	missense	0			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1550C>T	11.37:g.63176300C>T	ENSP00000279178:p.Pro517Leu		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P517L	ENST00000279178.3	37	c.1550	CCDS8043.1	11	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059335	0.55325	.	.	ENSG00000149742	ENST00000279178	T	0.61274	0.12	2.63	2.63	0.31362	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81645	0.4866	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85943	0.1459	10	0.72032	D	0.01	.	10.974	0.47454	0.0:1.0:0.0:0.0	.	517	Q8IVM8	S22A9_HUMAN	L	517	ENSP00000279178:P517L	ENSP00000279178:P517L	P	+	2	0	SLC22A9	62932876	0.997000	0.39634	0.991000	0.47740	0.770000	0.43624	3.928000	0.56506	1.492000	0.48499	0.205000	0.17691	CCT	SLC22A9	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000149742		0.502	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	HGNC	protein_coding	OTTHUMT00000396371.1		0	61	0	C	NM_080866		63176300	1			no_errors	ENST00000279178	ensembl	human	known	74_37	missense	26.76	52	19	SNP	1.000	T	T	63176300	C	T	63176300	3	4	123	1	0	0	0	0	1	0	0	0	14506	681	24	3	1584	3	SLC22A9	11	63176300	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	2472199	63176300	71830216	117	32038											
PELI3	246330	genome.wustl.edu	37	chr11	66235713	66235713	+	Silent	SNP	C	C	A	0	0	0	1	1	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	ggtgaagatgcgcagccaggCgaggagcccatcaagtatgg	11	5	16	9	2	1	2	1	1	0	1	1	4	1	3	2	4	3	2	2	4	3	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:66235713C>A	ENST00000320740.7	+	2	274	c.114C>A	c.(112-114)ggC>ggA	p.G38G	PELI3_ENST00000524466.1_Silent_p.G38G|MRPL11_ENST00000524576.1_5'Flank|PELI3_ENST00000349459.6_Silent_p.G38G|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	38					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CGCAGCCAGGCGAGGAGCCCA	0.612																																																	0													71	66	67					11																	66235713		2200	4295	6495	SO:0001819	synonymous_variant	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.114C>A	11.37:g.66235713C>A			Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	pfam_Pellino_fam	p.G38	ENST00000320740.7	37	c.114	CCDS31615.1	11																																																																																			PELI3	-	NULL	ENSG00000174516		0.612	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1		0	25	0	C	NM_145065		66235713	1			no_errors	ENST00000320740	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.994	A	A	66235713	C	A	66235713	2	1	123	1	0	0	0	0	0	0	0	1	11762	755	27	2		2	PELI3	11	66235713	Silent	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	3059413	66235713	68770803	118	32039											
LRFN4	78999	genome.wustl.edu	37	chr11	66627517	66627517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcagcgcagctgctctctgGacctgggagatgccgggtgc	5	7	16	13	3	1	1	0	0	1	1	2	3	1	2	2	3	5	4	2	3	0	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:66627517G>A	ENST00000309602.4	+	2	2002	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	587						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CTGCTCTCTGGACCTGGGAGA	0.731																																																	0													4	6	5					11																	66627517		1964	3833	5797	SO:0001583	missense	0			BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1759G>A	11.37:g.66627517G>A	ENSP00000312535:p.Asp587Asn		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D587N	ENST00000309602.4	37	c.1759	CCDS8153.1	11	.	.	.	.	.	.	.	.	.	.	g	13.05	2.122421	0.37436	.	.	ENSG00000173621	ENST00000309602	T	0.57907	0.37	4.72	3.81	0.43845	.	0.000000	0.44688	D	0.000436	T	0.45716	0.1356	L	0.52011	1.625	0.80722	D	1	B	0.24258	0.1	B	0.20955	0.032	T	0.44847	-0.9301	10	0.66056	D	0.02	.	10.6353	0.45560	0.096:0.0:0.904:0.0	.	587	Q6PJG9	LRFN4_HUMAN	N	587	ENSP00000312535:D587N	ENSP00000312535:D587N	D	+	1	0	LRFN4	66384093	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	3.397000	0.52572	0.991000	0.38814	0.401000	0.26515	GAC	LRFN4	-	NULL	ENSG00000173621		0.731	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN4	HGNC	protein_coding	OTTHUMT00000393127.1		0	70	0	G	NM_024036		66627517	1			no_errors	ENST00000309602	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	A	A	66627517	G	A	66627517	3	1	123	1	0	0	0	0	1	0	0	0	8975	1174	41	3	1765	3	LRFN4	11	66627517	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	391804	66627517	68378999	119	32040											
ANKRD13D	338692	genome.wustl.edu	37	chr11	67068552	67068552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctaatggccatcagcaacGctcactttgccaagctgcgc	10	8	8	15	2	2	0	2	0	0	0	2	0	2	0	3	1	5	3	3	1	3	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:67068552G>A	ENST00000447274.2	+	11	2079	c.904G>A	c.(904-906)Gct>Act	p.A302T	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.A389T|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.A302T|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.A302T|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.A39T|SSH3_ENST00000308298.7_5'Flank|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	302						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.A302T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CATCAGCAACGCTCACTTTGC	0.607																																																	1	Substitution - Missense(1)	ovary(1)											156	129	138					11																	67068552		2200	4295	6495	SO:0001583	missense	0			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.904G>A	11.37:g.67068552G>A	ENSP00000402616:p.Ala302Thr		D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.A389T	ENST00000447274.2	37	c.1165		11	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477916	0.63849	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.28192	0.835	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.82;0.743	D;P;B	0.79108	0.992;0.496;0.362	T	0.25950	-1.0117	10	0.22706	T	0.39	-18.6775	12.8467	0.57833	0.0:0.0:0.8369:0.1631	.	39;389;302	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	T	302;389;302;302;39	ENSP00000402616:A302T;ENSP00000427130:A389T;ENSP00000310874:A302T;ENSP00000444404:A302T;ENSP00000443977:A39T	ENSP00000310874:A302T	A	+	1	0	ANKRD13D	66825128	1.000000	0.71417	0.968000	0.41197	0.762000	0.43233	9.630000	0.98420	2.517000	0.84864	0.561000	0.74099	GCT	ANKRD13D	-	pfam_ANKRD13	ENSG00000172932		0.607	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2		0	15	0	G	NM_207354		67068552	1			no_errors	ENST00000511455	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	67068552	G	A	67068552	3	1	123	1	0	0	0	0	1	0	0	0	644	1087	38	1	1207	1	ANKRD13D	11	67068552	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	441035	67068552	67937964	120	32041											
MAP6	4135	genome.wustl.edu	37	chr11	75298556	75298556	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctttacaggctcagagaccaTggaaccttgattctttatgg	10	13	9	9	0	2	2	1	1	1	1	2	4	2	3	2	3	2	1	2	3	3	6			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:75298556T>C	ENST00000304771.3	-	4	2740	c.1990A>G	c.(1990-1992)Atg>Gtg	p.M664V	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Missense_Mutation_p.M335V	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	664	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TCAGAGACCATGGAACCTTGA	0.493																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)												0													170	155	160					11																	75298556		2200	4293	6493	SO:0001583	missense	0			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1990A>G	11.37:g.75298556T>C	ENSP00000307093:p.Met664Val		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	pfam_MAP6/FAM154	p.M664V	ENST00000304771.3	37	c.1990	CCDS31641.1	11	.	.	.	.	.	.	.	.	.	.	T	0.031	-1.336881	0.01287	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.39056	1.1	5.01	-5.8	0.02347	.	1.798120	0.02690	N	0.110485	T	0.14184	0.0343	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40059	-0.9583	10	0.02654	T	1	0.1771	8.707	0.34360	0.0:0.1752:0.2176:0.6072	.	664	Q96JE9	MAP6_HUMAN	V	664;335;335	ENSP00000307093:M664V	ENSP00000307093:M664V	M	-	1	0	MAP6	74976204	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.306000	0.01133	-1.099000	0.03034	-0.242000	0.12053	ATG	MAP6	-	NULL	ENSG00000171533		0.493	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP6	HGNC	protein_coding	OTTHUMT00000383527.1		0	49	0	T	NM_033063		75298556	-1			no_errors	ENST00000304771	ensembl	human	known	74_37	missense	51.52	16	17	SNP	0.000	C	C	75298556	T	C	75298556	3	2	123	1	0	0	0	0	1	0	0	0	9302	1464	51	4	455	4	MAP6	11	75298556	Missense_Mutation	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	8230004	75298556	59707960	121	32042											
MYO7A	4647	genome.wustl.edu	37	chr11	76883862	76883862	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	cggtcactggagctgctgatGcgcacgctgggtgcctgcca	5	8	15	13	3	1	1	1	1	0	0	1	2	1	2	2	3	5	4	2	3	0	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:76883862G>C	ENST00000409709.3	+	16	2138	c.1866G>C	c.(1864-1866)atG>atC	p.M622I	MYO7A_ENST00000458637.2_Missense_Mutation_p.M622I|MYO7A_ENST00000409619.2_Missense_Mutation_p.M611I|MYO7A_ENST00000409893.1_Missense_Mutation_p.M622I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	622	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCTGCTGATGCGCACGCTGG	0.657																																																	0													20	24	23					11																	76883862		2028	4091	6119	SO:0001583	missense	0			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.1866G>C	11.37:g.76883862G>C	ENSP00000386331:p.Met622Ile		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.M622I	ENST00000409709.3	37	c.1866	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702241	0.88924	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.77	4.77	0.60923	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	M	0.83012	2.62	0.80722	D	1	P;P;D	0.55800	0.927;0.918;0.973	P;P;D	0.69654	0.759;0.835;0.965	D	0.95267	0.8374	10	0.66056	D	0.02	.	18.1567	0.89693	0.0:0.0:1.0:0.0	.	622;622;622	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	I	622;622;622;611;621;621;498;621	ENSP00000386331:M622I;ENSP00000386689:M622I;ENSP00000392185:M622I;ENSP00000386635:M611I	ENSP00000345075:M498I	M	+	3	0	MYO7A	76561510	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.280000	0.95786	2.368000	0.80403	0.549000	0.68633	ATG	MYO7A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000137474		0.657	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1		0	63	0	G	NM_000260		76883862	1			no_errors	ENST00000409709	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C	C	76883862	G	C	76883862	3	2	123	1	0	0	0	0	1	0	0	0	10120	1319	46	5	1924	5	MYO7A	11	76883862	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	1585306	76883862	58122654	122	32043											
PAK1	5058	genome.wustl.edu	37	chr11	77054946	77054946	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcagctctttcttgggctGctgctgaagattcatctgct	7	15	9	10	0	5	2	2	1	3	1	5	2	5	2	0	1	4	5	0	1	2	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:77054946G>A	ENST00000356341.3	-	10	1447	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	PAK1_ENST00000528203.1_Nonsense_Mutation_p.Q208*|PAK1_ENST00000278568.4_Nonsense_Mutation_p.Q306*|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_Nonsense_Mutation_p.Q306*	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TTCTTGGGCTGCTGCTGAAGA	0.428																																																	0													211	182	192					11																	77054946		2200	4292	6492	SO:0001587	stop_gained	0			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.916C>T	11.37:g.77054946G>A	ENSP00000348696:p.Gln306*		O75561|Q13567|Q32M53|Q32M54|Q86W79	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.Q306*	ENST00000356341.3	37	c.916	CCDS8250.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.905609|10.905609	0.99486|0.99486	.|.	.|.	ENSG00000149269|ENSG00000149269	ENST00000533285|ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.82176|.	0.4980|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82829|.	-0.0264|.	3|.	.|0.66056	.|D	.|0.02	.|.	20.2789|20.2789	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	27|306;306;306;208	.|.	.|ENSP00000278568:Q306X	A|Q	-|-	2|1	0|0	PAK1|PAK1	76732594|76732594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.444000|9.444000	0.97578|0.97578	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GCA|CAG	PAK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000149269		0.428	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1	HGNC	protein_coding	OTTHUMT00000382083.2		0	53	0	G	NM_002576		77054946	-1			no_errors	ENST00000278568	ensembl	human	known	74_37	nonsense	51.52	16	17	SNP	1.000	A	A	77054946	G	A	77054946	4	1	123	1	0	0	0	0	0	1	0	0	11438	1328	46	3	798	3	PAK1	11	77054946	Nonsense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	171084	77054946	57951570	123	32044											
ANKRD42	338699	genome.wustl.edu	37	chr11	82921358	82921358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaggctcttataatgaatgGagcaaatctgacagcccagg	13	10	10	8	0	2	2	0	2	2	0	2	3	2	3	1	3	2	2	1	3	5	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:82921358G>T	ENST00000393392.2	+	4	425	c.263G>T	c.(262-264)gGa>gTa	p.G88V	RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G116V|ANKRD42_ENST00000528722.1_Missense_Mutation_p.G3V|ANKRD42_ENST00000526731.1_Missense_Mutation_p.G116V|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G116V|ANKRD42_ENST00000393389.3_Missense_Mutation_p.G116V|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G116V	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	88					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATAATGAATGGAGCAAATCTG	0.388																																																	0													105	106	105					11																	82921358		2203	4300	6503	SO:0001583	missense	0			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.263G>T	11.37:g.82921358G>T	ENSP00000377051:p.Gly88Val		Q49A49	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G88V	ENST00000393392.2	37	c.263	CCDS8265.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365893	0.82463	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000528722;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;D;T;T;T;T;T	0.86865	-0.72;-2.18;-0.72;-0.72;-0.72;-0.72;-0.72	5.89	5.89	0.94794	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000006	D	0.96144	0.8743	H	0.96777	3.88	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	0.97028	0.9748	9	.	.	.	-8.9873	19.0291	0.92948	0.0:0.0:1.0:0.0	.	116;116;381;207;88	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	V	435;116;3;116;116;116;88;116	ENSP00000377049:G116V;ENSP00000432375:G3V;ENSP00000260047:G116V;ENSP00000433585:G116V;ENSP00000434666:G116V;ENSP00000377051:G88V;ENSP00000435790:G116V	.	G	+	2	0	ANKRD42	82599006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.449000	0.73473	2.783000	0.95769	0.655000	0.94253	GGA	ANKRD42	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137494		0.388	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1		0	62	0	G	NM_182603		82921358	1			no_errors	ENST00000393392	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	82921358	G	T	82921358	3	4	123	1	0	0	0	0	1	0	0	0	670	1174	41	3	277	3	ANKRD42	11	82921358	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	5866412	82921358	52085158	124	32045											
PPP2R1B	5519	genome.wustl.edu	37	chr11	111635631	111635631	+	Splice_Site	SNP	T	T	A	0	1	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	tcttcatcataaattgtatcTggaagtgacaacaacaggac	15	11	7	8	0	4	1	2	1	2	0	4	3	4	3	0	2	2	1	0	2	6	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:111635631T>A	ENST00000527614.1	-	3	271		c.e3-2		PPP2R1B_ENST00000427203.2_Splice_Site|PPP2R1B_ENST00000393055.2_Splice_Site|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000311129.5_Splice_Site|PPP2R1B_ENST00000341980.6_Splice_Site	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta						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)		AAATTGTATCTGGAAGTGACA	0.473																																																	0													76	67	70					11																	111635631		2201	4297	6498	SO:0001630	splice_region_variant	0			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.206-2A>T	11.37:g.111635631T>A			A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Splice_Site	SNP	-	e3-2	ENST00000527614.1	37	c.206-2	CCDS8349.1	11	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161451	0.78226	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000527614;ENST00000341980;ENST00000393055;ENST00000531373	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4474	0.61148	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPP2R1B	111140841	1.000000	0.71417	0.988000	0.46212	0.862000	0.49288	7.481000	0.81124	2.115000	0.64714	0.533000	0.62120	.	PPP2R1B	-	-	ENSG00000137713		0.473	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PPP2R1B	HGNC	protein_coding	OTTHUMT00000391298.1		0	9	0	T	NM_002716	Intron	111635631	-1			no_errors	ENST00000311129	ensembl	human	known	74_37	splice_site	45.45	6	5	SNP	0.997	A	A	111635631	T	A	111635631	5	1	123	1	0	0	0	0	0	0	1	0	12425	1594	55	5	1876	5	PPP2R1B	11	111635631	Splice_Site	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	28714273	111635631	23370885	125	32046											
TMEM25	84866	genome.wustl.edu	37	chr11	118404171	118404171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggaagtgccactgctggGcattgttgtggctgctgggc	4	11	18	8	0	0	0	0	0	0	0	0	1	0	1	1	5	3	5	1	5	1	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:118404171G>A	ENST00000313236.5	+	5	763	c.710G>A	c.(709-711)gGc>gAc	p.G237D	RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000544878.1_Missense_Mutation_p.G140D|RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000359862.4_Intron|TMEM25_ENST00000442938.2_Intron|TMEM25_ENST00000524725.1_Intron|TMEM25_ENST00000411589.2_Intron|RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000354284.4_Missense_Mutation_p.G237D|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000533102.1_Missense_Mutation_p.G237D|TMEM25_ENST00000529001.1_3'UTR|RP11-770J1.3_ENST00000525992.2_RNA	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	237						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCACTGCTGGGCATTGTTGTG	0.597																																																	0													79	77	77					11																	118404171		2200	4295	6495	SO:0001583	missense	0			AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"Immunoglobulin superfamily / C2-set domain containing"	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.710G>A	11.37:g.118404171G>A	ENSP00000315635:p.Gly237Asp		A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like_dom	p.G237D	ENST00000313236.5	37	c.710	CCDS8398.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142529	0.77888	.	.	ENSG00000149582	ENST00000528373;ENST00000544878;ENST00000354284;ENST00000533102;ENST00000313236	T;T;T;T;T	0.63744	-0.06;0.74;1.28;1.24;1.4	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	L	0.29908	0.895	0.48452	D	0.999656	D;D;D;D;D	0.89917	1.0;0.997;0.999;1.0;1.0	D;P;D;D;D	0.77004	0.983;0.888;0.922;0.983;0.989	T	0.71652	-0.4528	10	0.87932	D	0	-22.3836	14.3478	0.66678	0.0:0.1482:0.8518:0.0	.	140;237;237;237;237	F5H294;Q86YD3;B7Z4E4;Q86YD3-4;E9PKP3	.;TMM25_HUMAN;.;.;.	D	140;140;237;237;237	ENSP00000432040:G140D;ENSP00000439408:G140D;ENSP00000346237:G237D;ENSP00000431548:G237D;ENSP00000315635:G237D	ENSP00000315635:G237D	G	+	2	0	TMEM25	117909381	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	5.647000	0.67923	2.769000	0.95229	0.563000	0.77884	GGC	TMEM25	-	NULL	ENSG00000149582		0.597	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM25	HGNC	protein_coding	OTTHUMT00000389266.1		0	48	0	G	NM_032780		118404171	1			no_errors	ENST00000533102	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	118404171	G	A	118404171	3	1	123	1	0	0	0	0	1	0	0	0	16197	1203	42	3	724	3	TMEM25	11	118404171	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	6768540	118404171	16602345	126	32047											
VWF	7450	genome.wustl.edu	37	chr12	6167105	6167105	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggcgttcccgaagtcctCcacccggggctccgccagcc	5	5	11	20	4	0	0	0	0	0	0	4	1	4	0	8	3	1	2	8	3	1	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:6167105C>A	ENST00000261405.5	-	14	1893	c.1639G>T	c.(1639-1641)Gag>Tag	p.E547*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	547	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)	CCGAAGTCCTCCACCCGGGGC	0.647																																																	0													58	61	60					12																	6167105		2203	4300	6503	SO:0001587	stop_gained	0				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.1639G>T	12.37:g.6167105C>A	ENSP00000261405:p.Glu547*		Q8TCE8|Q99806	Nonsense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.E547*	ENST00000261405.5	37	c.1639	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.954913	0.97960	.	.	ENSG00000110799	ENST00000261405	.	.	.	4.94	4.94	0.65067	.	0.197000	0.24424	N	0.038641	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	17.3452	0.87308	0.0:1.0:0.0:0.0	.	.	.	.	X	547	.	ENSP00000261405:E547X	E	-	1	0	VWF	6037366	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	5.736000	0.68597	2.567000	0.86603	0.491000	0.48974	GAG	VWF	-	pirsf_VWF	ENSG00000110799		0.647	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1		0	71	0	C	NM_000552		6167105	-1			no_errors	ENST00000261405	ensembl	human	known	74_37	nonsense	5.75	82	5	SNP	1.000	A	A	6167105	C	A	6167105	4	1	123	1	0	0	0	0	0	1	0	0	17295	864	30	3	6958	3	VWF	12	6167105	Nonsense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09		6167105	127684790	127	32048											
LRP6	4040	genome.wustl.edu	37	chr12	12274319	12274319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgctgcagggtgtggtgGggggtgcaaagtgccggtag	5	9	21	6	1	0	0	0	0	0	0	0	0	0	0	1	6	4	4	1	6	2	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:12274319G>T	ENST00000261349.4	-	23	4659	c.4583C>A	c.(4582-4584)cCc>cAc	p.P1528H	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.P1483H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1528					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)				GGGTGTGGTGGGGGGTGCAAA	0.473																																																	0													106	110	108					12																	12274319		2203	4300	6503	SO:0001583	missense	0			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.4583C>A	12.37:g.12274319G>T	ENSP00000261349:p.Pro1528His		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.P1528H	ENST00000261349.4	37	c.4583	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370003	0.82573	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.98090	-4.1;-4.71	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000009	D	0.98623	0.9539	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99632	1.0986	10	0.87932	D	0	.	20.1821	0.98206	0.0:0.0:1.0:0.0	.	1483;1528	F5H7J9;O75581	.;LRP6_HUMAN	H	1528;1483	ENSP00000261349:P1528H;ENSP00000442472:P1483H	ENSP00000261349:P1528H	P	-	2	0	LRP6	12165586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.220000	0.95180	2.780000	0.95670	0.643000	0.83706	CCC	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6	ENSG00000070018		0.473	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1		0	32	0	G			12274319	-1			no_errors	ENST00000261349	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	12274319	G	T	12274319	3	4	123	1	0	0	0	0	1	0	0	0	8997	1232	43	3	262	3	LRP6	12	12274319	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	6107214	12274319	121577576	128	32049											
CAND1	55832	genome.wustl.edu	37	chr12	67698914	67698914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactgaatgataaatcaaGctcatcgaatttgaagatcg	15	11	7	8	2	3	4	3	3	0	1	5	5	3	4	0	0	1	1	0	0	6	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:67698914G>T	ENST00000545606.1	+	10	1903	c.1466G>T	c.(1465-1467)aGc>aTc	p.S489I		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	489					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GATAAATCAAGCTCATCGAAT	0.363																																																	0													120	110	113					12																	67698914		2203	4300	6503	SO:0001583	missense	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1466G>T	12.37:g.67698914G>T	ENSP00000442318:p.Ser489Ile		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.S489I	ENST00000545606.1	37	c.1466	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711454	0.68730	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.65916	-0.18	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	M	0.87547	2.89	0.80722	D	1	P	0.49358	0.923	P	0.48795	0.59	T	0.79485	-0.1784	9	.	.	.	-9.7144	19.5723	0.95425	0.0:0.0:1.0:0.0	.	489	Q86VP6	CAND1_HUMAN	I	489;489;331	ENSP00000442318:S489I	.	S	+	2	0	CAND1	65985181	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.737000	0.98831	2.695000	0.91970	0.557000	0.71058	AGC	CAND1	-	superfamily_ARM-type_fold	ENSG00000111530		0.363	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1		0	53	0	G	NM_018448		67698914	1			no_errors	ENST00000545606	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T	T	67698914	G	T	67698914	3	4	123	1	0	0	0	0	1	0	0	0	2622	971	34	3	1504	3	CAND1	12	67698914	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	55424595	67698914	66152981	129	32050											
HCFC2	29915	genome.wustl.edu	37	chr12	104458353	104458353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggaagatggcggctcccagCctcctcaactggaggcgagt	8	6	15	12	2	1	1	1	0	0	1	3	4	3	3	3	5	2	1	3	5	2	0	rs370124268		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:104458353C>T	ENST00000229330.4	+	1	119	c.15C>T	c.(13-15)agC>agT	p.S5S	GLT8D2_ENST00000548660.1_5'Flank	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	5					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CGGCTCCCAGCCTCCTCAACT	0.701																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													10	13	12					12																	104458353		2183	4264	6447	SO:0001819	synonymous_variant	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.15C>T	12.37:g.104458353C>T			B2R8Q5|C0H5X3	Silent	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S5	ENST00000229330.4	37	c.15	CCDS9097.1	12																																																																																			HCFC2	-	NULL	ENSG00000111727		0.701	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1		0	16	0	C	NM_013320		104458353	1			no_errors	ENST00000229330	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.999	T	T	104458353	C	T	104458353	2	4	123	1	0	0	0	0	0	0	0	1	7020	738	26	3		3	HCFC2	12	104458353	Silent	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	36759439	104458353	29393542	130	32051											
ALDH1L2	160428	genome.wustl.edu	37	chr12	105433542	105433542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccagtgaaaccaagtttgCggatgtcaggatgttcagac	12	10	11	8	1	2	2	2	1	0	1	3	4	3	4	2	2	2	2	2	2	2	2	rs143830632		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:105433542C>T	ENST00000258494.9	-	17	2134	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	665	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACCAAGTTTGCGGATGTCAGG	0.443																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	183	166	172		1994	5.7	1	12	dbSNP_134	172	0,8600		0,0,4300	yes	missense	ALDH1L2	NM_001034173.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	665/924	105433542	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1994G>A	12.37:g.105433542C>T	ENSP00000258494:p.Arg665His		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.R665H	ENST00000258494.9	37	c.1994	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.420098	0.96111	2.27E-4	0.0	ENSG00000136010	ENST00000258494	T	0.17054	2.3	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	L	0.52759	1.655	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.02942	-1.1091	10	0.66056	D	0.02	.	19.8383	0.96670	0.0:1.0:0.0:0.0	.	665	Q3SY69	AL1L2_HUMAN	H	665	ENSP00000258494:R665H	ENSP00000258494:R665H	R	-	2	0	ALDH1L2	103957672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.738000	0.84966	2.683000	0.91414	0.650000	0.86243	CGC	ALDH1L2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH	ENSG00000136010		0.443	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1		0	34	0	C	XM_090294		105433542	-1			no_errors	ENST00000258494	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	105433542	C	T	105433542	3	4	123	1	0	0	0	0	1	0	0	0	495	768	27	1	805	1	ALDH1L2	12	105433542	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	975189	105433542	28418353	131	32052											
ACACB	32	genome.wustl.edu	37	chr12	109675106	109675106	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttacctgggtgctgccaAggtgaaggaaggtgtggaag	9	9	16	7	0	0	1	0	1	0	0	0	3	0	3	3	5	3	1	3	5	5	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:109675106A>C	ENST00000338432.7	+	34	4702	c.4583A>C	c.(4582-4584)aAg>aCg	p.K1528T	ACACB_ENST00000377854.5_Missense_Mutation_p.K1458T|ACACB_ENST00000377848.3_Missense_Mutation_p.K1528T|ACACB_ENST00000543201.1_Missense_Mutation_p.K194T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1528					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)	GGTGCTGCCAAGGTGAAGGAA	0.547																																																	0													169	125	140					12																	109675106		2203	4300	6503	SO:0001583	missense	0			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.4583A>C	12.37:g.109675106A>C	ENSP00000341044:p.Lys1528Thr		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.K1528T	ENST00000338432.7	37	c.4583	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	A	18.55	3.648573	0.67358	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.76	-0.553	0.11815	Acetyl-CoA carboxylase, central domain (1);	0.234553	0.42682	D	0.000680	T	0.63105	0.2483	M	0.83223	2.63	0.36436	D	0.865219	D	0.53885	0.963	P	0.61003	0.882	T	0.71283	-0.4639	10	0.87932	D	0	.	10.8785	0.46925	0.4936:0.0:0.5064:0.0	.	1528	O00763	ACACB_HUMAN	T	1528;1528;1458;759;194	ENSP00000341044:K1528T;ENSP00000367079:K1528T;ENSP00000367085:K1458T;ENSP00000444075:K194T	ENSP00000341044:K1528T	K	+	2	0	ACACB	108159489	0.347000	0.24853	0.974000	0.42286	0.949000	0.60115	1.164000	0.31810	0.010000	0.14839	-0.441000	0.05720	AAG	ACACB	-	pfam_AcCoA_COase_cen	ENSG00000076555		0.547	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1		0	54	0	A	NM_001093		109675106	1			no_errors	ENST00000338432	ensembl	human	known	74_37	missense	13.46	45	7	SNP	0.981	C	C	109675106	A	C	109675106	3	2	123	1	0	0	0	0	1	0	0	0	107	72	3	4	4713	4	ACACB	12	109675106	Missense_Mutation	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	4241564	109675106	24176789	132	32053											
KSR2	283455	genome.wustl.edu	37	chr12	117914382	117914382	+	Silent	SNP	G	G	A	0	0	1	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	catagccagccattctggatGcgcagtttgtcctcccgcct	6	11	9	15	2	1	0	0	0	1	0	3	1	3	1	5	1	3	2	5	1	1	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:117914382G>A	ENST00000339824.5	-	17	3196	c.2469C>T	c.(2467-2469)cgC>cgT	p.R823R	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Silent_p.R794R			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	823	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATTCTGGATGCGCAGTTTGT	0.602																																																	0													55	64	61					12																	117914382		2066	4225	6291	SO:0001819	synonymous_variant	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2469C>T	12.37:g.117914382G>A			A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R823	ENST00000339824.5	37	c.2469		12																																																																																			KSR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000171435		0.602	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2		0	42	0	G	NM_173598		117914382	-1			no_errors	ENST00000339824	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	A	A	117914382	G	A	117914382	2	1	123	1	0	0	0	0	0	0	0	1	8610	1306	46	3		3	KSR2	12	117914382	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	8239276	117914382	15937513	133	32054											
OASL	8638	genome.wustl.edu	37	chr12	121476752	121476752	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctggaggctggtgtgctaTacagttcctgcatcagtgcc	6	11	13	11	0	1	0	1	0	0	0	2	1	2	1	3	3	4	4	3	3	2	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:121476752T>C	ENST00000257570.5	-	1	293	c.23A>G	c.(22-24)tAt>tGt	p.Y8C	OASL_ENST00000339275.5_Missense_Mutation_p.Y8C	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	8					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)					TGGTGTGCTATACAGTTCCTG	0.602																																					Colon(192;517 2041 31392 31913 39966)												0													61	53	56					12																	121476752		2203	4300	6503	SO:0001583	missense	0			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.23A>G	12.37:g.121476752T>C	ENSP00000257570:p.Tyr8Cys		B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup	p.Y8C	ENST00000257570.5	37	c.23	CCDS9211.1	12	.	.	.	.	.	.	.	.	.	.	T	15.15	2.749270	0.49257	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.08984	3.03;3.03	5.66	0.111	0.14619	.	0.685486	0.13395	N	0.391117	T	0.25232	0.0613	M	0.78049	2.395	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77557	0.983;0.99	T	0.04203	-1.0969	10	0.51188	T	0.08	-11.5132	9.8544	0.41077	0.5861:0.0:0.0:0.4139	.	8;8	Q15646-2;Q15646	.;OASL_HUMAN	C	8	ENSP00000257570:Y8C;ENSP00000341125:Y8C	ENSP00000257570:Y8C	Y	-	2	0	OASL	119961135	0.100000	0.21855	0.019000	0.16419	0.001000	0.01503	0.139000	0.16036	0.063000	0.16370	-0.327000	0.08410	TAT	OASL	-	NULL	ENSG00000135114		0.602	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	HGNC	protein_coding	OTTHUMT00000337875.2		0	27	0	T	NM_003733		121476752	-1			no_errors	ENST00000257570	ensembl	human	known	74_37	missense	26.09	17	6	SNP	0.075	C	C	121476752	T	C	121476752	3	2	123	1	0	0	0	0	1	0	0	0	10841	1406	49	4	1545	4	OASL	12	121476752	Missense_Mutation	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	3562370	121476752	12375143	134	32055											
VPS37B	79720	genome.wustl.edu	37	chr12	123351980	123351980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcggtaggtgccagttcggGcagcctggggggcagcgggg	4	5	23	9	3	0	0	0	0	0	0	1	0	0	0	2	9	3	4	2	9	1	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:123351980G>A	ENST00000267202.2	-	4	922	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	181	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)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GCCAGTTCGGGCAGCCTGGGG	0.697																																																	0													53	59	57					12																	123351980		2203	4298	6501	SO:0001583	missense	0			AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"vacuolar protein sorting 37B (yeast)"			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.541C>T	12.37:g.123351980G>A	ENSP00000267202:p.Pro181Ser			Missense_Mutation	SNP	pfam_Mod_r	p.P181S	ENST00000267202.2	37	c.541	CCDS9239.1	12	.	.	.	.	.	.	.	.	.	.	G	9.282	1.048313	0.19827	.	.	ENSG00000139722	ENST00000267202;ENST00000535765;ENST00000371248	T;T;D	0.83250	0.11;0.1;-1.7	5.44	2.58	0.30949	.	0.290535	0.39475	N	0.001344	T	0.73992	0.3658	L	0.45137	1.4	0.36411	D	0.863721	B	0.06786	0.001	B	0.06405	0.002	T	0.67381	-0.5685	10	0.39692	T	0.17	-12.4794	8.2421	0.31667	0.1499:0.4716:0.3785:0.0	.	181	Q9H9H4	VP37B_HUMAN	S	181;179;179	ENSP00000267202:P181S;ENSP00000446075:P179S;ENSP00000360294:P179S	ENSP00000267202:P181S	P	-	1	0	VPS37B	121917933	0.023000	0.18921	0.694000	0.30210	0.059000	0.15707	0.229000	0.17833	0.247000	0.21414	0.655000	0.94253	CCC	VPS37B	-	NULL	ENSG00000139722		0.697	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37B	HGNC	protein_coding	OTTHUMT00000400946.1		0	52	0	G	NM_024667		123351980	-1			no_errors	ENST00000267202	ensembl	human	known	74_37	missense	80.77	10	42	SNP	0.976	A	A	123351980	G	A	123351980	3	1	123	1	0	0	0	0	1	0	0	0	17255	1203	42	3	320	3	VPS37B	12	123351980	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	1875228	123351980	10499915	135	32056											
TDRD3	81550	genome.wustl.edu	37	chr13	61103305	61103305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatggagtatgcaaaaatgtGgaaacctggagatgaatgtt	15	11	12	3	0	0	2	0	1	0	1	0	5	0	4	1	3	2	3	1	3	6	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr13:61103305G>T	ENST00000196169.3	+	11	2455	c.1667G>T	c.(1666-1668)tGg>tTg	p.W556L	TDRD3_ENST00000377894.2_Missense_Mutation_p.W556L|TDRD3_ENST00000535286.1_Missense_Mutation_p.W649L|TDRD3_ENST00000377881.2_Missense_Mutation_p.W556L	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	556	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.W556L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GCAAAAATGTGGAAACCTGGA	0.333																																					Colon(36;164 906 35820 50723)												1	Substitution - Missense(1)	endometrium(1)											63	67	66					13																	61103305		2203	4300	6503	SO:0001583	missense	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1667G>T	13.37:g.61103305G>T	ENSP00000196169:p.Trp556Leu		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.W649L	ENST00000196169.3	37	c.1946	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306113	0.81247	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	5.84	5.84	0.93424	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.152230	0.64402	D	0.000008	T	0.22205	0.0535	L	0.47078	1.49	0.80722	D	1	P;P;D	0.54047	0.661;0.946;0.964	B;B;P	0.58013	0.2;0.243;0.831	T	0.00007	-1.2488	10	0.87932	D	0	-5.7463	20.5276	0.99231	0.0:0.0:1.0:0.0	.	649;555;556	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	L	556;556;556;649	ENSP00000196169:W556L;ENSP00000367113:W556L;ENSP00000367126:W556L;ENSP00000440190:W649L	ENSP00000196169:W556L	W	+	2	0	TDRD3	60001306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.432000	0.90288	2.937000	0.99478	0.650000	0.86243	TGG	TDRD3	-	pfam_Tudor,pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor	ENSG00000083544		0.333	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2		0	44	0	G	NM_030794		61103305	1			no_errors	ENST00000535286	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	61103305	G	T	61103305	3	4	123	1	0	0	0	0	1	0	0	0	15779	1357	47	3	1988	3	TDRD3	13	61103305	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09		61103305	54066573	136	32057											
OXA1L	5018	genome.wustl.edu	37	chr14	23239003	23239003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtttgtattttccaggtaCagtctttgcccgctgcctga	6	16	9	10	1	1	1	0	1	1	0	2	1	2	1	3	1	3	4	3	1	3	7			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr14:23239003C>T	ENST00000604262.1	+	4	466	c.443C>T	c.(442-444)aCa>aTa	p.T148I	OXA1L_ENST00000358043.5_Missense_Mutation_p.T132I|OXA1L_ENST00000412791.1_Missense_Mutation_p.T148I|OXA1L_ENST00000285848.5_Missense_Mutation_p.T208I			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	148					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		TTTCCAGGTACAGTCTTTGCC	0.468																																																	0													534	522	526					14																	23239003		2203	4300	6503	SO:0001583	missense	0				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.443C>T	14.37:g.23239003C>T	ENSP00000474623:p.Thr148Ile		B4DPA2	Missense_Mutation	SNP	pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C	p.T208I	ENST00000604262.1	37	c.623		14	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044216	0.93685	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.58210	0.35;0.53;0.38	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;0.991;1.0	D;D;D	0.97110	1.0;0.987;1.0	T	0.82396	-0.0478	10	0.87932	D	0	-17.099	19.2492	0.93917	0.0:1.0:0.0:0.0	.	148;148;208	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	I	208;17;148;132	ENSP00000285848:T208I;ENSP00000387601:T148I;ENSP00000350740:T132I	ENSP00000285848:T208I	T	+	2	0	OXA1L	22308843	1.000000	0.71417	0.982000	0.44146	0.955000	0.61496	6.343000	0.72986	2.840000	0.97914	0.655000	0.94253	ACA	OXA1L	-	pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C	ENSG00000155463		0.468	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	OXA1L	HGNC	protein_coding	OTTHUMT00000468876.1		0	39	0	C	NM_005015		23239003	1			no_errors	ENST00000285848	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	23239003	C	T	23239003	3	4	123	1	0	0	0	0	1	0	0	0	11367	478	17	3	637	3	OXA1L	14	23239003	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09		23239003	84110537	137	32058											
IPO4	79711	genome.wustl.edu	37	chr14	24657980	24657981	+	In_Frame_Ins	INS	-	-	CGG																															ccgtaggagctgctctagccINScggctgactccatggcagca																										TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr14:24657980_24657981insCGG	ENST00000354464.6	-	1	189_190	c.13_14insCCG	c.(13-15)ggg>gCCGgg	p.4_5insA	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	4					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTGCTCTAGCCCGGCTGACTCC	0.673																																																	0																																										SO:0001652	inframe_insertion	0			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.11_13dupCCG	14.37:g.24657981_24657983dupCGG	ENSP00000346453:p.Ala4_Ala4dup		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	In_Frame_Ins	INS	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.5in_frame_insA	ENST00000354464.6	37	c.14_13	CCDS9616.1	14																																																																																			IPO4	-	superfamily_ARM-type_fold	ENSG00000196497		0.673	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4		0	9	0	0	NM_024658		24657981	-1			no_errors	ENST00000354464	ensembl	human	known	74_37	in_frame_ins	57.14	6	8	INS	0.998:0.993	CGG	CGG	24657981	-	CGG	24657980	7	5	123	1	0	1	1	0	0	0	0	0	7822	623	22	0	3351	0	IPO4	14	24657980	In_Frame_Ins	INS	-	TCGA-LN-A5U7-01A-11D-A31U-09	1418977	24657980	82691560	138	32059											
NIN	51199	genome.wustl.edu	37	chr14	51259444	51259444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacctcactgcagtcacCggctgggatgtgtgaaggcc	7	9	12	13	1	2	1	2	1	0	0	2	2	2	2	4	3	2	2	4	3	2	1	rs143800977		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr14:51259444C>A	ENST00000382041.3	-	5	611	c.421G>T	c.(421-423)Ggt>Tgt	p.G141C	NIN_ENST00000324330.9_Missense_Mutation_p.G141C|NIN_ENST00000530997.2_Missense_Mutation_p.G141C|NIN_ENST00000453196.1_Missense_Mutation_p.G141C|NIN_ENST00000486200.1_5'UTR|NIN_ENST00000389868.3_Missense_Mutation_p.G141C|NIN_ENST00000245441.5_Missense_Mutation_p.G141C|NIN_ENST00000382043.4_Missense_Mutation_p.G141C	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	141					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)	p.G141R(2)|p.G147R(1)		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)					CTGCAGTCACCGGCTGGGATG	0.582			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	3	Substitution - Missense(3)	lung(3)											106	83	91					14																	51259444		2203	4300	6503	SO:0001583	missense	0			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.421G>T	14.37:g.51259444C>A	ENSP00000371472:p.Gly141Cys		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.G141C	ENST00000382041.3	37	c.421	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846029	0.32606	.	.	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	6.07	-0.281	0.12882	.	0.765479	0.12688	N	0.447437	T	0.22360	0.0539	N	0.22421	0.69	0.09310	N	1	P;B;B;P;B	0.51791	0.948;0.001;0.002;0.87;0.004	P;B;B;B;B	0.57057	0.812;0.006;0.005;0.366;0.015	T	0.17349	-1.0372	10	0.56958	D	0.05	0.2186	7.5339	0.27700	0.0:0.4902:0.1336:0.3762	.	147;141;141;141;141	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	C	141;141;141;141;147;141;141;141;103	ENSP00000245441:G141C;ENSP00000374518:G141C;ENSP00000371474:G141C;ENSP00000371472:G141C;ENSP00000324210:G141C;ENSP00000412391:G141C;ENSP00000398641:G103C	ENSP00000245441:G141C	G	-	1	0	NIN	50329194	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.391000	0.07323	-0.550000	0.06183	-0.982000	0.02568	GGT	NIN	-	NULL	ENSG00000100503		0.582	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2		0	43	0	C	NM_182946		51259444	-1			no_errors	ENST00000245441	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.006	A	A	51259444	C	A	51259444	3	1	123	1	0	0	0	0	1	0	0	0	10456	652	23	2	6236	2	NIN	14	51259444	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	26601464	51259444	56090096	139	32060											
SPTLC2	9517	genome.wustl.edu	37	chr14	78023490	78023490	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctctaggctttgcatatCtacagagcacaaaaaagaac	15	10	6	10	0	2	2	0	0	2	2	3	2	2	2	0	1	4	3	0	1	7	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr14:78023490C>T	ENST00000216484.2	-	7	1044		c.e7-1		SPTLC2_ENST00000556264.1_5'Flank	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2						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)	CTTTGCATATCTACAGAGCAC	0.413																																																	0													76	68	71					14																	78023490		2203	4300	6503	SO:0001630	splice_region_variant	0			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.851-1G>A	14.37:g.78023490C>T			Q16685	Splice_Site	SNP	-	e7-1	ENST00000216484.2	37	c.851-1	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135028	0.37728	.	.	ENSG00000100596	ENST00000216484;ENST00000554901	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7783	0.91920	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTLC2	77093243	1.000000	0.71417	0.991000	0.47740	0.224000	0.24922	7.818000	0.86416	2.499000	0.84300	0.563000	0.77884	.	SPTLC2	-	-	ENSG00000100596		0.413	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1		0	25	0	C	NM_004863	Intron	78023490	-1			no_errors	ENST00000216484	ensembl	human	known	74_37	splice_site	21.62	29	8	SNP	1.000	T	T	78023490	C	T	78023490	5	4	123	1	0	0	0	0	0	0	1	0	15171	927	32	3	862	3	SPTLC2	14	78023490	Splice_Site	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	26764046	78023490	29326050	140	32061											
AKT1	207	genome.wustl.edu	37	chr14	105241542	105241542	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtactcaaactcgttcatGgtctatgggcaggcaccagg	10	9	12	10	1	3	0	2	0	1	0	4	0	3	0	1	5	2	4	1	5	3	3	rs145780379	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr14:105241542G>T	ENST00000554581.1	-	5	1918	c.438C>A	c.(436-438)acC>acA	p.T146T	AKT1_ENST00000544168.1_Silent_p.T84T|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000402615.2_Silent_p.T146T|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000554848.1_Silent_p.T146T|AKT1_ENST00000407796.2_Silent_p.T146T|AKT1_ENST00000555528.1_Silent_p.T146T|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000349310.3_Silent_p.T146T			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	146					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|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 lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	ACTCGTTCATGGTCTATGGGC	0.622		1	Mis		"breast, colorectal, ovarian, NSCLC"																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0													66	57	60					14																	105241542		2203	4300	6503	SO:0001819	synonymous_variant	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.438C>A	14.37:g.105241542G>T			B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.T146	ENST00000554581.1	37	c.438	CCDS9994.1	14																																																																																			AKT1	-	superfamily_Kinase-like_dom	ENSG00000142208		0.622	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1		0	42	0	G	NM_005163		105241542	-1			no_errors	ENST00000349310	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.999	T	T	105241542	G	T	105241542	2	4	123	1	0	0	0	0	0	0	0	1	478	1335	47	3		3	AKT1	14	105241542	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	27218052	105241542	2107998	141	32062											
OR4M2	390538	genome.wustl.edu	37	chr15	22368839	22368839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatagacttctttgtggaGaggaagataatttcttttga	11	16	9	5	0	3	4	1	1	2	3	3	6	3	5	0	2	0	0	0	2	3	7			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr15:22368839G>A	ENST00000332663.2	+	1	362	c.264G>A	c.(262-264)gaG>gaA	p.E88E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	88						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)		TCTTTGTGGAGAGGAAGATAA	0.443																																																	0													350	299	316					15																	22368839		2203	4300	6503	SO:0001819	synonymous_variant	0			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.264G>A	15.37:g.22368839G>A			B9EH16|Q6IEY2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E88	ENST00000332663.2	37	c.264	CCDS32172.1	15																																																																																			OR4M2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182974		0.443	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	OR4M2	HGNC	protein_coding	OTTHUMT00000414921.1		0	130	0	G			22368839	1			no_errors	ENST00000332663	ensembl	human	putative	74_37	silent	10.00	90	10	SNP	0.023	A	A	22368839	G	A	22368839	2	1	123	1	0	0	0	0	0	0	0	1	11115	933	33	3		3	OR4M2	15	22368839	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09		22368839	80162553	142	32063											
TBC1D21	161514	genome.wustl.edu	37	chr15	74173813	74173813	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggccacttggccaaatCacgggacttcatttgtgtta	9	12	11	9	1	2	0	2	0	0	0	2	2	2	1	2	3	0	1	2	3	2	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr15:74173813C>A	ENST00000300504.2	+	2	217	c.134C>A	c.(133-135)tCa>tAa	p.S45*	TBC1D21_ENST00000535547.2_Intron|TBC1D21_ENST00000562056.1_Nonsense_Mutation_p.S45*	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	45						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TTGGCCAAATCACGGGACTTC	0.542																																																	0													109	99	103					15																	74173813		2198	4297	6495	SO:0001587	stop_gained	0			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"male germ cell-specific expressed, containing a RabGAP domain"					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.134C>A	15.37:g.74173813C>A	ENSP00000300504:p.Ser45*		B9A6M2	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S45*	ENST00000300504.2	37	c.134	CCDS10252.1	15	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906315	0.33628	.	.	ENSG00000167139	ENST00000300504	.	.	.	5.02	3.09	0.35607	.	0.579523	0.14494	N	0.316172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2819	11.5077	0.50476	0.0:0.6493:0.3507:0.0	.	.	.	.	X	45	.	ENSP00000300504:S45X	S	+	2	0	TBC1D21	71960866	0.937000	0.31787	0.129000	0.21949	0.021000	0.10359	2.407000	0.44565	0.669000	0.31146	-0.175000	0.13238	TCA	TBC1D21	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000167139		0.542	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1		0	48	0	C	NM_153356		74173813	1			no_errors	ENST00000300504	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	0.192	A	A	74173813	C	A	74173813	4	1	123	1	0	0	0	0	0	1	0	0	15657	838	29	3	140	3	TBC1D21	15	74173813	Nonsense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	51804974	74173813	28357579	143	32064											
WFIKKN1	117166	genome.wustl.edu	37	chr16	683045	683045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcgacgtcagcggccGcccgccgcctgctgtgacct	4	6	12	19	6	1	1	1	1	0	0	1	2	1	1	6	1	3	1	6	1	0	0	rs146880296		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:683045G>A	ENST00000319070.2	+	2	957	c.635G>A	c.(634-636)cGc>cAc	p.R212H		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	212	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GTCAGCGGCCGCCCGCCGCCT	0.677																																																	0									HIS/ARG	1,4329		0,1,2164	20	23	22		635	0.5	0.8	16	dbSNP_134	22	0,8498		0,0,4249	no	missense	WFIKKN1	NM_053284.2	29	0,1,6413	AA,AG,GG		0.0,0.0231,0.0078	benign	212/549	683045	1,12827	2165	4249	6414	SO:0001583	missense	0			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.635G>A	16.37:g.683045G>A	ENSP00000324763:p.Arg212His		Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m	p.R212H	ENST00000319070.2	37	c.635	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	g	11.30	1.598287	0.28445	2.31E-4	0.0	ENSG00000127578	ENST00000319070	T	0.67345	-0.26	4.71	0.512	0.16994	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.277185	0.36815	N	0.002395	T	0.55561	0.1928	N	0.03891	-0.335	0.38420	D	0.946164	D	0.89917	1.0	D	0.68765	0.96	T	0.57470	-0.7806	10	0.42905	T	0.14	.	8.397	0.32564	0.3346:0.0:0.6654:0.0	.	212	Q96NZ8	WFKN1_HUMAN	H	212	ENSP00000324763:R212H	ENSP00000324763:R212H	R	+	2	0	WFIKKN1	623046	0.191000	0.23288	0.813000	0.32504	0.927000	0.56198	2.921000	0.48852	-0.128000	0.11641	0.486000	0.48141	CGC	WFIKKN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000127578		0.677	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2		0	16	0	G	NM_053284		683045	1			no_errors	ENST00000319070	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.976	A	A	683045	G	A	683045	3	1	123	1	0	0	0	0	1	0	0	0	17407	1087	38	1	641	1	WFIKKN1	16	683045	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09		683045	89671708	144	32065											
WDR90	197335	genome.wustl.edu	37	chr16	710154	710154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcagctgcagcccccactCtgccaaggtggggagtggtt	6	8	15	12	0	2	0	1	0	1	0	2	1	2	1	3	5	4	3	3	5	1	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:710154C>G	ENST00000293879.4	+	27	3281	c.3281C>G	c.(3280-3282)tCt>tGt	p.S1094C	WDR90_ENST00000549091.1_Missense_Mutation_p.S1094C			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1094										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				AGCCCCCACTCTGCCAAGGTG	0.662																																																	0													16	23	21					16																	710154		1728	3741	5469	SO:0001583	missense	0			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.3281C>G	16.37:g.710154C>G	ENSP00000293879:p.Ser1094Cys		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1094C	ENST00000293879.4	37	c.3281	CCDS42092.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.44|10.44	1.351847|1.351847	0.24512|0.24512	.|.	.|.	ENSG00000161996|ENSG00000161996	ENST00000550739|ENST00000549091;ENST00000293879	.|T;T	.|0.29142	.|1.62;1.58	1.48|1.48	0.476|0.476	0.16779|0.16779	.|.	.|1.010480	.|0.07957	.|N	.|0.981759	T|T	0.20740|0.20740	0.0499|0.0499	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|P;P	.|0.48230	.|0.907;0.878	.|B;B	.|0.44163	.|0.443;0.326	T|T	0.14587|0.14587	-1.0467|-1.0467	5|10	.|0.48119	.|T	.|0.1	.|.	3.7376|3.7376	0.08517|0.08517	0.0:0.7487:0.0:0.2513|0.0:0.7487:0.0:0.2513	.|.	.|1094;1094	.|F8VUX9;Q96KV7	.|.;WDR90_HUMAN	V|C	77|1094	.|ENSP00000448122:S1094C;ENSP00000293879:S1094C	.|ENSP00000293879:S1094C	L|S	+|+	1|2	2|0	WDR90|WDR90	650155|650155	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.157000|0.157000	0.22087|0.22087	0.250000|0.250000	0.18235|0.18235	0.199000|0.199000	0.20427|0.20427	0.491000|0.491000	0.48974|0.48974	CTG|TCT	WDR90	-	NULL	ENSG00000161996		0.662	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1		0	49	0	C	NM_145294		710154	1			no_errors	ENST00000549091	ensembl	human	novel	74_37	missense	28.85	37	15	SNP	0.001	G	G	710154	C	G	710154	3	3	123	1	0	0	0	0	1	0	0	0	17386	913	32	5	3387	5	WDR90	16	710154	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	27109	710154	89644599	145	32066											
IL32	9235	genome.wustl.edu	37	chr16	3119294	3119294	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttccagtcctacggagccCcacggggggacaaggaggag	9	5	15	12	2	0	0	0	0	0	0	2	4	2	4	4	6	2	0	4	6	2	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:3119294C>A	ENST00000534507.1	+	6	854	c.643C>A	c.(643-645)Cca>Aca	p.P215T	IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000525643.2_Missense_Mutation_p.P169T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T			P24001	IL32_HUMAN	interleukin 32	215					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)		p.P169T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTACGGAGCCCCACGGGGGGA	0.582																																																	1	Substitution - Missense(1)	lung(1)											95	124	114					16																	3119294		2197	4300	6497	SO:0001583	missense	0			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.643C>A	16.37:g.3119294C>A	ENSP00000431775:p.Pro215Thr		A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	NULL	p.P215T	ENST00000534507.1	37	c.643		16	.	.	.	.	.	.	.	.	.	.	C	4.454	0.084032	0.08583	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;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	0.57436	0.42;0.44;0.42;0.4;0.42;0.42;0.42;0.42;0.4;0.42;0.44;0.42;0.43;0.42;0.42;0.43;0.44;0.42;0.42;0.4;0.44;0.44;0.42;0.43;0.44;0.42;0.42	1.71	-0.364	0.12553	.	.	.	.	.	T	0.40694	0.1127	N	0.08118	0	0.09310	N	1	P;P;P;P;P;P;P	0.51449	0.833;0.938;0.938;0.833;0.833;0.938;0.945	B;B;B;B;B;B;P	0.56648	0.151;0.192;0.192;0.197;0.151;0.192;0.803	T	0.26710	-1.0095	9	0.87932	D	0	.	4.0362	0.09730	0.0:0.5866:0.0:0.4134	.	129;149;160;149;215;169;112	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;.;.;IL32_HUMAN;.;.	T	169;215;159;112;149;169;169;169;112;169;215;169;149;169;169;149;215;160;169;112;193;215;169;149;206;160;129	ENSP00000324742:P169T;ENSP00000431775:P215T;ENSP00000433177:P159T;ENSP00000380096:P112T;ENSP00000436937:P149T;ENSP00000450364:P169T;ENSP00000405063:P169T;ENSP00000437020:P169T;ENSP00000447496:P112T;ENSP00000432218:P169T;ENSP00000448354:P215T;ENSP00000432850:P169T;ENSP00000433747:P149T;ENSP00000411958:P169T;ENSP00000432917:P169T;ENSP00000008180:P149T;ENSP00000380099:P215T;ENSP00000446624:P160T;ENSP00000436929:P169T;ENSP00000447812:P112T;ENSP00000447033:P193T;ENSP00000449483:P215T;ENSP00000448683:P169T;ENSP00000446978:P149T;ENSP00000449147:P206T;ENSP00000371648:P160T;ENSP00000447979:P129T	ENSP00000008180:P149T	P	+	1	0	IL32	3059295	0.142000	0.22610	0.000000	0.03702	0.001000	0.01503	0.729000	0.26028	-0.050000	0.13356	0.543000	0.68304	CCA	IL32	-	NULL	ENSG00000008517		0.582	IL32-002	KNOWN	basic	protein_coding	IL32	HGNC	protein_coding	OTTHUMT00000394812.2		0	47	0	C	NM_004221		3119294	1			no_errors	ENST00000396890	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	A	A	3119294	C	A	3119294	3	1	123	1	0	0	0	0	1	0	0	0	7719	623	22	3	527	3	IL32	16	3119294	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	2409140	3119294	87235459	146	32067											
SMG1	23049	genome.wustl.edu	37	chr16	18849424	18849424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttgctctcggcctgctggCcacctccaccatagacagca	7	8	9	17	1	1	1	0	0	1	1	3	1	2	1	5	2	3	4	5	2	1	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:18849424C>T	ENST00000446231.2	-	45	7737	c.7325G>A	c.(7324-7326)gGc>gAc	p.G2442D	SMG1_ENST00000389467.3_Missense_Mutation_p.G2442D			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2442	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						GGCCTGCTGGCCACCTCCACC	0.582																																																	0													37	40	39					16																	18849424		2090	4214	6304	SO:0001583	missense	0			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.7325G>A	16.37:g.18849424C>T	ENSP00000402515:p.Gly2442Asp		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G2442D	ENST00000446231.2	37	c.7325	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189376	0.78789	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01145	5.27;5.27	5.72	5.72	0.89469	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.64402	D	0.000001	T	0.02533	0.0077	N	0.11201	0.11	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.77357	-0.2618	10	0.12430	T	0.62	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	2442	Q96Q15	SMG1_HUMAN	D	2442	ENSP00000402515:G2442D;ENSP00000374118:G2442D	ENSP00000374118:G2442D	G	-	2	0	SMG1	18756925	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.740000	0.84986	2.865000	0.98341	0.655000	0.94253	GGC	SMG1	-	superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000157106		0.582	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1		0	21	0	C	NM_015092		18849424	-1			no_errors	ENST00000389467	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T	T	18849424	C	T	18849424	3	4	123	1	0	0	0	0	1	0	0	0	14840	739	26	3	3736	3	SMG1	16	18849424	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	15730130	18849424	71505329	147	32068											
ZNF821	55565	genome.wustl.edu	37	chr16	71894143	71894143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcggatgagccgggcctgCcgcttttccggggtttcatt	3	13	13	12	4	2	1	1	1	1	0	4	2	3	2	4	4	2	2	4	4	0	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:71894143C>T	ENST00000565601.1	-	7	1424	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	ZNF821_ENST00000446827.2_Silent_p.R297R|ZNF821_ENST00000425432.1_Silent_p.R339R|ZNF821_ENST00000313565.6_Silent_p.R297R|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564134.1_3'UTR	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	339					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(5)|lung(4)|ovary(2)	13						GCCGGGCCTGCCGCTTTTCCG	0.637																																																	0													34	35	34					16																	71894143		2198	4300	6498	SO:0001819	synonymous_variant	0			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"Zinc fingers, C2H2-type"	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.1017G>A	16.37:g.71894143C>T			A6NK48|B4DKK4|D3DWS3	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R339	ENST00000565601.1	37	c.1017	CCDS56006.1	16																																																																																			ZNF821	-	NULL	ENSG00000102984		0.637	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF821	HGNC	protein_coding	OTTHUMT00000434180.1		0	41	0	C	NM_017530		71894143	-1			no_errors	ENST00000425432	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	T	T	71894143	C	T	71894143	2	4	123	1	0	0	0	0	0	0	0	1	18226	726	26	3		3	ZNF821	16	71894143	Silent	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	53044719	71894143	18460610	148	32069											
PMFBP1	83449	genome.wustl.edu	37	chr16	72159999	72159999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtccagctgggcctgCaggctcattaaggactcctt	6	12	11	12	0	1	0	1	0	0	0	3	1	3	1	3	3	2	4	3	3	1	3	rs368797957		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:72159999C>T	ENST00000237353.10	-	15	2382	c.2121G>A	c.(2119-2121)ctG>ctA	p.L707L	PMFBP1_ENST00000355636.6_Silent_p.L562L|PMFBP1_ENST00000537792.1_5'Flank|PMFBP1_ENST00000537465.1_Silent_p.L712L	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	712						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCTGGGCCTGCAGGCTCATTA	0.522																																																	0								C	,	0,4396		0,0,2198	171	166	168		1686,2121	1.7	0.2	16		168	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PMFBP1	NM_001160213.1,NM_031293.2	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	562/883,707/1008	72159999	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2121G>A	16.37:g.72159999C>T			B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	NULL	p.L712	ENST00000237353.10	37	c.2136	CCDS32483.1	16																																																																																			PMFBP1	-	NULL	ENSG00000118557		0.522	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2		0	64	0	C	NM_031293		72159999	-1			no_errors	ENST00000537465	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.295	T	T	72159999	C	T	72159999	2	4	123	1	0	0	0	0	0	0	0	1	12173	697	25	3		3	PMFBP1	16	72159999	Silent	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	265856	72159999	18194754	149	32070											
TIMM22	29928	genome.wustl.edu	37	chr17	900388	900388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagcgactgtcatggcGgcggccgcccccaatgccgg	5	5	16	15	5	1	0	1	0	0	0	1	1	1	0	4	5	2	1	4	5	1	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:900388G>A	ENST00000327158.4	+	1	32	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	2					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTGTCATGGCGGCGGCCGCCC	0.662																																																	0													10	14	13					17																	900388		2059	4094	6153	SO:0001819	synonymous_variant	0			AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"testis-expressed sequence 4"	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.6G>A	17.37:g.900388G>A			Q9NWI8	Silent	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.A2	ENST00000327158.4	37	c.6	CCDS32521.1	17																																																																																			TIMM22	-	NULL	ENSG00000177370		0.662	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM22	HGNC	protein_coding	OTTHUMT00000450107.2		0	10	0	G	NM_013337		900388	1			no_errors	ENST00000327158	ensembl	human	known	74_37	silent	24.14	22	7	SNP	1.000	A	A	900388	G	A	900388	2	1	123	1	0	0	0	0	0	0	0	1	15957	1103	39	1		1	TIMM22	17	900388	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09		900388	80294822	150	32071											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	0	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	15	0	C	NM_000546		7578406	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	92.00	2	23	SNP	1.000	T	T	7578406	C	T	7578406	3	4	123	1	0	0	0	0	1	0	0	0	16429	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	6678018	7578406	73616804	151	32072											
CHD3	1107	genome.wustl.edu	37	chr17	7803295	7803295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcacttggttccatcCgctgggcctgtcttgtggta	5	12	13	11	1	1	0	0	0	1	0	3	0	3	0	3	4	1	5	3	4	1	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:7803295C>T	ENST00000330494.7	+	16	2776	c.2626C>T	c.(2626-2628)Cgc>Tgc	p.R876C	CHD3_ENST00000380358.4_Missense_Mutation_p.R935C|CHD3_ENST00000358181.4_Missense_Mutation_p.R876C	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	876	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGGTTCCATCCGCTGGGCCTG	0.488																																																	0													147	122	130					17																	7803295		2203	4300	6503	SO:0001583	missense	0			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.2626C>T	17.37:g.7803295C>T	ENSP00000332628:p.Arg876Cys		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R876C	ENST00000330494.7	37	c.2626	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969096	0.34754	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93488	-3.23;-3.23;-3.23	5.4	4.39	0.52855	DEAD-like helicase (2);SNF2-related (1);	0.143887	0.32459	N	0.006065	D	0.89399	0.6704	L	0.42686	1.345	0.52501	D	0.999958	B;B;B	0.18863	0.013;0.017;0.031	B;B;B	0.10450	0.003;0.005;0.005	D	0.86481	0.1791	10	0.87932	D	0	-5.7439	10.1176	0.42601	0.0:0.7741:0.144:0.0819	.	876;876;935	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	C	935;876;876	ENSP00000369716:R935C;ENSP00000350907:R876C;ENSP00000332628:R876C	ENSP00000332628:R876C	R	+	1	0	CHD3	7744020	0.219000	0.23619	1.000000	0.80357	0.882000	0.50991	1.235000	0.32671	1.421000	0.47157	-0.367000	0.07326	CGC	CHD3	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000170004		0.488	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1		0	51	0	C	NM_001005273		7803295	1			no_errors	ENST00000330494	ensembl	human	known	74_37	missense	33.96	35	18	SNP	1.000	T	T	7803295	C	T	7803295	3	4	123	1	0	0	0	0	1	0	0	0	3333	652	23	1	2969	1	CHD3	17	7803295	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	224889	7803295	73391915	152	32073											
ALDH3A2	224	genome.wustl.edu	37	chr17	19575092	19575092	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tttgatactttttctcatcaGcgtccctgtttattaaaaag	10	18	5	8	1	2	1	2	1	1	0	4	1	3	1	1	0	2	1	1	0	5	7			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:19575092G>T	ENST00000176643.6	+	9	1712	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H	ALDH3A2_ENST00000579855.1_Missense_Mutation_p.Q422H|ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.Q422H|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.Q422H|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.Q422H			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	422					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)	p.Q422Q(1)		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)					TTTCTCATCAGCGTCCCTGTT	0.393																																																	1	Substitution - coding silent(1)	endometrium(1)											106	110	109					17																	19575092		2203	4300	6503	SO:0001583	missense	0			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.1266G>T	17.37:g.19575092G>T	ENSP00000176643:p.Gln422His		Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.Q422H	ENST00000176643.6	37	c.1266	CCDS11210.1	17	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722748	0.30503	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.84298	-1.83;-1.83;-1.83	6.06	-9.57	0.00562	Aldehyde/histidinol dehydrogenase (1);	0.939962	0.09185	N	0.836917	T	0.61048	0.2316	N	0.12746	0.255	0.39896	D	0.973837	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.22487	-1.0215	10	0.13853	T	0.58	-0.1489	5.3547	0.16055	0.1242:0.24:0.476:0.1598	.	422;422	P51648;P51648-2	AL3A2_HUMAN;.	H	422	ENSP00000176643:Q422H;ENSP00000378942:Q422H;ENSP00000345774:Q422H	ENSP00000176643:Q422H	Q	+	3	2	ALDH3A2	19515684	0.000000	0.05858	0.383000	0.26132	0.985000	0.73830	-2.082000	0.01365	-1.215000	0.02610	-0.355000	0.07637	CAG	ALDH3A2	-	superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000072210		0.393	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	ALDH3A2	HGNC	protein_coding	OTTHUMT00000132268.1		0	57	0	G			19575092	1			no_errors	ENST00000339618	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.009	T	T	19575092	G	T	19575092	3	4	123	1	0	0	0	0	1	0	0	0	498	962	34	3	1300	3	ALDH3A2	17	19575092	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	11771797	19575092	61620118	153	32074											
ALDH3A1	218	genome.wustl.edu	37	chr17	19646639	19646639	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgcccagtggctccgagtgGatgtagagctcgtcctgctg	6	9	14	12	3	0	1	0	0	0	1	3	3	2	2	3	2	2	4	3	2	1	1	rs11554974		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:19646639G>A	ENST00000457500.2	-	2	629	c.300C>T	c.(298-300)atC>atT	p.I100I	ALDH3A1_ENST00000444455.1_Silent_p.I100I|ALDH3A1_ENST00000225740.6_Silent_p.I100I|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000494157.2_Silent_p.I27I|ALDH3A1_ENST00000395555.3_Silent_p.I100I	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	100					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		GCTCCGAGTGGATGTAGAGCT	0.612																																																	0													117	101	107					17																	19646639		2203	4300	6503	SO:0001819	synonymous_variant	0			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.300C>T	17.37:g.19646639G>A			A8K828|Q9BT37	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.I100	ENST00000457500.2	37	c.300	CCDS11212.1	17																																																																																			ALDH3A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000108602		0.612	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALDH3A1	HGNC	protein_coding	OTTHUMT00000132265.4		0	31	0	G	NM_000691		19646639	-1			no_errors	ENST00000225740	ensembl	human	known	74_37	silent	25.00	21	7	SNP	1.000	A	A	19646639	G	A	19646639	2	1	123	1	0	0	0	0	0	0	0	1	497	1164	41	3		3	ALDH3A1	17	19646639	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	71547	19646639	61548571	154	32075											
C17orf66	256957	genome.wustl.edu	37	chr17	34185496	34185496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgatgactggggctgagtGcacgtgcatcaccttgacca	8	10	12	11	1	1	4	1	4	0	0	1	4	1	4	2	2	2	3	2	2	0	2	rs116758864	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:34185496G>A	ENST00000311880.2	-	10	1121	c.973C>T	c.(973-975)Cac>Tac	p.H325Y	C17orf66_ENST00000592980.1_Missense_Mutation_p.H285Y	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		325					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)		GGGGCTGAGTGCACGTGCATC	0.577													G|||	6	0.00119808	0.0023	0.0014	5008	,	,		20619	0		0.002	False		,,,				2504	0																0								G	TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	118	79	92		973	1.8	0.5	17	dbSNP_132	92	8,8592	6.4+/-24.3	0,8,4292	yes	missense	C17orf66	NM_152781.2	83	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	probably-damaging	325/571	34185496	9,12997	2203	4300	6503	SO:0001583	missense	0																														ENST00000311880.2:c.973C>T	17.37:g.34185496G>A	ENSP00000309560:p.His325Tyr		B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H325Y	ENST00000311880.2	37	c.973	CCDS11299.1	17	6	0.0027472527472527475	4	0.008130081300813009	0	0.0	0	0.0	2	0.002638522427440633	G	9.495	1.101604	0.20632	2.27E-4	9.3E-4	ENSG00000172653	ENST00000311880	T	0.47869	0.83	4.02	1.84	0.25277	Armadillo-type fold (1);	0.302618	0.24105	N	0.041507	T	0.26846	0.0657	L	0.34521	1.04	0.09310	N	1	P;B;P	0.40332	0.713;0.376;0.59	B;B;B	0.39531	0.302;0.071;0.159	T	0.12344	-1.0551	10	0.59425	D	0.04	.	8.6452	0.34000	0.0:0.0:0.5853:0.4147	.	291;285;325	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	Y	325	ENSP00000309560:H325Y	ENSP00000309560:H325Y	H	-	1	0	C17orf66	31209609	0.892000	0.30473	0.457000	0.27056	0.872000	0.50106	1.140000	0.31516	0.381000	0.24851	0.305000	0.20034	CAC	C17orf66	-	superfamily_ARM-type_fold	ENSG00000172653		0.577	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf66	HGNC	protein_coding	OTTHUMT00000256487.1		0	22	0	G			34185496	-1			no_errors	ENST00000311880	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.025	A	A	34185496	G	A	34185496	3	1	123	1	0	0	0	0	1	0	0	0	1880	1319	46	3	763	3	C17orf66	17	34185496	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	14538857	34185496	47009714	155	32076											
KPNB1	3837	genome.wustl.edu	37	chr17	45730174	45730174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacatctaaagatccagatAtcaaggcacaatatcagcag	17	8	7	9	0	3	3	2	1	1	2	4	3	4	3	1	1	1	2	1	1	6	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:45730174A>G	ENST00000290158.4	+	3	621	c.214A>G	c.(214-216)Atc>Gtc	p.I72V	KPNB1_ENST00000535458.2_5'UTR|KPNB1_ENST00000540627.1_5'UTR|KPNB1_ENST00000577918.1_3'UTR	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	72	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				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						AGATCCAGATATCAAGGCACA	0.438																																																	0													121	113	115					17																	45730174		2203	4300	6503	SO:0001583	missense	0			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.214A>G	17.37:g.45730174A>G	ENSP00000290158:p.Ile72Val		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.I72V	ENST00000290158.4	37	c.214	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	A	3.642	-0.073392	0.07184	.	.	ENSG00000108424	ENST00000290158	T	0.66815	-0.23	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.134780	0.50627	D	0.000108	T	0.38214	0.1032	N	0.05441	-0.05	0.32010	N	0.602183	B	0.02656	0.0	B	0.01281	0.0	T	0.43180	-0.9407	9	0.02654	T	1	-0.5847	7.8129	0.29241	0.843:0.0:0.157:0.0	.	72	Q14974	IMB1_HUMAN	V	72	ENSP00000290158:I72V	ENSP00000290158:I72V	I	+	1	0	KPNB1	43085173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.746000	0.55127	1.974000	0.57490	0.379000	0.24179	ATC	KPNB1	-	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	ENSG00000108424		0.438	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	HGNC	protein_coding	OTTHUMT00000089755.2		0	31	0	A	NM_002265		45730174	1			no_errors	ENST00000290158	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	G	G	45730174	A	G	45730174	3	3	123	1	0	0	0	0	1	0	0	0	8462	449	16	4	224	4	KPNB1	17	45730174	Missense_Mutation	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	11544678	45730174	35465036	156	32077											
KCNH6	81033	genome.wustl.edu	37	chr17	61619749	61619749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacatgtacccggcctttgCggagagcttctggagtaagc	8	9	14	10	2	1	1	0	0	1	1	1	4	1	3	2	4	4	3	2	4	2	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:61619749C>T	ENST00000583023.1	+	9	2113	c.2102C>T	c.(2101-2103)gCg>gTg	p.A701V	KCNH6_ENST00000314672.5_Missense_Mutation_p.A701V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A648V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A648V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	701					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCGGCCTTTGCGGAGAGCTTC	0.632																																																	0													97	83	88					17																	61619749		2203	4300	6503	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2102C>T	17.37:g.61619749C>T	ENSP00000463533:p.Ala701Val		Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.A701V	ENST00000583023.1	37	c.2102	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.194461	0.94960	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.97016	-4.21;-4.21	4.73	4.73	0.59995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.243360	0.33144	N	0.005234	D	0.95743	0.8615	L	0.40543	1.245	0.53005	D	0.999965	D;P;P;D	0.57257	0.979;0.882;0.879;0.966	B;B;P;P	0.52031	0.279;0.261;0.688;0.653	D	0.96197	0.9142	10	0.59425	D	0.04	.	17.687	0.88258	0.0:1.0:0.0:0.0	.	578;701;648;701	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	V	701;648	ENSP00000318212:A701V;ENSP00000396900:A648V	ENSP00000318212:A701V	A	+	2	0	KCNH6	58973481	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	6.083000	0.71326	2.148000	0.66965	0.467000	0.42956	GCG	KCNH6	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom	ENSG00000173826		0.632	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1		0	47	0	C	NM_030779		61619749	1			no_errors	ENST00000583023	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	61619749	C	T	61619749	3	4	123	1	0	0	0	0	1	0	0	0	8063	768	27	1	2136	1	KCNH6	17	61619749	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	15889575	61619749	19575461	157	32078											
RNF213	57674	genome.wustl.edu	37	chr17	78319437	78319437	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcttattaaattccttagCgacctgcggcgtggtggtac	8	12	12	9	3	0	0	0	0	0	0	1	1	1	0	2	4	3	2	2	4	5	5	rs140757899	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:78319437C>T	ENST00000582970.1	+	29	7445	c.7302C>T	c.(7300-7302)agC>agT	p.S2434S	RNF213_ENST00000336301.6_Silent_p.S507S|RNF213_ENST00000508628.2_Silent_p.S2483S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2434					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)			AATTCCTTAGCGACCTGCGGC	0.517													C|||	4	0.000798722	0	0	5008	,	,		20480	0		0	False		,,,				2504	0.0041																0								C		1,4405	2.1+/-5.4	0,1,2202	85	83	83		7449	-8.1	0.3	17	dbSNP_134	83	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	RNF213	NM_020914.4		0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461		2483/5257	78319437	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	0			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.7302C>T	17.37:g.78319437C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S2434	ENST00000582970.1	37	c.7302	CCDS58606.1	17																																																																																			RNF213	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000173821		0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	59	0	C	NM_020914		78319437	1			no_errors	ENST00000582970	ensembl	human	known	74_37	silent	49.25	34	33	SNP	0.191	T	T	78319437	C	T	78319437	2	4	123	1	0	0	0	0	0	0	0	1	13522	767	27	1		1	RNF213	17	78319437	Silent	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	16699688	78319437	2875773	158	32079											
PTPRM	5797	genome.wustl.edu	37	chr18	7774252	7774252	+	Missense_Mutation	SNP	A	A	T	1	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	cttgactaaaccgacttctgAtccatggatgccatcaggtt	10	12	8	11	1	2	2	1	2	1	0	3	4	3	3	3	2	2	1	3	2	2	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr18:7774252A>T	ENST00000332175.8	+	2	1216	c.179A>T	c.(178-180)gAt>gTt	p.D60V	PTPRM_ENST00000400053.4_5'UTR|PTPRM_ENST00000400060.4_Missense_Mutation_p.D60V|PTPRM_ENST00000580170.1_Missense_Mutation_p.D60V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	60	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCGACTTCTGATCCATGGATG	0.388																																																	0													197	174	182					18																	7774252		2203	4300	6503	SO:0001583	missense	0			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.179A>T	18.37:g.7774252A>T	ENSP00000331418:p.Asp60Val		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D60V	ENST00000332175.8	37	c.179	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846633	0.51164	.	.	ENSG00000173482	ENST00000332175;ENST00000400060	T;T	0.03580	3.88;3.88	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.192649	0.41194	D	0.000929	T	0.20495	0.0493	M	0.85041	2.73	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79784	0.993;0.993	T	0.00615	-1.1643	10	0.44086	T	0.13	.	15.0877	0.72167	1.0:0.0:0.0:0.0	.	60;60	A7MBN1;P28827	.;PTPRM_HUMAN	V	60	ENSP00000331418:D60V;ENSP00000382933:D60V	ENSP00000331418:D60V	D	+	2	0	PTPRM	7764252	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.245000	0.65405	2.255000	0.74692	0.533000	0.62120	GAT	PTPRM	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000173482		0.388	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1		0	65	0	A			7774252	1			no_errors	ENST00000400060	ensembl	human	known	74_37	missense	28.21	56	22	SNP	1.000	T	T	7774252	A	T	7774252	3	4	123	1	0	0	0	0	1	0	0	0	12851	333	12	5	185	5	PTPRM	18	7774252	Missense_Mutation	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09		7774252	70302996	159	32080											
SYT4	6860	genome.wustl.edu	37	chr18	40853827	40853827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttgatatatgggtcagaGgtcatcgactgctcatccat	10	14	9	8	1	3	2	3	1	0	1	5	3	4	2	1	2	1	1	1	2	2	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr18:40853827G>A	ENST00000255224.3	-	2	935	c.567C>T	c.(565-567)acC>acT	p.T189T	SYT4_ENST00000590752.1_Silent_p.T171T|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	189	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						ATGGGTCAGAGGTCATCGACT	0.443																																					NSCLC(85;81 1419 2855 22820 35912)												0													77	76	77					18																	40853827		2203	4300	6503	SO:0001819	synonymous_variant	0			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.567C>T	18.37:g.40853827G>A			B4DEU3|Q9P2K4	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.T189	ENST00000255224.3	37	c.567	CCDS11922.1	18																																																																																			SYT4	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000132872		0.443	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2		0	39	0	G	NM_020783		40853827	-1			no_errors	ENST00000255224	ensembl	human	known	74_37	silent	26.74	63	23	SNP	1.000	A	A	40853827	G	A	40853827	2	1	123	1	0	0	0	0	0	0	0	1	15523	987	35	3		3	SYT4	18	40853827	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	33079575	40853827	37223421	160	32081											
HDHD2	84064	genome.wustl.edu	37	chr18	44639384	44639384	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccagcatgccgacatcttGagccccaccaacatcatccc	10	6	6	19	1	2	1	1	1	1	0	3	2	3	1	6	0	4	1	6	0	1	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr18:44639384G>A	ENST00000300605.6	-	6	792	c.640C>T	c.(640-642)Caa>Taa	p.Q214*	HDHD2_ENST00000587841.1_5'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	214						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						CCGACATCTTGAGCCCCACCA	0.383																																																	0													141	122	129					18																	44639384		2203	4300	6503	SO:0001587	stop_gained	0			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.640C>T	18.37:g.44639384G>A	ENSP00000300605:p.Gln214*		A8K7T3|Q96NV4	Nonsense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA	p.Q214*	ENST00000300605.6	37	c.640	CCDS32829.1	18	.	.	.	.	.	.	.	.	.	.	G	36	5.933391	0.97116	.	.	ENSG00000167220	ENST00000300605	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.8062	20.0471	0.97613	0.0:0.0:1.0:0.0	.	.	.	.	X	214	.	ENSP00000300605:Q214X	Q	-	1	0	HDHD2	42893382	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.513000	0.98010	2.815000	0.96918	0.561000	0.74099	CAA	HDHD2	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA	ENSG00000167220		0.383	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HDHD2	HGNC	protein_coding	OTTHUMT00000450668.2		0	35	0	G	NM_032124		44639384	-1			no_errors	ENST00000300605	ensembl	human	known	74_37	nonsense	12.44	169	24	SNP	1.000	A	A	44639384	G	A	44639384	4	1	123	1	0	0	0	0	0	1	0	0	7050	1299	45	3	147	3	HDHD2	18	44639384	Nonsense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	3785557	44639384	33437864	161	32082											
PHLPP1	23239	genome.wustl.edu	37	chr18	60639791	60639791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataacttctgtgacaaccGcgaagccctgtatggtgtgt	10	11	11	9	2	1	1	0	1	1	0	1	3	1	1	2	1	3	1	2	1	5	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr18:60639791G>A	ENST00000262719.5	+	15	3839	c.3605G>A	c.(3604-3606)cGc>cAc	p.R1202H	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R690H			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1202	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TGTGACAACCGCGAAGCCCTG	0.537																																																	0													103	108	107					18																	60639791		2045	4211	6256	SO:0001583	missense	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3605G>A	18.37:g.60639791G>A	ENSP00000262719:p.Arg1202His		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.R1202H	ENST00000262719.5	37	c.3605	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	31	5.076421	0.94000	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.09445	2.98;2.98	4.97	4.97	0.65823	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.28101	0.0693	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	T	0.00409	-1.1757	9	0.46703	T	0.11	-16.81	18.454	0.90713	0.0:0.0:1.0:0.0	.	1202	O60346	PHLP1_HUMAN	H	690;1202	ENSP00000383170:R690H;ENSP00000262719:R1202H	ENSP00000262719:R1202H	R	+	2	0	PHLPP1	58790771	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.542000	0.60677	2.586000	0.87340	0.650000	0.86243	CGC	PHLPP1	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000081913		0.537	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2		0	49	0	G	NM_194449		60639791	1			no_errors	ENST00000262719	ensembl	human	known	74_37	missense	36.17	30	17	SNP	1.000	A	A	60639791	G	A	60639791	3	1	123	1	0	0	0	0	1	0	0	0	11893	1087	38	1	3663	1	PHLPP1	18	60639791	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	16000407	60639791	17437457	162	32083											
C19orf35	374872	genome.wustl.edu	37	chr19	2278932	2278932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgggaccccagaaagggtCtccgaggcggctgtacttgg	7	8	16	10	2	1	1	0	0	1	1	2	3	1	2	3	5	1	2	3	5	2	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:2278932C>G	ENST00000342063.3	-	3	356	c.263G>C	c.(262-264)aGa>aCa	p.R88T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	88										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		CAGAAAGGGTCTCCGAGGCGG	0.657																																																	0													13	12	13					19																	2278932		2188	4284	6472	SO:0001583	missense	0			AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.263G>C	19.37:g.2278932C>G	ENSP00000345102:p.Arg88Thr			Missense_Mutation	SNP	NULL	p.R88T	ENST00000342063.3	37	c.263	CCDS12087.1	19	.	.	.	.	.	.	.	.	.	.	C	6.190	0.403163	0.11754	.	.	ENSG00000188305	ENST00000342063	T	0.16073	2.37	3.65	0.164	0.14990	.	.	.	.	.	T	0.18425	0.0442	L	0.53249	1.67	0.09310	N	1	P	0.36535	0.557	B	0.41174	0.349	T	0.18808	-1.0325	9	0.62326	D	0.03	.	6.4058	0.21664	0.0:0.48:0.0:0.52	.	88	Q6ZS72	CS035_HUMAN	T	88	ENSP00000345102:R88T	ENSP00000345102:R88T	R	-	2	0	C19orf35	2229932	0.428000	0.25522	0.007000	0.13788	0.036000	0.12997	0.484000	0.22308	-0.223000	0.09943	-0.390000	0.06520	AGA	C19orf35	-	NULL	ENSG00000188305		0.657	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf35	HGNC	protein_coding	OTTHUMT00000442080.1		0	54	0	C	NM_198532		2278932	-1			no_errors	ENST00000342063	ensembl	human	known	74_37	missense	35.59	76	42	SNP	0.022	G	G	2278932	C	G	2278932	3	3	123	1	0	0	0	0	1	0	0	0	1927	913	32	5	1166	5	C19orf35	19	2278932	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09		2278932	56850051	163	32084											
TMPRSS9	360200	genome.wustl.edu	37	chr19	2418044	2418044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcgtccgtgggcatcataGaccagaaaacctgtagtgtg	11	8	13	9	2	1	2	1	0	0	2	2	2	2	2	3	2	1	2	3	2	4	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:2418044G>A	ENST00000332578.3	+	12	1960	c.1960G>A	c.(1960-1962)Gac>Aac	p.D654N		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	654	Peptidase S1 2. {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)		GGGCATCATAGACCAGAAAAC	0.562																																																	0													197	186	190					19																	2418044		2203	4300	6503	SO:0001583	missense	0			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.1960G>A	19.37:g.2418044G>A	ENSP00000330264:p.Asp654Asn		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.D654N	ENST00000332578.3	37	c.1960	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653006	0.47362	.	.	ENSG00000178297	ENST00000332578	T	0.60299	0.2	4.28	4.28	0.50868	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.102758	0.42172	D	0.000748	T	0.58963	0.2159	L	0.33792	1.035	0.44995	D	0.998014	D	0.63046	0.992	D	0.63703	0.917	T	0.54221	-0.8326	10	0.02654	T	1	.	15.6427	0.77020	0.0:0.0:1.0:0.0	.	654	Q7Z410	TMPS9_HUMAN	N	654	ENSP00000330264:D654N	ENSP00000330264:D654N	D	+	1	0	TMPRSS9	2369044	0.998000	0.40836	0.980000	0.43619	0.183000	0.23260	3.570000	0.53834	2.112000	0.64535	0.542000	0.68232	GAC	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178297		0.562	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3		0	27	0	G	NM_182973		2418044	1			no_errors	ENST00000332578	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.995	A	A	2418044	G	A	2418044	3	1	123	1	0	0	0	0	1	0	0	0	16300	942	33	3	2006	3	TMPRSS9	19	2418044	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	139112	2418044	56710939	164	32085											
ZFR2	23217	genome.wustl.edu	37	chr19	3808898	3808898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	agcgtccctgtggccacgcaCtccaggactcgcctgactgc	6	7	11	17	3	0	1	0	1	0	0	3	2	2	2	4	2	2	1	4	2	0	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:3808898C>G	ENST00000262961.4	-	17	2527	c.2517G>C	c.(2515-2517)gaG>gaC	p.E839D		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	839	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)		TGGCCACGCACTCCAGGACTC	0.697																																																	0													11	15	14					19																	3808898		1999	4169	6168	SO:0001583	missense	0			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.2517G>C	19.37:g.3808898C>G	ENSP00000262961:p.Glu839Asp			Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.E839D	ENST00000262961.4	37	c.2517	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808047	0.50421	.	.	ENSG00000105278	ENST00000262961	T	0.50813	0.73	3.97	1.74	0.24563	DZF (2);	0.000000	0.64402	U	0.000004	T	0.68201	0.2975	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69217	-0.5203	10	0.87932	D	0	-33.761	6.4965	0.22146	0.0:0.763:0.0:0.237	.	839	Q9UPR6	ZFR2_HUMAN	D	839	ENSP00000262961:E839D	ENSP00000262961:E839D	E	-	3	2	ZFR2	3759898	0.990000	0.36364	1.000000	0.80357	0.435000	0.31806	0.172000	0.16704	0.883000	0.36040	0.484000	0.47621	GAG	ZFR2	-	pfam_DZF,smart_DZF	ENSG00000105278		0.697	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2		0	22	0	C	NM_015174		3808898	-1			no_errors	ENST00000262961	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	G	G	3808898	C	G	3808898	3	3	123	1	0	0	0	0	1	0	0	0	17708	564	20	5	314	5	ZFR2	19	3808898	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	1390854	3808898	55320085	165	32086											
INSR	3643	genome.wustl.edu	37	chr19	7152788	7152788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaaacgtcttcctaaacGaggactcctccagctccttc	9	10	5	17	2	2	0	1	0	1	0	7	2	6	1	5	1	3	1	5	1	3	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:7152788G>A	ENST00000302850.5	-	10	2322	c.2180C>T	c.(2179-2181)tCg>tTg	p.S727L	INSR_ENST00000341500.5_Missense_Mutation_p.S727L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	727					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CTTCCTAAACGAGGACTCCTC	0.542																																																	0													179	156	164					19																	7152788		2203	4300	6503	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2180C>T	19.37:g.7152788G>A	ENSP00000303830:p.Ser727Leu		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.S727L	ENST00000302850.5	37	c.2180	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127655	0.56721	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.71103	-0.54;-0.54	5.79	5.79	0.91817	Fibronectin, type III (2);	0.172994	0.27604	N	0.018626	T	0.70806	0.3266	M	0.69358	2.11	0.35447	D	0.79537	B;B;B	0.18968	0.032;0.013;0.003	B;B;B	0.15870	0.011;0.014;0.004	T	0.72530	-0.4265	10	0.48119	T	0.1	.	17.5318	0.87817	0.0:0.0:1.0:0.0	.	718;727;727	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	L	727	ENSP00000303830:S727L;ENSP00000342838:S727L	ENSP00000303830:S727L	S	-	2	0	INSR	7103788	1.000000	0.71417	0.129000	0.21949	0.797000	0.45037	6.407000	0.73280	2.746000	0.94184	0.603000	0.83216	TCG	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000171105		0.542	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1		0	20	0	G			7152788	-1			no_errors	ENST00000302850	ensembl	human	known	74_37	missense	38.46	32	20	SNP	0.739	A	A	7152788	G	A	7152788	3	1	123	1	0	0	0	0	1	0	0	0	7800	1059	37	1	2020	1	INSR	19	7152788	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	3343890	7152788	51976195	166	32087											
ZNF700	90592	genome.wustl.edu	37	chr19	12060418	12060418	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtcatttcaaacacatGaaaaaactcacactggagag	18	7	6	10	0	3	2	3	1	0	1	3	3	3	2	1	1	2	0	1	1	5	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:12060418G>T	ENST00000254321.5	+	4	1722	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Nonsense_Mutation_p.E509*|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	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)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCAAACACATGAAAAAACTCA	0.388																																																	0													63	66	65					19																	12060418		2203	4300	6503	SO:0001587	stop_gained	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1579G>T	19.37:g.12060418G>T	ENSP00000254321:p.Glu527*		B9EGU4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E527*	ENST00000254321.5	37	c.1579	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	18.61	3.660152	0.67586	.	.	ENSG00000196757	ENST00000254321	.	.	.	0.606	0.606	0.17559	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	5.9097	0.19020	0.0:0.5831:0.4169:0.0	.	.	.	.	X	527	.	ENSP00000254321:E527X	E	+	1	0	ZNF700	11921418	0.000000	0.05858	0.037000	0.18230	0.060000	0.15804	-1.291000	0.02775	0.577000	0.29470	0.195000	0.17529	GAA	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.388	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2		0	44	0	G	NM_144566		12060418	1			no_errors	ENST00000254321	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	0.962	T	T	12060418	G	T	12060418	4	4	123	1	0	0	0	0	0	1	0	0	18152	1291	45	3	1593	3	ZNF700	19	12060418	Nonsense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	4907630	12060418	47068565	167	32088											
DNAJB1	3337	genome.wustl.edu	37	chr19	14628955	14628955	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcgagcacacaccttcCtccccgtagcggtcgaagat	8	6	11	16	5	0	1	0	0	0	1	3	3	2	1	5	2	2	2	5	2	2	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:14628955C>T	ENST00000254322.2	-	1	277	c.207G>A	c.(205-207)gaG>gaA	p.E69E	DNAJB1_ENST00000396969.4_Intron	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	69	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		ACACACCTTCCTCCCCGTAGC	0.692																																																	0													28	21	23					19																	14628955		2200	4296	6496	SO:0001819	synonymous_variant	0			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"Heat shock proteins / DNAJ (HSP40)"	5270	protein-coding gene	gene with protein product	"radial spoke 16 homolog B (Chlamydomonas)"	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.207G>A	19.37:g.14628955C>T			B4DX52	Silent	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.E69	ENST00000254322.2	37	c.207	CCDS12312.1	19																																																																																			DNAJB1	-	superfamily_DnaJ_domain,prints_DnaJ_domain	ENSG00000132002		0.692	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB1	HGNC	protein_coding	OTTHUMT00000465987.1		0	54	0	C	NM_006145		14628955	-1			no_errors	ENST00000254322	ensembl	human	known	74_37	silent	51.06	23	24	SNP	1.000	T	T	14628955	C	T	14628955	2	4	123	1	0	0	0	0	0	0	0	1	4629	680	24	3		3	DNAJB1	19	14628955	Silent	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	2568537	14628955	44500028	168	32089											
OR10H4	126541	genome.wustl.edu	37	chr19	16059901	16059901	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacctcctgcccatcttGttcctgctgtacctcctgat	5	13	6	17	0	1	1	0	1	1	0	4	1	4	1	6	0	4	4	6	0	1	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:16059901G>C	ENST00000322107.1	+	1	84	c.84G>C	c.(82-84)ttG>ttC	p.L28F		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGCCCATCTTGTTCCTGCTGT	0.488																																																	0													299	266	277					19																	16059901		2203	4300	6503	SO:0001583	missense	0			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.84G>C	19.37:g.16059901G>C	ENSP00000318834:p.Leu28Phe		Q6IFJ2|Q96R57	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L28F	ENST00000322107.1	37	c.84	CCDS32941.1	19	.	.	.	.	.	.	.	.	.	.	g	2.400	-0.337738	0.05278	.	.	ENSG00000176231	ENST00000322107	T	0.17213	2.29	1.53	-3.06	0.05379	.	0.398568	0.18148	N	0.150196	T	0.09158	0.0226	L	0.35793	1.09	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.26643	-1.0097	10	0.23891	T	0.37	.	3.7771	0.08665	0.4268:0.3355:0.2377:0.0	.	28	Q8NGA5	O10H4_HUMAN	F	28	ENSP00000318834:L28F	ENSP00000318834:L28F	L	+	3	2	OR10H4	15920901	0.585000	0.26774	0.007000	0.13788	0.020000	0.10135	-0.109000	0.10840	-0.857000	0.04115	-0.529000	0.04317	TTG	OR10H4	-	prints_GPCR_Rhodpsn	ENSG00000176231		0.488	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H4	HGNC	protein_coding	OTTHUMT00000460311.1		0	90	0	G			16059901	1			no_errors	ENST00000322107	ensembl	human	known	74_37	missense	17.05	106	22	SNP	0.019	C	C	16059901	G	C	16059901	3	2	123	1	0	0	0	0	1	0	0	0	10947	1368	48	5	86	5	OR10H4	19	16059901	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	1430946	16059901	43069082	169	32090											
ZNF536	9745	genome.wustl.edu	37	chr19	30936483	30936483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	acgtgggcctggatgagcggCgtggctcgggcagtgaccag	6	6	19	10	4	0	2	0	2	0	0	1	3	0	3	2	5	1	2	2	5	0	0	rs542487578		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:30936483C>T	ENST00000355537.3	+	2	2161	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	672					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R672C(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGATGAGCGGCGTGGCTCGGG	0.692													C|||	1	0.000199681	0	0	5008	,	,		14366	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)											36	40	39					19																	30936483		2203	4298	6501	SO:0001583	missense	0				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.2014C>T	19.37:g.30936483C>T	ENSP00000347730:p.Arg672Cys		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R672C	ENST00000355537.3	37	c.2014	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918825	0.52546	.	.	ENSG00000198597	ENST00000355537	T	0.09911	2.93	5.42	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.19565	0.0470	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.03306	-1.1050	10	0.35671	T	0.21	-21.8718	15.5106	0.75779	0.1389:0.8611:0.0:0.0	.	672;672	A7E228;O15090	.;ZN536_HUMAN	C	672	ENSP00000347730:R672C	ENSP00000347730:R672C	R	+	1	0	ZNF536	35628323	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.532000	0.60608	2.509000	0.84616	0.655000	0.94253	CGT	ZNF536	-	NULL	ENSG00000198597		0.692	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2		0	53	0	C	NM_014717		30936483	1			no_errors	ENST00000355537	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.998	T	T	30936483	C	T	30936483	3	4	123	1	0	0	0	0	1	0	0	0	18022	768	27	1	2016	1	ZNF536	19	30936483	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	14876582	30936483	28192500	170	32091											
ZNF507	22847	genome.wustl.edu	37	chr19	32843902	32843902	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagttaagcaagatagtgGaaaatgaaaagtcacaaaaa	23	6	9	3	0	1	3	1	1	0	2	1	4	1	4	0	1	1	2	0	1	10	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:32843902G>T	ENST00000311921.4	+	2	358	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	ZNF507_ENST00000355898.5_Nonsense_Mutation_p.E56*|ZNF507_ENST00000544431.1_Nonsense_Mutation_p.E56*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CAAGATAGTGGAAAATGAAAA	0.368																																																	0													70	69	69					19																	32843902		2203	4300	6503	SO:0001587	stop_gained	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.166G>T	19.37:g.32843902G>T	ENSP00000312277:p.Glu56*		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E56*	ENST00000311921.4	37	c.166	CCDS32985.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.359982	0.97502	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	.	.	.	5.5	5.5	0.81552	.	0.046487	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.7624	0.96325	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000312277:E56X	E	+	1	0	ZNF507	37535742	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.927000	0.92846	2.739000	0.93911	0.491000	0.48974	GAA	ZNF507	-	NULL	ENSG00000168813		0.368	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3		0	42	0	G	NM_014910		32843902	1			no_errors	ENST00000311921	ensembl	human	known	74_37	nonsense	11.11	24	3	SNP	1.000	T	T	32843902	G	T	32843902	4	4	123	1	0	0	0	0	0	1	0	0	18001	1175	41	3	168	3	ZNF507	19	32843902	Nonsense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	1907419	32843902	26285081	171	32092											
SBSN	374897	genome.wustl.edu	37	chr19	36018326	36018326	+	Silent	SNP	A	A	G	1	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	gcctccttcccaacctgaccAgcagtatggtggaccccctg	7	8	9	17	0	0	1	0	1	0	0	2	2	2	2	7	2	2	2	7	2	2	2	rs77512068	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:36018326A>G	ENST00000452271.2	-	1	886	c.858T>C	c.(856-858)gcT>gcC	p.A286A	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	286	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAACCTGACCAGCAGTATGGT	0.632													a|||	11	0.00219649	0.0038	0.0043	5008	,	,		21785	0.002		0.001	False		,,,				2504	0																0													65	69	68					19																	36018326		692	1591	2283	SO:0001819	synonymous_variant	0			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.858T>C	19.37:g.36018326A>G			A8K5J0|E9PBV3	Silent	SNP	NULL	p.A286	ENST00000452271.2	37	c.858	CCDS54253.1	19																																																																																			SBSN	-	NULL	ENSG00000189001		0.632	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SBSN	HGNC	protein_coding	OTTHUMT00000109463.3		0	134	0	A	NM_198538		36018326	-1			no_errors	ENST00000452271	ensembl	human	novel	74_37	silent	5.08	111	6	SNP	0.000	G	G	36018326	A	G	36018326	2	3	123	1	0	0	0	0	0	0	0	1	13909	175	7	4		4	SBSN	19	36018326	Silent	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	3174424	36018326	23110657	172	32093											
ZNF540	163255	genome.wustl.edu	37	chr19	38103939	38103939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtaaagaatgtgggaaGgcctttagtcgtagtgtaga	14	11	13	3	1	0	2	0	0	0	2	1	3	0	3	1	2	0	3	1	2	8	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:38103939G>T	ENST00000592533.1	+	5	2090	c.1758G>T	c.(1756-1758)aaG>aaT	p.K586N	ZNF540_ENST00000343599.5_Missense_Mutation_p.K586N|ZNF540_ENST00000589117.1_Missense_Mutation_p.K554N|ZNF540_ENST00000316433.4_Missense_Mutation_p.K586N	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	586					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGAAGGCCTTTAGTC	0.398																																																	0													74	77	76					19																	38103939		2203	4300	6503	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1758G>T	19.37:g.38103939G>T	ENSP00000466274:p.Lys586Asn		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K586N	ENST00000592533.1	37	c.1758	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592214	0.66219	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T;T	0.27890	1.64;3.15	2.27	-3.0	0.05480	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52741	0.1753	M	0.84683	2.71	0.19775	N	0.99995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.46527	-0.9185	9	0.72032	D	0.01	.	7.9953	0.30265	0.7522:0.0:0.2478:0.0	.	554;586	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	N	586;554	ENSP00000324598:K586N;ENSP00000343768:K554N	ENSP00000324598:K586N	K	+	3	2	ZNF540	42795779	0.000000	0.05858	0.094000	0.20943	0.983000	0.72400	-0.426000	0.07008	-0.512000	0.06505	0.305000	0.20034	AAG	ZNF540	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.398	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1		0	40	0	G	NM_152606		38103939	1			no_errors	ENST00000316433	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.226	T	T	38103939	G	T	38103939	3	4	123	1	0	0	0	0	1	0	0	0	18023	991	35	3	1772	3	ZNF540	19	38103939	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	2085613	38103939	21025044	173	32094											
SPTBN4	57731	genome.wustl.edu	37	chr19	41029495	41029495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagggcctgctgaggcaggGcaacatctacggggagcagg	10	4	18	9	1	1	2	0	1	1	1	1	3	1	3	1	6	4	4	1	6	2	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:41029495G>A	ENST00000352632.3	+	17	3892	c.3806G>A	c.(3805-3807)gGc>gAc	p.G1269D	SPTBN4_ENST00000595535.1_Missense_Mutation_p.G1269D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G1269D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.G1269D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G1269D|SPTBN4_ENST00000392025.1_5'Flank			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1269					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)			CTGAGGCAGGGCAACATCTAC	0.632																																																	0													58	50	53					19																	41029495		2203	4300	6503	SO:0001583	missense	0			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.3806G>A	19.37:g.41029495G>A	ENSP00000263373:p.Gly1269Asp		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.G1269D	ENST00000352632.3	37	c.3806	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	g	12.08	1.831395	0.32329	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.36340	1.26;1.28;1.28	4.31	3.24	0.37175	.	0.366608	0.25004	U	0.033887	T	0.28300	0.0699	L	0.36672	1.1	0.80722	D	1	B;B	0.23377	0.084;0.053	B;B	0.28638	0.014;0.092	T	0.06954	-1.0798	10	0.25751	T	0.34	.	11.5693	0.50824	0.093:0.0:0.907:0.0	.	1269;1269	Q9H254;Q71S06	SPTN4_HUMAN;.	D	1269	ENSP00000263373:G1269D;ENSP00000340345:G1269D;ENSP00000340741:G1269D	ENSP00000340345:G1269D	G	+	2	0	SPTBN4	45721335	0.997000	0.39634	1.000000	0.80357	0.396000	0.30629	2.647000	0.46639	2.245000	0.73994	0.165000	0.16767	GGC	SPTBN4	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin	ENSG00000160460		0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2		0	42	0	G			41029495	1			no_errors	ENST00000352632	ensembl	human	known	74_37	missense	15.62	26	5	SNP	0.999	A	A	41029495	G	A	41029495	3	1	123	1	0	0	0	0	1	0	0	0	15168	1203	42	3	3868	3	SPTBN4	19	41029495	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	2925556	41029495	18099488	174	32095											
LIPE	3991	genome.wustl.edu	37	chr19	42914736	42914736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtgcgccaggcagcagCgggctgtgtgcactaggctg	6	6	19	10	2	0	0	0	0	0	0	0	1	0	1	1	5	4	5	1	5	1	1	rs141806189		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:42914736C>T	ENST00000244289.4	-	2	1418	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	381					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)				CAGGCAGCAGCGGGCTGTGTG	0.682																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	43	39	40		1142	4.9	1	19	dbSNP_134	40	0,8598		0,0,4299	no	missense	LIPE	NM_005357.2	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	381/1077	42914736	1,13003	2203	4299	6502	SO:0001583	missense	0			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.1142G>A	19.37:g.42914736C>T	ENSP00000244289:p.Arg381His		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.R381H	ENST00000244289.4	37	c.1142	CCDS12607.1	19	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139148	0.77775	2.27E-4	0.0	ENSG00000079435	ENST00000244289	T	0.31247	1.5	4.95	4.95	0.65309	Hormone-sensitive lipase, N-terminal (1);	0.242388	0.34110	N	0.004252	T	0.41627	0.1167	L	0.27053	0.805	0.46458	D	0.999051	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.12785	-1.0534	10	0.30078	T	0.28	-16.9627	15.4746	0.75468	0.0:1.0:0.0:0.0	.	381;381	A8K8W7;Q05469	.;LIPS_HUMAN	H	381	ENSP00000244289:R381H	ENSP00000244289:R381H	R	-	2	0	LIPE	47606576	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.555000	0.60767	2.479000	0.83701	0.455000	0.32223	CGC	LIPE	-	pfam_HSL_N	ENSG00000079435		0.682	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1		0	29	0	C	NM_005357		42914736	-1			no_errors	ENST00000244289	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	T	T	42914736	C	T	42914736	3	4	123	1	0	0	0	0	1	0	0	0	8851	768	27	1	2124	1	LIPE	19	42914736	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	1885241	42914736	16214247	175	32096											
ZNF222	7673	genome.wustl.edu	37	chr19	44536478	44536478	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgtagatcagcacttaaAgttcattgcaaattacacat	16	12	6	7	0	2	2	2	0	0	2	2	2	2	2	0	0	3	4	0	0	5	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:44536478A>G	ENST00000187879.8	+	4	813	c.651A>G	c.(649-651)aaA>aaG	p.K217K	ZNF222_ENST00000391960.3_Silent_p.K257K|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	217					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(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CAGCACTTAAAGTTCATTGCA	0.408																																																	0													138	141	140					19																	44536478		2203	4300	6503	SO:0001819	synonymous_variant	0			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"Zinc fingers, C2H2-type", "-"	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.651A>G	19.37:g.44536478A>G			G5E9B9|Q8N6G7|Q9P1U5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K257	ENST00000187879.8	37	c.771	CCDS33045.1	19																																																																																			ZNF222	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000159885		0.408	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2		0	51	0	A			44536478	1			no_errors	ENST00000391960	ensembl	human	known	74_37	silent	39.22	31	20	SNP	0.000	G	G	44536478	A	G	44536478	2	3	123	1	0	0	0	0	0	0	0	1	17824	69	3	4		4	ZNF222	19	44536478	Silent	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	1621742	44536478	14592505	176	32097											
ZNF233	353355	genome.wustl.edu	37	chr19	44777239	44777239	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgattccccctgtcaGgtgtggacaggagaatctag	10	9	13	9	0	2	2	1	1	1	1	3	4	3	3	2	4	0	0	2	4	3	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:44777239G>A	ENST00000391958.2	+	5	553	c.426G>A	c.(424-426)caG>caA	p.Q142Q	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	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(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)				CCCCCTGTCAGGTGTGGACAG	0.383																																																	0													65	66	66					19																	44777239		2203	4300	6503	SO:0001819	synonymous_variant	0			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.426G>A	19.37:g.44777239G>A			B2RN78|B2RN79|Q86WL8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q142	ENST00000391958.2	37	c.426	CCDS33047.1	19																																																																																			ZNF233	-	NULL	ENSG00000159915		0.383	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1		0	27	0	G	NM_181756		44777239	1			no_errors	ENST00000391958	ensembl	human	known	74_37	silent	40.54	22	15	SNP	0.006	A	A	44777239	G	A	44777239	2	1	123	1	0	0	0	0	0	0	0	1	17834	991	35	3		3	ZNF233	19	44777239	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	240761	44777239	14351744	177	32098											
IRF3	3661	genome.wustl.edu	37	chr19	50163082	50163082	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaggccctgaggcacgtGggcacaacctgcaggggaag	11	3	15	12	1	0	1	0	1	0	0	0	2	0	2	3	5	2	3	3	5	3	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:50163082G>A	ENST00000597198.1	-	8	1488	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P	IRF3_ENST00000596822.1_Missense_Mutation_p.H58Y|IRF3_ENST00000599223.1_Silent_p.P242P|IRF3_ENST00000309877.7_Silent_p.P369P|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000600022.1_Silent_p.P96P|IRF3_ENST00000601291.1_Missense_Mutation_p.H375Y|IRF3_ENST00000593922.1_Silent_p.P223P|IRF3_ENST00000599144.1_Silent_p.P223P|IRF3_ENST00000600911.1_Missense_Mutation_p.H331Y|IRF3_ENST00000596765.1_Silent_p.P96P|IRF3_ENST00000377139.3_Silent_p.P369P|IRF3_ENST00000598808.1_Silent_p.P223P|IRF3_ENST00000377135.4_Silent_p.P242P			Q14653	IRF3_HUMAN	interferon regulatory factor 3	369					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGAGGCACGTGGGCACAACCT	0.607																																																	0													58	57	57					19																	50163082		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.1107C>T	19.37:g.50163082G>A			A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.H375Y	ENST00000597198.1	37	c.1123	CCDS12775.1	19																																																																																			IRF3	-	NULL	ENSG00000126456		0.607	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IRF3	HGNC	protein_coding	OTTHUMT00000465962.1		0	48	0	G	NM_001571		50163082	-1			no_errors	ENST00000601291	ensembl	human	putative	74_37	missense	6.56	57	4	SNP	0.996	A	A	50163082	G	A	50163082	2	1	123	1	0	0	0	0	0	0	0	1	7858	1335	47	3		3	IRF3	19	50163082	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	5385843	50163082	8965901	178	32099											
C19orf41	126123	genome.wustl.edu	37	chr19	50666269	50666269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcccggaagaaaggcccCtccatgcccatcagcacggc	10	5	10	16	2	1	1	1	0	0	1	3	2	3	2	5	3	2	1	5	3	3	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:50666269C>G	ENST00000293405.3	-	1	183	c.183G>C	c.(181-183)gaG>gaC	p.E61D		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	61						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						AGAAAGGCCCCTCCATGCCCA	0.672																																																	0													41	47	45					19																	50666269		1989	4160	6149	SO:0001583	missense	0			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.183G>C	19.37:g.50666269C>G	ENSP00000293405:p.Glu61Asp		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	NULL	p.E61D	ENST00000293405.3	37	c.183	CCDS12792.2	19	.	.	.	.	.	.	.	.	.	.	C	15.74	2.924107	0.52653	.	.	ENSG00000161652	ENST00000293405;ENST00000377000	T	0.25912	1.77	3.49	0.105	0.14535	.	0.882121	0.09398	N	0.807645	T	0.24699	0.0599	L	0.34521	1.04	0.25516	N	0.987411	D	0.56035	0.974	P	0.51487	0.671	T	0.17561	-1.0365	10	0.44086	T	0.13	.	5.4147	0.16368	0.0:0.5907:0.0:0.4093	.	61	Q6UXV1	IZUM2_HUMAN	D	61	ENSP00000293405:E61D	ENSP00000293405:E61D	E	-	3	2	IZUMO2	55358081	0.995000	0.38212	0.998000	0.56505	0.555000	0.35460	0.440000	0.21592	0.101000	0.17610	-0.142000	0.14014	GAG	IZUMO2	-	NULL	ENSG00000161652		0.672	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IZUMO2	HGNC	protein_coding	OTTHUMT00000157232.1		0	49	0	C	NM_152358		50666269	-1			no_errors	ENST00000293405	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.998	G	G	50666269	C	G	50666269	3	3	123	1	0	0	0	0	1	0	0	0	1931	680	24	5	510	5	C19orf41	19	50666269	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	503187	50666269	8462714	179	32100											
ZNF841	284371	genome.wustl.edu	37	chr19	52570427	52570427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaaaatcattcccatatttCctagaaatgttggtttggac	14	14	6	7	0	1	1	1	0	0	1	3	2	3	2	2	2	0	2	2	2	6	6			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:52570427C>A	ENST00000426391.2	-	5	911	c.360G>T	c.(358-360)agG>agT	p.R120S	ZNF841_ENST00000594295.1_Missense_Mutation_p.R236S|ZNF841_ENST00000389534.4_Missense_Mutation_p.R236S|ZNF841_ENST00000359973.2_Missense_Mutation_p.R120S|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TCCCATATTTCCTAGAAATGT	0.338																																																	0													104	82	88					19																	52570427		692	1591	2283	SO:0001583	missense	0			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.360G>T	19.37:g.52570427C>A	ENSP00000415453:p.Arg120Ser		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R236S	ENST00000426391.2	37	c.708		19	.	.	.	.	.	.	.	.	.	.	C	6.341	0.431059	0.12045	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.07800	3.55;3.39;3.16	1.74	-3.48	0.04739	.	.	.	.	.	T	0.01765	0.0056	N	0.01649	-0.78	0.09310	N	1	P;B;B	0.36535	0.557;0.01;0.006	B;B;B	0.28139	0.086;0.009;0.004	T	0.36407	-0.9749	9	0.29301	T	0.29	.	0.5947	0.00734	0.385:0.1799:0.2657:0.1694	.	236;120;120	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	S	236;120;120	ENSP00000374185:R236S;ENSP00000415453:R120S;ENSP00000353060:R120S	ENSP00000353060:R120S	R	-	3	2	ZNF841	57262239	0.000000	0.05858	0.000000	0.03702	0.363000	0.29612	-3.591000	0.00421	-1.299000	0.02344	-0.657000	0.03884	AGG	ZNF841	-	NULL	ENSG00000197608		0.338	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1		0	70	0	C	XM_209155		52570427	-1			no_errors	ENST00000389534	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	A	A	52570427	C	A	52570427	3	1	123	1	0	0	0	0	1	0	0	0	18237	854	30	3	2070	3	ZNF841	19	52570427	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	1904158	52570427	6558556	180	32101											
ZNF471	57573	genome.wustl.edu	37	chr19	57037094	57037094	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgaatgcgggaaagccttcaGccaaacttccaatcttactc	12	10	7	12	1	2	1	1	1	1	0	4	2	3	2	3	1	5	0	3	1	5	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:57037094G>T	ENST00000308031.5	+	5	1791	c.1658G>T	c.(1657-1659)aGc>aTc	p.S553I	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AAAGCCTTCAGCCAAACTTCC	0.398																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													93	96	95					19																	57037094		2203	4300	6503	SO:0001583	missense	0			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1658G>T	19.37:g.57037094G>T	ENSP00000309161:p.Ser553Ile		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S553I	ENST00000308031.5	37	c.1658	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061841	0.36373	.	.	ENSG00000196263	ENST00000308031	T	0.05025	3.51	3.9	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13713	0.0332	L	0.56340	1.77	0.22317	N	0.999203	D	0.65815	0.995	P	0.61800	0.894	T	0.17806	-1.0357	9	0.27785	T	0.31	.	7.4468	0.27215	0.1045:0.4815:0.414:0.0	.	553	Q9BX82	ZN471_HUMAN	I	553	ENSP00000309161:S553I	ENSP00000309161:S553I	S	+	2	0	ZNF471	61728906	0.000000	0.05858	0.160000	0.22671	0.956000	0.61745	-1.073000	0.03430	0.800000	0.34041	0.462000	0.41574	AGC	ZNF471	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196263		0.398	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1		0	41	0	G	NM_020813		57037094	1			no_errors	ENST00000308031	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.148	T	T	57037094	G	T	57037094	3	4	123	1	0	0	0	0	1	0	0	0	17978	971	34	3	1672	3	ZNF471	19	57037094	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	4466667	57037094	2091889	181	32102											
ZNF17	7565	genome.wustl.edu	37	chr19	57932243	57932243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacactgaatagacatcaGagagttcactctggagagag	14	9	10	8	0	4	4	3	1	1	3	4	7	4	5	0	1	0	1	0	1	2	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:57932243G>T	ENST00000601808.1	+	3	1596	c.1383G>T	c.(1381-1383)caG>caT	p.Q461H	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.Q463H	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		ATAGACATCAGAGAGTTCACT	0.413																																					Melanoma(149;1637 1853 29914 42869 44988)												0													87	91	90					19																	57932243		2188	4293	6481	SO:0001583	missense	0			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.1383G>T	19.37:g.57932243G>T	ENSP00000471905:p.Gln461His		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q461H	ENST00000601808.1	37	c.1383	CCDS42636.1	19	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707682	0.30322	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.72	-1.54	0.08584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40498	0.1119	M	0.83384	2.64	0.22719	N	0.998819	P;B	0.48911	0.917;0.092	B;B	0.40009	0.316;0.021	T	0.34850	-0.9812	8	0.59425	D	0.04	.	5.5836	0.17262	0.0:0.4081:0.3851:0.2068	.	463;461	P17021-2;P17021	.;ZNF17_HUMAN	H	461	.	ENSP00000302455:Q461H	Q	+	3	2	ZNF17	62624055	0.010000	0.17322	0.123000	0.21794	0.867000	0.49689	0.706000	0.25690	-0.474000	0.06862	0.467000	0.42956	CAG	ZNF17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186272		0.413	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1		0	32	0	G	NM_006959		57932243	1			no_errors	ENST00000601808	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.905	T	T	57932243	G	T	57932243	3	4	123	1	0	0	0	0	1	0	0	0	17791	933	33	3	1393	3	ZNF17	19	57932243	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	895149	57932243	1196740	182	32103											
ZNF549	256051	genome.wustl.edu	37	chr19	58046597	58046597	+	Missense_Mutation	SNP	A	A	T	1	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	agctcaaaggtgcctgtatcAtgatgtgatgctggagaact	11	11	12	7	0	2	3	2	2	0	1	2	4	2	3	1	2	4	3	1	2	3	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:58046597A>T	ENST00000376233.3	+	3	339	c.158A>T	c.(157-159)cAt>cTt	p.H53L	ZNF549_ENST00000602149.1_Missense_Mutation_p.H53L|ZNF549_ENST00000240719.3_Missense_Mutation_p.H40L|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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)		TGCCTGTATCATGATGTGATG	0.502																																																	0													207	180	189					19																	58046597		2203	4300	6503	SO:0001583	missense	0			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"Zinc fingers, C2H2-type", "-"	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.158A>T	19.37:g.58046597A>T	ENSP00000365407:p.His53Leu		B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H53L	ENST00000376233.3	37	c.158	CCDS56106.1	19	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.811176	0.00600	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.01647	4.71;4.71	2.66	-0.628	0.11537	Krueppel-associated box (4);	.	.	.	.	T	0.01061	0.0035	N	0.16233	0.39	0.09310	N	1	B;B	0.17667	0.008;0.023	B;B	0.22386	0.018;0.039	T	0.49370	-0.8947	9	0.12430	T	0.62	.	1.8387	0.03145	0.4338:0.0:0.301:0.2652	.	53;40	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	L	40;53	ENSP00000240719:H40L;ENSP00000365407:H53L	ENSP00000240719:H40L	H	+	2	0	ZNF549	62738409	0.000000	0.05858	0.000000	0.03702	0.250000	0.25880	-1.136000	0.03222	-0.125000	0.11703	0.533000	0.62120	CAT	ZNF549	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000121406		0.502	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF549	HGNC	protein_coding	OTTHUMT00000466780.1		0	83	0	A	NM_153263		58046597	1			no_errors	ENST00000376233	ensembl	human	known	74_37	missense	45.45	42	35	SNP	0.000	T	T	58046597	A	T	58046597	3	4	123	1	0	0	0	0	1	0	0	0	18029	217	8	5	125	5	ZNF549	19	58046597	Missense_Mutation	SNP	A	TCGA-LN-A5U7-01A-11D-A31U-09	114354	58046597	1082386	183	32104											
C20orf194	25943	genome.wustl.edu	37	chr20	3240608	3240608	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagtcttctccaagggacgGccaaaccatacgcagatctg	11	7	10	13	3	3	1	0	0	3	1	4	3	3	2	3	2	2	1	3	2	3	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr20:3240608G>A	ENST00000252032.9	-	32	3007	c.2940C>T	c.(2938-2940)ggC>ggT	p.G980G	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	980										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CCAAGGGACGGCCAAACCATA	0.433																																																	0													68	66	66					20																	3240608		1924	4126	6050	SO:0001819	synonymous_variant	0			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.2940C>T	20.37:g.3240608G>A			Q66K86|Q6P2R9|Q9UFX9	Silent	SNP	NULL	p.G980	ENST00000252032.9	37	c.2940	CCDS42851.1	20																																																																																			C20orf194	-	NULL	ENSG00000088854		0.433	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1		0	41	0	G	NM_001009984		3240608	-1			no_errors	ENST00000252032	ensembl	human	known	74_37	silent	18.64	48	11	SNP	0.939	A	A	3240608	G	A	3240608	2	1	123	1	0	0	0	0	0	0	0	1	2106	1190	42	3		3	C20orf194	20	3240608	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09		3240608	59784912	184	32105											
ZNF337	26152	genome.wustl.edu	37	chr20	25666286	25666286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgatgagttctggtttaGaatggagaattcctgctcac	9	13	11	8	0	2	4	1	2	1	2	3	5	3	4	2	2	1	3	2	2	3	4	rs139245838	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr20:25666286G>T	ENST00000376436.1	-	3	706	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000252979.5_Missense_Mutation_p.S56Y|ZNF337_ENST00000481610.1_5'UTR			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	56	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)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCTGGTTTAGAATGGAGAAT	0.587																																																	0													108	109	109					20																	25666286		2203	4300	6503	SO:0001583	missense	0				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.167C>A	20.37:g.25666286G>T	ENSP00000365619:p.Ser56Tyr		B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S56Y	ENST00000376436.1	37	c.167	CCDS13174.1	20	.	.	.	.	.	.	.	.	.	.	.	3.976	-0.007342	0.07773	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412	T;T	0.00864	5.6;5.6	1.85	0.789	0.18607	Krueppel-associated box (3);	.	.	.	.	T	0.01092	0.0036	M	0.75777	2.31	0.09310	N	0.999999	D	0.54964	0.969	B	0.38106	0.265	T	0.35724	-0.9777	9	0.06099	T	0.92	.	7.3839	0.26872	0.0:0.2758:0.7242:0.0	.	56	Q9Y3M9	ZN337_HUMAN	Y	56	ENSP00000365619:S56Y;ENSP00000252979:S56Y	ENSP00000252979:S56Y	S	-	2	0	ZNF337	25614286	0.352000	0.24895	0.098000	0.21074	0.810000	0.45777	1.271000	0.33098	-0.027000	0.13873	0.461000	0.40582	TCT	ZNF337	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000130684		0.587	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF337	HGNC	protein_coding	OTTHUMT00000078454.1		0	41	0	G			25666286	-1			no_errors	ENST00000252979	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.019	T	T	25666286	G	T	25666286	3	4	123	1	0	0	0	0	1	0	0	0	17901	942	33	3	2096	3	ZNF337	20	25666286	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	22425678	25666286	37359234	185	32106											
PTGIS	5740	genome.wustl.edu	37	chr20	48127675	48127675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtaaaagtctttcttCtctgatccgtcagggttcag	7	16	8	10	1	5	1	2	1	3	0	8	1	7	1	2	1	0	2	2	1	2	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr20:48127675C>A	ENST00000244043.4	-	9	1277	c.1248G>T	c.(1246-1248)gaG>gaT	p.E416D	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	416					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	AGTCTTTCTTCTCTGATCCGT	0.483																																																	0													71	63	66					20																	48127675		2203	4300	6503	SO:0001583	missense	0				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1248G>T	20.37:g.48127675C>A	ENSP00000244043:p.Glu416Asp		Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.E416D	ENST00000244043.4	37	c.1248	CCDS13419.1	20	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082692	0.76528	.	.	ENSG00000124212	ENST00000244043	T	0.64438	-0.1	5.26	4.31	0.51392	.	0.245991	0.38217	N	0.001762	T	0.62392	0.2424	L	0.48642	1.525	0.52099	D	0.99994	D	0.56521	0.976	P	0.53360	0.724	T	0.59830	-0.7380	10	0.34782	T	0.22	-15.8265	9.1836	0.37156	0.0:0.8207:0.0:0.1793	.	416	Q16647	PTGIS_HUMAN	D	416	ENSP00000244043:E416D	ENSP00000244043:E416D	E	-	3	2	PTGIS	47561082	0.998000	0.40836	0.999000	0.59377	0.997000	0.91878	0.677000	0.25262	1.188000	0.43014	0.561000	0.74099	GAG	PTGIS	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000124212		0.483	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGIS	HGNC	protein_coding	OTTHUMT00000080496.2		0	28	0	C			48127675	-1			no_errors	ENST00000244043	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	A	A	48127675	C	A	48127675	3	1	123	1	0	0	0	0	1	0	0	0	12795	912	32	3	262	3	PTGIS	20	48127675	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	22461389	48127675	14897845	186	32107											
PTPN1	5770	genome.wustl.edu	37	chr20	49195772	49195772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttagaaatgaggaagtttcGgatggggctgatccagacag	12	9	15	5	1	0	4	0	2	0	2	2	6	1	6	1	4	0	3	1	4	3	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr20:49195772G>A	ENST00000371621.3	+	7	944	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	PTPN1_ENST00000541713.1_Missense_Mutation_p.R184Q|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	257	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)	AGGAAGTTTCGGATGGGGCTG	0.512																																																	0													141	144	143					20																	49195772		2203	4300	6503	SO:0001583	missense	0				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.770G>A	20.37:g.49195772G>A	ENSP00000360683:p.Arg257Gln		Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R257Q	ENST00000371621.3	37	c.770	CCDS13430.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.310678	0.95629	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	D;D	0.93366	-3.21;-3.21	5.64	4.7	0.59300	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000008	D	0.97810	0.9281	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98874	1.0767	10	0.87932	D	0	.	14.5221	0.67856	0.0704:0.0:0.9296:0.0	.	257	P18031	PTN1_HUMAN	Q	257;184	ENSP00000360683:R257Q;ENSP00000437732:R184Q	ENSP00000360683:R257Q	R	+	2	0	PTPN1	48629179	1.000000	0.71417	0.943000	0.38184	0.983000	0.72400	9.869000	0.99810	1.382000	0.46385	0.563000	0.77884	CGG	PTPN1	-	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000196396		0.512	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN1	HGNC	protein_coding	OTTHUMT00000079694.2		0	48	0	G			49195772	1			no_errors	ENST00000371621	ensembl	human	known	74_37	missense	50.75	33	34	SNP	0.999	A	A	49195772	G	A	49195772	3	1	123	1	0	0	0	0	1	0	0	0	12822	1116	39	1	796	1	PTPN1	20	49195772	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	1068097	49195772	13829748	187	32108											
TUBB1	81027	genome.wustl.edu	37	chr20	57599009	57599009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgccttctcccaaggtgtCggacactgtggtggagccct	6	10	12	13	1	1	0	0	0	1	0	3	2	1	2	3	4	2	0	3	4	1	1	rs369101405		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr20:57599009C>T	ENST00000217133.1	+	4	796	c.527C>T	c.(526-528)tCg>tTg	p.S176L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	176					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CCCAAGGTGTCGGACACTGTG	0.532																																																	0								C	LEU/SER	0,4406		0,0,2203	128	126	127		527	5.4	1	20		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	TUBB1	NM_030773.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	176/452	57599009	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.527C>T	20.37:g.57599009C>T	ENSP00000217133:p.Ser176Leu			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.S176L	ENST00000217133.1	37	c.527	CCDS13475.1	20	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024408	0.93518	0.0	1.16E-4	ENSG00000101162	ENST00000217133	T	0.71579	-0.58	5.39	5.39	0.77823	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95248	0.8357	10	0.87932	D	0	.	18.1144	0.89546	0.0:1.0:0.0:0.0	.	176	Q9H4B7	TBB1_HUMAN	L	176	ENSP00000217133:S176L	ENSP00000217133:S176L	S	+	2	0	TUBB1	57032404	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.818000	0.86416	2.537000	0.85549	0.655000	0.94253	TCG	TUBB1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000101162		0.532	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1		0	48	0	C	NM_030773		57599009	1			no_errors	ENST00000217133	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	57599009	C	T	57599009	3	4	123	1	0	0	0	0	1	0	0	0	16802	893	31	1	541	1	TUBB1	20	57599009	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	8403237	57599009	5426511	188	32109											
RNF160	26046	genome.wustl.edu	37	chr21	30342970	30342971	+	Frame_Shift_Ins	INS	-	-	A																															gaatggcagaaggtaaggatINSatatgacagtagctagaccc																										TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr21:30342970_30342971insA	ENST00000361371.5	-	8	1157_1158	c.1078_1079insT	c.(1078-1080)tatfs	p.Y360fs	LTN1_ENST00000389195.2_Frame_Shift_Ins_p.Y406fs|LTN1_ENST00000389194.2_Frame_Shift_Ins_p.Y406fs			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	360					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						AAGGTAAGGATATATGACAGTA	0.431																																																	0																																										SO:0001589	frameshift_variant	0			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.1079dupT	21.37:g.30342971_30342971dupA	ENSP00000354977:p.Tyr360fs		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Frame_Shift_Ins	INS	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.Y406fs	ENST00000361371.5	37	c.1217_1216		21																																																																																			LTN1	-	superfamily_ARM-type_fold	ENSG00000198862		0.431	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1		0	55	0	0	NM_015565		30342971	-1			no_errors	ENST00000389194	ensembl	human	known	74_37	frame_shift_ins	60.00	16	24	INS	1.000:0.999	A	A	30342971	-	A	30342970	7	5	123	1	0	1	1	0	0	0	0	0	13500	1406	49	0	4313	0	RNF160	21	30342970	Frame_Shift_Ins	INS	-	TCGA-LN-A5U7-01A-11D-A31U-09		30342970	17786925	189	32110											
GART	2618	genome.wustl.edu	37	chr21	34901225	34901225	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagtatctttaatttttaGtaatagatcattagaaacct	16	16	4	5	0	2	2	1	0	1	2	2	2	2	2	1	0	2	2	1	0	8	9			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr21:34901225G>C	ENST00000381831.3	-	8	1005	c.742C>G	c.(742-744)Cta>Gta	p.L248V	GART_ENST00000381839.3_Missense_Mutation_p.L248V|GART_ENST00000381815.4_Missense_Mutation_p.L248V|GART_ENST00000497313.1_5'Flank|GART_ENST00000361093.5_Missense_Mutation_p.L248V	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	248	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)	TTAATTTTTAGTAATAGATCA	0.403																																																	0													92	88	89					21																	34901225		2203	4300	6503	SO:0001583	missense	0			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.742C>G	21.37:g.34901225G>C	ENSP00000371253:p.Leu248Val		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.L248V	ENST00000381831.3	37	c.742	CCDS13627.1	21	.	.	.	.	.	.	.	.	.	.	G	9.450	1.090450	0.20471	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.41	3.3	0.37823	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (1);	0.196102	0.44097	N	0.000491	T	0.21674	0.0522	L	0.39245	1.2	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06991	-1.0796	10	0.42905	T	0.14	-5.0795	5.823	0.18538	0.1681:0.1996:0.6323:0.0	.	248	P22102	PUR2_HUMAN	V	248	ENSP00000371236:L248V;ENSP00000371253:L248V;ENSP00000371261:L248V;ENSP00000354388:L248V	ENSP00000354388:L248V	L	-	1	2	GART	33823095	0.729000	0.28090	0.967000	0.41034	0.460000	0.32559	0.670000	0.25157	1.249000	0.43950	0.650000	0.86243	CTA	GART	-	pfam_PRibGlycinamid_synth_ATP-grasp,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth	ENSG00000159131		0.403	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3		0	62	0	G	NM_000819		34901225	-1			no_errors	ENST00000381815	ensembl	human	known	74_37	missense	47.17	28	25	SNP	0.996	C	C	34901225	G	C	34901225	3	2	123	1	0	0	0	0	1	0	0	0	6268	1020	36	5	2354	5	GART	21	34901225	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	4558255	34901225	13228670	190	32111											
TTC3	7267	genome.wustl.edu	37	chr21	38467699	38467699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagttttccaaagaaaGatttgatatagctattatct	15	15	7	4	0	1	5	0	2	1	3	2	5	2	5	1	0	1	2	1	0	7	7			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr21:38467699G>T	ENST00000399017.2	+	9	3484	c.737G>T	c.(736-738)aGa>aTa	p.R246I	TTC3_ENST00000399010.1_Missense_Mutation_p.R246I|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.R246I|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000354749.2_Missense_Mutation_p.R246I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	246					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)				TCCAAAGAAAGATTTGATATA	0.338																																					Ovarian(38;194 1649 35661)												0													78	83	81					21																	38467699		2203	4297	6500	SO:0001583	missense	0			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.737G>T	21.37:g.38467699G>T	ENSP00000381981:p.Arg246Ile		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.R246I	ENST00000399017.2	37	c.737	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940525	0.73557	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17	5.43	3.57	0.40892	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.209244	0.33127	N	0.005241	T	0.68165	0.2971	M	0.69823	2.125	0.80722	D	1	D	0.62365	0.991	D	0.64877	0.93	T	0.69636	-0.5092	10	0.72032	D	0.01	-21.4213	6.3123	0.21171	0.2805:0.0:0.7195:0.0	.	246	P53804	TTC3_HUMAN	I	246;246;228;246;246;246;246	ENSP00000403943:R246I;ENSP00000408456:R246I;ENSP00000391891:R228I;ENSP00000347889:R246I;ENSP00000381974:R246I;ENSP00000381981:R246I;ENSP00000346791:R246I	ENSP00000346791:R246I	R	+	2	0	TTC3	37389569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.414000	0.44627	1.407000	0.46875	0.650000	0.86243	AGA	TTC3	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000182670		0.338	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1		0	24	0	G			38467699	1			no_errors	ENST00000354749	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	38467699	G	T	38467699	3	4	123	1	0	0	0	0	1	0	0	0	16746	942	33	3	767	3	TTC3	21	38467699	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	3566474	38467699	9662196	191	32112											
DSCAM	1826	genome.wustl.edu	37	chr21	41496159	41496159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagaatacagtgtactttCggatgatgccgttcagcttg	10	12	11	8	2	1	2	1	1	0	1	2	3	1	3	1	1	5	4	1	1	3	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr21:41496159C>T	ENST00000400454.1	-	20	4136	c.3659G>A	c.(3658-3660)cGa>cAa	p.R1220Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1220	Fibronectin type-III 4. {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)				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)				AGTGTACTTTCGGATGATGCC	0.582																																					Melanoma(134;970 1778 1785 21664 32388)												0													174	181	179					21																	41496159		2029	4180	6209	SO:0001583	missense	0			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.3659G>A	21.37:g.41496159C>T	ENSP00000383303:p.Arg1220Gln		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1220Q	ENST00000400454.1	37	c.3659	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149122	0.78001	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.56611	0.45;0.45	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	L	0.33189	0.99	0.46725	D	0.999176	D	0.76494	0.999	D	0.68192	0.956	T	0.58967	-0.7542	10	0.30854	T	0.27	.	18.7183	0.91684	0.0:1.0:0.0:0.0	.	1220	O60469	DSCAM_HUMAN	Q	1220;972	ENSP00000383303:R1220Q;ENSP00000385342:R972Q	ENSP00000383303:R1220Q	R	-	2	0	DSCAM	40418029	1.000000	0.71417	0.996000	0.52242	0.377000	0.30045	7.631000	0.83237	2.392000	0.81423	0.563000	0.77884	CGA	DSCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000171587		0.582	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1		0	48	0	C	NM_001389		41496159	-1			no_errors	ENST00000400454	ensembl	human	known	74_37	missense	55.56	20	25	SNP	1.000	T	T	41496159	C	T	41496159	3	4	123	1	0	0	0	0	1	0	0	0	4782	884	31	1	2435	1	DSCAM	21	41496159	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	3028460	41496159	6633736	192	32113											
CLTCL1	8218	genome.wustl.edu	37	chr22	19207487	19207487	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataccaggtagcgggcctcGcttttgaacagagaattctc	10	10	10	11	2	1	2	0	1	1	1	3	3	1	2	2	2	3	2	2	2	4	5	rs199728866		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr22:19207487G>A	ENST00000263200.10	-	18	2898	c.2826C>T	c.(2824-2826)agC>agT	p.S942S	CLTCL1_ENST00000353891.5_Silent_p.S942S|CLTCL1_ENST00000427926.1_Silent_p.S942S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	942	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)					AGCGGGCCTCGCTTTTGAACA	0.552			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													140	140	140					22																	19207487		1982	4151	6133	SO:0001819	synonymous_variant	0				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.2826C>T	22.37:g.19207487G>A			B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.S942	ENST00000263200.10	37	c.2826	CCDS46662.1	22																																																																																			CLTCL1	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5		0	58	0	G	NM_007098		19207487	-1			no_errors	ENST00000263200	ensembl	human	known	74_37	silent	59.38	39	57	SNP	0.996	A	A	19207487	G	A	19207487	2	1	123	1	0	0	0	0	0	0	0	1	3574	1078	38	1		1	CLTCL1	22	19207487	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09		19207487	32097079	193	32114											
CLTCL1	8218	genome.wustl.edu	37	chr22	19209533	19209533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaactgtcctctcactgcCatgattaagtgtttaatcac	11	13	7	10	0	2	2	2	1	1	1	4	3	3	2	2	0	2	1	2	0	3	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr22:19209533C>G	ENST00000263200.10	-	16	2574	c.2502G>C	c.(2500-2502)atG>atC	p.M834I	CLTCL1_ENST00000353891.5_Missense_Mutation_p.M834I|CLTCL1_ENST00000427926.1_Missense_Mutation_p.M834I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	834	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)					CTCTCACTGCCATGATTAAGT	0.463			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													122	124	123					22																	19209533		1998	4168	6166	SO:0001583	missense	0				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.2502G>C	22.37:g.19209533C>G	ENSP00000445677:p.Met834Ile		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.M834I	ENST00000263200.10	37	c.2502	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641992	0.29157	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20738	2.05;2.05;2.05	4.17	3.11	0.35812	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.160328	0.53938	D	0.000048	T	0.17619	0.0423	L	0.39467	1.215	0.48696	D	0.999691	B;B	0.02656	0.0;0.0	B;B	0.12837	0.001;0.008	T	0.04467	-1.0949	10	0.27082	T	0.32	-9.4438	13.0296	0.58835	0.1625:0.8374:0.0:0.0	.	834;834	P53675-2;P53675	.;CLH2_HUMAN	I	834	ENSP00000439662:M834I;ENSP00000445677:M834I;ENSP00000441158:M834I	ENSP00000445677:M834I	M	-	3	0	CLTCL1	17589533	1.000000	0.71417	0.895000	0.35142	0.981000	0.71138	3.333000	0.52090	0.919000	0.36945	0.563000	0.77884	ATG	CLTCL1	-	superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.463	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5		0	43	0	C	NM_007098		19209533	-1			no_errors	ENST00000263200	ensembl	human	known	74_37	missense	13.70	63	10	SNP	1.000	G	G	19209533	C	G	19209533	3	3	123	1	0	0	0	0	1	0	0	0	3574	594	21	5	2488	5	CLTCL1	22	19209533	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	2046	19209533	32095033	194	32115											
C22orf13	83606	genome.wustl.edu	37	chr22	24944925	24944925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggccacagtcccagtGgtagagctgctggatgacgg	8	6	16	11	1	0	2	0	1	0	1	1	3	1	3	3	5	2	3	3	5	1	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr22:24944925G>A	ENST00000407471.3	-	2	278	c.88C>T	c.(88-90)Cac>Tac	p.H30Y	GUCD1_ENST00000404664.3_Missense_Mutation_p.H86Y|GUCD1_ENST00000447813.2_Missense_Mutation_p.H30Y|GUCD1_ENST00000435822.1_Missense_Mutation_p.H30Y|GUCD1_ENST00000490922.1_5'Flank|GUCD1_ENST00000402766.1_Missense_Mutation_p.H30Y	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	30																	CAGTCCCAGTGGTAGAGCTGC	0.632																																																	0													49	40	43					22																	24944925		2200	4296	6496	SO:0001583	missense	0			AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 13"	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.88C>T	22.37:g.24944925G>A	ENSP00000386076:p.His30Tyr		B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	pfam_Guanylyl_cyclase	p.H30Y	ENST00000407471.3	37	c.88	CCDS33621.1	22	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715049	0.89112	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664;ENST00000447813;ENST00000402766;ENST00000407973	.	.	.	5.07	5.07	0.68467	.	0.098404	0.64402	D	0.000001	T	0.78020	0.4218	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.998;0.997;0.998	D;D;D;D;D	0.87578	0.998;0.98;0.972;0.995;0.98	T	0.79631	-0.1723	9	0.56958	D	0.05	-46.8888	17.4107	0.87485	0.0:0.0:1.0:0.0	.	30;86;94;30;30	E9PGZ7;B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;.;CV013_HUMAN	Y	30;30;86;30;30;30	.	ENSP00000381297:H30Y	H	-	1	0	C22orf13	23274925	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.558000	0.90704	2.350000	0.79820	0.462000	0.41574	CAC	GUCD1	-	pfam_Guanylyl_cyclase	ENSG00000138867		0.632	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GUCD1	HGNC	protein_coding	OTTHUMT00000319819.1		0	26	0	G	NM_031444		24944925	-1			no_errors	ENST00000407471	ensembl	human	known	74_37	missense	30.36	39	17	SNP	1.000	A	A	24944925	G	A	24944925	3	1	123	1	0	0	0	0	1	0	0	0	2142	1348	47	3	654	3	C22orf13	22	24944925	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	5735392	24944925	26359641	195	32116											
EFCAB6	64800	genome.wustl.edu	37	chr22	44107417	44107417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaagtgtcgaggacaatCtttagataattaaaagacac	19	9	7	6	1	1	2	0	0	1	2	2	4	1	3	0	1	0	0	0	1	7	4			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr22:44107417C>A	ENST00000262726.7	-	10	1222	c.969G>T	c.(967-969)aaG>aaT	p.K323N	EFCAB6_ENST00000358439.4_Missense_Mutation_p.K217N|EFCAB6_ENST00000396231.2_Missense_Mutation_p.K171N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	323	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)				CGAGGACAATCTTTAGATAAT	0.373																																																	0													68	71	70					22																	44107417		2203	4300	6503	SO:0001583	missense	0			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.969G>T	22.37:g.44107417C>A	ENSP00000262726:p.Lys323Asn		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.K323N	ENST00000262726.7	37	c.969	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624112	0.66901	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439	T;T;T	0.40756	2.97;2.97;1.02	5.29	5.29	0.74685	.	0.144073	0.45126	D	0.000388	T	0.57140	0.2033	L	0.59436	1.845	0.38843	D	0.956114	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.996;0.978	T	0.53521	-0.8427	10	0.28530	T	0.3	-43.5993	11.6765	0.51432	0.0:0.9192:0.0:0.0808	.	217;323;323	B4DKR4;Q5THR3-6;Q5THR3	.;.;EFCB6_HUMAN	N	171;323;217	ENSP00000379533:K171N;ENSP00000262726:K323N;ENSP00000351219:K217N	ENSP00000262726:K323N	K	-	3	2	EFCAB6	42438750	0.964000	0.33143	0.731000	0.30826	0.911000	0.54048	2.103000	0.41806	2.743000	0.94032	0.563000	0.77884	AAG	EFCAB6	-	smart_EF_hand_dom	ENSG00000186976		0.373	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1		0	41	0	C	NM_022785		44107417	-1			no_errors	ENST00000262726	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.964	A	A	44107417	C	A	44107417	3	1	123	1	0	0	0	0	1	0	0	0	4953	912	32	3	3628	3	EFCAB6	22	44107417	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	19162492	44107417	7197149	196	32117											
ZBED4	9889	genome.wustl.edu	37	chr22	50277614	50277614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacgtggccatggaggccGtgacccagagcctcctttcc	7	7	12	15	3	0	2	0	1	0	1	2	4	2	3	6	3	1	0	6	3	0	1	rs200978668		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr22:50277614G>A	ENST00000216268.5	+	2	781	c.304G>A	c.(304-306)Gtg>Atg	p.V102M		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	102						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CATGGAGGCCGTGACCCAGAG	0.557													G|||	1	0.000199681	0	0	5008	,	,		18306	0.001		0	False		,,,				2504	0																0													58	64	62					22																	50277614		2203	4300	6503	SO:0001583	missense	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.304G>A	22.37:g.50277614G>A	ENSP00000216268:p.Val102Met		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.V102M	ENST00000216268.5	37	c.304	CCDS33677.1	22	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.22	3.575543	0.65878	.	.	ENSG00000100426	ENST00000216268	T	0.55760	0.5	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.65133	0.2662	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67193	-0.5732	10	0.72032	D	0.01	-26.4938	19.1664	0.93559	0.0:0.0:1.0:0.0	.	102	O75132	ZBED4_HUMAN	M	102	ENSP00000216268:V102M	ENSP00000216268:V102M	V	+	1	0	ZBED4	48663618	1.000000	0.71417	0.904000	0.35570	0.134000	0.20937	8.736000	0.91554	2.762000	0.94881	0.650000	0.86243	GTG	ZBED4	-	NULL	ENSG00000100426		0.557	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2		0	9	0	G	NM_014838		50277614	1			no_errors	ENST00000216268	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	A	A	50277614	G	A	50277614	3	1	123	1	0	0	0	0	1	0	0	0	17568	1145	40	1	306	1	ZBED4	22	50277614	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	6170197	50277614	1026952	197	32118											
CSF2RA	1438	genome.wustl.edu	37	chrX	1419478	1419478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcagagctgcagacgtccGcatcttgaattggagctcct	9	10	11	11	2	2	3	1	1	1	2	4	5	4	4	2	1	3	4	2	1	1	2			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chrX:1419478G>A	ENST00000381524.3	+	10	1091	c.905G>A	c.(904-906)cGc>cAc	p.R302H	CSF2RA_ENST00000432318.2_Missense_Mutation_p.R302H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R302H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R302H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000498153.1_3'UTR|RNA5SP498_ENST00000411342.1_RNA|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R302H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R302H|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R169H|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R302H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R302H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	302	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCAGACGTCCGCATCTTGAAT	0.498																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												0													133	123	126					X																	1419478		2203	4296	6499	SO:0001583	missense	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.905G>A	X.37:g.1419478G>A	ENSP00000370935:p.Arg302His		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.R302H	ENST00000381524.3	37	c.905	CCDS35191.1	X	.	.	.	.	.	.	.	.	.	.	.	8.577	0.881492	0.17467	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D	0.96011	-3.88;-3.88;-2.03;-2.03;-3.88;-3.88;-2.03;-3.88;-2.03	0.798	0.798	0.18660	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.753584	0.10833	U	0.629141	D	0.88847	0.6548	.	.	.	0.09310	N	1	D;P;P;P;P	0.54207	0.965;0.812;0.923;0.904;0.812	B;B;B;B;B	0.42798	0.282;0.158;0.263;0.398;0.158	T	0.81616	-0.0852	9	0.15499	T	0.54	.	4.9167	0.13849	0.0:0.0:1.0:0.0	.	302;302;302;302;302	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	H	302;302;302;169;302;302;302;302;302	ENSP00000370940:R302H;ENSP00000416437:R302H;ENSP00000354836:R302H;ENSP00000440491:R169H;ENSP00000370935:R302H;ENSP00000370920:R302H;ENSP00000347606:R302H;ENSP00000394227:R302H;ENSP00000370911:R302H	ENSP00000347606:R302H	R	+	2	0	CSF2RA	1379478	0.001000	0.12720	0.003000	0.11579	0.077000	0.17291	1.222000	0.32515	0.745000	0.32763	0.100000	0.15512	CGC	CSF2RA	-	superfamily_Fibronectin_type3	ENSG00000198223		0.498	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2		0	143	0	G			1419478	1			no_errors	ENST00000417535	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.003	A	A	1419478	G	A	1419478	3	1	123	1	0	0	0	0	1	0	0	0	3943	1087	38	1	935	1	CSF2RA	23	1419478	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09		1419478	153851082	198	32119											
ARSE	415	genome.wustl.edu	37	chrX	2861176	2861176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagggaaccgccgtgatcCgacgtaaaataaatgagggt	13	8	12	8	4	1	2	0	2	1	0	2	4	2	3	3	2	1	1	3	2	6	3	rs187110605		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chrX:2861176C>T	ENST00000381134.3	-	8	1122	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	ARSE_ENST00000540563.1_Silent_p.S307S|ARSE_ENST00000545496.1_Silent_p.S377S	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	352					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)				CGCCGTGATCCGACGTAAAAT	0.473													C|||	2	0.000529801	0	0	3775	,	,		14096	0.002		0	False		,,,				2504	0																0													86	79	82					X																	2861176		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1056G>A	X.37:g.2861176C>T			Q53FT2|Q53FU8	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S377	ENST00000381134.3	37	c.1131	CCDS14122.1	X																																																																																			ARSE	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000157399		0.473	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSE	HGNC	protein_coding	OTTHUMT00000055643.1		0	30	0	C	NM_000047		2861176	-1			no_errors	ENST00000545496	ensembl	human	known	74_37	silent	75.00	6	18	SNP	0.893	T	T	2861176	C	T	2861176	2	4	123	1	0	0	0	0	0	0	0	1	991	639	23	1		1	ARSE	23	2861176	Silent	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	1441698	2861176	152409384	199	32120											
GRIPAP1	56850	genome.wustl.edu	37	chrX	48847121	48847121	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagttcctcctgcagcctGgatgtttcggcctgctttga	5	13	11	12	1	0	1	0	1	0	0	3	2	2	2	4	2	3	5	4	2	1	3			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chrX:48847121G>T	ENST00000376441.1	-	8	700	c.666C>A	c.(664-666)tcC>tcA	p.S222S	GRIPAP1_ENST00000376444.3_Silent_p.S177S|GRIPAP1_ENST00000376423.4_Silent_p.S169S|GRIPAP1_ENST00000376425.3_Silent_p.S222S|GRIPAP1_ENST00000473581.1_5'UTR	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	222						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CCTGCAGCCTGGATGTTTCGG	0.562																																																	0													127	89	102					X																	48847121		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.666C>A	X.37:g.48847121G>T			A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	superfamily_Prefoldin	p.S222	ENST00000376441.1	37	c.666	CCDS35248.1	X																																																																																			GRIPAP1	-	NULL	ENSG00000068400		0.562	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2		0	19	0	G	NM_207672		48847121	-1			no_errors	ENST00000376441	ensembl	human	known	74_37	silent	21.43	11	3	SNP	1.000	T	T	48847121	G	T	48847121	2	4	123	1	0	0	0	0	0	0	0	1	6816	1335	47	3		3	GRIPAP1	23	48847121	Silent	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	45985945	48847121	106423439	200	32121											
PCDH11X	27328	genome.wustl.edu	37	chrX	91642780	91642780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagaaggctctcaggaaaGcagcagtgatggtggactgg	11	6	16	8	0	1	2	1	1	1	1	2	4	1	4	1	5	2	3	1	5	2	0			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chrX:91642780G>A	ENST00000373094.1	+	5	4036	c.3191G>A	c.(3190-3192)aGc>aAc	p.S1064N	PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1027N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1064N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1054N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1054N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1027N|PCDH11X_ENST00000504220.2_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1064					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						TCTCAGGAAAGCAGCAGTGAT	0.502																																					NSCLC(38;925 1092 2571 38200 45895)												0													77	65	69					X																	91642780		2201	4295	6496	SO:0001583	missense	0			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.3191G>A	X.37:g.91642780G>A	ENSP00000362186:p.Ser1064Asn		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1064N	ENST00000373094.1	37	c.3191	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635620	0.67130	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.65732	-0.04;0.0;0.05;0.23;-0.17;0.05	3.56	3.56	0.40772	.	0.179252	0.32273	U	0.006335	T	0.73644	0.3613	M	0.67700	2.07	0.35953	D	0.834052	D;D;D;D;D	0.62365	0.991;0.991;0.991;0.991;0.985	P;P;P;P;P	0.61800	0.894;0.894;0.894;0.894;0.787	T	0.82474	-0.0439	10	0.87932	D	0	.	13.7192	0.62717	0.0:0.0:1.0:0.0	.	1027;1054;1064;1054;1064	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	N	1064;1054;1027;1054;1064;1064;1027	ENSP00000362186:S1064N;ENSP00000362189:S1054N;ENSP00000362180:S1027N;ENSP00000355105:S1054N;ENSP00000384758:S1064N;ENSP00000298274:S1027N	ENSP00000298274:S1027N	S	+	2	0	PCDH11X	91529436	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	5.727000	0.68523	1.376000	0.46267	0.502000	0.49764	AGC	PCDH11X	-	NULL	ENSG00000102290		0.502	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1		0	27	0	G	NM_032969		91642780	1			no_errors	ENST00000373094	ensembl	human	known	74_37	missense	50.00	12	13	SNP	1.000	A	A	91642780	G	A	91642780	3	1	123	1	0	0	0	0	1	0	0	0	11547	971	34	3	3331	3	PCDH11X	23	91642780	Missense_Mutation	SNP	G	TCGA-LN-A5U7-01A-11D-A31U-09	42795659	91642780	63627780	201	32122											
ACTRT1	139741	genome.wustl.edu	37	chrX	127185461	127185461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacatgtccatctggcagtCtgtatgctcccaggacctct	7	12	9	13	0	3	1	0	1	3	0	5	2	5	2	3	2	1	3	3	2	1	1			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chrX:127185461C>G	ENST00000371124.3	-	1	921	c.725G>C	c.(724-726)aGa>aCa	p.R242T		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	242						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATCTGGCAGTCTGTATGCTCC	0.542																																																	0													133	120	124					X																	127185461		2203	4300	6503	SO:0001583	missense	0			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.725G>C	X.37:g.127185461C>G	ENSP00000360165:p.Arg242Thr		Q6X7C1|Q96L10	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R242T	ENST00000371124.3	37	c.725	CCDS14611.1	X	.	.	.	.	.	.	.	.	.	.	C	0.462	-0.888805	0.02511	.	.	ENSG00000123165	ENST00000371124	D	0.94092	-3.35	3.58	-7.15	0.01521	.	1.108940	0.06996	N	0.822476	T	0.78898	0.4356	N	0.02266	-0.62	0.09310	N	0.999998	B	0.16166	0.016	B	0.12156	0.007	T	0.67488	-0.5658	10	0.87932	D	0	.	3.8449	0.08930	0.181:0.448:0.1706:0.2004	.	242	Q8TDG2	ACTT1_HUMAN	T	242	ENSP00000360165:R242T	ENSP00000360165:R242T	R	-	2	0	ACTRT1	127013142	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.842000	0.04354	-4.448000	0.00048	-0.912000	0.02778	AGA	ACTRT1	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000123165		0.542	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT1	HGNC	protein_coding	OTTHUMT00000058192.1		0	20	0	C	NM_138289		127185461	-1			no_errors	ENST00000371124	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.282	G	G	127185461	C	G	127185461	3	3	123	1	0	0	0	0	1	0	0	0	218	913	32	5	409	5	ACTRT1	23	127185461	Missense_Mutation	SNP	C	TCGA-LN-A5U7-01A-11D-A31U-09	35542681	127185461	28085099	202	32123											
ATP11C	286410	genome.wustl.edu	37	chrX	138864830	138864830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgagctgtctgttaattcTttcataatcatctggagcaa	11	16	7	7	0	5	1	2	1	3	0	5	2	5	2	0	1	2	3	0	1	4	5			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chrX:138864830T>C	ENST00000327569.3	-	18	1935	c.1837A>G	c.(1837-1839)Aga>Gga	p.R613G	ATP11C_ENST00000359686.2_Missense_Mutation_p.R613G|ATP11C_ENST00000370543.1_Missense_Mutation_p.R613G|ATP11C_ENST00000361648.2_Missense_Mutation_p.R613G|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Missense_Mutation_p.R610G	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	613					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)					CTGTTAATTCTTTCATAATCA	0.343																																																	0													93	82	86					X																	138864830		2203	4299	6502	SO:0001583	missense	0			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.1837A>G	X.37:g.138864830T>C	ENSP00000332756:p.Arg613Gly		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R613G	ENST00000327569.3	37	c.1837	CCDS14668.1	X	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311488	0.23821	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.68	3.26	0.37387	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.896184	0.09878	N	0.744063	T	0.48822	0.1521	N	0.16166	0.38	0.23991	N	0.996244	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37686	-0.9695	10	0.42905	T	0.14	.	8.7878	0.34832	0.0:0.1586:0.0:0.8414	.	613;613	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	G	610;613;613;613;613	ENSP00000359588:R610G;ENSP00000355165:R613G;ENSP00000332756:R613G;ENSP00000359574:R613G;ENSP00000352715:R613G	ENSP00000332756:R613G	R	-	1	2	ATP11C	138692496	0.079000	0.21365	0.868000	0.34077	0.950000	0.60333	0.866000	0.27954	0.782000	0.33613	0.481000	0.45027	AGA	ATP11C	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000101974		0.343	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1		0	46	0	T	NM_173694		138864830	-1			no_errors	ENST00000327569	ensembl	human	known	74_37	missense	83.05	10	49	SNP	0.416	C	C	138864830	T	C	138864830	3	2	123	1	0	0	0	0	1	0	0	0	1122	1617	56	4	1676	4	ATP11C	23	138864830	Missense_Mutation	SNP	T	TCGA-LN-A5U7-01A-11D-A31U-09	11679369	138864830	16405730	203	32124											
PLEKHM2	23207	genome.wustl.edu	37	chr1	16053914	16053914	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgccccggagaggccGccgctttgcgactttagtga	6	8	16	11	4	0	2	0	1	0	1	0	5	0	3	4	4	2	1	4	4	1	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:16053914G>A	ENST00000375799.3	+	9	1574	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.P429P	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	449					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)		CGGAGAGGCCGCCGCTTTGCG	0.637																																																	0													9	10	10					1																	16053914		1842	4079	5921	SO:0001819	synonymous_variant	0			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.1347G>A	1.37:g.16053914G>A			O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.P449	ENST00000375799.3	37	c.1347	CCDS44063.1	1																																																																																			PLEKHM2	-	NULL	ENSG00000116786		0.637	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	-	0	49	0	G	NM_015164		16053914	1	tier1	-	no_errors	ENST00000375799	ensembl	human	known	74_37	silent	51.61	15	16	SNP	0.001	A	A	16053914	G	A	16053914	2	1	124	1	0	0	0	0	0	0	0	1	12120	1074	38	1		1	PLEKHM2	1	16053914	Silent	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09		16053914	233196707	1	32125											
MACF1	23499	genome.wustl.edu	37	chr1	39797646	39797646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtaagacataatctgattGaccaagatatggcctgtgct	12	12	9	8	0	1	4	0	2	1	2	1	4	1	4	2	1	1	2	2	1	4	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:39797646G>A	ENST00000372915.3	+	36	5488	c.5401G>A	c.(5401-5403)Gac>Aac	p.D1801N	MACF1_ENST00000289893.4_Missense_Mutation_p.D236N|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.D1833N|MACF1_ENST00000564288.1_Missense_Mutation_p.D1796N|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1801					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)			TAATCTGATTGACCAAGATAT	0.478																																																	0													108	102	104					1																	39797646		2203	4300	6503	SO:0001583	missense	0			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.5401G>A	1.37:g.39797646G>A	ENSP00000362006:p.Asp1801Asn		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.D1833N	ENST00000372915.3	37	c.5497		1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712572	0.68730	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.81247	-1.47;-1.47	5.48	5.48	0.80851	.	0.192552	0.35870	N	0.002931	D	0.89494	0.6731	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.88586	0.3140	10	0.42905	T	0.14	.	19.351	0.94387	0.0:0.0:1.0:0.0	.	1801	Q9UPN3	MACF1_HUMAN	N	1801;236	ENSP00000362006:D1801N;ENSP00000289893:D236N	ENSP00000289893:D236N	D	+	1	0	MACF1	39570233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.912000	0.87465	2.579000	0.87056	0.650000	0.86243	GAC	MACF1	-	pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat	ENSG00000127603		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	31	0	G	NM_033044		39797646	1	tier1	-	no_errors	ENST00000567887	ensembl	human	putative	74_37	missense	47.62	11	10	SNP	1.000	A	A	39797646	G	A	39797646	3	1	124	1	0	0	0	0	1	0	0	0	9180	1290	45	3	5477	3	MACF1	1	39797646	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	23743732	39797646	209452975	2	32126											
EBNA1BP2	10969	genome.wustl.edu	37	chr1	43637293	43637293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccattccagatcccgcttGaattctgccaaacattgctt	10	12	5	14	1	1	2	0	1	1	1	3	2	3	2	4	0	3	2	4	0	2	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:43637293G>T	ENST00000236051.2	-	3	321	c.180C>A	c.(178-180)ttC>ttA	p.F60L	WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.F115L|EBNA1BP2_ENST00000472982.1_5'UTR	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	60					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)				GATCCCGCTTGAATTCTGCCA	0.522																																																	0													169	166	167					1																	43637293		2203	4300	6503	SO:0001583	missense	0			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.180C>A	1.37:g.43637293G>T	ENSP00000236051:p.Phe60Leu		Q96A66	Missense_Mutation	SNP	pfam_Ebp2	p.F115L	ENST00000236051.2	37	c.345	CCDS478.1	1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512899	0.44660	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.40476	1.03;1.03	5.92	5.92	0.95590	.	0.087427	0.85682	D	0.000000	T	0.38825	0.1055	L	0.28400	0.85	0.58432	D	0.999992	B;B;B	0.28667	0.219;0.083;0.083	B;B;B	0.36567	0.228;0.096;0.096	T	0.10314	-1.0635	10	0.21540	T	0.41	-11.8162	18.5012	0.90882	0.0:0.0:1.0:0.0	.	60;60;60	B4DHA6;Q6IB29;Q99848	.;.;EBP2_HUMAN	L	115;60	ENSP00000407323:F115L;ENSP00000236051:F60L	ENSP00000236051:F60L	F	-	3	2	EBNA1BP2	43409880	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.045000	0.49838	2.809000	0.96659	0.655000	0.94253	TTC	EBNA1BP2	-	pfam_Ebp2	ENSG00000117395		0.522	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBNA1BP2	HGNC	protein_coding	OTTHUMT00000019015.1		0	34	0	G			43637293	-1			no_errors	ENST00000431635	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	43637293	G	T	43637293	3	4	124	1	0	0	0	0	1	0	0	0	4899	1281	45	3	768	3	EBNA1BP2	1	43637293	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	3839647	43637293	205613328	3	32127											
NASP	4678	genome.wustl.edu	37	chr1	46073188	46073188	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	acaggaaaaagttgacttgaCtctagattggttaactgaaa	16	11	9	5	0	1	4	0	3	1	1	1	5	1	5	0	2	1	2	0	2	5	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:46073188C>G	ENST00000350030.3	+	6	692	c.605C>G	c.(604-606)aCt>aGt	p.T202S	NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.T138S|NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.T204S	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	202	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)					GTTGACTTGACTCTAGATTGG	0.448																																																	0													50	53	52					1																	46073188		2203	4300	6503	SO:0001583	missense	0			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.605C>G	1.37:g.46073188C>G	ENSP00000255120:p.Thr202Ser		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T204S	ENST00000350030.3	37	c.611	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	C	6.007	0.369691	0.11352	.	.	ENSG00000132780	ENST00000527470;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6	5.05	-0.428	0.12306	.	1.127950	0.06324	N	0.704991	D	0.87861	0.6284	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.11235	0.002;0.002;0.001;0.001;0.004	B;B;B;B;B	0.09377	0.003;0.004;0.002;0.001;0.003	T	0.74321	-0.3703	9	.	.	.	3.1866	4.5622	0.12166	0.1472:0.4867:0.0:0.366	.	138;202;102;202;204	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	S	138;138;204;102;202;165	ENSP00000438871:T138S;ENSP00000384529:T204S;ENSP00000255120:T202S;ENSP00000436924:T165S	.	T	+	2	0	NASP	45845775	0.000000	0.05858	0.001000	0.08648	0.747000	0.42532	-0.292000	0.08332	0.025000	0.15241	-0.355000	0.07637	ACT	NASP	-	NULL	ENSG00000132780		0.448	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	-	0	83	0	C	NM_002482		46073188	1	tier1	-	no_errors	ENST00000402363	ensembl	human	known	74_37	missense	50.60	41	42	SNP	0.000	G	G	46073188	C	G	46073188	3	3	124	1	0	0	0	0	1	0	0	0	10210	565	20	5	704	5	NASP	1	46073188	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	2435895	46073188	203177433	4	32128											
CDKN2C	1031	genome.wustl.edu	37	chr1	51439776	51439776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacttggctgccaaagaagGccacctccgggtggtggagt	8	7	15	11	1	0	1	0	0	0	1	1	2	1	2	4	5	1	2	4	5	2	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:51439776G>A	ENST00000262662.1	+	4	2375	c.341G>A	c.(340-342)gGc>gAc	p.G114D	CDKN2C_ENST00000371761.3_Missense_Mutation_p.G114D|CDKN2C_ENST00000396148.1_Missense_Mutation_p.G114D			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	114					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GCCAAAGAAGGCCACCTCCGG	0.542			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)			Rec	yes		1	1p32	1031	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"		"O, L"	12	Whole gene deletion(11)|Unknown(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)											68	66	67					1																	51439776		2203	4300	6503	SO:0001583	missense	0			BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.341G>A	1.37:g.51439776G>A	ENSP00000262662:p.Gly114Asp		Q8TB83	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G114D	ENST00000262662.1	37	c.341	CCDS555.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.062408	0.93898	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.70986	-0.53;-0.53;-0.53	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.85261	0.5656	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84375	0.0546	10	0.48119	T	0.1	-7.3114	20.1338	0.98010	0.0:0.0:1.0:0.0	.	114	P42773	CDN2C_HUMAN	D	114	ENSP00000262662:G114D;ENSP00000379452:G114D;ENSP00000360826:G114D	ENSP00000262662:G114D	G	+	2	0	CDKN2C	51212364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.507000	0.90522	2.770000	0.95276	0.655000	0.94253	GGC	CDKN2C	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000123080		0.542	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2C	HGNC	protein_coding	OTTHUMT00000022058.1		0	83	0	G	NM_001262		51439776	1			no_errors	ENST00000262662	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A	A	51439776	G	A	51439776	3	1	124	1	0	0	0	0	1	0	0	0	3172	1203	42	3	347	3	CDKN2C	1	51439776	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	5366588	51439776	197810845	5	32129											
HS2ST1	9653	genome.wustl.edu	37	chr1	87538711	87538711	+	Silent	SNP	C	C	T	0	0	0	1	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	actttagatgaggaagaggaCatggtgatcatttataacag	15	11	11	4	0	1	4	1	2	0	2	1	6	1	6	0	3	1	0	0	3	4	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:87538711C>T	ENST00000370550.5	+	2	582	c.219C>T	c.(217-219)gaC>gaT	p.D73D	HS2ST1_ENST00000356813.4_Silent_p.D47D|RP5-1052I5.2_ENST00000370548.2_Silent_p.D47D|HS2ST1_ENST00000370551.4_Silent_p.D73D	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	73					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AGGAAGAGGACATGGTGATCA	0.438																																																	0													124	110	115					1																	87538711		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"Sulfotransferases, membrane-bound"	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.219C>T	1.37:g.87538711C>T			D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Silent	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.D73	ENST00000370550.5	37	c.219	CCDS711.1	1																																																																																			HS2ST1	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000153936		0.438	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS2ST1	HGNC	protein_coding	OTTHUMT00000028279.2	-	0	95	0	C	NM_012262		87538711	1	tier1	-	no_errors	ENST00000370550	ensembl	human	known	74_37	silent	11.43	62	8	SNP	0.995	T	T	87538711	C	T	87538711	2	4	124	1	0	0	0	0	0	0	0	1	7389	477	17	3		3	HS2ST1	1	87538711	Silent	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	36098935	87538711	161711910	6	32130											
FRRS1	391059	genome.wustl.edu	37	chr1	100174461	100174461	+	3'UTR	SNP	C	C	A	0	0	0	1	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	cttcagaattcctctacagaCatgaccccagtcttccaagt	11	11	5	14	0	3	3	1	1	2	2	5	3	5	3	4	0	1	0	4	0	3	4	rs146752240		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:100174461C>A	ENST00000414213.1	-	0	2503				FRRS1_ENST00000492943.1_5'Flank|FRRS1_ENST00000287474.5_Missense_Mutation_p.C625F			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1							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)		CCTCTACAGACATGACCCCAG	0.408																																																	0													49	50	50					1																	100174461		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			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.*123G>T	1.37:g.100174461C>A			A6NLN7	Missense_Mutation	SNP	pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM	p.C625F	ENST00000414213.1	37	c.1874		1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568192	0.28003	.	.	ENSG00000156869	ENST00000287474	.	.	.	5.91	-3.12	0.05282	.	3.277210	0.02429	U	0.083339	T	0.13841	0.0335	.	.	.	0.09310	N	1	B	0.25667	0.131	B	0.24006	0.05	T	0.37361	-0.9709	8	0.87932	D	0	24.5427	7.2397	0.26090	0.0:0.3803:0.1202:0.4995	.	625	Q6ZNA5-2	.	F	625	.	ENSP00000287474:C625F	C	-	2	0	FRRS1	99947049	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.553000	0.06012	-0.643000	0.05473	-0.142000	0.14014	TGT	FRRS1	-	NULL	ENSG00000156869		0.408	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	FRRS1	HGNC	protein_coding			0	24	0	C	NM_001013660		100174461	-1			no_errors	ENST00000287474	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.000	A	A	100174461	C	A	100174461	1	1	124	0	1	0	0	0	0	0	0	0	6084	478	17	3		3	FRRS1	1	100174461	3'UTR	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	12635750	100174461	149076160	7	32131											
DENND2C	163259	genome.wustl.edu	37	chr1	115168298	115168298	+	Missense_Mutation	SNP	T	T	G	0	1	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	ttttaaagaagtgtgtatcgTcatattcatgtttcttattt	10	21	6	4	1	3	1	2	0	1	1	4	1	3	1	0	0	0	2	0	0	6	8			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:115168298T>G	ENST00000393274.1	-	4	933	c.308A>C	c.(307-309)gAc>gCc	p.D103A	DENND2C_ENST00000393277.1_Missense_Mutation_p.D103A|DENND2C_ENST00000393276.3_Missense_Mutation_p.D103A|DENND2C_ENST00000481894.1_5'Flank	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	103					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)		GTGTGTATCGTCATATTCATG	0.348																																																	0													126	125	125					1																	115168298		2203	4300	6503	SO:0001583	missense	0				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.308A>C	1.37:g.115168298T>G	ENSP00000376955:p.Asp103Ala		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D103A	ENST00000393274.1	37	c.308	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	T	0.123	-1.122576	0.01785	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.08634	3.66;3.69;3.07	5.89	-1.99	0.07457	.	2.079160	0.01800	N	0.032855	T	0.01353	0.0044	L	0.29908	0.895	0.09310	N	1	B;B	0.20261	0.001;0.043	B;B	0.21360	0.001;0.034	T	0.38436	-0.9661	10	0.10111	T	0.7	.	2.86	0.05584	0.1125:0.3348:0.1158:0.437	.	103;103	Q68D51;Q68D51-3	DEN2C_HUMAN;.	A	103	ENSP00000376957:D103A;ENSP00000376955:D103A;ENSP00000376958:D103A	ENSP00000358553:D103A	D	-	2	0	DENND2C	114969821	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.405000	0.07196	-0.359000	0.08150	0.455000	0.32223	GAC	DENND2C	-	NULL	ENSG00000175984		0.348	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	-	0	58	0	T	NM_198459		115168298	-1	tier1	-	no_errors	ENST00000393274	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.000	G	G	115168298	T	G	115168298	3	3	124	1	0	0	0	0	1	0	0	0	4444	1667	58	4	2375	4	DENND2C	1	115168298	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	14993837	115168298	134082323	8	32132											
INSRR	3645	genome.wustl.edu	37	chr1	156821495	156821495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcgtgcagcccacaagatCctgtgccgcctggatggagt	8	8	13	12	2	0	1	0	0	0	1	1	3	1	3	4	2	4	1	4	2	1	0			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:156821495C>A	ENST00000368195.3	-	4	1423	c.1027G>T	c.(1027-1029)Gat>Tat	p.D343Y	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	343					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)					CCCACAAGATCCTGTGCCGCC	0.587																																																	0													116	90	99					1																	156821495		2203	4300	6503	SO:0001583	missense	0			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.1027G>T	1.37:g.156821495C>A	ENSP00000357178:p.Asp343Tyr		O60724|Q5VZS3	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.D343Y	ENST00000368195.3	37	c.1027	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233446	0.39498	.	.	ENSG00000027644	ENST00000368195	D	0.81908	-1.55	4.72	4.72	0.59763	.	0.403035	0.20925	N	0.083208	T	0.75004	0.3791	.	.	.	0.39208	D	0.96327	P	0.44195	0.828	B	0.40101	0.319	T	0.80910	-0.1171	9	0.66056	D	0.02	.	16.386	0.83504	0.0:1.0:0.0:0.0	.	343	P14616	INSRR_HUMAN	Y	343	ENSP00000357178:D343Y	ENSP00000357178:D343Y	D	-	1	0	INSRR	155088119	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	3.476000	0.53143	2.435000	0.82474	0.462000	0.41574	GAT	INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt	ENSG00000027644		0.587	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	-	0	46	0	C	NM_014215		156821495	-1	tier1	-	no_errors	ENST00000368195	ensembl	human	known	74_37	missense	10.00	45	5	SNP	1.000	A	A	156821495	C	A	156821495	3	1	124	1	0	0	0	0	1	0	0	0	7801	855	30	3	2941	3	INSRR	1	156821495	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	41653197	156821495	92429126	9	32133											
OR10X1	128367	genome.wustl.edu	37	chr1	158549594	158549594	+	Silent	SNP	G	G	C	0	0	1	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	acatgtgggtacacagaaaaGccaacaagaatgaattcctt	17	8	8	8	0	0	3	0	1	0	2	1	3	1	3	2	1	3	1	2	1	7	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:158549594G>C	ENST00000368150.1	-	1	95	c.96C>G	c.(94-96)ggC>ggG	p.G32G		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACACAGAAAAGCCAACAAGAA	0.368																																																	0													123	121	122					1																	158549594		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.96C>G	1.37:g.158549594G>C			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G32	ENST00000368150.1	37	c.96	CCDS30900.1	1																																																																																			OR10X1	-	NULL	ENSG00000186400		0.368	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	-	0	55	0	G	NM_001004477		158549594	-1	tier1	-	no_errors	ENST00000368150	ensembl	human	known	74_37	silent	22.22	35	10	SNP	0.999	C	C	158549594	G	C	158549594	2	2	124	1	0	0	0	0	0	0	0	1	10961	958	34	5		5	OR10X1	1	158549594	Silent	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	1728099	158549594	90701027	10	32134											
RCSD1	92241	genome.wustl.edu	37	chr1	167666533	167666533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccagtgagggagcagcGggagagggagtgagaaccct	10	6	18	7	1	0	3	0	2	0	2	1	7	1	5	2	3	3	1	2	3	1	1	rs149253367		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:167666533G>A	ENST00000367854.3	+	6	1003	c.672G>A	c.(670-672)gcG>gcA	p.A224A	RCSD1_ENST00000537350.1_Silent_p.A194A	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	224					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AGGGAGCAGCGGGAGAGGGAG	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		17451	0		0	False		,,,				2504	0																0								G		4,4402	6.2+/-15.9	0,4,2199	63	65	64		672	-1.5	0	1	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous	RCSD1	NM_052862.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		224/417	167666533	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.672G>A	1.37:g.167666533G>A			B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Silent	SNP	pfam_RCSD	p.A224	ENST00000367854.3	37	c.672	CCDS1263.1	1																																																																																			RCSD1	-	NULL	ENSG00000198771		0.587	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1	-	0	47	0	G	NM_052862		167666533	1	tier1	rs149253367	no_errors	ENST00000367854	ensembl	human	known	74_37	silent	27.91	31	12	SNP	0.000	A	A	167666533	G	A	167666533	2	1	124	1	0	0	0	0	0	0	0	1	13230	1103	39	1		1	RCSD1	1	167666533	Silent	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	9116939	167666533	81584088	11	32135											
TNN	63923	genome.wustl.edu	37	chr1	175067617	175067617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggaggttccggtggggaagGagcagagcagcacagtcctg	9	5	19	8	1	0	1	0	0	0	1	2	4	2	4	2	6	3	4	2	6	1	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:175067617G>A	ENST00000239462.4	+	9	2118	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	669	Fibronectin type-III 5. {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)		GGTGGGGAAGGAGCAGAGCAG	0.642																																																	0													105	96	99					1																	175067617		2203	4300	6503	SO:0001583	missense	0			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.2005G>A	1.37:g.175067617G>A	ENSP00000239462:p.Glu669Lys		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.E669K	ENST00000239462.4	37	c.2005	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241991	0.58995	.	.	ENSG00000120332	ENST00000239462	T	0.04502	3.61	5.14	4.22	0.49857	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.284538	0.39544	N	0.001323	T	0.10508	0.0257	L	0.56396	1.775	0.33628	D	0.605627	P;P	0.39809	0.661;0.689	B;P	0.48921	0.41;0.595	T	0.06716	-1.0811	10	0.49607	T	0.09	.	9.5804	0.39484	0.1687:0.0:0.8313:0.0	.	669;669	B3KXB6;Q9UQP3	.;TENN_HUMAN	K	669	ENSP00000239462:E669K	ENSP00000239462:E669K	E	+	1	0	TNN	173334240	0.978000	0.34361	0.998000	0.56505	0.158000	0.22134	1.143000	0.31553	1.288000	0.44600	0.460000	0.39030	GAG	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.642	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0	140	0	G	XM_040527		175067617	1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	missense	30.09	78	34	SNP	1.000	A	A	175067617	G	A	175067617	3	1	124	1	0	0	0	0	1	0	0	0	16370	1175	41	3	2035	3	TNN	1	175067617	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	7401084	175067617	74183004	12	32136											
PKP1	5317	genome.wustl.edu	37	chr1	201292259	201292259	+	Missense_Mutation	SNP	A	A	G	1	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	catgggcaagagcaagaaagAtgctaccctggaggcctgtg	12	6	14	9	0	0	3	0	0	0	3	0	4	0	4	2	3	3	3	2	3	4	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:201292259A>G	ENST00000352845.3	+	10	1685	c.1685A>G	c.(1684-1686)gAt>gGt	p.D562G	PKP1_ENST00000367324.3_Missense_Mutation_p.D541G|PKP1_ENST00000263946.3_Missense_Mutation_p.D562G			Q13835	PKP1_HUMAN	plakophilin 1	562					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						AGCAAGAAAGATGCTACCCTG	0.597																																																	0													147	140	142					1																	201292259		2203	4300	6503	SO:0001583	missense	0			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.1685A>G	1.37:g.201292259A>G	ENSP00000295597:p.Asp562Gly		O00645|Q14CA0|Q15152	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D562G	ENST00000352845.3	37	c.1685	CCDS30966.1	1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.099837	0.76983	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.74842	-0.88;-0.88;-0.88	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	L	0.56769	1.78	0.58432	D	0.999998	D;D;D	0.76494	0.984;0.998;0.999	P;D;D	0.68353	0.79;0.957;0.954	T	0.78593	-0.2144	10	0.19590	T	0.45	-6.1737	15.3324	0.74223	1.0:0.0:0.0:0.0	.	149;541;562	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	G	541;562;562	ENSP00000356293:D541G;ENSP00000263946:D562G;ENSP00000295597:D562G	ENSP00000263946:D562G	D	+	2	0	PKP1	199558882	1.000000	0.71417	0.891000	0.34965	0.978000	0.69477	6.958000	0.76025	2.078000	0.62432	0.482000	0.46254	GAT	PKP1	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000081277		0.597	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	-	0	98	0	A	NM_000299		201292259	1	tier1	-	no_errors	ENST00000263946	ensembl	human	known	74_37	missense	38.98	36	23	SNP	0.997	G	G	201292259	A	G	201292259	3	3	124	1	0	0	0	0	1	0	0	0	12023	333	12	4	1723	4	PKP1	1	201292259	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	26224642	201292259	47958362	13	32137											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202407189	202407190	+	Intron	INS	-	-	T																															atgggggaattccaaggcagINSttttttttttccatgaaaat																										TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000356764.2_3'UTR	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)			TTCCAAGGCAGTTTTTTTTTTC	0.391																																																	0																																										SO:0001627	intron_variant	0			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.1458+37->T	1.37:g.202407199_202407199dupT			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F503fs	ENST00000608999.1	37	c.1495_1496	CCDS1426.1	1																																																																																			PPP1R12B	-	NULL	ENSG00000077157		0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3		0	49	0	-	NM_032105		202407190	1	tier1		no_errors	ENST00000480184	ensembl	human	novel	74_37	frame_shift_ins	16.67	30	6	INS	0.085:0.041	T	T	202407190	-	T	202407189	6	5	124	0	1	1	1	0	0	0	0	0	12397	1029	36	0		0	PPP1R12B	1	202407189	Intron	INS	-	TCGA-LN-A7HV-01A-21D-A351-09	1114930	202407189	46843432	14	32138											
TBCE	6905	genome.wustl.edu	37	chr1	235612062	235612062	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggaaaatggagattgtctAttagtgcgatggtgacaacc	12	11	13	5	1	1	2	0	1	1	1	1	5	1	3	1	3	2	0	1	3	5	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:235612062A>G	ENST00000366601.3	+	17	1745	c.1569A>G	c.(1567-1569)ctA>ctG	p.L523L	TBCE_ENST00000406207.1_Silent_p.L523L|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000543662.1_Silent_p.L574L			Q15813	TBCE_HUMAN	tubulin folding cofactor E	523					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GAGATTGTCTATTAGTGCGAT	0.398																																																	0													67	69	68					1																	235612062		2203	4300	6503	SO:0001819	synonymous_variant	0			U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"tubulin-specific chaperone e", "Kenny-Caffey syndrome", "hypoparathyroidism, growth and mental retardation, and dysmorphism"	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.1569A>G	1.37:g.235612062A>G			A8K8C2|B7Z3P1	Silent	SNP	pfam_CAP-Gly_domain,pfam_Ribosomal_S21e,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.L574	ENST00000366601.3	37	c.1722	CCDS1605.1	1																																																																																			TBCE	-	NULL	ENSG00000116957		0.398	TBCE-001	KNOWN	basic|CCDS	protein_coding	TBCE	HGNC	protein_coding	OTTHUMT00000096458.3	-	0	26	0	A	NM_003193		235612062	1	tier1	-	no_errors	ENST00000543662	ensembl	human	known	74_37	silent	29.17	17	7	SNP	0.069	G	G	235612062	A	G	235612062	2	3	124	1	0	0	0	0	0	0	0	1	15681	436	16	4		4	TBCE	1	235612062	Silent	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	33204873	235612062	13638559	15	32139											
OR2W3	343171	genome.wustl.edu	37	chr1	248059198	248059198	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgccatccagctcttcctgTtcctgggtctgggtggtgtg	2	14	14	11	0	2	0	0	0	2	0	5	0	5	0	4	3	2	2	4	3	0	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr1:248059198T>C	ENST00000360358.3	+	1	310	c.310T>C	c.(310-312)Ttc>Ctc	p.F104L	OR2W3_ENST00000537741.1_Missense_Mutation_p.F104L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	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)|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)			GCTCTTCCTGTTCCTGGGTCT	0.552																																																	0													136	109	118					1																	248059198		2203	4300	6503	SO:0001583	missense	0			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.310T>C	1.37:g.248059198T>C	ENSP00000353516:p.Phe104Leu		Q6IF06|Q8NG86	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F104L	ENST00000360358.3	37	c.310	CCDS31099.1	1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.062274	0.36373	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.01388	4.95;4.95	5.28	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.02047	0.0064	L	0.58302	1.8	0.09310	N	1	B	0.32731	0.382	B	0.35607	0.206	T	0.42068	-0.9473	10	0.56958	D	0.05	.	4.2607	0.10739	0.1532:0.1495:0.0:0.6973	.	104	Q7Z3T1	OR2W3_HUMAN	L	104	ENSP00000445853:F104L;ENSP00000353516:F104L	ENSP00000353516:F104L	F	+	1	0	OR2W3	246125821	0.193000	0.23313	0.993000	0.49108	0.915000	0.54546	0.567000	0.23608	1.014000	0.39417	0.491000	0.48974	TTC	OR2W3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000238243		0.552	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W3	HGNC	protein_coding	OTTHUMT00000096861.1	-	0	43	0	T	NM_001001957		248059198	1	tier1	-	no_errors	ENST00000360358	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.007	C	C	248059198	T	C	248059198	3	2	124	1	0	0	0	0	1	0	0	0	11072	1725	60	4	312	4	OR2W3	1	248059198	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	12447136	248059198	1191423	16	32140											
EHD3	30845	genome.wustl.edu	37	chr2	31483423	31483423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgccgagcgggttgacCgcatcattctgctcttcgat	5	13	12	11	4	3	1	1	1	2	0	4	3	3	1	2	2	3	4	2	2	0	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:31483423C>T	ENST00000322054.5	+	4	835	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	184	Dynamin-type G.				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)					GCGGGTTGACCGCATCATTCT	0.552																																																	0													97	88	91					2																	31483423		2203	4300	6503	SO:0001583	missense	0			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.550C>T	2.37:g.31483423C>T	ENSP00000327116:p.Arg184Cys		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.R184C	ENST00000322054.5	37	c.550	CCDS1774.1	2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323377	0.81580	.	.	ENSG00000013016	ENST00000322054	D	0.96830	-4.14	5.15	5.15	0.70609	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98254	0.9422	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98971	1.0801	10	0.72032	D	0.01	-23.4737	18.813	0.92065	0.0:1.0:0.0:0.0	.	184	Q9NZN3	EHD3_HUMAN	C	184	ENSP00000327116:R184C	ENSP00000327116:R184C	R	+	1	0	EHD3	31336927	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.749000	0.62155	2.667000	0.90743	0.561000	0.74099	CGC	EHD3	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000013016		0.552	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	-	0	63	0	C	NM_014600		31483423	1	tier1	-	no_errors	ENST00000322054	ensembl	human	known	74_37	missense	25.37	50	17	SNP	1.000	T	T	31483423	C	T	31483423	3	4	124	1	0	0	0	0	1	0	0	0	4993	652	23	1	564	1	EHD3	2	31483423	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09		31483423	211715950	17	32141											
XDH	7498	genome.wustl.edu	37	chr2	31620585	31620585	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtctgtagcctgtgcagcgGcacagatttcctgtgggcca	6	10	14	11	1	1	1	0	0	1	1	2	1	2	1	3	3	3	3	3	3	1	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:31620585G>A	ENST00000379416.3	-	6	492	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	148					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)	CTGTGCAGCGGCACAGATTTC	0.542																																					Colon(66;682 1445 30109 40147)												0													100	105	103					2																	31620585		2203	4300	6503	SO:0001819	synonymous_variant	0			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.444C>T	2.37:g.31620585G>A			Q16681|Q16712|Q4PJ16	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.C148	ENST00000379416.3	37	c.444	CCDS1775.1	2																																																																																			XDH	-	pfam_2Fe-2S-bd,superfamily_2Fe-2S-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu	ENSG00000158125		0.542	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	-	0	60	0	G	NM_000379		31620585	-1	tier1	-	no_errors	ENST00000379416	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	A	A	31620585	G	A	31620585	2	1	124	1	0	0	0	0	0	0	0	1	17475	1195	42	3		3	XDH	2	31620585	Silent	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	137162	31620585	211578788	18	32142											
EML4	27436	genome.wustl.edu	37	chr2	42557121	42557121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctccttctcagcccttaaAtgagacagctgaagaggaaa	13	8	9	11	0	1	3	1	2	1	2	3	5	2	4	3	1	2	1	3	1	4	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:42557121A>G	ENST00000318522.5	+	23	2982	c.2720A>G	c.(2719-2721)aAt>aGt	p.N907S	EML4_ENST00000401738.3_Missense_Mutation_p.N918S|EML4_ENST00000402711.2_Missense_Mutation_p.N849S|EML4_ENST00000453191.2_Missense_Mutation_p.N171S	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	907					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CAGCCCTTAAATGAGACAGCT	0.498			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													89	84	86					2																	42557121		2203	4300	6503	SO:0001583	missense	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2720A>G	2.37:g.42557121A>G	ENSP00000320663:p.Asn907Ser		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N907S	ENST00000318522.5	37	c.2720	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260966	0.23051	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;D;T	0.97575	1.19;1.25;-4.44;0.95	5.14	-0.208	0.13185	.	1.562160	0.03056	N	0.155223	D	0.92143	0.7509	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	D	0.84686	0.0720	10	0.20046	T	0.44	-0.0436	8.6649	0.34114	0.5308:0.3929:0.0763:0.0	.	849;849;918;907	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	S	907;849;918;171	ENSP00000320663:N907S;ENSP00000385059:N849S;ENSP00000384939:N918S;ENSP00000400590:N171S	ENSP00000320663:N907S	N	+	2	0	EML4	42410625	0.000000	0.05858	0.001000	0.08648	0.958000	0.62258	0.727000	0.25999	0.057000	0.16193	0.533000	0.62120	AAT	EML4	-	NULL	ENSG00000143924		0.498	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0	19	0	A	NM_019063		42557121	1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.006	G	G	42557121	A	G	42557121	3	3	124	1	0	0	0	0	1	0	0	0	5115	101	4	4	2810	4	EML4	2	42557121	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	10936536	42557121	200642252	19	32143											
IL1F7	27178	genome.wustl.edu	37	chr2	113670654	113670654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactgggaaaaagatgaacCccagtgctgcttagaaggta	14	7	13	7	0	0	3	0	1	0	2	0	5	0	5	2	3	3	3	2	3	6	2	rs550494451		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:113670654C>T	ENST00000263326.3	+	1	107	c.65C>T	c.(64-66)cCc>cTc	p.P22L	IL37_ENST00000349806.3_Missense_Mutation_p.P22L|IL37_ENST00000311328.2_5'Flank|IL37_ENST00000353225.3_Missense_Mutation_p.P22L|IL37_ENST00000352179.3_Missense_Mutation_p.P22L	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	22					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						AAAGATGAACCCCAGTGCTGC	0.453													c|||	1	0.000199681	0	0	5008	,	,		21027	0		0	False		,,,				2504	0.001																0													84	84	84					2																	113670654		2203	4300	6503	SO:0001583	missense	0			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.65C>T	2.37:g.113670654C>T	ENSP00000263326:p.Pro22Leu		B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1RA/IL-36	p.P22L	ENST00000263326.3	37	c.65	CCDS2103.1	2	.	.	.	.	.	.	.	.	.	.	c	10.94	1.493336	0.26774	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	2.91	0.0822	0.14428	.	.	.	.	.	T	0.53546	0.1803	L	0.47716	1.5	0.09310	N	1	B;P;P;P	0.51351	0.004;0.728;0.944;0.608	B;B;P;B	0.49853	0.003;0.349;0.624;0.19	T	0.46247	-0.9205	9	0.87932	D	0	-0.0881	5.3776	0.16174	0.0:0.5943:0.0:0.4057	.	22;22;22;22	Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;IL37_HUMAN	L	22	ENSP00000263326:P22L;ENSP00000263327:P22L;ENSP00000263328:P22L;ENSP00000309208:P22L	ENSP00000263326:P22L	P	+	2	0	IL37	113387125	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.456000	0.06754	0.001000	0.14605	-0.258000	0.10820	CCC	IL37	-	NULL	ENSG00000125571		0.453	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL37	HGNC	protein_coding	OTTHUMT00000254126.1	-	0	82	0	C	NM_014439		113670654	1	tier1	-	no_errors	ENST00000263326	ensembl	human	known	74_37	missense	27.38	61	23	SNP	0.000	T	T	113670654	C	T	113670654	3	4	124	1	0	0	0	0	1	0	0	0	7682	623	22	3	67	3	IL1F7	2	113670654	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	71113533	113670654	129528719	20	32144											
MARCO	8685	genome.wustl.edu	37	chr2	119739003	119739003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaagcaaaggggacagggGcatgaaaggagatgcagggg	15	2	20	4	0	0	2	0	1	0	1	0	5	0	4	0	8	2	3	0	8	3	0			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:119739003G>A	ENST00000327097.4	+	9	920	c.785G>A	c.(784-786)gGc>gAc	p.G262D	MARCO_ENST00000541757.1_Missense_Mutation_p.G184D	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	262	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						GGGGACAGGGGCATGAAAGGA	0.567																																					GBM(8;18 374 7467 11269 32796)												0													39	38	39					2																	119739003		2203	4300	6503	SO:0001583	missense	0			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.785G>A	2.37:g.119739003G>A	ENSP00000318916:p.Gly262Asp		B4DW79|Q9Y5S3	Missense_Mutation	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.G262D	ENST00000327097.4	37	c.785	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	G	5.383	0.255936	0.10185	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.99353	-5.77;-5.52	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.98525	4.255	0.42482	D	0.992862	D	0.89917	1.0	D	0.97110	1.0	D	0.97558	1.0096	9	.	.	.	.	14.1644	0.65466	0.0:0.0:1.0:0.0	.	262	Q9UEW3	MARCO_HUMAN	D	262;262;184	ENSP00000318916:G262D;ENSP00000441769:G184D	.	G	+	2	0	MARCO	119455473	0.997000	0.39634	0.235000	0.24058	0.060000	0.15804	4.644000	0.61397	2.723000	0.93209	0.650000	0.86243	GGC	MARCO	-	NULL	ENSG00000019169		0.567	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	-	0	73	0	G	NM_006770		119739003	1	tier1	-	no_errors	ENST00000327097	ensembl	human	known	74_37	missense	40.79	45	31	SNP	0.477	A	A	119739003	G	A	119739003	3	1	124	1	0	0	0	0	1	0	0	0	9349	1203	42	3	819	3	MARCO	2	119739003	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	6068349	119739003	123460370	21	32145											
UBR3	130507	genome.wustl.edu	37	chr2	170770621	170770621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatattgccttgaagctcttCaagactggtttgatgctatt	9	16	9	7	0	2	3	1	2	1	1	2	4	2	3	1	1	3	3	1	1	4	7			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:170770621C>G	ENST00000272793.5	+	11	1881	c.1831C>G	c.(1831-1833)Caa>Gaa	p.Q611E	UBR3_ENST00000418381.1_Missense_Mutation_p.Q611E			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	611					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						TGAAGCTCTTCAAGACTGGTT	0.264																																																	0													151	127	134					2																	170770621		692	1588	2280	SO:0001583	missense	0			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.1831C>G	2.37:g.170770621C>G	ENSP00000272793:p.Gln611Glu		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.Q611E	ENST00000272793.5	37	c.1831		2	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690790	0.68271	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.29655	1.56;1.56	5.37	5.37	0.77165	.	.	.	.	.	T	0.36413	0.0966	N	0.16743	0.435	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	T	0.04216	-1.0968	9	0.09590	T	0.72	.	19.4604	0.94915	0.0:1.0:0.0:0.0	.	611	Q6ZT12	UBR3_HUMAN	E	611	ENSP00000272793:Q611E;ENSP00000396068:Q611E	ENSP00000272793:Q611E	Q	+	1	0	UBR3	170478867	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.385000	0.79763	2.668000	0.90789	0.563000	0.77884	CAA	UBR3	-	NULL	ENSG00000144357		0.264	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2		0	92	0	C	NM_172070		170770621	1			no_errors	ENST00000272793	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	G	G	170770621	C	G	170770621	3	3	124	1	0	0	0	0	1	0	0	0	16952	827	29	5	1873	5	UBR3	2	170770621	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	51031618	170770621	72428752	22	32146											
COL6A3	1293	genome.wustl.edu	37	chr2	238259800	238259800	+	Silent	SNP	T	T	A	0	1	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	cccagtggaccggttctgccTcgttctccaggagcaccagc	6	8	11	16	2	2	0	0	0	2	0	4	2	2	2	5	3	3	3	5	3	0	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr2:238259800T>A	ENST00000295550.4	-	27	7241	c.6789A>T	c.(6787-6789)cgA>cgT	p.R2263R	COL6A3_ENST00000353578.4_Silent_p.R2057R|COL6A3_ENST00000472056.1_Silent_p.R1656R|COL6A3_ENST00000409809.1_Silent_p.R2057R|COL6A3_ENST00000346358.4_Silent_p.R2063R|COL6A3_ENST00000347401.3_Silent_p.R2062R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2263	Collagen-like 4.|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)		CGGTTCTGCCTCGTTCTCCAG	0.572																																																	0													114	91	99					2																	238259800		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6789A>T	2.37:g.238259800T>A			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R2263	ENST00000295550.4	37	c.6789	CCDS33412.1	2																																																																																			COL6A3	-	NULL	ENSG00000163359		0.572	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0	56	0	T	NM_004369		238259800	-1			no_errors	ENST00000295550	ensembl	human	known	74_37	silent	9.68	28	3	SNP	0.352	A	A	238259800	T	A	238259800	2	1	124	1	0	0	0	0	0	0	0	1	3708	1538	54	5		5	COL6A3	2	238259800	Silent	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	67489179	238259800	4939573	23	32147											
TBC1D5	9779	genome.wustl.edu	37	chr3	17416137	17416137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactaggcatcatgttccaGatactcagggttcaagacag	12	11	9	9	0	3	2	3	0	0	2	4	2	4	2	1	2	2	3	1	2	4	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:17416137G>A	ENST00000253692.7	-	11	2400	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	TBC1D5_ENST00000446818.2_Silent_p.L246L|TBC1D5_ENST00000429383.4_Silent_p.L246L|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Silent_p.L198L	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	246	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						TCATGTTCCAGATACTCAGGG	0.279																																																	0													81	83	83					3																	17416137		2203	4297	6500	SO:0001819	synonymous_variant	0			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.736C>T	3.37:g.17416137G>A			A6NP25|C9JP52	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L246	ENST00000253692.7	37	c.736	CCDS33714.1	3																																																																																			TBC1D5	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000131374		0.279	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3		0	87	0	G	NM_014744		17416137	-1			no_errors	ENST00000253692	ensembl	human	known	74_37	silent	5.36	53	3	SNP	1.000	A	A	17416137	G	A	17416137	2	1	124	1	0	0	0	0	0	0	0	1	15670	933	33	3		3	TBC1D5	3	17416137	Silent	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09		17416137	180606293	24	32148											
TRAK1	22906	genome.wustl.edu	37	chr3	42244124	42244124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggctccctcacacccactGagagcatcatgtccctgggc	7	7	10	17	1	2	1	2	1	0	1	4	2	4	1	3	2	1	2	3	2	0	0			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:42244124G>A	ENST00000327628.5	+	13	2024	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	TRAK1_ENST00000341421.3_Missense_Mutation_p.E484K|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Missense_Mutation_p.E468K|TRAK1_ENST00000396175.1_Missense_Mutation_p.E484K	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	542					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CACACCCACTGAGAGCATCAT	0.622																																					GBM(44;195 884 22595 31865 41850)												0													53	59	57					3																	42244124		2203	4300	6503	SO:0001583	missense	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1624G>A	3.37:g.42244124G>A	ENSP00000328998:p.Glu542Lys		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.E484K	ENST00000327628.5	37	c.1450	CCDS43072.1	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586993	0.86851	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.95	5.95	0.96441	Trafficking kinesin-binding protein domain (1);	0.128353	0.53938	D	0.000046	T	0.63165	0.2488	L	0.47190	1.495	0.50813	D	0.999893	P;P;P;P;B;P	0.52170	0.939;0.698;0.951;0.94;0.234;0.739	P;P;P;P;B;B	0.54544	0.67;0.45;0.755;0.62;0.178;0.403	T	0.62959	-0.6743	10	0.66056	D	0.02	.	19.3813	0.94536	0.0:0.0:1.0:0.0	.	468;484;542;484;468;542	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	K	542;542;468;484;484;260	ENSP00000328998:E542K;ENSP00000410717:E468K;ENSP00000379478:E484K;ENSP00000340702:E484K;ENSP00000413729:E260K	ENSP00000328998:E542K	E	+	1	0	TRAK1	42219128	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.669000	0.98622	2.824000	0.97209	0.655000	0.94253	GAG	TRAK1	-	pfam_Traffickng_kinesin-bd_prot_dom	ENSG00000182606		0.622	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	-	0	115	0	G	NM_014965		42244124	1	tier1	-	no_errors	ENST00000396175	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	42244124	G	A	42244124	3	1	124	1	0	0	0	0	1	0	0	0	16497	1291	45	3	1790	3	TRAK1	3	42244124	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	24827987	42244124	155778306	25	32149											
TREX1	11277	genome.wustl.edu	37	chr3	48508870	48508870	+	Silent	SNP	T	T	C	0	1	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	gagagcaggggtaccaaggaTcttcctccagtgaaggaccc	11	6	13	11	0	1	2	0	1	1	1	3	5	3	4	4	4	2	2	4	4	3	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:48508870T>C	ENST00000422277.2	+	1	1642	c.981T>C	c.(979-981)gaT>gaC	p.D327D	TREX1_ENST00000444177.1_Silent_p.D262D|TREX1_ENST00000436480.2_Silent_p.D272D|TREX1_ENST00000433541.1_Silent_p.D133D|TREX1_ENST00000456089.1_Silent_p.D133D|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000296443.9_Silent_p.D272D	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	327	Interaction with UBQLN1.|Necessary for endoplasmic reticulum localization. {ECO:0000250}.				cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTACCAAGGATCTTCCTCCAG	0.597																																																	0													85	85	85					3																	48508870		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"Aicardi-Goutieres syndrome 1"	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.981T>C	3.37:g.48508870T>C			B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Silent	SNP	superfamily_RNaseH-like_dom,smart_Exonuclease	p.D327	ENST00000422277.2	37	c.981	CCDS43086.1	3																																																																																			TREX1	-	NULL	ENSG00000213689		0.597	TREX1-201	KNOWN	basic|CCDS	protein_coding	TREX1	HGNC	protein_coding		-	0	58	0	T	NM_016381		48508870	1	tier1	-	no_errors	ENST00000422277	ensembl	human	known	74_37	silent	35.00	13	7	SNP	0.000	C	C	48508870	T	C	48508870	2	2	124	1	0	0	0	0	0	0	0	1	16524	1432	50	4		4	TREX1	3	48508870	Silent	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	6264746	48508870	149513560	26	32150											
POLQ	10721	genome.wustl.edu	37	chr3	121228891	121228891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagtcacacttaccttctGttccatcactggcttctgta	9	14	6	12	0	4	1	2	0	2	1	5	1	5	1	2	1	1	3	2	1	3	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:121228891G>T	ENST00000264233.5	-	11	1939	c.1811C>A	c.(1810-1812)aCa>aAa	p.T604K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	604					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)		CTTACCTTCTGTTCCATCACT	0.408								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													135	123	127					3																	121228891		2203	4300	6503	SO:0001583	missense	0			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.1811C>A	3.37:g.121228891G>T	ENSP00000264233:p.Thr604Lys		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.T604K	ENST00000264233.5	37	c.1811	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	7.504	0.653234	0.14580	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.47528	0.84	4.67	-0.662	0.11413	.	0.476298	0.19296	N	0.117767	T	0.24699	0.0599	L	0.29908	0.895	0.09310	N	0.999998	B	0.16166	0.016	B	0.20184	0.028	T	0.11372	-1.0590	10	0.13108	T	0.6	.	1.5791	0.02630	0.19:0.3008:0.3051:0.2041	.	604	O75417	DPOLQ_HUMAN	K	227;604;740	ENSP00000264233:T604K	ENSP00000264233:T604K	T	-	2	0	POLQ	122711581	0.032000	0.19561	0.989000	0.46669	0.971000	0.66376	0.310000	0.19356	-0.064000	0.13043	-0.515000	0.04445	ACA	POLQ	-	NULL	ENSG00000051341		0.408	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0	59	0	G	NM_199420		121228891	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.009	T	T	121228891	G	T	121228891	3	4	124	1	0	0	0	0	1	0	0	0	12247	1377	48	3	6041	3	POLQ	3	121228891	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	72720021	121228891	76793539	27	32151											
COL6A6	131873	genome.wustl.edu	37	chr3	130293213	130293213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgagacacagaggtatcGacatctactccgtgggcatt	10	9	10	12	2	1	2	0	1	1	2	3	4	2	2	2	2	1	2	2	2	2	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:130293213G>A	ENST00000358511.6	+	7	3422	c.3391G>A	c.(3391-3393)Gac>Aac	p.D1131N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1131N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1131	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						CAGAGGTATCGACATCTACTC	0.547																																																	0													77	85	82					3																	130293213		2021	4180	6201	SO:0001583	missense	0			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.3391G>A	3.37:g.130293213G>A	ENSP00000351310:p.Asp1131Asn		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D1131N	ENST00000358511.6	37	c.3391	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	1.547	-0.540171	0.04053	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82803	-1.65;-1.65	5.28	0.274	0.15654	von Willebrand factor, type A (3);	0.514908	0.19046	N	0.124169	T	0.59945	0.2231	N	0.04686	-0.185	0.23754	N	0.996932	B	0.14012	0.009	B	0.10450	0.005	T	0.45396	-0.9264	10	0.18710	T	0.47	.	7.1637	0.25679	0.1941:0.2254:0.5804:0.0	.	1131	A6NMZ7	CO6A6_HUMAN	N	1131	ENSP00000351310:D1131N;ENSP00000399236:D1131N	ENSP00000351310:D1131N	D	+	1	0	COL6A6	131775903	0.064000	0.20934	0.015000	0.15790	0.078000	0.17371	0.323000	0.19593	-0.163000	0.10946	0.655000	0.94253	GAC	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.547	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0	44	0	G	NM_001102608		130293213	1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.471	A	A	130293213	G	A	130293213	3	1	124	1	0	0	0	0	1	0	0	0	3710	1058	37	1	3417	1	COL6A6	3	130293213	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	9064322	130293213	67729217	28	32152											
SLC33A1	9197	genome.wustl.edu	37	chr3	155571332	155571332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ataaatagatcatgaagagtCctagtatatactgtgtcggg	14	12	10	5	1	1	3	1	1	0	2	3	3	2	3	1	1	1	1	1	1	8	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:155571332C>G	ENST00000392845.3	-	1	835	c.455G>C	c.(454-456)gGa>gCa	p.G152A	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Missense_Mutation_p.G152A			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	152					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATGAAGAGTCCTAGTATATA	0.478																																																	0													59	62	61					3																	155571332		2203	4300	6503	SO:0001583	missense	0			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.455G>C	3.37:g.155571332C>G	ENSP00000376587:p.Gly152Ala		B2R5Q2|D3DNK4	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	p.G152A	ENST00000392845.3	37	c.455	CCDS3173.1	3	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500365	0.85176	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.79554	-1.28;-1.28	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	L	0.48260	1.515	0.80722	D	1	P	0.40638	0.725	P	0.51777	0.679	T	0.81077	-0.1096	10	0.33141	T	0.24	-11.1843	19.6435	0.95767	0.0:1.0:0.0:0.0	.	152	O00400	ACATN_HUMAN	A	152	ENSP00000376587:G152A;ENSP00000352456:G152A	ENSP00000352456:G152A	G	-	2	0	SLC33A1	157054026	1.000000	0.71417	0.838000	0.33150	0.968000	0.65278	4.639000	0.61361	2.712000	0.92718	0.650000	0.86243	GGA	SLC33A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	ENSG00000169359		0.478	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SLC33A1	HGNC	protein_coding	OTTHUMT00000351130.3	-	0	67	0	C	NM_004733		155571332	-1	tier1	-	no_errors	ENST00000359479	ensembl	human	known	74_37	missense	17.39	57	12	SNP	0.998	G	G	155571332	C	G	155571332	3	3	124	1	0	0	0	0	1	0	0	0	14611	855	30	5	1218	5	SLC33A1	3	155571332	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	25278119	155571332	42451098	29	32153											
MYNN	55892	genome.wustl.edu	37	chr3	169496700	169496700	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtattactggaaacattgaAttgaatcaacagacttgtct	15	13	7	6	0	2	3	1	2	1	1	2	4	2	4	0	1	3	1	0	1	6	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:169496700A>G	ENST00000349841.5	+	3	1074	c.411A>G	c.(409-411)gaA>gaG	p.E137E	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Silent_p.E137E|MYNN_ENST00000392733.1_Silent_p.E137E|MYNN_ENST00000544106.1_Silent_p.E137E	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	137					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)			GAAACATTGAATTGAATCAAC	0.343																																																	0													50	53	52					3																	169496700		2203	4300	6503	SO:0001819	synonymous_variant	0			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.411A>G	3.37:g.169496700A>G			B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E137	ENST00000349841.5	37	c.411	CCDS3207.1	3																																																																																			MYNN	-	NULL	ENSG00000085274		0.343	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	-	0	46	0	A	NM_018657		169496700	1	tier1	-	no_errors	ENST00000349841	ensembl	human	known	74_37	silent	20.51	31	8	SNP	0.963	G	G	169496700	A	G	169496700	2	3	124	1	0	0	0	0	0	0	0	1	10099	98	4	4		4	MYNN	3	169496700	Silent	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	13925368	169496700	28525730	30	32154											
TRA2B	6434	genome.wustl.edu	37	chr3	185639916	185639916	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattggcacgttctttagccTtcaaaaggtaaataaattgt	13	14	7	7	1	2	0	1	0	1	0	2	0	2	0	1	2	1	3	1	2	7	8			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr3:185639916T>C	ENST00000453386.2	-	5	798		c.e5-2		TRA2B_ENST00000382191.4_Splice_Site	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TTCTTTAGCCTTCAAAAGGTA	0.398																																																	0													108	100	103					3																	185639916		2203	4300	6503	SO:0001630	splice_region_variant	0			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.523-2A>G	3.37:g.185639916T>C			B4DVK2|D3DNU3|O15449|Q15815|Q64283	Splice_Site	SNP	-	e5-2	ENST00000453386.2	37	c.523-2	CCDS33905.1	3	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114294	0.56505	.	.	ENSG00000136527	ENST00000453386;ENST00000259043;ENST00000382191	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1964	0.65675	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRA2B	187122610	1.000000	0.71417	0.941000	0.38009	0.782000	0.44232	7.765000	0.85310	2.057000	0.61298	0.460000	0.39030	.	TRA2B	-	-	ENSG00000136527		0.398	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1	-	0	41	0	T	NM_004593	Intron	185639916	-1	tier1	-	no_errors	ENST00000453386	ensembl	human	known	74_37	splice_site	29.73	26	11	SNP	0.998	C	C	185639916	T	C	185639916	5	2	124	1	0	0	0	0	0	0	1	0	16482	1623	56	4	365	4	TRA2B	3	185639916	Splice_Site	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	16143216	185639916	12382514	31	32155											
RFC1	5981	genome.wustl.edu	37	chr4	39306472	39306472	+	Missense_Mutation	SNP	T	T	A	0	1	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	tgctggtattgttcagtgacTcagcaacaatcgccttcaaa	11	12	8	10	1	3	1	3	1	0	0	4	1	3	1	1	1	3	4	1	1	4	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:39306472T>A	ENST00000381897.1	-	15	2208	c.2075A>T	c.(2074-2076)gAg>gTg	p.E692V	RFC1_ENST00000349703.2_Missense_Mutation_p.E691V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	692			E -> D (in dbSNP:rs11932767). {ECO:0000269|Ref.5}.		DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTTCAGTGACTCAGCAACAAT	0.388																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												0													257	266	263					4																	39306472		2203	4300	6503	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2075A>T	4.37:g.39306472T>A	ENSP00000371321:p.Glu692Val		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.E692V	ENST00000381897.1	37	c.2075	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831951	0.71258	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	T;T;T	0.49432	1.96;1.96;0.78	5.41	5.41	0.78517	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	M	0.75085	2.285	0.80722	D	1	P;D	0.89917	0.939;1.0	P;D	0.91635	0.833;0.999	T	0.72197	-0.4363	10	0.59425	D	0.04	-25.0317	15.4296	0.75081	0.0:0.0:0.0:1.0	.	692;691	P35251;P35251-2	RFC1_HUMAN;.	V	692;691;154	ENSP00000371321:E692V;ENSP00000261424:E691V;ENSP00000422129:E154V	ENSP00000261424:E691V	E	-	2	0	RFC1	38982867	1.000000	0.71417	0.957000	0.39632	0.331000	0.28603	6.148000	0.71788	2.051000	0.60960	0.459000	0.35465	GAG	RFC1	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.388	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	-	0	52	0	T	NM_002913		39306472	-1	tier1	-	no_errors	ENST00000381897	ensembl	human	known	74_37	missense	25.76	49	17	SNP	0.998	A	A	39306472	T	A	39306472	3	1	124	1	0	0	0	0	1	0	0	0	13289	1551	54	5	1415	5	RFC1	4	39306472	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09		39306472	151847804	32	32156											
GRXCR1	389207	genome.wustl.edu	37	chr4	42965026	42965026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattttccaaaaccatcgcGtaaaatttgaagagaaaaac	19	9	6	7	2	0	3	0	1	0	2	2	4	1	3	2	0	2	1	2	0	7	4	rs577521620		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:42965026G>T	ENST00000399770.2	+	2	502	c.502G>T	c.(502-504)Gta>Tta	p.V168L		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	168	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.V168I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAACCATCGCGTAAAATTTGA	0.428																																																	1	Substitution - Missense(1)	endometrium(1)											204	204	204					4																	42965026		1862	4096	5958	SO:0001583	missense	0				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.502G>T	4.37:g.42965026G>T	ENSP00000382670:p.Val168Leu			Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.V168L	ENST00000399770.2	37	c.502	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182294	0.78677	.	.	ENSG00000215203	ENST00000399770	T	0.37235	1.21	5.96	5.96	0.96718	Glutaredoxin (2);Thioredoxin-like fold (2);	0.086471	0.46145	U	0.000314	T	0.52773	0.1755	M	0.75150	2.29	0.58432	D	0.999999	D	0.59357	0.985	P	0.50570	0.644	T	0.54761	-0.8245	10	0.59425	D	0.04	-17.2512	19.3889	0.94570	0.0:0.0:1.0:0.0	.	168	A8MXD5	GRCR1_HUMAN	L	168	ENSP00000382670:V168L	ENSP00000382670:V168L	V	+	1	0	GRXCR1	42659783	1.000000	0.71417	0.614000	0.29051	0.729000	0.41735	7.639000	0.83342	2.826000	0.97356	0.655000	0.94253	GTA	GRXCR1	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000215203		0.428	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	-	0	115	0	G	NM_001080476		42965026	1	tier1	-	no_errors	ENST00000399770	ensembl	human	known	74_37	missense	26.83	90	33	SNP	0.996	T	T	42965026	G	T	42965026	3	4	124	1	0	0	0	0	1	0	0	0	6839	1145	40	2	508	2	GRXCR1	4	42965026	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	3658554	42965026	148189250	33	32157											
FRYL	285527	genome.wustl.edu	37	chr4	48597637	48597637	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgaataatcttcacaaaTatattgagaggtgtgtcacg	15	12	8	6	1	3	2	2	2	1	1	3	3	3	2	0	1	1	0	0	1	6	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:48597637T>C	ENST00000503238.1	-	12	1217	c.1218A>G	c.(1216-1218)atA>atG	p.I406M	FRYL_ENST00000358350.4_Missense_Mutation_p.I406M|FRYL_ENST00000506685.1_Missense_Mutation_p.I112M|FRYL_ENST00000264319.7_De_novo_Start_InFrame|FRYL_ENST00000507711.1_Missense_Mutation_p.I406M|FRYL_ENST00000537810.1_Missense_Mutation_p.I406M			O94915	FRYL_HUMAN	FRY-like	406					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						TCTTCACAAATATATTGAGAG	0.378																																																	0													91	80	83					4																	48597637		1850	4085	5935	SO:0001583	missense	0			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.1218A>G	4.37:g.48597637T>C	ENSP00000426064:p.Ile406Met		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I406M	ENST00000503238.1	37	c.1218	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	T	19.04	3.749058	0.69533	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.16	5.97	1.85	0.25348	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.80303	0.4598	M	0.81802	2.56	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.87578	0.98;0.998	T	0.80061	-0.1540	10	0.42905	T	0.14	.	13.4019	0.60887	0.0:0.0:0.3718:0.6282	.	406;406	F2Z2S2;O94915	.;FRYL_HUMAN	M	406;406;406;406;112	ENSP00000426064:I406M;ENSP00000351113:I406M;ENSP00000441114:I406M;ENSP00000421584:I406M	ENSP00000351113:I406M	I	-	3	3	FRYL	48292394	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.549000	0.36212	0.457000	0.26962	0.528000	0.53228	ATA	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.378	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2		0	54	0	T			48597637	-1			no_errors	ENST00000358350	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	C	C	48597637	T	C	48597637	3	2	124	1	0	0	0	0	1	0	0	0	6088	1396	49	4	8023	4	FRYL	4	48597637	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	5632611	48597637	142556639	34	32158											
UBA6	55236	genome.wustl.edu	37	chr4	68544176	68544176	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtttctcttattaacaaCatcatcttcactgagaaaga	13	14	4	10	0	4	2	2	1	2	2	5	3	4	2	1	0	2	1	1	0	4	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:68544176C>A	ENST00000322244.5	-	5	393	c.334G>T	c.(334-336)Gtt>Ttt	p.V112F	UBA6_ENST00000420827.2_Missense_Mutation_p.V112F	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	112					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTATTAACAACATCATCTTCA	0.284																																																	0													72	72	72					4																	68544176		2202	4298	6500	SO:0001583	missense	0			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.334G>T	4.37:g.68544176C>A	ENSP00000313454:p.Val112Phe		A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.V112F	ENST00000322244.5	37	c.334	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196006	0.58126	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.55234	0.53;0.53	5.58	1.55	0.23275	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.131519	0.49916	D	0.000122	T	0.71239	0.3316	M	0.89478	3.035	0.52099	D	0.999948	D;D;D	0.64830	0.991;0.994;0.993	P;P;D	0.65773	0.865;0.885;0.938	T	0.71471	-0.4583	10	0.87932	D	0	-21.9394	9.3706	0.38252	0.0:0.5241:0.0:0.4759	.	112;112;112	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	F	112	ENSP00000313454:V112F;ENSP00000399234:V112F	ENSP00000313454:V112F	V	-	1	0	UBA6	68226771	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	1.549000	0.36212	-0.030000	0.13804	-0.259000	0.10710	GTT	UBA6	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000033178		0.284	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2	-	0	53	0	C	NM_018227		68544176	-1	tier1	-	no_errors	ENST00000322244	ensembl	human	known	74_37	missense	30.77	27	12	SNP	1.000	A	A	68544176	C	A	68544176	3	1	124	1	0	0	0	0	1	0	0	0	16881	478	17	3	2940	3	UBA6	4	68544176	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	19946539	68544176	122610100	35	32159											
LRBA	987	genome.wustl.edu	37	chr4	151604788	151604788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagttgctgtcacgtggtCacgatattttgctgctctta	6	17	10	8	2	3	1	2	1	1	0	3	2	3	1	0	1	3	4	0	1	2	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:151604788C>T	ENST00000357115.3	-	37	6079	c.5836G>A	c.(5836-5838)Gac>Aac	p.D1946N	LRBA_ENST00000510413.1_Missense_Mutation_p.D1946N|LRBA_ENST00000507224.1_Missense_Mutation_p.D1946N|LRBA_ENST00000535741.1_Missense_Mutation_p.D1946N	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1946						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)					GTCACGTGGTCACGATATTTT	0.413																																																	0													236	204	215					4																	151604788		2203	4300	6503	SO:0001583	missense	0			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.5836G>A	4.37:g.151604788C>T	ENSP00000349629:p.Asp1946Asn		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.D1946N	ENST00000357115.3	37	c.5836	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.714353	0.96830	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.24	5.24	0.73138	Domain of unknown function DUF1088 (1);	0.000000	0.85682	D	0.000000	T	0.76335	0.3973	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.962	T	0.77156	-0.2691	10	0.54805	T	0.06	.	19.1737	0.93594	0.0:1.0:0.0:0.0	.	1946;1946	P50851;P50851-2	LRBA_HUMAN;.	N	1946	ENSP00000446299:D1946N;ENSP00000421552:D1946N;ENSP00000349629:D1946N;ENSP00000422180:D1946N	ENSP00000349629:D1946N	D	-	1	0	LRBA	151824238	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.622000	0.88805	0.585000	0.79938	GAC	LRBA	-	pfam_DUF1088	ENSG00000198589		0.413	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0	89	0	C			151604788	-1	tier1	-	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	151604788	C	T	151604788	3	4	124	1	0	0	0	0	1	0	0	0	8966	826	29	3	2843	3	LRBA	4	151604788	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	83060612	151604788	39549488	36	32160											
DDX60L	91351	genome.wustl.edu	37	chr4	169279318	169279318	+	Missense_Mutation	SNP	T	T	A	0	1	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	ttattctaaatgattttgacTcatttgaatttgcatttctt	10	22	4	5	0	3	3	1	3	2	0	3	3	3	3	0	0	1	1	0	0	4	9			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:169279318T>A	ENST00000511577.1	-	38	5348	c.5101A>T	c.(5101-5103)Agt>Tgt	p.S1701C	DDX60L_ENST00000260184.7_Missense_Mutation_p.S1701C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1701							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)		TGATTTTGACTCATTTGAATT	0.318																																																	0													159	150	153					4																	169279318		1815	4078	5893	SO:0001583	missense	0			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.5101A>T	4.37:g.169279318T>A	ENSP00000422423:p.Ser1701Cys		Q96ND6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1701C	ENST00000511577.1	37	c.5101		4	.	.	.	.	.	.	.	.	.	.	T	4.563	0.104580	0.08731	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.19394	2.15;2.15	1.73	-3.01	0.05463	.	.	.	.	.	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	B	0.26120	0.142	B	0.17433	0.018	T	0.23583	-1.0184	9	0.54805	T	0.06	.	2.7968	0.05403	0.4415:0.0:0.348:0.2105	.	1701	Q5H9U9	DDX6L_HUMAN	C	1701	ENSP00000260184:S1701C;ENSP00000422423:S1701C	ENSP00000260184:S1701C	S	-	1	0	DDX60L	169515893	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.752000	0.04797	-1.066000	0.03164	-1.609000	0.00803	AGT	DDX60L	-	NULL	ENSG00000181381		0.318	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	-	0	76	0	T	NM_001012967		169279318	-1	tier1	-	no_errors	ENST00000260184	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	A	A	169279318	T	A	169279318	3	1	124	1	0	0	0	0	1	0	0	0	4388	1551	54	5	23	5	DDX60L	4	169279318	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	17674530	169279318	21874958	37	32161											
SNX25	83891	genome.wustl.edu	37	chr4	186260595	186260595	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacgcacagaccttcagctGcacatggcaagaacggattg	13	6	11	11	2	1	2	1	0	0	2	1	4	1	3	1	2	4	4	1	2	3	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr4:186260595G>T	ENST00000504273.1	+	11	1779	c.1485G>T	c.(1483-1485)ctG>ctT	p.L495L	SNX25_ENST00000264694.8_Silent_p.L495L|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	495					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)		ACCTTCAGCTGCACATGGCAA	0.428																																																	0													93	82	86					4																	186260595		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1485G>T	4.37:g.186260595G>T			Q3ZT30|Q8N6K3	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.L495	ENST00000504273.1	37	c.1485	CCDS34116.1	4																																																																																			SNX25	-	superfamily_Phox	ENSG00000109762		0.428	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	-	0	49	0	G	NM_031953		186260595	1	tier1	-	no_errors	ENST00000264694	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T	T	186260595	G	T	186260595	2	4	124	1	0	0	0	0	0	0	0	1	14941	1306	46	3		3	SNX25	4	186260595	Silent	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	16981277	186260595	4893681	38	32162											
ERBB2IP	55914	genome.wustl.edu	37	chr5	65372163	65372163	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattcgagtgagggttgaaaAggatccagaacttggattta	13	11	13	4	1	0	3	0	2	0	1	2	7	1	5	1	3	1	1	1	3	4	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:65372163A>G	ENST00000284037.5	+	24	4372	c.3983A>G	c.(3982-3984)aAg>aGg	p.K1328R	ERBB2IP_ENST00000380936.1_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.K1335R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.K1218R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.K1218R|ERBB2IP_ENST00000503913.1_3'UTR|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.K1287R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.K1276R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.K1283R|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.K526R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.K1287R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1328	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.			K -> R (in Ref. 7; AAI15013). {ECO:0000305}.	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)		AGGGTTGAAAAGGATCCAGAA	0.338																																																	0													137	136	136					5																	65372163		2203	4300	6503	SO:0001583	missense	0				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.3983A>G	5.37:g.65372163A>G	ENSP00000284037:p.Lys1328Arg		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.K1328R	ENST00000284037.5	37	c.3983	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414501	0.42817	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.49139	1.6;1.6;1.6;1.6;1.6;0.79;1.6;1.6;1.6	5.42	4.24	0.50183	PDZ/DHR/GLGF (3);	0.254116	0.38005	N	0.001848	T	0.54046	0.1834	L	0.35249	1.045	0.22675	N	0.998865	D;P;P;P;B;P;B;B	0.57257	0.979;0.694;0.911;0.852;0.421;0.504;0.449;0.368	D;P;P;P;P;P;B;B	0.74023	0.982;0.621;0.826;0.826;0.489;0.568;0.432;0.336	T	0.45848	-0.9233	10	0.27082	T	0.32	.	12.0273	0.53377	0.8704:0.0:0.0:0.1296	.	526;1287;1335;1335;1283;1328;1218;1287	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	R	1328;1287;526;1276;1218;1287;1283;1335;1218	ENSP00000284037:K1328R;ENSP00000370330:K1287R;ENSP00000397833:K526R;ENSP00000370326:K1276R;ENSP00000370322:K1218R;ENSP00000370325:K1287R;ENSP00000422766:K1283R;ENSP00000426632:K1335R;ENSP00000422015:K1218R	ENSP00000284037:K1328R	K	+	2	0	ERBB2IP	65407919	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.495000	0.73665	0.978000	0.38470	0.455000	0.32223	AAG	ERBB2IP	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ	ENSG00000112851		0.338	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	-	0	96	0	A	NM_018695		65372163	1	tier1	-	no_errors	ENST00000284037	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	G	G	65372163	A	G	65372163	3	3	124	1	0	0	0	0	1	0	0	0	5223	72	3	4	3942	4	ERBB2IP	5	65372163	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09		65372163	115543097	39	32163											
CHD1	1105	genome.wustl.edu	37	chr5	98223851	98223851	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatatctaacatccgcaccaTttgtgaaaaaataagaactc	17	11	4	9	1	1	2	0	1	1	1	3	2	2	2	2	0	2	1	2	0	8	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:98223851T>C	ENST00000284049.3	-	16	2586	c.2437A>G	c.(2437-2439)Atg>Gtg	p.M813V	RNU6-402P_ENST00000410678.1_RNA	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	813	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)	ATCCGCACCATTTGTGAAAAA	0.318																																																	0													80	80	80					5																	98223851		2202	4298	6500	SO:0001583	missense	0			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.2437A>G	5.37:g.98223851T>C	ENSP00000284049:p.Met813Val		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.M813V	ENST00000284049.3	37	c.2437	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038612	0.75617	.	.	ENSG00000153922	ENST00000284049	T	0.75367	-0.93	5.11	5.11	0.69529	Helicase, C-terminal (1);	0.000000	0.40469	U	0.001094	D	0.87892	0.6292	M	0.89030	3	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.90374	0.4383	10	0.87932	D	0	.	14.9145	0.70785	0.0:0.0:0.0:1.0	.	813	O14646	CHD1_HUMAN	V	813	ENSP00000284049:M813V	ENSP00000284049:M813V	M	-	1	0	CHD1	98251751	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.013000	0.88655	1.929000	0.55896	0.383000	0.25322	ATG	CHD1	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000153922		0.318	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0	115	0	T	NM_001270		98223851	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	48.53	35	33	SNP	1.000	C	C	98223851	T	C	98223851	3	2	124	1	0	0	0	0	1	0	0	0	3330	1493	52	4	2775	4	CHD1	5	98223851	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	32851688	98223851	82691409	40	32164											
YTHDC2	64848	genome.wustl.edu	37	chr5	112862420	112862420	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaggaagaaattgttaaaAtaattaaggaaaataaagta	24	9	7	1	0	0	1	0	0	0	1	0	3	0	3	0	2	1	2	0	2	12	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:112862420A>G	ENST00000161863.4	+	4	826	c.613A>G	c.(613-615)Ata>Gta	p.I205V	YTHDC2_ENST00000515883.1_Missense_Mutation_p.I205V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	205	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AATTGTTAAAATAATTAAGGA	0.323																																																	0													52	58	56					5																	112862420		2201	4299	6500	SO:0001583	missense	0			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.613A>G	5.37:g.112862420A>G	ENSP00000161863:p.Ile205Val		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I205V	ENST00000161863.4	37	c.613	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	A	7.942	0.742899	0.15642	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.07567	3.18;3.18	5.52	5.52	0.82312	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.092869	0.64402	D	0.000001	T	0.04543	0.0124	N	0.08118	0	0.35960	D	0.834513	B	0.18968	0.032	B	0.17098	0.017	T	0.14476	-1.0471	10	0.02654	T	1	.	15.9319	0.79668	1.0:0.0:0.0:0.0	.	205	Q9H6S0	YTDC2_HUMAN	V	205;205;115	ENSP00000161863:I205V;ENSP00000423101:I205V	ENSP00000161863:I205V	I	+	1	0	YTHDC2	112890319	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.529000	0.53532	2.222000	0.72286	0.383000	0.25322	ATA	YTHDC2	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000047188		0.323	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	-	0	129	0	A	NM_022828		112862420	1	tier1	-	no_errors	ENST00000161863	ensembl	human	known	74_37	missense	44.07	33	26	SNP	1.000	G	G	112862420	A	G	112862420	3	3	124	1	0	0	0	0	1	0	0	0	17546	101	4	4	627	4	YTHDC2	5	112862420	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	14638569	112862420	68052840	41	32165											
FSTL4	23105	genome.wustl.edu	37	chr5	132585213	132585213	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactgtgctcagccccacGgtcactgtggtcacactgac	8	8	10	15	1	3	1	3	1	0	0	3	1	3	1	2	2	3	2	2	2	0	0	rs375676940		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:132585213G>A	ENST00000265342.7	-	7	1032	c.783C>T	c.(781-783)acC>acT	p.T261T	FSTL4_ENST00000507112.1_5'UTR|CTB-49A3.5_ENST00000515122.1_RNA|CTB-49A3.5_ENST00000504312.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	261	Ig-like 1.					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)			TCAGCCCCACGGTCACTGTGG	0.632											OREG0005128	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	G|||	1	0.000199681	0	0	5008	,	,		19624	0.001		0	False		,,,				2504	0																0								G		0,4406		0,0,2203	82	64	70		783	-4.8	1	5		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FSTL4	NM_015082.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		261/843	132585213	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.783C>T	5.37:g.132585213G>A		1596	Q8TBU0|Q9UPU1	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.T261	ENST00000265342.7	37	c.783	CCDS34238.1	5																																																																																			FSTL4	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000053108		0.632	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL4	HGNC	protein_coding	OTTHUMT00000370212.1	-	0	21	0	G	XM_048786		132585213	-1	tier1	-	no_errors	ENST00000265342	ensembl	human	known	74_37	silent	26.67	11	4	SNP	0.801	A	A	132585213	G	A	132585213	2	1	124	1	0	0	0	0	0	0	0	1	6103	1103	39	1		1	FSTL4	5	132585213	Silent	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	19722793	132585213	48330047	42	32166											
PCDHA4	56144	genome.wustl.edu	37	chr5	140188700	140188700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacgaaacggacgctcCgcgccaccgcctactggtac	8	5	11	17	6	0	0	0	0	0	0	1	3	1	2	5	3	3	2	5	3	3	2	rs17844284		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:140188700C>T	ENST00000530339.1	+	1	1928	c.1928C>T	c.(1927-1929)cCg>cTg	p.P643L	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P643L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P643L|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGACGCTCCGCGCCACCGC	0.687																																																	0													80	82	81					5																	140188700		2203	4300	6503	SO:0001583	missense	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1928C>T	5.37:g.140188700C>T	ENSP00000435300:p.Pro643Leu		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P643L	ENST00000530339.1	37	c.1928	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	c	4.638	0.118527	0.08881	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52057	0.68;0.68;0.68	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	0.386006	0.18675	U	0.134337	T	0.46405	0.1391	M	0.68593	2.085	0.09310	N	1	B;B;B	0.22414	0.059;0.04;0.069	B;B;B	0.33392	0.063;0.024;0.163	T	0.34104	-0.9842	10	0.22706	T	0.39	.	8.771	0.34733	0.1688:0.6676:0.1636:0.0	rs17844284	643;643;643	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	643	ENSP00000423470:P643L;ENSP00000349344:P643L;ENSP00000435300:P643L	ENSP00000349344:P643L	P	+	2	0	PCDHA4	140168884	.	.	0.024000	0.17045	0.020000	0.10135	.	.	2.006000	0.58801	0.484000	0.47621	CCG	PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.687	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2		0	54	0	C	NM_018907		140188700	1			no_errors	ENST00000530339	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.005	T	T	140188700	C	T	140188700	3	4	124	1	0	0	0	0	1	0	0	0	11565	652	23	1	1930	1	PCDHA4	5	140188700	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	7603487	140188700	40726560	43	32167											
PCDHB15	56121	genome.wustl.edu	37	chr5	140627233	140627233	+	Missense_Mutation	SNP	C	C	T																															cctggtggtggcattggcctCggtgtcttcgctcttcctct																										TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:140627233C>T	ENST00000231173.3	+	1	2087	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	696					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)			GCATTGGCCTCGGTGTCTTCG	0.677																																																	0													98	101	100					5																	140627233		2202	4298	6500	SO:0001583	missense	0			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.2087C>T	5.37:g.140627233C>T	ENSP00000231173:p.Ser696Leu		Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S696L	ENST00000231173.3	37	c.2087	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335415	0.41398	.	.	ENSG00000113248	ENST00000231173	T	0.07114	3.22	4.47	0.939	0.19506	.	.	.	.	.	T	0.09512	0.0234	M	0.62723	1.935	0.09310	N	1	D	0.53462	0.96	B	0.43623	0.425	T	0.26883	-1.0090	9	0.87932	D	0	.	2.8481	0.05549	0.0:0.3009:0.2437:0.4554	.	696	Q9Y5E8	PCDBF_HUMAN	L	696	ENSP00000231173:S696L	ENSP00000231173:S696L	S	+	2	0	PCDHB15	140607417	0.000000	0.05858	0.113000	0.21522	0.176000	0.22953	-1.164000	0.03135	0.419000	0.25927	0.549000	0.68633	TCG	PCDHB15	-	NULL	ENSG00000113248		0.677	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2		0	80	0	C	NM_018935		140627233	1			no_errors	ENST00000231173	ensembl	human	known	74_37	missense	13.24	59	9	SNP	0.000	T	T	140627233	C	T	140627233	3	4	124	1	0	0	0	0	1	0	0	0	11579	893	31	1	2089	1	PCDHB15	5	140627233	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	438533	140627233	40288027	44	32168	119	2									
PCDHB15	56121	genome.wustl.edu	37	chr5	140627240	140627240	+	Silent	SNP	T	T	G																															gtggcattggcctcggtgtcTtcgctcttcctcttctcggt																										TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:140627240T>G	ENST00000231173.3	+	1	2094	c.2094T>G	c.(2092-2094)tcT>tcG	p.S698S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	698					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)			CCTCGGTGTCTTCGCTCTTCC	0.682																																																	0													100	104	102					5																	140627240		2201	4298	6499	SO:0001819	synonymous_variant	0			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.2094T>G	5.37:g.140627240T>G			Q8IUX5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S698	ENST00000231173.3	37	c.2094	CCDS4257.1	5																																																																																			PCDHB15	-	NULL	ENSG00000113248		0.682	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2		0	82	0	T	NM_018935		140627240	1			no_errors	ENST00000231173	ensembl	human	known	74_37	silent	12.12	58	8	SNP	0.357	G	G	140627240	T	G	140627240	2	3	124	1	0	0	0	0	0	0	0	1	11579	1596	56	4		4	PCDHB15	5	140627240	Silent	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	7	140627240	40288020	45	32169	119	2									
C5orf54	63920	genome.wustl.edu	37	chr5	159821723	159821723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	atgaggtatctcttttttcaCgtaggcaacaaactcggaat	12	13	8	8	2	2	1	1	1	1	0	4	2	2	2	0	3	2	3	0	3	5	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:159821723C>T	ENST00000408953.3	-	2	1282	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	C5orf54_ENST00000523213.1_Missense_Mutation_p.V259M	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						tcttttttcacgtaggcaaca	0.398																																																	0													135	129	131					5																	159821723		2203	4300	6503	SO:0001583	missense	0																														ENST00000408953.3:c.775G>A	5.37:g.159821723C>T	ENSP00000386184:p.Val259Met			Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.V259M	ENST00000408953.3	37	c.775	CCDS34283.1	5	.	.	.	.	.	.	.	.	.	.	C	9.006	0.981222	0.18812	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.14516	2.5;2.5	2.84	-1.02	0.10135	.	.	.	.	.	T	0.07052	0.0179	N	0.13098	0.295	0.26293	N	0.978092	B	0.19200	0.034	B	0.14578	0.011	T	0.35375	-0.9791	9	0.39692	T	0.17	.	6.1475	0.20293	0.0:0.4657:0.0:0.5343	.	259	Q8IZ13	CE054_HUMAN	M	259	ENSP00000386184:V259M;ENSP00000428831:V259M	ENSP00000386184:V259M	V	-	1	0	C5orf54	159754301	0.144000	0.22641	0.938000	0.37757	0.958000	0.62258	0.012000	0.13287	-0.276000	0.09206	0.655000	0.94253	GTG	C5orf54	-	superfamily_RNaseH-like_dom	ENSG00000221886		0.398	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1	-	0	54	0	C			159821723	-1	tier1	-	no_errors	ENST00000408953	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.947	T	T	159821723	C	T	159821723	3	4	124	1	0	0	0	0	1	0	0	0	2317	536	19	1	1013	1	C5orf54	5	159821723	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	19194483	159821723	21093537	46	32170											
DOCK2	1794	genome.wustl.edu	37	chr5	169126460	169126460	+	Frame_Shift_Del	DEL	A	A	-																															caagggggacagtggagggcAaggtaaagtgccaatatgcc																										TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:169126460delA	ENST00000256935.8	+	12	1210	c.1130delA	c.(1129-1131)caafs	p.Q377fs		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	377					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)			AGTGGAGGGCAAGGTAAAGTG	0.507																																																	0													86	76	79					5																	169126460		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1130delA	5.37:g.169126460delA	ENSP00000256935:p.Gln377fs		Q2M3I0|Q96AK7	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.G378fs	ENST00000256935.8	37	c.1130	CCDS4371.1	5																																																																																			DOCK2	-	NULL	ENSG00000134516		0.507	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2		0	60	0	A	NM_004946		169126460	1	tier1		no_errors	ENST00000256935	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	1.000	-	-	169126460	A	-	169126460	7	5	124	1	0	1	0	1	0	0	0	0	4701	130	5	0	1176	0	DOCK2	5	169126460	Frame_Shift_Del	DEL	A	TCGA-LN-A7HV-01A-21D-A351-09	9304737	169126460	11788800	47	32171											
DRD1	1812	genome.wustl.edu	37	chr5	174869217	174869217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccccagacccacagaaggGcaaaatgcagttcaagatga	15	5	9	12	0	1	4	1	1	0	3	2	4	2	4	3	1	1	3	3	1	4	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr5:174869217G>A	ENST00000393752.2	-	2	1878	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	296					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CCACAGAAGGGCAAAATGCAG	0.478																																																	0													64	66	66					5																	174869217		2203	4300	6503	SO:0001583	missense	0			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.886C>T	5.37:g.174869217G>A	ENSP00000377353:p.Pro296Ser		B2RA44|Q4QRJ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam	p.P296S	ENST00000393752.2	37	c.886	CCDS4393.1	5	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048305	0.55110	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.35973	1.28	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.52953	-0.8506	10	0.25751	T	0.34	.	18.3094	0.90194	0.0:0.0:1.0:0.0	.	296	P21728	DRD1_HUMAN	S	296	ENSP00000377353:P296S	ENSP00000327652:P296S	P	-	1	0	DRD1	174801823	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	9.675000	0.98638	2.653000	0.90120	0.650000	0.86243	CCC	DRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184845		0.478	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	HGNC	protein_coding	OTTHUMT00000252982.2		0	52	0	G	NM_000794		174869217	-1			no_errors	ENST00000393752	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	174869217	G	A	174869217	3	1	124	1	0	0	0	0	1	0	0	0	4770	1203	42	3	458	3	DRD1	5	174869217	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	5742757	174869217	6046043	48	32172											
NEDD9	4739	genome.wustl.edu	37	chr6	11185398	11185398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttttttttcttctcaGaacgttgccatctccagcaa	7	17	4	13	1	4	1	1	0	4	1	7	1	5	1	3	0	3	2	3	0	2	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:11185398G>T	ENST00000379446.5	-	7	2668	c.2502C>A	c.(2500-2502)ttC>ttA	p.F834L	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.F834L	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	834					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)			TTTCTTCTCAGAACGTTGCCA	0.443																																																	0													49	51	50					6																	11185398		2203	4300	6503	SO:0001583	missense	0			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.2502C>A	6.37:g.11185398G>T	ENSP00000368759:p.Phe834Leu		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Splice_Site	SNP	-	NULL	ENST00000379446.5	37	c.NULL	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252739	0.39797	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.38560	1.13;1.26	6.17	4.39	0.52855	.	0.303685	0.36815	N	0.002388	T	0.02012	0.0063	N	0.00146	-1.995	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.47849	-0.9085	10	0.02654	T	1	.	3.3825	0.07260	0.1382:0.1075:0.5462:0.2081	.	834;834;834	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	L	834	ENSP00000368759:F834L;ENSP00000422871:F834L	ENSP00000368759:F834L	F	-	3	2	NEDD9	11293384	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	0.957000	0.29215	0.921000	0.36994	-0.140000	0.14226	TTC	RP3-510L9.1	-	-	ENSG00000247925		0.443	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000247925	Clone_based_vega_gene	protein_coding	OTTHUMT00000039853.2	-	0	74	0	G	NM_006403		11185398	1	tier1	-	no_errors	ENST00000500636	ensembl	human	known	74_37	splice_site	5.97	63	4	SNP	1.000	T	T	11185398	G	T	11185398	3	4	124	1	0	0	0	0	1	0	0	0	10352	933	33	3	6	3	NEDD9	6	11185398	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09		11185398	159929669	49	32173											
HIVEP1	3096	genome.wustl.edu	37	chr6	12161991	12161991	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcacagtctgactacaatagGaagacactctctccggggaa	13	7	10	11	1	2	2	0	1	2	1	4	4	3	4	1	3	1	1	1	3	5	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:12161991G>A	ENST00000379388.2	+	8	7139	c.6807G>A	c.(6805-6807)agG>agA	p.R2269R	HIVEP1_ENST00000541134.1_Silent_p.R134R	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2269					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)				ACTACAATAGGAAGACACTCT	0.547																																																	0													84	88	87					6																	12161991		2132	4251	6383	SO:0001819	synonymous_variant	0			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.6807G>A	6.37:g.12161991G>A			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2269	ENST00000379388.2	37	c.6807	CCDS43426.1	6																																																																																			HIVEP1	-	NULL	ENSG00000095951		0.547	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	0	23	0	G	NM_002114		12161991	1	tier1	-	no_errors	ENST00000379388	ensembl	human	known	74_37	silent	37.50	15	9	SNP	0.000	A	A	12161991	G	A	12161991	2	1	124	1	0	0	0	0	0	0	0	1	7213	1165	41	3		3	HIVEP1	6	12161991	Silent	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	976593	12161991	158953076	50	32174											
ZNF391	346157	genome.wustl.edu	37	chr6	27368437	27368437	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaaagataattcagacttAattaaacaccaaagactttt	18	12	3	8	0	1	3	1	0	0	3	2	3	2	3	2	0	1	0	2	0	6	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:27368437A>C	ENST00000244576.4	+	3	833	c.288A>C	c.(286-288)ttA>ttC	p.L96F		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ATTCAGACTTAATTAAACACC	0.358																																																	0													70	67	68					6																	27368437		1830	4097	5927	SO:0001583	missense	0			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.288A>C	6.37:g.27368437A>C	ENSP00000244576:p.Leu96Phe		B4DH77	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L96F	ENST00000244576.4	37	c.288	CCDS43429.1	6	.	.	.	.	.	.	.	.	.	.	A	10.83	1.461425	0.26248	.	.	ENSG00000124613	ENST00000244576;ENST00000461521	T;T	0.25749	1.78;1.78	4.29	-2.39	0.06602	.	.	.	.	.	T	0.08179	0.0204	L	0.56340	1.77	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.41070	-0.9529	9	0.56958	D	0.05	.	5.3452	0.16006	0.2574:0.199:0.0:0.5437	.	96	Q9UJN7	ZN391_HUMAN	F	96	ENSP00000244576:L96F;ENSP00000419498:L96F	ENSP00000244576:L96F	L	+	3	2	ZNF391	27476416	0.000000	0.05858	0.007000	0.13788	0.015000	0.08874	-1.404000	0.02494	-0.337000	0.08426	0.533000	0.62120	TTA	ZNF391	-	NULL	ENSG00000124613		0.358	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF391	HGNC	protein_coding	OTTHUMT00000040145.2	-	0	61	0	A	NM_001076781		27368437	1	tier1	-	no_errors	ENST00000244576	ensembl	human	known	74_37	missense	24.56	43	14	SNP	0.002	C	C	27368437	A	C	27368437	3	2	124	1	0	0	0	0	1	0	0	0	17927	359	13	4	290	4	ZNF391	6	27368437	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	15206446	27368437	143746630	51	32175											
SNRPC	6631	genome.wustl.edu	37	chr6	34730402	34730402	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagacacactgcagtggaAggaaacacaaagagaatgtg	19	4	12	6	0	0	2	0	0	0	2	0	6	0	4	0	2	2	1	0	2	5	0			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:34730402A>T	ENST00000244520.5	+	3	220	c.82A>T	c.(82-84)Agg>Tgg	p.R28W	SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000374017.3_Missense_Mutation_p.R49W|SNRPC_ENST00000374018.1_De_novo_Start_InFrame	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						CTGCAGTGGAAGGAAACACAA	0.348																																					NSCLC(131;576 1831 5287 11175 13324)												0													84	78	80					6																	34730402		2203	4300	6503	SO:0001583	missense	0				CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.82A>T	6.37:g.34730402A>T	ENSP00000244520:p.Arg28Trp			Missense_Mutation	SNP	pfam_Znf_U1-C,smart_Znf_U1,pirsf_U1_snRNP-C,pfscan_Znf_C2H2_matrin	p.R49W	ENST00000244520.5	37	c.145	CCDS34436.1	6	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428170	0.83667	.	.	ENSG00000124562	ENST00000244520;ENST00000374017	T;T	0.28069	1.63;1.63	6.04	3.51	0.40186	Zinc finger, U1-C type (1);Zinc finger, U1-type (1);Zinc finger, C2H2-type matrin (1);	0.048733	0.85682	N	0.000000	T	0.33352	0.0860	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.12016	-1.0564	10	0.51188	T	0.08	.	13.0438	0.58915	0.634:0.366:0.0:0.0	.	28	P09234	RU1C_HUMAN	W	28;49	ENSP00000244520:R28W;ENSP00000363129:R49W	ENSP00000244520:R28W	R	+	1	2	SNRPC	34838380	0.977000	0.34250	1.000000	0.80357	0.986000	0.74619	2.505000	0.45424	1.089000	0.41292	0.460000	0.39030	AGG	SNRPC	-	pfam_Znf_U1-C,smart_Znf_U1,pirsf_U1_snRNP-C,pfscan_Znf_C2H2_matrin	ENSG00000124562		0.348	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPC	HGNC	protein_coding	OTTHUMT00000040255.1	-	0	58	0	A	NM_003093		34730402	1	tier1	-	no_errors	ENST00000374017	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	T	T	34730402	A	T	34730402	3	4	124	1	0	0	0	0	1	0	0	0	14908	63	3	5	92	5	SNRPC	6	34730402	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	7361965	34730402	136384665	52	32176											
DST	667	genome.wustl.edu	37	chr6	56504082	56504082	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttaaccgggctggatgaTtttctagaagtagctgctct	9	14	11	7	1	2	2	0	1	2	1	2	3	2	3	1	2	3	5	1	2	5	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:56504082T>C	ENST00000361203.3	-	18	2313	c.2306A>G	c.(2305-2307)aAt>aGt	p.N769S	DST_ENST00000421834.2_Missense_Mutation_p.N769S|DST_ENST00000370765.6_Missense_Mutation_p.N443S|DST_ENST00000244364.6_Missense_Mutation_p.N443S|DST_ENST00000370788.2_Missense_Mutation_p.N769S|DST_ENST00000518935.1_Missense_Mutation_p.N443S|DST_ENST00000370754.5_Missense_Mutation_p.N947S|DST_ENST00000370769.4_Missense_Mutation_p.N769S|DST_ENST00000446842.2_Missense_Mutation_p.N443S|DST_ENST00000312431.6_Missense_Mutation_p.N769S			Q03001	DYST_HUMAN	dystonin	769					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)			GGCTGGATGATTTTCTAGAAG	0.338																																																	0													117	110	113					6																	56504082		2203	4300	6503	SO:0001583	missense	0			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.2306A>G	6.37:g.56504082T>C	ENSP00000354508:p.Asn769Ser		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.N947S	ENST00000361203.3	37	c.2840		6	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384772	0.42308	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;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;-3.72;-3.72;-3.72;-3.72	5.51	4.31	0.51392	.	0.118738	0.36778	N	0.002411	D	0.91081	0.7193	M	0.75777	2.31	0.30723	N	0.748055	B;B;B;B;B;B;B;B;B;B	0.28760	0.141;0.001;0.01;0.002;0.221;0.006;0.005;0.046;0.001;0.008	B;B;B;B;B;B;B;B;B;B	0.28553	0.021;0.007;0.004;0.01;0.076;0.035;0.017;0.091;0.003;0.022	D	0.87951	0.2723	9	0.37606	T	0.19	.	11.8646	0.52486	0.0:0.0697:0.0:0.9303	.	798;769;769;947;885;443;443;443;769;443	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	S	443;947;769;769;443;769;769;769;443;809;443;443	ENSP00000244364:N443S;ENSP00000359790:N947S;ENSP00000359805:N769S;ENSP00000400883:N769S;ENSP00000393645:N443S;ENSP00000307959:N769S;ENSP00000359824:N769S;ENSP00000354508:N769S;ENSP00000404924:N443S;ENSP00000431030:N809S;ENSP00000359801:N443S;ENSP00000431003:N443S	ENSP00000244364:N443S	N	-	2	0	DST	56612041	1.000000	0.71417	0.977000	0.42913	0.691000	0.40173	4.126000	0.57937	0.985000	0.38656	0.477000	0.44152	AAT	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	60	0	T	NM_001723		56504082	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	C	C	56504082	T	C	56504082	3	2	124	1	0	0	0	0	1	0	0	0	4797	1493	52	4	19135	4	DST	6	56504082	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	21773680	56504082	114610985	53	32177											
AIM1	202	genome.wustl.edu	37	chr6	106967345	106967345	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatagaaaccaaagttacCgtctcggaagaagagattct	15	9	9	8	2	2	3	0	0	2	3	3	5	2	4	2	1	2	2	2	1	7	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:106967345C>G	ENST00000369066.3	+	2	1525	c.1038C>G	c.(1036-1038)acC>acG	p.T346T		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)		CCAAAGTTACCGTCTCGGAAG	0.438																																																	0													81	88	86					6																	106967345		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1038C>G	6.37:g.106967345C>G			Q6P2P0|Q9BTM3	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.T346	ENST00000369066.3	37	c.1038	CCDS34506.1	6																																																																																			AIM1	-	NULL	ENSG00000112297		0.438	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	-	0	31	0	C			106967345	1	tier1	-	no_errors	ENST00000369066	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.000	G	G	106967345	C	G	106967345	2	3	124	1	0	0	0	0	0	0	0	1	430	639	23	5		5	AIM1	6	106967345	Silent	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	50463263	106967345	64147722	54	32178											
TRDN	10345	genome.wustl.edu	37	chr6	123892175	123892175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggggagctgaacgtcGtcactatgtcttctgtgact	7	12	12	10	2	3	2	1	2	2	0	4	3	3	3	0	2	3	2	0	2	2	2	rs371627659		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:123892175G>A	ENST00000398178.3	-	2	146	c.125C>T	c.(124-126)aCg>aTg	p.T42M	TRDN_ENST00000546248.1_Missense_Mutation_p.T42M|TRDN_ENST00000334268.4_Missense_Mutation_p.T42M|TRDN_ENST00000542443.1_Missense_Mutation_p.T42M	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	42					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GCTGAACGTCGTCACTATGTC	0.468																																																	0													109	114	112					6																	123892175		2044	4200	6244	SO:0001583	missense	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.125C>T	6.37:g.123892175G>A	ENSP00000381240:p.Thr42Met		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.T42M	ENST00000398178.3	37	c.125	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321873	0.60634	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443	T;T;T;T	0.66460	2.01;2.01;5.33;-0.21	5.82	5.82	0.92795	.	0.177852	0.50627	D	0.000103	T	0.81763	0.4891	M	0.80616	2.505	0.40158	D	0.977031	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;0.998;0.999;0.999;1.0	T	0.83140	-0.0109	10	0.87932	D	0	-16.7003	20.0966	0.97849	0.0:0.0:1.0:0.0	.	42;42;42;42;42	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	M	42	ENSP00000381240:T42M;ENSP00000333984:T42M;ENSP00000439281:T42M;ENSP00000437684:T42M	ENSP00000333984:T42M	T	-	2	0	TRDN	123933874	0.995000	0.38212	0.961000	0.40146	0.822000	0.46500	3.826000	0.55738	2.753000	0.94483	0.557000	0.71058	ACG	TRDN	-	NULL	ENSG00000186439		0.468	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		-	0	70	0	G			123892175	-1	tier1	-	no_errors	ENST00000398178	ensembl	human	known	74_37	missense	48.15	42	39	SNP	0.992	A	A	123892175	G	A	123892175	3	1	124	1	0	0	0	0	1	0	0	0	16516	1145	40	1	2224	1	TRDN	6	123892175	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	16924830	123892175	47222892	55	32179											
GRM1	2911	genome.wustl.edu	37	chr6	146747724	146747724	+	Intron	SNP	G	G	T	0	0	1	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	gccagaattctcgcccaccaGccaatgtccgtcggcacatg	9	7	9	16	3	1	1	0	0	1	1	4	1	2	1	5	1	1	1	5	1	2	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:146747724G>T	ENST00000282753.1	+	8	2895				GRM1_ENST00000507907.1_Missense_Mutation_p.S897I|GRM1_ENST00000392299.2_Missense_Mutation_p.S897I|GRM1_ENST00000361719.2_Intron|GRM1_ENST00000492807.2_Missense_Mutation_p.S897I|GRM1_ENST00000355289.4_Intron			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1						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)		TCGCCCACCAGCCAATGTCCG	0.483																																																	0													43	42	42					6																	146747724		1568	3582	5150	SO:0001627	intron_variant	0			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.2661-7284G>T	6.37:g.146747724G>T			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.S897I	ENST00000282753.1	37	c.2690	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237862	0.39598	.	.	ENSG00000152822	ENST00000392299;ENST00000492807;ENST00000507907	D;D;D	0.87729	-2.29;-2.29;-2.29	5.75	2.0	0.26442	.	.	.	.	.	T	0.58708	0.2141	N	0.08118	0	0.22827	N	0.99869	B	0.25105	0.118	B	0.28232	0.087	T	0.55270	-0.8167	9	0.56958	D	0.05	.	9.1318	0.36850	0.3508:0.0:0.6492:0.0	.	897	Q13255-2	.	I	897	ENSP00000376119:S897I;ENSP00000424095:S897I;ENSP00000425599:S897I	ENSP00000376119:S897I	S	+	2	0	GRM1	146789417	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.045000	0.41250	0.365000	0.24400	0.655000	0.94253	AGC	GRM1	-	NULL	ENSG00000152822		0.483	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0	78	0	G	NM_000838		146747724	1	tier1	-	no_errors	ENST00000392299	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.996	T	T	146747724	G	T	146747724	1	4	124	0	1	0	0	0	0	0	0	0	6823	971	34	3		3	GRM1	6	146747724	Intron	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	22855549	146747724	24367343	56	32180											
FAM120B	84498	genome.wustl.edu	37	chr6	170627759	170627759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaggcaagaagttcccatGtatacagactctgaacccag	13	7	9	12	0	1	3	0	1	1	2	2	3	2	3	3	1	2	3	3	1	5	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr6:170627759G>T	ENST00000476287.1	+	2	1389	c.1281G>T	c.(1279-1281)atG>atT	p.M427I	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.M450I|FAM120B_ENST00000540480.1_Missense_Mutation_p.M439I	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	427					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)		AAGTTCCCATGTATACAGACT	0.517																																																	0													184	200	194					6																	170627759		2203	4300	6503	SO:0001583	missense	0			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.1281G>T	6.37:g.170627759G>T	ENSP00000417970:p.Met427Ile		B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	NULL	p.M450I	ENST00000476287.1	37	c.1350	CCDS5314.1	6	.	.	.	.	.	.	.	.	.	.	G	7.295	0.611853	0.14066	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08720	3.07;3.06;3.06	3.07	-2.32	0.06745	.	0.786778	0.12350	N	0.476688	T	0.02156	0.0067	M	0.61703	1.905	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.43637	-0.9379	10	0.29301	T	0.29	-0.4692	3.0674	0.06219	0.4219:0.0:0.2537:0.3244	.	427;427	Q96EK7;F2Z2E1	F120B_HUMAN;.	I	439;450;427	ENSP00000444125:M439I;ENSP00000440125:M450I;ENSP00000417970:M427I	ENSP00000436640:M427I	M	+	3	0	FAM120B	170469684	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.515000	0.02252	-0.608000	0.05731	-0.187000	0.12897	ATG	FAM120B	-	NULL	ENSG00000112584		0.517	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM120B	HGNC	protein_coding	OTTHUMT00000043259.2	-	0	169	0	G	NM_032448		170627759	1	tier1	-	no_errors	ENST00000537664	ensembl	human	known	74_37	missense	48.56	107	101	SNP	0.000	T	T	170627759	G	T	170627759	3	4	124	1	0	0	0	0	1	0	0	0	5436	1377	48	3	1283	3	FAM120B	6	170627759	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	23880035	170627759	487308	57	32181											
WBSCR17	64409	genome.wustl.edu	37	chr7	70853300	70853300	+	Missense_Mutation	SNP	A	A	T	1	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	tgaacgaggccctgtcggtgAtcctgcggtccgtgcacagt	6	9	14	12	4	0	2	0	2	0	0	3	3	2	2	3	3	3	1	3	3	1	0			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:70853300A>T	ENST00000333538.5	+	3	1136	c.502A>T	c.(502-504)Atc>Ttc	p.I168F	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	168	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)				CCTGTCGGTGATCCTGCGGTC	0.552																																																	0													137	111	120					7																	70853300		2203	4300	6503	SO:0001583	missense	0			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.502A>T	7.37:g.70853300A>T	ENSP00000329654:p.Ile168Phe		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I168F	ENST00000333538.5	37	c.502	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590466	0.86851	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.66995	-0.24;-0.24	5.58	5.58	0.84498	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	M	0.85777	2.775	0.80722	D	1	D	0.61697	0.99	D	0.66979	0.948	D	0.85789	0.1366	10	0.87932	D	0	.	15.2355	0.73427	1.0:0.0:0.0:0.0	.	168	Q6IS24	GLTL3_HUMAN	F	168;146	ENSP00000329654:I168F;ENSP00000392019:I146F	ENSP00000329654:I168F	I	+	1	0	WBSCR17	70491236	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.247000	0.78257	2.246000	0.74042	0.533000	0.62120	ATC	WBSCR17	-	pfam_Glyco_trans_2	ENSG00000185274		0.552	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0	44	0	A	NM_022479		70853300	1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	T	T	70853300	A	T	70853300	3	4	124	1	0	0	0	0	1	0	0	0	17313	333	12	5	512	5	WBSCR17	7	70853300	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09		70853300	88285363	58	32182											
PION	54103	genome.wustl.edu	37	chr7	76950062	76950062	+	Frame_Shift_Del	DEL	A	A	-																															caggaggcagaggtaaaaacAaactgtttgtagcttccaga																										TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:76950062delA	ENST00000257626.7	-	26	2147	c.2069delT	c.(2068-2070)ttgfs	p.L690fs	GSAP_ENST00000441833.2_Frame_Shift_Del_p.L11fs|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	690					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										AGGTAAAAACAAACTGTTTGT	0.393																																																	0													75	72	73					7																	76950062		1866	4109	5975	SO:0001589	frameshift_variant	0				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2069delT	7.37:g.76950062delA	ENSP00000257626:p.Leu690fs		A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Frame_Shift_Del	DEL	NULL	p.L690fs	ENST00000257626.7	37	c.2069	CCDS34672.2	7																																																																																			GSAP	-	NULL	ENSG00000186088		0.393	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	HGNC	protein_coding	OTTHUMT00000318672.2		0	29	0	A	NM_017439		76950062	-1	tier1		no_errors	ENST00000257626	ensembl	human	known	74_37	frame_shift_del	18.18	9	2	DEL	1.000	-	-	76950062	A	-	76950062	7	5	124	1	0	1	0	1	0	0	0	0	11973	131	5	0	519	0	PION	7	76950062	Frame_Shift_Del	DEL	A	TCGA-LN-A7HV-01A-21D-A351-09	6096762	76950062	82188601	59	32183											
SEMA3D	223117	genome.wustl.edu	37	chr7	84694822	84694822	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggatcgagtgaatgcagtAtctttgccaaggaaatcaga	14	9	12	6	1	2	2	1	1	1	1	3	5	2	4	1	2	2	2	1	2	4	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:84694822A>G	ENST00000284136.6	-	6	679	c.636T>C	c.(634-636)gaT>gaC	p.D212D	SEMA3D_ENST00000444867.1_Silent_p.D212D	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	212	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.D212D(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAATGCAGTATCTTTGCCAA	0.423																																					Ovarian(63;442 1191 17318 29975 31528)												1	Substitution - coding silent(1)	prostate(1)											133	117	122					7																	84694822		2203	4300	6503	SO:0001819	synonymous_variant	0			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.636T>C	7.37:g.84694822A>G			A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.D212	ENST00000284136.6	37	c.636	CCDS34676.1	7																																																																																			SEMA3D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000153993		0.423	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	-	0	61	0	A	NM_152754		84694822	-1	tier1	-	no_errors	ENST00000284136	ensembl	human	known	74_37	silent	23.08	30	9	SNP	0.870	G	G	84694822	A	G	84694822	2	3	124	1	0	0	0	0	0	0	0	1	14072	446	16	4		4	SEMA3D	7	84694822	Silent	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	7744760	84694822	74443841	60	32184											
GJC3	349149	genome.wustl.edu	37	chr7	99527065	99527065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcgaagcaggcagccttgCagcccggctgctgggtgtga	7	7	15	12	2	0	1	0	1	0	0	1	2	0	1	2	3	5	5	2	3	1	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:99527065C>T	ENST00000312891.2	-	1	178	c.179G>A	c.(178-180)tGc>tAc	p.C60Y	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	60					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)					GGCAGCCTTGCAGCCCGGCTG	0.612																																																	0													66	66	66					7																	99527065		2202	4300	6502	SO:0001583	missense	0			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.179G>A	7.37:g.99527065C>T	ENSP00000325775:p.Cys60Tyr		A4D296|Q86XI9	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.C60Y	ENST00000312891.2	37	c.179	CCDS34697.1	7	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688329	0.68271	.	.	ENSG00000176402	ENST00000312891	D	0.99745	-6.61	4.63	4.63	0.57726	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.48286	D	0.000187	D	0.99753	0.9901	M	0.92691	3.335	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.97108	0.9802	10	0.87932	D	0	.	15.3872	0.74711	0.0:1.0:0.0:0.0	.	60	Q8NFK1	CXG3_HUMAN	Y	60	ENSP00000325775:C60Y	ENSP00000325775:C60Y	C	-	2	0	GJC3	99365001	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	7.338000	0.79269	2.577000	0.86979	0.655000	0.94253	TGC	GJC3	-	pfam_Connexin_N,smart_Connexin_N,prints_Connexin	ENSG00000176402		0.612	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC3	HGNC	protein_coding	OTTHUMT00000345052.1	-	0	60	0	C	NM_181538		99527065	-1	tier1	-	no_errors	ENST00000312891	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	99527065	C	T	99527065	3	4	124	1	0	0	0	0	1	0	0	0	6442	710	25	3	668	3	GJC3	7	99527065	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	14832243	99527065	59611598	61	32185											
MUC17	140453	genome.wustl.edu	37	chr7	100684551	100684551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcactccattaacaaGtatgcctgtcagcaccacaa	15	7	7	12	0	1	0	1	0	0	0	2	1	2	1	3	1	4	3	3	1	5	2	rs149757750	byFrequency	TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:100684551G>C	ENST00000306151.4	+	3	9918	c.9854G>C	c.(9853-9855)aGt>aCt	p.S3285T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3285	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)					CCATTAACAAGTATGCCTGTC	0.512																																																	0													342	338	339					7																	100684551		2203	4300	6503	SO:0001583	missense	0			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.9854G>C	7.37:g.100684551G>C	ENSP00000302716:p.Ser3285Thr		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S3285T	ENST00000306151.4	37	c.9854	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	1.927	-0.446873	0.04572	.	.	ENSG00000169876	ENST00000306151	T	0.02280	4.36	1.46	-1.4	0.08968	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	P	0.42584	0.784	B	0.40825	0.341	T	0.35822	-0.9773	9	0.06757	T	0.87	.	4.8746	0.13650	0.0:0.5513:0.2664:0.1823	.	3285	Q685J3	MUC17_HUMAN	T	3285	ENSP00000302716:S3285T	ENSP00000302716:S3285T	S	+	2	0	MUC17	100471271	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.420000	0.01032	-0.363000	0.08101	0.196000	0.17591	AGT	MUC17	-	NULL	ENSG00000169876		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	117	0	G	NM_001040105		100684551	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	11.94	117	16	SNP	0.000	C	C	100684551	G	C	100684551	3	2	124	1	0	0	0	0	1	0	0	0	10012	1029	36	5	9864	5	MUC17	7	100684551	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	1157486	100684551	58454112	62	32186											
CFTR	1080	genome.wustl.edu	37	chr7	117267663	117267664	+	Frame_Shift_Ins	INS	-	-	AA																															caaaccatacaagaatggccINSaactctcgaaagttatgatt																								rs397508582		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:117267663_117267664insAA	ENST00000003084.6	+	22	3688_3689	c.3556_3557insAA	c.(3556-3558)caafs	p.Q1186fs	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Frame_Shift_Ins_p.Q1125fs	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1186					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)	CAAGAATGGCCAACTCTCGAAA	0.411									Cystic Fibrosis																																								0			GRCh37	CM962480	CFTR	M																																				SO:0001589	frameshift_variant	0	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.3557_3558dupAA	7.37:g.117267664_117267665dupAA	ENSP00000003084:p.Gln1186fs		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Frame_Shift_Ins	INS	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.L1187fs	ENST00000003084.6	37	c.3556_3557	CCDS5773.1	7																																																																																			CFTR	-	tigrfam_cAMP_cl_channel	ENSG00000001626		0.411	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3		0	74	0	-	NM_000492		117267664	1	tier1		no_errors	ENST00000003084	ensembl	human	known	74_37	frame_shift_ins	14.29	48	8	INS	0.187:0.173	AA	AA	117267664	-	AA	117267663	7	5	124	1	0	1	1	0	0	0	0	0	3301	595	21	0	3642	0	CFTR	7	117267663	Frame_Shift_Ins	INS	-	TCGA-LN-A7HV-01A-21D-A351-09	16583112	117267663	41871000	63	32187											
OR2A5	393046	genome.wustl.edu	37	chr7	143747992	143747992	+	Silent	SNP	G	G	T	0	0	1	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	gtggttctcatcctgaggctGcccttctgtgggccccatga	4	12	12	13	0	2	2	1	2	2	0	4	2	3	2	4	3	1	2	4	3	0	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:143747992G>T	ENST00000408906.2	+	1	532	c.498G>T	c.(496-498)ctG>ctT	p.L166L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	166						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)					TCCTGAGGCTGCCCTTCTGTG	0.547																																																	0													186	191	189					7																	143747992		2077	4236	6313	SO:0001819	synonymous_variant	0			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.498G>T	7.37:g.143747992G>T			B9EGX2|O43885|O43888	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L166	ENST00000408906.2	37	c.498	CCDS43668.1	7																																																																																			OR2A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221836		0.547	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A5	HGNC	protein_coding	OTTHUMT00000349986.1	-	0	99	0	G			143747992	1	tier1	-	no_errors	ENST00000408906	ensembl	human	known	74_37	silent	29.87	54	23	SNP	1.000	T	T	143747992	G	T	143747992	2	4	124	1	0	0	0	0	0	0	0	1	11020	1306	46	3		3	OR2A5	7	143747992	Silent	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	26480329	143747992	15390671	64	32188											
MLL3	58508	genome.wustl.edu	37	chr7	152012301	152012301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgttgtcatcaatgtccTtcttgttagaaggttggttt	6	19	10	6	0	3	1	2	0	1	1	4	1	4	1	1	2	1	5	1	2	3	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr7:152012301T>C	ENST00000262189.6	-	4	730	c.512A>G	c.(511-513)aAg>aGg	p.K171R	KMT2C_ENST00000355193.2_Missense_Mutation_p.K171R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	171					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)										ATCAATGTCCTTCTTGTTAGA	0.388																																																	0													253	224	234					7																	152012301		2202	4300	6502	SO:0001583	missense	0			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.512A>G	7.37:g.152012301T>C	ENSP00000262189:p.Lys171Arg		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K171R	ENST00000262189.6	37	c.512	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186625	0.38609	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83914	-1.78;-1.78	5.78	4.64	0.57946	.	0.348481	0.20134	U	0.098524	T	0.67487	0.2898	L	0.27053	0.805	0.80722	D	1	B	0.15473	0.013	B	0.13407	0.009	T	0.55749	-0.8092	10	0.13108	T	0.6	.	4.2226	0.10565	0.0:0.2039:0.1729:0.6232	.	171	Q8NEZ4	MLL3_HUMAN	R	171	ENSP00000262189:K171R;ENSP00000347325:K171R	ENSP00000262189:K171R	K	-	2	0	MLL3	151643234	0.969000	0.33509	0.991000	0.47740	0.987000	0.75469	0.291000	0.18994	1.030000	0.39839	0.460000	0.39030	AAG	KMT2C	-	NULL	ENSG00000055609		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	87	0	T			152012301	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	32.76	39	19	SNP	1.000	C	C	152012301	T	C	152012301	3	2	124	1	0	0	0	0	1	0	0	0	9660	1609	56	4	14447	4	MLL3	7	152012301	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	8264309	152012301	7126362	65	32189											
MTMR9	66036	genome.wustl.edu	37	chr8	11152762	11152762	+	Missense_Mutation	SNP	T	T	G	0	1	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	agattttcgaattattcagtTggatattcctggaatggagg	11	15	11	4	1	1	1	1	0	0	1	3	5	2	4	1	4	0	1	1	4	4	7			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:11152762T>G	ENST00000221086.3	+	2	715	c.242T>G	c.(241-243)tTg>tGg	p.L81W	MTMR9_ENST00000526292.1_5'UTR	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	81						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)		ATTATTCAGTTGGATATTCCT	0.303																																																	0													149	162	158					8																	11152762		2203	4298	6501	SO:0001583	missense	0			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.242T>G	8.37:g.11152762T>G	ENSP00000221086:p.Leu81Trp		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom	p.L81W	ENST00000221086.3	37	c.242	CCDS5979.1	8	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703343	0.88924	.	.	ENSG00000104643	ENST00000221086	D	0.85013	-1.93	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.92044	0.7479	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.93019	0.6438	10	0.87932	D	0	.	14.6298	0.68647	0.0:0.0:0.0:1.0	.	81	Q96QG7	MTMR9_HUMAN	W	81	ENSP00000221086:L81W	ENSP00000221086:L81W	L	+	2	0	MTMR9	11190172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.324000	0.78689	0.533000	0.62120	TTG	MTMR9	-	NULL	ENSG00000104643		0.303	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2	-	0	83	0	T	NM_015458		11152762	1	tier1	-	no_errors	ENST00000221086	ensembl	human	known	74_37	missense	10.61	59	7	SNP	1.000	G	G	11152762	T	G	11152762	3	3	124	1	0	0	0	0	1	0	0	0	9988	1821	63	4	248	4	MTMR9	8	11152762	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09		11152762	135211260	66	32190											
FGL1	2267	genome.wustl.edu	37	chr8	17731947	17731947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcggacatgtcacaataaaCagaaaattctgctgggctct	14	10	8	9	1	3	1	1	0	2	1	4	2	3	2	0	2	2	2	0	2	5	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:17731947C>A	ENST00000398056.2	-	6	1143	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	FGL1_ENST00000398054.1_Missense_Mutation_p.V110F|FGL1_ENST00000381840.2_Missense_Mutation_p.V110F|FGL1_ENST00000427924.1_Missense_Mutation_p.V110F|FGL1_ENST00000522444.1_Missense_Mutation_p.V110F|FGL1_ENST00000381841.2_Missense_Mutation_p.V110F|FGL1_ENST00000518650.1_Missense_Mutation_p.V110F			Q08830	FGL1_HUMAN	fibrinogen-like 1	110	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TCACAATAAACAGAAAATTCT	0.383																																																	0													128	128	128					8																	17731947		2203	4300	6503	SO:0001583	missense	0			D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"Fibrinogen C domain containing"	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.328G>T	8.37:g.17731947C>A	ENSP00000381133:p.Val110Phe		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.V110F	ENST00000398056.2	37	c.328	CCDS6004.1	8	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762757	0.69763	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.36	4.48	0.54585	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.293460	0.37530	N	0.002060	D	0.94915	0.8356	H	0.97365	3.99	0.40074	D	0.976051	D;D;D	0.76494	0.999;0.991;0.991	D;D;D	0.74674	0.984;0.93;0.93	D	0.96880	0.9645	10	0.87932	D	0	.	14.522	0.67856	0.0:0.929:0.0:0.071	.	80;110;110	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	F	110;110;80;110;110;110;110;110;110	ENSP00000381133:V110F;ENSP00000429757:V110F;ENSP00000371263:V110F;ENSP00000401952:V110F;ENSP00000381131:V110F;ENSP00000371262:V110F;ENSP00000428430:V110F	ENSP00000221204:V110F	V	-	1	0	FGL1	17776227	1.000000	0.71417	0.718000	0.30602	0.601000	0.36947	7.133000	0.77259	1.416000	0.47057	0.650000	0.86243	GTT	FGL1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000104760		0.383	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL1	HGNC	protein_coding	OTTHUMT00000375254.1	-	0	53	0	C	NM_004467		17731947	-1	tier1	-	no_errors	ENST00000381840	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.901	A	A	17731947	C	A	17731947	3	1	124	1	0	0	0	0	1	0	0	0	5894	478	17	3	630	3	FGL1	8	17731947	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	6579185	17731947	128632075	67	32191											
DOCK5	80005	genome.wustl.edu	37	chr8	25261196	25261196	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctctgtggtttccacctcTtcaaactcgtctgacaatgc	7	14	6	14	1	4	1	1	1	3	0	7	1	6	1	3	1	2	1	3	1	2	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:25261196T>A	ENST00000276440.7	+	48	5093	c.5049T>A	c.(5047-5049)tcT>tcA	p.S1683S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1683					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)		TTTCCACCTCTTCAAACTCGT	0.507																																					Pancreas(145;34 1887 3271 10937 30165)												0													192	156	169					8																	25261196		2203	4300	6503	SO:0001819	synonymous_variant	0				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.5049T>A	8.37:g.25261196T>A			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.S1683	ENST00000276440.7	37	c.5049	CCDS6047.1	8																																																																																			DOCK5	-	NULL	ENSG00000147459		0.507	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	-	0	98	0	T	NM_024940		25261196	1	tier1	-	no_errors	ENST00000276440	ensembl	human	known	74_37	silent	26.37	67	24	SNP	0.980	A	A	25261196	T	A	25261196	2	1	124	1	0	0	0	0	0	0	0	1	4704	1596	56	5		5	DOCK5	8	25261196	Silent	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	7529249	25261196	121102826	68	32192											
IKBKB	3551	genome.wustl.edu	37	chr8	42176904	42176904	+	Missense_Mutation	SNP	T	T	C	0	1	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	aaccagcatccagattgaccTggagaagtacagcgagcaaa	16	5	10	10	1	0	3	0	1	0	2	1	5	1	3	3	1	5	3	3	1	4	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:42176904T>C	ENST00000520810.1	+	14	1667	c.1481T>C	c.(1480-1482)cTg>cCg	p.L494P	IKBKB_ENST00000379708.3_Missense_Mutation_p.L271P|IKBKB_ENST00000520835.1_Missense_Mutation_p.L492P|IKBKB_ENST00000416505.2_Missense_Mutation_p.L435P|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000522785.1_3'UTR	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	494					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)	CAGATTGACCTGGAGAAGTAC	0.423											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													122	113	116					8																	42176904		2203	4300	6503	SO:0001583	missense	0			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.1481T>C	8.37:g.42176904T>C	ENSP00000430684:p.Leu494Pro	906	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L494P	ENST00000520810.1	37	c.1481	CCDS6128.1	8	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339406	0.81911	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;D;T;T	0.81996	-1.45;-1.56;-1.39;2.15	5.95	4.78	0.61160	.	0.125201	0.53938	D	0.000042	D	0.90270	0.6957	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.823;0.992;0.998;0.982;0.982	D	0.90541	0.4502	10	0.66056	D	0.02	.	12.3649	0.55222	0.1264:0.0:0.0:0.8736	.	435;492;271;445;494	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920	.;.;.;.;IKKB_HUMAN	P	494;435;492;271	ENSP00000430684:L494P;ENSP00000404920:L435P;ENSP00000430868:L492P;ENSP00000369030:L271P	ENSP00000369030:L271P	L	+	2	0	IKBKB	42296061	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.057000	0.40506	0.460000	0.39030	CTG	IKBKB	-	NULL	ENSG00000104365		0.423	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKB	HGNC	protein_coding	OTTHUMT00000377214.1	-	0	35	0	T			42176904	1	tier1	-	no_errors	ENST00000520810	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	C	C	42176904	T	C	42176904	3	2	124	1	0	0	0	0	1	0	0	0	7638	1580	55	4	1531	4	IKBKB	8	42176904	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	16915708	42176904	104187118	69	32193											
ZFPM2	23414	genome.wustl.edu	37	chr8	106811047	106811047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcagtgggaggcaaagaGaagctgctccggtgtcagag	11	6	16	8	1	1	2	1	0	0	2	2	4	2	3	1	3	3	4	1	3	2	0			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:106811047G>A	ENST00000407775.2	+	7	1085	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E147K|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E147K|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E10K	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	279					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGGCAAAGAGAAGCTGCTCC	0.522																																																	0													110	114	112					8																	106811047		2089	4228	6317	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.835G>A	8.37:g.106811047G>A	ENSP00000384179:p.Glu279Lys		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E279K	ENST00000407775.2	37	c.835	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599091	0.87055	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19938	2.11;2.59;2.59;3.79	6.06	6.06	0.98353	.	0.092954	0.64402	D	0.000001	T	0.19685	0.0473	L	0.40543	1.245	0.80722	D	1	P	0.36282	0.546	B	0.26770	0.073	T	0.01397	-1.1365	10	0.41790	T	0.15	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	279	Q8WW38	FOG2_HUMAN	K	279;147;147;10	ENSP00000384179:E279K;ENSP00000430757:E147K;ENSP00000428720:E147K;ENSP00000367733:E10K	ENSP00000367733:E10K	E	+	1	0	ZFPM2	106880223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GAA	ZFPM2	-	NULL	ENSG00000169946		0.522	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0	56	0	G			106811047	1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	19.12	55	13	SNP	1.000	A	A	106811047	G	A	106811047	3	1	124	1	0	0	0	0	1	0	0	0	17706	943	33	3	861	3	ZFPM2	8	106811047	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	64634143	106811047	39552975	70	32194											
CSMD3	114788	genome.wustl.edu	37	chr8	114031351	114031351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtctgtaacaaaatgCagtctgagccagtttttgtt	9	16	9	7	0	2	1	0	1	2	0	2	1	2	1	1	0	4	5	1	0	3	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr8:114031351C>T	ENST00000297405.5	-	6	1219	c.975G>A	c.(973-975)ctG>ctA	p.L325L	CSMD3_ENST00000455883.2_Silent_p.L325L|CSMD3_ENST00000343508.3_Silent_p.L285L|CSMD3_ENST00000352409.3_Silent_p.L325L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	325	CUB 2. {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						TAACAAAATGCAGTCTGAGCC	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													219	199	206					8																	114031351		2203	4300	6503	SO:0001819	synonymous_variant	0			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.975G>A	8.37:g.114031351C>T			Q96PZ3	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.L325	ENST00000297405.5	37	c.975	CCDS6315.1	8																																																																																			CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	59	0	C	NM_052900		114031351	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T	T	114031351	C	T	114031351	2	4	124	1	0	0	0	0	0	0	0	1	3955	697	25	3		3	CSMD3	8	114031351	Silent	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	7220304	114031351	32332671	71	32195											
OR13C3	138803	genome.wustl.edu	37	chr9	107298655	107298655	+	Missense_Mutation	SNP	A	A	T	1	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	cataacgatcaaatgccatcAtgccaagaagcagacattct	16	8	6	11	1	3	2	2	0	1	2	3	3	3	2	2	0	4	1	2	0	4	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr9:107298655A>T	ENST00000374781.2	-	1	482	c.440T>A	c.(439-441)aTg>aAg	p.M147K		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AAATGCCATCATGCCAAGAAG	0.463																																					GBM(86;1248 1274 14222 15028 46219)												0													229	196	207					9																	107298655		2203	4300	6503	SO:0001583	missense	0				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.440T>A	9.37:g.107298655A>T	ENSP00000363913:p.Met147Lys		Q5VVG1|Q6IF52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M147K	ENST00000374781.2	37	c.440	CCDS35089.1	9	.	.	.	.	.	.	.	.	.	.	A	15.68	2.906209	0.52333	.	.	ENSG00000204246	ENST00000374781	T	0.01933	4.55	4.72	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.05318	0.0141	M	0.73962	2.25	0.32537	N	0.534216	P	0.50819	0.939	B	0.44044	0.439	T	0.05386	-1.0888	10	0.87932	D	0	.	12.4646	0.55751	1.0:0.0:0.0:0.0	.	147	Q8NGS6	O13C3_HUMAN	K	147	ENSP00000363913:M147K	ENSP00000363913:M147K	M	-	2	0	OR13C3	106338476	0.002000	0.14202	1.000000	0.80357	0.637000	0.38172	1.985000	0.40668	2.110000	0.64415	0.482000	0.46254	ATG	OR13C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000204246		0.463	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	HGNC	protein_coding	OTTHUMT00000053477.2	-	0	89	0	A			107298655	-1	tier1	-	no_errors	ENST00000374781	ensembl	human	known	74_37	missense	63.49	23	40	SNP	0.980	T	T	107298655	A	T	107298655	3	4	124	1	0	0	0	0	1	0	0	0	10974	217	8	5	607	5	OR13C3	9	107298655	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09		107298655	33914776	72	32196											
PTPN3	5774	genome.wustl.edu	37	chr9	112219585	112219585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacttacaggagagtccacgGagtcgtcatcatgctgtaaa	12	9	10	10	2	2	1	2	0	0	1	4	3	3	2	1	2	2	2	1	2	3	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr9:112219585G>A	ENST00000374541.2	-	3	337	c.233C>T	c.(232-234)tCc>tTc	p.S78F	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	78	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						AGAGTCCACGGAGTCGTCATC	0.418																																																	0													121	114	116					9																	112219585		2203	4300	6503	SO:0001583	missense	0				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.233C>T	9.37:g.112219585G>A	ENSP00000363667:p.Ser78Phe		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S78F	ENST00000374541.2	37	c.233	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206506	0.58343	.	.	ENSG00000070159	ENST00000394831;ENST00000374541	T	0.77877	-1.13	5.66	5.66	0.87406	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.534849	0.19431	N	0.114428	D	0.87055	0.6082	M	0.83223	2.63	0.80722	D	1	P;D;P	0.53462	0.564;0.96;0.708	P;P;P	0.54312	0.608;0.748;0.507	D	0.88180	0.2870	10	0.66056	D	0.02	.	19.335	0.94312	0.0:0.0:1.0:0.0	.	78;78;78	B7Z9V1;Q45VJ3;P26045	.;.;PTN3_HUMAN	F	78	ENSP00000363667:S78F	ENSP00000363667:S78F	S	-	2	0	PTPN3	111259406	1.000000	0.71417	0.033000	0.17914	0.456000	0.32438	4.204000	0.58460	2.681000	0.91329	0.462000	0.41574	TCC	PTPN3	-	pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain	ENSG00000070159		0.418	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	-	0	69	0	G			112219585	-1	tier1	-	no_errors	ENST00000374541	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.601	A	A	112219585	G	A	112219585	3	1	124	1	0	0	0	0	1	0	0	0	12834	1174	41	3	2604	3	PTPN3	9	112219585	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	4920930	112219585	28993846	73	32197											
ARHGAP12	94134	genome.wustl.edu	37	chr10	32101634	32101634	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaatacttctcctaccaaCctttaatataacctttttca	14	15	0	12	0	2	0	1	0	1	0	3	0	2	0	4	0	5	0	4	0	8	9			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr10:32101634C>A	ENST00000344936.2	-	15	2186		c.e15+1		ARHGAP12_ENST00000311380.4_Splice_Site|ARHGAP12_ENST00000375245.4_Splice_Site|ARHGAP12_ENST00000396144.4_Splice_Site|ARHGAP12_ENST00000492028.1_Splice_Site|ARHGAP12_ENST00000375250.5_Splice_Site	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12						morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CTCCTACCAACCTTTAATATA	0.299																																																	0													114	115	115					10																	32101634		2203	4300	6503	SO:0001630	splice_region_variant	0			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1951+1G>T	10.37:g.32101634C>A			B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Splice_Site	SNP	-	e13+1	ENST00000344936.2	37	c.1951+1	CCDS7170.1	10	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515029	0.85389	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7278	0.96172	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP12	32141640	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.749000	0.85096	2.656000	0.90262	0.591000	0.81541	.	ARHGAP12	-	-	ENSG00000165322		0.299	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	ARHGAP12	HGNC	protein_coding	OTTHUMT00000047465.1	-	0	158	0	C		Intron	32101634	-1	tier1	-	no_errors	ENST00000344936	ensembl	human	known	74_37	splice_site	30.51	82	36	SNP	1.000	A	A	32101634	C	A	32101634	5	1	124	1	0	0	0	0	0	0	1	0	865	521	18	3	612	3	ARHGAP12	10	32101634	Splice_Site	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09		32101634	103433113	74	32198											
NCOA4	8031	genome.wustl.edu	37	chr10	51586352	51586352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctgcagtttgtgatctcTttgcctgtatgcagcttaaa	7	16	8	10	0	1	1	0	1	1	0	3	1	2	1	2	0	4	5	2	0	3	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr10:51586352T>C	ENST00000443446.1	+	9	2009	c.1780T>C	c.(1780-1782)Ttt>Ctt	p.F594L	NCOA4_ENST00000452682.1_Missense_Mutation_p.F610L|NCOA4_ENST00000374087.4_Missense_Mutation_p.F594L|NCOA4_ENST00000438493.1_Missense_Mutation_p.F610L|NCOA4_ENST00000344348.6_Missense_Mutation_p.F594L|NCOA4_ENST00000430396.2_Missense_Mutation_p.F494L|NCOA4_ENST00000374082.1_Silent_p.S548S|NCOA4_ENST00000414907.2_Missense_Mutation_p.F428L	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	594					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTGTGATCTCTTTGCCTGTAT	0.408			T	RET	papillary thyroid																																			Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	0													145	142	143					10																	51586352		2203	4300	6503	SO:0001583	missense	0			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1780T>C	10.37:g.51586352T>C	ENSP00000390713:p.Phe594Leu		A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	pfam_ARA70	p.F610L	ENST00000443446.1	37	c.1828	CCDS7237.1	10	.	.	.	.	.	.	.	.	.	.	T	35	5.422500	0.96111	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000330923;ENST00000414907;ENST00000344348;ENST00000443446	T;T;T;T;T;T;T	0.44881	1.48;1.41;1.2;1.51;0.91;1.51;1.51	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.68593	2.085	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.994;0.994;0.994	T	0.56920	-0.7899	10	0.19590	T	0.45	-7.5609	16.4622	0.84064	0.0:0.0:0.0:1.0	.	494;610;610;594	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	L	610;610;494;594;267;428;594;594	ENSP00000405146:F610L;ENSP00000395465:F610L;ENSP00000393053:F494L;ENSP00000363200:F594L;ENSP00000411018:F428L;ENSP00000344552:F594L;ENSP00000390713:F594L	ENSP00000332421:F267L	F	+	1	0	NCOA4	51256358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.172000	0.77604	2.289000	0.77006	0.533000	0.62120	TTT	NCOA4	-	NULL	ENSG00000138293		0.408	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA4	HGNC	protein_coding	OTTHUMT00000048052.1	-	0	77	0	T	NM_005437		51586352	1	tier1	-	no_errors	ENST00000452682	ensembl	human	known	74_37	missense	30.30	46	20	SNP	1.000	C	C	51586352	T	C	51586352	3	2	124	1	0	0	0	0	1	0	0	0	10270	1609	56	4	1862	4	NCOA4	10	51586352	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	19484718	51586352	83948395	75	32199											
PLAU	414236	genome.wustl.edu	37	chr10	75673298	75673298	+	Intron	DEL	A	A	-																															ccctctgtttgtcctccaggAaaaaagccctcctctcctcc																										TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr10:75673298delA	ENST00000409178.1	-	3	268				PLAU_ENST00000372764.3_Splice_Site_p.G154fs|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Splice_Site_p.G137fs|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Splice_Site_p.G118fs	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GTCCTCCAGGAAAAAAGCCCT	0.517																																																	0													156	188	177					10																	75673298		2203	4300	6503	SO:0001627	intron_variant	0				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-465T>-	10.37:g.75673298delA			Q3KRG4|Q8NAK4	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.K156fs	ENST00000409178.1	37	c.462	CCDS53541.1	10																																																																																			PLAU	-	superfamily_Kringle-like	ENSG00000122861		0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	HGNC	protein_coding	OTTHUMT00000048746.1		0	35	0	A	NM_001001791		75673298	1	tier1		no_errors	ENST00000372764	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	0.431	-	-	75673298	A	-	75673298	6	5	124	0	1	1	0	1	0	0	0	0	12061	260	9	0		0	PLAU	10	75673298	Intron	DEL	A	TCGA-LN-A7HV-01A-21D-A351-09	24086946	75673298	59861449	76	32200											
PTEN	5728	genome.wustl.edu	37	chr10	89653835	89653835	+	Frame_Shift_Del	DEL	G	G	-																															ctgcagaaagacttgaaggcGtatacaggaacaatattgat																										TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr10:89653835delG	ENST00000371953.3	+	2	1490	c.133delG	c.(133-135)gtafs	p.V45fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	45	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.?(8)|p.Y27fs*1(2)|p.V45fs*9(1)|p.G44fs*8(1)|p.G44fs*11(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)		ACTTGAAGGCGTATACAGGAA	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)|Complex - frameshift(1)	prostate(15)|central_nervous_system(8)|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)											113	113	113					10																	89653835		2203	4296	6499	SO:0001589	frameshift_variant	0	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.133delG	10.37:g.89653835delG	ENSP00000361021:p.Val45fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.V45fs	ENST00000371953.3	37	c.133	CCDS31238.1	10																																																																																			PTEN	-	smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.294	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1		0	76	0	G	NM_000314		89653835	1	tier1		no_errors	ENST00000371953	ensembl	human	known	74_37	frame_shift_del	49.12	29	28	DEL	1.000	-	-	89653835	G	-	89653835	7	5	124	1	0	1	0	1	0	0	0	0	12780	1145	40	0	139	0	PTEN	10	89653835	Frame_Shift_Del	DEL	G	TCGA-LN-A7HV-01A-21D-A351-09	13980537	89653835	45880912	77	32201											
KIAA1598	57698	genome.wustl.edu	37	chr10	118689440	118689440	+	Missense_Mutation	SNP	T	T	A	0	1	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	ttttatcttcctctagaagcTccagttgctgtttgaggttg	6	18	9	8	0	2	2	0	1	2	1	4	2	4	2	2	1	2	5	2	1	3	7			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr10:118689440T>A	ENST00000355371.4	-	10	1429	c.932A>T	c.(931-933)gAg>gTg	p.E311V	KIAA1598_ENST00000260777.10_Missense_Mutation_p.E311V|KIAA1598_ENST00000392903.2_Missense_Mutation_p.E311V|KIAA1598_ENST00000392901.4_Missense_Mutation_p.E251V|KIAA1598_ENST00000497044.1_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	311					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTCTAGAAGCTCCAGTTGCTG	0.328																																																	0													194	185	188					10																	118689440		2202	4298	6500	SO:0001583	missense	0			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.932A>T	10.37:g.118689440T>A	ENSP00000347532:p.Glu311Val		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	superfamily_Adenylate_cyclase-assoc_CAP_N	p.E311V	ENST00000355371.4	37	c.932	CCDS44482.1	10	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765073	0.69878	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	T;T;T;T	0.75477	1.48;1.48;1.48;-0.94	5.59	4.44	0.53790	.	0.095201	0.64402	D	0.000001	T	0.75184	0.3815	M	0.63843	1.955	0.43740	D	0.996239	P;B;P	0.48503	0.911;0.232;0.853	P;B;P	0.48704	0.587;0.315;0.584	T	0.75266	-0.3378	10	0.54805	T	0.06	-9.7812	9.4935	0.38974	0.0:0.0846:0.0:0.9154	.	311;311;281	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	V	311;311;311;251	ENSP00000376636:E311V;ENSP00000260777:E311V;ENSP00000347532:E311V;ENSP00000376635:E251V	ENSP00000260777:E311V	E	-	2	0	KIAA1598	118679430	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	1.833000	0.39161	1.038000	0.40049	0.459000	0.35465	GAG	KIAA1598	-	NULL	ENSG00000187164		0.328	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	HGNC	protein_coding			0	62	0	T	NM_018330		118689440	-1			no_errors	ENST00000392903	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.999	A	A	118689440	T	A	118689440	3	1	124	1	0	0	0	0	1	0	0	0	8273	1551	54	5	995	5	KIAA1598	10	118689440	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	29035605	118689440	16845307	78	32202											
KCNQ1	3784	genome.wustl.edu	37	chr11	2869032	2869032	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggctggcactcatcacCgacatgcttcaccagctgct	9	8	9	15	1	3	1	3	0	0	1	3	2	3	1	2	2	3	5	2	2	0	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:2869032C>A	ENST00000155840.5	+	16	1938	c.1830C>A	c.(1828-1830)acC>acA	p.T610T	KCNQ1_ENST00000335475.5_Silent_p.T483T|KCNQ1-AS1_ENST00000440887.2_RNA|KCNQ1_ENST00000526095.1_3'UTR	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	610	Subunits assembly domain.				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)	CACTCATCACCGACATGCTTC	0.677																																																	0													20	16	17					11																	2869032		2192	4297	6489	SO:0001819	synonymous_variant	0			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.1830C>A	11.37:g.2869032C>A			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.T610	ENST00000155840.5	37	c.1830	CCDS7736.1	11																																																																																			KCNQ1	-	pfam_K_chnl_volt-dep_KCNQ_C,prints_K_chnl_volt-dep_KCQN1	ENSG00000053918		0.677	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	HGNC	protein_coding	OTTHUMT00000027382.2	-	0	31	0	C	NM_000218		2869032	1	tier1	-	no_errors	ENST00000155840	ensembl	human	known	74_37	silent	22.50	31	9	SNP	0.257	A	A	2869032	C	A	2869032	2	1	124	1	0	0	0	0	0	0	0	1	8109	639	23	2		2	KCNQ1	11	2869032	Silent	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09		2869032	132137484	79	32203											
PGAP2	27315	genome.wustl.edu	37	chr11	3845137	3845137	+	Missense_Mutation	SNP	A	A	G	1	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	ccaattacctgccctcggtgAgctcagccatcggcggggag	7	7	13	14	3	1	1	1	1	0	0	3	2	1	2	4	4	4	1	4	4	2	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:3845137A>G	ENST00000463452.2	+	3	273	c.190A>G	c.(190-192)Agc>Ggc	p.S64G	PGAP2_ENST00000396993.4_Missense_Mutation_p.E17G|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000278243.4_Missense_Mutation_p.S125G|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000300730.6_Missense_Mutation_p.S121G|PGAP2_ENST00000396991.2_Missense_Mutation_p.S125G|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000465307.2_Missense_Mutation_p.E67G|PGAP2_ENST00000396986.2_Missense_Mutation_p.S121G|PGAP2_ENST00000493547.2_Missense_Mutation_p.S64G	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	64					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GCCCTCGGTGAGCTCAGCCAT	0.627																																																	0													72	75	74					11																	3845137		2201	4298	6499	SO:0001583	missense	0			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"FGF receptor activating protein 1", "cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"	615187	"mental retardation, non-syndromic, autosomal recessive, 21"	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.190A>G	11.37:g.3845137A>G	ENSP00000435223:p.Ser64Gly		E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.S125G	ENST00000463452.2	37	c.373	CCDS58112.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	22.8|22.8|22.8	4.331903|4.331903|4.331903	0.81801|0.81801|0.81801	.|.|.	.|.|.	ENSG00000148985|ENSG00000148985|ENSG00000148985	ENST00000396993;ENST00000532523;ENST00000465307|ENST00000396986;ENST00000300730;ENST00000396991;ENST00000464261;ENST00000493547;ENST00000278243;ENST00000463452;ENST00000469307|ENST00000532535;ENST00000459679;ENST00000464906	.|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|.	5.59|5.59|5.59	5.59|5.59|5.59	0.84812|0.84812|0.84812	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.79981|0.79981|.	0.4540|0.4540|.	M|M|M	0.90542|0.90542|0.90542	3.125|3.125|3.125	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|D;D;D;D;D|.	0.89917|0.89917|.	1.0;0.999|0.972;0.965;1.0;0.999;0.965|.	D;D|P;P;D;D;P|.	0.74348|0.91635|.	0.983;0.915|0.866;0.885;0.999;0.996;0.885|.	D|D|.	0.83820|0.83820|.	0.0246|0.0246|.	7|10|.	.|0.54805|.	.|T|.	.|0.06|.	-20.8805|-20.8805|-20.8805	12.1615|12.1615|12.1615	0.54107|0.54107|0.54107	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	67;17|121;64;125;64;64|.	B7Z2X5;A8MZF5|A8MYS5;Q9UHJ9-3;Q9UHJ9;E9PJG5;Q9UHJ9-2|.	.;.|.;.;PGAP2_HUMAN;.;.|.	G|G|W	17;82;67|121;121;125;94;64;125;64;64|137;94;154	.|ENSP00000380183:S121G;ENSP00000300730:S121G;ENSP00000380188:S125G;ENSP00000434088:S94G;ENSP00000431851:S64G;ENSP00000278243:S125G;ENSP00000435223:S64G;ENSP00000434507:S64G|.	.|ENSP00000278243:S125G|.	E|S|X	+|+|+	2|1|3	0|0|0	PGAP2|PGAP2|PGAP2	3801713|3801713|3801713	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	8.367000|8.367000|8.367000	0.90113|0.90113|0.90113	2.115000|2.115000|2.115000	0.64714|0.64714|0.64714	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAG|AGC|TGA	PGAP2	-	pfam_Frag1/DRAM/Sfk1	ENSG00000148985		0.627	PGAP2-049	KNOWN	basic|CCDS	protein_coding	PGAP2	HGNC	protein_coding	OTTHUMT00000383260.1	-	0	18	0	A			3845137	1	tier1	-	no_errors	ENST00000278243	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	G	G	3845137	A	G	3845137	3	3	124	1	0	0	0	0	1	0	0	0	11817	304	11	4	562	4	PGAP2	11	3845137	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	976105	3845137	131161379	80	32204											
ZNF143	7702	genome.wustl.edu	37	chr11	9534025	9534025	+	Missense_Mutation	SNP	A	A	G	1	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	agatgttcttaaagggtcccAgattacgtatgttacaggtg	11	13	11	6	1	1	2	0	0	1	2	2	2	2	2	1	2	2	3	1	2	5	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:9534025A>G	ENST00000396602.2	+	13	1525	c.1406A>G	c.(1405-1407)cAg>cGg	p.Q469R	ZNF143_ENST00000530463.1_Missense_Mutation_p.Q468R|ZNF143_ENST00000299606.2_Missense_Mutation_p.Q441R|ZNF143_ENST00000396604.1_Missense_Mutation_p.Q468R|ZNF143_ENST00000396597.3_Missense_Mutation_p.Q438R	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	469					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AAAGGGTCCCAGATTACGTAT	0.373																																																	0													175	158	164					11																	9534025		2201	4294	6495	SO:0001583	missense	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1406A>G	11.37:g.9534025A>G	ENSP00000379847:p.Gln469Arg		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q469R	ENST00000396602.2	37	c.1406	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928861	0.34002	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	T;T;T;T;T	0.09538	2.97;2.99;2.97;2.99;3.01	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	T	0.16981	0.0408	N	0.14661	0.345	0.42590	D	0.993248	P;P;P	0.48294	0.908;0.851;0.851	D;P;P	0.64144	0.922;0.838;0.838	T	0.20075	-1.0286	10	0.30854	T	0.27	.	15.873	0.79136	1.0:0.0:0.0:0.0	.	438;468;469	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	R	468;469;468;438;441	ENSP00000379849:Q468R;ENSP00000379847:Q469R;ENSP00000432154:Q468R;ENSP00000379843:Q438R;ENSP00000299606:Q441R	ENSP00000299606:Q441R	Q	+	2	0	ZNF143	9490601	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	5.101000	0.64566	2.208000	0.71279	0.459000	0.35465	CAG	ZNF143	-	NULL	ENSG00000166478		0.373	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	-	0	72	0	A	NM_003442		9534025	1	tier1	-	no_errors	ENST00000396602	ensembl	human	known	74_37	missense	32.69	35	17	SNP	1.000	G	G	9534025	A	G	9534025	3	3	124	1	0	0	0	0	1	0	0	0	17780	188	7	4	1452	4	ZNF143	11	9534025	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	5688888	9534025	125472491	81	32205											
FAR1	84188	genome.wustl.edu	37	chr11	13749173	13749173	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactgcttgggaactaagaAgtacgtattgaatgaagaaa	16	10	10	5	1	0	4	0	2	0	2	0	5	0	5	0	1	4	3	0	1	9	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:13749173A>T	ENST00000354817.3	+	11	1472	c.1328A>T	c.(1327-1329)aAg>aTg	p.K443M	FAR1_ENST00000532502.1_Missense_Mutation_p.K67M	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	443					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						GGAACTAAGAAGTACGTATTG	0.368																																																	0													126	126	126					11																	13749173		2200	4294	6494	SO:0001583	missense	0			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.1328A>T	11.37:g.13749173A>T	ENSP00000346874:p.Lys443Met		D3DQW8|Q5CZA3	Missense_Mutation	SNP	pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase	p.K443M	ENST00000354817.3	37	c.1328	CCDS7813.1	11	.	.	.	.	.	.	.	.	.	.	A	27.7	4.856928	0.91433	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.29142	1.58	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.60826	-0.7186	10	0.56958	D	0.05	-21.5578	15.7281	0.77780	1.0:0.0:0.0:0.0	.	443	Q8WVX9	FACR1_HUMAN	M	443;67	ENSP00000346874:K443M	ENSP00000346874:K443M	K	+	2	0	FAR1	13705749	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.287000	0.95975	2.246000	0.74042	0.533000	0.62120	AAG	FAR1	-	pfam_FAR	ENSG00000197601		0.368	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR1	HGNC	protein_coding	OTTHUMT00000385990.2	-	0	84	0	A	NM_032228		13749173	1	tier1	-	no_errors	ENST00000354817	ensembl	human	known	74_37	missense	51.61	30	32	SNP	1.000	T	T	13749173	A	T	13749173	3	4	124	1	0	0	0	0	1	0	0	0	5696	72	3	5	1366	5	FAR1	11	13749173	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	4215148	13749173	121257343	82	32206											
SLC17A6	57084	genome.wustl.edu	37	chr11	22387154	22387154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttatgaaagtcctgcaaaGcatcctactattacagatga	14	12	6	9	0	1	3	0	2	1	1	3	3	3	3	2	0	4	2	2	0	6	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:22387154G>A	ENST00000263160.3	+	7	1247	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	270					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GTCCTGCAAAGCATCCTACTA	0.388																																																	0													228	208	214					11																	22387154		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.810G>A	11.37:g.22387154G>A			A6NKS2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K270	ENST00000263160.3	37	c.810	CCDS7856.1	11																																																																																			SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000091664		0.388	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0	117	0	G	NM_020346		22387154	1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	silent	35.54	78	43	SNP	0.998	A	A	22387154	G	A	22387154	2	1	124	1	0	0	0	0	0	0	0	1	14466	962	34	3		3	SLC17A6	11	22387154	Silent	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	8637981	22387154	112619362	83	32207											
OR4D10	390197	genome.wustl.edu	37	chr11	59245628	59245628	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatctccacctgcacctcCcacatcactgtggtgaccct	7	9	6	19	0	2	1	1	1	1	0	4	1	3	1	6	1	1	1	6	1	0	0			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:59245628C>T	ENST00000530162.1	+	1	783	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	242						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						CCTGCACCTCCCACATCACTG	0.537																																																	0													178	159	165					11																	59245628		2201	4295	6496	SO:0001819	synonymous_variant	0			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.726C>T	11.37:g.59245628C>T			B2RNH6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S242	ENST00000530162.1	37	c.726	CCDS53636.1	11																																																																																			OR4D10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000254466		0.537	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1		0	90	0	C	NM_001004705		59245628	1			no_errors	ENST00000530162	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.812	T	T	59245628	C	T	59245628	2	4	124	1	0	0	0	0	0	0	0	1	11093	610	22	3		3	OR4D10	11	59245628	Silent	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	36858474	59245628	75760888	84	32208											
POLD3	10714	genome.wustl.edu	37	chr11	74324010	74324010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacagtgggcctctgttcaAtactgactatgacatcctta	10	12	9	10	0	2	2	1	2	1	0	3	3	3	3	2	2	1	1	2	2	4	4	rs142882622		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:74324010A>G	ENST00000263681.2	+	5	476	c.347A>G	c.(346-348)aAt>aGt	p.N116S	POLD3_ENST00000532497.1_Missense_Mutation_p.N10S|POLD3_ENST00000527458.1_Missense_Mutation_p.N77S	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	116					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CCTCTGTTCAATACTGACTAT	0.438													A|||	1	0.000199681	8e-04	0	5008	,	,		21528	0		0	False		,,,				2504	0																0								A	SER/ASN	0,4400		0,0,2200	196	165	176		347	5.7	1	11	dbSNP_134	176	1,8585	1.2+/-3.3	0,1,4292	no	missense	POLD3	NM_006591.1	46	0,1,6492	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	116/467	74324010	1,12985	2200	4293	6493	SO:0001583	missense	0			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.347A>G	11.37:g.74324010A>G	ENSP00000263681:p.Asn116Ser		B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	pfam_DNA_polymerase_subunit_Cdc27	p.N116S	ENST00000263681.2	37	c.347	CCDS8233.1	11	.	.	.	.	.	.	.	.	.	.	A	6.649	0.488156	0.12641	0.0	1.16E-4	ENSG00000077514	ENST00000528481;ENST00000263681;ENST00000527458;ENST00000532497;ENST00000538052;ENST00000530511;ENST00000531615	.	.	.	5.68	5.68	0.88126	.	0.223960	0.45126	D	0.000393	T	0.52948	0.1766	L	0.52364	1.645	0.43688	D	0.996132	B	0.23316	0.083	B	0.20384	0.029	T	0.49624	-0.8920	9	0.07644	T	0.81	-17.9153	13.8939	0.63757	1.0:0.0:0.0:0.0	.	116	Q15054	DPOD3_HUMAN	S	77;116;77;10;116;77;77	.	ENSP00000263681:N116S	N	+	2	0	POLD3	74001658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.829000	0.48128	2.158000	0.67659	0.455000	0.32223	AAT	POLD3	-	pfam_DNA_polymerase_subunit_Cdc27	ENSG00000077514		0.438	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD3	HGNC	protein_coding	OTTHUMT00000385376.1	-	0	37	0	A	NM_006591		74324010	1	tier1	rs142882622	no_errors	ENST00000263681	ensembl	human	known	74_37	missense	25.00	26	9	SNP	1.000	G	G	74324010	A	G	74324010	3	3	124	1	0	0	0	0	1	0	0	0	12231	101	4	4	365	4	POLD3	11	74324010	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	15078382	74324010	60682506	85	32209											
MLL	4297	genome.wustl.edu	37	chr11	118375390	118375390	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaacagtttgagttgcctcTagagctaccatctgatctgt	9	13	10	9	0	3	3	0	2	3	1	3	4	3	4	2	1	4	3	2	1	3	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr11:118375390T>A	ENST00000389506.5	+	27	8774	c.8774T>A	c.(8773-8775)cTa>cAa	p.L2925Q	KMT2A_ENST00000354520.4_Missense_Mutation_p.L2887Q|KMT2A_ENST00000534358.1_Missense_Mutation_p.L2928Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2925					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)										GAGTTGCCTCTAGAGCTACCA	0.493																																																	0													132	122	125					11																	118375390		2200	4295	6495	SO:0001583	missense	0			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.8774T>A	11.37:g.118375390T>A	ENSP00000374157:p.Leu2925Gln		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.L2925Q	ENST00000389506.5	37	c.8774	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	T	10.98	1.505171	0.26949	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.89681	-2.55;-2.55;-2.5	6.17	5.02	0.67125	.	0.072884	0.56097	N	0.000025	D	0.83852	0.5344	L	0.46157	1.445	0.21604	N	0.999627	P;P	0.37122	0.583;0.583	B;B	0.29942	0.109;0.109	T	0.76987	-0.2755	10	0.87932	D	0	.	12.7002	0.57026	0.1235:0.0:0.0:0.8765	.	2928;2925	E9PQG7;Q03164	.;MLL1_HUMAN	Q	2928;2925;2887;1835	ENSP00000436786:L2928Q;ENSP00000374157:L2925Q;ENSP00000346516:L2887Q	ENSP00000346516:L2887Q	L	+	2	0	MLL	117880600	0.989000	0.36119	0.017000	0.16124	0.980000	0.70556	7.698000	0.84413	1.097000	0.41459	0.533000	0.62120	CTA	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	55	0	T	NM_005933		118375390	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	52.73	26	29	SNP	0.068	A	A	118375390	T	A	118375390	3	1	124	1	0	0	0	0	1	0	0	0	9658	1522	53	5	8880	5	MLL	11	118375390	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	44051380	118375390	16631126	86	32210											
KCNA5	3741	genome.wustl.edu	37	chr12	5155081	5155081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagagaagtgtaacgtcaagGccaagagcaacgtggacttg	14	7	13	7	2	1	2	1	0	0	2	1	4	1	3	1	2	3	2	1	2	6	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:5155081G>A	ENST00000252321.3	+	1	1997	c.1768G>A	c.(1768-1770)Gcc>Acc	p.A590T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	590					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|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 membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TAACGTCAAGGCCAAGAGCAA	0.597																																																	0													40	40	40					12																	5155081		2203	4300	6503	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1768G>A	12.37:g.5155081G>A	ENSP00000252321:p.Ala590Thr		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.A590T	ENST00000252321.3	37	c.1768	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772307	0.49680	.	.	ENSG00000130037	ENST00000252321	D	0.97850	-4.57	5.5	5.5	0.81552	.	0.503425	0.16935	U	0.193540	D	0.96352	0.8810	L	0.57536	1.79	0.44694	D	0.997685	P	0.47762	0.9	B	0.43225	0.412	D	0.95381	0.8473	10	0.10636	T	0.68	.	18.3704	0.90405	0.0:0.0:1.0:0.0	.	590	P22460	KCNA5_HUMAN	T	590	ENSP00000252321:A590T	ENSP00000252321:A590T	A	+	1	0	KCNA5	5025342	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.321000	0.72881	2.596000	0.87737	0.561000	0.74099	GCC	KCNA5	-	prints_K_chnl_volt-dep_Kv1.5	ENSG00000130037		0.597	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	-	0	56	0	G	NM_002234		5155081	1	tier1	-	no_errors	ENST00000252321	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.998	A	A	5155081	G	A	5155081	3	1	124	1	0	0	0	0	1	0	0	0	8033	1203	42	3	1770	3	KCNA5	12	5155081	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09		5155081	128696814	87	32211											
TAS2R46	259292	genome.wustl.edu	37	chr12	11214379	11214379	+	Missense_Mutation	SNP	A	A	G	1	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	ccgttgtatttgaaaggtacAttgcactcctcagtttgatc	9	15	8	9	1	1	2	1	2	0	0	3	2	2	2	2	1	2	5	2	1	3	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:11214379A>G	ENST00000533467.1	-	1	514	c.515T>C	c.(514-516)aTg>aCg	p.M172T	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	172					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)		TGAAAGGTACATTGCACTCCT	0.353																																																	0													166	170	169					12																	11214379		2202	4299	6501	SO:0001583	missense	0			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.515T>C	12.37:g.11214379A>G	ENSP00000436450:p.Met172Thr		P59548|Q645X6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.M172T	ENST00000533467.1	37	c.515	CCDS53748.1	12	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.662399	0.00772	.	.	ENSG00000226761	ENST00000533467	T	0.00672	5.89	1.98	-2.4	0.06583	.	.	.	.	.	T	0.00440	0.0014	N	0.11000	0.08	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.43065	-0.9414	9	0.13108	T	0.6	.	2.3941	0.04386	0.3006:0.0:0.2943:0.4051	.	172	P59540	T2R46_HUMAN	T	172	ENSP00000436450:M172T	ENSP00000436450:M172T	M	-	2	0	TAS2R46	11105646	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.368000	0.02580	-0.567000	0.06046	0.163000	0.16589	ATG	TAS2R46	-	pfam_TAS2_rcpt	ENSG00000226761		0.353	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R46	HGNC	protein_coding	OTTHUMT00000383559.1	-	0	64	0	A	NM_176887		11214379	-1	tier1	-	no_errors	ENST00000533467	ensembl	human	known	74_37	missense	48.61	37	35	SNP	0.000	G	G	11214379	A	G	11214379	3	3	124	1	0	0	0	0	1	0	0	0	15629	217	8	4	418	4	TAS2R46	12	11214379	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	6059298	11214379	122637516	88	32212											
PIK3C2G	5288	genome.wustl.edu	37	chr12	18552628	18552628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaagatatttatggttttAtcgcttctactgcaataatg	13	16	7	5	1	1	1	0	0	1	1	2	2	1	1	0	1	2	3	0	1	8	8			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:18552628A>G	ENST00000266497.5	+	14	2077	c.2039A>G	c.(2038-2040)tAt>tGt	p.Y680C	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.Y680C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Y721C			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	680	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)				TTATGGTTTTATCGCTTCTAC	0.378																																																	0													91	90	91					12																	18552628		1819	4080	5899	SO:0001583	missense	0			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.2039A>G	12.37:g.18552628A>G	ENSP00000266497:p.Tyr680Cys		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.Y721C	ENST00000266497.5	37	c.2162	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424825	0.62733	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.65364	-0.15;-0.15;-0.15	4.73	4.73	0.59995	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.187721	0.36628	N	0.002498	T	0.72787	0.3504	L	0.46885	1.475	0.45690	D	0.998604	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.996	T	0.75593	-0.3264	10	0.72032	D	0.01	-22.3563	13.8306	0.63377	1.0:0.0:0.0:0.0	.	720;721;680	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	C	680;680;721	ENSP00000404845:Y680C;ENSP00000266497:Y680C;ENSP00000445381:Y721C	ENSP00000266497:Y680C	Y	+	2	0	PIK3C2G	18443895	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.816000	0.69222	2.114000	0.64651	0.477000	0.44152	TAT	PIK3C2G	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000139144		0.378	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	-	0	56	0	A	NM_004570		18552628	1	tier1	-	no_errors	ENST00000538779	ensembl	human	known	74_37	missense	31.94	49	23	SNP	1.000	G	G	18552628	A	G	18552628	3	3	124	1	0	0	0	0	1	0	0	0	11950	449	16	4	2093	4	PIK3C2G	12	18552628	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	7338249	18552628	115299267	89	32213											
CSRNP2	81566	genome.wustl.edu	37	chr12	51458091	51458091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcctctaggatgcacacaCccaggctctcgatgctcgag	8	8	10	15	2	2	0	0	0	2	0	5	3	3	1	2	2	2	4	2	2	1	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:51458091C>A	ENST00000228515.1	-	5	1367	c.1070G>T	c.(1069-1071)gGt>gTt	p.G357V		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	357					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GATGCACACACCCAGGCTCTC	0.617																																																	0													57	62	60					12																	51458091		2203	4300	6503	SO:0001583	missense	0			AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16006	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 72"		"chromosome 12 open reading frame 22", "family with sequence similarity 130, member A1"	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.1070G>T	12.37:g.51458091C>A	ENSP00000228515:p.Gly357Val			Missense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.G357V	ENST00000228515.1	37	c.1070	CCDS8807.1	12	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002719	0.54254	.	.	ENSG00000110925	ENST00000228515	T	0.44881	0.91	5.08	5.08	0.68730	.	0.225469	0.37715	N	0.001964	T	0.25121	0.0610	N	0.14661	0.345	0.52501	D	0.999958	P	0.42518	0.782	B	0.37304	0.246	T	0.05716	-1.0868	10	0.46703	T	0.11	-23.1638	11.1814	0.48631	0.0:0.9132:0.0:0.0868	.	357	Q9H175	CSRN2_HUMAN	V	357	ENSP00000228515:G357V	ENSP00000228515:G357V	G	-	2	0	CSRNP2	49744358	0.949000	0.32298	0.987000	0.45799	0.925000	0.55904	2.100000	0.41777	2.531000	0.85337	0.484000	0.47621	GGT	CSRNP2	-	NULL	ENSG00000110925		0.617	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP2	HGNC	protein_coding	OTTHUMT00000404893.1	-	0	44	0	C			51458091	-1	tier1	-	no_errors	ENST00000228515	ensembl	human	known	74_37	missense	20.00	32	8	SNP	0.946	A	A	51458091	C	A	51458091	3	1	124	1	0	0	0	0	1	0	0	0	3973	507	18	3	565	3	CSRNP2	12	51458091	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	32905463	51458091	82393804	90	32214											
PFDN5	5204	genome.wustl.edu	37	chr12	53690058	53690058	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcgtcccactgacgagttCtgtatcctttccacaggaac	9	11	7	14	2	1	1	0	1	1	0	5	3	4	2	3	1	1	2	3	1	2	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:53690058C>T	ENST00000551018.1	+	3	483	c.206C>T	c.(205-207)tCt>tTt	p.S69F	PFDN5_ENST00000351500.3_Intron|PFDN5_ENST00000550846.1_Intron|RP11-680A11.5_ENST00000550263.1_RNA|PFDN5_ENST00000334478.4_Splice_Site_p.S69F	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	69					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						CTGACGAGTTCTGTATCCTTT	0.488																																																	0													81	75	77					12																	53690058		2203	4300	6503	SO:0001630	splice_region_variant	0			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"prefoldin 5"			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.207+1C>T	12.37:g.53690058C>T			A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha	p.S69F	ENST00000551018.1	37	c.206	CCDS8853.1	12	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005528	0.93287	.	.	ENSG00000123349	ENST00000551018;ENST00000334478	T;T	0.48201	0.82;0.82	5.32	5.32	0.75619	Prefoldin (1);Prefoldin subunit (1);	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.81050	-0.1108	10	0.56958	D	0.05	.	14.87	0.70450	0.0:1.0:0.0:0.0	.	69	Q99471	PFD5_HUMAN	F	69	ENSP00000447942:S69F;ENSP00000334188:S69F	ENSP00000334188:S69F	S	+	2	0	PFDN5	51976325	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.236000	0.72339	2.675000	0.91044	0.462000	0.41574	TCT	PFDN5	-	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha	ENSG00000123349		0.488	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN5	HGNC	protein_coding	OTTHUMT00000405368.2	-	0	55	0	C		Missense_Mutation	53690058	1	tier1	-	no_errors	ENST00000551018	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	T	T	53690058	C	T	53690058	5	4	124	1	0	0	0	0	0	0	1	0	11797	927	32	3	216	3	PFDN5	12	53690058	Splice_Site	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	2231967	53690058	80161837	91	32215											
FGD6	55785	genome.wustl.edu	37	chr12	95604835	95604835	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttccaggttcaacatGattttccttgatggcgactg	7	14	9	11	1	1	2	1	2	0	0	3	3	3	2	3	2	2	1	3	2	1	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:95604835G>T	ENST00000343958.4	-	2	448	c.225C>A	c.(223-225)atC>atA	p.I75I	FGD6_ENST00000549499.1_Silent_p.I75I|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Silent_p.I75I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	75					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTTCAACATGATTTTCCTTG	0.408																																																	0													224	237	232					12																	95604835		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.225C>A	12.37:g.95604835G>T			Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.I75	ENST00000343958.4	37	c.225	CCDS31878.1	12																																																																																			FGD6	-	NULL	ENSG00000180263		0.408	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	-	0	81	0	G	NM_018351		95604835	-1	tier1	-	no_errors	ENST00000343958	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.000	T	T	95604835	G	T	95604835	2	4	124	1	0	0	0	0	0	0	0	1	5859	1280	45	3		3	FGD6	12	95604835	Silent	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	41914777	95604835	38247060	92	32216											
SLC17A8	246213	genome.wustl.edu	37	chr12	100813894	100813894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ccttgatgaggaagagctgaCatcctaccagaatgaagaga	15	7	11	8	0	0	7	0	4	0	3	1	9	1	8	3	1	2	1	3	1	4	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:100813894C>A	ENST00000323346.5	+	12	2040	c.1727C>A	c.(1726-1728)aCa>aAa	p.T576K	SLC17A8_ENST00000392989.3_Missense_Mutation_p.T526K	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	576					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)	p.T576I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GAAGAGCTGACATCCTACCAG	0.428																																																	1	Substitution - Missense(1)	kidney(1)											78	69	72					12																	100813894		2203	4300	6503	SO:0001583	missense	0			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.1727C>A	12.37:g.100813894C>A	ENSP00000316909:p.Thr576Lys		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T576K	ENST00000323346.5	37	c.1727	CCDS9077.1	12	.	.	.	.	.	.	.	.	.	.	C	0.160	-1.081996	0.01888	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.68181	0.11;-0.31	4.8	2.95	0.34219	.	0.546235	0.20488	N	0.091353	T	0.36386	0.0965	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.004	B;B	0.16289	0.013;0.015	T	0.28073	-1.0055	10	0.05620	T	0.96	.	5.6785	0.17761	0.1561:0.6785:0.0:0.1654	.	576;526	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	K	576;526	ENSP00000316909:T576K;ENSP00000376715:T526K	ENSP00000316909:T576K	T	+	2	0	SLC17A8	99338025	0.000000	0.05858	0.061000	0.19648	0.711000	0.40976	0.062000	0.14389	0.549000	0.28973	0.591000	0.81541	ACA	SLC17A8	-	NULL	ENSG00000179520		0.428	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2		0	44	0	C	NM_139319		100813894	1			no_errors	ENST00000323346	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.012	A	A	100813894	C	A	100813894	3	1	124	1	0	0	0	0	1	0	0	0	14468	478	17	3	1773	3	SLC17A8	12	100813894	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	5209059	100813894	33038001	93	32217											
CMKLR1	1240	genome.wustl.edu	37	chr12	108686629	108686629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accaggaagatcctggtcacCctggcttccaagggggataa	11	7	12	11	0	1	1	1	0	0	1	3	3	3	3	4	5	0	1	4	5	3	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:108686629C>A	ENST00000312143.7	-	3	474	c.111G>T	c.(109-111)agG>agT	p.R37S	CMKLR1_ENST00000412676.1_Missense_Mutation_p.R37S|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R35S|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R35S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R37S	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	37					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCCTGGTCACCCTGGCTTCCA	0.478																																																	0													74	72	72					12																	108686629		1955	4156	6111	SO:0001583	missense	0			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.111G>T	12.37:g.108686629C>A	ENSP00000311733:p.Arg37Ser		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.R37S	ENST00000312143.7	37	c.111	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	C	1.301	-0.604973	0.03717	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.12	2.05	0.26809	.	1.065040	0.07272	N	0.869364	T	0.25644	0.0624	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32428	-0.9907	10	0.08599	T	0.76	.	4.4083	0.11420	0.0:0.4198:0.3315:0.2487	.	37	Q99788	CML1_HUMAN	S	37;37;35;35;37;37;37	ENSP00000311733:R37S;ENSP00000401293:R37S;ENSP00000380803:R35S;ENSP00000447579:R35S;ENSP00000449716:R37S;ENSP00000448925:R37S;ENSP00000448362:R37S	ENSP00000311733:R37S	R	-	3	2	CMKLR1	107210759	0.000000	0.05858	0.014000	0.15608	0.042000	0.13812	-0.642000	0.05427	0.535000	0.28714	0.561000	0.74099	AGG	CMKLR1	-	prints_DEZorph_rcpt	ENSG00000174600		0.478	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	-	0	50	0	C			108686629	-1	tier1	-	no_errors	ENST00000312143	ensembl	human	known	74_37	missense	21.95	32	9	SNP	0.015	A	A	108686629	C	A	108686629	3	1	124	1	0	0	0	0	1	0	0	0	3586	622	22	3	1014	3	CMKLR1	12	108686629	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	7872735	108686629	25165266	94	32218											
DTX1	1840	genome.wustl.edu	37	chr12	113534587	113534587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tatcggcacgtccaacaccaCgggcgagtcggacaccgtgg	9	5	13	14	6	0	0	0	0	0	0	3	2	1	1	3	4	1	1	3	4	2	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:113534587C>T	ENST00000257600.3	+	9	2209	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	569					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						TCCAACACCACGGGCGAGTCG	0.632																																																	0													77	52	61					12																	113534587		2203	4300	6503	SO:0001583	missense	0			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.1706C>T	12.37:g.113534587C>T	ENSP00000257600:p.Thr569Met		O60630|Q9BS04	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.T569M	ENST00000257600.3	37	c.1706	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687862	0.48097	.	.	ENSG00000135144	ENST00000257600	T	0.24908	1.83	4.99	4.09	0.47781	.	0.119737	0.56097	D	0.000031	T	0.61413	0.2345	H	0.94886	3.595	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	T	0.73100	-0.4089	10	0.87932	D	0	-5.0998	13.6044	0.62039	0.1568:0.8432:0.0:0.0	.	569	Q86Y01	DTX1_HUMAN	M	569	ENSP00000257600:T569M	ENSP00000257600:T569M	T	+	2	0	DTX1	112018970	1.000000	0.71417	0.952000	0.39060	0.012000	0.07955	7.757000	0.85209	1.070000	0.40811	-0.314000	0.08810	ACG	DTX1	-	NULL	ENSG00000135144		0.632	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	-	0	91	0	C			113534587	1	tier1	-	no_errors	ENST00000257600	ensembl	human	known	74_37	missense	39.73	44	29	SNP	1.000	T	T	113534587	C	T	113534587	3	4	124	1	0	0	0	0	1	0	0	0	4807	536	19	1	1740	1	DTX1	12	113534587	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	4847958	113534587	20317308	95	32219											
KNTC1	9735	genome.wustl.edu	37	chr12	123036167	123036167	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctcttccaacttaacaGattgagtcggttacttcaca	11	15	5	10	1	2	2	1	1	1	1	5	2	3	2	1	1	3	1	1	1	3	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr12:123036167G>T	ENST00000333479.7	+	16	1373		c.e16-1		KNTC1_ENST00000450485.2_Splice_Site	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1						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)		CAACTTAACAGATTGAGTCGG	0.318																																																	0													122	111	114					12																	123036167		1824	4079	5903	SO:0001630	splice_region_variant	0				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.1197-1G>T	12.37:g.123036167G>T			A7E2C4|B3KSG2	Splice_Site	SNP	-	e15-1	ENST00000333479.7	37	c.1197-1	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429263	0.62844	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7462	0.62876	0.0735:0.0:0.9265:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KNTC1	121602120	1.000000	0.71417	0.992000	0.48379	0.792000	0.44763	8.757000	0.91657	2.608000	0.88229	0.478000	0.44815	.	KNTC1	-	-	ENSG00000184445		0.318	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	-	0	81	0	G		Intron	123036167	1	tier1	-	no_errors	ENST00000333479	ensembl	human	known	74_37	splice_site	7.59	73	6	SNP	1.000	T	T	123036167	G	T	123036167	5	4	124	1	0	0	0	0	0	0	1	0	8455	956	33	3	1254	3	KNTC1	12	123036167	Splice_Site	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	9501580	123036167	10815728	96	32220											
FLT3	2322	genome.wustl.edu	37	chr13	28608041	28608041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacctttcagcattttgacgGcaacctggattgagactcct	9	13	8	11	1	1	2	1	2	0	1	2	4	2	3	3	2	3	2	3	2	2	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr13:28608041G>A	ENST00000241453.7	-	15	2006	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	FLT3_ENST00000537084.1_Missense_Mutation_p.A642V|FLT3_ENST00000380982.4_Missense_Mutation_p.A642V	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	642	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	CATTTTGACGGCAACCTGGAT	0.443			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													249	218	229					13																	28608041		2203	4300	6503	SO:0001583	missense	0			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.1925C>T	13.37:g.28608041G>A	ENSP00000241453:p.Ala642Val		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A642V	ENST00000241453.7	37	c.1925	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867554	0.91587	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.95482	-3.72;-3.72;-3.72	5.71	5.71	0.89125	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	0.000003	D	0.97486	0.9177	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97840	1.0268	10	0.87932	D	0	.	19.8635	0.96793	0.0:0.0:1.0:0.0	.	642;642	P36888-2;P36888	.;FLT3_HUMAN	V	642	ENSP00000241453:A642V;ENSP00000370369:A642V;ENSP00000438139:A642V	ENSP00000241453:A642V	A	-	2	0	FLT3	27506041	1.000000	0.71417	0.925000	0.36789	0.827000	0.46813	9.084000	0.94076	2.700000	0.92200	0.650000	0.86243	GCC	FLT3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000122025		0.443	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2		0	59	0	G			28608041	-1			no_errors	ENST00000380982	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	28608041	G	A	28608041	3	1	124	1	0	0	0	0	1	0	0	0	5964	1203	42	3	1096	3	FLT3	13	28608041	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09		28608041	86561837	97	32221											
C14orf21	161424	genome.wustl.edu	37	chr14	24769638	24769638	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggtgcacaatataatgaAggaagtagagactcaggccc	15	7	12	7	0	1	2	1	1	0	1	1	5	1	3	1	3	1	2	1	3	6	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr14:24769638A>G	ENST00000267425.3	+	2	365	c.272A>G	c.(271-273)aAg>aGg	p.K91R	DHRS1_ENST00000288111.7_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.K91R|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	91							poly(A) RNA binding (GO:0044822)										AATATAATGAAGGAAGTAGAG	0.463																																																	0													71	62	65					14																	24769638		2202	4300	6502	SO:0001583	missense	0				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.272A>G	14.37:g.24769638A>G	ENSP00000267425:p.Lys91Arg		A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.K91R	ENST00000267425.3	37	c.272	CCDS9624.1	14	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056037	0.76074	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.13901	2.55;2.55	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.265343	0.36628	N	0.002487	T	0.24353	0.0590	L	0.51422	1.61	0.31530	N	0.661297	D	0.54964	0.969	P	0.55011	0.766	T	0.07790	-1.0754	10	0.38643	T	0.18	-4.8702	13.9136	0.63883	1.0:0.0:0.0:0.0	.	91	Q86U38	CN021_HUMAN	R	91	ENSP00000267425:K91R;ENSP00000380020:K91R	ENSP00000267425:K91R	K	+	2	0	C14orf21	23839478	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	3.197000	0.51028	2.113000	0.64589	0.533000	0.62120	AAG	NOP9	-	superfamily_ARM-type_fold	ENSG00000196943		0.463	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	-	0	84	0	A			24769638	1	tier1	-	no_errors	ENST00000267425	ensembl	human	known	74_37	missense	43.40	30	23	SNP	0.999	G	G	24769638	A	G	24769638	3	3	124	1	0	0	0	0	1	0	0	0	1774	72	3	4	278	4	C14orf21	14	24769638	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09		24769638	82579902	98	32222											
AKAP6	9472	genome.wustl.edu	37	chr14	33242894	33242894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttgcagtccctctgtcGtgaaatcaagcaacgacgtc	10	11	9	11	3	2	1	1	1	1	0	5	2	3	1	1	0	3	3	1	0	4	2	rs369391066		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr14:33242894G>A	ENST00000280979.4	+	12	3553	c.3383G>A	c.(3382-3384)cGt>cAt	p.R1128H	AKAP6_ENST00000557272.1_Missense_Mutation_p.R1128H	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1128					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.R1128H(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCTCTGTCGTGAAATCAAG	0.448																																					Melanoma(49;821 1200 7288 13647 42351)												2	Substitution - Missense(2)	lung(2)						G	HIS/ARG	0,4406		0,0,2203	129	122	124		3383	1.2	0.4	14		124	2,8598	2.2+/-6.3	0,2,4298	no	missense	AKAP6	NM_004274.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1128/2320	33242894	2,13004	2203	4300	6503	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3383G>A	14.37:g.33242894G>A	ENSP00000280979:p.Arg1128His		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.R1128H	ENST00000280979.4	37	c.3383	CCDS9644.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.880|0.880	-0.729167|-0.729167	0.03135|0.03135	0.0|0.0	2.33E-4|2.33E-4	ENSG00000151320|ENSG00000151320	ENST00000280979;ENST00000557272|ENST00000554740	T;T|.	0.35789|.	1.29;1.29|.	5.28|5.28	1.25|1.25	0.21368|0.21368	.|.	1.216010|.	0.05439|.	N|.	0.547370|.	T|T	0.34193|0.34193	0.0889|0.0889	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.01281|.	0.0|.	T|T	0.25676|0.25676	-1.0125|-1.0125	10|5	0.35671|.	T|.	0.21|.	3.5856|3.5856	7.8217|7.8217	0.29292|0.29292	0.1927:0.3094:0.4979:0.0|0.1927:0.3094:0.4979:0.0	.|.	1128|.	Q13023|.	AKAP6_HUMAN|.	H|M	1128|15	ENSP00000280979:R1128H;ENSP00000451247:R1128H|.	ENSP00000280979:R1128H|.	R|V	+|+	2|1	0|0	AKAP6|AKAP6	32312645|32312645	0.226000|0.226000	0.23696|0.23696	0.422000|0.422000	0.26621|0.26621	0.139000|0.139000	0.21198|0.21198	0.416000|0.416000	0.21198|0.21198	0.297000|0.297000	0.22615|0.22615	-0.216000|-0.216000	0.12614|0.12614	CGT|GTG	AKAP6	-	smart_Spectrin/alpha-actinin	ENSG00000151320		0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2		0	40	0	G	NM_004274		33242894	1			no_errors	ENST00000280979	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.072	A	A	33242894	G	A	33242894	3	1	124	1	0	0	0	0	1	0	0	0	455	1145	40	1	3425	1	AKAP6	14	33242894	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	8473256	33242894	74106646	99	32223											
ANGEL1	23357	genome.wustl.edu	37	chr14	77270134	77270134	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacatgtgctcacctgatCtcttggggtgacaggaggtg	7	11	15	8	0	2	3	1	3	1	0	3	4	2	4	1	4	1	1	1	4	0	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr14:77270134C>A	ENST00000251089.2	-	6	1614	c.1502G>T	c.(1501-1503)aGa>aTa	p.R501I	ANGEL1_ENST00000557179.1_Missense_Mutation_p.R66I	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	501								p.R501I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CTCACCTGATCTCTTGGGGTG	0.517																																																	1	Substitution - Missense(1)	large_intestine(1)											111	113	112					14																	77270134		2203	4300	6503	SO:0001583	missense	0			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1502G>T	14.37:g.77270134C>A	ENSP00000251089:p.Arg501Ile		B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.R501I	ENST00000251089.2	37	c.1502	CCDS9852.1	14	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284643	0.40394	.	.	ENSG00000013523	ENST00000251089;ENST00000557179	T;T	0.48836	1.86;0.8	5.75	3.78	0.43462	Endonuclease/exonuclease/phosphatase (2);	0.257970	0.40385	N	0.001105	T	0.27594	0.0678	N	0.24115	0.695	0.44462	D	0.997393	B	0.06786	0.001	B	0.13407	0.009	T	0.13388	-1.0511	10	0.35671	T	0.21	0.0037	2.6291	0.04939	0.1921:0.5095:0.1859:0.1125	.	501	Q9UNK9	ANGE1_HUMAN	I	501;66	ENSP00000251089:R501I;ENSP00000451534:R66I	ENSP00000251089:R501I	R	-	2	0	ANGEL1	76339887	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.911000	0.28584	1.389000	0.46526	0.655000	0.94253	AGA	ANGEL1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000013523		0.517	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL1	HGNC	protein_coding	OTTHUMT00000413712.2		0	71	0	C	NM_015305		77270134	-1			no_errors	ENST00000251089	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.905	A	A	77270134	C	A	77270134	3	1	124	1	0	0	0	0	1	0	0	0	608	913	32	3	530	3	ANGEL1	14	77270134	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	44027240	77270134	30079406	100	32224											
TJP1	7082	genome.wustl.edu	37	chr15	30001132	30001132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggatagaaagctgcctgaGcagtatcttctcggtttggt	8	12	14	7	1	2	2	0	1	2	1	3	3	2	3	1	4	3	4	1	4	3	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr15:30001132G>T	ENST00000346128.6	-	25	4955	c.4481C>A	c.(4480-4482)gCt>gAt	p.A1494D	TJP1_ENST00000400011.2_Missense_Mutation_p.A1418D|TJP1_ENST00000545208.2_Missense_Mutation_p.A1414D|TJP1_ENST00000356107.6_Missense_Mutation_p.A1494D	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1494					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)		AGCTGCCTGAGCAGTATCTTC	0.443																																					Melanoma(77;681 1843 6309 6570)												0													148	144	145					15																	30001132		1860	4102	5962	SO:0001583	missense	0				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.4481C>A	15.37:g.30001132G>T	ENSP00000281537:p.Ala1494Asp		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.A1494D	ENST00000346128.6	37	c.4481	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450773	0.43531	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.47177	0.85;0.85	5.61	1.35	0.21983	.	0.842078	0.10874	N	0.624567	T	0.32912	0.0845	L	0.29908	0.895	0.48395	D	0.999642	B;B;B;B	0.30146	0.07;0.023;0.021;0.27	B;B;B;B	0.27500	0.043;0.017;0.031;0.08	T	0.16512	-1.0400	10	0.72032	D	0.01	.	6.7397	0.23428	0.5787:0.0:0.4213:0.0	.	1487;1414;1494;1418	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	D	1494;1418;1494;1414;1414	ENSP00000281537:A1494D;ENSP00000382890:A1418D	ENSP00000281537:A1494D	A	-	2	0	TJP1	27788424	0.997000	0.39634	0.079000	0.20413	0.980000	0.70556	2.385000	0.44371	0.451000	0.26802	0.650000	0.86243	GCT	TJP1	-	NULL	ENSG00000104067		0.443	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	-	0	65	0	G	NM_003257		30001132	-1	tier1	-	no_errors	ENST00000346128	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.692	T	T	30001132	G	T	30001132	3	4	124	1	0	0	0	0	1	0	0	0	15976	971	34	3	781	3	TJP1	15	30001132	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09		30001132	72530260	101	32225											
RASGRP1	10125	genome.wustl.edu	37	chr15	38798040	38798040	+	Splice_Site	SNP	C	C	A	0	0	0	1	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	gtcttaatatgaaaaactcaCtggagctctgtggttccttg	10	14	9	8	0	3	1	1	1	2	0	4	2	4	2	1	2	2	2	1	2	4	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr15:38798040C>A	ENST00000310803.5	-	10	1501		c.e10+1		RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000559830.1_Splice_Site|RASGRP1_ENST00000450598.2_Splice_Site|RASGRP1_ENST00000558164.1_Splice_Site|RASGRP1_ENST00000561180.1_Splice_Site|RASGRP1_ENST00000539159.1_Splice_Site	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)						activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GAAAAACTCACTGGAGCTCTG	0.428																																																	0													90	89	89					15																	38798040		1845	4091	5936	SO:0001630	splice_region_variant	0			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1323+1G>T	15.37:g.38798040C>A			Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Splice_Site	SNP	-	e10+1	ENST00000310803.5	37	c.1323+1	CCDS45222.1	15	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159711	0.78226	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.383	0.87409	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASGRP1	36585332	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.320000	0.79064	2.297000	0.77311	0.655000	0.94253	.	RASGRP1	-	-	ENSG00000172575		0.428	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRP1	HGNC	protein_coding	OTTHUMT00000418223.1	-	0	60	0	C	NM_005739	Intron	38798040	-1	tier1	-	no_errors	ENST00000310803	ensembl	human	known	74_37	splice_site	6.35	59	4	SNP	1.000	A	A	38798040	C	A	38798040	5	1	124	1	0	0	0	0	0	0	1	0	13119	579	20	3	1101	3	RASGRP1	15	38798040	Splice_Site	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	8796908	38798040	63733352	102	32226											
MAPKBP1	23005	genome.wustl.edu	37	chr15	42114464	42114464	+	Missense_Mutation	SNP	T	T	C	0	1	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	tcagtgtggatggcatctccTcagaccttgaagagccagct	9	10	11	11	0	3	3	2	1	1	2	4	4	3	4	3	2	2	2	3	2	1	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr15:42114464T>C	ENST00000456763.2	+	27	3287	c.3091T>C	c.(3091-3093)Tca>Cca	p.S1031P	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S1025P|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S908P|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.S1025P|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.S864P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1031										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)		TGGCATCTCCTCAGACCTTGA	0.617																																																	0													48	45	46					15																	42114464		2203	4300	6503	SO:0001583	missense	0			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.3091T>C	15.37:g.42114464T>C	ENSP00000393099:p.Ser1031Pro		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1031P	ENST00000456763.2	37	c.3091	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	.	21.7	4.192477	0.78902	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.52295	0.95;1.0;0.67;1.0;1.06	4.91	4.91	0.64330	.	0.417365	0.26058	N	0.026581	T	0.56834	0.2012	L	0.29908	0.895	0.51233	D	0.999919	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.98;0.987;0.993	D;D;D;P;P;P	0.87578	0.998;0.998;0.997;0.773;0.762;0.854	T	0.59762	-0.7393	10	0.56958	D	0.05	-9.4211	14.3724	0.66849	0.0:0.0:0.0:1.0	.	864;908;864;1025;1031;1025	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	P	1025;908;864;1031;1025	ENSP00000397570:S1025P;ENSP00000221214:S908P;ENSP00000260357:S864P;ENSP00000393099:S1031P;ENSP00000426154:S1025P	ENSP00000221214:S908P	S	+	1	0	MAPKBP1	39901756	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.475000	0.66787	2.072000	0.62099	0.459000	0.35465	TCA	MAPKBP1	-	NULL	ENSG00000137802		0.617	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1		0	86	0	T	NM_014994		42114464	1			no_errors	ENST00000456763	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	C	C	42114464	T	C	42114464	3	2	124	1	0	0	0	0	1	0	0	0	9330	1551	54	4	3193	4	MAPKBP1	15	42114464	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	3316424	42114464	60416928	103	32227											
IGDCC4	57722	genome.wustl.edu	37	chr15	65681218	65681218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtacaggatcagatactccaCgatctccccgttgggctctg	8	10	10	13	2	3	1	1	0	2	1	5	3	4	2	3	2	2	3	3	2	2	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr15:65681218C>T	ENST00000352385.2	-	15	2844	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	879	Fibronectin type-III 5. {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						AGATACTCCACGATCTCCCCG	0.662																																																	0													77	57	64					15																	65681218		2201	4299	6500	SO:0001583	missense	0				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.2635G>A	15.37:g.65681218C>T	ENSP00000319623:p.Val879Met		Q9HCE4	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V879M	ENST00000352385.2	37	c.2635	CCDS10206.1	15	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867012	0.72065	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.58358	0.34	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.245307	0.35555	N	0.003127	T	0.66436	0.2789	L	0.42632	1.34	0.29440	N	0.859238	D	0.76494	0.999	D	0.71656	0.974	T	0.64512	-0.6390	10	0.56958	D	0.05	-19.1984	18.7143	0.91670	0.0:1.0:0.0:0.0	.	879	Q8TDY8	IGDC4_HUMAN	M	879;608	ENSP00000319623:V879M	ENSP00000319623:V879M	V	-	1	0	IGDCC4	63468271	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.029000	0.49712	2.433000	0.82419	0.561000	0.74099	GTG	IGDCC4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000103742		0.662	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	-	0	55	0	C	NM_020962		65681218	-1	tier1	-	no_errors	ENST00000352385	ensembl	human	novel	74_37	missense	35.14	24	13	SNP	1.000	T	T	65681218	C	T	65681218	3	4	124	1	0	0	0	0	1	0	0	0	7596	536	19	1	1141	1	IGDCC4	15	65681218	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	23566754	65681218	36850174	104	32228											
MYO9A	4649	genome.wustl.edu	37	chr15	72192087	72192087	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggataatttttttcctttgTtcttggtaccttttactttc	6	23	5	7	0	1	0	0	0	1	0	3	1	2	1	2	2	2	2	2	2	3	11			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr15:72192087T>C	ENST00000356056.5	-	24	3883	c.3411A>G	c.(3409-3411)gaA>gaG	p.E1137E	MYO9A_ENST00000424560.1_Silent_p.E1137E|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Silent_p.E1118E|MYO9A_ENST00000564571.1_Silent_p.E1137E|MYO9A_ENST00000566885.1_Silent_p.E757E	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1137	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				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						TTTTCCTTTGTTCTTGGTACC	0.373																																																	0													85	81	82					15																	72192087		2199	4297	6496	SO:0001819	synonymous_variant	0			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.3411A>G	15.37:g.72192087T>C			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E1137	ENST00000356056.5	37	c.3411	CCDS10239.1	15																																																																																			MYO9A	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066933		0.373	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	-	0	38	0	T	NM_006901		72192087	-1	tier1	-	no_errors	ENST00000424560	ensembl	human	known	74_37	silent	33.33	18	9	SNP	0.011	C	C	72192087	T	C	72192087	2	2	124	1	0	0	0	0	0	0	0	1	10122	1722	60	4		4	MYO9A	15	72192087	Silent	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	6510869	72192087	30339305	105	32229											
NAT15	79903	genome.wustl.edu	37	chr16	3533571	3533571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctatgtcctctacatcaaCggcggccaccctccctggac	8	8	7	18	2	2	0	1	0	1	0	4	1	4	1	5	3	2	0	5	3	3	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr16:3533571C>T	ENST00000407558.4	+	6	849	c.546C>T	c.(544-546)aaC>aaT	p.N182N	NAA60_ENST00000360862.5_Silent_p.N117N|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000608722.1_Silent_p.N182N|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000610180.1_Silent_p.N182N|NAA60_ENST00000414063.2_Silent_p.N182N|NAA60_ENST00000573580.1_Silent_p.N117N|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000424546.2_Silent_p.N189N|NAA60_ENST00000575076.1_Silent_p.N182N|NAA60_ENST00000608993.1_Silent_p.N117N|NAA60_ENST00000572584.1_Silent_p.N182N|LA16c-306E5.3_ENST00000574423.2_RNA			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	182	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						TCTACATCAACGGCGGCCACC	0.507																																																	0													106	105	105					16																	3533571		1943	4148	6091	SO:0001819	synonymous_variant	0				CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"N(alpha)-acetyltransferase subunits"	25875	protein-coding gene	gene with protein product		614246	"N-acetyltransferase 15 (GCN5-related, putative)"	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.546C>T	16.37:g.3533571C>T			B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.N182	ENST00000407558.4	37	c.546	CCDS45396.1	16																																																																																			NAA60	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000122390		0.507	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NAA60	HGNC	protein_coding	OTTHUMT00000317235.2		0	53	0	C	NM_024845		3533571	1			no_errors	ENST00000407558	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.461	T	T	3533571	C	T	3533571	2	4	124	1	0	0	0	0	0	0	0	1	10214	535	19	1		1	NAT15	16	3533571	Silent	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09		3533571	86821182	106	32230											
ADCY9	115	genome.wustl.edu	37	chr16	4016561	4016561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcttgcttaggagctcgtCaaagtccccgatgagctcgt	7	10	12	12	4	1	1	1	1	0	0	4	3	2	2	2	2	3	4	2	2	2	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr16:4016561C>A	ENST00000294016.3	-	11	3815	c.3277G>T	c.(3277-3279)Gac>Tac	p.D1093Y		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1093	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						AGGAGCTCGTCAAAGTCCCCG	0.592																																																	0													100	98	99					16																	4016561		2197	4300	6497	SO:0001583	missense	0			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.3277G>T	16.37:g.4016561C>A	ENSP00000294016:p.Asp1093Tyr		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D1093Y	ENST00000294016.3	37	c.3277	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171086	0.78452	.	.	ENSG00000162104	ENST00000294016	D	0.84070	-1.8	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95887	0.8661	H	0.99689	4.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97700	1.0184	10	0.87932	D	0	.	19.7885	0.96447	0.0:1.0:0.0:0.0	.	1093	O60503	ADCY9_HUMAN	Y	1093	ENSP00000294016:D1093Y	ENSP00000294016:D1093Y	D	-	1	0	ADCY9	3956562	1.000000	0.71417	0.358000	0.25811	0.869000	0.49853	7.776000	0.85560	2.752000	0.94435	0.655000	0.94253	GAC	ADCY9	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000162104		0.592	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	-	0	66	0	C			4016561	-1	tier1	-	no_errors	ENST00000294016	ensembl	human	known	74_37	missense	24.32	56	18	SNP	1.000	A	A	4016561	C	A	4016561	3	1	124	1	0	0	0	0	1	0	0	0	301	826	29	3	788	3	ADCY9	16	4016561	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	482990	4016561	86338192	107	32231											
VWA3A	146177	genome.wustl.edu	37	chr16	22128487	22128487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactaccactgctacagccCaaagatggaggtaagccctt	12	8	8	13	0	0	1	0	0	0	1	0	2	0	2	3	2	6	2	3	2	5	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr16:22128487C>A	ENST00000389398.5	+	11	1076	c.980C>A	c.(979-981)cCa>cAa	p.P327Q	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	327						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TGCTACAGCCCAAAGATGGAG	0.557																																																	0													139	132	135					16																	22128487		1956	4154	6110	SO:0001583	missense	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.980C>A	16.37:g.22128487C>A	ENSP00000374049:p.Pro327Gln		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.P327Q	ENST00000389398.5	37	c.980	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336811	0.41398	.	.	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.13420	2.59	5.49	1.18	0.20946	.	0.282853	0.26715	N	0.022866	T	0.19208	0.0461	L	0.57536	1.79	0.09310	N	0.999997	D	0.56746	0.977	P	0.53313	0.723	T	0.05616	-1.0874	10	0.62326	D	0.03	.	5.5303	0.16980	0.1363:0.6335:0.0:0.2302	.	327	A6NCI4	VWA3A_HUMAN	Q	227;327	ENSP00000374049:P327Q	ENSP00000308827:P227Q	P	+	2	0	VWA3A	22035988	0.418000	0.25440	0.049000	0.19019	0.575000	0.36095	1.690000	0.37711	0.260000	0.21731	0.655000	0.94253	CCA	VWA3A	-	NULL	ENSG00000175267		0.557	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	-	0	53	0	C			22128487	1	tier1	-	no_errors	ENST00000389398	ensembl	human	known	74_37	missense	37.50	30	18	SNP	0.020	A	A	22128487	C	A	22128487	3	1	124	1	0	0	0	0	1	0	0	0	17289	594	21	3	1022	3	VWA3A	16	22128487	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	18111926	22128487	68226266	108	32232											
MAZ	4150	genome.wustl.edu	37	chr16	29821507	29821507	+	Frame_Shift_Del	DEL	G	G	-																															ggctccctctcgggggcggaGggggtgcctgtgagctctca																										TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr16:29821507delG	ENST00000322945.6	+	5	1554	c.1389delG	c.(1387-1389)gagfs	p.E463fs	AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000563402.1_Frame_Shift_Del_p.G121fs|MAZ_ENST00000566906.2_Frame_Shift_Del_p.G119fs|PRRT2_ENST00000300797.6_5'Flank|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000545521.1_Frame_Shift_Del_p.E440fs|AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000568544.1_Frame_Shift_Del_p.E64fs|MAZ_ENST00000562337.1_Frame_Shift_Del_p.E158fs|AC009133.14_ENST00000563806.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	463					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CGGGGGCGGAGGGGGTGCCTG	0.667																																					Colon(72;875 1167 15364 30899 37091)												0													9	12	11					16																	29821507		1933	4112	6045	SO:0001589	frameshift_variant	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1389delG	16.37:g.29821507delG	ENSP00000313362:p.Glu463fs		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V465fs	ENST00000322945.6	37	c.1389	CCDS42143.1	16																																																																																			MAZ	-	NULL	ENSG00000103495		0.667	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1		0	36	0	G	NM_002383		29821507	1	tier1		no_errors	ENST00000322945	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	1.000	-	-	29821507	G	-	29821507	7	5	124	1	0	1	0	1	0	0	0	0	9378	991	35	0	1614	0	MAZ	16	29821507	Frame_Shift_Del	DEL	G	TCGA-LN-A7HV-01A-21D-A351-09	7693020	29821507	60533246	109	32233											
SRCAP	10847	genome.wustl.edu	37	chr16	30720962	30720962	+	Silent	SNP	A	A	G	1	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	tctcagagcctcaaccagccAttaacctccagcaaagcagg	13	6	7	15	0	2	1	2	0	1	1	4	1	3	1	5	1	6	2	5	1	3	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr16:30720962A>G	ENST00000262518.4	+	7	1147	c.762A>G	c.(760-762)ccA>ccG	p.P254P	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.P254P|SRCAP_ENST00000344771.4_Silent_p.P254P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	254					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)			TCAACCAGCCATTAACCTCCA	0.542																																																	0													104	96	98					16																	30720962		2197	4300	6497	SO:0001819	synonymous_variant	0			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.762A>G	16.37:g.30720962A>G			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P254	ENST00000262518.4	37	c.762	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.542	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	-	0	68	0	A	NM_006662		30720962	1	tier1	-	no_errors	ENST00000262518	ensembl	human	known	74_37	silent	33.33	40	20	SNP	0.000	G	G	30720962	A	G	30720962	2	3	124	1	0	0	0	0	0	0	0	1	15182	204	8	4		4	SRCAP	16	30720962	Silent	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	899455	30720962	59633791	110	32234											
SGSM2	9905	genome.wustl.edu	37	chr17	2266426	2266426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcaaagcgcccagccctgGgggtaggtgccccctcccca	6	5	12	18	1	0	0	0	0	0	0	1	0	1	0	6	3	4	2	6	3	2	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:2266426G>A	ENST00000426855.2	+	6	845	c.670G>A	c.(670-672)Ggg>Agg	p.G224R	SGSM2_ENST00000268989.3_Missense_Mutation_p.G224R|SGSM2_ENST00000574563.1_Missense_Mutation_p.G224R	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	224					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)		CCCAGCCCTGGGGGTAGGTGC	0.657																																																	0													16	17	17					17																	2266426		2198	4298	6496	SO:0001583	missense	0			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.670G>A	17.37:g.2266426G>A	ENSP00000415107:p.Gly224Arg		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Nonsense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.W251*	ENST00000426855.2	37	c.753	CCDS45570.1	17	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408102	0.42715	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.11712	2.75;2.75	5.93	4.97	0.65823	.	0.199661	0.53938	N	0.000057	T	0.20780	0.0500	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.56968	0.978;0.975;0.977	P;P;P	0.58873	0.586;0.839;0.847	T	0.02358	-1.1171	10	0.25106	T	0.35	-17.7376	10.3574	0.43972	0.1478:0.0:0.8522:0.0	.	224;224;224	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	R	224	ENSP00000268989:G224R;ENSP00000415107:G224R	ENSP00000268989:G224R	G	+	1	0	SGSM2	2213176	1.000000	0.71417	0.962000	0.40283	0.027000	0.11550	3.797000	0.55514	1.540000	0.49301	0.650000	0.86243	GGG	SGSM2	-	NULL	ENSG00000141258		0.657	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	-	0	36	0	G	NM_014853		2266426	1	tier1	-	no_errors	ENST00000573062	ensembl	human	known	74_37	nonsense	33.33	14	7	SNP	0.999	A	A	2266426	G	A	2266426	3	1	124	1	0	0	0	0	1	0	0	0	14268	1232	43	3	692	3	SGSM2	17	2266426	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09		2266426	78928784	111	32235											
TP53	7157	genome.wustl.edu	37	chr17	7577106	7577106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtgcgccggtctctcccagGacaggcacaaacacgcacct	9	6	10	16	3	1	0	0	0	1	0	3	1	2	1	3	3	2	2	3	3	1	0	rs17849781		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:7577106G>C	ENST00000269305.4	-	8	1021	c.832C>G	c.(832-834)Cct>Gct	p.P278A	TP53_ENST00000455263.2_Missense_Mutation_p.P278A|TP53_ENST00000445888.2_Missense_Mutation_p.P278A|TP53_ENST00000359597.4_Missense_Mutation_p.P278A|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P278A|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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(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)	TCTCTCCCAGGACAGGCACAA	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"	131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(1)	GRCh37	CM011015|CM052927	TP53	M	rs17849781						72	62	65					17																	7577106		2203	4300	6503	SO:0001583	missense	0	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.832C>G	17.37:g.7577106G>C	ENSP00000269305:p.Pro278Ala		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P278A	ENST00000269305.4	37	c.832	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954842	0.92726	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99880	-7.46;-7.46;-7.46;-7.46;-7.46;-7.46	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99894	0.9949	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.992;1.0;0.991;0.988	D	0.96234	0.9170	10	0.72032	D	0.01	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	rs17849781	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	A	278;278;278;278;278;267;146	ENSP00000352610:P278A;ENSP00000269305:P278A;ENSP00000398846:P278A;ENSP00000391127:P278A;ENSP00000391478:P278A;ENSP00000425104:P146A	ENSP00000269305:P278A	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	39	0	G	NM_000546		7577106	-1	tier1	rs17849781	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	35.00	13	7	SNP	1.000	C	C	7577106	G	C	7577106	3	2	124	1	0	0	0	0	1	0	0	0	16429	1174	41	5	454	5	TP53	17	7577106	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	5310680	7577106	73618104	112	32236											
C17orf59	54785	genome.wustl.edu	37	chr17	8092521	8092521	+	Missense_Mutation	SNP	A	A	G	1	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	tgtacatgcccttgatgctcAtgtccacggcttcacctaag	8	12	8	13	1	2	1	2	1	0	0	3	1	3	1	3	1	3	3	3	1	2	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:8092521A>G	ENST00000389017.4	-	1	1043	c.938T>C	c.(937-939)aTg>aCg	p.M313T	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	313								p.M179T(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6						CTTGATGCTCATGTCCACGGC	0.667																																																	1	Substitution - Missense(1)	large_intestine(1)											77	69	72					17																	8092521		2203	4300	6503	SO:0001583	missense	0			BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.938T>C	17.37:g.8092521A>G	ENSP00000373669:p.Met313Thr		Q53HS4|Q9NXW8	Missense_Mutation	SNP	pfam_DUF2365	p.M313T	ENST00000389017.4	37	c.938	CCDS11133.2	17	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676223	0.67928	.	.	ENSG00000196544	ENST00000389017	.	.	.	5.49	5.49	0.81192	.	0.045949	0.85682	D	0.000000	T	0.63153	0.2487	L	0.36672	1.1	0.52501	D	0.999956	D	0.69078	0.997	D	0.67725	0.953	T	0.59380	-0.7465	9	0.25106	T	0.35	-18.2423	11.972	0.53069	1.0:0.0:0.0:0.0	.	313	Q96GS4	CQ059_HUMAN	T	313	.	ENSP00000373669:M313T	M	-	2	0	C17orf59	8033246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.435000	0.90297	2.086000	0.62901	0.459000	0.35465	ATG	C17orf59	-	pfam_DUF2365	ENSG00000196544		0.667	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf59	HGNC	protein_coding	OTTHUMT00000333072.1		0	49	0	A	NM_017622		8092521	-1			no_errors	ENST00000389017	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	G	G	8092521	A	G	8092521	3	3	124	1	0	0	0	0	1	0	0	0	1873	217	8	4	139	4	C17orf59	17	8092521	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	515415	8092521	73102689	113	32237											
ADORA2B	136	genome.wustl.edu	37	chr17	15878317	15878317	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgcactgagctgatggaCcactcgaggaccaccctcca	10	5	10	16	2	0	2	0	2	0	0	2	5	1	4	4	2	2	2	4	2	0	0			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:15878317C>G	ENST00000304222.2	+	2	992	c.660C>G	c.(658-660)gaC>gaG	p.D220E	ZSWIM7_ENST00000399280.2_5'Flank	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	220					activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	AGCTGATGGACCACTCGAGGA	0.542																																																	0													126	95	106					17																	15878317		2203	4300	6503	SO:0001583	missense	0			M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"GPCR / Class A : Adenosine receptors"	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.660C>G	17.37:g.15878317C>G	ENSP00000304501:p.Asp220Glu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2B_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.D220E	ENST00000304222.2	37	c.660	CCDS11173.1	17	.	.	.	.	.	.	.	.	.	.	C	3.114	-0.182109	0.06340	.	.	ENSG00000170425	ENST00000304222	T	0.36699	1.24	5.79	1.56	0.23342	GPCR, rhodopsin-like superfamily (1);	0.285222	0.38959	N	0.001510	T	0.21062	0.0507	L	0.39633	1.23	0.30114	N	0.806315	B	0.06786	0.001	B	0.08055	0.003	T	0.36744	-0.9735	10	0.02654	T	1	-9.4174	7.3858	0.26882	0.0:0.6755:0.1212:0.2033	.	220	P29275	AA2BR_HUMAN	E	220	ENSP00000304501:D220E	ENSP00000304501:D220E	D	+	3	2	ADORA2B	15819042	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	0.849000	0.27723	0.087000	0.17167	-0.251000	0.11542	GAC	ADORA2B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2B_rcpt	ENSG00000170425		0.542	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2B	HGNC	protein_coding	OTTHUMT00000131032.1	-	0	44	0	C			15878317	1	tier1	-	no_errors	ENST00000304222	ensembl	human	known	74_37	missense	53.85	12	14	SNP	1.000	G	G	15878317	C	G	15878317	3	3	124	1	0	0	0	0	1	0	0	0	328	506	18	5	666	5	ADORA2B	17	15878317	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	7785796	15878317	65316893	114	32238											
SLC46A1	113235	genome.wustl.edu	37	chr17	26729266	26729266	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacactcaccctgctctgtCtctctcaccagcttggagag	7	11	8	15	0	4	2	2	1	3	1	6	3	4	2	2	1	2	2	2	1	0	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:26729266C>G	ENST00000440501.1	-	3	1250	c.1155G>C	c.(1153-1155)gaG>gaC	p.E385D	CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000321666.5_Intron	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)	CCTGCTCTGTCTCTCTCACCA	0.537																																																	0													63	66	65					17																	26729266		1975	4158	6133	SO:0001583	missense	0			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.1155G>C	17.37:g.26729266C>G	ENSP00000395653:p.Glu385Asp		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E385D	ENST00000440501.1	37	c.1155		17	.	.	.	.	.	.	.	.	.	.	C	3.762	-0.049368	0.07407	.	.	ENSG00000076351	ENST00000440501	T	0.58797	0.31	5.67	-2.72	0.05968	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.145560	0.06151	N	0.674073	T	0.33059	0.0850	.	.	.	0.09310	N	0.999999	B	0.27316	0.175	B	0.25506	0.061	T	0.16012	-1.0417	9	0.13853	T	0.58	1.1474	5.6349	0.17532	0.0:0.4478:0.2262:0.326	.	385	Q96NT5	PCFT_HUMAN	D	385	ENSP00000395653:E385D	ENSP00000395653:E385D	E	-	3	2	SLC46A1	23753393	0.028000	0.19301	0.002000	0.10522	0.097000	0.18754	-0.138000	0.10374	-0.393000	0.07739	-0.768000	0.03414	GAG	SLC46A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000076351		0.537	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SLC46A1	HGNC	protein_coding		-	0	63	0	C	NM_080669		26729266	-1	tier1	-	no_errors	ENST00000440501	ensembl	human	known	74_37	missense	69.35	19	43	SNP	0.000	G	G	26729266	C	G	26729266	3	3	124	1	0	0	0	0	1	0	0	0	14689	912	32	5	237	5	SLC46A1	17	26729266	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	10850949	26729266	54465944	115	32239											
ALDOC	230	genome.wustl.edu	37	chr17	26901517	26901517	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtgtggactcaccttctCtgtaacatactgacaacgtt	10	12	8	11	1	2	1	1	1	1	0	3	2	2	2	1	2	3	2	1	2	3	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:26901517C>G	ENST00000226253.4	-	6	1094	c.619G>C	c.(619-621)Gag>Cag	p.E207Q	PIGS_ENST00000543734.1_5'Flank|ALDOC_ENST00000395321.2_Missense_Mutation_p.E207Q|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000308360.7_5'Flank|PIGS_ENST00000395346.2_5'Flank|ALDOC_ENST00000395319.3_Intron	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	207					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|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)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CTCACCTTCTCTGTAACATAC	0.517																																																	0													216	192	200					17																	26901517		2203	4300	6503	SO:0001583	missense	0			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.619G>C	17.37:g.26901517C>G	ENSP00000226253:p.Glu207Gln		B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	pfam_Aldolase_I	p.E207Q	ENST00000226253.4	37	c.619	CCDS11236.1	17	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534158	0.85812	.	.	ENSG00000109107	ENST00000226253;ENST00000395321	D;D	0.87491	-2.26;-2.26	5.9	5.9	0.94986	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.91938	0.7447	M	0.73962	2.25	0.80722	D	1	P	0.51057	0.941	P	0.54238	0.746	D	0.91761	0.5420	10	0.59425	D	0.04	-9.6147	19.8718	0.96853	0.0:1.0:0.0:0.0	.	207	P09972	ALDOC_HUMAN	Q	207	ENSP00000226253:E207Q;ENSP00000378731:E207Q	ENSP00000226253:E207Q	E	-	1	0	ALDOC	23925644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.038000	0.70964	2.808000	0.96608	0.650000	0.86243	GAG	ALDOC	-	pfam_Aldolase_I	ENSG00000109107		0.517	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	-	0	60	0	C			26901517	-1	tier1	-	no_errors	ENST00000226253	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	G	G	26901517	C	G	26901517	3	3	124	1	0	0	0	0	1	0	0	0	509	922	32	5	491	5	ALDOC	17	26901517	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	172251	26901517	54293693	116	32240											
CPD	1362	genome.wustl.edu	37	chr17	28783319	28783319	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttggcatctctttatgcaaAtaatcatccatccatgcaca	12	14	4	11	0	2	0	1	0	1	0	5	0	4	0	2	1	2	3	2	1	3	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:28783319A>G	ENST00000225719.4	+	16	3459	c.3383A>G	c.(3382-3384)aAt>aGt	p.N1128S	CPD_ENST00000584051.1_3'UTR|CPD_ENST00000543464.2_Missense_Mutation_p.N881S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1128	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTTTATGCAAATAATCATCCA	0.363																																																	0													76	69	71					17																	28783319		2203	4300	6503	SO:0001583	missense	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.3383A>G	17.37:g.28783319A>G	ENSP00000225719:p.Asn1128Ser		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.N1128S	ENST00000225719.4	37	c.3383	CCDS11257.1	17	.	.	.	.	.	.	.	.	.	.	A	13.15	2.152029	0.38021	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.03152	4.03;4.03	5.05	3.97	0.46021	Peptidase M14, carboxypeptidase A (2);	0.180038	0.45867	N	0.000325	T	0.02193	0.0068	N	0.13198	0.31	0.43896	D	0.99652	B;B	0.14805	0.0;0.011	B;B	0.19666	0.001;0.026	T	0.36040	-0.9764	10	0.02654	T	1	.	9.9411	0.41580	0.92:0.0:0.08:0.0	.	881;1128	F5GZH6;O75976	.;CBPD_HUMAN	S	1128;881	ENSP00000225719:N1128S;ENSP00000444443:N881S	ENSP00000225719:N1128S	N	+	2	0	CPD	25807445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.348000	0.52209	0.782000	0.33613	0.533000	0.62120	AAT	CPD	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000108582		0.363	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	-	0	53	0	A	NM_001304		28783319	1	tier1	-	no_errors	ENST00000225719	ensembl	human	known	74_37	missense	81.63	9	40	SNP	1.000	G	G	28783319	A	G	28783319	3	3	124	1	0	0	0	0	1	0	0	0	3805	101	4	4	3445	4	CPD	17	28783319	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	1881802	28783319	52411891	117	32241											
SYNRG	11276	genome.wustl.edu	37	chr17	35879084	35879084	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccaggaggctttggttCgacacagttgatccagaagt	10	9	14	8	1	0	2	0	1	0	1	2	5	1	3	2	4	0	3	2	4	1	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:35879084C>A	ENST00000339208.6	-	22	4044	c.3904G>T	c.(3904-3906)Gaa>Taa	p.E1302*	SYNRG_ENST00000345615.4_Nonsense_Mutation_p.E1212*|SYNRG_ENST00000591288.1_Nonsense_Mutation_p.E1096*|SYNRG_ENST00000502449.2_Nonsense_Mutation_p.E1167*|SYNRG_ENST00000394378.2_Nonsense_Mutation_p.E1247*|SYNRG_ENST00000346661.4_Nonsense_Mutation_p.E1290*|SYNRG_ENST00000585472.1_Nonsense_Mutation_p.E1223*	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1302					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						GGCTTTGGTTCGACACAGTTG	0.522																																																	0													208	201	204					17																	35879084		2203	4300	6503	SO:0001587	stop_gained	0			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.3904G>T	17.37:g.35879084C>A	ENSP00000343610:p.Glu1302*		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Nonsense_Mutation	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.E1302*	ENST00000339208.6	37	c.3904	CCDS11321.1	17	.	.	.	.	.	.	.	.	.	.	C	41	8.707576	0.98922	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	.	.	.	5.44	5.44	0.79542	.	0.139503	0.52532	D	0.000074	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-22.7615	14.8289	0.70132	0.0:0.8564:0.1436:0.0	.	.	.	.	X	1302;1096;1290;1212;1247	.	ENSP00000343610:E1096X	E	-	1	0	SYNRG	32953197	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.005000	0.70716	2.573000	0.86826	0.655000	0.94253	GAA	SYNRG	-	NULL	ENSG00000006114		0.522	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2		0	28	0	C	NM_007247		35879084	-1			no_errors	ENST00000339208	ensembl	human	known	74_37	nonsense	10.53	17	2	SNP	1.000	A	A	35879084	C	A	35879084	4	1	124	1	0	0	0	0	0	1	0	0	15507	893	31	2	44	2	SYNRG	17	35879084	Nonsense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	7095765	35879084	45316126	118	32242											
PSMD3	5709	genome.wustl.edu	37	chr17	38151522	38151522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctacaccctaattatccGgctgcggcacaacgtgatta	11	9	8	13	3	0	1	0	1	0	0	1	2	1	1	3	2	3	2	3	2	5	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:38151522G>A	ENST00000264639.4	+	8	1364	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	PSMD3_ENST00000541736.1_Missense_Mutation_p.R259Q	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	397	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of 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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.R397Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CTAATTATCCGGCTGCGGCAC	0.547																																					Ovarian(186;531 2051 6385 19668 48409)												1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											159	154	156					17																	38151522		2203	4300	6503	SO:0001583	missense	0			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"Proteasome (prosome, macropain) subunits"	9560	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 2"	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1190G>A	17.37:g.38151522G>A	ENSP00000264639:p.Arg397Gln		B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.R397Q	ENST00000264639.4	37	c.1190	CCDS11356.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.174538	0.94807	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.29397	1.57;1.57	5.17	4.2	0.49525	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.121321	0.56097	D	0.000026	T	0.54351	0.1853	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59563	-0.7431	10	0.72032	D	0.01	-7.8285	12.9348	0.58307	0.0796:0.0:0.9204:0.0	.	397	O43242	PSMD3_HUMAN	Q	397;384;259	ENSP00000264639:R397Q;ENSP00000442508:R259Q	ENSP00000264639:R397Q	R	+	2	0	PSMD3	35405048	1.000000	0.71417	0.957000	0.39632	0.958000	0.62258	7.641000	0.83368	1.409000	0.46915	0.655000	0.94253	CGG	PSMD3	-	pfam_PCI_dom,smart_PCI_dom	ENSG00000108344		0.547	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD3	HGNC	protein_coding	OTTHUMT00000257018.1	-	0	43	0	G	NM_002809		38151522	1	tier1	-	no_errors	ENST00000264639	ensembl	human	known	74_37	missense	26.32	28	10	SNP	0.999	A	A	38151522	G	A	38151522	3	1	124	1	0	0	0	0	1	0	0	0	12741	1116	39	1	1220	1	PSMD3	17	38151522	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	2272438	38151522	43043688	119	32243											
KRT13	3860	genome.wustl.edu	37	chr17	39659228	39659228	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcatcccggcggttcctCtctgccatggcctcgtactg	4	11	10	16	3	2	0	1	0	1	0	6	0	4	0	4	3	3	3	4	3	1	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:39659228C>T	ENST00000246635.3	-	4	904	c.858G>A	c.(856-858)gaG>gaA	p.E286E	KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Silent_p.E286E|KRT13_ENST00000336861.3_Silent_p.E286E|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	286	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)				GGCGGTTCCTCTCTGCCATGG	0.647																																																	0													175	164	168					17																	39659228		2203	4300	6503	SO:0001819	synonymous_variant	0				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.858G>A	17.37:g.39659228C>T			Q53G54|Q6AZK5|Q8N240	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.E286	ENST00000246635.3	37	c.858	CCDS11396.1	17																																																																																			KRT13	-	pfam_IF,superfamily_Prefoldin	ENSG00000171401		0.647	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT13	HGNC	protein_coding	OTTHUMT00000257297.1	-	0	45	0	C	NM_153490		39659228	-1	tier1	-	no_errors	ENST00000246635	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.816	T	T	39659228	C	T	39659228	2	4	124	1	0	0	0	0	0	0	0	1	8477	912	32	3		3	KRT13	17	39659228	Silent	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	1507706	39659228	41535982	120	32244											
CDK5RAP3	80279	genome.wustl.edu	37	chr17	46054139	46054139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactgactctggcatctctgCcgaggctgctggaatcgact	7	10	12	12	2	2	1	0	1	2	0	4	5	2	2	1	3	2	3	1	3	1	0			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:46054139C>T	ENST00000338399.4	+	9	966	c.860C>T	c.(859-861)gCc>gTc	p.A287V	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.A312V	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	287					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GGCATCTCTGCCGAGGCTGCT	0.522																																																	0													68	67	67					17																	46054139		1935	4149	6084	SO:0001583	missense	0			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.860C>T	17.37:g.46054139C>T	ENSP00000344683:p.Ala287Val		B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	pfam_DUF773	p.A287V	ENST00000338399.4	37	c.860	CCDS42356.1	17	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842489	0.32513	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.37411	1.2;1.2	5.97	5.97	0.96955	.	0.175720	0.49916	D	0.000122	T	0.16938	0.0407	N	0.04787	-0.16	0.40469	D	0.980323	B;B;B;B	0.13145	0.005;0.001;0.007;0.002	B;B;B;B	0.10450	0.004;0.003;0.005;0.004	T	0.20806	-1.0264	10	0.21014	T	0.42	-11.3532	8.1076	0.30896	0.1591:0.7622:0.0:0.0786	.	312;200;287;62	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	V	312;287	ENSP00000438886:A312V;ENSP00000344683:A287V	ENSP00000344683:A287V	A	+	2	0	CDK5RAP3	43409138	0.849000	0.29639	0.942000	0.38095	0.470000	0.32858	1.404000	0.34623	2.831000	0.97527	0.655000	0.94253	GCC	CDK5RAP3	-	pfam_DUF773	ENSG00000108465		0.522	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	HGNC	protein_coding	OTTHUMT00000442913.1		0	66	0	C	NM_176096		46054139	1			no_errors	ENST00000338399	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.817	T	T	46054139	C	T	46054139	3	4	124	1	0	0	0	0	1	0	0	0	3154	739	26	3	894	3	CDK5RAP3	17	46054139	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	6394911	46054139	35141071	121	32245											
MMD	23531	genome.wustl.edu	37	chr17	53471788	53471788	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccgtggccacaaacaggtgCcagatggcgtgggcaaatgg	10	5	16	10	2	0	1	0	0	0	1	0	1	0	1	3	5	2	1	3	5	2	0			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:53471788C>T	ENST00000262065.3	-	7	920	c.624G>A	c.(622-624)tgG>tgA	p.W208*		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	208					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						CAAACAGGTGCCAGATGGCGT	0.488																																																	0													112	103	106					17																	53471788		2203	4300	6503	SO:0001587	stop_gained	0			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.624G>A	17.37:g.53471788C>T	ENSP00000262065:p.Trp208*		B2R6X9|D3DTY6|Q8TAN7	Nonsense_Mutation	SNP	pfam_HlyIII-related,tigrfam_HylIII	p.W208*	ENST00000262065.3	37	c.624	CCDS11586.1	17	.	.	.	.	.	.	.	.	.	.	C	38	6.897798	0.97920	.	.	ENSG00000108960	ENST00000262065	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-44.0008	19.6068	0.95584	0.0:1.0:0.0:0.0	.	.	.	.	X	208	.	ENSP00000262065:W208X	W	-	3	0	MMD	50826787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.876000	0.98609	0.643000	0.83706	TGG	MMD	-	pfam_HlyIII-related,tigrfam_HylIII	ENSG00000108960		0.488	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMD	HGNC	protein_coding	OTTHUMT00000439214.1		0	72	0	C			53471788	-1			no_errors	ENST00000262065	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	1.000	T	T	53471788	C	T	53471788	4	4	124	1	0	0	0	0	0	1	0	0	9681	740	26	3	96	3	MMD	17	53471788	Nonsense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	7417649	53471788	27723422	122	32246											
COG1	9382	genome.wustl.edu	37	chr17	71189323	71189323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctggagcgccaggttcggGccgagatcgagcacaagaag	10	4	17	10	4	0	2	0	0	0	2	2	5	0	3	2	4	2	3	2	4	2	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:71189323G>T	ENST00000299886.4	+	1	195	c.115G>T	c.(115-117)Gcc>Tcc	p.A39S	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	39					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)			CCAGGTTCGGGCCGAGATCGA	0.677																																																	0													27	29	28					17																	71189323		2197	4297	6494	SO:0001583	missense	0				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.115G>T	17.37:g.71189323G>T	ENSP00000299886:p.Ala39Ser		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	NULL	p.A39S	ENST00000299886.4	37	c.115	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633043	0.67015	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.21191	2.02;2.02	3.64	3.64	0.41730	.	0.063646	0.64402	D	0.000006	T	0.24967	0.0606	N	0.24115	0.695	0.58432	D	0.999997	D;P;D	0.58268	0.982;0.93;0.982	P;P;P	0.60236	0.871;0.634;0.871	T	0.02202	-1.1196	10	0.09084	T	0.74	-15.7417	15.8481	0.78907	0.0:0.0:1.0:0.0	.	39;39;39	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	S	39	ENSP00000400111:A39S;ENSP00000299886:A39S	ENSP00000299886:A39S	A	+	1	0	COG1	68700918	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	8.427000	0.90275	2.015000	0.59207	0.484000	0.47621	GCC	COG1	-	NULL	ENSG00000166685		0.677	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	-	0	56	0	G			71189323	1	tier1	-	no_errors	ENST00000299886	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	71189323	G	T	71189323	3	4	124	1	0	0	0	0	1	0	0	0	3664	1203	42	3	117	3	COG1	17	71189323	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	17717535	71189323	10005887	123	32247											
RNF213	57674	genome.wustl.edu	37	chr17	78319356	78319356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaaatccttgccatcgaGatgcggttccggtgtgggat	8	12	12	9	3	0	1	0	0	0	1	3	3	2	2	3	3	2	1	3	3	2	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:78319356G>T	ENST00000582970.1	+	29	7364	c.7221G>T	c.(7219-7221)gaG>gaT	p.E2407D	RNF213_ENST00000508628.2_Missense_Mutation_p.E2456D|RNF213_ENST00000336301.6_Missense_Mutation_p.E480D	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2407					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)			TTGCCATCGAGATGCGGTTCC	0.532																																																	0													81	80	80					17																	78319356		2203	4300	6503	SO:0001583	missense	0			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.7221G>T	17.37:g.78319356G>T	ENSP00000464087:p.Glu2407Asp		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E2407D	ENST00000582970.1	37	c.7221	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	5.246	0.230767	0.09969	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.41758	0.99	5.12	1.4	0.22301	.	0.131122	0.52532	D	0.000075	T	0.30885	0.0779	L	0.48362	1.52	0.27145	N	0.961566	P	0.38078	0.617	B	0.35312	0.2	T	0.12319	-1.0552	10	0.39692	T	0.17	.	8.4736	0.32999	0.4864:0.0:0.5135:0.0	.	480	Q63HN8	RN213_HUMAN	D	2407;2456;480	ENSP00000338218:E480D	ENSP00000338218:E480D	E	+	3	2	RNF213	75933951	1.000000	0.71417	0.997000	0.53966	0.075000	0.17131	1.698000	0.37794	0.198000	0.20407	-0.768000	0.03414	GAG	RNF213	-	superfamily_P-loop_NTPase	ENSG00000173821		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	99	0	G	NM_020914		78319356	1			no_errors	ENST00000582970	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.993	T	T	78319356	G	T	78319356	3	4	124	1	0	0	0	0	1	0	0	0	13522	933	33	3	7650	3	RNF213	17	78319356	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	7130033	78319356	2875854	124	32248											
ZNF750	79755	genome.wustl.edu	37	chr17	80790213	80790213	+	Frame_Shift_Del	DEL	G	G	-																															atacttcatgtgattaaaaaGatgtgacttctcattgcaag																										TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr17:80790213delG	ENST00000269394.3	-	2	951	c.118delC	c.(118-120)cttfs	p.L40fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	40					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGATTAAAAAGATGTGACTTC	0.418																																																	0													110	110	110					17																	80790213		2203	4300	6503	SO:0001589	frameshift_variant	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.118delC	17.37:g.80790213delG	ENSP00000269394:p.Leu40fs		Q9H899	Frame_Shift_Del	DEL	NULL	p.L40fs	ENST00000269394.3	37	c.118	CCDS11819.1	17																																																																																			ZNF750	-	NULL	ENSG00000141579		0.418	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2		0	68	0	G	NM_024702		80790213	-1	tier1		no_errors	ENST00000269394	ensembl	human	known	74_37	frame_shift_del	53.57	26	30	DEL	0.999	-	-	80790213	G	-	80790213	7	5	124	1	0	1	0	1	0	0	0	0	18180	942	33	0	2061	0	ZNF750	17	80790213	Frame_Shift_Del	DEL	G	TCGA-LN-A7HV-01A-21D-A351-09	2470857	80790213	404997	125	32249											
GNAL	2774	genome.wustl.edu	37	chr18	11753862	11753862	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtactataatacctccagTtccgctggccaaccctgaaa	12	9	7	13	1	0	1	0	1	0	0	2	2	2	1	5	1	3	3	5	1	6	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:11753862T>C	ENST00000423027.3	+	4	632	c.311T>C	c.(310-312)gTt>gCt	p.V104A	GNAL_ENST00000334049.6_Missense_Mutation_p.V181A|GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000535121.1_Missense_Mutation_p.V104A|GNAL_ENST00000269162.5_Missense_Mutation_p.V104A			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	104			Missing (in DYT25). {ECO:0000269|PubMed:23222958}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						ATACCTCCAGTTCCGCTGGCC	0.363																																																	0													97	96	96					18																	11753862		2203	4300	6503	SO:0001583	missense	0			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.311T>C	18.37:g.11753862T>C	ENSP00000408489:p.Val104Ala		B7ZA26|Q86XU3	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S	p.V181A	ENST00000423027.3	37	c.542	CCDS11852.1	18	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745540	0.69418	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.69	5.69	0.88448	G protein alpha subunit, helical insertion (2);	0.052237	0.85682	D	0.000000	T	0.59362	0.2188	M	0.81341	2.54	0.80722	D	1	P;P	0.40211	0.549;0.707	P;P	0.49192	0.602;0.571	T	0.64728	-0.6339	10	0.87932	D	0	.	15.955	0.79880	0.0:0.0:0.0:1.0	.	104;181	P38405;Q86XU3	GNAL_HUMAN;.	A	43;181;104;104;104	ENSP00000334051:V181A;ENSP00000439023:V104A;ENSP00000269162:V104A;ENSP00000408489:V104A	ENSP00000269162:V104A	V	+	2	0	GNAL	11743862	1.000000	0.71417	0.963000	0.40424	0.803000	0.45373	5.922000	0.70036	2.181000	0.69327	0.459000	0.35465	GTT	GNAL	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S	ENSG00000141404		0.363	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAL	HGNC	protein_coding	OTTHUMT00000254561.2	-	0	107	0	T	NM_182978, NM_002071		11753862	1	tier1	-	no_errors	ENST00000334049	ensembl	human	known	74_37	missense	8.33	87	8	SNP	1.000	C	C	11753862	T	C	11753862	3	2	124	1	0	0	0	0	1	0	0	0	6533	1725	60	4	705	4	GNAL	18	11753862	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09		11753862	66323386	126	32250											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14852215	14852215	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggagcagaaattatttcaActagaaagcaaaaataggtg	18	9	9	5	0	1	2	1	0	0	2	1	3	1	3	0	2	3	2	0	2	8	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:14852215A>G	ENST00000358984.4	+	36	4095	c.3915A>G	c.(3913-3915)caA>caG	p.Q1305Q		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1305										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AATTATTTCAACTAGAAAGCA	0.348																																																	0													65	51	56					18																	14852215		692	1590	2282	SO:0001819	synonymous_variant	0			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.3915A>G	18.37:g.14852215A>G			B4DGP1|F8WAG3|Q4G175	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q1305	ENST00000358984.4	37	c.3915	CCDS54182.1	18																																																																																			ANKRD30B	-	NULL	ENSG00000180777		0.348	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	76	0	A	NM_001145029		14852215	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	silent	25.00	54	18	SNP	0.828	G	G	14852215	A	G	14852215	2	3	124	1	0	0	0	0	0	0	0	1	659	40	2	4		4	ANKRD30B	18	14852215	Silent	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	3098353	14852215	63225033	127	32251											
DSG2	1829	genome.wustl.edu	37	chr18	29126669	29126669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaccacatcttccaccagagTtaccaagcatagcactgtac	14	8	5	14	0	1	1	0	0	1	1	2	1	2	1	4	0	5	4	4	0	5	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:29126669T>C	ENST00000261590.8	+	15	3529	c.3320T>C	c.(3319-3321)gTt>gCt	p.V1107A	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1107					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)			TCCACCAGAGTTACCAAGCAT	0.448																																																	0													77	75	76					18																	29126669		2044	4197	6241	SO:0001583	missense	0			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.3320T>C	18.37:g.29126669T>C	ENSP00000261590:p.Val1107Ala		Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.V1107A	ENST00000261590.8	37	c.3320	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518728	0.64634	.	.	ENSG00000046604	ENST00000261590	T	0.67171	-0.25	5.23	2.78	0.32641	.	0.483224	0.19242	N	0.119128	T	0.55178	0.1904	L	0.47190	1.495	0.80722	D	1	B	0.27498	0.18	B	0.20577	0.03	T	0.53450	-0.8437	10	0.87932	D	0	.	7.7036	0.28638	0.0:0.0733:0.1409:0.7858	.	1107	Q14126	DSG2_HUMAN	A	1107	ENSP00000261590:V1107A	ENSP00000261590:V1107A	V	+	2	0	DSG2	27380667	0.990000	0.36364	0.787000	0.31911	0.918000	0.54935	2.003000	0.40844	0.514000	0.28300	0.533000	0.62120	GTT	DSG2	-	NULL	ENSG00000046604		0.448	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1	-	0	37	0	T	NM_001943		29126669	1	tier1	-	no_errors	ENST00000261590	ensembl	human	known	74_37	missense	39.02	25	16	SNP	0.995	C	C	29126669	T	C	29126669	3	2	124	1	0	0	0	0	1	0	0	0	4791	1725	60	4	3378	4	DSG2	18	29126669	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	14274454	29126669	48950579	128	32252											
NOL4	8715	genome.wustl.edu	37	chr18	31523144	31523145	+	Splice_Site	INS	-	-	A																															ggaaggaataggtcgagactINSaaaaaaaaaaagagaaaagt																								rs530792420		TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:31523144_31523145insA	ENST00000261592.5	-	9	1726		c.e9-2		NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Splice_Site|NOL4_ENST00000535384.1_Splice_Site|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4							nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.?(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGGTCGAGACTAAAAAAAAAAA	0.406																																																	2	Unknown(2)	ovary(1)|lung(1)																																								SO:0001630	splice_region_variant	0			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1429-2->T	18.37:g.31523155_31523155dupA			B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Splice_Site	INS	-	e9-2	ENST00000261592.5	37	c.1429-3_1429-2	CCDS11907.2	18																																																																																			NOL4	-	-	ENSG00000101746		0.406	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1		0	27	0	-	NM_003787	Intron	31523145	-1	tier1		no_errors	ENST00000261592	ensembl	human	known	74_37	splice_site_ins	13.33	13	2	INS	1.000:1.000	A	A	31523145	-	A	31523144	8	5	124	1	0	1	1	0	0	0	1	0	10563	1536	53	0	501	0	NOL4	18	31523144	Splice_Site	INS	-	TCGA-LN-A7HV-01A-21D-A351-09	2396475	31523144	46554104	129	32253											
TCF4	6925	genome.wustl.edu	37	chr18	52937190	52937190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctgaggagtgtgatggaTagctctatagcaagaagcag	12	9	14	6	0	1	3	0	2	1	1	1	5	1	5	0	2	4	4	0	2	5	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:52937190T>C	ENST00000356073.4	-	11	1405	c.794A>G	c.(793-795)tAt>tGt	p.Y265C	TCF4_ENST00000568740.1_Missense_Mutation_p.Y240C|TCF4_ENST00000564228.1_Missense_Mutation_p.Y194C|TCF4_ENST00000561992.1_Missense_Mutation_p.Y135C|TCF4_ENST00000566279.1_Missense_Mutation_p.Y205C|TCF4_ENST00000564403.2_Missense_Mutation_p.Y271C|TCF4_ENST00000457482.3_Missense_Mutation_p.Y105C|TCF4_ENST00000398339.1_Missense_Mutation_p.Y367C|TCF4_ENST00000537578.1_Missense_Mutation_p.Y241C|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000537856.3_Missense_Mutation_p.Y135C|TCF4_ENST00000566286.1_Missense_Mutation_p.Y263C|TCF4_ENST00000568673.1_Missense_Mutation_p.Y241C|TCF4_ENST00000354452.3_Missense_Mutation_p.Y265C|TCF4_ENST00000570287.2_Missense_Mutation_p.Y105C|TCF4_ENST00000564999.1_Missense_Mutation_p.Y265C|TCF4_ENST00000544241.2_Missense_Mutation_p.Y194C|TCF4_ENST00000570177.2_Missense_Mutation_p.Y135C|TCF4_ENST00000561831.3_Missense_Mutation_p.Y105C|TCF4_ENST00000540999.1_Missense_Mutation_p.Y241C|TCF4_ENST00000543082.1_Missense_Mutation_p.Y223C|TCF4_ENST00000565018.2_Missense_Mutation_p.Y265C|TCF4_ENST00000567880.1_Missense_Mutation_p.Y205C	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	265					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)		GTGTGATGGATAGCTCTATAG	0.393																																																	0													153	136	142					18																	52937190		2203	4300	6503	SO:0001583	missense	0			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.794A>G	18.37:g.52937190T>C	ENSP00000348374:p.Tyr265Cys		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	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Y367C	ENST00000356073.4	37	c.1100	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410869	0.83340	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.76622	0.4013	M	0.77616	2.38	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.99;1.0;0.99;0.996;0.999;0.988;0.99;0.984;0.998;0.999	T	0.79876	-0.1618	10	0.87932	D	0	-11.9257	15.084	0.72135	0.0:0.0:0.0:1.0	.	241;265;241;105;367;265;223;194;105;263	B7Z5M6;G0LNT9;B7Z6Y1;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;.;ITF2_HUMAN;.;.;.;.	C	265;105;265;223;241;241;194;135;367	ENSP00000346440:Y265C;ENSP00000409447:Y105C;ENSP00000348374:Y265C;ENSP00000439656:Y223C;ENSP00000445202:Y241C;ENSP00000440731:Y241C;ENSP00000441562:Y194C;ENSP00000439827:Y135C;ENSP00000381382:Y367C	ENSP00000346440:Y265C	Y	-	2	0	TCF4	51088188	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.606000	0.67641	2.194000	0.70268	0.455000	0.32223	TAT	TCF4	-	NULL	ENSG00000196628		0.393	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	-	0	100	0	T	NM_003199		52937190	-1	tier1	-	no_errors	ENST00000398339	ensembl	human	known	74_37	missense	22.73	68	20	SNP	1.000	C	C	52937190	T	C	52937190	3	2	124	1	0	0	0	0	1	0	0	0	15742	1406	49	4	1257	4	TCF4	18	52937190	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	21414046	52937190	25140058	130	32254											
MALT1	10892	genome.wustl.edu	37	chr18	56411668	56411668	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatgatcatctatacaagtAtagtttacaaaccaccggag	15	11	6	9	1	3	1	2	1	1	0	3	2	3	2	2	1	3	2	2	1	7	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:56411668A>G	ENST00000348428.3	+	15	2110	c.1852A>G	c.(1852-1854)Ata>Gta	p.I618V	MALT1_ENST00000345724.3_Missense_Mutation_p.I607V|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	618					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						CTATACAAGTATAGTTTACAA	0.343			T	BIRC3	MALT																																			Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0													172	164	167					18																	56411668		2203	4299	6502	SO:0001583	missense	0				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.1852A>G	18.37:g.56411668A>G	ENSP00000319279:p.Ile618Val		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_DEATH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Pept_C14_ICE_p20,pfscan_Ig-like_dom	p.I618V	ENST00000348428.3	37	c.1852	CCDS11967.1	18	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261571	0.39995	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.12255	2.71;2.7	5.22	4.05	0.47172	.	0.039248	0.85682	N	0.000000	T	0.23649	0.0572	L	0.47190	1.495	0.51233	D	0.999912	P;P	0.52316	0.952;0.92	P;P	0.59889	0.865;0.736	T	0.00875	-1.1531	10	0.30854	T	0.27	.	10.7705	0.46319	0.9241:0.0:0.0759:0.0	.	607;618	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	V	618;607	ENSP00000319279:I618V;ENSP00000304161:I607V	ENSP00000304161:I607V	I	+	1	0	MALT1	54562648	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.989000	0.63870	0.913000	0.36797	0.482000	0.46254	ATA	MALT1	-	NULL	ENSG00000172175		0.343	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MALT1	HGNC	protein_coding	OTTHUMT00000256132.2	-	0	73	0	A			56411668	1	tier1	-	no_errors	ENST00000348428	ensembl	human	known	74_37	missense	31.51	50	23	SNP	1.000	G	G	56411668	A	G	56411668	3	3	124	1	0	0	0	0	1	0	0	0	9240	449	16	4	1910	4	MALT1	18	56411668	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	3474478	56411668	21665580	131	32255											
CDH7	1005	genome.wustl.edu	37	chr18	63525173	63525173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattcacaatatcacagtcCttgcaatggagagccgtaag	13	10	8	10	1	2	1	2	0	0	1	3	2	3	1	2	1	2	2	2	1	5	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:63525173C>T	ENST00000397968.2	+	8	1783	c.1357C>T	c.(1357-1359)Ctt>Ttt	p.L453F	CDH7_ENST00000323011.3_Missense_Mutation_p.L453F|CDH7_ENST00000536984.2_Missense_Mutation_p.L453F	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	453	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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L453F(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TATCACAGTCCTTGCAATGGA	0.403																																																	2	Substitution - Missense(2)	NS(2)											120	105	110					18																	63525173		2203	4300	6503	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1357C>T	18.37:g.63525173C>T	ENSP00000381058:p.Leu453Phe		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L453F	ENST00000397968.2	37	c.1357	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215939	0.39201	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.62498	0.02;0.02;0.02	4.64	4.64	0.57946	Cadherin (4);Cadherin-like (1);	0.079718	0.51477	D	0.000096	T	0.49440	0.1557	L	0.45051	1.395	0.80722	D	1	B;B	0.19445	0.007;0.036	B;B	0.21917	0.029;0.037	T	0.48658	-0.9016	10	0.36615	T	0.2	.	5.7676	0.18235	0.0:0.7658:0.0:0.2342	.	453;453	F5H5X9;Q9ULB5	.;CADH7_HUMAN	F	453	ENSP00000319166:L453F;ENSP00000443030:L453F;ENSP00000381058:L453F	ENSP00000319166:L453F	L	+	1	0	CDH7	61676153	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	2.373000	0.44266	2.576000	0.86940	0.555000	0.69702	CTT	CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081138		0.403	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	-	0	91	0	C	NM_033646		63525173	1	tier1	-	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	28.28	71	28	SNP	1.000	T	T	63525173	C	T	63525173	3	4	124	1	0	0	0	0	1	0	0	0	3122	681	24	3	1383	3	CDH7	18	63525173	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	7113505	63525173	14552075	132	32256											
ATP9B	374868	genome.wustl.edu	37	chr18	76886355	76886355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagtgaattcacaactatAtagcaagcttacagtaagag	17	9	9	6	0	1	2	1	1	0	1	1	3	1	3	0	1	4	3	0	1	9	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr18:76886355A>G	ENST00000426216.2	+	5	664	c.647A>G	c.(646-648)tAt>tGt	p.Y216C	ATP9B_ENST00000591464.1_3'UTR|ATP9B_ENST00000307671.7_Missense_Mutation_p.Y216C	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	216					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)		TCACAACTATATAGCAAGCTT	0.358																																																	0													148	122	130					18																	76886355		2203	4300	6503	SO:0001583	missense	0			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.647A>G	18.37:g.76886355A>G	ENSP00000398076:p.Tyr216Cys		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.Y216C	ENST00000426216.2	37	c.647	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337026	0.60963	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671	T;T	0.60040	0.22;0.22	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.114937	0.64402	D	0.000009	T	0.61578	0.2358	M	0.75777	2.31	0.80722	D	1	P;P	0.40909	0.732;0.686	B;B	0.40477	0.33;0.222	T	0.68100	-0.5498	10	0.66056	D	0.02	.	15.4048	0.74868	1.0:0.0:0.0:0.0	.	216;216	O43861;O43861-2	ATP9B_HUMAN;.	C	139;216;216	ENSP00000398076:Y216C;ENSP00000304500:Y216C	ENSP00000304500:Y216C	Y	+	2	0	ATP9B	74987343	1.000000	0.71417	0.848000	0.33437	0.586000	0.36452	8.076000	0.89503	2.182000	0.69389	0.482000	0.46254	TAT	ATP9B	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000166377		0.358	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	HGNC	protein_coding	OTTHUMT00000256402.3	-	0	78	0	A	NM_198531		76886355	1	tier1	-	no_errors	ENST00000426216	ensembl	human	known	74_37	missense	30.77	45	20	SNP	1.000	G	G	76886355	A	G	76886355	3	3	124	1	0	0	0	0	1	0	0	0	1200	449	16	4	665	4	ATP9B	18	76886355	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	13361182	76886355	1190893	133	32257											
STK11	6794	genome.wustl.edu	37	chr19	1220644	1220644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccccggctttccagcCgcccgagattgccaacggcc	5	6	12	18	4	0	1	0	0	0	1	2	2	2	1	7	3	3	2	7	3	1	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:1220644C>T	ENST00000326873.7	+	5	1835	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTTCCAGCCGCCCGAGATT	0.706		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	22	Whole gene deletion(20)|Unknown(2)	cervix(14)|lung(4)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											14	19	17					19																	1220644		1946	4126	6072	SO:0001583	missense	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.662C>T	19.37:g.1220644C>T	ENSP00000324856:p.Pro221Leu		B2RBX7|E7EW76	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P221L	ENST00000326873.7	37	c.662	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.364579	0.95877	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.83506	-1.73	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91958	0.7453	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92380	0.5912	10	0.62326	D	0.03	-28.8932	18.5988	0.91240	0.0:1.0:0.0:0.0	.	221	Q15831	STK11_HUMAN	L	221	ENSP00000324856:P221L	ENSP00000324856:P221L	P	+	2	0	STK11	1171644	1.000000	0.71417	0.965000	0.40720	0.668000	0.39293	7.712000	0.84684	2.644000	0.89710	0.561000	0.74099	CCG	STK11	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000118046		0.706	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	-	0	23	0	C	NM_000455		1220644	1	tier1	-	no_errors	ENST00000326873	ensembl	human	known	74_37	missense	38.46	7	5	SNP	1.000	T	T	1220644	C	T	1220644	3	4	124	1	0	0	0	0	1	0	0	0	15334	652	23	1	680	1	STK11	19	1220644	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09		1220644	57908339	134	32258											
ATP8B3	148229	genome.wustl.edu	37	chr19	1785628	1785628	+	Missense_Mutation	SNP	A	A	G	1	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	gggcgatggcttggacgaagAcccagtagttgaagagctcg	10	7	16	8	3	0	3	0	1	0	2	1	6	0	4	1	3	1	4	1	3	3	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:1785628A>G	ENST00000310127.6	-	26	3471	c.3233T>C	c.(3232-3234)gTc>gCc	p.V1078A	ATP8B3_ENST00000525591.1_Missense_Mutation_p.V1041A|ATP8B3_ENST00000539485.1_Missense_Mutation_p.V1088A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1078					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)		TTGGACGAAGACCCAGTAGTT	0.607																																																	0													39	46	44					19																	1785628		2140	4252	6392	SO:0001583	missense	0			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.3233T>C	19.37:g.1785628A>G	ENSP00000311336:p.Val1078Ala		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V1088A	ENST00000310127.6	37	c.3263	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	A	7.106	0.575129	0.13623	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.70164	-0.46;-0.46;-0.46	4.48	4.48	0.54585	.	0.812302	0.11284	N	0.580015	T	0.56108	0.1963	L	0.50847	1.595	0.09310	N	1	P;P	0.46395	0.824;0.877	B;B	0.40741	0.183;0.339	T	0.42103	-0.9471	10	0.10636	T	0.68	.	7.833	0.29353	0.905:0.0:0.095:0.0	.	1078;1041	O60423;Q7Z485	AT8B3_HUMAN;.	A	1078;1088;1041	ENSP00000311336:V1078A;ENSP00000443574:V1088A;ENSP00000437115:V1041A	ENSP00000311336:V1078A	V	-	2	0	ATP8B3	1736628	0.003000	0.15002	0.905000	0.35620	0.810000	0.45777	1.826000	0.39092	1.648000	0.50643	0.533000	0.62120	GTC	ATP8B3	-	NULL	ENSG00000130270		0.607	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	-	0	69	0	A	NM_138813		1785628	-1	tier1	-	no_errors	ENST00000539485	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.067	G	G	1785628	A	G	1785628	3	3	124	1	0	0	0	0	1	0	0	0	1197	275	10	4	685	4	ATP8B3	19	1785628	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	564984	1785628	57343355	135	32259											
TJP3	27134	genome.wustl.edu	37	chr19	3735879	3735879	+	Missense_Mutation	SNP	A	A	G	1	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	cctttcagagttgcccagggAaagcagctatgacatctaca	12	9	9	11	0	2	2	1	1	1	1	2	3	2	3	2	1	4	3	2	1	3	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:3735879A>G	ENST00000541714.2	+	10	1535	c.1073A>G	c.(1072-1074)gAa>gGa	p.E358G	TJP3_ENST00000539908.2_Missense_Mutation_p.E322G|TJP3_ENST00000262968.9_Missense_Mutation_p.E391G|TJP3_ENST00000382008.3_Missense_Mutation_p.E372G|TJP3_ENST00000589378.1_Missense_Mutation_p.E367G|TJP3_ENST00000587686.1_Missense_Mutation_p.E377G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	358					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCCAGGGAAAGCAGCTAT	0.517																																																	0													143	138	140					19																	3735879		2203	4300	6503	SO:0001583	missense	0			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1073A>G	19.37:g.3735879A>G	ENSP00000439278:p.Glu358Gly		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens	p.E391G	ENST00000541714.2	37	c.1172	CCDS32873.2	19	.	.	.	.	.	.	.	.	.	.	A	8.062	0.768422	0.15983	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.08370	3.1;3.25;3.11;3.22	4.32	-6.05	0.02172	.	4.591200	0.00896	N	0.002291	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.10450	0.003;0.005;0.001;0.003	T	0.32955	-0.9887	10	0.41790	T	0.15	.	6.8603	0.24064	0.2252:0.4047:0.3701:0.0	.	377;391;372;358	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	G	358;322;372;391	ENSP00000439278:E358G;ENSP00000439991:E322G;ENSP00000371438:E372G;ENSP00000262968:E391G	ENSP00000262968:E391G	E	+	2	0	TJP3	3686879	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-1.429000	0.02437	-1.903000	0.01093	-0.483000	0.04790	GAA	TJP3	-	NULL	ENSG00000105289		0.517	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP3	HGNC	protein_coding	OTTHUMT00000453434.1		0	71	0	A			3735879	1			no_errors	ENST00000262968	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	G	G	3735879	A	G	3735879	3	3	124	1	0	0	0	0	1	0	0	0	15978	246	9	4	1206	4	TJP3	19	3735879	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	1950251	3735879	55393104	136	32260											
C19orf59	199675	genome.wustl.edu	37	chr19	7742575	7742575	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggccttcaaaaatcaggaCcatgcaaagggtggtcattc	12	10	10	9	0	3	0	3	0	0	0	4	1	3	1	2	4	1	1	2	4	3	3			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:7742575C>G	ENST00000333598.3	+	2	601	c.147C>G	c.(145-147)gaC>gaG	p.D49E	CTD-3214H19.16_ENST00000597959.1_5'Flank|C19orf59_ENST00000597445.1_Intron	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		49						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						AAAATCAGGACCATGCAAAGG	0.572											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89	71	77					19																	7742575		2203	4300	6503	SO:0001583	missense	0																														ENST00000333598.3:c.147C>G	19.37:g.7742575C>G	ENSP00000329920:p.Asp49Glu	644	Q8IX20	Missense_Mutation	SNP	NULL	p.D49E	ENST00000333598.3	37	c.147	CCDS12183.1	19	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422513	0.25639	.	.	ENSG00000183019	ENST00000333598	T	0.25250	1.81	4.21	0.73	0.18271	.	0.778587	0.10936	N	0.617771	T	0.19167	0.0460	L	0.32530	0.975	0.09310	N	1	B	0.31459	0.324	B	0.34722	0.188	T	0.29088	-1.0023	10	0.66056	D	0.02	-6.6757	5.6135	0.17418	0.0:0.4854:0.4029:0.1117	.	49	Q8IX19	MCEM1_HUMAN	E	49	ENSP00000329920:D49E	ENSP00000329920:D49E	D	+	3	2	C19orf59	7648575	0.000000	0.05858	0.003000	0.11579	0.084000	0.17831	-0.354000	0.07681	0.429000	0.26202	0.561000	0.74099	GAC	C19orf59	-	NULL	ENSG00000183019		0.572	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf59	HGNC	protein_coding	OTTHUMT00000461248.1		0	54	0	C			7742575	1			no_errors	ENST00000333598	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.001	G	G	7742575	C	G	7742575	3	3	124	1	0	0	0	0	1	0	0	0	1947	506	18	5	153	5	C19orf59	19	7742575	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	4006696	7742575	51386408	137	32261											
HNRNPM	4670	genome.wustl.edu	37	chr19	8550661	8550661	+	Missense_Mutation	SNP	T	T	G	0	1	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	catgggctccgtggagcgcaTgggctccggcattgagcgca	6	7	16	12	4	0	1	0	1	0	0	2	2	2	2	2	4	2	5	2	4	0	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:8550661T>G	ENST00000325495.4	+	14	1390	c.1349T>G	c.(1348-1350)aTg>aGg	p.M450R	HNRNPM_ENST00000348943.3_Missense_Mutation_p.M411R	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	450	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				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						GTGGAGCGCATGGGCTCCGGC	0.697																																																	0													59	65	63					19																	8550661		2203	4298	6501	SO:0001583	missense	0			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.1349T>G	19.37:g.8550661T>G	ENSP00000325376:p.Met450Arg		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.M450R	ENST00000325495.4	37	c.1349	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	T	15.24	2.775438	0.49786	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.16324	2.35;2.67	5.9	5.9	0.94986	.	0.236233	0.51477	N	0.000087	T	0.24160	0.0585	M	0.72894	2.215	0.51233	D	0.99991	B;P;B;B	0.39282	0.001;0.666;0.0;0.0	B;B;B;B	0.37650	0.001;0.255;0.001;0.0	T	0.02220	-1.1193	10	0.62326	D	0.03	.	15.1472	0.72667	0.0:0.0:0.0:1.0	.	290;450;411;335	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	R	450;411;335;7	ENSP00000325376:M450R;ENSP00000325732:M411R	ENSP00000325376:M450R	M	+	2	0	HNRNPM	8456661	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.615000	0.83006	2.254000	0.74563	0.482000	0.46254	ATG	HNRNPM	-	NULL	ENSG00000099783		0.697	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	-	0	12	0	T			8550661	1	tier1	-	no_errors	ENST00000325495	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	G	G	8550661	T	G	8550661	3	3	124	1	0	0	0	0	1	0	0	0	7298	1464	51	4	1403	4	HNRNPM	19	8550661	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	808086	8550661	50578322	138	32262											
ZNF561	93134	genome.wustl.edu	37	chr19	9721697	9721697	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtggattcccatatgatTatcaaggcttgcaaaatact	13	13	8	7	0	1	1	1	1	0	0	2	2	2	2	1	2	2	2	1	2	6	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:9721697T>A	ENST00000302851.3	-	6	1003	c.640A>T	c.(640-642)Aat>Tat	p.N214Y	ZNF561_ENST00000424629.1_Missense_Mutation_p.N145Y|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.N78Y|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	214					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						CCCATATGATTATCAAGGCTT	0.408																																																	0													61	55	57					19																	9721697		2203	4300	6503	SO:0001583	missense	0			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.640A>T	19.37:g.9721697T>A	ENSP00000303915:p.Asn214Tyr		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N214Y	ENST00000302851.3	37	c.640	CCDS12216.2	19	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464293	0.26335	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661;ENST00000444611	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	1.1	-1.05	0.10036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54175	0.1842	L	0.46157	1.445	0.09310	N	1	D	0.69078	0.997	D	0.83275	0.996	T	0.43196	-0.9406	9	0.54805	T	0.06	.	5.0293	0.14402	0.0:0.6446:0.0:0.3554	.	214	Q8N587	ZN561_HUMAN	Y	145;214;78;220	ENSP00000393074:N145Y;ENSP00000303915:N214Y;ENSP00000346687:N78Y;ENSP00000392013:N220Y	ENSP00000303915:N214Y	N	-	1	0	ZNF561	9582697	0.000000	0.05858	0.000000	0.03702	0.399000	0.30720	-5.026000	0.00158	-0.246000	0.09611	0.248000	0.18094	AAT	ZNF561	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171469		0.408	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF561	HGNC	protein_coding	OTTHUMT00000347272.2	-	0	79	0	T	NM_152289		9721697	-1	tier1	-	no_errors	ENST00000302851	ensembl	human	known	74_37	missense	37.68	43	26	SNP	0.000	A	A	9721697	T	A	9721697	3	1	124	1	0	0	0	0	1	0	0	0	18040	1754	61	5	824	5	ZNF561	19	9721697	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	1171036	9721697	49407286	139	32263											
LDLR	3949	genome.wustl.edu	37	chr19	11222262	11222262	+	Missense_Mutation	SNP	A	A	G	1	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	ggagggtggctacaagtgccAgtgtgaggaaggcttccagc	9	7	17	8	0	0	1	0	1	0	0	1	3	1	3	2	5	3	2	2	5	3	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:11222262A>G	ENST00000558518.1	+	8	1320	c.1133A>G	c.(1132-1134)cAg>cGg	p.Q378R	LDLR_ENST00000558013.1_Missense_Mutation_p.Q378R|LDLR_ENST00000545707.1_Missense_Mutation_p.Q251R|LDLR_ENST00000557933.1_Missense_Mutation_p.Q378R|LDLR_ENST00000535915.1_Missense_Mutation_p.Q337R|LDLR_ENST00000455727.2_Missense_Mutation_p.Q210R	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	378	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	TACAAGTGCCAGTGTGAGGAA	0.632																																					GBM(18;201 575 7820 21545)												1	Unknown(1)	lung(1)	GRCh37	CM983962	LDLR	M							61	58	59					19																	11222262		2203	4300	6503	SO:0001583	missense	0			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.1133A>G	19.37:g.11222262A>G	ENSP00000454071:p.Gln378Arg		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.Q378R	ENST00000558518.1	37	c.1133	CCDS12254.1	19	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551260	0.65311	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.97529	-2.88;-4.42;-4.42	5.56	5.56	0.83823	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.196250	0.33057	N	0.005334	D	0.94608	0.8262	N	0.21545	0.675	0.37268	D	0.907271	B;B;B;B;B;B	0.21520	0.057;0.015;0.028;0.018;0.028;0.016	B;B;B;B;B;B	0.34452	0.054;0.183;0.132;0.132;0.132;0.132	D	0.93896	0.7184	10	0.87932	D	0	.	14.6943	0.69110	1.0:0.0:0.0:0.0	.	210;251;257;337;390;378	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	R	378;251;337;210	ENSP00000437639:Q251R;ENSP00000440520:Q337R;ENSP00000397829:Q210R	ENSP00000252444:Q378R	Q	+	2	0	LDLR	11083262	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	8.628000	0.90979	2.114000	0.64651	0.482000	0.46254	CAG	LDLR	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000130164		0.632	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLR	HGNC	protein_coding	OTTHUMT00000415973.2	-	0	47	0	A			11222262	1	tier1	-	no_errors	ENST00000558518	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	G	G	11222262	A	G	11222262	3	3	124	1	0	0	0	0	1	0	0	0	8732	188	7	4	1163	4	LDLR	19	11222262	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	1500565	11222262	47906721	140	32264											
ADCK4	79934	genome.wustl.edu	37	chr19	41216000	41216000	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctggcatggacttcttagCcatctcggccagtactccta	7	12	8	14	1	2	0	0	0	2	0	5	1	4	1	4	3	2	2	4	3	3	4			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:41216000C>A	ENST00000324464.3	-	5	632	c.331G>T	c.(331-333)Gct>Tct	p.A111S	ADCK4_ENST00000450541.1_Missense_Mutation_p.A111S|RNU6-195P_ENST00000411352.1_RNA|ADCK4_ENST00000243583.6_Missense_Mutation_p.A111S	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	111						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)			GACTTCTTAGCCATCTCGGCC	0.597																																																	0													115	86	96					19																	41216000		2203	4300	6503	SO:0001583	missense	0			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.331G>T	19.37:g.41216000C>A	ENSP00000315118:p.Ala111Ser		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.A111S	ENST00000324464.3	37	c.331	CCDS12562.1	19	.	.	.	.	.	.	.	.	.	.	c	9.211	1.030863	0.19590	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.75821	-0.97;-0.74;-0.74	4.72	2.59	0.31030	.	0.286277	0.38217	N	0.001765	T	0.61837	0.2379	L	0.55743	1.74	0.23791	N	0.996832	B;B	0.28998	0.07;0.23	B;B	0.30716	0.034;0.119	T	0.43343	-0.9397	10	0.10636	T	0.68	-3.8781	5.2231	0.15379	0.2028:0.6908:0.0:0.1064	.	111;111	Q96D53;Q96D53-2	ADCK4_HUMAN;.	S	111	ENSP00000315118:A111S;ENSP00000412839:A111S;ENSP00000243583:A111S	ENSP00000243583:A111S	A	-	1	0	ADCK4	45907840	0.979000	0.34478	0.897000	0.35233	0.042000	0.13812	2.274000	0.43390	0.597000	0.29811	-0.231000	0.12243	GCT	ADCK4	-	NULL	ENSG00000123815		0.597	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADCK4	HGNC	protein_coding	OTTHUMT00000462731.1	-	0	43	0	C	NM_024876		41216000	-1	tier1	-	no_errors	ENST00000324464	ensembl	human	known	74_37	missense	30.23	30	13	SNP	1.000	A	A	41216000	C	A	41216000	3	1	124	1	0	0	0	0	1	0	0	0	290	739	26	3	1347	3	ADCK4	19	41216000	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	29993738	41216000	17912983	141	32265											
CYP2F1	1572	genome.wustl.edu	37	chr19	41626275	41626275	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgccttctccagtggggatCgatggaaggtcctgagacag	8	9	14	10	2	1	1	0	1	1	1	5	5	2	3	3	4	0	0	3	4	1	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:41626275C>T	ENST00000331105.2	+	4	430	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	120					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)	p.R120*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGGGGATCGATGGAAGGT	0.562																																																	1	Substitution - Nonsense(1)	large_intestine(1)											97	92	94					19																	41626275		2203	4300	6503	SO:0001587	stop_gained	0			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.358C>T	19.37:g.41626275C>T	ENSP00000333534:p.Arg120*		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R120*	ENST00000331105.2	37	c.358	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158827	0.38119	.	.	ENSG00000197446	ENST00000331105	.	.	.	4.25	0.388	0.16264	.	0.214943	0.38058	U	0.001821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2291	0.03992	0.3239:0.2949:0.2842:0.0969	.	.	.	.	X	120	.	ENSP00000333534:R120X	R	+	1	2	CYP2F1	46318115	0.000000	0.05858	0.189000	0.23252	0.189000	0.23516	-0.842000	0.04354	0.413000	0.25759	-0.335000	0.08231	CGA	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197446		0.562	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	-	0	71	0	C			41626275	1	tier1	-	no_errors	ENST00000331105	ensembl	human	known	74_37	nonsense	5.62	84	5	SNP	0.000	T	T	41626275	C	T	41626275	4	4	124	1	0	0	0	0	0	1	0	0	4180	876	31	1	368	1	CYP2F1	19	41626275	Nonsense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	410275	41626275	17502708	142	32266											
SULT2A1	6822	genome.wustl.edu	37	chr19	48386900	48386900	+	Silent	SNP	T	T	C	0	1	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	aggtgggaggagaataaacgTggactctccgtttcactgag	11	9	14	7	2	2	2	1	1	1	1	3	5	2	4	1	4	1	1	1	4	3	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:48386900T>C	ENST00000222002.3	-	2	418	c.279A>G	c.(277-279)ccA>ccG	p.P93P		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	93					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	AGAATAAACGTGGACTCTCCG	0.507																																																	0													166	120	136					19																	48386900		2203	4300	6503	SO:0001819	synonymous_variant	0			X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"Sulfotransferases, cytosolic"	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.279A>G	19.37:g.48386900T>C				Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P93	ENST00000222002.3	37	c.279	CCDS12707.1	19																																																																																			SULT2A1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000105398		0.507	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT2A1	HGNC	protein_coding	OTTHUMT00000369044.1	-	0	145	0	T	NM_003167		48386900	-1	tier1	-	no_errors	ENST00000222002	ensembl	human	known	74_37	silent	5.15	129	7	SNP	0.565	C	C	48386900	T	C	48386900	2	2	124	1	0	0	0	0	0	0	0	1	15428	1683	59	4		4	SULT2A1	19	48386900	Silent	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	6760625	48386900	10742083	143	32267											
ZNF17	7565	genome.wustl.edu	37	chr19	57932633	57932633	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaaatgtgggaaatttttTatggacagctccacactcat	13	12	8	8	0	1	0	1	0	0	0	2	2	2	2	1	2	2	2	1	2	3	3	rs61733518	byFrequency	TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:57932633T>A	ENST00000601808.1	+	3	1986	c.1773T>A	c.(1771-1773)ttT>ttA	p.F591L	ZNF17_ENST00000307658.7_Missense_Mutation_p.F593L|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	591					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)		GGAAATTTTTTATGGACAGCT	0.418																																					Melanoma(149;1637 1853 29914 42869 44988)												0													50	53	52					19																	57932633		2129	4277	6406	SO:0001583	missense	0			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.1773T>A	19.37:g.57932633T>A	ENSP00000471905:p.Phe591Leu		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F591L	ENST00000601808.1	37	c.1773	CCDS42636.1	19	.	.	.	.	.	.	.	.	.	.	t	13.54	2.266474	0.40095	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.45	-4.89	0.03103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67795	0.2931	M	0.86343	2.81	0.09310	N	1	D;P	0.89917	1.0;0.947	D;B	0.97110	1.0;0.364	T	0.66555	-0.5894	8	0.87932	D	0	.	11.4985	0.50424	0.0:0.5277:0.0:0.4723	.	593;591	P17021-2;P17021	.;ZNF17_HUMAN	L	591	.	ENSP00000302455:F591L	F	+	3	2	ZNF17	62624445	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-1.398000	0.02509	-2.258000	0.00694	-1.374000	0.01184	TTT	ZNF17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186272		0.418	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1	-	0	83	0	T	NM_006959		57932633	1	tier1	-	no_errors	ENST00000601808	ensembl	human	known	74_37	missense	35.48	40	22	SNP	0.000	A	A	57932633	T	A	57932633	3	1	124	1	0	0	0	0	1	0	0	0	17791	1751	61	5	1783	5	ZNF17	19	57932633	Missense_Mutation	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	9545733	57932633	1196350	144	32268											
RPS5	6193	genome.wustl.edu	37	chr19	58904399	58904399	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcctcacagtgcagggcgGtatgccgccaaacgcttccg	7	7	12	15	4	1	0	1	0	0	0	2	0	2	0	4	2	4	3	4	2	2	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr19:58904399G>T	ENST00000596046.1	+	2	1014	c.165G>T	c.(163-165)cgG>cgT	p.R55R	RPS5_ENST00000601521.1_Silent_p.R55R|RPS5_ENST00000598495.1_Silent_p.R76R|RPS5_ENST00000598098.1_Intron|RPS5_ENST00000196551.3_Silent_p.R55R			P46782	RS5_HUMAN	ribosomal protein S5	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)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GTGCAGGGCGGTATGCCGCCA	0.547																																																	0													52	42	46					19																	58904399		2203	4300	6503	SO:0001819	synonymous_variant	0			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"S ribosomal proteins"	10426	protein-coding gene	gene with protein product	"40S ribosomal protein S5"	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.165G>T	19.37:g.58904399G>T			B2R4T2|Q96BN0	Silent	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.R55	ENST00000596046.1	37	c.165	CCDS12978.1	19																																																																																			RPS5	-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	ENSG00000083845		0.547	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1	-	0	48	0	G	NM_001009		58904399	1	tier1	-	no_errors	ENST00000196551	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.921	T	T	58904399	G	T	58904399	2	4	124	1	0	0	0	0	0	0	0	1	13693	1248	44	3		3	RPS5	19	58904399	Silent	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	971766	58904399	224584	145	32269											
SIRPB1	10326	genome.wustl.edu	37	chr20	1559180	1559180	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtggccttctttctgattGtagattaattcccggcctgc	7	15	9	10	1	2	2	0	1	2	1	3	2	3	2	3	2	1	1	3	2	3	6			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr20:1559180G>T	ENST00000381605.4	-	2	301	c.237C>A	c.(235-237)taC>taA	p.Y79*	SIRPB1_ENST00000381603.3_Nonsense_Mutation_p.Y79*|SIRPB1_ENST00000262929.5_Nonsense_Mutation_p.Y78*|RP4-576H24.4_ENST00000564763.1_Nonsense_Mutation_p.Y79*	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	79	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						CTTTCTGATTGTAGATTAATT	0.517																																																	0													177	157	164					20																	1559180		2196	4245	6441	SO:0001587	stop_gained	0			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.237C>A	20.37:g.1559180G>T	ENSP00000371018:p.Tyr79*		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Nonsense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y79*	ENST00000381605.4	37	c.237	CCDS13019.1	20	.	.	.	.	.	.	.	.	.	.	.	15.67	2.903365	0.52333	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	.	.	.	2.36	1.38	0.22167	.	0.346876	0.24999	N	0.033928	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.232	0.15426	0.1777:0.0:0.8223:0.0	.	.	.	.	X	79;79;78	.	ENSP00000262929:Y78X	Y	-	3	2	SIRPB1	1507180	0.159000	0.22864	0.002000	0.10522	0.000000	0.00434	0.229000	0.17833	0.329000	0.23460	-0.448000	0.05591	TAC	SIRPB1	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000101307		0.517	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2	-	0	118	0	G	NM_006065		1559180	-1	tier1	-	no_errors	ENST00000381605	ensembl	human	known	74_37	nonsense	10.79	124	15	SNP	0.003	T	T	1559180	G	T	1559180	4	4	124	1	0	0	0	0	0	1	0	0	14378	1372	48	3	975	3	SIRPB1	20	1559180	Nonsense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09		1559180	61466340	146	32270											
NECAB3	63941	genome.wustl.edu	37	chr20	32247407	32247407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagcatgggcctggctctgGtggataccaggagggtcctc	6	8	15	12	0	1	0	0	0	1	0	3	2	2	2	4	6	2	2	4	6	1	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr20:32247407G>C	ENST00000246190.6	-	8	830	c.775C>G	c.(775-777)Cca>Gca	p.P259A	NECAB3_ENST00000606525.1_Intron|RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000375238.4_Intron|C20orf144_ENST00000375222.3_5'Flank	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	259					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						CCTGGCTCTGGTGGATACCAG	0.692																																																	0													10	13	12					20																	32247407		1887	4089	5976	SO:0001583	missense	0			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.775C>G	20.37:g.32247407G>C	ENSP00000246190:p.Pro259Ala		A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	pfam_Antibiotic_mOase,pfam_EF_hand_dom,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.P259A	ENST00000246190.6	37	c.775	CCDS42866.1	20	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.286893	0.01387	.	.	ENSG00000125967	ENST00000246190	T	0.14144	2.53	4.15	-0.378	0.12497	.	2.390750	0.01975	N	0.044392	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.30208	-0.9986	9	.	.	.	-5.9231	6.693	0.23183	0.4643:0.0:0.5357:0.0	.	259	Q96P71	NECA3_HUMAN	A	259	ENSP00000246190:P259A	.	P	-	1	0	NECAB3	31711068	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.521000	0.06245	-0.119000	0.11830	0.462000	0.41574	CCA	NECAB3	-	NULL	ENSG00000125967		0.692	NECAB3-010	KNOWN	basic|CCDS	protein_coding	NECAB3	HGNC	protein_coding	OTTHUMT00000078724.2	-	0	117	0	G			32247407	-1	tier1	-	no_errors	ENST00000246190	ensembl	human	known	74_37	missense	31.03	60	27	SNP	0.000	C	C	32247407	G	C	32247407	3	2	124	1	0	0	0	0	1	0	0	0	10345	1261	44	5	435	5	NECAB3	20	32247407	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	30688227	32247407	30778113	147	32271											
RBPJL	11317	genome.wustl.edu	37	chr20	43938331	43938331	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcatacggaaatgagaagCggtaggtgcctccgcagccc	12	6	12	11	3	1	1	1	1	0	1	2	3	2	2	3	3	4	2	3	3	5	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr20:43938331C>T	ENST00000343694.3	+	3	328	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	MATN4_ENST00000342716.4_5'Flank|MATN4_ENST00000360607.6_5'Flank|RBPJL_ENST00000372743.1_Splice_Site_p.R86W|MATN4_ENST00000372751.4_5'Flank|MATN4_ENST00000537548.1_5'Flank|RBPJL_ENST00000372741.3_Splice_Site_p.R86W|MATN4_ENST00000353917.5_5'Flank	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	86					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AAATGAGAAGCGGTAGGTGCC	0.597																																																	0													93	79	84					20																	43938331		2203	4300	6503	SO:0001630	splice_region_variant	0			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.257+1C>T	20.37:g.43938331C>T			O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.R86W	ENST00000343694.3	37	c.256	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534567	0.64972	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	D;D;D	0.94457	-3.43;-3.43;-3.43	5.57	2.12	0.27331	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.122741	0.53938	D	0.000056	D	0.96873	0.8979	M	0.82323	2.585	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	D	0.96931	0.9681	10	0.87932	D	0	-28.0573	13.6407	0.62249	0.5318:0.4681:0.0:0.0	.	86;86	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	W	86	ENSP00000361828:R86W;ENSP00000361826:R86W;ENSP00000341243:R86W	ENSP00000341243:R86W	R	+	1	2	RBPJL	43371745	0.972000	0.33761	1.000000	0.80357	0.681000	0.39784	0.093000	0.15086	0.672000	0.31204	0.462000	0.41574	CGG	RBPJL	-	pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000124232		0.597	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	-	0	73	0	C	NM_014276	Missense_Mutation	43938331	1	tier1	-	no_errors	ENST00000343694	ensembl	human	known	74_37	missense	19.67	49	12	SNP	1.000	T	T	43938331	C	T	43938331	5	4	124	1	0	0	0	0	0	0	1	0	13207	782	27	1	266	1	RBPJL	20	43938331	Splice_Site	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09	11690924	43938331	19087189	148	32272											
DNTTIP1	116092	genome.wustl.edu	37	chr20	44433804	44433804	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgggacccagctcgcctgaAtgaatctaccacctttgtgt	8	11	10	12	1	1	2	0	2	1	0	2	3	1	3	4	1	2	1	4	1	3	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr20:44433804A>G	ENST00000372622.3	+	9	691	c.623A>G	c.(622-624)aAt>aGt	p.N208S		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	208						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GCTCGCCTGAATGAATCTACC	0.468																																																	0													202	208	206					20																	44433804		2203	4300	6503	SO:0001583	missense	0			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.623A>G	20.37:g.44433804A>G	ENSP00000361705:p.Asn208Ser		B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	NULL	p.N208S	ENST00000372622.3	37	c.623	CCDS13369.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.27|11.27	1.589202|1.589202	0.28357|0.28357	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000435014|ENST00000372622	.|T	.|0.42131	.|0.98	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|0.369693	.|0.29473	.|N	.|0.012041	T|T	0.28962|0.28962	0.0719|0.0719	L|L	0.36672|0.36672	1.1|1.1	0.32833|0.32833	D|D	0.504303|0.504303	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.29761|0.29761	-1.0001|-1.0001	5|10	.|0.09590	.|T	.|0.72	-12.3708|-12.3708	10.2173|10.2173	0.43177|0.43177	0.8335:0.1665:0.0:0.0|0.8335:0.1665:0.0:0.0	.|.	.|208	.|Q9H147	.|TDIF1_HUMAN	V|S	135|208	.|ENSP00000361705:N208S	.|ENSP00000361705:N208S	M|N	+|+	1|2	0|0	DNTTIP1|DNTTIP1	43867211|43867211	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.710000|3.710000	0.54860|0.54860	2.031000|2.031000	0.59945|0.59945	0.421000|0.421000	0.28195|0.28195	ATG|AAT	DNTTIP1	-	NULL	ENSG00000101457		0.468	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP1	HGNC	protein_coding	OTTHUMT00000079502.1	-	0	89	0	A	NM_052951		44433804	1	tier1	-	no_errors	ENST00000372622	ensembl	human	known	74_37	missense	32.88	49	24	SNP	1.000	G	G	44433804	A	G	44433804	3	3	124	1	0	0	0	0	1	0	0	0	4695	101	4	4	657	4	DNTTIP1	20	44433804	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	495473	44433804	18591716	149	32273											
ADAMTS5	11096	genome.wustl.edu	37	chr21	28338289	28338289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaaagacagccagagagCggggactaccgtccactgtg	11	5	14	11	2	1	2	1	0	0	2	2	4	2	3	3	3	3	0	3	3	2	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr21:28338289C>T	ENST00000284987.5	-	1	543	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	141					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						AGCCAGAGAGCGGGGACTACC	0.677																																					Esophageal Squamous(53;683 1080 10100 14424 45938)												0													27	25	26					21																	28338289		2203	4300	6503	SO:0001583	missense	0			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.422G>A	21.37:g.28338289C>T	ENSP00000284987:p.Arg141His		Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.R141H	ENST00000284987.5	37	c.422	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320516	0.60634	.	.	ENSG00000154736	ENST00000284987	T	0.05996	3.36	4.57	4.57	0.56435	Peptidase M12B, propeptide (1);	0.156831	0.45126	D	0.000398	T	0.11196	0.0273	L	0.37630	1.12	0.33410	D	0.578469	D	0.59767	0.986	P	0.55667	0.781	T	0.05419	-1.0886	10	0.51188	T	0.08	.	10.785	0.46401	0.0:0.9123:0.0:0.0877	.	141	Q9UNA0	ATS5_HUMAN	H	141	ENSP00000284987:R141H	ENSP00000284987:R141H	R	-	2	0	ADAMTS5	27260160	0.966000	0.33281	0.996000	0.52242	0.754000	0.42855	2.639000	0.46570	2.344000	0.79699	0.563000	0.77884	CGC	ADAMTS5	-	pfam_Peptidase_M12B_N	ENSG00000154736		0.677	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1		0	67	0	C			28338289	-1			no_errors	ENST00000284987	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	28338289	C	T	28338289	3	4	124	1	0	0	0	0	1	0	0	0	269	768	27	1	2402	1	ADAMTS5	21	28338289	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09		28338289	19791606	150	32274											
SMC1B	27127	genome.wustl.edu	37	chr22	45782818	45782818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaaacaagaccatttcCacacacaaactgaatcactt	17	8	2	14	0	2	2	2	1	0	1	3	2	3	2	2	0	2	0	2	0	4	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr22:45782818C>T	ENST00000357450.4	-	11	1839	c.1840G>A	c.(1840-1842)Gga>Aga	p.G614R	SMC1B_ENST00000404354.3_Missense_Mutation_p.G614R	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	614	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)		AGACCATTTCCACACACAAAC	0.398																																																	0													187	174	178					22																	45782818		1911	4128	6039	SO:0001583	missense	0			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.1840G>A	22.37:g.45782818C>T	ENSP00000350036:p.Gly614Arg		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.G614R	ENST00000357450.4	37	c.1840	CCDS43027.1	22	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445427	0.84101	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.88741	-2.42;-2.42	5.32	5.32	0.75619	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.53938	D	0.000052	D	0.94611	0.8263	M	0.81614	2.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.93686	0.7003	10	0.37606	T	0.19	.	18.9977	0.92819	0.0:1.0:0.0:0.0	.	614;614;614	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	R	614	ENSP00000350036:G614R;ENSP00000385902:G614R	ENSP00000350036:G614R	G	-	1	0	SMC1B	44161482	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.840000	0.69402	2.466000	0.83321	0.591000	0.81541	GGA	SMC1B	-	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	ENSG00000077935		0.398	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2	-	0	80	0	C	NM_148674		45782818	-1	tier1	-	no_errors	ENST00000357450	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	45782818	C	T	45782818	3	4	124	1	0	0	0	0	1	0	0	0	14827	603	21	3	1927	3	SMC1B	22	45782818	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09		45782818	5521748	151	32275											
PLXNB2	23654	genome.wustl.edu	37	chr22	50717349	50717349	+	Frame_Shift_Del	DEL	A	A	-																															cacggtacacctggtcaatgAtcttctccttgacctgggag																										TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr22:50717349delA	ENST00000449103.1	-	28	4621	c.4481delT	c.(4480-4482)atcfs	p.I1495fs	PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.I1495fs			O15031	PLXB2_HUMAN	plexin B2	1495					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)		CTGGTCAATGATCTTCTCCTT	0.647																																																	0													101	105	103					22																	50717349		2201	4297	6498	SO:0001589	frameshift_variant	0				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.4481delT	22.37:g.50717349delA	ENSP00000409171:p.Ile1495fs		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.I1494fs	ENST00000449103.1	37	c.4481	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0	44	0	A	NM_012401		50717349	-1	tier1		no_errors	ENST00000359337	ensembl	human	known	74_37	frame_shift_del	23.68	29	9	DEL	1.000	-	-	50717349	A	-	50717349	7	5	124	1	0	1	0	1	0	0	0	0	12163	333	12	0	1075	0	PLXNB2	22	50717349	Frame_Shift_Del	DEL	A	TCGA-LN-A7HV-01A-21D-A351-09	4934531	50717349	587217	152	32276											
ARSA	410	genome.wustl.edu	37	chr22	51065088	51065088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccctatggctgtcatcaggGtccccacagctgcatccagc	7	8	9	17	0	2	0	2	0	0	0	4	0	4	0	5	2	3	3	5	2	1	1			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chr22:51065088G>T	ENST00000547307.1	-	4	1184	c.779C>A	c.(778-780)aCc>aAc	p.T260N	ARSA_ENST00000395619.3_Missense_Mutation_p.T262N|ARSA_ENST00000356098.5_Missense_Mutation_p.T262N|ARSA_ENST00000453344.2_Missense_Mutation_p.T176N|ARSA_ENST00000216124.5_Missense_Mutation_p.T262N|ARSA_ENST00000547805.1_Missense_Mutation_p.T260N|ARSA_ENST00000395621.3_Missense_Mutation_p.T262N			P15289	ARSA_HUMAN	arylsulfatase A	260					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)	TGTCATCAGGGTCCCCACAGC	0.617																																																	0													49	48	49					22																	51065088		2203	4300	6503	SO:0001583	missense	0			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.779C>A	22.37:g.51065088G>T	ENSP00000448440:p.Thr260Asn		B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.T262N	ENST00000547307.1	37	c.785		22	.	.	.	.	.	.	.	.	.	.	G	9.609	1.130728	0.21041	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	5.25	5.25	0.73442	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.523804	0.22451	N	0.059899	D	0.93884	0.8043	N	0.11201	0.11	0.25785	N	0.984688	B	0.06786	0.001	B	0.06405	0.002	D	0.87693	0.2555	10	0.54805	T	0.06	.	11.443	0.50107	0.0:0.0:0.8199:0.1801	.	260	P15289	ARSA_HUMAN	N	262;262;260;260;262;176;262	ENSP00000348406:T262N;ENSP00000216124:T262N;ENSP00000448440:T260N;ENSP00000448932:T260N;ENSP00000378983:T262N;ENSP00000412542:T176N;ENSP00000378981:T262N	ENSP00000216124:T262N	T	-	2	0	ARSA	49411954	0.972000	0.33761	1.000000	0.80357	0.432000	0.31715	2.952000	0.49097	2.469000	0.83416	0.407000	0.27541	ACC	ARSA	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000100299		0.617	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	ARSA	HGNC	protein_coding		-	0	46	0	G	NM_000487		51065088	-1	tier1	-	no_errors	ENST00000216124	ensembl	human	known	74_37	missense	38.46	24	15	SNP	0.999	T	T	51065088	G	T	51065088	3	4	124	1	0	0	0	0	1	0	0	0	988	1261	44	3	764	3	ARSA	22	51065088	Missense_Mutation	SNP	G	TCGA-LN-A7HV-01A-21D-A351-09	347739	51065088	239478	153	32277											
PPEF1	5475	genome.wustl.edu	37	chrX	18845421	18845421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccgtggaagaatttcgtgCcatgtggaaactttttagtt	9	15	10	7	2	0	1	0	0	0	1	2	3	1	3	2	2	2	1	2	2	4	5			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chrX:18845421C>T	ENST00000361511.4	+	19	2272	c.1778C>T	c.(1777-1779)gCc>gTc	p.A593V	PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.A531V|PPEF1_ENST00000359763.6_Missense_Mutation_p.A540V|PPEF1_ENST00000544635.1_Missense_Mutation_p.A528V	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	593	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GAATTTCGTGCCATGTGGAAA	0.413																																																	0													104	96	99					X																	18845421		2203	4300	6503	SO:0001583	missense	0			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1778C>T	X.37:g.18845421C>T	ENSP00000354871:p.Ala593Val		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_PEstase_dom,pfam_EF_hand_dom,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.A593V	ENST00000361511.4	37	c.1778	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729760	0.30684	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635;ENST00000470157	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.5	1.23	0.21249	EF-hand-like domain (1);	1.399950	0.04482	N	0.377888	T	0.55146	0.1902	N	0.19112	0.55	0.09310	N	0.999994	B;P;B	0.36909	0.279;0.573;0.328	B;B;B	0.34590	0.124;0.186;0.178	T	0.47394	-0.9121	10	0.30078	T	0.28	-0.0099	8.1811	0.31311	0.5154:0.3618:0.1229:0.0	.	531;593;565	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	V	593;540;531;528;55	ENSP00000354871:A593V;ENSP00000352806:A540V;ENSP00000341892:A531V;ENSP00000441289:A528V;ENSP00000419273:A55V	ENSP00000341892:A531V	A	+	2	0	PPEF1	18755342	0.974000	0.33945	0.466000	0.27168	0.333000	0.28666	2.457000	0.45005	0.478000	0.27488	0.591000	0.81541	GCC	PPEF1	-	pfam_EF_hand_dom,smart_EF_hand_dom,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom	ENSG00000086717		0.413	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3		0	63	0	C	NM_006240		18845421	1			no_errors	ENST00000361511	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.678	T	T	18845421	C	T	18845421	3	4	124	1	0	0	0	0	1	0	0	0	12346	739	26	3	1840	3	PPEF1	23	18845421	Missense_Mutation	SNP	C	TCGA-LN-A7HV-01A-21D-A351-09		18845421	136425139	154	32278											
PTCHD1	139411	genome.wustl.edu	37	chrX	23397967	23397967	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacagcaaagaccgggtgaAatctgcagaggccatccagc	13	4	12	12	1	1	3	0	1	1	2	2	3	2	3	3	2	3	3	3	2	2	0			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chrX:23397967A>G	ENST00000379361.4	+	2	1471	c.611A>G	c.(610-612)aAa>aGa	p.K204R		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	204					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						GACCGGGTGAAATCTGCAGAG	0.537																																																	0													142	131	134					X																	23397967		2203	4300	6503	SO:0001583	missense	0			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.611A>G	X.37:g.23397967A>G	ENSP00000368666:p.Lys204Arg		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.K204R	ENST00000379361.4	37	c.611	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692504	0.30052	.	.	ENSG00000165186	ENST00000379361	D	0.85629	-2.01	4.86	4.86	0.63082	.	0.053328	0.64402	D	0.000001	T	0.73305	0.3570	N	0.04805	-0.155	0.31558	N	0.657878	B;B	0.26775	0.159;0.003	B;B	0.36666	0.23;0.012	T	0.70568	-0.4836	10	0.16896	T	0.51	.	13.8052	0.63225	1.0:0.0:0.0:0.0	.	99;204	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	R	204	ENSP00000368666:K204R	ENSP00000368666:K204R	K	+	2	0	PTCHD1	23307888	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.573000	0.67417	1.903000	0.55091	0.486000	0.48141	AAA	PTCHD1	-	pfam_Patched	ENSG00000165186		0.537	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	-	0	37	0	A	NM_173495		23397967	1	tier1	-	no_errors	ENST00000379361	ensembl	human	known	74_37	missense	54.05	17	20	SNP	1.000	G	G	23397967	A	G	23397967	3	3	124	1	0	0	0	0	1	0	0	0	12774	14	1	4	617	4	PTCHD1	23	23397967	Missense_Mutation	SNP	A	TCGA-LN-A7HV-01A-21D-A351-09	4552546	23397967	131872593	155	32279											
DDX26B	203522	genome.wustl.edu	37	chrX	134715018	134715018	+	Silent	SNP	T	T	A	0	1	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	cttgaagaagtgcaaggaccTctggagatgaagaaacagtt	15	8	12	6	0	1	5	0	2	1	3	1	7	1	6	1	2	2	2	1	2	5	2			TCGA-LN-A7HV-01A-21D-A351-09	TCGA-LN-A7HV-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c90f51c-714e-4c0d-bbef-373906f7efc6	87f913d2-22dc-4339-b685-5d3f4bb21468	g.chrX:134715018T>A	ENST00000370752.4	+	16	2761	c.2427T>A	c.(2425-2427)ccT>ccA	p.P809P	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	809										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGGACCTCTGGAGATGA	0.303																																																	0													36	34	35					X																	134715018		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2427T>A	X.37:g.134715018T>A			Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	pfscan_VWF_A	p.P809	ENST00000370752.4	37	c.2427	CCDS35401.1	X																																																																																			DDX26B	-	NULL	ENSG00000165359		0.303	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	-	0	149	0	T	NM_182540		134715018	1	tier1	-	no_errors	ENST00000370752	ensembl	human	known	74_37	silent	59.22	42	61	SNP	1.000	A	A	134715018	T	A	134715018	2	1	124	1	0	0	0	0	0	0	0	1	4362	1538	54	5		5	DDX26B	23	134715018	Silent	SNP	T	TCGA-LN-A7HV-01A-21D-A351-09	111317051	134715018	20555542	156	32280											
TMEM52	339456	genome.wustl.edu	37	chr1	1849758	1849758	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacgtcgcagggctgccGtgctggtggcagatgtggct	4	9	17	11	3	0	1	0	0	0	1	1	1	0	1	2	4	3	5	2	4	0	0	rs553521815		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:1849758G>T	ENST00000310991.3	-	4	290	c.283C>A	c.(283-285)Cgg>Agg	p.R95R	TMEM52_ENST00000378602.3_Silent_p.R80R	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	95						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)		CAGGGCTGCCGTGCTGGTGGC	0.637																																																	0													47	49	49					1																	1849758		2203	4297	6500	SO:0001819	synonymous_variant	0			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.283C>A	1.37:g.1849758G>T			Q4VXS6|Q6UX25	Silent	SNP	NULL	p.R95	ENST00000310991.3	37	c.283	CCDS35.1	1																																																																																			TMEM52	-	NULL	ENSG00000178821		0.637	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM52	HGNC	protein_coding	OTTHUMT00000002781.1		0	64	0	G	NM_178545		1849758	-1			no_errors	ENST00000310991	ensembl	human	known	74_37	silent	7.32	38	3	SNP	0.000	T	T	1849758	G	T	1849758	2	4	125	1	0	0	0	0	0	0	0	1	16225	1144	40	2		2	TMEM52	1	1849758	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		1849758	247400863	1	32281											
OMA1	115209	genome.wustl.edu	37	chr1	59004813	59004813	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acactgatttactcccagtcCctgatacttatttactatat	11	16	3	11	0	0	2	0	2	0	0	2	2	2	2	2	0	3	0	2	0	6	8			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:59004813C>A	ENST00000371226.3	-	2	267	c.154G>T	c.(154-156)Gga>Tga	p.G52*	OMA1_ENST00000358603.2_Nonsense_Mutation_p.G52*|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	52					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					ACTCCCAGTCCCTGATACTTA	0.383																																																	0													110	113	112					1																	59004813		2203	4300	6503	SO:0001587	stop_gained	0			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"overlapping activity with M-AAA protease", "zinc metallopeptidase OMA1"		"OMA1 zinc metallopeptidase homolog (S. cerevisiae)"			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.154G>T	1.37:g.59004813C>A	ENSP00000360270:p.Gly52*		D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Nonsense_Mutation	SNP	pfam_Peptidase_M48	p.G52*	ENST00000371226.3	37	c.154	CCDS608.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048729	0.75846	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	.	.	.	5.21	2.27	0.28462	.	0.483919	0.19585	N	0.110755	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.8859	3.1132	0.06365	0.2032:0.538:0.0:0.2588	.	.	.	.	X	52	.	.	G	-	1	0	OMA1	58777401	0.000000	0.05858	0.010000	0.14722	0.330000	0.28571	0.244000	0.18124	0.856000	0.35383	0.655000	0.94253	GGA	OMA1	-	NULL	ENSG00000162600		0.383	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMA1	HGNC	protein_coding	OTTHUMT00000027819.1	-	0	48	0	C	NM_145243		59004813	-1	tier1	-	no_errors	ENST00000371226	ensembl	human	known	74_37	nonsense	77.50	9	31	SNP	0.044	A	A	59004813	C	A	59004813	4	1	125	1	0	0	0	0	0	1	0	0	10903	632	22	3	1452	3	OMA1	1	59004813	Nonsense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	57155055	59004813	190245808	2	32282											
PKN2	5586	genome.wustl.edu	37	chr1	89250469	89250469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacgagtaaaagtaaaagcgGaagtagtcgaaatcttctaa	19	8	9	5	3	2	0	0	0	2	0	3	3	2	1	0	1	2	3	0	1	9	5			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:89250469G>A	ENST00000370521.3	+	7	1492	c.1133G>A	c.(1132-1134)gGa>gAa	p.G378E	PKN2_ENST00000316005.7_Missense_Mutation_p.G378E|PKN2_ENST00000370513.5_Missense_Mutation_p.G378E|PKN2_ENST00000370505.3_Missense_Mutation_p.G221E|PKN2_ENST00000544045.1_Missense_Mutation_p.G52E	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	378	C2.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGTAAAAGCGGAAGTAGTCGA	0.393																																																	0													101	99	99					1																	89250469		1871	4100	5971	SO:0001583	missense	0			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1133G>A	1.37:g.89250469G>A	ENSP00000359552:p.Gly378Glu		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.G378E	ENST00000370521.3	37	c.1133	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500621	0.44455	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T;T	0.20738	2.06;2.06;2.06;2.05;2.05	5.57	5.57	0.84162	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.44483	U	0.000454	T	0.14399	0.0348	M	0.64404	1.975	0.48288	D	0.999628	B;B;B	0.32245	0.017;0.1;0.361	B;B;B	0.27500	0.017;0.03;0.08	T	0.01528	-1.1332	10	0.52906	T	0.07	.	16.1966	0.82029	0.0:0.133:0.867:0.0	.	378;378;378	E7ESL7;Q16513;B1AL79	.;PKN2_HUMAN;.	E	378;378;221;378;52	ENSP00000359552:G378E;ENSP00000317851:G378E;ENSP00000359536:G221E;ENSP00000359544:G378E;ENSP00000439643:G52E	ENSP00000317851:G378E	G	+	2	0	PKN2	89023057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.929000	0.56514	2.785000	0.95823	0.591000	0.81541	GGA	PKN2	-	superfamily_C2_dom,smart_C2_dom	ENSG00000065243		0.393	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	-	0	104	0	G	NM_006256		89250469	1	tier1	-	no_errors	ENST00000370521	ensembl	human	known	74_37	missense	11.27	63	8	SNP	1.000	A	A	89250469	G	A	89250469	3	1	125	1	0	0	0	0	1	0	0	0	12019	1174	41	3	1159	3	PKN2	1	89250469	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	30245656	89250469	160000152	3	32283											
CNN3	1266	genome.wustl.edu	37	chr1	95367275	95367275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattttccttcatcaaaacGtcttgtttgtttttctgcat	8	21	4	8	1	4	0	2	0	2	0	5	0	5	0	1	0	2	3	1	0	3	8			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:95367275G>A	ENST00000370206.4	-	5	834	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	CNN3_ENST00000394202.4_Missense_Mutation_p.R105C|CNN3_ENST00000545882.1_Missense_Mutation_p.R110C|CNN3_ENST00000538964.1_Missense_Mutation_p.R151C|CNN3_ENST00000487539.1_5'UTR	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	151					actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TCATCAAAACGTCTTGTTTGT	0.343																																																	0													132	114	120					1																	95367275		2203	4300	6503	SO:0001583	missense	0			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.451C>T	1.37:g.95367275G>A	ENSP00000359225:p.Arg151Cys		B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.R151C	ENST00000370206.4	37	c.451	CCDS30775.1	1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504056	0.44558	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202;ENST00000545882;ENST00000415017	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.94;0.94	5.63	5.63	0.86233	Calponin homology domain (2);	0.235841	0.45867	D	0.000333	T	0.32852	0.0843	L	0.27053	0.805	0.46901	D	0.999243	B;B	0.11235	0.004;0.0	B;B	0.12837	0.008;0.0	T	0.23976	-1.0173	10	0.62326	D	0.03	-3.9327	14.4083	0.67099	0.0:0.0:0.8167:0.1833	.	105;151	F8WA86;Q15417	.;CNN3_HUMAN	C	151;151;105;110;110	ENSP00000359225:R151C;ENSP00000437665:R151C;ENSP00000377752:R105C;ENSP00000440081:R110C;ENSP00000401452:R110C	ENSP00000359225:R151C	R	-	1	0	CNN3	95139863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.049000	0.57397	2.633000	0.89246	0.650000	0.86243	CGT	CNN3	-	superfamily_CH-domain	ENSG00000117519		0.343	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN3	HGNC	protein_coding	OTTHUMT00000029702.2		0	66	0	G	NM_001839		95367275	-1			no_errors	ENST00000370206	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	95367275	G	A	95367275	3	1	125	1	0	0	0	0	1	0	0	0	3618	1145	40	1	550	1	CNN3	1	95367275	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	6116806	95367275	153883346	4	32284											
CELSR2	1952	genome.wustl.edu	37	chr1	109793875	109793875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctttctgtggaggatGacaatgataatgccccccag	9	13	9	10	0	1	2	0	2	1	0	2	4	2	4	4	2	1	0	4	2	2	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:109793875G>T	ENST00000271332.3	+	1	1235	c.1174G>T	c.(1174-1176)Gac>Tac	p.D392Y		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	392	Cadherin 2. {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)		TGTGGAGGATGACAATGATAA	0.582																																					NSCLC(158;1285 2011 34800 34852 42084)												0													70	77	74					1																	109793875		2203	4300	6503	SO:0001583	missense	0			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.1174G>T	1.37:g.109793875G>T	ENSP00000271332:p.Asp392Tyr		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.D392Y	ENST00000271332.3	37	c.1174	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	22.0	4.225134	0.79576	.	.	ENSG00000143126	ENST00000271332	T	0.01767	4.65	4.99	4.99	0.66335	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.03608	0.0103	L	0.45422	1.42	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.65857	-0.6066	9	0.30078	T	0.28	.	18.5303	0.90989	0.0:0.0:1.0:0.0	.	392	Q9HCU4	CELR2_HUMAN	Y	392	ENSP00000271332:D392Y	ENSP00000271332:D392Y	D	+	1	0	CELSR2	109595398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.626000	0.88956	0.555000	0.69702	GAC	CELSR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000143126		0.582	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0	100	0	G	NM_001408		109793875	1			no_errors	ENST00000271332	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	109793875	G	T	109793875	3	4	125	1	0	0	0	0	1	0	0	0	3229	1290	45	3	1176	3	CELSR2	1	109793875	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	14426600	109793875	139456746	5	32285											
VANGL2	57216	genome.wustl.edu	37	chr1	160389226	160389226	+	Silent	SNP	G	G	A	0	0	1	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	cgcatcctggatgctcgggaGcgcagctaccagggcgtggt	6	7	16	12	4	0	0	0	0	0	0	2	2	1	2	2	4	4	4	2	4	1	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:160389226G>A	ENST00000368061.2	+	4	1101	c.627G>A	c.(625-627)gaG>gaA	p.E209E		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	209					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCTCGGGAGCGCAGCTACC	0.632																																																	0													131	116	121					1																	160389226		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.627G>A	1.37:g.160389226G>A			D3DVE9|Q5T212	Silent	SNP	pfam_Strabismus,pirsf_Strabismus	p.E209	ENST00000368061.2	37	c.627	CCDS30915.1	1																																																																																			VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.632	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	-	0	38	0	G	NM_020335		160389226	1	tier1	-	no_errors	ENST00000368061	ensembl	human	known	74_37	silent	27.12	43	16	SNP	0.995	A	A	160389226	G	A	160389226	2	1	125	1	0	0	0	0	0	0	0	1	17169	962	34	3		3	VANGL2	1	160389226	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	50595351	160389226	88861395	6	32286											
LGR6	59352	genome.wustl.edu	37	chr1	202245493	202245493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagctttgaggggctgtcctCcctccgccacctctggctgg	3	10	13	15	1	1	1	0	1	1	0	4	2	4	1	5	4	1	3	5	4	0	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:202245493C>T	ENST00000367278.3	+	5	577	c.488C>T	c.(487-489)tCc>tTc	p.S163F	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.S111F	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	163					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGCTGTCCTCCCTCCGCCAC	0.632																																																	0													75	66	69					1																	202245493		2203	4300	6503	SO:0001583	missense	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.488C>T	1.37:g.202245493C>T	ENSP00000356247:p.Ser163Phe		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.S163F	ENST00000367278.3	37	c.488	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519624	0.64634	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542	T;T;T	0.60171	0.21;0.21;1.63	5.07	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.76575	0.952;0.988	T	0.79293	-0.1863	10	0.56958	D	0.05	.	15.5856	0.76479	0.0:0.8617:0.1383:0.0	.	111;163	Q9HBX8-2;Q9HBX8	.;LGR6_HUMAN	F	163;111;89;89	ENSP00000356247:S163F;ENSP00000255432:S111F;ENSP00000402284:S89F	ENSP00000255432:S111F	S	+	2	0	LGR6	200512116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.710000	0.61873	1.333000	0.45449	0.637000	0.83480	TCC	LGR6	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000133067		0.632	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	-	0	32	0	C	NM_021636		202245493	1	tier1	-	no_errors	ENST00000367278	ensembl	human	known	74_37	missense	28.57	45	18	SNP	1.000	T	T	202245493	C	T	202245493	3	4	125	1	0	0	0	0	1	0	0	0	8787	855	30	3	653	3	LGR6	1	202245493	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	41856267	202245493	47005128	7	32287											
YOD1	55432	genome.wustl.edu	37	chr1	207222508	207222510	+	In_Frame_Del	DEL	CTG	CTG	-																															tctccttcttctagcttcatCtgctaattccagtgcttgta																										TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:207222508_207222510delCTG	ENST00000315927.4	-	2	948_950	c.902_904delCAG	c.(901-906)gcagat>gat	p.A301del	PFKFB2_ENST00000411990.2_5'Flank|YOD1_ENST00000367084.1_In_Frame_Del_p.A257del|YOD1_ENST00000391927.1_In_Frame_Del_p.A257del	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	301					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)					CTAGCTTCATCTGCTAATTCCAG	0.433																																																	0																																										SO:0001651	inframe_deletion	0				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.902_904delCAG	1.37:g.207222508_207222510delCTG	ENSP00000326813:p.Ala301del		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	In_Frame_Del	DEL	pfam_OTU,pfscan_OTU	p.A301in_frame_del	ENST00000315927.4	37	c.904_902	CCDS31002.1	1																																																																																			YOD1	-	NULL	ENSG00000180667		0.433	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	YOD1	HGNC	protein_coding	OTTHUMT00000087837.1		0	53	0	CTG	NM_018566		207222510	-1	tier1		no_errors	ENST00000315927	ensembl	human	known	74_37	in_frame_del	49.12	29	28	DEL	1.000:0.991:1.000	-	-	207222510	CTG	-	207222508	7	5	125	1	0	1	0	1	0	0	0	0	17537	913	32	0	146	0	YOD1	1	207222508	In_Frame_Del	DEL	CTG	TCGA-LN-A7HW-01A-22D-A351-09	4977015	207222508	42028113	8	32288											
USH2A	7399	genome.wustl.edu	37	chr1	215987082	215987082	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaaataaccctcacctggTagaattctagcgtaataccc	13	10	7	11	1	2	1	1	0	1	1	2	2	2	2	3	2	3	2	3	2	7	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:215987082T>C	ENST00000307340.3	-	49	10121	c.9735A>G	c.(9733-9735)ctA>ctG	p.L3245L	USH2A_ENST00000366943.2_Silent_p.L3245L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3245					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)		CCTCACCTGGTAGAATTCTAG	0.443										HNSCC(13;0.011)																																							0													112	107	109					1																	215987082		2203	4300	6503	SO:0001819	synonymous_variant	0			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.9735A>G	1.37:g.215987082T>C			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L3245	ENST00000307340.3	37	c.9735	CCDS31025.1	1																																																																																			USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000042781		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	155	0	T	NM_007123		215987082	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	31.40	118	54	SNP	0.008	C	C	215987082	T	C	215987082	2	2	125	1	0	0	0	0	0	0	0	1	17085	1625	57	4		4	USH2A	1	215987082	Silent	SNP	T	TCGA-LN-A7HW-01A-22D-A351-09	8764574	215987082	33263539	9	32289											
CHRM3	1131	genome.wustl.edu	37	chr1	240072316	240072316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttttgtgacagctgcatacCcaaaaccttttggaatctgg	10	13	8	10	0	1	1	0	1	1	0	1	2	1	2	2	2	4	2	2	2	4	5			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:240072316C>G	ENST00000255380.4	+	5	2344	c.1565C>G	c.(1564-1566)cCc>cGc	p.P522R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	522	Agonist binding. {ECO:0000250}.				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)	AGCTGCATACCCAAAACCTTT	0.502																																																	0													138	115	122					1																	240072316		2203	4300	6503	SO:0001583	missense	0			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.1565C>G	1.37:g.240072316C>G	ENSP00000255380:p.Pro522Arg		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.P522R	ENST00000255380.4	37	c.1565	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872303	0.72180	.	.	ENSG00000133019	ENST00000255380	T	0.39056	1.1	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70842	0.3270	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74688	-0.3581	10	0.87932	D	0	-22.5792	19.8984	0.96975	0.0:1.0:0.0:0.0	.	522	P20309	ACM3_HUMAN	R	522	ENSP00000255380:P522R	ENSP00000255380:P522R	P	+	2	0	CHRM3	238138939	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.818000	0.86416	2.713000	0.92767	0.655000	0.94253	CCC	CHRM3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt	ENSG00000133019		0.502	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	-	0	73	0	C	NM_000740		240072316	1	tier1	-	no_errors	ENST00000255380	ensembl	human	known	74_37	missense	35.05	63	34	SNP	1.000	G	G	240072316	C	G	240072316	3	3	125	1	0	0	0	0	1	0	0	0	3385	623	22	5	1567	5	CHRM3	1	240072316	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	24085234	240072316	9178305	10	32290											
ROCK2	9475	genome.wustl.edu	37	chr2	11332666	11332666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactccaaagcaggaggaGgcttaaacatgtgccacagg	13	5	13	10	0	0	0	0	0	0	0	1	2	1	2	2	5	3	3	2	5	3	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:11332666G>A	ENST00000315872.6	-	31	4308	c.3860C>T	c.(3859-3861)cCt>cTt	p.P1287L	ROCK2_ENST00000401753.1_Missense_Mutation_p.P1044L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1287	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGCAGGAGGAGGCTTAAACAT	0.413																																																	0													74	67	69					2																	11332666		1870	4093	5963	SO:0001583	missense	0			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3860C>T	2.37:g.11332666G>A	ENSP00000317985:p.Pro1287Leu		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P1287L	ENST00000315872.6	37	c.3860	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.236778	0.95240	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.70282	-0.47;0.59	5.52	5.52	0.82312	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86569	0.5964	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88227	0.2901	10	0.87932	D	0	.	19.4403	0.94817	0.0:0.0:1.0:0.0	.	1287	O75116	ROCK2_HUMAN	L	1287;1044;645	ENSP00000317985:P1287L;ENSP00000385509:P1044L	ENSP00000317985:P1287L	P	-	2	0	ROCK2	11250117	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	9.864000	0.99589	2.605000	0.88082	0.591000	0.81541	CCT	ROCK2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000134318		0.413	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	-	0	72	0	G			11332666	-1	tier1	-	no_errors	ENST00000315872	ensembl	human	known	74_37	missense	39.36	57	37	SNP	1.000	A	A	11332666	G	A	11332666	3	1	125	1	0	0	0	0	1	0	0	0	13563	1000	35	3	318	3	ROCK2	2	11332666	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		11332666	231866707	11	32291											
HNRPLL	92906	genome.wustl.edu	37	chr2	38796385	38796385	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagcacttgtaaagcgatTatttttgctcattgcaaaat	12	14	7	8	1	1	0	1	0	0	0	1	1	1	0	1	0	4	4	1	0	5	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:38796385T>A	ENST00000449105.3	-	10	1645	c.1306A>T	c.(1306-1308)Aat>Tat	p.N436Y	HNRNPLL_ENST00000378915.3_Missense_Mutation_p.N402Y|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.N431Y|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.N436Y|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.N402Y			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	436					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)										GTAAAGCGATTATTTTTGCTC	0.388																																																	0													118	111	113					2																	38796385		2203	4300	6503	SO:0001583	missense	0			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.1306A>T	2.37:g.38796385T>A	ENSP00000390625:p.Asn436Tyr		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.N436Y	ENST00000449105.3	37	c.1306		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.431403|4.431403	0.83776|0.83776	.|.	.|.	ENSG00000143889|ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328|ENST00000441689	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Nucleotide-binding, alpha-beta plait (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76962|.	0.4061|.	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.998;0.995|.	T|.	0.78663|.	-0.2116|.	9|.	0.87932|.	D|.	0|.	-8.4013|-8.4013	15.5718|15.5718	0.76345|0.76345	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	431;436;436|.	C9J9G0;D6W592;Q8WVV9|.	.;.;HNRLL_HUMAN|.	Y|L	436;431;402;402|42	.|.	ENSP00000368195:N402Y|.	N|X	-|-	1|2	0|2	HNRPLL|HNRPLL	38649889|38649889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.887000|7.887000	0.87295|0.87295	2.143000|2.143000	0.66587|0.66587	0.383000|0.383000	0.25322|0.25322	AAT|TAA	HNRNPLL	-	tigrfam_HnRNP-L_PTB	ENSG00000143889		0.388	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	HNRNPLL	HGNC	protein_coding	OTTHUMT00000219887.2	-	0	45	0	T	NM_138394		38796385	-1	tier1	-	no_errors	ENST00000449105	ensembl	human	known	74_37	missense	39.29	34	22	SNP	1.000	A	A	38796385	T	A	38796385	3	1	125	1	0	0	0	0	1	0	0	0	7304	1754	61	5	338	5	HNRPLL	2	38796385	Missense_Mutation	SNP	T	TCGA-LN-A7HW-01A-22D-A351-09	27463719	38796385	204402988	12	32292											
EPAS1	2034	genome.wustl.edu	37	chr2	46587838	46587838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggacttcttcatgaggatGaagtgcacggtcaccaacag	11	8	12	10	2	3	2	2	2	1	0	3	4	3	4	1	3	2	1	1	3	2	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:46587838G>A	ENST00000263734.3	+	5	1026	c.516G>A	c.(514-516)atG>atA	p.M172I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	172					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)			TCATGAGGATGAAGTGCACGG	0.532																																																	0													84	76	79					2																	46587838		2203	4300	6503	SO:0001583	missense	0			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.516G>A	2.37:g.46587838G>A	ENSP00000263734:p.Met172Ile		Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.M172I	ENST00000263734.3	37	c.516	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094900	0.76870	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.28895	1.59;1.59	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.86502	2.82	0.80722	D	1	B	0.14012	0.009	B	0.17722	0.019	T	0.52697	-0.8541	10	0.87932	D	0	.	17.8897	0.88867	0.0:0.0:1.0:0.0	.	172	Q99814	EPAS1_HUMAN	I	172	ENSP00000406137:M172I;ENSP00000263734:M172I	ENSP00000263734:M172I	M	+	3	0	EPAS1	46441342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.618000	0.98365	2.468000	0.83385	0.555000	0.69702	ATG	EPAS1	-	superfamily_PAS	ENSG00000116016		0.532	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	-	0	46	0	G	NM_001430		46587838	1	tier1	-	no_errors	ENST00000263734	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	A	A	46587838	G	A	46587838	3	1	125	1	0	0	0	0	1	0	0	0	5166	1290	45	3	534	3	EPAS1	2	46587838	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	7791453	46587838	196611535	13	32293											
SLC4A5	57835	genome.wustl.edu	37	chr2	74531762	74531762	+	Missense_Mutation	SNP	T	T	A	0	1	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	ccttctggtcagtttttcttTgagggtaagtgggtactgga	6	16	13	6	0	3	1	1	1	2	0	3	2	3	2	1	4	1	3	1	4	2	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:74531762T>A	ENST00000377634.4	-	7	524	c.125A>T	c.(124-126)cAa>cTa	p.Q42L	SLC4A5_ENST00000423644.1_Missense_Mutation_p.Q42L|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Q42L|SLC4A5_ENST00000394019.2_Missense_Mutation_p.Q42L|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000359484.4_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Q42L|SLC4A5_ENST00000377632.1_Missense_Mutation_p.Q42L					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						AGTTTTTCTTTGAGGGTAAGT	0.537																																																	0													82	81	81					2																	74531762		2203	4300	6503	SO:0001583	missense	0			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.125A>T	2.37:g.74531762T>A	ENSP00000366861:p.Gln42Leu			Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.Q42L	ENST00000377634.4	37	c.125	CCDS1936.1	2	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986026	0.35036	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000423644;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000444570;ENST00000436454	T;T;T;T;T;T;T	0.76578	-1.03;-0.85;-0.47;-1.03;-0.85;-1.03;-0.18	4.8	1.14	0.20703	.	0.416621	0.21498	N	0.073571	T	0.66470	0.2792	L	0.53249	1.67	0.09310	N	0.999999	B;B;B;B	0.25904	0.137;0.039;0.02;0.009	B;B;B;B	0.25140	0.058;0.011;0.016;0.014	T	0.55309	-0.8161	10	0.40728	T	0.16	.	3.6784	0.08301	0.0:0.199:0.1932:0.6077	.	42;42;42;42	Q9BY07-4;E7EQT3;Q9BY07;Q9BY07-3	.;.;S4A5_HUMAN;.	L	42	ENSP00000377587:Q42L;ENSP00000251768:Q42L;ENSP00000395804:Q42L;ENSP00000350475:Q42L;ENSP00000366859:Q42L;ENSP00000366861:Q42L;ENSP00000405678:Q42L	ENSP00000251768:Q42L	Q	-	2	0	SLC4A5	74385270	0.253000	0.23982	0.788000	0.31933	0.700000	0.40528	0.380000	0.20602	0.399000	0.25367	0.377000	0.23210	CAA	SLC4A5	-	NULL	ENSG00000188687		0.537	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	HGNC	protein_coding	OTTHUMT00000206583.3	-	0	122	0	T			74531762	-1	tier1	-	no_errors	ENST00000357822	ensembl	human	known	74_37	missense	34.68	81	43	SNP	0.229	A	A	74531762	T	A	74531762	3	1	125	1	0	0	0	0	1	0	0	0	14702	1812	63	5	3388	5	SLC4A5	2	74531762	Missense_Mutation	SNP	T	TCGA-LN-A7HW-01A-22D-A351-09	27943924	74531762	168667611	14	32294											
ZAP70	7535	genome.wustl.edu	37	chr2	98340795	98340795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggctgccctgcaacctgcGcaagccgtgcaaccggccgt	6	5	13	17	5	0	0	0	0	0	0	0	0	0	0	5	2	7	4	5	2	3	0			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:98340795G>A	ENST00000264972.5	+	3	511	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	99	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TGCAACCTGCGCAAGCCGTGC	0.692																																																	0													8	9	8					2																	98340795		2103	4147	6250	SO:0001583	missense	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.296G>A	2.37:g.98340795G>A	ENSP00000264972:p.Arg99His		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R99H	ENST00000264972.5	37	c.296	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821474	0.71028	.	.	ENSG00000115085	ENST00000264972	T	0.26957	1.7	4.9	4.01	0.46588	SH2 motif (2);	0.000000	0.47852	D	0.000209	T	0.34337	0.0894	M	0.87682	2.9	0.80722	D	1	P;D	0.59767	0.951;0.986	B;B	0.42319	0.369;0.383	T	0.43702	-0.9375	10	0.25106	T	0.35	.	13.4707	0.61281	0.0:0.1581:0.8419:0.0	.	99;99	B4E0E2;P43403	.;ZAP70_HUMAN	H	99	ENSP00000264972:R99H	ENSP00000264972:R99H	R	+	2	0	ZAP70	97707227	1.000000	0.71417	0.997000	0.53966	0.580000	0.36256	4.529000	0.60588	1.193000	0.43086	0.467000	0.42956	CGC	ZAP70	-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2	ENSG00000115085		0.692	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1		0	16	0	G			98340795	1			no_errors	ENST00000264972	ensembl	human	known	74_37	missense	25.00	9	3	SNP	1.000	A	A	98340795	G	A	98340795	3	1	125	1	0	0	0	0	1	0	0	0	17563	1087	38	1	298	1	ZAP70	2	98340795	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	23809033	98340795	144858578	15	32295											
TMEM182	130827	genome.wustl.edu	37	chr2	103414392	103414392	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcatcgcaagctttttgatCatctgtgcagcccccttcgc	6	13	8	14	2	3	1	2	1	1	0	5	1	3	1	2	0	3	3	2	0	1	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:103414392C>G	ENST00000412401.2	+	4	607	c.402C>G	c.(400-402)atC>atG	p.I134M	TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Missense_Mutation_p.I91M|TMEM182_ENST00000409528.1_Missense_Mutation_p.I38M	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	134						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GCTTTTTGATCATCTGTGCAG	0.517																																																	0													103	103	103					2																	103414392		2203	4300	6503	SO:0001583	missense	0			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.402C>G	2.37:g.103414392C>G	ENSP00000394178:p.Ile134Met		C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	NULL	p.I134M	ENST00000412401.2	37	c.402	CCDS2064.1	2	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261726	0.59431	.	.	ENSG00000170417	ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.70164	-0.46;-0.46;-0.46	5.23	4.35	0.52113	.	0.065038	0.64402	D	0.000001	T	0.76681	0.4021	L	0.59436	1.845	0.53005	D	0.999969	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.77925	-0.2405	10	0.72032	D	0.01	-24.3541	10.2313	0.43256	0.0:0.8476:0.0:0.1524	.	134;91	Q6ZP80;B8ZZ71	TM182_HUMAN;.	M	38;91;134	ENSP00000387258:I38M;ENSP00000387184:I91M;ENSP00000394178:I134M	ENSP00000387184:I91M	I	+	3	3	TMEM182	102780824	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	2.825000	0.48096	1.336000	0.45506	0.655000	0.94253	ATC	TMEM182	-	NULL	ENSG00000170417		0.517	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM182	HGNC	protein_coding	OTTHUMT00000253293.1	-	0	56	0	C	NM_144632		103414392	1	tier1	-	no_errors	ENST00000412401	ensembl	human	known	74_37	missense	39.47	46	30	SNP	1.000	G	G	103414392	C	G	103414392	3	3	125	1	0	0	0	0	1	0	0	0	16148	816	29	5	416	5	TMEM182	2	103414392	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	5073597	103414392	139784981	16	32296											
SCN1A	6323	genome.wustl.edu	37	chr2	166900237	166900237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagaagctgtccaacaggcGatgtaggaactgaaggtcca	13	6	13	9	1	0	2	0	1	0	1	2	4	2	3	2	3	3	3	2	3	5	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:166900237G>A	ENST00000303395.4	-	11	1984	c.1985C>T	c.(1984-1986)tCg>tTg	p.S662L	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Intron|SCN1A_ENST00000375405.3_Missense_Mutation_p.S662L|SCN1A_ENST00000423058.2_Missense_Mutation_p.S662L|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	662					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)	p.S662L(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCAACAGGCGATGTAGGAAC	0.483																																																	1	Substitution - Missense(1)	skin(1)											116	102	107					2																	166900237		2203	4300	6503	SO:0001583	missense	0			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.1985C>T	2.37:g.166900237G>A	ENSP00000303540:p.Ser662Leu		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.S662L	ENST00000303395.4	37	c.1985	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722557	0.48728	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405	D;D;D	0.91407	-2.84;-2.84;-2.84	4.9	4.9	0.64082	Domain of unknown function DUF3451 (1);	0.000000	0.56097	D	0.000028	D	0.86855	0.6033	L	0.39147	1.195	0.58432	D	0.999991	B;B	0.26602	0.045;0.154	B;B	0.25506	0.006;0.061	T	0.83172	-0.0093	10	0.23302	T	0.38	.	18.4438	0.90676	0.0:0.0:1.0:0.0	.	662;662	P35498-2;P35498	.;SCN1A_HUMAN	L	662	ENSP00000407030:S662L;ENSP00000303540:S662L;ENSP00000364554:S662L	ENSP00000303540:S662L	S	-	2	0	SCN1A	166608483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.590000	0.74085	2.423000	0.82170	0.561000	0.74099	TCG	SCN1A	-	pfam_DUF3451	ENSG00000144285		0.483	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0	106	0	G	NM_006920		166900237	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	49.51	52	51	SNP	1.000	A	A	166900237	G	A	166900237	3	1	125	1	0	0	0	0	1	0	0	0	13959	1059	37	1	4108	1	SCN1A	2	166900237	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	63485845	166900237	76299136	17	32297											
ABCB11	8647	genome.wustl.edu	37	chr2	169850332	169850332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaccacagatggtcgaggtCatgcgctgaatgaaaagggc	14	6	13	8	2	1	3	1	2	0	1	2	4	1	3	1	3	2	1	1	3	4	0			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:169850332C>T	ENST00000263817.6	-	8	796	c.672G>A	c.(670-672)atG>atA	p.M224I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	224	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)	TGGTCGAGGTCATGCGCTGAA	0.418																																																	0													56	54	55					2																	169850332		1901	4102	6003	SO:0001583	missense	0			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.672G>A	2.37:g.169850332C>T	ENSP00000263817:p.Met224Ile		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.M224I	ENST00000263817.6	37	c.672	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	9.730	1.161944	0.21538	.	.	ENSG00000073734	ENST00000263817	D	0.87809	-2.3	5.56	4.63	0.57726	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.214441	0.56097	D	0.000021	T	0.66137	0.2759	N	0.04260	-0.245	0.29259	N	0.871461	B	0.02656	0.0	B	0.06405	0.002	T	0.54296	-0.8315	10	0.12766	T	0.61	-9.6509	3.8629	0.09004	0.1547:0.4704:0.2878:0.0871	.	224	O95342	ABCBB_HUMAN	I	224	ENSP00000263817:M224I	ENSP00000263817:M224I	M	-	3	0	ABCB11	169558578	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.012000	0.40932	2.604000	0.88044	0.650000	0.86243	ATG	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000073734		0.418	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	-	0	98	0	C	NM_003742		169850332	-1	tier1	-	no_errors	ENST00000263817	ensembl	human	known	74_37	missense	47.30	39	35	SNP	1.000	T	T	169850332	C	T	169850332	3	4	125	1	0	0	0	0	1	0	0	0	42	826	29	3	3377	3	ABCB11	2	169850332	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	2950095	169850332	73349041	18	32298											
DYNC1I2	1781	genome.wustl.edu	37	chr2	172584836	172584836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctgtatattgtgtaaatGttgttggaacacaaaatgct	13	14	8	6	0	0	0	0	0	0	0	0	1	0	1	1	1	2	5	1	1	7	6	rs372393134		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:172584836G>T	ENST00000397119.3	+	13	1332	c.1165G>T	c.(1165-1167)Gtt>Ttt	p.V389F	DYNC1I2_ENST00000409773.1_Missense_Mutation_p.V389F|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.V363F|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.V383F|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.V363F|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.V363F|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.V381F|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.V381F|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.V383F|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.V389F|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.V389F	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	389					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)			TTGTGTAAATGTTGTTGGAAC	0.338																																																	0													50	46	47					2																	172584836		1836	4099	5935	SO:0001583	missense	0			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.1165G>T	2.37:g.172584836G>T	ENSP00000380308:p.Val389Phe		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.V389F	ENST00000397119.3	37	c.1165	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572112	0.86542	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;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;-0.14;-0.14;-0.14	6.01	6.01	0.97437	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	0.82688	0.5091	M	0.86028	2.79	0.80722	D	1	P;D;D;D;D	0.89917	0.801;1.0;0.997;0.997;1.0	P;D;D;D;D	0.87578	0.542;0.998;0.981;0.981;0.998	T	0.82617	-0.0369	10	0.52906	T	0.07	-20.5232	20.5211	0.99222	0.0:0.0:1.0:0.0	.	112;381;363;363;389	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	F	363;389;383;389;381;363;363;383;389;389;381	ENSP00000339430:V363F;ENSP00000433791:V389F;ENSP00000263811:V383F;ENSP00000380308:V389F;ENSP00000386522:V381F;ENSP00000423339:V363F;ENSP00000386397:V363F;ENSP00000386591:V383F;ENSP00000386415:V389F;ENSP00000386886:V389F;ENSP00000350692:V381F	ENSP00000263811:V383F	V	+	1	0	DYNC1I2	172293082	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.808000	0.99193	2.861000	0.98227	0.650000	0.86243	GTT	DYNC1I2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000077380		0.338	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2		0	34	0	G	NM_001378		172584836	1			no_errors	ENST00000397119	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	172584836	G	T	172584836	3	4	125	1	0	0	0	0	1	0	0	0	4857	1377	48	3	1211	3	DYNC1I2	2	172584836	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	2734504	172584836	70614537	19	32299											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098953	178098953	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caaatacttctcgacttactCcaagatctatatcttgcctc	11	14	3	13	1	3	1	0	0	3	1	6	2	4	1	2	0	3	0	2	0	6	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:178098953C>G	ENST00000397062.3	-	2	646	c.92G>C	c.(91-93)gGa>gCa	p.G31A	NFE2L2_ENST00000423513.1_Missense_Mutation_p.G15A|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G15A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G15A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G15A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	31					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G31A(5)		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)			TCGACTTACTCCAAGATCTAT	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	5	Substitution - Missense(5)	lung(3)|oesophagus(1)|skin(1)											70	63	65					2																	178098953		1841	4101	5942	SO:0001583	missense	0				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.92G>C	2.37:g.178098953C>G	ENSP00000380252:p.Gly31Ala		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.G31A	ENST00000397062.3	37	c.92	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199409	0.79015	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	15;15;15;31	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	A	15;31;15;15;15;15;15	ENSP00000380253:G15A;ENSP00000380252:G31A;ENSP00000411575:G15A;ENSP00000391590:G15A;ENSP00000400073:G15A;ENSP00000412191:G15A;ENSP00000410015:G15A	ENSP00000380252:G31A	G	-	2	0	NFE2L2	177807199	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.764000	0.68826	2.737000	0.93849	0.563000	0.77884	GGA	NFE2L2	-	NULL	ENSG00000116044		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0	56	0	C	NM_006164		178098953	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	47.83	24	22	SNP	1.000	G	G	178098953	C	G	178098953	3	3	125	1	0	0	0	0	1	0	0	0	10407	855	30	5	1741	5	NFE2L2	2	178098953	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	5514117	178098953	65100420	20	32300											
ZNF385B	151126	genome.wustl.edu	37	chr2	180409561	180409561	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatttactcactgtgttaAaatttggaaagagcccaaca	15	12	7	7	0	1	2	1	1	0	1	1	3	1	3	1	1	3	1	1	1	6	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:180409561A>T	ENST00000410066.1	-	4	992	c.389T>A	c.(388-390)tTt>tAt	p.F130Y	ZNF385B_ENST00000336917.5_Missense_Mutation_p.F28Y|ZNF385B_ENST00000409343.1_Missense_Mutation_p.F54Y|ZNF385B_ENST00000409692.1_Missense_Mutation_p.F28Y|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	130	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CACTGTGTTAAAATTTGGAAA	0.388																																					Colon(155;204 2491 32774 51842)												0													127	133	131					2																	180409561		2203	4300	6503	SO:0001583	missense	0			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.389T>A	2.37:g.180409561A>T	ENSP00000386845:p.Phe130Tyr		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.F130Y	ENST00000410066.1	37	c.389	CCDS33339.1	2	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211025	0.79240	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304;ENST00000439340	T;T;T;T;T;T	0.58358	0.98;0.98;0.98;0.98;0.98;0.34	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	L	0.58583	1.82	0.54753	D	0.999988	D;D	0.71674	0.993;0.998	D;D	0.78314	0.971;0.991	T	0.66693	-0.5859	10	0.36615	T	0.2	-29.0313	16.4608	0.84044	1.0:0.0:0.0:0.0	.	130;54	Q569K4;Q569K4-2	Z385B_HUMAN;.	Y	130;28;54;28;28;48	ENSP00000386845:F130Y;ENSP00000338225:F28Y;ENSP00000386379:F54Y;ENSP00000386507:F28Y;ENSP00000394038:F28Y;ENSP00000399198:F48Y	ENSP00000338225:F28Y	F	-	2	0	ZNF385B	180117806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.288000	0.76882	0.533000	0.62120	TTT	ZNF385B	-	NULL	ENSG00000144331		0.388	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385B	HGNC	protein_coding	OTTHUMT00000335972.1	-	0	77	0	A	NM_152520		180409561	-1	tier1	-	no_errors	ENST00000410066	ensembl	human	known	74_37	missense	25.35	53	18	SNP	1.000	T	T	180409561	A	T	180409561	3	4	125	1	0	0	0	0	1	0	0	0	17925	14	1	5	1054	5	ZNF385B	2	180409561	Missense_Mutation	SNP	A	TCGA-LN-A7HW-01A-22D-A351-09	2310608	180409561	62789812	21	32301											
ORC2L	4999	genome.wustl.edu	37	chr2	201790582	201790582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaatttgtttactatcCagtctagctgatccagtata	11	17	5	8	0	1	1	0	1	1	0	3	1	3	1	2	0	2	3	2	0	7	9			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:201790582C>A	ENST00000234296.2	-	13	1373	c.1124G>T	c.(1123-1125)tGg>tTg	p.W375L	RN7SL694P_ENST00000584245.1_RNA	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	375					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						GTTTACTATCCAGTCTAGCTG	0.348																																																	0													150	144	146					2																	201790582		2203	4300	6503	SO:0001583	missense	0				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.1124G>T	2.37:g.201790582C>A	ENSP00000234296:p.Trp375Leu		Q13204|Q53TX5	Missense_Mutation	SNP	pfam_ORC2	p.W375L	ENST00000234296.2	37	c.1124	CCDS2334.1	2	.	.	.	.	.	.	.	.	.	.	C	6.506	0.461521	0.12342	.	.	ENSG00000115942	ENST00000234296	T	0.38240	1.15	5.34	4.46	0.54185	.	0.338502	0.33110	N	0.005262	T	0.14960	0.0361	N	0.04090	-0.28	0.36608	D	0.87506	B;B	0.15141	0.0;0.012	B;B	0.21151	0.012;0.033	T	0.13953	-1.0490	10	0.10111	T	0.7	-4.1704	7.6907	0.28567	0.2666:0.6508:0.0:0.0826	.	375;375	B4DYU9;Q13416	.;ORC2_HUMAN	L	375	ENSP00000234296:W375L	ENSP00000234296:W375L	W	-	2	0	ORC2	201498827	1.000000	0.71417	0.999000	0.59377	0.776000	0.43924	2.764000	0.47613	1.396000	0.46663	0.585000	0.79938	TGG	ORC2	-	pfam_ORC2	ENSG00000115942		0.348	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	HGNC	protein_coding	OTTHUMT00000256191.2		0	49	0	C	NM_006190		201790582	-1			no_errors	ENST00000234296	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.999	A	A	201790582	C	A	201790582	3	1	125	1	0	0	0	0	1	0	0	0	11301	595	21	3	633	3	ORC2L	2	201790582	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	21381021	201790582	41408791	22	32302											
BSN	8927	genome.wustl.edu	37	chr3	49700504	49700504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagggtggcccaggccGccatgcctcagccaaggaac	9	5	14	13	1	1	2	1	2	0	0	1	3	1	3	5	4	3	0	5	4	2	0	rs147167809	byFrequency	TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:49700504G>A	ENST00000296452.4	+	7	11027	c.10913G>A	c.(10912-10914)cGc>cAc	p.R3638H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3638					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)		GGCCCAGGCCGCCATGCCTCA	0.672																																																	0								G	HIS/ARG	2,4402	4.2+/-10.8	0,2,2200	27	27	27		10913	5.1	1	3	dbSNP_134	27	0,8596		0,0,4298	no	missense	BSN	NM_003458.3	29	0,2,6498	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	3638/3927	49700504	2,12998	2202	4298	6500	SO:0001583	missense	0			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.10913G>A	3.37:g.49700504G>A	ENSP00000296452:p.Arg3638His		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R3638H	ENST00000296452.4	37	c.10913	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441173	0.43326	4.54E-4	0.0	ENSG00000164061	ENST00000296452	T	0.25414	1.8	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.51317	-0.8721	10	0.87932	D	0	-13.6666	18.0102	0.89221	0.0:0.0:1.0:0.0	.	3638	Q9UPA5	BSN_HUMAN	H	3638	ENSP00000296452:R3638H	ENSP00000296452:R3638H	R	+	2	0	BSN	49675508	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.409000	0.66374	2.334000	0.79466	0.591000	0.81541	CGC	BSN	-	NULL	ENSG00000164061		0.672	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	-	0	42	0	G	NM_003458		49700504	1	tier1	rs147167809	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	48.65	19	18	SNP	1.000	A	A	49700504	G	A	49700504	3	1	125	1	0	0	0	0	1	0	0	0	1534	1087	38	1	10939	1	BSN	3	49700504	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		49700504	148321926	23	32303											
DOCK3	1795	genome.wustl.edu	37	chr3	51312516	51312516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctctcccagaatcccGccgcatcctgcttcctgtgg	5	13	7	16	2	1	1	0	0	1	1	6	1	5	1	5	1	1	2	5	1	1	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:51312516G>T	ENST00000266037.9	+	25	2578	c.2555G>T	c.(2554-2556)cGc>cTc	p.R852L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	852					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R852H(1)		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)		CCAGAATCCCGCCGCATCCTG	0.483																																																	1	Substitution - Missense(1)	large_intestine(1)											183	183	183					3																	51312516		1901	4126	6027	SO:0001583	missense	0			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.2555G>T	3.37:g.51312516G>T	ENSP00000266037:p.Arg852Leu		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R852L	ENST00000266037.9	37	c.2555	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.486338	0.96323	.	.	ENSG00000088538	ENST00000266037	T	0.15017	2.46	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47911	-0.9080	10	0.87932	D	0	.	20.1224	0.97967	0.0:0.0:1.0:0.0	.	852	Q8IZD9	DOCK3_HUMAN	L	852	ENSP00000266037:R852L	ENSP00000266037:R852L	R	+	2	0	DOCK3	51287556	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.749000	0.94314	0.650000	0.86243	CGC	DOCK3	-	superfamily_ARM-type_fold	ENSG00000088538		0.483	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5		0	73	0	G	NM_004947		51312516	1			no_errors	ENST00000266037	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	51312516	G	T	51312516	3	4	125	1	0	0	0	0	1	0	0	0	4702	1087	38	2	2653	2	DOCK3	3	51312516	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	1612012	51312516	146709914	24	32304											
ARHGEF3	50650	genome.wustl.edu	37	chr3	56763546	56763546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtttctttggcttgacGaatacagttaagccactgct	10	14	8	9	1	1	1	0	1	1	0	1	2	1	1	1	1	4	4	1	1	4	5			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:56763546G>T	ENST00000296315.3	-	10	1501	c.1333C>A	c.(1333-1335)Cgt>Agt	p.R445S	ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R477S|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.R451S|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R451S|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R416S	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	445	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)		TTGGCTTGACGAATACAGTTA	0.488																																																	0													125	127	126					3																	56763546		2203	4300	6503	SO:0001583	missense	0			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.1333C>A	3.37:g.56763546G>T	ENSP00000296315:p.Arg445Ser		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R477S	ENST00000296315.3	37	c.1429	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307858	0.81247	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.95	5.95	0.96441	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.77004	0.96;0.975;0.989;0.987;0.96;0.989	T	0.56721	-0.7932	10	0.62326	D	0.03	-11.142	20.3789	0.98926	0.0:0.0:1.0:0.0	.	451;416;243;477;445;451	E9PG37;E7EU49;Q9NR81-4;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	S	445;477;451;451;416	ENSP00000296315:R445S;ENSP00000341071:R477S;ENSP00000410922:R451S;ENSP00000420420:R451S;ENSP00000418826:R416S	ENSP00000296315:R445S	R	-	1	0	ARHGEF3	56738586	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.366000	0.59492	2.826000	0.97356	0.563000	0.77884	CGT	ARHGEF3	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000163947		0.488	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2		0	45	0	G	NM_019555		56763546	-1			no_errors	ENST00000338458	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	56763546	G	T	56763546	3	4	125	1	0	0	0	0	1	0	0	0	904	1058	37	2	251	2	ARHGEF3	3	56763546	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	5451030	56763546	141258884	25	32305											
KIAA2018	205717	genome.wustl.edu	37	chr3	113379264	113379264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttccagctgaagagattCgtgtaaggctattaatgttt	10	16	10	5	1	0	2	0	1	0	1	2	3	1	2	1	1	1	5	1	1	4	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:113379264C>A	ENST00000478658.1	-	5	1282	c.1265G>T	c.(1264-1266)cGa>cTa	p.R422L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.R422L			Q68DE3	K2018_HUMAN	KIAA2018	422						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						TGAAGAGATTCGTGTAAGGCT	0.428																																																	0													77	75	76					3																	113379264		1936	4150	6086	SO:0001583	missense	0			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.1265G>T	3.37:g.113379264C>A	ENSP00000420721:p.Arg422Leu		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R422L	ENST00000478658.1	37	c.1265	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679606	0.68042	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.34472	1.36;1.36	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	T	0.52075	0.1712	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.50491	-0.8822	10	0.52906	T	0.07	-12.2214	18.8197	0.92090	0.0:1.0:0.0:0.0	.	422	Q68DE3	K2018_HUMAN	L	422	ENSP00000320794:R422L;ENSP00000420721:R422L	ENSP00000320794:R422L	R	-	2	0	KIAA2018	114861954	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.439000	0.59968	2.671000	0.90904	0.650000	0.86243	CGA	KIAA2018	-	NULL	ENSG00000176542		0.428	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	-	0	65	0	C	NM_001009899		113379264	-1	tier1	-	no_errors	ENST00000316407	ensembl	human	known	74_37	missense	59.52	17	25	SNP	1.000	A	A	113379264	C	A	113379264	3	1	125	1	0	0	0	0	1	0	0	0	8295	884	31	2	5476	2	KIAA2018	3	113379264	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	56615718	113379264	84643166	26	32306											
C3orf72	401089	genome.wustl.edu	37	chr3	138669212	138669212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgaggcaggcagcgcttCgctagaaccactcagctcgt	8	8	11	14	3	2	2	1	1	1	1	4	2	2	2	1	2	3	5	1	2	2	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:138669212C>T	ENST00000383165.3	+	3	457	c.326C>T	c.(325-327)tCg>tTg	p.S109L		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		109										large_intestine(1)|lung(3)	4						GGCAGCGCTTCGCTAGAACCA	0.701																																																	0													12	18	16					3																	138669212		1821	4056	5877	SO:0001583	missense	0																														ENST00000383165.3:c.326C>T	3.37:g.138669212C>T	ENSP00000372651:p.Ser109Leu		A6NGX0	Missense_Mutation	SNP	NULL	p.S109L	ENST00000383165.3	37	c.326	CCDS43155.1	3	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261034	0.39995	.	.	ENSG00000206262	ENST00000383165	.	.	.	2.91	-5.82	0.02333	.	.	.	.	.	T	0.12050	0.0293	N	0.19112	0.55	0.09310	N	1	B	0.33494	0.414	B	0.20577	0.03	T	0.10064	-1.0646	8	0.87932	D	0	.	1.3992	0.02267	0.1291:0.2185:0.3317:0.3207	.	109	Q6ZUU3	CC072_HUMAN	L	109	.	ENSP00000372651:S109L	S	+	2	0	C3orf72	140151902	0.000000	0.05858	0.000000	0.03702	0.338000	0.28826	-0.809000	0.04510	-1.950000	0.01030	0.555000	0.69702	TCG	C3orf72	-	NULL	ENSG00000206262		0.701	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf72	HGNC	protein_coding	OTTHUMT00000357986.1	-	0	19	0	C			138669212	1	tier1	-	no_errors	ENST00000383165	ensembl	human	known	74_37	missense	65.85	14	27	SNP	0.000	T	T	138669212	C	T	138669212	3	4	125	1	0	0	0	0	1	0	0	0	2251	893	31	1	336	1	C3orf72	3	138669212	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	25289948	138669212	59353218	27	32307											
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	124	0	G			178936091	1	tier1	rs104886003	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	39.93	164	109	SNP	1.000	A	A	178936091	G	A	178936091	3	1	125	1	0	0	0	0	1	0	0	0	11952	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	40266879	178936091	19086339	28	32308											
SPATA18	132671	genome.wustl.edu	37	chr4	52926601	52926601	+	Missense_Mutation	SNP	A	A	G	1	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	gcagacaaacacgtgtgatcAaaatctaaaccattgccttg	15	9	7	10	1	2	2	1	1	1	1	2	2	2	2	2	0	3	1	2	0	5	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr4:52926601A>G	ENST00000295213.4	+	2	478	c.104A>G	c.(103-105)cAa>cGa	p.Q35R	SPATA18_ENST00000419395.2_Missense_Mutation_p.Q35R|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	35					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ACGTGTGATCAAAATCTAAAC	0.498																																																	0													101	91	95					4																	52926601		2203	4300	6503	SO:0001583	missense	0			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.104A>G	4.37:g.52926601A>G	ENSP00000295213:p.Gln35Arg		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	NULL	p.Q35R	ENST00000295213.4	37	c.104	CCDS3489.1	4	.	.	.	.	.	.	.	.	.	.	A	16.49	3.136879	0.56936	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.35605	1.3;1.31	5.08	3.86	0.44501	.	0.166448	0.53938	D	0.000043	T	0.42675	0.1213	M	0.71581	2.175	0.34798	D	0.736419	P;P;P	0.52316	0.557;0.557;0.952	B;B;P	0.48488	0.372;0.372;0.579	T	0.59461	-0.7450	10	0.72032	D	0.01	-5.0916	8.072	0.30695	0.8201:0.0:0.0:0.1799	.	35;35;35	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	R	35	ENSP00000295213:Q35R;ENSP00000415309:Q35R	ENSP00000295213:Q35R	Q	+	2	0	SPATA18	52621358	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	3.277000	0.51654	1.008000	0.39264	0.379000	0.24179	CAA	SPATA18	-	NULL	ENSG00000163071		0.498	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA18	HGNC	protein_coding	OTTHUMT00000250597.2	-	0	136	0	A	NM_145263		52926601	1	tier1	-	no_errors	ENST00000295213	ensembl	human	known	74_37	missense	56.96	34	45	SNP	1.000	G	G	52926601	A	G	52926601	3	3	125	1	0	0	0	0	1	0	0	0	15050	130	5	4	110	4	SPATA18	4	52926601	Missense_Mutation	SNP	A	TCGA-LN-A7HW-01A-22D-A351-09		52926601	138227675	29	32309											
RG9MTD2	93587	genome.wustl.edu	37	chr4	100472105	100472105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttccaagtgggagctgtgCatgattgattccataatctg	10	14	10	7	0	1	2	0	2	1	0	3	3	3	3	2	1	2	2	2	1	2	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr4:100472105C>T	ENST00000273962.3	-	7	1000	c.688G>A	c.(688-690)Gca>Aca	p.A230T	TRMT10A_ENST00000394877.3_Missense_Mutation_p.A230T|TRMT10A_ENST00000394876.2_Missense_Mutation_p.A230T	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	230	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.A230S(1)									GGGAGCTGTGCATGATTGATT	0.343																																																	1	Substitution - Missense(1)	lung(1)											99	93	95					4																	100472105		2203	4300	6503	SO:0001583	missense	0			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.688G>A	4.37:g.100472105C>T	ENSP00000273962:p.Ala230Thr		B2R8X7|Q9Y2T9	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	p.A230T	ENST00000273962.3	37	c.688	CCDS3650.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.613192	0.96637	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.26957	1.7;1.7;1.7	5.86	5.86	0.93980	.	0.045845	0.85682	D	0.000000	T	0.66616	0.2807	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76099	-0.3083	10	0.72032	D	0.01	-27.8938	20.1823	0.98208	0.0:1.0:0.0:0.0	.	230	Q8TBZ6	RG9D2_HUMAN	T	230	ENSP00000378343:A230T;ENSP00000273962:A230T;ENSP00000378342:A230T	ENSP00000273962:A230T	A	-	1	0	RG9MTD2	100691128	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.062000	0.76706	2.771000	0.95319	0.650000	0.86243	GCA	TRMT10A	-	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	ENSG00000145331		0.343	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	HGNC	protein_coding	OTTHUMT00000253668.1	-	0	98	0	C	NM_152292		100472105	-1	tier1	-	no_errors	ENST00000273962	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	100472105	C	T	100472105	3	4	125	1	0	0	0	0	1	0	0	0	13317	710	25	3	339	3	RG9MTD2	4	100472105	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	47545504	100472105	90682171	30	32310											
MAML3	55534	genome.wustl.edu	37	chr4	140811078	140811078	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttgctgctgctgctgCtgctgctgctgctgctgctg	0	15	14	12	0	0	0	0	0	0	0	0	0	0	0	0	0	12	13	0	0	0	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr4:140811078C>T	ENST00000509479.2	-	2	2368	c.1512G>A	c.(1510-1512)caG>caA	p.Q504Q	MAML3_ENST00000398940.1_Intron|MAML3_ENST00000327122.5_Silent_p.Q348Q	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	0.527																																																	0													27	35	32					4																	140811078		2170	4289	6459	SO:0001819	synonymous_variant	0			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.1512G>A	4.37:g.140811078C>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q504	ENST00000509479.2	37	c.1512	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.527	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2		0	48	0	C			140811078	-1			no_errors	ENST00000509479	ensembl	human	known	74_37	silent	5.71	33	2	SNP	1.000	T	T	140811078	C	T	140811078	2	4	125	1	0	0	0	0	0	0	0	1	9245	811	28	3		3	MAML3	4	140811078	Silent	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	40338973	140811078	50343198	31	32311											
SDHA	6389	genome.wustl.edu	37	chr5	233760	233760	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggagatccgagaaggaaGgtgcgtgtgatttaccacca	11	9	13	8	2	1	3	0	1	1	2	2	6	2	4	3	3	2	0	3	3	3	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr5:233760G>A	ENST00000264932.6	+	8	1179	c.1064G>A	c.(1063-1065)aGa>aAa	p.R355K	SDHA_ENST00000510361.1_Splice_Site_p.R307K|SDHA_ENST00000504309.1_Splice_Site_p.R355K	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	355					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)	CGAGAAGGAAGGTGCGTGTGA	0.597									Familial Paragangliomas																																								0													121	111	114					5																	233760		2203	4300	6503	SO:0001630	splice_region_variant	0	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.1064+1G>A	5.37:g.233760G>A			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.R355K	ENST00000264932.6	37	c.1064	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	N	26.8	4.769610	0.90020	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.70164	-0.46;-0.46;-0.46	4.51	4.51	0.55191	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.82829	0.5122	M	0.86268	2.805	0.80722	D	1	D;P;D;P;P	0.76494	0.999;0.884;0.987;0.885;0.885	D;P;D;P;P	0.75484	0.986;0.724;0.947;0.658;0.658	D	0.86266	0.1658	10	0.87932	D	0	.	15.0787	0.72096	0.0:0.0:1.0:0.0	.	307;355;355;355;361	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	K	355;210;355;307	ENSP00000264932:R355K;ENSP00000426514:R355K;ENSP00000427703:R307K	ENSP00000264932:R355K	R	+	2	0	SDHA	286760	1.000000	0.71417	0.999000	0.59377	0.575000	0.36095	8.782000	0.91809	2.195000	0.70347	0.650000	0.86243	AGA	SDHA	-	pfam_FAD_bind_dom,superfamily_Succ_DH/fumarate_Rdtase_cat,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	ENSG00000073578		0.597	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	-	0	152	0	G	NM_004168	Missense_Mutation	233760	1	tier1	-	no_errors	ENST00000264932	ensembl	human	known	74_37	missense	60.28	112	170	SNP	1.000	A	A	233760	G	A	233760	5	1	125	1	0	0	0	0	0	0	1	0	14008	1014	35	3	1094	3	SDHA	5	233760	Splice_Site	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		233760	180681500	32	32312											
CDH10	1008	genome.wustl.edu	37	chr5	24509822	24509822	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctatagagattttcactAtggtagtatctttaaatggt	11	18	7	5	0	3	1	1	0	2	1	3	2	3	1	0	2	0	2	0	2	7	10			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr5:24509822A>G	ENST00000264463.4	-	7	1616	c.1109T>C	c.(1108-1110)aTa>aCa	p.I370T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	370	Cadherin 3. {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)		GATTTTCACTATGGTAGTATC	0.383										HNSCC(23;0.051)																																							0													84	86	86					5																	24509822		2203	4300	6503	SO:0001583	missense	0			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.1109T>C	5.37:g.24509822A>G	ENSP00000264463:p.Ile370Thr		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I370T	ENST00000264463.4	37	c.1109	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	A	1.268	-0.613837	0.03690	.	.	ENSG00000040731	ENST00000264463	T	0.01947	4.54	5.26	5.26	0.73747	Cadherin (3);Cadherin-like (1);	0.158399	0.56097	D	0.000036	T	0.00666	0.0022	N	0.00382	-1.575	0.42167	D	0.991627	B	0.02656	0.0	B	0.06405	0.002	T	0.43686	-0.9376	10	0.02654	T	1	.	9.2157	0.37346	0.9188:0.0:0.0812:0.0	.	370	Q9Y6N8	CAD10_HUMAN	T	370	ENSP00000264463:I370T	ENSP00000264463:I370T	I	-	2	0	CDH10	24545579	1.000000	0.71417	0.973000	0.42090	0.864000	0.49448	3.965000	0.56788	2.121000	0.65114	0.528000	0.53228	ATA	CDH10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.383	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0	90	0	A	NM_006727		24509822	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	missense	19.42	112	27	SNP	1.000	G	G	24509822	A	G	24509822	3	3	125	1	0	0	0	0	1	0	0	0	3103	449	16	4	1281	4	CDH10	5	24509822	Missense_Mutation	SNP	A	TCGA-LN-A7HW-01A-22D-A351-09	24276062	24509822	156405438	33	32313											
ZFR	51663	genome.wustl.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	1	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	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	5	10	13	13	0	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2	rs139769264		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																																	1	Substitution - coding silent(1)	endometrium(1)						A		0,4406		0,0,2203	35	36	36		882	-7.9	1	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T			B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.A294	ENST00000265069.8	37	c.882	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC	ZFR	-	NULL	ENSG00000056097		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1		0	31	0	A			32407029	-1			no_errors	ENST00000265069	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.601	T	T	32407029	A	T	32407029	2	4	125	1	0	0	0	0	0	0	0	1	17707	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-LN-A7HW-01A-22D-A351-09	7897207	32407029	148508231	34	32314											
BRIX1	55299	genome.wustl.edu	37	chr5	34918517	34918517	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcttttcttccagaggaAtaaattttagaacaagacat	15	14	5	7	0	3	3	1	0	2	3	4	4	4	4	1	1	1	0	1	1	6	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr5:34918517A>T	ENST00000336767.5	+	2	571	c.208A>T	c.(208-210)Ata>Tta	p.I70L	BRIX1_ENST00000506023.1_Intron|RAD1_ENST00000382038.2_5'Flank|RAD1_ENST00000341754.4_Intron	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	70	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TTCCAGAGGAATAAATTTTAG	0.299																																																	0													59	64	63					5																	34918517		2203	4298	6501	SO:0001583	missense	0				CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"brix domain containing 2"	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.208A>T	5.37:g.34918517A>T	ENSP00000338862:p.Ile70Leu		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.I70L	ENST00000336767.5	37	c.208	CCDS34143.1	5	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614161	0.87359	.	.	ENSG00000113460	ENST00000336767	T	0.41400	1.0	5.71	5.71	0.89125	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	M	0.79614	2.46	0.80722	D	1	P;B	0.40282	0.711;0.333	P;B	0.49953	0.627;0.348	T	0.57682	-0.7769	10	0.38643	T	0.18	-24.9493	15.1623	0.72793	1.0:0.0:0.0:0.0	.	70;70	B4E0B8;Q8TDN6	.;BRX1_HUMAN	L	70	ENSP00000338862:I70L	ENSP00000338862:I70L	I	+	1	0	BRIX1	34954274	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.802000	0.62539	2.179000	0.69175	0.379000	0.24179	ATA	BRIX1	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	ENSG00000113460		0.299	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIX1	HGNC	protein_coding	OTTHUMT00000366826.2	-	0	160	0	A	NM_018321		34918517	1	tier1	-	no_errors	ENST00000336767	ensembl	human	known	74_37	missense	65.78	103	198	SNP	1.000	T	T	34918517	A	T	34918517	3	4	125	1	0	0	0	0	1	0	0	0	1519	101	4	5	214	5	BRIX1	5	34918517	Missense_Mutation	SNP	A	TCGA-LN-A7HW-01A-22D-A351-09	2511488	34918517	145996743	35	32315											
HIVEP1	3096	genome.wustl.edu	37	chr6	12164527	12164527	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcgtccacgtcacaacctCtgctgaaggcacattctgaa	11	8	8	14	2	3	2	1	2	2	0	4	2	4	2	2	1	3	2	2	1	3	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr6:12164527C>T	ENST00000379388.2	+	9	8322	c.7990C>T	c.(7990-7992)Ctg>Ttg	p.L2664L	HIVEP1_ENST00000541134.1_Silent_p.L529L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2664					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)				GTCACAACCTCTGCTGAAGGC	0.552																																																	0													45	49	47					6																	12164527		2129	4245	6374	SO:0001819	synonymous_variant	0			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.7990C>T	6.37:g.12164527C>T			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L2664	ENST00000379388.2	37	c.7990	CCDS43426.1	6																																																																																			HIVEP1	-	NULL	ENSG00000095951		0.552	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	0	30	0	C	NM_002114		12164527	1	tier1	-	no_errors	ENST00000379388	ensembl	human	known	74_37	silent	29.63	19	8	SNP	0.000	T	T	12164527	C	T	12164527	2	4	125	1	0	0	0	0	0	0	0	1	7213	912	32	3		3	HIVEP1	6	12164527	Silent	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09		12164527	158950540	36	32316											
PRL	5617	genome.wustl.edu	37	chr6	22287656	22287656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttgttgttgtggatgattCggcacttcaggagcttgaga	8	14	14	5	1	1	2	1	2	0	1	2	5	1	4	0	3	1	5	0	3	0	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr6:22287656C>T	ENST00000306482.1	-	5	1177	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	220					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GTGGATGATTCGGCACTTCAG	0.428																																																	0													293	259	271					6																	22287656		2203	4300	6503	SO:0001583	missense	0			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.659G>A	6.37:g.22287656C>T	ENSP00000302150:p.Arg220Gln		Q15199|Q92996	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R220Q	ENST00000306482.1	37	c.659	CCDS4548.1	6	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939494	0.52972	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.92911	-3.13	5.55	3.66	0.41972	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.110178	0.64402	N	0.000006	D	0.85725	0.5763	M	0.75884	2.315	0.53688	D	0.999977	B;P	0.41313	0.347;0.745	B;B	0.38056	0.133;0.264	D	0.83624	0.0141	10	0.45353	T	0.12	0.168	9.6308	0.39778	0.0:0.8123:0.0:0.1877	.	220;221	P01236;Q5I0G2	PRL_HUMAN;.	Q	220;189	ENSP00000302150:R220Q	ENSP00000302150:R220Q	R	-	2	0	PRL	22395635	0.999000	0.42202	0.978000	0.43139	0.671000	0.39405	1.534000	0.36051	0.690000	0.31570	0.655000	0.94253	CGA	PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	ENSG00000172179		0.428	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	-	0	72	0	C	NM_000948		22287656	-1	tier1	-	no_errors	ENST00000306482	ensembl	human	known	74_37	missense	36.73	31	18	SNP	0.999	T	T	22287656	C	T	22287656	3	4	125	1	0	0	0	0	1	0	0	0	12570	884	31	1	28	1	PRL	6	22287656	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	10123129	22287656	148827411	37	32317											
HIST1H3G	8355	genome.wustl.edu	37	chr6	26271357	26271357	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccatcaccgcggaactctGaaagcgcagatctgtcttga	10	8	11	12	3	4	3	1	2	3	1	4	4	4	4	2	2	2	1	2	2	2	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr6:26271357G>A	ENST00000305910.3	-	1	255	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	86					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GCGGAACTCTGAAAGCGCAGA	0.572																																																	0													87	90	89					6																	26271357		2203	4300	6503	SO:0001587	stop_gained	0			Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"Histones / Replication-dependent"	4772	protein-coding gene	gene with protein product		602815	"H3 histone family, member H", "histone 1, H3g"	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.256C>T	6.37:g.26271357G>A	ENSP00000439660:p.Gln86*		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Nonsense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.Q86*	ENST00000305910.3	37	c.256	CCDS4602.1	6	.	.	.	.	.	.	.	.	.	.	.	15.75	2.925028	0.52759	.	.	ENSG00000256018	ENST00000305910	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9896	0.80193	0.0:0.0:1.0:0.0	.	.	.	.	X	86	.	ENSP00000439660:Q86X	Q	-	1	0	HIST1H3G	26379336	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	7.638000	0.83328	2.183000	0.69458	0.563000	0.77884	CAG	HIST1H3G	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000256018		0.572	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3G	HGNC	protein_coding	OTTHUMT00000040099.2	-	0	111	0	G	NM_003534		26271357	-1	tier1	-	no_errors	ENST00000305910	ensembl	human	known	74_37	nonsense	40.15	79	53	SNP	1.000	A	A	26271357	G	A	26271357	4	1	125	1	0	0	0	0	0	1	0	0	7188	1299	45	3	158	3	HIST1H3G	6	26271357	Nonsense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	3983701	26271357	144843710	38	32318											
MYO6	4646	genome.wustl.edu	37	chr6	76591508	76591508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtcgctggaagaaagttCagtggtgctcactctcagtc	9	10	12	10	1	3	1	3	0	1	1	6	2	3	2	0	2	1	4	0	2	2	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr6:76591508C>G	ENST00000369977.3	+	23	2528	c.2389C>G	c.(2389-2391)Cag>Gag	p.Q797E	MYO6_ENST00000369985.4_Missense_Mutation_p.Q797E|MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369981.3_Missense_Mutation_p.Q797E|MYO6_ENST00000369975.1_Missense_Mutation_p.Q797E	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	797	Required for binding calmodulin. {ECO:0000250}.				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)		GAAGAAAGTTCAGTGGTGCTC	0.423																																																	0													155	148	150					6																	76591508		2203	4300	6503	SO:0001583	missense	0			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.2389C>G	6.37:g.76591508C>G	ENSP00000358994:p.Gln797Glu		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.Q797E	ENST00000369977.3	37	c.2389	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270669	0.80469	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.53	4.65	0.58169	.	0.054833	0.85682	N	0.000000	T	0.81370	0.4808	M	0.86651	2.83	0.80722	D	1	D;P	0.63046	0.992;0.933	P;D	0.63381	0.751;0.914	D	0.85201	0.1015	10	0.59425	D	0.04	.	16.2059	0.82131	0.0:0.8667:0.1332:0.0	.	797;797	Q9UM54-2;Q9UM54-1	.;.	E	797	ENSP00000358998:Q797E;ENSP00000359002:Q797E;ENSP00000358994:Q797E;ENSP00000358992:Q797E	ENSP00000358992:Q797E	Q	+	1	0	MYO6	76648228	1.000000	0.71417	0.975000	0.42487	0.791000	0.44710	5.753000	0.68736	1.294000	0.44707	0.655000	0.94253	CAG	MYO6	-	superfamily_P-loop_NTPase	ENSG00000196586		0.423	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	-	0	118	0	C	NM_004999		76591508	1	tier1	-	no_errors	ENST00000369981	ensembl	human	known	74_37	missense	44.30	44	35	SNP	1.000	G	G	76591508	C	G	76591508	3	3	125	1	0	0	0	0	1	0	0	0	10119	827	29	5	2475	5	MYO6	6	76591508	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	50320151	76591508	94523559	39	32319											
KIAA1009	22832	genome.wustl.edu	37	chr6	84872950	84872950	+	Missense_Mutation	SNP	T	T	G	0	1	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	aagagcttgtttgtcttgttTcagtcttttgatgtcttcca	6	20	8	7	0	4	2	1	1	3	1	5	2	5	2	1	0	1	3	1	0	1	7			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr6:84872950T>G	ENST00000403245.3	-	19	2539	c.2425A>C	c.(2425-2427)Aaa>Caa	p.K809Q	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.K733Q	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)		TTGTCTTGTTTCAGTCTTTTG	0.328																																																	0													224	203	210					6																	84872950		2203	4300	6503	SO:0001583	missense	0																														ENST00000403245.3:c.2425A>C	6.37:g.84872950T>G	ENSP00000385215:p.Lys809Gln			Missense_Mutation	SNP	NULL	p.K809Q	ENST00000403245.3	37	c.2425	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912781	0.72983	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.31247	1.5;1.5	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000002	T	0.48314	0.1493	M	0.80847	2.515	0.42326	D	0.992272	D	0.89917	1.0	D	0.85130	0.997	T	0.50890	-0.8774	10	0.39692	T	0.17	-18.6686	15.0022	0.71483	0.0:0.0:0.0:1.0	.	809	Q5TB80	QN1_HUMAN	Q	733;809	ENSP00000257766:K733Q;ENSP00000385215:K809Q	ENSP00000257766:K733Q	K	-	1	0	KIAA1009	84929669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.642000	0.74329	1.993000	0.58246	0.460000	0.39030	AAA	KIAA1009	-	NULL	ENSG00000135315		0.328	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	-	0	130	0	T			84872950	-1	tier1	-	no_errors	ENST00000403245	ensembl	human	known	74_37	missense	9.57	84	9	SNP	1.000	G	G	84872950	T	G	84872950	3	3	125	1	0	0	0	0	1	0	0	0	8230	1792	62	4	1822	4	KIAA1009	6	84872950	Missense_Mutation	SNP	T	TCGA-LN-A7HW-01A-22D-A351-09	8281442	84872950	86242117	40	32320											
UTRN	7402	genome.wustl.edu	37	chr6	144844281	144844281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacacttactcagctgaatGcaaaatgggacagaattaat	17	10	7	7	0	1	2	1	1	0	1	1	3	1	3	0	1	4	2	0	1	7	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr6:144844281G>A	ENST00000367545.3	+	40	5863	c.5863G>A	c.(5863-5865)Gca>Aca	p.A1955T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1955					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)		TCAGCTGAATGCAAAATGGGA	0.383																																																	0													92	87	89					6																	144844281		2203	4300	6503	SO:0001583	missense	0			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.5863G>A	6.37:g.144844281G>A	ENSP00000356515:p.Ala1955Thr		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.A1955T	ENST00000367545.3	37	c.5863	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110212	0.56398	.	.	ENSG00000152818	ENST00000367545	T	0.34667	1.35	5.65	4.76	0.60689	.	0.247257	0.28343	N	0.015687	T	0.19287	0.0463	M	0.63428	1.95	0.80722	D	1	B	0.30634	0.288	B	0.29524	0.103	T	0.07290	-1.0780	10	0.11794	T	0.64	.	15.8365	0.78801	0.0:0.0:0.8631:0.1368	.	1955	P46939	UTRO_HUMAN	T	1955	ENSP00000356515:A1955T	ENSP00000356515:A1955T	A	+	1	0	UTRN	144885974	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.265000	0.65519	1.342000	0.45619	0.591000	0.81541	GCA	UTRN	-	pirsf_Dystrophin/utrophin	ENSG00000152818		0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	-	0	54	0	G			144844281	1	tier1	-	no_errors	ENST00000367545	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A	A	144844281	G	A	144844281	3	1	125	1	0	0	0	0	1	0	0	0	17152	1319	46	3	6021	3	UTRN	6	144844281	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	59971331	144844281	26270786	41	32321											
COL28A1	340267	genome.wustl.edu	37	chr7	7413142	7413142	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcgatcacaaacaccaGctctagtggagtctctttgc	9	11	9	12	1	3	0	1	0	2	0	5	2	3	1	1	1	3	2	1	1	2	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:7413142G>T	ENST00000399429.3	-	32	2535	c.2395C>A	c.(2395-2397)Ctg>Atg	p.L799M		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	799	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)		ACAAACACCAGCTCTAGTGGA	0.453																																																	0													82	83	82					7																	7413142		1861	4099	5960	SO:0001583	missense	0			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.2395C>A	7.37:g.7413142G>T	ENSP00000382356:p.Leu799Met		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.L799M	ENST00000399429.3	37	c.2395	CCDS43553.1	7	.	.	.	.	.	.	.	.	.	.	G	17.56	3.421204	0.62622	.	.	ENSG00000215018	ENST00000399429	D	0.86432	-2.12	4.44	3.5	0.40072	von Willebrand factor, type A (3);	0.236112	0.27172	U	0.020581	D	0.92312	0.7561	M	0.83852	2.665	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	D	0.90606	0.4548	10	0.34782	T	0.22	-4.7329	9.7984	0.40748	0.1118:0.0:0.8882:0.0	.	799	Q2UY09	COSA1_HUMAN	M	799	ENSP00000382356:L799M	ENSP00000382356:L799M	L	-	1	2	COL28A1	7379667	1.000000	0.71417	0.972000	0.41901	0.775000	0.43874	5.394000	0.66285	1.060000	0.40578	0.655000	0.94253	CTG	COL28A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000215018		0.453	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	HGNC	protein_coding	OTTHUMT00000315899.1		0	51	0	G	NM_001037763		7413142	-1			no_errors	ENST00000399429	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	7413142	G	T	7413142	3	4	125	1	0	0	0	0	1	0	0	0	3693	962	34	3	998	3	COL28A1	7	7413142	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		7413142	151725521	42	32322											
TWISTNB	221830	genome.wustl.edu	37	chr7	19748587	19748587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccagcctgccctaccagaGacccatcagaagccgccgct	9	4	9	19	3	1	2	1	0	0	2	1	3	1	2	7	0	4	1	7	0	2	1	rs146649877	byFrequency	TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:19748587G>C	ENST00000222567.5	-	1	123	c.53C>G	c.(52-54)tCt>tGt	p.S18C		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	18					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CCCTACCAGAGACCCATCAGA	0.647											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													24	25	25					7																	19748587		2192	4289	6481	SO:0001583	missense	0			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.53C>G	7.37:g.19748587G>C	ENSP00000222567:p.Ser18Cys	735	A0PJ45|B7Z724	Missense_Mutation	SNP	pfam_RNA_pol_Rpb7_N	p.S18C	ENST00000222567.5	37	c.53	CCDS34606.1	7	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864894	0.32977	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.3	-1.61	0.08399	.	0.558034	0.17961	N	0.156173	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11203	-1.0597	9	0.66056	D	0.02	2.8252	3.0586	0.06193	0.1627:0.2488:0.4617:0.1268	.	18	Q3B726	RPA43_HUMAN	C	18	.	ENSP00000222567:S18C	S	-	2	0	TWISTNB	19715112	0.002000	0.14202	0.000000	0.03702	0.078000	0.17371	0.419000	0.21247	-0.102000	0.12197	0.655000	0.94253	TCT	TWISTNB	-	NULL	ENSG00000105849		0.647	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWISTNB	HGNC	protein_coding	OTTHUMT00000326463.1	-	0	36	0	G			19748587	-1	tier1	-	no_errors	ENST00000222567	ensembl	human	known	74_37	missense	35.14	24	13	SNP	0.001	C	C	19748587	G	C	19748587	3	2	125	1	0	0	0	0	1	0	0	0	16833	942	33	5	979	5	TWISTNB	7	19748587	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	12335445	19748587	139390076	43	32323											
CCDC146	57639	genome.wustl.edu	37	chr7	76908384	76908384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgtcattaaatgaacttGaaattctgagaaatagtgcc	17	12	7	5	0	2	3	1	3	1	1	2	4	2	3	1	0	2	0	1	0	7	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:76908384G>C	ENST00000285871.4	+	13	1787	c.1660G>C	c.(1660-1662)Gaa>Caa	p.E554Q	CCDC146_ENST00000431197.1_Missense_Mutation_p.E268Q|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	554										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)				AAATGAACTTGAAATTCTGAG	0.294																																																	0													67	66	66					7																	76908384		2202	4300	6502	SO:0001583	missense	0			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.1660G>C	7.37:g.76908384G>C	ENSP00000285871:p.Glu554Gln		A8K8X6|Q9P223	Missense_Mutation	SNP	NULL	p.E554Q	ENST00000285871.4	37	c.1660	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289296	0.80914	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.36520	1.25;1.25	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	L	0.52759	1.655	0.53005	D	0.999967	D;D	0.65815	0.995;0.991	P;P	0.60173	0.87;0.861	T	0.34625	-0.9821	10	0.26408	T	0.33	-20.5612	18.6355	0.91376	0.0:0.0:1.0:0.0	.	268;554	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	Q	554;268	ENSP00000285871:E554Q;ENSP00000413885:E268Q	ENSP00000285871:E554Q	E	+	1	0	AC007000.1	76746320	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.192000	0.58378	2.474000	0.83562	0.563000	0.77884	GAA	CCDC146	-	NULL	ENSG00000135205		0.294	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	-	0	150	0	G	NM_020879		76908384	1	tier1	-	no_errors	ENST00000285871	ensembl	human	known	74_37	missense	42.06	73	53	SNP	1.000	C	C	76908384	G	C	76908384	3	2	125	1	0	0	0	0	1	0	0	0	2787	1291	45	5	1706	5	CCDC146	7	76908384	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	57159797	76908384	82230279	44	32324											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121650679	121650679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcagactgtgactgaactgCcacctcacactgtggaaggt	10	9	10	12	0	2	3	2	2	0	1	2	4	2	4	2	2	2	0	2	2	2	0			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:121650679C>T	ENST00000393386.2	+	12	1990	c.1579C>T	c.(1579-1581)Cca>Tca	p.P527S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P527S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	527					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						GACTGAACTGCCACCTCACAC	0.413																																																	0													83	79	80					7																	121650679		2203	4300	6503	SO:0001583	missense	0			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.1579C>T	7.37:g.121650679C>T	ENSP00000377047:p.Pro527Ser		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.P527S	ENST00000393386.2	37	c.1579	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	1.991	-0.431683	0.04669	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.49139	0.79;0.88	5.08	4.2	0.49525	.	0.507119	0.19533	N	0.111988	T	0.65354	0.2683	M	0.65975	2.015	0.19300	N	0.99997	B;D	0.89917	0.003;1.0	B;D	0.83275	0.003;0.996	T	0.57505	-0.7800	10	0.41790	T	0.15	.	13.6211	0.62138	0.0:0.9235:0.0:0.0765	.	527;527	C9JFM0;P23471	.;PTPRZ_HUMAN	S	527	ENSP00000377047:P527S;ENSP00000410000:P527S	ENSP00000377047:P527S	P	+	1	0	PTPRZ1	121437915	0.027000	0.19231	0.037000	0.18230	0.125000	0.20455	1.159000	0.31749	1.472000	0.48140	-0.137000	0.14449	CCA	PTPRZ1	-	NULL	ENSG00000106278		0.413	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0	76	0	C	NM_002851		121650679	1	tier1	-	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.267	T	T	121650679	C	T	121650679	3	4	125	1	0	0	0	0	1	0	0	0	12859	739	26	3	1625	3	PTPRZ1	7	121650679	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	44742295	121650679	37487984	45	32325											
PLXNA4	91584	genome.wustl.edu	37	chr7	131908323	131908323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccttcctggaaggagcagGtcttggggtcatgggtgcag	6	9	18	8	0	2	0	1	0	1	0	3	2	3	2	2	7	2	2	2	7	1	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:131908323G>A	ENST00000359827.3	-	9	3022	c.2060C>T	c.(2059-2061)aCc>aTc	p.T687I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T687I			Q9HCM2	PLXA4_HUMAN	plexin A4	687	PSI 2.				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						GAAGGAGCAGGTCTTGGGGTC	0.602																																																	0													44	47	46					7																	131908323		2065	4238	6303	SO:0001583	missense	0			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.2060C>T	7.37:g.131908323G>A	ENSP00000352882:p.Thr687Ile		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.T687I	ENST00000359827.3	37	c.2060	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081295	0.36758	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.17370	2.28;2.28	5.8	5.8	0.92144	.	0.099077	0.64402	D	0.000002	T	0.19287	0.0463	L	0.50333	1.59	0.44771	D	0.997771	B	0.22851	0.076	B	0.22386	0.039	T	0.01349	-1.1378	10	0.40728	T	0.16	.	15.2975	0.73922	0.0:0.0:0.8593:0.1407	.	687	Q9HCM2	PLXA4_HUMAN	I	687	ENSP00000323194:T687I;ENSP00000352882:T687I	ENSP00000323194:T687I	T	-	2	0	PLXNA4	131558863	0.919000	0.31177	0.883000	0.34634	0.749000	0.42624	1.397000	0.34543	2.755000	0.94549	0.655000	0.94253	ACC	PLXNA4	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000221866		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	88	0	G	NM_181775		131908323	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	44.94	49	40	SNP	0.909	A	A	131908323	G	A	131908323	3	1	125	1	0	0	0	0	1	0	0	0	12161	1261	44	3	3720	3	PLXNA4	7	131908323	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	10257644	131908323	27230340	46	32326											
TBXAS1	6916	genome.wustl.edu	37	chr7	139653225	139653225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcatttaaaacgctatgCggaatctggggacgcatttg	10	11	12	8	3	2	0	1	0	1	0	2	2	2	2	0	4	2	3	0	4	4	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:139653225C>T	ENST00000336425.5	+	10	898	c.509C>T	c.(508-510)gCg>gTg	p.A170V	TBXAS1_ENST00000414508.2_Missense_Mutation_p.A171V|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A171V|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A170V|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A103V|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A217V|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A170V|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A216V|TBXAS1_ENST00000263552.6_Missense_Mutation_p.A171V			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	170					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	AAACGCTATGCGGAATCTGGG	0.458																																																	0													124	112	116					7																	139653225		2203	4300	6503	SO:0001583	missense	0			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.509C>T	7.37:g.139653225C>T	ENSP00000338087:p.Ala170Val		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.A217V	ENST00000336425.5	37	c.650		7	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208204	0.58343	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.43	4.55	0.56014	.	0.051405	0.85682	D	0.000000	T	0.73009	0.3532	M	0.64997	1.995	0.80722	D	1	P;P;B;D;B;P;P	0.63880	0.927;0.716;0.197;0.993;0.226;0.907;0.907	P;B;B;P;B;B;B	0.53912	0.647;0.408;0.137;0.737;0.185;0.305;0.305	T	0.71404	-0.4603	10	0.26408	T	0.33	.	15.9924	0.80217	0.0:0.865:0.135:0.0	.	151;217;122;103;171;171;170	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	V	103;171;170;217;171;171;170;216;170	ENSP00000388736:A103V;ENSP00000263552:A171V;ENSP00000338087:A170V;ENSP00000389414:A217V;ENSP00000392361:A171V;ENSP00000392702:A171V;ENSP00000402536:A170V;ENSP00000411274:A216V;ENSP00000411326:A170V	ENSP00000263552:A171V	A	+	2	0	TBXAS1	139299694	1.000000	0.71417	0.051000	0.19133	0.517000	0.34286	4.846000	0.62860	1.291000	0.44653	-0.150000	0.13652	GCG	TBXAS1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000059377		0.458	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	TBXAS1	HGNC	protein_coding	OTTHUMT00000348373.1		0	64	0	C			139653225	1			no_errors	ENST00000416849	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.999	T	T	139653225	C	T	139653225	3	4	125	1	0	0	0	0	1	0	0	0	15711	768	27	1	676	1	TBXAS1	7	139653225	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	7744902	139653225	19485438	47	32327											
MGAM	8972	genome.wustl.edu	37	chr7	141708393	141708393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tggtaccacacatgctaggaCaacgggtcccccagatcctg	10	7	10	14	1	0	1	0	0	0	1	2	2	2	2	4	3	3	2	4	3	3	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:141708393C>T	ENST00000549489.2	+	3	310	c.215C>T	c.(214-216)aCa>aTa	p.T72I	MGAM_ENST00000475668.2_Missense_Mutation_p.T72I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	72	Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATGCTAGGACAACGGGTCCC	0.512																																																	0													87	83	84					7																	141708393		1873	4109	5982	SO:0001583	missense	0			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.215C>T	7.37:g.141708393C>T	ENSP00000447378:p.Thr72Ile		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.T72I	ENST00000549489.2	37	c.215	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	C	5.078	0.200005	0.09652	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;D;T	0.90004	-0.83;-2.6;0.56	1.22	1.22	0.21188	.	3.671100	0.00855	N	0.001868	T	0.79936	0.4532	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67094	-0.5757	10	0.30854	T	0.27	.	5.8183	0.18514	0.0:1.0:0.0:0.0	.	72	O43451	MGA_HUMAN	I	72	ENSP00000419372:T72I;ENSP00000447378:T72I;ENSP00000417103:T72I	ENSP00000373973:T72I	T	+	2	0	MGAM	141354862	0.001000	0.12720	0.007000	0.13788	0.010000	0.07245	0.148000	0.16224	0.971000	0.38288	0.655000	0.94253	ACA	MGAM	-	NULL	ENSG00000257335		0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0	129	0	C			141708393	1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	38.06	96	59	SNP	0.008	T	T	141708393	C	T	141708393	3	4	125	1	0	0	0	0	1	0	0	0	9579	478	17	3	221	3	MGAM	7	141708393	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	2055168	141708393	17430270	48	32328											
RHEB	6009	genome.wustl.edu	37	chr7	151167700	151167700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaaagctgcattccaaGattctgccaaagctttccct	13	10	5	13	0	1	1	0	0	1	1	3	1	3	1	4	0	4	3	4	0	5	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:151167700G>T	ENST00000262187.5	-	7	831	c.419C>A	c.(418-420)tCt>tAt	p.S140Y	RHEB_ENST00000472642.1_Missense_Mutation_p.S35Y|RHEB_ENST00000496004.1_Missense_Mutation_p.S35Y	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	140					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)			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)		TGCATTCCAAGATTCTGCCAA	0.338																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)												0													73	74	74					7																	151167700		2202	4298	6500	SO:0001583	missense	0			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.419C>A	7.37:g.151167700G>T	ENSP00000262187:p.Ser140Tyr		B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S140Y	ENST00000262187.5	37	c.419	CCDS5927.1	7	.	.	.	.	.	.	.	.	.	.	G	17.58	3.426128	0.62733	.	.	ENSG00000106615	ENST00000262187;ENST00000472642;ENST00000496004	T;T;T	0.78364	-1.17;-1.17;-1.17	4.9	4.9	0.64082	Small GTP-binding protein domain (1);	0.059442	0.64402	D	0.000001	T	0.79227	0.4410	M	0.72624	2.21	0.80722	D	1	B	0.26195	0.144	B	0.30105	0.111	T	0.79470	-0.1790	10	0.72032	D	0.01	.	17.4241	0.87522	0.0:0.0:1.0:0.0	.	140	Q15382	RHEB_HUMAN	Y	140;35;35	ENSP00000262187:S140Y;ENSP00000420726:S35Y;ENSP00000418161:S35Y	ENSP00000262187:S140Y	S	-	2	0	RHEB	150798633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.611000	0.98342	2.429000	0.82318	0.591000	0.81541	TCT	RHEB	-	pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000106615		0.338	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHEB	HGNC	protein_coding	OTTHUMT00000348468.2		0	55	0	G	NM_005614		151167700	-1			no_errors	ENST00000262187	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	151167700	G	T	151167700	3	4	125	1	0	0	0	0	1	0	0	0	13373	942	33	3	143	3	RHEB	7	151167700	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	9459307	151167700	7970963	49	32329											
SOX7	83595	genome.wustl.edu	37	chr8	10583327	10583327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtctctgtgggacccGttggtgtcacctgggagacc	4	10	16	11	1	2	1	1	0	1	1	3	3	2	2	3	5	0	2	3	5	0	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr8:10583327G>T	ENST00000304501.1	-	2	1166	c.1088C>A	c.(1087-1089)aCg>aAg	p.T363K	SOX7_ENST00000553390.1_Missense_Mutation_p.T415K|SOX7_ENST00000554914.1_Missense_Mutation_p.T415K	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	363	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TGTGGGACCCGTTGGTGTCAC	0.607																																																	0													75	69	71					8																	10583327		2203	4300	6503	SO:0001583	missense	0			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.1088C>A	8.37:g.10583327G>T	ENSP00000301921:p.Thr363Lys		B4DKV0|Q53YD0	Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom	p.T415K	ENST00000304501.1	37	c.1244	CCDS5977.1	8	.	.	.	.	.	.	.	.	.	.	G	0.079	-1.186963	0.01620	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	T;T;T	0.76186	-1.0;-1.0;-1.0	4.64	1.6	0.23607	.	0.351667	0.30565	U	0.009348	T	0.51568	0.1682	N	0.22421	0.69	0.09310	N	1	B;B	0.25609	0.13;0.027	B;B	0.28232	0.067;0.087	T	0.31613	-0.9937	10	0.07813	T	0.8	.	5.0868	0.14687	0.0825:0.2853:0.5012:0.131	.	415;363	B4DKV0;Q9BT81	.;SOX7_HUMAN	K	363;415;415	ENSP00000301921:T363K;ENSP00000452017:T415K;ENSP00000451145:T415K	ENSP00000346908:T415K	T	-	2	0	SOX7;CTD-2135J3.4	10620737	0.001000	0.12720	0.001000	0.08648	0.768000	0.43524	0.994000	0.29693	0.519000	0.28406	0.561000	0.74099	ACG	SOX7	-	pfam_Sox_C_TAD	ENSG00000171056		0.607	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	HGNC	protein_coding	OTTHUMT00000207131.1		0	87	0	G			10583327	-1			no_errors	ENST00000553390	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.000	T	T	10583327	G	T	10583327	3	4	125	1	0	0	0	0	1	0	0	0	15001	1145	40	2	82	2	SOX7	8	10583327	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		10583327	135780695	50	32330											
EPB49	2039	genome.wustl.edu	37	chr8	21925182	21925182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaacacgtggagctgcctCgcagccgcgaggtgaggggg	7	5	19	10	4	0	1	0	1	0	0	1	4	0	3	2	5	4	2	2	5	1	0			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr8:21925182C>T	ENST00000523266.1	+	4	700	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	DMTN_ENST00000358242.3_Missense_Mutation_p.R80C|DMTN_ENST00000523782.2_Missense_Mutation_p.R55C|DMTN_ENST00000517600.1_Missense_Mutation_p.R55C|DMTN_ENST00000443491.2_Missense_Mutation_p.R55C|DMTN_ENST00000519907.1_Missense_Mutation_p.R80C|DMTN_ENST00000415253.1_Missense_Mutation_p.R80C|DMTN_ENST00000381470.3_Missense_Mutation_p.R80C|DMTN_ENST00000432128.1_Missense_Mutation_p.R80C|DMTN_ENST00000265800.5_Missense_Mutation_p.R80C	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	80					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)										GGAGCTGCCTCGCAGCCGCGA	0.652																																																	0													67	63	64					8																	21925182		2203	4300	6503	SO:0001583	missense	0			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.238C>T	8.37:g.21925182C>T	ENSP00000427866:p.Arg80Cys		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.R80C	ENST00000523266.1	37	c.238	CCDS6020.1	8	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003329	0.74932	.	.	ENSG00000158856	ENST00000522148;ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	1.01;1.49;1.01;1.01;1.01;1.01;0.85;1.49;1.49;1.49;1.01;1.49;1.01;1.01;1.01;1.01	5.41	0.144	0.14824	.	0.216229	0.31685	N	0.007221	T	0.61248	0.2332	L	0.54323	1.7	0.48087	D	0.999585	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;0.999;0.997	D;D;P;P;P;P	0.79784	0.993;0.993;0.72;0.828;0.72;0.799	T	0.64360	-0.6426	10	0.72032	D	0.01	.	15.195	0.73081	0.2469:0.7531:0.0:0.0	.	19;55;80;55;55;80	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	C	55;55;80;80;80;55;55;55;55;55;80;80;19;80;80;80;80;80	ENSP00000428063:R55C;ENSP00000429116:R55C;ENSP00000430600:R80C;ENSP00000370879:R80C;ENSP00000416111:R80C;ENSP00000397904:R55C;ENSP00000430618:R55C;ENSP00000428733:R55C;ENSP00000430382:R55C;ENSP00000428415:R80C;ENSP00000265800:R80C;ENSP00000429948:R80C;ENSP00000350977:R80C;ENSP00000401291:R80C;ENSP00000427866:R80C;ENSP00000429377:R80C	ENSP00000265800:R80C	R	+	1	0	EPB49	21981128	0.059000	0.20769	0.975000	0.42487	0.887000	0.51463	0.182000	0.16900	0.024000	0.15214	-0.397000	0.06425	CGC	DMTN	-	NULL	ENSG00000158856		0.652	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DMTN	HGNC	protein_coding	OTTHUMT00000375178.1	-	0	44	0	C	NM_001978		21925182	1	tier1	-	no_errors	ENST00000265800	ensembl	human	known	74_37	missense	75.00	4	12	SNP	0.997	T	T	21925182	C	T	21925182	3	4	125	1	0	0	0	0	1	0	0	0	5175	884	31	1	248	1	EPB49	8	21925182	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	11341855	21925182	124438840	51	32331											
CDCA2	157313	genome.wustl.edu	37	chr8	25340994	25340994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaaactgttgcaaagagaAagaagcaggtaagaaattca	19	6	9	7	0	1	3	1	0	0	3	1	4	1	3	1	1	3	4	1	1	6	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr8:25340994A>G	ENST00000330560.3	+	9	1589	c.1112A>G	c.(1111-1113)aAa>aGa	p.K371R	CDCA2_ENST00000380665.3_Missense_Mutation_p.K356R|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	371					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)		TGCAAAGAGAAAGAAGCAGGT	0.308																																																	0													78	76	77					8																	25340994		2203	4298	6501	SO:0001583	missense	0			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.1112A>G	8.37:g.25340994A>G	ENSP00000328228:p.Lys371Arg		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	NULL	p.K371R	ENST00000330560.3	37	c.1112	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.318538	0.01320	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.31510	1.49;1.49	5.19	-7.51	0.01346	.	0.785958	0.11516	N	0.556231	T	0.08179	0.0204	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.32134	-0.9918	10	0.12103	T	0.63	-0.1445	4.6871	0.12762	0.2454:0.1214:0.5139:0.1193	.	371;356;371	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	R	371;356	ENSP00000328228:K371R;ENSP00000370040:K356R	ENSP00000328228:K371R	K	+	2	0	CDCA2	25396911	0.701000	0.27806	0.240000	0.24138	0.002000	0.02628	-0.223000	0.09177	-1.108000	0.03000	-0.280000	0.10049	AAA	CDCA2	-	NULL	ENSG00000184661		0.308	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	HGNC	protein_coding	OTTHUMT00000216891.3	-	0	173	0	A	NM_152562		25340994	1	tier1	-	no_errors	ENST00000330560	ensembl	human	known	74_37	missense	65.14	38	71	SNP	0.090	G	G	25340994	A	G	25340994	3	3	125	1	0	0	0	0	1	0	0	0	3093	14	1	4	1142	4	CDCA2	8	25340994	Missense_Mutation	SNP	A	TCGA-LN-A7HW-01A-22D-A351-09	3415812	25340994	121023028	52	32332											
DPYS	1807	genome.wustl.edu	37	chr8	105405213	105405213	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgagtttttgctgaGatagtcctatatttgtgaaa	11	17	10	3	0	0	5	0	5	0	1	1	6	1	5	1	0	1	2	1	0	4	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr8:105405213G>T	ENST00000351513.2	-	8	1374	c.1242C>A	c.(1240-1242)atC>atA	p.I414I	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	414					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)			TTTTTGCTGAGATAGTCCTAT	0.368																																																	0													66	71	69					8																	105405213		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1242C>A	8.37:g.105405213G>T				Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.I414	ENST00000351513.2	37	c.1242	CCDS6302.1	8																																																																																			DPYS	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000147647		0.368	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	HGNC	protein_coding	OTTHUMT00000380814.1	-	0	67	0	G	NM_001385		105405213	-1	tier1	-	no_errors	ENST00000351513	ensembl	human	known	74_37	silent	10.00	45	5	SNP	1.000	T	T	105405213	G	T	105405213	2	4	125	1	0	0	0	0	0	0	0	1	4760	932	33	3		3	DPYS	8	105405213	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	80064219	105405213	40958809	53	32333											
EPPK1	83481	genome.wustl.edu	37	chr8	144940622	144940622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgacgaagccggtggccGcctgcgcctccagcagcacc	7	4	13	17	5	0	1	0	1	0	0	1	3	1	1	6	2	4	2	6	2	1	0			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr8:144940622G>A	ENST00000525985.1	-	2	6871	c.6800C>T	c.(6799-6801)gCg>gTg	p.A2267V				P58107	EPIPL_HUMAN	epiplakin 1	2267						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.A2267G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCGGTGGCCGCCTGCGCCTC	0.711																																																	1	Substitution - Missense(1)	skin(1)											36	35	35					8																	144940622		2144	4238	6382	SO:0001583	missense	0			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.6800C>T	8.37:g.144940622G>A	ENSP00000436337:p.Ala2267Val		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.A2267V	ENST00000525985.1	37	c.6800		8	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028791	0.93518	.	.	ENSG00000227184	ENST00000525985	T	0.70399	-0.48	4.67	4.67	0.58626	.	.	.	.	.	D	0.82375	0.5023	M	0.79123	2.44	0.51012	D	0.999902	D	0.89917	1.0	D	0.97110	1.0	T	0.79533	-0.1764	9	0.19147	T	0.46	.	15.1226	0.72457	0.0:0.0:1.0:0.0	.	2267	E9PPU0	.	V	2267	ENSP00000436337:A2267V	ENSP00000436337:A2267V	A	-	2	0	EPPK1	145012610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.583000	0.98217	2.420000	0.82092	0.591000	0.81541	GCG	EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000227184		0.711	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0	70	0	G	NM_031308		144940622	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	15.38	94	18	SNP	1.000	A	A	144940622	G	A	144940622	3	1	125	1	0	0	0	0	1	0	0	0	5206	1087	38	1	466	1	EPPK1	8	144940622	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	39535409	144940622	1423400	54	32334											
CHMP5	51510	genome.wustl.edu	37	chr9	33266059	33266059	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttctcgattggatgctGagctagtgaagtataaggat	12	13	12	4	1	1	3	0	2	1	1	2	6	1	5	0	2	2	3	0	2	4	5			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:33266059G>T	ENST00000223500.8	+	2	258	c.121G>T	c.(121-123)Gag>Tag	p.E41*	BAG1_ENST00000472232.3_5'Flank|CHMP5_ENST00000419016.2_Nonsense_Mutation_p.E41*|BAG1_ENST00000379704.2_5'Flank	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	41					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			ATTGGATGCTGAGCTAGTGAA	0.448																																																	0													91	83	85					9																	33266059		2203	4299	6502	SO:0001587	stop_gained	0			AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"Charged multivesicular body proteins"	26942	protein-coding gene	gene with protein product		610900	"chromosome 9 open reading frame 83", "chromatin modifying protein 5"	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765	ENST00000223500.8:c.121G>T	9.37:g.33266059G>T	ENSP00000223500:p.Glu41*		B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Nonsense_Mutation	SNP	pfam_Snf7	p.E41*	ENST00000223500.8	37	c.121	CCDS6537.1	9	.	.	.	.	.	.	.	.	.	.	G	38	6.811485	0.97857	.	.	ENSG00000086065	ENST00000223500;ENST00000419016	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.5265	17.0103	0.86404	0.0:0.0:1.0:0.0	.	.	.	.	X	41	.	ENSP00000223500:E41X	E	+	1	0	CHMP5	33256059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.349000	0.97066	2.610000	0.88304	0.462000	0.41574	GAG	CHMP5	-	pfam_Snf7	ENSG00000086065		0.448	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP5	HGNC	protein_coding	OTTHUMT00000052040.3	-	0	55	0	G	NM_016410		33266059	1	tier1	-	no_errors	ENST00000223500	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	T	T	33266059	G	T	33266059	4	4	125	1	0	0	0	0	0	1	0	0	3366	1291	45	3	127	3	CHMP5	9	33266059	Nonsense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		33266059	107947372	55	32335											
FAM75C1	441452	genome.wustl.edu	37	chr9	90534190	90534191	+	RNA	INS	-	-	C																															gtcatcttgtctcccagcgtINScatcttgtctcccagtgtcc																										TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:90534190_90534191insC	ENST00000602681.1	+	0	936_937							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTCCCAGCGTCATCTTGTCTC	0.604																																																	0																																												0			AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534191_90534191dupC				RNA	INS	-	NULL	ENST00000602681.1	37	NULL		9																																																																																			SPATA31C1	-	-	ENSG00000230246		0.604	SPATA31C1-002	KNOWN	basic	processed_transcript	SPATA31C1	HGNC	pseudogene	OTTHUMT00000467313.1		0	17	0	-	NM_001145124		90534191	1	tier1		no_errors	ENST00000602681	ensembl	human	known	74_37	rna	31.58	13	6	INS	0.012:0.016	C	C	90534191	-	C	90534190	6	5	125	0	1	1	1	0	0	0	0	0	5645	1654	58	0		0	FAM75C1	9	90534190	RNA	INS	-	TCGA-LN-A7HW-01A-22D-A351-09	57268131	90534190	50679241	56	32336											
SECISBP2	79048	genome.wustl.edu	37	chr9	91940893	91940893	+	Missense_Mutation	SNP	A	A	G	1	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	atggaactatatcatctgagAtaaaatcagctagaggttca	16	11	8	6	0	4	2	3	1	1	2	4	4	4	3	0	2	2	2	0	2	6	5			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:91940893A>G	ENST00000375807.3	+	4	585	c.514A>G	c.(514-516)Ata>Gta	p.I172V	SECISBP2_ENST00000534113.2_Missense_Mutation_p.I104V|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Missense_Mutation_p.I99V	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	172					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						ATCATCTGAGATAAAATCAGC	0.348																																																	0													110	104	106					9																	91940893		2203	4300	6503	SO:0001583	missense	0			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.514A>G	9.37:g.91940893A>G	ENSP00000364965:p.Ile172Val		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.I172V	ENST00000375807.3	37	c.514	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	A	0.427	-0.905501	0.02453	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113;ENST00000425851	T;T;T;T	0.72167	-0.62;-0.63;-0.63;0.87	4.09	-1.47	0.08772	.	0.946660	0.08834	N	0.886867	T	0.44540	0.1298	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.28850	0.07;0.144;0.225;0.07;0.225	B;B;B;B;B	0.24394	0.024;0.016;0.053;0.016;0.037	T	0.21586	-1.0241	10	0.15952	T	0.53	1.0415	1.2699	0.02019	0.3381:0.3571:0.1082:0.1967	.	192;171;99;172;104	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;.;SEBP2_HUMAN;.	V	172;192;99;104;7	ENSP00000364965:I172V;ENSP00000364959:I99V;ENSP00000436650:I104V;ENSP00000414288:I7V	ENSP00000364959:I99V	I	+	1	0	SECISBP2	91130713	0.013000	0.17824	0.000000	0.03702	0.027000	0.11550	-0.002000	0.12924	-0.362000	0.08113	0.459000	0.35465	ATA	SECISBP2	-	NULL	ENSG00000187742		0.348	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3	-	0	98	0	A	NM_024077		91940893	1	tier1	-	no_errors	ENST00000375807	ensembl	human	known	74_37	missense	63.33	22	38	SNP	0.001	G	G	91940893	A	G	91940893	3	3	125	1	0	0	0	0	1	0	0	0	14051	333	12	4	528	4	SECISBP2	9	91940893	Missense_Mutation	SNP	A	TCGA-LN-A7HW-01A-22D-A351-09	1406703	91940893	49272538	57	32337											
OR13C3	138803	genome.wustl.edu	37	chr9	107298339	107298339	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatttgcaagatggtgtaGaggatgaacatataggagaa	15	11	12	3	0	1	4	1	1	0	3	1	6	1	5	0	3	2	2	0	3	6	5	rs535495429		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:107298339G>C	ENST00000374781.2	-	1	798	c.756C>G	c.(754-756)ctC>ctG	p.L252L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGATGGTGTAGAGGATGAACA	0.423																																					GBM(86;1248 1274 14222 15028 46219)												0													95	93	94					9																	107298339		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.756C>G	9.37:g.107298339G>C			Q5VVG1|Q6IF52	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L252	ENST00000374781.2	37	c.756	CCDS35089.1	9																																																																																			OR13C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000204246		0.423	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	HGNC	protein_coding	OTTHUMT00000053477.2	-	0	65	0	G			107298339	-1	tier1	-	no_errors	ENST00000374781	ensembl	human	known	74_37	silent	32.10	55	26	SNP	0.072	C	C	107298339	G	C	107298339	2	2	125	1	0	0	0	0	0	0	0	1	10974	929	33	5		5	OR13C3	9	107298339	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	15357446	107298339	33915092	58	32338											
ZNF618	114991	genome.wustl.edu	37	chr9	116811401	116811401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacgtgctgtcggagttcGtgatgtcggagatcaggaca	10	9	15	7	4	1	3	1	1	0	2	4	6	1	5	0	3	2	2	0	3	1	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:116811401G>A	ENST00000374126.5	+	15	1918	c.1819G>A	c.(1819-1821)Gtg>Atg	p.V607M	ZNF618_ENST00000288466.7_Missense_Mutation_p.V514M|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	607					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						GTCGGAGTTCGTGATGTCGGA	0.592																																																	0													106	106	106					9																	116811401		2190	4279	6469	SO:0001583	missense	0			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.1819G>A	9.37:g.116811401G>A	ENSP00000363241:p.Val607Met		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V607M	ENST00000374126.5	37	c.1819		9	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440537	0.63067	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21543	2.0;2.0	5.14	5.14	0.70334	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	.	.	.	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.987;0.997;0.998	T	0.52305	-0.8593	9	0.62326	D	0.03	-18.3616	17.9534	0.89061	0.0:0.0:1.0:0.0	.	574;607;514	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	M	607;514	ENSP00000363241:V607M;ENSP00000288466:V514M	ENSP00000288466:V514M	V	+	1	0	ZNF618	115851222	1.000000	0.71417	0.996000	0.52242	0.638000	0.38207	9.132000	0.94455	2.550000	0.86006	0.462000	0.41574	GTG	ZNF618	-	superfamily_RNaseH-like_dom	ENSG00000157657		0.592	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	-	0	20	0	G	XM_054983		116811401	1	tier1	-	no_errors	ENST00000374126	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	A	A	116811401	G	A	116811401	3	1	125	1	0	0	0	0	1	0	0	0	18090	1145	40	1	1594	1	ZNF618	9	116811401	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	9513062	116811401	24402030	59	32339											
OR1B1	347169	genome.wustl.edu	37	chr9	125391770	125391770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctcgagaacccaaggagCaaaaaaaccggagagtgtga	16	4	12	9	2	1	3	0	1	1	2	2	6	1	4	2	2	3	2	2	2	5	0	rs398102330|rs78126045|rs11421222	byFrequency	TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:125391770C>A	ENST00000304833.3	-	1	82	c.45G>T	c.(43-45)ttG>ttT	p.L15F	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ACCCAAGGAGCAAAAAAACCG	0.478																																																	0													86	87	87					9																	125391770		2201	4298	6499	SO:0001583	missense	0			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"GPCR / Class A : Olfactory receptors"	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.45G>T	9.37:g.125391770C>A	ENSP00000303151:p.Leu15Phe		Q6IFN3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L15F	ENST00000304833.3	37	c.45	CCDS35126.1	9	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428405	0.25726	.	.	ENSG00000171484	ENST00000304833	T	0.00596	6.32	4.23	-0.257	0.12979	.	0.000000	0.29924	N	0.010849	T	0.00815	0.0027	L	0.28014	0.82	0.09310	N	1	D	0.63880	0.993	D	0.66351	0.943	T	0.55296	-0.8163	10	0.42905	T	0.14	-2.6684	2.3371	0.04251	0.3701:0.2703:0.2663:0.0933	.	15	Q8NGR6	OR1B1_HUMAN	F	15	ENSP00000303151:L15F	ENSP00000303151:L15F	L	-	3	2	OR1B1	124431591	0.257000	0.24022	0.547000	0.28179	0.260000	0.26232	-0.625000	0.05534	0.133000	0.18654	0.555000	0.69702	TTG	OR1B1	-	NULL	ENSG00000171484		0.478	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1B1	HGNC	protein_coding	OTTHUMT00000053947.2		0	55	0	C	NM_001004450		125391770	-1			no_errors	ENST00000304833	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.004	A	A	125391770	C	A	125391770	3	1	125	1	0	0	0	0	1	0	0	0	10990	709	25	3	914	3	OR1B1	9	125391770	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	8580369	125391770	15821661	60	32340											
NUP188	23511	genome.wustl.edu	37	chr9	131768007	131768007	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgaagtggccccctccttCgggacccttctggccacagt	5	9	10	17	2	1	0	0	0	1	0	4	2	3	1	6	3	0	0	6	3	1	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:131768007C>T	ENST00000372577.2	+	41	4842	c.4821C>T	c.(4819-4821)ttC>ttT	p.F1607F	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1607					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)		p.F1607F(1)		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						CCCCCTCCTTCGGGACCCTTC	0.572																																																	1	Substitution - coding silent(1)	breast(1)											211	204	206					9																	131768007		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4821C>T	9.37:g.131768007C>T			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.F1607	ENST00000372577.2	37	c.4821	CCDS35156.1	9																																																																																			NUP188	-	NULL	ENSG00000095319		0.572	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	-	0	112	0	C			131768007	1	tier1	-	no_errors	ENST00000372577	ensembl	human	known	74_37	silent	44.83	48	39	SNP	0.097	T	T	131768007	C	T	131768007	2	4	125	1	0	0	0	0	0	0	0	1	10797	883	31	1		1	NUP188	9	131768007	Silent	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	6376237	131768007	9445424	61	32341											
FAM78A	286336	genome.wustl.edu	37	chr9	134151335	134151335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccttcttggggatgggcgGcatgaccacctgggccgagg	5	8	16	12	2	1	1	0	1	1	0	2	3	2	2	4	6	0	1	4	6	0	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:134151335G>A	ENST00000372271.3	-	1	599	c.232C>T	c.(232-234)Ccg>Tcg	p.P78S		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	78										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GGGATGGGCGGCATGACCACC	0.632																																																	0													61	55	57					9																	134151335		2203	4300	6503	SO:0001583	missense	0			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.232C>T	9.37:g.134151335G>A	ENSP00000361345:p.Pro78Ser		Q86VQ9|Q9H7P4	Missense_Mutation	SNP	NULL	p.P78S	ENST00000372271.3	37	c.232	CCDS6941.2	9	.	.	.	.	.	.	.	.	.	.	G	33	5.279345	0.95489	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.76666	0.4019	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79112	-0.1937	9	0.72032	D	0.01	-25.3242	17.3899	0.87427	0.0:0.0:1.0:0.0	.	78	Q5JUQ0	FA78A_HUMAN	S	78	.	ENSP00000361345:P78S	P	-	1	0	FAM78A	133141156	1.000000	0.71417	0.998000	0.56505	0.717000	0.41224	9.409000	0.97331	2.422000	0.82143	0.561000	0.74099	CCG	FAM78A	-	NULL	ENSG00000126882		0.632	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	HGNC	protein_coding	OTTHUMT00000054720.1	-	0	67	0	G	NM_033387		134151335	-1	tier1	-	no_errors	ENST00000372271	ensembl	human	known	74_37	missense	5.63	66	4	SNP	1.000	A	A	134151335	G	A	134151335	3	1	125	1	0	0	0	0	1	0	0	0	5648	1203	42	3	627	3	FAM78A	9	134151335	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	2383328	134151335	7062096	62	32342											
DDX50	79009	genome.wustl.edu	37	chr10	70700818	70700818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtttttattccttaagggGtttgtgaccatgactctgga	7	17	11	6	0	1	2	0	2	1	0	2	3	2	3	2	4	0	2	2	4	2	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr10:70700818G>A	ENST00000373585.3	+	13	1865	c.1758G>A	c.(1756-1758)ggG>ggA	p.G586G	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	586						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						TCCTTAAGGGGTTTGTGACCA	0.378																																																	0													74	74	74					10																	70700818		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1758G>A	10.37:g.70700818G>A			Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G586	ENST00000373585.3	37	c.1758	CCDS7283.1	10																																																																																			DDX50	-	pfam_GUCT	ENSG00000107625		0.378	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	-	0	92	0	G	NM_024045		70700818	1	tier1	-	no_errors	ENST00000373585	ensembl	human	known	74_37	silent	60.32	25	38	SNP	0.715	A	A	70700818	G	A	70700818	2	1	125	1	0	0	0	0	0	0	0	1	4377	1248	44	3		3	DDX50	10	70700818	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		70700818	64833929	63	32343											
PSD	5662	genome.wustl.edu	37	chr10	104176706	104176706	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggggctctggggcacCgggccttcggggagccagcg	3	5	21	12	3	1	0	0	0	1	0	2	1	1	1	3	8	2	3	3	8	0	1	rs371738181		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr10:104176706C>T	ENST00000020673.5	-	2	616	c.90G>A	c.(88-90)ccG>ccA	p.P30P	FBXL15_ENST00000224862.3_5'Flank|FBXL15_ENST00000369956.2_5'Flank|PSD_ENST00000406432.1_Silent_p.P30P|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	30	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)		TCTGGGGCACCGGGCCTTCGG	0.697																																																	0								C		0,4352		0,0,2176	18	20	19		90	-9.1	0	10		19	1,8533		0,1,4266	no	coding-synonymous	PSD	NM_002779.3		0,1,6442	TT,TC,CC		0.0117,0.0,0.0078		30/1025	104176706	1,12885	2176	4267	6443	SO:0001819	synonymous_variant	0			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.90G>A	10.37:g.104176706C>T			B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.P30	ENST00000020673.5	37	c.90	CCDS31272.1	10																																																																																			PSD	-	NULL	ENSG00000059915		0.697	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	-	0	59	0	C			104176706	-1	tier1	-	no_errors	ENST00000020673	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.001	T	T	104176706	C	T	104176706	2	4	125	1	0	0	0	0	0	0	0	1	12688	639	23	1		1	PSD	10	104176706	Silent	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	33475888	104176706	31358041	64	32344											
TECTB	6975	genome.wustl.edu	37	chr10	114063043	114063043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctccaccacctcatcatGatgttggggatttgtgccgt	6	14	10	11	1	3	1	2	1	1	0	4	2	3	2	4	2	1	2	4	2	0	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr10:114063043G>A	ENST00000369422.3	+	10	963	c.963G>A	c.(961-963)atG>atA	p.M321I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	321						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		ACCTCATCATGATGTTGGGGA	0.498																																																	0													244	205	218					10																	114063043		2203	4300	6503	SO:0001583	missense	0			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.963G>A	10.37:g.114063043G>A	ENSP00000358430:p.Met321Ile		Q5VW53	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.M321I	ENST00000369422.3	37	c.963	CCDS7571.1	10	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269609	0.23221	.	.	ENSG00000119913	ENST00000369422	T	0.72835	-0.69	5.78	4.82	0.62117	.	1.064660	0.07185	N	0.854679	T	0.54271	0.1848	N	0.08118	0	0.21499	N	0.999663	B	0.02656	0.0	B	0.01281	0.0	T	0.33033	-0.9884	10	0.44086	T	0.13	.	12.1365	0.53974	0.0:0.2483:0.7517:0.0	.	321	Q96PL2	TECTB_HUMAN	I	321	ENSP00000358430:M321I	ENSP00000358430:M321I	M	+	3	0	TECTB	114053033	1.000000	0.71417	0.977000	0.42913	0.334000	0.28698	2.300000	0.43620	2.894000	0.99253	0.655000	0.94253	ATG	TECTB	-	NULL	ENSG00000119913		0.498	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECTB	HGNC	protein_coding	OTTHUMT00000050381.1	-	0	149	0	G	NM_058222		114063043	1	tier1	-	no_errors	ENST00000369422	ensembl	human	known	74_37	missense	54.84	42	51	SNP	0.988	A	A	114063043	G	A	114063043	3	1	125	1	0	0	0	0	1	0	0	0	15795	1290	45	3	1001	3	TECTB	10	114063043	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	9886337	114063043	21471704	65	32345											
CYP2E1	1571	genome.wustl.edu	37	chr10	135351256	135351256	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtctttgtttctcctaggGcacagtcgtagtgccaactc	7	13	9	12	1	2	0	0	0	2	0	5	0	2	0	2	1	2	3	2	1	3	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr10:135351256G>A	ENST00000463117.2	+	10	1429	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	CYP2E1_ENST00000252945.3_Splice_Site_p.G386D|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	386					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)	TTCTCCTAGGGCACAGTCGTA	0.403									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													87	81	83					10																	135351256		2203	4300	6503	SO:0001630	splice_region_variant	0	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.1156-1G>A	10.37:g.135351256G>A			Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G386D	ENST00000463117.2	37	c.1157	CCDS7686.1	10	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980488	0.34942	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.87	4.87	0.63330	.	0.193227	0.56097	N	0.000040	T	0.81293	0.4792	L	0.49256	1.55	0.38385	D	0.945248	D;P	0.55605	0.972;0.94	P;P	0.54629	0.757;0.539	T	0.83221	-0.0068	10	0.51188	T	0.08	.	15.905	0.79419	0.0:0.0:1.0:0.0	.	282;386	Q59EW1;P05181	.;CP2E1_HUMAN	D	386;386;299;249	ENSP00000440689:G386D;ENSP00000252945:G386D;ENSP00000412754:G299D;ENSP00000397299:G249D	ENSP00000252945:G386D	G	+	2	0	CYP2E1	135201246	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	2.388000	0.44398	2.702000	0.92279	0.650000	0.86243	GGC	CYP2E1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B	ENSG00000130649		0.403	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2	-	0	93	0	G	NM_000773	Missense_Mutation	135351256	1	tier1	-	no_errors	ENST00000252945	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	135351256	G	A	135351256	5	1	125	1	0	0	0	0	0	0	1	0	4179	1217	42	3	1187	3	CYP2E1	10	135351256	Splice_Site	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	21288213	135351256	183491	66	32346											
OSBPL5	114879	genome.wustl.edu	37	chr11	3150332	3150332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgaggggtggaggaaGgtggacacagggagaagcgg	10	6	20	5	1	1	2	0	1	1	1	1	6	1	5	0	8	1	0	0	8	2	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:3150332G>T	ENST00000263650.7	-	2	206	c.47C>A	c.(46-48)cCt>cAt	p.P16H	OSBPL5_ENST00000542243.1_5'UTR|OSBPL5_ENST00000348039.5_Missense_Mutation_p.P16H|OSBPL5_ENST00000525498.1_5'Flank|OSBPL5_ENST00000389989.3_Missense_Mutation_p.P16H	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	16					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)		GGTGGAGGAAGGTGGACACAG	0.642																																																	0													47	38	41					11																	3150332		2199	4296	6495	SO:0001583	missense	0			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.47C>A	11.37:g.3150332G>T	ENSP00000263650:p.Pro16His		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P16H	ENST00000263650.7	37	c.47	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	g	13.07	2.128297	0.37533	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000348039;ENST00000533234;ENST00000526122;ENST00000530372;ENST00000533721;ENST00000534157	T;T;T;T;T;T;T	0.47528	1.52;1.47;1.47;0.9;0.89;0.86;0.84	3.53	3.53	0.40419	.	1.016370	0.07892	U	0.971261	T	0.47820	0.1466	N	0.19112	0.55	0.80722	D	1	P;P;D	0.63880	0.93;0.697;0.993	P;B;P	0.52856	0.533;0.19;0.711	T	0.45760	-0.9239	10	0.72032	D	0.01	0.3973	13.3376	0.60526	0.0:0.0:1.0:0.0	.	16;16;16	E7EP03;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	H	16	ENSP00000263650:P16H;ENSP00000374639:P16H;ENSP00000302872:P16H;ENSP00000436950:P16H;ENSP00000433754:P16H;ENSP00000435812:P16H;ENSP00000432507:P16H	ENSP00000263650:P16H	P	-	2	0	OSBPL5	3106908	0.661000	0.27430	0.014000	0.15608	0.653000	0.38743	3.118000	0.50414	1.535000	0.49220	0.436000	0.28706	CCT	OSBPL5	-	NULL	ENSG00000021762		0.642	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	-	0	75	0	G			3150332	-1	tier1	-	no_errors	ENST00000263650	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.116	T	T	3150332	G	T	3150332	3	4	125	1	0	0	0	0	1	0	0	0	11319	1000	35	3	2676	3	OSBPL5	11	3150332	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		3150332	131856184	67	32347											
AGBL2	79841	genome.wustl.edu	37	chr11	47727462	47727462	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcacagctgaagataaactGataggccctagaaagaggaa	17	6	11	7	0	0	5	0	2	0	3	0	6	0	6	1	2	3	2	1	2	7	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:47727462G>C	ENST00000525123.1	-	5	525	c.240C>G	c.(238-240)atC>atG	p.I80M	AGBL2_ENST00000528244.1_Missense_Mutation_p.I80M|AGBL2_ENST00000298861.4_Missense_Mutation_p.I80M|AGBL2_ENST00000529712.1_Intron|AGBL2_ENST00000357610.3_Missense_Mutation_p.I80M	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	80						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AAGATAAACTGATAGGCCCTA	0.458																																																	0													185	173	177					11																	47727462		2201	4298	6499	SO:0001583	missense	0				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.240C>G	11.37:g.47727462G>C	ENSP00000435582:p.Ile80Met		A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	pfam_Peptidase_M14	p.I80M	ENST00000525123.1	37	c.240	CCDS7944.1	11	.	.	.	.	.	.	.	.	.	.	G	7.379	0.628351	0.14257	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000530577;ENST00000529154	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	3.11	-2.3E-4	0.14039	.	4.758550	0.00531	N	0.000218	T	0.12178	0.0296	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.021;0.005	B;B	0.10450	0.005;0.001	T	0.29671	-1.0004	10	0.66056	D	0.02	3.6042	5.1676	0.15094	0.1248:0.4161:0.4591:0.0	.	80;80	F6U0I4;Q5U5Z8	.;CBPC2_HUMAN	M	80;80;80;80;60;80	ENSP00000435582:I80M;ENSP00000350228:I80M;ENSP00000298861:I80M;ENSP00000436630:I80M;ENSP00000432264:I60M;ENSP00000436518:I80M	ENSP00000298861:I80M	I	-	3	3	AGBL2	47684038	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-0.314000	0.08092	0.010000	0.14839	0.543000	0.68304	ATC	AGBL2	-	NULL	ENSG00000165923		0.458	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	AGBL2	HGNC	protein_coding	OTTHUMT00000383726.2	-	0	151	0	G	NM_024783		47727462	-1	tier1	-	no_errors	ENST00000357610	ensembl	human	known	74_37	missense	32.69	105	51	SNP	0.000	C	C	47727462	G	C	47727462	3	2	125	1	0	0	0	0	1	0	0	0	376	1280	45	5	2528	5	AGBL2	11	47727462	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	44577130	47727462	87279054	68	32348											
CTNND1	1500	genome.wustl.edu	37	chr11	57564314	57564314	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	ggttcgggtaggtgggagcaGcgtggatctgcatcgctttc	5	11	17	8	3	1	0	0	0	1	0	4	2	1	2	0	5	3	5	0	5	1	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:57564314G>C	ENST00000399050.4	+	6	1342	c.806G>C	c.(805-807)aGc>aCc	p.S269T	CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000399039.4_Missense_Mutation_p.S269T|CTNND1_ENST00000530748.1_Missense_Mutation_p.S215T|CTNND1_ENST00000361391.6_Missense_Mutation_p.S269T|CTNND1_ENST00000529986.1_Missense_Mutation_p.S168T|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532649.1_Missense_Mutation_p.S215T|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361796.4_Missense_Mutation_p.S269T|CTNND1_ENST00000530094.1_Missense_Mutation_p.S168T|CTNND1_ENST00000360682.6_Missense_Mutation_p.S269T|CTNND1_ENST00000529526.1_Missense_Mutation_p.S215T|CTNND1_ENST00000528232.1_Missense_Mutation_p.S168T|CTNND1_ENST00000361332.4_Missense_Mutation_p.S269T|CTNND1_ENST00000524630.1_Missense_Mutation_p.S269T|CTNND1_ENST00000428599.2_Missense_Mutation_p.S269T|CTNND1_ENST00000532463.1_Missense_Mutation_p.S168T|CTNND1_ENST00000426142.2_Missense_Mutation_p.S168T|CTNND1_ENST00000532844.1_Missense_Mutation_p.S215T|CTNND1_ENST00000529919.1_Missense_Mutation_p.S269T|CTNND1_ENST00000532787.1_Missense_Mutation_p.S168T|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000534579.1_Missense_Mutation_p.S215T|CTNND1_ENST00000526938.1_Missense_Mutation_p.S269T|CTNND1_ENST00000526357.1_Missense_Mutation_p.S215T|CTNND1_ENST00000358694.6_Missense_Mutation_p.S269T|CTNND1_ENST00000528621.1_Missense_Mutation_p.S215T|CTNND1_ENST00000532245.1_Missense_Mutation_p.S168T|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000415361.2_Missense_Mutation_p.S168T|CTNND1_ENST00000529873.1_Missense_Mutation_p.S215T	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	269					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGTGGGAGCAGCGTGGATCTG	0.542																																																	0													139	149	146					11																	57564314		2131	4250	6381	SO:0001583	missense	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.806G>C	11.37:g.57564314G>C	ENSP00000382004:p.Ser269Thr		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S269T	ENST00000399050.4	37	c.806	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261360	0.39995	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000528232;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71698	-0.23;-0.22;-0.22;-0.59;-0.23;-0.23;-0.14;-0.23;-0.59;-0.23;-0.14;-0.14;-0.23;-0.48;-0.23;-0.23;-0.23;-0.23;-0.14;-0.59;-0.23;-0.23;-0.23;-0.23;-0.14;-0.23;-0.59;2.24	5.92	5.92	0.95590	Armadillo-like helical (1);	0.201190	0.53938	D	0.000048	T	0.49949	0.1587	N	0.14661	0.345	0.30281	N	0.791359	B;B;B;B;B;B;B;B	0.26547	0.152;0.152;0.094;0.152;0.152;0.044;0.152;0.094	B;B;B;B;B;B;B;B	0.18871	0.014;0.023;0.01;0.023;0.023;0.014;0.023;0.006	T	0.46317	-0.9200	10	0.15952	T	0.53	-0.552	11.6196	0.51111	0.1109:0.0:0.8891:0.0	.	269;269;269;215;215;269;269;269	O60716-3;O60716-2;O60716;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.	T	269;269;269;269;269;215;168;269;269;269;168;168;269;168;215;215;215;269;168;215;215;215;168;168;168;215;269;191	ENSP00000436543:S269T;ENSP00000434808:S269T;ENSP00000381996:S269T;ENSP00000353902:S269T;ENSP00000354907:S269T;ENSP00000436323:S215T;ENSP00000409930:S168T;ENSP00000382004:S269T;ENSP00000354785:S269T;ENSP00000354823:S269T;ENSP00000432075:S168T;ENSP00000437156:S168T;ENSP00000351527:S269T;ENSP00000434949:S168T;ENSP00000435379:S215T;ENSP00000432243:S215T;ENSP00000436744:S215T;ENSP00000413586:S269T;ENSP00000435266:S168T;ENSP00000435494:S215T;ENSP00000433276:S215T;ENSP00000433334:S215T;ENSP00000437327:S168T;ENSP00000403518:S168T;ENSP00000434017:S168T;ENSP00000435789:S215T;ENSP00000432041:S269T;ENSP00000434202:S191T	ENSP00000351527:S269T	S	+	2	0	CTNND1	57320890	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	4.805000	0.62561	2.805000	0.96524	0.655000	0.94253	AGC	CTNND1	-	NULL	ENSG00000198561		0.542	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	-	0	90	0	G	NM_001331		57564314	1	tier1	-	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	46.25	43	37	SNP	0.986	C	C	57564314	G	C	57564314	3	2	125	1	0	0	0	0	1	0	0	0	4028	971	34	5	820	5	CTNND1	11	57564314	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	9836852	57564314	77442202	69	32349											
EEF1G	1937	genome.wustl.edu	37	chr11	62327763	62327763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactctcttaccagtgatgaGattgcagctcatgaaggtct	10	12	9	10	0	3	3	1	3	2	1	4	4	3	3	1	1	3	2	1	1	2	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:62327763G>C	ENST00000329251.4	-	8	1151	c.1021C>G	c.(1021-1023)Ctc>Gtc	p.L341V	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.L391V	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	341	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						CCAGTGATGAGATTGCAGCTC	0.498																																																	0													33	30	31					11																	62327763		1982	4161	6143	SO:0001583	missense	0			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.1021C>G	11.37:g.62327763G>C	ENSP00000331901:p.Leu341Val		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con	p.L391V	ENST00000329251.4	37	c.1171	CCDS44626.1	11	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621247	0.66787	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	T;T	0.31247	1.56;1.5	4.7	4.7	0.59300	Translation elongation factor EF1B, gamma chain, conserved (4);	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	H	0.96301	3.8	0.80722	D	1	D;D;D	0.64830	0.989;0.99;0.994	D;D;D	0.97110	0.996;0.994;1.0	T	0.72795	-0.4185	10	0.87932	D	0	.	8.7278	0.34480	0.1008:0.0:0.8992:0.0	.	391;110;341	B4DTG2;B4DUP0;P26641	.;.;EF1G_HUMAN	V	341;391;110	ENSP00000331901:L341V;ENSP00000367258:L391V	ENSP00000331901:L341V	L	-	1	0	EEF1G	62084339	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.616000	0.83018	2.465000	0.83290	0.550000	0.68814	CTC	EEF1G	-	pfam_Transl_elong_EF1_G_con,superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con	ENSG00000254772		0.498	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1G	HGNC	protein_coding	OTTHUMT00000395047.1	-	0	73	0	G	NM_001404		62327763	-1	tier1	-	no_errors	ENST00000378019	ensembl	human	known	74_37	missense	15.58	65	12	SNP	1.000	C	C	62327763	G	C	62327763	3	2	125	1	0	0	0	0	1	0	0	0	4942	942	33	5	304	5	EEF1G	11	62327763	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	4763449	62327763	72678753	70	32350											
SLC22A24	283238	genome.wustl.edu	37	chr11	62911100	62911100	+	Missense_Mutation	SNP	A	A	G	1	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	tgtcattgtccaggagggggAcccagcagcgatgactaggg	9	7	16	9	1	1	1	1	1	0	0	2	4	2	3	2	4	2	1	2	4	1	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:62911100A>G	ENST00000417740.1	-	1	593	c.152T>C	c.(151-153)gTc>gCc	p.V51A	SLC22A24_ENST00000326192.5_Missense_Mutation_p.V51A|SLC22A10_ENST00000525620.1_Intron	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	51					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						CAGGAGGGGGACCCAGCAGCG	0.493																																																	0													123	122	123					11																	62911100		692	1591	2283	SO:0001583	missense	0				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.152T>C	11.37:g.62911100A>G	ENSP00000396586:p.Val51Ala			Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V51A	ENST00000417740.1	37	c.152		11	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548965	0.45383	.	.	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	T;T	0.35605	1.3;1.3	2.29	2.29	0.28610	.	0.475581	0.19204	U	0.120106	T	0.40719	0.1128	L	0.55743	1.74	0.80722	D	1	D	0.59357	0.985	P	0.53518	0.728	T	0.15809	-1.0424	10	0.31617	T	0.26	.	8.2441	0.31677	1.0:0.0:0.0:0.0	.	51	C9JC66	.	A	51	ENSP00000396586:V51A;ENSP00000321549:V51A	ENSP00000321549:V51A	V	-	2	0	SLC22A24	62667676	0.978000	0.34361	1.000000	0.80357	0.754000	0.42855	4.119000	0.57891	1.081000	0.41110	0.315000	0.21342	GTC	SLC22A24	-	NULL	ENSG00000197658		0.493	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1		0	71	0	A	NM_173586		62911100	-1			no_errors	ENST00000326192	ensembl	human	known	74_37	missense	5.71	65	4	SNP	0.950	G	G	62911100	A	G	62911100	3	3	125	1	0	0	0	0	1	0	0	0	14498	275	10	4	1541	4	SLC22A24	11	62911100	Missense_Mutation	SNP	A	TCGA-LN-A7HW-01A-22D-A351-09	583337	62911100	72095416	71	32351											
FERMT3	83706	genome.wustl.edu	37	chr11	63978612	63978612	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggagccagaggaagagctCtatgacttgagcaaggttgt	13	8	14	6	0	1	4	0	2	1	2	1	6	1	6	1	3	3	3	1	3	4	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:63978612C>G	ENST00000279227.5	+	4	578	c.483C>G	c.(481-483)ctC>ctG	p.L161L	FERMT3_ENST00000345728.5_Silent_p.L161L	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	161					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						AGGAAGAGCTCTATGACTTGA	0.647																																																	0													14	15	15					11																	63978612		2143	4217	6360	SO:0001819	synonymous_variant	0			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.483C>G	11.37:g.63978612C>G			Q8IUA1|Q8N207|Q9BT48	Silent	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L161	ENST00000279227.5	37	c.483	CCDS8060.1	11																																																																																			FERMT3	-	smart_Band_41_domain	ENSG00000149781		0.647	FERMT3-001	KNOWN	basic|CCDS	protein_coding	FERMT3	HGNC	protein_coding	OTTHUMT00000396297.1		0	23	0	C	NM_031471		63978612	1			no_errors	ENST00000279227	ensembl	human	known	74_37	silent	13.64	19	3	SNP	0.981	G	G	63978612	C	G	63978612	2	3	125	1	0	0	0	0	0	0	0	1	5841	900	32	5		5	FERMT3	11	63978612	Silent	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	1067512	63978612	71027904	72	32352											
CCDC88B	283234	genome.wustl.edu	37	chr11	64108393	64108393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatagtgcccccagctcccGagggggacctcggatgctca	7	7	12	15	2	2	0	2	0	0	0	4	3	3	2	4	3	3	2	4	3	1	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:64108393G>A	ENST00000356786.5	+	3	265	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	74						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						CCCAGCTCCCGAGGGGGACCT	0.677																																																	0													50	57	55					11																	64108393		2201	4297	6498	SO:0001583	missense	0			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.221G>A	11.37:g.64108393G>A	ENSP00000349238:p.Arg74Gln		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_Hook-related_fam	p.R74Q	ENST00000356786.5	37	c.221	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	.	20.2	3.946832	0.73672	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.16743	2.32	3.59	2.67	0.31697	.	.	.	.	.	T	0.12178	0.0296	N	0.16166	0.38	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.52454	0.699;0.699	T	0.17806	-1.0357	9	0.11182	T	0.66	.	6.8383	0.23949	0.1305:0.0:0.8695:0.0	.	74;74	B2RTU8;A6NC98	.;CC88B_HUMAN	Q	74	ENSP00000349238:R74Q	ENSP00000349238:R74Q	R	+	2	0	CCDC88B	63864969	0.996000	0.38824	0.932000	0.37286	0.039000	0.13416	2.153000	0.42282	0.873000	0.35799	0.485000	0.47835	CGA	CCDC88B	-	pfam_Hook-related_fam	ENSG00000168071		0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	-	0	91	0	G	NM_032251		64108393	1	tier1	-	no_errors	ENST00000356786	ensembl	human	known	74_37	missense	48.96	49	47	SNP	0.998	A	A	64108393	G	A	64108393	3	1	125	1	0	0	0	0	1	0	0	0	2871	1058	37	1	231	1	CCDC88B	11	64108393	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	129781	64108393	70898123	73	32353											
SF1	7536	genome.wustl.edu	37	chr11	64535684	64535684	+	Frame_Shift_Del	DEL	C	C	-																															atgctgggacaggtgcttcaCccagttcagccatgagggac																										TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:64535684delC	ENST00000377390.3	-	9	1299	c.962delG	c.(961-963)ggtfs	p.G321fs	SF1_ENST00000489544.1_5'UTR|SF1_ENST00000227503.9_Frame_Shift_Del_p.G321fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.G295fs|SF1_ENST00000422298.2_Frame_Shift_Del_p.G206fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.G321fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.G321fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.G446fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	321					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						AGGTGCTTCACCCAGTTCAGC	0.592											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													94	79	84					11																	64535684		2201	4297	6498	SO:0001589	frameshift_variant	0			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.962delG	11.37:g.64535684delC	ENSP00000366607:p.Gly321fs	1077	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.G321fs	ENST00000377390.3	37	c.962	CCDS31599.1	11																																																																																			SF1	-	NULL	ENSG00000168066		0.592	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1		0	46	0	C	NM_004630		64535684	-1	tier1		no_errors	ENST00000377390	ensembl	human	known	74_37	frame_shift_del	9.68	28	3	DEL	1.000	-	-	64535684	C	-	64535684	7	5	125	1	0	1	0	1	0	0	0	0	14190	507	18	0	1115	0	SF1	11	64535684	Frame_Shift_Del	DEL	C	TCGA-LN-A7HW-01A-22D-A351-09	427291	64535684	70470832	74	32354											
PPP2R5B	5526	genome.wustl.edu	37	chr11	64695604	64695604	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccctccgtggccaagagaTatgtggatcaaaagtttgtc	11	10	11	9	1	1	1	1	0	0	1	3	3	2	2	3	2	1	1	3	2	4	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:64695604T>C	ENST00000164133.2	+	5	1187	c.565T>C	c.(565-567)Tat>Cat	p.Y189H		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	189					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.Y189H(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GGCCAAGAGATATGTGGATCA	0.562																																																	1	Substitution - Missense(1)	endometrium(1)											129	122	125					11																	64695604		2201	4297	6498	SO:0001583	missense	0			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.565T>C	11.37:g.64695604T>C	ENSP00000164133:p.Tyr189His		Q13853	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.Y189H	ENST00000164133.2	37	c.565	CCDS8085.1	11	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945821	0.53079	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.47	3.47	0.39725	Armadillo-type fold (1);	0.327444	0.29403	N	0.012256	T	0.54806	0.1881	L	0.48986	1.54	0.53005	D	0.999963	B	0.10296	0.003	B	0.17098	0.017	T	0.58869	-0.7560	9	0.66056	D	0.02	-1.4257	10.6363	0.45567	0.0:0.0:0.0:1.0	.	189	Q15173	2A5B_HUMAN	H	189;189;216;103;189	.	ENSP00000164133:Y189H	Y	+	1	0	PPP2R5B	64452180	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.465000	0.80898	1.846000	0.53633	0.449000	0.29647	TAT	PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000068971		0.562	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	-	0	110	0	T	NM_006244		64695604	1	tier1	-	no_errors	ENST00000164133	ensembl	human	known	74_37	missense	51.25	39	41	SNP	1.000	C	C	64695604	T	C	64695604	3	2	125	1	0	0	0	0	1	0	0	0	12435	1406	49	4	579	4	PPP2R5B	11	64695604	Missense_Mutation	SNP	T	TCGA-LN-A7HW-01A-22D-A351-09	159920	64695604	70310912	75	32355											
SIPA1	6494	genome.wustl.edu	37	chr11	65417519	65417519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctggagtcgctgtcccgaGagggtgaggccaccagggtg	6	8	17	10	2	1	2	0	1	1	1	3	4	2	3	3	4	0	1	3	4	0	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:65417519G>A	ENST00000394224.3	+	13	3141	c.2845G>A	c.(2845-2847)Gag>Aag	p.E949K	SIPA1_ENST00000527525.1_Missense_Mutation_p.E847K|SIPA1_ENST00000534313.1_Missense_Mutation_p.E949K|SIPA1_ENST00000394227.3_Missense_Mutation_p.E847K|MIR4489_ENST00000578869.1_RNA	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	949					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						GCTGTCCCGAGAGGGTGAGGC	0.627																																																	0													79	79	79					11																	65417519		2201	4297	6498	SO:0001583	missense	0			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.2845G>A	11.37:g.65417519G>A	ENSP00000377771:p.Glu949Lys		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.E949K	ENST00000394224.3	37	c.2845	CCDS8108.1	11	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252938	0.59212	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	4.1	4.1	0.47936	.	0.650263	0.13320	U	0.396777	T	0.77896	0.4199	L	0.32530	0.975	0.27669	N	0.946831	B;B	0.29531	0.241;0.247	B;B	0.28553	0.075;0.091	T	0.69022	-0.5255	10	0.36615	T	0.2	-7.1095	11.8163	0.52214	0.0:0.0:1.0:0.0	.	847;949	F6RY50;Q96FS4	.;SIPA1_HUMAN	K	949;847;949;847	ENSP00000436269:E949K;ENSP00000433686:E847K;ENSP00000377771:E949K;ENSP00000377774:E847K	ENSP00000377771:E949K	E	+	1	0	SIPA1	65174095	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	5.721000	0.68477	1.843000	0.53566	0.297000	0.19635	GAG	SIPA1	-	NULL	ENSG00000213445		0.627	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1	-	0	115	0	G	NM_006747		65417519	1	tier1	-	no_errors	ENST00000394224	ensembl	human	known	74_37	missense	23.36	81	25	SNP	1.000	A	A	65417519	G	A	65417519	3	1	125	1	0	0	0	0	1	0	0	0	14373	943	33	3	2891	3	SIPA1	11	65417519	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	721915	65417519	69588997	76	32356											
SIPA1	6494	genome.wustl.edu	37	chr11	65417876	65417876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccccatgtcttcaggccaGagcctgggaacctctcagag	9	7	10	15	0	3	2	2	0	2	2	4	3	3	3	5	2	2	0	5	2	1	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:65417876G>C	ENST00000394224.3	+	15	3204	c.2908G>C	c.(2908-2910)Gag>Cag	p.E970Q	SIPA1_ENST00000527525.1_Missense_Mutation_p.E868Q|SIPA1_ENST00000534313.1_Missense_Mutation_p.E970Q|SIPA1_ENST00000394227.3_Missense_Mutation_p.E868Q|MIR4489_ENST00000578869.1_RNA	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	970					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						CTTCAGGCCAGAGCCTGGGAA	0.632																																																	0													67	72	70					11																	65417876		2201	4297	6498	SO:0001583	missense	0			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.2908G>C	11.37:g.65417876G>C	ENSP00000377771:p.Glu970Gln		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.E970Q	ENST00000394224.3	37	c.2908	CCDS8108.1	11	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760580	0.49468	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.39	2.29	0.28610	.	0.415878	0.19389	U	0.115457	T	0.77491	0.4138	L	0.36672	1.1	0.21782	N	0.999544	B;D	0.58268	0.021;0.982	B;P	0.49999	0.01;0.628	T	0.66614	-0.5879	10	0.41790	T	0.15	-7.545	6.5144	0.22240	0.0:0.2026:0.5885:0.2089	.	868;970	F6RY50;Q96FS4	.;SIPA1_HUMAN	Q	970;868;970;868	ENSP00000436269:E970Q;ENSP00000433686:E868Q;ENSP00000377771:E970Q;ENSP00000377774:E868Q	ENSP00000377771:E970Q	E	+	1	0	SIPA1	65174452	0.976000	0.34144	0.957000	0.39632	0.829000	0.46940	1.303000	0.33470	0.808000	0.34231	0.313000	0.20887	GAG	SIPA1	-	NULL	ENSG00000213445		0.632	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1	-	0	94	0	G	NM_006747		65417876	1	tier1	-	no_errors	ENST00000394224	ensembl	human	known	74_37	missense	21.74	72	20	SNP	0.778	C	C	65417876	G	C	65417876	3	2	125	1	0	0	0	0	1	0	0	0	14373	943	33	5	2962	5	SIPA1	11	65417876	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	357	65417876	69588640	77	32357											
CATSPER1	117144	genome.wustl.edu	37	chr11	65793409	65793409	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattggggtctgccatggtGagaccccctatggtaatggg	8	11	14	8	0	1	1	0	1	1	1	1	2	1	1	3	5	1	1	3	5	3	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:65793409G>C	ENST00000312106.5	-	1	579	c.442C>G	c.(442-444)Cac>Gac	p.H148D		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	148	His-rich.				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						CTGCCATGGTGAGACCCCCTA	0.562																																																	0													65	56	59					11																	65793409		2201	4296	6497	SO:0001583	missense	0			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.442C>G	11.37:g.65793409G>C	ENSP00000309052:p.His148Asp		Q96P76	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.H148D	ENST00000312106.5	37	c.442	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688751	0.29962	.	.	ENSG00000175294	ENST00000312106	D	0.97831	-4.56	2.85	0.356	0.16074	.	1.802300	0.03494	N	0.217090	D	0.97483	0.9176	M	0.66939	2.045	0.09310	N	1	D	0.61080	0.989	P	0.52554	0.702	D	0.90342	0.4360	10	0.66056	D	0.02	0.1606	7.0128	0.24871	0.2927:0.0:0.7072:0.0	.	148	Q8NEC5	CTSR1_HUMAN	D	148	ENSP00000309052:H148D	ENSP00000309052:H148D	H	-	1	0	CATSPER1	65549985	0.005000	0.15991	0.000000	0.03702	0.011000	0.07611	0.761000	0.26489	0.064000	0.16427	0.313000	0.20887	CAC	CATSPER1	-	NULL	ENSG00000175294		0.562	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1	-	0	52	0	G	NM_053054		65793409	-1	tier1	-	no_errors	ENST00000312106	ensembl	human	known	74_37	missense	37.93	36	22	SNP	0.000	C	C	65793409	G	C	65793409	3	2	125	1	0	0	0	0	1	0	0	0	2694	1290	45	5	1948	5	CATSPER1	11	65793409	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	375533	65793409	69213107	78	32358											
MYEOV	26579	genome.wustl.edu	37	chr11	69063218	69063218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtctctgtggtttgctGctggagctggtgaccgggag	3	14	17	7	1	1	1	0	1	1	0	2	3	1	3	1	4	3	4	1	4	0	2	rs375123114		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:69063218G>T	ENST00000308946.3	+	3	751	c.301G>T	c.(301-303)Gct>Tct	p.A101S	MYEOV_ENST00000535407.1_Missense_Mutation_p.A43S|MYEOV_ENST00000441339.2_Missense_Mutation_p.A101S	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	101										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GTGGTTTGCTGCTGGAGCTGG	0.652																																																	0													85	85	85					11																	69063218		2200	4294	6494	SO:0001583	missense	0			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.301G>T	11.37:g.69063218G>T	ENSP00000308330:p.Ala101Ser		Q9UGN6|Q9UGN7	Missense_Mutation	SNP	NULL	p.A101S	ENST00000308946.3	37	c.301	CCDS8190.1	11	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067807	0.36470	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.23552	1.9;1.9;1.9	1.65	-1.68	0.08212	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	P	0.44659	0.84	P	0.45406	0.479	T	0.13098	-1.0522	9	0.87932	D	0	.	2.8424	0.05533	0.2677:0.2672:0.4651:0.0	.	101	Q96EZ4	MYEOV_HUMAN	S	101;101;43	ENSP00000412482:A101S;ENSP00000308330:A101S;ENSP00000438100:A43S	ENSP00000308330:A101S	A	+	1	0	MYEOV	68819794	0.000000	0.05858	0.001000	0.08648	0.457000	0.32468	-0.416000	0.07097	-0.439000	0.07222	0.491000	0.48974	GCT	MYEOV	-	NULL	ENSG00000172927		0.652	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MYEOV	HGNC	protein_coding	OTTHUMT00000396548.1		0	68	0	G			69063218	1			no_errors	ENST00000308946	ensembl	human	known	74_37	missense	7.84	45	4	SNP	0.001	T	T	69063218	G	T	69063218	3	4	125	1	0	0	0	0	1	0	0	0	10063	1319	46	3	307	3	MYEOV	11	69063218	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	3269809	69063218	65943298	79	32359											
LRTOMT	220074	genome.wustl.edu	37	chr11	71806129	71806129	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggaaccccatggaggaaGagaaagggtataggtaagtg	15	6	16	4	0	0	1	0	0	0	1	0	5	0	4	2	5	1	2	2	5	6	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:71806129G>C	ENST00000289488.2	+	5	802	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	LRTOMT_ENST00000419228.1_Missense_Mutation_p.K7N|LRTOMT_ENST00000539271.1_Missense_Mutation_p.K7N|LRTOMT_ENST00000435085.1_Missense_Mutation_p.K7N|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000539587.1_Missense_Mutation_p.K7N|LRTOMT_ENST00000536917.1_Missense_Mutation_p.E142Q|LAMTOR1_ENST00000539797.1_5'Flank|LRTOMT_ENST00000447974.1_Missense_Mutation_p.E142Q|LRTOMT_ENST00000440313.2_Missense_Mutation_p.K7N|LRTOMT_ENST00000439209.1_Missense_Mutation_p.E142Q|LRTOMT_ENST00000307198.7_Missense_Mutation_p.K7N|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000541614.1_Missense_Mutation_p.E142Q|LRTOMT_ENST00000538478.1_Missense_Mutation_p.E142Q|LRTOMT_ENST00000423494.2_Missense_Mutation_p.E124Q|LRTOMT_ENST00000324866.7_Missense_Mutation_p.E142Q	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	142	LRRCT.					cytoplasm (GO:0005737)				large_intestine(2)|lung(1)|ovary(1)	4						CATGGAGGAAGAGAAAGGGTA	0.557																																																	0													53	51	52					11																	71806129		2200	4293	6493	SO:0001583	missense	0				CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1	11q13.4	2014-09-05	2013-08-19	2008-11-27	ENSG00000184154	ENSG00000184154			25033	protein-coding gene	gene with protein product		612414	"leucine rich repeat containing 51", "deafness, autosomal recessive 63"	LRRC51, DFNB63		18794526, 18953341	Standard	NM_145309		Approved	COMT2, CFAP111	uc010rqw.2	Q8WZ04	OTTHUMG00000154887	ENST00000289488.2:c.424G>C	11.37:g.71806129G>C	ENSP00000289488:p.Glu142Gln		B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4	Missense_Mutation	SNP	pfam_O-MeTrfase_3	p.K7N	ENST00000289488.2	37	c.21	CCDS8208.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.621|9.621	1.133839|1.133839	0.21123|0.21123	.|.	.|.	ENSG00000184154|ENSG00000184154	ENST00000289488;ENST00000447974;ENST00000423494;ENST00000538478;ENST00000324866;ENST00000439209;ENST00000541614;ENST00000536917|ENST00000419228;ENST00000435085;ENST00000307198;ENST00000539271;ENST00000539587;ENST00000440313	T;T;T;T|T;T;T;T	0.54479|0.77489	0.57;0.57;0.57;1.44|-1.1;-0.71;-0.71;0.51	5.46|5.46	4.49|4.49	0.54785|0.54785	.|.	0.201515|.	0.44483|.	D|.	0.000452|.	T|T	0.67230|0.67230	0.2871|0.2871	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B;P;B|B;B	0.44006|0.25609	0.13;0.824;0.34|0.023;0.13	B;B;B|B;B	0.37833|0.31290	0.039;0.259;0.07|0.021;0.127	T|T	0.64905|0.64905	-0.6297|-0.6297	10|9	0.34782|0.40728	T|T	0.22|0.16	-27.4457|-27.4457	12.954|12.954	0.58416|0.58416	0.0:0.163:0.837:0.0|0.0:0.163:0.837:0.0	.|.	124;142;142|7;7	Q96E66-6;Q96E66-2;Q96E66|Q8WZ04;Q8WZ04-2	.;.;LRC51_HUMAN|TOMT_HUMAN;.	Q|N	142;142;124;142;142;142;142;142|7	ENSP00000289488:E142Q;ENSP00000441249:E124Q;ENSP00000444583:E142Q;ENSP00000395139:E142Q|ENSP00000392233:K7N;ENSP00000409789:K7N;ENSP00000305742:K7N;ENSP00000390485:K7N	ENSP00000289488:E142Q|ENSP00000305742:K7N	E|K	+|+	1|3	0|2	LRTOMT|LRTOMT	71483777|71483777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	2.342000|2.342000	0.43992|0.43992	2.575000|2.575000	0.86900|0.86900	0.609000|0.609000	0.83330|0.83330	GAG|AAG	LRTOMT	-	NULL	ENSG00000184154		0.557	LRTOMT-001	KNOWN	basic|CCDS	protein_coding	LRTOMT	HGNC	protein_coding	OTTHUMT00000337504.1	-	0	60	0	G	NM_145309		71806129	1	tier1	-	no_errors	ENST00000307198	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	C	C	71806129	G	C	71806129	3	2	125	1	0	0	0	0	1	0	0	0	9081	943	33	5	434	5	LRTOMT	11	71806129	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	2742911	71806129	63200387	80	32360											
OR2AT4	341152	genome.wustl.edu	37	chr11	74800003	74800003	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagtagtaggtgcccacGaccagaaggtgggagctgca	11	6	16	8	1	0	2	0	1	0	1	0	5	0	3	2	3	3	4	2	3	3	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:74800003G>T	ENST00000305159.3	-	1	796	c.756C>A	c.(754-756)gtC>gtA	p.V252V		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, 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)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGGTGCCCACGACCAGAAGGT	0.542																																																	0													66	63	64					11																	74800003		2200	4293	6493	SO:0001819	synonymous_variant	0			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.756C>A	11.37:g.74800003G>T			B9EGZ8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.V252	ENST00000305159.3	37	c.756	CCDS31639.1	11																																																																																			OR2AT4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171561		0.542	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AT4	HGNC	protein_coding	OTTHUMT00000383734.1	-	0	46	0	G	NM_001005285		74800003	-1	tier1	-	no_errors	ENST00000305159	ensembl	human	known	74_37	silent	28.57	45	18	SNP	1.000	T	T	74800003	G	T	74800003	2	4	125	1	0	0	0	0	0	0	0	1	11026	1045	37	2		2	OR2AT4	11	74800003	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	2993874	74800003	60206513	81	32361											
CEP164	22897	genome.wustl.edu	37	chr11	117282842	117282842	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttgagcctcctgcagctGggccttgatgagcacaacag	9	9	11	12	0	0	3	0	3	0	0	1	3	1	3	3	1	5	3	3	1	1	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:117282842G>T	ENST00000278935.3	+	33	4488	c.4341G>T	c.(4339-4341)ctG>ctT	p.L1447L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1447					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)		TCCTGCAGCTGGGCCTTGATG	0.587																																																	0													87	76	80					11																	117282842		2201	4296	6497	SO:0001819	synonymous_variant	0			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.4341G>T	11.37:g.117282842G>T			Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.L1447	ENST00000278935.3	37	c.4341	CCDS31683.1	11																																																																																			CEP164	-	NULL	ENSG00000110274		0.587	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	-	0	44	0	G	NM_014956		117282842	1	tier1	-	no_errors	ENST00000278935	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T	T	117282842	G	T	117282842	2	4	125	1	0	0	0	0	0	0	0	1	3256	1335	47	3		3	CEP164	11	117282842	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	42482839	117282842	17723674	82	32362											
HDAC7	51564	genome.wustl.edu	37	chr12	48189393	48189393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagcagcggggcatgagagCctgaggggtccaggaggaga	10	4	19	8	1	1	3	1	2	0	2	2	6	2	4	2	6	3	2	2	6	0	0			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:48189393C>T	ENST00000427332.2	-	10	1103	c.947G>A	c.(946-948)gGc>gAc	p.G316D	HDAC7_ENST00000080059.7_Missense_Mutation_p.G355D|HDAC7_ENST00000354334.3_Missense_Mutation_p.G318D|HDAC7_ENST00000552960.1_Missense_Mutation_p.G338D|HDAC7_ENST00000380610.4_Missense_Mutation_p.G372D			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	316	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)		GGCATGAGAGCCTGAGGGGTC	0.657																																																	0													13	15	14					12																	48189393		2176	4268	6444	SO:0001583	missense	0			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.947G>A	12.37:g.48189393C>T	ENSP00000404394:p.Gly316Asp		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.G372D	ENST00000427332.2	37	c.1115		12	.	.	.	.	.	.	.	.	.	.	C	3.534	-0.095071	0.07010	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.54866	0.56;0.56;0.57;0.55;0.57	4.32	-2.26	0.06867	.	1.212700	0.05762	N	0.604989	T	0.30166	0.0756	N	0.19112	0.55	0.09310	N	1	B;B;B	0.31383	0.321;0.027;0.168	B;B;B	0.27608	0.081;0.039;0.039	T	0.11842	-1.0571	10	0.12430	T	0.62	.	5.8043	0.18432	0.3512:0.4001:0.2486:0.0	.	355;338;318	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	D	355;318;338;372;316	ENSP00000080059:G355D;ENSP00000351326:G318D;ENSP00000448532:G338D;ENSP00000369984:G372D;ENSP00000404394:G316D	ENSP00000080059:G355D	G	-	2	0	HDAC7	46475660	0.079000	0.21365	0.021000	0.16686	0.991000	0.79684	0.144000	0.16135	-0.528000	0.06366	-0.310000	0.09108	GGC	HDAC7	-	pirsf_Histone_deAcase_II_euk	ENSG00000061273		0.657	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	HDAC7	HGNC	protein_coding	OTTHUMT00000328804.2	-	0	121	0	C			48189393	-1	tier1	-	no_errors	ENST00000380610	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.017	T	T	48189393	C	T	48189393	3	4	125	1	0	0	0	0	1	0	0	0	7039	739	26	3	1979	3	HDAC7	12	48189393	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09		48189393	85662502	83	32363											
BAZ2A	11176	genome.wustl.edu	37	chr12	57003984	57003984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcggcggacactgtgtaccaCgttgcggctcaggtactaag	8	9	13	11	4	1	0	1	0	0	0	2	1	1	1	1	4	3	4	1	4	3	4	rs369013055		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:57003984C>T	ENST00000551812.1	-	9	1994	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	BAZ2A_ENST00000179765.5_Missense_Mutation_p.V569M|BAZ2A_ENST00000549884.1_Missense_Mutation_p.V599M|BAZ2A_ENST00000379441.3_Missense_Mutation_p.V571M	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	601	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.			V -> L (in Ref. 1; BAA89211). {ECO:0000305}.	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						CTGTGTACCACGTTGCGGCTC	0.498																																																	0								C	MET/VAL	0,3952		0,0,1976	110	112	112		1801	4.8	0.9	12		112	1,8303		0,1,4151	no	missense	BAZ2A	NM_013449.3	21	0,1,6127	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	601/1906	57003984	1,12255	1976	4152	6128	SO:0001583	missense	0			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.1801G>A	12.37:g.57003984C>T	ENSP00000446880:p.Val601Met		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.V601M	ENST00000551812.1	37	c.1801	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271175	0.23221	0.0	1.2E-4	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884;ENST00000551996	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	4.75	4.75	0.60458	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.389995	0.25517	N	0.030126	D	0.92453	0.7604	N	0.08118	0	0.09310	N	1	D;D	0.59357	0.981;0.985	P;P	0.52598	0.578;0.703	D	0.87137	0.2200	10	0.49607	T	0.09	.	17.0703	0.86571	0.0:1.0:0.0:0.0	.	599;601	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	M	571;569;601;599;256	ENSP00000368754:V571M;ENSP00000179765:V569M;ENSP00000446880:V601M;ENSP00000447941:V599M	ENSP00000179765:V569M	V	-	1	0	BAZ2A	55290251	0.785000	0.28726	0.901000	0.35422	0.015000	0.08874	0.778000	0.26732	2.646000	0.89796	0.561000	0.74099	GTG	BAZ2A	-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	ENSG00000076108		0.498	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0	85	0	C	NM_013449		57003984	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	68.42	18	39	SNP	0.036	T	T	57003984	C	T	57003984	3	4	125	1	0	0	0	0	1	0	0	0	1332	536	19	1	4000	1	BAZ2A	12	57003984	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	8814591	57003984	76847911	84	32364											
STAT6	6778	genome.wustl.edu	37	chr12	57490895	57490895	+	Frame_Shift_Del	DEL	G	G	-																															aggctcatctggcccaggctGgggggcatctgcaggtgagg																										TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:57490895delG	ENST00000300134.3	-	20	2506	c.2181delC	c.(2179-2181)cccfs	p.P727fs	STAT6_ENST00000543873.2_Frame_Shift_Del_p.P727fs|STAT6_ENST00000454075.3_Frame_Shift_Del_p.P727fs|STAT6_ENST00000556155.1_Frame_Shift_Del_p.P727fs|STAT6_ENST00000537215.2_Frame_Shift_Del_p.P617fs|STAT6_ENST00000538913.2_Frame_Shift_Del_p.P617fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	727					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|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(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCCCAGGCTGGGGGGCATCT	0.602																																																	0																																										SO:0001589	frameshift_variant	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2181delC	12.37:g.57490895delG	ENSP00000300134:p.Pro727fs		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Frame_Shift_Del	DEL	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.S728fs	ENST00000300134.3	37	c.2181	CCDS8931.1	12																																																																																			STAT6	-	NULL	ENSG00000166888		0.602	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3		0	34	0	G	NM_003153		57490895	-1	tier1		no_errors	ENST00000300134	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.002	-	-	57490895	G	-	57490895	7	5	125	1	0	1	0	1	0	0	0	0	15317	1335	47	0	374	0	STAT6	12	57490895	Frame_Shift_Del	DEL	G	TCGA-LN-A7HW-01A-22D-A351-09	486911	57490895	76361000	85	32365											
ZFC3H1	196441	genome.wustl.edu	37	chr12	72057336	72057336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccatcttcaagctccccttCttccttcggcgagaggccac	6	10	7	18	2	3	1	1	0	2	1	6	2	5	1	5	2	1	1	5	2	1	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:72057336C>T	ENST00000378743.3	-	1	413	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.E19K|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.E19K|THAP2_ENST00000547843.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	19					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						AGCTCCCCTTCTTCCTTCGGC	0.632											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													87	101	97					12																	72057336		2048	4202	6250	SO:0001583	missense	0			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.55G>A	12.37:g.72057336C>T	ENSP00000368017:p.Glu19Lys	1134	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.E19K	ENST00000378743.3	37	c.55	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322897	0.81580	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.42900	0.96	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000007	T	0.44052	0.1275	N	0.19112	0.55	0.80722	D	1	D;D;P	0.56035	0.974;0.974;0.598	P;P;B	0.54499	0.754;0.754;0.19	T	0.47058	-0.9146	10	0.87932	D	0	.	16.9783	0.86320	0.0:1.0:0.0:0.0	.	19;19;19	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	K	19	ENSP00000368017:E19K	ENSP00000368017:E19K	E	-	1	0	ZFC3H1	70343603	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.300000	0.65721	2.678000	0.91216	0.563000	0.77884	GAA	ZFC3H1	-	NULL	ENSG00000133858		0.632	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	-	0	55	0	C	NM_144982		72057336	-1	tier1	-	no_errors	ENST00000378743	ensembl	human	known	74_37	missense	57.14	18	24	SNP	1.000	T	T	72057336	C	T	72057336	3	4	125	1	0	0	0	0	1	0	0	0	17681	922	32	3	6054	3	ZFC3H1	12	72057336	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	14566441	72057336	61794559	86	32366											
SYT1	6857	genome.wustl.edu	37	chr12	79689885	79689885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggctgccgaactgcccGccttggacatggggggcaca	7	7	14	13	2	1	0	1	0	0	0	1	2	1	1	3	5	3	2	3	5	1	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:79689885G>T	ENST00000261205.4	+	7	1168	c.511G>T	c.(511-513)Gcc>Tcc	p.A171S	SYT1_ENST00000552744.1_Missense_Mutation_p.A171S|SYT1_ENST00000393240.3_Missense_Mutation_p.A171S|SYT1_ENST00000457153.2_Missense_Mutation_p.A168S	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	171	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.A171T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CGAACTGCCCGCCTTGGACAT	0.423																																																	1	Substitution - Missense(1)	lung(1)											96	92	93					12																	79689885		2203	4300	6503	SO:0001583	missense	0				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.511G>T	12.37:g.79689885G>T	ENSP00000261205:p.Ala171Ser		Q6AI31	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.A171S	ENST00000261205.4	37	c.511	CCDS9017.1	12	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457084	0.84317	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;0.96;2.12	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.045242	0.85682	D	0.000000	T	0.69744	0.3145	L	0.46947	1.48	0.80722	D	1	B;B	0.30104	0.268;0.268	B;B	0.40256	0.324;0.324	T	0.68911	-0.5284	10	0.59425	D	0.04	.	19.8046	0.96525	0.0:0.0:1.0:0.0	.	171;171	Q6AI31;P21579	.;SYT1_HUMAN	S	171;171;168;171;168;171	ENSP00000376932:A171S;ENSP00000261205:A171S;ENSP00000391056:A168S;ENSP00000447575:A171S;ENSP00000448861:A168S;ENSP00000401559:A171S	ENSP00000261205:A171S	A	+	1	0	SYT1	78214016	1.000000	0.71417	0.991000	0.47740	0.955000	0.61496	7.903000	0.87398	2.754000	0.94517	0.650000	0.86243	GCC	SYT1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000067715		0.423	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	HGNC	protein_coding	OTTHUMT00000259415.1		0	60	0	G	NM_005639		79689885	1			no_errors	ENST00000261205	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	79689885	G	T	79689885	3	4	125	1	0	0	0	0	1	0	0	0	15512	1087	38	2	525	2	SYT1	12	79689885	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	7632549	79689885	54162010	87	32367											
BRAP	80724	genome.wustl.edu	37	chr12	112123540	112123540	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgaagccgaagccggcGgggacaggcgagtgttccgc	7	4	18	12	6	0	1	0	1	0	0	1	4	1	2	3	4	2	2	3	4	2	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:112123540G>A	ENST00000313698.4	+	0	0				ACAD10_ENST00000392636.2_5'Flank|ACAD10_ENST00000549590.1_5'Flank|ACAD10_ENST00000455480.2_5'Flank|BRAP_ENST00000419234.4_Silent_p.P19P|BRAP_ENST00000327551.6_5'Flank	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10							mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CGAAGCCGGCGGGGACAGGCG	0.711																																																	0													9	13	11					12																	112123540		2140	4159	6299	SO:0001631	upstream_gene_variant	0			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602		12.37:g.112123540G>A	Exception_encountered		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.P19	ENST00000313698.4	37	c.57	CCDS31903.1	12																																																																																			BRAP	-	NULL	ENSG00000089234		0.711	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000368307.1	-	0	36	0	G	NM_025247		112123540	-1	tier1	-	no_errors	ENST00000419234	ensembl	human	known	74_37	silent	43.18	25	19	SNP	1.000	A	A	112123540	G	A	112123540	1	1	125	0	1	0	0	0	0	0	0	0	1501	1103	39	1		1	BRAP	12	112123540	5'Flank	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	32433655	112123540	21728355	88	32368											
DTX1	1840	genome.wustl.edu	37	chr12	113515631	113515631	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctccaacgccatcctggcctCgcagcgccgcaaggcgcccc	6	4	10	21	5	0	0	0	0	0	0	3	0	2	0	7	2	2	2	7	2	2	0			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:113515631C>G	ENST00000257600.3	+	2	1165	c.662C>G	c.(661-663)tCg>tGg	p.S221W		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	221					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						atcctggcctcgcagcgccgc	0.776																																																	0													1	1	1					12																	113515631		924	1711	2635	SO:0001583	missense	0			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.662C>G	12.37:g.113515631C>G	ENSP00000257600:p.Ser221Trp		O60630|Q9BS04	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.S221W	ENST00000257600.3	37	c.662	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972107	0.34754	.	.	ENSG00000135144	ENST00000257600	T	0.14266	2.52	3.23	2.33	0.28932	.	0.420710	0.23716	N	0.045279	T	0.21718	0.0523	L	0.55481	1.735	0.58432	D	0.999999	D	0.69078	0.997	P	0.54312	0.748	T	0.00909	-1.1518	10	0.66056	D	0.02	-5.1563	9.4362	0.38639	0.0:0.8854:0.0:0.1146	.	221	Q86Y01	DTX1_HUMAN	W	221	ENSP00000257600:S221W	ENSP00000257600:S221W	S	+	2	0	DTX1	112000014	0.983000	0.35010	0.998000	0.56505	0.100000	0.18952	3.939000	0.56591	0.464000	0.27142	-0.497000	0.04613	TCG	DTX1	-	NULL	ENSG00000135144		0.776	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	-	0	9	0	C			113515631	1	tier1	-	no_errors	ENST00000257600	ensembl	human	known	74_37	missense	50.00	4	4	SNP	1.000	G	G	113515631	C	G	113515631	3	3	125	1	0	0	0	0	1	0	0	0	4807	893	31	5	668	5	DTX1	12	113515631	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	1392091	113515631	20336264	89	32369											
POSTN	10631	genome.wustl.edu	37	chr13	38166244	38166244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attgagattttacctgctggGcagcctttcattccttccat	7	16	7	11	0	1	1	1	1	0	1	3	2	3	1	4	1	3	2	4	1	1	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr13:38166244G>C	ENST00000379747.4	-	3	393	c.276C>G	c.(274-276)tgC>tgG	p.C92W	POSTN_ENST00000541481.1_Missense_Mutation_p.C92W|POSTN_ENST00000541179.1_Missense_Mutation_p.C92W|POSTN_ENST00000379742.4_Missense_Mutation_p.C92W|POSTN_ENST00000379749.4_Missense_Mutation_p.C92W|POSTN_ENST00000379743.4_Missense_Mutation_p.C92W	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	92	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TACCTGCTGGGCAGCCTTTCA	0.338																																																	0													64	64	64					13																	38166244		2203	4300	6503	SO:0001583	missense	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.276C>G	13.37:g.38166244G>C	ENSP00000369071:p.Cys92Trp		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.C92W	ENST00000379747.4	37	c.276	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228835	0.39399	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.07	-0.721	0.11189	EMI domain (1);FAS1 domain (1);	0.043410	0.85682	D	0.000000	D	0.94568	0.8250	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.991;0.999;0.999;0.999;0.996;1.0;0.999	D	0.92626	0.6112	10	0.72032	D	0.01	.	11.4818	0.50331	0.6613:0.0:0.3387:0.0	.	92;92;92;92;92;92;92	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	W	92;92;92;92;92;92;9	ENSP00000437959:C92W;ENSP00000369073:C92W;ENSP00000369071:C92W;ENSP00000369067:C92W;ENSP00000369066:C92W;ENSP00000437953:C92W	ENSP00000369066:C92W	C	-	3	2	POSTN	37064244	0.114000	0.22134	0.981000	0.43875	0.692000	0.40212	-0.475000	0.06599	-0.452000	0.07087	-0.965000	0.02619	TGC	POSTN	-	superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain	ENSG00000133110		0.338	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0	100	0	G	NM_006475		38166244	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	missense	31.30	90	41	SNP	0.971	C	C	38166244	G	C	38166244	3	2	125	1	0	0	0	0	1	0	0	0	12298	1195	42	5	2318	5	POSTN	13	38166244	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		38166244	77003634	90	32370											
DIS3	22894	genome.wustl.edu	37	chr13	73333933	73333933	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatttttgttgaatatagCtattttccaagcttcatctt	11	19	5	6	0	2	2	1	1	1	1	3	2	3	2	1	0	2	3	1	0	6	10			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr13:73333933C>A	ENST00000377767.4	-	21	2977	c.2877G>T	c.(2875-2877)taG>taT	p.*959Y	DIS3_ENST00000545453.1_Nonstop_Mutation_p.*797Y|DIS3_ENST00000377780.4_Nonstop_Mutation_p.*929Y	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	0					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)		TTGAATATAGCTATTTTCCAA	0.313										Multiple Myeloma(4;0.011)																																							0													127	125	126					13																	73333933		2203	4300	6503	SO:0001578	stop_lost	0			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.2877G>T	13.37:g.73333933C>A			A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Nonstop_Mutation	SNP	smart_PIN_dom	p.*959Y	ENST00000377767.4	37	c.2877	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047233	0.36085	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	.	.	.	6.06	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7031	0.34338	0.0:0.7658:0.0:0.2342	.	.	.	.	Y	959;929;797	.	.	X	-	3	2	DIS3	72231934	1.000000	0.71417	0.984000	0.44739	0.480000	0.33159	1.437000	0.34991	0.904000	0.36572	0.650000	0.86243	TAG	DIS3	-	NULL	ENSG00000083520		0.313	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2	-	0	38	0	C	NM_014953		73333933	-1	tier1	-	no_errors	ENST00000377767	ensembl	human	known	74_37	nonstop	47.83	12	11	SNP	0.995	A	A	73333933	C	A	73333933	4	1	125	1	0	0	0	0	0	0	0	0	4549	808	28	3	3	3	DIS3	13	73333933	Nonstop_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	35167689	73333933	41835945	91	32371											
C14orf21	161424	genome.wustl.edu	37	chr14	24771499	24771499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctggagcaggtcctgctgGtgttggagcccccaagactc	6	9	13	13	0	0	1	0	0	0	1	3	3	2	3	4	4	3	3	4	4	1	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr14:24771499G>A	ENST00000267425.3	+	5	1105	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	NOP9_ENST00000396802.3_Missense_Mutation_p.V338M|DHRS1_ENST00000288111.7_5'Flank|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	338							poly(A) RNA binding (GO:0044822)										GGTCCTGCTGGTGTTGGAGCC	0.567																																																	0													165	167	166					14																	24771499		2203	4300	6503	SO:0001583	missense	0				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.1012G>A	14.37:g.24771499G>A	ENSP00000267425:p.Val338Met		A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.V338M	ENST00000267425.3	37	c.1012	CCDS9624.1	14	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210853	0.79240	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.15603	2.41;2.43	5.06	5.06	0.68205	Armadillo-like helical (1);Armadillo-type fold (1);	0.070917	0.56097	D	0.000021	T	0.38612	0.1047	L	0.60455	1.87	0.51233	D	0.999918	D	0.89917	1.0	D	0.85130	0.997	T	0.02109	-1.1212	10	0.33940	T	0.23	-11.9703	17.3482	0.87315	0.0:0.0:1.0:0.0	.	338	Q86U38	CN021_HUMAN	M	338	ENSP00000267425:V338M;ENSP00000380020:V338M	ENSP00000267425:V338M	V	+	1	0	C14orf21	23841339	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	4.269000	0.58890	2.626000	0.88956	0.557000	0.71058	GTG	NOP9	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	ENSG00000196943		0.567	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	-	0	87	0	G			24771499	1	tier1	-	no_errors	ENST00000267425	ensembl	human	known	74_37	missense	48.00	39	36	SNP	1.000	A	A	24771499	G	A	24771499	3	1	125	1	0	0	0	0	1	0	0	0	1774	1261	44	3	1030	3	C14orf21	14	24771499	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		24771499	82578041	92	32372											
LRFN5	145581	genome.wustl.edu	37	chr14	42356585	42356585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtgaattgttgtggttgaggCgtctgtccagagaagatgac	9	12	15	5	1	1	5	0	3	1	2	2	6	2	5	1	2	0	2	1	2	2	3	rs147658218		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr14:42356585C>T	ENST00000298119.4	+	3	1946	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	LRFN5_ENST00000554120.1_Missense_Mutation_p.R253C|LRFN5_ENST00000554171.1_Missense_Mutation_p.R253C	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	253	LRRCT.					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)		GTGGTTGAGGCGTCTGTCCAG	0.443										HNSCC(30;0.082)																																							0								C	CYS/ARG	0,4406		0,0,2203	171	170	170		757	5.7	1	14	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRFN5	NM_152447.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	253/720	42356585	1,13005	2203	4300	6503	SO:0001583	missense	0			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.757C>T	14.37:g.42356585C>T	ENSP00000298119:p.Arg253Cys		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R253C	ENST00000298119.4	37	c.757	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140543	0.56936	0.0	1.16E-4	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.54279	0.58;0.58;0.58	5.69	5.69	0.88448	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.56097	D	0.000028	T	0.81375	0.4809	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86585	0.1856	10	0.87932	D	0	.	17.3157	0.87224	0.0:1.0:0.0:0.0	.	253;253	G3V364;Q96NI6	.;LRFN5_HUMAN	C	253	ENSP00000298119:R253C;ENSP00000451897:R253C;ENSP00000451067:R253C	ENSP00000298119:R253C	R	+	1	0	LRFN5	41426335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.114000	0.50383	2.676000	0.91093	0.557000	0.71058	CGT	LRFN5	-	NULL	ENSG00000165379		0.443	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1		0	86	0	C	NM_152447		42356585	1			no_errors	ENST00000298119	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	42356585	C	T	42356585	3	4	125	1	0	0	0	0	1	0	0	0	8976	768	27	1	759	1	LRFN5	14	42356585	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	17585086	42356585	64992955	93	32373											
PNMA1	9240	genome.wustl.edu	37	chr14	74179414	74179414	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccttccccagccccggtaAgccacagctgccttcggatg	6	7	10	18	2	0	0	0	0	0	0	2	1	1	1	7	2	4	2	7	2	1	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr14:74179414A>T	ENST00000316836.3	-	1	1714	c.929T>A	c.(928-930)cTt>cAt	p.L310H		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	310					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		agccccggtaagccacagctg	0.622																																																	0													28	28	28					14																	74179414		2203	4300	6503	SO:0001583	missense	0			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"Paraneoplastic Ma antigens"	9158	protein-coding gene	gene with protein product		604010	"paraneoplastic antigen MA1"			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.929T>A	14.37:g.74179414A>T	ENSP00000318914:p.Leu310His		A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	superfamily_Globin-like	p.L310H	ENST00000316836.3	37	c.929	CCDS9818.1	14	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521028	0.64747	.	.	ENSG00000176903	ENST00000316836	T	0.10960	2.82	4.59	4.59	0.56863	.	0.436105	0.17147	N	0.185230	T	0.27349	0.0671	L	0.61218	1.895	0.37406	D	0.91306	D	0.89917	1.0	D	0.78314	0.991	T	0.02975	-1.1087	10	0.40728	T	0.16	-21.1577	10.6565	0.45678	1.0:0.0:0.0:0.0	.	310	Q8ND90	PNMA1_HUMAN	H	310	ENSP00000318914:L310H	ENSP00000318914:L310H	L	-	2	0	PNMA1	73249167	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.571000	0.53841	2.288000	0.76882	0.533000	0.62120	CTT	PNMA1	-	NULL	ENSG00000176903		0.622	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA1	HGNC	protein_coding	OTTHUMT00000402774.1	-	0	63	0	A	NM_006029		74179414	-1	tier1	-	no_errors	ENST00000316836	ensembl	human	known	74_37	missense	58.33	25	35	SNP	1.000	T	T	74179414	A	T	74179414	3	4	125	1	0	0	0	0	1	0	0	0	12192	72	3	5	136	5	PNMA1	14	74179414	Missense_Mutation	SNP	A	TCGA-LN-A7HW-01A-22D-A351-09	31822829	74179414	33170126	94	32374											
TRIP11	9321	genome.wustl.edu	37	chr14	92470509	92470509	+	Missense_Mutation	SNP	T	T	A	0	1	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	attctgctcataactttggaTcaggccagtatagtccactt	10	14	7	10	0	3	0	2	0	1	0	4	1	4	1	2	2	2	2	2	2	3	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr14:92470509T>A	ENST00000267622.4	-	11	4184	c.3811A>T	c.(3811-3813)Atc>Ttc	p.I1271F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1271					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)		TAACTTTGGATCAGGCCAGTA	0.423			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													68	65	66					14																	92470509		2202	4299	6501	SO:0001583	missense	0			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.3811A>T	14.37:g.92470509T>A	ENSP00000267622:p.Ile1271Phe		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.I1271F	ENST00000267622.4	37	c.3811	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.57|15.57	2.873171|2.873171	0.51695|0.51695	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.07021	.|3.23	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.16257|0.16257	0.0391|0.0391	L|L	0.32530|0.32530	0.975|0.975	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D	.|0.89917	.|1.0;0.991	.|D;P	.|0.77004	.|0.989;0.785	T|T	0.09400|0.09400	-1.0676|-1.0676	5|10	.|0.07990	.|T	.|0.79	.|.	15.1282|15.1282	0.72500|0.72500	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1007;1271	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	V|F	986|1271;1007	.|ENSP00000267622:I1271F	.|ENSP00000267622:I1271F	D|I	-|-	2|1	0|0	TRIP11|TRIP11	91540262|91540262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.618000|0.618000	0.37518|0.37518	5.021000|5.021000	0.64072|0.64072	1.968000|1.968000	0.57251|0.57251	0.374000|0.374000	0.22700|0.22700	GAT|ATC	TRIP11	-	NULL	ENSG00000100815		0.423	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	-	0	78	0	T			92470509	-1	tier1	-	no_errors	ENST00000267622	ensembl	human	known	74_37	missense	32.43	50	24	SNP	1.000	A	A	92470509	T	A	92470509	3	1	125	1	0	0	0	0	1	0	0	0	16603	1435	50	5	2172	5	TRIP11	14	92470509	Missense_Mutation	SNP	T	TCGA-LN-A7HW-01A-22D-A351-09	18291095	92470509	14879031	95	32375											
KIAA1409	57578	genome.wustl.edu	37	chr14	94004395	94004395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagcagggtgctgtggtCgtcacggaaacaggcctgtt	7	10	14	10	2	2	0	2	0	1	0	4	1	2	1	1	4	3	3	1	4	1	1	rs377687253		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr14:94004395C>A	ENST00000393151.2	+	12	1183	c.1183C>A	c.(1183-1185)Cgt>Agt	p.R395S	UNC79_ENST00000553484.1_Missense_Mutation_p.R395S|UNC79_ENST00000256339.4_Missense_Mutation_p.R218S|UNC79_ENST00000555664.1_Missense_Mutation_p.R395S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	395					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)		p.R218C(1)		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						GTGCTGTGGTCGTCACGGAAA	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											79	74	76					14																	94004395		2203	4300	6503	SO:0001583	missense	0			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.1183C>A	14.37:g.94004395C>A	ENSP00000376858:p.Arg395Ser		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.R395S	ENST00000393151.2	37	c.1183		14	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024422	0.75390	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.69078	0.997;0.992	D;D	0.75484	0.986;0.979	T	0.00747	-1.1583	10	0.27785	T	0.31	-17.1717	19.9698	0.97280	0.0:1.0:0.0:0.0	.	395;395	C9JQL1;Q9P2D8	.;UNC79_HUMAN	S	218;395;395;395;395	ENSP00000256339:R218S;ENSP00000450868:R395S;ENSP00000451360:R395S;ENSP00000376858:R395S	ENSP00000256339:R218S	R	+	1	0	KIAA1409	93074148	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.559000	0.82265	2.786000	0.95864	0.561000	0.74099	CGT	UNC79	-	NULL	ENSG00000133958		0.507	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	-	0	51	0	C	XM_028395		94004395	1	tier1	-	no_errors	ENST00000553484	ensembl	human	known	74_37	missense	17.74	51	11	SNP	1.000	A	A	94004395	C	A	94004395	3	1	125	1	0	0	0	0	1	0	0	0	8257	884	31	2	686	2	KIAA1409	14	94004395	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	1533886	94004395	13345145	96	32376											
DUOX1	53905	genome.wustl.edu	37	chr15	45444575	45444575	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcagccagcatctctttCatgttctcctacatcttgct	8	14	5	14	0	4	0	1	0	3	0	6	0	4	0	2	0	5	4	2	0	1	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr15:45444575C>T	ENST00000321429.4	+	26	3692	c.3285C>T	c.(3283-3285)ttC>ttT	p.F1095F	DUOX1_ENST00000561166.1_Silent_p.F741F|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.F1095F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1095	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCATCTCTTTCATGTTCTCCT	0.592																																																	0													215	158	177					15																	45444575		2198	4298	6496	SO:0001819	synonymous_variant	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3285C>T	15.37:g.45444575C>T			A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.F1095	ENST00000321429.4	37	c.3285	CCDS32221.1	15																																																																																			DUOX1	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000137857		0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	-	0	101	0	C	NM_017434		45444575	1	tier1	-	no_errors	ENST00000321429	ensembl	human	known	74_37	silent	45.05	50	41	SNP	1.000	T	T	45444575	C	T	45444575	2	4	125	1	0	0	0	0	0	0	0	1	4814	825	29	3		3	DUOX1	15	45444575	Silent	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09		45444575	57086817	97	32377											
PKD1	5310	genome.wustl.edu	37	chr16	2160143	2160143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctttgccgctgccggccagGgccgggcccctgtccctcca	2	7	12	20	3	0	0	0	0	0	0	2	0	2	0	9	3	2	1	9	3	0	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr16:2160143G>A	ENST00000262304.4	-	15	5233	c.5025C>T	c.(5023-5025)gcC>gcT	p.A1675A	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.A1675A	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1675	PKD 12. {ECO:0000255|PROSITE- ProRule:PRU00151}.				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						TGCCGGCCAGGGCCGGGCCCC	0.682																																																	0													13	14	14					16																	2160143		2166	4266	6432	SO:0001819	synonymous_variant	0			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.5025C>T	16.37:g.2160143G>A			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.A1675	ENST00000262304.4	37	c.5025	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.465916	0.01053	.	.	ENSG00000008710	ENST00000306101	.	.	.	5.41	2.3	0.28687	.	.	.	.	.	T	0.32823	0.0842	.	.	.	0.53688	D	0.999975	.	.	.	.	.	.	T	0.04930	-1.0917	5	0.10636	T	0.68	.	4.0657	0.09859	0.0751:0.3273:0.3583:0.2393	.	.	.	.	S	1209	.	ENSP00000302503:P1209S	P	-	1	0	PKD1	2100144	0.020000	0.18652	0.026000	0.17262	0.057000	0.15508	0.409000	0.21082	0.251000	0.21505	0.550000	0.68814	CCT	PKD1	-	pfam_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat	ENSG00000008710		0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0	150	0	G			2160143	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	silent	59.50	49	72	SNP	0.050	A	A	2160143	G	A	2160143	2	1	125	1	0	0	0	0	0	0	0	1	12002	1219	43	3		3	PKD1	16	2160143	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		2160143	88194610	98	32378											
ZNF785	146540	genome.wustl.edu	37	chr16	30594220	30594220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagcagggaggtgtaggcGaaacggaggctgcaatcggg	10	4	19	8	3	0	0	0	0	0	0	1	3	0	2	1	6	3	4	1	6	3	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr16:30594220G>A	ENST00000395216.2	-	3	1038	c.879C>T	c.(877-879)ttC>ttT	p.F293F	AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Silent_p.F278F|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	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)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						AGGTGTAGGCGAAACGGAGGC	0.632																																																	0													48	51	50					16																	30594220		2197	4300	6497	SO:0001819	synonymous_variant	0			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.879C>T	16.37:g.30594220G>A			O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F293	ENST00000395216.2	37	c.879	CCDS10685.1	16																																																																																			ZNF785	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197162		0.632	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF785	HGNC	protein_coding	OTTHUMT00000255529.2	-	0	164	0	G	NM_152458		30594220	-1	tier1	-	no_errors	ENST00000395216	ensembl	human	known	74_37	silent	8.38	153	14	SNP	0.305	A	A	30594220	G	A	30594220	2	1	125	1	0	0	0	0	0	0	0	1	18205	1049	37	1		1	ZNF785	16	30594220	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	28434077	30594220	59760533	99	32379											
BCL7C	9274	genome.wustl.edu	37	chr16	30903911	30903911	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtacctggtcctacctctCtcttggcccagccgtggggg	4	10	13	14	1	2	0	0	0	2	0	4	0	3	0	5	5	3	1	5	5	2	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr16:30903911C>T	ENST00000215115.4	-	4	1453	c.438G>A	c.(436-438)gaG>gaA	p.E146E	MIR4519_ENST00000564901.1_RNA|AC106782.20_ENST00000572471.1_RNA|BCL7C_ENST00000380317.4_Silent_p.E146E|MIR4519_ENST00000570025.1_RNA|MIR762_ENST00000390236.1_RNA|MIR4519_ENST00000565573.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	146	Pro-rich.				apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			TCCTACCTCTCTCTTGGCCCA	0.647																																																	0													27	33	31					16																	30903911		2112	4243	6355	SO:0001819	synonymous_variant	0			AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.438G>A	16.37:g.30903911C>T			O43770|Q6PD89	Missense_Mutation	SNP	pfam_BCL7	p.R99K	ENST00000215115.4	37	c.296	CCDS10693.1	16																																																																																			BCL7C	-	NULL	ENSG00000099385		0.647	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL7C	HGNC	protein_coding	OTTHUMT00000255547.3	-	0	37	0	C	NM_004765		30903911	-1	tier1	-	no_errors	ENST00000574418	ensembl	human	known	74_37	missense	22.73	33	10	SNP	1.000	T	T	30903911	C	T	30903911	2	4	125	1	0	0	0	0	0	0	0	1	1381	912	32	3		3	BCL7C	16	30903911	Silent	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	309691	30903911	59450842	100	32380											
ESRP2	80004	genome.wustl.edu	37	chr16	68265264	68265264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcatctgaatgaaggcatCgcccgatggccggccctgtg	7	9	13	12	3	2	2	1	2	1	0	3	3	2	2	3	3	0	1	3	3	2	0	rs374057525		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr16:68265264C>T	ENST00000565858.1	-	12	1644	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.D510N	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	520	RRM 3.				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						ATGAAGGCATCGCCCGATGGC	0.552																																																	0								C	ASN/ASP	0,4396		0,0,2198	71	56	61		1528	5.8	0.9	16		61	1,8597		0,1,4298	no	missense	ESRP2	NM_024939.2	23	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	510/718	68265264	1,12993	2198	4299	6497	SO:0001583	missense	0			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.1558G>A	16.37:g.68265264C>T	ENSP00000454554:p.Asp520Asn		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.D520N	ENST00000565858.1	37	c.1558		16	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926070	0.92319	0.0	1.16E-4	ENSG00000103067	ENST00000473183	T	0.09073	3.02	5.79	5.79	0.91817	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	T	0.04041	-1.0982	10	0.87932	D	0	-14.5689	20.0368	0.97565	0.0:1.0:0.0:0.0	.	520;510	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	N	510	ENSP00000418748:D510N	ENSP00000418748:D510N	D	-	1	0	ESRP2	66822765	1.000000	0.71417	0.939000	0.37840	0.954000	0.61252	7.770000	0.85390	2.735000	0.93741	0.563000	0.77884	GAT	ESRP2	-	smart_RRM_dom	ENSG00000103067		0.552	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	-	0	49	0	C	NM_024939		68265264	-1	tier1	-	no_errors	ENST00000565858	ensembl	human	known	74_37	missense	45.16	34	28	SNP	1.000	T	T	68265264	C	T	68265264	3	4	125	1	0	0	0	0	1	0	0	0	5275	884	31	1	641	1	ESRP2	16	68265264	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	37361353	68265264	22089489	101	32381											
WDR81	124997	genome.wustl.edu	37	chr17	1631342	1631343	+	Missense_Mutation	DNP	AG	AG	CT																															ggacctggcaggggctgctgAggaggaggagagcgggctgc																								rs577690948|rs200758098|rs35048651	byFrequency	TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A|G	A|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr17:1631342_1631343AG>CT	ENST00000409644.1	+	1	3089_3090	c.3089_3090AG>CT	c.(3088-3090)gAG>gCT	p.E1030A	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_5'UTR	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1030					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)		GGGGCTGCTGAGGAGGAGGAGA	0.693																																																	0																																										SO:0001583	missense	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	Exception_encountered	17.37:g.1631342_1631343delinsCT	ENSP00000386609:p.Glu1030Ala		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1030A|p.E1030D	ENST00000409644.1	37	c.3089|c.3090	CCDS54062.1	17																																																																																			WDR81	-	NULL	ENSG00000167716		0.693	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2		0	31|32	0	A|G	NM_152348		1631342|1631343	1			no_errors	ENST00000409644	ensembl	human	known	74_37	missense	26.67|31.25	11	4|5	SNP	1.000	C|T	CT	1631343	AG	CT	1631342	3	2	125	1	0	0	0	0	1	0	0	0	17379	304	11	4	3153	4	WDR81	17	1631342	Missense_Mutation	DNP	AG	TCGA-LN-A7HW-01A-22D-A351-09		1631342	79563868	102	32382											
TP53	7157	genome.wustl.edu	37	chr17	7578266	7578266	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaatttccttccactcggaTaagatgctgaggaggggcca	11	9	11	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	1	3	4	2	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr17:7578266T>A	ENST00000269305.4	-	6	772	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195F|TP53_ENST00000413465.2_Missense_Mutation_p.I195F|TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000420246.2_Missense_Mutation_p.I195F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCCACTCGGATAAGATGCTGA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	60	Substitution - Missense(23)|Whole gene deletion(8)|Deletion - In frame(6)|Insertion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - Frameshift(4)|Complex - frameshift(1)	upper_aerodigestive_tract(8)|breast(8)|large_intestine(6)|biliary_tract(5)|skin(5)|lung(5)|oesophagus(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|urinary_tract(2)|liver(2)|stomach(1)|soft_tissue(1)											99	89	92					17																	7578266		2203	4300	6503	SO:0001583	missense	0	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.583A>T	17.37:g.7578266T>A	ENSP00000269305:p.Ile195Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.I195F	ENST00000269305.4	37	c.583	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493726	0.64186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99802	0.9915	M	0.85099	2.735	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.998;0.997;0.998;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.989;0.955;0.972;0.988;0.99;0.992	D	0.96806	0.9593	10	0.87932	D	0	-18.4587	13.709	0.62656	0.0:0.0:0.0:1.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195F;ENSP00000352610:I195F;ENSP00000269305:I195F;ENSP00000398846:I195F;ENSP00000391127:I195F;ENSP00000391478:I195F;ENSP00000425104:I63F;ENSP00000423862:I102F	ENSP00000269305:I195F	I	-	1	0	TP53	7518991	1.000000	0.71417	0.895000	0.35142	0.030000	0.12068	6.159000	0.71856	2.183000	0.69458	0.533000	0.62120	ATC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	122	0	T	NM_000546		7578266	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	84.00	20	105	SNP	0.999	A	A	7578266	T	A	7578266	3	1	125	1	0	0	0	0	1	0	0	0	16429	1406	49	5	711	5	TP53	17	7578266	Missense_Mutation	SNP	T	TCGA-LN-A7HW-01A-22D-A351-09	5946924	7578266	73616944	103	32383											
PIRT	644139	genome.wustl.edu	37	chr17	10728609	10728609	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgacttctgtctgtgcttCtgtttctttttgatgatggg	3	21	10	7	1	4	2	0	2	4	0	5	3	4	2	0	1	1	2	0	1	0	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr17:10728609C>T	ENST00000580256.2	-	2	992	c.354G>A	c.(352-354)caG>caA	p.Q118Q		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	118						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GTCTGTGCTTCTGTTTCTTTT	0.537																																																	0													91	92	92					17																	10728609		2092	4220	6312	SO:0001819	synonymous_variant	0			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"phosphoinositide-interacting regulator of TRPV1"	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.354G>A	17.37:g.10728609C>T			B7Z648	Silent	SNP	NULL	p.Q118	ENST00000580256.2	37	c.354	CCDS45614.1	17																																																																																			PIRT	-	NULL	ENSG00000233670		0.537	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIRT	HGNC	protein_coding	OTTHUMT00000441078.2	-	0	91	0	C	NM_001101387		10728609	-1	tier1	-	no_errors	ENST00000580256	ensembl	human	known	74_37	silent	32.18	59	28	SNP	1.000	T	T	10728609	C	T	10728609	2	4	125	1	0	0	0	0	0	0	0	1	11984	912	32	3		3	PIRT	17	10728609	Silent	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	3150343	10728609	70466601	104	32384											
GGA3	23163	genome.wustl.edu	37	chr17	73240711	73240711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctgactgacctttggagagaCgactttgattaactcattca	11	13	8	9	1	2	4	2	3	0	1	2	7	2	5	1	1	1	0	1	1	1	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr17:73240711C>T	ENST00000245541.6	-	4	505	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582717.1_Missense_Mutation_p.V25I|GGA3_ENST00000537686.1_Missense_Mutation_p.V97I|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000582486.1_Missense_Mutation_p.V25I|GGA3_ENST00000351904.7_Intron|GGA3_ENST00000579743.1_5'UTR	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	97	Binds to ARF1 (in long isoform).|VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				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)			TTTGGAGAGACGACTTTGATT	0.483																																																	0													205	198	200					17																	73240711		2203	4300	6503	SO:0001583	missense	0			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.289G>A	17.37:g.73240711C>T	ENSP00000245541:p.Val97Ile		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.V97I	ENST00000245541.6	37	c.289	CCDS11717.1	17	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459577	0.63401	.	.	ENSG00000125447	ENST00000245541;ENST00000537584;ENST00000537686	T;T	0.20332	2.08;2.08	5.12	5.12	0.69794	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	L	0.42744	1.35	0.80722	D	1	P	0.51933	0.949	P	0.48524	0.58	T	0.01252	-1.1405	10	0.18276	T	0.48	-16.7345	18.7592	0.91843	0.0:1.0:0.0:0.0	.	97	Q9NZ52	GGA3_HUMAN	I	97;25;97	ENSP00000245541:V97I;ENSP00000438085:V97I	ENSP00000245541:V97I	V	-	1	0	GGA3	70752306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.622000	0.83099	2.659000	0.90383	0.655000	0.94253	GTC	GGA3	-	pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS	ENSG00000125447		0.483	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1	-	0	111	0	C	NM_138619		73240711	-1	tier1	-	no_errors	ENST00000245541	ensembl	human	known	74_37	missense	64.71	24	44	SNP	1.000	T	T	73240711	C	T	73240711	3	4	125	1	0	0	0	0	1	0	0	0	6380	536	19	1	2026	1	GGA3	17	73240711	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	62512102	73240711	7954499	105	32385											
ASXL3	80816	genome.wustl.edu	37	chr18	31326180	31326180	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctaaaaagtgcagatttctCttcctatttgctttctgagc	9	16	7	9	0	2	2	0	1	2	1	4	2	3	2	1	0	3	3	1	0	4	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr18:31326180C>G	ENST00000269197.5	+	12	6368	c.6368C>G	c.(6367-6369)tCt>tGt	p.S2123C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2123					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						GCAGATTTCTCTTCCTATTTG	0.413																																																	0													76	79	78					18																	31326180		1875	4116	5991	SO:0001583	missense	0			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.6368C>G	18.37:g.31326180C>G	ENSP00000269197:p.Ser2123Cys		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.S2123C	ENST00000269197.5	37	c.6368	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498740	0.64298	.	.	ENSG00000141431	ENST00000269197	T	0.18502	2.21	6.04	6.04	0.98038	.	.	.	.	.	T	0.28632	0.0709	N	0.24115	0.695	0.45662	D	0.998587	D	0.71674	0.998	P	0.60173	0.87	T	0.01048	-1.1469	9	0.59425	D	0.04	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	2123	Q9C0F0	ASXL3_HUMAN	C	2123	ENSP00000269197:S2123C	ENSP00000269197:S2123C	S	+	2	0	ASXL3	29580178	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.987000	0.70571	2.873000	0.98535	0.563000	0.77884	TCT	ASXL3	-	NULL	ENSG00000141431		0.413	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	81	0	C			31326180	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	G	G	31326180	C	G	31326180	3	3	125	1	0	0	0	0	1	0	0	0	1069	913	32	5	6414	5	ASXL3	18	31326180	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09		31326180	46751068	106	32386											
DCC	1630	genome.wustl.edu	37	chr18	50923684	50923684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctacttgtatagtcagaaGacacaacatctctaagttac	14	12	5	10	0	2	2	1	0	1	2	4	2	3	2	1	0	3	2	1	0	7	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr18:50923684G>A	ENST00000442544.2	+	18	3311	c.2695G>A	c.(2695-2697)Gac>Aac	p.D899N	DCC_ENST00000581580.1_Missense_Mutation_p.D534N|DCC_ENST00000412726.1_Missense_Mutation_p.D727N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	899	Fibronectin type-III 5. {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)		ATAGTCAGAAGACACAACATC	0.338																																																	0													102	93	96					18																	50923684		2203	4300	6503	SO:0001583	missense	0			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.2695G>A	18.37:g.50923684G>A	ENSP00000389140:p.Asp899Asn			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D899N	ENST00000442544.2	37	c.2695	CCDS11952.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.517067|2.517067	0.44763|0.44763	.|.	.|.	ENSG00000187323|ENSG00000187323	ENST00000442544;ENST00000412726|ENST00000304775	T;T|T	0.58358|0.48836	0.34;0.34|0.8	5.8|5.8	5.8|5.8	0.92144|0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.24198|0.24198	0.0586|0.0586	N|N	0.00793|0.00793	-1.18|-1.18	0.58432|0.58432	D|D	0.999996|0.999996	B;B;B|.	0.12013|.	0.001;0.001;0.005|.	B;B;B|.	0.16722|.	0.006;0.006;0.016|.	T|T	0.35025|0.35025	-0.9805|-0.9805	10|7	0.02654|0.15066	T|T	1|0.55	.|.	18.8301|18.8301	0.92135|0.92135	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	727;727;899|.	E7EQM8;B4DYX2;P43146|.	.;.;DCC_HUMAN|.	N|K	899;727|754	ENSP00000389140:D899N;ENSP00000397322:D727N|ENSP00000304146:R754K	ENSP00000397322:D727N|ENSP00000304146:R754K	D|R	+|+	1|2	0|0	DCC|DCC	49177682|49177682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.118000|4.118000	0.57884|0.57884	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	GAC|AGA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.338	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	104	0	G	NM_005215		50923684	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	19.59	78	19	SNP	1.000	A	A	50923684	G	A	50923684	3	1	125	1	0	0	0	0	1	0	0	0	4291	942	33	3	2765	3	DCC	18	50923684	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	19597504	50923684	27153564	107	32387											
LPPR3	79948	genome.wustl.edu	37	chr19	815759	815759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagggcatggagagagtgcgGtcatagcactggaagcccac	11	6	15	9	1	1	1	1	0	0	1	1	4	1	3	1	4	3	2	1	4	3	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:815759G>T	ENST00000520876.3	-	3	246	c.168C>A	c.(166-168)gaC>gaA	p.D56E	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.D56E	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		56						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										AGAGAGTGCGGTCATAGCACT	0.617																																																	0													77	54	61					19																	815759		2201	4299	6500	SO:0001583	missense	0																														ENST00000520876.3:c.168C>A	19.37:g.815759G>T	ENSP00000430297:p.Asp56Glu		Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.D56E	ENST00000520876.3	37	c.168	CCDS58636.1	19	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378677	0.61735	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876;ENST00000521445	T;T	0.46819	0.86;0.86	3.96	3.96	0.45880	.	0.000000	0.85682	U	0.000000	T	0.63010	0.2475	M	0.73372	2.23	0.41372	D	0.987494	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	T	0.65944	-0.6045	10	0.72032	D	0.01	-15.3016	7.5951	0.28044	0.1206:0.0:0.8794:0.0	.	56;56	Q6T4P5;Q6T4P5-3	LPPR3_HUMAN;.	E	56	ENSP00000352962:D56E;ENSP00000430297:D56E	ENSP00000300947:D56E	D	-	3	2	AC006273.1	766759	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	4.520000	0.60524	1.765000	0.52091	0.313000	0.20887	GAC	LPPR3	-	superfamily_P_Acid_Pase_2/haloperoxidase	ENSG00000129951		0.617	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	Uniprot_gn	protein_coding	OTTHUMT00000379096.3		0	74	0	G			815759	-1			no_errors	ENST00000359894	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	815759	G	T	815759	3	4	125	1	0	0	0	0	1	0	0	0	8961	1252	44	3	2092	3	LPPR3	19	815759	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		815759	58313224	108	32388											
MUC16	94025	genome.wustl.edu	37	chr19	9064876	9064876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctagtgttagataaggcagGagttaatgtagaaacacttg	14	11	11	5	0	0	2	0	0	0	2	0	3	0	3	1	2	1	4	1	2	6	6			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:9064876G>T	ENST00000397910.4	-	3	22773	c.22570C>A	c.(22570-22572)Cct>Act	p.P7524T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7526	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						GATAAGGCAGGAGTTAATGTA	0.493																																																	0													135	129	131					19																	9064876		1987	4164	6151	SO:0001583	missense	0			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.22570C>A	19.37:g.9064876G>T	ENSP00000381008:p.Pro7524Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P7524T	ENST00000397910.4	37	c.22570	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	N	2.533	-0.308037	0.05458	.	.	ENSG00000181143	ENST00000397910	T	0.30981	1.51	2.91	-5.83	0.02325	.	.	.	.	.	T	0.13072	0.0317	N	0.17082	0.46	.	.	.	B	0.23937	0.094	B	0.18871	0.023	T	0.25502	-1.0130	8	0.87932	D	0	.	0.5551	0.00669	0.1993:0.282:0.2324:0.2862	.	7524	B5ME49	.	T	7524	ENSP00000381008:P7524T	ENSP00000381008:P7524T	P	-	1	0	MUC16	8925876	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.804000	0.00362	-1.244000	0.02516	-2.571000	0.00171	CCT	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	154	0	G	NM_024690		9064876	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	7.98	149	13	SNP	0.000	T	T	9064876	G	T	9064876	3	4	125	1	0	0	0	0	1	0	0	0	10011	1174	41	3	21281	3	MUC16	19	9064876	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	8249117	9064876	50064107	109	32389											
MYO9B	4650	genome.wustl.edu	37	chr19	17264847	17264847	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaagaatttcagctcaagCagcctgaagattatttctac	13	11	7	10	0	3	3	2	1	1	2	3	3	3	3	2	0	4	2	2	0	6	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:17264847C>T	ENST00000594824.1	+	5	1216	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Nonsense_Mutation_p.Q357*|MYO9B_ENST00000595618.1_Nonsense_Mutation_p.Q357*|CTD-3032J10.2_ENST00000599360.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	357	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						TCAGCTCAAGCAGCCTGAAGA	0.468																																																	0													114	115	114					19																	17264847		1944	4135	6079	SO:0001587	stop_gained	0				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.1069C>T	19.37:g.17264847C>T	ENSP00000471367:p.Gln357*		O75314|Q9NUJ2|Q9UHN0	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.Q357*	ENST00000594824.1	37	c.1069		19	.	.	.	.	.	.	.	.	.	.	C	38	7.091889	0.98059	.	.	ENSG00000099331	ENST00000397274	.	.	.	5.15	5.15	0.70609	.	0.000000	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	15.7832	0.78281	0.0:1.0:0.0:0.0	.	.	.	.	X	357	.	ENSP00000380444:Q357X	Q	+	1	0	MYO9B	17125847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.819000	0.55686	2.410000	0.81850	0.561000	0.74099	CAG	MYO9B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000099331		0.468	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	-	0	63	0	C			17264847	1	tier1	-	no_errors	ENST00000594824	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	1.000	T	T	17264847	C	T	17264847	4	4	125	1	0	0	0	0	0	1	0	0	10123	711	25	3	1083	3	MYO9B	19	17264847	Nonsense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	8199971	17264847	41864136	110	32390											
USHBP1	83878	genome.wustl.edu	37	chr19	17373483	17373483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcctctcggccaggcgagCtgcctctcgctggcagctcc	4	9	11	17	3	2	0	0	0	2	0	6	1	4	0	4	3	3	4	4	3	0	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:17373483C>A	ENST00000252597.3	-	4	693	c.520G>T	c.(520-522)Gct>Tct	p.A174S	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.A110S	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCAGGCGAGCTGCCTCTCGC	0.672																																																	0													44	43	44					19																	17373483		2203	4299	6502	SO:0001583	missense	0			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.520G>T	19.37:g.17373483C>A	ENSP00000252597:p.Ala174Ser			Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain	p.A174S	ENST00000252597.3	37	c.520	CCDS12353.1	19	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617902	0.46736	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.23147	1.93;1.92	3.96	0.0271	0.14153	.	0.240202	0.29028	N	0.013370	T	0.15522	0.0374	L	0.36672	1.1	0.09310	N	1	P;B;P	0.43094	0.799;0.192;0.799	B;B;B	0.37198	0.243;0.058;0.243	T	0.14090	-1.0485	10	0.49607	T	0.09	-5.9697	7.3917	0.26913	0.1725:0.4896:0.3379:0.0	.	110;174;174	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	S	174;110;174	ENSP00000252597:A174S;ENSP00000407902:A110S	ENSP00000252597:A174S	A	-	1	0	USHBP1	17234483	0.014000	0.17966	0.006000	0.13384	0.020000	0.10135	0.372000	0.20467	0.252000	0.21531	-0.499000	0.04595	GCT	USHBP1	-	NULL	ENSG00000130307		0.672	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	HGNC	protein_coding	OTTHUMT00000463328.1	-	0	90	0	C	NM_031941		17373483	-1	tier1	-	no_errors	ENST00000252597	ensembl	human	known	74_37	missense	12.38	92	13	SNP	0.000	A	A	17373483	C	A	17373483	3	1	125	1	0	0	0	0	1	0	0	0	17086	797	28	3	1631	3	USHBP1	19	17373483	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	108636	17373483	41755500	111	32391											
GPATCH1	55094	genome.wustl.edu	37	chr19	33609992	33609992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagatgaaagagaagagttCggcccgcggctgcctcccgt	10	7	13	11	4	0	4	0	1	0	3	2	5	1	4	3	2	1	2	3	2	3	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:33609992C>T	ENST00000170564.2	+	17	2804	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	830					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)					GAGAAGAGTTCGGCCCGCGGC	0.557											OREG0025409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(67;88 1713 4567 18227)												0													50	47	48					19																	33609992		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2490C>T	19.37:g.33609992C>T		841	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.F830	ENST00000170564.2	37	c.2490	CCDS12428.1	19																																																																																			GPATCH1	-	NULL	ENSG00000076650		0.557	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	HGNC	protein_coding	OTTHUMT00000450834.1	-	0	38	0	C	NM_018025		33609992	1	tier1	-	no_errors	ENST00000170564	ensembl	human	known	74_37	silent	34.21	25	13	SNP	0.996	T	T	33609992	C	T	33609992	2	4	125	1	0	0	0	0	0	0	0	1	6616	883	31	1		1	GPATCH1	19	33609992	Silent	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	16236509	33609992	25518991	112	32392											
LTBP4	8425	genome.wustl.edu	37	chr19	41111350	41111350	+	Missense_Mutation	SNP	A	A	G	1	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	cgtccacgtggagcacccgcAggaggcgtcggtggtggtgc	5	6	18	12	5	0	0	0	0	0	0	2	2	1	2	2	6	2	2	2	6	0	0			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:41111350A>G	ENST00000308370.7	+	6	683	c.683A>G	c.(682-684)cAg>cGg	p.Q228R	LTBP4_ENST00000204005.9_Missense_Mutation_p.Q191R|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.Q161R|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	228					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)			GAGCACCCGCAGGAGGCGTCG	0.706																																																	0													25	28	27					19																	41111350		1981	4108	6089	SO:0001583	missense	0			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.683A>G	19.37:g.41111350A>G	ENSP00000311905:p.Gln228Arg		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.Q228R	ENST00000308370.7	37	c.683		19	.	.	.	.	.	.	.	.	.	.	A	20.3	3.963489	0.74016	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	T;T;T	0.80214	-1.33;-1.35;-1.3	3.87	3.87	0.44632	.	0.000000	0.34507	U	0.003908	T	0.67277	0.2876	L	0.36672	1.1	0.80722	D	1	P;P;P	0.49185	0.92;0.92;0.92	B;B;B	0.37780	0.258;0.187;0.187	T	0.69687	-0.5078	10	0.62326	D	0.03	.	7.267	0.26235	0.7739:0.2261:0.0:0.0	.	161;228;191	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	R	191;228;161	ENSP00000204005:Q191R;ENSP00000311905:Q228R;ENSP00000380031:Q161R	ENSP00000204005:Q191R	Q	+	2	0	LTBP4	45803190	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.763000	0.47605	1.612000	0.50221	0.402000	0.26972	CAG	LTBP4	-	NULL	ENSG00000090006		0.706	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		-	0	151	0	A	NM_003573		41111350	1	tier1	-	no_errors	ENST00000308370	ensembl	human	known	74_37	missense	36.79	67	39	SNP	1.000	G	G	41111350	A	G	41111350	3	3	125	1	0	0	0	0	1	0	0	0	9111	188	7	4	998	4	LTBP4	19	41111350	Missense_Mutation	SNP	A	TCGA-LN-A7HW-01A-22D-A351-09	7501358	41111350	18017633	113	32393											
IRGQ	126298	genome.wustl.edu	37	chr19	44096738	44096738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcatagccctgggagtcCgccaggccgtagggggaaca	8	6	15	12	3	0	0	0	0	0	0	2	2	1	2	4	4	2	2	4	4	3	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:44096738C>T	ENST00000602269.1	-	2	1497	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R	IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_Missense_Mutation_p.G438R			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	438	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCTGGGAGTCCGCCAGGCCGT	0.721																																																	0													26	31	29					19																	44096738		2203	4295	6498	SO:0001583	missense	0			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.1312G>A	19.37:g.44096738C>T	ENSP00000472250:p.Gly438Arg		B2RNP3	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.G438R	ENST00000602269.1	37	c.1312	CCDS33040.1	19	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243194	0.39697	.	.	ENSG00000167378	ENST00000422989	T	0.48201	0.82	3.96	3.96	0.45880	.	0.164767	0.39274	N	0.001414	T	0.59972	0.2233	L	0.44542	1.39	0.22926	N	0.998557	D	0.89917	1.0	D	0.91635	0.999	T	0.52253	-0.8600	10	0.72032	D	0.01	-29.6472	14.3189	0.66470	0.0:1.0:0.0:0.0	.	438	Q8WZA9	IRGQ_HUMAN	R	438	ENSP00000387535:G438R	ENSP00000387535:G438R	G	-	1	0	IRGQ	48788578	0.039000	0.19947	0.089000	0.20774	0.050000	0.14768	1.717000	0.37991	2.500000	0.84329	0.563000	0.77884	GGA	IRGQ	-	NULL	ENSG00000167378		0.721	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	-	0	16	0	C	NM_001007561		44096738	-1	tier1	-	no_errors	ENST00000422989	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.290	T	T	44096738	C	T	44096738	3	4	125	1	0	0	0	0	1	0	0	0	7866	661	23	1	563	1	IRGQ	19	44096738	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	2985388	44096738	15032245	114	32394											
NOVA2	4858	genome.wustl.edu	37	chr19	46443970	46443970	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgttggcgtagctgatgttGaggcagctgctgctctgggg	5	11	17	8	2	1	2	0	2	1	0	1	2	1	2	0	4	4	8	0	4	1	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:46443970G>C	ENST00000263257.5	-	4	824	c.630C>G	c.(628-630)ctC>ctG	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	0			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>G	19.37:g.46443970G>C			O43267|Q9UEA1	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.L210	ENST00000263257.5	37	c.630	CCDS12679.1	19																																																																																			NOVA2	-	NULL	ENSG00000104967		0.687	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOVA2	HGNC	protein_coding	OTTHUMT00000437210.2	-	0	52	0	G	NM_002516		46443970	-1	tier1	-	no_errors	ENST00000263257	ensembl	human	known	74_37	silent	32.26	42	20	SNP	1.000	C	C	46443970	G	C	46443970	2	2	125	1	0	0	0	0	0	0	0	1	10594	1277	45	5		5	NOVA2	19	46443970	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	2347232	46443970	12685013	115	32395											
PRKD2	25865	genome.wustl.edu	37	chr19	47197277	47197277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccaggcatctcgcccacGaagtaggtggcattggcagt	8	7	13	13	3	1	0	0	0	1	0	2	1	1	0	3	4	0	4	3	4	2	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:47197277G>A	ENST00000291281.4	-	10	1656	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	PRKD2_ENST00000601806.1_Silent_p.F320F|PRKD2_ENST00000433867.1_Silent_p.F477F|PRKD2_ENST00000595515.1_Silent_p.F477F|PRKD2_ENST00000600194.1_Silent_p.F320F			Q9BZL6	KPCD2_HUMAN	protein kinase D2	477	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCTCGCCCACGAAGTAGGTGG	0.672																																																	0													64	53	57					19																	47197277		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1431C>T	19.37:g.47197277G>A			Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.F477	ENST00000291281.4	37	c.1431	CCDS12689.1	19																																																																																			PRKD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000105287		0.672	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	-	0	76	0	G	NM_016457		47197277	-1	tier1	-	no_errors	ENST00000291281	ensembl	human	known	74_37	silent	46.55	31	27	SNP	0.953	A	A	47197277	G	A	47197277	2	1	125	1	0	0	0	0	0	0	0	1	12561	1049	37	1		1	PRKD2	19	47197277	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	753307	47197277	11931706	116	32396											
KLK15	55554	genome.wustl.edu	37	chr19	51330300	51330300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcagcaacatgatgtcGttgcggtggctgcgcgcttc	6	9	15	11	5	0	1	0	1	0	0	2	1	0	1	0	3	4	5	0	3	1	2	rs369380000		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:51330300G>A	ENST00000598239.1	-	3	345	c.315C>T	c.(313-315)aaC>aaT	p.N105N	KLK15_ENST00000416184.1_Silent_p.N105N|KLK15_ENST00000596931.1_Silent_p.N104N|KLK15_ENST00000301421.2_Silent_p.N105N|KLK15_ENST00000326856.4_Silent_p.N104N	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACATGATGTCGTTGCGGTGGC	0.687																																					Pancreas(140;10 2513 7143 9246)												0													65	58	61					19																	51330300		2202	4299	6501	SO:0001819	synonymous_variant	0			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.315C>T	19.37:g.51330300G>A			A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.N105	ENST00000598239.1	37	c.315	CCDS12805.1	19																																																																																			KLK15	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000174562		0.687	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK15	HGNC	protein_coding	OTTHUMT00000465160.1	-	0	55	0	G	NM_017509		51330300	-1	tier1	-	no_errors	ENST00000598239	ensembl	human	known	74_37	silent	31.82	30	14	SNP	0.449	A	A	51330300	G	A	51330300	2	1	125	1	0	0	0	0	0	0	0	1	8430	1136	40	1		1	KLK15	19	51330300	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	4133023	51330300	7798683	117	32397											
CEACAM18	729767	genome.wustl.edu	37	chr19	51983739	51983739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggggtgcaaacgacagcGcaggaaacatgattatcagc	14	6	12	9	2	1	1	1	1	0	0	1	3	1	2	0	3	5	2	0	3	3	1	rs371514477		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:51983739G>A	ENST00000396477.4	+	2	226	c.205G>A	c.(205-207)Gca>Aca	p.A69T	CEACAM18_ENST00000451626.1_Missense_Mutation_p.A130T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	69								p.A130T(1)|p.A69T(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAACGACAGCGCAGGAAACAT	0.562																																																	2	Substitution - Missense(2)	large_intestine(2)											62	62	62					19																	51983739		2034	4190	6224	SO:0001583	missense	0					19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.205G>A	19.37:g.51983739G>A	ENSP00000379738:p.Ala69Thr		C9JN24	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A130T	ENST00000396477.4	37	c.388		19	.	.	.	.	.	.	.	.	.	.	.	4.142	0.024773	0.08054	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.64618	-0.11	2.79	0.64	0.17752	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37919	0.1021	N	0.16266	0.395	0.09310	N	1	B	0.17667	0.023	B	0.17722	0.019	T	0.20940	-1.0260	9	0.13853	T	0.58	0.5418	4.71	0.12868	0.3076:0.0:0.6924:0.0	.	130	A8MTB9	CEA18_HUMAN	T	130;69;69	ENSP00000402203:A130T	ENSP00000379738:A69T	A	+	1	0	CEACAM18	56675551	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.450000	0.21762	0.275000	0.22094	-0.141000	0.14075	GCA	CEACAM18	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000213822		0.562	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	-	0	94	0	G			51983739	1	tier1	-	no_errors	ENST00000451626	ensembl	human	known	74_37	missense	33.98	68	35	SNP	0.000	A	A	51983739	G	A	51983739	3	1	125	1	0	0	0	0	1	0	0	0	3196	1087	38	1	398	1	CEACAM18	19	51983739	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	653439	51983739	7145244	118	32398											
SUN5	140732	genome.wustl.edu	37	chr20	31584143	31584143	+	Silent	SNP	G	G	A	0	0	1	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	ctcttacctcaagctctgcaGtggaccatttatgctgtcat	8	14	7	12	0	4	0	2	0	2	0	4	1	4	1	2	1	4	3	2	1	3	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:31584143G>A	ENST00000356173.3	-	7	504	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	SUN5_ENST00000375523.3_Silent_p.L113L	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	138					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						AAGCTCTGCAGTGGACCATTT	0.438																																																	0													131	115	120					20																	31584143		2203	4300	6503	SO:0001819	synonymous_variant	0			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	613942	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.412C>T	20.37:g.31584143G>A			A6NJ82|Q5T9R0	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.L138	ENST00000356173.3	37	c.412	CCDS13209.1	20																																																																																			SUN5	-	NULL	ENSG00000167098		0.438	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	-	0	93	0	G	NM_080675		31584143	-1	tier1	-	no_errors	ENST00000356173	ensembl	human	known	74_37	silent	45.95	60	51	SNP	0.999	A	A	31584143	G	A	31584143	2	1	125	1	0	0	0	0	0	0	0	1	15441	1020	36	3		3	SUN5	20	31584143	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		31584143	31441377	119	32399											
E2F1	1869	genome.wustl.edu	37	chr20	32264556	32264556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcagaaatccaggggggtGaggtccccaaagtcacagtc	11	7	13	10	0	2	2	2	1	0	1	5	2	4	2	3	4	0	0	3	4	2	0			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:32264556G>A	ENST00000343380.5	-	7	1435	c.1296C>T	c.(1294-1296)ctC>ctT	p.L432L	NECAB3_ENST00000375238.4_5'Flank|RP1-63M2.5_ENST00000606866.1_RNA|NECAB3_ENST00000246190.6_5'Flank	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	432	Transactivation.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|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)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|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)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CCAGGGGGGTGAGGTCCCCAA	0.632																																																	0													25	21	23					20																	32264556		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.1296C>T	20.37:g.32264556G>A			Q13143|Q92768	Silent	SNP	pfam_E2F_TDP	p.L432	ENST00000343380.5	37	c.1296	CCDS13224.1	20																																																																																			E2F1	-	NULL	ENSG00000101412		0.632	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F1	HGNC	protein_coding	OTTHUMT00000078731.2	-	0	153	0	G			32264556	-1	tier1	-	no_errors	ENST00000343380	ensembl	human	known	74_37	silent	41.61	87	62	SNP	0.995	A	A	32264556	G	A	32264556	2	1	125	1	0	0	0	0	0	0	0	1	4880	1277	45	3		3	E2F1	20	32264556	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	680413	32264556	30760964	120	32400											
E2F1	1869	genome.wustl.edu	37	chr20	32264679	32264679	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctcagggaggaggccggaGaagtcctcccgcacatgctc	8	6	13	14	2	1	1	1	0	0	1	5	4	4	3	4	4	1	2	4	4	1	0			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:32264679G>C	ENST00000343380.5	-	7	1312	c.1173C>G	c.(1171-1173)ttC>ttG	p.F391L	NECAB3_ENST00000375238.4_5'Flank|RP1-63M2.5_ENST00000606866.1_RNA|NECAB3_ENST00000246190.6_5'Flank	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	391	Transactivation.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|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)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|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)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GGAGGCCGGAGAAGTCCTCCC	0.682																																																	0													27	26	26					20																	32264679		2198	4293	6491	SO:0001583	missense	0				CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.1173C>G	20.37:g.32264679G>C	ENSP00000345571:p.Phe391Leu		Q13143|Q92768	Missense_Mutation	SNP	pfam_E2F_TDP	p.F391L	ENST00000343380.5	37	c.1173	CCDS13224.1	20	.	.	.	.	.	.	.	.	.	.	G	8.270	0.813230	0.16537	.	.	ENSG00000101412	ENST00000343380	T	0.38401	1.14	4.63	2.69	0.31865	.	0.413302	0.26016	N	0.026853	T	0.22322	0.0538	L	0.40543	1.245	0.36715	D	0.880842	P	0.36577	0.558	B	0.33521	0.165	T	0.12734	-1.0536	10	0.14252	T	0.57	-23.6877	6.3661	0.21455	0.165:0.1502:0.6848:0.0	.	391	Q01094	E2F1_HUMAN	L	391	ENSP00000345571:F391L	ENSP00000345571:F391L	F	-	3	2	E2F1	31728340	0.576000	0.26700	0.988000	0.46212	0.992000	0.81027	0.792000	0.26929	0.578000	0.29487	0.455000	0.32223	TTC	E2F1	-	NULL	ENSG00000101412		0.682	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F1	HGNC	protein_coding	OTTHUMT00000078731.2	-	0	52	0	G			32264679	-1	tier1	-	no_errors	ENST00000343380	ensembl	human	known	74_37	missense	47.83	36	33	SNP	0.957	C	C	32264679	G	C	32264679	3	2	125	1	0	0	0	0	1	0	0	0	4880	933	33	5	144	5	E2F1	20	32264679	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	123	32264679	30760841	121	32401											
PXMP4	11264	genome.wustl.edu	37	chr20	32307929	32307929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gttccggaagcccttaagcaCggccaacgcagcgtggtagc	9	6	13	13	4	0	0	0	0	0	0	1	1	1	1	3	3	5	4	3	3	4	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:32307929C>T	ENST00000409299.3	-	1	177	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	PXMP4_ENST00000217398.3_Missense_Mutation_p.V29M|PXMP4_ENST00000344022.3_Missense_Mutation_p.V29M	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	29						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CCCTTAAGCACGGCCAACGCA	0.692																																																	0													42	43	43					20																	32307929		2203	4300	6503	SO:0001583	missense	0			AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"24 kDa peroxisomal intrinsic membrane protein"		"peroxisomal membrane protein 4 (24kD)"			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.85G>A	20.37:g.32307929C>T	ENSP00000386385:p.Val29Met		A2A2I7|Q9H0T4	Missense_Mutation	SNP	pirsf_Pmp4	p.V29M	ENST00000409299.3	37	c.85	CCDS13225.1	20	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728996	0.48833	.	.	ENSG00000101417	ENST00000409299;ENST00000344022;ENST00000217398	T	0.33216	1.42	5.6	-11.2	0.00127	.	0.373210	0.30667	N	0.009131	T	0.11196	0.0273	N	0.25789	0.76	0.27248	N	0.958975	P;B;B	0.37594	0.601;0.063;0.02	B;B;B	0.26517	0.07;0.013;0.023	T	0.07290	-1.0780	10	0.49607	T	0.09	-8.9904	9.8299	0.40934	0.0839:0.5687:0.2531:0.0942	.	29;29;29	B4DWH1;A2A2I7;Q9Y6I8	.;.;PXMP4_HUMAN	M	29	ENSP00000386385:V29M	ENSP00000217398:V29M	V	-	1	0	PXMP4	31771590	0.000000	0.05858	0.030000	0.17652	0.652000	0.38707	-0.335000	0.07873	-2.086000	0.00863	-1.251000	0.01509	GTG	PXMP4	-	pirsf_Pmp4	ENSG00000101417		0.692	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXMP4	HGNC	protein_coding	OTTHUMT00000078739.2	-	0	180	0	C	NM_007238		32307929	-1	tier1	-	no_errors	ENST00000409299	ensembl	human	known	74_37	missense	35.63	159	88	SNP	0.015	T	T	32307929	C	T	32307929	3	4	125	1	0	0	0	0	1	0	0	0	12896	536	19	1	569	1	PXMP4	20	32307929	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	43250	32307929	30717591	122	32402											
SLC32A1	140679	genome.wustl.edu	37	chr20	37356902	37356902	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cctatcctctgccattctttGccgctgtcgaggtgctggag	4	13	11	13	2	2	0	0	0	2	0	4	2	3	1	4	2	3	2	4	2	1	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:37356902G>T	ENST00000217420.1	+	2	1461	c.1198G>T	c.(1198-1200)Gcc>Tcc	p.A400S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	400					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)	p.A400T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCCATTCTTTGCCGCTGTCGA	0.627																																																	1	Substitution - Missense(1)	endometrium(1)											75	74	74					20																	37356902		2203	4300	6503	SO:0001583	missense	0			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.1198G>T	20.37:g.37356902G>T	ENSP00000217420:p.Ala400Ser		Q8N489	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A400S	ENST00000217420.1	37	c.1198	CCDS13307.1	20	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605385	0.66445	.	.	ENSG00000101438	ENST00000217420	T	0.02395	4.31	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	L	0.47716	1.5	0.80722	D	1	P	0.42123	0.771	P	0.48334	0.574	T	0.22977	-1.0201	10	0.62326	D	0.03	-8.0083	14.9208	0.70835	0.0:0.0:1.0:0.0	.	400	Q9H598	VIAAT_HUMAN	S	400	ENSP00000217420:A400S	ENSP00000217420:A400S	A	+	1	0	SLC32A1	36790316	1.000000	0.71417	0.994000	0.49952	0.667000	0.39255	9.788000	0.99064	2.202000	0.70862	0.563000	0.77884	GCC	SLC32A1	-	pfam_AA_transpt_TM	ENSG00000101438		0.627	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	HGNC	protein_coding	OTTHUMT00000079206.1		0	58	0	G	NM_080552		37356902	1			no_errors	ENST00000217420	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T	T	37356902	G	T	37356902	3	4	125	1	0	0	0	0	1	0	0	0	14610	1319	46	3	1204	3	SLC32A1	20	37356902	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	5048973	37356902	25668618	123	32403											
PIGT	51604	genome.wustl.edu	37	chr20	44054363	44054363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgctatggctccttctacaAtctcctcacccgaaccttcc	7	12	5	17	1	3	0	1	0	2	0	6	1	5	0	5	1	3	2	5	1	4	4	rs376655698		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:44054363A>G	ENST00000279036.6	+	12	1714	c.1634A>G	c.(1633-1635)aAt>aGt	p.N545S	PIGT_ENST00000372689.5_Missense_Mutation_p.N478S|PIGT_ENST00000543458.2_Missense_Mutation_p.N489S|PIGT_ENST00000279035.9_Missense_Mutation_p.N443S|PIGT_ENST00000545755.1_Missense_Mutation_p.N283S|PIGT_ENST00000341555.5_Missense_Mutation_p.N351S|PIGT_ENST00000535404.1_Missense_Mutation_p.N390S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	545					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TCCTTCTACAATCTCCTCACC	0.642																																																	0													62	42	49					20																	44054363		2203	4300	6503	SO:0001583	missense	0				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1634A>G	20.37:g.44054363A>G	ENSP00000279036:p.Asn545Ser		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	pfam_PIG-T	p.N545S	ENST00000279036.6	37	c.1634	CCDS13353.1	20	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335041	0.81801	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000545755;ENST00000341555;ENST00000535404	T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.68174	0.2972	M	0.71296	2.17	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0;0.998;0.988;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.955;0.998;0.998;0.999;0.994;0.956;0.998;0.998	T	0.69457	-0.5140	10	0.52906	T	0.07	-26.9249	15.7569	0.78037	1.0:0.0:0.0:0.0	.	383;443;390;489;390;334;283;221;545	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7Z1F1;Q969N2-3;B7Z1N3;B7Z4T7;Q969N2	.;.;.;.;.;.;.;.;PIGT_HUMAN	S	489;478;443;545;283;351;390	ENSP00000441577:N489S;ENSP00000361774:N478S;ENSP00000279035:N443S;ENSP00000279036:N545S;ENSP00000443963:N283S;ENSP00000343783:N351S;ENSP00000440528:N390S	ENSP00000279035:N443S	N	+	2	0	PIGT	43487777	1.000000	0.71417	0.970000	0.41538	0.998000	0.95712	9.268000	0.95675	2.371000	0.80710	0.533000	0.62120	AAT	PIGT	-	pfam_PIG-T	ENSG00000124155		0.642	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	HGNC	protein_coding	OTTHUMT00000079434.2	-	0	88	0	A	NM_015937		44054363	1	tier1	-	no_errors	ENST00000279036	ensembl	human	known	74_37	missense	39.22	62	40	SNP	1.000	G	G	44054363	A	G	44054363	3	3	125	1	0	0	0	0	1	0	0	0	11938	101	4	4	1680	4	PIGT	20	44054363	Missense_Mutation	SNP	A	TCGA-LN-A7HW-01A-22D-A351-09	6697461	44054363	18971157	124	32404											
C20orf165	128497	genome.wustl.edu	37	chr20	44515296	44515296	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggccatcatgaaagcttGagcggcccagatcaggtcct	10	8	12	11	1	2	3	2	2	0	1	3	3	3	3	3	3	2	1	3	3	1	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:44515296G>C	ENST00000372519.3	-	2	588	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	182					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATGAAAGCTTGAGCGGCCCAG	0.637																																																	0													61	64	63					20																	44515296		2203	4300	6503	SO:0001583	missense	0			AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 165"	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.544C>G	20.37:g.44515296G>C	ENSP00000361597:p.Gln182Glu			Missense_Mutation	SNP	NULL	p.Q182E	ENST00000372519.3	37	c.544	CCDS13383.1	20	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205071	0.79127	.	.	ENSG00000149634	ENST00000372519	T	0.52983	0.64	5.55	5.55	0.83447	.	0.000000	0.51477	D	0.000100	T	0.57242	0.2040	L	0.34521	1.04	0.41446	D	0.987958	D	0.59767	0.986	P	0.60541	0.876	T	0.59112	-0.7515	10	0.87932	D	0	-6.5401	18.4386	0.90656	0.0:0.0:1.0:0.0	.	182	Q9BR10	CT165_HUMAN	E	182	ENSP00000361597:Q182E	ENSP00000361597:Q182E	Q	-	1	0	C20orf165	43948703	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.676000	0.68131	2.894000	0.99253	0.655000	0.94253	CAA	SPATA25	-	NULL	ENSG00000149634		0.637	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA25	HGNC	protein_coding	OTTHUMT00000079541.1	-	0	71	0	G			44515296	-1	tier1	-	no_errors	ENST00000372519	ensembl	human	known	74_37	missense	44.87	43	35	SNP	1.000	C	C	44515296	G	C	44515296	3	2	125	1	0	0	0	0	1	0	0	0	2101	1299	45	5	143	5	C20orf165	20	44515296	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	460933	44515296	18510224	125	32405											
GTPBP5	26164	genome.wustl.edu	37	chr20	60775767	60775767	+	Silent	SNP	C	C	A	0	0	0	1	1	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	atccccggcatcatacgaggCgcccaccagaacaggggtct	10	5	11	15	3	2	1	1	0	1	1	3	2	3	1	4	4	2	1	4	4	2	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:60775767C>A	ENST00000370823.3	+	7	873	c.855C>A	c.(853-855)ggC>ggA	p.G285G	MTG2_ENST00000536470.1_Silent_p.G57G|MTG2_ENST00000436421.2_Silent_p.G127G	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	285	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)										TCATACGAGGCGCCCACCAGA	0.632																																																	0													68	74	72					20																	60775767		2203	4299	6502	SO:0001819	synonymous_variant	0			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.855C>A	20.37:g.60775767C>A			A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom	p.G285	ENST00000370823.3	37	c.855	CCDS13492.1	20																																																																																			MTG2	-	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom	ENSG00000101181		0.632	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	MTG2	HGNC	protein_coding	OTTHUMT00000079989.1	-	0	43	0	C	NM_015666		60775767	1	tier1	-	no_errors	ENST00000370823	ensembl	human	known	74_37	silent	47.92	25	23	SNP	0.161	A	A	60775767	C	A	60775767	2	1	125	1	0	0	0	0	0	0	0	1	6910	755	27	2		2	GTPBP5	20	60775767	Silent	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	16260471	60775767	2249753	126	32406											
KRTAP20-1	337975	genome.wustl.edu	37	chr21	31988818	31988818	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggctatgggtatggtggGcttggctgtggctatggctg	3	13	20	5	0	0	0	0	0	0	0	0	0	0	0	0	8	0	6	0	8	3	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr21:31988818G>T	ENST00000334664.2	+	1	69	c.45G>T	c.(43-45)ggG>ggT	p.G15G	KRTAP6-1_ENST00000329122.2_5'Flank	NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	15						intermediate filament (GO:0005882)				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						GGTATGGTGGGCTTGGCTGTG	0.458																																																	0													233	199	211					21																	31988818		2203	4300	6503	SO:0001819	synonymous_variant	0			AP001708	CCDS13603.1	21q22.1	2011-02-10			ENSG00000244624	ENSG00000244624		"Keratin associated proteins"	18943	protein-coding gene	gene with protein product						12359730	Standard	NM_181615		Approved	KAP20.1	uc011ade.2	Q3LI63	OTTHUMG00000057801	ENST00000334664.2:c.45G>T	21.37:g.31988818G>T				Silent	SNP	pfam_KRTAP_type6/8/16/19/20	p.G15	ENST00000334664.2	37	c.45	CCDS13603.1	21																																																																																			KRTAP20-1	-	pfam_KRTAP_type6/8/16/19/20	ENSG00000244624		0.458	KRTAP20-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP20-1	HGNC	protein_coding	OTTHUMT00000128253.3	-	0	191	0	G			31988818	1	tier1	-	no_errors	ENST00000334664	ensembl	human	known	74_37	silent	68.31	45	97	SNP	0.880	T	T	31988818	G	T	31988818	2	4	125	1	0	0	0	0	0	0	0	1	8563	1190	42	3		3	KRTAP20-1	21	31988818	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		31988818	16141077	127	32407											
SON	6651	genome.wustl.edu	37	chr21	34922690	34922690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcagcgatggagttgccgGggccacctgcgacctccatg	6	7	13	15	3	1	0	1	0	0	0	2	3	2	1	6	3	3	1	6	3	0	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr21:34922690G>T	ENST00000356577.4	+	3	1628	c.1153G>T	c.(1153-1155)Ggg>Tgg	p.G385W	SON_ENST00000290239.6_Missense_Mutation_p.G385W|SON_ENST00000300278.4_Missense_Mutation_p.G385W|SON_ENST00000381679.4_Missense_Mutation_p.G385W|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	385					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						GGAGTTGCCGGGGCCACCTGC	0.642																																																	0													54	60	58					21																	34922690		2203	4300	6503	SO:0001583	missense	0			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.1153G>T	21.37:g.34922690G>T	ENSP00000348984:p.Gly385Trp		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom	p.G385W	ENST00000356577.4	37	c.1153	CCDS13629.1	21	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358216	0.61403	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.18016	2.39;2.36;2.36;2.24	5.29	4.4	0.53042	.	0.000000	0.64402	D	0.000019	T	0.28499	0.0705	L	0.29908	0.895	0.33713	D	0.616041	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.40534	-0.9558	10	0.72032	D	0.01	.	11.674	0.51419	0.0:0.0:0.8229:0.1771	.	385;385;385	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	W	385	ENSP00000348984:G385W;ENSP00000290239:G385W;ENSP00000300278:G385W;ENSP00000371095:G385W	ENSP00000290239:G385W	G	+	1	0	SON	33844560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.568000	0.60857	1.348000	0.45733	0.561000	0.74099	GGG	SON	-	NULL	ENSG00000159140		0.642	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	-	0	102	0	G	NM_138927		34922690	1	tier1	-	no_errors	ENST00000356577	ensembl	human	known	74_37	missense	64.38	26	47	SNP	1.000	T	T	34922690	G	T	34922690	3	4	125	1	0	0	0	0	1	0	0	0	14971	1232	43	3	1163	3	SON	21	34922690	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	2933872	34922690	13207205	128	32408											
ITSN1	6453	genome.wustl.edu	37	chr21	35257404	35257404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacatagagactgagaaaaAgaagcgcgagaaagcgtacc	18	4	11	8	3	0	4	0	1	0	4	0	7	0	4	1	0	4	1	1	0	7	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr21:35257404A>G	ENST00000381318.3	+	37	5024	c.4736A>G	c.(4735-4737)aAg>aGg	p.K1579R	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.K1518R|ITSN1_ENST00000381285.4_Missense_Mutation_p.K1579R|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.K1574R	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1579					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						ACTGAGAAAAAGAAGCGCGAG	0.522																																																	0													80	77	78					21																	35257404		2203	4300	6503	SO:0001583	missense	0			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.4736A>G	21.37:g.35257404A>G	ENSP00000370719:p.Lys1579Arg		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	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.K1579R	ENST00000381318.3	37	c.4736	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	A	16.04	3.009838	0.54361	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442;ENST00000415023	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.58	5.58	0.84498	Pleckstrin homology-type (1);	0.056937	0.64402	D	0.000001	T	0.60534	0.2276	L	0.60455	1.87	0.80722	D	1	B;B;B	0.26483	0.15;0.006;0.006	B;B;B	0.25987	0.065;0.003;0.003	T	0.59161	-0.7506	10	0.44086	T	0.13	.	15.7282	0.77780	1.0:0.0:0.0:0.0	.	1518;1574;1579	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	R	1579;1579;1508;1574;1518;115	ENSP00000370719:K1579R;ENSP00000370685:K1579R;ENSP00000382301:K1574R;ENSP00000387377:K1518R;ENSP00000409800:K115R	ENSP00000370685:K1579R	K	+	2	0	ITSN1	34179274	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.808000	0.69165	2.246000	0.74042	0.533000	0.62120	AAG	ITSN1	-	NULL	ENSG00000205726		0.522	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4		0	61	0	A	NM_003024		35257404	1			no_errors	ENST00000381285	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	G	G	35257404	A	G	35257404	3	3	125	1	0	0	0	0	1	0	0	0	7953	72	3	4	4884	4	ITSN1	21	35257404	Missense_Mutation	SNP	A	TCGA-LN-A7HW-01A-22D-A351-09	334714	35257404	12872491	129	32409											
MORC3	23515	genome.wustl.edu	37	chr21	37709264	37709264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttgacattcaccgacaatGggaatggtatgacttctgat	11	12	10	8	1	2	3	1	3	1	0	2	5	2	4	1	2	0	2	1	2	3	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr21:37709264G>T	ENST00000400485.1	+	3	281	c.205G>T	c.(205-207)Ggg>Tgg	p.G69W	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	69					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						CACCGACAATGGGAATGGTAT	0.343																																																	0													117	109	112					21																	37709264		1877	4120	5997	SO:0001583	missense	0			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.205G>T	21.37:g.37709264G>T	ENSP00000383333:p.Gly69Trp		A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.G69W	ENST00000400485.1	37	c.205	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	G	32	5.117150	0.94385	.	.	ENSG00000159256	ENST00000400485	D	0.98849	-5.18	5.84	5.84	0.93424	ATPase-like, ATP-binding domain (3);	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	0.97110	1.0	D	0.97960	1.0337	10	0.87932	D	0	-14.8831	20.1535	0.98095	0.0:0.0:1.0:0.0	.	69	Q14149	MORC3_HUMAN	W	69	ENSP00000383333:G69W	ENSP00000383333:G69W	G	+	1	0	MORC3	36631134	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.212000	0.95126	2.764000	0.94973	0.650000	0.86243	GGG	MORC3	-	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd	ENSG00000159256		0.343	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	-	0	133	0	G	NM_015358		37709264	1	tier1	-	no_errors	ENST00000400485	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	37709264	G	T	37709264	3	4	125	1	0	0	0	0	1	0	0	0	9741	1348	47	3	215	3	MORC3	21	37709264	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	2451860	37709264	10420631	130	32410											
COL18A1	80781	genome.wustl.edu	37	chr21	46888269	46888269	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cctacgtctttgggccagatGccaacagtggccaagtggcc	8	8	12	13	1	1	1	0	0	1	1	1	1	1	1	5	3	3	0	5	3	3	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr21:46888269G>T	ENST00000359759.4	+	2	1486	c.1465G>T	c.(1465-1467)Gcc>Tcc	p.A489S	COL18A1_ENST00000400337.2_Missense_Mutation_p.A74S|COL18A1_ENST00000355480.5_Missense_Mutation_p.A254S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	489	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGGCCAGATGCCAACAGTGG	0.667																																																	0													73	84	81					21																	46888269		2042	4179	6221	SO:0001583	missense	0				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.1465G>T	21.37:g.46888269G>T	ENSP00000352798:p.Ala489Ser		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.A489S	ENST00000359759.4	37	c.1465		21	.	.	.	.	.	.	.	.	.	.	G	7.927	0.739905	0.15642	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.02085	4.46;4.46;4.46	4.65	2.77	0.32553	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.275572	0.34025	N	0.004331	T	0.01800	0.0057	L	0.28274	0.84	0.37706	D	0.924404	P;B;B	0.36753	0.568;0.275;0.275	B;B;B	0.36608	0.229;0.096;0.096	T	0.63492	-0.6625	10	0.18276	T	0.48	.	8.0032	0.30310	0.0867:0.0:0.7498:0.1635	.	489;254;74	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	S	74;74;254;489;489	ENSP00000383191:A74S;ENSP00000347665:A254S;ENSP00000352798:A489S	ENSP00000347665:A254S	A	+	1	0	COL18A1	45712697	0.921000	0.31238	0.152000	0.22495	0.081000	0.17604	1.305000	0.33493	0.452000	0.26830	0.655000	0.94253	GCC	COL18A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000182871		0.667	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1		0	91	0	G			46888269	1			no_errors	ENST00000359759	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.968	T	T	46888269	G	T	46888269	3	4	125	1	0	0	0	0	1	0	0	0	3682	1319	46	3	1585	3	COL18A1	21	46888269	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	9179005	46888269	1241626	131	32411											
CLTCL1	8218	genome.wustl.edu	37	chr22	19210297	19210297	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagccaaaacgatcacacacGatgatgaggggaagctggtc	15	5	12	9	2	1	2	1	2	0	0	2	5	1	3	1	3	3	1	1	3	4	0			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr22:19210297G>A	ENST00000263200.10	-	15	2400	c.2328C>T	c.(2326-2328)atC>atT	p.I776I	CLTCL1_ENST00000353891.5_Silent_p.I776I|CLTCL1_ENST00000427926.1_Silent_p.I776I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	776	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)	p.I776I(1)		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)					GATCACACACGATGATGAGGG	0.502			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	1	Substitution - coding silent(1)	endometrium(1)											98	101	100					22																	19210297		2109	4216	6325	SO:0001819	synonymous_variant	0				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.2328C>T	22.37:g.19210297G>A			B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.I776	ENST00000263200.10	37	c.2328	CCDS46662.1	22																																																																																			CLTCL1	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.502	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	-	0	84	0	G	NM_007098		19210297	-1	tier1	-	no_errors	ENST00000263200	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.911	A	A	19210297	G	A	19210297	2	1	125	1	0	0	0	0	0	0	0	1	3574	1048	37	1		1	CLTCL1	22	19210297	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		19210297	32094269	132	32412											
DGCR6L	85359	genome.wustl.edu	37	chr22	20307414	20307414	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcgtacctgggcaactccTtcaccaggctctgtagcgcc	6	9	10	16	2	2	0	1	0	1	0	3	0	3	0	4	2	4	4	4	2	3	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr22:20307414T>C	ENST00000248879.3	-	1	189	c.98A>G	c.(97-99)aAg>aGg	p.K33R	DGCR6L_ENST00000405465.3_Missense_Mutation_p.K33R|XXbac-B444P24.14_ENST00000609632.1_lincRNA|XXbac-B444P24.13_ENST00000608275.1_RNA	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	33						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					GGGCAACTCCTTCACCAGGCT	0.716																																																	0													19	19	19					22																	20307414		2198	4294	6492	SO:0001583	missense	0			AF228708	CCDS13778.1	22q11.21	2013-02-19			ENSG00000128185	ENSG00000128185			18551	protein-coding gene	gene with protein product		609459				11157784	Standard	NM_033257		Approved	FLJ10666	uc002zrx.3	Q9BY27	OTTHUMG00000150583	ENST00000248879.3:c.98A>G	22.37:g.20307414T>C	ENSP00000248879:p.Lys33Arg		A8K1N7|B3KMC0|D3DX29|Q9BW33	Missense_Mutation	SNP	pfam_DGCR6	p.K33R	ENST00000248879.3	37	c.98	CCDS13778.1	22	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565075	0.65651	.	.	ENSG00000128185	ENST00000248879;ENST00000405465	T;T	0.33865	1.39;1.39	1.98	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.50993	1.605	0.33444	D	0.582759	P;B	0.45176	0.852;0.316	P;B	0.45712	0.491;0.097	T	0.42068	-0.9473	10	0.27082	T	0.32	-23.6994	7.9022	0.29742	0.0:0.0:0.0:1.0	.	33;33	B3KMC0;Q9BY27	.;DGC6L_HUMAN	R	33	ENSP00000248879:K33R;ENSP00000386052:K33R	ENSP00000248879:K33R	K	-	2	0	DGCR6L	18687414	1.000000	0.71417	0.986000	0.45419	0.594000	0.36715	4.806000	0.62569	1.160000	0.42584	0.260000	0.18958	AAG	DGCR6L	-	pfam_DGCR6	ENSG00000128185		0.716	DGCR6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6L	HGNC	protein_coding	OTTHUMT00000318970.3	-	0	49	0	T	NM_033257		20307414	-1	tier1	-	no_errors	ENST00000248879	ensembl	human	known	74_37	missense	48.21	29	27	SNP	1.000	C	C	20307414	T	C	20307414	3	2	125	1	0	0	0	0	1	0	0	0	4477	1609	56	4	584	4	DGCR6L	22	20307414	Missense_Mutation	SNP	T	TCGA-LN-A7HW-01A-22D-A351-09	1097117	20307414	30997152	133	32413											
SAMM50	25813	genome.wustl.edu	37	chr22	44372658	44372658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcatcgattctcggaattCttccatcttaccaaggagag	10	12	9	10	2	4	1	1	0	3	1	7	4	5	2	2	3	1	0	2	3	3	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr22:44372658C>G	ENST00000350028.4	+	9	963	c.806C>G	c.(805-807)tCt>tGt	p.S269C	SAMM50_ENST00000396202.3_Missense_Mutation_p.S59C	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	269					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TCTCGGAATTCTTCCATCTTA	0.448																																																	0													131	108	116					22																	44372658		2203	4300	6503	SO:0001583	missense	0			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.806C>G	22.37:g.44372658C>G	ENSP00000345445:p.Ser269Cys		Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	pfam_Bac_surfAg_D15	p.S269C	ENST00000350028.4	37	c.806	CCDS14055.1	22	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250356	0.59212	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.47869	0.83;0.83	5.23	5.23	0.72850	Bacterial surface antigen (D15) (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.63843	1.955	0.80722	D	1	B;B	0.25609	0.13;0.054	B;B	0.31390	0.129;0.093	T	0.52734	-0.8536	10	0.62326	D	0.03	-17.2435	16.3116	0.82873	0.0:1.0:0.0:0.0	.	74;269	B3KUE6;Q9Y512	.;SAM50_HUMAN	C	269;59	ENSP00000345445:S269C;ENSP00000379505:S59C	ENSP00000345445:S269C	S	+	2	0	SAMM50	42703991	1.000000	0.71417	0.891000	0.34965	0.998000	0.95712	7.015000	0.76387	2.603000	0.88011	0.650000	0.86243	TCT	SAMM50	-	pfam_Bac_surfAg_D15	ENSG00000100347		0.448	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2	-	0	102	0	C	NM_015380		44372658	1	tier1	-	no_errors	ENST00000350028	ensembl	human	known	74_37	missense	41.46	48	34	SNP	1.000	G	G	44372658	C	G	44372658	3	3	125	1	0	0	0	0	1	0	0	0	13874	913	32	5	840	5	SAMM50	22	44372658	Missense_Mutation	SNP	C	TCGA-LN-A7HW-01A-22D-A351-09	24065244	44372658	6931908	134	32414											
PHKA1	5255	genome.wustl.edu	37	chrX	71876026	71876026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagtatgtccagaacaatgGccattcacactcaatgtttt	14	12	6	9	0	2	1	2	0	0	1	3	1	3	1	2	1	1	2	2	1	5	4			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chrX:71876026G>A	ENST00000373542.4	-	10	1144	c.985C>T	c.(985-987)Cca>Tca	p.P329S	PHKA1_ENST00000373539.3_Missense_Mutation_p.P329S|PHKA1_ENST00000339490.3_Missense_Mutation_p.P329S|PHKA1_ENST00000541944.1_Missense_Mutation_p.P329S|PHKA1_ENST00000373545.3_Missense_Mutation_p.P329S	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	329					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)					CAGAACAATGGCCATTCACAC	0.393																																																	0													149	122	131					X																	71876026		2203	4300	6503	SO:0001583	missense	0				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.985C>T	X.37:g.71876026G>A	ENSP00000362643:p.Pro329Ser		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.P329S	ENST00000373542.4	37	c.985	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	g	23.5	4.428344	0.83667	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09	4.99	4.99	0.66335	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.98376	1.0556	10	0.87932	D	0	-11.9608	14.814	0.70017	0.0:0.0:1.0:0.0	.	329;329;329	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	S	329	ENSP00000362646:P329S;ENSP00000362643:P329S;ENSP00000441251:P329S;ENSP00000342469:P329S;ENSP00000362640:P329S	ENSP00000342469:P329S	P	-	1	0	PHKA1	71792751	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.326000	0.96389	2.081000	0.62600	0.279000	0.19357	CCA	PHKA1	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	ENSG00000067177		0.393	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1		0	35	0	G			71876026	-1			no_errors	ENST00000373539	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A	A	71876026	G	A	71876026	3	1	125	1	0	0	0	0	1	0	0	0	11882	1203	42	3	2778	3	PHKA1	23	71876026	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09		71876026	83394534	135	32415											
PCDH11X	27328	genome.wustl.edu	37	chrX	91518126	91518126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaatcagcggaaatctgaagGgaaagtggcaggaaaggtaa	18	5	14	4	1	2	1	1	1	1	0	2	4	2	4	0	5	1	2	0	5	6	1			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chrX:91518126G>A	ENST00000373094.1	+	4	3973	c.3128G>A	c.(3127-3129)gGg>gAg	p.G1043E	PCDH11X_ENST00000406881.1_Missense_Mutation_p.G1043E|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G1043E	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1043					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						AAATCTGAAGGGAAAGTGGCA	0.348																																					NSCLC(38;925 1092 2571 38200 45895)												0													46	41	43					X																	91518126		2201	4297	6498	SO:0001583	missense	0			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.3128G>A	X.37:g.91518126G>A	ENSP00000362186:p.Gly1043Glu		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1043E	ENST00000373094.1	37	c.3128	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	0.453	-0.892755	0.02491	.	.	ENSG00000102290	ENST00000373094;ENST00000504220;ENST00000406881;ENST00000356934	T;T;T	0.54279	0.74;0.58;0.76	4.37	3.44	0.39384	.	0.887861	0.09209	U	0.833567	T	0.46718	0.1407	N	0.19112	0.55	0.09310	N	0.999996	D;B;D	0.58268	0.982;0.004;0.969	P;B;P	0.51866	0.682;0.013;0.483	T	0.26360	-1.0105	10	0.27082	T	0.32	.	10.1122	0.42570	0.0:0.2247:0.7753:0.0	.	1043;1043;1043	Q9BZA7-6;Q9BZA7-8;Q9BZA7	.;.;PC11X_HUMAN	E	1043	ENSP00000362186:G1043E;ENSP00000423762:G1043E;ENSP00000384758:G1043E	ENSP00000349408:G1043E	G	+	2	0	PCDH11X	91404782	0.989000	0.36119	0.494000	0.27515	0.028000	0.11728	1.449000	0.35123	1.755000	0.51935	0.415000	0.27848	GGG	PCDH11X	-	NULL	ENSG00000102290		0.348	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	138	0	G	NM_032969		91518126	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	73.48	35	97	SNP	0.243	A	A	91518126	G	A	91518126	3	1	125	1	0	0	0	0	1	0	0	0	11547	1232	43	3	3224	3	PCDH11X	23	91518126	Missense_Mutation	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	19642100	91518126	63752434	136	32416											
DIAPH2	1730	genome.wustl.edu	37	chrX	96684668	96684668	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgatgagactggtgtGatggataatcttctagaagc	11	11	15	4	0	2	4	0	3	2	2	2	7	2	5	0	3	1	0	0	3	3	3			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chrX:96684668G>T	ENST00000324765.8	+	26	3512	c.3165G>T	c.(3163-3165)gtG>gtT	p.V1055V	DIAPH2_ENST00000355827.4_Silent_p.V1055V|DIAPH2_ENST00000373061.3_Silent_p.V1055V|DIAPH2-AS1_ENST00000439759.2_RNA|DIAPH2_ENST00000373049.4_Silent_p.V1055V|DIAPH2_ENST00000373054.4_Silent_p.V1051V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1055	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AGACTGGTGTGATGGATAATC	0.418																																																	0													82	73	76					X																	96684668		2203	4300	6503	SO:0001819	synonymous_variant	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3165G>T	X.37:g.96684668G>T			A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.V1055	ENST00000324765.8	37	c.3165	CCDS14467.1	X																																																																																			DIAPH2	-	pfam_Drf_DAD,smart_FH2_Formin	ENSG00000147202		0.418	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	-	0	75	0	G	NM_006729, NM_007309		96684668	1	tier1	-	no_errors	ENST00000324765	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	T	T	96684668	G	T	96684668	2	4	125	1	0	0	0	0	0	0	0	1	4533	1277	45	3		3	DIAPH2	23	96684668	Silent	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	5166542	96684668	58585892	137	32417											
SRPK3	26576	genome.wustl.edu	37	chrX	153047664	153047664	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggagtcaatggagtccGtatcctttgcaggaagagca	11	9	12	9	1	2	1	2	0	0	1	4	4	4	4	2	3	2	3	2	3	3	2			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chrX:153047664G>A	ENST00000370101.3	+	5	521		c.e5+1		SRPK3_ENST00000370108.3_Splice_Site|SRPK3_ENST00000370100.1_Splice_Site|SRPK3_ENST00000489426.1_Splice_Site|SRPK3_ENST00000370104.1_Splice_Site|SRPK3_ENST00000393786.3_Splice_Site	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3						cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	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)					AATGGAGTCCGTATCCTTTGC	0.577													G|||	1	0.000264901	8e-04	0	3775	,	,		13478	0		0	False		,,,				2504	0				Esophageal Squamous(167;766 3400 32156)												0													83	76	78					X																	153047664		2203	4300	6503	SO:0001630	splice_region_variant	0			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.475+1G>A	X.37:g.153047664G>A			Q13583|Q4F970|Q562F5|Q9UM62	Splice_Site	SNP	-	e5+1	ENST00000370101.3	37	c.475+1	CCDS35441.1	X	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850689	0.71719	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000430541;ENST00000370100	.	.	.	5.8	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.888	0.46978	0.1587:0.0:0.8413:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRPK3	152700858	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.328000	0.52052	0.606000	0.29965	-0.192000	0.12808	.	SRPK3	-	-	ENSG00000184343		0.577	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRPK3	HGNC	protein_coding	OTTHUMT00000354501.1		0	53	0	G	NM_014370	Intron	153047664	1			no_errors	ENST00000370101	ensembl	human	known	74_37	splice_site	10.20	44	5	SNP	1.000	A	A	153047664	G	A	153047664	5	1	125	1	0	0	0	0	0	0	1	0	15208	1159	40	1	494	1	SRPK3	23	153047664	Splice_Site	SNP	G	TCGA-LN-A7HW-01A-22D-A351-09	56362996	153047664	2222896	138	32418											
AGRN	375790	genome.wustl.edu	37	chr1	987191	987191	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacctcaacgctgtgaccGagaggtaacgtgccatcctc	10	8	10	13	3	1	2	1	1	0	1	3	3	2	2	4	1	4	3	4	1	3	2	rs139415524	byFrequency	TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:987191G>T	ENST00000379370.2	+	33	5697	c.5647G>T	c.(5647-5649)Gag>Tag	p.E1883*		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1887	Laminin G-like 3. {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)		CGCTGTGACCGAGAGGTAACG	0.652																																																	0													123	97	106					1																	987191		2203	4300	6503	SO:0001587	stop_gained	0			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.5647G>T	1.37:g.987191G>T	ENSP00000368678:p.Glu1883*		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom	p.E1883*	ENST00000379370.2	37	c.5647	CCDS30551.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.030906|11.030906	0.99505|0.99505	.|.	.|.	ENSG00000188157|ENSG00000188157	ENST00000379370;ENST00000379364|ENST00000419249	.|.	.|.	.|.	5.11|5.11	2.94|2.94	0.34122|0.34122	.|.	0.286819|.	0.27284|.	N|.	0.020069|.	.|T	.|0.29620	.|0.0739	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.25779	.|-1.0122	.|3	0.05436|.	T|.	0.98|.	-14.0265|-14.0265	2.7521|2.7521	0.05284|0.05284	0.183:0.0:0.5371:0.2798|0.183:0.0:0.5371:0.2798	.|.	.|.	.|.	.|.	X|L	1883;226|185	.|.	ENSP00000368671:E226X|.	E|R	+|+	1|2	0|0	AGRN|AGRN	977054|977054	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.238000|0.238000	0.25445|0.25445	4.838000|4.838000	0.62803|0.62803	2.409000|2.409000	0.81822|0.81822	0.555000|0.555000	0.69702|0.69702	GAG|CGA	AGRN	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000188157		0.652	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	-	0	102	0	G	NM_198576		987191	1	tier1	-	no_errors	ENST00000379370	ensembl	human	known	74_37	nonsense	33.33	26	13	SNP	0.970	T	T	987191	G	T	987191	4	4	126	1	0	0	0	0	0	1	0	0	397	1059	37	2	5777	2	AGRN	1	987191	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		987191	248263430	1	32419											
CCNL2	81669	genome.wustl.edu	37	chr1	1330816	1330816	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgcagaaacccaactctttGagaactcgtctttccgcctt	10	11	6	14	3	2	2	0	1	2	2	4	3	3	2	3	0	3	1	3	0	3	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:1330816G>C	ENST00000400809.3	-	4	557	c.552C>G	c.(550-552)ctC>ctG	p.L184L	CCNL2_ENST00000408918.4_Silent_p.L184L|CCNL2_ENST00000408952.5_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	184	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)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	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;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCAACTCTTTGAGAACTCGTC	0.542																																																	0													126	127	126					1																	1330816		2203	4300	6503	SO:0001819	synonymous_variant	0			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.552C>G	1.37:g.1330816G>C			A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.L184	ENST00000400809.3	37	c.552	CCDS30557.1	1																																																																																			CCNL2	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	ENSG00000221978		0.542	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	HGNC	protein_coding	OTTHUMT00000008146.2	-	0	71	0	G	NM_030937		1330816	-1	tier1	-	no_errors	ENST00000400809	ensembl	human	known	74_37	silent	20.41	39	10	SNP	0.981	C	C	1330816	G	C	1330816	2	2	126	1	0	0	0	0	0	0	0	1	2939	1277	45	5		5	CCNL2	1	1330816	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	343625	1330816	247919805	2	32420											
PRDM16	63976	genome.wustl.edu	37	chr1	3348663	3348663	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaattccaccttagattctGaggctttaaaacatacactg	13	14	5	9	0	1	2	0	1	1	1	2	2	2	2	2	1	2	1	2	1	5	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:3348663G>C	ENST00000270722.5	+	16	3704	c.3655G>C	c.(3655-3657)Gag>Cag	p.E1219Q	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.E1219Q|PRDM16_ENST00000511072.1_Intron|PRDM16_ENST00000442529.2_Missense_Mutation_p.E1218Q|PRDM16_ENST00000378398.3_Missense_Mutation_p.E1219Q|PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000441472.2_Missense_Mutation_p.E1218Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1219	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)		CTTAGATTCTGAGGCTTTAAA	0.552			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													81	89	86					1																	3348663		1952	4149	6101	SO:0001583	missense	0			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.3655G>C	1.37:g.3348663G>C	ENSP00000270722:p.Glu1219Gln		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E1219Q	ENST00000270722.5	37	c.3655	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026603	0.93518	.	.	ENSG00000142611	ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T	0.11169	2.84;2.85;2.93;2.93;2.85;2.8;2.81	5.01	5.01	0.66863	.	0.000000	0.48767	U	0.000166	T	0.35595	0.0937	M	0.73598	2.24	0.58432	D	0.99999	D;D;D;D	0.89917	0.999;0.963;1.0;0.999	D;P;D;D	0.91635	0.994;0.852;0.999;0.994	T	0.15492	-1.0435	10	0.72032	D	0.01	.	18.2948	0.90141	0.0:0.0:1.0:0.0	.	1219;1219;1218;1218	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Q	1219;1218;1218;1219;1219;1035;1035;1027	ENSP00000367651:E1219Q;ENSP00000407968:E1218Q;ENSP00000405253:E1218Q;ENSP00000367643:E1219Q;ENSP00000270722:E1219Q;ENSP00000422504:E1035Q;ENSP00000425796:E1027Q	ENSP00000270722:E1219Q	E	+	1	0	PRDM16	3338523	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.539000	0.82063	2.318000	0.78349	0.585000	0.79938	GAG	PRDM16	-	NULL	ENSG00000142611		0.552	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	-	0	33	0	G	NM_022114		3348663	1	tier1	-	no_errors	ENST00000270722	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	C	C	3348663	G	C	3348663	3	2	126	1	0	0	0	0	1	0	0	0	12499	1291	45	5	3717	5	PRDM16	1	3348663	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2017847	3348663	245901958	3	32421											
ARHGEF16	27237	genome.wustl.edu	37	chr1	3380122	3380122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcctaccgggcggccatGaagggcctggggaagccagg	9	4	16	12	2	0	1	0	1	0	0	1	2	1	2	5	6	2	0	5	6	4	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:3380122G>T	ENST00000378378.4	+	2	879	c.474G>T	c.(472-474)atG>atT	p.M158I	ARHGEF16_ENST00000378373.1_5'Flank	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	158				AM -> RG (in Ref. 4; AAH02681). {ECO:0000305}.	activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGGCGGCCATGAAGGGCCTGG	0.652																																																	0													9	13	12					1																	3380122		691	1583	2274	SO:0001583	missense	0			D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.474G>T	1.37:g.3380122G>T	ENSP00000367629:p.Met158Ile		Q86TF0|Q99434	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.M158I	ENST00000378378.4	37	c.474	CCDS46.2	1	.	.	.	.	.	.	.	.	.	.	G	3.836	-0.034804	0.07543	.	.	ENSG00000130762	ENST00000378378	T	0.61627	0.09	4.03	3.11	0.35812	.	0.077022	0.50627	D	0.000107	T	0.49338	0.1551	L	0.50919	1.6	0.80722	D	1	B	0.17268	0.021	B	0.10450	0.005	T	0.42310	-0.9459	10	0.30854	T	0.27	-34.3719	12.1549	0.54070	0.0858:0.0:0.9142:0.0	.	158	Q5VV41	ARHGG_HUMAN	I	158	ENSP00000367629:M158I	ENSP00000367629:M158I	M	+	3	0	ARHGEF16	3369982	1.000000	0.71417	0.981000	0.43875	0.447000	0.32167	3.226000	0.51254	0.822000	0.34565	-0.698000	0.03680	ATG	ARHGEF16	-	NULL	ENSG00000130762		0.652	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF16	HGNC	protein_coding	OTTHUMT00000001515.1	-	0	110	0	G	NM_014448		3380122	1	tier1	-	no_errors	ENST00000378378	ensembl	human	known	74_37	missense	6.15	60	4	SNP	1.000	T	T	3380122	G	T	3380122	3	4	126	1	0	0	0	0	1	0	0	0	899	1290	45	3	476	3	ARHGEF16	1	3380122	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	31459	3380122	245870499	4	32422											
SPEN	23013	genome.wustl.edu	37	chr1	16254623	16254623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacgactataaccaagatCgtacatattatgagagtgtt	14	12	7	8	2	0	2	0	1	0	2	1	4	0	2	2	0	3	2	2	0	7	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:16254623C>A	ENST00000375759.3	+	11	2092	c.1888C>A	c.(1888-1890)Cgt>Agt	p.R630S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	630	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAACCAAGATCGTACATATTA	0.408																																																	0													79	80	80					1																	16254623		2203	4300	6503	SO:0001583	missense	0				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.1888C>A	1.37:g.16254623C>A	ENSP00000364912:p.Arg630Ser		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R630S	ENST00000375759.3	37	c.1888	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107023	0.56291	.	.	ENSG00000065526	ENST00000375759	T	0.11169	2.8	4.54	4.54	0.55810	.	.	.	.	.	T	0.23926	0.0579	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01440	-1.1354	9	0.46703	T	0.11	-7.2375	17.8431	0.88720	0.0:1.0:0.0:0.0	.	630	Q96T58	MINT_HUMAN	S	630	ENSP00000364912:R630S	ENSP00000364912:R630S	R	+	1	0	SPEN	16127210	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.465000	0.60141	2.514000	0.84764	0.563000	0.77884	CGT	SPEN	-	NULL	ENSG00000065526		0.408	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1		0	54	0	C	NM_015001		16254623	1			no_errors	ENST00000375759	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	A	A	16254623	C	A	16254623	3	1	126	1	0	0	0	0	1	0	0	0	15085	884	31	2	1930	2	SPEN	1	16254623	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	12874501	16254623	232995998	5	32423											
KIAA0090	23065	genome.wustl.edu	37	chr1	19547286	19547286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttgggatctcggggcGgcggggatccagcaaagcct	6	9	16	10	3	2	0	0	0	2	0	4	2	3	2	2	6	2	2	2	6	1	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:19547286G>T	ENST00000477853.1	-	21	2686	c.2644C>A	c.(2644-2646)Cgc>Agc	p.R882S	EMC1_ENST00000480380.1_5'UTR|EMC1_ENST00000375208.3_Missense_Mutation_p.R860S|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.R881S	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	882						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											ATCTCGGGGCGGCGGGGATCC	0.512																																																	0													98	90	93					1																	19547286		2203	4300	6503	SO:0001583	missense	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2644C>A	1.37:g.19547286G>T	ENSP00000420608:p.Arg882Ser		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam	p.R882S	ENST00000477853.1	37	c.2644	CCDS190.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.367895|4.367895	0.82463|0.82463	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000486405|ENST00000477853;ENST00000375199;ENST00000375208	.|T;T;T	.|0.59364	.|0.27;0.28;0.29	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Domain of unknown function DUF1620 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81569|0.81569	0.4850|0.4850	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999	D|D	0.84646|0.84646	0.0698|0.0698	6|10	0.10902|0.87932	T|D	0.67|0	.|.	18.679|18.679	0.91540|0.91540	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|860;881;881;882	.|Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.|.;.;.;K0090_HUMAN	Q|S	114|882;881;860	.|ENSP00000420608:R882S;ENSP00000364345:R881S;ENSP00000364354:R860S	ENSP00000419345:P114Q|ENSP00000364345:R881S	P|R	-|-	2|1	0|0	KIAA0090|KIAA0090	19419873|19419873	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	4.423000|4.423000	0.59861|0.59861	2.750000|2.750000	0.94351|0.94351	0.655000|0.655000	0.94253|0.94253	CCG|CGC	EMC1	-	pfam_DUF1620	ENSG00000127463		0.512	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2		0	84	0	G	NM_015047		19547286	-1			no_errors	ENST00000477853	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	19547286	G	T	19547286	3	4	126	1	0	0	0	0	1	0	0	0	8180	1116	39	2	349	2	KIAA0090	1	19547286	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	3292663	19547286	229703335	6	32424											
ZDHHC18	84243	genome.wustl.edu	37	chr1	27159089	27159089	+	Frame_Shift_Del	DEL	A	A	-																															gtgaagcagccgccctggagAaacagatcggtgaggtttct																										TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:27159089delA	ENST00000374142.4	+	2	582	c.487delA	c.(487-489)aaafs	p.K163fs		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	163					cellular protein localization (GO:0034613)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|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)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CGCCCTGGAGAAACAGATCGG	0.557																																																	0													48	51	50					1																	27159089		2203	4300	6503	SO:0001589	frameshift_variant	0			AK056427	CCDS30650.1	1p36.11	2008-05-02			ENSG00000204160	ENSG00000204160		"Zinc fingers, DHHC-type"	20712	protein-coding gene	gene with protein product							Standard	NM_032283		Approved	DKFZp667O2416	uc001bnb.3	Q9NUE0	OTTHUMG00000004092	ENST00000374142.4:c.487delA	1.37:g.27159089delA	ENSP00000363257:p.Lys163fs		A6NHY9|B4DQ84|Q5JYH0|Q9H020	Frame_Shift_Del	DEL	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.K163fs	ENST00000374142.4	37	c.487	CCDS30650.1	1																																																																																			ZDHHC18	-	NULL	ENSG00000204160		0.557	ZDHHC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC18	HGNC	protein_coding	OTTHUMT00000011706.3		0	28	0	A	NM_032283		27159089	1	tier1		no_errors	ENST00000374142	ensembl	human	known	74_37	frame_shift_del	20.00	8	2	DEL	1.000	-	-	27159089	A	-	27159089	7	5	126	1	0	1	0	1	0	0	0	0	17656	247	9	0	493	0	ZDHHC18	1	27159089	Frame_Shift_Del	DEL	A	TCGA-LN-A7HX-01A-11D-A33E-09	7611803	27159089	222091532	7	32425											
KDM4A	9682	genome.wustl.edu	37	chr1	44134920	44134920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccctcgcccctgtgaGgcccacccatagctctgtgc	5	7	11	18	1	1	1	0	1	1	0	2	1	1	1	5	2	3	2	5	2	1	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:44134920G>T	ENST00000372396.3	+	10	1447	c.1313G>T	c.(1312-1314)aGg>aTg	p.R438M		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	438					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						GCCCCTGTGAGGCCCACCCAT	0.532																																																	0													145	136	139					1																	44134920		2203	4300	6503	SO:0001583	missense	0			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.1313G>T	1.37:g.44134920G>T	ENSP00000361473:p.Arg438Met		Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.R438M	ENST00000372396.3	37	c.1313	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096180	0.56075	.	.	ENSG00000066135	ENST00000372396	T	0.16073	2.37	5.23	4.07	0.47477	.	0.801478	0.12491	N	0.464270	T	0.18718	0.0449	L	0.53249	1.67	0.33002	D	0.526318	P;P	0.47350	0.894;0.875	B;B	0.41510	0.339;0.359	T	0.14980	-1.0453	10	0.45353	T	0.12	-26.2744	10.7163	0.46015	0.1257:0.0:0.8743:0.0	.	438;438	B4DT38;O75164	.;KDM4A_HUMAN	M	438	ENSP00000361473:R438M	ENSP00000361473:R438M	R	+	2	0	KDM4A	43907507	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.655000	0.37345	2.596000	0.87737	0.561000	0.74099	AGG	KDM4A	-	NULL	ENSG00000066135		0.532	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	-	0	85	0	G	NM_014663		44134920	1	tier1	-	no_errors	ENST00000372396	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	44134920	G	T	44134920	3	4	126	1	0	0	0	0	1	0	0	0	8155	1000	35	3	1347	3	KDM4A	1	44134920	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	16975831	44134920	205115701	8	32426											
CC2D1B	200014	genome.wustl.edu	37	chr1	52826727	52826727	+	Silent	SNP	G	G	A	0	0	1	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	aggccgttctcctcctcagaGccgcctgggtcagctacctc	5	9	10	17	2	3	1	2	0	1	1	6	1	4	1	6	2	3	2	6	2	1	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:52826727G>A	ENST00000371586.2	-	5	534	c.396C>T	c.(394-396)ggC>ggT	p.G132G	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.G132G	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	132	Glu-rich.					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						CCTCCTCAGAGCCGCCTGGGT	0.607																																																	0													104	98	100					1																	52826727		2203	4300	6503	SO:0001819	synonymous_variant	0			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.396C>T	1.37:g.52826727G>A			Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.G132	ENST00000371586.2	37	c.396	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	G	4.823	0.152937	0.09185	.	.	ENSG00000154222	ENST00000450942	.	.	.	4.71	2.81	0.32909	.	.	.	.	.	T	0.32734	0.0839	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	T	0.19811	-1.0294	4	.	.	.	0.8033	6.7468	0.23466	0.0968:0.1778:0.7255:0.0	.	.	.	.	V	73	.	.	A	-	2	0	CC2D1B	52599315	0.026000	0.19158	0.002000	0.10522	0.076000	0.17211	2.346000	0.44027	0.691000	0.31592	0.655000	0.94253	GCT	CC2D1B	-	NULL	ENSG00000154222		0.607	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1		0	51	0	G	NM_032449		52826727	-1			no_errors	ENST00000371586	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.007	A	A	52826727	G	A	52826727	2	1	126	1	0	0	0	0	0	0	0	1	2734	958	34	3		3	CC2D1B	1	52826727	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	8691807	52826727	196423894	9	32427											
LRRC7	57554	genome.wustl.edu	37	chr1	70484450	70484450	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcccatccagaaacaaagCaaagagtattgactaactac	19	6	6	10	0	0	3	0	1	0	2	1	3	1	3	2	0	5	2	2	0	7	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:70484450C>A	ENST00000035383.5	+	13	1285	c.1255C>A	c.(1255-1257)Caa>Aaa	p.Q419K	RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.Q424K|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	419						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGAAACAAAGCAAAGAGTATT	0.353																																																	0													114	107	109					1																	70484450		2203	4300	6503	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1255C>A	1.37:g.70484450C>A	ENSP00000035383:p.Gln419Lys		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Q419K	ENST00000035383.5	37	c.1255	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996824	0.54147	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.39056	1.1;1.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	N	0.14661	0.345	0.80722	D	1	B	0.19935	0.04	B	0.21546	0.035	T	0.15037	-1.0451	10	0.05525	T	0.97	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	419	Q96NW7	LRRC7_HUMAN	K	424;419;242	ENSP00000309245:Q424K;ENSP00000035383:Q419K	ENSP00000035383:Q419K	Q	+	1	0	LRRC7	70257038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.654000	0.61469	2.894000	0.99253	0.655000	0.94253	CAA	LRRC7	-	NULL	ENSG00000033122		0.353	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0	118	0	C	NM_020794		70484450	1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	14.67	64	11	SNP	1.000	A	A	70484450	C	A	70484450	3	1	126	1	0	0	0	0	1	0	0	0	9055	711	25	3	1305	3	LRRC7	1	70484450	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	17657723	70484450	178766171	10	32428											
MCOLN2	255231	genome.wustl.edu	37	chr1	85405236	85405236	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaatgggcttccctcacCtttgctttgatttccatttt	6	20	5	10	0	1	1	1	1	0	0	3	1	3	1	3	1	1	2	3	1	2	8			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:85405236C>A	ENST00000370608.3	-	9	1177	c.1110G>T	c.(1108-1110)aaG>aaT	p.K370N	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Splice_Site_p.K342N	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	370			K -> Q (in dbSNP:rs6704203).		calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CTTCCCTCACCTTTGCTTTGA	0.453																																																	0													93	90	91					1																	85405236		2203	4300	6503	SO:0001630	splice_region_variant	0			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1110+1G>T	1.37:g.85405236C>A			A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.K370N	ENST00000370608.3	37	c.1110	CCDS30762.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074133	0.76415	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.85339	-1.97;-1.96	5.18	4.27	0.50696	.	0.049543	0.85682	D	0.000000	D	0.90363	0.6984	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91090	0.4906	9	.	.	.	-32.2348	13.5554	0.61757	0.0:0.9245:0.0:0.0755	.	370	Q8IZK6	MCLN2_HUMAN	N	370;342	ENSP00000359640:K370N;ENSP00000284027:K342N	.	K	-	3	2	MCOLN2	85177824	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	4.689000	0.61723	1.169000	0.42739	0.563000	0.77884	AAG	MCOLN2	-	NULL	ENSG00000153898		0.453	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	MCOLN2	HGNC	protein_coding	OTTHUMT00000027567.2		0	39	0	C	NM_153259	Missense_Mutation	85405236	-1			no_errors	ENST00000370608	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	85405236	C	A	85405236	5	1	126	1	0	0	0	0	0	0	1	0	9434	695	24	3	614	3	MCOLN2	1	85405236	Splice_Site	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	14920786	85405236	163845385	11	32429											
GBP1	2633	genome.wustl.edu	37	chr1	89521730	89521730	+	Frame_Shift_Del	DEL	T	T	-																															tcctcggttcctcatagtacTttttcttcaggtcttgtagc																										TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:89521730delT	ENST00000370473.4	-	8	1556	c.1337delA	c.(1336-1338)aagfs	p.K446fs	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	446					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTCATAGTACTTTTTCTTCAG	0.443																																																	0													209	214	212					1																	89521730		2203	4300	6503	SO:0001589	frameshift_variant	0			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1337delA	1.37:g.89521730delT	ENSP00000359504:p.Lys446fs		D3DT26|Q5T8M1	Frame_Shift_Del	DEL	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.K446fs	ENST00000370473.4	37	c.1337	CCDS718.1	1																																																																																			GBP1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000117228		0.443	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3		0	243	0	T	NM_002053		89521730	-1	tier1		no_errors	ENST00000370473	ensembl	human	known	74_37	frame_shift_del	22.62	130	38	DEL	0.036	-	-	89521730	T	-	89521730	7	5	126	1	0	1	0	1	0	0	0	0	6298	1609	56	0	457	0	GBP1	1	89521730	Frame_Shift_Del	DEL	T	TCGA-LN-A7HX-01A-11D-A33E-09	4116494	89521730	159728891	12	32430											
BCAR3	8412	genome.wustl.edu	37	chr1	94033320	94033320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccttcatgcaggagtttgCtgaagggcttcagctgtttc	6	14	12	9	0	2	1	2	1	0	0	3	2	2	2	1	2	4	6	1	2	1	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:94033320C>T	ENST00000370244.1	-	12	2351	c.2063G>A	c.(2062-2064)aGc>aAc	p.S688N	BCAR3_ENST00000539242.1_Missense_Mutation_p.S364N|BCAR3_ENST00000370243.1_Missense_Mutation_p.S688N|BCAR3_ENST00000260502.6_Missense_Mutation_p.S688N|BCAR3_ENST00000370247.3_Missense_Mutation_p.S597N	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	688	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		CAGGAGTTTGCTGAAGGGCTT	0.537																																																	0													103	100	101					1																	94033320		2203	4300	6503	SO:0001583	missense	0			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.2063G>A	1.37:g.94033320C>T	ENSP00000359264:p.Ser688Asn		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.S688N	ENST00000370244.1	37	c.2063	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827919	0.71143	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.39	5.39	0.77823	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.131804	0.64402	D	0.000001	T	0.34279	0.0892	L	0.57536	1.79	0.43885	D	0.996502	P;D	0.59767	0.919;0.986	P;P	0.50490	0.595;0.642	T	0.16748	-1.0392	10	0.66056	D	0.02	-26.0744	19.1489	0.93479	0.0:1.0:0.0:0.0	.	688;597	O75815;Q5TEW3	BCAR3_HUMAN;.	N	597;688;688;688;364	ENSP00000359267:S597N;ENSP00000260502:S688N;ENSP00000359264:S688N;ENSP00000359263:S688N;ENSP00000441343:S364N	ENSP00000260502:S688N	S	-	2	0	BCAR3	93805908	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.398000	0.44486	2.517000	0.84864	0.561000	0.74099	AGC	BCAR3	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000137936		0.537	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1		0	52	0	C			94033320	-1			no_errors	ENST00000260502	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T	T	94033320	C	T	94033320	3	4	126	1	0	0	0	0	1	0	0	0	1350	797	28	3	426	3	BCAR3	1	94033320	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	4511590	94033320	155217301	13	32431											
RBM15	64783	genome.wustl.edu	37	chr1	110883406	110883406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caccacccgcctctgggtggGaggcctgggaccttgggttc	4	8	15	14	1	1	0	0	0	1	0	2	2	1	2	5	5	0	1	5	5	0	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:110883406G>C	ENST00000369784.3	+	1	2279	c.1379G>C	c.(1378-1380)gGa>gCa	p.G460A	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Missense_Mutation_p.G460A|RBM15_ENST00000602849.1_Missense_Mutation_p.G460A	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	460	RRM 3. {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)		CTCTGGGTGGGAGGCCTGGGA	0.498			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													67	72	71					1																	110883406		2203	4300	6503	SO:0001583	missense	0			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.1379G>C	1.37:g.110883406G>C	ENSP00000358799:p.Gly460Ala		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.G460A	ENST00000369784.3	37	c.1379	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921729	0.73213	.	.	ENSG00000162775	ENST00000369784	T	0.08546	3.08	4.94	4.94	0.65067	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.47455	D	0.000230	T	0.28499	0.0705	M	0.87758	2.905	0.80722	D	1	P;D	0.76494	0.864;0.999	P;D	0.91635	0.706;0.999	T	0.14587	-1.0467	10	0.72032	D	0.01	-9.0998	18.3212	0.90239	0.0:0.0:1.0:0.0	.	460;460	Q96T37-3;Q96T37	.;RBM15_HUMAN	A	460	ENSP00000358799:G460A	ENSP00000358799:G460A	G	+	2	0	RBM15	110684929	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.263000	0.95617	2.563000	0.86464	0.655000	0.94253	GGA	RBM15	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000162775		0.498	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2		0	45	0	G	NM_022768		110883406	1			no_errors	ENST00000369784	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	C	C	110883406	G	C	110883406	3	2	126	1	0	0	0	0	1	0	0	0	13161	1174	41	5	1381	5	RBM15	1	110883406	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	16850086	110883406	138367215	14	32432											
BCL9	607	genome.wustl.edu	37	chr1	147091533	147091533	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccagatgacccctagtgaAggctgggcacctgggggtac	9	7	14	11	0	0	3	0	2	0	1	0	3	0	3	4	4	2	3	4	4	4	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:147091533A>G	ENST00000234739.3	+	8	2312	c.1572A>G	c.(1570-1572)gaA>gaG	p.E524E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	524	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCCCTAGTGAAGGCTGGGCAC	0.612			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													61	70	67					1																	147091533		2203	4300	6503	SO:0001819	synonymous_variant	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1572A>G	1.37:g.147091533A>G			Q5T489	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.E524	ENST00000234739.3	37	c.1572	CCDS30833.1	1																																																																																			BCL9	-	NULL	ENSG00000116128		0.612	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	-	0	65	0	A	NM_004326		147091533	1	tier1	-	no_errors	ENST00000234739	ensembl	human	known	74_37	silent	42.42	19	14	SNP	0.911	G	G	147091533	A	G	147091533	2	3	126	1	0	0	0	0	0	0	0	1	1382	69	3	4		4	BCL9	1	147091533	Silent	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	36208127	147091533	102159088	15	32433											
PBXIP1	57326	genome.wustl.edu	37	chr1	154924318	154924318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttcccatctgtcttggagGggctgtgaggggcctgcagg	4	11	16	10	0	2	1	0	1	2	0	3	2	3	2	2	6	1	2	2	6	0	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:154924318G>T	ENST00000368463.3	-	3	202	c.131C>A	c.(130-132)cCc>cAc	p.P44H	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P44H|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P15H|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000498553.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	44					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCTTGGAGGGGCTGTGAGG	0.562																																																	0													138	144	142					1																	154924318		2203	4300	6503	SO:0001583	missense	0			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.131C>A	1.37:g.154924318G>T	ENSP00000357448:p.Pro44His		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	NULL	p.P44H	ENST00000368463.3	37	c.131	CCDS1074.1	1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156561	0.38119	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000368460	T;T	0.13307	2.6;2.62	3.53	0.137	0.14787	.	0.917903	0.09144	N	0.842575	T	0.09291	0.0229	L	0.51422	1.61	0.09310	N	0.999997	D	0.61697	0.99	P	0.56474	0.799	T	0.14811	-1.0459	10	0.87932	D	0	0.9675	3.0983	0.06317	0.2606:0.0:0.5368:0.2026	.	44	Q96AQ6	PBIP1_HUMAN	H	15;44;44;44	ENSP00000357450:P15H;ENSP00000357448:P44H	ENSP00000295523:P44H	P	-	2	0	PBXIP1	153190942	0.106000	0.21978	0.001000	0.08648	0.009000	0.06853	0.861000	0.27885	0.044000	0.15775	0.555000	0.69702	CCC	PBXIP1	-	NULL	ENSG00000163346		0.562	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PBXIP1	HGNC	protein_coding	OTTHUMT00000090943.1		0	41	0	G	NM_020524		154924318	-1			no_errors	ENST00000490230	ensembl	human	known	74_37	missense	16.67	10	2	SNP	0.001	T	T	154924318	G	T	154924318	3	4	126	1	0	0	0	0	1	0	0	0	11535	1232	43	3	2100	3	PBXIP1	1	154924318	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	7832785	154924318	94326303	16	32434											
ARHGEF2	9181	genome.wustl.edu	37	chr1	155920753	155920753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagggcggccagctgccttCgagcctcttcggcctcacgc	4	7	12	18	4	2	0	1	0	1	0	4	1	2	0	5	3	3	1	5	3	0	2	rs533748068	byFrequency	TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:155920753C>T	ENST00000361247.4	-	20	2669	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q	ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R902Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R856Q|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R858Q|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R829Q|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R829Q	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	857					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)					CAGCTGCCTTCGAGCCTCTTC	0.726													C|||	2	0.000399361	0	0	5008	,	,		10697	0.001		0	False		,,,				2504	0.001				Melanoma(178;35 2768 6610 28839)												0													11	14	13					1																	155920753		2133	4176	6309	SO:0001583	missense	0			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.2570G>A	1.37:g.155920753C>T	ENSP00000354837:p.Arg857Gln		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R858Q	ENST00000361247.4	37	c.2573	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345526	0.41498	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.12	4.18	0.49190	.	0.201302	0.25264	N	0.031928	T	0.04182	0.0116	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.26318	0.052;0.008;0.014;0.146	B;B;B;B	0.12156	0.002;0.002;0.004;0.007	T	0.24476	-1.0159	10	0.32370	T	0.25	-21.7401	7.9756	0.30153	0.0:0.821:0.0:0.179	.	901;857;856;858	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	Q	829;857;858;829;856	ENSP00000315325:R829Q;ENSP00000354837:R857Q;ENSP00000357298:R858Q;ENSP00000357299:R829Q;ENSP00000314787:R856Q	ENSP00000314787:R856Q	R	-	2	0	ARHGEF2	154187377	0.022000	0.18835	0.960000	0.40013	0.800000	0.45204	0.760000	0.26475	2.660000	0.90430	0.655000	0.94253	CGA	ARHGEF2	-	NULL	ENSG00000116584		0.726	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2		0	21	0	C	NM_004723		155920753	-1			no_errors	ENST00000368315	ensembl	human	known	74_37	missense	30.00	7	3	SNP	0.301	T	T	155920753	C	T	155920753	3	4	126	1	0	0	0	0	1	0	0	0	903	884	31	1	402	1	ARHGEF2	1	155920753	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	996435	155920753	93329868	17	32435											
TTC24	164118	genome.wustl.edu	37	chr1	156551436	156551436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcctatgtggagactgggGacccagccagaggccttgag	8	7	15	11	0	0	3	0	1	0	2	0	5	0	4	4	4	2	0	4	4	1	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:156551436G>T	ENST00000368237.3	+	1	280	c.280G>T	c.(280-282)Gac>Tac	p.D94Y	TTC24_ENST00000368236.3_Missense_Mutation_p.D94Y			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	94										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)					GGAGACTGGGGACCCAGCCAG	0.627																																																	0													33	40	38					1																	156551436		692	1591	2283	SO:0001583	missense	0				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.280G>T	1.37:g.156551436G>T	ENSP00000357220:p.Asp94Tyr		Q5T3H7	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D94Y	ENST00000368237.3	37	c.280	CCDS53379.1	1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.158907	0.57368	.	.	ENSG00000187862	ENST00000368236;ENST00000368237	T;T	0.78126	-1.15;-1.15	4.54	2.61	0.31194	.	0.159787	0.29501	N	0.011962	T	0.56659	0.2000	L	0.32530	0.975	0.31466	N	0.668966	.	.	.	.	.	.	T	0.56854	-0.7910	8	0.87932	D	0	-26.0945	6.3089	0.21154	0.3686:0.0:0.6314:0.0	.	.	.	.	Y	94	ENSP00000357219:D94Y;ENSP00000357220:D94Y	ENSP00000357219:D94Y	D	+	1	0	TTC24	154818060	0.997000	0.39634	1.000000	0.80357	0.852000	0.48524	0.931000	0.28871	1.130000	0.42092	0.462000	0.41574	GAC	TTC24	-	pfscan_TPR-contain_dom	ENSG00000187862		0.627	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC24	HGNC	protein_coding	OTTHUMT00000158547.1	-	0	73	0	G	XM_089384		156551436	1	tier1	-	no_errors	ENST00000368236	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.999	T	T	156551436	G	T	156551436	3	4	126	1	0	0	0	0	1	0	0	0	16741	1174	41	3	282	3	TTC24	1	156551436	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	630683	156551436	92699185	18	32436											
NES	10763	genome.wustl.edu	37	chr1	156642109	156642109	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccttttgcagggattgcaatGtctgtgtgtcctcttttcct	4	18	9	10	0	2	0	0	0	2	0	4	1	4	1	3	1	2	2	3	1	1	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:156642109G>T	ENST00000368223.3	-	4	2003	c.1871C>A	c.(1870-1872)aCa>aAa	p.T624K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	624	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGATTGCAATGTCTGTGTGTC	0.378																																																	0													95	96	96					1																	156642109		2203	4300	6503	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1871C>A	1.37:g.156642109G>T	ENSP00000357206:p.Thr624Lys		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.T624K	ENST00000368223.3	37	c.1871	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312199	0.40895	.	.	ENSG00000132688	ENST00000368223	D	0.86097	-2.07	5.0	0.329	0.15924	.	0.580848	0.13267	N	0.400818	T	0.65903	0.2736	M	0.72894	2.215	0.09310	N	1	B	0.30763	0.294	B	0.24974	0.057	T	0.60409	-0.7269	10	0.87932	D	0	.	2.4043	0.04409	0.1877:0.1255:0.5089:0.1779	.	624	P48681	NEST_HUMAN	K	624	ENSP00000357206:T624K	ENSP00000357206:T624K	T	-	2	0	NES	154908733	0.000000	0.05858	0.004000	0.12327	0.471000	0.32888	-0.218000	0.09240	0.136000	0.18733	0.467000	0.42956	ACA	NES	-	NULL	ENSG00000132688		0.378	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0	75	0	G	NM_006617		156642109	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.001	T	T	156642109	G	T	156642109	3	4	126	1	0	0	0	0	1	0	0	0	10376	1377	48	3	2998	3	NES	1	156642109	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	90673	156642109	92608512	19	32437											
OR10R2	343406	genome.wustl.edu	37	chr1	158449927	158449927	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttccttggcattctctCaacatctgagaccttctaca	8	15	4	14	0	5	1	1	1	4	1	7	2	6	1	2	1	2	1	2	1	2	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:158449927C>A	ENST00000368152.1	+	1	260	c.260C>A	c.(259-261)tCa>tAa	p.S87*	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S87L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGCATTCTCTCAACATCTGAG	0.433																																																	1	Substitution - Missense(1)	endometrium(1)											292	248	263					1																	158449927		2203	4300	6503	SO:0001587	stop_gained	0			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.260C>A	1.37:g.158449927C>A	ENSP00000357134:p.Ser87*		Q5VWM8|Q6IFS1|Q96R61	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S87*	ENST00000368152.1	37	c.260	CCDS30898.1	1	.	.	.	.	.	.	.	.	.	.	c	17.48	3.400100	0.62177	.	.	ENSG00000198965	ENST00000368152	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6427	0.77020	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000357134:S87X	S	+	2	0	OR10R2	156716551	0.016000	0.18221	0.404000	0.26397	0.810000	0.45777	2.622000	0.46427	2.170000	0.68504	0.655000	0.94253	TCA	OR10R2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198965		0.433	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	HGNC	protein_coding	OTTHUMT00000051847.2		0	37	0	C	NM_001004472		158449927	1			no_errors	ENST00000368152	ensembl	human	known	74_37	nonsense	10.71	25	3	SNP	0.039	A	A	158449927	C	A	158449927	4	1	126	1	0	0	0	0	0	1	0	0	10956	838	29	3	262	3	OR10R2	1	158449927	Nonsense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	1807818	158449927	90800694	20	32438											
POU2F1	5451	genome.wustl.edu	37	chr1	167343528	167343528	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcagcccatacagatcGcacaggtgagtgaggaactc	11	8	11	11	1	1	3	1	2	1	1	4	4	1	4	1	2	3	1	1	2	2	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:167343528G>C	ENST00000541643.3	+	7	679	c.517G>C	c.(517-519)Gca>Cca	p.A173P	POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000452019.1_Missense_Mutation_p.A173P|POU2F1_ENST00000367866.2_Missense_Mutation_p.A196P|POU2F1_ENST00000367862.5_Missense_Mutation_p.A185P|POU2F1_ENST00000420254.3_Missense_Mutation_p.A173P|POU2F1_ENST00000367865.1_3'UTR			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	173					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						CATACAGATCGCACAGGTGAG	0.532																																																	0													25	26	26					1																	167343528		2201	4300	6501	SO:0001583	missense	0			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.517G>C	1.37:g.167343528G>C	ENSP00000441285:p.Ala173Pro		B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.A196P	ENST00000541643.3	37	c.586		1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527453	0.64860	.	.	ENSG00000143190	ENST00000367866;ENST00000452019;ENST00000492850;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.31;-2.3;-2.16	5.77	5.77	0.91146	.	0.114774	0.36555	N	0.002539	D	0.90796	0.7110	L	0.52573	1.65	0.53005	D	0.999962	D;D;D;D	0.76494	0.999;0.993;0.993;0.966	D;P;P;P	0.70487	0.969;0.74;0.883;0.554	D	0.90325	0.4347	10	0.56958	D	0.05	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	173;185;171;173	P14859-4;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	P	196;173;50;171;173;173;185;81	ENSP00000356840:A196P;ENSP00000356839:A171P;ENSP00000414660:A173P;ENSP00000441285:A173P;ENSP00000356836:A185P;ENSP00000415993:A81P	ENSP00000356836:A185P	A	+	1	0	POU2F1	165610152	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.653000	0.46691	2.732000	0.93576	0.650000	0.86243	GCA	POU2F1	-	NULL	ENSG00000143190		0.532	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	POU2F1	HGNC	protein_coding		-	0	57	0	G	NM_002697		167343528	1	tier1	-	no_errors	ENST00000367866	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	C	C	167343528	G	C	167343528	3	2	126	1	0	0	0	0	1	0	0	0	12310	1087	38	5	535	5	POU2F1	1	167343528	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	8893601	167343528	81907093	21	32439											
GPR52	9293	genome.wustl.edu	37	chr1	174417375	174417375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtggtggatgtctgcatcttCgagacagtggttattgtgtt	6	16	14	5	1	2	1	0	0	2	1	3	3	2	2	0	3	1	3	0	3	1	4	rs145259584		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:174417375C>G	ENST00000367685.2	+	1	164	c.126C>G	c.(124-126)ttC>ttG	p.F42L	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	42					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TCTGCATCTTCGAGACAGTGG	0.453																																					Ovarian(92;924 1390 1930 16467 40583)												0													227	193	204					1																	174417375		2203	4300	6503	SO:0001583	missense	0			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.126C>G	1.37:g.174417375C>G	ENSP00000356658:p.Phe42Leu		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F42L	ENST00000367685.2	37	c.126	CCDS30941.1	1	.	.	.	.	.	.	.	.	.	.	C	0.546	-0.851575	0.02651	.	.	ENSG00000203737	ENST00000367685	T	0.34072	1.38	5.68	-1.76	0.08006	.	0.219325	0.31531	N	0.007495	T	0.08537	0.0212	N	0.01352	-0.895	0.25587	N	0.986733	B	0.02656	0.0	B	0.01281	0.0	T	0.38178	-0.9673	10	0.02654	T	1	-9.8021	7.5453	0.27764	0.0:0.2355:0.1806:0.5839	.	42	Q9Y2T5	GPR52_HUMAN	L	42	ENSP00000356658:F42L	ENSP00000356658:F42L	F	+	3	2	GPR52	172683998	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	0.608000	0.24223	-0.165000	0.10908	-0.137000	0.14449	TTC	GPR52	-	prints_GPCR_Rhodpsn	ENSG00000203737		0.453	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	HGNC	protein_coding	OTTHUMT00000084511.1	-	0	60	0	C	NM_005684		174417375	1	tier1	-	no_errors	ENST00000367685	ensembl	human	known	74_37	missense	17.39	37	8	SNP	0.990	G	G	174417375	C	G	174417375	3	3	126	1	0	0	0	0	1	0	0	0	6724	883	31	5	128	5	GPR52	1	174417375	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	7073847	174417375	74833246	22	32440											
HMCN1	83872	genome.wustl.edu	37	chr1	185902946	185902946	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagccgcttcagttttcctCacagtgcaaggtacagtgct	8	12	9	12	1	3	0	3	0	0	0	4	0	4	0	2	1	4	5	2	1	2	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:185902946C>G	ENST00000271588.4	+	11	2047	c.1818C>G	c.(1816-1818)ctC>ctG	p.L606L	HMCN1_ENST00000367492.2_Silent_p.L606L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	606	Ig-like C2-type 2.				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						CAGTTTTCCTCACAGTGCAAG	0.403																																																	0													139	136	137					1																	185902946		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1818C>G	1.37:g.185902946C>G			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.L606	ENST00000271588.4	37	c.1818	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	110	0	C	NM_031935		185902946	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	19.30	46	11	SNP	0.901	G	G	185902946	C	G	185902946	2	3	126	1	0	0	0	0	0	0	0	1	7247	813	29	5		5	HMCN1	1	185902946	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	11485571	185902946	63347675	23	32441											
DDX59	83479	genome.wustl.edu	37	chr1	200635444	200635444	+	Frame_Shift_Del	DEL	T	T	-																															tgagttttgatttctcttccTtttccttaacttgtagaaga																										TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:200635444delT	ENST00000331314.6	-	2	638	c.425delA	c.(424-426)aagfs	p.K142fs	DDX59_ENST00000447706.2_Frame_Shift_Del_p.K142fs|DDX59_ENST00000367348.3_Frame_Shift_Del_p.K142fs	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	142						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TTTCTCTTCCTTTTCCTTAAC	0.408																																																	0													94	96	95					1																	200635444		2203	4300	6503	SO:0001589	frameshift_variant	0			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.425delA	1.37:g.200635444delT	ENSP00000330460:p.Lys142fs		Q6PJL2|Q8IVW3|Q9H0W3	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.K142fs	ENST00000331314.6	37	c.425	CCDS30964.1	1																																																																																			DDX59	-	NULL	ENSG00000118197		0.408	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX59	HGNC	protein_coding	OTTHUMT00000086883.2		0	55	0	T	NM_001031725.4		200635444	-1	tier1		no_errors	ENST00000331314	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	0.005	-	-	200635444	T	-	200635444	7	5	126	1	0	1	0	1	0	0	0	0	4385	1609	56	0	1462	0	DDX59	1	200635444	Frame_Shift_Del	DEL	T	TCGA-LN-A7HX-01A-11D-A33E-09	14732498	200635444	48615177	24	32442											
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200817688	200817688	+	Silent	SNP	T	T	G	0	1	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	aatgtaactgatacgaaaggTgccttgagtcccataactga	14	10	9	8	1	0	3	0	3	0	0	1	4	1	3	2	1	4	1	2	1	5	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:200817688T>G	ENST00000236925.4	+	12	1873	c.1824T>G	c.(1822-1824)ggT>ggG	p.G608G	CAMSAP2_ENST00000358823.2_Silent_p.G597G|CAMSAP2_ENST00000413307.2_Silent_p.G581G			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	608					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ATACGAAAGGTGCCTTGAGTC	0.358																																																	0													78	73	74					1																	200817688		2203	4299	6502	SO:0001819	synonymous_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1824T>G	1.37:g.200817688T>G			B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.G608	ENST00000236925.4	37	c.1824		1																																																																																			CAMSAP2	-	NULL	ENSG00000118200		0.358	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	-	0	64	0	T	NM_203459		200817688	1	tier1	-	no_errors	ENST00000236925	ensembl	human	known	74_37	silent	35.29	21	12	SNP	0.992	G	G	200817688	T	G	200817688	2	3	126	1	0	0	0	0	0	0	0	1	2619	1683	59	4		4	CAMSAP1L1	1	200817688	Silent	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09	182244	200817688	48432933	25	32443											
IGFN1	91156	genome.wustl.edu	37	chr1	201183353	201183353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacatggaagtgcagcCgggggaggccgccacactct	8	5	16	12	2	1	1	0	1	1	0	1	3	1	3	3	5	2	2	3	5	1	0	rs200414774	byFrequency	TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:201183353C>A	ENST00000335211.4	+	13	8907	c.8777C>A	c.(8776-8778)cCg>cAg	p.P2926Q	IGFN1_ENST00000451870.2_Missense_Mutation_p.P469Q|IGFN1_ENST00000295591.8_Missense_Mutation_p.P86Q	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	469						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						GAAGTGCAGCCGGGGGAGGCC	0.652																																																	0													40	33	36					1																	201183353		2203	4300	6503	SO:0001583	missense	0			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.8777C>A	1.37:g.201183353C>A	ENSP00000334714:p.Pro2926Gln		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P2926Q	ENST00000335211.4	37	c.8777	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	C	3.963	-0.009864	0.07727	.	.	ENSG00000163395	ENST00000335211;ENST00000451870;ENST00000295591	T;T;T	0.40756	1.02;1.02;1.02	3.39	-4.78	0.03209	.	1.418710	0.05198	N	0.504422	T	0.15176	0.0366	N	0.05306	-0.075	0.09310	N	1	B	0.18166	0.026	B	0.14023	0.01	T	0.11567	-1.0582	10	0.12430	T	0.62	.	0.5798	0.00710	0.4347:0.1402:0.1382:0.2869	.	2926	F8WAI1	.	Q	2926;469;86	ENSP00000334714:P2926Q;ENSP00000398386:P469Q;ENSP00000295591:P86Q	ENSP00000295591:P86Q	P	+	2	0	IGFN1	199449976	0.008000	0.16893	0.001000	0.08648	0.105000	0.19272	0.506000	0.22658	-1.405000	0.02048	-0.875000	0.02981	CCG	IGFN1	-	pfam_Ig_I-set,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000163395		0.652	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding			0	43	0	C	NM_178275		201183353	1			no_errors	ENST00000335211	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.007	A	A	201183353	C	A	201183353	3	1	126	1	0	0	0	0	1	0	0	0	7617	652	23	2	8823	2	IGFN1	1	201183353	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	365665	201183353	48067268	26	32444											
PKP1	5317	genome.wustl.edu	37	chr1	201297936	201297936	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aaccttagctggggccaacaGcctcaggaacttcacctccc	10	7	8	16	0	2	0	2	0	0	0	3	1	3	1	5	3	5	1	5	3	4	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:201297936G>T	ENST00000352845.3	+	14	2216	c.2216G>T	c.(2215-2217)aGc>aTc	p.S739I	PKP1_ENST00000263946.3_Missense_Mutation_p.S739I|PKP1_ENST00000367324.3_Missense_Mutation_p.S718I			Q13835	PKP1_HUMAN	plakophilin 1	739					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						GGGGCCAACAGCCTCAGGAAC	0.522																																																	0													179	169	172					1																	201297936		2203	4300	6503	SO:0001583	missense	0			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.2216G>T	1.37:g.201297936G>T	ENSP00000295597:p.Ser739Ile		O00645|Q14CA0|Q15152	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S739I	ENST00000352845.3	37	c.2216	CCDS30966.1	1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387385	0.42308	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.74526	-0.85;-0.76;-0.76	4.52	0.645	0.17782	.	0.694139	0.14375	N	0.323510	T	0.48021	0.1477	N	0.08118	0	0.24856	N	0.992373	B;B;B	0.16396	0.002;0.005;0.017	B;B;B	0.16289	0.008;0.015;0.006	T	0.41088	-0.9528	10	0.87932	D	0	-21.7456	2.2818	0.04116	0.163:0.3992:0.3086:0.1292	.	326;718;739	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	I	718;739;739	ENSP00000356293:S718I;ENSP00000263946:S739I;ENSP00000295597:S739I	ENSP00000263946:S739I	S	+	2	0	PKP1	199564559	0.995000	0.38212	0.999000	0.59377	0.997000	0.91878	1.687000	0.37680	0.677000	0.31305	0.511000	0.50034	AGC	PKP1	-	NULL	ENSG00000081277		0.522	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1		0	134	0	G	NM_000299		201297936	1			no_errors	ENST00000263946	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.991	T	T	201297936	G	T	201297936	3	4	126	1	0	0	0	0	1	0	0	0	12023	971	34	3	2270	3	PKP1	1	201297936	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	114583	201297936	47952685	27	32445											
KDM5B	10765	genome.wustl.edu	37	chr1	202742369	202742369	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggtagcaattttggtccaTtttctatccttgcaaacaac	10	16	6	9	0	1	0	0	0	1	0	3	0	3	0	2	2	4	3	2	2	5	8			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:202742369T>C	ENST00000367265.3	-	4	1617	c.453A>G	c.(451-453)aaA>aaG	p.K151K	KDM5B_ENST00000367264.2_Silent_p.K151K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	151	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				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						TTTTGGTCCATTTTCTATCCT	0.393																																																	0													153	134	141					1																	202742369		2203	4300	6503	SO:0001819	synonymous_variant	0			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.453A>G	1.37:g.202742369T>C			O95811|Q15752|Q9Y3Q5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.K151	ENST00000367265.3	37	c.453	CCDS30974.1	1																																																																																			KDM5B	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	ENSG00000117139		0.393	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	-	0	56	0	T	NM_006618		202742369	-1	tier1	-	no_errors	ENST00000367264	ensembl	human	known	74_37	silent	41.38	17	12	SNP	1.000	C	C	202742369	T	C	202742369	2	2	126	1	0	0	0	0	0	0	0	1	8161	1490	52	4		4	KDM5B	1	202742369	Silent	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09	1444433	202742369	46508252	28	32446											
TRAF5	7188	genome.wustl.edu	37	chr1	211526731	211526731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtgccttctgccactcGgtgcttcacaacccccacca	9	9	6	17	1	2	0	1	0	1	0	3	0	2	0	5	1	4	1	5	1	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:211526731G>A	ENST00000261464.5	+	2	204	c.150G>A	c.(148-150)tcG>tcA	p.S50S	TRAF5_ENST00000336184.2_Silent_p.S50S|TRAF5_ENST00000367004.3_Silent_p.S50S|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Silent_p.S50S	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	50					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S50S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TCTGCCACTCGGTGCTTCACA	0.567																																																	1	Substitution - coding silent(1)	lung(1)											81	67	72					1																	211526731		2203	4300	6503	SO:0001819	synonymous_variant	0			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.150G>A	1.37:g.211526731G>A			B4DIS9|B4E0A2|Q6FHY1	Silent	SNP	pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.S50	ENST00000261464.5	37	c.150	CCDS1497.1	1																																																																																			TRAF5	-	smart_Znf_RING,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_RING	ENSG00000082512		0.567	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	HGNC	protein_coding	OTTHUMT00000089825.1		0	22	0	G	NM_004619		211526731	1			no_errors	ENST00000261464	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.001	A	A	211526731	G	A	211526731	2	1	126	1	0	0	0	0	0	0	0	1	16492	1103	39	1		1	TRAF5	1	211526731	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	8784362	211526731	37723890	29	32447											
MARK1	4139	genome.wustl.edu	37	chr1	220808825	220808825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcacctgaaggtccaGagaagtatctcagcaaatca	13	8	8	12	0	3	2	3	1	1	1	5	3	4	2	3	1	2	3	3	1	4	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:220808825G>T	ENST00000366917.4	+	12	1496	c.1230G>T	c.(1228-1230)caG>caT	p.Q410H	MARK1_ENST00000402574.1_Missense_Mutation_p.Q275H|MARK1_ENST00000366918.4_Missense_Mutation_p.Q388H					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGAAGGTCCAGAGAAGTATCT	0.483																																																	0													81	76	78					1																	220808825		2203	4300	6503	SO:0001583	missense	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1230G>T	1.37:g.220808825G>T	ENSP00000355884:p.Gln410His			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.Q410H	ENST00000366917.4	37	c.1230	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726819	0.48833	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.56103	0.48;0.48;0.48	5.92	5.01	0.66863	.	0.121890	0.64402	D	0.000020	T	0.44159	0.1280	L	0.39147	1.195	0.44485	D	0.997427	B;B;B;B	0.23316	0.002;0.014;0.083;0.065	B;B;B;B	0.21151	0.006;0.02;0.033;0.033	T	0.25363	-1.0134	10	0.31617	T	0.26	.	14.5228	0.67863	0.0697:0.0:0.9303:0.0	.	410;275;410;388	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	H	275;388;410	ENSP00000386017:Q275H;ENSP00000355885:Q388H;ENSP00000355884:Q410H	ENSP00000355884:Q410H	Q	+	3	2	MARK1	218875448	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.420000	0.44679	2.813000	0.96785	0.561000	0.74099	CAG	MARK1	-	NULL	ENSG00000116141		0.483	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1		0	84	0	G			220808825	1			no_errors	ENST00000366917	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	220808825	G	T	220808825	3	4	126	1	0	0	0	0	1	0	0	0	9350	933	33	3	1276	3	MARK1	1	220808825	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	9282094	220808825	28441796	30	32448											
SUSD4	55061	genome.wustl.edu	37	chr1	223465838	223465838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctagggttccattaaaatGcttcaaacacagtctctttg	11	13	7	10	0	2	0	1	0	1	0	4	0	3	0	2	1	2	2	2	1	4	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:223465838G>T	ENST00000343846.3	-	2	937	c.304C>A	c.(304-306)Cat>Aat	p.H102N	SUSD4_ENST00000366878.4_Missense_Mutation_p.H102N|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.H102N|SUSD4_ENST00000494793.2_Missense_Mutation_p.H102N			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	102	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		CCATTAAAATGCTTCAAACAC	0.488																																																	0													136	137	136					1																	223465838		2203	4300	6503	SO:0001583	missense	0			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.304C>A	1.37:g.223465838G>T	ENSP00000344219:p.His102Asn		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.H102N	ENST00000343846.3	37	c.304	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	G	1.951	-0.441146	0.04604	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.60424	0.19;0.19;0.19	5.36	3.46	0.39613	Complement control module (2);Sushi/SCR/CCP (3);	0.282514	0.25319	N	0.031524	T	0.49355	0.1552	L	0.45137	1.4	0.18873	N	0.999989	B;B	0.27316	0.019;0.175	B;B	0.30179	0.019;0.112	T	0.28396	-1.0045	10	0.21014	T	0.42	-4.3472	13.8471	0.63474	0.0653:0.1116:0.8232:0.0	.	102;102	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	N	102	ENSP00000344219:H102N;ENSP00000355843:H102N;ENSP00000339926:H102N	ENSP00000271787:H102N	H	-	1	0	SUSD4	221532461	0.983000	0.35010	0.001000	0.08648	0.060000	0.15804	2.052000	0.41316	0.249000	0.21456	-1.134000	0.01955	CAT	SUSD4	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000143502		0.488	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	-	0	90	0	G	NM_017982		223465838	-1	tier1	-	no_errors	ENST00000343846	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.006	T	T	223465838	G	T	223465838	3	4	126	1	0	0	0	0	1	0	0	0	15457	1319	46	3	1349	3	SUSD4	1	223465838	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2657013	223465838	25784783	31	32449											
ITPKB	3707	genome.wustl.edu	37	chr1	226822416	226822416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	catctcggtcaggatgtcgaCgaggttattgagccccgaga	9	9	13	10	4	2	2	1	1	1	1	4	6	2	3	2	3	1	1	2	3	1	2	rs554325553		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:226822416C>T	ENST00000272117.3	-	7	2796	c.2797G>A	c.(2797-2799)Gtc>Atc	p.V933I	ITPKB_ENST00000429204.1_Missense_Mutation_p.V933I			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	933					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)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGGATGTCGACGAGGTTATTG	0.667													T|||	1	0.000199681	0	0	5008	,	,		17392	0.001		0	False		,,,				2504	0				Colon(84;110 1851 5306 33547)												0													62	53	56					1																	226822416		2203	4300	6503	SO:0001583	missense	0			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.2797G>A	1.37:g.226822416C>T	ENSP00000272117:p.Val933Ile		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	pfam_IPK	p.V933I	ENST00000272117.3	37	c.2797	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	T	0.609	-0.825775	0.02734	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.14144	2.53;2.53	5.06	3.91	0.45181	.	0.052233	0.64402	N	0.000001	T	0.02380	0.0073	N	0.00175	-1.925	0.09310	N	0.999994	B	0.02656	0.0	B	0.06405	0.002	T	0.44742	-0.9308	10	0.02654	T	1	-13.4995	9.6474	0.39877	0.0:0.1443:0.0:0.8557	.	933	P27987	IP3KB_HUMAN	I	933	ENSP00000272117:V933I;ENSP00000411152:V933I	ENSP00000272117:V933I	V	-	1	0	ITPKB	224889039	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	2.003000	0.40844	0.266000	0.21894	-0.361000	0.07541	GTC	ITPKB	-	pfam_IPK	ENSG00000143772		0.667	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	-	0	52	0	C	NM_002221		226822416	-1	tier1	-	no_errors	ENST00000272117	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	226822416	C	T	226822416	3	4	126	1	0	0	0	0	1	0	0	0	7945	536	19	1	47	1	ITPKB	1	226822416	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	3356578	226822416	22428205	32	32450											
ARV1	64801	genome.wustl.edu	37	chr1	231124099	231124099	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgtagacaaatatatcGagtatgatcctgttatcatc	14	13	6	8	1	1	2	1	1	0	1	4	3	2	2	2	0	1	3	2	0	7	5	rs144095931		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:231124099G>T	ENST00000310256.2	+	2	265	c.208G>T	c.(208-210)Gag>Tag	p.E70*	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Intron|AL844165.1_ENST00000516322.1_RNA	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	70					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CAAATATATCGAGTATGATCC	0.308																																																	0													139	152	147					1																	231124099		2202	4295	6497	SO:0001587	stop_gained	0			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"ARV1 homolog (yeast)"			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.208G>T	1.37:g.231124099G>T	ENSP00000312458:p.Glu70*		A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Nonsense_Mutation	SNP	pfam_Arv1	p.E70*	ENST00000310256.2	37	c.208	CCDS1589.1	1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289102	0.59976	.	.	ENSG00000173409	ENST00000310256	.	.	.	5.91	4.02	0.46733	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.1153	13.299	0.60313	0.0:0.122:0.7508:0.1272	.	.	.	.	X	70	.	ENSP00000312458:E70X	E	+	1	0	ARV1	229190722	1.000000	0.71417	0.764000	0.31436	0.186000	0.23388	9.184000	0.94893	0.819000	0.34492	-0.165000	0.13383	GAG	ARV1	-	pfam_Arv1	ENSG00000173409		0.308	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARV1	HGNC	protein_coding	OTTHUMT00000092362.2	-	0	80	0	G	NM_022786		231124099	1	tier1	-	no_errors	ENST00000310256	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	0.998	T	T	231124099	G	T	231124099	4	4	126	1	0	0	0	0	0	1	0	0	1003	1059	37	2	214	2	ARV1	1	231124099	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4301683	231124099	18126522	33	32451											
RYR2	6262	genome.wustl.edu	37	chr1	237787161	237787161	+	Missense_Mutation	SNP	A	A	G	1	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	atttccatgaagatttgatgAcacattgtggtaaggtcttt	11	16	9	5	0	1	4	0	3	1	1	2	4	2	4	1	2	0	1	1	2	2	5	rs373235823		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:237787161A>G	ENST00000366574.2	+	39	6330	c.6013A>G	c.(6013-6015)Aca>Gca	p.T2005A	RYR2_ENST00000360064.6_Missense_Mutation_p.T2003A|RYR2_ENST00000542537.1_Missense_Mutation_p.T1989A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2005	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGATTTGATGACACATTGTGG	0.308																																																	0								A	ALA/THR	0,3642		0,0,1821	108	105	105		6013	0.4	1	1		105	1,8151		0,1,4075	no	missense	RYR2	NM_001035.2	58	0,1,5896	GG,GA,AA		0.0123,0.0,0.0085	possibly-damaging	2005/4968	237787161	1,11793	1821	4076	5897	SO:0001583	missense	0			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.6013A>G	1.37:g.237787161A>G	ENSP00000355533:p.Thr2005Ala		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.T2003A	ENST00000366574.2	37	c.6007	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	A	0.677	-0.799577	0.02841	0.0	1.23E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.71698	-0.59;-0.59;-0.59	5.34	0.396	0.16309	.	0.298226	0.27509	N	0.019047	T	0.33933	0.0880	N	0.02247	-0.625	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.18555	-1.0333	10	0.06625	T	0.88	.	5.5188	0.16921	0.5191:0.0:0.3546:0.1263	.	2005	Q92736	RYR2_HUMAN	A	2005;2003;1989	ENSP00000355533:T2005A;ENSP00000353174:T2003A;ENSP00000443798:T1989A	ENSP00000353174:T2003A	T	+	1	0	RYR2	235853784	0.386000	0.25180	0.981000	0.43875	0.911000	0.54048	0.406000	0.21032	-0.105000	0.12132	-0.296000	0.09543	ACA	RYR2	-	NULL	ENSG00000198626		0.308	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0	106	0	A	NM_001035		237787161	1			no_errors	ENST00000360064	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.771	G	G	237787161	A	G	237787161	3	3	126	1	0	0	0	0	1	0	0	0	13814	275	10	4	6167	4	RYR2	1	237787161	Missense_Mutation	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	6663062	237787161	11463460	34	32452											
OR2C3	81472	genome.wustl.edu	37	chr1	247695440	247695440	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggagtggcctgcagatggcaGcgtagcggtcataggacatg	9	7	17	8	2	1	1	1	0	0	1	1	3	1	3	1	5	3	3	1	5	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:247695440G>T	ENST00000366487.3	-	2	735	c.374C>A	c.(373-375)gCt>gAt	p.A125D	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A124D(1)		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)			GCAGATGGCAGCGTAGCGGTC	0.567																																																	1	Substitution - Missense(1)	lung(1)											73	74	74					1																	247695440		2203	4300	6503	SO:0001583	missense	0			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.374C>A	1.37:g.247695440G>T	ENSP00000355443:p.Ala125Asp		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A125D	ENST00000366487.3	37	c.374	CCDS1634.2	1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930607	0.73327	.	.	ENSG00000196242	ENST00000366487	T	0.01902	4.57	3.89	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.238056	0.21479	U	0.073861	T	0.06416	0.0165	M	0.88906	2.99	0.25094	N	0.990838	P	0.50943	0.94	P	0.48030	0.564	T	0.14117	-1.0484	10	0.87932	D	0	.	5.1891	0.15199	0.3407:0.0:0.6593:0.0	.	125	Q8N628	OR2C3_HUMAN	D	125	ENSP00000355443:A125D	ENSP00000355443:A125D	A	-	2	0	OR2C3	245762063	0.002000	0.14202	0.861000	0.33841	0.972000	0.66771	1.695000	0.37763	0.971000	0.38288	0.650000	0.86243	GCT	OR2C3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196242		0.567	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	HGNC	protein_coding	OTTHUMT00000097626.2		0	43	0	G	NM_198074		247695440	-1			no_errors	ENST00000366487	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.985	T	T	247695440	G	T	247695440	3	4	126	1	0	0	0	0	1	0	0	0	11032	971	34	3	592	3	OR2C3	1	247695440	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	9908279	247695440	1555181	35	32453											
OR2T5	401993	genome.wustl.edu	37	chr1	248651977	248651977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgatccaaacatccagctCtacttagtgtggtcatcttt	10	13	7	11	1	3	0	1	0	2	0	5	2	5	0	2	1	3	1	2	1	3	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr1:248651977C>G	ENST00000366473.2	+	1	93	c.88C>G	c.(88-90)Cta>Gta	p.L30V		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L30I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACATCCAGCTCTACTTAGTGT	0.498																																																	1	Substitution - Missense(1)	lung(1)											152	166	162					1																	248651977		2199	4298	6497	SO:0001583	missense	0			BK004465	CCDS31118.1	1q44	2012-08-09			ENSG00000203661	ENSG00000203661		"GPCR / Class A : Olfactory receptors"	15017	protein-coding gene	gene with protein product							Standard	NM_001004697		Approved		uc001iem.1	Q6IEZ7	OTTHUMG00000040481	ENST00000366473.2:c.88C>G	1.37:g.248651977C>G	ENSP00000355429:p.Leu30Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L30V	ENST00000366473.2	37	c.88	CCDS31118.1	1	.	.	.	.	.	.	.	.	.	.	c	2.639	-0.284621	0.05605	.	.	ENSG00000203661	ENST00000366473	T	0.00631	6.09	2.64	0.415	0.16411	.	0.186913	0.26136	N	0.026121	T	0.00524	0.0017	L	0.33245	0.995	0.09310	N	1	B	0.15719	0.014	B	0.18871	0.023	T	0.49254	-0.8959	10	0.31617	T	0.26	.	0.6677	0.00853	0.2017:0.3704:0.1985:0.2294	.	30	Q6IEZ7	OR2T5_HUMAN	V	30	ENSP00000355429:L30V	ENSP00000355429:L30V	L	+	1	2	OR2T5	246718600	0.000000	0.05858	0.023000	0.16930	0.007000	0.05969	-4.510000	0.00223	-0.179000	0.10654	-0.891000	0.02926	CTA	OR2T5	-	prints_GPCR_Rhodpsn	ENSG00000203661		0.498	OR2T5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T5	HGNC	protein_coding	OTTHUMT00000097422.1		0	73	0	C	NM_001004697		248651977	1			no_errors	ENST00000366473	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.000	G	G	248651977	C	G	248651977	3	3	126	1	0	0	0	0	1	0	0	0	11067	912	32	5	90	5	OR2T5	1	248651977	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	956537	248651977	598644	36	32454											
KIDINS220	57498	genome.wustl.edu	37	chr2	8943200	8943200	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattcctcttcaaaatttCttttactgactgtgtgtaac	9	18	6	8	0	3	1	1	1	2	0	4	2	4	2	1	1	2	1	1	1	4	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:8943200C>A	ENST00000256707.3	-	8	842	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	KIDINS220_ENST00000319688.5_Nonsense_Mutation_p.E222*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.E179*|KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.E221*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.E221*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	221					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)					TTCAAAATTTCTTTTACTGAC	0.363																																																	0													122	109	113					2																	8943200		1873	4093	5966	SO:0001587	stop_gained	0			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.661G>T	2.37:g.8943200C>A	ENSP00000256707:p.Glu221*		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Nonsense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E221*	ENST00000256707.3	37	c.661	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.271595	0.98737	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	.	.	.	X	221;221;179;221;222;222	.	.	E	-	1	0	KIDINS220	8860651	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.398000	0.79919	2.880000	0.98712	0.650000	0.86243	GAA	KIDINS220	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000134313		0.363	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2		0	53	0	C	NM_020738		8943200	-1			no_errors	ENST00000256707	ensembl	human	known	74_37	nonsense	15.79	16	3	SNP	1.000	A	A	8943200	C	A	8943200	4	1	126	1	0	0	0	0	0	1	0	0	8298	922	32	3	4746	3	KIDINS220	2	8943200	Nonsense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09		8943200	234256173	37	32455											
CAD	790	genome.wustl.edu	37	chr2	27447238	27447238	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcggctgactgagcgcctCtgtccccctgggattcccac	5	8	12	16	2	1	2	0	2	1	0	3	4	3	3	4	2	2	1	4	2	0	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:27447238C>A	ENST00000403525.1	+	9	1278	c.1134C>A	c.(1132-1134)ctC>ctA	p.L378L	CAD_ENST00000264705.4_Silent_p.L378L			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAGCGCCTCTGTCCCCCTG	0.577																																																	0													56	57	57					2																	27447238		2203	4300	6503	SO:0001819	synonymous_variant	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1134C>A	2.37:g.27447238C>A			O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.L378	ENST00000403525.1	37	c.1134		2																																																																																			CAD	-	NULL	ENSG00000084774		0.577	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1		0	66	0	C			27447238	1			no_errors	ENST00000264705	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.987	A	A	27447238	C	A	27447238	2	1	126	1	0	0	0	0	0	0	0	1	2572	900	32	3		3	CAD	2	27447238	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	18504038	27447238	215752135	38	32456											
VAMP5	10791	genome.wustl.edu	37	chr2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggaatagagttggagCggtgccagcagcaggcgaac	12	4	17	8	2	0	1	0	0	0	1	0	4	0	3	1	5	5	4	1	5	3	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:85818866C>T	ENST00000306384.4	+	2	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	8	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602																																																	1	Substitution - Missense(1)	large_intestine(1)											99	86	90					2																	85818866		2203	4300	6503	SO:0001583	missense	0			AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"Vesicle-associated membrane proteins"	12646	protein-coding gene	gene with protein product	"myobrevin"	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.22C>T	2.37:g.85818866C>T	ENSP00000305647:p.Arg8Trp		Q9P0T2	Missense_Mutation	SNP	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin,pfscan_Synaptobrevin	p.R8W	ENST00000306384.4	37	c.22	CCDS1980.1	2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966516	0.74131	.	.	ENSG00000168899	ENST00000306384	T	0.46451	0.87	4.84	3.86	0.44501	Synaptobrevin (2);	0.510677	0.16936	N	0.193481	T	0.58163	0.2103	M	0.78456	2.415	0.26041	N	0.981608	D	0.76494	0.999	P	0.57846	0.828	T	0.52895	-0.8514	10	0.87932	D	0	.	11.017	0.47696	0.199:0.801:0.0:0.0	.	8	O95183	VAMP5_HUMAN	W	8	ENSP00000305647:R8W	ENSP00000305647:R8W	R	+	1	2	VAMP5	85672377	0.838000	0.29461	0.993000	0.49108	0.993000	0.82548	1.643000	0.37217	2.240000	0.73641	0.561000	0.74099	CGG	VAMP5	-	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin	ENSG00000168899		0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP5	HGNC	protein_coding	OTTHUMT00000252484.2		0	73	0	C	NM_006634		85818866	1			no_errors	ENST00000306384	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.882	T	T	85818866	C	T	85818866	3	4	126	1	0	0	0	0	1	0	0	0	17165	759	27	1	28	1	VAMP5	2	85818866	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	58371628	85818866	157380507	39	32457											
VPS24	51652	genome.wustl.edu	37	chr2	86733063	86733063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcactttactgggtgctttgCccaaggcccctgaaaagaaa	11	10	9	11	0	1	2	1	1	0	1	1	2	1	2	3	2	3	1	3	2	5	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:86733063C>T	ENST00000263856.4	-	6	661	c.533G>A	c.(532-534)gGc>gAc	p.G178D	CHMP3_ENST00000409727.1_Missense_Mutation_p.G138D|CHMP3_ENST00000409225.2_Missense_Mutation_p.G112D|CHMP3_ENST00000494623.1_5'Flank|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.G207D|CHMP3_ENST00000439940.2_Missense_Mutation_p.G207D	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	178	Interaction with VPS4A.|Intramolecular interaction with N- 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)											GGGTGCTTTGCCCAAGGCCCC	0.542																																																	0													55	50	52					2																	86733063		2203	4300	6503	SO:0001583	missense	0			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.533G>A	2.37:g.86733063C>T	ENSP00000263856:p.Gly178Asp		A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	pfam_Snf7	p.G207D	ENST00000263856.4	37	c.620	CCDS33236.1	2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810480	0.90707	.	.	ENSG00000115561	ENST00000263856;ENST00000409727;ENST00000409225;ENST00000439940	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	6.0	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.997	D	0.83983	0.0333	10	0.59425	D	0.04	-22.7894	14.9262	0.70881	0.0:0.9313:0.0:0.0687	.	207;138;178	Q9Y3E7-3;Q9Y3E7-4;Q9Y3E7	.;.;CHMP3_HUMAN	D	178;138;112;207	ENSP00000263856:G178D;ENSP00000387045:G138D;ENSP00000386590:G112D;ENSP00000405575:G207D	ENSP00000263856:G178D	G	-	2	0	VPS24	86586574	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.488000	0.81441	1.572000	0.49736	0.555000	0.69702	GGC	CHMP3	-	pfam_Snf7	ENSG00000115561		0.542	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP3	HGNC	protein_coding	OTTHUMT00000330015.2	-	0	26	0	C	NM_016079		86733063	-1	tier1	-	no_errors	ENST00000439940	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T	T	86733063	C	T	86733063	3	4	126	1	0	0	0	0	1	0	0	0	17244	739	26	3	139	3	VPS24	2	86733063	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	914197	86733063	156466310	40	32458											
ANKRD36B	57730	genome.wustl.edu	37	chr2	98167802	98167802	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctggttatattcgaaaaaGaatctttctcatcacttgtg	11	16	6	8	1	4	1	2	0	3	1	6	2	4	1	0	1	0	1	0	1	5	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:98167802G>C	ENST00000443455.1	-	0	1435							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		ATTCGAAAAAGAATCTTTCTC	0.313																																																	0													13	13	13					2																	98167802		1021	2275	3296			0			AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98167802G>C			Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	SNP	-	NULL	ENST00000443455.1	37	NULL		2																																																																																			ANKRD36B	-	-	ENSG00000196912		0.313	ANKRD36B-003	KNOWN	basic	processed_transcript	ANKRD36B	HGNC	pseudogene	OTTHUMT00000328967.2	-	0	297	0	G	NM_025190		98167802	-1	tier1	-	no_errors	ENST00000419390	ensembl	human	known	74_37	rna	13.07	132	20	SNP	0.034	C	C	98167802	G	C	98167802	1	2	126	0	1	0	0	0	0	0	0	0	666	942	33	5		5	ANKRD36B	2	98167802	RNA	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	11434739	98167802	145031571	41	32459											
POU3F3	5455	genome.wustl.edu	37	chr2	105473134	105473134	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggctggaggaggcggactCaagcaccggcagccccacaa	10	3	15	13	2	1	0	1	0	0	0	1	3	1	3	3	6	2	3	3	6	2	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:105473134C>G	ENST00000361360.2	+	1	1166	c.1166C>G	c.(1165-1167)tCa>tGa	p.S389*	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	389					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|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)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GAGGCGGACTCAAGCACCGGC	0.632																																																	0													49	48	48					2																	105473134		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1166C>G	2.37:g.105473134C>G	ENSP00000355001:p.Ser389*		P78379|Q4ZG25	Nonsense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.S389*	ENST00000361360.2	37	c.1166	CCDS33265.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.295352	0.97449	.	.	ENSG00000198914	ENST00000361360	.	.	.	4.14	4.14	0.48551	.	0.000000	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.1857	0.72999	0.0:1.0:0.0:0.0	.	.	.	.	X	389	.	ENSP00000355001:S389X	S	+	2	0	POU3F3	104839566	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.415000	0.66411	1.858000	0.53909	0.462000	0.41574	TCA	POU3F3	-	superfamily_Lambda_DNA-bd_dom,pirsf_Transcription_factor_POU	ENSG00000198914		0.632	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	POU3F3	HGNC	protein_coding	OTTHUMT00000329335.2	-	0	86	0	C			105473134	1	tier1	-	no_errors	ENST00000361360	ensembl	human	known	74_37	nonsense	31.58	26	12	SNP	1.000	G	G	105473134	C	G	105473134	4	3	126	1	0	0	0	0	0	1	0	0	12315	838	29	5	1168	5	POU3F3	2	105473134	Nonsense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	7305332	105473134	137726239	42	32460											
PSD4	23550	genome.wustl.edu	37	chr2	113940984	113940984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctatcagtgggcattgtacCcctccattccctgtgcccat	6	12	8	15	0	1	0	1	0	0	0	3	0	3	0	5	1	2	3	5	1	2	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:113940984C>T	ENST00000245796.6	+	2	1146	c.951C>T	c.(949-951)acC>acT	p.T317T	PSD4_ENST00000441564.3_Silent_p.T317T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	317					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						GGCATTGTACCCCTCCATTCC	0.617																																																	0													61	52	55					2																	113940984		2203	4300	6503	SO:0001819	synonymous_variant	0			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.951C>T	2.37:g.113940984C>T			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.T317	ENST00000245796.6	37	c.951	CCDS33276.1	2																																																																																			PSD4	-	NULL	ENSG00000125637		0.617	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	-	0	68	0	C	NM_012455		113940984	1	tier1	-	no_errors	ENST00000245796	ensembl	human	known	74_37	silent	33.33	25	13	SNP	0.001	T	T	113940984	C	T	113940984	2	4	126	1	0	0	0	0	0	0	0	1	12691	610	22	3		3	PSD4	2	113940984	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	8467850	113940984	129258389	43	32461											
DPP10	57628	genome.wustl.edu	37	chr2	116485404	116485404	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccagatttatatttttGaaaataatatctactatcaa	16	17	3	5	0	2	3	1	2	1	1	3	3	3	3	1	0	1	0	1	0	9	9			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:116485404G>T	ENST00000410059.1	+	8	1069	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	DPP10_ENST00000310323.8_Nonsense_Mutation_p.E190*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.E147*|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Nonsense_Mutation_p.E201*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	197						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.E190K(1)|p.E197K(1)		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						TTATATTTTTGAAAATAATAT	0.308																																																	2	Substitution - Missense(2)	lung(2)											35	40	38					2																	116485404		2174	4276	6450	SO:0001587	stop_gained	0			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.589G>T	2.37:g.116485404G>T	ENSP00000386565:p.Glu197*		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.E201*	ENST00000410059.1	37	c.601	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.111696	0.98659	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-29.2224	17.9983	0.89191	0.0:0.0:1.0:0.0	.	.	.	.	X	197;147;193;201;190;147	.	ENSP00000309066:E190X	E	+	1	0	DPP10	116201874	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.576000	0.98192	2.570000	0.86706	0.591000	0.81541	GAA	DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.308	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4		0	90	0	G	NM_020868		116485404	1			no_errors	ENST00000393147	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	1.000	T	T	116485404	G	T	116485404	4	4	126	1	0	0	0	0	0	1	0	0	4741	1291	45	3	790	3	DPP10	2	116485404	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2544420	116485404	126713969	44	32462											
PTPN4	5775	genome.wustl.edu	37	chr2	120723146	120723146	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tggagtccctgatgattcgaGtgactttctagattttgttt	7	18	10	6	1	1	4	0	3	1	1	3	6	2	5	1	1	0	1	1	1	1	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:120723146G>T	ENST00000263708.2	+	25	3254	c.2483G>T	c.(2482-2484)aGt>aTt	p.S828I	PTPN4_ENST00000544261.1_Missense_Mutation_p.S461I	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	828	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATGATTCGAGTGACTTTCTA	0.428																																																	0													159	139	146					2																	120723146		2203	4300	6503	SO:0001583	missense	0				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2483G>T	2.37:g.120723146G>T	ENSP00000263708:p.Ser828Ile		B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.S828I	ENST00000263708.2	37	c.2483	CCDS2129.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.351633|4.351633	0.82132|0.82132	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000441089|ENST00000263708;ENST00000544261	.|D;D	.|0.84146	.|-1.81;-1.81	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	.|0.038937	.|0.85682	.|D	.|0.000000	D|D	0.86414|0.86414	0.5927|0.5927	M|M	0.72894|0.72894	2.215|2.215	0.48135|0.48135	D|D	0.999595|0.999595	.|P	.|0.42993	.|0.797	.|B	.|0.40864	.|0.342	D|D	0.87790|0.87790	0.2618|0.2618	5|10	.|0.62326	.|D	.|0.03	.|.	19.6764|19.6764	0.95936|0.95936	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|828	.|P29074	.|PTN4_HUMAN	D|I	111|828;461	.|ENSP00000263708:S828I;ENSP00000445841:S461I	.|ENSP00000263708:S828I	E|S	+|+	3|2	2|0	PTPN4|PTPN4	120439616|120439616	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.783000|6.783000	0.75078|0.75078	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	GAG|AGT	PTPN4	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000088179		0.428	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2		0	158	0	G			120723146	1			no_errors	ENST00000263708	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	120723146	G	T	120723146	3	4	126	1	0	0	0	0	1	0	0	0	12835	1029	36	3	2577	3	PTPN4	2	120723146	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4237742	120723146	122476227	45	32463											
MBD5	55777	genome.wustl.edu	37	chr2	149226327	149226327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcacctgaataggactcCtctttctccaccttcagtaa	10	14	4	13	0	4	1	2	1	2	0	6	2	5	2	4	1	0	1	4	1	4	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:149226327C>A	ENST00000407073.1	+	9	1812	c.815C>A	c.(814-816)cCt>cAt	p.P272H	MBD5_ENST00000404807.1_Missense_Mutation_p.P272H	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	272					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)		AATAGGACTCCTCTTTCTCCA	0.453																																																	0													91	95	94					2																	149226327		2203	4300	6503	SO:0001583	missense	0			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.815C>A	2.37:g.149226327C>A	ENSP00000386049:p.Pro272His		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom	p.P272H	ENST00000407073.1	37	c.815	CCDS33302.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.26|16.26	3.072495|3.072495	0.55646|0.55646	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.61158	.|0.13;0.13	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	T|T	0.65471|0.65471	0.2694|0.2694	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.70992|0.70992	-0.4721|-0.4721	5|10	.|0.87932	.|D	.|0	-5.8045|-5.8045	19.0076|19.0076	0.92857|0.92857	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|272	.|Q9P267	.|MBD5_HUMAN	I|H	12|272	.|ENSP00000386049:P272H;ENSP00000384672:P272H	.|ENSP00000384672:P272H	L|P	+|+	1|2	0|0	MBD5|MBD5	148942797|148942797	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.445000|7.445000	0.80570|0.80570	2.571000|2.571000	0.86741|0.86741	0.591000|0.591000	0.81541|0.81541	CTC|CCT	MBD5	-	NULL	ENSG00000204406		0.453	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	-	0	51	0	C			149226327	1	tier1	-	no_errors	ENST00000407073	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	A	A	149226327	C	A	149226327	3	1	126	1	0	0	0	0	1	0	0	0	9385	681	24	3	829	3	MBD5	2	149226327	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	28503181	149226327	93973046	46	32464											
TNFAIP6	7130	genome.wustl.edu	37	chr2	152226702	152226702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaagatgacccaggttGcttggctgattatgttgaaa	10	13	11	7	0	0	5	0	4	0	1	0	5	0	5	2	2	1	4	2	2	3	5	rs375122098		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:152226702G>A	ENST00000243347.3	+	4	638	c.563G>A	c.(562-564)tGc>tAc	p.C188Y	RN7SL124P_ENST00000498656.2_RNA|MIR4773-1_ENST00000585225.1_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	188	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)	GACCCAGGTTGCTTGGCTGAT	0.418																																																	0													223	218	220					2																	152226702		2203	4300	6503	SO:0001583	missense	0				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.563G>A	2.37:g.152226702G>A	ENSP00000243347:p.Cys188Tyr		Q53TI7|Q8WWI9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Link,superfamily_CUB_dom,superfamily_C-type_lectin_fold,smart_Link,smart_CUB_dom,pfscan_CUB_dom,pfscan_Link,prints_Link	p.C188Y	ENST00000243347.3	37	c.563	CCDS2193.1	2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565676	0.86439	.	.	ENSG00000123610	ENST00000243347	T	0.31510	1.49	5.49	5.49	0.81192	CUB (5);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.84690	0.0722	10	0.87932	D	0	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	188	P98066	TSG6_HUMAN	Y	188	ENSP00000243347:C188Y	ENSP00000243347:C188Y	C	+	2	0	TNFAIP6	151934948	1.000000	0.71417	0.968000	0.41197	0.991000	0.79684	7.643000	0.83403	2.563000	0.86464	0.555000	0.69702	TGC	TNFAIP6	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000123610		0.418	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2	-	0	74	0	G	NM_007115		152226702	1	tier1	-	no_errors	ENST00000243347	ensembl	human	known	74_37	missense	33.93	37	19	SNP	1.000	A	A	152226702	G	A	152226702	3	1	126	1	0	0	0	0	1	0	0	0	16322	1319	46	3	577	3	TNFAIP6	2	152226702	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	3000375	152226702	90972671	47	32465											
NEB	4703	genome.wustl.edu	37	chr2	152348691	152348691	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgaatacctcggtagttaatGtcactgaagtcctgcatgtt	10	14	9	8	1	1	2	1	2	0	0	3	2	2	2	2	1	2	4	2	1	5	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:152348691G>T	ENST00000172853.10	-	145	19557	c.19410C>A	c.(19408-19410)gaC>gaA	p.D6470E	NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397336.2_Missense_Mutation_p.D301E|NEB_ENST00000509223.2_Missense_Mutation_p.D239E|NEB_ENST00000427231.2_Missense_Mutation_p.D8326E|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.D8326E|NEB_ENST00000409198.1_Missense_Mutation_p.D6470E|NEB_ENST00000397345.3_Missense_Mutation_p.D8326E|NEB_ENST00000604864.1_Missense_Mutation_p.D8326E			P20929	NEBU_HUMAN	nebulin	6470	Interaction with SVIL.				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)		GGTAGTTAATGTCACTGAAGT	0.433																																																	0													213	203	206					2																	152348691		1945	4143	6088	SO:0001583	missense	0			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.19410C>A	2.37:g.152348691G>T	ENSP00000172853:p.Asp6470Glu		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.D8326E	ENST00000172853.10	37	c.24978		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.198119|4.198119	0.79015|0.79015	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223|ENST00000397337;ENST00000434685	T;T;T;T;T;T;T|.	0.08896|.	3.18;3.28;3.28;3.04;3.18;3.56;3.73|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.139045|.	0.64402|.	D|.	0.000006|.	T|T	0.72558|0.72558	0.3475|0.3475	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999998|0.999998	B;D;P;P;D;P|.	0.76494|.	0.131;0.995;0.887;0.774;0.999;0.648|.	B;D;P;B;D;P|.	0.78314|.	0.171;0.967;0.463;0.41;0.991;0.709|.	T|T	0.72874|0.72874	-0.4160|-0.4160	10|5	0.45353|.	T|.	0.12|.	.|.	12.4624|12.4624	0.55738|0.55738	0.0815:0.0:0.9185:0.0|0.0815:0.0:0.9185:0.0	.|.	239;301;239;6470;2808;8326|.	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5|.	.;.;.;NEBU_HUMAN;.;.|.	E|K	6470;8326;8326;2426;2808;6470;301;239|460;567	ENSP00000386259:D6470E;ENSP00000380505:D8326E;ENSP00000416578:D8326E;ENSP00000410961:D2808E;ENSP00000172853:D6470E;ENSP00000380497:D301E;ENSP00000427083:D239E|.	ENSP00000172853:D6470E|.	D|T	-|-	3|2	2|0	NEB|NEB	152056937|152056937	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.406000|4.406000	0.59748|0.59748	2.570000|2.570000	0.86706|0.86706	0.563000|0.563000	0.77884|0.77884	GAC|ACA	NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.433	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0	92	0	G	NM_004543		152348691	-1			no_errors	ENST00000397345	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T	T	152348691	G	T	152348691	3	4	126	1	0	0	0	0	1	0	0	0	10341	1368	48	3	619	3	NEB	2	152348691	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	121989	152348691	90850682	48	32466											
TANK	10010	genome.wustl.edu	37	chr2	162091891	162091891	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctaatcaagacagtgactcGgtggtactaagtggcacaga	13	8	11	9	1	1	3	1	1	0	2	2	3	1	3	1	3	1	2	1	3	4	3	rs368794946		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:162091891G>T	ENST00000392749.2	+	8	1379	c.1140G>T	c.(1138-1140)tcG>tcT	p.S380S	TANK_ENST00000406287.1_3'UTR|TANK_ENST00000259075.2_Silent_p.S380S|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000402568.1_3'UTR|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.R406L	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	380					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)	p.S380S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						ACAGTGACTCGGTGGTACTAA	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											173	165	168					2																	162091891		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1140G>T	2.37:g.162091891G>T			D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	NULL	p.R406L	ENST00000392749.2	37	c.1217	CCDS2215.1	2	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303238	0.23736	.	.	ENSG00000136560	ENST00000405852	T	0.34072	1.38	5.63	4.49	0.54785	.	.	.	.	.	T	0.30916	0.0780	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10730	-1.0617	6	0.25106	T	0.35	-4.8203	4.3339	0.11076	0.6812:0.0:0.1711:0.1477	.	.	.	.	L	406	ENSP00000385487:R406L	ENSP00000385487:R406L	R	+	2	0	TANK	161800137	1.000000	0.71417	0.992000	0.48379	0.848000	0.48234	2.037000	0.41174	0.974000	0.38366	-0.469000	0.05056	CGG	TANK	-	NULL	ENSG00000136560		0.423	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	-	0	92	0	G	NM_133484		162091891	1	tier1	-	no_errors	ENST00000405852	ensembl	human	novel	74_37	missense	7.14	52	4	SNP	0.998	T	T	162091891	G	T	162091891	2	4	126	1	0	0	0	0	0	0	0	1	15593	1103	39	2		2	TANK	2	162091891	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	9743200	162091891	81107482	49	32467											
SCN2A	6326	genome.wustl.edu	37	chr2	166231377	166231377	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	gtggtcaacaactacagtgaGtgcaaagctctcattgagag	13	9	11	8	0	2	2	2	2	1	1	3	3	2	2	0	1	5	2	0	1	4	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:166231377G>C	ENST00000375437.2	+	22	4445	c.4155G>C	c.(4153-4155)gaG>gaC	p.E1385D	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1385D|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1385D|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1385D	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1385					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)	ACTACAGTGAGTGCAAAGCTC	0.398																																																	0													102	97	99					2																	166231377		2203	4299	6502	SO:0001583	missense	0			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.4155G>C	2.37:g.166231377G>C	ENSP00000364586:p.Glu1385Asp		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E1385D	ENST00000375437.2	37	c.4155	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.651194	0.00785	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.95885	-3.84;-3.83;-3.84;-3.83	4.41	-1.08	0.09936	Ion transport (1);	0.097532	0.44688	D	0.000426	D	0.83151	0.5192	N	0.11000	0.08	0.31260	N	0.693037	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.73799	-0.3869	10	0.02654	T	1	.	4.6996	0.12820	0.5387:0.0:0.3258:0.1354	.	1385;1385	Q99250-2;Q99250	.;SCN2A_HUMAN	D	1385	ENSP00000364586:E1385D;ENSP00000349973:E1385D;ENSP00000283256:E1385D;ENSP00000364576:E1385D	ENSP00000283256:E1385D	E	+	3	2	SCN2A	165939623	0.017000	0.18338	0.987000	0.45799	0.241000	0.25554	-0.787000	0.04618	-0.398000	0.07679	-0.373000	0.07131	GAG	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.398	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0	55	0	G	NM_021007		166231377	1	tier1	-	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	19.35	25	6	SNP	0.998	C	C	166231377	G	C	166231377	3	2	126	1	0	0	0	0	1	0	0	0	13961	1020	36	5	4333	5	SCN2A	2	166231377	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4139486	166231377	76967996	50	32468											
ITGA6	3655	genome.wustl.edu	37	chr2	173338951	173338951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagaaggtctggcctcttCatttggctatgatgtggcgg	6	13	15	7	1	3	2	1	1	2	1	3	3	3	2	1	6	0	1	1	6	2	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:173338951C>T	ENST00000264106.6	+	7	1264	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	ITGA6_ENST00000409532.1_Missense_Mutation_p.S196L|ITGA6_ENST00000343713.4_Missense_Mutation_p.S310L|ITGA6_ENST00000409080.1_Missense_Mutation_p.S315L|ITGA6_ENST00000375221.2_Missense_Mutation_p.S354L|ITGA6_ENST00000264107.7_Missense_Mutation_p.S315L			P23229	ITA6_HUMAN	integrin, alpha 6	354					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)			CTGGCCTCTTCATTTGGCTAT	0.478																																																	0													115	102	106					2																	173338951		2203	4300	6503	SO:0001583	missense	0				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.1061C>T	2.37:g.173338951C>T	ENSP00000264106:p.Ser354Leu		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S354L	ENST00000264106.6	37	c.1061		2	.	.	.	.	.	.	.	.	.	.	C	33	5.269003	0.95429	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.81654	0.4868	L	0.53617	1.68	0.80722	D	1	D;D;D	0.71674	0.991;0.998;0.998	D;D;D	0.74023	0.93;0.976;0.982	T	0.81326	-0.0983	10	0.48119	T	0.1	.	19.0937	0.93240	0.0:1.0:0.0:0.0	.	310;315;315	P23229-4;G5E9H1;P23229-2	.;.;.	L	201;196;315;354;354;310;315;354;310	ENSP00000413470:S201L;ENSP00000386614:S196L;ENSP00000264107:S315L;ENSP00000264106:S354L;ENSP00000364369:S354L;ENSP00000341078:S310L;ENSP00000386896:S315L;ENSP00000406694:S354L;ENSP00000394169:S310L	ENSP00000264106:S354L	S	+	2	0	ITGA6	173047197	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	4.969000	0.63735	2.505000	0.84491	0.655000	0.94253	TCA	ITGA6	-	smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000091409		0.478	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding		-	0	72	0	C			173338951	1	tier1	-	no_errors	ENST00000264106	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	T	T	173338951	C	T	173338951	3	4	126	1	0	0	0	0	1	0	0	0	7907	838	29	3	966	3	ITGA6	2	173338951	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	7107574	173338951	69860422	51	32469											
ITGAV	3685	genome.wustl.edu	37	chr2	187516791	187516791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaataaaacctgctcactgCctggaacagctctcaaagtt	14	9	6	12	0	2	0	2	0	1	0	3	1	2	1	2	1	5	3	2	1	5	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:187516791C>T	ENST00000261023.3	+	15	1754	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	ITGAV_ENST00000433736.2_Missense_Mutation_p.P448S|ITGAV_ENST00000374907.3_Missense_Mutation_p.P458S|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	494					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CTGCTCACTGCCTGGAACAGC	0.388																																					Melanoma(58;108 1995 6081)												0													70	72	71					2																	187516791		2203	4300	6503	SO:0001583	missense	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1480C>T	2.37:g.187516791C>T	ENSP00000261023:p.Pro494Ser		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.P494S	ENST00000261023.3	37	c.1480	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756559	0.49362	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.45276	0.9;0.9;0.9	5.32	4.39	0.52855	Integrin alpha-2 (1);	0.157234	0.64402	D	0.000020	T	0.36138	0.0956	L	0.45228	1.405	0.46874	D	0.999234	B;B;B	0.29552	0.248;0.036;0.248	B;B;B	0.30179	0.067;0.018;0.112	T	0.27640	-1.0068	10	0.52906	T	0.07	.	12.7965	0.57562	0.1642:0.8358:0.0:0.0	.	448;458;494	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	S	494;458;448	ENSP00000261023:P494S;ENSP00000364042:P458S;ENSP00000404291:P448S	ENSP00000261023:P494S	P	+	1	0	ITGAV	187225036	0.986000	0.35501	0.997000	0.53966	0.962000	0.63368	0.552000	0.23376	2.634000	0.89283	0.655000	0.94253	CCT	ITGAV	-	pfam_Integrin_alpha-2	ENSG00000138448		0.388	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	-	0	78	0	C	NM_002210		187516791	1	tier1	-	no_errors	ENST00000261023	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.997	T	T	187516791	C	T	187516791	3	4	126	1	0	0	0	0	1	0	0	0	7915	739	26	3	1589	3	ITGAV	2	187516791	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	14177840	187516791	55682582	52	32470											
ALS2	57679	genome.wustl.edu	37	chr2	202625891	202625891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcagtggaggggctgaGagcagtgctggcatggtttt	6	12	18	5	0	1	1	1	1	0	1	1	3	1	2	0	6	2	6	0	6	0	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:202625891G>T	ENST00000264276.6	-	4	1198	c.826C>A	c.(826-828)Ctc>Atc	p.L276I	ALS2_ENST00000467448.1_Missense_Mutation_p.L276I|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	276					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						GAGGGGCTGAGAGCAGTGCTG	0.453																																																	0													133	133	133					2																	202625891		2070	4207	6277	SO:0001583	missense	0			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.826C>A	2.37:g.202625891G>T	ENSP00000264276:p.Leu276Ile		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.L276I	ENST00000264276.6	37	c.826	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	G	6.487	0.458087	0.12342	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	T;T	0.55052	0.54;0.82	6.17	-2.17	0.07059	.	1.005780	0.07986	N	0.986370	T	0.23649	0.0572	N	0.08118	0	0.39717	D	0.971411	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	0.34800	-0.9814	10	0.15066	T	0.55	.	2.0439	0.03556	0.1096:0.1983:0.3237:0.3684	.	276;276;276;276	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	I	276	ENSP00000264276:L276I;ENSP00000429223:L276I	ENSP00000264276:L276I	L	-	1	0	ALS2	202334136	0.000000	0.05858	0.858000	0.33744	0.868000	0.49771	-0.426000	0.07008	-0.252000	0.09528	-0.262000	0.10625	CTC	ALS2	-	NULL	ENSG00000003393		0.453	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3		0	43	0	G	NM_020919		202625891	-1			no_errors	ENST00000264276	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.558	T	T	202625891	G	T	202625891	3	4	126	1	0	0	0	0	1	0	0	0	550	942	33	3	4349	3	ALS2	2	202625891	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	15109100	202625891	40573482	53	32471											
PLCD4	84812	genome.wustl.edu	37	chr2	219492940	219492940	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtggccagagcagcgtcGagggatatatacggtgcagt	9	10	15	7	3	0	1	0	0	0	1	1	3	0	2	1	3	4	2	1	3	3	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:219492940G>T	ENST00000450993.2	+	7	1300	c.961G>T	c.(961-963)Gag>Tag	p.E321*	PLCD4_ENST00000432688.1_Nonsense_Mutation_p.E321*|PLCD4_ENST00000417849.1_Nonsense_Mutation_p.E321*	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	321	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGCAGCGTCGAGGGATATAT	0.507																																																	0													133	127	129					2																	219492940		2034	4184	6218	SO:0001587	stop_gained	0			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.961G>T	2.37:g.219492940G>T	ENSP00000388631:p.Glu321*		Q53FS8	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E321*	ENST00000450993.2	37	c.961	CCDS46516.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.767657	0.98477	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.467	0.87635	0.0:0.0:1.0:0.0	.	.	.	.	X	321	.	ENSP00000251959:E321X	E	+	1	0	PLCD4	219201184	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.594000	0.98254	2.438000	0.82558	0.557000	0.71058	GAG	PLCD4	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C	ENSG00000115556		0.507	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	-	0	97	0	G			219492940	1	tier1	-	no_errors	ENST00000417849	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	1.000	T	T	219492940	G	T	219492940	4	4	126	1	0	0	0	0	0	1	0	0	12072	1059	37	2	983	2	PLCD4	2	219492940	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	16867049	219492940	23706433	54	32472											
ACCN4	55515	genome.wustl.edu	37	chr2	220396490	220396490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctcccaggtctatactcGctatgggaagtgttacacct	9	11	8	13	1	1	0	0	0	1	0	3	1	2	1	3	2	2	2	3	2	5	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:220396490G>T	ENST00000347842.3	+	2	988	c.974G>T	c.(973-975)cGc>cTc	p.R325L	ASIC4_ENST00000358078.4_Missense_Mutation_p.R325L|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	325					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)										GTCTATACTCGCTATGGGAAG	0.632																																																	0													62	65	64					2																	220396490		2203	4300	6503	SO:0001583	missense	0			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.974G>T	2.37:g.220396490G>T	ENSP00000326627:p.Arg325Leu		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.R325L	ENST00000347842.3	37	c.974	CCDS2442.1	2	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344069	0.61073	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.65364	-0.15;-0.15	3.16	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.83603	2.65	0.58432	D	0.999999	B;B;P	0.42584	0.034;0.388;0.784	B;B;B	0.40534	0.035;0.332;0.117	T	0.75836	-0.3177	10	0.56958	D	0.05	-1.1816	15.1743	0.72899	0.0:0.0:1.0:0.0	.	325;325;325	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	L	325	ENSP00000326627:R325L;ENSP00000350786:R325L	ENSP00000326627:R325L	R	+	2	0	ACCN4	220104734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.551000	0.98112	2.079000	0.62486	0.561000	0.74099	CGC	ASIC4	-	pfam_Na+channel_ASC	ENSG00000072182		0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	ASIC4	HGNC	protein_coding	OTTHUMT00000130263.1		0	68	0	G	NM_018674		220396490	1			no_errors	ENST00000347842	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	220396490	G	T	220396490	3	4	126	1	0	0	0	0	1	0	0	0	131	1087	38	2	980	2	ACCN4	2	220396490	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	903550	220396490	22802883	55	32473											
GIGYF2	26058	genome.wustl.edu	37	chr2	233697612	233697612	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaagaagaagaagcccagCgtcgattagaggagaaccgg	15	3	16	7	3	0	5	0	0	0	5	1	8	0	6	2	3	3	0	2	3	6	1	rs199672111		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr2:233697612C>A	ENST00000409547.1	+	24	2886	c.2575C>A	c.(2575-2577)Cgt>Agt	p.R859S	GIGYF2_ENST00000409196.3_Missense_Mutation_p.R853S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R880S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R881S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R859S|GIGYF2_ENST00000373566.3_Missense_Mutation_p.R881S|GIGYF2_ENST00000452341.2_Missense_Mutation_p.R690S	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	859	Gln-rich.|Glu-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)		AGAAGCCCAGCGTCGATTAGA	0.498																																																	0													17	19	18					2																	233697612		2178	4260	6438	SO:0001583	missense	0			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.2575C>A	2.37:g.233697612C>A	ENSP00000386537:p.Arg859Ser		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.R881S	ENST00000409547.1	37	c.2641	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639807	0.67244	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000452341	T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-0.95;-0.9;-0.88	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.85940	0.5814	M	0.61703	1.905	0.58432	D	0.999998	D;D;D;D	0.67145	0.996;0.993;0.993;0.993	D;D;D;D	0.79108	0.992;0.972;0.972;0.972	D	0.83404	0.0024	10	0.28530	T	0.3	-9.0969	18.0315	0.89286	0.0:1.0:0.0:0.0	.	690;880;859;853	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	S	881;859;881;859;853;880;690	ENSP00000362667:R881S;ENSP00000362664:R859S;ENSP00000386765:R881S;ENSP00000386537:R859S;ENSP00000387070:R853S;ENSP00000387170:R880S;ENSP00000411505:R690S	ENSP00000362664:R859S	R	+	1	0	GIGYF2	233405856	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.563000	0.53784	2.580000	0.87095	0.655000	0.94253	CGT	GIGYF2	-	NULL	ENSG00000204120		0.498	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	-	0	139	0	C	NM_001103146		233697612	1	tier1	-	no_errors	ENST00000373566	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	233697612	C	A	233697612	3	1	126	1	0	0	0	0	1	0	0	0	6404	768	27	2	2723	2	GIGYF2	2	233697612	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	13301122	233697612	9501761	56	32474											
IL5RA	3568	genome.wustl.edu	37	chr3	3139822	3139822	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaataggtacagtactaaccTatagtagagaaaatactgcg	18	9	8	6	1	0	1	0	0	0	1	0	2	0	1	1	1	5	3	1	1	11	8			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:3139822T>A	ENST00000446632.2	-	6	1094	c.520A>T	c.(520-522)Agg>Tgg	p.R174W	IL5RA_ENST00000311981.8_Splice_Site_p.R174W|IL5RA_ENST00000383846.1_Splice_Site_p.R174W|IL5RA_ENST00000418488.2_Splice_Site_p.R174W|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000430514.2_Splice_Site_p.R174W|IL5RA_ENST00000456302.1_Splice_Site_p.R174W|IL5RA_ENST00000438560.1_Splice_Site_p.R174W|IL5RA_ENST00000256452.3_Splice_Site_p.R174W	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	174					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)	p.R174G(1)		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)		AGTACTAACCTATAGTAGAGA	0.418																																					GBM(169;430 2801 24955 28528)												1	Substitution - Missense(1)	lung(1)											149	155	153					3																	3139822		2203	4300	6503	SO:0001630	splice_region_variant	0			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.521+1A>T	3.37:g.3139822T>A			B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.R174W	ENST00000446632.2	37	c.520	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	T	19.67	3.871484	0.72065	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	D;D;D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.91	5.91	0.95273	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	0.278888	0.36854	N	0.002365	D	0.89054	0.6606	L	0.41961	1.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.999	D	0.88822	0.3299	10	0.46703	T	0.11	-30.3775	13.7215	0.62730	0.0:0.0:0.0:1.0	.	174;174;174;174;174	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	W	174	ENSP00000412209:R174W;ENSP00000390753:R174W;ENSP00000256452:R174W;ENSP00000388858:R174W;ENSP00000373358:R174W;ENSP00000309196:R174W;ENSP00000400400:R174W;ENSP00000392059:R174W;ENSP00000398117:R174W	ENSP00000256452:R174W	R	-	1	2	IL5RA	3114822	1.000000	0.71417	0.910000	0.35882	0.717000	0.41224	4.960000	0.63673	2.254000	0.74563	0.533000	0.62120	AGG	IL5RA	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	ENSG00000091181		0.418	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2	-	0	116	0	T		Missense_Mutation	3139822	-1	tier1	-	no_errors	ENST00000256452	ensembl	human	known	74_37	missense	60.98	16	25	SNP	0.981	A	A	3139822	T	A	3139822	5	1	126	1	0	0	0	0	0	0	1	0	7727	1536	53	5	796	5	IL5RA	3	3139822	Splice_Site	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09		3139822	194882608	57	32475											
GRIP2	80852	genome.wustl.edu	37	chr3	14567437	14567437	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggagtagggcccatcGtctgcaggagagaaagaggg	10	7	16	8	1	1	2	0	0	1	2	2	5	1	4	2	4	1	2	2	4	2	2	rs369716360		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:14567437G>A	ENST00000273083.3	-	0	107							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGGGCCCATCGTCTGCAGGAG	0.567																																																	0								G		1,3841		0,1,1920	23	26	25		333	1.9	1	3		25	0,8188		0,0,4094	no	coding-synonymous-near-splice	GRIP2	NM_001080423.2		0,1,6014	AA,AG,GG		0.0,0.026,0.0083		111/1141	14567437	1,12029	1921	4094	6015			0			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14567437G>A			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-	ENSG00000144596		0.567	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	-	0	34	0	G	NM_001080423		14567437	-1	tier1	-	no_errors	ENST00000273083	ensembl	human	known	74_37	rna	42.86	8	6	SNP	1.000	A	A	14567437	G	A	14567437	1	1	126	0	1	0	0	0	0	0	0	0	6815	1159	40	1		1	GRIP2	3	14567437	RNA	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	11427615	14567437	183454993	58	32476											
SCN10A	6336	genome.wustl.edu	37	chr3	38805007	38805007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctcacctgggatcacaGaaactgtttttaatgctcta	12	13	7	9	0	3	1	2	0	1	1	3	2	3	2	1	1	3	3	1	1	4	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:38805007G>T	ENST00000449082.2	-	5	679	c.680C>A	c.(679-681)tCt>tAt	p.S227Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	227					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.S227Y(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)	TGGGATCACAGAAACTGTTTT	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)											162	159	160					3																	38805007		2203	4300	6503	SO:0001583	missense	0			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.680C>A	3.37:g.38805007G>T	ENSP00000390600:p.Ser227Tyr		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.S227Y	ENST00000449082.2	37	c.680	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691059	0.68271	.	.	ENSG00000185313	ENST00000449082	D	0.98807	-5.15	4.42	3.53	0.40419	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	H	0.97491	4.015	0.48040	D	0.999574	D	0.89917	1.0	D	0.91635	0.999	D	0.98383	1.0559	10	0.87932	D	0	.	14.6754	0.68975	0.0:0.1463:0.8537:0.0	.	227	Q9Y5Y9	SCNAA_HUMAN	Y	227	ENSP00000390600:S227Y	ENSP00000390600:S227Y	S	-	2	0	SCN10A	38780011	1.000000	0.71417	0.944000	0.38274	0.881000	0.50899	9.477000	0.97925	1.176000	0.42840	-0.312000	0.09012	TCT	SCN10A	-	pfam_Ion_trans_dom	ENSG00000185313		0.443	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3		0	82	0	G	NM_006514		38805007	-1			no_errors	ENST00000449082	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	38805007	G	T	38805007	3	4	126	1	0	0	0	0	1	0	0	0	13957	942	33	3	5282	3	SCN10A	3	38805007	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	24237570	38805007	159217423	59	32477											
CTNNB1	1499	genome.wustl.edu	37	chr3	41266472	41266472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacagtatgcaatgactcGagctcagagggtacgagctg	11	8	14	8	2	1	2	1	1	0	1	2	5	1	3	0	2	4	5	0	2	3	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:41266472G>T	ENST00000349496.5	+	4	549	c.269G>T	c.(268-270)cGa>cTa	p.R90L	CTNNB1_ENST00000453024.1_Missense_Mutation_p.R83L|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R90L|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R90L|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R90L	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	90					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)	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(3)|p.T3_A126del(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.A20_S111del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.E15_I140>V(1)|p.V22_T102del(1)|p.H24_M131del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P16_K133del(1)	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)		GCAATGACTCGAGCTCAGAGG	0.433		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"	37	Deletion - In frame(28)|Complex - deletion inframe(7)|Unknown(2)	liver(30)|stomach(5)|adrenal_gland(1)|skin(1)											191	169	176					3																	41266472		2203	4300	6503	SO:0001583	missense	0	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.269G>T	3.37:g.41266472G>T	ENSP00000344456:p.Arg90Leu		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.R90L	ENST00000349496.5	37	c.269	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866669	0.91511	.	.	ENSG00000168036	ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.965	T	0.80837	-0.1204	10	0.87932	D	0	-4.3016	19.8405	0.96681	0.0:0.0:1.0:0.0	.	18;90	B4DSW9;P35222	.;CTNB1_HUMAN	L	90;90;90;90;83;90;90;90	ENSP00000385604:R90L;ENSP00000412219:R90L;ENSP00000379486:R90L;ENSP00000344456:R90L;ENSP00000411226:R83L;ENSP00000379488:R90L;ENSP00000409302:R90L;ENSP00000401599:R90L	ENSP00000344456:R90L	R	+	2	0	CTNNB1	41241476	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	CGA	CTNNB1	-	prints_Beta-catenin	ENSG00000168036		0.433	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	-	0	51	0	G	NM_001098210		41266472	1	tier1	-	no_errors	ENST00000349496	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	T	T	41266472	G	T	41266472	3	4	126	1	0	0	0	0	1	0	0	0	4025	1058	37	2	279	2	CTNNB1	3	41266472	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2461465	41266472	156755958	60	32478											
APEH	327	genome.wustl.edu	37	chr3	49713493	49713493	+	Frame_Shift_Del	DEL	C	C	-																															ccctccctgcacccagactgCtttggctgcctgtcctggtc																										TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:49713493delC	ENST00000296456.5	+	6	847	c.447delC	c.(445-447)tgcfs	p.C149fs	APEH_ENST00000438011.1_Frame_Shift_Del_p.C149fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	149					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)		ACCCAGACTGCTTTGGCTGCC	0.622																																																	0													67	74	72					3																	49713493		2203	4300	6503	SO:0001589	frameshift_variant	0			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.447delC	3.37:g.49713493delC	ENSP00000296456:p.Cys149fs		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro	p.F150fs	ENST00000296456.5	37	c.447	CCDS2801.1	3																																																																																			APEH	-	NULL	ENSG00000164062		0.622	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEH	HGNC	protein_coding	OTTHUMT00000346415.2		0	116	0	C			49713493	1	tier1		no_errors	ENST00000296456	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	1.000	-	-	49713493	C	-	49713493	7	5	126	1	0	1	0	1	0	0	0	0	768	805	28	0	469	0	APEH	3	49713493	Frame_Shift_Del	DEL	C	TCGA-LN-A7HX-01A-11D-A33E-09	8447021	49713493	148308937	61	32479											
CACNA2D2	9254	genome.wustl.edu	37	chr3	50431572	50431572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagcggtgtgctttctGgaagttctctgcagcatcag	6	12	12	11	1	3	0	1	0	2	0	4	1	3	1	1	2	5	4	1	2	1	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:50431572G>T	ENST00000479441.1	-	4	432	c.433C>A	c.(433-435)Cag>Aag	p.Q145K	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.Q145K|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.Q145K|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.Q145K|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.Q145K|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.Q76K|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.Q145K|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.Q145K			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	145					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)	TGTGCTTTCTGGAAGTTCTCT	0.597																																																	0													171	149	157					3																	50431572		2203	4300	6503	SO:0001583	missense	0			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.433C>A	3.37:g.50431572G>T	ENSP00000418081:p.Gln145Lys		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.Q145K	ENST00000479441.1	37	c.433	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397219	0.83120	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.05649	3.42;3.41;3.41;3.42;3.42;3.41;3.41;3.41	4.32	4.32	0.51571	VWA N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.20941	0.0504	M	0.66939	2.045	0.41254	D	0.98673	D;D	0.67145	0.996;0.995	D;D	0.66196	0.932;0.942	T	0.01235	-1.1410	10	0.36615	T	0.2	-14.9789	15.9954	0.80234	0.0:0.0:1.0:0.0	.	145;145	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	K	145;145;145;76;145;145;145;145	ENSP00000407393:Q145K;ENSP00000404631:Q145K;ENSP00000266039:Q145K;ENSP00000354228:Q76K;ENSP00000390526:Q145K;ENSP00000378519:Q145K;ENSP00000390329:Q145K;ENSP00000418081:Q145K	ENSP00000266039:Q145K	Q	-	1	0	CACNA2D2	50406576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.124000	0.77185	2.233000	0.73108	0.491000	0.48974	CAG	CACNA2D2	-	pfam_VWA_N	ENSG00000007402		0.597	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	-	0	74	0	G	NM_006030		50431572	-1	tier1	-	no_errors	ENST00000435965	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	T	T	50431572	G	T	50431572	3	4	126	1	0	0	0	0	1	0	0	0	2556	1357	47	3	3169	3	CACNA2D2	3	50431572	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	718079	50431572	147590858	62	32480											
ABHD6	57406	genome.wustl.edu	37	chr3	58256768	58256768	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctacccatcggatgtctccaGcctgtgtctcgtgtgtcctg	4	13	10	14	2	2	0	0	0	2	0	6	1	3	1	4	1	2	0	4	1	1	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:58256768G>T	ENST00000478253.1	+	6	1001	c.500G>T	c.(499-501)aGc>aTc	p.S167I	ABHD6_ENST00000295962.4_Missense_Mutation_p.S167I			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	167					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)		GATGTCTCCAGCCTGTGTCTC	0.527																																																	0													162	117	132					3																	58256768		2203	4300	6503	SO:0001583	missense	0			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.500G>T	3.37:g.58256768G>T	ENSP00000420315:p.Ser167Ile		B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.S167I	ENST00000478253.1	37	c.500	CCDS2887.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214310	0.79352	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	6.17	6.17	0.99709	Alpha/beta hydrolase fold-1 (1);	0.036407	0.85682	D	0.000000	T	0.75027	0.3794	M	0.84846	2.72	0.51482	D	0.999923	P;P	0.50443	0.889;0.935	B;B	0.43575	0.412;0.424	T	0.77816	-0.2447	10	0.48119	T	0.1	-6.4187	20.4898	0.99202	0.0:0.0:1.0:0.0	.	167;167	Q9BV23;F5H7L1	ABHD6_HUMAN;.	I	167	ENSP00000420315:S167I;ENSP00000295962:S167I;ENSP00000420408:S167I;ENSP00000418934:S167I	ENSP00000295962:S167I	S	+	2	0	ABHD6	58231808	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	9.315000	0.96313	2.941000	0.99782	0.655000	0.94253	AGC	ABHD6	-	pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	ENSG00000163686		0.527	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD6	HGNC	protein_coding	OTTHUMT00000353511.1	-	0	84	0	G	NM_020676		58256768	1	tier1	-	no_errors	ENST00000295962	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	58256768	G	T	58256768	3	4	126	1	0	0	0	0	1	0	0	0	86	971	34	3	514	3	ABHD6	3	58256768	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	7825196	58256768	139765662	63	32481											
ZPLD1	131368	genome.wustl.edu	37	chr3	102187857	102187857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagaatggccgaagccagCggggccggttttcttttgaa	8	11	14	8	3	1	2	0	2	1	1	1	4	1	2	3	4	2	1	3	4	3	5	rs147459423		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:102187857C>T	ENST00000491959.1	+	15	1693	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	ZPLD1_ENST00000306176.1_Missense_Mutation_p.R287W|ZPLD1_ENST00000466937.1_Missense_Mutation_p.R271W			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	271	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.R287W(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CCGAAGCCAGCGGGGCCGGTT	0.473																																																	1	Substitution - Missense(1)	large_intestine(1)											74	75	75					3																	102187857		2203	4300	6503	SO:0001583	missense	0			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.811C>T	3.37:g.102187857C>T	ENSP00000420265:p.Arg271Trp		Q49AS1|Q8WU36	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	p.R287W	ENST00000491959.1	37	c.859		3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040659	0.75732	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.82893	-1.66;-1.66;-1.66	5.47	4.59	0.56863	Zona pellucida sperm-binding protein (3);	0.401538	0.28828	N	0.014011	T	0.78824	0.4344	L	0.38175	1.15	0.31381	N	0.679055	P;D	0.53619	0.924;0.961	B;P	0.49301	0.34;0.606	T	0.79427	-0.1808	10	0.49607	T	0.09	-11.9781	7.7632	0.28965	0.2651:0.6531:0.0:0.0818	.	287;271	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	W	271;287;271	ENSP00000420265:R271W;ENSP00000307801:R287W;ENSP00000418253:R271W	ENSP00000307801:R287W	R	+	1	2	ZPLD1	103670547	1.000000	0.71417	0.863000	0.33907	0.961000	0.63080	4.658000	0.61497	1.313000	0.45069	0.462000	0.41574	CGG	ZPLD1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000170044		0.473	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	HGNC	protein_coding	OTTHUMT00000353984.1		0	73	0	C	NM_175056		102187857	1			no_errors	ENST00000306176	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	102187857	C	T	102187857	3	4	126	1	0	0	0	0	1	0	0	0	18269	759	27	1	889	1	ZPLD1	3	102187857	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	43931089	102187857	95834573	64	32482											
MYH15	22989	genome.wustl.edu	37	chr3	108189003	108189003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacatgtgccaattgaaGaattgttgtaatttttcatt	14	16	6	5	0	1	2	1	1	0	1	1	2	1	2	1	0	2	2	1	0	5	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:108189003G>T	ENST00000273353.3	-	15	1556	c.1500C>A	c.(1498-1500)ttC>ttA	p.F500L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	500	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						GCCAATTGAAGAATTGTTGTA	0.328																																																	0													103	94	97					3																	108189003		1810	4088	5898	SO:0001583	missense	0			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.1500C>A	3.37:g.108189003G>T	ENSP00000273353:p.Phe500Leu			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.F500L	ENST00000273353.3	37	c.1500	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	8.306	0.821062	0.16678	.	.	ENSG00000144821	ENST00000273353	T	0.71461	-0.57	6.16	0.173	0.15036	Myosin head, motor domain (2);	.	.	.	.	T	0.58680	0.2139	L	0.52011	1.625	0.42581	D	0.993215	B	0.19200	0.034	B	0.28139	0.086	T	0.52953	-0.8506	9	0.72032	D	0.01	.	0.6353	0.00801	0.3562:0.1201:0.2786:0.245	.	500	Q9Y2K3	MYH15_HUMAN	L	500	ENSP00000273353:F500L	ENSP00000273353:F500L	F	-	3	2	MYH15	109671693	1.000000	0.71417	0.050000	0.19076	0.069000	0.16628	0.817000	0.27281	-0.250000	0.09555	-0.142000	0.14014	TTC	MYH15	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000144821		0.328	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	-	0	107	0	G	XM_036988		108189003	-1	tier1	-	no_errors	ENST00000273353	ensembl	human	known	74_37	missense	7.84	46	4	SNP	0.967	T	T	108189003	G	T	108189003	3	4	126	1	0	0	0	0	1	0	0	0	10072	933	33	3	4452	3	MYH15	3	108189003	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	6001146	108189003	89833427	65	32483											
DPPA2	151871	genome.wustl.edu	37	chr3	109027896	109027896	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ccgttgttcagggtaagcatGcctatgaagcctcagataaa	12	10	10	9	1	2	2	2	1	0	1	2	2	2	2	3	1	3	4	3	1	5	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:109027896G>A	ENST00000478945.1	-	5	619	c.373C>T	c.(373-375)Cat>Tat	p.H125Y		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	125	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTAAGCATGCCTATGAAGC	0.433																																																	0													181	161	168					3																	109027896		2203	4300	6503	SO:0001583	missense	0			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.373C>T	3.37:g.109027896G>A	ENSP00000417710:p.His125Tyr		Q8WVF0	Missense_Mutation	SNP	pfscan_SAP_dom	p.H125Y	ENST00000478945.1	37	c.373	CCDS2956.1	3	.	.	.	.	.	.	.	.	.	.	G	2.168	-0.390657	0.04932	.	.	ENSG00000163530	ENST00000478945	T	0.72051	-0.62	3.89	3.01	0.34805	DNA-binding SAP (2);	0.490245	0.18970	N	0.126153	T	0.52141	0.1716	L	0.31804	0.96	0.09310	N	1	B	0.25521	0.128	B	0.26969	0.075	T	0.30707	-0.9969	10	0.11485	T	0.65	-7.1849	7.4214	0.27073	0.1172:0.0:0.8828:0.0	.	125	Q7Z7J5	DPPA2_HUMAN	Y	125	ENSP00000417710:H125Y	ENSP00000417710:H125Y	H	-	1	0	DPPA2	110510586	0.000000	0.05858	0.122000	0.21767	0.040000	0.13550	0.159000	0.16442	1.222000	0.43521	0.462000	0.41574	CAT	DPPA2	-	pfscan_SAP_dom	ENSG00000163530		0.433	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA2	HGNC	protein_coding	OTTHUMT00000353938.1	-	0	74	0	G	NM_138815		109027896	-1	tier1	-	no_errors	ENST00000478945	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.141	A	A	109027896	G	A	109027896	3	1	126	1	0	0	0	0	1	0	0	0	4748	1319	46	3	539	3	DPPA2	3	109027896	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	838893	109027896	88994534	66	32484											
PVRL3	25945	genome.wustl.edu	37	chr3	110831057	110831057	+	Missense_Mutation	SNP	A	A	G	1	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	ccaatatggattctctgttcAaggagaatatcagggaagag	14	10	11	6	0	3	2	2	0	1	2	4	5	3	4	1	3	0	1	1	3	6	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:110831057A>G	ENST00000485303.1	+	2	616	c.341A>G	c.(340-342)cAa>cGa	p.Q114R	PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000493615.1_Missense_Mutation_p.Q91R|PVRL3_ENST00000319792.3_Missense_Mutation_p.Q114R	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	114	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TTCTCTGTTCAAGGAGAATAT	0.363																																																	0													106	101	103					3																	110831057		2203	4300	6503	SO:0001583	missense	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.341A>G	3.37:g.110831057A>G	ENSP00000418070:p.Gln114Arg		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.Q114R	ENST00000485303.1	37	c.341	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	A	18.36	3.607139	0.66558	.	.	ENSG00000177707	ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.84	5.84	0.93424	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.369914	0.31577	N	0.007418	T	0.57989	0.2091	L	0.27053	0.805	0.28291	N	0.923546	D;P	0.61697	0.99;0.912	P;B	0.53593	0.73;0.41	T	0.52185	-0.8609	10	0.11794	T	0.64	.	14.1823	0.65583	1.0:0.0:0.0:0.0	.	91;114	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	R	67;114;114;91;99	ENSP00000418327:Q67R;ENSP00000418070:Q114R;ENSP00000321514:Q114R;ENSP00000420579:Q91R;ENSP00000420479:Q99R	ENSP00000321514:Q114R	Q	+	2	0	PVRL3	112313747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.822000	0.69265	2.228000	0.72767	0.533000	0.62120	CAA	PVRL3	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000177707		0.363	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	-	0	89	0	A	NM_015480		110831057	1	tier1	-	no_errors	ENST00000485303	ensembl	human	known	74_37	missense	27.03	27	10	SNP	1.000	G	G	110831057	A	G	110831057	3	3	126	1	0	0	0	0	1	0	0	0	12886	130	5	4	347	4	PVRL3	3	110831057	Missense_Mutation	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	1803161	110831057	87191373	67	32485											
PVRL3	25945	genome.wustl.edu	37	chr3	110852913	110852913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaacaatgtagaaaatCtcaataggtttgaaagacca	18	9	9	5	0	1	3	1	1	1	2	2	4	1	4	1	2	1	2	1	2	8	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:110852913C>A	ENST00000485303.1	+	6	1776	c.1501C>A	c.(1501-1503)Ctc>Atc	p.L501I	PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	501					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGTAGAAAATCTCAATAGGTT	0.308																																																	0													41	44	43					3																	110852913		2201	4298	6499	SO:0001583	missense	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1501C>A	3.37:g.110852913C>A	ENSP00000418070:p.Leu501Ile		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.L501I	ENST00000485303.1	37	c.1501	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	C	7.440	0.640585	0.14386	.	.	ENSG00000177707	ENST00000485303	T	0.14640	2.49	5.8	4.89	0.63831	.	0.366370	0.29002	N	0.013443	T	0.09555	0.0235	L	0.43152	1.355	0.80722	D	1	B	0.31077	0.307	B	0.24155	0.051	T	0.13072	-1.0523	10	0.14252	T	0.57	.	7.6988	0.28611	0.1631:0.7546:0.0:0.0823	.	501	Q9NQS3	PVRL3_HUMAN	I	501	ENSP00000418070:L501I	ENSP00000418070:L501I	L	+	1	0	PVRL3	112335603	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.472000	0.35376	2.734000	0.93682	0.460000	0.39030	CTC	PVRL3	-	NULL	ENSG00000177707		0.308	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	-	0	49	0	C	NM_015480		110852913	1	tier1	-	no_errors	ENST00000485303	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	A	A	110852913	C	A	110852913	3	1	126	1	0	0	0	0	1	0	0	0	12886	913	32	3	1523	3	PVRL3	3	110852913	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	21856	110852913	87169517	68	32486											
PHLDB2	90102	genome.wustl.edu	37	chr3	111603841	111603841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caattaccttaatttttcttCtttgagctcaggggctttac	8	18	6	9	0	3	1	1	1	2	0	3	1	3	1	1	2	3	2	1	2	4	8			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:111603841C>T	ENST00000431670.2	+	2	1328	c.917C>T	c.(916-918)tCt>tTt	p.S306F	PHLDB2_ENST00000412622.1_Missense_Mutation_p.S306F|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S333F|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S306F|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S306F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S306F|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S306F	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	306						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATTTTTCTTCTTTGAGCTCA	0.448																																																	0													70	74	73					3																	111603841		2203	4300	6503	SO:0001583	missense	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.917C>T	3.37:g.111603841C>T	ENSP00000405405:p.Ser306Phe		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S306F	ENST00000431670.2	37	c.917	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936105	0.73442	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.47177	0.91;0.95;0.93;0.85;0.95;0.93	5.61	5.61	0.85477	.	0.057876	0.64402	D	0.000001	T	0.67933	0.2946	M	0.68593	2.085	0.44660	D	0.997645	D;D;D;D;D	0.89917	0.996;1.0;1.0;0.998;0.998	P;D;D;D;P	0.91635	0.804;0.999;0.999;0.935;0.904	T	0.69098	-0.5235	10	0.72032	D	0.01	.	16.9138	0.86146	0.0:1.0:0.0:0.0	.	306;306;306;306;333	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	F	333;333;306;306;306;306;306;306;306	ENSP00000377500:S333F;ENSP00000405405:S306F;ENSP00000405292:S306F;ENSP00000418296:S306F;ENSP00000377502:S306F;ENSP00000418319:S306F	ENSP00000352764:S333F	S	+	2	0	PHLDB2	113086531	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.068000	0.64364	2.813000	0.96785	0.655000	0.94253	TCT	PHLDB2	-	NULL	ENSG00000144824		0.448	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1		0	51	0	C	NM_145753		111603841	1			no_errors	ENST00000393925	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.998	T	T	111603841	C	T	111603841	3	4	126	1	0	0	0	0	1	0	0	0	11891	913	32	3	1004	3	PHLDB2	3	111603841	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	750928	111603841	86418589	69	32487											
TMEM39A	55254	genome.wustl.edu	37	chr3	119156840	119156840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccaagcctcccacagtcGaggcactttcctctactgcc	7	9	8	17	1	1	0	0	0	1	0	4	1	3	0	5	2	3	1	5	2	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:119156840G>A	ENST00000319172.5	-	6	1106	c.686C>T	c.(685-687)tCg>tTg	p.S229L	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	229						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TCCCACAGTCGAGGCACTTTC	0.463																																																	0													72	68	70					3																	119156840		2203	4300	6503	SO:0001583	missense	0			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.686C>T	3.37:g.119156840G>A	ENSP00000326063:p.Ser229Leu		D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	pfam_Uncharacterised_TMEM39	p.S229L	ENST00000319172.5	37	c.686	CCDS2987.1	3	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120308	0.37436	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	T	0.46063	0.88	5.65	4.72	0.59763	.	0.229185	0.30920	N	0.008620	T	0.23926	0.0579	N	0.08118	0	0.37818	D	0.928286	B	0.06786	0.001	B	0.04013	0.001	T	0.09840	-1.0656	10	0.41790	T	0.15	-8.2176	12.5312	0.56115	0.0:0.0:0.7141:0.2859	.	229	Q9NV64	TM39A_HUMAN	L	229;75	ENSP00000326063:S229L	ENSP00000326063:S229L	S	-	2	0	TMEM39A	120639530	0.998000	0.40836	0.992000	0.48379	0.963000	0.63663	3.182000	0.50910	2.665000	0.90641	0.650000	0.86243	TCG	TMEM39A	-	pfam_Uncharacterised_TMEM39	ENSG00000176142		0.463	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39A	HGNC	protein_coding	OTTHUMT00000354941.3		0	29	0	G	NM_018266		119156840	-1			no_errors	ENST00000319172	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.956	A	A	119156840	G	A	119156840	3	1	126	1	0	0	0	0	1	0	0	0	16208	1059	37	1	796	1	TMEM39A	3	119156840	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	7552999	119156840	78865590	70	32488											
POPDC2	64091	genome.wustl.edu	37	chr3	119367470	119367470	+	Frame_Shift_Del	DEL	G	G	-																															aagaagatggagacttttccGgggccaggaaatgtagctac																										TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:119367470delG	ENST00000264231.3	-	3	812	c.646delC	c.(646-648)cggfs	p.R216fs	POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Frame_Shift_Del_p.R216fs|POPDC2_ENST00000538678.1_Frame_Shift_Del_p.R216fs|POPDC2_ENST00000493094.1_Frame_Shift_Del_p.R216fs	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	216					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGACTTTTCCGGGGCCAGGAA	0.468																																																	0													43	47	45					3																	119367470		2203	4300	6503	SO:0001589	frameshift_variant	0			AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.646delC	3.37:g.119367470delG	ENSP00000264231:p.Arg216fs		Q86UE7	Frame_Shift_Del	DEL	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.R216fs	ENST00000264231.3	37	c.646	CCDS2992.1	3																																																																																			POPDC2	-	pfam_Popeye_prot,superfamily_cNMP-bd-like	ENSG00000121577		0.468	POPDC2-002	KNOWN	basic|CCDS	protein_coding	POPDC2	HGNC	protein_coding	OTTHUMT00000355378.1		0	47	0	G	NM_022135		119367470	-1	tier1		no_errors	ENST00000341124	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-	-	119367470	G	-	119367470	7	5	126	1	0	1	0	1	0	0	0	0	12294	1115	39	0	456	0	POPDC2	3	119367470	Frame_Shift_Del	DEL	G	TCGA-LN-A7HX-01A-11D-A33E-09	210630	119367470	78654960	71	32489											
SLC12A8	84561	genome.wustl.edu	37	chr3	124826791	124826791	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcaccggctcaggcaccggGgtcaggctgcaggaacacat	10	4	14	13	2	2	0	2	0	0	0	2	1	2	1	2	6	3	5	2	6	1	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:124826791G>T	ENST00000393469.4	-	9	1288	c.1239C>A	c.(1237-1239)acC>acA	p.T413T	SLC12A8_ENST00000430155.2_Silent_p.T214T|SLC12A8_ENST00000423114.2_Silent_p.T442T|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Silent_p.T413T|SLC12A8_ENST00000314584.7_Silent_p.T166T	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	413					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						CAGGCACCGGGGTCAGGCTGC	0.582																																																	0													36	38	38					3																	124826791		2074	4219	6293	SO:0001819	synonymous_variant	0				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1239C>A	3.37:g.124826791G>T			C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	pfam_AA-permease/SLC12A_dom,superfamily_ABC1_TM_dom	p.T442	ENST00000393469.4	37	c.1326	CCDS43143.1	3																																																																																			SLC12A8	-	NULL	ENSG00000221955		0.582	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A8	HGNC	protein_coding	OTTHUMT00000355711.4	-	0	75	0	G	NM_024628		124826791	-1	tier1	-	no_errors	ENST00000423114	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.007	T	T	124826791	G	T	124826791	2	4	126	1	0	0	0	0	0	0	0	1	14434	1219	43	3		3	SLC12A8	3	124826791	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	5459321	124826791	73195639	72	32490											
SLC41A3	54946	genome.wustl.edu	37	chr3	125775273	125775273	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaatgggcaccacgacctgGcacatgatggtgaagaaaga	15	5	13	8	1	0	5	0	2	0	3	0	6	0	5	2	3	0	2	2	3	3	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:125775273G>T	ENST00000315891.6	-	3	512				SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000346785.5_Intron|SLC41A3_ENST00000514023.1_Intron|SLC41A3_ENST00000383598.2_Nonsense_Mutation_p.C41*|SLC41A3_ENST00000360370.4_Intron|RP11-158I23.1_ENST00000508263.1_RNA	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3							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)		CCACGACCTGGCACATGATGG	0.557																																																	0													121	100	107					3																	125775273		2203	4300	6503	SO:0001627	intron_variant	0				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.274-5380C>A	3.37:g.125775273G>T			A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Nonsense_Mutation	SNP	pfam_SLC41_membr_dom	p.C41*	ENST00000315891.6	37	c.123	CCDS33843.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.152507	0.94645	.	.	ENSG00000114544	ENST00000383598;ENST00000513723	.	.	.	5.2	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	8.9195	0.35604	0.1829:0.0:0.8171:0.0	.	.	.	.	X	41;119	.	ENSP00000373092:C41X	C	-	3	2	SLC41A3	127257963	0.979000	0.34478	0.876000	0.34364	0.230000	0.25150	0.813000	0.27225	1.176000	0.42840	0.585000	0.79938	TGC	SLC41A3	-	NULL	ENSG00000114544		0.557	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	HGNC	protein_coding	OTTHUMT00000370886.1	-	0	63	0	G	NM_017836		125775273	-1	tier1	-	no_errors	ENST00000383598	ensembl	human	known	74_37	nonsense	12.12	29	4	SNP	0.888	T	T	125775273	G	T	125775273	1	4	126	0	1	0	0	0	0	0	0	0	14676	1195	42	3		3	SLC41A3	3	125775273	Intron	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	948482	125775273	72247157	73	32491											
CHCHD6	84303	genome.wustl.edu	37	chr3	126633522	126633522	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgtttttctccttgtaGaatgctgagatgtataaact	10	18	7	6	0	2	2	0	1	2	2	3	3	2	2	1	0	2	4	1	0	5	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:126633522G>T	ENST00000290913.3	+	6	588		c.e6-1		CHCHD6_ENST00000508789.1_Splice_Site|CHCHD6_ENST00000515867.1_Splice_Site	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6						cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(3)|lung(3)	8						TCTCCTTGTAGAATGCTGAGA	0.358																																																	0													103	113	110					3																	126633522		2203	4300	6503	SO:0001630	splice_region_variant	0			BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28184	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 23", "coiled-coil-helix cristae morphology 1"	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.496-1G>T	3.37:g.126633522G>T			D6R9U0|D6RIB4|H8Y0Y7	Splice_Site	SNP	-	e6-1	ENST00000290913.3	37	c.496-1	CCDS3041.1	3	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849052	0.32699	.	.	ENSG00000159685	ENST00000290913;ENST00000508789;ENST00000513253	.	.	.	4.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.556	0.68101	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHCHD6	128116212	1.000000	0.71417	0.928000	0.36995	0.340000	0.28889	5.880000	0.69698	2.190000	0.69967	0.563000	0.77884	.	CHCHD6	-	-	ENSG00000159685		0.358	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD6	HGNC	protein_coding	OTTHUMT00000356432.1		0	60	0	G	NM_032343	Intron	126633522	1			no_errors	ENST00000290913	ensembl	human	known	74_37	splice_site	6.38	44	3	SNP	1.000	T	T	126633522	G	T	126633522	5	4	126	1	0	0	0	0	0	0	1	0	3327	956	33	3	517	3	CHCHD6	3	126633522	Splice_Site	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	858249	126633522	71388908	74	32492											
COL6A5	256076	genome.wustl.edu	37	chr3	130124990	130124990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggaggtcatggagacGatgggattgatggacttgat	10	10	16	5	1	2	3	2	2	0	1	2	8	2	6	0	5	0	0	0	5	0	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:130124990G>T	ENST00000432398.2	+	16	4890	c.4396G>T	c.(4396-4398)Gat>Tat	p.D1466Y	COL6A5_ENST00000265379.6_Missense_Mutation_p.D1466Y	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1466	Triple-helical region.				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						TCATGGAGACGATGGGATTGA	0.403																																																	0													155	124	134					3																	130124990		692	1591	2283	SO:0001583	missense	0			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.4396G>T	3.37:g.130124990G>T	ENSP00000390895:p.Asp1466Tyr		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D1466Y	ENST00000432398.2	37	c.4396		3	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503341	0.26949	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.93547	-3.24;-3.24	5.86	-5.14	0.02875	.	.	.	.	.	D	0.89777	0.6813	M	0.72624	2.21	0.09310	N	1	B	0.33477	0.413	B	0.36608	0.229	T	0.81247	-0.1019	9	0.51188	T	0.08	.	3.3012	0.06984	0.2626:0.3338:0.3113:0.0922	.	1466	A8TX70-2	.	Y	1466	ENSP00000390895:D1466Y;ENSP00000265379:D1466Y	ENSP00000265379:D1466Y	D	+	1	0	COL6A5	131607680	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.191000	0.09601	-0.757000	0.04697	-0.181000	0.13052	GAT	COL6A5	-	pfam_Collagen	ENSG00000172752		0.403	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	136	0	G	NM_153264		130124990	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.000	T	T	130124990	G	T	130124990	3	4	126	1	0	0	0	0	1	0	0	0	3709	1058	37	2	4454	2	COL6A5	3	130124990	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	3491468	130124990	67897440	75	32493											
ESYT3	83850	genome.wustl.edu	37	chr3	138191476	138191476	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agagcctaaaggcaaggacaGtgccaaaaggttctgtgagc	14	6	13	8	0	1	2	0	1	1	1	1	3	1	3	2	3	3	2	2	3	5	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:138191476G>T	ENST00000389567.4	+	18	2198	c.2012G>T	c.(2011-2013)aGt>aTt	p.S671I		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	671					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGCAAGGACAGTGCCAAAAGG	0.582																																																	0													118	138	132					3																	138191476		2123	4229	6352	SO:0001583	missense	0			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2012G>T	3.37:g.138191476G>T	ENSP00000374218:p.Ser671Ile		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.S671I	ENST00000389567.4	37	c.2012	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309905	0.40895	.	.	ENSG00000158220	ENST00000389567	T	0.43294	0.95	4.63	1.84	0.25277	.	0.747636	0.12671	N	0.448796	T	0.35068	0.0919	L	0.51422	1.61	0.80722	D	1	P	0.37864	0.61	B	0.38106	0.265	T	0.06516	-1.0822	10	0.41790	T	0.15	-29.5187	6.5078	0.22204	0.1727:0.1482:0.679:0.0	.	671	A0FGR9	ESYT3_HUMAN	I	671	ENSP00000374218:S671I	ENSP00000374218:S671I	S	+	2	0	ESYT3	139674166	0.995000	0.38212	0.989000	0.46669	0.971000	0.66376	0.475000	0.22164	0.191000	0.20236	-0.448000	0.05591	AGT	ESYT3	-	NULL	ENSG00000158220		0.582	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	-	0	61	0	G	NM_031913		138191476	1	tier1	-	no_errors	ENST00000389567	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.999	T	T	138191476	G	T	138191476	3	4	126	1	0	0	0	0	1	0	0	0	5282	1029	36	3	2082	3	ESYT3	3	138191476	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	8066486	138191476	59830954	76	32494											
PEX5L	51555	genome.wustl.edu	37	chr3	179525562	179525562	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtataggcctccacggcttCctcgctgcggtctccgttcg	3	11	11	16	6	1	0	0	0	1	0	6	0	3	0	4	3	1	4	4	3	2	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:179525562C>A	ENST00000467460.1	-	14	1906	c.1576G>T	c.(1576-1578)Gaa>Taa	p.E526*	PEX5L_ENST00000465751.1_Nonsense_Mutation_p.E502*|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.E418*|PEX5L_ENST00000485199.1_Nonsense_Mutation_p.E491*|PEX5L_ENST00000263962.8_Nonsense_Mutation_p.E524*|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.E467*|PEX5L_ENST00000476138.1_Nonsense_Mutation_p.E483*|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.E418*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.E334*	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	526					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.E526K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCCACGGCTTCCTCGCTGCGG	0.542																																																	1	Substitution - Missense(1)	lung(1)											135	140	138					3																	179525562		2203	4300	6503	SO:0001587	stop_gained	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1576G>T	3.37:g.179525562C>A	ENSP00000419975:p.Glu526*		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Nonsense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E526*	ENST00000467460.1	37	c.1576	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.298002	0.97453	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.0475	20.6525	0.99598	0.0:1.0:0.0:0.0	.	.	.	.	X	526;524;491;524;418;334;483;414;467;418;502	.	ENSP00000263962:E524X	E	-	1	0	PEX5L	181008256	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.747000	0.85070	2.890000	0.99128	0.585000	0.79938	GAA	PEX5L	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000114757		0.542	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1		0	53	0	C	NM_016559		179525562	-1			no_errors	ENST00000467460	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	A	A	179525562	C	A	179525562	4	1	126	1	0	0	0	0	0	1	0	0	11788	864	30	3	312	3	PEX5L	3	179525562	Nonsense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	41334086	179525562	18496868	77	32495											
PSMD2	5708	genome.wustl.edu	37	chr3	184019770	184019770	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgcagagcatgaggcttgCgacctgcttatggaaattga	12	10	12	7	1	0	3	0	2	0	1	0	5	0	4	1	2	4	4	1	2	3	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:184019770C>T	ENST00000310118.4	+	5	1173	c.615C>T	c.(613-615)tgC>tgT	p.C205C	PSMD2_ENST00000435761.1_Silent_p.C46C|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.C75C	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	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 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)	ATGAGGCTTGCGACCTGCTTA	0.507																																					Colon(24;313 636 6917 9932 15554)												0													115	106	109					3																	184019770		2203	4300	6503	SO:0001819	synonymous_variant	0			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.615C>T	3.37:g.184019770C>T			B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Silent	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	p.C205	ENST00000310118.4	37	c.615	CCDS3258.1	3																																																																																			PSMD2	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	ENSG00000175166		0.507	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD2	HGNC	protein_coding	OTTHUMT00000345843.1		0	62	0	C	NM_002808		184019770	1			no_errors	ENST00000310118	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.996	T	T	184019770	C	T	184019770	2	4	126	1	0	0	0	0	0	0	0	1	12740	776	27	1		1	PSMD2	3	184019770	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	4494208	184019770	14002660	78	32496											
CLCN2	1181	genome.wustl.edu	37	chr3	184075234	184075234	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	gccccgccagtagttccgcaCtgcaaagaaggtggaggtga	10	6	14	11	2	0	2	0	1	0	1	1	3	1	3	4	3	1	4	4	3	3	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:184075234C>G	ENST00000265593.4	-	8	985	c.814G>C	c.(814-816)Gtg>Ctg	p.V272L	CLCN2_ENST00000457512.1_Missense_Mutation_p.V272L|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000434054.2_Missense_Mutation_p.V228L|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.V272L	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	272					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)	TAGTTCCGCACTGCAAAGAAG	0.632																																																	0													91	102	98					3																	184075234		2203	4300	6503	SO:0001583	missense	0			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.814G>C	3.37:g.184075234C>G	ENSP00000265593:p.Val272Leu		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.V272L	ENST00000265593.4	37	c.814	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	c	24.3	4.517808	0.85495	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.53	5.53	0.82687	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95207	0.8446	L	0.40543	1.245	0.80722	D	1	D;D;P;P;D	0.89917	0.988;1.0;0.752;0.694;0.999	D;D;P;B;D	0.87578	0.919;0.998;0.56;0.25;0.975	D	0.95702	0.8750	10	0.87932	D	0	-22.2061	18.2313	0.89936	0.0:1.0:0.0:0.0	.	272;228;272;272;272	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	L	272;272;228;272	ENSP00000265593:V272L;ENSP00000345056:V272L;ENSP00000400425:V228L;ENSP00000391928:V272L	ENSP00000265593:V272L	V	-	1	0	CLCN2	185557928	1.000000	0.71417	0.220000	0.23810	0.777000	0.43975	7.805000	0.86005	2.596000	0.87737	0.561000	0.74099	GTG	CLCN2	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000114859		0.632	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	-	0	122	0	C			184075234	-1	tier1	-	no_errors	ENST00000265593	ensembl	human	known	74_37	missense	89.62	11	95	SNP	1.000	G	G	184075234	C	G	184075234	3	3	126	1	0	0	0	0	1	0	0	0	3470	565	20	5	1950	5	CLCN2	3	184075234	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	55464	184075234	13947196	79	32497											
MASP1	5648	genome.wustl.edu	37	chr3	186974517	186974517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaatatgtcctcaaactGcaggttgaccatgaaaccct	13	10	7	11	0	2	2	2	2	0	0	3	2	3	2	3	1	3	2	3	1	4	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:186974517G>T	ENST00000337774.5	-	5	1068	c.679C>A	c.(679-681)Cag>Aag	p.Q227K	MASP1_ENST00000296280.6_Missense_Mutation_p.Q227K|MASP1_ENST00000392472.2_Missense_Mutation_p.Q114K|MASP1_ENST00000392470.2_Missense_Mutation_p.Q201K|MASP1_ENST00000169293.6_Missense_Mutation_p.Q227K|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	227	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				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)		TCCTCAAACTGCAGGTTGACC	0.522																																																	0													195	160	172					3																	186974517		2203	4300	6503	SO:0001583	missense	0			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.679C>A	3.37:g.186974517G>T	ENSP00000336792:p.Gln227Lys		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.Q227K	ENST00000337774.5	37	c.679	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	4.786	0.146175	0.09134	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.53	5.53	0.82687	CUB (5);	0.265717	0.39687	N	0.001290	T	0.11580	0.0282	N	0.21324	0.655	0.36923	D	0.891491	B;B;B;B;B	0.22800	0.009;0.004;0.075;0.004;0.005	B;B;B;B;B	0.25291	0.004;0.003;0.059;0.004;0.005	T	0.09907	-1.0653	10	0.07482	T	0.82	.	13.9951	0.64392	0.0:0.0:0.839:0.161	.	201;227;114;227;227	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	K	227;227;114;114;227;201	ENSP00000336792:Q227K;ENSP00000296280:Q227K;ENSP00000376264:Q114K;ENSP00000169293:Q227K;ENSP00000376262:Q201K	ENSP00000169293:Q227K	Q	-	1	0	MASP1	188457211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.101000	0.41787	2.588000	0.87417	0.561000	0.74099	CAG	MASP1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000127241		0.522	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	-	0	81	0	G	NM_001879		186974517	-1	tier1	-	no_errors	ENST00000296280	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	186974517	G	T	186974517	3	4	126	1	0	0	0	0	1	0	0	0	9360	1328	46	3	2413	3	MASP1	3	186974517	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2899283	186974517	11047913	80	32498											
TP63	8626	genome.wustl.edu	37	chr3	189585728	189585728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattgttactctggaaaccaGagagtaagtggcgtatgtaa	13	11	11	6	1	1	1	0	0	1	1	1	3	1	2	1	2	2	4	1	2	5	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr3:189585728G>A	ENST00000264731.3	+	7	1078	c.989G>A	c.(988-990)aGa>aAa	p.R330K	TP63_ENST00000418709.2_Missense_Mutation_p.R330K|TP63_ENST00000437221.1_Missense_Mutation_p.R236K|TP63_ENST00000456148.1_Missense_Mutation_p.R236K|TP63_ENST00000320472.5_Missense_Mutation_p.R330K|TP63_ENST00000392463.2_Missense_Mutation_p.R236K|TP63_ENST00000354600.5_Missense_Mutation_p.R236K|TP63_ENST00000449992.1_Missense_Mutation_p.R151K|TP63_ENST00000382063.4_Missense_Mutation_p.R245K|TP63_ENST00000440651.2_Missense_Mutation_p.R330K|TP63_ENST00000392460.3_Missense_Mutation_p.R330K|TP63_ENST00000392461.3_Missense_Mutation_p.R236K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	330					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)		CTGGAAACCAGAGAGTAAGTG	0.398										HNSCC(45;0.13)																																							0													75	68	70					3																	189585728		2203	4300	6503	SO:0001583	missense	0			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.989G>A	3.37:g.189585728G>A	ENSP00000264731:p.Arg330Lys		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.R330K	ENST00000264731.3	37	c.989	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824797	0.71143	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99732	-6.56;-6.56;-6.56;-6.56;-6.56;-6.56;-6.56;-6.56;-6.56;-6.56;-6.57;-6.56	5.61	5.61	0.85477	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	0.99118	0.9696	N	0.11724	0.165	0.80722	D	1	B;P;P;P;P;P;P;B;P;P	0.52842	0.099;0.946;0.946;0.946;0.946;0.946;0.956;0.099;0.956;0.946	B;D;D;P;D;P;P;B;D;D	0.67103	0.367;0.914;0.914;0.895;0.914;0.848;0.906;0.367;0.949;0.914	D	0.99744	1.1016	9	.	.	.	-11.7963	18.6204	0.91319	0.0:0.0:1.0:0.0	.	151;330;330;236;236;236;236;330;330;330	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	K	330;330;330;330;330;245;236;236;236;236;151;236	ENSP00000264731:R330K;ENSP00000407144:R330K;ENSP00000317510:R330K;ENSP00000376253:R330K;ENSP00000394337:R330K;ENSP00000371495:R245K;ENSP00000346614:R236K;ENSP00000392488:R236K;ENSP00000376256:R236K;ENSP00000376254:R236K;ENSP00000387839:R151K;ENSP00000389485:R236K	.	R	+	2	0	TP63	191068422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.652000	0.90054	0.655000	0.94253	AGA	TP63	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000073282		0.398	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	-	0	96	0	G	NM_003722		189585728	1	tier1	-	no_errors	ENST00000264731	ensembl	human	known	74_37	missense	16.18	56	11	SNP	1.000	A	A	189585728	G	A	189585728	3	1	126	1	0	0	0	0	1	0	0	0	16440	942	33	3	1061	3	TP63	3	189585728	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2611211	189585728	8436702	81	32499											
ATP10D	57205	genome.wustl.edu	37	chr4	47548721	47548721	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtggttccctcagcaatAtggcaaaaccgagagccccc	11	7	9	14	1	2	1	2	0	0	1	3	2	3	1	4	2	3	3	4	2	4	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:47548721A>G	ENST00000273859.3	+	10	1746	c.1477A>G	c.(1477-1479)Atg>Gtg	p.M493V	ATP10D_ENST00000504445.1_Missense_Mutation_p.M478V	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	493					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						CCTCAGCAATATGGCAAAACC	0.478																																																	0													116	120	119					4																	47548721		2203	4300	6503	SO:0001583	missense	0			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.1477A>G	4.37:g.47548721A>G	ENSP00000273859:p.Met493Val		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.M493V	ENST00000273859.3	37	c.1477	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	A	1.042	-0.678652	0.03378	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.67865	-0.29;4.12	4.78	-2.06	0.07298	HAD-like domain (1);	0.430440	0.22233	N	0.062787	T	0.50480	0.1618	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.34378	-0.9831	10	0.27785	T	0.31	-4.0805	10.4237	0.44365	0.517:0.0:0.483:0.0	.	493;478	Q9P241;Q6PEW3	AT10D_HUMAN;.	V	493;478	ENSP00000273859:M493V;ENSP00000420909:M478V	ENSP00000273859:M493V	M	+	1	0	ATP10D	47243478	0.219000	0.23619	0.002000	0.10522	0.588000	0.36517	0.682000	0.25335	-0.499000	0.06623	0.402000	0.26972	ATG	ATP10D	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.478	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	-	0	67	0	A	NM_020453		47548721	1	tier1	-	no_errors	ENST00000273859	ensembl	human	known	74_37	missense	43.48	11	10	SNP	0.005	G	G	47548721	A	G	47548721	3	3	126	1	0	0	0	0	1	0	0	0	1119	449	16	4	1511	4	ATP10D	4	47548721	Missense_Mutation	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09		47548721	143605555	82	32500											
AASDH	132949	genome.wustl.edu	37	chr4	57216134	57216134	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tttttcaatctcactgaggaGccggatggactttaaggaat	11	13	10	7	1	2	1	2	1	1	0	3	5	2	5	1	4	1	0	1	4	3	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:57216134G>A	ENST00000205214.6	-	11	1963	c.1783C>T	c.(1783-1785)Ctc>Ttc	p.L595F	AASDH_ENST00000434343.2_Missense_Mutation_p.L110F|AASDH_ENST00000602986.1_Missense_Mutation_p.L442F|AASDH_ENST00000502617.1_Missense_Mutation_p.L595F|AASDH_ENST00000513376.1_Missense_Mutation_p.L495F|AASDH_ENST00000451613.1_Missense_Mutation_p.L595F	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	595	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCACTGAGGAGCCGGATGGAC	0.403																																																	0													38	39	39					4																	57216134		2198	4300	6498	SO:0001583	missense	0			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1783C>T	4.37:g.57216134G>A	ENSP00000205214:p.Leu595Phe		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.L595F	ENST00000205214.6	37	c.1783	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493745	0.26774	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.92	3.24	0.37175	Acyl carrier protein-like (2);Phosphopantetheine-binding (1);	0.161068	0.56097	N	0.000029	T	0.42108	0.1188	L	0.41356	1.27	0.43632	D	0.996026	P;P;B;B	0.38420	0.63;0.458;0.228;0.145	B;B;B;B	0.42522	0.39;0.255;0.163;0.094	T	0.17776	-1.0358	10	0.25751	T	0.34	-5.5371	6.0846	0.19960	0.4067:0.0:0.5933:0.0	.	442;595;595;595	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	F	595;495;110;595;442;595	ENSP00000205214:L595F;ENSP00000423760:L495F;ENSP00000392158:L110F;ENSP00000409656:L595F;ENSP00000421171:L595F	ENSP00000205214:L595F	L	-	1	0	AASDH	56910891	1.000000	0.71417	0.999000	0.59377	0.501000	0.33797	2.220000	0.42908	1.513000	0.48852	0.655000	0.94253	CTC	AASDH	-	pfam_Acyl_carrier_prot-like,superfamily_Acyl_carrier_prot-like,pfscan_Acyl_carrier_prot-like	ENSG00000157426		0.403	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	-	0	94	0	G	NM_181806		57216134	-1	tier1	-	no_errors	ENST00000205214	ensembl	human	known	74_37	missense	20.97	47	13	SNP	0.993	A	A	57216134	G	A	57216134	3	1	126	1	0	0	0	0	1	0	0	0	22	971	34	3	1533	3	AASDH	4	57216134	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	9667413	57216134	133938142	83	32501											
WDFY3	23001	genome.wustl.edu	37	chr4	85724488	85724488	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggccagtaggtccagcatGgcaagcatggctccaggatg	10	6	15	10	0	0	0	0	0	0	0	2	2	2	1	3	5	2	5	3	5	2	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:85724488G>A	ENST00000295888.4	-	16	2969	c.2562C>T	c.(2560-2562)gcC>gcT	p.A854A	WDFY3_ENST00000512267.1_5'UTR|WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Silent_p.A854A	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	854					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)		GGTCCAGCATGGCAAGCATGG	0.453																																																	0													77	71	73					4																	85724488		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2562C>T	4.37:g.85724488G>A			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A854	ENST00000295888.4	37	c.2562	CCDS3609.1	4																																																																																			WDFY3	-	superfamily_ARM-type_fold	ENSG00000163625		0.453	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0	68	0	G	NM_014991		85724488	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.255	A	A	85724488	G	A	85724488	2	1	126	1	0	0	0	0	0	0	0	1	17319	1335	47	3		3	WDFY3	4	85724488	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	28508354	85724488	105429788	84	32502											
WDFY3	23001	genome.wustl.edu	37	chr4	85729487	85729487	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttatatgatcagtacCttttcctggacaaagctggt	9	16	7	9	0	2	1	1	1	1	0	4	2	3	2	2	2	2	2	2	2	4	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:85729487C>G	ENST00000295888.4	-	15	2836	c.2429G>C	c.(2428-2430)aGg>aCg	p.R810T	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Splice_Site_p.R810T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	810					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)		TGATCAGTACCTTTTCCTGGA	0.418																																																	0													166	164	165					4																	85729487		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2429+1G>C	4.37:g.85729487C>G			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R810T	ENST00000295888.4	37	c.2429	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566626	0.65651	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64085	-0.08;-0.08	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	L	0.47716	1.5	0.80722	D	1	P	0.40398	0.716	B	0.38655	0.278	T	0.56860	-0.7909	9	.	.	.	.	19.9155	0.97058	0.0:1.0:0.0:0.0	.	810	Q8IZQ1	WDFY3_HUMAN	T	810	ENSP00000318466:R810T;ENSP00000295888:R810T	.	R	-	2	0	WDFY3	85948511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.380000	0.79704	2.699000	0.92147	0.650000	0.86243	AGG	WDFY3	-	superfamily_ARM-type_fold	ENSG00000163625		0.418	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0	142	0	C	NM_014991	Missense_Mutation	85729487	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	12.50	70	10	SNP	1.000	G	G	85729487	C	G	85729487	5	3	126	1	0	0	0	0	0	0	1	0	17319	695	24	5	8367	5	WDFY3	4	85729487	Splice_Site	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	4999	85729487	105424789	85	32503											
DAPP1	27071	genome.wustl.edu	37	chr4	100784193	100784193	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaacaagatggtttactctGcacaggaatgaactgaaata	18	9	8	6	0	1	3	0	2	1	1	1	4	1	4	0	2	4	2	0	2	8	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:100784193G>T	ENST00000512369.1	+	6	632	c.564G>T	c.(562-564)ctG>ctT	p.L188L	DAPP1_ENST00000296414.7_Silent_p.L188L	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	188	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		GGTTTACTCTGCACAGGAATG	0.333																																																	0													60	60	60					4																	100784193		1836	4094	5930	SO:0001819	synonymous_variant	0			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.564G>T	4.37:g.100784193G>T			Q8TCK5|Q9UHF2	Silent	SNP	pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2	p.L188	ENST00000512369.1	37	c.564	CCDS47112.1	4																																																																																			DAPP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000070190		0.333	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAPP1	HGNC	protein_coding	OTTHUMT00000363215.1	-	0	178	0	G			100784193	1	tier1	-	no_errors	ENST00000512369	ensembl	human	known	74_37	silent	42.35	49	36	SNP	1.000	T	T	100784193	G	T	100784193	2	4	126	1	0	0	0	0	0	0	0	1	4248	1306	46	3		3	DAPP1	4	100784193	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	15054706	100784193	90370083	86	32504											
FAT4	79633	genome.wustl.edu	37	chr4	126336313	126336313	+	Silent	SNP	T	T	C	0	1	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	attccagaaaatacacctatTgatactgttgttttcaaagc	14	14	5	8	0	1	2	1	1	0	1	2	2	2	2	2	0	3	2	2	0	6	8			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:126336313T>C	ENST00000394329.3	+	5	6208	c.6195T>C	c.(6193-6195)atT>atC	p.I2065I	FAT4_ENST00000335110.5_Silent_p.I363I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2065	Cadherin 20. {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						ATACACCTATTGATACTGTTG	0.398																																																	0													144	146	145					4																	126336313		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6195T>C	4.37:g.126336313T>C			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I2065	ENST00000394329.3	37	c.6195	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196159		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	59	0	T	NM_024582		126336313	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	silent	26.92	19	7	SNP	0.874	C	C	126336313	T	C	126336313	2	2	126	1	0	0	0	0	0	0	0	1	5714	1800	63	4		4	FAT4	4	126336313	Silent	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09	25552120	126336313	64817963	87	32505											
RNF175	285533	genome.wustl.edu	37	chr4	154631573	154631573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactattcctatcaccacaGgttgccaggccaccaaataa	14	8	6	13	0	1	0	1	0	0	0	2	1	2	0	5	2	2	1	5	2	5	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:154631573G>T	ENST00000347063.4	-	9	1307	c.935C>A	c.(934-936)cCt>cAt	p.P312H		NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	312						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TATCACCACAGGTTGCCAGGC	0.448																																																	0													77	71	73					4																	154631573		1925	4136	6061	SO:0001583	missense	0			BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"RING-type (C3HC4) zinc fingers"	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.935C>A	4.37:g.154631573G>T	ENSP00000340979:p.Pro312His		C9JL66|Q8NB61	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.P312H	ENST00000347063.4	37	c.935	CCDS47149.1	4	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435844	0.83885	.	.	ENSG00000145428	ENST00000347063	T	0.65549	-0.16	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000001	D	0.82545	0.5060	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86458	0.1777	10	0.87932	D	0	-14.2741	15.001	0.71473	0.0:0.0:1.0:0.0	.	312	Q8N4F7	RN175_HUMAN	H	312	ENSP00000340979:P312H	ENSP00000340979:P312H	P	-	2	0	RNF175	154851023	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.745000	0.68672	2.646000	0.89796	0.655000	0.94253	CCT	RNF175	-	NULL	ENSG00000145428		0.448	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	RNF175	HGNC	protein_coding	OTTHUMT00000365286.1	-	0	95	0	G	NM_173662		154631573	-1	tier1	-	no_errors	ENST00000347063	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	154631573	G	T	154631573	3	4	126	1	0	0	0	0	1	0	0	0	13508	1000	35	3	55	3	RNF175	4	154631573	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	28295260	154631573	36522703	88	32506											
MAP9	79884	genome.wustl.edu	37	chr4	156283237	156283237	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctcagatcctggtgaaaaAgaatctccaagaatttgttt	13	12	7	9	0	2	4	1	1	1	3	4	4	3	4	3	1	0	1	3	1	5	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:156283237A>G	ENST00000311277.4	-	6	1028	c.765T>C	c.(763-765)tcT>tcC	p.S255S	AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000417474.1_RNA|MAP9_ENST00000515654.1_Silent_p.S255S|AC097467.2_ENST00000594666.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	255					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)		CTGGTGAAAAAGAATCTCCAA	0.323																																																	0													95	100	98					4																	156283237		2203	4300	6503	SO:0001819	synonymous_variant	0			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.765T>C	4.37:g.156283237A>G			Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Silent	SNP	NULL	p.S255	ENST00000311277.4	37	c.765	CCDS35493.1	4																																																																																			MAP9	-	NULL	ENSG00000164114		0.323	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	-	0	78	0	A	NM_001039580		156283237	-1	tier1	-	no_errors	ENST00000311277	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.000	G	G	156283237	A	G	156283237	2	3	126	1	0	0	0	0	0	0	0	1	9308	59	3	4		4	MAP9	4	156283237	Silent	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	1651664	156283237	34871039	89	32507											
ACCN5	51802	genome.wustl.edu	37	chr4	156764980	156764980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggttatcagtgaatgcCtcctgaaacaaaaatatgtt	13	12	9	7	0	1	2	1	2	0	0	2	2	2	2	2	1	2	3	2	1	6	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:156764980C>A	ENST00000537611.2	-	5	760	c.714G>T	c.(712-714)gaG>gaT	p.E238D		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	238					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										CAGTGAATGCCTCCTGAAACA	0.383																																																	0													92	78	83					4																	156764980		2203	4300	6503	SO:0001583	missense	0			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.714G>T	4.37:g.156764980C>A	ENSP00000442477:p.Glu238Asp			Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.E238D	ENST00000537611.2	37	c.714	CCDS3793.1	4	.	.	.	.	.	.	.	.	.	.	C	3.788	-0.044352	0.07452	.	.	ENSG00000256394	ENST00000537611	T	0.61980	0.06	4.58	-0.86	0.10680	.	0.455403	0.21826	N	0.068544	T	0.35856	0.0946	N	0.21373	0.66	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.07501	-1.0769	10	0.18710	T	0.47	-8.913	2.5238	0.04686	0.1218:0.2848:0.1203:0.4731	.	238	Q9NY37	ACCN5_HUMAN	D	238	ENSP00000442477:E238D	ENSP00000264432:E238D	E	-	3	2	ACCN5	156984430	0.781000	0.28676	0.651000	0.29564	0.881000	0.50899	0.007000	0.13174	-0.108000	0.12066	-0.229000	0.12294	GAG	ASIC5	-	pfam_Na+channel_ASC,prints_Na+channel_ASC	ENSG00000256394		0.383	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC5	HGNC	protein_coding	OTTHUMT00000366464.1	-	0	107	0	C			156764980	-1	tier1	-	no_errors	ENST00000537611	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.085	A	A	156764980	C	A	156764980	3	1	126	1	0	0	0	0	1	0	0	0	132	680	24	3	827	3	ACCN5	4	156764980	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	481743	156764980	34389296	90	32508											
NPY1R	4886	genome.wustl.edu	37	chr4	164247139	164247139	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttgtctttgtacgcatCaagtgttacattttggaacg	9	17	9	6	2	2	0	1	0	1	0	2	1	2	1	0	1	3	4	0	1	5	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:164247139C>A	ENST00000296533.2	-	2	1099	c.568G>T	c.(568-570)Gat>Tat	p.D190Y	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	190					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)				TTGTACGCATCAAGTGTTACA	0.433																																																	0													122	108	113					4																	164247139		2203	4300	6503	SO:0001583	missense	0				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.568G>T	4.37:g.164247139C>A	ENSP00000354652:p.Asp190Tyr		B2R6H5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.D190Y	ENST00000296533.2	37	c.568	CCDS34089.1	4	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291234	0.23564	.	.	ENSG00000164128	ENST00000296533;ENST00000512819	T;T	0.72505	1.2;-0.66	5.84	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.509670	0.19234	N	0.119339	T	0.74215	0.3687	L	0.46819	1.47	0.09310	N	0.999993	P	0.48016	0.904	P	0.50378	0.639	T	0.67929	-0.5543	10	0.48119	T	0.1	.	18.6015	0.91249	0.0:0.8735:0.1265:0.0	.	190	P25929	NPY1R_HUMAN	Y	190;12	ENSP00000354652:D190Y;ENSP00000421618:D12Y	ENSP00000354652:D190Y	D	-	1	0	NPY1R	164466589	0.027000	0.19231	0.041000	0.18516	0.489000	0.33432	2.050000	0.41297	2.771000	0.95319	0.655000	0.94253	GAT	NPY1R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt	ENSG00000164128		0.433	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY1R	HGNC	protein_coding	OTTHUMT00000364685.1		0	84	0	C			164247139	-1			no_errors	ENST00000296533	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.001	A	A	164247139	C	A	164247139	3	1	126	1	0	0	0	0	1	0	0	0	10647	826	29	3	594	3	NPY1R	4	164247139	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	7482159	164247139	26907137	91	32509											
MARCH1	55016	genome.wustl.edu	37	chr4	164466807	164466807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcaatacatacaaagacCaaaccacacaggtgatcgcg	17	6	6	12	2	1	2	1	1	0	1	2	2	1	2	2	1	3	0	2	1	6	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:164466807C>A	ENST00000503008.1	-	7	1488	c.512G>T	c.(511-513)tGg>tTg	p.W171L	MARCH1_ENST00000339875.5_Missense_Mutation_p.W154L|MARCH1_ENST00000514618.1_Missense_Mutation_p.W427L|MARCH1_ENST00000274056.7_Missense_Mutation_p.W171L	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	171					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)				ATACAAAGACCAAACCACACA	0.438																																																	0													270	204	226					4																	164466807		2203	4300	6503	SO:0001583	missense	0			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.512G>T	4.37:g.164466807C>A	ENSP00000427223:p.Trp171Leu		D3DP29|Q9NWR0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.W171L	ENST00000503008.1	37	c.512	CCDS54814.1	4	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945069	0.73672	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875	T;T;T;T	0.33216	1.85;1.85;1.42;1.46	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000004	T	0.43033	0.1229	L	0.61218	1.895	0.80722	D	1	P;P	0.49783	0.928;0.48	P;B	0.49387	0.609;0.204	T	0.34179	-0.9839	10	0.40728	T	0.16	-18.5732	18.0874	0.89462	0.0:1.0:0.0:0.0	.	171;154	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	L	171;171;427;154	ENSP00000274056:W171L;ENSP00000427223:W171L;ENSP00000421322:W427L;ENSP00000345676:W154L	ENSP00000274056:W171L	W	-	2	0	MARCH1	164686257	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	7.487000	0.81328	2.270000	0.75569	0.655000	0.94253	TGG	MARCH1	-	NULL	ENSG00000145416		0.438	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH1	HGNC	protein_coding	OTTHUMT00000364493.2	-	0	68	0	C	NM_017923		164466807	-1	tier1	-	no_errors	ENST00000274056	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A	A	164466807	C	A	164466807	3	1	126	1	0	0	0	0	1	0	0	0	9336	595	21	3	365	3	MARCH1	4	164466807	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	219668	164466807	26687469	92	32510											
C4orf41	60684	genome.wustl.edu	37	chr4	184601286	184601286	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttaagattccaggcctttGgagatttatttgatgaagct	10	16	9	6	0	0	4	0	2	0	2	1	5	1	4	2	2	1	1	2	2	3	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:184601286G>T	ENST00000334690.6	+	10	1181	c.979G>T	c.(979-981)Gga>Tga	p.G327*	TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.G327*	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	327					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											CCAGGCCTTTGGAGATTTATT	0.368																																																	0													68	70	70					4																	184601286		2202	4300	6502	SO:0001587	stop_gained	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.979G>T	4.37:g.184601286G>T	ENSP00000335371:p.Gly327*		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Nonsense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.G327*	ENST00000334690.6	37	c.979	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	G	41	8.692337	0.98916	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	.	.	.	X	327	.	ENSP00000335371:G327X	G	+	1	0	C4orf41	184838280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.831000	0.97527	0.650000	0.86243	GGA	TRAPPC11	-	pfam_Foie-gras_1	ENSG00000168538		0.368	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	-	0	53	0	G	NM_021942		184601286	1	tier1	-	no_errors	ENST00000334690	ensembl	human	known	74_37	nonsense	9.38	29	3	SNP	1.000	T	T	184601286	G	T	184601286	4	4	126	1	0	0	0	0	0	1	0	0	2277	1349	47	3	1013	3	C4orf41	4	184601286	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	20134479	184601286	6552990	93	32511											
CCDC110	256309	genome.wustl.edu	37	chr4	186379789	186379789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttgtctggcagcagtaGattcttgtaatgttgtttca	9	18	9	5	0	3	1	1	0	2	1	3	1	3	1	0	1	1	6	0	1	3	8			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr4:186379789G>T	ENST00000307588.3	-	6	2027	c.1952C>A	c.(1951-1953)tCt>tAt	p.S651Y	CCDC110_ENST00000510617.1_Missense_Mutation_p.S651Y|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.S614Y	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	651						nucleus (GO:0005634)		p.S651Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GGCAGCAGTAGATTCTTGTAA	0.323																																																	1	Substitution - Missense(1)	large_intestine(1)											87	93	91					4																	186379789		2202	4295	6497	SO:0001583	missense	0			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1952C>A	4.37:g.186379789G>T	ENSP00000306776:p.Ser651Tyr		Q86YI9|Q8N7W0	Missense_Mutation	SNP	superfamily_4_helix_cytokine-like_core	p.S651Y	ENST00000307588.3	37	c.1952	CCDS3843.1	4	.	.	.	.	.	.	.	.	.	.	G	0.124	-1.122043	0.01785	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.35048	1.33;1.33;1.33	5.54	3.77	0.43336	.	0.500539	0.18618	N	0.135963	T	0.40670	0.1126	L	0.60455	1.87	0.09310	N	1	D;D;D	0.56035	0.974;0.974;0.974	P;P;P	0.54312	0.748;0.748;0.748	T	0.26950	-1.0088	10	0.02654	T	1	-1.1126	10.5552	0.45112	0.0:0.2703:0.5899:0.1399	.	651;614;651	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	Y	614;651;651	ENSP00000377172:S614Y;ENSP00000306776:S651Y;ENSP00000427246:S651Y	ENSP00000306776:S651Y	S	-	2	0	CCDC110	186616783	0.448000	0.25681	0.892000	0.35008	0.685000	0.39939	1.430000	0.34914	0.768000	0.33290	0.650000	0.86243	TCT	CCDC110	-	NULL	ENSG00000168491		0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC110	HGNC	protein_coding	OTTHUMT00000360519.2		0	55	0	G	NM_152775		186379789	-1			no_errors	ENST00000307588	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.007	T	T	186379789	G	T	186379789	3	4	126	1	0	0	0	0	1	0	0	0	2754	942	33	3	557	3	CCDC110	4	186379789	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	1778503	186379789	4774487	94	32512											
PDZD2	23037	genome.wustl.edu	37	chr5	32108223	32108223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagttattaattagaaaGcataggaattcttcatgaat	15	14	8	4	0	2	2	1	1	1	1	2	3	2	3	0	1	2	3	0	1	7	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:32108223G>T	ENST00000438447.1	+	25	8890	c.8502G>T	c.(8500-8502)aaG>aaT	p.K2834N	CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000513490.1_3'UTR|PDZD2_ENST00000282493.3_Missense_Mutation_p.K2834N			O15018	PDZD2_HUMAN	PDZ domain containing 2	2834	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TAATTAGAAAGCATAGGAATT	0.363																																																	0													76	79	78					5																	32108223		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.8502G>T	5.37:g.32108223G>T	ENSP00000402033:p.Lys2834Asn		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K2834N	ENST00000438447.1	37	c.8502	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006479	0.74932	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.39406	1.08;1.08	5.75	5.75	0.90469	PDZ/DHR/GLGF (3);	0.000000	0.64402	D	0.000020	T	0.65333	0.2681	M	0.72479	2.2	0.40261	D	0.978175	D	0.89917	1.0	D	0.87578	0.998	T	0.67237	-0.5721	10	0.62326	D	0.03	.	17.4372	0.87555	0.0:0.0:1.0:0.0	.	2834	O15018	PDZD2_HUMAN	N	2834;2635;2834	ENSP00000402033:K2834N;ENSP00000282493:K2834N	ENSP00000282493:K2834N	K	+	3	2	PDZD2	32143980	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.354000	0.52254	2.710000	0.92621	0.563000	0.77884	AAG	PDZD2	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000133401		0.363	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0	77	0	G			32108223	1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	32108223	G	T	32108223	3	4	126	1	0	0	0	0	1	0	0	0	11740	962	34	3	8596	3	PDZD2	5	32108223	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		32108223	148807037	95	32513											
PRKAA1	5562	genome.wustl.edu	37	chr5	40767573	40767573	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactgctttattacctgatAtctttgattgtggccctctt	8	18	6	9	0	2	2	0	2	2	0	2	2	2	2	2	1	3	1	2	1	4	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:40767573A>G	ENST00000397128.2	-	6	824	c.816T>C	c.(814-816)gaT>gaC	p.D272D	PRKAA1_ENST00000354209.3_Silent_p.D287D	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	ATTACCTGATATCTTTGATTG	0.348																																																	0													78	73	75					5																	40767573		1819	4078	5897	SO:0001819	synonymous_variant	0				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.816T>C	5.37:g.40767573A>G			A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D287	ENST00000397128.2	37	c.861	CCDS3932.2	5																																																																																			PRKAA1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000132356		0.348	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA1	HGNC	protein_coding	OTTHUMT00000253833.2	-	0	55	0	A	NM_006251		40767573	-1	tier1	-	no_errors	ENST00000354209	ensembl	human	known	74_37	silent	32.14	38	18	SNP	0.996	G	G	40767573	A	G	40767573	2	3	126	1	0	0	0	0	0	0	0	1	12535	446	16	4		4	PRKAA1	5	40767573	Silent	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	8659350	40767573	140147687	96	32514											
C6	729	genome.wustl.edu	37	chr5	41199895	41199895	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacagcgaaatttattcttGcagtcagcctcttcaatttt	10	16	5	10	1	5	0	3	0	2	0	5	1	5	0	1	0	3	1	1	0	3	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:41199895G>T	ENST00000263413.3	-	4	684	c.420C>A	c.(418-420)tgC>tgA	p.C140*	C6_ENST00000337836.5_Nonsense_Mutation_p.C140*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	140	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATTTATTCTTGCAGTCAGCCT	0.428																																																	0													120	120	120					5																	41199895		2203	4300	6503	SO:0001587	stop_gained	0			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.420C>A	5.37:g.41199895G>T	ENSP00000263413:p.Cys140*			Nonsense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.C140*	ENST00000263413.3	37	c.420	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.669248	0.96754	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6735	9.3356	0.38049	0.1514:0.0:0.8486:0.0	.	.	.	.	X	140	.	ENSP00000263413:C140X	C	-	3	2	C6	41235652	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.642000	0.61383	2.857000	0.98124	0.650000	0.86243	TGC	C6	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000039537		0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	-	0	103	0	G			41199895	-1	tier1	-	no_errors	ENST00000263413	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	T	T	41199895	G	T	41199895	4	4	126	1	0	0	0	0	0	1	0	0	2322	1311	46	3	2444	3	C6	5	41199895	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	432322	41199895	139715365	97	32515											
RAD17	5884	genome.wustl.edu	37	chr5	68689059	68689059	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgggatacattacttgttGaacctgaggtaagttctttg	11	14	10	6	1	1	2	0	2	1	0	1	3	1	3	1	2	4	3	1	2	5	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:68689059G>T	ENST00000509734.1	+	13	1978	c.1300G>T	c.(1300-1302)Gaa>Taa	p.E434*	RAD17_ENST00000358030.2_Nonsense_Mutation_p.E258*|RAD17_ENST00000305138.4_Nonsense_Mutation_p.E423*|RAD17_ENST00000361732.2_Nonsense_Mutation_p.E423*|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Nonsense_Mutation_p.E423*|RAD17_ENST00000521422.1_Nonsense_Mutation_p.E258*|RAD17_ENST00000345306.6_Nonsense_Mutation_p.E423*|RAD17_ENST00000354312.3_Nonsense_Mutation_p.E423*|RAD17_ENST00000282891.6_Nonsense_Mutation_p.E337*|RAD17_ENST00000380774.3_Nonsense_Mutation_p.E434*			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	434	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)		ATTACTTGTTGAACCTGAGGT	0.323								Other conserved DNA damage response genes																																									0													82	81	81					5																	68689059		2203	4297	6500	SO:0001587	stop_gained	0			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.1300G>T	5.37:g.68689059G>T	ENSP00000426191:p.Glu434*		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met	p.E434*	ENST00000509734.1	37	c.1300	CCDS4003.1	5	.	.	.	.	.	.	.	.	.	.	G	42	9.406003	0.99161	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	.	.	.	5.45	3.55	0.40652	.	0.736603	0.13582	N	0.377275	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-21.5834	16.2442	0.82434	0.0:0.6676:0.3324:0.0	.	.	.	.	X	423;434;423;258;423;423;423;337;258;434;42	.	ENSP00000282891:E337X	E	+	1	0	RAD17	68724815	0.983000	0.35010	1.000000	0.80357	0.945000	0.59286	0.962000	0.29280	1.285000	0.44548	-0.499000	0.04595	GAA	RAD17	-	tigrfam_Checkpoint_prot_Rad24_fun/met	ENSG00000152942		0.323	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RAD17	HGNC	protein_coding	OTTHUMT00000369171.1	-	0	77	0	G	NM_133344		68689059	1	tier1	-	no_errors	ENST00000380774	ensembl	human	known	74_37	nonsense	10.26	35	4	SNP	0.674	T	T	68689059	G	T	68689059	4	4	126	1	0	0	0	0	0	1	0	0	13024	1291	45	3	1355	3	RAD17	5	68689059	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	27489164	68689059	112226201	98	32516											
MAP1B	4131	genome.wustl.edu	37	chr5	71482557	71482557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttctccttccagaacttCatagagattttcaccgatca	10	15	4	12	1	5	2	3	0	2	2	7	4	6	2	3	0	1	0	3	0	2	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:71482557C>G	ENST00000296755.7	+	4	784	c.486C>G	c.(484-486)ttC>ttG	p.F162L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	162					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)		TCCAGAACTTCATAGAGATTT	0.512																																					Melanoma(17;367 822 11631 31730 47712)												0													99	102	101					5																	71482557		2203	4300	6503	SO:0001583	missense	0			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.486C>G	5.37:g.71482557C>G	ENSP00000296755:p.Phe162Leu		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.F162L	ENST00000296755.7	37	c.486	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336729	0.81801	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.04015	3.73;3.73;3.73	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.07773	0.0195	L	0.49350	1.555	0.80722	D	1	P;P	0.43750	0.816;0.816	B;B	0.43809	0.432;0.31	T	0.01805	-1.1270	10	0.87932	D	0	-20.777	10.3132	0.43721	0.0:0.855:0.0:0.145	.	36;162	A2BDK6;P46821	.;MAP1B_HUMAN	L	162;162;36	ENSP00000296755:F162L;ENSP00000423444:F162L;ENSP00000423416:F36L	ENSP00000296755:F162L	F	+	3	2	MAP1B	71518313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.117000	0.41939	2.691000	0.91804	0.655000	0.94253	TTC	MAP1B	-	NULL	ENSG00000131711		0.512	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0	54	0	C	NM_005909		71482557	1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	G	G	71482557	C	G	71482557	3	3	126	1	0	0	0	0	1	0	0	0	9266	825	29	5	500	5	MAP1B	5	71482557	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	2793498	71482557	109432703	99	32517											
THBS4	7060	genome.wustl.edu	37	chr5	79354543	79354543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctacaggggactttaaccGgcagttcttgggtcaaatga	10	11	11	9	1	2	1	1	1	1	0	3	2	3	2	2	4	2	2	2	4	3	5	rs553602331		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:79354543G>A	ENST00000350881.2	+	5	852	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	THBS4_ENST00000511733.1_Missense_Mutation_p.R130Q|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	221					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)	p.R221Q(1)		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)		GACTTTAACCGGCAGTTCTTG	0.443													G|||	1	0.000199681	0	0	5008	,	,		17229	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)											66	67	67					5																	79354543		2203	4300	6503	SO:0001583	missense	0				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.662G>A	5.37:g.79354543G>A	ENSP00000339730:p.Arg221Gln		B2R909|Q86TG2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R221Q	ENST00000350881.2	37	c.662	CCDS4049.1	5	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893489	0.72639	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	T;T	0.30182	1.54;1.54	5.75	5.75	0.90469	Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain (1);	0.108147	0.64402	D	0.000009	T	0.27134	0.0665	L	0.44542	1.39	0.43885	D	0.996509	P	0.46142	0.873	B	0.37015	0.239	T	0.02958	-1.1089	10	0.21540	T	0.41	-22.2693	18.936	0.92586	0.0:0.0:1.0:0.0	.	221	P35443	TSP4_HUMAN	Q	221;130	ENSP00000339730:R221Q;ENSP00000422298:R130Q	ENSP00000339730:R221Q	R	+	2	0	THBS4	79390299	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	5.437000	0.66544	2.712000	0.92718	0.591000	0.81541	CGG	THBS4	-	pfam_Thbs/COMP_coiled-coil	ENSG00000113296		0.443	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	-	0	81	0	G			79354543	1	tier1	-	no_errors	ENST00000350881	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	A	A	79354543	G	A	79354543	3	1	126	1	0	0	0	0	1	0	0	0	15903	1116	39	1	680	1	THBS4	5	79354543	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	7871986	79354543	101560717	100	32518											
APC	324	genome.wustl.edu	37	chr5	112174217	112174217	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagtgatggttatggtaaaAgaggtcaaatgaaaccctcg	14	10	12	5	1	1	3	1	2	0	1	2	3	1	3	1	3	1	3	1	3	6	3	rs587782846		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:112174217A>G	ENST00000457016.1	+	16	3306	c.2926A>G	c.(2926-2928)Aga>Gga	p.R976G	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.R976G|APC_ENST00000257430.4_Missense_Mutation_p.R976G			P25054	APC_HUMAN	adenomatous polyposis coli	976	Responsible for down-regulation through a process mediated by direct ubiquitination.|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.R976fs*9(3)|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)		TTATGGTAAAAGAGGTCAAAT	0.353		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"	4	Insertion - Frameshift(3)|Unknown(1)	large_intestine(2)|ovary(1)|skin(1)	GRCh37	CD011090|CI991959	APC	D|I							77	72	74					5																	112174217		2202	4300	6502	SO:0001583	missense	0	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.2926A>G	5.37:g.112174217A>G	ENSP00000413133:p.Arg976Gly		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R976G	ENST00000457016.1	37	c.2926	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	A	14.75	2.627350	0.46944	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.96136	-3.18;-3.92;-3.18;-3.18;-3.37	5.75	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	L	0.55481	1.735	0.53688	D	0.999979	D;D	0.60575	0.988;0.988	P;P	0.52793	0.709;0.709	D	0.94649	0.7837	10	0.87932	D	0	-24.0414	11.858	0.52449	0.7219:0.2781:0.0:0.0	.	978;976	Q4LE70;P25054	.;APC_HUMAN	G	976;958;976;976;976	ENSP00000413133:R976G;ENSP00000423224:R958G;ENSP00000257430:R976G;ENSP00000427089:R976G;ENSP00000423828:R976G	ENSP00000257430:R976G	R	+	1	2	APC	112202116	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.861000	0.48380	0.993000	0.38866	0.528000	0.53228	AGA	APC	-	NULL	ENSG00000134982		0.353	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	75	0	A	NM_000038		112174217	1			no_errors	ENST00000257430	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	G	G	112174217	A	G	112174217	3	3	126	1	0	0	0	0	1	0	0	0	763	64	3	4	2984	4	APC	5	112174217	Missense_Mutation	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	32819674	112174217	68741043	101	32519											
SLC12A2	6558	genome.wustl.edu	37	chr5	127450359	127450359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagcaatagcaactaatgGatttgtaagaggaggtaagt	15	11	11	4	0	1	1	1	0	0	1	1	3	1	3	0	3	3	4	0	3	6	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:127450359G>T	ENST00000262461.2	+	4	1223	c.1034G>T	c.(1033-1035)gGa>gTa	p.G345V	SLC12A2_ENST00000343225.4_Missense_Mutation_p.G345V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	345					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)	GCAACTAATGGATTTGTAAGA	0.318																																																	0													122	116	118					5																	127450359		2203	4300	6503	SO:0001583	missense	0				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.1034G>T	5.37:g.127450359G>T	ENSP00000262461:p.Gly345Val		Q8N713|Q8WWH7	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.G345V	ENST00000262461.2	37	c.1034	CCDS4144.1	5	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466634	0.84425	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98666	-5.06;-5.06	5.36	5.36	0.76844	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99429	0.9798	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98556	1.0639	10	0.87932	D	0	.	18.0132	0.89230	0.0:0.0:1.0:0.0	.	345;345	P55011-3;P55011	.;S12A2_HUMAN	V	345	ENSP00000262461:G345V;ENSP00000340878:G345V	ENSP00000262461:G345V	G	+	2	0	SLC12A2	127478258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.838000	0.92115	2.779000	0.95612	0.650000	0.86243	GGA	SLC12A2	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000064651		0.318	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1		0	84	0	G	NM_001046		127450359	1			no_errors	ENST00000262461	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	127450359	G	T	127450359	3	4	126	1	0	0	0	0	1	0	0	0	14428	1174	41	3	1048	3	SLC12A2	5	127450359	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	15276142	127450359	53464901	102	32520											
PCDHA3	56145	genome.wustl.edu	37	chr5	140183243	140183243	+	Intron	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaatgtttccactcctCtggaaatacattaatagtta	12	15	4	10	0	2	0	1	0	1	0	5	1	5	1	3	1	1	2	3	1	6	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:140183243C>A	ENST00000522353.2	+	1	2394				PCDHA3_ENST00000532566.2_Missense_Mutation_p.L821M|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACTCCTCTGGAAATACA	0.313																																																	0													26	33	31					5																	140183243		2184	4294	6478	SO:0001627	intron_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2394+67C>A	5.37:g.140183243C>A			O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L821M	ENST00000522353.2	37	c.2461	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	N	6.440	0.449307	0.12223	.	.	ENSG00000255408	ENST00000532566	T	0.55234	0.53	4.53	2.07	0.26955	.	1.448130	0.05675	U	0.589309	T	0.36331	0.0963	N	0.08118	0	0.09310	N	1	P	0.39624	0.681	B	0.41946	0.371	T	0.32508	-0.9904	9	.	.	.	.	8.876	0.35345	0.0:0.1732:0.0:0.8268	.	821	Q9Y5H8-2	.	M	821	ENSP00000434086:L821M	.	L	+	1	2	PCDHA3	140163427	0.076000	0.21285	0.067000	0.19924	0.004000	0.04260	0.633000	0.24598	0.697000	0.31718	-0.374000	0.07098	CTG	PCDHA3	-	NULL	ENSG00000255408		0.313	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	-	0	41	0	C	NM_018906		140183243	1	tier1	-	no_errors	ENST00000532566	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.000	A	A	140183243	C	A	140183243	1	1	126	0	1	0	0	0	0	0	0	0	11564	912	32	3		3	PCDHA3	5	140183243	Intron	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	12732884	140183243	40732017	103	32521											
PCDHA9	9752	genome.wustl.edu	37	chr5	140229864	140229864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagtggtggggaaggtgcGcgcagtggacgccgactcgg	6	6	20	9	6	0	0	0	0	0	0	1	3	0	2	1	6	1	2	1	6	2	1	rs140634296		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:140229864G>A	ENST00000532602.1	+	1	2817	c.1784G>A	c.(1783-1785)cGc>cAc	p.R595H	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R595H|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	595	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)|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)			GGGAAGGTGCGCGCAGTGGAC	0.692																																					Melanoma(55;1800 1972 14909)												0													60	67	64					5																	140229864		2196	4267	6463	SO:0001583	missense	0			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.1784G>A	5.37:g.140229864G>A	ENSP00000436042:p.Arg595His		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R595H	ENST00000532602.1	37	c.1784	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	G	9.761	1.169963	0.21621	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.52526	0.66;0.66	3.36	2.49	0.30216	Cadherin (4);Cadherin-like (1);	0.000000	0.31660	U	0.007279	T	0.56891	0.2016	L	0.54908	1.71	0.23440	N	0.997671	P;D	0.89917	0.589;1.0	B;D	0.87578	0.235;0.998	T	0.42396	-0.9454	10	0.66056	D	0.02	.	5.3705	0.16136	0.0996:0.0:0.542:0.3585	.	595;595	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	H	595	ENSP00000436042:R595H;ENSP00000367362:R595H	ENSP00000367362:R595H	R	+	2	0	PCDHA9	140210048	0.000000	0.05858	1.000000	0.80357	0.287000	0.27160	0.091000	0.15046	0.727000	0.32360	-0.649000	0.03915	CGC	PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.692	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0	41	0	G	NM_031857		140229864	1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	missense	45.83	13	11	SNP	1.000	A	A	140229864	G	A	140229864	3	1	126	1	0	0	0	0	1	0	0	0	11570	1087	38	1	1786	1	PCDHA9	5	140229864	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	46621	140229864	40685396	104	32522											
PCDHGA9	56107	genome.wustl.edu	37	chr5	140782780	140782780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggcaccttggtcaccgcGggtaggatagaccgggagga	9	5	17	10	4	1	1	1	0	0	1	1	4	1	4	3	6	1	2	3	6	2	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:140782780G>A	ENST00000573521.1	+	1	261	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	87	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)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCACCGCGGGTAGGATAG	0.592																																																	0													51	58	56					5																	140782780		2022	4208	6230	SO:0001819	synonymous_variant	0			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.261G>A	5.37:g.140782780G>A			A2RU65|Q9Y5C9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A87	ENST00000573521.1	37	c.261	CCDS58981.1	5																																																																																			PCDHGA9	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000261934		0.592	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	-	0	51	0	G	NM_018921		140782780	1	tier1	-	no_errors	ENST00000573521	ensembl	human	known	74_37	silent	30.56	25	11	SNP	0.954	A	A	140782780	G	A	140782780	2	1	126	1	0	0	0	0	0	0	0	1	11600	1103	39	1		1	PCDHGA9	5	140782780	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	552916	140782780	40132480	105	32523											
CSF1R	1436	genome.wustl.edu	37	chr5	149436898	149436898	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgggctacttggctggagaaGtgaagcaggtcccggagctc	8	8	16	9	1	0	2	0	1	0	1	2	4	1	3	1	5	3	4	1	5	3	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:149436898G>T	ENST00000286301.3	-	17	2562	c.2271C>A	c.(2269-2271)caC>caA	p.H757Q	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	757	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GGCTGGAGAAGTGAAGCAGGT	0.642																																																	0													59	50	53					5																	149436898		2203	4300	6503	SO:0001583	missense	0			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.2271C>A	5.37:g.149436898G>T	ENSP00000286301:p.His757Gln		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H757Q	ENST00000286301.3	37	c.2271	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	G	4.570	0.105876	0.08780	.	.	ENSG00000182578	ENST00000286301	D	0.81739	-1.53	5.42	0.503	0.16940	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.438258	0.21739	N	0.069842	T	0.56819	0.2011	N	0.10874	0.06	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.25847	-1.0120	10	0.21014	T	0.42	.	6.1353	0.20227	0.3583:0.2808:0.3609:0.0	.	757	P07333	CSF1R_HUMAN	Q	757	ENSP00000286301:H757Q	ENSP00000286301:H757Q	H	-	3	2	CSF1R	149417091	0.852000	0.29690	0.997000	0.53966	0.158000	0.22134	-0.123000	0.10611	0.024000	0.15214	-1.331000	0.01271	CAC	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000182578		0.642	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	-	0	111	0	G	NM_005211		149436898	-1	tier1	-	no_errors	ENST00000286301	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.988	T	T	149436898	G	T	149436898	3	4	126	1	0	0	0	0	1	0	0	0	3941	1020	36	3	671	3	CSF1R	5	149436898	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	8654118	149436898	31478362	106	32524											
NDST1	3340	genome.wustl.edu	37	chr5	149929312	149929312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatggtgcagaagttccttGgggtgaccaacaccattgac	11	9	11	10	0	0	3	0	2	0	1	1	3	1	3	3	3	2	2	3	3	2	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:149929312G>T	ENST00000261797.6	+	13	2891	c.2389G>T	c.(2389-2391)Ggg>Tgg	p.G797W	NDST1_ENST00000523767.1_Missense_Mutation_p.G740W	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	797	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)			GAAGTTCCTTGGGGTGACCAA	0.512																																																	0													134	108	117					5																	149929312		2203	4300	6503	SO:0001583	missense	0			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.2389G>T	5.37:g.149929312G>T	ENSP00000261797:p.Gly797Trp		Q96E57	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.G797W	ENST00000261797.6	37	c.2389	CCDS34277.1	5	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097134	0.76870	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;D	0.90004	-0.32;-2.6	5.01	5.01	0.66863	Sulfotransferase domain (1);	0.144833	0.64402	D	0.000007	D	0.96241	0.8774	H	0.94306	3.52	0.50039	D	0.999849	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97346	0.9960	10	0.87932	D	0	.	18.6686	0.91501	0.0:0.0:1.0:0.0	.	740;797	E7EVJ3;P52848	.;NDST1_HUMAN	W	740;797	ENSP00000428604:G740W;ENSP00000261797:G797W	ENSP00000261797:G797W	G	+	1	0	NDST1	149909505	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	6.611000	0.74183	2.489000	0.83994	0.591000	0.81541	GGG	NDST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000070614		0.512	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	-	0	137	0	G	NM_001543		149929312	1	tier1	-	no_errors	ENST00000261797	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.992	T	T	149929312	G	T	149929312	3	4	126	1	0	0	0	0	1	0	0	0	10294	1348	47	3	2435	3	NDST1	5	149929312	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	492414	149929312	30985948	107	32525											
MFAP3	4238	genome.wustl.edu	37	chr5	153432766	153432766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagaactgaaggggctgaGaaacttcagaaggcctttga	13	10	12	6	0	1	5	1	3	0	3	1	6	1	5	1	3	2	1	1	3	5	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:153432766G>T	ENST00000436816.1	+	3	801	c.582G>T	c.(580-582)gaG>gaT	p.E194D	MFAP3_ENST00000439768.2_Missense_Mutation_p.E48D|MFAP3_ENST00000322602.5_Missense_Mutation_p.E194D	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	194					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AAGGGGCTGAGAAACTTCAGA	0.458																																																	0													71	70	70					5																	153432766		2203	4299	6502	SO:0001583	missense	0				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"Immunoglobulin superfamily / I-set domain containing"	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.582G>T	5.37:g.153432766G>T	ENSP00000409933:p.Glu194Asp		B2RDK0|B4DKA1|Q9NXA7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E194D	ENST00000436816.1	37	c.582	CCDS4324.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522496	0.85600	.	.	ENSG00000037749	ENST00000439768;ENST00000436816;ENST00000322602	T;T	0.32023	1.47;1.47	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	M	0.65975	2.015	0.53688	D	0.999976	D	0.76494	0.999	D	0.78314	0.991	T	0.50617	-0.8807	9	.	.	.	-17.9673	19.8034	0.96518	0.0:0.0:1.0:0.0	.	194	P55082	MFAP3_HUMAN	D	48;194;194	ENSP00000409933:E194D;ENSP00000322956:E194D	.	E	+	3	2	MFAP3	153412959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.385000	0.73182	2.760000	0.94817	0.655000	0.94253	GAG	MFAP3	-	NULL	ENSG00000037749		0.458	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3	HGNC	protein_coding	OTTHUMT00000252457.2	-	0	49	0	G	NM_005927		153432766	1	tier1	-	no_errors	ENST00000322602	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	T	T	153432766	G	T	153432766	3	4	126	1	0	0	0	0	1	0	0	0	9553	933	33	3	588	3	MFAP3	5	153432766	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	3503454	153432766	27482494	108	32526											
MAT2B	27430	genome.wustl.edu	37	chr5	162940973	162940973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaaacaaaattagatggaGaaaaggctgtcctggagaac	18	6	11	6	0	0	3	0	0	0	3	1	5	1	3	1	3	2	2	1	3	8	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:162940973G>A	ENST00000321757.6	+	4	638	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	MAT2B_ENST00000518095.1_Missense_Mutation_p.E167K|MAT2B_ENST00000280969.5_Missense_Mutation_p.E156K	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	167					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|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)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	ATTAGATGGAGAAAAGGCTGT	0.343																																																	0													67	66	67					5																	162940973		2203	4300	6503	SO:0001583	missense	0			AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	6905	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 23E, member 1"	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.499G>A	5.37:g.162940973G>A	ENSP00000325425:p.Glu167Lys		B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Missense_Mutation	SNP	pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase	p.E167K	ENST00000321757.6	37	c.499	CCDS4365.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.500904	0.96371	.	.	ENSG00000038274	ENST00000280969;ENST00000321757;ENST00000421814;ENST00000518095;ENST00000415433	T;T;T;T	0.67865	0.11;0.11;-0.29;0.11	5.66	5.66	0.87406	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87708	0.6245	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.968;0.998;0.996	D	0.90501	0.4474	10	0.87932	D	0	.	19.7538	0.96281	0.0:0.0:1.0:0.0	.	167;167;156	Q9NZL9-3;Q9NZL9;Q9NZL9-2	.;MAT2B_HUMAN;.	K	156;167;102;167;61	ENSP00000280969:E156K;ENSP00000325425:E167K;ENSP00000397371:E102K;ENSP00000428046:E167K	ENSP00000280969:E156K	E	+	1	0	MAT2B	162873551	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.435000	0.97529	2.690000	0.91761	0.655000	0.94253	GAA	MAT2B	-	pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase	ENSG00000038274		0.343	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2B	HGNC	protein_coding	OTTHUMT00000252749.2	-	0	92	0	G	NM_013283		162940973	1	tier1	-	no_errors	ENST00000321757	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	A	A	162940973	G	A	162940973	3	1	126	1	0	0	0	0	1	0	0	0	9369	943	33	3	547	3	MAT2B	5	162940973	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	9508207	162940973	17974287	109	32527											
C5orf25	375484	genome.wustl.edu	37	chr5	175763794	175763794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaatcatattcctccacaGctgtgagacacccacccgcc	12	7	6	16	1	1	2	1	1	0	2	3	3	3	2	5	0	1	1	5	0	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr5:175763794G>T	ENST00000443967.1	+	10	2593	c.2186G>T	c.(2185-2187)aGc>aTc	p.S729I	SIMC1_ENST00000341199.6_Missense_Mutation_p.S314I|SIMC1_ENST00000430704.2_Missense_Mutation_p.S314I|SIMC1_ENST00000332772.4_Missense_Mutation_p.S190I			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	729							SUMO polymer binding (GO:0032184)										TTCCTCCACAGCTGTGAGACA	0.478																																																	0													108	110	109					5																	175763794		2203	4300	6503	SO:0001583	missense	0			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.2186G>T	5.37:g.175763794G>T	ENSP00000406571:p.Ser729Ile		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.S729I	ENST00000443967.1	37	c.2186		5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981520	0.74474	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.40476	1.65;1.65;1.91;1.03	4.72	4.72	0.59763	.	0.213505	0.39407	N	0.001366	T	0.58409	0.2120	L	0.52573	1.65	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.83275	0.996;0.994;0.996	T	0.61287	-0.7093	10	0.87932	D	0	-15.2933	14.5339	0.67947	0.0:0.0:1.0:0.0	.	190;314;729	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	I	314;314;729;190	ENSP00000342075:S314I;ENSP00000409287:S314I;ENSP00000406571:S729I;ENSP00000331311:S190I	ENSP00000331311:S190I	S	+	2	0	C5orf25	175696400	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.026000	0.64103	2.441000	0.82636	0.467000	0.42956	AGC	SIMC1	-	NULL	ENSG00000170085		0.478	SIMC1-001	KNOWN	basic	protein_coding	SIMC1	HGNC	protein_coding	OTTHUMT00000253155.2	-	0	52	0	G	NM_198567		175763794	1	tier1	-	no_errors	ENST00000443967	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T	T	175763794	G	T	175763794	3	4	126	1	0	0	0	0	1	0	0	0	2295	971	34	3	967	3	C5orf25	5	175763794	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	12822821	175763794	5151466	110	32528											
GABBR1	2550	genome.wustl.edu	37	chr6	29588992	29588992	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgatagaagggtcgtaGatcttgaaccaattgtcagc	12	11	11	7	1	2	4	1	2	1	2	3	4	2	4	1	1	2	2	1	1	5	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr6:29588992G>T	ENST00000377034.4	-	11	1544	c.1209C>A	c.(1207-1209)atC>atA	p.I403I	GABBR1_ENST00000376977.3_Silent_p.I403I|GABBR1_ENST00000355973.3_Silent_p.I286I|GABBR1_ENST00000377012.4_Silent_p.I286I|GABBR1_ENST00000377016.4_Silent_p.I341I	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	403					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)	AAGGGTCGTAGATCTTGAACC	0.498																																																	0													174	137	150					6																	29588992		1511	2709	4220	SO:0001819	synonymous_variant	0			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.1209C>A	6.37:g.29588992G>T			B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.I403	ENST00000377034.4	37	c.1209	CCDS4663.1	6																																																																																			GABBR1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000204681		0.498	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	-	0	58	0	G			29588992	-1	tier1	-	no_errors	ENST00000377034	ensembl	human	known	74_37	silent	18.18	36	8	SNP	0.998	T	T	29588992	G	T	29588992	2	4	126	1	0	0	0	0	0	0	0	1	6179	932	33	3		3	GABBR1	6	29588992	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		29588992	141526075	111	32529											
CSNK2B	1460	genome.wustl.edu	37	chr6	31637232	31637232	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttccctcacatgctcttCatggtgcatcccgagtaccg	6	12	9	14	2	3	0	2	0	1	0	5	1	5	0	3	2	3	4	3	2	1	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr6:31637232C>T	ENST00000375882.2	+	6	660	c.504C>T	c.(502-504)ttC>ttT	p.F168F	LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375885.4_Silent_p.F187F|LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375865.2_Silent_p.F168F|CSNK2B_ENST00000375866.2_Silent_p.F168F|CSNK2B-LY6G5B-1181_ENST00000375880.2_Silent_p.F168F	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	168					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						ACATGCTCTTCATGGTGCATC	0.547																																																	0													119	108	112					6																	31637232		2203	4300	6503	SO:0001819	synonymous_variant	0			M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.504C>T	6.37:g.31637232C>T			B0UXA9|P07312|P13862|Q4VX47	Silent	SNP	pfam_Casein_kinase_II_reg-sub,superfamily_Casein_kinase_II_reg-sub,prints_Casein_kinase_II_reg-sub	p.F168	ENST00000375882.2	37	c.504	CCDS4712.1	6																																																																																			CSNK2B	-	pfam_Casein_kinase_II_reg-sub,superfamily_Casein_kinase_II_reg-sub,prints_Casein_kinase_II_reg-sub	ENSG00000204435		0.547	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK2B	HGNC	protein_coding	OTTHUMT00000076063.8	-	0	35	0	C	NM_001320		31637232	1	tier1	-	no_errors	ENST00000375865	ensembl	human	known	74_37	silent	23.81	16	5	SNP	1.000	T	T	31637232	C	T	31637232	2	4	126	1	0	0	0	0	0	0	0	1	3968	825	29	3		3	CSNK2B	6	31637232	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	2048240	31637232	139477835	112	32530											
ZNF451	26036	genome.wustl.edu	37	chr6	57012272	57012272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgttgcttgtgtccaGaaagaaaaatcagtagttaa	15	11	11	4	0	1	2	1	0	0	2	2	3	2	2	1	1	1	4	1	1	6	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr6:57012272G>T	ENST00000370706.4	+	10	1633	c.1389G>T	c.(1387-1389)caG>caT	p.Q463H	ZNF451_ENST00000357489.3_Missense_Mutation_p.Q463H|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.Q463H|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	463					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.Q463H(1)		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)			CTTGTGTCCAGAAAGAAAAAT	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											66	66	66					6																	57012272		2203	4299	6502	SO:0001583	missense	0			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.1389G>T	6.37:g.57012272G>T	ENSP00000359740:p.Gln463His		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q463H	ENST00000370706.4	37	c.1389	CCDS43477.1	6	.	.	.	.	.	.	.	.	.	.	G	9.531	1.110766	0.20714	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.07114	3.22;3.22;3.22	5.3	3.17	0.36434	.	0.542263	0.19625	N	0.109819	T	0.06554	0.0168	M	0.63428	1.95	0.22888	N	0.99861	D;P;P;P	0.53151	0.958;0.855;0.883;0.855	P;P;B;P	0.51135	0.66;0.459;0.438;0.459	T	0.14172	-1.0482	10	0.56958	D	0.05	-13.1019	6.7931	0.23711	0.2397:0.1397:0.6205:0.0	.	463;463;463;463	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	H	463	ENSP00000359740:Q463H;ENSP00000350083:Q463H;ENSP00000421645:Q463H	ENSP00000350083:Q463H	Q	+	3	2	ZNF451	57120231	0.873000	0.30073	0.403000	0.26384	0.728000	0.41692	2.748000	0.47483	1.231000	0.43661	-0.145000	0.13849	CAG	ZNF451	-	NULL	ENSG00000112200		0.378	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	HGNC	protein_coding	OTTHUMT00000041035.2		0	107	0	G	NM_015555		57012272	1			no_errors	ENST00000370706	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.038	T	T	57012272	G	T	57012272	3	4	126	1	0	0	0	0	1	0	0	0	17970	933	33	3	1427	3	ZNF451	6	57012272	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	25375040	57012272	114102795	113	32531											
SLC35A1	10559	genome.wustl.edu	37	chr6	88221148	88221148	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctgggtactcttcttgtAtgtgtttccatatatctcta	6	18	7	10	0	3	0	0	0	3	0	5	0	4	0	2	1	1	3	2	1	5	8			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr6:88221148A>T	ENST00000369552.4	+	8	945	c.918A>T	c.(916-918)gtA>gtT	p.V306V	SLC35A1_ENST00000369557.5_3'UTR|SLC35A1_ENST00000369556.3_Silent_p.V247V|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000544441.1_Silent_p.V172V	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	306					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCTTCTTGTATGTGTTTCCA	0.358																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)												0													109	99	102					6																	88221148		2203	4300	6503	SO:0001819	synonymous_variant	0			D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"Solute carriers"	11021	protein-coding gene	gene with protein product		605634	"solute carrier family 35 (UDP-galactose transporter), member 1"			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.918A>T	6.37:g.88221148A>T			Q5W1L8	Silent	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.V306	ENST00000369552.4	37	c.918	CCDS5010.1	6																																																																																			SLC35A1	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	ENSG00000164414		0.358	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A1	HGNC	protein_coding	OTTHUMT00000041446.1	-	0	99	0	A			88221148	1	tier1	-	no_errors	ENST00000369552	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.994	T	T	88221148	A	T	88221148	2	4	126	1	0	0	0	0	0	0	0	1	14615	436	16	5		5	SLC35A1	6	88221148	Silent	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	31208876	88221148	82893919	114	32532											
KIAA0776	23376	genome.wustl.edu	37	chr6	97001214	97001214	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggttgtaaagcagctagtCagtcaaagtaagaagactgg	14	10	12	5	0	2	2	2	0	0	2	2	2	2	2	0	2	2	5	0	2	6	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr6:97001214C>G	ENST00000369278.4	+	19	2286	c.2220C>G	c.(2218-2220)gtC>gtG	p.V740V		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	740					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AGCAGCTAGTCAGTCAAAGTA	0.368																																																	0													111	102	105					6																	97001214		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.2220C>G	6.37:g.97001214C>G			A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	pfam_E3_UFM1_ligase_1	p.V740	ENST00000369278.4	37	c.2220	CCDS5034.1	6																																																																																			UFL1	-	NULL	ENSG00000014123		0.368	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	-	0	69	0	C	NM_015323		97001214	1	tier1	-	no_errors	ENST00000369278	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.107	G	G	97001214	C	G	97001214	2	3	126	1	0	0	0	0	0	0	0	1	8220	813	29	5		5	KIAA0776	6	97001214	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	8780066	97001214	74113853	115	32533											
FAM184A	79632	genome.wustl.edu	37	chr6	119345270	119345270	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcttgtccctgaaattCttttctaagatcagcttcct	7	18	5	11	0	4	2	1	1	3	1	6	2	6	2	2	0	2	2	2	0	2	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr6:119345270C>A	ENST00000338891.7	-	2	1311	c.868G>T	c.(868-870)Gaa>Taa	p.E290*	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.E170*|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.E170*|FAM184A_ENST00000522284.1_Nonsense_Mutation_p.E170*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.E290*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	290						extracellular space (GO:0005615)		p.E290K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CCCTGAAATTCTTTTCTAAGA	0.378																																																	1	Substitution - Missense(1)	skin(1)											104	98	100					6																	119345270		1816	4072	5888	SO:0001587	stop_gained	0			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.868G>T	6.37:g.119345270C>A	ENSP00000342604:p.Glu290*		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.E290*	ENST00000338891.7	37	c.868	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842582	0.91197	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	.	.	.	5.04	5.04	0.67666	.	0.051515	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-16.1661	18.7409	0.91773	0.0:1.0:0.0:0.0	.	.	.	.	X	290;170;170;290;170	.	ENSP00000342604:E290X	E	-	1	0	FAM184A	119386969	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.189000	0.77747	2.506000	0.84524	0.460000	0.39030	GAA	FAM184A	-	NULL	ENSG00000111879		0.378	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3		0	70	0	C	NM_024581		119345270	-1			no_errors	ENST00000338891	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	A	A	119345270	C	A	119345270	4	1	126	1	0	0	0	0	0	1	0	0	5530	922	32	3	2622	3	FAM184A	6	119345270	Nonsense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	22344056	119345270	51769797	116	32534											
UTRN	7402	genome.wustl.edu	37	chr6	144780469	144780469	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagaggctgtagaggatCgtcaacaacatctagagaat	16	8	10	7	1	2	3	1	0	1	3	3	5	2	4	0	2	3	2	0	2	7	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr6:144780469C>A	ENST00000367545.3	+	20	2686	c.2686C>A	c.(2686-2688)Cgt>Agt	p.R896S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	896	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)	p.R896C(1)		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)		TGTAGAGGATCGTCAACAACA	0.463																																																	1	Substitution - Missense(1)	skin(1)											71	70	70					6																	144780469		2203	4300	6503	SO:0001583	missense	0			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.2686C>A	6.37:g.144780469C>A	ENSP00000356515:p.Arg896Ser		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.R896S	ENST00000367545.3	37	c.2686	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	6.745	0.506268	0.12883	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.50277	0.75	5.44	1.02	0.19986	.	0.953527	0.08666	N	0.911614	T	0.12178	0.0296	N	0.24115	0.695	0.09310	N	1	B	0.26195	0.144	B	0.19148	0.024	T	0.25293	-1.0136	10	0.33940	T	0.23	.	5.6451	0.17584	0.1296:0.4228:0.0:0.4475	.	896	P46939	UTRO_HUMAN	S	896	ENSP00000356515:R896S	ENSP00000356499:R896S	R	+	1	0	UTRN	144822162	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.059000	0.11731	0.364000	0.24374	0.650000	0.86243	CGT	UTRN	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.463	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1		0	73	0	C			144780469	1			no_errors	ENST00000367545	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	A	A	144780469	C	A	144780469	3	1	126	1	0	0	0	0	1	0	0	0	17152	884	31	2	2764	2	UTRN	6	144780469	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	25435199	144780469	26334598	117	32535											
SHPRH	257218	genome.wustl.edu	37	chr6	146266723	146266723	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaaaggatggacactcCtttttttccattcatttctt	9	17	7	8	0	2	0	1	0	1	0	4	4	4	3	2	3	0	0	2	3	1	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr6:146266723C>A	ENST00000367505.2	-	8	1636	c.1372G>T	c.(1372-1374)Gga>Tga	p.G458*	SHPRH_ENST00000275233.7_Nonsense_Mutation_p.G458*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.G458*|SHPRH_ENST00000367503.3_Nonsense_Mutation_p.G458*			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	458	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATGGACACTCCTTTTTTTCCA	0.328																																																	0													65	59	60					6																	146266723		1836	4099	5935	SO:0001587	stop_gained	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1372G>T	6.37:g.146266723C>A	ENSP00000356475:p.Gly458*		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.G458*	ENST00000367505.2	37	c.1372	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	C	40	8.280802	0.98740	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.1209	19.4495	0.94861	0.0:1.0:0.0:0.0	.	.	.	.	X	458;458;458;458;347	.	ENSP00000275233:G458X	G	-	1	0	SHPRH	146308416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.996000	0.76263	2.608000	0.88229	0.585000	0.79938	GGA	SHPRH	-	pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15	ENSG00000146414		0.328	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2		0	65	0	C	NM_173082		146266723	-1			no_errors	ENST00000367503	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	A	A	146266723	C	A	146266723	4	1	126	1	0	0	0	0	0	1	0	0	14336	690	24	3	3815	3	SHPRH	6	146266723	Nonsense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	1486254	146266723	24848344	118	32536											
MTHFD1L	25902	genome.wustl.edu	37	chr6	151293122	151293122	+	Missense_Mutation	SNP	A	A	G	1	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	atgcgggcccttttgctaacAttgctcacggcaactcttca	8	12	8	13	2	3	0	2	0	1	0	3	0	3	0	1	2	5	3	1	2	2	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr6:151293122A>G	ENST00000367321.3	+	20	2327	c.2053A>G	c.(2053-2055)Att>Gtt	p.I685V	MTHFD1L_ENST00000478643.1_3'UTR	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	685	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)		TTTTGCTAACATTGCTCACGG	0.408																																																	0													135	125	129					6																	151293122		2203	4300	6503	SO:0001583	missense	0			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.2053A>G	6.37:g.151293122A>G	ENSP00000356290:p.Ile685Val		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.I685V	ENST00000367321.3	37	c.2053	CCDS5228.1	6	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307657	0.81247	.	.	ENSG00000120254	ENST00000367321	T	0.35789	1.29	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.997;0.999;0.996	T	0.75986	-0.3124	10	0.62326	D	0.03	.	15.4063	0.74881	1.0:0.0:0.0:0.0	.	686;440;685	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	V	685	ENSP00000356290:I685V	ENSP00000356290:I685V	I	+	1	0	MTHFD1L	151334815	1.000000	0.71417	0.950000	0.38849	0.727000	0.41649	8.904000	0.92590	2.279000	0.76181	0.533000	0.62120	ATT	MTHFD1L	-	pfam_Formate_THF_ligase,superfamily_P-loop_NTPase	ENSG00000120254		0.408	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	-	0	109	0	A	NM_015440		151293122	1	tier1	-	no_errors	ENST00000367321	ensembl	human	known	74_37	missense	21.05	30	8	SNP	1.000	G	G	151293122	A	G	151293122	3	3	126	1	0	0	0	0	1	0	0	0	9966	217	8	4	2131	4	MTHFD1L	6	151293122	Missense_Mutation	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	5026399	151293122	19821945	119	32537											
AKAP12	9590	genome.wustl.edu	37	chr6	151672917	151672917	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagtcacagagagcataGagtccagtgagcttgtaacc	13	8	10	10	0	2	3	2	1	0	2	3	4	3	3	2	0	3	3	2	0	3	3	rs142987485		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr6:151672917G>T	ENST00000253332.1	+	3	3580	c.3391G>T	c.(3391-3393)Gag>Tag	p.E1131*	AKAP12_ENST00000402676.2_Nonsense_Mutation_p.E1131*|AKAP12_ENST00000359755.5_Nonsense_Mutation_p.E1026*|AKAP12_ENST00000354675.6_Nonsense_Mutation_p.E1033*			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1131					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)		AGAGAGCATAGAGTCCAGTGA	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)												0													58	58	58					6																	151672917		2203	4300	6503	SO:0001587	stop_gained	0			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.3391G>T	6.37:g.151672917G>T	ENSP00000253332:p.Glu1131*		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Nonsense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.E1131*	ENST00000253332.1	37	c.3391	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	G	38	6.898957	0.97920	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	.	.	.	5.19	2.21	0.28008	.	0.388400	0.18933	N	0.127147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	11.3654	0.49668	0.0715:0.488:0.4404:0.0	.	.	.	.	X	1131;1131;1033;1026	.	ENSP00000253332:E1131X	E	+	1	0	AKAP12	151714610	0.003000	0.15002	0.001000	0.08648	0.029000	0.11900	0.960000	0.29253	0.539000	0.28788	0.455000	0.32223	GAG	AKAP12	-	NULL	ENSG00000131016		0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1		0	67	0	G			151672917	1			no_errors	ENST00000253332	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.000	T	T	151672917	G	T	151672917	4	4	126	1	0	0	0	0	0	1	0	0	448	943	33	3	3430	3	AKAP12	6	151672917	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	379795	151672917	19442150	120	32538											
TNRC18	84629	genome.wustl.edu	37	chr7	5430248	5430248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtacagcccactgggcaGgtgggagaagcctgtaacag	10	6	16	9	0	0	1	0	0	0	1	0	2	0	1	2	4	4	3	2	4	3	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:5430248G>T	ENST00000430969.1	-	4	703	c.355C>A	c.(355-357)Ctg>Atg	p.L119M	TNRC18_ENST00000399537.4_Missense_Mutation_p.L119M|TNRC18_ENST00000399434.2_Missense_Mutation_p.L45M	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	119							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)		CCACTGGGCAGGTGGGAGAAG	0.577																																																	0													13	17	16					7																	5430248		1846	4094	5940	SO:0001583	missense	0			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.355C>A	7.37:g.5430248G>T	ENSP00000395538:p.Leu119Met		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.L119M	ENST00000430969.1	37	c.355	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955774	0.34471	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000434361;ENST00000399434	T;T	0.19669	2.13;2.13	4.34	3.42	0.39159	.	.	.	.	.	T	0.15825	0.0381	L	0.34521	1.04	0.31542	N	0.659768	P;P	0.46912	0.886;0.459	B;B	0.37888	0.26;0.094	T	0.08229	-1.0732	9	0.59425	D	0.04	.	11.6402	0.51228	0.0:0.0:0.8056:0.1944	.	45;119	A8MTZ4;O15417	.;TNC18_HUMAN	M	119;119;45;45	ENSP00000382452:L119M;ENSP00000395538:L119M	ENSP00000382364:L45M	L	-	1	2	TNRC18	5396774	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.335000	0.43929	0.874000	0.35823	0.491000	0.48974	CTG	TNRC18	-	NULL	ENSG00000182095		0.577	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding			0	152	0	G			5430248	-1			no_errors	ENST00000399537	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	5430248	G	T	5430248	3	4	126	1	0	0	0	0	1	0	0	0	16386	991	35	3	8659	3	TNRC18	7	5430248	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		5430248	153708415	121	32539											
SEPT14	346288	genome.wustl.edu	37	chr7	55902220	55902220	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcattatcttattcttaaaCgtctgtaaatcatttttaga	12	19	3	7	1	5	1	2	0	3	1	5	1	5	1	0	0	1	1	0	0	7	8			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:55902220C>A	ENST00000388975.3	-	6	734	c.618G>T	c.(616-618)acG>acT	p.T206T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	206	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.T206T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATTCTTAAACGTCTGTAAAT	0.348																																																	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)											106	98	101					7																	55902220		2203	4300	6503	SO:0001819	synonymous_variant	0			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.618G>T	7.37:g.55902220C>A			A6NCC2|B4DXD6	Silent	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.T206	ENST00000388975.3	37	c.618	CCDS5519.2	7																																																																																			SEPT14	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000154997		0.348	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2		0	87	0	C	NM_207366		55902220	-1			no_errors	ENST00000388975	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.993	A	A	55902220	C	A	55902220	2	1	126	1	0	0	0	0	0	0	0	1	14108	523	19	2		2	SEPT14	7	55902220	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	50471972	55902220	103236443	122	32540											
ZNF273	10793	genome.wustl.edu	37	chr7	64388069	64388069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaagacctttggccaaaGcagggcttaaaagattcttt	12	10	9	10	0	1	2	0	0	1	2	1	2	1	2	3	2	1	2	3	2	4	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:64388069G>A	ENST00000476120.1	+	4	434	c.363G>A	c.(361-363)aaG>aaA	p.K121K	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Silent_p.K56K	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TTTGGCCAAAGCAGGGCTTAA	0.338																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)												0													59	63	61					7																	64388069		2202	4300	6502	SO:0001819	synonymous_variant	0			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.363G>A	7.37:g.64388069G>A			B3KQZ5|Q6P3V4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K121	ENST00000476120.1	37	c.363	CCDS5528.2	7																																																																																			ZNF273	-	NULL	ENSG00000198039		0.338	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF273	HGNC	protein_coding	OTTHUMT00000313502.1		0	122	0	G			64388069	1			no_errors	ENST00000476120	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.011	A	A	64388069	G	A	64388069	2	1	126	1	0	0	0	0	0	0	0	1	17856	962	34	3		3	ZNF273	7	64388069	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	8485849	64388069	94750594	123	32541											
WBSCR16	81554	genome.wustl.edu	37	chr7	74486515	74486515	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgagtcccatcccccaGactttcgtaacatccgcagt	8	12	7	14	2	0	2	0	1	0	1	4	2	3	2	4	0	1	3	4	0	1	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:74486515G>T	ENST00000329959.4	-	2	448	c.393C>A	c.(391-393)gtC>gtA	p.V131V	WBSCR16_ENST00000543840.1_Silent_p.V131V|WBSCR16_ENST00000503250.2_Silent_p.V131V	NM_030798.3	NP_110425.2	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	131							poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCATCCCCCAGACTTTCGTAA	0.483																																																	0													116	111	113					7																	74486515		2203	4300	6503	SO:0001819	synonymous_variant	0			AF410455	CCDS5577.1, CCDS64683.1, CCDS64684.1	7q11.23	2008-08-14			ENSG00000174374	ENSG00000274523			14948	protein-coding gene	gene with protein product						12073013	Standard	NM_030798		Approved		uc003ubr.3	Q96I51	OTTHUMG00000130373	ENST00000329959.4:c.393C>A	7.37:g.74486515G>T			D3DXK0|F5GX55|F5H6C7|Q548B1|Q8IW88|Q8N572|Q9H0G7	Silent	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.V131	ENST00000329959.4	37	c.393	CCDS5577.1	7																																																																																			WBSCR16	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000174374		0.483	WBSCR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR16	HGNC	protein_coding	OTTHUMT00000252740.1	-	0	96	0	G	NM_030798		74486515	-1	tier1	-	no_errors	ENST00000329959	ensembl	human	known	74_37	silent	5.68	83	5	SNP	0.861	T	T	74486515	G	T	74486515	2	4	126	1	0	0	0	0	0	0	0	1	17312	929	33	3		3	WBSCR16	7	74486515	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	10098446	74486515	84652148	124	32542											
PCLO	27445	genome.wustl.edu	37	chr7	82579102	82579102	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctgcccggaggtgagatGaataaccaatctctaaaggt	14	9	10	8	1	2	2	0	2	2	1	3	4	2	3	2	3	2	0	2	3	6	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:82579102G>T	ENST00000333891.9	-	6	11139	c.10802C>A	c.(10801-10803)tCa>tAa	p.S3601*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.S321*|PCLO_ENST00000423517.2_Nonsense_Mutation_p.S3601*	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						GAGGTGAGATGAATAACCAAT	0.488																																																	0													125	122	123					7																	82579102		2065	4218	6283	SO:0001587	stop_gained	0			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.10802C>A	7.37:g.82579102G>T	ENSP00000334319:p.Ser3601*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S3601*	ENST00000333891.9	37	c.10802	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.711988	0.96830	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6592	0.95857	0.0:0.0:1.0:0.0	.	.	.	.	X	3532;3601;3601;321	.	ENSP00000334319:S3601X	S	-	2	0	PCLO	82417038	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	5.225000	0.65294	2.651000	0.90000	0.585000	0.79938	TCA	PCLO	-	NULL	ENSG00000186472		0.488	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	57	0	G	NM_014510		82579102	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	nonsense	12.50	28	4	SNP	0.998	T	T	82579102	G	T	82579102	4	4	126	1	0	0	0	0	0	1	0	0	11622	1294	45	3	4723	3	PCLO	7	82579102	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	8092587	82579102	76559561	125	32543											
C7orf63	79846	genome.wustl.edu	37	chr7	89894642	89894642	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttgaaaaagaaagtgtcGgatgaaataacttatgctga	16	13	9	3	1	0	4	0	3	0	1	1	5	0	5	0	1	2	1	0	1	6	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:89894642G>T	ENST00000389297.4	+	5	635	c.384G>T	c.(382-384)tcG>tcT	p.S128S	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Silent_p.S128S|AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000497910.1_Silent_p.S128S	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		128										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGAAAGTGTCGGATGAAATAA	0.323																																																	0													150	146	147					7																	89894642		1818	4088	5906	SO:0001819	synonymous_variant	0																														ENST00000389297.4:c.384G>T	7.37:g.89894642G>T			A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	superfamily_ARM-type_fold	p.S128	ENST00000389297.4	37	c.384	CCDS43613.2	7																																																																																			C7orf63	-	NULL	ENSG00000105792		0.323	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4		0	103	0	G			89894642	1			no_errors	ENST00000389297	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.513	T	T	89894642	G	T	89894642	2	4	126	1	0	0	0	0	0	0	0	1	2416	1103	39	2		2	C7orf63	7	89894642	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	7315540	89894642	69244021	126	32544											
SAMD9L	219285	genome.wustl.edu	37	chr7	92761639	92761639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcattttctttgtggaaaaAgggagtgagctgaagaatct	12	14	11	4	0	3	3	1	2	2	1	3	5	3	5	0	2	1	1	0	2	4	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:92761639A>G	ENST00000318238.4	-	5	4862	c.3646T>C	c.(3646-3648)Ttt>Ctt	p.F1216L	SAMD9L_ENST00000437805.1_Missense_Mutation_p.F1216L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.F1216L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1216					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGTGGAAAAAGGGAGTGAGC	0.378																																																	0													105	100	101					7																	92761639		2203	4299	6502	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3646T>C	7.37:g.92761639A>G	ENSP00000326247:p.Phe1216Leu		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.F1216L	ENST00000318238.4	37	c.3646	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	A	0.131	-1.113678	0.01799	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.20598	2.06;2.06;2.06	4.77	0.449	0.16619	.	0.919380	0.09292	N	0.822145	T	0.06735	0.0172	N	0.02202	-0.64	0.09310	N	0.99999	B	0.02656	0.0	B	0.04013	0.001	T	0.38329	-0.9666	10	0.05721	T	0.95	-0.1325	7.8979	0.29717	0.6565:0.0:0.3435:0.0	.	1216	Q8IVG5	SAM9L_HUMAN	L	1216	ENSP00000326247:F1216L;ENSP00000405760:F1216L;ENSP00000408796:F1216L	ENSP00000326247:F1216L	F	-	1	0	SAMD9L	92599575	0.000000	0.05858	0.218000	0.23776	0.607000	0.37147	0.079000	0.14782	-0.005000	0.14395	0.383000	0.25322	TTT	SAMD9L	-	NULL	ENSG00000177409		0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0	92	0	A	NM_152703		92761639	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.381	G	G	92761639	A	G	92761639	3	3	126	1	0	0	0	0	1	0	0	0	13872	72	3	4	1112	4	SAMD9L	7	92761639	Missense_Mutation	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	2866997	92761639	66377024	127	32545											
CCDC132	55610	genome.wustl.edu	37	chr7	92882065	92882065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttctgtggattcatttGatattgttaaatatgagctg	10	20	8	3	0	2	2	1	2	1	0	2	3	2	3	0	1	1	2	0	1	4	8			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:92882065G>T	ENST00000305866.5	+	3	330	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.D68Y|CCDC132_ENST00000544910.1_Missense_Mutation_p.D38Y	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	68						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)			GGATTCATTTGATATTGTTAA	0.328																																																	0													88	96	94					7																	92882065		2203	4299	6502	SO:0001583	missense	0			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.202G>T	7.37:g.92882065G>T	ENSP00000307666:p.Asp68Tyr		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.D68Y	ENST00000305866.5	37	c.202	CCDS43617.1	7	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572516	0.86542	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	5.42	5.42	0.78866	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	T	0.81123	-0.1076	9	0.87932	D	0	-3.4479	19.5943	0.95527	0.0:0.0:1.0:0.0	.	38;68;68	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	Y	68;68;38;68	.	ENSP00000251739:D68Y	D	+	1	0	CCDC132	92720001	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.879000	0.92398	2.723000	0.93209	0.591000	0.81541	GAT	CCDC132	-	pfam_Vacuolar_sorting-assoc_54	ENSG00000004766		0.328	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1		0	113	0	G	NM_017667		92882065	1			no_errors	ENST00000305866	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	92882065	G	T	92882065	3	4	126	1	0	0	0	0	1	0	0	0	2774	1290	45	3	212	3	CCDC132	7	92882065	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	120426	92882065	66256598	128	32546											
TECPR1	25851	genome.wustl.edu	37	chr7	97867827	97867827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccacgtgcacacctggtcGttcattcccacgttcaccat	8	10	6	17	3	2	0	2	0	0	0	4	0	3	0	4	1	1	3	4	1	0	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:97867827G>A	ENST00000447648.2	-	9	1328	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	TECPR1_ENST00000542604.1_Silent_p.N273N|TECPR1_ENST00000379795.3_Silent_p.N343N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	343					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						ACACCTGGTCGTTCATTCCCA	0.577																																																	0													60	64	62					7																	97867827		2061	4163	6224	SO:0001819	synonymous_variant	0				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.1029C>T	7.37:g.97867827G>A			A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.N343	ENST00000447648.2	37	c.1029	CCDS47648.1	7																																																																																			TECPR1	-	smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.577	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	-	0	69	0	G	NM_015395		97867827	-1	tier1	-	no_errors	ENST00000379795	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.371	A	A	97867827	G	A	97867827	2	1	126	1	0	0	0	0	0	0	0	1	15790	1136	40	1		1	TECPR1	7	97867827	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4985762	97867827	61270836	129	32547											
EPHB4	2050	genome.wustl.edu	37	chr7	100419977	100419977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgttcggcccactggccatCctcacggcagtagaggctgg	6	8	13	14	2	1	1	1	0	0	1	3	1	2	1	3	5	0	4	3	5	1	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:100419977C>A	ENST00000358173.3	-	4	1192	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	EPHB4_ENST00000360620.3_Missense_Mutation_p.D242Y|EPHB4_ENST00000477446.1_5'UTR|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	242	Cys-rich.				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)					CACTGGCCATCCTCACGGCAG	0.692																																					GBM(200;2113 3072 25865 52728)												0													9	10	9					7																	100419977		2170	4237	6407	SO:0001583	missense	0			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.724G>T	7.37:g.100419977C>A	ENSP00000350896:p.Asp242Tyr		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.D242Y	ENST00000358173.3	37	c.724	CCDS5706.1	7	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897937	0.72639	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.76186	-1.0;-0.99	5.62	5.62	0.85841	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.56097	D	0.000031	D	0.86606	0.5973	M	0.78049	2.395	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.861;1.0;1.0;1.0	D;B;D;D;D	0.91635	0.999;0.361;0.999;0.998;0.999	D	0.87817	0.2635	10	0.87932	D	0	.	17.1367	0.86742	0.0:1.0:0.0:0.0	.	242;242;242;242;242	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	Y	242	ENSP00000353833:D242Y;ENSP00000350896:D242Y	ENSP00000350896:D242Y	D	-	1	0	EPHB4	100257913	1.000000	0.71417	0.989000	0.46669	0.330000	0.28571	7.818000	0.86416	2.647000	0.89833	0.561000	0.74099	GAT	EPHB4	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000196411		0.692	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	-	0	58	0	C	NM_004444		100419977	-1	tier1	-	no_errors	ENST00000358173	ensembl	human	known	74_37	missense	27.78	26	10	SNP	1.000	A	A	100419977	C	A	100419977	3	1	126	1	0	0	0	0	1	0	0	0	5193	855	30	3	2295	3	EPHB4	7	100419977	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	2552150	100419977	58718686	130	32548											
DNAJC2	27000	genome.wustl.edu	37	chr7	102957429	102957429	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagcctcagcttcctctttCtcttttctgatttgctcatt	4	19	5	13	1	5	1	2	1	3	0	7	2	6	1	2	0	3	2	2	0	0	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:102957429C>T	ENST00000379263.3	-	13	1525	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	DNAJC2_ENST00000249270.7_Silent_p.E372E|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	425					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTTCCTCTTTCTCTTTTCTGA	0.393																																																	0													127	117	120					7																	102957429		1860	4098	5958	SO:0001819	synonymous_variant	0			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1275G>A	7.37:g.102957429C>T			A4VCI0|Q9BVX1	Silent	SNP	pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain	p.E425	ENST00000379263.3	37	c.1275	CCDS43628.1	7																																																																																			DNAJC2	-	NULL	ENSG00000105821		0.393	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC2	HGNC	protein_coding	OTTHUMT00000347891.1	-	0	55	0	C			102957429	-1	tier1	-	no_errors	ENST00000379263	ensembl	human	known	74_37	silent	19.35	25	6	SNP	1.000	T	T	102957429	C	T	102957429	2	4	126	1	0	0	0	0	0	0	0	1	4653	912	32	3		3	DNAJC2	7	102957429	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	2537452	102957429	56181234	131	32549											
NRCAM	4897	genome.wustl.edu	37	chr7	107872819	107872819	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgcagctccgcgttcgttCcttgctgtacactgatagac	7	12	9	13	3	0	2	0	1	0	1	3	2	2	2	2	0	4	6	2	0	2	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:107872819C>T	ENST00000425651.2	-	4	377	c.378G>A	c.(376-378)agG>agA	p.R126R	NRCAM_ENST00000379022.4_Silent_p.R126R|NRCAM_ENST00000379024.4_Silent_p.R126R|NRCAM_ENST00000413765.2_Silent_p.R126R|NRCAM_ENST00000379028.3_Silent_p.R126R|NRCAM_ENST00000351718.4_Silent_p.R120R	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	126	Ig-like 1.				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						CGCGTTCGTTCCTTGCTGTAC	0.458																																																	0													198	178	185					7																	107872819		2203	4300	6503	SO:0001819	synonymous_variant	0				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.378G>A	7.37:g.107872819C>T			A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R126	ENST00000425651.2	37	c.378	CCDS47686.1	7																																																																																			NRCAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000091129		0.458	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	-	0	62	0	C	NM_001037132		107872819	-1	tier1	-	no_errors	ENST00000379028	ensembl	human	known	74_37	silent	23.68	29	9	SNP	0.981	T	T	107872819	C	T	107872819	2	4	126	1	0	0	0	0	0	0	0	1	10683	854	30	3		3	NRCAM	7	107872819	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	4915390	107872819	51265844	132	32550											
TMEM168	64418	genome.wustl.edu	37	chr7	112424456	112424456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggacataaccagaaattCtctccaccagagagcacaat	16	6	7	12	1	1	2	0	0	1	2	3	5	2	3	3	1	2	1	3	1	3	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:112424456C>A	ENST00000312814.6	-	2	985	c.425G>T	c.(424-426)aGa>aTa	p.R142I	TMEM168_ENST00000454074.1_Missense_Mutation_p.R142I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	142						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ACCAGAAATTCTCTCCACCAG	0.388																																																	0													81	79	80					7																	112424456		2203	4300	6503	SO:0001583	missense	0				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.425G>T	7.37:g.112424456C>A	ENSP00000323068:p.Arg142Ile		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl_sf	p.R142I	ENST00000312814.6	37	c.425	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546875	0.86022	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.78851	-0.2041	9	0.87932	D	0	-26.0427	20.6397	0.99537	0.0:1.0:0.0:0.0	.	142	Q9H0V1	TM168_HUMAN	I	142	.	ENSP00000323068:R142I	R	-	2	0	TMEM168	112211692	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	AGA	TMEM168	-	NULL	ENSG00000146802		0.388	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4		0	75	0	C	NM_022484		112424456	-1			no_errors	ENST00000312814	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	112424456	C	A	112424456	3	1	126	1	0	0	0	0	1	0	0	0	16130	913	32	3	1684	3	TMEM168	7	112424456	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	4551637	112424456	46714207	133	32551											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113518436	113518436	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctctattagtgtctGagttaaaagcagaatgcaca	14	10	11	6	0	2	2	0	1	2	1	2	4	2	3	0	1	3	4	0	1	5	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:113518436G>T	ENST00000284601.3	-	4	2779	c.2711C>A	c.(2710-2712)tCa>tAa	p.S904*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	904					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTAGTGTCTGAGTTAAAAGC	0.378																																																	0													88	86	87					7																	113518436		2203	4299	6502	SO:0001587	stop_gained	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2711C>A	7.37:g.113518436G>T	ENSP00000284601:p.Ser904*		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.S904*	ENST00000284601.3	37	c.2711	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772982	0.90108	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.64	5.64	0.86602	.	0.255425	0.28279	N	0.015935	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.505	14.8792	0.70519	0.0:0.2157:0.7843:0.0	.	.	.	.	X	904	.	ENSP00000284601:S904X	S	-	2	0	PPP1R3A	113305672	0.983000	0.35010	0.999000	0.59377	0.406000	0.30931	1.324000	0.33712	2.646000	0.89796	0.603000	0.83216	TCA	PPP1R3A	-	NULL	ENSG00000154415		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1		0	34	0	G	NM_002711		113518436	-1			no_errors	ENST00000284601	ensembl	human	known	74_37	nonsense	10.53	17	2	SNP	0.961	T	T	113518436	G	T	113518436	4	4	126	1	0	0	0	0	0	1	0	0	12413	1294	45	3	661	3	PPP1R3A	7	113518436	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	1093980	113518436	45620227	134	32552											
FOXP2	93986	genome.wustl.edu	37	chr7	114269985	114269985	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcaacaacaacaacaAcagcagcaacaacagcagca	21	0	6	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	6	0	0	7	0	rs368614280		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:114269985A>G	ENST00000393494.2	+	5	801	c.522A>G	c.(520-522)caA>caG	p.Q174Q	FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000408937.3_Silent_p.Q199Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q154Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000393500.3_Silent_p.Q99Q|FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q			O15409	FOXP2_HUMAN	forkhead box P2	174	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q199Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacaacaacaacagcagcaac	0.502																																																	1	Substitution - coding silent(1)	endometrium(1)						G	,,,,,	0,4398		0,0,2199	39	36	37		522,597,522,597,522,573	-1.2	1	7		37	1,8583		0,1,4291	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FOXP2	NM_001172766.2,NM_001172767.2,NM_014491.3,NM_148898.3,NM_148899.3,NM_148900.3	,,,,,	0,1,6490	GG,GA,AA		0.0116,0.0,0.0077	,,,,,	174/715,199/458,174/716,199/741,174/433,191/733	114269985	1,12981	2199	4292	6491	SO:0001819	synonymous_variant	0			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.522A>G	7.37:g.114269985A>G			A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q199	ENST00000393494.2	37	c.597	CCDS5760.1	7																																																																																			FOXP2	-	NULL	ENSG00000128573		0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	FOXP2	HGNC	protein_coding	OTTHUMT00000317366.1		0	45	0	A	NM_014491		114269985	1			no_errors	ENST00000408937	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.894	G	G	114269985	A	G	114269985	2	3	126	1	0	0	0	0	0	0	0	1	6051	40	2	4		4	FOXP2	7	114269985	Silent	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	751549	114269985	44868678	135	32553											
CNOT4	4850	genome.wustl.edu	37	chr7	135047903	135047903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggattgtcatcttgaaGagagtctaaactgtttcctg	10	14	11	6	0	3	2	1	1	2	1	4	5	4	4	1	2	1	1	1	2	3	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:135047903G>T	ENST00000451834.1	-	12	2150	c.1867C>A	c.(1867-1869)Ctt>Att	p.L623I	CNOT4_ENST00000361528.4_Missense_Mutation_p.L552I|CNOT4_ENST00000423368.2_Missense_Mutation_p.L555I|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000541284.1_Missense_Mutation_p.L626I			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					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						TCATCTTGAAGAGAGTCTAAA	0.493																																					Ovarian(51;766 1130 5502 35047 50875)												0													132	135	134					7																	135047903		1949	4154	6103	SO:0001583	missense	0			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	ENST00000451834.1:c.1867C>A	7.37:g.135047903G>T	ENSP00000388491:p.Leu623Ile		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom	p.L626I	ENST00000451834.1	37	c.1876	CCDS55167.1	7	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388747	0.61956	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528	T;T;T;T	0.61158	0.69;0.68;0.14;0.13	5.85	4.95	0.65309	.	0.054798	0.85682	N	0.000000	T	0.64046	0.2563	L	0.29908	0.895	0.80722	D	1	P;P;D;D	0.56035	0.456;0.592;0.974;0.974	B;B;D;D	0.70487	0.093;0.191;0.953;0.969	T	0.60026	-0.7343	10	0.22109	T	0.4	-5.0716	15.9223	0.79586	0.0:0.0:0.8599:0.1401	.	623;626;555;552	E7ET38;F8VQP3;O95628-4;O95628-8	.;.;.;.	I	626;623;555;626;552	ENSP00000445508:L626I;ENSP00000388491:L623I;ENSP00000406777:L555I;ENSP00000354673:L552I	ENSP00000262563:L626I	L	-	1	0	CNOT4	134698443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.358000	0.73055	1.414000	0.47017	0.557000	0.71058	CTT	CNOT4	-	NULL	ENSG00000080802		0.493	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CNOT4	HGNC	protein_coding	OTTHUMT00000340670.1	-	0	47	0	G	NM_013316		135047903	-1	tier1	-	no_errors	ENST00000541284	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	T	T	135047903	G	T	135047903	3	4	126	1	0	0	0	0	1	0	0	0	3628	942	33	3	269	3	CNOT4	7	135047903	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	20777918	135047903	24090760	136	32554											
KIAA1549	57670	genome.wustl.edu	37	chr7	138522658	138522658	+	Missense_Mutation	SNP	T	T	C	0	1	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	gaggcgaggccgatcagctgTggaagttctgcacggtgctc	7	8	16	10	3	2	0	1	0	1	0	3	4	2	1	1	4	3	4	1	4	1	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:138522658T>C	ENST00000422774.1	-	20	5894	c.5846A>G	c.(5845-5847)cAc>cGc	p.H1949R	TMEM213_ENST00000413208.1_Missense_Mutation_p.W67R|KIAA1549_ENST00000440172.1_Missense_Mutation_p.H1933R|KIAA1549_ENST00000242365.4_Missense_Mutation_p.H1883R			Q9HCM3	K1549_HUMAN	KIAA1549	1949						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CGATCAGCTGTGGAAGTTCTG	0.562			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													45	47	46					7																	138522658		1960	4150	6110	SO:0001583	missense	0				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.5846A>G	7.37:g.138522658T>C	ENSP00000416040:p.His1949Arg		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.H1949R	ENST00000422774.1	37	c.5846	CCDS56513.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.203214|4.203214	0.79127|0.79127	.|.	.|.	ENSG00000122778|ENSG00000214128	ENST00000440172;ENST00000242365;ENST00000422774|ENST00000413208	T;T;T|.	0.53857|.	0.6;0.63;0.78|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.049735|.	0.85682|.	D|.	0.000000|.	T|T	0.59918|0.59918	0.2229|0.2229	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.996;1.0;0.996|.	D;D;D;D|.	0.91635|.	0.997;0.99;0.999;0.99|.	T|T	0.64097|0.64097	-0.6487|-0.6487	10|6	0.66056|0.87932	D|D	0.02|0	.|.	14.8635|14.8635	0.70399|0.70399	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1949;733;1933;717|.	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3|.	K1549_HUMAN;.;.;.|.	R|R	1933;1883;1949|67	ENSP00000406661:H1933R;ENSP00000242365:H1883R;ENSP00000416040:H1949R|.	ENSP00000242365:H1883R|ENSP00000401570:W67R	H|W	-|+	2|1	0|0	KIAA1549|TMEM213	138173198|138173198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.807000|0.807000	0.45602|0.45602	4.395000|4.395000	0.59678|0.59678	2.093000|2.093000	0.63338|0.63338	0.533000|0.533000	0.62120|0.62120	CAC|TGG	KIAA1549	-	NULL	ENSG00000122778		0.562	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1		0	54	0	T			138522658	-1			no_errors	ENST00000422774	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	C	C	138522658	T	C	138522658	3	2	126	1	0	0	0	0	1	0	0	0	8271	1696	59	4	10	4	KIAA1549	7	138522658	Missense_Mutation	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09	3474755	138522658	20616005	137	32555											
CLCN1	1180	genome.wustl.edu	37	chr7	143027934	143027934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctactggagaggattctttgCagccacgttcagcgcctttg	7	12	11	11	2	2	1	1	0	1	1	2	3	2	2	2	2	4	2	2	2	1	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:143027934C>T	ENST00000343257.2	+	8	1010	c.923C>T	c.(922-924)gCa>gTa	p.A308V	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	308					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)					GGATTCTTTGCAGCCACGTTC	0.532																																																	0													158	130	139					7																	143027934		2203	4300	6503	SO:0001583	missense	0			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.923C>T	7.37:g.143027934C>T	ENSP00000339867:p.Ala308Val		A4D2H5|Q2M202	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.A308V	ENST00000343257.2	37	c.923	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.275550	0.95459	.	.	ENSG00000188037	ENST00000343257	D	0.95788	-3.81	4.57	4.57	0.56435	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97905	1.0305	10	0.87932	D	0	.	17.355	0.87333	0.0:1.0:0.0:0.0	.	308	P35523	CLCN1_HUMAN	V	308	ENSP00000339867:A308V	ENSP00000339867:A308V	A	+	2	0	CLCN1	142738056	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.789000	0.85783	2.087000	0.62958	0.453000	0.30009	GCA	CLCN1	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000188037		0.532	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	-	0	77	0	C	NM_000083		143027934	1	tier1	-	no_errors	ENST00000343257	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	143027934	C	T	143027934	3	4	126	1	0	0	0	0	1	0	0	0	3469	710	25	3	953	3	CLCN1	7	143027934	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	4505276	143027934	16110729	138	32556											
SSPO	23145	genome.wustl.edu	37	chr7	149474349	149474349	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaggctcagctaatgcCtcagcaggaagcctggagga	11	5	14	11	0	2	0	2	0	0	0	2	3	2	3	2	5	4	4	2	5	2	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:149474349C>A	ENST00000378016.2	+	0	393							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)			CAGCTAATGCCTCAGCAGGAA	0.662																																																	0													11	14	13					7																	149474349		1981	4120	6101			0			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.149474349C>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.662	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript			0	62	0	C			149474349	1			no_errors	ENST00000262089	ensembl	human	known	74_37	rna	9.52	38	4	SNP	0.462	A	A	149474349	C	A	149474349	1	1	126	0	1	0	0	0	0	0	0	0	15236	668	24	3		3	SSPO	7	149474349	RNA	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	6446415	149474349	9664314	139	32557											
ATG9B	285973	genome.wustl.edu	37	chr7	150715097	150715097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagaaaagcagaaacagcGgggtgaggagcggggacagg	15	1	18	7	2	0	3	0	1	0	2	0	5	0	5	1	6	4	1	1	6	3	0	rs374715533		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr7:150715097G>T	ENST00000377974.2	-	8	1988	c.1913C>A	c.(1912-1914)cCg>cAg	p.P638Q	ATG9B_ENST00000605938.1_Missense_Mutation_p.P638Q|ATG9B_ENST00000444312.1_Missense_Mutation_p.P124Q|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	638					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAAACAGCGGGGTGAGGAG	0.612											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													39	47	44					7																	150715097		2034	4166	6200	SO:0001583	missense	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.1913C>A	7.37:g.150715097G>T	ENSP00000475005:p.Pro638Gln	1734	A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_9	p.P638Q	ENST00000377974.2	37	c.1913		7	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157963	0.38119	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	.	.	.	.	.	.	D	0.89917	1.0	D	0.97110	1.0	T	0.83164	-0.0097	7	0.87932	D	0	.	15.8391	0.78831	0.0:0.0:1.0:0.0	.	638	Q674R7	ATG9B_HUMAN	Q	638;124;638	.	ENSP00000444232:P638Q	P	-	2	0	AC010973.1	150346030	1.000000	0.71417	0.910000	0.35882	0.371000	0.29859	9.541000	0.98083	2.586000	0.87340	0.563000	0.77884	CCG	ATG9B	-	pfam_Autophagy-rel_prot_9	ENSG00000181652		0.612	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	ATG9B	HGNC	protein_coding		-	0	136	0	G	NM_173681		150715097	-1	tier1	-	no_errors	ENST00000377974	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.999	T	T	150715097	G	T	150715097	3	4	126	1	0	0	0	0	1	0	0	0	1104	1116	39	2	884	2	ATG9B	7	150715097	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	1240748	150715097	8423566	140	32558											
FDFT1	2222	genome.wustl.edu	37	chr8	11666396	11666396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggcgctggatggggaaAtgcggtgagtgatggaggca	9	7	19	6	2	0	2	0	2	0	0	1	5	1	5	1	7	1	2	1	7	1	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr8:11666396A>G	ENST00000220584.4	+	2	415	c.193A>G	c.(193-195)Atg>Gtg	p.M65V	FDFT1_ENST00000443614.2_Missense_Mutation_p.M65V|FDFT1_ENST00000525900.1_Missense_Mutation_p.M58V|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000528812.1_Start_Codon_SNP_p.M1V|FDFT1_ENST00000525777.1_5'Flank|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000530664.1_Start_Codon_SNP_p.M1V|FDFT1_ENST00000528643.1_5'Flank	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	65					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGATGGGGAAATGCGGTGAGT	0.547																																																	0													61	53	55					8																	11666396		2203	4300	6503	SO:0001583	missense	0			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"squalene synthase"	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.193A>G	8.37:g.11666396A>G	ENSP00000220584:p.Met65Val		B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	p.M65V	ENST00000220584.4	37	c.193	CCDS5985.1	8	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852858	0.51270	.	.	ENSG00000079459	ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	4.83	2.33	0.28932	Terpenoid synthase (2);	0.185499	0.49305	D	0.000143	T	0.60483	0.2272	N	0.11427	0.14	0.80722	D	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.11329	0.0;0.006;0.001;0.001	T	0.55496	-0.8132	10	0.62326	D	0.03	-11.4684	6.2273	0.20716	0.4321:0.4319:0.0:0.136	.	65;122;58;65	B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;FDFT_HUMAN	V	65;65;65;58;1;1	ENSP00000431852:M65V;ENSP00000220584:M65V;ENSP00000390367:M65V;ENSP00000434714:M58V;ENSP00000431749:M1V;ENSP00000432331:M1V	ENSP00000220584:M65V	M	+	1	0	FDFT1	11703805	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.570000	0.45981	0.839000	0.34971	0.454000	0.30748	ATG	FDFT1	-	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	ENSG00000079459		0.547	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDFT1	HGNC	protein_coding	OTTHUMT00000207588.2		0	54	0	A			11666396	1			no_errors	ENST00000220584	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	G	G	11666396	A	G	11666396	3	3	126	1	0	0	0	0	1	0	0	0	5824	101	4	4	199	4	FDFT1	8	11666396	Missense_Mutation	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09		11666396	134697626	141	32559											
TEX15	56154	genome.wustl.edu	37	chr8	30700967	30700967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcatttctatgataatcCacagatggtcctgttttcct	10	16	6	9	0	2	3	1	1	1	2	5	3	5	3	3	1	0	1	3	1	2	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr8:30700967C>A	ENST00000256246.2	-	1	5641	c.5567G>T	c.(5566-5568)tGg>tTg	p.W1856L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1856					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)		TATGATAATCCACAGATGGTC	0.343																																																	0													86	90	89					8																	30700967		2203	4300	6503	SO:0001583	missense	0			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.5567G>T	8.37:g.30700967C>A	ENSP00000256246:p.Trp1856Leu			Missense_Mutation	SNP	NULL	p.W1856L	ENST00000256246.2	37	c.5567	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198650	0.58126	.	.	ENSG00000133863	ENST00000256246	T	0.11604	2.76	5.68	5.68	0.88126	.	0.255913	0.28338	N	0.015708	T	0.30885	0.0779	L	0.56769	1.78	0.38323	D	0.943595	D	0.89917	1.0	D	0.75484	0.986	T	0.02026	-1.1227	10	0.87932	D	0	.	16.7085	0.85378	0.0:1.0:0.0:0.0	.	1856	Q9BXT5	TEX15_HUMAN	L	1856	ENSP00000256246:W1856L	ENSP00000256246:W1856L	W	-	2	0	TEX15	30820509	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.544000	0.45761	2.685000	0.91497	0.650000	0.86243	TGG	TEX15	-	NULL	ENSG00000133863		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1		0	34	0	C			30700967	-1			no_errors	ENST00000256246	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A	A	30700967	C	A	30700967	3	1	126	1	0	0	0	0	1	0	0	0	15826	595	21	3	2818	3	TEX15	8	30700967	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	19034571	30700967	115663055	142	32560											
IDO1	3620	genome.wustl.edu	37	chr8	39785379	39785379	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagttcctccaggacatgaGaagatatatgccaccagctc	12	9	8	12	0	1	2	1	1	0	2	4	4	3	3	4	1	2	2	4	1	3	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr8:39785379G>C	ENST00000518237.1	+	10	1526	c.887G>C	c.(886-888)aGa>aCa	p.R296T	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R296T	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	296					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	CAGGACATGAGAAGATATATG	0.488																																																	0													37	35	36					8																	39785379		1967	4173	6140	SO:0001583	missense	0			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.887G>C	8.37:g.39785379G>C	ENSP00000430950:p.Arg296Thr		Q540B4	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.R296T	ENST00000518237.1	37	c.887	CCDS47847.1	8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166091	0.78339	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.53640	0.61;0.61	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	H	0.94503	3.545	0.45979	D	0.998792	D	0.89917	1.0	D	0.97110	1.0	T	0.82717	-0.0319	9	.	.	.	-35.6034	14.4859	0.67616	0.0:0.0:1.0:0.0	.	296	P14902	I23O1_HUMAN	T	296	ENSP00000430505:R296T;ENSP00000430950:R296T	.	R	+	2	0	IDO1	39904536	1.000000	0.71417	0.985000	0.45067	0.769000	0.43574	6.840000	0.75369	2.793000	0.96121	0.563000	0.77884	AGA	IDO1	-	pfam_Indolamine_dOase	ENSG00000131203		0.488	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDO1	HGNC	protein_coding	OTTHUMT00000376987.1	-	0	65	0	G	NM_002164		39785379	1	tier1	-	no_errors	ENST00000518237	ensembl	human	known	74_37	missense	18.75	39	9	SNP	0.997	C	C	39785379	G	C	39785379	3	2	126	1	0	0	0	0	1	0	0	0	7528	942	33	5	925	5	IDO1	8	39785379	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	9084412	39785379	106578643	143	32561											
C8orf34	116328	genome.wustl.edu	37	chr8	69699681	69699681	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgttcttttgcaggatGaatccttaaagcaattgcag	12	14	9	6	0	1	1	0	1	1	0	2	2	2	2	1	1	3	4	1	1	5	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr8:69699681G>T	ENST00000539993.1	+	12	1750	c.1201G>T	c.(1201-1203)Gaa>Taa	p.E401*	C8orf34_ENST00000325233.3_Nonsense_Mutation_p.E145*|C8orf34_ENST00000337103.4_Nonsense_Mutation_p.E376*|C8orf34_ENST00000518698.1_Nonsense_Mutation_p.E487*			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	401								p.E376K(1)		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)			TTTGCAGGATGAATCCTTAAA	0.358																																																	1	Substitution - Missense(1)	skin(1)											106	100	102					8																	69699681		2203	4300	6503	SO:0001587	stop_gained	0			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.1201G>T	8.37:g.69699681G>T	ENSP00000438159:p.Glu401*		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Nonsense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.E487*	ENST00000539993.1	37	c.1459		8	.	.	.	.	.	.	.	.	.	.	G	38	6.685629	0.97759	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	.	.	.	5.36	5.36	0.76844	.	0.528567	0.19765	N	0.106580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.2579	16.3753	0.83383	0.0:0.0:1.0:0.0	.	.	.	.	X	487;401;376;145	.	.	E	+	1	0	C8orf34	69862235	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	4.306000	0.59117	2.657000	0.90304	0.655000	0.94253	GAA	C8orf34	-	NULL	ENSG00000165084		0.358	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding			0	48	0	G	NM_052958		69699681	1			no_errors	ENST00000518698	ensembl	human	known	74_37	nonsense	8.00	23	2	SNP	1.000	T	T	69699681	G	T	69699681	4	4	126	1	0	0	0	0	0	1	0	0	2429	1291	45	3	1168	3	C8orf34	8	69699681	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	29914302	69699681	76664341	144	32562											
ZFHX4	79776	genome.wustl.edu	37	chr8	77767813	77767813	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggcgaccacgaccaaagcTtttacatcacagatgacccg	13	7	8	13	3	1	2	1	1	0	1	1	4	1	2	3	1	2	1	3	1	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr8:77767813T>G	ENST00000521891.2	+	10	9104	c.8656T>G	c.(8656-8658)Ttt>Gtt	p.F2886V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.F2841V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F2841V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.F2860V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2841					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)			CGACCAAAGCTTTTACATCAC	0.517										HNSCC(33;0.089)																																							0													86	86	86					8																	77767813		1995	4164	6159	SO:0001583	missense	0				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.8656T>G	8.37:g.77767813T>G	ENSP00000430497:p.Phe2886Val		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.F2886V	ENST00000521891.2	37	c.8656	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	T	9.186	1.024794	0.19433	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46819	0.86;0.9;0.87;0.86	5.25	5.25	0.73442	.	0.170215	0.27976	U	0.017098	T	0.26085	0.0636	N	0.08118	0	0.28890	N	0.893883	B;B;B	0.14438	0.0;0.0;0.01	B;B;B	0.12837	0.001;0.002;0.008	T	0.12553	-1.0543	10	0.17369	T	0.5	.	11.3361	0.49505	0.0:0.0:0.1517:0.8482	.	2841;2841;2886	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	2886;2870;2841;2841;2860	ENSP00000430497:F2886V;ENSP00000399605:F2841V;ENSP00000050961:F2841V;ENSP00000430848:F2860V	ENSP00000050961:F2841V	F	+	1	0	ZFHX4	77930368	1.000000	0.71417	0.998000	0.56505	0.669000	0.39330	4.511000	0.60462	2.207000	0.71202	0.459000	0.35465	TTT	ZFHX4	-	NULL	ENSG00000091656		0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	26	0	T	NM_024721		77767813	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	57.14	12	16	SNP	1.000	G	G	77767813	T	G	77767813	3	3	126	1	0	0	0	0	1	0	0	0	17683	1609	56	4	8690	4	ZFHX4	8	77767813	Missense_Mutation	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09	8068132	77767813	68596209	145	32563											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110439330	110439330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgagagggaacctgtgctgGctacgcgtggaacatcaaat	12	7	13	9	3	1	1	1	0	0	1	1	4	1	3	1	3	4	2	1	3	4	1	rs367893430		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr8:110439330G>T	ENST00000378402.5	+	25	3049	c.2945G>T	c.(2944-2946)gGc>gTc	p.G982V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	982					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)			ACCTGTGCTGGCTACGCGTGG	0.517										HNSCC(38;0.096)																																							0								G	VAL/GLY	0,3886		0,0,1943	68	71	70		2945	4.6	0.8	8		70	1,8319		0,1,4159	no	missense	PKHD1L1	NM_177531.4	109	0,1,6102	TT,TG,GG		0.012,0.0,0.0082	benign	982/4244	110439330	1,12205	1943	4160	6103	SO:0001583	missense	0			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.2945G>T	8.37:g.110439330G>T	ENSP00000367655:p.Gly982Val		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.G982V	ENST00000378402.5	37	c.2945	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645910	0.29246	0.0	1.2E-4	ENSG00000205038	ENST00000378402	D	0.87887	-2.31	5.45	4.55	0.56014	.	0.465045	0.18859	N	0.129186	D	0.91294	0.7255	M	0.66939	2.045	0.49798	D	0.999822	D	0.69078	0.997	D	0.63597	0.916	D	0.91035	0.4867	10	0.62326	D	0.03	.	12.0081	0.53272	0.0:0.1743:0.8257:0.0	.	982	Q86WI1	PKHL1_HUMAN	V	982	ENSP00000367655:G982V	ENSP00000367655:G982V	G	+	2	0	PKHD1L1	110508506	0.999000	0.42202	0.835000	0.33067	0.095000	0.18619	3.633000	0.54295	1.237000	0.43756	0.591000	0.81541	GGC	PKHD1L1	-	NULL	ENSG00000205038		0.517	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	73	0	G	NM_177531		110439330	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.938	T	T	110439330	G	T	110439330	3	4	126	1	0	0	0	0	1	0	0	0	12011	1203	42	3	3043	3	PKHD1L1	8	110439330	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	32671517	110439330	35924692	146	32564											
WDR67	93594	genome.wustl.edu	37	chr8	124094947	124094947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgatctcttaataggttcaAtcttgttcagcgaacagcac	12	13	7	9	1	4	1	2	1	2	0	5	2	4	1	0	1	3	3	0	1	4	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr8:124094947A>G	ENST00000287380.1	+	3	320	c.230A>G	c.(229-231)aAt>aGt	p.N77S	TBC1D31_ENST00000521676.1_Intron|TBC1D31_ENST00000327098.5_Missense_Mutation_p.N77S|TBC1D31_ENST00000309336.3_Missense_Mutation_p.N77S|TBC1D31_ENST00000378080.2_Intron|TBC1D31_ENST00000522420.1_Intron	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	77						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										AATAGGTTCAATCTTGTTCAG	0.373																																																	0													99	91	94					8																	124094947		2203	4300	6503	SO:0001583	missense	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.230A>G	8.37:g.124094947A>G	ENSP00000287380:p.Asn77Ser		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.N77S	ENST00000287380.1	37	c.230	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	A	2.835	-0.241815	0.05906	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522276	T;T;T;T	0.69806	-0.14;1.64;1.64;-0.43	5.7	3.38	0.38709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.333575	0.36234	N	0.002701	T	0.28234	0.0697	N	0.00268	-1.735	0.80722	D	1	B;B;B	0.15141	0.004;0.012;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.16600	-1.0397	10	0.12103	T	0.63	-31.4325	13.754	0.62926	0.7159:0.2841:0.0:0.0	.	77;77;77	B7ZL19;Q96DN5;Q3KRB0	.;WDR67_HUMAN;.	S	77;77;77;67	ENSP00000287380:N77S;ENSP00000308358:N77S;ENSP00000312701:N77S;ENSP00000428891:N67S	ENSP00000287380:N77S	N	+	2	0	WDR67	124164128	0.431000	0.25546	1.000000	0.80357	0.934000	0.57294	0.392000	0.20801	0.962000	0.38057	0.482000	0.46254	AAT	TBC1D31	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000156787		0.373	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	HGNC	protein_coding	OTTHUMT00000381721.1	-	0	59	0	A	NM_145647		124094947	1	tier1	-	no_errors	ENST00000287380	ensembl	human	known	74_37	missense	21.88	50	14	SNP	0.980	G	G	124094947	A	G	124094947	3	3	126	1	0	0	0	0	1	0	0	0	17367	101	4	4	240	4	WDR67	8	124094947	Missense_Mutation	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	13655617	124094947	22269075	147	32565											
FER1L6	654463	genome.wustl.edu	37	chr8	125115512	125115512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattccagcaaaaacgtgtgCgtggctggtggcctttttct	7	14	11	9	2	1	0	0	0	1	0	2	0	2	0	2	3	3	2	2	3	3	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr8:125115512C>A	ENST00000522917.1	+	39	5457	c.5251C>A	c.(5251-5253)Cgt>Agt	p.R1751S	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1751S|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1751						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)			AAAACGTGTGCGTGGCTGGTG	0.483																																																	0													141	137	139					8																	125115512		1926	4151	6077	SO:0001583	missense	0			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.5251C>A	8.37:g.125115512C>A	ENSP00000428280:p.Arg1751Ser			Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.R1751S	ENST00000522917.1	37	c.5251	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937692	0.73557	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81996	-1.56;-1.56	5.58	3.5	0.40072	.	0.056479	0.64402	U	0.000002	D	0.90679	0.7076	M	0.83223	2.63	0.45035	D	0.998057	D	0.89917	1.0	D	0.77557	0.99	D	0.92007	0.5615	10	0.72032	D	0.01	-19.1959	13.5565	0.61761	0.3859:0.6141:0.0:0.0	.	1751	Q2WGJ9	FR1L6_HUMAN	S	1751	ENSP00000428280:R1751S;ENSP00000381982:R1751S	ENSP00000381982:R1751S	R	+	1	0	FER1L6	125184693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.088000	0.50175	1.475000	0.48197	0.655000	0.94253	CGT	FER1L6	-	NULL	ENSG00000214814		0.483	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1		0	67	0	C	NM_001039112		125115512	1			no_errors	ENST00000399018	ensembl	human	known	74_37	missense	7.02	52	4	SNP	0.999	A	A	125115512	C	A	125115512	3	1	126	1	0	0	0	0	1	0	0	0	5837	768	27	2	5401	2	FER1L6	8	125115512	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	1020565	125115512	21248510	148	32566											
ZNF623	9831	genome.wustl.edu	37	chr8	144733632	144733632	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaggtctgtagataagggGgaacacacaggtaacttata	15	8	13	5	0	1	2	0	0	1	2	1	4	1	3	0	4	2	2	0	4	6	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr8:144733632G>T	ENST00000501748.2	+	1	1679	c.1590G>T	c.(1588-1590)ggG>ggT	p.G530G	ZNF623_ENST00000526926.1_Silent_p.G490G|ZNF623_ENST00000458270.2_Silent_p.G490G	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	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)	p.G530G(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TAGATAAGGGGGAACACACAG	0.413																																																	1	Substitution - coding silent(1)	large_intestine(1)											65	68	67					8																	144733632		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1590G>T	8.37:g.144733632G>T			A4FU80|B4DGP3|E7ENV5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G530	ENST00000501748.2	37	c.1590	CCDS34957.1	8																																																																																			ZNF623	-	NULL	ENSG00000183309		0.413	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF623	HGNC	protein_coding	OTTHUMT00000382522.3		0	83	0	G	NM_014789		144733632	1			no_errors	ENST00000501748	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.001	T	T	144733632	G	T	144733632	2	4	126	1	0	0	0	0	0	0	0	1	18095	1219	43	3		3	ZNF623	8	144733632	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	19618120	144733632	1630390	149	32567											
PUF60	22827	genome.wustl.edu	37	chr8	144898893	144898893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtagatgatgacgcggttcaCggccccgaacttgccacact	9	8	11	13	4	1	3	1	2	0	1	1	4	1	3	3	2	2	2	3	2	2	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr8:144898893C>T	ENST00000526683.1	-	12	2032	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000453551.2_Missense_Mutation_p.V450M|PUF60_ENST00000456095.2_Missense_Mutation_p.V464M|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000527197.1_Missense_Mutation_p.V447M|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000524570.1_5'Flank|PUF60_ENST00000349157.6_Missense_Mutation_p.V476M|PUF60_ENST00000313352.7_Missense_Mutation_p.V433M	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	493	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V493M(1)		NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGCGGTTCACGGCCCCGAAC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											250	269	263					8																	144898893		2132	4219	6351	SO:0001583	missense	0			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"RNA binding motif (RRM) containing"	17042	protein-coding gene	gene with protein product	"siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1"	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1477G>A	8.37:g.144898893C>T	ENSP00000434359:p.Val493Met		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	p.V493M	ENST00000526683.1	37	c.1477	CCDS47934.1	8	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522691	0.85600	.	.	ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197	T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0	5.41	5.41	0.78517	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.975	T	0.71391	-0.4607	10	0.87932	D	0	.	18.1632	0.89716	0.0:1.0:0.0:0.0	.	476;493	Q9UHX1-2;Q9UHX1	.;PUF60_HUMAN	M	493;450;433;464;476;447	ENSP00000434359:V493M;ENSP00000402953:V450M;ENSP00000322016:V433M;ENSP00000395417:V464M;ENSP00000322036:V476M;ENSP00000431960:V447M	ENSP00000322016:V433M	V	-	1	0	PUF60	144970881	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	5.393000	0.66279	2.537000	0.85549	0.551000	0.68910	GTG	PUF60	-	smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000179950		0.517	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1		0	59	0	C	NM_014281		144898893	-1			no_errors	ENST00000526683	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	144898893	C	T	144898893	3	4	126	1	0	0	0	0	1	0	0	0	12869	536	19	1	206	1	PUF60	8	144898893	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	165261	144898893	1465129	150	32568											
PLEC	5339	genome.wustl.edu	37	chr8	145004664	145004664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcccgcttggccaggcctGagaggtggcccttgtactcg	4	9	15	13	2	0	1	0	1	0	1	1	2	0	1	4	5	1	2	4	5	1	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr8:145004664G>A	ENST00000322810.4	-	20	2925	c.2756C>T	c.(2755-2757)tCa>tTa	p.S919L	PLEC_ENST00000354589.3_Missense_Mutation_p.S782L|PLEC_ENST00000357649.2_Missense_Mutation_p.S786L|PLEC_ENST00000436759.2_Missense_Mutation_p.S809L|PLEC_ENST00000345136.3_Missense_Mutation_p.S782L|PLEC_ENST00000356346.3_Missense_Mutation_p.S768L|PLEC_ENST00000527096.1_Missense_Mutation_p.S805L|PLEC_ENST00000354958.2_Missense_Mutation_p.S760L|PLEC_ENST00000398774.2_Missense_Mutation_p.S750L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	919	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						GGCCAGGCCTGAGAGGTGGCC	0.697																																																	0													15	20	19					8																	145004664		1968	4130	6098	SO:0001583	missense	0			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.2756C>T	8.37:g.145004664G>A	ENSP00000323856:p.Ser919Leu		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.S919L	ENST00000322810.4	37	c.2756	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	5.098	0.203673	0.09704	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45;-3.45;-3.45;-3.45;-3.45	3.75	0.63	0.17693	.	1.638050	0.04119	U	0.316050	D	0.87474	0.6186	N	0.11255	0.115	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.0;0.001;0.002;0.001;0.001	T	0.77688	-0.2494	10	0.54805	T	0.06	.	6.1877	0.20506	0.2938:0.144:0.5622:0.0	.	809;768;760;919;750;782;786;782	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	782;786;782;750;919;760;768;809;805	ENSP00000344848:S782L;ENSP00000350277:S786L;ENSP00000346602:S782L;ENSP00000381756:S750L;ENSP00000323856:S919L;ENSP00000347044:S760L;ENSP00000348702:S768L;ENSP00000388180:S809L;ENSP00000434583:S805L	ENSP00000323856:S919L	S	-	2	0	PLEC	145076652	0.105000	0.21958	0.020000	0.16555	0.353000	0.29299	1.331000	0.33793	0.287000	0.22375	0.289000	0.19496	TCA	PLEC	-	smart_Spectrin/alpha-actinin	ENSG00000178209		0.697	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	61	0	G	NM_000445		145004664	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	17.39	38	8	SNP	0.017	A	A	145004664	G	A	145004664	3	1	126	1	0	0	0	0	1	0	0	0	12091	1294	45	3	11350	3	PLEC	8	145004664	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	105771	145004664	1359358	151	32569											
IFNA7	3444	genome.wustl.edu	37	chr9	21201640	21201640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagtttgttgaaaaagaGaaggatctcatgatttctgc	13	14	9	5	0	3	3	2	2	2	1	4	5	3	4	0	1	1	2	0	1	4	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr9:21201640G>T	ENST00000239347.3	-	1	564	c.525C>A	c.(523-525)ttC>ttA	p.F175L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	175					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)		TTGAAAAAGAGAAGGATCTCA	0.378																																																	0													220	226	224					9																	21201640		2203	4300	6503	SO:0001583	missense	0				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.525C>A	9.37:g.21201640G>T	ENSP00000239347:p.Phe175Leu		Q14607|Q5VV14	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.F175L	ENST00000239347.3	37	c.525	CCDS34995.1	9	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.371904	0.01214	.	.	ENSG00000214042	ENST00000239347	T	0.03772	3.81	3.71	0.642	0.17765	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.509670	0.20302	N	0.095013	T	0.02342	0.0072	N	0.17872	0.535	0.09310	N	1	B	0.11235	0.004	B	0.18871	0.023	T	0.47971	-0.9075	10	0.02654	T	1	.	5.0109	0.14312	0.1983:0.1802:0.6215:0.0	.	175	P01567	IFNA7_HUMAN	L	175	ENSP00000239347:F175L	ENSP00000239347:F175L	F	-	3	2	IFNA7	21191640	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.081000	0.11321	-0.093000	0.12396	0.586000	0.80456	TTC	IFNA7	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta	ENSG00000214042		0.378	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA7	HGNC	protein_coding	OTTHUMT00000051891.1	-	0	152	0	G	NM_021057		21201640	-1	tier1	-	no_errors	ENST00000239347	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.001	T	T	21201640	G	T	21201640	3	4	126	1	0	0	0	0	1	0	0	0	7569	933	33	3	48	3	IFNA7	9	21201640	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		21201640	120011791	152	32570											
GNAQ	2776	genome.wustl.edu	37	chr9	80430560	80430560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtcagataattgatattCtcgtcgtctatcatagcatt	12	15	7	7	2	4	3	2	1	2	2	6	3	4	3	0	0	1	1	0	0	4	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr9:80430560C>T	ENST00000286548.4	-	3	670	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	150					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						AATTGATATTCTCGTCGTCTA	0.373			Mis		uveal melanoma																																			Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	0													121	110	114					9																	80430560		2203	4300	6503	SO:0001583	missense	0				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.448G>A	9.37:g.80430560C>T	ENSP00000286548:p.Glu150Lys		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha	p.E150K	ENST00000286548.4	37	c.448	CCDS6658.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.959947	0.97145	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	D;D	0.87729	-2.29;-2.29	6.01	6.01	0.97437	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.93510	0.7929	M	0.82923	2.615	0.80722	D	1	P	0.51449	0.945	P	0.58266	0.836	D	0.93449	0.6800	10	0.87932	D	0	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	150	P50148	GNAQ_HUMAN	K	150;121	ENSP00000286548:E150K;ENSP00000391501:E121K	ENSP00000286548:E150K	E	-	1	0	GNAQ	79620380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.861000	0.98227	0.650000	0.86243	GAA	GNAQ	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su	ENSG00000156052		0.373	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAQ	HGNC	protein_coding	OTTHUMT00000052761.1	-	0	89	0	C	NM_002072		80430560	-1	tier1	-	no_errors	ENST00000286548	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	T	T	80430560	C	T	80430560	3	4	126	1	0	0	0	0	1	0	0	0	6535	922	32	3	651	3	GNAQ	9	80430560	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	59228920	80430560	60782871	153	32571											
COL27A1	85301	genome.wustl.edu	37	chr9	116994111	116994111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcttgcagggactgatgGgcagcgtgggggagcccgga	6	8	19	8	2	1	1	0	1	1	0	1	4	1	4	1	5	3	2	1	5	0	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr9:116994111G>T	ENST00000356083.3	+	16	2921	c.2530G>T	c.(2530-2532)Ggc>Tgc	p.G844C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	844	Collagen-like 4.|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						GGGACTGATGGGCAGCGTGGG	0.582																																																	0													243	221	228					9																	116994111		2203	4300	6503	SO:0001583	missense	0			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.2530G>T	9.37:g.116994111G>T	ENSP00000348385:p.Gly844Cys		Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G844C	ENST00000356083.3	37	c.2530	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690560	0.48097	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99369	-5.78	5.07	5.07	0.68467	.	.	.	.	.	D	0.99697	0.9885	H	0.99312	4.51	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.97207	0.9868	9	0.87932	D	0	.	14.302	0.66359	0.0:0.0:1.0:0.0	.	844	Q8IZC6	CORA1_HUMAN	C	844	ENSP00000348385:G844C	ENSP00000348385:G844C	G	+	1	0	COL27A1	116033932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.309000	0.78937	2.514000	0.84764	0.563000	0.77884	GGC	COL27A1	-	pfam_Collagen	ENSG00000196739		0.582	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	-	0	108	0	G	NM_032888		116994111	1	tier1	-	no_errors	ENST00000356083	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	116994111	G	T	116994111	3	4	126	1	0	0	0	0	1	0	0	0	3692	1232	43	3	2592	3	COL27A1	9	116994111	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	36563551	116994111	24219320	154	32572											
GPR21	2844	genome.wustl.edu	37	chr9	125796992	125796992	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctggcaacatcattgtGatttttgtatttcactgtgc	8	19	7	7	0	3	1	2	1	1	0	3	1	3	1	0	1	2	2	0	1	2	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr9:125796992G>T	ENST00000373642.1	+	1	187	c.147G>T	c.(145-147)gtG>gtT	p.V49V	RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	49					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						ACATCATTGTGATTTTTGTAT	0.363																																																	0													212	184	193					9																	125796992		2203	4300	6503	SO:0001819	synonymous_variant	0			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.147G>T	9.37:g.125796992G>T			B2R8W9|Q6NXU2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V49	ENST00000373642.1	37	c.147	CCDS6849.1	9																																																																																			GPR21	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188394		0.363	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR21	HGNC	protein_coding	OTTHUMT00000053965.1	-	0	50	0	G	NM_005294		125796992	1	tier1	-	no_errors	ENST00000373642	ensembl	human	known	74_37	silent	12.50	21	3	SNP	1.000	T	T	125796992	G	T	125796992	2	4	126	1	0	0	0	0	0	0	0	1	6707	1277	45	3		3	GPR21	9	125796992	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	8802881	125796992	15416439	155	32573											
SET	6418	genome.wustl.edu	37	chr9	131446208	131446208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccagtctccactcccgcctCaaaagaagaaaccaagacca	15	4	6	16	1	2	3	1	0	1	3	4	3	3	3	6	0	1	0	6	0	5	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr9:131446208C>G	ENST00000372692.4	+	1	275	c.34C>G	c.(34-36)Caa>Gaa	p.Q12E	SET_ENST00000409104.3_5'Flank	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	12					DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		ACTCCCGCCTCAAAAGAAGAA	0.582			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0													22	23	23					9																	131446208		1550	3529	5079	SO:0001583	missense	0			M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"protein phosphatase type 2A inhibitor", "Template-Activating Factor-I, chromatin remodelling factor"	600960	"SET translocation (myeloid leukemia-associated)"			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.34C>G	9.37:g.131446208C>G	ENSP00000361777:p.Gln12Glu		A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP	pfam_NAP_family	p.Q12E	ENST00000372692.4	37	c.34	CCDS48037.1	9	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457922	0.43634	.	.	ENSG00000119335	ENST00000454747;ENST00000372692	T	0.30182	1.54	3.9	3.9	0.45041	.	0.349609	0.22080	N	0.064910	T	0.18257	0.0438	N	0.24115	0.695	0.49389	D	0.999784	B	0.06786	0.001	B	0.09377	0.004	T	0.04767	-1.0928	10	0.10636	T	0.68	.	11.6983	0.51556	0.0:1.0:0.0:0.0	.	12	Q01105	SET_HUMAN	E	12	ENSP00000361777:Q12E	ENSP00000361777:Q12E	Q	+	1	0	SET	130486029	0.018000	0.18449	0.021000	0.16686	0.050000	0.14768	2.957000	0.49137	2.465000	0.83290	0.591000	0.81541	CAA	SET	-	NULL	ENSG00000119335		0.582	SET-001	KNOWN	basic|CCDS	protein_coding	SET	HGNC	protein_coding	OTTHUMT00000054476.2	-	0	84	0	C	NM_001122821		131446208	1	tier1	-	no_errors	ENST00000372692	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.024	G	G	131446208	C	G	131446208	3	3	126	1	0	0	0	0	1	0	0	0	14173	827	29	5	36	5	SET	9	131446208	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	5649216	131446208	9767223	156	32574											
SEC16A	9919	genome.wustl.edu	37	chr9	139369032	139369032	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagcgaggctgtcagaatgGgacgggttgtacacgtttac	10	9	15	7	3	1	1	1	0	0	1	1	4	1	2	0	3	3	4	0	3	4	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr9:139369032G>T	ENST00000371706.3	-	1	2535	c.2502C>A	c.(2500-2502)tcC>tcA	p.S834S	SEC16A_ENST00000431893.2_Silent_p.S834S|SEC16A_ENST00000313050.7_Silent_p.S1012S|SEC16A_ENST00000290037.6_Silent_p.S834S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	834					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)		TGTCAGAATGGGACGGGTTGT	0.498																																																	0													25	26	26					9																	139369032		1938	4138	6076	SO:0001819	synonymous_variant	0			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.2502C>A	9.37:g.139369032G>T			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.S1012	ENST00000371706.3	37	c.3036		9																																																																																			SEC16A	-	NULL	ENSG00000148396		0.498	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	-	0	95	0	G	XM_088459		139369032	-1	tier1	-	no_errors	ENST00000313050	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.001	T	T	139369032	G	T	139369032	2	4	126	1	0	0	0	0	0	0	0	1	14031	1219	43	3		3	SEC16A	9	139369032	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	7922824	139369032	1844399	157	32575											
EPC1	80314	genome.wustl.edu	37	chr10	32575675	32575675	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatacacctttggggtacGgtgagagtagttaagcagta	12	10	12	7	1	0	1	0	1	0	1	0	2	0	1	2	3	3	5	2	3	6	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr10:32575675G>T	ENST00000263062.8	-	9	1607	c.1338C>A	c.(1336-1338)acC>acA	p.T446T	EPC1_ENST00000375110.2_Silent_p.T396T|EPC1_ENST00000319778.6_Silent_p.T446T	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	446					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)				TTTGGGGTACGGTGAGAGTAG	0.463																																																	0													119	100	107					10																	32575675		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1338C>A	10.37:g.32575675G>T			B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Silent	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.T446	ENST00000263062.8	37	c.1338	CCDS7172.1	10																																																																																			EPC1	-	NULL	ENSG00000120616		0.463	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	-	0	92	0	G			32575675	-1	tier1	-	no_errors	ENST00000263062	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.726	T	T	32575675	G	T	32575675	2	4	126	1	0	0	0	0	0	0	0	1	5176	1103	39	2		2	EPC1	10	32575675	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		32575675	102959072	158	32576											
ANXA7	310	genome.wustl.edu	37	chr10	75147469	75147469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccataggaggtcttaaatGctgctttaattttttgcctc	8	17	8	8	0	1	0	0	0	1	0	2	1	1	1	2	2	4	2	2	2	4	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr10:75147469G>T	ENST00000372921.5	-	7	667	c.611C>A	c.(610-612)gCa>gAa	p.A204E	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Missense_Mutation_p.A74E	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	226					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)					GGTCTTAAATGCTGCTTTAAT	0.433																																																	0													225	213	217					10																	75147469		2203	4300	6503	SO:0001583	missense	0			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.611C>A	10.37:g.75147469G>T	ENSP00000362012:p.Ala204Glu		Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVII,prints_AnnexinIV	p.A226E	ENST00000372921.5	37	c.677	CCDS7325.1	10	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496760	0.64186	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.03301	3.98;3.98;3.98	5.96	5.06	0.68205	Annexin repeat, conserved site (1);	0.073510	0.56097	D	0.000029	T	0.05181	0.0138	L	0.41632	1.29	0.58432	D	0.999997	B;B;B;B;B	0.30193	0.107;0.183;0.223;0.152;0.272	B;B;B;B;B	0.34346	0.111;0.111;0.12;0.067;0.18	T	0.47471	-0.9115	10	0.33940	T	0.23	.	13.1697	0.59591	0.0771:0.0:0.9229:0.0	.	204;204;131;204;226	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	E	204;226;74	ENSP00000362012:A204E;ENSP00000362010:A226E;ENSP00000442864:A74E	ENSP00000362010:A226E	A	-	2	0	ANXA7	74817475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.631000	0.61304	1.532000	0.49169	0.650000	0.86243	GCA	ANXA7	-	pfam_Annexin_repeat,smart_Annexin_repeat,prints_AnnexinIV	ENSG00000138279		0.433	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA7	HGNC	protein_coding	OTTHUMT00000048646.2		0	68	0	G	NM_001156		75147469	-1			no_errors	ENST00000372919	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	75147469	G	T	75147469	3	4	126	1	0	0	0	0	1	0	0	0	723	1319	46	3	817	3	ANXA7	10	75147469	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	42571794	75147469	60387278	159	32577											
ZMIZ1	57178	genome.wustl.edu	37	chr10	81072411	81072411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttccagctccttcccgaaCtcacaaatcctgacgagctc	9	11	5	16	2	1	1	1	1	0	0	6	3	5	1	4	0	3	2	4	0	2	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr10:81072411C>G	ENST00000334512.5	+	25	3681	c.3109C>G	c.(3109-3111)Ctc>Gtc	p.L1037V	ZMIZ1_ENST00000446377.2_Missense_Mutation_p.L103V	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1037					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTTCCCGAACTCACAAATCC	0.572																																																	0													200	184	189					10																	81072411		2203	4300	6503	SO:0001583	missense	0			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3109C>G	10.37:g.81072411C>G	ENSP00000334474:p.Leu1037Val		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.L1037V	ENST00000334512.5	37	c.3109	CCDS7357.1	10	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703694	0.88924	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347;ENST00000446377	T	0.34072	1.38	5.16	5.16	0.70880	.	0.000000	0.37623	N	0.002019	T	0.52191	0.1719	L	0.43152	1.355	0.37216	D	0.905023	D;D	0.69078	0.974;0.997	D;D	0.85130	0.953;0.997	T	0.46555	-0.9183	10	0.19147	T	0.46	-26.0769	19.0003	0.92830	0.0:1.0:0.0:0.0	.	103;1037	B4DSG4;Q9ULJ6	.;ZMIZ1_HUMAN	V	1037;967;938;103	ENSP00000334474:L1037V	ENSP00000334474:L1037V	L	+	1	0	ZMIZ1	80742417	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.419000	0.80179	2.559000	0.86315	0.491000	0.48974	CTC	ZMIZ1	-	NULL	ENSG00000108175		0.572	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	-	0	121	0	C	NM_020338		81072411	1	tier1	-	no_errors	ENST00000334512	ensembl	human	known	74_37	missense	44.07	33	26	SNP	1.000	G	G	81072411	C	G	81072411	3	3	126	1	0	0	0	0	1	0	0	0	17744	565	20	5	3191	5	ZMIZ1	10	81072411	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	5924942	81072411	54462336	160	32578											
SFTPA1	653509	genome.wustl.edu	37	chr10	81372184	81372184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctggcgagaggggccctCcaggtgagcagggtggggca	7	4	20	10	1	0	2	0	1	0	1	1	3	1	2	3	7	2	2	3	7	0	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr10:81372184C>A	ENST00000398636.3	+	4	427	c.289C>A	c.(289-291)Cca>Aca	p.P97T	SFTPA1_ENST00000419470.2_Missense_Mutation_p.P112T|SFTPA1_ENST00000428376.2_Missense_Mutation_p.P97T|SFTPA1_ENST00000372313.5_Missense_Mutation_p.P38T|SFTPA1_ENST00000372308.3_Missense_Mutation_p.P97T	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	97	Collagen-like.				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)			GAGGGGCCCTCCAGGTGAGCA	0.607																																																	0													82	93	89					10																	81372184		2203	4296	6499	SO:0001583	missense	0			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.289C>A	10.37:g.81372184C>A	ENSP00000381633:p.Pro97Thr		A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P112T	ENST00000398636.3	37	c.334	CCDS44445.1	10	.	.	.	.	.	.	.	.	.	.	.	11.85	1.760194	0.31137	.	.	ENSG00000122852	ENST00000372308;ENST00000398636;ENST00000428376;ENST00000372313;ENST00000419470;ENST00000394569;ENST00000429958;ENST00000439264	D;D;D;D;D;D;D	0.90900	-2.56;-2.51;-2.51;-2.75;-2.51;-2.75;-2.75	2.73	2.73	0.32206	.	0.000000	0.64402	D	0.000018	D	0.87418	0.6172	M	0.78223	2.4	0.31958	N	0.608837	P;B	0.35793	0.521;0.437	B;B	0.31191	0.067;0.125	D	0.87228	0.2258	10	0.37606	T	0.19	-3.9562	9.1161	0.36758	0.0:1.0:0.0:0.0	.	112;97	G5E9J3;Q8IWL2	.;SFTA1_HUMAN	T	97;97;97;38;112;97;97;97	ENSP00000361382:P97T;ENSP00000381633:P97T;ENSP00000411102:P97T;ENSP00000361387:P38T;ENSP00000397082:P112T;ENSP00000395527:P97T;ENSP00000401649:P97T	ENSP00000361382:P97T	P	+	1	0	SFTPA1	81042190	0.996000	0.38824	0.983000	0.44433	0.928000	0.56348	1.577000	0.36515	1.840000	0.53500	0.448000	0.29417	CCA	SFTPA1	-	NULL	ENSG00000122852		0.607	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFTPA1	HGNC	protein_coding		-	0	77	0	C	NM_005411		81372184	1	tier1	-	no_errors	ENST00000419470	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.986	A	A	81372184	C	A	81372184	3	1	126	1	0	0	0	0	1	0	0	0	14234	855	30	3	344	3	SFTPA1	10	81372184	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	299773	81372184	54162563	161	32579											
IDE	3416	genome.wustl.edu	37	chr10	94274767	94274767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttacatcaatgccttcttGgtttggtctagtctccagag	7	16	8	10	0	5	1	1	0	4	1	6	1	5	1	2	2	2	1	2	2	3	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr10:94274767G>T	ENST00000265986.6	-	5	750	c.694C>A	c.(694-696)Caa>Aaa	p.Q232K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	232					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)"	ATGCCTTCTTGGTTTGGTCTA	0.358																																																	0													180	187	185					10																	94274767		2203	4300	6503	SO:0001583	missense	0			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.694C>A	10.37:g.94274767G>T	ENSP00000265986:p.Gln232Lys		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.Q232K	ENST00000265986.6	37	c.694	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	G	8.040	0.763753	0.15914	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T	0.27720	1.65	6.06	5.1	0.69264	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.234051	0.41823	D	0.000809	T	0.15912	0.0383	N	0.11364	0.135	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06570	-1.0819	10	0.06757	T	0.87	-15.9461	15.3707	0.74560	0.0:0.0:0.7604:0.2396	.	232	P14735	IDE_HUMAN	K	232;218	ENSP00000265986:Q232K	ENSP00000265986:Q232K	Q	-	1	0	IDE	94264747	0.983000	0.35010	1.000000	0.80357	0.997000	0.91878	0.623000	0.24447	2.882000	0.98803	0.655000	0.94253	CAA	IDE	-	superfamily_Metalloenz_LuxS/M16	ENSG00000119912		0.358	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	-	0	102	0	G	NM_004969		94274767	-1	tier1	-	no_errors	ENST00000265986	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	94274767	G	T	94274767	3	4	126	1	0	0	0	0	1	0	0	0	7520	1357	47	3	2449	3	IDE	10	94274767	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	12902583	94274767	41259980	162	32580											
PLCE1	51196	genome.wustl.edu	37	chr10	96022423	96022423	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggtgggcatacttcagctCaacgatttcctcgtgaattg	8	12	12	9	2	2	1	2	1	0	0	4	2	3	1	1	3	3	2	1	3	3	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr10:96022423C>G	ENST00000371380.3	+	13	4222	c.3987C>G	c.(3985-3987)ctC>ctG	p.L1329L	PLCE1_ENST00000371385.3_Silent_p.L1021L|PLCE1_ENST00000260766.3_Silent_p.L1329L|PLCE1_ENST00000371375.1_Silent_p.L1021L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1329					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)				TACTTCAGCTCAACGATTTCC	0.478																																																	0													195	191	193					10																	96022423		2008	4184	6192	SO:0001819	synonymous_variant	0				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.3987C>G	10.37:g.96022423C>G			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.L1329	ENST00000371380.3	37	c.3987	CCDS41552.1	10																																																																																			PLCE1	-	pfam_PLipase_C_EF-hand-like	ENSG00000138193		0.478	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0	67	0	C	NM_016341		96022423	1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	silent	20.34	46	12	SNP	1.000	G	G	96022423	C	G	96022423	2	3	126	1	0	0	0	0	0	0	0	1	12073	813	29	5		5	PLCE1	10	96022423	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	1747656	96022423	39512324	163	32581											
CNNM2	54805	genome.wustl.edu	37	chr10	104835858	104835858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtgaaaataagtcccCtcctcgcccatgtggcttga	9	10	9	13	1	0	2	0	2	0	0	4	2	3	2	5	2	0	1	5	2	3	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr10:104835858C>G	ENST00000369878.4	+	7	2437	c.2249C>G	c.(2248-2250)cCt>cGt	p.P750R	CNNM2_ENST00000475511.1_3'UTR|CNNM2_ENST00000433628.2_Missense_Mutation_p.P728R	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	750					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)		AATAAGTCCCCTCCTCGCCCA	0.438																																																	0													47	47	47					10																	104835858		1934	4155	6089	SO:0001583	missense	0			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.2249C>G	10.37:g.104835858C>G	ENSP00000358894:p.Pro750Arg		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.P750R	ENST00000369878.4	37	c.2249	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845492	0.91197	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	T;T	0.32515	1.78;1.45	5.62	5.62	0.85841	.	0.052790	0.85682	D	0.000000	T	0.52789	0.1756	M	0.71036	2.16	0.58432	D	0.999999	P;P	0.52577	0.954;0.923	P;P	0.56916	0.809;0.71	T	0.52653	-0.8547	10	0.59425	D	0.04	.	19.6519	0.95819	0.0:1.0:0.0:0.0	.	728;750	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	R	751;729;750;728	ENSP00000392875:P729R;ENSP00000358894:P750R	ENSP00000286899:P728R	P	+	2	0	CNNM2	104825848	1.000000	0.71417	0.916000	0.36221	0.990000	0.78478	7.814000	0.86154	2.639000	0.89480	0.561000	0.74099	CCT	CNNM2	-	NULL	ENSG00000148842		0.438	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	-	0	130	0	C	NM_017649		104835858	1	tier1	-	no_errors	ENST00000369878	ensembl	human	known	74_37	missense	16.67	50	10	SNP	1.000	G	G	104835858	C	G	104835858	3	3	126	1	0	0	0	0	1	0	0	0	3620	681	24	5	2317	5	CNNM2	10	104835858	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	8813435	104835858	30698889	164	32582											
C10orf137	26098	genome.wustl.edu	37	chr10	127438041	127438041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagatcttcattacagcaagGccgcaaagctgtttcagctg	11	10	9	11	1	3	1	2	0	1	1	3	1	3	1	1	1	4	5	1	1	3	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr10:127438041G>A	ENST00000356792.4	+	22	3416	c.3184G>A	c.(3184-3186)Gcc>Acc	p.A1062T	C10orf137_ENST00000337623.3_Missense_Mutation_p.A1028T|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1062					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTACAGCAAGGCCGCAAAGCT	0.463																																																	0													148	131	136					10																	127438041		2203	4300	6503	SO:0001583	missense	0																														ENST00000356792.4:c.3184G>A	10.37:g.127438041G>A	ENSP00000349244:p.Ala1062Thr		B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	NULL	p.A1062T	ENST00000356792.4	37	c.3184	CCDS55733.1	10	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121976	0.77436	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.80253	0.4589	M	0.73598	2.24	0.80722	D	1	D;P;D	0.71674	0.998;0.934;0.998	D;P;D	0.81914	0.995;0.594;0.995	T	0.81957	-0.0695	9	0.87932	D	0	.	19.5003	0.95091	0.0:0.0:1.0:0.0	.	1062;409;1028	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	T	1062;1028	.	ENSP00000336727:A1028T	A	+	1	0	C10orf137	127428031	1.000000	0.71417	0.935000	0.37517	0.055000	0.15305	9.411000	0.97342	2.594000	0.87642	0.585000	0.79938	GCC	C10orf137	-	NULL	ENSG00000107938		0.463	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	C10orf137	HGNC	protein_coding	OTTHUMT00000388539.1	-	0	62	0	G			127438041	1	tier1	-	no_errors	ENST00000356792	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A	A	127438041	G	A	127438041	3	1	126	1	0	0	0	0	1	0	0	0	1599	1203	42	3	3164	3	C10orf137	10	127438041	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	22602183	127438041	8096706	165	32583											
DOCK1	1793	genome.wustl.edu	37	chr10	129216774	129216774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacggcatcgtggacccagCtgtcatggggggcttcgcaa	8	7	15	11	3	1	0	1	0	0	0	3	2	1	1	1	5	2	4	1	5	2	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr10:129216774C>T	ENST00000280333.6	+	45	4707	c.4598C>T	c.(4597-4599)gCt>gTt	p.A1533V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1533	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)		GTGGACCCAGCTGTCATGGGG	0.592																																																	0													60	71	67					10																	129216774		2203	4300	6503	SO:0001583	missense	0			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.4598C>T	10.37:g.129216774C>T	ENSP00000280333:p.Ala1533Val		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.A1533V	ENST00000280333.6	37	c.4598		10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456519	0.84317	.	.	ENSG00000150760	ENST00000280333	T	0.18174	2.23	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.964;0.977	T	0.64668	-0.6353	10	0.87932	D	0	.	18.0621	0.89380	0.0:1.0:0.0:0.0	.	1533;1599;1533	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	V	1533	ENSP00000280333:A1533V	ENSP00000280333:A1533V	A	+	2	0	DOCK1	129106764	1.000000	0.71417	0.940000	0.37924	0.391000	0.30476	7.604000	0.82830	2.492000	0.84095	0.555000	0.69702	GCT	DOCK1	-	pfam_DOCK_C,superfamily_Cyt_c-like_dom	ENSG00000150760		0.592	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	-	0	77	0	C	NM_001380		129216774	1	tier1	-	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	129216774	C	T	129216774	3	4	126	1	0	0	0	0	1	0	0	0	4698	797	28	3	4776	3	DOCK1	10	129216774	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	1778733	129216774	6317973	166	32584											
LRRC27	80313	genome.wustl.edu	37	chr10	134174993	134174993	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccctctgccacagatctGatagataacaggaaagtacc	14	9	7	11	0	2	3	0	1	2	2	3	4	3	4	3	1	3	1	3	1	4	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr10:134174993G>T	ENST00000368614.3	+	9	1308	c.1203G>T	c.(1201-1203)ctG>ctT	p.L401L	LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368610.3_Silent_p.L339L|LRRC27_ENST00000368612.1_Silent_p.L339L|LRRC27_ENST00000432555.2_Silent_p.L274L|LRRC27_ENST00000368613.4_Silent_p.L401L	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	401										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CCACAGATCTGATAGATAACA	0.418																																																	0													126	128	127					10																	134174993		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1203G>T	10.37:g.134174993G>T			A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L401	ENST00000368614.3	37	c.1203	CCDS31316.1	10																																																																																			LRRC27	-	NULL	ENSG00000148814		0.418	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC27	HGNC	protein_coding	OTTHUMT00000051058.2	-	0	42	0	G	XM_290462		134174993	1	tier1	-	no_errors	ENST00000368613	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.001	T	T	134174993	G	T	134174993	2	4	126	1	0	0	0	0	0	0	0	1	9016	1277	45	3		3	LRRC27	10	134174993	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4958219	134174993	1359754	167	32585											
SYT8	90019	genome.wustl.edu	37	chr11	1857174	1857174	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggatgctcagcaatgggggtGcctgcagctctccctggagt	6	9	15	11	0	2	0	1	0	1	0	3	2	2	2	2	4	5	4	2	4	1	0	rs190754396		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:1857174G>T	ENST00000381968.3	+	4	487	c.359G>T	c.(358-360)tGc>tTc	p.C120F	SYT8_ENST00000535046.1_Missense_Mutation_p.C258F|SYT8_ENST00000341958.3_Missense_Mutation_p.C106F|SYT8_ENST00000483280.1_3'UTR|SYT8_ENST00000436964.2_Missense_Mutation_p.C106F	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	120	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.		C -> R (in dbSNP:rs564271). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.		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)		CAATGGGGGTGCCTGCAGCTC	0.632																																																	0													47	50	49					11																	1857174		2202	4299	6501	SO:0001583	missense	0			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.359G>T	11.37:g.1857174G>T	ENSP00000371394:p.Cys120Phe		A6NFJ4|Q9NSV9	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.C120F	ENST00000381968.3	37	c.359	CCDS7726.2	11	.	.	.	.	.	.	.	.	.	.	g	6.469	0.454703	0.12283	.	.	ENSG00000149043	ENST00000436964;ENST00000535046;ENST00000381968;ENST00000341958	T;T;T;T	0.18174	2.27;2.23;3.19;3.19	3.54	1.32	0.21799	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.09158	0.0226	N	0.14661	0.345	0.09310	N	1	B;B;B	0.28584	0.216;0.001;0.005	B;B;B	0.24701	0.055;0.0;0.0	T	0.28839	-1.0031	9	0.87932	D	0	.	5.5656	0.17168	0.1981:0.1618:0.64:0.0	.	106;120;106	C9JSK3;Q8NBV8;A6NCR4	.;SYT8_HUMAN;.	F	106;258;120;106	ENSP00000414626:C106F;ENSP00000443325:C258F;ENSP00000371394:C120F;ENSP00000343691:C106F	ENSP00000343691:C106F	C	+	2	0	SYT8	1813750	0.002000	0.14202	0.585000	0.28666	0.233000	0.25261	1.297000	0.33400	0.579000	0.29504	0.305000	0.20034	TGC	SYT8	-	superfamily_C2_dom	ENSG00000149043		0.632	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT8	HGNC	protein_coding	OTTHUMT00000025013.4		0	62	0	G			1857174	1			no_errors	ENST00000381968	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.015	T	T	1857174	G	T	1857174	3	4	126	1	0	0	0	0	1	0	0	0	15527	1319	46	3	373	3	SYT8	11	1857174	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		1857174	133149342	168	32586											
OR52D1	390066	genome.wustl.edu	37	chr11	5510628	5510628	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccatgcagtctttcatcTtccatctcatgatgcccagc	7	13	5	16	0	4	1	2	1	3	0	7	1	6	1	4	0	3	1	4	0	0	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:5510628T>C	ENST00000322641.5	+	1	714	c.692T>C	c.(691-693)cTt>cCt	p.L231P	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	231					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.L231H(1)		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)		GTCTTTCATCTTCCATCTCAT	0.488																																																	1	Substitution - Missense(1)	cervix(1)											229	200	210					11																	5510628		2201	4297	6498	SO:0001583	missense	0			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.692T>C	11.37:g.5510628T>C	ENSP00000326232:p.Leu231Pro		B9EGY9|Q6IFI6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L231P	ENST00000322641.5	37	c.692	CCDS31384.1	11	.	.	.	.	.	.	.	.	.	.	T	7.944	0.743334	0.15642	.	.	ENSG00000181609	ENST00000322641	T	0.00169	8.63	5.58	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000026	T	0.00637	0.0021	M	0.88704	2.975	0.20764	N	0.999854	D	0.89917	1.0	D	0.97110	1.0	T	0.24048	-1.0171	10	0.87932	D	0	.	10.7702	0.46319	0.0:0.0744:0.0:0.9256	.	231	Q9H346	O52D1_HUMAN	P	231	ENSP00000326232:L231P	ENSP00000326232:L231P	L	+	2	0	OR52D1	5467204	0.565000	0.26610	0.004000	0.12327	0.003000	0.03518	2.171000	0.42453	1.132000	0.42129	-0.263000	0.10527	CTT	OR52D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181609		0.488	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52D1	HGNC	protein_coding	OTTHUMT00000143372.1		0	63	0	T	NM_001005163		5510628	1			no_errors	ENST00000322641	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.001	C	C	5510628	T	C	5510628	3	2	126	1	0	0	0	0	1	0	0	0	11153	1609	56	4	694	4	OR52D1	11	5510628	Missense_Mutation	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09	3653454	5510628	129495888	169	32587											
NLRP14	338323	genome.wustl.edu	37	chr11	7083694	7083694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagtgaaaattctgtgtGatgctttgagatatccaaac	13	13	10	5	0	1	3	0	3	1	1	2	5	2	4	1	1	2	1	1	1	4	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:7083694G>A	ENST00000299481.4	+	10	3281	c.2935G>A	c.(2935-2937)Gat>Aat	p.D979N		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	979					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)		AATTCTGTGTGATGCTTTGAG	0.413																																																	0													161	150	154					11																	7083694		2201	4296	6497	SO:0001583	missense	0			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.2935G>A	11.37:g.7083694G>A	ENSP00000299481:p.Asp979Asn		Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D979N	ENST00000299481.4	37	c.2935	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314225	0.40996	.	.	ENSG00000158077	ENST00000299481	T	0.38240	1.15	4.84	2.96	0.34315	.	0.543636	0.15275	N	0.270998	T	0.33206	0.0855	L	0.40543	1.245	0.30881	N	0.731457	P	0.40970	0.734	B	0.44315	0.446	T	0.35968	-0.9767	10	0.87932	D	0	.	7.5729	0.27918	0.1956:0.0:0.8044:0.0	.	979	Q86W24	NAL14_HUMAN	N	979	ENSP00000299481:D979N	ENSP00000299481:D979N	D	+	1	0	NLRP14	7040270	1.000000	0.71417	0.434000	0.26772	0.050000	0.14768	4.509000	0.60448	0.757000	0.33036	-0.150000	0.13652	GAT	NLRP14	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000158077		0.413	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	-	0	116	0	G	NM_176822		7083694	1	tier1	-	no_errors	ENST00000299481	ensembl	human	known	74_37	missense	11.86	51	7	SNP	0.973	A	A	7083694	G	A	7083694	3	1	126	1	0	0	0	0	1	0	0	0	10515	1290	45	3	2969	3	NLRP14	11	7083694	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	1573066	7083694	127922822	170	32588											
COPB1	1315	genome.wustl.edu	37	chr11	14486508	14486508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgctactttgacgttagCtttaatatttgcgaagtcat	10	17	8	6	2	1	2	1	2	0	0	1	3	1	2	0	0	4	3	0	0	5	7			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:14486508C>T	ENST00000249923.3	-	18	2659	c.2359G>A	c.(2359-2361)Gct>Act	p.A787T	COPB1_ENST00000439561.2_Missense_Mutation_p.A787T	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	787					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						TTGACGTTAGCTTTAATATTT	0.348																																																	0													108	104	105					11																	14486508		2200	4294	6494	SO:0001583	missense	0			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.2359G>A	11.37:g.14486508C>T	ENSP00000249923:p.Ala787Thr		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.A787T	ENST00000249923.3	37	c.2359	CCDS7815.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.328711	0.95733	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.51574	0.7;0.7	5.68	5.68	0.88126	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70150	0.3191	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66736	-0.5848	10	0.35671	T	0.21	.	19.8595	0.96778	0.0:1.0:0.0:0.0	.	787	P53618	COPB_HUMAN	T	787	ENSP00000249923:A787T;ENSP00000397873:A787T	ENSP00000249923:A787T	A	-	1	0	COPB1	14443084	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.524000	0.81866	2.691000	0.91804	0.650000	0.86243	GCT	COPB1	-	pfam_Coatomer_bsu_C,pirsf_COPB1	ENSG00000129083		0.348	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1	-	0	87	0	C	NM_016451		14486508	-1	tier1	-	no_errors	ENST00000249923	ensembl	human	known	74_37	missense	11.39	70	9	SNP	1.000	T	T	14486508	C	T	14486508	3	4	126	1	0	0	0	0	1	0	0	0	3735	797	28	3	522	3	COPB1	11	14486508	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	7402814	14486508	120520008	171	32589											
LDHAL6A	160287	genome.wustl.edu	37	chr11	18500366	18500366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgaagaggaggcctgcttGcaaaagagtgcagaaacact	14	7	12	8	0	0	4	0	1	0	3	0	5	0	5	1	2	4	3	1	2	4	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:18500366G>T	ENST00000280706.2	+	7	1745	c.948G>T	c.(946-948)ttG>ttT	p.L316F	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.L316F|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	316					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						AGGCCTGCTTGCAAAAGAGTG	0.383																																																	0													154	167	162					11																	18500366		2199	4293	6492	SO:0001583	missense	0			AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.948G>T	11.37:g.18500366G>T	ENSP00000280706:p.Leu316Phe		D3DQY5	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.L316F	ENST00000280706.2	37	c.948	CCDS7841.1	11	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551901	0.27739	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	T;T	0.70164	-0.46;-0.46	4.33	0.276	0.15663	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.125195	0.33631	U	0.004715	T	0.51890	0.1701	L	0.43598	1.365	0.37234	D	0.905835	B	0.16802	0.019	B	0.24974	0.057	T	0.38351	-0.9665	10	0.31617	T	0.26	.	5.8113	0.18467	0.2889:0.1604:0.5507:0.0	.	316	Q6ZMR3	LDH6A_HUMAN	F	316	ENSP00000379516:L316F;ENSP00000280706:L316F	ENSP00000280706:L316F	L	+	3	2	LDHAL6A	18456942	0.978000	0.34361	0.025000	0.17156	0.732000	0.41865	0.113000	0.15499	0.172000	0.19760	0.555000	0.69702	TTG	LDHAL6A	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH	ENSG00000166800		0.383	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LDHAL6A	HGNC	protein_coding	OTTHUMT00000395904.1	-	0	106	0	G	NM_144972		18500366	1	tier1	-	no_errors	ENST00000280706	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.575	T	T	18500366	G	T	18500366	3	4	126	1	0	0	0	0	1	0	0	0	8727	1310	46	3	974	3	LDHAL6A	11	18500366	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4013858	18500366	116506150	172	32590											
MPPED2	744	genome.wustl.edu	37	chr11	30516943	30516943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacattgtcaaagtcctctgGtttcaatttggacacagagg	12	12	9	8	0	3	1	2	0	1	1	4	2	4	2	1	3	1	1	1	3	3	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:30516943G>T	ENST00000358117.5	-	3	558	c.436C>A	c.(436-438)Cca>Aca	p.P146T	MPPED2_ENST00000448418.2_Missense_Mutation_p.P146T	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	146					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.P146T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						AAGTCCTCTGGTTTCAATTTG	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)											150	140	143					11																	30516943		2202	4299	6501	SO:0001583	missense	0			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.436C>A	11.37:g.30516943G>T	ENSP00000350833:p.Pro146Thr		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_PEstase_dom	p.P146T	ENST00000358117.5	37	c.436	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148210	0.57151	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	D;D	0.85411	-1.98;-1.98	5.7	5.7	0.88788	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	N	0.20574	0.59	0.80722	D	1	B;P	0.36222	0.034;0.544	B;B	0.42738	0.111;0.396	T	0.75028	-0.3462	10	0.09843	T	0.71	-6.3859	19.8478	0.96722	0.0:0.0:1.0:0.0	.	146;146	Q15777;E9PB10	MPPD2_HUMAN;.	T	146	ENSP00000388258:P146T;ENSP00000350833:P146T	ENSP00000350833:P146T	P	-	1	0	MPPED2	30473519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.698000	0.92095	0.655000	0.94253	CCA	MPPED2	-	pfam_PEstase_dom	ENSG00000066382		0.428	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2		0	112	0	G	NM_001584		30516943	-1			no_errors	ENST00000358117	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	30516943	G	T	30516943	3	4	126	1	0	0	0	0	1	0	0	0	9780	1261	44	3	536	3	MPPED2	11	30516943	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	12016577	30516943	104489573	173	32591											
RAG1	5896	genome.wustl.edu	37	chr11	36596307	36596307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagctgcagtcagtacCacaagatgtacaggactgtg	11	9	10	11	0	2	1	2	0	0	1	3	2	3	2	2	1	4	4	2	1	3	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:36596307C>A	ENST00000299440.5	+	2	1565	c.1453C>A	c.(1453-1455)Cac>Aac	p.H485N		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	485					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAGTCAGTACCACAAGATGTA	0.537									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												0													93	82	86					11																	36596307		2202	4298	6500	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1453C>A	11.37:g.36596307C>A	ENSP00000299440:p.His485Asn		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.H485N	ENST00000299440.5	37	c.1453	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842893	0.71488	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.72615	-0.67;-0.66	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	M	0.81682	2.555	0.80722	D	1	P	0.51933	0.949	D	0.63381	0.914	D	0.86203	0.1620	10	0.87932	D	0	.	19.6271	0.95682	0.0:1.0:0.0:0.0	.	485	P15918	RAG1_HUMAN	N	485	ENSP00000434610:H485N;ENSP00000299440:H485N	ENSP00000299440:H485N	H	+	1	0	RAG1	36552883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.649000	0.89929	0.650000	0.86243	CAC	RAG1	-	NULL	ENSG00000166349		0.537	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	-	0	36	0	C	NM_000448		36596307	1	tier1	-	no_errors	ENST00000299440	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A	A	36596307	C	A	36596307	3	1	126	1	0	0	0	0	1	0	0	0	13048	594	21	3	1455	3	RAG1	11	36596307	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	6079364	36596307	98410209	174	32592											
OR4A16	81327	genome.wustl.edu	37	chr11	55111057	55111057	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgtggctatctctaagccGctgcactatttgaacatcat	10	14	7	10	1	2	1	1	1	1	0	3	1	2	1	1	1	3	3	1	1	5	5	rs76791457	byFrequency	TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:55111057G>T	ENST00000314721.2	+	1	431	c.381G>T	c.(379-381)ccG>ccT	p.P127P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P127P(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCTCTAAGCCGCTGCACTATT	0.468																																																	1	Substitution - coding silent(1)	lung(1)											182	166	171					11																	55111057		2201	4296	6497	SO:0001819	synonymous_variant	0			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.381G>T	11.37:g.55111057G>T			Q6IFL3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P127	ENST00000314721.2	37	c.381	CCDS31499.1	11																																																																																			OR4A16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181961		0.468	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1		0	71	0	G	NM_001005274		55111057	1			no_errors	ENST00000314721	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.998	T	T	55111057	G	T	55111057	2	4	126	1	0	0	0	0	0	0	0	1	11080	1074	38	2		2	OR4A16	11	55111057	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	18514750	55111057	79895459	175	32593											
OR5M9	390162	genome.wustl.edu	37	chr11	56230677	56230677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggagaagcacacgtcCgcaaaagacagatgactcag	15	5	12	9	2	1	4	1	1	0	3	2	6	2	5	1	2	1	2	1	2	3	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:56230677C>T	ENST00000279791.1	-	1	200	c.201G>A	c.(199-201)gcG>gcA	p.A67A		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)					AGCACACGTCCGCAAAAGACA	0.428																																																	0													83	84	84					11																	56230677		2201	4296	6497	SO:0001819	synonymous_variant	0			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.201G>A	11.37:g.56230677C>T			Q6IEW5|Q96RB9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A67	ENST00000279791.1	37	c.201	CCDS31531.1	11																																																																																			OR5M9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000150269		0.428	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M9	HGNC	protein_coding	OTTHUMT00000391638.1	-	0	41	0	C	NM_001004743		56230677	-1	tier1	-	no_errors	ENST00000279791	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.001	T	T	56230677	C	T	56230677	2	4	126	1	0	0	0	0	0	0	0	1	11216	639	23	1		1	OR5M9	11	56230677	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	1119620	56230677	78775839	176	32594											
SLC22A24	283238	genome.wustl.edu	37	chr11	62910850	62910850	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttacatggggcctcttatCtcagtcacgatggtggagag	9	12	12	8	1	3	1	2	0	2	1	4	3	3	1	1	4	1	0	1	4	2	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:62910850C>G	ENST00000417740.1	-	1	843	c.402G>C	c.(400-402)gaG>gaC	p.E134D	SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Splice_Site_p.E134D	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	134					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						GGCCTCTTATCTCAGTCACGA	0.448																																																	0													35	34	35					11																	62910850		692	1591	2283	SO:0001630	splice_region_variant	0				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.402+1G>C	11.37:g.62910850C>G				Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E134D	ENST00000417740.1	37	c.402		11	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860818	0.32884	.	.	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	T;T	0.57273	0.41;0.41	2.29	2.29	0.28610	.	0.862971	0.09770	U	0.758110	T	0.69522	0.3120	M	0.83483	2.645	0.80722	D	1	P	0.50156	0.932	P	0.58520	0.84	T	0.69124	-0.5228	9	.	.	.	.	10.3962	0.44203	0.0:1.0:0.0:0.0	.	134	C9JC66	.	D	134	ENSP00000396586:E134D;ENSP00000321549:E134D	.	E	-	3	2	SLC22A24	62667426	0.997000	0.39634	0.356000	0.25785	0.076000	0.17211	0.711000	0.25764	1.314000	0.45095	0.383000	0.25322	GAG	SLC22A24	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000197658		0.448	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	-	0	89	0	C	NM_173586	Missense_Mutation	62910850	-1	tier1	-	no_errors	ENST00000326192	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	G	G	62910850	C	G	62910850	5	3	126	1	0	0	0	0	0	0	1	0	14498	927	32	5	1291	5	SLC22A24	11	62910850	Splice_Site	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	6680173	62910850	72095666	177	32595											
ATG2A	23130	genome.wustl.edu	37	chr11	64679849	64679849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgctggagctgcctcGgggtcaggagcaggtgcagg	7	7	19	8	1	1	0	1	0	0	0	2	3	1	2	1	6	5	5	1	6	1	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:64679849G>T	ENST00000377264.3	-	7	984	c.872C>A	c.(871-873)cCg>cAg	p.P291Q	ATG2A_ENST00000421419.2_Missense_Mutation_p.P291Q	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	291					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						GAGCTGCCTCGGGGTCAGGAG	0.682																																																	0													23	24	23					11																	64679849		2179	4266	6445	SO:0001583	missense	0				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.872C>A	11.37:g.64679849G>T	ENSP00000366475:p.Pro291Gln		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.P291Q	ENST00000377264.3	37	c.872	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881506	0.51908	.	.	ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459	T;T	0.54071	0.59;0.6	3.96	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.75615	2.305	0.53688	D	0.999973	D	0.89917	1.0	D	0.91635	0.999	T	0.75569	-0.3272	10	0.87932	D	0	.	13.91	0.63860	0.0:0.0:1.0:0.0	.	291	Q2TAZ0	ATG2A_HUMAN	Q	291	ENSP00000410522:P291Q;ENSP00000366475:P291Q	ENSP00000227459:P291Q	P	-	2	0	ATG2A	64436425	1.000000	0.71417	0.869000	0.34112	0.039000	0.13416	6.539000	0.73856	2.224000	0.72417	0.561000	0.74099	CCG	ATG2A	-	NULL	ENSG00000110046		0.682	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1		0	54	0	G	NM_015104		64679849	-1			no_errors	ENST00000421419	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.996	T	T	64679849	G	T	64679849	3	4	126	1	0	0	0	0	1	0	0	0	1094	1116	39	2	5084	2	ATG2A	11	64679849	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	1768999	64679849	70326667	178	32596											
PPP2R5B	5526	genome.wustl.edu	37	chr11	64697849	64697849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctgctggagatcctaGgaaggtgattctccctgggc	7	10	14	10	0	1	3	0	2	1	1	3	5	2	4	2	4	2	2	2	4	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:64697849G>A	ENST00000164133.2	+	7	1400	c.778G>A	c.(778-780)Gga>Aga	p.G260R		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	260					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GGAGATCCTAGGAAGGTGATT	0.567																																																	0													111	99	103					11																	64697849		2200	4296	6496	SO:0001583	missense	0			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.778G>A	11.37:g.64697849G>A	ENSP00000164133:p.Gly260Arg		Q13853	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.G260R	ENST00000164133.2	37	c.778	CCDS8085.1	11	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879012	0.91740	.	.	ENSG00000068971	ENST00000164133;ENST00000359279;ENST00000527441	.	.	.	3.81	3.81	0.43845	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87229	0.6125	H	0.97540	4.025	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.91305	0.5070	9	0.87932	D	0	-9.0602	14.0102	0.64490	0.0:0.0:1.0:0.0	.	260	Q15173	2A5B_HUMAN	R	260;287;260	.	ENSP00000164133:G260R	G	+	1	0	PPP2R5B	64454425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.126000	0.94411	2.422000	0.82143	0.655000	0.94253	GGA	PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000068971		0.567	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	-	0	55	0	G	NM_006244		64697849	1	tier1	-	no_errors	ENST00000164133	ensembl	human	known	74_37	missense	45.00	11	9	SNP	1.000	A	A	64697849	G	A	64697849	3	1	126	1	0	0	0	0	1	0	0	0	12435	1001	35	3	800	3	PPP2R5B	11	64697849	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	18000	64697849	70308667	179	32597											
CAPN1	823	genome.wustl.edu	37	chr11	64953781	64953781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcctcaaggcgctggagcGgggctccctgctgggctgct	4	8	15	14	2	1	0	1	0	0	0	3	1	3	1	2	5	3	5	2	5	1	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:64953781G>T	ENST00000527323.1	+	5	971	c.731G>T	c.(730-732)cGg>cTg	p.R244L	CAPN1_ENST00000533129.1_Missense_Mutation_p.R244L|CAPN1_ENST00000533820.1_Missense_Mutation_p.R244L|CAPN1_ENST00000279247.6_Missense_Mutation_p.R244L|CAPN1_ENST00000524773.1_Missense_Mutation_p.R244L			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	244	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GCGCTGGAGCGGGGCTCCCTG	0.582																																																	0													29	35	33					11																	64953781		1986	4160	6146	SO:0001583	missense	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.731G>T	11.37:g.64953781G>T	ENSP00000431984:p.Arg244Leu		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R244L	ENST00000527323.1	37	c.731	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539403	0.85917	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323;ENST00000526468	D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	4.53	3.62	0.41486	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.93350	0.7880	M	0.86651	2.83	0.80722	D	1	P	0.49862	0.929	P	0.59221	0.854	D	0.93008	0.6429	10	0.62326	D	0.03	.	10.387	0.44145	0.0975:0.0:0.9025:0.0	.	244	P07384	CAN1_HUMAN	L	244;244;244;244;190;244;139	ENSP00000435272:R244L;ENSP00000431686:R244L;ENSP00000434176:R244L;ENSP00000279247:R244L;ENSP00000431984:R244L;ENSP00000433366:R139L	ENSP00000259755:R190L	R	+	2	0	CAPN1	64710357	1.000000	0.71417	0.410000	0.26471	0.980000	0.70556	5.712000	0.68407	0.913000	0.36797	0.563000	0.77884	CGG	CAPN1	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000014216		0.582	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	-	0	74	0	G			64953781	1	tier1	-	no_errors	ENST00000279247	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.985	T	T	64953781	G	T	64953781	3	4	126	1	0	0	0	0	1	0	0	0	2629	1116	39	2	749	2	CAPN1	11	64953781	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	255932	64953781	70052735	180	32598											
BBS1	582	genome.wustl.edu	37	chr11	66288790	66288790	+	Missense_Mutation	SNP	A	A	C	1	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	agaggtttctggccagtttgAtgttgagttccggcttgccg	5	14	14	8	2	1	3	0	2	1	1	2	3	2	3	3	3	1	5	3	3	0	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:66288790A>C	ENST00000318312.7	+	9	824	c.773A>C	c.(772-774)gAt>gCt	p.D258A	ZDHHC24_ENST00000526986.1_3'UTR|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.D295A|BBS1_ENST00000393994.2_Intron|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000537537.1_Missense_Mutation_p.D146A|BBS1_ENST00000455748.2_Missense_Mutation_p.D161A	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	258					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GGCCAGTTTGATGTTGAGTTC	0.567									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												0													111	98	102					11																	66288790		2200	4295	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.773A>C	11.37:g.66288790A>C	ENSP00000317469:p.Asp258Ala		Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.D295A	ENST00000318312.7	37	c.884	CCDS8142.1	11	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077364	0.76415	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000537537;ENST00000525809;ENST00000455748	T;T;D;D;D	0.90620	0.73;0.73;-2.7;-2.7;-2.7	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	D	0.92328	0.7566	M	0.87180	2.865	0.80722	D	1	P;B;B;B	0.45474	0.859;0.238;0.238;0.238	B;B;B;B	0.43889	0.435;0.247;0.113;0.159	D	0.93015	0.6435	9	0.56958	D	0.05	.	13.9495	0.64106	1.0:0.0:0.0:0.0	.	161;146;258;295	E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;BBS1_HUMAN;.	A	295;258;146;167;161	ENSP00000398526:D295A;ENSP00000317469:D258A;ENSP00000439873:D146A;ENSP00000431187:D167A;ENSP00000405764:D161A	ENSP00000317469:D258A	D	+	2	0	BBS1;CTD-3074O7.11	66045366	1.000000	0.71417	0.979000	0.43373	0.898000	0.52572	8.150000	0.89634	2.182000	0.69389	0.528000	0.53228	GAT	CTD-3074O7.11	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000256349		0.567	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS1	Clone_based_vega_gene	protein_coding	OTTHUMT00000393235.2	-	0	105	0	A			66288790	1	tier1	-	no_errors	ENST00000419755	ensembl	human	known	74_37	missense	20.34	47	12	SNP	1.000	C	C	66288790	A	C	66288790	3	2	126	1	0	0	0	0	1	0	0	0	1336	333	12	4	807	4	BBS1	11	66288790	Missense_Mutation	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	1335009	66288790	68717726	181	32599											
ODZ4	26011	genome.wustl.edu	37	chr11	78387402	78387402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagccgcaaggagccatcgGccccgatgtagtagctgttc	8	7	13	13	3	0	0	0	0	0	0	2	2	0	1	4	2	3	6	4	2	3	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:78387402G>T	ENST00000278550.7	-	30	5753	c.5291C>A	c.(5290-5292)gCc>gAc	p.A1764D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1764					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)										GGAGCCATCGGCCCCGATGTA	0.632																																																	0													29	35	33					11																	78387402		2132	4245	6377	SO:0001583	missense	0			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.5291C>A	11.37:g.78387402G>T	ENSP00000278550:p.Ala1764Asp		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A1764D	ENST00000278550.7	37	c.5291	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962256	0.53400	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90004	-2.6;0.85	4.71	4.71	0.59529	.	0.132855	0.51477	D	0.000095	D	0.82958	0.5150	N	0.12182	0.205	0.42021	D	0.99098	D	0.57257	0.979	P	0.47299	0.543	T	0.82831	-0.0263	9	.	.	.	.	18.2069	0.89858	0.0:0.0:1.0:0.0	.	1764	Q6N022	TEN4_HUMAN	D	1764;228	ENSP00000278550:A1764D;ENSP00000431711:A228D	.	A	-	2	0	ODZ4	78065050	0.898000	0.30612	0.883000	0.34634	0.549000	0.35272	5.039000	0.64185	2.584000	0.87258	0.650000	0.86243	GCC	TENM4	-	NULL	ENSG00000149256		0.632	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2		0	79	0	G			78387402	-1			no_errors	ENST00000278550	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.979	T	T	78387402	G	T	78387402	3	4	126	1	0	0	0	0	1	0	0	0	10876	1203	42	3	3038	3	ODZ4	11	78387402	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	12098612	78387402	56619114	182	32600											
HEPHL1	341208	genome.wustl.edu	37	chr11	93779036	93779036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaactttgcttctcgacCttactctctgcatccacatg	10	13	5	13	1	2	1	0	0	2	1	5	2	3	1	2	0	4	2	2	0	3	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:93779036C>A	ENST00000315765.9	+	2	376	c.368C>A	c.(367-369)cCt>cAt	p.P123H		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	123	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCTTCTCGACCTTACTCTCTG	0.438																																																	0													88	88	88					11																	93779036		1876	4112	5988	SO:0001583	missense	0			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.368C>A	11.37:g.93779036C>A	ENSP00000313699:p.Pro123His		Q3C1W7	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.P123H	ENST00000315765.9	37	c.368	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122610	0.56613	.	.	ENSG00000181333	ENST00000315765	D	0.99214	-5.57	4.97	4.97	0.65823	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.327214	0.33235	N	0.005132	D	0.99414	0.9793	M	0.92833	3.35	0.20638	N	0.999877	P	0.52463	0.953	P	0.61533	0.89	D	0.97376	0.9979	10	0.66056	D	0.02	.	12.6435	0.56721	0.1654:0.8346:0.0:0.0	.	123	Q6MZM0	HPHL1_HUMAN	H	123	ENSP00000313699:P123H	ENSP00000313699:P123H	P	+	2	0	HEPHL1	93418684	0.612000	0.27000	0.935000	0.37517	0.976000	0.68499	2.792000	0.47837	2.446000	0.82766	0.650000	0.86243	CCT	HEPHL1	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000181333		0.438	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	-	0	95	0	C	XM_291947		93779036	1	tier1	-	no_errors	ENST00000315765	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.273	A	A	93779036	C	A	93779036	3	1	126	1	0	0	0	0	1	0	0	0	7082	681	24	3	374	3	HEPHL1	11	93779036	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	15391634	93779036	41227480	183	32601											
VPS11	55823	genome.wustl.edu	37	chr11	118947656	118947656	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgatccgcaagtttctggatGcccagcgcattcacaacctg	9	10	9	13	2	2	1	1	1	1	0	3	2	3	2	3	1	3	3	3	1	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr11:118947656G>T	ENST00000300793.6	+	9	1327	c.1285G>T	c.(1285-1287)Gcc>Tcc	p.A429S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	430					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GTTTCTGGATGCCCAGCGCAT	0.537																																																	0													88	94	92					11																	118947656		2142	4237	6379	SO:0001583	missense	0			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1285G>T	11.37:g.118947656G>T	ENSP00000475301:p.Ala429Ser		Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING	p.A429S	ENST00000300793.6	37	c.1285		11																																																																																			VPS11	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,pirsf_VPS11	ENSG00000160695		0.537	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		-	0	46	0	G	NM_021729		118947656	1	tier1	-	no_errors	ENST00000300793	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T	T	118947656	G	T	118947656	3	4	126	1	0	0	0	0	1	0	0	0	17237	1319	46	3	1317	3	VPS11	11	118947656	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	25168620	118947656	16058860	184	32602											
APOBEC1	339	genome.wustl.edu	37	chr12	7803631	7803631	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgacttactagaattatgcaGtgcagctccagtgcgtacaa	12	11	9	9	1	0	2	0	1	0	1	1	2	1	2	1	0	6	4	1	0	6	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:7803631G>T	ENST00000229304.4	-	4	569	c.549C>A	c.(547-549)caC>caA	p.H183Q		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	183	Leu-rich.				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						GAATTATGCAGTGCAGCTCCA	0.438																																					Pancreas(135;929 1826 4531 10527 41012)												0													157	144	148					12																	7803631		2203	4300	6503	SO:0001583	missense	0			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.549C>A	12.37:g.7803631G>T	ENSP00000229304:p.His183Gln		Q9UE64|Q9UM71	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.H183Q	ENST00000229304.4	37	c.549	CCDS8579.1	12	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517305	0.44763	.	.	ENSG00000111701	ENST00000229304	T	0.64260	-0.09	4.9	3.98	0.46160	.	0.397332	0.21555	N	0.072662	T	0.65657	0.2712	L	0.57536	1.79	0.22835	N	0.998678	D	0.54397	0.966	P	0.52109	0.69	T	0.57106	-0.7868	10	0.34782	T	0.22	-3.7265	11.4168	0.49956	0.0:0.1828:0.8172:0.0	.	183	P41238	ABEC1_HUMAN	Q	183	ENSP00000229304:H183Q	ENSP00000229304:H183Q	H	-	3	2	APOBEC1	7694898	0.602000	0.26916	0.999000	0.59377	0.531000	0.34715	0.297000	0.19101	1.145000	0.42336	0.655000	0.94253	CAC	APOBEC1	-	NULL	ENSG00000111701		0.438	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC1	HGNC	protein_coding	OTTHUMT00000280523.1	-	0	71	0	G	NM_001644		7803631	-1	tier1	-	no_errors	ENST00000229304	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	7803631	G	T	7803631	3	4	126	1	0	0	0	0	1	0	0	0	787	1020	36	3	169	3	APOBEC1	12	7803631	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		7803631	126048264	185	32603											
MGP	4256	genome.wustl.edu	37	chr12	15035090	15035090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcatttggtccctcggcGcttcctgaagtagcgattat	6	14	10	11	3	1	1	1	1	1	0	5	2	3	1	2	2	1	2	2	2	3	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:15035090G>A	ENST00000539261.1	-	4	429	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Missense_Mutation_p.R124C	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	99					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						GTCCCTCGGCGCTTCCTGAAG	0.463																																																	0													123	122	122					12																	15035090		2203	4300	6503	SO:0001583	missense	0			M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.295C>T	12.37:g.15035090G>A	ENSP00000445907:p.Arg99Cys		A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_Osteocalcin/MGP	p.R99C	ENST00000539261.1	37	c.295	CCDS8669.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.39|14.39	2.520838|2.520838	0.44866|0.44866	.|.	.|.	ENSG00000111341|ENSG00000111341	ENST00000545199|ENST00000539261;ENST00000228938	.|T;T	.|0.42513	.|0.97;1.03	5.12|5.12	4.23|4.23	0.50019|0.50019	.|Gamma-carboxyglutamic acid-rich (GLA) domain (1);	.|0.191537	.|0.41823	.|N	.|0.000801	T|T	0.50837|0.50837	0.1639|0.1639	M|M	0.66939|0.66939	2.045|2.045	0.53688|0.53688	D|D	0.999971|0.999971	.|D	.|0.89917	.|1.0	.|P	.|0.53146	.|0.719	T|T	0.55897|0.55897	-0.8068|-0.8068	5|10	.|0.87932	.|D	.|0	-7.3604|-7.3604	9.7333|9.7333	0.40374|0.40374	0.0939:0.0:0.9061:0.0|0.0939:0.0:0.9061:0.0	.|.	.|99	.|P08493	.|MGP_HUMAN	V|C	53|99;124	.|ENSP00000445907:R99C;ENSP00000228938:R124C	.|ENSP00000228938:R124C	A|R	-|-	2|1	0|0	MGP|MGP	14926357|14926357	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.035000|0.035000	0.12851|0.12851	2.408000|2.408000	0.44574|0.44574	1.528000|1.528000	0.49103|0.49103	-0.145000|-0.145000	0.13849|0.13849	GCG|CGC	MGP	-	superfamily_GLA_domain	ENSG00000111341		0.463	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGP	HGNC	protein_coding	OTTHUMT00000400864.1	-	0	66	0	G	NM_000900		15035090	-1	tier1	-	no_errors	ENST00000539261	ensembl	human	known	74_37	missense	18.00	41	9	SNP	0.977	A	A	15035090	G	A	15035090	3	1	126	1	0	0	0	0	1	0	0	0	9596	1087	38	1	20	1	MGP	12	15035090	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	7231459	15035090	118816805	186	32604											
ABCC9	10060	genome.wustl.edu	37	chr12	22013930	22013930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccaatttcagtttgatctCcaaatggtaataagtcaata	14	14	5	8	0	3	1	2	1	1	0	5	1	4	1	2	1	0	2	2	1	6	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:22013930C>G	ENST00000261201.4	-	19	2398	c.2399G>C	c.(2398-2400)gGa>gCa	p.G800A	ABCC9_ENST00000261200.4_Missense_Mutation_p.G800A|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G764A	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	800	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGTTTGATCTCCAAATGGTAA	0.323																																																	0													109	107	107					12																	22013930		2203	4299	6502	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2399G>C	12.37:g.22013930C>G	ENSP00000261201:p.Gly800Ala		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.G800A	ENST00000261201.4	37	c.2399	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717807	0.89205	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96744	0.8937	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97341	0.9957	10	0.87932	D	0	-14.1768	18.5546	0.91079	0.0:1.0:0.0:0.0	.	800;800	O60706;O60706-2	ABCC9_HUMAN;.	A	800;427;800;764	ENSP00000261200:G800A;ENSP00000440521:G427A;ENSP00000261201:G800A;ENSP00000261202:G764A	ENSP00000261200:G800A	G	-	2	0	ABCC9	21905197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.560000	0.82277	2.614000	0.88457	0.563000	0.77884	GGA	ABCC9	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000069431		0.323	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	76	0	C	NM_005691		22013930	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	G	G	22013930	C	G	22013930	3	3	126	1	0	0	0	0	1	0	0	0	59	855	30	5	2472	5	ABCC9	12	22013930	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	6978840	22013930	111837965	187	32605											
CMAS	55907	genome.wustl.edu	37	chr12	22218096	22218096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcttgaagagagtgggcCtaagtggcgctcctgctgat	8	10	15	8	1	0	3	0	2	0	1	1	4	1	3	2	2	2	3	2	2	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:22218096C>A	ENST00000229329.2	+	8	1286	c.1156C>A	c.(1156-1158)Cta>Ata	p.L386I		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	386					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						GAGAGTGGGCCTAAGTGGCGC	0.428																																																	0													194	199	197					12																	22218096		2203	4300	6503	SO:0001583	missense	0			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.1156C>A	12.37:g.22218096C>A	ENSP00000229329:p.Leu386Ile		Q96AX5|Q9NQZ0	Missense_Mutation	SNP	pfam_Cytidylyl_trans,superfamily_HAD-like_dom	p.L386I	ENST00000229329.2	37	c.1156	CCDS8696.1	12	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922399	0.33908	.	.	ENSG00000111726	ENST00000229329	T	0.14266	2.52	5.53	3.54	0.40534	HAD-like domain (2);	0.127232	0.52532	D	0.000063	T	0.10121	0.0248	L	0.37750	1.13	0.80722	D	1	B	0.14805	0.011	B	0.18263	0.021	T	0.12091	-1.0561	10	0.37606	T	0.19	-19.8469	6.1652	0.20386	0.3101:0.5918:0.0:0.0981	.	386	Q8NFW8	NEUA_HUMAN	I	386	ENSP00000229329:L386I	ENSP00000229329:L386I	L	+	1	2	CMAS	22109363	0.992000	0.36948	0.955000	0.39395	0.982000	0.71751	1.354000	0.34056	1.326000	0.45319	0.557000	0.71058	CTA	CMAS	-	superfamily_HAD-like_dom	ENSG00000111726		0.428	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMAS	HGNC	protein_coding	OTTHUMT00000402235.1	-	0	106	0	C	NM_018686		22218096	1	tier1	-	no_errors	ENST00000229329	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	22218096	C	A	22218096	3	1	126	1	0	0	0	0	1	0	0	0	3582	680	24	3	1186	3	CMAS	12	22218096	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	204166	22218096	111633799	188	32606											
SLC2A13	114134	genome.wustl.edu	37	chr12	40345077	40345077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatgatggtgttaatgcctGagagctgctggaacatttgt	10	13	12	6	0	0	2	0	2	0	1	0	4	0	3	1	2	4	3	1	2	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:40345077G>A	ENST00000280871.4	-	4	1066	c.1016C>T	c.(1015-1017)tCa>tTa	p.S339L	SLC2A13_ENST00000380858.1_Missense_Mutation_p.S339L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	339					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)				GTTAATGCCTGAGAGCTGCTG	0.383										HNSCC(50;0.14)																																							0													92	90	91					12																	40345077		2203	4300	6503	SO:0001583	missense	0			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.1016C>T	12.37:g.40345077G>A	ENSP00000280871:p.Ser339Leu		Q17S07	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.S339L	ENST00000280871.4	37	c.1016	CCDS8736.2	12	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751170	0.89753	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.75704	-0.96;-0.96	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.304360	0.33161	N	0.005216	D	0.82481	0.5046	M	0.87758	2.905	0.80722	D	1	B;P	0.38473	0.062;0.633	B;B	0.43155	0.11;0.41	D	0.85416	0.1140	10	0.72032	D	0.01	-8.3133	18.9337	0.92577	0.0:0.0:1.0:0.0	.	339;339	Q96QE2;E9PE47	MYCT_HUMAN;.	L	339	ENSP00000280871:S339L;ENSP00000370239:S339L	ENSP00000280871:S339L	S	-	2	0	SLC2A13	38631344	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.619000	0.90938	2.706000	0.92434	0.555000	0.69702	TCA	SLC2A13	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000151229		0.383	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A13	HGNC	protein_coding	OTTHUMT00000132849.2	-	0	175	0	G			40345077	-1	tier1	-	no_errors	ENST00000280871	ensembl	human	known	74_37	missense	5.68	83	5	SNP	1.000	A	A	40345077	G	A	40345077	3	1	126	1	0	0	0	0	1	0	0	0	14587	1294	45	3	958	3	SLC2A13	12	40345077	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	18126981	40345077	93506818	189	32607											
ARID2	196528	genome.wustl.edu	37	chr12	46244203	46244203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacattgcttcaccatcCatctgtaattccacagcagt	11	12	5	13	0	3	1	2	0	1	1	5	1	5	1	3	0	2	3	3	0	1	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:46244203C>A	ENST00000334344.6	+	15	2469	c.2297C>A	c.(2296-2298)cCa>cAa	p.P766Q	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Missense_Mutation_p.P617Q|ARID2_ENST00000444670.1_Missense_Mutation_p.P376Q|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	766					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)		CTTCACCATCCATCTGTAATT	0.473			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													84	72	76					12																	46244203		2203	4300	6503	SO:0001583	missense	0				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.2297C>A	12.37:g.46244203C>A	ENSP00000335044:p.Pro766Gln		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P766Q	ENST00000334344.6	37	c.2297	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821556	0.32237	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.34472	1.36	5.97	5.97	0.96955	.	0.106321	0.64402	D	0.000004	T	0.26412	0.0645	N	0.17082	0.46	0.80722	D	1	B;B;B	0.22746	0.074;0.074;0.016	B;B;B	0.23574	0.047;0.047;0.014	T	0.03957	-1.0989	10	0.41790	T	0.15	-9.6831	15.0559	0.71912	0.175:0.8249:0.0:0.0	.	766;376;766	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	Q	766;617;376	ENSP00000335044:P766Q	ENSP00000335044:P766Q	P	+	2	0	ARID2	44530470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.548000	0.60718	2.837000	0.97791	0.655000	0.94253	CCA	ARID2	-	NULL	ENSG00000189079		0.473	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2		0	36	0	C	XM_350875		46244203	1			no_errors	ENST00000334344	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	A	A	46244203	C	A	46244203	3	1	126	1	0	0	0	0	1	0	0	0	915	594	21	3	2355	3	ARID2	12	46244203	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	5899126	46244203	87607692	190	32608											
COL2A1	1280	genome.wustl.edu	37	chr12	48372118	48372118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctcaccacgttgccCaggcagaccgacgatgcctc	7	8	8	18	3	2	1	1	0	1	1	5	3	3	1	5	1	2	2	5	1	0	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:48372118C>A	ENST00000380518.3	-	43	3123	c.2959G>T	c.(2959-2961)Ggg>Tgg	p.G987W	COL2A1_ENST00000337299.6_Missense_Mutation_p.G918W|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	987	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)	CCACGTTGCCCAGGCAGACCG	0.637																																																	0													133	83	100					12																	48372118		2203	4300	6503	SO:0001583	missense	0			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.2959G>T	12.37:g.48372118C>A	ENSP00000369889:p.Gly987Trp		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	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G987W	ENST00000380518.3	37	c.2959	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034237	0.75617	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99194	-5.54;-5.54	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.99674	0.9878	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97243	0.9892	10	0.87932	D	0	.	18.8574	0.92259	0.0:1.0:0.0:0.0	.	918;987	P02458-1;P02458	.;CO2A1_HUMAN	W	987;918;918	ENSP00000369889:G987W;ENSP00000338213:G918W	ENSP00000338213:G918W	G	-	1	0	COL2A1	46658385	1.000000	0.71417	0.943000	0.38184	0.920000	0.55202	7.482000	0.81143	2.550000	0.86006	0.462000	0.41574	GGG	COL2A1	-	pfam_Collagen	ENSG00000139219		0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	-	0	59	0	C	NM_001844		48372118	-1	tier1	-	no_errors	ENST00000380518	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	A	A	48372118	C	A	48372118	3	1	126	1	0	0	0	0	1	0	0	0	3694	594	21	3	1552	3	COL2A1	12	48372118	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	2127915	48372118	85479777	191	32609											
MLL2	8085	genome.wustl.edu	37	chr12	49435318	49435318	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgatctggctctcagcctGctacagggggagaccaggca	8	8	14	11	0	2	2	1	1	2	1	3	3	2	2	2	4	3	4	2	4	1	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:49435318G>T	ENST00000301067.7	-	31	6234	c.6235C>A	c.(6235-6237)Cag>Aag	p.Q2079K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2079					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)										CTCTCAGCCTGCTACAGGGGG	0.642																																																	0													64	70	68					12																	49435318		2068	4203	6271	SO:0001630	splice_region_variant	0			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.6235-1C>A	12.37:g.49435318G>T			O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2079K	ENST00000301067.7	37	c.6235	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714344	0.30413	.	.	ENSG00000167548	ENST00000301067	T	0.79749	-1.3	4.28	4.28	0.50868	High mobility group, HMG1/HMG2 (1);	0.000000	0.34555	N	0.003867	D	0.82435	0.5036	N	0.19112	0.55	0.51767	D	0.999931	D	0.69078	0.997	D	0.73380	0.98	D	0.85324	0.1086	10	0.87932	D	0	.	16.6937	0.85328	0.0:0.0:1.0:0.0	.	2079	O14686	MLL2_HUMAN	K	2079	ENSP00000301067:Q2079K	ENSP00000301067:Q2079K	Q	-	1	0	MLL2	47721585	.	.	1.000000	0.80357	0.976000	0.68499	.	.	2.686000	0.91538	0.561000	0.74099	CAG	KMT2D	-	smart_HMG_box_dom	ENSG00000167548		0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	45	0	G		Missense_Mutation	49435318	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	49435318	G	T	49435318	5	4	126	1	0	0	0	0	0	0	1	0	9659	1333	46	3	10474	3	MLL2	12	49435318	Splice_Site	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	1063200	49435318	84416577	192	32610											
TFCP2	7024	genome.wustl.edu	37	chr12	51566125	51566125	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagttcctggccgatcccGgacaggctagcatcaaagtc	9	7	10	15	2	1	0	1	0	0	0	4	2	3	1	4	3	1	3	4	3	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:51566125G>T	ENST00000257915.5	-	1	539	c.81C>A	c.(79-81)tcC>tcA	p.S27S	TFCP2_ENST00000548115.1_Silent_p.S27S|TFCP2_ENST00000307660.4_Silent_p.S27S|TFCP2_ENST00000549867.1_Silent_p.S27S	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	27					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GGCCGATCCCGGACAGGCTAG	0.557																																																	0													133	128	129					12																	51566125		2203	4300	6503	SO:0001819	synonymous_variant	0			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.81C>A	12.37:g.51566125G>T			A8K5E9|Q12801|Q9UD75|Q9UD77	Silent	SNP	pfam_CP2,superfamily_SAM/pointed	p.S27	ENST00000257915.5	37	c.81	CCDS8808.1	12																																																																																			TFCP2	-	NULL	ENSG00000135457		0.557	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1	-	0	64	0	G	NM_005653		51566125	-1	tier1	-	no_errors	ENST00000257915	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.877	T	T	51566125	G	T	51566125	2	4	126	1	0	0	0	0	0	0	0	1	15842	1103	39	2		2	TFCP2	12	51566125	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2130807	51566125	82285770	193	32611											
SUOX	6821	genome.wustl.edu	37	chr12	56398569	56398569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtggatgtgtctctggatGggggcctaacctggcaggtg	5	10	19	7	0	1	0	0	0	1	0	2	2	1	2	2	7	1	1	2	7	1	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:56398569G>T	ENST00000394109.3	+	3	2120	c.1396G>T	c.(1396-1398)Ggg>Tgg	p.G466W	SUOX_ENST00000548274.1_Missense_Mutation_p.G466W|SUOX_ENST00000266971.3_Missense_Mutation_p.G466W|SUOX_ENST00000394115.2_Missense_Mutation_p.G466W|IKZF4_ENST00000262032.5_5'Flank|SUOX_ENST00000356124.4_Missense_Mutation_p.G466W			P51687	SUOX_HUMAN	sulfite oxidase	466	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GTCTCTGGATGGGGGCCTAAC	0.617																																																	0													182	161	168					12																	56398569		2203	4300	6503	SO:0001583	missense	0			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1396G>T	12.37:g.56398569G>T	ENSP00000377668:p.Gly466Trp			Missense_Mutation	SNP	pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd	p.G466W	ENST00000394109.3	37	c.1396	CCDS8901.2	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091927	0.76756	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	4.96	4.96	0.65561	Immunoglobulin E-set (1);Moybdenum cofactor oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.95639	0.8582	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97025	0.9746	10	0.87932	D	0	-29.071	15.604	0.76649	0.0:0.0:1.0:0.0	.	466	P51687	SUOX_HUMAN	W	466	ENSP00000348440:G466W;ENSP00000266971:G466W;ENSP00000377674:G466W;ENSP00000450245:G466W;ENSP00000377668:G466W	ENSP00000266971:G466W	G	+	1	0	SUOX	54684836	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.741000	0.91583	2.752000	0.94435	0.467000	0.42956	GGG	SUOX	-	pfam_MoCF_OxRdtse_dimer,superfamily_Ig_E-set,prints_Mopterin_OxRdtase_euk	ENSG00000139531		0.617	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUOX	HGNC	protein_coding	OTTHUMT00000250309.1	-	0	121	0	G	NM_000456		56398569	1	tier1	-	no_errors	ENST00000266971	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	56398569	G	T	56398569	3	4	126	1	0	0	0	0	1	0	0	0	15442	1348	47	3	1406	3	SUOX	12	56398569	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4832444	56398569	77453326	194	32612											
R3HDM2	22864	genome.wustl.edu	37	chr12	57652736	57652736	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgctggtccatgctgtaGtatttacaatgactccactg	8	12	8	13	1	0	1	0	1	0	0	2	1	2	1	4	1	2	4	4	1	4	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:57652736G>T	ENST00000347140.3	-	20	2586	c.2196C>A	c.(2194-2196)taC>taA	p.Y732*	R3HDM2_ENST00000403821.2_Nonsense_Mutation_p.Y766*|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Nonsense_Mutation_p.Y746*|R3HDM2_ENST00000441731.2_Nonsense_Mutation_p.Y427*|R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000358907.2_Nonsense_Mutation_p.Y732*|R3HDM2_ENST00000413953.2_Nonsense_Mutation_p.Y459*			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	732						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						CCATGCTGTAGTATTTACAAT	0.567																																																	0													81	76	78					12																	57652736		2203	4300	6503	SO:0001587	stop_gained	0			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.2196C>A	12.37:g.57652736G>T	ENSP00000317903:p.Tyr732*		Q2M1T9|Q3ZCT5	Nonsense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Y732*	ENST00000347140.3	37	c.2196	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765100	0.90020	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000548161	.	.	.	5.22	-3.72	0.04411	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6038	14.4188	0.67168	0.379:0.0:0.621:0.0	.	.	.	.	X	459;459;732;746;732;427;497;766;121	.	ENSP00000317903:Y732X	Y	-	3	2	R3HDM2	55939003	0.961000	0.32948	0.979000	0.43373	0.993000	0.82548	0.151000	0.16283	-0.534000	0.06315	-0.302000	0.09304	TAC	R3HDM2	-	NULL	ENSG00000179912		0.567	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2	-	0	73	0	G	NM_014925		57652736	-1	tier1	-	no_errors	ENST00000347140	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	0.972	T	T	57652736	G	T	57652736	4	4	126	1	0	0	0	0	0	1	0	0	12933	1024	36	3	754	3	R3HDM2	12	57652736	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	1254167	57652736	76199159	195	32613											
INHBE	83729	genome.wustl.edu	37	chr12	57849605	57849605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaggaggtcatcagctttGctactgtcacaggtgggtga	8	10	16	7	0	3	1	3	1	0	0	3	3	3	3	0	5	3	2	0	5	1	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:57849605G>T	ENST00000266646.2	+	1	502	c.286G>T	c.(286-288)Gct>Tct	p.A96S	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	96					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CATCAGCTTTGCTACTGTCAC	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													52	58	56					12																	57849605		2203	4300	6503	SO:0001583	missense	0				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.286G>T	12.37:g.57849605G>T	ENSP00000266646:p.Ala96Ser	1026		Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu	p.A96S	ENST00000266646.2	37	c.286	CCDS8939.1	12	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759212	0.69763	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.88124	-2.34;-0.27	4.4	4.4	0.53042	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	M	0.81942	2.565	0.49483	D	0.999791	D	0.76494	0.999	D	0.81914	0.995	D	0.92586	0.6079	10	0.51188	T	0.08	-5.2039	12.6813	0.56924	0.0:0.0:1.0:0.0	.	96	P58166	INHBE_HUMAN	S	41;96	ENSP00000450212:A41S;ENSP00000266646:A96S	ENSP00000266646:A96S	A	+	1	0	INHBE	56135872	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.083000	0.41615	2.438000	0.82558	0.655000	0.94253	GCT	INHBE	-	pfam_TGF-b_N	ENSG00000139269		0.612	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBE	HGNC	protein_coding	OTTHUMT00000406773.1	-	0	39	0	G	NM_031479		57849605	1	tier1	-	no_errors	ENST00000266646	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T	T	57849605	G	T	57849605	3	4	126	1	0	0	0	0	1	0	0	0	7771	1319	46	3	288	3	INHBE	12	57849605	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	196869	57849605	76002290	196	32614											
HELB	92797	genome.wustl.edu	37	chr12	66716526	66716526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagactgtgatctaattaatGactgctgctgcaaacactac	14	11	7	9	0	1	3	0	2	1	1	1	3	1	3	0	0	5	3	0	0	5	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:66716526G>A	ENST00000247815.4	+	9	2319	c.2260G>A	c.(2260-2262)Gac>Aac	p.D754N		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	754					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TCTAATTAATGACTGCTGCTG	0.413																																																	0													139	138	138					12																	66716526		2203	4300	6503	SO:0001583	missense	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2260G>A	12.37:g.66716526G>A	ENSP00000247815:p.Asp754Asn		A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.D754N	ENST00000247815.4	37	c.2260	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821177	0.32237	.	.	ENSG00000127311	ENST00000247815	T	0.12255	2.7	5.37	3.54	0.40534	.	0.377613	0.25302	N	0.031655	T	0.11196	0.0273	L	0.51422	1.61	0.30032	N	0.813391	P	0.34462	0.454	B	0.24974	0.057	T	0.08391	-1.0724	9	.	.	.	-5.124	9.7012	0.40187	0.0773:0.155:0.7677:0.0	.	754	Q8NG08	HELB_HUMAN	N	754	ENSP00000247815:D754N	.	D	+	1	0	HELB	65002793	1.000000	0.71417	0.998000	0.56505	0.125000	0.20455	2.318000	0.43779	0.768000	0.33290	0.650000	0.86243	GAC	HELB	-	superfamily_P-loop_NTPase	ENSG00000127311		0.413	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	-	0	70	0	G			66716526	1	tier1	-	no_errors	ENST00000247815	ensembl	human	known	74_37	missense	35.71	27	15	SNP	1.000	A	A	66716526	G	A	66716526	3	1	126	1	0	0	0	0	1	0	0	0	7072	1290	45	3	2294	3	HELB	12	66716526	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	8866921	66716526	67135369	197	32615											
MDM2	4193	genome.wustl.edu	37	chr12	69233544	69233544	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tcttatggcctgctttacatGtgcaaagaagctaaagaaaa	15	11	8	7	0	1	2	0	0	1	2	1	2	1	2	1	1	4	3	1	1	8	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:69233544G>A	ENST00000350057.5	+	9	1316	c.1316G>A	c.(1315-1317)tGt>tAt	p.C439Y	RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000545204.1_3'UTR|MDM2_ENST00000258149.5_Missense_Mutation_p.C409Y|MDM2_ENST00000393413.3_Missense_Mutation_p.C191Y|MDM2_ENST00000299252.4_Missense_Mutation_p.C294Y|MDM2_ENST00000393412.3_Missense_Mutation_p.C191Y|MDM2_ENST00000462284.1_Missense_Mutation_p.C470Y|MDM2_ENST00000258148.7_Missense_Mutation_p.C415Y|MDM2_ENST00000544561.1_Missense_Mutation_p.M62I|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000348801.2_Missense_Mutation_p.C238Y|MDM2_ENST00000517852.1_Missense_Mutation_p.C103Y|MDM2_ENST00000356290.4_Missense_Mutation_p.C294Y|MDM2_ENST00000393410.1_Missense_Mutation_p.C216Y|MDM2_ENST00000360430.2_Missense_Mutation_p.C269Y|MDM2_ENST00000428863.2_Missense_Mutation_p.C243Y|MDM2_ENST00000540827.1_Missense_Mutation_p.C269Y			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	464	Necessary for interaction with USP2.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGCTTTACATGTGCAAAGAAG	0.408			A		"sarcoma, glioma, colorectal, other"																																			Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"M, O, E, L"	0													104	97	99					12																	69233544		1897	4127	6024	SO:0001583	missense	0				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.1316G>A	12.37:g.69233544G>A	ENSP00000266624:p.Cys439Tyr		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.C470Y	ENST00000350057.5	37	c.1409		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.57|14.57	2.574882|2.574882	0.45902|0.45902	.|.	.|.	ENSG00000135679|ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000428863;ENST00000393412;ENST00000311420;ENST00000258148;ENST00000393413;ENST00000350057;ENST00000393410;ENST00000299252;ENST00000360430;ENST00000517852;ENST00000348801|ENST00000544561	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97066|.	-4.23;-4.23;-4.23;-4.23;-4.23;-4.23;-4.23;-4.23;-4.23;-4.23;-4.23;-4.23;-4.23;-4.23|.	5.46|5.46	3.61|3.61	0.41365|0.41365	Zinc finger, RING-type (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87951|0.87951	0.6307|0.6307	H|H	0.98295|0.98295	4.195|4.195	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;0.999;0.999|.	D|D	0.91787|0.91787	0.5440|0.5440	9|5	.|.	.|.	.|.	-27.0149|-27.0149	12.911|12.911	0.58181|0.58181	0.1396:0.0:0.8604:0.0|0.1396:0.0:0.8604:0.0	.|.	419;243;191;216;294;464;415;269;103;470|.	Q00987-9;Q00987-3;Q00987-4;Q9H4C5;Q00987-5;Q00987;G3XA89;Q00987-2;Q9H4C3;Q00987-11|.	.;.;.;.;.;MDM2_HUMAN;.;.;.;.|.	Y|I	470;419;409;294;269;243;191;425;415;191;439;216;294;269;103;238|62	ENSP00000417281:C470Y;ENSP00000258149:C409Y;ENSP00000348637:C294Y;ENSP00000440932:C269Y;ENSP00000410694:C243Y;ENSP00000377064:C191Y;ENSP00000258148:C415Y;ENSP00000377065:C191Y;ENSP00000266624:C439Y;ENSP00000377062:C216Y;ENSP00000299252:C294Y;ENSP00000353611:C269Y;ENSP00000430257:C103Y;ENSP00000335096:C238Y|.	.|.	C|M	+|+	2|3	0|0	MDM2|MDM2	67519811|67519811	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.156000|0.156000	0.22039|0.22039	7.450000|7.450000	0.80656|0.80656	1.452000|1.452000	0.47756|0.47756	-0.136000|-0.136000	0.14681|0.14681	TGT|ATG	MDM2	-	pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RING	ENSG00000135679		0.408	MDM2-033	NOVEL	basic|exp_conf	protein_coding	MDM2	HGNC	protein_coding	OTTHUMT00000402665.1	-	0	128	0	G	NM_006880		69233544	1	tier1	-	no_errors	ENST00000462284	ensembl	human	known	74_37	missense	21.92	57	16	SNP	1.000	A	A	69233544	G	A	69233544	3	1	126	1	0	0	0	0	1	0	0	0	9451	1377	48	3	1451	3	MDM2	12	69233544	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2517018	69233544	64618351	198	32616											
LGR5	8549	genome.wustl.edu	37	chr12	71978061	71978061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacaagggagacctggaGaatatttgggactgctctat	11	11	13	6	0	1	2	0	0	1	2	1	6	1	4	1	4	1	1	1	4	4	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:71978061G>T	ENST00000266674.5	+	18	2582	c.2271G>T	c.(2269-2271)gaG>gaT	p.E757D	LGR5_ENST00000536515.1_Missense_Mutation_p.E685D|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.E733D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	757					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GAGACCTGGAGAATATTTGGG	0.468																																																	0													119	114	116					12																	71978061		2203	4300	6503	SO:0001583	missense	0			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2271G>T	12.37:g.71978061G>T	ENSP00000266674:p.Glu757Asp		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.E757D	ENST00000266674.5	37	c.2271	CCDS9000.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.117|8.117	0.780028|0.780028	0.16120|0.16120	.|.	.|.	ENSG00000139292|ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815|ENST00000451585	T;T;T|.	0.39056|.	1.1;1.1;1.1|.	5.75|5.75	3.46|3.46	0.39613|0.39613	GPCR, rhodopsin-like superfamily (1);|.	0.308416|0.308416	0.28016|0.28016	N|N	0.016921|0.016921	T|.	0.23611|.	0.0571|.	N|N	0.12569|0.12569	0.235|0.235	0.27924|0.27924	N|N	0.938153|0.938153	B;B|.	0.11235|.	0.003;0.004|.	B;B|.	0.11329|.	0.005;0.006|.	T|.	0.14008|.	-1.0488|.	10|.	0.12103|0.87932	T|D	0.63|0	.|.	8.1909|8.1909	0.31368|0.31368	0.1382:0.4225:0.4393:0.0|0.1382:0.4225:0.4393:0.0	.|.	733;757|.	O75473-2;O75473|.	.;LGR5_HUMAN|.	D|X	757;685;733|737	ENSP00000266674:E757D;ENSP00000443033:E685D;ENSP00000441035:E733D|.	ENSP00000266674:E757D|ENSP00000414152:E737X	E|E	+|+	3|1	2|0	LGR5|LGR5	70264328|70264328	0.997000|0.997000	0.39634|0.39634	0.964000|0.964000	0.40570|0.40570	0.952000|0.952000	0.60782|0.60782	0.475000|0.475000	0.22164|0.22164	1.246000|1.246000	0.43901|0.43901	0.655000|0.655000	0.94253|0.94253	GAG|GAA	LGR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000139292		0.468	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	-	0	72	0	G	NM_003667		71978061	1	tier1	-	no_errors	ENST00000266674	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.913	T	T	71978061	G	T	71978061	3	4	126	1	0	0	0	0	1	0	0	0	8786	933	33	3	2341	3	LGR5	12	71978061	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2744517	71978061	61873834	199	32617											
TRHDE	29953	genome.wustl.edu	37	chr12	72771779	72771779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatttttaattaggtacGattatatgcaagacctgatg	14	16	7	4	1	0	2	0	1	0	1	0	3	0	2	1	1	2	2	1	1	8	9			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:72771779G>T	ENST00000261180.4	+	3	1154	c.1058G>T	c.(1057-1059)cGa>cTa	p.R353L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	353					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R353Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						aattaGGTACGATTATATGCA	0.313																																																	1	Substitution - Missense(1)	large_intestine(1)											33	35	34					12																	72771779		2203	4293	6496	SO:0001583	missense	0			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.1058G>T	12.37:g.72771779G>T	ENSP00000261180:p.Arg353Leu		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.R353L	ENST00000261180.4	37	c.1058	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489594	0.84962	.	.	ENSG00000072657	ENST00000261180	T	0.03272	3.99	5.57	5.57	0.84162	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00804	-1.1559	10	0.51188	T	0.08	.	19.5437	0.95283	0.0:0.0:1.0:0.0	.	353	Q9UKU6	TRHDE_HUMAN	L	353	ENSP00000261180:R353L	ENSP00000261180:R353L	R	+	2	0	TRHDE	71058046	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	9.235000	0.95353	2.645000	0.89757	0.585000	0.79938	CGA	TRHDE	-	pfam_Peptidase_M1_N	ENSG00000072657		0.313	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1		0	107	0	G	NM_013381		72771779	1			no_errors	ENST00000261180	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	72771779	G	T	72771779	3	4	126	1	0	0	0	0	1	0	0	0	16527	1058	37	2	1068	2	TRHDE	12	72771779	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	793718	72771779	61080116	200	32618											
NAV3	89795	genome.wustl.edu	37	chr12	78574660	78574660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcataacagaatgaaattGaaatactgaaagctgaaaat	20	10	6	5	0	1	5	1	4	0	1	1	5	1	5	0	0	3	1	0	0	8	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:78574660G>C	ENST00000397909.2	+	30	5700	c.5527G>C	c.(5527-5529)Gaa>Caa	p.E1843Q	NAV3_ENST00000536525.2_Missense_Mutation_p.E1821Q|NAV3_ENST00000266692.7_Missense_Mutation_p.E1644Q|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.E1821Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1843						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						GAATGAAATTGAAATACTGAA	0.393										HNSCC(70;0.22)																																							0													46	45	46					12																	78574660		1866	4087	5953	SO:0001583	missense	0			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.5527G>C	12.37:g.78574660G>C	ENSP00000381007:p.Glu1843Gln		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E1843Q	ENST00000397909.2	37	c.5527		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.902239|4.902239	0.92035|0.92035	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.29655|.	1.61;1.59;1.6;1.56;2.42|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.000000|.	0.40818|.	U|.	0.001009|.	T|.	0.77356|.	0.4118|.	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.996;1.0;0.998|.	D;D;D;D|.	0.85130|.	0.98;0.991;0.997;0.994|.	T|.	0.74250|.	-0.3726|.	10|.	0.62326|.	D|.	0.03|.	-25.6707|-25.6707	20.547|20.547	0.99278|0.99278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1821;1644;1843;1821|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	Q|S	1821;1843;1821;1644;435;443|715	ENSP00000446132:E1821Q;ENSP00000381007:E1843Q;ENSP00000228327:E1821Q;ENSP00000266692:E1644Q;ENSP00000448303:E443Q|.	ENSP00000228327:E1821Q|.	E|X	+|+	1|2	0|2	NAV3|NAV3	77098791|77098791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.476000|9.476000	0.97823|0.97823	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GAA|TGA	NAV3	-	NULL	ENSG00000067798		0.393	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	54	0	G	NM_001024383		78574660	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	14.63	35	6	SNP	1.000	C	C	78574660	G	C	78574660	3	2	126	1	0	0	0	0	1	0	0	0	10223	1291	45	5	5575	5	NAV3	12	78574660	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	5802881	78574660	55277235	201	32619											
POLR3B	55703	genome.wustl.edu	37	chr12	106827518	106827518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacatcttaggtgtcattcGagaccacaaaaagctagtga	15	10	8	8	1	2	2	1	1	1	1	3	3	2	2	1	1	2	1	1	1	5	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:106827518G>T	ENST00000228347.4	+	16	1871	c.1649G>T	c.(1648-1650)cGa>cTa	p.R550L	POLR3B_ENST00000539066.1_Missense_Mutation_p.R492L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	550					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)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.R550Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTGTCATTCGAGACCACAAA	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											106	103	104					12																	106827518		2203	4300	6503	SO:0001583	missense	0			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1649G>T	12.37:g.106827518G>T	ENSP00000228347:p.Arg550Leu		A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.R550L	ENST00000228347.4	37	c.1649	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046473	0.75846	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.77750	-1.12;-1.12	6.03	6.03	0.97812	RNA polymerase Rpb2, domain 4 (1);	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	M	0.67397	2.05	0.80722	D	1	B	0.12630	0.006	B	0.22753	0.041	T	0.73757	-0.3882	10	0.54805	T	0.06	-11.3506	20.5666	0.99351	0.0:0.0:1.0:0.0	.	550	Q9NW08	RPC2_HUMAN	L	550;550;492	ENSP00000228347:R550L;ENSP00000445721:R492L	ENSP00000228347:R550L	R	+	2	0	POLR3B	105351648	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.588000	0.82629	2.854000	0.98071	0.655000	0.94253	CGA	POLR3B	-	pfam_RNA_pol_Rpb2_4	ENSG00000013503		0.328	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1		0	91	0	G	NM_018082		106827518	1			no_errors	ENST00000228347	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	106827518	G	T	106827518	3	4	126	1	0	0	0	0	1	0	0	0	12268	1058	37	2	1711	2	POLR3B	12	106827518	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	28252858	106827518	27024377	202	32620											
NOC4L	79050	genome.wustl.edu	37	chr12	132629489	132629489	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagagctgtttgtgggcCagctgccctctgaggagatg	6	9	18	8	0	1	3	0	1	1	2	1	5	1	3	2	4	3	3	2	4	0	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:132629489C>T	ENST00000330579.1	+	2	249	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	DDX51_ENST00000397333.3_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	70					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)		GTTTGTGGGCCAGCTGCCCTC	0.637																																																	0													42	38	39					12																	132629489		2186	4291	6477	SO:0001587	stop_gained	0				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.208C>T	12.37:g.132629489C>T	ENSP00000328854:p.Gln70*		Q8N2S5|Q96I14	Nonsense_Mutation	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.Q70*	ENST00000330579.1	37	c.208	CCDS9277.1	12	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184226	0.57800	.	.	ENSG00000184967	ENST00000330579	.	.	.	4.59	2.71	0.32032	.	0.952132	0.08802	N	0.891587	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7149	5.7896	0.18353	0.3394:0.5665:0.0:0.0941	.	.	.	.	X	70	.	ENSP00000328854:Q70X	Q	+	1	0	NOC4L	131195442	0.130000	0.22417	0.145000	0.22337	0.147000	0.21601	1.477000	0.35431	0.335000	0.23614	0.491000	0.48974	CAG	NOC4L	-	superfamily_ARM-type_fold	ENSG00000184967		0.637	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC4L	HGNC	protein_coding	OTTHUMT00000398999.1	-	0	54	0	C	NM_024078		132629489	1	tier1	-	no_errors	ENST00000330579	ensembl	human	known	74_37	nonsense	18.18	18	4	SNP	0.003	T	T	132629489	C	T	132629489	4	4	126	1	0	0	0	0	0	1	0	0	10554	595	21	3	214	3	NOC4L	12	132629489	Nonsense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	25801971	132629489	1222406	203	32621											
GOLGA3	2802	genome.wustl.edu	37	chr12	133372506	133372506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacgtttcctcggtaccttCttccaagcgtcttgctcctc	4	14	7	16	4	2	0	0	0	2	0	7	1	5	0	4	1	3	3	4	1	2	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:133372506C>T	ENST00000450791.2	-	10	2584	c.2401G>A	c.(2401-2403)Gaa>Aaa	p.E801K	GOLGA3_ENST00000537452.1_Missense_Mutation_p.E801K|GOLGA3_ENST00000204726.3_Missense_Mutation_p.E801K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E801K|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E801K			Q08378	GOGA3_HUMAN	golgin A3	801					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)		TCGGTACCTTCTTCCAAGCGT	0.488																																																	0													104	104	104					12																	133372506		2203	4300	6503	SO:0001583	missense	0			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.2401G>A	12.37:g.133372506C>T	ENSP00000410378:p.Glu801Lys		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E801K	ENST00000450791.2	37	c.2401	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435108	0.62955	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.35789	1.75;1.75;1.76;1.29;1.29	5.32	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.995;0.995;0.999	T	0.53528	-0.8426	10	0.24483	T	0.36	.	14.362	0.66779	0.0:0.927:0.0:0.073	.	801;801;801	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	K	801	ENSP00000204726:E801K;ENSP00000410378:E801K;ENSP00000409303:E801K;ENSP00000442143:E801K;ENSP00000442603:E801K	ENSP00000204726:E801K	E	-	1	0	GOLGA3	131882579	1.000000	0.71417	0.086000	0.20670	0.011000	0.07611	6.084000	0.71335	2.503000	0.84419	0.655000	0.94253	GAA	GOLGA3	-	NULL	ENSG00000090615		0.488	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	-	0	41	0	C	NM_005895		133372506	-1	tier1	-	no_errors	ENST00000204726	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	T	T	133372506	C	T	133372506	3	4	126	1	0	0	0	0	1	0	0	0	6580	922	32	3	2289	3	GOLGA3	12	133372506	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	743017	133372506	479389	204	32622											
ZNF10	7556	genome.wustl.edu	37	chr12	133732691	133732691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactaggcatcagcttattCatactggagaaaaaccctat	14	12	6	9	0	2	1	2	0	0	1	2	2	2	1	1	2	4	2	1	2	7	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr12:133732691C>A	ENST00000248211.6	+	5	1081	c.859C>A	c.(859-861)Cat>Aat	p.H287N	ZNF10_ENST00000426665.2_Missense_Mutation_p.H287N|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.H153N	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	287					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCAGCTTATTCATACTGGAGA	0.418																																																	0													66	73	71					12																	133732691		2203	4299	6502	SO:0001583	missense	0			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"Zinc fingers, C2H2-type", "-"	12879	protein-coding gene	gene with protein product		194538	"zinc finger protein 10 (KOX 1)"			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.859C>A	12.37:g.133732691C>A	ENSP00000248211:p.His287Asn		B2RBS1|Q8TC91	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H287N	ENST00000248211.6	37	c.859	CCDS9283.1	12	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963982	0.74131	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.67345	-0.26;-0.26;-0.26	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40640	N	0.001044	D	0.83658	0.5302	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86980	0.2103	9	.	.	.	.	15.2497	0.73536	0.0:1.0:0.0:0.0	.	287	P21506	ZNF10_HUMAN	N	287;287;153	ENSP00000248211:H287N;ENSP00000393814:H287N;ENSP00000384893:H153N	.	H	+	1	0	ZNF10	132242764	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.302000	0.65733	2.199000	0.70637	0.591000	0.81541	CAT	ZNF10	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256223		0.418	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF10	HGNC	protein_coding	OTTHUMT00000397182.1		0	77	0	C	NM_015394		133732691	1			no_errors	ENST00000248211	ensembl	human	known	74_37	missense	6.06	30	2	SNP	1.000	A	A	133732691	C	A	133732691	3	1	126	1	0	0	0	0	1	0	0	0	17760	826	29	3	873	3	ZNF10	12	133732691	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	360185	133732691	119204	205	32623											
LATS2	26524	genome.wustl.edu	37	chr13	21562128	21562128	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttaaaggcgtatggcgaGtagctcttgatgcgtgactc	10	11	12	8	3	1	2	0	2	1	0	2	3	1	2	0	2	3	3	0	2	5	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr13:21562128G>T	ENST00000382592.4	-	4	2196	c.1791C>A	c.(1789-1791)taC>taA	p.Y597*	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Nonsense_Mutation_p.Y597*	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)		CGTATGGCGAGTAGCTCTTGA	0.498																																																	0													261	264	263					13																	21562128		2203	4300	6503	SO:0001587	stop_gained	0			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.1791C>A	13.37:g.21562128G>T	ENSP00000372035:p.Tyr597*			Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.Y597*	ENST00000382592.4	37	c.1791	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	G	42	9.189821	0.99094	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	.	.	.	5.12	3.4	0.38934	.	0.096906	0.45361	D	0.000370	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3923	0.49822	0.1454:0.0:0.8546:0.0	.	.	.	.	X	597	.	ENSP00000372035:Y597X	Y	-	3	2	LATS2	20460128	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.537000	0.36083	0.772000	0.33382	-0.274000	0.10170	TAC	LATS2	-	NULL	ENSG00000150457		0.498	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	-	0	104	0	G			21562128	-1	tier1	-	no_errors	ENST00000382592	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	1.000	T	T	21562128	G	T	21562128	4	4	126	1	0	0	0	0	0	1	0	0	8675	1024	36	3	1495	3	LATS2	13	21562128	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		21562128	93607750	206	32624											
PARP4	143	genome.wustl.edu	37	chr13	25009294	25009294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgtgagcgcgggcagtcgGgggaagataggaaccaacgg	11	4	18	8	4	0	2	0	1	0	1	1	4	0	4	1	5	3	1	1	5	4	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr13:25009294G>T	ENST00000381989.3	-	31	4090	c.3985C>A	c.(3985-3987)Ccg>Acg	p.P1329T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1329					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CGGGCAGTCGGGGGAAGATAG	0.488																																																	0													84	91	89					13																	25009294		2203	4300	6503	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3985C>A	13.37:g.25009294G>T	ENSP00000371419:p.Pro1329Thr		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.P1329T	ENST00000381989.3	37	c.3985	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	g	0.036	-1.305651	0.01353	.	.	ENSG00000102699	ENST00000381989	T	0.01854	4.6	2.24	0.323	0.15893	.	27.309900	0.00757	U	0.001115	T	0.01730	0.0055	N	0.14661	0.345	0.09310	N	1	B	0.18968	0.032	B	0.18871	0.023	T	0.45056	-0.9287	10	0.18710	T	0.47	.	3.4381	0.07453	0.1787:0.3018:0.5195:0.0	.	1329	Q9UKK3	PARP4_HUMAN	T	1329	ENSP00000371419:P1329T	ENSP00000371419:P1329T	P	-	1	0	PARP4	23907294	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.632000	0.24583	-0.096000	0.12329	0.313000	0.20887	CCG	PARP4	-	NULL	ENSG00000102699		0.488	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	-	0	84	0	G	NM_006437		25009294	-1	tier1	-	no_errors	ENST00000381989	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.000	T	T	25009294	G	T	25009294	3	4	126	1	0	0	0	0	1	0	0	0	11502	1232	43	3	1205	3	PARP4	13	25009294	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	3447166	25009294	90160584	207	32625											
N4BP2L1	90634	genome.wustl.edu	37	chr13	32978401	32978401	+	Intron	SNP	T	T	A	0	1	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	aaagattcttttgttcggtcTgaaatacctgaaaatagcag	14	13	8	6	1	2	3	0	2	2	1	3	3	2	3	1	1	2	2	1	1	6	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr13:32978401T>A	ENST00000380133.2	-	4	524				N4BP2L1_ENST00000459716.1_Intron|N4BP2L1_ENST00000380130.2_Intron|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.Q135L|N4BP2L1_ENST00000530622.2_Intron			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TTGTTCGGTCTGAAATACCTG	0.363																																																	0													91	87	89					13																	32978401		2203	4300	6503	SO:0001627	intron_variant	0			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.473+56A>T	13.37:g.32978401T>A			A4QN21|Q5TBK0	Missense_Mutation	SNP	pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase	p.Q135L	ENST00000380133.2	37	c.404	CCDS9345.2	13	.	.	.	.	.	.	.	.	.	.	T	16.32	3.088894	0.55968	.	.	ENSG00000139597	ENST00000380139	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	T	0.52092	0.1713	.	.	.	0.80722	D	1	P	0.35139	0.486	B	0.36922	0.236	T	0.56007	-0.8050	7	0.56958	D	0.05	.	11.2124	0.48806	0.0:0.0:0.1528:0.8472	.	135	Q5TBK1-2	.	L	135	.	ENSP00000369484:Q135L	Q	-	2	0	N4BP2L1	31876401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.496000	0.53288	2.193000	0.70182	0.533000	0.62120	CAG	N4BP2L1	-	NULL	ENSG00000139597		0.363	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	N4BP2L1	HGNC	protein_coding	OTTHUMT00000044412.2	-	0	101	0	T	NM_052818		32978401	-1	tier1	-	no_errors	ENST00000380139	ensembl	human	novel	74_37	missense	64.71	18	33	SNP	0.998	A	A	32978401	T	A	32978401	1	1	126	0	1	0	0	0	0	0	0	0	10149	1580	55	5		5	N4BP2L1	13	32978401	Intron	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09	7969107	32978401	82191477	208	32626											
NHLRC3	387921	genome.wustl.edu	37	chr13	39621263	39621263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatggaataattgtttCacagaagagggaccttcttc	12	11	11	7	0	2	2	1	0	1	2	3	5	2	5	1	3	1	2	1	3	3	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr13:39621263C>A	ENST00000379600.3	+	6	1087	c.765C>A	c.(763-765)ttC>ttA	p.F255L	NHLRC3_ENST00000470258.1_Missense_Mutation_p.F58L|NHLRC3_ENST00000379599.2_Missense_Mutation_p.F188L	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	255						extracellular vesicular exosome (GO:0070062)		p.F255F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ATAATTGTTTCACAGAAGAGG	0.393																																																	1	Substitution - coding silent(1)	lung(1)											139	139	139					13																	39621263		2203	4300	6503	SO:0001583	missense	0				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.765C>A	13.37:g.39621263C>A	ENSP00000368920:p.Phe255Leu		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	p.F255L	ENST00000379600.3	37	c.765	CCDS31961.1	13	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852959	0.71719	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	D;D;D	0.89343	-2.5;-2.5;-2.5	5.58	3.87	0.44632	Six-bladed beta-propeller, TolB-like (1);	0.049726	0.85682	D	0.000000	D	0.92322	0.7564	M	0.65498	2.005	0.37054	D	0.897749	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	D	0.92184	0.5754	9	.	.	.	-20.3162	9.2144	0.37337	0.0:0.7541:0.0:0.2459	.	188;255	B4DTL0;Q5JS37	.;NHLC3_HUMAN	L	58;255;188	ENSP00000418127:F58L;ENSP00000368920:F255L;ENSP00000368919:F188L	.	F	+	3	2	NHLRC3	38519263	0.706000	0.27856	0.998000	0.56505	0.996000	0.88848	0.863000	0.27913	0.841000	0.35020	0.563000	0.77884	TTC	NHLRC3	-	NULL	ENSG00000188811		0.393	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	HGNC	protein_coding	OTTHUMT00000044616.2		0	122	0	C	NM_001012754		39621263	1			no_errors	ENST00000379600	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	A	A	39621263	C	A	39621263	3	1	126	1	0	0	0	0	1	0	0	0	10446	825	29	3	787	3	NHLRC3	13	39621263	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	6642862	39621263	75548615	209	32627											
EBPL	84650	genome.wustl.edu	37	chr13	50235205	50235205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcagaacccacacacCgttaaaaaaaaacaggtaaa	20	5	7	9	1	1	1	1	0	0	1	1	2	1	2	2	2	2	2	2	2	8	2	rs200901347		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr13:50235205C>A	ENST00000242827.6	-	4	570	c.520G>T	c.(520-522)Ggt>Tgt	p.G174C	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	174					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			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)		ACCCACACACCGTTAAAAAAA	0.488																																					NSCLC(39;857 1083 36109 42364 51411)												0													64	62	62					13																	50235205		2203	4300	6503	SO:0001583	missense	0			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.520G>T	13.37:g.50235205C>A	ENSP00000242827:p.Gly174Cys		A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	pfam_EBP	p.G174C	ENST00000242827.6	37	c.520	CCDS9420.1	13	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656866	0.47467	.	.	ENSG00000123179	ENST00000242827	D	0.98150	-4.75	5.61	3.77	0.43336	.	0.147928	0.64402	D	0.000015	D	0.98340	0.9449	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97567	1.0102	10	0.38643	T	0.18	-18.6412	11.2218	0.48860	0.0:0.8765:0.0:0.1235	.	174	Q9BY08	EBPL_HUMAN	C	174	ENSP00000242827:G174C	ENSP00000242827:G174C	G	-	1	0	EBPL	49133206	1.000000	0.71417	0.904000	0.35570	0.430000	0.31655	3.667000	0.54547	0.716000	0.32124	0.650000	0.86243	GGT	EBPL	-	pfam_EBP	ENSG00000123179		0.488	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EBPL	HGNC	protein_coding	OTTHUMT00000044932.2		0	66	0	C	NM_032565		50235205	-1			no_errors	ENST00000242827	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	50235205	C	A	50235205	3	1	126	1	0	0	0	0	1	0	0	0	4901	652	23	2	104	2	EBPL	13	50235205	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	10613942	50235205	64934673	210	32628											
RBM26	64062	genome.wustl.edu	37	chr13	79915342	79915342	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttatataaatccagttctgtGtcaagtaattccttctgcat	11	17	5	8	0	3	0	1	0	2	0	5	0	5	0	2	0	1	3	2	0	6	7	rs537025965		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr13:79915342G>T	ENST00000438737.2	-	18	2888	c.2448C>A	c.(2446-2448)gaC>gaA	p.D816E	RBM26_ENST00000438724.1_Missense_Mutation_p.D792E|RBM26_ENST00000267229.7_Missense_Mutation_p.D789E			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	816					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CCAGTTCTGTGTCAAGTAATT	0.308																																																	0													119	109	113					13																	79915342		2202	4298	6500	SO:0001583	missense	0			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2448C>A	13.37:g.79915342G>T	ENSP00000387531:p.Asp816Glu		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.D792E	ENST00000438737.2	37	c.2376		13	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735868	0.69189	.	.	ENSG00000139746	ENST00000449987;ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.46063	0.88;0.88	5.3	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	M	0.84326	2.69	0.54753	D	0.999983	D;P;P;P	0.64830	0.994;0.935;0.893;0.935	D;P;B;P	0.72625	0.978;0.648;0.446;0.648	T	0.64984	-0.6278	9	.	.	.	-12.0226	8.1133	0.30928	0.1836:0.0:0.8164:0.0	.	173;792;816;789	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	E	2;789;817;816;792	ENSP00000267229:D789E;ENSP00000390222:D792E	.	D	-	3	2	RBM26	78813343	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.142000	0.31540	2.477000	0.83638	0.650000	0.86243	GAC	RBM26	-	NULL	ENSG00000139746		0.308	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4		0	54	0	G	NM_022118		79915342	-1			no_errors	ENST00000438724	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	79915342	G	T	79915342	3	4	126	1	0	0	0	0	1	0	0	0	13171	1368	48	3	595	3	RBM26	13	79915342	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	29680137	79915342	35254536	211	32629											
FARP1	10160	genome.wustl.edu	37	chr13	99063029	99063029	+	Silent	SNP	G	G	T	0	0	1	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	tacttcatagctaaggaagtGtctaccaccgagcgaacata	14	9	8	10	2	2	0	1	0	1	0	2	3	2	1	2	1	5	1	2	1	7	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr13:99063029G>T	ENST00000319562.6	+	15	1909	c.1644G>T	c.(1642-1644)gtG>gtT	p.V548V	FARP1_ENST00000595437.1_Silent_p.V548V|FARP1_ENST00000376586.2_Silent_p.V548V	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	548	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTAAGGAAGTGTCTACCACCG	0.408																																																	0													140	119	126					13																	99063029		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1644G>T	13.37:g.99063029G>T			Q5JVI9|Q6IQ29	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.V548	ENST00000319562.6	37	c.1644	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	G	0.242	-1.012680	0.02095	.	.	ENSG00000152767	ENST00000457029	.	.	.	5.79	-11.6	0.00059	.	.	.	.	.	T	0.40815	0.1132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52646	-0.8548	4	.	.	.	.	5.2672	0.15605	0.1106:0.3277:0.3776:0.1841	.	.	.	.	F	77	.	.	C	+	2	0	FARP1	97861030	0.001000	0.12720	0.068000	0.19968	0.027000	0.11550	-1.782000	0.01772	-3.425000	0.00166	-0.302000	0.09304	TGT	FARP1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000152767		0.408	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	-	0	65	0	G	NM_005766		99063029	1	tier1	-	no_errors	ENST00000376586	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.023	T	T	99063029	G	T	99063029	2	4	126	1	0	0	0	0	0	0	0	1	5698	1364	48	3		3	FARP1	13	99063029	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	19147687	99063029	16106849	212	32630											
MDGA2	161357	genome.wustl.edu	37	chr14	47770688	47770688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggatagtgtagaccctttCggagtagcgctcctcttcaa	8	11	10	12	3	2	1	1	0	1	1	4	3	3	3	3	2	1	3	3	2	4	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr14:47770688C>T	ENST00000399232.2	-	2	503	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000472499.2_5'UTR|MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.E116K	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	47	Ig-like 1.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TAGACCCTTTCGGAGTAGCGC	0.522																																																	0													154	143	146					14																	47770688		692	1591	2283	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.139G>A	14.37:g.47770688C>T	ENSP00000382178:p.Glu47Lys		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.E116K	ENST00000399232.2	37	c.346		14	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816018	0.70912	.	.	ENSG00000139915	ENST00000439988;ENST00000399232;ENST00000486952	T;T;T	0.52057	0.68;0.68;0.68	5.2	5.2	0.72013	Immunoglobulin-like (1);	0.000000	0.35708	U	0.003034	T	0.59851	0.2224	L	0.33668	1.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61342	-0.7082	10	0.56958	D	0.05	.	17.7007	0.88293	0.0:1.0:0.0:0.0	.	47	Q7Z553	MDGA2_HUMAN	K	47;116;71	ENSP00000400011:E47K;ENSP00000382178:E116K;ENSP00000452515:E71K	ENSP00000382178:E116K	E	-	1	0	MDGA2	46840438	1.000000	0.71417	0.902000	0.35471	0.012000	0.07955	7.471000	0.80985	2.591000	0.87537	0.650000	0.86243	GAA	MDGA2	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000272781		0.522	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	54	0	C	NM_182830		47770688	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	T	T	47770688	C	T	47770688	3	4	126	1	0	0	0	0	1	0	0	0	9445	893	31	1	2795	1	MDGA2	14	47770688	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09		47770688	59578852	213	32631											
C14orf104	55172	genome.wustl.edu	37	chr14	50094817	50094817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagactgtttgaatggagaGctcaggacctcttcaagaaa	14	10	10	7	0	3	4	2	1	1	3	3	6	3	5	1	2	1	2	1	2	4	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr14:50094817G>T	ENST00000298292.8	-	2	2000	c.1920C>A	c.(1918-1920)agC>agA	p.S640R	RP11-649E7.7_ENST00000556657.1_RNA|DNAAF2_ENST00000406043.3_Intron	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	640					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TGAATGGAGAGCTCAGGACCT	0.333																																																	0													55	53	54					14																	50094817		2201	4299	6500	SO:0001583	missense	0			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1920C>A	14.37:g.50094817G>T	ENSP00000298292:p.Ser640Arg		B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	pfam_PIH	p.S640R	ENST00000298292.8	37	c.1920	CCDS9691.2	14	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768458	0.31320	.	.	ENSG00000165506	ENST00000298292	T	0.15603	2.41	5.47	3.6	0.41247	.	0.813983	0.10857	N	0.626547	T	0.12263	0.0298	N	0.19112	0.55	0.25716	N	0.985426	B	0.15473	0.013	B	0.14023	0.01	T	0.21211	-1.0252	10	0.30078	T	0.28	.	11.8753	0.52544	0.15:0.0:0.85:0.0	.	640	Q9NVR5	KTU_HUMAN	R	640	ENSP00000298292:S640R	ENSP00000298292:S640R	S	-	3	2	DNAAF2	49164567	0.544000	0.26441	0.568000	0.28447	0.983000	0.72400	1.513000	0.35823	1.434000	0.47414	0.558000	0.71614	AGC	DNAAF2	-	NULL	ENSG00000165506		0.333	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1		0	106	0	G			50094817	-1			no_errors	ENST00000298292	ensembl	human	known	74_37	missense	5.56	67	4	SNP	0.183	T	T	50094817	G	T	50094817	3	4	126	1	0	0	0	0	1	0	0	0	1741	962	34	3	601	3	C14orf104	14	50094817	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2324129	50094817	57254723	214	32632											
LGALS3	3958	genome.wustl.edu	37	chr14	55604782	55604782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctccatgatgcgttatctgGgtctggaaacccaaaccctc	9	10	9	13	1	2	1	0	1	2	0	4	2	3	2	3	2	3	2	3	2	3	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr14:55604782G>T	ENST00000254301.9	+	3	299	c.38G>T	c.(37-39)gGg>gTg	p.G13V	LGALS3_ENST00000554715.1_Missense_Mutation_p.G13V|LGALS3_ENST00000553755.1_3'UTR	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	13					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						GCGTTATCTGGGTCTGGAAAC	0.527																																																	0													43	44	44					14																	55604782		1875	4108	5983	SO:0001583	missense	0			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.38G>T	14.37:g.55604782G>T	ENSP00000254301:p.Gly13Val		B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.G13V	ENST00000254301.9	37	c.38	CCDS41956.1	14	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148930	0.57151	.	.	ENSG00000131981	ENST00000553493;ENST00000254301;ENST00000554715	T;T;T	0.55588	0.51;3.54;2.6	5.31	5.31	0.75309	.	0.402261	0.25456	N	0.030541	T	0.71879	0.3392	M	0.70595	2.14	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.74645	-0.3596	10	0.72032	D	0.01	-1.5769	15.9006	0.79373	0.0:0.0:1.0:0.0	.	13	P17931	LEG3_HUMAN	V	13	ENSP00000451526:G13V;ENSP00000254301:G13V;ENSP00000451381:G13V	ENSP00000254301:G13V	G	+	2	0	LGALS3	54674535	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.321000	0.65846	2.466000	0.83321	0.655000	0.94253	GGG	LGALS3	-	NULL	ENSG00000131981		0.527	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3	HGNC	protein_coding	OTTHUMT00000411309.1	-	0	43	0	G	NM_002306		55604782	1	tier1	-	no_errors	ENST00000254301	ensembl	human	known	74_37	missense	13.33	25	4	SNP	1.000	T	T	55604782	G	T	55604782	3	4	126	1	0	0	0	0	1	0	0	0	8771	1232	43	3	44	3	LGALS3	14	55604782	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	5509965	55604782	51744758	215	32633											
C14orf39	317761	genome.wustl.edu	37	chr14	60950412	60950412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcaaatactcactttCtacagttgtctttaatctcc	9	19	2	11	0	6	0	2	0	4	0	7	0	6	0	1	0	2	1	1	0	4	8			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr14:60950412C>A	ENST00000321731.3	-	4	389	c.230G>T	c.(229-231)aGa>aTa	p.R77I		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	77					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)		TACTCACTTTCTACAGTTGTC	0.294																																																	0													125	112	117					14																	60950412		2199	4297	6496	SO:0001583	missense	0			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.230G>T	14.37:g.60950412C>A	ENSP00000324920:p.Arg77Ile		Q08AQ4	Missense_Mutation	SNP	NULL	p.R77I	ENST00000321731.3	37	c.230	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752439	0.31046	.	.	ENSG00000179008	ENST00000321731;ENST00000555476;ENST00000556799	T;T	0.41758	1.97;0.99	5.73	-1.5	0.08691	.	0.514295	0.20878	N	0.084052	T	0.12433	0.0302	N	0.02539	-0.55	0.35848	D	0.826542	B	0.06786	0.001	B	0.06405	0.002	T	0.05241	-1.0897	10	0.36615	T	0.2	.	0.6737	0.00863	0.1816:0.3146:0.2546:0.2492	.	77	Q8N1H7	S6OS1_HUMAN	I	77;48;77	ENSP00000324920:R77I;ENSP00000451665:R48I	ENSP00000324920:R77I	R	-	2	0	C14orf39	60020165	0.371000	0.25056	0.984000	0.44739	0.706000	0.40770	-0.768000	0.04715	-0.057000	0.13199	-0.150000	0.13652	AGA	C14orf39	-	NULL	ENSG00000179008		0.294	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1		0	58	0	C	NM_174978		60950412	-1			no_errors	ENST00000321731	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.977	A	A	60950412	C	A	60950412	3	1	126	1	0	0	0	0	1	0	0	0	1777	913	32	3	1593	3	C14orf39	14	60950412	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	5345630	60950412	46399128	216	32634											
SLC8A3	6547	genome.wustl.edu	37	chr14	70512793	70512793	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctcccctcccaggtgCggccgccttcggtacaagag	7	6	11	17	3	0	1	0	0	0	1	3	1	2	1	6	3	3	2	6	3	3	2	rs199883587		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr14:70512793C>A	ENST00000381269.2	-	8	3408	c.2655G>T	c.(2653-2655)ccG>ccT	p.P885P	SLC8A3_ENST00000394330.2_Silent_p.P242P|SLC8A3_ENST00000216568.7_Silent_p.P256P|SLC8A3_ENST00000528359.1_Silent_p.P883P|SLC8A3_ENST00000534137.1_Silent_p.P882P|SLC8A3_ENST00000356921.2_Silent_p.P879P|SLC8A3_ENST00000533541.1_3'UTR|SLC8A3_ENST00000357887.3_Silent_p.P883P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	885					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)	p.P885P(1)		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)		CTCCCAGGTGCGGCCGCCTTC	0.597											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	large_intestine(1)											31	31	31					14																	70512793		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2655G>T	14.37:g.70512793C>A		1122	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.P885	ENST00000381269.2	37	c.2655	CCDS35498.1	14																																																																																			SLC8A3	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex	ENSG00000100678		0.597	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	HGNC	protein_coding	OTTHUMT00000390736.1		0	59	0	C			70512793	-1			no_errors	ENST00000381269	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.981	A	A	70512793	C	A	70512793	2	1	126	1	0	0	0	0	0	0	0	1	14753	755	27	2		2	SLC8A3	14	70512793	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	9562381	70512793	36836747	217	32635											
YLPM1	56252	genome.wustl.edu	37	chr14	75265542	75265542	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatggtggggaaaaaatgtAtccatatcaccgggatgagc	14	8	13	6	1	1	2	1	1	0	1	2	4	2	4	2	4	1	1	2	4	5	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr14:75265542A>G	ENST00000325680.7	+	5	3666	c.3542A>G	c.(3541-3543)tAt>tGt	p.Y1181C	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.Y986C	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	986	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)		GAAAAAATGTATCCATATCAC	0.507																																																	0													65	66	66					14																	75265542		1921	4120	6041	SO:0001583	missense	0			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.3542A>G	14.37:g.75265542A>G	ENSP00000324463:p.Tyr1181Cys		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.Y1181C	ENST00000325680.7	37	c.3542	CCDS45135.1	14	.	.	.	.	.	.	.	.	.	.	A	7.005	0.555725	0.13436	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.66	3.12	0.35913	.	0.421745	0.22557	N	0.058504	T	0.31544	0.0800	N	0.22421	0.69	0.26028	N	0.981778	P	0.37548	0.599	B	0.39379	0.298	T	0.13737	-1.0498	9	0.38643	T	0.18	-3.8837	13.6138	0.62094	0.6795:0.3205:0.0:0.0	.	1181	P49750-4	.	C	1181;986;894	.	ENSP00000238571:Y986C	Y	+	2	0	YLPM1	74335295	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	2.346000	0.44027	0.959000	0.37980	0.450000	0.29827	TAT	YLPM1	-	NULL	ENSG00000119596		0.507	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404451.1	-	0	91	0	A	NM_019589		75265542	1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	missense	27.94	49	19	SNP	0.996	G	G	75265542	A	G	75265542	3	3	126	1	0	0	0	0	1	0	0	0	17535	449	16	4	3560	4	YLPM1	14	75265542	Missense_Mutation	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	4752749	75265542	32083998	218	32636											
CCNK	8812	genome.wustl.edu	37	chr14	99969314	99969314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctccccgacaggttaagcGagccgtggtgagtgggctaa	8	9	14	10	3	1	1	0	1	1	0	2	3	1	1	3	3	2	2	3	3	2	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr14:99969314G>A	ENST00000389879.5	+	8	1127	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	CCNK_ENST00000555049.1_Missense_Mutation_p.R335Q	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	335					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CAGGTTAAGCGAGCCGTGGTG	0.622																																																	0													75	96	89					14																	99969314		2039	4200	6239	SO:0001583	missense	0			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.1004G>A	14.37:g.99969314G>A	ENSP00000374529:p.Arg335Gln		Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R335Q	ENST00000389879.5	37	c.1004	CCDS45160.1	14	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159235	0.21454	.	.	ENSG00000090061	ENST00000437596;ENST00000380246;ENST00000389879;ENST00000555049	T;D	0.91686	2.22;-2.89	5.95	5.05	0.67936	.	0.136363	0.49916	D	0.000139	D	0.89054	0.6606	L	0.51422	1.61	0.52099	D	0.999945	B	0.13145	0.007	B	0.09377	0.004	D	0.84144	0.0419	10	0.27785	T	0.31	-17.5291	15.5679	0.76309	0.0669:0.0:0.9331:0.0	.	335	O75909	CCNK_HUMAN	Q	335;337;335;335	ENSP00000374529:R335Q;ENSP00000452307:R335Q	ENSP00000369596:R337Q	R	+	2	0	CCNK	99039067	1.000000	0.71417	0.215000	0.23724	0.101000	0.19017	6.647000	0.74354	2.824000	0.97209	0.655000	0.94253	CGA	CCNK	-	NULL	ENSG00000090061		0.622	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNK	HGNC	protein_coding	OTTHUMT00000413721.1	-	0	77	0	G			99969314	1	tier1	-	no_errors	ENST00000389879	ensembl	human	known	74_37	missense	29.31	40	17	SNP	0.969	A	A	99969314	G	A	99969314	3	1	126	1	0	0	0	0	1	0	0	0	2937	1058	37	1	1030	1	CCNK	14	99969314	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	24703772	99969314	7380226	219	32637											
EML1	2009	genome.wustl.edu	37	chr14	100361061	100361061	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcttggaagcaaaagtaGaacttccaaccaagagactc	17	6	8	10	0	0	2	0	0	0	2	2	4	1	3	2	1	4	3	2	1	7	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr14:100361061G>T	ENST00000262233.6	+	6	782	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	EML1_ENST00000327921.9_Nonsense_Mutation_p.E203*|EML1_ENST00000334192.4_Nonsense_Mutation_p.E234*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	215	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGCAAAAGTAGAACTTCCAAC	0.398																																																	0													113	101	105					14																	100361061		2203	4300	6503	SO:0001587	stop_gained	0			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.643G>T	14.37:g.100361061G>T	ENSP00000262233:p.Glu215*		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Nonsense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E234*	ENST00000262233.6	37	c.700	CCDS32155.1	14	.	.	.	.	.	.	.	.	.	.	G	49	14.958168	0.99817	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714	.	.	.	5.32	5.32	0.75619	.	0.298968	0.40728	N	0.001038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-27.697	18.9766	0.92740	0.0:0.0:1.0:0.0	.	.	.	.	X	202;203;215;234;234;184	.	ENSP00000262233:E215X	E	+	1	0	EML1	99430814	1.000000	0.71417	0.049000	0.19019	0.998000	0.95712	9.869000	0.99810	2.471000	0.83476	0.585000	0.79938	GAA	EML1	-	pfam_HELP,superfamily_Quinonprotein_ADH-like_supfam	ENSG00000066629		0.398	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	HGNC	protein_coding	OTTHUMT00000413943.1		0	104	0	G	NM_001008707		100361061	1			no_errors	ENST00000334192	ensembl	human	known	74_37	nonsense	5.00	76	4	SNP	1.000	T	T	100361061	G	T	100361061	4	4	126	1	0	0	0	0	0	1	0	0	5112	943	33	3	726	3	EML1	14	100361061	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	391747	100361061	6988479	220	32638											
TJP1	7082	genome.wustl.edu	37	chr15	30058538	30058538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctggaagccactgaccGcctgtctgaccgcggggaca	7	6	14	14	3	1	2	0	2	1	0	1	4	1	4	4	4	1	1	4	4	1	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr15:30058538G>A	ENST00000346128.6	-	5	994	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	TJP1_ENST00000545208.2_Missense_Mutation_p.R174W|TJP1_ENST00000400011.2_Missense_Mutation_p.R178W|TJP1_ENST00000495972.2_Missense_Mutation_p.R174W|TJP1_ENST00000356107.6_Missense_Mutation_p.R174W	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	174					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)		GCCACTGACCGCCTGTCTGAC	0.507																																					Melanoma(77;681 1843 6309 6570)												0													95	99	98					15																	30058538		1955	4150	6105	SO:0001583	missense	0				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.520C>T	15.37:g.30058538G>A	ENSP00000281537:p.Arg174Trp		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.R174W	ENST00000346128.6	37	c.520	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000460	0.74818	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.59	4.59	0.56863	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.987;0.998;0.999	T	0.57797	-0.7749	9	.	.	.	.	13.2122	0.59832	0.0:0.0:0.725:0.275	.	167;174;174;178	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	W	174;178;174;174;174	ENSP00000281537:R174W;ENSP00000382890:R178W;ENSP00000441202:R174W;ENSP00000348416:R174W	.	R	-	1	2	TJP1	27845830	1.000000	0.71417	0.521000	0.27850	0.806000	0.45545	3.715000	0.54897	2.630000	0.89119	0.655000	0.94253	CGG	TJP1	-	superfamily_PDZ	ENSG00000104067		0.507	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	-	0	59	0	G	NM_003257		30058538	-1	tier1	-	no_errors	ENST00000346128	ensembl	human	known	74_37	missense	56.14	25	32	SNP	1.000	A	A	30058538	G	A	30058538	3	1	126	1	0	0	0	0	1	0	0	0	15976	1086	38	1	4822	1	TJP1	15	30058538	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		30058538	72472854	221	32639											
AQR	9716	genome.wustl.edu	37	chr15	35210573	35210573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaattcgacgttcatgacGagatacctaaaataaaggaa	19	8	8	6	3	1	3	1	1	0	2	2	6	1	4	1	1	1	1	1	1	7	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr15:35210573G>T	ENST00000156471.5	-	15	1453	c.1228C>A	c.(1228-1230)Cgt>Agt	p.R410S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	410					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R410S(1)		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)		CGTTCATGACGAGATACCTAA	0.338																																																	1	Substitution - Missense(1)	lung(1)											78	70	73					15																	35210573		1837	4090	5927	SO:0001583	missense	0			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.1228C>A	15.37:g.35210573G>T	ENSP00000156471:p.Arg410Ser		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R410S	ENST00000156471.5	37	c.1228	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718289	0.89205	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93247	-3.19	4.74	4.74	0.60224	.	0.097598	0.64402	D	0.000001	D	0.91727	0.7384	M	0.66939	2.045	0.53005	D	0.99996	P	0.42735	0.788	B	0.41466	0.358	D	0.90171	0.4235	10	0.07813	T	0.8	-13.4226	17.925	0.88980	0.0:0.0:1.0:0.0	.	410	O60306	AQR_HUMAN	S	410	ENSP00000156471:R410S	ENSP00000156471:R410S	R	-	1	0	AQR	32997865	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.572000	0.82409	2.474000	0.83562	0.491000	0.48974	CGT	AQR	-	NULL	ENSG00000021776		0.338	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2		0	55	0	G	NM_014691		35210573	-1			no_errors	ENST00000156471	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	35210573	G	T	35210573	3	4	126	1	0	0	0	0	1	0	0	0	835	1058	37	2	3313	2	AQR	15	35210573	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	5152035	35210573	67320819	222	32640											
MAPKBP1	23005	genome.wustl.edu	37	chr15	42106776	42106776	+	Missense_Mutation	SNP	A	A	G	1	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	tctctggagtggcgaatgccAggtatccagacaccattgcc	9	9	11	12	1	1	1	0	0	1	1	3	3	2	2	4	3	2	1	4	3	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr15:42106776A>G	ENST00000456763.2	+	11	1223	c.1027A>G	c.(1027-1029)Agg>Ggg	p.R343G	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R337G|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R225G|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R337G	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	343										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)		GGCGAATGCCAGGTATCCAGA	0.498																																																	0													228	190	203					15																	42106776		2203	4300	6503	SO:0001583	missense	0			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.1027A>G	15.37:g.42106776A>G	ENSP00000393099:p.Arg343Gly		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R343G	ENST00000456763.2	37	c.1027	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	a	18.32	3.597398	0.66332	.	.	ENSG00000137802	ENST00000457542;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T	0.53640	1.04;0.61;5.07;5.07	6.06	6.06	0.98353	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.144113	0.64402	D	0.000008	T	0.50274	0.1606	L	0.53249	1.67	0.36199	D	0.850594	B;P;B;B	0.37663	0.096;0.604;0.073;0.057	B;B;B;B	0.42771	0.088;0.397;0.04;0.046	T	0.55211	-0.8176	10	0.22706	T	0.39	-13.7859	16.6165	0.84917	1.0:0.0:0.0:0.0	.	225;337;343;337	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	G	337;225;343;337	ENSP00000397570:R337G;ENSP00000260357:R225G;ENSP00000393099:R343G;ENSP00000426154:R337G	ENSP00000260357:R225G	R	+	1	2	MAPKBP1	39894068	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.902000	0.75699	2.323000	0.78572	0.529000	0.55759	AGG	MAPKBP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000137802		0.498	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	-	0	82	0	A	NM_014994		42106776	1	tier1	-	no_errors	ENST00000456763	ensembl	human	known	74_37	missense	12.77	41	6	SNP	1.000	G	G	42106776	A	G	42106776	3	3	126	1	0	0	0	0	1	0	0	0	9330	179	7	4	1065	4	MAPKBP1	15	42106776	Missense_Mutation	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	6896203	42106776	60424616	223	32641											
LRRC57	255252	genome.wustl.edu	37	chr15	42840557	42840557	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcccagtctcacctcggtcaGccctcggtccttaagctgaa	7	10	8	16	2	2	1	2	1	1	0	7	1	4	1	4	2	2	1	4	2	2	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr15:42840557G>T	ENST00000323443.2	-	1	443	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	HAUS2_ENST00000260372.3_5'Flank|LRRC57_ENST00000397130.3_Missense_Mutation_p.L26M|HAUS2_ENST00000568876.1_5'Flank|HAUS2_ENST00000568846.2_5'Flank|LRRC57_ENST00000563454.1_Missense_Mutation_p.L26M			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	26						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		ACCTCGGTCAGCCCTCGGTCC	0.627																																																	0													83	67	72					15																	42840557		2203	4299	6502	SO:0001583	missense	0			AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.76C>A	15.37:g.42840557G>T	ENSP00000326817:p.Leu26Met		Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L26M	ENST00000323443.2	37	c.76	CCDS10089.1	15	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968970	0.74131	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.60299	0.2;0.2	5.03	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.74038	0.3664	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.78347	-0.2239	10	0.72032	D	0.01	.	15.366	0.74523	0.0:0.0:0.8594:0.1406	.	26	Q8N9N7	LRC57_HUMAN	M	26	ENSP00000326817:L26M;ENSP00000380319:L26M	ENSP00000326817:L26M	L	-	1	2	LRRC57	40627849	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.506000	0.60428	1.475000	0.48197	-0.152000	0.13540	CTG	LRRC57	-	NULL	ENSG00000180979		0.627	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC57	HGNC	protein_coding	OTTHUMT00000253174.1		0	93	0	G	NM_153260		42840557	-1			no_errors	ENST00000323443	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.997	T	T	42840557	G	T	42840557	3	4	126	1	0	0	0	0	1	0	0	0	9048	962	34	3	663	3	LRRC57	15	42840557	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	733781	42840557	59690835	224	32642											
CCNDBP1	23582	genome.wustl.edu	37	chr15	43481479	43481479	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgcttccaaaggatcaggGtaagccacataagtgttgca	12	11	10	8	0	1	0	1	0	0	0	2	1	2	1	2	2	3	4	2	2	3	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr15:43481479G>T	ENST00000300213.4	+	4	573		c.e4+1		CCNDBP1_ENST00000356633.5_Splice_Site|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1						cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-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;8.42e-07)		AAGGATCAGGGTAAGCCACAT	0.383																																																	0													101	84	90					15																	43481479		2203	4299	6502	SO:0001630	splice_region_variant	0			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"D-type cyclin-interacting protein 1", "MAID protein", "HHM Protein", "grap2 cyclin interacting protein"	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.331+1G>T	15.37:g.43481479G>T			A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Splice_Site	SNP	-	e4+1	ENST00000300213.4	37	c.331+1	CCDS10092.1	15	.	.	.	.	.	.	.	.	.	.	G	8.871	0.949291	0.18356	.	.	ENSG00000166946	ENST00000300213	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.152	0.81629	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNDBP1	41268771	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	5.706000	0.68362	2.749000	0.94314	0.579000	0.79373	.	CCNDBP1	-	-	ENSG00000166946		0.383	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNDBP1	HGNC	protein_coding	OTTHUMT00000253203.1		0	48	0	G	NM_012142	Intron	43481479	1			no_errors	ENST00000300213	ensembl	human	known	74_37	splice_site	7.02	53	4	SNP	1.000	T	T	43481479	G	T	43481479	5	4	126	1	0	0	0	0	0	0	1	0	2926	1275	44	3	346	3	CCNDBP1	15	43481479	Splice_Site	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	640922	43481479	59049913	225	32643											
SEMA6D	80031	genome.wustl.edu	37	chr15	48059241	48059241	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttaattcttttagaaattttGcctacttcaactacaccaga	13	16	3	9	0	2	2	1	0	1	2	2	2	2	2	2	0	4	0	2	0	6	9			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr15:48059241G>T	ENST00000316364.5	+	17	2155	c.1716G>T	c.(1714-1716)ttG>ttT	p.L572F	SEMA6D_ENST00000536845.2_Missense_Mutation_p.L572F|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000389432.2_Missense_Mutation_p.L585F|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000389433.2_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000354744.4_Missense_Mutation_p.L572F|SEMA6D_ENST00000358066.4_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	572					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TAGAAATTTTGCCTACTTCAA	0.259																																																	0													62	67	65					15																	48059241		2198	4297	6495	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1716G>T	15.37:g.48059241G>T	ENSP00000324857:p.Leu572Phe		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.L572F	ENST00000316364.5	37	c.1716	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764943	0.49574	.	.	ENSG00000137872	ENST00000536845;ENST00000316364;ENST00000389432;ENST00000354744	T;T;T;T	0.19394	2.15;2.15;2.19;2.24	5.36	5.36	0.76844	.	0.357352	0.27682	N	0.018289	T	0.23289	0.0563	L	0.48642	1.525	0.80722	D	1	B;B	0.31752	0.338;0.001	B;B	0.36244	0.22;0.013	T	0.03157	-1.1066	10	0.09843	T	0.71	.	19.3562	0.94414	0.0:0.0:1.0:0.0	.	572;572	Q8NFY4-4;Q8NFY4	.;SEM6D_HUMAN	F	572;572;585;572	ENSP00000446152:L572F;ENSP00000324857:L572F;ENSP00000374083:L585F;ENSP00000346786:L572F	ENSP00000324857:L572F	L	+	3	2	SEMA6D	45846533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.942000	0.92970	2.810000	0.96702	0.650000	0.86243	TTG	SEMA6D	-	NULL	ENSG00000137872		0.259	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	-	0	97	0	G	NM_024966		48059241	1	tier1	-	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	48059241	G	T	48059241	3	4	126	1	0	0	0	0	1	0	0	0	14087	1310	46	3	1821	3	SEMA6D	15	48059241	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4577762	48059241	54472151	226	32644											
BCL2L10	10017	genome.wustl.edu	37	chr15	52402143	52402143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaaaagccagtggaaaggGggtcctgaagaagtgacaaa	17	4	13	7	0	0	3	0	2	0	1	1	4	1	4	3	3	1	0	3	3	6	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr15:52402143G>T	ENST00000561198.1	-	2	628	c.587C>A	c.(586-588)cCc>cAc	p.P196H	BCL2L10_ENST00000260442.3_Missense_Mutation_p.P173T			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|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 apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		AGTGGAAAGGGGGTCCTGAAG	0.453																																																	0													84	93	90					15																	52402143		2195	4293	6488	SO:0001583	missense	0			AF285092	CCDS10148.1	15q21	2007-03-02			ENSG00000137875	ENSG00000137875			993	protein-coding gene	gene with protein product		606910				9829980, 9878060	Standard	NM_020396		Approved	Diva, Boo, BCL-B	uc002abq.3	Q9HD36	OTTHUMG00000131893	ENST00000561198.1:c.587C>A	15.37:g.52402143G>T	ENSP00000453562:p.Pro196His		Q3SX80|Q52LQ9|Q8TCS9	Missense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like	p.P173T	ENST00000561198.1	37	c.517		15	.	.	.	.	.	.	.	.	.	.	G	2.968	-0.213042	0.06140	.	.	ENSG00000137875	ENST00000260442	T	0.33216	1.42	3.4	0.456	0.16655	.	0.816495	0.10608	N	0.654784	T	0.16557	0.0398	N	0.24115	0.695	0.09310	N	1	P	0.44241	0.829	B	0.38378	0.272	T	0.12344	-1.0551	10	0.49607	T	0.09	.	3.6546	0.08215	0.2372:0.2083:0.5545:0.0	.	163	Q9HD36	B2L10_HUMAN	T	173	ENSP00000260442:P173T	ENSP00000260442:P173T	P	-	1	0	BCL2L10	50189435	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.399000	0.07250	0.109000	0.17891	-0.254000	0.11334	CCC	BCL2L10	-	NULL	ENSG00000137875		0.453	BCL2L10-002	PUTATIVE	basic|exp_conf	protein_coding	BCL2L10	HGNC	protein_coding	OTTHUMT00000419386.1	-	0	49	0	G			52402143	-1	tier1	-	no_errors	ENST00000260442	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	T	T	52402143	G	T	52402143	3	4	126	1	0	0	0	0	1	0	0	0	1369	1232	43	3	101	3	BCL2L10	15	52402143	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4342902	52402143	50129249	227	32645											
CELF6	60677	genome.wustl.edu	37	chr15	72608242	72608242	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgagagcagagtcccGggcgcagtaggtgaggaagg	9	5	19	8	2	0	3	0	2	0	2	1	5	1	4	2	5	1	3	2	5	2	2	rs377177378		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr15:72608242G>T	ENST00000569547.1	-	2	360	c.289C>A	c.(289-291)Cgg>Agg	p.R97R	CELF6_ENST00000567083.1_Silent_p.R97R|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000287202.5_Silent_p.R97R|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	97	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						GCAGAGTCCCGGGCGCAGTAG	0.597																																																	0													33	34	34					15																	72608242		2199	4297	6496	SO:0001819	synonymous_variant	0			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.289C>A	15.37:g.72608242G>T			B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R97	ENST00000569547.1	37	c.289	CCDS10242.1	15																																																																																			CELF6	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000273025		0.597	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	CELF6	Uniprot_gn	protein_coding	OTTHUMT00000420180.1	-	0	84	0	G	NM_052840		72608242	-1	tier1	-	no_errors	ENST00000569547	ensembl	human	known	74_37	silent	12.22	79	11	SNP	1.000	T	T	72608242	G	T	72608242	2	4	126	1	0	0	0	0	0	0	0	1	3227	1115	39	2		2	CELF6	15	72608242	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	20206099	72608242	29923150	228	32646											
MRPS34	65993	genome.wustl.edu	37	chr16	1822500	1822500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtgttcgatctcccgcgcctCgctctcagtcttccctgatg	3	13	9	16	4	3	1	1	1	3	0	8	2	4	1	3	0	0	2	3	0	0	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr16:1822500C>G	ENST00000397375.2	-	3	414	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	MRPS34_ENST00000177742.3_Missense_Mutation_p.E134Q|EME2_ENST00000568449.1_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_5'Flank|NME3_ENST00000219302.3_5'Flank	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	127						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						TCCCGCGCCTCGCTCTCAGTC	0.647																																																	0													72	77	75					16																	1822500		2198	4300	6498	SO:0001583	missense	0			BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"Mitochondrial ribosomal proteins / small subunits"	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.379G>C	16.37:g.1822500C>G	ENSP00000380531:p.Glu127Gln		Q9BVI7	Missense_Mutation	SNP	NULL	p.E127Q	ENST00000397375.2	37	c.379	CCDS10444.1	16	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845956	0.32606	.	.	ENSG00000074071	ENST00000397375;ENST00000177742	T;T	0.55760	0.5;0.5	4.02	1.89	0.25635	.	0.234663	0.42420	D	0.000712	T	0.37320	0.0999	L	0.33189	0.99	0.51767	D	0.999932	B;B	0.21753	0.06;0.024	B;B	0.21708	0.036;0.019	T	0.15780	-1.0425	10	0.34782	T	0.22	-1.7028	8.5187	0.33262	0.0:0.7228:0.1711:0.1061	.	134;127	C9JJ19;P82930	.;RT34_HUMAN	Q	127;134	ENSP00000380531:E127Q;ENSP00000177742:E134Q	ENSP00000177742:E134Q	E	-	1	0	MRPS34	1762501	0.025000	0.19082	0.344000	0.25628	0.243000	0.25628	0.315000	0.19451	0.873000	0.35799	0.561000	0.74099	GAG	MRPS34	-	NULL	ENSG00000074071		0.647	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS34	HGNC	protein_coding	OTTHUMT00000250506.1	-	0	38	0	C	NM_023936		1822500	-1	tier1	-	no_errors	ENST00000397375	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.385	G	G	1822500	C	G	1822500	3	3	126	1	0	0	0	0	1	0	0	0	9881	893	31	5	281	5	MRPS34	16	1822500	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09		1822500	88532253	229	32647											
DNAH3	55567	genome.wustl.edu	37	chr16	20975118	20975118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttctcaaacagagaaCggcacacgttgttgtagatg	11	11	10	9	2	1	2	1	0	1	2	3	3	2	2	1	1	2	4	1	1	3	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr16:20975118C>T	ENST00000261383.3	-	53	10087	c.10088G>A	c.(10087-10089)cGt>cAt	p.R3363H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3363					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)		AAACAGAGAACGGCACACGTT	0.478																																																	0													147	114	125					16																	20975118		2201	4300	6501	SO:0001583	missense	0			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.10088G>A	16.37:g.20975118C>T	ENSP00000261383:p.Arg3363His		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.R3363H	ENST00000261383.3	37	c.10088	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604646	0.87157	.	.	ENSG00000158486	ENST00000261383	T	0.80566	-1.39	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.94443	0.8212	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96080	0.9053	10	0.87932	D	0	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	3363	Q8TD57	DYH3_HUMAN	H	3363	ENSP00000261383:R3363H	ENSP00000261383:R3363H	R	-	2	0	DNAH3	20882619	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.734000	0.93682	0.563000	0.77884	CGT	DNAH3	-	NULL	ENSG00000158486		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	74	0	C	NM_017539		20975118	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	28.30	38	15	SNP	1.000	T	T	20975118	C	T	20975118	3	4	126	1	0	0	0	0	1	0	0	0	4617	536	19	1	2301	1	DNAH3	16	20975118	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	19152618	20975118	69379635	230	32648											
ZNF629	23361	genome.wustl.edu	37	chr16	30793915	30793915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagatgccctcgtcgttGaagccctttccgcacacgag	9	9	10	13	4	0	3	0	2	0	1	3	4	1	3	3	0	2	2	3	0	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr16:30793915G>A	ENST00000262525.4	-	3	1941	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	578					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)			CCTCGTCGTTGAAGCCCTTTC	0.637																																																	0													67	67	67					16																	30793915		2035	4156	6191	SO:0001819	synonymous_variant	0			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.1734C>T	16.37:g.30793915G>A			Q15938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F578	ENST00000262525.4	37	c.1734	CCDS45463.1	16																																																																																			ZNF629	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000102870		0.637	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	HGNC	protein_coding	OTTHUMT00000434291.1	-	0	43	0	G	NM_015309		30793915	-1	tier1	-	no_errors	ENST00000262525	ensembl	human	known	74_37	silent	25.00	18	6	SNP	1.000	A	A	30793915	G	A	30793915	2	1	126	1	0	0	0	0	0	0	0	1	18101	1281	45	3		3	ZNF629	16	30793915	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	9818797	30793915	59560838	231	32649											
FHOD1	29109	genome.wustl.edu	37	chr16	67265688	67265688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcctcaatcttctgcCgctcttcctccgtgggcatc	3	13	9	16	2	4	0	1	0	3	0	8	0	7	0	4	2	1	3	4	2	1	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr16:67265688C>T	ENST00000258201.4	-	15	2484	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	746	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Interaction with ROCK1.				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)		AATCTTCTGCCGCTCTTCCTC	0.602																																																	0													69	65	66					16																	67265688		2198	4300	6498	SO:0001583	missense	0			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.2237G>A	16.37:g.67265688C>T	ENSP00000258201:p.Arg746Gln		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.R746Q	ENST00000258201.4	37	c.2237	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002808	0.74932	.	.	ENSG00000135723	ENST00000258201	T	0.16897	2.31	5.45	-3.86	0.04230	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.457276	0.25101	N	0.033136	T	0.08891	0.0220	N	0.19112	0.55	0.31431	N	0.673073	B	0.10296	0.003	B	0.13407	0.009	T	0.18085	-1.0348	10	0.29301	T	0.29	.	11.622	0.51124	0.0:0.3745:0.0:0.6255	.	746	Q9Y613	FHOD1_HUMAN	Q	746	ENSP00000258201:R746Q	ENSP00000258201:R746Q	R	-	2	0	FHOD1	65823189	1.000000	0.71417	0.211000	0.23655	0.759000	0.43091	1.328000	0.33758	-0.449000	0.07117	-1.152000	0.01820	CGG	FHOD1	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000135723		0.602	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	-	0	40	0	C			67265688	-1	tier1	-	no_errors	ENST00000258201	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.972	T	T	67265688	C	T	67265688	3	4	126	1	0	0	0	0	1	0	0	0	5904	652	23	1	1289	1	FHOD1	16	67265688	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	36471773	67265688	23089065	232	32650											
MARVELD3	91862	genome.wustl.edu	37	chr16	71674801	71674801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctttgcttgtcttctcgtGatcatgtacggcgccagcgt	5	14	10	12	4	3	1	1	1	2	0	4	1	3	1	2	1	3	2	2	1	1	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr16:71674801G>A	ENST00000299952.4	+	3	1147	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	371	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GTCTTCTCGTGATCATGTACG	0.592																																																	0													60	49	53					16																	71674801		2198	4300	6498	SO:0001819	synonymous_variant	0			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.1104G>A	16.37:g.71674801G>A			A8K820|H3BQM5|Q96MJ4	Silent	SNP	NULL	p.V368	ENST00000299952.4	37	c.1104	CCDS32478.1	16																																																																																			MARVELD3	-	NULL	ENSG00000140832		0.592	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD3	HGNC	protein_coding	OTTHUMT00000268990.1	-	0	42	0	G	NM_052858		71674801	1	tier1	-	no_errors	ENST00000299952	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.941	A	A	71674801	G	A	71674801	2	1	126	1	0	0	0	0	0	0	0	1	9357	1277	45	3		3	MARVELD3	16	71674801	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4409113	71674801	18679952	233	32651											
USP10	9100	genome.wustl.edu	37	chr16	84778244	84778244	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttctaaacaggacaaGaatatcagagaattgagttt	15	14	7	5	0	3	3	1	1	2	2	3	5	3	4	0	1	1	1	0	1	6	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr16:84778244G>T	ENST00000219473.7	+	4	270	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Nonsense_Mutation_p.E57*	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	53	Interaction with p53/TP53.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AACAGGACAAGAATATCAGAG	0.378																																																	0													38	36	36					16																	84778244		1842	4080	5922	SO:0001587	stop_gained	0			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.157G>T	16.37:g.84778244G>T	ENSP00000219473:p.Glu53*		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67	p.E57*	ENST00000219473.7	37	c.169	CCDS45537.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.336694|5.336694	0.95758|0.95758	.|.	.|.	ENSG00000103194|ENSG00000103194	ENST00000219473|ENST00000540269	.|.	.|.	.|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.836985|.	0.10914|.	N|.	0.620264|.	.|T	.|0.74558	.|0.3732	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.80970	.|-0.1144	.|4	0.72032|0.72032	D|D	0.01|0.01	-2.9273|-2.9273	15.5777|15.5777	0.76404|0.76404	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	53|32	.|.	ENSP00000219473:E53X|ENSP00000445589:K32N	E|K	+|+	1|3	0|2	USP10|USP10	83335745|83335745	1.000000|1.000000	0.71417|0.71417	0.320000|0.320000	0.25306|0.25306	0.867000|0.867000	0.49689|0.49689	8.713000|8.713000	0.91408|0.91408	2.331000|2.331000	0.79229|0.79229	0.491000|0.491000	0.48974|0.48974	GAA|AAG	USP10	-	NULL	ENSG00000103194		0.378	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	HGNC	protein_coding	OTTHUMT00000433660.1	-	0	93	0	G			84778244	1	tier1	-	no_errors	ENST00000570191	ensembl	human	known	74_37	nonsense	7.84	47	4	SNP	1.000	T	T	84778244	G	T	84778244	4	4	126	1	0	0	0	0	0	1	0	0	17090	943	33	3	171	3	USP10	16	84778244	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	13103443	84778244	5576509	234	32652											
C16orf7	9605	genome.wustl.edu	37	chr16	89782964	89782964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttcatcggagtatacacGgcggtgtcggccggcaggct	6	9	14	12	5	1	0	1	0	0	0	4	1	2	1	2	6	1	3	2	6	2	3	rs369012100		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr16:89782964G>T	ENST00000389386.3	-	4	461	c.337C>A	c.(337-339)Cgt>Agt	p.R113S	VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000561976.1_Missense_Mutation_p.R43S	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	113					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GAGTATACACGGCGGTGTCGG	0.572																																																	0													130	150	143					16																	89782964		2010	4179	6189	SO:0001583	missense	0			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.337C>A	16.37:g.89782964G>T	ENSP00000374037:p.Arg113Ser			Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.R113S	ENST00000389386.3	37	c.337	CCDS42220.1	16	.	.	.	.	.	.	.	.	.	.	g	13.52	2.260263	0.39995	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	.	.	.	5.28	3.14	0.36123	.	0.048614	0.85682	D	0.000000	T	0.67571	0.2907	M	0.72894	2.215	0.41139	D	0.985943	D	0.60575	0.988	P	0.56563	0.801	T	0.72669	-0.4223	9	0.87932	D	0	-10.8402	11.7532	0.51859	0.0:0.0:0.6317:0.3682	.	113	Q9Y2B5	CP007_HUMAN	S	113;144	.	ENSP00000261625:R144S	R	-	1	0	C16orf7	88310465	1.000000	0.71417	0.995000	0.50966	0.034000	0.12701	1.568000	0.36418	1.183000	0.42943	0.486000	0.48141	CGT	VPS9D1	-	NULL	ENSG00000075399		0.572	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1	HGNC	protein_coding	OTTHUMT00000422508.1	-	0	97	0	G	NM_004913		89782964	-1	tier1	-	no_errors	ENST00000389386	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.996	T	T	89782964	G	T	89782964	3	4	126	1	0	0	0	0	1	0	0	0	1833	1116	39	2	1606	2	C16orf7	16	89782964	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	5004720	89782964	571789	235	32653											
SERPINF1	5176	genome.wustl.edu	37	chr17	1674466	1674466	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagagtgcctcccggatcGtctttgagaagagtgagtcg	9	10	13	9	3	2	4	1	2	1	3	5	6	3	5	2	1	1	0	2	1	2	1	rs548418598	byFrequency	TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:1674466G>C	ENST00000254722.4	+	4	590	c.427G>C	c.(427-429)Gtc>Ctc	p.V143L	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	143					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						CTCCCGGATCGTCTTTGAGAA	0.532																																																	0													42	38	40					17																	1674466		2203	4300	6503	SO:0001583	missense	0			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.427G>C	17.37:g.1674466G>C	ENSP00000254722:p.Val143Leu		F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.V143L	ENST00000254722.4	37	c.427	CCDS11012.1	17	.	.	.	.	.	.	.	.	.	.	G	1.100	-0.661264	0.03454	.	.	ENSG00000132386	ENST00000254722	D	0.84070	-1.8	5.41	-10.8	0.00216	Serpin domain (3);	1.048210	0.07322	N	0.877762	T	0.72898	0.3518	L	0.34521	1.04	0.32314	N	0.563356	B	0.02656	0.0	B	0.04013	0.001	T	0.51521	-0.8695	10	0.54805	T	0.06	.	17.7116	0.88323	0.2519:0.0:0.6693:0.0788	.	143	P36955	PEDF_HUMAN	L	143	ENSP00000254722:V143L	ENSP00000254722:V143L	V	+	1	0	SERPINF1	1621216	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.773000	0.04689	-2.529000	0.00492	-1.225000	0.01585	GTC	SERPINF1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000132386		0.532	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF1	HGNC	protein_coding	OTTHUMT00000207109.4		0	67	0	G	NM_002615		1674466	1			no_errors	ENST00000254722	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.000	C	C	1674466	G	C	1674466	3	2	126	1	0	0	0	0	1	0	0	0	14159	1145	40	5	437	5	SERPINF1	17	1674466	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		1674466	79520744	236	32654											
RAP1GAP2	23108	genome.wustl.edu	37	chr17	2923853	2923853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gctcttcccccgcctgcacaCgggctcagaaggccagggcg	6	5	13	17	3	2	1	1	0	1	1	3	1	3	1	4	3	1	3	4	3	1	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:2923853C>T	ENST00000254695.8	+	19	1805	c.1715C>T	c.(1714-1716)aCg>aTg	p.T572M	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.T553M|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.T557M|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.T572M	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	572					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						CGCCTGCACACGGGCTCAGAA	0.632																																																	0													26	33	31					17																	2923853		1941	4122	6063	SO:0001583	missense	0			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.1715C>T	17.37:g.2923853C>T	ENSP00000254695:p.Thr572Met		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.T572M	ENST00000254695.8	37	c.1715	CCDS45573.1	17	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136695	0.56936	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.89050	-2.45;-2.46;-2.45;-2.45	5.16	4.19	0.49359	.	0.201381	0.52532	D	0.000079	T	0.76147	0.3947	N	0.08118	0	0.44807	D	0.997816	B;B	0.32939	0.391;0.271	B;B	0.26969	0.075;0.034	T	0.75227	-0.3392	10	0.42905	T	0.14	-14.0006	12.7582	0.57347	0.0:0.9211:0.0:0.0789	.	557;572	Q684P5-2;Q684P5	.;RPGP2_HUMAN	M	572;557;553;572	ENSP00000254695:T572M;ENSP00000389824:T557M;ENSP00000439688:T553M;ENSP00000444890:T572M	ENSP00000254695:T572M	T	+	2	0	RAP1GAP2	2870603	1.000000	0.71417	0.994000	0.49952	0.900000	0.52787	4.960000	0.63673	1.186000	0.42985	0.561000	0.74099	ACG	RAP1GAP2	-	NULL	ENSG00000132359		0.632	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	-	0	94	0	C			2923853	1	tier1	-	no_errors	ENST00000254695	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	2923853	C	T	2923853	3	4	126	1	0	0	0	0	1	0	0	0	13083	536	19	1	1789	1	RAP1GAP2	17	2923853	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	1249387	2923853	78271357	237	32655											
CTNS	1497	genome.wustl.edu	37	chr17	3560044	3560044	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcttcagcctgcacgcGgttgtcctcacgctgatcat	5	13	9	14	3	5	1	3	1	2	0	6	1	6	1	2	1	2	3	2	1	0	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:3560044G>T	ENST00000046640.3	+	9	1229	c.636G>T	c.(634-636)gcG>gcT	p.A212A	CTNS_ENST00000441220.2_Silent_p.A104A|CTNS_ENST00000381870.3_Silent_p.A212A|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Silent_p.A65A	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	212					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)	GCCTGCACGCGGTTGTCCTCA	0.612																																																	0													144	115	125					17																	3560044		2203	4300	6503	SO:0001819	synonymous_variant	0			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.636G>T	17.37:g.3560044G>T			D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	smart_CTNS,tigrfam_LC_transporter	p.A212	ENST00000046640.3	37	c.636	CCDS11031.1	17																																																																																			CTNS	-	tigrfam_LC_transporter	ENSG00000040531		0.612	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CTNS	HGNC	protein_coding	OTTHUMT00000317696.1		0	64	0	G	NM_004937		3560044	1			no_errors	ENST00000381870	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.002	T	T	3560044	G	T	3560044	2	4	126	1	0	0	0	0	0	0	0	1	4030	1103	39	2		2	CTNS	17	3560044	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	636191	3560044	77635166	238	32656											
TP53	7157	genome.wustl.edu	37	chr17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggacaggcacaaacacgcaCctcaaagctgttccgtccca	13	5	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs121912657		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000420246.2_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAACACGCACCTCAAAGCTG	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	GRCh37	CM920676	TP53	M	rs121912657						62	54	57					17																	7577124		2203	4300	6503	SO:0001583	missense	0	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.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V272M	ENST00000269305.4	37	c.814	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	41	0	C	NM_000546		7577124	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	T	T	7577124	C	T	7577124	3	4	126	1	0	0	0	0	1	0	0	0	16429	507	18	3	472	3	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	4017080	7577124	73618086	239	32657											
TP53	7157	genome.wustl.edu	37	chr17	7578410	7578410	+	Missense_Mutation	SNP	T	T	A	0	1	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	ctcatggtgggggcagcgccTcacaacctccgtcatgtgct	6	9	12	14	2	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:7578410T>A	ENST00000269305.4	-	5	709	c.520A>T	c.(520-522)Agg>Tgg	p.R174W	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R174W|TP53_ENST00000455263.2_Missense_Mutation_p.R174W|TP53_ENST00000359597.4_Missense_Mutation_p.R174W|TP53_ENST00000420246.2_Missense_Mutation_p.R174W|TP53_ENST00000445888.2_Missense_Mutation_p.R174W	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	174	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|R -> M (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in a sporadic cancer; 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.R174W(12)|p.0?(8)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R81W(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*73(1)|p.R174fs*70(1)|p.R174G(1)|p.R42W(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.R174fs*3(1)|p.R174fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(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)	GGGCAGCGCCTCACAACCTCC	0.657		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(15)|Deletion - Frameshift(13)|Whole gene deletion(8)|Deletion - In frame(6)|Insertion - Frameshift(1)	liver(11)|breast(7)|lung(4)|oesophagus(4)|bone(4)|large_intestine(3)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|ovary(1)|prostate(1)	GRCh37	CM942119	TP53	M							50	50	50					17																	7578410		2203	4300	6503	SO:0001583	missense	0	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.520A>T	17.37:g.7578410T>A	ENSP00000269305:p.Arg174Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R174W	ENST00000269305.4	37	c.520	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919495	0.73098	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99820	-6.93;-6.93;-6.93;-6.93;-6.93;-6.93;-6.93;-6.93	5.59	1.97	0.26223	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.297542	0.32190	N	0.006445	D	0.99764	0.9904	M	0.84585	2.705	0.39545	D	0.968872	D;D;D;D;D;D;D	0.89917	1.0;0.996;0.998;1.0;0.997;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.978;0.977;0.999;0.997;0.987;0.998	D	0.98344	1.0540	10	0.87932	D	0	-14.7463	12.0783	0.53657	0.0:0.0:0.417:0.583	.	135;174;174;81;174;174;174	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	W	174;174;174;174;174;174;163;81;42;81;42	ENSP00000410739:R174W;ENSP00000352610:R174W;ENSP00000269305:R174W;ENSP00000398846:R174W;ENSP00000391127:R174W;ENSP00000391478:R174W;ENSP00000425104:R42W;ENSP00000423862:R81W	ENSP00000269305:R174W	R	-	1	2	TP53	7519135	0.002000	0.14202	0.176000	0.23000	0.618000	0.37518	1.330000	0.33781	0.094000	0.17404	0.533000	0.62120	AGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.657	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	58	0	T	NM_000546		7578410	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	37.50	15	9	SNP	0.986	A	A	7578410	T	A	7578410	3	1	126	1	0	0	0	0	1	0	0	0	16429	1550	54	5	778	5	TP53	17	7578410	Missense_Mutation	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09	1286	7578410	73616800	240	32658											
DNAH2	146754	genome.wustl.edu	37	chr17	7727989	7727989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctccatcccccacccaGacttccctatctcaatcttg	8	11	3	19	0	3	1	2	0	2	1	7	1	6	1	5	0	1	1	5	0	2	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:7727989G>T	ENST00000572933.1	+	77	13257	c.11797G>T	c.(11797-11799)Gac>Tac	p.D3933Y	DNAH2_ENST00000389173.2_Missense_Mutation_p.D3933Y			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3933	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)				CCCCCACCCAGACTTCCCTAT	0.552																																																	0													132	113	120					17																	7727989		2203	4300	6503	SO:0001583	missense	0			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.11797G>T	17.37:g.7727989G>T	ENSP00000458355:p.Asp3933Tyr		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D3933Y	ENST00000572933.1	37	c.11797	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181129	0.78677	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.08807	3.05	4.41	4.41	0.53225	Dynein heavy chain (1);	0.260612	0.36815	N	0.002385	T	0.20861	0.0502	L	0.58354	1.805	0.80722	D	1	P;P	0.36222	0.488;0.544	B;P	0.50896	0.393;0.653	T	0.01081	-1.1458	10	0.59425	D	0.04	.	15.9206	0.79562	0.0:0.0:1.0:0.0	.	3894;3933	Q9P225-2;Q9P225	.;DYH2_HUMAN	Y	3894;3933	ENSP00000373825:D3933Y	ENSP00000353818:D3894Y	D	+	1	0	DNAH2	7668714	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.066000	0.64351	2.292000	0.77174	0.505000	0.49811	GAC	DNAH2	-	pfam_Dynein_heavy_dom	ENSG00000183914		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	-	0	45	0	G	NM_020877		7727989	1	tier1	-	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	7727989	G	T	7727989	3	4	126	1	0	0	0	0	1	0	0	0	4616	942	33	3	12099	3	DNAH2	17	7727989	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	149579	7727989	73467221	241	32659											
MYH8	4626	genome.wustl.edu	37	chr17	10301805	10301805	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctggatggcatccgtctcGtatttggttctccactgggc	4	13	12	12	3	2	0	0	0	2	0	5	1	3	1	2	4	0	4	2	4	1	3	rs200411635	byFrequency	TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:10301805G>T	ENST00000403437.2	-	30	4228	c.4134C>A	c.(4132-4134)taC>taA	p.Y1378*	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	1378				KY -> NT (in Ref. 3; CAA35941). {ECO:0000305}.	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						CATCCGTCTCGTATTTGGTTC	0.542									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													207	191	196					17																	10301805		2203	4300	6503	SO:0001587	stop_gained	0	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.4134C>A	17.37:g.10301805G>T	ENSP00000384330:p.Tyr1378*		Q14910	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Y1378*	ENST00000403437.2	37	c.4134	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.844853	0.98522	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.21	-8.71	0.00848	.	0.000000	0.38005	U	0.001847	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1235	0.97970	0.8246:0.0:0.1754:0.0	.	.	.	.	X	1378	.	ENSP00000252173:Y1378X	Y	-	3	2	MYH8	10242530	0.000000	0.05858	0.701000	0.30321	0.682000	0.39822	-2.344000	0.01098	-1.594000	0.01615	-0.794000	0.03295	TAC	MYH8	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000133020		0.542	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2		0	76	0	G	NM_002472		10301805	-1			no_errors	ENST00000403437	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.807	T	T	10301805	G	T	10301805	4	4	126	1	0	0	0	0	0	1	0	0	10079	1140	40	2	1723	2	MYH8	17	10301805	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2573816	10301805	70893405	242	32660											
DNAH9	1770	genome.wustl.edu	37	chr17	11809043	11809043	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctagattttgcaacctCatttgaagaatcgggaccag	12	10	9	10	1	1	3	1	1	0	2	2	4	1	4	3	1	3	1	3	1	4	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:11809043C>A	ENST00000262442.4	+	61	11734	c.11666C>A	c.(11665-11667)tCa>tAa	p.S3889*	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Nonsense_Mutation_p.S201*|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.S3889*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3889	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)		TTTGCAACCTCATTTGAAGAA	0.438																																																	0													80	81	80					17																	11809043		2203	4300	6503	SO:0001587	stop_gained	0			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.11666C>A	17.37:g.11809043C>A	ENSP00000262442:p.Ser3889*		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S3889*	ENST00000262442.4	37	c.11666	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	52	18.990491	0.99913	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	.	.	.	4.81	4.81	0.61882	.	0.120955	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4172	0.90574	0.0:1.0:0.0:0.0	.	.	.	.	X	3889;3889;2471;201;242	.	ENSP00000262442:S3889X	S	+	2	0	DNAH9	11749768	1.000000	0.71417	0.099000	0.21106	0.076000	0.17211	4.725000	0.61979	2.665000	0.90641	0.655000	0.94253	TCA	DNAH9	-	pfam_Dynein_heavy_dom	ENSG00000007174		0.438	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	64	0	C	NM_001372		11809043	1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	nonsense	9.76	37	4	SNP	0.990	A	A	11809043	C	A	11809043	4	1	126	1	0	0	0	0	0	1	0	0	4622	838	29	3	11908	3	DNAH9	17	11809043	Nonsense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	1507238	11809043	69386167	243	32661											
RICH2	9912	genome.wustl.edu	37	chr17	12823098	12823098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccaaatattcaaaagcaGaggaaacacttagccaagtt	18	8	6	9	0	1	1	1	0	0	1	2	2	2	2	2	1	3	2	2	1	7	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:12823098G>T	ENST00000379672.5	+	6	714	c.414G>T	c.(412-414)caG>caT	p.Q138H	MIR1269B_ENST00000580405.1_RNA|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.Q138H|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.Q138H	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	138	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TTCAAAAGCAGAGGAAACACT	0.388																																																	0													101	94	96					17																	12823098		1869	4105	5974	SO:0001583	missense	0				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.414G>T	17.37:g.12823098G>T	ENSP00000368994:p.Gln138His		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.Q138H	ENST00000379672.5	37	c.414	CCDS45616.1	17	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576257	0.28092	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.62105	0.05;0.05	5.48	2.33	0.28932	BAR (3);	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	L	0.45698	1.435	0.51233	D	0.999919	D;P	0.76494	0.999;0.927	D;P	0.87578	0.998;0.759	T	0.61955	-0.6956	10	0.22706	T	0.39	.	9.7083	0.40229	0.2382:0.0:0.7618:0.0	.	138;138	A6NCP5;Q17R89	.;RHG44_HUMAN	H	138	ENSP00000368994:Q138H;ENSP00000342566:Q138H	ENSP00000342566:Q138H	Q	+	3	2	ARHGAP44	12763823	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.848000	0.27710	0.674000	0.31244	0.655000	0.94253	CAG	ARHGAP44	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000006740		0.388	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP44	HGNC	protein_coding	OTTHUMT00000441566.1	-	0	93	0	G	NM_014859		12823098	1	tier1	-	no_errors	ENST00000379672	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	12823098	G	T	12823098	3	4	126	1	0	0	0	0	1	0	0	0	13402	933	33	3	436	3	RICH2	17	12823098	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	1014055	12823098	68372112	244	32662											
RICH2	9912	genome.wustl.edu	37	chr17	12877410	12877410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgtccctcgccagcatgGgtgtgagggtcatggacaca	7	10	14	10	1	1	1	1	1	0	0	3	2	2	2	2	3	1	1	2	3	0	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:12877410G>T	ENST00000379672.5	+	18	1846	c.1546G>T	c.(1546-1548)Ggt>Tgt	p.G516C	RN7SL550P_ENST00000583299.1_RNA|ARHGAP44_ENST00000578087.1_3'UTR|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.G510C|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.G516C	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	516					exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CGCCAGCATGGGTGTGAGGGT	0.642																																																	0													21	26	24					17																	12877410		2057	4173	6230	SO:0001583	missense	0				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1546G>T	17.37:g.12877410G>T	ENSP00000368994:p.Gly516Cys		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.G516C	ENST00000379672.5	37	c.1546	CCDS45616.1	17	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801820	0.90538	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825	T;T	0.25414	1.8;1.99	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.982	T	0.44128	-0.9348	10	0.72032	D	0.01	.	16.4391	0.83894	0.0:0.0:1.0:0.0	.	510;172;516	A6NCP5;F5H6L3;Q17R89	.;.;RHG44_HUMAN	C	516;172;510	ENSP00000368994:G516C;ENSP00000342566:G510C	ENSP00000342566:G510C	G	+	1	0	ARHGAP44	12818135	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.758000	0.85224	2.481000	0.83766	0.557000	0.71058	GGT	ARHGAP44	-	NULL	ENSG00000006740		0.642	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP44	HGNC	protein_coding	OTTHUMT00000441566.1	-	0	96	0	G	NM_014859		12877410	1	tier1	-	no_errors	ENST00000379672	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	T	T	12877410	G	T	12877410	3	4	126	1	0	0	0	0	1	0	0	0	13402	1232	43	3	1616	3	RICH2	17	12877410	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	54312	12877410	68317800	245	32663											
KCNH4	23415	genome.wustl.edu	37	chr17	40321642	40321642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagcgagcggcgcgagtaCatgcgctggatgatggctgt	8	8	17	8	5	0	2	0	1	0	1	0	5	0	3	0	3	4	3	0	3	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:40321642C>A	ENST00000264661.3	-	9	1775	c.1443G>T	c.(1441-1443)atG>atT	p.M481I	KCNH4_ENST00000607371.1_Missense_Mutation_p.M481I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	481					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)		GGCGCGAGTACATGCGCTGGA	0.657																																					NSCLC(117;707 1703 2300 21308 31858)												0													90	73	79					17																	40321642		2203	4300	6503	SO:0001583	missense	0			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.1443G>T	17.37:g.40321642C>A	ENSP00000264661:p.Met481Ile			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.M481I	ENST00000264661.3	37	c.1443	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971454	0.74246	.	.	ENSG00000089558	ENST00000264661	D	0.97404	-4.37	4.36	4.36	0.52297	.	0.000000	0.44483	D	0.000455	D	0.95717	0.8607	L	0.55103	1.725	0.80722	D	1	B	0.25563	0.129	B	0.29176	0.099	D	0.94931	0.8082	10	0.72032	D	0.01	.	17.084	0.86605	0.0:1.0:0.0:0.0	.	481	Q9UQ05	KCNH4_HUMAN	I	481	ENSP00000264661:M481I	ENSP00000264661:M481I	M	-	3	0	KCNH4	37575168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.616000	0.83018	2.255000	0.74692	0.462000	0.41574	ATG	KCNH4	-	NULL	ENSG00000089558		0.657	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	-	0	61	0	C	NM_012285		40321642	-1	tier1	-	no_errors	ENST00000264661	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	40321642	C	A	40321642	3	1	126	1	0	0	0	0	1	0	0	0	8061	478	17	3	1642	3	KCNH4	17	40321642	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	27444232	40321642	40873568	246	32664											
MAP3K14	100133991	genome.wustl.edu	37	chr17	43348439	43348439	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accgaccttgaggcagagcgGccctcggaagaactgagtcc	10	5	13	13	3	0	4	0	2	0	2	2	6	1	5	4	3	2	1	4	3	2	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:43348439G>A	ENST00000586450.1	+	0	1886				MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000585351.1_RNA					MAP3K14 antisense RNA 1																		AGGCAGAGCGGCCCTCGGAAG	0.672											OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													26	29	28					17																	43348439		2110	4222	6332			0			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"Long non-coding RNAs"	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43348439G>A		915		RNA	SNP	-	NULL	ENST00000586450.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643496	0.67244	.	.	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053759	0.64402	D	0.000001	T	0.55657	0.1934	N	0.10837	0.055	0.38104	D	0.937359	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.976	T	0.66340	-0.5948	8	0.52906	T	0.07	.	17.3752	0.87390	0.0:0.0:1.0:0.0	.	603;133	Q99558;Q6ZMZ1	M3K14_HUMAN;.	S	602;386	.	ENSP00000342059:P602S	P	-	1	0	MAP3K14	40704222	1.000000	0.71417	0.990000	0.47175	0.683000	0.39861	6.057000	0.71119	2.342000	0.79632	0.462000	0.41574	CCG	MAP3K14	-	-	ENSG00000006062		0.672	MAP3K14-AS1-010	KNOWN	basic	antisense	MAP3K14	HGNC	antisense	OTTHUMT00000450942.1		0	64	0	G	NR_024434		43348439	-1			no_errors	ENST00000344686	ensembl	human	known	74_37	rna	13.33	26	4	SNP	0.802	A	A	43348439	G	A	43348439	1	1	126	0	1	0	0	0	0	0	0	0	9286	1203	42	3		3	MAP3K14	17	43348439	RNA	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	3026797	43348439	37846771	247	32665											
COL1A1	1277	genome.wustl.edu	37	chr17	48276617	48276617	+	Frame_Shift_Del	DEL	G	G	-																															ccagggggtccgggaggtccGgggggtccggggggtccggg																										TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:48276617delG	ENST00000225964.5	-	5	559	c.441delC	c.(439-441)cccfs	p.P147fs		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	147					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)	cgggaggtccggggggtccgg	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													1	1	1					17																	48276617		1234	2663	3897	SO:0001589	frameshift_variant	0			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.441delC	17.37:g.48276617delG	ENSP00000225964:p.Pro147fs		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G148fs	ENST00000225964.5	37	c.441	CCDS11561.1	17																																																																																			COL1A1	-	pfam_Collagen	ENSG00000108821		0.652	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2		0	8	0	G			48276617	-1			no_errors	ENST00000225964	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.198	0	-	48276617	G	-	48276617	7	5	126	1	0	1	0	1	0	0	0	0	3684	1103	39	0	4141	0	COL1A1	17	48276617	Frame_Shift_Del	DEL	G	TCGA-LN-A7HX-01A-11D-A33E-09	4928178	48276617	32918593	248	32666											
KIF2B	84643	genome.wustl.edu	37	chr17	51901127	51901127	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccctcggacaatgtggttAtggtgcatgagtccaagcaa	10	10	11	10	1	0	1	0	1	0	0	3	2	2	2	3	3	2	3	3	3	4	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:51901127A>T	ENST00000268919.4	+	1	889	c.733A>T	c.(733-735)Atg>Ttg	p.M245L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	245	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAATGTGGTTATGGTGCATGA	0.537																																																	0													125	103	110					17																	51901127		2203	4300	6503	SO:0001583	missense	0			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.733A>T	17.37:g.51901127A>T	ENSP00000268919:p.Met245Leu		Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M245L	ENST00000268919.4	37	c.733	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	A	9.894	1.204986	0.22205	.	.	ENSG00000141200	ENST00000268919	T	0.14893	2.47	5.63	4.49	0.54785	Kinesin, motor domain (4);	0.197164	0.35349	N	0.003264	T	0.04048	0.0113	N	0.00395	-1.55	0.30871	N	0.732478	B	0.02656	0.0	B	0.11329	0.006	T	0.18116	-1.0347	10	0.06365	T	0.9	.	11.9688	0.53051	0.8554:0.1445:0.0:0.0	.	245	Q8N4N8	KIF2B_HUMAN	L	245	ENSP00000268919:M245L	ENSP00000268919:M245L	M	+	1	0	KIF2B	49256126	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	2.344000	0.44010	2.258000	0.74832	0.533000	0.62120	ATG	KIF2B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000141200		0.537	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	-	0	62	0	A	NM_032559		51901127	1	tier1	-	no_errors	ENST00000268919	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	T	T	51901127	A	T	51901127	3	4	126	1	0	0	0	0	1	0	0	0	8325	449	16	5	735	5	KIF2B	17	51901127	Missense_Mutation	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	3624510	51901127	29294083	249	32667											
BZRAP1	9256	genome.wustl.edu	37	chr17	56383220	56383220	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctgggcagggccttccGactcagctgtggaaagaatg	9	7	16	9	1	1	1	1	0	0	1	2	3	2	2	2	4	1	3	2	4	2	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:56383220G>T	ENST00000343736.4	-	27	5394	c.5231C>A	c.(5230-5232)tCg>tAg	p.S1744*	BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.S1684*|BZRAP1_ENST00000355701.3_Nonsense_Mutation_p.S1744*			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1744						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)					AGGGCCTTCCGACTCAGCTGT	0.667																																																	0													46	45	45					17																	56383220		2203	4300	6503	SO:0001587	stop_gained	0			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.5231C>A	17.37:g.56383220G>T	ENSP00000345824:p.Ser1744*		O75111|Q8N5W3	Nonsense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.S1744*	ENST00000343736.4	37	c.5231	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	G	8.239	0.806310	0.16467	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	.	.	.	5.02	-5.59	0.02505	.	3.477390	0.00447	N	0.000096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	2.5045	0.04641	0.4619:0.1199:0.2963:0.1219	.	.	.	.	X	1744;1744;1684	.	ENSP00000268893:S1684X	S	-	2	0	BZRAP1	53738219	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-0.456000	0.06754	-1.368000	0.02149	0.561000	0.74099	TCG	BZRAP1	-	NULL	ENSG00000005379		0.667	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	-	0	82	0	G	NM_004758		56383220	-1	tier1	-	no_errors	ENST00000355701	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	0.000	T	T	56383220	G	T	56383220	4	4	126	1	0	0	0	0	0	1	0	0	1581	1059	37	2	362	2	BZRAP1	17	56383220	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4482093	56383220	24811990	250	32668											
MARCH10	162333	genome.wustl.edu	37	chr17	60865948	60865948	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcttctatattcctgtcGtctcagacaagcctgaagaa	10	13	7	11	1	3	3	1	1	3	2	7	3	4	3	2	0	1	0	2	0	5	4	rs200814272		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:60865948G>A	ENST00000311269.5	-	3	377	c.103C>T	c.(103-105)Cga>Tga	p.R35*	MARCH10_ENST00000583600.1_Nonsense_Mutation_p.R35*|MARCH10_ENST00000456609.2_Nonsense_Mutation_p.R35*|MARCH10_ENST00000544856.2_Nonsense_Mutation_p.R35*	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	35					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TATTCCTGTCGTCTCAGACAA	0.433													G|||	1	0.000199681	0	0	5008	,	,		17640	0.001		0	False		,,,				2504	0																0													123	107	113					17																	60865948		2203	4300	6503	SO:0001587	stop_gained	0			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.103C>T	17.37:g.60865948G>A	ENSP00000311496:p.Arg35*		D3DU09|Q8IYS7|Q8N7Z7	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R35*	ENST00000311269.5	37	c.103	CCDS11635.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.204529	0.95033	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	.	.	.	5.28	3.04	0.35103	.	0.237015	0.22083	N	0.064868	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.608	9.0739	0.36508	0.0:0.149:0.6778:0.1732	.	.	.	.	X	35	.	ENSP00000311496:R35X	R	-	1	2	MARCH10	58219680	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	1.474000	0.35398	1.193000	0.43086	0.561000	0.74099	CGA	MARCH10	-	NULL	ENSG00000173838		0.433	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	-	0	77	0	G	NM_152598		60865948	-1	tier1	rs200814272	no_errors	ENST00000311269	ensembl	human	known	74_37	nonsense	17.78	36	8	SNP	1.000	A	A	60865948	G	A	60865948	4	1	126	1	0	0	0	0	0	1	0	0	9337	1153	40	1	2359	1	MARCH10	17	60865948	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4482728	60865948	20329262	251	32669											
TEX2	55852	genome.wustl.edu	37	chr17	62228304	62228304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagctccacatgtggtGgctttcggaaaccatacctt	8	13	8	12	1	1	0	1	0	0	0	3	1	2	1	3	3	3	2	3	3	2	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:62228304G>T	ENST00000583097.1	-	11	3330	c.3158C>A	c.(3157-3159)cCa>cAa	p.P1053Q	TEX2_ENST00000258991.3_Missense_Mutation_p.P1060Q|TEX2_ENST00000584379.1_Missense_Mutation_p.P1053Q|TEX2_ENST00000581812.1_5'UTR			Q8IWB9	TEX2_HUMAN	testis expressed 2	1053					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)		CACATGTGGTGGCTTTCGGAA	0.423																																																	0													134	124	128					17																	62228304		2203	4300	6503	SO:0001583	missense	0			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.3158C>A	17.37:g.62228304G>T	ENSP00000462665:p.Pro1053Gln		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	pfam_DUF2404	p.P1060Q	ENST00000583097.1	37	c.3179		17	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090668	0.55968	.	.	ENSG00000136478	ENST00000258991	T	0.44083	0.93	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.79926	2.475	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69307	0.963;0.92	T	0.71820	-0.4477	10	0.87932	D	0	-8.6094	19.5451	0.95291	0.0:0.0:1.0:0.0	.	1060;1053	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	Q	1060	ENSP00000258991:P1060Q	ENSP00000258991:P1060Q	P	-	2	0	TEX2	59582036	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.629000	0.89072	0.655000	0.94253	CCA	TEX2	-	NULL	ENSG00000136478		0.423	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	-	0	78	0	G	NM_018469		62228304	-1	tier1	-	no_errors	ENST00000258991	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	T	T	62228304	G	T	62228304	3	4	126	1	0	0	0	0	1	0	0	0	15828	1348	47	3	233	3	TEX2	17	62228304	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	1362356	62228304	18966906	252	32670											
HELZ	9931	genome.wustl.edu	37	chr17	65190128	65190128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtgattcccctaggtGgtgggcggaaatgccaacca	8	10	13	10	1	0	1	0	1	0	0	1	2	1	2	4	4	3	1	4	4	3	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:65190128G>T	ENST00000358691.5	-	9	678	c.512C>A	c.(511-513)cCa>cAa	p.P171Q	HELZ_ENST00000580168.1_Missense_Mutation_p.P171Q|HELZ_ENST00000580662.1_Intron	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	171						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)					TCCCCTAGGTGGTGGGCGGAA	0.368																																																	0													65	63	63					17																	65190128		1852	4088	5940	SO:0001583	missense	0			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.512C>A	17.37:g.65190128G>T	ENSP00000351524:p.Pro171Gln		I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH	p.P171Q	ENST00000358691.5	37	c.512	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729592	0.48833	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.88124	-2.34;0.89	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.93877	0.8041	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.96;0.987	D	0.94583	0.7781	10	0.66056	D	0.02	-10.9663	18.3351	0.90285	0.0:0.0:1.0:0.0	.	171;171	B7ZLW2;P42694	.;HELZ_HUMAN	Q	171	ENSP00000351524:P171Q;ENSP00000411144:P171Q	ENSP00000351524:P171Q	P	-	2	0	HELZ	62620590	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.535000	0.82014	2.411000	0.81874	0.585000	0.79938	CCA	HELZ	-	NULL	ENSG00000198265		0.368	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	-	0	75	0	G	NM_014877		65190128	-1	tier1	-	no_errors	ENST00000358691	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	65190128	G	T	65190128	3	4	126	1	0	0	0	0	1	0	0	0	7076	1348	47	3	5416	3	HELZ	17	65190128	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2961824	65190128	16005082	253	32671											
ABCA10	10349	genome.wustl.edu	37	chr17	67197721	67197721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaggatttatttcattCtcaaagatttcatgatgagt	11	17	7	6	0	4	3	4	2	1	1	5	4	4	4	0	1	1	1	0	1	2	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:67197721C>A	ENST00000269081.4	-	11	2004	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	ABCA10_ENST00000432313.2_Missense_Mutation_p.E365D|ABCA10_ENST00000416101.2_Missense_Mutation_p.E365D	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	365					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)					TTATTTCATTCTCAAAGATTT	0.338																																																	0													83	86	85					17																	67197721		2203	4299	6502	SO:0001583	missense	0			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.1095G>T	17.37:g.67197721C>A	ENSP00000269081:p.Glu365Asp		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E365D	ENST00000269081.4	37	c.1095	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	4.633	0.117674	0.08881	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.87650	-2.28;-2.08;-1.8	2.78	1.79	0.24919	.	.	.	.	.	T	0.79021	0.4376	L	0.38838	1.175	0.49299	D	0.999774	B	0.14438	0.01	B	0.17722	0.019	T	0.70368	-0.4891	9	0.52906	T	0.07	.	6.5677	0.22521	0.0:0.7698:0.0:0.2302	.	365	Q8WWZ4	ABCAA_HUMAN	D	365	ENSP00000269081:E365D;ENSP00000407772:E365D;ENSP00000387674:E365D	ENSP00000269081:E365D	E	-	3	2	ABCA10	64709316	0.128000	0.22383	0.061000	0.19648	0.148000	0.21650	0.584000	0.23864	0.370000	0.24538	-0.357000	0.07601	GAG	ABCA10	-	NULL	ENSG00000154263		0.338	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	-	0	103	0	C	NM_080282		67197721	-1	tier1	-	no_errors	ENST00000269081	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.800	A	A	67197721	C	A	67197721	3	1	126	1	0	0	0	0	1	0	0	0	29	912	32	3	3656	3	ABCA10	17	67197721	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	2007593	67197721	13997489	254	32672											
UBE2O	63893	genome.wustl.edu	37	chr17	74395935	74395935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttccatggaatggtccCgggaacactgggtgtctggg	6	10	16	9	1	2	0	0	0	2	0	4	2	4	2	2	6	1	0	2	6	2	1	rs149178826		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:74395935C>A	ENST00000319380.7	-	9	1287	c.1223G>T	c.(1222-1224)cGg>cTg	p.R408L	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	408					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						GGAATGGTCCCGGGAACACTG	0.597																																																	0													112	117	116					17																	74395935		2203	4300	6503	SO:0001583	missense	0			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.1223G>T	17.37:g.74395935C>A	ENSP00000323687:p.Arg408Leu		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.R408L	ENST00000319380.7	37	c.1223	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797996	0.31777	.	.	ENSG00000175931	ENST00000319380	T	0.72282	-0.64	5.19	4.22	0.49857	.	0.725885	0.13059	N	0.417028	T	0.49133	0.1539	N	0.08118	0	0.09310	N	0.999997	B	0.18610	0.029	B	0.10450	0.005	T	0.33137	-0.9880	10	0.25751	T	0.34	-24.9209	10.0159	0.42014	0.0:0.642:0.2795:0.0785	.	408	Q9C0C9	UBE2O_HUMAN	L	408	ENSP00000323687:R408L	ENSP00000323687:R408L	R	-	2	0	UBE2O	71907530	0.004000	0.15560	0.779000	0.31741	0.995000	0.86356	0.018000	0.13422	1.190000	0.43042	0.563000	0.77884	CGG	UBE2O	-	NULL	ENSG00000175931		0.597	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	-	0	45	0	C	NM_022066		74395935	-1	tier1	-	no_errors	ENST00000319380	ensembl	human	known	74_37	missense	27.78	13	5	SNP	0.185	A	A	74395935	C	A	74395935	3	1	126	1	0	0	0	0	1	0	0	0	16917	652	23	2	2695	2	UBE2O	17	74395935	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	7198214	74395935	6799275	255	32673											
ZNF750	79755	genome.wustl.edu	37	chr17	80789490	80789490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgaggcaggaagtgtctcgGgtcttgggttccgtagactg	6	11	17	7	2	2	2	0	1	2	1	4	3	3	3	1	4	0	3	1	4	2	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr17:80789490G>A	ENST00000269394.3	-	2	1674	c.841C>T	c.(841-843)Ccg>Tcg	p.P281S	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	281					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGTGTCTCGGGTCTTGGGTT	0.592																																																	0													110	120	116					17																	80789490		2203	4300	6503	SO:0001583	missense	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.841C>T	17.37:g.80789490G>A	ENSP00000269394:p.Pro281Ser		Q9H899	Missense_Mutation	SNP	NULL	p.P281S	ENST00000269394.3	37	c.841	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730754	0.48939	.	.	ENSG00000141579	ENST00000269394	T	0.12984	2.63	5.34	5.34	0.76211	.	0.179199	0.38605	N	0.001640	T	0.10465	0.0256	N	0.22421	0.69	0.80722	D	1	B	0.32467	0.372	B	0.27796	0.083	T	0.23048	-1.0199	9	.	.	.	-8.2435	18.0265	0.89270	0.0:0.0:1.0:0.0	.	281	Q32MQ0	ZN750_HUMAN	S	281	ENSP00000269394:P281S	.	P	-	1	0	ZNF750	78382779	1.000000	0.71417	0.935000	0.37517	0.289000	0.27227	6.809000	0.75211	2.507000	0.84556	0.655000	0.94253	CCG	ZNF750	-	NULL	ENSG00000141579		0.592	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	0	152	0	G	NM_024702		80789490	-1	tier1	-	no_errors	ENST00000269394	ensembl	human	known	74_37	missense	49.37	40	39	SNP	1.000	A	A	80789490	G	A	80789490	3	1	126	1	0	0	0	0	1	0	0	0	18180	1232	43	3	1338	3	ZNF750	17	80789490	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	6393555	80789490	405720	256	32674											
TMEM200C	645369	genome.wustl.edu	37	chr18	5890378	5890378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaacgggggcggccacaGcagagtctcgcgtttgacca	9	5	14	13	4	1	3	0	1	1	2	2	3	1	3	3	3	2	2	3	3	1	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr18:5890378G>A	ENST00000581347.2	-	3	2330	c.1685C>T	c.(1684-1686)gCt>gTt	p.A562V	TMEM200C_ENST00000383490.2_Missense_Mutation_p.A562V|RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	562						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGCGGCCACAGCAGAGTCTCG	0.672																																																	0													24	27	26					18																	5890378		1904	4105	6009	SO:0001583	missense	0				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1685C>T	18.37:g.5890378G>A	ENSP00000463375:p.Ala562Val			Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.A562V	ENST00000581347.2	37	c.1685	CCDS45825.1	18	.	.	.	.	.	.	.	.	.	.	-	9.858	1.195498	0.22037	.	.	ENSG00000206432	ENST00000383490	.	.	.	.	.	.	.	.	.	.	.	T	0.15696	0.0378	N	0.08118	0	0.09310	N	1	P	0.42584	0.784	B	0.42959	0.403	T	0.13656	-1.0501	6	0.44086	T	0.13	.	.	.	.	.	562	A6NKL6	T200C_HUMAN	V	562	.	ENSP00000372982:A562V	A	-	2	0	TMEM200C	5880378	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCT	TMEM200C	-	NULL	ENSG00000206432		0.672	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200C	HGNC	protein_coding	OTTHUMT00000441917.4	-	0	57	0	G	NM_001080209		5890378	-1	tier1	-	no_errors	ENST00000383490	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.001	A	A	5890378	G	A	5890378	3	1	126	1	0	0	0	0	1	0	0	0	16172	971	34	3	184	3	TMEM200C	18	5890378	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		5890378	72186870	257	32675											
APCDD1	147495	genome.wustl.edu	37	chr18	10487902	10487902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgcctcctcttcgcCgagggcagaggacctcgcag	6	7	13	15	3	1	1	0	0	1	1	4	3	2	2	5	2	1	2	5	2	0	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr18:10487902C>T	ENST00000355285.5	+	5	1766	c.1412C>T	c.(1411-1413)cCg>cTg	p.P471L		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)		TCCTCTTCGCCGAGGGCAGAG	0.647																																																	0													68	66	67					18																	10487902		2203	4300	6503	SO:0001583	missense	0			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.1412C>T	18.37:g.10487902C>T	ENSP00000347433:p.Pro471Leu			Missense_Mutation	SNP	NULL	p.P471L	ENST00000355285.5	37	c.1412	CCDS11849.1	18	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196215	0.58126	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.35789	1.29	5.62	4.76	0.60689	.	0.373428	0.29355	N	0.012395	T	0.26629	0.0651	L	0.34521	1.04	0.51012	D	0.999902	B	0.24186	0.099	B	0.14023	0.01	T	0.04811	-1.0925	10	0.36615	T	0.2	-28.6874	10.8761	0.46913	0.0:0.8563:0.0:0.1437	.	471	Q8J025	APCD1_HUMAN	L	471;522	ENSP00000347433:P471L	ENSP00000347433:P471L	P	+	2	0	APCDD1	10477902	0.423000	0.25482	0.003000	0.11579	0.219000	0.24729	2.264000	0.43302	1.383000	0.46405	-0.244000	0.11960	CCG	APCDD1	-	NULL	ENSG00000154856		0.647	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCDD1	HGNC	protein_coding	OTTHUMT00000254529.2	-	0	54	0	C	NM_153000		10487902	1	tier1	-	no_errors	ENST00000355285	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.502	T	T	10487902	C	T	10487902	3	4	126	1	0	0	0	0	1	0	0	0	765	652	23	1	1430	1	APCDD1	18	10487902	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	4597524	10487902	67589346	258	32676											
PTPN2	5771	genome.wustl.edu	37	chr18	12825906	12825906	+	Missense_Mutation	SNP	T	T	A	0	1	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	ctgtttctttaaacagcatcTcttggtcatctgttggccag	7	16	8	10	0	4	0	1	0	3	0	5	0	4	0	1	2	2	3	1	2	2	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr18:12825906T>A	ENST00000309660.5	-	5	491	c.398A>T	c.(397-399)gAg>gTg	p.E133V	PTPN2_ENST00000327283.3_Missense_Mutation_p.E133V|PTPN2_ENST00000591115.1_Missense_Mutation_p.E133V|PTPN2_ENST00000591497.1_Missense_Mutation_p.E104V|PTPN2_ENST00000353319.4_Missense_Mutation_p.E133V	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	133	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AAACAGCATCTCTTGGTCATC	0.308																																																	0													81	74	76					18																	12825906		2203	4300	6503	SO:0001583	missense	0			M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.398A>T	18.37:g.12825906T>A	ENSP00000311857:p.Glu133Val		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E133V	ENST00000309660.5	37	c.398	CCDS11865.1	18	.	.	.	.	.	.	.	.	.	.	T	11.79	1.743704	0.30865	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.84660	-1.88;-1.88;-1.88	4.38	3.13	0.36017	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.154190	0.28895	N	0.013793	T	0.72415	0.3457	N	0.25144	0.715	0.35209	D	0.775009	B;B;B;B;B	0.09022	0.002;0.001;0.0;0.002;0.001	B;B;B;B;B	0.09377	0.004;0.003;0.003;0.004;0.004	T	0.73889	-0.3840	10	0.72032	D	0.01	.	6.0911	0.19995	0.2009:0.0:0.1305:0.6687	.	133;133;110;133;133	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	V	133;133;110;133	ENSP00000320298:E133V;ENSP00000320546:E133V;ENSP00000311857:E133V	ENSP00000311857:E133V	E	-	2	0	PTPN2	12815906	0.863000	0.29885	0.995000	0.50966	0.992000	0.81027	2.860000	0.48372	1.962000	0.57031	0.456000	0.33151	GAG	PTPN2	-	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000175354		0.308	PTPN2-002	KNOWN	basic|CCDS	protein_coding	PTPN2	HGNC	protein_coding	OTTHUMT00000254613.3	-	0	65	0	T	NM_002828, NM_080422, NM_080423		12825906	-1	tier1	-	no_errors	ENST00000309660	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.976	A	A	12825906	T	A	12825906	3	1	126	1	0	0	0	0	1	0	0	0	12828	1551	54	5	895	5	PTPN2	18	12825906	Missense_Mutation	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09	2338004	12825906	65251342	259	32677											
DCC	1630	genome.wustl.edu	37	chr18	50731606	50731606	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagttccagggccagtaGaaaacctgcaagctgtatct	12	9	10	10	0	1	1	0	0	1	1	2	1	2	1	3	1	4	6	3	1	6	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr18:50731606G>T	ENST00000442544.2	+	10	2210	c.1594G>T	c.(1594-1596)Gaa>Taa	p.E532*	DCC_ENST00000412726.1_Nonsense_Mutation_p.E380*|DCC_ENST00000581580.1_Nonsense_Mutation_p.E187*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	532	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)		AGGGCCAGTAGAAAACCTGCA	0.388																																																	0													167	173	171					18																	50731606		2203	4300	6503	SO:0001587	stop_gained	0			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.1594G>T	18.37:g.50731606G>T	ENSP00000389140:p.Glu532*			Nonsense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E532*	ENST00000442544.2	37	c.1594	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	39	7.664688	0.98419	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7793	0.91925	0.0:0.0:1.0:0.0	.	.	.	.	X	532;465;380	.	ENSP00000304146:E465X	E	+	1	0	DCC	48985604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.957000	0.56730	2.722000	0.93159	0.655000	0.94253	GAA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.388	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3		0	41	0	G	NM_005215		50731606	1			no_errors	ENST00000442544	ensembl	human	known	74_37	nonsense	9.09	30	3	SNP	1.000	T	T	50731606	G	T	50731606	4	4	126	1	0	0	0	0	0	1	0	0	4291	943	33	3	1632	3	DCC	18	50731606	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	37905700	50731606	27345642	260	32678											
DCC	1630	genome.wustl.edu	37	chr18	50936977	50936977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacgaaattcaaaaggagtgGggccactctctgatcctatc	12	9	9	11	1	2	1	1	1	1	0	5	3	3	2	2	3	0	0	2	3	4	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr18:50936977G>T	ENST00000442544.2	+	20	3707	c.3091G>T	c.(3091-3093)Ggg>Tgg	p.G1031W	DCC_ENST00000412726.1_Missense_Mutation_p.G859W|DCC_ENST00000581580.1_Missense_Mutation_p.G666W	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1031	Fibronectin type-III 6. {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)		AAAAGGAGTGGGGCCACTCTC	0.378																																																	0													100	98	98					18																	50936977		2203	4300	6503	SO:0001583	missense	0			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.3091G>T	18.37:g.50936977G>T	ENSP00000389140:p.Gly1031Trp			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1031W	ENST00000442544.2	37	c.3091	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284892	0.23392	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.64085	-0.08;-0.08	5.87	5.87	0.94306	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87051	0.6081	H	0.96720	3.87	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	0.90345	0.4362	10	0.87932	D	0	-9.1903	19.3531	0.94398	0.0:0.0:1.0:0.0	.	859;859;1031	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	W	1031;859	ENSP00000389140:G1031W;ENSP00000397322:G859W	ENSP00000397322:G859W	G	+	1	0	DCC	49190975	1.000000	0.71417	0.998000	0.56505	0.046000	0.14306	9.660000	0.98599	2.941000	0.99782	0.655000	0.94253	GGG	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	78	0	G	NM_005215		50936977	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	50936977	G	T	50936977	3	4	126	1	0	0	0	0	1	0	0	0	4291	1232	43	3	3169	3	DCC	18	50936977	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	205371	50936977	27140271	261	32679											
SERPINB12	89777	genome.wustl.edu	37	chr18	61231232	61231232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaatcaaggaactcttcaGcaaggacgctattaatgctg	15	10	8	8	1	3	0	2	0	1	0	3	2	3	2	0	2	3	3	0	2	7	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr18:61231232G>T	ENST00000269491.1	+	5	524	c.524G>T	c.(523-525)aGc>aTc	p.S175I	SERPINB12_ENST00000382768.1_Missense_Mutation_p.S195I	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	175					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						GAACTCTTCAGCAAGGACGCT	0.353																																																	0													176	157	164					18																	61231232		2203	4300	6503	SO:0001583	missense	0			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.524G>T	18.37:g.61231232G>T	ENSP00000269491:p.Ser175Ile		Q3SYB4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S175I	ENST00000269491.1	37	c.524	CCDS11984.1	18	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335359	0.41398	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.85411	-1.98;-1.98	5.57	1.01	0.19927	Serpin domain (3);	0.994123	0.08177	N	0.986049	D	0.85915	0.5808	M	0.87682	2.9	0.09310	N	1	P;P	0.42161	0.772;0.655	B;B	0.41036	0.346;0.346	T	0.75196	-0.3403	10	0.72032	D	0.01	.	5.2259	0.15393	0.3445:0.1364:0.5191:0.0	.	195;175	Q3SYB4;Q96P63	.;SPB12_HUMAN	I	175;195	ENSP00000269491:S175I;ENSP00000372218:S195I	ENSP00000269491:S175I	S	+	2	0	SERPINB12	59382212	0.000000	0.05858	0.858000	0.33744	0.943000	0.58893	-1.421000	0.02455	0.248000	0.21435	0.655000	0.94253	AGC	SERPINB12	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000166634		0.353	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB12	HGNC	protein_coding	OTTHUMT00000256197.1	-	0	102	0	G	NM_080474		61231232	1	tier1	-	no_errors	ENST00000269491	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.019	T	T	61231232	G	T	61231232	3	4	126	1	0	0	0	0	1	0	0	0	14144	971	34	3	542	3	SERPINB12	18	61231232	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	10294255	61231232	16846016	262	32680											
FBXO15	201456	genome.wustl.edu	37	chr18	71740731	71740731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccaatggttgatttttgCgatactaagataaaggacca	16	11	8	6	1	0	2	0	1	0	1	0	4	0	3	2	2	3	1	2	2	6	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr18:71740731C>T	ENST00000419743.2	-	10	1577	c.1498G>A	c.(1498-1500)Gca>Aca	p.A500T	FBXO15_ENST00000269500.5_Missense_Mutation_p.A424T|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	500						SCF ubiquitin ligase complex (GO:0019005)		p.A424T(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTGATTTTTGCGATACTAAGA	0.408																																																	1	Substitution - Missense(1)	large_intestine(1)											166	164	165					18																	71740731		2203	4300	6503	SO:0001583	missense	0			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1498G>A	18.37:g.71740731C>T	ENSP00000393154:p.Ala500Thr		B3KST3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.A500T	ENST00000419743.2	37	c.1498	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	c	9.804	1.181231	0.21787	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.42131	0.98;0.98	5.78	3.05	0.35203	.	0.532611	0.21485	N	0.073761	T	0.35219	0.0924	L	0.59436	1.845	0.09310	N	1	B;B	0.22480	0.07;0.041	B;B	0.13407	0.009;0.003	T	0.30268	-0.9984	10	0.52906	T	0.07	-25.1684	6.7033	0.23236	0.0:0.6066:0.1229:0.2705	.	500;424	B3KST3;Q8NCQ5	.;FBX15_HUMAN	T	424;500	ENSP00000269500:A424T;ENSP00000393154:A500T	ENSP00000269500:A424T	A	-	1	0	FBXO15	69891711	0.000000	0.05858	0.006000	0.13384	0.113000	0.19764	0.112000	0.15479	0.810000	0.34279	0.651000	0.88453	GCA	FBXO15	-	NULL	ENSG00000141665		0.408	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	-	0	69	0	C	NM_152676		71740731	-1	tier1	-	no_errors	ENST00000419743	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.008	T	T	71740731	C	T	71740731	3	4	126	1	0	0	0	0	1	0	0	0	5750	768	27	1	38	1	FBXO15	18	71740731	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	10509499	71740731	6336517	263	32681											
ABCA7	10347	genome.wustl.edu	37	chr19	1044733	1044733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgggcacgctgggccGagtgacggaggtgagggcct	5	6	20	10	3	0	2	0	2	0	0	0	4	0	3	3	6	0	2	3	6	0	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:1044733G>T	ENST00000263094.6	+	11	1436	c.1205G>T	c.(1204-1206)cGa>cTa	p.R402L	ABCA7_ENST00000435683.2_Missense_Mutation_p.R264L|ABCA7_ENST00000433129.1_Missense_Mutation_p.R402L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	402					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)		ACGCTGGGCCGAGTGACGGAG	0.672																																																	0													31	29	30					19																	1044733		2191	4293	6484	SO:0001583	missense	0			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.1205G>T	19.37:g.1044733G>T	ENSP00000263094:p.Arg402Leu		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R402L	ENST00000263094.6	37	c.1205	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981217	0.34942	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97455	-4.39;-4.39	4.04	-6.09	0.02145	.	.	.	.	.	D	0.92916	0.7746	L	0.49778	1.585	0.09310	N	1	B;B	0.14438	0.01;0.003	B;B	0.15870	0.014;0.004	D	0.83554	0.0103	9	0.66056	D	0.02	.	4.0607	0.09837	0.5033:0.0:0.2072:0.2895	.	264;402	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	L	402	ENSP00000263094:R402L;ENSP00000414062:R402L	ENSP00000263094:R402L	R	+	2	0	ABCA7	995733	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.473000	0.06615	-0.916000	0.03818	-1.436000	0.01078	CGA	ABCA7	-	NULL	ENSG00000064687		0.672	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	-	0	198	0	G	NM_019112		1044733	1	tier1	-	no_errors	ENST00000263094	ensembl	human	known	74_37	missense	5.00	95	5	SNP	0.001	T	T	1044733	G	T	1044733	3	4	126	1	0	0	0	0	1	0	0	0	37	1058	37	2	1243	2	ABCA7	19	1044733	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		1044733	58084250	264	32682											
MARCH2	51257	genome.wustl.edu	37	chr19	8491528	8491528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggatctgccatgagggagCgaacggggagtgcttgctgt	7	8	17	9	3	1	1	0	1	1	0	1	5	1	4	2	4	5	2	2	4	1	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:8491528C>T	ENST00000602117.1	+	3	667	c.212C>T	c.(211-213)gCg>gTg	p.A71V	RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.A71V|MARCH2_ENST00000215555.2_Missense_Mutation_p.A71V|MARCH2_ENST00000381035.4_Missense_Mutation_p.A71V			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	71					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						CATGAGGGAGCGAACGGGGAG	0.567																																																	0													114	89	97					19																	8491528		2203	4300	6503	SO:0001583	missense	0			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.212C>T	19.37:g.8491528C>T	ENSP00000471536:p.Ala71Val		A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.A71V	ENST00000602117.1	37	c.212	CCDS12202.1	19	.	.	.	.	.	.	.	.	.	.	c	13.41	2.227824	0.39399	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.45276	0.9;0.9;0.9	5.41	4.32	0.51571	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.265034	0.34484	N	0.003925	T	0.30696	0.0773	L	0.35723	1.085	0.24415	N	0.994649	P;P	0.51791	0.948;0.924	B;B	0.38296	0.182;0.27	T	0.34800	-0.9814	10	0.52906	T	0.07	-9.964	12.5194	0.56050	0.0:0.6805:0.3195:0.0	.	71;71	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	V	71	ENSP00000377518:A71V;ENSP00000215555:A71V;ENSP00000370423:A71V	ENSP00000215555:A71V	A	+	2	0	MARCH2	8397528	1.000000	0.71417	0.534000	0.28014	0.280000	0.26924	5.628000	0.67791	2.562000	0.86427	0.574000	0.79327	GCG	MARCH2	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	ENSG00000099785		0.567	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH2	HGNC	protein_coding	OTTHUMT00000460361.2		0	88	0	C	NM_016496		8491528	1			no_errors	ENST00000215555	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.824	T	T	8491528	C	T	8491528	3	4	126	1	0	0	0	0	1	0	0	0	9339	768	27	1	218	1	MARCH2	19	8491528	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	7446795	8491528	50637455	265	32683											
SMARCA4	6597	genome.wustl.edu	37	chr19	11100016	11100016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctcgcatcgcacaccGaattcaggaacttgaaaacc	13	6	9	13	3	1	1	1	1	0	0	3	3	1	2	2	2	2	4	2	2	4	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:11100016G>T	ENST00000429416.3	+	8	1423	c.1142G>T	c.(1141-1143)cGa>cTa	p.R381L	SMARCA4_ENST00000358026.2_Missense_Mutation_p.R381L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R381L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R381L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R381L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R381L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R381L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R381L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R381L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	381					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.R381Q(2)|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)				ATCGCACACCGAATTCAGGAA	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	3	Substitution - Missense(2)|Unknown(1)	large_intestine(2)|lung(1)											88	90	89					19																	11100016		2203	4300	6503	SO:0001583	missense	0			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.1142G>T	19.37:g.11100016G>T	ENSP00000395654:p.Arg381Leu		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.R381L	ENST00000429416.3	37	c.1142	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910643	0.92107	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.11;-3.11;-3.11;-3.11	4.18	4.18	0.49190	.	0.000000	0.64402	D	0.000001	D	0.96153	0.8746	M	0.85542	2.76	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.998;1.0;1.0	D	0.96891	0.9653	10	0.87932	D	0	-8.8962	15.4489	0.75257	0.0:0.0:1.0:0.0	.	381;381;381;381;381;381;381	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	L	381	ENSP00000395654:R381L;ENSP00000350720:R381L;ENSP00000343896:R381L;ENSP00000445036:R381L;ENSP00000392837:R381L;ENSP00000397783:R381L;ENSP00000414727:R381L	ENSP00000343896:R381L	R	+	2	0	SMARCA4	10961016	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.657000	0.98554	2.188000	0.69820	0.462000	0.41574	CGA	SMARCA4	-	NULL	ENSG00000127616		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2		0	94	0	G	NM_003072		11100016	1			no_errors	ENST00000358026	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	11100016	G	T	11100016	3	4	126	1	0	0	0	0	1	0	0	0	14815	1058	37	2	1164	2	SMARCA4	19	11100016	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2608488	11100016	48028967	266	32684											
ZNF709	163051	genome.wustl.edu	37	chr19	12576269	12576269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagttctttcatgtattCgaaatgaacttcgaaagctg	11	15	9	6	2	2	2	1	2	1	0	4	4	2	2	0	0	2	3	0	0	4	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:12576269C>A	ENST00000397732.3	-	4	638	c.467G>T	c.(466-468)cGa>cTa	p.R156L	ZNF709_ENST00000428311.1_Missense_Mutation_p.R156L|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	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)			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTCATGTATTCGAAATGAACT	0.353																																					GBM(33;565 669 12371 29134 51667)												0													82	86	85					19																	12576269		2183	4290	6473	SO:0001583	missense	0			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.467G>T	19.37:g.12576269C>A	ENSP00000380840:p.Arg156Leu		A8K4E6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R156L	ENST00000397732.3	37	c.467	CCDS42504.1	19	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536639	0.27475	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.07800	3.16;3.16	1.77	-2.59	0.06209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.981184	0.08244	N	0.975706	T	0.05318	0.0141	N	0.05592	-0.015	0.09310	N	1	D	0.59767	0.986	P	0.54924	0.764	T	0.12553	-1.0543	10	0.07644	T	0.81	.	3.2615	0.06850	0.1957:0.4305:0.0:0.3737	.	156	Q8N972	ZN709_HUMAN	L	156	ENSP00000380840:R156L;ENSP00000404127:R156L	ENSP00000404127:R156L	R	-	2	0	ZNF709;CTD-2192J16.17	12437269	0.000000	0.05858	0.000000	0.03702	0.760000	0.43138	-1.395000	0.02516	-0.649000	0.05430	0.306000	0.20318	CGA	ZNF709	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000242852		0.353	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF709	HGNC	protein_coding	OTTHUMT00000344088.1		0	80	0	C	NM_152601		12576269	-1			no_errors	ENST00000397732	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.000	A	A	12576269	C	A	12576269	3	1	126	1	0	0	0	0	1	0	0	0	18161	884	31	2	1462	2	ZNF709	19	12576269	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	1476253	12576269	46552714	267	32685											
SYCE2	256126	genome.wustl.edu	37	chr19	13015389	13015389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgttttcgatcagctcctGggctctcttctgcaggatgt	5	15	11	10	1	3	0	1	0	2	0	6	3	4	1	1	2	2	4	1	2	0	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:13015389G>T	ENST00000293695.7	-	3	241	c.223C>A	c.(223-225)Cag>Aag	p.Q75K	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	75					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						ATCAGCTCCTGGGCTCTCTTC	0.542																																																	0													214	216	215					19																	13015389		2089	4223	6312	SO:0001583	missense	0			AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"central element synaptonemal complex 1"	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.223C>A	19.37:g.13015389G>T	ENSP00000293695:p.Gln75Lys		B4DYD3	Missense_Mutation	SNP	NULL	p.Q75K	ENST00000293695.7	37	c.223	CCDS42509.1	19	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741144	0.69304	.	.	ENSG00000161860	ENST00000293695	T	0.80393	-1.37	4.88	3.81	0.43845	.	0.156108	0.43260	D	0.000590	D	0.85452	0.5700	L	0.55481	1.735	0.32503	N	0.538566	D	0.67145	0.996	D	0.72982	0.979	D	0.87578	0.2482	10	0.66056	D	0.02	-0.0058	10.7711	0.46323	0.0:0.1921:0.8079:0.0	.	75	Q6PIF2	SYCE2_HUMAN	K	75	ENSP00000293695:Q75K	ENSP00000293695:Q75K	Q	-	1	0	SYCE2	12876389	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.059000	0.57470	1.231000	0.43661	0.561000	0.74099	CAG	SYCE2	-	NULL	ENSG00000161860		0.542	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCE2	HGNC	protein_coding	OTTHUMT00000451913.1	-	0	60	0	G	XM_497609		13015389	-1	tier1	-	no_errors	ENST00000293695	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	T	T	13015389	G	T	13015389	3	4	126	1	0	0	0	0	1	0	0	0	15476	1357	47	3	449	3	SYCE2	19	13015389	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	439120	13015389	46113594	268	32686											
GIPC1	10755	genome.wustl.edu	37	chr19	14593663	14593664	+	Frame_Shift_Ins	INS	-	-	C																															ggggcaagcccatttgggggINSccccccgacccacctccgcc																										TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:14593663_14593664insC	ENST00000393033.4	-	4	394_395	c.125_126insG	c.(124-126)ggcfs	p.G42fs	GIPC1_ENST00000345425.2_Frame_Shift_Ins_p.G42fs|GIPC1_ENST00000586027.1_Frame_Shift_Ins_p.G42fs|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000393029.3_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	42	Poly-Gly.				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						CCATTTGGGGGCCCCCCGACCC	0.718																																					Pancreas(33;78 923 2910 41023 52850)												0									,,,,,	186,3326		49,88,1619					,,,,,	-3.4	0.1			5	148,6918		28,92,3413	no	intron,frameshift,intron,frameshift,intron,frameshift	GIPC1	NM_202494.1,NM_202470.1,NM_202469.1,NM_202468.1,NM_202467.1,NM_005716.2	,,,,,	77,180,5032	A1A1,A1R,RR		2.0945,5.2961,3.1575	,,,,,	,,,,,		334,10244				SO:0001589	frameshift_variant	0			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.126dupG	19.37:g.14593669_14593669dupC	ENSP00000376753:p.Gly42fs		A8K4I3|A8MZG3|Q9BTC9	Frame_Shift_Ins	INS	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.Q44fs	ENST00000393033.4	37	c.126_125	CCDS12310.1	19																																																																																			GIPC1	-	pirsf_UCP038083_PDZ	ENSG00000123159		0.718	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC1	HGNC	protein_coding	OTTHUMT00000460239.2		0	15	0	0			14593664	-1			no_errors	ENST00000345425	ensembl	human	known	74_37	frame_shift_ins	33.33	4	2	INS	0.668:0.951	C	C	14593664	-	C	14593663	7	5	126	1	0	1	1	0	0	0	0	0	6418	1190	42	0	899	0	GIPC1	19	14593663	Frame_Shift_Ins	INS	-	TCGA-LN-A7HX-01A-11D-A33E-09	1578274	14593663	44535320	269	32687											
ATP13A1	57130	genome.wustl.edu	37	chr19	19764654	19764654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacgcgggctccttccCgggagatctcggtgtggatg	5	8	16	12	4	1	1	0	0	1	1	4	4	3	3	3	5	0	1	3	5	0	1	rs374539785		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:19764654C>A	ENST00000357324.6	-	15	2065	c.2039G>T	c.(2038-2040)cGg>cTg	p.R680L	ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Missense_Mutation_p.R562L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	680						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						GGCTCCTTCCCGGGAGATCTC	0.682																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												0													38	39	39					19																	19764654		2184	4271	6455	SO:0001583	missense	0			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.2039G>T	19.37:g.19764654C>A	ENSP00000349877:p.Arg680Leu		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.R680L	ENST00000357324.6	37	c.2039	CCDS32970.2	19	.	.	.	.	.	.	.	.	.	.	C	31	5.096788	0.94197	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.71341	-0.56;-0.56	5.17	5.17	0.71159	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.051941	0.85682	D	0.000000	T	0.74891	0.3776	M	0.83483	2.645	0.80722	D	1	B;B	0.34061	0.436;0.01	B;B	0.35770	0.21;0.01	T	0.77945	-0.2397	10	0.54805	T	0.06	-31.5144	16.1525	0.81632	0.0:1.0:0.0:0.0	.	680;562	Q9HD20;Q9HD20-2	AT131_HUMAN;.	L	562;680	ENSP00000291503:R562L;ENSP00000349877:R680L	ENSP00000291503:R562L	R	-	2	0	ATP13A1	19625654	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.683000	0.68189	2.423000	0.82170	0.561000	0.74099	CGG	ATP13A1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000105726		0.682	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1		0	98	0	C	NM_020410		19764654	-1			no_errors	ENST00000357324	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	19764654	C	A	19764654	3	1	126	1	0	0	0	0	1	0	0	0	1124	652	23	2	1623	2	ATP13A1	19	19764654	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	5170991	19764654	39364329	270	32688											
ZNF626	199777	genome.wustl.edu	37	chr19	20808428	20808428	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcatgctctgctctggccaAaggtcttgggcaaaatgaga	10	11	11	9	0	4	1	1	1	3	1	4	2	4	1	1	3	2	3	1	3	3	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:20808428A>C	ENST00000601440.1	-	4	401	c.255T>G	c.(253-255)ctT>ctG	p.L85L	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	85					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						GCTCTGGCCAAAGGTCTTGGG	0.303																																																	0													48	54	52					19																	20808428		2168	4281	6449	SO:0001819	synonymous_variant	0			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.255T>G	19.37:g.20808428A>C			Q8N8T4|Q96QM1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L85	ENST00000601440.1	37	c.255	CCDS42535.1	19																																																																																			ZNF626	-	NULL	ENSG00000188171		0.303	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	-	0	120	0	A	NM_145297		20808428	-1	tier1	-	no_errors	ENST00000601440	ensembl	human	known	74_37	silent	34.09	29	15	SNP	0.098	C	C	20808428	A	C	20808428	2	2	126	1	0	0	0	0	0	0	0	1	18098	1	1	4		4	ZNF626	19	20808428	Silent	SNP	A	TCGA-LN-A7HX-01A-11D-A33E-09	1043774	20808428	38320555	271	32689											
CD22	933	genome.wustl.edu	37	chr19	35832675	35832675	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggaagagtgcaaccctGacctgtgagagcgacgccaa	12	4	15	10	2	0	3	0	2	0	2	0	7	0	4	3	2	3	1	3	2	3	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:35832675G>T	ENST00000085219.5	+	9	1908	c.1842G>T	c.(1840-1842)ctG>ctT	p.L614L	CD22_ENST00000594250.1_Silent_p.L437L|CD22_ENST00000544992.2_Silent_p.L614L|CD22_ENST00000270311.6_Silent_p.L494L|CD22_ENST00000341773.6_Silent_p.L437L|CD22_ENST00000419549.2_Silent_p.L442L|CD22_ENST00000536635.2_Silent_p.L526L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	614	Ig-like C2-type 6.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTGCAACCCTGACCTGTGAGA	0.622																																					Ovarian(42;1009 1133 23674 26041)												0													128	103	111					19																	35832675		2203	4300	6503	SO:0001819	synonymous_variant	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1842G>T	19.37:g.35832675G>T			F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L614	ENST00000085219.5	37	c.1842	CCDS12457.1	19																																																																																			CD22	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000012124		0.622	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	-	0	134	0	G	NM_001771		35832675	1	tier1	-	no_errors	ENST00000085219	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.469	T	T	35832675	G	T	35832675	2	4	126	1	0	0	0	0	0	0	0	1	2992	1277	45	3		3	CD22	19	35832675	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	15024247	35832675	23296308	272	32690											
ZNF585B	92285	genome.wustl.edu	37	chr19	37677429	37677429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtaatgaggttggaattaTtgctgaagaccttcccatat	11	14	10	6	0	0	3	0	2	0	1	1	4	1	4	2	2	1	3	2	2	5	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:37677429T>C	ENST00000532828.2	-	5	1261	c.1010A>G	c.(1009-1011)aAt>aGt	p.N337S	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.N282S|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	337					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)			GTTGGAATTATTGCTGAAGAC	0.408																																					Melanoma(93;882 1454 18863 28917 48427)												0													168	153	158					19																	37677429		2203	4300	6503	SO:0001583	missense	0			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.1010A>G	19.37:g.37677429T>C	ENSP00000433773:p.Asn337Ser		Q8IZD3|Q96JW6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N337S	ENST00000532828.2	37	c.1010	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	T	0.052	-1.247645	0.01469	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.07216	3.21;3.21	2.93	-2.09	0.07232	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.809357	0.10398	N	0.679486	T	0.07908	0.0198	N	0.04203	-0.255	0.09310	N	0.999999	P;B	0.38767	0.646;0.004	P;B	0.61722	0.893;0.004	T	0.41378	-0.9512	10	0.20519	T	0.43	.	4.3313	0.11064	0.1628:0.416:0.0:0.4211	.	282;337	E9PQH3;Q52M93	.;Z585B_HUMAN	S	282;337	ENSP00000436774:N282S;ENSP00000433773:N337S	ENSP00000436774:N282S	N	-	2	0	ZNF585B	42369269	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-1.819000	0.01716	-0.695000	0.05105	0.374000	0.22700	AAT	ZNF585B	-	pfscan_Znf_C2H2	ENSG00000245680		0.408	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	-	0	82	0	T	NM_152279		37677429	-1	tier1	-	no_errors	ENST00000532828	ensembl	human	known	74_37	missense	45.16	17	14	SNP	0.000	C	C	37677429	T	C	37677429	3	2	126	1	0	0	0	0	1	0	0	0	18066	1493	52	4	1303	4	ZNF585B	19	37677429	Missense_Mutation	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09	1844754	37677429	21451554	273	32691											
ZNF780B	163131	genome.wustl.edu	37	chr19	40540576	40540576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagaccaaaggcctttccGcattctttacattcaaaggg	13	10	8	10	1	2	2	1	0	1	2	3	2	3	2	3	2	1	1	3	2	4	5	rs376431224		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:40540576G>A	ENST00000434248.1	-	5	2255	c.2190C>T	c.(2188-2190)tgC>tgT	p.C730C	ZNF780B_ENST00000221355.6_Silent_p.C582C	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	730					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)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGGCCTTTCCGCATTCTTTAC	0.403																																																	0								G		1,4391	2.1+/-5.4	0,1,2195	57	62	60		2190	1.4	0.2	19		60	0,8594		0,0,4297	no	coding-synonymous	ZNF780B	NM_001005851.2		0,1,6492	AA,AG,GG		0.0,0.0228,0.0077		730/834	40540576	1,12985	2196	4297	6493	SO:0001819	synonymous_variant	0			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.2190C>T	19.37:g.40540576G>A			B9EH00	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C730	ENST00000434248.1	37	c.2190	CCDS46077.1	19																																																																																			ZNF780B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000128000		0.403	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1		0	84	0	G	NM_001005851		40540576	-1			no_errors	ENST00000434248	ensembl	human	known	74_37	silent	7.32	38	3	SNP	1.000	A	A	40540576	G	A	40540576	2	1	126	1	0	0	0	0	0	0	0	1	18201	1079	38	1		1	ZNF780B	19	40540576	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2863147	40540576	18588407	274	32692											
ZNF223	7766	genome.wustl.edu	37	chr19	44570526	44570526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcattcctgtgatgagtgtgGaaaaagcttctgttacatct	10	15	9	7	0	3	2	1	2	2	0	4	3	4	3	1	1	2	2	1	1	3	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:44570526G>T	ENST00000434772.3	+	5	800	c.545G>T	c.(544-546)gGa>gTa	p.G182V	ZNF223_ENST00000591793.1_Missense_Mutation_p.G292V	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GATGAGTGTGGAAAAAGCTTC	0.428																																																	0													164	162	163					19																	44570526		2203	4300	6503	SO:0001583	missense	0			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.545G>T	19.37:g.44570526G>T	ENSP00000401947:p.Gly182Val		Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G292V	ENST00000434772.3	37	c.875	CCDS12635.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029776	0.75504	.	.	ENSG00000178386	ENST00000434772	T	0.37235	1.21	2.46	1.39	0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63593	0.2524	H	0.96301	3.8	0.80722	D	1	D	0.71674	0.998	P	0.61003	0.882	T	0.67577	-0.5635	9	0.87932	D	0	.	8.0151	0.30376	0.1348:0.0:0.8652:0.0	.	182	Q9UK11	ZN223_HUMAN	V	182	ENSP00000401947:G182V	ENSP00000401947:G182V	G	+	2	0	ZNF223	49262366	0.955000	0.32602	0.608000	0.28969	0.941000	0.58515	1.502000	0.35704	0.352000	0.24053	0.313000	0.20887	GGA	ZNF223	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267022		0.428	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF223	Uniprot_gn	protein_coding	OTTHUMT00000460469.2	-	0	107	0	G			44570526	1	tier1	-	no_errors	ENST00000591793	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	44570526	G	T	44570526	3	4	126	1	0	0	0	0	1	0	0	0	17825	1174	41	3	559	3	ZNF223	19	44570526	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4029950	44570526	14558457	275	32693											
LIG1	3978	genome.wustl.edu	37	chr19	48640270	48640270	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacacgcttacctagcGatgaaccgggcttctgagtg	8	8	12	13	3	1	2	0	2	1	0	1	3	1	2	3	2	3	2	3	2	3	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:48640270G>T	ENST00000263274.7	-	14	1745	c.1326C>A	c.(1324-1326)atC>atA	p.I442I	LIG1_ENST00000427526.2_Silent_p.I411I|LIG1_ENST00000536218.1_Silent_p.I374I	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	442					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|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)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|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)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTACCTAGCGATGAACCGGG	0.582								Nucleotide excision repair (NER)																																									0													55	42	47					19																	48640270		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1326C>A	19.37:g.48640270G>T			B2RAI8|Q2TB12|Q32P23	Silent	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.I442	ENST00000263274.7	37	c.1326	CCDS12711.1	19																																																																																			LIG1	-	pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep	ENSG00000105486		0.582	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	-	0	72	0	G	NM_000234		48640270	-1	tier1	-	no_errors	ENST00000263274	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.986	T	T	48640270	G	T	48640270	2	4	126	1	0	0	0	0	0	0	0	1	8810	1048	37	2		2	LIG1	19	48640270	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	4069744	48640270	10488713	276	32694											
BCAT2	587	genome.wustl.edu	37	chr19	49299887	49299887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacctggcaagcggtgcccGagccaaagacttcccgcacg	10	4	12	15	4	0	2	0	0	0	2	1	3	1	2	4	2	3	2	4	2	2	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:49299887G>A	ENST00000316273.6	-	9	1025	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	BCAT2_ENST00000402551.1_Missense_Mutation_p.S298L|BCAT2_ENST00000597011.1_Missense_Mutation_p.S298L|BCAT2_ENST00000599246.1_Missense_Mutation_p.S246L|BCAT2_ENST00000545387.2_Missense_Mutation_p.S246L|BCAT2_ENST00000598162.1_Missense_Mutation_p.S338L	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	338					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		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;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	AGCGGTGCCCGAGCCAAAGAC	0.662																																																	0													52	53	53					19																	49299887		2203	4300	6503	SO:0001583	missense	0			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"branched chain aminotransferase 2, mitochondrial"	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.1013C>T	19.37:g.49299887G>A	ENSP00000322991:p.Ser338Leu		B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.S338L	ENST00000316273.6	37	c.1013	CCDS12735.1	19	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716059	0.89205	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.21361	2.01;2.01;2.01	4.7	4.7	0.59300	.	0.150880	0.44285	D	0.000464	T	0.52451	0.1735	M	0.90650	3.135	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	D;D;P;D	0.68039	0.938;0.955;0.897;0.955	T	0.62586	-0.6823	10	0.72032	D	0.01	-8.0395	15.5312	0.75964	0.0:0.0:1.0:0.0	.	298;338;246;338	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	L	338;246;298	ENSP00000322991:S338L;ENSP00000440973:S246L;ENSP00000385161:S298L	ENSP00000322991:S338L	S	-	2	0	BCAT2	53991699	1.000000	0.71417	0.974000	0.42286	0.620000	0.37586	8.713000	0.91408	2.607000	0.88179	0.561000	0.74099	TCG	BCAT2	-	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	ENSG00000105552		0.662	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAT2	HGNC	protein_coding	OTTHUMT00000466202.1	-	0	108	0	G			49299887	-1	tier1	-	no_errors	ENST00000316273	ensembl	human	known	74_37	missense	25.00	35	12	SNP	0.998	A	A	49299887	G	A	49299887	3	1	126	1	0	0	0	0	1	0	0	0	1356	1059	37	1	177	1	BCAT2	19	49299887	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	659617	49299887	9829096	277	32695											
PRR12	57479	genome.wustl.edu	37	chr19	50117865	50117865	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctgcagaaattcactccgGagatcaaggacggccagagg	12	7	12	10	2	3	3	2	0	1	3	4	5	4	4	2	4	1	1	2	4	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:50117865G>T	ENST00000418929.2	+	7	4861	c.4849G>T	c.(4849-4851)Gag>Tag	p.E1617*		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	796							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)		ATTCACTCCGGAGATCAAGGA	0.617																																																	0													25	26	26					19																	50117865		1915	4106	6021	SO:0001587	stop_gained	0			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.4849G>T	19.37:g.50117865G>T	ENSP00000394510:p.Glu1617*		E9PB06|Q8N4J6	Nonsense_Mutation	SNP	NULL	p.E1617*	ENST00000418929.2	37	c.4849	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	G	43	9.979913	0.99309	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.12	4.12	0.48240	.	0.000000	0.41001	D	0.000971	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.1752	15.3097	0.74023	0.0:0.0:1.0:0.0	.	.	.	.	X	1617;797;797	.	ENSP00000246798:E797X	E	+	1	0	PRR12	54809677	1.000000	0.71417	0.957000	0.39632	0.461000	0.32589	8.848000	0.92172	2.147000	0.66899	0.467000	0.42956	GAG	PRR12	-	NULL	ENSG00000126464		0.617	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	-	0	100	0	G	NM_020719		50117865	1	tier1	-	no_errors	ENST00000418929	ensembl	human	novel	74_37	nonsense	8.16	45	4	SNP	0.998	T	T	50117865	G	T	50117865	4	4	126	1	0	0	0	0	0	1	0	0	12626	1175	41	3	4875	3	PRR12	19	50117865	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	817978	50117865	9011118	278	32696											
KLK1	3816	genome.wustl.edu	37	chr19	51324991	51324991	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgcaatgagcagctgtGagcacccactggcggtgcac	9	7	13	12	1	0	3	0	3	0	0	0	3	0	3	1	2	5	5	1	2	1	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:51324991G>T	ENST00000301420.2	-	2	218	c.183C>A	c.(181-183)ctC>ctA	p.L61L	KLK1_ENST00000448701.2_5'UTR|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	61	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GAGCAGCTGTGAGCACCCACT	0.617																																																	0													37	32	34					19																	51324991		2203	4300	6503	SO:0001819	synonymous_variant	0			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"Kallikreins"	6357	protein-coding gene	gene with protein product		147910	"kallikrein 1, renal/pancreas/salivary"			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.183C>A	19.37:g.51324991G>T			Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.L61	ENST00000301420.2	37	c.183	CCDS12804.1	19																																																																																			KLK1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	ENSG00000167748		0.617	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK1	HGNC	protein_coding	OTTHUMT00000464135.2	-	0	94	0	G	NM_002257		51324991	-1	tier1	-	no_errors	ENST00000301420	ensembl	human	known	74_37	silent	16.67	20	4	SNP	1.000	T	T	51324991	G	T	51324991	2	4	126	1	0	0	0	0	0	0	0	1	8424	1277	45	3		3	KLK1	19	51324991	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	1207126	51324991	7803992	279	32697											
ZNF320	162967	genome.wustl.edu	37	chr19	53384797	53384797	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcttaaaagccttgtcGcaaaccttacatttgtatgg	11	14	7	9	1	1	0	1	0	0	0	2	0	1	0	2	1	4	3	2	1	5	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr19:53384797G>T	ENST00000595635.1	-	8	1083	c.582C>A	c.(580-582)tgC>tgA	p.C194*	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Nonsense_Mutation_p.C194*|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		AAGCCTTGTCGCAAACCTTAC	0.358																																																	0													86	79	81					19																	53384797		2203	4300	6503	SO:0001587	stop_gained	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.582C>A	19.37:g.53384797G>T	ENSP00000473091:p.Cys194*		Q8NDR6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C194*	ENST00000595635.1	37	c.582	CCDS33095.1	19	.	.	.	.	.	.	.	.	.	.	-	18.20	3.571988	0.65765	.	.	ENSG00000182986	ENST00000391781	.	.	.	1.75	1.75	0.24633	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2561	0.15548	0.6831:0.0:0.3169:0.0	.	.	.	.	X	194	.	ENSP00000375660:C194X	C	-	3	2	ZNF320	58076609	0.014000	0.17966	0.006000	0.13384	0.229000	0.25112	0.190000	0.17057	-0.022000	0.13986	-1.220000	0.01600	TGC	ZNF320	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182986		0.358	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1		0	98	0	G	NM_207333		53384797	-1			no_errors	ENST00000391781	ensembl	human	known	74_37	nonsense	6.52	43	3	SNP	0.993	T	T	53384797	G	T	53384797	4	4	126	1	0	0	0	0	0	1	0	0	17887	1079	38	2	951	2	ZNF320	19	53384797	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	2059806	53384797	5744186	280	32698											
SIRPG	55423	genome.wustl.edu	37	chr20	1615975	1615975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctagggcaaggcgtttgCtgaccgccagctgcccatca	7	8	11	15	2	2	1	1	1	1	0	2	1	2	1	4	2	3	4	4	2	2	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr20:1615975C>T	ENST00000303415.3	-	4	1083	c.1019G>A	c.(1018-1020)aGc>aAc	p.S340N	SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000437384.1_RNA|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000381580.1_Missense_Mutation_p.S307N	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	340	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AAGGCGTTTGCTGACCGCCAG	0.498																																																	0													112	92	98					20																	1615975		2203	4300	6503	SO:0001583	missense	0			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.1019G>A	20.37:g.1615975C>T	ENSP00000305529:p.Ser340Asn		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S340N	ENST00000303415.3	37	c.1019	CCDS13020.2	20	.	.	.	.	.	.	.	.	.	.	.	3.140	-0.176426	0.06380	.	.	ENSG00000089012	ENST00000381580;ENST00000303415	T;T	0.12039	3.15;2.72	1.6	-2.48	0.06423	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.015180	0.07876	N	0.968769	T	0.09423	0.0232	L	0.35723	1.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38542	-0.9656	10	0.33141	T	0.24	.	4.7498	0.13056	0.0:0.4559:0.3162:0.2278	.	340	Q9P1W8	SIRPG_HUMAN	N	307;340	ENSP00000370992:S307N;ENSP00000305529:S340N	ENSP00000305529:S340N	S	-	2	0	SIRPG	1563975	0.051000	0.20477	0.003000	0.11579	0.015000	0.08874	-0.321000	0.08018	-0.626000	0.05596	-1.076000	0.02234	AGC	SIRPG	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000089012		0.498	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPG	HGNC	protein_coding	OTTHUMT00000077566.2		0	100	0	C	NM_018556		1615975	-1			no_errors	ENST00000303415	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.005	T	T	1615975	C	T	1615975	3	4	126	1	0	0	0	0	1	0	0	0	14381	797	28	3	152	3	SIRPG	20	1615975	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09		1615975	61409545	281	32699											
HAO1	54363	genome.wustl.edu	37	chr20	7894903	7894903	+	Silent	SNP	G	G	T	0	0	1	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	gtcacaaatatggccttgtaGcccatcttctctgcctgccg	7	12	8	14	1	3	0	1	0	2	0	4	0	3	0	4	1	3	1	4	1	3	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr20:7894903G>T	ENST00000378789.3	-	3	504	c.453C>A	c.(451-453)ggC>ggA	p.G151G		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	151	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGGCCTTGTAGCCCATCTTCT	0.522																																																	0													236	146	176					20																	7894903		2203	4300	6503	SO:0001819	synonymous_variant	0			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.453C>A	20.37:g.7894903G>T			Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.G151	ENST00000378789.3	37	c.453	CCDS13100.1	20																																																																																			HAO1	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN	ENSG00000101323		0.522	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	HGNC	protein_coding	OTTHUMT00000077926.2	-	0	80	0	G			7894903	-1	tier1	-	no_errors	ENST00000378789	ensembl	human	known	74_37	silent	11.76	45	6	SNP	0.970	T	T	7894903	G	T	7894903	2	4	126	1	0	0	0	0	0	0	0	1	6978	958	34	3		3	HAO1	20	7894903	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	6278928	7894903	55130617	282	32700											
C20orf12	55184	genome.wustl.edu	37	chr20	18370413	18370413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgcttcatggtgcttattCataacagccacggttatgac	10	13	8	10	2	2	1	2	1	0	0	3	1	2	1	1	2	3	3	1	2	3	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr20:18370413C>A	ENST00000358866.6	-	18	1972	c.1950G>T	c.(1948-1950)atG>atT	p.M650I	DZANK1_ENST00000262547.5_Missense_Mutation_p.M650I|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000357236.4_Missense_Mutation_p.M536I|DZANK1_ENST00000329494.5_Missense_Mutation_p.M628I			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	650							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GGTGCTTATTCATAACAGCCA	0.512																																																	0													146	149	148					20																	18370413		2064	4209	6273	SO:0001583	missense	0			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.1950G>T	20.37:g.18370413C>A	ENSP00000351734:p.Met650Ile		B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.M650I	ENST00000358866.6	37	c.1950	CCDS46582.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.334|9.334	1.061398|1.061398	0.19987|0.19987	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236|ENST00000358866	T;T;T;T|.	0.62788|.	-0.0;-0.0;-0.0;-0.0|.	5.88|5.88	2.47|2.47	0.30058|0.30058	.|.	0.620830|.	0.16229|.	N|.	0.223708|.	T|.	0.26340|.	0.0643|.	L|L	0.33668|0.33668	1.02|1.02	0.24949|0.24949	N|N	0.991808|0.991808	B;B;B;B|.	0.11235|.	0.001;0.004;0.002;0.001|.	B;B;B;B|.	0.10450|.	0.005;0.004;0.003;0.005|.	T|.	0.19386|.	-1.0307|.	10|.	0.46703|.	T|.	0.11|.	-0.8076|-0.8076	4.1168|4.1168	0.10086|0.10086	0.1414:0.4448:0.3164:0.0974|0.1414:0.4448:0.3164:0.0974	.|.	669;536;650;435|.	B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0|.	.;.;DZAN1_HUMAN;.|.	I|L	483;650;628;482;435;536|449	ENSP00000366857:M483I;ENSP00000262547:M650I;ENSP00000328866:M628I;ENSP00000349774:M536I|.	ENSP00000262547:M650I|.	M|X	-|-	3|2	0|2	C20orf12|C20orf12	18318413|18318413	0.187000|0.187000	0.23238|0.23238	0.974000|0.974000	0.42286|0.42286	0.051000|0.051000	0.14879|0.14879	-0.153000|-0.153000	0.10144|0.10144	0.764000|0.764000	0.33197|0.33197	0.655000|0.655000	0.94253|0.94253	ATG|TGA	DZANK1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000089091		0.512	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1	-	0	43	0	C	NM_001099407		18370413	-1	tier1	-	no_errors	ENST00000262547	ensembl	human	known	74_37	missense	10.53	33	4	SNP	0.993	A	A	18370413	C	A	18370413	3	1	126	1	0	0	0	0	1	0	0	0	2092	826	29	3	320	3	C20orf12	20	18370413	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	10475510	18370413	44655107	283	32701											
VSX1	30813	genome.wustl.edu	37	chr20	25058370	25058370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggccgccctcggcggagttGagcacggagtctggcagcgg	6	5	18	12	5	1	1	0	1	1	0	2	3	1	3	2	6	2	3	2	6	0	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr20:25058370G>A	ENST00000376709.4	-	4	1022	c.759C>T	c.(757-759)ctC>ctT	p.L253L	VSX1_ENST00000424574.1_Silent_p.L253L|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Silent_p.L253L	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	253	CVC. {ECO:0000255|PROSITE- ProRule:PRU00829}.				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						CGGCGGAGTTGAGCACGGAGT	0.711											OREG0032118	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																																					0													9	11	10					20																	25058370		2018	3924	5942	SO:0001819	synonymous_variant	0			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.759C>T	20.37:g.25058370G>A		776	B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L253	ENST00000376709.4	37	c.759	CCDS13168.1	20																																																																																			VSX1	-	NULL	ENSG00000100987		0.711	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX1	HGNC	protein_coding	OTTHUMT00000078384.3	-	0	33	0	G			25058370	-1	tier1	-	no_errors	ENST00000376709	ensembl	human	known	74_37	silent	25.00	21	7	SNP	0.995	A	A	25058370	G	A	25058370	2	1	126	1	0	0	0	0	0	0	0	1	17280	1277	45	3		3	VSX1	20	25058370	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	6687957	25058370	37967150	284	32702											
PYGB	5834	genome.wustl.edu	37	chr20	25262690	25262690	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaaggatttttatgaactGgagccagagaagttccagaa	14	12	10	5	0	0	3	0	1	0	2	1	6	1	5	2	2	2	1	2	2	5	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr20:25262690G>T	ENST00000216962.4	+	12	1535	c.1425G>T	c.(1423-1425)ctG>ctT	p.L475L		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	475					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTATGAACTGGAGCCAGAGA	0.527																																																	0													72	76	75					20																	25262690		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1425G>T	20.37:g.25262690G>T			Q96AK1|Q9NPX8	Silent	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.L475	ENST00000216962.4	37	c.1425	CCDS13171.1	20																																																																																			PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100994		0.527	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	-	0	112	0	G	NM_002862		25262690	1	tier1	-	no_errors	ENST00000216962	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.978	T	T	25262690	G	T	25262690	2	4	126	1	0	0	0	0	0	0	0	1	12905	1335	47	3		3	PYGB	20	25262690	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	204320	25262690	37762830	285	32703											
ZNF341	84905	genome.wustl.edu	37	chr20	32332933	32332933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgaggatgtatttctctgcgGgaagtgtaagaagcaattca	12	11	12	6	2	2	1	1	0	1	1	3	4	2	3	0	2	2	3	0	2	5	4			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr20:32332933G>T	ENST00000375200.1	+	3	532	c.167G>T	c.(166-168)gGg>gTg	p.G56V	ZNF341_ENST00000342427.2_Missense_Mutation_p.G56V	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	56					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(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TTTCTCTGCGGGAAGTGTAAG	0.522																																																	0													79	77	77					20																	32332933		2203	4300	6503	SO:0001583	missense	0			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.167G>T	20.37:g.32332933G>T	ENSP00000364346:p.Gly56Val		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G56V	ENST00000375200.1	37	c.167		20	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018983	0.93404	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.37915	1.17;1.17	5.58	5.58	0.84498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43458	-0.9390	10	0.38643	T	0.18	-25.7077	19.5711	0.95419	0.0:0.0:1.0:0.0	.	56;56	Q9BYN7;Q9BYN7-2	ZN341_HUMAN;.	V	56	ENSP00000344308:G56V;ENSP00000364346:G56V	ENSP00000344308:G56V	G	+	2	0	ZNF341	31796594	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.365000	0.97139	2.638000	0.89438	0.563000	0.77884	GGG	ZNF341	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000131061		0.522	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		-	0	56	0	G			32332933	1	tier1	-	no_errors	ENST00000375200	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	32332933	G	T	32332933	3	4	126	1	0	0	0	0	1	0	0	0	17905	1232	43	3	177	3	ZNF341	20	32332933	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	7070243	32332933	30692587	286	32704											
NCOA6	23054	genome.wustl.edu	37	chr20	33329257	33329257	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgatgggattggaagtGacaaatacagttatttgatt	12	15	12	2	0	0	3	0	3	0	0	0	5	0	5	0	2	1	2	0	2	4	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr20:33329257G>T	ENST00000374796.2	-	12	7373	c.4803C>A	c.(4801-4803)gtC>gtA	p.V1601V	NCOA6_ENST00000359003.2_Silent_p.V1601V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1601					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						GATTGGAAGTGACAAATACAG	0.463																																																	0													116	106	109					20																	33329257		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4803C>A	20.37:g.33329257G>T			A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	NULL	p.V1601	ENST00000374796.2	37	c.4803	CCDS13241.1	20																																																																																			NCOA6	-	NULL	ENSG00000198646		0.463	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	-	0	79	0	G	NM_014071		33329257	-1	tier1	-	no_errors	ENST00000359003	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.498	T	T	33329257	G	T	33329257	2	4	126	1	0	0	0	0	0	0	0	1	10272	1277	45	3		3	NCOA6	20	33329257	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	996324	33329257	29696263	287	32705											
PHF20	51230	genome.wustl.edu	37	chr20	34459023	34459023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatacggatcctttgcaaGacacgttgtctagtaccaag	11	12	9	9	2	1	2	0	1	1	1	2	3	2	3	2	1	3	3	2	1	5	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr20:34459023G>T	ENST00000374012.3	+	8	1198	c.1069G>T	c.(1069-1071)Gac>Tac	p.D357Y	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	357					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)					TCCTTTGCAAGACACGTTGTC	0.448																																																	0													184	163	170					20																	34459023		2203	4300	6503	SO:0001583	missense	0			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.1069G>T	20.37:g.34459023G>T	ENSP00000363124:p.Asp357Tyr		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2	p.D357Y	ENST00000374012.3	37	c.1069	CCDS13268.1	20	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934888	0.52866	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.50813	1.34;0.73;0.73	5.41	3.31	0.37934	.	0.845571	0.10743	N	0.639259	T	0.47544	0.1451	L	0.47716	1.5	0.22684	N	0.99885	P;D	0.56287	0.799;0.975	B;P	0.50659	0.425;0.647	T	0.34700	-0.9818	10	0.66056	D	0.02	.	4.8146	0.13360	0.1372:0.2242:0.6386:0.0	.	357;357	Q9BVI0;Q66K49	PHF20_HUMAN;.	Y	357	ENSP00000363124:D357Y;ENSP00000341900:D357Y;ENSP00000363112:D357Y	ENSP00000341900:D357Y	D	+	1	0	PHF20	33922437	1.000000	0.71417	0.528000	0.27938	0.937000	0.57800	2.243000	0.43115	0.499000	0.27970	0.591000	0.81541	GAC	PHF20	-	NULL	ENSG00000025293		0.448	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF20	HGNC	protein_coding	OTTHUMT00000078949.2	-	0	112	0	G	NM_016436		34459023	1	tier1	-	no_errors	ENST00000374012	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.029	T	T	34459023	G	T	34459023	3	4	126	1	0	0	0	0	1	0	0	0	11870	942	33	3	1095	3	PHF20	20	34459023	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	1129766	34459023	28566497	288	32706											
TSHZ2	128553	genome.wustl.edu	37	chr20	51871834	51871834	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaagatgaagcggtgaagGagtgtgggaaagaaagtccc	16	5	15	5	1	0	4	0	2	0	2	1	6	1	6	1	3	1	0	1	3	5	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr20:51871834G>T	ENST00000371497.5	+	2	2724	c.1837G>T	c.(1837-1839)Gag>Tag	p.E613*	TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.E610*|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.E610*	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	613					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)			AGCGGTGAAGGAGTGTGGGAA	0.493																																																	0													89	90	90					20																	51871834		2203	4300	6503	SO:0001587	stop_gained	0			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.1837G>T	20.37:g.51871834G>T	ENSP00000360552:p.Glu613*		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Nonsense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.E613*	ENST00000371497.5	37	c.1837	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	42	9.442975	0.99172	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	.	.	.	5.44	3.43	0.39272	.	0.260506	0.39341	N	0.001392	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	0.4583	9.1113	0.36730	0.0779:0.1473:0.7748:0.0	.	.	.	.	X	613;610;139	.	ENSP00000333114:E610X	E	+	1	0	TSHZ2	51305241	1.000000	0.71417	0.863000	0.33907	0.201000	0.24016	5.052000	0.64263	0.621000	0.30232	0.643000	0.83706	GAG	TSHZ2	-	NULL	ENSG00000182463		0.493	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6		0	56	0	G	NM_173485		51871834	1			no_errors	ENST00000371497	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	T	T	51871834	G	T	51871834	4	4	126	1	0	0	0	0	0	1	0	0	16672	1175	41	3	1843	3	TSHZ2	20	51871834	Nonsense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	17412811	51871834	11153686	289	32707											
TUBB1	81027	genome.wustl.edu	37	chr20	57598917	57598917	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcgggggcacaggctcCgggatgggcactctgctcat	5	7	17	12	2	2	0	1	0	1	0	3	1	3	1	1	6	1	4	1	6	0	0			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr20:57598917C>T	ENST00000217133.1	+	4	704	c.435C>T	c.(433-435)tcC>tcT	p.S145S		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	145					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GCACAGGCTCCGGGATGGGCA	0.582																																																	0													87	97	94					20																	57598917		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.435C>T	20.37:g.57598917C>T				Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.S145	ENST00000217133.1	37	c.435	CCDS13475.1	20																																																																																			TUBB1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin	ENSG00000101162		0.582	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1	-	0	55	0	C	NM_030773		57598917	1	tier1	-	no_errors	ENST00000217133	ensembl	human	known	74_37	silent	18.00	41	9	SNP	0.000	T	T	57598917	C	T	57598917	2	4	126	1	0	0	0	0	0	0	0	1	16802	639	23	1		1	TUBB1	20	57598917	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	5727083	57598917	5426603	290	32708											
NTSR1	4923	genome.wustl.edu	37	chr20	61389685	61389685	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcctcatgttctgctaCatctcggatgagcagtggac	7	10	12	12	3	3	1	1	1	2	0	4	3	3	3	1	3	3	3	1	3	1	2			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr20:61389685C>T	ENST00000370501.3	+	3	1355	c.984C>T	c.(982-984)taC>taT	p.Y328Y	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	328	Neurotensin binding. {ECO:0000250}.				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)	p.Y328*(1)		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)			TGTTCTGCTACATCTCGGATG	0.592																																					GBM(37;400 780 6403 19663 35669)												1	Substitution - Nonsense(1)	lung(1)											146	103	118					20																	61389685		2203	4300	6503	SO:0001819	synonymous_variant	0				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.984C>T	20.37:g.61389685C>T			Q9H4H1|Q9H4T5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt	p.Y328	ENST00000370501.3	37	c.984	CCDS13502.1	20																																																																																			NTSR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT_rcpt	ENSG00000101188		0.592	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR1	HGNC	protein_coding	OTTHUMT00000080061.1		0	37	0	C			61389685	1			no_errors	ENST00000370501	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.993	T	T	61389685	C	T	61389685	2	4	126	1	0	0	0	0	0	0	0	1	10749	489	17	3		3	NTSR1	20	61389685	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	3790768	61389685	1635835	291	32709											
SFRS15	57466	genome.wustl.edu	37	chr21	33043731	33043731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaacgaggagcctctgctGctgagccagaatccttttcg	8	11	10	12	2	2	2	0	1	2	1	4	4	3	3	3	1	5	2	3	1	2	3	rs199740634	byFrequency	TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr21:33043731G>T	ENST00000286835.7	-	20	3807	c.3425C>A	c.(3424-3426)gCa>gAa	p.A1142E	SCAF4_ENST00000434667.3_Missense_Mutation_p.A1127E|SCAF4_ENST00000399804.1_Missense_Mutation_p.A1120E	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1142						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						AGCCTCTGCTGCTGAGCCAGA	0.498																																																	0													58	51	54					21																	33043731		2203	4300	6503	SO:0001583	missense	0			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.3425C>A	21.37:g.33043731G>T	ENSP00000286835:p.Ala1142Glu		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.A1142E	ENST00000286835.7	37	c.3425	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076972	0.55753	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.51817	0.73;0.69;0.7	5.93	5.01	0.66863	.	0.312729	0.27778	N	0.017893	T	0.50205	0.1602	N	0.19112	0.55	0.29237	N	0.872882	D;P;B	0.71674	0.998;0.467;0.337	D;B;B	0.73708	0.981;0.215;0.107	T	0.47787	-0.9090	10	0.72032	D	0.01	-15.4045	9.6631	0.39967	0.103:0.1596:0.7374:0.0	.	1127;1120;1142	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	E	1127;1142;1120	ENSP00000402377:A1127E;ENSP00000286835:A1142E;ENSP00000382703:A1120E	ENSP00000286835:A1142E	A	-	2	0	SCAF4	31965602	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.233000	0.32648	2.826000	0.97356	0.655000	0.94253	GCA	SCAF4	-	NULL	ENSG00000156304		0.498	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	-	0	74	0	G	XM_047889		33043731	-1	tier1	-	no_errors	ENST00000286835	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.958	T	T	33043731	G	T	33043731	3	4	126	1	0	0	0	0	1	0	0	0	14216	1319	46	3	22	3	SFRS15	21	33043731	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09		33043731	15086164	292	32710											
GART	2618	genome.wustl.edu	37	chr21	34894556	34894556	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcatatttccagctgcGatatctactccagattcctt	10	13	5	13	1	1	1	0	0	1	1	4	2	4	1	4	0	4	2	4	0	3	6			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr21:34894556G>T	ENST00000381831.3	-	12	1595	c.1332C>A	c.(1330-1332)atC>atA	p.I444I	GART_ENST00000381839.3_Silent_p.I444I|GART_ENST00000381815.4_Silent_p.I444I|GART_ENST00000543717.1_5'UTR	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	444	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TTCCAGCTGCGATATCTACTC	0.333																																																	0													105	93	97					21																	34894556		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1332C>A	21.37:g.34894556G>T			A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.I444	ENST00000381831.3	37	c.1332	CCDS13627.1	21																																																																																			GART	-	superfamily_PurM_N-like,tigrfam_PurM_cligase	ENSG00000159131		0.333	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3		0	90	0	G	NM_000819		34894556	-1			no_errors	ENST00000381815	ensembl	human	known	74_37	silent	10.34	26	3	SNP	0.997	T	T	34894556	G	T	34894556	2	4	126	1	0	0	0	0	0	0	0	1	6268	1048	37	2		2	GART	21	34894556	Silent	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	1850825	34894556	13235339	293	32711											
GAB4	128954	genome.wustl.edu	37	chr22	17443733	17443733	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccacctggacatagtccaCcttcttgccggacgtgacag	9	9	9	14	2	1	1	0	1	1	0	3	3	3	3	5	2	1	0	5	2	1	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr22:17443733C>G	ENST00000400588.1	-	10	1722	c.1615G>C	c.(1615-1617)Gtg>Ctg	p.V539L		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	539										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)				ACATAGTCCACCTTCTTGCCG	0.607																																																	0													51	53	52					22																	17443733		2200	4300	6500	SO:0001583	missense	0			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.1615G>C	22.37:g.17443733C>G	ENSP00000383431:p.Val539Leu			Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V539L	ENST00000400588.1	37	c.1615	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641765	0.47153	.	.	ENSG00000215568	ENST00000400588	T	0.22134	1.97	2.55	2.55	0.30701	.	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	M	0.63843	1.955	0.30926	N	0.727499	D	0.58970	0.984	D	0.67548	0.952	T	0.38714	-0.9648	10	0.87932	D	0	.	11.2067	0.48773	0.0:1.0:0.0:0.0	.	539	Q2WGN9	GAB4_HUMAN	L	539	ENSP00000383431:V539L	ENSP00000383431:V539L	V	-	1	0	GAB4	15823733	1.000000	0.71417	0.996000	0.52242	0.009000	0.06853	6.882000	0.75589	1.722000	0.51474	0.609000	0.83330	GTG	GAB4	-	NULL	ENSG00000215568		0.607	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1		0	37	0	C	XM_372882		17443733	-1			no_errors	ENST00000400588	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	G	G	17443733	C	G	17443733	3	3	126	1	0	0	0	0	1	0	0	0	6175	507	18	5	113	5	GAB4	22	17443733	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09		17443733	33860833	294	32712											
MAPK1	5594	genome.wustl.edu	37	chr22	22127181	22127181	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcgtcactcgggtcgtaaTactgctccagatatgggtgg	7	11	12	11	3	1	1	1	0	0	1	5	1	2	1	2	3	2	2	2	3	3	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr22:22127181T>C	ENST00000215832.6	-	7	1135	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	MAPK1_ENST00000544786.1_Missense_Mutation_p.Y272C|MAPK1_ENST00000398822.3_Missense_Mutation_p.Y316C	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	316					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|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 protein stability (GO:0031647)|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 estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|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)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	CGGGTCGTAATACTGCTCCAG	0.473																																																	0													198	159	172					22																	22127181		2203	4300	6503	SO:0001583	missense	0			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.947A>G	22.37:g.22127181T>C	ENSP00000215832:p.Tyr316Cys		A8CZ64	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.Y316C	ENST00000215832.6	37	c.947	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246515	0.80024	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.45276	0.9;0.9;0.9	4.96	4.96	0.65561	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	H	0.96748	3.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.84702	0.0729	10	0.87932	D	0	-2.3719	15.087	0.72162	0.0:0.0:0.0:1.0	.	272;316	A8CZ64;P28482	.;MK01_HUMAN	C	316;304;316;272	ENSP00000215832:Y316C;ENSP00000381803:Y316C;ENSP00000440842:Y272C	ENSP00000215832:Y316C	Y	-	2	0	MAPK1	20457181	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.778000	0.85637	2.201000	0.70794	0.533000	0.62120	TAT	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2	ENSG00000100030		0.473	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	-	0	80	0	T			22127181	-1	tier1	-	no_errors	ENST00000215832	ensembl	human	known	74_37	missense	12.12	58	8	SNP	1.000	C	C	22127181	T	C	22127181	3	2	126	1	0	0	0	0	1	0	0	0	9309	1406	49	4	143	4	MAPK1	22	22127181	Missense_Mutation	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09	4683448	22127181	29177385	295	32713											
CYTSA	23384	genome.wustl.edu	37	chr22	24718602	24718602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgaattattgagtctgagCagaaaggaaaagcagccttg	15	8	12	6	1	1	3	0	2	1	1	1	5	1	4	1	1	4	2	1	1	5	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr22:24718602C>A	ENST00000314328.9	+	5	1939	c.1654C>A	c.(1654-1656)Cag>Aag	p.Q552K	SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.Q552K|SPECC1L_ENST00000437398.1_Missense_Mutation_p.Q552K|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.Q552K	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	552					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						TGAGTCTGAGCAGAAAGGAAA	0.463																																																	0													54	52	52					22																	24718602		2203	4300	6503	SO:0001583	missense	0			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.1654C>A	22.37:g.24718602C>A	ENSP00000325785:p.Gln552Lys		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain	p.Q552K	ENST00000314328.9	37	c.1654	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350162	0.41599	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.58797	0.31;2.79;0.31;3.31	5.5	5.5	0.81552	.	0.049245	0.85682	D	0.000000	T	0.45175	0.1329	N	0.17474	0.49	0.46279	D	0.998969	B;B	0.25667	0.061;0.131	B;B	0.26202	0.067;0.058	T	0.31530	-0.9940	10	0.32370	T	0.25	-24.3307	18.3864	0.90468	0.0:1.0:0.0:0.0	.	552;552	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	K	580;552;552;552;552	ENSP00000393363:Q552K;ENSP00000405671:Q552K;ENSP00000325785:Q552K;ENSP00000439633:Q552K	ENSP00000325785:Q552K	Q	+	1	0	SPECC1L	23048602	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.896000	0.48656	2.597000	0.87782	0.655000	0.94253	CAG	SPECC1L	-	NULL	ENSG00000100014		0.463	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2		0	76	0	C	NM_015330		24718602	1			no_errors	ENST00000314328	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A	A	24718602	C	A	24718602	3	1	126	1	0	0	0	0	1	0	0	0	4218	711	25	3	1664	3	CYTSA	22	24718602	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	2591421	24718602	26585964	296	32714											
TCF20	6942	genome.wustl.edu	37	chr22	42608243	42608243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtctccccctgggcctctGctccgcccaggagacatttt	4	10	11	16	1	2	1	0	0	2	1	4	2	3	1	5	3	1	1	5	3	0	2	rs140878533		TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr22:42608243G>T	ENST00000359486.3	-	1	3205	c.3069C>A	c.(3067-3069)agC>agA	p.S1023R	TCF20_ENST00000335626.4_Missense_Mutation_p.S1023R|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1023					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						CTGGGCCTCTGCTCCGCCCAG	0.537																																																	0													51	54	53					22																	42608243		2203	4300	6503	SO:0001583	missense	0			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.3069C>A	22.37:g.42608243G>T	ENSP00000352463:p.Ser1023Arg		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.S1023R	ENST00000359486.3	37	c.3069	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466351	0.63625	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.64438	-0.09;-0.1	5.92	2.29	0.28610	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.59156	-0.7507	10	0.30854	T	0.27	-17.5783	11.7287	0.51724	0.2703:0.0:0.7296:0.0	.	1023;1023	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	R	1023	ENSP00000352463:S1023R;ENSP00000335561:S1023R	ENSP00000335561:S1023R	S	-	3	2	TCF20	40938187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.474000	0.35398	0.851000	0.35264	0.655000	0.94253	AGC	TCF20	-	NULL	ENSG00000100207		0.537	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1		0	63	0	G	NM_181492		42608243	-1			no_errors	ENST00000359486	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	42608243	G	T	42608243	3	4	126	1	0	0	0	0	1	0	0	0	15737	1310	46	3	2851	3	TCF20	22	42608243	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	17889641	42608243	8696323	297	32715											
ATXN10	25814	genome.wustl.edu	37	chr22	46125395	46125395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttttgcggcatgctgaGttgattgcaagcacctttgt	6	16	12	7	1	0	2	0	2	0	0	0	2	0	2	1	1	4	6	1	1	1	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr22:46125395G>T	ENST00000252934.5	+	7	1084	c.819G>T	c.(817-819)gaG>gaT	p.E273D	ATXN10_ENST00000381061.4_Missense_Mutation_p.E209D	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	273					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GGCATGCTGAGTTGATTGCAA	0.478																																																	0													183	137	153					22																	46125395		2203	4300	6503	SO:0001583	missense	0			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"Ataxins"	10549	protein-coding gene	gene with protein product		611150	"spinocerebellar ataxia 10"	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.819G>T	22.37:g.46125395G>T	ENSP00000252934:p.Glu273Asp		A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	pfam_Ataxin-10_domain,superfamily_ARM-type_fold	p.E273D	ENST00000252934.5	37	c.819	CCDS14070.1	22	.	.	.	.	.	.	.	.	.	.	G	3.862	-0.029709	0.07589	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011;ENST00000435026	.	.	.	5.13	2.95	0.34219	Armadillo-type fold (1);	0.328345	0.34200	N	0.004164	T	0.18841	0.0452	L	0.34521	1.04	0.09310	N	1	B;B	0.16396	0.017;0.009	B;B	0.15052	0.012;0.007	T	0.10706	-1.0618	9	0.12103	T	0.63	-9.8025	1.4316	0.02335	0.1917:0.169:0.464:0.1753	.	209;273	A6NLC4;Q9UBB4	.;ATX10_HUMAN	D	209;273;273;25	.	ENSP00000252934:E273D	E	+	3	2	ATXN10	44504059	0.599000	0.26891	0.468000	0.27192	0.025000	0.11179	0.426000	0.21363	1.395000	0.46643	0.561000	0.74099	GAG	ATXN10	-	superfamily_ARM-type_fold	ENSG00000130638		0.478	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN10	HGNC	protein_coding	OTTHUMT00000318142.2		0	93	0	G	NM_013236		46125395	1			no_errors	ENST00000252934	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.109	T	T	46125395	G	T	46125395	3	4	126	1	0	0	0	0	1	0	0	0	1211	1020	36	3	845	3	ATXN10	22	46125395	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	3517152	46125395	5179171	298	32716											
TTC38	55020	genome.wustl.edu	37	chr22	46671246	46671246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatgcttatttttacctggGctatcaggaacagatgagag	11	13	11	6	0	1	3	1	2	0	2	1	5	1	4	1	2	3	2	1	2	4	5			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chr22:46671246G>T	ENST00000381031.3	+	5	543	c.467G>T	c.(466-468)gGc>gTc	p.G156V	TTC38_ENST00000445282.2_Intron	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	156						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						TTTTACCTGGGCTATCAGGAA	0.463																																																	0													115	112	113					22																	46671246		1867	4109	5976	SO:0001583	missense	0				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.467G>T	22.37:g.46671246G>T	ENSP00000370419:p.Gly156Val		Q8WV27|Q9NWP8	Missense_Mutation	SNP	NULL	p.G156V	ENST00000381031.3	37	c.467	CCDS43030.1	22	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483141	0.84747	.	.	ENSG00000075234	ENST00000381031;ENST00000421359	T;T	0.69040	1.11;-0.37	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84279	0.5437	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85218	0.1025	9	.	.	.	-18.6356	18.8363	0.92164	0.0:0.0:1.0:0.0	.	156	Q5R3I4	TTC38_HUMAN	V	156	ENSP00000370419:G156V;ENSP00000410095:G156V	.	G	+	2	0	TTC38	45049910	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.189000	0.94928	2.705000	0.92388	0.650000	0.86243	GGC	TTC38	-	NULL	ENSG00000075234		0.463	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TTC38	HGNC	protein_coding	OTTHUMT00000318469.1		0	79	0	G	NM_017931		46671246	1			no_errors	ENST00000381031	ensembl	human	novel	74_37	missense	5.80	65	4	SNP	1.000	T	T	46671246	G	T	46671246	3	4	126	1	0	0	0	0	1	0	0	0	16755	1203	42	3	485	3	TTC38	22	46671246	Missense_Mutation	SNP	G	TCGA-LN-A7HX-01A-11D-A33E-09	545851	46671246	4633320	299	32717											
MAP7D2	256714	genome.wustl.edu	37	chrX	20043083	20043083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatacctatcttgttcttcCttctccagtcgttcttgctc	4	18	5	14	1	4	0	0	0	4	0	8	0	5	0	3	0	2	4	3	0	2	8			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chrX:20043083C>A	ENST00000379651.3	-	9	1293	c.1275G>T	c.(1273-1275)aaG>aaT	p.K425N	MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000379643.5_Missense_Mutation_p.K466N|MAP7D2_ENST00000452324.3_Missense_Mutation_p.K373N|MAP7D2_ENST00000543767.1_Missense_Mutation_p.K310N|MAP7D2_ENST00000443379.3_Missense_Mutation_p.K380N	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	425					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CTTGTTCTTCCTTCTCCAGTC	0.493																																																	0													369	284	313					X																	20043083		2203	4300	6503	SO:0001583	missense	0			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1275G>T	X.37:g.20043083C>A	ENSP00000368972:p.Lys425Asn		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_MAP7	p.K466N	ENST00000379651.3	37	c.1398	CCDS14195.1	X	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133259	0.37630	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.44	0.699	0.18093	.	0.155258	0.42821	D	0.000647	T	0.44052	0.1275	M	0.79258	2.445	0.30544	N	0.76621	D;D;D;D;D	0.69078	0.997;0.993;0.996;0.997;0.996	D;P;P;D;P	0.65874	0.939;0.827;0.899;0.939;0.899	T	0.45352	-0.9267	10	0.49607	T	0.09	-17.5757	8.7272	0.34476	0.0:0.4781:0.0:0.5219	.	380;373;466;425;310	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	N	425;466;310;380;108;373	ENSP00000368972:K425N;ENSP00000368964:K466N;ENSP00000440691:K310N;ENSP00000388239:K380N;ENSP00000413301:K373N	ENSP00000368964:K466N	K	-	3	2	MAP7D2	19953004	0.991000	0.36638	0.787000	0.31911	0.745000	0.42441	0.247000	0.18179	-0.331000	0.08501	-0.312000	0.09012	AAG	MAP7D2	-	pfam_MAP7	ENSG00000184368		0.493	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	-	0	27	0	C	NM_152780		20043083	-1	tier1	-	no_errors	ENST00000379643	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	A	A	20043083	C	A	20043083	3	1	126	1	0	0	0	0	1	0	0	0	9306	680	24	3	951	3	MAP7D2	23	20043083	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09		20043083	135227477	300	32718											
DMD	1756	genome.wustl.edu	37	chrX	32382799	32382799	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgatgtggtccacattctggTcaaaagtttccatgtgtttc	8	16	9	8	0	2	1	1	1	1	0	5	1	4	1	2	2	0	2	2	2	2	3			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chrX:32382799T>C	ENST00000357033.4	-	36	5260	c.5054A>G	c.(5053-5055)gAc>gGc	p.D1685G	DMD_ENST00000378677.2_Missense_Mutation_p.D1681G	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	1685	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)				CACATTCTGGTCAAAAGTTTC	0.368																																																	0													205	158	173					X																	32382799		2202	4300	6502	SO:0001583	missense	0			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.5054A>G	X.37:g.32382799T>C	ENSP00000354923:p.Asp1685Gly		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.D1685G	ENST00000357033.4	37	c.5054	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968936	0.34754	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000420596;ENST00000448370	T;T	0.50813	0.73;0.73	5.38	4.2	0.49525	.	0.450410	0.15215	U	0.274281	T	0.63260	0.2496	M	0.69823	2.125	0.80722	D	1	B;D;B;B;B	0.61080	0.253;0.989;0.297;0.192;0.192	B;P;B;B;B	0.62560	0.088;0.904;0.142;0.092;0.092	T	0.61252	-0.7100	10	0.59425	D	0.04	.	10.3463	0.43907	0.0:0.0787:0.0:0.9213	.	1677;1685;1681;344;341	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	G	1677;344;341;1681;1685;1685;1562;101;41	ENSP00000367948:D1681G;ENSP00000354923:D1685G	ENSP00000354923:D1685G	D	-	2	0	DMD	32292720	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	3.944000	0.56629	0.769000	0.33313	0.437000	0.28790	GAC	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	26	0	T	NM_004006		32382799	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	C	C	32382799	T	C	32382799	3	2	126	1	0	0	0	0	1	0	0	0	4594	1667	58	4	6327	4	DMD	23	32382799	Missense_Mutation	SNP	T	TCGA-LN-A7HX-01A-11D-A33E-09	12339716	32382799	122887761	301	32719											
ESX1	80712	genome.wustl.edu	37	chrX	103499092	103499092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggctcctcctgctgttgCtccggctcgtggccgccgcc	0	9	14	18	5	0	0	0	0	0	0	4	0	3	0	6	4	2	5	6	4	0	1			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chrX:103499092C>A	ENST00000372588.4	-	2	332	c.249G>T	c.(247-249)gaG>gaT	p.E83D		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	83					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CCTGCTGTTGCTCCGGCTCGT	0.662																																					Pancreas(200;1705 2227 25194 28471 45274)												0													60	69	66					X																	103499092		2192	4233	6425	SO:0001583	missense	0			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.249G>T	X.37:g.103499092C>A	ENSP00000361669:p.Glu83Asp		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU	p.E83D	ENST00000372588.4	37	c.249	CCDS14516.1	X	.	.	.	.	.	.	.	.	.	.	c	10.52	1.372695	0.24857	.	.	ENSG00000123576	ENST00000372588	D	0.91011	-2.77	2.54	0.709	0.18150	.	.	.	.	.	T	0.75627	0.3875	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.14578	0.011	T	0.60752	-0.7201	9	0.14252	T	0.57	0.6192	6.0921	0.20001	0.0:0.7002:0.0:0.2998	.	83	Q8N693	ESX1_HUMAN	D	83	ENSP00000361669:E83D	ENSP00000361669:E83D	E	-	3	2	ESX1	103385748	0.009000	0.17119	0.000000	0.03702	0.006000	0.05464	0.140000	0.16056	0.078000	0.16900	-0.467000	0.05162	GAG	ESX1	-	NULL	ENSG00000123576		0.662	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	HGNC	protein_coding	OTTHUMT00000057763.2		0	14	0	C	NM_153448		103499092	-1			no_errors	ENST00000372588	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.000	A	A	103499092	C	A	103499092	3	1	126	1	0	0	0	0	1	0	0	0	5279	796	28	3	983	3	ESX1	23	103499092	Missense_Mutation	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	71116293	103499092	51771468	302	32720											
LRCH2	57631	genome.wustl.edu	37	chrX	114398259	114398259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcttctgttcttgctgCaataactgagcagctatttt	7	18	7	9	0	3	1	0	1	3	0	3	1	3	1	0	0	5	6	0	0	3	8			TCGA-LN-A7HX-01A-11D-A33E-09	TCGA-LN-A7HX-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6873970b-b435-40cc-95a1-ed5d858dbef3	24122e83-d0d6-4e3c-9aaa-7d3edeae0b8e	g.chrX:114398259C>T	ENST00000317135.8	-	11	1473	c.1443G>A	c.(1441-1443)ttG>ttA	p.L481L	LRCH2_ENST00000538422.1_Silent_p.L481L	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	481										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						GTTCTTGCTGCAATAACTGAG	0.323																																																	0													141	110	120					X																	114398259		1862	4090	5952	SO:0001819	synonymous_variant	0			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.1443G>A	X.37:g.114398259C>T			F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.L481	ENST00000317135.8	37	c.1443	CCDS48155.1	X																																																																																			LRCH2	-	superfamily_NA-bd_OB-fold	ENSG00000130224		0.323	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	-	0	67	0	C	NM_020871		114398259	-1	tier1	-	no_errors	ENST00000317135	ensembl	human	known	74_37	silent	31.58	38	18	SNP	1.000	T	T	114398259	C	T	114398259	2	4	126	1	0	0	0	0	0	0	0	1	8968	709	25	3		3	LRCH2	23	114398259	Silent	SNP	C	TCGA-LN-A7HX-01A-11D-A33E-09	10899167	114398259	40872301	303	32721											
NOC2L	26155	genome.wustl.edu	37	chr1	880079	880079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagatgggctgcctcagtCgtcctctgagagctgcagat	7	9	12	13	1	2	3	1	1	1	3	4	4	3	3	3	1	3	3	3	1	0	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:880079C>T	ENST00000327044.6	-	19	2294	c.2245G>A	c.(2245-2247)Gac>Aac	p.D749N		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	749	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)		CTGCCTCAGTCGTCCTCTGAG	0.697																																																	0													10	13	12					1																	880079		2147	4269	6416	SO:0001583	missense	0			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.2245G>A	1.37:g.880079C>T	ENSP00000317992:p.Asp749Asn		Q5SVA3|Q9BTN6	Missense_Mutation	SNP	pfam_Noc2,superfamily_ARM-type_fold	p.D749N	ENST00000327044.6	37	c.2245	CCDS3.1	1	.	.	.	.	.	.	.	.	.	.	c	13.77	2.336056	0.41398	.	.	ENSG00000188976	ENST00000327044	T	0.30448	1.53	4.88	3.97	0.46021	.	0.111656	0.64402	N	0.000016	T	0.32315	0.0825	N	0.19112	0.55	0.40195	D	0.977444	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.56088	0.791;0.791;0.791	T	0.16630	-1.0396	10	0.54805	T	0.06	.	12.598	0.56481	0.0:0.9192:0.0:0.0808	.	749;749;521	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	N	749	ENSP00000317992:D749N	ENSP00000317992:D749N	D	-	1	0	NOC2L	869942	0.997000	0.39634	0.569000	0.28460	0.006000	0.05464	3.710000	0.54860	1.297000	0.44761	-0.282000	0.10007	GAC	NOC2L	-	NULL	ENSG00000188976		0.697	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC2L	HGNC	protein_coding	OTTHUMT00000097869.1	-	0	30	0	C	NM_015658		880079	-1	tier1	-	no_errors	ENST00000327044	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.996	T	T	880079	C	T	880079	3	4	127	1	0	0	0	0	1	0	0	0	10552	884	31	1	8	1	NOC2L	1	880079	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09		880079	248370542	1	32722											
CCDC27	148870	genome.wustl.edu	37	chr1	3680269	3680269	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctctgcctctgtgcccaGgagtgattgcgtctttacaa	6	12	10	13	2	3	1	0	1	3	0	3	2	3	2	3	1	4	0	3	1	2	3	rs139984517		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:3680269G>T	ENST00000294600.2	+	8	1405		c.e8-1			NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27									p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TCTGTGCCCAGGAGTGATTGC	0.592																																																	1	Unknown(1)	skin(1)											112	114	113					1																	3680269		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1322-1G>T	1.37:g.3680269G>T			Q5TBV3|Q96M50	Splice_Site	SNP	-	e8-1	ENST00000294600.2	37	c.1322-1	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928880	0.34002	.	.	ENSG00000162592	ENST00000294600	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0592	0.58997	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC27	3670129	1.000000	0.71417	0.805000	0.32314	0.096000	0.18686	4.514000	0.60482	2.356000	0.79943	0.462000	0.41574	.	CCDC27	-	-	ENSG00000162592		0.592	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1		0	55	0	G	NM_152492	Intron	3680269	1			no_errors	ENST00000294600	ensembl	human	known	74_37	splice_site	7.41	25	2	SNP	0.958	T	T	3680269	G	T	3680269	5	4	127	1	0	0	0	0	0	0	1	0	2808	1014	35	3	1351	3	CCDC27	1	3680269	Splice_Site	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	2800190	3680269	245570352	2	32723											
PRAMEF1	65121	genome.wustl.edu	37	chr1	12854479	12854479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaggagatgaagaatcttCgcaaactcgttttctccagg	12	11	10	8	2	2	4	0	2	2	2	5	5	2	4	1	2	1	2	1	2	4	3	rs1063775	byFrequency	TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:12854479C>T	ENST00000332296.7	+	3	806	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	235					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)		GAAGAATCTTCGCAAACTCGT	0.438													c|||	35	0.00698882	0	0	5008	,	,		29731	0.001		0	False		,,,				2504	0.0348																0													158	163	161					1																	12854479		2203	4300	6503	SO:0001583	missense	0			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.703C>T	1.37:g.12854479C>T	ENSP00000332134:p.Arg235Cys		Q9UQP2	Missense_Mutation	SNP	NULL	p.R235C	ENST00000332296.7	37	c.703	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	7.979	0.750758	0.15778	.	.	ENSG00000116721	ENST00000332296	T	0.21734	1.99	1.61	1.61	0.23674	.	2.269980	0.01911	N	0.039880	T	0.23289	0.0563	L	0.54965	1.715	0.09310	N	0.999992	B	0.15141	0.012	B	0.04013	0.001	T	0.24404	-1.0161	10	0.48119	T	0.1	.	6.6557	0.22986	0.0:1.0:0.0:0.0	rs1063775;rs3204807	235	O95521	PRAM1_HUMAN	C	235	ENSP00000332134:R235C	ENSP00000332134:R235C	R	+	1	0	PRAMEF1	12777066	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.124000	0.10595	1.196000	0.43129	0.436000	0.28706	CGC	PRAMEF1	-	NULL	ENSG00000116721		0.438	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	-	0	175	0	C	NM_023013		12854479	1	tier1	rs1063775	no_errors	ENST00000332296	ensembl	human	known	74_37	missense	26.97	110	41	SNP	0.002	T	T	12854479	C	T	12854479	3	4	127	1	0	0	0	0	1	0	0	0	12467	884	31	1	709	1	PRAMEF1	1	12854479	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	9174210	12854479	236396142	3	32724											
PLEKHM2	23207	genome.wustl.edu	37	chr1	16059221	16059221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggtggaaaaccatctatCaggtacccagctgcccagga	11	7	11	12	0	2	0	1	0	1	0	2	2	2	2	3	4	4	2	3	4	4	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:16059221C>G	ENST00000375799.3	+	19	3147	c.2920C>G	c.(2920-2922)Cag>Gag	p.Q974E	PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.Q954E	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	974					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)		AACCATCTATCAGGTACCCAG	0.612																																																	0													47	52	50					1																	16059221		1990	4178	6168	SO:0001583	missense	0			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.2920C>G	1.37:g.16059221C>G	ENSP00000364956:p.Gln974Glu		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.Q974E	ENST00000375799.3	37	c.2920	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073039	0.76415	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.53423	0.64;0.62	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	D	0.72625	0.978	T	0.57694	-0.7767	10	0.44086	T	0.13	-19.8694	17.1271	0.86717	0.0:1.0:0.0:0.0	.	974	Q8IWE5	PKHM2_HUMAN	E	974;954	ENSP00000364956:Q974E;ENSP00000364950:Q954E	ENSP00000364950:Q954E	Q	+	1	0	PLEKHM2	15931808	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	7.042000	0.76565	2.469000	0.83416	0.655000	0.94253	CAG	PLEKHM2	-	NULL	ENSG00000116786		0.612	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	-	0	57	0	C	NM_015164		16059221	1	tier1	-	no_errors	ENST00000375799	ensembl	human	known	74_37	missense	28.00	36	14	SNP	1.000	G	G	16059221	C	G	16059221	3	3	127	1	0	0	0	0	1	0	0	0	12120	827	29	5	2994	5	PLEKHM2	1	16059221	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	3204742	16059221	233191400	4	32725											
EPHA2	1969	genome.wustl.edu	37	chr1	16456798	16456798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgctgacgatgtcagcGaacttggggcggcgggcacg	8	6	18	9	5	1	1	1	1	0	0	1	4	1	2	0	5	3	2	0	5	1	1	rs572281924		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:16456798G>T	ENST00000358432.5	-	15	2746	c.2592C>A	c.(2590-2592)ttC>ttA	p.F864L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	864	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)	CGATGTCAGCGAACTTGGGGC	0.622																																																	0													75	71	73					1																	16456798		2203	4300	6503	SO:0001583	missense	0			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.2592C>A	1.37:g.16456798G>T	ENSP00000351209:p.Phe864Leu		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.F864L	ENST00000358432.5	37	c.2592	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874373	0.72180	.	.	ENSG00000142627	ENST00000358432	D	0.87103	-2.21	5.63	-1.77	0.07982	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	0.000011	D	0.93164	0.7823	M	0.89904	3.07	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	D	0.92429	0.5952	10	0.87932	D	0	.	12.7002	0.57026	0.4497:0.0:0.5503:0.0	.	864	P29317	EPHA2_HUMAN	L	864	ENSP00000351209:F864L	ENSP00000351209:F864L	F	-	3	2	EPHA2	16329385	0.003000	0.15002	0.583000	0.28640	0.918000	0.54935	0.083000	0.14871	-0.333000	0.08476	-0.797000	0.03246	TTC	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000142627		0.622	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	-	0	87	0	G	NM_004431		16456798	-1	tier1	-	no_errors	ENST00000358432	ensembl	human	known	74_37	missense	12.73	48	7	SNP	0.637	T	T	16456798	G	T	16456798	3	4	127	1	0	0	0	0	1	0	0	0	5183	1049	37	2	350	2	EPHA2	1	16456798	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	397577	16456798	232793823	5	32726											
FAM43B	163933	genome.wustl.edu	37	chr1	20879570	20879570	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacacgtcgctgctctccaGcttcctgcgctcctgcccgg	3	10	9	19	4	1	0	0	0	1	0	5	0	3	0	4	1	5	4	4	1	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:20879570G>C	ENST00000332947.4	+	1	639	c.104G>C	c.(103-105)aGc>aCc	p.S35T		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	35										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		CTGCTCTCCAGCTTCCTGCGC	0.657																																																	0													39	40	40					1																	20879570		2203	4300	6503	SO:0001583	missense	0			AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.104G>C	1.37:g.20879570G>C	ENSP00000331397:p.Ser35Thr		A5PKT8|A5PL01	Missense_Mutation	SNP	smart_PTB/PI_dom	p.S35T	ENST00000332947.4	37	c.104	CCDS209.1	1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169596	0.38315	.	.	ENSG00000183114	ENST00000332947	.	.	.	4.17	3.22	0.36961	.	0.233857	0.34223	U	0.004147	T	0.25082	0.0609	N	0.16656	0.425	0.29507	N	0.854521	B	0.10296	0.003	B	0.12156	0.007	T	0.12372	-1.0550	9	0.38643	T	0.18	-7.6016	9.493	0.38971	0.0:0.4255:0.5745:0.0	.	35	Q6ZT52	FA43B_HUMAN	T	35	.	ENSP00000331397:S35T	S	+	2	0	FAM43B	20752157	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.821000	0.62679	1.875000	0.54330	0.455000	0.32223	AGC	FAM43B	-	NULL	ENSG00000183114		0.657	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM43B	HGNC	protein_coding	OTTHUMT00000127759.1	-	0	44	0	G	NM_207334		20879570	1	tier1	-	no_errors	ENST00000332947	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	C	C	20879570	G	C	20879570	3	2	127	1	0	0	0	0	1	0	0	0	5585	971	34	5	106	5	FAM43B	1	20879570	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	4422772	20879570	228371051	6	32727											
HMGN2	3151	genome.wustl.edu	37	chr1	26800609	26800609	+	Frame_Shift_Del	DEL	A	A	-																															caaagccagagcccaagcctAaaaaggcccctgcaaaggta																										TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:26800609delA	ENST00000361427.5	+	4	218	c.124delA	c.(124-126)aaafs	p.K43fs	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	43						chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-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)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-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;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GCCCAAGCCTAAAAAGGCCCC	0.433																																																	0													67	71	70					1																	26800609		2203	4300	6503	SO:0001589	frameshift_variant	0			BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"High-mobility group / Canonical"	4986	protein-coding gene	gene with protein product		163910	"high-mobility group (nonhistone chromosomal) protein 17", "high-mobility group nucleosomal binding domain 2"	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.124delA	1.37:g.26800609delA	ENSP00000355228:p.Lys43fs		Q0VGD5|Q6FGI5|Q96C64	Frame_Shift_Del	DEL	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.K43fs	ENST00000361427.5	37	c.124	CCDS283.1	1																																																																																			HMGN2	-	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	ENSG00000198830		0.433	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN2	HGNC	protein_coding	OTTHUMT00000009901.1		0	45	0	A	NM_005517		26800609	1	tier1		no_errors	ENST00000361427	ensembl	human	known	74_37	frame_shift_del	8.16	45	4	DEL	1.000	-	-	26800609	A	-	26800609	7	5	127	1	0	1	0	1	0	0	0	0	7262	363	13	0	138	0	HMGN2	1	26800609	Frame_Shift_Del	DEL	A	TCGA-LN-A7HY-01A-12D-A351-09	5921039	26800609	222450012	7	32728											
SERINC2	347735	genome.wustl.edu	37	chr1	31901872	31901872	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggcctcggtcatcaccctCtacaccatgtttgtcacctg	7	11	7	16	1	4	0	3	0	1	0	5	0	4	0	4	2	1	1	4	2	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:31901872C>G	ENST00000373709.3	+	7	978	c.828C>G	c.(826-828)ctC>ctG	p.L276L	SERINC2_ENST00000536859.1_Silent_p.L280L|SERINC2_ENST00000536384.1_Silent_p.L280L|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373710.1_Silent_p.L285L	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	276					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)		TCATCACCCTCTACACCATGT	0.617																																																	0													152	138	143					1																	31901872		2203	4300	6503	SO:0001819	synonymous_variant	0			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.828C>G	1.37:g.31901872C>G			A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Silent	SNP	pfam_TMS_TDE	p.L285	ENST00000373709.3	37	c.855	CCDS30662.1	1																																																																																			SERINC2	-	pfam_TMS_TDE	ENSG00000168528		0.617	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC2	HGNC	protein_coding	OTTHUMT00000010680.1	-	0	72	0	C	NM_018565		31901872	1	tier1	-	no_errors	ENST00000373710	ensembl	human	known	74_37	silent	27.27	48	18	SNP	0.550	G	G	31901872	C	G	31901872	2	3	127	1	0	0	0	0	0	0	0	1	14125	900	32	5		5	SERINC2	1	31901872	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	5101263	31901872	217348749	8	32729											
COL9A2	1298	genome.wustl.edu	37	chr1	40782797	40782797	+	Missense_Mutation	SNP	T	T	A	0	1	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	aggggctgcgaaacttacaaTctgcgccagagcgagcacta	12	6	12	11	3	1	1	0	0	1	1	1	3	1	1	1	2	6	2	1	2	4	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:40782797T>A	ENST00000372748.3	-	1	169	c.73A>T	c.(73-75)Att>Ttt	p.I25F		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	25					axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AAACTTACAATCTGCGCCAGA	0.692																																																	0													18	20	19					1																	40782797		2180	4278	6458	SO:0001583	missense	0			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.73A>T	1.37:g.40782797T>A	ENSP00000361834:p.Ile25Phe		B2RMP9	Missense_Mutation	SNP	pfam_Collagen	p.I25F	ENST00000372748.3	37	c.73	CCDS450.1	1	.	.	.	.	.	.	.	.	.	.	t	13.14	2.149266	0.37923	.	.	ENSG00000049089	ENST00000372748;ENST00000372736	D;D	0.90563	-2.69;-2.69	4.33	4.33	0.51752	.	0.146269	0.45867	D	0.000337	D	0.86439	0.5933	L	0.49350	1.555	0.35964	D	0.83482	B	0.31413	0.322	B	0.31191	0.125	D	0.87625	0.2512	10	0.44086	T	0.13	.	10.1526	0.42803	0.0:0.0:0.0:1.0	.	25	Q14055	CO9A2_HUMAN	F	25	ENSP00000361834:I25F;ENSP00000361821:I25F	ENSP00000361821:I25F	I	-	1	0	COL9A2	40555384	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	1.064000	0.30579	1.729000	0.51567	0.397000	0.26171	ATT	COL9A2	-	NULL	ENSG00000049089		0.692	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	HGNC	protein_coding	OTTHUMT00000015764.3	-	0	71	0	T	NM_001852		40782797	-1	tier1	-	no_errors	ENST00000372748	ensembl	human	known	74_37	missense	68.32	51	110	SNP	1.000	A	A	40782797	T	A	40782797	3	1	127	1	0	0	0	0	1	0	0	0	3715	1435	50	5	2124	5	COL9A2	1	40782797	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	8880925	40782797	208467824	9	32730											
EDN2	1907	genome.wustl.edu	37	chr1	41945149	41945149	+	Frame_Shift_Del	DEL	G	G	-																															tcctgttgtcgcttggcaaaGaggctcttgactgtggaaat																										TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:41945149delG	ENST00000372587.4	-	5	537	c.468delC	c.(466-468)ctcfs	p.L156fs	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	156					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTTGGCAAAGAGGCTCTTGA	0.542																																																	0													128	111	117					1																	41945149		2203	4300	6503	SO:0001589	frameshift_variant	0			M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"Endogenous ligands"	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.468delC	1.37:g.41945149delG	ENSP00000361668:p.Leu156fs		Q5T1R3	Frame_Shift_Del	DEL	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.F157fs	ENST00000372587.4	37	c.468	CCDS462.1	1																																																																																			EDN2	-	NULL	ENSG00000127129		0.542	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDN2	HGNC	protein_coding	OTTHUMT00000016983.1		0	81	0	G	NM_001956		41945149	-1			no_errors	ENST00000372587	ensembl	human	known	74_37	frame_shift_del	8.51	129	12	DEL	0.001	0	-	41945149	G	-	41945149	7	5	127	1	0	1	0	1	0	0	0	0	4931	929	33	0	72	0	EDN2	1	41945149	Frame_Shift_Del	DEL	G	TCGA-LN-A7HY-01A-12D-A351-09	1162352	41945149	207305472	10	32731											
NRD1	4898	genome.wustl.edu	37	chr1	52303157	52303157	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgttttaataggtgcctaAcctgctttcagctccaacta	10	14	7	10	0	1	0	1	0	0	0	2	1	2	0	3	1	5	3	3	1	5	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:52303157A>T	ENST00000354831.7	-	3	954		c.e3+1		NRD1_ENST00000485608.1_Intron|NRD1_ENST00000352171.7_Intron|NRD1_ENST00000539524.1_Splice_Site|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TAGGTGCCTAACCTGCTTTCA	0.388																																																	0													143	137	139					1																	52303157		2203	4300	6503	SO:0001630	splice_region_variant	0			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.764+1T>A	1.37:g.52303157A>T			A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	SNP	-	e3+2	ENST00000354831.7	37	c.764+2	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.116647	0.56505	.	.	ENSG00000078618	ENST00000354831;ENST00000539524	.	.	.	5.09	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.083	0.19952	0.884:0.0:0.116:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRD1	52075745	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.512000	0.45485	2.127000	0.65507	0.533000	0.62120	.	NRD1	-	-	ENSG00000078618		0.388	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	-	0	58	0	A	NM_002525	Intron	52303157	-1	tier1	-	no_errors	ENST00000354831	ensembl	human	known	74_37	splice_site	29.33	53	22	SNP	1.000	T	T	52303157	A	T	52303157	5	4	127	1	0	0	0	0	0	0	1	0	10684	57	2	5	3017	5	NRD1	1	52303157	Splice_Site	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	10358008	52303157	196947464	11	32732											
PODN	127435	genome.wustl.edu	37	chr1	53542922	53542922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggacaacatgttcaaCggctccagcaacgtcgaggt	10	7	11	13	4	1	0	1	0	0	0	3	2	2	1	2	3	5	3	2	3	3	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:53542922C>G	ENST00000312553.5	+	6	793	c.786C>G	c.(784-786)aaC>aaG	p.N262K	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Missense_Mutation_p.N243K|PODN_ENST00000395871.2_Intron	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	214					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACATGTTCAACGGCTCCAGCA	0.632																																																	0													116	118	117					1																	53542922		2203	4300	6503	SO:0001583	missense	0			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.786C>G	1.37:g.53542922C>G	ENSP00000308315:p.Asn262Lys		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.N262K	ENST00000312553.5	37	c.786	CCDS573.1	1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298393	0.23650	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.44881	3.68;0.91	5.11	-3.6	0.04570	.	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	N	0.17564	0.495	0.80722	D	1	D;P	0.89917	1.0;0.567	D;B	0.87578	0.998;0.276	T	0.22487	-1.0215	10	0.23302	T	0.38	.	13.452	0.61176	0.0:0.3971:0.0:0.6029	.	243;262	Q7Z5L7-2;Q7Z5L7-3	.;.	K	243;262	ENSP00000360555:N243K;ENSP00000308315:N262K	ENSP00000308315:N262K	N	+	3	2	PODN	53315510	0.010000	0.17322	0.977000	0.42913	0.999000	0.98932	-1.076000	0.03420	-0.556000	0.06134	0.655000	0.94253	AAC	PODN	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000174348		0.632	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PODN	HGNC	protein_coding	OTTHUMT00000024735.1	-	0	39	0	C	NM_153703		53542922	1	tier1	-	no_errors	ENST00000312553	ensembl	human	known	74_37	missense	44.44	30	24	SNP	0.850	G	G	53542922	C	G	53542922	3	3	127	1	0	0	0	0	1	0	0	0	12217	535	19	5	808	5	PODN	1	53542922	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	1239765	53542922	195707699	12	32733											
COL24A1	255631	genome.wustl.edu	37	chr1	86512550	86512550	+	Silent	SNP	G	G	T	0	0	1	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	tttccacggatcccaggaatGccctagaatatagaaaagaa	16	8	8	9	1	0	3	0	0	0	3	2	5	2	5	3	2	1	0	3	2	8	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:86512550G>T	ENST00000370571.2	-	12	2274	c.1908C>A	c.(1906-1908)ggC>ggA	p.G636G	COL24A1_ENST00000436319.1_Silent_p.G636G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	636					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		tcccaggaatgccctagaata	0.318																																																	0													102	101	102					1																	86512550		1803	4053	5856	SO:0001819	synonymous_variant	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1908C>A	1.37:g.86512550G>T			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G636	ENST00000370571.2	37	c.1908	CCDS41353.1	1																																																																																			COL24A1	-	pfam_Collagen	ENSG00000171502		0.318	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4		0	75	0	G	NM_152890		86512550	-1			no_errors	ENST00000370571	ensembl	human	known	74_37	silent	5.26	90	5	SNP	0.692	T	T	86512550	G	T	86512550	2	4	127	1	0	0	0	0	0	0	0	1	3690	1306	46	3		3	COL24A1	1	86512550	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	32969628	86512550	162738071	13	32734											
AMY2B	280	genome.wustl.edu	37	chr1	104114305	104114305	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacaacaaggacggacatcTattgttcatctgtttgaatg	13	12	8	8	1	3	1	1	1	2	0	3	3	3	3	0	2	1	2	0	2	4	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:104114305T>C	ENST00000361355.4	+	3	697	c.81T>C	c.(79-81)tcT>tcC	p.S27S	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	27					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GACGGACATCTATTGTTCATC	0.433																																																	0													105	97	99					1																	104114305		2202	4280	6482	SO:0001819	synonymous_variant	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.81T>C	1.37:g.104114305T>C			B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.S27	ENST00000361355.4	37	c.81	CCDS782.1	1																																																																																			AMY2B	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000240038		0.433	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	-	0	164	0	T	NM_020978		104114305	1	tier1	-	no_errors	ENST00000361355	ensembl	human	known	74_37	silent	50.66	75	77	SNP	1.000	C	C	104114305	T	C	104114305	2	2	127	1	0	0	0	0	0	0	0	1	595	1509	53	4		4	AMY2B	1	104114305	Silent	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	17601755	104114305	145136316	14	32735											
SLC16A1	6566	genome.wustl.edu	37	chr1	113460201	113460201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaccaaaggtgcaaagagtCcaaaaaacatgatcacattt	19	7	6	9	0	1	2	1	1	0	1	2	2	2	2	2	1	2	1	2	1	5	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:113460201C>T	ENST00000538576.1	-	4	1658	c.827G>A	c.(826-828)gGa>gAa	p.G276E	SLC16A1_ENST00000433570.4_Missense_Mutation_p.G276E|SLC16A1_ENST00000369626.3_Missense_Mutation_p.G276E	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	276					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TGCAAAGAGTCCAAAAAACAT	0.408																																																	0													79	81	81					1																	113460201		2203	4300	6503	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"Solute carriers"	10922	protein-coding gene	gene with protein product		600682	"solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.827G>A	1.37:g.113460201C>T	ENSP00000441065:p.Gly276Glu		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.G276E	ENST00000538576.1	37	c.827	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423646	0.83559	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.74	4.81	0.61882	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	H	0.96398	3.815	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.99;0.993	D	0.88097	0.2817	10	0.87932	D	0	.	16.6155	0.84915	0.0:0.8696:0.1304:0.0	.	276;276	Q49A45;P53985	.;MOT1_HUMAN	E	276	ENSP00000358640:G276E;ENSP00000441065:G276E;ENSP00000416167:G276E;ENSP00000445061:G276E;ENSP00000399104:G276E	ENSP00000358640:G276E	G	-	2	0	SLC16A1	113261724	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	7.767000	0.85331	1.528000	0.49103	0.563000	0.77884	GGA	SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.408	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	-	0	56	0	C	NM_003051		113460201	-1	tier1	-	no_errors	ENST00000369626	ensembl	human	known	74_37	missense	44.07	33	26	SNP	1.000	T	T	113460201	C	T	113460201	3	4	127	1	0	0	0	0	1	0	0	0	14447	855	30	3	683	3	SLC16A1	1	113460201	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	9345896	113460201	135790420	15	32736											
ARHGEF2	9181	genome.wustl.edu	37	chr1	155928115	155928115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaatgaatgtctcaccaggGtaggaaagatgtacttctgg	13	10	12	6	0	2	3	1	1	2	2	3	4	2	4	1	3	1	2	1	3	5	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:155928115G>T	ENST00000361247.4	-	12	1640	c.1541C>A	c.(1540-1542)aCc>aAc	p.T514N	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.T513N|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.T486N|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.T559N|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.T486N|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.T515N|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	514	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					TCTCACCAGGGTAGGAAAGAT	0.498																																					Melanoma(178;35 2768 6610 28839)												0													126	102	110					1																	155928115		2203	4300	6503	SO:0001583	missense	0			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.1541C>A	1.37:g.155928115G>T	ENSP00000354837:p.Thr514Asn		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.T515N	ENST00000361247.4	37	c.1544	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175874	0.38413	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	4.77	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.914888	0.09202	N	0.834507	T	0.63686	0.2532	M	0.63843	1.955	0.09310	N	1	B;B;B	0.18610	0.019;0.029;0.015	B;B;B	0.25759	0.063;0.055;0.06	T	0.59252	-0.7489	10	0.48119	T	0.1	-3.461	15.6642	0.77213	0.0:0.0:1.0:0.0	.	558;514;513	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	N	486;514;515;486;513	ENSP00000315325:T486N;ENSP00000354837:T514N;ENSP00000357298:T515N;ENSP00000357299:T486N;ENSP00000314787:T513N	ENSP00000314787:T513N	T	-	2	0	ARHGEF2	154194739	0.007000	0.16637	0.798000	0.32154	0.853000	0.48598	1.447000	0.35101	2.615000	0.88500	0.650000	0.86243	ACC	ARHGEF2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000116584		0.498	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	-	0	70	0	G	NM_004723		155928115	-1	tier1	-	no_errors	ENST00000368315	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.151	T	T	155928115	G	T	155928115	3	4	127	1	0	0	0	0	1	0	0	0	903	1261	44	3	1463	3	ARHGEF2	1	155928115	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	42467914	155928115	93322506	16	32737											
CD1B	910	genome.wustl.edu	37	chr1	158299306	158299306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgtcccctagctgagtgCcctgctgctcctgctcaccc	4	10	10	17	0	1	1	1	1	0	0	3	2	3	2	5	1	5	4	5	1	1	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:158299306C>T	ENST00000368168.3	-	4	847	c.740G>A	c.(739-741)gGc>gAc	p.G247D		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	247	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TAGCTGAGTGCCCTGCTGCTC	0.612																																																	0													136	121	126					1																	158299306		2203	4300	6503	SO:0001583	missense	0			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.740G>A	1.37:g.158299306C>T	ENSP00000357150:p.Gly247Asp		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.G247D	ENST00000368168.3	37	c.740	CCDS1176.1	1	.	.	.	.	.	.	.	.	.	.	C	4.399	0.073647	0.08485	.	.	ENSG00000158485	ENST00000368168	T	0.03212	4.01	4.13	2.61	0.31194	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.189133	0.26800	N	0.022422	T	0.01287	0.0042	L	0.35854	1.095	0.09310	N	1	B	0.31125	0.309	B	0.39503	0.301	T	0.49254	-0.8959	10	0.19590	T	0.45	-4.8212	6.3999	0.21632	0.0:0.7983:0.0:0.2017	.	247	P29016	CD1B_HUMAN	D	247	ENSP00000357150:G247D	ENSP00000357150:G247D	G	-	2	0	CD1B	156565930	0.000000	0.05858	0.013000	0.15412	0.026000	0.11368	0.077000	0.14738	0.638000	0.30545	0.561000	0.74099	GGC	CD1B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000158485		0.612	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	HGNC	protein_coding	OTTHUMT00000046350.2	-	0	93	0	C	NM_001764		158299306	-1	tier1	-	no_errors	ENST00000368168	ensembl	human	known	74_37	missense	26.55	83	30	SNP	0.029	T	T	158299306	C	T	158299306	3	4	127	1	0	0	0	0	1	0	0	0	2982	739	26	3	273	3	CD1B	1	158299306	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	2371191	158299306	90951315	17	32738											
SPTA1	6708	genome.wustl.edu	37	chr1	158622411	158622411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgcaatagacgacgtctgCgttcttctgcccgatccaag	8	11	10	12	4	3	1	0	0	3	1	4	3	4	1	2	0	3	3	2	0	3	4	rs551084590		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:158622411C>T	ENST00000368147.4	-	23	3401	c.3221G>A	c.(3220-3222)cGc>cAc	p.R1074H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1074					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1074H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACGACGTCTGCGTTCTTCTGC	0.438													C|||	1	0.000199681	8e-04	0	5008	,	,		18408	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)											104	96	98					1																	158622411		1884	4114	5998	SO:0001583	missense	0			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.3221G>A	1.37:g.158622411C>T	ENSP00000357129:p.Arg1074His		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R1074H	ENST00000368147.4	37	c.3221	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925236	0.73213	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.76060	-0.99;-0.99	5.3	5.3	0.74995	.	0.000000	0.32703	N	0.005753	D	0.82641	0.5081	M	0.66939	2.045	0.58432	D	0.999996	D	0.89917	1.0	D	0.71656	0.974	D	0.83848	0.0261	10	0.87932	D	0	.	17.7085	0.88315	0.0:1.0:0.0:0.0	.	1074	P02549	SPTA1_HUMAN	H	1074	ENSP00000357130:R1074H;ENSP00000357129:R1074H	ENSP00000357129:R1074H	R	-	2	0	SPTA1	156889035	1.000000	0.71417	0.997000	0.53966	0.069000	0.16628	4.986000	0.63851	2.769000	0.95229	0.655000	0.94253	CGC	SPTA1	-	smart_Spectrin/alpha-actinin	ENSG00000163554		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0	23	0	C	NM_003126		158622411	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	158622411	C	T	158622411	3	4	127	1	0	0	0	0	1	0	0	0	15163	768	27	1	4158	1	SPTA1	1	158622411	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	323105	158622411	90628210	18	32739											
B4GALT3	8703	genome.wustl.edu	37	chr1	161143503	161143503	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctgagactcctccgaagtacTgggggtacgggaggctaggg	8	7	17	9	2	0	1	0	1	0	1	2	4	2	2	2	5	2	3	2	5	4	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:161143503T>C	ENST00000319769.5	-	6	917	c.695A>G	c.(694-696)cAg>cGg	p.Q232R	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.Q232R|B4GALT3_ENST00000470882.1_5'UTR	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	232					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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TCCGAAGTACTGGGGGTACGG	0.552																																																	0													130	119	123					1																	161143503		2203	4300	6503	SO:0001583	missense	0			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"Beta 4-glycosyltransferases"	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.695A>G	1.37:g.161143503T>C	ENSP00000320965:p.Gln232Arg		D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.Q232R	ENST00000319769.5	37	c.695	CCDS1222.1	1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851641	0.51270	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	D;D	0.81499	-1.5;-1.5	5.44	5.44	0.79542	.	0.286608	0.39985	N	0.001213	T	0.57784	0.2077	N	0.25485	0.75	0.46849	D	0.999223	B	0.23185	0.081	B	0.30029	0.11	T	0.57027	-0.7881	10	0.19147	T	0.46	.	13.1234	0.59340	0.0:0.0:0.0:1.0	.	232	O60512	B4GT3_HUMAN	R	232;209;232;232	ENSP00000320965:Q232R;ENSP00000356977:Q232R	ENSP00000320965:Q232R	Q	-	2	0	B4GALT3	159410127	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.112000	0.50368	2.288000	0.76882	0.533000	0.62120	CAG	B4GALT3	-	pfam_Galactosyl_T_C,prints_Galactosyl_T	ENSG00000158850		0.552	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT3	HGNC	protein_coding	OTTHUMT00000083054.1	-	0	118	0	T	NM_003779		161143503	-1	tier1	-	no_errors	ENST00000319769	ensembl	human	known	74_37	missense	28.18	79	31	SNP	1.000	C	C	161143503	T	C	161143503	3	2	127	1	0	0	0	0	1	0	0	0	1273	1580	55	4	498	4	B4GALT3	1	161143503	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	2521092	161143503	88107118	19	32740											
LMX1A	4009	genome.wustl.edu	37	chr1	165322387	165322387	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggggctctttgcaggaGgcgcactgcacgcactgctc	6	8	13	14	2	1	0	0	0	1	0	3	1	2	1	1	4	3	6	1	4	0	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:165322387G>T	ENST00000342310.3	-	3	571	c.189C>A	c.(187-189)gcC>gcA	p.A63A	LMX1A_ENST00000367893.4_Silent_p.A63A|LMX1A_ENST00000294816.2_Silent_p.A63A	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	63	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|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(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTTTGCAGGAGGCGCACTGCA	0.602																																																	0													83	80	81					1																	165322387		2203	4300	6503	SO:0001819	synonymous_variant	0			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.189C>A	1.37:g.165322387G>T			B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.A63	ENST00000342310.3	37	c.189	CCDS1247.1	1																																																																																			LMX1A	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000162761		0.602	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMX1A	HGNC	protein_coding	OTTHUMT00000083668.2	-	0	67	0	G	NM_177398		165322387	-1	tier1	-	no_errors	ENST00000294816	ensembl	human	known	74_37	silent	7.14	65	5	SNP	1.000	T	T	165322387	G	T	165322387	2	4	127	1	0	0	0	0	0	0	0	1	8891	987	35	3		3	LMX1A	1	165322387	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	4178884	165322387	83928234	20	32741											
POGK	57645	genome.wustl.edu	37	chr1	166818285	166818285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggcctccgtctgcctcggGatatcacagagctgcccgag	6	9	12	14	3	2	1	1	0	1	1	4	3	3	2	4	2	3	1	4	2	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:166818285G>T	ENST00000367875.1	+	5	829	c.469G>T	c.(469-471)Gat>Tat	p.D157Y	POGK_ENST00000536514.1_Missense_Mutation_p.D72Y|POGK_ENST00000537173.1_Missense_Mutation_p.D39Y|POGK_ENST00000367876.4_Missense_Mutation_p.D157Y			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	157					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D157Y(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TCTGCCTCGGGATATCACAGA	0.557																																					GBM(76;192 1530 30153 48742)												1	Substitution - Missense(1)	lung(1)											104	99	101					1																	166818285		2203	4300	6503	SO:0001583	missense	0			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.469G>T	1.37:g.166818285G>T	ENSP00000356849:p.Asp157Tyr		Q5TIJ1|Q8TE07	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.D157Y	ENST00000367875.1	37	c.469	CCDS1254.1	1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650515	0.29336	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.33438	1.44;1.41;4.33;4.5;4.5	5.3	4.37	0.52481	.	0.000000	0.50627	D	0.000107	T	0.27454	0.0674	N	0.24115	0.695	0.34900	D	0.746398	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.993;0.993	T	0.24905	-1.0147	9	0.87932	D	0	-27.377	10.9821	0.47501	0.0:0.0:0.8139:0.1861	.	39;72;157	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	Y	39;72;157;157;157	ENSP00000442763:D39Y;ENSP00000441187:D72Y;ENSP00000404402:D157Y;ENSP00000356850:D157Y;ENSP00000356849:D157Y	ENSP00000356849:D157Y	D	+	1	0	POGK	165084909	0.478000	0.25917	0.122000	0.21767	0.961000	0.63080	2.532000	0.45659	1.425000	0.47237	0.655000	0.94253	GAT	POGK	-	NULL	ENSG00000143157		0.557	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	POGK	HGNC	protein_coding	OTTHUMT00000082888.1		0	62	0	G	NM_017542		166818285	1			no_errors	ENST00000367875	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.406	T	T	166818285	G	T	166818285	3	4	127	1	0	0	0	0	1	0	0	0	12224	1174	41	3	483	3	POGK	1	166818285	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	1495898	166818285	82432336	21	32742											
PAPPA2	60676	genome.wustl.edu	37	chr1	176734935	176734935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcaaaggggatttgccCttcaggccagcagtgggcag	8	9	14	10	0	2	0	2	0	0	0	2	1	2	1	2	4	2	2	2	4	1	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:176734935C>T	ENST00000367662.3	+	15	5449	c.4285C>T	c.(4285-4287)Ctt>Ttt	p.L1429F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1429	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGATTTGCCCTTCAGGCCAG	0.512																																																	0													128	124	125					1																	176734935		2031	4202	6233	SO:0001583	missense	0			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.4285C>T	1.37:g.176734935C>T	ENSP00000356634:p.Leu1429Phe		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.L1429F	ENST00000367662.3	37	c.4285	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850925	0.71719	.	.	ENSG00000116183	ENST00000367662	T	0.80738	-1.41	5.69	5.69	0.88448	Sushi/SCR/CCP (1);	0.247323	0.34986	N	0.003522	D	0.84781	0.5548	M	0.79258	2.445	0.80722	D	1	P	0.51449	0.945	P	0.47162	0.54	D	0.86832	0.2011	10	0.66056	D	0.02	-15.5259	17.592	0.87999	0.0:1.0:0.0:0.0	.	1429	Q9BXP8	PAPP2_HUMAN	F	1429	ENSP00000356634:L1429F	ENSP00000356634:L1429F	L	+	1	0	PAPPA2	175001558	0.994000	0.37717	0.997000	0.53966	0.578000	0.36192	3.376000	0.52417	2.691000	0.91804	0.655000	0.94253	CTT	PAPPA2	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP	ENSG00000116183		0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	63	0	C			176734935	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.989	T	T	176734935	C	T	176734935	3	4	127	1	0	0	0	0	1	0	0	0	11472	681	24	3	4392	3	PAPPA2	1	176734935	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	9916650	176734935	72515686	22	32743											
DHX9	1660	genome.wustl.edu	37	chr1	182850531	182850531	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgatcacgtagcccttttAtcagtattccaagcctggga	9	13	8	11	1	3	1	2	1	1	0	4	2	4	2	3	1	2	2	3	1	4	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:182850531A>G	ENST00000367549.3	+	23	2867	c.2757A>G	c.(2755-2757)ttA>ttG	p.L919L	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	919					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						TAGCCCTTTTATCAGTATTCC	0.418																																					Colon(69;210 1162 3697 13559 39565)												0													145	135	138					1																	182850531		1855	4103	5958	SO:0001819	synonymous_variant	0			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.2757A>G	1.37:g.182850531A>G			B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom	p.L919	ENST00000367549.3	37	c.2757	CCDS41444.1	1																																																																																			DHX9	-	pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom	ENSG00000135829		0.418	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	-	0	43	0	A	NM_030588		182850531	1	tier1	-	no_errors	ENST00000367549	ensembl	human	known	74_37	silent	30.00	42	18	SNP	0.968	G	G	182850531	A	G	182850531	2	3	127	1	0	0	0	0	0	0	0	1	4530	446	16	4		4	DHX9	1	182850531	Silent	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	6115596	182850531	66400090	23	32744											
TNNT2	7139	genome.wustl.edu	37	chr1	201336929	201336929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgcttcctcttcttcttCatcttctaaatgaaacacga	9	17	3	12	1	6	1	1	1	5	0	7	2	7	1	1	0	2	1	1	0	3	7			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:201336929C>T	ENST00000509001.1	-	6	425	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	TNNT2_ENST00000367320.2_Missense_Mutation_p.E56K|TNNT2_ENST00000367322.1_Missense_Mutation_p.E47K|TNNT2_ENST00000367317.4_Missense_Mutation_p.E47K|TNNT2_ENST00000367315.2_Missense_Mutation_p.E47K|TNNT2_ENST00000360372.4_Missense_Mutation_p.E42K|TNNT2_ENST00000421663.2_Missense_Mutation_p.E49K|TNNT2_ENST00000458432.2_Missense_Mutation_p.E59K|TNNT2_ENST00000236918.7_Missense_Mutation_p.E52K|TNNT2_ENST00000367318.5_Missense_Mutation_p.E47K	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	0					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCTTCTTCTTCATCTTCTAAA	0.507																																																	0													260	261	261					1																	201336929		2203	4300	6503	SO:0001583	missense	0			X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"troponin T2, cardiac", "cardiomyopathy, hypertrophic 2", "cardiomyopathy, dilated 1D (autosomal dominant)"	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.139G>A	1.37:g.201336929C>T	ENSP00000422031:p.Glu47Lys		A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	pfam_Troponin	p.E59K	ENST00000509001.1	37	c.175	CCDS30969.1	1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262745	0.23051	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165;ENST00000412633	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99660	-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32	3.57	3.57	0.40892	.	0.964771	0.08506	N	0.935735	D	0.97835	0.9289	N	0.19112	0.55	0.30764	N	0.743766	B;B;B;B	0.16396	0.017;0.01;0.01;0.017	B;B;B;B	0.18263	0.021;0.009;0.009;0.021	D	0.94334	0.7564	10	0.10377	T	0.69	-0.6819	15.1312	0.72527	0.0:1.0:0.0:0.0	.	56;57;47;57	P45379-3;P45379;Q9BUF6;P45379-10	.;TNNT2_HUMAN;.;.	K	47;47;59;49;52;47;47;42;43;56;47;42;57;52;46	ENSP00000356291:E47K;ENSP00000356287:E47K;ENSP00000387874:E59K;ENSP00000404134:E49K;ENSP00000236918:E52K;ENSP00000356286:E47K;ENSP00000356284:E47K;ENSP00000353535:E42K;ENSP00000356289:E56K;ENSP00000422031:E47K;ENSP00000414036:E42K;ENSP00000402238:E57K;ENSP00000395163:E52K;ENSP00000408731:E46K	ENSP00000236918:E52K	E	-	1	0	TNNT2	199603552	0.003000	0.15002	0.690000	0.30148	0.075000	0.17131	1.294000	0.33365	2.261000	0.74972	0.561000	0.74099	GAA	TNNT2	-	NULL	ENSG00000118194		0.507	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TNNT2	HGNC	protein_coding	OTTHUMT00000360358.1	-	0	72	0	C	NM_000364		201336929	-1	tier1	-	no_errors	ENST00000458432	ensembl	human	known	74_37	missense	13.39	97	15	SNP	0.808	T	T	201336929	C	T	201336929	3	4	127	1	0	0	0	0	1	0	0	0	16378	835	29	3	774	3	TNNT2	1	201336929	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	18486398	201336929	47913692	24	32745											
FCAMR	83953	genome.wustl.edu	37	chr1	207139152	207139152	+	Missense_Mutation	SNP	T	T	C	0	1	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	tcctggaggggagagagcccTcccacagccatctcggatgg	8	6	14	13	1	1	1	0	0	1	1	4	5	3	4	4	5	2	0	4	5	0	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:207139152T>C	ENST00000324852.4	-	4	695	c.221A>G	c.(220-222)gAg>gGg	p.E74G	FCAMR_ENST00000450945.2_Missense_Mutation_p.E74G|FCAMR_ENST00000400962.3_Missense_Mutation_p.E74G	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	29	Ig-like V-type.				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						GAGAGAGCCCTCCCACAGCCA	0.602																																					Ovarian(199;1883 2142 16966 44409 45154)												0													43	45	44					1																	207139152		1568	3582	5150	SO:0001583	missense	0			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.221A>G	1.37:g.207139152T>C	ENSP00000316491:p.Glu74Gly		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.E74G	ENST00000324852.4	37	c.221	CCDS53468.1	1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.483694	0.26598	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945;ENST00000367087	T;T;T	0.08720	3.06;3.35;3.06	3.04	-6.09	0.02145	.	2.861610	0.01895	N	0.038849	T	0.06872	0.0175	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.18610	0.008;0.0;0.029;0.004	B;B;B;B	0.16289	0.007;0.0;0.015;0.005	T	0.26573	-1.0099	10	0.33940	T	0.23	6.0778	6.2398	0.20785	0.1936:0.0:0.1675:0.6389	.	29;49;29;29	Q8WWV6-4;D2KTA8;Q8WWV6-2;Q8WWV6	.;.;.;FCAMR_HUMAN	G	74;74;74;50	ENSP00000383746:E74G;ENSP00000316491:E74G;ENSP00000392707:E74G	ENSP00000316491:E74G	E	-	2	0	FCAMR	205205775	0.000000	0.05858	0.000000	0.03702	0.381000	0.30169	-1.726000	0.01861	-1.834000	0.01193	0.528000	0.53228	GAG	FCAMR	-	NULL	ENSG00000162897		0.602	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FCAMR	HGNC	protein_coding	OTTHUMT00000088969.2	-	0	108	0	T	NM_032029		207139152	-1	tier1	-	no_errors	ENST00000400962	ensembl	human	known	74_37	missense	67.35	32	66	SNP	0.000	C	C	207139152	T	C	207139152	3	2	127	1	0	0	0	0	1	0	0	0	5794	1551	54	4	1532	4	FCAMR	1	207139152	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	5802223	207139152	42111469	25	32746											
PLXNA2	5362	genome.wustl.edu	37	chr1	208315682	208315682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttagcacttacctgtctctCagacatgacgtacaggtagc	10	11	9	11	1	2	2	1	1	1	1	3	2	2	2	1	1	4	4	1	1	4	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:208315682C>T	ENST00000367033.3	-	4	2255	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	500	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)		ACCTGTCTCTCAGACATGACG	0.498																																																	0													87	74	78					1																	208315682		2203	4300	6503	SO:0001583	missense	0			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.1498G>A	1.37:g.208315682C>T	ENSP00000356000:p.Glu500Lys		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.E500K	ENST00000367033.3	37	c.1498	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515773	0.64634	.	.	ENSG00000076356	ENST00000367033	T	0.04706	3.57	4.89	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.370895	0.29660	N	0.011540	T	0.09158	0.0226	M	0.78049	2.395	0.80722	D	1	P	0.38642	0.641	B	0.31812	0.136	T	0.10823	-1.0613	10	0.42905	T	0.14	.	17.6837	0.88251	0.0:1.0:0.0:0.0	.	500	O75051	PLXA2_HUMAN	K	500	ENSP00000356000:E500K	ENSP00000356000:E500K	E	-	1	0	PLXNA2	206382305	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.022000	0.76431	2.254000	0.74563	0.655000	0.94253	GAG	PLXNA2	-	superfamily_Semap_dom,pfscan_Semap_dom	ENSG00000076356		0.498	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0	86	0	C	NM_025179		208315682	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	46.03	34	29	SNP	1.000	T	T	208315682	C	T	208315682	3	4	127	1	0	0	0	0	1	0	0	0	12159	835	29	3	4302	3	PLXNA2	1	208315682	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	1176530	208315682	40934939	26	32747											
SPATA17	128153	genome.wustl.edu	37	chr1	217842377	217842377	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttcttgattcacaggtAgcatattatactatgatgat	11	19	6	5	0	2	3	1	3	1	0	2	3	2	3	0	1	2	2	0	1	5	10			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:217842377A>T	ENST00000366933.4	+	4	298	c.243A>T	c.(241-243)gtA>gtT	p.V81V		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	81	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATTCACAGGTAGCATATTATA	0.313																																																	0													135	138	137					1																	217842377		2203	4297	6500	SO:0001819	synonymous_variant	0			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.243A>T	1.37:g.217842377A>T			A5D6N2	Silent	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.V81	ENST00000366933.4	37	c.243	CCDS1519.1	1																																																																																			SPATA17	-	superfamily_P-loop_NTPase	ENSG00000162814		0.313	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	HGNC	protein_coding	OTTHUMT00000092433.2	-	0	40	0	A	NM_138796		217842377	1	tier1	-	no_errors	ENST00000366933	ensembl	human	known	74_37	silent	13.89	62	10	SNP	1.000	T	T	217842377	A	T	217842377	2	4	127	1	0	0	0	0	0	0	0	1	15049	407	15	5		5	SPATA17	1	217842377	Silent	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	9526695	217842377	31408244	27	32748											
ZNF678	339500	genome.wustl.edu	37	chr1	227843492	227843492	+	Missense_Mutation	SNP	A	A	C	1	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	taagagaatttatactggagAggaacctgacaaatgtaaaa	19	9	9	4	0	0	3	0	1	0	2	0	6	0	4	1	2	2	1	1	2	8	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:227843492A>C	ENST00000343776.5	+	4	1886	c.1541A>C	c.(1540-1542)gAg>gCg	p.E514A	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.E569A	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TATACTGGAGAGGAACCTGAC	0.323																																																	0													43	47	45					1																	227843492		2202	4295	6497	SO:0001583	missense	0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1541A>C	1.37:g.227843492A>C	ENSP00000344828:p.Glu514Ala		Q8IVQ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E569A	ENST00000343776.5	37	c.1706		1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.361655	0.41801	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.05855	3.38;3.47	1.08	-1.21	0.09524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12902	0.0313	M	0.61703	1.905	0.24222	N	0.995436	D	0.60160	0.987	P	0.58520	0.84	T	0.17745	-1.0359	9	0.72032	D	0.01	.	3.7321	0.08496	0.6724:0.0:0.0:0.3276	.	514	Q5SXM1	ZN678_HUMAN	A	514;569	ENSP00000344828:E514A;ENSP00000440403:E569A	ENSP00000344828:E514A	E	+	2	0	ZNF678	225910115	0.242000	0.23868	0.004000	0.12327	0.004000	0.04260	2.176000	0.42500	0.338000	0.23692	0.329000	0.21502	GAG	ZNF678	-	pfscan_Znf_C2H2	ENSG00000181450		0.323	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	-	0	97	0	A	NM_178549		227843492	1	tier1	-	no_errors	ENST00000397097	ensembl	human	known	74_37	missense	20.87	91	24	SNP	1.000	C	C	227843492	A	C	227843492	3	2	127	1	0	0	0	0	1	0	0	0	18133	304	11	4	1720	4	ZNF678	1	227843492	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	10001115	227843492	21407129	28	32749											
KIF26B	55083	genome.wustl.edu	37	chr1	245849500	245849500	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cccccggctgggcatcgccaGcctgtccaagacctcggagt	6	6	12	17	3	0	1	0	0	0	1	3	2	1	2	6	3	1	2	6	3	1	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:245849500G>T	ENST00000407071.2	+	12	3655	c.3215G>T	c.(3214-3216)aGc>aTc	p.S1072I	KIF26B_ENST00000366518.4_Missense_Mutation_p.S691I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1072					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)			GGCATCGCCAGCCTGTCCAAG	0.667																																																	0													26	32	30					1																	245849500		1959	4125	6084	SO:0001583	missense	0			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.3215G>T	1.37:g.245849500G>T	ENSP00000385545:p.Ser1072Ile		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1072I	ENST00000407071.2	37	c.3215	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272888	0.80580	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.80824	-1.42;-1.41	5.77	5.77	0.91146	.	.	.	.	.	D	0.89996	0.6877	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.89380	0.3681	9	0.52906	T	0.07	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	691;1072	B7WPD9;Q2KJY2	.;KI26B_HUMAN	I	1072;691;688	ENSP00000385545:S1072I;ENSP00000355475:S691I	ENSP00000355475:S691I	S	+	2	0	KIF26B	243916123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.754000	0.98908	2.744000	0.94065	0.561000	0.74099	AGC	KIF26B	-	NULL	ENSG00000162849		0.667	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0	14	0	G	XM_371354		245849500	1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	59.09	9	13	SNP	1.000	T	T	245849500	G	T	245849500	3	4	127	1	0	0	0	0	1	0	0	0	8322	971	34	3	3261	3	KIF26B	1	245849500	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	18006008	245849500	3401121	29	32750											
ZNF496	84838	genome.wustl.edu	37	chr1	247464330	247464330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagatgccggatgaagttgaCcctccagcggaagattttcc	10	9	11	11	2	0	4	0	2	0	2	2	6	2	6	4	2	2	1	4	2	2	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr1:247464330C>T	ENST00000294753.4	-	9	1719	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.V455I	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	419					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ATGAAGTTGACCCTCCAGCGG	0.652																																																	0													58	57	58					1																	247464330		2203	4300	6503	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1255G>A	1.37:g.247464330C>T	ENSP00000294753:p.Val419Ile		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.V455I	ENST00000294753.4	37	c.1363	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056502	0.55325	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.51325	0.71;0.71	4.36	4.36	0.52297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.281561	0.25456	N	0.030550	T	0.40322	0.1112	N	0.13272	0.32	0.23975	N	0.996299	D;P	0.57571	0.98;0.911	P;P	0.53035	0.716;0.589	T	0.22034	-1.0228	10	0.56958	D	0.05	-35.9857	9.9277	0.41503	0.203:0.797:0.0:0.0	.	455;419	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	I	419;455	ENSP00000294753:V419I;ENSP00000355454:V455I	ENSP00000294753:V419I	V	-	1	0	ZNF496	245530953	0.000000	0.05858	0.987000	0.45799	0.977000	0.68977	0.269000	0.18589	2.410000	0.81850	0.655000	0.94253	GTC	ZNF496	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000162714		0.652	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	-	0	61	0	C	NM_032752		247464330	-1	tier1	-	no_errors	ENST00000366498	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.907	T	T	247464330	C	T	247464330	3	4	127	1	0	0	0	0	1	0	0	0	17993	507	18	3	512	3	ZNF496	1	247464330	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	1614830	247464330	1786291	30	32751											
CRIM1	51232	genome.wustl.edu	37	chr2	36691738	36691738	+	Missense_Mutation	SNP	A	A	C	1	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	aggtgggatccactccccgcAtagtctctcgtggcgatggg	6	9	14	12	3	1	0	0	0	1	0	5	2	3	1	3	4	0	1	3	4	1	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr2:36691738A>C	ENST00000280527.2	+	5	1298	c.931A>C	c.(931-933)Ata>Cta	p.I311L		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	311					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)				CACTCCCCGCATAGTCTCTCG	0.483																																																	0													287	262	271					2																	36691738		2203	4300	6503	SO:0001583	missense	0			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.931A>C	2.37:g.36691738A>C	ENSP00000280527:p.Ile311Leu		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.I311L	ENST00000280527.2	37	c.931	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	A	16.98	3.271939	0.59649	.	.	ENSG00000150938	ENST00000280527;ENST00000426856	T	0.04502	3.61	5.94	4.8	0.61643	.	0.228767	0.45126	D	0.000389	T	0.04543	0.0124	L	0.43152	1.355	0.39210	D	0.963298	B	0.26195	0.144	B	0.19148	0.024	T	0.35101	-0.9802	10	0.10636	T	0.68	-13.8217	10.7613	0.46266	0.9265:0.0:0.0735:0.0	.	311	Q9NZV1	CRIM1_HUMAN	L	311;203	ENSP00000280527:I311L	ENSP00000280527:I311L	I	+	1	0	CRIM1	36545242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.715000	0.47210	2.275000	0.75901	0.528000	0.53228	ATA	CRIM1	-	NULL	ENSG00000150938		0.483	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	-	0	101	0	A	NM_016441		36691738	1	tier1	-	no_errors	ENST00000280527	ensembl	human	known	74_37	missense	21.13	112	30	SNP	1.000	C	C	36691738	A	C	36691738	3	2	127	1	0	0	0	0	1	0	0	0	3880	217	8	4	949	4	CRIM1	2	36691738	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09		36691738	206507635	31	32752											
VRK2	7444	genome.wustl.edu	37	chr2	58276079	58276079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggcaagaagattggctctgGaggatttggattgatatatt	11	13	14	3	0	1	3	0	1	1	2	1	6	1	6	0	5	0	2	0	5	4	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr2:58276079G>A	ENST00000435505.2	+	5	858	c.113G>A	c.(112-114)gGa>gAa	p.G38E	VRK2_ENST00000412104.2_Missense_Mutation_p.G38E|VRK2_ENST00000417641.2_Missense_Mutation_p.G38E|VRK2_ENST00000440705.2_Missense_Mutation_p.G15E|VRK2_ENST00000340157.4_Missense_Mutation_p.G38E			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	38	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATTGGCTCTGGAGGATTTGGA	0.343																																																	0													115	126	122					2																	58276079		2203	4300	6503	SO:0001583	missense	0			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.113G>A	2.37:g.58276079G>A	ENSP00000408002:p.Gly38Glu		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.G38E	ENST00000435505.2	37	c.113	CCDS1859.1	2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566973	0.86439	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705;ENST00000428021	D;D;D;D;D;T	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98;0.94	5.96	5.96	0.96718	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	0.99032	0.9669	H	0.98388	4.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.996	D	0.99160	1.0861	10	0.87932	D	0	-24.2392	18.5813	0.91172	0.0:0.0:1.0:0.0	.	38;38;38	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	E	38;38;38;38;38;38;15;43	ENSP00000408002:G38E;ENSP00000402375:G38E;ENSP00000404156:G38E;ENSP00000342381:G38E;ENSP00000398323:G15E;ENSP00000404961:G43E	ENSP00000342381:G38E	G	+	2	0	VRK2	58129583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.370000	0.73114	2.826000	0.97356	0.655000	0.94253	GGA	VRK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000028116		0.343	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VRK2	HGNC	protein_coding	OTTHUMT00000325304.2	-	0	71	0	G	NM_006296		58276079	1	tier1	-	no_errors	ENST00000340157	ensembl	human	known	74_37	missense	43.31	72	55	SNP	1.000	A	A	58276079	G	A	58276079	3	1	127	1	0	0	0	0	1	0	0	0	17269	1174	41	3	115	3	VRK2	2	58276079	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	21584341	58276079	184923294	32	32753											
SFXN5	94097	genome.wustl.edu	37	chr2	73215478	73215478	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggacattaaggcccacCtttgaaagaaaaaaataaaa	21	6	6	8	0	0	2	0	1	0	1	0	3	0	3	3	2	0	0	3	2	7	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr2:73215478C>G	ENST00000272433.2	-	10	665		c.e10-1		SFXN5_ENST00000474528.1_Splice_Site|SFXN5_ENST00000410065.1_Splice_Site	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5						iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						TAAGGCCCACCTTTGAAAGAA	0.498																																																	0													90	83	85					2																	73215478		2203	4300	6503	SO:0001630	splice_region_variant	0			AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"Sideroflexins"	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.535-1G>C	2.37:g.73215478C>G			A8K116|Q494Y3|Q53T29	Splice_Site	SNP	-	e10-1	ENST00000272433.2	37	c.535-1	CCDS1922.1	2	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016401	0.54468	.	.	ENSG00000144040	ENST00000272433;ENST00000411783;ENST00000410065	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.732	0.85436	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SFXN5	73068986	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.318000	0.72866	2.630000	0.89119	0.491000	0.48974	.	SFXN5	-	-	ENSG00000144040		0.498	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN5	HGNC	protein_coding	OTTHUMT00000251991.1	-	0	31	0	C	NM_144579	Intron	73215478	-1	tier1	-	no_errors	ENST00000272433	ensembl	human	known	74_37	splice_site	20.00	36	9	SNP	1.000	G	G	73215478	C	G	73215478	5	3	127	1	0	0	0	0	0	0	1	0	14243	695	24	5	508	5	SFXN5	2	73215478	Splice_Site	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	14939399	73215478	169983895	33	32754											
C2orf68	388969	genome.wustl.edu	37	chr2	85839075	85839075	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cgccccccaggcttgcagcaGtgccccggccggggatgcgg	4	4	16	17	4	0	0	0	0	0	0	0	1	0	1	6	5	4	3	6	5	0	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr2:85839075G>T	ENST00000306336.5	-	1	77	c.33C>A	c.(31-33)caC>caA	p.H11Q	USP39_ENST00000450066.2_5'Flank|C2orf68_ENST00000478626.1_5'Flank|C2orf68_ENST00000409734.3_Missense_Mutation_p.H11Q|USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	11										breast(1)|central_nervous_system(1)|endometrium(1)	3						GCTTGCAGCAGTGCCCCGGCC	0.731																																																	0													11	17	15					2																	85839075		1860	4037	5897	SO:0001583	missense	0				CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.33C>A	2.37:g.85839075G>T	ENSP00000304410:p.His11Gln		B4DT10|Q4G0J7|Q6ZVA6	Missense_Mutation	SNP	pfam_UPF0561	p.H11Q	ENST00000306336.5	37	c.33	CCDS42704.1	2	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613596	0.28712	.	.	ENSG00000168887	ENST00000306336;ENST00000409734	.	.	.	5.44	1.54	0.23209	.	0.403945	0.21281	N	0.077144	T	0.16727	0.0402	N	0.14661	0.345	0.19300	N	0.99997	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.12656	-1.0539	9	0.40728	T	0.16	-4.293	2.4159	0.04436	0.1496:0.2943:0.414:0.1421	.	11;11	Q2NKX9-3;Q2NKX9	.;CB068_HUMAN	Q	11	.	ENSP00000304410:H11Q	H	-	3	2	C2orf68	85692586	0.312000	0.24545	0.546000	0.28166	0.181000	0.23173	0.153000	0.16323	0.102000	0.17638	0.585000	0.79938	CAC	C2orf68	-	pfam_UPF0561	ENSG00000168887		0.731	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf68	HGNC	protein_coding	OTTHUMT00000329451.1	-	0	14	0	G	NM_001013649		85839075	-1	tier1	-	no_errors	ENST00000306336	ensembl	human	known	74_37	missense	40.00	9	6	SNP	0.491	T	T	85839075	G	T	85839075	3	4	127	1	0	0	0	0	1	0	0	0	2194	1020	36	3	483	3	C2orf68	2	85839075	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	12623597	85839075	157360298	34	32755											
IL1F10	84639	genome.wustl.edu	37	chr2	113831923	113831923	+	Missense_Mutation	SNP	A	A	G	1	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	cagaattaaatatgcagaccAgaaggctctatacacaagag	18	7	8	8	0	1	4	0	0	1	4	1	4	1	4	1	1	2	2	1	1	8	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr2:113831923A>G	ENST00000393197.2	+	2	471	c.50A>G	c.(49-51)cAg>cGg	p.Q17R	IL1F10_ENST00000337569.3_Intron|IL1F10_ENST00000341010.2_Missense_Mutation_p.Q17R	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	17						extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						TATGCAGACCAGAAGGCTCTA	0.532																																																	0													106	95	99					2																	113831923		2203	4300	6503	SO:0001583	missense	0			AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"Interleukins and interleukin receptors"	15552	protein-coding gene	gene with protein product	"FIL1- theta", "interleukin-1 receptor antagonist FKSG75"	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.50A>G	2.37:g.113831923A>G	ENSP00000376893:p.Gln17Arg		Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1,prints_IL-1_beta	p.Q17R	ENST00000393197.2	37	c.50	CCDS2112.1	2	.	.	.	.	.	.	.	.	.	.	a	11.28	1.591560	0.28357	.	.	ENSG00000136697	ENST00000341010;ENST00000393197	T;T	0.11169	2.8;2.8	4.76	4.76	0.60689	.	2.278500	0.02388	N	0.079472	T	0.36524	0.0970	M	0.74258	2.255	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.00263	-1.1866	10	0.62326	D	0.03	0.0357	11.2227	0.48864	1.0:0.0:0.0:0.0	.	17	Q8WWZ1	IL1FA_HUMAN	R	17	ENSP00000341794:Q17R;ENSP00000376893:Q17R	ENSP00000341794:Q17R	Q	+	2	0	IL1F10	113548394	1.000000	0.71417	0.976000	0.42696	0.472000	0.32918	3.976000	0.56867	2.081000	0.62600	0.529000	0.55759	CAG	IL1F10	-	superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36	ENSG00000136697		0.532	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	IL1F10	HGNC	protein_coding	OTTHUMT00000330725.1	-	0	48	0	A	NM_173161		113831923	1	tier1	-	no_errors	ENST00000341010	ensembl	human	known	74_37	missense	36.73	31	18	SNP	0.997	G	G	113831923	A	G	113831923	3	3	127	1	0	0	0	0	1	0	0	0	7679	188	7	4	56	4	IL1F10	2	113831923	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	27992848	113831923	129367450	35	32756											
MYO7B	4648	genome.wustl.edu	37	chr2	128391782	128391782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttgccaacacacgggtgcGggatgtgtgtgacagcattg	8	9	16	8	2	0	1	0	1	0	0	0	2	0	2	1	3	4	2	1	3	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr2:128391782G>A	ENST00000409816.2	+	39	5497	c.5465G>A	c.(5464-5466)cGg>cAg	p.R1822Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.R1822Q|MYO7B_ENST00000389524.4_Missense_Mutation_p.R1823Q|MYO7B_ENST00000409090.1_Missense_Mutation_p.R675Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1822	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.|MyTH4 3. {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)		ACACGGGTGCGGGATGTGTGT	0.642																																																	0													26	30	29					2																	128391782		2021	4178	6199	SO:0001583	missense	0				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.5465G>A	2.37:g.128391782G>A	ENSP00000386461:p.Arg1822Gln		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.R1823Q	ENST00000409816.2	37	c.5468	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	g	19.50	3.840069	0.71488	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.14	4.05	0.47172	Band 4.1 domain (1);FERM domain (1);	0.127661	0.50627	D	0.000102	T	0.82250	0.4996	L	0.59436	1.845	0.27555	N	0.950382	D	0.76494	0.999	P	0.61533	0.89	T	0.73757	-0.3882	10	0.25751	T	0.34	.	13.489	0.61384	0.1373:0.0:0.8627:0.0	.	1822	Q6PIF6	MYO7B_HUMAN	Q	1823;1822;918;1822;675	ENSP00000374175:R1823Q;ENSP00000415090:R1822Q;ENSP00000386461:R1822Q;ENSP00000386850:R675Q	ENSP00000272666:R918Q	R	+	2	0	MYO7B	128108252	1.000000	0.71417	0.991000	0.47740	0.560000	0.35617	2.828000	0.48120	2.386000	0.81285	0.556000	0.70494	CGG	MYO7B	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000169994		0.642	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	-	0	61	0	G	XM_291001		128391782	1	tier1	-	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	41.84	57	41	SNP	0.993	A	A	128391782	G	A	128391782	3	1	127	1	0	0	0	0	1	0	0	0	10121	1116	39	1	5619	1	MYO7B	2	128391782	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	14559859	128391782	114807591	36	32757											
HS6ST1	9394	genome.wustl.edu	37	chr2	129025972	129025972	+	Missense_Mutation	SNP	T	T	C	0	1	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	gagctcctcgatgcgccggaTggtgtcttcatccacctcca	6	10	10	15	3	2	0	1	0	1	0	6	3	5	1	5	2	2	1	5	2	0	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr2:129025972T>C	ENST00000259241.6	-	2	1013	c.1000A>G	c.(1000-1002)Atc>Gtc	p.I334V		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	334					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)		ATGCGCCGGATGGTGTCTTCA	0.607																																																	0													57	62	60					2																	129025972		2175	4280	6455	SO:0001583	missense	0			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.1000A>G	2.37:g.129025972T>C	ENSP00000259241:p.Ile334Val		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.I334V	ENST00000259241.6	37	c.1000	CCDS42748.1	2	.	.	.	.	.	.	.	.	.	.	T	10.27	1.303877	0.23736	.	.	ENSG00000136720	ENST00000259241	T	0.74106	-0.81	4.48	2.06	0.26882	.	0.048437	0.85682	D	0.000000	T	0.56992	0.2023	L	0.28115	0.83	0.52099	D	0.999944	B	0.11235	0.004	B	0.17722	0.019	T	0.38067	-0.9678	9	.	.	.	-2.109	8.6194	0.33851	0.0:0.1598:0.0:0.8402	.	334	O60243	H6ST1_HUMAN	V	334	ENSP00000259241:I334V	.	I	-	1	0	HS6ST1	128742442	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	2.918000	0.48829	0.213000	0.20722	0.379000	0.24179	ATC	HS6ST1	-	pfam_Sulfotransferase	ENSG00000136720		0.607	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	-	0	77	0	T	NM_004807		129025972	-1	tier1	-	no_errors	ENST00000259241	ensembl	human	known	74_37	missense	35.96	73	41	SNP	1.000	C	C	129025972	T	C	129025972	3	2	127	1	0	0	0	0	1	0	0	0	7397	1464	51	4	239	4	HS6ST1	2	129025972	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	634190	129025972	114173401	37	32758											
NXPH2	11249	genome.wustl.edu	37	chr2	139429033	139429033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgaatctccgtgatgttgGccagccaatcccaaaagttt	10	11	8	12	1	1	2	0	2	1	0	3	2	2	2	5	1	1	2	5	1	4	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr2:139429033G>T	ENST00000272641.3	-	2	360	c.254C>A	c.(253-255)gCc>gAc	p.A85D		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	85	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CGTGATGTTGGCCAGCCAATC	0.488																																																	0													86	85	85					2																	139429033		1881	4103	5984	SO:0001583	missense	0			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.254C>A	2.37:g.139429033G>T	ENSP00000272641:p.Ala85Asp		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.A85D	ENST00000272641.3	37	c.254	CCDS46421.1	2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220100	0.58560	.	.	ENSG00000144227	ENST00000272641	.	.	.	5.66	5.66	0.87406	.	0.050946	0.85682	D	0.000000	T	0.38639	0.1048	N	0.03608	-0.345	0.58432	D	0.999991	B	0.26809	0.16	B	0.30943	0.122	T	0.28650	-1.0037	8	.	.	.	-19.2737	20.1253	0.97977	0.0:0.0:1.0:0.0	.	85	O95156	NXPH2_HUMAN	D	85	.	.	A	-	2	0	NXPH2	139145503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.841000	0.86834	2.832000	0.97577	0.655000	0.94253	GCC	NXPH2	-	pfam_NXPH/NXPE,pirsf_Neurexophilin	ENSG00000144227		0.488	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH2	HGNC	protein_coding	OTTHUMT00000331901.1	-	0	47	0	G			139429033	-1	tier1	-	no_errors	ENST00000272641	ensembl	human	known	74_37	missense	17.65	56	12	SNP	1.000	T	T	139429033	G	T	139429033	3	4	127	1	0	0	0	0	1	0	0	0	10830	1203	42	3	544	3	NXPH2	2	139429033	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	10403061	139429033	103770340	38	32759											
CCDC148	130940	genome.wustl.edu	37	chr2	159028672	159028672	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctttcttggaggtttttGaggactaatttttggtaata	8	19	10	4	0	1	1	0	1	1	0	2	3	2	3	1	4	0	2	1	4	3	9			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr2:159028672G>A	ENST00000283233.5	-	14	2042	c.1729C>T	c.(1729-1731)Caa>Taa	p.Q577*	CCDC148_ENST00000409187.1_Nonsense_Mutation_p.Q586*|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	577								p.Q577*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGAGGTTTTTGAGGACTAATT	0.343																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											68	71	70					2																	159028672		2203	4299	6502	SO:0001587	stop_gained	0				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1729C>T	2.37:g.159028672G>A	ENSP00000283233:p.Gln577*		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Nonsense_Mutation	SNP	NULL	p.Q577*	ENST00000283233.5	37	c.1729	CCDS33304.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.567178	0.97671	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	.	.	.	5.93	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.722	14.7351	0.69409	0.0823:0.0:0.9177:0.0	.	.	.	.	X	577;586	.	ENSP00000283233:Q577X	Q	-	1	0	CCDC148	158736918	0.993000	0.37304	1.000000	0.80357	0.825000	0.46686	3.047000	0.49854	2.812000	0.96745	0.555000	0.69702	CAA	CCDC148	-	NULL	ENSG00000153237		0.343	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	HGNC	protein_coding	OTTHUMT00000333270.1	-	0	38	0	G	NM_138803		159028672	-1	tier1	-	no_errors	ENST00000283233	ensembl	human	known	74_37	nonsense	30.61	34	15	SNP	0.984	A	A	159028672	G	A	159028672	4	1	127	1	0	0	0	0	0	1	0	0	2789	1299	45	3	50	3	CCDC148	2	159028672	Nonsense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	19599639	159028672	84170701	39	32760											
TTN	7273	genome.wustl.edu	37	chr2	179463508	179463508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagtcgctgggtctgatgGcagacttgctggacccacgc	7	8	14	12	2	1	2	0	1	1	1	2	3	1	3	1	3	2	4	1	3	0	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr2:179463508G>A	ENST00000591111.1	-	241	52230	c.52006C>T	c.(52006-52008)Cca>Tca	p.P17336S	TTN_ENST00000589042.1_Missense_Mutation_p.P18977S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P16409S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P9912S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P10037S|TTN_ENST00000342175.6_Missense_Mutation_p.P10104S			Q8WZ42	TITIN_HUMAN	titin	17336	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTCTGATGGCAGACTTGCT	0.423																																																	0													151	150	150					2																	179463508		1879	4090	5969	SO:0001583	missense	0			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.52006C>T	2.37:g.179463508G>A	ENSP00000465570:p.Pro17336Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P16409S	ENST00000591111.1	37	c.49225		2	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791448	0.50102	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.91	5.91	0.95273	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71863	0.3390	L	0.60904	1.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.72134	-0.4382	9	0.87932	D	0	.	20.2885	0.98538	0.0:0.0:1.0:0.0	.	9912;10037;10104;17336	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	16409;9912;10104;10037;9910	ENSP00000343764:P16409S;ENSP00000434586:P9912S;ENSP00000340554:P10104S;ENSP00000352154:P10037S	ENSP00000340554:P10104S	P	-	1	0	TTN	179171753	1.000000	0.71417	0.996000	0.52242	0.841000	0.47740	6.609000	0.74173	2.791000	0.96007	0.650000	0.86243	CCA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	24	0	G	NM_133378		179463508	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	179463508	G	A	179463508	3	1	127	1	0	0	0	0	1	0	0	0	16784	1203	42	3	51052	3	TTN	2	179463508	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	20434836	179463508	63735865	40	32761											
ADAM23	8745	genome.wustl.edu	37	chr2	207406859	207406859	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacctgcaatggacttcaGtaagtgggaatctcattggc	11	11	10	9	0	3	0	3	0	1	0	4	2	3	2	1	3	2	2	1	3	4	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr2:207406859G>T	ENST00000264377.3	+	5	984		c.e5+1		ADAM23_ENST00000374416.1_Splice_Site|ADAM23_ENST00000374415.3_Splice_Site	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23						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)		ATGGACTTCAGTAAGTGGGAA	0.443																																					Melanoma(194;1127 2130 19620 24042 27855)												0													112	103	106					2																	207406859		2203	4300	6503	SO:0001630	splice_region_variant	0			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.656+1G>T	2.37:g.207406859G>T			A2RU59	Splice_Site	SNP	-	e5+1	ENST00000264377.3	37	c.656+1	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842333	0.71488	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5769	0.91158	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM23	207115104	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.837000	0.86796	2.471000	0.83476	0.650000	0.86243	.	ADAM23	-	-	ENSG00000114948		0.443	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	-	0	59	0	G	NM_003812	Intron	207406859	1	tier1	-	no_errors	ENST00000264377	ensembl	human	known	74_37	splice_site	73.26	23	63	SNP	1.000	T	T	207406859	G	T	207406859	5	4	127	1	0	0	0	0	0	0	1	0	245	1043	36	3	675	3	ADAM23	2	207406859	Splice_Site	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	27943351	207406859	35792514	41	32762											
FN1	2335	genome.wustl.edu	37	chr2	216269251	216269251	+	Silent	SNP	C	C	T	0	0	0	1	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	cccacattgtactgcctgggCtgtcctcttcgggtaaggcc	5	11	11	14	1	1	0	0	0	1	0	3	0	2	0	4	3	2	3	4	3	2	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr2:216269251C>T	ENST00000359671.1	-	20	3379	c.3114G>A	c.(3112-3114)caG>caA	p.Q1038Q	FN1_ENST00000354785.4_Silent_p.Q1038Q|FN1_ENST00000443816.1_Silent_p.Q1038Q|FN1_ENST00000432072.2_Silent_p.Q1038Q|FN1_ENST00000446046.1_Silent_p.Q1038Q|FN1_ENST00000356005.4_Silent_p.Q1038Q|FN1_ENST00000323926.6_Silent_p.Q1038Q|FN1_ENST00000346544.3_Silent_p.Q1038Q|FN1_ENST00000357009.2_Silent_p.Q1038Q|FN1_ENST00000345488.5_Silent_p.Q1038Q|FN1_ENST00000357867.4_Silent_p.Q1038Q|FN1_ENST00000421182.1_Silent_p.Q1038Q|FN1_ENST00000336916.4_Silent_p.Q1038Q			P02751	FINC_HUMAN	fibronectin 1	1038	Fibronectin type-III 5. {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)	ACTGCCTGGGCTGTCCTCTTC	0.547																																																	0													113	101	105					2																	216269251		2203	4300	6503	SO:0001819	synonymous_variant	0				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.3114G>A	2.37:g.216269251C>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	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.Q1038	ENST00000359671.1	37	c.3114		2																																																																																			FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.547	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding			0	88	0	C	NM_212476		216269251	-1			no_errors	ENST00000354785	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.988	T	T	216269251	C	T	216269251	2	4	127	1	0	0	0	0	0	0	0	1	5984	796	28	3		3	FN1	2	216269251	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	8862392	216269251	26930122	42	32763											
MTMR14	64419	genome.wustl.edu	37	chr3	9739484	9739484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcagtattcaggagcGggctgtcctgcacacagact	8	9	13	11	1	1	1	1	0	0	1	2	2	2	2	1	3	2	4	1	3	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:9739484G>A	ENST00000296003.4	+	18	1825	c.1703G>A	c.(1702-1704)cGg>cAg	p.R568Q	MTMR14_ENST00000351233.5_Intron|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	568					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)					ATTCAGGAGCGGGCTGTCCTG	0.577																																																	0													215	224	221					3																	9739484		2052	4193	6245	SO:0001583	missense	0			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.1703G>A	3.37:g.9739484G>A	ENSP00000296003:p.Arg568Gln		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	NULL	p.R568Q	ENST00000296003.4	37	c.1703	CCDS43043.1	3	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941282	0.53079	.	.	ENSG00000163719	ENST00000296003	T	0.22539	1.95	5.75	3.96	0.45880	.	0.185394	0.49916	D	0.000137	T	0.10078	0.0247	N	0.13043	0.29	0.80722	D	1	B	0.18166	0.026	B	0.04013	0.001	T	0.16630	-1.0396	10	0.23891	T	0.37	-4.7525	5.5454	0.17061	0.3633:0.0:0.6367:0.0	.	568	Q8NCE2	MTMRE_HUMAN	Q	568	ENSP00000296003:R568Q	ENSP00000296003:R568Q	R	+	2	0	MTMR14	9714484	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.499000	0.60380	1.438000	0.47492	0.655000	0.94253	CGG	MTMR14	-	NULL	ENSG00000163719		0.577	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR14	HGNC	protein_coding	OTTHUMT00000338435.1	-	0	50	0	G	NM_022485		9739484	1	tier1	-	no_errors	ENST00000296003	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	A	A	9739484	G	A	9739484	3	1	127	1	0	0	0	0	1	0	0	0	9980	1116	39	1	1773	1	MTMR14	3	9739484	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09		9739484	188282946	43	32764											
ATP2B2	491	genome.wustl.edu	37	chr3	10442741	10442741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattgccctggatgaagaggCcgtcggcagggaggaggtca	9	6	17	9	2	1	2	1	1	0	1	2	5	1	5	2	6	1	1	2	6	1	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:10442741C>T	ENST00000352432.4	-	4	746	c.677G>A	c.(676-678)gGc>gAc	p.G226D	ATP2B2_ENST00000343816.4_Missense_Mutation_p.G226D|ATP2B2_ENST00000397077.1_Missense_Mutation_p.G226D|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G226D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G226D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	226					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						GATGAAGAGGCCGTCGGCAGG	0.572																																					Ovarian(125;1619 1709 15675 19819 38835)												0													90	83	85					3																	10442741		2203	4300	6503	SO:0001583	missense	0			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.677G>A	3.37:g.10442741C>T	ENSP00000324172:p.Gly226Asp		O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.G226D	ENST00000352432.4	37	c.677	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.379919	0.95945	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.6	5.6	0.85130	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	H	0.97564	4.03	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	0.98853	1.0759	10	0.87932	D	0	-38.1487	19.6187	0.95647	0.0:1.0:0.0:0.0	.	226;238;226	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	D	226;226;226;226;226;192;113;226	ENSP00000324172:G226D;ENSP00000373311:G226D;ENSP00000380267:G226D;ENSP00000353414:G226D;ENSP00000344677:G226D;ENSP00000414854:G113D	ENSP00000342954:G226D	G	-	2	0	ATP2B2	10417741	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.627000	0.88993	0.650000	0.86243	GGC	ATP2B2	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000157087		0.572	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	-	0	73	0	C	NM_001683		10442741	-1	tier1	-	no_errors	ENST00000352432	ensembl	human	known	74_37	missense	22.47	69	20	SNP	1.000	T	T	10442741	C	T	10442741	3	4	127	1	0	0	0	0	1	0	0	0	1141	739	26	3	3130	3	ATP2B2	3	10442741	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	703257	10442741	187579689	44	32765											
FBLN2	2199	genome.wustl.edu	37	chr3	13670421	13670421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacatcaacgagtgcacGtcactgtccgagccatgtcg	10	7	11	13	4	2	1	2	0	0	1	4	3	3	1	2	0	3	2	2	0	1	0	rs370055863		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:13670421G>A	ENST00000295760.7	+	11	2514	c.2445G>A	c.(2443-2445)acG>acA	p.T815T	FBLN2_ENST00000404922.3_Silent_p.T862T|FBLN2_ENST00000492059.1_Silent_p.T862T|FBLN2_ENST00000535798.1_Silent_p.T841T	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	815	EGF-like 5; 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)			ACGAGTGCACGTCACTGTCCG	0.662																																																	0								G	,,	1,4349		0,1,2174	37	42	40		2586,2586,2445	-10.2	0	3		40	0,8570		0,0,4285	no	coding-synonymous,coding-synonymous,coding-synonymous	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	,,	0,1,6459	AA,AG,GG		0.0,0.023,0.0077	,,	862/1232,862/1232,815/1185	13670421	1,12919	2175	4285	6460	SO:0001819	synonymous_variant	0			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.2445G>A	3.37:g.13670421G>A			B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.T862	ENST00000295760.7	37	c.2586	CCDS46762.1	3																																																																																			FBLN2	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000163520		0.662	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	-	0	73	0	G	NM_001004019		13670421	1	tier1	-	no_errors	ENST00000404922	ensembl	human	known	74_37	silent	36.25	51	29	SNP	0.002	A	A	13670421	G	A	13670421	2	1	127	1	0	0	0	0	0	0	0	1	5721	1132	40	1		1	FBLN2	3	13670421	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	3227680	13670421	184352009	45	32766											
PDCD6IP	10015	genome.wustl.edu	37	chr3	33906852	33906852	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ctgctgcgccagctccatcaCaaacgcctggctcagctcct	7	8	8	18	2	2	0	2	0	0	0	4	0	4	0	4	1	5	4	4	1	1	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:33906852C>G	ENST00000307296.3	+	17	2739	c.2362C>G	c.(2362-2364)Caa>Gaa	p.Q788E	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.Q793E			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	788	Interaction with EIAV p9.|Pro-rich.|Self-association.				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						AGCTCCATCACAAACGCCTGG	0.597																																																	0													52	48	50					3																	33906852		2203	4300	6503	SO:0001583	missense	0			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.2362C>G	3.37:g.33906852C>G	ENSP00000307387:p.Gln788Glu		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.Q793E	ENST00000307296.3	37	c.2377	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	C	8.201	0.798204	0.16397	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.14022	2.54;2.54	5.71	4.8	0.61643	.	4.427580	0.00496	N	0.000155	T	0.18002	0.0432	L	0.48642	1.525	0.09310	N	1	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.09377	0.004;0.004;0.004	T	0.27297	-1.0078	10	0.30078	T	0.28	-0.5633	12.2192	0.54425	0.133:0.7388:0.1283:0.0	.	569;793;788	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	E	788;793	ENSP00000307387:Q788E;ENSP00000411825:Q793E	ENSP00000307387:Q788E	Q	+	1	0	PDCD6IP	33881856	0.031000	0.19500	0.008000	0.14137	0.193000	0.23685	2.528000	0.45624	2.680000	0.91292	0.655000	0.94253	CAA	PDCD6IP	-	NULL	ENSG00000170248		0.597	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	-	0	70	0	C			33906852	1	tier1	-	no_errors	ENST00000457054	ensembl	human	known	74_37	missense	57.41	23	31	SNP	0.007	G	G	33906852	C	G	33906852	3	3	127	1	0	0	0	0	1	0	0	0	11663	479	17	5	2443	5	PDCD6IP	3	33906852	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	20236431	33906852	164115578	46	32767											
CX3CR1	1524	genome.wustl.edu	37	chr3	39307268	39307268	+	Missense_Mutation	SNP	T	T	C	0	1	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	aatcataacgttgtagggtgTccagaagaggaaaaacacga	17	7	11	6	2	1	2	1	0	0	2	2	4	2	3	1	2	2	2	1	2	6	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:39307268T>C	ENST00000541347.1	-	2	972	c.733A>G	c.(733-735)Aca>Gca	p.T245A	CX3CR1_ENST00000399220.2_Missense_Mutation_p.T245A|CX3CR1_ENST00000358309.3_Missense_Mutation_p.T277A|CX3CR1_ENST00000542107.1_Missense_Mutation_p.T245A	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	245					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTGTAGGGTGTCCAGAAGAGG	0.468																																																	0													110	114	113					3																	39307268		1931	4136	6067	SO:0001583	missense	0			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.733A>G	3.37:g.39307268T>C	ENSP00000439140:p.Thr245Ala		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.T277A	ENST00000541347.1	37	c.829	CCDS43069.1	3	.	.	.	.	.	.	.	.	.	.	T	9.845	1.192006	0.21954	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.115558	0.64402	D	0.000012	T	0.59032	0.2164	L	0.42487	1.325	0.43808	D	0.996363	P	0.43788	0.817	B	0.40534	0.332	T	0.57010	-0.7884	10	0.10636	T	0.68	.	10.1288	0.42665	0.0:0.0785:0.0:0.9215	.	245	P49238	CX3C1_HUMAN	A	245;253;277;245;245	ENSP00000382166:T245A;ENSP00000351059:T277A;ENSP00000439140:T245A;ENSP00000444928:T245A	ENSP00000351059:T277A	T	-	1	0	CX3CR1	39282272	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	0.660000	0.25009	2.200000	0.70718	0.533000	0.62120	ACA	CX3CR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000168329		0.468	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	HGNC	protein_coding	OTTHUMT00000343613.1	-	0	44	0	T	NM_001337		39307268	-1	tier1	-	no_errors	ENST00000358309	ensembl	human	known	74_37	missense	58.82	14	20	SNP	0.997	C	C	39307268	T	C	39307268	3	2	127	1	0	0	0	0	1	0	0	0	4084	1667	58	4	338	4	CX3CR1	3	39307268	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	5400416	39307268	158715162	47	32768											
NBEAL2	23218	genome.wustl.edu	37	chr3	47044496	47044496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccagcgccgagacatattcaCgcatgcgtctgaagctggtg	9	8	12	12	4	2	2	1	1	1	1	2	3	2	2	2	1	3	2	2	1	2	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:47044496C>T	ENST00000450053.3	+	34	5688	c.5509C>T	c.(5509-5511)Cgc>Tgc	p.R1837C	NBEAL2_ENST00000383740.2_Missense_Mutation_p.R116C|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1653C	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1837					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)		GACATATTCACGCATGCGTCT	0.602																																																	0													65	71	69					3																	47044496		2066	4193	6259	SO:0001583	missense	0			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.5509C>T	3.37:g.47044496C>T	ENSP00000415034:p.Arg1837Cys		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1837C	ENST00000450053.3	37	c.5509	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.373763|4.373763	0.82573|0.82573	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053|ENST00000443829	T;T;T|.	0.65364|.	-0.12;0.54;-0.15|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.057947|.	0.64402|.	D|.	0.000004|.	T|T	0.75729|0.75729	0.3889|0.3889	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.66351|.	0.938;0.943|.	T|T	0.77360|0.77360	-0.2617|-0.2617	10|5	0.87932|.	D|.	0|.	.|.	12.198|12.198	0.54309|0.54309	0.1706:0.8294:0.0:0.0|0.1706:0.8294:0.0:0.0	.|.	1653;1837|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	C|M	1653;116;1837|205	ENSP00000292309:R1653C;ENSP00000373246:R116C;ENSP00000415034:R1837C|.	ENSP00000292309:R1653C|.	R|T	+|+	1|2	0|0	NBEAL2|NBEAL2	47019500|47019500	0.890000|0.890000	0.30428|0.30428	0.975000|0.975000	0.42487|0.42487	0.908000|0.908000	0.53690|0.53690	1.887000|1.887000	0.39698|0.39698	2.610000|2.610000	0.88304|0.88304	0.655000|0.655000	0.94253|0.94253	CGC|ACG	NBEAL2	-	NULL	ENSG00000160796		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	-	0	26	0	C	XM_291064		47044496	1	tier1	-	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.990	T	T	47044496	C	T	47044496	3	4	127	1	0	0	0	0	1	0	0	0	10227	536	19	1	5643	1	NBEAL2	3	47044496	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	7737228	47044496	150977934	48	32769											
ABHD14B	84836	genome.wustl.edu	37	chr3	52003994	52003994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggcagcattgattttgtCagtgcagatgggggccactg	7	12	15	7	0	1	2	1	1	0	1	1	2	1	2	1	3	2	4	1	3	0	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:52003994C>G	ENST00000483233.1	-	4	924	c.418G>C	c.(418-420)Gac>Cac	p.D140H	PCBP4_ENST00000428823.2_5'Flank|ABHD14B_ENST00000315877.10_Missense_Mutation_p.D138H|ABHD14B_ENST00000395008.2_Missense_Mutation_p.D140H|RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000487005.1_5'UTR|ABHD14B_ENST00000361143.5_Missense_Mutation_p.D140H|PCBP4_ENST00000355852.2_5'Flank|PCBP4_ENST00000484633.1_5'Flank|RP11-155D18.14_ENST00000489595.2_Intron|ABHD14B_ENST00000461108.1_Missense_Mutation_p.D140H|PCBP4_ENST00000395013.3_5'Flank|PCBP4_ENST00000461554.1_5'Flank|ABHD14B_ENST00000525795.1_Missense_Mutation_p.D140H			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	140					metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		TTGATTTTGTCAGTGCAGATG	0.592																																																	0													74	80	78					3																	52003994		2203	4300	6503	SO:0001583	missense	0			AK075112	CCDS2842.1	3p21.2	2009-01-12			ENSG00000114779	ENSG00000114779		"Abhydrolase domain containing"	28235	protein-coding gene	gene with protein product							Standard	NM_032750		Approved	MGC15429, CIB	uc011bdy.2	Q96IU4	OTTHUMG00000157816	ENST00000483233.1:c.418G>C	3.37:g.52003994C>G	ENSP00000420065:p.Asp140His		Q86VK8|Q8N8W5	Missense_Mutation	SNP	NULL	p.D140H	ENST00000483233.1	37	c.418	CCDS2842.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.160564	0.94727	.	.	ENSG00000114779	ENST00000483233;ENST00000315877;ENST00000395008;ENST00000361143;ENST00000439982;ENST00000461108;ENST00000525795	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	5.58	5.58	0.84498	.	0.214071	0.47852	D	0.000220	T	0.48660	0.1512	L	0.58302	1.8	0.80722	D	1	D;D	0.76494	0.999;0.988	D;P	0.66602	0.945;0.84	T	0.44174	-0.9345	10	0.72032	D	0.01	-16.0208	19.1914	0.93667	0.0:1.0:0.0:0.0	.	140;140	B4DQI4;Q96IU4	.;ABHEB_HUMAN	H	140;138;140;140;115;140;140	ENSP00000420065:D140H;ENSP00000318248:D138H;ENSP00000378455:D140H;ENSP00000354841:D140H;ENSP00000433388:D140H	ENSP00000318248:D138H	D	-	1	0	ABHD14B	51979034	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.628000	0.61282	2.626000	0.88956	0.655000	0.94253	GAC	ABHD14B	-	NULL	ENSG00000114779		0.592	ABHD14B-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABHD14B	HGNC	protein_coding	OTTHUMT00000349673.1	-	0	55	0	C	NM_032750		52003994	-1	tier1	-	no_errors	ENST00000361143	ensembl	human	known	74_37	missense	60.53	15	23	SNP	1.000	G	G	52003994	C	G	52003994	3	3	127	1	0	0	0	0	1	0	0	0	80	826	29	5	222	5	ABHD14B	3	52003994	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	4959498	52003994	146018436	49	32770											
PDZRN3	23024	genome.wustl.edu	37	chr3	73433779	73433779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgagctccaggagctcgcgGaagcgctcgcactcgtccac	7	7	12	15	5	0	1	0	1	0	0	5	3	2	3	2	2	3	4	2	2	1	1	rs377558165		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:73433779G>A	ENST00000263666.4	-	10	2052	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F	PDZRN3_ENST00000479530.1_Silent_p.F363F|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.F368F|PDZRN3_ENST00000466780.1_Silent_p.F303F|PDZRN3_ENST00000462146.2_Silent_p.F303F	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	646					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)		GGAGCTCGCGGAAGCGCTCGC	0.657																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	56	61	60		1938	2.2	1	3		60	0,8600		0,0,4300	no	coding-synonymous	PDZRN3	NM_015009.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		646/1067	73433779	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1938C>T	3.37:g.73433779G>A			A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.F646	ENST00000263666.4	37	c.1938	CCDS33789.1	3																																																																																			PDZRN3	-	NULL	ENSG00000121440		0.657	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0	32	0	G	XM_041363		73433779	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	silent	56.52	10	13	SNP	1.000	A	A	73433779	G	A	73433779	2	1	127	1	0	0	0	0	0	0	0	1	11748	1165	41	3		3	PDZRN3	3	73433779	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	21429785	73433779	124588651	50	32771											
OR5K4	403278	genome.wustl.edu	37	chr3	98073474	98073474	+	Silent	SNP	T	T	C	0	1	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	atttgtcttctcatgtatatTggaccatctgaagaaggaga	12	14	9	6	0	3	3	1	1	3	2	4	5	3	4	1	2	0	1	1	2	4	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:98073474T>C	ENST00000354924.2	+	1	777	c.777T>C	c.(775-777)atT>atC	p.I259I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	259						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)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TCATGTATATTGGACCATCTG	0.348																																																	0													120	121	121					3																	98073474		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"GPCR / Class A : Olfactory receptors"	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.777T>C	3.37:g.98073474T>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I259	ENST00000354924.2	37	c.777	CCDS33802.1	3																																																																																			OR5K4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196098		0.348	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K4	HGNC	protein_coding	OTTHUMT00000359114.1	-	0	88	0	T			98073474	1	tier1	-	no_errors	ENST00000354924	ensembl	human	known	74_37	silent	41.86	25	18	SNP	0.859	C	C	98073474	T	C	98073474	2	2	127	1	0	0	0	0	0	0	0	1	11208	1800	63	4		4	OR5K4	3	98073474	Silent	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	24639695	98073474	99948956	51	32772											
CCDC80	151887	genome.wustl.edu	37	chr3	112358594	112358594	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgcgagacctcccagtgtgCctcagaaaccgagctggcct	8	6	11	16	3	1	2	1	0	0	2	2	4	2	2	6	1	3	1	6	1	1	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:112358594C>T	ENST00000206423.3	-	2	1112	c.159G>A	c.(157-159)agG>agA	p.R53R	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Silent_p.R53R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	53					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						TCCCAGTGTGCCTCAGAAACC	0.572																																																	0													77	67	70					3																	112358594		2203	4300	6503	SO:0001819	synonymous_variant	0			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.159G>A	3.37:g.112358594C>T			D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	NULL	p.R53	ENST00000206423.3	37	c.159	CCDS2968.1	3																																																																																			CCDC80	-	NULL	ENSG00000091986		0.572	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	-	0	79	0	C	NM_199511		112358594	-1	tier1	-	no_errors	ENST00000206423	ensembl	human	known	74_37	silent	5.15	92	5	SNP	1.000	T	T	112358594	C	T	112358594	2	4	127	1	0	0	0	0	0	0	0	1	2861	738	26	3		3	CCDC80	3	112358594	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	14285120	112358594	85663836	52	32773											
PTPLB	201562	genome.wustl.edu	37	chr3	123301134	123301134	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctatggtagctacccttAgccaggtatgctcggaccag	9	9	12	11	1	0	0	0	0	0	0	1	1	0	1	3	4	4	5	3	4	5	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:123301134A>T	ENST00000383657.5	-	2	355	c.198T>A	c.(196-198)gcT>gcA	p.A66A		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	66					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		AGCTACCCTTAGCCAGGTATG	0.373																																																	0													46	44	44					3																	123301134		1809	4081	5890	SO:0001819	synonymous_variant	0			AK074605	CCDS46895.1	3q21.1	2010-04-30			ENSG00000206527	ENSG00000206527			9640	protein-coding gene	gene with protein product		615939				15024066	Standard	NM_198402		Approved		uc003egj.2	Q6Y1H2	OTTHUMG00000159529	ENST00000383657.5:c.198T>A	3.37:g.123301134A>T				Silent	SNP	pfam_Tyr_Pase-like_PTPLA	p.A66	ENST00000383657.5	37	c.198	CCDS46895.1	3																																																																																			PTPLB	-	NULL	ENSG00000206527		0.373	PTPLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLB	HGNC	protein_coding	OTTHUMT00000356021.3	-	0	68	0	A	NM_198402		123301134	-1	tier1	-	no_errors	ENST00000383657	ensembl	human	known	74_37	silent	15.32	105	19	SNP	0.998	T	T	123301134	A	T	123301134	2	4	127	1	0	0	0	0	0	0	0	1	12820	407	15	5		5	PTPLB	3	123301134	Silent	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	10942540	123301134	74721296	53	32774											
PLXND1	23129	genome.wustl.edu	37	chr3	129304794	129304794	+	Splice_Site	SNP	C	C	G	0	0	0	1	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	cttgcctcccccaggactcaCtgggtactcctggcgcacat	6	9	9	17	1	1	0	1	0	0	0	3	1	3	1	4	3	2	2	4	3	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:129304794C>G	ENST00000324093.4	-	5	2030		c.e5+1		PLXND1_ENST00000393239.1_Splice_Site	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1						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						CCAGGACTCACTGGGTACTCC	0.672																																					Ovarian(97;366 1484 3738 22084 39045)												0													105	113	110					3																	129304794		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1851+1G>C	3.37:g.129304794C>G			A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Splice_Site	SNP	-	e5+1	ENST00000324093.4	37	c.1851+1	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596326	0.28445	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4084	0.74900	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLXND1	130787484	0.995000	0.38212	0.966000	0.40874	0.141000	0.21300	4.243000	0.58721	2.317000	0.78254	0.561000	0.74099	.	PLXND1	-	-	ENSG00000004399		0.672	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	-	0	116	0	C	NM_015103	Intron	129304794	-1	tier1	-	no_errors	ENST00000324093	ensembl	human	known	74_37	splice_site	15.91	148	28	SNP	0.994	G	G	129304794	C	G	129304794	5	3	127	1	0	0	0	0	0	0	1	0	12166	579	20	5	4053	5	PLXND1	3	129304794	Splice_Site	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	6003660	129304794	68717636	54	32775											
RYK	6259	genome.wustl.edu	37	chr3	133913932	133913932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattaactcttactggtgaTaggagttgcattgttgggcg	10	14	12	5	1	1	1	0	1	1	0	1	2	1	2	0	3	3	3	0	3	4	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:133913932T>C	ENST00000427044.2	-	8	917	c.307A>G	c.(307-309)Atc>Gtc	p.I103V	RYK_ENST00000296084.4_Missense_Mutation_p.I293V			P34925	RYK_HUMAN	receptor-like tyrosine kinase	292	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						TTACTGGTGATAGGAGTTGCA	0.468																																																	0													112	110	110					3																	133913932		1959	4142	6101	SO:0001583	missense	0			S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.307A>G	3.37:g.133913932T>C	ENSP00000399527:p.Ile103Val		Q04696	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I103V	ENST00000427044.2	37	c.307		3	.	.	.	.	.	.	.	.	.	.	T	4.164	0.029016	0.08054	.	.	ENSG00000163785	ENST00000296084;ENST00000427044	T;T	0.76839	2.01;-1.05	5.63	1.5	0.22942	.	0.166402	0.52532	N	0.000065	T	0.49389	0.1554	N	0.04508	-0.205	0.35919	D	0.831674	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38178	-0.9673	10	0.11485	T	0.65	-1.9831	7.6605	0.28400	0.0:0.4159:0.0:0.5841	.	292;292	P34925;P34925-2	RYK_HUMAN;.	V	293;103	ENSP00000296084:I293V;ENSP00000399527:I103V	ENSP00000296084:I293V	I	-	1	0	RYK	135396622	0.962000	0.33011	0.998000	0.56505	0.995000	0.86356	1.955000	0.40372	0.464000	0.27142	0.460000	0.39030	ATC	RYK	-	NULL	ENSG00000163785		0.468	RYK-202	KNOWN	basic|appris_principal	protein_coding	RYK	HGNC	protein_coding		-	0	43	0	T	NM_001005861		133913932	-1	tier1	-	no_errors	ENST00000427044	ensembl	human	known	74_37	missense	20.78	61	16	SNP	0.970	C	C	133913932	T	C	133913932	3	2	127	1	0	0	0	0	1	0	0	0	13812	1406	49	4	985	4	RYK	3	133913932	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	4609138	133913932	64108498	55	32776											
FAIM	55179	genome.wustl.edu	37	chr3	138341108	138341108	+	Missense_Mutation	SNP	A	A	G	1	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	gagctgcaaagacaaaagcgAccataaatatagacgctatc	18	6	8	9	2	0	2	0	0	0	2	1	4	0	2	1	0	3	3	1	0	8	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:138341108A>G	ENST00000393035.2	+	3	299	c.190A>G	c.(190-192)Acc>Gcc	p.T64A	FAIM_ENST00000464668.1_Missense_Mutation_p.T64A|FAIM_ENST00000360570.3_Missense_Mutation_p.T86A|FAIM_ENST00000338446.4_Missense_Mutation_p.T98A|FAIM_ENST00000393034.2_Missense_Mutation_p.T64A	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	64					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						GACAAAAGCGACCATAAATAT	0.343																																																	0													85	87	86					3																	138341108		2203	4300	6503	SO:0001583	missense	0			AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.190A>G	3.37:g.138341108A>G	ENSP00000376755:p.Thr64Ala		Q6IAN2	Missense_Mutation	SNP	pfam_FAIM	p.T98A	ENST00000393035.2	37	c.292	CCDS3103.1	3	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217804	0.39201	.	.	ENSG00000158234	ENST00000338446;ENST00000360570;ENST00000393035;ENST00000393034;ENST00000464668;ENST00000479848	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	6.02	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	L	0.61218	1.895	0.58432	D	0.999998	B;B;B;B	0.10296	0.001;0.003;0.003;0.001	B;B;B;B	0.16289	0.003;0.009;0.009;0.015	T	0.06991	-1.0796	10	0.10902	T	0.67	-11.8255	10.3934	0.44185	0.8535:0.0:0.0:0.1465	.	64;86;98;64	Q9NVQ4;Q9NVQ4-3;Q9NVQ4-2;C9JDZ2	FAIM1_HUMAN;.;.;.	A	98;86;64;64;64;64	ENSP00000342805:T98A;ENSP00000353775:T86A;ENSP00000376755:T64A;ENSP00000376754:T64A;ENSP00000417642:T64A;ENSP00000420543:T64A	ENSP00000342805:T98A	T	+	1	0	FAIM	139823798	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	5.183000	0.65065	2.299000	0.77371	0.528000	0.53228	ACC	FAIM	-	pfam_FAIM	ENSG00000158234		0.343	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAIM	HGNC	protein_coding	OTTHUMT00000357979.1	-	0	134	0	A	NM_001033032		138341108	1	tier1	-	no_errors	ENST00000338446	ensembl	human	known	74_37	missense	39.82	132	88	SNP	1.000	G	G	138341108	A	G	138341108	3	3	127	1	0	0	0	0	1	0	0	0	5394	275	10	4	350	4	FAIM	3	138341108	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	4427176	138341108	59681322	56	32777											
ACPL2	92370	genome.wustl.edu	37	chr3	141006278	141006278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcacccattgtgtgagatggGagagctcacacagacaggta	12	8	12	9	0	2	3	2	1	0	3	2	5	2	3	1	2	1	2	1	2	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:141006278G>A	ENST00000286353.4	+	5	625	c.488G>A	c.(487-489)gGa>gAa	p.G163E	ACPL2_ENST00000502783.1_Missense_Mutation_p.G125E|ACPL2_ENST00000504264.1_Missense_Mutation_p.G146E|ACPL2_ENST00000393007.1_Missense_Mutation_p.G147E|ACPL2_ENST00000393010.2_Missense_Mutation_p.G163E|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000508812.1_Missense_Mutation_p.G154E	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		163						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TGTGAGATGGGAGAGCTCACA	0.547																																																	0													111	107	109					3																	141006278		2203	4300	6503	SO:0001583	missense	0																														ENST00000286353.4:c.488G>A	3.37:g.141006278G>A	ENSP00000286353:p.Gly163Glu		D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.G163E	ENST00000286353.4	37	c.488	CCDS3116.1	3	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814459	0.90790	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000512457;ENST00000504264;ENST00000508812;ENST00000393007	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.90397	0.6994	M	0.89287	3.02	0.80722	D	1	D;P	0.58268	0.982;0.827	P;B	0.53809	0.735;0.42	D	0.91868	0.5505	10	0.72032	D	0.01	.	17.4922	0.87707	0.0:0.0:1.0:0.0	.	146;163	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	E	163;125;163;125;146;154;147	ENSP00000286353:G163E;ENSP00000422558:G125E;ENSP00000376733:G163E;ENSP00000423702:G125E;ENSP00000426877:G146E;ENSP00000422901:G154E;ENSP00000376731:G147E	ENSP00000286353:G163E	G	+	2	0	ACPL2	142488968	1.000000	0.71417	0.976000	0.42696	0.736000	0.42039	9.771000	0.98977	2.724000	0.93272	0.561000	0.74099	GGA	ACPL2	-	pfam_His_Pase_superF_clade-2	ENSG00000155893		0.547	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	HGNC	protein_coding	OTTHUMT00000359533.2	-	0	36	0	G			141006278	1	tier1	-	no_errors	ENST00000286353	ensembl	human	known	74_37	missense	17.78	37	8	SNP	1.000	A	A	141006278	G	A	141006278	3	1	127	1	0	0	0	0	1	0	0	0	166	1174	41	3	502	3	ACPL2	3	141006278	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	2665170	141006278	57016152	57	32778											
SLC9A9	285195	genome.wustl.edu	37	chr3	143551002	143551002	+	Silent	SNP	A	A	C	1	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	agttttacacagtcatagacAgttccactttcaatatcagt	13	14	5	9	0	3	1	3	0	0	1	4	1	4	1	1	0	1	2	1	0	4	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:143551002A>C	ENST00000316549.6	-	2	445	c.237T>G	c.(235-237)acT>acG	p.T79T		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	79					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGTCATAGACAGTTCCACTTT	0.338																																																	0													149	146	147					3																	143551002		2203	4300	6503	SO:0001819	synonymous_variant	0			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.237T>G	3.37:g.143551002A>C			A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.T79	ENST00000316549.6	37	c.237	CCDS33872.1	3																																																																																			SLC9A9	-	pfam_Cation/H_exchanger	ENSG00000181804		0.338	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	-	0	47	0	A	NM_173653		143551002	-1	tier1	-	no_errors	ENST00000316549	ensembl	human	known	74_37	silent	10.87	82	10	SNP	0.999	C	C	143551002	A	C	143551002	2	2	127	1	0	0	0	0	0	0	0	1	14766	175	7	4		4	SLC9A9	3	143551002	Silent	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	2544724	143551002	54471428	58	32779											
ZIC4	84107	genome.wustl.edu	37	chr3	147120593	147120593	+	5'UTR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtatctcattttctgacTttgagcctgtttgggaagaa	8	17	9	7	0	2	3	1	2	2	1	3	4	2	4	1	1	1	2	1	1	3	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:147120593T>C	ENST00000383075.3	-	0	504				ZIC4_ENST00000491672.1_5'UTR|ZIC4_ENST00000525172.2_Missense_Mutation_p.S48G|ZIC4_ENST00000484399.1_5'UTR|ZIC4_ENST00000473123.1_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.S36G	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ATTTTCTGACTTTGAGCCTGT	0.383																																																	0													139	127	131					3																	147120593		1891	4108	5999	SO:0001623	5_prime_UTR_variant	0			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.-9A>G	3.37:g.147120593T>C			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S48G	ENST00000383075.3	37	c.142	CCDS43160.1	3	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891362	0.52014	.	.	ENSG00000174963	ENST00000425731;ENST00000525172	T;T	0.12039	2.8;2.72	6.06	2.09	0.27110	.	.	.	.	.	T	0.07683	0.0193	N	0.14661	0.345	0.80722	D	1	B	0.12630	0.006	B	0.15870	0.014	T	0.26258	-1.0108	9	0.39692	T	0.17	.	7.8513	0.29457	0.0:0.067:0.2584:0.6746	.	48	B7Z2L2	.	G	36;48	ENSP00000397695:S36G;ENSP00000435509:S48G	ENSP00000397695:S36G	S	-	1	0	ZIC4	148603283	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	1.253000	0.32886	0.106000	0.17784	0.533000	0.62120	AGT	ZIC4	-	NULL	ENSG00000174963		0.383	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1	-	0	79	0	T			147120593	-1	tier1	-	no_errors	ENST00000525172	ensembl	human	known	74_37	missense	5.92	159	10	SNP	0.997	C	C	147120593	T	C	147120593	1	2	127	0	1	0	0	0	0	0	0	0	17729	1609	56	4		4	ZIC4	3	147120593	5'UTR	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	3569591	147120593	50901837	59	32780											
FXR1	8087	genome.wustl.edu	37	chr3	180666281	180666281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgaggatttgagagaGgcgtgagtaattttatatac	11	14	12	4	1	0	4	0	3	0	1	1	6	1	5	1	2	1	2	1	2	4	7			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:180666281G>T	ENST00000357559.4	+	5	801	c.417G>T	c.(415-417)gaG>gaT	p.E139D	FXR1_ENST00000445140.2_Missense_Mutation_p.E139D|FXR1_ENST00000491062.1_Missense_Mutation_p.E90D|FXR1_ENST00000468861.1_Missense_Mutation_p.E54D|FXR1_ENST00000480918.1_Missense_Mutation_p.E126D|FXR1_ENST00000305586.7_Missense_Mutation_p.E54D	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	139					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)			ATTTGAGAGAGGCGTGAGTAA	0.343																																																	0													57	60	59					3																	180666281		2194	4296	6490	SO:0001583	missense	0			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.417G>T	3.37:g.180666281G>T	ENSP00000350170:p.Glu139Asp		A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1	p.E139D	ENST00000357559.4	37	c.417	CCDS3238.1	3	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770751	0.31320	.	.	ENSG00000114416	ENST00000469882;ENST00000484790;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918;ENST00000484042	T;T;T;T;T;T;T;T;T;T;T	0.50277	0.82;0.75;0.8;1.85;1.66;1.19;1.17;1.2;0.83;1.69;0.8	5.98	4.89	0.63831	.	0.152638	0.64402	D	0.000018	T	0.30759	0.0775	L	0.31207	0.915	0.43564	D	0.99588	B;B;B;B;B;B	0.13594	0.0;0.001;0.004;0.001;0.008;0.0	B;B;B;B;B;B	0.19666	0.002;0.004;0.012;0.002;0.026;0.001	T	0.23619	-1.0183	10	0.41790	T	0.15	-28.2355	2.0195	0.03505	0.1979:0.1347:0.51:0.1574	.	126;90;54;54;139;139	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	D	54;54;54;139;54;90;54;139;54;126;143	ENSP00000419793:E54D;ENSP00000417125:E54D;ENSP00000418724:E54D;ENSP00000350170:E139D;ENSP00000307633:E54D;ENSP00000420643:E90D;ENSP00000420515:E54D;ENSP00000388828:E139D;ENSP00000419933:E54D;ENSP00000418097:E126D;ENSP00000417513:E143D	ENSP00000307633:E54D	E	+	3	2	FXR1	182148975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.300000	0.33436	1.189000	0.43028	0.650000	0.86243	GAG	FXR1	-	NULL	ENSG00000114416		0.343	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5		0	23	0	G			180666281	1			no_errors	ENST00000357559	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	180666281	G	T	180666281	3	4	127	1	0	0	0	0	1	0	0	0	6139	991	35	3	435	3	FXR1	3	180666281	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	33545688	180666281	17356149	60	32781											
LIPH	200879	genome.wustl.edu	37	chr3	185245348	185245348	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttggtgaggtttcccgttGaataaagggcctgcagggtc	7	12	14	8	1	1	2	0	2	1	0	3	2	2	2	2	4	1	3	2	4	3	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr3:185245348G>C	ENST00000296252.4	-	4	693	c.552C>G	c.(550-552)ttC>ttG	p.F184L	LIPH_ENST00000424591.2_Intron	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	184			Missing (in HYPT7). {ECO:0000269|PubMed:17095700}.		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)			GTTTCCCGTTGAATAAAGGGC	0.532																																																	0													211	179	190					3																	185245348		2203	4300	6503	SO:0001583	missense	0			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.552C>G	3.37:g.185245348G>C	ENSP00000296252:p.Phe184Leu		A2IBA7|Q8TEC7	Missense_Mutation	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.F184L	ENST00000296252.4	37	c.552	CCDS3272.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616515	0.87359	.	.	ENSG00000163898	ENST00000296252	D	0.91945	-2.94	5.8	4.92	0.64577	Lipase, N-terminal (1);	0.094778	0.64402	D	0.000001	D	0.96750	0.8939	H	0.95437	3.67	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.96833	0.9612	10	0.87932	D	0	-20.6908	10.6695	0.45749	0.1465:0.0:0.8535:0.0	.	184	Q8WWY8	LIPH_HUMAN	L	184	ENSP00000296252:F184L	ENSP00000296252:F184L	F	-	3	2	LIPH	186728042	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.672000	0.54583	2.741000	0.93983	0.561000	0.74099	TTC	LIPH	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000163898		0.532	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	-	0	85	0	G			185245348	-1	tier1	-	no_errors	ENST00000296252	ensembl	human	known	74_37	missense	70.80	33	80	SNP	1.000	C	C	185245348	G	C	185245348	3	2	127	1	0	0	0	0	1	0	0	0	8854	1281	45	5	831	5	LIPH	3	185245348	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	4579067	185245348	12777082	61	32782											
REST	5978	genome.wustl.edu	37	chr4	57796960	57796960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggagggtgcccagatacggCctgctcctgacgagcctgtt	6	9	14	12	2	0	2	0	1	0	1	1	4	1	3	4	3	4	2	4	3	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr4:57796960C>T	ENST00000309042.7	+	4	2250	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	646	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CCAGATACGGCCTGCTCCTGA	0.652																																																	0													31	34	33					4																	57796960		2203	4300	6503	SO:0001583	missense	0			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.1936C>T	4.37:g.57796960C>T	ENSP00000311816:p.Pro646Ser		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P646S	ENST00000309042.7	37	c.1936	CCDS3509.1	4	.	.	.	.	.	.	.	.	.	.	C	8.742	0.919132	0.17982	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.07216	3.21	2.43	-0.433	0.12287	.	.	.	.	.	T	0.04588	0.0125	N	0.19112	0.55	0.09310	N	1	B;B	0.20550	0.035;0.046	B;B	0.14023	0.01;0.007	T	0.42565	-0.9444	9	0.31617	T	0.26	5.9724	4.2539	0.10708	0.0:0.5532:0.1929:0.2539	.	623;646	F8WAN5;Q13127	.;REST_HUMAN	S	646;623	ENSP00000311816:P646S	ENSP00000311816:P646S	P	+	1	0	REST	57491717	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.218000	0.17622	-0.146000	0.11274	-0.258000	0.10820	CCT	REST	-	NULL	ENSG00000084093		0.652	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REST	HGNC	protein_coding	OTTHUMT00000250691.2		0	48	0	C	NM_005612		57796960	1			no_errors	ENST00000309042	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.015	T	T	57796960	C	T	57796960	3	4	127	1	0	0	0	0	1	0	0	0	13279	739	26	3	1946	3	REST	4	57796960	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09		57796960	133357316	62	32783											
UGT2B4	7363	genome.wustl.edu	37	chr4	70351133	70351133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgagttataaaagctctgGtttttgggtgacctaggatt	10	15	11	5	0	1	2	0	2	1	0	1	3	1	3	1	3	1	3	1	3	4	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr4:70351133G>T	ENST00000305107.6	-	5	1149	c.1103C>A	c.(1102-1104)aCc>aAc	p.T368N	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.T232N	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	368					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)	AAAAGCTCTGGTTTTTGGGTG	0.403																																																	0													104	109	107					4																	70351133		2203	4297	6500	SO:0001583	missense	0			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.1103C>A	4.37:g.70351133G>T	ENSP00000305221:p.Thr368Asn		A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T368N	ENST00000305107.6	37	c.1103	CCDS43234.1	4	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854028	0.32791	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.64618	-0.11;3.07	1.96	1.07	0.20283	.	0.072167	0.53938	U	0.000054	D	0.82346	0.5017	H	0.96943	3.91	0.28944	N	0.890806	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.74996	-0.3473	10	0.66056	D	0.02	.	7.5777	0.27946	0.0:0.0:0.7439:0.2561	.	232;368	A6NCP7;P06133	.;UD2B4_HUMAN	N	368;232	ENSP00000305221:T368N;ENSP00000370486:T232N	ENSP00000305221:T368N	T	-	2	0	UGT2B4	70385722	1.000000	0.71417	0.993000	0.49108	0.154000	0.21943	6.829000	0.75314	0.382000	0.24878	0.305000	0.20034	ACC	UGT2B4	-	pfam_UDP_glucos_trans	ENSG00000156096		0.403	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B4	HGNC	protein_coding	OTTHUMT00000365526.1	-	0	155	0	G	NM_021139		70351133	-1	tier1	-	no_errors	ENST00000305107	ensembl	human	known	74_37	missense	6.75	152	11	SNP	1.000	T	T	70351133	G	T	70351133	3	4	127	1	0	0	0	0	1	0	0	0	17010	1261	44	3	491	3	UGT2B4	4	70351133	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	12554173	70351133	120803143	63	32784											
CSN2	1447	genome.wustl.edu	37	chr4	70823225	70823225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggacctgctgcatcaaggGctggagcagaggcagaggaa	12	4	17	8	0	1	2	1	0	0	2	1	5	1	5	1	5	3	5	1	5	2	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr4:70823225G>T	ENST00000353151.3	-	5	453	c.442C>A	c.(442-444)Ccc>Acc	p.P148T		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					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)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TGCATCAAGGGCTGGAGCAGA	0.522																																																	0													81	87	85					4																	70823225		2203	4300	6503	SO:0001583	missense	0			X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.442C>A	4.37:g.70823225G>T	ENSP00000341030:p.Pro148Thr		O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	pfam_Casein,pirsf_Casein_beta	p.P148T	ENST00000353151.3	37	c.442	CCDS3532.1	4	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912280	0.52439	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.59	-0.149	0.13420	.	0.751830	0.11934	N	0.515442	T	0.41719	0.1171	L	0.50333	1.59	0.09310	N	0.999999	P	0.44139	0.827	P	0.47827	0.558	T	0.33214	-0.9877	9	0.87932	D	0	-25.3033	7.288	0.26350	0.5318:0.0:0.4682:0.0	.	148	P05814	CASB_HUMAN	T	148	.	ENSP00000341030:P148T	P	-	1	0	CSN2	70857814	0.312000	0.24545	0.085000	0.20634	0.457000	0.32468	0.221000	0.17680	-0.072000	0.12864	-0.142000	0.14014	CCC	CSN2	-	pfam_Casein,pirsf_Casein_beta	ENSG00000135222		0.522	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSN2	HGNC	protein_coding	OTTHUMT00000251565.1	-	0	67	0	G			70823225	-1	tier1	-	no_errors	ENST00000353151	ensembl	human	known	74_37	missense	26.76	52	19	SNP	0.084	T	T	70823225	G	T	70823225	3	4	127	1	0	0	0	0	1	0	0	0	3957	1203	42	3	246	3	CSN2	4	70823225	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	472092	70823225	120331051	64	32785											
SHROOM3	57619	genome.wustl.edu	37	chr4	77661903	77661903	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaagttggaagaggcttcCcggcagccctgcggtcagca	8	7	14	12	2	1	2	1	1	0	1	2	3	2	3	2	4	3	4	2	4	2	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr4:77661903C>G	ENST00000296043.6	+	5	3530	c.2577C>G	c.(2575-2577)tcC>tcG	p.S859S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	859					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)			AAGAGGCTTCCCGGCAGCCCT	0.632																																																	0													31	36	35					4																	77661903		2201	4295	6496	SO:0001819	synonymous_variant	0			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.2577C>G	4.37:g.77661903C>G			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S859	ENST00000296043.6	37	c.2577	CCDS3579.2	4																																																																																			SHROOM3	-	NULL	ENSG00000138771		0.632	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	-	0	48	0	C	NM_020859		77661903	1	tier1	-	no_errors	ENST00000296043	ensembl	human	known	74_37	silent	34.55	36	19	SNP	0.000	G	G	77661903	C	G	77661903	2	3	127	1	0	0	0	0	0	0	0	1	14340	610	22	5		5	SHROOM3	4	77661903	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	6838678	77661903	113492373	65	32786											
NAA15	80155	genome.wustl.edu	37	chr4	140282928	140282928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactttcatacatactgtatGaggaagattacccttagatc	13	13	7	8	0	1	3	1	1	0	2	2	5	1	4	1	1	3	1	1	1	6	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr4:140282928G>C	ENST00000296543.5	+	14	1913	c.1590G>C	c.(1588-1590)atG>atC	p.M530I	NAA15_ENST00000398947.1_Missense_Mutation_p.M530I	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	530	Interaction with HYPK.				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						CATACTGTATGAGGAAGATTA	0.328																																																	0													65	60	62					4																	140282928		1840	4080	5920	SO:0001583	missense	0			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.1590G>C	4.37:g.140282928G>C	ENSP00000296543:p.Met530Ile		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.M530I	ENST00000296543.5	37	c.1590	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618124	0.87359	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.41758	0.99;0.99	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	L	0.55213	1.73	0.80722	D	1	P	0.38223	0.623	B	0.42882	0.401	T	0.26326	-1.0106	10	0.33940	T	0.23	-16.9726	20.547	0.99278	0.0:0.0:1.0:0.0	.	530	Q9BXJ9	NAA15_HUMAN	I	530;404;530	ENSP00000296543:M530I;ENSP00000381920:M530I	ENSP00000296543:M530I	M	+	3	0	NAA15	140502378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.850000	0.98022	0.650000	0.86243	ATG	NAA15	-	pirsf_NatA_aux_su	ENSG00000164134		0.328	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	-	0	69	0	G	NM_057175		140282928	1	tier1	-	no_errors	ENST00000296543	ensembl	human	known	74_37	missense	36.56	59	34	SNP	1.000	C	C	140282928	G	C	140282928	3	2	127	1	0	0	0	0	1	0	0	0	10156	1290	45	5	1644	5	NAA15	4	140282928	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	62621025	140282928	50871348	66	32787											
LRBA	987	genome.wustl.edu	37	chr4	151357951	151357951	+	Missense_Mutation	SNP	A	A	T	1	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	tgaaactttggaacttgatcAtcttcccatgattcataacg	12	14	6	9	1	3	3	2	3	1	0	4	4	4	4	1	1	3	0	1	1	3	5	rs138518902		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr4:151357951A>T	ENST00000357115.3	-	46	7122	c.6879T>A	c.(6877-6879)gaT>gaA	p.D2293E	LRBA_ENST00000535741.1_Missense_Mutation_p.D2282E|LRBA_ENST00000510413.1_Missense_Mutation_p.D2282E|LRBA_ENST00000507224.1_Missense_Mutation_p.D2282E|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2293	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GAACTTGATCATCTTCCCATG	0.393																																																	0								A	GLU/ASP,GLU/ASP	1,4405	2.1+/-5.4	0,1,2202	97	85	89		6879,6879	-2.5	1	4	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense	LRBA	NM_001199282.2,NM_006726.4	45,45	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2293/2864,2293/2864	151357951	1,13005	2203	4300	6503	SO:0001583	missense	0			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.6879T>A	4.37:g.151357951A>T	ENSP00000349629:p.Asp2293Glu		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.D2293E	ENST00000357115.3	37	c.6879	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.93|15.93	2.977662|2.977662	0.53720|0.53720	2.27E-4|2.27E-4	0.0|0.0	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.63096|.	-0.02;-0.02;-0.02;-0.02|.	5.93|5.93	-2.53|-2.53	0.06326|0.06326	BEACH domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51312|0.51312	0.1667|0.1667	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	P;B;B|.	0.40282|.	0.711;0.004;0.002|.	B;B;B|.	0.37508|.	0.252;0.015;0.006|.	T|T	0.42865|0.42865	-0.9426|-0.9426	10|5	0.56958|.	D|.	0.05|.	.|.	13.2165|13.2165	0.59863|0.59863	0.6591:0.0:0.3409:0.0|0.6591:0.0:0.3409:0.0	.|.	2293;2282;183|.	P50851;P50851-2;Q68D03|.	LRBA_HUMAN;.;.|.	E|K	2282;2282;2293;2282|935	ENSP00000446299:D2282E;ENSP00000421552:D2282E;ENSP00000349629:D2293E;ENSP00000422180:D2282E|.	ENSP00000349629:D2293E|.	D|M	-|-	3|2	2|0	LRBA|LRBA	151577401|151577401	0.997000|0.997000	0.39634|0.39634	0.974000|0.974000	0.42286|0.42286	0.873000|0.873000	0.50193|0.50193	0.788000|0.788000	0.26872|0.26872	-0.644000|-0.644000	0.05465|0.05465	-2.021000|-2.021000	0.00431|0.00431	GAT|ATG	LRBA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000198589		0.393	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0	52	0	A			151357951	-1	tier1	rs138518902	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	20.29	55	14	SNP	0.940	T	T	151357951	A	T	151357951	3	4	127	1	0	0	0	0	1	0	0	0	8966	214	8	5	1764	5	LRBA	4	151357951	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	11075023	151357951	39796325	67	32788											
GRIA2	2891	genome.wustl.edu	37	chr4	158256846	158256846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccgtatgttatgatgaaGaaaaatcatgaaatgcttga	15	13	8	5	1	2	5	1	4	1	1	3	5	2	5	1	0	1	3	1	0	6	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr4:158256846G>C	ENST00000264426.9	+	10	1569	c.1290G>C	c.(1288-1290)aaG>aaC	p.K430N	GRIA2_ENST00000449365.1_Missense_Mutation_p.K383N|GRIA2_ENST00000507898.1_Missense_Mutation_p.K383N|GRIA2_ENST00000393815.2_Missense_Mutation_p.K383N|GRIA2_ENST00000296526.7_Missense_Mutation_p.K430N	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	430					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)	TTATGATGAAGAAAAATCATG	0.373																																																	0													100	91	94					4																	158256846		2203	4300	6503	SO:0001583	missense	0				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.1290G>C	4.37:g.158256846G>C	ENSP00000264426:p.Lys430Asn		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K430N	ENST00000264426.9	37	c.1290	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476252	0.63737	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.86	4.94	0.65067	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.88551	0.6467	M	0.82517	2.595	0.80722	D	1	B;D;D	0.89917	0.285;1.0;0.997	B;D;D	0.91635	0.191;0.999;0.994	D	0.90276	0.4311	10	0.87932	D	0	.	14.8816	0.70537	0.0735:0.0:0.9265:0.0	.	430;430;383	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	N	383;383;430;430;383	ENSP00000426845:K383N;ENSP00000377403:K383N;ENSP00000296526:K430N;ENSP00000264426:K430N;ENSP00000389837:K383N	ENSP00000264426:K430N	K	+	3	2	GRIA2	158476296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.665000	0.61547	1.460000	0.47911	0.650000	0.86243	AAG	GRIA2	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000120251		0.373	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	-	0	63	0	G			158256846	1	tier1	-	no_errors	ENST00000264426	ensembl	human	known	74_37	missense	39.80	59	39	SNP	1.000	C	C	158256846	G	C	158256846	3	2	127	1	0	0	0	0	1	0	0	0	6795	933	33	5	1328	5	GRIA2	4	158256846	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	6898895	158256846	32897430	68	32789											
RXFP1	59350	genome.wustl.edu	37	chr4	159493861	159493861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcctcagtttctcatgggGgtggacaggatgtcaagtgc	7	13	13	8	0	3	0	3	0	1	0	5	2	4	2	1	4	1	1	1	4	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr4:159493861G>A	ENST00000307765.5	+	2	312	c.61G>A	c.(61-63)Ggt>Agt	p.G21S	RXFP1_ENST00000343542.5_Missense_Mutation_p.G21S|RXFP1_ENST00000470033.1_Missense_Mutation_p.G21S|RXFP1_ENST00000460056.2_De_novo_Start_OutOfFrame|RXFP1_ENST00000423548.1_Missense_Mutation_p.G21S|RXFP1_ENST00000448688.2_De_novo_Start_OutOfFrame	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	21					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TTCTCATGGGGGTGGACAGGA	0.488																																																	0													141	140	140					4																	159493861		1982	4160	6142	SO:0001583	missense	0			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.61G>A	4.37:g.159493861G>A	ENSP00000303248:p.Gly21Ser		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.G21S	ENST00000307765.5	37	c.61	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	G	8.554	0.876142	0.17395	.	.	ENSG00000171509	ENST00000307765;ENST00000423548;ENST00000343542;ENST00000470033	T;T;T;T	0.68331	-0.27;-0.23;-0.32;-0.25	4.85	-0.396	0.12427	.	1.111290	0.06862	N	0.799366	T	0.23727	0.0574	N	0.00554	-1.385	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.34004	-0.9846	10	0.02654	T	1	.	1.2119	0.01906	0.4493:0.1455:0.2638:0.1414	.	21;21;21;21	B4DGP2;Q9HBX9-4;Q9HBX9-2;Q9HBX9	.;.;.;RXFP1_HUMAN	S	21	ENSP00000303248:G21S;ENSP00000405841:G21S;ENSP00000345889:G21S;ENSP00000420712:G21S	ENSP00000303248:G21S	G	+	1	0	RXFP1	159713311	0.329000	0.24696	0.000000	0.03702	0.332000	0.28634	0.609000	0.24238	-0.063000	0.13065	-0.471000	0.05019	GGT	RXFP1	-	NULL	ENSG00000171509		0.488	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	-	0	70	0	G	NM_021634		159493861	1	tier1	-	no_errors	ENST00000307765	ensembl	human	known	74_37	missense	26.92	76	28	SNP	0.000	A	A	159493861	G	A	159493861	3	1	127	1	0	0	0	0	1	0	0	0	13804	1232	43	3	67	3	RXFP1	4	159493861	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	1237015	159493861	31660415	69	32790											
RXFP1	59350	genome.wustl.edu	37	chr4	159569710	159569710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggaagcatgttttatagtGttcatcaaagtgccataaca	14	13	8	6	0	2	0	2	0	0	0	2	1	2	1	1	1	3	3	1	1	5	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr4:159569710G>T	ENST00000307765.5	+	17	2067	c.1816G>T	c.(1816-1818)Gtt>Ttt	p.V606F	RXFP1_ENST00000343542.5_Missense_Mutation_p.V558F|RXFP1_ENST00000470033.1_Missense_Mutation_p.V573F|RXFP1_ENST00000460056.2_Missense_Mutation_p.V525F|RXFP1_ENST00000448688.2_Missense_Mutation_p.V501F	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	606					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GTTTTATAGTGTTCATCAAAG	0.299																																																	0													106	99	101					4																	159569710		1824	4075	5899	SO:0001583	missense	0			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.1816G>T	4.37:g.159569710G>T	ENSP00000303248:p.Val606Phe		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.V606F	ENST00000307765.5	37	c.1816	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879168	0.51801	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.79	0.584	0.17422	GPCR, rhodopsin-like superfamily (1);	0.242184	0.42420	D	0.000715	T	0.52853	0.1760	M	0.63843	1.955	0.43430	D	0.99559	P;P;P;B;P;B;P;P	0.50528	0.936;0.936;0.544;0.133;0.682;0.134;0.851;0.911	P;P;P;B;B;B;P;P	0.59889	0.836;0.865;0.493;0.138;0.361;0.217;0.756;0.853	T	0.50857	-0.8778	10	0.72032	D	0.01	.	10.2176	0.43177	0.5586:0.0:0.4414:0.0	.	617;633;501;558;573;525;476;606	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	F	525;606;501;558;573;476	ENSP00000423306:V525F;ENSP00000303248:V606F;ENSP00000414885:V501F;ENSP00000345889:V558F;ENSP00000420712:V573F	ENSP00000303248:V606F	V	+	1	0	RXFP1	159789160	0.782000	0.28689	0.823000	0.32752	0.988000	0.76386	0.804000	0.27098	-0.229000	0.09854	-0.136000	0.14681	GTT	RXFP1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171509		0.299	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	-	0	43	0	G	NM_021634		159569710	1	tier1	-	no_errors	ENST00000307765	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.951	T	T	159569710	G	T	159569710	3	4	127	1	0	0	0	0	1	0	0	0	13804	1377	48	3	1882	3	RXFP1	4	159569710	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	75849	159569710	31584566	70	32791											
ADAM29	11086	genome.wustl.edu	37	chr4	175897785	175897785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactaaatttagcaattgtaGttatggtgatttttgggaat	13	17	9	2	0	0	1	0	1	0	0	0	2	0	2	0	2	2	3	0	2	8	8			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr4:175897785G>T	ENST00000359240.3	+	5	1779	c.1109G>T	c.(1108-1110)aGt>aTt	p.S370I	ADAM29_ENST00000514159.1_Missense_Mutation_p.S370I|ADAM29_ENST00000445694.1_Missense_Mutation_p.S370I|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.S370I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	370	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)		AGCAATTGTAGTTATGGTGAT	0.388																																					Ovarian(140;1727 1835 21805 25838 41440)												0													125	125	125					4																	175897785		2203	4300	6503	SO:0001583	missense	0			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.1109G>T	4.37:g.175897785G>T	ENSP00000352177:p.Ser370Ile		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.S370I	ENST00000359240.3	37	c.1109	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633421	0.47049	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	3.6	2.72	0.32119	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.37136	U	0.002221	T	0.63943	0.2554	H	0.95224	3.64	0.22213	N	0.999282	D	0.89917	1.0	D	0.87578	0.998	T	0.60156	-0.7318	9	.	.	.	.	10.9848	0.47516	0.0:0.192:0.808:0.0	.	370	Q9UKF5	ADA29_HUMAN	I	370	ENSP00000352177:S370I;ENSP00000414544:S370I;ENSP00000384229:S370I;ENSP00000423517:S370I	.	S	+	2	0	ADAM29	176134360	1.000000	0.71417	0.102000	0.21198	0.004000	0.04260	4.823000	0.62694	1.044000	0.40200	0.579000	0.79373	AGT	ADAM29	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000168594		0.388	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		-	0	39	0	G			175897785	1	tier1	-	no_errors	ENST00000359240	ensembl	human	known	74_37	missense	12.90	54	8	SNP	0.528	T	T	175897785	G	T	175897785	3	4	127	1	0	0	0	0	1	0	0	0	247	1029	36	3	1111	3	ADAM29	4	175897785	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	16328075	175897785	15256491	71	32792											
TRIML1	339976	genome.wustl.edu	37	chr4	189063453	189063453	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgtgtcagaatacatgaaAatgcaccagttcctgaagga	14	10	10	7	0	1	3	1	2	0	1	2	4	2	4	2	1	2	3	2	1	5	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr4:189063453A>T	ENST00000332517.3	+	3	692	c.552A>T	c.(550-552)aaA>aaT	p.K184N	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	184					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AATACATGAAAATGCACCAGT	0.438																																					Melanoma(31;213 1036 16579 23968 32372)												0													79	75	76					4																	189063453		2203	4300	6503	SO:0001583	missense	0			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.552A>T	4.37:g.189063453A>T	ENSP00000327738:p.Lys184Asn		Q96BE5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.K184N	ENST00000332517.3	37	c.552	CCDS3851.1	4	.	.	.	.	.	.	.	.	.	.	A	18.55	3.647669	0.67358	.	.	ENSG00000184108	ENST00000332517	T	0.09445	2.98	4.74	0.461	0.16689	.	0.000000	0.50627	D	0.000120	T	0.26085	0.0636	M	0.73430	2.235	0.30033	N	0.813317	D	0.76494	0.999	D	0.76071	0.987	T	0.04811	-1.0925	10	0.51188	T	0.08	-36.0948	7.785	0.29087	0.5882:0.0:0.4118:0.0	.	184	Q8N9V2	TRIML_HUMAN	N	184	ENSP00000327738:K184N	ENSP00000327738:K184N	K	+	3	2	TRIML1	189300447	0.068000	0.21057	0.998000	0.56505	0.962000	0.63368	-0.216000	0.09266	0.025000	0.15241	0.528000	0.53228	AAA	TRIML1	-	NULL	ENSG00000184108		0.438	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	HGNC	protein_coding	OTTHUMT00000359813.1		0	22	0	A	NM_178556		189063453	1			no_errors	ENST00000332517	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.997	T	T	189063453	A	T	189063453	3	4	127	1	0	0	0	0	1	0	0	0	16598	11	1	5	562	5	TRIML1	4	189063453	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	13165668	189063453	2090823	72	32793											
DNAH5	1767	genome.wustl.edu	37	chr5	13719067	13719067	+	Silent	SNP	T	T	C	0	1	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	ttaatggacatctgaaggagTgtaatgggaaactgcttatg	13	12	12	4	0	1	1	0	1	1	0	1	4	1	4	0	3	2	2	0	3	5	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr5:13719067T>C	ENST00000265104.4	-	72	12527	c.12423A>G	c.(12421-12423)acA>acG	p.T4141T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4141	AAA 6. {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)					TCTGAAGGAGTGTAATGGGAA	0.463									Kartagener syndrome																																								0													152	150	151					5																	13719067		2203	4300	6503	SO:0001819	synonymous_variant	0	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.12423A>G	5.37:g.13719067T>C			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T4141	ENST00000265104.4	37	c.12423	CCDS3882.1	5																																																																																			DNAH5	-	pfam_Dynein_heavy_dom	ENSG00000039139		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	32	0	T	NM_001369		13719067	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	silent	20.24	67	17	SNP	0.555	C	C	13719067	T	C	13719067	2	2	127	1	0	0	0	0	0	0	0	1	4618	1683	59	4		4	DNAH5	5	13719067	Silent	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09		13719067	167196193	73	32794											
DNAH5	1767	genome.wustl.edu	37	chr5	13719141	13719141	+	Missense_Mutation	SNP	T	T	A	0	1	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	atgtacaagctcagtttctaTgattatgtccatcagctcat	11	15	6	9	0	4	1	3	1	1	0	5	1	5	1	1	0	3	4	1	0	4	4	rs145501076	byFrequency	TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr5:13719141T>A	ENST00000265104.4	-	72	12453	c.12349A>T	c.(12349-12351)Ata>Tta	p.I4117L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4117	AAA 6. {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)					TCAGTTTCTATGATTATGTCC	0.458									Kartagener syndrome																																								0													119	116	117					5																	13719141		2203	4300	6503	SO:0001583	missense	0	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.12349A>T	5.37:g.13719141T>A	ENSP00000265104:p.Ile4117Leu		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I4117L	ENST00000265104.4	37	c.12349	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.501469	0.01001	.	.	ENSG00000039139	ENST00000265104	T	0.08102	3.13	5.59	-1.14	0.09741	Dynein heavy chain (1);	0.789109	0.12377	N	0.474265	T	0.03263	0.0095	N	0.04018	-0.295	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44421	-0.9329	10	0.26408	T	0.33	.	6.5576	0.22469	0.1219:0.4048:0.0:0.4732	.	4117	Q8TE73	DYH5_HUMAN	L	4117	ENSP00000265104:I4117L	ENSP00000265104:I4117L	I	-	1	0	DNAH5	13772141	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.385000	0.20685	-0.426000	0.07360	0.528000	0.53228	ATA	DNAH5	-	pfam_Dynein_heavy_dom	ENSG00000039139		0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	24	0	T	NM_001369		13719141	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	29.09	39	16	SNP	0.003	A	A	13719141	T	A	13719141	3	1	127	1	0	0	0	0	1	0	0	0	4618	1464	51	5	1557	5	DNAH5	5	13719141	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	74	13719141	167196119	74	32795											
CDH12	1010	genome.wustl.edu	37	chr5	21760720	21760720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcagcctcaggtgataatCtaaaggagaattgttgccca	13	10	10	8	0	2	2	1	1	1	1	2	3	2	2	2	2	3	2	2	2	5	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr5:21760720C>G	ENST00000382254.1	-	13	2666	c.1580G>C	c.(1579-1581)aGa>aCa	p.R527T	CDH12_ENST00000522262.1_Missense_Mutation_p.R487T|CDH12_ENST00000504376.2_Missense_Mutation_p.R527T|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)	527	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						AGGTGATAATCTAAAGGAGAA	0.383										HNSCC(59;0.17)																																							0													132	139	137					5																	21760720		2203	4300	6503	SO:0001583	missense	0			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.1580G>C	5.37:g.21760720C>G	ENSP00000371689:p.Arg527Thr		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R527T	ENST00000382254.1	37	c.1580	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306353	0.40795	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.52295	0.67;0.67;0.67	5.19	4.3	0.51218	Cadherin (4);Cadherin-like (1);	0.130079	0.64402	D	0.000001	T	0.36963	0.0986	N	0.21583	0.68	0.40890	D	0.984066	B;B	0.30542	0.001;0.284	B;B	0.36719	0.016;0.231	T	0.30446	-0.9978	10	0.45353	T	0.12	.	11.0434	0.47844	0.0:0.8406:0.0:0.1594	.	487;527	B7Z2U6;P55289	.;CAD12_HUMAN	T	527;527;487	ENSP00000423577:R527T;ENSP00000371689:R527T;ENSP00000428786:R487T	ENSP00000371689:R527T	R	-	2	0	CDH12	21796477	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.603000	0.24149	1.272000	0.44329	0.650000	0.86243	AGA	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000154162		0.383	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	-	0	86	0	C	NM_004061		21760720	-1	tier1	-	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	6.03	109	7	SNP	1.000	G	G	21760720	C	G	21760720	3	3	127	1	0	0	0	0	1	0	0	0	3105	913	32	5	816	5	CDH12	5	21760720	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	8041579	21760720	159154540	75	32796											
PRDM9	56979	genome.wustl.edu	37	chr5	23527472	23527472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtgggcggggctttcgcGataagtcacacctcctcaga	8	9	13	11	3	2	1	2	0	0	1	4	2	3	1	2	3	0	1	2	3	1	2	rs112666693		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr5:23527472G>A	ENST00000296682.3	+	11	2457	c.2275G>A	c.(2275-2277)Gat>Aat	p.D759N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	759					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.D759N(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						GGGCTTTCGCGATAAGTCACA	0.572										HNSCC(3;0.000094)																																							1	Substitution - Missense(1)	kidney(1)											63	89	81					5																	23527472		2132	4296	6428	SO:0001583	missense	0			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.2275G>A	5.37:g.23527472G>A	ENSP00000296682:p.Asp759Asn		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.D759N	ENST00000296682.3	37	c.2275	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.937166	0.00484	.	.	ENSG00000164256	ENST00000296682	T	0.35605	1.3	2.65	-1.92	0.07618	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	N	0.02275	-0.615	0.09310	N	1	P	0.35155	0.487	B	0.13407	0.009	T	0.13764	-1.0497	9	0.37606	T	0.19	.	9.3631	0.38208	0.0:0.3794:0.5202:0.1004	.	759	Q9NQV7	PRDM9_HUMAN	N	759	ENSP00000296682:D759N	ENSP00000296682:D759N	D	+	1	0	PRDM9	23563229	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-14.321000	0.00000	-0.886000	0.03966	-4.161000	0.00010	GAT	PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.572	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	142	0	G	NM_020227		23527472	1	tier1	rs112666693	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	13.43	115	18	SNP	0.000	A	A	23527472	G	A	23527472	3	1	127	1	0	0	0	0	1	0	0	0	12505	1058	37	1	2313	1	PRDM9	5	23527472	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	1766752	23527472	157387788	76	32797											
PDE4D	5144	genome.wustl.edu	37	chr5	58289273	58289273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagatgggtgagctccCgattaagcatccttttaaac	12	10	10	9	1	0	3	0	1	0	2	2	5	2	3	2	1	3	2	2	1	3	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr5:58289273C>T	ENST00000340635.6	-	7	1116	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	PDE4D_ENST00000360047.5_Missense_Mutation_p.R178Q|PDE4D_ENST00000317118.8_Missense_Mutation_p.R23Q|PDE4D_ENST00000546160.1_Missense_Mutation_p.R253Q|PDE4D_ENST00000503258.1_Missense_Mutation_p.R184Q|PDE4D_ENST00000405755.2_Missense_Mutation_p.R192Q|PDE4D_ENST00000507116.1_Missense_Mutation_p.R250Q|PDE4D_ENST00000358923.6_Missense_Mutation_p.R12Q|PDE4D_ENST00000502484.2_Missense_Mutation_p.R253Q	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	314					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGTGAGCTCCCGATTAAGCAT	0.323																																																	0													77	74	75					5																	58289273		1801	4074	5875	SO:0001583	missense	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.941G>A	5.37:g.58289273C>T	ENSP00000345502:p.Arg314Gln		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.R314Q	ENST00000340635.6	37	c.941	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	c	32	5.145466	0.94603	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.47;-0.5;-0.22;-0.27;-0.47;-0.48;-0.51;-0.51;-0.31	5.04	5.04	0.67666	.	0.107666	0.64402	D	0.000010	D	0.87716	0.6247	M	0.92412	3.305	0.58432	D	0.999996	D;D;D;D;D;D;P;P	0.69078	0.997;0.994;0.997;0.965;0.965;0.997;0.789;0.955	D;D;D;P;P;D;P;B	0.69479	0.964;0.921;0.964;0.69;0.69;0.964;0.493;0.345	D	0.90456	0.4442	10	0.72032	D	0.01	.	18.6122	0.91290	0.0:1.0:0.0:0.0	.	253;314;250;177;192;184;89;23	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	Q	314;183;178;250;12;23;184;192;253;253;12	ENSP00000345502:R314Q;ENSP00000353152:R178Q;ENSP00000424852:R250Q;ENSP00000351800:R12Q;ENSP00000321739:R23Q;ENSP00000425605:R184Q;ENSP00000384806:R192Q;ENSP00000423094:R253Q;ENSP00000442734:R253Q;ENSP00000421013:R12Q	ENSP00000321739:R23Q	R	-	2	0	PDE4D	58325030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.523000	0.81856	2.640000	0.89533	0.552000	0.68991	CGG	PDE4D	-	NULL	ENSG00000113448		0.323	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	-	0	65	0	C			58289273	-1	tier1	-	no_errors	ENST00000340635	ensembl	human	known	74_37	missense	21.43	33	9	SNP	1.000	T	T	58289273	C	T	58289273	3	4	127	1	0	0	0	0	1	0	0	0	11681	652	23	1	1524	1	PDE4D	5	58289273	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	34761801	58289273	122625987	77	32798											
PDE4D	5144	genome.wustl.edu	37	chr5	58511631	58511631	+	Missense_Mutation	SNP	A	A	G	1	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	ggcaatggaggagttccgggAcatagactttggagagaggt	11	8	17	5	1	0	2	0	0	0	2	1	7	1	6	1	6	0	2	1	6	2	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr5:58511631A>G	ENST00000340635.6	-	2	794	c.619T>C	c.(619-621)Tcc>Ccc	p.S207P	PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000360047.5_Missense_Mutation_p.S71P|PDE4D_ENST00000546160.1_Missense_Mutation_p.S146P|PDE4D_ENST00000503258.1_Missense_Mutation_p.S77P|PDE4D_ENST00000502575.1_Missense_Mutation_p.S143P|PDE4D_ENST00000405755.2_Missense_Mutation_p.S85P|PDE4D_ENST00000507116.1_Missense_Mutation_p.S143P|PDE4D_ENST00000502484.2_Missense_Mutation_p.S146P	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	207					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GAGTTCCGGGACATAGACTTT	0.443																																																	0													107	104	105					5																	58511631		1877	4116	5993	SO:0001583	missense	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.619T>C	5.37:g.58511631A>G	ENSP00000345502:p.Ser207Pro		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.S207P	ENST00000340635.6	37	c.619	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795632	0.90453	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	T;T;T;T;T;T;T;D	0.89939	-1.2;-1.16;-1.23;-1.16;-1.19;-1.23;-1.23;-2.59	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	M	0.82630	2.6	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	0.981;1.0;0.981;0.967;0.981;0.999;0.999;0.981	D;D;D;D;D;D;D;D	0.91635	0.972;0.999;0.959;0.939;0.959;0.999;0.999;0.959	D	0.95220	0.8333	10	0.87932	D	0	.	14.4182	0.67165	1.0:0.0:0.0:0.0	.	87;143;146;207;143;70;85;77	Q9HCX6;Q08499-12;Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10	.;.;.;PDE4D_HUMAN;.;.;.;.	P	207;76;71;143;77;85;146;146;143	ENSP00000345502:S207P;ENSP00000353152:S71P;ENSP00000424852:S143P;ENSP00000425605:S77P;ENSP00000384806:S85P;ENSP00000423094:S146P;ENSP00000442734:S146P;ENSP00000425917:S143P	ENSP00000308485:S143P	S	-	1	0	PDE4D	58547388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	1.863000	0.54032	0.482000	0.46254	TCC	PDE4D	-	NULL	ENSG00000113448		0.443	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	-	0	57	0	A			58511631	-1	tier1	-	no_errors	ENST00000340635	ensembl	human	known	74_37	missense	35.71	27	15	SNP	1.000	G	G	58511631	A	G	58511631	3	3	127	1	0	0	0	0	1	0	0	0	11681	275	10	4	1866	4	PDE4D	5	58511631	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	222358	58511631	122403629	78	32799											
EGR1	1958	genome.wustl.edu	37	chr5	137803304	137803304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcaccacccacatccgcaCccacacaggcgaaaagccct	12	3	5	21	2	1	0	1	0	0	0	2	1	2	0	6	1	1	1	6	1	2	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr5:137803304C>T	ENST00000239938.4	+	2	1438	c.1166C>T	c.(1165-1167)aCc>aTc	p.T389I		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	389					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACATCCGCACCCACACAGGC	0.597																																																	0													82	82	82					5																	137803304		2203	4300	6503	SO:0001583	missense	0			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1166C>T	5.37:g.137803304C>T	ENSP00000239938:p.Thr389Ile			Missense_Mutation	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T389I	ENST00000239938.4	37	c.1166	CCDS4206.1	5	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947286	0.53186	.	.	ENSG00000120738	ENST00000239938	T	0.51817	0.69	4.2	4.2	0.49525	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	0.50257	0.1605	N	0.11427	0.14	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.62053	-0.6935	10	0.87932	D	0	-25.9182	15.72	0.77700	0.0:1.0:0.0:0.0	.	389	P18146	EGR1_HUMAN	I	389	ENSP00000239938:T389I	ENSP00000239938:T389I	T	+	2	0	EGR1	137831203	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.651000	0.83577	2.177000	0.69029	0.563000	0.77884	ACC	EGR1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000120738		0.597	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1		0	52	0	C	NM_001964		137803304	1			no_errors	ENST00000239938	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	137803304	C	T	137803304	3	4	127	1	0	0	0	0	1	0	0	0	4985	507	18	3	1172	3	EGR1	5	137803304	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	79291673	137803304	43111956	79	32800											
PCDHB2	56133	genome.wustl.edu	37	chr5	140475258	140475258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacattcgcaaaacgtttcGattaagtgcaaaatcgggag	15	9	10	7	4	0	1	0	0	0	1	3	3	0	2	0	1	2	3	0	1	5	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr5:140475258G>T	ENST00000194155.4	+	1	1032	c.884G>T	c.(883-885)cGa>cTa	p.R295L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	295	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAACGTTTCGATTAAGTGCA	0.428																																																	0													81	83	82					5																	140475258		2203	4300	6503	SO:0001583	missense	0			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.884G>T	5.37:g.140475258G>T	ENSP00000194155:p.Arg295Leu		Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R295L	ENST00000194155.4	37	c.884	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	3.152	-0.174038	0.06421	.	.	ENSG00000112852	ENST00000194155	T	0.55413	0.52	5.42	-7.99	0.01131	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32852	0.0843	L	0.31845	0.965	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.30621	-0.9972	9	0.54805	T	0.06	.	4.9524	0.14021	0.5645:0.0814:0.1904:0.1638	.	295	Q9Y5E7	PCDB2_HUMAN	L	295	ENSP00000194155:R295L	ENSP00000194155:R295L	R	+	2	0	PCDHB2	140455442	0.000000	0.05858	0.155000	0.22561	0.190000	0.23558	-1.964000	0.01512	-1.669000	0.01470	-0.768000	0.03414	CGA	PCDHB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000112852		0.428	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2		0	61	0	G	NM_018936		140475258	1			no_errors	ENST00000194155	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.000	T	T	140475258	G	T	140475258	3	4	127	1	0	0	0	0	1	0	0	0	11581	1058	37	2	886	2	PCDHB2	5	140475258	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	2671954	140475258	40440002	80	32801											
PCDHB12	56124	genome.wustl.edu	37	chr5	140588791	140588791	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaatgagccttgtgtgctGtatttccaagtgttaatgaa	10	15	9	7	0	0	2	0	2	0	0	2	2	2	2	3	0	2	3	3	0	5	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr5:140588791G>A	ENST00000239450.2	+	1	501	c.312G>A	c.(310-312)ctG>ctA	p.L104L	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	104	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGTGTGCTGTATTTCCAAG	0.448																																																	0													79	88	85					5																	140588791		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.312G>A	5.37:g.140588791G>A			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L104	ENST00000239450.2	37	c.312	CCDS4254.1	5																																																																																			PCDHB12	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120328		0.448	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2		0	67	0	G	NM_018932		140588791	1			no_errors	ENST00000239450	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.002	A	A	140588791	G	A	140588791	2	1	127	1	0	0	0	0	0	0	0	1	11576	1364	48	3		3	PCDHB12	5	140588791	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	113533	140588791	40326469	81	32802											
POU4F3	5459	genome.wustl.edu	37	chr5	145719130	145719130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgcagggtaatatatttgGaagctttgatgagagcctgc	10	12	13	6	0	0	2	0	2	0	1	0	4	0	3	1	2	4	4	1	2	4	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr5:145719130G>A	ENST00000230732.4	+	2	229	c.140G>A	c.(139-141)gGa>gAa	p.G47E	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	47					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)			AATATATTTGGAAGCTTTGAT	0.542																																																	0													61	64	63					5																	145719130		2203	4300	6503	SO:0001583	missense	0			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.140G>A	5.37:g.145719130G>A	ENSP00000230732:p.Gly47Glu		O60557|Q2M3F8	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.G47E	ENST00000230732.4	37	c.140	CCDS4281.1	5	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574080	0.65765	.	.	ENSG00000091010	ENST00000230732	T	0.21361	2.01	4.35	4.35	0.52113	.	0.321385	0.30320	N	0.009887	T	0.23806	0.0576	L	0.59436	1.845	0.80722	D	1	P	0.48089	0.905	B	0.39935	0.314	T	0.14924	-1.0455	10	0.87932	D	0	.	15.8169	0.78608	0.0:0.0:1.0:0.0	.	47	Q15319	PO4F3_HUMAN	E	47	ENSP00000230732:G47E	ENSP00000230732:G47E	G	+	2	0	POU4F3	145699323	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.092000	0.50207	2.249000	0.74217	0.462000	0.41574	GGA	POU4F3	-	NULL	ENSG00000091010		0.542	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	-	0	89	0	G	NM_002700		145719130	1	tier1	-	no_errors	ENST00000230732	ensembl	human	known	74_37	missense	58.67	31	44	SNP	1.000	A	A	145719130	G	A	145719130	3	1	127	1	0	0	0	0	1	0	0	0	12319	1174	41	3	146	3	POU4F3	5	145719130	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	5130339	145719130	35196130	82	32803											
CSF1R	1436	genome.wustl.edu	37	chr5	149459676	149459676	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacccatcagggcactGcattgatagtcctggctctg	7	10	10	14	0	2	1	1	1	1	0	3	1	3	1	3	2	2	3	3	2	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr5:149459676G>A	ENST00000286301.3	-	4	822	c.531C>T	c.(529-531)tgC>tgT	p.C177C	CSF1R_ENST00000543093.1_Silent_p.C177C	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	177	Ig-like C2-type 2.				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)	TCAGGGCACTGCATTGATAGT	0.607																																																	0													91	74	80					5																	149459676		2203	4300	6503	SO:0001819	synonymous_variant	0			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.531C>T	5.37:g.149459676G>A			B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.C177	ENST00000286301.3	37	c.531	CCDS4302.1	5																																																																																			CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub	ENSG00000182578		0.607	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2		0	26	0	G	NM_005211		149459676	-1			no_errors	ENST00000286301	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.232	A	A	149459676	G	A	149459676	2	1	127	1	0	0	0	0	0	0	0	1	3941	1311	46	3		3	CSF1R	5	149459676	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	3740546	149459676	31455584	83	32804											
BMP6	654	genome.wustl.edu	37	chr6	7880462	7880462	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagtatgtccccaaaccGtgctgtgcgccaactaagct	9	8	9	15	3	0	0	0	0	0	0	1	1	1	0	5	0	5	3	5	0	4	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:7880462G>A	ENST00000283147.6	+	7	1587	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	476			P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TCCCCAAACCGTGCTGTGCGC	0.443																																																	0													188	198	195					6																	7880462		2203	4300	6503	SO:0001819	synonymous_variant	0			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1428G>A	6.37:g.7880462G>A			Q5TCP3	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.P476	ENST00000283147.6	37	c.1428	CCDS4503.1	6																																																																																			BMP6	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000153162		0.443	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP6	HGNC	protein_coding	OTTHUMT00000039794.1	-	0	72	0	G	NM_001718		7880462	1	tier1	-	no_errors	ENST00000283147	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.942	A	A	7880462	G	A	7880462	2	1	127	1	0	0	0	0	0	0	0	1	1466	1132	40	1		1	BMP6	6	7880462	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09		7880462	163234605	84	32805											
HIST1H3C	8352	genome.wustl.edu	37	chr6	26045940	26045940	+	Missense_Mutation	SNP	T	T	A	0	1	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	ggaggcttgtgaggcctaccTggtgggactcttcgaagaca	8	9	15	9	1	1	2	0	1	1	1	2	5	1	4	2	5	1	1	2	5	2	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:26045940T>A	ENST00000540144.1	+	1	302	c.302T>A	c.(301-303)cTg>cAg	p.L101Q	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	101					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						GAGGCCTACCTGGTGGGACTC	0.577																																																	0													64	58	60					6																	26045940		2203	4300	6503	SO:0001583	missense	0			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.302T>A	6.37:g.26045940T>A	ENSP00000439493:p.Leu101Gln		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.L101Q	ENST00000540144.1	37	c.302	CCDS4576.1	6	.	.	.	.	.	.	.	.	.	.	T	14.16	2.452247	0.43531	.	.	ENSG00000196532	ENST00000540144	T	0.55930	0.49	4.38	4.38	0.52667	.	.	.	.	.	T	0.57169	0.2035	.	.	.	0.42764	D	0.993813	.	.	.	.	.	.	T	0.64179	-0.6468	6	0.72032	D	0.01	.	13.4755	0.61306	0.0:0.0:0.0:1.0	.	.	.	.	Q	101	ENSP00000439493:L101Q	ENSP00000439493:L101Q	L	+	2	0	HIST1H3C	26153919	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	4.921000	0.63397	1.927000	0.55829	0.402000	0.26972	CTG	HIST1H3C	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000196532		0.577	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3C	HGNC	protein_coding	OTTHUMT00000040078.1	-	0	129	0	T	NM_003531		26045940	1	tier1	-	no_errors	ENST00000540144	ensembl	human	known	74_37	missense	37.78	56	34	SNP	1.000	A	A	26045940	T	A	26045940	3	1	127	1	0	0	0	0	1	0	0	0	7184	1580	55	5	304	5	HIST1H3C	6	26045940	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	18165478	26045940	145069127	85	32806											
HIST1H2AH	85235	genome.wustl.edu	37	chr6	27115271	27115271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgctgcctaagaagactGagagccaccataaggccaaa	14	6	10	11	0	0	3	0	1	0	3	0	4	0	3	4	1	4	2	4	1	4	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:27115271G>C	ENST00000377459.1	+	1	411	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank|MIR3143_ENST00000584253.1_RNA	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TAAGAAGACTGAGAGCCACCA	0.522																																																	0													59	62	61					6																	27115271		2203	4300	6503	SO:0001583	missense	0			AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"Histones / Replication-dependent"	13671	protein-coding gene	gene with protein product		615013	"histone 1, H2ah"			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.364G>C	6.37:g.27115271G>C	ENSP00000366679:p.Glu122Gln			Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E122Q	ENST00000377459.1	37	c.364	CCDS4622.1	6	.	.	.	.	.	.	.	.	.	.	G	11.48	1.649965	0.29336	.	.	ENSG00000184825	ENST00000377459	D	0.90563	-2.69	4.06	4.06	0.47325	Histone-fold (2);Histone H2A (1);	0.000000	0.41500	D	0.000879	T	0.78898	0.4356	L	0.35288	1.05	0.35814	D	0.824071	B	0.09022	0.002	B	0.04013	0.001	T	0.75950	-0.3137	10	0.37606	T	0.19	.	14.5447	0.68020	0.0:0.0:1.0:0.0	.	122	Q96KK5	H2A1H_HUMAN	Q	122	ENSP00000366679:E122Q	ENSP00000366679:E122Q	E	+	1	0	HIST1H2AH	27223250	1.000000	0.71417	0.997000	0.53966	0.484000	0.33280	8.660000	0.91121	2.201000	0.70794	0.655000	0.94253	GAG	HIST1H2AH	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000184825		0.522	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AH	HGNC	protein_coding	OTTHUMT00000040136.1	-	0	103	0	G	NM_080596		27115271	1	tier1	-	no_errors	ENST00000377459	ensembl	human	known	74_37	missense	38.61	62	39	SNP	1.000	C	C	27115271	G	C	27115271	3	2	127	1	0	0	0	0	1	0	0	0	7161	1291	45	5	366	5	HIST1H2AH	6	27115271	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	1069331	27115271	143999796	86	32807											
OR2W1	26692	genome.wustl.edu	37	chr6	29012660	29012660	+	Missense_Mutation	SNP	A	A	T	1	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	tgtaaacatagagttggatgAtacaacccacatagctgatg	15	10	9	7	0	0	3	0	2	0	1	0	4	0	4	1	1	4	3	1	1	6	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:29012660A>T	ENST00000377175.1	-	1	357	c.293T>A	c.(292-294)aTc>aAc	p.I98N		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GAGTTGGATGATACAACCCAC	0.433																																																	0													88	73	79					6																	29012660		1511	2709	4220	SO:0001583	missense	0			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.293T>A	6.37:g.29012660A>T	ENSP00000366380:p.Ile98Asn		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I98N	ENST00000377175.1	37	c.293	CCDS4656.1	6	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594662	0.28445	.	.	ENSG00000204704	ENST00000377175	T	0.00507	6.92	4.78	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.956675	0.08619	N	0.918734	T	0.00300	0.0009	M	0.80616	2.505	0.09310	N	1	P	0.41041	0.736	B	0.37387	0.248	T	0.43458	-0.9390	10	0.87932	D	0	.	5.3017	0.15781	0.7936:0.0:0.2064:0.0	.	98	Q9Y3N9	OR2W1_HUMAN	N	98	ENSP00000366380:I98N	ENSP00000366380:I98N	I	-	2	0	OR2W1	29120639	0.000000	0.05858	0.523000	0.27875	0.531000	0.34715	0.943000	0.29030	1.762000	0.52044	0.477000	0.44152	ATC	OR2W1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000204704		0.433	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W1	HGNC	protein_coding	OTTHUMT00000076053.2	-	0	32	0	A			29012660	-1	tier1	-	no_errors	ENST00000377175	ensembl	human	known	74_37	missense	56.00	11	14	SNP	0.022	T	T	29012660	A	T	29012660	3	4	127	1	0	0	0	0	1	0	0	0	11071	333	12	5	673	5	OR2W1	6	29012660	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	1897389	29012660	142102407	87	32808											
HSPA1A	3303	genome.wustl.edu	37	chr6	31783686	31783686	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggacaccgagcggctcatCggggatgcggccaagaacca	11	3	14	13	5	1	1	1	0	0	1	2	4	1	3	3	5	3	1	3	5	2	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:31783686C>T	ENST00000375651.5	+	1	396	c.153C>T	c.(151-153)atC>atT	p.I51I	HSPA1A_ENST00000458062.2_Intron|HSPA1A_ENST00000608703.1_Intron|HSPA1L_ENST00000375654.4_5'Flank|HSPA1L_ENST00000417199.3_5'Flank	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	51					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						AGCGGCTCATCGGGGATGCGG	0.647																																																	0													8	9	9					6																	31783686		2115	4150	6265	SO:0001819	synonymous_variant	0			BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"Heat shock proteins / HSP70"	5232	protein-coding gene	gene with protein product		140550	"heat shock 70kD protein 1A"	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.153C>T	6.37:g.31783686C>T			B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.I51	ENST00000375651.5	37	c.153	CCDS34414.1	6																																																																																			HSPA1A	-	pfam_Hsp_70_fam	ENSG00000204389		0.647	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1A	HGNC	protein_coding	OTTHUMT00000076401.2	-	0	34	0	C			31783686	1	tier1	-	no_errors	ENST00000375651	ensembl	human	known	74_37	silent	65.38	9	17	SNP	1.000	T	T	31783686	C	T	31783686	2	4	127	1	0	0	0	0	0	0	0	1	7435	874	31	1		1	HSPA1A	6	31783686	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	2771026	31783686	139331381	88	32809											
TDRD6	221400	genome.wustl.edu	37	chr6	46658264	46658264	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacatacaaggacttaaaaCtctaatgtctgatattcagt	16	12	6	7	0	3	1	1	1	2	0	3	3	3	2	0	1	3	0	0	1	7	5	rs375428009		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:46658264C>G	ENST00000316081.6	+	1	2399	c.2399C>G	c.(2398-2400)aCt>aGt	p.T800S	TDRD6_ENST00000544460.1_Missense_Mutation_p.T800S|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	800					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)			GGACTTAAAACTCTAATGTCT	0.428																																																	0													93	95	95					6																	46658264		2203	4300	6503	SO:0001583	missense	0			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.2399C>G	6.37:g.46658264C>G	ENSP00000346065:p.Thr800Ser		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.T800S	ENST00000316081.6	37	c.2399	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	C	8.872	0.949481	0.18356	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.08984	3.03;3.03	5.75	4.83	0.62350	Maternal tudor protein (1);	1.108360	0.06499	N	0.736001	T	0.01905	0.0060	L	0.27053	0.805	0.09310	N	1	B;B	0.17038	0.016;0.02	B;B	0.19666	0.015;0.026	T	0.46386	-0.9195	10	0.09843	T	0.71	-19.9356	6.5047	0.22188	0.1341:0.665:0.1298:0.071	.	800;800	F5H5M3;O60522	.;TDRD6_HUMAN	S	800	ENSP00000443299:T800S;ENSP00000346065:T800S	ENSP00000346065:T800S	T	+	2	0	TDRD6	46766223	0.000000	0.05858	0.155000	0.22561	0.868000	0.49771	0.527000	0.22987	2.711000	0.92665	0.655000	0.94253	ACT	TDRD6	-	pfam_Tudor	ENSG00000180113		0.428	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	-	0	42	0	C	XM_166443		46658264	1	tier1	-	no_errors	ENST00000316081	ensembl	human	known	74_37	missense	31.82	30	14	SNP	0.000	G	G	46658264	C	G	46658264	3	3	127	1	0	0	0	0	1	0	0	0	15781	565	20	5	2401	5	TDRD6	6	46658264	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	14874578	46658264	124456803	89	32810											
B3GAT2	135152	genome.wustl.edu	37	chr6	71666093	71666093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgacaattaggatccaggGcaggaggataaagaagcggg	15	5	16	5	1	0	2	0	1	0	1	1	6	1	5	1	5	1	1	1	5	5	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:71666093G>A	ENST00000230053.6	-	1	648	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	14					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGGATCCAGGGCAGGAGGATA	0.657																																																	0													11	14	13					6																	71666093		1970	3931	5901	SO:0001583	missense	0			AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"Beta-1,3-glucuronyltransferases"	922	protein-coding gene	gene with protein product	"glucuronosyltransferase S", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.40C>T	6.37:g.71666093G>A	ENSP00000230053:p.Pro14Ser		Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.P14S	ENST00000230053.6	37	c.40	CCDS4974.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996778	0.74818	.	.	ENSG00000112309	ENST00000230053	T	0.68181	-0.31	4.54	3.59	0.41128	.	0.060067	0.64402	D	0.000002	T	0.64692	0.2621	M	0.66939	2.045	0.58432	D	0.999995	D;D	0.64830	0.994;0.964	P;P	0.53102	0.718;0.466	T	0.68644	-0.5354	10	0.52906	T	0.07	-3.1491	11.9629	0.53019	0.0:0.0:0.8256:0.1744	.	14;14	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	S	14	ENSP00000230053:P14S	ENSP00000230053:P14S	P	-	1	0	B3GAT2	71722814	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	5.107000	0.64603	2.050000	0.60909	0.555000	0.69702	CCC	B3GAT2	-	NULL	ENSG00000112309		0.657	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GAT2	HGNC	protein_coding	OTTHUMT00000041150.2	-	0	87	0	G	NM_080742		71666093	-1	tier1	-	no_errors	ENST00000230053	ensembl	human	known	74_37	missense	37.18	48	29	SNP	1.000	A	A	71666093	G	A	71666093	3	1	127	1	0	0	0	0	1	0	0	0	1255	1203	42	3	947	3	B3GAT2	6	71666093	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	25007829	71666093	99448974	90	32811											
ASCC3	10973	genome.wustl.edu	37	chr6	101099510	101099510	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttgtgagcatcaaagaGttcattaaaggtctaccaaa	14	13	8	6	0	3	2	2	1	1	1	3	2	3	2	1	1	2	3	1	1	5	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:101099510G>C	ENST00000369162.2	-	19	3345	c.3001C>G	c.(3001-3003)Ctc>Gtc	p.L1001V		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1001	SEC63 1.				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)		GCATCAAAGAGTTCATTAAAG	0.239																																																	0													103	101	102					6																	101099510		2203	4297	6500	SO:0001583	missense	0			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.3001C>G	6.37:g.101099510G>C	ENSP00000358159:p.Leu1001Val		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1001V	ENST00000369162.2	37	c.3001	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336329	0.41398	.	.	ENSG00000112249	ENST00000369162	T	0.61627	0.09	5.87	4.1	0.47936	Sec63 domain (3);	0.211924	0.37809	N	0.001928	T	0.38188	0.1031	M	0.63843	1.955	0.80722	D	1	B	0.20459	0.045	B	0.35353	0.201	T	0.24333	-1.0163	10	0.17369	T	0.5	.	8.9016	0.35499	0.2978:0.0:0.7022:0.0	.	1001	Q8N3C0	HELC1_HUMAN	V	1001	ENSP00000358159:L1001V	ENSP00000358159:L1001V	L	-	1	0	ASCC3	101206231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.271000	0.43364	0.834000	0.34852	0.650000	0.86243	CTC	ASCC3	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000112249		0.239	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	-	0	157	0	G	NM_006828		101099510	-1	tier1	-	no_errors	ENST00000369162	ensembl	human	known	74_37	missense	21.97	135	38	SNP	1.000	C	C	101099510	G	C	101099510	3	2	127	1	0	0	0	0	1	0	0	0	1034	1029	36	5	3703	5	ASCC3	6	101099510	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	29433417	101099510	70015557	91	32812											
FIG4	9896	genome.wustl.edu	37	chr6	110112640	110112640	+	Frame_Shift_Del	DEL	C	C	-																															cggcagccagcgccccgccgCcccccagcgaggaggctgtg																										TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:110112640delC	ENST00000230124.3	+	20	2366	c.2242delC	c.(2242-2244)cccfs	p.P749fs	FIG4_ENST00000441478.2_Frame_Shift_Del_p.P472fs	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	749	Poly-Pro.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CGCCCCGCCGCCCCCCAGCGA	0.517																																																	0													59	69	66					6																	110112640		2203	4300	6503	SO:0001589	frameshift_variant	0			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2242delC	6.37:g.110112640delC	ENSP00000230124:p.Pro749fs		Q53H49|Q5TCS6	Frame_Shift_Del	DEL	pfam_Syja_N,pfscan_Syja_N	p.S750fs	ENST00000230124.3	37	c.2242	CCDS5078.1	6																																																																																			FIG4	-	NULL	ENSG00000112367		0.517	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1		0	53	0	C	NM_014845		110112640	1	tier1		no_errors	ENST00000230124	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.999	-	-	110112640	C	-	110112640	7	5	127	1	0	1	0	1	0	0	0	0	5910	739	26	0	2320	0	FIG4	6	110112640	Frame_Shift_Del	DEL	C	TCGA-LN-A7HY-01A-12D-A351-09	9013130	110112640	61002427	92	32813											
NCOA7	135112	genome.wustl.edu	37	chr6	126210540	126210540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctcttgacccagaggaacGaaagaaagctgagtcacaaa	16	7	9	9	1	2	4	1	2	1	2	3	6	2	5	1	1	2	1	1	1	4	2	rs377026001		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:126210540G>A	ENST00000368357.3	+	10	1692	c.1340G>A	c.(1339-1341)cGa>cAa	p.R447Q	NCOA7_ENST00000229634.9_Missense_Mutation_p.R332Q|NCOA7_ENST00000392477.2_Missense_Mutation_p.R447Q	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	447					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)		CCAGAGGAACGAAAGAAAGCT	0.443																																																	0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	58	62	61		1307,1340,1340,995,1340	-5.5	0	6		61	0,8598		0,0,4299	no	missense,missense,missense,missense,missense	NCOA7	NM_001122842.2,NM_001199619.1,NM_001199620.1,NM_001199621.1,NM_181782.4	43,43,43,43,43	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	436/932,447/943,447/943,332/828,447/943	126210540	1,13001	2202	4299	6501	SO:0001583	missense	0			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.1340G>A	6.37:g.126210540G>A	ENSP00000357341:p.Arg447Gln		B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc	p.R447Q	ENST00000368357.3	37	c.1340	CCDS5132.1	6	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.415080	0.01145	2.27E-4	0.0	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.31510	2.75;2.75;2.74;1.49	5.09	-5.49	0.02584	.	1.324370	0.05063	N	0.480222	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.0	T	0.27123	-1.0083	10	0.12766	T	0.61	-21.7387	2.1022	0.03683	0.4735:0.1099:0.1078:0.3088	.	436;436;447	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	Q	447;447;332;245	ENSP00000357341:R447Q;ENSP00000376269:R447Q;ENSP00000229634:R332Q;ENSP00000389186:R245Q	ENSP00000229634:R332Q	R	+	2	0	NCOA7	126252233	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.097000	0.11042	-0.960000	0.03613	-0.894000	0.02916	CGA	NCOA7	-	NULL	ENSG00000111912		0.443	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	HGNC	protein_coding	OTTHUMT00000042083.4		0	56	0	G	XM_059748		126210540	1			no_errors	ENST00000368357	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	A	A	126210540	G	A	126210540	3	1	127	1	0	0	0	0	1	0	0	0	10273	1058	37	1	1370	1	NCOA7	6	126210540	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	16097900	126210540	44904527	93	32814											
C6orf174	387104	genome.wustl.edu	37	chr6	127834136	127834136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcttctgttgttgttCtcttttcttccacattttct	3	25	3	10	0	6	0	1	0	5	0	8	0	7	0	1	0	0	3	1	0	0	10			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:127834136C>A	ENST00000525778.1	-	4	2130	c.1385G>T	c.(1384-1386)aGa>aTa	p.R462I	SOGA3_ENST00000556132.1_Missense_Mutation_p.R462I|SOGA3_ENST00000465909.2_Missense_Mutation_p.R462I|SOGA3_ENST00000481848.2_Missense_Mutation_p.R462I|SOGA3_ENST00000368268.2_Missense_Mutation_p.R462I			Q5TF21	SOGA3_HUMAN	SOGA family member 3	462					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGTTGTTGTTCTCTTTTCTTC	0.328																																																	0													159	138	144					6																	127834136		1835	4097	5932	SO:0001583	missense	0			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.1385G>T	6.37:g.127834136C>A	ENSP00000434570:p.Arg462Ile			Missense_Mutation	SNP	pfam_SOGA	p.R462I	ENST00000525778.1	37	c.1385	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.070757	0.93950	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.71461	-0.4586	10	0.87932	D	0	-12.4429	19.7987	0.96497	0.0:1.0:0.0:0.0	.	462	Q5TF21	CF174_HUMAN	I	462	ENSP00000451768:R462I;ENSP00000357251:R462I;ENSP00000434570:R462I;ENSP00000435559:R462I	ENSP00000435559:R462I	R	-	2	0	C6orf174	127875829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.767000	0.95098	0.655000	0.94253	AGA	SOGA3	-	NULL	ENSG00000214338		0.328	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	-	0	57	0	C	NM_001012279		127834136	-1	tier1	-	no_errors	ENST00000368268	ensembl	human	known	74_37	missense	35.82	43	24	SNP	1.000	A	A	127834136	C	A	127834136	3	1	127	1	0	0	0	0	1	0	0	0	2352	913	32	3	1474	3	C6orf174	6	127834136	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	1623596	127834136	43280931	94	32815											
SHPRH	257218	genome.wustl.edu	37	chr6	146243864	146243864	+	Silent	SNP	T	T	C	0	1	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	gactcaataacattacgagaTggaggtccctccaggttttt	11	12	9	9	1	1	1	1	0	0	1	3	4	3	2	2	3	2	1	2	3	3	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:146243864T>C	ENST00000367505.2	-	19	3918	c.3654A>G	c.(3652-3654)ccA>ccG	p.P1218P	SHPRH_ENST00000367503.3_Silent_p.P1222P|SHPRH_ENST00000438092.2_Silent_p.P1222P|SHPRH_ENST00000275233.7_Silent_p.P1218P			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1218					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CATTACGAGATGGAGGTCCCT	0.418																																																	0													93	92	92					6																	146243864		1883	4108	5991	SO:0001819	synonymous_variant	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3654A>G	6.37:g.146243864T>C			Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.P1222	ENST00000367505.2	37	c.3666	CCDS43513.2	6																																																																																			SHPRH	-	superfamily_P-loop_NTPase	ENSG00000146414		0.418	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	-	0	66	0	T	NM_173082		146243864	-1	tier1	-	no_errors	ENST00000367503	ensembl	human	known	74_37	silent	18.60	70	16	SNP	0.807	C	C	146243864	T	C	146243864	2	2	127	1	0	0	0	0	0	0	0	1	14336	1451	51	4		4	SHPRH	6	146243864	Silent	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	18409728	146243864	24871203	95	32816											
FRMD1	79981	genome.wustl.edu	37	chr6	168461507	168461507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggaggacggctccttctCatggagcccgtggacctcca	6	8	13	14	2	1	0	1	0	1	0	4	4	3	4	4	5	1	2	4	5	0	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr6:168461507C>T	ENST00000283309.6	-	9	1340	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	FRMD1_ENST00000537786.1_Missense_Mutation_p.E197K|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.E358K	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	426						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCTCCTTCTCATGGAGCCCG	0.652																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)												0													43	40	41					6																	168461507		2203	4300	6503	SO:0001583	missense	0				CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1276G>A	6.37:g.168461507C>T	ENSP00000283309:p.Glu426Lys		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.E426K	ENST00000283309.6	37	c.1276	CCDS5306.1	6	.	.	.	.	.	.	.	.	.	.	C	9.055	0.993021	0.19043	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.41400	1.0;1.0;1.0	2.48	1.59	0.23543	.	3.986040	0.01554	U	0.019796	T	0.12732	0.0309	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.33266	0.032;0.404;0.366;0.155	B;B;B;B	0.30401	0.013;0.096;0.115;0.084	T	0.09662	-1.0664	10	0.30854	T	0.27	.	3.0334	0.06113	0.0:0.3782:0.2254:0.3964	.	361;426;358;321	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	K	426;358;197	ENSP00000283309:E426K;ENSP00000414115:E358K;ENSP00000440078:E197K	ENSP00000283309:E426K	E	-	1	0	FRMD1	168204356	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.572000	0.05881	0.382000	0.24878	0.313000	0.20887	GAG	FRMD1	-	NULL	ENSG00000153303		0.652	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD1	HGNC	protein_coding	OTTHUMT00000362513.2	-	0	63	0	C	NM_024919		168461507	-1	tier1	-	no_errors	ENST00000283309	ensembl	human	known	74_37	missense	37.18	49	29	SNP	0.001	T	T	168461507	C	T	168461507	3	4	127	1	0	0	0	0	1	0	0	0	6073	835	29	3	385	3	FRMD1	6	168461507	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	22217643	168461507	2653560	96	32817											
C7orf27	221927	genome.wustl.edu	37	chr7	2581386	2581386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccaggtgagccagggtgCggcacaggaggccggcgcag	7	3	18	13	3	0	1	0	1	0	0	1	2	1	2	4	6	2	2	4	6	0	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr7:2581386C>T	ENST00000340611.4	-	8	1356	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	367					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						AGCCAGGGTGCGGCACAGGAG	0.701																																																	0													18	27	24					7																	2581386		2202	4296	6498	SO:0001583	missense	0			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.1100G>A	7.37:g.2581386C>T	ENSP00000339637:p.Arg367His		A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R367H	ENST00000340611.4	37	c.1100	CCDS5334.1	7	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776769	0.49786	.	.	ENSG00000106009	ENST00000340611	T	0.68025	-0.3	5.0	-4.25	0.03766	Armadillo-type fold (1);	0.566223	0.18304	N	0.145302	T	0.48205	0.1487	L	0.40543	1.245	0.18873	N	0.999985	P	0.49783	0.928	B	0.36504	0.226	T	0.52245	-0.8601	10	0.40728	T	0.16	-1.0081	13.1816	0.59657	0.0:0.1096:0.0:0.8904	.	367	Q6PJG6	BRAT1_HUMAN	H	367	ENSP00000339637:R367H	ENSP00000339637:R367H	R	-	2	0	BRAT1	2547912	0.726000	0.28059	0.014000	0.15608	0.892000	0.51952	0.112000	0.15479	-0.861000	0.04094	0.462000	0.41574	CGC	BRAT1	-	superfamily_ARM-type_fold	ENSG00000106009		0.701	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAT1	HGNC	protein_coding	OTTHUMT00000239305.2		0	58	0	C	NM_152743		2581386	-1			no_errors	ENST00000340611	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.323	T	T	2581386	C	T	2581386	3	4	127	1	0	0	0	0	1	0	0	0	2389	768	27	1	1393	1	C7orf27	7	2581386	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09		2581386	156557277	97	32818											
MIOS	54468	genome.wustl.edu	37	chr7	7628156	7628156	+	Missense_Mutation	SNP	A	A	G	1	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	acaaagttgcagtacgtgacAgagtggcatttgcttgtaaa	13	11	11	6	1	0	2	0	1	0	1	0	2	0	2	0	1	3	6	0	1	4	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr7:7628156A>G	ENST00000340080.4	+	8	2267	c.1846A>G	c.(1846-1848)Aga>Gga	p.R616G	MIOS_ENST00000405785.1_Missense_Mutation_p.R616G	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	616						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						AGTACGTGACAGAGTGGCATT	0.343																																																	0													98	97	98					7																	7628156		1854	4102	5956	SO:0001583	missense	0				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.1846A>G	7.37:g.7628156A>G	ENSP00000339881:p.Arg616Gly		B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	smart_WD40_repeat	p.R616G	ENST00000340080.4	37	c.1846	CCDS43554.1	7	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809732	0.70797	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.67171	-0.25;-0.25	5.26	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84588	0.0665	10	0.87932	D	0	-20.9955	12.0538	0.53522	0.5861:0.4139:0.0:0.0	.	616	Q9NXC5	MIO_HUMAN	G	616	ENSP00000339881:R616G;ENSP00000384088:R616G	ENSP00000339881:R616G	R	+	1	2	MIOS	7594681	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.832000	0.39151	0.927000	0.37143	0.477000	0.44152	AGA	MIOS	-	NULL	ENSG00000164654		0.343	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIOS	HGNC	protein_coding	OTTHUMT00000326218.1	-	0	64	0	A	NM_019005		7628156	1	tier1	-	no_errors	ENST00000340080	ensembl	human	known	74_37	missense	12.70	55	8	SNP	1.000	G	G	7628156	A	G	7628156	3	3	127	1	0	0	0	0	1	0	0	0	9627	180	7	4	1864	4	MIOS	7	7628156	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	5046770	7628156	151510507	98	32819											
PHF14	9678	genome.wustl.edu	37	chr7	11068417	11068417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacctgtgctcaaaaggaagGtctgctttcagaggcagcgg	10	8	14	9	1	3	1	2	0	1	1	3	3	3	2	1	4	3	3	1	4	3	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr7:11068417G>T	ENST00000403050.3	+	7	1879	c.1427G>T	c.(1426-1428)gGt>gTt	p.G476V	PHF14_ENST00000445996.2_Missense_Mutation_p.G191V	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	476					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		CAAAAGGAAGGTCTGCTTTCA	0.443																																																	0													126	119	121					7																	11068417		1950	4156	6106	SO:0001583	missense	0			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1427G>T	7.37:g.11068417G>T	ENSP00000385795:p.Gly476Val		A7MCZ3|B4DI82	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G476V	ENST00000403050.3	37	c.1427	CCDS47542.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.140060	0.94560	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.18960	2.18;2.18	5.31	5.31	0.75309	Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	H	0.96916	3.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.997	T	0.77284	-0.2645	10	0.87932	D	0	.	19.3605	0.94436	0.0:0.0:1.0:0.0	.	191;191;476;476	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	V	476;191	ENSP00000385795:G476V;ENSP00000403907:G191V	ENSP00000385795:G476V	G	+	2	0	PHF14	11034942	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	9.752000	0.98900	2.630000	0.89119	0.650000	0.86243	GGT	PHF14	-	smart_Znf_PHD	ENSG00000106443		0.443	PHF14-001	KNOWN	basic|CCDS	protein_coding	PHF14	HGNC	protein_coding	OTTHUMT00000318212.1	-	0	62	0	G	NM_014660		11068417	1	tier1	-	no_errors	ENST00000403050	ensembl	human	known	74_37	missense	34.78	30	16	SNP	1.000	T	T	11068417	G	T	11068417	3	4	127	1	0	0	0	0	1	0	0	0	11864	1261	44	3	1453	3	PHF14	7	11068417	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	3440261	11068417	148070246	99	32820											
ABCB5	340273	genome.wustl.edu	37	chr7	20766663	20766663	+	Splice_Site	SNP	A	A	G	1	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	gtattgtcctgttttataagAtagcaactgaagctttggag	11	15	10	5	0	0	2	0	1	0	1	1	3	1	3	1	1	3	4	1	1	6	7			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr7:20766663A>G	ENST00000404938.2	+	22	3278	c.2626A>G	c.(2626-2628)Ata>Gta	p.I876V	ABCB5_ENST00000258738.6_Splice_Site_p.I431V	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	876	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTTTTATAAGATAGCAACTGA	0.338																																																	0													74	78	76					7																	20766663		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2626-1A>G	7.37:g.20766663A>G			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.I431V	ENST00000404938.2	37	c.1291	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	A	12.52	1.962847	0.34659	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.87491	-2.26;-2.26	4.54	4.54	0.55810	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000004	D	0.84737	0.5538	L	0.31752	0.955	0.36815	D	0.886091	B;B;P	0.36465	0.439;0.216;0.554	P;B;B	0.47786	0.557;0.193;0.371	D	0.84774	0.0769	9	.	.	.	.	12.5018	0.55960	1.0:0.0:0.0:0.0	.	876;54;431	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	V	876;431	ENSP00000384881:I876V;ENSP00000258738:I431V	.	I	+	1	0	ABCB5	20733188	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.453000	0.44970	2.263000	0.75096	0.533000	0.62120	ATA	ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000004846		0.338	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	-	0	43	0	A	NM_178559	Missense_Mutation	20766663	1	tier1	-	no_errors	ENST00000258738	ensembl	human	known	74_37	missense	34.15	27	14	SNP	1.000	G	G	20766663	A	G	20766663	5	3	127	1	0	0	0	0	0	0	1	0	44	347	12	4	2749	4	ABCB5	7	20766663	Splice_Site	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	9698246	20766663	138372000	100	32821											
NOD1	10392	genome.wustl.edu	37	chr7	30491759	30491759	+	Missense_Mutation	SNP	A	A	C	1	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	ggacctcagtgaccaggaggAagacatctgtcagggtcatc	11	7	13	10	0	4	2	3	1	1	1	5	5	4	5	2	4	0	0	2	4	1	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr7:30491759A>C	ENST00000222823.4	-	6	1799	c.1274T>G	c.(1273-1275)tTc>tGc	p.F425C	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	425	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|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 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GACCAGGAGGAAGACATCTGT	0.617																																																	0													69	66	67					7																	30491759		2203	4300	6503	SO:0001583	missense	0			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1274T>G	7.37:g.30491759A>C	ENSP00000222823:p.Phe425Cys		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.F425C	ENST00000222823.4	37	c.1274	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619211	0.46736	.	.	ENSG00000106100	ENST00000222823	T	0.72725	-0.68	5.71	4.54	0.55810	NACHT nucleoside triphosphatase (1);	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83283	-0.0037	10	0.87932	D	0	.	11.3409	0.49533	0.864:0.0:0.0:0.136	.	425	Q9Y239	NOD1_HUMAN	C	425	ENSP00000222823:F425C	ENSP00000222823:F425C	F	-	2	0	NOD1	30458284	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	5.028000	0.64115	0.951000	0.37770	0.460000	0.39030	TTC	NOD1	-	pfscan_NACHT_NTPase	ENSG00000106100		0.617	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	HGNC	protein_coding	OTTHUMT00000250443.2	-	0	47	0	A			30491759	-1	tier1	-	no_errors	ENST00000222823	ensembl	human	known	74_37	missense	65.22	8	15	SNP	1.000	C	C	30491759	A	C	30491759	3	2	127	1	0	0	0	0	1	0	0	0	10555	246	9	4	1623	4	NOD1	7	30491759	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	9725096	30491759	128646904	101	32822											
GHRHR	2692	genome.wustl.edu	37	chr7	31003737	31003737	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcgtgttgagcccgttaccGaccgtgagtagccagctgag	7	9	14	11	4	0	3	0	3	0	0	0	4	0	3	4	0	5	4	4	0	2	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr7:31003737G>C	ENST00000326139.2	+	1	100	c.54G>C	c.(52-54)ccG>ccC	p.P18P		NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	18					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	GCCCGTTACCGACCGTGAGTA	0.652																																																	0													57	42	47					7																	31003737		1944	3676	5620	SO:0001819	synonymous_variant	0				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.54G>C	7.37:g.31003737G>C			Q99863	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1	p.P18	ENST00000326139.2	37	c.54	CCDS5432.1	7																																																																																			GHRHR	-	prints_GPCR_2_GHRH_rcpt	ENSG00000106128		0.652	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHRHR	HGNC	protein_coding	OTTHUMT00000327967.2	-	0	145	0	G			31003737	1	tier1	-	no_errors	ENST00000326139	ensembl	human	known	74_37	silent	30.00	105	45	SNP	0.000	C	C	31003737	G	C	31003737	2	2	127	1	0	0	0	0	0	0	0	1	6399	1045	37	5		5	GHRHR	7	31003737	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	511978	31003737	128134926	102	32823											
PURB	5814	genome.wustl.edu	37	chr7	44924094	44924094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaagcttatccctctgtCgttcctggatttctttcatc	7	17	5	12	1	3	0	1	0	2	0	7	1	5	1	2	1	1	2	2	1	3	5	rs140765435		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr7:44924094C>A	ENST00000395699.2	-	1	866	c.854G>T	c.(853-855)cGa>cTa	p.R285L	MIR4657_ENST00000578157.1_RNA|RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	285					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						ATCCCTCTGTCGTTCCTGGAT	0.587																																																	0													97	103	101					7																	44924094		2203	4300	6503	SO:0001583	missense	0				CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.854G>T	7.37:g.44924094C>A	ENSP00000379051:p.Arg285Leu		A4D2L7	Missense_Mutation	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.R285L	ENST00000395699.2	37	c.854	CCDS5499.1	7	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106157	0.77096	.	.	ENSG00000146676	ENST00000395699	T	0.32988	1.43	4.45	4.45	0.53987	.	0.000000	0.64402	U	0.000015	T	0.31136	0.0787	L	0.27053	0.805	0.47949	D	0.999555	D	0.56035	0.974	P	0.50934	0.654	T	0.02713	-1.1120	10	0.38643	T	0.18	.	14.983	0.71324	0.0:1.0:0.0:0.0	.	285	Q96QR8	PURB_HUMAN	L	285	ENSP00000379051:R285L	ENSP00000379051:R285L	R	-	2	0	PURB	44890619	0.118000	0.22208	0.966000	0.40874	0.967000	0.64934	2.558000	0.45879	2.465000	0.83290	0.591000	0.81541	CGA	PURB	-	NULL	ENSG00000146676		0.587	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PURB	HGNC	protein_coding	OTTHUMT00000251332.2	-	0	78	0	C	NM_033224		44924094	-1	tier1	-	no_errors	ENST00000395699	ensembl	human	known	74_37	missense	26.44	64	23	SNP	1.000	A	A	44924094	C	A	44924094	3	1	127	1	0	0	0	0	1	0	0	0	12873	884	31	2	88	2	PURB	7	44924094	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	13920357	44924094	114214569	103	32824											
TNS3	64759	genome.wustl.edu	37	chr7	47408054	47408054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgctgtctggagacacaGagccattggcctggctaccg	8	7	12	14	2	1	2	0	0	1	2	1	3	1	2	4	3	2	2	4	3	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr7:47408054G>T	ENST00000398879.1	-	17	2555	c.2189C>A	c.(2188-2190)tCt>tAt	p.S730Y	TNS3_ENST00000355730.3_Missense_Mutation_p.S490Y|TNS3_ENST00000311160.9_Missense_Mutation_p.S730Y			Q68CZ2	TENS3_HUMAN	tensin 3	730					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						TGGAGACACAGAGCCATTGGC	0.657																																																	0													82	95	91					7																	47408054		2034	4176	6210	SO:0001583	missense	0			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.2189C>A	7.37:g.47408054G>T	ENSP00000381854:p.Ser730Tyr		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S730Y	ENST00000398879.1	37	c.2189	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666476	0.29604	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94897	-3.08;-3.08;-3.55;-3.33	5.03	1.71	0.24356	.	2.760890	0.01040	N	0.004285	D	0.88698	0.6507	N	0.24115	0.695	0.09310	N	0.999998	P	0.49447	0.924	P	0.44732	0.459	T	0.79945	-0.1589	10	0.02654	T	1	-1.3555	3.6806	0.08309	0.2482:0.0:0.569:0.1828	.	730	Q68CZ2	TENS3_HUMAN	Y	730;840;730;490;186;833	ENSP00000312143:S730Y;ENSP00000381854:S730Y;ENSP00000347968:S490Y;ENSP00000414358:S833Y	ENSP00000312143:S730Y	S	-	2	0	TNS3	47374579	0.871000	0.30034	0.002000	0.10522	0.262000	0.26303	3.069000	0.50026	0.078000	0.16900	0.655000	0.94253	TCT	TNS3	-	NULL	ENSG00000136205		0.657	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	-	0	68	0	G	NM_022748		47408054	-1	tier1	-	no_errors	ENST00000311160	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.026	T	T	47408054	G	T	47408054	3	4	127	1	0	0	0	0	1	0	0	0	16391	942	33	3	2208	3	TNS3	7	47408054	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	2483960	47408054	111730609	104	32825											
POM121L12	285877	genome.wustl.edu	37	chr7	53103931	53103931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccagtgccccaagggaagCgctaggttcgacgggccgtt	8	6	15	12	4	0	0	0	0	0	0	1	2	0	1	4	3	3	3	4	3	3	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr7:53103931C>A	ENST00000408890.4	+	1	583	c.567C>A	c.(565-567)agC>agA	p.S189R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	189										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCAAGGGAAGCGCTAGGTTCG	0.701																																																	0													42	49	47					7																	53103931		1942	4128	6070	SO:0001583	missense	0				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.567C>A	7.37:g.53103931C>A	ENSP00000386133:p.Ser189Arg		Q8NDI9	Missense_Mutation	SNP	NULL	p.S189R	ENST00000408890.4	37	c.567	CCDS43584.1	7	.	.	.	.	.	.	.	.	.	.	C	3.044	-0.196934	0.06259	.	.	ENSG00000221900	ENST00000408890	T	0.11169	2.8	2.21	-4.42	0.03579	.	.	.	.	.	T	0.03220	0.0094	N	0.01874	-0.695	0.09310	N	1	P	0.45044	0.849	B	0.43508	0.422	T	0.16012	-1.0417	9	0.20519	T	0.43	.	2.8682	0.05608	0.5914:0.1608:0.1302:0.1177	.	189	Q8N7R1	P1L12_HUMAN	R	189	ENSP00000386133:S189R	ENSP00000386133:S189R	S	+	3	2	POM121L12	53071425	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.471000	0.06631	-2.294000	0.00663	-0.310000	0.09108	AGC	POM121L12	-	NULL	ENSG00000221900		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	HGNC	protein_coding	OTTHUMT00000342656.1	-	0	68	0	C	NM_182595		53103931	1	tier1	-	no_errors	ENST00000408890	ensembl	human	known	74_37	missense	16.67	65	13	SNP	0.000	A	A	53103931	C	A	53103931	3	1	127	1	0	0	0	0	1	0	0	0	12280	767	27	2	569	2	POM121L12	7	53103931	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	5695877	53103931	106034732	105	32826											
SMURF1	57154	genome.wustl.edu	37	chr7	98649881	98649881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtggtcggttctggggcGtctgtagtgaacctcgcaca	5	11	15	10	4	2	1	0	1	2	0	4	1	2	1	1	4	1	3	1	4	2	2	rs371859465		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr7:98649881G>A	ENST00000361125.1	-	7	987	c.668C>T	c.(667-669)aCg>aTg	p.T223M	SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Missense_Mutation_p.T223M	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	223					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GTTCTGGGGCGTCTGTAGTGA	0.582																																																	0													158	141	147					7																	98649881		2203	4300	6503	SO:0001583	missense	0			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.668C>T	7.37:g.98649881G>A	ENSP00000354621:p.Thr223Met		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.T223M	ENST00000361125.1	37	c.668	CCDS34690.1	7	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334475	0.60853	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.46063	1.19;0.88	5.55	4.66	0.58398	.	0.044155	0.85682	N	0.000000	T	0.28400	0.0702	L	0.34521	1.04	0.58432	D	0.999997	B;P;B	0.43542	0.005;0.81;0.003	B;B;B	0.30495	0.004;0.116;0.002	T	0.06770	-1.0808	10	0.41790	T	0.15	.	14.2963	0.66316	0.0719:0.0:0.9281:0.0	.	223;223;223	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	M	223	ENSP00000355326:T223M;ENSP00000354621:T223M	ENSP00000354621:T223M	T	-	2	0	SMURF1	98487817	1.000000	0.71417	0.983000	0.44433	0.979000	0.70002	4.531000	0.60602	1.335000	0.45486	0.650000	0.86243	ACG	SMURF1	-	NULL	ENSG00000198742		0.582	SMURF1-001	KNOWN	basic|CCDS	protein_coding	SMURF1	HGNC	protein_coding	OTTHUMT00000335001.2	-	0	39	0	G	NM_020429		98649881	-1	tier1	-	no_errors	ENST00000361125	ensembl	human	known	74_37	missense	21.62	58	16	SNP	0.999	A	A	98649881	G	A	98649881	3	1	127	1	0	0	0	0	1	0	0	0	14864	1145	40	1	1657	1	SMURF1	7	98649881	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	45545950	98649881	60488782	106	32827											
RINT1	60561	genome.wustl.edu	37	chr7	105189044	105189044	+	Missense_Mutation	SNP	T	T	C	0	1	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	agcaactcccagaaaaatacTctcttcctgcctccccttct	10	11	3	17	0	2	1	0	0	2	1	6	1	5	1	5	0	4	1	5	0	4	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr7:105189044T>C	ENST00000257700.2	+	7	1114	c.883T>C	c.(883-885)Tct>Cct	p.S295P		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	295	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				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						AGAAAAATACTCTCTTCCTGC	0.433																																																	0													196	170	179					7																	105189044		2203	4300	6503	SO:0001583	missense	0			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.883T>C	7.37:g.105189044T>C	ENSP00000257700:p.Ser295Pro		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	pfam_RINT1_TIP1	p.S295P	ENST00000257700.2	37	c.883	CCDS34726.1	7	.	.	.	.	.	.	.	.	.	.	T	11.59	1.685147	0.29872	.	.	ENSG00000135249	ENST00000257700	T	0.26660	1.72	5.78	4.63	0.57726	.	0.556576	0.21067	N	0.080721	T	0.19525	0.0469	L	0.43152	1.355	0.22571	N	0.99898	B	0.02656	0.0	B	0.01281	0.0	T	0.19484	-1.0304	10	0.29301	T	0.29	-7.345	6.422	0.21748	0.0:0.1048:0.3062:0.589	.	295	Q6NUQ1	RINT1_HUMAN	P	295	ENSP00000257700:S295P	ENSP00000257700:S295P	S	+	1	0	RINT1	104976280	0.657000	0.27393	1.000000	0.80357	0.963000	0.63663	0.979000	0.29500	1.001000	0.39076	0.528000	0.53228	TCT	RINT1	-	NULL	ENSG00000135249		0.433	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RINT1	HGNC	protein_coding	OTTHUMT00000348686.1	-	0	52	0	T	NM_021930		105189044	1	tier1	-	no_errors	ENST00000257700	ensembl	human	known	74_37	missense	25.93	40	14	SNP	0.998	C	C	105189044	T	C	105189044	3	2	127	1	0	0	0	0	1	0	0	0	13421	1551	54	4	909	4	RINT1	7	105189044	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	6539163	105189044	53949619	107	32828											
CNTNAP2	26047	genome.wustl.edu	37	chr7	147092722	147092722	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctgaaccagatgaataActcaagtcactctgtccttc	11	14	5	11	0	4	3	2	2	2	1	6	3	5	3	2	0	2	0	2	0	4	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr7:147092722A>C	ENST00000361727.3	+	10	2036	c.1520A>C	c.(1519-1521)aAc>aCc	p.N507T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	507	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGATGAATAACTCAAGTCAC	0.398										HNSCC(39;0.1)																																							0													171	162	165					7																	147092722		2203	4299	6502	SO:0001583	missense	0			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.1520A>C	7.37:g.147092722A>C	ENSP00000354778:p.Asn507Thr		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.N507T	ENST00000361727.3	37	c.1520	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	A	10.12	1.262586	0.23051	.	.	ENSG00000174469	ENST00000361727	T	0.77489	-1.1	5.26	2.63	0.31362	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.536625	0.18107	N	0.151494	T	0.48642	0.1511	N	0.01668	-0.77	0.80722	D	1	B	0.22146	0.065	B	0.30251	0.113	T	0.26573	-1.0099	10	0.15499	T	0.54	.	7.143	0.25566	0.7439:0.1593:0.0968:0.0	.	507	Q9UHC6	CNTP2_HUMAN	T	507	ENSP00000354778:N507T	ENSP00000354778:N507T	N	+	2	0	CNTNAP2	146723655	1.000000	0.71417	0.946000	0.38457	0.996000	0.88848	2.146000	0.42216	0.878000	0.35920	0.477000	0.44152	AAC	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000174469		0.398	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	-	0	61	0	A			147092722	1	tier1	-	no_errors	ENST00000361727	ensembl	human	known	74_37	missense	24.53	80	26	SNP	0.972	C	C	147092722	A	C	147092722	3	2	127	1	0	0	0	0	1	0	0	0	3654	43	2	4	1558	4	CNTNAP2	7	147092722	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	41903678	147092722	12045941	108	32829											
ST18	9705	genome.wustl.edu	37	chr8	53025816	53025816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagagctttgcattccGgggaatagtcccgttccaga	9	10	11	11	2	0	2	0	0	0	2	3	3	3	3	4	2	2	4	4	2	3	5	rs533229892		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr8:53025816G>A	ENST00000276480.7	-	26	3769	c.3086C>T	c.(3085-3087)cCg>cTg	p.P1029L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1029					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)				TTTGCATTCCGGGGAATAGTC	0.448													G|||	1	0.000199681	0	0.0014	5008	,	,		18756	0		0	False		,,,				2504	0																0													168	146	154					8																	53025816		2203	4300	6503	SO:0001583	missense	0			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.3086C>T	8.37:g.53025816G>A	ENSP00000276480:p.Pro1029Leu		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.P1029L	ENST00000276480.7	37	c.3086	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.541459	0.96474	.	.	ENSG00000147488	ENST00000276480	T	0.56444	0.46	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73811	-0.3865	10	0.87932	D	0	-13.9925	20.417	0.99027	0.0:0.0:1.0:0.0	.	1029	O60284	ST18_HUMAN	L	1029	ENSP00000276480:P1029L	ENSP00000276480:P1029L	P	-	2	0	ST18	53188369	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.832000	0.97577	0.585000	0.79938	CCG	ST18	-	NULL	ENSG00000147488		0.448	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	-	0	54	0	G			53025816	-1	tier1	-	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	46.97	35	31	SNP	1.000	A	A	53025816	G	A	53025816	3	1	127	1	0	0	0	0	1	0	0	0	15259	1116	39	1	61	1	ST18	8	53025816	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09		53025816	93338206	109	32830											
CSMD3	114788	genome.wustl.edu	37	chr8	113563014	113563014	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aataagagatccactaatttCctttaaaagcatatcatttt	16	15	3	7	0	1	1	1	0	0	1	3	2	3	1	2	0	1	1	2	0	6	8			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr8:113563014C>A	ENST00000297405.5	-	27	4694	c.4450G>T	c.(4450-4452)Gaa>Taa	p.E1484*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.E1380*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E1444*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E1484*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1484	CUB 8. {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						CCACTAATTTCCTTTAAAAGC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													77	76	76					8																	113563014		2203	4300	6503	SO:0001587	stop_gained	0			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.4450G>T	8.37:g.113563014C>A	ENSP00000297405:p.Glu1484*		Q96PZ3	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.E1484*	ENST00000297405.5	37	c.4450	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	46	12.384200	0.99663	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.36	4.36	0.52297	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	17.4138	0.87494	0.0:1.0:0.0:0.0	.	.	.	.	X	1444;1484;824;1380;1484	.	ENSP00000297405:E1484X	E	-	1	0	CSMD3	113632190	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.609000	0.82925	2.412000	0.81896	0.591000	0.81541	GAA	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	76	0	C	NM_052900		113563014	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	nonsense	30.89	84	38	SNP	1.000	A	A	113563014	C	A	113563014	4	1	127	1	0	0	0	0	0	1	0	0	3955	864	30	3	6853	3	CSMD3	8	113563014	Nonsense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	60537198	113563014	32801008	110	32831											
ATAD2	29028	genome.wustl.edu	37	chr8	124358392	124358392	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggaatgtctaatgtataTacagtaaacttttccaaagc	16	12	6	7	0	1	0	0	0	1	0	2	1	2	1	1	1	3	2	1	1	8	7			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr8:124358392T>C	ENST00000287394.5	-	18	2573	c.2466A>G	c.(2464-2466)gtA>gtG	p.V822V	MIR548AA1_ENST00000384971.2_RNA|ATAD2_ENST00000521903.1_Silent_p.V140V	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	822					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTAATGTATATACAGTAAACT	0.398																																																	0													98	96	96					8																	124358392		2203	4300	6503	SO:0001819	synonymous_variant	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2466A>G	8.37:g.124358392T>C			Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V822	ENST00000287394.5	37	c.2466	CCDS6343.1	8																																																																																			ATAD2	-	superfamily_P-loop_NTPase	ENSG00000156802		0.398	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	-	0	70	0	T	NM_014109		124358392	-1	tier1	-	no_errors	ENST00000287394	ensembl	human	known	74_37	silent	41.30	54	38	SNP	0.463	C	C	124358392	T	C	124358392	2	2	127	1	0	0	0	0	0	0	0	1	1072	1393	49	4		4	ATAD2	8	124358392	Silent	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	10795378	124358392	22005630	111	32832											
TESK1	7016	genome.wustl.edu	37	chr9	35609251	35609251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgctgtgggcccctcggctGaagagaagatggagtgcgag	8	6	17	10	3	0	3	0	1	0	2	1	6	0	4	3	3	1	2	3	3	2	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr9:35609251G>A	ENST00000336395.5	+	10	1643	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	465					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)			CCCCTCGGCTGAAGAGAAGAT	0.687																																																	0													41	47	45					9																	35609251		2203	4299	6502	SO:0001583	missense	0			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.1393G>A	9.37:g.35609251G>A	ENSP00000338127:p.Glu465Lys		Q8IXZ8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E465K	ENST00000336395.5	37	c.1393	CCDS6580.1	9	.	.	.	.	.	.	.	.	.	.	G	12.76	2.036042	0.35893	.	.	ENSG00000107140	ENST00000336395	T	0.70516	-0.49	5.16	4.26	0.50523	.	0.000000	0.45867	D	0.000336	T	0.49253	0.1546	N	0.14661	0.345	0.22996	N	0.998454	B;B	0.21452	0.056;0.027	B;B	0.17722	0.019;0.006	T	0.25537	-1.0129	10	0.12766	T	0.61	-4.4542	10.7359	0.46124	0.0883:0.0:0.9117:0.0	.	383;465	B4DQQ3;Q15569	.;TESK1_HUMAN	K	465	ENSP00000338127:E465K	ENSP00000338127:E465K	E	+	1	0	TESK1	35599251	1.000000	0.71417	0.616000	0.29078	0.793000	0.44817	4.754000	0.62191	1.394000	0.46624	0.655000	0.94253	GAA	TESK1	-	NULL	ENSG00000107140		0.687	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK1	HGNC	protein_coding	OTTHUMT00000052314.1	-	0	43	0	G	NM_006285		35609251	1	tier1	-	no_errors	ENST00000336395	ensembl	human	known	74_37	missense	24.14	44	14	SNP	0.275	A	A	35609251	G	A	35609251	3	1	127	1	0	0	0	0	1	0	0	0	15814	1291	45	3	1431	3	TESK1	9	35609251	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09		35609251	105604180	112	32833											
TLE1	7088	genome.wustl.edu	37	chr9	84249102	84249102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actagacagcgcaagaaggcCggcactgcccccgaggggcg	10	2	15	14	4	0	2	0	0	0	2	0	3	0	2	3	4	2	2	3	4	3	1	rs143365960	byFrequency	TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr9:84249102C>T	ENST00000376499.3	-	7	1551	c.487G>A	c.(487-489)Ggc>Agc	p.G163S	TLE1_ENST00000376463.1_Missense_Mutation_p.G107S|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	163	Gly/Pro-rich.				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						GCAAGAAGGCCGGCACTGCCC	0.597																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												0								C	SER/GLY	2,4402		0,2,2200	21	19	20		487	4.8	1	9	dbSNP_134	20	3,8595		0,3,4296	yes	missense	TLE1	NM_005077.3	56	0,5,6496	TT,TC,CC		0.0349,0.0454,0.0385	benign	163/771	84249102	5,12997	2202	4299	6501	SO:0001583	missense	0				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.487G>A	9.37:g.84249102C>T	ENSP00000365682:p.Gly163Ser		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.G163S	ENST00000376499.3	37	c.487	CCDS6661.1	9	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425382	0.83667	4.54E-4	3.49E-4	ENSG00000196781	ENST00000376499;ENST00000355002;ENST00000418319;ENST00000376463	T;T;T	0.58940	0.51;0.91;0.3	5.7	4.76	0.60689	.	0.133963	0.51477	N	0.000090	T	0.51652	0.1687	M	0.69823	2.125	0.80722	D	1	B;B;P;B;P	0.42584	0.098;0.081;0.784;0.366;0.56	B;B;B;B;B	0.34385	0.02;0.013;0.181;0.023;0.124	T	0.54390	-0.8301	10	0.40728	T	0.16	-13.6867	10.8836	0.46953	0.0:0.9015:0.0:0.0985	.	163;173;190;173;163	B4DEF9;A6NFH2;Q59EF7;Q5T3G3;Q04724	.;.;.;.;TLE1_HUMAN	S	163;173;173;107	ENSP00000365682:G163S;ENSP00000391347:G173S;ENSP00000365646:G107S	ENSP00000347102:G173S	G	-	1	0	TLE1	83438922	1.000000	0.71417	0.989000	0.46669	0.979000	0.70002	4.672000	0.61597	1.282000	0.44496	0.655000	0.94253	GGC	TLE1	-	NULL	ENSG00000196781		0.597	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	HGNC	protein_coding	OTTHUMT00000055407.1	-	0	65	0	C	NM_005077		84249102	-1	tier1	rs143365960	no_errors	ENST00000376499	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	84249102	C	T	84249102	3	4	127	1	0	0	0	0	1	0	0	0	15985	652	23	1	1881	1	TLE1	9	84249102	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	48639851	84249102	56964329	113	32834											
SMC2	10592	genome.wustl.edu	37	chr9	106860801	106860801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagagtacaggatctcttCtgttctgttggccttaatgt	8	15	9	9	0	3	1	0	0	3	1	4	2	3	2	2	2	1	3	2	2	2	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr9:106860801C>T	ENST00000286398.7	+	4	681	c.393C>T	c.(391-393)ttC>ttT	p.F131F	SMC2_ENST00000374787.3_Silent_p.F131F|SMC2_ENST00000374793.3_Silent_p.F131F|SMC2_ENST00000303219.8_Silent_p.F131F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	131					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGGATCTCTTCTGTTCTGTTG	0.333																																																	0													207	197	201					9																	106860801		2203	4300	6503	SO:0001819	synonymous_variant	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.393C>T	9.37:g.106860801C>T			Q6IEE0|Q9P1P2	Silent	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.F131	ENST00000286398.7	37	c.393	CCDS35086.1	9																																																																																			SMC2	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000136824		0.333	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	-	0	48	0	C			106860801	1	tier1	-	no_errors	ENST00000286398	ensembl	human	known	74_37	silent	63.16	21	36	SNP	1.000	T	T	106860801	C	T	106860801	2	4	127	1	0	0	0	0	0	0	0	1	14828	912	32	3		3	SMC2	9	106860801	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	22611699	106860801	34352630	114	32835											
FAM129B	64855	genome.wustl.edu	37	chr9	130286098	130286098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtggggcacttgaggatgGgggcactgcccgactttgcc	5	9	17	10	1	0	1	0	1	0	0	0	3	0	2	2	5	2	2	2	5	0	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr9:130286098G>A	ENST00000373312.3	-	5	662	c.449C>T	c.(448-450)cCc>cTc	p.P150L	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.P137L	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	150	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTTGAGGATGGGGGCACTGCC	0.582											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													121	108	112					9																	130286098		2203	4300	6503	SO:0001583	missense	0			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.449C>T	9.37:g.130286098G>A	ENSP00000362409:p.Pro150Leu	1579	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	pfscan_Pleckstrin_homology	p.P150L	ENST00000373312.3	37	c.449	CCDS35145.1	9	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334215	0.81801	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.15834	2.39;2.39	5.42	5.42	0.78866	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.115346	0.64402	D	0.000014	T	0.35566	0.0936	M	0.71036	2.16	0.58432	D	0.999999	D;D	0.61080	0.989;0.989	P;P	0.59424	0.857;0.857	T	0.07065	-1.0792	10	0.72032	D	0.01	-37.5813	11.7781	0.51997	0.0:0.0:0.8245:0.1755	.	137;150	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	L	137;150	ENSP00000362411:P137L;ENSP00000362409:P150L	ENSP00000362409:P150L	P	-	2	0	FAM129B	129325919	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	6.129000	0.71657	2.551000	0.86045	0.561000	0.74099	CCC	FAM129B	-	pfscan_Pleckstrin_homology	ENSG00000136830		0.582	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129B	HGNC	protein_coding	OTTHUMT00000054196.1	-	0	39	0	G	NM_022833		130286098	-1	tier1	-	no_errors	ENST00000373312	ensembl	human	known	74_37	missense	55.00	9	11	SNP	1.000	A	A	130286098	G	A	130286098	3	1	127	1	0	0	0	0	1	0	0	0	5456	1232	43	3	1831	3	FAM129B	9	130286098	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	23425297	130286098	10927333	115	32836											
PRTFDC1	56952	genome.wustl.edu	37	chr10	25138797	25138797	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgatatttttctttaccGtgctcattgatgacgcatat	9	17	6	9	3	2	2	1	2	1	0	3	3	2	2	1	0	2	2	1	0	3	7			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr10:25138797G>C	ENST00000320152.6	-	9	682	c.654C>G	c.(652-654)caC>caG	p.H218Q	PRTFDC1_ENST00000376378.1_3'UTR	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	218					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TTTCTTTACCGTGCTCATTGA	0.378																																																	0													215	183	194					10																	25138797		2203	4300	6503	SO:0001583	missense	0			AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.654C>G	10.37:g.25138797G>C	ENSP00000318602:p.His218Gln		B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans	p.H218Q	ENST00000320152.6	37	c.654	CCDS7145.1	10	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027766	0.19512	.	.	ENSG00000099256	ENST00000320152	D	0.98732	-5.1	5.55	-0.785	0.10950	.	0.445596	0.26227	N	0.025586	D	0.93177	0.7827	N	0.11201	0.11	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.82725	-0.0315	10	0.32370	T	0.25	.	6.9128	0.24344	0.5522:0.0:0.2849:0.1629	.	218	Q9NRG1	PRDC1_HUMAN	Q	218	ENSP00000318602:H218Q	ENSP00000318602:H218Q	H	-	3	2	PRTFDC1	25178803	0.007000	0.16637	0.938000	0.37757	0.974000	0.67602	-1.711000	0.01886	-0.390000	0.07774	0.563000	0.77884	CAC	PRTFDC1	-	NULL	ENSG00000099256		0.378	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTFDC1	HGNC	protein_coding	OTTHUMT00000047243.2	-	0	35	0	G	NM_020200		25138797	-1	tier1	-	no_errors	ENST00000320152	ensembl	human	known	74_37	missense	24.39	31	10	SNP	0.922	C	C	25138797	G	C	25138797	3	2	127	1	0	0	0	0	1	0	0	0	12679	1136	40	5	27	5	PRTFDC1	10	25138797	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09		25138797	110395950	116	32837											
MAP3K8	1326	genome.wustl.edu	37	chr10	30739243	30739243	+	Silent	SNP	C	C	T	0	0	0	1	1	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	atccaggcttgcttccggcaCgagaacatcgcagagctgta	10	8	11	12	3	0	2	0	0	0	2	3	3	2	2	2	2	3	6	2	2	2	3	rs569267728		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr10:30739243C>T	ENST00000263056.1	+	5	1257	c.561C>T	c.(559-561)caC>caT	p.H187H	MAP3K8_ENST00000542547.1_Silent_p.H187H|MAP3K8_ENST00000375321.1_Silent_p.H187H	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				GCTTCCGGCACGAGAACATCG	0.478																																																	0													108	106	106					10																	30739243		2203	4300	6503	SO:0001819	synonymous_variant	0			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.561C>T	10.37:g.30739243C>T			A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H187	ENST00000263056.1	37	c.561	CCDS7166.1	10	.	.	.	.	.	.	.	.	.	.	C	8.037	0.763043	0.15914	.	.	ENSG00000107968	ENST00000430603	.	.	.	5.06	-4.36	0.03645	.	.	.	.	.	T	0.63082	0.2481	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62937	-0.6748	4	.	.	.	.	14.4608	0.67448	0.0:0.3902:0.0:0.6098	.	.	.	.	M	108	.	.	T	+	2	0	MAP3K8	30779249	0.000000	0.05858	0.964000	0.40570	0.748000	0.42578	-2.597000	0.00894	-0.839000	0.04212	-0.143000	0.13931	ACG	MAP3K8	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000107968		0.478	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAP3K8	HGNC	protein_coding	OTTHUMT00000047416.2	-	0	58	0	C	NM_005204		30739243	1	tier1	-	no_errors	ENST00000263056	ensembl	human	known	74_37	silent	21.28	37	10	SNP	0.972	T	T	30739243	C	T	30739243	2	4	127	1	0	0	0	0	0	0	0	1	9294	535	19	1		1	MAP3K8	10	30739243	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	5600446	30739243	104795504	117	32838											
ZNF37A	7587	genome.wustl.edu	37	chr10	38406851	38406851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagtgaaaaattagtcCttcatttacaacagagaaca	16	13	5	7	0	2	2	2	1	0	1	3	3	3	2	1	0	3	0	1	0	6	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr10:38406851C>A	ENST00000361085.5	+	7	1117	c.772C>A	c.(772-774)Ctt>Att	p.L258I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.L258I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAAATTAGTCCTTCATTTACA	0.363																																																	0													62	66	64					10																	38406851		2203	4299	6502	SO:0001583	missense	0			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.772C>A	10.37:g.38406851C>A	ENSP00000354377:p.Leu258Ile		B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L258I	ENST00000361085.5	37	c.772	CCDS31183.1	10	.	.	.	.	.	.	.	.	.	.	C	1.895	-0.454432	0.04540	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.17691	2.26;2.26	2.01	-0.225	0.13111	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23532	0.0569	M	0.90650	3.135	0.09310	N	1	B	0.13145	0.007	B	0.20955	0.032	T	0.41484	-0.9506	9	0.72032	D	0.01	.	2.702	0.05152	0.2675:0.5145:0.0:0.2179	.	258	P17032	ZN37A_HUMAN	I	258	ENSP00000329141:L258I;ENSP00000354377:L258I	ENSP00000329141:L258I	L	+	1	0	ZNF37A	38446857	0.003000	0.15002	0.001000	0.08648	0.015000	0.08874	-0.046000	0.11983	-0.058000	0.13177	-0.282000	0.10007	CTT	ZNF37A	-	pfscan_Znf_C2H2	ENSG00000075407		0.363	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	HGNC	protein_coding	OTTHUMT00000047624.2	-	0	66	0	C	NM_003421		38406851	1	tier1	-	no_errors	ENST00000351773	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.002	A	A	38406851	C	A	38406851	3	1	127	1	0	0	0	0	1	0	0	0	17920	681	24	3	786	3	ZNF37A	10	38406851	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	7667608	38406851	97127896	118	32839											
CHAT	1103	genome.wustl.edu	37	chr10	50835782	50835782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattggcctgctgacGtctgacgggaggagcgagtg	7	8	15	11	3	1	2	0	2	1	0	2	5	2	4	3	3	2	1	3	3	1	1	rs529337162	byFrequency	TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr10:50835782G>A	ENST00000337653.2	+	7	1215	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	CHAT_ENST00000455728.2_Silent_p.T236T|CHAT_ENST00000395559.2_Silent_p.T236T|CHAT_ENST00000339797.1_Silent_p.T236T|CHAT_ENST00000351556.3_Silent_p.T236T|CHAT_ENST00000395562.2_Silent_p.T272T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	354					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)	GCCTGCTGACGTCTGACGGGA	0.592													G|||	8	0.00159744	0	0	5008	,	,		21417	0		0	False		,,,				2504	0.0082																0													99	82	88					10																	50835782		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1062G>A	10.37:g.50835782G>A			A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	pfam_Carn_acyl_trans	p.T354	ENST00000337653.2	37	c.1062	CCDS7232.1	10																																																																																			CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.592	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1		0	46	0	G	NM_020549		50835782	1			no_errors	ENST00000337653	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.736	A	A	50835782	G	A	50835782	2	1	127	1	0	0	0	0	0	0	0	1	3320	1132	40	1		1	CHAT	10	50835782	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	12428931	50835782	84698965	119	32840											
HERC4	26091	genome.wustl.edu	37	chr10	69751986	69751986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggaaaccttccagaaGgatagctcagccatttctga	13	8	8	12	0	2	2	1	1	1	1	3	4	3	4	4	2	3	1	4	2	3	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr10:69751986G>C	ENST00000395198.3	-	11	1488	c.1241C>G	c.(1240-1242)cCt>cGt	p.P414R	HERC4_ENST00000277817.6_Missense_Mutation_p.P304R|HERC4_ENST00000412272.2_Missense_Mutation_p.P414R|HERC4_ENST00000373700.4_Missense_Mutation_p.P414R|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	414					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CCTTCCAGAAGGATAGCTCAG	0.483																																																	0													110	95	100					10																	69751986		2203	4300	6503	SO:0001583	missense	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1241C>G	10.37:g.69751986G>C	ENSP00000378624:p.Pro414Arg		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.P414R	ENST00000395198.3	37	c.1241	CCDS41533.1	10	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577039	0.28092	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.44482	1.18;0.92;0.93;0.93	5.25	5.25	0.73442	.	0.487986	0.24935	N	0.034434	T	0.34658	0.0905	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.20459	0.045;0.0;0.013;0.022;0.013	B;B;B;B;B	0.24848	0.04;0.001;0.025;0.056;0.025	T	0.08785	-1.0705	10	0.23302	T	0.38	.	17.0279	0.86453	0.0:0.0:1.0:0.0	.	414;414;264;414;414	Q5GLZ8-3;A8K9U4;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	R	304;414;414;414	ENSP00000277817:P304R;ENSP00000416504:P414R;ENSP00000378624:P414R;ENSP00000362804:P414R	ENSP00000277817:P304R	P	-	2	0	HERC4	69421992	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.968000	0.76086	2.437000	0.82529	0.650000	0.86243	CCT	HERC4	-	NULL	ENSG00000148634		0.483	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	-	0	40	0	G	NM_015601		69751986	-1	tier1	-	no_errors	ENST00000395198	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	C	C	69751986	G	C	69751986	3	2	127	1	0	0	0	0	1	0	0	0	7087	1000	35	5	1996	5	HERC4	10	69751986	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	18916204	69751986	65782761	120	32841											
TNKS2	80351	genome.wustl.edu	37	chr10	93609336	93609336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgagcacctaatggatatAtttgagagagaacaggtgag	14	10	12	5	0	0	4	0	3	0	2	0	7	0	5	1	2	2	1	1	2	4	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr10:93609336A>G	ENST00000371627.4	+	20	3058	c.2679A>G	c.(2677-2679)atA>atG	p.I893M		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	893	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TAATGGATATATTTGAGAGAG	0.333																																																	0													105	101	102					10																	93609336		2203	4300	6503	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2679A>G	10.37:g.93609336A>G	ENSP00000360689:p.Ile893Met		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.I893M	ENST00000371627.4	37	c.2679	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237397	0.58886	.	.	ENSG00000107854	ENST00000371627	D	0.85013	-1.93	5.22	4.06	0.47325	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.086444	0.49916	D	0.000140	D	0.87071	0.6086	M	0.69823	2.125	0.44711	D	0.997702	P	0.48294	0.908	P	0.53062	0.717	D	0.85092	0.0952	10	0.46703	T	0.11	.	7.3501	0.26686	0.5898:0.2759:0.0:0.1344	.	893	Q9H2K2	TNKS2_HUMAN	M	893	ENSP00000360689:I893M	ENSP00000360689:I893M	I	+	3	3	TNKS2	93599316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.034000	0.49751	0.895000	0.36342	0.477000	0.44152	ATA	TNKS2	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000107854		0.333	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	-	0	36	0	A	NM_025235		93609336	1	tier1	-	no_errors	ENST00000371627	ensembl	human	known	74_37	missense	32.08	36	17	SNP	1.000	G	G	93609336	A	G	93609336	3	3	127	1	0	0	0	0	1	0	0	0	16368	439	16	4	2757	4	TNKS2	10	93609336	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	23857350	93609336	41925411	121	32842											
VWA2	340706	genome.wustl.edu	37	chr10	116048824	116048824	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cagtttgaggtgaaccctgaCgtgacacaggtcggcctggt	8	9	14	10	2	0	4	0	4	0	0	1	4	0	4	2	4	1	1	2	4	1	1	rs199884277		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr10:116048824C>T	ENST00000392982.3	+	12	1948	c.1698C>T	c.(1696-1698)gaC>gaT	p.D566D	VWA2_ENST00000603594.1_Silent_p.D566D			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	566	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TGAACCCTGACGTGACACAGG	0.592																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	72	66	68		1698	-7.7	0.3	10		68	0,8600		0,0,4300	no	coding-synonymous	VWA2	NM_198496.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		566/726	116048824	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1698C>T	10.37:g.116048824C>T			A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.D566	ENST00000392982.3	37	c.1698		10																																																																																			VWA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000165816		0.592	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	-	0	45	0	C	NM_198496		116048824	1	tier1	rs199884277	no_errors	ENST00000392982	ensembl	human	known	74_37	silent	10.00	44	5	SNP	0.363	T	T	116048824	C	T	116048824	2	4	127	1	0	0	0	0	0	0	0	1	17288	535	19	1		1	VWA2	10	116048824	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	22439488	116048824	19485923	122	32843											
OAT	4942	genome.wustl.edu	37	chr10	126097428	126097428	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaatttgtccacttgactCttcagagcattcacaatctt	10	15	5	11	0	5	2	3	1	2	1	6	2	6	2	1	0	1	1	1	0	2	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr10:126097428C>T	ENST00000368845.5	-	3	398	c.306G>A	c.(304-306)aaG>aaA	p.K102K	OAT_ENST00000467675.1_5'Flank|OAT_ENST00000539214.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	102					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)	CCACTTGACTCTTCAGAGCAT	0.378																																																	0													96	94	95					10																	126097428		2203	4300	6503	SO:0001819	synonymous_variant	0			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.306G>A	10.37:g.126097428C>T			D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans	p.K102	ENST00000368845.5	37	c.306	CCDS7639.1	10																																																																																			OAT	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans	ENSG00000065154		0.378	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	-	0	98	0	C	NM_000274		126097428	-1	tier1	-	no_errors	ENST00000368845	ensembl	human	known	74_37	silent	40.45	52	36	SNP	0.021	T	T	126097428	C	T	126097428	2	4	127	1	0	0	0	0	0	0	0	1	10842	912	32	3		3	OAT	10	126097428	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	10048604	126097428	9437319	123	32844											
ADAM12	8038	genome.wustl.edu	37	chr10	127708373	127708373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggcagaggcttctgagGggggtttggcttacaggtcc	6	10	17	8	0	1	2	0	1	1	1	2	2	2	2	1	7	2	5	1	7	1	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr10:127708373G>C	ENST00000368679.4	-	22	2869	c.2560C>G	c.(2560-2562)Cct>Gct	p.P854A		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	854					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGCTTCTGAGGGGGGTTTGGC	0.617																																																	0													37	38	38					10																	127708373		2203	4300	6503	SO:0001583	missense	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2560C>G	10.37:g.127708373G>C	ENSP00000357668:p.Pro854Ala		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P854A	ENST00000368679.4	37	c.2560	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288281	0.80803	.	.	ENSG00000148848	ENST00000368679	T	0.03663	3.85	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.19604	0.0471	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00106	-1.2055	10	0.72032	D	0.01	.	16.905	0.86124	0.0:0.0:1.0:0.0	.	854	O43184	ADA12_HUMAN	A	854	ENSP00000357668:P854A	ENSP00000357668:P854A	P	-	1	0	ADAM12	127698363	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.288000	0.72679	2.510000	0.84645	0.650000	0.86243	CCT	ADAM12	-	NULL	ENSG00000148848		0.617	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	-	0	102	0	G			127708373	-1	tier1	-	no_errors	ENST00000368679	ensembl	human	known	74_37	missense	21.00	79	21	SNP	1.000	C	C	127708373	G	C	127708373	3	2	127	1	0	0	0	0	1	0	0	0	236	1232	43	5	177	5	ADAM12	10	127708373	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	1610945	127708373	7826374	124	32845											
MUC6	4588	genome.wustl.edu	37	chr11	1027330	1027330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttgtaaccctccagtatGcacgggcactgggccttgcg	8	9	11	13	2	0	0	0	0	0	0	1	0	1	0	3	2	4	4	3	2	3	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:1027330G>A	ENST00000421673.2	-	17	2219	c.2169C>T	c.(2167-2169)tgC>tgT	p.C723C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	723					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)		CCTCCAGTATGCACGGGCACT	0.652																																																	0													126	147	140					11																	1027330		2167	4249	6416	SO:0001819	synonymous_variant	0			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.2169C>T	11.37:g.1027330G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.C723	ENST00000421673.2	37	c.2169	CCDS44513.1	11																																																																																			MUC6	-	NULL	ENSG00000184956		0.652	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2		0	79	0	G	XM_290540		1027330	-1			no_errors	ENST00000421673	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.991	A	A	1027330	G	A	1027330	2	1	127	1	0	0	0	0	0	0	0	1	10018	1311	46	3		3	MUC6	11	1027330	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09		1027330	133979186	125	32846											
HBG2	3048	genome.wustl.edu	37	chr11	5275727	5275727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagaacctctgggtccatGggtagacaaccaggagcctg	12	6	12	11	0	1	2	0	0	1	2	2	3	2	3	4	3	3	1	4	3	4	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:5275727G>T	ENST00000380259.2	-	7	1350	c.110C>A	c.(109-111)cCa>cAa	p.P37Q	HBG2_ENST00000336906.4_Missense_Mutation_p.P37Q|HBG2_ENST00000380252.1_Missense_Mutation_p.P27Q			P69892	HBG2_HUMAN	hemoglobin, gamma G	37					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGTCCATGGGTAGACAAC	0.532																																																	0													41	37	39					11																	5275727		2200	4272	6472	SO:0001583	missense	0			BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.110C>A	11.37:g.5275727G>T	ENSP00000369609:p.Pro37Gln		A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.P37Q	ENST00000380259.2	37	c.110	CCDS7755.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049759	0.75846	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	D;D;D	0.99113	-5.44;-5.44;-5.44	3.88	3.88	0.44766	Globin-like (2);Globin, structural domain (2);	.	.	.	.	D	0.99554	0.9840	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.97606	1.0126	9	0.87932	D	0	.	14.93	0.70908	0.0:0.0:1.0:0.0	.	37;37	P69892;P69891	HBG2_HUMAN;HBG1_HUMAN	Q	27;37;37;37	ENSP00000369602:P27Q;ENSP00000369609:P37Q;ENSP00000338082:P37Q	ENSP00000338082:P37Q	P	-	2	0	HBG2	5232303	1.000000	0.71417	0.794000	0.32065	0.998000	0.95712	7.341000	0.79300	2.128000	0.65567	0.650000	0.86243	CCA	HBG2	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	ENSG00000196565		0.532	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBG2	HGNC	protein_coding	OTTHUMT00000142967.2		0	92	0	G	NM_000184		5275727	-1			no_errors	ENST00000336906	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	5275727	G	T	5275727	3	4	127	1	0	0	0	0	1	0	0	0	7010	1348	47	3	341	3	HBG2	11	5275727	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	4248397	5275727	129730789	126	32847											
OR5B3	441608	genome.wustl.edu	37	chr11	58170145	58170145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagtcccatagaagatgccGactgcaatgaaatgagaggc	15	7	11	8	1	0	4	0	2	0	3	1	6	1	4	2	1	2	1	2	1	5	2	rs78975225	byFrequency	TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:58170145G>A	ENST00000309403.2	-	1	737	c.738C>T	c.(736-738)gtC>gtT	p.V246V		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V246V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGAAGATGCCGACTGCAATGA	0.428													g|||	33	0.00658946	0.0234	0.0029	5008	,	,		22426	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	skin(1)						A		94,4308	76.2+/-114.5	0,94,2107	86	86	86		738	-7	0	11	dbSNP_131	86	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	OR5B3	NM_001005469.1		0,96,6400	AA,AG,GG		0.0233,2.1354,0.7389		246/315	58170145	96,12896	2201	4295	6496	SO:0001819	synonymous_variant	0			AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.738C>T	11.37:g.58170145G>A			Q6IEV6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V246	ENST00000309403.2	37	c.738	CCDS31549.1	11																																																																																			OR5B3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172769		0.428	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B3	HGNC	protein_coding	OTTHUMT00000394886.1		0	59	0	G	NM_001005469		58170145	-1			no_errors	ENST00000309403	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.000	A	A	58170145	G	A	58170145	2	1	127	1	0	0	0	0	0	0	0	1	11191	1045	37	1		1	OR5B3	11	58170145	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	52894418	58170145	76836371	127	32848											
EML3	256364	genome.wustl.edu	37	chr11	62379057	62379057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactggagggcctcccgagCagggccgtcacctgggaaaa	10	4	15	12	2	1	1	1	0	0	1	2	4	2	3	4	4	1	1	4	4	2	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:62379057C>T	ENST00000394773.2	-	2	341	c.34G>A	c.(34-36)Gct>Act	p.A12T	EML3_ENST00000494176.2_5'UTR|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.A12T|EML3_ENST00000531557.1_5'Flank|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.A12T	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	12						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						GCCTCCCGAGCAGGGCCGTCA	0.587																																																	0													19	20	20					11																	62379057		2202	4297	6499	SO:0001583	missense	0			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.34G>A	11.37:g.62379057C>T	ENSP00000378254:p.Ala12Thr		Q6ZQW7|Q8NA55	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A12T	ENST00000394773.2	37	c.34	CCDS8023.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.32|16.32	3.090087|3.090087	0.55968|0.55968	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000529309|ENST00000394776	T;T;T|.	0.27890|.	1.79;1.75;1.64|.	3.55|3.55	1.66|1.66	0.24008|0.24008	.|.	0.339424|.	0.20319|.	U|.	0.094661|.	T|T	0.23289|0.23289	0.0563|0.0563	N|N	0.24115|0.24115	0.695|0.695	0.25355|0.25355	N|N	0.988837|0.988837	B;B|.	0.10296|.	0.003;0.001|.	B;B|.	0.10450|.	0.005;0.001|.	T|T	0.23476|0.23476	-1.0187|-1.0187	10|5	0.62326|.	D|.	0.03|.	-1.6662|-1.6662	5.6302|5.6302	0.17506|0.17506	0.0:0.7486:0.0:0.2514|0.0:0.7486:0.0:0.2514	.|.	12;12|.	Q32P44-2;Q32P44|.	.;EMAL3_HUMAN|.	T|Y	12|5	ENSP00000378254:A12T;ENSP00000278845:A12T;ENSP00000434513:A12T|.	ENSP00000278845:A12T|.	A|C	-|-	1|2	0|0	EML3|EML3	62135633|62135633	0.003000|0.003000	0.15002|0.15002	0.998000|0.998000	0.56505|0.56505	0.890000|0.890000	0.51754|0.51754	0.006000|0.006000	0.13152|0.13152	0.500000|0.500000	0.27991|0.27991	0.462000|0.462000	0.41574|0.41574	GCT|TGC	EML3	-	NULL	ENSG00000149499		0.587	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	-	0	72	0	C	NM_153265		62379057	-1	tier1	-	no_errors	ENST00000529309	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.995	T	T	62379057	C	T	62379057	3	4	127	1	0	0	0	0	1	0	0	0	5114	710	25	3	2740	3	EML3	11	62379057	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	4208912	62379057	72627459	128	32849											
SLC22A25	387601	genome.wustl.edu	37	chr11	62931426	62931426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacaaggccagagaggatgGcaaagactccatagatgatc	16	5	11	9	0	0	4	0	1	0	3	2	6	1	5	2	3	1	1	2	3	4	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:62931426G>A	ENST00000306494.6	-	9	1513	c.1514C>T	c.(1513-1515)gCc>gTc	p.A505V	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AGAGAGGATGGCAAAGACTCC	0.493																																																	0													148	151	150					11																	62931426		2201	4298	6499	SO:0001583	missense	0			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1514C>T	11.37:g.62931426G>A	ENSP00000307443:p.Ala505Val			Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A505V	ENST00000306494.6	37	c.1514	CCDS31592.1	11	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880455	0.33255	.	.	ENSG00000196600	ENST00000306494	T	0.60424	0.19	4.73	2.77	0.32553	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.541895	0.20531	N	0.090514	T	0.56381	0.1981	M	0.73598	2.24	0.09310	N	0.999998	B	0.28552	0.215	B	0.25987	0.065	T	0.54159	-0.8335	10	0.72032	D	0.01	.	11.6427	0.51242	0.0:0.342:0.658:0.0	.	505	Q6T423	S22AP_HUMAN	V	505	ENSP00000307443:A505V	ENSP00000307443:A505V	A	-	2	0	SLC22A25	62688002	0.909000	0.30893	0.001000	0.08648	0.004000	0.04260	1.995000	0.40767	0.486000	0.27676	0.586000	0.80456	GCC	SLC22A25	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000196600		0.493	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A25	HGNC	protein_coding	OTTHUMT00000383519.3	-	0	81	0	G	NM_199352		62931426	-1	tier1	-	no_errors	ENST00000306494	ensembl	human	known	74_37	missense	50.67	37	38	SNP	0.021	A	A	62931426	G	A	62931426	3	1	127	1	0	0	0	0	1	0	0	0	14499	1203	42	3	133	3	SLC22A25	11	62931426	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	552369	62931426	72075090	129	32850											
SLC22A12	116085	genome.wustl.edu	37	chr11	64368307	64368307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcccctggctgcccttgCtggtgtatgggacggtgcca	4	10	15	12	1	0	0	0	0	0	0	0	1	0	1	4	5	3	3	4	5	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:64368307C>T	ENST00000377574.1	+	9	2242	c.1495C>T	c.(1495-1497)Ctg>Ttg	p.L499L	SLC22A12_ENST00000377567.2_Silent_p.L391L|SLC22A12_ENST00000473690.1_Silent_p.L278L|SLC22A12_ENST00000336464.7_Silent_p.L465L|SLC22A12_ENST00000377572.1_Silent_p.L391L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	499					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GCTGCCCTTGCTGGTGTATGG	0.667																																																	0													80	82	81					11																	64368307		2201	4297	6498	SO:0001819	synonymous_variant	0			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1495C>T	11.37:g.64368307C>T			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L499	ENST00000377574.1	37	c.1495	CCDS8075.1	11																																																																																			SLC22A12	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000197891		0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2	-	0	47	0	C	NM_144585		64368307	1	tier1	-	no_errors	ENST00000377574	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.013	T	T	64368307	C	T	64368307	2	4	127	1	0	0	0	0	0	0	0	1	14488	796	28	3		3	SLC22A12	11	64368307	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	1436881	64368307	70638209	130	32851											
KLC2	64837	genome.wustl.edu	37	chr11	66032654	66032654	+	Missense_Mutation	SNP	A	A	G	1	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	tccaggataagcgccgggacAgcgccccctatggggaatac	10	5	13	13	3	0	0	0	0	0	0	1	3	1	3	4	4	3	0	4	4	4	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:66032654A>G	ENST00000417856.1	+	11	1525	c.1282A>G	c.(1282-1284)Agc>Ggc	p.S428G	KLC2_ENST00000421552.1_Missense_Mutation_p.S351G|KLC2_ENST00000394066.2_Missense_Mutation_p.S351G|KLC2_ENST00000394067.2_Missense_Mutation_p.S428G|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394065.2_Missense_Mutation_p.S289G|KLC2_ENST00000316924.5_Missense_Mutation_p.S428G|RP11-867G23.2_ENST00000533287.1_RNA|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	428					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						GCGCCGGGACAGCGCCCCCTA	0.662											OREG0021098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													54	63	60					11																	66032654		2200	4295	6495	SO:0001583	missense	0			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.1282A>G	11.37:g.66032654A>G	ENSP00000399403:p.Ser428Gly	1088	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S428G	ENST00000417856.1	37	c.1282	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827014	0.50739	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.83506	-1.08;-1.08;-1.08;-1.08;-1.08;-1.73	4.37	3.19	0.36642	.	0.228743	0.37348	N	0.002130	T	0.60183	0.2249	N	0.03903	-0.33	0.39449	D	0.967375	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.57195	-0.7853	10	0.33141	T	0.24	-24.6533	7.0626	0.25133	0.8143:0.0:0.1857:0.0	.	289;351;428	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	G	428;428;428;351;351;289	ENSP00000399403:S428G;ENSP00000377631:S428G;ENSP00000314837:S428G;ENSP00000408484:S351G;ENSP00000377630:S351G;ENSP00000377629:S289G	ENSP00000314837:S428G	S	+	1	0	KLC2	65789230	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.626000	0.37039	1.831000	0.53308	0.459000	0.35465	AGC	KLC2	-	NULL	ENSG00000174996		0.662	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1		0	64	0	A	NM_022822		66032654	1			no_errors	ENST00000316924	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.998	G	G	66032654	A	G	66032654	3	3	127	1	0	0	0	0	1	0	0	0	8361	188	7	4	1320	4	KLC2	11	66032654	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	1664347	66032654	68973862	131	32852											
MYO7A	4647	genome.wustl.edu	37	chr11	76883843	76883843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttagcagccagttcaagcGgtcactggagctgctgatgc	9	9	12	11	1	2	1	2	1	0	0	2	2	2	2	1	2	6	4	1	2	2	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:76883843G>A	ENST00000409709.3	+	16	2119	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	MYO7A_ENST00000458637.2_Missense_Mutation_p.R616Q|MYO7A_ENST00000409893.1_Missense_Mutation_p.R616Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.R605Q	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	616	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGTTCAAGCGGTCACTGGAG	0.642																																																	0													20	23	22					11																	76883843		2039	4109	6148	SO:0001583	missense	0			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.1847G>A	11.37:g.76883843G>A	ENSP00000386331:p.Arg616Gln		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.R616Q	ENST00000409709.3	37	c.1847	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080151	0.55753	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	4.77	4.77	0.60923	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	N	0.02391	-0.57	0.58432	D	0.999993	D;B;P	0.57257	0.979;0.066;0.951	P;B;P	0.53649	0.731;0.017;0.714	T	0.58589	-0.7610	10	0.09843	T	0.71	.	18.1567	0.89693	0.0:0.0:1.0:0.0	.	616;616;616	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	Q	616;616;616;605;615;615;492;615	ENSP00000386331:R616Q;ENSP00000386689:R616Q;ENSP00000392185:R616Q;ENSP00000386635:R605Q	ENSP00000345075:R492Q	R	+	2	0	MYO7A	76561491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.435000	0.80391	2.368000	0.80403	0.549000	0.68633	CGG	MYO7A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000137474		0.642	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	-	0	46	0	G	NM_000260		76883843	1	tier1	-	no_errors	ENST00000409709	ensembl	human	known	74_37	missense	20.29	55	14	SNP	1.000	A	A	76883843	G	A	76883843	3	1	127	1	0	0	0	0	1	0	0	0	10120	1116	39	1	1905	1	MYO7A	11	76883843	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	10851189	76883843	58122673	132	32853											
ANKK1	255239	genome.wustl.edu	37	chr11	113270738	113270738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacctcctagaacatcacGcaaatgtccacgcccgcaac	13	6	5	17	3	2	1	2	0	0	1	4	1	4	1	4	0	3	2	4	0	5	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:113270738G>A	ENST00000303941.3	+	8	2141	c.2047G>A	c.(2047-2049)Gca>Aca	p.A683T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	683							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)		AGAACATCACGCAAATGTCCA	0.632																																																	0													62	69	66					11																	113270738		2067	4198	6265	SO:0001583	missense	0			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.2047G>A	11.37:g.113270738G>A	ENSP00000306678:p.Ala683Thr			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.A683T	ENST00000303941.3	37	c.2047	CCDS44734.1	11	.	.	.	.	.	.	.	.	.	.	G	8.861	0.946966	0.18356	.	.	ENSG00000170209	ENST00000303941	T	0.25912	1.77	4.53	2.66	0.31614	Ankyrin repeat-containing domain (4);	0.103393	0.40908	D	0.000990	T	0.36908	0.0984	M	0.90252	3.1	0.27878	N	0.939807	B	0.30114	0.269	B	0.34038	0.174	T	0.38200	-0.9672	10	0.59425	D	0.04	-3.745	9.6143	0.39681	0.1699:0.0:0.8301:0.0	.	683	Q8NFD2	ANKK1_HUMAN	T	683	ENSP00000306678:A683T	ENSP00000306678:A683T	A	+	1	0	ANKK1	112775948	0.967000	0.33354	0.001000	0.08648	0.001000	0.01503	3.335000	0.52105	0.542000	0.28846	0.514000	0.50259	GCA	ANKK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000170209		0.632	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	HGNC	protein_coding	OTTHUMT00000395830.1	-	0	57	0	G	NM_178510		113270738	1	tier1	-	no_errors	ENST00000303941	ensembl	human	known	74_37	missense	17.72	64	14	SNP	0.409	A	A	113270738	G	A	113270738	3	1	127	1	0	0	0	0	1	0	0	0	631	1087	38	1	2077	1	ANKK1	11	113270738	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	36386895	113270738	21735778	133	32854											
PDZD3	79849	genome.wustl.edu	37	chr11	119056655	119056655	+	5'UTR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgcaggacacagcctcgtTaactctgtaagtgccacgag	10	9	10	12	2	2	0	0	0	2	0	3	2	2	1	2	1	4	3	2	1	2	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:119056655T>C	ENST00000531114.1	+	0	472				PDZD3_ENST00000525131.1_5'UTR|PDZD3_ENST00000392817.2_5'Flank|PDZD3_ENST00000322712.4_Missense_Mutation_p.L13S|PDZD3_ENST00000355547.5_Missense_Mutation_p.L13S			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3						cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		ACAGCCTCGTTAACTCTGTAA	0.527																																																	0													75	73	74					11																	119056655		2200	4295	6495	SO:0001623	5_prime_UTR_variant	0			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.-78T>C	11.37:g.119056655T>C			Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L13S	ENST00000531114.1	37	c.38		11	.	.	.	.	.	.	.	.	.	.	T	9.100	1.003933	0.19199	.	.	ENSG00000172367	ENST00000355547;ENST00000322712;ENST00000454065	T;T	0.81163	1.09;-1.46	4.36	4.36	0.52297	.	.	.	.	.	T	0.81346	0.4803	M	0.64997	1.995	0.19945	N	0.999944	P;P	0.50943	0.94;0.901	P;P	0.51135	0.66;0.458	T	0.71856	-0.4466	9	0.46703	T	0.11	.	6.6615	0.23016	0.0:0.1092:0.0:0.8908	.	13;13	Q86UT5-2;B0YJ61	.;.	S	13	ENSP00000347742:L13S;ENSP00000327107:L13S	ENSP00000327107:L13S	L	+	2	0	PDZD3	118561865	0.023000	0.18921	0.021000	0.16686	0.004000	0.04260	1.482000	0.35486	1.609000	0.50190	0.459000	0.35465	TTA	PDZD3	-	NULL	ENSG00000172367		0.527	PDZD3-004	KNOWN	basic	protein_coding	PDZD3	HGNC	protein_coding	OTTHUMT00000388471.1	-	0	60	0	T	NM_024791		119056655	1	tier1	-	no_errors	ENST00000355547	ensembl	human	known	74_37	missense	56.38	41	53	SNP	0.029	C	C	119056655	T	C	119056655	1	2	127	0	1	0	0	0	0	0	0	0	11741	1764	61	4		4	PDZD3	11	119056655	5'UTR	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	5785917	119056655	15949861	134	32855											
OR10G8	219869	genome.wustl.edu	37	chr11	123900843	123900843	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgccctactgtggacccaacTggatccagcactatttgtgt	8	12	9	12	0	0	0	0	0	0	0	1	2	1	2	3	2	4	1	3	2	3	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:123900843T>C	ENST00000431524.1	+	1	547	c.514T>C	c.(514-516)Tgg>Cgg	p.W172R		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	172						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)		TGGACCCAACTGGATCCAGCA	0.517																																																	0													208	186	194					11																	123900843		2201	4299	6500	SO:0001583	missense	0			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.514T>C	11.37:g.123900843T>C	ENSP00000389072:p.Trp172Arg		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.W172R	ENST00000431524.1	37	c.514	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.286985	0.01387	.	.	ENSG00000234560	ENST00000431524	T	0.00069	8.77	3.04	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.574633	0.14652	N	0.306536	T	0.00039	0.0001	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10753	-1.0616	10	0.16896	T	0.51	.	2.3258	0.04222	0.1673:0.4712:0.2445:0.117	.	172	Q8NGN5	O10G8_HUMAN	R	172	ENSP00000389072:W172R	ENSP00000389072:W172R	W	+	1	0	OR10G8	123406053	0.000000	0.05858	0.573000	0.28510	0.004000	0.04260	-0.740000	0.04861	0.606000	0.29965	-0.128000	0.14901	TGG	OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000234560		0.517	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	-	0	97	0	T	NM_001004464		123900843	1	tier1	-	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	7.07	184	14	SNP	0.000	C	C	123900843	T	C	123900843	3	2	127	1	0	0	0	0	1	0	0	0	10942	1580	55	4	516	4	OR10G8	11	123900843	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	4844188	123900843	11105673	135	32856			1	34		2	2	14	N	T_A	9.322276e-05
OR10G8	219869	genome.wustl.edu	37	chr11	123900856	123900856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccaactggatccagcactAtttgtgtgatgcaccgccca	10	9	8	14	1	0	1	0	1	0	0	1	2	1	2	4	1	3	2	4	1	2	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:123900856A>G	ENST00000431524.1	+	1	560	c.527A>G	c.(526-528)tAt>tGt	p.Y176C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	176						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)		ATCCAGCACTATTTGTGTGAT	0.542																																																	0													206	185	192					11																	123900856		2201	4299	6500	SO:0001583	missense	0			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.527A>G	11.37:g.123900856A>G	ENSP00000389072:p.Tyr176Cys		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y176C	ENST00000431524.1	37	c.527	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	A	7.651	0.682857	0.14907	.	.	ENSG00000234560	ENST00000431524	T	0.00158	8.65	3.04	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.172946	0.27901	N	0.017398	T	0.00328	0.0010	M	0.65677	2.01	0.35176	D	0.772039	D	0.76494	0.999	D	0.76071	0.987	T	0.72769	-0.4193	10	0.87932	D	0	.	6.2529	0.20856	0.586:0.0:0.0:0.414	.	176	Q8NGN5	O10G8_HUMAN	C	176	ENSP00000389072:Y176C	ENSP00000389072:Y176C	Y	+	2	0	OR10G8	123406066	0.000000	0.05858	0.785000	0.31869	0.058000	0.15608	-0.114000	0.10757	1.377000	0.46286	0.528000	0.53228	TAT	OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000234560		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	-	0	98	0	A	NM_001004464		123900856	1	tier1	-	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	6.44	189	13	SNP	0.950	G	G	123900856	A	G	123900856	3	3	127	1	0	0	0	0	1	0	0	0	10942	449	16	4	529	4	OR10G8	11	123900856	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	13	123900856	11105660	136	32857			1	34		2	2	14	N	T_A	9.322276e-05
OR8B4	283162	genome.wustl.edu	37	chr11	124294378	124294378	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacatggtgaccatgtaGagcagggggttgcagatggc	9	7	19	6	0	0	3	0	1	0	2	0	4	0	4	1	6	2	4	1	6	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:124294378G>T	ENST00000356130.3	-	1	411	c.390C>A	c.(388-390)ctC>ctA	p.L130L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|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)		TGACCATGTAGAGCAGGGGGT	0.498																																																	0													90	85	87					11																	124294378		2201	4299	6500	SO:0001819	synonymous_variant	0			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.390C>A	11.37:g.124294378G>T			B2RNF8|Q6IFQ7	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L130	ENST00000356130.3	37	c.390	CCDS31710.1	11																																																																																			OR8B4	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198657		0.498	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B4	HGNC	protein_coding	OTTHUMT00000387055.1	-	0	33	0	G	NM_001005196		124294378	-1	tier1	-	no_errors	ENST00000356130	ensembl	human	known	74_37	silent	39.74	47	31	SNP	0.843	T	T	124294378	G	T	124294378	2	4	127	1	0	0	0	0	0	0	0	1	11268	929	33	3		3	OR8B4	11	124294378	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	393522	124294378	10712138	137	32858											
RPUSD4	84881	genome.wustl.edu	37	chr11	126080863	126080863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattcctcgggtcagtgcctTagcaagcacgttggggtgga	8	10	14	9	2	1	0	1	0	0	0	3	1	2	1	2	4	3	3	2	4	3	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr11:126080863T>C	ENST00000298317.4	-	2	330	c.277A>G	c.(277-279)Aag>Gag	p.K93E	FAM118B_ENST00000533050.1_5'Flank|RPUSD4_ENST00000533628.1_Missense_Mutation_p.K93E|RP11-50B3.4_ENST00000532866.1_RNA|RPUSD4_ENST00000534393.1_5'UTR|FAM118B_ENST00000360194.4_5'Flank|FAM118B_ENST00000529731.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	93					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		GTCAGTGCCTTAGCAAGCACG	0.552																																																	0													163	146	152					11																	126080863		2201	4299	6500	SO:0001583	missense	0			BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.277A>G	11.37:g.126080863T>C	ENSP00000298317:p.Lys93Glu		E9PML2|Q96K56	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.K93E	ENST00000298317.4	37	c.277	CCDS8469.1	11	.	.	.	.	.	.	.	.	.	.	T	31	5.088499	0.94100	.	.	ENSG00000165526	ENST00000298317;ENST00000533628;ENST00000532674	T;T;T	0.20200	2.09;2.09;2.09	5.3	5.3	0.74995	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	M	0.80183	2.485	0.48762	D	0.999709	B;P	0.34462	0.23;0.454	B;B	0.37780	0.119;0.258	T	0.06991	-1.0796	10	0.32370	T	0.25	-13.8884	12.9895	0.58610	0.0:0.0:0.0:1.0	.	93;93	E9PML2;Q96CM3	.;RUSD4_HUMAN	E	93	ENSP00000298317:K93E;ENSP00000433065:K93E;ENSP00000433709:K93E	ENSP00000298317:K93E	K	-	1	0	RPUSD4	125586073	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.046000	0.76592	2.003000	0.58678	0.459000	0.35465	AAG	RPUSD4	-	superfamily_PsdUridine_synth_cat_dom	ENSG00000165526		0.552	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD4	HGNC	protein_coding	OTTHUMT00000386336.1	-	0	69	0	T	NM_032795		126080863	-1	tier1	-	no_errors	ENST00000298317	ensembl	human	known	74_37	missense	28.80	89	36	SNP	1.000	C	C	126080863	T	C	126080863	3	2	127	1	0	0	0	0	1	0	0	0	13714	1763	61	4	880	4	RPUSD4	11	126080863	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	1786485	126080863	8925653	138	32859											
DYRK4	8798	genome.wustl.edu	37	chr12	4705422	4705422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaaacaatgagctggtGgccctgaaaatcatcaggaa	17	6	9	9	0	2	2	2	2	0	0	2	3	2	3	1	3	2	1	1	3	6	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:4705422G>A	ENST00000540757.2	+	5	550	c.390G>A	c.(388-390)gtG>gtA	p.V130V	DYRK4_ENST00000010132.5_Silent_p.V130V|DYRK4_ENST00000543431.1_Silent_p.V130V	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	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)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATGAGCTGGTGGCCCTGAAAA	0.537																																																	0													116	114	115					12																	4705422		2203	4300	6503	SO:0001819	synonymous_variant	0			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.390G>A	12.37:g.4705422G>A			A8K8F7|Q8NEF2|Q92631	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V130	ENST00000540757.2	37	c.390	CCDS8530.1	12																																																																																			DYRK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000010219		0.537	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	HGNC	protein_coding	OTTHUMT00000398780.2	-	0	48	0	G			4705422	1	tier1	-	no_errors	ENST00000010132	ensembl	human	known	74_37	silent	52.63	9	10	SNP	1.000	A	A	4705422	G	A	4705422	2	1	127	1	0	0	0	0	0	0	0	1	4872	1335	47	3		3	DYRK4	12	4705422	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09		4705422	129146473	139	32860											
LRP6	4040	genome.wustl.edu	37	chr12	12397568	12397568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgcaagtcccgtctgtttGcataaagcaacaaaggggcc	12	8	10	11	2	1	0	0	0	1	0	3	0	2	0	2	2	3	4	2	2	5	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:12397568G>A	ENST00000261349.4	-	2	153	c.77C>T	c.(76-78)gCa>gTa	p.A26V	LRP6_ENST00000543091.1_Missense_Mutation_p.A26V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	26	Beta-propeller 1.				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)				CCGTCTGTTTGCATAAAGCAA	0.418																																																	0													69	64	65					12																	12397568		2203	4300	6503	SO:0001583	missense	0			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.77C>T	12.37:g.12397568G>A	ENSP00000261349:p.Ala26Val		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A26V	ENST00000261349.4	37	c.77	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709149	0.89018	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91631	-2.88;-2.88	4.8	4.8	0.61643	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.48767	U	0.000167	D	0.96800	0.8955	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.978;0.985	D	0.96947	0.9692	10	0.49607	T	0.09	.	18.1251	0.89583	0.0:0.0:1.0:0.0	.	26;26	F5H7J9;O75581	.;LRP6_HUMAN	V	26	ENSP00000261349:A26V;ENSP00000442472:A26V	ENSP00000261349:A26V	A	-	2	0	LRP6	12288835	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.260000	0.95568	2.524000	0.85096	0.454000	0.30748	GCA	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6	ENSG00000070018		0.418	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	-	0	56	0	G			12397568	-1	tier1	-	no_errors	ENST00000261349	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	12397568	G	A	12397568	3	1	127	1	0	0	0	0	1	0	0	0	8997	1319	46	3	4852	3	LRP6	12	12397568	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	7692146	12397568	121454327	140	32861											
GRIN2B	2904	genome.wustl.edu	37	chr12	13761566	13761566	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctcaggccagaaacctggtCcacatattcctcttggatca	10	10	8	13	0	3	1	2	0	1	1	5	2	5	2	4	3	1	1	4	3	2	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:13761566C>G	ENST00000609686.1	-	9	2190	c.1981G>C	c.(1981-1983)Gac>Cac	p.D661H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	661					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)	GAAACCTGGTCCACATATTCC	0.478																																																	0													109	96	101					12																	13761566		2203	4300	6503	SO:0001583	missense	0				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.1981G>C	12.37:g.13761566C>G	ENSP00000477455:p.Asp661His		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D661H	ENST00000609686.1	37	c.1981	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510376	0.85389	.	.	ENSG00000150086	ENST00000279593	T	0.53640	0.61	5.57	5.57	0.84162	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64567	-0.6377	10	0.87932	D	0	.	19.5508	0.95319	0.0:1.0:0.0:0.0	.	661	Q13224	NMDE2_HUMAN	H	661	ENSP00000279593:D661H	ENSP00000279593:D661H	D	-	1	0	GRIN2B	13652833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.607000	0.88179	0.655000	0.94253	GAC	GRIN2B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000273079		0.478	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	-	0	91	0	C			13761566	-1	tier1	-	no_errors	ENST00000609686	ensembl	human	known	74_37	missense	53.41	41	47	SNP	1.000	G	G	13761566	C	G	13761566	3	3	127	1	0	0	0	0	1	0	0	0	6807	855	30	5	2493	5	GRIN2B	12	13761566	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	1363998	13761566	120090329	141	32862											
PDE6H	5149	genome.wustl.edu	37	chr12	15134380	15134380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattcagccacctggaattGcatgagctcgctcagtttgg	8	11	11	11	1	2	1	2	1	0	0	3	2	2	2	2	2	3	5	2	2	1	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:15134380G>T	ENST00000266395.2	+	4	328	c.222G>T	c.(220-222)ttG>ttT	p.L74F		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	74					activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|lung(6)|ovary(1)|skin(2)	10					Sildenafil(DB00203)|Vardenafil(DB00862)	ACCTGGAATTGCATGAGCTCG	0.483																																																	0													175	154	161					12																	15134380		2203	4300	6503	SO:0001583	missense	0				CCDS8672.1	12p13	2008-03-18					3.1.4.17	"Phosphodiesterases"	8790	protein-coding gene	gene with protein product		601190				8786098	Standard	NM_006205		Approved		uc001rcr.3	Q13956		ENST00000266395.2:c.222G>T	12.37:g.15134380G>T	ENSP00000266395:p.Leu74Phe		Q52LY7	Missense_Mutation	SNP	pfam_PDE6_gamma,pirsf_PDE6_gamma	p.L74F	ENST00000266395.2	37	c.222	CCDS8672.1	12	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199077	0.58126	.	.	ENSG00000139053	ENST00000266395	T	0.60040	0.22	5.08	3.09	0.35607	.	0.000000	0.64402	D	0.000001	T	0.68732	0.3033	.	.	.	0.46586	D	0.999115	D	0.76494	0.999	D	0.87578	0.998	T	0.67385	-0.5684	9	0.72032	D	0.01	.	2.729	0.05222	0.3425:0.2515:0.406:0.0	.	74	Q13956	CNCG_HUMAN	F	74	ENSP00000266395:L74F	ENSP00000266395:L74F	L	+	3	2	PDE6H	15025647	1.000000	0.71417	0.981000	0.43875	0.828000	0.46876	1.138000	0.31491	0.651000	0.30788	0.591000	0.81541	TTG	PDE6H	-	pfam_PDE6_gamma,pirsf_PDE6_gamma	ENSG00000139053		0.483	PDE6H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6H	HGNC	protein_coding	OTTHUMT00000400880.1	-	0	43	0	G			15134380	1	tier1	-	no_errors	ENST00000266395	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	15134380	G	T	15134380	3	4	127	1	0	0	0	0	1	0	0	0	11689	1310	46	3	232	3	PDE6H	12	15134380	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	1372814	15134380	118717515	142	32863											
EPS8	2059	genome.wustl.edu	37	chr12	15777165	15777165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcacagagagactcacacagGgttgaatccctttgactgta	12	10	9	10	0	2	4	2	2	0	2	3	5	3	4	1	1	0	2	1	1	2	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:15777165G>C	ENST00000281172.5	-	19	2657	c.2221C>G	c.(2221-2223)Cct>Gct	p.P741A	EPS8_ENST00000543523.1_Missense_Mutation_p.P741A|EPS8_ENST00000542903.1_Missense_Mutation_p.P481A|EPS8_ENST00000540613.1_Missense_Mutation_p.P481A|EPS8_ENST00000543612.1_Missense_Mutation_p.P741A	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	741	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)		ACTCACACAGGGTTGAATCCC	0.408																																																	0													141	110	120					12																	15777165		2203	4300	6503	SO:0001583	missense	0			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.2221C>G	12.37:g.15777165G>C	ENSP00000281172:p.Pro741Ala		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain	p.P741A	ENST00000281172.5	37	c.2221	CCDS31753.1	12	.	.	.	.	.	.	.	.	.	.	G	5.127	0.209039	0.09757	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.43	5.43	0.79202	.	0.112539	0.64402	D	0.000008	T	0.20861	0.0502	L	0.41236	1.265	0.40111	D	0.976487	B	0.28378	0.209	B	0.24155	0.051	T	0.03175	-1.1064	10	0.29301	T	0.29	.	12.7092	0.57080	0.0744:0.0:0.9256:0.0	.	741	Q12929	EPS8_HUMAN	A	741;741;741;481;481	ENSP00000441867:P741A;ENSP00000281172:P741A;ENSP00000442388:P741A;ENSP00000441888:P481A;ENSP00000437806:P481A	ENSP00000281172:P741A	P	-	1	0	EPS8	15668432	1.000000	0.71417	0.996000	0.52242	0.037000	0.13140	3.780000	0.55386	2.827000	0.97445	0.650000	0.86243	CCT	EPS8	-	superfamily_SAM/pointed	ENSG00000151491		0.408	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	-	0	69	0	G			15777165	-1	tier1	-	no_errors	ENST00000281172	ensembl	human	known	74_37	missense	42.11	33	24	SNP	1.000	C	C	15777165	G	C	15777165	3	2	127	1	0	0	0	0	1	0	0	0	5210	1232	43	5	259	5	EPS8	12	15777165	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	642785	15777165	118074730	143	32864											
PLEKHA5	54477	genome.wustl.edu	37	chr12	19496362	19496362	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcaaagaggtactacaGaaataggtaaattagctttg	17	9	10	5	0	0	2	0	0	0	2	0	2	0	2	0	2	5	5	0	2	8	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:19496362G>T	ENST00000299275.6	+	17	2353	c.2347G>T	c.(2347-2349)Gaa>Taa	p.E783*	PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E702*|PLEKHA5_ENST00000424268.1_Intron|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E541*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.E783*|PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.E841*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E841*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E886*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E783*	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	783					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)					AGGTACTACAGAAATAGGTAA	0.393																																					Pancreas(196;329 2193 11246 14234 19524)												0													102	105	104					12																	19496362		2203	4300	6503	SO:0001587	stop_gained	0			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.2347G>T	12.37:g.19496362G>T	ENSP00000299275:p.Glu783*		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.E783*	ENST00000299275.6	37	c.2347	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903080	0.52227	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000543806;ENST00000536974;ENST00000538972	.	.	.	4.77	4.77	0.60923	.	0.894020	0.09833	N	0.749913	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	16.3423	0.83085	0.0:0.0:1.0:0.0	.	.	.	.	X	783;841;783;886;783;541;841;702;675;120	.	ENSP00000299275:E783X	E	+	1	0	PLEKHA5	19387629	1.000000	0.71417	0.946000	0.38457	0.661000	0.39034	7.049000	0.76613	2.377000	0.81083	0.591000	0.81541	GAA	PLEKHA5	-	NULL	ENSG00000052126		0.393	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1		0	64	0	G	NM_019012		19496362	1			no_errors	ENST00000317589	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	0.989	T	T	19496362	G	T	19496362	4	4	127	1	0	0	0	0	0	1	0	0	12098	943	33	3	2538	3	PLEKHA5	12	19496362	Nonsense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	3719197	19496362	114355533	144	32865											
CNTN1	1272	genome.wustl.edu	37	chr12	41408076	41408076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtggaggtggaagaaaCagagagctgaccataacatg	15	5	16	5	0	0	3	0	1	0	2	0	7	0	6	1	5	3	1	1	5	3	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:41408076C>T	ENST00000551295.2	+	18	2277	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N	CNTN1_ENST00000348761.2_Silent_p.N709N|CNTN1_ENST00000347616.1_Silent_p.N720N|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	720	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTGGAAGAAACAGAGAGCTGA	0.398																																																	0													151	137	142					12																	41408076		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2160C>T	12.37:g.41408076C>T			A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N720	ENST00000551295.2	37	c.2160	CCDS8737.1	12																																																																																			CNTN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000018236		0.398	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2		0	68	0	C	NM_001843		41408076	1			no_errors	ENST00000347616	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T	T	41408076	C	T	41408076	2	4	127	1	0	0	0	0	0	0	0	1	3647	477	17	3		3	CNTN1	12	41408076	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	21911714	41408076	92443819	145	32866											
SLC38A1	81539	genome.wustl.edu	37	chr12	46591568	46591568	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaataaagagatgaaggaaGaatgaaaataagcatgttag	22	8	10	1	0	0	4	0	2	0	2	0	6	0	5	0	1	1	2	0	1	11	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:46591568G>C	ENST00000398637.5	-	16	1991	c.1297C>G	c.(1297-1299)Ctt>Gtt	p.L433V	SLC38A1_ENST00000439706.1_Missense_Mutation_p.L433V|SLC38A1_ENST00000552197.1_Missense_Mutation_p.L433V|SLC38A1_ENST00000546893.1_Missense_Mutation_p.L433V|SLC38A1_ENST00000549049.1_Missense_Mutation_p.L433V|SLC38A1_ENST00000549633.1_5'Flank	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	433					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)			GATGAAGGAAGAATGAAAATA	0.353																																																	0													114	116	115					12																	46591568		1821	4081	5902	SO:0001583	missense	0			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.1297C>G	12.37:g.46591568G>C	ENSP00000381634:p.Leu433Val		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.L433V	ENST00000398637.5	37	c.1297	CCDS41774.1	12	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795383	0.70452	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	5.95	4.99	0.66335	.	0.192990	0.36972	N	0.002302	T	0.20210	0.0486	M	0.69823	2.125	0.40752	D	0.982925	D;P	0.58268	0.982;0.955	P;D	0.64410	0.757;0.925	T	0.00082	-1.2105	10	0.72032	D	0.01	-22.9908	17.9075	0.88923	0.0:0.0:0.8704:0.1296	.	433;433	F8VX04;Q9H2H9	.;S38A1_HUMAN	V	433	ENSP00000449607:L433V;ENSP00000398142:L433V;ENSP00000381634:L433V;ENSP00000447853:L433V;ENSP00000449756:L433V	ENSP00000381634:L433V	L	-	1	0	SLC38A1	44877835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.310000	0.59141	2.827000	0.97445	0.650000	0.86243	CTT	SLC38A1	-	pfam_AA_transpt_TM	ENSG00000111371		0.353	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	-	0	90	0	G			46591568	-1	tier1	-	no_errors	ENST00000398637	ensembl	human	known	74_37	missense	23.17	63	19	SNP	1.000	C	C	46591568	G	C	46591568	3	2	127	1	0	0	0	0	1	0	0	0	14646	942	33	5	174	5	SLC38A1	12	46591568	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	5183492	46591568	87260327	146	32867											
KRT79	338785	genome.wustl.edu	37	chr12	53223862	53223862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtcaaggtgcccactttgCcatgcagatccatccggccc	7	8	11	15	1	1	1	1	0	0	1	3	1	3	1	5	3	3	1	5	3	1	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:53223862C>T	ENST00000330553.5	-	4	834	c.800G>A	c.(799-801)gGc>gAc	p.G267D		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	267	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCCACTTTGCCATGCAGATC	0.547																																																	0													146	120	129					12																	53223862		2203	4300	6503	SO:0001583	missense	0			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.800G>A	12.37:g.53223862C>T	ENSP00000328358:p.Gly267Asp		Q6P465|Q7Z793	Missense_Mutation	SNP	pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II	p.G267D	ENST00000330553.5	37	c.800	CCDS8839.1	12	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724980	0.68959	.	.	ENSG00000185640	ENST00000330553	D	0.88431	-2.38	4.54	4.54	0.55810	Filament (1);	0.304109	0.23760	N	0.044833	T	0.81259	0.4785	N	0.14661	0.345	0.38174	D	0.939405	P	0.34615	0.459	B	0.38755	0.281	D	0.83535	0.0093	10	0.87932	D	0	.	11.0019	0.47611	0.0:0.8118:0.1881:0.0	.	267	Q5XKE5	K2C79_HUMAN	D	267	ENSP00000328358:G267D	ENSP00000328358:G267D	G	-	2	0	KRT79	51510129	0.002000	0.14202	0.127000	0.21898	0.031000	0.12232	1.229000	0.32600	2.804000	0.96469	0.655000	0.94253	GGC	KRT79	-	pfam_IF	ENSG00000185640		0.547	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT79	HGNC	protein_coding	OTTHUMT00000406376.1	-	0	64	0	C	NM_175834		53223862	-1	tier1	-	no_errors	ENST00000330553	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.978	T	T	53223862	C	T	53223862	3	4	127	1	0	0	0	0	1	0	0	0	8519	739	26	3	831	3	KRT79	12	53223862	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	6632294	53223862	80628033	147	32868											
ZBTB39	9880	genome.wustl.edu	37	chr12	57397269	57397269	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacactgcaggcctggcccTtcaagtttagatggtcaagg	10	9	12	10	0	2	2	2	0	0	2	2	2	2	2	2	4	1	2	2	4	3	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:57397269T>C	ENST00000300101.2	-	2	1518	c.1433A>G	c.(1432-1434)aAg>aGg	p.K478R		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGCCTGGCCCTTCAAGTTTAG	0.572																																																	0													56	52	53					12																	57397269		2203	4300	6503	SO:0001583	missense	0			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1433A>G	12.37:g.57397269T>C	ENSP00000300101:p.Lys478Arg		A7MD38|Q9UD98	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K478R	ENST00000300101.2	37	c.1433	CCDS31839.1	12	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479991	0.44044	.	.	ENSG00000166860	ENST00000300101	T	0.18810	2.19	5.7	4.49	0.54785	.	0.194731	0.44097	D	0.000492	T	0.15349	0.0370	L	0.28458	0.855	0.34610	D	0.717466	B	0.26483	0.15	B	0.19946	0.027	T	0.14839	-1.0458	10	0.62326	D	0.03	-22.4486	10.691	0.45870	0.0:0.0:0.16:0.84	.	478	O15060	ZBT39_HUMAN	R	478	ENSP00000300101:K478R	ENSP00000300101:K478R	K	-	2	0	ZBTB39	55683536	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.743000	0.55104	2.179000	0.69175	0.533000	0.62120	AAG	ZBTB39	-	NULL	ENSG00000166860		0.572	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB39	HGNC	protein_coding	OTTHUMT00000411214.1	-	0	52	0	T	NM_014830		57397269	-1	tier1	-	no_errors	ENST00000300101	ensembl	human	known	74_37	missense	36.36	28	16	SNP	1.000	C	C	57397269	T	C	57397269	3	2	127	1	0	0	0	0	1	0	0	0	17588	1609	56	4	709	4	ZBTB39	12	57397269	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	4173407	57397269	76454626	148	32869											
MDM2	4193	genome.wustl.edu	37	chr12	69229656	69229656	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgattggttggatcaGgattcagtttcagatcagtt	9	15	12	5	0	5	2	5	1	0	1	5	4	5	4	0	4	0	3	0	4	0	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:69229656G>A	ENST00000350057.5	+	7	639	c.639G>A	c.(637-639)caG>caA	p.Q213Q	MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Silent_p.Q43Q|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000540827.1_Silent_p.Q43Q|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000356290.4_Silent_p.Q68Q|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000258149.5_Silent_p.Q183Q|MDM2_ENST00000462284.1_Silent_p.Q244Q|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258148.7_Silent_p.Q189Q|MDM2_ENST00000360430.2_Silent_p.Q43Q|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000348801.2_Silent_p.Q38Q|MDM2_ENST00000299252.4_Silent_p.Q68Q|MDM2_ENST00000393413.3_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	238	ARF-binding.|Interaction with MTBP. {ECO:0000250}.|Interaction with PYHIN1 and necessary for interaction with RFFL and RNF34. {ECO:0000269|PubMed:16479015, ECO:0000269|PubMed:18382127}.|Poly-Ser.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GGTTGGATCAGGATTCAGTTT	0.358			A		"sarcoma, glioma, colorectal, other"																																			Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"M, O, E, L"	0													221	206	210					12																	69229656		1853	4114	5967	SO:0001819	synonymous_variant	0				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.639G>A	12.37:g.69229656G>A			A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Silent	SNP	pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.Q244	ENST00000350057.5	37	c.732		12																																																																																			MDM2	-	superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4	ENSG00000135679		0.358	MDM2-033	NOVEL	basic|exp_conf	protein_coding	MDM2	HGNC	protein_coding	OTTHUMT00000402665.1	-	0	63	0	G	NM_006880		69229656	1	tier1	-	no_errors	ENST00000462284	ensembl	human	known	74_37	silent	15.62	54	10	SNP	1.000	A	A	69229656	G	A	69229656	2	1	127	1	0	0	0	0	0	0	0	1	9451	991	35	3		3	MDM2	12	69229656	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	11832387	69229656	64622239	149	32870											
C12orf64	283310	genome.wustl.edu	37	chr12	80714314	80714314	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcgaattcagcctttcatcgGagagcaacatttttccacca	11	11	7	12	2	2	1	2	0	0	1	4	3	3	1	3	1	3	1	3	1	2	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:80714314G>A	ENST00000547103.1	+	33	3894	c.3888G>A	c.(3886-3888)cgG>cgA	p.R1296R	OTOGL_ENST00000458043.2_Silent_p.R1296R			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1296					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						CCTTTCATCGGAGAGCAACAT	0.428																																																	0													79	76	77					12																	80714314		1890	4121	6011	SO:0001819	synonymous_variant	0			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.3888G>A	12.37:g.80714314G>A			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.R1296	ENST00000547103.1	37	c.3888		12																																																																																			OTOGL	-	pfam_AbfB,superfamily_AbfB	ENSG00000165899		0.428	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	-	0	40	0	G	NM_173591		80714314	1	tier1	-	no_errors	ENST00000458043	ensembl	human	known	74_37	silent	12.00	44	6	SNP	0.109	A	A	80714314	G	A	80714314	2	1	127	1	0	0	0	0	0	0	0	1	1712	1161	41	3		3	C12orf64	12	80714314	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	11484658	80714314	53137581	150	32871											
CEP290	80184	genome.wustl.edu	37	chr12	88478393	88478393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttctagaagacgttgataCttctttaatacttcttcttt	9	21	4	7	1	4	3	0	1	4	2	4	3	4	3	0	0	2	1	0	0	5	12			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:88478393C>A	ENST00000552810.1	-	35	5017	c.4674G>T	c.(4672-4674)aaG>aaT	p.K1558N	CEP290_ENST00000397838.3_Missense_Mutation_p.K618N|CEP290_ENST00000309041.7_Missense_Mutation_p.K1560N|CEP290_ENST00000547691.2_Missense_Mutation_p.K618N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1558					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						GACGTTGATACTTCTTTAATA	0.294																																																	0													153	143	146					12																	88478393		1801	4065	5866	SO:0001583	missense	0			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.4674G>T	12.37:g.88478393C>A	ENSP00000448012:p.Lys1558Asn		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.K1560N	ENST00000552810.1	37	c.4680	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185360	0.57909	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.52	-5.74	0.02391	.	0.000000	0.85682	D	0.000000	D	0.92987	0.7768	M	0.64997	1.995	0.41995	D	0.990866	D	0.76494	0.999	D	0.72625	0.978	D	0.90932	0.4791	10	0.39692	T	0.17	.	13.3396	0.60537	0.0:0.3635:0.0:0.6365	.	1558	O15078	CE290_HUMAN	N	618;1558;1560;618	ENSP00000446905:K618N;ENSP00000448012:K1558N;ENSP00000308021:K1560N;ENSP00000380938:K618N	ENSP00000308021:K1560N	K	-	3	2	CEP290	87002524	0.766000	0.28496	0.892000	0.35008	0.834000	0.47266	-0.218000	0.09240	-0.747000	0.04759	-1.105000	0.02106	AAG	CEP290	-	NULL	ENSG00000198707		0.294	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	-	0	81	0	C	NM_025114		88478393	-1	tier1	-	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	18.45	84	19	SNP	0.966	A	A	88478393	C	A	88478393	3	1	127	1	0	0	0	0	1	0	0	0	3260	564	20	3	2845	3	CEP290	12	88478393	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	7764079	88478393	45373502	151	32872											
TMPO	7112	genome.wustl.edu	37	chr12	98927030	98927030	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtagaaaatatttgcggtaGagagaaaagtggaattcaac	18	9	11	3	1	1	3	1	0	0	3	1	5	1	4	0	2	2	2	0	2	9	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:98927030G>C	ENST00000556029.1	+	3	921				TMPO_ENST00000393053.2_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.R332T|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATTTGCGGTAGAGAGAAAAGT	0.418																																																	0													49	53	52					12																	98927030		2203	4300	6503	SO:0001627	intron_variant	0				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1414G>C	12.37:g.98927030G>C			A2T926|Q14861	Missense_Mutation	SNP	pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom	p.R332T	ENST00000556029.1	37	c.995	CCDS31879.1	12	.	.	.	.	.	.	.	.	.	.	G	4.282	0.051553	0.08291	.	.	ENSG00000120802	ENST00000266732	T	0.28069	1.63	5.32	4.42	0.53409	.	0.438446	0.23551	N	0.046967	T	0.16854	0.0405	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04053	-1.0981	10	0.37606	T	0.19	-4.4764	12.2665	0.54681	0.0:0.1712:0.8288:0.0	.	332	P42166	LAP2A_HUMAN	T	332	ENSP00000266732:R332T	ENSP00000266732:R332T	R	+	2	0	TMPO	97451161	1.000000	0.71417	0.984000	0.44739	0.475000	0.33008	2.791000	0.47829	1.361000	0.45981	-0.181000	0.13052	AGA	TMPO	-	NULL	ENSG00000120802		0.418	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	-	0	50	0	G	NM_003276		98927030	1	tier1	-	no_errors	ENST00000266732	ensembl	human	known	74_37	missense	21.88	50	14	SNP	0.998	C	C	98927030	G	C	98927030	1	2	127	0	1	0	0	0	0	0	0	0	16284	942	33	5		5	TMPO	12	98927030	Intron	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	10448637	98927030	34924865	152	32873											
NFYB	4801	genome.wustl.edu	37	chr12	104519955	104519955	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgctattggaagatatatAtcttgttctctgaaactttc	10	19	6	6	0	2	2	0	1	2	1	4	3	2	3	0	1	2	2	0	1	6	9			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:104519955A>G	ENST00000240055.3	-	4	395	c.168T>C	c.(166-168)gaT>gaC	p.D56D	RNA5SP370_ENST00000362545.1_RNA|NFYB_ENST00000551727.1_Silent_p.D56D	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	56	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGATATATATCTTGTTCTC	0.333																																																	0													168	153	158					12																	104519955		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.168T>C	12.37:g.104519955A>G			A8K7B9|Q96IY8	Silent	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3	p.D56	ENST00000240055.3	37	c.168	CCDS9098.1	12																																																																																			NFYB	-	superfamily_Histone-fold	ENSG00000120837		0.333	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYB	HGNC	protein_coding	OTTHUMT00000407786.1	-	0	61	0	A			104519955	-1	tier1	-	no_errors	ENST00000240055	ensembl	human	known	74_37	silent	37.68	43	26	SNP	0.999	G	G	104519955	A	G	104519955	2	3	127	1	0	0	0	0	0	0	0	1	10429	446	16	4		4	NFYB	12	104519955	Silent	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	5592925	104519955	29331940	153	32874											
KIAA1033	23325	genome.wustl.edu	37	chr12	105551051	105551051	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatattgtaaattttgaaGaactagtaaaagaagaaggt	20	11	9	1	0	0	5	0	1	0	4	0	5	0	5	0	1	1	2	0	1	11	7			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:105551051G>T	ENST00000332180.5	+	28	2950	c.2863G>T	c.(2863-2865)Gaa>Taa	p.E955*		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						AAATTTTGAAGAACTAGTAAA	0.284																																																	0													69	63	65					12																	105551051		1788	4062	5850	SO:0001587	stop_gained	0			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.2863G>T	12.37:g.105551051G>T	ENSP00000328062:p.Glu955*			Nonsense_Mutation	SNP	NULL	p.E955*	ENST00000332180.5	37	c.2863	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.384988	0.98789	.	.	ENSG00000136051	ENST00000332180;ENST00000552203;ENST00000551224	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.8868	0.92381	0.0:0.0:1.0:0.0	.	.	.	.	X	955;33;33	.	ENSP00000328062:E955X	E	+	1	0	KIAA1033	104075181	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.532000	0.98057	2.460000	0.83146	0.467000	0.42956	GAA	KIAA1033	-	NULL	ENSG00000136051		0.284	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	-	0	61	0	G	NM_015275		105551051	1	tier1	-	no_errors	ENST00000332180	ensembl	human	known	74_37	nonsense	29.03	44	18	SNP	1.000	T	T	105551051	G	T	105551051	4	4	127	1	0	0	0	0	0	1	0	0	8233	943	33	3	2973	3	KIAA1033	12	105551051	Nonsense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	1031096	105551051	28300844	154	32875											
KSR2	283455	genome.wustl.edu	37	chr12	117977636	117977636	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ggcgaggagggcgtggaggaCgtcgtggaggaggggttgct	6	6	24	5	4	0	0	0	0	0	0	1	6	0	5	0	9	1	2	0	9	0	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:117977636C>T	ENST00000339824.5	-	10	2302	c.1575G>A	c.(1573-1575)acG>acA	p.T525T	KSR2_ENST00000425217.1_Silent_p.T496T|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.T222T			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	525	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGTGGAGGACGTCGTGGAGG	0.637																																																	0													93	115	108					12																	117977636		2154	4246	6400	SO:0001819	synonymous_variant	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1575G>A	12.37:g.117977636C>T			A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.T525	ENST00000339824.5	37	c.1575		12																																																																																			KSR2	-	NULL	ENSG00000171435		0.637	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	-	0	38	0	C	NM_173598		117977636	-1	tier1	-	no_errors	ENST00000339824	ensembl	human	known	74_37	silent	62.16	14	23	SNP	0.850	T	T	117977636	C	T	117977636	2	4	127	1	0	0	0	0	0	0	0	1	8610	523	19	1		1	KSR2	12	117977636	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	12426585	117977636	15874259	155	32876											
GCN1L1	10985	genome.wustl.edu	37	chr12	120586115	120586115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgacagctgcttaggagCacagtacgccattgccccaa	11	7	11	12	1	0	1	0	1	0	0	0	3	0	3	3	2	5	4	3	2	3	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:120586115C>T	ENST00000300648.6	-	37	4594	c.4582G>A	c.(4582-4584)Gct>Act	p.A1528T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1528					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)					TGCTTAGGAGCACAGTACGCC	0.552																																																	0													85	92	89					12																	120586115		2140	4242	6382	SO:0001583	missense	0			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.4582G>A	12.37:g.120586115C>T	ENSP00000300648:p.Ala1528Thr		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A1528T	ENST00000300648.6	37	c.4582	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357303	0.82243	.	.	ENSG00000089154	ENST00000300648	T	0.64803	-0.12	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84314	0.0512	10	0.44086	T	0.13	.	18.7095	0.91651	0.0:1.0:0.0:0.0	.	1528	Q92616	GCN1L_HUMAN	T	1528	ENSP00000300648:A1528T	ENSP00000300648:A1528T	A	-	1	0	GCN1L1	119070498	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	7.583000	0.82559	2.435000	0.82474	0.313000	0.20887	GCT	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.552	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	-	0	62	0	C			120586115	-1	tier1	-	no_errors	ENST00000300648	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	120586115	C	T	120586115	3	4	127	1	0	0	0	0	1	0	0	0	6324	710	25	3	3521	3	GCN1L1	12	120586115	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	2608479	120586115	13265780	156	32877											
BCL7A	605	genome.wustl.edu	37	chr12	122473259	122473259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacaagaataagaaaaaagGcaaggacgagaagtgtggct	21	4	12	4	1	0	3	0	0	0	3	0	5	0	4	0	3	1	2	0	3	9	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr12:122473259G>T	ENST00000261822.4	+	3	403	c.197G>T	c.(196-198)gGc>gTc	p.G66V	BCL7A_ENST00000538010.1_Missense_Mutation_p.G66V	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	66					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AAGAAAAAAGGCAAGGACGAG	0.547			T	MYC	BNHL																																GBM(17;197 467 16477 23242 44349)			Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	0													93	83	86					12																	122473259		2203	4300	6503	SO:0001583	missense	0			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.197G>T	12.37:g.122473259G>T	ENSP00000261822:p.Gly66Val		B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	pfam_BCL7	p.G66V	ENST00000261822.4	37	c.197	CCDS53841.1	12	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248602	0.80024	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.49139	0.79;0.79	6.17	5.29	0.74685	.	0.153108	0.64402	D	0.000015	T	0.35307	0.0927	N	0.24115	0.695	0.80722	D	1	P;P	0.45827	0.79;0.867	B;B	0.44085	0.255;0.44	T	0.09662	-1.0664	10	0.26408	T	0.33	.	10.1789	0.42955	0.072:0.1362:0.7918:0.0	.	66;66	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	V	66	ENSP00000445868:G66V;ENSP00000261822:G66V	ENSP00000261822:G66V	G	+	2	0	BCL7A	120957642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.957000	0.76019	1.636000	0.50526	0.655000	0.94253	GGC	BCL7A	-	NULL	ENSG00000110987		0.547	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	BCL7A	HGNC	protein_coding	OTTHUMT00000401712.1	-	0	71	0	G			122473259	1	tier1	-	no_errors	ENST00000538010	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	122473259	G	T	122473259	3	4	127	1	0	0	0	0	1	0	0	0	1379	1203	42	3	207	3	BCL7A	12	122473259	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	1887144	122473259	11378636	157	32878											
SACS	26278	genome.wustl.edu	37	chr13	23911518	23911518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tttcagctactgacactgcaCgttctagcatatcatcccat	10	13	5	13	1	3	1	2	1	1	0	4	1	4	1	1	0	4	4	1	0	3	5	rs200888451		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr13:23911518C>T	ENST00000382292.3	-	9	6770	c.6497G>A	c.(6496-6498)cGt>cAt	p.R2166H	SACS_ENST00000382298.3_Missense_Mutation_p.R2166H|SACS_ENST00000402364.1_Missense_Mutation_p.R1416H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2166					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)		TGACACTGCACGTTCTAGCAT	0.328																																																	0													72	69	70					13																	23911518		2203	4299	6502	SO:0001583	missense	0			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.6497G>A	13.37:g.23911518C>T	ENSP00000371729:p.Arg2166His		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.R2166H	ENST00000382292.3	37	c.6497	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	18.19	3.567978	0.65651	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.90261	-2.5;-2.64;-2.5	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.94374	0.8191	M	0.65498	2.005	0.51482	D	0.999928	D	0.76494	0.999	P	0.59948	0.866	D	0.94248	0.7491	10	0.87932	D	0	.	20.3311	0.98718	0.0:1.0:0.0:0.0	.	2166	Q9NZJ4	SACS_HUMAN	H	2166;1416;2166	ENSP00000371729:R2166H;ENSP00000385844:R1416H;ENSP00000371735:R2166H	ENSP00000371729:R2166H	R	-	2	0	SACS	22809518	1.000000	0.71417	0.940000	0.37924	0.362000	0.29581	7.487000	0.81328	2.803000	0.96430	0.650000	0.86243	CGT	SACS	-	NULL	ENSG00000151835		0.328	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	28	0	C	NM_014363		23911518	-1	tier1	rs200888451	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	59.38	13	19	SNP	1.000	T	T	23911518	C	T	23911518	3	4	127	1	0	0	0	0	1	0	0	0	13849	536	19	1	7246	1	SACS	13	23911518	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09		23911518	91258360	158	32879											
TRPC4	7223	genome.wustl.edu	37	chr13	38266166	38266166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	cggtaatatcatccactcgaCgatggttggtggtggacctt	8	12	12	9	3	1	0	1	0	0	0	3	3	2	1	2	5	0	2	2	5	2	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr13:38266166C>A	ENST00000379705.3	-	4	2061	c.1204G>T	c.(1204-1206)Gtc>Ttc	p.V402F	TRPC4_ENST00000379679.1_Missense_Mutation_p.V229F|TRPC4_ENST00000447043.1_Missense_Mutation_p.V402F|TRPC4_ENST00000379673.2_Missense_Mutation_p.V402F|TRPC4_ENST00000355779.2_Missense_Mutation_p.V402F|TRPC4_ENST00000426868.2_Missense_Mutation_p.V402F|TRPC4_ENST00000379681.3_Missense_Mutation_p.V402F|TRPC4_ENST00000358477.2_Missense_Mutation_p.V402F|TRPC4_ENST00000338947.5_Missense_Mutation_p.V229F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	402					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCCACTCGACGATGGTTGGT	0.443																																																	0													97	88	91					13																	38266166		2203	4300	6503	SO:0001583	missense	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1204G>T	13.37:g.38266166C>A	ENSP00000369027:p.Val402Phe		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.V402F	ENST00000379705.3	37	c.1204	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946781	0.92593	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	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	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.91482	0.7311	M	0.74647	2.275	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	0.87578	0.997;0.995;0.998;0.998;0.997;0.995	D	0.91431	0.5166	10	0.72032	D	0.01	-24.99	20.1931	0.98233	0.0:1.0:0.0:0.0	.	402;402;402;229;402;402	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	F	402;402;229;229;402;402;402;402;402	ENSP00000369027:V402F;ENSP00000369003:V402F;ENSP00000342580:V229F;ENSP00000369001:V229F;ENSP00000410133:V402F;ENSP00000348025:V402F;ENSP00000351264:V402F;ENSP00000368995:V402F;ENSP00000414316:V402F	ENSP00000342580:V229F	V	-	1	0	TRPC4	37164166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.087000	0.71362	2.771000	0.95319	0.563000	0.77884	GTC	TRPC4	-	tigrfam_TRP_channel	ENSG00000133107		0.443	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	-	0	48	0	C	NM_003306		38266166	-1	tier1	-	no_errors	ENST00000379681	ensembl	human	known	74_37	missense	59.38	13	19	SNP	1.000	A	A	38266166	C	A	38266166	3	1	127	1	0	0	0	0	1	0	0	0	16628	536	19	2	1776	2	TRPC4	13	38266166	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	14354648	38266166	76903712	159	32880											
KBTBD7	84078	genome.wustl.edu	37	chr13	41767432	41767434	+	In_Frame_Del	DEL	CTG	CTG	-																															caagagagttgctgctgctaCtgctgctgctgctgtttggc																								rs552076358		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr13:41767432_41767434delCTG	ENST00000379483.3	-	1	1268_1270	c.960_962delCAG	c.(958-963)agcagt>agt	p.320_321SS>S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	320										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		gctgctgctactgctgctgctgc	0.512																																																	0																																										SO:0001651	inframe_deletion	0			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.960_962delCAG	13.37:g.41767441_41767443delCTG	ENSP00000368797:p.Ser324del		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	In_Frame_Del	DEL	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S324in_frame_del	ENST00000379483.3	37	c.962_960	CCDS9377.1	13																																																																																			KBTBD7	-	pirsf_Kelch-like_gigaxonin	ENSG00000120696		0.512	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1		0	32	0	CTG	NM_032138		41767434	-1	tier1		no_errors	ENST00000379483	ensembl	human	known	74_37	in_frame_del	13.64	19	3	DEL	0.559:0.829:0.997	-	-	41767434	CTG	-	41767432	7	5	127	1	0	1	0	1	0	0	0	0	8025	565	20	0	1096	0	KBTBD7	13	41767432	In_Frame_Del	DEL	CTG	TCGA-LN-A7HY-01A-12D-A351-09	3501266	41767432	73402446	160	32881											
TPP2	7174	genome.wustl.edu	37	chr13	103266526	103266526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctatgacttctatcctaagGcactcaaggaaaggatacag	14	9	9	9	0	2	1	1	1	1	0	3	3	3	3	1	3	1	2	1	3	6	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr13:103266526G>A	ENST00000376065.4	+	3	406	c.370G>A	c.(370-372)Gca>Aca	p.A124T	TPP2_ENST00000376052.3_Missense_Mutation_p.A124T	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	124	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)					CTATCCTAAGGCACTCAAGGA	0.368																																																	0													105	99	101					13																	103266526		2203	4300	6503	SO:0001583	missense	0			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.370G>A	13.37:g.103266526G>A	ENSP00000365233:p.Ala124Thr		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.A124T	ENST00000376065.4	37	c.370	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205236	0.79127	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.42	5.42	0.78866	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	N	0.16368	0.405	0.80722	D	1	P	0.49185	0.92	B	0.42462	0.388	T	0.18681	-1.0329	9	0.14252	T	0.57	.	19.2242	0.93812	0.0:0.0:1.0:0.0	.	124	P29144	TPP2_HUMAN	T	124	.	ENSP00000365220:A124T	A	+	1	0	TPP2	102064527	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.529000	0.81952	2.553000	0.86117	0.591000	0.81541	GCA	TPP2	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000134900		0.368	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	-	0	49	0	G			103266526	1	tier1	-	no_errors	ENST00000376065	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A	A	103266526	G	A	103266526	3	1	127	1	0	0	0	0	1	0	0	0	16460	1203	42	3	380	3	TPP2	13	103266526	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	61499094	103266526	11903352	161	32882											
ERCC5	2073	genome.wustl.edu	37	chr13	103524642	103524642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacggacattgcaactcaccCctggctttcctaacccagct	9	10	6	16	1	1	0	1	0	0	0	2	1	2	1	4	2	5	3	4	2	3	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr13:103524642C>T	ENST00000355739.4	+	13	4196	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S	ERCC5_ENST00000375954.1_Missense_Mutation_p.P158S|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P1350L	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	925					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCAACTCACCCCTGGCTTTCC	0.458			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	0													89	85	86					13																	103524642		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2773C>T	13.37:g.103524642C>T	ENSP00000347978:p.Pro925Ser		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes	p.P925S	ENST00000355739.4	37	c.2773	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822189	0.32237	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.62941	-0.01;-0.01	5.69	4.85	0.62838	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.169892	0.52532	D	0.000062	T	0.44456	0.1294	L	0.31752	0.955	0.80722	D	1	B;B	0.29085	0.232;0.073	B;B	0.23419	0.039;0.046	T	0.30090	-0.9990	10	0.10636	T	0.68	-18.8248	10.6466	0.45623	0.0:0.7891:0.1347:0.0762	.	925;1350	P28715;Q59FZ7	ERCC5_HUMAN;.	S	1350;925;757;158	ENSP00000347978:P925S;ENSP00000365121:P158S	ENSP00000347978:P925S	P	+	1	0	ERCC5	102322643	0.301000	0.24444	0.872000	0.34217	0.697000	0.40408	1.373000	0.34272	1.398000	0.46701	-0.150000	0.13652	CCT	ERCC5	-	superfamily_5-3_exonuclease_C,tigrfam_XPG/Rad2_eukaryotes	ENSG00000134899		0.458	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	HGNC	protein_coding	OTTHUMT00000045708.1	-	0	65	0	C			103524642	1	tier1	-	no_errors	ENST00000355739	ensembl	human	known	74_37	missense	53.25	36	41	SNP	0.940	T	T	103524642	C	T	103524642	3	4	127	1	0	0	0	0	1	0	0	0	5232	623	22	3	2823	3	ERCC5	13	103524642	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	258116	103524642	11645236	162	32883											
ATP4B	496	genome.wustl.edu	37	chr13	114307313	114307313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacttggtgtggttgggagCgcggaaactctcctggaaga	9	9	16	7	2	1	1	0	0	1	1	2	5	1	4	1	5	3	1	1	5	3	2	rs202021919		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr13:114307313C>T	ENST00000335288.4	-	4	471	c.430G>A	c.(430-432)Gct>Act	p.A144T		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	144					cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			TGGTTGGGAGCGCGGAAACTC	0.587																																																	0								C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	114	101	106		430	4.7	0.3	13		106	0,8600		0,0,4300	yes	missense	ATP4B	NM_000705.3	58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	144/292	114307313	3,13003	2203	4300	6503	SO:0001583	missense	0				CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"ATPases / P-type"	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.430G>A	13.37:g.114307313C>T	ENSP00000334216:p.Ala144Thr		B1B0N8	Missense_Mutation	SNP	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	p.A144T	ENST00000335288.4	37	c.430	CCDS9539.1	13	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944085	0.53079	6.81E-4	0.0	ENSG00000186009	ENST00000335288	T	0.30448	1.53	4.7	4.7	0.59300	.	0.079246	0.47852	D	0.000205	T	0.50257	0.1605	M	0.79123	2.44	0.40287	D	0.978464	D	0.69078	0.997	P	0.62560	0.904	T	0.50224	-0.8853	10	0.14252	T	0.57	-8.0652	14.9312	0.70916	0.0:1.0:0.0:0.0	.	144	P51164	ATP4B_HUMAN	T	144	ENSP00000334216:A144T	ENSP00000334216:A144T	A	-	1	0	ATP4B	113355314	0.979000	0.34478	0.260000	0.24451	0.079000	0.17450	5.635000	0.67841	2.303000	0.77524	0.491000	0.48974	GCT	ATP4B	-	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	ENSG00000186009		0.587	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4B	HGNC	protein_coding	OTTHUMT00000276703.2		0	29	0	C	NM_000705		114307313	-1			no_errors	ENST00000335288	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.944	T	T	114307313	C	T	114307313	3	4	127	1	0	0	0	0	1	0	0	0	1147	768	27	1	461	1	ATP4B	13	114307313	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	10782671	114307313	862565	163	32884											
GAS6	2621	genome.wustl.edu	37	chr13	114541138	114541138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatctggaggcagccccCgttctcctggctgcattcgt	5	10	12	14	2	2	1	0	0	2	1	4	2	2	2	3	3	2	5	3	3	0	2	rs376538659		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr13:114541138C>A	ENST00000327773.6	-	6	639	c.493G>T	c.(493-495)Ggg>Tgg	p.G165W	GAS6_ENST00000450766.1_5'Flank|GAS6_ENST00000355761.4_Missense_Mutation_p.G111W|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.G165W	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	165	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGGCAGCCCCCGTTCTCCTGG	0.602																																																	0													101	93	96					13																	114541138		2203	4300	6503	SO:0001583	missense	0				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.493G>T	13.37:g.114541138C>A	ENSP00000331831:p.Gly165Trp		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.G165W	ENST00000327773.6	37	c.493	CCDS45072.1	13	.	.	.	.	.	.	.	.	.	.	c	17.55	3.417118	0.62511	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000327773	D;D;D	0.98493	-4.96;-4.96;-4.96	4.99	4.99	0.66335	.	.	.	.	.	D	0.99492	0.9819	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97828	1.0261	9	0.87932	D	0	-44.5122	18.2836	0.90107	0.0:1.0:0.0:0.0	.	165	Q14393-2	.	W	165;111;165	ENSP00000349962:G165W;ENSP00000348003:G111W;ENSP00000331831:G165W	ENSP00000331831:G165W	G	-	1	0	GAS6	113572805	0.991000	0.36638	0.865000	0.33974	0.316000	0.28119	3.722000	0.54948	2.305000	0.77605	0.486000	0.48141	GGG	GAS6	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000183087		0.602	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	-	0	115	0	C	NM_000820		114541138	-1	tier1	-	no_errors	ENST00000357389	ensembl	human	known	74_37	missense	54.00	46	54	SNP	0.999	A	A	114541138	C	A	114541138	3	1	127	1	0	0	0	0	1	0	0	0	6274	652	23	2	1583	2	GAS6	13	114541138	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	233825	114541138	628740	164	32885											
DHRS2	10202	genome.wustl.edu	37	chr14	24114459	24114459	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggctactccactcggctCtgagaggagtgggggcggct	6	7	17	11	2	1	1	0	1	1	1	3	3	2	2	1	6	1	4	1	6	1	1	rs144980250		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr14:24114459C>G	ENST00000250383.6	+	9	1316	c.840C>G	c.(838-840)ctC>ctG	p.L280L	DHRS2_ENST00000344777.7_Missense_Mutation_p.S284C	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	280					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCACTCGGCTCTGAGAGGAGT	0.602																																																	0									,CYS/SER	0,4406		0,0,2203	75	71	73		840,851	1.2	0.4	14	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,missense	DHRS2	NM_005794.3,NM_182908.4	,112	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	,benign	280/281,284/301	24114459	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18349	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 1"	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.840C>G	14.37:g.24114459C>G			D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.S284C	ENST00000250383.6	37	c.851	CCDS9604.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.13|16.13	3.037095|3.037095	0.54896|0.54896	0.0|0.0	1.16E-4|1.16E-4	ENSG00000100867|ENSG00000100867	ENST00000557535|ENST00000344777	D|D	0.85955|0.82619	-2.05|-1.63	4.51|4.51	1.19|1.19	0.21007|0.21007	.|.	.|0.411149	.|0.26911	.|N	.|0.021868	T|T	0.76278|0.76278	0.3965|0.3965	.|.	.|.	.|.	0.20489|0.20489	N|N	0.999897|0.999897	.|B	.|0.19935	.|0.04	.|B	.|0.23018	.|0.043	T|T	0.69506|0.69506	-0.5127|-0.5127	5|9	.|0.66056	.|D	.|0.02	.|.	12.4401|12.4401	0.55619|0.55619	0.0:0.384:0.616:0.0|0.0:0.384:0.616:0.0	.|.	.|262	.|Q13268-2	.|.	V|C	180|284	ENSP00000451895:L180V|ENSP00000344674:S284C	.|ENSP00000344674:S284C	L|S	+|+	1|2	2|0	DHRS2|DHRS2	23184299|23184299	0.976000|0.976000	0.34144|0.34144	0.355000|0.355000	0.25773|0.25773	0.107000|0.107000	0.19398|0.19398	-0.165000|-0.165000	0.09968|0.09968	0.505000|0.505000	0.28104|0.28104	0.557000|0.557000	0.71058|0.71058	CTG|TCT	DHRS2	-	NULL	ENSG00000100867		0.602	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DHRS2	HGNC	protein_coding	OTTHUMT00000071842.2	-	0	35	0	C	NM_182908		24114459	1	tier1	rs144980250	no_errors	ENST00000344777	ensembl	human	known	74_37	missense	38.46	32	20	SNP	0.676	G	G	24114459	C	G	24114459	2	3	127	1	0	0	0	0	0	0	0	1	4504	913	32	5		5	DHRS2	14	24114459	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09		24114459	83235081	165	32886											
FOXG1	2290	genome.wustl.edu	37	chr14	29237879	29237879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctctttgccaagttttacgaCgggactgtctgggggactgt	6	13	13	9	2	2	0	0	0	2	0	2	3	2	2	1	3	2	1	1	3	2	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr14:29237879C>T	ENST00000313071.4	+	1	1593	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M	FOXG1_ENST00000382535.3_Missense_Mutation_p.T465M	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	465					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T465M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGTTTTACGACGGGACTGTCT	0.542																																																	1	Substitution - Missense(1)	endometrium(1)											86	85	86					14																	29237879		2203	4300	6503	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1394C>T	14.37:g.29237879C>T	ENSP00000339004:p.Thr465Met		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T465M	ENST00000313071.4	37	c.1394	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979189	0.53827	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94184	-3.37;-3.37	4.14	4.14	0.48551	.	0.135902	0.49305	U	0.000141	D	0.88385	0.6422	N	0.08118	0	0.45621	D	0.998552	D	0.61080	0.989	P	0.47470	0.548	D	0.91427	0.5163	10	0.87932	D	0	.	16.7792	0.85559	0.0:1.0:0.0:0.0	.	465	P55316	FOXG1_HUMAN	M	465	ENSP00000371975:T465M;ENSP00000339004:T465M	ENSP00000339004:T465M	T	+	2	0	FOXG1	28307630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.293000	0.78740	2.006000	0.58801	0.491000	0.48974	ACG	FOXG1	-	NULL	ENSG00000176165		0.542	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0	83	0	C			29237879	1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	9.01	100	10	SNP	1.000	T	T	29237879	C	T	29237879	3	4	127	1	0	0	0	0	1	0	0	0	6031	536	19	1	1396	1	FOXG1	14	29237879	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	5123420	29237879	78111661	166	32887											
COCH	1690	genome.wustl.edu	37	chr14	31348140	31348140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagatggtctgcttctttCacagtaactagtaggtataa	11	15	8	7	0	4	1	1	0	3	1	4	1	4	1	0	2	2	4	0	2	6	8			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr14:31348140C>A	ENST00000396618.3	+	5	419	c.363C>A	c.(361-363)ttC>ttA	p.F121L	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_5'Flank|COCH_ENST00000216361.4_Missense_Mutation_p.F121L|COCH_ENST00000475087.1_Missense_Mutation_p.F121L|COCH_ENST00000460581.2_Missense_Mutation_p.F9L	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	121	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				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)		CTGCTTCTTTCACAGTAACTA	0.413																																																	0													152	144	147					14																	31348140		2203	4300	6503	SO:0001583	missense	0				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.363C>A	14.37:g.31348140C>A	ENSP00000379862:p.Phe121Leu		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.F121L	ENST00000396618.3	37	c.363	CCDS9640.1	14	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786294	0.70337	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908;ENST00000460581;ENST00000542225	D;D;D;D;T	0.90620	-2.7;-2.7;-2.7;-2.7;-0.29	5.87	5.87	0.94306	LCCL (4);	0.000000	0.85682	D	0.000000	D	0.95478	0.8531	M	0.80183	2.485	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.989	D	0.95237	0.8348	10	0.59425	D	0.04	-14.7785	17.979	0.89134	0.0:1.0:0.0:0.0	.	121;121	Q96IU6;O43405	.;COCH_HUMAN	L	121;121;121;105;9;9	ENSP00000216361:F121L;ENSP00000379862:F121L;ENSP00000451528:F121L;ENSP00000452541:F105L;ENSP00000451713:F9L	ENSP00000216361:F121L	F	+	3	2	COCH	30417891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.681000	0.54648	2.785000	0.95823	0.655000	0.94253	TTC	COCH	-	pfam_LCCL,superfamily_LCCL,pfscan_LCCL	ENSG00000100473		0.413	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	COCH	HGNC	protein_coding	OTTHUMT00000276608.1	-	0	48	0	C	NM_004086		31348140	1	tier1	-	no_errors	ENST00000216361	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	A	A	31348140	C	A	31348140	3	1	127	1	0	0	0	0	1	0	0	0	3663	825	29	3	377	3	COCH	14	31348140	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	2110261	31348140	76001400	167	32888											
FAM179B	23116	genome.wustl.edu	37	chr14	45542728	45542728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catatcaaaaagagtttggaGgaattactcgatatgacaat	17	11	8	5	1	1	2	1	1	0	1	2	5	1	4	0	2	1	1	0	2	7	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr14:45542728G>C	ENST00000361577.3	+	19	5341	c.5127G>C	c.(5125-5127)gaG>gaC	p.E1709D	FAM179B_ENST00000361462.2_Missense_Mutation_p.E1762D|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1709										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGAGTTTGGAGGAATTACTCG	0.338																																																	0													71	69	69					14																	45542728		2203	4300	6503	SO:0001583	missense	0			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.5127G>C	14.37:g.45542728G>C	ENSP00000355045:p.Glu1709Asp		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1709D	ENST00000361577.3	37	c.5127	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918146	0.52546	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	T;T;T	0.21543	2.0;2.0;2.0	5.78	0.928	0.19443	Armadillo-type fold (1);	0.106415	0.64402	D	0.000004	T	0.25827	0.0629	L	0.36672	1.1	0.80722	D	1	P;P	0.52316	0.694;0.952	B;P	0.53649	0.403;0.731	T	0.01312	-1.1388	10	0.72032	D	0.01	-18.3756	12.1981	0.54309	0.1755:0.0:0.8245:0.0	.	1762;1709	G3XAE9;Q9Y4F4	.;F179B_HUMAN	D	1709;1762;144	ENSP00000355045:E1709D;ENSP00000354917:E1762D;ENSP00000450465:E144D	ENSP00000354917:E1762D	E	+	3	2	FAM179B	44612478	0.992000	0.36948	0.998000	0.56505	0.979000	0.70002	0.268000	0.18571	-0.070000	0.12908	0.655000	0.94253	GAG	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.338	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	-	0	37	0	G	XM_113781		45542728	1	tier1	-	no_errors	ENST00000361577	ensembl	human	known	74_37	missense	35.82	43	24	SNP	0.992	C	C	45542728	G	C	45542728	3	2	127	1	0	0	0	0	1	0	0	0	5525	991	35	5	5201	5	FAM179B	14	45542728	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	14194588	45542728	61806812	168	32889											
C14orf166	51637	genome.wustl.edu	37	chr14	52466445	52466445	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaaataatcctgattttaaGgctggtgtgatggctttggc	9	15	12	5	0	0	2	0	2	0	0	1	2	1	2	1	4	0	3	1	4	4	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr14:52466445G>A	ENST00000261700.3	+	5	558	c.393G>A	c.(391-393)aaG>aaA	p.K131K	C14orf166_ENST00000556760.1_Silent_p.K131K	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	131					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)					CTGATTTTAAGGCTGGTGTGA	0.338																																																	0													111	99	103					14																	52466445		2203	4300	6503	SO:0001819	synonymous_variant	0			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.393G>A	14.37:g.52466445G>A				Silent	SNP	pfam_UPF0568	p.K131	ENST00000261700.3	37	c.393	CCDS9705.1	14																																																																																			C14orf166	-	pfam_UPF0568	ENSG00000087302		0.338	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166	HGNC	protein_coding	OTTHUMT00000276887.1	-	0	49	0	G	NM_016039		52466445	1	tier1	-	no_errors	ENST00000261700	ensembl	human	known	74_37	silent	39.62	32	21	SNP	1.000	A	A	52466445	G	A	52466445	2	1	127	1	0	0	0	0	0	0	0	1	1761	991	35	3		3	C14orf166	14	52466445	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	6923717	52466445	54883095	169	32890											
C14orf43	91748	genome.wustl.edu	37	chr14	74196531	74196531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcagctaggcgcacgggaGagcgcaggtggctctggtat	7	7	18	9	3	2	1	1	0	1	1	2	2	2	1	0	6	2	5	0	6	2	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr14:74196531G>C	ENST00000286523.5	-	4	2689	c.1907C>G	c.(1906-1908)tCt>tGt	p.S636C	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.S636C	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	636					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GCGCACGGGAGAGCGCAGGTG	0.672																																																	0													60	58	59					14																	74196531		2203	4300	6503	SO:0001583	missense	0			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.1907C>G	14.37:g.74196531G>C	ENSP00000286523:p.Ser636Cys		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.S636C	ENST00000286523.5	37	c.1907	CCDS9819.1	14	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817877	0.90790	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.23147	1.92;1.92;1.92;1.93	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000013	T	0.56156	0.1966	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.61973	-0.6952	10	0.87932	D	0	-15.0593	18.8794	0.92351	0.0:0.0:1.0:0.0	.	636;636	A0PJD3;Q6PJG2	.;CN043_HUMAN	C	636	ENSP00000377634:S636C;ENSP00000286523:S636C;ENSP00000407767:S636C;ENSP00000402380:S636C	ENSP00000286523:S636C	S	-	2	0	C14orf43	73266284	1.000000	0.71417	0.969000	0.41365	0.908000	0.53690	9.859000	0.99545	2.441000	0.82636	0.478000	0.44815	TCT	ELMSAN1	-	NULL	ENSG00000156030		0.672	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	-	0	51	0	G	NM_194278		74196531	-1	tier1	-	no_errors	ENST00000286523	ensembl	human	known	74_37	missense	36.62	45	26	SNP	1.000	C	C	74196531	G	C	74196531	3	2	127	1	0	0	0	0	1	0	0	0	1779	942	33	5	1266	5	C14orf43	14	74196531	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	21730086	74196531	33153009	170	32891											
KIAA1737	85457	genome.wustl.edu	37	chr14	77572068	77572068	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatggagaggaaaaaccCatccagagagagccccagaa	18	2	10	11	0	0	4	0	0	0	4	1	7	1	5	5	2	3	0	5	2	4	0	rs377615689		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr14:77572068C>G	ENST00000361786.2	+	2	334	c.17C>G	c.(16-18)cCa>cGa	p.P6R	KIAA1737_ENST00000555437.1_Missense_Mutation_p.P6R|RP11-463C8.4_ENST00000557752.1_Missense_Mutation_p.P6R|KIAA1737_ENST00000555611.1_Missense_Mutation_p.P6R	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		6					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)		AGGAAAAACCCATCCAGAGAG	0.473																																																	0													99	102	101					14																	77572068		2203	4300	6503	SO:0001583	missense	0																														ENST00000361786.2:c.17C>G	14.37:g.77572068C>G	ENSP00000355319:p.Pro6Arg		B2RCI1|Q8N389|Q8NDZ1	Missense_Mutation	SNP	NULL	p.P6R	ENST00000361786.2	37	c.17	CCDS9855.1	14	.	.	.	.	.	.	.	.	.	.	C	12.51	1.961003	0.34565	.	.	ENSG00000198894	ENST00000361786;ENST00000555437;ENST00000555611;ENST00000554658;ENST00000557115;ENST00000554447;ENST00000555200	T;T;T;T;T;T;T	0.58940	1.2;0.3;0.64;0.69;0.71;0.66;0.68	5.63	5.63	0.86233	.	0.282367	0.35407	N	0.003234	T	0.51770	0.1694	L	0.27053	0.805	0.09310	N	1	B	0.29162	0.235	B	0.39840	0.311	T	0.52215	-0.8605	10	0.44086	T	0.13	-1.0163	13.4756	0.61306	0.1558:0.8442:0.0:0.0	.	6	Q9C0C6	K1737_HUMAN	R	6	ENSP00000355319:P6R;ENSP00000451997:P6R;ENSP00000450972:P6R;ENSP00000451522:P6R;ENSP00000452589:P6R;ENSP00000452380:P6R;ENSP00000451493:P6R	ENSP00000355319:P6R	P	+	2	0	KIAA1737	76641821	0.008000	0.16893	0.140000	0.22221	0.641000	0.38312	1.415000	0.34748	2.661000	0.90470	0.637000	0.83480	CCA	KIAA1737	-	NULL	ENSG00000198894		0.473	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1737	HGNC	protein_coding	OTTHUMT00000414278.1	-	0	58	0	C			77572068	1	tier1	-	no_errors	ENST00000361786	ensembl	human	known	74_37	missense	28.85	37	15	SNP	0.073	G	G	77572068	C	G	77572068	3	3	127	1	0	0	0	0	1	0	0	0	8282	594	21	5	19	5	KIAA1737	14	77572068	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	3375537	77572068	29777472	171	32892											
ASB2	51676	genome.wustl.edu	37	chr14	94413850	94413850	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgcgttgtcgctggcctgCgtgttgatgtcagcacctgg	4	11	15	11	4	1	1	1	1	0	0	2	2	1	1	2	2	2	4	2	2	0	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr14:94413850C>A	ENST00000315988.4	-	5	1241	c.753G>T	c.(751-753)acG>acT	p.T251T	ASB2_ENST00000555019.1_Silent_p.T299T|ASB2_ENST00000556337.1_Intron|MIR4506_ENST00000584693.1_RNA	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	251					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)		CGCTGGCCTGCGTGTTGATGT	0.592																																																	0													139	112	121					14																	94413850		2203	4300	6503	SO:0001819	synonymous_variant	0			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.753G>T	14.37:g.94413850C>A			B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.T251	ENST00000315988.4	37	c.753	CCDS9915.1	14																																																																																			ASB2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000100628		0.592	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	-	0	71	0	C			94413850	-1	tier1	-	no_errors	ENST00000315988	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.379	A	A	94413850	C	A	94413850	2	1	127	1	0	0	0	0	0	0	0	1	1024	755	27	2		2	ASB2	14	94413850	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	16841782	94413850	12935690	172	32893											
TECPR2	9895	genome.wustl.edu	37	chr14	102880972	102880972	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaccagactttctctgccaGgggctctgtaactcccagct	8	11	8	14	0	2	1	0	0	2	1	4	1	3	1	3	2	4	3	3	2	2	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr14:102880972G>T	ENST00000359520.7	+	5	706		c.e5-1		TECPR2_ENST00000558678.1_Splice_Site|TECPR2_ENST00000561228.1_Splice_Site	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2						autophagy (GO:0006914)|cell death (GO:0008219)			p.?(1)		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						TTCTCTGCCAGGGGCTCTGTA	0.527																																																	1	Unknown(1)	lung(1)											137	125	129					14																	102880972		2203	4300	6503	SO:0001630	splice_region_variant	0			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.481-1G>T	14.37:g.102880972G>T			A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Splice_Site	SNP	-	e4-1	ENST00000359520.7	37	c.481-1	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205430	0.39003	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0633	0.89383	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TECPR2	101950725	1.000000	0.71417	0.998000	0.56505	0.107000	0.19398	9.349000	0.97066	2.228000	0.72767	0.561000	0.74099	.	TECPR2	-	-	ENSG00000196663		0.527	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2		0	62	0	G	NM_014844	Intron	102880972	1			no_errors	ENST00000359520	ensembl	human	known	74_37	splice_site	6.82	41	3	SNP	1.000	T	T	102880972	G	T	102880972	5	4	127	1	0	0	0	0	0	0	1	0	15791	1014	35	3	494	3	TECPR2	14	102880972	Splice_Site	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	8467122	102880972	4468568	173	32894											
ASPG	374569	genome.wustl.edu	37	chr14	104573571	104573571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaaccccactgcacgcggCcgcccggggaggccacacag	9	1	12	19	4	0	0	0	0	0	0	0	1	0	1	6	4	2	1	6	4	1	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr14:104573571C>T	ENST00000551177.1	+	12	1414	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V	ASPG_ENST00000546892.2_Missense_Mutation_p.A441V|ASPG_ENST00000455920.2_Missense_Mutation_p.A441V	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	441					asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CTGCACGCGGCCGCCCGGGGA	0.667																																																	0													32	41	38					14																	104573571		2065	4195	6260	SO:0001583	missense	0				CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.1322C>T	14.37:g.104573571C>T	ENSP00000450040:p.Ala441Val		B9EGQ2|Q8IV80	Missense_Mutation	SNP	pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI	p.A441V	ENST00000551177.1	37	c.1322	CCDS45170.2	14	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136518	0.56936	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920;ENST00000550583	T;T;T;T	0.80909	-0.67;-1.43;-0.67;-0.67	4.62	4.62	0.57501	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	M	0.89163	3.01	0.54753	D	0.99998	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	0.92066	0.5660	10	0.87932	D	0	-21.1878	12.9635	0.58472	0.0:1.0:0.0:0.0	.	441;441;441;469	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	V	441;469;441;441;2	ENSP00000450040:A441V;ENSP00000448911:A441V;ENSP00000389003:A441V;ENSP00000446856:A2V	ENSP00000299234:A469V	A	+	2	0	ASPG	103643324	0.997000	0.39634	0.035000	0.18076	0.003000	0.03518	3.915000	0.56409	2.108000	0.64289	0.462000	0.41574	GCC	ASPG	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000166183		0.667	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPG	HGNC	protein_coding	OTTHUMT00000407005.1	-	0	99	0	C	NM_001080464		104573571	1	tier1	-	no_errors	ENST00000455920	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.839	T	T	104573571	C	T	104573571	3	4	127	1	0	0	0	0	1	0	0	0	1053	739	26	3	1368	3	ASPG	14	104573571	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	1692599	104573571	2775969	174	32895											
TRPM1	4308	genome.wustl.edu	37	chr15	31352747	31352747	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaaaaaaacagtttcacCggccagtggggcccaaagac	15	5	10	11	2	1	1	1	0	0	1	2	2	1	1	3	3	1	1	3	3	5	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr15:31352747C>A	ENST00000256552.6	-	11	1410	c.1263G>T	c.(1261-1263)ccG>ccT	p.P421P	TRPM1_ENST00000542188.1_Splice_Site_p.P438P|TRPM1_ENST00000397795.2_Splice_Site_p.P399P	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)		ACAGTTTCACCGGCCAGTGGG	0.448																																																	0													47	51	50					15																	31352747		1930	4136	6066	SO:0001630	splice_region_variant	0			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.1263+1G>T	15.37:g.31352747C>A				Silent	SNP	pfam_Ion_trans_dom	p.P438	ENST00000256552.6	37	c.1314	CCDS58346.1	15																																																																																			TRPM1	-	NULL	ENSG00000134160		0.448	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	-	0	63	0	C	NM_002420	Silent	31352747	-1	tier1	-	no_errors	ENST00000542188	ensembl	human	known	74_37	silent	6.67	54	4	SNP	1.000	A	A	31352747	C	A	31352747	5	1	127	1	0	0	0	0	0	0	1	0	16633	666	23	2	3686	2	TRPM1	15	31352747	Splice_Site	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09		31352747	71178645	175	32896											
BUB1B	701	genome.wustl.edu	37	chr15	40509785	40509785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgaccttagggtgcagctgGatgtttttaccctcagcggc	6	13	12	10	1	1	1	1	1	0	0	1	2	1	2	2	3	4	3	2	3	2	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr15:40509785G>T	ENST00000287598.6	+	21	2962	c.2767G>T	c.(2767-2769)Gat>Tat	p.D923Y	BUB1B_ENST00000412359.3_Missense_Mutation_p.D937Y|PAK6_ENST00000441369.1_5'UTR|PAK6_ENST00000453867.1_5'UTR|RP11-133K1.2_ENST00000558658.1_5'Flank	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	923	Protein kinase.				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)		GGTGCAGCTGGATGTTTTTAC	0.453			"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													238	237	237					15																	40509785		2203	4300	6503	SO:0001583	missense	0	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.2767G>T	15.37:g.40509785G>T	ENSP00000287598:p.Asp923Tyr		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I	p.D937Y	ENST00000287598.6	37	c.2809	CCDS10053.1	15	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642976	0.47153	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.21361	2.01;2.01	5.7	5.7	0.88788	.	0.321542	0.29185	N	0.012896	T	0.34919	0.0914	L	0.46885	1.475	0.50813	D	0.999896	D	0.57571	0.98	P	0.57425	0.82	T	0.01909	-1.1249	10	0.66056	D	0.02	-19.0139	14.7201	0.69300	0.0:0.1549:0.845:0.0	.	923	O60566	BUB1B_HUMAN	Y	923;937;806	ENSP00000287598:D923Y;ENSP00000398470:D937Y	ENSP00000287598:D923Y	D	+	1	0	BUB1B	38297077	0.168000	0.22989	0.171000	0.22900	0.840000	0.47671	2.787000	0.47798	2.675000	0.91044	0.591000	0.81541	GAT	BUB1B	-	NULL	ENSG00000156970		0.453	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	HGNC	protein_coding	OTTHUMT00000252122.4	-	0	84	0	G			40509785	1	tier1	-	no_errors	ENST00000412359	ensembl	human	known	74_37	missense	21.21	52	14	SNP	0.074	T	T	40509785	G	T	40509785	3	4	127	1	0	0	0	0	1	0	0	0	1575	1174	41	3	2849	3	BUB1B	15	40509785	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	9157038	40509785	62021607	176	32897											
IGDCC4	57722	genome.wustl.edu	37	chr15	65703488	65703488	+	Silent	SNP	C	C	T	0	0	0	1	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	ctgccattgggtgctagtggCtgggacagccacagggaacc	8	7	15	11	0	0	0	0	0	0	0	0	2	0	2	3	4	4	2	3	4	2	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr15:65703488C>T	ENST00000352385.2	-	2	500	c.291G>A	c.(289-291)caG>caA	p.Q97Q		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	97	Ig-like C2-type 1.					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						GTGCTAGTGGCTGGGACAGCC	0.632																																																	0													56	47	50					15																	65703488		2200	4299	6499	SO:0001819	synonymous_variant	0				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.291G>A	15.37:g.65703488C>T			Q9HCE4	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q97	ENST00000352385.2	37	c.291	CCDS10206.1	15																																																																																			IGDCC4	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000103742		0.632	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	-	0	78	0	C	NM_020962		65703488	-1	tier1	-	no_errors	ENST00000352385	ensembl	human	novel	74_37	silent	6.25	60	4	SNP	0.326	T	T	65703488	C	T	65703488	2	4	127	1	0	0	0	0	0	0	0	1	7596	796	28	3		3	IGDCC4	15	65703488	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	25193703	65703488	36827904	177	32898											
CYP1A1	1543	genome.wustl.edu	37	chr15	75014841	75014841	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	gcgccggccaaagcaaatggCacagatgacattggtcactg	12	6	12	11	2	1	2	1	1	0	1	1	2	1	2	2	3	1	2	2	3	2	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr15:75014841C>G	ENST00000379727.3	-	2	796	c.598G>C	c.(598-600)Gcc>Ccc	p.A200P	CYP1A1_ENST00000395048.2_Missense_Mutation_p.A200P|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000395049.4_Missense_Mutation_p.A200P|CYP1A1_ENST00000567032.1_Missense_Mutation_p.A200P			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	200					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	AAGCAAATGGCACAGATGACA	0.527									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																								0													97	94	95					15																	75014841		2197	4296	6493	SO:0001583	missense	0	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.598G>C	15.37:g.75014841C>G	ENSP00000369050:p.Ala200Pro		A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.A200P	ENST00000379727.3	37	c.598	CCDS10268.1	15	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578048	0.65878	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.69435	-0.4;-0.4;-0.4	5.04	5.04	0.67666	.	0.047913	0.85682	D	0.000000	D	0.86406	0.5925	M	0.92880	3.355	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.90033	0.4136	10	0.87932	D	0	.	18.4037	0.90526	0.0:1.0:0.0:0.0	.	200;200	E7EMT5;P04798	.;CP1A1_HUMAN	P	200	ENSP00000369050:A200P;ENSP00000378488:A200P;ENSP00000378489:A200P	ENSP00000268062:A200P	A	-	1	0	CYP1A1	72801894	1.000000	0.71417	0.997000	0.53966	0.219000	0.24729	7.692000	0.84203	2.327000	0.79052	0.561000	0.74099	GCC	CYP1A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000140465		0.527	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A1	HGNC	protein_coding	OTTHUMT00000286396.1	-	0	78	0	C	NM_000499		75014841	-1	tier1	-	no_errors	ENST00000379727	ensembl	human	known	74_37	missense	32.69	34	17	SNP	1.000	G	G	75014841	C	G	75014841	3	3	127	1	0	0	0	0	1	0	0	0	4158	710	25	5	964	5	CYP1A1	15	75014841	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	9311353	75014841	27516551	178	32899											
SGK269	79834	genome.wustl.edu	37	chr15	77473641	77473641	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgtgctcccactcagaaTaacatgcttgccctgagttt	8	14	7	12	0	2	2	1	1	1	1	3	2	3	2	2	0	4	3	2	0	2	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr15:77473641T>A	ENST00000560626.2	-	4	1103	c.628A>T	c.(628-630)Att>Ttt	p.I210F	PEAK1_ENST00000312493.4_Missense_Mutation_p.I210F|PEAK1_ENST00000558305.1_Missense_Mutation_p.I210F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	210					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)										CCACTCAGAATAACATGCTTG	0.443																																																	0													199	183	188					15																	77473641		1888	4115	6003	SO:0001583	missense	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.628A>T	15.37:g.77473641T>A	ENSP00000452796:p.Ile210Phe		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.I210F	ENST00000560626.2	37	c.628	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	T	9.045	0.990654	0.18966	.	.	ENSG00000173517	ENST00000312493	T	0.70282	-0.47	5.69	3.37	0.38596	.	0.520885	0.13192	U	0.406617	T	0.57110	0.2031	N	0.24115	0.695	0.19775	N	0.999959	P	0.34780	0.468	B	0.36030	0.216	T	0.50145	-0.8862	10	0.72032	D	0.01	-2.2957	8.6667	0.34125	0.0:0.383:0.0:0.617	.	210	Q9H792	PEAK1_HUMAN	F	210	ENSP00000309230:I210F	ENSP00000309230:I210F	I	-	1	0	AC087465.1	75260696	0.770000	0.28543	0.626000	0.29213	0.892000	0.51952	1.265000	0.33027	0.442000	0.26555	0.528000	0.53228	ATT	PEAK1	-	NULL	ENSG00000173517		0.443	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	HGNC	protein_coding	OTTHUMT00000419483.3	-	0	43	0	T			77473641	-1	tier1	-	no_errors	ENST00000312493	ensembl	human	known	74_37	missense	20.00	31	8	SNP	0.142	A	A	77473641	T	A	77473641	3	1	127	1	0	0	0	0	1	0	0	0	14256	1406	49	5	4628	5	SGK269	15	77473641	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	2458800	77473641	25057751	179	32900											
CHD9	80205	genome.wustl.edu	37	chr16	53279712	53279712	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatgtacctaacttggtcaAtaccatgatggagctcagga	13	11	9	8	0	2	1	2	1	0	0	2	3	2	3	2	3	4	2	2	3	5	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr16:53279712A>G	ENST00000398510.3	+	14	3491	c.3404A>G	c.(3403-3405)aAt>aGt	p.N1135S	CHD9_ENST00000566029.1_Missense_Mutation_p.N1135S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1135S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1135S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1135					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AACTTGGTCAATACCATGATG	0.313																																																	0													55	54	54					16																	53279712		1829	4083	5912	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3404A>G	16.37:g.53279712A>G	ENSP00000381522:p.Asn1135Ser		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N1135S	ENST00000398510.3	37	c.3404		16	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648319	0.87958	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.75589	-0.95;-0.95	5.95	5.95	0.96441	SNF2-related (1);	0.000000	0.64402	D	0.000010	D	0.84347	0.5452	L	0.58302	1.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.85130	0.997;0.997;0.996;0.994	D	0.85733	0.1332	10	0.87932	D	0	-22.9634	16.4237	0.83790	1.0:0.0:0.0:0.0	.	661;1135;1135;1135	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	S	1135;1135;661	ENSP00000396345:N1135S;ENSP00000381522:N1135S	ENSP00000219084:N661S	N	+	2	0	CHD9	51837213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.279000	0.76181	0.533000	0.62120	AAT	CHD9	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000177200		0.313	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	-	0	114	0	A	NM_025134		53279712	1	tier1	-	no_errors	ENST00000398510	ensembl	human	known	74_37	missense	35.51	69	38	SNP	1.000	G	G	53279712	A	G	53279712	3	3	127	1	0	0	0	0	1	0	0	0	3339	101	4	4	3458	4	CHD9	16	53279712	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09		53279712	37075041	180	32901											
CES1	1066	genome.wustl.edu	37	chr16	55866958	55866958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggccaggataaaggcacGgagccacatcgtggaagggc	12	4	16	9	2	0	0	0	0	0	0	1	3	0	3	2	6	1	1	2	6	3	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr16:55866958G>A	ENST00000361503.4	-	1	140	c.10C>T	c.(10-12)Cgt>Tgt	p.R4C	CES1_ENST00000422046.2_Missense_Mutation_p.R4C|CES1_ENST00000360526.3_Missense_Mutation_p.R4C			P23141	EST1_HUMAN	carboxylesterase 1	4				RAFI -> PALV (in Ref. 3; BAA04650, 8; BAC87749/BAC87751, 9; BAF83312/BAF84898 and 11; AAH12418). {ECO:0000305}.	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)	ATAAAGGCACGGAGCCACATC	0.602																																					NSCLC(162;1801 2756 42904 52896)												0													74	61	65					16																	55866958		2156	4192	6348	SO:0001583	missense	0			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.10C>T	16.37:g.55866958G>A	ENSP00000355193:p.Arg4Cys		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.R4C	ENST00000361503.4	37	c.10	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	8.233	0.805192	0.16467	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.66460	-0.21;-0.21;-0.21	3.81	-0.024	0.13941	Carboxylesterase, type B (1);	2.527660	0.01798	N	0.032705	T	0.40767	0.1130	N	0.03016	-0.435	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	0.27434	-1.0074	10	0.38643	T	0.18	.	3.3834	0.07262	0.5679:0.2054:0.2266:0.0	.	4;4;4	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	C	4	ENSP00000353720:R4C;ENSP00000355193:R4C;ENSP00000390492:R4C	ENSP00000353720:R4C	R	-	1	0	CES1	54424459	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-2.029000	0.01430	0.006000	0.14734	-0.309000	0.09137	CGT	CES1	-	pfam_CarbesteraseB	ENSG00000198848		0.602	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	-	0	258	0	G	NM_001266		55866958	-1	tier1	-	no_errors	ENST00000360526	ensembl	human	known	74_37	missense	16.26	242	47	SNP	0.000	A	A	55866958	G	A	55866958	3	1	127	1	0	0	0	0	1	0	0	0	3276	1116	39	1	1752	1	CES1	16	55866958	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	2587246	55866958	34487795	181	32902											
CNOT1	23019	genome.wustl.edu	37	chr16	58577401	58577401	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcaaacaaatatggtgaTtattaagaataagtggtaac	19	11	7	4	0	1	2	1	1	0	1	1	2	1	2	0	2	2	1	0	2	8	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr16:58577401T>C	ENST00000317147.5	-	31	4767				CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.N1515S|CNOT1_ENST00000245138.4_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						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)		aatatggtgattattaagaat	0.308																																																	0													41	47	45					16																	58577401		1270	2283	3553	SO:0001627	intron_variant	0			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.4434+109A>G	16.37:g.58577401T>C			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.N1515S	ENST00000317147.5	37	c.4544	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	T	10.14	1.269341	0.23221	.	.	ENSG00000125107	ENST00000441024	T	0.44083	0.93	3.62	-7.24	0.01475	.	.	.	.	.	T	0.21718	0.0523	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	8	0.87932	D	0	.	0.5533	0.00666	0.3477:0.318:0.1232:0.2111	.	1515	A5YKK6-4	.	S	1515	ENSP00000413113:N1515S	ENSP00000413113:N1515S	N	-	2	0	CNOT1	57134902	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.292000	0.02772	-1.482000	0.01860	-1.295000	0.01343	AAT	CNOT1	-	NULL	ENSG00000125107		0.308	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	-	0	90	0	T	NM_016284		58577401	-1	tier1	-	no_errors	ENST00000441024	ensembl	human	known	74_37	missense	41.24	57	40	SNP	0.000	C	C	58577401	T	C	58577401	1	2	127	0	1	0	0	0	0	0	0	0	3624	1493	52	4		4	CNOT1	16	58577401	Intron	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	2710443	58577401	31777352	182	32903											
PDPR	55066	genome.wustl.edu	37	chr16	70187417	70187417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgccttctggggtcaggatAtaaataacctcaccacgccc	10	10	8	13	1	3	0	2	0	1	0	3	1	3	1	4	3	2	0	4	3	4	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr16:70187417A>G	ENST00000288050.4	+	18	3133	c.2176A>G	c.(2176-2178)Ata>Gta	p.I726V	PDPR_ENST00000568530.1_Missense_Mutation_p.I726V|PDPR_ENST00000542659.1_Missense_Mutation_p.I71V|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000567046.1_Missense_Mutation_p.I84V|PDPR_ENST00000398122.3_Missense_Mutation_p.I626V	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	726					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)	p.I726V(1)		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)		GGGTCAGGATATAAATAACCT	0.488																																																	1	Substitution - Missense(1)	lung(1)											84	87	86					16																	70187417		1927	4140	6067	SO:0001583	missense	0				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.2176A>G	16.37:g.70187417A>G	ENSP00000288050:p.Ile726Val		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.I726V	ENST00000288050.4	37	c.2176	CCDS45520.1	16	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221573	0.58560	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	T;T;T	0.77750	-1.12;-1.12;-1.12	6.04	-1.32	0.09201	Glycine cleavage T-protein, N-terminal (1);	0.068192	0.64402	D	0.000011	T	0.71804	0.3383	M	0.62154	1.92	0.28016	N	0.934693	B	0.20164	0.042	B	0.32211	0.142	T	0.65598	-0.6129	10	0.66056	D	0.02	.	7.0701	0.25173	0.1492:0.5197:0.0:0.3312	.	726	Q8NCN5	PDPR_HUMAN	V	726;626;71	ENSP00000288050:I726V;ENSP00000381190:I626V;ENSP00000441690:I71V	ENSP00000288050:I726V	I	+	1	0	PDPR	68744918	1.000000	0.71417	0.988000	0.46212	0.971000	0.66376	1.659000	0.37387	-0.280000	0.09154	-0.527000	0.04329	ATA	PDPR	-	pfam_GCV_T_N	ENSG00000090857		0.488	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	-	0	111	0	A	NM_017990		70187417	1	tier1	-	no_errors	ENST00000288050	ensembl	human	known	74_37	missense	17.65	98	21	SNP	0.993	G	G	70187417	A	G	70187417	3	3	127	1	0	0	0	0	1	0	0	0	11728	449	16	4	2238	4	PDPR	16	70187417	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	11610016	70187417	20167336	183	32904											
TP53	7157	genome.wustl.edu	37	chr17	7578179	7578179	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagttgcaaaccagacctCaggcggctcatagggcacca	11	5	10	15	1	2	1	2	0	0	1	2	1	2	1	4	3	2	4	4	3	2	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr17:7578179C>A	ENST00000269305.4	-	6	859	c.670G>T	c.(670-672)Gag>Tag	p.E224*	TP53_ENST00000413465.2_Nonsense_Mutation_p.E224*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E224*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E224*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E224*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E224*	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	224	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (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.?(13)|p.0?(8)|p.E224*(5)|p.E224K(5)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACCAGACCTCAGGCGGCTCA	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"	35	Unknown(13)|Whole gene deletion(8)|Substitution - Nonsense(5)|Substitution - Missense(5)|Deletion - Frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	biliary_tract(5)|endometrium(5)|bone(4)|stomach(3)|urinary_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|large_intestine(1)|oesophagus(1)|breast(1)											82	77	79					17																	7578179		2203	4300	6503	SO:0001587	stop_gained	0	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.670G>T	17.37:g.7578179C>A	ENSP00000269305:p.Glu224*		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E224*	ENST00000269305.4	37	c.670	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.081367	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	3.13	0.36017	.	0.057313	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.9223	12.988	0.58602	0.0:0.555:0.445:0.0	.	.	.	.	X	224;224;224;224;224;224;213;131;92;131	.	ENSP00000269305:E224X	E	-	1	0	TP53	7518904	1.000000	0.71417	0.865000	0.33974	0.992000	0.81027	4.831000	0.62752	1.353000	0.45828	0.563000	0.77884	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	77	0	C	NM_000546		7578179	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	60.61	26	40	SNP	0.990	A	A	7578179	C	A	7578179	4	1	127	1	0	0	0	0	0	1	0	0	16429	835	29	3	624	3	TP53	17	7578179	Nonsense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09		7578179	73617031	184	32905											
GAS7	8522	genome.wustl.edu	37	chr17	9846480	9846480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttccttctgcatttgtttgCccttcagctgtttctggagc	3	19	8	11	0	3	0	1	0	2	0	4	1	4	1	2	1	4	4	2	1	0	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr17:9846480C>T	ENST00000432992.2	-	7	849	c.689G>A	c.(688-690)gGc>gAc	p.G230D	GAS7_ENST00000578655.1_5'Flank|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.G166D|GAS7_ENST00000585266.1_Missense_Mutation_p.G170D|GAS7_ENST00000323816.4_Missense_Mutation_p.G170D|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.G90D|GAS7_ENST00000542249.1_Missense_Mutation_p.G166D|GAS7_ENST00000579158.1_Missense_Mutation_p.G166D	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	230	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CATTTGTTTGCCCTTCAGCTG	0.577			T	MLL	AML*																																			Dom	yes		17	17p	8522	growth arrest-specific 7		L	0													187	166	173					17																	9846480		2203	4300	6503	SO:0001583	missense	0			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.689G>A	17.37:g.9846480C>T	ENSP00000407552:p.Gly230Asp		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom	p.G230D	ENST00000432992.2	37	c.689	CCDS11152.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.133687	0.94517	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.23147	1.92	5.36	5.36	0.76844	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.64402	D	0.000001	T	0.56978	0.2022	M	0.85373	2.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.989;0.995;0.98;0.995	T	0.60627	-0.7226	9	.	.	.	-0.3862	18.2231	0.89907	0.0:1.0:0.0:0.0	.	182;170;90;230	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	D	230;170;169;90;170;44	ENSP00000379421:G170D	.	G	-	2	0	GAS7	9787205	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.095000	0.76952	2.676000	0.91093	0.655000	0.94253	GGC	GAS7	-	pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	ENSG00000007237		0.577	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS7	HGNC	protein_coding	OTTHUMT00000439883.1	-	0	58	0	C	NM_003644, NM_201432, NM_201433		9846480	-1	tier1	-	no_errors	ENST00000432992	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	9846480	C	T	9846480	3	4	127	1	0	0	0	0	1	0	0	0	6275	739	26	3	773	3	GAS7	17	9846480	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	2268301	9846480	71348730	185	32906											
NCOR1	9611	genome.wustl.edu	37	chr17	16024424	16024424	+	Silent	SNP	A	A	T	1	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	tcagtagccgctgcggctgcAgcactggcagctgcagcttc	6	8	13	14	2	1	0	1	0	0	0	2	0	1	0	1	2	7	9	1	2	1	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr17:16024424A>T	ENST00000268712.3	-	16	2051	c.1794T>A	c.(1792-1794)gcT>gcA	p.A598A	NCOR1_ENST00000395848.1_Silent_p.A489A|NCOR1_ENST00000395851.1_Silent_p.A598A|NCOR1_ENST00000583226.1_5'UTR	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	598	Poly-Ala.				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)		CTGCGGCTGCAGCACTGGCAG	0.597																																																	0													49	55	53					17																	16024424		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1794T>A	17.37:g.16024424A>T			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A598	ENST00000268712.3	37	c.1794	CCDS11175.1	17																																																																																			NCOR1	-	NULL	ENSG00000141027		0.597	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	-	0	45	0	A	NM_006311		16024424	-1	tier1	-	no_errors	ENST00000268712	ensembl	human	known	74_37	silent	30.43	16	7	SNP	0.999	T	T	16024424	A	T	16024424	2	4	127	1	0	0	0	0	0	0	0	1	10274	175	7	5		5	NCOR1	17	16024424	Silent	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	6177944	16024424	65170786	186	32907											
FAM83G	644815	genome.wustl.edu	37	chr17	18874831	18874831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggtggccctgccatcGgtcatggggcgggcattttg	3	11	15	12	3	1	0	1	0	0	0	4	0	2	0	3	6	1	1	3	6	0	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr17:18874831G>A	ENST00000388995.6	-	6	2536	c.2313C>T	c.(2311-2313)acC>acT	p.T771T	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Silent_p.T771T|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Silent_p.T771T|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	771					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						CCCTGCCATCGGTCATGGGGC	0.647																																																	0													85	95	92					17																	18874831		1984	4151	6135	SO:0001819	synonymous_variant	0			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.2313C>T	17.37:g.18874831G>A			Q3KQZ4|Q6ZW60	Silent	SNP	pfam_DUF1669	p.T771	ENST00000388995.6	37	c.2313	CCDS42276.1	17																																																																																			FAM83G	-	NULL	ENSG00000188522		0.647	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	-	0	119	0	G			18874831	-1	tier1	-	no_errors	ENST00000345041	ensembl	human	known	74_37	silent	62.50	48	80	SNP	0.135	A	A	18874831	G	A	18874831	2	1	127	1	0	0	0	0	0	0	0	1	5661	1103	39	1		1	FAM83G	17	18874831	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	2850407	18874831	62320379	187	32908											
NOS2	4843	genome.wustl.edu	37	chr17	26091136	26091136	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcctggctgagtgagcaGgggggcagcctcttgtcact	6	8	17	10	0	2	2	1	2	1	0	2	2	2	2	2	5	2	3	2	5	0	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr17:26091136G>T	ENST00000313735.6	-	21	2696	c.2463C>A	c.(2461-2463)ccC>ccA	p.P821P		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	821	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				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)	TGAGTGAGCAGGGGGGCAGCC	0.602																																																	0													18	21	20					17																	26091136		2203	4296	6499	SO:0001819	synonymous_variant	0			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.2463C>A	17.37:g.26091136G>T			A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.P821	ENST00000313735.6	37	c.2463	CCDS11223.1	17																																																																																			NOS2	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk	ENSG00000007171		0.602	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	-	0	69	0	G	NM_000625		26091136	-1	tier1	-	no_errors	ENST00000313735	ensembl	human	known	74_37	silent	63.49	23	40	SNP	1.000	T	T	26091136	G	T	26091136	2	4	127	1	0	0	0	0	0	0	0	1	10582	987	35	3		3	NOS2	17	26091136	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	7216305	26091136	55104074	188	32909											
MED13	9969	genome.wustl.edu	37	chr17	60033165	60033165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ttgagccttttacttagagaCtgcaagtttcgacgactcag	10	13	9	9	2	1	2	1	1	0	1	2	5	1	2	1	0	3	2	1	0	3	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr17:60033165C>A	ENST00000397786.2	-	25	5734	c.5658G>T	c.(5656-5658)caG>caT	p.Q1886H		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1886					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						TACTTAGAGACTGCAAGTTTC	0.388																																																	0													90	90	90					17																	60033165		1885	4112	5997	SO:0001583	missense	0			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.5658G>T	17.37:g.60033165C>A	ENSP00000380888:p.Gln1886His		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.Q1886H	ENST00000397786.2	37	c.5658	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437878	0.62955	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75367	-0.93	5.65	0.0543	0.14310	.	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	L	0.55103	1.725	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.74680	-0.3584	10	0.33940	T	0.23	-5.0503	10.7783	0.46363	0.0:0.682:0.0:0.318	.	1886	Q9UHV7	MED13_HUMAN	H	1886;1885	ENSP00000380888:Q1886H	ENSP00000262436:Q1885H	Q	-	3	2	MED13	57387947	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.914000	0.28624	0.060000	0.16281	0.467000	0.42956	CAG	MED13	-	pfam_Mediator_Med13	ENSG00000108510		0.388	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	-	0	24	0	C	NM_005121		60033165	-1	tier1	-	no_errors	ENST00000397786	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	A	A	60033165	C	A	60033165	3	1	127	1	0	0	0	0	1	0	0	0	9468	564	20	3	890	3	MED13	17	60033165	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	33942029	60033165	21162045	189	32910											
GPS1	2873	genome.wustl.edu	37	chr17	80013949	80013949	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgaccggcaggagctgCagcgcaatgtcatctccagc	8	8	11	14	2	2	1	1	1	1	0	3	2	2	2	3	2	4	4	3	2	1	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr17:80013949C>T	ENST00000306823.6	+	8	942	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	GPS1_ENST00000355130.2_Nonsense_Mutation_p.Q343*|GPS1_ENST00000320548.4_Nonsense_Mutation_p.Q287*|GPS1_ENST00000578552.1_Nonsense_Mutation_p.Q303*|GPS1_ENST00000392358.2_Nonsense_Mutation_p.Q343*			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	307					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)			GCAGGAGCTGCAGCGCAATGT	0.652																																																	0													34	29	30					17																	80013949		2198	4298	6496	SO:0001587	stop_gained	0				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.919C>T	17.37:g.80013949C>T	ENSP00000302873:p.Gln307*		Q8NA10|Q9BWL1	Nonsense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.Q343*	ENST00000306823.6	37	c.1027	CCDS32774.1	17	.	.	.	.	.	.	.	.	.	.	c	40	8.439063	0.98813	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130	.	.	.	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-37.2199	16.7173	0.85400	0.0:1.0:0.0:0.0	.	.	.	.	X	343;293;307;343	.	ENSP00000302873:Q307X	Q	+	1	0	GPS1	77607238	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.123000	0.77176	2.177000	0.69029	0.558000	0.71614	CAG	GPS1	-	pfam_26S_proteasome_reg_su-Rpn7	ENSG00000169727		0.652	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1	-	0	51	0	C	NM_212492		80013949	1	tier1	-	no_errors	ENST00000355130	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T	T	80013949	C	T	80013949	4	4	127	1	0	0	0	0	0	1	0	0	6759	711	25	3	1106	3	GPS1	17	80013949	Nonsense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	19980784	80013949	1181261	190	32911											
WDR45L	56270	genome.wustl.edu	37	chr17	80579621	80579621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacatggcccgtgtgcGtgcccggaaaggccaggagg	7	5	17	12	3	0	0	0	0	0	0	0	2	0	2	3	5	3	2	3	5	1	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr17:80579621G>T	ENST00000392325.4	-	6	676	c.482C>A	c.(481-483)aCg>aAg	p.T161K	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	161								p.T161M(1)									GCCCGTGTGCGTGCCCGGAAA	0.572																																																	1	Substitution - Missense(1)	central_nervous_system(1)											57	48	51					17																	80579621		2203	4300	6503	SO:0001583	missense	0			AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"WD repeat domain containing"	25072	protein-coding gene	gene with protein product		609226	"WDR45-like"	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.482C>A	17.37:g.80579621G>T	ENSP00000376139:p.Thr161Lys		O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.T161K	ENST00000392325.4	37	c.482	CCDS11815.2	17	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162030	0.38217	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.56941	0.43	4.82	2.66	0.31614	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.152191	0.64402	D	0.000012	T	0.26195	0.0639	N	0.04508	-0.205	0.54753	D	0.999986	B	0.13594	0.008	B	0.09377	0.004	T	0.04946	-1.0916	10	0.20519	T	0.43	-10.4067	9.9339	0.41539	0.0771:0.1389:0.784:0.0	.	161	Q5MNZ6	WIPI3_HUMAN	K	161;133	ENSP00000376139:T161K	ENSP00000376139:T161K	T	-	2	0	WDR45L	78172910	1.000000	0.71417	0.966000	0.40874	0.944000	0.59088	6.145000	0.71769	1.162000	0.42619	0.563000	0.77884	ACG	WDR45B	-	superfamily_WD40_repeat_dom	ENSG00000141580		0.572	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR45B	HGNC	protein_coding	OTTHUMT00000316536.1		0	57	0	G	NM_019613		80579621	-1			no_errors	ENST00000392325	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.997	T	T	80579621	G	T	80579621	3	4	127	1	0	0	0	0	1	0	0	0	17347	1145	40	2	572	2	WDR45L	17	80579621	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	565672	80579621	615589	191	32912											
POTEC	388468	genome.wustl.edu	37	chr18	14542998	14542998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttcataaaggagtcgtCgtggtctccagaagtgccca	10	10	10	11	2	3	1	1	0	2	1	6	2	3	2	2	2	1	0	2	2	3	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr18:14542998C>A	ENST00000358970.5	-	1	147	c.148G>T	c.(148-150)Gac>Tac	p.D50Y	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	50										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGGAGTCGTCGTGGTCTCCA	0.592																																																	0													44	48	47					18																	14542998		692	1591	2283	SO:0001583	missense	0			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.148G>T	18.37:g.14542998C>A	ENSP00000351856:p.Asp50Tyr			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D50Y	ENST00000358970.5	37	c.148	CCDS45835.1	18	.	.	.	.	.	.	.	.	.	.	c	9.617	1.132723	0.21041	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.39406	1.08	0.448	0.448	0.16614	.	.	.	.	.	T	0.48295	0.1492	L	0.43152	1.355	0.09310	N	1	D	0.60575	0.988	P	0.61275	0.886	T	0.33420	-0.9869	8	0.87932	D	0	.	.	.	.	.	50	B2RU33	POTEC_HUMAN	Y	50	ENSP00000351856:D50Y	ENSP00000351856:D50Y	D	-	1	0	POTEC	14532998	0.002000	0.14202	0.002000	0.10522	0.034000	0.12701	0.423000	0.21313	0.479000	0.27511	0.186000	0.17326	GAC	POTEC	-	NULL	ENSG00000183206		0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	-	0	243	0	C	XM_496269		14542998	-1	tier1	-	no_errors	ENST00000358970	ensembl	human	known	74_37	missense	6.87	217	16	SNP	0.003	A	A	14542998	C	A	14542998	3	1	127	1	0	0	0	0	1	0	0	0	12301	884	31	2	1524	2	POTEC	18	14542998	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09		14542998	63534250	192	32913											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14850253	14850253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagagaagagaagaaatgtcGatatattaaaagaaaaaatt	24	8	8	1	1	0	4	0	0	0	4	1	7	0	4	0	0	0	0	0	0	11	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr18:14850253G>C	ENST00000358984.4	+	35	3259	c.3079G>C	c.(3079-3081)Gat>Cat	p.D1027H		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1027										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGAAATGTCGATATATTAAA	0.284																																																	0													48	41	43					18																	14850253		691	1575	2266	SO:0001583	missense	0			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.3079G>C	18.37:g.14850253G>C	ENSP00000351875:p.Asp1027His		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1027H	ENST00000358984.4	37	c.3079	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	G	7.340	0.620620	0.14193	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.18810	2.19	1.48	1.48	0.22813	.	.	.	.	.	T	0.39332	0.1074	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.76575	0.895;0.988	T	0.31586	-0.9938	9	0.87932	D	0	.	8.9515	0.35792	0.0:0.0:1.0:0.0	.	1112;1027	Q9BXX2;F8WAG3	AN30B_HUMAN;.	H	1027;421;447	ENSP00000351875:D1027H	ENSP00000277669:D447H	D	+	1	0	ANKRD30B	14840253	0.990000	0.36364	0.089000	0.20774	0.075000	0.17131	3.342000	0.52159	1.139000	0.42245	0.173000	0.16961	GAT	ANKRD30B	-	NULL	ENSG00000180777		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	36	0	G	NM_001145029		14850253	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	missense	60.34	22	35	SNP	0.900	C	C	14850253	G	C	14850253	3	2	127	1	0	0	0	0	1	0	0	0	659	1058	37	5	3217	5	ANKRD30B	18	14850253	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	307255	14850253	63226995	193	32914											
KIAA1468	57614	genome.wustl.edu	37	chr18	59925833	59925833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttaccagcttacgctgCgtggactacagaacttggaa	11	12	9	9	2	0	1	0	0	0	1	0	3	0	3	1	2	6	2	1	2	5	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr18:59925833C>T	ENST00000398130.2	+	15	2358	c.2126C>T	c.(2125-2127)gCg>gTg	p.A709V	KIAA1468_ENST00000256858.6_Missense_Mutation_p.A709V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	709										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GCTTACGCTGCGTGGACTACA	0.378																																																	0													97	93	94					18																	59925833		2203	4300	6503	SO:0001583	missense	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2126C>T	18.37:g.59925833C>T	ENSP00000381198:p.Ala709Val			Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.A709V	ENST00000398130.2	37	c.2126	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397960	0.83120	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.66995	-0.24;-0.24	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.989;0.998;0.999	P;P;D	0.64595	0.772;0.824;0.927	T	0.74469	-0.3655	9	.	.	.	-8.351	20.089	0.97809	0.0:1.0:0.0:0.0	.	709;709;353	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	V	709	ENSP00000381198:A709V;ENSP00000256858:A709V	.	A	+	2	0	KIAA1468	58076813	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.488000	0.66869	2.752000	0.94435	0.557000	0.71058	GCG	KIAA1468	-	superfamily_ARM-type_fold	ENSG00000134444		0.378	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	-	0	61	0	C	NM_020854		59925833	1	tier1	-	no_errors	ENST00000256858	ensembl	human	known	74_37	missense	67.19	21	43	SNP	1.000	T	T	59925833	C	T	59925833	3	4	127	1	0	0	0	0	1	0	0	0	8263	768	27	1	2184	1	KIAA1468	18	59925833	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	45075580	59925833	18151415	194	32915											
CCDC102B	79839	genome.wustl.edu	37	chr18	66504325	66504325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagaaaaatggagtaaaGttcgagctgaaaggaacagt	18	6	14	3	1	0	2	0	1	0	1	1	7	0	5	0	3	2	3	0	3	6	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr18:66504325G>T	ENST00000360242.5	+	2	442	c.325G>T	c.(325-327)Gtt>Ttt	p.V109F	CCDC102B_ENST00000584156.1_Missense_Mutation_p.V109F|CCDC102B_ENST00000358653.5_Missense_Mutation_p.V109F|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.V109F	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	109										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ATGGAGTAAAGTTCGAGCTGA	0.478																																																	0													91	90	91					18																	66504325		1953	4136	6089	SO:0001583	missense	0			AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.325G>T	18.37:g.66504325G>T	ENSP00000353377:p.Val109Phe		Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	NULL	p.V109F	ENST00000360242.5	37	c.325	CCDS11996.2	18	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486740	0.44249	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.50813	0.73;0.73;0.73	5.24	4.35	0.52113	.	0.120536	0.36854	N	0.002366	T	0.35008	0.0917	L	0.29908	0.895	0.42761	D	0.993804	P;P	0.46020	0.871;0.725	B;B	0.38500	0.275;0.204	T	0.23691	-1.0181	10	0.54805	T	0.06	-14.266	12.5647	0.56304	0.0:0.0:0.8335:0.1665	.	109;109	Q68D86-3;Q68D86	.;C102B_HUMAN	F	109	ENSP00000316237:V109F;ENSP00000351479:V109F;ENSP00000353377:V109F	ENSP00000316237:V109F	V	+	1	0	CCDC102B	64655305	1.000000	0.71417	0.912000	0.35992	0.993000	0.82548	6.280000	0.72626	1.180000	0.42898	0.460000	0.39030	GTT	CCDC102B	-	NULL	ENSG00000150636		0.478	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC102B	HGNC	protein_coding	OTTHUMT00000256225.2	-	0	65	0	G	NM_024781		66504325	1	tier1	-	no_errors	ENST00000319445	ensembl	human	known	74_37	missense	67.57	24	50	SNP	1.000	T	T	66504325	G	T	66504325	3	4	127	1	0	0	0	0	1	0	0	0	2744	1029	36	3	327	3	CCDC102B	18	66504325	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	6578492	66504325	11572923	195	32916											
EEF2	1938	genome.wustl.edu	37	chr19	3982015	3982015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccttcggggctggtggctGacttgctgaacttgccgttg	3	13	14	11	2	0	2	0	2	0	0	2	2	1	2	2	4	3	4	2	4	1	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:3982015G>A	ENST00000309311.6	-	6	915	c.827C>T	c.(826-828)tCa>tTa	p.S276L	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'Flank	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	276	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTGGCTGACTTGCTGAA	0.612																																					Colon(165;1804 1908 4071 6587 18799)												0													104	95	98					19																	3982015		2203	4300	6503	SO:0001583	missense	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.827C>T	19.37:g.3982015G>A	ENSP00000307940:p.Ser276Leu		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.S276L	ENST00000309311.6	37	c.827	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988684	0.74589	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.33438	1.41	6.05	6.05	0.98169	Protein synthesis factor, GTP-binding (1);	0.115078	0.64402	D	0.000011	T	0.45115	0.1326	M	0.85630	2.765	0.80722	D	1	B	0.15141	0.012	B	0.18561	0.022	T	0.40757	-0.9546	10	0.62326	D	0.03	-30.8316	19.5816	0.95469	0.0:0.0:1.0:0.0	.	276	P13639	EF2_HUMAN	L	276	ENSP00000307940:S276L	ENSP00000307940:S276L	S	-	2	0	EEF2	3933015	1.000000	0.71417	0.971000	0.41717	0.696000	0.40369	7.823000	0.86660	2.872000	0.98467	0.650000	0.86243	TCA	EEF2	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000167658		0.612	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	-	0	83	0	G	NM_001961		3982015	-1	tier1	-	no_errors	ENST00000309311	ensembl	human	known	74_37	missense	22.78	61	18	SNP	1.000	A	A	3982015	G	A	3982015	3	1	127	1	0	0	0	0	1	0	0	0	4943	1294	45	3	1789	3	EEF2	19	3982015	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09		3982015	55146968	196	32917											
ARHGEF18	23370	genome.wustl.edu	37	chr19	7506809	7506809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctcagatccctacaccGcctcgctgaggagtgagatt	8	10	9	14	2	1	3	1	2	0	2	4	5	3	4	4	1	1	1	4	1	1	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:7506809G>A	ENST00000359920.6	+	3	920	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	CTD-2207O23.3_ENST00000593531.1_Silent_p.P180P|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.A65T	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	223					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)				TCCCTACACCGCCTCGCTGAG	0.612																																																	0													132	137	135					19																	7506809		2203	4300	6503	SO:0001583	missense	0			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.667G>A	19.37:g.7506809G>A	ENSP00000352995:p.Ala223Thr		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A223T	ENST00000359920.6	37	c.667	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399522	0.42512	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.35789	1.32;1.29	5.54	5.54	0.83059	.	0.249459	0.28209	N	0.016187	T	0.37320	0.0999	L	0.56396	1.775	0.58432	D	0.999995	B	0.10296	0.003	B	0.17433	0.018	T	0.09751	-1.0660	10	0.35671	T	0.21	-30.3277	14.9733	0.71251	0.0:0.0:1.0:0.0	.	223	Q6ZSZ5	ARHGI_HUMAN	T	65;223	ENSP00000319200:A65T;ENSP00000352995:A223T	ENSP00000319200:A65T	A	+	1	0	ARHGEF18	7412809	0.974000	0.33945	0.930000	0.37139	0.032000	0.12392	2.406000	0.44557	2.612000	0.88384	0.505000	0.49811	GCC	ARHGEF18	-	NULL	ENSG00000104880		0.612	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1	-	0	39	0	G	NM_015318		7506809	1	tier1	-	no_errors	ENST00000359920	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.998	A	A	7506809	G	A	7506809	3	1	127	1	0	0	0	0	1	0	0	0	901	1087	38	1	677	1	ARHGEF18	19	7506809	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	3524794	7506809	51622174	197	32918											
MYO1F	4542	genome.wustl.edu	37	chr19	8587613	8587613	+	Silent	SNP	C	C	G	0	0	0	1	1	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	ctggctcccagggatgtggaCggagggccccggggaggcct	5	5	19	12	2	0	0	0	0	0	0	1	4	1	4	4	8	0	1	4	8	0	0	rs201007272		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:8587613C>G	ENST00000338257.8	-	26	3222	c.2955G>C	c.(2953-2955)ccG>ccC	p.P985P		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	985				IMSGGGTHRPPRGPPSTSLG -> KFIWPRGHPQASPALRP HPWD (in Ref. 5; CAA67058). {ECO:0000305}.	defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGATGTGGACGGAGGGCCCC	0.692																																																	0													18	20	19					19																	8587613		1895	4106	6001	SO:0001819	synonymous_variant	0			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.2955G>C	19.37:g.8587613C>G			Q8WWN7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.P985	ENST00000338257.8	37	c.2955	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	0.844	-0.740889	0.03088	.	.	ENSG00000142347	ENST00000305795	.	.	.	5.27	-10.4	0.00318	.	0.565717	0.17509	N	0.171720	T	0.45597	0.1350	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60464	-0.7258	6	0.19147	T	0.46	.	12.9493	0.58389	0.0:0.1362:0.0994:0.7644	.	.	.	.	P	1029	.	ENSP00000304899:R1029P	R	-	2	0	MYO1F	8493613	0.000000	0.05858	0.009000	0.14445	0.238000	0.25445	-1.731000	0.01853	-1.526000	0.01760	0.455000	0.32223	CGT	MYO1F	-	NULL	ENSG00000142347		0.692	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	-	0	52	0	C			8587613	-1	tier1	-	no_errors	ENST00000338257	ensembl	human	known	74_37	silent	29.58	50	21	SNP	0.001	G	G	8587613	C	G	8587613	2	3	127	1	0	0	0	0	0	0	0	1	10111	523	19	5		5	MYO1F	19	8587613	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	1080804	8587613	50541370	198	32919											
MUC16	94025	genome.wustl.edu	37	chr19	9045688	9045688	+	Silent	SNP	T	T	C	0	1	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	gccacagtgggactggaaccTgtggtagctaaattagtggc	10	9	14	8	0	0	0	0	0	0	0	0	2	0	2	2	4	2	2	2	4	5	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:9045688T>C	ENST00000397910.4	-	5	36146	c.35943A>G	c.(35941-35943)acA>acG	p.T11981T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11983	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						GACTGGAACCTGTGGTAGCTA	0.498																																																	0													188	188	188					19																	9045688		1987	4161	6148	SO:0001819	synonymous_variant	0			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.35943A>G	19.37:g.9045688T>C			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T11981	ENST00000397910.4	37	c.35943	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	138	0	T	NM_024690		9045688	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	10.08	116	13	SNP	0.080	C	C	9045688	T	C	9045688	2	2	127	1	0	0	0	0	0	0	0	1	10011	1567	55	4		4	MUC16	19	9045688	Silent	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	458075	9045688	50083295	199	32920											
MUC16	94025	genome.wustl.edu	37	chr19	9090317	9090317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggatgtcagagctcccgtGggcagctgtgctggaactct	7	9	14	11	1	2	1	1	0	1	1	3	3	3	3	1	3	4	4	1	3	1	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:9090317G>T	ENST00000397910.4	-	1	1701	c.1498C>A	c.(1498-1500)Cac>Aac	p.H500N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	500	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						GAGCTCCCGTGGGCAGCTGTG	0.542																																																	0													101	98	99					19																	9090317		2076	4213	6289	SO:0001583	missense	0			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.1498C>A	19.37:g.9090317G>T	ENSP00000381008:p.His500Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.H500N	ENST00000397910.4	37	c.1498	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.865	-0.461785	0.04508	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.45	0.317	0.15861	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	P	0.41041	0.736	B	0.28784	0.094	T	0.47156	-0.9139	8	0.87932	D	0	.	5.5227	0.16941	0.0:0.3533:0.6467:0.0	.	500	B5ME49	.	N	500	ENSP00000381008:H500N	ENSP00000381008:H500N	H	-	1	0	MUC16	8951317	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.009000	0.13219	0.159000	0.19401	0.313000	0.20887	CAC	MUC16	-	NULL	ENSG00000181143		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	52	0	G	NM_024690		9090317	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.001	T	T	9090317	G	T	9090317	3	4	127	1	0	0	0	0	1	0	0	0	10011	1348	47	3	42361	3	MUC16	19	9090317	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	44629	9090317	50038666	200	32921											
YIPF2	78992	genome.wustl.edu	37	chr19	11034281	11034281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagggtgaataccagccCggcggctgacaggcccaggg	9	3	16	13	2	0	3	0	2	0	1	0	3	0	3	4	5	2	1	4	5	2	1	rs372686960		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:11034281C>T	ENST00000586748.1	-	8	896	c.724G>A	c.(724-726)Ggg>Agg	p.G242R	YIPF2_ENST00000590329.1_Missense_Mutation_p.G203R|YIPF2_ENST00000253031.2_Missense_Mutation_p.G242R			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	242						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						AATACCAGCCCGGCGGCTGAC	0.682													C|||	1	0.000199681	0	0	5008	,	,		15279	0		0	False		,,,				2504	0.001																0								C	ARG/GLY	0,4406		0,0,2203	28	33	31		724	-0.2	0.2	19		31	2,8594	2.2+/-6.3	0,2,4296	no	missense	YIPF2	NM_024029.3	125	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	242/317	11034281	2,13000	2203	4298	6501	SO:0001583	missense	0			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.724G>A	19.37:g.11034281C>T	ENSP00000466055:p.Gly242Arg			Missense_Mutation	SNP	pfam_Yip1	p.G242R	ENST00000586748.1	37	c.724	CCDS12251.1	19	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397488	0.42512	0.0	2.33E-4	ENSG00000130733	ENST00000253031	T	0.48201	0.82	4.56	-0.191	0.13252	Yip1 domain (1);	0.252598	0.38217	N	0.001778	T	0.37972	0.1023	N	0.22421	0.69	0.35759	D	0.820045	D	0.61080	0.989	P	0.53593	0.73	T	0.45293	-0.9271	10	0.59425	D	0.04	-10.0674	5.5526	0.17099	0.138:0.6193:0.0:0.2427	.	242	Q9BWQ6	YIPF2_HUMAN	R	242	ENSP00000253031:G242R	ENSP00000253031:G242R	G	-	1	0	YIPF2	10895281	0.968000	0.33430	0.234000	0.24042	0.005000	0.04900	2.328000	0.43867	0.159000	0.19401	0.563000	0.77884	GGG	YIPF2	-	pfam_Yip1	ENSG00000130733		0.682	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YIPF2	HGNC	protein_coding	OTTHUMT00000453045.1	-	0	79	0	C	NM_024029		11034281	-1	tier1	-	no_errors	ENST00000253031	ensembl	human	known	74_37	missense	11.11	64	8	SNP	0.849	T	T	11034281	C	T	11034281	3	4	127	1	0	0	0	0	1	0	0	0	17527	652	23	1	234	1	YIPF2	19	11034281	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	1943964	11034281	48094702	201	32922											
ZNF433	163059	genome.wustl.edu	37	chr19	12127157	12127157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaataaatgtttttccGcattcctcacaaacatagag	14	12	7	8	1	1	1	1	0	0	1	3	2	3	2	2	1	1	2	2	1	5	5	rs374806336	byFrequency	TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:12127157G>A	ENST00000344980.6	-	4	695	c.525C>T	c.(523-525)tgC>tgT	p.C175C	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000419886.2_Silent_p.C140C	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						ATGTTTTTCCGCATTCCTCAC	0.378													G|||	2	0.000399361	0	0.0029	5008	,	,		22464	0		0	False		,,,				2504	0																0								G		2,4302		0,2,2150	111	117	115		525	0.1	0.1	19		115	1,8539		0,1,4269	no	coding-synonymous	ZNF433	NM_001080411.1		0,3,6419	AA,AG,GG		0.0117,0.0465,0.0234		175/674	12127157	3,12841	2152	4270	6422	SO:0001819	synonymous_variant	0			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.525C>T	19.37:g.12127157G>A			Q86VX3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C175	ENST00000344980.6	37	c.525	CCDS45983.1	19																																																																																			ZNF433	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197647		0.378	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF433	HGNC	protein_coding	OTTHUMT00000403716.1	-	0	67	0	G	NM_152602		12127157	-1	tier1	-	no_errors	ENST00000344980	ensembl	human	known	74_37	silent	28.12	46	18	SNP	1.000	A	A	12127157	G	A	12127157	2	1	127	1	0	0	0	0	0	0	0	1	17955	1079	38	1		1	ZNF433	19	12127157	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	1092876	12127157	47001826	202	32923											
ZNF563	147837	genome.wustl.edu	37	chr19	12430312	12430312	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctacgagaactgaaggttTttccacattccttacactca	11	14	5	11	1	2	2	1	1	1	1	4	3	4	2	2	1	3	1	2	1	4	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:12430312T>A	ENST00000293725.5	-	4	732	c.527A>T	c.(526-528)aAa>aTa	p.K176I	ZNF563_ENST00000595977.1_Missense_Mutation_p.K176I	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	176					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(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACTGAAGGTTTTTCCACATTC	0.438																																					GBM(39;623 795 5132 29510 31476)												0													217	199	205					19																	12430312		2203	4300	6503	SO:0001583	missense	0			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.527A>T	19.37:g.12430312T>A	ENSP00000293725:p.Lys176Ile		B2R9E7|Q8NAT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K176I	ENST00000293725.5	37	c.527	CCDS12270.1	19	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076367	0.76415	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.28255	1.62	0.814	0.814	0.18756	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61173	0.2326	H	0.95328	3.655	0.35721	D	0.817149	D;D	0.89917	1.0;0.992	D;D	0.91635	0.989;0.999	T	0.69277	-0.5187	9	0.87932	D	0	.	7.1423	0.25562	0.0:0.0:0.0:1.0	.	176;176	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	I	176	ENSP00000293725:K176I	ENSP00000293725:K176I	K	-	2	0	ZNF563	12291312	0.996000	0.38824	0.013000	0.15412	0.784000	0.44337	3.970000	0.56824	0.607000	0.29982	0.260000	0.18958	AAA	ZNF563	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188868		0.438	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	-	0	110	0	T	NM_145276		12430312	-1	tier1	-	no_errors	ENST00000293725	ensembl	human	known	74_37	missense	34.23	73	38	SNP	0.987	A	A	12430312	T	A	12430312	3	1	127	1	0	0	0	0	1	0	0	0	18042	1841	64	5	907	5	ZNF563	19	12430312	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	303155	12430312	46698671	203	32924											
PKN1	5585	genome.wustl.edu	37	chr19	14581013	14581013	+	Missense_Mutation	SNP	A	A	G	1	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	ggaccagcacattctgtgggAccccggagttcctggcccct	6	8	12	15	1	1	0	0	0	1	0	2	3	2	3	6	4	1	2	6	4	0	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:14581013A>G	ENST00000242783.6	+	19	2497	c.2332A>G	c.(2332-2334)Acc>Gcc	p.T778A	PKN1_ENST00000342216.4_Missense_Mutation_p.T784A	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	778	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ATTCTGTGGGACCCCGGAGTT	0.632																																					NSCLC(185;2539 2965 10733 52867)												0													78	87	84					19																	14581013		2202	4299	6501	SO:0001583	missense	0			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2332A>G	19.37:g.14581013A>G	ENSP00000242783:p.Thr778Ala		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.T784A	ENST00000242783.6	37	c.2350	CCDS42513.1	19	.	.	.	.	.	.	.	.	.	.	A	18.21	3.574022	0.65765	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.48201	0.82;0.82	4.06	4.06	0.47325	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	0.000001	T	0.70701	0.3254	M	0.88775	2.98	0.46222	D	0.998938	D;D	0.69078	0.996;0.997	D;D	0.79108	0.986;0.992	T	0.76578	-0.2908	10	0.87932	D	0	-13.4794	11.2607	0.49080	1.0:0.0:0.0:0.0	.	784;778	Q16512-2;Q16512	.;PKN1_HUMAN	A	778;784	ENSP00000242783:T778A;ENSP00000343325:T784A	ENSP00000242783:T778A	T	+	1	0	PKN1	14442013	1.000000	0.71417	0.988000	0.46212	0.410000	0.31052	8.992000	0.93519	1.828000	0.53243	0.402000	0.26972	ACC	PKN1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000123143		0.632	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN1	HGNC	protein_coding	OTTHUMT00000095510.1	-	0	59	0	A	NM_002741, NM_213560		14581013	1	tier1	-	no_errors	ENST00000342216	ensembl	human	known	74_37	missense	39.62	32	21	SNP	1.000	G	G	14581013	A	G	14581013	3	3	127	1	0	0	0	0	1	0	0	0	12018	275	10	4	2449	4	PKN1	19	14581013	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	2150701	14581013	44547970	204	32925											
ZNF100	163227	genome.wustl.edu	37	chr19	21909627	21909627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttagtaagggttgaggatCggttaaaagctttgccacat	11	13	12	5	1	0	1	0	1	0	0	1	2	0	2	1	3	2	5	1	3	4	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:21909627C>T	ENST00000358296.6	-	5	1685	c.1487G>A	c.(1486-1488)cGa>cAa	p.R496Q	ZNF100_ENST00000305570.6_Missense_Mutation_p.R432Q	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GGTTGAGGATCGGTTAAAAGC	0.398																																																	0													64	70	68					19																	21909627		2201	4298	6499	SO:0001583	missense	0			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1487G>A	19.37:g.21909627C>T	ENSP00000351042:p.Arg496Gln		Q7M4M0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R496Q	ENST00000358296.6	37	c.1487	CCDS42538.1	19	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.151095	0.00328	.	.	ENSG00000197020	ENST00000358296	T	0.35973	1.28	0.867	0.867	0.19085	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19005	0.0456	L	0.35542	1.07	0.09310	N	1	B;B	0.18166	0.002;0.026	B;B	0.09377	0.001;0.004	T	0.30909	-0.9962	9	0.06365	T	0.9	.	3.5994	0.08019	0.0:0.4879:0.0:0.5121	.	496;550	Q8IYN0;Q4G131	ZN100_HUMAN;.	Q	496	ENSP00000351042:R496Q	ENSP00000351042:R496Q	R	-	2	0	ZNF100	21701467	0.000000	0.05858	0.212000	0.23672	0.213000	0.24496	-5.615000	0.00109	0.284000	0.22305	0.289000	0.19496	CGA	ZNF100	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197020		0.398	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	HGNC	protein_coding	OTTHUMT00000464087.1	-	0	63	0	C	NM_173531		21909627	-1	tier1	-	no_errors	ENST00000358296	ensembl	human	known	74_37	missense	6.82	82	6	SNP	0.001	T	T	21909627	C	T	21909627	3	4	127	1	0	0	0	0	1	0	0	0	17761	884	31	1	145	1	ZNF100	19	21909627	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	7328614	21909627	37219356	205	32926											
ZNF665	79788	genome.wustl.edu	37	chr19	53669199	53669199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgaagaccttgccacattCatcacatttataatgttttc	12	15	4	10	0	2	2	2	1	0	1	3	2	2	2	2	0	1	1	2	0	3	7			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:53669199C>T	ENST00000600412.1	-	2	464	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	ZNF665_ENST00000396424.3_Missense_Mutation_p.E182K|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCCACATTCATCACATTTA	0.378																																																	0													137	149	145					19																	53669199		2174	4289	6463	SO:0001583	missense	0				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.349G>A	19.37:g.53669199C>T	ENSP00000469154:p.Glu117Lys		A8K5T8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E182K	ENST00000600412.1	37	c.544		19	.	.	.	.	.	.	.	.	.	.	C	7.928	0.740144	0.15642	.	.	ENSG00000197497	ENST00000396424	T	0.01152	5.26	1.87	-3.04	0.05412	.	.	.	.	.	T	0.00998	0.0033	L	0.33792	1.035	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.44559	-0.9320	9	0.42905	T	0.14	.	4.6489	0.12585	0.0:0.54:0.1764:0.2835	.	182	Q9H7R5-2	.	K	182	ENSP00000379702:E182K	ENSP00000379702:E182K	E	-	1	0	ZNF665	58361011	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.748000	0.00190	-0.322000	0.08615	-0.300000	0.09419	GAA	ZNF665	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197497		0.378	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	ZNF665	HGNC	protein_coding	OTTHUMT00000464179.1	-	0	53	0	C	NM_024733		53669199	-1	tier1	-	no_errors	ENST00000396424	ensembl	human	known	74_37	missense	25.71	52	18	SNP	0.000	T	T	53669199	C	T	53669199	3	4	127	1	0	0	0	0	1	0	0	0	18121	835	29	3	1496	3	ZNF665	19	53669199	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	31759572	53669199	5459784	206	32927											
VN1R2	317701	genome.wustl.edu	37	chr19	53761868	53761868	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cactctcttgtctctgcacaCggagagaaacccaccaaacc	12	7	6	16	1	2	1	0	0	2	1	4	3	2	2	3	1	3	1	3	1	2	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:53761868C>T	ENST00000341702.3	+	1	324	c.240C>T	c.(238-240)caC>caT	p.H80H		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	80					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)		tctctgcacacggagagaaac	0.458																																																	0													40	40	40					19																	53761868		2191	4286	6477	SO:0001819	synonymous_variant	0			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.240C>T	19.37:g.53761868C>T			A1L411|Q8TDU4	Silent	SNP	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.H80	ENST00000341702.3	37	c.240	CCDS12862.1	19																																																																																			VN1R2	-	NULL	ENSG00000196131		0.458	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	HGNC	protein_coding	OTTHUMT00000464285.1		0	46	0	C	NM_173856		53761868	1			no_errors	ENST00000341702	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.038	T	T	53761868	C	T	53761868	2	4	127	1	0	0	0	0	0	0	0	1	17228	535	19	1		1	VN1R2	19	53761868	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	92669	53761868	5367115	207	32928											
KIR3DL1	3811	genome.wustl.edu	37	chr19	55329985	55329985	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagggaactacacatgtCggggttcacacccacactcc	11	7	9	14	1	1	0	1	0	0	0	3	1	2	1	2	3	3	2	2	3	2	2	rs200379896	byFrequency	TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:55329985C>A	ENST00000391728.4	+	3	319	c.286C>A	c.(286-288)Cgg>Agg	p.R96R	KIR3DL1_ENST00000538269.1_Silent_p.R96R|KIR3DL1_ENST00000541392.1_Silent_p.R96R|KIR3DL1_ENST00000402254.2_Silent_p.R96R|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000326542.7_Silent_p.R96R	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	96	Ig-like C2-type 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)		CTACACATGTCGGGGTTCACA	0.557																																																	0													60	62	61					19																	55329985		2174	4116	6290	SO:0001819	synonymous_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.286C>A	19.37:g.55329985C>A			O43473|Q14946|Q16541	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.R96	ENST00000391728.4	37	c.286	CCDS42621.1	19																																																																																			KIR3DL1	-	pfam_Immunoglobulin,smart_Ig_sub	ENSG00000167633		0.557	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	-	0	61	0	C	NM_013289		55329985	1	tier1	-	no_errors	ENST00000402254	ensembl	human	known	74_37	silent	21.13	56	15	SNP	0.000	A	A	55329985	C	A	55329985	2	1	127	1	0	0	0	0	0	0	0	1	8347	875	31	2		2	KIR3DL1	19	55329985	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	1568117	55329985	3798998	208	32929											
ISOC2	79763	genome.wustl.edu	37	chr19	55966407	55966407	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagctgcagaatgagcccTtcgctggtggagaggaaggc	11	6	15	9	1	0	3	0	1	0	2	1	5	0	4	1	4	3	3	1	4	3	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr19:55966407T>C	ENST00000425675.2	-	5	546	c.486A>G	c.(484-486)gaA>gaG	p.E162E	ISOC2_ENST00000085068.3_Silent_p.E178E|ISOC2_ENST00000438389.2_Silent_p.E92E			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	162					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)		GAATGAGCCCTTCGCTGGTGG	0.642											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													45	44	44					19																	55966407		2203	4300	6503	SO:0001819	synonymous_variant	0			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.486A>G	19.37:g.55966407T>C		1011	Q6ZN91|Q9H5G0	Silent	SNP	pfam_Isochorismatase-like,superfamily_Isochorismatase-like	p.E178	ENST00000425675.2	37	c.534	CCDS46195.1	19																																																																																			ISOC2	-	pfam_Isochorismatase-like,superfamily_Isochorismatase-like	ENSG00000063241		0.642	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ISOC2	HGNC	protein_coding	OTTHUMT00000453179.1	-	0	152	0	T	NM_024710		55966407	-1	tier1	-	no_errors	ENST00000085068	ensembl	human	known	74_37	silent	40.14	85	57	SNP	0.995	C	C	55966407	T	C	55966407	2	2	127	1	0	0	0	0	0	0	0	1	7890	1606	56	4		4	ISOC2	19	55966407	Silent	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	636422	55966407	3162576	209	32930											
CBFA2T2	9139	genome.wustl.edu	37	chr20	32212784	32212784	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgggaacccaacaagatgCtagagcatcgagaagttcgt	14	7	11	9	3	0	3	0	0	0	3	3	5	0	4	1	1	4	3	1	1	5	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr20:32212784C>G	ENST00000346541.3	+	7	1471	c.934C>G	c.(934-936)Cta>Gta	p.L312V	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L283V|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L322V|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L312V|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.L283V|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L303V	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	312					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						CAACAAGATGCTAGAGCATCG	0.473																																					Esophageal Squamous(174;142 1955 14837 21276 28041)												0													93	79	84					20																	32212784		2203	4300	6503	SO:0001583	missense	0			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.934C>G	20.37:g.32212784C>G	ENSP00000262653:p.Leu312Val		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1	p.L312V	ENST00000346541.3	37	c.934	CCDS13221.1	20	.	.	.	.	.	.	.	.	.	.	C	9.147	1.015324	0.19355	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.94;1.52	5.73	0.186	0.15105	.	0.492494	0.21336	N	0.076220	T	0.14527	0.0351	N	0.08118	0	0.49299	D	0.99977	B;B	0.33171	0.278;0.4	B;B	0.31101	0.084;0.124	T	0.09509	-1.0671	10	0.15499	T	0.54	-5.9758	1.2921	0.02062	0.3155:0.3121:0.2058:0.1666	.	312;303	O43439;F8W6D7	MTG8R_HUMAN;.	V	86;312;303;312;283;322	ENSP00000364428:L312V;ENSP00000345810:L303V;ENSP00000262653:L312V;ENSP00000380902:L283V;ENSP00000352622:L322V	ENSP00000345810:L303V	L	+	1	2	CBFA2T2	31676445	0.110000	0.22057	0.990000	0.47175	0.870000	0.49936	-0.432000	0.06956	-0.172000	0.10779	-0.182000	0.12963	CTA	CBFA2T2	-	prints_MTGR1	ENSG00000078699		0.473	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	CBFA2T2	HGNC	protein_coding	OTTHUMT00000078708.2	-	0	76	0	C	NM_001032999		32212784	1	tier1	-	no_errors	ENST00000346541	ensembl	human	known	74_37	missense	5.26	108	6	SNP	0.692	G	G	32212784	C	G	32212784	3	3	127	1	0	0	0	0	1	0	0	0	2704	796	28	5	994	5	CBFA2T2	20	32212784	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09		32212784	30812736	210	32931											
DIDO1	11083	genome.wustl.edu	37	chr20	61513761	61513761	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatattcggacgtggtgactCaagacctgaaaaacaaaata	17	9	8	7	2	1	3	1	2	0	1	2	4	1	4	1	2	1	0	1	2	8	4			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr20:61513761C>G	ENST00000266070.4	-	16	3872	c.3547G>C	c.(3547-3549)Gag>Cag	p.E1183Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1183Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1183					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)					CGTGGTGACTCAAGACCTGAA	0.393																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													70	74	73					20																	61513761		2203	4298	6501	SO:0001583	missense	0			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.3547G>C	20.37:g.61513761C>G	ENSP00000266070:p.Glu1183Gln		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E1183Q	ENST00000266070.4	37	c.3547	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993003	0.93167	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.12879	2.64;2.64	5.46	5.46	0.80206	.	0.000000	0.43416	D	0.000571	T	0.43277	0.1240	M	0.84433	2.695	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	T	0.45396	-0.9264	10	0.87932	D	0	-36.2071	19.6754	0.95930	0.0:1.0:0.0:0.0	.	1183	Q9BTC0	DIDO1_HUMAN	Q	1183	ENSP00000266070:E1183Q;ENSP00000378752:E1183Q	ENSP00000266070:E1183Q	E	-	1	0	DIDO1	60984206	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.293000	0.78740	2.724000	0.93272	0.462000	0.41574	GAG	DIDO1	-	NULL	ENSG00000101191		0.393	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0	66	0	C	NM_080796		61513761	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	43.42	43	33	SNP	1.000	G	G	61513761	C	G	61513761	3	3	127	1	0	0	0	0	1	0	0	0	4536	835	29	5	3179	5	DIDO1	20	61513761	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	29300977	61513761	1511759	211	32932											
SLC17A9	63910	genome.wustl.edu	37	chr20	61594982	61594982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgctccttcttcatcCtcctctcctggctgcccacc	3	12	5	21	0	3	0	1	0	2	0	7	0	6	0	7	1	3	2	7	1	0	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr20:61594982C>T	ENST00000370351.4	+	7	903	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.L252F	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	258					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CTTCTTCATCCTCCTCTCCTG	0.687																																																	0													54	59	57					20																	61594982		2144	4247	6391	SO:0001583	missense	0			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.772C>T	20.37:g.61594982C>T	ENSP00000359376:p.Leu258Phe		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L258F	ENST00000370351.4	37	c.772	CCDS42901.1	20	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725810	0.48833	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.60171	0.21;0.21	4.86	3.92	0.45320	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.065081	0.64402	D	0.000006	T	0.75019	0.3793	M	0.86651	2.83	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.995	D;D;D	0.70016	0.967;0.957;0.928	T	0.76852	-0.2806	10	0.87932	D	0	.	8.1861	0.31339	0.1552:0.7645:0.0:0.0802	.	278;258;252	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	F	258;252	ENSP00000359376:L258F;ENSP00000359374:L252F	ENSP00000359374:L252F	L	+	1	0	SLC17A9	61065427	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.017000	0.64047	1.042000	0.40150	0.313000	0.20887	CTC	SLC17A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000101194		0.687	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	-	0	39	0	C	NM_022082		61594982	1	tier1	-	no_errors	ENST00000370351	ensembl	human	known	74_37	missense	44.44	20	16	SNP	1.000	T	T	61594982	C	T	61594982	3	4	127	1	0	0	0	0	1	0	0	0	14469	681	24	3	798	3	SLC17A9	20	61594982	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	81221	61594982	1430538	212	32933											
BACH1	571	genome.wustl.edu	37	chr21	30693632	30693632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgagaactcggtttttgccTatgaatcttctgtgcatagc	8	15	10	8	1	2	2	0	2	2	1	3	3	2	2	1	1	4	2	1	1	4	5			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr21:30693632T>C	ENST00000399921.1	+	2	274	c.31T>C	c.(31-33)Tat>Cat	p.Y11H	BACH1_ENST00000286800.3_Missense_Mutation_p.Y11H	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GGTTTTTGCCTATGAATCTTC	0.443																																																	0													122	105	111					21																	30693632		2203	4300	6503	SO:0001583	missense	0			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.31T>C	21.37:g.30693632T>C	ENSP00000382805:p.Tyr11His		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.Y11H	ENST00000399921.1	37	c.31	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529953	0.64860	.	.	ENSG00000156273	ENST00000548219;ENST00000550131;ENST00000547141;ENST00000546469;ENST00000286800;ENST00000399921;ENST00000548467;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.31	5.31	0.75309	BTB/POZ fold (1);	0.084818	0.50627	D	0.000102	T	0.32556	0.0833	L	0.49455	1.56	0.47214	D	0.999352	P	0.47191	0.891	P	0.51453	0.67	T	0.02683	-1.1124	10	0.54805	T	0.06	-27.6458	15.5563	0.76196	0.0:0.0:0.0:1.0	.	11	O14867	BACH1_HUMAN	H	11	ENSP00000286800:Y11H;ENSP00000382805:Y11H;ENSP00000400576:Y11H;ENSP00000408605:Y11H;ENSP00000392202:Y11H	ENSP00000286800:Y11H	Y	+	1	0	BACH1	29615503	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	7.451000	0.80668	2.136000	0.66102	0.377000	0.23210	TAT	BACH1	-	superfamily_BTB/POZ_fold	ENSG00000156273		0.443	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	-	0	38	0	T	NM_206866		30693632	1	tier1	-	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	27.27	24	9	SNP	1.000	C	C	30693632	T	C	30693632	3	2	127	1	0	0	0	0	1	0	0	0	1284	1522	53	4	33	4	BACH1	21	30693632	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09		30693632	17436263	213	32934											
KRTAP10-6	386674	genome.wustl.edu	37	chr21	46011332	46011332	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ggcgggagcacatggggcggCagaggagggaaacacaggag	12	1	21	7	2	0	1	0	0	0	1	0	5	0	5	0	8	2	2	0	8	1	0			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr21:46011332C>A	ENST00000400368.1	-	1	1054	c.1034G>T	c.(1033-1035)tGc>tTc	p.C345F	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	345						keratin filament (GO:0045095)		p.C345Y(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						CATGGGGCGGCAGAGGAGGGA	0.672																																																	1	Substitution - Missense(1)	large_intestine(1)											45	57	53					21																	46011332		2199	4300	6499	SO:0001583	missense	0			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.1034G>T	21.37:g.46011332C>A	ENSP00000383219:p.Cys345Phe			Missense_Mutation	SNP	NULL	p.C345F	ENST00000400368.1	37	c.1034	CCDS42959.1	21	.	.	.	.	.	.	.	.	.	.	c	8.961	0.970503	0.18659	.	.	ENSG00000188155	ENST00000400368	T	0.01159	5.25	2.84	2.84	0.33178	.	.	.	.	.	T	0.05823	0.0152	M	0.84326	2.69	0.30091	N	0.808301	D	0.89917	1.0	D	0.85130	0.997	T	0.03969	-1.0988	9	0.72032	D	0.01	.	5.7875	0.18340	0.0:0.8469:0.0:0.1531	.	345	P60371	KR106_HUMAN	F	345	ENSP00000383219:C345F	ENSP00000383219:C345F	C	-	2	0	KRTAP10-6	44835760	0.891000	0.30450	1.000000	0.80357	0.036000	0.12997	1.173000	0.31920	1.588000	0.49971	0.205000	0.17691	TGC	KRTAP10-6	-	NULL	ENSG00000188155		0.672	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-6	HGNC	protein_coding	OTTHUMT00000128037.1	-	0	75	0	C	NM_198688		46011332	-1	tier1	-	no_errors	ENST00000400368	ensembl	human	known	74_37	missense	43.56	56	44	SNP	1.000	A	A	46011332	C	A	46011332	3	1	127	1	0	0	0	0	1	0	0	0	8540	710	25	3	67	3	KRTAP10-6	21	46011332	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	15317700	46011332	2118563	214	32935											
SLC7A4	6545	genome.wustl.edu	37	chr22	21384088	21384088	+	Missense_Mutation	SNP	A	A	G	1	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	cactggtgagcaggagcagcAggatgtaaccccagtgtggg	10	6	16	9	0	0	1	0	1	0	0	0	3	0	3	2	4	4	4	2	4	1	1			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr22:21384088A>G	ENST00000382932.2	-	3	1602	c.1535T>C	c.(1534-1536)cTg>cCg	p.L512P	SLC7A4_ENST00000403586.1_Missense_Mutation_p.L512P|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	512					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)	CAGGAGCAGCAGGATGTAACC	0.562																																																	0													67	50	56					22																	21384088		2203	4300	6503	SO:0001583	missense	0			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.1535T>C	22.37:g.21384088A>G	ENSP00000372390:p.Leu512Pro		Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.L512P	ENST00000382932.2	37	c.1535	CCDS33608.1	22	.	.	.	.	.	.	.	.	.	.	A	12.95	2.090086	0.36855	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.87650	-2.28;-2.28	5.46	5.46	0.80206	.	0.247588	0.33712	N	0.004627	D	0.91095	0.7197	M	0.69823	2.125	0.80722	D	1	D	0.59357	0.985	P	0.58780	0.845	D	0.91045	0.4874	10	0.46703	T	0.11	.	13.7984	0.63186	1.0:0.0:0.0:0.0	.	512	O43246	CTR4_HUMAN	P	512	ENSP00000384278:L512P;ENSP00000372390:L512P	ENSP00000372390:L512P	L	-	2	0	SLC7A4	19714088	1.000000	0.71417	0.981000	0.43875	0.147000	0.21601	7.086000	0.76885	2.203000	0.70933	0.459000	0.35465	CTG	SLC7A4	-	pirsf_AA/rel_permease1	ENSG00000099960		0.562	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A4	HGNC	protein_coding	OTTHUMT00000320467.1	-	0	78	0	A	NM_004173		21384088	-1	tier1	-	no_errors	ENST00000382932	ensembl	human	known	74_37	missense	20.97	49	13	SNP	0.998	G	G	21384088	A	G	21384088	3	3	127	1	0	0	0	0	1	0	0	0	14744	188	7	4	384	4	SLC7A4	22	21384088	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09		21384088	29920478	215	32936											
PDXP	57026	genome.wustl.edu	37	chr22	38061677	38061677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacttcagcatcgacccCgcacgcacgcttatggtggg	9	7	12	13	4	1	1	1	0	0	1	2	3	1	1	2	2	2	4	2	2	2	2	rs35046948		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr22:38061677C>T	ENST00000215904.6	+	2	746	c.690C>T	c.(688-690)ccC>ccT	p.P230P	SH3BP1_ENST00000599616.1_Silent_p.P539P|PDXP_ENST00000403251.1_Silent_p.P13P	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	230					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)					GCATCGACCCCGCACGCACGC	0.652																																																	0													132	115	121					22																	38061677		2203	4300	6503	SO:0001819	synonymous_variant	0			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.690C>T	22.37:g.38061677C>T			Q9UGY2	Silent	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,superfamily_HAD-like_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.P539	ENST00000215904.6	37	c.1617	CCDS13953.1	22																																																																																			SH3BP1	-	superfamily_HAD-like_dom	ENSG00000100092		0.652	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000104105.2	-	0	74	0	C	NM_020315		38061677	1	tier1	-	no_errors	ENST00000599616	ensembl	human	known	74_37	silent	44.26	34	27	SNP	0.018	T	T	38061677	C	T	38061677	2	4	127	1	0	0	0	0	0	0	0	1	11737	639	23	1		1	PDXP	22	38061677	Silent	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09	16677589	38061677	13242889	216	32937											
TCF20	6942	genome.wustl.edu	37	chr22	42607581	42607581	+	Missense_Mutation	SNP	T	T	A	0	1	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	aggggttttgagaagaatgaTcctcctggcctggaagtctc	9	11	13	8	0	1	3	0	2	1	2	4	5	3	4	3	4	0	1	3	4	3	2			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr22:42607581T>A	ENST00000359486.3	-	1	3867	c.3731A>T	c.(3730-3732)gAt>gTt	p.D1244V	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.D1244V	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1244					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						AGAAGAATGATCCTCCTGGCC	0.483																																																	0													121	111	115					22																	42607581		2203	4300	6503	SO:0001583	missense	0			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.3731A>T	22.37:g.42607581T>A	ENSP00000352463:p.Asp1244Val		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.D1244V	ENST00000359486.3	37	c.3731	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460671	0.43736	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.60672	0.17;0.17	5.52	5.52	0.82312	.	0.074009	0.56097	D	0.000032	T	0.66694	0.2815	L	0.36672	1.1	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.66351	0.943;0.879	T	0.69367	-0.5164	10	0.66056	D	0.02	-21.3001	15.8108	0.78561	0.0:0.0:0.0:1.0	.	1244;1244	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	V	1244	ENSP00000352463:D1244V;ENSP00000335561:D1244V	ENSP00000335561:D1244V	D	-	2	0	TCF20	40937525	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.456000	0.53000	2.320000	0.78422	0.528000	0.53228	GAT	TCF20	-	NULL	ENSG00000100207		0.483	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	-	0	52	0	T	NM_181492		42607581	-1	tier1	-	no_errors	ENST00000359486	ensembl	human	known	74_37	missense	48.94	24	23	SNP	1.000	A	A	42607581	T	A	42607581	3	1	127	1	0	0	0	0	1	0	0	0	15737	1435	50	5	2189	5	TCF20	22	42607581	Missense_Mutation	SNP	T	TCGA-LN-A7HY-01A-12D-A351-09	4545904	42607581	8696985	217	32938											
RRP7A	27341	genome.wustl.edu	37	chr22	42910199	42910199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctccctctccagcacccGcaagctggctgcctcagtcc	5	9	7	20	1	3	0	1	0	2	0	7	0	5	0	5	1	3	4	5	1	1	0	rs146958654	byFrequency	TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr22:42910199G>A	ENST00000323013.6	-	6	685	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	224							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						TCCAGCACCCGCAAGCTGGCT	0.677																																																	0													31	24	27					22																	42910199		2203	4300	6503	SO:0001583	missense	0			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.670C>T	22.37:g.42910199G>A	ENSP00000321449:p.Arg224Trp		A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Missense_Mutation	SNP	NULL	p.R224W	ENST00000323013.6	37	c.670	CCDS14036.1	22	.	.	.	.	.	.	.	.	.	.	.	14.87	2.665709	0.47677	.	.	ENSG00000189306	ENST00000323013	T	0.25579	1.79	3.66	3.66	0.41972	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.052803	0.85682	D	0.000000	T	0.55162	0.1903	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.983	T	0.66500	-0.5908	10	0.87932	D	0	-30.8823	15.7164	0.77672	0.0:0.0:1.0:0.0	.	224;48	Q9Y3A4;Q9NSQ0	RRP7A_HUMAN;RRP7B_HUMAN	W	224	ENSP00000321449:R224W	ENSP00000321449:R224W	R	-	1	2	RRP7A	41240143	1.000000	0.71417	0.996000	0.52242	0.095000	0.18619	5.665000	0.68052	1.747000	0.51819	0.205000	0.17691	CGG	RRP7A	-	NULL	ENSG00000189306		0.677	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP7A	HGNC	protein_coding	OTTHUMT00000320451.1	-	0	56	0	G	NM_015703		42910199	-1	tier1	rs146958654	no_errors	ENST00000323013	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	A	A	42910199	G	A	42910199	3	1	127	1	0	0	0	0	1	0	0	0	13734	1086	38	1	180	1	RRP7A	22	42910199	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	302618	42910199	8394367	218	32939											
FAM19A5	25817	genome.wustl.edu	37	chr22	49103579	49103579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatgcttccgtgtctggagGgggaaggctgcgacttgtta	7	11	15	8	2	1	0	0	0	1	0	2	3	2	2	1	4	2	3	1	4	2	3	rs201684030		TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chr22:49103579G>T	ENST00000402357.1	+	3	446	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W	FAM19A5_ENST00000358295.5_Missense_Mutation_p.G98W|FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000406880.1_Missense_Mutation_p.G26W	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	105						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GTGTCTGGAGGGGGAAGGCTG	0.567																																																	0													84	91	88					22																	49103579		2125	4238	6363	SO:0001583	missense	0			AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.313G>T	22.37:g.49103579G>T	ENSP00000383933:p.Gly105Trp		A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	pfam_Chemokine-like_FAM19A2	p.G98W	ENST00000402357.1	37	c.292	CCDS46728.1	22	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236003	0.79800	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295;ENST00000406880	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	T	0.74473	0.3721	L	0.55990	1.75	0.42793	D	0.993909	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.975	T	0.78147	-0.2317	8	0.87932	D	0	.	14.9931	0.71406	0.0:0.0:1.0:0.0	.	98;105	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	W	105;105;98;26	.	ENSP00000336812:G105W	G	+	1	0	FAM19A5	47489585	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.369000	0.90118	2.186000	0.69663	0.558000	0.71614	GGG	FAM19A5	-	pfam_Chemokine-like_FAM19A2	ENSG00000219438		0.567	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	FAM19A5	HGNC	protein_coding	OTTHUMT00000317504.1		0	67	0	G	NM_015381		49103579	1			no_errors	ENST00000358295	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	49103579	G	T	49103579	3	4	127	1	0	0	0	0	1	0	0	0	5554	1232	43	3	418	3	FAM19A5	22	49103579	Missense_Mutation	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	6193380	49103579	2200987	219	32940											
P2RY10	27334	genome.wustl.edu	37	chrX	78216849	78216849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaccatcattagcagttgtCccgttgtccgaatcgcactg	10	11	8	12	3	1	0	1	0	0	0	4	1	3	0	3	0	2	4	3	0	3	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chrX:78216849C>T	ENST00000171757.2	+	4	1112	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S	P2RY10_ENST00000544091.1_Missense_Mutation_p.P278S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TAGCAGTTGTCCCGTTGTCCG	0.418																																																	0													231	212	218					X																	78216849		2203	4300	6503	SO:0001583	missense	0			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.832C>T	X.37:g.78216849C>T	ENSP00000171757:p.Pro278Ser		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P278S	ENST00000171757.2	37	c.832	CCDS14442.1	X	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.940467	0.00052	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.41758	0.99;0.99	4.99	-1.48	0.08745	GPCR, rhodopsin-like superfamily (1);	1.292910	0.05032	N	0.474769	T	0.22166	0.0534	N	0.12663	0.25	0.09310	N	0.999998	B	0.02656	0.0	B	0.09377	0.004	T	0.21793	-1.0235	10	0.08599	T	0.76	.	8.2375	0.31636	0.0:0.2166:0.1288:0.6545	.	278	O00398	P2Y10_HUMAN	S	278	ENSP00000443138:P278S;ENSP00000171757:P278S	ENSP00000171757:P278S	P	+	1	0	P2RY10	78103505	0.000000	0.05858	0.128000	0.21923	0.167000	0.22549	-1.513000	0.02256	-0.790000	0.04492	-0.195000	0.12781	CCC	P2RY10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000078589		0.418	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY10	HGNC	protein_coding	OTTHUMT00000057323.1	-	0	9	0	C			78216849	1	tier1	-	no_errors	ENST00000171757	ensembl	human	known	74_37	missense	72.73	6	16	SNP	0.009	T	T	78216849	C	T	78216849	3	4	127	1	0	0	0	0	1	0	0	0	11386	855	30	3	834	3	P2RY10	23	78216849	Missense_Mutation	SNP	C	TCGA-LN-A7HY-01A-12D-A351-09		78216849	77053711	220	32941											
TRPC5	7224	genome.wustl.edu	37	chrX	111155531	111155531	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcttacctctttctggtgGtatttgattgccaccttcaa	7	16	7	11	0	3	1	1	1	2	0	3	1	3	1	3	2	3	2	3	2	3	6			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chrX:111155531G>A	ENST00000262839.2	-	3	1806	c.888C>T	c.(886-888)taC>taT	p.Y296Y		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	296					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTTCTGGTGGTATTTGATTG	0.478																																																	0													166	138	147					X																	111155531		2203	4300	6503	SO:0001819	synonymous_variant	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.888C>T	X.37:g.111155531G>A			B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.Y296	ENST00000262839.2	37	c.888	CCDS14561.1	X																																																																																			TRPC5	-	tigrfam_TRP_channel	ENSG00000072315		0.478	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	-	0	22	0	G	NM_012471		111155531	-1	tier1	-	no_errors	ENST00000262839	ensembl	human	known	74_37	silent	86.36	3	19	SNP	1.000	A	A	111155531	G	A	111155531	2	1	127	1	0	0	0	0	0	0	0	1	16630	1256	44	3		3	TRPC5	23	111155531	Silent	SNP	G	TCGA-LN-A7HY-01A-12D-A351-09	32938682	111155531	44115029	221	32942											
PLXNA3	55558	genome.wustl.edu	37	chrX	153697205	153697205	+	Missense_Mutation	SNP	A	A	T	1	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	tcttcctgctttactgtgccAtcaagcagcagatggagaag	10	11	10	10	0	2	2	1	0	1	2	3	3	3	2	2	1	5	3	2	1	3	3			TCGA-LN-A7HY-01A-12D-A351-09	TCGA-LN-A7HY-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee35a606-caef-43b3-b7cd-bec8956caa5b	b0fc6d5a-b49d-4fd3-991c-0f18e31c3420	g.chrX:153697205A>T	ENST00000369682.3	+	25	4502	c.4327A>T	c.(4327-4329)Atc>Ttc	p.I1443F		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1443					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTACTGTGCCATCAAGCAGCA	0.607																																																	0													107	84	92					X																	153697205		2203	4300	6503	SO:0001583	missense	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4327A>T	X.37:g.153697205A>T	ENSP00000358696:p.Ile1443Phe		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.I1443F	ENST00000369682.3	37	c.4327	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163901	0.78226	.	.	ENSG00000130827	ENST00000369682	T	0.17054	2.3	5.51	5.51	0.81932	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	M	0.91920	3.255	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.61471	-0.7056	10	0.87932	D	0	.	13.5074	0.61491	1.0:0.0:0.0:0.0	.	1443	P51805	PLXA3_HUMAN	F	1443	ENSP00000358696:I1443F	ENSP00000358696:I1443F	I	+	1	0	PLXNA3	153350399	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.332000	0.96446	1.832000	0.53329	0.486000	0.48141	ATC	PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000130827		0.607	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	-	0	33	0	A	NM_017514		153697205	1	tier1	-	no_errors	ENST00000369682	ensembl	human	known	74_37	missense	69.57	14	32	SNP	1.000	T	T	153697205	A	T	153697205	3	4	127	1	0	0	0	0	1	0	0	0	12160	217	8	5	4421	5	PLXNA3	23	153697205	Missense_Mutation	SNP	A	TCGA-LN-A7HY-01A-12D-A351-09	42541674	153697205	1573355	222	32943											
ASAP3	55616	genome.wustl.edu	37	chr1	23769086	23769086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaccctggcccgatcgcGctccttctccagcttggccc	3	10	9	19	3	2	0	1	0	1	0	5	1	3	0	5	2	1	2	5	2	0	2	rs372166776		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:23769086G>A	ENST00000336689.3	-	6	537	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	ASAP3_ENST00000437606.2_Missense_Mutation_p.R156C	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	165					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R165C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GCCCGATCGCGCTCCTTCTCC	0.597																																																	1	Substitution - Missense(1)	endometrium(1)						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	68	62	64		466,493	1.9	1	1		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ASAP3	NM_001143778.1,NM_017707.3	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	156/895,165/904	23769086	1,13005	2203	4300	6503	SO:0001583	missense	0			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.493C>T	1.37:g.23769086G>A	ENSP00000338769:p.Arg165Cys		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R165C	ENST00000336689.3	37	c.493	CCDS235.1	1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218549	0.58560	0.0	1.16E-4	ENSG00000088280	ENST00000336689;ENST00000437606;ENST00000374579	T;T	0.05319	3.54;3.46	4.14	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	L	0.56769	1.78	0.44067	D	0.99681	D;D;D	0.76494	0.999;0.997;0.999	P;P;P	0.59703	0.862;0.772;0.732	T	0.00478	-1.1715	10	0.87932	D	0	.	10.5605	0.45142	0.0:0.0:0.4054:0.5946	.	156;34;165	Q8TDY4-3;B4DRP2;Q8TDY4	.;.;ASAP3_HUMAN	C	165;156;165	ENSP00000338769:R165C;ENSP00000408826:R156C	ENSP00000338769:R165C	R	-	1	0	ASAP3	23641673	1.000000	0.71417	0.997000	0.53966	0.685000	0.39939	3.562000	0.53777	0.327000	0.23409	0.306000	0.20318	CGC	ASAP3	-	NULL	ENSG00000088280		0.597	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	HGNC	protein_coding	OTTHUMT00000008916.2		0	39	0	G	NM_017707		23769086	-1			no_errors	ENST00000336689	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.999	A	A	23769086	G	A	23769086	3	1	128	1	0	0	0	0	1	0	0	0	1013	1087	38	1	2298	1	ASAP3	1	23769086	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09		23769086	225481535	1	32944											
SCP2	6342	genome.wustl.edu	37	chr1	53516286	53516286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcttcacaggccttCtttcaaggcaaattgaaaat	11	15	5	10	0	5	1	2	1	3	0	5	1	5	1	1	2	0	1	1	2	4	6			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:53516286C>A	ENST00000528311.1	+	15	1607	c.1311C>A	c.(1309-1311)ttC>ttA	p.F437L	SCP2_ENST00000407246.2_Missense_Mutation_p.F494L|SCP2_ENST00000371509.4_Missense_Mutation_p.F474L|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000371514.3_Missense_Mutation_p.F518L|SCP2_ENST00000435345.2_Missense_Mutation_p.F114L|SCP2_ENST00000430330.2_Missense_Mutation_p.F111L|SCP2_ENST00000408941.3_3'UTR	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					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)	p.F518L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CACAGGCCTTCTTTCAAGGCA	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)											109	108	108					1																	53516286		2203	4300	6503	SO:0001583	missense	0			M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1311C>A	1.37:g.53516286C>A	ENSP00000434132:p.Phe437Leu		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom	p.F518L	ENST00000528311.1	37	c.1554	CCDS53319.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971734	0.74246	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000435345	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.76	4.85	0.62838	SCP2 sterol-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.63880	0.993;0.988;0.988;0.993	D;D;D;D	0.67548	0.952;0.952;0.945;0.952	T	0.60367	-0.7277	10	0.87932	D	0	-9.5537	13.8087	0.63250	0.0:0.9252:0.0:0.0748	.	494;474;111;518	C9JC79;A6NM69;E1B6W5;P22307	.;.;.;NLTP_HUMAN	L	518;437;474;494;111;114	ENSP00000360569:F518L;ENSP00000434132:F437L;ENSP00000360564:F474L;ENSP00000384569:F494L;ENSP00000406636:F111L;ENSP00000396413:F114L	ENSP00000360564:F474L	F	+	3	2	SCP2	53288874	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.036000	0.30228	1.567000	0.49668	0.650000	0.86243	TTC	SCP2	-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	ENSG00000116171		0.383	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	SCP2	HGNC	protein_coding	OTTHUMT00000387558.1		0	42	0	C	NM_002979		53516286	1			no_errors	ENST00000371514	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	53516286	C	A	53516286	3	1	128	1	0	0	0	0	1	0	0	0	13979	912	32	3	1640	3	SCP2	1	53516286	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	29747200	53516286	195734335	2	32945											
SGIP1	84251	genome.wustl.edu	37	chr1	67109265	67109267	+	In_Frame_Del	DEL	GAA	GAA	-																															tttattcttcaagtgaatcgGaagaagaagaagaatcacat																										TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:67109265_67109267delGAA	ENST00000371037.4	+	7	399_401	c.322_324delGAA	c.(322-324)gaadel	p.E112del	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_In_Frame_Del_p.E116del|SGIP1_ENST00000371039.1_In_Frame_Del_p.E88del|SGIP1_ENST00000371035.3_In_Frame_Del_p.E69del|SGIP1_ENST00000371036.3_In_Frame_Del_p.E87del	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	112	Poly-Glu.		E -> Q (in dbSNP:rs17490057).		endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGTGAATCGGAAGAAGAAGAAG	0.345																																																	0										3,4263		0,3,2130						-10.6	0.2			81	12,8242		5,2,4120	no	coding	SGIP1	NM_032291.2		5,5,6250	A1A1,A1R,RR		0.1454,0.0703,0.1198				15,12505				SO:0001651	inframe_deletion	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.322_324delGAA	1.37:g.67109274_67109276delGAA	ENSP00000360076:p.Glu112del		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	In_Frame_Del	DEL	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.E115in_frame_del	ENST00000371037.4	37	c.334_336	CCDS30744.1	1																																																																																			SGIP1	-	NULL	ENSG00000118473		0.345	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4		0	21	0	GAA	NM_032291		67109267	1	tier1		no_errors	ENST00000237247	ensembl	human	known	74_37	in_frame_del	62.07	11	18	DEL	1.000:1.000:1.000	-	-	67109267	GAA	-	67109265	7	5	128	1	0	1	0	1	0	0	0	0	14251	1175	41	0	348	0	SGIP1	1	67109265	In_Frame_Del	DEL	GAA	TCGA-LN-A7HZ-01A-31D-A351-09	13592979	67109265	182141356	3	32946											
CCDC18	343099	genome.wustl.edu	37	chr1	93722013	93722013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagaattggcagaggctcGtcatcagcaagtccaagcac	13	7	10	11	1	2	2	2	0	0	2	4	2	3	2	1	2	3	4	1	2	4	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:93722013G>A	ENST00000343253.7	+	25	3963	c.3461G>A	c.(3460-3462)cGt>cAt	p.R1154H	CCDC18_ENST00000557479.1_Missense_Mutation_p.R1273H|CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.R1155H			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1154										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)		GCAGAGGCTCGTCATCAGCAA	0.453																																																	0													103	103	103					1																	93722013		1919	4110	6029	SO:0001583	missense	0					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.3461G>A	1.37:g.93722013G>A	ENSP00000343377:p.Arg1154His		Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.R1273H	ENST00000343253.7	37	c.3818		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.90|12.90	2.075397|2.075397	0.36662|0.36662	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479|ENST00000370276	.|.	.|.	.|.	5.31|5.31	2.32|2.32	0.28847|0.28847	.|.	0.340340|.	0.31673|.	N|.	0.007250|.	T|T	0.42131|0.42131	0.1189|0.1189	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B;B|.	0.26902|.	0.035;0.163|.	B;B|.	0.20384|.	0.016;0.029|.	T|T	0.26677|0.26677	-1.0096|-1.0096	9|5	0.45353|.	T|.	0.12|.	.|.	9.127|9.127	0.36821|0.36821	0.2232:0.0:0.7768:0.0|0.2232:0.0:0.7768:0.0	.|.	73;1273|.	Q5T9S4;G3V388|.	.;.|.	H|I	1154;1155;1273|1208	.|.	ENSP00000343377:R1154H|.	R|V	+|+	2|1	0|0	CCDC18|CCDC18	93494601|93494601	0.768000|0.768000	0.28519|0.28519	0.975000|0.975000	0.42487|0.42487	0.708000|0.708000	0.40852|0.40852	0.210000|0.210000	0.17455|0.17455	0.204000|0.204000	0.20548|0.20548	-0.302000|-0.302000	0.09304|0.09304	CGT|GTC	CCDC18	-	NULL	ENSG00000122483		0.453	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	-	0	50	0	G	NM_206886		93722013	1	tier1	-	no_errors	ENST00000557479	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.962	A	A	93722013	G	A	93722013	3	1	128	1	0	0	0	0	1	0	0	0	2801	1145	40	1	3916	1	CCDC18	1	93722013	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	26612748	93722013	155528608	4	32947											
MAN1A2	10905	genome.wustl.edu	37	chr1	117963270	117963270	+	Splice_Site	SNP	A	A	G	1	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	atattacctatcaggagaggAggtgagcaaaatcaagcaat	17	8	10	6	0	2	2	2	1	0	1	2	4	2	3	1	3	3	2	1	3	7	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:117963270A>G	ENST00000356554.3	+	5	1589	c.854A>G	c.(853-855)gAg>gGg	p.E285G		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	285					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TCAGGAGAGGAGGTGAGCAAA	0.358																																					Ovarian(33;199 881 8228 13687 31538)												0													115	103	107					1																	117963270		2203	4300	6503	SO:0001630	splice_region_variant	0			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.855+1A>G	1.37:g.117963270A>G			Q9H510	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.E285G	ENST00000356554.3	37	c.854	CCDS895.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.36|19.36	3.812468|3.812468	0.70912|0.70912	.|.	.|.	ENSG00000198162|ENSG00000198162	ENST00000356554;ENST00000369450|ENST00000449370	T|.	0.71579|.	-0.58|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45856|0.45856	0.1363|0.1363	L|L	0.41824|0.41824	1.3|1.3	0.80722|0.80722	D|D	1|1	D;B|.	0.64830|.	0.994;0.429|.	P;B|.	0.55222|.	0.771;0.168|.	T|T	0.45731|0.45731	-0.9241|-0.9241	10|5	0.52906|.	T|.	0.07|.	-16.2493|-16.2493	12.4926|12.4926	0.55909|0.55909	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	49;285|.	A6NLR2;O60476|.	.;MA1A2_HUMAN|.	G|G	285;49|18	ENSP00000348959:E285G|.	ENSP00000348959:E285G|.	E|R	+|+	2|1	0|2	MAN1A2|MAN1A2	117764793|117764793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.625000|0.625000	0.37756|0.37756	8.472000|8.472000	0.90407|0.90407	2.206000|2.206000	0.71126|0.71126	0.533000|0.533000	0.62120|0.62120	GAG|AGA	MAN1A2	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000198162		0.358	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A2	HGNC	protein_coding	OTTHUMT00000033593.1	-	0	76	0	A	NM_006699	Missense_Mutation	117963270	1	tier1	-	no_errors	ENST00000356554	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	G	G	117963270	A	G	117963270	5	3	128	1	0	0	0	0	0	0	1	0	9249	318	11	4	872	4	MAN1A2	1	117963270	Splice_Site	SNP	A	TCGA-LN-A7HZ-01A-31D-A351-09	24241257	117963270	131287351	5	32948											
TBX15	6913	genome.wustl.edu	37	chr1	119427370	119427370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttaaaccatgtgcacGgacatctgggaggaggagcc	10	7	14	10	1	1	0	0	0	1	0	1	4	1	4	3	5	3	1	3	5	2	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:119427370G>A	ENST00000369429.3	-	8	1803	c.1794C>T	c.(1792-1794)tcC>tcT	p.S598S	TBX15_ENST00000207157.3_Silent_p.S492S			Q96SF7	TBX15_HUMAN	T-box 15	598					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S492S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CCATGTGCACGGACATCTGGG	0.547																																																	1	Substitution - coding silent(1)	lung(1)											75	71	72					1																	119427370		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1794C>T	1.37:g.119427370G>A			Q08E76|Q5JT54|Q5T9S7	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S492	ENST00000369429.3	37	c.1476		1																																																																																			TBX15	-	NULL	ENSG00000092607		0.547	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	TBX15	HGNC	protein_coding	OTTHUMT00000034351.1	-	0	68	0	G	NM_152380		119427370	-1	tier1	-	no_errors	ENST00000207157	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.002	A	A	119427370	G	A	119427370	2	1	128	1	0	0	0	0	0	0	0	1	15699	1103	39	1		1	TBX15	1	119427370	Silent	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	1464100	119427370	129823251	6	32949											
FLG	2312	genome.wustl.edu	37	chr1	152276849	152276849	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	agtggaagcttcatggtgatGcgaccatgagtgcctggagc	9	9	15	8	1	1	2	1	2	0	0	1	5	1	4	2	3	4	1	2	3	1	1			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:152276849G>A	ENST00000368799.1	-	3	10548	c.10513C>T	c.(10513-10515)Cat>Tat	p.H3505Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3505	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)			TCATGGTGATGCGACCATGAG	0.577									Ichthyosis																																								0													245	237	240					1																	152276849		2203	4297	6500	SO:0001583	missense	0	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.10513C>T	1.37:g.152276849G>A	ENSP00000357789:p.His3505Tyr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.H3505Y	ENST00000368799.1	37	c.10513	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	4.868	0.161288	0.09287	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.85	0.633	0.17712	.	.	.	.	.	T	0.01558	0.0050	L	0.40543	1.245	0.09310	N	1	D	0.61697	0.99	D	0.64877	0.93	T	0.50972	-0.8764	9	0.59425	D	0.04	.	3.5837	0.07963	0.1596:0.2651:0.5754:0.0	.	3505	P20930	FILA_HUMAN	Y	3505	ENSP00000357789:H3505Y	ENSP00000357789:H3505Y	H	-	1	0	FLG	150543473	.	.	0.000000	0.03702	0.008000	0.06430	.	.	0.528000	0.28580	0.398000	0.26397	CAT	FLG	-	pfam_Filaggrin	ENSG00000143631		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	104	0	G	NM_002016		152276849	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	38.41	93	58	SNP	0.000	A	A	152276849	G	A	152276849	3	1	128	1	0	0	0	0	1	0	0	0	5944	1319	46	3	1676	3	FLG	1	152276849	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	32849479	152276849	96973772	7	32950											
F5	2153	genome.wustl.edu	37	chr1	169513654	169513654	+	Missense_Mutation	SNP	T	T	G	0	1	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	gtggatggtcaaaatttcatTctgggtccccacactacaga	11	11	9	10	0	3	1	2	0	1	1	4	2	4	2	2	3	1	0	2	3	3	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:169513654T>G	ENST00000367797.3	-	12	2056	c.1855A>C	c.(1855-1857)Aat>Cat	p.N619H	F5_ENST00000367796.3_Missense_Mutation_p.N624H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	619	F5/8 type A 2.|Plastocyanin-like 4.				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)	AAAATTTCATTCTGGGTCCCC	0.478																																																	0													93	84	87					1																	169513654		2203	4300	6503	SO:0001583	missense	0			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.1855A>C	1.37:g.169513654T>G	ENSP00000356771:p.Asn619His		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.N619H	ENST00000367797.3	37	c.1855	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067811	0.76301	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99764	-6.68;-6.68	5.83	1.82	0.25136	Cupredoxin (2);	0.255897	0.43919	D	0.000505	D	0.98541	0.9513	L	0.43152	1.355	0.20489	N	0.999895	D	0.56521	0.976	P	0.47744	0.556	D	0.97850	1.0274	9	0.54805	T	0.06	-10.6843	9.1184	0.36773	0.0:0.6922:0.0:0.3078	.	619	P12259	FA5_HUMAN	H	619;624	ENSP00000356771:N619H;ENSP00000356770:N624H	ENSP00000356770:N624H	N	-	1	0	F5	167780278	0.924000	0.31332	0.999000	0.59377	0.979000	0.70002	1.163000	0.31798	0.344000	0.23847	-0.242000	0.12053	AAT	F5	-	superfamily_Cupredoxin	ENSG00000198734		0.478	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	-	0	43	0	T	NM_000130		169513654	-1	tier1	-	no_errors	ENST00000367797	ensembl	human	known	74_37	missense	16.67	44	9	SNP	1.000	G	G	169513654	T	G	169513654	3	3	128	1	0	0	0	0	1	0	0	0	5364	1783	62	4	4875	4	F5	1	169513654	Missense_Mutation	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09	17236805	169513654	79736967	8	32951											
USH2A	7399	genome.wustl.edu	37	chr1	215901650	215901650	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgaaaggcctcagggtgtCtccttcatccataaattcaa	11	12	8	10	0	4	1	3	1	1	0	6	1	5	1	3	2	0	0	3	2	4	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:215901650C>G	ENST00000307340.3	-	61	12174	c.11788G>C	c.(11788-11790)Gac>Cac	p.D3930H	USH2A_ENST00000366943.2_Missense_Mutation_p.D3930H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3930	Fibronectin type-III 24. {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)		CTCAGGGTGTCTCCTTCATCC	0.488										HNSCC(13;0.011)																																							0													96	96	96					1																	215901650		2203	4300	6503	SO:0001583	missense	0			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.11788G>C	1.37:g.215901650C>G	ENSP00000305941:p.Asp3930His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D3930H	ENST00000307340.3	37	c.11788	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	6.017	0.371453	0.11409	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.24	3.38	0.38709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.314638	0.22109	N	0.064509	T	0.49779	0.1577	M	0.72894	2.215	0.09310	N	1	P	0.39216	0.664	B	0.37550	0.253	T	0.47235	-0.9133	10	0.62326	D	0.03	.	9.1686	0.37067	0.0:0.7774:0.0:0.2226	.	3930	O75445	USH2A_HUMAN	H	3930	ENSP00000305941:D3930H;ENSP00000355910:D3930H	ENSP00000305941:D3930H	D	-	1	0	USH2A	213968273	0.387000	0.25188	0.000000	0.03702	0.002000	0.02628	2.555000	0.45854	0.598000	0.29829	-0.237000	0.12165	GAC	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	58	0	C	NM_007123		215901650	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	5.77	98	6	SNP	0.001	G	G	215901650	C	G	215901650	3	3	128	1	0	0	0	0	1	0	0	0	17085	913	32	5	3868	5	USH2A	1	215901650	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	46387996	215901650	33348971	9	32952											
RYR2	6262	genome.wustl.edu	37	chr1	237617836	237617836	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacaaacagaacagactaCgagccctgaagaatcggcaa	19	3	9	10	2	0	5	0	1	0	4	1	6	0	5	1	1	4	1	1	1	7	1			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:237617836C>T	ENST00000366574.2	+	15	1755	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.R464*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.R478*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	480					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)			GAACAGACTACGAGCCCTGAA	0.438																																																	0													72	72	72					1																	237617836		1899	4116	6015	SO:0001587	stop_gained	0			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.1438C>T	1.37:g.237617836C>T	ENSP00000355533:p.Arg480*		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R478*	ENST00000366574.2	37	c.1432	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.515027	0.97629	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.8	2.46	0.29980	.	0.000000	0.49916	U	0.000122	.	.	.	.	.	.	0.42886	D	0.994188	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.201	0.86906	0.3943:0.6057:0.0:0.0	.	.	.	.	X	480;478;464	.	ENSP00000353174:R478X	R	+	1	2	RYR2	235684459	0.002000	0.14202	0.008000	0.14137	0.985000	0.73830	0.019000	0.13444	0.735000	0.32537	0.551000	0.68910	CGA	RYR2	-	pfam_Ca-rel_channel	ENSG00000198626		0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	51	0	C	NM_001035		237617836	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	nonsense	81.05	18	77	SNP	0.011	T	T	237617836	C	T	237617836	4	4	128	1	0	0	0	0	0	1	0	0	13814	528	19	1	1496	1	RYR2	1	237617836	Nonsense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	21716186	237617836	11632785	10	32953											
EXO1	9156	genome.wustl.edu	37	chr1	242015637	242015637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaatatgttactatctCatgggatcaagcctattctc	11	16	6	8	0	3	0	2	0	2	0	5	1	3	1	1	1	2	2	1	1	7	7			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:242015637C>A	ENST00000366548.3	+	5	798	c.205C>A	c.(205-207)Cat>Aat	p.H69N	EXO1_ENST00000348581.5_Missense_Mutation_p.H69N|EXO1_ENST00000518483.1_Missense_Mutation_p.H69N|EXO1_ENST00000493702.1_Intron	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	69	N-domain.				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)			GTTACTATCTCATGGGATCAA	0.318								Editing and processing nucleases																																									0													160	169	166					1																	242015637		2203	4300	6503	SO:0001583	missense	0			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.205C>A	1.37:g.242015637C>A	ENSP00000355506:p.His69Asn		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.H69N	ENST00000366548.3	37	c.205	CCDS1620.1	1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257023	0.39896	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483;ENST00000450748	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	4.94	3.01	0.34805	XPG N-terminal (2);	0.223015	0.45361	D	0.000369	T	0.50069	0.1594	N	0.13352	0.335	0.24376	N	0.994814	D;D;P	0.58268	0.982;0.977;0.938	P;P;P	0.58970	0.849;0.765;0.693	T	0.32402	-0.9908	10	0.45353	T	0.12	-2.5421	6.8657	0.24093	0.0:0.6552:0.0:0.3448	.	69;69;69	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	N	69	ENSP00000355506:H69N;ENSP00000311873:H69N;ENSP00000430251:H69N;ENSP00000406652:H69N	ENSP00000311873:H69N	H	+	1	0	EXO1	240082260	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.169000	0.31871	1.066000	0.40716	0.467000	0.42956	CAT	EXO1	-	pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N	ENSG00000174371		0.318	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXO1	HGNC	protein_coding	OTTHUMT00000096405.1	-	0	32	0	C	NM_006027		242015637	1	tier1	-	no_errors	ENST00000348581	ensembl	human	known	74_37	missense	26.03	54	19	SNP	1.000	A	A	242015637	C	A	242015637	3	1	128	1	0	0	0	0	1	0	0	0	5316	826	29	3	211	3	EXO1	1	242015637	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	4397801	242015637	7234984	11	32954											
ZNF496	84838	genome.wustl.edu	37	chr1	247463850	247463850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcagagcctgcttggaacGgcgcttcatgtgcaggcgct	6	10	14	11	3	2	1	2	0	0	1	2	2	2	2	1	3	4	5	1	3	1	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr1:247463850G>A	ENST00000294753.4	-	9	2199	c.1735C>T	c.(1735-1737)Cgt>Tgt	p.R579C	ZNF496_ENST00000366498.2_Missense_Mutation_p.R615C|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	579					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGCTTGGAACGGCGCTTCATG	0.642																																																	0													46	45	45					1																	247463850		2203	4300	6503	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1735C>T	1.37:g.247463850G>A	ENSP00000294753:p.Arg579Cys		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R615C	ENST00000294753.4	37	c.1843	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813272	0.70912	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.08458	3.1;3.09	4.32	4.32	0.51571	Zinc finger, C2H2 (1);	0.000000	0.50627	D	0.000102	T	0.36358	0.0964	H	0.97340	3.985	0.53688	D	0.999972	B;D	0.76494	0.086;0.999	B;P	0.54965	0.023;0.765	T	0.59899	-0.7367	10	0.72032	D	0.01	-40.1058	14.6891	0.69070	0.0:0.0:1.0:0.0	.	615;579	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	C	579;615	ENSP00000294753:R579C;ENSP00000355454:R615C	ENSP00000294753:R579C	R	-	1	0	ZNF496	245530473	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.039000	0.76544	2.388000	0.81334	0.591000	0.81541	CGT	ZNF496	-	pfscan_Znf_C2H2	ENSG00000162714		0.642	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	-	0	37	0	G	NM_032752		247463850	-1	tier1	-	no_errors	ENST00000366498	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	A	A	247463850	G	A	247463850	3	1	128	1	0	0	0	0	1	0	0	0	17993	1116	39	1	32	1	ZNF496	1	247463850	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	5448213	247463850	1786771	12	32955											
NBAS	51594	genome.wustl.edu	37	chr2	15307195	15307195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccagtgctgtgctgcgcGgagggctgtactgaaggttc	6	9	15	11	2	0	1	0	1	0	0	1	2	0	2	1	3	4	5	1	3	2	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:15307195G>T	ENST00000281513.5	-	52	7118	c.7093C>A	c.(7093-7095)Cgc>Agc	p.R2365S	NBAS_ENST00000441750.1_Missense_Mutation_p.R2245S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2365					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						TGTGCTGCGCGGAGGGCTGTA	0.602																																																	0													45	50	48					2																	15307195		2203	4300	6503	SO:0001583	missense	0			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.7093C>A	2.37:g.15307195G>T	ENSP00000281513:p.Arg2365Ser		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.R2365S	ENST00000281513.5	37	c.7093	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	0.059	-1.229647	0.01518	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283	T;T	0.09073	3.02;3.19	5.49	-11.0	0.00169	.	0.820229	0.11796	N	0.528650	T	0.01730	0.0055	N	0.01267	-0.92	0.09310	N	1	B;B	0.23377	0.084;0.0	B;B	0.19391	0.025;0.001	T	0.44544	-0.9321	10	0.87932	D	0	.	2.9051	0.05718	0.1591:0.3546:0.2745:0.2118	.	2245;2365	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	S	2245;2365;178	ENSP00000413201:R2245S;ENSP00000281513:R2365S	ENSP00000281513:R2365S	R	-	1	0	NBAS	15224646	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.428000	0.06991	-2.330000	0.00633	-2.736000	0.00129	CGC	NBAS	-	NULL	ENSG00000151779		0.602	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1		0	19	0	G	NM_015909		15307195	-1			no_errors	ENST00000281513	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.000	T	T	15307195	G	T	15307195	3	4	128	1	0	0	0	0	1	0	0	0	10224	1116	39	2	26	2	NBAS	2	15307195	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09		15307195	227892178	13	32956											
NBAS	51594	genome.wustl.edu	37	chr2	15608590	15608590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaagcagttcttttgcaGcatccacattttcaggaact	11	13	7	10	0	2	1	1	1	1	0	3	2	3	2	1	1	4	4	1	1	2	5			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:15608590G>A	ENST00000281513.5	-	17	1818	c.1793C>T	c.(1792-1794)gCt>gTt	p.A598V	NBAS_ENST00000441750.1_Missense_Mutation_p.A598V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	598					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						TTCTTTTGCAGCATCCACATT	0.418																																																	0													127	126	126					2																	15608590		2203	4300	6503	SO:0001583	missense	0			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.1793C>T	2.37:g.15608590G>A	ENSP00000281513:p.Ala598Val		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.A598V	ENST00000281513.5	37	c.1793	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720447	0.89205	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.11821	2.74;2.9	5.93	5.93	0.95920	.	0.052012	0.85682	D	0.000000	T	0.42131	0.1189	M	0.76170	2.325	0.41436	D	0.98789	D	0.89917	1.0	D	0.83275	0.996	T	0.17992	-1.0351	10	0.87932	D	0	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	598	A2RRP1	NBAS_HUMAN	V	598	ENSP00000413201:A598V;ENSP00000281513:A598V	ENSP00000281513:A598V	A	-	2	0	NBAS	15526041	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.869000	0.99810	2.803000	0.96430	0.650000	0.86243	GCT	NBAS	-	NULL	ENSG00000151779		0.418	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	-	0	60	0	G	NM_015909		15608590	-1	tier1	-	no_errors	ENST00000281513	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	A	A	15608590	G	A	15608590	3	1	128	1	0	0	0	0	1	0	0	0	10224	971	34	3	5466	3	NBAS	2	15608590	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	301395	15608590	227590783	14	32957											
DNAH6	1768	genome.wustl.edu	37	chr2	84775508	84775508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgacatatacagaacaggCcagcaaaaggcattattgca	18	7	8	8	0	0	2	0	1	0	1	0	2	0	2	1	2	4	3	1	2	7	4			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:84775508C>T	ENST00000237449.6	+	7	1291	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	DNAH6_ENST00000398278.2_Missense_Mutation_p.A428V|DNAH6_ENST00000389394.3_Missense_Mutation_p.A428V			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	428	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						ACAGAACAGGCCAGCAAAAGG	0.368																																																	0													126	124	124					2																	84775508		2203	4300	6503	SO:0001583	missense	0			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.1283C>T	2.37:g.84775508C>T	ENSP00000237449:p.Ala428Val		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A428V	ENST00000237449.6	37	c.1283	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044860	0.93685	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.33438	1.41;1.49;1.41	5.44	5.44	0.79542	.	0.000000	0.50627	D	0.000113	T	0.56352	0.1979	M	0.74258	2.255	0.45962	D	0.998784	D;D	0.89917	0.997;1.0	D;D	0.74674	0.973;0.984	T	0.59590	-0.7426	10	0.72032	D	0.01	.	16.1753	0.81845	0.0:1.0:0.0:0.0	.	428;7	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	V	428	ENSP00000374045:A428V;ENSP00000381326:A428V;ENSP00000237449:A428V	ENSP00000237449:A428V	A	+	2	0	DNAH6	84629019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.107000	0.64603	2.543000	0.85770	0.591000	0.81541	GCC	DNAH6	-	NULL	ENSG00000115423		0.368	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0	37	0	C	NM_001370		84775508	1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	84775508	C	T	84775508	3	4	128	1	0	0	0	0	1	0	0	0	4619	739	26	3	1309	3	DNAH6	2	84775508	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	69166918	84775508	158423865	15	32958											
NEB	4703	genome.wustl.edu	37	chr2	152435902	152435902	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggatcacatcattctggtCgggaaagcaagaccagcggt	11	9	12	9	2	3	1	2	0	1	1	4	3	3	3	1	4	2	1	1	4	2	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:152435902C>T	ENST00000172853.10	-	78	11749				NEB_ENST00000427231.2_Missense_Mutation_p.D5552N|NEB_ENST00000604864.1_Missense_Mutation_p.D5552N|NEB_ENST00000603639.1_Missense_Mutation_p.D5552N|NEB_ENST00000409198.1_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.D5552N			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)		TCATTCTGGTCGGGAAAGCAA	0.552																																																	0													271	200	222					2																	152435902		692	1583	2275	SO:0001627	intron_variant	0			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.11602-3034G>A	2.37:g.152435902C>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.D5552N	ENST00000172853.10	37	c.16654		2	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652339	0.67472	.	.	ENSG00000183091	ENST00000397345;ENST00000427231;ENST00000413693	T;T;T	0.33865	1.39;1.39;1.39	4.95	4.95	0.65309	.	.	.	.	.	T	0.64316	0.2587	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68519	-0.5387	9	0.72032	D	0.01	.	18.7406	0.91772	0.0:1.0:0.0:0.0	.	282	Q14215	.	N	5552;5552;282	ENSP00000380505:D5552N;ENSP00000416578:D5552N;ENSP00000410961:D282N	ENSP00000380505:D5552N	D	-	1	0	NEB	152144148	1.000000	0.71417	0.991000	0.47740	0.458000	0.32498	7.604000	0.82830	2.733000	0.93635	0.514000	0.50259	GAC	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.552	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	84	0	C	NM_004543		152435902	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	18.27	84	19	SNP	1.000	T	T	152435902	C	T	152435902	1	4	128	0	1	0	0	0	0	0	0	0	10341	884	31	1		1	NEB	2	152435902	Intron	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	67660394	152435902	90763471	16	32959											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagaaattcacctgtctCttcatctagttgtaactgag	10	14	9	8	0	4	2	2	1	2	1	5	3	4	2	1	1	1	2	1	1	3	5			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		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)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	20	Substitution - Missense(20)	lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)											147	146	146					2																	178098810		1899	4107	6006	SO:0001583	missense	0				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.235G>C	2.37:g.178098810C>G	ENSP00000380252:p.Glu79Gln		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E79Q	ENST00000397062.3	37	c.235	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647218	0.67358	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	63;79;63;63;63;63;63	ENSP00000380253:E63Q;ENSP00000380252:E79Q;ENSP00000411575:E63Q;ENSP00000391590:E63Q;ENSP00000400073:E63Q;ENSP00000412191:E63Q;ENSP00000410015:E63Q	ENSP00000380252:E79Q	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG	NFE2L2	-	NULL	ENSG00000116044		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0	66	0	C	NM_006164		178098810	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	50.89	55	57	SNP	1.000	G	G	178098810	C	G	178098810	3	3	128	1	0	0	0	0	1	0	0	0	10407	922	32	5	1598	5	NFE2L2	2	178098810	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	25662908	178098810	65100563	17	32960											
TTN	7273	genome.wustl.edu	37	chr2	179597727	179597727	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctatttctttgccatcCttaaaccaggacaccctcat	10	12	5	14	0	2	0	1	0	1	0	3	1	3	1	4	1	3	2	4	1	3	4			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr2:179597727C>G	ENST00000591111.1	-	53	15449	c.15225G>C	c.(15223-15225)aaG>aaC	p.K5075N	TTN_ENST00000342992.6_Missense_Mutation_p.K4148N|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K5392N			Q8WZ42	TITIN_HUMAN	titin	12446	Ig-like 31.				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)			CTTTGCCATCCTTAAACCAGG	0.478																																																	0													72	66	68					2																	179597727		1912	4135	6047	SO:0001583	missense	0			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.15225G>C	2.37:g.179597727C>G	ENSP00000465570:p.Lys5075Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K4148N	ENST00000591111.1	37	c.12444		2	.	.	.	.	.	.	.	.	.	.	C	6.288	0.421202	0.11928	.	.	ENSG00000155657	ENST00000342992	T	0.54675	0.56	6.17	3.43	0.39272	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77198	0.4095	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80518	-0.1347	9	0.87932	D	0	.	9.626	0.39750	0.0:0.7367:0.0:0.2632	.	5075	Q8WZ42	TITIN_HUMAN	N	4148	ENSP00000343764:K4148N	ENSP00000343764:K4148N	K	-	3	2	TTN	179305972	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	1.358000	0.34102	0.954000	0.37851	-0.136000	0.14681	AAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	52	0	C	NM_133378		179597727	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	G	G	179597727	C	G	179597727	3	3	128	1	0	0	0	0	1	0	0	0	16784	680	24	5	88585	5	TTN	2	179597727	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	1498917	179597727	63601646	18	32961											
BHLHE40	8553	genome.wustl.edu	37	chr3	5025110	5025110	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcctttctgcctgccCttctacctgatcccaccttc	4	13	4	20	0	2	1	0	1	2	0	5	1	4	1	7	0	4	0	7	0	1	4			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:5025110C>T	ENST00000256495.3	+	5	1575	c.972C>T	c.(970-972)ccC>ccT	p.P324P		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	324					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						TCTGCCTGCCCTTCTACCTGA	0.587																																																	0													170	129	143					3																	5025110		2203	4300	6503	SO:0001819	synonymous_variant	0			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.972C>T	3.37:g.5025110C>T			Q96TD3	Silent	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.P324	ENST00000256495.3	37	c.972	CCDS2565.1	3																																																																																			BHLHE40	-	NULL	ENSG00000134107		0.587	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE40	HGNC	protein_coding	OTTHUMT00000239244.2		0	57	0	C	NM_003670		5025110	1			no_errors	ENST00000256495	ensembl	human	known	74_37	silent	5.36	53	3	SNP	1.000	T	T	5025110	C	T	5025110	2	4	128	1	0	0	0	0	0	0	0	1	1425	668	24	3		3	BHLHE40	3	5025110	Silent	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09		5025110	192997320	19	32962											
IQSEC1	9922	genome.wustl.edu	37	chr3	12966156	12966156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgccggctgaggcccttgCgctgcagcaggaagtgggcc	5	7	16	13	2	1	1	0	1	1	0	1	2	1	2	3	4	4	4	3	4	1	1			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:12966156C>T	ENST00000273221.4	-	4	1913	c.1697G>A	c.(1696-1698)cGc>cAc	p.R566H		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	566	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGGCCCTTGCGCTGCAGCAG	0.637																																																	0													98	78	85					3																	12966156		2203	4300	6503	SO:0001583	missense	0			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1697G>A	3.37:g.12966156C>T	ENSP00000273221:p.Arg566His		O94863|Q96D85	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.R566H	ENST00000273221.4	37	c.1697	CCDS33703.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.390555	0.95988	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.55234	0.53;0.53	4.28	4.28	0.50868	SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.79841	-0.1633	9	0.87932	D	0	.	17.0637	0.86554	0.0:1.0:0.0:0.0	.	552;552;566	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	H	566;552;552	ENSP00000273221:R566H;ENSP00000402299:R552H	ENSP00000273221:R566H	R	-	2	0	IQSEC1	12941156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.733000	0.84916	2.085000	0.62840	0.655000	0.94253	CGC	IQSEC1	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000144711		0.637	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	HGNC	protein_coding	OTTHUMT00000339865.2	-	0	75	0	C	NM_014869		12966156	-1	tier1	-	no_errors	ENST00000273221	ensembl	human	known	74_37	missense	71.23	21	52	SNP	1.000	T	T	12966156	C	T	12966156	3	4	128	1	0	0	0	0	1	0	0	0	7844	768	27	1	1783	1	IQSEC1	3	12966156	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	7941046	12966156	185056274	20	32963											
TGFBR2	7048	genome.wustl.edu	37	chr3	30713885	30713885	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttgggctttccctgcgtCtggaccctactctgtctgtg	3	15	10	13	1	3	0	0	0	3	0	4	1	4	1	2	2	2	1	2	2	1	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:30713885C>G	ENST00000295754.5	+	4	1592	c.1210C>G	c.(1210-1212)Ctg>Gtg	p.L404V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.L429V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	404	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|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 II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTCCCTGCGTCTGGACCCTAC	0.552																																																	0													284	253	263					3																	30713885		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1210C>G	3.37:g.30713885C>G	ENSP00000295754:p.Leu404Val		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.L429V	ENST00000295754.5	37	c.1285	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313494	0.60414	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.66460	-0.21;-0.21	5.13	2.31	0.28768	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	0.73410	0.3583	L	0.48260	1.515	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71371	-0.4613	10	0.48119	T	0.1	.	10.8799	0.46933	0.0:0.7902:0.0:0.2098	.	404;429	P37173;D2JYI1	TGFR2_HUMAN;.	V	404;429;234	ENSP00000295754:L404V;ENSP00000351905:L429V	ENSP00000295754:L404V	L	+	1	2	TGFBR2	30688889	0.953000	0.32496	0.899000	0.35326	0.997000	0.91878	2.190000	0.42630	0.553000	0.29044	0.650000	0.86243	CTG	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	ENSG00000163513		0.552	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0	21	0	C			30713885	1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	80.95	4	17	SNP	0.976	G	G	30713885	C	G	30713885	3	3	128	1	0	0	0	0	1	0	0	0	15869	912	32	5	1303	5	TGFBR2	3	30713885	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	17747729	30713885	167308545	21	32964											
TRIM71	131405	genome.wustl.edu	37	chr3	32932232	32932232	+	Silent	SNP	C	C	T	0	0	0	1	1	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	acagtcattggttatgaccaCgatggtgagccccgcctctc	8	10	10	13	2	2	2	1	2	1	0	3	3	2	2	4	2	1	1	4	2	1	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:32932232C>T	ENST00000383763.5	+	4	1599	c.1536C>T	c.(1534-1536)caC>caT	p.H512H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	512					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						GTTATGACCACGATGGTGAGC	0.617																																																	0													48	51	50					3																	32932232		2090	4212	6302	SO:0001819	synonymous_variant	0				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1536C>T	3.37:g.32932232C>T				Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.H512	ENST00000383763.5	37	c.1536	CCDS43060.1	3																																																																																			TRIM71	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000206557		0.617	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	HGNC	protein_coding	OTTHUMT00000341565.3	-	0	13	0	C	NM_001039111		32932232	1	tier1	-	no_errors	ENST00000383763	ensembl	human	known	74_37	silent	27.78	13	5	SNP	0.990	T	T	32932232	C	T	32932232	2	4	128	1	0	0	0	0	0	0	0	1	16592	535	19	1		1	TRIM71	3	32932232	Silent	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	2218347	32932232	165090198	22	32965											
MYLK	4638	genome.wustl.edu	37	chr3	123356985	123356985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gatgggctcatagttgatcaCttcaggagccacaaattctg	11	11	10	9	0	4	1	3	1	1	0	4	3	4	2	1	2	1	2	1	2	2	4			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr3:123356985C>A	ENST00000475616.1	-	26	4893	c.4894G>T	c.(4894-4896)Gtg>Ttg	p.V1632L	MYLK_ENST00000359169.1_Missense_Mutation_p.V1632L|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.V1632L|MYLK_ENST00000346322.5_Missense_Mutation_p.V1563L|MYLK_ENST00000354792.5_Missense_Mutation_p.V432L|MYLK_ENST00000360772.3_Missense_Mutation_p.V1632L			Q15746	MYLK_HUMAN	myosin light chain kinase	1632	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TAGTTGATCACTTCAGGAGCC	0.547																																																	0													73	67	69					3																	123356985		2203	4300	6503	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4894G>T	3.37:g.123356985C>A	ENSP00000418335:p.Val1632Leu		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V1632L	ENST00000475616.1	37	c.4894	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837174	0.71373	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.13	4.26	0.50523	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	0.52224	0.1721	L	0.33792	1.035	0.53005	D	0.99996	B;P;B;P;B	0.44044	0.037;0.825;0.16;0.523;0.046	B;B;B;B;B	0.33846	0.057;0.171;0.09;0.171;0.095	T	0.58405	-0.7642	9	0.72032	D	0.01	.	13.593	0.61971	0.0:0.9248:0.0:0.0752	.	1632;1563;1632;1563;1632	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	L	1632;1632;1632;1563;432;1632	ENSP00000354004:V1632L;ENSP00000353452:V1632L;ENSP00000352088:V1632L;ENSP00000320622:V1563L;ENSP00000346846:V432L;ENSP00000418335:V1632L	ENSP00000320622:V1563L	V	-	1	0	MYLK	124839675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.747000	0.85070	1.168000	0.42723	0.455000	0.32223	GTG	MYLK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000065534		0.547	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	-	0	72	0	C	NM_053025		123356985	-1	tier1	-	no_errors	ENST00000360304	ensembl	human	known	74_37	missense	43.08	37	28	SNP	1.000	A	A	123356985	C	A	123356985	3	1	128	1	0	0	0	0	1	0	0	0	10094	565	20	3	874	3	MYLK	3	123356985	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	90424753	123356985	74665445	23	32966											
DCAF4L1	285429	genome.wustl.edu	37	chr4	41984513	41984513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagcagtttgctagtaCggctcctttgctgtttaatg	6	14	11	10	1	0	0	0	0	0	0	1	0	1	0	2	2	4	7	2	2	3	6			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr4:41984513C>T	ENST00000333141.5	+	1	801	c.704C>T	c.(703-705)aCg>aTg	p.T235M		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	235										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TTTGCTAGTACGGCTCCTTTG	0.562																																																	0													157	152	154					4																	41984513		2203	4300	6503	SO:0001583	missense	0			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.704C>T	4.37:g.41984513C>T	ENSP00000327796:p.Thr235Met		B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T235M	ENST00000333141.5	37	c.704	CCDS33978.1	4	.	.	.	.	.	.	.	.	.	.	C	2.953	-0.216376	0.06101	.	.	ENSG00000182308	ENST00000333141	T	0.19806	2.12	0.688	-1.02	0.10135	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.054160	0.07227	N	0.861930	T	0.07188	0.0182	N	0.03324	-0.35	0.09310	N	1	B	0.21071	0.051	B	0.04013	0.001	T	0.34601	-0.9822	10	0.20519	T	0.43	.	2.3984	0.04395	0.3222:0.354:0.3237:0.0	.	235	Q3SXM0	DC4L1_HUMAN	M	235	ENSP00000327796:T235M	ENSP00000327796:T235M	T	+	2	0	DCAF4L1	41679270	0.979000	0.34478	0.020000	0.16555	0.031000	0.12232	1.332000	0.33805	-0.381000	0.07882	0.313000	0.20887	ACG	DCAF4L1	-	superfamily_WD40_repeat_dom	ENSG00000182308		0.562	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1		0	35	0	C	NM_001029955		41984513	1			no_errors	ENST00000333141	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.151	T	T	41984513	C	T	41984513	3	4	128	1	0	0	0	0	1	0	0	0	4280	536	19	1	706	1	DCAF4L1	4	41984513	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09		41984513	149169763	24	32967											
ATP10D	57205	genome.wustl.edu	37	chr4	47560156	47560156	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accattaacatttcaactccTacacatcctgccctttgact	11	13	2	15	0	1	1	1	1	0	0	3	1	3	1	4	0	4	0	4	0	3	4			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr4:47560156T>G	ENST00000273859.3	+	12	2569	c.2300T>G	c.(2299-2301)cTa>cGa	p.L767R	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	767					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						TTTCAACTCCTACACATCCTG	0.483																																																	0													139	117	124					4																	47560156		2203	4300	6503	SO:0001583	missense	0			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.2300T>G	4.37:g.47560156T>G	ENSP00000273859:p.Leu767Arg		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L767R	ENST00000273859.3	37	c.2300	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067164	0.55539	.	.	ENSG00000145246	ENST00000273859	D	0.83914	-1.78	5.14	5.14	0.70334	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000001	D	0.93035	0.7783	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94653	0.7841	10	0.87932	D	0	-9.342	14.2803	0.66208	0.0:0.0:0.0:1.0	.	767	Q9P241	AT10D_HUMAN	R	767	ENSP00000273859:L767R	ENSP00000273859:L767R	L	+	2	0	ATP10D	47254913	1.000000	0.71417	0.896000	0.35187	0.060000	0.15804	7.864000	0.87037	2.164000	0.68074	0.459000	0.35465	CTA	ATP10D	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.483	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	-	0	37	0	T	NM_020453		47560156	1	tier1	-	no_errors	ENST00000273859	ensembl	human	known	74_37	missense	43.94	37	29	SNP	0.996	G	G	47560156	T	G	47560156	3	3	128	1	0	0	0	0	1	0	0	0	1119	1522	53	4	2342	4	ATP10D	4	47560156	Missense_Mutation	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09	5575643	47560156	143594120	25	32968											
PROL1	58503	genome.wustl.edu	37	chr4	71275204	71275205	+	Nonsense_Mutation	DNP	TG	TG	AA																															ccaagtcccccacctccctaTgactcaagacttaattcacc																										TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr4:71275204_71275205TG>AA	ENST00000399575.2	+	3	333_334	c.159_160TG>AA	c.(157-162)taTGac>taAAac	p.53_54YD>*N	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	53	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CACCTCCCTATGACTCAAGACT	0.495																																																	0																																										SO:0001587	stop_gained	0			S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	Exception_encountered	4.37:g.71275204_71275205delinsAA	ENSP00000382485:p.Y53_D54delins*N		A8MZ07|P85047	Nonsense_Mutation|Missense_Mutation	SNP	NULL	p.Y53*|p.D54N	ENST00000399575.2	37	c.159|c.160	CCDS43235.1	4																																																																																			PROL1	-	NULL	ENSG00000171199		0.495	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	PROL1	HGNC	protein_coding	OTTHUMT00000362639.1	-	0	35	0	T|G	NM_021225		71275204|71275205	1	tier1	-	no_errors	ENST00000399575	ensembl	human	putative	74_37	nonsense|missense	66.67|69.44	11	22|25	SNP	0.000	A	AA	71275205	TG	AA	71275204	4	1	128	1	0	0	0	0	0	1	0	0	12596	1471	51	5	165	5	PROL1	4	71275204	Nonsense_Mutation	DNP	TG	TCGA-LN-A7HZ-01A-31D-A351-09	23715048	71275204	119879072	26	32969											
PCDH10	57575	genome.wustl.edu	37	chr4	134072084	134072084	+	Silent	SNP	T	T	C	0	1	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	gtgtccctaccagagaactcTcccccaggcactctcgtgat	8	9	8	16	1	2	2	0	1	2	1	5	3	3	2	4	1	2	1	4	1	2	1			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr4:134072084T>C	ENST00000264360.5	+	1	1615	c.789T>C	c.(787-789)tcT>tcC	p.S263S	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	263	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(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)		CAGAGAACTCTCCCCCAGGCA	0.622																																																	0													91	89	90					4																	134072084		2203	4300	6503	SO:0001819	synonymous_variant	0			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.789T>C	4.37:g.134072084T>C			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S263	ENST00000264360.5	37	c.789	CCDS34063.1	4																																																																																			PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000138650		0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	32	0	T	NM_032961		134072084	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.686	C	C	134072084	T	C	134072084	2	2	128	1	0	0	0	0	0	0	0	1	11546	1538	54	4		4	PCDH10	4	134072084	Silent	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09	62796880	134072084	57082192	27	32970											
RAPGEF2	9693	genome.wustl.edu	37	chr4	160259537	160259537	+	Missense_Mutation	SNP	T	T	G	0	1	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	aaagcacatcccaactgcatTgcctgtcagtggaaccttat	12	10	7	12	0	1	0	1	0	0	0	2	1	2	1	3	1	5	2	3	1	4	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr4:160259537T>G	ENST00000264431.4	+	12	2146	c.1727T>G	c.(1726-1728)tTg>tGg	p.L576W		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	576					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CCAACTGCATTGCCTGTCAGT	0.413																																																	0													165	158	160					4																	160259537		2007	4188	6195	SO:0001583	missense	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1727T>G	4.37:g.160259537T>G	ENSP00000264431:p.Leu576Trp		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L576W	ENST00000264431.4	37	c.1727	CCDS43277.1	4	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435983	0.83885	.	.	ENSG00000109756	ENST00000264431	T	0.41400	1.0	5.63	5.63	0.86233	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.47716	1.5	0.51767	D	0.999939	D	0.57899	0.981	P	0.54759	0.76	T	0.55101	-0.8193	10	0.87932	D	0	.	15.8522	0.78940	0.0:0.0:0.0:1.0	.	576	Q9Y4G8	RPGF2_HUMAN	W	576	ENSP00000264431:L576W	ENSP00000264431:L576W	L	+	2	0	RAPGEF2	160478987	1.000000	0.71417	0.672000	0.29872	0.989000	0.77384	7.698000	0.84413	2.144000	0.66660	0.528000	0.53228	TTG	RAPGEF2	-	superfamily_Ras_GEF_dom	ENSG00000109756		0.413	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	-	0	87	0	T	NM_014247		160259537	1	tier1	-	no_errors	ENST00000264431	ensembl	human	known	74_37	missense	75.76	16	50	SNP	0.975	G	G	160259537	T	G	160259537	3	3	128	1	0	0	0	0	1	0	0	0	13089	1821	63	4	1773	4	RAPGEF2	4	160259537	Missense_Mutation	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09	26187453	160259537	30894739	28	32971											
TRPC7	57113	genome.wustl.edu	37	chr5	135692820	135692820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctctaggtgctcgttgcccaCggccagctgcagagcgttct	5	10	12	14	3	2	1	0	0	2	1	3	1	2	1	2	2	5	5	2	2	1	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr5:135692820C>T	ENST00000513104.1	-	2	538	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	TRPC7_ENST00000355180.3_Missense_Mutation_p.V86M|TRPC7_ENST00000426057.2_Missense_Mutation_p.V86M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	86					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V86M(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGTTGCCCACGGCCAGCTGC	0.597																																																	2	Substitution - Missense(2)	prostate(2)											76	85	82					5																	135692820		2200	4300	6500	SO:0001583	missense	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.256G>A	5.37:g.135692820C>T	ENSP00000426070:p.Val86Met		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.V86M	ENST00000513104.1	37	c.256	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.381713|4.381713	0.82792|0.82792	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|T;T;T	.|0.67171	.|-0.25;-0.25;-0.25	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Ankyrin repeat-containing domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83147|0.83147	0.5191|0.5191	M|M	0.81497|0.81497	2.545|2.545	0.43191|0.43191	D|D	0.995021|0.995021	.|D;D;D;D	.|0.89917	.|0.999;0.999;1.0;1.0	.|D;P;D;D	.|0.91635	.|0.993;0.784;0.999;0.998	D|D	0.85504|0.85504	0.1193|0.1193	5|10	.|0.87932	.|D	.|0	-22.3339|-22.3339	18.5076|18.5076	0.90902|0.90902	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|86;86;86;86	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	H|M	85|86	.|ENSP00000347312:V86M;ENSP00000441628:V86M;ENSP00000426070:V86M	.|ENSP00000265193:V86M	R|V	-|-	2|1	0|0	TRPC7|TRPC7	135720719|135720719	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.992000|0.992000	0.81027|0.81027	7.651000|7.651000	0.83577|0.83577	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	CGT|GTG	TRPC7	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel	ENSG00000069018		0.597	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	-	0	23	0	C	NM_020389		135692820	-1	tier1	-	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	66.67	7	14	SNP	1.000	T	T	135692820	C	T	135692820	3	4	128	1	0	0	0	0	1	0	0	0	16632	536	19	1	2376	1	TRPC7	5	135692820	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09		135692820	45222440	29	32972											
GRM6	2916	genome.wustl.edu	37	chr5	178413399	178413399	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagctgagctctcggcccGaggcccggacgatgggcgtg	5	6	17	13	6	1	1	0	1	1	0	2	4	1	2	2	4	2	3	2	4	1	1	rs140271739	byFrequency	TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr5:178413399G>T	ENST00000517717.1	-	9	1894	c.1856C>A	c.(1855-1857)tCg>tAg	p.S619*	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Nonsense_Mutation_p.S619*			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	619					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)		CTCTCGGCCCGAGGCCCGGAC	0.682																																																	0													43	40	41					5																	178413399		2203	4300	6503	SO:0001587	stop_gained	0			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.1856C>A	5.37:g.178413399G>T	ENSP00000430767:p.Ser619*			Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.S619*	ENST00000517717.1	37	c.1856	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	G	40	7.921986	0.98563	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	.	.	.	5.02	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.394	0.49830	0.0897:0.0:0.9103:0.0	.	.	.	.	X	775;619;619	.	ENSP00000231188:S619X	S	-	2	0	GRM6	178346005	1.000000	0.71417	0.945000	0.38365	0.815000	0.46073	9.661000	0.98601	1.246000	0.43901	0.462000	0.41574	TCG	GRM6	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000113262		0.682	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2		0	39	0	G			178413399	-1			no_errors	ENST00000231188	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.997	T	T	178413399	G	T	178413399	4	4	128	1	0	0	0	0	0	1	0	0	6828	1059	37	2	789	2	GRM6	5	178413399	Nonsense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	42720579	178413399	2501861	30	32973											
PRSS16	10279	genome.wustl.edu	37	chr6	27215748	27215748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgagcctggggccaggtgCtgcagccctcccaaaagtgg	7	6	14	14	0	0	1	0	1	0	0	1	1	1	1	5	4	4	2	5	4	2	0			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:27215748C>T	ENST00000230582.3	+	2	173	c.158C>T	c.(157-159)gCt>gTt	p.A53V	PRSS16_ENST00000421826.2_Missense_Mutation_p.A53V	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	53					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGGCCAGGTGCTGCAGCCCTC	0.642																																					NSCLC(178;1118 2105 17078 23587 44429)												0													47	47	47					6																	27215748		2203	4300	6503	SO:0001583	missense	0			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.158C>T	6.37:g.27215748C>T	ENSP00000230582:p.Ala53Val		O75416	Missense_Mutation	SNP	pfam_Peptidase_S28	p.A53V	ENST00000230582.3	37	c.158	CCDS4623.1	6	.	.	.	.	.	.	.	.	.	.	c	11.01	1.512897	0.27123	.	.	ENSG00000112812	ENST00000421826;ENST00000230582;ENST00000343467;ENST00000348953	T;T	0.45668	0.89;2.47	2.54	1.66	0.24008	.	1.160040	0.06580	N	0.750147	T	0.09024	0.0223	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.30119	-0.9989	10	0.27082	T	0.32	-0.4867	5.3521	0.16042	0.0:0.8352:0.0:0.1648	.	53;53	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	V	53	ENSP00000404349:A53V;ENSP00000230582:A53V	ENSP00000230582:A53V	A	+	2	0	PRSS16	27323727	0.000000	0.05858	0.001000	0.08648	0.270000	0.26580	-1.395000	0.02516	0.650000	0.30769	0.563000	0.77884	GCT	PRSS16	-	NULL	ENSG00000112812		0.642	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS16	HGNC	protein_coding	OTTHUMT00000043418.2		0	40	0	C			27215748	1			no_errors	ENST00000230582	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.001	T	T	27215748	C	T	27215748	3	4	128	1	0	0	0	0	1	0	0	0	12658	797	28	3	164	3	PRSS16	6	27215748	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09		27215748	143899319	31	32974											
LHFPL5	222662	genome.wustl.edu	37	chr6	35773672	35773672	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtaacgtgctgtcctcCgagctcatctgcaagggcgg	6	9	15	11	3	2	0	1	0	1	0	4	1	4	0	2	3	4	4	2	3	2	1	rs541264130		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:35773672C>T	ENST00000373853.1	+	1	603	c.225C>T	c.(223-225)tcC>tcT	p.S75S	LHFPL5_ENST00000360215.1_Silent_p.S75S			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	75					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGCTGTCCTCCGAGCTCATCT	0.582													c|||	1	0.000199681	0	0	5008	,	,		19218	0		0	False		,,,				2504	0.001																0													225	209	214					6																	35773672		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"deafness, autosomal recessive 67"	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.225C>T	6.37:g.35773672C>T			B3KX66	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.S75	ENST00000373853.1	37	c.225	CCDS4812.1	6																																																																																			LHFPL5	-	pfam_Lipome_HGMIC_fus_partner-like	ENSG00000197753		0.582	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL5	HGNC	protein_coding	OTTHUMT00000040323.1	-	0	39	0	C	NM_182548		35773672	1	tier1	-	no_errors	ENST00000360215	ensembl	human	known	74_37	silent	24.00	19	6	SNP	0.005	T	T	35773672	C	T	35773672	2	4	128	1	0	0	0	0	0	0	0	1	8797	639	23	1		1	LHFPL5	6	35773672	Silent	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	8557924	35773672	135341395	32	32975											
TNFRSF21	27242	genome.wustl.edu	37	chr6	47202574	47202574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtttcgcgttggggctggGgatggggctcgggctaagcg	5	9	20	7	4	0	0	0	0	0	0	2	1	0	1	0	7	1	5	0	7	2	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:47202574G>T	ENST00000296861.2	-	5	1963	c.1570C>A	c.(1570-1572)Ccc>Acc	p.P524T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	524					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ttggggctggggatggggctc	0.522																																																	0													22	23	23					6																	47202574		2202	4298	6500	SO:0001583	missense	0			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1570C>A	6.37:g.47202574G>T	ENSP00000296861:p.Pro524Thr		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21	p.P524T	ENST00000296861.2	37	c.1570	CCDS4921.1	6	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038628	0.35989	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.64260	-0.09	4.77	3.89	0.44902	.	0.502212	0.21547	N	0.072791	T	0.29389	0.0732	N	0.24115	0.695	0.33184	D	0.549967	P	0.34462	0.454	B	0.24974	0.057	T	0.27157	-1.0082	10	0.72032	D	0.01	.	13.9151	0.63893	0.0:0.2902:0.7098:0.0	.	524	O75509	TNR21_HUMAN	T	524;213	ENSP00000296861:P524T	ENSP00000296861:P524T	P	-	1	0	TNFRSF21	47310533	1.000000	0.71417	0.903000	0.35520	0.621000	0.37620	3.927000	0.56499	1.124000	0.41980	0.462000	0.41574	CCC	TNFRSF21	-	NULL	ENSG00000146072		0.522	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1		0	69	0	G	NM_014452		47202574	-1			no_errors	ENST00000296861	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.957	T	T	47202574	G	T	47202574	3	4	128	1	0	0	0	0	1	0	0	0	16342	1232	43	3	405	3	TNFRSF21	6	47202574	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	11428902	47202574	123912493	33	32976											
GPR63	81491	genome.wustl.edu	37	chr6	97247193	97247193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtaagaatagttaccaGggcaaagggcatgttcagca	14	8	13	6	0	1	1	1	0	0	1	1	1	1	1	1	3	2	7	1	3	6	5			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:97247193G>T	ENST00000229955.3	-	2	760	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	GPR63_ENST00000417980.1_Missense_Mutation_p.L139M	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ATAGTTACCAGGGCAAAGGGC	0.438																																																	0													75	75	75					6																	97247193		2203	4300	6503	SO:0001583	missense	0			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.415C>A	6.37:g.97247193G>T	ENSP00000229955:p.Leu139Met		Q9UJH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L139M	ENST00000229955.3	37	c.415	CCDS5036.1	6	.	.	.	.	.	.	.	.	.	.	G	11.90	1.778058	0.31502	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.48201	0.82;0.82;0.82	4.83	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.47655	0.1457	M	0.69523	2.12	0.49213	D	0.999767	D	0.89917	1.0	D	0.79108	0.992	T	0.47262	-0.9131	10	0.49607	T	0.09	-7.8805	4.7157	0.12894	0.2871:0.1581:0.5549:0.0	.	139	Q9BZJ6	GPR63_HUMAN	M	163;139;139;139	ENSP00000393170:L139M;ENSP00000229955:L139M;ENSP00000358273:L139M	ENSP00000229955:L139M	L	-	1	2	GPR63	97353914	1.000000	0.71417	0.472000	0.27241	0.849000	0.48306	1.443000	0.35057	0.078000	0.16900	0.555000	0.69702	CTG	GPR63	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000112218		0.438	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR63	HGNC	protein_coding	OTTHUMT00000041566.2		0	44	0	G			97247193	-1			no_errors	ENST00000229955	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	97247193	G	T	97247193	3	4	128	1	0	0	0	0	1	0	0	0	6730	991	35	3	848	3	GPR63	6	97247193	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	50044619	97247193	73867874	34	32977											
FBXL4	26235	genome.wustl.edu	37	chr6	99322298	99322298	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagttttcttaaggatgcCggacttaccattcttgttcc	8	15	9	9	1	2	0	0	0	2	0	3	3	3	3	3	3	2	2	3	3	2	7	rs373647205		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:99322298C>G	ENST00000369244.2	-	10	2150	c.1722G>C	c.(1720-1722)ccG>ccC	p.P574P	FBXL4_ENST00000229971.1_Silent_p.P574P	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	574					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.P574P(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTAAGGATGCCGGACTTACCA	0.348																																																	1	Substitution - coding silent(1)	endometrium(1)											103	107	105					6																	99322298		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1722G>C	6.37:g.99322298C>G			B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Silent	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.P574	ENST00000369244.2	37	c.1722	CCDS5041.1	6																																																																																			FBXL4	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000112234		0.348	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	-	0	12	0	C			99322298	-1	tier1	-	no_errors	ENST00000229971	ensembl	human	known	74_37	silent	30.43	16	7	SNP	0.002	G	G	99322298	C	G	99322298	2	3	128	1	0	0	0	0	0	0	0	1	5743	639	23	5		5	FBXL4	6	99322298	Silent	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	2075105	99322298	71792769	35	32978											
CTAGE9	643854	genome.wustl.edu	37	chr6	132031717	132031717	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaagtctttttctagacaGaggatttcatcctcaagttc	10	17	6	8	0	4	2	2	0	2	2	6	3	5	3	1	1	0	1	1	1	3	7			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:132031717G>T	ENST00000314099.8	-	1	489	c.441C>A	c.(439-441)ctC>ctA	p.L147L	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	147						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TTTCTAGACAGAGGATTTCAT	0.403																																																	0													8	6	7					6																	132031717		661	1509	2170	SO:0001819	synonymous_variant	0				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.441C>A	6.37:g.132031717G>T				Silent	SNP	NULL	p.L147	ENST00000314099.8	37	c.441	CCDS47475.1	6																																																																																			CTAGE9	-	NULL	ENSG00000236761		0.403	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	-	0	127	0	G	NM_001145659		132031717	-1	tier1	-	no_errors	ENST00000314099	ensembl	human	known	74_37	silent	25.44	85	29	SNP	0.007	T	T	132031717	G	T	132031717	2	4	128	1	0	0	0	0	0	0	0	1	4005	929	33	3		3	CTAGE9	6	132031717	Silent	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	32709419	132031717	39083350	36	32979											
CTGF	1490	genome.wustl.edu	37	chr6	132271549	132271549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcagggctgggcagacGaacgtccatgctgcacaggg	9	5	16	11	2	1	1	1	0	0	1	2	2	2	1	1	3	3	5	1	3	1	0			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:132271549G>T	ENST00000367976.3	-	3	624	c.424C>A	c.(424-426)Cgt>Agt	p.R142S	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	142	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)	p.R142C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTGGGCAGACGAACGTCCATG	0.652											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(127;510 1660 12817 24400 38449)												1	Substitution - Missense(1)	lung(1)											67	63	65					6																	132271549		2203	4300	6503	SO:0001583	missense	0			X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.424C>A	6.37:g.132271549G>T	ENSP00000356954:p.Arg142Ser	1594	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R142S	ENST00000367976.3	37	c.424	CCDS5151.1	6	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577358	0.45902	.	.	ENSG00000118523	ENST00000367976	T	0.78595	-1.19	5.48	3.63	0.41609	von Willebrand factor, type C (4);	0.109676	0.64402	D	0.000008	T	0.58991	0.2161	L	0.28115	0.83	0.52099	D	0.999941	D	0.57571	0.98	P	0.54460	0.753	T	0.64765	-0.6330	10	0.02654	T	1	.	15.7037	0.77560	0.0:0.2595:0.7405:0.0	.	142	P29279	CTGF_HUMAN	S	142	ENSP00000356954:R142S	ENSP00000356954:R142S	R	-	1	0	CTGF	132313242	1.000000	0.71417	0.759000	0.31340	0.989000	0.77384	6.085000	0.71343	0.627000	0.30340	0.561000	0.74099	CGT	CTGF	-	pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C	ENSG00000118523		0.652	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTGF	HGNC	protein_coding	OTTHUMT00000042239.2	-	0	40	0	G	NM_001901		132271549	-1	tier1	-	no_errors	ENST00000367976	ensembl	human	known	74_37	missense	56.67	13	17	SNP	0.945	T	T	132271549	G	T	132271549	3	4	128	1	0	0	0	0	1	0	0	0	4017	1058	37	2	637	2	CTGF	6	132271549	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	239832	132271549	38843518	37	32980											
MYCT1	80177	genome.wustl.edu	37	chr6	153019103	153019103	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgctgtactacaaagagaTagaatcaaactgcttttttt	13	15	6	7	0	1	2	1	0	0	2	1	3	1	2	0	0	5	3	0	0	6	7	rs3841162|rs199760621|rs71713548	byFrequency	TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:153019103T>G	ENST00000367245.5	+	1	74	c.66T>G	c.(64-66)gaT>gaG	p.D22E	MYCT1_ENST00000529453.1_Missense_Mutation_p.D22E	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	22						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TACAAAGAGATAGAATCAAAC	0.308																																																	0													73	77	75					6																	153019103		2187	4296	6483	SO:0001583	missense	0			AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.66T>G	6.37:g.153019103T>G	ENSP00000356214:p.Asp22Glu		Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	NULL	p.D22E	ENST00000367245.5	37	c.66	CCDS5239.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.265|2.265	-0.368429|-0.368429	0.05069|0.05069	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245;ENST00000529453|ENST00000532295	T|.	0.34859|.	1.34|.	5.49|5.49	3.11|3.11	0.35812|0.35812	.|.	1.427460|.	0.05000|.	N|.	0.468965|.	T|T	0.06325|0.06325	0.0163|0.0163	N|N	0.08118|0.08118	0|0	0.20074|0.20074	N|N	0.999935|0.999935	B|.	0.10296|.	0.003|.	B|.	0.13407|.	0.009|.	T|T	0.39702|0.39702	-0.9601|-0.9601	10|5	0.10902|.	T|.	0.67|.	.|.	7.8379|7.8379	0.29380|0.29380	0.0:0.2522:0.0:0.7478|0.0:0.2522:0.0:0.7478	.|.	22|.	Q8N699|.	MYCT1_HUMAN|.	E|R	22|3	ENSP00000356214:D22E|.	ENSP00000356214:D22E|.	D|I	+|+	3|2	2|0	MYCT1|MYCT1	153060796|153060796	0.113000|0.113000	0.22115|0.22115	0.991000|0.991000	0.47740|0.47740	0.813000|0.813000	0.45954|0.45954	0.774000|0.774000	0.26675|0.26675	0.392000|0.392000	0.25172|0.25172	0.528000|0.528000	0.53228|0.53228	GAT|ATA	MYCT1	-	NULL	ENSG00000120279		0.308	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCT1	HGNC	protein_coding	OTTHUMT00000042750.2		0	38	0	T	NM_025107		153019103	1			no_errors	ENST00000367245	ensembl	human	known	74_37	missense	8.00	44	4	SNP	0.956	G	G	153019103	T	G	153019103	3	3	128	1	0	0	0	0	1	0	0	0	10060	1403	49	4	68	4	MYCT1	6	153019103	Missense_Mutation	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09	20747554	153019103	18095964	38	32981											
FNDC1	84624	genome.wustl.edu	37	chr6	159653096	159653096	+	Frame_Shift_Del	DEL	G	G	-																															acaaaatattggctaatggtGgggcgccccgaaaaccccag																										TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:159653096delG	ENST00000297267.9	+	11	1752	c.1552delG	c.(1552-1554)gggfs	p.G518fs	FNDC1_ENST00000340366.6_Frame_Shift_Del_p.G455fs	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	518					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)		GGCTAATGGTGGGGCGCCCCG	0.562																																																	0													24	27	26					6																	159653096		1850	4102	5952	SO:0001589	frameshift_variant	0			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.1552delG	6.37:g.159653096delG	ENSP00000297267:p.Gly518fs		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A519fs	ENST00000297267.9	37	c.1552	CCDS47512.1	6																																																																																			FNDC1	-	NULL	ENSG00000164694		0.562	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3		0	56	0	G	NM_032532		159653096	1	tier1		no_errors	ENST00000297267	ensembl	human	known	74_37	frame_shift_del	58.49	22	31	DEL	0.005	-	-	159653096	G	-	159653096	7	5	128	1	0	1	0	1	0	0	0	0	5990	1348	47	0	1594	0	FNDC1	6	159653096	Frame_Shift_Del	DEL	G	TCGA-LN-A7HZ-01A-31D-A351-09	6633993	159653096	11461971	39	32982											
UNC93A	54346	genome.wustl.edu	37	chr6	167728900	167728901	+	Missense_Mutation	DNP	TC	TC	CG																															accccacgctccaggacaggTcaaccaggcagaggatgaag																										TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr6:167728900_167728901TC>CG	ENST00000230256.3	+	8	1509_1510	c.1334_1335TC>CG	c.(1333-1335)gTC>gCG	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)		CCAGGACAGGTCAACCAGGCAG	0.525																																																	1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	0			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	Exception_encountered	6.37:g.167728900_167728901delinsCG	ENSP00000230256:p.Val445Ala		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation|Silent	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.V445A|p.V445	ENST00000230256.3	37	c.1334|c.1335	CCDS5300.1	6																																																																																			UNC93A	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000112494		0.525	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2		0	91|89	0	T|C	NM_018974		167728900|167728901	1			no_errors	ENST00000230256	ensembl	human	known	74_37	missense|silent	14.29|13.33	78	13|12	SNP	0.000	C|G	CG	167728901	TC	CG	167728900	3	2	128	1	0	0	0	0	1	0	0	0	17045	1667	58	4	1364	4	UNC93A	6	167728900	Missense_Mutation	DNP	TC	TCGA-LN-A7HZ-01A-31D-A351-09	8075804	167728900	3386167	40	32983											
RSPH10B	728194	genome.wustl.edu	37	chr7	6803577	6803577	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	agggcgactttgtgaagaatGtcccgatgaaccacggcgtg	10	8	14	9	4	0	3	0	2	0	1	1	5	1	3	2	2	1	0	2	2	3	1			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:6803577G>C	ENST00000403107.1	+	5	805	c.418G>C	c.(418-420)Gtc>Ctc	p.V140L	RSPH10B2_ENST00000433859.2_Missense_Mutation_p.V140L|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.V140L|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.V140L|RSPH10B2_ENST00000463354.2_3'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	140										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TGTGAAGAATGTCCCGATGAA	0.602																																																	0													31	29	29					7																	6803577		2193	4268	6461	SO:0001583	missense	0				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.418G>C	7.37:g.6803577G>C	ENSP00000384766:p.Val140Leu		A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.V140L	ENST00000403107.1	37	c.418	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	G	2.909	-0.225802	0.06022	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	3.61	-2.29	0.06805	.	0.666605	0.14085	N	0.342443	T	0.19406	0.0466	N	0.16098	0.37	0.34203	D	0.673362	B	0.23249	0.082	B	0.21546	0.035	T	0.26916	-1.0089	10	0.10902	T	0.67	.	0.9673	0.01408	0.3576:0.1668:0.3127:0.1629	.	140	B2RC85	R10B2_HUMAN	L	140	ENSP00000384766:V140L;ENSP00000386102:V140L;ENSP00000297186:V140L;ENSP00000416710:V140L	ENSP00000297186:V140L	V	+	1	0	RSPH10B2	6770102	0.008000	0.16893	0.212000	0.23672	0.202000	0.24057	0.050000	0.14120	-0.644000	0.05465	-0.568000	0.04159	GTC	RSPH10B2	-	pfam_MORN,smart_MORN	ENSG00000169402		0.602	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	-	0	109	0	G	NM_001099697		6803577	1	tier1	-	no_errors	ENST00000297186	ensembl	human	known	74_37	missense	7.76	107	9	SNP	0.133	C	C	6803577	G	C	6803577	3	2	128	1	0	0	0	0	1	0	0	0	13748	1377	48	5	3121	5	RSPH10B	7	6803577	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09		6803577	152335086	41	32984											
MAGI2	9863	genome.wustl.edu	37	chr7	77762345	77762345	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccatgggactctgcttctCtgagctgggtgccgaggtgg	4	10	16	11	2	2	1	0	1	2	0	3	3	2	2	2	4	3	2	2	4	0	1			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:77762345C>G	ENST00000354212.4	-	18	3317	c.3064G>C	c.(3064-3066)Gag>Cag	p.E1022Q	MAGI2_ENST00000419488.1_Missense_Mutation_p.E1008Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.E1022Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1022	Pro-rich.				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)				CTCTGCTTCTCTGAGCTGGGT	0.617																																																	0													107	117	114					7																	77762345		2203	4300	6503	SO:0001583	missense	0			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.3064G>C	7.37:g.77762345C>G	ENSP00000346151:p.Glu1022Gln		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.E1022Q	ENST00000354212.4	37	c.3064	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017093	0.93404	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.12361	2.8;2.79;2.69	5.76	5.76	0.90799	.	0.000000	0.36854	U	0.002372	T	0.23806	0.0576	N	0.14661	0.345	0.80722	D	1	D;D;D	0.69078	0.976;0.995;0.997	P;D;D	0.75484	0.703;0.915;0.986	T	0.07271	-1.0781	10	0.41790	T	0.15	.	19.5547	0.95338	0.0:1.0:0.0:0.0	.	1022;1008;1022	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	Q	1008;1022;1022;1022	ENSP00000405766:E1008Q;ENSP00000346151:E1022Q;ENSP00000428389:E1022Q	ENSP00000346151:E1022Q	E	-	1	0	MAGI2	77600281	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	7.152000	0.77419	2.726000	0.93360	0.655000	0.94253	GAG	MAGI2	-	NULL	ENSG00000187391		0.617	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	-	0	45	0	C	NM_012301		77762345	-1	tier1	-	no_errors	ENST00000354212	ensembl	human	known	74_37	missense	40.98	36	25	SNP	1.000	G	G	77762345	C	G	77762345	3	3	128	1	0	0	0	0	1	0	0	0	9229	922	32	5	1323	5	MAGI2	7	77762345	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	70958768	77762345	81376318	42	32985											
MGAM	8972	genome.wustl.edu	37	chr7	141705417	141705417	+	Silent	SNP	T	T	C	0	1	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	ttgtttatcatcagtattgtTctaattgtgcttttagccaa	9	20	6	6	0	3	0	2	0	1	0	3	0	3	0	1	0	2	4	1	0	5	10			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:141705417T>C	ENST00000549489.2	+	2	182	c.87T>C	c.(85-87)gtT>gtC	p.V29V	MGAM_ENST00000475668.2_Silent_p.V29V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	29					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)	TCAGTATTGTTCTAATTGTGC	0.358																																																	0													110	104	106					7																	141705417		1855	4099	5954	SO:0001819	synonymous_variant	0			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.87T>C	7.37:g.141705417T>C			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.V29	ENST00000549489.2	37	c.87	CCDS47727.1	7																																																																																			MGAM	-	NULL	ENSG00000257335		0.358	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0	47	0	T			141705417	1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	silent	10.87	40	5	SNP	0.002	C	C	141705417	T	C	141705417	2	2	128	1	0	0	0	0	0	0	0	1	9579	1770	62	4		4	MGAM	7	141705417	Silent	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09	63943072	141705417	17433246	43	32986											
MLL3	58508	genome.wustl.edu	37	chr7	151947037	151947037	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagtgtggacttgaacCgctgtgagtaacacatttat	10	14	9	8	1	2	2	1	2	1	0	2	3	2	3	1	1	2	2	1	1	3	5			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr7:151947037C>T	ENST00000262189.6	-	13	1955	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	KMT2C_ENST00000355193.2_Splice_Site_p.A579A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	579				A -> T (in Ref. 1; AAK00583). {ECO:0000305}.	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)										GGACTTGAACCGCTGTGAGTA	0.363																																																	0													126	103	111					7																	151947037		2203	4299	6502	SO:0001630	splice_region_variant	0			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.1736-1G>A	7.37:g.151947037C>T			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A579	ENST00000262189.6	37	c.1737	CCDS5931.1	7																																																																																			KMT2C	-	NULL	ENSG00000055609		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	66	0	C		Silent	151947037	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	silent	26.25	59	21	SNP	0.000	T	T	151947037	C	T	151947037	5	4	128	1	0	0	0	0	0	0	1	0	9660	666	23	1	13186	1	MLL3	7	151947037	Splice_Site	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	10241620	151947037	7191626	44	32987											
PTPRD	5789	genome.wustl.edu	37	chr9	8518250	8518250	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagtagggacttagtccagCgacactgtagcgtgtggtcg	8	9	15	9	4	0	0	0	0	0	0	2	3	1	1	1	2	2	2	1	2	3	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr9:8518250C>A	ENST00000381196.4	-	18	1684	c.1141G>T	c.(1141-1143)Gct>Tct	p.A381S	PTPRD_ENST00000360074.4_Missense_Mutation_p.A368S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A368S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A381S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A381S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A378S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A371S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A378S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A381S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A381S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A371S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	381	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTAGTCCAGCGACACTGTAG	0.468										TSP Lung(15;0.13)																																							0													141	143	142					9																	8518250		2203	4300	6503	SO:0001583	missense	0			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.1141G>T	9.37:g.8518250C>A	ENSP00000370593:p.Ala381Ser		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.A381S	ENST00000381196.4	37	c.1141	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	3.906	-0.021096	0.07634	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055458	0.64402	D	0.000001	T	0.37972	0.1023	N	0.02120	-0.675	0.58432	D	0.999998	B;B;B;B;B;B;B;P;B	0.46912	0.386;0.102;0.044;0.073;0.005;0.084;0.382;0.886;0.436	B;B;B;B;B;B;B;P;B	0.50490	0.239;0.168;0.053;0.083;0.03;0.068;0.189;0.642;0.168	T	0.46884	-0.9159	9	.	.	.	.	18.6464	0.91411	0.0:1.0:0.0:0.0	.	371;375;381;381;378;378;368;381;381	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	381;381;368;368;381;371;378;378;381;381;381;371	ENSP00000370593:A381S;ENSP00000348812:A381S;ENSP00000353187:A368S;ENSP00000351293:A368S;ENSP00000347373:A381S;ENSP00000380741:A371S;ENSP00000380735:A378S;ENSP00000440515:A378S;ENSP00000438164:A381S;ENSP00000417093:A381S;ENSP00000380731:A371S	.	A	-	1	0	PTPRD	8508250	1.000000	0.71417	0.967000	0.41034	0.229000	0.25112	7.770000	0.85390	2.392000	0.81423	0.460000	0.39030	GCT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3		0	22	0	C			8518250	-1			no_errors	ENST00000356435	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	8518250	C	A	8518250	3	1	128	1	0	0	0	0	1	0	0	0	12844	768	27	2	4769	2	PTPRD	9	8518250	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09		8518250	132695181	45	32988											
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123199725	123199725	+	Missense_Mutation	SNP	A	A	G	1	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	tcatgtgttgacgggagatgAcacagatgccatggccatcc	10	9	12	10	1	1	4	1	2	0	2	2	5	2	4	3	2	1	1	3	2	0	1			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr9:123199725A>G	ENST00000349780.4	-	25	3982	c.3803T>C	c.(3802-3804)gTc>gCc	p.V1268A	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.V1227A|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.V1268A|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.V1236A	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1268					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						ACGGGAGATGACACAGATGCC	0.498																																																	0													170	142	152					9																	123199725		2203	4300	6503	SO:0001583	missense	0			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.3803T>C	9.37:g.123199725A>G	ENSP00000343818:p.Val1268Ala		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.V1268A	ENST00000349780.4	37	c.3803	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	A	14.61	2.586194	0.46110	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.24538	3.81;3.74;3.84;3.74;2.14;1.85	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000036	T	0.45357	0.1338	L	0.61036	1.89	0.28511	N	0.913535	B;P;P;D;P;P	0.76494	0.394;0.865;0.865;0.999;0.787;0.537	B;B;B;D;B;B	0.81914	0.132;0.421;0.421;0.995;0.241;0.391	T	0.44019	-0.9355	10	0.42905	T	0.14	.	10.6014	0.45369	0.8872:0.0:0.1128:0.0	.	278;1037;1236;1268;1268;662	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	A	1236;1227;1268;1268;662;278;1040	ENSP00000354065:V1236A;ENSP00000352258:V1227A;ENSP00000343818:V1268A;ENSP00000353317:V1268A;ENSP00000400395:V662A;ENSP00000409941:V278A	ENSP00000341695:V1040A	V	-	2	0	CDK5RAP2	122239546	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.470000	0.35354	2.367000	0.80283	0.528000	0.53228	GTC	CDK5RAP2	-	NULL	ENSG00000136861		0.498	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	-	0	81	0	A	NM_018249		123199725	-1	tier1	-	no_errors	ENST00000349780	ensembl	human	known	74_37	missense	13.64	133	21	SNP	1.000	G	G	123199725	A	G	123199725	3	3	128	1	0	0	0	0	1	0	0	0	3153	275	10	4	1934	4	CDK5RAP2	9	123199725	Missense_Mutation	SNP	A	TCGA-LN-A7HZ-01A-31D-A351-09	114681475	123199725	18013706	46	32989											
MBL2	4153	genome.wustl.edu	37	chr10	54531301	54531301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tacaggcaatcactgcagggCaggtcttttgggcatcctca	9	10	11	11	0	3	0	2	0	1	0	4	0	4	0	1	4	2	4	1	4	2	3	rs199957742		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:54531301C>A	ENST00000373968.3	-	1	159	c.95G>T	c.(94-96)tGc>tTc	p.C32F		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	32	Cys-rich.				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						CACTGCAGGGCAGGTCTTTTG	0.552																																																	0													122	111	115					10																	54531301		2203	4300	6503	SO:0001583	missense	0			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.95G>T	10.37:g.54531301C>A	ENSP00000363079:p.Cys32Phe		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.C32F	ENST00000373968.3	37	c.95	CCDS7247.1	10	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675913	0.29783	.	.	ENSG00000165471	ENST00000373968	T	0.73152	-0.72	4.54	3.64	0.41730	.	0.182863	0.39615	N	0.001303	T	0.70552	0.3237	N	0.19112	0.55	0.36667	D	0.878309	D	0.89917	1.0	D	0.91635	0.999	T	0.76280	-0.3017	10	0.87932	D	0	-9.5836	8.676	0.34179	0.0:0.8984:0.0:0.1016	.	32	P11226	MBL2_HUMAN	F	32	ENSP00000363079:C32F	ENSP00000363079:C32F	C	-	2	0	MBL2	54201307	0.723000	0.28027	0.821000	0.32701	0.011000	0.07611	2.042000	0.41222	1.511000	0.48818	0.655000	0.94253	TGC	MBL2	-	NULL	ENSG00000165471		0.552	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBL2	HGNC	protein_coding	OTTHUMT00000048115.1	-	0	34	0	C	NM_000242		54531301	-1	tier1	rs199957742	no_errors	ENST00000373968	ensembl	human	known	74_37	missense	36.17	30	17	SNP	0.908	A	A	54531301	C	A	54531301	3	1	128	1	0	0	0	0	1	0	0	0	9388	710	25	3	667	3	MBL2	10	54531301	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09		54531301	81003446	47	32990											
ZWINT	11130	genome.wustl.edu	37	chr10	58118341	58118341	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggacacaccagggtctctCcccatggtgtctcctgtact	8	10	9	14	0	2	0	0	0	2	0	5	1	3	1	4	3	1	1	4	3	2	1			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:58118341C>T	ENST00000373944.3	-	7	806	c.768G>A	c.(766-768)ggG>ggA	p.G256G	ZWINT_ENST00000361148.6_Silent_p.G209G|ZWINT_ENST00000318387.2_Silent_p.G136G|ZWINT_ENST00000395405.1_Silent_p.G256G|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	256					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CAGGGTCTCTCCCCATGGTGT	0.562																																																	0													114	107	109					10																	58118341		2203	4300	6503	SO:0001819	synonymous_variant	0			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.768G>A	10.37:g.58118341C>T			A6NNV6|Q0D2I3|Q9BWD0	Silent	SNP	NULL	p.G256	ENST00000373944.3	37	c.768	CCDS7249.1	10	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951278	0.53186	.	.	ENSG00000122952	ENST00000373940	.	.	.	4.16	-1.11	0.09840	.	.	.	.	.	T	0.35393	0.0930	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35649	-0.9780	5	0.42905	T	0.14	-19.7002	7.5193	0.27618	0.0:0.4379:0.0:0.5621	.	.	.	.	K	70	.	ENSP00000363051:E70K	E	-	1	0	ZWINT	57788347	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.245000	0.08890	-0.201000	0.10284	0.563000	0.77884	GAG	ZWINT	-	NULL	ENSG00000122952		0.562	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZWINT	HGNC	protein_coding	OTTHUMT00000048132.1	-	0	44	0	C			58118341	-1	tier1	-	no_errors	ENST00000373944	ensembl	human	known	74_37	silent	44.07	33	26	SNP	0.000	T	T	58118341	C	T	58118341	2	4	128	1	0	0	0	0	0	0	0	1	18297	842	30	3		3	ZWINT	10	58118341	Silent	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	3587040	58118341	77416406	48	32991											
VCL	7414	genome.wustl.edu	37	chr10	75873970	75873970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcattgcagcagccaagcGcatggctctgctgatggctg	8	9	12	12	1	2	1	1	1	1	0	2	1	2	1	1	2	5	6	1	2	1	1			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:75873970G>A	ENST00000211998.4	+	20	3072	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	VCL_ENST00000417648.2_Missense_Mutation_p.R186H|VCL_ENST00000372755.3_Missense_Mutation_p.R925H	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	993	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)					GCAGCCAAGCGCATGGCTCTG	0.562																																																	0													85	70	75					10																	75873970		2203	4300	6503	SO:0001583	missense	0			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.2978G>A	10.37:g.75873970G>A	ENSP00000211998:p.Arg993His		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.R993H	ENST00000211998.4	37	c.2978	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.460829	0.96240	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.28504	0.86	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.75484	0.982;0.986;0.936;0.976	T	0.45934	-0.9227	10	0.33940	T	0.23	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	186;852;925;993	B4DTM7;F5H7T3;P18206-2;P18206	.;.;.;VINC_HUMAN	H	925;993;186;900;852;665	ENSP00000361841:R925H;ENSP00000211998:R993H;ENSP00000411887:R186H;ENSP00000415489:R665H	ENSP00000211998:R993H	R	+	2	0	VCL	75543976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.835000	0.97688	0.650000	0.86243	CGC	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.562	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding			0	21	0	G	NM_003373, NM_014000		75873970	1			no_errors	ENST00000211998	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A	A	75873970	G	A	75873970	3	1	128	1	0	0	0	0	1	0	0	0	17188	1087	38	1	3056	1	VCL	10	75873970	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	17755629	75873970	59660777	49	32992											
OPN4	94233	genome.wustl.edu	37	chr10	88415912	88415912	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtttctctgtctctccgcagGcacctgggacttgggctgct	3	13	12	13	1	2	0	0	0	2	0	5	1	3	1	2	3	1	5	2	3	0	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:88415912G>A	ENST00000241891.5	+	2	312	c.145G>A	c.(145-147)Gca>Aca	p.A49T	OPN4_ENST00000372071.2_Splice_Site_p.A49T	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	49					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						CTCTCCGCAGGCACCTGGGAC	0.552																																																	0													101	91	95					10																	88415912		2203	4300	6503	SO:0001630	splice_region_variant	0			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.145-1G>A	10.37:g.88415912G>A			B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	p.A49T	ENST00000241891.5	37	c.145	CCDS7376.1	10	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708102	0.30322	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.66995	-0.2;0.16;-0.24	5.24	3.35	0.38373	.	1.674940	0.02942	N	0.140578	T	0.56963	0.2021	L	0.37561	1.115	0.25920	N	0.983123	B;B;B	0.16396	0.01;0.002;0.017	B;B;B	0.12156	0.003;0.002;0.007	T	0.38112	-0.9676	9	.	.	.	.	5.4753	0.16692	0.3155:0.0:0.6845:0.0	.	49;49;49	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	T	49	ENSP00000361141:A49T;ENSP00000241891:A49T;ENSP00000393132:A49T	.	A	+	1	0	OPN4	88405892	0.804000	0.28969	0.700000	0.30305	0.549000	0.35272	1.391000	0.34475	1.191000	0.43056	0.561000	0.74099	GCA	OPN4	-	NULL	ENSG00000122375		0.552	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	HGNC	protein_coding	OTTHUMT00000049158.2	-	0	77	0	G	NM_033282	Missense_Mutation	88415912	1	tier1	-	no_errors	ENST00000372071	ensembl	human	known	74_37	missense	41.11	53	37	SNP	0.779	A	A	88415912	G	A	88415912	5	1	128	1	0	0	0	0	0	0	1	0	10921	1217	42	3	151	3	OPN4	10	88415912	Splice_Site	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	12541942	88415912	47118835	50	32993											
VTI1A	143187	genome.wustl.edu	37	chr10	114220329	114220329	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggagaaacagcttgaagaAgcgaaagaactggtatgtac	16	7	13	5	1	0	4	0	1	0	3	0	6	0	4	0	2	5	3	0	2	7	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr10:114220329A>G	ENST00000393077.2	+	2	257	c.141A>G	c.(139-141)gaA>gaG	p.E47E	VTI1A_ENST00000432306.1_Silent_p.E47E	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	47					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)		AGCTTGAAGAAGCGAAAGAAC	0.333			T	TCF7L2	colorectal																																			Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	0													94	92	92					10																	114220329		2203	4300	6503	SO:0001819	synonymous_variant	0			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.141A>G	10.37:g.114220329A>G			A2A307|B4E137|Q5W0D7	Silent	SNP	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom	p.E47	ENST00000393077.2	37	c.141	CCDS7575.2	10																																																																																			VTI1A	-	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE	ENSG00000151532		0.333	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTI1A	HGNC	protein_coding	OTTHUMT00000050397.2	-	0	66	0	A			114220329	1	tier1	-	no_errors	ENST00000393077	ensembl	human	known	74_37	silent	16.85	74	15	SNP	1.000	G	G	114220329	A	G	114220329	2	3	128	1	0	0	0	0	0	0	0	1	17284	69	3	4		4	VTI1A	10	114220329	Silent	SNP	A	TCGA-LN-A7HZ-01A-31D-A351-09	25804417	114220329	21314418	51	32994											
NLRP14	338323	genome.wustl.edu	37	chr11	7060994	7060994	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaaggctggagagacacaAgaagatcaggaggcagtgct	14	4	15	8	0	1	3	1	0	0	3	1	6	1	5	1	4	1	3	1	4	3	0			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:7060994A>G	ENST00000299481.4	+	3	685	c.339A>G	c.(337-339)caA>caG	p.Q113Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	113					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)		GAGAGACACAAGAAGATCAGG	0.473																																																	0													196	192	193					11																	7060994		2201	4296	6497	SO:0001819	synonymous_variant	0			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.339A>G	11.37:g.7060994A>G			Q7RTR6	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q113	ENST00000299481.4	37	c.339	CCDS7776.1	11																																																																																			NLRP14	-	NULL	ENSG00000158077		0.473	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	-	0	47	0	A	NM_176822		7060994	1	tier1	-	no_errors	ENST00000299481	ensembl	human	known	74_37	silent	46.15	21	18	SNP	0.000	G	G	7060994	A	G	7060994	2	3	128	1	0	0	0	0	0	0	0	1	10515	69	3	4		4	NLRP14	11	7060994	Silent	SNP	A	TCGA-LN-A7HZ-01A-31D-A351-09		7060994	127945522	52	32995											
SOX6	55553	genome.wustl.edu	37	chr11	16071402	16071402	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgctggctgggaagaggttcTgggtgggagacgttggggac	6	9	21	5	1	1	2	0	0	1	2	1	5	1	4	0	7	1	4	0	7	1	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:16071402T>C	ENST00000352083.6	-	11	1411	c.1334A>G	c.(1333-1335)cAg>cGg	p.Q445R	SOX6_ENST00000528429.1_Missense_Mutation_p.Q445R|SOX6_ENST00000316399.6_Missense_Mutation_p.Q445R|SOX6_ENST00000527619.1_Missense_Mutation_p.Q407R|SOX6_ENST00000528252.1_Missense_Mutation_p.Q404R|SOX6_ENST00000396356.3_Missense_Mutation_p.Q445R			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	445					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|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)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAAGAGGTTCTGGGTGGGAGA	0.527																																																	0													235	240	238					11																	16071402		2200	4294	6494	SO:0001583	missense	0			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1334A>G	11.37:g.16071402T>C	ENSP00000339876:p.Gln445Arg		Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Q445R	ENST00000352083.6	37	c.1334		11	.	.	.	.	.	.	.	.	.	.	T	11.55	1.671606	0.29693	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.97791	-4.54;-4.53;-4.54;-4.51;-4.51;-4.53	6.02	4.88	0.63580	.	0.110121	0.64402	D	0.000004	D	0.95262	0.8463	L	0.50333	1.59	0.80722	D	1	P;B;P	0.42941	0.716;0.399;0.794	B;B;B	0.39840	0.311;0.147;0.31	D	0.93332	0.6702	10	0.12766	T	0.61	.	13.5123	0.61519	0.0:0.0:0.1303:0.8697	.	445;445;407	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	R	445;445;445;404;407;445	ENSP00000324948:Q445R;ENSP00000339876:Q445R;ENSP00000379644:Q445R;ENSP00000432134:Q404R;ENSP00000434455:Q407R;ENSP00000433233:Q445R	ENSP00000324948:Q445R	Q	-	2	0	SOX6	16027978	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.889000	0.56212	1.078000	0.41014	0.533000	0.62120	CAG	SOX6	-	NULL	ENSG00000110693		0.527	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	-	0	58	0	T	NM_033326		16071402	-1	tier1	-	no_errors	ENST00000352083	ensembl	human	known	74_37	missense	50.00	40	40	SNP	1.000	C	C	16071402	T	C	16071402	3	2	128	1	0	0	0	0	1	0	0	0	15000	1580	55	4	1218	4	SOX6	11	16071402	Missense_Mutation	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09	9010408	16071402	118935114	53	32996											
OR8I2	120586	genome.wustl.edu	37	chr11	55861518	55861518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcgcatcccacctcatGgctgtaactatcttttatgg	8	13	7	13	1	2	0	1	0	1	0	3	0	3	0	3	2	2	3	3	2	3	4			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:55861518G>T	ENST00000302124.2	+	1	766	c.735G>T	c.(733-735)atG>atT	p.M245I		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					CCCACCTCATGGCTGTAACTA	0.488																																																	0													146	138	141					11																	55861518		2201	4296	6497	SO:0001583	missense	0			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.735G>T	11.37:g.55861518G>T	ENSP00000303864:p.Met245Ile		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M245I	ENST00000302124.2	37	c.735	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234687	0.01505	.	.	ENSG00000172154	ENST00000302124	T	0.34472	1.36	4.33	-8.65	0.00870	GPCR, rhodopsin-like superfamily (1);	1.214100	0.06222	N	0.686969	T	0.09862	0.0242	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18777	-1.0326	10	0.21014	T	0.42	1.0735	2.8024	0.05418	0.2073:0.1683:0.4563:0.1681	.	245	Q8N0Y5	OR8I2_HUMAN	I	245	ENSP00000303864:M245I	ENSP00000303864:M245I	M	+	3	0	OR8I2	55618094	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.468000	0.00992	-2.409000	0.00572	-2.421000	0.00218	ATG	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172154		0.488	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding			0	36	0	G	NM_001003750		55861518	1			no_errors	ENST00000302124	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.000	T	T	55861518	G	T	55861518	3	4	128	1	0	0	0	0	1	0	0	0	11279	1348	47	3	737	3	OR8I2	11	55861518	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	39790116	55861518	79144998	54	32997											
PANX1	24145	genome.wustl.edu	37	chr11	93911580	93911580	+	Frame_Shift_Del	DEL	C	C	-																															ttgcgatcctcctgtacctgCccccgctgttctggcgtttc																										TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:93911580delC	ENST00000227638.3	+	3	752	c.367delC	c.(367-369)cccfs	p.P124fs	PANX1_ENST00000436171.2_Frame_Shift_Del_p.P124fs	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	124					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)	CCTGTACCTGCCCCCGCTGTT	0.463																																																	0													158	123	135					11																	93911580		2201	4298	6499	SO:0001589	frameshift_variant	0			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.367delC	11.37:g.93911580delC	ENSP00000227638:p.Pro124fs		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Frame_Shift_Del	DEL	pfam_Innexin,pfscan_Innexin	p.P124fs	ENST00000227638.3	37	c.367	CCDS8296.1	11																																																																																			PANX1	-	pfam_Innexin,pfscan_Innexin	ENSG00000110218		0.463	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANX1	HGNC	protein_coding	OTTHUMT00000396121.1		0	26	0	C	NM_015368		93911580	1	tier1		no_errors	ENST00000227638	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	1.000	-	-	93911580	C	-	93911580	7	5	128	1	0	1	0	1	0	0	0	0	11459	739	26	0	377	0	PANX1	11	93911580	Frame_Shift_Del	DEL	C	TCGA-LN-A7HZ-01A-31D-A351-09	38050062	93911580	41094936	55	32998											
DRD2	1813	genome.wustl.edu	37	chr11	113295289	113295289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtagtggggtctgtccgCcttcccgtctgacccgttga	3	13	13	12	3	2	2	0	2	2	0	4	2	4	2	4	2	0	3	4	2	1	4			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:113295289C>T	ENST00000362072.3	-	2	429	c.85G>A	c.(85-87)Gcg>Acg	p.A29T	DRD2_ENST00000542968.1_Missense_Mutation_p.A29T|DRD2_ENST00000355319.2_Missense_Mutation_p.A29T|DRD2_ENST00000538967.1_Missense_Mutation_p.A29T|DRD2_ENST00000544518.1_Missense_Mutation_p.A29T|DRD2_ENST00000346454.3_Missense_Mutation_p.A29T|DRD2_ENST00000535984.1_5'Flank	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	29					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)	GGTCTGTCCGCCTTCCCGTCT	0.587																																																	0													221	172	188					11																	113295289		2201	4296	6497	SO:0001583	missense	0			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.85G>A	11.37:g.113295289C>T	ENSP00000354859:p.Ala29Thr		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.A29T	ENST00000362072.3	37	c.85	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522393	0.27211	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.73	0.522	0.17053	.	0.861988	0.10405	N	0.678699	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.32693	-0.9897	10	0.11794	T	0.64	.	7.6127	0.28139	0.0:0.3877:0.4025:0.2098	.	29;29;29;29	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	T	29	ENSP00000347474:A29T;ENSP00000278597:A29T;ENSP00000354859:A29T;ENSP00000441068:A29T;ENSP00000442172:A29T;ENSP00000438215:A29T;ENSP00000438419:A29T	ENSP00000278597:A29T	A	-	1	0	DRD2	112800499	0.002000	0.14202	0.018000	0.16275	0.882000	0.50991	1.276000	0.33156	0.066000	0.16515	0.561000	0.74099	GCG	DRD2	-	NULL	ENSG00000149295		0.587	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	-	0	57	0	C	NM_000795		113295289	-1	tier1	-	no_errors	ENST00000355319	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.000	T	T	113295289	C	T	113295289	3	4	128	1	0	0	0	0	1	0	0	0	4771	739	26	3	1274	3	DRD2	11	113295289	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	19383709	113295289	21711227	56	32999											
NNMT	4837	genome.wustl.edu	37	chr11	114168879	114168879	+	Splice_Site	SNP	A	A	G	1	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	tgtgtgatcttgaagggaacAggtagagaaactggtgtcta	12	11	14	4	0	2	3	0	2	2	1	2	5	2	4	0	3	2	1	0	3	5	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr11:114168879A>G	ENST00000535401.1	+	4	625	c.361A>G	c.(361-363)Aga>Gga	p.R121G	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Splice_Site_p.R121G|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000542647.1_Intron			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	121					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TGAAGGGAACAGGTAGAGAAA	0.488																																																	0													95	93	94					11																	114168879		2201	4296	6497	SO:0001630	splice_region_variant	0			U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.362+1A>G	11.37:g.114168879A>G				Missense_Mutation	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.R121G	ENST00000535401.1	37	c.361	CCDS8368.1	11	.	.	.	.	.	.	.	.	.	.	A	8.735	0.917499	0.17982	.	.	ENSG00000166741	ENST00000535401;ENST00000299964	T;T	0.03386	3.95;3.95	5.11	2.75	0.32379	.	0.185240	0.36034	U	0.002838	T	0.03263	0.0095	L	0.29908	0.895	0.80722	D	1	B	0.26809	0.16	B	0.31191	0.125	T	0.52548	-0.8561	10	0.23891	T	0.37	-12.3219	8.1714	0.31258	0.8273:0.0:0.1727:0.0	.	121	P40261	NNMT_HUMAN	G	121	ENSP00000441434:R121G;ENSP00000299964:R121G	ENSP00000299964:R121G	R	+	1	2	NNMT	113674089	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.957000	0.49137	0.799000	0.34018	0.455000	0.32223	AGA	NNMT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	ENSG00000166741		0.488	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNMT	HGNC	protein_coding	OTTHUMT00000398951.1		0	65	0	A	NM_006169	Missense_Mutation	114168879	1			no_errors	ENST00000299964	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	G	G	114168879	A	G	114168879	5	3	128	1	0	0	0	0	0	0	1	0	10548	202	7	4	367	4	NNMT	11	114168879	Splice_Site	SNP	A	TCGA-LN-A7HZ-01A-31D-A351-09	873590	114168879	20837637	57	33000											
VWF	7450	genome.wustl.edu	37	chr12	6103140	6103140	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaactgtcctgctggcaGatggcatagaatgtggctgg	8	10	15	8	0	0	2	0	0	0	2	1	2	1	2	1	5	2	5	1	5	3	1			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:6103140G>T	ENST00000261405.5	-	37	6740	c.6486C>A	c.(6484-6486)atC>atA	p.I2162I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2162					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)	CCTGCTGGCAGATGGCATAGA	0.582																																																	0													85	70	75					12																	6103140		2203	4300	6503	SO:0001819	synonymous_variant	0				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.6486C>A	12.37:g.6103140G>T			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.I2162	ENST00000261405.5	37	c.6486	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000110799		0.582	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1		0	28	0	G	NM_000552		6103140	-1			no_errors	ENST00000261405	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.915	T	T	6103140	G	T	6103140	2	4	128	1	0	0	0	0	0	0	0	1	17295	932	33	3		3	VWF	12	6103140	Silent	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09		6103140	127748755	58	33001											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43833503	43833503	+	De_novo_Start_OutOfFrame	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcctctcttccaaagggaTattgaaggaataatgtacat	14	12	7	8	0	1	1	0	1	1	0	4	3	3	3	2	2	1	1	2	2	6	5			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:43833503T>C	ENST00000395541.2	-	0	12				ADAMTS20_ENST00000389420.3_Missense_Mutation_p.I839V|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I839V			P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20						extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCAAAGGGATATTGAAGGAA	0.378																																																	0													90	79	83					12																	43833503		2203	4300	6503			0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000395541.2:c.-24A>G	12.37:g.43833503T>C			A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.I839V	ENST00000395541.2	37	c.2515		12	.	.	.	.	.	.	.	.	.	.	T	3.611	-0.079531	0.07141	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000553158;ENST00000389417	T;T;T	0.62105	0.7;0.05;0.7	5.25	4.1	0.47936	ADAM-TS Spacer 1 (1);	0.000000	0.52532	D	0.000077	T	0.52996	0.1769	L	0.50993	1.605	0.80722	D	1	B	0.16603	0.018	B	0.20184	0.028	T	0.45205	-0.9277	10	0.21540	T	0.41	.	10.2792	0.43530	0.0:0.1404:0.0:0.8596	.	839	P59510	ATS20_HUMAN	V	839;5;839;839	ENSP00000374071:I839V;ENSP00000447427:I5V;ENSP00000448341:I839V	ENSP00000374068:I839V	I	-	1	0	ADAMTS20	42119770	1.000000	0.71417	0.998000	0.56505	0.041000	0.13682	2.636000	0.46545	1.087000	0.41251	-0.256000	0.11100	ATC	ADAMTS20	-	pfam_ADAM_spacer1	ENSG00000173157		0.378	ADAMTS20-201	KNOWN	basic	protein_coding	ADAMTS20	HGNC	protein_coding		-	0	28	0	T	NM_025003		43833503	-1	tier1	-	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	C	C	43833503	T	C	43833503	1	2	128	1	0	1	0	0	0	0	0	0	266	1406	49	4		4	ADAMTS20	12	43833503	De_novo_Start_OutOfFrame	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09	37730363	43833503	90018392	59	33002											
MLL2	8085	genome.wustl.edu	37	chr12	49435700	49435700	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctcctttctgcctcacCaggtagggggctttgtcagc	5	12	11	13	0	3	0	2	0	1	0	4	0	4	0	3	3	3	3	3	3	1	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:49435700C>T	ENST00000301067.7	-	29	6182	c.6183G>A	c.(6181-6183)ctG>ctA	p.L2061L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2061					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)										TCTGCCTCACCAGGTAGGGGG	0.527																																																	0													50	54	52					12																	49435700		1962	4166	6128	SO:0001630	splice_region_variant	0			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.6183+1G>A	12.37:g.49435700C>T			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L2061	ENST00000301067.7	37	c.6183	CCDS44873.1	12																																																																																			KMT2D	-	superfamily_HMG_box_dom,smart_HMG_box_dom	ENSG00000167548		0.527	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	56	0	C		Silent	49435700	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	silent	44.23	28	23	SNP	1.000	T	T	49435700	C	T	49435700	5	4	128	1	0	0	0	0	0	0	1	0	9659	608	21	3	10534	3	MLL2	12	49435700	Splice_Site	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	5602197	49435700	84416195	60	33003											
DAZAP2	9802	genome.wustl.edu	37	chr12	51634874	51634874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaggtgccagatttggaGctggggctactgctggcaac	8	9	15	9	0	0	1	0	0	0	1	0	2	0	2	1	5	6	5	1	5	2	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:51634874G>A	ENST00000412716.3	+	3	968	c.352G>A	c.(352-354)Gct>Act	p.A118T	DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Intron|DAZAP2_ENST00000549555.1_Intron|DAZAP2_ENST00000604900.1_Missense_Mutation_p.A118T|DAZAP2_ENST00000549732.2_Missense_Mutation_p.A86T|DAZAP2_ENST00000551313.1_Missense_Mutation_p.A58T|DAZAP2_ENST00000449723.3_Missense_Mutation_p.A96T|DAZAP2_ENST00000425012.2_Missense_Mutation_p.A118T			Q15038	DAZP2_HUMAN	DAZ associated protein 2	118	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CAGATTTGGAGCTGGGGCTAC	0.473																																																	0													88	80	83					12																	51634874		2203	4300	6503	SO:0001583	missense	0			D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.352G>A	12.37:g.51634874G>A	ENSP00000394699:p.Ala118Thr		A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	pfam_DAZ_assoc-2	p.A118T	ENST00000412716.3	37	c.352	CCDS8809.1	12	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609034	0.87258	.	.	ENSG00000183283	ENST00000412716;ENST00000425012;ENST00000549732;ENST00000449723;ENST00000551313	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.13	4.13	0.48395	.	0.118043	0.56097	D	0.000032	T	0.50205	0.1602	L	0.29908	0.895	0.36705	D	0.880318	P;D;D	0.69078	0.951;0.991;0.997	P;D;D	0.77004	0.731;0.945;0.989	T	0.49000	-0.8984	10	0.21540	T	0.41	.	16.3716	0.83364	0.0:0.0:1.0:0.0	.	118;86;118	B4DDT5;C9JP84;Q15038	.;.;DAZP2_HUMAN	T	118;118;86;96;58	ENSP00000394699:A118T;ENSP00000408251:A118T;ENSP00000446554:A86T;ENSP00000412812:A96T;ENSP00000447842:A58T	ENSP00000394699:A118T	A	+	1	0	DAZAP2	49921141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.472000	0.60189	2.589000	0.87451	0.655000	0.94253	GCT	DAZAP2	-	pfam_DAZ_assoc-2	ENSG00000183283		0.473	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP2	HGNC	protein_coding	OTTHUMT00000405259.2	-	0	76	0	G	NM_014764		51634874	1	tier1	-	no_errors	ENST00000412716	ensembl	human	known	74_37	missense	15.32	94	17	SNP	1.000	A	A	51634874	G	A	51634874	3	1	128	1	0	0	0	0	1	0	0	0	4254	971	34	3	362	3	DAZAP2	12	51634874	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	2199174	51634874	82217021	61	33004											
MDM1	56890	genome.wustl.edu	37	chr12	68720467	68720467	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattttctgaaagaaccttGgtagaatgttccagttccac	12	13	7	9	0	1	3	0	1	1	2	3	3	3	3	3	1	1	3	3	1	4	6			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:68720467G>T	ENST00000303145.7	-	3	554	c.468C>A	c.(466-468)acC>acA	p.T156T	MDM1_ENST00000430606.2_Silent_p.T156T|MDM1_ENST00000411698.2_Silent_p.T156T|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000393543.3_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	156					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)		AAAGAACCTTGGTAGAATGTT	0.378																																																	0													92	90	91					12																	68720467		2203	4300	6503	SO:0001819	synonymous_variant	0			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.468C>A	12.37:g.68720467G>T			B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	NULL	p.T156	ENST00000303145.7	37	c.468	CCDS8983.1	12																																																																																			MDM1	-	NULL	ENSG00000111554		0.378	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	-	0	38	0	G	NM_020128		68720467	-1	tier1	-	no_errors	ENST00000303145	ensembl	human	known	74_37	silent	32.69	35	17	SNP	0.003	T	T	68720467	G	T	68720467	2	4	128	1	0	0	0	0	0	0	0	1	9450	1335	47	3		3	MDM1	12	68720467	Silent	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	17085593	68720467	65131428	62	33005											
ACACB	32	genome.wustl.edu	37	chr12	109670566	109670566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccccactgtgccagcGcatgggagccatggtagcct	6	9	11	15	1	1	0	0	0	1	0	2	1	1	1	5	2	4	2	5	2	1	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:109670566G>A	ENST00000338432.7	+	29	4213	c.4094G>A	c.(4093-4095)cGc>cAc	p.R1365H	ACACB_ENST00000543201.1_Missense_Mutation_p.R31H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1295H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1365H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1365					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)	CTGTGCCAGCGCATGGGAGCC	0.607																																																	0													86	75	79					12																	109670566		2203	4300	6503	SO:0001583	missense	0			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.4094G>A	12.37:g.109670566G>A	ENSP00000341044:p.Arg1365His		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R1365H	ENST00000338432.7	37	c.4094	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.234337	0.95207	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.93	4.93	0.64822	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77005	-0.2748	10	0.87932	D	0	.	19.0356	0.92976	0.0:0.0:1.0:0.0	.	1365	O00763	ACACB_HUMAN	H	1365;1365;1295;596;31	ENSP00000341044:R1365H;ENSP00000367079:R1365H;ENSP00000367085:R1295H;ENSP00000444075:R31H	ENSP00000341044:R1365H	R	+	2	0	ACACB	108154949	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.792000	0.99085	2.655000	0.90218	0.655000	0.94253	CGC	ACACB	-	pfam_AcCoA_COase_cen	ENSG00000076555		0.607	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0	41	0	G	NM_001093		109670566	1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	16.92	53	11	SNP	1.000	A	A	109670566	G	A	109670566	3	1	128	1	0	0	0	0	1	0	0	0	107	1087	38	1	4204	1	ACACB	12	109670566	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	40950099	109670566	24181329	63	33006											
TPCN1	53373	genome.wustl.edu	37	chr12	113717958	113717958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcttttcttcaaataggtAttaatatccttgtgaagtcc	10	18	6	7	0	3	1	1	1	2	0	5	1	5	1	2	1	0	1	2	1	6	8			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr12:113717958A>G	ENST00000335509.6	+	15	1614	c.1300A>G	c.(1300-1302)Att>Gtt	p.I434V	TPCN1_ENST00000392569.4_Missense_Mutation_p.I366V|TPCN1_ENST00000541517.1_Missense_Mutation_p.I506V|TPCN1_ENST00000550785.1_Missense_Mutation_p.I506V	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	434					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						TCAAATAGGTATTAATATCCT	0.388																																																	0													94	90	92					12																	113717958		2203	4300	6503	SO:0001583	missense	0			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.1300A>G	12.37:g.113717958A>G	ENSP00000335300:p.Ile434Val		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.I506V	ENST00000335509.6	37	c.1516	CCDS31908.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.79|11.79	1.744631|1.744631	0.30865|0.30865	.|.	.|.	ENSG00000186815|ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569|ENST00000546781	D;D;D;D|.	0.96967|.	-4.07;-4.19;-4.19;-4.13|.	5.02|5.02	3.88|3.88	0.44766|0.44766	.|.	0.109377|.	0.64402|.	N|.	0.000009|.	T|T	0.41926|0.41926	0.1180|0.1180	N|N	0.25647|0.25647	0.755|0.755	0.42659|0.42659	D|D	0.993479|0.993479	B;B;B|.	0.17465|.	0.001;0.022;0.016|.	B;B;B|.	0.14023|.	0.001;0.007;0.01|.	T|T	0.18903|0.18903	-1.0322|-1.0322	10|5	0.06625|.	T|.	0.88|.	-13.2733|-13.2733	7.8888|7.8888	0.29665|0.29665	0.8388:0.0:0.1612:0.0|0.8388:0.0:0.1612:0.0	.|.	434;506;434|.	A5PKY2;Q9ULQ1-3;Q9ULQ1|.	.;.;TPC1_HUMAN|.	V|C	434;506;506;366|120	ENSP00000335300:I434V;ENSP00000448083:I506V;ENSP00000438125:I506V;ENSP00000376350:I366V|.	ENSP00000335300:I434V|.	I|Y	+|+	1|2	0|0	TPCN1|TPCN1	112202341|112202341	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.902000|0.902000	0.53008|0.53008	3.761000|3.761000	0.55242|0.55242	0.938000|0.938000	0.37419|0.37419	0.533000|0.533000	0.62120|0.62120	ATT|TAT	TPCN1	-	NULL	ENSG00000186815		0.388	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	HGNC	protein_coding	OTTHUMT00000405156.3	-	0	46	0	A	NM_017901		113717958	1	tier1	-	no_errors	ENST00000541517	ensembl	human	known	74_37	missense	40.00	27	18	SNP	1.000	G	G	113717958	A	G	113717958	3	3	128	1	0	0	0	0	1	0	0	0	16443	449	16	4	1574	4	TPCN1	12	113717958	Missense_Mutation	SNP	A	TCGA-LN-A7HZ-01A-31D-A351-09	4047392	113717958	20133937	64	33007											
INTS6	26512	genome.wustl.edu	37	chr13	51948408	51948408	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgtaggtgcaggtggtccTtttcccccaatatgattgtt	6	16	11	8	0	0	1	0	1	0	0	2	1	2	1	3	3	1	4	3	3	3	7			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr13:51948408T>C	ENST00000311234.4	-	15	2512	c.2040A>G	c.(2038-2040)aaA>aaG	p.K680K	INTS6_ENST00000490542.1_Silent_p.K364K|INTS6_ENST00000425000.1_Silent_p.K248K|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Silent_p.K502K|INTS6_ENST00000398119.2_Silent_p.K667K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	680					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)		CAGGTGGTCCTTTTCCCCCAA	0.398																																																	0													188	175	179					13																	51948408		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2040A>G	13.37:g.51948408T>C			Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Silent	SNP	pfam_VWF_A,pfscan_VWF_A	p.K680	ENST00000311234.4	37	c.2040	CCDS9428.1	13																																																																																			INTS6	-	NULL	ENSG00000102786		0.398	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1		0	52	0	T	NM_012141		51948408	-1			no_errors	ENST00000311234	ensembl	human	known	74_37	silent	7.69	34	3	SNP	1.000	C	C	51948408	T	C	51948408	2	2	128	1	0	0	0	0	0	0	0	1	7809	1606	56	4		4	INTS6	13	51948408	Silent	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09		51948408	63221470	65	33008											
UBAC2	337867	genome.wustl.edu	37	chr13	99890703	99890703	+	Frame_Shift_Del	DEL	C	C	-																															aaggcgcctctgtcgaagagCcttctgctggtccccagtgc																										TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr13:99890703delC	ENST00000403766.3	+	2	189	c.54delC	c.(52-54)agcfs	p.S18fs	UBAC2_ENST00000376440.2_Frame_Shift_Del_p.A60fs	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	18					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTCGAAGAGCCTTCTGCTGG	0.507																																																	0													217	222	220					13																	99890703		2203	4300	6503	SO:0001589	frameshift_variant	0			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"phosphoglycerate dehydrogenase like 1"	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.54delC	13.37:g.99890703delC	ENSP00000383911:p.Ser18fs		B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Frame_Shift_Del	DEL	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.F61fs	ENST00000403766.3	37	c.179	CCDS45064.1	13																																																																																			UBAC2	-	NULL	ENSG00000134882		0.507	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	UBAC2	HGNC	protein_coding	OTTHUMT00000045588.1		0	53	0	C	NM_177967		99890703	1	tier1		no_errors	ENST00000376440	ensembl	human	known	74_37	frame_shift_del	24.53	40	13	DEL	1.000	-	-	99890703	C	-	99890703	7	5	128	1	0	1	0	1	0	0	0	0	16884	739	26	0	220	0	UBAC2	13	99890703	Frame_Shift_Del	DEL	C	TCGA-LN-A7HZ-01A-31D-A351-09	47942295	99890703	15279175	66	33009											
EDDM3B	64184	genome.wustl.edu	37	chr14	21238744	21238744	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaaagatggtagaacctatCggcaactagaaagtctatgc	15	9	9	8	1	1	3	0	0	1	3	2	3	1	3	1	2	3	2	1	2	9	5			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:21238744C>T	ENST00000326783.3	+	2	533	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	145						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TAGAACCTATCGGCAACTAGA	0.448																																																	0													72	61	65					14																	21238744		2203	4300	6503	SO:0001819	synonymous_variant	0			X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"family with sequence similarity 12, member B (epididymal)"	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.435C>T	14.37:g.21238744C>T			A0PK89	Silent	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain	p.I145	ENST00000326783.3	37	c.435	CCDS9557.1	14																																																																																			EDDM3B	-	NULL	ENSG00000181552		0.448	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDDM3B	HGNC	protein_coding	OTTHUMT00000073745.2		0	25	0	C			21238744	1			no_errors	ENST00000326783	ensembl	human	known	74_37	silent	8.62	53	5	SNP	0.001	T	T	21238744	C	T	21238744	2	4	128	1	0	0	0	0	0	0	0	1	4924	874	31	1		1	EDDM3B	14	21238744	Silent	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09		21238744	86110796	67	33010											
OR10G2	26534	genome.wustl.edu	37	chr14	22102245	22102245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gacatagtagactgtgaccaCgattaggtgggagccacagg	12	7	14	8	1	0	2	0	1	0	1	0	5	0	3	2	3	1	1	2	3	3	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:22102245C>T	ENST00000542433.1	-	1	851	c.754G>A	c.(754-756)Gtg>Atg	p.V252M		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		ACTGTGACCACGATTAGGTGG	0.547																																																	0													27	29	29					14																	22102245		2201	4297	6498	SO:0001583	missense	0				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.754G>A	14.37:g.22102245C>T	ENSP00000445383:p.Val252Met		B2RPD0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V252M	ENST00000542433.1	37	c.754	CCDS32047.1	14	.	.	.	.	.	.	.	.	.	.	C	7.184	0.590145	0.13812	.	.	ENSG00000255582	ENST00000542433	T	0.00277	8.34	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002428	T	0.00328	0.0010	M	0.89414	3.03	0.27035	N	0.964144	P	0.46064	0.872	B	0.36134	0.218	T	0.38134	-0.9675	10	0.66056	D	0.02	-11.8582	13.4661	0.61254	0.0:1.0:0.0:0.0	.	252	Q8NGC3	O10G2_HUMAN	M	252	ENSP00000445383:V252M	ENSP00000445383:V252M	V	-	1	0	OR10G2	21172085	0.006000	0.16342	0.894000	0.35097	0.034000	0.12701	0.953000	0.29162	2.027000	0.59764	0.557000	0.71058	GTG	OR10G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000255582		0.547	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G2	HGNC	protein_coding	OTTHUMT00000401525.1	-	0	54	0	C			22102245	-1	tier1	-	no_errors	ENST00000542433	ensembl	human	known	74_37	missense	6.31	104	7	SNP	0.880	T	T	22102245	C	T	22102245	3	4	128	1	0	0	0	0	1	0	0	0	10938	536	19	1	181	1	OR10G2	14	22102245	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	863501	22102245	85247295	68	33011											
DDHD1	80821	genome.wustl.edu	37	chr14	53570521	53570521	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	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	ttcttcctcttctagaggctGccaagtgccgtcaataaacc	9	12	7	13	1	4	1	1	0	3	1	5	1	5	1	4	1	3	1	4	1	5	5			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:53570521G>A	ENST00000323669.5	-	2	891	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	DDHD1_ENST00000395606.1_Nonsense_Mutation_p.Q298*|DDHD1_ENST00000357758.3_Nonsense_Mutation_p.Q298*	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	298					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)					TCTAGAGGCTGCCAAGTGCCG	0.368																																																	0													74	68	70					14																	53570521		2203	4300	6503	SO:0001587	stop_gained	0			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.892C>T	14.37:g.53570521G>A	ENSP00000327104:p.Gln298*		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Nonsense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.Q298*	ENST00000323669.5	37	c.892	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.760772	0.96906	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610;ENST00000556910	.	.	.	5.26	5.26	0.73747	.	0.063178	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-14.8488	19.2282	0.93825	0.0:0.0:1.0:0.0	.	.	.	.	X	298;298;298;169;12	.	ENSP00000327104:Q298X	Q	-	1	0	DDHD1	52640271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.257000	0.58816	2.621000	0.88768	0.591000	0.81541	CAG	DDHD1	-	NULL	ENSG00000100523		0.368	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1		0	72	0	G			53570521	-1			no_errors	ENST00000323669	ensembl	human	known	74_37	nonsense	5.56	102	6	SNP	1.000	A	A	53570521	G	A	53570521	4	1	128	1	0	0	0	0	0	1	0	0	4335	1328	46	3	1883	3	DDHD1	14	53570521	Nonsense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	31468276	53570521	53779019	69	33012											
FBXO34	55030	genome.wustl.edu	37	chr14	55819192	55819192	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctgcctgccacagctttaAtcgggcaatccataagaaag	12	9	8	12	1	0	1	0	0	0	1	3	1	2	1	4	1	3	2	4	1	4	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:55819192A>T	ENST00000313833.4	+	2	2329	c.2084A>T	c.(2083-2085)aAt>aTt	p.N695I	FBXO34_ENST00000440021.1_Missense_Mutation_p.N695I	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	695										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CACAGCTTTAATCGGGCAATC	0.493																																																	0													36	37	37					14																	55819192		2203	4300	6503	SO:0001583	missense	0			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.2084A>T	14.37:g.55819192A>T	ENSP00000313159:p.Asn695Ile		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom,pfscan_F-box_dom	p.N695I	ENST00000313833.4	37	c.2084	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	A	11.63	1.697432	0.30142	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.23147	1.92;1.92	6.17	3.7	0.42460	.	0.388472	0.24312	N	0.039623	T	0.45013	0.1321	M	0.71581	2.175	0.58432	D	0.999991	D	0.76494	0.999	D	0.70016	0.967	T	0.39099	-0.9630	10	0.62326	D	0.03	.	9.0386	0.36302	0.7992:0.1287:0.0721:0.0	.	695	Q9NWN3	FBX34_HUMAN	I	695	ENSP00000313159:N695I;ENSP00000394117:N695I	ENSP00000313159:N695I	N	+	2	0	FBXO34	54888945	1.000000	0.71417	0.968000	0.41197	0.013000	0.08279	5.085000	0.64468	2.371000	0.80710	0.533000	0.62120	AAT	FBXO34	-	NULL	ENSG00000178974		0.493	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	-	0	45	0	A			55819192	1	tier1	-	no_errors	ENST00000313833	ensembl	human	known	74_37	missense	32.31	44	21	SNP	0.944	T	T	55819192	A	T	55819192	3	4	128	1	0	0	0	0	1	0	0	0	5766	101	4	5	2086	5	FBXO34	14	55819192	Missense_Mutation	SNP	A	TCGA-LN-A7HZ-01A-31D-A351-09	2248671	55819192	51530348	70	33013											
HIF1A	3091	genome.wustl.edu	37	chr14	62188256	62188256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattgaagatgacatgaaaGcacagatgaattgcttttat	16	13	8	4	0	0	6	0	4	0	2	0	6	0	6	0	0	2	2	0	0	5	5			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:62188256G>A	ENST00000337138.4	+	3	521	c.256G>A	c.(256-258)Gca>Aca	p.A86T	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.A86T|HIF1A_ENST00000539097.1_Missense_Mutation_p.A110T|HIF1A_ENST00000394997.1_Missense_Mutation_p.A87T|HIF1A_ENST00000557538.1_Missense_Mutation_p.A27T|HIF1A_ENST00000557206.1_3'UTR	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	86	Interaction with TSGA10. {ECO:0000250}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)	TGACATGAAAGCACAGATGAA	0.299																																																	0													147	149	148					14																	62188256		2203	4299	6502	SO:0001583	missense	0			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.256G>A	14.37:g.62188256G>A	ENSP00000338018:p.Ala86Thr		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.A110T	ENST00000337138.4	37	c.328	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	9.949	1.219674	0.22373	.	.	ENSG00000100644	ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.52983	0.74;0.74;0.64;0.76;0.74	5.84	5.84	0.93424	.	0.499082	0.23153	N	0.051338	T	0.23532	0.0569	N	0.04508	-0.205	0.24644	N	0.993557	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.10450	0.005;0.005;0.005	T	0.09292	-1.0681	10	0.25751	T	0.34	.	7.6611	0.28404	0.1928:0.0:0.8072:0.0	.	87;86;86	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	T	27;86;87;86;27;110	ENSP00000338018:A86T;ENSP00000378446:A87T;ENSP00000323326:A86T;ENSP00000451696:A27T;ENSP00000437955:A110T	ENSP00000323326:A86T	A	+	1	0	HIF1A	61258009	0.861000	0.29849	1.000000	0.80357	0.912000	0.54170	1.757000	0.38400	2.765000	0.95021	0.484000	0.47621	GCA	HIF1A	-	NULL	ENSG00000100644		0.299	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	-	0	48	0	G	NM_001530		62188256	1	tier1	-	no_errors	ENST00000539097	ensembl	human	known	74_37	missense	6.80	96	7	SNP	0.520	A	A	62188256	G	A	62188256	3	1	128	1	0	0	0	0	1	0	0	0	7130	971	34	3	266	3	HIF1A	14	62188256	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	6369064	62188256	45161284	71	33014											
ZFYVE1	53349	genome.wustl.edu	37	chr14	73442338	73442338	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacagccttggtgggtccaAggctaagctcggacaccgac	9	7	12	13	2	1	0	1	0	0	0	3	2	2	1	3	4	2	2	3	4	2	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:73442338A>G	ENST00000556143.1	-	9	2447	c.1727T>C	c.(1726-1728)cTt>cCt	p.L576P	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.L562P|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.L161P|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.L576P|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.L161P	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	576					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)		GGTGGGTCCAAGGCTAAGCTC	0.567																																																	0													127	104	112					14																	73442338		2203	4300	6503	SO:0001583	missense	0			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.1727T>C	14.37:g.73442338A>G	ENSP00000450742:p.Leu576Pro		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L576P	ENST00000556143.1	37	c.1727	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	A	17.47	3.396778	0.62177	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	6.17	6.17	0.99709	Zinc finger, FYVE/PHD-type (1);	0.182212	0.49305	D	0.000147	T	0.72574	0.3477	N	0.24115	0.695	0.80722	D	1	D;P	0.57571	0.98;0.475	P;B	0.47705	0.555;0.087	T	0.73895	-0.3838	10	0.40728	T	0.16	-13.6339	16.8222	0.85835	1.0:0.0:0.0:0.0	.	576;576	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	P	576;562;576;161;161	ENSP00000452442:L576P;ENSP00000326921:L562P;ENSP00000450742:L576P;ENSP00000377757:L161P;ENSP00000452232:L161P	ENSP00000326921:L576P	L	-	2	0	ZFYVE1	72512091	1.000000	0.71417	0.966000	0.40874	0.974000	0.67602	7.576000	0.82467	2.371000	0.80710	0.533000	0.62120	CTT	ZFYVE1	-	superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt_N_dom	ENSG00000165861		0.567	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	-	0	50	0	A	NM_021260		73442338	-1	tier1	-	no_errors	ENST00000553891	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.998	G	G	73442338	A	G	73442338	3	3	128	1	0	0	0	0	1	0	0	0	17711	72	3	4	622	4	ZFYVE1	14	73442338	Missense_Mutation	SNP	A	TCGA-LN-A7HZ-01A-31D-A351-09	11254082	73442338	33907202	72	33015											
PLD4	122618	genome.wustl.edu	37	chr14	105398216	105398216	+	Frame_Shift_Del	DEL	C	C	-																															cccaccacgcgcttcagccaCcccccgaggtaggtctgagt																										TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr14:105398216delC	ENST00000392593.4	+	8	1218	c.1050delC	c.(1048-1050)cacfs	p.H350fs	PLD4_ENST00000553861.1_5'Flank|PLD4_ENST00000540372.1_Frame_Shift_Del_p.H357fs	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	350					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)			GCTTCAGCCACCCCCCGAGGT	0.687																																																	0													14	17	16					14																	105398216		1976	4126	6102	SO:0001589	frameshift_variant	0				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.1050delC	14.37:g.105398216delC	ENSP00000376372:p.His350fs		Q6UWD2	Frame_Shift_Del	DEL	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.P352fs	ENST00000392593.4	37	c.1050	CCDS9995.2	14																																																																																			PLD4	-	NULL	ENSG00000166428		0.687	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLD4	HGNC	protein_coding	OTTHUMT00000291348.2		0	49	0	C	NM_138790		105398216	1			no_errors	ENST00000392593	ensembl	human	known	74_37	frame_shift_del	8.86	72	7	DEL	0.962	0	-	105398216	C	-	105398216	7	5	128	1	0	1	0	1	0	0	0	0	12087	506	18	0	1076	0	PLD4	14	105398216	Frame_Shift_Del	DEL	C	TCGA-LN-A7HZ-01A-31D-A351-09	31955878	105398216	1951324	73	33016											
OTUD7A	161725	genome.wustl.edu	37	chr15	31822940	31822940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgtaaaaggcagttccCatcccctgttgtggccagag	10	9	11	11	0	0	1	0	0	0	1	2	1	2	1	4	2	1	5	4	2	2	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr15:31822940C>T	ENST00000307050.4	-	4	714	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	OTUD7A_ENST00000382902.1_Missense_Mutation_p.G208R	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	208	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)		AGGCAGTTCCCATCCCCTGTT	0.532																																																	0													138	108	118					15																	31822940		2201	4300	6501	SO:0001583	missense	0			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.622G>A	15.37:g.31822940C>T	ENSP00000305926:p.Gly208Arg		Q8IWK5	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.G208R	ENST00000307050.4	37	c.622	CCDS10026.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.442685	0.96187	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.70045	-0.45;-0.45	6.06	6.06	0.98353	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87665	0.2537	10	0.87932	D	0	-42.5939	20.6397	0.99537	0.0:1.0:0.0:0.0	.	208;208	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	R	208	ENSP00000305926:G208R;ENSP00000372358:G208R	ENSP00000305926:G208R	G	-	1	0	OTUD7A	29610232	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.992000	0.76238	2.880000	0.98712	0.650000	0.86243	GGG	OTUD7A	-	pfam_OTU,pfscan_OTU	ENSG00000169918		0.532	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2	-	0	82	0	C	NM_130901		31822940	-1	tier1	-	no_errors	ENST00000382902	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	31822940	C	T	31822940	3	4	128	1	0	0	0	0	1	0	0	0	11357	594	21	3	2190	3	OTUD7A	15	31822940	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09		31822940	70708452	74	33017											
ANKDD1A	348094	genome.wustl.edu	37	chr15	65218355	65218355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acctggaggatgtggccctgGaccacgtagacaaggtgaga	11	6	15	9	1	0	2	0	1	0	2	0	6	0	5	3	5	0	1	3	5	2	1			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr15:65218355G>C	ENST00000380230.3	+	5	486	c.457G>C	c.(457-459)Gac>Cac	p.D153H	ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.D153H|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.D62H|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.D153H|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.D62H	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	153					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TGTGGCCCTGGACCACGTAGA	0.582																																																	0													89	70	77					15																	65218355		2202	4299	6501	SO:0001583	missense	0				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.457G>C	15.37:g.65218355G>C	ENSP00000369579:p.Asp153His		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt	p.D153H	ENST00000380230.3	37	c.457	CCDS10197.2	15	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447023	0.63178	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000496660;ENST00000395723	T;T;T;T;T	0.73152	2.27;2.27;2.27;-0.72;2.28	4.31	4.31	0.51392	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000010	T	0.79563	0.4467	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.996;0.987;0.991	T	0.81315	-0.0988	10	0.87932	D	0	-32.2217	12.1532	0.54062	0.0:0.0:1.0:0.0	.	153;59;153;153	Q495B1;A4QMR4;Q495B1-2;Q495B1-1	AKD1A_HUMAN;.;.;.	H	153;153;153;62;62	ENSP00000369579:D153H;ENSP00000350329:D153H;ENSP00000379070:D153H;ENSP00000420999:D62H;ENSP00000379073:D62H	ENSP00000350329:D153H	D	+	1	0	ANKDD1A	63005408	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.265000	0.65519	2.247000	0.74100	0.563000	0.77884	GAC	ANKDD1A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000166839		0.582	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKDD1A	HGNC	protein_coding	OTTHUMT00000256705.2	-	0	69	0	G	NM_182703		65218355	1	tier1	-	no_errors	ENST00000380230	ensembl	human	known	74_37	missense	26.76	52	19	SNP	1.000	C	C	65218355	G	C	65218355	3	2	128	1	0	0	0	0	1	0	0	0	624	1174	41	5	475	5	ANKDD1A	15	65218355	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	33395415	65218355	37313037	75	33018											
RCCD1	91433	genome.wustl.edu	37	chr15	91500556	91500556	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggggaagacgatccggccgGtgaggcccaggctgggaggc	8	3	20	10	3	0	2	0	1	0	1	1	5	1	4	3	8	0	1	3	8	1	0			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr15:91500556G>C	ENST00000394258.2	+	3	582	c.380G>C	c.(379-381)gGt>gCt	p.G127A	AC068831.6_ENST00000553321.1_RNA|RCCD1_ENST00000556618.1_Missense_Mutation_p.G127A|RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000555155.1_Missense_Mutation_p.G127A	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	127						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			GATCCGGCCGGTGAGGCCCAG	0.721																																																	0													10	9	9					15																	91500556		1991	3941	5932	SO:0001583	missense	0				CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.380G>C	15.37:g.91500556G>C	ENSP00000377801:p.Gly127Ala		B2RTP9|Q29RX6	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.G127A	ENST00000394258.2	37	c.380	CCDS32333.1	15	.	.	.	.	.	.	.	.	.	.	G	1.774	-0.483562	0.04383	.	.	ENSG00000166965	ENST00000394258;ENST00000555155;ENST00000556618	T;T;T	0.37058	1.22;1.23;1.22	3.52	-3.8	0.04307	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	2.603020	0.01679	N	0.026006	T	0.18425	0.0442	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.26815	-1.0092	10	0.62326	D	0.03	.	4.2703	0.10783	0.1115:0.5266:0.22:0.1419	.	127;127	G3V2I3;A6NED2	.;RCCD1_HUMAN	A	127	ENSP00000377801:G127A;ENSP00000450678:G127A;ENSP00000451963:G127A	ENSP00000377801:G127A	G	+	2	0	RCCD1	89301560	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.347000	0.07750	-0.404000	0.07610	0.555000	0.69702	GGT	RCCD1	-	superfamily_RCC1/BLIP-II	ENSG00000166965		0.721	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCCD1	HGNC	protein_coding	OTTHUMT00000414748.1	-	0	13	0	G	NM_033544		91500556	1	tier1	-	no_errors	ENST00000394258	ensembl	human	known	74_37	missense	54.55	5	6	SNP	0.001	C	C	91500556	G	C	91500556	3	2	128	1	0	0	0	0	1	0	0	0	13220	1261	44	5	386	5	RCCD1	15	91500556	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	26282201	91500556	11030836	76	33019											
TELO2	9894	genome.wustl.edu	37	chr16	1557008	1557008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctggttctcggaaggctgGcgcacaccttaggggccctg	6	8	15	12	2	1	0	0	0	1	0	2	1	1	1	2	6	1	4	2	6	2	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr16:1557008G>A	ENST00000262319.6	+	18	2461	c.2182G>A	c.(2182-2184)Gcg>Acg	p.A728T		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	728					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CGGAAGGCTGGCGCACACCTT	0.652																																																	0													67	51	57					16																	1557008		2198	4298	6496	SO:0001583	missense	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2182G>A	16.37:g.1557008G>A	ENSP00000262319:p.Ala728Thr		D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.A728T	ENST00000262319.6	37	c.2182	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	G	7.124	0.578544	0.13686	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.13778	2.56	4.62	1.28	0.21552	.	0.730045	0.14385	N	0.322883	T	0.08846	0.0219	N	0.25144	0.715	0.21020	N	0.999805	B	0.02656	0.0	B	0.01281	0.0	T	0.29274	-1.0017	10	0.41790	T	0.15	-6.775	8.4153	0.32668	0.2558:0.0:0.7442:0.0	.	728	Q9Y4R8	TELO2_HUMAN	T	251;728	ENSP00000262319:A728T	ENSP00000262319:A728T	A	+	1	0	TELO2	1497009	0.506000	0.26139	0.928000	0.36995	0.518000	0.34316	0.759000	0.26461	0.378000	0.24764	-0.605000	0.04089	GCG	TELO2	-	superfamily_ARM-type_fold	ENSG00000100726		0.652	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2		0	60	0	G	NM_016111		1557008	1			no_errors	ENST00000262319	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.925	A	A	1557008	G	A	1557008	3	1	128	1	0	0	0	0	1	0	0	0	15804	1203	42	3	2248	3	TELO2	16	1557008	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09		1557008	88797745	77	33020											
MAPK3	5595	genome.wustl.edu	37	chr16	30129434	30129434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatactccgtcaggaagccGgtgtggtcatgctcaggatc	9	9	12	11	2	3	0	3	0	0	0	5	2	4	2	2	4	3	1	2	4	2	1	rs542338052		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr16:30129434G>A	ENST00000263025.4	-	4	678	c.594C>T	c.(592-594)acC>acT	p.T198T	MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000484663.1_Silent_p.T84T|MAPK3_ENST00000322266.5_Silent_p.T198T|MAPK3_ENST00000403394.1_Silent_p.T198T|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000395199.3_Silent_p.T198T|MAPK3_ENST00000395202.1_Silent_p.T198T	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	198	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)	TCAGGAAGCCGGTGTGGTCAT	0.597													G|||	1	0.000199681	0	0	5008	,	,		17804	0		0	False		,,,				2504	0.001																0													52	48	49					16																	30129434		2197	4300	6497	SO:0001819	synonymous_variant	0			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.594C>T	16.37:g.30129434G>A			A8CZ58|B0LPG3|Q8NHX1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.T198	ENST00000263025.4	37	c.594	CCDS10672.1	16	.	.	.	.	.	.	.	.	.	.	G	2.027	-0.423219	0.04734	.	.	ENSG00000102882	ENST00000495629;ENST00000481230	.	.	.	5.69	-11.4	0.00090	.	.	.	.	.	T	0.34135	0.0887	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43861	-0.9365	4	.	.	.	.	4.001	0.09580	0.2395:0.227:0.4227:0.1108	.	.	.	.	L	159;152	.	.	P	-	2	0	MAPK3	30036935	0.000000	0.05858	0.426000	0.26672	0.212000	0.24457	-1.872000	0.01639	-2.477000	0.00525	-1.031000	0.02408	CCG	MAPK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	ENSG00000102882		0.597	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK3	HGNC	protein_coding	OTTHUMT00000255196.2	-	0	34	0	G			30129434	-1	tier1	-	no_errors	ENST00000263025	ensembl	human	known	74_37	silent	25.49	38	13	SNP	0.038	A	A	30129434	G	A	30129434	2	1	128	1	0	0	0	0	0	0	0	1	9317	1103	39	1		1	MAPK3	16	30129434	Silent	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	28572426	30129434	60225319	78	33021											
ZNF646	9726	genome.wustl.edu	37	chr16	31088787	31088787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgtggggactgtggccGtacttaccgccatgctggga	5	9	15	12	3	0	0	0	0	0	0	0	2	0	2	4	4	3	3	4	4	2	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr16:31088787G>A	ENST00000394979.2	+	1	1565	c.1142G>A	c.(1141-1143)cGt>cAt	p.R381H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R381H			O15015	ZN646_HUMAN	zinc finger protein 646	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)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GACTGTGGCCGTACTTACCGC	0.592																																																	0													36	32	33					16																	31088787		2197	4300	6497	SO:0001583	missense	0			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.1142G>A	16.37:g.31088787G>A	ENSP00000378429:p.Arg381His		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R381H	ENST00000394979.2	37	c.1142		16	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745524	0.69418	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.55588	0.51;0.51	5.44	5.44	0.79542	.	.	.	.	.	T	0.65491	0.2696	L	0.49571	1.57	0.39614	D	0.969921	D	0.89917	1.0	D	0.91635	0.999	T	0.68652	-0.5352	9	0.72032	D	0.01	-17.1902	11.5132	0.50504	0.0835:0.0:0.9165:0.0	.	381	O15015-2	.	H	381	ENSP00000300850:R381H;ENSP00000378429:R381H	ENSP00000300850:R381H	R	+	2	0	ZNF646	30996288	0.260000	0.24053	1.000000	0.80357	0.998000	0.95712	2.364000	0.44187	2.557000	0.86248	0.655000	0.94253	CGT	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167395		0.592	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0	50	0	G	NM_014699		31088787	1	tier1	-	no_errors	ENST00000300850	ensembl	human	known	74_37	missense	64.62	23	42	SNP	1.000	A	A	31088787	G	A	31088787	3	1	128	1	0	0	0	0	1	0	0	0	18110	1145	40	1	1144	1	ZNF646	16	31088787	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	959353	31088787	59265966	79	33022											
ZNF423	23090	genome.wustl.edu	37	chr16	49557603	49557603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatcttgtcctcctgccCgtgcacggcaaagatgtgct	7	11	11	12	2	1	2	0	0	1	2	3	2	3	2	3	1	3	4	3	1	2	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr16:49557603C>T	ENST00000561648.1	-	7	3810	c.3757G>A	c.(3757-3759)Ggg>Agg	p.G1253R	ZNF423_ENST00000562520.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1193R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000262383.2_Missense_Mutation_p.G1253R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1253					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)	p.G1253W(2)		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)				TCCTCCTGCCCGTGCACGGCA	0.612																																																	2	Substitution - Missense(2)	lung(2)											173	119	137					16																	49557603		2199	4300	6499	SO:0001583	missense	0			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.3757G>A	16.37:g.49557603C>T	ENSP00000455426:p.Gly1253Arg		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1253R	ENST00000561648.1	37	c.3757	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.129607	0.94473	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.35605	1.3;1.3	5.41	5.41	0.78517	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.37888	-0.9686	9	.	.	.	-19.3624	19.1919	0.93671	0.0:1.0:0.0:0.0	.	1253	Q2M1K9	ZN423_HUMAN	R	1253;1136	ENSP00000262383:G1253R;ENSP00000442321:G1136R	.	G	-	1	0	ZNF423	48115104	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.480000	0.81109	2.532000	0.85374	0.561000	0.74099	GGG	ZNF423	-	pfscan_Znf_C2H2	ENSG00000102935		0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	-	0	39	0	C	NM_015069		49557603	-1	tier1	-	no_errors	ENST00000262383	ensembl	human	known	74_37	missense	51.85	13	14	SNP	1.000	T	T	49557603	C	T	49557603	3	4	128	1	0	0	0	0	1	0	0	0	17946	652	23	1	105	1	ZNF423	16	49557603	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	18468816	49557603	40797150	80	33023											
KCTD19	146212	genome.wustl.edu	37	chr16	67324844	67324844	+	Missense_Mutation	SNP	T	T	C	0	1	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	gtcatccttgaagccggtgaTggccagcaaatctaccacaa	12	8	9	12	1	2	2	1	2	1	0	3	2	3	2	4	2	3	1	4	2	4	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr16:67324844T>C	ENST00000304372.5	-	15	2666	c.2611A>G	c.(2611-2613)Atc>Gtc	p.I871V		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	871					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)		AAGCCGGTGATGGCCAGCAAA	0.617																																																	0													55	60	58					16																	67324844		2012	4177	6189	SO:0001583	missense	0			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.2611A>G	16.37:g.67324844T>C	ENSP00000305702:p.Ile871Val		B4DZ49|Q8N804	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.I871V	ENST00000304372.5	37	c.2611	CCDS42179.1	16	.	.	.	.	.	.	.	.	.	.	T	13.75	2.331053	0.41297	.	.	ENSG00000168676	ENST00000304372	T	0.59772	0.24	5.67	4.58	0.56647	.	0.317293	0.26959	N	0.021621	T	0.40398	0.1115	N	0.19112	0.55	0.26664	N	0.971856	B	0.02656	0.0	B	0.01281	0.0	T	0.28586	-1.0039	10	0.42905	T	0.14	-9.1288	9.2661	0.37641	0.0:0.082:0.0:0.918	.	871	Q17RG1	KCD19_HUMAN	V	871	ENSP00000305702:I871V	ENSP00000305702:I871V	I	-	1	0	KCTD19	65882345	0.998000	0.40836	0.996000	0.52242	0.938000	0.57974	1.686000	0.37669	0.997000	0.38969	0.379000	0.24179	ATC	KCTD19	-	NULL	ENSG00000168676		0.617	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD19	HGNC	protein_coding	OTTHUMT00000422061.1	-	0	27	0	T	XM_085367		67324844	-1	tier1	-	no_errors	ENST00000304372	ensembl	human	known	74_37	missense	14.29	41	7	SNP	0.997	C	C	67324844	T	C	67324844	3	2	128	1	0	0	0	0	1	0	0	0	8133	1464	51	4	177	4	KCTD19	16	67324844	Missense_Mutation	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09	17767241	67324844	23029909	81	33024											
FOXF1	2294	genome.wustl.edu	37	chr16	86544572	86544572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggccagcgagttcatgttcGaggagggctcctttcggcgg	5	9	16	11	5	1	0	1	0	0	0	4	3	2	1	2	5	1	3	2	5	0	3	rs148498631		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr16:86544572G>A	ENST00000262426.4	+	1	440	c.397G>A	c.(397-399)Gag>Aag	p.E133K	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	133					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GTTCATGTTCGAGGAGGGCTC	0.637																																																	0													62	77	72					16																	86544572		2198	4298	6496	SO:0001583	missense	0			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"Forkhead boxes"	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.397G>A	16.37:g.86544572G>A	ENSP00000262426:p.Glu133Lys		B2RAF4|Q5FWE5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E133K	ENST00000262426.4	37	c.397	CCDS10957.2	16	.	.	.	.	.	.	.	.	.	.	G	33	5.242577	0.95272	.	.	ENSG00000103241	ENST00000262426	T	0.67345	-0.26	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81797	-0.0768	10	0.72032	D	0.01	.	16.1868	0.81960	0.0:0.0:1.0:0.0	.	133	Q12946	FOXF1_HUMAN	K	133	ENSP00000262426:E133K	ENSP00000262426:E133K	E	+	1	0	FOXF1	85102073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.379000	0.97198	2.052000	0.61016	0.650000	0.86243	GAG	FOXF1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000103241		0.637	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FOXF1	HGNC	protein_coding	OTTHUMT00000269103.2	-	0	85	0	G	NM_001451		86544572	1	tier1	-	no_errors	ENST00000262426	ensembl	human	known	74_37	missense	74.07	21	60	SNP	1.000	A	A	86544572	G	A	86544572	3	1	128	1	0	0	0	0	1	0	0	0	6029	1059	37	1	399	1	FOXF1	16	86544572	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	19219728	86544572	3810181	82	33025											
CAMKK1	84254	genome.wustl.edu	37	chr17	3786462	3786462	+	Silent	SNP	A	A	G	1	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	gcctgggaccctctcgggggAgggcgacctgtgaccaggaa	7	5	17	12	2	1	1	0	1	1	0	2	5	1	4	4	5	0	0	4	5	1	0			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:3786462A>G	ENST00000348335.2	-	6	670	c.522T>C	c.(520-522)ccT>ccC	p.P174P	CAMKK1_ENST00000158166.5_Silent_p.P174P|CAMKK1_ENST00000381769.2_Silent_p.P201P|CAMKK1_ENST00000381771.2_Silent_p.P174P	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	174	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)		CTCTCGGGGGAGGGCGACCTG	0.632																																																	0													59	59	59					17																	3786462		2203	4300	6503	SO:0001819	synonymous_variant	0			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.522T>C	17.37:g.3786462A>G			Q9BQH3	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P174	ENST00000348335.2	37	c.522	CCDS11038.1	17																																																																																			CAMKK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000004660		0.632	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	HGNC	protein_coding	OTTHUMT00000207456.1	-	0	39	0	A	NM_032294, NM_172206, NM_172207		3786462	-1	tier1	-	no_errors	ENST00000381771	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	G	G	3786462	A	G	3786462	2	3	128	1	0	0	0	0	0	0	0	1	2613	291	11	4		4	CAMKK1	17	3786462	Silent	SNP	A	TCGA-LN-A7HZ-01A-31D-A351-09		3786462	77408748	83	33026											
GPS2	2874	genome.wustl.edu	37	chr17	7216753	7216753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagggctgtggctgtggctGagataggtactgcactgcag	8	10	16	7	0	0	1	0	1	0	1	0	2	0	1	0	4	3	6	0	4	3	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:7216753G>T	ENST00000380728.2	-	8	970	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	GPS2_ENST00000391950.3_Missense_Mutation_p.Q224K|GPS2_ENST00000389167.5_Missense_Mutation_p.Q224K|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	224					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGCTGTGGCTGAGATAGGTAC	0.512											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													82	84	83					17																	7216753		2203	4300	6503	SO:0001583	missense	0			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.670C>A	17.37:g.7216753G>T	ENSP00000370104:p.Gln224Lys	640	B4DXA1|Q6FHM8	Missense_Mutation	SNP	NULL	p.Q224K	ENST00000380728.2	37	c.670	CCDS11100.1	17	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039289	0.75617	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.41758	0.99;0.99	4.74	4.74	0.60224	.	0.072326	0.56097	U	0.000034	T	0.21801	0.0525	N	0.14661	0.345	0.39486	D	0.967967	B	0.33103	0.397	B	0.30943	0.122	T	0.10042	-1.0647	10	0.10636	T	0.68	-0.0074	10.2803	0.43534	0.0914:0.0:0.9086:0.0	.	224	Q13227	GPS2_HUMAN	K	224	ENSP00000370104:Q224K;ENSP00000379841:Q224K	ENSP00000319371:Q224K	Q	-	1	0	GPS2	7157477	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	4.948000	0.63590	2.459000	0.83118	0.655000	0.94253	CAG	GPS2	-	NULL	ENSG00000132522		0.512	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	HGNC	protein_coding	OTTHUMT00000220048.4		0	47	0	G	NM_004489		7216753	-1			no_errors	ENST00000380728	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.999	T	T	7216753	G	T	7216753	3	4	128	1	0	0	0	0	1	0	0	0	6760	1299	45	3	329	3	GPS2	17	7216753	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	3430291	7216753	73978457	84	33027											
TP53	7157	genome.wustl.edu	37	chr17	7578191	7578191	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagacctcaggcggctcatAgggcaccaccacactatgtc	10	6	9	16	1	2	1	2	0	0	1	3	1	2	1	4	3	0	2	4	3	2	2	rs530941076		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:7578191A>C	ENST00000269305.4	-	6	847	c.658T>G	c.(658-660)Tat>Gat	p.Y220D	TP53_ENST00000420246.2_Missense_Mutation_p.Y220D|TP53_ENST00000359597.4_Missense_Mutation_p.Y220D|TP53_ENST00000455263.2_Missense_Mutation_p.Y220D|TP53_ENST00000445888.2_Missense_Mutation_p.Y220D|TP53_ENST00000413465.2_Missense_Mutation_p.Y220D|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220N(12)|p.?(11)|p.Y220H(8)|p.0?(8)|p.Y220D(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(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)	GGCGGCTCATAGGGCACCACC	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"	51	Substitution - Missense(22)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(1)	breast(10)|biliary_tract(6)|endometrium(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(3)|skin(3)|stomach(2)|central_nervous_system(2)|urinary_tract(2)|lung(2)|liver(2)|ovary(1)											105	96	99					17																	7578191		2203	4300	6503	SO:0001583	missense	0	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.658T>G	17.37:g.7578191A>C	ENSP00000269305:p.Tyr220Asp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220D	ENST00000269305.4	37	c.658	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	23.0	4.367056	0.82463	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	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;0.999;0.999;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.992;1.0;0.998;0.995;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	1.0:0.0:0.0:0.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220D;ENSP00000352610:Y220D;ENSP00000269305:Y220D;ENSP00000398846:Y220D;ENSP00000391127:Y220D;ENSP00000391478:Y220D;ENSP00000425104:Y88D;ENSP00000423862:Y127D	ENSP00000269305:Y220D	Y	-	1	0	TP53	7518916	1.000000	0.71417	0.614000	0.29051	0.991000	0.79684	9.287000	0.95975	2.128000	0.65567	0.460000	0.39030	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	68	0	A	NM_000546		7578191	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	75.32	19	58	SNP	0.998	C	C	7578191	A	C	7578191	3	2	128	1	0	0	0	0	1	0	0	0	16429	420	15	4	636	4	TP53	17	7578191	Missense_Mutation	SNP	A	TCGA-LN-A7HZ-01A-31D-A351-09	361438	7578191	73617019	85	33028											
MYH13	8735	genome.wustl.edu	37	chr17	10267795	10267795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccttctctggtttcCggaggtagggagctgcttct	3	16	11	11	1	3	0	0	0	3	0	7	2	5	2	2	4	2	4	2	4	1	5			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:10267795C>T	ENST00000418404.3	-	2	216	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	MYH13_ENST00000252172.4_Missense_Mutation_p.R18Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	18					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						CTCTGGTTTCCGGAGGTAGGG	0.493																																																	0													86	80	81					17																	10267795		1917	4136	6053	SO:0001583	missense	0			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.53G>A	17.37:g.10267795C>T	ENSP00000404570:p.Arg18Gln		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R18Q	ENST00000418404.3	37	c.53	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.109212	0.94292	.	.	ENSG00000006788	ENST00000252172	D	0.86694	-2.16	4.69	3.72	0.42706	.	.	.	.	.	D	0.92639	0.7661	M	0.92122	3.275	0.39004	D	0.959411	D	0.64830	0.994	P	0.53722	0.733	D	0.94506	0.7714	9	0.62326	D	0.03	.	13.4236	0.61011	0.0:0.9239:0.0:0.0761	.	18	Q9UKX3	MYH13_HUMAN	Q	18	ENSP00000252172:R18Q	ENSP00000252172:R18Q	R	-	2	0	MYH13	10208520	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	7.580000	0.82523	1.334000	0.45468	0.655000	0.94253	CGG	MYH13	-	NULL	ENSG00000006788		0.493	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0	41	0	C	NM_003802		10267795	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	68.00	16	34	SNP	1.000	T	T	10267795	C	T	10267795	3	4	128	1	0	0	0	0	1	0	0	0	10070	652	23	1	5919	1	MYH13	17	10267795	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	2689604	10267795	70927415	86	33029											
MED1	5469	genome.wustl.edu	37	chr17	37566857	37566857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctgctagccgggggcagGttctttttcaccatgtcttc	4	13	13	11	1	3	0	1	0	2	0	4	0	3	0	2	4	2	4	2	4	1	5			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:37566857G>A	ENST00000394287.3	-	17	1822	c.1617C>T	c.(1615-1617)aaC>aaT	p.N539N	MED1_ENST00000300651.6_Silent_p.N539N			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)		CCGGGGGCAGGTTCTTTTTCA	0.542										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													106	101	103					17																	37566857		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1617C>T	17.37:g.37566857G>A			B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	pfam_Mediator_Med1_met/fun	p.N539	ENST00000394287.3	37	c.1617		17																																																																																			MED1	-	NULL	ENSG00000125686		0.542	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	-	0	28	0	G	NM_004774		37566857	-1	tier1	-	no_errors	ENST00000300651	ensembl	human	known	74_37	silent	48.89	23	22	SNP	1.000	A	A	37566857	G	A	37566857	2	1	128	1	0	0	0	0	0	0	0	1	9463	1252	44	3		3	MED1	17	37566857	Silent	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	27299062	37566857	43628353	87	33030											
TRIM37	4591	genome.wustl.edu	37	chr17	57109426	57109426	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgatattctactactGgaacccacataaccatggct	11	13	5	12	0	2	1	0	1	2	0	2	2	2	2	2	2	4	1	2	2	5	7			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:57109426G>A	ENST00000262294.7	-	18	2038	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	TRIM37_ENST00000393065.2_Silent_p.S559S|TRIM37_ENST00000376149.3_Silent_p.S471S|TRIM37_ENST00000393066.3_Silent_p.S593S	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	593					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)					TTCTACTACTGGAACCCACAT	0.343									Mulibrey Nanism																																								0													104	111	109					17																	57109426		2203	4300	6503	SO:0001819	synonymous_variant	0	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.1779C>T	17.37:g.57109426G>A			Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.S593	ENST00000262294.7	37	c.1779	CCDS32694.1	17																																																																																			TRIM37	-	NULL	ENSG00000108395		0.343	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	-	0	46	0	G	NM_015294		57109426	-1	tier1	-	no_errors	ENST00000262294	ensembl	human	known	74_37	silent	6.49	72	5	SNP	0.999	A	A	57109426	G	A	57109426	2	1	128	1	0	0	0	0	0	0	0	1	16559	1335	47	3		3	TRIM37	17	57109426	Silent	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	19542569	57109426	24085784	88	33031											
BPTF	2186	genome.wustl.edu	37	chr17	65955782	65955783	+	In_Frame_Ins	INS	-	-	GCC																															cagcccctccagcccctccaINSccttcacctccccctccacc																								rs60308484		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:65955782_65955783insGCC	ENST00000321892.4	+	26	8491_8492	c.8430_8431insGCC	c.(8431-8433)cct>GCCcct	p.2810_2811insA	BPTF_ENST00000306378.6_In_Frame_Ins_p.2684_2685insA|BPTF_ENST00000424123.3_In_Frame_Ins_p.2528_2529insA|BPTF_ENST00000335221.5_In_Frame_Ins_p.2667_2668insA			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2810	Pro-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)			cagcccctccaCCTTCACCTCC	0.589																																																	0																																										SO:0001652	inframe_insertion	0			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	Exception_encountered	17.37:g.65955782_65955783insGCC	ENSP00000315454:p.Pro2810_Pro2811insAla		Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Ins	INS	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.2810in_frame_insA	ENST00000321892.4	37	c.8430_8431		17																																																																																			BPTF	-	superfamily_Bromodomain	ENSG00000171634		0.589	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding			0	30	0	-	NM_182641, NM_004459		65955783	1	tier1		no_errors	ENST00000321892	ensembl	human	known	74_37	in_frame_ins	11.90	37	5	INS	0.069:0.577	GCC	GCC	65955783	-	GCC	65955782	7	5	128	1	0	1	1	0	0	0	0	0	1499	146	6	0	8532	0	BPTF	17	65955782	In_Frame_Ins	INS	-	TCGA-LN-A7HZ-01A-31D-A351-09	8846356	65955782	15239428	89	33032											
ITGB4	3691	genome.wustl.edu	37	chr17	73723864	73723864	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagagccccgtggacctgTacatcctcatggacttctcc	7	10	10	14	1	2	1	1	0	1	1	4	4	3	3	5	3	2	1	5	3	1	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:73723864T>C	ENST00000200181.3	+	5	584	c.397T>C	c.(397-399)Tac>Cac	p.Y133H	ITGB4_ENST00000339591.3_Missense_Mutation_p.Y133H|ITGB4_ENST00000579662.1_Missense_Mutation_p.Y133H|ITGB4_ENST00000449880.2_Missense_Mutation_p.Y133H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.Y133H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	133	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGTGGACCTGTACATCCTCAT	0.612																																																	0													70	63	66					17																	73723864		2203	4300	6503	SO:0001583	missense	0				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.397T>C	17.37:g.73723864T>C	ENSP00000200181:p.Tyr133His		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.Y133H	ENST00000200181.3	37	c.397	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	T	15.45	2.837226	0.50951	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97455	-4.39;-4.39;-4.39	5.22	5.22	0.72569	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.64402	D	0.000001	D	0.98943	0.9641	H	0.96365	3.81	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	0.99544	1.0964	10	0.87932	D	0	.	15.1136	0.72380	0.0:0.0:0.0:1.0	.	133;133;133;133	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	H	49;133;133;133	ENSP00000200181:Y133H;ENSP00000344079:Y133H;ENSP00000400217:Y133H	ENSP00000200181:Y133H	Y	+	1	0	ITGB4	71235459	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.033000	0.88852	1.980000	0.57719	0.533000	0.62120	TAC	ITGB4	-	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000132470		0.612	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	-	0	75	0	T			73723864	1	tier1	-	no_errors	ENST00000200181	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	C	C	73723864	T	C	73723864	3	2	128	1	0	0	0	0	1	0	0	0	7924	1638	57	4	411	4	ITGB4	17	73723864	Missense_Mutation	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09	7768082	73723864	7471346	90	33033											
TMC8	147138	genome.wustl.edu	37	chr17	76130023	76130023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcctcatgggacttctGcatccgggtgcaggaagcag	7	10	12	12	1	3	0	1	0	2	0	5	2	4	2	2	3	3	3	2	3	1	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr17:76130023G>T	ENST00000318430.5	+	7	1132	c.758G>T	c.(757-759)tGc>tTc	p.C253F	TMC6_ENST00000322914.3_5'Flank|TMC8_ENST00000589691.1_Missense_Mutation_p.C30F	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	253					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TGGGACTTCTGCATCCGGGTG	0.592																																																	0													67	67	67					17																	76130023		2202	4300	6502	SO:0001583	missense	0			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.758G>T	17.37:g.76130023G>T	ENSP00000325561:p.Cys253Phe		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.C253F	ENST00000318430.5	37	c.758	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	G	18.53	3.642954	0.67244	.	.	ENSG00000167895	ENST00000318430	T	0.58797	0.31	3.94	3.94	0.45596	.	0.111903	0.64402	D	0.000016	T	0.72953	0.3525	M	0.81497	2.545	0.42899	D	0.994227	D	0.71674	0.998	D	0.81914	0.995	T	0.72181	-0.4368	10	0.10111	T	0.7	-27.2746	14.9751	0.71264	0.0:0.0:1.0:0.0	.	253	Q8IU68	TMC8_HUMAN	F	253	ENSP00000325561:C253F	ENSP00000325561:C253F	C	+	2	0	TMC8	73641618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.817000	0.55668	2.033000	0.60031	0.558000	0.71614	TGC	TMC8	-	NULL	ENSG00000167895		0.592	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	-	0	40	0	G			76130023	1	tier1	-	no_errors	ENST00000318430	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	76130023	G	T	76130023	3	4	128	1	0	0	0	0	1	0	0	0	16038	1319	46	3	780	3	TMC8	17	76130023	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	2406159	76130023	5065187	91	33034											
USP14	9097	genome.wustl.edu	37	chr18	203180	203180	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggaatctgtgaatgccaAagttcttaaggttagtaatg	14	12	11	4	0	2	1	0	1	2	0	2	3	2	2	1	2	1	3	1	2	7	4			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr18:203180A>G	ENST00000261601.7	+	12	1116	c.1025A>G	c.(1024-1026)aAa>aGa	p.K342R	USP14_ENST00000400266.3_Missense_Mutation_p.K331R|USP14_ENST00000383589.2_Missense_Mutation_p.K296R|USP14_ENST00000582707.1_Missense_Mutation_p.K307R	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	342	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)				GTGAATGCCAAAGTTCTTAAG	0.343																																																	0													61	64	63					18																	203180		2203	4300	6503	SO:0001583	missense	0			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.1025A>G	18.37:g.203180A>G	ENSP00000261601:p.Lys342Arg		J3QRZ5|Q53XY5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.K342R	ENST00000261601.7	37	c.1025	CCDS32780.1	18	.	.	.	.	.	.	.	.	.	.	a	28.9	4.963670	0.92791	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.56941	0.43;0.43	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.040549	0.85682	D	0.000000	T	0.77412	0.4126	H	0.94620	3.56	0.80722	D	1	D;P;P	0.58620	0.983;0.795;0.879	P;P;P	0.58013	0.831;0.687;0.687	D	0.84070	0.0379	10	0.62326	D	0.03	-24.7451	16.1502	0.81611	1.0:0.0:0.0:0.0	.	331;307;342	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	R	342;307;331	ENSP00000261601:K342R;ENSP00000383125:K331R	ENSP00000261601:K342R	K	+	2	0	USP14	193180	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.726000	0.91474	2.203000	0.70933	0.460000	0.39030	AAA	USP14	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000101557		0.343	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP14	HGNC	protein_coding	OTTHUMT00000440305.3	-	0	59	0	A	NM_005151		203180	1	tier1	-	no_errors	ENST00000261601	ensembl	human	known	74_37	missense	50.00	25	25	SNP	1.000	G	G	203180	A	G	203180	3	3	128	1	0	0	0	0	1	0	0	0	17094	14	1	4	1071	4	USP14	18	203180	Missense_Mutation	SNP	A	TCGA-LN-A7HZ-01A-31D-A351-09		203180	77874068	92	33035											
CNDP2	55748	genome.wustl.edu	37	chr18	72183588	72183588	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttggcaagttctccatcagGctcgtgccgaacatgactcc	8	10	10	13	2	2	1	1	1	1	0	5	2	3	1	3	2	2	4	3	2	2	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr18:72183588G>A	ENST00000324262.4	+	9	1345	c.1029G>A	c.(1027-1029)agG>agA	p.R343R	CNDP2_ENST00000324301.8_Silent_p.R259R|CNDP2_ENST00000579847.1_Silent_p.R343R	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	343					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)		TCTCCATCAGGCTCGTGCCGA	0.627																																																	0													107	81	90					18																	72183588		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1029G>A	18.37:g.72183588G>A			B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.R343	ENST00000324262.4	37	c.1029	CCDS12006.1	18																																																																																			CNDP2	-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	ENSG00000133313		0.627	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP2	HGNC	protein_coding	OTTHUMT00000256327.1	-	0	58	0	G	NM_018235		72183588	1	tier1	-	no_errors	ENST00000324262	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.017	A	A	72183588	G	A	72183588	2	1	128	1	0	0	0	0	0	0	0	1	3601	1194	42	3		3	CNDP2	18	72183588	Silent	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	71980408	72183588	5893660	93	33036											
DOT1L	84444	genome.wustl.edu	37	chr19	2213592	2213592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcctcagccactgccagGcccagaaggaggagatcagg	11	4	13	13	0	2	2	2	0	0	2	3	4	3	3	4	4	3	1	4	4	1	0			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:2213592G>A	ENST00000398665.3	+	17	1648	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	538					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)		CCACTGCCAGGCCCAGAAGGA	0.627																																																	0													55	59	58					19																	2213592		2024	4167	6191	SO:0001583	missense	0			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.1612G>A	19.37:g.2213592G>A	ENSP00000381657:p.Ala538Thr		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.A538T	ENST00000398665.3	37	c.1612	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153605	0.78114	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.24350	1.86	4.76	3.73	0.42828	.	0.056211	0.64402	D	0.000001	T	0.34542	0.0901	M	0.66939	2.045	0.41532	D	0.988468	P	0.49253	0.921	P	0.47786	0.557	T	0.25916	-1.0118	10	0.87932	D	0	-19.5899	11.8237	0.52254	0.0856:0.0:0.9144:0.0	.	538	Q8TEK3-2	.	T	538	ENSP00000381657:A538T	ENSP00000221482:A538T	A	+	1	0	DOT1L	2164592	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.219000	0.58561	0.993000	0.38866	0.561000	0.74099	GCC	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.627	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	-	0	47	0	G	NM_032482		2213592	1	tier1	-	no_errors	ENST00000398665	ensembl	human	known	74_37	missense	55.17	26	32	SNP	1.000	A	A	2213592	G	A	2213592	3	1	128	1	0	0	0	0	1	0	0	0	4723	1203	42	3	1678	3	DOT1L	19	2213592	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09		2213592	56915391	94	33037											
SLC25A41	284427	genome.wustl.edu	37	chr19	6433618	6433618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggttgggggggaggcggGgctttgatgagtaaggtctt	6	10	22	3	1	1	2	0	2	1	0	1	4	1	4	0	9	0	3	0	9	1	4			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:6433618G>A	ENST00000321510.6	-	1	155	c.87C>T	c.(85-87)gcC>gcT	p.A29A	SLC25A23_ENST00000601760.1_5'Flank	NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ggggaggcggggCTTTGATGA	0.572																																																	0													51	50	50					19																	6433618		1904	4105	6009	SO:0001819	synonymous_variant	0			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"Solute carriers"	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.87C>T	19.37:g.6433618G>A				Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.A29	ENST00000321510.6	37	c.87	CCDS45937.1	19																																																																																			SLC25A41	-	NULL	ENSG00000181240		0.572	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000462222.1	-	0	74	0	G	NM_173637		6433618	-1	tier1	-	no_errors	ENST00000321510	ensembl	human	known	74_37	silent	49.38	41	40	SNP	0.000	A	A	6433618	G	A	6433618	2	1	128	1	0	0	0	0	0	0	0	1	14551	1219	43	3		3	SLC25A41	19	6433618	Silent	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	4220026	6433618	52695365	95	33038											
XAB2	56949	genome.wustl.edu	37	chr19	7684915	7684915	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctctgcccgctgttccagCagcttcatgtcgtccatgcc	4	12	9	16	2	2	0	1	0	1	0	5	0	4	0	4	0	5	5	4	0	0	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:7684915C>A	ENST00000358368.4	-	17	2350	c.2313G>T	c.(2311-2313)ctG>ctT	p.L771L	XAB2_ENST00000534844.1_Silent_p.L768L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	771					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						GCTGTTCCAGCAGCTTCATGT	0.677								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													27	26	26					19																	7684915		2199	4293	6492	SO:0001819	synonymous_variant	0			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.2313G>T	19.37:g.7684915C>A			Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L771	ENST00000358368.4	37	c.2313	CCDS32892.1	19																																																																																			XAB2	-	NULL	ENSG00000076924		0.677	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	-	0	45	0	C	NM_020196		7684915	-1	tier1	-	no_errors	ENST00000358368	ensembl	human	known	74_37	silent	20.00	36	9	SNP	1.000	A	A	7684915	C	A	7684915	2	1	128	1	0	0	0	0	0	0	0	1	17467	697	25	3		3	XAB2	19	7684915	Silent	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	1251297	7684915	51444068	96	33039											
MARCH2	51257	genome.wustl.edu	37	chr19	8503364	8503364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaggcggacagccccgaGggcccccagcattctccact	7	4	13	17	3	1	0	0	0	1	0	2	3	1	2	5	4	2	1	5	4	0	1			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:8503364G>T	ENST00000602117.1	+	5	1130	c.675G>T	c.(673-675)gaG>gaT	p.E225D	MARCH2_ENST00000381035.4_Missense_Mutation_p.E155D|MARCH2_ENST00000393944.1_Missense_Mutation_p.E225D|MARCH2_ENST00000215555.2_Missense_Mutation_p.E225D|MARCH2_ENST00000601283.1_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	225					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						ACAGCCCCGAGGGCCCCCAGC	0.617																																																	0													37	40	39					19																	8503364		2203	4300	6503	SO:0001583	missense	0			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.675G>T	19.37:g.8503364G>T	ENSP00000471536:p.Glu225Asp		A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.E225D	ENST00000602117.1	37	c.675	CCDS12202.1	19	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970590	0.53614	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.14391	2.51;2.51;2.51	5.33	-0.527	0.11909	.	80.921400	0.00166	N	0.000000	T	0.12433	0.0302	L	0.51422	1.61	0.09310	N	1	B;B	0.28933	0.228;0.085	B;B	0.24394	0.053;0.026	T	0.22661	-1.0210	10	0.18276	T	0.48	-26.6253	4.876	0.13656	0.306:0.2758:0.4182:0.0	.	155;225	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	D	225;225;155	ENSP00000377518:E225D;ENSP00000215555:E225D;ENSP00000370423:E155D	ENSP00000215555:E225D	E	+	3	2	MARCH2	8409364	0.882000	0.30256	0.001000	0.08648	0.001000	0.01503	1.242000	0.32755	0.236000	0.21180	-0.150000	0.13652	GAG	MARCH2	-	NULL	ENSG00000099785		0.617	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH2	HGNC	protein_coding	OTTHUMT00000460361.2	-	0	79	0	G	NM_016496		8503364	1	tier1	-	no_errors	ENST00000215555	ensembl	human	known	74_37	missense	5.13	111	6	SNP	0.000	T	T	8503364	G	T	8503364	3	4	128	1	0	0	0	0	1	0	0	0	9339	991	35	3	689	3	MARCH2	19	8503364	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	818449	8503364	50625619	97	33040											
MUC16	94025	genome.wustl.edu	37	chr19	9085944	9085944	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcatgggtgctgagttGatgtctggtcctgaggttat	5	16	15	5	0	2	3	1	3	1	0	3	3	3	3	1	3	1	3	1	3	1	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:9085944G>T	ENST00000397910.4	-	1	6074	c.5871C>A	c.(5869-5871)atC>atA	p.I1957I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1957	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						GTGCTGAGTTGATGTCTGGTC	0.463																																																	0													220	219	219					19																	9085944		2100	4228	6328	SO:0001819	synonymous_variant	0			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.5871C>A	19.37:g.9085944G>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.I1957	ENST00000397910.4	37	c.5871	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	44	0	G	NM_024690		9085944	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.081	T	T	9085944	G	T	9085944	2	4	128	1	0	0	0	0	0	0	0	1	10011	1280	45	3		3	MUC16	19	9085944	Silent	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	582580	9085944	50043039	98	33041											
ZNF440	126070	genome.wustl.edu	37	chr19	11942659	11942659	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	tatccatgaaagaattcacaCtggagagaaaccatgtgaat	17	9	8	7	0	1	4	1	2	0	2	2	6	2	5	2	1	1	0	2	1	5	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:11942659C>G	ENST00000304060.5	+	4	832	c.668C>G	c.(667-669)aCt>aGt	p.T223S		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	223					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						AGAATTCACACTGGAGAGAAA	0.373																																																	0													72	75	74					19																	11942659		2203	4300	6503	SO:0001583	missense	0			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.668C>G	19.37:g.11942659C>G	ENSP00000305373:p.Thr223Ser		Q8N1R9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T223S	ENST00000304060.5	37	c.668	CCDS42503.1	19	.	.	.	.	.	.	.	.	.	.	c	9.711	1.157194	0.21454	.	.	ENSG00000171295	ENST00000304060;ENST00000427505	T;T	0.24151	1.87;1.87	1.37	0.135	0.14775	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17365	0.0417	L	0.28274	0.84	0.23991	N	0.996242	P	0.38335	0.627	B	0.37833	0.259	T	0.15838	-1.0423	9	0.59425	D	0.04	.	8.361	0.32359	0.0:0.5371:0.4629:0.0	.	223	Q8IYI8	ZN440_HUMAN	S	223;226	ENSP00000305373:T223S;ENSP00000393489:T226S	ENSP00000305373:T223S	T	+	2	0	ZNF440	11803659	0.000000	0.05858	0.036000	0.18154	0.080000	0.17528	-0.253000	0.08794	0.109000	0.17891	0.205000	0.17691	ACT	ZNF440	-	pfscan_Znf_C2H2	ENSG00000171295		0.373	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	-	0	114	0	C	NM_152357		11942659	1	tier1	-	no_errors	ENST00000304060	ensembl	human	known	74_37	missense	21.53	113	31	SNP	0.989	G	G	11942659	C	G	11942659	3	3	128	1	0	0	0	0	1	0	0	0	17961	565	20	5	682	5	ZNF440	19	11942659	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	2856715	11942659	47186324	99	33042											
CC2D1A	54862	genome.wustl.edu	37	chr19	14034533	14034533	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagttggcggaggactgtAagcggagcatggacattctg	12	8	15	6	2	1	0	0	0	1	0	1	4	1	4	0	5	2	3	0	5	3	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:14034533A>C	ENST00000318003.7	+	17	2090	c.1849A>C	c.(1849-1851)Aag>Cag	p.K617Q	CC2D1A_ENST00000589606.1_Missense_Mutation_p.K617Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	617					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)			GGAGGACTGTAAGCGGAGCAT	0.622																																																	0													75	84	81					19																	14034533		2013	4179	6192	SO:0001583	missense	0			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.1849A>C	19.37:g.14034533A>C	ENSP00000313601:p.Lys617Gln		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.K617Q	ENST00000318003.7	37	c.1849	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333088	0.60853	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.29397	1.57	4.64	4.64	0.57946	.	0.330816	0.29653	N	0.011549	T	0.25938	0.0632	L	0.33189	0.99	0.35113	D	0.766288	B;B;B	0.30361	0.075;0.277;0.215	B;B;B	0.32928	0.041;0.155;0.101	T	0.36187	-0.9758	10	0.44086	T	0.13	-14.4132	13.1043	0.59239	1.0:0.0:0.0:0.0	.	239;617;617	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	Q	617;240	ENSP00000313601:K617Q	ENSP00000254346:K240Q	K	+	1	0	CC2D1A	13895533	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.162000	0.89657	1.738000	0.51689	0.454000	0.30748	AAG	CC2D1A	-	NULL	ENSG00000132024		0.622	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	-	0	40	0	A	NM_017721		14034533	1	tier1	-	no_errors	ENST00000318003	ensembl	human	known	74_37	missense	53.45	27	31	SNP	1.000	C	C	14034533	A	C	14034533	3	2	128	1	0	0	0	0	1	0	0	0	2733	363	13	4	1915	4	CC2D1A	19	14034533	Missense_Mutation	SNP	A	TCGA-LN-A7HZ-01A-31D-A351-09	2091874	14034533	45094450	100	33043											
TMEM59L	25789	genome.wustl.edu	37	chr19	18729257	18729257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgatgctgtggctgagCtgctccaccctggtgaccgc	4	10	14	13	1	0	3	0	3	0	0	1	3	1	3	3	3	3	4	3	3	0	0			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:18729257C>T	ENST00000600490.1	+	8	1040	c.855C>T	c.(853-855)agC>agT	p.S285S	TMEM59L_ENST00000262817.3_Silent_p.S285S			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	285						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						TGTGGCTGAGCTGCTCCACCC	0.682																																																	0													27	23	24					19																	18729257		2202	4300	6502	SO:0001819	synonymous_variant	0			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 4"	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.855C>T	19.37:g.18729257C>T				Silent	SNP	pfam_Uncharacterised_TMEM59	p.S285	ENST00000600490.1	37	c.855	CCDS12383.1	19																																																																																			TMEM59L	-	NULL	ENSG00000105696		0.682	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	TMEM59L	HGNC	protein_coding	OTTHUMT00000465143.2	-	0	59	0	C			18729257	1	tier1	-	no_errors	ENST00000262817	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T	T	18729257	C	T	18729257	2	4	128	1	0	0	0	0	0	0	0	1	16233	796	28	3		3	TMEM59L	19	18729257	Silent	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	4694724	18729257	40399726	101	33044											
ZNF93	81931	genome.wustl.edu	37	chr19	20045338	20045338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaccagtcctcaacccttaTtaaacataagaaaattcata	18	11	2	10	0	2	1	2	0	0	1	3	1	3	1	3	0	3	0	3	0	9	6			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:20045338T>C	ENST00000343769.5	+	4	1602	c.1574T>C	c.(1573-1575)aTt>aCt	p.I525T	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TCAACCCTTATTAAACATAAG	0.363																																																	0													37	41	40					19																	20045338		2192	4294	6486	SO:0001583	missense	0			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1574T>C	19.37:g.20045338T>C	ENSP00000342002:p.Ile525Thr		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I525T	ENST00000343769.5	37	c.1574	CCDS32973.1	19	.	.	.	.	.	.	.	.	.	.	N	0.001	-4.689623	0.00000	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.35973	1.28	0.819	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09379	0.0231	N	0.02334	-0.595	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.14587	-1.0467	9	0.02654	T	1	.	0.1603	0.00102	0.2476:0.2608:0.2483:0.2433	.	525	P35789	ZNF93_HUMAN	T	525;497	ENSP00000342002:I525T	ENSP00000342002:I525T	I	+	2	0	ZNF93	19906338	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-6.692000	0.00057	-3.148000	0.00231	-3.189000	0.00055	ATT	ZNF93	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184635		0.363	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	-	0	53	0	T	NM_031218		20045338	1	tier1	-	no_errors	ENST00000343769	ensembl	human	known	74_37	missense	15.62	53	10	SNP	0.000	C	C	20045338	T	C	20045338	3	2	128	1	0	0	0	0	1	0	0	0	18250	1493	52	4	1588	4	ZNF93	19	20045338	Missense_Mutation	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09	1316081	20045338	39083645	102	33045											
ZNF257	113835	genome.wustl.edu	37	chr19	22271020	22271020	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgtaaaagtcttctataaGttttcaaattcagatagaca	16	15	5	5	0	4	2	2	0	2	2	4	2	4	2	0	0	0	2	0	0	7	9			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:22271020G>A	ENST00000594947.1	+	4	612	c.468G>A	c.(466-468)aaG>aaA	p.K156K	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	156					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)				TCTTCTATAAGTTTTCAAATT	0.318																																																	0													41	45	44					19																	22271020		2182	4284	6466	SO:0001819	synonymous_variant	0			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.468G>A	19.37:g.22271020G>A			B3KPS4|E9PG34|Q8NE34	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K156	ENST00000594947.1	37	c.468	CCDS46030.1	19																																																																																			ZNF257	-	NULL	ENSG00000197134		0.318	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	-	0	62	0	G			22271020	1	tier1	-	no_errors	ENST00000594947	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.000	A	A	22271020	G	A	22271020	2	1	128	1	0	0	0	0	0	0	0	1	17848	1020	36	3		3	ZNF257	19	22271020	Silent	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	2225682	22271020	36857963	103	33046											
ZNF792	126375	genome.wustl.edu	37	chr19	35449655	35449655	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaacttcccacagtcgctGcactcatatggcttttcacc	10	11	6	14	1	2	1	2	0	0	1	4	1	3	1	2	1	2	3	2	1	3	4			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr19:35449655G>A	ENST00000404801.1	-	4	1490	c.1104C>T	c.(1102-1104)tgC>tgT	p.C368C	ZNF792_ENST00000605484.1_Silent_p.C301C	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	368					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)			CACAGTCGCTGCACTCATATG	0.498																																					GBM(1;7 183 21053 22581 22847)												0													49	43	45					19																	35449655		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1104C>T	19.37:g.35449655G>A			B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C368	ENST00000404801.1	37	c.1104	CCDS12440.2	19																																																																																			ZNF792	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180884		0.498	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF792	HGNC	protein_coding	OTTHUMT00000317673.1	-	0	56	0	G	NM_175872		35449655	-1	tier1	-	no_errors	ENST00000404801	ensembl	human	known	74_37	silent	5.97	62	4	SNP	0.984	A	A	35449655	G	A	35449655	2	1	128	1	0	0	0	0	0	0	0	1	18212	1311	46	3		3	ZNF792	19	35449655	Silent	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	13178635	35449655	23679328	104	33047											
SIRPB2	284759	genome.wustl.edu	37	chr20	1471971	1471971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagcagggaggcaagtggGccaggcaggtgggggccgac	9	2	22	8	1	0	0	0	0	0	0	0	3	0	2	2	8	1	3	2	8	2	0			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:1471971G>A	ENST00000359801.3	-	1	71	c.35C>T	c.(34-36)gCc>gTc	p.A12V	AL109658.1_ENST00000580848.1_RNA|SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000444444.2_Missense_Mutation_p.A12V	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	8					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGGCAAGTGGGCCAGGCAGGT	0.622																																																	0													40	49	47					20																	1471971		1568	3582	5150	SO:0001583	missense	0			AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.35C>T	20.37:g.1471971G>A	ENSP00000352849:p.Ala12Val		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A12V	ENST00000359801.3	37	c.35	CCDS42849.1	20	.	.	.	.	.	.	.	.	.	.	G	8.121	0.780991	0.16120	.	.	ENSG00000196209	ENST00000359801;ENST00000444444;ENST00000381630;ENST00000381628	T;T;T	0.02498	4.59;4.3;4.27	3.29	-2.36	0.06663	.	2.100470	0.02193	N	0.061523	T	0.02304	0.0071	N	0.14661	0.345	0.19575	N	0.999965	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45862	-0.9232	10	0.33141	T	0.24	.	7.7251	0.28755	0.6523:0.0:0.3477:0.0	.	12;12	E9PCW6;Q5JXA9	.;SIRB2_HUMAN	V	12	ENSP00000352849:A12V;ENSP00000402438:A12V;ENSP00000371043:A12V	ENSP00000352849:A12V	A	-	2	0	SIRPB2	1419971	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.653000	0.01986	-0.483000	0.06772	-0.216000	0.12614	GCC	SIRPB2	-	NULL	ENSG00000196209		0.622	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPB2	HGNC	protein_coding	OTTHUMT00000077544.1		0	41	0	G	NM_178459		1471971	-1			no_errors	ENST00000359801	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	A	A	1471971	G	A	1471971	3	1	128	1	0	0	0	0	1	0	0	0	14379	1203	42	3	1013	3	SIRPB2	20	1471971	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09		1471971	61553549	105	33048											
TGM6	343641	genome.wustl.edu	37	chr20	2378611	2378611	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctccatcctggatcgaagCcccggtcaccaaaacaaccc	11	6	6	18	2	2	0	1	0	1	0	5	2	3	1	6	2	3	0	6	2	4	0	rs564481002		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:2378611C>T	ENST00000202625.2	+	5	652	c.591C>T	c.(589-591)agC>agT	p.S197S	TGM6_ENST00000381423.1_Silent_p.S197S|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	197					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)	TGGATCGAAGCCCCGGTCACC	0.582													C|||	1	0.000199681	0	0	5008	,	,		15961	0.001		0	False		,,,				2504	0																0													153	110	124					20																	2378611		2203	4300	6503	SO:0001819	synonymous_variant	0			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.591C>T	20.37:g.2378611C>T			Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.S197	ENST00000202625.2	37	c.591	CCDS13025.1	20																																																																																			TGM6	-	NULL	ENSG00000166948		0.582	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	HGNC	protein_coding	OTTHUMT00000077581.2	-	0	44	0	C	NM_198994		2378611	1	tier1	-	no_errors	ENST00000202625	ensembl	human	known	74_37	silent	47.06	45	40	SNP	0.994	T	T	2378611	C	T	2378611	2	4	128	1	0	0	0	0	0	0	0	1	15881	738	26	3		3	TGM6	20	2378611	Silent	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	906640	2378611	60646909	106	33049											
THBD	7056	genome.wustl.edu	37	chr20	23029775	23029775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccattgaggtcgagccgtgCccacctgctatagctggtgt	6	10	12	13	2	0	1	0	1	0	0	1	2	0	1	4	2	4	2	4	2	2	3			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:23029775C>T	ENST00000377103.2	-	1	603	c.367G>A	c.(367-369)Gca>Aca	p.A123T		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	123	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	TCGAGCCGTGCCCACCTGCTA	0.692																																																	0													19	13	15					20																	23029775		2164	4260	6424	SO:0001583	missense	0				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"CD molecules"	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.367G>A	20.37:g.23029775C>T	ENSP00000366307:p.Ala123Thr		Q8IV29|Q9UC32	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin	p.A123T	ENST00000377103.2	37	c.367	CCDS13148.1	20	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218547	0.58560	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.57595	0.39	5.18	4.17	0.49024	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.504193	0.14759	U	0.300118	T	0.52901	0.1763	L	0.49640	1.575	0.33298	D	0.564426	D	0.57257	0.979	P	0.52554	0.702	T	0.62167	-0.6911	10	0.46703	T	0.11	-21.6443	5.8277	0.18562	0.174:0.668:0.0:0.1579	.	123	P07204	TRBM_HUMAN	T	123;105	ENSP00000366307:A123T	ENSP00000366307:A123T	A	-	1	0	THBD	22977775	0.485000	0.25972	0.999000	0.59377	0.382000	0.30200	0.356000	0.20181	2.703000	0.92315	0.549000	0.68633	GCA	THBD	-	pirsf_CD93/CD141,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000178726		0.692	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBD	HGNC	protein_coding	OTTHUMT00000078307.2		0	34	0	C			23029775	-1			no_errors	ENST00000377103	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.730	T	T	23029775	C	T	23029775	3	4	128	1	0	0	0	0	1	0	0	0	15899	739	26	3	1364	3	THBD	20	23029775	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09	20651164	23029775	39995745	107	33050											
C20orf118	140711	genome.wustl.edu	37	chr20	35517755	35517755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccggcaggagcagttctGcatccaggagctggaggctt	7	7	16	11	1	1	0	0	0	1	0	2	3	2	3	2	6	3	6	2	6	0	2			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:35517755G>A	ENST00000217320.3	+	6	658	c.614G>A	c.(613-615)tGc>tAc	p.C205Y	TLDC2_ENST00000602922.1_Missense_Mutation_p.C205Y	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	205	TLD.																GAGCAGTTCTGCATCCAGGAG	0.627																																																	0													54	47	49					20																	35517755		2203	4300	6503	SO:0001583	missense	0			AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"hypothetical protein LOC140711", "TLD domain containing 2"		"chromosome 20 open reading frame 118"	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.614G>A	20.37:g.35517755G>A	ENSP00000217320:p.Cys205Tyr		B3KVU8	Missense_Mutation	SNP	pfam_TLDc,smart_TLDc	p.C205Y	ENST00000217320.3	37	c.614	CCDS33465.1	20	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.338924	0.01287	.	.	ENSG00000101342	ENST00000217320	T	0.41065	1.01	5.24	1.86	0.25419	TLDc (2);	0.454245	0.27056	N	0.021148	T	0.20740	0.0499	N	0.20986	0.625	0.32428	N	0.548456	B	0.02656	0.0	B	0.01281	0.0	T	0.33214	-0.9877	10	0.02654	T	1	0.1916	7.3265	0.26557	0.1652:0.0:0.649:0.1858	.	205	A0PJX2	CT118_HUMAN	Y	205	ENSP00000217320:C205Y	ENSP00000217320:C205Y	C	+	2	0	C20orf118	34951169	0.500000	0.26091	0.989000	0.46669	0.120000	0.20174	0.663000	0.25053	0.607000	0.29982	-0.137000	0.14449	TGC	TLDC2	-	pfam_TLDc,smart_TLDc	ENSG00000101342		0.627	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TLDC2	HGNC	protein_coding	OTTHUMT00000079060.2	-	0	72	0	G	NM_080628		35517755	1	tier1	-	no_errors	ENST00000217320	ensembl	human	known	74_37	missense	5.26	90	5	SNP	0.956	A	A	35517755	G	A	35517755	3	1	128	1	0	0	0	0	1	0	0	0	2091	1319	46	3	636	3	C20orf118	20	35517755	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	12487980	35517755	27507765	108	33051											
TP53TG5	27296	genome.wustl.edu	37	chr20	44004158	44004158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatctcctggaactcttcatTattttgttttgttttattgc	6	22	6	7	0	3	0	1	0	2	0	4	2	3	1	1	1	2	2	1	1	3	9	rs562359566|rs76663890|rs10546815	byFrequency	TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:44004158T>C	ENST00000372726.3	-	4	445	c.289A>G	c.(289-291)Aat>Gat	p.N97D	SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000537995.1_Missense_Mutation_p.N81D|TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	97					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						AACTCTTCATTATTTTGTTTT	0.493																																																	0													65	37	46					20																	44004158		2179	4104	6283	SO:0001583	missense	0			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.289A>G	20.37:g.44004158T>C	ENSP00000361811:p.Asn97Asp			Missense_Mutation	SNP	NULL	p.N97D	ENST00000372726.3	37	c.289	CCDS13352.1	20	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688512	0.29962	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.15603	2.41;2.41	4.26	-0.689	0.11313	.	0.985537	0.08305	N	0.966325	T	0.11707	0.0285	L	0.34521	1.04	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.35968	-0.9767	10	0.45353	T	0.12	0.0023	4.23	0.10599	0.0:0.19:0.3451:0.4649	.	97	Q9Y2B4	T53G5_HUMAN	D	97;81	ENSP00000361811:N97D;ENSP00000438374:N81D	ENSP00000361811:N97D	N	-	1	0	TP53TG5	43437572	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.373000	0.07494	-0.143000	0.11334	-0.313000	0.08912	AAT	TP53TG5	-	NULL	ENSG00000124251		0.493	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG5	HGNC	protein_coding	OTTHUMT00000079460.1		0	25	0	T	NM_014477		44004158	-1			no_errors	ENST00000372726	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	C	C	44004158	T	C	44004158	3	2	128	1	0	0	0	0	1	0	0	0	16439	1754	61	4	591	4	TP53TG5	20	44004158	Missense_Mutation	SNP	T	TCGA-LN-A7HZ-01A-31D-A351-09	8486403	44004158	19021362	109	33052											
COL20A1	57642	genome.wustl.edu	37	chr20	61947988	61947988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatggagccctctgccttcGgtgggaccccgaccttcacg	5	8	11	17	3	2	0	1	0	1	0	3	3	2	2	6	3	2	0	6	3	0	2	rs376634286		TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr20:61947988G>T	ENST00000358894.6	+	21	2708	c.2608G>T	c.(2608-2610)Ggt>Tgt	p.G870C	COL20A1_ENST00000422202.1_Missense_Mutation_p.G877C|COL20A1_ENST00000326996.6_Missense_Mutation_p.G870C|COL20A1_ENST00000435874.1_Missense_Mutation_p.G877C	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	870	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)					CTCTGCCTTCGGTGGGACCCC	0.647																																																	0													27	31	30					20																	61947988		2012	4143	6155	SO:0001583	missense	0			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.2608G>T	20.37:g.61947988G>T	ENSP00000351767:p.Gly870Cys		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G870C	ENST00000358894.6	37	c.2608	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191585	0.38707	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.02552	4.25;4.25;4.25;4.25	4.22	3.13	0.36017	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.168436	0.50627	D	0.000119	T	0.07728	0.0194	L	0.53249	1.67	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.942	T	0.13980	-1.0489	10	0.59425	D	0.04	.	3.2282	0.06739	0.1862:0.28:0.5338:0.0	.	877;870	Q9P218-2;Q9P218	.;COKA1_HUMAN	C	870;870;877;877	ENSP00000351767:G870C;ENSP00000323077:G870C;ENSP00000408690:G877C;ENSP00000414753:G877C	ENSP00000323077:G870C	G	+	1	0	COL20A1	61418433	0.775000	0.28604	0.019000	0.16419	0.369000	0.29798	2.278000	0.43426	1.922000	0.55676	0.289000	0.19496	GGT	COL20A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000101203		0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	-	0	85	0	G	NM_020882		61947988	1	tier1	-	no_errors	ENST00000326996	ensembl	human	known	74_37	missense	33.33	52	26	SNP	0.015	T	T	61947988	G	T	61947988	3	4	128	1	0	0	0	0	1	0	0	0	3686	1116	39	2	2686	2	COL20A1	20	61947988	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09	17943830	61947988	1077532	110	33053											
DSCAM	1826	genome.wustl.edu	37	chr21	41414321	41414321	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gccgatgtgcctttggaactGccatattcattactcttcct	7	15	7	12	1	2	0	1	0	1	0	3	2	3	1	4	1	4	0	4	1	3	5			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chr21:41414321G>A	ENST00000400454.1	-	32	6140	c.5663C>T	c.(5662-5664)gCa>gTa	p.A1888V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1888					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)				CTTTGGAACTGCCATATTCAT	0.572																																					Melanoma(134;970 1778 1785 21664 32388)												0													71	71	71					21																	41414321		2010	4153	6163	SO:0001583	missense	0			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.5663C>T	21.37:g.41414321G>A	ENSP00000383303:p.Ala1888Val		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A1888V	ENST00000400454.1	37	c.5663	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	g	34	5.342163	0.95783	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.68181	-0.31;-0.14	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75686	0.3883	L	0.32530	0.975	0.58432	D	0.999994	D	0.69078	0.997	D	0.75020	0.985	T	0.78001	-0.2375	10	0.87932	D	0	.	19.4658	0.94939	0.0:0.0:1.0:0.0	.	1888	O60469	DSCAM_HUMAN	V	1888;1640	ENSP00000383303:A1888V;ENSP00000385342:A1640V	ENSP00000383303:A1888V	A	-	2	0	DSCAM	40336191	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	9.751000	0.98889	2.599000	0.87857	0.655000	0.94253	GCA	DSCAM	-	NULL	ENSG00000171587		0.572	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0	37	0	G	NM_001389		41414321	-1	tier1	-	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	64.86	13	24	SNP	1.000	A	A	41414321	G	A	41414321	3	1	128	1	0	0	0	0	1	0	0	0	4782	1319	46	3	383	3	DSCAM	21	41414321	Missense_Mutation	SNP	G	TCGA-LN-A7HZ-01A-31D-A351-09		41414321	6715574	111	33054											
IL9R	3581	genome.wustl.edu	37	chrX	155239804	155239804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagagggcagcaggagcagCagcagcagcagcagcagcaa	14	1	15	11	0	1	1	1	0	0	1	1	2	1	2	0	2	9	10	0	2	1	0			TCGA-LN-A7HZ-01A-31D-A351-09	TCGA-LN-A7HZ-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a12a7c6-72e4-4d26-9c62-36662e8d831e	59e232d0-2d74-4784-ad67-5d92de200106	g.chrX:155239804C>G	ENST00000244174.5	+	9	1475	c.1296C>G	c.(1294-1296)agC>agG	p.S432R	IL9R_ENST00000424344.3_Missense_Mutation_p.S411R|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	432	Poly-Ser.				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)					gcaggagcagcagcagcagca	0.627																																																	0													17	27	24					X																	155239804		2201	4295	6496	SO:0001583	missense	0			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.1296C>G	X.37:g.155239804C>G	ENSP00000244174:p.Ser432Arg		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S432R	ENST00000244174.5	37	c.1296	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	c	9.402	1.078258	0.20227	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10860	2.83;2.83	0.195	0.195	0.15151	.	3.852910	0.00870	N	0.002015	T	0.14356	0.0347	.	.	.	0.09310	N	1	P	0.42518	0.782	P	0.46110	0.504	T	0.20806	-1.0264	8	0.48119	T	0.1	-15.0951	.	.	.	.	432	Q01113	IL9R_HUMAN	R	432;411	ENSP00000244174:S432R;ENSP00000388918:S411R	ENSP00000244174:S432R	S	+	3	2	IL9R	154892998	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	-0.363000	0.07593	0.283000	0.22279	0.287000	0.19450	AGC	IL9R	-	NULL	ENSG00000124334		0.627	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	-	0	100	0	C	NM_002186		155239804	1	tier1	-	no_errors	ENST00000244174	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.005	G	G	155239804	C	G	155239804	3	3	128	1	0	0	0	0	1	0	0	0	7735	709	25	5	1330	5	IL9R	23	155239804	Missense_Mutation	SNP	C	TCGA-LN-A7HZ-01A-31D-A351-09		155239804	30756	112	33055											
CAMTA1	23261	genome.wustl.edu	37	chr1	7798315	7798315	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctggatctcagcctgtaGgaaagtggaattccaaagat	12	10	10	9	0	2	1	1	0	2	1	4	4	3	4	3	3	1	1	3	3	4	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:7798315G>T	ENST00000303635.7	+	16	4162	c.3955G>T	c.(3955-3957)Gga>Tga	p.G1319*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.G1319*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1319					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)		TCAGCCTGTAGGAAAGTGGAA	0.527			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													48	52	51					1																	7798315		2203	4300	6503	SO:0001587	stop_gained	0			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.3955G>T	1.37:g.7798315G>T	ENSP00000306522:p.Gly1319*		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Nonsense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.G1319*	ENST00000303635.7	37	c.3955	CCDS30576.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.002881|11.002881	0.99501|0.99501	.|.	.|.	ENSG00000171735|ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646|ENST00000495233	.|.	.|.	.|.	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	0.514990|.	0.19919|.	N|.	0.103139|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.20046|.	T|.	0.44|.	-0.4691|-0.4691	5.6277|5.6277	0.17492|0.17492	0.131:0.1984:0.6706:0.0|0.131:0.1984:0.6706:0.0	.|.	.|.	.|.	.|.	X|Y	1319;1319;406;275|275	.|.	ENSP00000306522:G1319X|.	G|X	+|+	1|3	0|2	CAMTA1|CAMTA1	7720902|7720902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	2.770000|2.770000	0.47662|0.47662	2.320000|2.320000	0.78422|0.78422	0.655000|0.655000	0.94253|0.94253	GGA|TAG	CAMTA1	-	NULL	ENSG00000171735		0.527	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	-	0	22	0	G	NM_015215		7798315	1	tier1	-	no_errors	ENST00000303635	ensembl	human	known	74_37	nonsense	25.00	9	3	SNP	1.000	T	T	7798315	G	T	7798315	4	4	129	1	0	0	0	0	0	1	0	0	2620	1001	35	3	4017	3	CAMTA1	1	7798315	Nonsense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09		7798315	241452306	1	33056											
PRAMEF2	65122	genome.wustl.edu	37	chr1	12919952	12919952	+	Missense_Mutation	SNP	T	T	A	0	1	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	ttattgttacctgaaggagaTgaagactctttgcaaactcg	12	13	9	7	1	1	4	0	2	1	2	2	5	1	4	1	1	3	2	1	1	5	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:12919952T>A	ENST00000240189.2	+	3	779	c.692T>A	c.(691-693)aTg>aAg	p.M231K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	231					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)		CTGAAGGAGATGAAGACTCTT	0.408																																																	0													109	114	112					1																	12919952		2203	4299	6502	SO:0001583	missense	0				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.692T>A	1.37:g.12919952T>A	ENSP00000240189:p.Met231Lys			Missense_Mutation	SNP	NULL	p.M231K	ENST00000240189.2	37	c.692	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.658586	0.29515	.	.	ENSG00000120952	ENST00000240189	T	0.01005	5.45	0.842	0.842	0.18927	.	0.114832	0.64402	D	0.000013	T	0.04724	0.0128	M	0.90483	3.12	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.14952	-1.0454	10	0.87932	D	0	.	3.9732	0.09462	0.0:0.0:0.0:1.0	.	231	O60811	PRAM2_HUMAN	K	231	ENSP00000240189:M231K	ENSP00000240189:M231K	M	+	2	0	PRAMEF2	12842539	0.011000	0.17503	0.034000	0.17996	0.065000	0.16274	0.062000	0.14389	0.633000	0.30452	0.163000	0.16589	ATG	PRAMEF2	-	NULL	ENSG00000120952		0.408	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	-	0	359	0	T	NM_023014		12919952	1	tier1	-	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	5.62	168	10	SNP	0.041	A	A	12919952	T	A	12919952	3	1	129	1	0	0	0	0	1	0	0	0	12477	1464	51	5	698	5	PRAMEF2	1	12919952	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	5121637	12919952	236330669	2	33057											
CDCA8	55143	genome.wustl.edu	37	chr1	38164611	38164611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgaaataaacaaactaaCagcagaagctattcagacac	20	5	5	11	1	1	2	1	0	0	2	1	3	1	2	1	0	5	2	1	0	7	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:38164611C>T	ENST00000373055.1	+	4	572	c.299C>T	c.(298-300)aCa>aTa	p.T100I	CDCA8_ENST00000327331.2_Missense_Mutation_p.T100I	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	100	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)				AACAAACTAACAGCAGAAGCT	0.418																																																	0													93	89	90					1																	38164611		2203	4300	6503	SO:0001583	missense	0			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.299C>T	1.37:g.38164611C>T	ENSP00000362146:p.Thr100Ile		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	pfam_Cell_div_borealin,pfam_Borealin-like_N	p.T100I	ENST00000373055.1	37	c.299	CCDS424.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071747	0.76301	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.49432	0.78;0.78	5.26	5.26	0.73747	.	0.173853	0.52532	D	0.000067	T	0.65396	0.2687	M	0.64997	1.995	0.43512	D	0.995774	D	0.71674	0.998	D	0.76071	0.987	T	0.67868	-0.5559	10	0.72032	D	0.01	-17.1588	14.3501	0.66694	0.0:1.0:0.0:0.0	.	100	Q53HL2	BOREA_HUMAN	I	100	ENSP00000362146:T100I;ENSP00000316121:T100I	ENSP00000316121:T100I	T	+	2	0	CDCA8	37937198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.865000	0.56033	2.468000	0.83385	0.655000	0.94253	ACA	CDCA8	-	NULL	ENSG00000134690		0.418	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA8	HGNC	protein_coding	OTTHUMT00000012473.1	-	0	63	0	C	NM_018101		38164611	1	tier1	-	no_errors	ENST00000327331	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	38164611	C	T	38164611	3	4	129	1	0	0	0	0	1	0	0	0	3099	478	17	3	313	3	CDCA8	1	38164611	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	25244659	38164611	211086010	3	33058											
PTCH2	8643	genome.wustl.edu	37	chr1	45293815	45293815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccactggtactgtcccGtcccccagctcctggggcag	5	8	11	17	1	0	0	0	0	0	0	3	0	3	0	5	3	3	3	5	3	1	1	rs368278021		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:45293815G>T	ENST00000372192.3	-	14	1888	c.1758C>A	c.(1756-1758)gaC>gaA	p.D586E	PTCH2_ENST00000447098.2_Missense_Mutation_p.D586E	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	586					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.D586D(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GTACTGTCCCGTCCCCCAGCT	0.587									Basal Cell Nevus syndrome																																								1	Substitution - coding silent(1)	cervix(1)											69	74	72					1																	45293815		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1758C>A	1.37:g.45293815G>T	ENSP00000361266:p.Asp586Glu		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.D586E	ENST00000372192.3	37	c.1758	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	G	1.217	-0.628045	0.03610	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92348	-3.01;-3.02	5.04	-10.1	0.00402	.	0.391902	0.21661	N	0.071019	T	0.77267	0.4105	N	0.22421	0.69	0.19945	N	0.99994	B;B	0.06786	0.001;0.0	B;B	0.13407	0.009;0.005	T	0.64613	-0.6366	10	0.19147	T	0.46	-5.6378	5.5739	0.17212	0.2596:0.2434:0.4205:0.0764	.	586;586	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	E	586	ENSP00000389703:D586E;ENSP00000361266:D586E	ENSP00000361266:D586E	D	-	3	2	PTCH2	45066402	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-3.820000	0.00358	-1.945000	0.01036	-0.484000	0.04775	GAC	PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000117425		0.587	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4		0	49	0	G	NM_003738		45293815	-1			no_errors	ENST00000372192	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.000	T	T	45293815	G	T	45293815	3	4	129	1	0	0	0	0	1	0	0	0	12773	1136	40	2	1909	2	PTCH2	1	45293815	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	7129204	45293815	203956806	4	33059											
ABCA4	24	genome.wustl.edu	37	chr1	94497396	94497396	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcttgaccagcagcgcctGcacatgctggaggaccagct	8	8	11	14	1	1	1	0	1	1	0	2	3	1	3	3	2	5	4	3	2	0	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:94497396G>A	ENST00000370225.3	-	27	4152	c.4066C>T	c.(4066-4068)Cag>Tag	p.Q1356*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1356					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)	p.Q1356*(1)		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)		AGCAGCGCCTGCACATGCTGG	0.642																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											83	77	79					1																	94497396		2203	4300	6503	SO:0001587	stop_gained	0			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.4066C>T	1.37:g.94497396G>A	ENSP00000359245:p.Gln1356*		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.Q1356*	ENST00000370225.3	37	c.4066	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.314171	0.99133	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	.	.	.	5.78	4.85	0.62838	.	0.705821	0.13727	N	0.366984	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	9.6255	0.39748	0.0:0.1153:0.6134:0.2712	.	.	.	.	X	148;1356	.	ENSP00000359245:Q1356X	Q	-	1	0	ABCA4	94269984	1.000000	0.71417	0.997000	0.53966	0.408000	0.30992	2.438000	0.44837	1.409000	0.46915	0.650000	0.86243	CAG	ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.642	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1		0	110	0	G	NM_000350		94497396	-1			no_errors	ENST00000370225	ensembl	human	known	74_37	nonsense	6.25	45	3	SNP	0.923	A	A	94497396	G	A	94497396	4	1	129	1	0	0	0	0	0	1	0	0	34	1328	46	3	2851	3	ABCA4	1	94497396	Nonsense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	49203581	94497396	154753225	5	33060											
ADAM30	11085	genome.wustl.edu	37	chr1	120438560	120438560	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaatgttaaatacacctcGgagaccccccatgcatgtgc	12	9	7	13	1	1	1	1	0	0	1	2	2	1	1	4	1	3	2	4	1	4	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:120438560G>T	ENST00000369400.1	-	1	558	c.400C>A	c.(400-402)Cga>Aga	p.R134R		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	134					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATACACCTCGGAGACCCCCC	0.463																																																	0													82	87	85					1																	120438560		2203	4300	6503	SO:0001819	synonymous_variant	0			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.400C>A	1.37:g.120438560G>T			A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R134	ENST00000369400.1	37	c.400	CCDS907.1	1																																																																																			ADAM30	-	pfam_Peptidase_M12B_N	ENSG00000134249		0.463	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	HGNC	protein_coding	OTTHUMT00000033678.1	-	0	62	0	G	NM_021794		120438560	-1	tier1	-	no_errors	ENST00000369400	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.882	T	T	120438560	G	T	120438560	2	4	129	1	0	0	0	0	0	0	0	1	248	1124	39	2		2	ADAM30	1	120438560	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	25941164	120438560	128812061	6	33061											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144917554	144917554	+	Missense_Mutation	SNP	T	T	A	0	1	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	gcagtctctctaagtcatgaTctcgctctctcacagcaaga	10	11	7	13	1	6	2	2	1	4	1	9	2	6	2	0	0	1	3	0	0	2	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:144917554T>A	ENST00000369354.3	-	12	1739	c.1550A>T	c.(1549-1551)gAt>gTt	p.D517V	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.D304V|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.D517V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D583V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.D680V|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.D517V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D517V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.D654V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D654V|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.D680V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	517					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)		TAAGTCATGATCTCGCTCTCT	0.468			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													327	312	317					1																	144917554		2203	4296	6499	SO:0001583	missense	0			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.1550A>T	1.37:g.144917554T>A	ENSP00000358360:p.Asp517Val		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.D517V	ENST00000369354.3	37	c.1550	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.898615	0.91962	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.14893	4.47;4.56;4.56;4.56;4.55;3.56;3.57;2.53;2.53;2.47	6.04	6.04	0.98038	.	.	.	.	.	T	0.27098	0.0664	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.993;0.999	D;D;D;D;P;D	0.73708	0.948;0.911;0.974;0.966;0.895;0.981	T	0.01824	-1.1266	9	0.87932	D	0	.	14.5796	0.68278	0.0:0.0:0.0:1.0	.	680;304;517;680;583;517	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	V	583;517;517;680;654;654;517;517;680;680;304	ENSP00000327209:D583V;ENSP00000358360:D517V;ENSP00000358363:D517V;ENSP00000435654:D654V;ENSP00000358366:D654V;ENSP00000358357:D517V;ENSP00000358355:D517V;ENSP00000316434:D680V;ENSP00000433392:D680V;ENSP00000436791:D304V	ENSP00000327209:D583V	D	-	2	0	PDE4DIP	143628911	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	3.191000	0.50981	2.330000	0.79161	0.529000	0.55759	GAT	PDE4DIP	-	NULL	ENSG00000178104		0.468	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0	79	0	T	NM_022359		144917554	-1	tier1	-	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	A	A	144917554	T	A	144917554	3	1	129	1	0	0	0	0	1	0	0	0	11682	1435	50	5	5632	5	PDE4DIP	1	144917554	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	24478994	144917554	104333067	7	33062											
HRNR	388697	genome.wustl.edu	37	chr1	152185648	152185648	+	Missense_Mutation	SNP	A	A	C	1	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	gagccagaacttcccccatcAtggttacttcctcctttgca	8	12	6	15	0	1	1	1	0	0	1	4	2	4	1	5	1	4	2	5	1	2	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:152185648A>C	ENST00000368801.2	-	3	8532	c.8457T>G	c.(8455-8457)caT>caG	p.H2819Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2819					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)			TTCCCCCATCATGGTTACTTC	0.453																																																	0													77	79	79					1																	152185648		2203	4300	6503	SO:0001583	missense	0			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.8457T>G	1.37:g.152185648A>C	ENSP00000357791:p.His2819Gln		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.H2819Q	ENST00000368801.2	37	c.8457	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	A	8.752	0.921547	0.17982	.	.	ENSG00000197915	ENST00000368801	T	0.01918	4.56	4.56	4.56	0.56223	.	.	.	.	.	T	0.00666	0.0022	N	0.19112	0.55	0.09310	N	1	B	0.19331	0.035	B	0.04013	0.001	T	0.47849	-0.9085	9	0.21014	T	0.42	.	10.4848	0.44715	1.0:0.0:0.0:0.0	.	2819	Q86YZ3	HORN_HUMAN	Q	2819	ENSP00000357791:H2819Q	ENSP00000357791:H2819Q	H	-	3	2	HRNR	150452272	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.606000	0.24194	2.029000	0.59856	0.459000	0.35465	CAT	HRNR	-	NULL	ENSG00000197915		0.453	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1		0	117	0	A	XM_373868		152185648	-1			no_errors	ENST00000368801	ensembl	human	known	74_37	missense	6.10	77	5	SNP	0.003	C	C	152185648	A	C	152185648	3	2	129	1	0	0	0	0	1	0	0	0	7386	214	8	4	99	4	HRNR	1	152185648	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	7268094	152185648	97064973	8	33063											
FLG	2312	genome.wustl.edu	37	chr1	152281918	152281918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctgcttgaccctgggtgtCcacgaatggtgtcctgaccc	5	11	11	14	1	1	2	0	2	1	0	3	3	3	2	4	2	1	1	4	2	1	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:152281918C>T	ENST00000368799.1	-	3	5479	c.5444G>A	c.(5443-5445)gGa>gAa	p.G1815E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1815	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)			CCCTGGGTGTCCACGAATGGT	0.592									Ichthyosis																																								0													356	362	360					1																	152281918		2203	4300	6503	SO:0001583	missense	0	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.5444G>A	1.37:g.152281918C>T	ENSP00000357789:p.Gly1815Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G1815E	ENST00000368799.1	37	c.5444	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	c	4.048	0.006616	0.07866	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.07567	3.18	3.25	-0.093	0.13652	.	.	.	.	.	T	0.03695	0.0105	M	0.81239	2.535	0.09310	N	1	B	0.17667	0.023	B	0.20184	0.028	T	0.40079	-0.9582	9	0.72032	D	0.01	.	1.6968	0.02863	0.2123:0.4546:0.2072:0.1259	.	1815	P20930	FILA_HUMAN	E	1815;50	ENSP00000357789:G1815E	ENSP00000271820:G50E	G	-	2	0	FLG	150548542	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.083000	0.03397	0.231000	0.21079	-0.363000	0.07495	GGA	FLG	-	NULL	ENSG00000143631		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	212	0	C	NM_002016		152281918	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	6.94	133	10	SNP	0.000	T	T	152281918	C	T	152281918	3	4	129	1	0	0	0	0	1	0	0	0	5944	855	30	3	6745	3	FLG	1	152281918	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	96270	152281918	96968703	9	33064											
DAP3	7818	genome.wustl.edu	37	chr1	155707999	155708000	+	Frame_Shift_Ins	INS	-	-	CT																															ttcctaagtaacgcgaacccINSctcgctgctggagcggcact																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:155707999_155708000insCT	ENST00000368336.5	+	13	1287_1288	c.1163_1164insCT	c.(1162-1167)ccctcgfs	p.PS388fs	DAP3_ENST00000421487.2_Frame_Shift_Ins_p.PS354fs|DAP3_ENST00000343043.3_Frame_Shift_Ins_p.PS388fs|DAP3_ENST00000471642.2_Frame_Shift_Ins_p.PS347fs|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Frame_Shift_Ins_p.PS347fs	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	388					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AACGCGAACCCCTCGCTGCTGG	0.505																																																	0																																										SO:0001589	frameshift_variant	0			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.1164_1165dupCT	1.37:g.155708000_155708001dupCT	ENSP00000357320:p.Pro388fs		B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Frame_Shift_Ins	INS	pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit	p.L390fs	ENST00000368336.5	37	c.1163_1164	CCDS1120.1	1																																																																																			DAP3	-	pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase	ENSG00000132676		0.505	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1		0	74	0	-	NM_004632		155708000	1	tier1		no_errors	ENST00000343043	ensembl	human	known	74_37	frame_shift_ins	32.00	34	16	INS	0.997:0.107	CT	CT	155708000	-	CT	155707999	7	5	129	1	0	1	1	0	0	0	0	0	4243	623	22	0	1209	0	DAP3	1	155707999	Frame_Shift_Ins	INS	-	TCGA-LN-A8HZ-01A-11D-A36J-09	3426081	155707999	93542622	10	33065											
CD1A	909	genome.wustl.edu	37	chr1	158225961	158225961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcatttctgcaaagtgCtcaatcagaatcagcatgaa	15	9	7	10	0	4	2	3	1	1	1	4	2	4	2	1	0	4	4	1	0	5	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:158225961C>A	ENST00000289429.5	+	3	1026	c.493C>A	c.(493-495)Ctc>Atc	p.L165I		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	165					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)	CTGCAAAGTGCTCAATCAGAA	0.443																																																	0													138	116	123					1																	158225961		2203	4300	6503	SO:0001583	missense	0			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.493C>A	1.37:g.158225961C>A	ENSP00000289429:p.Leu165Ile		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L165I	ENST00000289429.5	37	c.493	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	c	3.561	-0.089653	0.07053	.	.	ENSG00000158477	ENST00000289429	T	0.08008	3.14	4.15	-1.74	0.08056	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.073720	0.07423	N	0.894304	T	0.01222	0.0040	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.18871	0.023	T	0.49173	-0.8967	10	0.24483	T	0.36	-8.4678	2.6142	0.04899	0.3573:0.2602:0.0:0.3825	.	165	P06126	CD1A_HUMAN	I	165	ENSP00000289429:L165I	ENSP00000289429:L165I	L	+	1	0	CD1A	156492585	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.674000	0.00842	-0.594000	0.05836	-2.528000	0.00182	CTC	CD1A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000158477		0.443	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	-	0	56	0	C	NM_001763		158225961	1	tier1	-	no_errors	ENST00000289429	ensembl	human	known	74_37	missense	36.36	28	16	SNP	0.000	A	A	158225961	C	A	158225961	3	1	129	1	0	0	0	0	1	0	0	0	2981	797	28	3	503	3	CD1A	1	158225961	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	2517962	158225961	91024660	11	33066											
OR6K6	128371	genome.wustl.edu	37	chr1	158724854	158724854	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccaggtgggcatggccctGcacacccctttgtatttctt	6	13	9	13	0	1	0	0	0	1	0	2	0	2	0	4	3	1	3	4	3	1	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:158724854G>A	ENST00000368144.2	+	1	345	c.249G>A	c.(247-249)ctG>ctA	p.L83L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	83						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)					GCATGGCCCTGCACACCCCTT	0.468																																																	0													167	166	166					1																	158724854		2203	4300	6503	SO:0001819	synonymous_variant	0			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.249G>A	1.37:g.158724854G>A			B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L83	ENST00000368144.2	37	c.249	CCDS30904.1	1																																																																																			OR6K6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180433		0.468	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	-	0	78	0	G	NM_001005184		158724854	1	tier1	-	no_errors	ENST00000368144	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.209	A	A	158724854	G	A	158724854	2	1	129	1	0	0	0	0	0	0	0	1	11243	1306	46	3		3	OR6K6	1	158724854	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	498893	158724854	90525767	12	33067											
CACNA1E	777	genome.wustl.edu	37	chr1	181765953	181765953	+	Missense_Mutation	SNP	A	A	G	1	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	ccccagagcgccgtcaatccAggtcacccagtgagggcagg	9	4	13	15	2	2	2	2	1	0	1	3	2	3	2	5	3	1	1	5	3	1	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:181765953A>G	ENST00000367573.2	+	47	6358	c.6358A>G	c.(6358-6360)Agg>Ggg	p.R2120G	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2077G|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R2058G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2009G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2071G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2101G|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1684G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2120					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						CCGTCAATCCAGGTCACCCAG	0.587																																																	0													23	26	25					1																	181765953		2035	4187	6222	SO:0001583	missense	0			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.6358A>G	1.37:g.181765953A>G	ENSP00000356545:p.Arg2120Gly		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R2120G	ENST00000367573.2	37	c.6358	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168690	0.57584	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97430	-4.29;-4.28;-4.11;-4.28;-4.38;-4.11;-4.11	5.91	0.615	0.17608	.	0.285662	0.37219	N	0.002193	D	0.95784	0.8628	L	0.39245	1.2	0.45035	D	0.99805	P;D	0.56521	0.763;0.976	B;P	0.51615	0.21;0.675	D	0.94086	0.7348	10	0.56958	D	0.05	.	15.3831	0.74676	0.3819:0.6181:0.0:0.0	.	2058;2077	Q15878-2;Q15878-3	.;.	G	2077;2058;2071;2009;1684;2101;2120	ENSP00000356542:R2077G;ENSP00000434814:R2058G;ENSP00000350183:R2071G;ENSP00000351101:R2009G;ENSP00000356539:R1684G;ENSP00000353222:R2101G;ENSP00000356545:R2120G	ENSP00000350183:R2071G	R	+	1	2	CACNA1E	180032576	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.160000	0.31761	0.123000	0.18342	0.533000	0.62120	AGG	CACNA1E	-	NULL	ENSG00000198216		0.587	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	42	0	A	NM_000721		181765953	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.999	G	G	181765953	A	G	181765953	3	3	129	1	0	0	0	0	1	0	0	0	2549	179	7	4	6411	4	CACNA1E	1	181765953	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	23041099	181765953	67484668	13	33068											
HMCN1	83872	genome.wustl.edu	37	chr1	186113436	186113436	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctactgtgatggagcaGaaacacagatgcaagtttgc	12	9	12	8	0	0	3	0	1	0	2	1	4	1	4	1	2	5	3	1	2	3	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:186113436G>T	ENST00000271588.4	+	90	14285	c.14056G>T	c.(14056-14058)Gaa>Taa	p.E4686*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E4686*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4686	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGATGGAGCAGAAACACAGAT	0.403																																																	0													141	144	143					1																	186113436		2203	4300	6503	SO:0001587	stop_gained	0			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.14056G>T	1.37:g.186113436G>T	ENSP00000271588:p.Glu4686*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.E4686*	ENST00000271588.4	37	c.14056	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	55	24.799490	0.99962	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.72	5.72	0.89469	.	0.044474	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.8788	0.96888	0.0:0.0:1.0:0.0	.	.	.	.	X	4686	.	ENSP00000271588:E4686X	E	+	1	0	HMCN1	184380059	1.000000	0.71417	0.982000	0.44146	0.533000	0.34776	7.326000	0.79133	2.708000	0.92522	0.650000	0.86243	GAA	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	99	0	G	NM_031935		186113436	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	nonsense	12.05	73	10	SNP	1.000	T	T	186113436	G	T	186113436	4	4	129	1	0	0	0	0	0	1	0	0	7247	943	33	3	14414	3	HMCN1	1	186113436	Nonsense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	4347483	186113436	63137185	14	33069											
TPR	7175	genome.wustl.edu	37	chr1	186324664	186324664	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattttctgctttttctttTttgtagttctcaaaaatttc	7	24	3	7	0	4	0	2	0	3	0	6	0	4	0	0	0	1	3	0	0	3	10			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:186324664T>A	ENST00000367478.4	-	17	2345	c.2049A>T	c.(2047-2049)aaA>aaT	p.K683N	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	683					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)		CTTTTTCTTTTTTGTAGTTCT	0.328			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													86	77	80					1																	186324664		1793	4068	5861	SO:0001583	missense	0			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.2049A>T	1.37:g.186324664T>A	ENSP00000356448:p.Lys683Asn		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.K683N	ENST00000367478.4	37	c.2049	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.746965	0.69418	.	.	ENSG00000047410	ENST00000367478	T	0.18810	2.19	5.22	2.92	0.33932	.	0.047201	0.85682	D	0.000000	T	0.38268	0.1034	M	0.72894	2.215	0.45216	D	0.998227	D	0.76494	0.999	D	0.64144	0.922	T	0.17198	-1.0377	10	0.72032	D	0.01	.	8.2293	0.31589	0.0:0.2245:0.0:0.7755	.	683	P12270	TPR_HUMAN	N	683	ENSP00000356448:K683N	ENSP00000356448:K683N	K	-	3	2	TPR	184591287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.996000	0.29719	0.956000	0.37904	0.482000	0.46254	AAA	TPR	-	NULL	ENSG00000047410		0.328	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	-	0	88	0	T	NM_003292		186324664	-1	tier1	-	no_errors	ENST00000367478	ensembl	human	known	74_37	missense	51.43	34	36	SNP	1.000	A	A	186324664	T	A	186324664	3	1	129	1	0	0	0	0	1	0	0	0	16464	1838	64	5	5182	5	TPR	1	186324664	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	211228	186324664	62925957	15	33070											
NAV1	89796	genome.wustl.edu	37	chr1	201617946	201617948	+	In_Frame_Del	DEL	CGG	CGG	-																															cccaagcgcgccaaggcgccCggcggcggcggcggcatggc																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	CGG	CGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:201617946_201617948delCGG	ENST00000367296.4	+	1	570_572	c.150_152delCGG	c.(148-153)cccggc>ccc	p.G55del	NAV1_ENST00000367297.4_In_Frame_Del_p.G55del|NAV1_ENST00000367302.1_In_Frame_Del_p.G68del|NAV1_ENST00000295624.6_In_Frame_Del_p.G55del|NAV1_ENST00000367300.3_In_Frame_Del_p.G55del	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	55					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						ccaaggcgcccggcggcggcggc	0.783																																																	0										18,6,2494		4,0,10,1,4,1240						4.7	1			5	32,88,5370		3,0,26,19,50,2647	no	codingComplex	NAV1	NM_020443.4		7,0,36,20,54,3887	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1858,0.9531,1.7982				50,94,7864				SO:0001651	inframe_deletion	0			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.150_152delCGG	1.37:g.201617955_201617957delCGG	ENSP00000356265:p.Gly55del		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	In_Frame_Del	DEL	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G54in_frame_del	ENST00000367296.4	37	c.150_152	CCDS1414.2	1																																																																																			NAV1	-	NULL	ENSG00000134369		0.783	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1		0	22	0	CGG	NM_020443		201617948	1	tier1		no_errors	ENST00000367296	ensembl	human	known	74_37	in_frame_del	28.57	5	2	DEL	0.545:0.955:0.994	-	-	201617948	CGG	-	201617946	7	5	129	1	0	1	0	1	0	0	0	0	10221	639	23	0	152	0	NAV1	1	201617946	In_Frame_Del	DEL	CGG	TCGA-LN-A8HZ-01A-11D-A36J-09	15293282	201617946	47632675	16	33071											
USH2A	7399	genome.wustl.edu	37	chr1	216052369	216052369	+	Silent	SNP	G	G	A	0	0	1	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	gtcacattggttaaagtgatGtgagggtcaggcatgtgaat	11	12	14	4	0	2	3	2	3	0	0	2	3	2	3	0	3	0	2	0	3	3	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:216052369G>A	ENST00000307340.3	-	42	8681	c.8295C>T	c.(8293-8295)caC>caT	p.H2765H	USH2A_ENST00000366943.2_Silent_p.H2765H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2765	Fibronectin type-III 14. {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)		TTAAAGTGATGTGAGGGTCAG	0.413										HNSCC(13;0.011)																																							0													161	160	161					1																	216052369		2203	4300	6503	SO:0001819	synonymous_variant	0			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.8295C>T	1.37:g.216052369G>A			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.H2765	ENST00000307340.3	37	c.8295	CCDS31025.1	1																																																																																			USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	73	0	G	NM_007123		216052369	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	15.69	43	8	SNP	0.001	A	A	216052369	G	A	216052369	2	1	129	1	0	0	0	0	0	0	0	1	17085	1368	48	3		3	USH2A	1	216052369	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	14434423	216052369	33198252	17	33072											
GNPAT	8443	genome.wustl.edu	37	chr1	231403505	231403505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatggagcttctgcaaattGaaaacatggttttgagcccc	13	11	9	8	0	1	2	0	2	1	0	1	3	1	3	2	2	4	3	2	2	4	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:231403505G>C	ENST00000366647.4	+	9	1304	c.1135G>C	c.(1135-1137)Gaa>Caa	p.E379Q	GNPAT_ENST00000366646.3_Missense_Mutation_p.E318Q	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	379					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCTGCAAATTGAAAACATGGT	0.453																																																	0													121	114	116					1																	231403505		2203	4300	6503	SO:0001583	missense	0			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1135G>C	1.37:g.231403505G>C	ENSP00000355607:p.Glu379Gln		B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E379Q	ENST00000366647.4	37	c.1135	CCDS1592.1	1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468799	0.26335	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.65178	-0.14;-0.13;-0.13	5.09	3.23	0.37069	.	0.248012	0.40908	N	0.000994	T	0.45796	0.1360	N	0.26042	0.785	0.41689	D	0.989337	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.005	T	0.26258	-1.0108	10	0.33141	T	0.24	.	9.5711	0.39429	0.0852:0.1858:0.729:0.0	.	318;379	B4DNM9;O15228	.;GNPAT_HUMAN	Q	379;318;369	ENSP00000355607:E379Q;ENSP00000355606:E318Q;ENSP00000411640:E369Q	ENSP00000355606:E318Q	E	+	1	0	GNPAT	229470128	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.676000	0.54612	0.549000	0.28973	-0.216000	0.12614	GAA	GNPAT	-	NULL	ENSG00000116906		0.453	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	-	0	82	0	G			231403505	1	tier1	-	no_errors	ENST00000366647	ensembl	human	known	74_37	missense	45.83	39	33	SNP	1.000	C	C	231403505	G	C	231403505	3	2	129	1	0	0	0	0	1	0	0	0	6567	1291	45	5	1169	5	GNPAT	1	231403505	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	15351136	231403505	17847116	18	33073											
MYCN	4613	genome.wustl.edu	37	chr2	16085955	16085955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccccgaaactctgactcGgaggacagtgagcgtcgcag	10	5	13	13	4	1	2	0	2	1	0	3	5	1	4	2	2	3	1	2	2	1	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:16085955G>A	ENST00000281043.3	+	3	1428	c.1131G>A	c.(1129-1131)tcG>tcA	p.S377S		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	377					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			ACTCTGACTCGGAGGACAGTG	0.607			A		neuroblastoma																																			Dom	yes		2	2p24.1	4613	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"		O	0													57	60	59					2																	16085955		2202	4300	6502	SO:0001819	synonymous_variant	0			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1131G>A	2.37:g.16085955G>A			Q53XS5|Q6LDT9	Silent	SNP	pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.S377	ENST00000281043.3	37	c.1131	CCDS1687.1	2																																																																																			MYCN	-	superfamily_bHLH_dom,prints_Tscrpt_reg_Myc	ENSG00000134323		0.607	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCN	HGNC	protein_coding	OTTHUMT00000095469.2		0	33	0	G	NM_005378		16085955	1			no_errors	ENST00000281043	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.988	A	A	16085955	G	A	16085955	2	1	129	1	0	0	0	0	0	0	0	1	10059	1103	39	1		1	MYCN	2	16085955	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09		16085955	227113418	19	33074											
BIRC6	57448	genome.wustl.edu	37	chr2	32819095	32819095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgctgagatagtttatgCagccaccaccagtttgcggc	9	10	11	11	1	0	1	0	1	0	1	0	3	0	1	3	1	4	4	3	1	2	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:32819095C>T	ENST00000421745.2	+	67	13603	c.13469C>T	c.(13468-13470)gCa>gTa	p.A4490V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4490					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATAGTTTATGCAGCCACCACC	0.388																																					Pancreas(94;175 1509 16028 18060 45422)												0													74	73	73					2																	32819095		2203	4300	6503	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13469C>T	2.37:g.32819095C>T	ENSP00000393596:p.Ala4490Val		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.A4490V	ENST00000421745.2	37	c.13469	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330902	0.60853	.	.	ENSG00000115760	ENST00000421745	T	0.74632	-0.86	5.51	5.51	0.81932	.	0.172283	0.51477	D	0.000085	T	0.68760	0.3036	L	0.40543	1.245	0.51482	D	0.999922	B	0.16603	0.018	B	0.14023	0.01	T	0.62153	-0.6914	10	0.30078	T	0.28	.	19.4294	0.94758	0.0:1.0:0.0:0.0	.	4490	Q9NR09	BIRC6_HUMAN	V	4490	ENSP00000393596:A4490V	ENSP00000393596:A4490V	A	+	2	0	BIRC6	32672599	1.000000	0.71417	0.833000	0.33012	0.991000	0.79684	4.753000	0.62183	2.579000	0.87056	0.650000	0.86243	GCA	BIRC6	-	NULL	ENSG00000115760		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3		0	59	0	C	NM_016252		32819095	1			no_errors	ENST00000421745	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.937	T	T	32819095	C	T	32819095	3	4	129	1	0	0	0	0	1	0	0	0	1440	710	25	3	13735	3	BIRC6	2	32819095	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	16733140	32819095	210380278	20	33075											
PREPL	9581	genome.wustl.edu	37	chr2	44559740	44559740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gagagcaaagttgaaaggggCagttctttgggtcagaattt	12	11	14	4	0	2	3	1	1	1	2	2	4	2	3	0	3	1	4	0	3	3	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:44559740C>A	ENST00000409936.1	-	9	1648	c.1211G>T	c.(1210-1212)tGc>tTc	p.C404F	PREPL_ENST00000260648.6_Missense_Mutation_p.C404F|PREPL_ENST00000409411.1_Missense_Mutation_p.C315F|PREPL_ENST00000409957.1_Missense_Mutation_p.C315F|PREPL_ENST00000541738.1_Missense_Mutation_p.C315F|PREPL_ENST00000410081.1_Missense_Mutation_p.C404F|PREPL_ENST00000378520.3_Intron|PREPL_ENST00000409272.1_Missense_Mutation_p.C404F|PREPL_ENST00000378511.3_Missense_Mutation_p.C342F	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	404						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)				TTGAAAGGGGCAGTTCTTTGG	0.413																																																	0													119	119	119					2																	44559740		2203	4300	6503	SO:0001583	missense	0			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.1211G>T	2.37:g.44559740C>A	ENSP00000386543:p.Cys404Phe		A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A	p.C404F	ENST00000409936.1	37	c.1211	CCDS33190.1	2	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322874	0.23994	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378511	T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.83	5.83	0.93111	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.270105	0.38436	N	0.001686	T	0.48696	0.1514	N	0.19112	0.55	0.43703	D	0.996166	D;B	0.60575	0.988;0.017	D;B	0.77004	0.989;0.009	T	0.49854	-0.8895	10	0.56958	D	0.05	-11.3099	20.115	0.97926	0.0:1.0:0.0:0.0	.	342;404	Q4J6C6-3;Q4J6C6	.;PPCEL_HUMAN	F	315;315;315;404;404;404;404;342	ENSP00000439626:C315F;ENSP00000387095:C315F;ENSP00000387241:C315F;ENSP00000386543:C404F;ENSP00000260648:C404F;ENSP00000386909:C404F;ENSP00000386509:C404F	ENSP00000260648:C404F	C	-	2	0	PREPL	44413244	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.158000	0.58150	2.761000	0.94854	0.650000	0.86243	TGC	PREPL	-	pfam_Pept_S9A_N	ENSG00000138078		0.413	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	-	0	94	0	C	NM_006036		44559740	-1	tier1	-	no_errors	ENST00000260648	ensembl	human	known	74_37	missense	40.68	34	24	SNP	1.000	A	A	44559740	C	A	44559740	3	1	129	1	0	0	0	0	1	0	0	0	12517	710	25	3	1000	3	PREPL	2	44559740	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	11740645	44559740	198639633	21	33076											
C2orf34	79823	genome.wustl.edu	37	chr2	44993623	44993623	+	Missense_Mutation	SNP	A	A	G	1	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	atactttaaaccagttttgcAatctagctgaaaaagctggt	14	13	7	7	0	1	1	0	1	1	0	1	1	1	1	1	1	5	4	1	1	7	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:44993623A>G	ENST00000378494.3	+	10	861	c.817A>G	c.(817-819)Aat>Gat	p.N273D		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	273						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						CCAGTTTTGCAATCTAGCTGA	0.373																																																	0													99	95	96					2																	44993623		2203	4300	6503	SO:0001583	missense	0				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"CaM KMT"	609559	"chromosome 2 open reading frame 34"	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.817A>G	2.37:g.44993623A>G	ENSP00000367755:p.Asn273Asp		Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.N273D	ENST00000378494.3	37	c.817	CCDS1820.1	2	.	.	.	.	.	.	.	.	.	.	A	9.061	0.994452	0.19043	.	.	ENSG00000143919	ENST00000378494	T	0.08546	3.08	5.47	5.47	0.80525	.	0.205107	0.51477	D	0.000085	T	0.05686	0.0149	N	0.02830	-0.485	0.80722	D	1	D	0.53312	0.959	P	0.49085	0.6	T	0.54050	-0.8351	10	0.10111	T	0.7	-11.718	15.5762	0.76387	1.0:0.0:0.0:0.0	.	273	Q7Z624	CMKMT_HUMAN	D	273	ENSP00000367755:N273D	ENSP00000367755:N273D	N	+	1	0	CAMKMT	44847127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.466000	0.45084	2.081000	0.62600	0.528000	0.53228	AAT	CAMKMT	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000143919		0.373	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKMT	HGNC	protein_coding	OTTHUMT00000250678.2	-	0	89	0	A	NM_024766		44993623	1	tier1	-	no_errors	ENST00000378494	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	G	G	44993623	A	G	44993623	3	3	129	1	0	0	0	0	1	0	0	0	2170	130	5	4	855	4	C2orf34	2	44993623	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	433883	44993623	198205750	22	33077											
USP34	9736	genome.wustl.edu	37	chr2	61493302	61493302	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagatatctctcaaaaattCctggggagtaaaaggaaaca	18	8	9	6	0	2	1	1	0	1	1	4	4	3	3	1	3	1	1	1	3	7	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:61493302C>T	ENST00000398571.2	-	42	5510	c.5434G>A	c.(5434-5436)Gaa>Aaa	p.E1812K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1812					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)			CTCAAAAATTCCTGGGGAGTA	0.363																																																	0													47	44	45					2																	61493302		1821	4069	5890	SO:0001630	splice_region_variant	0			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.5434-1G>A	2.37:g.61493302C>T			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.E1812K	ENST00000398571.2	37	c.5434	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626481	0.46840	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.03951	3.9;3.75	5.44	5.44	0.79542	Armadillo-type fold (1);	0.056177	0.64402	D	0.000001	T	0.08358	0.0208	L	0.57536	1.79	0.53688	D	0.999975	B	0.11235	0.004	B	0.08055	0.003	T	0.11690	-1.0577	10	0.37606	T	0.19	.	17.4509	0.87592	0.0:1.0:0.0:0.0	.	1812	Q70CQ2	UBP34_HUMAN	K	1660;1660;1812;90	ENSP00000381577:E1812K;ENSP00000410559:E90K	ENSP00000263989:E1660K	E	-	1	0	USP34	61346806	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.585000	0.74062	2.553000	0.86117	0.563000	0.77884	GAA	USP34	-	superfamily_ARM-type_fold	ENSG00000115464		0.363	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	-	0	54	0	C		Missense_Mutation	61493302	-1	tier1	-	no_errors	ENST00000398571	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T	T	61493302	C	T	61493302	5	4	129	1	0	0	0	0	0	0	1	0	17114	869	30	3	5362	3	USP34	2	61493302	Splice_Site	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	16499679	61493302	181706071	23	33078											
EXOC6B	23233	genome.wustl.edu	37	chr2	72945384	72945384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcgatagtggcttacttGaggcaggtaggtatgctcta	10	12	13	6	1	1	1	0	1	1	0	2	3	1	1	0	4	2	5	0	4	6	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:72945384G>T	ENST00000272427.6	-	6	647	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K	EXOC6B_ENST00000410104.1_Missense_Mutation_p.Q173K	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	173					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TGGCTTACTTGAGGCAGGTAG	0.418																																																	0													130	127	128					2																	72945384		1945	4140	6085	SO:0001583	missense	0			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.517C>A	2.37:g.72945384G>T	ENSP00000272427:p.Gln173Lys		B8ZZY3	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.Q173K	ENST00000272427.6	37	c.517	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383628	0.25031	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	D;D	0.99607	-6.27;-6.27	5.39	5.39	0.77823	.	0.119377	0.56097	D	0.000022	D	0.97164	0.9073	N	0.11427	0.14	0.46798	D	0.999202	B;B	0.09022	0.002;0.001	B;B	0.08055	0.001;0.003	D	0.96242	0.9176	10	0.05351	T	0.99	.	17.6989	0.88289	0.0:0.0:1.0:0.0	.	173;173	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	K	173	ENSP00000272427:Q173K;ENSP00000386698:Q173K	ENSP00000272427:Q173K	Q	-	1	0	EXOC6B	72798892	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.175000	0.58263	2.506000	0.84524	0.563000	0.77884	CAA	EXOC6B	-	pirsf_Sec15	ENSG00000144036		0.418	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	-	0	69	0	G	XM_039570		72945384	-1	tier1	-	no_errors	ENST00000272427	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	72945384	G	T	72945384	3	4	129	1	0	0	0	0	1	0	0	0	5325	1299	45	3	1986	3	EXOC6B	2	72945384	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	11452082	72945384	170253989	24	33079											
TET3	200424	genome.wustl.edu	37	chr2	74274965	74274965	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcctcccaggaagtgCaggctcatccaccggcccct	7	5	9	20	1	1	0	1	0	0	0	3	1	3	1	8	3	2	2	8	3	1	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:74274965C>T	ENST00000409262.3	+	1	1516	c.1516C>T	c.(1516-1518)Cag>Tag	p.Q506*		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	506					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						CCAGGAAGTGCAGGCTCATCC	0.627																																																	0													23	27	26					2																	74274965		1997	4172	6169	SO:0001587	stop_gained	0				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.1516C>T	2.37:g.74274965C>T	ENSP00000386869:p.Gln506*		A6NEI3|Q86Z24|Q8TBM9	Nonsense_Mutation	SNP	NULL	p.Q506*	ENST00000409262.3	37	c.1516	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602327	0.46423	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	13.6693	0.62416	0.0:1.0:0.0:0.0	.	.	.	.	X	548;506;506	.	ENSP00000233310:Q506X	Q	+	1	0	TET3	74128473	0.982000	0.34865	0.909000	0.35828	0.009000	0.06853	2.486000	0.45259	2.686000	0.91538	0.591000	0.81541	CAG	TET3	-	NULL	ENSG00000187605		0.627	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	-	0	58	0	C			74274965	1	tier1	-	no_errors	ENST00000409262	ensembl	human	known	74_37	nonsense	11.76	30	4	SNP	0.972	T	T	74274965	C	T	74274965	4	4	129	1	0	0	0	0	0	1	0	0	15818	711	25	3	1518	3	TET3	2	74274965	Nonsense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	1329581	74274965	168924408	25	33080											
LRRTM1	347730	genome.wustl.edu	37	chr2	80530054	80530054	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccaagagttgaggatccgGggctcgatgtaggtgaggcg	8	9	17	7	3	0	3	0	2	0	1	3	5	2	4	2	5	0	3	2	5	2	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:80530054G>T	ENST00000295057.3	-	2	1547	c.891C>A	c.(889-891)ccC>ccA	p.P297P	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.P297P|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	297					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.P297P(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGAGGATCCGGGGCTCGATGT	0.622										HNSCC(69;0.2)																																							2	Substitution - coding silent(2)	lung(2)											56	55	55					2																	80530054		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.891C>A	2.37:g.80530054G>T			A8K397|D6W5K1|Q96DN1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P297	ENST00000295057.3	37	c.891	CCDS1966.1	2																																																																																			LRRTM1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000162951		0.622	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1		0	40	0	G	NM_178839		80530054	-1			no_errors	ENST00000295057	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.926	T	T	80530054	G	T	80530054	2	4	129	1	0	0	0	0	0	0	0	1	9074	1219	43	3		3	LRRTM1	2	80530054	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	6255089	80530054	162669319	26	33081											
TSGA10	80705	genome.wustl.edu	37	chr2	99720450	99720450	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaaagaattattctctgcTttttgtctgccaagttcact	9	17	5	10	0	4	1	2	0	2	1	5	1	4	1	1	0	2	2	1	0	4	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:99720450T>A	ENST00000393483.3	-	10	1435	c.591A>T	c.(589-591)aaA>aaT	p.K197N	TSGA10_ENST00000542655.1_Missense_Mutation_p.K197N|TSGA10_ENST00000355053.4_Missense_Mutation_p.K197N|TSGA10_ENST00000539964.1_Missense_Mutation_p.K197N|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.K197N	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	197					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						TATTCTCTGCTTTTTGTCTGC	0.318																																																	0													226	203	211					2																	99720450		2202	4299	6501	SO:0001583	missense	0			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.591A>T	2.37:g.99720450T>A	ENSP00000377123:p.Lys197Asn		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.K197N	ENST00000393483.3	37	c.591	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654326	0.67472	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.14	4.0	0.46444	.	0.000000	0.64402	D	0.000009	T	0.60340	0.2261	L	0.58810	1.83	0.43489	D	0.99572	D;D	0.71674	0.998;0.998	D;D	0.64321	0.924;0.924	T	0.57376	-0.7822	10	0.31617	T	0.26	-26.6655	6.5125	0.22230	0.0:0.1834:0.0:0.8166	.	197;197	B7Z925;Q9BZW7	.;TSG10_HUMAN	N	197	ENSP00000377123:K197N;ENSP00000386956:K197N;ENSP00000347161:K197N;ENSP00000444419:K197N;ENSP00000386508:K197N;ENSP00000377122:K197N;ENSP00000445623:K197N	ENSP00000347161:K197N	K	-	3	2	TSGA10	99086882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.615000	0.36922	0.995000	0.38917	0.529000	0.55759	AAA	TSGA10	-	NULL	ENSG00000135951		0.318	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	-	0	117	0	T	NM_182911		99720450	-1	tier1	-	no_errors	ENST00000355053	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	A	A	99720450	T	A	99720450	3	1	129	1	0	0	0	0	1	0	0	0	16665	1606	56	5	1553	5	TSGA10	2	99720450	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	19190396	99720450	143478923	27	33082											
AFF3	3899	genome.wustl.edu	37	chr2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-																															ctggaggagctgctgctgccGctgctgctgctgctgctgct																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:100218011_100218013delGCT	ENST00000409236.2	-	12	1367_1369	c.1255_1257delAGC	c.(1255-1257)agcdel	p.S419del	AFF3_ENST00000317233.4_In_Frame_Del_p.S419del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685																																																	0									,	365,3157		33,299,1429					,	-5.4	0.9			10	878,6286		79,720,2783	no	coding,coding	AFF3	NM_002285.2,NM_001025108.1	,	112,1019,4212	A1A1,A1R,RR		12.2557,10.3634,11.632	,	,		1243,9443				SO:0001651	inframe_deletion	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1255_1257delAGC	2.37:g.100218020_100218022delGCT	ENSP00000387207:p.Ser419del		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	pfam_TF_AF4/FMR2	p.S444in_frame_del	ENST00000409236.2	37	c.1332_1330	CCDS42723.1	2																																																																																			AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.685	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3		0	44	0	GCT	NM_002285		100218013	-1	tier1		no_errors	ENST00000356421	ensembl	human	known	74_37	in_frame_del	15.15	28	5	DEL	1.000:1.000:1.000	-	-	100218013	GCT	-	100218011	7	5	129	1	0	1	0	1	0	0	0	0	358	1078	38	0	2471	0	AFF3	2	100218011	In_Frame_Del	DEL	GCT	TCGA-LN-A8HZ-01A-11D-A36J-09	497561	100218011	142981362	28	33083											
RNF149	284996	genome.wustl.edu	37	chr2	101911541	101911541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcctgtacatgccgggtgCcaacccctatggtcatcgtt	7	11	9	14	2	1	0	1	0	0	0	3	0	2	0	5	2	4	2	5	2	3	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:101911541C>T	ENST00000295317.3	-	2	670	c.563G>A	c.(562-564)gGc>gAc	p.G188D		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	188					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ATGCCGGGTGCCAACCCCTAT	0.438																																					Colon(25;331 612 6521 7355 31028)												0													150	138	142					2																	101911541		2203	4300	6503	SO:0001583	missense	0			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.563G>A	2.37:g.101911541C>T	ENSP00000295317:p.Gly188Asp		Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G188D	ENST00000295317.3	37	c.563	CCDS2051.1	2	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560050	0.65538	.	.	ENSG00000163162	ENST00000295317	T	0.08008	3.14	5.26	5.26	0.73747	.	0.092412	0.45867	D	0.000327	T	0.33673	0.0871	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11567	-1.0582	10	0.87932	D	0	.	18.8805	0.92354	0.0:1.0:0.0:0.0	.	188	Q8NC42	RN149_HUMAN	D	188	ENSP00000295317:G188D	ENSP00000295317:G188D	G	-	2	0	RNF149	101277973	1.000000	0.71417	0.801000	0.32222	0.120000	0.20174	7.711000	0.84669	2.446000	0.82766	0.591000	0.81541	GGC	RNF149	-	NULL	ENSG00000163162		0.438	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF149	HGNC	protein_coding	OTTHUMT00000253180.2	-	0	88	0	C	NM_173647		101911541	-1	tier1	-	no_errors	ENST00000295317	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	101911541	C	T	101911541	3	4	129	1	0	0	0	0	1	0	0	0	13495	739	26	3	663	3	RNF149	2	101911541	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	1693530	101911541	141287832	29	33084											
RGPD4	285190	genome.wustl.edu	37	chr2	108488905	108488905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcatgtttctcggtcaaGcactcccagagagtcaccat	10	10	7	14	1	4	1	3	0	1	1	6	2	5	1	3	1	1	2	3	1	1	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:108488905G>A	ENST00000408999.3	+	20	4522	c.4445G>A	c.(4444-4446)aGc>aAc	p.S1482N	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1482N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1482					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTCGGTCAAGCACTCCCAGA	0.403																																																	0													1	1	1					2																	108488905		267	557	824	SO:0001583	missense	0			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.4445G>A	2.37:g.108488905G>A	ENSP00000386810:p.Ser1482Asn		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S1482N	ENST00000408999.3	37	c.4445	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	0.013	-1.642391	0.00799	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.38401	1.14;1.14	2.33	0.356	0.16074	.	.	.	.	.	T	0.17959	0.0431	N	0.25647	0.755	0.09310	N	1	B	0.18461	0.028	B	0.10450	0.005	T	0.26780	-1.0093	9	0.12103	T	0.63	5.6964	1.8265	0.03122	0.1562:0.4232:0.2595:0.1611	.	1482	Q7Z3J3	RGPD4_HUMAN	N	1482	ENSP00000347081:S1482N;ENSP00000386810:S1482N	ENSP00000347081:S1482N	S	+	2	0	RGPD4	107855337	0.000000	0.05858	0.487000	0.27428	0.609000	0.37215	-0.022000	0.12480	0.288000	0.22398	0.162000	0.16502	AGC	RGPD4	-	NULL	ENSG00000196862		0.403	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	-	0	57	0	G	XM_496581		108488905	1	tier1	-	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.001	A	A	108488905	G	A	108488905	3	1	129	1	0	0	0	0	1	0	0	0	13333	971	34	3	4523	3	RGPD4	2	108488905	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	6577364	108488905	134710468	30	33085											
INHBB	3625	genome.wustl.edu	37	chr2	121106886	121106886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggtggagaagagggtggaCctcaagcgcagcggctggca	10	5	18	8	2	1	2	1	0	0	2	1	4	1	3	1	6	2	3	1	6	2	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:121106886C>T	ENST00000295228.3	+	2	706	c.660C>T	c.(658-660)gaC>gaT	p.D220D		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	220					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)				AGAGGGTGGACCTCAAGCGCA	0.627																																																	0													109	107	108					2																	121106886		2203	4300	6503	SO:0001819	synonymous_variant	0				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.660C>T	2.37:g.121106886C>T			Q53T31|Q8N1D3	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu	p.D220	ENST00000295228.3	37	c.660	CCDS2132.1	2																																																																																			INHBB	-	pfam_TGF-b_N	ENSG00000163083		0.627	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBB	HGNC	protein_coding	OTTHUMT00000254234.1	-	0	69	0	C			121106886	1	tier1	-	no_errors	ENST00000295228	ensembl	human	known	74_37	silent	29.09	39	16	SNP	1.000	T	T	121106886	C	T	121106886	2	4	129	1	0	0	0	0	0	0	0	1	7769	506	18	3		3	INHBB	2	121106886	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	12617981	121106886	122092487	31	33086											
THSD7B	80731	genome.wustl.edu	37	chr2	137814518	137814518	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccaaatctgactgagtCaagagcctgtgatgctccca	11	10	9	11	0	2	4	1	3	1	1	4	4	4	4	3	0	2	1	3	0	2	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:137814518C>A	ENST00000409968.1	+	3	846	c.668C>A	c.(667-669)tCa>tAa	p.S223*	THSD7B_ENST00000543459.1_Nonsense_Mutation_p.S82*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.S223*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.S192*			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	223	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGACTGAGTCAAGAGCCTGT	0.478																																																	0													178	175	176					2																	137814518		1920	4158	6078	SO:0001587	stop_gained	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.668C>A	2.37:g.137814518C>A	ENSP00000387145:p.Ser223*			Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S223*	ENST00000409968.1	37	c.668		2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533726	0.45073	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	.	.	.	5.56	1.21	0.21127	.	0.438150	0.26863	N	0.022115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	1.7716	0.03012	0.1373:0.4708:0.1335:0.2584	.	.	.	.	X	223;223;192;82	.	ENSP00000272643:S223X	S	+	2	0	THSD7B	137530988	0.726000	0.28059	0.172000	0.22920	0.341000	0.28922	1.719000	0.38011	0.237000	0.21200	0.585000	0.79938	TCA	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.478	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0	67	0	C	XM_046570.9		137814518	1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	nonsense	53.33	21	24	SNP	0.325	A	A	137814518	C	A	137814518	4	1	129	1	0	0	0	0	0	1	0	0	15927	838	29	3	581	3	THSD7B	2	137814518	Nonsense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	16707632	137814518	105384855	32	33087											
LY75	4065	genome.wustl.edu	37	chr2	160661610	160661610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattcactccttgtgcatatCgaactgatgagaaacccgcc	11	10	7	13	2	1	2	1	2	0	1	3	4	2	2	3	0	3	1	3	0	3	3	rs34034503	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:160661610C>T	ENST00000263636.4	-	35	5141	c.5114G>A	c.(5113-5115)cGa>cAa	p.R1705Q	LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron|LY75_ENST00000554112.1_Intron|LY75-CD302_ENST00000504764.1_Intron	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1705					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)		TTGTGCATATCGAACTGATGA	0.398																																																	0													88	84	85					2																	160661610		2203	4300	6503	SO:0001583	missense	0			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.5114G>A	2.37:g.160661610C>T	ENSP00000263636:p.Arg1705Gln		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.R1705Q	ENST00000263636.4	37	c.5114	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077173	0.36662	.	.	ENSG00000054219	ENST00000263636	T	0.10668	2.85	5.66	4.79	0.61399	.	0.709223	0.10881	U	0.623853	T	0.09686	0.0238	N	0.20986	0.625	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.09907	-1.0653	10	0.59425	D	0.04	.	12.0611	0.53562	0.0:0.919:0.0:0.081	.	1705	O60449	LY75_HUMAN	Q	1705	ENSP00000263636:R1705Q	ENSP00000263636:R1705Q	R	-	2	0	LY75	160369856	0.984000	0.35163	1.000000	0.80357	0.180000	0.23129	2.063000	0.41423	1.418000	0.47098	-0.137000	0.14449	CGA	LY75	-	NULL	ENSG00000054219		0.398	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1		0	70	0	C			160661610	-1			no_errors	ENST00000263636	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	160661610	C	T	160661610	3	4	129	1	0	0	0	0	1	0	0	0	9135	884	31	1	58	1	LY75	2	160661610	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	22847092	160661610	82537763	33	33088											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098800	178098800	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctggctgaattgggagaaatTcacctgtctcttcatctagt	9	14	9	9	0	4	2	2	1	2	1	5	3	4	2	1	2	0	1	1	2	3	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:178098800T>C	ENST00000397062.3	-	2	799	c.245A>G	c.(244-246)gAa>gGa	p.E82G	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82G(3)|p.G81_F83delGEF(1)|p.E82V(1)		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)			TGGGAGAAATTCACCTGTCTC	0.433			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	5	Substitution - Missense(4)|Deletion - In frame(1)	liver(3)|lung(1)|oesophagus(1)											137	137	137					2																	178098800		1900	4105	6005	SO:0001583	missense	0				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.245A>G	2.37:g.178098800T>C	ENSP00000380252:p.Glu82Gly		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E82G	ENST00000397062.3	37	c.245	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	T	29.9	5.048793	0.93740	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.38077	1.57;1.57;1.57;1.16;1.16;1.57	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.997;0.994;0.998;0.997	T	0.72959	-0.4133	10	0.87932	D	0	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	66;82;66;66;66;66	ENSP00000380253:E66G;ENSP00000380252:E82G;ENSP00000411575:E66G;ENSP00000400073:E66G;ENSP00000412191:E66G;ENSP00000410015:E66G	ENSP00000380252:E82G	E	-	2	0	NFE2L2	177807046	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.503000	0.81632	2.210000	0.71456	0.460000	0.39030	GAA	NFE2L2	-	NULL	ENSG00000116044		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0	112	0	T	NM_006164		178098800	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	51.52	32	34	SNP	1.000	C	C	178098800	T	C	178098800	3	2	129	1	0	0	0	0	1	0	0	0	10407	1783	62	4	1588	4	NFE2L2	2	178098800	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	17437190	178098800	65100573	34	33089											
TTN	7273	genome.wustl.edu	37	chr2	179451855	179451855	+	Silent	SNP	T	T	C	0	1	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	taatacttacttagaggatcTgatgcaagcactggttttgg	11	14	10	6	0	1	2	0	1	1	1	1	3	1	3	0	3	4	3	0	3	5	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:179451855T>C	ENST00000591111.1	-	257	59384	c.59160A>G	c.(59158-59160)tcA>tcG	p.S19720S	TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.S18793S|TTN_ENST00000359218.5_Silent_p.S12421S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.S21361S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S12488S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.S12296S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19720	Fibronectin type-III 42. {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)			TTAGAGGATCTGATGCAAGCA	0.418																																																	0													190	190	190					2																	179451855		1915	4116	6031	SO:0001819	synonymous_variant	0			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.59160A>G	2.37:g.179451855T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S18793	ENST00000591111.1	37	c.56379		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	69	0	T	NM_133378		179451855	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.993	C	C	179451855	T	C	179451855	2	2	129	1	0	0	0	0	0	0	0	1	16784	1567	55	4		4	TTN	2	179451855	Silent	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	1353055	179451855	63747518	35	33090											
TTN	7273	genome.wustl.edu	37	chr2	179659182	179659182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtcctctgagcagtctGctctacagcgctgatcactg	6	12	11	12	1	4	2	1	2	3	0	5	2	5	2	1	1	4	4	1	1	1	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:179659182G>T	ENST00000591111.1	-	8	1566	c.1342C>A	c.(1342-1344)Cag>Aag	p.Q448K	TTN_ENST00000342992.6_Missense_Mutation_p.Q448K|TTN_ENST00000359218.5_Missense_Mutation_p.Q448K|TTN_ENST00000589042.1_Missense_Mutation_p.Q448K|TTN_ENST00000360870.5_Missense_Mutation_p.Q448K|TTN_ENST00000342175.6_Missense_Mutation_p.Q448K|TTN_ENST00000460472.2_Missense_Mutation_p.Q448K			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGCAGTCTGCTCTACAGCG	0.552																																																	0													211	189	196					2																	179659182		2203	4300	6503	SO:0001583	missense	0			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.1342C>A	2.37:g.179659182G>T	ENSP00000465570:p.Gln448Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q448K	ENST00000591111.1	37	c.1342		2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552151	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.87	4.95	0.65309	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.38532	0.1044	N	0.19112	0.55	0.22728	N	0.998801	B;B;B;B;P	0.42296	0.201;0.201;0.201;0.201;0.775	B;B;B;B;B	0.41412	0.089;0.089;0.089;0.089;0.356	T	0.37244	-0.9714	9	0.87932	D	0	.	14.7473	0.69499	0.0:0.2625:0.7374:0.0	.	448;448;448;448;448	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	448;448;448;448;448;448;44	ENSP00000343764:Q448K;ENSP00000434586:Q448K;ENSP00000340554:Q448K;ENSP00000352154:Q448K;ENSP00000354117:Q448K;ENSP00000405517:Q44K	ENSP00000340554:Q448K	Q	-	1	0	TTN	179367427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.429000	0.52800	2.780000	0.95670	0.655000	0.94253	CAG	TTN	-	pfam_Titin_Z,superfamily_RNaseH-like_dom	ENSG00000155657		0.552	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	52	0	G	NM_133378		179659182	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	179659182	G	T	179659182	3	4	129	1	0	0	0	0	1	0	0	0	16784	1328	46	3	110066	3	TTN	2	179659182	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	207327	179659182	63540191	36	33091											
CCDC141	285025	genome.wustl.edu	37	chr2	179702195	179702195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgctggtcccagcctgcaCcccatagctgcttatgtgaa	7	10	10	14	0	0	1	0	1	0	0	1	1	1	1	4	1	5	5	4	1	3	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:179702195C>T	ENST00000420890.2	-	23	3868	c.3751G>A	c.(3751-3753)Gtg>Atg	p.V1251M	CCDC141_ENST00000295723.5_Missense_Mutation_p.V676M|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1251										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)			CCAGCCTGCACCCCATAGCTG	0.557																																																	0													59	60	60					2																	179702195		2203	4300	6503	SO:0001583	missense	0			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.3751G>A	2.37:g.179702195C>T	ENSP00000395995:p.Val1251Met		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V1251M	ENST00000420890.2	37	c.3751		2	.	.	.	.	.	.	.	.	.	.	C	0.220	-1.029417	0.02045	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.42513	0.97;1.59;1.59	5.92	-2.36	0.06663	.	0.477572	0.21459	N	0.074188	T	0.06142	0.0159	N	0.00268	-1.735	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.33828	-0.9853	10	0.02654	T	1	-3.9008	0.5273	0.00622	0.2623:0.1522:0.283:0.3026	.	676;676	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	M	1251;695;676	ENSP00000395995:V1251M;ENSP00000344627:V695M;ENSP00000295723:V676M	ENSP00000295723:V676M	V	-	1	0	CCDC141	179410440	0.015000	0.18098	0.086000	0.20670	0.002000	0.02628	0.032000	0.13732	-0.180000	0.10637	-0.894000	0.02916	GTG	CCDC141	-	NULL	ENSG00000163492		0.557	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		-	0	38	0	C	NM_173648		179702195	-1	tier1	-	no_errors	ENST00000420890	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.003	T	T	179702195	C	T	179702195	3	4	129	1	0	0	0	0	1	0	0	0	2782	507	18	3	605	3	CCDC141	2	179702195	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	43013	179702195	63497178	37	33092											
ITGAV	3685	genome.wustl.edu	37	chr2	187529332	187529332	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcgtttccattccactGcaggctgatttcatcggggt	6	14	9	12	2	2	1	2	1	0	0	6	1	4	1	2	3	1	3	2	3	0	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:187529332G>T	ENST00000261023.3	+	20	2311	c.2037G>T	c.(2035-2037)ctG>ctT	p.L679L	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.L643L|ITGAV_ENST00000433736.2_Silent_p.L633L	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	679					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CCATTCCACTGCAGGCTGATT	0.433																																					Melanoma(58;108 1995 6081)												0													175	161	166					2																	187529332		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2037G>T	2.37:g.187529332G>T			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L679	ENST00000261023.3	37	c.2037	CCDS2292.1	2																																																																																			ITGAV	-	pfam_Integrin_alpha-2	ENSG00000138448		0.433	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2		0	112	0	G	NM_002210		187529332	1			no_errors	ENST00000261023	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.001	T	T	187529332	G	T	187529332	2	4	129	1	0	0	0	0	0	0	0	1	7915	1306	46	3		3	ITGAV	2	187529332	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	7827137	187529332	55670041	38	33093											
MAP2	4133	genome.wustl.edu	37	chr2	210560091	210560091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctaaacatagatgatagaaGggcaacagagctaaaacttg	18	7	10	6	0	0	4	0	1	0	3	0	4	0	4	0	1	4	3	0	1	8	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:210560091G>T	ENST00000360351.4	+	7	3703	c.3197G>T	c.(3196-3198)aGg>aTg	p.R1066M	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R1062M|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1066					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GATGATAGAAGGGCAACAGAG	0.473																																					Pancreas(27;423 979 28787 29963)												0													111	114	113					2																	210560091		2203	4300	6503	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3197G>T	2.37:g.210560091G>T	ENSP00000353508:p.Arg1066Met		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.R1066M	ENST00000360351.4	37	c.3197	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277004	0.23307	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.20069	2.1;2.1	5.3	1.32	0.21799	MAP2/Tau projection (1);	0.487966	0.20346	N	0.094157	T	0.08935	0.0221	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	0.22695	-1.0209	10	0.72032	D	0.01	-0.6449	3.9838	0.09506	0.6387:0.0:0.2045:0.1568	.	1062;1066	P11137-3;P11137	.;MAP2_HUMAN	M	1066;1062	ENSP00000353508:R1066M;ENSP00000392164:R1062M	ENSP00000353508:R1066M	R	+	2	0	MAP2	210268336	0.059000	0.20769	0.000000	0.03702	0.011000	0.07611	2.262000	0.43285	0.060000	0.16281	-0.312000	0.09012	AGG	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.473	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2		0	18	0	G	NM_001039538		210560091	1			no_errors	ENST00000360351	ensembl	human	known	74_37	missense	14.29	12	2	SNP	0.002	T	T	210560091	G	T	210560091	3	4	129	1	0	0	0	0	1	0	0	0	9273	1000	35	3	3211	3	MAP2	2	210560091	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	23030759	210560091	32639282	39	33094											
SLC4A3	6508	genome.wustl.edu	37	chr2	220493143	220493143	+	Missense_Mutation	SNP	A	A	G	1	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	gcaggtccgggtgcccttggAggagccccctctaagtccag	6	7	14	14	1	1	0	0	0	1	0	3	2	3	2	5	4	2	1	5	4	1	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:220493143A>G	ENST00000358055.3	+	3	580	c.68A>G	c.(67-69)gAg>gGg	p.E23G	SLC4A3_ENST00000317151.3_Missense_Mutation_p.E23G|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E23G|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E23G|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E23G			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	23					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)		GTGCCCTTGGAGGAGCCCCCT	0.647																																																	0													38	42	41					2																	220493143		2203	4300	6503	SO:0001583	missense	0				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.68A>G	2.37:g.220493143A>G	ENSP00000350756:p.Glu23Gly		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.E23G	ENST00000358055.3	37	c.68	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590189	0.46214	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.75050	-0.86;-0.86;-0.9;-0.9;-0.86	3.71	3.71	0.42584	.	11.777600	0.00166	N	0.000002	T	0.80665	0.4666	N	0.25647	0.755	0.35783	D	0.821818	P;D	0.61080	0.947;0.989	D;D	0.70487	0.932;0.969	T	0.69684	-0.5079	10	0.59425	D	0.04	.	10.5548	0.45110	1.0:0.0:0.0:0.0	.	23;23	P48751;P48751-3	B3A3_HUMAN;.	G	23	ENSP00000350756:E23G;ENSP00000362865:E23G;ENSP00000273063:E23G;ENSP00000362867:E23G;ENSP00000314006:E23G	ENSP00000273063:E23G	E	+	2	0	SLC4A3	220201387	0.765000	0.28485	1.000000	0.80357	0.947000	0.59692	2.518000	0.45537	1.676000	0.50930	0.260000	0.18958	GAG	SLC4A3	-	NULL	ENSG00000114923		0.647	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1		0	87	0	A	NM_005070		220493143	1			no_errors	ENST00000273063	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	G	G	220493143	A	G	220493143	3	3	129	1	0	0	0	0	1	0	0	0	14700	304	11	4	74	4	SLC4A3	2	220493143	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	9933052	220493143	22706230	40	33095											
SERPINE2	5270	genome.wustl.edu	37	chr2	224862917	224862917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acattccggacctcacactgGaacacatctttgttccttgt	9	13	6	13	1	2	0	1	0	1	0	4	2	4	2	3	2	1	1	3	2	1	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:224862917G>T	ENST00000258405.4	-	3	644	c.402C>A	c.(400-402)ttC>ttA	p.F134L	SERPINE2_ENST00000447280.2_Missense_Mutation_p.F146L|SERPINE2_ENST00000409840.3_Missense_Mutation_p.F134L|SERPINE2_ENST00000409304.1_Missense_Mutation_p.F134L	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	134					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)		CCTCACACTGGAACACATCTT	0.453																																																	0													112	100	104					2																	224862917		2203	4300	6503	SO:0001583	missense	0			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.402C>A	2.37:g.224862917G>T	ENSP00000258405:p.Phe134Leu		B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.F134L	ENST00000258405.4	37	c.402	CCDS2460.1	2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195928	0.58126	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.92	-4.9	0.03094	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.89958	0.4084	10	0.87932	D	0	.	13.5909	0.61959	0.4898:0.0:0.5102:0.0	.	146;134	B4DIF2;P07093	.;GDN_HUMAN	L	134;134;134;146;134	ENSP00000386412:F134L;ENSP00000258405:F134L;ENSP00000386969:F134L;ENSP00000415786:F146L;ENSP00000408452:F134L	ENSP00000258405:F134L	F	-	3	2	SERPINE2	224571161	0.999000	0.42202	0.873000	0.34254	0.244000	0.25665	0.730000	0.26043	-1.218000	0.02601	-0.781000	0.03364	TTC	SERPINE2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000135919		0.453	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	HGNC	protein_coding	OTTHUMT00000256865.2	-	0	107	0	G	NM_006216		224862917	-1	tier1	-	no_errors	ENST00000258405	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.967	T	T	224862917	G	T	224862917	3	4	129	1	0	0	0	0	1	0	0	0	14157	1165	41	3	822	3	SERPINE2	2	224862917	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	4369774	224862917	18336456	41	33096											
SP100	6672	genome.wustl.edu	37	chr2	231371134	231371134	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctaagtatacgctgcggtGgatataccctgaaagtcctg	11	10	11	9	2	0	1	0	1	0	0	1	2	1	2	2	2	4	3	2	2	6	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:231371134G>T	ENST00000264052.5	+	22	2342	c.1987G>T	c.(1987-1989)Gga>Tga	p.G663*	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Nonsense_Mutation_p.G663*|SP100_ENST00000340126.4_Nonsense_Mutation_p.G663*	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	663	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACGCTGCGGTGGATATACCCT	0.443																																																	0													70	68	69					2																	231371134		2203	4300	6503	SO:0001587	stop_gained	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1987G>T	2.37:g.231371134G>T	ENSP00000264052:p.Gly663*		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Nonsense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.G663*	ENST00000264052.5	37	c.1987	CCDS2477.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.863477|7.863477	0.98531|0.98531	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648|ENST00000431952	.|.	.|.	.|.	4.65|4.65	3.76|3.76	0.43208|0.43208	.|.	.|.	.|.	.|.	.|.	.|T	.|0.43456	.|0.1248	.|.	.|.	.|.	0.32433|0.32433	N|N	0.547769|0.547769	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49143	.|-0.8970	.|4	0.87932|.	D|.	0|.	.|.	8.0405|8.0405	0.30519|0.30519	0.1078:0.0:0.8922:0.0|0.1078:0.0:0.8922:0.0	.|.	.|.	.|.	.|.	X|L	663;663;663;146|49	.|.	ENSP00000264052:G663X|.	G|W	+|+	1|2	0|0	SP100|SP100	231079378|231079378	0.144000|0.144000	0.22641|0.22641	0.105000|0.105000	0.21289|0.21289	0.139000|0.139000	0.21198|0.21198	1.423000|1.423000	0.34837|0.34837	2.574000|2.574000	0.86865|0.86865	0.655000|0.655000	0.94253|0.94253	GGA|TGG	SP100	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	ENSG00000067066		0.443	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	-	0	67	0	G	NM_003113		231371134	1	tier1	-	no_errors	ENST00000340126	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	0.063	T	T	231371134	G	T	231371134	4	4	129	1	0	0	0	0	0	1	0	0	15005	1349	47	3	2073	3	SP100	2	231371134	Nonsense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	6508217	231371134	11828239	42	33097											
IQCA1	79781	genome.wustl.edu	37	chr2	237272501	237272501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttagaggaggacaagttGaagaggttggctcccgtttc	10	11	14	6	1	0	3	0	1	0	2	2	5	1	5	1	4	0	5	1	4	3	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:237272501G>T	ENST00000409907.3	-	15	2065	c.1791C>A	c.(1789-1791)ttC>ttA	p.F597L	IQCA1_ENST00000431676.2_Missense_Mutation_p.F556L|IQCA1_ENST00000309507.5_Missense_Mutation_p.F594L	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	597							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGGACAAGTTGAAGAGGTTGG	0.493																																																	0													173	173	173					2																	237272501		1997	4167	6164	SO:0001583	missense	0			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.1791C>A	2.37:g.237272501G>T	ENSP00000387347:p.Phe597Leu		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.F597L	ENST00000409907.3	37	c.1791	CCDS46549.1	2	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879412	0.72294	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.87103	-2.21;-2.21;-2.21	4.36	3.45	0.39498	ATPase, AAA-type, core (1);	0.000000	0.64402	D	0.000003	D	0.90188	0.6933	L	0.58428	1.81	0.49213	D	0.999761	D;D;D	0.71674	0.993;0.995;0.998	D;D;D	0.73380	0.914;0.98;0.98	D	0.89201	0.3557	10	0.48119	T	0.1	.	9.684	0.40087	0.1681:0.0:0.8319:0.0	.	556;605;597	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	L	597;605;594;556;594	ENSP00000387347:F597L;ENSP00000311951:F594L;ENSP00000407213:F556L	ENSP00000254653:F598L	F	-	3	2	IQCA1	236937240	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	3.798000	0.55522	2.128000	0.65567	0.561000	0.74099	TTC	IQCA1	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase	ENSG00000132321		0.493	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	-	0	115	0	G	NM_024726		237272501	-1	tier1	-	no_errors	ENST00000409907	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	237272501	G	T	237272501	3	4	129	1	0	0	0	0	1	0	0	0	7829	1281	45	3	697	3	IQCA1	2	237272501	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	5901367	237272501	5926872	43	33098											
SNED1	25992	genome.wustl.edu	37	chr2	241991851	241991851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acggatttcttctgccactgCcaagcagggtacatgggacg	9	9	12	11	2	2	0	0	0	2	0	2	2	2	2	2	3	4	2	2	3	2	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:241991851C>T	ENST00000310397.8	+	15	2049	c.2049C>T	c.(2047-2049)tgC>tgT	p.C683C	SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Silent_p.C683C|SNED1_ENST00000401884.1_Silent_p.C683C|SNED1_ENST00000405547.3_Silent_p.C683C|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	683	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCTGCCACTGCCAAGCAGGGT	0.642																																																	0													55	63	60					2																	241991851		2030	4188	6218	SO:0001819	synonymous_variant	0			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.2049C>T	2.37:g.241991851C>T			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.C683	ENST00000310397.8	37	c.2049	CCDS46562.1	2																																																																																			SNED1	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000162804		0.642	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2		0	106	0	C	XM_059482		241991851	1			no_errors	ENST00000310397	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.898	T	T	241991851	C	T	241991851	2	4	129	1	0	0	0	0	0	0	0	1	14890	747	26	3		3	SNED1	2	241991851	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	4719350	241991851	1207522	44	33099											
GALNTL2	117248	genome.wustl.edu	37	chr3	16237381	16237381	+	Silent	SNP	G	G	T	0	0	1	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	cacagcatcctcgacacagtGcccagggccttcctgaagga	10	6	10	15	1	0	1	0	1	0	0	3	3	2	2	4	2	2	1	4	2	1	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:16237381G>T	ENST00000339732.5	+	2	1157	c.654G>T	c.(652-654)gtG>gtT	p.V218V	GALNT15_ENST00000437509.1_Silent_p.V218V	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	218	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)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCGACACAGTGCCCAGGGCCT	0.612																																																	0													91	69	76					3																	16237381		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.654G>T	3.37:g.16237381G>T			A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V218	ENST00000339732.5	37	c.654	CCDS33711.1	3																																																																																			GALNT15	-	pfam_Glyco_trans_2	ENSG00000131386		0.612	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT15	HGNC	protein_coding	OTTHUMT00000346483.2	-	0	62	0	G	NM_054110		16237381	1	tier1	-	no_errors	ENST00000339732	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.180	T	T	16237381	G	T	16237381	2	4	129	1	0	0	0	0	0	0	0	1	6247	1306	46	3		3	GALNTL2	3	16237381	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09		16237381	181785049	45	33100											
LRRFIP2	9209	genome.wustl.edu	37	chr3	37154454	37154454	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctcttcttcattccatgagaGtgactgtaagaatgattctg	10	15	8	8	0	4	4	1	3	3	2	5	5	5	4	1	0	0	1	1	0	2	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:37154454G>T	ENST00000336686.4	-	8	470	c.390C>A	c.(388-390)caC>caA	p.H130Q	LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.H99Q|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.H130Q|LRRFIP2_ENST00000354379.4_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	130	DVL3-binding.|Ser-rich.				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						TTCCATGAGAGTGACTGTAAG	0.323																																																	1	Whole gene deletion(1)	ovary(1)											119	123	122					3																	37154454		2203	4300	6503	SO:0001583	missense	0			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.390C>A	3.37:g.37154454G>T	ENSP00000338727:p.His130Gln		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin	p.H130Q	ENST00000336686.4	37	c.390	CCDS2664.1	3	.	.	.	.	.	.	.	.	.	.	G	8.184	0.794406	0.16327	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000396428	T;T;T	0.40756	1.05;1.05;1.02	5.24	4.35	0.52113	.	0.691598	0.13751	N	0.365265	T	0.22627	0.0546	N	0.14661	0.345	0.22017	N	0.99942	B;B	0.14438	0.01;0.01	B;B	0.19666	0.018;0.026	T	0.12785	-1.0534	10	0.31617	T	0.26	-5.3963	2.6899	0.05118	0.1497:0.1555:0.5339:0.1609	.	99;130	A8MXR0;Q9Y608	.;LRRF2_HUMAN	Q	130;130;99	ENSP00000392217:H130Q;ENSP00000338727:H130Q;ENSP00000379705:H99Q	ENSP00000338727:H130Q	H	-	3	2	LRRFIP2	37129458	0.997000	0.39634	0.242000	0.24170	0.884000	0.51177	0.224000	0.17738	1.303000	0.44873	0.467000	0.42956	CAC	LRRFIP2	-	NULL	ENSG00000093167		0.323	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	HGNC	protein_coding	OTTHUMT00000253335.3		0	52	0	G	NM_006309		37154454	-1			no_errors	ENST00000336686	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.965	T	T	37154454	G	T	37154454	3	4	129	1	0	0	0	0	1	0	0	0	9063	1020	36	3	1859	3	LRRFIP2	3	37154454	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	20917073	37154454	160867976	46	33101											
XCR1	2829	genome.wustl.edu	37	chr3	46062533	46062533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcagaaccagaactgccGgagaacatgtttcaggtgtg	11	7	13	10	2	1	3	1	0	0	3	1	4	1	3	3	3	4	2	3	3	3	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:46062533G>A	ENST00000309285.3	-	2	1263	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	XCR1_ENST00000542109.1_Missense_Mutation_p.R303W	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	303					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAGAACTGCCGGAGAACATGT	0.622																																																	0													52	54	54					3																	46062533		2203	4300	6503	SO:0001583	missense	0				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.907C>T	3.37:g.46062533G>A	ENSP00000310405:p.Arg303Trp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.R303W	ENST00000309285.3	37	c.907	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	G	8.106	0.777824	0.16120	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.39056	1.1;1.1	5.73	1.72	0.24424	.	0.934058	0.09158	N	0.840541	T	0.20981	0.0505	N	0.08118	0	0.09310	N	1	B	0.24132	0.098	B	0.10450	0.005	T	0.20907	-1.0261	10	0.87932	D	0	.	4.128	0.10136	0.0723:0.3443:0.2604:0.323	.	303	P46094	XCR1_HUMAN	W	303	ENSP00000310405:R303W;ENSP00000438119:R303W	ENSP00000310405:R303W	R	-	1	2	XCR1	46037537	0.314000	0.24563	0.001000	0.08648	0.005000	0.04900	1.343000	0.33930	0.286000	0.22352	0.655000	0.94253	CGG	XCR1	-	prints_Chemokine_rcpt	ENSG00000173578		0.622	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	-	0	70	0	G			46062533	-1	tier1	-	no_errors	ENST00000309285	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	A	A	46062533	G	A	46062533	3	1	129	1	0	0	0	0	1	0	0	0	17474	1115	39	1	98	1	XCR1	3	46062533	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	8908079	46062533	151959897	47	33102											
KLHL18	23276	genome.wustl.edu	37	chr3	47384290	47384290	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ggcaggatatatgtgtcaggCggccatgatggtttgcagat	9	11	15	6	1	1	2	1	1	0	1	1	3	1	3	1	5	1	3	1	5	2	3	rs147202777		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:47384290C>T	ENST00000232766.5	+	9	1328	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	KLHL18_ENST00000455924.2_Silent_p.G324G	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	436										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ATGTGTCAGGCGGCCATGATG	0.478																																																	0								C		0,4406		0,0,2203	206	178	188		1308	-1.4	1	3	dbSNP_134	188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL18	NM_025010.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		436/575	47384290	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"Kelch-like", "BTB/POZ domain containing"	29120	protein-coding gene	gene with protein product			"kelch-like 18 (Drosophila)"			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1308C>T	3.37:g.47384290C>T			A8K612|Q7Z3E8|Q8N125	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G436	ENST00000232766.5	37	c.1308	CCDS33749.1	3																																																																																			KLHL18	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000114648		0.478	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	HGNC	protein_coding	OTTHUMT00000344493.1	-	0	101	0	C	NM_025010		47384290	1	tier1	rs147202777	no_errors	ENST00000232766	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.966	T	T	47384290	C	T	47384290	2	4	129	1	0	0	0	0	0	0	0	1	8400	755	27	1		1	KLHL18	3	47384290	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	1321757	47384290	150638140	48	33103											
MAP4	4134	genome.wustl.edu	37	chr3	47969785	47969785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtatcttctggccagttctgGctatttgggtattcctggta	5	17	11	8	0	3	0	0	0	3	0	4	0	4	0	2	4	0	5	2	4	4	8			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:47969785G>T	ENST00000360240.6	-	4	866	c.348C>A	c.(346-348)agC>agA	p.S116R	MAP4_ENST00000395734.3_Missense_Mutation_p.S116R|MAP4_ENST00000426837.2_Missense_Mutation_p.S133R|MAP4_ENST00000383737.4_Missense_Mutation_p.S116R	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	116					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GCCAGTTCTGGCTATTTGGGT	0.408																																																	0													160	155	157					3																	47969785		2203	4300	6503	SO:0001583	missense	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.348C>A	3.37:g.47969785G>T	ENSP00000353375:p.Ser116Arg		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_MAP_tubulin-bd_rpt	p.S116R	ENST00000360240.6	37	c.348	CCDS33750.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.06|13.06	2.124467|2.124467	0.37533|0.37533	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000423088|ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240	.|T;T;T;T	.|0.36699	.|1.24;1.24;1.24;1.24	3.86|3.86	1.76|1.76	0.24704|0.24704	.|.	.|.	.|.	.|.	.|.	T|T	0.32556|0.32556	0.0833|0.0833	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.60575	.|0.988;0.96;0.947	.|P;P;P	.|0.51229	.|0.601;0.663;0.544	T|T	0.05801|0.05801	-1.0863|-1.0863	5|9	.|0.25751	.|T	.|0.34	-7.0E-4|-7.0E-4	6.4058|6.4058	0.21664|0.21664	0.2533:0.0:0.7467:0.0|0.2533:0.0:0.7467:0.0	.|.	.|93;116;116	.|C9JFC3;P27816-6;P27816	.|.;.;MAP4_HUMAN	D|R	123|116;116;133;116	.|ENSP00000373243:S116R;ENSP00000379083:S116R;ENSP00000407602:S133R;ENSP00000353375:S116R	.|ENSP00000353375:S116R	A|S	-|-	2|3	0|2	MAP4|MAP4	47944789|47944789	0.795000|0.795000	0.28851|0.28851	0.992000|0.992000	0.48379|0.48379	0.890000|0.890000	0.51754|0.51754	0.226000|0.226000	0.17776|0.17776	0.488000|0.488000	0.27723|0.27723	0.585000|0.585000	0.79938|0.79938	GCC|AGC	MAP4	-	NULL	ENSG00000047849		0.408	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	-	0	181	0	G	NM_002375		47969785	-1	tier1	-	no_errors	ENST00000360240	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.991	T	T	47969785	G	T	47969785	3	4	129	1	0	0	0	0	1	0	0	0	9296	1194	42	3	4533	3	MAP4	3	47969785	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	585495	47969785	150052645	49	33104											
GRM2	2912	genome.wustl.edu	37	chr3	51746593	51746593	+	Silent	SNP	G	G	T	0	0	1	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	gactactttgcccgcacagtGcctcctgacttcttccaagc	7	11	7	16	1	1	1	0	1	1	0	3	2	3	1	4	0	4	1	4	0	2	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:51746593G>T	ENST00000395052.3	+	3	789	c.555G>T	c.(553-555)gtG>gtT	p.V185V	GRM2_ENST00000442933.2_Silent_p.V185V|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	185					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|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)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCGCACAGTGCCTCCTGACT	0.542																																																	0													175	154	161					3																	51746593		2203	4300	6503	SO:0001819	synonymous_variant	0			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.555G>T	3.37:g.51746593G>T			B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.V185	ENST00000395052.3	37	c.555	CCDS2834.1	3																																																																																			GRM2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000164082		0.542	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	-	0	104	0	G			51746593	1	tier1	-	no_errors	ENST00000395052	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	T	T	51746593	G	T	51746593	2	4	129	1	0	0	0	0	0	0	0	1	6824	1306	46	3		3	GRM2	3	51746593	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	3776808	51746593	146275837	50	33105											
ATXN7	6314	genome.wustl.edu	37	chr3	63898361	63898363	+	In_Frame_Del	DEL	GCA	GCA	-																															gcagcggccgcggccgcccgGcagcagcagcagcagcagca																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:63898361_63898363delGCA	ENST00000295900.6	+	3	637_639	c.87_89delGCA	c.(85-90)cggcag>cgg	p.Q39del	ATXN7_ENST00000538065.1_In_Frame_Del_p.Q39del|ATXN7_ENST00000487717.1_In_Frame_Del_p.Q39del|ATXN7_ENST00000398590.3_In_Frame_Del_p.Q39del	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	39	Gln-rich.|Poly-Gln.				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)		cggccgcccggcagcagcagcag	0.798																																																	0																																										SO:0001651	inframe_deletion	0			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.87_89delGCA	3.37:g.63898370_63898372delGCA	ENSP00000295900:p.Gln39del		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	In_Frame_Del	DEL	pfam_SCA7_dom	p.Q33in_frame_del	ENST00000295900.6	37	c.87_89	CCDS43102.1	3																																																																																			ATXN7	-	NULL	ENSG00000163635		0.798	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	HGNC	protein_coding	OTTHUMT00000352070.1		0	20	0	GCA	NM_000333		63898363	1	tier1		no_errors	ENST00000398590	ensembl	human	known	74_37	in_frame_del	40.00	3	2	DEL	1.000:1.000:1.000	-	-	63898363	GCA	-	63898361	7	5	129	1	0	1	0	1	0	0	0	0	1216	1190	42	0	89	0	ATXN7	3	63898361	In_Frame_Del	DEL	GCA	TCGA-LN-A8HZ-01A-11D-A36J-09	12151768	63898361	134124069	51	33106											
ZBTB38	253461	genome.wustl.edu	37	chr3	141161329	141161329	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcattcggggcattttatgCgatgtcactatcattgtgga	8	14	11	8	3	2	0	2	0	0	0	3	2	2	1	0	3	1	2	0	3	2	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:141161329C>T	ENST00000514251.1	+	4	378	c.99C>T	c.(97-99)tgC>tgT	p.C33C	ZBTB38_ENST00000321464.5_Silent_p.C34C|ZBTB38_ENST00000441582.2_Silent_p.C33C					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						GCATTTTATGCGATGTCACTA	0.428																																																	0													143	133	136					3																	141161329		1874	4127	6001	SO:0001819	synonymous_variant	0			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.99C>T	3.37:g.141161329C>T				Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.C34	ENST00000514251.1	37	c.102	CCDS43157.1	3																																																																																			ZBTB38	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000177311		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2		0	63	0	C			141161329	1			no_errors	ENST00000321464	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.999	T	T	141161329	C	T	141161329	2	4	129	1	0	0	0	0	0	0	0	1	17587	776	27	1		1	ZBTB38	3	141161329	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	77262968	141161329	56861101	52	33107											
ATR	545	genome.wustl.edu	37	chr3	142266582	142266583	+	Frame_Shift_Ins	INS	-	-	A																															ttaccatcagttcaggtgatINSatgatatctctcgggccctg																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:142266582_142266583insA	ENST00000350721.4	-	16	3462_3463	c.3341_3342insT	c.(3340-3342)atafs	p.I1114fs	ATR_ENST00000383101.3_Frame_Shift_Ins_p.I1050fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1114					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						GTTCAGGTGATATGATATCTCT	0.347								Other conserved DNA damage response genes																																									0																																										SO:0001589	frameshift_variant	0			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.3342dupT	3.37:g.142266583_142266583dupA	ENSP00000343741:p.Ile1114fs		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Ins	INS	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.S1115fs	ENST00000350721.4	37	c.3342_3341	CCDS3124.1	3																																																																																			ATR	-	superfamily_ARM-type_fold	ENSG00000175054		0.347	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2		0	104	0	-	NM_001184		142266583	-1	tier1		no_errors	ENST00000350721	ensembl	human	known	74_37	frame_shift_ins	27.72	73	28	INS	0.965:0.999	A	A	142266583	-	A	142266582	7	5	129	1	0	1	1	0	0	0	0	0	1205	1396	49	0	4720	0	ATR	3	142266582	Frame_Shift_Ins	INS	-	TCGA-LN-A8HZ-01A-11D-A36J-09	1105253	142266582	55755848	53	33108											
ZIC4	84107	genome.wustl.edu	37	chr3	147123195	147123195	+	5'UTR	SNP	C	C	T	0	0	0	1	1	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	gagtttcctgaagacggtgaCggccgaagtgcaaccctcca	10	7	12	12	3	0	3	0	2	0	1	2	5	2	3	4	2	2	2	4	2	3	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:147123195C>T	ENST00000473123.1	-	0	112				ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000383075.3_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.V22I|ZIC4_ENST00000484399.1_5'Flank|ZIC4_ENST00000525172.2_5'Flank			Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGACGGTGACGGCCGAAGTG	0.537																																																	0													116	131	126					3																	147123195		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000473123.1:c.-51G>A	3.37:g.147123195C>T			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V22I	ENST00000473123.1	37	c.64	CCDS43160.1	3	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537118	0.27475	.	.	ENSG00000174963	ENST00000425731	T	0.11169	2.8	3.89	-2.09	0.07232	.	.	.	.	.	T	0.07007	0.0178	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.37126	-0.9719	7	0.52906	T	0.07	.	3.1864	0.06602	0.3244:0.3647:0.0:0.311	.	.	.	.	I	22	ENSP00000397695:V22I	ENSP00000397695:V22I	V	-	1	0	ZIC4	148605885	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.660000	0.01974	-0.436000	0.07254	0.655000	0.94253	GTC	ZIC4	-	NULL	ENSG00000174963		0.537	ZIC4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355506.1	-	0	169	0	C			147123195	-1	tier1	-	no_errors	ENST00000425731	ensembl	human	known	74_37	missense	5.19	128	7	SNP	0.000	T	T	147123195	C	T	147123195	1	4	129	0	1	0	0	0	0	0	0	0	17729	536	19	1		1	ZIC4	3	147123195	5'UTR	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	4856613	147123195	50899235	54	33109											
HTR3C	170572	genome.wustl.edu	37	chr3	183776319	183776319	+	Missense_Mutation	SNP	A	A	C	1	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	gggagctcttgggcatcaacAaggccaccccaaagatgtcc	11	6	11	13	0	2	1	1	0	1	1	3	2	3	2	4	3	2	2	4	3	3	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:183776319A>C	ENST00000318351.1	+	6	698	c.664A>C	c.(664-666)Aag>Cag	p.K222Q		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	222					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)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GGGCATCAACAAGGCCACCCC	0.542																																																	0													123	115	118					3																	183776319		2203	4300	6503	SO:0001583	missense	0			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.664A>C	3.37:g.183776319A>C	ENSP00000322617:p.Lys222Gln		A2RRR5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.K222Q	ENST00000318351.1	37	c.664	CCDS3250.1	3	.	.	.	.	.	.	.	.	.	.	.	12.48	1.952070	0.34471	.	.	ENSG00000178084	ENST00000318351	T	0.79554	-1.28	5.26	2.83	0.33086	Neurotransmitter-gated ion-channel ligand-binding (3);	0.650981	0.16060	N	0.231544	T	0.72070	0.3415	L	0.40543	1.245	0.21064	N	0.999791	B	0.31519	0.327	B	0.39465	0.3	T	0.60193	-0.7311	10	0.33141	T	0.24	-15.2869	3.584	0.07963	0.6404:0.2258:0.1338:0.0	.	222	Q8WXA8	5HT3C_HUMAN	Q	222	ENSP00000322617:K222Q	ENSP00000322617:K222Q	K	+	1	0	HTR3C	185259013	0.448000	0.25681	0.837000	0.33122	0.994000	0.84299	1.464000	0.35288	0.428000	0.26173	0.533000	0.62120	AAG	HTR3C	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	ENSG00000178084		0.542	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3C	HGNC	protein_coding	OTTHUMT00000346296.1	-	0	104	0	A	NM_130770		183776319	1	tier1	-	no_errors	ENST00000318351	ensembl	human	known	74_37	missense	23.93	89	28	SNP	0.876	C	C	183776319	A	C	183776319	3	2	129	1	0	0	0	0	1	0	0	0	7473	131	5	4	686	4	HTR3C	3	183776319	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	36653124	183776319	14246111	55	33110											
DHX15	1665	genome.wustl.edu	37	chr4	24543614	24543614	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactaatagctgtcaccaaaAgggactcaactctgattcga	14	10	7	10	1	3	1	2	1	1	0	4	3	3	2	1	1	3	1	1	1	6	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:24543614A>G	ENST00000336812.4	-	8	1523	c.1367T>C	c.(1366-1368)cTt>cCt	p.L456P	DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	456	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TGTCACCAAAAGGGACTCAAC	0.418																																																	0													93	92	92					4																	24543614		2203	4300	6503	SO:0001583	missense	0			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1367T>C	4.37:g.24543614A>G	ENSP00000336741:p.Leu456Pro		Q9NQT7	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L456P	ENST00000336812.4	37	c.1367	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714851	0.89112	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.03358	3.96	6.16	6.16	0.99307	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	H	0.99881	4.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70142	-0.4953	10	0.87932	D	0	-15.132	16.8061	0.85666	1.0:0.0:0.0:0.0	.	456	O43143	DHX15_HUMAN	P	456;445	ENSP00000336741:L456P	ENSP00000336741:L456P	L	-	2	0	DHX15	24152712	1.000000	0.71417	0.983000	0.44433	0.974000	0.67602	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	CTT	DHX15	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000109606		0.418	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1		0	98	0	A	NM_001358		24543614	-1			no_errors	ENST00000336812	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.999	G	G	24543614	A	G	24543614	3	3	129	1	0	0	0	0	1	0	0	0	4515	72	3	4	1048	4	DHX15	4	24543614	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09		24543614	166610662	56	33111											
PHOX2B	8929	genome.wustl.edu	37	chr4	41749533	41749533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgttgaggccgccgtggtCcgtgaagagtttgtaaggaa	8	10	15	8	4	0	3	0	2	0	1	2	4	1	4	3	3	0	3	3	3	3	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:41749533C>A	ENST00000226382.2	-	2	621	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	RP11-227F19.1_ENST00000508038.1_RNA|RP11-227F19.2_ENST00000510602.1_lincRNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	88					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CCGCCGTGGTCCGTGAAGAGT	0.577			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	0													66	67	67					4																	41749533		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.262G>T	4.37:g.41749533C>A	ENSP00000226382:p.Asp88Tyr		Q6PJD9	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1	p.D88Y	ENST00000226382.2	37	c.262	CCDS3463.1	4	.	.	.	.	.	.	.	.	.	.	C	14.07	2.427127	0.43122	.	.	ENSG00000109132	ENST00000226382	D	0.94417	-3.42	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96071	0.8720	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.62089	0.898	D	0.95466	0.8547	10	0.48119	T	0.1	.	19.366	0.94461	0.0:1.0:0.0:0.0	.	88	Q99453	PHX2B_HUMAN	Y	88	ENSP00000226382:D88Y	ENSP00000226382:D88Y	D	-	1	0	PHOX2B	41444290	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.245000	0.78237	2.797000	0.96272	0.655000	0.94253	GAC	PHOX2B	-	NULL	ENSG00000109132		0.577	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOX2B	HGNC	protein_coding	OTTHUMT00000216832.2		0	77	0	C			41749533	-1			no_errors	ENST00000226382	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	A	A	41749533	C	A	41749533	3	1	129	1	0	0	0	0	1	0	0	0	11898	855	30	3	690	3	PHOX2B	4	41749533	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	17205919	41749533	149404743	57	33112											
FRAS1	80144	genome.wustl.edu	37	chr4	79343066	79343066	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcctatccggtatttcacGcaagaggatattaaccaggg	11	11	9	10	2	2	1	1	0	1	1	4	2	3	2	3	3	1	2	3	3	5	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:79343066G>T	ENST00000325942.6	+	34	5030	c.4590G>T	c.(4588-4590)acG>acT	p.T1530T	FRAS1_ENST00000264895.6_Silent_p.T1530T	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1530					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)	p.T1530T(3)		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						GGTATTTCACGCAAGAGGATA	0.552																																																	3	Substitution - coding silent(3)	lung(3)											192	202	199					4																	79343066		2039	4171	6210	SO:0001819	synonymous_variant	0			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.4590G>T	4.37:g.79343066G>T			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.T1530	ENST00000325942.6	37	c.4590	CCDS54772.1	4																																																																																			FRAS1	-	NULL	ENSG00000138759		0.552	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2		0	60	0	G			79343066	1			no_errors	ENST00000264895	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.010	T	T	79343066	G	T	79343066	2	4	129	1	0	0	0	0	0	0	0	1	6066	1074	38	2		2	FRAS1	4	79343066	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	37593533	79343066	111811210	58	33113											
TET2	54790	genome.wustl.edu	37	chr4	106156651	106156652	+	Frame_Shift_Ins	INS	-	-	T																															cctcaagcataacccaccaaINStttttggtagcagtggagag																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:106156651_106156652insT	ENST00000540549.1	+	3	2412_2413	c.1552_1553insT	c.(1552-1554)attfs	p.I518fs	TET2_ENST00000545826.1_Frame_Shift_Ins_p.I518fs|TET2_ENST00000513237.1_Frame_Shift_Ins_p.I539fs|TET2_ENST00000413648.2_Frame_Shift_Ins_p.I518fs|TET2_ENST00000394764.1_Frame_Shift_Ins_p.I518fs|TET2_ENST00000380013.4_Frame_Shift_Ins_p.I518fs|TET2_ENST00000305737.2_Frame_Shift_Ins_p.I518fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	518					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TAACCCACCAATTTTTGGTAGC	0.45			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0																																										SO:0001589	frameshift_variant	0			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.1557dupT	4.37:g.106156656_106156656dupT	ENSP00000442788:p.Ile518fs		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Ins	INS	NULL	p.G520fs	ENST00000540549.1	37	c.1552_1553	CCDS47120.1	4																																																																																			TET2	-	NULL	ENSG00000168769		0.45	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2		0	37	0	-	NM_017628		106156652	1	tier1		no_errors	ENST00000380013	ensembl	human	known	74_37	frame_shift_ins	8.00	23	2	INS	0.000:0.000	T	T	106156652	-	T	106156651	7	5	129	1	0	1	1	0	0	0	0	0	15817	101	4	0	1554	0	TET2	4	106156651	Frame_Shift_Ins	INS	-	TCGA-LN-A8HZ-01A-11D-A36J-09	26813585	106156651	84997625	59	33114											
FBXW7	55294	genome.wustl.edu	37	chr4	153253853	153253853	+	Missense_Mutation	SNP	A	A	G	1	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	gtctttgggttccaggaatgAaagcacatagagtgccaact	12	10	11	8	0	1	2	0	1	1	1	2	3	2	3	2	2	3	2	2	2	4	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:153253853A>G	ENST00000281708.4	-	6	2109	c.880T>C	c.(880-882)Tca>Cca	p.S294P	FBXW7_ENST00000603841.1_Missense_Mutation_p.S294P|FBXW7_ENST00000393956.3_Missense_Mutation_p.S118P|FBXW7_ENST00000603548.1_Missense_Mutation_p.S294P|FBXW7_ENST00000296555.5_Missense_Mutation_p.S176P|FBXW7_ENST00000263981.5_Missense_Mutation_p.S214P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	294	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCCAGGAATGAAAGCACATAG	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"	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											58	58	58					4																	153253853		2203	4300	6503	SO:0001583	missense	0			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.880T>C	4.37:g.153253853A>G	ENSP00000281708:p.Ser294Pro		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S294P	ENST00000281708.4	37	c.880	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	A	27.5	4.835110	0.91117	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	6.02	6.02	0.97574	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.122936	0.64402	D	0.000020	T	0.75421	0.3847	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.67145	0.966;0.996;0.958;0.958	P;P;P;B	0.51895	0.551;0.683;0.52;0.416	T	0.82345	-0.0503	10	0.87932	D	0	-12.7293	16.542	0.84395	1.0:0.0:0.0:0.0	.	118;294;176;214	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	P	294;176;214;118	ENSP00000281708:S294P;ENSP00000296555:S176P;ENSP00000263981:S214P;ENSP00000377528:S118P	ENSP00000263981:S214P	S	-	1	0	FBXW7	153473303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.268000	0.95675	2.304000	0.77564	0.528000	0.53228	TCA	FBXW7	-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	ENSG00000109670		0.348	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1		0	75	0	A			153253853	-1			no_errors	ENST00000281708	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	G	G	153253853	A	G	153253853	3	3	129	1	0	0	0	0	1	0	0	0	5791	246	9	4	1271	4	FBXW7	4	153253853	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	47097202	153253853	37900423	60	33115											
GLRB	2743	genome.wustl.edu	37	chr4	158065089	158065089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctggatcaacccggacgcGagtgctgccagagtgcccct	7	8	12	14	3	2	1	1	0	1	1	2	4	2	3	4	2	4	1	4	2	1	1	rs376097077		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:158065089G>A	ENST00000264428.4	+	8	1152	c.882G>A	c.(880-882)gcG>gcA	p.A294A	GLRB_ENST00000541722.1_Silent_p.A294A|GLRB_ENST00000509282.1_Silent_p.A294A|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	294					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	ACCCGGACGCGAGTGCTGCCA	0.483																																																	0								G	,,	1,4405	2.1+/-5.4	0,1,2202	143	121	129		882,882,882	-11.9	0.1	4		129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GLRB	NM_000824.4,NM_001166060.1,NM_001166061.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	294/498,294/498,294/304	158065089	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.882G>A	4.37:g.158065089G>A			A8K3K2|D3DP23|F5GWE1	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A294	ENST00000264428.4	37	c.882	CCDS3796.1	4																																																																																			GLRB	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000109738		0.483	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1		0	81	0	G	NM_000824		158065089	1			no_errors	ENST00000264428	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.101	A	A	158065089	G	A	158065089	2	1	129	1	0	0	0	0	0	0	0	1	6484	1045	37	1		1	GLRB	4	158065089	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	4811236	158065089	33089187	61	33116											
SORBS2	8470	genome.wustl.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-																															gcaggagctgatgaggtggcGgtggtggtggtggtggtgat																								rs562339021		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	GGT	GGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.				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)		ATGAggtggcggtggtggtggtg	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)												0																																										SO:0001651	inframe_deletion	0				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.1949_1951delACC	4.37:g.186544629_186544631delGGT	ENSP00000284776:p.His650del		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.H650in_frame_del	ENST00000284776.7	37	c.1951_1949	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3		0	20	0	GGT	NM_003603		186544622	-1	tier1		no_errors	ENST00000284776	ensembl	human	known	74_37	in_frame_del	28.57	5	2	DEL	1.000:1.000:1.000	-	-	186544622	GGT	-	186544620	7	5	129	1	0	1	0	1	0	0	0	0	14973	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-LN-A8HZ-01A-11D-A36J-09	28479531	186544620	4609656	62	33117											
ANKH	56172	genome.wustl.edu	37	chr5	14769157	14769157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggctttggtcctgtctctCttgctgttcacaaacaccag	7	13	8	13	1	3	0	1	0	2	0	5	0	4	0	2	2	2	3	2	2	1	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:14769157C>G	ENST00000284268.6	-	2	570	c.240G>C	c.(238-240)aaG>aaC	p.K80N		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	80					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCCTGTCTCTCTTGCTGTTCA	0.572																																																	0													91	82	85					5																	14769157		2203	4300	6503	SO:0001583	missense	0			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.240G>C	5.37:g.14769157C>G	ENSP00000284268:p.Lys80Asn		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	pfam_ANKH	p.K80N	ENST00000284268.6	37	c.240	CCDS3885.1	5	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639654	0.67244	.	.	ENSG00000154122	ENST00000284268	D	0.95918	-3.85	5.5	3.48	0.39840	.	0.048787	0.85682	D	0.000000	D	0.94483	0.8224	L	0.54323	1.7	0.80722	D	1	P	0.42078	0.77	P	0.48598	0.583	D	0.93317	0.6689	10	0.48119	T	0.1	0.2564	10.2717	0.43487	0.0:0.7912:0.0:0.2088	.	80	Q9HCJ1	ANKH_HUMAN	N	80	ENSP00000284268:K80N	ENSP00000284268:K80N	K	-	3	2	ANKH	14822157	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	1.688000	0.37690	1.332000	0.45431	0.650000	0.86243	AAG	ANKH	-	pfam_ANKH	ENSG00000154122		0.572	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKH	HGNC	protein_coding	OTTHUMT00000207063.1	-	0	70	0	C	NM_054027		14769157	-1	tier1	-	no_errors	ENST00000284268	ensembl	human	known	74_37	missense	18.46	53	12	SNP	1.000	G	G	14769157	C	G	14769157	3	3	129	1	0	0	0	0	1	0	0	0	627	912	32	5	1282	5	ANKH	5	14769157	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09		14769157	166146103	63	33118											
MTMR12	54545	genome.wustl.edu	37	chr5	32230000	32230000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaatgtcgctggagcaGagcgaaaggaaacaaagacg	17	3	15	6	3	0	3	0	0	0	3	1	7	0	6	0	3	3	2	0	3	4	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:32230000G>T	ENST00000382142.3	-	16	2298	c.2128C>A	c.(2128-2130)Ctg>Atg	p.L710M	MTMR12_ENST00000264934.5_Missense_Mutation_p.L600M|MTMR12_ENST00000280285.5_Missense_Mutation_p.L656M|MTMR12_ENST00000510216.1_5'Flank	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	710						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CGCTGGAGCAGAGCGAAAGGA	0.577																																																	0													94	89	91					5																	32230000		2203	4300	6503	SO:0001583	missense	0			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.2128C>A	5.37:g.32230000G>T	ENSP00000371577:p.Leu710Met		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	pfam_Myotubularin_assoc	p.L710M	ENST00000382142.3	37	c.2128	CCDS34138.1	5	.	.	.	.	.	.	.	.	.	.	G	9.924	1.213077	0.22289	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.95918	-3.85;-3.49;-3.37	5.17	-9.68	0.00528	.	1.010380	0.07944	N	0.979714	D	0.86414	0.5927	N	0.12182	0.205	0.09310	N	1	B;B;B	0.15473	0.011;0.013;0.008	B;B;B	0.17979	0.019;0.02;0.009	T	0.74685	-0.3582	10	0.46703	T	0.11	.	8.2617	0.31788	0.7176:0.0:0.1218:0.1606	.	600;656;710	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	M	656;710;600	ENSP00000280285:L656M;ENSP00000371577:L710M;ENSP00000264934:L600M	ENSP00000264934:L600M	L	-	1	2	MTMR12	32265757	0.000000	0.05858	0.003000	0.11579	0.834000	0.47266	-0.195000	0.09546	-2.353000	0.00615	-0.379000	0.06801	CTG	MTMR12	-	NULL	ENSG00000150712		0.577	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR12	HGNC	protein_coding	OTTHUMT00000366579.1		0	54	0	G	NM_019061		32230000	-1			no_errors	ENST00000382142	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.114	T	T	32230000	G	T	32230000	3	4	129	1	0	0	0	0	1	0	0	0	9979	933	33	3	119	3	MTMR12	5	32230000	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	17460843	32230000	148685260	64	33119											
RICTOR	253260	genome.wustl.edu	37	chr5	38949966	38949966	+	Frame_Shift_Del	DEL	A	A	-																															cttttcagtgtagcatagccAaaagcatctctagaacttgt																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:38949966delA	ENST00000357387.3	-	31	4014	c.3984delT	c.(3982-3984)tttfs	p.F1328fs	RICTOR_ENST00000296782.5_Frame_Shift_Del_p.F1328fs	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TAGCATAGCCAAAAGCATCTC	0.403																																																	0													151	144	146					5																	38949966		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3984delT	5.37:g.38949966delA	ENSP00000349959:p.Phe1328fs			Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.F1328fs	ENST00000357387.3	37	c.3984	CCDS34148.1	5																																																																																			RICTOR	-	NULL	ENSG00000164327		0.403	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1		0	42	0	A	NM_152756		38949966	-1	tier1		no_errors	ENST00000296782	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-	-	38949966	A	-	38949966	7	5	129	1	0	1	0	1	0	0	0	0	13403	127	5	0	1174	0	RICTOR	5	38949966	Frame_Shift_Del	DEL	A	TCGA-LN-A8HZ-01A-11D-A36J-09	6719966	38949966	141965294	65	33120											
C7	730	genome.wustl.edu	37	chr5	40934566	40934566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcgtttcaggtgcttttCaggtaacttgttttccatag	8	16	10	7	1	2	1	2	0	0	1	3	1	3	1	1	2	3	4	1	2	2	8			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:40934566C>T	ENST00000313164.9	+	4	637	c.278C>T	c.(277-279)tCa>tTa	p.S93L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	93	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				AGGTGCTTTTCAGGTAACTTG	0.398																																																	0													212	214	214					5																	40934566		1929	4152	6081	SO:0001583	missense	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.278C>T	5.37:g.40934566C>T	ENSP00000322061:p.Ser93Leu		Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.S93L	ENST00000313164.9	37	c.278	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620296	0.87460	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	D	0.92099	-2.97	5.9	5.04	0.67666	.	0.131446	0.53938	D	0.000052	D	0.92724	0.7687	M	0.80422	2.495	0.80722	D	1	P	0.34757	0.467	B	0.39119	0.291	D	0.92365	0.5900	10	0.56958	D	0.05	-12.8247	14.166	0.65477	0.0:0.9269:0.0:0.0731	.	93	P10643	CO7_HUMAN	L	93	ENSP00000322061:S93L	ENSP00000322061:S93L	S	+	2	0	C7	40970323	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.933000	0.70130	1.503000	0.48686	0.650000	0.86243	TCA	C7	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_MAC_perforin	ENSG00000112936		0.398	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	-	0	124	0	C			40934566	1	tier1	-	no_errors	ENST00000313164	ensembl	human	known	74_37	missense	14.58	82	14	SNP	1.000	T	T	40934566	C	T	40934566	3	4	129	1	0	0	0	0	1	0	0	0	2382	838	29	3	292	3	C7	5	40934566	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	1984600	40934566	139980694	66	33121											
PPWD1	23398	genome.wustl.edu	37	chr5	64878949	64878949	+	Missense_Mutation	SNP	A	A	G	1	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	aaccttctaaagaagaagtcAtggcagctactcaagctgaa	16	8	8	9	0	3	3	2	1	1	2	3	3	3	3	1	1	4	3	1	1	8	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:64878949A>G	ENST00000261308.5	+	8	1507	c.1435A>G	c.(1435-1437)Atg>Gtg	p.M479V	PPWD1_ENST00000535264.1_Missense_Mutation_p.M449V|PPWD1_ENST00000538977.1_Missense_Mutation_p.M323V	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	479					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AGAAGAAGTCATGGCAGCTAC	0.418																																																	0													143	138	140					5																	64878949		2203	4300	6503	SO:0001583	missense	0			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1435A>G	5.37:g.64878949A>G	ENSP00000261308:p.Met479Val		B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M479V	ENST00000261308.5	37	c.1435	CCDS3985.1	5	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767411	0.49574	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977	T;T;T	0.60672	0.17;0.36;2.01	5.84	5.84	0.93424	Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.45137	1.4	0.80722	D	1	B;B	0.23990	0.095;0.057	B;B	0.23574	0.047;0.01	T	0.44452	-0.9327	10	0.25751	T	0.34	.	16.2169	0.82237	1.0:0.0:0.0:0.0	.	449;479	F5H7P7;Q96BP3	.;PPWD1_HUMAN	V	479;449;323	ENSP00000261308:M479V;ENSP00000442371:M449V;ENSP00000444496:M323V	ENSP00000261308:M479V	M	+	1	0	PPWD1	64914705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.831000	0.92068	2.223000	0.72356	0.533000	0.62120	ATG	PPWD1	-	superfamily_Cyclophilin-like_PPIase_dom	ENSG00000113593		0.418	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPWD1	HGNC	protein_coding	OTTHUMT00000253970.2	-	0	123	0	A	NM_015342		64878949	1	tier1	-	no_errors	ENST00000261308	ensembl	human	known	74_37	missense	59.68	25	37	SNP	1.000	G	G	64878949	A	G	64878949	3	3	129	1	0	0	0	0	1	0	0	0	12456	217	8	4	1465	4	PPWD1	5	64878949	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	23944383	64878949	116036311	67	33122											
GPR98	84059	genome.wustl.edu	37	chr5	89975401	89975401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggttgatggaagtggtagtGgtgatggggacatggaattc	9	11	19	2	0	0	2	0	2	0	0	1	5	0	5	0	7	0	2	0	7	3	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:89975401G>T	ENST00000405460.2	+	26	5575	c.5479G>T	c.(5479-5481)Ggt>Tgt	p.G1827C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1827					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)		AAGTGGTAGTGGTGATGGGGA	0.398																																																	0													186	189	188					5																	89975401		1962	4147	6109	SO:0001583	missense	0			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.5479G>T	5.37:g.89975401G>T	ENSP00000384582:p.Gly1827Cys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G1827C	ENST00000405460.2	37	c.5479	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040634	0.93685	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.31769	1.48	6.04	6.04	0.98038	.	0.043136	0.85682	D	0.000000	T	0.61999	0.2392	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63269	-0.6675	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1827	Q8WXG9	GPR98_HUMAN	C	1827	ENSP00000384582:G1827C	ENSP00000296619:G1827C	G	+	1	0	GPR98	90011157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.130000	0.94437	2.873000	0.98535	0.561000	0.74099	GGT	GPR98	-	NULL	ENSG00000164199		0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0	134	0	G	NM_032119		89975401	1			no_errors	ENST00000405460	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	89975401	G	T	89975401	3	4	129	1	0	0	0	0	1	0	0	0	6748	1348	47	3	5581	3	GPR98	5	89975401	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	25096452	89975401	90939859	68	33123											
CHD1	1105	genome.wustl.edu	37	chr5	98204234	98204234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatccagctcttcagattCttcagaaatgggaactggtt	10	13	9	9	0	4	3	2	1	2	2	5	4	5	4	1	2	2	2	1	2	2	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:98204234C>T	ENST00000284049.3	-	30	4362	c.4213G>A	c.(4213-4215)Gaa>Aaa	p.E1405K	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1405					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)	TCTTCAGATTCTTCAGAAATG	0.378																																																	0													124	125	125					5																	98204234		2203	4300	6503	SO:0001583	missense	0			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.4213G>A	5.37:g.98204234C>T	ENSP00000284049:p.Glu1405Lys		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1405K	ENST00000284049.3	37	c.4213	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534201	0.64972	.	.	ENSG00000153922	ENST00000284049	D	0.90844	-2.74	5.32	5.32	0.75619	.	0.000000	0.34245	U	0.004127	D	0.91095	0.7197	M	0.63428	1.95	0.58432	D	0.999999	P	0.48089	0.905	P	0.47044	0.535	D	0.88794	0.3280	10	0.21540	T	0.41	.	19.3709	0.94484	0.0:1.0:0.0:0.0	.	1405	O14646	CHD1_HUMAN	K	1405	ENSP00000284049:E1405K	ENSP00000284049:E1405K	E	-	1	0	CHD1	98232134	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.419000	0.80179	2.671000	0.90904	0.655000	0.94253	GAA	CHD1	-	NULL	ENSG00000153922		0.378	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0	87	0	C	NM_001270		98204234	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	23.68	28	9	SNP	1.000	T	T	98204234	C	T	98204234	3	4	129	1	0	0	0	0	1	0	0	0	3330	922	32	3	943	3	CHD1	5	98204234	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	8228833	98204234	82711026	69	33124											
HSPA9	3313	genome.wustl.edu	37	chr5	137892472	137892472	+	Silent	SNP	A	A	G	1	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	atagaactcacctcatcagcAggtaattggtccttgaattc	12	12	7	10	0	3	2	3	1	0	1	5	2	4	2	2	2	2	2	2	2	4	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:137892472A>G	ENST00000297185.3	-	15	1937	c.1812T>C	c.(1810-1812)ccT>ccC	p.P604P	SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	604					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)			CCTCATCAGCAGGTAATTGGT	0.373																																																	0													126	119	121					5																	137892472		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1812T>C	5.37:g.137892472A>G			B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	p.P604	ENST00000297185.3	37	c.1812	CCDS4208.1	5																																																																																			HSPA9	-	pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK	ENSG00000113013		0.373	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1	-	0	87	0	A	NM_004134		137892472	-1	tier1	-	no_errors	ENST00000297185	ensembl	human	known	74_37	silent	11.11	32	4	SNP	1.000	G	G	137892472	A	G	137892472	2	3	129	1	0	0	0	0	0	0	0	1	7444	175	7	4		4	HSPA9	5	137892472	Silent	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	39688238	137892472	43022788	70	33125											
PCDHA9	9752	genome.wustl.edu	37	chr5	140229519	140229519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcttcacggtgtctgcgcGggacgctgacgcgcaggaga	7	7	15	12	6	3	2	1	1	2	1	3	4	3	3	0	3	1	2	0	3	0	1	rs562563367		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:140229519G>A	ENST00000532602.1	+	1	2472	c.1439G>A	c.(1438-1440)cGg>cAg	p.R480Q	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R480Q|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	480	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)			GTGTCTGCGCGGGACGCTGAC	0.657													.|||	1	0.000199681	0	0	5008	,	,		17824	0.001		0	False		,,,				2504	0				Melanoma(55;1800 1972 14909)												0													58	63	61					5																	140229519		2194	4268	6462	SO:0001583	missense	0			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.1439G>A	5.37:g.140229519G>A	ENSP00000436042:p.Arg480Gln		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R480Q	ENST00000532602.1	37	c.1439	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	G	3.075	-0.190252	0.06299	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.51071	0.72;0.72	3.56	-3.51	0.04696	Cadherin (4);Cadherin-like (1);	0.833607	0.09224	U	0.831572	T	0.24774	0.0601	N	0.25890	0.77	0.09310	N	1	B;B	0.18968	0.004;0.032	B;B	0.08055	0.003;0.002	T	0.18053	-1.0349	10	0.30078	T	0.28	.	0.6453	0.00817	0.2679:0.1817:0.3358:0.2146	.	480;480	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	Q	480	ENSP00000436042:R480Q;ENSP00000367362:R480Q	ENSP00000367362:R480Q	R	+	2	0	PCDHA9	140209703	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.938000	0.00330	-0.468000	0.06922	-0.683000	0.03753	CGG	PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.657	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2		0	198	0	G	NM_031857		140229519	1			no_errors	ENST00000532602	ensembl	human	known	74_37	missense	7.23	77	6	SNP	0.000	A	A	140229519	G	A	140229519	3	1	129	1	0	0	0	0	1	0	0	0	11570	1116	39	1	1441	1	PCDHA9	5	140229519	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	2337047	140229519	40685741	71	33126											
PCDHB4	56131	genome.wustl.edu	37	chr5	140503073	140503073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccaggacccgcacctgcCcctcgcctccctggtctcca	4	6	8	23	2	1	0	0	0	1	0	4	1	2	1	9	2	1	1	9	2	0	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:140503073C>T	ENST00000194152.1	+	1	1493	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	498	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)			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)			CCGCACCTGCCCCTCGCCTCC	0.687																																																	0													35	41	39					5																	140503073		2186	4251	6437	SO:0001583	missense	0			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.1493C>T	5.37:g.140503073C>T	ENSP00000194152:p.Pro498Leu		Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P498L	ENST00000194152.1	37	c.1493	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748457	0.49257	.	.	ENSG00000081818	ENST00000194152	T	0.01665	4.7	3.95	0.854	0.19007	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03608	0.0103	L	0.56124	1.755	0.09310	N	1	B	0.30146	0.27	B	0.39971	0.315	T	0.37197	-0.9716	9	0.72032	D	0.01	.	9.7262	0.40333	0.1466:0.5799:0.2735:0.0	.	498	Q9Y5E5	PCDB4_HUMAN	L	498	ENSP00000194152:P498L	ENSP00000194152:P498L	P	+	2	0	PCDHB4	140483257	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.289000	0.18957	0.056000	0.16144	0.650000	0.86243	CCC	PCDHB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081818		0.687	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	-	0	209	0	C	NM_018938		140503073	1	tier1	-	no_errors	ENST00000194152	ensembl	human	known	74_37	missense	21.09	116	31	SNP	0.001	T	T	140503073	C	T	140503073	3	4	129	1	0	0	0	0	1	0	0	0	11583	623	22	3	1495	3	PCDHB4	5	140503073	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	273554	140503073	40412187	72	33127											
CSF1R	1436	genome.wustl.edu	37	chr5	149433732	149433734	+	In_Frame_Del	DEL	CTG	CTG	-																															agctctcctcctccagctcaCtgctgctgctgccgctgcca																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:149433732_149433734delCTG	ENST00000286301.3	-	22	3108_3110	c.2817_2819delCAG	c.(2815-2820)agcagt>agt	p.939_940SS>S		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	939					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)	CTCCAGCTCActgctgctgctgc	0.596																																																	0																																										SO:0001651	inframe_deletion	0			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.2817_2819delCAG	5.37:g.149433741_149433743delCTG	ENSP00000286301:p.Ser940del		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	In_Frame_Del	DEL	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S940in_frame_del	ENST00000286301.3	37	c.2819_2817	CCDS4302.1	5																																																																																			CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000182578		0.596	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2		0	38	0	CTG	NM_005211		149433734	-1	tier1		no_errors	ENST00000286301	ensembl	human	known	74_37	in_frame_del	16.67	10	2	DEL	0.996:1.000:1.000	-	-	149433734	CTG	-	149433732	7	5	129	1	0	1	0	1	0	0	0	0	3941	565	20	0	103	0	CSF1R	5	149433732	In_Frame_Del	DEL	CTG	TCGA-LN-A8HZ-01A-11D-A36J-09	8930659	149433732	31481528	73	33128											
GRIA1	2890	genome.wustl.edu	37	chr5	152870474	152870474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacatttttgccttcttctGcaccggtttcctaggcgcgg	4	14	10	13	3	2	0	0	0	2	0	3	0	3	0	3	3	2	3	3	3	1	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:152870474G>A	ENST00000285900.5	+	1	369	c.26G>A	c.(25-27)tGc>tAc	p.C9Y	GRIA1_ENST00000518142.1_Missense_Mutation_p.C9Y|GRIA1_ENST00000518783.1_5'Flank|GRIA1_ENST00000521843.2_5'Flank|GRIA1_ENST00000518862.1_Intron|GRIA1_ENST00000340592.5_Missense_Mutation_p.C9Y|GRIA1_ENST00000448073.4_5'Flank	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	9					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)	GCCTTCTTCTGCACCGGTTTC	0.512																																																	0													239	238	238					5																	152870474		2203	4300	6503	SO:0001583	missense	0				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.26G>A	5.37:g.152870474G>A	ENSP00000285900:p.Cys9Tyr		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.C9Y	ENST00000285900.5	37	c.26	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925265	0.73213	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592	T;T;T	0.12039	2.72;2.73;2.72	5.3	5.3	0.74995	.	0.050353	0.85682	D	0.000000	T	0.07728	0.0194	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.001;0.004;0.003	T	0.35699	-0.9778	10	0.27082	T	0.32	.	17.9324	0.89002	0.0:0.0:1.0:0.0	.	9;9;9	B7Z3F6;P42261-2;P42261	.;.;GRIA1_HUMAN	Y	9	ENSP00000285900:C9Y;ENSP00000427920:C9Y;ENSP00000339343:C9Y	ENSP00000285900:C9Y	C	+	2	0	GRIA1	152850667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.558000	0.60789	2.466000	0.83321	0.563000	0.77884	TGC	GRIA1	-	NULL	ENSG00000155511		0.512	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	-	0	91	0	G			152870474	1	tier1	-	no_errors	ENST00000285900	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	A	A	152870474	G	A	152870474	3	1	129	1	0	0	0	0	1	0	0	0	6794	1319	46	3	28	3	GRIA1	5	152870474	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	3436742	152870474	28044786	74	33129											
MRPL22	29093	genome.wustl.edu	37	chr5	154330416	154330416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatccacacaagtgcttCtcttgacatttctcgaaaat	13	14	4	10	1	2	1	0	1	2	0	5	2	3	1	1	0	1	1	1	0	5	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:154330416C>A	ENST00000523037.1	+	3	154	c.113C>A	c.(112-114)tCt>tAt	p.S38Y	MRPL22_ENST00000522038.1_Missense_Mutation_p.S44Y|MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000439747.3_Missense_Mutation_p.S64Y	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	38					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAAGTGCTTCTCTTGACATT	0.398																																																	0													122	120	121					5																	154330416		2203	4300	6503	SO:0001583	missense	0			AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"Mitochondrial ribosomal proteins / large subunits"	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.113C>A	5.37:g.154330416C>A	ENSP00000431040:p.Ser38Tyr		A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Missense_Mutation	SNP	pfam_Ribosomal_L22,superfamily_Ribosomal_L22	p.S38Y	ENST00000523037.1	37	c.113	CCDS4331.1	5	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050607	0.36181	.	.	ENSG00000082515	ENST00000523037;ENST00000439747;ENST00000522038	T;T;T	0.55234	0.57;0.53;0.73	4.9	4.9	0.64082	.	0.521703	0.22519	N	0.058988	T	0.53174	0.1780	M	0.68593	2.085	0.36445	D	0.865705	B	0.18310	0.027	B	0.15484	0.013	T	0.61367	-0.7077	10	0.66056	D	0.02	-0.7136	15.3607	0.74472	0.0:1.0:0.0:0.0	.	38	Q9NWU5	RM22_HUMAN	Y	38;64;44	ENSP00000431040:S38Y;ENSP00000411177:S64Y;ENSP00000429039:S44Y	ENSP00000411177:S64Y	S	+	2	0	MRPL22	154310609	0.452000	0.25713	0.805000	0.32314	0.681000	0.39784	2.089000	0.41672	2.404000	0.81709	0.591000	0.81541	TCT	MRPL22	-	NULL	ENSG00000082515		0.398	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MRPL22	HGNC	protein_coding	OTTHUMT00000252508.2	-	0	102	0	C			154330416	1	tier1	-	no_errors	ENST00000523037	ensembl	human	known	74_37	missense	57.14	17	24	SNP	0.916	A	A	154330416	C	A	154330416	3	1	129	1	0	0	0	0	1	0	0	0	9826	913	32	3	123	3	MRPL22	5	154330416	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	1459942	154330416	26584844	75	33130											
SLC34A1	6569	genome.wustl.edu	37	chr5	176812815	176812815	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgtggggggcatgtgatgCgagggacggcctttgcctac	5	9	17	10	3	0	1	0	1	0	0	1	3	1	2	3	5	3	1	3	5	1	2	rs200893951		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:176812815C>T	ENST00000324417.5	+	2	164	c.73C>T	c.(73-75)Cga>Tga	p.R25*	SLC34A1_ENST00000512593.1_Nonsense_Mutation_p.R25*	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	25					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)			GCATGTGATGCGAGGGACGGC	0.657																																																	0													76	58	64					5																	176812815		2203	4300	6503	SO:0001587	stop_gained	0			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.73C>T	5.37:g.176812815C>T	ENSP00000321424:p.Arg25*		B4DPE3	Nonsense_Mutation	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.R25*	ENST00000324417.5	37	c.73	CCDS4418.1	5	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707278	0.48412	.	.	ENSG00000131183	ENST00000504577;ENST00000512593;ENST00000324417	.	.	.	4.95	4.07	0.47477	.	1.092390	0.06994	N	0.822102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8711	11.0463	0.47861	0.0:0.9123:0.0:0.0877	.	.	.	.	X	25	.	ENSP00000321424:R25X	R	+	1	2	SLC34A1	176745421	0.202000	0.23423	0.006000	0.13384	0.027000	0.11550	2.341000	0.43983	1.079000	0.41038	0.561000	0.74099	CGA	SLC34A1	-	NULL	ENSG00000131183		0.657	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1		0	103	0	C	NM_003052		176812815	1			no_errors	ENST00000324417	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.014	T	T	176812815	C	T	176812815	4	4	129	1	0	0	0	0	0	1	0	0	14612	760	27	1	75	1	SLC34A1	5	176812815	Nonsense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	22482399	176812815	4102445	76	33131											
HIST1H4B	8366	genome.wustl.edu	37	chr6	26027418	26027418	+	Frame_Shift_Del	DEL	T	T	-																															tggatgttatcccgcagcacTtttcggtgacgcttggcacc																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:26027418delT	ENST00000377364.3	-	1	62	c.63delA	c.(61-63)aaafs	p.K21fs		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	21					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)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CCCGCAGCACTTTTCGGTGAC	0.527																																																	0													71	64	67					6																	26027418		2203	4300	6503	SO:0001589	frameshift_variant	0			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.63delA	6.37:g.26027418delT	ENSP00000366581:p.Lys21fs		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Frame_Shift_Del	DEL	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.V22fs	ENST00000377364.3	37	c.63	CCDS4572.1	6																																																																																			HIST1H4B	-	superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4	ENSG00000124529		0.527	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4B	HGNC	protein_coding	OTTHUMT00000040079.2		0	95	0	T	NM_003544		26027418	-1	tier1		no_errors	ENST00000377364	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-	-	26027418	T	-	26027418	7	5	129	1	0	1	0	1	0	0	0	0	7193	1606	56	0	252	0	HIST1H4B	6	26027418	Frame_Shift_Del	DEL	T	TCGA-LN-A8HZ-01A-11D-A36J-09		26027418	145087649	77	33132											
HIST1H2BC	8347	genome.wustl.edu	37	chr6	26124066	26124066	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	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	cttcttgccatctttcttctGcgctttggtcactgccttct	2	19	6	14	1	6	0	1	0	5	0	6	0	6	0	2	1	3	1	2	1	0	6	rs375299991		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:26124066G>A	ENST00000314332.5	-	1	72	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2BC_ENST00000396984.1_Nonsense_Mutation_p.Q23*			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	23					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)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TCTTTCTTCTGCGCTTTGGTC	0.532																																																	0								G	stop/GLN	0,4406		0,0,2203	152	135	141		67	5.8	1	6		141	1,8599		0,1,4299	no	stop-gained	HIST1H2BC	NM_003526.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		23/127	26124066	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.67C>T	6.37:g.26124066G>A	ENSP00000321744:p.Gln23*		P02278|Q3B872|Q4VB69|Q93078|Q93080	Nonsense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.Q23*	ENST00000314332.5	37	c.67	CCDS4584.1	6	.	.	.	.	.	.	.	.	.	.	.	15.51	2.856374	0.51376	0.0	1.16E-4	ENSG00000180596	ENST00000314332;ENST00000396984	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.3155	0.94211	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	ENSP00000321744:Q23X	Q	-	1	0	HIST1H2BC	26232045	1.000000	0.71417	0.998000	0.56505	0.049000	0.14656	3.287000	0.51732	2.879000	0.98667	0.650000	0.86243	CAG	HIST1H2BC	-	superfamily_Histone-fold	ENSG00000180596		0.532	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BC	HGNC	protein_coding	OTTHUMT00000468022.1		0	113	0	G	NM_003526		26124066	-1			no_errors	ENST00000314332	ensembl	human	known	74_37	nonsense	6.12	46	3	SNP	0.999	A	A	26124066	G	A	26124066	4	1	129	1	0	0	0	0	0	1	0	0	7169	1328	46	3	317	3	HIST1H2BC	6	26124066	Nonsense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	96648	26124066	144991001	78	33133											
UBR2	23304	genome.wustl.edu	37	chr6	42652546	42652546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagatatccaagagaatCtaacaaattaataaaccttc	18	12	3	8	0	2	2	1	0	1	2	4	3	3	2	2	0	2	0	2	0	8	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:42652546C>A	ENST00000372899.1	+	44	5048	c.4790C>A	c.(4789-4791)tCt>tAt	p.S1597Y	UBR2_ENST00000372901.1_Missense_Mutation_p.S1597Y|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1597					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)			CCAAGAGAATCTAACAAATTA	0.358																																																	0													54	56	55					6																	42652546		2202	4300	6502	SO:0001583	missense	0			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.4790C>A	6.37:g.42652546C>A	ENSP00000361990:p.Ser1597Tyr		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S1597Y	ENST00000372899.1	37	c.4790	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712960	0.68730	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.49720	0.77;0.77	5.64	4.76	0.60689	.	0.109626	0.64402	D	0.000004	T	0.53899	0.1825	M	0.79926	2.475	0.80722	D	1	D;B	0.53151	0.958;0.245	P;B	0.53360	0.724;0.163	T	0.62723	-0.6794	10	0.56958	D	0.05	-11.6023	15.8697	0.79101	0.1367:0.8632:0.0:0.0	.	1597;1597	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	Y	1597	ENSP00000361990:S1597Y;ENSP00000361992:S1597Y	ENSP00000361990:S1597Y	S	+	2	0	UBR2	42760524	0.627000	0.27129	1.000000	0.80357	0.995000	0.86356	2.164000	0.42387	1.346000	0.45694	0.643000	0.83706	TCT	UBR2	-	NULL	ENSG00000024048		0.358	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	-	0	166	0	C	NM_015255		42652546	1	tier1	-	no_errors	ENST00000372899	ensembl	human	known	74_37	missense	6.74	83	6	SNP	0.997	A	A	42652546	C	A	42652546	3	1	129	1	0	0	0	0	1	0	0	0	16951	913	32	3	5110	3	UBR2	6	42652546	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	16528480	42652546	128462521	79	33134											
XPO5	57510	genome.wustl.edu	37	chr6	43501711	43501711	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggctctgccattttggcTagcatttctggtgcatataa	10	14	9	8	0	2	0	0	0	2	0	2	0	2	0	1	3	3	4	1	3	4	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:43501711T>C	ENST00000265351.7	-	21	2586	c.2376A>G	c.(2374-2376)ctA>ctG	p.L792L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	792					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)			CCATTTTGGCTAGCATTTCTG	0.398																																																	0													142	136	138					6																	43501711		1837	4083	5920	SO:0001819	synonymous_variant	0			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.2376A>G	6.37:g.43501711T>C			Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L792	ENST00000265351.7	37	c.2376	CCDS47430.1	6																																																																																			XPO5	-	superfamily_ARM-type_fold	ENSG00000124571		0.398	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2		0	57	0	T	NM_020750		43501711	-1			no_errors	ENST00000265351	ensembl	human	known	74_37	silent	7.14	26	2	SNP	1.000	C	C	43501711	T	C	43501711	2	2	129	1	0	0	0	0	0	0	0	1	17496	1509	53	4		4	XPO5	6	43501711	Silent	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	849165	43501711	127613356	80	33135											
XPO5	57510	genome.wustl.edu	37	chr6	43528718	43528718	+	Silent	SNP	T	T	C	0	1	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	aggtattttccaaagtttgaTggtgtttctacatcagaatc	11	16	8	6	0	2	2	1	1	1	1	4	2	3	2	1	2	1	3	1	2	4	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:43528718T>C	ENST00000265351.7	-	10	1248	c.1038A>G	c.(1036-1038)ccA>ccG	p.P346P	XPO5_ENST00000424378.2_5'Flank|RP3-337H4.10_ENST00000607635.1_RNA	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	346					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)			CAAAGTTTGATGGTGTTTCTA	0.383																																																	0													138	131	133					6																	43528718		1825	4086	5911	SO:0001819	synonymous_variant	0			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.1038A>G	6.37:g.43528718T>C			Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.P346	ENST00000265351.7	37	c.1038	CCDS47430.1	6																																																																																			XPO5	-	superfamily_ARM-type_fold	ENSG00000124571		0.383	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	-	0	138	0	T	NM_020750		43528718	-1	tier1	-	no_errors	ENST00000265351	ensembl	human	known	74_37	silent	34.92	41	22	SNP	0.058	C	C	43528718	T	C	43528718	2	2	129	1	0	0	0	0	0	0	0	1	17496	1451	51	4		4	XPO5	6	43528718	Silent	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	27007	43528718	127586349	81	33136											
ENPP5	59084	genome.wustl.edu	37	chr6	46135853	46135853	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcataatataatgaaaatgGggcgttggaactttatataa	16	14	8	3	1	1	1	1	1	0	0	1	2	1	2	0	3	1	1	0	3	9	9			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:46135853G>T	ENST00000371383.2	-	3	407	c.147C>A	c.(145-147)ccC>ccA	p.P49P	ENPP5_ENST00000230565.3_Silent_p.P49P|ENPP5_ENST00000492313.1_5'Flank					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AATGAAAATGGGGCGTTGGAA	0.363																																																	0													41	42	42					6																	46135853		2203	4300	6503	SO:0001819	synonymous_variant	0			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.147C>A	6.37:g.46135853G>T				Silent	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.P49	ENST00000371383.2	37	c.147	CCDS4915.1	6																																																																																			ENPP5	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000112796		0.363	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP5	HGNC	protein_coding	OTTHUMT00000040779.2	-	0	142	0	G			46135853	-1	tier1	-	no_errors	ENST00000230565	ensembl	human	known	74_37	silent	5.97	62	4	SNP	0.994	T	T	46135853	G	T	46135853	2	4	129	1	0	0	0	0	0	0	0	1	5149	1219	43	3		3	ENPP5	6	46135853	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	2607135	46135853	124979214	82	33137											
TFAP2D	83741	genome.wustl.edu	37	chr6	50696619	50696619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttgctctgtccctggcCgtttgtcccttcttagttct	2	20	7	12	1	3	0	0	0	3	0	5	0	5	0	3	1	1	3	3	1	2	7			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:50696619C>T	ENST00000008391.3	+	4	877	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TGTCCCTGGCCGTTTGTCCCT	0.473																																																	0													107	106	106					6																	50696619		2203	4300	6503	SO:0001583	missense	0			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.649C>T	6.37:g.50696619C>T	ENSP00000008391:p.Arg217Cys			Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.R217C	ENST00000008391.3	37	c.649	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634253	0.87660	.	.	ENSG00000008197	ENST00000008391	D	0.99051	-5.37	5.97	5.97	0.96955	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98470	1.0600	10	0.87932	D	0	-16.043	20.4388	0.99107	0.0:1.0:0.0:0.0	.	217	Q7Z6R9	AP2D_HUMAN	C	217	ENSP00000008391:R217C	ENSP00000008391:R217C	R	+	1	0	TFAP2D	50804578	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.950000	0.70265	2.836000	0.97738	0.655000	0.94253	CGT	TFAP2D	-	pfam_TF_AP2_C	ENSG00000008197		0.473	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1		0	85	0	C	NM_172238		50696619	1			no_errors	ENST00000008391	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	50696619	C	T	50696619	3	4	129	1	0	0	0	0	1	0	0	0	15837	652	23	1	663	1	TFAP2D	6	50696619	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	4560766	50696619	120418448	83	33138											
FAM135A	57579	genome.wustl.edu	37	chr6	71186910	71186910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataagtagccgaacattgaaGctgcactttagcccccatag	13	9	8	11	1	0	1	0	1	0	0	0	2	0	1	3	0	5	3	3	0	6	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:71186910G>C	ENST00000418814.2	+	8	1031	c.417G>C	c.(415-417)aaG>aaC	p.K139N	FAM135A_ENST00000505868.1_Missense_Mutation_p.K139N|FAM135A_ENST00000370479.3_Missense_Mutation_p.K96N|FAM135A_ENST00000361499.3_Missense_Mutation_p.K139N|FAM135A_ENST00000457062.2_Missense_Mutation_p.K96N|FAM135A_ENST00000505769.1_Missense_Mutation_p.K139N	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	139										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GAACATTGAAGCTGCACTTTA	0.393																																																	0													164	144	151					6																	71186910		2203	4300	6503	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.417G>C	6.37:g.71186910G>C	ENSP00000410768:p.Lys139Asn		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.K139N	ENST00000418814.2	37	c.417	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507668	0.27036	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T;T	0.79554	-1.28;2.19;-1.28;-1.28;2.19;-1.28;-1.28	5.56	3.76	0.43208	.	0.106801	0.64402	D	0.000006	T	0.77322	0.4113	L	0.55481	1.735	0.26515	N	0.974535	P;D;D;D	0.89917	0.952;1.0;0.998;0.998	P;D;D;D	0.87578	0.83;0.998;0.923;0.923	T	0.68884	-0.5291	10	0.20519	T	0.43	.	10.413	0.44305	0.2135:0.0:0.7865:0.0	.	139;139;139;96	D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	N	139;96;139;139;96;139;139	ENSP00000410768:K139N;ENSP00000359510:K96N;ENSP00000423785:K139N;ENSP00000422406:K139N;ENSP00000409201:K96N;ENSP00000354913:K139N;ENSP00000423307:K139N	ENSP00000354913:K139N	K	+	3	2	FAM135A	71243631	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	2.020000	0.41010	0.692000	0.31613	0.460000	0.39030	AAG	FAM135A	-	pfam_DUF3657	ENSG00000082269		0.393	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2	-	0	81	0	G	NM_020819		71186910	1	tier1	-	no_errors	ENST00000418814	ensembl	human	known	74_37	missense	28.26	33	13	SNP	1.000	C	C	71186910	G	C	71186910	3	2	129	1	0	0	0	0	1	0	0	0	5467	962	34	5	435	5	FAM135A	6	71186910	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	20490291	71186910	99928157	84	33139											
CNR1	1268	genome.wustl.edu	37	chr6	88854404	88854404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggcagtgaaggaggccGtgaccccacccagtttgaac	10	5	14	12	2	0	3	0	3	0	0	0	5	0	5	4	4	1	2	4	4	2	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:88854404G>A	ENST00000537554.1	-	2	4152	c.590C>T	c.(589-591)aCg>aTg	p.T197M	CNR1_ENST00000369501.2_Missense_Mutation_p.T197M|CNR1_ENST00000369499.2_Missense_Mutation_p.T197M|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.T197M|CNR1_ENST00000535130.1_Missense_Mutation_p.T197M|CNR1_ENST00000468898.1_Missense_Mutation_p.T164M|CNR1_ENST00000549890.1_Missense_Mutation_p.T197M|CNR1_ENST00000549716.1_Missense_Mutation_p.T136M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	197					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)	GAAGGAGGCCGTGACCCCACC	0.542																																																	0													43	43	43					6																	88854404		2202	4296	6498	SO:0001583	missense	0			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.590C>T	6.37:g.88854404G>A	ENSP00000441046:p.Thr197Met		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.T197M	ENST00000537554.1	37	c.590	CCDS5015.1	6	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322985	0.60634	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	N	0.16790	0.44	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.75484	0.847;0.986	T	0.75519	-0.3289	10	0.62326	D	0.03	.	20.0015	0.97412	0.0:0.0:1.0:0.0	.	164;197	P21554-3;P21554	.;CNR1_HUMAN	M	197;197;197;197;197;164;197;136	ENSP00000358513:T197M;ENSP00000442689:T197M;ENSP00000441046:T197M;ENSP00000358511:T197M;ENSP00000446819:T197M;ENSP00000420188:T164M;ENSP00000412192:T197M;ENSP00000449549:T136M	ENSP00000358511:T197M	T	-	2	0	CNR1	88911123	1.000000	0.71417	0.963000	0.40424	0.772000	0.43724	8.004000	0.88535	2.732000	0.93576	0.563000	0.77884	ACG	CNR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000118432		0.542	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	HGNC	protein_coding	OTTHUMT00000354204.2	-	0	37	0	G			88854404	-1	tier1	-	no_errors	ENST00000369499	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	A	A	88854404	G	A	88854404	3	1	129	1	0	0	0	0	1	0	0	0	3638	1145	40	1	832	1	CNR1	6	88854404	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	17667494	88854404	82260663	85	33140											
VNN1	8876	genome.wustl.edu	37	chr6	133014172	133014172	+	Missense_Mutation	SNP	T	T	C	0	1	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	tcacacattacctgtcatttTctttgaggggtaatgtatgt	9	17	8	7	0	3	1	2	1	1	0	3	1	3	1	1	2	1	2	1	2	3	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:133014172T>C	ENST00000367928.4	-	4	830	c.817A>G	c.(817-819)Aaa>Gaa	p.K273E		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	273	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCTGTCATTTTCTTTGAGGGG	0.378																																																	0													102	92	95					6																	133014172		2203	4300	6503	SO:0001583	missense	0			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.817A>G	6.37:g.133014172T>C	ENSP00000356905:p.Lys273Glu		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.K273E	ENST00000367928.4	37	c.817	CCDS5159.1	6	.	.	.	.	.	.	.	.	.	.	T	0.860	-0.735459	0.03111	.	.	ENSG00000112299	ENST00000367928	D	0.85411	-1.98	6.17	3.83	0.44106	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	1.212130	0.05481	N	0.554881	T	0.69771	0.3148	M	0.61703	1.905	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57745	-0.7758	10	0.36615	T	0.2	-26.02	5.3343	0.15949	0.0921:0.0671:0.262:0.5789	.	273	O95497	VNN1_HUMAN	E	273	ENSP00000356905:K273E	ENSP00000356905:K273E	K	-	1	0	VNN1	133055865	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-0.151000	0.10175	1.107000	0.41642	0.533000	0.62120	AAA	VNN1	-	superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000112299		0.378	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VNN1	HGNC	protein_coding	OTTHUMT00000042263.1	-	0	67	0	T			133014172	-1	tier1	-	no_errors	ENST00000367928	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.000	C	C	133014172	T	C	133014172	3	2	129	1	0	0	0	0	1	0	0	0	17231	1792	62	4	740	4	VNN1	6	133014172	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	44159768	133014172	38100895	86	33141											
MYB	4602	genome.wustl.edu	37	chr6	135511466	135511466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacagatgggcagaaatcGcaaagctactgcctggacgg	13	5	14	9	2	0	2	0	0	0	2	1	4	0	4	1	4	4	3	1	4	4	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:135511466G>A	ENST00000367814.4	+	5	694	c.508G>A	c.(508-510)Gca>Aca	p.A170T	MYB_ENST00000420123.2_Missense_Mutation_p.A146T|MYB_ENST00000527615.1_Missense_Mutation_p.A170T|MYB_ENST00000316528.8_Missense_Mutation_p.A170T|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534044.1_Missense_Mutation_p.A170T|MYB_ENST00000533624.1_Missense_Mutation_p.A170T|MYB_ENST00000341911.5_Missense_Mutation_p.A170T|MYB_ENST00000525369.1_Missense_Mutation_p.A170T|MYB_ENST00000534121.1_Missense_Mutation_p.A170T|MYB_ENST00000528774.1_Missense_Mutation_p.A170T|MYB_ENST00000442647.2_Missense_Mutation_p.A170T	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	170	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with HIPK2 and NLK. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A170T(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGCAGAAATCGCAAAGCTACT	0.418			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	2	Substitution - Missense(2)	large_intestine(2)											55	58	57					6																	135511466		2203	4300	6503	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.508G>A	6.37:g.135511466G>A	ENSP00000356788:p.Ala170Thr		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A170T	ENST00000367814.4	37	c.508	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037006	0.93630	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	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	5.93	5.93	0.95920	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D	0.77004	0.983;0.961;0.983;0.975;0.974;0.802;0.983;0.949;0.989	T	0.76817	-0.2819	10	0.87932	D	0	-14.1146	20.3311	0.98718	0.0:0.0:1.0:0.0	.	170;170;170;170;170;170;170;170;170	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	T	170;170;170;170;170;170;146;170;170;170;170;170;124	ENSP00000339992:A170T;ENSP00000410825:A170T;ENSP00000326328:A170T;ENSP00000356788:A170T;ENSP00000433227:A170T;ENSP00000435938:A170T;ENSP00000434723:A170T;ENSP00000432851:A170T;ENSP00000435055:A170T;ENSP00000436605:A170T	ENSP00000237302:A170T	A	+	1	0	MYB	135553159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	GCA	MYB	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000118513		0.418	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4		0	83	0	G			135511466	1			no_errors	ENST00000341911	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	A	A	135511466	G	A	135511466	3	1	129	1	0	0	0	0	1	0	0	0	10045	1087	38	1	526	1	MYB	6	135511466	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	2497294	135511466	35603601	87	33142											
THBS2	7058	genome.wustl.edu	37	chr6	169648886	169648886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagccctccttctgccGcatgatcttggtgatcttgc	7	12	10	12	1	3	3	0	2	3	1	4	4	4	3	3	1	3	1	3	1	2	3	rs149505756		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:169648886G>A	ENST00000366787.3	-	4	484	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	79	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCCTTCTGCCGCATGATCTTG	0.652																																					Esophageal Squamous(91;219 1934 18562 44706)												0													139	117	125					6																	169648886		2203	4300	6503	SO:0001583	missense	0				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.235C>T	6.37:g.169648886G>A	ENSP00000355751:p.Arg79Trp		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R79W	ENST00000366787.3	37	c.235	CCDS34574.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.77	2.036688	0.35893	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	T	0.02236	4.38	4.55	0.0805	0.14421	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.37809	U	0.001933	T	0.02494	0.0076	M	0.68952	2.095	0.27691	N	0.946101	D	0.64830	0.994	P	0.52758	0.708	T	0.31392	-0.9945	10	0.44086	T	0.13	-28.3786	14.172	0.65514	0.0:0.0:0.4823:0.5177	.	79	P35442	TSP2_HUMAN	W	79	ENSP00000355751:R79W	ENSP00000355751:R79W	R	-	1	2	THBS2	169390811	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	2.867000	0.48428	0.075000	0.16796	-0.311000	0.09066	CGG	THBS2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000186340		0.652	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1		0	65	0	G	NM_003247		169648886	-1			no_errors	ENST00000366787	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.939	A	A	169648886	G	A	169648886	3	1	129	1	0	0	0	0	1	0	0	0	15901	1086	38	1	3363	1	THBS2	6	169648886	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	34137420	169648886	1466181	88	33143											
EIF2AK1	27102	genome.wustl.edu	37	chr7	6066405	6066406	+	Frame_Shift_Ins	INS	-	-	AT																															ctgcagcagctgaatggcagINSatggtctctgcgatgagttc																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr7:6066405_6066406insAT	ENST00000199389.6	-	14	1863_1864	c.1717_1718insAT	c.(1717-1719)tctfs	p.S573fs	EIF2AK1_ENST00000536084.1_Frame_Shift_Ins_p.S449fs	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	573	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)		CTGAATGGCAGATGGTCTCTGC	0.45																																																	0																																										SO:0001589	frameshift_variant	0			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.1716_1717dupAT	7.37:g.6066406_6066407dupAT	ENSP00000199389:p.Ser573fs		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S573fs	ENST00000199389.6	37	c.1718_1717	CCDS5345.1	7																																																																																			EIF2AK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000086232		0.45	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2		0	63	0	-	NM_014413		6066406	-1	tier1		no_errors	ENST00000199389	ensembl	human	known	74_37	frame_shift_ins	39.66	35	23	INS	1.000:0.998	AT	AT	6066406	-	AT	6066405	7	5	129	1	0	1	1	0	0	0	0	0	5010	942	33	0	182	0	EIF2AK1	7	6066405	Frame_Shift_Ins	INS	-	TCGA-LN-A8HZ-01A-11D-A36J-09		6066405	153072258	89	33144											
UPP1	7378	genome.wustl.edu	37	chr7	48147845	48147845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcaccctcctgaaccGcctggaaggggaccagatca	9	7	12	13	1	2	2	2	1	0	1	3	4	3	4	5	3	1	0	5	3	2	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr7:48147845G>T	ENST00000331803.4	+	10	1447	c.824G>T	c.(823-825)cGc>cTc	p.R275L	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.R275L|UPP1_ENST00000395564.4_Missense_Mutation_p.R275L|UPP1_ENST00000429491.2_Missense_Mutation_p.R138L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	275					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)	CTCCTGAACCGCCTGGAAGGG	0.582																																																	0													91	87	88					7																	48147845		2203	4300	6503	SO:0001583	missense	0			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.824G>T	7.37:g.48147845G>T	ENSP00000330032:p.Arg275Leu		D3DVM4|Q15362	Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.R275L	ENST00000331803.4	37	c.824	CCDS5507.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.544266	0.96488	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.4	5.4	0.78164	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82914	-0.0221	10	0.87932	D	0	-31.4235	18.1763	0.89762	0.0:0.0:1.0:0.0	.	138;275	Q86Y75;Q16831	.;UPP1_HUMAN	L	275;275;275;138	ENSP00000330032:R275L;ENSP00000342878:R275L;ENSP00000378931:R275L;ENSP00000406224:R138L	ENSP00000330032:R275L	R	+	2	0	UPP1	48114370	1.000000	0.71417	0.973000	0.42090	0.956000	0.61745	9.359000	0.97115	2.525000	0.85131	0.650000	0.86243	CGC	UPP1	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	ENSG00000183696		0.582	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP1	HGNC	protein_coding	OTTHUMT00000251360.1	-	0	86	0	G	NM_003364		48147845	1	tier1	-	no_errors	ENST00000331803	ensembl	human	known	74_37	missense	36.90	52	31	SNP	1.000	T	T	48147845	G	T	48147845	3	4	129	1	0	0	0	0	1	0	0	0	17061	1087	38	2	850	2	UPP1	7	48147845	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	42081440	48147845	110990818	90	33145											
RABGEF1	27342	genome.wustl.edu	37	chr7	66236988	66236988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccctgcctggcagggtttCtgctccaagtgctggaggga	7	9	14	11	0	1	0	0	0	1	0	2	2	2	2	3	4	4	4	3	4	2	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr7:66236988C>G	ENST00000284957.5	+	2	179	c.102C>G	c.(100-102)ttC>ttG	p.F34L	KCTD7_ENST00000510829.2_Missense_Mutation_p.F34L|KCTD7_ENST00000380828.2_Missense_Mutation_p.F34L|RABGEF1_ENST00000439720.2_Missense_Mutation_p.F47L|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Missense_Mutation_p.F48L|RABGEF1_ENST00000450873.2_Missense_Mutation_p.F34L|KCTD7_ENST00000451741.2_Missense_Mutation_p.F34L			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	172					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GGCAGGGTTTCTGCTCCAAGT	0.542																																																	0													75	72	73					7																	66236988		2203	4299	6502	SO:0001583	missense	0			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.102C>G	7.37:g.66236988C>G	ENSP00000284957:p.Phe34Leu		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	pfam_VPS9,pfam_Znf_A20,smart_Znf_A20,smart_VPS9_subgr,pfscan_VPS9,pfscan_Znf_A20	p.F34L	ENST00000284957.5	37	c.102	CCDS5535.1	7	.	.	.	.	.	.	.	.	.	.	.	13.70	2.316159	0.40996	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000442563;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.28	4.4	0.53042	.	0.105155	0.64402	D	0.000003	T	0.09468	0.0233	N	0.00729	-1.24	0.42181	D	0.99168	B	0.09022	0.002	B	0.12156	0.007	T	0.09314	-1.0680	10	0.31617	T	0.26	-13.9997	8.6534	0.34049	0.0:0.7634:0.0:0.2366	.	48	B4DZM7	.	L	39;34;34;34;34;34;34;34;47;48	ENSP00000370208:F34L;ENSP00000421124:F34L;ENSP00000398177:F34L;ENSP00000284957:F34L;ENSP00000415815:F34L;ENSP00000415503:F34L;ENSP00000403429:F47L;ENSP00000390480:F48L	ENSP00000370207:F39L	F	+	3	2	RABGEF1;KCTD7	65874423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.132000	0.42083	1.232000	0.43678	0.650000	0.86243	TTC	KCTD7	-	pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20	ENSG00000243335		0.542	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD7	HGNC	protein_coding	OTTHUMT00000251737.3	-	0	125	0	C	NM_014504		66236988	1	tier1	-	no_errors	ENST00000380828	ensembl	human	known	74_37	missense	8.51	86	8	SNP	1.000	G	G	66236988	C	G	66236988	3	3	129	1	0	0	0	0	1	0	0	0	13011	912	32	5	104	5	RABGEF1	7	66236988	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	18089143	66236988	92901675	91	33146											
POT1	25913	genome.wustl.edu	37	chr7	124532386	124532386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagacattgacaattgtacCacccttaagttgattcaggg	13	12	8	8	0	1	3	1	2	0	1	1	3	1	3	2	1	1	2	2	1	4	7			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr7:124532386C>A	ENST00000357628.3	-	6	656	c.58G>T	c.(58-60)Ggt>Tgt	p.G20C	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	20					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						ACAATTGTACCACCCTTAAGT	0.353																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													155	167	163					7																	124532386		2203	4300	6503	SO:0001583	missense	0			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.58G>T	7.37:g.124532386C>A	ENSP00000350249:p.Gly20Cys		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.G20C	ENST00000357628.3	37	c.58	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162952	0.78226	.	.	ENSG00000128513	ENST00000357628;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391;ENST00000446993	T	0.54479	0.57	5.7	5.7	0.88788	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75731	-0.3215	10	0.87932	D	0	1.8003	17.3235	0.87241	0.0:1.0:0.0:0.0	.	20	Q9NUX5	POTE1_HUMAN	C	20;20;20;20;19;20	ENSP00000350249:G20C	ENSP00000265391:G19C	G	-	1	0	POT1	124319622	0.993000	0.37304	0.657000	0.29651	0.978000	0.69477	4.974000	0.63771	2.697000	0.92050	0.557000	0.71058	GGT	POT1	-	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	ENSG00000128513		0.353	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	-	0	130	0	C			124532386	-1	tier1	-	no_errors	ENST00000357628	ensembl	human	known	74_37	missense	6.80	96	7	SNP	0.965	A	A	124532386	C	A	124532386	3	1	129	1	0	0	0	0	1	0	0	0	12299	594	21	3	1902	3	POT1	7	124532386	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	58295398	124532386	34606277	92	33147											
DGKI	9162	genome.wustl.edu	37	chr7	137269972	137269972	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttacatacgccatcttCaagttcttctggaggcaagt	11	12	7	11	1	4	0	1	0	3	0	4	1	4	1	2	2	3	2	2	2	5	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr7:137269972C>A	ENST00000288490.5	-	14	1546	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	DGKI_ENST00000453654.2_Nonsense_Mutation_p.E216*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.E516*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.E516*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	516					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACGCCATCTTCAAGTTCTTCT	0.473																																																	0													145	137	140					7																	137269972		2203	4300	6503	SO:0001587	stop_gained	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1546G>T	7.37:g.137269972C>A	ENSP00000288490:p.Glu516*		A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E516*	ENST00000288490.5	37	c.1546	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.705946	0.98444	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	6.07	6.07	0.98685	.	0.208101	0.49916	D	0.000125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.4308	0.94765	0.0:1.0:0.0:0.0	.	.	.	.	X	216;464;516;516;516	.	ENSP00000288490:E516X	E	-	1	0	DGKI	136920512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.824000	0.75288	2.885000	0.99019	0.655000	0.94253	GAA	DGKI	-	NULL	ENSG00000157680		0.473	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3		0	134	0	C	NM_004717		137269972	-1			no_errors	ENST00000288490	ensembl	human	known	74_37	nonsense	5.00	76	4	SNP	1.000	A	A	137269972	C	A	137269972	4	1	129	1	0	0	0	0	0	1	0	0	4485	835	29	3	1735	3	DGKI	7	137269972	Nonsense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	12737586	137269972	21868691	93	33148											
SLC4A2	6522	genome.wustl.edu	37	chr7	150769142	150769142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagcttcctggtccgcttCgtctcccgcttcacccagga	4	10	11	16	3	2	0	1	0	1	0	6	2	4	2	4	3	1	3	4	3	0	3	rs372791857		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr7:150769142C>T	ENST00000485713.1	+	16	3494	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F	SLC4A2_ENST00000392826.2_Silent_p.F809F|SLC4A2_ENST00000413384.2_Silent_p.F818F|SLC4A2_ENST00000461735.1_Silent_p.F804F|SLC4A2_ENST00000310317.5_Silent_p.F736F|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	818	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)		TGGTCCGCTTCGTCTCCCGCT	0.602													C|||	1	0.000199681	0	0	5008	,	,		15251	0		0	False		,,,				2504	0.001																0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	180	178	179		2454,2427,2412,2454	-6.2	1	7		179	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC4A2	NM_001199692.1,NM_001199693.1,NM_001199694.1,NM_003040.3	,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,	818/1242,809/1233,804/1228,818/1242	150769142	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				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.2454C>T	7.37:g.150769142C>T			B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.F818	ENST00000485713.1	37	c.2454	CCDS5917.1	7																																																																																			SLC4A2	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000164889		0.602	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	-	0	67	0	C	NM_003040		150769142	1	tier1	-	no_errors	ENST00000413384	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.970	T	T	150769142	C	T	150769142	2	4	129	1	0	0	0	0	0	0	0	1	14699	883	31	1		1	SLC4A2	7	150769142	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	13499170	150769142	8369521	94	33149											
SGK223	157285	genome.wustl.edu	37	chr8	8185637	8185637	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagccagtggccactgccTttgaaagctttctccagagg	9	9	12	11	0	1	2	0	1	1	1	2	3	1	3	4	3	3	1	4	3	2	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:8185637T>A	ENST00000520004.1	-	5	2919	c.2655A>T	c.(2653-2655)aaA>aaT	p.K885N	SGK223_ENST00000330777.4_Missense_Mutation_p.K885N			Q86YV5	SG223_HUMAN		887							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGCCACTGCCTTTGAAAGCTT	0.627																																					GBM(34;731 755 10259 33573 33867)												0													109	118	115					8																	8185637		1888	4098	5986	SO:0001583	missense	0																														ENST00000520004.1:c.2655A>T	8.37:g.8185637T>A	ENSP00000428054:p.Lys885Asn		Q8N3N5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.K885N	ENST00000520004.1	37	c.2655	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	T	14.36	2.512293	0.44660	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.58797	0.31;0.31	4.44	-0.627	0.11541	.	0.496774	0.19600	N	0.110411	T	0.45975	0.1369	L	0.51422	1.61	0.30078	N	0.809466	P	0.44734	0.842	B	0.39531	0.302	T	0.50171	-0.8859	10	0.56958	D	0.05	.	8.9504	0.35785	0.0:0.3054:0.0:0.6946	.	885	Q86YV5	SG223_HUMAN	N	885	ENSP00000330930:K885N;ENSP00000428054:K885N	ENSP00000330930:K885N	K	-	3	2	AC068353.1	8223047	1.000000	0.71417	0.990000	0.47175	0.470000	0.32858	1.609000	0.36858	-0.088000	0.12506	-0.376000	0.06991	AAA	SGK223	-	NULL	ENSG00000182319		0.627	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_gn	protein_coding	OTTHUMT00000374864.1	-	0	103	0	T			8185637	-1	tier1	-	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.995	A	A	8185637	T	A	8185637	3	1	129	1	0	0	0	0	1	0	0	0	14255	1606	56	5	1561	5	SGK223	8	8185637	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09		8185637	138178385	95	33150											
HGSNAT	138050	genome.wustl.edu	37	chr8	43052113	43052113	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaaaatactattgtattAcaaggctcggaccaaagaca	18	8	8	7	1	0	1	0	0	0	1	1	3	0	3	1	3	2	2	1	3	8	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:43052113A>T	ENST00000458501.2	+	15	1571	c.1571A>T	c.(1570-1572)tAc>tTc	p.Y524F	HGSNAT_ENST00000521576.1_Missense_Mutation_p.Y213F|HGSNAT_ENST00000379644.4_Missense_Mutation_p.Y496F|HGSNAT_ENST00000297798.7_Missense_Mutation_p.Y228F			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	524					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)			CTATTGTATTACAAGGCTCGG	0.383																																																	0													96	97	96					8																	43052113		1876	4111	5987	SO:0001583	missense	0				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.1571A>T	8.37:g.43052113A>T	ENSP00000389524:p.Tyr524Phe		B4E2V0	Missense_Mutation	SNP	pfam_DUF1624	p.Y524F	ENST00000458501.2	37	c.1571		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.28|10.28	1.307161|1.307161	0.23821|0.23821	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000524016|ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798	.|D;D;D;D	.|0.87571	.|-2.27;-2.27;-2.27;-2.27	5.26|5.26	4.07|4.07	0.47477|0.47477	.|.	.|0.134805	.|0.51477	.|D	.|0.000082	T|T	0.78362|0.78362	0.4271|0.4271	L|L	0.35288|0.35288	1.05|1.05	0.43508|0.43508	D|D	0.995762|0.995762	.|P	.|0.34780	.|0.468	.|B	.|0.37091	.|0.241	T|T	0.69771|0.69771	-0.5055|-0.5055	5|10	.|0.09843	.|T	.|0.71	-15.7079|-15.7079	9.2479|9.2479	0.37539|0.37539	0.8177:0.1823:0.0:0.0|0.8177:0.1823:0.0:0.0	.|.	.|524	.|Q68CP4	.|HGNAT_HUMAN	F|F	234|524;496;213;228	.|ENSP00000389524:Y524F;ENSP00000368965:Y496F;ENSP00000429029:Y213F;ENSP00000297798:Y228F	.|ENSP00000297798:Y228F	L|Y	+|+	3|2	2|0	HGSNAT|HGSNAT	43171270|43171270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.162000|0.162000	0.22319|0.22319	6.900000|6.900000	0.75687|0.75687	0.902000|0.902000	0.36520|0.36520	0.533000|0.533000	0.62120|0.62120	TTA|TAC	HGSNAT	-	NULL	ENSG00000165102		0.383	HGSNAT-202	KNOWN	basic	protein_coding	HGSNAT	HGNC	protein_coding		-	0	130	0	A	XM_372038		43052113	1	tier1	-	no_errors	ENST00000458501	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	43052113	A	T	43052113	3	4	129	1	0	0	0	0	1	0	0	0	7115	391	14	5	1545	5	HGSNAT	8	43052113	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	34866476	43052113	103311909	96	33151											
ATP6V1H	51606	genome.wustl.edu	37	chr8	54730058	54730058	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	ttcttgctacatcttgcataGtcaaagaaaatgctaacacg	14	12	6	9	1	3	1	1	0	2	1	3	1	3	1	0	0	5	3	0	0	6	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:54730058G>C	ENST00000359530.2	-	5	602	c.339C>G	c.(337-339)gaC>gaG	p.D113E	ATP6V1H_ENST00000355221.3_Missense_Mutation_p.D113E|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.D73E|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.D113E	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	113					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)			ATCTTGCATAGTCAAAGAAAA	0.383																																																	0													86	79	82					8																	54730058		2203	4300	6503	SO:0001583	missense	0			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.339C>G	8.37:g.54730058G>C	ENSP00000352522:p.Asp113Glu		B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu	p.D113E	ENST00000359530.2	37	c.339	CCDS6153.1	8	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428991	0.25726	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774;ENST00000520070	.	.	.	5.63	-1.15	0.09709	Armadillo-like helical (1);Armadillo-type fold (1);	0.042505	0.85682	N	0.000000	T	0.29223	0.0727	N	0.21240	0.645	0.54753	D	0.999985	B;B	0.24317	0.042;0.101	B;B	0.29663	0.035;0.105	T	0.27536	-1.0071	9	0.02654	T	1	-18.4016	8.5679	0.33552	0.3923:0.1046:0.503:0.0	.	113;113	Q9UI12-2;Q9UI12	.;VATH_HUMAN	E	113;73;113;113;93	.	ENSP00000347359:D113E	D	-	3	2	ATP6V1H	54892611	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	1.408000	0.34668	-0.144000	0.11314	0.655000	0.94253	GAC	ATP6V1H	-	pfam_ATPase_V1-cplx_hsu,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu	ENSG00000047249		0.383	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1H	HGNC	protein_coding	OTTHUMT00000377865.1	-	0	67	0	G	NM_015941		54730058	-1	tier1	-	no_errors	ENST00000359530	ensembl	human	known	74_37	missense	32.26	42	20	SNP	0.993	C	C	54730058	G	C	54730058	3	2	129	1	0	0	0	0	1	0	0	0	1190	1020	36	5	1152	5	ATP6V1H	8	54730058	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	11677945	54730058	91633964	97	33152											
TAF2	6873	genome.wustl.edu	37	chr8	120793408	120793408	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggctggtggtcctgtcCatgtgctcaccattgaattt	6	15	10	10	0	2	1	2	1	0	0	4	1	4	1	3	3	1	2	3	3	1	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:120793408C>G	ENST00000378164.2	-	17	2436	c.2138G>C	c.(2137-2139)tGg>tCg	p.W713S		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	713					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGTCCTGTCCATGTGCTCAC	0.333																																																	0													71	74	73					8																	120793408		2203	4300	6503	SO:0001583	missense	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2138G>C	8.37:g.120793408C>G	ENSP00000367406:p.Trp713Ser		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.W713S	ENST00000378164.2	37	c.2138	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522025	0.64747	.	.	ENSG00000064313	ENST00000378164	T	0.46451	0.87	5.32	5.32	0.75619	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.86953	2.85	0.80722	D	1	P	0.51351	0.944	P	0.50231	0.635	T	0.70583	-0.4832	10	0.72032	D	0.01	-3.3601	19.3729	0.94495	0.0:1.0:0.0:0.0	.	713	Q6P1X5	TAF2_HUMAN	S	713	ENSP00000367406:W713S	ENSP00000367406:W713S	W	-	2	0	TAF2	120862589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.665000	0.90641	0.585000	0.79938	TGG	TAF2	-	superfamily_ARM-type_fold	ENSG00000064313		0.333	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	-	0	92	0	C	NM_003184		120793408	-1	tier1	-	no_errors	ENST00000378164	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	G	G	120793408	C	G	120793408	3	3	129	1	0	0	0	0	1	0	0	0	15571	595	21	5	1501	5	TAF2	8	120793408	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	66063350	120793408	25570614	98	33153											
TG	7038	genome.wustl.edu	37	chr8	133925360	133925360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagagtggctcattccagCttcatctggactccaagacg	9	10	9	13	1	3	2	2	0	1	2	6	3	6	3	3	2	1	2	3	2	1	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:133925360C>A	ENST00000220616.4	+	20	4268	c.4228C>A	c.(4228-4230)Ctt>Att	p.L1410I	TG_ENST00000377869.1_Missense_Mutation_p.L1410I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1410					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)		CTCATTCCAGCTTCATCTGGA	0.562																																																	0													113	95	101					8																	133925360		2203	4300	6503	SO:0001583	missense	0			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.4228C>A	8.37:g.133925360C>A	ENSP00000220616:p.Leu1410Ile		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.L1410I	ENST00000220616.4	37	c.4228	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799517	0.70567	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.66815	-0.23;-0.21	5.81	5.81	0.92471	.	0.118100	0.38436	N	0.001700	T	0.80363	0.4609	M	0.72118	2.19	0.30089	N	0.808523	D	0.89917	1.0	D	0.68943	0.961	T	0.79208	-0.1898	10	0.87932	D	0	.	15.5859	0.76482	0.0:1.0:0.0:0.0	.	1410	P01266	THYG_HUMAN	I	1410;216;1410	ENSP00000367100:L1410I;ENSP00000220616:L1410I	ENSP00000220616:L1410I	L	+	1	0	TG	133994542	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	2.462000	0.45049	2.753000	0.94483	0.650000	0.86243	CTT	TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	95	0	C	NM_003235		133925360	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	133925360	C	A	133925360	3	1	129	1	0	0	0	0	1	0	0	0	15860	797	28	3	4306	3	TG	8	133925360	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	13131952	133925360	12438662	99	33154											
SPATC1	375686	genome.wustl.edu	37	chr8	145095486	145095486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagtcccactctccactgagCccccccagtcgacccaggac	8	6	7	20	1	1	1	0	1	1	0	4	3	2	2	6	1	1	0	6	1	1	1	rs139626189		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:145095486C>T	ENST00000377470.3	+	3	886	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	SPATC1_ENST00000447830.2_Missense_Mutation_p.P262S	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	262						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)			CTCCACTGAGCCCCCCCAGTC	0.622																																																	0								C	SER/PRO,SER/PRO	0,4406		0,0,2203	134	88	104		784,784	0	0	8	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPATC1	NM_001134374.1,NM_198572.2	74,74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	262/442,262/592	145095486	1,13005	2203	4300	6503	SO:0001583	missense	0			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.784C>T	8.37:g.145095486C>T	ENSP00000366690:p.Pro262Ser		B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	NULL	p.P262S	ENST00000377470.3	37	c.784	CCDS6413.2	8	.	.	.	.	.	.	.	.	.	.	C	0.210	-1.037264	0.02013	0.0	1.16E-4	ENSG00000186583	ENST00000377470;ENST00000447830	T	0.41758	0.99	4.04	0.0315	0.14171	.	2.551710	0.01350	N	0.011861	T	0.15003	0.0362	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.16453	-1.0402	10	0.10111	T	0.7	.	0.8715	0.01215	0.2053:0.4108:0.1722:0.2116	.	262;262	B4DWW9;Q76KD6	.;SPERI_HUMAN	S	262	ENSP00000366690:P262S	ENSP00000366690:P262S	P	+	1	0	SPATC1	145167474	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	-0.212000	0.09319	0.104000	0.17725	-2.816000	0.00109	CCC	SPATC1	-	NULL	ENSG00000186583		0.622	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1		0	48	0	C	NM_198572		145095486	1			no_errors	ENST00000377470	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.003	T	T	145095486	C	T	145095486	3	4	129	1	0	0	0	0	1	0	0	0	15064	739	26	3	794	3	SPATC1	8	145095486	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	11170126	145095486	1268536	100	33155											
ACO1	48	genome.wustl.edu	37	chr9	32433728	32433729	+	Frame_Shift_Del	DEL	TG	TG	-																															tttcttttcttttttaagacTgtgaatgaaagctggaatgc																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:32433728_32433729delTG	ENST00000309951.6	+	16	1992_1993	c.1854_1855delTG	c.(1852-1857)actgtgfs	p.V619fs	ACO1_ENST00000379923.1_Frame_Shift_Del_p.V619fs|ACO1_ENST00000541043.1_Frame_Shift_Del_p.V520fs	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	619					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTTTTAAGACTGTGAATGAAAG	0.347																																																	0																																										SO:0001589	frameshift_variant	0			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1854_1855delTG	9.37:g.32433730_32433731delTG	ENSP00000309477:p.Val619fs		D3DRK7|Q14652|Q5VZA7	Frame_Shift_Del	DEL	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.V619fs	ENST00000309951.6	37	c.1854_1855	CCDS6525.1	9																																																																																			ACO1	-	superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000122729		0.347	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	HGNC	protein_coding	OTTHUMT00000051998.3		0	54	0	TG	NM_002197		32433729	1	tier1		no_errors	ENST00000309951	ensembl	human	known	74_37	frame_shift_del	42.31	30	22	DEL	0.998:1.000	-	-	32433729	TG	-	32433728	7	5	129	1	0	1	0	1	0	0	0	0	146	1567	55	0	1912	0	ACO1	9	32433728	Frame_Shift_Del	DEL	TG	TCGA-LN-A8HZ-01A-11D-A36J-09		32433728	108779703	101	33156											
TRPM3	80036	genome.wustl.edu	37	chr9	73213386	73213386	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacttgttcacgccgaaGatgtctaggagacggatata	14	10	10	7	3	2	2	1	0	1	2	2	5	2	3	1	2	1	1	1	2	6	6	rs34994337	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:73213386G>T	ENST00000377111.2	-	20	3204	c.2961C>A	c.(2959-2961)atC>atA	p.I987I	TRPM3_ENST00000377105.1_Silent_p.I846I|TRPM3_ENST00000423814.3_Silent_p.I1014I|TRPM3_ENST00000377106.1_Silent_p.I859I|TRPM3_ENST00000358082.3_Silent_p.I849I|TRPM3_ENST00000408909.2_Silent_p.I846I|TRPM3_ENST00000357533.2_Silent_p.I991I|TRPM3_ENST00000396285.1_Silent_p.I834I|TRPM3_ENST00000360823.2_Silent_p.I849I|TRPM3_ENST00000377110.3_Silent_p.I987I|TRPM3_ENST00000396292.4_Silent_p.I859I|TRPM3_ENST00000396280.5_Silent_p.I836I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1012					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						TCACGCCGAAGATGTCTAGGA	0.458																																																	0													131	131	131					9																	73213386		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2961C>A	9.37:g.73213386G>T			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	pfam_Ion_trans_dom	p.I1014	ENST00000377111.2	37	c.3042		9	.	.	.	.	.	.	.	.	.	.	G	9.055	0.993072	0.19043	.	.	ENSG00000083067	ENST00000396280	.	.	.	4.87	2.99	0.34606	.	.	.	.	.	T	0.60715	0.2290	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58509	-0.7624	4	.	.	.	-20.0104	11.3446	0.49552	0.2144:0.0:0.7856:0.0	.	.	.	.	I	836	.	.	L	-	1	0	TRPM3	72403206	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.781000	0.62389	1.178000	0.42870	0.573000	0.79308	CTT	TRPM3	-	pfam_Ion_trans_dom	ENSG00000083067		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0	58	0	G	NM_206945		73213386	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	silent	12.50	28	4	SNP	1.000	T	T	73213386	G	T	73213386	2	4	129	1	0	0	0	0	0	0	0	1	16635	932	33	3		3	TRPM3	9	73213386	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	40779658	73213386	68000045	102	33157											
GAS1	2619	genome.wustl.edu	37	chr9	89561648	89561648	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	acagccaggcgcccggcactGtccccccgcgggcctcgccg	4	3	13	21	6	0	0	0	0	0	0	2	0	1	0	7	3	1	1	7	3	0	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:89561648G>T	ENST00000298743.7	-	1	456	c.47C>A	c.(46-48)aCa>aAa	p.T16K	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	16					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						GCCCGGCACTGTccccccgcg	0.796																																																	0													1	1	1					9																	89561648		164	387	551	SO:0001583	missense	0				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.47C>A	9.37:g.89561648G>T	ENSP00000298743:p.Thr16Lys		B9EGM4|Q6B086	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1	p.T16K	ENST00000298743.7	37	c.47	CCDS6674.1	9	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609869	0.28712	.	.	ENSG00000180447	ENST00000298743	D	0.82526	-1.62	3.04	3.04	0.35103	.	0.906785	0.09144	U	0.842598	T	0.69495	0.3117	N	0.19112	0.55	0.09310	N	1	B	0.28636	0.218	B	0.24394	0.053	T	0.61133	-0.7124	10	0.66056	D	0.02	.	5.4222	0.16405	0.1173:0.0:0.682:0.2008	.	16	P54826	GAS1_HUMAN	K	16	ENSP00000298743:T16K	ENSP00000298743:T16K	T	-	2	0	GAS1	88751468	0.777000	0.28628	0.888000	0.34837	0.602000	0.36980	2.697000	0.47060	1.239000	0.43787	0.298000	0.19748	ACA	GAS1	-	NULL	ENSG00000180447		0.796	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS1	HGNC	protein_coding	OTTHUMT00000052928.1	-	0	54	0	G	NM_002048		89561648	-1	tier1	-	no_errors	ENST00000298743	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.140	T	T	89561648	G	T	89561648	3	4	129	1	0	0	0	0	1	0	0	0	6269	1377	48	3	994	3	GAS1	9	89561648	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	16348262	89561648	51651783	103	33158											
CDC14B	8555	genome.wustl.edu	37	chr9	99296415	99296415	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcttaaaatattgaatataaGtctcaggagaatgttggtgg	14	14	10	3	0	2	2	1	1	2	1	3	3	2	2	0	3	0	1	0	3	7	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:99296415G>T	ENST00000375241.1	-	9	1191	c.740C>A	c.(739-741)aCt>aAt	p.T247N	CDC14B_ENST00000265659.2_Missense_Mutation_p.T247N|CDC14B_ENST00000375236.1_Missense_Mutation_p.T247N|CDC14B_ENST00000375240.3_Missense_Mutation_p.T247N|CDC14B_ENST00000463569.1_Missense_Mutation_p.T247N|CDC14B_ENST00000375242.3_Missense_Mutation_p.T210N	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	247	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTGAATATAAGTCTCAGGAGA	0.348																																																	0													47	46	46					9																	99296415		2203	4300	6503	SO:0001583	missense	0			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1719	protein-coding gene	gene with protein product		603505	"CDC14 (cell division cycle 14, S. cerevisiae) homolog B", "CDC14 cell division cycle 14 homolog B (S. cerevisiae)"			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.740C>A	9.37:g.99296415G>T	ENSP00000364389:p.Thr247Asn		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.T247N	ENST00000375241.1	37	c.740	CCDS6722.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.61|14.61	2.585900|2.585900	0.46110|0.46110	.|.	.|.	ENSG00000081377|ENSG00000081377	ENST00000452280|ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	.|T;T;T;T;T;T	.|0.21543	.|2.0;2.0;2.0;2.0;2.0;2.0	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.049285	.|0.85682	.|D	.|0.000000	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.17312|0.17312	0.475|0.475	0.49582|0.49582	D|D	0.9998|0.9998	.|B;B;B	.|0.17038	.|0.0;0.02;0.0	.|B;B;B	.|0.23852	.|0.002;0.049;0.001	T|T	0.05321|0.05321	-1.0892|-1.0892	5|10	.|0.39692	.|T	.|0.17	-10.5834|-10.5834	19.2011|19.2011	0.93712|0.93712	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|247;247;210	.|O60729-2;O60729;A8MQ20	.|.;CC14B_HUMAN;.	E|N	224|247;247;247;210;247;247	.|ENSP00000265659:T247N;ENSP00000364389:T247N;ENSP00000364388:T247N;ENSP00000364390:T210N;ENSP00000420572:T247N;ENSP00000364384:T247N	.|ENSP00000265659:T247N	D|T	-|-	3|2	2|0	CDC14B|CDC14B	98336236|98336236	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.683000|0.683000	0.39861|0.39861	9.263000|9.263000	0.95617|0.95617	2.773000|2.773000	0.95371|0.95371	0.585000|0.585000	0.79938|0.79938	GAC|ACT	CDC14B	-	smart_Dual-sp_phosphatase_subgr_cat	ENSG00000081377		0.348	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC14B	HGNC	protein_coding	OTTHUMT00000053278.2	-	0	57	0	G	NM_033331		99296415	-1	tier1	-	no_errors	ENST00000375241	ensembl	human	known	74_37	missense	69.77	13	30	SNP	1.000	T	T	99296415	G	T	99296415	3	4	129	1	0	0	0	0	1	0	0	0	3064	1029	36	3	780	3	CDC14B	9	99296415	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	9734767	99296415	41917016	104	33159											
SMC2	10592	genome.wustl.edu	37	chr9	106887320	106887321	+	Frame_Shift_Ins	INS	-	-	A																															gagaactgaaagatgctcagINSaaaaaactggattgtgccaa																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:106887320_106887321insA	ENST00000286398.7	+	18	2673_2674	c.2385_2386insA	c.(2386-2388)aaafs	p.K796fs	SMC2_ENST00000374787.3_Frame_Shift_Ins_p.K796fs|SMC2_ENST00000374793.3_Frame_Shift_Ins_p.K796fs|SMC2_ENST00000303219.8_Frame_Shift_Ins_p.K796fs	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	796					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.Q795Q(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAGATGCTCAGAAAAAACTGGA	0.327																																																	1	Substitution - coding silent(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2391dupA	9.37:g.106887326_106887326dupA	ENSP00000286398:p.Lys796fs		Q6IEE0|Q9P1P2	Frame_Shift_Ins	INS	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.L797fs	ENST00000286398.7	37	c.2385_2386	CCDS35086.1	9																																																																																			SMC2	-	superfamily_P-loop_NTPase	ENSG00000136824		0.327	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1		0	56	0	-			106887321	1	tier1		no_errors	ENST00000286398	ensembl	human	known	74_37	frame_shift_ins	23.40	36	11	INS	1.000:1.000	A	A	106887321	-	A	106887320	7	5	129	1	0	1	1	0	0	0	0	0	14828	933	33	0	2451	0	SMC2	9	106887320	Frame_Shift_Ins	INS	-	TCGA-LN-A8HZ-01A-11D-A36J-09	7590905	106887320	34326111	105	33160											
ZNF462	58499	genome.wustl.edu	37	chr9	109691399	109691399	+	Missense_Mutation	SNP	A	A	T	1	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	gcttggcagcctccaggaccAtcagcgacaagcccaacaaa	13	4	9	15	1	1	0	1	0	0	0	2	2	2	1	4	2	4	2	4	2	3	1	rs192125496	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:109691399A>T	ENST00000277225.5	+	3	5495	c.5206A>T	c.(5206-5208)Atc>Ttc	p.I1736F	ZNF462_ENST00000441147.2_Missense_Mutation_p.I581F|ZNF462_ENST00000457913.1_Missense_Mutation_p.I1736F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1736					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						CTCCAGGACCATCAGCGACAA	0.582																																																	0													111	89	96					9																	109691399		2203	4300	6503	SO:0001583	missense	0			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.5206A>T	9.37:g.109691399A>T	ENSP00000277225:p.Ile1736Phe		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I1736F	ENST00000277225.5	37	c.5206	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	A	12.03	1.815268	0.32053	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.07327	3.2;3.66;3.8;3.78	6.17	5.05	0.67936	.	0.230578	0.47093	D	0.000254	T	0.02888	0.0086	N	0.08118	0	0.80722	D	1	P;B	0.39717	0.684;0.201	B;B	0.34652	0.187;0.063	T	0.49283	-0.8956	10	0.10111	T	0.7	.	3.5321	0.07781	0.7038:0.0:0.2962:0.0	.	1736;1736	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	F	1736;1736;619;581	ENSP00000277225:I1736F;ENSP00000414570:I1736F;ENSP00000363818:I619F;ENSP00000397306:I581F	ENSP00000277225:I1736F	I	+	1	0	ZNF462	108731220	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.167000	0.50793	2.371000	0.80710	0.533000	0.62120	ATC	ZNF462	-	NULL	ENSG00000148143		0.582	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	-	0	58	0	A	NM_021224		109691399	1	tier1	-	no_errors	ENST00000457913	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	109691399	A	T	109691399	3	4	129	1	0	0	0	0	1	0	0	0	17974	217	8	5	5212	5	ZNF462	9	109691399	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	2804079	109691399	31522032	106	33161											
HDHD3	81932	genome.wustl.edu	37	chr9	116136524	116136524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgagggctccacctccagCccatgggcccgggccttggt	4	7	14	16	1	0	1	0	1	0	0	2	1	2	1	6	4	1	2	6	4	0	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:116136524C>T	ENST00000238379.5	-	2	1008	c.111G>A	c.(109-111)ggG>ggA	p.G37G	HDHD3_ENST00000374180.3_Silent_p.G37G|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	37						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						CCACCTCCAGCCCATGGGCCC	0.647																																																	0													34	29	31					9																	116136524		2203	4299	6502	SO:0001819	synonymous_variant	0			AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 158"	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.111G>A	9.37:g.116136524C>T			B2RD47	Silent	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_hydro_IA_REG-2-like,tigrfam_HAD-SF_hydro_IA	p.G37	ENST00000238379.5	37	c.111	CCDS6793.1	9																																																																																			HDHD3	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_REG-2-like	ENSG00000119431		0.647	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD3	HGNC	protein_coding	OTTHUMT00000053731.1	-	0	74	0	C	NM_031219		116136524	-1	tier1	-	no_errors	ENST00000238379	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.944	T	T	116136524	C	T	116136524	2	4	129	1	0	0	0	0	0	0	0	1	7051	726	26	3		3	HDHD3	9	116136524	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	6445125	116136524	25076907	107	33162											
COL27A1	85301	genome.wustl.edu	37	chr9	116931688	116931688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccacctggcaggatctaCgcctttccctctgctgatgg	5	12	9	15	1	2	1	0	1	2	0	4	2	4	2	4	3	2	2	4	3	1	3	rs141872540		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:116931688C>T	ENST00000356083.3	+	3	2244	c.1853C>T	c.(1852-1854)aCg>aTg	p.T618M		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	618	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						GCAGGATCTACGCCTTTCCCT	0.647																																																	0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	58	63	61		1853	5	1	9	dbSNP_134	61	0,8600		0,0,4300	yes	missense	COL27A1	NM_032888.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	618/1861	116931688	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1853C>T	9.37:g.116931688C>T	ENSP00000348385:p.Thr618Met		Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.T618M	ENST00000356083.3	37	c.1853	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948924	0.34377	2.27E-4	0.0	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.94376	-3.41;-3.41	5.01	5.01	0.66863	.	.	.	.	.	D	0.93776	0.8010	L	0.36672	1.1	0.42764	D	0.993816	D;D	0.89917	0.996;1.0	P;P	0.60541	0.737;0.876	D	0.93750	0.7058	9	0.48119	T	0.1	.	15.8632	0.79040	0.0:1.0:0.0:0.0	.	618;565	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	M	618;618;565;565	ENSP00000348385:T618M;ENSP00000391328:T565M	ENSP00000348385:T618M	T	+	2	0	COL27A1	115971509	0.999000	0.42202	0.957000	0.39632	0.803000	0.45373	4.582000	0.60957	2.606000	0.88127	0.655000	0.94253	ACG	COL27A1	-	NULL	ENSG00000196739		0.647	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	-	0	80	0	C	NM_032888		116931688	1	tier1	rs141872540	no_errors	ENST00000356083	ensembl	human	known	74_37	missense	21.62	29	8	SNP	0.991	T	T	116931688	C	T	116931688	3	4	129	1	0	0	0	0	1	0	0	0	3692	536	19	1	1863	1	COL27A1	9	116931688	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	795164	116931688	24281743	108	33163											
GTF3C5	9328	genome.wustl.edu	37	chr9	135917627	135917627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggggtgctgggcactgagGcccactccgaggtcacattt	8	8	14	11	1	1	1	1	1	0	0	2	2	2	1	2	5	1	2	2	5	1	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:135917627G>A	ENST00000372097.5	+	2	630	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	GTF3C5_ENST00000372099.6_Missense_Mutation_p.A94T|GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372108.5_Missense_Mutation_p.A103T|GTF3C5_ENST00000342018.8_Missense_Mutation_p.A103T	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	103					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)	p.A103T(1)		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)		GGGCACTGAGGCCCACTCCGA	0.532																																																	1	Substitution - Missense(1)	lung(1)											87	87	87					9																	135917627		2203	4300	6503	SO:0001583	missense	0			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.307G>A	9.37:g.135917627G>A	ENSP00000361169:p.Ala103Thr		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	pfam_TF_IIIC_su-5	p.A103T	ENST00000372097.5	37	c.307	CCDS6958.1	9	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812714	0.32053	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372108;ENST00000342018	T;T;T;T	0.49139	0.79;0.85;0.8;0.82	5.34	0.571	0.17352	.	0.541334	0.17463	N	0.173365	T	0.21881	0.0527	N	0.20401	0.57	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.09357	-1.0678	10	0.14252	T	0.57	-39.7735	0.2589	0.00216	0.3407:0.1979:0.2621:0.1993	.	103;103	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	T	103;56;94;103;103	ENSP00000361169:A103T;ENSP00000361171:A94T;ENSP00000361180:A103T;ENSP00000339530:A103T	ENSP00000339530:A103T	A	+	1	0	GTF3C5	134907448	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.250000	0.08830	0.181000	0.19994	0.655000	0.94253	GCC	GTF3C5	-	pfam_TF_IIIC_su-5	ENSG00000148308		0.532	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1		0	49	0	G	NM_001122823		135917627	1			no_errors	ENST00000372108	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.002	A	A	135917627	G	A	135917627	3	1	129	1	0	0	0	0	1	0	0	0	6903	1203	42	3	313	3	GTF3C5	9	135917627	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	18985939	135917627	5295804	109	33164											
FBXW5	54461	genome.wustl.edu	37	chr9	139835770	139835770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgttgggcgtgtaggcgcGgtgcgcacgcagagcccgcc	4	6	18	13	7	0	1	0	0	0	1	1	1	0	1	2	3	2	4	2	3	1	2	rs371147879		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:139835770G>A	ENST00000325285.3	-	8	1469	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	464					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GTGTAGGCGCGGTGCGCACGC	0.672													G|||	1	0.000199681	0	0	5008	,	,		15416	0.001		0	False		,,,				2504	0																0													44	37	39					9																	139835770		2202	4298	6500	SO:0001583	missense	0			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1390C>T	9.37:g.139835770G>A	ENSP00000313034:p.Arg464Cys		B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R464C	ENST00000325285.3	37	c.1390	CCDS7014.1	9	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027891	0.93518	.	.	ENSG00000159069	ENST00000325285	T	0.66638	-0.22	4.24	4.24	0.50183	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.56612	0.745;0.802	T	0.80049	-0.1545	10	0.72032	D	0.01	-24.776	16.8298	0.85941	0.0:0.0:1.0:0.0	.	329;464	Q59ET5;Q969U6	.;FBXW5_HUMAN	C	464	ENSP00000313034:R464C	ENSP00000313034:R464C	R	-	1	0	FBXW5	138955591	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.696000	0.61774	2.204000	0.70986	0.561000	0.74099	CGC	FBXW5	-	superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat	ENSG00000159069		0.672	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	HGNC	protein_coding	OTTHUMT00000055227.1	-	0	82	0	G	NM_018998		139835770	-1	tier1	-	no_errors	ENST00000325285	ensembl	human	known	74_37	missense	42.86	20	15	SNP	1.000	A	A	139835770	G	A	139835770	3	1	129	1	0	0	0	0	1	0	0	0	5790	1116	39	1	318	1	FBXW5	9	139835770	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	3918143	139835770	1377661	110	33165											
THNSL1	79896	genome.wustl.edu	37	chr10	25313365	25313365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaggatagctgtggttGcattttttcctgagaatgga	11	13	12	5	0	0	1	0	1	0	1	1	4	1	3	1	3	3	4	1	3	3	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:25313365G>T	ENST00000524413.1	+	3	1560	c.1213G>T	c.(1213-1215)Gca>Tca	p.A405S	THNSL1_ENST00000376356.4_Missense_Mutation_p.A405S			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	405						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A405T(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AGCTGTGGTTGCATTTTTTCC	0.378																																																	1	Substitution - Missense(1)	endometrium(1)											124	122	123					10																	25313365		2203	4300	6503	SO:0001583	missense	0			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1213G>T	10.37:g.25313365G>T	ENSP00000434887:p.Ala405Ser		B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	pfam_Shikimate_kinase/TSH1,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_P-loop_NTPase,prints_Shikimate_kinase/TSH1,tigrfam_Thr_synthase_like	p.A405S	ENST00000524413.1	37	c.1213	CCDS7147.1	10	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342777	0.24339	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	D;D	0.96885	-4.16;-4.16	5.61	4.48	0.54585	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.477387	0.22663	N	0.057169	D	0.88775	0.6528	N	0.04959	-0.14	0.19775	N	0.999959	B	0.02656	0.0	B	0.04013	0.001	T	0.80144	-0.1505	10	0.49607	T	0.09	-28.934	6.6837	0.23134	0.7923:0.0:0.0721:0.1355	.	405	Q8IYQ7	THNS1_HUMAN	S	405	ENSP00000434887:A405S;ENSP00000365534:A405S	ENSP00000365534:A405S	A	+	1	0	THNSL1	25353371	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.875000	0.56108	0.968000	0.38212	-0.247000	0.11927	GCA	THNSL1	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	ENSG00000185875		0.378	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	THNSL1	HGNC	protein_coding	OTTHUMT00000394913.1		0	81	0	G	NM_024838		25313365	1			no_errors	ENST00000376356	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	25313365	G	T	25313365	3	4	129	1	0	0	0	0	1	0	0	0	15909	1319	46	3	1215	3	THNSL1	10	25313365	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09		25313365	110221382	111	33166											
ZEB1	6935	genome.wustl.edu	37	chr10	31810432	31810432	+	Silent	SNP	T	T	C	0	1	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	cagggttacttgtacacagcTgagggtgcacaagaagagcc	12	7	13	9	0	0	3	0	1	0	2	0	3	0	3	1	2	5	4	1	2	4	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:31810432T>C	ENST00000320985.10	+	7	2279	c.2169T>C	c.(2167-2169)gcT>gcC	p.A723A	ZEB1_ENST00000560721.2_Silent_p.A703A|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Silent_p.A707A|ZEB1_ENST00000361642.5_Silent_p.A724A|ZEB1_ENST00000542815.3_Silent_p.A656A			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	723					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGTACACAGCTGAGGGTGCAC	0.443																																					Ovarian(40;423 959 14296 36701 49589)												0													89	82	84					10																	31810432		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2169T>C	10.37:g.31810432T>C			B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.A724	ENST00000320985.10	37	c.2172	CCDS7169.1	10																																																																																			ZEB1	-	NULL	ENSG00000148516		0.443	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	-	0	88	0	T	NM_030751		31810432	1	tier1	-	no_errors	ENST00000361642	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.155	C	C	31810432	T	C	31810432	2	2	129	1	0	0	0	0	0	0	0	1	17671	1567	55	4		4	ZEB1	10	31810432	Silent	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	6497067	31810432	103724315	112	33167											
ERCC6	2074	genome.wustl.edu	37	chr10	50678883	50678883	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtctgctccaaaggctggTtgaatccttctttttagatg	7	16	10	8	0	2	2	0	1	2	1	4	2	4	2	2	3	1	3	2	3	3	5	rs563142074		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:50678883T>C	ENST00000355832.5	-	18	3201	c.3123A>G	c.(3121-3123)caA>caG	p.Q1041Q	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Silent_p.Q411Q	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1041					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						CAAAGGCTGGTTGAATCCTTC	0.403								Direct reversal of damage;Nucleotide excision repair (NER)					T|||	1	0.000199681	8e-04	0	5008	,	,		20544	0		0	False		,,,				2504	0																0													133	133	133					10																	50678883		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3123A>G	10.37:g.50678883T>C			D3DX94|Q5W0L9	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1041	ENST00000355832.5	37	c.3123	CCDS7229.1	10																																																																																			ERCC6	-	NULL	ENSG00000225830		0.403	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	-	0	105	0	T	NM_000124		50678883	-1	tier1	-	no_errors	ENST00000355832	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.000	C	C	50678883	T	C	50678883	2	2	129	1	0	0	0	0	0	0	0	1	5233	1722	60	4		4	ERCC6	10	50678883	Silent	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	18868451	50678883	84855864	113	33168											
DKK1	22943	genome.wustl.edu	37	chr10	54074703	54074703	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ccgtacccgtgcgcagaggaCgaggagtgcggcactgatga	9	5	16	11	5	0	3	0	2	0	1	0	6	0	5	2	3	3	3	2	3	1	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:54074703C>T	ENST00000373970.3	+	2	403	c.264C>T	c.(262-264)gaC>gaT	p.D88D	PRKG1-AS1_ENST00000420193.1_RNA|DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	88	DKK-type Cys-1.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GCGCAGAGGACGAGGAGTGCG	0.662											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													33	28	30					10																	54074703		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"dickkopf (Xenopus laevis) homolog 1", "dickkopf 1 homolog (Xenopus laevis)"				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.264C>T	10.37:g.54074703C>T		997	B2RC19	Silent	SNP	pfam_Dickkopf_N	p.D88	ENST00000373970.3	37	c.264	CCDS7246.1	10																																																																																			DKK1	-	pfam_Dickkopf_N	ENSG00000107984		0.662	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK1	HGNC	protein_coding	OTTHUMT00000048100.1	-	0	110	0	C			54074703	1	tier1	-	no_errors	ENST00000373970	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.966	T	T	54074703	C	T	54074703	2	4	129	1	0	0	0	0	0	0	0	1	4558	535	19	1		1	DKK1	10	54074703	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	3395820	54074703	81460044	114	33169											
STOX1	219736	genome.wustl.edu	37	chr10	70644114	70644114	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaggatacttcatagttActcctcagacttacttcatt	12	14	6	9	0	3	2	3	0	0	2	4	4	4	3	1	1	3	1	1	1	5	7			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:70644114A>G	ENST00000298596.6	+	3	645	c.562A>G	c.(562-564)Act>Gct	p.T188A	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.T78A|STOX1_ENST00000399169.4_Missense_Mutation_p.T188A|STOX1_ENST00000399165.4_Missense_Mutation_p.T188A	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	188						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						CTTCATAGTTACTCCTCAGAC	0.403																																																	0													99	94	95					10																	70644114		1885	4119	6004	SO:0001583	missense	0			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.562A>G	10.37:g.70644114A>G	ENSP00000298596:p.Thr188Ala		A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.T188A	ENST00000298596.6	37	c.562	CCDS41535.1	10	.	.	.	.	.	.	.	.	.	.	A	22.3	4.278006	0.80692	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000421961	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.58	5.58	0.84498	Storkhead-box protein, winged-helix domain (1);	0.000000	0.85682	U	0.000000	D	0.90188	0.6933	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.97110	1.0;0.894	D	0.91257	0.5034	10	0.59425	D	0.04	.	15.7497	0.77972	1.0:0.0:0.0:0.0	.	188;188	Q6ZVD7;Q6ZVD7-2	STOX1_HUMAN;.	A	188;188;188;78	ENSP00000382121:T188A;ENSP00000298596:T188A;ENSP00000382118:T188A;ENSP00000394509:T78A	ENSP00000298596:T188A	T	+	1	0	STOX1	70314120	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.268000	0.78473	2.118000	0.64928	0.402000	0.26972	ACT	STOX1	-	pfam_Storkhead-box_winged-helix	ENSG00000165730		0.403	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX1	HGNC	protein_coding	OTTHUMT00000276849.3		0	70	0	A	NM_152709		70644114	1			no_errors	ENST00000298596	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	G	G	70644114	A	G	70644114	3	3	129	1	0	0	0	0	1	0	0	0	15366	391	14	4	572	4	STOX1	10	70644114	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	16569411	70644114	64890633	115	33170											
ZCCHC24	219654	genome.wustl.edu	37	chr10	81154164	81154164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcagcgctttttgccctgGtatggagtcaggccctcgcc	6	10	12	13	2	1	0	1	0	0	0	2	1	1	1	3	3	3	3	3	3	2	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:81154164G>A	ENST00000372336.3	-	3	666	c.480C>T	c.(478-480)taC>taT	p.Y160Y	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.P101S|RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	160							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TTTTGCCCTGGTATGGAGTCA	0.582																																																	0													122	101	108					10																	81154164		2203	4300	6503	SO:0001819	synonymous_variant	0			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.480C>T	10.37:g.81154164G>A			Q5U5T9|Q8TAG0	Missense_Mutation	SNP	NULL	p.P101S	ENST00000372336.3	37	c.301	CCDS7359.1	10	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143968	0.57044	.	.	ENSG00000165424	ENST00000372333	.	.	.	5.31	4.4	0.53042	.	.	.	.	.	T	0.62405	0.2425	.	.	.	0.28789	N	0.899406	D	0.56521	0.976	P	0.56398	0.797	T	0.62034	-0.6939	7	0.87932	D	0	.	15.3288	0.74190	0.0:0.0:0.8589:0.1411	.	101	Q5W133	.	S	101	.	ENSP00000361408:P101S	P	-	1	0	ZCCHC24	80824170	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.466000	0.45084	1.220000	0.43490	0.514000	0.50259	CCA	ZCCHC24	-	NULL	ENSG00000165424		0.582	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC24	HGNC	protein_coding	OTTHUMT00000048947.1	-	0	59	0	G	NM_153367		81154164	-1	tier1	-	no_errors	ENST00000372333	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	81154164	G	A	81154164	2	1	129	1	0	0	0	0	0	0	0	1	17636	1256	44	3		3	ZCCHC24	10	81154164	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	10510050	81154164	54380583	116	33171											
LDB3	11155	genome.wustl.edu	37	chr10	88469744	88469744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacagtgagggccccgccGcccctgcacccaagccccgg	6	3	12	20	3	0	1	0	1	0	0	0	1	0	1	8	2	3	2	8	2	2	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:88469744G>A	ENST00000361373.4	+	8	1189	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	LDB3_ENST00000429277.2_Missense_Mutation_p.A395T|LDB3_ENST00000352360.5_Missense_Mutation_p.A133T|LDB3_ENST00000263066.6_Missense_Mutation_p.A280T|LDB3_ENST00000458213.2_Missense_Mutation_p.A280T	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						GGGCCCCGCCGCCCCTGCACC	0.677																																																	0													21	24	23					10																	88469744		2201	4294	6495	SO:0001583	missense	0			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.1168G>A	10.37:g.88469744G>A	ENSP00000355296:p.Ala390Thr			Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.A395T	ENST00000361373.4	37	c.1183	CCDS7377.1	10	.	.	.	.	.	.	.	.	.	.	G	6.058	0.378980	0.11466	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.52	4.61	0.57282	.	0.261694	0.20350	N	0.094067	T	0.73009	0.3532	L	0.31664	0.95	0.43896	D	0.996524	B;B;B;B;B	0.16396	0.004;0.017;0.003;0.004;0.001	B;B;B;B;B	0.12156	0.001;0.007;0.002;0.002;0.001	T	0.63453	-0.6634	10	0.17832	T	0.49	.	5.8963	0.18941	0.0754:0.1344:0.6514:0.1387	.	395;327;133;390;280	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	T	327;395;280;133;280;390	ENSP00000401437:A395T;ENSP00000409148:A280T;ENSP00000263067:A133T;ENSP00000263066:A280T;ENSP00000355296:A390T	ENSP00000263066:A280T	A	+	1	0	LDB3	88459724	0.318000	0.24598	0.446000	0.26920	0.524000	0.34500	0.439000	0.21575	1.337000	0.45525	0.561000	0.74099	GCC	LDB3	-	NULL	ENSG00000122367		0.677	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	-	0	104	0	G			88469744	1	tier1	-	no_errors	ENST00000429277	ensembl	human	known	74_37	missense	46.15	27	24	SNP	0.668	A	A	88469744	G	A	88469744	3	1	129	1	0	0	0	0	1	0	0	0	8725	1087	38	1	1534	1	LDB3	10	88469744	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	7315580	88469744	47065003	117	33172											
CHUK	1147	genome.wustl.edu	37	chr10	101953779	101953779	+	Frame_Shift_Del	DEL	T	T	-																															atgccatatttctttctgccTttttccctgcatgaacatga																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:101953779delT	ENST00000370397.7	-	18	2022	c.1936delA	c.(1936-1938)aggfs	p.R646fs	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	646					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)	TCTTTCTGCCTTTTTCCCTGC	0.373																																					Ovarian(159;52 1904 10536 35305 37148)												0													112	105	107					10																	101953779		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1936delA	10.37:g.101953779delT	ENSP00000359424:p.Arg646fs		O14666|Q13132|Q5W0I4|Q92467	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R646fs	ENST00000370397.7	37	c.1936	CCDS7488.1	10																																																																																			CHUK	-	NULL	ENSG00000213341		0.373	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1		0	109	0	T	NM_001278		101953779	-1			no_errors	ENST00000370397	ensembl	human	known	74_37	frame_shift_del	9.46	67	7	DEL	1.000	0	-	101953779	T	-	101953779	7	5	129	1	0	1	0	1	0	0	0	0	3423	1608	56	0	317	0	CHUK	10	101953779	Frame_Shift_Del	DEL	T	TCGA-LN-A8HZ-01A-11D-A36J-09	13484035	101953779	33580968	118	33173											
SLK	9748	genome.wustl.edu	37	chr10	105762241	105762241	+	Silent	SNP	C	C	T	0	0	0	1	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	aagcttgaaaatctgcctgaCacagaagaccaagaaactgt	17	7	8	9	0	1	5	0	2	1	3	1	5	1	5	2	0	3	1	2	0	6	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:105762241C>T	ENST00000369755.3	+	9	1850	c.1305C>T	c.(1303-1305)gaC>gaT	p.D435D	SLK_ENST00000335753.4_Silent_p.D435D	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	435	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)		ATCTGCCTGACACAGAAGACC	0.368																																					NSCLC(111;540 1651 1927 4474 17706)												0													106	116	112					10																	105762241		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1305C>T	10.37:g.105762241C>T			D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Silent	SNP	pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_dom	p.D435	ENST00000369755.3	37	c.1305	CCDS7553.1	10																																																																																			SLK	-	superfamily_Kinase-like_dom	ENSG00000065613		0.368	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	-	0	66	0	C	NM_014720		105762241	1	tier1	-	no_errors	ENST00000369755	ensembl	human	known	74_37	silent	36.59	26	15	SNP	0.002	T	T	105762241	C	T	105762241	2	4	129	1	0	0	0	0	0	0	0	1	14793	477	17	3		3	SLK	10	105762241	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	3808462	105762241	29772506	119	33174											
HABP2	3026	genome.wustl.edu	37	chr10	115334094	115334094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctacgaggattataatcaGgaagagaacaccagtagcac	17	6	10	8	1	1	1	1	0	0	1	1	5	1	3	1	2	4	3	1	2	6	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:115334094G>T	ENST00000351270.3	+	3	249	c.153G>T	c.(151-153)caG>caT	p.Q51H	HABP2_ENST00000542051.1_Missense_Mutation_p.Q25H|HABP2_ENST00000541666.1_Missense_Mutation_p.Q51H|HABP2_ENST00000537906.1_Missense_Mutation_p.R40M	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	51					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)	ATTATAATCAGGAAGAGAACA	0.468																																																	0													152	129	137					10																	115334094		2203	4300	6503	SO:0001583	missense	0				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.153G>T	10.37:g.115334094G>T	ENSP00000277903:p.Gln51His		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q51H	ENST00000351270.3	37	c.153	CCDS7577.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.563|5.563	0.288806|0.288806	0.10513|0.10513	.|.	.|.	ENSG00000148702|ENSG00000148702	ENST00000542051;ENST00000351270;ENST00000541666|ENST00000537906	D;D;D|.	0.87966|.	-2.32;-2.31;-2.03|.	4.31|4.31	0.189|0.189	0.15119|0.15119	.|.	1.402260|.	0.04047|.	N|.	0.304088|.	T|T	0.24431|0.24431	0.0592|0.0592	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|P	0.06786|0.41784	0.001|0.762	B|B	0.04013|0.44278	0.001|0.445	T|T	0.14980|0.14980	-1.0453|-1.0453	10|8	0.35671|0.87932	T|D	0.21|0	.|.	3.9597|3.9597	0.09405|0.09405	0.1887:0.0:0.4835:0.3277|0.1887:0.0:0.4835:0.3277	.|.	51|40	Q14520|F5H475	HABP2_HUMAN|.	H|M	25;51;51|40	ENSP00000443283:Q25H;ENSP00000277903:Q51H;ENSP00000438373:Q51H|.	ENSP00000277903:Q51H|ENSP00000446135:R40M	Q|R	+|+	3|2	2|0	HABP2|HABP2	115324084|115324084	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	0.233000|0.233000	0.17911|0.17911	0.039000|0.039000	0.15632|0.15632	0.563000|0.563000	0.77884|0.77884	CAG|AGG	HABP2	-	NULL	ENSG00000148702		0.468	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP2	HGNC	protein_coding	OTTHUMT00000050428.1	-	0	121	0	G	NM_004132		115334094	1	tier1	-	no_errors	ENST00000351270	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.001	T	T	115334094	G	T	115334094	3	4	129	1	0	0	0	0	1	0	0	0	6965	991	35	3	163	3	HABP2	10	115334094	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	9571853	115334094	20200653	120	33175											
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118220679	118220679	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtttttatttatttcaGgtgttggaaccattgatgct	7	19	8	7	0	1	1	1	1	0	0	1	2	1	2	2	2	2	3	2	2	3	8			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:118220679G>T	ENST00000369230.3	+	7	831		c.e7-1			NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ATTTATTTCAGGTGTTGGAAC	0.378																																																	0													180	173	176					10																	118220679		2203	4300	6503	SO:0001630	splice_region_variant	0			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.686-1G>T	10.37:g.118220679G>T				Splice_Site	SNP	-	e7-1	ENST00000369230.3	37	c.686-1	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846133	0.51164	.	.	ENSG00000203837	ENST00000369230	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.318	0.90227	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLIPRP3	118210669	1.000000	0.71417	0.992000	0.48379	0.323000	0.28346	4.725000	0.61979	2.561000	0.86390	0.591000	0.81541	.	PNLIPRP3	-	-	ENSG00000203837		0.378	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	-	0	141	0	G	XM_058404	Intron	118220679	1	tier1	-	no_errors	ENST00000369230	ensembl	human	known	74_37	splice_site	5.21	91	5	SNP	1.000	T	T	118220679	G	T	118220679	5	4	129	1	0	0	0	0	0	0	1	0	12191	1014	35	3	711	3	PNLIPRP3	10	118220679	Splice_Site	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	2886585	118220679	17314068	121	33176											
KIAA1598	57698	genome.wustl.edu	37	chr10	118708448	118708448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tctattgcatttttctaagaCttttctctgttcaagaactt	9	20	4	8	0	4	2	1	0	3	2	5	2	4	2	0	0	2	2	0	0	4	9			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:118708448C>T	ENST00000355371.4	-	7	1092	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	KIAA1598_ENST00000392903.2_Missense_Mutation_p.V199I|KIAA1598_ENST00000260777.10_Missense_Mutation_p.V199I|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.V139I	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	199					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTTTCTAAGACTTTTCTCTGT	0.313																																																	0													88	91	90					10																	118708448		2195	4298	6493	SO:0001583	missense	0			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.595G>A	10.37:g.118708448C>T	ENSP00000347532:p.Val199Ile		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	superfamily_Adenylate_cyclase-assoc_CAP_N	p.V199I	ENST00000355371.4	37	c.595	CCDS44482.1	10	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285097	0.40394	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	T;T;T;T	0.21734	3.12;2.82;3.12;1.99	5.75	4.82	0.62117	.	0.203897	0.41605	D	0.000845	T	0.21145	0.0509	L	0.50333	1.59	0.30294	N	0.790122	B;B;B	0.22683	0.044;0.03;0.073	B;B;B	0.26094	0.066;0.014;0.053	T	0.10109	-1.0644	10	0.38643	T	0.18	-3.7309	10.8558	0.46798	0.1403:0.6277:0.232:0.0	.	199;199;169	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	I	199;199;199;139	ENSP00000376636:V199I;ENSP00000260777:V199I;ENSP00000347532:V199I;ENSP00000376635:V139I	ENSP00000260777:V199I	V	-	1	0	KIAA1598	118698438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.647000	0.24812	1.343000	0.45638	0.655000	0.94253	GTC	KIAA1598	-	NULL	ENSG00000187164		0.313	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	HGNC	protein_coding		-	0	87	0	C	NM_018330		118708448	-1	tier1	-	no_errors	ENST00000392903	ensembl	human	known	74_37	missense	11.11	48	6	SNP	1.000	T	T	118708448	C	T	118708448	3	4	129	1	0	0	0	0	1	0	0	0	8273	565	20	3	1344	3	KIAA1598	10	118708448	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	487769	118708448	16826299	122	33177											
SLC18A2	6571	genome.wustl.edu	37	chr10	119013563	119013563	+	Silent	SNP	T	T	C	0	1	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	ccccctctctcggcagtgttTgccttctccagcagctatgc	4	12	8	17	1	2	0	0	0	2	0	5	0	2	0	4	1	4	4	4	1	1	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:119013563T>C	ENST00000298472.5	+	5	671	c.528T>C	c.(526-528)ttT>ttC	p.F176F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	176					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CGGCAGTGTTTGCCTTCTCCA	0.592																																																	0													150	133	138					10																	119013563		2203	4300	6503	SO:0001819	synonymous_variant	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.528T>C	10.37:g.119013563T>C			B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F176	ENST00000298472.5	37	c.528	CCDS7599.1	10																																																																																			SLC18A2	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165646		0.592	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1		0	56	0	T	NM_003054		119013563	1			no_errors	ENST00000298472	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.988	C	C	119013563	T	C	119013563	2	2	129	1	0	0	0	0	0	0	0	1	14471	1809	63	4		4	SLC18A2	10	119013563	Silent	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	305115	119013563	16521184	123	33178											
FGFR2	2263	genome.wustl.edu	37	chr10	123245035	123245035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agatctcccacattaacaccCcgaaggaccagctgcaacaa	15	5	6	15	1	1	1	0	0	1	1	2	3	1	2	4	1	4	2	4	1	4	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:123245035C>T	ENST00000358487.5	-	16	2341	c.2069G>A	c.(2068-2070)gGg>gAg	p.G690E	FGFR2_ENST00000346997.2_Missense_Mutation_p.G688E|FGFR2_ENST00000369056.1_Missense_Mutation_p.G691E|FGFR2_ENST00000369061.4_Missense_Mutation_p.G578E|FGFR2_ENST00000356226.4_Missense_Mutation_p.G573E|FGFR2_ENST00000457416.2_Missense_Mutation_p.G691E|FGFR2_ENST00000357555.5_Missense_Mutation_p.G601E|FGFR2_ENST00000369059.1_Missense_Mutation_p.G576E|FGFR2_ENST00000478859.1_Missense_Mutation_p.G462E|FGFR2_ENST00000360144.3_Missense_Mutation_p.G602E|FGFR2_ENST00000369060.4_Missense_Mutation_p.G574E|FGFR2_ENST00000351936.6_Missense_Mutation_p.G688E	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	690	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CATTAACACCCCGAAGGACCA	0.507		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0													91	83	86					10																	123245035		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2069G>A	10.37:g.123245035C>T	ENSP00000351276:p.Gly690Glu		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G691E	ENST00000358487.5	37	c.2072	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018629	0.93404	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99282	-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68	5.17	5.17	0.71159	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	0.99743	0.9898	H	0.99156	4.45	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.987;0.998;0.987;0.999;0.978;1.0	D	0.96945	0.9690	10	0.72032	D	0.01	.	19.0288	0.92946	0.0:1.0:0.0:0.0	.	707;689;601;573;690;602;691;593	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	E	601;691;578;690;573;574;576;282;688;691;688;602;691;691;599	ENSP00000350166:G601E;ENSP00000358057:G578E;ENSP00000351276:G690E;ENSP00000348559:G573E;ENSP00000358056:G574E;ENSP00000358055:G576E;ENSP00000404219:G282E;ENSP00000263451:G688E;ENSP00000410294:G691E;ENSP00000309878:G688E;ENSP00000353262:G602E;ENSP00000358052:G691E;ENSP00000358054:G691E;ENSP00000337665:G599E	ENSP00000337665:G599E	G	-	2	0	FGFR2	123235025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.690000	0.84178	2.544000	0.85801	0.655000	0.94253	GGG	FGFR2	-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000066468		0.507	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1		0	94	0	C	NM_022976, NM_000141		123245035	-1			no_errors	ENST00000457416	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	123245035	C	T	123245035	3	4	129	1	0	0	0	0	1	0	0	0	5888	623	22	3	512	3	FGFR2	10	123245035	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	4231472	123245035	12289712	124	33179											
HTRA1	5654	genome.wustl.edu	37	chr10	124249128	124249128	+	Missense_Mutation	SNP	A	A	G	1	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	aagcagacatcgcactcatcAaaattgaccaccaggtaagg	16	6	8	11	1	2	2	2	1	0	1	3	2	2	2	2	2	1	3	2	2	4	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:124249128A>G	ENST00000368984.3	+	3	891	c.763A>G	c.(763-765)Aaa>Gaa	p.K255E		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	255	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CGCACTCATCAAAATTGACCA	0.522																																																	0													95	73	81					10																	124249128		2203	4300	6503	SO:0001583	missense	0			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"Serine peptidases / Serine peptidases"	9476	protein-coding gene	gene with protein product		602194	"protease, serine, 11 (IGF binding)"	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.763A>G	10.37:g.124249128A>G	ENSP00000357980:p.Lys255Glu		D3DRE4|Q9UNS5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.K255E	ENST00000368984.3	37	c.763	CCDS7630.1	10	.	.	.	.	.	.	.	.	.	.	A	15.88	2.963530	0.53507	.	.	ENSG00000166033	ENST00000368984;ENST00000435263	D	0.88277	-2.36	5.13	5.13	0.70059	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.049016	0.85682	D	0.000000	D	0.88945	0.6575	L	0.58101	1.795	0.80722	D	1	B	0.20671	0.047	B	0.33960	0.173	D	0.87364	0.2346	10	0.87932	D	0	-17.4698	14.9758	0.71269	1.0:0.0:0.0:0.0	.	255	Q92743	HTRA1_HUMAN	E	255;222	ENSP00000357980:K255E	ENSP00000357980:K255E	K	+	1	0	HTRA1	124239118	1.000000	0.71417	0.994000	0.49952	0.687000	0.40016	4.878000	0.63093	1.935000	0.56089	0.528000	0.53228	AAA	HTRA1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	ENSG00000166033		0.522	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA1	HGNC	protein_coding	OTTHUMT00000128327.1	-	0	97	0	A	NM_002775		124249128	1	tier1	-	no_errors	ENST00000368984	ensembl	human	known	74_37	missense	37.21	27	16	SNP	1.000	G	G	124249128	A	G	124249128	3	3	129	1	0	0	0	0	1	0	0	0	7480	131	5	4	773	4	HTRA1	10	124249128	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	1004093	124249128	11285619	125	33180											
TRIM34	53840	genome.wustl.edu	37	chr11	5655862	5655862	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttgtccatccttgcagtAtcaggtacaaactgagagac	11	11	8	11	0	2	2	1	1	1	1	4	3	4	2	2	1	3	3	2	1	3	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:5655862A>T	ENST00000514226.1	+	4	858	c.521A>T	c.(520-522)tAt>tTt	p.Y174F	HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Splice_Site_p.Y528F|TRIM6-TRIM34_ENST00000457787.2_Splice_Site_p.Y174F|TRIM34_ENST00000429814.2_Splice_Site_p.Y174F	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	174					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)		TCCTTGCAGTATCAGGTACAA	0.388																																																	0													46	44	45					11																	5655862		2201	4297	6498	SO:0001630	splice_region_variant	0			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.520-1A>T	11.37:g.5655862A>T			D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Y528F	ENST00000514226.1	37	c.1583	CCDS31391.1	11	.	.	.	.	.	.	.	.	.	.	A	8.945	0.966876	0.18659	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	3.78	-0.17	0.13335	.	7739.210000	0.00166	N	0.000000	T	0.06554	0.0168	L	0.51422	1.61	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.001	T	0.40924	-0.9537	10	0.56958	D	0.05	.	3.6257	0.08112	0.5936:0.1941:0.2123:0.0	.	174;174;528	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	F	528;174;174;174;528	ENSP00000422947:Y174F;ENSP00000402595:Y174F;ENSP00000395982:Y174F;ENSP00000346916:Y528F	ENSP00000402595:Y174F	Y	+	2	0	TRIM34;TRIM6-TRIM34	5612438	0.000000	0.05858	0.000000	0.03702	0.785000	0.44390	-0.078000	0.11375	-0.032000	0.13758	0.533000	0.62120	TAT	TRIM6-TRIM34	-	NULL	ENSG00000258588		0.388	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	HGNC	protein_coding	OTTHUMT00000143357.2	-	0	43	0	A	NM_001003827	Missense_Mutation	5655862	1	tier1	-	no_errors	ENST00000354852	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.001	T	T	5655862	A	T	5655862	5	4	129	1	0	0	0	0	0	0	1	0	16556	463	16	5	531	5	TRIM34	11	5655862	Splice_Site	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09		5655862	129350654	126	33181											
OR52N1	79473	genome.wustl.edu	37	chr11	5809136	5809136	+	Missense_Mutation	SNP	T	T	C	0	1	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	gaaagaacctaatgacacttTctcgtacctgcctggttttc	10	13	7	11	1	1	2	0	1	1	1	3	3	1	2	3	1	3	2	3	1	4	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:5809136T>C	ENST00000317078.1	-	1	910	c.911A>G	c.(910-912)gAa>gGa	p.E304G	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	304						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)		AATGACACTTTCTCGTACCTG	0.383																																																	0													102	103	103					11																	5809136		2122	4090	6212	SO:0001583	missense	0			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.911A>G	11.37:g.5809136T>C	ENSP00000322823:p.Glu304Gly		Q6IFF6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.E304G	ENST00000317078.1	37	c.911	CCDS31398.1	11	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748904	0.30955	.	.	ENSG00000181001	ENST00000317078	T	0.37915	1.17	4.35	3.19	0.36642	.	1.019820	0.07870	N	0.967683	T	0.27454	0.0674	L	0.31157	0.91	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.27020	-1.0086	10	0.62326	D	0.03	.	5.8005	0.18412	0.0:0.0914:0.172:0.7366	.	304	Q8NH53	O52N1_HUMAN	G	304	ENSP00000322823:E304G	ENSP00000322823:E304G	E	-	2	0	OR52N1	5765712	0.004000	0.15560	0.118000	0.21660	0.043000	0.13939	1.272000	0.33109	0.778000	0.33520	0.496000	0.49642	GAA	OR52N1	-	NULL	ENSG00000181001		0.383	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N1	HGNC	protein_coding	OTTHUMT00000401142.1	-	0	139	0	T	NM_001001913		5809136	-1	tier1	-	no_errors	ENST00000317078	ensembl	human	known	74_37	missense	32.48	79	38	SNP	0.228	C	C	5809136	T	C	5809136	3	2	129	1	0	0	0	0	1	0	0	0	11166	1783	62	4	54	4	OR52N1	11	5809136	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	153274	5809136	129197380	127	33182											
TSG101	7251	genome.wustl.edu	37	chr11	18502163	18502163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagctggaactgtttaCgggacagaagacgtacatgc	11	8	11	11	2	1	2	1	0	0	2	1	4	1	4	1	2	5	3	1	2	4	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:18502163C>T	ENST00000251968.3	-	10	1518	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	TSG101_ENST00000357193.3_Missense_Mutation_p.R263H|TSG101_ENST00000536719.1_Intron	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	368	SB. {ECO:0000255|PROSITE- ProRule:PRU00644}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GAACTGTTTACGGGACAGAAG	0.453																																					GBM(99;1348 1396 8611 26475 50572)												0													89	84	86					11																	18502163		2199	4293	6492	SO:0001583	missense	0			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.1103G>A	11.37:g.18502163C>T	ENSP00000251968:p.Arg368His		Q9BUM5	Missense_Mutation	SNP	pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD	p.R368H	ENST00000251968.3	37	c.1103	CCDS7842.1	11	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772090	0.90108	.	.	ENSG00000074319	ENST00000251968;ENST00000357193	T;T	0.64991	0.06;-0.13	5.78	5.78	0.91487	Steadiness box (2);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.71871	2.18	0.80722	D	1	P	0.47106	0.89	B	0.39562	0.303	T	0.70669	-0.4808	10	0.66056	D	0.02	-6.8137	18.2008	0.89838	0.0:1.0:0.0:0.0	.	368	Q99816	TS101_HUMAN	H	368;263	ENSP00000251968:R368H;ENSP00000349721:R263H	ENSP00000251968:R368H	R	-	2	0	TSG101	18458739	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.506000	0.81665	2.730000	0.93505	0.655000	0.94253	CGT	TSG101	-	pfam_Steadiness_box	ENSG00000074319		0.453	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSG101	HGNC	protein_coding	OTTHUMT00000395906.1	-	0	84	0	C	NM_006292		18502163	-1	tier1	-	no_errors	ENST00000251968	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	18502163	C	T	18502163	3	4	129	1	0	0	0	0	1	0	0	0	16664	536	19	1	73	1	TSG101	11	18502163	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	12693027	18502163	116504353	128	33183											
WT1	7490	genome.wustl.edu	37	chr11	32456397	32456397	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgccagtgaactggccGgaaaagtggacagtgaaggc	11	6	16	8	1	0	2	0	2	0	0	0	4	0	4	2	4	2	1	2	4	4	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:32456397G>T	ENST00000332351.3	-	1	779	c.495C>A	c.(493-495)tcC>tcA	p.S165S	WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1_ENST00000448076.3_Silent_p.S165S|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000494911.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	97					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGAACTGGCCGGAAAAGTGGA	0.682			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	0													17	19	18					11																	32456397		2198	4292	6490	SO:0001819	synonymous_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.495C>A	11.37:g.32456397G>T			A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour	p.S165	ENST00000332351.3	37	c.495	CCDS7878.2	11																																																																																			WT1	-	pfam_Wilms_tumour_N	ENSG00000184937		0.682	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	WT1	HGNC	protein_coding	OTTHUMT00000095436.2		0	100	0	G	NM_000378		32456397	-1			no_errors	ENST00000332351	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.128	T	T	32456397	G	T	32456397	2	4	129	1	0	0	0	0	0	0	0	1	17457	1103	39	2		2	WT1	11	32456397	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	13954234	32456397	102550119	129	33184											
PHF21A	51317	genome.wustl.edu	37	chr11	45992882	45992882	+	Missense_Mutation	SNP	T	T	C	0	1	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	tttcaagacgagaggtagtgTctttgtggtaatcatagaag	12	13	12	4	1	3	3	2	0	1	3	3	4	3	3	0	2	0	2	0	2	5	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:45992882T>C	ENST00000418153.2	-	7	596	c.397A>G	c.(397-399)Aca>Gca	p.T133A	PHF21A_ENST00000257821.4_Missense_Mutation_p.T133A|PHF21A_ENST00000323180.6_Missense_Mutation_p.T133A			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	133					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						AGAGGTAGTGTCTTTGTGGTA	0.438																																																	0													78	75	76					11																	45992882		2202	4299	6501	SO:0001583	missense	0			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.397A>G	11.37:g.45992882T>C	ENSP00000398824:p.Thr133Ala		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T133A	ENST00000418153.2	37	c.397	CCDS44578.1	11	.	.	.	.	.	.	.	.	.	.	T	28.6	4.935038	0.92458	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	D;D;D	0.96334	-3.48;-3.98;-3.49	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.97501	0.9182	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.80764	0.98;0.994	D	0.97383	0.9984	10	0.40728	T	0.16	-7.6853	16.1596	0.81693	0.0:0.0:0.0:1.0	.	133;133	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	A	133	ENSP00000257821:T133A;ENSP00000323152:T133A;ENSP00000398824:T133A	ENSP00000257821:T133A	T	-	1	0	PHF21A	45949458	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.464000	0.66719	2.216000	0.71823	0.533000	0.62120	ACA	PHF21A	-	NULL	ENSG00000135365		0.438	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	-	0	66	0	T	NM_016621		45992882	-1	tier1	-	no_errors	ENST00000257821	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	C	C	45992882	T	C	45992882	3	2	129	1	0	0	0	0	1	0	0	0	11872	1667	58	4	1723	4	PHF21A	11	45992882	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	13536485	45992882	89013634	130	33185											
MS4A10	341116	genome.wustl.edu	37	chr11	60559758	60559758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctcatttcagggatcttGgcgataacaatgaagacctt	11	14	8	8	1	3	2	2	1	2	1	4	4	3	3	1	2	1	0	1	2	3	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:60559758G>T	ENST00000308287.1	+	4	420	c.324G>T	c.(322-324)ttG>ttT	p.L108F		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	108						integral component of membrane (GO:0016021)		p.L108L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CAGGGATCTTGGCGATAACAA	0.453																																																	1	Substitution - coding silent(1)	large_intestine(1)											190	174	179					11																	60559758		2203	4300	6503	SO:0001583	missense	0			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.324G>T	11.37:g.60559758G>T	ENSP00000311862:p.Leu108Phe		B2RP45|Q96PG3	Missense_Mutation	SNP	pfam_CD20-like	p.L108F	ENST00000308287.1	37	c.324	CCDS7992.1	11	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867749	0.51588	.	.	ENSG00000172689	ENST00000308287	T	0.04317	3.65	3.15	1.21	0.21127	.	1.251970	0.06449	N	0.727314	T	0.17238	0.0414	M	0.70595	2.14	0.09310	N	1	D	0.76494	0.999	D	0.69824	0.966	T	0.12760	-1.0535	10	0.59425	D	0.04	-0.261	5.5899	0.17295	0.2598:0.0:0.7401:0.0	.	108	Q96PG2	M4A10_HUMAN	F	108	ENSP00000311862:L108F	ENSP00000311862:L108F	L	+	3	2	MS4A10	60316334	0.043000	0.20138	0.004000	0.12327	0.573000	0.36030	1.402000	0.34600	0.333000	0.23563	0.555000	0.69702	TTG	MS4A10	-	pfam_CD20-like	ENSG00000172689		0.453	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A10	HGNC	protein_coding	OTTHUMT00000395619.1		0	82	0	G	NM_206893		60559758	1			no_errors	ENST00000308287	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.004	T	T	60559758	G	T	60559758	3	4	129	1	0	0	0	0	1	0	0	0	9893	1339	47	3	334	3	MS4A10	11	60559758	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	14566876	60559758	74446758	131	33186											
KRTAP5-9	3846	genome.wustl.edu	37	chr11	71260187	71260187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagtccagatgctgtgtcCctgtgtgctaccagtgcaag	7	10	11	13	0	0	1	0	0	0	1	2	1	2	1	4	0	4	3	4	0	2	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:71260187C>G	ENST00000528743.2	+	1	722	c.484C>G	c.(484-486)Cct>Gct	p.P162A		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	162	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						ATGCTGTGTCCCTGTGTGCTA	0.567																																																	0													107	109	108					11																	71260187		2200	4293	6493	SO:0001583	missense	0			AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.484C>G	11.37:g.71260187C>G	ENSP00000431443:p.Pro162Ala		Q14564|Q3MIP8	Missense_Mutation	SNP	NULL	p.P162A	ENST00000528743.2	37	c.484	CCDS53677.1	11	.	.	.	.	.	.	.	.	.	.	N	9.727	1.161194	0.21538	.	.	ENSG00000254997	ENST00000528743	T	0.03860	3.78	1.69	1.69	0.24217	.	.	.	.	.	T	0.09774	0.0240	M	0.92268	3.29	0.09310	N	1	P	0.43701	0.815	B	0.37422	0.249	T	0.28650	-1.0037	9	0.72032	D	0.01	.	4.1276	0.10134	0.0:0.7832:0.0:0.2168	.	162	P26371	KRA59_HUMAN	A	162	ENSP00000431443:P162A	ENSP00000431443:P162A	P	+	1	0	KRTAP5-9	70937835	0.343000	0.24818	0.091000	0.20842	0.265000	0.26407	0.085000	0.14912	1.234000	0.43709	0.393000	0.25936	CCT	KRTAP5-9	-	NULL	ENSG00000254997		0.567	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-9	HGNC	protein_coding	OTTHUMT00000393901.2	-	0	144	0	C			71260187	1	tier1	-	no_errors	ENST00000528743	ensembl	human	known	74_37	missense	11.50	100	13	SNP	0.349	G	G	71260187	C	G	71260187	3	3	129	1	0	0	0	0	1	0	0	0	8596	623	22	5	486	5	KRTAP5-9	11	71260187	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	10700429	71260187	63746329	132	33187											
C11orf59	55004	genome.wustl.edu	37	chr11	71810295	71810295	+	Missense_Mutation	SNP	T	T	C	0	1	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	ccagcagcagcttccgctccTctcggtcctagaagtggtca	7	9	10	15	2	2	1	1	0	1	1	6	1	5	1	4	2	3	4	4	2	2	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:71810295T>C	ENST00000278671.5	-	2	212	c.50A>G	c.(49-51)gAg>gGg	p.E17G	LAMTOR1_ENST00000535107.1_Missense_Mutation_p.E17G|LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000539797.1_5'UTR|LAMTOR1_ENST00000545249.1_Missense_Mutation_p.E17G|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000439209.1_Intron|LAMTOR1_ENST00000538404.1_Missense_Mutation_p.E17G	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1	17					cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						CTTCCGCTCCTCTCGGTCCTA	0.597																																																	0													58	59	58					11																	71810295		2200	4293	6493	SO:0001583	missense	0			AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"p27kip1 releasing factor from RhoA", "protein associated with DRMs and endosomes"	613510	"chromosome 11 open reading frame 59"	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869	ENST00000278671.5:c.50A>G	11.37:g.71810295T>C	ENSP00000278671:p.Glu17Gly		Q8WZ09|Q9NWT0	Missense_Mutation	SNP	NULL	p.E17G	ENST00000278671.5	37	c.50	CCDS8209.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.59|14.59	2.581679|2.581679	0.46006|0.46006	.|.	.|.	ENSG00000149357|ENSG00000149357	ENST00000545249;ENST00000535107;ENST00000278671;ENST00000538404|ENST00000544594	T;T;T;T|.	0.74209|.	-0.82;-0.82;-0.82;-0.82|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.235423|.	0.42682|.	D|.	0.000672|.	T|T	0.41096|0.41096	0.1144|0.1144	N|N	0.16478|0.16478	0.41|0.41	0.51482|0.51482	D|D	0.999929|0.999929	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.33369|0.33369	-0.9871|-0.9871	10|5	0.51188|.	T|.	0.08|.	.|.	10.1653|10.1653	0.42877|0.42877	0.0:0.0749:0.0:0.9251|0.0:0.0749:0.0:0.9251	.|.	17|.	Q6IAA8|.	LTOR1_HUMAN|.	G|G	17|4	ENSP00000440738:E17G;ENSP00000445170:E17G;ENSP00000278671:E17G;ENSP00000439011:E17G|.	ENSP00000278671:E17G|.	E|R	-|-	2|1	0|2	LAMTOR1|LAMTOR1	71487943|71487943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.750000|0.750000	0.42670|0.42670	5.627000|5.627000	0.67784|0.67784	2.206000|2.206000	0.71126|0.71126	0.533000|0.533000	0.62120|0.62120	GAG|AGG	LAMTOR1	-	NULL	ENSG00000149357		0.597	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR1	HGNC	protein_coding	OTTHUMT00000396733.1	-	0	56	0	T	NM_017907		71810295	-1	tier1	-	no_errors	ENST00000278671	ensembl	human	known	74_37	missense	40.43	28	19	SNP	1.000	C	C	71810295	T	C	71810295	3	2	129	1	0	0	0	0	1	0	0	0	1657	1551	54	4	451	4	C11orf59	11	71810295	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	550108	71810295	63196221	133	33188											
SYTL2	54843	genome.wustl.edu	37	chr11	85435274	85435274	+	Intron	SNP	T	T	C	0	1	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	ctatttctggacacactaatTgcttcagaagcctctccaaa	12	12	5	12	0	3	1	1	0	2	1	4	2	3	2	2	1	2	1	2	1	4	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:85435274T>C	ENST00000528231.1	-	8	1737				SYTL2_ENST00000525423.1_Silent_p.A742A|SYTL2_ENST00000359152.5_Silent_p.A1266A|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Silent_p.A742A|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ACACACTAATTGCTTCAGAAG	0.458																																																	0													78	76	76					11																	85435274		2203	4299	6502	SO:0001627	intron_variant	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3272A>G	11.37:g.85435274T>C			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A1266	ENST00000528231.1	37	c.3798	CCDS53688.1	11																																																																																			SYTL2	-	NULL	ENSG00000137501		0.458	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1		0	62	0	T	NM_206927		85435274	-1			no_errors	ENST00000359152	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.006	C	C	85435274	T	C	85435274	1	2	129	0	1	0	0	0	0	0	0	0	15530	1799	63	4		4	SYTL2	11	85435274	Intron	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	13624979	85435274	49571242	134	33189											
DDI1	414301	genome.wustl.edu	37	chr11	103908556	103908556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggcctagatatgctcCggagacatcaatgttccatc	10	12	8	11	1	2	2	1	0	1	2	5	3	4	2	3	2	1	2	3	2	4	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:103908556C>T	ENST00000302259.3	+	1	1249	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	336							aspartic-type endopeptidase activity (GO:0004190)	p.R336W(2)		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)		AGATATGCTCCGGAGACATCA	0.443																																																	2	Substitution - Missense(2)	kidney(2)											131	124	126					11																	103908556		2202	4299	6501	SO:0001583	missense	0				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.1006C>T	11.37:g.103908556C>T	ENSP00000302805:p.Arg336Trp		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.R336W	ENST00000302259.3	37	c.1006	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451721	0.43531	.	.	ENSG00000170967	ENST00000302259	T	0.51817	0.69	5.21	2.88	0.33553	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.101165	0.64402	D	0.000003	T	0.61986	0.2391	M	0.68317	2.08	0.43603	D	0.995963	D	0.76494	0.999	D	0.65573	0.936	T	0.63287	-0.6671	10	0.87932	D	0	-22.0794	10.8597	0.46819	0.6824:0.3176:0.0:0.0	.	336	Q8WTU0	DDI1_HUMAN	W	336	ENSP00000302805:R336W	ENSP00000302805:R336W	R	+	1	2	DDI1	103413766	1.000000	0.71417	0.989000	0.46669	0.138000	0.21146	4.376000	0.59556	0.522000	0.28464	-0.262000	0.10625	CGG	DDI1	-	pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom	ENSG00000170967		0.443	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1		0	53	0	C	NM_001001711		103908556	1			no_errors	ENST00000302259	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	103908556	C	T	103908556	3	4	129	1	0	0	0	0	1	0	0	0	4337	643	23	1	1008	1	DDI1	11	103908556	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	18473282	103908556	31097960	135	33190											
SIDT2	51092	genome.wustl.edu	37	chr11	117060948	117060948	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcttttcctgctcatcatCctgcaacgggagatcaacca	9	11	7	14	1	3	1	3	0	0	1	5	2	5	1	3	1	5	3	3	1	2	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:117060948C>A	ENST00000324225.4	+	17	2091	c.1560C>A	c.(1558-1560)atC>atA	p.I520I	SIDT2_ENST00000431081.2_Silent_p.I517I|SIDT2_ENST00000532062.1_5'Flank	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	520					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)		TGCTCATCATCCTGCAACGGG	0.602																																																	0													153	142	146					11																	117060948		2201	4296	6497	SO:0001819	synonymous_variant	0			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.1560C>A	11.37:g.117060948C>A			Q8NBY7|Q9Y357	Silent	SNP	NULL	p.I541	ENST00000324225.4	37	c.1623	CCDS31682.1	11																																																																																			SIDT2	-	NULL	ENSG00000149577		0.602	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1		0	30	0	C	NM_015996		117060948	1			no_errors	ENST00000278951	ensembl	human	known	74_37	silent	9.52	19	2	SNP	1.000	A	A	117060948	C	A	117060948	2	1	129	1	0	0	0	0	0	0	0	1	14348	845	30	3		3	SIDT2	11	117060948	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	13152392	117060948	17945568	136	33191											
DSCAML1	57453	genome.wustl.edu	37	chr11	117329510	117329510	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagcacactgctgcgtacGccgtccccagcctgggtgta	7	8	12	14	3	0	1	0	0	0	1	1	1	1	1	4	1	5	4	4	1	3	3	rs370976379		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:117329510G>A	ENST00000321322.6	-	19	3709	c.3708C>T	c.(3706-3708)ggC>ggT	p.G1236G	DSCAML1_ENST00000527706.1_Silent_p.G966G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1176	Fibronectin type-III 4. {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)	p.G1236G(1)		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)		TGCTGCGTACGCCGTCCCCAG	0.647																																																	1	Substitution - coding silent(1)	large_intestine(1)						A		1,4401	2.1+/-5.4	0,1,2200	100	80	87		3708	-5.3	0.6	11		87	0,8592		0,0,4296	no	coding-synonymous	DSCAML1	NM_020693.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		1236/2114	117329510	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	0				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.3708C>T	11.37:g.117329510G>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1236	ENST00000321322.6	37	c.3708	CCDS8384.1	11																																																																																			DSCAML1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000177103		0.647	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2		0	55	0	G	NM_020693		117329510	-1			no_errors	ENST00000321322	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.256	A	A	117329510	G	A	117329510	2	1	129	1	0	0	0	0	0	0	0	1	4783	1074	38	1		1	DSCAML1	11	117329510	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	268562	117329510	17677006	137	33192											
IFFO1	25900	genome.wustl.edu	37	chr12	6660125	6660125	+	Silent	SNP	A	A	G	1	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	acctcctggagctcatttacAcggtcttgcagctggatccg	7	11	10	13	2	2	0	1	0	1	0	4	2	4	2	3	3	4	3	3	3	1	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:6660125A>G	ENST00000396840.2	-	2	857	c.816T>C	c.(814-816)cgT>cgC	p.R272R	IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000336604.4_Silent_p.R272R|IFFO1_ENST00000465801.1_5'UTR|IFFO1_ENST00000356896.4_Silent_p.R272R			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	272						intermediate filament (GO:0005882)		p.D271fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GCTCATTTACACGGTCTTGCA	0.622																																																	1	Deletion - Frameshift(1)	ovary(1)											166	138	148					12																	6660125		2203	4300	6503	SO:0001819	synonymous_variant	0			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.816T>C	12.37:g.6660125A>G			Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	NULL	p.R272	ENST00000396840.2	37	c.816		12	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438812	0.25900	.	.	ENSG00000010295	ENST00000416019	.	.	.	4.12	-5.37	0.02681	.	.	.	.	.	T	0.36690	0.0976	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39761	-0.9598	4	.	.	.	-6.736	2.3152	0.04197	0.272:0.0711:0.3365:0.3203	.	.	.	.	A	4	.	.	V	-	2	0	IFFO1	6530386	0.383000	0.25156	0.752000	0.31206	0.948000	0.59901	-0.527000	0.06200	-0.644000	0.05465	-0.464000	0.05259	GTG	IFFO1	-	NULL	ENSG00000010295		0.622	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	IFFO1	HGNC	protein_coding	OTTHUMT00000280428.1		0	49	0	A	NM_080730		6660125	-1			no_errors	ENST00000356896	ensembl	human	known	74_37	silent	7.50	37	3	SNP	0.989	G	G	6660125	A	G	6660125	2	3	129	1	0	0	0	0	0	0	0	1	7537	146	6	4		4	IFFO1	12	6660125	Silent	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09		6660125	127191770	138	33193											
USP5	8078	genome.wustl.edu	37	chr12	6975191	6975191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtgtgtgcctccgagaagCcgcccaaggacctgggctac	9	6	13	13	2	0	1	0	0	0	1	1	3	1	2	5	2	3	1	5	2	4	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:6975191C>T	ENST00000229268.8	+	20	2579	c.2527C>T	c.(2527-2529)Ccg>Tcg	p.P843S	USP5_ENST00000389231.5_Missense_Mutation_p.P820S|TPI1_ENST00000229270.4_5'Flank|TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000396705.5_5'Flank|TPI1_ENST00000535434.1_5'Flank	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	843	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CTCCGAGAAGCCGCCCAAGGA	0.537																																																	0													108	102	104					12																	6975191		2203	4300	6503	SO:0001583	missense	0			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.2527C>T	12.37:g.6975191C>T	ENSP00000229268:p.Pro843Ser		D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.P843S	ENST00000229268.8	37	c.2527	CCDS41743.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.185094	0.94885	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.28895	1.59;1.59	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.049820	0.85682	D	0.000000	T	0.64800	0.2631	M	0.91038	3.17	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.74023	0.98;0.982	T	0.73563	-0.3943	10	0.62326	D	0.03	-5.0767	18.2591	0.90028	0.0:1.0:0.0:0.0	.	843;820	P45974;P45974-2	UBP5_HUMAN;.	S	843;820	ENSP00000229268:P843S;ENSP00000373883:P820S	ENSP00000229268:P843S	P	+	1	0	USP5	6845452	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.651000	0.83577	2.539000	0.85634	0.561000	0.74099	CCG	USP5	-	pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67	ENSG00000111667		0.537	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP5	HGNC	protein_coding	OTTHUMT00000402982.1		0	85	0	C			6975191	1			no_errors	ENST00000229268	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	6975191	C	T	6975191	3	4	129	1	0	0	0	0	1	0	0	0	17130	739	26	3	2605	3	USP5	12	6975191	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	315066	6975191	126876704	139	33194											
KLRD1	3824	genome.wustl.edu	37	chr12	10464159	10464159	+	Missense_Mutation	SNP	A	A	T	1	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	aacttggaacgaaagtcggcAtctctgtgcttctcagaaat	12	11	9	9	2	2	1	1	0	2	1	5	3	2	2	0	2	3	2	0	2	4	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:10464159A>T	ENST00000381907.4	+	5	462	c.260A>T	c.(259-261)cAt>cTt	p.H87L	KLRD1_ENST00000381908.3_Missense_Mutation_p.H87L|KLRD1_ENST00000543777.1_Missense_Mutation_p.H66L|KLRD1_ENST00000543420.1_Missense_Mutation_p.H87L|KLRD1_ENST00000350274.5_Missense_Mutation_p.H56L|KLRD1_ENST00000336164.4_Missense_Mutation_p.H87L|KLRD1_ENST00000538997.1_3'UTR	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	87	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GAAAGTCGGCATCTCTGTGCT	0.428																																																	0													101	91	95					12																	10464159		2203	4300	6503	SO:0001583	missense	0			U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"Killer cell lectin-like receptors", "CD molecules"	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.260A>T	12.37:g.10464159A>T	ENSP00000371332:p.His87Leu		O43321|O43773|Q9UBE3|Q9UEQ0	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.H87L	ENST00000381907.4	37	c.260	CCDS8621.1	12	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036713	0.35893	.	.	ENSG00000134539	ENST00000544747;ENST00000381907;ENST00000381908;ENST00000336164;ENST00000350274;ENST00000543420;ENST00000543777	T;T;T;T;T;T;T	0.43294	0.95;2.41;0.95;2.41;0.95;0.95;2.41	5.77	-1.64	0.08318	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.450310	0.03933	N	0.285687	T	0.19805	0.0476	N	0.11927	0.2	0.09310	N	1	B;B;B;B	0.19817	0.018;0.039;0.018;0.023	B;B;B;B	0.17722	0.011;0.011;0.011;0.019	T	0.09684	-1.0663	10	0.11485	T	0.65	.	1.725	0.02920	0.3268:0.3374:0.0811:0.2547	.	66;87;56;87	F6WZH4;Q13241-2;Q13241-3;Q13241	.;.;.;KLRD1_HUMAN	L	56;87;87;87;56;87;66	ENSP00000438669:H56L;ENSP00000371332:H87L;ENSP00000371333:H87L;ENSP00000338130:H87L;ENSP00000310929:H56L;ENSP00000441074:H87L;ENSP00000443584:H66L	ENSP00000338130:H87L	H	+	2	0	KLRD1	10355426	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.391000	0.20784	-0.052000	0.13311	-0.327000	0.08410	CAT	KLRD1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000134539		0.428	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLRD1	HGNC	protein_coding	OTTHUMT00000399684.2	-	0	93	0	A	NM_002262		10464159	1	tier1	-	no_errors	ENST00000381908	ensembl	human	known	74_37	missense	33.96	35	18	SNP	0.000	T	T	10464159	A	T	10464159	3	4	129	1	0	0	0	0	1	0	0	0	8446	217	8	5	274	5	KLRD1	12	10464159	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	3488968	10464159	123387736	140	33195											
C12orf36	283422	genome.wustl.edu	37	chr12	13529163	13529163	+	Silent	SNP	C	C	A	0	0	0	1	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	ctgtttcccactcacctccaCagcctctgagtccctccaag	7	10	5	19	0	2	1	1	1	1	0	6	1	6	1	6	0	1	1	6	0	1	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:13529163C>A	ENST00000318426.2	-	2	394	c.177G>T	c.(175-177)ctG>ctT	p.L59L	C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000539026.1_Silent_p.L59L|C12orf36_ENST00000527705.2_Silent_p.L59L|C12orf36_ENST00000532841.1_Silent_p.L59L					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		ctcacctccacagcctctgag	0.493																																																	0													91	92	92					12																	13529163		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.177G>T	12.37:g.13529163C>A				Silent	SNP	NULL	p.L59	ENST00000318426.2	37	c.177		12																																																																																			C12orf36	-	NULL	ENSG00000180861		0.493	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	C12orf36	HGNC	protein_coding	OTTHUMT00000395025.2	-	0	107	0	C	NM_182558		13529163	-1	tier1	-	no_errors	ENST00000318426	ensembl	human	known	74_37	silent	33.33	52	26	SNP	0.000	A	A	13529163	C	A	13529163	2	1	129	1	0	0	0	0	0	0	0	1	1688	465	17	3		3	C12orf36	12	13529163	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	3065004	13529163	120322732	141	33196											
DDX11	1663	genome.wustl.edu	37	chr12	31256769	31256769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagaagtcggcctcttcctGatgggcaaccacaccactgc	9	7	11	14	1	1	2	0	1	1	1	3	3	2	2	4	3	2	1	4	3	2	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:31256769G>A	ENST00000407793.2	+	27	2966	c.2715G>A	c.(2713-2715)ctG>ctA	p.L905L	DDX11_ENST00000542838.1_Silent_p.*907*|DDX11_ENST00000228264.6_Silent_p.*881*|DDX11_ENST00000350437.4_Silent_p.*857*|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Silent_p.L905L	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	905					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)					GCCTCTTCCTGATGGGCAACC	0.582										Multiple Myeloma(12;0.14)																																							0													87	90	89					12																	31256769		2203	4299	6502	SO:0001819	synonymous_variant	0			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.2715G>A	12.37:g.31256769G>A			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.L905	ENST00000407793.2	37	c.2715	CCDS44856.1	12																																																																																			DDX11	-	NULL	ENSG00000013573		0.582	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	-	0	84	0	G	NM_030653		31256769	1	tier1	-	no_errors	ENST00000407793	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.259	A	A	31256769	G	A	31256769	2	1	129	1	0	0	0	0	0	0	0	1	4352	1285	45	3		3	DDX11	12	31256769	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	17727606	31256769	102595126	142	33197											
ASB8	140461	genome.wustl.edu	37	chr12	48543223	48543223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgcatcggggagatactGgagtcccaggctacggcgca	9	6	14	12	3	0	1	0	0	0	1	2	3	1	2	1	5	3	3	1	5	2	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:48543223G>T	ENST00000317697.3	-	4	962	c.793C>A	c.(793-795)Cag>Aag	p.Q265K	ASB8_ENST00000536549.1_Missense_Mutation_p.Q265K|ASB8_ENST00000537754.1_5'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	265	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GGGAGATACTGGAGTCCCAGG	0.517																																																	0													63	62	63					12																	48543223		2203	4300	6503	SO:0001583	missense	0			AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"Ankyrin repeat domain containing"	17183	protein-coding gene	gene with protein product		615053	"ankyrin repeat and SOCS box-containing 8"			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.793C>A	12.37:g.48543223G>T	ENSP00000320893:p.Gln265Lys		A8K1P2|Q547Q2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.Q265K	ENST00000317697.3	37	c.793	CCDS8761.1	12	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956425	0.34565	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549	T;T	0.39997	1.05;1.05	4.93	4.93	0.64822	SOCS protein, C-terminal (3);	0.195407	0.47455	D	0.000222	T	0.26085	0.0636	N	0.17800	0.525	0.80722	D	1	B	0.16802	0.019	B	0.19391	0.025	T	0.05733	-1.0867	10	0.06757	T	0.87	-13.7922	13.9871	0.64341	0.0:0.1517:0.8483:0.0	.	265	Q9H765	ASB8_HUMAN	K	265;265;232	ENSP00000320893:Q265K;ENSP00000445622:Q265K	ENSP00000320893:Q265K	Q	-	1	0	ASB8	46829490	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.989000	0.76219	2.749000	0.94314	0.655000	0.94253	CAG	ASB8	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C	ENSG00000177981		0.517	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB8	HGNC	protein_coding	OTTHUMT00000396497.1		0	56	0	G			48543223	-1			no_errors	ENST00000317697	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	48543223	G	T	48543223	3	4	129	1	0	0	0	0	1	0	0	0	1030	1357	47	3	77	3	ASB8	12	48543223	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	17286454	48543223	85308672	143	33198											
MLL2	8085	genome.wustl.edu	37	chr12	49432030	49432030	+	Frame_Shift_Del	DEL	G	G	-																															attgagcaggtcatccaagtGggggtcattggtctccaggt																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:49432030delG	ENST00000301067.7	-	34	9108	c.9109delC	c.(9109-9111)cacfs	p.H3037fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3037					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)										TCATCCAAGTGGGGGTCATTG	0.512																																																	0													99	100	100					12																	49432030		2027	4191	6218	SO:0001589	frameshift_variant	0			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.9109delC	12.37:g.49432030delG	ENSP00000301067:p.His3037fs		O14687	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.H3037fs	ENST00000301067.7	37	c.9109	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.512	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0	32	0	G			49432030	-1	tier1		no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_del	36.36	14	8	DEL	1.000	-	-	49432030	G	-	49432030	7	5	129	1	0	1	0	1	0	0	0	0	9659	1348	47	0	7588	0	MLL2	12	49432030	Frame_Shift_Del	DEL	G	TCGA-LN-A8HZ-01A-11D-A36J-09	888807	49432030	84419865	144	33199											
MAP3K12	7786	genome.wustl.edu	37	chr12	53878119	53878119	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agatgcagcaggatctgtcgGaatgatgggcgatttcgtgg	9	10	16	6	3	1	2	0	1	1	1	3	5	1	4	0	4	2	2	0	4	1	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:53878119G>C	ENST00000267079.2	-	8	1296	c.1071C>G	c.(1069-1071)ttC>ttG	p.F357L	MAP3K12_ENST00000547035.1_Missense_Mutation_p.F390L|MAP3K12_ENST00000547488.1_Missense_Mutation_p.F390L|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	357	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGATCTGTCGGAATGATGGGC	0.493																																																	0													168	114	132					12																	53878119		2203	4300	6503	SO:0001583	missense	0			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.1071C>G	12.37:g.53878119G>C	ENSP00000267079:p.Phe357Leu		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F357L	ENST00000267079.2	37	c.1071	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424968	0.83667	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.87103	-2.21;-2.21;-2.21	5.27	4.38	0.52667	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	D	0.000521	D	0.92189	0.7523	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92249	0.5807	10	0.87932	D	0	.	9.3425	0.38089	0.1662:0.0:0.8338:0.0	.	390;357	G3V1Y2;Q12852	.;M3K12_HUMAN	L	357;390;390	ENSP00000267079:F357L;ENSP00000449038:F390L;ENSP00000448689:F390L	ENSP00000267079:F357L	F	-	3	2	MAP3K12	52164386	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.395000	0.44459	1.385000	0.46445	0.561000	0.74099	TTC	MAP3K12	-	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000139625		0.493	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	-	0	79	0	G	NM_006301		53878119	-1	tier1	-	no_errors	ENST00000267079	ensembl	human	known	74_37	missense	12.50	49	7	SNP	1.000	C	C	53878119	G	C	53878119	3	2	129	1	0	0	0	0	1	0	0	0	9284	1165	41	5	1540	5	MAP3K12	12	53878119	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	4446089	53878119	79973776	145	33200											
CBX5	23468	genome.wustl.edu	37	chr12	54645841	54645841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacctctctcttttttttaGatttgatgtcatcggcactg	6	20	6	9	1	3	2	1	1	2	1	5	2	3	2	1	1	1	1	1	1	2	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:54645841G>A	ENST00000439541.2	-	3	433	c.308C>T	c.(307-309)tCt>tTt	p.S103F	CBX5_ENST00000209875.4_Missense_Mutation_p.S103F|CBX5_ENST00000550411.1_Missense_Mutation_p.S103F	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	103					blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CTTTTTTTTAGATTTGATGTC	0.323																																					Colon(153;588 2459 18334 48613)												0													146	152	150					12																	54645841		2203	4300	6503	SO:0001583	missense	0			U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"HP1 alpha homolog (Drosophila)"	604478	"chromobox homolog 5 (Drosophila HP1 alpha)", "chromobox homolog 5 (HP1 alpha homolog, Drosophila)"			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.308C>T	12.37:g.54645841G>A	ENSP00000401009:p.Ser103Phe		B2R8T9	Missense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.S103F	ENST00000439541.2	37	c.308	CCDS8875.1	12	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410875	0.62399	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411	T;T;T	0.49139	0.79;0.79;0.79	5.22	5.22	0.72569	.	0.532629	0.19831	N	0.105100	T	0.40347	0.1113	N	0.24115	0.695	0.80722	D	1	B;B	0.31351	0.32;0.209	B;B	0.35182	0.136;0.197	T	0.38542	-0.9656	10	0.66056	D	0.02	-5.3919	16.6904	0.85320	0.0:0.0:1.0:0.0	.	103;103	G3V1X9;P45973	.;CBX5_HUMAN	F	103	ENSP00000209875:S103F;ENSP00000401009:S103F;ENSP00000449207:S103F	ENSP00000209875:S103F	S	-	2	0	CBX5	52932108	1.000000	0.71417	0.970000	0.41538	0.973000	0.67179	9.051000	0.93849	2.894000	0.99253	0.655000	0.94253	TCT	CBX5	-	NULL	ENSG00000094916		0.323	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CBX5	HGNC	protein_coding	OTTHUMT00000405468.1		0	31	0	G	NM_012117		54645841	-1			no_errors	ENST00000209875	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.997	A	A	54645841	G	A	54645841	3	1	129	1	0	0	0	0	1	0	0	0	2728	942	33	3	279	3	CBX5	12	54645841	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	767722	54645841	79206054	146	33201											
GPR182	11318	genome.wustl.edu	37	chr12	57390113	57390113	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	atagccagcctgctgcagcaGccccccaccctgagccaagc	9	4	9	19	0	0	1	0	1	0	0	0	1	0	1	7	0	8	3	7	0	2	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:57390113G>A	ENST00000300098.1	+	2	1339	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	374					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						TGCTGCAGCAGCCCCCCACCC	0.577																																																	0													84	79	80					12																	57390113		2203	4300	6503	SO:0001583	missense	0			Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"GPCR / Class A : Orphans"	13708	protein-coding gene	gene with protein product		605307	"adrenomedullin receptor"	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.1120G>A	12.37:g.57390113G>A	ENSP00000300098:p.Ala374Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.A374T	ENST00000300098.1	37	c.1120	CCDS8927.1	12	.	.	.	.	.	.	.	.	.	.	G	5.283	0.237592	0.10023	.	.	ENSG00000166856	ENST00000300098	T	0.70749	-0.51	4.81	-2.02	0.07388	.	0.832015	0.10312	N	0.689800	T	0.41766	0.1173	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15464	-1.0436	10	0.32370	T	0.25	.	2.2732	0.04095	0.3237:0.1213:0.4316:0.1235	.	374	O15218	GP182_HUMAN	T	374	ENSP00000300098:A374T	ENSP00000300098:A374T	A	+	1	0	GPR182	55676380	0.006000	0.16342	0.000000	0.03702	0.013000	0.08279	1.569000	0.36428	-0.416000	0.07473	-1.786000	0.00637	GCC	GPR182	-	NULL	ENSG00000166856		0.577	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR182	HGNC	protein_coding	OTTHUMT00000411212.1	-	0	68	0	G	NM_007264		57390113	1	tier1	-	no_errors	ENST00000300098	ensembl	human	known	74_37	missense	44.68	26	21	SNP	0.000	A	A	57390113	G	A	57390113	3	1	129	1	0	0	0	0	1	0	0	0	6703	971	34	3	1122	3	GPR182	12	57390113	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	2744272	57390113	76461782	147	33202											
GNPTAB	79158	genome.wustl.edu	37	chr12	102183823	102183823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaacaacgtcaatcggcatGggcagacaaagcctagggca	15	5	11	10	2	1	1	1	0	0	1	2	1	1	1	1	3	3	3	1	3	6	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:102183823G>A	ENST00000299314.7	-	3	478	c.216C>T	c.(214-216)ccC>ccT	p.P72P	snoU13_ENST00000459085.1_RNA|GNPTAB_ENST00000549940.1_Silent_p.P72P	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	72					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)	p.P72P(1)		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						CAATCGGCATGGGCAGACAAA	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											180	160	167					12																	102183823		2203	4300	6503	SO:0001819	synonymous_variant	0			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.216C>T	12.37:g.102183823G>A			A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom	p.P72	ENST00000299314.7	37	c.216	CCDS9088.1	12																																																																																			GNPTAB	-	NULL	ENSG00000111670		0.433	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1		0	90	0	G			102183823	-1			no_errors	ENST00000299314	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	A	A	102183823	G	A	102183823	2	1	129	1	0	0	0	0	0	0	0	1	6571	1335	47	3		3	GNPTAB	12	102183823	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	44793710	102183823	31668072	148	33203											
MED13L	23389	genome.wustl.edu	37	chr12	116446894	116446894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctggttgagatactgtggGaggtcgattgggcccgactg	6	10	16	9	2	0	1	0	1	0	1	1	5	0	2	2	4	1	1	2	4	1	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:116446894G>T	ENST00000281928.3	-	10	1530	c.1324C>A	c.(1324-1326)Ccc>Acc	p.P442T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	442						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)		GATACTGTGGGAGGTCGATTG	0.408																																																	0													144	135	138					12																	116446894		2203	4300	6503	SO:0001583	missense	0			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.1324C>A	12.37:g.116446894G>T	ENSP00000281928:p.Pro442Thr		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.P442T	ENST00000281928.3	37	c.1324	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051562	0.36181	.	.	ENSG00000123066	ENST00000281928	T	0.73469	-0.75	5.76	4.87	0.63330	.	0.235162	0.44097	D	0.000493	T	0.68357	0.2992	L	0.59436	1.845	0.41923	D	0.990528	B	0.33826	0.427	B	0.32211	0.142	T	0.67772	-0.5584	10	0.39692	T	0.17	.	10.9009	0.47051	0.1431:0.0:0.8569:0.0	.	442	Q71F56	MD13L_HUMAN	T	442	ENSP00000281928:P442T	ENSP00000281928:P442T	P	-	1	0	MED13L	114931277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.662000	0.46766	1.453000	0.47775	0.655000	0.94253	CCC	MED13L	-	NULL	ENSG00000123066		0.408	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0	92	0	G			116446894	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	116446894	G	T	116446894	3	4	129	1	0	0	0	0	1	0	0	0	9469	1174	41	3	5396	3	MED13L	12	116446894	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	14263071	116446894	17405001	149	33204											
RHOF	54509	genome.wustl.edu	37	chr12	122219079	122219079	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtaggacaggggccgcagCcggtcatagtcttcttgccc	6	9	14	12	2	3	0	1	0	2	0	3	1	3	1	3	5	2	2	3	5	2	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:122219079C>T	ENST00000267205.2	-	3	874	c.246G>A	c.(244-246)cgG>cgA	p.R82R	RHOF_ENST00000537265.1_5'UTR|RHOF_ENST00000537171.1_Silent_p.R82R|TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_Intron	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	82					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|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)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGGGCCGCAGCCGGTCATAGT	0.617																																																	0													98	93	95					12																	122219079		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"ras homolog gene family, member F (in filopodia)"	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.246G>A	12.37:g.122219079C>T			Q8WVB1|Q9NXH6	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R82	ENST00000267205.2	37	c.246	CCDS9222.1	12																																																																																			RHOF	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000139725		0.617	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOF	HGNC	protein_coding	OTTHUMT00000402165.1	-	0	71	0	C			122219079	-1	tier1	-	no_errors	ENST00000267205	ensembl	human	known	74_37	silent	8.93	51	5	SNP	0.965	T	T	122219079	C	T	122219079	2	4	129	1	0	0	0	0	0	0	0	1	13383	726	26	3		3	RHOF	12	122219079	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	5772185	122219079	11632816	150	33205											
GPR109B	8843	genome.wustl.edu	37	chr12	123200854	123200854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcaagagatgatggctGctgtccaattggagatcttg	11	10	14	6	0	1	3	0	1	1	2	2	6	2	3	1	3	1	3	1	3	3	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:123200854G>A	ENST00000528880.2	-	1	585	c.431C>T	c.(430-432)gCa>gTa	p.A144V	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	144					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GATGATGGCTGCTGTCCAATT	0.547																																																	0													116	111	113					12																	123200854		2203	4300	6503	SO:0001583	missense	0			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.431C>T	12.37:g.123200854G>A	ENSP00000436714:p.Ala144Val		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A144V	ENST00000528880.2	37	c.431	CCDS53842.1	12	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413155	0.25465	.	.	ENSG00000255398	ENST00000528880	T	0.40225	1.04	3.26	2.36	0.29203	.	.	.	.	.	T	0.61949	0.2388	M	0.85373	2.75	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.50268	-0.8848	9	0.87932	D	0	.	4.2858	0.10855	0.1289:0.0:0.6486:0.2225	.	144	E9PI97	.	V	144	ENSP00000436714:A144V	ENSP00000436714:A144V	A	-	2	0	HCAR3	121766807	0.990000	0.36364	0.004000	0.12327	0.199000	0.23934	2.226000	0.42963	0.468000	0.27243	0.184000	0.17185	GCA	HCAR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000255398		0.547	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR3	HGNC	protein_coding	OTTHUMT00000387549.2	-	0	76	0	G	NM_006018		123200854	-1	tier1	-	no_errors	ENST00000528880	ensembl	human	known	74_37	missense	7.46	62	5	SNP	0.071	A	A	123200854	G	A	123200854	3	1	129	1	0	0	0	0	1	0	0	0	6652	1319	46	3	736	3	GPR109B	12	123200854	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	981775	123200854	10651041	151	33206											
PGAM5	192111	genome.wustl.edu	37	chr12	133295362	133295362	+	Intron	SNP	T	T	C	0	1	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	tggcagcatcccgccgctgtTgtccgctggggattttgtgc	3	12	14	12	3	0	0	0	0	0	0	2	1	2	1	3	3	2	5	3	3	0	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:133295362T>C	ENST00000498926.2	+	5	777				PGAM5_ENST00000454808.2_Intron|PGAM5_ENST00000543955.1_Intron|PXMP2_ENST00000545677.1_Intron|PGAM5_ENST00000541034.1_Intron|PGAM5_ENST00000317555.2_Missense_Mutation_p.L245S	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5						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)		CCGCCGCTGTTGTCCGCTGGG	0.597																																																	0													141	120	127					12																	133295362		2203	4300	6503	SO:0001627	intron_variant	0			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.719+656T>C	12.37:g.133295362T>C			A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1	p.L245S	ENST00000498926.2	37	c.734	CCDS53845.1	12	.	.	.	.	.	.	.	.	.	.	T	3.718	-0.058110	0.07317	.	.	ENSG00000247077	ENST00000317555	.	.	.	0.5	-1.0	0.10196	.	0.065845	0.64402	U	0.000008	T	0.23410	0.0566	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.08472	-1.0720	7	0.34782	T	0.22	.	.	.	.	.	245	Q96HS1-2	.	S	245	.	ENSP00000321503:L245S	L	+	2	0	PGAM5	131805435	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.818000	0.04467	-0.352000	0.08237	-0.569000	0.04157	TTG	PGAM5	-	NULL	ENSG00000247077		0.597	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM5	HGNC	protein_coding	OTTHUMT00000397562.1	-	0	72	0	T	NM_138575		133295362	1	tier1	-	no_errors	ENST00000317555	ensembl	human	known	74_37	missense	34.21	25	13	SNP	0.003	C	C	133295362	T	C	133295362	1	2	129	0	1	0	0	0	0	0	0	0	11815	1821	63	4		4	PGAM5	12	133295362	Intron	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	10094508	133295362	556533	152	33207											
MTUS2	23281	genome.wustl.edu	37	chr13	29600336	29600336	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcacgggaaagcaaaGaggtcaccacatctgttgct	14	6	11	10	1	2	2	1	0	1	2	2	3	2	3	1	2	3	4	1	2	3	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr13:29600336G>T	ENST00000431530.3	+	1	1589	c.1531G>T	c.(1531-1533)Gag>Tag	p.E511*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	501						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGAAAGCAAAGAGGTCACCAC	0.483																																																	0													85	90	89					13																	29600336		1980	4159	6139	SO:0001587	stop_gained	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1531G>T	13.37:g.29600336G>T	ENSP00000392057:p.Glu511*		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Nonsense_Mutation	SNP	NULL	p.E511*	ENST00000431530.3	37	c.1531	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	37	6.254543	0.97417	.	.	ENSG00000132938	ENST00000431530	.	.	.	5.92	0.375	0.16188	.	1.490410	0.04009	N	0.297792	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0216	0.30412	0.2361:0.3168:0.447:0.0	.	.	.	.	X	511	.	.	E	+	1	0	MTUS2	28498336	0.018000	0.18449	0.001000	0.08648	0.002000	0.02628	1.211000	0.32382	0.076000	0.16826	0.655000	0.94253	GAG	MTUS2	-	NULL	ENSG00000132938		0.483	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3		0	103	0	G	XM_166270		29600336	1			no_errors	ENST00000431530	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.000	T	T	29600336	G	T	29600336	4	4	129	1	0	0	0	0	0	1	0	0	10004	943	33	3	1533	3	MTUS2	13	29600336	Nonsense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09		29600336	85569542	153	33208											
IPO5	3843	genome.wustl.edu	37	chr13	98670884	98670884	+	Missense_Mutation	SNP	T	T	A	0	1	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	atgtgacaacagcccagaagTcaggcaagcagctgcatatg	14	6	11	10	0	1	2	1	1	0	1	1	2	1	2	1	1	5	4	1	1	4	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr13:98670884T>A	ENST00000490680.1	+	23	2827	c.2762T>A	c.(2761-2763)gTc>gAc	p.V921D	IPO5_ENST00000539640.1_Missense_Mutation_p.V796D|IPO5_ENST00000261574.5_Missense_Mutation_p.V939D			O00410	IPO5_HUMAN	importin 5	921					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						AGCCCAGAAGTCAGGCAAGCA	0.438																																																	0													179	138	152					13																	98670884		2203	4300	6503	SO:0001583	missense	0			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.2762T>A	13.37:g.98670884T>A	ENSP00000418393:p.Val921Asp		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.V939D	ENST00000490680.1	37	c.2816		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.505617|4.505617	0.85282|0.85282	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.73152	.|-0.72;-0.72;-0.72;-0.72	5.82|5.82	4.65|4.65	0.58169|0.58169	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86151|0.86151	0.5864|0.5864	M|M	0.91038|0.91038	3.17|3.17	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.87940|0.87940	0.2716|0.2716	5|10	.|0.87932	.|D	.|0	-14.0128|-14.0128	11.558|11.558	0.50759|0.50759	0.0:0.0693:0.0:0.9306|0.0:0.0693:0.0:0.9306	.|.	.|939	.|O00410-3	.|.	T|D	923|939;921;921;796	.|ENSP00000261574:V939D;ENSP00000350219:V921D;ENSP00000418393:V921D;ENSP00000445126:V796D	.|ENSP00000261574:V939D	S|V	+|+	1|2	0|0	IPO5|IPO5	97468885|97468885	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.814000|7.814000	0.86154|0.86154	1.046000|1.046000	0.40249|0.40249	0.528000|0.528000	0.53228|0.53228	TCA|GTC	IPO5	-	pfam_HEAT,superfamily_ARM-type_fold	ENSG00000065150		0.438	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	-	0	126	0	T	NM_002271		98670884	1	tier1	-	no_errors	ENST00000261574	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A	A	98670884	T	A	98670884	3	1	129	1	0	0	0	0	1	0	0	0	7823	1667	58	5	2910	5	IPO5	13	98670884	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	69070548	98670884	16498994	154	33209											
NYNRIN	57523	genome.wustl.edu	37	chr14	24884194	24884194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccctgccagcaggttcttgCccacctggcccagctcacca	6	8	8	19	0	2	0	1	0	1	0	3	0	3	0	6	2	4	3	6	2	0	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:24884194C>T	ENST00000382554.3	+	9	3557	c.3239C>T	c.(3238-3240)gCc>gTc	p.A1080V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1080					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						CAGGTTCTTGCCCACCTGGCC	0.627																																																	0													75	83	81					14																	24884194		2070	4218	6288	SO:0001583	missense	0			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.3239C>T	14.37:g.24884194C>T	ENSP00000371994:p.Ala1080Val		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.A1080V	ENST00000382554.3	37	c.3239	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159396	0.78226	.	.	ENSG00000205978	ENST00000382554	T	0.43688	0.94	4.45	3.48	0.39840	.	.	.	.	.	T	0.41026	0.1141	M	0.75615	2.305	0.22866	N	0.998635	B	0.30793	0.295	B	0.24701	0.055	T	0.38243	-0.9670	9	0.56958	D	0.05	.	8.6969	0.34301	0.2446:0.7554:0.0:0.0	.	1080	Q9P2P1	NYNRI_HUMAN	V	1080	ENSP00000371994:A1080V	ENSP00000371994:A1080V	A	+	2	0	NYNRIN	23954034	0.967000	0.33354	0.888000	0.34837	0.948000	0.59901	1.937000	0.40193	2.296000	0.77279	0.561000	0.74099	GCC	NYNRIN	-	NULL	ENSG00000205978		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1		0	35	0	C			24884194	1			no_errors	ENST00000382554	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.778	T	T	24884194	C	T	24884194	3	4	129	1	0	0	0	0	1	0	0	0	10835	739	26	3	3269	3	NYNRIN	14	24884194	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09		24884194	82465346	155	33210											
PPP2R3C	55012	genome.wustl.edu	37	chr14	35564324	35564324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattggtcatggtagctgttCcatagcgtgagagttcttct	7	15	11	8	1	3	1	1	1	2	1	4	2	4	1	1	2	2	4	1	2	2	6	rs377037544		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:35564324C>T	ENST00000261475.5	-	10	1258	c.905G>A	c.(904-906)gGa>gAa	p.G302E		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	302	EF-hand 1.				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)		GGTAGCTGTTCCATAGCGTGA	0.388																																																	0													133	120	124					14																	35564324		2203	4300	6503	SO:0001583	missense	0			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.905G>A	14.37:g.35564324C>T	ENSP00000261475:p.Gly302Glu		B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	NULL	p.G302E	ENST00000261475.5	37	c.905	CCDS9654.1	14	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695649	0.88830	.	.	ENSG00000092020	ENST00000261475;ENST00000555219	T;T	0.73047	-0.71;-0.27	5.25	4.36	0.52297	EF-hand-like domain (1);	0.050601	0.85682	N	0.000000	D	0.83543	0.5277	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.85462	0.1167	10	0.56958	D	0.05	-7.1172	14.1201	0.65182	0.0:0.9271:0.0:0.0729	.	302	Q969Q6	P2R3C_HUMAN	E	302;23	ENSP00000261475:G302E;ENSP00000452173:G23E	ENSP00000261475:G302E	G	-	2	0	PPP2R3C	34634075	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	1.351000	0.45789	0.655000	0.94253	GGA	PPP2R3C	-	NULL	ENSG00000092020		0.388	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3C	HGNC	protein_coding	OTTHUMT00000276687.1		0	84	0	C	NM_017917		35564324	-1			no_errors	ENST00000261475	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	35564324	C	T	35564324	3	4	129	1	0	0	0	0	1	0	0	0	12432	855	30	3	472	3	PPP2R3C	14	35564324	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	10680130	35564324	71785216	156	33211											
RTN1	6252	genome.wustl.edu	37	chr14	60194151	60194151	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgcggccatggggtcctcGgacaccagctcgatctctga	6	8	12	15	4	1	1	0	1	1	0	6	3	3	2	4	4	1	1	4	4	0	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:60194151G>A	ENST00000267484.5	-	3	1586	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	417					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)		TGGGGTCCTCGGACACCAGCT	0.716																																																	0													15	14	14					14																	60194151		2167	4201	6368	SO:0001819	synonymous_variant	0			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.1251C>T	14.37:g.60194151G>A			Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP	pfam_Reticulon,pfscan_Reticulon	p.S417	ENST00000267484.5	37	c.1251	CCDS9740.1	14																																																																																			RTN1	-	NULL	ENSG00000139970		0.716	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2		0	30	0	G			60194151	-1			no_errors	ENST00000267484	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.097	A	A	60194151	G	A	60194151	2	1	129	1	0	0	0	0	0	0	0	1	13770	1103	39	1		1	RTN1	14	60194151	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	24629827	60194151	47155389	157	33212											
SYNE2	23224	genome.wustl.edu	37	chr14	64691245	64691245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcctcctgcaacatccGtgccagctccccgagcaaag	10	5	8	18	2	0	0	0	0	0	0	3	1	3	0	7	0	6	3	7	0	2	0	rs202235545		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:64691245G>T	ENST00000344113.4	+	113	20592	c.20380G>T	c.(20380-20382)Gtg>Ttg	p.V6794L	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Missense_Mutation_p.V577L|SYNE2_ENST00000555022.1_Missense_Mutation_p.V672L|SYNE2_ENST00000357395.3_Missense_Mutation_p.V3179L|SYNE2_ENST00000394768.2_Missense_Mutation_p.V3179L|SYNE2_ENST00000555002.1_Missense_Mutation_p.V3451L|SYNE2_ENST00000441438.2_Missense_Mutation_p.V339L|SYNE2_ENST00000458046.2_Missense_Mutation_p.V465L|SYNE2_ENST00000554584.1_Missense_Mutation_p.V6710L|SYNE2_ENST00000358025.3_Missense_Mutation_p.V6817L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6794					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)		TGCAACATCCGTGCCAGCTCC	0.527																																																	0													73	75	74					14																	64691245		2203	4300	6503	SO:0001583	missense	0			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.20380G>T	14.37:g.64691245G>T	ENSP00000341781:p.Val6794Leu		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V6817L	ENST00000344113.4	37	c.20449	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	8.512	0.866749	0.17250	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.56611	0.92;4.18;0.87;0.45;4.27;4.18;3.82;3.34;3.01;2.83	4.04	-2.46	0.06461	.	1.970240	0.02496	N	0.090018	T	0.42291	0.1196	L	0.52364	1.645	0.09310	N	1	B;B;B;B;B;B;B;B	0.23540	0.01;0.028;0.087;0.087;0.018;0.001;0.001;0.004	B;B;B;B;B;B;B;B	0.23419	0.005;0.023;0.046;0.046;0.017;0.001;0.002;0.003	T	0.08638	-1.0712	10	0.34782	T	0.22	.	1.128	0.01739	0.3737:0.1458:0.3317:0.1488	.	451;3179;339;465;1196;6710;6794;6817	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	L	6817;3179;6794;6710;6716;3451;3179;672;577;465;339	ENSP00000350719:V6817L;ENSP00000349969:V3179L;ENSP00000341781:V6794L;ENSP00000452570:V6710L;ENSP00000450831:V3451L;ENSP00000378249:V3179L;ENSP00000451009:V672L;ENSP00000450605:V577L;ENSP00000391937:V465L;ENSP00000396794:V339L	ENSP00000261678:V6716L	V	+	1	0	SYNE2	63760998	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.574000	0.02133	-0.530000	0.06349	-0.263000	0.10527	GTG	SYNE2	-	NULL	ENSG00000054654		0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	70	0	G	NM_182914		64691245	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	54.17	22	26	SNP	0.000	T	T	64691245	G	T	64691245	3	4	129	1	0	0	0	0	1	0	0	0	15493	1145	40	2	20941	2	SYNE2	14	64691245	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	4497094	64691245	42658295	158	33213											
C14orf102	55051	genome.wustl.edu	37	chr14	90764706	90764706	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctctccactgtcccaaaAgggttcaaagaattccacct	11	9	8	13	0	2	1	1	0	1	1	5	1	4	1	4	2	0	2	4	2	4	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:90764706A>G	ENST00000354366.3	-	8	1796	c.1564T>C	c.(1564-1566)Ttt>Ctt	p.F522L	NRDE2_ENST00000357904.3_Missense_Mutation_p.F291L	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	522								p.F522L(1)									CTGTCCCAAAAGGGTTCAAAG	0.547																																																	1	Substitution - Missense(1)	lung(1)											52	54	53					14																	90764706		2203	4300	6503	SO:0001583	missense	0			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.1564T>C	14.37:g.90764706A>G	ENSP00000346335:p.Phe522Leu		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.F522L	ENST00000354366.3	37	c.1564	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	A	35	5.489812	0.96339	.	.	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.27402	1.67;1.67	5.8	5.8	0.92144	Domain of unknown function DUF1740 (1);	0.061173	0.64402	D	0.000003	T	0.49490	0.1560	M	0.81802	2.56	0.80722	D	1	D	0.54047	0.964	P	0.51079	0.658	T	0.56715	-0.7933	10	0.72032	D	0.01	-13.3425	16.1382	0.81506	1.0:0.0:0.0:0.0	.	522	Q9H7Z3	CN102_HUMAN	L	522;291;101	ENSP00000346335:F522L;ENSP00000350579:F291L	ENSP00000346335:F522L	F	-	1	0	C14orf102	89834459	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.930000	0.92872	2.212000	0.71576	0.374000	0.22700	TTT	NRDE2	-	pfam_NRDE-2	ENSG00000119720		0.547	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	-	0	39	0	A	NM_017970		90764706	-1	tier1	-	no_errors	ENST00000354366	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	G	G	90764706	A	G	90764706	3	3	129	1	0	0	0	0	1	0	0	0	1740	72	3	4	1958	4	C14orf102	14	90764706	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	26073461	90764706	16584834	159	33214											
CPSF2	53981	genome.wustl.edu	37	chr14	92600367	92600367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtaggcatgttcaccaGattgatgcagtgctgttgtc	7	15	11	8	0	2	2	1	1	1	1	3	2	2	2	1	1	2	6	1	1	1	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:92600367G>T	ENST00000298875.4	+	4	447	c.162G>T	c.(160-162)caG>caT	p.Q54H		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	54					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)		ATGTTCACCAGATTGATGCAG	0.433																																					Ovarian(78;28 1788 18702 44111)												0													272	231	245					14																	92600367		2203	4300	6503	SO:0001583	missense	0			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.162G>T	14.37:g.92600367G>T	ENSP00000298875:p.Gln54His		B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.Q54H	ENST00000298875.4	37	c.162	CCDS9902.1	14	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380913	0.61845	.	.	ENSG00000165934	ENST00000298875;ENST00000553427	T;T	0.80123	-1.34;-1.34	5.88	4.99	0.66335	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	L	0.45228	1.405	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.82204	-0.0573	10	0.28530	T	0.3	.	13.0828	0.59123	0.1338:0.0:0.8662:0.0	.	54	Q9P2I0	CPSF2_HUMAN	H	54	ENSP00000298875:Q54H;ENSP00000451418:Q54H	ENSP00000298875:Q54H	Q	+	3	2	CPSF2	91670120	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	3.353000	0.52247	1.482000	0.48325	0.591000	0.81541	CAG	CPSF2	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	ENSG00000165934		0.433	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF2	HGNC	protein_coding	OTTHUMT00000412123.1		0	50	0	G			92600367	1			no_errors	ENST00000298875	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	92600367	G	T	92600367	3	4	129	1	0	0	0	0	1	0	0	0	3832	933	33	3	168	3	CPSF2	14	92600367	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	1835661	92600367	14749173	160	33215											
INF2	64423	genome.wustl.edu	37	chr14	105172386	105172386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcacagagacctggaggatgCcgacctgctgatccagctgg	9	6	14	12	1	0	2	0	1	0	1	1	6	1	4	4	3	3	3	4	3	0	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:105172386C>T	ENST00000392634.4	+	6	828	c.716C>T	c.(715-717)gCc>gTc	p.A239V	INF2_ENST00000330634.7_Missense_Mutation_p.A239V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	239	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CTGGAGGATGCCGACCTGCTG	0.667																																																	0													24	28	27					14																	105172386		2080	4195	6275	SO:0001583	missense	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.716C>T	14.37:g.105172386C>T	ENSP00000376410:p.Ala239Val		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.A239V	ENST00000392634.4	37	c.716	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288668	0.40494	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.87334	-2.24;-2.24	4.54	-0.214	0.13161	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	1.572440	0.03870	N	0.275505	T	0.80160	0.4572	L	0.41236	1.265	0.38208	D	0.940396	B;B	0.31769	0.291;0.339	B;B	0.31946	0.085;0.138	T	0.69800	-0.5047	10	0.46703	T	0.11	.	1.5167	0.02507	0.4406:0.1714:0.2616:0.1264	.	239;239	Q27J81-2;Q27J81	.;INF2_HUMAN	V	239	ENSP00000376406:A239V;ENSP00000376410:A239V	ENSP00000376406:A239V	A	+	2	0	INF2	104243431	0.126000	0.22350	0.034000	0.17996	0.946000	0.59487	0.656000	0.24948	0.110000	0.17919	0.462000	0.41574	GCC	INF2	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000203485		0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4		0	119	0	C	NM_022489		105172386	1			no_errors	ENST00000392634	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.037	T	T	105172386	C	T	105172386	3	4	129	1	0	0	0	0	1	0	0	0	7761	739	26	3	738	3	INF2	14	105172386	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	12572019	105172386	2177154	161	33216											
SLC12A6	9990	genome.wustl.edu	37	chr15	34567565	34567565	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctaacagttggctgtgttcCcctgtgatggagttctgact	6	14	11	10	0	1	2	0	2	1	0	2	3	2	3	3	2	1	4	3	2	1	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:34567565C>T	ENST00000354181.3	-	3	789	c.297G>A	c.(295-297)ggG>ggA	p.G99G	SLC12A6_ENST00000397702.2_Silent_p.G40G|SLC12A6_ENST00000458406.2_Silent_p.G40G|SLC12A6_ENST00000560611.1_Silent_p.G99G|SLC12A6_ENST00000290209.5_Silent_p.G48G|SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000558589.1_Silent_p.G90G|SLC12A6_ENST00000558667.1_Silent_p.G99G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	99					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)	GGCTGTGTTCCCCTGTGATGG	0.348																																																	0													87	75	79					15																	34567565		2201	4298	6499	SO:0001819	synonymous_variant	0			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.297G>A	15.37:g.34567565C>T			A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.G90	ENST00000354181.3	37	c.270	CCDS58352.1	15																																																																																			SLC12A6	-	NULL	ENSG00000140199		0.348	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	-	0	70	0	C	NM_005135		34567565	-1	tier1	-	no_errors	ENST00000558589	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T	T	34567565	C	T	34567565	2	4	129	1	0	0	0	0	0	0	0	1	14432	610	22	3		3	SLC12A6	15	34567565	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09		34567565	67963827	162	33217											
DNAJC17	55192	genome.wustl.edu	37	chr15	41071496	41071496	+	Missense_Mutation	SNP	T	T	G	0	1	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	cttcttggctttcctgacctTgtcatatgcagcctggcagg	5	14	10	12	0	2	1	1	1	1	0	3	1	3	1	3	3	2	3	3	3	1	5	rs377051762	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:41071496T>G	ENST00000220496.4	-	4	250	c.220A>C	c.(220-222)Aag>Cag	p.K74Q		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	74	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				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)		TTCCTGACCTTGTCATATGCA	0.552																																																	0													180	145	157					15																	41071496		2203	4300	6503	SO:0001583	missense	0			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.220A>C	15.37:g.41071496T>G	ENSP00000220496:p.Lys74Gln			Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.K74Q	ENST00000220496.4	37	c.220	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195573	0.58126	.	.	ENSG00000104129	ENST00000220496	D	0.81908	-1.55	5.52	5.52	0.82312	Heat shock protein DnaJ, N-terminal (3);	0.042471	0.85682	D	0.000000	T	0.69780	0.3149	N	0.10733	0.035	0.58432	D	0.999999	B	0.28801	0.223	B	0.34489	0.184	T	0.67405	-0.5679	10	0.22109	T	0.4	.	13.8737	0.63638	0.0:0.0:0.0:1.0	.	74	Q9NVM6	DJC17_HUMAN	Q	74	ENSP00000220496:K74Q	ENSP00000220496:K74Q	K	-	1	0	DNAJC17	38858788	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.964000	0.70379	2.104000	0.64026	0.528000	0.53228	AAG	DNAJC17	-	superfamily_DnaJ_domain,pfscan_DnaJ_domain	ENSG00000104129		0.552	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	HGNC	protein_coding	OTTHUMT00000252356.2	-	0	64	0	T	NM_018163		41071496	-1	tier1	-	no_errors	ENST00000220496	ensembl	human	known	74_37	missense	32.35	23	11	SNP	1.000	G	G	41071496	T	G	41071496	3	3	129	1	0	0	0	0	1	0	0	0	4650	1821	63	4	726	4	DNAJC17	15	41071496	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	6503931	41071496	61459896	163	33218											
UNC13C	440279	genome.wustl.edu	37	chr15	54916018	54916018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctattaatgacctaaactgGcagaccacagcaatgttccg	13	9	8	11	1	0	2	0	1	0	1	1	2	1	2	3	1	2	4	3	1	5	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:54916018G>T	ENST00000260323.11	+	31	6225	c.6225G>T	c.(6223-6225)tgG>tgT	p.W2075C	UNC13C_ENST00000537900.1_Missense_Mutation_p.W2073C|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000545554.1_Missense_Mutation_p.W2075C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2075	C2 2. {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)		ACCTAAACTGGCAGACCACAG	0.358																																																	0													78	74	75					15																	54916018		1837	4087	5924	SO:0001583	missense	0			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.6225G>T	15.37:g.54916018G>T	ENSP00000260323:p.Trp2075Cys		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.W2075C	ENST00000260323.11	37	c.6225	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265473	0.59431	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.68903	-0.36;-0.36;-0.36	5.72	5.72	0.89469	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.062950	0.64402	D	0.000002	D	0.83995	0.5375	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85688	0.1305	10	0.87932	D	0	.	18.8767	0.92341	0.0:0.0:1.0:0.0	.	2075	Q8NB66	UN13C_HUMAN	C	2075;2075;2073	ENSP00000260323:W2075C;ENSP00000438156:W2075C;ENSP00000442569:W2073C	ENSP00000260323:W2075C	W	+	3	0	UNC13C	52703310	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	9.738000	0.98835	2.700000	0.92200	0.563000	0.77884	TGG	UNC13C	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000137766		0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	106	0	G	NM_173166		54916018	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	54916018	G	T	54916018	3	4	129	1	0	0	0	0	1	0	0	0	17035	1212	42	3	6343	3	UNC13C	15	54916018	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	13844522	54916018	47615374	164	33219											
HERC1	8925	genome.wustl.edu	37	chr15	63966633	63966633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcgttccagatcagctaatCccaatgctctctttatgggt	8	14	7	12	1	2	1	1	0	1	1	6	1	4	1	2	1	2	3	2	1	3	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:63966633C>T	ENST00000443617.2	-	38	7841	c.7754G>A	c.(7753-7755)gGa>gAa	p.G2585E	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	2585					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						ATCAGCTAATCCCAATGCTCT	0.478																																																	0													62	61	61					15																	63966633		1971	4161	6132	SO:0001583	missense	0			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.7754G>A	15.37:g.63966633C>T	ENSP00000390158:p.Gly2585Glu		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.G2585E	ENST00000443617.2	37	c.7754	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113542	0.56398	.	.	ENSG00000103657	ENST00000443617	T	0.25414	1.8	5.87	5.87	0.94306	.	0.070493	0.53938	D	0.000048	T	0.22003	0.0530	N	0.19112	0.55	0.58432	D	0.999997	P	0.50443	0.935	B	0.41236	0.351	T	0.02093	-1.1215	10	0.66056	D	0.02	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	2585	Q15751	HERC1_HUMAN	E	2585	ENSP00000390158:G2585E	ENSP00000390158:G2585E	G	-	2	0	HERC1	61753686	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	3.946000	0.56644	2.775000	0.95449	0.650000	0.86243	GGA	HERC1	-	NULL	ENSG00000103657		0.478	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	69	0	C	NM_003922		63966633	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	32.79	41	20	SNP	0.999	T	T	63966633	C	T	63966633	3	4	129	1	0	0	0	0	1	0	0	0	7084	855	30	3	6995	3	HERC1	15	63966633	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	9050615	63966633	38564759	165	33220											
CLPX	10845	genome.wustl.edu	37	chr15	65471357	65471357	+	Silent	SNP	T	T	C	0	1	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	ttcccagaattcccagagccTgatttcttactacttccctc	8	14	4	15	0	1	3	0	1	1	2	5	3	4	3	4	0	3	0	4	0	3	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:65471357T>C	ENST00000300107.3	-	3	461	c.273A>G	c.(271-273)tcA>tcG	p.S91S		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	91					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TCCCAGAGCCTGATTTCTTAC	0.403																																																	0													125	114	118					15																	65471357		2202	4299	6501	SO:0001819	synonymous_variant	0			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"ATPases / AAA-type"	2088	protein-coding gene	gene with protein product		615611	"ClpX (caseinolytic protease X, E. coli) homolog", "ClpX caseinolytic protease X homolog (E. coli)", "ClpX caseinolytic peptidase X homolog (E. coli)"			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.273A>G	15.37:g.65471357T>C			A1L428|A8K8F1|B9EGI8|Q9H4D9	Silent	SNP	pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX	p.S91	ENST00000300107.3	37	c.273	CCDS10202.1	15																																																																																			CLPX	-	NULL	ENSG00000166855		0.403	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPX	HGNC	protein_coding	OTTHUMT00000256828.2	-	0	97	0	T	NM_006660		65471357	-1	tier1	-	no_errors	ENST00000300107	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.994	C	C	65471357	T	C	65471357	2	2	129	1	0	0	0	0	0	0	0	1	3563	1567	55	4		4	CLPX	15	65471357	Silent	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	1504724	65471357	37060035	166	33221											
UACA	55075	genome.wustl.edu	37	chr15	70960127	70960127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttctgggctttaatttCggcatgcagtgtcacaatct	7	16	8	10	1	4	0	1	0	3	0	5	0	4	0	0	2	1	3	0	2	2	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:70960127C>T	ENST00000322954.6	-	16	3081	c.2896G>A	c.(2896-2898)Gaa>Aaa	p.E966K	UACA_ENST00000379983.2_Missense_Mutation_p.E953K|UACA_ENST00000539319.1_Missense_Mutation_p.E857K|UACA_ENST00000560441.1_Missense_Mutation_p.E951K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	966					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						GCTTTAATTTCGGCATGCAGT	0.433																																																	0													172	160	164					15																	70960127		2199	4298	6497	SO:0001583	missense	0			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.2896G>A	15.37:g.70960127C>T	ENSP00000314556:p.Glu966Lys		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.E966K	ENST00000322954.6	37	c.2896	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556977	0.86231	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.81163	-1.46;-1.46;-1.46	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000003	D	0.89563	0.6751	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;P;D	0.85130	0.982;0.879;0.879;0.997	D	0.87147	0.2206	10	0.37606	T	0.19	-35.4893	20.3932	0.98965	0.0:1.0:0.0:0.0	.	857;966;966;953	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	K	966;953;857	ENSP00000314556:E966K;ENSP00000369319:E953K;ENSP00000438667:E857K	ENSP00000314556:E966K	E	-	1	0	UACA	68747181	1.000000	0.71417	0.679000	0.29978	0.657000	0.38888	7.395000	0.79876	2.824000	0.97209	0.655000	0.94253	GAA	UACA	-	NULL	ENSG00000137831		0.433	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2		0	49	0	C			70960127	-1			no_errors	ENST00000322954	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	70960127	C	T	70960127	3	4	129	1	0	0	0	0	1	0	0	0	16873	893	31	1	1370	1	UACA	15	70960127	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	5488770	70960127	31571265	167	33222											
GOLGA6D	653643	genome.wustl.edu	37	chr15	75586142	75586142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacgagagcttggattcGtccagccttctggagtgaca	10	9	13	9	2	1	3	0	1	1	2	3	7	2	5	2	2	2	1	2	2	0	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:75586142G>A	ENST00000434739.3	+	15	1707	c.1666G>A	c.(1666-1668)Gtc>Atc	p.V556I	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	556						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						GCTTGGATTCGTCCAGCCTTC	0.622																																																	0													34	54	51					15																	75586142		110	646	756	SO:0001583	missense	0				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.1666G>A	15.37:g.75586142G>A	ENSP00000391085:p.Val556Ile			Missense_Mutation	SNP	NULL	p.V556I	ENST00000434739.3	37	c.1666	CCDS45308.1	15	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.545858	0.00926	.	.	ENSG00000140478	ENST00000434739	T	0.17213	2.29	1.63	-1.32	0.09201	.	.	.	.	.	T	0.02807	0.0084	N	0.00178	-1.915	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.41574	-0.9501	9	0.21014	T	0.42	.	2.6651	0.05041	0.617:0.0:0.157:0.2259	.	556	P0CG33	GOG6D_HUMAN	I	556	ENSP00000391085:V556I	ENSP00000391085:V556I	V	+	1	0	GOLGA6D	73373195	0.998000	0.40836	0.003000	0.11579	0.002000	0.02628	2.506000	0.45433	-0.283000	0.09115	-2.500000	0.00191	GTC	GOLGA6D	-	NULL	ENSG00000140478		0.622	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6D	HGNC	protein_coding	OTTHUMT00000419798.1	-	0	233	0	G	NM_001145224		75586142	1	tier1	-	no_errors	ENST00000434739	ensembl	human	known	74_37	missense	14.09	128	21	SNP	1.000	A	A	75586142	G	A	75586142	3	1	129	1	0	0	0	0	1	0	0	0	6586	1145	40	1	1724	1	GOLGA6D	15	75586142	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	4626015	75586142	26945250	168	33223											
C15orf27	123591	genome.wustl.edu	37	chr15	76449047	76449047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagcctgtgtaatattGgtggtgattctcctgactct	6	16	11	8	0	2	2	0	2	2	0	3	2	2	2	2	3	1	2	2	3	3	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:76449047G>T	ENST00000388942.3	+	4	606	c.330G>T	c.(328-330)ttG>ttT	p.L110F		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	110					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTGTAATATTGGTGGTGATTC	0.438																																																	0													131	131	131					15																	76449047		1947	4150	6097	SO:0001583	missense	0			AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.330G>T	15.37:g.76449047G>T	ENSP00000373594:p.Leu110Phe		Q8N993|Q96LL5	Missense_Mutation	SNP	NULL	p.L110F	ENST00000388942.3	37	c.330	CCDS10289.2	15	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758910	0.69763	.	.	ENSG00000169758	ENST00000388942	D	0.97752	-4.52	5.3	5.3	0.74995	.	0.000000	0.56097	D	0.000023	D	0.98362	0.9456	M	0.76328	2.33	0.48830	D	0.999717	D	0.89917	1.0	D	0.91635	0.999	D	0.98523	1.0624	10	0.54805	T	0.06	-19.238	12.9919	0.58625	0.0:0.0:0.8388:0.1612	.	110	Q2M3C6	CO027_HUMAN	F	110	ENSP00000373594:L110F	ENSP00000373594:L110F	L	+	3	2	C15orf27	74236102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.015000	0.57152	2.490000	0.84030	0.655000	0.94253	TTG	C15orf27	-	NULL	ENSG00000169758		0.438	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C15orf27	HGNC	protein_coding	OTTHUMT00000286637.2	-	0	127	0	G	NM_152335		76449047	1	tier1	-	no_errors	ENST00000388942	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	76449047	G	T	76449047	3	4	129	1	0	0	0	0	1	0	0	0	1793	1339	47	3	340	3	C15orf27	15	76449047	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	862905	76449047	26082345	169	33224											
PTX4	390667	genome.wustl.edu	37	chr16	1536208	1536208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggatctcatagccctccCtgaagcgggagccggtggcc	6	6	16	13	2	1	1	1	1	1	0	3	3	2	3	4	5	3	0	4	5	2	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:1536208C>T	ENST00000447419.2	-	3	1194	c.1169G>A	c.(1168-1170)aGg>aAg	p.R390K	PTX4_ENST00000293922.1_Missense_Mutation_p.R385K|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	390	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						ATAGCCCTCCCTGAAGCGGGA	0.677																																																	0													25	27	27					16																	1536208		2199	4299	6498	SO:0001583	missense	0				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1169G>A	16.37:g.1536208C>T	ENSP00000445277:p.Arg390Lys			Missense_Mutation	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.R390K	ENST00000447419.2	37	c.1169		16	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745982	0.30955	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05319	3.46;3.46	5.45	4.5	0.54988	.	0.080768	0.48286	D	0.000196	T	0.04815	0.0130	L	0.33668	1.02	0.30741	N	0.746208	B	0.24651	0.108	B	0.26864	0.074	T	0.20140	-1.0284	10	0.13108	T	0.6	.	7.3822	0.26862	0.0:0.8198:0.0:0.1802	.	385	Q96A99-2	.	K	390;385	ENSP00000445277:R390K;ENSP00000293922:R385K	ENSP00000293922:R385K	R	-	2	0	PTX4	1476209	1.000000	0.71417	0.992000	0.48379	0.294000	0.27393	1.157000	0.31724	2.569000	0.86673	0.563000	0.77884	AGG	PTX4	-	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	ENSG00000251692		0.677	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	-	0	105	0	C	NM_001013658		1536208	-1	tier1	-	no_errors	ENST00000447419	ensembl	human	known	74_37	missense	34.62	34	18	SNP	0.996	T	T	1536208	C	T	1536208	3	4	129	1	0	0	0	0	1	0	0	0	12868	681	24	3	270	3	PTX4	16	1536208	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09		1536208	88818545	170	33225											
ANKS3	124401	genome.wustl.edu	37	chr16	4749098	4749098	+	Missense_Mutation	SNP	A	A	T	1	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	tctcagtgagggtcagaaagAtgcggaggtccacgtcctgc	9	8	14	10	2	2	3	2	1	1	2	5	4	4	4	2	3	2	0	2	3	1	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:4749098A>T	ENST00000304283.4	-	12	1658	c.1364T>A	c.(1363-1365)aTc>aAc	p.I455N	ANKS3_ENST00000446014.2_Missense_Mutation_p.I326N|ANKS3_ENST00000585773.1_Missense_Mutation_p.I382N	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	455	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGTCAGAAAGATGCGGAGGTC	0.622																																																	0													102	94	97					16																	4749098		2197	4300	6497	SO:0001583	missense	0			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.1364T>A	16.37:g.4749098A>T	ENSP00000304586:p.Ile455Asn		B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.I455N	ENST00000304283.4	37	c.1364	CCDS10520.1	16	.	.	.	.	.	.	.	.	.	.	A	31	5.097224	0.94197	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	D;D	0.85339	-1.97;-1.97	5.65	5.65	0.86999	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.91064	0.7188	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91909	0.5538	10	0.87932	D	0	-5.2719	15.3448	0.74327	1.0:0.0:0.0:0.0	.	455	Q6ZW76	ANKS3_HUMAN	N	455;326	ENSP00000304586:I455N;ENSP00000406796:I326N	ENSP00000304586:I455N	I	-	2	0	ANKS3	4689099	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.861000	0.92277	2.280000	0.76307	0.460000	0.39030	ATC	ANKS3	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000168096		0.622	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS3	HGNC	protein_coding	OTTHUMT00000251642.3	-	0	59	0	A	NM_133450		4749098	-1	tier1	-	no_errors	ENST00000304283	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	4749098	A	T	4749098	3	4	129	1	0	0	0	0	1	0	0	0	690	333	12	5	630	5	ANKS3	16	4749098	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	3212890	4749098	85605655	171	33226											
NOMO2	283820	genome.wustl.edu	37	chr16	18549919	18549919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaccgtttcaaagtagagGtgctctttctgagcatggat	9	13	12	7	1	3	3	1	2	2	1	3	4	3	4	1	2	2	4	1	2	2	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:18549919G>A	ENST00000381474.3	-	11	1214	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	NOMO2_ENST00000330537.6_Silent_p.H383H|NOMO2_ENST00000543392.1_Silent_p.H216H	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	383						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CAAAGTAGAGGTGCTCTTTCT	0.443																																																	0													84	60	68					16																	18549919		1577	3256	4833	SO:0001819	synonymous_variant	0			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1149C>T	16.37:g.18549919G>A			Q4G177	Silent	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.H383	ENST00000381474.3	37	c.1149	CCDS32394.1	16																																																																																			NOMO2	-	pfam_DUF2012,superfamily_Carb-bd-like_fold	ENSG00000185164		0.443	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1	-	0	156	0	G	NM_001004060		18549919	-1	tier1	-	no_errors	ENST00000381474	ensembl	human	known	74_37	silent	7.59	73	6	SNP	1.000	A	A	18549919	G	A	18549919	2	1	129	1	0	0	0	0	0	0	0	1	10571	1252	44	3		3	NOMO2	16	18549919	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	13800821	18549919	71804834	172	33227											
GP2	2813	genome.wustl.edu	37	chr16	20326021	20326021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgacaccgggagactgtgCacctgtgaacaagaacagaa	15	5	11	10	1	0	5	0	2	0	3	0	6	0	5	2	1	3	1	2	1	4	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:20326021C>T	ENST00000381362.4	-	11	1589	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	GP2_ENST00000381360.5_Missense_Mutation_p.A358T|GP2_ENST00000341642.5_Missense_Mutation_p.A355T|GP2_ENST00000302555.5_Missense_Mutation_p.A502T	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	505				A -> G (in Ref. 5; BAA07400). {ECO:0000305}.	antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGAGACTGTGCACCTGTGAAC	0.502																																																	0													153	122	133					16																	20326021		2203	4300	6503	SO:0001583	missense	0			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1513G>A	16.37:g.20326021C>T	ENSP00000370767:p.Ala505Thr		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.A505T	ENST00000381362.4	37	c.1513	CCDS42128.1	16	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351691	0.24512	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.90788	-2.73;-2.72;-1.5;-1.52	4.39	-2.88	0.05682	.	.	.	.	.	T	0.81230	0.4779	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.18166	0.001;0.026;0.003;0.001	B;B;B;B	0.12156	0.005;0.007;0.003;0.002	T	0.63598	-0.6601	9	0.14252	T	0.57	-0.5634	3.0954	0.06308	0.3075:0.3186:0.0:0.3739	.	355;483;502;505	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	T	502;505;358;355;483	ENSP00000304044:A502T;ENSP00000370767:A505T;ENSP00000370765:A358T;ENSP00000343861:A355T	ENSP00000304044:A502T	A	-	1	0	GP2	20233522	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.692000	0.05127	-0.265000	0.09352	-0.224000	0.12420	GCA	GP2	-	NULL	ENSG00000169347		0.502	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	HGNC	protein_coding	OTTHUMT00000436920.1		0	117	0	C	NM_016295		20326021	-1			no_errors	ENST00000381362	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.002	T	T	20326021	C	T	20326021	3	4	129	1	0	0	0	0	1	0	0	0	6608	710	25	3	108	3	GP2	16	20326021	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	1776102	20326021	70028732	173	33228											
ACSM5	54988	genome.wustl.edu	37	chr16	20432632	20432632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaagagtcgagacccgctgGccatctactttaccagcgga	11	7	10	13	3	1	2	0	0	1	2	2	4	1	3	3	2	3	1	3	2	3	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:20432632G>T	ENST00000331849.4	+	5	823	c.676G>T	c.(676-678)Gcc>Tcc	p.A226S		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	226					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						AGACCCGCTGGCCATCTACTT	0.547																																																	0													56	54	55					16																	20432632		2203	4300	6503	SO:0001583	missense	0				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.676G>T	16.37:g.20432632G>T	ENSP00000327916:p.Ala226Ser		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A226S	ENST00000331849.4	37	c.676	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	G	9.967	1.224323	0.22457	.	.	ENSG00000183549	ENST00000331849	T	0.42131	0.98	4.43	1.1	0.20463	AMP-dependent synthetase/ligase (1);	0.631802	0.14744	N	0.300998	T	0.33876	0.0878	L	0.50333	1.59	0.09310	N	0.999998	B	0.15719	0.014	B	0.28305	0.088	T	0.36792	-0.9733	10	0.56958	D	0.05	-7.2042	3.2184	0.06707	0.0864:0.1454:0.324:0.4443	.	226	Q6NUN0	ACSM5_HUMAN	S	226	ENSP00000327916:A226S	ENSP00000327916:A226S	A	+	1	0	ACSM5	20340133	0.000000	0.05858	0.757000	0.31301	0.229000	0.25112	-1.352000	0.02619	0.142000	0.18901	0.655000	0.94253	GCC	ACSM5	-	pfam_AMP-dep_Synth/Lig	ENSG00000183549		0.547	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1		0	72	0	G	NM_017888		20432632	1			no_errors	ENST00000331849	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.195	T	T	20432632	G	T	20432632	3	4	129	1	0	0	0	0	1	0	0	0	187	1203	42	3	690	3	ACSM5	16	20432632	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	106611	20432632	69922121	174	33229											
EEF2K	29904	genome.wustl.edu	37	chr16	22262558	22262558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacatcgagcccgtagaccGggatgtgtactttgaggacg	9	9	13	10	4	0	2	0	1	0	1	1	5	0	4	2	2	3	2	2	2	3	4	rs191986675	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:22262558G>T	ENST00000263026.5	+	6	1007	c.533G>T	c.(532-534)cGg>cTg	p.R178L		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	178	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CCCGTAGACCGGGATGTGTAC	0.602																																					NSCLC(195;1411 2157 20319 27471 51856)												0													105	93	97					16																	22262558		2197	4300	6497	SO:0001583	missense	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.533G>T	16.37:g.22262558G>T	ENSP00000263026:p.Arg178Leu		Q8N588	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.R178L	ENST00000263026.5	37	c.533	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740596	0.89573	.	.	ENSG00000103319	ENST00000263026	T	0.14893	2.47	5.43	5.43	0.79202	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	M	0.62016	1.91	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.10382	-1.0632	10	0.49607	T	0.09	-20.9296	19.2541	0.93938	0.0:0.0:1.0:0.0	.	178	O00418	EF2K_HUMAN	L	178	ENSP00000263026:R178L	ENSP00000263026:R178L	R	+	2	0	EEF2K	22170059	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	9.605000	0.98321	2.565000	0.86533	0.462000	0.41574	CGG	EEF2K	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000103319		0.602	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2		0	77	0	G	NM_013302		22262558	1			no_errors	ENST00000263026	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	22262558	G	T	22262558	3	4	129	1	0	0	0	0	1	0	0	0	4944	1116	39	2	551	2	EEF2K	16	22262558	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	1829926	22262558	68092195	175	33230											
NFATC2IP	84901	genome.wustl.edu	37	chr16	28975131	28975131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagctttcaggcagggagCtgccagctgacctgggcatg	9	7	14	11	0	1	1	1	1	0	0	1	2	1	2	2	3	4	5	2	3	1	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:28975131C>T	ENST00000320805.4	+	8	1282	c.1207C>T	c.(1207-1209)Ctg>Ttg	p.L403L	NFATC2IP_ENST00000564978.1_Silent_p.L124L|NFATC2IP_ENST00000568148.1_Silent_p.L111L|RP11-264B17.2_ENST00000569974.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	403	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						AGGCAGGGAGCTGCCAGCTGA	0.582																																																	0													63	60	61					16																	28975131		2197	4300	6497	SO:0001819	synonymous_variant	0			AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.1207C>T	16.37:g.28975131C>T			B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Silent	SNP	pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.L403	ENST00000320805.4	37	c.1207	CCDS10645.1	16																																																																																			NFATC2IP	-	pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	ENSG00000176953		0.582	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC2IP	HGNC	protein_coding	OTTHUMT00000214999.2	-	0	77	0	C	NM_032815		28975131	1	tier1	-	no_errors	ENST00000320805	ensembl	human	known	74_37	silent	14.81	23	4	SNP	1.000	T	T	28975131	C	T	28975131	2	4	129	1	0	0	0	0	0	0	0	1	10402	796	28	3		3	NFATC2IP	16	28975131	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	6712573	28975131	61379622	176	33231											
PRSS36	146547	genome.wustl.edu	37	chr16	31151942	31151942	+	Frame_Shift_Del	DEL	G	G	-																															gctcagctccaggagggccaGggggggcctgagtcccaggt																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:31151942delG	ENST00000268281.4	-	13	2096	c.2038delC	c.(2038-2040)ctgfs	p.L680fs	PRSS36_ENST00000569305.1_Frame_Shift_Del_p.L675fs|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	680	Peptidase S1 3. {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						AGGAGGGCCAGGGGGGGCCTG	0.726																																																	0													15	20	19					16																	31151942		2194	4288	6482	SO:0001589	frameshift_variant	0			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.2038delC	16.37:g.31151942delG	ENSP00000268281:p.Leu680fs		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Frame_Shift_Del	DEL	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.L680fs	ENST00000268281.4	37	c.2038	CCDS32436.1	16																																																																																			PRSS36	-	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178226		0.726	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1		0	52	0	G	NM_173502		31151942	-1	tier1		no_errors	ENST00000268281	ensembl	human	known	74_37	frame_shift_del	8.33	33	3	DEL	0.448	-	-	31151942	G	-	31151942	7	5	129	1	0	1	0	1	0	0	0	0	12667	991	35	0	541	0	PRSS36	16	31151942	Frame_Shift_Del	DEL	G	TCGA-LN-A8HZ-01A-11D-A36J-09	2176811	31151942	59202811	177	33232											
CDH11	1009	genome.wustl.edu	37	chr16	65038654	65038654	+	Missense_Mutation	SNP	T	T	C	0	1	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	cctgcccctccttgcccttcTcatggtgcccatggaaggag	5	10	10	16	0	1	0	1	0	1	0	3	2	2	2	6	3	3	0	6	3	1	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:65038654T>C	ENST00000268603.4	-	3	734	c.119A>G	c.(118-120)gAg>gGg	p.E40G	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000394156.3_Missense_Mutation_p.E40G	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	40					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)		CTTGCCCTTCTCATGGTGCCC	0.647			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													40	34	36					16																	65038654		2202	4300	6502	SO:0001583	missense	0			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.119A>G	16.37:g.65038654T>C	ENSP00000268603:p.Glu40Gly		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E40G	ENST00000268603.4	37	c.119	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412244	0.62511	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.56941	0.43;0.43	5.74	5.74	0.90152	.	0.168138	0.52532	D	0.000063	T	0.47040	0.1424	L	0.29908	0.895	0.80722	D	1	P;B	0.47910	0.902;0.349	P;B	0.46543	0.52;0.05	T	0.34378	-0.9831	10	0.23302	T	0.38	.	15.211	0.73225	0.0:0.0:0.0:1.0	.	40;40	P55287-2;P55287	.;CAD11_HUMAN	G	40	ENSP00000268603:E40G;ENSP00000377711:E40G	ENSP00000268603:E40G	E	-	2	0	CDH11	63596155	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	4.372000	0.59530	2.198000	0.70561	0.482000	0.46254	GAG	CDH11	-	NULL	ENSG00000140937		0.647	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	71	0	T	NM_033664		65038654	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	15.62	27	5	SNP	1.000	C	C	65038654	T	C	65038654	3	2	129	1	0	0	0	0	1	0	0	0	3104	1551	54	4	2315	4	CDH11	16	65038654	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	33886712	65038654	25316099	178	33233											
ZFHX3	463	genome.wustl.edu	37	chr16	72831852	72831852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accggttgctgattcttgaaGggctctctttaacttatgca	8	15	9	9	1	2	2	0	2	2	0	3	2	2	2	1	2	3	4	1	2	3	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:72831852G>A	ENST00000268489.5	-	9	5401	c.4729C>T	c.(4729-4731)Ctt>Ttt	p.L1577F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L663F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1577					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)				GATTCTTGAAGGGCTCTCTTT	0.463																																																	0													60	60	60					16																	72831852		2198	4300	6498	SO:0001583	missense	0			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.4729C>T	16.37:g.72831852G>A	ENSP00000268489:p.Leu1577Phe		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L1577F	ENST00000268489.5	37	c.4729	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684176	0.47991	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.72615	-0.67;-0.58	5.78	5.78	0.91487	.	0.000000	0.44688	D	0.000431	T	0.78892	0.4355	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	D	0.63957	0.92	T	0.78342	-0.2241	10	0.52906	T	0.07	.	13.5635	0.61804	0.0711:0.0:0.9289:0.0	.	1577	Q15911	ZFHX3_HUMAN	F	1577;663	ENSP00000268489:L1577F;ENSP00000438926:L663F	ENSP00000268489:L1577F	L	-	1	0	ZFHX3	71389353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.777000	0.75028	2.894000	0.99253	0.655000	0.94253	CTT	ZFHX3	-	NULL	ENSG00000140836		0.463	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0	95	0	G	NM_006885		72831852	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	36.73	31	18	SNP	1.000	A	A	72831852	G	A	72831852	3	1	129	1	0	0	0	0	1	0	0	0	17682	1000	35	3	6390	3	ZFHX3	16	72831852	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	7793198	72831852	17522901	179	33234											
WDR59	79726	genome.wustl.edu	37	chr16	74990506	74990506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacgatgtataagaatctgCggctagagaccaacatcaac	15	8	9	9	2	2	3	1	1	1	2	2	5	2	3	1	1	3	2	1	1	6	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:74990506C>T	ENST00000262144.6	-	3	237	c.107G>A	c.(106-108)cGc>cAc	p.R36H	WDR59_ENST00000562331.1_5'UTR	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	36										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TAAGAATCTGCGGCTAGAGAC	0.403																																																	0													84	79	80					16																	74990506		2198	4300	6498	SO:0001583	missense	0			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.107G>A	16.37:g.74990506C>T	ENSP00000262144:p.Arg36His		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R36H	ENST00000262144.6	37	c.107	CCDS32488.1	16	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731175	0.89390	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.70631	-0.5	6.17	6.17	0.99709	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86205	0.5877	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.85824	0.1387	10	0.66056	D	0.02	-22.4462	20.8794	0.99867	0.0:1.0:0.0:0.0	.	36;36	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	H	36;15	ENSP00000262144:R36H	ENSP00000262144:R36H	R	-	2	0	WDR59	73548007	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	7.016000	0.76393	2.941000	0.99782	0.655000	0.94253	CGC	WDR59	-	superfamily_WD40_repeat_dom	ENSG00000103091		0.403	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3		0	61	0	C	NM_030581		74990506	-1			no_errors	ENST00000262144	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	74990506	C	T	74990506	3	4	129	1	0	0	0	0	1	0	0	0	17357	768	27	1	2913	1	WDR59	16	74990506	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	2158654	74990506	15364247	180	33235											
KARS	3735	genome.wustl.edu	37	chr16	75665431	75665431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatcgtaggcttggccctCtgggccatctgggtggtagg	6	10	15	10	1	2	0	0	0	2	0	3	0	2	0	2	6	1	3	2	6	3	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:75665431C>T	ENST00000302445.3	-	9	1174	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	KARS_ENST00000319410.5_Missense_Mutation_p.E407K|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	379					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)	GCTTGGCCCTCTGGGCCATCT	0.522																																																	0													100	102	101					16																	75665431		2198	4300	6498	SO:0001583	missense	0			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.1135G>A	16.37:g.75665431C>T	ENSP00000303043:p.Glu379Lys		A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II	p.E407K	ENST00000302445.3	37	c.1219	CCDS10923.1	16	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690768	0.68271	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.79554	-1.28;-1.28	5.91	4.95	0.65309	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.043652	0.85682	D	0.000000	T	0.81851	0.4910	M	0.76838	2.35	0.80722	D	1	P;P	0.40250	0.709;0.645	B;B	0.40038	0.207;0.317	T	0.82182	-0.0584	10	0.40728	T	0.16	-9.7055	15.8052	0.78501	0.0:0.8636:0.1364:0.0	.	407;379	Q15046-2;Q15046	.;SYK_HUMAN	K	407;379	ENSP00000325448:E407K;ENSP00000303043:E379K	ENSP00000303043:E379K	E	-	1	0	KARS	74222932	1.000000	0.71417	0.966000	0.40874	0.880000	0.50808	6.070000	0.71220	1.478000	0.48253	0.655000	0.94253	GAG	KARS	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Lys-tRNA-ligase_II	ENSG00000065427		0.522	KARS-001	KNOWN	basic|CCDS	protein_coding	KARS	HGNC	protein_coding	OTTHUMT00000269023.1		0	39	0	C	NM_005548		75665431	-1			no_errors	ENST00000319410	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T	T	75665431	C	T	75665431	3	4	129	1	0	0	0	0	1	0	0	0	8007	922	32	3	682	3	KARS	16	75665431	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	674925	75665431	14689322	181	33236											
JPH3	57338	genome.wustl.edu	37	chr16	87717865	87717865	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccccttccttccagcaccgGgaaaacggtgagtctcgccg	7	8	10	16	4	1	1	0	1	1	0	5	2	4	2	6	2	2	1	6	2	2	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:87717865G>C	ENST00000284262.2	+	3	1520	c.1278G>C	c.(1276-1278)cgG>cgC	p.R426R	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	426					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TCCAGCACCGGGAAAACGGTG	0.642																																																	0													71	58	62					16																	87717865		2198	4300	6498	SO:0001819	synonymous_variant	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1278G>C	16.37:g.87717865G>C			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.R426	ENST00000284262.2	37	c.1278	CCDS10962.1	16																																																																																			JPH3	-	pirsf_Junctophilin	ENSG00000154118		0.642	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2		0	98	0	G			87717865	1			no_errors	ENST00000284262	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.998	C	C	87717865	G	C	87717865	2	2	129	1	0	0	0	0	0	0	0	1	7989	1219	43	5		5	JPH3	16	87717865	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	12052434	87717865	2636888	182	33237											
VPS53	55275	genome.wustl.edu	37	chr17	526849	526849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttagttgttctttgaataGcaaaaagaagcaatttcact	15	14	7	5	0	2	2	1	1	1	1	2	2	2	2	0	0	2	5	0	0	7	6			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:526849G>A	ENST00000571805.1	-	11	1176	c.1040C>T	c.(1039-1041)gCt>gTt	p.A347V	VPS53_ENST00000446250.2_Missense_Mutation_p.A149V|VPS53_ENST00000291074.5_Missense_Mutation_p.A318V|VPS53_ENST00000437048.2_Missense_Mutation_p.A347V|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	347					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)		TCTTTGAATAGCAAAAAGAAG	0.443																																																	0													96	89	91					17																	526849		2203	4300	6503	SO:0001583	missense	0				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.1040C>T	17.37:g.526849G>A	ENSP00000459312:p.Ala347Val		A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.A347V	ENST00000571805.1	37	c.1040		17	.	.	.	.	.	.	.	.	.	.	G	35	5.523351	0.96431	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000389040	T;T;T;T	0.38240	1.15;1.15;1.15;1.18	5.7	5.7	0.88788	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.998	D;D;D;D	0.73380	0.956;0.967;0.98;0.967	T	0.69312	-0.5178	10	0.87932	D	0	-15.5884	18.8293	0.92132	0.0:0.0:1.0:0.0	.	347;149;347;318	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	V	347;149;318;299	ENSP00000401435:A347V;ENSP00000394386:A149V;ENSP00000291074:A318V;ENSP00000373692:A299V	ENSP00000291074:A318V	A	-	2	0	VPS53	473599	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.683000	0.91414	0.655000	0.94253	GCT	VPS53	-	pfam_Vps53_N	ENSG00000141252		0.443	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	-	0	121	0	G	NM_018289		526849	-1	tier1	-	no_errors	ENST00000437048	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	526849	G	A	526849	3	1	129	1	0	0	0	0	1	0	0	0	17264	971	34	3	1521	3	VPS53	17	526849	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09		526849	80668361	183	33238											
WDR81	124997	genome.wustl.edu	37	chr17	1640737	1640737	+	Missense_Mutation	SNP	A	A	G	1	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	aggagctggagcagaagcccAcccatcactacaagtcagca	14	4	10	13	0	2	1	2	0	0	1	2	3	2	3	2	2	5	3	2	2	3	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:1640737A>G	ENST00000409644.1	+	10	5584	c.5584A>G	c.(5584-5586)Acc>Gcc	p.T1862A	WDR81_ENST00000309182.5_Missense_Mutation_p.T811A|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.T659A|WDR81_ENST00000419248.1_Missense_Mutation_p.T635A|WDR81_ENST00000446363.1_Missense_Mutation_p.T501A|WDR81_ENST00000545662.1_Missense_Mutation_p.T493A	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1862					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)		GCAGAAGCCCACCCATCACTA	0.612																																																	0													218	134	162					17																	1640737		2202	4300	6502	SO:0001583	missense	0			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.5584A>G	17.37:g.1640737A>G	ENSP00000386609:p.Thr1862Ala		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1862A	ENST00000409644.1	37	c.5584	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	A	8.919	0.960514	0.18583	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T	0.01304	5.03;5.03;5.03;5.03;5.03;5.03	5.1	4.02	0.46733	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.449943	0.17866	U	0.159374	T	0.00637	0.0021	N	0.03608	-0.345	0.23991	N	0.996243	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.50101	-0.8867	10	0.10377	T	0.69	.	0.4	0.00424	0.402:0.1566:0.1472:0.2941	.	493;659;811	B7Z6V3;B7Z579;Q562E7	.;.;WDR81_HUMAN	A	659;811;501;635;1862;613;493	ENSP00000391074:T659A;ENSP00000312074:T811A;ENSP00000401560:T501A;ENSP00000407845:T635A;ENSP00000386609:T1862A;ENSP00000442726:T493A	ENSP00000312074:T811A	T	+	1	0	WDR81	1587487	0.932000	0.31603	0.960000	0.40013	0.876000	0.50452	2.342000	0.43992	1.913000	0.55393	0.528000	0.53228	ACC	WDR81	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000167716		0.612	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	-	0	47	0	A	NM_152348		1640737	1	tier1	-	no_errors	ENST00000409644	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.746	G	G	1640737	A	G	1640737	3	3	129	1	0	0	0	0	1	0	0	0	17379	159	6	4	5684	4	WDR81	17	1640737	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	1113888	1640737	79554473	184	33239											
OVCA2	124641	genome.wustl.edu	37	chr17	1946158	1946158	+	Silent	SNP	G	G	T	0	0	1	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	ccacggtttatcctcttggtGtctggtttctgtccccgggg	2	15	12	12	2	3	0	0	0	3	0	5	0	5	0	4	5	0	2	4	5	1	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:1946158G>T	ENST00000572195.1	+	2	459	c.444G>T	c.(442-444)gtG>gtT	p.V148V	RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000570477.1_3'UTR|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	148					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										TCCTCTTGGTGTCTGGTTTCT	0.572											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													101	96	98					17																	1946158		2203	4300	6503	SO:0001819	synonymous_variant	0			AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664			24203	protein-coding gene	gene with protein product	"candidate tumor suppressor in ovarian cancer 2"	607896				11979432, 8616839, 16368187	Standard	NM_080822		Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.444G>T	17.37:g.1946158G>T		599	Q86XN3|Q8IW87|Q9UCX9	Silent	SNP	pfam_Serine_hydrolase_FSH,pfam_PLipase/COase/thioEstase	p.V148	ENST00000572195.1	37	c.444	CCDS11015.1	17																																																																																			OVCA2	-	pfam_Serine_hydrolase_FSH,pfam_PLipase/COase/thioEstase	ENSG00000262664		0.572	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVCA2	HGNC	protein_coding	OTTHUMT00000255636.5	-	0	123	0	G	NM_080822		1946158	1	tier1	-	no_errors	ENST00000572195	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.005	T	T	1946158	G	T	1946158	2	4	129	1	0	0	0	0	0	0	0	1	11361	1364	48	3		3	OVCA2	17	1946158	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	305421	1946158	79249052	185	33240											
CAMTA2	23125	genome.wustl.edu	37	chr17	4885088	4885088	+	Silent	SNP	T	T	A	0	1	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	tttccacagtcctccagggcTgggacgttcaggtagtgcac	7	10	12	12	1	1	0	1	0	0	0	4	1	4	1	3	3	1	4	3	3	1	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:4885088T>A	ENST00000348066.3	-	7	573	c.450A>T	c.(448-450)ccA>ccT	p.P150P	CAMTA2_ENST00000361571.5_Silent_p.P149P|CAMTA2_ENST00000571831.1_5'UTR|CAMTA2_ENST00000358183.4_Silent_p.P150P|CAMTA2_ENST00000414043.3_Silent_p.P173P|CAMTA2_ENST00000381311.5_Silent_p.P152P|CAMTA2_ENST00000572543.1_Silent_p.P155P	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	150					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						CCTCCAGGGCTGGGACGTTCA	0.587																																																	0													42	37	39					17																	4885088		2203	4300	6503	SO:0001819	synonymous_variant	0			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.450A>T	17.37:g.4885088T>A			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.P173	ENST00000348066.3	37	c.519	CCDS11063.1	17																																																																																			CAMTA2	-	NULL	ENSG00000108509		0.587	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	-	0	40	0	T	NM_015099		4885088	-1	tier1	-	no_errors	ENST00000414043	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.990	A	A	4885088	T	A	4885088	2	1	129	1	0	0	0	0	0	0	0	1	2621	1567	55	5		5	CAMTA2	17	4885088	Silent	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	2938930	4885088	76310122	186	33241											
TP53	7157	genome.wustl.edu	37	chr17	7574035	7574035	+	Splice_Site	SNP	T	T	G	0	1	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	agcgctcacgcccacggatcTgcagcaacagaggaggggga	11	3	15	12	3	2	1	1	0	1	1	2	4	2	4	1	4	4	3	1	4	1	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:7574035T>G	ENST00000269305.4	-	10	1183		c.e10-2		TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_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.?(10)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(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)	CCCACGGATCTGCAGCAACAG	0.507		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"	19	Unknown(10)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(2)|liver(2)|stomach(1)|breast(1)											44	36	38					17																	7574035		2203	4300	6503	SO:0001630	splice_region_variant	0	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.994-2A>C	17.37:g.7574035T>G			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	-	e9-2	ENST00000269305.4	37	c.994-2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904238	0.33628	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1784	0.59641	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514760	1.000000	0.71417	0.937000	0.37676	0.131000	0.20780	6.590000	0.74085	2.061000	0.61500	0.459000	0.35465	.	TP53	-	-	ENSG00000141510		0.507	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	36	0	T	NM_000546	Intron	7574035	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	72.73	3	8	SNP	1.000	G	G	7574035	T	G	7574035	5	3	129	1	0	0	0	0	0	0	1	0	16429	1594	55	4	197	4	TP53	17	7574035	Splice_Site	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	2688947	7574035	73621175	187	33242											
CYB5D1	124637	genome.wustl.edu	37	chr17	7762030	7762031	+	Frame_Shift_Ins	INS	-	-	T																															tgttcggactgggccaacgaINSttttgggaagccctggtggc																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:7762030_7762031insT	ENST00000332439.4	+	3	496_497	c.344_345insT	c.(343-348)gattttfs	p.DF115fs	CYB5D1_ENST00000570446.1_Intron|CYB5D1_ENST00000571846.1_Frame_Shift_Ins_p.DF115fs|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_5'UTR|LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000575208.1_5'Flank|LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000575071.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	115							heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				TGGGCCAACGATTTTGGGAAGC	0.629											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0			AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.348dupT	17.37:g.7762034_7762034dupT	ENSP00000331479:p.Asp115fs	644	D3DTQ8|Q96DM7	Frame_Shift_Ins	INS	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd	p.G117fs	ENST00000332439.4	37	c.344_345	CCDS11123.1	17																																																																																			CYB5D1	-	NULL	ENSG00000182224		0.629	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5D1	HGNC	protein_coding	OTTHUMT00000440841.1		0	93	0	-	NM_144607		7762031	1	tier1		no_errors	ENST00000332439	ensembl	human	known	74_37	frame_shift_ins	10.34	26	3	INS	1.000:1.000	T	T	7762031	-	T	7762030	7	5	129	1	0	1	1	0	0	0	0	0	4133	333	12	0	354	0	CYB5D1	17	7762030	Frame_Shift_Ins	INS	-	TCGA-LN-A8HZ-01A-11D-A36J-09	187995	7762030	73433180	188	33243											
PIK3R5	23533	genome.wustl.edu	37	chr17	8793372	8793372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggcctctgcagcatccccGatgccagatgccagctcctg	6	7	11	17	2	1	1	0	0	1	1	3	2	3	1	6	1	5	3	6	1	0	0	rs200469610	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:8793372G>A	ENST00000447110.1	-	8	853	c.729C>T	c.(727-729)atC>atT	p.I243I	PIK3R5_ENST00000581552.1_Silent_p.I243I|PIK3R5_ENST00000584803.1_Silent_p.I243I	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	243				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	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						CAGCATCCCCGATGCCAGATG	0.622																																					NSCLC(18;589 615 7696 20311 50332)												0													73	70	71					17																	8793372		2203	4300	6503	SO:0001819	synonymous_variant	0			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.729C>T	17.37:g.8793372G>A			B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.S185L	ENST00000447110.1	37	c.554	CCDS11147.1	17																																																																																			PIK3R5	-	NULL	ENSG00000141506		0.622	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIK3R5	HGNC	protein_coding	OTTHUMT00000227003.2	-	0	95	0	G	NM_014308		8793372	-1	tier1	-	no_errors	ENST00000269300	ensembl	human	known	74_37	missense	60.00	16	24	SNP	0.107	A	A	8793372	G	A	8793372	2	1	129	1	0	0	0	0	0	0	0	1	11961	1048	37	1		1	PIK3R5	17	8793372	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	1031342	8793372	72401838	189	33244											
NCOR1	9611	genome.wustl.edu	37	chr17	15950318	15950318	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttacgaaaaatctcctgcTtctttgatttaaccatgggt	11	15	6	9	1	2	1	0	1	2	0	3	2	2	1	2	1	3	1	2	1	4	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:15950318T>A	ENST00000268712.3	-	42	6883	c.6626A>T	c.(6625-6627)aAg>aTg	p.K2209M	NCOR1_ENST00000395851.1_Missense_Mutation_p.K2106M|NCOR1_ENST00000395857.3_Missense_Mutation_p.K793M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2209	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AATCTCCTGCTTCTTTGATTT	0.423																																																	0													140	131	134					17																	15950318		2203	4300	6503	SO:0001583	missense	0			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.6626A>T	17.37:g.15950318T>A	ENSP00000268712:p.Lys2209Met		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K2209M	ENST00000268712.3	37	c.6626	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425295	0.43020	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.72282	-0.64;-0.01;-0.41	5.61	5.61	0.85477	.	0.041107	0.85682	D	0.000000	D	0.82623	0.5077	M	0.67397	2.05	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	0.91635	0.999;0.997;0.996;0.996;0.997;0.987	D	0.84623	0.0685	10	0.87932	D	0	-15.4371	14.971	0.71235	0.0:0.0:0.0:1.0	.	1019;2113;2209;2106;729;223	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;.;NCOR1_HUMAN;.;.;.	M	2209;2106;2113;793	ENSP00000268712:K2209M;ENSP00000379192:K2106M;ENSP00000379198:K793M	ENSP00000268712:K2209M	K	-	2	0	NCOR1	15891043	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.454000	0.80714	2.138000	0.66242	0.454000	0.30748	AAG	NCOR1	-	NULL	ENSG00000141027		0.423	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	-	0	112	0	T	NM_006311		15950318	-1	tier1	-	no_errors	ENST00000268712	ensembl	human	known	74_37	missense	66.67	21	42	SNP	1.000	A	A	15950318	T	A	15950318	3	1	129	1	0	0	0	0	1	0	0	0	10274	1609	56	5	716	5	NCOR1	17	15950318	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	7156946	15950318	65244892	190	33245											
MYO15A	51168	genome.wustl.edu	37	chr17	18058015	18058015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgcacgacacgctctccGaggcctgccttcgcatctct	5	10	8	18	4	2	0	0	0	2	0	6	2	3	0	4	1	2	3	4	1	0	1	rs142465521		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:18058015G>A	ENST00000205890.5	+	45	8508	c.8170G>A	c.(8170-8172)Gag>Aag	p.E2724K	MYO15A_ENST00000585180.1_5'UTR|MYO15A_ENST00000418233.3_5'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2724	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)					CACGCTCTCCGAGGCCTGCCT	0.597																																																	0													68	74	72					17																	18058015		2061	4212	6273	SO:0001583	missense	0			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.8170G>A	17.37:g.18058015G>A	ENSP00000205890:p.Glu2724Lys		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.E2724K	ENST00000205890.5	37	c.8170	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208687	0.79240	.	.	ENSG00000091536	ENST00000205890	D	0.88586	-2.4	5.34	5.34	0.76211	.	.	.	.	.	D	0.89230	0.6656	M	0.73372	2.23	0.80722	D	1	D	0.52996	0.957	B	0.43155	0.41	D	0.88339	0.2973	9	0.31617	T	0.26	.	19.3859	0.94556	0.0:0.0:1.0:0.0	.	2724	Q9UKN7	MYO15_HUMAN	K	2724	ENSP00000205890:E2724K	ENSP00000205890:E2724K	E	+	1	0	MYO15A	17998740	1.000000	0.71417	0.863000	0.33907	0.556000	0.35491	6.032000	0.70918	2.641000	0.89580	0.655000	0.94253	GAG	MYO15A	-	NULL	ENSG00000091536		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1		0	27	0	G	NM_016239		18058015	1			no_errors	ENST00000205890	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	A	A	18058015	G	A	18058015	3	1	129	1	0	0	0	0	1	0	0	0	10101	1059	37	1	8340	1	MYO15A	17	18058015	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	2107697	18058015	63137195	191	33246											
KRTAP4-9	100132386	genome.wustl.edu	37	chr17	39261661	39261661	+	Silent	SNP	C	C	G	0	0	0	1	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	atggtcagctcctgttgtggCtccgtgtgctctgaccaggg	4	12	14	11	1	2	1	1	1	1	0	4	1	4	1	3	3	2	4	3	3	0	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:39261661C>G	ENST00000391415.1	+	1	78	c.21C>G	c.(19-21)ggC>ggG	p.G7G		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	7					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						CCTGTTGTGGCTCCGTGTGCT	0.612																																																	0													13	16	15					17																	39261661		692	1586	2278	SO:0001819	synonymous_variant	0			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.21C>G	17.37:g.39261661C>G				Silent	SNP	pfam_Keratin-assoc	p.G7	ENST00000391415.1	37	c.21	CCDS54124.1	17																																																																																			KRTAP4-9	-	pfam_Keratin-assoc	ENSG00000212722		0.612	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-9	HGNC	protein_coding	OTTHUMT00000257688.1	-	0	366	0	C	NM_001146041		39261661	1	tier1	-	no_errors	ENST00000391415	ensembl	human	known	74_37	silent	44.77	132	107	SNP	0.972	G	G	39261661	C	G	39261661	2	3	129	1	0	0	0	0	0	0	0	1	8585	784	28	5		5	KRTAP4-9	17	39261661	Silent	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	21203646	39261661	41933549	192	33247											
DLX4	1748	genome.wustl.edu	37	chr17	48050491	48050491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagcggcgccctcaggcccCcgccaaaaagctccgcaagc	9	2	11	19	5	1	0	1	0	0	0	2	1	2	0	5	2	3	2	5	2	3	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:48050491C>A	ENST00000240306.3	+	2	633	c.338C>A	c.(337-339)cCc>cAc	p.P113H	DLX4_ENST00000411890.2_Missense_Mutation_p.P41H|DLX4_ENST00000503410.1_3'UTR	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	113				P -> A (in Ref. 1; AAC50942). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CCTCAGGCCCCCGCCAAAAAG	0.677																																																	0													27	33	31					17																	48050491		2202	4298	6500	SO:0001583	missense	0				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.338C>A	17.37:g.48050491C>A	ENSP00000240306:p.Pro113His		D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.P113H	ENST00000240306.3	37	c.338	CCDS11555.1	17	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867310	0.51588	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	D;D	0.95724	-3.76;-3.79	4.86	0.851	0.18989	Homeodomain-related (1);Homeodomain-like (1);	.	.	.	.	D	0.89677	0.6784	N	0.25380	0.74	0.09310	N	1	P;B	0.45827	0.867;0.41	B;B	0.41946	0.371;0.204	T	0.83142	-0.0108	9	0.87932	D	0	-8.7541	3.6067	0.08045	0.0:0.5089:0.1978:0.2933	.	41;113	Q92988-2;Q92988	.;DLX4_HUMAN	H	113;41	ENSP00000240306:P113H;ENSP00000410622:P41H	ENSP00000240306:P113H	P	+	2	0	DLX4	45405490	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.275000	0.18698	0.338000	0.23692	0.655000	0.94253	CCC	DLX4	-	superfamily_Homeodomain-like	ENSG00000108813		0.677	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1	-	0	136	0	C			48050491	1	tier1	-	no_errors	ENST00000240306	ensembl	human	known	74_37	missense	36.71	50	29	SNP	0.000	A	A	48050491	C	A	48050491	3	1	129	1	0	0	0	0	1	0	0	0	4587	623	22	3	411	3	DLX4	17	48050491	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	8788830	48050491	33144719	193	33248											
C17orf71	55181	genome.wustl.edu	37	chr17	57289730	57289730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggctgatagaaatccGcctgtgctatatcacaatag	13	9	9	10	1	1	3	1	1	0	2	2	3	2	3	3	1	1	2	3	1	6	4	rs143473864	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:57289730G>A	ENST00000543872.2	+	3	2052	c.1788G>A	c.(1786-1788)ccG>ccA	p.P596P	SMG8_ENST00000300917.5_Silent_p.P596P|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	596					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						ATAGAAATCCGCCTGTGCTAT	0.413																																																	0													95	106	102					17																	57289730		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1788G>A	17.37:g.57289730G>A			Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	pfam_Smg8/Smg9	p.P596	ENST00000543872.2	37	c.1788	CCDS11615.1	17																																																																																			SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.413	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	-	0	125	0	G	NM_018149		57289730	1	tier1	-	no_errors	ENST00000300917	ensembl	human	known	74_37	silent	15.32	103	19	SNP	0.718	A	A	57289730	G	A	57289730	2	1	129	1	0	0	0	0	0	0	0	1	1884	1074	38	1		1	C17orf71	17	57289730	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	9239239	57289730	23905480	194	33249											
SMURF2	64750	genome.wustl.edu	37	chr17	62543830	62543830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagctttccagaaccatttGacaatgttgctgtctggtgt	9	14	9	9	0	1	2	0	1	1	1	2	2	2	2	2	1	3	3	2	1	2	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:62543830G>A	ENST00000262435.9	-	17	2146	c.1959C>T	c.(1957-1959)gtC>gtT	p.V653V		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	653	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)			AGAACCATTTGACAATGTTGC	0.433																																																	0													151	144	146					17																	62543830		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1959C>T	17.37:g.62543830G>A			Q52LL1|Q9H260	Silent	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.V653	ENST00000262435.9	37	c.1959	CCDS32707.1	17																																																																																			SMURF2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000108854		0.433	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	HGNC	protein_coding	OTTHUMT00000445227.1	-	0	119	0	G	NM_022739		62543830	-1	tier1	-	no_errors	ENST00000262435	ensembl	human	known	74_37	silent	44.33	53	43	SNP	1.000	A	A	62543830	G	A	62543830	2	1	129	1	0	0	0	0	0	0	0	1	14865	1277	45	3		3	SMURF2	17	62543830	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	5254100	62543830	18651380	195	33250											
DNAI2	64446	genome.wustl.edu	37	chr17	72278122	72278122	+	Missense_Mutation	SNP	A	A	G	1	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	cgggcatccagtgctcgatcAgcatgtcggaacacgaggtg	9	7	14	11	4	1	0	1	0	0	0	4	3	2	1	1	3	3	3	1	3	1	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:72278122A>G	ENST00000311014.6	+	2	233	c.166A>G	c.(166-168)Agc>Ggc	p.S56G	DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Missense_Mutation_p.S56G|DNAI2_ENST00000579490.1_Missense_Mutation_p.S113G|DNAI2_ENST00000446837.2_Missense_Mutation_p.S56G			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	56					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						GTGCTCGATCAGCATGTCGGA	0.672									Kartagener syndrome																																								0													102	90	94					17																	72278122		2203	4300	6503	SO:0001583	missense	0	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.166A>G	17.37:g.72278122A>G	ENSP00000308312:p.Ser56Gly		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S56G	ENST00000311014.6	37	c.166	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	A	8.402	0.842195	0.16963	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.15487	2.42;2.42	5.22	4.1	0.47936	.	0.529823	0.21475	N	0.073930	T	0.11324	0.0276	L	0.34521	1.04	0.80722	D	1	B	0.26318	0.146	B	0.26517	0.07	T	0.13522	-1.0506	10	0.37606	T	0.19	-52.0372	4.2215	0.10559	0.6286:0.1887:0.1828:0.0	.	56	Q9GZS0	DNAI2_HUMAN	G	56	ENSP00000308312:S56G;ENSP00000400252:S56G	ENSP00000308312:S56G	S	+	1	0	DNAI2	69789717	0.997000	0.39634	0.954000	0.39281	0.095000	0.18619	3.609000	0.54117	2.205000	0.71048	0.524000	0.50904	AGC	DNAI2	-	NULL	ENSG00000171595		0.672	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	-	0	69	0	A	NM_023036		72278122	1	tier1	-	no_errors	ENST00000311014	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.902	G	G	72278122	A	G	72278122	3	3	129	1	0	0	0	0	1	0	0	0	4624	188	7	4	168	4	DNAI2	17	72278122	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	9734292	72278122	8917088	196	33251											
CELF4	56853	genome.wustl.edu	37	chr18	34850767	34850767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccattggcgaacacagcttCcgcagcaggttgcccattgg	8	8	12	13	2	0	0	0	0	0	0	1	1	1	0	3	3	4	4	3	3	1	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr18:34850767C>T	ENST00000591282.1	-	8	1062	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	CELF4_ENST00000420428.2_Missense_Mutation_p.E355K|CELF4_ENST00000412753.1_Missense_Mutation_p.E354K|CELF4_ENST00000601019.1_Missense_Mutation_p.E353K|CELF4_ENST00000603232.1_Missense_Mutation_p.E354K|CELF4_ENST00000334919.5_Missense_Mutation_p.E345K|CELF4_ENST00000591287.1_Missense_Mutation_p.E354K|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000361795.5_Missense_Mutation_p.E353K|CELF4_ENST00000588597.1_Missense_Mutation_p.E344K			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	355					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AACACAGCTTCCGCAGCAGGT	0.587																																																	0													92	76	82					18																	34850767		2203	4300	6503	SO:0001583	missense	0			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1063G>A	18.37:g.34850767C>T	ENSP00000464794:p.Glu355Lys		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E355K	ENST00000591282.1	37	c.1063	CCDS32818.1	18	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969286	0.92855	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T	0.74421	-0.78;-0.84	4.66	4.66	0.58398	.	0.119542	0.56097	D	0.000026	D	0.84215	0.5423	M	0.80982	2.52	0.58432	D	0.999999	P;P;D;D;P;P	0.61697	0.824;0.859;0.99;0.964;0.725;0.604	P;P;P;P;P;P	0.61592	0.767;0.524;0.79;0.891;0.687;0.489	T	0.82010	-0.0669	10	0.18710	T	0.47	-8.3471	17.7309	0.88377	0.0:1.0:0.0:0.0	.	353;344;80;345;354;355	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;.;CELF4_HUMAN	K	355;354;353;345	ENSP00000406823:E354K;ENSP00000335631:E345K	ENSP00000335631:E345K	E	-	1	0	CELF4	33104765	1.000000	0.71417	0.969000	0.41365	0.956000	0.61745	7.320000	0.79064	2.409000	0.81822	0.557000	0.71058	GAA	CELF4	-	NULL	ENSG00000101489		0.587	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF4	HGNC	protein_coding	OTTHUMT00000440892.1	-	0	84	0	C	NM_020180		34850767	-1	tier1	-	no_errors	ENST00000420428	ensembl	human	known	74_37	missense	30.77	27	12	SNP	1.000	T	T	34850767	C	T	34850767	3	4	129	1	0	0	0	0	1	0	0	0	3225	864	30	3	417	3	CELF4	18	34850767	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09		34850767	43226481	197	33252											
FAM108A1	81926	genome.wustl.edu	37	chr19	1881527	1881527	+	Frame_Shift_Del	DEL	G	G	-																															ccggggcagggcgggcagcaGaagaggcagcagagctcact																								rs377128884		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:1881527delG	ENST00000292577.7	-	2	472	c.39delC	c.(37-39)ttcfs	p.F13fs	ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.F13fs|ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.F13fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.F13delF(1)									GCGGGCAGCAGAAGAGGCAGC	0.756																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)											9	13	11					19																	1881527		2041	4133	6174	SO:0001589	frameshift_variant	0			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.39delC	19.37:g.1881527delG	ENSP00000292577:p.Phe13fs		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	pfam_Dienelactn_hydro	p.C14fs	ENST00000292577.7	37	c.39	CCDS45902.1	19																																																																																			ABHD17A	-	NULL	ENSG00000129968		0.756	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2		0	34	0	G	NM_031213		1881527	-1	tier1		no_errors	ENST00000250974	ensembl	human	known	74_37	frame_shift_del	16.67	20	4	DEL	1.000	-	-	1881527	G	-	1881527	7	5	129	1	0	1	0	1	0	0	0	0	5410	933	33	0	1066	0	FAM108A1	19	1881527	Frame_Shift_Del	DEL	G	TCGA-LN-A8HZ-01A-11D-A36J-09		1881527	57247456	198	33253	120	2									
FAM108A1	81926	genome.wustl.edu	37	chr19	1881529	1881530	+	Frame_Shift_Del	DEL	AG	AG	-																															ggggcagggcgggcagcagaAgaggcagcagagctcactca																										TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:1881529_1881530delAG	ENST00000292577.7	-	2	469_470	c.36_37delCT	c.(34-39)ctcttcfs	p.F13fs	ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.F13fs|ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.F13fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGGCAGCAGAAGAGGCAGCAGA	0.762																																																	0																																										SO:0001589	frameshift_variant	0			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.36_37delCT	19.37:g.1881531_1881532delAG	ENSP00000292577:p.Phe13fs		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	pfam_Dienelactn_hydro	p.F13fs	ENST00000292577.7	37	c.37_36	CCDS45902.1	19																																																																																			ABHD17A	-	NULL	ENSG00000129968		0.762	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2		0	32	0	AG	NM_031213		1881530	-1	tier1		no_errors	ENST00000250974	ensembl	human	known	74_37	frame_shift_del	16.67	20	4	DEL	1.000:0.997	-	-	1881530	AG	-	1881529	7	5	129	1	0	1	0	1	0	0	0	0	5410	72	3	0	1068	0	FAM108A1	19	1881529	Frame_Shift_Del	DEL	AG	TCGA-LN-A8HZ-01A-11D-A36J-09	2	1881529	57247454	199	33254	120	2									
TNFSF9	8744	genome.wustl.edu	37	chr19	6534855	6534855	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggccgccgccctggctttGaccgtggacctgccacccgc	3	6	14	18	4	0	1	0	1	0	0	0	2	0	2	7	4	1	1	7	4	0	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:6534855G>C	ENST00000245817.3	+	3	581	c.543G>C	c.(541-543)ttG>ttC	p.L181F		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	181					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CCCTGGCTTTGACCGTGGACC	0.721																																																	0													16	18	18					19																	6534855		2196	4288	6484	SO:0001583	missense	0			U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.543G>C	19.37:g.6534855G>C	ENSP00000245817:p.Leu181Phe		Q2M3S2	Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	p.L181F	ENST00000245817.3	37	c.543	CCDS12169.1	19	.	.	.	.	.	.	.	.	.	.	g	16.04	3.009214	0.54361	.	.	ENSG00000125657	ENST00000245817	D	0.94650	-3.48	3.69	-0.253	0.12996	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.196266	0.24568	U	0.037408	D	0.94278	0.8162	M	0.66939	2.045	0.09310	N	1	D	0.62365	0.991	P	0.53490	0.727	D	0.89033	0.3443	10	0.66056	D	0.02	-8.5903	10.95	0.47323	0.0:0.5785:0.4215:0.0	.	181	P41273	TNFL9_HUMAN	F	181	ENSP00000245817:L181F	ENSP00000245817:L181F	L	+	3	2	TNFSF9	6485855	0.001000	0.12720	0.012000	0.15200	0.022000	0.10575	0.167000	0.16602	0.325000	0.23359	0.537000	0.68136	TTG	TNFSF9	-	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	ENSG00000125657		0.721	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF9	HGNC	protein_coding	OTTHUMT00000457856.1	-	0	34	0	G	NM_003811		6534855	1	tier1	-	no_errors	ENST00000245817	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.017	C	C	6534855	G	C	6534855	3	2	129	1	0	0	0	0	1	0	0	0	16359	1281	45	5	553	5	TNFSF9	19	6534855	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	4653326	6534855	52594128	200	33255											
VAV1	7409	genome.wustl.edu	37	chr19	6833223	6833223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatccggagaatgccaccGccaacgggcatgacttccag	10	7	10	14	3	1	2	0	1	1	1	3	3	3	2	5	2	2	1	5	2	3	2	rs150058721		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:6833223G>T	ENST00000602142.1	+	16	1619	c.1537G>T	c.(1537-1539)Gcc>Tcc	p.A513S	VAV1_ENST00000596764.1_Missense_Mutation_p.A481S|VAV1_ENST00000539284.1_Missense_Mutation_p.A416S|VAV1_ENST00000599806.1_Missense_Mutation_p.A458S|VAV1_ENST00000304076.2_Missense_Mutation_p.A513S	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	513					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						GAATGCCACCGCCAACGGGCA	0.453																																																	0													54	49	51					19																	6833223		2203	4300	6503	SO:0001583	missense	0				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.1537G>T	19.37:g.6833223G>T	ENSP00000472929:p.Ala513Ser		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.A513S	ENST00000602142.1	37	c.1537	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704695	0.48412	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.75938	0.01;-0.98	4.85	4.85	0.62838	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	L	0.52126	1.63	0.51012	D	0.999902	P;P;B;B	0.47962	0.872;0.903;0.03;0.107	P;P;B;B	0.50082	0.63;0.604;0.052;0.05	T	0.70189	-0.4940	10	0.14656	T	0.56	.	15.4697	0.75432	0.0:0.0:1.0:0.0	.	416;513;458;513	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	S	513;416	ENSP00000302269:A513S;ENSP00000443242:A416S	ENSP00000302269:A513S	A	+	1	0	VAV1	6784223	1.000000	0.71417	0.882000	0.34594	0.556000	0.35491	3.979000	0.56888	2.242000	0.73789	0.650000	0.86243	GCC	VAV1	-	NULL	ENSG00000141968		0.453	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1		0	104	0	G			6833223	1			no_errors	ENST00000602142	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.991	T	T	6833223	G	T	6833223	3	4	129	1	0	0	0	0	1	0	0	0	17180	1087	38	2	1599	2	VAV1	19	6833223	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	298368	6833223	52295760	201	33256											
MUC16	94025	genome.wustl.edu	37	chr19	9067553	9067553	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atggatgtggaaacaatggtGtcccttatgttgaaagaggt	12	12	13	4	0	0	2	0	1	0	1	1	4	1	4	1	4	1	1	1	4	4	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:9067553G>T	ENST00000397910.4	-	3	20096	c.19893C>A	c.(19891-19893)gaC>gaA	p.D6631E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6633	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						AAACAATGGTGTCCCTTATGT	0.493																																																	0													153	144	147					19																	9067553		1983	4171	6154	SO:0001583	missense	0			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.19893C>A	19.37:g.9067553G>T	ENSP00000381008:p.Asp6631Glu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.D6631E	ENST00000397910.4	37	c.19893	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	5.118	0.207478	0.09704	.	.	ENSG00000181143	ENST00000397910	T	0.20738	2.05	2.34	-1.6	0.08426	.	.	.	.	.	T	0.09158	0.0226	N	0.14661	0.345	.	.	.	B	0.27166	0.17	B	0.19391	0.025	T	0.29792	-1.0000	8	0.87932	D	0	.	1.0977	0.01677	0.148:0.2247:0.3983:0.229	.	6631	B5ME49	.	E	6631	ENSP00000381008:D6631E	ENSP00000381008:D6631E	D	-	3	2	MUC16	8928553	0.000000	0.05858	0.000000	0.03702	0.621000	0.37620	-1.135000	0.03225	-0.212000	0.10109	0.154000	0.16183	GAC	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	47	0	G	NM_024690		9067553	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	61.76	13	21	SNP	0.000	T	T	9067553	G	T	9067553	3	4	129	1	0	0	0	0	1	0	0	0	10011	1368	48	3	23958	3	MUC16	19	9067553	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	2234330	9067553	50061430	202	33257											
MUC16	94025	genome.wustl.edu	37	chr19	9082704	9082704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaggaagcttgtttctttCtcagtggataggcttatggg	9	14	13	5	0	2	0	1	0	2	0	3	3	2	2	0	4	1	3	0	4	4	5			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:9082704C>G	ENST00000397910.4	-	1	9314	c.9111G>C	c.(9109-9111)gaG>gaC	p.E3037D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3038	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						TTGTTTCTTTCTCAGTGGATA	0.488																																																	0													110	109	109					19																	9082704		2003	4185	6188	SO:0001583	missense	0			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.9111G>C	19.37:g.9082704C>G	ENSP00000381008:p.Glu3037Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.E3037D	ENST00000397910.4	37	c.9111	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	3.821	-0.037735	0.07497	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	0.773	-0.459	0.12179	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	.	.	.	P	0.45594	0.862	B	0.34722	0.188	T	0.47209	-0.9135	8	0.87932	D	0	.	3.109	0.06351	0.0:0.6396:0.0:0.3604	.	3037	B5ME49	.	D	3037	ENSP00000381008:E3037D	ENSP00000381008:E3037D	E	-	3	2	MUC16	8943704	0.000000	0.05858	0.014000	0.15608	0.269000	0.26545	-0.734000	0.04893	-0.149000	0.11215	0.313000	0.20887	GAG	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	93	0	C	NM_024690		9082704	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.024	G	G	9082704	C	G	9082704	3	3	129	1	0	0	0	0	1	0	0	0	10011	912	32	5	34748	5	MUC16	19	9082704	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	15151	9082704	50046279	203	33258											
SMARCA4	6597	genome.wustl.edu	37	chr19	11100104	11100104	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaaggccctcaggctgctGaacttccagaggcaggtggg	8	7	14	12	0	2	2	2	1	0	1	3	2	3	2	2	5	2	3	2	5	2	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:11100104G>A	ENST00000429416.3	+	8	1511	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	SMARCA4_ENST00000344626.4_Silent_p.L410L|SMARCA4_ENST00000444061.3_Silent_p.L410L|SMARCA4_ENST00000589677.1_Silent_p.L410L|SMARCA4_ENST00000358026.2_Silent_p.L410L|SMARCA4_ENST00000541122.2_Silent_p.L410L|SMARCA4_ENST00000450717.3_Silent_p.L410L|SMARCA4_ENST00000590574.1_Silent_p.L410L|SMARCA4_ENST00000413806.3_Silent_p.L410L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	410					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)				TCAGGCTGCTGAACTTCCAGA	0.582			"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)											71	62	65					19																	11100104		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1230G>A	19.37:g.11100104G>A			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.L410	ENST00000429416.3	37	c.1230	CCDS12253.1	19																																																																																			SMARCA4	-	NULL	ENSG00000127616		0.582	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0	167	0	G	NM_003072		11100104	1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	silent	5.98	110	7	SNP	0.996	A	A	11100104	G	A	11100104	2	1	129	1	0	0	0	0	0	0	0	1	14815	1277	45	3		3	SMARCA4	19	11100104	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	2017400	11100104	48028879	204	33259											
CACNA1A	773	genome.wustl.edu	37	chr19	13470592	13470592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtcccacatggagccGgagactcaccctgaatgtca	9	9	9	14	1	3	2	2	1	1	1	4	4	4	3	3	2	1	0	3	2	1	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:13470592G>T	ENST00000360228.5	-	6	805	c.806C>A	c.(805-807)cCg>cAg	p.P269Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P269Q	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	269					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)	ACATGGAGCCGGAGACTCACC	0.557																																																	0													32	31	31					19																	13470592		1907	4089	5996	SO:0001583	missense	0			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.806C>A	19.37:g.13470592G>T	ENSP00000353362:p.Pro269Gln		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.P269Q	ENST00000360228.5	37	c.806	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413079	0.42817	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96554	-4.05	5.27	3.03	0.35002	Ion transport (1);	0.154543	0.44285	D	0.000471	D	0.96790	0.8952	M	0.72576	2.205	0.26164	N	0.979959	P;D	0.89917	0.666;1.0	B;D	0.87578	0.388;0.998	D	0.90603	0.4546	10	0.32370	T	0.25	.	5.8948	0.18933	0.0959:0.0:0.7152:0.1889	.	269;269	O00555;Q9NS88	CAC1A_HUMAN;.	Q	269	ENSP00000353362:P269Q	ENSP00000317661:P269Q	P	-	2	0	CACNA1A	13331592	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.722000	0.61958	1.229000	0.43630	-0.136000	0.14681	CCG	CACNA1A	-	pfam_Ion_trans_dom	ENSG00000141837		0.557	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0	81	0	G	NM_000068		13470592	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.971	T	T	13470592	G	T	13470592	3	4	129	1	0	0	0	0	1	0	0	0	2545	1116	39	2	6996	2	CACNA1A	19	13470592	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	2370488	13470592	45658391	205	33260											
MAST3	23031	genome.wustl.edu	37	chr19	18255452	18255452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggcggcagtgggggcCgcgtgcccaagtcagcctct	4	7	18	12	3	2	0	1	0	1	0	2	0	2	0	3	5	2	1	3	5	1	0			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:18255452C>T	ENST00000262811.6	+	22	2674	c.2674C>T	c.(2674-2676)Cgc>Tgc	p.R892C	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	892	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R914C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CAGTGGGGGCCGCGTGCCCAA	0.667																																																	1	Substitution - Missense(1)	large_intestine(1)											33	43	40					19																	18255452		2139	4236	6375	SO:0001583	missense	0			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.2674C>T	19.37:g.18255452C>T	ENSP00000262811:p.Arg892Cys		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R892C	ENST00000262811.6	37	c.2674	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137448	0.37728	.	.	ENSG00000099308	ENST00000262811	T	0.68624	-0.34	4.79	2.58	0.30949	.	0.073816	0.53938	D	0.000049	T	0.58163	0.2103	L	0.54323	1.7	0.45403	D	0.998387	B	0.14805	0.011	B	0.06405	0.002	T	0.55379	-0.8150	10	0.87932	D	0	-4.9439	8.4466	0.32845	0.1533:0.7646:0.0:0.0821	.	892	O60307	MAST3_HUMAN	C	892	ENSP00000262811:R892C	ENSP00000262811:R892C	R	+	1	0	MAST3	18116452	0.998000	0.40836	0.890000	0.34922	0.603000	0.37013	1.270000	0.33086	0.412000	0.25729	0.491000	0.48974	CGC	MAST3	-	NULL	ENSG00000099308		0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2		0	69	0	C	XM_038150		18255452	1			no_errors	ENST00000262811	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.996	T	T	18255452	C	T	18255452	3	4	129	1	0	0	0	0	1	0	0	0	9364	652	23	1	2760	1	MAST3	19	18255452	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	4784860	18255452	40873531	206	33261											
SIGLEC10	89790	genome.wustl.edu	37	chr19	51919988	51919988	+	Missense_Mutation	SNP	A	A	T	1	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	agaagtccacatggcaggtgAggtcggtgttgtggtcctgg	7	10	17	7	1	0	2	0	1	0	1	3	2	2	2	2	6	0	2	2	6	1	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:51919988A>T	ENST00000339313.5	-	3	754	c.638T>A	c.(637-639)cTc>cAc	p.L213H	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.L213H|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.L165H|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.L155H|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.L213H|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.L155H|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.L155H|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.L213H			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	213	Ig-like C2-type 1.				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)		ATGGCAGGTGAGGTCGGTGTT	0.632																																																	0													123	97	106					19																	51919988		2203	4300	6503	SO:0001583	missense	0			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.638T>A	19.37:g.51919988A>T	ENSP00000345243:p.Leu213His		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L213H	ENST00000339313.5	37	c.638	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	14.62	2.591050	0.46214	.	.	ENSG00000142512	ENST00000353836;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627;ENST00000530476	D;D;D;D;D;D;D;D;D;D	0.88509	-1.59;-2.39;-1.59;-2.39;-1.59;-2.39;-2.39;-1.59;-2.39;-1.59	4.69	4.69	0.59074	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000208	D	0.94928	0.8360	M	0.91768	3.24	0.37819	D	0.928311	D;D;D;D;D;D;D	0.89917	1.0;0.988;0.967;1.0;0.972;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.999;0.944;0.698;1.0;0.943;0.993;1.0	D	0.96323	0.9238	10	0.87932	D	0	.	10.5114	0.44864	1.0:0.0:0.0:0.0	.	165;213;155;213;155;155;213	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	H	213;155;213;155;213;155;165;213;27;180	ENSP00000342389:L213H;ENSP00000395475:L155H;ENSP00000348646:L213H;ENSP00000408387:L155H;ENSP00000431444:L213H;ENSP00000389132:L155H;ENSP00000414324:L165H;ENSP00000345243:L213H;ENSP00000435281:L27H;ENSP00000433838:L180H	ENSP00000345243:L213H	L	-	2	0	SIGLEC10	56611800	1.000000	0.71417	0.978000	0.43139	0.033000	0.12548	4.388000	0.59633	1.746000	0.51805	0.260000	0.18958	CTC	SIGLEC10	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000142512		0.632	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	-	0	238	0	A	NM_033130		51919988	-1	tier1	-	no_errors	ENST00000339313	ensembl	human	known	74_37	missense	6.38	131	9	SNP	0.999	T	T	51919988	A	T	51919988	3	4	129	1	0	0	0	0	1	0	0	0	14351	304	11	5	1491	5	SIGLEC10	19	51919988	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	33664536	51919988	7208995	207	33262											
FPR1	2357	genome.wustl.edu	37	chr19	52249357	52249357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgaagacatagagcatgggGttgaggcagctgttgaagaa	14	8	15	4	0	0	6	0	3	0	3	0	6	0	6	0	3	2	5	0	3	4	3	rs571424983		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:52249357G>C	ENST00000595042.1	-	3	1032	c.891C>G	c.(889-891)aaC>aaG	p.N297K	FPR1_ENST00000304748.4_Missense_Mutation_p.N297K	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	297					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGAGCATGGGGTTGAGGCAGC	0.547																																																	0													131	111	118					19																	52249357		2203	4300	6503	SO:0001583	missense	0			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.891C>G	19.37:g.52249357G>C	ENSP00000471493:p.Asn297Lys		Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt	p.N297K	ENST00000595042.1	37	c.891	CCDS12839.1	19	.	.	.	.	.	.	.	.	.	.	.	16.26	3.072483	0.55646	.	.	ENSG00000171051	ENST00000304748	D	0.85411	-1.98	3.55	1.34	0.21922	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94394	0.8197	H	0.98833	4.345	0.40745	D	0.982868	D	0.89917	1.0	D	0.97110	1.0	D	0.92305	0.5853	10	0.87932	D	0	.	7.6608	0.28402	0.2278:0.0:0.7722:0.0	.	297	P21462	FPR1_HUMAN	K	297	ENSP00000302707:N297K	ENSP00000302707:N297K	N	-	3	2	FPR1	56941169	1.000000	0.71417	0.980000	0.43619	0.697000	0.40408	1.976000	0.40579	0.263000	0.21812	-0.145000	0.13849	AAC	FPR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171051		0.547	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR1	HGNC	protein_coding	OTTHUMT00000466905.1	-	0	65	0	G	NM_002029		52249357	-1	tier1	-	no_errors	ENST00000304748	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	C	C	52249357	G	C	52249357	3	2	129	1	0	0	0	0	1	0	0	0	6062	1252	44	5	165	5	FPR1	19	52249357	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	329369	52249357	6879626	208	33263											
ZNF611	81856	genome.wustl.edu	37	chr19	53219110	53219110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagagccatgcctggctccTttcctttcctcttctgagct	5	14	8	14	0	2	2	0	1	2	1	5	3	5	2	5	1	3	2	5	1	1	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:53219110T>C	ENST00000319783.1	-	5	354	c.38A>G	c.(37-39)aAg>aGg	p.K13R	ZNF611_ENST00000595798.1_5'UTR|ZNF611_ENST00000596702.1_Missense_Mutation_p.K13R|ZNF611_ENST00000453741.2_5'UTR|ZNF611_ENST00000543227.1_Missense_Mutation_p.K13R|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000540744.1_Missense_Mutation_p.K13R|ZNF611_ENST00000600943.1_Missense_Mutation_p.K13R	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GCCTGGCTCCTTTCCTTTCCT	0.423																																																	0													226	244	238					19																	53219110		1511	2707	4218	SO:0001583	missense	0			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.38A>G	19.37:g.53219110T>C	ENSP00000322427:p.Lys13Arg		B3KRD5|Q69YG9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K13R	ENST00000319783.1	37	c.38	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	9.570	1.120665	0.20877	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000319783	T;T;T	0.07567	3.18;3.18;3.18	2.05	-4.1	0.03940	.	.	.	.	.	T	0.04318	0.0119	L	0.47716	1.5	0.18873	N	0.999982	P	0.34522	0.455	B	0.25759	0.063	T	0.41034	-0.9531	9	0.15952	T	0.53	.	0.1399	0.00082	0.2541:0.2781:0.1798:0.2881	.	13	Q8N823	ZN611_HUMAN	R	13	ENSP00000437616:K13R;ENSP00000439211:K13R;ENSP00000322427:K13R	ENSP00000322427:K13R	K	-	2	0	ZNF611	57910922	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	0.009000	0.13219	-1.041000	0.03266	0.248000	0.18094	AAG	ZNF611	-	NULL	ENSG00000213020		0.423	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1		0	121	0	T	NM_030972		53219110	-1			no_errors	ENST00000319783	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	C	C	53219110	T	C	53219110	3	2	129	1	0	0	0	0	1	0	0	0	18085	1609	56	4	2091	4	ZNF611	19	53219110	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	969753	53219110	5909873	209	33264											
NLRP4	147945	genome.wustl.edu	37	chr19	56388459	56388459	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcaaattgggtgcaatGaaatcggagatgtgggtgtg	10	12	15	4	1	1	2	0	1	1	1	2	3	1	2	0	3	2	2	0	3	3	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:56388459G>T	ENST00000301295.6	+	8	3045	c.2623G>T	c.(2623-2625)Gaa>Taa	p.E875*	NLRP4_ENST00000587891.1_Nonsense_Mutation_p.E800*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.E819*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	875					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)		TGGGTGCAATGAAATCGGAGA	0.493																																																	0													192	184	187					19																	56388459		2203	4300	6503	SO:0001587	stop_gained	0			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.2623G>T	19.37:g.56388459G>T	ENSP00000301295:p.Glu875*		Q86W87|Q96AY6	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E875*	ENST00000301295.6	37	c.2623	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.562594	0.98361	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	3.75	-4.82	0.03171	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.7664	0.13134	0.464:0.3108:0.2251:0.0	.	.	.	.	X	875;819	.	ENSP00000301295:E875X	E	+	1	0	NLRP4	61080271	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.729000	0.04920	-0.585000	0.05905	0.460000	0.39030	GAA	NLRP4	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000160505		0.493	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	-	0	129	0	G	NM_134444		56388459	1	tier1	-	no_errors	ENST00000301295	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	0.000	T	T	56388459	G	T	56388459	4	4	129	1	0	0	0	0	0	1	0	0	10518	1291	45	3	2649	3	NLRP4	19	56388459	Nonsense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	3169349	56388459	2740524	210	33265											
HM13	81502	genome.wustl.edu	37	chr20	30154016	30154016	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	cctgtgtcctctcatagcctGccctcctatacctggtcccc	4	12	6	19	0	1	0	1	0	1	0	5	0	4	0	8	1	3	0	8	1	3	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:30154016G>A	ENST00000340852.5	+	11	1076	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	HM13_ENST00000398174.3_Missense_Mutation_p.A318T|HM13-IT1_ENST00000421894.1_RNA|HM13_ENST00000376127.3_Missense_Mutation_p.A276T|HM13-AS1_ENST00000412178.1_RNA|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000335574.5_Missense_Mutation_p.A318T	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	318					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)			CTCATAGCCTGCCCTCCTATA	0.627																																																	0													100	87	91					20																	30154016		2203	4300	6503	SO:0001583	missense	0			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.952G>A	20.37:g.30154016G>A	ENSP00000343032:p.Ala318Thr		B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.A318T	ENST00000340852.5	37	c.952	CCDS13182.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.099775	0.94197	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.78585	0.4306	H	0.98333	4.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.99	D	0.87069	0.2158	10	0.87932	D	0	-18.9111	16.2225	0.82267	0.0:0.0:1.0:0.0	.	318;318;318	Q8TCT9;Q8TCT9-4;Q8TCT9-2	HM13_HUMAN;.;.	T	318;318;318;276	ENSP00000335294:A318T;ENSP00000343032:A318T;ENSP00000381237:A318T;ENSP00000365296:A276T	ENSP00000335294:A318T	A	+	1	0	HM13	29617677	1.000000	0.71417	0.999000	0.59377	0.688000	0.40055	9.306000	0.96204	2.513000	0.84729	0.462000	0.41574	GCC	HM13	-	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	ENSG00000101294		0.627	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	HGNC	protein_coding	OTTHUMT00000078527.2	-	0	89	0	G	NM_178580		30154016	1	tier1	-	no_errors	ENST00000398174	ensembl	human	known	74_37	missense	36.07	38	22	SNP	1.000	A	A	30154016	G	A	30154016	3	1	129	1	0	0	0	0	1	0	0	0	7244	1319	46	3	1061	3	HM13	20	30154016	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09		30154016	32871504	211	33266											
C20orf70	140683	genome.wustl.edu	37	chr20	31756970	31756970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgcttcagctttggaaaCttgttctcctgtgcggcgtg	6	14	12	9	2	2	1	1	0	1	1	3	2	2	2	1	2	4	3	1	2	1	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:31756970C>T	ENST00000253362.2	+	2	165	c.19C>T	c.(19-21)Ctt>Ttt	p.L7F	BPIFA2_ENST00000354932.5_Missense_Mutation_p.L7F			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	7						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GCTTTGGAAACTTGTTCTCCT	0.488																																																	0													164	146	152					20																	31756970		2203	4300	6503	SO:0001583	missense	0			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"BPI fold containing"	16203	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 70"	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.19C>T	20.37:g.31756970C>T	ENSP00000253362:p.Leu7Phe		Q9BQQ0	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.L7F	ENST00000253362.2	37	c.19	CCDS13214.1	20	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058059	0.36277	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.51574	0.7;0.7	4.58	3.64	0.41730	.	0.143224	0.32578	N	0.005906	T	0.36991	0.0987	L	0.47016	1.485	0.25027	N	0.991294	B	0.31241	0.315	B	0.29598	0.104	T	0.22871	-1.0204	10	0.34782	T	0.22	1.9376	9.0438	0.36333	0.0:0.9014:0.0:0.0986	.	7	Q96DR5	BPIA2_HUMAN	F	7	ENSP00000253362:L7F;ENSP00000347012:L7F	ENSP00000253362:L7F	L	+	1	0	BPIFA2	31220631	0.569000	0.26643	0.978000	0.43139	0.936000	0.57629	0.221000	0.17680	1.546000	0.49388	-0.122000	0.15005	CTT	BPIFA2	-	NULL	ENSG00000131050		0.488	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA2	HGNC	protein_coding	OTTHUMT00000257117.1	-	0	49	0	C	NM_080574		31756970	1	tier1	-	no_errors	ENST00000253362	ensembl	human	known	74_37	missense	20.83	38	10	SNP	0.986	T	T	31756970	C	T	31756970	3	4	129	1	0	0	0	0	1	0	0	0	2123	565	20	3	21	3	C20orf70	20	31756970	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	1602954	31756970	31268550	212	33267											
CPNE1	8904	genome.wustl.edu	37	chr20	34215317	34215317	+	Missense_Mutation	SNP	T	T	C	0	1	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	gcagggcttggcggtaggcaTccacaatgccctggatgcct	7	8	14	12	1	0	0	0	0	0	0	1	1	1	1	3	5	2	4	3	5	2	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:34215317T>C	ENST00000317619.3	-	16	1515	c.1121A>G	c.(1120-1122)gAt>gGt	p.D374G	CPNE1_ENST00000397442.1_Missense_Mutation_p.D374G|CPNE1_ENST00000397445.1_Missense_Mutation_p.D374G|CPNE1_ENST00000397443.1_Missense_Mutation_p.D374G|CPNE1_ENST00000352393.4_Missense_Mutation_p.D374G|CPNE1_ENST00000317677.5_Missense_Mutation_p.D379G|CPNE1_ENST00000397446.1_Missense_Mutation_p.D374G			Q99829	CPNE1_HUMAN	copine I	374	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GCGGTAGGCATCCACAATGCC	0.562																																																	0													89	81	84					20																	34215317		2203	4300	6503	SO:0001583	missense	0			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1121A>G	20.37:g.34215317T>C	ENSP00000326126:p.Asp374Gly		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.D379G	ENST00000317619.3	37	c.1136	CCDS13260.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.110177|4.110177	0.77210|0.77210	.|.	.|.	ENSG00000214078|ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570|ENST00000415920	T;T;T;T;T;T;T;T;T|.	0.23552|.	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9|.	4.88|4.88	4.88|4.88	0.63580|0.63580	von Willebrand factor, type A (1);Copine (1);|.	0.201570|.	0.41097|.	U|.	0.000954|.	T|T	0.63850|0.63850	0.2546|0.2546	M|M	0.65677|0.65677	2.01|2.01	0.44188|0.44188	D|D	0.997008|0.997008	B;B;B;B;B|.	0.19200|.	0.009;0.009;0.004;0.016;0.034|.	B;B;B;B;B|.	0.23852|.	0.049;0.02;0.02;0.016;0.034|.	T|T	0.63976|0.63976	-0.6515|-0.6515	10|5	0.54805|.	T|.	0.06|.	-22.2843|-22.2843	8.7226|8.7226	0.34449|0.34449	0.0:0.0889:0.0:0.9111|0.0:0.0889:0.0:0.9111	.|.	379;374;374;354;374|.	B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0|.	.;.;CPNE1_HUMAN;.;.|.	G|V	374;379;374;374;374;374;374;374;350|13	ENSP00000336945:D374G;ENSP00000317257:D379G;ENSP00000326126:D374G;ENSP00000380588:D374G;ENSP00000380587:D374G;ENSP00000380585:D374G;ENSP00000380584:D374G;ENSP00000415597:D374G;ENSP00000390626:D350G|.	ENSP00000326126:D374G|.	D|M	-|-	2|1	0|0	CPNE1|CPNE1	33678731|33678731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.126000|6.126000	0.71635|0.71635	2.042000|2.042000	0.60477|0.60477	0.460000|0.460000	0.39030|0.39030	GAT|ATG	CPNE1	-	pfam_Copine,smart_VWF_A	ENSG00000214078		0.562	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	HGNC	protein_coding	OTTHUMT00000078909.3	-	0	53	0	T	NM_152930		34215317	-1	tier1	-	no_errors	ENST00000317677	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	C	C	34215317	T	C	34215317	3	2	129	1	0	0	0	0	1	0	0	0	3818	1435	50	4	504	4	CPNE1	20	34215317	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	2458347	34215317	28810203	213	33268											
PTPRT	11122	genome.wustl.edu	37	chr20	41306627	41306627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagatgccacagcttataGttgggagagtcgactatgtg	10	11	12	8	1	0	2	0	0	0	2	2	4	1	2	2	1	2	2	2	1	3	4	rs202093079	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:41306627G>T	ENST00000373187.1	-	7	1031	c.1032C>A	c.(1030-1032)aaC>aaA	p.N344K	PTPRT_ENST00000373201.1_Missense_Mutation_p.N344K|PTPRT_ENST00000373193.3_Missense_Mutation_p.N344K|PTPRT_ENST00000373184.1_Missense_Mutation_p.N344K|PTPRT_ENST00000356100.2_Missense_Mutation_p.N344K|PTPRT_ENST00000373190.1_Missense_Mutation_p.N344K|PTPRT_ENST00000373198.4_Missense_Mutation_p.N344K			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	344	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACAGCTTATAGTTGGGAGAGT	0.592																																																	0								G	LYS/ASN,LYS/ASN	0,4030		0,0,2015	146	150	149		1032,1032	4.5	1	20		149	2,8340		0,2,4169	yes	missense,missense	PTPRT	NM_007050.5,NM_133170.3	94,94	0,2,6184	TT,TG,GG		0.024,0.0,0.0162	benign,benign	344/1442,344/1461	41306627	2,12370	2015	4171	6186	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1032C>A	20.37:g.41306627G>T	ENSP00000362283:p.Asn344Lys		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.N344K	ENST00000373187.1	37	c.1032	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451396	0.43531	0.0	2.4E-4	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.42	4.46	0.54185	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.056675	0.64402	D	0.000002	T	0.69260	0.3091	L	0.29908	0.895	0.35631	D	0.810191	B;B	0.31730	0.337;0.263	B;B	0.36766	0.149;0.232	T	0.74097	-0.3775	10	0.87932	D	0	.	4.8177	0.13374	0.1632:0.2049:0.6319:0.0	.	344;344	O14522-1;O14522	.;PTPRT_HUMAN	K	344	ENSP00000362286:N344K;ENSP00000362283:N344K;ENSP00000362289:N344K;ENSP00000348408:N344K;ENSP00000362294:N344K;ENSP00000362280:N344K;ENSP00000362297:N344K	ENSP00000348408:N344K	N	-	3	2	PTPRT	40740041	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.261000	0.32980	2.705000	0.92388	0.655000	0.94253	AAC	PTPRT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196090		0.592	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	90	0	G			41306627	-1	tier1	rs202093079	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	49.06	27	26	SNP	1.000	T	T	41306627	G	T	41306627	3	4	129	1	0	0	0	0	1	0	0	0	12857	1020	36	3	3454	3	PTPRT	20	41306627	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	7091310	41306627	21718893	214	33269											
PTPRT	11122	genome.wustl.edu	37	chr20	41400075	41400075	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttctctcatgcttacCtggagccaaagcttgtcatg	8	12	10	11	0	3	0	2	0	1	0	4	2	3	1	2	2	4	3	2	2	2	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:41400075C>A	ENST00000373187.1	-	5	683	c.684G>T	c.(682-684)caG>caT	p.Q228H	PTPRT_ENST00000373201.1_Splice_Site_p.Q228H|PTPRT_ENST00000373193.3_Splice_Site_p.Q228H|PTPRT_ENST00000373184.1_Splice_Site_p.Q228H|PTPRT_ENST00000356100.2_Splice_Site_p.Q228H|PTPRT_ENST00000373190.1_Splice_Site_p.Q228H|PTPRT_ENST00000373198.4_Splice_Site_p.Q228H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	228	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.Q228H(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCATGCTTACCTGGAGCCAAA	0.493																																																	1	Substitution - Missense(1)	endometrium(1)											169	155	159					20																	41400075		2027	4204	6231	SO:0001630	splice_region_variant	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.684+1G>T	20.37:g.41400075C>A			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.Q228H	ENST00000373187.1	37	c.684	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172509	0.78452	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.45	4.47	0.54385	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.138395	0.50627	D	0.000106	T	0.53786	0.1818	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.55055	-0.8200	9	.	.	.	.	16.1525	0.81632	0.0:0.8661:0.1339:0.0	.	228;228	O14522-1;O14522	.;PTPRT_HUMAN	H	228	ENSP00000362286:Q228H;ENSP00000362283:Q228H;ENSP00000362289:Q228H;ENSP00000348408:Q228H;ENSP00000362294:Q228H;ENSP00000362280:Q228H;ENSP00000362297:Q228H	.	Q	-	3	2	PTPRT	40833489	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.385000	0.79763	1.361000	0.45981	0.650000	0.86243	CAG	PTPRT	-	pfscan_Ig-like_dom	ENSG00000196090		0.493	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1		0	58	0	C		Missense_Mutation	41400075	-1			no_errors	ENST00000373198	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	41400075	C	A	41400075	5	1	129	1	0	0	0	0	0	0	1	0	12857	695	24	3	3810	3	PTPRT	20	41400075	Splice_Site	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	93448	41400075	21625445	215	33270											
ELMO2	63916	genome.wustl.edu	37	chr20	45014797	45014797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgagctgtcccacggtgaTttcctcggctatcttctggt	5	14	11	11	2	2	2	0	2	2	0	5	3	4	2	2	3	1	2	2	3	1	3	rs113022678		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:45014797T>C	ENST00000290246.6	-	9	837	c.643A>G	c.(643-645)Atc>Gtc	p.I215V	ELMO2_ENST00000352077.2_Missense_Mutation_p.I213V|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.I215V|ELMO2_ENST00000445496.2_Missense_Mutation_p.I32V|ELMO2_ENST00000372176.1_Missense_Mutation_p.I127V|ELMO2_ENST00000439931.2_Missense_Mutation_p.I215V	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	215					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CCCACGGTGATTTCCTCGGCT	0.517																																																	0													134	123	127					20																	45014797		2203	4300	6503	SO:0001583	missense	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.643A>G	20.37:g.45014797T>C	ENSP00000290246:p.Ile215Val		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.I215V	ENST00000290246.6	37	c.643	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	T	9.556	1.117272	0.20795	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;1.57;0.75;1.54;0.75	4.85	3.73	0.42828	Armadillo-like helical (1);Armadillo-type fold (1);	0.097447	0.64402	N	0.000001	T	0.28267	0.0698	N	0.20574	0.59	0.80722	D	1	B;B;B	0.16603	0.018;0.012;0.003	B;B;B	0.23018	0.043;0.023;0.016	T	0.05599	-1.0875	10	0.07482	T	0.82	-23.5665	9.9481	0.41623	0.0:0.081:0.0:0.919	.	215;215;215	B4DRL5;E9PBG2;Q96JJ3	.;.;ELMO2_HUMAN	V	215;127;215;215;32;213;3;215	ENSP00000290246:I215V;ENSP00000361249:I127V;ENSP00000379673:I215V;ENSP00000396519:I215V;ENSP00000409920:I32V;ENSP00000326172:I213V;ENSP00000388962:I3V;ENSP00000416181:I215V	ENSP00000290246:I215V	I	-	1	0	ELMO2	44448204	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.788000	0.69020	0.851000	0.35264	0.482000	0.46254	ATC	ELMO2	-	pfam_DUF3361,superfamily_ARM-type_fold	ENSG00000062598		0.517	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	-	0	48	0	T	NM_022086		45014797	-1	tier1	rs113022678	no_errors	ENST00000439931	ensembl	human	known	74_37	missense	37.93	18	11	SNP	1.000	C	C	45014797	T	C	45014797	3	2	129	1	0	0	0	0	1	0	0	0	5082	1493	52	4	1575	4	ELMO2	20	45014797	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09	3614722	45014797	18010723	216	33271											
SPATA2	9825	genome.wustl.edu	37	chr20	48523309	48523309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggtgtgtagcccatgCagctcaggatggctcggatg	7	9	15	10	1	2	0	2	0	0	0	3	2	2	2	1	4	3	5	1	4	1	1	rs201830184		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:48523309C>T	ENST00000422556.1	-	3	759	c.410G>A	c.(409-411)tGc>tAc	p.C137Y	SPATA2_ENST00000543716.1_5'UTR|SPATA2_ENST00000289431.5_Missense_Mutation_p.C137Y	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	137					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)			GTAGCCCATGCAGCTCAGGAT	0.512																																																	0													50	48	49					20																	48523309		2203	4300	6503	SO:0001583	missense	0			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.410G>A	20.37:g.48523309C>T	ENSP00000416799:p.Cys137Tyr		E1P626|O94857	Missense_Mutation	SNP	NULL	p.C137Y	ENST00000422556.1	37	c.410	CCDS13422.1	20	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.563891	0.00903	.	.	ENSG00000158480	ENST00000289431;ENST00000422556	T;T	0.62498	0.02;0.02	5.61	1.85	0.25348	.	0.384601	0.26404	N	0.024574	T	0.18341	0.0440	N	0.00538	-1.39	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27434	-1.0074	10	0.02654	T	1	-21.2335	2.4031	0.04406	0.2624:0.0741:0.1286:0.535	.	137	Q9UM82	SPAT2_HUMAN	Y	137	ENSP00000289431:C137Y;ENSP00000416799:C137Y	ENSP00000289431:C137Y	C	-	2	0	SPATA2	47956716	1.000000	0.71417	0.790000	0.31976	0.655000	0.38815	2.079000	0.41577	0.382000	0.24878	-0.469000	0.05056	TGC	SPATA2	-	NULL	ENSG00000158480		0.512	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2	HGNC	protein_coding	OTTHUMT00000079658.1		0	73	0	C	NM_006038		48523309	-1			no_errors	ENST00000289431	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.809	T	T	48523309	C	T	48523309	3	4	129	1	0	0	0	0	1	0	0	0	15052	710	25	3	1156	3	SPATA2	20	48523309	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	3508512	48523309	14502211	217	33272											
CDH26	60437	genome.wustl.edu	37	chr20	58564206	58564206	+	Missense_Mutation	SNP	A	A	G	1	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	ttttaatgccatggatccagAcagccagataaggtgagaag	14	9	11	7	0	0	3	0	1	0	3	1	5	1	4	3	2	2	0	3	2	3	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:58564206A>G	ENST00000244047.5	+	9	1582	c.1271A>G	c.(1270-1272)gAc>gGc	p.D424G	CDH26_ENST00000348616.4_Missense_Mutation_p.D424G			Q8IXH8	CAD26_HUMAN	cadherin 26	424	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ATGGATCCAGACAGCCAGATA	0.532																																																	0													128	153	145					20																	58564206		2202	4300	6502	SO:0001583	missense	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1271A>G	20.37:g.58564206A>G	ENSP00000244047:p.Asp424Gly		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D424G	ENST00000244047.5	37	c.1271		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.51|17.51	3.408196|3.408196	0.62399|0.62399	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000244047;ENST00000348616|ENST00000370991	T;T|.	0.74632|.	-0.86;-0.86|.	5.26|5.26	4.13|4.13	0.48395|0.48395	.|.	0.062743|.	0.64402|.	D|.	0.000013|.	D|D	0.87330|0.87330	0.6150|0.6150	H|H	0.98629|0.98629	4.285|4.285	0.41213|0.41213	D|D	0.986453|0.986453	D|.	0.71674|.	0.998|.	D|.	0.74348|.	0.983|.	D|D	0.88765|0.88765	0.3260|0.3260	10|5	0.87932|.	D|.	0|.	.|.	9.3606|9.3606	0.38192|0.38192	0.8403:0.0:0.0:0.1597|0.8403:0.0:0.0:0.1597	.|.	424|.	Q8IXH8-4|.	.|.	G|A	424|16	ENSP00000244047:D424G;ENSP00000339390:D424G|.	ENSP00000244047:D424G|.	D|T	+|+	2|1	0|0	CDH26|CDH26	57997601|57997601	0.998000|0.998000	0.40836|0.40836	0.019000|0.019000	0.16419|0.16419	0.012000|0.012000	0.07955|0.07955	5.451000|5.451000	0.66632|0.66632	0.890000|0.890000	0.36211|0.36211	0.533000|0.533000	0.62120|0.62120	GAC|ACA	CDH26	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000124215		0.532	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		-	0	110	0	A	NM_177980		58564206	1	tier1	-	no_errors	ENST00000244047	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.837	G	G	58564206	A	G	58564206	3	3	129	1	0	0	0	0	1	0	0	0	3117	275	10	4	1305	4	CDH26	20	58564206	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	10040897	58564206	4461314	218	33273											
GABPA	2551	genome.wustl.edu	37	chr21	27117646	27117646	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctttggatgctcatgaaaTttgtctgcaagatatccagg	10	15	9	7	0	3	2	1	1	2	1	4	3	4	3	1	2	2	2	1	2	3	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr21:27117646T>A	ENST00000354828.3	+	3	730	c.203T>A	c.(202-204)aTt>aAt	p.I68N	GABPA_ENST00000487266.1_3'UTR|GABPA_ENST00000400075.3_Missense_Mutation_p.I68N	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	68					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|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)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 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)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GCTCATGAAATTTGTCTGCAA	0.333																																																	0													64	65	65					21																	27117646		2203	4300	6503	SO:0001583	missense	0				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"human nuclear respiratory factor-2 subunit alpha", "nuclear respiratory factor 2 alpha subunit"	600609	"GA-binding protein transcription factor, alpha subunit (60kD)"			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.203T>A	21.37:g.27117646T>A	ENSP00000346886:p.Ile68Asn		Q12939	Missense_Mutation	SNP	pfam_GABP_asu_N,pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_TF_GA-bd_asu,pfscan_Ets_dom,prints_Ets_dom	p.I68N	ENST00000354828.3	37	c.203	CCDS13575.1	21	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163696	0.78226	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.15372	2.43;2.43	5.23	5.23	0.72850	GA-binding protein alpha subunit, N-terminal (1);	0.000000	0.64402	D	0.000006	T	0.37128	0.0992	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.12656	-1.0539	10	0.87932	D	0	.	14.7791	0.69751	0.0:0.0:0.0:1.0	.	68	Q06546	GABPA_HUMAN	N	68	ENSP00000346886:I68N;ENSP00000382948:I68N	ENSP00000346886:I68N	I	+	2	0	GABPA	26039517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.640000	0.83355	1.972000	0.57404	0.533000	0.62120	ATT	GABPA	-	pfam_GABP_asu_N,pirsf_TF_GA-bd_asu	ENSG00000154727		0.333	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GABPA	HGNC	protein_coding	OTTHUMT00000171365.1		0	81	0	T	NM_002040		27117646	1			no_errors	ENST00000354828	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A	A	27117646	T	A	27117646	3	1	129	1	0	0	0	0	1	0	0	0	6181	1493	52	5	209	5	GABPA	21	27117646	Missense_Mutation	SNP	T	TCGA-LN-A8HZ-01A-11D-A36J-09		27117646	21012249	219	33274											
CLDN8	9073	genome.wustl.edu	37	chr21	31587980	31587980	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagccaagaaggacatcacGgaagcagcacacatcagtcc	17	3	9	12	1	2	1	2	0	0	1	3	3	3	3	2	2	3	2	2	2	4	0	rs372970119		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr21:31587980G>T	ENST00000399899.1	-	1	411	c.264C>A	c.(262-264)tcC>tcA	p.S88S	CLDN8_ENST00000286809.1_Silent_p.S88S	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	88					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						AGGACATCACGGAAGCAGCAC	0.532																																																	0													111	90	97					21																	31587980		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"Claudins"	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.264C>A	21.37:g.31587980G>T			D3DSE3|Q53EX7	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14	p.S88	ENST00000399899.1	37	c.264	CCDS13587.1	21																																																																																			CLDN8	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000156284		0.532	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN8	HGNC	protein_coding	OTTHUMT00000182260.1	-	0	103	0	G	NM_199328		31587980	-1	tier1	-	no_errors	ENST00000286809	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.000	T	T	31587980	G	T	31587980	2	4	129	1	0	0	0	0	0	0	0	1	3498	1103	39	2		2	CLDN8	21	31587980	Silent	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	4470334	31587980	16541915	220	33275											
ADORA2A	135	genome.wustl.edu	37	chr22	24836564	24836564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccccaggtacaatggcttgGtgaccggcacgagggctaag	9	7	14	11	2	0	1	0	1	0	0	1	2	1	1	3	5	1	4	3	5	3	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr22:24836564G>T	ENST00000337539.7	+	3	805	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_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	116					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)	CAATGGCTTGGTGACCGGCAC	0.577																																																	0													109	102	104					22																	24836564		2203	4300	6503	SO:0001583	missense	0			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.346G>T	22.37:g.24836564G>T	ENSP00000336630:p.Val116Leu		B2R7E0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.V116L	ENST00000337539.7	37	c.346	CCDS13826.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.596130|4.596130	0.86953|0.86953	.|.	.|.	ENSG00000128271|ENSG00000258555	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596|ENST00000493440	T;T|.	0.17691|.	2.26;2.26|.	4.97|4.97	4.97|4.97	0.65823|0.65823	GPCR, rhodopsin-like superfamily (1);|.	0.133096|.	0.50627|.	D|.	0.000120|.	T|T	0.70168|0.70168	0.3193|0.3193	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P|.	0.41188|.	0.741|.	P|.	0.48840|.	0.592|.	T|T	0.68055|0.68055	-0.5510|-0.5510	10|5	0.42905|.	T|.	0.14|.	-29.7608|-29.7608	17.5713|17.5713	0.87935|0.87935	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	116|.	P29274|.	AA2AR_HUMAN|.	L|C	116|48	ENSP00000414802:V116L;ENSP00000336630:V116L|.	ENSP00000336630:V116L|.	V|W	+|+	1|3	0|0	ADORA2A|KB-1896H10.1	23166564|23166564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	9.143000|9.143000	0.94623|0.94623	2.454000|2.454000	0.82982|0.82982	0.563000|0.563000	0.77884|0.77884	GTG|TGG	ADORA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000128271		0.577	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2A	HGNC	protein_coding	OTTHUMT00000319971.2		0	120	0	G	NM_000675		24836564	1			no_errors	ENST00000337539	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	24836564	G	T	24836564	3	4	129	1	0	0	0	0	1	0	0	0	327	1261	44	3	352	3	ADORA2A	22	24836564	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09		24836564	26468002	221	33276											
CYP2D6	1565	genome.wustl.edu	37	chr22	42522969	42522969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcatccttcagcaccgatGacaggttggtgatgagtgtc	8	11	11	11	1	2	3	2	3	0	0	4	4	3	3	3	2	1	2	3	2	0	2			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr22:42522969G>A	ENST00000360608.5	-	8	1313	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	CYP2D6_ENST00000389970.3_Missense_Mutation_p.S400L|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.S349L|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000600968.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	400					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)	CAGCACCGATGACAGGTTGGT	0.612																																																	0													41	33	36					22																	42522969		2192	4292	6484	SO:0001583	missense	0			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.1199C>T	22.37:g.42522969G>A	ENSP00000353820:p.Ser400Leu		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S400L	ENST00000360608.5	37	c.1199	CCDS46721.1	22	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707019	0.89018	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.78246	-1.16;-1.16;5.12	5.08	4.02	0.46733	.	0.284309	0.30151	N	0.010291	D	0.87569	0.6210	M	0.88979	2.995	0.48975	D	0.999732	D;P;D	0.67145	0.996;0.931;0.996	P;P;P	0.58721	0.844;0.651;0.844	D	0.90465	0.4449	10	0.87932	D	0	.	15.1991	0.73120	0.0:0.1411:0.8589:0.0	.	400;349;400	C1ID54;Q6NXU8;Q6NWU0	.;.;.	L	400;400;346;349;349	ENSP00000353820:S400L;ENSP00000374620:S400L;ENSP00000351927:S349L	ENSP00000351927:S349L	S	-	2	0	CYP2D6	40852913	0.999000	0.42202	0.972000	0.41901	0.645000	0.38454	3.591000	0.53986	2.352000	0.79861	0.555000	0.69702	TCA	CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450_B	ENSG00000100197		0.612	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1	-	0	78	0	G			42522969	-1	tier1	-	no_errors	ENST00000360608	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.999	A	A	42522969	G	A	42522969	3	1	129	1	0	0	0	0	1	0	0	0	4178	1294	45	3	302	3	CYP2D6	22	42522969	Missense_Mutation	SNP	G	TCGA-LN-A8HZ-01A-11D-A36J-09	17686405	42522969	8781597	222	33277											
CPT1B	1375	genome.wustl.edu	37	chr22	51009414	51009414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctgccccggtcatggccaggCggtacatattctggtgcttc	5	11	12	13	2	2	0	1	0	1	0	3	0	2	0	3	5	3	2	3	5	2	4			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr22:51009414C>T	ENST00000360719.2	-	16	2071	c.1934G>A	c.(1933-1935)cGc>cAc	p.R645H	CPT1B_ENST00000434492.2_Missense_Mutation_p.R440H|CPT1B_ENST00000405237.3_Missense_Mutation_p.R645H|CPT1B_ENST00000440709.1_Missense_Mutation_p.R564H|CPT1B_ENST00000395650.2_Missense_Mutation_p.R645H|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.R645H|CPT1B_ENST00000457250.1_Missense_Mutation_p.R611H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	645					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CATGGCCAGGCGGTACATATT	0.562																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													169	168	168					22																	51009414		2203	4300	6503	SO:0001583	missense	0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1934G>A	22.37:g.51009414C>T	ENSP00000353945:p.Arg645His		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.R645H	ENST00000360719.2	37	c.1934	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	C	34	5.332986	0.95758	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	5.74	5.74	0.90152	.	0.050768	0.85682	D	0.000000	D	0.95903	0.8666	M	0.92923	3.36	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;0.99;0.992;0.998	D	0.96513	0.9380	10	0.87932	D	0	-27.3576	17.4218	0.87517	0.0:1.0:0.0:0.0	.	564;611;440;645	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	H	645;645;645;611;564;440;645	ENSP00000385486:R645H;ENSP00000312189:R645H;ENSP00000353945:R645H;ENSP00000409342:R611H;ENSP00000414713:R564H;ENSP00000410966:R440H;ENSP00000379011:R645H	ENSP00000312189:R645H	R	-	2	0	CPT1B	49356280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.377000	0.79668	2.715000	0.92844	0.655000	0.94253	CGC	CPT1B	-	pfam_Carn_acyl_trans	ENSG00000205560		0.562	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	-	0	100	0	C	NM_152246		51009414	-1	tier1	-	no_errors	ENST00000312108	ensembl	human	known	74_37	missense	29.41	47	20	SNP	1.000	T	T	51009414	C	T	51009414	3	4	129	1	0	0	0	0	1	0	0	0	3839	768	27	1	400	1	CPT1B	22	51009414	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	8486445	51009414	295152	223	33278											
MAP7D2	256714	genome.wustl.edu	37	chrX	20030525	20030525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggctatttgatttcccatCaagggcatccagatgaatga	12	11	9	9	0	1	4	1	3	0	1	3	4	3	4	2	2	0	2	2	2	3	3			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chrX:20030525C>G	ENST00000379651.3	-	14	1909	c.1891G>C	c.(1891-1893)Gat>Cat	p.D631H	MAP7D2_ENST00000379643.5_Missense_Mutation_p.D672H|MAP7D2_ENST00000452324.3_Missense_Mutation_p.D579H|MAP7D2_ENST00000443379.3_Missense_Mutation_p.D586H|MAP7D2_ENST00000543767.1_Missense_Mutation_p.D516H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	631					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.D672N(1)|p.D631N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GATTTCCCATCAAGGGCATCC	0.433																																																	2	Substitution - Missense(2)	lung(2)											151	142	145					X																	20030525		2203	4300	6503	SO:0001583	missense	0			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1891G>C	X.37:g.20030525C>G	ENSP00000368972:p.Asp631His		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_MAP7	p.D672H	ENST00000379651.3	37	c.2014	CCDS14195.1	X	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694776	0.68386	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.54	4.65	0.58169	.	0.070419	0.64402	D	0.000019	D	0.91758	0.7393	L	0.59436	1.845	0.46823	D	0.999215	D;D;D;D;D	0.89917	0.998;0.999;0.999;0.998;1.0	D;D;D;D;D	0.81914	0.983;0.993;0.993;0.983;0.995	D	0.91639	0.5325	10	0.52906	T	0.07	-20.4014	15.3869	0.74708	0.0:0.8639:0.1361:0.0	.	586;579;672;631;516	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	H	631;672;516;586;314;579	ENSP00000368972:D631H;ENSP00000368964:D672H;ENSP00000440691:D516H;ENSP00000388239:D586H;ENSP00000413301:D579H	ENSP00000368964:D672H	D	-	1	0	MAP7D2	19940446	0.995000	0.38212	0.873000	0.34254	0.942000	0.58702	2.408000	0.44574	1.071000	0.40834	0.525000	0.51046	GAT	MAP7D2	-	NULL	ENSG00000184368		0.433	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	-	0	58	0	C	NM_152780		20030525	-1	tier1	-	no_errors	ENST00000379643	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.991	G	G	20030525	C	G	20030525	3	3	129	1	0	0	0	0	1	0	0	0	9306	826	29	5	315	5	MAP7D2	23	20030525	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09		20030525	135240035	224	33279											
ZCCHC18	644353	genome.wustl.edu	37	chrX	103359001	103359001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgaaaactggctgatcCaagtcaatgaggtcctgcca	11	10	9	11	0	1	3	1	3	0	0	3	3	3	3	4	2	2	1	4	2	4	1			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chrX:103359001C>A	ENST00000537356.3	+	2	1613	c.199C>A	c.(199-201)Caa>Aaa	p.Q67K	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	67							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										CTGGCTGATCCAAGTCAATGA	0.493																																																	0													69	57	61					X																	103359001		692	1591	2283	SO:0001583	missense	0			AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	32459	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7B"		"zinc finger, CCHC domain containing 12 pseudogene 1"				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.199C>A	X.37:g.103359001C>A	ENSP00000473824:p.Gln67Lys			Missense_Mutation	SNP	superfamily_Znf_CCHC	p.Q67K	ENST00000537356.3	37	c.199		X																																																																																			ZCCHC18	-	NULL	ENSG00000166707		0.493	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	ZCCHC18	HGNC	protein_coding	OTTHUMT00000471686.1	-	0	26	0	C	NM_001143978		103359001	1	tier1	-	no_errors	ENST00000537356	ensembl	human	putative	74_37	missense	38.10	13	8	SNP	0.999	A	A	103359001	C	A	103359001	3	1	129	1	0	0	0	0	1	0	0	0	17634	595	21	3	201	3	ZCCHC18	23	103359001	Missense_Mutation	SNP	C	TCGA-LN-A8HZ-01A-11D-A36J-09	83328476	103359001	51911559	225	33280											
ARHGEF6	9459	genome.wustl.edu	37	chrX	135772773	135772773	+	Missense_Mutation	SNP	A	A	T	1	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	gttcaccttcccttacctccAtatgccgttctaactcttgc	6	15	4	16	1	3	0	1	0	2	0	5	0	5	0	5	0	4	2	5	0	3	7			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chrX:135772773A>T	ENST00000250617.6	-	10	2386	c.1181T>A	c.(1180-1182)aTg>aAg	p.M394K	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.M240K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.M240K|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.M267K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	394	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CCTTACCTCCATATGCCGTTC	0.478																																																	0													154	122	133					X																	135772773		2203	4300	6503	SO:0001583	missense	0			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1181T>A	X.37:g.135772773A>T	ENSP00000250617:p.Met394Lys		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.M394K	ENST00000250617.6	37	c.1181	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	A	28.3	4.907144	0.92107	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.95	5.95	0.96441	Dbl homology (DH) domain (5);	0.037592	0.85682	D	0.000000	T	0.77274	0.4106	M	0.79805	2.47	0.80722	D	1	B;P	0.41710	0.286;0.76	B;P	0.55112	0.371;0.769	T	0.80061	-0.1540	10	0.87932	D	0	.	14.201	0.65705	1.0:0.0:0.0:0.0	.	267;394	B7Z3C7;Q15052	.;ARHG6_HUMAN	K	394;240;240;240;267	ENSP00000250617:M394K;ENSP00000359654:M240K;ENSP00000359656:M240K;ENSP00000439483:M267K	ENSP00000250617:M394K	M	-	2	0	ARHGEF6	135600439	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.904000	0.92590	1.999000	0.58509	0.486000	0.48141	ATG	ARHGEF6	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000129675		0.478	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	-	0	65	0	A	NM_004840		135772773	-1	tier1	-	no_errors	ENST00000250617	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	135772773	A	T	135772773	3	4	129	1	0	0	0	0	1	0	0	0	910	217	8	5	1201	5	ARHGEF6	23	135772773	Missense_Mutation	SNP	A	TCGA-LN-A8HZ-01A-11D-A36J-09	32413772	135772773	19497787	226	33281											
ARHGEF16	27237	genome.wustl.edu	37	chr1	3389659	3389659	+	Missense_Mutation	SNP	A	A	T	1	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	caggttcttcgaggacctggAgcagcggcacaaggcccagg	9	5	15	12	2	1	0	0	0	1	0	2	3	1	2	2	6	2	3	2	6	1	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:3389659A>T	ENST00000378378.4	+	7	1445	c.1040A>T	c.(1039-1041)gAg>gTg	p.E347V	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.E59V|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.E51V|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.E59V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	347	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GAGGACCTGGAGCAGCGGCAC	0.622																																																	0													103	78	86					1																	3389659		2203	4300	6503	SO:0001583	missense	0			D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1040A>T	1.37:g.3389659A>T	ENSP00000367629:p.Glu347Val		Q86TF0|Q99434	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E347V	ENST00000378378.4	37	c.1040	CCDS46.2	1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.105602	0.77096	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000445297;ENST00000418137;ENST00000413250	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	4.38	4.38	0.52667	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.83899	0.5354	M	0.90595	3.13	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.977	D;D;P	0.79784	0.984;0.993;0.893	D	0.87604	0.2499	10	0.87932	D	0	-32.71	13.7484	0.62890	1.0:0.0:0.0:0.0	.	51;51;347	B4DJM7;B0QZD4;Q5VV41	.;.;ARHGG_HUMAN	V	347;59;59;59;51;51	ENSP00000367629:E347V;ENSP00000367624:E59V;ENSP00000367622:E59V;ENSP00000411936:E59V;ENSP00000390853:E51V;ENSP00000408887:E51V	ENSP00000367622:E59V	E	+	2	0	ARHGEF16	3379519	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.535000	0.90623	1.843000	0.53566	0.459000	0.35465	GAG	ARHGEF16	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000130762		0.622	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF16	HGNC	protein_coding	OTTHUMT00000001515.1	-	0	42	0	A	NM_014448		3389659	1	tier1	-	no_errors	ENST00000378378	ensembl	human	known	74_37	missense	67.65	11	23	SNP	1.000	T	T	3389659	A	T	3389659	3	4	130	1	0	0	0	0	1	0	0	0	899	304	11	5	1062	5	ARHGEF16	1	3389659	Missense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09		3389659	245860962	1	33282											
PRAMEF13	400736	genome.wustl.edu	37	chr1	13448426	13448426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagatgagggtttcgagaGaggcagcaattttctctagc	11	10	12	8	1	1	3	0	1	1	2	3	5	1	3	1	2	2	3	1	2	3	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:13448426G>C	ENST00000376132.3	-	4	1151	c.1049C>G	c.(1048-1050)tCt>tGt	p.S350C		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	350					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)		GGTTTCGAGAGAGGCAGCAAT	0.552																																																	0													9	9	9					1																	13448426		2004	4139	6143	SO:0001583	missense	0					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.1049C>G	1.37:g.13448426G>C	ENSP00000365302:p.Ser350Cys			Missense_Mutation	SNP	NULL	p.S350C	ENST00000376132.3	37	c.1049	CCDS41257.1	1	.	.	.	.	.	.	.	.	.	.	G	7.992	0.753499	0.15778	.	.	ENSG00000204495	ENST00000376132	T	0.09630	2.96	1.2	1.2	0.21068	.	0.310944	0.29159	N	0.012966	T	0.11410	0.0278	L	0.27053	0.805	0.09310	N	1	B;P	0.35872	0.343;0.525	P;B	0.48524	0.58;0.305	T	0.11155	-1.0599	10	0.87932	D	0	.	5.7735	0.18267	0.0:0.0:1.0:0.0	.	350;350	Q5VWM6;A6NFR9	PRA13_HUMAN;.	C	350	ENSP00000365302:S350C	ENSP00000365302:S350C	S	-	2	0	PRAMEF13	13321013	0.017000	0.18338	0.007000	0.13788	0.022000	0.10575	1.418000	0.34782	0.947000	0.37659	0.298000	0.19748	TCT	PRAMEF13	-	NULL	ENSG00000204495		0.552	PRAMEF13-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	PRAMEF13	HGNC	protein_coding	OTTHUMT00000022040.1	-	0	38	0	G	XM_375688		13448426	-1	tier1	-	no_errors	ENST00000376132	ensembl	human	known	74_37	missense	55.00	9	11	SNP	0.009	C	C	13448426	G	C	13448426	3	2	130	1	0	0	0	0	1	0	0	0	12471	942	33	5	379	5	PRAMEF13	1	13448426	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	10058767	13448426	235802195	2	33283											
CELA2B	51032	genome.wustl.edu	37	chr1	15807634	15807634	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggccagtggtaccacacCtgcggagggtccctgatagc	9	7	13	12	1	0	1	0	1	0	0	1	2	1	2	4	4	3	1	4	4	3	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:15807634C>A	ENST00000375910.3	+	3	196	c.171C>A	c.(169-171)acC>acA	p.T57T	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	57	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GGTACCACACCTGCGGAGGGT	0.622																																																	0													129	113	118					1																	15807634		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.171C>A	1.37:g.15807634C>A			Q14D16|Q6ISM5|Q96QV5	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.T57	ENST00000375910.3	37	c.171	CCDS30605.1	1																																																																																			CELA2B	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000215704		0.622	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2B	HGNC	protein_coding	OTTHUMT00000006448.1		0	71	0	C	NM_015849		15807634	1			no_errors	ENST00000375910	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	A	A	15807634	C	A	15807634	2	1	130	1	0	0	0	0	0	0	0	1	3219	668	24	3		3	CELA2B	1	15807634	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	2359208	15807634	233442987	3	33284											
SPEN	23013	genome.wustl.edu	37	chr1	16256000	16256000	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagacctacaagcaagactgGgagaactagcaggtgaatct	15	6	11	9	0	1	4	0	1	1	3	1	5	1	4	1	2	4	2	1	2	6	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:16256000G>T	ENST00000375759.3	+	11	3469	c.3265G>T	c.(3265-3267)Gga>Tga	p.G1089*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1089					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)		AGCAAGACTGGGAGAACTAGC	0.473																																																	0													42	45	44					1																	16256000		2203	4300	6503	SO:0001587	stop_gained	0				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.3265G>T	1.37:g.16256000G>T	ENSP00000364912:p.Gly1089*		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.G1089*	ENST00000375759.3	37	c.3265	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.027491	0.98616	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.39	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-8.4227	10.7356	0.46122	0.1732:0.0:0.8268:0.0	.	.	.	.	X	1089	.	ENSP00000364912:G1089X	G	+	1	0	SPEN	16128587	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	6.034000	0.70933	1.403000	0.46800	0.650000	0.86243	GGA	SPEN	-	NULL	ENSG00000065526		0.473	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	-	0	34	0	G	NM_015001		16256000	1	tier1	-	no_errors	ENST00000375759	ensembl	human	known	74_37	nonsense	18.75	13	3	SNP	0.988	T	T	16256000	G	T	16256000	4	4	130	1	0	0	0	0	0	1	0	0	15085	1233	43	3	3307	3	SPEN	1	16256000	Nonsense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	448366	16256000	232994621	4	33285											
KIF17	57576	genome.wustl.edu	37	chr1	20998548	20998548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtagttacagtccctgcGaatcaggggctgcacctgct	7	10	12	12	1	1	0	1	0	0	0	2	1	2	0	2	2	4	6	2	2	3	2	rs141369367	byFrequency	TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:20998548G>T	ENST00000247986.2	-	12	2915	c.2605C>A	c.(2605-2607)Cgc>Agc	p.R869S	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Missense_Mutation_p.R869S|KIF17_ENST00000375044.1_Missense_Mutation_p.R769S			Q9P2E2	KIF17_HUMAN	kinesin family member 17	869					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)		CAGTCCCTGCGAATCAGGGGC	0.557																																																	0													91	84	87					1																	20998548		2203	4300	6503	SO:0001583	missense	0			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.2605C>A	1.37:g.20998548G>T	ENSP00000247986:p.Arg869Ser		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R869S	ENST00000247986.2	37	c.2605	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820860	0.90873	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.75050	-0.9;-0.76;-0.75	5.94	5.03	0.67393	.	0.000000	0.32901	U	0.005518	T	0.80717	0.4676	M	0.77616	2.38	0.36733	D	0.881797	P;P;P	0.51537	0.91;0.946;0.91	B;P;B	0.48795	0.385;0.59;0.385	D	0.86805	0.1994	10	0.72032	D	0.01	.	16.3632	0.83280	0.0:0.1318:0.8682:0.0	.	869;869;869	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	S	769;869;869;250	ENSP00000364184:R769S;ENSP00000383311:R869S;ENSP00000247986:R869S	ENSP00000247986:R869S	R	-	1	0	KIF17	20871135	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.995000	0.93534	1.512000	0.48834	0.561000	0.74099	CGC	KIF17	-	NULL	ENSG00000117245		0.557	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1		0	61	0	G	NM_020816		20998548	-1			no_errors	ENST00000247986	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	20998548	G	T	20998548	3	4	130	1	0	0	0	0	1	0	0	0	8306	1058	37	2	500	2	KIF17	1	20998548	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	4742548	20998548	228252073	5	33286											
ZNF436	80818	genome.wustl.edu	37	chr1	23689412	23689412	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgggtcttctgatgtcGattaaggtctgagatctgac	8	14	13	6	1	4	3	0	3	4	1	5	5	4	3	0	2	0	0	0	2	1	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:23689412G>T	ENST00000314011.4	-	4	599	c.463C>A	c.(463-465)Cga>Aga	p.R155R	ZNF436_ENST00000374608.3_Silent_p.R155R	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	155					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)		TTCTGATGTCGATTAAGGTCT	0.438																																																	0													103	91	95					1																	23689412		2203	4300	6503	SO:0001819	synonymous_variant	0			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.463C>A	1.37:g.23689412G>T			Q658I9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R155	ENST00000314011.4	37	c.463	CCDS233.1	1																																																																																			ZNF436	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125945		0.438	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF436	HGNC	protein_coding	OTTHUMT00000008908.1		0	55	0	G	NM_030634		23689412	-1			no_errors	ENST00000314011	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.001	T	T	23689412	G	T	23689412	2	4	130	1	0	0	0	0	0	0	0	1	17957	1066	37	2		2	ZNF436	1	23689412	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	2690864	23689412	225561209	6	33287											
DLGAP3	58512	genome.wustl.edu	37	chr1	35370962	35370962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggcggggatggctgcctCggtcgccatggtaacccctc	4	8	15	14	3	0	0	0	0	0	0	3	1	0	1	4	6	2	2	4	6	1	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:35370962C>T	ENST00000373347.1	-	3	291	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	DLGAP3_ENST00000495979.1_5'UTR|DLGAP3_ENST00000235180.4_Missense_Mutation_p.R8Q			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	8					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)				ATGGCTGCCTCGGTCGCCATG	0.612																																																	0																																										SO:0001583	missense	0			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.23G>A	1.37:g.35370962C>T	ENSP00000362444:p.Arg8Gln		Q5TDD5|Q9H3X7	Missense_Mutation	SNP	pfam_GKAP	p.R8Q	ENST00000373347.1	37	c.23	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	c	15.96	2.987911	0.53934	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.29917	1.55;1.55	4.49	3.51	0.40186	.	0.096989	0.41938	D	0.000782	T	0.26702	0.0653	M	0.68317	2.08	0.31043	N	0.716116	D	0.59357	0.985	B	0.34722	0.188	T	0.51044	-0.8755	10	0.87932	D	0	-3.2945	11.5417	0.50669	0.1784:0.8215:0.0:0.0	.	8	O95886	DLGP3_HUMAN	Q	8	ENSP00000362444:R8Q;ENSP00000235180:R8Q	ENSP00000235180:R8Q	R	-	2	0	DLGAP3	35143549	0.988000	0.35896	1.000000	0.80357	0.990000	0.78478	1.408000	0.34668	2.054000	0.61138	0.457000	0.33378	CGA	DLGAP3	-	NULL	ENSG00000116544		0.612	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	-	0	68	0	C	NM_021234		35370962	-1	tier1	-	no_errors	ENST00000235180	ensembl	human	known	74_37	missense	13.48	77	12	SNP	1.000	T	T	35370962	C	T	35370962	3	4	130	1	0	0	0	0	1	0	0	0	4575	884	31	1	2956	1	DLGAP3	1	35370962	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	11681550	35370962	213879659	7	33288											
GJA8	2703	genome.wustl.edu	37	chr1	147380384	147380384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacgcggtgcactacgtccGcatggaggagaagcgcaaaa	12	4	14	11	5	0	1	0	0	0	1	1	3	1	2	1	3	3	4	1	3	4	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:147380384G>T	ENST00000369235.1	+	1	302	c.302G>T	c.(301-303)cGc>cTc	p.R101L	GJA8_ENST00000240986.4_Missense_Mutation_p.R101L			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	101					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CACTACGTCCGCATGGAGGAG	0.662																																					Melanoma(76;1255 1795 8195 52096)												0													79	71	74					1																	147380384		2203	4300	6503	SO:0001583	missense	0			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.302G>T	1.37:g.147380384G>T	ENSP00000358238:p.Arg101Leu		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50	p.R101L	ENST00000369235.1	37	c.302	CCDS30834.1	1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.131788	0.77662	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99113	-5.44;-5.44	5.2	5.2	0.72013	Connexin, N-terminal (1);	0.053963	0.85682	D	0.000000	D	0.99309	0.9758	M	0.85945	2.785	0.53005	D	0.999968	D	0.69078	0.997	D	0.69142	0.962	D	0.99323	1.0907	10	0.72032	D	0.01	.	18.721	0.91692	0.0:0.0:1.0:0.0	.	101	P48165	CXA8_HUMAN	L	101	ENSP00000240986:R101L;ENSP00000358238:R101L	ENSP00000240986:R101L	R	+	2	0	GJA8	145847008	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.499000	0.81566	2.409000	0.81822	0.491000	0.48974	CGC	GJA8	-	pfam_Connexin_N	ENSG00000121634		0.662	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA8	HGNC	protein_coding	OTTHUMT00000060647.1	-	0	31	0	G	NM_005267		147380384	1	tier1	-	no_errors	ENST00000240986	ensembl	human	known	74_37	missense	52.78	16	19	SNP	1.000	T	T	147380384	G	T	147380384	3	4	130	1	0	0	0	0	1	0	0	0	6431	1087	38	2	304	2	GJA8	1	147380384	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	112009422	147380384	101870237	8	33289											
GON4L	54856	genome.wustl.edu	37	chr1	155735075	155735075	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctgaggttccttcatcagGgggctcttgagaagatgaag	9	10	13	9	0	3	4	2	3	1	2	4	5	4	4	2	3	0	2	2	3	2	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:155735075G>C	ENST00000368331.1	-	21	4237	c.4189C>G	c.(4189-4191)Cct>Gct	p.P1397A	GON4L_ENST00000271883.5_Missense_Mutation_p.P1397A|GON4L_ENST00000361040.5_Missense_Mutation_p.P1397A|GON4L_ENST00000437809.1_Missense_Mutation_p.P1397A|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)	1397					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P1397S(3)		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)					CCTTCATCAGGGGGCTCTTGA	0.488																																																	3	Substitution - Missense(3)	lung(3)											86	81	83					1																	155735075		2203	4300	6503	SO:0001583	missense	0			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.4189C>G	1.37:g.155735075G>C	ENSP00000357315:p.Pro1397Ala		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.P1397A	ENST00000368331.1	37	c.4189		1	.	.	.	.	.	.	.	.	.	.	G	7.313	0.615422	0.14129	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.11712	2.96;2.96;2.96;2.75	4.64	-0.915	0.10494	.	0.669254	0.13548	N	0.379685	T	0.01627	0.0052	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.47837	-0.9086	10	0.15066	T	0.55	.	6.6908	0.23169	0.0678:0.3497:0.4623:0.1202	.	1397;593;1397;1397	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	A	1397	ENSP00000396117:P1397A;ENSP00000357315:P1397A;ENSP00000271883:P1397A;ENSP00000354322:P1397A	ENSP00000271883:P1397A	P	-	1	0	GON4L	154001699	0.001000	0.12720	0.001000	0.08648	0.036000	0.12997	-1.088000	0.03379	-0.333000	0.08476	0.650000	0.86243	CCT	GON4L	-	NULL	ENSG00000116580		0.488	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding			0	40	0	G	NM_032292		155735075	-1			no_errors	ENST00000368331	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.003	C	C	155735075	G	C	155735075	3	2	130	1	0	0	0	0	1	0	0	0	6598	1232	43	5	2698	5	GON4L	1	155735075	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	8354691	155735075	93515546	9	33290											
TTC24	164118	genome.wustl.edu	37	chr1	156551465	156551465	+	Silent	SNP	G	G	A	0	0	1	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	agaggccttgagctactcctGcgagcccaccctgaagagaa	11	6	11	13	1	0	4	0	2	0	2	1	6	1	4	4	1	4	1	4	1	3	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:156551465G>A	ENST00000368237.3	+	1	309	c.309G>A	c.(307-309)ctG>ctA	p.L103L	TTC24_ENST00000368236.3_Silent_p.L103L			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	103										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)					AGCTACTCCTGCGAGCCCACC	0.622																																																	0													36	43	41					1																	156551465		692	1591	2283	SO:0001819	synonymous_variant	0				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.309G>A	1.37:g.156551465G>A			Q5T3H7	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L103	ENST00000368237.3	37	c.309	CCDS53379.1	1																																																																																			TTC24	-	pfscan_TPR-contain_dom	ENSG00000187862		0.622	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC24	HGNC	protein_coding	OTTHUMT00000158547.1		0	74	0	G	XM_089384		156551465	1			no_errors	ENST00000368236	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.032	A	A	156551465	G	A	156551465	2	1	130	1	0	0	0	0	0	0	0	1	16741	1306	46	3		3	TTC24	1	156551465	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	816390	156551465	92699156	10	33291											
OR6K6	128371	genome.wustl.edu	37	chr1	158725227	158725227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatccaccagatattctgtGatttcacacctgtgctgagc	10	12	8	11	0	2	4	1	2	1	2	3	4	3	4	3	0	2	1	3	0	1	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:158725227G>A	ENST00000368144.2	+	1	718	c.622G>A	c.(622-624)Gat>Aat	p.D208N		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	208						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)					GATATTCTGTGATTTCACACC	0.498																																																	0													119	101	107					1																	158725227		2203	4300	6503	SO:0001583	missense	0			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.622G>A	1.37:g.158725227G>A	ENSP00000357126:p.Asp208Asn		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D208N	ENST00000368144.2	37	c.622	CCDS30904.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494451	0.85069	.	.	ENSG00000180433	ENST00000368144	T	0.00188	8.59	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000295	T	0.00496	0.0016	M	0.90019	3.08	0.42735	D	0.993726	D	0.89917	1.0	D	0.97110	1.0	T	0.70436	-0.4872	10	0.87932	D	0	-17.09	18.27	0.90065	0.0:0.0:1.0:0.0	.	208	Q8NGW6	OR6K6_HUMAN	N	208	ENSP00000357126:D208N	ENSP00000357126:D208N	D	+	1	0	OR6K6	156991851	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.291000	0.65667	2.848000	0.98002	0.655000	0.94253	GAT	OR6K6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000180433		0.498	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	-	0	26	0	G	NM_001005184		158725227	1	tier1	-	no_errors	ENST00000368144	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	A	A	158725227	G	A	158725227	3	1	130	1	0	0	0	0	1	0	0	0	11243	1290	45	3	624	3	OR6K6	1	158725227	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	2173762	158725227	90525394	11	33292											
DCAF8	50717	genome.wustl.edu	37	chr1	160201124	160201124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacccactgcaaactggtGggtattggcaggattcacat	10	10	10	11	0	1	0	1	0	0	0	2	1	2	1	2	4	2	3	2	4	2	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:160201124G>T	ENST00000368073.3	-	7	1467	c.1033C>A	c.(1033-1035)Cac>Aac	p.H345N	DCAF8_ENST00000608310.1_Missense_Mutation_p.H499N|DCAF8_ENST00000556710.1_Missense_Mutation_p.H499N|DCAF8_ENST00000368074.1_Missense_Mutation_p.H345N|DCAF8_ENST00000326837.2_Missense_Mutation_p.H345N			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	345					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						GCAAACTGGTGGGTATTGGCA	0.423																																																	0													263	236	245					1																	160201124		2203	4300	6503	SO:0001583	missense	0			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.1033C>A	1.37:g.160201124G>T	ENSP00000357052:p.His345Asn		D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H499N	ENST00000368073.3	37	c.1495	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882134	0.33255	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	4.73	4.73	0.59995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.147474	0.44285	U	0.000470	T	0.44222	0.1283	N	0.08118	0	0.50313	D	0.999863	P;B	0.36535	0.557;0.006	B;B	0.32864	0.154;0.002	T	0.52495	-0.8568	10	0.22109	T	0.4	-7.9133	10.2627	0.43436	0.0924:0.0:0.9076:0.0	.	499;345	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	N	345;345;345;499;326;499	ENSP00000357052:H345N;ENSP00000318227:H345N;ENSP00000357053:H345N;ENSP00000451989:H499N;ENSP00000451235:H499N	ENSP00000318227:H345N	H	-	1	0	RP11-574F21.3;DCAF8	158467748	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.927000	0.70080	2.457000	0.83068	0.591000	0.81541	CAC	DCAF8	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000132716		0.423	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000077402.2		0	99	0	G	NM_015726		160201124	-1			no_errors	ENST00000608310	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	160201124	G	T	160201124	3	4	130	1	0	0	0	0	1	0	0	0	4285	1348	47	3	792	3	DCAF8	1	160201124	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	1475897	160201124	89049497	12	33293											
PAPPA2	60676	genome.wustl.edu	37	chr1	176659289	176659289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaggtggcattgtcctcagCccagcatattatgggatgcc	8	10	12	11	0	1	0	1	0	0	0	2	1	2	1	3	3	3	3	3	3	2	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:176659289C>A	ENST00000367662.3	+	5	3318	c.2154C>A	c.(2152-2154)agC>agA	p.S718R	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S718R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	718	Metalloprotease.				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						TTGTCCTCAGCCCAGCATATT	0.433																																																	0													104	98	100					1																	176659289		2055	4236	6291	SO:0001583	missense	0			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.2154C>A	1.37:g.176659289C>A	ENSP00000356634:p.Ser718Arg		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.S718R	ENST00000367662.3	37	c.2154	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	7.527	0.657837	0.14645	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.79653	-1.29;1.56	5.23	2.35	0.29111	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.143954	0.64402	D	0.000011	T	0.63698	0.2533	N	0.16708	0.43	0.32331	N	0.561051	B;B	0.28783	0.006;0.222	B;B	0.24394	0.016;0.053	T	0.63355	-0.6656	10	0.51188	T	0.08	-19.949	9.1527	0.36973	0.0:0.6986:0.0:0.3014	.	718;718	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	R	718	ENSP00000356634:S718R;ENSP00000356633:S718R	ENSP00000356633:S718R	S	+	3	2	PAPPA2	174925912	0.683000	0.27633	0.985000	0.45067	0.066000	0.16364	-0.091000	0.11146	0.216000	0.20781	0.563000	0.77884	AGC	PAPPA2	-	pfam_Peptidase_M43	ENSG00000116183		0.433	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	39	0	C			176659289	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	A	A	176659289	C	A	176659289	3	1	130	1	0	0	0	0	1	0	0	0	11472	738	26	3	2168	3	PAPPA2	1	176659289	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	16458165	176659289	72591332	13	33294											
RNPEP	6051	genome.wustl.edu	37	chr1	201966644	201966644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggctcaatgaaggtttcaCcatgtacgcccagaggagga	11	8	12	10	1	2	2	2	1	0	1	2	4	2	4	2	4	1	3	2	4	3	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:201966644C>T	ENST00000295640.4	+	5	1095	c.1052C>T	c.(1051-1053)aCc>aTc	p.T351I	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.5_ENST00000608886.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.T312I	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	351					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)		GAAGGTTTCACCATGTACGCC	0.532																																					GBM(19;39 479 7473 13131 19462)												0													96	83	88					1																	201966644		2203	4300	6503	SO:0001583	missense	0			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.1052C>T	1.37:g.201966644C>T	ENSP00000295640:p.Thr351Ile		Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.T351I	ENST00000295640.4	37	c.1052	CCDS1418.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882492	0.91740	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312;ENST00000449524	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	5.1	5.1	0.69264	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	M	0.93978	3.48	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79108	0.992;0.992	T	0.56062	-0.8041	10	0.87932	D	0	-30.2658	17.2948	0.87168	0.0:1.0:0.0:0.0	.	359;351	Q7RU04;Q9H4A4	.;AMPB_HUMAN	I	351;312;220;97	ENSP00000295640:T351I;ENSP00000356255:T312I;ENSP00000389602:T220I;ENSP00000407614:T97I	ENSP00000295640:T351I	T	+	2	0	RNPEP	200233267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.306000	0.78905	2.361000	0.80049	0.643000	0.83706	ACC	RNPEP	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000176393		0.532	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNPEP	HGNC	protein_coding	OTTHUMT00000087345.1	-	0	66	0	C	NM_020216		201966644	1	tier1	-	no_errors	ENST00000295640	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	201966644	C	T	201966644	3	4	130	1	0	0	0	0	1	0	0	0	13554	507	18	3	1070	3	RNPEP	1	201966644	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	25307355	201966644	47283977	14	33295											
MYBPH	4608	genome.wustl.edu	37	chr1	203144850	203144850	+	Missense_Mutation	SNP	A	A	T	1	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	tgcggtctcctctggactgcAggcagggccctcggaggtgt	4	9	16	12	2	2	0	0	0	2	0	4	2	2	2	2	6	2	2	2	6	0	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:203144850A>T	ENST00000255416.4	-	1	91	c.34T>A	c.(34-36)Tgc>Agc	p.C12S		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	12					cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TCTGGACTGCAGGCAGGGCCC	0.627																																					NSCLC(32;174 1025 14462 23899 42933)												0													66	76	73					1																	203144850		2203	4300	6503	SO:0001583	missense	0			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7552	protein-coding gene	gene with protein product		160795	"myosin-binding protein H"			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.34T>A	1.37:g.203144850A>T	ENSP00000255416:p.Cys12Ser		Q16886|Q86YC5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C12S	ENST00000255416.4	37	c.34	CCDS30975.1	1	.	.	.	.	.	.	.	.	.	.	A	1.748	-0.490073	0.04322	.	.	ENSG00000133055	ENST00000255416	T	0.44083	0.93	4.9	-0.349	0.12609	.	1.034180	0.07718	N	0.943211	T	0.21062	0.0507	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25293	-1.0136	10	0.06099	T	0.92	.	4.7559	0.13085	0.4827:0.3341:0.1831:0.0	.	12	Q13203	MYBPH_HUMAN	S	12	ENSP00000255416:C12S	ENSP00000255416:C12S	C	-	1	0	MYBPH	201411473	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-0.435000	0.06931	-0.054000	0.13266	0.379000	0.24179	TGC	MYBPH	-	NULL	ENSG00000133055		0.627	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPH	HGNC	protein_coding	OTTHUMT00000100264.1	-	0	100	0	A	NM_004997		203144850	-1	tier1	-	no_errors	ENST00000255416	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.000	T	T	203144850	A	T	203144850	3	4	130	1	0	0	0	0	1	0	0	0	10052	188	7	5	1439	5	MYBPH	1	203144850	Missense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	1178206	203144850	46105771	15	33296											
NEK2	4751	genome.wustl.edu	37	chr1	211846999	211846999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaccatcacttcgtctgtgGcattccttcagggccagagt	7	11	9	14	1	3	1	2	0	1	1	5	1	4	1	4	2	0	1	4	2	0	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:211846999G>A	ENST00000366999.4	-	3	519	c.381C>T	c.(379-381)tgC>tgT	p.C127C	NEK2_ENST00000462283.1_5'Flank|NEK2_ENST00000366998.3_Silent_p.C127C|RP11-122M14.1_ENST00000415202.1_RNA|NEK2_ENST00000540251.1_Silent_p.C84C	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTCGTCTGTGGCATTCCTTCA	0.443																																																	0													99	83	89					1																	211846999		2203	4300	6503	SO:0001819	synonymous_variant	0			U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"HsPK 21", "protein phosphatase 1, regulatory subunit 111"	604043	"NIMA (never in mitosis gene a)-related kinase 2"			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.381C>T	1.37:g.211846999G>A			Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.C84	ENST00000366999.4	37	c.252	CCDS1500.1	1																																																																																			NEK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000117650		0.443	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NEK2	HGNC	protein_coding	OTTHUMT00000090154.1		0	52	0	G	NM_002497		211846999	-1			no_errors	ENST00000540251	ensembl	human	known	74_37	silent	8.00	45	4	SNP	1.000	A	A	211846999	G	A	211846999	2	1	130	1	0	0	0	0	0	0	0	1	10363	1195	42	3		3	NEK2	1	211846999	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	8702149	211846999	37403622	16	33297											
HHIPL2	79802	genome.wustl.edu	37	chr1	222713615	222713615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggattgtccgaggggactCggtaccgcttgccatgtgag	7	10	15	9	3	0	1	0	1	0	0	2	4	1	3	3	4	2	2	3	4	1	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:222713615C>A	ENST00000343410.6	-	4	1245	c.1187G>T	c.(1186-1188)cGa>cTa	p.R396L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	396					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)		CGAGGGGACTCGGTACCGCTT	0.542																																																	0													73	69	71					1																	222713615		2203	4300	6503	SO:0001583	missense	0			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.1187G>T	1.37:g.222713615C>A	ENSP00000342118:p.Arg396Leu		Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.R396L	ENST00000343410.6	37	c.1187	CCDS1530.2	1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225894	0.58668	.	.	ENSG00000143512	ENST00000343410	T	0.11712	2.75	4.95	4.04	0.47022	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.211701	0.40554	N	0.001068	T	0.22044	0.0531	L	0.58669	1.825	0.38868	D	0.956634	P	0.51147	0.942	P	0.56088	0.791	T	0.01824	-1.1266	10	0.37606	T	0.19	-5.2665	12.7244	0.57162	0.0:0.9191:0.0:0.0809	.	396	Q6UWX4	HIPL2_HUMAN	L	396	ENSP00000342118:R396L	ENSP00000342118:R396L	R	-	2	0	HHIPL2	220780238	0.763000	0.28462	0.933000	0.37362	0.650000	0.38633	1.408000	0.34668	1.058000	0.40530	0.313000	0.20887	CGA	HHIPL2	-	superfamily_Quinoprot_gluc/sorb_DH	ENSG00000143512		0.542	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	-	0	87	0	C	NM_024746		222713615	-1	tier1	-	no_errors	ENST00000343410	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	A	A	222713615	C	A	222713615	3	1	130	1	0	0	0	0	1	0	0	0	7121	884	31	2	1011	2	HHIPL2	1	222713615	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	10866616	222713615	26537006	17	33298											
TP53BP2	7159	genome.wustl.edu	37	chr1	223976780	223976780	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttatctgcagcagtctgcatGtcactgtaggtcatggcaaa	10	12	10	9	0	4	0	2	0	2	0	4	0	4	0	0	2	3	5	0	2	3	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:223976780G>T	ENST00000343537.7	-	16	3384	c.3093C>A	c.(3091-3093)gaC>gaA	p.D1031E	TP53BP2_ENST00000391878.2_Missense_Mutation_p.D902E|TP53BP2_ENST00000391879.2_Missense_Mutation_p.D264E|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	1025	Mediates interaction with APC2.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CAGTCTGCATGTCACTGTAGG	0.453																																																	0													211	181	191					1																	223976780		2203	4300	6503	SO:0001583	missense	0			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.3093C>A	1.37:g.223976780G>T	ENSP00000341957:p.Asp1031Glu		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.D1031E	ENST00000343537.7	37	c.3093	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776103	0.90195	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.54866	0.64;0.82;0.55	5.74	3.85	0.44370	Src homology-3 domain (1);Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	M	0.75615	2.305	0.80722	D	1	D;P	0.65815	0.995;0.944	D;D	0.72625	0.978;0.944	T	0.70920	-0.4741	10	0.66056	D	0.02	.	11.2441	0.48987	0.1717:0.0:0.8283:0.0	.	1031;1025	B4DG66;Q13625	.;ASPP2_HUMAN	E	902;1031;264	ENSP00000375750:D902E;ENSP00000341957:D1031E;ENSP00000375751:D264E	ENSP00000341957:D1031E	D	-	3	2	TP53BP2	222043403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.546000	0.53656	2.716000	0.92895	0.591000	0.81541	GAC	TP53BP2	-	superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain	ENSG00000143514		0.453	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	HGNC	protein_coding	OTTHUMT00000090985.3	-	0	84	0	G	NM_001031685, NM_005426		223976780	-1	tier1	-	no_errors	ENST00000343537	ensembl	human	known	74_37	missense	8.33	66	6	SNP	1.000	T	T	223976780	G	T	223976780	3	4	130	1	0	0	0	0	1	0	0	0	16432	1368	48	3	323	3	TP53BP2	1	223976780	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	1263165	223976780	25273841	18	33299											
TSNAX	7257	genome.wustl.edu	37	chr1	231672957	231672957	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgatcataatgtgtttttAgcatttcagcaggaacttga	12	16	8	5	0	2	2	2	2	0	0	2	3	2	3	0	1	3	3	0	1	4	7			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr1:231672957A>G	ENST00000366639.4	+	3	279		c.e3-1		TSNAX-DISC1_ENST00000602962.1_Splice_Site|TSNAX_ENST00000602825.1_Splice_Site	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				ATGTGTTTTTAGCATTTCAGC	0.368																																																	0													99	98	99					1																	231672957		2203	4300	6503	SO:0001630	splice_region_variant	0			X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.122-1A>G	1.37:g.231672957A>G			B1APC6	Splice_Site	SNP	-	e3-2	ENST00000366639.4	37	c.122-2	CCDS1596.1	1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893582	0.72639	.	.	ENSG00000116918	ENST00000366639;ENST00000413309	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3897	0.74731	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSNAX	229739580	1.000000	0.71417	0.991000	0.47740	0.886000	0.51366	8.657000	0.91106	2.087000	0.62958	0.460000	0.39030	.	TSNAX	-	-	ENSG00000116918		0.368	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAX	HGNC	protein_coding	OTTHUMT00000095267.2	-	0	90	0	A	NM_005999	Intron	231672957	1	tier1	-	no_errors	ENST00000366639	ensembl	human	known	74_37	splice_site	5.88	64	4	SNP	1.000	G	G	231672957	A	G	231672957	5	3	130	1	0	0	0	0	0	0	1	0	16679	434	15	4	130	4	TSNAX	1	231672957	Splice_Site	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	7696177	231672957	17577664	19	33300											
FAM49A	81553	genome.wustl.edu	37	chr2	16745363	16745363	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgggattttgaattgcCtgcaaaaacacagtagagct	13	12	9	7	0	1	2	1	1	0	1	1	3	1	3	1	1	4	3	1	1	4	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:16745363C>A	ENST00000381323.3	-	5	413		c.e5-1		FAM49A_ENST00000406434.1_Splice_Site|FAM49A_ENST00000355549.2_Splice_Site	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A							intracellular (GO:0005622)		p.?(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTTGAATTGCCTGCAAAAACA	0.373																																																	1	Unknown(1)	skin(1)											79	74	76					2																	16745363		2203	4300	6503	SO:0001630	splice_region_variant	0			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.193-1G>T	2.37:g.16745363C>A			B3KNZ1|Q53QW2	Splice_Site	SNP	-	e3-1	ENST00000381323.3	37	c.193-1	CCDS1688.1	2	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912037	0.72983	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549;ENST00000445605;ENST00000451689	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.319	0.94229	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM49A	16608844	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	7.564000	0.82326	2.894000	0.99253	0.655000	0.94253	.	FAM49A	-	-	ENSG00000197872		0.373	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49A	HGNC	protein_coding	OTTHUMT00000207203.2		0	69	0	C	NM_030797	Intron	16745363	-1			no_errors	ENST00000355549	ensembl	human	known	74_37	splice_site	5.71	33	2	SNP	1.000	A	A	16745363	C	A	16745363	5	1	130	1	0	0	0	0	0	0	1	0	5597	695	24	3	811	3	FAM49A	2	16745363	Splice_Site	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09		16745363	226454010	20	33301											
FAM161A	84140	genome.wustl.edu	37	chr2	62080999	62080999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgccccagtattaccgatgCcccagcgggctgagccactt	7	7	10	17	3	0	1	0	1	0	0	0	2	0	1	7	1	4	2	7	1	2	3	rs561436916		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:62080999C>T	ENST00000405894.3	-	1	279	c.178G>A	c.(178-180)Gca>Aca	p.A60T	FAM161A_ENST00000404929.1_Missense_Mutation_p.A60T	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	60					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						ATTACCGATGCCCCAGCGGGC	0.667																																																	0													41	42	41					2																	62080999		1568	3582	5150	SO:0001583	missense	0				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.178G>A	2.37:g.62080999C>T	ENSP00000385893:p.Ala60Thr		B4DJV7|Q9H8R2	Missense_Mutation	SNP	pfam_UPF0564	p.A60T	ENST00000405894.3	37	c.178	CCDS42687.2	2	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013987	0.54468	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.63096	-0.02;-0.02	4.17	2.33	0.28932	.	.	.	.	.	T	0.37598	0.1009	N	0.08118	0	0.09310	N	1	B;P	0.35107	0.352;0.484	B;B	0.33254	0.077;0.16	T	0.26677	-1.0096	9	0.87932	D	0	.	5.2186	0.15356	0.201:0.694:0.0:0.1051	.	60;60	Q3B820;Q3B820-3	F161A_HUMAN;.	T	60	ENSP00000385158:A60T;ENSP00000385893:A60T	ENSP00000303170:A60T	A	-	1	0	FAM161A	61934503	0.852000	0.29690	0.057000	0.19452	0.028000	0.11728	1.818000	0.39012	0.679000	0.31345	-0.150000	0.13652	GCA	FAM161A	-	NULL	ENSG00000170264		0.667	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM161A	HGNC	protein_coding	OTTHUMT00000325537.2		0	91	0	C	NM_032180		62080999	-1			no_errors	ENST00000405894	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.060	T	T	62080999	C	T	62080999	3	4	130	1	0	0	0	0	1	0	0	0	5491	739	26	3	1828	3	FAM161A	2	62080999	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	45335636	62080999	181118374	21	33302											
SFXN5	94097	genome.wustl.edu	37	chr2	73268006	73268006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcattggtgacccccgggcGcagggtcccatgcttatagt	6	11	12	12	2	1	1	1	1	0	0	2	1	2	1	3	3	1	2	3	3	2	4	rs372326606		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:73268006G>A	ENST00000272433.2	-	3	356	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Missense_Mutation_p.R76C	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	76					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)	p.R76C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACCCCCGGGCGCAGGGTCCCA	0.557																																																	1	Substitution - Missense(1)	ovary(1)						G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	45	44	45		226	5.4	1	2		45	0,8600		0,0,4300	no	missense	SFXN5	NM_144579.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	76/341	73268006	1,13005	2203	4300	6503	SO:0001583	missense	0			AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"Sideroflexins"	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.226C>T	2.37:g.73268006G>A	ENSP00000272433:p.Arg76Cys		A8K116|Q494Y3|Q53T29	Missense_Mutation	SNP	pfam_Mtc,tigrfam_Mtc	p.R76C	ENST00000272433.2	37	c.226	CCDS1922.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.80|16.80	3.222745|3.222745	0.58668|0.58668	2.27E-4|2.27E-4	0.0|0.0	ENSG00000144040|ENSG00000144040	ENST00000411783|ENST00000272433;ENST00000410065;ENST00000442582	.|T;T;T	.|0.30714	.|1.52;1.52;1.52	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.152130	.|0.64402	.|D	.|0.000017	T|T	0.40645|0.40645	0.1125|0.1125	L|L	0.38175|0.38175	1.15|1.15	0.46874|0.46874	D|D	0.99923|0.99923	.|D;P	.|0.64830	.|0.994;0.883	.|P;B	.|0.57548	.|0.823;0.139	T|T	0.13710|0.13710	-1.0499|-1.0499	5|10	.|0.59425	.|D	.|0.04	-0.9481|-0.9481	14.9562|14.9562	0.71116|0.71116	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|76;76	.|B8ZZJ6;Q8TD22	.|.;SFXN5_HUMAN	V|C	65|76	.|ENSP00000272433:R76C;ENSP00000387076:R76C;ENSP00000396825:R76C	.|ENSP00000272433:R76C	A|R	-|-	2|1	0|0	SFXN5|SFXN5	73121514|73121514	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.870000|0.870000	0.49936|0.49936	4.002000|4.002000	0.57053|0.57053	2.698000|2.698000	0.92095|0.92095	0.655000|0.655000	0.94253|0.94253	GCG|CGC	SFXN5	-	pfam_Mtc,tigrfam_Mtc	ENSG00000144040		0.557	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN5	HGNC	protein_coding	OTTHUMT00000251991.1		0	44	0	G	NM_144579		73268006	-1			no_errors	ENST00000272433	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.998	A	A	73268006	G	A	73268006	3	1	130	1	0	0	0	0	1	0	0	0	14243	1087	38	1	844	1	SFXN5	2	73268006	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	11187007	73268006	169931367	22	33303											
DNAH6	1768	genome.wustl.edu	37	chr2	85046517	85046517	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagggatcagctttgctctgCcagctgagcgaatgaaaagg	12	8	13	8	1	2	2	1	2	1	0	2	4	2	3	1	2	5	3	1	2	4	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:85046517C>T	ENST00000237449.6	+	76	12470	c.12462C>T	c.(12460-12462)tgC>tgT	p.C4154C	TRABD2A_ENST00000479944.1_5'Flank|DNAH6_ENST00000389394.3_Silent_p.C4154C			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	4154					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						CTTTGCTCTGCCAGCTGAGCG	0.453																																																	0													101	92	95					2																	85046517		692	1591	2283	SO:0001819	synonymous_variant	0			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.12462C>T	2.37:g.85046517C>T			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.C4154	ENST00000237449.6	37	c.12462	CCDS46348.1	2																																																																																			DNAH6	-	pfam_Dynein_heavy_dom	ENSG00000115423		0.453	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0	70	0	C	NM_001370		85046517	1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	85046517	C	T	85046517	2	4	130	1	0	0	0	0	0	0	0	1	4619	747	26	3		3	DNAH6	2	85046517	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	11778511	85046517	158152856	23	33304											
GGCX	2677	genome.wustl.edu	37	chr2	85778646	85778646	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gagtctggttcttctgttctGccacaagctccacagtcact	7	13	8	13	0	5	0	1	0	4	0	6	1	6	0	2	1	2	3	2	1	1	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:85778646G>A	ENST00000233838.4	-	12	1777	c.1697C>T	c.(1696-1698)gCa>gTa	p.A566V	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Missense_Mutation_p.A509V	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	566					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	CTTCTGTTCTGCCACAAGCTC	0.498																																																	0													128	126	127					2																	85778646		2203	4300	6503	SO:0001583	missense	0				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1697C>T	2.37:g.85778646G>A	ENSP00000233838:p.Ala566Val		B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM	p.A566V	ENST00000233838.4	37	c.1697	CCDS1978.1	2	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282340	0.40394	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.85955	-2.05;-2.05	5.87	5.87	0.94306	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.163866	0.53938	D	0.000047	T	0.72211	0.3432	N	0.19112	0.55	0.37114	D	0.900506	P;P;P	0.40000	0.698;0.454;0.531	B;B;B	0.32211	0.142;0.105;0.093	T	0.75969	-0.3130	10	0.33141	T	0.24	-7.1374	12.9508	0.58399	0.0:0.0:0.8383:0.1617	.	509;382;566	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	V	566;509	ENSP00000233838:A566V;ENSP00000408045:A509V	ENSP00000233838:A566V	A	-	2	0	GGCX	85632157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.139000	0.64801	2.941000	0.99782	0.655000	0.94253	GCA	GGCX	-	superfamily_RmlC_Cupin	ENSG00000115486		0.498	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	HGNC	protein_coding	OTTHUMT00000252490.3	-	0	64	0	G	NM_000821		85778646	-1	tier1	-	no_errors	ENST00000233838	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	A	A	85778646	G	A	85778646	3	1	130	1	0	0	0	0	1	0	0	0	6382	1319	46	3	595	3	GGCX	2	85778646	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	732129	85778646	157420727	24	33305											
PTPN4	5775	genome.wustl.edu	37	chr2	120709667	120709667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaaagctagttgtgagaGacattctggggaactcatgc	12	12	11	6	0	2	2	1	1	1	1	2	4	2	3	0	2	3	2	0	2	5	5	rs549949257		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:120709667G>T	ENST00000263708.2	+	19	2546	c.1775G>T	c.(1774-1776)aGa>aTa	p.R592I	PTPN4_ENST00000544261.1_Missense_Mutation_p.R225I	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	592					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGTTGTGAGAGACATTCTGGG	0.398																																																	0													170	159	162					2																	120709667		2203	4300	6503	SO:0001583	missense	0				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1775G>T	2.37:g.120709667G>T	ENSP00000263708:p.Arg592Ile		B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R592I	ENST00000263708.2	37	c.1775	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127008	0.56721	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.72725	-0.68;2.87	6.07	2.23	0.28157	PDZ/DHR/GLGF (3);	0.157318	0.64402	D	0.000001	T	0.56470	0.1987	N	0.20685	0.6	0.45318	D	0.998312	P	0.38863	0.65	B	0.41691	0.364	T	0.53975	-0.8362	10	0.59425	D	0.04	.	9.5864	0.39519	0.1205:0.2184:0.6611:0.0	.	592	P29074	PTN4_HUMAN	I	592;225	ENSP00000263708:R592I;ENSP00000445841:R225I	ENSP00000263708:R592I	R	+	2	0	PTPN4	120426137	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.120000	0.31271	0.132000	0.18615	0.655000	0.94253	AGA	PTPN4	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Tyr_Pase_non-rcpt_typ-3/4	ENSG00000088179		0.398	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	-	0	78	0	G			120709667	1	tier1	-	no_errors	ENST00000263708	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	120709667	G	T	120709667	3	4	130	1	0	0	0	0	1	0	0	0	12835	942	33	3	1845	3	PTPN4	2	120709667	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	34931021	120709667	122489706	25	33306											
ERCC3	2071	genome.wustl.edu	37	chr2	128036799	128036799	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacacattgtcagcaaaGacaataatcttgtcattcct	15	11	5	10	0	3	1	2	0	1	1	4	1	4	1	1	0	2	2	1	0	4	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:128036799G>T	ENST00000285398.2	-	10	1774	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V	ERCC3_ENST00000493187.2_Silent_p.V496V	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	560	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|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)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTCAGCAAAGACAATAATCT	0.413			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"		E	0													134	119	124					2																	128036799		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1680C>A	2.37:g.128036799G>T			Q53QM0	Silent	SNP	pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3	p.V560	ENST00000285398.2	37	c.1680	CCDS2144.1	2																																																																																			ERCC3	-	superfamily_P-loop_NTPase,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3	ENSG00000163161		0.413	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC3	HGNC	protein_coding	OTTHUMT00000331028.1	-	0	103	0	G	NM_000122		128036799	-1	tier1	-	no_errors	ENST00000285398	ensembl	human	known	74_37	silent	34.62	34	18	SNP	0.849	T	T	128036799	G	T	128036799	2	4	130	1	0	0	0	0	0	0	0	1	5230	929	33	3		3	ERCC3	2	128036799	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	7327132	128036799	115162574	26	33307											
AMMECR1L	83607	genome.wustl.edu	37	chr2	128624513	128624513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaattcactggtaattGgagctttaaagccacctttc	10	15	7	9	0	2	1	1	1	1	0	3	2	2	2	2	2	2	2	2	2	4	7			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:128624513G>A	ENST00000272647.5	-	7	1042	c.782C>T	c.(781-783)cCa>cTa	p.P261L	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.P261L	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	261	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		ACTGGTAATTGGAGCTTTAAA	0.433																																																	0													149	142	144					2																	128624513		2203	4300	6503	SO:0001583	missense	0				CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"AMME chromosomal region gene 1-like"				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.782C>T	2.37:g.128624513G>A	ENSP00000272647:p.Pro261Leu		B4E276	Missense_Mutation	SNP	pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1	p.P261L	ENST00000272647.5	37	c.782	CCDS2152.1	2	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883786	0.51908	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.33	5.33	0.75918	AMMECR1 domain (2);	0.080070	0.53938	N	0.000060	T	0.52041	0.1710	N	0.22421	0.69	0.80722	D	1	B	0.18166	0.026	B	0.21708	0.036	T	0.43621	-0.9380	9	0.32370	T	0.25	-28.6285	19.0547	0.93058	0.0:0.0:1.0:0.0	.	261	Q6DCA0	AMERL_HUMAN	L	261	.	ENSP00000272647:P261L	P	-	2	0	AMMECR1L	128340983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.480000	0.83734	0.650000	0.86243	CCA	AMMECR1L	-	pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1	ENSG00000144233		0.433	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMMECR1L	HGNC	protein_coding	OTTHUMT00000254392.1		0	107	0	G	NM_031445		128624513	-1			no_errors	ENST00000272647	ensembl	human	known	74_37	missense	6.49	71	5	SNP	1.000	A	A	128624513	G	A	128624513	3	1	130	1	0	0	0	0	1	0	0	0	579	1348	47	3	158	3	AMMECR1L	2	128624513	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	587714	128624513	114574860	27	33308											
TBR1	10716	genome.wustl.edu	37	chr2	162280507	162280507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgaggacgccaagccCaaggacctgtccgattccag	9	4	12	16	4	0	0	0	0	0	0	2	4	2	2	7	2	1	0	7	2	2	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:162280507C>T	ENST00000389554.3	+	6	2135	c.1818C>T	c.(1816-1818)ccC>ccT	p.P606P	AC009487.4_ENST00000437683.1_RNA|AC009487.4_ENST00000444164.1_RNA|AC009487.5_ENST00000505579.1_RNA|TBR1_ENST00000410035.1_Silent_p.P319P	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	606					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACGCCAAGCCCAAGGACCTGT	0.711																																																	0													10	11	11					2																	162280507		2173	4269	6442	SO:0001819	synonymous_variant	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1818C>T	2.37:g.162280507C>T			B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.P606	ENST00000389554.3	37	c.1818	CCDS33310.1	2																																																																																			TBR1	-	NULL	ENSG00000136535		0.711	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	-	0	17	0	C	NM_006593		162280507	1	tier1	-	no_errors	ENST00000389554	ensembl	human	known	74_37	silent	36.84	12	7	SNP	1.000	T	T	162280507	C	T	162280507	2	4	130	1	0	0	0	0	0	0	0	1	15694	581	21	3		3	TBR1	2	162280507	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	33655994	162280507	80918866	28	33309											
KCNH7	90134	genome.wustl.edu	37	chr2	163253371	163253371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gctgaatcttatgcaagtcaCagtatgtgagggctcttaca	11	12	10	8	0	3	2	1	2	2	0	3	2	3	2	0	1	2	4	0	1	5	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:163253371C>T	ENST00000332142.5	-	11	2591	c.2492G>A	c.(2491-2493)tGt>tAt	p.C831Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	831					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATGCAAGTCACAGTATGTGAG	0.353																																					GBM(196;1492 2208 17507 24132 45496)												0													89	89	89					2																	163253371		2203	4300	6503	SO:0001583	missense	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2492G>A	2.37:g.163253371C>T	ENSP00000331727:p.Cys831Tyr		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.C831Y	ENST00000332142.5	37	c.2492	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656541	0.88154	.	.	ENSG00000184611	ENST00000332142	D	0.97352	-4.35	5.67	5.67	0.87782	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99152	0.9707	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98985	1.0806	10	0.87932	D	0	.	19.7712	0.96366	0.0:1.0:0.0:0.0	.	831	Q9NS40	KCNH7_HUMAN	Y	831	ENSP00000331727:C831Y	ENSP00000331727:C831Y	C	-	2	0	KCNH7	162961617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.677000	0.91161	0.585000	0.79938	TGT	KCNH7	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	ENSG00000184611		0.353	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1		0	50	0	C	NM_033272		163253371	-1			no_errors	ENST00000332142	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	163253371	C	T	163253371	3	4	130	1	0	0	0	0	1	0	0	0	8064	478	17	3	1122	3	KCNH7	2	163253371	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	972864	163253371	79946002	29	33310											
GAD1	2571	genome.wustl.edu	37	chr2	171687588	171687588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tgctggactttcatcacccaCaccagttgctggaaggcatg	9	10	10	12	0	2	0	2	0	0	0	2	2	2	2	2	3	2	4	2	3	1	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:171687588C>T	ENST00000358196.3	+	5	983	c.433C>T	c.(433-435)Cac>Tac	p.H145Y	GAD1_ENST00000344257.5_Missense_Mutation_p.H145Y|GAD1_ENST00000375272.1_Missense_Mutation_p.H145Y|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	145					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						TCATCACCCACACCAGTTGCT	0.537																																																	0													115	101	106					2																	171687588		2203	4300	6503	SO:0001583	missense	0				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.433C>T	2.37:g.171687588C>T	ENSP00000350928:p.His145Tyr		Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	p.H145Y	ENST00000358196.3	37	c.433	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	C	30	5.051527	0.93793	.	.	ENSG00000128683	ENST00000358196;ENST00000375272;ENST00000344257	T;T;T	0.38240	1.15;1.15;1.15	5.9	5.9	0.94986	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.60650	0.2285	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.73708	0.907;0.981	T	0.60276	-0.7295	10	0.87932	D	0	-19.2543	20.2673	0.98463	0.0:1.0:0.0:0.0	.	145;145	Q99259;Q99259-3	DCE1_HUMAN;.	Y	145	ENSP00000350928:H145Y;ENSP00000364421:H145Y;ENSP00000341167:H145Y	ENSP00000341167:H145Y	H	+	1	0	GAD1	171395834	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.786000	0.95864	0.643000	0.83706	CAC	GAD1	-	superfamily_PyrdxlP-dep_Trfase	ENSG00000128683		0.537	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	-	0	84	0	C			171687588	1	tier1	-	no_errors	ENST00000358196	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	171687588	C	T	171687588	3	4	130	1	0	0	0	0	1	0	0	0	6203	478	17	3	447	3	GAD1	2	171687588	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	8434217	171687588	71511785	30	33311											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098804	178098804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaattgggagaaattcacCtgtctcttcatctagttgta	10	15	8	8	0	4	2	2	1	2	1	5	3	4	2	1	1	0	2	1	1	4	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:178098804C>T	ENST00000397062.3	-	2	795	c.241G>A	c.(241-243)Ggt>Agt	p.G81S	NFE2L2_ENST00000464747.1_Missense_Mutation_p.G65S|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G65S|NFE2L2_ENST00000423513.1_Missense_Mutation_p.G65S|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G65S	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	81					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G81S(2)|p.G81_F83delGEF(1)|p.G81C(1)		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)			AGAAATTCACCTGTCTCTTCA	0.438			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	4	Substitution - Missense(3)|Deletion - In frame(1)	lung(2)|liver(1)|endometrium(1)											143	142	142					2																	178098804		1901	4105	6006	SO:0001583	missense	0				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.241G>A	2.37:g.178098804C>T	ENSP00000380252:p.Gly81Ser		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.G81S	ENST00000397062.3	37	c.241	CCDS42782.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.986306|3.986306	0.74589|0.74589	.|.	.|.	ENSG00000116044|ENSG00000116044	ENST00000449627|ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T|T;T;T;T;T;T	0.29397|0.52057	1.57|1.22;1.22;1.22;0.68;0.68;1.22	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75064|0.75064	0.3799|0.3799	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.998;1.0;0.999	T|T	0.78275|0.78275	-0.2267|-0.2267	7|10	0.23891|0.72032	T|D	0.37|0.01	.|.	19.9976|19.9976	0.97389|0.97389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|65;65;65;81	.|E9PGJ7;B4DNB0;C9JFL6;Q16236	.|.;.;.;NF2L2_HUMAN	T|S	65|65;81;65;65;65;65	ENSP00000391590:A65T|ENSP00000380253:G65S;ENSP00000380252:G81S;ENSP00000411575:G65S;ENSP00000400073:G65S;ENSP00000412191:G65S;ENSP00000410015:G65S	ENSP00000391590:A65T|ENSP00000380252:G81S	A|G	-|-	1|1	0|0	NFE2L2|NFE2L2	177807050|177807050	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.995000|0.995000	0.86356|0.86356	7.298000|7.298000	0.78815|0.78815	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	GCA|GGT	NFE2L2	-	NULL	ENSG00000116044		0.438	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0	90	0	C	NM_006164		178098804	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	28.24	61	24	SNP	1.000	T	T	178098804	C	T	178098804	3	4	130	1	0	0	0	0	1	0	0	0	10407	681	24	3	1592	3	NFE2L2	2	178098804	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	6411216	178098804	65100569	31	33312											
STAT4	6775	genome.wustl.edu	37	chr2	191941041	191941041	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctacatgcattggatttccaTgaaattttccctgaaaaaaa	15	13	5	8	0	0	2	0	2	0	0	2	3	2	3	2	1	2	1	2	1	5	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:191941041T>C	ENST00000392320.2	-	4	598	c.284A>G	c.(283-285)cAt>cGt	p.H95R	STAT4_ENST00000358470.4_Missense_Mutation_p.H95R	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	95					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)			TGGATTTCCATGAAATTTTCC	0.328																																																	0													87	91	89					2																	191941041		2203	4300	6503	SO:0001583	missense	0				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.284A>G	2.37:g.191941041T>C	ENSP00000376134:p.His95Arg		Q96NZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.H95R	ENST00000392320.2	37	c.284	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	T	7.129	0.579443	0.13686	.	.	ENSG00000138378	ENST00000358470;ENST00000392320;ENST00000413064	T;T;T	0.50001	0.76;0.76;0.76	5.58	4.42	0.53409	STAT transcription factor, protein interaction (4);	0.390174	0.27787	N	0.017852	T	0.26991	0.0661	N	0.14661	0.345	0.80722	D	1	P;B;B	0.35307	0.494;0.275;0.275	B;B;B	0.34722	0.188;0.082;0.082	T	0.07290	-1.0780	10	0.12103	T	0.63	-28.2491	10.3459	0.43906	0.0:0.0787:0.0:0.9213	.	95;95;95	B4DSY7;B4DV04;Q14765	.;.;STAT4_HUMAN	R	95;95;68	ENSP00000351255:H95R;ENSP00000376134:H95R;ENSP00000403238:H68R	ENSP00000351255:H95R	H	-	2	0	STAT4	191649286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.790000	0.55461	2.248000	0.74166	0.528000	0.53228	CAT	STAT4	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction	ENSG00000138378		0.328	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1		0	35	0	T	NM_003151		191941041	-1			no_errors	ENST00000358470	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	C	C	191941041	T	C	191941041	3	2	130	1	0	0	0	0	1	0	0	0	15314	1464	51	4	2046	4	STAT4	2	191941041	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	13842237	191941041	51258332	32	33313											
AOX1	316	genome.wustl.edu	37	chr2	201467012	201467012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttctccttcaggtaacCtgtgccgttgcactggatac	6	15	9	11	1	2	0	1	0	1	0	3	1	2	1	3	2	4	4	3	2	2	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:201467012C>A	ENST00000374700.2	+	6	683	c.442C>A	c.(442-444)Ctg>Atg	p.L148M		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	148					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)	TTCAGGTAACCTGTGCCGTTG	0.463																																																	0													181	158	166					2																	201467012		2203	4300	6503	SO:0001583	missense	0			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.442C>A	2.37:g.201467012C>A	ENSP00000363832:p.Leu148Met		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.L148M	ENST00000374700.2	37	c.442	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353873	0.61293	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	T;T	0.72167	-0.63;-0.63	5.65	2.72	0.32119	[2Fe-2S]-binding (3);	0.000000	0.64402	D	0.000002	D	0.86556	0.5961	H	0.96333	3.805	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.86369	0.1722	10	0.87932	D	0	-30.6966	7.3906	0.26907	0.0:0.6475:0.0:0.3525	.	148	Q06278	ADO_HUMAN	M	148;123	ENSP00000363832:L148M;ENSP00000392485:L123M	ENSP00000363832:L148M	L	+	1	2	AOX1	201175257	0.997000	0.39634	1.000000	0.80357	0.956000	0.61745	0.640000	0.24705	0.950000	0.37743	0.655000	0.94253	CTG	AOX1	-	pfam_2Fe-2S-bd,superfamily_2Fe-2S-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.463	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	-	0	73	0	C	NM_001159		201467012	1	tier1	-	no_errors	ENST00000374700	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.998	A	A	201467012	C	A	201467012	3	1	130	1	0	0	0	0	1	0	0	0	729	680	24	3	464	3	AOX1	2	201467012	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	9525971	201467012	41732361	33	33314											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209207315	209207315	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttaatgtatgaacatgaaCgagtgcccattgcagtctgc	12	11	9	9	1	1	2	0	2	1	0	1	3	1	2	1	0	5	2	1	0	4	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:209207315C>T	ENST00000264380.4	+	32	5127	c.4969C>T	c.(4969-4971)Cga>Tga	p.R1657*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1657					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.R1657*(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						TGAACATGAACGAGTGCCCAT	0.338																																																	1	Substitution - Nonsense(1)	large_intestine(1)											174	156	162					2																	209207315		2203	4300	6503	SO:0001587	stop_gained	0			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.4969C>T	2.37:g.209207315C>T	ENSP00000264380:p.Arg1657*		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Nonsense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.R1657*	ENST00000264380.4	37	c.4969	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	C	46	12.107369	0.99636	.	.	ENSG00000115020	ENST00000264380	.	.	.	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-16.3541	19.5723	0.95425	0.0:1.0:0.0:0.0	.	.	.	.	X	1657	.	ENSP00000264380:R1657X	R	+	1	2	PIKFYVE	208915560	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.178000	0.58284	2.695000	0.91970	0.557000	0.71058	CGA	PIKFYVE	-	NULL	ENSG00000115020		0.338	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2		0	89	0	C	NM_015040		209207315	1			no_errors	ENST00000264380	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T	T	209207315	C	T	209207315	4	4	130	1	0	0	0	0	0	1	0	0	11963	528	19	1	5102	1	PIKFYVE	2	209207315	Nonsense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	7740303	209207315	33992058	34	33315											
ACSL3	2181	genome.wustl.edu	37	chr2	223791822	223791822	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccactttctgcaaccacgcaGcgattcatgaacatctgttt	10	12	6	13	2	3	1	1	1	2	0	3	2	3	1	2	0	4	3	2	0	2	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:223791822G>T	ENST00000357430.3	+	12	1911	c.1380G>T	c.(1378-1380)caG>caT	p.Q460H	ACSL3_ENST00000392066.3_Missense_Mutation_p.Q460H	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	460					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CAACCACGCAGCGATTCATGA	0.483			T	ETV1	prostate																																			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0													129	119	122					2																	223791822		2203	4300	6503	SO:0001583	missense	0			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1380G>T	2.37:g.223791822G>T	ENSP00000350012:p.Gln460His		Q60I92|Q8IUM9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q460H	ENST00000357430.3	37	c.1380	CCDS2455.1	2	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131220	0.37630	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	T;T	0.41400	1.0;1.0	5.88	5.01	0.66863	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	M	0.67517	2.055	0.80722	D	1	B	0.31730	0.337	B	0.36766	0.232	T	0.36065	-0.9763	10	0.33940	T	0.23	-13.3487	12.0077	0.53270	0.1384:0.0:0.8616:0.0	.	460	O95573	ACSL3_HUMAN	H	460	ENSP00000350012:Q460H;ENSP00000375918:Q460H	ENSP00000350012:Q460H	Q	+	3	2	ACSL3	223500066	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.789000	0.69029	1.501000	0.48654	0.591000	0.81541	CAG	ACSL3	-	pfam_AMP-dep_Synth/Lig	ENSG00000123983		0.483	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL3	HGNC	protein_coding	OTTHUMT00000256862.2	-	0	56	0	G	NM_004457		223791822	1	tier1	-	no_errors	ENST00000357430	ensembl	human	known	74_37	missense	51.28	19	20	SNP	1.000	T	T	223791822	G	T	223791822	3	4	130	1	0	0	0	0	1	0	0	0	178	962	34	3	1414	3	ACSL3	2	223791822	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	14584507	223791822	19407551	35	33316											
SCG2	7857	genome.wustl.edu	37	chr2	224463668	224463668	+	Missense_Mutation	SNP	C	C	T																															aaagcttcgagtattattctCatccagtcttcttcactcag																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:224463668C>T	ENST00000305409.2	-	2	565	c.333G>A	c.(331-333)atG>atA	p.M111I		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)		GTATTATTCTCATCCAGTCTT	0.438																																																	0													132	133	133					2																	224463668		2203	4300	6503	SO:0001583	missense	0			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.333G>A	2.37:g.224463668C>T	ENSP00000304133:p.Met111Ile		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	pfam_Granin	p.M111I	ENST00000305409.2	37	c.333	CCDS2457.1	2	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229906	0.39399	.	.	ENSG00000171951	ENST00000305409;ENST00000421386;ENST00000433889	T;T;T	0.01613	4.73;4.73;4.73	5.5	4.58	0.56647	.	0.273285	0.40554	N	0.001062	T	0.02083	0.0065	L	0.29908	0.895	0.42328	D	0.992284	B	0.11235	0.004	B	0.14578	0.011	T	0.59825	-0.7381	10	0.32370	T	0.25	.	15.3825	0.74669	0.1923:0.8077:0.0:0.0	.	111	P13521	SCG2_HUMAN	I	111	ENSP00000304133:M111I;ENSP00000394702:M111I;ENSP00000415468:M111I	ENSP00000304133:M111I	M	-	3	0	SCG2	224171912	0.026000	0.19158	1.000000	0.80357	0.990000	0.78478	-0.015000	0.12634	2.741000	0.93983	0.585000	0.79938	ATG	SCG2	-	pfam_Granin	ENSG00000171951		0.438	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	-	0	44	0	C	NM_003469		224463668	-1	tier1	-	no_errors	ENST00000305409	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T	T	224463668	C	T	224463668	3	4	130	1	0	0	0	0	1	0	0	0	13936	826	29	3	1524	3	SCG2	2	224463668	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	671846	224463668	18735705	36	33317	121	2									
SCG2	7857	genome.wustl.edu	37	chr2	224463671	224463671	+	Nonsense_Mutation	SNP	C	C	T																															gcttcgagtattattctcatCcagtcttcttcactcagtga																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:224463671C>T	ENST00000305409.2	-	2	562	c.330G>A	c.(328-330)tgG>tgA	p.W110*		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0			G -> E (in MEN1). {ECO:0000269|PubMed:15730416}.		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)		TTATTCTCATCCAGTCTTCTT	0.433																																																	0													132	133	132					2																	224463671		2203	4300	6503	SO:0001587	stop_gained	0			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.330G>A	2.37:g.224463671C>T	ENSP00000304133:p.Trp110*		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP	pfam_Granin	p.W110*	ENST00000305409.2	37	c.330	CCDS2457.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.037096	0.97226	.	.	ENSG00000171951	ENST00000305409;ENST00000421386;ENST00000433889	.	.	.	5.5	5.5	0.81552	.	0.067251	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.775	0.96388	0.0:1.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000304133:W110X	W	-	3	0	SCG2	224171915	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.260000	0.65490	2.741000	0.93983	0.585000	0.79938	TGG	SCG2	-	pfam_Granin	ENSG00000171951		0.433	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	-	0	46	0	C	NM_003469		224463671	-1	tier1	-	no_errors	ENST00000305409	ensembl	human	known	74_37	nonsense	15.00	17	3	SNP	1.000	T	T	224463671	C	T	224463671	4	4	130	1	0	0	0	0	0	1	0	0	13936	856	30	3	1527	3	SCG2	2	224463671	Nonsense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	3	224463671	18735702	37	33318	121	2									
GIGYF2	26058	genome.wustl.edu	37	chr2	233681605	233681605	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagagagaagagaggcaGaaatgagggcaaaacgggaa	20	1	16	4	1	0	5	0	1	0	4	0	8	0	6	0	3	2	3	0	3	6	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:233681605G>T	ENST00000409547.1	+	22	2544	c.2233G>T	c.(2233-2235)Gaa>Taa	p.E745*	GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.E576*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.E767*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.E767*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.E745*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.E766*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.E739*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	745	Gln-rich.|Glu-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)		AAGAGAGGCAGAAATGAGGGC	0.468																																																	0													122	112	115					2																	233681605		2203	4300	6503	SO:0001587	stop_gained	0			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.2233G>T	2.37:g.233681605G>T	ENSP00000386537:p.Glu745*		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.E767*	ENST00000409547.1	37	c.2299	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323348	0.81580	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	.	.	.	3.8	3.8	0.43715	.	0.119054	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-15.7996	15.8175	0.78615	0.0:0.0:1.0:0.0	.	.	.	.	X	767;688;745;767;745;745;688;739;766;739;576	.	ENSP00000362664:E745X	E	+	1	0	GIGYF2	233389849	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	7.596000	0.82721	2.122000	0.65172	0.561000	0.74099	GAA	GIGYF2	-	NULL	ENSG00000204120		0.468	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	-	0	55	0	G	NM_001103146		233681605	1	tier1	-	no_errors	ENST00000373566	ensembl	human	known	74_37	nonsense	13.04	20	3	SNP	1.000	T	T	233681605	G	T	233681605	4	4	130	1	0	0	0	0	0	1	0	0	6404	943	33	3	2373	3	GIGYF2	2	233681605	Nonsense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	9217934	233681605	9517768	38	33319											
GIGYF2	26058	genome.wustl.edu	37	chr2	233681731	233681731	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggaagaagaacttgccCgaaggaaacaggtatgtatc	16	6	13	6	1	0	3	0	0	0	3	1	7	0	5	1	3	3	2	1	3	7	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:233681731C>T	ENST00000409547.1	+	22	2670	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*	GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.R618*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.R809*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.R809*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.R787*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.R808*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.R781*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	787	Gln-rich.|Glu-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)	p.R787R(1)|p.R808R(1)		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)		AGAACTTGCCCGAAGGAAACA	0.468																																																	2	Substitution - coding silent(2)	lung(2)											234	223	227					2																	233681731		2203	4300	6503	SO:0001587	stop_gained	0			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.2359C>T	2.37:g.233681731C>T	ENSP00000386537:p.Arg787*		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.R809*	ENST00000409547.1	37	c.2425	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.794742	0.96952	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	.	.	.	3.89	-0.449	0.12226	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8124	7.5372	0.27717	0.4181:0.5043:0.0:0.0776	.	.	.	.	X	809;787;809;787;781;808;781;618	.	ENSP00000362664:R787X	R	+	1	2	GIGYF2	233389975	0.956000	0.32656	0.826000	0.32828	0.465000	0.32709	1.961000	0.40432	-0.208000	0.10171	-0.258000	0.10820	CGA	GIGYF2	-	NULL	ENSG00000204120		0.468	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2		0	81	0	C	NM_001103146		233681731	1			no_errors	ENST00000373566	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	0.993	T	T	233681731	C	T	233681731	4	4	130	1	0	0	0	0	0	1	0	0	6404	644	23	1	2499	1	GIGYF2	2	233681731	Nonsense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	126	233681731	9517642	39	33320											
NEU2	4759	genome.wustl.edu	37	chr2	233897431	233897431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcgtgttccagtcgggagCccatgcctacagaatccctg	8	8	12	13	2	0	1	0	0	0	1	3	3	2	2	4	1	4	1	4	1	2	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr2:233897431C>T	ENST00000233840.3	+	1	50	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	17					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CAGTCGGGAGCCCATGCCTAC	0.627																																																	0													134	113	120					2																	233897431		2203	4300	6503	SO:0001583	missense	0			Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.50C>T	2.37:g.233897431C>T	ENSP00000233840:p.Ala17Val		Q3KNW4|Q6NTB4	Missense_Mutation	SNP	superfamily_Sialidases	p.A17V	ENST00000233840.3	37	c.50	CCDS2501.1	2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381399	0.42207	.	.	ENSG00000115488	ENST00000233840	D	0.82526	-1.62	5.48	0.0849	0.14439	Neuraminidase (2);	0.905275	0.09399	N	0.807451	T	0.63319	0.2501	N	0.13043	0.29	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.43327	-0.9398	10	0.16420	T	0.52	-6.5071	3.3107	0.07016	0.2931:0.3565:0.27:0.0804	.	17	Q9Y3R4	NEUR2_HUMAN	V	17	ENSP00000233840:A17V	ENSP00000233840:A17V	A	+	2	0	NEU2	233605675	0.000000	0.05858	0.000000	0.03702	0.683000	0.39861	-0.644000	0.05415	-0.333000	0.08476	0.655000	0.94253	GCC	NEU2	-	superfamily_Sialidases	ENSG00000115488		0.627	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU2	HGNC	protein_coding	OTTHUMT00000257053.2	-	0	29	0	C	NM_005383		233897431	1	tier1	-	no_errors	ENST00000233840	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.007	T	T	233897431	C	T	233897431	3	4	130	1	0	0	0	0	1	0	0	0	10381	739	26	3	52	3	NEU2	2	233897431	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	215700	233897431	9301942	40	33321											
ATG7	10533	genome.wustl.edu	37	chr3	11389409	11389409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatctcctactccaatcCtgtgaggcagcctctctatg	9	11	7	14	0	2	2	0	1	2	1	6	2	4	2	4	1	2	1	4	1	4	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr3:11389409C>T	ENST00000354449.3	+	12	1209	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L	ATG7_ENST00000446450.2_Missense_Mutation_p.P356L|ATG7_ENST00000354956.5_Missense_Mutation_p.P395L	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	395					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						TACTCCAATCCTGTGAGGCAG	0.522																																																	0													117	108	111					3																	11389409		2203	4300	6503	SO:0001583	missense	0			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.1184C>T	3.37:g.11389409C>T	ENSP00000346437:p.Pro395Leu		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7	p.P395L	ENST00000354449.3	37	c.1184	CCDS2605.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.513012	0.96402	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.14516	2.5;2.5;2.5	5.99	5.99	0.97316	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	L	0.38953	1.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.00812	-1.1556	10	0.87932	D	0	-19.073	20.4777	0.99188	0.0:1.0:0.0:0.0	.	356;395;395	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	L	356;395;395	ENSP00000412580:P356L;ENSP00000347042:P395L;ENSP00000346437:P395L	ENSP00000346437:P395L	P	+	2	0	ATG7	11364409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.367000	0.79558	2.840000	0.97914	0.655000	0.94253	CCT	ATG7	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7	ENSG00000197548		0.522	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	-	0	43	0	C	NM_006395		11389409	1	tier1	-	no_errors	ENST00000354449	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T	T	11389409	C	T	11389409	3	4	130	1	0	0	0	0	1	0	0	0	1102	681	24	3	1226	3	ATG7	3	11389409	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09		11389409	186633021	41	33322											
TOP2B	7155	genome.wustl.edu	37	chr3	25648797	25648799	+	In_Frame_Del	DEL	TCA	TCA	-																															attcctctaaatcattattgTcatcatcatcatcatcagca																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	TCA	TCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr3:25648797_25648799delTCA	ENST00000264331.4	-	31	4160_4162	c.4161_4163delTGA	c.(4159-4164)gatgac>gac	p.1387_1388DD>D	TOP2B_ENST00000540199.1_In_Frame_Del_p.239_240DD>D|TOP2B_ENST00000542520.1_In_Frame_Del_p.239_240DD>D|TOP2B_ENST00000435706.2_In_Frame_Del_p.1382_1383DD>D	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1387					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)	atcattattgtcatcatcatcat	0.33																																																	0										29,3619		4,21,1799						2.5	1			81	87,7745		17,53,3846	no	coding	TOP2B	NM_001068.2		21,74,5645	A1A1,A1R,RR		1.1108,0.795,1.0105				116,11364				SO:0001651	inframe_deletion	0			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.4161_4163delTGA	3.37:g.25648806_25648808delTCA	ENSP00000264331:p.Asp1388del		Q13600|Q9UMG8|Q9UQP8	In_Frame_Del	DEL	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.D1388in_frame_del	ENST00000264331.4	37	c.4163_4161		3																																																																																			TOP2B	-	NULL	ENSG00000077097		0.33	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding			0	68	0	TCA			25648799	-1	tier1		no_errors	ENST00000264331	ensembl	human	known	74_37	in_frame_del	6.90	27	2	DEL	1.000:1.000:0.992	-	-	25648799	TCA	-	25648797	7	5	130	1	0	1	0	1	0	0	0	0	16414	1667	58	0	741	0	TOP2B	3	25648797	In_Frame_Del	DEL	TCA	TCGA-LN-A8I0-01A-11D-A36J-09	14259388	25648797	172373633	42	33323											
MAP4	4134	genome.wustl.edu	37	chr3	47950671	47950671	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatcttcctttttcccttctCctggtgtctttgattcagat	4	21	5	11	0	4	2	1	1	3	1	7	2	6	2	3	1	0	0	3	1	1	7			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr3:47950671C>T	ENST00000360240.6	-	8	2518				MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Missense_Mutation_p.G347E|MAP4_ENST00000426837.2_Missense_Mutation_p.G1764E|MAP4_ENST00000264724.11_Missense_Mutation_p.G354E	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TTTCCCTTCTCCTGGTGTCTT	0.433																																																	0													206	187	193					3																	47950671		1855	4107	5962	SO:0001627	intron_variant	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1999+5635G>A	3.37:g.47950671C>T			Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_MAP_tubulin-bd_rpt	p.G354E	ENST00000360240.6	37	c.1061	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	C	8.794	0.931258	0.18131	.	.	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000426837;ENST00000383736	T;T;T	0.29397	3.24;1.57;3.3	5.52	1.59	0.23543	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.09310	N	1	B;B	0.14012	0.009;0.001	B;B	0.19946	0.027;0.004	T	0.30621	-0.9972	8	0.24483	T	0.36	.	5.5276	0.16967	0.0:0.5047:0.2676:0.2277	.	354;354	P27816-4;E9PGM5	.;.	E	347;354;1764;354	ENSP00000373243:G347E;ENSP00000264724:G354E;ENSP00000407602:G1764E	ENSP00000264724:G354E	G	-	2	0	MAP4	47925675	0.000000	0.05858	0.074000	0.20217	0.574000	0.36063	0.407000	0.21049	0.064000	0.16427	-0.263000	0.10527	GGA	MAP4	-	NULL	ENSG00000047849		0.433	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	-	0	78	0	C	NM_002375		47950671	-1	tier1	-	no_errors	ENST00000264724	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.010	T	T	47950671	C	T	47950671	1	4	130	0	1	0	0	0	0	0	0	0	9296	855	30	3		3	MAP4	3	47950671	Intron	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	22301874	47950671	150071759	43	33324											
CDHR4	389118	genome.wustl.edu	37	chr3	49834363	49834363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtcatgctcaccttttgagCctggcctaggaggccctggg	5	10	14	12	0	2	1	2	1	0	0	2	2	2	2	4	5	2	1	4	5	1	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr3:49834363C>T	ENST00000412678.2	-	5	606	c.598G>A	c.(598-600)Gct>Act	p.A200T		NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	200					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						ACCTTTTGAGCCTGGCCTAGG	0.522																																																	0													72	67	69					3																	49834363		692	1591	2283	SO:0001583	missense	0				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"Cadherins / Cadherin-related"	34527	protein-coding gene	gene with protein product			"cadherin-like 29"	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.598G>A	3.37:g.49834363C>T	ENSP00000391409:p.Ala200Thr		Q6UXT0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A200T	ENST00000412678.2	37	c.598	CCDS46829.1	3	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939913	0.34283	.	.	ENSG00000187492	ENST00000412678	T	0.56776	0.44	5.25	3.45	0.39498	.	.	.	.	.	T	0.36276	0.0961	L	0.32530	0.975	0.58432	D	0.999998	P	0.37061	0.58	B	0.37601	0.254	T	0.05750	-1.0866	9	0.15066	T	0.55	-4.2962	7.0473	0.25052	0.1702:0.7412:0.0:0.0887	.	200	A6H8M9	CDHR4_HUMAN	T	200	ENSP00000391409:A200T	ENSP00000391409:A200T	A	-	1	0	CDHR4	49809367	1.000000	0.71417	0.771000	0.31576	0.016000	0.09150	2.052000	0.41316	0.725000	0.32318	-0.142000	0.14014	GCT	CDHR4	-	NULL	ENSG00000187492		0.522	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR4	HGNC	protein_coding	OTTHUMT00000350387.1	-	0	103	0	C	NM_001007540		49834363	-1	tier1	-	no_errors	ENST00000412678	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.841	T	T	49834363	C	T	49834363	3	4	130	1	0	0	0	0	1	0	0	0	3128	739	26	3	1828	3	CDHR4	3	49834363	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	1883692	49834363	148188067	44	33325											
MST1R	4486	genome.wustl.edu	37	chr3	49933711	49933712	+	Frame_Shift_Ins	INS	-	-	A																															gggggtaggaagcgaaagccINSaggcagtgtaaagccagcag																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr3:49933711_49933712insA	ENST00000296474.3	-	10	2592_2593	c.2565_2566insT	c.(2563-2568)cctggcfs	p.G856fs	MST1R_ENST00000344206.4_Frame_Shift_Ins_p.G856fs	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	856	IPT/TIG 3.				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)		AAGCGAAAGCCAGGCAGTGTAA	0.574																																																	0																																										SO:0001589	frameshift_variant	0			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.2566dupT	3.37:g.49933712_49933712dupA	ENSP00000296474:p.Gly856fs		B5A944|B5A945|B5A946|B5A947	Frame_Shift_Ins	INS	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.G855fs	ENST00000296474.3	37	c.2566_2565	CCDS2807.1	3																																																																																			MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Ig_E-set,smart_IPT	ENSG00000164078		0.574	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1		0	43	0	-			49933712	-1	tier1		no_errors	ENST00000296474	ensembl	human	known	74_37	frame_shift_ins	14.29	12	2	INS	0.073:0.000	A	A	49933712	-	A	49933711	7	5	130	1	0	1	1	0	0	0	0	0	9929	594	21	0	1680	0	MST1R	3	49933711	Frame_Shift_Ins	INS	-	TCGA-LN-A8I0-01A-11D-A36J-09	99348	49933711	148088719	45	33326											
PCBP4	57060	genome.wustl.edu	37	chr3	51992252	51992252	+	Frame_Shift_Del	DEL	A	A	-																															agatggcatagggtgtgcccAgcaggccagggggagctgtg																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr3:51992252delA	ENST00000461554.1	-	14	1368	c.1037delT	c.(1036-1038)ctgfs	p.L346fs	PCBP4_ENST00000395013.3_Frame_Shift_Del_p.L186fs|PCBP4_ENST00000322099.7_Frame_Shift_Del_p.L346fs|PCBP4_ENST00000484633.1_Frame_Shift_Del_p.L303fs|PCBP4_ENST00000395014.2_Frame_Shift_Del_p.L367fs|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000355852.2_Frame_Shift_Del_p.L346fs|PCBP4_ENST00000428823.2_Frame_Shift_Del_p.L303fs|PCBP4_ENST00000471622.1_Intron	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	346						cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGTGTGCCCAGCAGGCCAGG	0.687																																																	0													55	65	61					3																	51992252		2203	4300	6503	SO:0001589	frameshift_variant	0			AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"RNA binding protein MCG10", "LYST-interacting protein", "alphaCP-4 protein"	608503	"poly(rC)-binding protein 4"			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.1037delT	3.37:g.51992252delA	ENSP00000417196:p.Leu346fs		Q96AH7	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.L367fs	ENST00000461554.1	37	c.1100	CCDS2839.1	3																																																																																			PCBP4	-	NULL	ENSG00000090097		0.687	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCBP4	HGNC	protein_coding	OTTHUMT00000348597.1		0	56	0	A	NM_020418		51992252	-1	tier1		no_errors	ENST00000395014	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-	-	51992252	A	-	51992252	7	5	130	1	0	1	0	1	0	0	0	0	11542	188	7	0	178	0	PCBP4	3	51992252	Frame_Shift_Del	DEL	A	TCGA-LN-A8I0-01A-11D-A36J-09	2058541	51992252	146030178	46	33327											
ACY1	95	genome.wustl.edu	37	chr3	52020476	52020476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggagctgttcgtgcagcGgcctgagttccacgccctga	6	9	13	13	3	0	2	0	2	0	0	2	3	1	3	3	2	3	4	3	2	0	2	rs202098129		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr3:52020476G>T	ENST00000404366.2	+	7	628	c.482G>T	c.(481-483)cGg>cTg	p.R161L	ACY1_ENST00000476351.1_Missense_Mutation_p.R126L|ACY1_ENST00000476854.1_Missense_Mutation_p.R161L|ACY1_ENST00000494103.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.R262L|ACY1_ENST00000458031.2_Missense_Mutation_p.R251L	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	161					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)	p.R161Q(1)		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)	TTCGTGCAGCGGCCTGAGTTC	0.632																																																	1	Substitution - Missense(1)	endometrium(1)											47	47	47					3																	52020476		2203	4299	6502	SO:0001583	missense	0			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.482G>T	3.37:g.52020476G>T	ENSP00000384296:p.Arg161Leu		C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase	p.R251L	ENST00000404366.2	37	c.752	CCDS2844.1	3	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773784	0.49786	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000404366;ENST00000469863	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.41	4.54	0.55810	.	0.127254	0.53938	D	0.000054	T	0.32585	0.0834	L	0.41906	1.305	0.32897	D	0.512642	B;P;B	0.35456	0.012;0.502;0.113	B;B;B	0.25884	0.021;0.064;0.021	T	0.45396	-0.9264	10	0.27082	T	0.32	-1.7827	10.0494	0.42205	0.155:0.0:0.845:0.0	.	161;251;161	B4DPC3;B4DNW0;Q03154	.;.;ACY1_HUMAN	L	251;262;161;161;126;161;170	ENSP00000390557:R251L;ENSP00000420487:R262L;ENSP00000419262:R161L;ENSP00000417056:R126L;ENSP00000384296:R161L;ENSP00000419830:R170L	ENSP00000384296:R161L	R	+	2	0	ACY1;RP11-155D18.11	51995516	1.000000	0.71417	0.796000	0.32109	0.910000	0.53928	3.609000	0.54117	1.287000	0.44583	-0.136000	0.14681	CGG	ACY1	-	pfam_Peptidase_M20,tigrfam_N-acyl_aa_amidohydrolase	ENSG00000243989		0.632	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY1	HGNC	protein_coding	OTTHUMT00000349657.1		0	107	0	G	NM_000666		52020476	1			no_errors	ENST00000458031	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.999	T	T	52020476	G	T	52020476	3	4	130	1	0	0	0	0	1	0	0	0	226	1116	39	2	504	2	ACY1	3	52020476	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	28224	52020476	146001954	47	33328											
PVRL3	25945	genome.wustl.edu	37	chr3	110841020	110841020	+	Frame_Shift_Del	DEL	A	A	-																															ggaaattggtttgtaggaagAaaaggtgttaatctcaaatg																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr3:110841020delA	ENST00000485303.1	+	4	1127	c.852delA	c.(850-852)agafs	p.R284fs	PVRL3_ENST00000493615.1_Frame_Shift_Del_p.R261fs|PVRL3_ENST00000319792.3_Frame_Shift_Del_p.R284fs	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	284	Ig-like C2-type 2.			R -> G (in Ref. 2; BAC11404). {ECO:0000305}.	adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TTGTAGGAAGAAAAGGTGTTA	0.343																																																	0													95	93	93					3																	110841020		2203	4300	6503	SO:0001589	frameshift_variant	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.852delA	3.37:g.110841020delA	ENSP00000418070:p.Arg284fs		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Frame_Shift_Del	DEL	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.G286fs	ENST00000485303.1	37	c.852	CCDS2957.1	3																																																																																			PVRL3	-	pfscan_Ig-like_dom	ENSG00000177707		0.343	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1		0	63	0	A	NM_015480		110841020	1	tier1		no_errors	ENST00000485303	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	1.000	-	-	110841020	A	-	110841020	7	5	130	1	0	1	0	1	0	0	0	0	12886	243	9	0	866	0	PVRL3	3	110841020	Frame_Shift_Del	DEL	A	TCGA-LN-A8I0-01A-11D-A36J-09	58820544	110841020	87181410	48	33329											
KPNA1	3836	genome.wustl.edu	37	chr3	122168479	122168479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaccgcttgaattttatCattgggtccatctgatagat	10	15	9	7	1	2	4	1	3	1	1	3	5	3	4	2	1	0	1	2	1	3	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr3:122168479C>T	ENST00000344337.6	-	9	1035	c.859G>A	c.(859-861)Gat>Aat	p.D287N	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	287	Binding to RAG1.				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)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.D287H(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGAATTTTATCATTGGGTCCA	0.458																																					Melanoma(12;340 801 11196 19797)												1	Substitution - Missense(1)	urinary_tract(1)											85	79	81					3																	122168479		2203	4300	6503	SO:0001583	missense	0			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.859G>A	3.37:g.122168479C>T	ENSP00000343701:p.Asp287Asn		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.D287N	ENST00000344337.6	37	c.859	CCDS3013.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.464588	0.96257	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	T;T	0.32988	1.43;1.43	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.046607	0.85682	D	0.000000	T	0.48205	0.1487	L	0.49350	1.555	0.80722	D	1	P	0.43314	0.803	P	0.57679	0.825	T	0.37314	-0.9711	10	0.54805	T	0.06	-19.7872	17.703	0.88301	0.0:1.0:0.0:0.0	.	287	P52294	IMA1_HUMAN	N	287	ENSP00000343701:D287N;ENSP00000419890:D287N	ENSP00000343701:D287N	D	-	1	0	KPNA1	123651169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.644000	0.89710	0.563000	0.77884	GAT	KPNA1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000114030		0.458	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1		0	45	0	C	NM_002264		122168479	-1			no_errors	ENST00000344337	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	122168479	C	T	122168479	3	4	130	1	0	0	0	0	1	0	0	0	8456	826	29	3	781	3	KPNA1	3	122168479	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	11327459	122168479	75853951	49	33330											
KBTBD12	166348	genome.wustl.edu	37	chr3	127642922	127642922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctataattgtggctggagaaGcaagtgcctctaaactctct	11	12	9	9	0	2	1	0	0	2	1	3	2	2	1	1	2	3	2	1	2	6	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr3:127642922G>A	ENST00000405109.1	+	2	1485	c.1018G>A	c.(1018-1020)Gca>Aca	p.A340T	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.A340T			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	340										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GGCTGGAGAAGCAAGTGCCTC	0.353																																																	0													105	103	103					3																	127642922		1885	4092	5977	SO:0001583	missense	0				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1018G>A	3.37:g.127642922G>A	ENSP00000385957:p.Ala340Thr		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A340T	ENST00000405109.1	37	c.1018	CCDS33848.2	3	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451178	0.63290	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.65916	-0.18;-0.18	5.62	5.62	0.85841	Kelch-type beta propeller (1);	.	.	.	.	T	0.70272	0.3205	L	0.54323	1.7	0.34491	D	0.705025	D	0.56521	0.976	P	0.52481	0.7	T	0.75436	-0.3318	9	0.44086	T	0.13	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	340	Q3ZCT8	KBTBC_HUMAN	T	340	ENSP00000385957:A340T;ENSP00000385879:A340T	ENSP00000385957:A340T	A	+	1	0	KBTBD12	129125612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.115000	0.71566	2.810000	0.96702	0.585000	0.79938	GCA	KBTBD12	-	pirsf_Kelch-like_gigaxonin	ENSG00000187715		0.353	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	-	0	63	0	G	NM_207335		127642922	1	tier1	-	no_errors	ENST00000405109	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A	A	127642922	G	A	127642922	3	1	130	1	0	0	0	0	1	0	0	0	8018	971	34	3	1020	3	KBTBD12	3	127642922	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	5474443	127642922	70379508	50	33331											
PLD1	5337	genome.wustl.edu	37	chr3	171379880	171379880	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatagtgcctgctgttctcTatcacatggacgtaagcggc	9	12	10	10	2	2	0	1	0	1	0	3	1	2	1	1	2	3	3	1	2	4	5	rs568658302		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr3:171379880T>C	ENST00000351298.4	-	20	2436	c.2310A>G	c.(2308-2310)atA>atG	p.I770M	PLD1_ENST00000356327.5_Missense_Mutation_p.I732M|PLD1_ENST00000340989.4_Missense_Mutation_p.I770M|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	770	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)	TGCTGTTCTCTATCACATGGA	0.448													T|||	1	0.000199681	8e-04	0	5008	,	,		20880	0		0	False		,,,				2504	0				NSCLC(149;2174 3517 34058)												0													117	111	113					3																	171379880		2203	4300	6503	SO:0001583	missense	0			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.2310A>G	3.37:g.171379880T>C	ENSP00000342793:p.Ile770Met			Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.I770M	ENST00000351298.4	37	c.2310	CCDS3216.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.57|16.57	3.159047|3.159047	0.57368|0.57368	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989|ENST00000446289	T;T;T|.	0.44083|.	0.93;0.93;0.93|.	5.51|5.51	-0.163|-0.163	0.13363|0.13363	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85622|.	0.5739|.	H|H	0.98426|0.98426	4.23|4.23	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.999;1.0;1.0|.	D|.	0.84068|.	0.0378|.	10|.	0.87932|.	D|.	0|.	-23.703|-23.703	8.5713|8.5713	0.33572|0.33572	0.1219:0.0:0.3798:0.4983|0.1219:0.0:0.3798:0.4983	.|.	732;770;755;770|.	Q13393-2;Q13393-4;Q59EA4;Q13393|.	.;.;.;PLD1_HUMAN|.	M|W	732;770;770|33	ENSP00000348681:I732M;ENSP00000342793:I770M;ENSP00000340326:I770M|.	ENSP00000340326:I770M|.	I|X	-|-	3|2	3|0	PLD1|PLD1	172862574|172862574	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.638000|0.638000	0.38207|0.38207	1.560000|1.560000	0.36331|0.36331	-0.253000|-0.253000	0.09514|0.09514	0.383000|0.383000	0.25322|0.25322	ATA|TAG	PLD1	-	pirsf_PLipase_D_euk	ENSG00000075651		0.448	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	-	0	63	0	T	NM_002662		171379880	-1	tier1	-	no_errors	ENST00000351298	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.999	C	C	171379880	T	C	171379880	3	2	130	1	0	0	0	0	1	0	0	0	12084	1512	53	4	946	4	PLD1	3	171379880	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	43736958	171379880	26642550	51	33332											
SEL1L3	23231	genome.wustl.edu	37	chr4	25789889	25789889	+	Frame_Shift_Del	DEL	T	T	-																															catagattaacgcaggatccTccgtctccagggcgcccttg																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:25789889delT	ENST00000399878.3	-	13	2296	c.2174delA	c.(2173-2175)gagfs	p.E725fs	SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.E572fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.E690fs	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	725						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CGCAGGATCCTCCGTCTCCAG	0.498																																																	0													161	160	160					4																	25789889		1985	4155	6140	SO:0001589	frameshift_variant	0			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.2174delA	4.37:g.25789889delT	ENSP00000382767:p.Glu725fs		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Frame_Shift_Del	DEL	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.E725fs	ENST00000399878.3	37	c.2174	CCDS47037.1	4																																																																																			SEL1L3	-	smart_Sel1-like	ENSG00000091490		0.498	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1		0	56	0	T	NM_015187		25789889	-1	tier1		no_errors	ENST00000399878	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-	-	25789889	T	-	25789889	7	5	130	1	0	1	0	1	0	0	0	0	14057	1551	54	0	1272	0	SEL1L3	4	25789889	Frame_Shift_Del	DEL	T	TCGA-LN-A8I0-01A-11D-A36J-09		25789889	165364387	52	33333											
KDR	3791	genome.wustl.edu	37	chr4	55958878	55958878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtccttatacagatcttcaGgagctgtccaaagaggcagg	12	9	11	9	0	2	2	1	0	1	2	4	3	4	3	2	3	2	2	2	3	3	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:55958878G>T	ENST00000263923.4	-	22	3270	c.2975C>A	c.(2974-2976)cCt>cAt	p.P992H	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	992	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGATCTTCAGGAGCTGTCCA	0.438			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													85	75	78					4																	55958878		2203	4300	6503	SO:0001583	missense	0			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.2975C>A	4.37:g.55958878G>T	ENSP00000263923:p.Pro992His		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt	p.P992H	ENST00000263923.4	37	c.2975	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140492	0.56936	.	.	ENSG00000128052	ENST00000263923	D	0.89050	-2.46	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);	0.398007	0.28414	N	0.015438	D	0.85986	0.5825	N	0.17838	0.53	0.32716	N	0.511013	B	0.30793	0.295	B	0.41299	0.353	T	0.82432	-0.0460	10	0.17832	T	0.49	.	20.3802	0.98930	0.0:0.0:1.0:0.0	.	992	P35968	VGFR2_HUMAN	H	992	ENSP00000263923:P992H	ENSP00000263923:P992H	P	-	2	0	KDR	55653635	1.000000	0.71417	0.995000	0.50966	0.646000	0.38490	5.241000	0.65384	2.822000	0.97130	0.563000	0.77884	CCT	KDR	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000128052		0.438	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	-	0	75	0	G			55958878	-1	tier1	-	no_errors	ENST00000263923	ensembl	human	known	74_37	missense	7.14	51	4	SNP	0.997	T	T	55958878	G	T	55958878	3	4	130	1	0	0	0	0	1	0	0	0	8166	1000	35	3	1131	3	KDR	4	55958878	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	30168989	55958878	135195398	53	33334											
AASDH	132949	genome.wustl.edu	37	chr4	57220226	57220226	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgcacaagttcaatgttAagacgtttgccatgacgttt	10	15	9	7	2	1	2	1	1	0	1	1	2	1	2	1	0	2	6	1	0	3	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:57220226A>G	ENST00000205214.6	-	8	1542	c.1362T>C	c.(1360-1362)ctT>ctC	p.L454L	AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000513376.1_Silent_p.L354L|AASDH_ENST00000502617.1_Silent_p.L454L|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Silent_p.L301L|AASDH_ENST00000451613.1_Silent_p.L454L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	454					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTTCAATGTTAAGACGTTTGC	0.383																																																	0													93	86	89					4																	57220226		2202	4300	6502	SO:0001819	synonymous_variant	0			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1362T>C	4.37:g.57220226A>G			A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.L454	ENST00000205214.6	37	c.1362	CCDS3504.1	4																																																																																			AASDH	-	pfam_AMP-dep_Synth/Lig	ENSG00000157426		0.383	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1		0	65	0	A	NM_181806		57220226	-1			no_errors	ENST00000205214	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.996	G	G	57220226	A	G	57220226	2	3	130	1	0	0	0	0	0	0	0	1	22	349	13	4		4	AASDH	4	57220226	Silent	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	1261348	57220226	133934050	54	33335											
UGT2A3	79799	genome.wustl.edu	37	chr4	69796326	69796326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcttgtcatagttttgaaGtttatttctacagctgctcc	7	18	7	9	1	2	1	1	1	1	0	4	1	3	1	1	0	3	5	1	0	4	8			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:69796326G>T	ENST00000251566.4	-	5	1272	c.1242C>A	c.(1240-1242)aaC>aaA	p.N414K	UGT2A3_ENST00000420231.2_Missense_Mutation_p.N125K	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	414					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						TAGTTTTGAAGTTTATTTCTA	0.418																																																	0													148	151	150					4																	69796326		2203	4300	6503	SO:0001583	missense	0				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.1242C>A	4.37:g.69796326G>T	ENSP00000251566:p.Asn414Lys		Q9H6S4	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.N414K	ENST00000251566.4	37	c.1242	CCDS3525.1	4	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560899	0.45590	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.61274	0.12;3.3	1.99	1.99	0.26369	.	0.430732	0.24398	N	0.038868	T	0.62612	0.2442	M	0.77486	2.375	0.09310	N	0.999999	P	0.50066	0.931	P	0.52343	0.696	T	0.55623	-0.8112	10	0.87932	D	0	.	4.5189	0.11949	0.2009:0.0:0.7991:0.0	.	414	Q6UWM9	UD2A3_HUMAN	K	414;125	ENSP00000251566:N414K;ENSP00000440115:N125K	ENSP00000251566:N414K	N	-	3	2	UGT2A3	69830915	0.031000	0.19500	0.007000	0.13788	0.070000	0.16714	0.452000	0.21795	1.094000	0.41399	0.491000	0.48974	AAC	UGT2A3	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	ENSG00000135220		0.418	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A3	HGNC	protein_coding	OTTHUMT00000251564.1		0	77	0	G	NM_024743		69796326	-1			no_errors	ENST00000251566	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.279	T	T	69796326	G	T	69796326	3	4	130	1	0	0	0	0	1	0	0	0	17004	1020	36	3	349	3	UGT2A3	4	69796326	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	12576100	69796326	121357950	55	33336											
PARM1	25849	genome.wustl.edu	37	chr4	75938361	75938361	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaacatgcattaagttcagGtgagtctctatccagtccac	12	11	8	10	0	2	2	1	1	1	1	5	2	4	2	2	1	2	2	2	1	3	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:75938361G>T	ENST00000307428.7	+	2	981		c.e2+1		RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1						positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TTAAGTTCAGGTGAGTCTCTA	0.428																																																	0													86	85	85					4																	75938361		1996	4166	6162	SO:0001630	splice_region_variant	0			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.769+1G>T	4.37:g.75938361G>T			B3KMQ9|Q96DV8|Q9Y4S1	Splice_Site	SNP	-	e2+1	ENST00000307428.7	37	c.769+1	CCDS47077.1	4	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963764	0.34659	.	.	ENSG00000169116	ENST00000307428	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6752	0.68975	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PARM1	76157385	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	4.681000	0.61663	2.546000	0.85860	0.557000	0.71058	.	PARM1	-	-	ENSG00000169116		0.428	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARM1	HGNC	protein_coding	OTTHUMT00000362494.1		0	26	0	G	NM_015393	Intron	75938361	1			no_errors	ENST00000307428	ensembl	human	known	74_37	splice_site	6.25	30	2	SNP	1.000	T	T	75938361	G	T	75938361	5	4	130	1	0	0	0	0	0	0	1	0	11491	1275	44	3	776	3	PARM1	4	75938361	Splice_Site	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	6142035	75938361	115215915	56	33337											
FRAS1	80144	genome.wustl.edu	37	chr4	79432599	79432599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacatccagaggcttccagGctcagtccttcatcgcaacc	9	8	9	15	1	2	1	2	0	0	1	6	2	5	2	4	3	1	3	4	3	1	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:79432599G>A	ENST00000264895.6	+	64	10392	c.9952G>A	c.(9952-9954)Gct>Act	p.A3318T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3314					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						AGGCTTCCAGGCTCAGTCCTT	0.522																																																	0													65	65	65					4																	79432599		2005	4186	6191	SO:0001583	missense	0			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.9952G>A	4.37:g.79432599G>A	ENSP00000264895:p.Ala3318Thr		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.A3318T	ENST00000264895.6	37	c.9952	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.619967|5.619967	0.96660|0.96660	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.16897|.	2.31|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82898|0.82898	0.5137|0.5137	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.82851|0.82851	-0.0253|-0.0253	10|5	0.87932|.	D|.	0|.	.|.	20.1882|20.1882	0.98224|0.98224	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3317;3318|.	Q86XX4-2;E9PHH6|.	.;.|.	T|D	3318|1546	ENSP00000264895:A3318T|.	ENSP00000264895:A3318T|.	A|G	+|+	1|2	0|0	FRAS1|FRAS1	79651623|79651623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.657000|9.657000	0.98554|0.98554	2.783000|2.783000	0.95769|0.95769	0.591000|0.591000	0.81541|0.81541	GCT|GGC	FRAS1	-	NULL	ENSG00000138759		0.522	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		-	0	74	0	G			79432599	1	tier1	-	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	79432599	G	A	79432599	3	1	130	1	0	0	0	0	1	0	0	0	6066	1203	42	3	10281	3	FRAS1	4	79432599	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	3494238	79432599	111721677	57	33338											
MTTP	4547	genome.wustl.edu	37	chr4	100540133	100540133	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgcttttttcttctaggaActtcagttacaatctggact	9	18	6	8	0	4	0	1	0	3	0	4	2	4	2	0	2	3	2	0	2	5	8			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:100540133A>T	ENST00000265517.5	+	16	2423	c.2220A>T	c.(2218-2220)gaA>gaT	p.E740D	MTTP_ENST00000457717.1_Missense_Mutation_p.E740D|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.E767D			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	740					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)	TCTTCTAGGAACTTCAGTTAC	0.358																																																	0													106	109	108					4																	100540133		2203	4300	6503	SO:0001583	missense	0				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.2220A>T	4.37:g.100540133A>T	ENSP00000265517:p.Glu740Asp		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E740D	ENST00000265517.5	37	c.2220	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	A	8.172	0.791890	0.16258	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.61859	0.07;0.09;0.09	5.68	1.92	0.25849	.	0.307416	0.35235	N	0.003344	T	0.33352	0.0860	N	0.22421	0.69	0.24560	N	0.993976	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.14868	-1.0457	10	0.12430	T	0.62	-30.8072	4.1763	0.10353	0.3454:0.0:0.4027:0.2519	.	767;740	E9PBP6;P55157	.;MTP_HUMAN	D	767;740;740	ENSP00000427679:E767D;ENSP00000400821:E740D;ENSP00000265517:E740D	ENSP00000265517:E740D	E	+	3	2	MTTP	100759156	0.811000	0.29063	0.998000	0.56505	0.865000	0.49528	-0.075000	0.11431	0.041000	0.15688	-0.242000	0.12053	GAA	MTTP	-	NULL	ENSG00000138823		0.358	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	-	0	90	0	A			100540133	1	tier1	-	no_errors	ENST00000265517	ensembl	human	known	74_37	missense	19.67	49	12	SNP	0.948	T	T	100540133	A	T	100540133	3	4	130	1	0	0	0	0	1	0	0	0	10002	40	2	5	2282	5	MTTP	4	100540133	Missense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	21107534	100540133	90614143	58	33339											
BANK1	55024	genome.wustl.edu	37	chr4	102942701	102942701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgacataaataatgagcaaGaaaatgattatgaagaggat	20	10	9	2	0	0	6	0	4	0	2	0	7	0	7	0	1	1	1	0	1	8	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:102942701G>C	ENST00000322953.4	+	8	1511	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q	BANK1_ENST00000444316.2_Missense_Mutation_p.E383Q|BANK1_ENST00000508653.1_Missense_Mutation_p.E280Q|BANK1_ENST00000504592.1_Missense_Mutation_p.E398Q|BANK1_ENST00000510950.1_3'UTR|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000428908.1_Missense_Mutation_p.E280Q	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	413					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TAATGAGCAAGAAAATGATTA	0.249																																																	0													28	32	31					4																	102942701		2168	4243	6411	SO:0001583	missense	0			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1237G>C	4.37:g.102942701G>C	ENSP00000320509:p.Glu413Gln		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.E413Q	ENST00000322953.4	37	c.1237	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753413	0.49362	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.18960	2.87;2.86;2.18;2.18;2.87	4.25	3.38	0.38709	.	0.453819	0.19630	N	0.109698	T	0.33265	0.0857	L	0.47716	1.5	0.25820	N	0.984292	D;D;D	0.76494	0.999;0.994;0.994	D;P;P	0.69479	0.964;0.827;0.827	T	0.06625	-1.0816	10	0.28530	T	0.3	.	9.8106	0.40820	0.0:0.0:0.7939:0.2061	.	280;413;398	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	Q	398;413;280;280;383	ENSP00000421443:E398Q;ENSP00000320509:E413Q;ENSP00000412748:E280Q;ENSP00000422314:E280Q;ENSP00000388817:E383Q	ENSP00000320509:E413Q	E	+	1	0	BANK1	103161724	1.000000	0.71417	0.929000	0.37066	0.975000	0.68041	2.186000	0.42593	1.059000	0.40554	0.655000	0.94253	GAA	BANK1	-	NULL	ENSG00000153064		0.249	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	-	0	43	0	G	NM_017935		102942701	1	tier1	-	no_errors	ENST00000322953	ensembl	human	known	74_37	missense	31.25	33	15	SNP	0.991	C	C	102942701	G	C	102942701	3	2	130	1	0	0	0	0	1	0	0	0	1310	943	33	5	1267	5	BANK1	4	102942701	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	2402568	102942701	88211575	59	33340											
TMEM155	132332	genome.wustl.edu	37	chr4	122682813	122682813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcttattctgtagaatcGcaccagatggcatcagttct	9	14	7	11	1	4	2	1	0	3	2	6	2	4	2	1	1	0	4	1	1	3	4	rs566239107		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:122682813G>A	ENST00000337677.5	-	5	650	c.92C>T	c.(91-93)gCg>gTg	p.A31V	TMEM155_ENST00000394394.1_Missense_Mutation_p.A31V|AC079341.1_ENST00000424958.1_5'Flank|TMEM155_ENST00000394396.1_Missense_Mutation_p.A31V	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	31						extracellular region (GO:0005576)				breast(1)|lung(5)	6						CTGTAGAATCGCACCAGATGG	0.423													G|||	1	0.000199681	0	0	5008	,	,		16724	0		0	False		,,,				2504	0.001																0													75	74	74					4																	122682813		2203	4300	6503	SO:0001583	missense	0			AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.92C>T	4.37:g.122682813G>A	ENSP00000336987:p.Ala31Val		D3DNW9|Q96NI2	Missense_Mutation	SNP	NULL	p.A31V	ENST00000337677.5	37	c.92	CCDS3721.1	4	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346109	0.24426	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394;ENST00000514885	T;T;T;T	0.57436	0.54;0.54;0.54;0.4	5.23	-1.09	0.09904	.	0.403409	0.18216	N	0.148047	T	0.22513	0.0543	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25572	-1.0128	10	0.87932	D	0	-0.4822	8.6103	0.33797	0.5243:0.0:0.4757:0.0	.	31	Q4W5P6	TM155_HUMAN	V	31	ENSP00000377919:A31V;ENSP00000336987:A31V;ENSP00000377917:A31V;ENSP00000422869:A31V	ENSP00000336987:A31V	A	-	2	0	TMEM155	122902263	0.034000	0.19679	0.097000	0.21041	0.994000	0.84299	-0.255000	0.08769	-0.047000	0.13423	-0.238000	0.12139	GCG	TMEM155	-	NULL	ENSG00000164112		0.423	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM155	HGNC	protein_coding	OTTHUMT00000256637.2		0	57	0	G	NM_152399		122682813	-1			no_errors	ENST00000337677	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.062	A	A	122682813	G	A	122682813	3	1	130	1	0	0	0	0	1	0	0	0	16119	1087	38	1	308	1	TMEM155	4	122682813	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	19740112	122682813	68471463	60	33341											
SPATA5	166378	genome.wustl.edu	37	chr4	124235188	124235188	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacgtttttatgaagattAtcaagagaagagtgggctgc	13	11	13	4	1	1	5	1	1	0	4	1	7	1	5	0	1	1	2	0	1	5	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:124235188A>T	ENST00000274008.4	+	16	2720	c.2651A>T	c.(2650-2652)tAt>tTt	p.Y884F		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	884					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TATGAAGATTATCAAGAGAAG	0.348																																																	0													81	75	77					4																	124235188		2203	4300	6503	SO:0001583	missense	0			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2651A>T	4.37:g.124235188A>T	ENSP00000274008:p.Tyr884Phe		C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.Y884F	ENST00000274008.4	37	c.2651	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	A	10.29	1.308746	0.23821	.	.	ENSG00000145375	ENST00000274008	D	0.94650	-3.48	5.5	4.3	0.51218	.	0.082046	0.50627	N	0.000111	D	0.87799	0.6268	N	0.04705	-0.18	0.38347	D	0.944227	P	0.45768	0.866	P	0.49252	0.604	D	0.84982	0.0889	10	0.06365	T	0.9	-24.4879	11.8409	0.52353	0.8688:0.0:0.0:0.1312	.	884	Q8NB90	SPAT5_HUMAN	F	884	ENSP00000274008:Y884F	ENSP00000274008:Y884F	Y	+	2	0	SPATA5	124454638	1.000000	0.71417	0.988000	0.46212	0.197000	0.23852	7.137000	0.77295	0.904000	0.36572	-0.490000	0.04691	TAT	SPATA5	-	superfamily_P-loop_NTPase	ENSG00000145375		0.348	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	HGNC	protein_coding	OTTHUMT00000256714.2		0	36	0	A	NM_145207		124235188	1			no_errors	ENST00000274008	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	124235188	A	T	124235188	3	4	130	1	0	0	0	0	1	0	0	0	15058	449	16	5	2713	5	SPATA5	4	124235188	Missense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	1552375	124235188	66919088	61	33342											
DDX60L	91351	genome.wustl.edu	37	chr4	169340523	169340523	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcaagcaacaggatttcaAaacattccggcactgtaata	16	8	8	9	1	1	0	1	0	0	0	2	2	2	1	1	2	4	4	1	2	6	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:169340523A>T	ENST00000511577.1	-	19	2787	c.2540T>A	c.(2539-2541)tTt>tAt	p.F847Y	DDX60L_ENST00000505890.1_Missense_Mutation_p.F847Y|DDX60L_ENST00000260184.7_Missense_Mutation_p.F847Y			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	847	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						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)		CAGGATTTCAAAACATTCCGG	0.363																																																	0													53	53	53					4																	169340523		2194	4300	6494	SO:0001583	missense	0			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.2540T>A	4.37:g.169340523A>T	ENSP00000422423:p.Phe847Tyr		Q96ND6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F847Y	ENST00000511577.1	37	c.2540		4	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936208	0.73442	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890	T;T;T	0.15603	2.41;2.41;2.41	3.64	3.64	0.41730	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.324362	0.19167	U	0.121043	T	0.35941	0.0949	M	0.66939	2.045	0.24342	N	0.994951	D;D	0.71674	0.991;0.998	D;P	0.63957	0.92;0.901	T	0.08911	-1.0699	10	0.66056	D	0.02	.	12.2389	0.54532	1.0:0.0:0.0:0.0	.	847;847	D6R906;Q5H9U9	.;DDX6L_HUMAN	Y	847	ENSP00000260184:F847Y;ENSP00000422423:F847Y;ENSP00000422202:F847Y	ENSP00000260184:F847Y	F	-	2	0	DDX60L	169577098	0.960000	0.32886	0.372000	0.25991	0.326000	0.28443	5.229000	0.65316	1.422000	0.47177	0.383000	0.25322	TTT	DDX60L	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000181381		0.363	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1		0	70	0	A	NM_001012967		169340523	-1			no_errors	ENST00000260184	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.998	T	T	169340523	A	T	169340523	3	4	130	1	0	0	0	0	1	0	0	0	4388	14	1	5	2660	5	DDX60L	4	169340523	Missense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	45105335	169340523	21813753	62	33343											
FBXO8	26269	genome.wustl.edu	37	chr4	175158640	175158640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcactaatattttgagcagCgcgacgggtatttcgaataa	12	13	9	7	4	1	1	1	1	0	0	2	3	1	1	0	1	2	2	0	1	5	8			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:175158640C>A	ENST00000393674.2	-	6	1745	c.883G>T	c.(883-885)Gct>Tct	p.A295S	FBXO8_ENST00000503293.1_Missense_Mutation_p.A254S	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	295					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TTTTGAGCAGCGCGACGGGTA	0.383																																																	0													95	95	95					4																	175158640		2203	4300	6503	SO:0001583	missense	0			AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"F-boxes /  "other""	13587	protein-coding gene	gene with protein product		605649	"F-box only protein 8"			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.883G>T	4.37:g.175158640C>A	ENSP00000377280:p.Ala295Ser		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_F-box_dom,smart_Sec7_dom,pfscan_F-box_dom,pfscan_Sec7_dom	p.A295S	ENST00000393674.2	37	c.883	CCDS3820.1	4	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421796	0.83559	.	.	ENSG00000164117	ENST00000393674;ENST00000503293;ENST00000296517	T;T	0.53640	0.61;0.61	5.52	5.52	0.82312	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	L	0.56199	1.76	0.80722	D	1	D;D	0.57899	0.977;0.981	P;P	0.58721	0.688;0.844	T	0.61559	-0.7038	10	0.51188	T	0.08	.	19.442	0.94824	0.0:1.0:0.0:0.0	.	254;295	G5E9Z0;Q9NRD0	.;FBX8_HUMAN	S	295;254;208	ENSP00000377280:A295S;ENSP00000422905:A254S	ENSP00000296517:A208S	A	-	1	0	FBXO8	175395215	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.001000	0.76297	2.593000	0.87608	0.655000	0.94253	GCT	FBXO8	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000164117		0.383	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO8	HGNC	protein_coding	OTTHUMT00000362085.2		0	42	0	C	NM_012180		175158640	-1			no_errors	ENST00000393674	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	A	A	175158640	C	A	175158640	3	1	130	1	0	0	0	0	1	0	0	0	5783	768	27	2	80	2	FBXO8	4	175158640	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	5818117	175158640	15995636	63	33344											
UFSP2	55325	genome.wustl.edu	37	chr4	186336464	186336464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatttttccatgtcagttaGttgattatgaattgcatcaa	12	17	6	6	0	2	2	2	2	0	0	3	2	3	2	1	0	1	3	1	0	4	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr4:186336464G>T	ENST00000264689.6	-	6	645	c.529C>A	c.(529-531)Cta>Ata	p.L177I	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'Flank	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	177						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)		ATGTCAGTTAGTTGATTATGA	0.323																																																	0													53	52	52					4																	186336464		2203	4300	6503	SO:0001583	missense	0			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.529C>A	4.37:g.186336464G>T	ENSP00000264689:p.Leu177Ile		Q6IA77|Q96FS3	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2	p.L177I	ENST00000264689.6	37	c.529	CCDS3842.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.04|17.04	3.286220|3.286220	0.59867|0.59867	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000264689|ENST00000511485	T|.	0.47869|.	0.83|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.087523|.	0.48286|.	D|.	0.000187|.	T|T	0.61986|0.61986	0.2391|0.2391	L|L	0.48362|0.48362	1.52|1.52	0.52099|0.52099	D|D	0.999944|0.999944	P;B|.	0.43169|.	0.8;0.414|.	B;B|.	0.42361|.	0.177;0.385|.	T|T	0.57952|0.57952	-0.7722|-0.7722	10|5	0.32370|.	T|.	0.25|.	-20.6591|-20.6591	14.0338|14.0338	0.64632|0.64632	0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0	.|.	177;77|.	Q9NUQ7;B3KRI4|.	UFSP2_HUMAN;.|.	I|N	177|90	ENSP00000264689:L177I|.	ENSP00000264689:L177I|.	L|T	-|-	1|2	2|0	UFSP2|UFSP2	186573458|186573458	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.992000|0.992000	0.81027|0.81027	3.199000|3.199000	0.51043|0.51043	2.681000|2.681000	0.91329|0.91329	0.650000|0.650000	0.86243|0.86243	CTA|ACT	UFSP2	-	NULL	ENSG00000109775		0.323	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFSP2	HGNC	protein_coding	OTTHUMT00000360589.2	-	0	171	0	G	NM_018359		186336464	-1	tier1	-	no_errors	ENST00000264689	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	186336464	G	T	186336464	3	4	130	1	0	0	0	0	1	0	0	0	16987	1020	36	3	908	3	UFSP2	4	186336464	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	11177824	186336464	4817812	64	33345											
SLC6A19	340024	genome.wustl.edu	37	chr5	1216723	1216723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gtccatcatcaacggcttcaCatcggtgtatgtggccatcg	8	11	10	12	3	3	0	3	0	0	0	6	0	4	0	2	3	1	2	2	3	2	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:1216723C>T	ENST00000304460.10	+	7	994	c.938C>T	c.(937-939)aCa>aTa	p.T313I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	313					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)			AACGGCTTCACATCGGTGTAT	0.587																																																	0													303	216	246					5																	1216723		2203	4300	6503	SO:0001583	missense	0			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.938C>T	5.37:g.1216723C>T	ENSP00000305302:p.Thr313Ile		A8K446	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.T313I	ENST00000304460.10	37	c.938	CCDS34130.1	5	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588703	0.66105	.	.	ENSG00000174358	ENST00000304460	T	0.74526	-0.85	4.61	4.61	0.57282	.	0.048671	0.85682	D	0.000000	D	0.89241	0.6659	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.92352	0.5890	10	0.87932	D	0	.	17.4396	0.87562	0.0:1.0:0.0:0.0	.	313	Q695T7	S6A19_HUMAN	I	313	ENSP00000305302:T313I	ENSP00000305302:T313I	T	+	2	0	SLC6A19	1269723	1.000000	0.71417	0.916000	0.36221	0.018000	0.09664	7.583000	0.82559	2.112000	0.64535	0.491000	0.48974	ACA	SLC6A19	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000174358		0.587	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1	-	0	54	0	C	XM_291120		1216723	1	tier1	-	no_errors	ENST00000304460	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	1216723	C	T	1216723	3	4	130	1	0	0	0	0	1	0	0	0	14727	478	17	3	964	3	SLC6A19	5	1216723	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09		1216723	179698537	65	33346											
CLPTM1L	81037	genome.wustl.edu	37	chr5	1341903	1341903	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacggcaggaccccagcGtgatggaggaagatgtaggc	10	5	16	10	2	0	2	0	1	0	1	0	5	0	5	3	5	2	2	3	5	2	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:1341903G>A	ENST00000320895.5	-	3	593	c.336C>T	c.(334-336)caC>caT	p.H112H	CLPTM1L_ENST00000320927.6_Silent_p.H112H|CLPTM1L_ENST00000507807.1_5'Flank	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	112					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)		GGACCCCAGCGTGATGGAGGA	0.512																																																	0													139	109	120					5																	1341903		2203	4300	6503	SO:0001819	synonymous_variant	0			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.336C>T	5.37:g.1341903G>A			D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	pfam_CLPTM1	p.H112	ENST00000320895.5	37	c.336	CCDS3862.1	5																																																																																			CLPTM1L	-	pfam_CLPTM1	ENSG00000049656		0.512	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	-	0	60	0	G	NM_030782		1341903	-1	tier1	rs138976877	no_errors	ENST00000320895	ensembl	human	known	74_37	silent	35.71	27	15	SNP	0.161	A	A	1341903	G	A	1341903	2	1	130	1	0	0	0	0	0	0	0	1	3562	1136	40	1		1	CLPTM1L	5	1341903	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	125180	1341903	179573357	66	33347											
FAM105B	90268	genome.wustl.edu	37	chr5	14687651	14687651	+	Nonsense_Mutation	SNP	A	A	T	1	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	taccagaaaaactcataagcAaatacaactggatcaagcaa	21	6	5	9	0	2	1	2	0	0	1	2	2	2	2	1	1	6	2	1	1	9	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:14687651A>T	ENST00000284274.4	+	5	568	c.490A>T	c.(490-492)Aaa>Taa	p.K164*		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		164	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					ACTCATAAGCAAATACAACTG	0.373																																																	0													129	133	132					5																	14687651		1837	4094	5931	SO:0001587	stop_gained	0																														ENST00000284274.4:c.490A>T	5.37:g.14687651A>T	ENSP00000284274:p.Lys164*		D3DTD3|Q8NAS0|Q96IA3	Nonsense_Mutation	SNP	prints_FAM105,prints_FAM105B,prints_FAM105A	p.K164*	ENST00000284274.4	37	c.490	CCDS43302.1	5	.	.	.	.	.	.	.	.	.	.	A	34	5.411051	0.96072	.	.	ENSG00000154124	ENST00000284274	.	.	.	6.04	6.04	0.98038	.	0.362601	0.33772	N	0.004571	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.291	14.3294	0.66545	1.0:0.0:0.0:0.0	.	.	.	.	X	164	.	ENSP00000284274:K164X	K	+	1	0	FAM105B	14740651	0.999000	0.42202	0.107000	0.21349	0.955000	0.61496	6.015000	0.70791	2.317000	0.78254	0.460000	0.39030	AAA	FAM105B	-	prints_FAM105B	ENSG00000154124		0.373	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105B	HGNC	protein_coding	OTTHUMT00000366012.1		0	87	0	A			14687651	1			no_errors	ENST00000284274	ensembl	human	known	74_37	nonsense	5.63	66	4	SNP	0.352	T	T	14687651	A	T	14687651	4	4	130	1	0	0	0	0	0	1	0	0	5407	131	5	5	508	5	FAM105B	5	14687651	Nonsense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	13345748	14687651	166227609	67	33348											
MIER3	166968	genome.wustl.edu	37	chr5	56234765	56234765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcacttggggaactatttGcactggaatttgcaactgct	9	14	10	8	0	1	0	1	0	0	0	1	2	1	2	0	3	5	4	0	3	4	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:56234765G>T	ENST00000381199.3	-	4	270	c.260C>A	c.(259-261)gCa>gAa	p.A87E	MIER3_ENST00000381226.3_Missense_Mutation_p.A92E|MIER3_ENST00000381213.3_Missense_Mutation_p.A87E|AC016644.1_ENST00000438553.1_RNA|MIER3_ENST00000409421.1_Missense_Mutation_p.A24E			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	87					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)		GGAACTATTTGCACTGGAATT	0.418																																																	0													178	169	172					5																	56234765		2203	4300	6503	SO:0001583	missense	0			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.260C>A	5.37:g.56234765G>T	ENSP00000370596:p.Ala87Glu		B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.A87E	ENST00000381199.3	37	c.260		5	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507211	0.64410	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421;ENST00000336942	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.63	5.63	0.86233	.	0.096990	0.64402	D	0.000001	T	0.20820	0.0501	N	0.16368	0.405	0.49915	D	0.999834	P;P;B	0.47910	0.675;0.902;0.264	B;P;B	0.46718	0.133;0.525;0.09	T	0.01566	-1.1323	10	0.02654	T	1	-23.3989	19.6818	0.95967	0.0:0.0:1.0:0.0	.	87;92;87	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	E	92;87;87;24;60	ENSP00000370624:A92E;ENSP00000370611:A87E;ENSP00000370596:A87E;ENSP00000386584:A24E;ENSP00000337027:A60E	ENSP00000337027:A60E	A	-	2	0	MIER3	56270522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.366000	0.59492	2.650000	0.89964	0.563000	0.77884	GCA	MIER3	-	NULL	ENSG00000155545		0.418	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	MIER3	HGNC	protein_coding	OTTHUMT00000132523.2	-	0	79	0	G	NM_152622		56234765	-1	tier1	-	no_errors	ENST00000381199	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	56234765	G	T	56234765	3	4	130	1	0	0	0	0	1	0	0	0	9620	1319	46	3	1429	3	MIER3	5	56234765	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	41547114	56234765	124680495	68	33349											
MAST4	375449	genome.wustl.edu	37	chr5	66396405	66396405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacacgccgatgcgcccccGttcccgaagtctgaggtgtg	7	7	13	14	5	1	1	0	1	1	0	2	4	2	1	4	1	2	1	4	1	2	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:66396405G>A	ENST00000403625.2	+	8	1350	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H	MAST4_ENST00000405643.1_Missense_Mutation_p.R173H|MAST4_ENST00000261569.7_Missense_Mutation_p.R158H|MAST4_ENST00000490016.2_Missense_Mutation_p.R163H|MAST4_ENST00000404260.3_Missense_Mutation_p.R355H|MAST4_ENST00000403666.1_Missense_Mutation_p.R163H	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	355						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)		ATGCGCCCCCGTTCCCGAAGT	0.473																																																	0													73	75	75					5																	66396405		2056	4182	6238	SO:0001583	missense	0			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.1055G>A	5.37:g.66396405G>A	ENSP00000385727:p.Arg352His		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R355H	ENST00000403625.2	37	c.1064	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.476616	0.96291	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000436277;ENST00000432399	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	6.17	6.17	0.99709	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.64402	U	0.000006	T	0.78477	0.4289	M	0.92738	3.34	0.48830	D	0.999715	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	T	0.81797	-0.0768	10	0.87932	D	0	-8.329	20.8794	0.99867	0.0:0.0:1.0:0.0	.	173;355;158;163;163	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	H	355;352;163;163;173;173;158;158;158	ENSP00000385048:R355H;ENSP00000385727:R352H;ENSP00000421739:R163H;ENSP00000384313:R163H;ENSP00000384099:R173H;ENSP00000261569:R158H;ENSP00000392478:R158H	ENSP00000261569:R158H	R	+	2	0	MAST4	66432161	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGT	MAST4	-	pfam_MA_Ser/Thr_Kinase_dom	ENSG00000069020		0.473	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2		0	87	0	G			66396405	1			no_errors	ENST00000404260	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	66396405	G	A	66396405	3	1	130	1	0	0	0	0	1	0	0	0	9365	1145	40	1	1215	1	MAST4	5	66396405	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	10161640	66396405	114518855	69	33350											
PIK3R1	5295	genome.wustl.edu	37	chr5	67588172	67588172	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacaagatgctgaatggtaCtggggagatatctcgaggta	12	11	13	5	1	1	3	0	1	1	2	2	5	1	3	0	4	3	3	0	4	6	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:67588172C>A	ENST00000521381.1	+	8	1618	c.1002C>A	c.(1000-1002)taC>taA	p.Y334*	PIK3R1_ENST00000523872.1_5'Flank|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.Y34*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.Y64*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.Y334*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.Y334*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.Y334*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	334	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Y334*(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CTGAATGGTACTGGGGAGATA	0.393			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	3	Substitution - Nonsense(1)|Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)|endometrium(1)											157	147	150					5																	67588172		2203	4300	6503	SO:0001587	stop_gained	0			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.1002C>A	5.37:g.67588172C>A	ENSP00000428056:p.Tyr334*		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.Y334*	ENST00000521381.1	37	c.1002	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	C	38	6.676016	0.97755	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000522084;ENST00000320694;ENST00000336483	.	.	.	5.13	5.13	0.70059	.	0.057954	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0037	19.115	0.93334	0.0:1.0:0.0:0.0	.	.	.	.	X	334;334;334;334;64;64;34;64	.	ENSP00000274335:Y334X	Y	+	3	2	PIK3R1	67623928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.882000	0.69714	2.822000	0.97130	0.563000	0.77884	TAC	PIK3R1	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	ENSG00000145675		0.393	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2		0	99	0	C	NM_181504		67588172	1			no_errors	ENST00000396611	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	A	A	67588172	C	A	67588172	4	1	130	1	0	0	0	0	0	1	0	0	11957	576	20	3	1158	3	PIK3R1	5	67588172	Nonsense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	1191767	67588172	113327088	70	33351											
HOMER1	9456	genome.wustl.edu	37	chr5	78671920	78671921	+	Frame_Shift_Ins	INS	-	-	T																															aatttctaagagtgtcttcaINSggttattgcgaaaagcttct																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:78671920_78671921insT	ENST00000334082.6	-	9	2418_2419	c.976_977insA	c.(976-978)ctgfs	p.L326fs	HOMER1_ENST00000535690.1_Frame_Shift_Ins_p.L152fs|HOMER1_ENST00000508576.1_3'UTR|HOMER1_ENST00000282260.6_Frame_Shift_Ins_p.L196fs	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	326					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)		GAGTGTCTTCAGGTTATTGCGA	0.396																																																	0																																										SO:0001589	frameshift_variant	0			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.976_977insA	5.37:g.78671920_78671921insT	ENSP00000334382:p.Leu326fs		B2R688|O96003|Q86YM5	Frame_Shift_Ins	INS	pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.L326fs	ENST00000334082.6	37	c.977_976	CCDS43335.1	5																																																																																			HOMER1	-	NULL	ENSG00000152413		0.396	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOMER1	HGNC	protein_coding	OTTHUMT00000258856.1		0	56	0	-	NM_004272		78671921	-1	tier1		no_errors	ENST00000334082	ensembl	human	known	74_37	frame_shift_ins	11.11	16	2	INS	1.000:1.000	T	T	78671921	-	T	78671920	7	5	130	1	0	1	1	0	0	0	0	0	7305	188	7	0	91	0	HOMER1	5	78671920	Frame_Shift_Ins	INS	-	TCGA-LN-A8I0-01A-11D-A36J-09	11083748	78671920	102243340	71	33352											
FEM1C	56929	genome.wustl.edu	37	chr5	114860292	114860292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gttgtcatccgagtctctgaCgttcacatcagcaccacatt	9	12	7	13	2	4	1	3	1	1	0	6	2	5	1	2	0	1	3	2	0	0	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:114860292C>T	ENST00000274457.3	-	3	2128	c.1567G>A	c.(1567-1569)Gtc>Atc	p.V523I		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	523					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)		GAGTCTCTGACGTTCACATCA	0.428																																																	0													204	190	195					5																	114860292		2202	4300	6502	SO:0001583	missense	0				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.1567G>A	5.37:g.114860292C>T	ENSP00000274457:p.Val523Ile		B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V523I	ENST00000274457.3	37	c.1567	CCDS4118.1	5	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314804	0.40996	.	.	ENSG00000145780	ENST00000274457	T	0.63913	-0.07	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.111463	0.64402	D	0.000007	T	0.52419	0.1733	N	0.21324	0.655	0.38170	D	0.939309	B	0.13145	0.007	B	0.12156	0.007	T	0.49643	-0.8918	10	0.42905	T	0.14	-22.2614	19.5061	0.95116	0.0:1.0:0.0:0.0	.	523	Q96JP0	FEM1C_HUMAN	I	523	ENSP00000274457:V523I	ENSP00000274457:V523I	V	-	1	0	FEM1C	114888191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.522000	0.45572	2.591000	0.87537	0.655000	0.94253	GTC	FEM1C	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145780		0.428	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1C	HGNC	protein_coding	OTTHUMT00000250857.3		0	77	0	C	NM_020177		114860292	-1			no_errors	ENST00000274457	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	114860292	C	T	114860292	3	4	130	1	0	0	0	0	1	0	0	0	5833	536	19	1	290	1	FEM1C	5	114860292	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	36188372	114860292	66054968	72	33353											
PSD2	84249	genome.wustl.edu	37	chr5	139192910	139192910	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaggttggatggtcccgggGagccagatgtgcgggatggc	7	7	19	8	2	0	1	0	0	0	1	1	4	1	4	2	7	2	1	2	7	0	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:139192910G>T	ENST00000274710.3	+	3	593	c.388G>T	c.(388-390)Gag>Tag	p.E130*		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	130					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)			TGGTCCCGGGGAGCCAGATGT	0.602																																																	0													77	77	77					5																	139192910		2203	4299	6502	SO:0001587	stop_gained	0			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.388G>T	5.37:g.139192910G>T	ENSP00000274710:p.Glu130*		D3DQD3|Q8N3J8	Nonsense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.E130*	ENST00000274710.3	37	c.388	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.730311	0.96856	.	.	ENSG00000146005	ENST00000274710	.	.	.	3.99	3.99	0.46301	.	0.376328	0.20847	N	0.084594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	13.2809	0.60214	0.0:0.0:1.0:0.0	.	.	.	.	X	130	.	ENSP00000274710:E130X	E	+	1	0	PSD2	139173094	1.000000	0.71417	0.989000	0.46669	0.658000	0.38924	5.722000	0.68485	2.214000	0.71695	0.462000	0.41574	GAG	PSD2	-	NULL	ENSG00000146005		0.602	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	-	0	107	0	G	NM_032289		139192910	1	tier1	-	no_errors	ENST00000274710	ensembl	human	known	74_37	nonsense	52.94	16	18	SNP	0.986	T	T	139192910	G	T	139192910	4	4	130	1	0	0	0	0	0	1	0	0	12689	1175	41	3	394	3	PSD2	5	139192910	Nonsense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	24332618	139192910	41722350	73	33354											
JAKMIP2	9832	genome.wustl.edu	37	chr5	147024553	147024553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttcggtttcccgcacacGttttaactgggaagaaataa	11	13	8	9	3	0	1	0	0	0	1	2	2	1	2	1	2	1	3	1	2	4	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:147024553G>A	ENST00000265272.5	-	6	1410	c.943C>T	c.(943-945)Cgt>Tgt	p.R315C	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R315C|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R273C	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	315			R -> C (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			Golgi apparatus (GO:0005794)		p.R315C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGCACACGTTTTAACTGG	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											126	127	127					5																	147024553		2203	4300	6503	SO:0001583	missense	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.943C>T	5.37:g.147024553G>A	ENSP00000265272:p.Arg315Cys		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.R315C	ENST00000265272.5	37	c.943	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564585	0.86439	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	D;D;D	0.83755	-1.76;-1.76;-1.76	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.90297	0.6965	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.988;0.988;0.988	D	0.90925	0.4786	10	0.87932	D	0	.	14.5666	0.68182	0.0:0.0:0.8539:0.1461	.	273;315;315;315	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	C	315;315;273;315	ENSP00000421398:R315C;ENSP00000265272:R315C;ENSP00000328989:R273C	ENSP00000265272:R315C	R	-	1	0	JAKMIP2	147004746	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.406000	0.80017	2.741000	0.93983	0.585000	0.79938	CGT	JAKMIP2	-	NULL	ENSG00000176049		0.507	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1		0	55	0	G	NM_014790		147024553	-1			no_errors	ENST00000265272	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	147024553	G	A	147024553	3	1	130	1	0	0	0	0	1	0	0	0	7968	1145	40	1	1553	1	JAKMIP2	5	147024553	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	7831643	147024553	33890707	74	33355											
FBXO38	81545	genome.wustl.edu	37	chr5	147793797	147793798	+	Frame_Shift_Ins	INS	-	-	T																															gatgaaagcagtcaatgaagINSttttttcctgtatcaaatat																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:147793797_147793798insT	ENST00000340253.5	+	10	1360_1361	c.1192_1193insT	c.(1192-1194)gttfs	p.V398fs	FBXO38_ENST00000513826.1_Frame_Shift_Ins_p.V398fs|FBXO38_ENST00000296701.6_Frame_Shift_Ins_p.V398fs|FBXO38_ENST00000394370.3_Frame_Shift_Ins_p.V398fs			Q6PIJ6	FBX38_HUMAN	F-box protein 38	398					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)			AGTCAATGAAGTTTTTTCCTGT	0.386																																																	0																																										SO:0001589	frameshift_variant	0			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.1198dupT	5.37:g.147793803_147793803dupT	ENSP00000342023:p.Val398fs		Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Frame_Shift_Ins	INS	superfamily_F-box_dom	p.S400fs	ENST00000340253.5	37	c.1192_1193		5																																																																																			FBXO38	-	NULL	ENSG00000145868		0.386	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	HGNC	protein_coding	OTTHUMT00000252185.2		0	37	0	-	NM_030793		147793798	1	tier1		no_errors	ENST00000340253	ensembl	human	known	74_37	frame_shift_ins	8.70	21	2	INS	1.000:1.000	T	T	147793798	-	T	147793797	7	5	130	1	0	1	1	0	0	0	0	0	5768	1029	36	0	1226	0	FBXO38	5	147793797	Frame_Shift_Ins	INS	-	TCGA-LN-A8I0-01A-11D-A36J-09	769244	147793797	33121463	75	33356											
GRPEL2	134266	genome.wustl.edu	37	chr5	148725164	148725164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgcctactggcctggagtgCcgcgtgggagagcaagtaag	8	6	17	10	3	0	1	0	0	0	1	0	3	0	2	3	3	3	2	3	3	3	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:148725164C>T	ENST00000329271.3	+	1	172	c.62C>T	c.(61-63)gCc>gTc	p.A21V	GRPEL2_ENST00000513661.1_Missense_Mutation_p.A21V|GRPEL2_ENST00000416916.2_Missense_Mutation_p.A21V|GRPEL2-AS1_ENST00000521295.1_RNA	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	21					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGAGTGCCGCGTGGGAG	0.677																																																	0													15	18	17					5																	148725164		2200	4299	6499	SO:0001583	missense	0			AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.62C>T	5.37:g.148725164C>T	ENSP00000329558:p.Ala21Val		B4DFA6|Q49AJ6	Missense_Mutation	SNP	pfam_GrpE,superfamily_GrpE_head,prints_GrpE	p.A21V	ENST00000329271.3	37	c.62	CCDS4295.1	5	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515324	0.44763	.	.	ENSG00000164284	ENST00000513661;ENST00000329271;ENST00000416916	.	.	.	4.96	3.17	0.36434	.	0.299164	0.27122	N	0.020837	T	0.22666	0.0547	L	0.27053	0.805	0.09310	N	1	B;B	0.33612	0.419;0.013	B;B	0.34452	0.183;0.007	T	0.10870	-1.0611	9	0.31617	T	0.26	-3.6847	7.0275	0.24948	0.0:0.7334:0.1736:0.093	.	21;21	B4DFA6;Q8TAA5	.;GRPE2_HUMAN	V	21	.	ENSP00000329558:A21V	A	+	2	0	GRPEL2	148705357	0.003000	0.15002	0.001000	0.08648	0.011000	0.07611	1.109000	0.31135	0.789000	0.33779	0.561000	0.74099	GCC	GRPEL2	-	NULL	ENSG00000164284		0.677	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPEL2	HGNC	protein_coding	OTTHUMT00000252327.1		0	84	0	C	NM_152407		148725164	1			no_errors	ENST00000329271	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.001	T	T	148725164	C	T	148725164	3	4	130	1	0	0	0	0	1	0	0	0	6834	739	26	3	64	3	GRPEL2	5	148725164	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	931367	148725164	32190096	76	33357											
PDE6A	5145	genome.wustl.edu	37	chr5	149324057	149324057	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcaggagatcaaagatGatttcgctctcctccatgct	9	11	8	13	2	2	3	1	1	1	2	6	4	4	3	3	1	1	3	3	1	1	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:149324057G>T	ENST00000255266.5	-	1	299	c.180C>A	c.(178-180)atC>atA	p.I60I		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	60					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GATCAAAGATGATTTCGCTCT	0.542																																																	0													73	71	71					5																	149324057		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.180C>A	5.37:g.149324057G>T			Q0P638	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.I60	ENST00000255266.5	37	c.180	CCDS4299.1	5																																																																																			PDE6A	-	NULL	ENSG00000132915		0.542	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	-	0	26	0	G			149324057	-1	tier1	-	no_errors	ENST00000255266	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.979	T	T	149324057	G	T	149324057	2	4	130	1	0	0	0	0	0	0	0	1	11684	1280	45	3		3	PDE6A	5	149324057	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	598893	149324057	31591203	77	33358											
DBN1	1627	genome.wustl.edu	37	chr5	176885170	176885170	+	Silent	SNP	A	A	T	1	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	agagttggggtctggggggcAgccagggactccccttccac	6	7	16	12	0	1	1	0	0	1	1	3	2	3	2	4	6	1	2	4	6	0	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:176885170A>T	ENST00000309007.5	-	12	1884	c.1665T>A	c.(1663-1665)gcT>gcA	p.A555A	DBN1_ENST00000292385.5_Silent_p.A557A|DBN1_ENST00000393563.4_Silent_p.A287A|DBN1_ENST00000512501.1_Silent_p.A287A|DBN1_ENST00000393565.1_Silent_p.A601A	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	555					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGGGGGGCAGCCAGGGACT	0.637																																																	0													30	36	34					5																	176885170		2199	4293	6492	SO:0001819	synonymous_variant	0				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1665T>A	5.37:g.176885170A>T			A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.A557	ENST00000309007.5	37	c.1671	CCDS4420.1	5																																																																																			DBN1	-	NULL	ENSG00000113758		0.637	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	HGNC	protein_coding	OTTHUMT00000253429.2	-	0	128	0	A	NM_080881		176885170	-1	tier1	-	no_errors	ENST00000292385	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.958	T	T	176885170	A	T	176885170	2	4	130	1	0	0	0	0	0	0	0	1	4261	175	7	5		5	DBN1	5	176885170	Silent	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	27561113	176885170	4030090	78	33359											
B4GALT7	11285	genome.wustl.edu	37	chr5	177036004	177036004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaccagaagcgcatcgcaGctcaaaaacaggtgctggca	13	4	13	11	2	1	1	1	0	0	1	2	2	1	2	1	3	4	5	1	3	3	0	rs538600624		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr5:177036004G>T	ENST00000029410.5	+	5	928	c.817G>T	c.(817-819)Gct>Tct	p.A273S	RP11-1277A3.1_ENST00000499900.2_RNA	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	273					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	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)			GCGCATCGCAGCTCAAAAACA	0.592																																																	0													49	47	48					5																	177036004		2203	4300	6503	SO:0001583	missense	0			AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"Beta 4-glycosyltransferases"	930	protein-coding gene	gene with protein product	"galactosyltransferase I"	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.817G>T	5.37:g.177036004G>T	ENSP00000029410:p.Ala273Ser		B3KN39|Q9UHN2	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.A273S	ENST00000029410.5	37	c.817	CCDS4429.1	5	.	.	.	.	.	.	.	.	.	.	G	7.593	0.671106	0.14776	.	.	ENSG00000027847	ENST00000029410;ENST00000541139	T	0.34667	1.35	5.55	4.65	0.58169	.	0.101746	0.64402	D	0.000003	T	0.22437	0.0541	N	0.22421	0.69	0.58432	D	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.04976	-1.0914	10	0.07990	T	0.79	-14.7393	13.5758	0.61873	0.0:0.0:0.8443:0.1557	.	273	Q9UBV7	B4GT7_HUMAN	S	273;159	ENSP00000029410:A273S	ENSP00000029410:A273S	A	+	1	0	B4GALT7	176968610	0.989000	0.36119	0.994000	0.49952	0.316000	0.28119	2.117000	0.41939	2.615000	0.88500	0.455000	0.32223	GCT	B4GALT7	-	pfam_Galactosyl_T_C	ENSG00000027847		0.592	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT7	HGNC	protein_coding	OTTHUMT00000253421.1		0	65	0	G	NM_007255		177036004	1			no_errors	ENST00000029410	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.977	T	T	177036004	G	T	177036004	3	4	130	1	0	0	0	0	1	0	0	0	1277	971	34	3	835	3	B4GALT7	5	177036004	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	150834	177036004	3879256	79	33360											
MAS1L	116511	genome.wustl.edu	37	chr6	29455082	29455082	+	Frame_Shift_Del	DEL	G	G	-																															tatgttgatgcaaaaaggcaGgccccagatgagggtgcaga																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr6:29455082delG	ENST00000377127.3	-	1	656	c.598delC	c.(598-600)ctgfs	p.L200fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	200					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						CAAAAAGGCAGGCCCCAGATG	0.458																																					NSCLC(153;755 1987 3859 11251 32945)												0													64	58	60					6																	29455082		2203	4300	6503	SO:0001589	frameshift_variant	0			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.598delC	6.37:g.29455082delG	ENSP00000366331:p.Leu200fs		Q5SUN5	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L200fs	ENST00000377127.3	37	c.598	CCDS4661.1	6																																																																																			MAS1L	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204687		0.458	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2		0	51	0	G	NM_052967		29455082	-1	tier1		no_errors	ENST00000377127	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	0.008	-	-	29455082	G	-	29455082	7	5	130	1	0	1	0	1	0	0	0	0	9359	991	35	0	540	0	MAS1L	6	29455082	Frame_Shift_Del	DEL	G	TCGA-LN-A8I0-01A-11D-A36J-09		29455082	141659985	80	33361											
KIAA1949	170954	genome.wustl.edu	37	chr6	30652836	30652836	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatgcccctctcgccatcTtccacaggcctctgctctgc	4	12	6	19	1	5	0	1	0	4	0	7	0	6	0	5	1	3	1	5	1	0	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr6:30652836T>C	ENST00000274853.3	-	1	2836	c.960A>G	c.(958-960)gaA>gaG	p.E320E	PPP1R18_ENST00000399199.3_Silent_p.E320E|PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	320						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCTCGCCATCTTCCACAGGCC	0.582																																																	0													84	100	94					6																	30652836		1454	2687	4141	SO:0001819	synonymous_variant	0			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.960A>G	6.37:g.30652836T>C			A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Silent	SNP	NULL	p.E320	ENST00000274853.3	37	c.960	CCDS43444.1	6																																																																																			PPP1R18	-	NULL	ENSG00000146112		0.582	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R18	HGNC	protein_coding	OTTHUMT00000076498.2	-	0	25	0	T	NM_133471		30652836	-1	tier1	-	no_errors	ENST00000274853	ensembl	human	known	74_37	silent	44.44	5	4	SNP	0.987	C	C	30652836	T	C	30652836	2	2	130	1	0	0	0	0	0	0	0	1	8290	1606	56	4		4	KIAA1949	6	30652836	Silent	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	1197754	30652836	140462231	81	33362											
NOTCH4	4855	genome.wustl.edu	37	chr6	32183074	32183074	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagggcttccatcaggacaGaggcagttggccttgtcttt	7	11	12	11	0	2	1	1	0	1	1	3	2	3	2	3	4	0	3	3	4	0	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr6:32183074G>C	ENST00000375023.3	-	12	2088	c.1950C>G	c.(1948-1950)ctC>ctG	p.L650L	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	650	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATCAGGACAGAGGCAGTTGG	0.602																																																	0													110	67	82					6																	32183074		1511	2709	4220	SO:0001819	synonymous_variant	0				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.1950C>G	6.37:g.32183074G>C			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.L650	ENST00000375023.3	37	c.1950	CCDS34420.1	6																																																																																			NOTCH4	-	pirsf_Notch,smart_EG-like_dom	ENSG00000204301		0.602	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	-	0	76	0	G			32183074	-1	tier1	-	no_errors	ENST00000375023	ensembl	human	known	74_37	silent	32.43	25	12	SNP	0.998	C	C	32183074	G	C	32183074	2	2	130	1	0	0	0	0	0	0	0	1	10590	929	33	5		5	NOTCH4	6	32183074	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	1530238	32183074	138931993	82	33363											
HLA-DRB1	3123	genome.wustl.edu	37	chr6	32551952	32551953	+	Frame_Shift_Del	DEL	CC	CC	-																															gcagtaggtgtccaccgcggCccgcgcctgctccaggatgt																								rs9281873|rs370743542|rs67187877|rs17883297|rs17884749		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr6:32551952_32551953delCC	ENST00000360004.5	-	2	408_409	c.303_304delGG	c.(301-306)cgggccfs	p.A103fs		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	103	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						TCCACCGCGGCCCGCGCCTGCT	0.683										Multiple Myeloma(14;0.17)																																							0																																										SO:0001589	frameshift_variant	0			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.303_304delGG	6.37:g.32551952_32551953delCC	ENSP00000353099:p.Ala103fs		P01914|Q9MYF5	Frame_Shift_Del	DEL	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.A102fs	ENST00000360004.5	37	c.304_303	CCDS47409.1	6																																																																																			HLA-DRB1	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000196126		0.683	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3		0	10	0	CC	NM_002124		32551953	-1	tier1		no_errors	ENST00000360004	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.195:0.185	-	-	32551953	CC	-	32551952	7	5	130	1	0	1	0	1	0	0	0	0	7235	739	26	0	516	0	HLA-DRB1	6	32551952	Frame_Shift_Del	DEL	CC	TCGA-LN-A8I0-01A-11D-A36J-09	368878	32551952	138563115	83	33364											
MRPS18A	55168	genome.wustl.edu	37	chr6	43655404	43655404	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgctgggacgcatgactcaCcttccctgaacccgcgagct	7	9	10	15	3	1	2	1	2	0	0	2	4	2	3	3	1	3	3	3	1	1	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr6:43655404C>G	ENST00000372133.3	-	1	124		c.e1+1		MRPS18A_ENST00000372116.1_Splice_Site	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A						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)			GCATGACTCACCTTCCCTGAA	0.632																																																	0													11	12	11					6																	43655404		2183	4256	6439	SO:0001630	splice_region_variant	0			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.112+1G>C	6.37:g.43655404C>G			A6XND3|Q5QPA4	Splice_Site	SNP	-	e1+1	ENST00000372133.3	37	c.112+1	CCDS4906.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999506	0.74818	.	.	ENSG00000096080	ENST00000372133;ENST00000372118;ENST00000372116;ENST00000427312	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8607	0.63559	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPS18A	43763382	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.513000	0.53414	2.658000	0.90341	0.655000	0.94253	.	MRPS18A	-	-	ENSG00000096080		0.632	MRPS18A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18A	HGNC	protein_coding	OTTHUMT00000040697.1		0	145	0	C	NM_018135	Intron	43655404	-1			no_errors	ENST00000372133	ensembl	human	known	74_37	splice_site	7.14	65	5	SNP	1.000	G	G	43655404	C	G	43655404	5	3	130	1	0	0	0	0	0	0	1	0	9866	521	18	5	501	5	MRPS18A	6	43655404	Splice_Site	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	11103452	43655404	127459663	84	33365											
CD109	135228	genome.wustl.edu	37	chr6	74519854	74519854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcccaattatgaggtggcTaagcaggcaaagaaatagct	16	8	10	7	0	0	2	0	1	0	1	1	2	1	2	1	3	2	4	1	3	7	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr6:74519854T>C	ENST00000287097.5	+	27	3615	c.3503T>C	c.(3502-3504)cTa>cCa	p.L1168P	CD109_ENST00000437994.2_Missense_Mutation_p.L1168P|CD109_ENST00000422508.2_Missense_Mutation_p.L1091P			Q6YHK3	CD109_HUMAN	CD109 molecule	1168					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)	p.L1168P(1)		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						ATGAGGTGGCTAAGCAGGCAA	0.393																																																	1	Substitution - Missense(1)	endometrium(1)											63	61	62					6																	74519854		2203	4299	6502	SO:0001583	missense	0			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.3503T>C	6.37:g.74519854T>C	ENSP00000287097:p.Leu1168Pro		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.L1168P	ENST00000287097.5	37	c.3503	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	T	20.2	3.948824	0.73787	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.68479	-0.33;-0.33;-0.33	5.3	5.3	0.74995	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.64402	D	0.000001	D	0.85539	0.5720	H	0.96518	3.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.996	D	0.90224	0.4274	10	0.87932	D	0	.	15.4015	0.74843	0.0:0.0:0.0:1.0	.	1091;1168;1168	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	P	1168;1091;1168	ENSP00000388062:L1168P;ENSP00000404475:L1091P;ENSP00000287097:L1168P	ENSP00000287097:L1168P	L	+	2	0	CD109	74576575	1.000000	0.71417	0.906000	0.35671	0.850000	0.48378	7.257000	0.78362	2.225000	0.72522	0.533000	0.62120	CTA	CD109	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000156535		0.393	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3		0	33	0	T	NM_133493		74519854	1			no_errors	ENST00000287097	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.992	C	C	74519854	T	C	74519854	3	2	130	1	0	0	0	0	1	0	0	0	2970	1522	53	4	3609	4	CD109	6	74519854	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	30864450	74519854	96595213	85	33366											
COL12A1	1303	genome.wustl.edu	37	chr6	75892984	75892984	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttttatcgcaggatctCtgaaagcatctgatgatttc	10	15	8	8	1	3	3	1	3	2	0	6	4	3	4	0	1	1	3	0	1	2	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr6:75892984C>A	ENST00000322507.8	-	10	1982	c.1673G>T	c.(1672-1674)aGa>aTa	p.R558I	COL12A1_ENST00000483888.2_Missense_Mutation_p.R558I|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.R558I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	558	VWFA 2. {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						CGCAGGATCTCTGAAAGCATC	0.428																																																	0													169	160	163					6																	75892984		1919	4136	6055	SO:0001583	missense	0			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.1673G>T	6.37:g.75892984C>A	ENSP00000325146:p.Arg558Ile		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.R558I	ENST00000322507.8	37	c.1673	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074075	0.55646	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	D;D;D	0.83419	-1.72;-1.72;-1.72	5.56	4.68	0.58851	von Willebrand factor, type A (3);	0.074841	0.56097	D	0.000024	T	0.64627	0.2615	N	0.25201	0.72	0.45502	D	0.998463	P;P	0.49696	0.927;0.927	P;P	0.45998	0.5;0.5	T	0.72151	-0.4377	10	0.72032	D	0.01	.	5.573	0.17208	0.0:0.7346:0.0:0.2654	.	558;558	D6RGG3;Q99715	.;COCA1_HUMAN	I	558	ENSP00000325146:R558I;ENSP00000412864:R558I;ENSP00000421216:R558I	ENSP00000325146:R558I	R	-	2	0	COL12A1	75949704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.544000	0.45761	2.777000	0.95525	0.655000	0.94253	AGA	COL12A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000111799		0.428	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3		0	84	0	C	NM_004370		75892984	-1			no_errors	ENST00000322507	ensembl	human	known	74_37	missense	6.38	43	3	SNP	1.000	A	A	75892984	C	A	75892984	3	1	130	1	0	0	0	0	1	0	0	0	3676	913	32	3	7746	3	COL12A1	6	75892984	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	1373130	75892984	95222083	86	33367											
SCML4	256380	genome.wustl.edu	37	chr6	108029193	108029193	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtggccgcctggcatcctgCgcatcctgagaagggcttga	6	8	14	13	3	0	2	0	2	0	1	2	3	2	2	4	3	1	3	4	3	1	1	rs530348685		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr6:108029193C>T	ENST00000369020.3	-	7	1241	c.996G>A	c.(994-996)gcG>gcA	p.A332A	SCML4_ENST00000369025.2_Silent_p.A90A|SCML4_ENST00000369022.2_Silent_p.A274A	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	332	SAM.				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)		TGGCATCCTGCGCATCCTGAG	0.667													C|||	1	0.000199681	0	0	5008	,	,		18666	0		0	False		,,,				2504	0.001																0													39	48	46					6																	108029193		692	1591	2283	SO:0001819	synonymous_variant	0				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.996G>A	6.37:g.108029193C>T			B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Silent	SNP	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM	p.A90	ENST00000369020.3	37	c.270	CCDS5060.2	6																																																																																			SCML4	-	superfamily_SAM/pointed	ENSG00000146285		0.667	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SCML4	HGNC	protein_coding	OTTHUMT00000041700.3		0	44	0	C	XM_171128		108029193	-1			no_errors	ENST00000369025	ensembl	human	putative	74_37	silent	6.25	30	2	SNP	0.001	T	T	108029193	C	T	108029193	2	4	130	1	0	0	0	0	0	0	0	1	13956	755	27	1		1	SCML4	6	108029193	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	32136209	108029193	63085874	87	33368											
ACTB	60	genome.wustl.edu	37	chr7	5568131	5568131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgaagctgtagccgcgctCggtgaggatcttcatgaggt	7	10	16	8	3	2	3	1	3	1	0	3	4	2	4	1	4	2	3	1	4	2	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:5568131C>T	ENST00000331789.5	-	4	774	c.583G>A	c.(583-585)Gag>Aag	p.E195K	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	195					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TAGCCGCGCTCGGTGAGGATC	0.612																																																	0													56	56	56					7																	5568131		2203	4299	6502	SO:0001583	missense	0			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.583G>A	7.37:g.5568131C>T	ENSP00000349960:p.Glu195Lys		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.E195K	ENST00000331789.5	37	c.583	CCDS5341.1	7	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958525	0.34565	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.94376	-3.41	5.55	3.73	0.42828	.	0.000000	0.56097	U	0.000028	D	0.94328	0.8177	M	0.70275	2.135	0.44309	D	0.997183	B	0.27625	0.183	P	0.44897	0.463	D	0.93816	0.7114	10	0.87932	D	0	.	10.6607	0.45700	0.0:0.8386:0.0:0.1614	.	195	P60709	ACTB_HUMAN	K	195;171;167;114	ENSP00000349960:E195K	ENSP00000440549:E114K	E	-	1	0	ACTB	5534657	1.000000	0.71417	0.853000	0.33588	0.654000	0.38779	4.708000	0.61859	1.358000	0.45922	-0.141000	0.14075	GAG	ACTB	-	pfam_Actin-related,smart_Actin-related	ENSG00000075624		0.612	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	-	0	102	0	C	NM_001101		5568131	-1	tier1	-	no_errors	ENST00000331789	ensembl	human	known	74_37	missense	28.24	61	24	SNP	0.993	T	T	5568131	C	T	5568131	3	4	130	1	0	0	0	0	1	0	0	0	193	893	31	1	556	1	ACTB	7	5568131	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09		5568131	153570532	88	33369											
SP4	6671	genome.wustl.edu	37	chr7	21470395	21470395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaccttcagacagtgagcGttgccaacctgggtgctgca	9	9	11	12	1	1	2	1	1	0	1	1	2	1	2	3	1	6	3	3	1	2	3	rs145286007		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:21470395G>T	ENST00000222584.3	+	3	1830	c.1612G>T	c.(1612-1614)Gtt>Ttt	p.V538F		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	538					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						GACAGTGAGCGTTGCCAACCT	0.478													G|||	1	0.000199681	0	0	5008	,	,		18952	0		0.001	False		,,,				2504	0																0													131	129	130					7																	21470395		2203	4300	6503	SO:0001583	missense	0				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.1612G>T	7.37:g.21470395G>T	ENSP00000222584:p.Val538Phe		O60402|Q32M52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V538F	ENST00000222584.3	37	c.1612	CCDS5373.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.64	3.178281	0.57692	.	.	ENSG00000105866	ENST00000222584	T	0.11821	2.74	5.25	5.25	0.73442	.	0.056773	0.64402	D	0.000001	T	0.28896	0.0717	L	0.54323	1.7	0.54753	D	0.999982	D	0.64830	0.994	P	0.55577	0.779	T	0.00173	-1.1957	10	0.49607	T	0.09	.	19.3982	0.94617	0.0:0.0:1.0:0.0	.	538	Q02446	SP4_HUMAN	F	538	ENSP00000222584:V538F	ENSP00000222584:V538F	V	+	1	0	SP4	21436920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.849000	0.69465	2.894000	0.99253	0.655000	0.94253	GTT	SP4	-	NULL	ENSG00000105866		0.478	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	HGNC	protein_coding	OTTHUMT00000211617.2		0	59	0	G	NM_003112		21470395	1			no_errors	ENST00000222584	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	21470395	G	T	21470395	3	4	130	1	0	0	0	0	1	0	0	0	15011	1145	40	2	1622	2	SP4	7	21470395	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	15902264	21470395	137668268	89	33370											
CDCA7L	55536	genome.wustl.edu	37	chr7	21945184	21945184	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattttctaagtcctcttcGgtgatatcctccactggccg	7	14	7	13	2	2	1	0	1	2	0	6	1	5	1	4	2	0	0	4	2	2	5	rs113584859		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:21945184G>A	ENST00000406877.3	-	7	1266	c.987C>T	c.(985-987)acC>acT	p.T329T	CDCA7L_ENST00000373934.4_Silent_p.T283T|CDCA7L_ENST00000356195.5_Silent_p.T295T|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	329					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						AGTCCTCTTCGGTGATATCCT	0.413													G|||	1	0.000199681	0	0	5008	,	,		17688	0		0.001	False		,,,				2504	0																0													94	90	91					7																	21945184		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.987C>T	7.37:g.21945184G>A			A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Silent	SNP	pfam_Znf-4CXXC_R1	p.T329	ENST00000406877.3	37	c.987	CCDS5374.1	7																																																																																			CDCA7L	-	NULL	ENSG00000164649		0.413	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4		0	42	0	G	NM_018719		21945184	-1			no_errors	ENST00000406877	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.646	A	A	21945184	G	A	21945184	2	1	130	1	0	0	0	0	0	0	0	1	3098	1103	39	1		1	CDCA7L	7	21945184	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	474789	21945184	137193479	90	33371											
GARS	2617	genome.wustl.edu	37	chr7	30642730	30642730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttttcgtgctgaccatcTattaaaaggtgaggttcttc	9	16	9	7	1	2	2	0	2	2	0	4	2	2	2	1	2	1	3	1	2	3	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:30642730T>C	ENST00000389266.3	+	5	891	c.650T>C	c.(649-651)cTa>cCa	p.L217P		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	217					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)	GCTGACCATCTATTAAAAGGT	0.353																																																	0													126	115	119					7																	30642730		1855	4096	5951	SO:0001583	missense	0			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.650T>C	7.37:g.30642730T>C	ENSP00000373918:p.Leu217Pro		B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly	p.L217P	ENST00000389266.3	37	c.650	CCDS43564.1	7	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634087	0.87660	.	.	ENSG00000106105	ENST00000389266	T	0.70869	-0.52	5.72	5.72	0.89469	Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.88179	0.6367	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91169	0.4967	10	0.87932	D	0	-9.7127	14.2653	0.66113	0.0:0.0:0.0:1.0	.	217	P41250	SYG_HUMAN	P	217	ENSP00000373918:L217P	ENSP00000373918:L217P	L	+	2	0	GARS	30609255	1.000000	0.71417	0.933000	0.37362	0.938000	0.57974	7.953000	0.87836	2.320000	0.78422	0.528000	0.53228	CTA	GARS	-	pfam_aa-tRNA-synt_IIb_cons-dom,tigrfam_tRNA-synt_gly	ENSG00000106105		0.353	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GARS	HGNC	protein_coding	OTTHUMT00000327735.1		0	107	0	T	NM_002047		30642730	1			no_errors	ENST00000389266	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.998	C	C	30642730	T	C	30642730	3	2	130	1	0	0	0	0	1	0	0	0	6267	1522	53	4	668	4	GARS	7	30642730	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	8697546	30642730	128495933	91	33372											
FKBP9	11328	genome.wustl.edu	37	chr7	33044838	33044838	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggcaaagggaaactcgctCctggctttgatgctgagctg	8	10	13	10	1	0	2	0	2	0	0	2	3	1	3	1	3	3	5	1	3	2	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:33044838C>G	ENST00000242209.4	+	10	1757	c.1588C>G	c.(1588-1590)Cct>Gct	p.P530A	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.P583A|FKBP9_ENST00000538443.1_Missense_Mutation_p.P392A|FKBP9_ENST00000490776.2_Missense_Mutation_p.P298A	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	530					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)			GAAACTCGCTCCTGGCTTTGA	0.502																																																	0													65	57	60					7																	33044838		2202	4281	6483	SO:0001583	missense	0			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.1588C>G	7.37:g.33044838C>G	ENSP00000242209:p.Pro530Ala		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.P583A	ENST00000242209.4	37	c.1747	CCDS5439.1	7	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764180	0.69878	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.53640	0.61;0.61;0.61;2.33	5.07	5.07	0.68467	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.997;0.999	T	0.74210	-0.3739	10	0.72032	D	0.01	-11.8545	18.4683	0.90763	0.0:1.0:0.0:0.0	.	298;583;530	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	A	530;583;392;298	ENSP00000242209:P530A;ENSP00000439250:P583A;ENSP00000437504:P392A;ENSP00000441317:P298A	ENSP00000242209:P530A	P	+	1	0	FKBP9	33011363	1.000000	0.71417	0.981000	0.43875	0.725000	0.41563	7.727000	0.84838	2.371000	0.80710	0.555000	0.69702	CCT	FKBP9	-	NULL	ENSG00000122642		0.502	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP9	HGNC	protein_coding	OTTHUMT00000215137.1		0	135	0	C	NM_007270		33044838	1			no_errors	ENST00000538336	ensembl	human	known	74_37	missense	7.22	90	7	SNP	0.994	G	G	33044838	C	G	33044838	3	3	130	1	0	0	0	0	1	0	0	0	5937	855	30	5	1626	5	FKBP9	7	33044838	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	2402108	33044838	126093825	92	33373											
ZNF479	90827	genome.wustl.edu	37	chr7	57188204	57188204	+	Frame_Shift_Del	DEL	A	A	-																															gtgagggttgaggatacgctAaaggctttgccacattcttc																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:57188204delA	ENST00000331162.4	-	5	1188	c.918delT	c.(916-918)tttfs	p.F306fs		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			AGGATACGCTAAAGGCTTTGC	0.478																																																	0													21	21	21					7																	57188204		1941	4124	6065	SO:0001589	frameshift_variant	0			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.918delT	7.37:g.57188204delA	ENSP00000333776:p.Phe306fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F306fs	ENST00000331162.4	37	c.918	CCDS43590.1	7																																																																																			ZNF479	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185177		0.478	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1		0	116	0	A	XM_291202		57188204	-1	tier1		no_errors	ENST00000331162	ensembl	human	known	74_37	frame_shift_del	6.67	84	6	DEL	0.022	-	-	57188204	A	-	57188204	7	5	130	1	0	1	0	1	0	0	0	0	17981	359	13	0	660	0	ZNF479	7	57188204	Frame_Shift_Del	DEL	A	TCGA-LN-A8I0-01A-11D-A36J-09	24143366	57188204	101950459	93	33374											
POM121	9883	genome.wustl.edu	37	chr7	72413094	72413094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtaccacgaccagcacCgccactgccgcctcacagcc	9	4	9	19	3	1	1	1	1	0	0	1	2	1	1	7	0	4	2	7	0	1	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:72413094C>T	ENST00000434423.2	+	11	2562	c.2562C>T	c.(2560-2562)acC>acT	p.T854T	POM121_ENST00000446813.1_Silent_p.T589T|POM121_ENST00000257622.4_Silent_p.T589T|POM121_ENST00000395270.1_Silent_p.T589T|POM121_ENST00000358357.3_Silent_p.T589T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	854	Pore side. {ECO:0000255}.|Thr-rich.				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)				CGACCAGCACCGCCACTGCCG	0.602																																																	0													1	1	1					7																	72413094		376	1026	1402	SO:0001819	synonymous_variant	0			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.2562C>T	7.37:g.72413094C>T			A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	NULL	p.T854	ENST00000434423.2	37	c.2562		7																																																																																			POM121	-	NULL	ENSG00000196313		0.602	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	-	0	25	0	C			72413094	1	tier1	-	no_errors	ENST00000434423	ensembl	human	known	74_37	silent	24.00	19	6	SNP	0.028	T	T	72413094	C	T	72413094	2	4	130	1	0	0	0	0	0	0	0	1	12278	639	23	1		1	POM121	7	72413094	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	15224890	72413094	86725569	94	33375											
HIP1	3092	genome.wustl.edu	37	chr7	75182803	75182803	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcatggctgtgctgtcGgcattctcaaggcttccctc	4	14	9	14	1	2	0	2	0	1	0	7	0	4	0	2	3	1	4	2	3	1	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:75182803G>T	ENST00000336926.6	-	22	2270	c.2244C>A	c.(2242-2244)gcC>gcA	p.A748A	HIP1_ENST00000434438.2_Silent_p.A748A	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	748					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						CTGTGCTGTCGGCATTCTCAA	0.552			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													156	127	137					7																	75182803		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2244C>A	7.37:g.75182803G>T			B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom	p.A748	ENST00000336926.6	37	c.2244	CCDS34669.1	7																																																																																			HIP1	-	NULL	ENSG00000127946		0.552	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	-	0	64	0	G	NM_005338		75182803	-1	tier1	-	no_errors	ENST00000336926	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.544	T	T	75182803	G	T	75182803	2	4	130	1	0	0	0	0	0	0	0	1	7141	1103	39	2		2	HIP1	7	75182803	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	2769709	75182803	83955860	95	33376											
DTX2	113878	genome.wustl.edu	37	chr7	76110027	76110027	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagcatccccttgggccaGgcagacccctcgctggcccc	6	5	10	20	1	0	1	0	0	0	1	2	1	1	1	7	3	1	3	7	3	0	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:76110027G>A	ENST00000324432.5	+	4	711	c.201G>A	c.(199-201)caG>caA	p.Q67Q	DTX2_ENST00000446820.2_Silent_p.Q67Q|DTX2_ENST00000446600.1_Intron|DTX2_ENST00000307569.8_Silent_p.Q67Q|DTX2_ENST00000413936.2_Silent_p.Q67Q|AC007078.4_ENST00000479299.2_RNA|DTX2_ENST00000430490.2_Silent_p.Q67Q|DTX2_ENST00000472426.1_3'UTR	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	67	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				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						CCTTGGGCCAGGCAGACCCCT	0.612																																																	0													23	24	24					7																	76110027		2202	4300	6502	SO:0001819	synonymous_variant	0				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.201G>A	7.37:g.76110027G>A			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.Q67	ENST00000324432.5	37	c.201	CCDS5587.1	7																																																																																			DTX2	-	pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom	ENSG00000091073		0.612	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2	-	0	72	0	G			76110027	1	tier1	-	no_errors	ENST00000324432	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.507	A	A	76110027	G	A	76110027	2	1	130	1	0	0	0	0	0	0	0	1	4808	991	35	3		3	DTX2	7	76110027	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	927224	76110027	83028636	96	33377											
SEMA3D	223117	genome.wustl.edu	37	chr7	84647607	84647607	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atgttcaagatgattgatgaGtgctgaaaatagaagttaaa	17	12	10	2	0	1	6	1	4	0	2	1	6	1	6	0	0	1	3	0	0	7	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:84647607G>T	ENST00000284136.6	-	13	1549	c.1506C>A	c.(1504-1506)caC>caA	p.H502Q	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	502	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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						TGATTGATGAGTGCTGAAAAT	0.294																																					Ovarian(63;442 1191 17318 29975 31528)												0													45	46	46					7																	84647607		2202	4289	6491	SO:0001583	missense	0			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.1506C>A	7.37:g.84647607G>T	ENSP00000284136:p.His502Gln		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.H502Q	ENST00000284136.6	37	c.1506	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	G	0.805	-0.754119	0.03041	.	.	ENSG00000153993	ENST00000284136	T	0.10382	2.88	5.69	3.6	0.41247	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.443843	0.27600	N	0.018648	T	0.04363	0.0120	N	0.05383	-0.06	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.37267	-0.9713	10	0.14252	T	0.57	.	5.5594	0.17135	0.2646:0.0:0.5833:0.152	.	502	O95025	SEM3D_HUMAN	Q	502	ENSP00000284136:H502Q	ENSP00000284136:H502Q	H	-	3	2	SEMA3D	84485543	0.990000	0.36364	0.985000	0.45067	0.120000	0.20174	0.152000	0.16302	1.361000	0.45981	0.491000	0.48974	CAC	SEMA3D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000153993		0.294	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	-	0	64	0	G	NM_152754		84647607	-1	tier1	-	no_errors	ENST00000284136	ensembl	human	known	74_37	missense	21.43	22	6	SNP	0.998	T	T	84647607	G	T	84647607	3	4	130	1	0	0	0	0	1	0	0	0	14072	1020	36	3	847	3	SEMA3D	7	84647607	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	8537580	84647607	74491056	97	33378											
CASD1	64921	genome.wustl.edu	37	chr7	94167097	94167097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttctatatgtgtgaccGtgcaaatctgttcatgaagg	11	15	9	6	1	3	2	1	2	2	0	3	2	3	2	1	1	1	2	1	1	5	5	rs371554475		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:94167097G>A	ENST00000297273.4	+	9	1444	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	386			R -> S (in dbSNP:rs17855797). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)		p.R386H(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATGTGTGACCGTGCAAATCTG	0.289													G|||	1	0.000199681	8e-04	0	5008	,	,		18079	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)						G	HIS/ARG	0,4404		0,0,2202	97	108	104		1157	4.6	1	7		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	CASD1	NM_022900.4	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	386/798	94167097	1,13003	2202	4300	6502	SO:0001583	missense	0			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1157G>A	7.37:g.94167097G>A	ENSP00000297273:p.Arg386His		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.R386H	ENST00000297273.4	37	c.1157	CCDS5636.1	7	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586622	0.86851	0.0	1.16E-4	ENSG00000127995	ENST00000297273	T	0.64438	-0.1	5.51	4.63	0.57726	.	0.049300	0.85682	N	0.000000	T	0.65933	0.2739	M	0.79693	2.465	0.58432	D	0.999998	B;B	0.17038	0.02;0.02	B;B	0.19946	0.027;0.027	T	0.67577	-0.5635	10	0.87932	D	0	.	14.4995	0.67711	0.0709:0.0:0.9291:0.0	.	386;386	Q8WZ77;Q96PB1	.;CASD1_HUMAN	H	386	ENSP00000297273:R386H	ENSP00000297273:R386H	R	+	2	0	CASD1	94005033	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.606000	0.98325	1.475000	0.48197	0.585000	0.79938	CGT	CASD1	-	pfam_Cas1_AcylTrans_dom	ENSG00000127995		0.289	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1		0	50	0	G	NM_022900		94167097	1			no_errors	ENST00000297273	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	94167097	G	A	94167097	3	1	130	1	0	0	0	0	1	0	0	0	2671	1145	40	1	1191	1	CASD1	7	94167097	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	9519490	94167097	64971566	98	33379											
DLD	1738	genome.wustl.edu	37	chr7	107542770	107542770	+	Splice_Site	SNP	A	A	T	1	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	aatgttttctttggttgtagAcagtctgcattgagaaaaat	12	16	9	4	0	2	2	0	1	2	2	2	3	2	2	0	1	1	4	0	1	4	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:107542770A>T	ENST00000205402.5	+	4	480	c.199A>T	c.(199-201)Aca>Tca	p.T67S	DLD_ENST00000537148.1_Intron|DLD_ENST00000437604.2_Splice_Site_p.T67S|DLD_ENST00000440410.1_Intron|DLD_ENST00000494441.1_3'UTR	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	67					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TTGGTTGTAGACAGTCTGCAT	0.338																																																	0													271	238	249					7																	107542770		2203	4300	6503	SO:0001630	splice_region_variant	0			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.199-1A>T	7.37:g.107542770A>T			B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH	p.T67S	ENST00000205402.5	37	c.199	CCDS5749.1	7	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410966	0.62399	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000437604;ENST00000539590	T;T;T	0.67865	-0.29;-0.29;0.78	6.04	4.88	0.63580	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.92026	3.265	0.80722	D	1	B;B	0.21905	0.062;0.007	B;B	0.36922	0.236;0.079	T	0.73949	-0.3821	9	.	.	.	-18.7893	11.619	0.51106	0.9308:0.0:0.0692:0.0	.	67;67	B4DT69;P09622	.;DLDH_HUMAN	S	67;67;67;17	ENSP00000205402:T67S;ENSP00000390667:T67S;ENSP00000387542:T67S	.	T	+	1	0	DLD	107330006	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.266000	0.58871	1.102000	0.41551	0.459000	0.35465	ACA	DLD	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,pfam_GIDA-rel,prints_Hg_reductase,tigrfam_Lipoamide_DH	ENSG00000091140		0.338	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLD	HGNC	protein_coding	OTTHUMT00000337194.3	-	0	82	0	A	NM_000108	Missense_Mutation	107542770	1	tier1	-	no_errors	ENST00000205402	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	107542770	A	T	107542770	5	4	130	1	0	0	0	0	0	0	1	0	4565	289	10	5	213	5	DLD	7	107542770	Splice_Site	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	13375673	107542770	51595893	99	33380											
TMEM168	64418	genome.wustl.edu	37	chr7	112415367	112415367	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgctcaagaaaattccatTtgttggctaaaagaaatcca	16	11	6	8	0	1	2	1	0	0	2	3	2	3	2	2	1	1	3	2	1	6	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:112415367T>A	ENST00000312814.6	-	3	1695	c.1135A>T	c.(1135-1137)Aat>Tat	p.N379Y	TMEM168_ENST00000454074.1_Missense_Mutation_p.N379Y|TMEM168_ENST00000480969.1_5'UTR	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	379						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AAAATTCCATTTGTTGGCTAA	0.348																																																	0													65	59	61					7																	112415367		2203	4300	6503	SO:0001583	missense	0				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1135A>T	7.37:g.112415367T>A	ENSP00000323068:p.Asn379Tyr		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl_sf	p.N379Y	ENST00000312814.6	37	c.1135	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387314	0.82902	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000418785;ENST00000441474	.	.	.	5.31	5.31	0.75309	.	0.040186	0.85682	D	0.000000	T	0.73953	0.3653	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	P	0.62184	0.899	T	0.77230	-0.2664	9	0.87932	D	0	-17.717	15.556	0.76192	0.0:0.0:0.0:1.0	.	379	Q9H0V1	TM168_HUMAN	Y	379;379;19;31	.	ENSP00000323068:N379Y	N	-	1	0	TMEM168	112202603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.473000	0.81007	2.146000	0.66826	0.533000	0.62120	AAT	TMEM168	-	NULL	ENSG00000146802		0.348	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4		0	40	0	T	NM_022484		112415367	-1			no_errors	ENST00000312814	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	112415367	T	A	112415367	3	1	130	1	0	0	0	0	1	0	0	0	16130	1841	64	5	970	5	TMEM168	7	112415367	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	4872597	112415367	46723296	100	33381											
ING3	54556	genome.wustl.edu	37	chr7	120595654	120595654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagatgagaaggttcaGttggcaaaccagatatatga	15	9	12	5	0	1	4	1	2	0	3	1	6	1	4	1	2	2	4	1	2	4	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:120595654G>T	ENST00000315870.5	+	4	391	c.243G>T	c.(241-243)caG>caT	p.Q81H	ING3_ENST00000445699.1_Missense_Mutation_p.Q81H|ING3_ENST00000431467.1_Missense_Mutation_p.Q66H|ING3_ENST00000339121.5_Missense_Mutation_p.Q81H	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	81					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					AGAAGGTTCAGTTGGCAAACC	0.284																																																	0													86	90	88					7																	120595654		2203	4300	6503	SO:0001583	missense	0			AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"Zinc fingers, PHD-type"	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.243G>T	7.37:g.120595654G>T	ENSP00000320566:p.Gln81His		A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q81H	ENST00000315870.5	37	c.243	CCDS5778.1	7	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826788	0.50739	.	.	ENSG00000071243	ENST00000315870;ENST00000339121;ENST00000445699;ENST00000431467	D;D	0.95885	-3.76;-3.84	5.54	2.07	0.26955	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95443	0.8520	L	0.44542	1.39	0.54753	D	0.999988	B;D;D;B;B	0.67145	0.007;0.996;0.991;0.006;0.005	B;D;D;B;B	0.81914	0.027;0.995;0.986;0.016;0.011	D	0.92629	0.6114	10	0.33940	T	0.23	-13.6499	10.0503	0.42212	0.2787:0.0:0.7213:0.0	.	81;81;81;81;81	B7ZKQ7;Q5GRH6;Q9NXR8;Q9NXR8-2;C9JUT0	.;.;ING3_HUMAN;.;.	H	81;81;81;66	ENSP00000320566:Q81H;ENSP00000388506:Q66H	ENSP00000320566:Q81H	Q	+	3	2	ING3	120382890	0.999000	0.42202	0.998000	0.56505	0.992000	0.81027	1.111000	0.31159	0.293000	0.22520	0.650000	0.86243	CAG	ING3	-	NULL	ENSG00000071243		0.284	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING3	HGNC	protein_coding	OTTHUMT00000280453.2		0	47	0	G	NM_019071		120595654	1			no_errors	ENST00000315870	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	120595654	G	T	120595654	3	4	130	1	0	0	0	0	1	0	0	0	7764	1020	36	3	257	3	ING3	7	120595654	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	8180287	120595654	38543009	101	33382											
DGKI	9162	genome.wustl.edu	37	chr7	137255958	137255958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atccaatgacttcaatataaCcatcatcatgacgctgaggt	14	11	6	10	1	3	3	3	3	0	0	4	3	4	3	2	1	1	1	2	1	4	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:137255958C>T	ENST00000288490.5	-	19	1910	c.1910G>A	c.(1909-1911)gGt>gAt	p.G637D	DGKI_ENST00000446122.1_Missense_Mutation_p.G637D|DGKI_ENST00000424189.2_Missense_Mutation_p.G637D|DGKI_ENST00000453654.2_Missense_Mutation_p.G337D	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	637					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTCAATATAACCATCATCATG	0.378																																																	0													94	92	93					7																	137255958		2203	4300	6503	SO:0001583	missense	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1910G>A	7.37:g.137255958C>T	ENSP00000288490:p.Gly637Asp		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G637D	ENST00000288490.5	37	c.1910	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.237043	0.95240	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.60672	0.17;0.17;0.17	6.17	6.17	0.99709	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86317	0.1690	10	0.87932	D	0	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	337;637	E9PFX6;O75912	.;DGKI_HUMAN	D	337;585;637;637;637	ENSP00000392161:G337D;ENSP00000288490:G637D;ENSP00000399131:G637D	ENSP00000288490:G637D	G	-	2	0	DGKI	136906498	1.000000	0.71417	0.985000	0.45067	0.969000	0.65631	7.292000	0.78731	2.941000	0.99782	0.655000	0.94253	GGT	DGKI	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000157680		0.378	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0	69	0	C	NM_004717		137255958	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	137255958	C	T	137255958	3	4	130	1	0	0	0	0	1	0	0	0	4485	507	18	3	1351	3	DGKI	7	137255958	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	16660304	137255958	21882705	102	33383											
INSIG1	3638	genome.wustl.edu	37	chr7	155094456	155094456	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcttttctcgctccaGgtatacatccccagatttcc	7	15	5	14	1	2	1	0	0	2	1	6	1	5	1	4	1	1	3	4	1	2	6	rs112769976		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr7:155094456G>A	ENST00000340368.4	+	5	915		c.e5-1		INSIG1_ENST00000344756.4_Splice_Site|INSIG1_ENST00000342407.5_Splice_Site	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1						cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTCGCTCCAGGTATACATCC	0.448																																																	0													164	155	158					7																	155094456		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"INSIG-1 membrane protein"	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.705-1G>A	7.37:g.155094456G>A			A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Splice_Site	SNP	-	e4-1	ENST00000340368.4	37	c.705-1	CCDS5938.1	7	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533081	0.45073	.	.	ENSG00000186480	ENST00000340368;ENST00000344756;ENST00000342407;ENST00000476756	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9022	0.88907	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INSIG1	154725391	1.000000	0.71417	0.915000	0.36163	0.290000	0.27261	7.624000	0.83124	2.297000	0.77311	0.650000	0.86243	.	INSIG1	-	-	ENSG00000186480		0.448	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG1	HGNC	protein_coding	OTTHUMT00000322244.3	-	0	123	0	G	NM_198336	Intron	155094456	1	tier1	rs112769976	no_errors	ENST00000340368	ensembl	human	known	74_37	splice_site	7.46	62	5	SNP	1.000	A	A	155094456	G	A	155094456	5	1	130	1	0	0	0	0	0	0	1	0	7792	1014	35	3	718	3	INSIG1	7	155094456	Splice_Site	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	17838498	155094456	4044207	103	33384											
EBF2	64641	genome.wustl.edu	37	chr8	25744358	25744358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccacgcctgggatgtgccGgggaggagtctgtactctga	7	9	15	10	2	2	1	0	1	2	0	2	4	2	4	3	4	3	1	3	4	2	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr8:25744358G>A	ENST00000520164.1	-	10	1459	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	EBF2_ENST00000408929.3_Missense_Mutation_p.R160W|EBF2_ENST00000535548.1_Missense_Mutation_p.R39W	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	308	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)		GGGATGTGCCGGGGAGGAGTC	0.458																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0													82	81	82					8																	25744358		1918	4142	6060	SO:0001583	missense	0			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.922C>T	8.37:g.25744358G>A	ENSP00000430241:p.Arg308Trp		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.R308W	ENST00000520164.1	37	c.922	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479564	0.84747	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.46063	0.88;0.88;0.88	5.58	5.58	0.84498	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66264	-0.5967	10	0.87932	D	0	0.1833	14.4259	0.67215	0.0:0.0:0.8527:0.1473	.	308	Q9HAK2	COE2_HUMAN	W	308;160;39	ENSP00000430241:R308W;ENSP00000386178:R160W;ENSP00000437909:R39W	ENSP00000386178:R160W	R	-	1	2	EBF2	25800275	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.454000	0.66651	2.641000	0.89580	0.563000	0.77884	CGG	EBF2	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000221818		0.458	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	-	0	136	0	G	NM_022659		25744358	-1	tier1	-	no_errors	ENST00000520164	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	25744358	G	A	25744358	3	1	130	1	0	0	0	0	1	0	0	0	4895	1115	39	1	833	1	EBF2	8	25744358	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09		25744358	120619664	104	33385											
ADAM18	8749	genome.wustl.edu	37	chr8	39466616	39466616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataatgaaactggatctttgCattctgtgtctccatatttt	10	18	6	7	0	3	1	0	1	3	0	4	2	3	2	1	1	2	1	1	1	3	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr8:39466616C>A	ENST00000265707.5	+	4	289	c.244C>A	c.(244-246)Cat>Aat	p.H82N	ADAM18_ENST00000379866.1_Missense_Mutation_p.H82N|ADAM18_ENST00000520772.1_Missense_Mutation_p.H82N|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	82					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGGATCTTTGCATTCTGTGTC	0.259																																																	0													56	59	58					8																	39466616		2198	4287	6485	SO:0001583	missense	0			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.244C>A	8.37:g.39466616C>A	ENSP00000265707:p.His82Asn		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.H82N	ENST00000265707.5	37	c.244	CCDS6113.1	8	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.457856	0.00173	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000520772;ENST00000522198	T;T;T	0.05649	3.41;3.41;3.41	5.09	1.04	0.20106	Peptidase M12B, propeptide (1);	0.306566	0.23883	N	0.043635	T	0.04815	0.0130	L	0.35644	1.08	0.09310	N	0.999997	B;B;B	0.24882	0.004;0.005;0.113	B;B;B	0.30401	0.022;0.038;0.115	T	0.37502	-0.9703	10	0.27082	T	0.32	.	3.2216	0.06717	0.1855:0.5139:0.0:0.3006	.	82;82;82	Q9Y3Q7-2;Q9Y3Q7;Q6IRW9	.;ADA18_HUMAN;.	N	82;82;82;38	ENSP00000265707:H82N;ENSP00000369195:H82N;ENSP00000429908:H82N	ENSP00000265707:H82N	H	+	1	0	ADAM18	39585773	0.001000	0.12720	0.036000	0.18154	0.140000	0.21249	0.047000	0.14056	0.401000	0.25424	0.655000	0.94253	CAT	ADAM18	-	pfam_Peptidase_M12B_N	ENSG00000168619		0.259	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	-	0	34	0	C	NM_014237		39466616	1	tier1	-	no_errors	ENST00000265707	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.006	A	A	39466616	C	A	39466616	3	1	130	1	0	0	0	0	1	0	0	0	239	710	25	3	258	3	ADAM18	8	39466616	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	13722258	39466616	106897406	105	33386											
RP1	6101	genome.wustl.edu	37	chr8	55537775	55537775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaccaagcaaagcatCgtttttataggccccctaca	13	9	6	13	1	1	1	1	0	0	1	2	1	1	1	3	1	3	3	3	1	6	5	rs575855591		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr8:55537775C>A	ENST00000220676.1	+	4	1481	c.1333C>A	c.(1333-1335)Cgt>Agt	p.R445S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	445					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)			AGCAAAGCATCGTTTTTATAG	0.438																																					Colon(91;1014 1389 7634 14542 40420)												0													85	87	86					8																	55537775		2203	4300	6503	SO:0001583	missense	0			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.1333C>A	8.37:g.55537775C>A	ENSP00000220676:p.Arg445Ser			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R445S	ENST00000220676.1	37	c.1333	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300363	0.23650	.	.	ENSG00000104237	ENST00000220676	T	0.30981	1.51	5.25	4.36	0.52297	.	1.463730	0.04110	N	0.314533	T	0.31136	0.0787	L	0.34521	1.04	0.09310	N	1	B	0.26081	0.141	B	0.22753	0.041	T	0.40117	-0.9580	10	0.38643	T	0.18	.	15.1321	0.72533	0.1425:0.8575:0.0:0.0	.	445	P56715	RP1_HUMAN	S	445	ENSP00000220676:R445S	ENSP00000220676:R445S	R	+	1	0	RP1	55700328	0.313000	0.24554	0.080000	0.20451	0.893000	0.52053	4.503000	0.60407	1.196000	0.43129	0.650000	0.86243	CGT	RP1	-	NULL	ENSG00000104237		0.438	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2		0	49	0	C	NM_006269		55537775	1			no_errors	ENST00000220676	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.034	A	A	55537775	C	A	55537775	3	1	130	1	0	0	0	0	1	0	0	0	13577	884	31	2	1343	2	RP1	8	55537775	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	16071159	55537775	90826247	106	33387											
C8orf45	157777	genome.wustl.edu	37	chr8	67796185	67796185	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaaggaactggaagattgCctggatattttaattataac	16	12	8	5	0	0	1	0	0	0	1	0	4	0	4	1	3	4	0	1	3	8	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr8:67796185C>T	ENST00000422365.2	+	9	1200	c.1029C>T	c.(1027-1029)tgC>tgT	p.C343C	MCMDC2_ENST00000541540.1_Silent_p.C280C|MCMDC2_ENST00000396592.3_Silent_p.C343C|MCMDC2_ENST00000492775.1_Silent_p.C343C|MCMDC2_ENST00000313616.5_Silent_p.C343C	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	343					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.C338C(1)		endometrium(2)|kidney(2)|lung(5)	9						TGGAAGATTGCCTGGATATTT	0.353																																																	1	Substitution - coding silent(1)	large_intestine(1)											60	59	60					8																	67796185		2203	4300	6503	SO:0001819	synonymous_variant	0			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1029C>T	8.37:g.67796185C>T			B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Silent	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase	p.C343	ENST00000422365.2	37	c.1029	CCDS6197.2	8																																																																																			MCMDC2	-	smart_MCM_DNA-dep_ATPase	ENSG00000178460		0.353	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCMDC2	HGNC	protein_coding	OTTHUMT00000347350.1		0	40	0	C	NM_173518		67796185	1			no_errors	ENST00000422365	ensembl	human	known	74_37	silent	8.33	32	3	SNP	0.593	T	T	67796185	C	T	67796185	2	4	130	1	0	0	0	0	0	0	0	1	2437	747	26	3		3	C8orf45	8	67796185	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	12258410	67796185	78567837	107	33388											
CSPP1	79848	genome.wustl.edu	37	chr8	68092096	68092096	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgaaacatgtttcttttAgcccagagatgacactagtg	12	13	8	8	0	1	3	0	2	1	1	1	4	1	3	1	0	2	1	1	0	3	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr8:68092096A>G	ENST00000262210.5	+	26	3172		c.e26-1		ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Splice_Site|CSPP1_ENST00000521168.1_Splice_Site	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1						positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGTTTCTTTTAGCCCAGAGAT	0.294																																																	0													95	91	92					8																	68092096		1813	4069	5882	SO:0001630	splice_region_variant	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3142-1A>G	8.37:g.68092096A>G			A6ND63|Q70F00|Q8TBC1	Splice_Site	SNP	-	e26-2	ENST00000262210.5	37	c.3142-2	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690315	0.68271	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6886	0.69068	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSPP1	68254650	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.000000	0.70678	2.110000	0.64415	0.402000	0.26972	.	CSPP1	-	-	ENSG00000104218		0.294	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	-	0	42	0	A	NM_024790	Intron	68092096	1	tier1	-	no_errors	ENST00000262210	ensembl	human	known	74_37	splice_site	10.81	33	4	SNP	1.000	G	G	68092096	A	G	68092096	5	3	130	1	0	0	0	0	0	0	1	0	3971	434	15	4	3355	4	CSPP1	8	68092096	Splice_Site	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	295911	68092096	78271926	108	33389											
TPD52	7163	genome.wustl.edu	37	chr8	80992548	80992548	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttacaaaattagtagttAccaaatttctgaagagtagg	16	13	7	5	0	1	2	0	1	1	1	1	2	1	2	1	1	2	3	1	1	9	7			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr8:80992548A>G	ENST00000379097.3	-	1	502		c.e1+1		TPD52_ENST00000520527.1_Splice_Site|TPD52_ENST00000519303.2_Intron|TPD52_ENST00000537855.1_Splice_Site|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000517427.1_Splice_Site|TPD52_ENST00000448733.2_Splice_Site|TPD52_ENST00000379096.5_Intron	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52						anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			ATTAGTAGTTACCAAATTTCT	0.388																																																	0													61	62	62					8																	80992548		2203	4300	6503	SO:0001630	splice_region_variant	0			U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.139+1T>C	8.37:g.80992548A>G			B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Splice_Site	SNP	-	e1+2	ENST00000379097.3	37	c.139+2	CCDS34912.1	8	.	.	.	.	.	.	.	.	.	.	A	18.23	3.577412	0.65878	.	.	ENSG00000076554	ENST00000537855;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000543691;ENST00000379097	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5576	0.76208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPD52	81155103	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.178000	0.71968	2.266000	0.75297	0.472000	0.43445	.	TPD52	-	-	ENSG00000076554		0.388	TPD52-006	KNOWN	basic|CCDS	protein_coding	TPD52	HGNC	protein_coding	OTTHUMT00000379539.2		0	70	0	A	NM_005079	Intron	80992548	-1			no_errors	ENST00000537855	ensembl	human	known	74_37	splice_site	5.77	49	3	SNP	1.000	G	G	80992548	A	G	80992548	5	3	130	1	0	0	0	0	0	0	1	0	16445	405	14	4	634	4	TPD52	8	80992548	Splice_Site	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	12900452	80992548	65371474	109	33390											
ZFAND1	79752	genome.wustl.edu	37	chr8	82629519	82629519	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactccctgcttctgtgttCaaggcttaaataataatagc	12	13	7	9	0	2	1	1	0	1	1	3	1	3	1	1	1	2	3	1	1	6	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr8:82629519C>A	ENST00000220669.5	-	3	121	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.E35*|ZFAND1_ENST00000521895.1_Intron|ZFAND1_ENST00000521287.1_Intron|ZFAND1_ENST00000522520.1_Intron|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.E35*|ZFAND1_ENST00000517588.1_Intron	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	35							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTTCTGTGTTCAAGGCTTAAA	0.289																																																	0													93	95	94					8																	82629519		2203	4296	6499	SO:0001587	stop_gained	0				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.103G>T	8.37:g.82629519C>A	ENSP00000220669:p.Glu35*		E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Nonsense_Mutation	SNP	pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1	p.E35*	ENST00000220669.5	37	c.103	CCDS6232.1	8	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267594	0.80469	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000519523	.	.	.	5.71	5.71	0.89125	.	0.099707	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	16.3558	0.83235	0.0:0.8594:0.1406:0.0	.	.	.	.	X	35	.	ENSP00000220669:E35X	E	-	1	0	ZFAND1	82792074	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.217000	0.65252	2.700000	0.92200	0.557000	0.71058	GAA	ZFAND1	-	pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1	ENSG00000104231		0.289	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND1	HGNC	protein_coding	OTTHUMT00000379739.1		0	42	0	C	NM_024699		82629519	-1			no_errors	ENST00000220669	ensembl	human	known	74_37	nonsense	10.00	18	2	SNP	1.000	A	A	82629519	C	A	82629519	4	1	130	1	0	0	0	0	0	1	0	0	17674	835	29	3	775	3	ZFAND1	8	82629519	Nonsense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	1636971	82629519	63734503	110	33391											
RFX3	5991	genome.wustl.edu	37	chr9	3248085	3248085	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgagcaacacgatgttCtactaagtaaaacatatatt	15	12	6	8	1	1	1	0	1	1	0	1	2	1	1	1	0	5	3	1	0	7	7			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr9:3248085C>A	ENST00000382004.3	-	16	2226	c.1915G>T	c.(1915-1917)Gaa>Taa	p.E639*	RFX3_ENST00000358730.2_Nonsense_Mutation_p.E639*|RFX3_ENST00000302303.1_Nonsense_Mutation_p.E639*	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	639					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ACACGATGTTCTACTAAGTAA	0.458																																																	0													86	85	86					9																	3248085		2203	4299	6502	SO:0001587	stop_gained	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1915G>T	9.37:g.3248085C>A	ENSP00000371434:p.Glu639*		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Nonsense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.E639*	ENST00000382004.3	37	c.1915	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	C	42	9.688179	0.99238	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000449234;ENST00000381986	.	.	.	5.77	5.77	0.91146	.	0.049934	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6198	19.9926	0.97371	0.0:1.0:0.0:0.0	.	.	.	.	X	639;639;639;104;118	.	ENSP00000303847:E639X	E	-	1	0	RFX3	3238085	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.757000	0.85209	2.729000	0.93468	0.467000	0.42956	GAA	RFX3	-	NULL	ENSG00000080298		0.458	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	-	0	27	0	C	NM_002919		3248085	-1	tier1	-	no_errors	ENST00000382004	ensembl	human	known	74_37	nonsense	17.39	19	4	SNP	1.000	A	A	3248085	C	A	3248085	4	1	130	1	0	0	0	0	0	1	0	0	13309	922	32	3	502	3	RFX3	9	3248085	Nonsense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09		3248085	137965346	111	33392											
TLN1	7094	genome.wustl.edu	37	chr9	35707164	35707164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtcccggggattgactgcGagggcccgggctgtctggat	4	8	19	10	3	1	1	0	1	1	0	2	4	2	3	2	6	1	1	2	6	0	1	rs554877602		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr9:35707164G>A	ENST00000314888.9	-	37	5213	c.4860C>T	c.(4858-4860)ctC>ctT	p.L1620L	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Silent_p.L1620L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1620	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)			GATTGACTGCGAGGGCCCGGG	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		17329	0		0	False		,,,				2504	0																0													50	58	55					9																	35707164		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4860C>T	9.37:g.35707164G>A			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.L1620	ENST00000314888.9	37	c.4860	CCDS35009.1	9																																																																																			TLN1	-	superfamily_Vinculin/catenin	ENSG00000137076		0.607	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	-	0	99	0	G	NM_006289		35707164	-1	tier1	-	no_errors	ENST00000314888	ensembl	human	known	74_37	silent	13.19	79	12	SNP	0.271	A	A	35707164	G	A	35707164	2	1	130	1	0	0	0	0	0	0	0	1	15994	1045	37	1		1	TLN1	9	35707164	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	32459079	35707164	105506267	112	33393											
OSTF1	26578	genome.wustl.edu	37	chr9	77742518	77742518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttgaggaaggtgatattAtctacattactgacatggta	13	14	9	5	0	1	3	0	3	1	0	1	4	1	4	0	3	2	1	0	3	6	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr9:77742518A>G	ENST00000346234.6	+	3	265	c.115A>G	c.(115-117)Atc>Gtc	p.I39V		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	39	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						AGGTGATATTATCTACATTAC	0.264																																																	0													70	70	70					9																	77742518		2201	4275	6476	SO:0001583	missense	0			U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996		"Ankyrin repeat domain containing"	8510	protein-coding gene	gene with protein product		610180				10092216	Standard	NM_012383		Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.115A>G	9.37:g.77742518A>G	ENSP00000340836:p.Ile39Val		Q5W126|Q96IJ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Ankyrin_rpt	p.I39V	ENST00000346234.6	37	c.115	CCDS6651.1	9	.	.	.	.	.	.	.	.	.	.	A	13.14	2.149528	0.37923	.	.	ENSG00000134996	ENST00000346234	T	0.56103	0.48	5.47	5.47	0.80525	Src homology-3 domain (5);	0.056356	0.64402	D	0.000001	T	0.32041	0.0816	N	0.17872	0.535	0.45087	D	0.998107	B;B	0.12630	0.002;0.006	B;B	0.15052	0.002;0.012	T	0.16129	-1.0413	10	0.02654	T	1	-16.6358	10.9212	0.47165	0.843:0.157:0.0:0.0	.	39;39	A8K646;Q92882	.;OSTF1_HUMAN	V	39	ENSP00000340836:I39V	ENSP00000340836:I39V	I	+	1	0	OSTF1	76932338	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.392000	0.44433	2.216000	0.71823	0.528000	0.53228	ATC	OSTF1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	ENSG00000134996		0.264	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTF1	HGNC	protein_coding	OTTHUMT00000052704.1	-	0	109	0	A	NM_012383		77742518	1	tier1	-	no_errors	ENST00000346234	ensembl	human	known	74_37	missense	7.55	98	8	SNP	1.000	G	G	77742518	A	G	77742518	3	3	130	1	0	0	0	0	1	0	0	0	11336	449	16	4	125	4	OSTF1	9	77742518	Missense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	42035354	77742518	63470913	113	33394											
RFK	55312	genome.wustl.edu	37	chr9	79003557	79003557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcctctttgaaggtatGcatgatatgtgtttcctata	10	16	9	6	0	1	2	0	2	1	0	3	3	3	2	2	1	1	3	2	1	6	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr9:79003557G>A	ENST00000376736.1	-	3	583	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	RFK_ENST00000479197.1_5'UTR	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	84					apoptotic process (GO:0006915)|FMN biosynthetic process (GO:0009398)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|reactive oxygen species metabolic process (GO:0072593)|riboflavin biosynthetic process (GO:0009231)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|riboflavin kinase activity (GO:0008531)			pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	TTGAAGGTATGCATGATATGT	0.363																																																	0													103	99	100					9																	79003557		2203	4300	6503	SO:0001583	missense	0			AK002011	CCDS35044.1, CCDS35044.2	9q21.31	2010-11-16			ENSG00000135002	ENSG00000135002			30324	protein-coding gene	gene with protein product		613010				14580199	Standard	NM_018339		Approved	FLJ11149, RIFK	uc004akd.2	Q969G6	OTTHUMG00000020040	ENST00000376736.1:c.250C>T	9.37:g.79003557G>A	ENSP00000365926:p.His84Tyr		Q5JSG9|Q9NUT7	Missense_Mutation	SNP	pfam_Riboflavin_kinase_bac/euk,superfamily_Riboflavin_kinase_bac/euk,smart_Riboflavin_kinase_bac/euk	p.H84Y	ENST00000376736.1	37	c.250	CCDS35044.2	9	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069698	0.55539	.	.	ENSG00000135002	ENST00000376736;ENST00000257452;ENST00000490113	.	.	.	4.54	4.54	0.55810	Riboflavin kinase domain (1);Riboflavin kinase domain, bacterial/eukaryotic (3);	0.000000	0.85682	D	0.000000	T	0.73361	0.3577	M	0.78916	2.43	0.80722	D	1	B;B	0.25563	0.129;0.073	B;B	0.38921	0.285;0.285	T	0.76399	-0.2973	9	0.87932	D	0	-15.222	14.2178	0.65805	0.0:0.0:0.8503:0.1497	.	91;84	B2RDZ2;Q969G6	.;RIFK_HUMAN	Y	84;91;71	.	ENSP00000257452:H91Y	H	-	1	0	RFK	78193377	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	6.545000	0.73883	2.246000	0.74042	0.491000	0.48974	CAT	RFK	-	pfam_Riboflavin_kinase_bac/euk,superfamily_Riboflavin_kinase_bac/euk,smart_Riboflavin_kinase_bac/euk	ENSG00000135002		0.363	RFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFK	HGNC	protein_coding	OTTHUMT00000052720.1	-	0	42	0	G	NM_018339		79003557	-1	tier1	-	no_errors	ENST00000376736	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	79003557	G	A	79003557	3	1	130	1	0	0	0	0	1	0	0	0	13296	1319	46	3	225	3	RFK	9	79003557	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	1261039	79003557	62209874	114	33395											
IARS	3376	genome.wustl.edu	37	chr9	95009691	95009691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgctccagctcctcactgCtcaactgcttgatggacgtc	7	11	8	15	1	2	1	2	1	0	0	5	2	4	2	2	1	5	4	2	1	1	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr9:95009691C>T	ENST00000375643.3	-	26	3025	c.2759G>A	c.(2758-2760)aGc>aAc	p.S920N	IARS_ENST00000375627.1_5'Flank|IARS_ENST00000447699.2_Missense_Mutation_p.S810N|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.S920N	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	920					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)	CTCCTCACTGCTCAACTGCTT	0.507																																																	0													155	127	136					9																	95009691		2203	4300	6503	SO:0001583	missense	0			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.2759G>A	9.37:g.95009691C>T	ENSP00000364794:p.Ser920Asn		A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.S920N	ENST00000375643.3	37	c.2759	CCDS6694.1	9	.	.	.	.	.	.	.	.	.	.	C	11.03	1.520356	0.27211	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000449893	T;T;T	0.12039	2.72;2.72;2.72	5.66	-0.921	0.10472	.	0.400472	0.31495	N	0.007543	T	0.16769	0.0403	M	0.83223	2.63	0.58432	D	0.999998	B;B;B	0.23058	0.079;0.007;0.015	B;B;B	0.26202	0.067;0.021;0.013	T	0.05007	-1.0912	10	0.72032	D	0.01	-3.6666	6.2908	0.21059	0.0:0.221:0.3519:0.4271	.	430;920;765	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	N	920;920;810;920;152	ENSP00000364794:S920N;ENSP00000406448:S920N;ENSP00000415020:S810N	ENSP00000364794:S920N	S	-	2	0	IARS	94049512	0.954000	0.32549	0.429000	0.26710	0.421000	0.31385	0.079000	0.14782	0.078000	0.16900	-0.253000	0.11424	AGC	IARS	-	NULL	ENSG00000196305		0.507	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2		0	35	0	C	NM_002161		95009691	-1			no_errors	ENST00000375643	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.064	T	T	95009691	C	T	95009691	3	4	130	1	0	0	0	0	1	0	0	0	7500	797	28	3	1065	3	IARS	9	95009691	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	16006134	95009691	46203740	115	33396											
PPP3R2	116443	genome.wustl.edu	37	chr9	104356841	104356841	+	Intron	SNP	G	G	T	0	0	1	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	tgccagtccgtcaggttgttGcccaccatcatcttcagcac	7	11	8	15	1	4	0	3	0	1	0	5	0	5	0	4	1	3	3	4	1	0	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr9:104356841G>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.G124G	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TCAGGTTGTTGCCCACCATCA	0.502																																																	0													121	108	113					9																	104356841		2203	4300	6503	SO:0001627	intron_variant	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15199C>A	9.37:g.104356841G>T			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.G124	ENST00000361820.3	37	c.372	CCDS6758.1	9																																																																																			PPP3R2	-	pfscan_EF_hand_dom,prints_Recoverin	ENSG00000188386		0.502	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP3R2	HGNC	protein_coding	OTTHUMT00000053453.1	-	0	48	0	G			104356841	-1	tier1	-	no_errors	ENST00000374806	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.001	T	T	104356841	G	T	104356841	1	4	130	0	1	0	0	0	0	0	0	0	12443	1306	46	3		3	PPP3R2	9	104356841	Intron	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	9347150	104356841	36856590	116	33397											
C5	727	genome.wustl.edu	37	chr9	123759888	123759888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctccagtgaaaaattgatGttgtgaaggccaatttccag	12	12	10	7	0	1	3	0	3	1	0	3	3	2	3	3	1	0	1	3	1	4	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr9:123759888G>T	ENST00000223642.1	-	21	2756	c.2727C>A	c.(2725-2727)aaC>aaA	p.N909K	C5_ENST00000466280.1_5'Flank	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	909					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)	AAAAATTGATGTTGTGAAGGC	0.408																																																	0													71	66	67					9																	123759888		2203	4300	6503	SO:0001583	missense	0			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.2727C>A	9.37:g.123759888G>T	ENSP00000223642:p.Asn909Lys		Q14CJ0|Q27I61	Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom	p.N909K	ENST00000223642.1	37	c.2727	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693826	0.30052	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.33865	1.39	5.53	-1.39	0.08997	.	0.402484	0.27851	N	0.017599	T	0.21103	0.0508	L	0.48362	1.52	0.09310	N	0.999999	B	0.14438	0.01	B	0.11329	0.006	T	0.24190	-1.0167	10	0.10111	T	0.7	.	4.4994	0.11856	0.5142:0.0:0.3268:0.159	.	909	P01031	CO5_HUMAN	K	909;980	ENSP00000223642:N909K	ENSP00000223642:N909K	N	-	3	2	C5	122799709	0.013000	0.17824	0.654000	0.29608	0.900000	0.52787	-0.927000	0.03984	-0.094000	0.12374	0.655000	0.94253	AAC	C5	-	NULL	ENSG00000106804		0.408	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	-	0	67	0	G	NM_001735		123759888	-1	tier1	-	no_errors	ENST00000223642	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.140	T	T	123759888	G	T	123759888	3	4	130	1	0	0	0	0	1	0	0	0	2287	1368	48	3	2387	3	C5	9	123759888	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	19403047	123759888	17453543	117	33398											
PTGS1	5742	genome.wustl.edu	37	chr9	125143816	125143816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggtcctggcttcaccaaGgccttgggccatggggtgag	6	9	16	10	0	1	1	1	1	0	0	2	1	2	1	4	6	0	1	4	6	1	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr9:125143816G>A	ENST00000362012.2	+	6	668	c.663G>A	c.(661-663)aaG>aaA	p.K221K	PTGS1_ENST00000223423.4_Silent_p.K221K|PTGS1_ENST00000373698.5_Silent_p.K112K|PTGS1_ENST00000540753.1_Silent_p.K196K	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	221					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCTTCACCAAGGCCTTGGGCC	0.567																																																	0													59	64	62					9																	125143816		2203	4300	6503	SO:0001819	synonymous_variant	0			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.663G>A	9.37:g.125143816G>A			A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.K221	ENST00000362012.2	37	c.663	CCDS6842.1	9																																																																																			PTGS1	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000095303		0.567	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS1	HGNC	protein_coding	OTTHUMT00000053933.1	-	0	79	0	G			125143816	1	tier1	-	no_errors	ENST00000362012	ensembl	human	known	74_37	silent	10.39	69	8	SNP	0.998	A	A	125143816	G	A	125143816	2	1	130	1	0	0	0	0	0	0	0	1	12798	991	35	3		3	PTGS1	9	125143816	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	1383928	125143816	16069615	118	33399											
ANGPTL2	23452	genome.wustl.edu	37	chr9	129854026	129854026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaaggagtcacccgcattgCcatggtagcgccccagccgc	9	6	11	15	3	1	0	1	0	0	0	1	1	1	1	5	2	3	2	5	2	3	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr9:129854026C>T	ENST00000373425.3	-	4	1822	c.1205G>A	c.(1204-1206)gGc>gAc	p.G402D	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.G100D|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	402	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						ACCCGCATTGCCATGGTAGCG	0.542																																																	0													179	175	177					9																	129854026		2203	4300	6503	SO:0001583	missense	0			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.1205G>A	9.37:g.129854026C>T	ENSP00000362524:p.Gly402Asp		Q5JT58|Q8NCH7	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.G402D	ENST00000373425.3	37	c.1205	CCDS6868.1	9	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038749	0.93630	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	D;D	0.89485	-2.52;-2.52	5.2	5.2	0.72013	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	0.96562	0.8878	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97698	1.0183	10	0.87932	D	0	.	19.1061	0.93296	0.0:1.0:0.0:0.0	.	402	Q9UKU9	ANGL2_HUMAN	D	402;100	ENSP00000362524:G402D;ENSP00000362516:G100D	ENSP00000362516:G100D	G	-	2	0	ANGPTL2	128893847	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.776000	0.85560	2.574000	0.86865	0.655000	0.94253	GGC	ANGPTL2	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000136859		0.542	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL2	HGNC	protein_coding	OTTHUMT00000054129.1	-	0	57	0	C	NM_012098		129854026	-1	tier1	-	no_errors	ENST00000373425	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	129854026	C	T	129854026	3	4	130	1	0	0	0	0	1	0	0	0	614	739	26	3	284	3	ANGPTL2	9	129854026	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	4710210	129854026	11359405	119	33400											
C10orf47	254427	genome.wustl.edu	37	chr10	11911789	11911789	+	Frame_Shift_Del	DEL	G	G	-																															gtggaggacacctgccgcccGggggccccgcagtggagacc																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr10:11911789delG	ENST00000277570.5	+	4	846	c.692delG	c.(691-693)cggfs	p.R231fs	PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_Frame_Shift_Del_p.R35fs	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	231	Pro-rich.																CCTGCCGCCCGGGGGCCCCGC	0.736																																																	0										21,3521		5,11,1755	3	4	4			-10.1	0	10		4	44,7050		10,24,3513	no	frameshift	C10orf47	NM_153256.3		15,35,5268	A1A1,A1R,RR		0.6202,0.5929,0.6111			11911789	65,10571	1932	3859	5791	SO:0001589	frameshift_variant	0			BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.692delG	10.37:g.11911789delG	ENSP00000277570:p.Arg231fs		D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Frame_Shift_Del	DEL	NULL	p.R234fs	ENST00000277570.5	37	c.692	CCDS7085.1	10																																																																																			PROSER2	-	NULL	ENSG00000148426		0.736	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER2	HGNC	protein_coding	OTTHUMT00000090189.2		0	8	0	G	NM_153256		11911789	1			no_errors	ENST00000277570	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.000	0	-	11911789	G	-	11911789	7	5	130	1	0	1	0	1	0	0	0	0	1610	1116	39	0	702	0	C10orf47	10	11911789	Frame_Shift_Del	DEL	G	TCGA-LN-A8I0-01A-11D-A36J-09		11911789	123622958	120	33401											
C10orf67	256815	genome.wustl.edu	37	chr10	23622110	23622110	+	Splice_Site	SNP	G	G	T	0	0	1	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	taaatcatctgaaatgttaaGtctgaaaacaaaggaaatga	20	10	7	4	0	3	3	1	3	2	0	3	4	3	4	0	1	1	1	0	1	8	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr10:23622110G>T	ENST00000323327.4	-	2	278	c.211C>A	c.(211-213)Ctt>Att	p.L71I		NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	71										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						GAAATGTTAAGTCTGAAAACA	0.303																																																	0													91	88	89					10																	23622110		1846	4084	5930	SO:0001630	splice_region_variant	0			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.210-1C>A	10.37:g.23622110G>T			A8MUP9|Q5SWD4	Missense_Mutation	SNP	NULL	p.L71I	ENST00000323327.4	37	c.211	CCDS44365.1	10	.	.	.	.	.	.	.	.	.	.	G	9.655	1.142615	0.21205	.	.	ENSG00000179133	ENST00000376500;ENST00000323327	.	.	.	4.53	-4.15	0.03881	.	1.186530	0.06101	N	0.665353	T	0.22205	0.0535	L	0.43152	1.355	0.09310	N	1	B	0.28713	0.22	B	0.25614	0.062	T	0.20874	-1.0262	9	0.26408	T	0.33	0.0585	1.0188	0.01513	0.3271:0.2742:0.2607:0.138	.	71	Q8IYJ2	CJ067_HUMAN	I	21;71	.	ENSP00000321464:L71I	L	-	1	0	C10orf67	23662116	0.032000	0.19561	0.004000	0.12327	0.082000	0.17680	-0.096000	0.11059	-0.528000	0.06366	-0.176000	0.13171	CTT	C10orf67	-	NULL	ENSG00000179133		0.303	C10orf67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf67	HGNC	protein_coding	OTTHUMT00000047213.1		0	65	0	G	NM_153714	Missense_Mutation	23622110	-1			no_errors	ENST00000323327	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.001	T	T	23622110	G	T	23622110	5	4	130	1	0	0	0	0	0	0	1	0	1617	1043	36	3	362	3	C10orf67	10	23622110	Splice_Site	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	11710321	23622110	111912637	121	33402											
RTKN2	219790	genome.wustl.edu	37	chr10	63964713	63964713	+	Silent	SNP	A	A	G	1	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	gttatagcttgtccaggaacAggattgatgacagagaaatt	14	11	11	5	0	0	3	0	2	0	1	1	6	1	5	1	2	2	2	1	2	4	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr10:63964713A>G	ENST00000373789.3	-	10	1185	c.1089T>C	c.(1087-1089)ccT>ccC	p.P363P	RTKN2_ENST00000315289.2_Silent_p.P165P|RTKN2_ENST00000395265.1_Silent_p.P384P	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	363	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					GTCCAGGAACAGGATTGATGA	0.378																																																	0													92	95	94					10																	63964713		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1089T>C	10.37:g.63964713A>G			Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P363	ENST00000373789.3	37	c.1089	CCDS7263.1	10																																																																																			RTKN2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000182010		0.378	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1	-	0	66	0	A	NM_145307		63964713	-1	tier1	-	no_errors	ENST00000373789	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.285	G	G	63964713	A	G	63964713	2	3	130	1	0	0	0	0	0	0	0	1	13768	175	7	4		4	RTKN2	10	63964713	Silent	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	40342603	63964713	71570034	122	33403											
MYPN	84665	genome.wustl.edu	37	chr10	69934313	69934313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtctctcctaccagcCggattcagaacccagtggct	7	11	8	15	1	2	1	1	0	1	1	5	2	4	2	5	2	3	1	5	2	2	3	rs529221329		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr10:69934313C>T	ENST00000358913.5	+	11	2952	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W	MYPN_ENST00000540630.1_Missense_Mutation_p.R822W|MYPN_ENST00000354393.2_Missense_Mutation_p.R547W	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	822	Pro-rich.				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						TCCTACCAGCCGGATTCAGAA	0.557																																																	0													111	105	107					10																	69934313		2203	4300	6503	SO:0001583	missense	0			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.2464C>T	10.37:g.69934313C>T	ENSP00000351790:p.Arg822Trp		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R822W	ENST00000358913.5	37	c.2464	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756830	0.49362	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.60299	0.2;0.3;0.28	5.86	3.94	0.45596	.	0.281026	0.35378	N	0.003250	T	0.32496	0.0831	N	0.08118	0	0.29922	N	0.822681	B;B;B	0.25007	0.116;0.116;0.039	B;B;B	0.16722	0.016;0.016;0.005	T	0.20505	-1.0273	9	.	.	.	.	10.4164	0.44325	0.2391:0.6971:0.0:0.0638	.	822;547;822	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	W	547;547;822;822	ENSP00000346369:R547W;ENSP00000351790:R822W;ENSP00000441668:R822W	.	R	+	1	2	MYPN	69604319	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	2.909000	0.48758	1.473000	0.48159	0.655000	0.94253	CGG	MYPN	-	NULL	ENSG00000138347		0.557	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	-	0	35	0	C	NM_032578		69934313	1	tier1	-	no_errors	ENST00000358913	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.999	T	T	69934313	C	T	69934313	3	4	130	1	0	0	0	0	1	0	0	0	10136	643	23	1	2502	1	MYPN	10	69934313	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	5969600	69934313	65600434	123	33404											
SEC24C	9632	genome.wustl.edu	37	chr10	75526909	75526909	+	Missense_Mutation	SNP	T	T	A	0	1	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	cagagatgacaggaagctgaTcaatacagacaaggagaagg	18	4	13	6	0	1	5	1	2	0	3	1	8	1	6	0	3	2	1	0	3	5	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr10:75526909T>A	ENST00000339365.2	+	15	2153	c.1991T>A	c.(1990-1992)aTc>aAc	p.I664N	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.I545N|SEC24C_ENST00000345254.4_Missense_Mutation_p.I664N|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	664					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)					AGGAAGCTGATCAATACAGAC	0.498																																																	0													92	90	91					10																	75526909		2203	4300	6503	SO:0001583	missense	0			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.1991T>A	10.37:g.75526909T>A	ENSP00000343405:p.Ile664Asn		B4DZT4|Q8WV25	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.I664N	ENST00000339365.2	37	c.1991	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	T	21.1	4.100715	0.76983	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.46819	0.86;0.86;0.86	5.57	5.57	0.84162	Sec23/Sec24, trunk domain (1);	0.145674	0.64402	D	0.000006	T	0.56891	0.2016	L	0.51422	1.61	0.80722	D	1	P;D;D	0.58268	0.927;0.982;0.965	B;P;P	0.56648	0.381;0.703;0.803	T	0.52859	-0.8519	10	0.30078	T	0.28	-13.9514	15.776	0.78220	0.0:0.0:0.0:1.0	.	545;664;664	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	N	664;664;545	ENSP00000321845:I664N;ENSP00000343405:I664N;ENSP00000402913:I545N	ENSP00000343405:I664N	I	+	2	0	SEC24C	75196915	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.018000	0.88722	2.136000	0.66102	0.454000	0.30748	ATC	SEC24C	-	pfam_Sec23/24_trunk_dom	ENSG00000176986		0.498	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	-	0	43	0	T			75526909	1	tier1	-	no_errors	ENST00000339365	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A	A	75526909	T	A	75526909	3	1	130	1	0	0	0	0	1	0	0	0	14041	1435	50	5	2041	5	SEC24C	10	75526909	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	5592596	75526909	60007838	124	33405											
CWF19L1	55280	genome.wustl.edu	37	chr10	102016226	102016226	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcttccagtgaagataccTttacgacctgggttcaaaga	12	10	10	9	1	1	3	1	1	0	2	2	5	2	3	3	1	3	2	3	1	4	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr10:102016226T>C	ENST00000354105.4	-	5	383	c.297A>G	c.(295-297)aaA>aaG	p.K99K	CWF19L1_ENST00000478047.1_5'Flank|RNU6-422P_ENST00000384632.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	99							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)		TGAAGATACCTTTACGACCTG	0.433																																																	0													75	77	76					10																	102016226		2203	4300	6503	SO:0001819	synonymous_variant	0			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.297A>G	10.37:g.102016226T>C			B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Silent	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.K99	ENST00000354105.4	37	c.297	CCDS7489.1	10																																																																																			CWF19L1	-	NULL	ENSG00000095485		0.433	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L1	HGNC	protein_coding		-	0	62	0	T	NM_018294		102016226	-1	tier1	-	no_errors	ENST00000354105	ensembl	human	known	74_37	silent	32.65	33	16	SNP	0.999	C	C	102016226	T	C	102016226	2	2	130	1	0	0	0	0	0	0	0	1	4080	1606	56	4		4	CWF19L1	10	102016226	Silent	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	26489317	102016226	33518521	125	33406											
DCLRE1A	9937	genome.wustl.edu	37	chr10	115608957	115608957	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttgactttctacatctcTttttttgacgctgtgacctc	7	19	5	10	1	2	3	0	3	2	0	4	3	2	3	1	0	1	1	1	0	2	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr10:115608957T>A	ENST00000361384.2	-	2	2824	c.1907A>T	c.(1906-1908)aAg>aTg	p.K636M	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.K636M	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	636					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)		TCTACATCTCTTTTTTTGACG	0.368								Other identified genes with known or suspected DNA repair function																																									0													169	172	171					10																	115608957		2203	4300	6503	SO:0001583	missense	0				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.1907A>T	10.37:g.115608957T>A	ENSP00000355185:p.Lys636Met		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.K636M	ENST00000361384.2	37	c.1907	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001175	0.74818	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.71817	-0.6;-0.6	5.73	5.73	0.89815	.	0.146049	0.64402	D	0.000007	D	0.83096	0.5180	M	0.71581	2.175	0.46113	D	0.998878	D	0.89917	1.0	D	0.91635	0.999	D	0.85001	0.0900	10	0.87932	D	0	-19.7382	14.8902	0.70604	0.0:0.0:0.0:1.0	.	636	Q6PJP8	DCR1A_HUMAN	M	636	ENSP00000355185:K636M;ENSP00000358311:K636M	ENSP00000355185:K636M	K	-	2	0	DCLRE1A	115598947	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	5.462000	0.66707	2.302000	0.77476	0.533000	0.62120	AAG	DCLRE1A	-	NULL	ENSG00000198924		0.368	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1		0	30	0	T	NM_014881		115608957	-1			no_errors	ENST00000361384	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	115608957	T	A	115608957	3	1	130	1	0	0	0	0	1	0	0	0	4303	1609	56	5	1247	5	DCLRE1A	10	115608957	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	13592731	115608957	19925790	126	33407											
TSSC4	10078	genome.wustl.edu	37	chr11	2423907	2423907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgtcccccagcgtggaggGcgaacacgggacggagtatg	8	4	17	12	5	0	0	0	0	0	0	1	4	1	3	3	4	2	1	3	4	2	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:2423907G>A	ENST00000333256.6	+	3	487	c.44G>A	c.(43-45)gGc>gAc	p.G15D	TSSC4_ENST00000380996.5_Intron|TSSC4_ENST00000451491.2_Missense_Mutation_p.G15D|AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000380992.1_Intron			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	15										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)		AGCGTGGAGGGCGAACACGGG	0.597																																																	0													59	43	49					11																	2423907		2185	4292	6477	SO:0001583	missense	0			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.44G>A	11.37:g.2423907G>A	ENSP00000331087:p.Gly15Asp		C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	NULL	p.G15D	ENST00000333256.6	37	c.44	CCDS7735.1	11	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777993	0.31502	.	.	ENSG00000184281	ENST00000333256;ENST00000437110;ENST00000435795;ENST00000485682;ENST00000496468;ENST00000451491	T;T;T;T;T;T	0.47177	2.44;1.44;0.85;0.86;1.46;2.44	2.67	-2.66	0.06077	.	1.746520	0.04149	U	0.320906	T	0.23926	0.0579	N	0.08118	0	0.09310	N	1	B	0.30361	0.277	B	0.23574	0.047	T	0.10154	-1.0642	9	.	.	.	.	7.5304	0.27679	0.0:0.5928:0.1748:0.2324	.	15	Q9Y5U2	TSSC4_HUMAN	D	15	ENSP00000331087:G15D;ENSP00000396925:G15D;ENSP00000403475:G15D;ENSP00000431430:G15D;ENSP00000435013:G15D;ENSP00000411224:G15D	.	G	+	2	0	TSSC4	2380483	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.061000	0.11693	-0.578000	0.05959	0.462000	0.41574	GGC	TSSC4	-	NULL	ENSG00000184281		0.597	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC4	HGNC	protein_coding	OTTHUMT00000027369.3	-	0	77	0	G	NM_005706		2423907	1	tier1	-	no_errors	ENST00000333256	ensembl	human	known	74_37	missense	48.89	23	22	SNP	0.000	A	A	2423907	G	A	2423907	3	1	130	1	0	0	0	0	1	0	0	0	16715	1203	42	3	46	3	TSSC4	11	2423907	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09		2423907	132582609	127	33408											
OR52A4	390053	genome.wustl.edu	37	chr11	5142488	5142488	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgccttgaaatgtgtggatGagccacatctgaaagaggca	13	9	12	7	0	1	4	0	3	1	1	1	5	1	5	2	2	2	1	2	2	2	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:5142488G>A	ENST00000498233.1	-	0	910							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATGTGTGGATGAGCCACATCT	0.448																																																	0													59	52	54					11																	5142488		2201	4298	6499			0					11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"GPCR / Class A : Olfactory receptors"	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142488G>A				RNA	SNP	-	NULL	ENST00000498233.1	37	NULL		11																																																																																			OR52A4	-	-	ENSG00000205494		0.448	OR52A4-002	KNOWN	basic	processed_transcript	OR52A4	HGNC	pseudogene	OTTHUMT00000268565.1	-	0	40	0	G	NG_029079		5142488	-1	tier1	-	no_errors	ENST00000481634	ensembl	human	known	74_37	rna	30.30	23	10	SNP	0.993	A	A	5142488	G	A	5142488	1	1	130	0	1	0	0	0	0	0	0	0	11148	1277	45	3		3	OR52A4	11	5142488	RNA	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	2718581	5142488	129864028	128	33409											
NAV2	89797	genome.wustl.edu	37	chr11	20067059	20067059	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccaggtctggtcaaccaaAcagacaaggagaaaggcatc	16	5	10	10	0	2	2	1	0	1	2	3	3	2	2	2	4	3	1	2	4	5	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:20067059A>G	ENST00000396087.3	+	15	3913	c.3814A>G	c.(3814-3816)Aca>Gca	p.T1272A	NAV2_ENST00000540292.1_Missense_Mutation_p.T1203A|NAV2_ENST00000527559.2_Missense_Mutation_p.T1201A|NAV2_ENST00000311043.8_Missense_Mutation_p.T335A|NAV2_ENST00000533917.1_Missense_Mutation_p.T335A|NAV2_ENST00000396085.1_Missense_Mutation_p.T1249A|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Missense_Mutation_p.T1185A|NAV2_ENST00000349880.4_Missense_Mutation_p.T1249A	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1272					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						GGTCAACCAAACAGACAAGGA	0.552																																																	0													66	63	64					11																	20067059		2203	4300	6503	SO:0001583	missense	0			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.3814A>G	11.37:g.20067059A>G	ENSP00000379396:p.Thr1272Ala		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.T1272A	ENST00000396087.3	37	c.3814	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683951	0.88639	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.62941	0.55;0.63;0.64;0.06;-0.01;-0.01;2.37;0.95;2.37	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000002	T	0.78457	0.4286	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.996;0.997;1.0;0.999	D;D;D;D;D	0.91635	0.993;0.987;0.99;0.999;0.995	T	0.78666	-0.2115	9	.	.	.	.	16.3453	0.83126	1.0:0.0:0.0:0.0	.	1272;335;335;1249;1185	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	A	1185;1249;1249;1272;1201;1203;335;335;335;335	ENSP00000353871:T1185A;ENSP00000379394:T1249A;ENSP00000309577:T1249A;ENSP00000379396:T1272A;ENSP00000435395:T1201A;ENSP00000443489:T1203A;ENSP00000437316:T335A;ENSP00000437136:T335A;ENSP00000312169:T335A	.	T	+	1	0	NAV2	20023635	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	9.108000	0.94275	2.261000	0.74972	0.533000	0.62120	ACA	NAV2	-	NULL	ENSG00000166833		0.552	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0	33	0	A	NM_145117		20067059	1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	G	G	20067059	A	G	20067059	3	3	130	1	0	0	0	0	1	0	0	0	10222	43	2	4	3908	4	NAV2	11	20067059	Missense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	14924571	20067059	114939457	129	33410											
MADD	8567	genome.wustl.edu	37	chr11	47306054	47306054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggaaaaccccccactgCgctccagctctagcaccaca	11	5	6	19	1	2	0	1	0	1	0	3	1	3	1	5	1	4	3	5	1	3	1	rs375478508		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:47306054C>T	ENST00000311027.5	+	12	2260	c.2095C>T	c.(2095-2097)Cgc>Tgc	p.R699C	MADD_ENST00000406482.1_Missense_Mutation_p.R699C|MADD_ENST00000395336.3_Missense_Mutation_p.R699C|MADD_ENST00000395344.3_Missense_Mutation_p.R699C|MADD_ENST00000402799.1_Missense_Mutation_p.R699C|MADD_ENST00000402192.2_Missense_Mutation_p.R699C|MADD_ENST00000342922.4_Missense_Mutation_p.R699C|MADD_ENST00000407859.3_Missense_Mutation_p.R699C|MADD_ENST00000349238.3_Missense_Mutation_p.R699C	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)		CCCCCCACTGCGCTCCAGCTC	0.592																																																	0													60	65	64					11																	47306054		2201	4298	6499	SO:0001583	missense	0			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.2095C>T	11.37:g.47306054C>T	ENSP00000310933:p.Arg699Cys			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R699C	ENST00000311027.5	37	c.2095	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767284	0.90020	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06687	3.3;3.28;3.28;3.34;3.36;3.28;3.27;3.35;3.3	5.96	5.05	0.67936	.	0.196702	0.56097	N	0.000030	T	0.26774	0.0655	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.983;0.997;0.999;0.978;0.989;0.999;0.999;0.999;0.991;0.999	T	0.01062	-1.1464	10	0.72032	D	0.01	-3.3904	14.9232	0.70856	0.0:0.9319:0.0:0.0681	.	699;699;699;699;699;699;699;699;699;699	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	C	699	ENSP00000343902:R699C;ENSP00000385585:R699C;ENSP00000384435:R699C;ENSP00000304505:R699C;ENSP00000310933:R699C;ENSP00000384204:R699C;ENSP00000378753:R699C;ENSP00000378745:R699C;ENSP00000384287:R699C	ENSP00000310933:R699C	R	+	1	0	MADD	47262630	1.000000	0.71417	0.723000	0.30687	0.994000	0.84299	5.753000	0.68736	1.526000	0.49068	0.655000	0.94253	CGC	MADD	-	NULL	ENSG00000110514		0.592	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1		0	32	0	C			47306054	1			no_errors	ENST00000311027	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	47306054	C	T	47306054	3	4	130	1	0	0	0	0	1	0	0	0	9188	768	27	1	2137	1	MADD	11	47306054	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	27238995	47306054	87700462	130	33411											
KBTBD4	55709	genome.wustl.edu	37	chr11	47599482	47599482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacggcctgaatgtgaccGatctttgaaagtgtagttca	11	11	10	9	2	2	3	1	3	1	0	2	4	2	3	2	1	0	2	2	1	3	3	rs372890651		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:47599482G>A	ENST00000526005.1	-	2	223	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	NDUFS3_ENST00000529276.1_5'Flank|NDUFS3_ENST00000534208.1_5'Flank|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R24W|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000534716.2_5'Flank|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R73W|NDUFS3_ENST00000528192.1_5'Flank|KBTBD4_ENST00000450908.1_3'UTR|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R40W|KBTBD4_ENST00000533290.1_Missense_Mutation_p.R49W|RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000263774.4_5'Flank			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	24										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GAATGTGACCGATCTTTGAAA	0.502																																																	0								G	TRP/ARG,TRP/ARG	2,4400	4.2+/-10.8	0,2,2199	97	91	93		70,118	3.2	1	11		93	0,8596		0,0,4298	no	missense,missense	KBTBD4	NM_016506.5,NM_018095.4	101,101	0,2,6497	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	24/519,40/535	47599482	2,12996	2201	4298	6499	SO:0001583	missense	0			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.70C>T	11.37:g.47599482G>A	ENSP00000433340:p.Arg24Trp		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.R40W	ENST00000526005.1	37	c.118	CCDS7940.1	11	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309490	0.81247	4.54E-4	0.0	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	T;T;T;T;T;T;T;T;T	0.78003	-0.66;-0.73;-0.66;-0.73;-0.62;-0.76;-1.14;-1.14;-0.97	5.13	3.2	0.36748	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.985;0.985	T	0.82030	-0.0659	10	0.72032	D	0.01	-17.5753	14.1605	0.65443	0.0:0.0:0.72:0.28	.	40;24;49	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	W	24;49;24;40;40;73;24;24;24;49	ENSP00000433340:R24W;ENSP00000436713:R49W;ENSP00000378703:R24W;ENSP00000415106:R40W;ENSP00000434477:R73W;ENSP00000433404:R24W;ENSP00000433653:R24W;ENSP00000435651:R24W;ENSP00000433124:R49W	ENSP00000352971:R40W	R	-	1	2	KBTBD4	47556058	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	4.426000	0.59882	0.607000	0.29982	0.561000	0.74099	CGG	KBTBD4	-	superfamily_BTB/POZ_fold	ENSG00000123444		0.502	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KBTBD4	HGNC	protein_coding	OTTHUMT00000391763.1	-	0	45	0	G	NM_016506		47599482	-1	tier1	-	no_errors	ENST00000430070	ensembl	human	known	74_37	missense	40.54	22	15	SNP	1.000	A	A	47599482	G	A	47599482	3	1	130	1	0	0	0	0	1	0	0	0	8022	1057	37	1	1498	1	KBTBD4	11	47599482	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	293428	47599482	87407034	131	33412											
OR4C15	81309	genome.wustl.edu	37	chr11	55322411	55322411	+	Missense_Mutation	SNP	T	T	A	0	1	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	agggggcctcttgcattccaTgatacaaattctttttactt	9	16	7	9	0	2	1	0	1	2	0	3	1	3	1	2	2	3	1	2	2	3	8			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:55322411T>A	ENST00000314644.2	+	1	629	c.629T>A	c.(628-630)aTg>aAg	p.M210K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M210K(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGCATTCCATGATACAAATT	0.483										HNSCC(20;0.049)																																							1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											90	83	85					11																	55322411		2201	4296	6497	SO:0001583	missense	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.629T>A	11.37:g.55322411T>A	ENSP00000324958:p.Met210Lys		Q6IFE2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M210K	ENST00000314644.2	37	c.629	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	T	5.566	0.289326	0.10513	.	.	ENSG00000181939	ENST00000314644	T	0.00145	8.67	5.02	-1.77	0.07982	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	M	0.81497	2.545	0.09310	N	1	B	0.27264	0.173	B	0.35770	0.21	T	0.20405	-1.0276	9	0.66056	D	0.02	.	4.9062	0.13799	0.1358:0.349:0.0:0.5153	.	156	Q8NGM1	OR4CF_HUMAN	K	210	ENSP00000324958:M210K	ENSP00000324958:M210K	M	+	2	0	OR4C15	55078987	0.000000	0.05858	0.010000	0.14722	0.442000	0.32017	-0.113000	0.10774	-0.496000	0.06650	-0.578000	0.04140	ATG	OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181939		0.483	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1		0	35	0	T	NM_001001920		55322411	1			no_errors	ENST00000314644	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.000	A	A	55322411	T	A	55322411	3	1	130	1	0	0	0	0	1	0	0	0	11087	1464	51	5	631	5	OR4C15	11	55322411	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	7722929	55322411	79684105	132	33413											
OR8H1	219469	genome.wustl.edu	37	chr11	56058080	56058080	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacattgacaaaggagttGataaagctaatcacataggg	17	8	9	7	0	1	2	1	2	0	0	1	3	1	3	1	2	1	2	1	2	5	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:56058080G>A	ENST00000313022.2	-	1	486	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CAAAGGAGTTGATAAAGCTAA	0.448																																																	0													84	79	81					11																	56058080		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.459C>T	11.37:g.56058080G>A			B2RNI7|Q6IFC5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I153	ENST00000313022.2	37	c.459	CCDS31526.1	11																																																																																			OR8H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181693		0.448	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	-	0	47	0	G	NM_001005199		56058080	-1	tier1	-	no_errors	ENST00000313022	ensembl	human	known	74_37	silent	31.91	32	15	SNP	0.000	A	A	56058080	G	A	56058080	2	1	130	1	0	0	0	0	0	0	0	1	11276	1280	45	3		3	OR8H1	11	56058080	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	735669	56058080	78948436	133	33414											
OR5R1	219479	genome.wustl.edu	37	chr11	56185550	56185550	+	Silent	SNP	A	A	C	1	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	tacataggtgtgtggagtcgAgtatcaatcttgattaaagt	12	14	11	4	1	2	1	1	1	1	0	3	3	2	2	0	2	1	1	0	2	6	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:56185550A>C	ENST00000312253.1	-	1	158	c.159T>G	c.(157-159)acT>acG	p.T53T		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TGTGGAGTCGAGTATCAATCT	0.453																																																	0													137	131	133					11																	56185550		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.159T>G	11.37:g.56185550A>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T53	ENST00000312253.1	37	c.159	CCDS31530.1	11																																																																																			OR5R1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174942		0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	HGNC	protein_coding	OTTHUMT00000334444.1	-	0	47	0	A	NM_001004744		56185550	-1	tier1	-	no_errors	ENST00000312253	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.000	C	C	56185550	A	C	56185550	2	2	130	1	0	0	0	0	0	0	0	1	11219	291	11	4		4	OR5R1	11	56185550	Silent	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	127470	56185550	78820966	134	33415											
TMEM138	51524	genome.wustl.edu	37	chr11	61135401	61135401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatctccttcagaacttaCgctggaaaaactccaacagc	14	8	5	14	1	2	1	1	0	1	1	4	2	3	2	2	1	5	1	2	1	5	2	rs202210746		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:61135401C>T	ENST00000278826.6	+	4	866	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	TMEM138_ENST00000381787.2_Missense_Mutation_p.R45C|TMEM138_ENST00000542946.1_3'UTR	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	103					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)		p.R103C(2)		central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						TCAGAACTTACGCTGGAAAAA	0.443													C|||	1	0.000199681	0	0.0014	5008	,	,		20554	0		0	False		,,,				2504	0																2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)											224	228	227					11																	61135401		2203	4299	6502	SO:0001583	missense	0			AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.307C>T	11.37:g.61135401C>T	ENSP00000278826:p.Arg103Cys		A6NGA7|B4E044|Q5JPE1	Missense_Mutation	SNP	NULL	p.R103C	ENST00000278826.6	37	c.307	CCDS8005.1	11	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	26.9	4.785055	0.90282	.	.	ENSG00000149483	ENST00000278826;ENST00000381787	D;D	0.89875	-2.58;-2.58	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.95004	0.8383	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.982	D	0.94888	0.8045	10	0.87932	D	0	-1.7267	19.9089	0.97019	0.0:1.0:0.0:0.0	.	103;103	B4E044;Q9NPI0	.;TM138_HUMAN	C	103;45	ENSP00000278826:R103C;ENSP00000371206:R45C	ENSP00000278826:R103C	R	+	1	0	TMEM138	60891977	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.336000	0.52113	2.793000	0.96121	0.655000	0.94253	CGC	TMEM138	-	NULL	ENSG00000149483		0.443	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM138	HGNC	protein_coding	OTTHUMT00000398399.2		0	77	0	C	NM_016464		61135401	1			no_errors	ENST00000278826	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	61135401	C	T	61135401	3	4	130	1	0	0	0	0	1	0	0	0	16100	536	19	1	317	1	TMEM138	11	61135401	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	4949851	61135401	73871115	135	33416											
FEN1	746	genome.wustl.edu	37	chr11	61562992	61562992	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccagggtggggatgtgctGcagaatgaggagggtgagac	9	6	20	6	1	0	3	0	2	0	2	0	6	0	5	1	5	2	2	1	5	1	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:61562992G>A	ENST00000537328.1	-	0	0				FADS2_ENST00000574708.1_Intron|MIR611_ENST00000384869.1_RNA|TMEM258_ENST00000543510.1_5'Flank|FEN1_ENST00000305885.2_Silent_p.L53L	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258							integral component of membrane (GO:0016021)											GGGATGTGCTGCAGAATGAGG	0.517																																																	0													90	79	83					11																	61562992		2202	4299	6501	SO:0001631	upstream_gene_variant	0				CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 10"	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172		11.37:g.61562992G>A	Exception_encountered		A8K6L8|Q9D953|Q9Y2Q7	Silent	SNP	pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.L53	ENST00000537328.1	37	c.159	CCDS8009.1	11																																																																																			FEN1	-	pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N	ENSG00000168496		0.517	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEN1	HGNC	protein_coding	OTTHUMT00000398577.1	-	0	92	0	G	NM_014206		61562992	1	tier1	-	no_errors	ENST00000305885	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.993	A	A	61562992	G	A	61562992	1	1	130	0	1	0	0	0	0	0	0	0	5834	1306	46	3		3	FEN1	11	61562992	5'Flank	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	427591	61562992	73443524	136	33417											
TMEM134	80194	genome.wustl.edu	37	chr11	67234982	67234984	+	In_Frame_Del	DEL	TGT	TGT	-																															gcaggctcacctgcagcaggTgttgtaggagcgctgggtgc																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:67234982_67234984delTGT	ENST00000308022.2	-	3	358_360	c.317_319delACA	c.(316-321)aacacc>acc	p.N106del	TMEM134_ENST00000393877.3_In_Frame_Del_p.N106del|TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000452789.2_In_Frame_Del_p.N97del	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	106						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CTGCAGCAGGTGTTGTAGGAGCG	0.66																																																	0																																										SO:0001651	inframe_deletion	0			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.317_319delACA	11.37:g.67234985_67234987delTGT	ENSP00000312615:p.Asn106del		Q08AK4|Q6PJN3	In_Frame_Del	DEL	pfam_DUF872_TM	p.N106in_frame_del	ENST00000308022.2	37	c.319_317	CCDS8167.1	11																																																																																			TMEM134	-	pfam_DUF872_TM	ENSG00000172663		0.66	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TMEM134	HGNC	protein_coding	OTTHUMT00000398994.1		0	72	0	TGT	NM_025124		67234984	-1	tier1		no_errors	ENST00000545682	ensembl	human	known	74_37	in_frame_del	24.00	38	12	DEL	0.429:0.280:0.315	-	-	67234984	TGT	-	67234982	7	5	130	1	0	1	0	1	0	0	0	0	16097	1696	59	0	288	0	TMEM134	11	67234982	In_Frame_Del	DEL	TGT	TCGA-LN-A8I0-01A-11D-A36J-09	5671990	67234982	67771534	137	33418											
PCF11	51585	genome.wustl.edu	37	chr11	82880460	82880460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcctctgggtcaaggtgGtccaagatttgaaggttgtc	8	11	15	7	0	2	2	1	1	1	1	4	2	3	2	2	5	0	1	2	5	3	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:82880460G>T	ENST00000298281.4	+	8	3535	c.3083G>T	c.(3082-3084)gGt>gTt	p.G1028V		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1028	Gly-rich.				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						GGTCAAGGTGGTCCAAGATTT	0.507																																																	0													71	70	71					11																	82880460		1974	4154	6128	SO:0001583	missense	0			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.3083G>T	11.37:g.82880460G>T	ENSP00000298281:p.Gly1028Val		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom	p.G1028V	ENST00000298281.4	37	c.3083	CCDS44689.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691097	0.88735	.	.	ENSG00000165494	ENST00000298281	T	0.26067	1.76	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000011	T	0.46619	0.1402	L	0.52573	1.65	0.58432	D	0.999999	D	0.69078	0.997	D	0.66196	0.942	T	0.07139	-1.0788	9	.	.	.	-12.5917	20.3811	0.98930	0.0:0.0:1.0:0.0	.	1028	O94913	PCF11_HUMAN	V	1028	ENSP00000298281:G1028V	.	G	+	2	0	PCF11	82558108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.387000	0.73191	2.821000	0.97095	0.650000	0.86243	GGT	PCF11	-	NULL	ENSG00000165494		0.507	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2		0	78	0	G	NM_015885		82880460	1			no_errors	ENST00000298281	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	82880460	G	T	82880460	3	4	130	1	0	0	0	0	1	0	0	0	11612	1261	44	3	3113	3	PCF11	11	82880460	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	15645478	82880460	52126056	138	33419											
ZBTB16	7704	genome.wustl.edu	37	chr11	113934619	113934619	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagccatgagtcccacCaaggctgcagtggacagttt	9	10	10	12	0	1	1	1	1	0	0	2	2	2	2	3	2	2	3	3	2	1	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:113934619C>A	ENST00000335953.4	+	2	977	c.597C>A	c.(595-597)acC>acA	p.T199T	ZBTB16_ENST00000392996.2_Silent_p.T199T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	199					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)		TGAGTCCCACCAAGGCTGCAG	0.597																																																	0													44	48	46					11																	113934619		2201	4296	6497	SO:0001819	synonymous_variant	0			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.597C>A	11.37:g.113934619C>A			Q8TAL4	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T199	ENST00000335953.4	37	c.597	CCDS8367.1	11																																																																																			ZBTB16	-	NULL	ENSG00000109906		0.597	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1		0	17	0	C	NM_006006		113934619	1			no_errors	ENST00000335953	ensembl	human	known	74_37	silent	7.41	25	2	SNP	1.000	A	A	113934619	C	A	113934619	2	1	130	1	0	0	0	0	0	0	0	1	17574	581	21	3		3	ZBTB16	11	113934619	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	31054159	113934619	21071897	139	33420											
ROBO4	54538	genome.wustl.edu	37	chr11	124761263	124761263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggagaagagagtcccctgCggctgcagaggctgtctgag	8	6	18	9	1	1	4	0	1	1	3	2	6	2	4	2	4	2	3	2	4	1	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr11:124761263C>T	ENST00000306534.3	-	12	2365	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R482H	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	627					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R627H(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GAGTCCCCTGCGGCTGCAGAG	0.637																																																	1	Substitution - Missense(1)	lung(1)											33	36	35					11																	124761263		2201	4299	6500	SO:0001583	missense	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1880G>A	11.37:g.124761263C>T	ENSP00000304945:p.Arg627His		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R627H	ENST00000306534.3	37	c.1880	CCDS8455.1	11	.	.	.	.	.	.	.	.	.	.	C	8.171	0.791687	0.16258	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.63255	-0.03;0.34	5.92	0.184	0.15086	.	0.612195	0.13767	N	0.364170	T	0.45895	0.1365	L	0.36672	1.1	0.09310	N	1	B;B;B	0.19935	0.008;0.025;0.04	B;B;B	0.09377	0.003;0.004;0.003	T	0.32161	-0.9917	10	0.45353	T	0.12	.	6.2064	0.20606	0.0:0.5206:0.137:0.3423	.	627;517;627	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	H	627;517;482	ENSP00000304945:R627H;ENSP00000437129:R482H	ENSP00000304945:R627H	R	-	2	0	ROBO4	124266473	0.001000	0.12720	0.212000	0.23672	0.464000	0.32679	-0.365000	0.07573	0.095000	0.17434	-1.106000	0.02097	CGC	ROBO4	-	NULL	ENSG00000154133		0.637	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1		0	54	0	C	NM_019055		124761263	-1			no_errors	ENST00000306534	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.004	T	T	124761263	C	T	124761263	3	4	130	1	0	0	0	0	1	0	0	0	13561	768	27	1	1171	1	ROBO4	11	124761263	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	10826644	124761263	10245253	140	33421											
FOXM1	2305	genome.wustl.edu	37	chr12	2983434	2983434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccactacttgcgtgttggGcatggtggggtggttaataa	7	12	16	6	1	0	0	0	0	0	0	0	0	0	0	1	6	2	3	1	6	3	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr12:2983434G>A	ENST00000359843.3	-	2	279	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	FOXM1_ENST00000361953.3_Missense_Mutation_p.P71S|FOXM1_ENST00000342628.2_Missense_Mutation_p.P71S|RHNO1_ENST00000461997.2_5'Flank|FOXM1_ENST00000537018.1_5'Flank|RHNO1_ENST00000489288.2_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	71					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)			TGCGTGTTGGGCATGGTGGGG	0.507																																																	0													148	130	136					12																	2983434		2203	4300	6503	SO:0001583	missense	0			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.211C>T	12.37:g.2983434G>A	ENSP00000352901:p.Pro71Ser		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P71S	ENST00000359843.3	37	c.211	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	G	9.234	1.036586	0.19669	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.92965	-3.02;-3.14;-3.08	5.15	2.18	0.27775	.	0.237964	0.43919	N	0.000510	D	0.88466	0.6444	L	0.53729	1.69	0.35019	D	0.757616	B;B;B;B;B	0.20052	0.001;0.01;0.004;0.01;0.041	B;B;B;B;B	0.20955	0.009;0.016;0.02;0.016;0.032	T	0.82999	-0.0178	10	0.30078	T	0.28	.	11.9144	0.52757	0.0684:0.2287:0.7029:0.0	.	71;71;71;71;71	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	S	71	ENSP00000342307:P71S;ENSP00000354492:P71S;ENSP00000352901:P71S	ENSP00000342307:P71S	P	-	1	0	FOXM1	2853695	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	2.797000	0.47877	0.033000	0.15463	-0.797000	0.03246	CCC	FOXM1	-	NULL	ENSG00000111206		0.507	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	-	0	60	0	G	NM_021953		2983434	-1	tier1	-	no_errors	ENST00000342628	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	2983434	G	A	2983434	3	1	130	1	0	0	0	0	1	0	0	0	6042	1203	42	3	2230	3	FOXM1	12	2983434	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09		2983434	130868461	141	33422											
VWF	7450	genome.wustl.edu	37	chr12	6125355	6125355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcccggcctggcaccatgCatttctgaagtcaagtatcg	8	10	10	13	2	2	1	1	1	1	0	4	1	3	1	3	2	1	4	3	2	3	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr12:6125355C>T	ENST00000261405.5	-	31	5609	c.5355G>A	c.(5353-5355)atG>atA	p.M1785I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1785	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGCACCATGCATTTCTGAAG	0.577																																																	0													83	72	76					12																	6125355		2203	4300	6503	SO:0001583	missense	0				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.5355G>A	12.37:g.6125355C>T	ENSP00000261405:p.Met1785Ile		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.M1785I	ENST00000261405.5	37	c.5355	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	4.886	0.164704	0.09287	.	.	ENSG00000110799	ENST00000261405	D	0.83250	-1.7	4.58	-2.62	0.06152	von Willebrand factor, type A (3);	1.546720	0.04341	N	0.354002	T	0.61173	0.2326	N	0.01048	-1.04	0.46654	D	0.999148	B	0.02656	0.0	B	0.01281	0.0	T	0.34700	-0.9818	10	0.19590	T	0.45	.	15.7845	0.78291	0.0:0.6853:0.2119:0.1028	.	1785	P04275	VWF_HUMAN	I	1785	ENSP00000261405:M1785I	ENSP00000261405:M1785I	M	-	3	0	VWF	5995616	0.043000	0.20138	0.003000	0.11579	0.664000	0.39144	-0.458000	0.06737	-0.801000	0.04427	-0.314000	0.08810	ATG	VWF	-	pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000110799		0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0	54	0	C	NM_000552		6125355	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.026	T	T	6125355	C	T	6125355	3	4	130	1	0	0	0	0	1	0	0	0	17295	710	25	3	3174	3	VWF	12	6125355	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	3141921	6125355	127726540	142	33423											
BHLHE41	79365	genome.wustl.edu	37	chr12	26277481	26277481	+	Missense_Mutation	SNP	T	T	G	0	1	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	gtctcgtttcatgctcctttTgggtttacacatatacaaag	9	16	7	9	1	2	0	1	0	1	0	4	0	3	0	1	1	3	3	1	1	4	7			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr12:26277481T>G	ENST00000242728.4	-	2	444	c.97A>C	c.(97-99)Aaa>Caa	p.K33Q	RP11-283G6.3_ENST00000545819.1_RNA|RP11-283G6.3_ENST00000535914.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	33					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						ATGCTCCTTTTGGGTTTACAC	0.468																																																	0													193	177	182					12																	26277481		2203	4300	6503	SO:0001583	missense	0			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.97A>C	12.37:g.26277481T>G	ENSP00000242728:p.Lys33Gln		A2I2N8	Missense_Mutation	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.K33Q	ENST00000242728.4	37	c.97	CCDS8706.1	12	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805617	0.70682	.	.	ENSG00000123095	ENST00000242728;ENST00000540731	T	0.58210	0.35	4.2	4.2	0.49525	.	0.134423	0.49916	U	0.000138	T	0.53110	0.1776	L	0.27053	0.805	0.80722	D	1	D	0.61697	0.99	P	0.58577	0.841	T	0.57481	-0.7804	10	0.72032	D	0.01	-1.8461	11.0604	0.47944	0.0:0.0:0.0:1.0	.	33	Q9C0J9	BHE41_HUMAN	Q	33	ENSP00000242728:K33Q	ENSP00000242728:K33Q	K	-	1	0	BHLHE41	26168748	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.007000	0.76335	1.895000	0.54865	0.459000	0.35465	AAA	BHLHE41	-	NULL	ENSG00000123095		0.468	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE41	HGNC	protein_coding	OTTHUMT00000402714.1		0	78	0	T	NM_030762		26277481	-1			no_errors	ENST00000242728	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	G	G	26277481	T	G	26277481	3	3	130	1	0	0	0	0	1	0	0	0	1426	1821	63	4	1367	4	BHLHE41	12	26277481	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	20152126	26277481	107574414	143	33424											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43858461	43858461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttgtttccatcatatcgtGatccaggaagttctgaaggc	9	13	10	9	1	2	2	1	2	1	0	5	3	4	3	2	2	0	3	2	2	3	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr12:43858461G>A	ENST00000389420.3	-	10	1441	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S481L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	481	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S481L(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATCATATCGTGATCCAGGAAG	0.378																																																	2	Substitution - Missense(2)	skin(2)											112	104	107					12																	43858461		2203	4300	6503	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1442C>T	12.37:g.43858461G>A	ENSP00000374071:p.Ser481Leu		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S481L	ENST00000389420.3	37	c.1442	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	G	2.368	-0.345101	0.05208	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.03553	3.89;3.89	4.75	-0.122	0.13531	Metallopeptidase, catalytic domain (1);	0.629156	0.13197	N	0.406244	T	0.01661	0.0053	N	0.02658	-0.545	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.48387	-0.9040	10	0.23891	T	0.37	.	10.2452	0.43336	0.5341:0.0:0.4659:0.0	.	481	P59510	ATS20_HUMAN	L	481	ENSP00000374071:S481L;ENSP00000448341:S481L	ENSP00000374068:S481L	S	-	2	0	ADAMTS20	42144728	0.025000	0.19082	0.149000	0.22428	0.066000	0.16364	1.493000	0.35605	0.069000	0.16605	-0.469000	0.05056	TCA	ADAMTS20	-	NULL	ENSG00000173157		0.378	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1		0	75	0	G	NM_025003		43858461	-1			no_errors	ENST00000389420	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.014	A	A	43858461	G	A	43858461	3	1	130	1	0	0	0	0	1	0	0	0	266	1294	45	3	4409	3	ADAMTS20	12	43858461	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	17580980	43858461	89993434	144	33425											
SRGAP1	57522	genome.wustl.edu	37	chr12	64456706	64456706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttttaagtgctgtgatCttggctaccatgcaagtctg	8	16	9	8	0	2	1	0	1	2	0	2	1	2	1	1	1	4	3	1	1	4	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr12:64456706C>A	ENST00000355086.3	+	7	1335	c.811C>A	c.(811-813)Ctt>Att	p.L271I	SRGAP1_ENST00000543397.1_Missense_Mutation_p.L231I|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L271I|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	271	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)		GTGCTGTGATCTTGGCTACCA	0.383																																																	0													75	67	70					12																	64456706		2203	4300	6503	SO:0001583	missense	0			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.811C>A	12.37:g.64456706C>A	ENSP00000347198:p.Leu271Ile		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L271I	ENST00000355086.3	37	c.811	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385422	0.82792	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.45276	0.9;0.9;2.49	4.78	4.78	0.61160	.	0.000000	0.31976	U	0.006779	T	0.66356	0.2781	M	0.79614	2.46	0.80722	D	1	D;D;P	0.76494	0.999;0.979;0.883	D;P;P	0.72625	0.978;0.905;0.755	T	0.66472	-0.5915	9	.	.	.	.	19.1337	0.93417	0.0:1.0:0.0:0.0	.	271;231;271	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	I	271;271;231	ENSP00000347198:L271I;ENSP00000350480:L271I;ENSP00000437948:L231I	.	L	+	1	0	SRGAP1	62742973	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.050000	0.49877	2.937000	0.99478	0.650000	0.86243	CTT	SRGAP1	-	NULL	ENSG00000196935		0.383	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1		0	47	0	C			64456706	1			no_errors	ENST00000355086	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	64456706	C	A	64456706	3	1	130	1	0	0	0	0	1	0	0	0	15192	913	32	3	837	3	SRGAP1	12	64456706	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	20598245	64456706	69395189	145	33426											
STAB2	55576	genome.wustl.edu	37	chr12	104063385	104063385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccaggaggcttctcaaatCcatgctcaggaaatggacag	12	8	11	10	0	2	0	2	0	1	0	5	3	4	3	2	4	1	2	2	4	2	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr12:104063385C>A	ENST00000388887.2	+	21	2443	c.2239C>A	c.(2239-2241)Cca>Aca	p.P747T	RP11-341G23.3_ENST00000550175.1_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						CTTCTCAAATCCATGCTCAGG	0.408																																																	0													110	107	108					12																	104063385		2203	4300	6503	SO:0001583	missense	0			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.2239C>A	12.37:g.104063385C>A	ENSP00000373539:p.Pro747Thr			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.P747T	ENST00000388887.2	37	c.2239	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947444	0.53186	.	.	ENSG00000136011	ENST00000388887	D	0.83591	-1.74	5.44	4.55	0.56014	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.058726	0.64402	D	0.000002	T	0.81912	0.4923	M	0.87456	2.885	0.51233	D	0.999914	P	0.38535	0.635	B	0.26517	0.07	T	0.82975	-0.0190	10	0.51188	T	0.08	.	12.9088	0.58169	0.0:0.9202:0.0:0.0798	.	747	Q8WWQ8	STAB2_HUMAN	T	747	ENSP00000373539:P747T	ENSP00000373539:P747T	P	+	1	0	STAB2	102587515	0.999000	0.42202	0.648000	0.29521	0.956000	0.61745	4.339000	0.59322	1.313000	0.45069	0.650000	0.86243	CCA	STAB2	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000136011		0.408	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0	47	0	C			104063385	1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	A	A	104063385	C	A	104063385	3	1	130	1	0	0	0	0	1	0	0	0	15285	855	30	3	2321	3	STAB2	12	104063385	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	39606679	104063385	29788510	146	33427											
RAD9B	144715	genome.wustl.edu	37	chr12	110956488	110956488	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatattaaacagatttgagCaatgctgtacacagtgagat	16	12	8	5	0	0	3	0	2	0	2	0	4	0	3	0	0	4	3	0	0	6	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr12:110956488C>T	ENST00000409778.3	+	5	420	c.396C>T	c.(394-396)agC>agT	p.S132S	RAD9B_ENST00000409300.1_Silent_p.S201S|RAD9B_ENST00000433301.1_3'UTR|RAD9B_ENST00000392672.4_Silent_p.S201S|RAD9B_ENST00000409425.1_Silent_p.S129S|RAD9B_ENST00000409246.1_Silent_p.S129S			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	152					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						CAGATTTGAGCAATGCTGTAC	0.333																																																	0													69	69	69					12																	110956488		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.396C>T	12.37:g.110956488C>T			Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Silent	SNP	pfam_Rad9/Ddc1,pirsf_Rad9	p.S201	ENST00000409778.3	37	c.603		12																																																																																			RAD9B	-	pfam_Rad9/Ddc1,pirsf_Rad9	ENSG00000151164		0.333	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	RAD9B	HGNC	protein_coding	OTTHUMT00000404634.1		0	82	0	C	NM_152442		110956488	1			no_errors	ENST00000392672	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.004	T	T	110956488	C	T	110956488	2	4	130	1	0	0	0	0	0	0	0	1	13041	709	25	3		3	RAD9B	12	110956488	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	6893103	110956488	22895407	147	33428											
BRAP	8315	genome.wustl.edu	37	chr12	112093423	112093423	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgttttcccagtagattcGctgagattccagctggcttg	6	15	10	10	1	0	2	0	1	0	2	3	3	2	2	2	1	1	5	2	1	1	7			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr12:112093423G>T	ENST00000327551.6	-	10	1308	c.1168C>A	c.(1168-1170)Cga>Aga	p.R390R	BRAP_ENST00000539060.1_Silent_p.R241R|BRAP_ENST00000419234.4_Silent_p.R420R			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)		p.R420*(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CAGTAGATTCGCTGAGATTCC	0.413																																					Pancreas(146;846 1904 7830 25130 26065)												1	Substitution - Nonsense(1)	large_intestine(1)											174	147	156					12																	112093423		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1168C>A	12.37:g.112093423G>T			B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.R420	ENST00000327551.6	37	c.1258		12																																																																																			BRAP	-	NULL	ENSG00000089234		0.413	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2		0	68	0	G			112093423	-1			no_errors	ENST00000419234	ensembl	human	known	74_37	silent	7.69	36	3	SNP	1.000	T	T	112093423	G	T	112093423	2	4	130	1	0	0	0	0	0	0	0	1	1501	1095	38	2		2	BRAP	12	112093423	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	1136935	112093423	21758472	148	33429											
DNAH10	196385	genome.wustl.edu	37	chr12	124267779	124267779	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggctgaatcagatatccacaGcggttgaggcccaactgaag	12	7	12	10	1	1	4	1	3	0	1	2	4	2	4	2	3	2	2	2	3	4	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr12:124267779G>T	ENST00000409039.3	+	7	809	c.784G>T	c.(784-786)Gcg>Tcg	p.A262S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	262	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATATCCACAGCGGTTGAGGC	0.547																																																	0													105	97	100					12																	124267779		2203	4300	6503	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.784G>T	12.37:g.124267779G>T	ENSP00000386770:p.Ala262Ser		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.A262S	ENST00000409039.3	37	c.784	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450527	0.84101	.	.	ENSG00000197653	ENST00000409039	T	0.55930	0.49	6.01	5.12	0.69794	Dynein heavy chain, domain-1 (1);	0.162287	0.40728	N	0.001037	T	0.66137	0.2759	M	0.78801	2.425	0.33641	D	0.607257	D	0.53462	0.96	P	0.52343	0.696	T	0.80158	-0.1499	10	0.87932	D	0	.	15.0798	0.72106	0.0684:0.0:0.9316:0.0	.	262	Q8IVF4	DYH10_HUMAN	S	262	ENSP00000386770:A262S	ENSP00000386770:A262S	A	+	1	0	DNAH10	122833732	1.000000	0.71417	0.071000	0.20095	0.002000	0.02628	5.154000	0.64894	1.558000	0.49541	0.650000	0.86243	GCG	DNAH10	-	pfam_Dynein_heavy_dom-1	ENSG00000197653		0.547	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	99	0	G			124267779	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.934	T	T	124267779	G	T	124267779	3	4	130	1	0	0	0	0	1	0	0	0	4612	971	34	3	810	3	DNAH10	12	124267779	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	12174356	124267779	9584116	149	33430											
SLITRK5	26050	genome.wustl.edu	37	chr13	88329272	88329272	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agtaaccacttcacctccttGccagtgagtggagttttgga	9	12	10	10	0	1	1	1	1	0	0	2	3	2	3	4	2	2	2	4	2	1	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr13:88329272G>T	ENST00000325089.6	+	2	1848	c.1629G>T	c.(1627-1629)ttG>ttT	p.L543F	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L302F	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	543					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.L543F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCACCTCCTTGCCAGTGAGTG	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											94	93	94					13																	88329272		2203	4300	6503	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1629G>T	13.37:g.88329272G>T	ENSP00000366283:p.Leu543Phe		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L543F	ENST00000325089.6	37	c.1629	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309605	0.40895	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.61510	0.1;0.1	5.22	4.34	0.51931	.	0.000000	0.64402	D	0.000004	T	0.59528	0.2200	L	0.31578	0.945	0.47698	D	0.999493	D;D	0.89917	0.998;1.0	D;D	0.87578	0.978;0.998	T	0.57631	-0.7778	9	.	.	.	-8.1908	6.1151	0.20122	0.1007:0.0:0.7178:0.1815	.	302;543	B4DSH5;O94991	.;SLIK5_HUMAN	F	543;302	ENSP00000366283:L543F;ENSP00000442244:L302F	.	L	+	3	2	SLITRK5	87127273	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	2.198000	0.42705	1.121000	0.41925	0.555000	0.69702	TTG	SLITRK5	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000165300		0.507	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3		0	50	0	G			88329272	1			no_errors	ENST00000325089	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	88329272	G	T	88329272	3	4	130	1	0	0	0	0	1	0	0	0	14791	1310	46	3	1631	3	SLITRK5	13	88329272	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09		88329272	26840606	150	33431											
GPC6	10082	genome.wustl.edu	37	chr13	94482729	94482729	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattcaggttacccgcgcCttcattgctgccaggacctt	8	11	9	13	2	2	1	2	0	0	1	2	2	2	2	4	2	3	2	4	2	2	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr13:94482729C>A	ENST00000377047.4	+	3	1257	c.642C>A	c.(640-642)gcC>gcA	p.A214A	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	214					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)				TTACCCGCGCCTTCATTGCTG	0.498																																																	0													56	54	55					13																	94482729		2203	4300	6503	SO:0001819	synonymous_variant	0			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.642C>A	13.37:g.94482729C>A			A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	pfam_Glypican	p.A214	ENST00000377047.4	37	c.642	CCDS9469.1	13																																																																																			GPC6	-	pfam_Glypican	ENSG00000183098		0.498	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	-	0	127	0	C	NM_005708		94482729	1	tier1	-	no_errors	ENST00000377047	ensembl	human	known	74_37	silent	41.46	48	34	SNP	0.996	A	A	94482729	C	A	94482729	2	1	130	1	0	0	0	0	0	0	0	1	6628	668	24	3		3	GPC6	13	94482729	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	6153457	94482729	20687149	151	33432											
FAM155A	728215	genome.wustl.edu	37	chr13	108518145	108518145	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	ggtggtcatagtcctggtaaGcctcgacgcactgcctgcaa	8	9	12	12	2	1	0	1	0	0	0	3	1	2	0	3	3	3	3	3	3	3	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr13:108518145G>C	ENST00000375915.2	-	1	938	c.800C>G	c.(799-801)gCt>gGt	p.A267G		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	267						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTCCTGGTAAGCCTCGACGCA	0.512																																																	0													142	125	130					13																	108518145		2203	4300	6503	SO:0001583	missense	0			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.800C>G	13.37:g.108518145G>C	ENSP00000365080:p.Ala267Gly		B2RUV1|B7Z334	Missense_Mutation	SNP	NULL	p.A267G	ENST00000375915.2	37	c.800	CCDS32006.1	13	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145186	0.57044	.	.	ENSG00000204442	ENST00000375915	T	0.47869	0.83	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	L	0.50333	1.59	0.54753	D	0.999983	D	0.89917	1.0	D	0.85130	0.997	T	0.62992	-0.6736	10	0.51188	T	0.08	.	19.2604	0.93966	0.0:0.0:1.0:0.0	.	267	B1AL88	F155A_HUMAN	G	267	ENSP00000365080:A267G	ENSP00000365080:A267G	A	-	2	0	FAM155A	107316146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.439000	0.97543	2.793000	0.96121	0.563000	0.77884	GCT	FAM155A	-	NULL	ENSG00000204442		0.512	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155A	HGNC	protein_coding	OTTHUMT00000045736.2	-	0	55	0	G	NM_001080396		108518145	-1	tier1	-	no_errors	ENST00000375915	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	C	C	108518145	G	C	108518145	3	2	130	1	0	0	0	0	1	0	0	0	5484	971	34	5	588	5	FAM155A	13	108518145	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	14035416	108518145	6651733	152	33433											
MYH6	4624	genome.wustl.edu	37	chr14	23871799	23871799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctctgaagtgaagcccagcaCgtcaaaggcactctgggaca	12	6	11	12	1	3	2	1	2	2	0	3	3	3	3	1	2	2	2	1	2	3	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr14:23871799C>T	ENST00000356287.3	-	11	1044	c.1015G>A	c.(1015-1017)Gtg>Atg	p.V339M	MYH6_ENST00000405093.3_Missense_Mutation_p.V339M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	339	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)		AAGCCCAGCACGTCAAAGGCA	0.617																																																	0													89	85	86					14																	23871799		2203	4300	6503	SO:0001583	missense	0			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.1015G>A	14.37:g.23871799C>T	ENSP00000348634:p.Val339Met		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V339M	ENST00000356287.3	37	c.1015	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	.	16.39	3.109921	0.56398	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.73363	-0.74;-0.74	3.83	2.84	0.33178	Myosin head, motor domain (2);	.	.	.	.	T	0.80560	0.4646	M	0.87180	2.865	0.46586	D	0.99911	P;P	0.47677	0.899;0.899	P;P	0.51229	0.663;0.663	T	0.82532	-0.0410	9	0.87932	D	0	.	7.2292	0.26033	0.1692:0.733:0.0:0.0977	.	339;339	D9YZU2;P13533	.;MYH6_HUMAN	M	339	ENSP00000386041:V339M;ENSP00000348634:V339M	ENSP00000348634:V339M	V	-	1	0	MYH6	22941639	0.021000	0.18746	0.991000	0.47740	0.787000	0.44495	0.342000	0.19926	1.869000	0.54173	0.313000	0.20887	GTG	MYH6	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197616		0.617	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0	45	0	C			23871799	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	50.00	14	14	SNP	0.970	T	T	23871799	C	T	23871799	3	4	130	1	0	0	0	0	1	0	0	0	10076	536	19	1	4916	1	MYH6	14	23871799	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09		23871799	83477741	153	33434											
AKAP6	9472	genome.wustl.edu	37	chr14	33293482	33293482	+	Frame_Shift_Del	DEL	T	T	-																															acaaggaagatattgaatgcTtttttgaggcctgtgttgag																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr14:33293482delT	ENST00000280979.4	+	13	6633	c.6463delT	c.(6463-6465)tttfs	p.F2156fs	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2156					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TATTGAATGCTTTTTTGAGGC	0.483																																					Melanoma(49;821 1200 7288 13647 42351)												0													83	78	80					14																	33293482		2203	4300	6503	SO:0001589	frameshift_variant	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6463delT	14.37:g.33293482delT	ENSP00000280979:p.Phe2156fs		A7E242|A7E2D4|O15028	Frame_Shift_Del	DEL	smart_Spectrin/alpha-actinin	p.F2156fs	ENST00000280979.4	37	c.6463	CCDS9644.1	14																																																																																			AKAP6	-	NULL	ENSG00000151320		0.483	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2		0	17	0	T	NM_004274		33293482	1	tier1		no_errors	ENST00000280979	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	0.998	-	-	33293482	T	-	33293482	7	5	130	1	0	1	0	1	0	0	0	0	455	1609	56	0	6509	0	AKAP6	14	33293482	Frame_Shift_Del	DEL	T	TCGA-LN-A8I0-01A-11D-A36J-09	9421683	33293482	74056058	154	33435											
KCNH5	27133	genome.wustl.edu	37	chr14	63246448	63246448	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacccagagaacatacccGtttcctcagattgcaagtaa	14	8	7	12	1	1	3	1	0	0	3	2	4	2	3	3	0	3	3	3	0	4	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr14:63246448G>T	ENST00000322893.7	-	10	2285	c.2017C>A	c.(2017-2019)Cgg>Agg	p.R673R	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.R615R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	673					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)	p.R673W(2)		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)		GAACATACCCGTTTCCTCAGA	0.398																																																	2	Substitution - Missense(2)	kidney(1)|central_nervous_system(1)											111	113	112					14																	63246448		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2017C>A	14.37:g.63246448G>T			C9JP98	Silent	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.R673	ENST00000322893.7	37	c.2017	CCDS9756.1	14																																																																																			KCNH5	-	prints_K_chnl_volt-dep_EAG	ENSG00000140015		0.398	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1		0	69	0	G	NM_139318		63246448	-1			no_errors	ENST00000322893	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.976	T	T	63246448	G	T	63246448	2	4	130	1	0	0	0	0	0	0	0	1	8062	1144	40	2		2	KCNH5	14	63246448	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	29952966	63246448	44103092	155	33436											
SYNE2	23224	genome.wustl.edu	37	chr14	64492102	64492102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttttgaattcatccgaagGcaaaatgccacttgaggaaa	14	10	10	7	1	1	2	1	2	0	0	2	4	2	3	2	3	1	2	2	3	5	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr14:64492102G>T	ENST00000344113.4	+	41	6427	c.6215G>T	c.(6214-6216)gGc>gTc	p.G2072V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.G2072V|SYNE2_ENST00000358025.3_Missense_Mutation_p.G2072V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2072					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)		TCATCCGAAGGCAAAATGCCA	0.353																																																	0													60	56	58					14																	64492102		1812	4080	5892	SO:0001583	missense	0			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.6215G>T	14.37:g.64492102G>T	ENSP00000341781:p.Gly2072Val		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.G2072V	ENST00000344113.4	37	c.6215	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258897	0.39896	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.71698	-0.59;-0.58;-0.42	5.9	5.01	0.66863	.	0.184065	0.38837	N	0.001547	T	0.56891	0.2016	L	0.27053	0.805	0.80722	D	1	B;B	0.32203	0.246;0.36	B;B	0.31442	0.061;0.13	T	0.57142	-0.7862	10	0.41790	T	0.15	.	11.3626	0.49653	0.0:0.1362:0.7222:0.1416	.	2072;2072	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	2072	ENSP00000350719:G2072V;ENSP00000341781:G2072V;ENSP00000452570:G2072V	ENSP00000261678:G2072V	G	+	2	0	SYNE2	63561855	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.576000	0.46033	1.496000	0.48567	0.455000	0.32223	GGC	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	85	0	G	NM_182914		64492102	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	64492102	G	T	64492102	3	4	130	1	0	0	0	0	1	0	0	0	15493	1203	42	3	6373	3	SYNE2	14	64492102	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	1245654	64492102	42857438	156	33437											
FAM164C	79696	genome.wustl.edu	37	chr14	75537781	75537781	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctacccaaggccccctGagccgagagagttttcatct	9	10	9	13	1	3	2	1	1	2	1	3	4	3	2	4	1	2	1	4	1	2	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr14:75537781G>T	ENST00000524913.1	+	2	994	c.505G>T	c.(505-507)Gag>Tag	p.E169*	ACYP1_ENST00000555463.1_5'Flank|ZC2HC1C_ENST00000439583.2_Nonsense_Mutation_p.E169*|ZC2HC1C_ENST00000238686.8_Nonsense_Mutation_p.E169*|ZC2HC1C_ENST00000526748.1_Intron	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	169							metal ion binding (GO:0046872)										AAGGCCCCCTGAGCCGAGAGA	0.562																																																	0													107	108	107					14																	75537781		1921	4119	6040	SO:0001587	stop_gained	0			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.505G>T	14.37:g.75537781G>T	ENSP00000435550:p.Glu169*		E9PJQ0|Q9BTA8|Q9H5S9	Nonsense_Mutation	SNP	NULL	p.E169*	ENST00000524913.1	37	c.505	CCDS41972.1	14	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073185	0.36566	.	.	ENSG00000119703	ENST00000524913;ENST00000238686;ENST00000439583;ENST00000526130	.	.	.	4.72	4.72	0.59763	.	0.202400	0.29126	N	0.013066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.7456	8.1843	0.31330	0.0855:0.1602:0.7543:0.0	.	.	.	.	X	169	.	ENSP00000238686:E169X	E	+	1	0	FAM164C	74607534	0.023000	0.18921	0.926000	0.36857	0.114000	0.19823	1.063000	0.30567	2.463000	0.83235	0.557000	0.71058	GAG	ZC2HC1C	-	NULL	ENSG00000119703		0.562	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1C	HGNC	protein_coding	OTTHUMT00000394616.4	-	0	53	0	G	NM_001042430		75537781	1	tier1	-	no_errors	ENST00000524913	ensembl	human	known	74_37	nonsense	9.76	37	4	SNP	0.625	T	T	75537781	G	T	75537781	4	4	130	1	0	0	0	0	0	1	0	0	5498	1291	45	3	507	3	FAM164C	14	75537781	Nonsense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	11045679	75537781	31811759	157	33438											
C14orf1	11161	genome.wustl.edu	37	chr14	76117945	76117945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttctacttctagataccGgagcccgaccagcataccca	10	9	8	14	2	2	1	0	0	2	1	2	3	2	2	4	2	5	2	4	2	4	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr14:76117945G>A	ENST00000256319.6	-	5	821	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron	NM_007176.3	NP_009107.1	Q9UKR5	ERG28_HUMAN	chromosome 14 open reading frame 1	126					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)		TCTAGATACCGGAGCCCGACC	0.463																																																	0													170	167	168					14																	76117945		2203	4300	6503	SO:0001583	missense	0			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.376C>T	14.37:g.76117945G>A	ENSP00000256319:p.Arg126Trp		Q9P093|Q9UPI2	Missense_Mutation	SNP	pfam_Erg28	p.R126W	ENST00000256319.6	37	c.376	CCDS9845.1	14	.	.	.	.	.	.	.	.	.	.	G	15.39	2.817998	0.50633	.	.	ENSG00000133935	ENST00000256319	.	.	.	5.69	3.88	0.44766	.	0.273735	0.42548	N	0.000685	T	0.41789	0.1174	N	0.19112	0.55	0.37887	D	0.930579	B	0.02656	0.0	B	0.01281	0.0	T	0.32955	-0.9887	9	0.46703	T	0.11	-5.1913	11.9093	0.52729	0.1419:0.0:0.8581:0.0	.	126	Q9UKR5	ERG28_HUMAN	W	126	.	ENSP00000256319:R126W	R	-	1	2	C14orf1	75187698	1.000000	0.71417	0.954000	0.39281	0.872000	0.50106	5.178000	0.65037	0.765000	0.33221	0.650000	0.86243	CGG	C14orf1	-	NULL	ENSG00000133935		0.463	C14orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf1	HGNC	protein_coding	OTTHUMT00000413683.1		0	70	0	G	NM_007176		76117945	-1			no_errors	ENST00000256319	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	76117945	G	A	76117945	3	1	130	1	0	0	0	0	1	0	0	0	1738	1115	39	1	50	1	C14orf1	14	76117945	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	580164	76117945	31231595	158	33439											
YY1	7528	genome.wustl.edu	37	chr14	100743822	100743822	+	Missense_Mutation	SNP	A	A	G	1	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	gcgcacacatgtgcgaatccAtaccggagacaggccctatg	11	6	11	13	3	0	1	0	0	0	1	1	3	1	1	3	2	2	1	3	2	3	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr14:100743822A>G	ENST00000262238.4	+	5	1390	c.1130A>G	c.(1129-1131)cAt>cGt	p.H377R	AL157871.2_ENST00000553954.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	377	Binding to DNA.|Involved in masking transactivation domain.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|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)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				GTGCGAATCCATACCGGAGAC	0.478																																																	0													132	116	121					14																	100743822		2203	4300	6503	SO:0001583	missense	0			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.1130A>G	14.37:g.100743822A>G	ENSP00000262238:p.His377Arg		Q14935	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.H377R	ENST00000262238.4	37	c.1130	CCDS9957.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.51|19.51	3.840572|3.840572	0.71488|0.71488	.|.	.|.	ENSG00000100811|ENSG00000100811	ENST00000262238|ENST00000554804	T|.	0.67523|.	-0.27|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.85630|0.85630	0.5741|0.5741	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.64776|.	0.929|.	D|D	0.89212|0.89212	0.3565|0.3565	10|5	0.87932|.	D|.	0|.	.|.	16.1778|16.1778	0.81874|0.81874	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	377|.	P25490|.	TYY1_HUMAN|.	R|V	377|153	ENSP00000262238:H377R|.	ENSP00000262238:H377R|.	H|I	+|+	2|1	0|0	YY1|YY1	99813575|99813575	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	9.255000|9.255000	0.95524|0.95524	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	CAT|ATA	YY1	-	smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	ENSG00000100811		0.478	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	HGNC	protein_coding	OTTHUMT00000318277.1	-	0	35	0	A	NM_003403		100743822	1	tier1	-	no_errors	ENST00000262238	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	G	G	100743822	A	G	100743822	3	3	130	1	0	0	0	0	1	0	0	0	17556	217	8	4	1148	4	YY1	14	100743822	Missense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	24625877	100743822	6605718	159	33440											
AHNAK2	113146	genome.wustl.edu	37	chr14	105414400	105414400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaggtccccctccagccacGcaccatccagcttggctccc	7	6	7	21	1	0	0	0	0	0	0	4	0	4	0	7	2	2	3	7	2	0	1	rs199976398	byFrequency	TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr14:105414400G>A	ENST00000333244.5	-	7	7507	c.7388C>T	c.(7387-7389)gCg>gTg	p.A2463V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2463						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)			CTCCAGCCACGCACCATCCAG	0.607													.|||	2	0.000399361	0	0	5008	,	,		17510	0		0.002	False		,,,				2504	0																0													123	145	138					14																	105414400		2061	4194	6255	SO:0001583	missense	0			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.7388C>T	14.37:g.105414400G>A	ENSP00000353114:p.Ala2463Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A2463V	ENST00000333244.5	37	c.7388	CCDS45177.1	14	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	-	13.14	2.147590	0.37923	.	.	ENSG00000185567	ENST00000333244	T	0.00912	5.55	1.88	-3.75	0.04372	.	.	.	.	.	T	0.00384	0.0012	N	0.03917	-0.325	0.09310	N	1	P	0.52170	0.951	B	0.37047	0.24	T	0.47005	-0.9150	9	0.21540	T	0.41	.	1.6255	0.02722	0.4811:0.0:0.2289:0.2899	.	2463	Q8IVF2	AHNK2_HUMAN	V	2463	ENSP00000353114:A2463V	ENSP00000353114:A2463V	A	-	2	0	AHNAK2	104485445	0.112000	0.22096	0.000000	0.03702	0.000000	0.00434	0.923000	0.28757	-0.658000	0.05366	-0.674000	0.03794	GCG	AHNAK2	-	NULL	ENSG00000185567		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0	121	0	G	NM_138420		105414400	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	A	A	105414400	G	A	105414400	3	1	130	1	0	0	0	0	1	0	0	0	415	1087	38	1	10003	1	AHNAK2	14	105414400	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	4670578	105414400	1935140	160	33441											
OTUD7A	161725	genome.wustl.edu	37	chr15	31796012	31796012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtacacggggtcctcagaGttgtccacactgtgaaacaa	11	9	10	11	2	1	2	1	1	0	1	4	2	3	2	2	2	2	2	2	2	3	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr15:31796012G>T	ENST00000307050.4	-	7	974	c.882C>A	c.(880-882)aaC>aaA	p.N294K	OTUD7A_ENST00000382902.1_Missense_Mutation_p.N301K	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	294	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)	p.N294K(1)		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)		GGTCCTCAGAGTTGTCCACAC	0.502																																																	1	Substitution - Missense(1)	large_intestine(1)											78	74	75					15																	31796012		2202	4300	6502	SO:0001583	missense	0			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.882C>A	15.37:g.31796012G>T	ENSP00000305926:p.Asn294Lys		Q8IWK5	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.N301K	ENST00000307050.4	37	c.903	CCDS10026.1	15	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846758	0.51164	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.32023	1.48;1.47	4.67	1.21	0.21127	Ovarian tumour, otubain (2);	0.091150	0.64402	D	0.000001	T	0.42585	0.1209	L	0.59436	1.845	0.54753	D	0.999986	D;D	0.71674	0.998;0.998	D;D	0.69654	0.941;0.965	T	0.26608	-1.0098	10	0.62326	D	0.03	-39.3718	5.5081	0.16866	0.6176:0.0:0.3824:0.0	.	301;294	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	K	294;301	ENSP00000305926:N294K;ENSP00000372358:N301K	ENSP00000305926:N294K	N	-	3	2	OTUD7A	29583304	1.000000	0.71417	0.980000	0.43619	0.710000	0.40934	2.082000	0.41605	0.507000	0.28148	-0.136000	0.14681	AAC	OTUD7A	-	pfam_OTU,pfscan_OTU	ENSG00000169918		0.502	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2		0	36	0	G	NM_130901		31796012	-1			no_errors	ENST00000382902	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	31796012	G	T	31796012	3	4	130	1	0	0	0	0	1	0	0	0	11357	1020	36	3	1918	3	OTUD7A	15	31796012	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09		31796012	70735380	161	33442											
CEP152	22995	genome.wustl.edu	37	chr15	49054609	49054609	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttggtaatattttcacaAtgtttgagttccaattcaat	11	19	6	5	0	2	1	2	1	0	0	3	1	3	1	1	1	0	4	1	1	5	8			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr15:49054609A>T	ENST00000380950.2	-	18	2728	c.2541T>A	c.(2539-2541)caT>caA	p.H847Q	CEP152_ENST00000325747.5_Missense_Mutation_p.H754Q|CEP152_ENST00000399334.3_Missense_Mutation_p.H847Q	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	847					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)		TATTTTCACAATGTTTGAGTT	0.358																																																	0													142	125	130					15																	49054609		1817	4079	5896	SO:0001583	missense	0			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.2541T>A	15.37:g.49054609A>T	ENSP00000370337:p.His847Gln		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.H847Q	ENST00000380950.2	37	c.2541	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	A	9.076	0.998120	0.19043	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.55413	0.54;0.55;0.52	5.18	-4.58	0.03410	.	0.211100	0.42420	D	0.000703	T	0.33556	0.0867	L	0.27053	0.805	0.25575	N	0.986856	P;B;B	0.34757	0.467;0.118;0.256	B;B;B	0.31686	0.134;0.094;0.132	T	0.15122	-1.0448	10	0.54805	T	0.06	-6.8208	14.496	0.67688	0.4171:0.0:0.5829:0.0	.	754;847;847	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	Q	847;754;847	ENSP00000370337:H847Q;ENSP00000321000:H754Q;ENSP00000382271:H847Q	ENSP00000321000:H754Q	H	-	3	2	CEP152	46841901	0.981000	0.34729	0.789000	0.31954	0.124000	0.20399	0.188000	0.17018	-0.970000	0.03569	-0.297000	0.09499	CAT	CEP152	-	NULL	ENSG00000103995		0.358	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	-	0	47	0	A	NM_014985		49054609	-1	tier1	-	no_errors	ENST00000380950	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.364	T	T	49054609	A	T	49054609	3	4	130	1	0	0	0	0	1	0	0	0	3255	98	4	5	2459	5	CEP152	15	49054609	Missense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	17258597	49054609	53476783	162	33443											
SHC4	399694	genome.wustl.edu	37	chr15	49254947	49254947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttcatgcttgccatgCgggggatcaaggtgcacagt	8	9	13	11	1	2	0	2	0	0	0	2	1	2	1	2	3	5	3	2	3	1	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr15:49254947C>T	ENST00000332408.4	-	1	694	c.266G>A	c.(265-267)cGc>cAc	p.R89H		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	89	CH2.				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)		GCTTGCCATGCGGGGGATCAA	0.627																																																	0													44	48	47					15																	49254947		2197	4295	6492	SO:0001583	missense	0			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.266G>A	15.37:g.49254947C>T	ENSP00000329668:p.Arg89His		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2	p.R89H	ENST00000332408.4	37	c.266	CCDS10130.1	15	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795960	0.70452	.	.	ENSG00000185634	ENST00000332408	T	0.52754	0.65	4.91	4.91	0.64330	.	0.106721	0.40554	N	0.001063	T	0.59985	0.2234	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	T	0.62774	-0.6783	10	0.87932	D	0	-16.4854	11.4039	0.49885	0.0:0.9168:0.0:0.0832	.	89	Q6S5L8	SHC4_HUMAN	H	89	ENSP00000329668:R89H	ENSP00000329668:R89H	R	-	2	0	SHC4	47042239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.489000	0.53237	2.543000	0.85770	0.655000	0.94253	CGC	SHC4	-	NULL	ENSG00000185634		0.627	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC4	HGNC	protein_coding	OTTHUMT00000254371.1	-	0	89	0	C	NM_203349		49254947	-1	tier1	-	no_errors	ENST00000332408	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	49254947	C	T	49254947	3	4	130	1	0	0	0	0	1	0	0	0	14318	768	27	1	1674	1	SHC4	15	49254947	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	200338	49254947	53276445	163	33444											
DTWD1	56986	genome.wustl.edu	37	chr15	49926993	49926994	+	Splice_Site	INS	-	-	A																															ctgatgagcgacttcaaggtINSaaaaaaaaaatgtttttttg																								rs111446752	byFrequency	TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr15:49926993_49926994insA	ENST00000251250.6	+	5	874		c.e5+2		DTWD1_ENST00000415425.1_Splice_Site|DTWD1_ENST00000558653.1_Splice_Site|DTWD1_ENST00000403028.3_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	0			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	-	e3+2	ENST00000251250.6	37	c.667+2_667+1	CCDS10132.1	15																																																																																			DTWD1	-	-	ENSG00000104047		0.327	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD1	HGNC	protein_coding	OTTHUMT00000254431.2		0	31	0	-	NM_020234	Intron	49926994	1	tier1		no_errors	ENST00000251250	ensembl	human	known	74_37	splice_site_ins	13.33	26	4	INS	1.000:1.000	A	A	49926994	-	A	49926993	8	5	130	1	0	1	1	0	0	0	1	0	4805	1652	57	0	679	0	DTWD1	15	49926993	Splice_Site	INS	-	TCGA-LN-A8I0-01A-11D-A36J-09	672046	49926993	52604399	164	33445											
KIAA1370	56204	genome.wustl.edu	37	chr15	52879367	52879367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacttgtattgttcctgaaGgaggtactcgataacccctt	9	13	8	11	1	0	1	0	1	0	0	2	3	1	2	4	2	2	3	4	2	4	7			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr15:52879367G>T	ENST00000261844.7	-	11	3010	c.2858C>A	c.(2857-2859)cCt>cAt	p.P953H	FAM214A_ENST00000546305.2_Missense_Mutation_p.P960H|RP11-23N2.4_ENST00000566344.1_RNA|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	953																	TGTTCCTGAAGGAGGTACTCG	0.368																																																	0													145	134	138					15																	52879367		1850	4095	5945	SO:0001583	missense	0			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2858C>A	15.37:g.52879367G>T	ENSP00000261844:p.Pro953His		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.P953H	ENST00000261844.7	37	c.2858	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199850	0.79015	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T;T	0.67345	1.42;-0.26;1.42	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.81612	0.4859	M	0.71581	2.175	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.80764	0.994;0.985	T	0.83257	-0.0050	10	0.62326	D	0.03	.	18.7072	0.91643	0.0:0.0:1.0:0.0	.	960;953	F5H8G0;Q32MH5	.;K1370_HUMAN	H	953;953;952;960	ENSP00000261844:P953H;ENSP00000444447:P952H;ENSP00000443598:P960H	ENSP00000261844:P953H	P	-	2	0	KIAA1370	50666659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.400000	0.97290	2.405000	0.81733	0.650000	0.86243	CCT	FAM214A	-	NULL	ENSG00000047346		0.368	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	-	0	106	0	G	NM_019600		52879367	-1	tier1	-	no_errors	ENST00000261844	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	52879367	G	T	52879367	3	4	130	1	0	0	0	0	1	0	0	0	8253	1000	35	3	384	3	KIAA1370	15	52879367	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	2952374	52879367	49652025	165	33446											
TLN2	83660	genome.wustl.edu	37	chr15	63053890	63053890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcccatcaggccctggatgGggatttctctgaagacaacc	9	9	10	13	0	2	2	1	1	1	1	4	4	3	4	3	4	1	0	3	4	2	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr15:63053890G>A	ENST00000561311.1	+	37	4879	c.4649G>A	c.(4648-4650)gGg>gAg	p.G1550E	TLN2_ENST00000306829.6_Missense_Mutation_p.G1550E|TLN2_ENST00000472902.1_5'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1550					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						GCCCTGGATGGGGATTTCTCT	0.488																																																	0													114	111	112					15																	63053890		2203	4300	6503	SO:0001583	missense	0			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.4649G>A	15.37:g.63053890G>A	ENSP00000453508:p.Gly1550Glu		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.G1550E	ENST00000561311.1	37	c.4649	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198571	0.38806	.	.	ENSG00000171914	ENST00000306829	T	0.28666	1.6	5.41	5.41	0.78517	.	0.093179	0.85682	D	0.000000	T	0.29652	0.0740	L	0.41710	1.295	0.80722	D	1	B	0.18310	0.027	B	0.24155	0.051	T	0.05784	-1.0864	10	0.20046	T	0.44	-10.8282	19.1929	0.93674	0.0:0.0:1.0:0.0	.	1550	Q9Y4G6	TLN2_HUMAN	E	1550	ENSP00000303476:G1550E	ENSP00000303476:G1550E	G	+	2	0	TLN2	60841182	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.706000	0.84615	2.535000	0.85469	0.563000	0.77884	GGG	TLN2	-	superfamily_Vinculin/catenin	ENSG00000171914		0.488	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0	61	0	G			63053890	1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A	A	63053890	G	A	63053890	3	1	130	1	0	0	0	0	1	0	0	0	15995	1232	43	3	4787	3	TLN2	15	63053890	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	10174523	63053890	39477502	166	33447											
UACA	55075	genome.wustl.edu	37	chr15	70976776	70976776	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatattcgcaacctagcatGagggcagttctaaatggaaa	14	9	9	9	1	1	1	0	1	1	0	2	2	1	2	2	2	2	4	2	2	6	5	rs145754980		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr15:70976776G>T	ENST00000322954.6	-	8	797	c.612C>A	c.(610-612)ctC>ctA	p.L204L	UACA_ENST00000559183.1_5'Flank|UACA_ENST00000379983.2_Silent_p.L191L|UACA_ENST00000560441.1_Silent_p.L191L|UACA_ENST00000539319.1_Intron	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	204					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						AACCTAGCATGAGGGCAGTTC	0.393																																																	0													118	114	115					15																	70976776		2199	4297	6496	SO:0001819	synonymous_variant	0			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.612C>A	15.37:g.70976776G>T			G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.L204	ENST00000322954.6	37	c.612	CCDS10235.1	15																																																																																			UACA	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137831		0.393	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	-	0	47	0	G			70976776	-1	tier1	-	no_errors	ENST00000322954	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.986	T	T	70976776	G	T	70976776	2	4	130	1	0	0	0	0	0	0	0	1	16873	1277	45	3		3	UACA	15	70976776	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	7922886	70976776	31554616	167	33448											
NEO1	4756	genome.wustl.edu	37	chr15	73590734	73590734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacaccatgccagcctcttCgtctcaaacatgctgcactg	9	10	7	15	1	2	1	1	1	2	0	4	1	2	1	3	0	5	2	3	0	1	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr15:73590734C>T	ENST00000339362.5	+	28	4394	c.3947C>T	c.(3946-3948)tCg>tTg	p.S1316L	NEO1_ENST00000261908.6_Missense_Mutation_p.S1316L|NEO1_ENST00000558964.1_Missense_Mutation_p.S1305L|NEO1_ENST00000560262.1_Missense_Mutation_p.S1263L			Q92859	NEO1_HUMAN	neogenin 1	1316					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						CCAGCCTCTTCGTCTCAAACA	0.493																																																	0													93	88	89					15																	73590734		2198	4297	6495	SO:0001583	missense	0			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.3947C>T	15.37:g.73590734C>T	ENSP00000341198:p.Ser1316Leu		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1316L	ENST00000339362.5	37	c.3947	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049018	0.75846	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T	0.44881	0.91	5.22	5.22	0.72569	Neogenin, C-terminal (1);	0.121933	0.56097	D	0.000022	T	0.54481	0.1861	L	0.54323	1.7	0.58432	D	0.999997	P;B;D;D	0.61697	0.726;0.02;0.973;0.99	B;B;P;P	0.54499	0.189;0.016;0.616;0.754	T	0.57435	-0.7812	10	0.62326	D	0.03	-7.4355	18.3946	0.90494	0.0:1.0:0.0:0.0	.	1263;1305;1027;1316	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	L	1263;1027;1316	ENSP00000261908:S1316L	ENSP00000261908:S1316L	S	+	2	0	NEO1	71377787	1.000000	0.71417	0.993000	0.49108	0.910000	0.53928	5.412000	0.66392	2.443000	0.82685	0.655000	0.94253	TCG	NEO1	-	pfam_Neogenin_C	ENSG00000067141		0.493	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2		0	69	0	C	NM_002499		73590734	1			no_errors	ENST00000261908	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	73590734	C	T	73590734	3	4	130	1	0	0	0	0	1	0	0	0	10375	893	31	1	4053	1	NEO1	15	73590734	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	2613958	73590734	28940658	168	33449											
TFAP4	7023	genome.wustl.edu	37	chr16	4312652	4312652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgatctcccgccgaatcCgccgctcctggtcccgctga	4	8	11	18	6	1	1	0	1	1	0	5	3	4	1	6	2	0	2	6	2	1	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr16:4312652C>T	ENST00000204517.6	-	2	468	c.140G>A	c.(139-141)cGg>cAg	p.R47Q		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	47					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.R47Q(1)		NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCGCCGAATCCGCCGCTCCTG	0.622																																																	1	Substitution - Missense(1)	ovary(1)											88	91	90					16																	4312652		2197	4300	6497	SO:0001583	missense	0			X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.140G>A	16.37:g.4312652C>T	ENSP00000204517:p.Arg47Gln		O60409	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R47Q	ENST00000204517.6	37	c.140	CCDS10510.1	16	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829840	0.91036	.	.	ENSG00000090447	ENST00000204517	D	0.98876	-5.2	5.57	5.57	0.84162	Helix-loop-helix DNA-binding (2);	0.000000	0.64402	D	0.000001	D	0.97639	0.9226	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.99888	1.1127	10	0.62326	D	0.03	.	18.3242	0.90247	0.0:1.0:0.0:0.0	.	47	Q01664	TFAP4_HUMAN	Q	47	ENSP00000204517:R47Q	ENSP00000204517:R47Q	R	-	2	0	TFAP4	4252653	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.192000	0.77771	2.618000	0.88619	0.591000	0.81541	CGG	TFAP4	-	superfamily_bHLH_dom,pfscan_bHLH_dom	ENSG00000090447		0.622	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP4	HGNC	protein_coding	OTTHUMT00000251595.2		0	36	0	C	NM_003223		4312652	-1			no_errors	ENST00000204517	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	4312652	C	T	4312652	3	4	130	1	0	0	0	0	1	0	0	0	15839	652	23	1	900	1	TFAP4	16	4312652	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09		4312652	86042101	169	33450											
MVP	9961	genome.wustl.edu	37	chr16	29845364	29845364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaaggagtgctgggaccGggacggcaaggagagggtga	10	3	20	8	3	0	2	0	1	0	1	0	6	0	5	2	6	1	3	2	6	2	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr16:29845364G>A	ENST00000357402.5	+	5	692	c.554G>A	c.(553-555)cGg>cAg	p.R185Q	MVP_ENST00000395353.1_Missense_Mutation_p.R185Q|MVP_ENST00000452209.2_Intron	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	185					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TGCTGGGACCGGGACGGCAAG	0.652																																																	0													41	35	37					16																	29845364		2197	4300	6497	SO:0001583	missense	0			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.554G>A	16.37:g.29845364G>A	ENSP00000349977:p.Arg185Gln		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.R185Q	ENST00000357402.5	37	c.554	CCDS10656.1	16	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845308	0.91197	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.33438	1.41;1.41	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69669	-0.5083	10	0.49607	T	0.09	-1.0571	17.8657	0.88794	0.0:0.0:1.0:0.0	.	185	Q14764	MVP_HUMAN	Q	185	ENSP00000349977:R185Q;ENSP00000378760:R185Q	ENSP00000349977:R185Q	R	+	2	0	MVP	29752865	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	7.926000	0.87569	2.826000	0.97356	0.491000	0.48974	CGG	MVP	-	pfam_Vault_N	ENSG00000013364		0.652	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	-	0	28	0	G	NM_005115		29845364	1	tier1	-	no_errors	ENST00000357402	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	A	A	29845364	G	A	29845364	3	1	130	1	0	0	0	0	1	0	0	0	10034	1116	39	1	568	1	MVP	16	29845364	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	25532712	29845364	60509389	170	33451											
ZNF267	10308	genome.wustl.edu	37	chr16	31927437	31927437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcagatgttattcagcatCggagaattcatactggccag	11	12	10	8	1	3	2	3	0	0	2	4	3	3	2	1	2	2	3	1	2	3	5	rs145439451		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr16:31927437C>T	ENST00000300870.10	+	4	2076	c.1867C>T	c.(1867-1869)Cgg>Tgg	p.R623W		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	623					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)	p.R623W(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TATTCAGCATCGGAGAATTCA	0.423																																																	1	Substitution - Missense(1)	large_intestine(1)						C	TRP/ARG	1,4393		0,1,2196	72	75	74		1867	0.5	0.2	16	dbSNP_134	74	0,8600		0,0,4300	no	missense	ZNF267	NM_003414.4	101	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	623/744	31927437	1,12993	2197	4300	6497	SO:0001583	missense	0			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1867C>T	16.37:g.31927437C>T	ENSP00000300870:p.Arg623Trp		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R623W	ENST00000300870.10	37	c.1867	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	13.38	2.219099	0.39201	2.28E-4	0.0	ENSG00000185947	ENST00000300870	T	0.18810	2.19	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13457	0.0326	L	0.52573	1.65	0.80722	D	1	P	0.39311	0.667	B	0.28849	0.095	T	0.11817	-1.0572	9	0.72032	D	0.01	.	4.1882	0.10409	1.0E-4:0.5524:0.4475:0.0	.	623	Q14586	ZN267_HUMAN	W	623	ENSP00000300870:R623W	ENSP00000300870:R623W	R	+	1	2	ZNF267	31834938	0.000000	0.05858	0.246000	0.24233	0.228000	0.25075	-0.112000	0.10791	0.488000	0.27723	0.491000	0.48974	CGG	ZNF267	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185947		0.423	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2		0	67	0	C	NM_003414		31927437	1			no_errors	ENST00000300870	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.999	T	T	31927437	C	T	31927437	3	4	130	1	0	0	0	0	1	0	0	0	17854	875	31	1	1881	1	ZNF267	16	31927437	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	2082073	31927437	58427316	171	33452											
PHLPP2	23035	genome.wustl.edu	37	chr16	71736521	71736521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccataaaatcgaatcataCagccgaggtcaggatttgta	15	9	8	9	2	2	0	2	0	0	0	3	3	2	1	2	2	2	1	2	2	5	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr16:71736521C>T	ENST00000568954.1	-	3	776	c.398G>A	c.(397-399)tGt>tAt	p.C133Y	PHLPP2_ENST00000567016.1_Missense_Mutation_p.C168Y|PHLPP2_ENST00000360429.3_Missense_Mutation_p.C133Y|PHLPP2_ENST00000356272.3_Missense_Mutation_p.C133Y|PHLPP2_ENST00000393524.2_Missense_Mutation_p.C133Y			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	133					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCGAATCATACAGCCGAGGTC	0.413																																																	0													95	89	91					16																	71736521		2198	4300	6498	SO:0001583	missense	0			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.398G>A	16.37:g.71736521C>T	ENSP00000457991:p.Cys133Tyr		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom	p.C133Y	ENST00000568954.1	37	c.398	CCDS32479.1	16	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306773	0.81247	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.33654	1.4;1.4;1.4	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.49808	-0.8900	10	0.21014	T	0.42	-9.3891	18.22	0.89898	0.0:1.0:0.0:0.0	.	133;133	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	Y	133	ENSP00000353610:C133Y;ENSP00000348611:C133Y;ENSP00000377159:C133Y	ENSP00000348611:C133Y	C	-	2	0	PHLPP2	70294022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.007000	0.76335	2.639000	0.89480	0.555000	0.69702	TGT	PHLPP2	-	NULL	ENSG00000040199		0.413	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	-	0	99	0	C	NM_015020		71736521	-1	tier1	-	no_errors	ENST00000356272	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	71736521	C	T	71736521	3	4	130	1	0	0	0	0	1	0	0	0	11894	478	17	3	3641	3	PHLPP2	16	71736521	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	39809084	71736521	18618232	172	33453											
PMFBP1	83449	genome.wustl.edu	37	chr16	72188212	72188212	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagaatagtaagaagtctgCaactcctctgtgtgaaactc	14	10	9	8	0	2	3	0	1	2	2	4	4	3	3	1	0	3	2	1	0	6	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr16:72188212C>T	ENST00000237353.10	-	4	573	c.312G>A	c.(310-312)ttG>ttA	p.L104L	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000537465.1_Silent_p.L104L|PMFBP1_ENST00000543746.1_5'UTR	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	104						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AAGAAGTCTGCAACTCCTCTG	0.448																																																	0													204	184	191					16																	72188212		2198	4300	6498	SO:0001819	synonymous_variant	0			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.312G>A	16.37:g.72188212C>T			B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	NULL	p.L104	ENST00000237353.10	37	c.312	CCDS32483.1	16																																																																																			PMFBP1	-	NULL	ENSG00000118557		0.448	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2		0	88	0	C	NM_031293		72188212	-1			no_errors	ENST00000537465	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.978	T	T	72188212	C	T	72188212	2	4	130	1	0	0	0	0	0	0	0	1	12173	709	25	3		3	PMFBP1	16	72188212	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	451691	72188212	18166541	173	33454											
FA2H	79152	genome.wustl.edu	37	chr16	74752979	74752979	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacaggaagcggtggatgagGtactcgatgaggctccagag	12	6	16	7	2	0	3	0	2	0	1	2	6	1	5	1	5	3	2	1	5	3	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr16:74752979G>A	ENST00000219368.3	-	5	762	c.693C>T	c.(691-693)taC>taT	p.Y231Y	FA2H_ENST00000544337.1_Silent_p.Y18Y	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	231					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						GGTGGATGAGGTACTCGATGA	0.597																																																	0													93	81	85					16																	74752979		2198	4300	6498	SO:0001819	synonymous_variant	0			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.693C>T	16.37:g.74752979G>A			B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd	p.T148I	ENST00000219368.3	37	c.443	CCDS10911.1	16																																																																																			FA2H	-	NULL	ENSG00000103089		0.597	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FA2H	HGNC	protein_coding	OTTHUMT00000269015.2	-	0	55	0	G	NM_024306		74752979	-1	tier1	-	no_errors	ENST00000567683	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	74752979	G	A	74752979	2	1	130	1	0	0	0	0	0	0	0	1	5371	1256	44	3		3	FA2H	16	74752979	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	2564767	74752979	15601774	174	33455											
KARS	3735	genome.wustl.edu	37	chr16	75670405	75670405	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcgaagatcatagaaGatgagctttcccccagaagc	12	9	8	12	1	2	5	1	1	1	4	5	6	3	5	3	0	2	1	3	0	4	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr16:75670405G>T	ENST00000302445.3	-	4	468	c.429C>A	c.(427-429)atC>atA	p.I143I	KARS_ENST00000319410.5_Silent_p.I171I|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	143					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)	GATCATAGAAGATGAGCTTTC	0.443																																																	0													144	145	145					16																	75670405		2198	4300	6498	SO:0001819	synonymous_variant	0			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.429C>A	16.37:g.75670405G>T			A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	NULL	p.S116Y	ENST00000302445.3	37	c.347	CCDS10923.1	16																																																																																			KARS	-	NULL	ENSG00000065427		0.443	KARS-001	KNOWN	basic|CCDS	protein_coding	KARS	HGNC	protein_coding	OTTHUMT00000269023.1		0	78	0	G	NM_005548		75670405	-1			no_errors	ENST00000564578	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T	T	75670405	G	T	75670405	2	4	130	1	0	0	0	0	0	0	0	1	8007	932	33	3		3	KARS	16	75670405	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	917426	75670405	14684348	175	33456											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77327044	77327044	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagcacacagccctcctGcagctcaggtctggggagac	9	6	11	15	0	2	1	1	0	1	1	4	2	4	1	3	3	4	3	3	3	1	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr16:77327044G>A	ENST00000282849.5	-	20	3536	c.3118C>T	c.(3118-3120)Cag>Tag	p.Q1040*	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1040	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q1040K(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAGCCCTCCTGCAGCTCAGGT	0.607																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											85	80	82					16																	77327044		2198	4300	6498	SO:0001587	stop_gained	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3118C>T	16.37:g.77327044G>A	ENSP00000282849:p.Gln1040*		Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q1040*	ENST00000282849.5	37	c.3118	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	G	41	9.103688	0.99066	.	.	ENSG00000140873	ENST00000282849	.	.	.	6.16	5.2	0.72013	.	0.123859	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	13.726	0.62759	0.0:0.0:0.7196:0.2804	.	.	.	.	X	1040	.	ENSP00000282849:Q1040X	Q	-	1	0	ADAMTS18	75884545	1.000000	0.71417	0.899000	0.35326	0.000000	0.00434	7.127000	0.77210	1.603000	0.50134	-0.188000	0.12872	CAG	ADAMTS18	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000140873		0.607	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1		0	34	0	G			77327044	-1			no_errors	ENST00000282849	ensembl	human	known	74_37	nonsense	7.69	36	3	SNP	0.993	A	A	77327044	G	A	77327044	4	1	130	1	0	0	0	0	0	1	0	0	263	1328	46	3	563	3	ADAMTS18	16	77327044	Nonsense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	1656639	77327044	13027709	176	33457											
TAF1C	9013	genome.wustl.edu	37	chr16	84217308	84217308	+	Missense_Mutation	SNP	A	A	G	1	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	gaatgagacccttaccgatgAggggaggcagcatggggaga	12	5	17	7	1	0	3	0	2	0	2	0	8	0	4	2	5	2	2	2	5	2	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr16:84217308A>G	ENST00000567759.1	-	3	397	c.215T>C	c.(214-216)cTc>cCc	p.L72P	TAF1C_ENST00000541676.1_Missense_Mutation_p.L5P|TAF1C_ENST00000565544.1_5'Flank|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000341690.6_Missense_Mutation_p.L5P|TAF1C_ENST00000566732.1_Missense_Mutation_p.L72P|TAF1C_ENST00000378541.4_Missense_Mutation_p.L72P	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	72					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CTTACCGATGAGGGGAGGCAG	0.617																																																	0													69	68	68					16																	84217308		2200	4300	6500	SO:0001583	missense	0			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.215T>C	16.37:g.84217308A>G	ENSP00000455265:p.Leu72Pro		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.L72P	ENST00000567759.1	37	c.215	CCDS32496.1	16	.	.	.	.	.	.	.	.	.	.	A	4.220	0.039742	0.08148	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.43294	0.95;3.73;3.73	4.35	1.05	0.20165	.	0.841691	0.10145	N	0.710335	T	0.23171	0.0560	N	0.22421	0.69	0.09310	N	0.999997	B;B;P;B	0.38420	0.399;0.399;0.63;0.399	B;B;B;B	0.34652	0.095;0.134;0.187;0.092	T	0.12243	-1.0555	10	0.37606	T	0.19	0.0336	2.9563	0.05877	0.1775:0.539:0.18:0.1034	.	72;72;72;5	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	P	72;5;5;72	ENSP00000367802:L72P;ENSP00000437900:L5P;ENSP00000345305:L5P	ENSP00000345305:L5P	L	-	2	0	TAF1C	82774809	0.003000	0.15002	0.008000	0.14137	0.000000	0.00434	0.142000	0.16096	0.064000	0.16427	-1.074000	0.02243	CTC	TAF1C	-	NULL	ENSG00000103168		0.617	TAF1C-001	KNOWN	basic|CCDS	protein_coding	TAF1C	HGNC	protein_coding	OTTHUMT00000433045.2	-	0	61	0	A	NM_139353		84217308	-1	tier1	-	no_errors	ENST00000378541	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.027	G	G	84217308	A	G	84217308	3	3	130	1	0	0	0	0	1	0	0	0	15568	304	11	4	2442	4	TAF1C	16	84217308	Missense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	6890264	84217308	6137445	177	33458											
CDH15	1013	genome.wustl.edu	37	chr16	89259946	89259946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaaggggctgctgcacGgcccccaggacgaccttcga	7	4	16	14	3	0	0	0	0	0	0	1	3	0	1	3	6	2	4	3	6	1	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr16:89259946G>T	ENST00000289746.2	+	12	1989	c.1924G>T	c.(1924-1926)Ggc>Tgc	p.G642C		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	642					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCTGCTGCACGGCCCCCAGGA	0.682																																																	0													26	26	26					16																	89259946		2182	4288	6470	SO:0001583	missense	0			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1924G>T	16.37:g.89259946G>T	ENSP00000289746:p.Gly642Cys			Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G642C	ENST00000289746.2	37	c.1924	CCDS10976.1	16	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795822	0.31777	.	.	ENSG00000129910	ENST00000289746	T	0.77358	-1.09	4.47	2.5	0.30297	Cadherin, cytoplasmic domain (1);	0.124835	0.34484	U	0.003928	D	0.83312	0.5227	M	0.69463	2.115	0.26392	N	0.97656	D	0.76494	0.999	D	0.67382	0.951	T	0.74019	-0.3799	10	0.41790	T	0.15	.	9.6914	0.40131	0.1768:0.0:0.8232:0.0	.	642	P55291	CAD15_HUMAN	C	642	ENSP00000289746:G642C	ENSP00000289746:G642C	G	+	1	0	CDH15	87787447	0.010000	0.17322	0.008000	0.14137	0.050000	0.14768	0.434000	0.21494	0.330000	0.23485	-0.252000	0.11476	GGC	CDH15	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000129910		0.682	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	HGNC	protein_coding	OTTHUMT00000269920.1		0	71	0	G	NM_004933		89259946	1			no_errors	ENST00000289746	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.483	T	T	89259946	G	T	89259946	3	4	130	1	0	0	0	0	1	0	0	0	3107	1116	39	2	1970	2	CDH15	16	89259946	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	5042638	89259946	1094807	178	33459											
RAP1GAP2	23108	genome.wustl.edu	37	chr17	2929399	2929399	+	Missense_Mutation	SNP	T	T	A	0	1	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	atcccagctctccggaaatcTgccccaacaaggagaagtaa	14	6	8	13	1	2	1	0	0	2	1	4	3	3	2	4	2	3	2	4	2	5	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:2929399T>A	ENST00000254695.8	+	20	1939	c.1849T>A	c.(1849-1851)Tgc>Agc	p.C617S	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.C617S|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.C602S|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.C598S	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	617	Ser-rich.				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						TCCGGAAATCTGCCCCAACAA	0.582																																																	0													45	48	47					17																	2929399		2031	4186	6217	SO:0001583	missense	0			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.1849T>A	17.37:g.2929399T>A	ENSP00000254695:p.Cys617Ser		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.C617S	ENST00000254695.8	37	c.1849	CCDS45573.1	17	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718842	0.48622	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.88586	-2.4;-2.39;-2.4;-2.4	5.48	4.4	0.53042	.	0.084181	0.85682	D	0.000000	D	0.83640	0.5298	M	0.63428	1.95	0.37026	D	0.896466	P;P	0.41848	0.763;0.651	B;B	0.39840	0.311;0.165	T	0.79748	-0.1673	10	0.09084	T	0.74	-22.0793	6.8396	0.23955	0.0:0.0771:0.1508:0.7721	.	602;617	Q684P5-2;Q684P5	.;RPGP2_HUMAN	S	617;602;598;617	ENSP00000254695:C617S;ENSP00000389824:C602S;ENSP00000439688:C598S;ENSP00000444890:C617S	ENSP00000254695:C617S	C	+	1	0	RAP1GAP2	2876149	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.324000	0.59228	0.923000	0.37045	0.459000	0.35465	TGC	RAP1GAP2	-	NULL	ENSG00000132359		0.582	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	-	0	60	0	T			2929399	1	tier1	-	no_errors	ENST00000254695	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	2929399	T	A	2929399	3	1	130	1	0	0	0	0	1	0	0	0	13083	1580	55	5	1927	5	RAP1GAP2	17	2929399	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09		2929399	78265811	179	33460											
RAP1GAP2	23108	genome.wustl.edu	37	chr17	2929685	2929685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacggccgtgccatctcccGctcctcctccagcaccagca	8	6	7	20	3	1	0	0	0	1	0	5	0	4	0	7	1	4	3	7	1	1	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:2929685G>T	ENST00000254695.8	+	21	1997	c.1907G>T	c.(1906-1908)cGc>cTc	p.R636L	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.R636L|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.R621L|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.R617L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	636	Ser-rich.				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						GCCATCTCCCGCTCCTCCTCC	0.667																																																	0													16	19	18					17																	2929685		2010	4068	6078	SO:0001583	missense	0			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.1907G>T	17.37:g.2929685G>T	ENSP00000254695:p.Arg636Leu		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.R636L	ENST00000254695.8	37	c.1907	CCDS45573.1	17	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825087	0.90955	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.94613	-3.47;-3.45;-3.46;-3.47	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.97102	0.9053	M	0.82630	2.6	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.97447	1.0025	10	0.87932	D	0	-33.9952	13.4508	0.61169	0.0781:0.0:0.9219:0.0	.	621;636	Q684P5-2;Q684P5	.;RPGP2_HUMAN	L	636;621;617;636	ENSP00000254695:R636L;ENSP00000389824:R621L;ENSP00000439688:R617L;ENSP00000444890:R636L	ENSP00000254695:R636L	R	+	2	0	RAP1GAP2	2876435	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.901000	0.75693	2.530000	0.85305	0.462000	0.41574	CGC	RAP1GAP2	-	NULL	ENSG00000132359		0.667	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	-	0	61	0	G			2929685	1	tier1	-	no_errors	ENST00000254695	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	2929685	G	T	2929685	3	4	130	1	0	0	0	0	1	0	0	0	13083	1087	38	2	1989	2	RAP1GAP2	17	2929685	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	286	2929685	78265525	180	33461											
SPNS2	124976	genome.wustl.edu	37	chr17	4435944	4435944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagctcaaggcccggacCtcatggctccgagatatgaa	11	6	11	13	2	2	2	2	1	0	1	3	5	3	3	4	3	1	2	4	3	3	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:4435944C>T	ENST00000329078.3	+	6	1110	c.900C>T	c.(898-900)acC>acT	p.T300T		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	300					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						AGGCCCGGACCTCATGGCTCC	0.597																																																	0													72	72	72					17																	4435944		1568	3582	5150	SO:0001819	synonymous_variant	0			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.900C>T	17.37:g.4435944C>T			B9A1T3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T300	ENST00000329078.3	37	c.900	CCDS42237.1	17																																																																																			SPNS2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000183018		0.597	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	-	0	25	0	C			4435944	1	tier1	-	no_errors	ENST00000329078	ensembl	human	known	74_37	silent	36.00	16	9	SNP	1.000	T	T	4435944	C	T	4435944	2	4	130	1	0	0	0	0	0	0	0	1	15122	668	24	3		3	SPNS2	17	4435944	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	1506259	4435944	76759266	181	33462											
TP53	7157	genome.wustl.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T																															tcccaggacaggcacaaacaCgcacctcaaagctgttccgt																								rs28934576		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	0	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	GMAF=0.0005	0	22	0	C	NM_000546		7577120	-1	tier1	rs28934576	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.864	T	T	7577120	C	T	7577120	3	4	130	1	0	0	0	0	1	0	0	0	16429	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	3141176	7577120	73618090	182	33463	122	2									
TP53	7157	genome.wustl.edu	37	chr17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T																															aggacaggcacaaacacgcaCctcaaagctgttccgtccca																								rs121912657		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAACACGCACCTCAAAGCTG	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	GRCh37	CM920676	TP53	M	rs121912657						62	54	57					17																	7577124		2203	4300	6503	SO:0001583	missense	0	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.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V272M	ENST00000269305.4	37	c.814	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	21	0	C	NM_000546		7577124	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	T	T	7577124	C	T	7577124	3	4	130	1	0	0	0	0	1	0	0	0	16429	507	18	3	472	3	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	4	7577124	73618086	183	33464	122	2									
PFAS	5198	genome.wustl.edu	37	chr17	8161134	8161134	+	Missense_Mutation	SNP	T	T	A	0	1	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	ttccctcccaggttacaatcTgccctgggaggatccaagct	8	10	9	14	0	1	0	0	0	1	0	4	2	4	2	4	3	3	2	4	3	3	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:8161134T>A	ENST00000314666.6	+	10	1218	c.1085T>A	c.(1084-1086)cTg>cAg	p.L362Q	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	362					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GGTTACAATCTGCCCTGGGAG	0.537																																																	0													62	59	60					17																	8161134		2203	4300	6503	SO:0001583	missense	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1085T>A	17.37:g.8161134T>A	ENSP00000313490:p.Leu362Gln		A6H8V8	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	p.L362Q	ENST00000314666.6	37	c.1085	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586678	0.46110	.	.	ENSG00000178921	ENST00000314666	T	0.44881	0.91	5.79	5.79	0.91817	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.070525	0.56097	D	0.000030	T	0.39733	0.1089	L	0.38692	1.165	0.80722	D	1	P	0.47106	0.89	P	0.50791	0.65	T	0.22591	-1.0212	10	0.02654	T	1	-9.9092	14.0723	0.64868	0.0:0.0:0.0:1.0	.	362	O15067	PUR4_HUMAN	Q	362	ENSP00000313490:L362Q	ENSP00000313490:L362Q	L	+	2	0	PFAS	8101859	1.000000	0.71417	0.978000	0.43139	0.518000	0.34316	6.997000	0.76270	2.219000	0.72066	0.459000	0.35465	CTG	PFAS	-	pfam_AIR_synth_N_dom,superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.537	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2		0	76	0	T			8161134	1			no_errors	ENST00000314666	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.990	A	A	8161134	T	A	8161134	3	1	130	1	0	0	0	0	1	0	0	0	11793	1580	55	5	1119	5	PFAS	17	8161134	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	584010	8161134	73034076	184	33465											
UNC119	9094	genome.wustl.edu	37	chr17	26875695	26875695	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaagtcgatcttgtaGatattctcctcaggggagca	11	11	10	9	1	3	2	1	1	2	1	5	4	3	3	1	2	1	2	1	2	3	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:26875695G>T	ENST00000335765.4	-	2	359	c.249C>A	c.(247-249)atC>atA	p.I83I	UNC119_ENST00000484980.1_5'UTR|UNC119_ENST00000301032.4_Silent_p.I83I|UNC119_ENST00000470125.1_5'UTR	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	83					cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					CGATCTTGTAGATATTCTCCT	0.552											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90	90	90					17																	26875695		2203	4300	6503	SO:0001819	synonymous_variant	0			U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"POC7 centriolar protein homolog A (Chlamydomonas)"	604011	"unc119 (C.elegans) homolog"			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.249C>A	17.37:g.26875695G>T		790	A8K8G4|F1T095|O95126	Silent	SNP	pfam_GMP_PDE_delta,superfamily_Ig_E-set	p.I83	ENST00000335765.4	37	c.249	CCDS11233.1	17																																																																																			UNC119	-	pfam_GMP_PDE_delta,superfamily_Ig_E-set	ENSG00000109103		0.552	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC119	HGNC	protein_coding	OTTHUMT00000255842.2	-	0	60	0	G			26875695	-1	tier1	-	no_errors	ENST00000335765	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.885	T	T	26875695	G	T	26875695	2	4	130	1	0	0	0	0	0	0	0	1	17031	932	33	3		3	UNC119	17	26875695	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	18714561	26875695	54319515	185	33466											
ATAD5	79915	genome.wustl.edu	37	chr17	29161257	29161257	+	Frame_Shift_Del	DEL	T	T	-																															agggaagactagagacagggTttttgctccaccaaaaccta																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:29161257delT	ENST00000321990.4	+	2	536	c.158delT	c.(157-159)gttfs	p.V53fs	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	53					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)				AGAGACAGGGTTTTTGCTCCA	0.368																																																	0													85	90	88					17																	29161257		2203	4300	6503	SO:0001589	frameshift_variant	0				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.158delT	17.37:g.29161257delT	ENSP00000313171:p.Val53fs		Q05DH0|Q69YR6|Q9H9I1	Frame_Shift_Del	DEL	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F54fs	ENST00000321990.4	37	c.158	CCDS11260.1	17																																																																																			ATAD5	-	NULL	ENSG00000176208		0.368	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2		0	53	0	T	NM_024857		29161257	1	tier1		no_errors	ENST00000321990	ensembl	human	known	74_37	frame_shift_del	8.57	32	3	DEL	0.997	-	-	29161257	T	-	29161257	7	5	130	1	0	1	0	1	0	0	0	0	1077	1725	60	0	164	0	ATAD5	17	29161257	Frame_Shift_Del	DEL	T	TCGA-LN-A8I0-01A-11D-A36J-09	2285562	29161257	52033953	186	33467											
ACACA	31	genome.wustl.edu	37	chr17	35581952	35581952	+	Silent	SNP	A	A	T	1	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	aattgatgtccatacatgtcAatagctgataggaagataga	16	11	9	5	0	1	4	1	2	0	2	2	5	2	5	1	1	2	1	1	1	7	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:35581952A>T	ENST00000394406.2	-	27	3514	c.3324T>A	c.(3322-3324)atT>atA	p.I1108I	ACACA_ENST00000335166.5_Silent_p.I1030I|ACACA_ENST00000360679.3_Silent_p.I1050I|ACACA_ENST00000353139.5_Silent_p.I1145I	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1108					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)	CATACATGTCAATAGCTGATA	0.378																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													118	108	111					17																	35581952		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3324T>A	17.37:g.35581952A>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.I1145	ENST00000394406.2	37	c.3435	CCDS11317.1	17																																																																																			ACACA	-	pfam_AcCoA_COase_cen	ENSG00000132142		0.378	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0	70	0	A	NM_198836		35581952	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	silent	6.45	58	4	SNP	1.000	T	T	35581952	A	T	35581952	2	4	130	1	0	0	0	0	0	0	0	1	106	126	5	5		5	ACACA	17	35581952	Silent	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	6420695	35581952	45613258	187	33468											
TTC25	83538	genome.wustl.edu	37	chr17	40092767	40092767	+	RNA	DEL	T	T	-																															agaacaaaggggacctctccTtcttaagcaagcaggctgag																								rs543001676	byFrequency	TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:40092767delT	ENST00000591658.1	+	0	507							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GGACCTCTCCTTCTTAAGCAA	0.547																																																	0													61	61	61					17																	40092767		1929	4119	6048			0			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"Tetratricopeptide (TTC) repeat domain containing"	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40092767delT			Q6NX40|Q6PJ04|Q9H0K5	RNA	DEL	-	NULL	ENST00000591658.1	37	NULL		17																																																																																			TTC25	-	-	ENSG00000204815		0.547	TTC25-001	KNOWN	basic	processed_transcript	TTC25	HGNC	processed_transcript	OTTHUMT00000449237.1		0	43	0	T	NM_031421		40092767	1	tier1		no_errors	ENST00000377540	ensembl	human	known	74_37	rna	11.76	15	2	DEL	0.999	-	-	40092767	T	-	40092767	6	5	130	0	1	1	0	1	0	0	0	0	16742	1609	56	0		0	TTC25	17	40092767	RNA	DEL	T	TCGA-LN-A8I0-01A-11D-A36J-09	4510815	40092767	41102443	188	33469											
LRRC37A	9884	genome.wustl.edu	37	chr17	44408828	44408828	+	Missense_Mutation	SNP	T	T	A	0	1	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	aaacacacaactgcaagaaaTgcctttgaagaaaatgattt	19	9	6	7	0	0	4	0	2	0	2	0	4	0	4	1	0	4	1	1	0	7	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:44408828T>A	ENST00000320254.5	+	9	4188	c.4185T>A	c.(4183-4185)aaT>aaA	p.N1395K	LRRC37A_ENST00000496930.1_Missense_Mutation_p.N433K|ARL17B_ENST00000570618.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.N1395K|ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575960.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1395						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)		CTGCAAGAAATGCCTTTGAAG	0.383																																																	0													18	12	14					17																	44408828		1955	3323	5278	SO:0001583	missense	0			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.4185T>A	17.37:g.44408828T>A	ENSP00000326324:p.Asn1395Lys		Q68DY2|Q8IWC7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N1395K	ENST00000320254.5	37	c.4185	CCDS11504.2	17	.	.	.	.	.	.	.	.	.	.	t	7.795	0.712447	0.15306	.	.	ENSG00000176681	ENST00000496930;ENST00000393466;ENST00000393465;ENST00000320254	T;T;T	0.59224	1.51;0.29;0.28	2.15	-1.77	0.07982	.	.	.	.	.	T	0.59555	0.2202	L	0.50333	1.59	0.09310	N	1	B;P;D	0.57899	0.092;0.588;0.981	B;B;D	0.65140	0.035;0.032;0.932	T	0.49437	-0.8940	9	0.40728	T	0.16	.	2.1219	0.03728	0.2511:0.3344:0.0:0.4145	.	433;515;1395	E9PP10;Q5YKG5;A6NMS7	.;.;L37A1_HUMAN	K	433;1395;1395;1395	ENSP00000437021:N433K;ENSP00000377108:N1395K;ENSP00000326324:N1395K	ENSP00000326324:N1395K	N	+	3	2	LRRC37A	41764589	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.032000	0.13732	-0.495000	0.06659	0.347000	0.21830	AAT	LRRC37A	-	NULL	ENSG00000176681		0.383	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC37A	HGNC	protein_coding	OTTHUMT00000313519.3	-	0	92	0	T	NM_014834		44408828	1	tier1	-	no_errors	ENST00000320254	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.000	A	A	44408828	T	A	44408828	3	1	130	1	0	0	0	0	1	0	0	0	9026	1461	51	5	4219	5	LRRC37A	17	44408828	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	4316061	44408828	36786382	189	33470											
BCAS3	54828	genome.wustl.edu	37	chr17	59067400	59067400	+	Silent	SNP	C	C	T	0	0	0	1	1	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	actctccggggtacttcccaCgttttccccatcaaccctta	7	12	5	17	2	2	0	1	0	1	0	5	0	4	0	5	2	2	2	5	2	3	5	rs200886855		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:59067400C>T	ENST00000390652.5	+	15	1321	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	BCAS3_ENST00000588874.1_Silent_p.H201H|BCAS3_ENST00000408905.3_Silent_p.H430H|BCAS3_ENST00000588462.1_Silent_p.H430H|BCAS3_ENST00000585744.1_Silent_p.H201H|BCAS3_ENST00000589222.1_Silent_p.H430H|BCAS3_ENST00000407086.3_Silent_p.H430H	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)			GTACTTCCCACGTTTTCCCCA	0.483																																																	0								C	,	0,3898		0,0,1949	107	106	106		1290,1290	-7.8	0.7	17		106	2,8278		0,2,4138	no	coding-synonymous,coding-synonymous	BCAS3	NM_001099432.1,NM_017679.3	,	0,2,6087	TT,TC,CC		0.0242,0.0,0.0164	,	430/929,430/914	59067400	2,12176	1949	4140	6089	SO:0001819	synonymous_variant	0			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.1290C>T	17.37:g.59067400C>T				Silent	SNP	pfam_BCAS3,pfam_WD40_repeat	p.H430	ENST00000390652.5	37	c.1290	CCDS45749.1	17																																																																																			BCAS3	-	NULL	ENSG00000141376		0.483	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	HGNC	protein_coding	OTTHUMT00000449578.1		0	90	0	C	NM_017679		59067400	1			no_errors	ENST00000390652	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.918	T	T	59067400	C	T	59067400	2	4	130	1	0	0	0	0	0	0	0	1	1353	535	19	1		1	BCAS3	17	59067400	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	14658572	59067400	22127810	190	33471											
MED13	9969	genome.wustl.edu	37	chr17	60129928	60129928	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggtttttcatctttttcaTaaggctttacaaaccacttg	10	18	5	8	0	3	0	2	0	1	0	3	0	3	0	1	2	2	2	1	2	4	9			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:60129928T>C	ENST00000397786.2	-	3	516	c.440A>G	c.(439-441)tAt>tGt	p.Y147C		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	147					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						ATCTTTTTCATAAGGCTTTAC	0.328																																																	0													128	124	125					17																	60129928		1805	4080	5885	SO:0001583	missense	0			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.440A>G	17.37:g.60129928T>C	ENSP00000380888:p.Tyr147Cys		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.Y147C	ENST00000397786.2	37	c.440	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476889	0.63849	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.78595	-1.19	5.53	5.53	0.82687	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	D	0.84110	0.5400	L	0.45422	1.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84963	0.0878	10	0.54805	T	0.06	-4.4312	15.9388	0.79736	0.0:0.0:0.0:1.0	.	147	Q9UHV7	MED13_HUMAN	C	147;146	ENSP00000380888:Y147C	ENSP00000262436:Y146C	Y	-	2	0	MED13	57484710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	2.229000	0.72834	0.533000	0.62120	TAT	MED13	-	pfam_Mediator_Med13_N_met/fun	ENSG00000108510		0.328	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	-	0	81	0	T	NM_005121		60129928	-1	tier1	-	no_errors	ENST00000397786	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	C	C	60129928	T	C	60129928	3	2	130	1	0	0	0	0	1	0	0	0	9468	1406	49	4	6196	4	MED13	17	60129928	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	1062528	60129928	21065282	191	33472											
FTSJ3	11325	genome.wustl.edu	37	chr17	61899154	61899155	+	IGR	INS	-	-	CTC																															agtggtaccagcagtggattINSctcctcctcctcctcctctt																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:61899154_61899155insCTC	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_In_Frame_Ins_p.508_509insE	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGCAGTGGATTCTCCTCCTCCT	0.54																																																	0																																										SO:0001628	intergenic_variant	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899161_61899163dupCTC			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	In_Frame_Ins	INS	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.508in_frame_insE	ENST00000578681.1	37	c.1525_1524	CCDS32704.1	17																																																																																			FTSJ3	-	NULL	ENSG00000108592		0.54	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444368.1		0	32	0	-	NM_007372		61899155	-1	tier1		no_errors	ENST00000427159	ensembl	human	known	74_37	in_frame_ins	19.05	17	4	INS	1.000:0.886	CTC	CTC	61899155	-	CTC	61899154	6	5	130	0	1	1	1	0	0	0	0	0	6113	1783	62	0		0	FTSJ3	17	61899154	IGR	INS	-	TCGA-LN-A8I0-01A-11D-A36J-09	1769226	61899154	19296056	192	33473											
QRICH2	84074	genome.wustl.edu	37	chr17	74287108	74287108	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacccacccatctgtgccaGcaggaactggatcttctcca	9	8	8	16	0	3	0	0	0	3	0	4	2	3	2	4	2	3	2	4	2	1	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:74287108G>A	ENST00000262765.5	-	4	3381	c.3202C>T	c.(3202-3204)Ctg>Ttg	p.L1068L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1068										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						ATCTGTGCCAGCAGGAACTGG	0.542																																																	0													83	79	80					17																	74287108		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3202C>T	17.37:g.74287108G>A			A2RRE1|Q96LM3	Silent	SNP	NULL	p.L1068	ENST00000262765.5	37	c.3202	CCDS32741.1	17																																																																																			QRICH2	-	NULL	ENSG00000129646		0.542	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1		0	73	0	G	NM_032134		74287108	-1			no_errors	ENST00000262765	ensembl	human	known	74_37	silent	6.25	44	3	SNP	0.009	A	A	74287108	G	A	74287108	2	1	130	1	0	0	0	0	0	0	0	1	12925	962	34	3		3	QRICH2	17	74287108	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	12387954	74287108	6908102	193	33474											
RNF213	57674	genome.wustl.edu	37	chr17	78247183	78247183	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccgaggagccctgttccaaaGcctcctggaccgtccaagaa	10	6	10	15	2	0	1	0	0	0	1	3	4	3	3	7	2	2	1	7	2	3	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:78247183G>T	ENST00000582970.1	+	3	384	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	RNF213_ENST00000319921.4_Missense_Mutation_p.A81S|RNF213_ENST00000508628.2_Missense_Mutation_p.A81S|RNF213_ENST00000456466.1_Missense_Mutation_p.A81S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	81					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)			CTGTTCCAAAGCCTCCTGGAC	0.622																																																	0													65	61	63					17																	78247183		2203	4299	6502	SO:0001583	missense	0			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.241G>T	17.37:g.78247183G>T	ENSP00000464087:p.Ala81Ser		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.A81S	ENST00000582970.1	37	c.241	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	7.074	0.568955	0.13560	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T	0.30981	1.51	3.07	0.995	0.19838	.	.	.	.	.	T	0.19565	0.0470	L	0.40543	1.245	0.09310	N	0.999995	B	0.33612	0.419	B	0.30646	0.118	T	0.17806	-1.0357	9	0.23302	T	0.38	.	5.0456	0.14483	0.2875:0.0:0.7125:0.0	.	81	Q9HCF4-2	.	S	81	ENSP00000425956:A81S	ENSP00000324392:A81S	A	+	1	0	RNF213	75861778	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.853000	0.04303	0.299000	0.22661	0.650000	0.86243	GCC	RNF213	-	NULL	ENSG00000173821		0.622	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	46	0	G	NM_020914		78247183	1			no_errors	ENST00000582970	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.000	T	T	78247183	G	T	78247183	3	4	130	1	0	0	0	0	1	0	0	0	13522	971	34	3	247	3	RNF213	17	78247183	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	3960075	78247183	2948027	194	33475											
TMEM105	284186	genome.wustl.edu	37	chr17	79287626	79287626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatctcacagaggcagCtgggctcagcacagtccccc	8	8	9	16	0	4	1	3	0	2	1	6	1	5	1	2	2	2	4	2	2	0	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr17:79287626C>T	ENST00000332900.1	-	3	764	c.215G>A	c.(214-216)aGc>aAc	p.S72N		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	72						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			ACAGAGGCAGCTGGGCTCAGC	0.662																																																	0													43	53	49					17																	79287626		2202	4299	6501	SO:0001583	missense	0			AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.215G>A	17.37:g.79287626C>T	ENSP00000329795:p.Ser72Asn			Missense_Mutation	SNP	NULL	p.S72N	ENST00000332900.1	37	c.215	CCDS11781.1	17	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277296	0.23307	.	.	ENSG00000185332	ENST00000332900	T	0.54071	0.59	2.24	-2.82	0.05787	.	.	.	.	.	T	0.25457	0.0619	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.11329	0.006	T	0.13124	-1.0521	9	0.87932	D	0	.	3.388	0.07278	0.0:0.3486:0.2115:0.4399	.	72	Q8N8V8	TM105_HUMAN	N	72	ENSP00000329795:S72N	ENSP00000329795:S72N	S	-	2	0	TMEM105	76902221	0.000000	0.05858	0.000000	0.03702	0.360000	0.29518	-0.508000	0.06344	-0.682000	0.05197	-0.339000	0.08088	AGC	TMEM105	-	NULL	ENSG00000185332		0.662	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM105	HGNC	protein_coding	OTTHUMT00000439607.1	-	0	107	0	C	NM_178520		79287626	-1	tier1	-	no_errors	ENST00000332900	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.000	T	T	79287626	C	T	79287626	3	4	130	1	0	0	0	0	1	0	0	0	16066	797	28	3	178	3	TMEM105	17	79287626	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	1040443	79287626	1907584	195	33476											
USP14	9097	genome.wustl.edu	37	chr18	203115	203115	+	Silent	SNP	G	G	T	0	0	1	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	cagtccaagatcagccggctGcctgcttacttgaccattca	9	10	8	14	1	2	2	2	1	0	1	3	2	3	2	4	1	4	2	4	1	2	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr18:203115G>T	ENST00000261601.7	+	12	1051	c.960G>T	c.(958-960)ctG>ctT	p.L320L	USP14_ENST00000383589.2_Silent_p.L274L|USP14_ENST00000400266.3_Silent_p.L309L|USP14_ENST00000582707.1_Silent_p.L285L	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	320	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)				TCAGCCGGCTGCCTGCTTACT	0.338																																																	0													76	79	78					18																	203115		2203	4300	6503	SO:0001819	synonymous_variant	0			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.960G>T	18.37:g.203115G>T			J3QRZ5|Q53XY5	Silent	SNP	pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.L320	ENST00000261601.7	37	c.960	CCDS32780.1	18																																																																																			USP14	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000101557		0.338	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP14	HGNC	protein_coding	OTTHUMT00000440305.3	-	0	60	0	G	NM_005151		203115	1	tier1	-	no_errors	ENST00000261601	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.849	T	T	203115	G	T	203115	2	4	130	1	0	0	0	0	0	0	0	1	17094	1306	46	3		3	USP14	18	203115	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09		203115	77874133	196	33477											
L3MBTL4	91133	genome.wustl.edu	37	chr18	6215816	6215816	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtattctgtccaggaaaaaTtttctggattgggataacct	11	14	10	6	0	2	0	0	0	2	0	3	3	3	3	2	4	1	1	2	4	4	6	rs139480207	byFrequency	TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr18:6215816T>A	ENST00000284898.6	-	11	1003	c.803A>T	c.(802-804)aAt>aTt	p.N268I	L3MBTL4_ENST00000400104.3_Missense_Mutation_p.N268I|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.N268I|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.N268I|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.N81I	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	268					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CCAGGAAAAATTTTCTGGATT	0.338																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0								T	ILE/ASN	1,4403		0,1,2201	41	43	42		803	5.3	0.9	18	dbSNP_134	42	2,8598		0,2,4298	no	missense	L3MBTL4	NM_173464.3	149	0,3,6499	AA,AT,TT		0.0233,0.0227,0.0231	benign	268/624	6215816	3,13001	2202	4300	6502	SO:0001583	missense	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.803A>T	18.37:g.6215816T>A	ENSP00000284898:p.Asn268Ile		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.N268I	ENST00000284898.6	37	c.803	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151882	0.38021	2.27E-4	2.33E-4	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.3	5.3	0.74995	.	0.507275	0.18702	N	0.133553	T	0.35799	0.0944	N	0.22421	0.69	0.25328	N	0.989057	B;B	0.31009	0.303;0.143	B;B	0.39771	0.309;0.105	T	0.34775	-0.9815	10	0.39692	T	0.17	.	11.903	0.52694	0.0:0.0:0.0:1.0	.	268;268	Q8NA19;F8W9S8	LMBL4_HUMAN;.	I	268;268;268;81;268	ENSP00000382976:N268I;ENSP00000318543:N268I;ENSP00000284898:N268I;ENSP00000444774:N81I;ENSP00000382975:N268I	ENSP00000284898:N268I	N	-	2	0	L3MBTL4	6205816	1.000000	0.71417	0.942000	0.38095	0.668000	0.39293	2.612000	0.46343	2.134000	0.65973	0.533000	0.62120	AAT	L3MBTL4	-	NULL	ENSG00000154655		0.338	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0	79	0	T	NM_173464		6215816	-1	tier1	rs139480207	no_errors	ENST00000284898	ensembl	human	known	74_37	missense	16.18	57	11	SNP	0.983	A	A	6215816	T	A	6215816	3	1	130	1	0	0	0	0	1	0	0	0	8622	1493	52	5	1108	5	L3MBTL4	18	6215816	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	6012701	6215816	71861432	197	33478											
LAMA3	3909	genome.wustl.edu	37	chr18	21393048	21393048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtgcttgtgacccagctgGtaccatcaactccaatttgg	9	11	9	12	0	1	1	1	1	0	0	2	1	2	1	3	2	4	3	3	2	3	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr18:21393048G>A	ENST00000313654.9	+	14	2010	c.1769G>A	c.(1768-1770)gGt>gAt	p.G590D	LAMA3_ENST00000399516.3_Missense_Mutation_p.G590D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	590	Domain V.|Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GACCCAGCTGGTACCATCAAC	0.343																																																	0													93	88	90					18																	21393048		1828	4071	5899	SO:0001583	missense	0			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.1769G>A	18.37:g.21393048G>A	ENSP00000324532:p.Gly590Asp		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G590D	ENST00000313654.9	37	c.1769	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920015	0.52653	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.58358	0.34;0.34	5.11	5.11	0.69529	EGF-like, laminin (2);	.	.	.	.	D	0.83344	0.5234	H	0.98646	4.29	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.981;0.99	D	0.89798	0.3973	9	0.66056	D	0.02	.	17.0835	0.86604	0.0:0.0:1.0:0.0	.	590;590	Q6VU67;Q16787	.;LAMA3_HUMAN	D	590;590;588	ENSP00000324532:G590D;ENSP00000382432:G590D	ENSP00000324532:G590D	G	+	2	0	LAMA3	19647046	1.000000	0.71417	0.323000	0.25347	0.304000	0.27724	5.712000	0.68407	2.519000	0.84933	0.655000	0.94253	GGT	LAMA3	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000053747		0.343	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3		0	30	0	G	NM_000227, NM_198129		21393048	1			no_errors	ENST00000313654	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.959	A	A	21393048	G	A	21393048	3	1	130	1	0	0	0	0	1	0	0	0	8635	1261	44	3	1823	3	LAMA3	18	21393048	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	15177232	21393048	56684200	198	33479											
DSC2	1824	genome.wustl.edu	37	chr18	28662348	28662348	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaacagtaactcgtaaGatttccacatcaactgtatt	13	13	4	11	1	2	1	2	0	0	1	5	1	4	1	2	0	3	3	2	0	5	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr18:28662348G>T	ENST00000280904.6	-	9	1562	c.1119C>A	c.(1117-1119)atC>atA	p.I373I	DSC2_ENST00000251081.6_Silent_p.I373I	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	373	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TAACTCGTAAGATTTCCACAT	0.313																																																	0													92	87	89					18																	28662348		2201	4299	6500	SO:0001819	synonymous_variant	0			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1119C>A	18.37:g.28662348G>T				Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.I373	ENST00000280904.6	37	c.1119	CCDS11892.1	18																																																																																			DSC2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000134755		0.313	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC2	HGNC	protein_coding	OTTHUMT00000254943.1	-	0	101	0	G	NM_004949		28662348	-1	tier1	-	no_errors	ENST00000280904	ensembl	human	known	74_37	silent	14.00	86	14	SNP	0.473	T	T	28662348	G	T	28662348	2	4	130	1	0	0	0	0	0	0	0	1	4780	932	33	3		3	DSC2	18	28662348	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	7269300	28662348	49414900	199	33480											
PIK3C3	5289	genome.wustl.edu	37	chr18	39647366	39647366	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttataggttcaggataaattCcgcttagacctgtcggatga	11	13	10	7	2	1	2	1	1	0	1	3	4	2	4	2	3	0	2	2	3	5	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr18:39647366C>T	ENST00000262039.4	+	24	2624	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	PIK3C3_ENST00000588156.1_Silent_p.F70F|PIK3C3_ENST00000587328.1_Silent_p.F24F|PIK3C3_ENST00000593098.1_Silent_p.F331F|PIK3C3_ENST00000398870.3_Silent_p.F783F	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	846	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)	p.F846F(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGGATAAATTCCGCTTAGACC	0.408										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)												1	Substitution - coding silent(1)	large_intestine(1)											136	121	126					18																	39647366		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2538C>T	18.37:g.39647366C>T			Q15134	Silent	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.F846	ENST00000262039.4	37	c.2538	CCDS11920.1	18																																																																																			PIK3C3	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	ENSG00000078142		0.408	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1		0	107	0	C	NM_002647		39647366	1			no_errors	ENST00000262039	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.999	T	T	39647366	C	T	39647366	2	4	130	1	0	0	0	0	0	0	0	1	11951	854	30	3		3	PIK3C3	18	39647366	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	10985018	39647366	38429882	200	33481											
ZNF407	55628	genome.wustl.edu	37	chr18	72632586	72632586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacgtcccggtggagttccGgaaccatttgaaggaacagc	11	7	12	11	3	0	1	0	1	0	0	2	4	2	4	3	4	4	1	3	4	4	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr18:72632586G>A	ENST00000299687.5	+	7	5366	c.5366G>A	c.(5365-5367)cGg>cAg	p.R1789Q	ZNF407_ENST00000577538.1_Missense_Mutation_p.R1789Q	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1789					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)		GTGGAGTTCCGGAACCATTTG	0.483																																																	0													74	73	74					18																	72632586		1954	4145	6099	SO:0001583	missense	0			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.5366G>A	18.37:g.72632586G>A	ENSP00000299687:p.Arg1789Gln		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.R1789Q	ENST00000299687.5	37	c.5366	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242632	0.79912	.	.	ENSG00000215421	ENST00000299687	T	0.10477	2.87	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);	0.000000	0.53938	D	0.000057	T	0.25044	0.0608	N	0.26042	0.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00989	-1.1489	10	0.59425	D	0.04	.	18.1016	0.89507	0.0:0.0:1.0:0.0	.	1789;1789	Q9C0G0-2;Q9C0G0	.;ZN407_HUMAN	Q	1789	ENSP00000299687:R1789Q	ENSP00000299687:R1789Q	R	+	2	0	ZNF407	70761574	1.000000	0.71417	0.269000	0.24586	0.072000	0.16883	9.722000	0.98770	-2.218000	0.00730	-0.302000	0.09304	CGG	ZNF407	-	smart_Znf_C2H2-like	ENSG00000215421		0.483	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1		0	72	0	G	NM_017757		72632586	1			no_errors	ENST00000299687	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.008	A	A	72632586	G	A	72632586	3	1	130	1	0	0	0	0	1	0	0	0	17935	1116	39	1	5502	1	ZNF407	18	72632586	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	32985220	72632586	5444662	201	33482											
ADNP2	22850	genome.wustl.edu	37	chr18	77896383	77896383	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagcagaacagagggaccTattgtcaaggacgaggctct	14	6	13	8	1	2	2	1	0	1	2	2	6	2	4	1	3	2	2	1	3	4	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr18:77896383T>C	ENST00000262198.4	+	4	3542	c.3087T>C	c.(3085-3087)ccT>ccC	p.P1029P		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1029					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CAGAGGGACCTATTGTCAAGG	0.418																																																	0													49	54	53					18																	77896383		2201	4299	6500	SO:0001819	synonymous_variant	0			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3087T>C	18.37:g.77896383T>C			A8K951|O94943|Q9H9P3	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.P1029	ENST00000262198.4	37	c.3087	CCDS32853.1	18																																																																																			ADNP2	-	NULL	ENSG00000101544		0.418	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	-	0	121	0	T	NM_014913		77896383	1	tier1	-	no_errors	ENST00000262198	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.000	C	C	77896383	T	C	77896383	2	2	130	1	0	0	0	0	0	0	0	1	324	1509	53	4		4	ADNP2	18	77896383	Silent	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	5263797	77896383	180865	202	33483											
GADD45B	4616	genome.wustl.edu	37	chr19	2476577	2476577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttggtggccgctcagcGccaggatcgcctcacagtgg	5	9	14	13	3	2	0	2	0	0	0	3	1	2	1	3	4	1	2	3	4	0	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr19:2476577G>A	ENST00000215631.4	+	2	327	c.95G>A	c.(94-96)cGc>cAc	p.R32H	GADD45B_ENST00000587345.1_Missense_Mutation_p.R32H	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	32					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)		GCCGCTCAGCGCCAGGATCGC	0.662																																																	0													66	61	63					19																	2476577		2203	4300	6503	SO:0001583	missense	0			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.95G>A	19.37:g.2476577G>A	ENSP00000215631:p.Arg32His		A8KAM2|O75960|Q17R46	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.R32H	ENST00000215631.4	37	c.95	CCDS32868.1	19	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767925	0.90020	.	.	ENSG00000099860	ENST00000215631	T	0.59224	0.28	5.08	2.86	0.33363	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.245701	0.39759	N	0.001276	T	0.63745	0.2537	M	0.79475	2.455	0.42677	D	0.99353	D	0.64830	0.994	P	0.50860	0.652	T	0.64253	-0.6451	10	0.45353	T	0.12	.	9.8067	0.40797	0.0:0.1528:0.6887:0.1585	.	32	O75293	GA45B_HUMAN	H	32	ENSP00000215631:R32H	ENSP00000215631:R32H	R	+	2	0	GADD45B	2427577	0.999000	0.42202	0.998000	0.56505	0.992000	0.81027	2.930000	0.48924	0.504000	0.28082	0.491000	0.48974	CGC	GADD45B	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	ENSG00000099860		0.662	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADD45B	HGNC	protein_coding	OTTHUMT00000451337.1	-	0	62	0	G	NM_015675		2476577	1	tier1	-	no_errors	ENST00000215631	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A	A	2476577	G	A	2476577	3	1	130	1	0	0	0	0	1	0	0	0	6206	1087	38	1	101	1	GADD45B	19	2476577	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09		2476577	56652406	203	33484											
CILP2	148113	genome.wustl.edu	37	chr19	19654602	19654602	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgtgggcctctgtccCgacacccgctgccccagcct	4	8	11	18	2	1	0	0	0	1	0	2	2	2	1	6	2	2	1	6	2	0	0	rs149322116		TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr19:19654602C>A	ENST00000291495.5	+	8	1333	c.1248C>A	c.(1246-1248)ccC>ccA	p.P416P	CILP2_ENST00000586018.1_Silent_p.P422P	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	416						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						GCCTCTGTCCCGACACCCGCT	0.687																																																	0													58	65	63					19																	19654602		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1248C>A	19.37:g.19654602C>A			Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.P416	ENST00000291495.5	37	c.1248	CCDS12405.1	19																																																																																			CILP2	-	NULL	ENSG00000160161		0.687	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3		0	72	0	C	NM_153221		19654602	1			no_errors	ENST00000291495	ensembl	human	known	74_37	silent	5.45	51	3	SNP	0.010	A	A	19654602	C	A	19654602	2	1	130	1	0	0	0	0	0	0	0	1	3437	639	23	2		2	CILP2	19	19654602	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	17178025	19654602	39474381	204	33485											
ZNF99	7652	genome.wustl.edu	37	chr19	22941058	22941058	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attatcttatgtttcataagGgttgaggaattgttaaaagc	13	16	9	3	0	2	1	1	1	1	0	2	2	2	2	0	2	1	3	0	2	6	7			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr19:22941058G>T	ENST00000596209.1	-	4	1743	c.1653C>A	c.(1651-1653)acC>acA	p.T551T	ZNF99_ENST00000397104.3_Silent_p.T460T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTTCATAAGGGTTGAGGAAT	0.333																																																	0													41	43	42					19																	22941058		2048	4208	6256	SO:0001819	synonymous_variant	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1653C>A	19.37:g.22941058G>T			M0R335	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T460	ENST00000596209.1	37	c.1380	CCDS59369.1	19																																																																																			ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.333	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0	87	0	G	XM_065124		22941058	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	silent	25.45	41	14	SNP	0.000	T	T	22941058	G	T	22941058	2	4	130	1	0	0	0	0	0	0	0	1	18252	1219	43	3		3	ZNF99	19	22941058	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	3286456	22941058	36187925	205	33486											
PAPL	390928	genome.wustl.edu	37	chr19	39591447	39591447	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttctccattatggccGccacttggtacagaggcagt	7	14	9	11	1	2	1	0	0	2	1	3	1	2	1	3	3	1	2	3	3	2	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr19:39591447G>C	ENST00000331256.5	+	7	1035	c.761G>C	c.(760-762)cGc>cCc	p.R254P	PAPL_ENST00000594229.1_Missense_Mutation_p.A213P	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		254						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										CATTATGGCCGCCACTTGGTA	0.617																																																	0													43	47	46					19																	39591447		2203	4300	6503	SO:0001583	missense	0																														ENST00000331256.5:c.761G>C	19.37:g.39591447G>C	ENSP00000327557:p.Arg254Pro		B2RN68	Missense_Mutation	SNP	pfam_PEstase_dom,superfamily_Purple_acid_Pase-like_N	p.R254P	ENST00000331256.5	37	c.761	CCDS33018.1	19	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068210	0.36470	.	.	ENSG00000183760	ENST00000331256	D	0.85339	-1.97	5.63	0.995	0.19838	Metallophosphoesterase domain (1);	0.529794	0.20619	N	0.088814	T	0.69780	0.3149	N	0.25332	0.735	0.32735	N	0.508476	B	0.16166	0.016	B	0.18871	0.023	T	0.59096	-0.7518	10	0.36615	T	0.2	-8.8629	1.5511	0.02575	0.2392:0.1444:0.467:0.1494	.	254	Q6ZNF0	PAPL_HUMAN	P	254	ENSP00000327557:R254P	ENSP00000327557:R254P	R	+	2	0	AC011443.1	44283287	0.584000	0.26766	0.973000	0.42090	0.973000	0.67179	0.113000	0.15499	0.036000	0.15547	0.655000	0.94253	CGC	PAPL	-	pfam_PEstase_dom	ENSG00000183760		0.617	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPL	Uniprot_gn	protein_coding	OTTHUMT00000463810.1		0	36	0	G			39591447	1			no_errors	ENST00000331256	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.996	C	C	39591447	G	C	39591447	3	2	130	1	0	0	0	0	1	0	0	0	11466	1087	38	5	783	5	PAPL	19	39591447	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	16650389	39591447	19537536	206	33487											
SPTBN4	57731	genome.wustl.edu	37	chr19	41060531	41060531	+	Missense_Mutation	SNP	T	T	A	0	1	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	gcgccagtgccgggcgctgcTggagatggggcacccggaca	6	4	18	13	4	0	1	0	0	0	1	0	3	0	2	3	5	2	3	3	5	0	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr19:41060531T>A	ENST00000352632.3	+	24	5149	c.5063T>A	c.(5062-5064)cTg>cAg	p.L1688Q	SPTBN4_ENST00000338932.3_Missense_Mutation_p.L1688Q|SPTBN4_ENST00000595535.1_Missense_Mutation_p.L1688Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L1688Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.L431Q|SPTBN4_ENST00000392023.1_Missense_Mutation_p.L364Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1688					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)			CGGGCGCTGCTGGAGATGGGG	0.652																																																	0													14	14	14					19																	41060531		2194	4290	6484	SO:0001583	missense	0			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.5063T>A	19.37:g.41060531T>A	ENSP00000263373:p.Leu1688Gln		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L1688Q	ENST00000352632.3	37	c.5063	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309493	0.81247	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	4.62	4.62	0.57501	.	0.000000	0.48767	D	0.000165	T	0.54565	0.1866	L	0.46157	1.445	0.40943	D	0.984489	D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;0.998	D;D;P;D;D	0.85130	0.912;0.978;0.904;0.997;0.96	T	0.51284	-0.8725	10	0.25751	T	0.34	.	13.0253	0.58812	0.0:0.0:0.0:1.0	.	431;431;364;1688;1688	Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;SPTN4_HUMAN;.	Q	1688;1688;1688;431;364	ENSP00000263373:L1688Q;ENSP00000340345:L1688Q;ENSP00000375879:L431Q;ENSP00000375877:L364Q	ENSP00000340345:L1688Q	L	+	2	0	SPTBN4	45752371	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.684000	0.68197	1.724000	0.51502	0.260000	0.18958	CTG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.652	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0	58	0	T			41060531	1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	41060531	T	A	41060531	3	1	130	1	0	0	0	0	1	0	0	0	15168	1580	55	5	5153	5	SPTBN4	19	41060531	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	1469084	41060531	18068452	207	33488											
RTN2	6253	genome.wustl.edu	37	chr19	45997462	45997462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaattctaattggtccGtgctatcgaggcactgtccc	7	12	10	12	3	1	1	0	1	1	0	4	2	3	1	3	2	1	2	3	2	3	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr19:45997462G>A	ENST00000245923.4	-	4	1011	c.776C>T	c.(775-777)aCg>aTg	p.T259M	RTN2_ENST00000344680.4_Missense_Mutation_p.T259M|RTN2_ENST00000590526.1_De_novo_Start_InFrame|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	259					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)		TAATTGGTCCGTGCTATCGAG	0.537																																																	0													150	132	138					19																	45997462		2203	4300	6503	SO:0001583	missense	0			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.776C>T	19.37:g.45997462G>A	ENSP00000245923:p.Thr259Met		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.T259M	ENST00000245923.4	37	c.776	CCDS12665.1	19	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491913	0.44352	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.52057	0.83;0.68	5.63	3.34	0.38264	.	0.128010	0.36002	N	0.002856	T	0.25382	0.0617	N	0.17082	0.46	0.80722	D	1	P;B	0.34780	0.468;0.27	B;B	0.24269	0.052;0.016	T	0.09271	-1.0682	10	0.45353	T	0.12	-5.6737	8.3739	0.32432	0.0:0.1706:0.6525:0.1768	.	259;259	O75298-2;O75298	.;RTN2_HUMAN	M	259	ENSP00000345127:T259M;ENSP00000245923:T259M	ENSP00000245923:T259M	T	-	2	0	RTN2	50689302	0.148000	0.22702	0.987000	0.45799	0.931000	0.56810	0.125000	0.15749	1.349000	0.45751	0.563000	0.77884	ACG	RTN2	-	NULL	ENSG00000125744		0.537	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1	-	0	75	0	G	NM_005619		45997462	-1	tier1	-	no_errors	ENST00000245923	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.938	A	A	45997462	G	A	45997462	3	1	130	1	0	0	0	0	1	0	0	0	13771	1145	40	1	893	1	RTN2	19	45997462	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	4936931	45997462	13131521	208	33489											
GYS1	2997	genome.wustl.edu	37	chr19	49488805	49488805	+	Frame_Shift_Del	DEL	T	T	-																															agcgcagtgggctgccgcccTttccatgcagtatcggtggt																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr19:49488805delT	ENST00000323798.3	-	5	932	c.736delA	c.(736-738)aggfs	p.R246fs	GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Frame_Shift_Del_p.R166fs|GYS1_ENST00000263276.6_Frame_Shift_Del_p.R182fs|GYS1_ENST00000457974.1_5'Flank|GYS1_ENST00000541188.1_Frame_Shift_Del_p.R166fs	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	246					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)		GCTGCCGCCCTTTCCATGCAG	0.597																																																	0													134	100	111					19																	49488805		2203	4300	6503	SO:0001589	frameshift_variant	0				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.736delA	19.37:g.49488805delT	ENSP00000317904:p.Arg246fs		Q9BTT9	Frame_Shift_Del	DEL	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.R246fs	ENST00000323798.3	37	c.736	CCDS12747.1	19																																																																																			GYS1	-	pfam_Glycogen_synth,pfam_Starch_synth_cat_dom	ENSG00000104812		0.597	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1		0	42	0	T	NM_002103		49488805	-1	tier1		no_errors	ENST00000323798	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-	-	49488805	T	-	49488805	7	5	130	1	0	1	0	1	0	0	0	0	6939	1608	56	0	1525	0	GYS1	19	49488805	Frame_Shift_Del	DEL	T	TCGA-LN-A8I0-01A-11D-A36J-09	3491343	49488805	9640178	209	33490											
HRC	3270	genome.wustl.edu	37	chr19	49656964	49656964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctggtcccggctgccatGatgggtgcctttctctccct	2	14	10	15	1	1	1	0	1	1	0	5	1	4	1	5	3	2	1	5	3	0	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr19:49656964G>A	ENST00000252825.4	-	1	1717	c.1531C>T	c.(1531-1533)Cat>Tat	p.H511Y	HRC_ENST00000595625.1_Missense_Mutation_p.H511Y	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	511					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)		CGGCTGCCATGATGGGTGCCT	0.557																																					Melanoma(37;75 1097 24567 25669 30645)												0													100	79	87					19																	49656964		2203	4300	6503	SO:0001583	missense	0				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.1531C>T	19.37:g.49656964G>A	ENSP00000252825:p.His511Tyr		Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.H511Y	ENST00000252825.4	37	c.1531	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	G	7.242	0.601405	0.13939	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.52754	0.65	3.29	0.649	0.17806	.	.	.	.	.	T	0.39759	0.1090	L	0.38175	1.15	0.09310	N	1	D	0.53885	0.963	P	0.46796	0.527	T	0.24548	-1.0157	9	0.59425	D	0.04	.	7.012	0.24867	0.0:0.0:0.4857:0.5143	.	511	P23327	SRCH_HUMAN	Y	511;210	ENSP00000252825:H511Y	ENSP00000252825:H511Y	H	-	1	0	HRC	54348776	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.519000	0.22862	0.610000	0.30035	0.462000	0.41574	CAT	HRC	-	NULL	ENSG00000130528		0.557	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	-	0	22	0	G	NM_002152		49656964	-1	tier1	-	no_errors	ENST00000252825	ensembl	human	known	74_37	missense	48.15	14	13	SNP	0.000	A	A	49656964	G	A	49656964	3	1	130	1	0	0	0	0	1	0	0	0	7379	1290	45	3	592	3	HRC	19	49656964	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	168159	49656964	9472019	210	33491											
KLK10	5655	genome.wustl.edu	37	chr19	51518085	51518085	+	Missense_Mutation	SNP	A	A	G	1	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	gcgtatgactttattgatccAggacatgtatttgcagatct	10	15	9	7	1	1	3	0	2	1	1	2	4	2	4	1	1	1	3	1	1	3	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr19:51518085A>G	ENST00000309958.3	-	6	1020	c.802T>C	c.(802-804)Tgg>Cgg	p.W268R	KLK10_ENST00000391805.1_Missense_Mutation_p.W268R|CTB-147C22.9_ENST00000594512.1_RNA|KLK10_ENST00000358789.3_Missense_Mutation_p.W268R|CTC-518B2.12_ENST00000596286.1_RNA	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	268	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)		TTATTGATCCAGGACATGTAT	0.537																																																	0													145	132	136					19																	51518085		2203	4300	6503	SO:0001583	missense	0			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.802T>C	19.37:g.51518085A>G	ENSP00000311746:p.Trp268Arg		A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.W268R	ENST00000309958.3	37	c.802	CCDS12817.1	19	.	.	.	.	.	.	.	.	.	.	a	14.69	2.611644	0.46631	.	.	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.99121	-5.45;-5.45;-5.45	4.66	4.66	0.58398	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.99536	0.9834	H	0.98111	4.15	0.46113	D	0.998871	D	0.89917	1.0	D	0.97110	1.0	D	0.98001	1.0360	9	0.87932	D	0	.	12.3436	0.55107	1.0:0.0:0.0:0.0	.	268	O43240	KLK10_HUMAN	R	268	ENSP00000375681:W268R;ENSP00000311746:W268R;ENSP00000351640:W268R	ENSP00000311746:W268R	W	-	1	0	KLK10	56209897	1.000000	0.71417	0.866000	0.34008	0.040000	0.13550	8.563000	0.90723	1.879000	0.54435	0.260000	0.18958	TGG	KLK10	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000129451		0.537	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK10	HGNC	protein_coding	OTTHUMT00000464337.2		0	81	0	A	NM_002776		51518085	-1			no_errors	ENST00000309958	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	G	G	51518085	A	G	51518085	3	3	130	1	0	0	0	0	1	0	0	0	8425	188	7	4	32	4	KLK10	19	51518085	Missense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	1861121	51518085	7610898	211	33492											
KLK11	11012	genome.wustl.edu	37	chr19	51530744	51530744	+	Frame_Shift_Del	DEL	C	C	-																															agacctctgcccgatgacttCcagtcccgcagccacctcaa																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr19:51530744delC	ENST00000594768.1	-	1	215	c.30delG	c.(28-30)tggfs	p.W10fs	KLK11_ENST00000594458.1_5'Flank|KLK11_ENST00000319720.7_Intron|KLK11_ENST00000600362.1_5'Flank|KLK11_ENST00000391804.3_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK11_ENST00000453757.3_5'Flank	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	10						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CCGATGACTTCCAGTCCCGCA	0.607																																																	0													92	93	93					19																	51530744		2203	4300	6503	SO:0001589	frameshift_variant	0			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"Kallikreins", "Serine peptidases / Serine peptidases"	6359	protein-coding gene	gene with protein product		604434	"kallikrein 11"	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.30delG	19.37:g.51530744delC	ENSP00000473047:p.Trp10fs		O75837|Q0WXX5|Q8IXD7|Q9NS65	Frame_Shift_Del	DEL	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.W10fs	ENST00000594768.1	37	c.30	CCDS12818.1	19																																																																																			KLK11	-	NULL	ENSG00000167757		0.607	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	HGNC	protein_coding	OTTHUMT00000464314.2		0	102	0	C	NM_006853		51530744	-1	tier1		no_errors	ENST00000594768	ensembl	human	known	74_37	frame_shift_del	22.22	42	12	DEL	0.055	-	-	51530744	C	-	51530744	7	5	130	1	0	1	0	1	0	0	0	0	8426	856	30	0	917	0	KLK11	19	51530744	Frame_Shift_Del	DEL	C	TCGA-LN-A8I0-01A-11D-A36J-09	12659	51530744	7598239	212	33493											
COX6B2	125965	genome.wustl.edu	37	chr19	55865104	55865104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtcagattttgccggcGaaaatcccgttcttgatctg	8	12	11	10	3	3	2	1	1	2	1	4	3	4	2	2	2	1	2	2	2	2	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr19:55865104G>T	ENST00000593184.1	-	4	331	c.252C>A	c.(250-252)ttC>ttA	p.F84L	COX6B2_ENST00000326529.4_Missense_Mutation_p.F84L|COX6B2_ENST00000589467.1_Missense_Mutation_p.F84L|COX6B2_ENST00000588572.2_Missense_Mutation_p.F84L|COX6B2_ENST00000590900.1_Missense_Mutation_p.F84L|CTD-2105E13.6_ENST00000591954.3_3'UTR|COX6B2_ENST00000589879.1_5'Flank			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	84						mitochondrial crista (GO:0030061)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TTTTGCCGGCGAAAATCCCGT	0.622																																					NSCLC(77;1057 1395 2148 36198 42783)												0													40	41	41					19																	55865104		1884	4106	5990	SO:0001583	missense	0			AK057427	CCDS42630.1	19q13.42	2011-07-04						"Mitochondrial respiratory chain complex / Complex IV"	24380	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit VIb, testes specific", "cancer/testis antigen 59"					12874793	Standard	NM_144613		Approved	COXVIB2, FLJ32865, CT59	uc002qkn.3	Q6YFQ2		ENST00000593184.1:c.252C>A	19.37:g.55865104G>T	ENSP00000467266:p.Phe84Leu		Q7L1R4|Q96DL5	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B,pirsf_Cyt_c_oxidase_su6B	p.F84L	ENST00000593184.1	37	c.252	CCDS42630.1	19	.	.	.	.	.	.	.	.	.	.	g	14.70	2.614607	0.46631	.	.	ENSG00000160471	ENST00000326529	D	0.86097	-2.07	3.85	-1.21	0.09524	.	.	.	.	.	T	0.81143	0.4761	.	.	.	0.09310	N	0.999999	P	0.50710	0.938	P	0.49226	0.603	T	0.70733	-0.4791	8	0.87932	D	0	-10.3955	0.8276	0.01124	0.2949:0.1603:0.3813:0.1635	.	84	Q6YFQ2	CX6B2_HUMAN	L	84	ENSP00000320672:F84L	ENSP00000320672:F84L	F	-	3	2	COX6B2	60556916	1.000000	0.71417	0.030000	0.17652	0.155000	0.21991	1.079000	0.30766	-0.187000	0.10516	0.561000	0.74099	TTC	COX6B2	-	superfamily_Cyt_c_oxidase_su6B,pirsf_Cyt_c_oxidase_su6B	ENSG00000160471		0.622	COX6B2-003	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	COX6B2	HGNC	protein_coding	OTTHUMT00000452965.2		0	81	0	G	NM_144613		55865104	-1			no_errors	ENST00000326529	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.019	T	T	55865104	G	T	55865104	3	4	130	1	0	0	0	0	1	0	0	0	3784	1049	37	2	18	2	COX6B2	19	55865104	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	4334360	55865104	3263879	213	33494											
CDS2	8760	genome.wustl.edu	37	chr20	5107779	5107779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcccatgagccggttgCgccacccgaggacaaggtag	8	5	16	12	3	0	1	0	1	0	0	0	3	0	2	4	5	2	2	4	5	2	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr20:5107779C>T	ENST00000460006.1	+	1	348	c.41C>T	c.(40-42)gCg>gTg	p.A14V	CDS2_ENST00000379062.4_Missense_Mutation_p.R5C|PCNA_ENST00000379160.3_5'Flank	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	14					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GAGCCGGTTGCGCCACCCGAG	0.726																																																	0													10	9	9					20																	5107779		1867	3595	5462	SO:0001583	missense	0			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.41C>T	20.37:g.5107779C>T	ENSP00000419879:p.Ala14Val		B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	pfam_PC_trans,pirsf_PC_Trfase_euk	p.A14V	ENST00000460006.1	37	c.41	CCDS13088.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.94|14.94	2.685141|2.685141	0.47991|0.47991	.|.	.|.	ENSG00000101290|ENSG00000101290	ENST00000460006|ENST00000450570;ENST00000379062	T|T	0.46063|0.47869	0.88|0.83	4.99|4.99	1.6|1.6	0.23607|0.23607	.|.	0.433316|.	0.23260|.	N|.	0.050151|.	T|T	0.33556|0.33556	0.0867|0.0867	L|L	0.29908|0.29908	0.895|0.895	0.18873|0.18873	N|N	0.999986|0.999986	B|B	0.25486|0.33940	0.127|0.433	B|B	0.14023|0.34931	0.01|0.192	T|T	0.26503|0.26503	-1.0101|-1.0101	10|9	0.28530|0.66056	T|D	0.3|0.02	.|.	6.1184|6.1184	0.20139|0.20139	0.0:0.53:0.3637:0.1063|0.0:0.53:0.3637:0.1063	.|.	14|5	O95674|E7EQ83	CDS2_HUMAN|.	V|C	14|5	ENSP00000419879:A14V|ENSP00000403205:R5C	ENSP00000419879:A14V|ENSP00000368352:R5C	A|R	+|+	2|1	0|0	CDS2|CDS2	5055779|5055779	0.634000|0.634000	0.27190|0.27190	0.205000|0.205000	0.23548|0.23548	0.827000|0.827000	0.46813|0.46813	0.923000|0.923000	0.28757|0.28757	0.704000|0.704000	0.31869|0.31869	0.579000|0.579000	0.79373|0.79373	GCG|CGC	CDS2	-	pirsf_PC_Trfase_euk	ENSG00000101290		0.726	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS2	HGNC	protein_coding	OTTHUMT00000077858.2	-	0	22	0	C			5107779	1	tier1	-	no_errors	ENST00000460006	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.020	T	T	5107779	C	T	5107779	3	4	130	1	0	0	0	0	1	0	0	0	3185	768	27	1	43	1	CDS2	20	5107779	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09		5107779	57917741	214	33495											
MKKS	8195	genome.wustl.edu	37	chr20	10388353	10388353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgttaactgcaggacatGcagtgccgtctgacacgtga	10	9	13	9	2	1	2	0	2	1	0	1	4	1	3	1	1	4	3	1	1	1	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr20:10388353G>T	ENST00000347364.3	-	5	1945	c.1183C>A	c.(1183-1185)Cat>Aat	p.H395N	MKKS_ENST00000399054.2_Missense_Mutation_p.H395N	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	395					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						TGCAGGACATGCAGTGCCGTC	0.418																																					Melanoma(79;1979 2212 6640)												0													110	80	90					20																	10388353		2203	4300	6503	SO:0001583	missense	0			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.1183C>A	20.37:g.10388353G>T	ENSP00000246062:p.His395Asn		A8K7B0|D3DW18	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	p.H395N	ENST00000347364.3	37	c.1183	CCDS13111.1	20	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834672	0.71373	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.76968	-1.06;-1.06	6.04	5.08	0.68730	.	0.157901	0.56097	N	0.000029	T	0.80193	0.4578	M	0.61703	1.905	0.46260	D	0.998958	P	0.43826	0.818	P	0.48304	0.573	T	0.77376	-0.2611	10	0.22706	T	0.39	-15.9463	16.2669	0.82588	0.0:0.0:0.8663:0.1337	.	395	Q9NPJ1	MKKS_HUMAN	N	395	ENSP00000246062:H395N;ENSP00000382008:H395N	ENSP00000246062:H395N	H	-	1	0	MKKS	10336353	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.786000	0.62425	1.524000	0.49035	0.563000	0.77884	CAT	MKKS	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000125863		0.418	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKKS	HGNC	protein_coding	OTTHUMT00000077991.3	-	0	50	0	G			10388353	-1	tier1	-	no_errors	ENST00000347364	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	10388353	G	T	10388353	3	4	130	1	0	0	0	0	1	0	0	0	9638	1319	46	3	537	3	MKKS	20	10388353	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	5280574	10388353	52637167	215	33496											
DLGAP4	22839	genome.wustl.edu	37	chr20	35154319	35154319	+	Silent	SNP	G	G	T	0	0	1	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	ttctgggacctgctacagctGtccatcgaggatatcagcat	9	11	10	11	1	2	0	1	0	1	0	4	3	3	2	2	2	4	3	2	2	2	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr20:35154319G>T	ENST00000373907.2	+	11	2869	c.2670G>T	c.(2668-2670)ctG>ctT	p.L890L	RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.L887L|DLGAP4_ENST00000340491.4_Silent_p.L351L|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Silent_p.L890L|DLGAP4_ENST00000373913.3_Silent_p.L887L|RP5-977B1.7_ENST00000433238.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	890					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)				TGCTACAGCTGTCCATCGAGG	0.602																																																	0													86	81	83					20																	35154319		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2670G>T	20.37:g.35154319G>T			E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	pfam_GKAP	p.L890	ENST00000373907.2	37	c.2670		20																																																																																			DLGAP4	-	pfam_GKAP	ENSG00000080845		0.602	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2		0	58	0	G	NM_014902		35154319	1			no_errors	ENST00000339266	ensembl	human	known	74_37	silent	6.98	40	3	SNP	1.000	T	T	35154319	G	T	35154319	2	4	130	1	0	0	0	0	0	0	0	1	4576	1364	48	3		3	DLGAP4	20	35154319	Silent	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	24765966	35154319	27871201	216	33497											
GCFC1	94104	genome.wustl.edu	37	chr21	34120808	34120808	+	Splice_Site	SNP	A	A	G	1	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	aatagtgacagaagccactcAcctcaagaggagtccaagtg	15	6	10	10	0	2	3	2	1	0	2	3	4	3	4	3	1	1	0	3	1	5	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr21:34120808A>G	ENST00000331923.4	-	11	2113		c.e11+1		PAXBP1_ENST00000290178.4_Splice_Site	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1						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)										GAAGCCACTCACCTCAAGAGG	0.383																																																	0													65	65	65					21																	34120808		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1923+1T>C	21.37:g.34120808A>G			D3DSE7|Q96DU8|Q9NYQ0	Splice_Site	SNP	-	e11+2	ENST00000331923.4	37	c.1923+2	CCDS13619.1	21	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833079	0.71258	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	.	.	.	6.16	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9501	0.52950	0.9321:0.0:0.0679:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCFC1	33042679	1.000000	0.71417	0.830000	0.32933	0.965000	0.64279	7.144000	0.77357	1.148000	0.42385	0.528000	0.53228	.	PAXBP1	-	-	ENSG00000159086		0.383	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAXBP1	HGNC	protein_coding	OTTHUMT00000139563.1	-	0	47	0	A	NM_013329	Intron	34120808	-1	tier1	-	no_errors	ENST00000331923	ensembl	human	known	74_37	splice_site	8.89	41	4	SNP	0.982	G	G	34120808	A	G	34120808	5	3	130	1	0	0	0	0	0	0	1	0	6314	173	6	4	978	4	GCFC1	21	34120808	Splice_Site	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09		34120808	14009087	217	33498											
BRWD1	54014	genome.wustl.edu	37	chr21	40571465	40571465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacttccttaagacttttCggttatttccagctctggct	7	16	6	12	1	1	1	0	0	1	1	4	1	3	1	2	2	1	3	2	2	2	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr21:40571465C>T	ENST00000333229.2	-	40	5204	c.4877G>A	c.(4876-4878)cGa>cAa	p.R1626Q	BRWD1_ENST00000342449.3_Missense_Mutation_p.R1626Q|BRWD1_ENST00000380800.3_Missense_Mutation_p.R1626Q	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1626					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)				TAAGACTTTTCGGTTATTTCC	0.403											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Melanoma(170;988 1986 4794 16843 39731)												0													87	90	89					21																	40571465		2203	4300	6503	SO:0001583	missense	0			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.4877G>A	21.37:g.40571465C>T	ENSP00000330753:p.Arg1626Gln	894	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R1626Q	ENST00000333229.2	37	c.4877	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490339	0.84962	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.60548	0.18;0.46;0.54	5.38	5.38	0.77491	.	0.663319	0.13500	N	0.383298	T	0.74374	0.3708	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.77557	0.99;0.886	T	0.73550	-0.3947	10	0.62326	D	0.03	-5.4253	12.4962	0.55929	0.0:0.9239:0.0:0.0761	.	1626;1626	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	Q	1626	ENSP00000330753:R1626Q;ENSP00000344333:R1626Q;ENSP00000370178:R1626Q	ENSP00000330753:R1626Q	R	-	2	0	BRWD1	39493335	0.795000	0.28851	0.978000	0.43139	0.961000	0.63080	2.690000	0.47001	2.524000	0.85096	0.563000	0.77884	CGA	BRWD1	-	NULL	ENSG00000185658		0.403	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3		0	64	0	C	NM_033656		40571465	-1			no_errors	ENST00000333229	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.986	T	T	40571465	C	T	40571465	3	4	130	1	0	0	0	0	1	0	0	0	1529	884	31	1	2336	1	BRWD1	21	40571465	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	6450657	40571465	7558430	218	33499											
COL18A1	80781	genome.wustl.edu	37	chr21	46893894	46893894	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaggcgatgactcagatgGggtgagtgacatctggggca	10	7	18	6	1	2	4	1	3	1	1	2	6	2	5	0	6	0	1	0	6	1	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr21:46893894G>T	ENST00000359759.4	+	3	2003	c.1982G>T	c.(1981-1983)gGg>gTg	p.G661V	COL18A1_ENST00000355480.5_Splice_Site_p.G426V|COL18A1_ENST00000400337.2_Splice_Site_p.G246V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	661	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)		GACTCAGATGGGGTGAGTGAC	0.592																																																	0													24	26	25					21																	46893894		2018	4158	6176	SO:0001630	splice_region_variant	0				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.1983+1G>T	21.37:g.46893894G>T			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.G661V	ENST00000359759.4	37	c.1982		21	.	.	.	.	.	.	.	.	.	.	G	7.520	0.656546	0.14580	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.39787	1.06;1.06;1.06	2.93	2.93	0.34026	.	1.716240	0.03739	N	0.254638	T	0.38026	0.1025	L	0.32530	0.975	0.46564	D	0.999108	B;P;P	0.36535	0.421;0.557;0.557	B;B;B	0.38683	0.145;0.279;0.279	T	0.32134	-0.9918	10	0.39692	T	0.17	.	9.6143	0.39681	0.0:0.0:1.0:0.0	.	661;426;246	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	V	246;246;426;661;661	ENSP00000383191:G246V;ENSP00000347665:G426V;ENSP00000352798:G661V	ENSP00000347665:G426V	G	+	2	0	COL18A1	45718322	0.980000	0.34600	0.898000	0.35279	0.371000	0.29859	1.637000	0.37155	1.963000	0.57068	0.186000	0.17326	GGG	COL18A1	-	NULL	ENSG00000182871		0.592	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	-	0	76	0	G		Missense_Mutation	46893894	1	tier1	-	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.896	T	T	46893894	G	T	46893894	5	4	130	1	0	0	0	0	0	0	1	0	3682	1246	43	3	2106	3	COL18A1	21	46893894	Splice_Site	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	6322429	46893894	1236001	219	33500											
PCNT	5116	genome.wustl.edu	37	chr21	47766842	47766842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagcaggcagcagcacgaGctggagctcctcagggagca	11	3	15	12	1	1	1	1	0	0	1	2	4	2	3	1	3	6	7	1	3	0	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr21:47766842G>T	ENST00000359568.5	+	5	1013	c.906G>T	c.(904-906)gaG>gaT	p.E302D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	302	Glu-rich.				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)					AGCAGCACGAGCTGGAGCTCC	0.652																																																	0													34	26	28					21																	47766842		2201	4299	6500	SO:0001583	missense	0			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.906G>T	21.37:g.47766842G>T	ENSP00000352572:p.Glu302Asp		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.E302D	ENST00000359568.5	37	c.906	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842459	0.71488	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.31769	1.48	5.35	1.46	0.22682	.	0.000000	0.32608	N	0.005877	T	0.48607	0.1509	M	0.70275	2.135	0.22017	N	0.999413	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.29971	-0.9994	10	0.62326	D	0.03	.	8.1396	0.31076	0.3953:0.0:0.6047:0.0	.	184;302	O95613-2;O95613	.;PCNT_HUMAN	D	302;289	ENSP00000352572:E302D	ENSP00000338675:E289D	E	+	3	2	PCNT	46591270	1.000000	0.71417	0.988000	0.46212	0.783000	0.44284	0.756000	0.26419	0.232000	0.21100	0.563000	0.77884	GAG	PCNT	-	NULL	ENSG00000160299		0.652	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1		0	21	0	G	NM_006031		47766842	1			no_errors	ENST00000359568	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	47766842	G	T	47766842	3	4	130	1	0	0	0	0	1	0	0	0	11629	962	34	3	924	3	PCNT	21	47766842	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	872948	47766842	363053	220	33501											
SFI1	9814	genome.wustl.edu	37	chr22	32009191	32009191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tgtggttctgggccttctcgCtgcaggcaaaggtaattggg	6	12	15	8	1	2	0	0	0	2	0	3	0	2	0	1	5	1	5	1	5	2	4			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr22:32009191C>A	ENST00000400288.2	+	25	2659	c.2554C>A	c.(2554-2556)Ctg>Atg	p.L852M	SFI1_ENST00000400289.1_Missense_Mutation_p.L770M|SFI1_ENST00000443011.1_Missense_Mutation_p.L699M|SFI1_ENST00000432498.1_Missense_Mutation_p.L821M|SFI1_ENST00000443326.1_Missense_Mutation_p.L770M|SFI1_ENST00000540643.1_Missense_Mutation_p.L797M|SFI1_ENST00000414585.1_Missense_Mutation_p.L699M	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	852					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						GGCCTTCTCGCTGCAGGCAAA	0.637																																																	0													50	59	56					22																	32009191		2115	4240	6355	SO:0001583	missense	0			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.2554C>A	22.37:g.32009191C>A	ENSP00000383145:p.Leu852Met		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	superfamily_Cyclin-like	p.L852M	ENST00000400288.2	37	c.2554	CCDS43004.1	22	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589224	0.46110	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.60299	0.87;0.8;0.62;1.27;0.69;0.62;0.97;0.2	5.62	4.61	0.57282	.	0.000000	0.64402	D	0.000001	T	0.56093	0.1962	N	0.08118	0	0.22842	N	0.998666	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;0.998	T	0.53272	-0.8462	10	0.87932	D	0	.	11.4343	0.50060	0.0:0.9161:0.0:0.0839	.	797;758;770;821;852	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	M	821;797;770;699;699;770;852;435	ENSP00000402679:L821M;ENSP00000443025:L797M;ENSP00000416469:L770M;ENSP00000397148:L699M;ENSP00000401199:L699M;ENSP00000383146:L770M;ENSP00000383145:L852M;ENSP00000398871:L435M	ENSP00000383145:L852M	L	+	1	2	SFI1	30339191	0.554000	0.26522	0.035000	0.18076	0.378000	0.30076	1.440000	0.35024	1.385000	0.46445	0.563000	0.77884	CTG	SFI1	-	NULL	ENSG00000198089		0.637	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3	-	0	65	0	C	NM_014775		32009191	1	tier1	-	no_errors	ENST00000400288	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.306	A	A	32009191	C	A	32009191	3	1	130	1	0	0	0	0	1	0	0	0	14201	796	28	3	2648	3	SFI1	22	32009191	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09		32009191	19295375	221	33502											
TOM1	10043	genome.wustl.edu	37	chr22	35723300	35723300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagctggagatggtgagtGggaacgtgagggtgatgtcg	8	9	21	3	2	0	5	0	4	0	1	1	7	0	6	0	4	2	1	0	4	1	0			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr22:35723300G>T	ENST00000449058.2	+	7	810	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	TOM1_ENST00000425375.1_Missense_Mutation_p.G184W|TOM1_ENST00000411850.1_Missense_Mutation_p.G229W|TOM1_ENST00000436462.2_Missense_Mutation_p.G191W|TOM1_ENST00000447733.1_Missense_Mutation_p.G196W|TOM1_ENST00000382034.5_Missense_Mutation_p.G162W	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	229	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						GATGGTGAGTGGGAACGTGAG	0.617																																																	0													188	143	158					22																	35723300		2203	4300	6503	SO:0001583	missense	0			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.685G>T	22.37:g.35723300G>T	ENSP00000394466:p.Gly229Trp		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.G229W	ENST00000449058.2	37	c.685	CCDS13913.1	22	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015752	0.75161	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000451197;ENST00000436462;ENST00000382034	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.39	5.39	0.77823	GAT (2);	0.151170	0.64402	D	0.000013	T	0.73799	0.3633	M	0.84846	2.72	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.987;1.0;1.0;1.0;0.999	T	0.78347	-0.2239	10	0.87932	D	0	-8.1605	19.165	0.93553	0.0:0.0:1.0:0.0	.	184;191;238;229;229	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	W	196;223;229;229;184;238;191;162	ENSP00000398876:G196W;ENSP00000393714:G223W;ENSP00000394466:G229W;ENSP00000413697:G229W;ENSP00000394924:G184W;ENSP00000402556:G191W;ENSP00000371465:G162W	ENSP00000371465:G162W	G	+	1	0	TOM1	34053300	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.524000	0.60552	2.519000	0.84933	0.655000	0.94253	GGG	TOM1	-	pfam_GAT,pirsf_TOM1,pfscan_GAT	ENSG00000100284		0.617	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	HGNC	protein_coding	OTTHUMT00000320641.1		0	47	0	G	NM_005488		35723300	1			no_errors	ENST00000411850	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.990	T	T	35723300	G	T	35723300	3	4	130	1	0	0	0	0	1	0	0	0	16398	1348	47	3	711	3	TOM1	22	35723300	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	3714109	35723300	15581266	222	33503											
SH3BP1	23616	genome.wustl.edu	37	chr22	38039752	38039754	+	In_Frame_Del	DEL	AGG	AGG	-																															caacaaggtggagacgctgaAggaggaggaggaggagctga																										TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr22:38039752_38039754delAGG	ENST00000357436.4	+	7	888_890	c.575_577delAGG	c.(574-579)aaggag>aag	p.E197del	SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_In_Frame_Del_p.E197del|SH3BP1_ENST00000336738.5_In_Frame_Del_p.E197del|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_In_Frame_Del_p.E133del	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	197	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GAGACGCTGAAGGAGGAGGAGGA	0.606											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0										1,4261		0,1,2130						5.1	1			112	1,8253		0,1,4126	no	coding	SH3BP1	NM_018957.3		0,2,6256	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12514				SO:0001651	inframe_deletion	0				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.575_577delAGG	22.37:g.38039761_38039763delAGG	ENSP00000350018:p.Glu197del	875	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	In_Frame_Del	DEL	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.E196in_frame_del	ENST00000357436.4	37	c.575_577	CCDS13952.2	22																																																																																			SH3BP1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000100092		0.606	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000075884.4		0	62	0	AGG	NM_018957		38039754	1	tier1		no_errors	ENST00000357436	ensembl	human	known	74_37	in_frame_del	9.30	39	4	DEL	1.000:1.000:1.000	-	-	38039754	AGG	-	38039752	7	5	130	1	0	1	0	1	0	0	0	0	14289	72	3	0	601	0	SH3BP1	22	38039752	In_Frame_Del	DEL	AGG	TCGA-LN-A8I0-01A-11D-A36J-09	2316452	38039752	13264814	223	33504											
TSPO	706	genome.wustl.edu	37	chr22	43558932	43558932	+	Missense_Mutation	SNP	A	A	G	1	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	cctggctggccttcacgaccAcactcaactactgcgtatgg	8	9	9	15	2	2	0	2	0	0	0	2	1	2	0	3	3	3	2	3	3	3	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr22:43558932A>G	ENST00000396265.3	+	3	339	c.164A>G	c.(163-165)cAc>cGc	p.H55R	TSPO_ENST00000583777.1_Missense_Mutation_p.T45A|TSPO_ENST00000329563.4_Missense_Mutation_p.T149A|TSPO_ENST00000337554.3_Missense_Mutation_p.T149A			B1AH88	TSPOB_HUMAN	translocator protein (18kDa)	55					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)				CTTCACGACCACACTCAACTA	0.701																																																	0													32	26	28					22																	43558932		2200	4297	6497	SO:0001583	missense	0			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.164A>G	22.37:g.43558932A>G	ENSP00000379563:p.His55Arg		Q13849|Q6IAZ7	Missense_Mutation	SNP	pfam_TspO_MBR,pirsf_TspO_MBR	p.T149A	ENST00000396265.3	37	c.445		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.007|0.007	-1.975325|-1.975325	0.00452|0.00452	.|.	.|.	ENSG00000100300|ENSG00000100300	ENST00000396265|ENST00000337554;ENST00000329563	T|T;T	0.52295|0.38560	0.67|1.13;1.13	4.68|4.68	-7.42|-7.42	0.01388|0.01388	.|.	.|1.272910	.|0.04986	.|N	.|0.466474	T|T	0.15305|0.15305	0.0369|0.0369	N|N	0.02103|0.02103	-0.685|-0.685	0.09310|0.09310	N|N	1|1	B|B	0.10296|0.02656	0.003|0.0	B|B	0.06405|0.06405	0.002|0.002	T|T	0.39418|0.39418	-0.9615|-0.9615	9|10	0.87932|0.08599	D|T	0|0.76	-19.2769|-19.2769	12.8288|12.8288	0.57735|0.57735	0.1637:0.2126:0.6238:0.0|0.1637:0.2126:0.6238:0.0	.|.	55|149	B1AH88|P30536	TSPOB_HUMAN|TSPOA_HUMAN	R|A	55|149	ENSP00000379563:H55R|ENSP00000338004:T149A;ENSP00000328973:T149A	ENSP00000379563:H55R|ENSP00000328973:T149A	H|T	+|+	2|1	0|0	TSPO|TSPO	41888876|41888876	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.058000|0.058000	0.15608|0.15608	-0.684000|-0.684000	0.05173|0.05173	-2.116000|-2.116000	0.00830|0.00830	-0.256000|-0.256000	0.11100|0.11100	CAC|ACA	TSPO	-	pfam_TspO_MBR,pirsf_TspO_MBR	ENSG00000100300		0.701	TSPO-201	KNOWN	basic	protein_coding	TSPO	HGNC	protein_coding		-	0	60	0	A	NM_007311		43558932	1	tier1	-	no_errors	ENST00000329563	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.000	G	G	43558932	A	G	43558932	3	3	130	1	0	0	0	0	1	0	0	0	16703	159	6	4	455	4	TSPO	22	43558932	Missense_Mutation	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09	5519180	43558932	7745634	224	33505											
ALG12	79087	genome.wustl.edu	37	chr22	50303571	50303571	+	Missense_Mutation	SNP	T	T	C	0	1	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	ggatccctgccgggacggcgTggcgaagggctctgactaca	7	6	16	12	4	1	1	0	1	1	0	2	4	2	3	2	5	2	1	2	5	2	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr22:50303571T>C	ENST00000330817.6	-	5	908	c.635A>G	c.(634-636)cAc>cGc	p.H212R		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	212					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGACGGCGTGGCGAAGGGC	0.532																																																	0													71	71	71					22																	50303571		2203	4300	6503	SO:0001583	missense	0			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.635A>G	22.37:g.50303571T>C	ENSP00000333813:p.His212Arg		A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.H212R	ENST00000330817.6	37	c.635	CCDS14081.1	22	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057908	0.36277	.	.	ENSG00000182858	ENST00000330817	T	0.61510	0.1	4.44	2.22	0.28083	.	0.218956	0.46442	D	0.000284	T	0.58264	0.2110	L	0.58428	1.81	0.35446	D	0.795293	P	0.45240	0.854	P	0.50314	0.637	T	0.61652	-0.7019	10	0.25106	T	0.35	-10.1956	9.5543	0.39328	0.0:0.1093:0.0:0.8907	.	212	Q9BV10	ALG12_HUMAN	R	212	ENSP00000333813:H212R	ENSP00000333813:H212R	H	-	2	0	ALG12	48689575	0.995000	0.38212	0.002000	0.10522	0.005000	0.04900	2.709000	0.47160	0.351000	0.24027	0.529000	0.55759	CAC	ALG12	-	pfam_GPI_mannosylTrfase	ENSG00000182858		0.532	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG12	HGNC	protein_coding	OTTHUMT00000317405.2		0	138	0	T	NM_024105		50303571	-1			no_errors	ENST00000330817	ensembl	human	known	74_37	missense	5.06	74	4	SNP	0.497	C	C	50303571	T	C	50303571	3	2	130	1	0	0	0	0	1	0	0	0	514	1696	59	4	855	4	ALG12	22	50303571	Missense_Mutation	SNP	T	TCGA-LN-A8I0-01A-11D-A36J-09	6744639	50303571	1000995	225	33506											
PLXNB2	23654	genome.wustl.edu	37	chr22	50718132	50718132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttggccttcttctgtaccGcatccaccgggcccttttcc	4	13	7	17	2	2	0	0	0	2	0	4	0	4	0	6	2	1	2	6	2	1	6			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chr22:50718132G>A	ENST00000449103.1	-	27	4456	c.4316C>T	c.(4315-4317)gCg>gTg	p.A1439V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1439V			O15031	PLXB2_HUMAN	plexin B2	1439					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)		CTTCTGTACCGCATCCACCGG	0.617																																																	0													151	171	164					22																	50718132		1996	4140	6136	SO:0001583	missense	0				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.4316C>T	22.37:g.50718132G>A	ENSP00000409171:p.Ala1439Val		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.A1439V	ENST00000449103.1	37	c.4316	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331777	0.60853	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.15139	2.45;2.45	4.17	4.17	0.49024	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.35098	0.0920	L	0.55103	1.725	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.04509	-1.0946	10	0.36615	T	0.2	.	17.0055	0.86392	0.0:0.0:1.0:0.0	.	1439	O15031	PLXB2_HUMAN	V	1439;1439;71	ENSP00000409171:A1439V;ENSP00000352288:A1439V	ENSP00000352288:A1439V	A	-	2	0	PLXNB2	49060259	0.999000	0.42202	0.952000	0.39060	0.168000	0.22595	3.644000	0.54381	2.306000	0.77630	0.462000	0.41574	GCG	PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.617	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0	97	0	G	NM_012401		50718132	-1			no_errors	ENST00000359337	ensembl	human	known	74_37	missense	5.00	55	3	SNP	1.000	A	A	50718132	G	A	50718132	3	1	130	1	0	0	0	0	1	0	0	0	12163	1087	38	1	1244	1	PLXNB2	22	50718132	Missense_Mutation	SNP	G	TCGA-LN-A8I0-01A-11D-A36J-09	414561	50718132	586434	226	33507											
ZFX	7543	genome.wustl.edu	37	chrX	24197367	24197367	+	Silent	SNP	A	A	G	1	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	caagaaactgtttttgtttcAgatgttgtggattcagacat	11	16	9	5	0	2	3	2	0	0	3	2	4	2	4	0	1	1	3	0	1	2	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chrX:24197367A>G	ENST00000379177.1	+	6	553	c.126A>G	c.(124-126)tcA>tcG	p.S42S	ZFX_ENST00000304543.5_Silent_p.S42S|ZFX_ENST00000540034.1_Silent_p.S81S|ZFX_ENST00000338565.3_Silent_p.S42S|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Silent_p.S42S|ZFX_ENST00000539115.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	42					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTTTTGTTTCAGATGTTGTGG	0.348																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0													244	210	221					X																	24197367		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.126A>G	X.37:g.24197367A>G			B9EG97|O43668|Q8WYJ8	Silent	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S81	ENST00000379177.1	37	c.243	CCDS14211.1	X																																																																																			ZFX	-	NULL	ENSG00000005889		0.348	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	-	0	44	0	A	NM_003410		24197367	1	tier1	-	no_errors	ENST00000540034	ensembl	human	known	74_37	silent	10.34	26	3	SNP	1.000	G	G	24197367	A	G	24197367	2	3	130	1	0	0	0	0	0	0	0	1	17709	175	7	4		4	ZFX	23	24197367	Silent	SNP	A	TCGA-LN-A8I0-01A-11D-A36J-09		24197367	131073193	227	33508											
DCAF8L1	139425	genome.wustl.edu	37	chrX	27998247	27998247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctggccaggagctctgtgCcatcgtggctgtacacaacg	8	8	13	12	2	1	0	0	0	1	0	2	1	1	1	2	3	5	4	2	3	2	1			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chrX:27998247C>T	ENST00000441525.1	-	1	1319	c.1205G>A	c.(1204-1206)gGc>gAc	p.G402D		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	402										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GAGCTCTGTGCCATCGTGGCT	0.423																																																	0													98	89	92					X																	27998247		2202	4300	6502	SO:0001583	missense	0				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1205G>A	X.37:g.27998247C>T	ENSP00000405222:p.Gly402Asp		B3KXX1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G402D	ENST00000441525.1	37	c.1205	CCDS35222.1	X	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949111	0.73787	.	.	ENSG00000226372	ENST00000441525	D	0.84730	-1.89	1.08	1.08	0.20341	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	0.92205	0.7528	M	0.92604	3.325	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.90862	0.4739	10	0.66056	D	0.02	-6.2969	7.7157	0.28702	0.0:1.0:0.0:0.0	.	402	A6NGE4	DC8L1_HUMAN	D	402	ENSP00000405222:G402D	ENSP00000405222:G402D	G	-	2	0	DCAF8L1	27908168	1.000000	0.71417	0.979000	0.43373	0.654000	0.38779	2.998000	0.49465	0.825000	0.34637	0.284000	0.19432	GGC	DCAF8L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000226372		0.423	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	HGNC	protein_coding	OTTHUMT00000056150.2	-	0	42	0	C	XM_066690		27998247	-1	tier1	-	no_errors	ENST00000441525	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	27998247	C	T	27998247	3	4	130	1	0	0	0	0	1	0	0	0	4286	739	26	3	601	3	DCAF8L1	23	27998247	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	3800880	27998247	127272313	228	33509											
TRO	7216	genome.wustl.edu	37	chrX	54950123	54950123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actcaggttgctgctgctgtCcaggccctggcagatgacta	7	10	12	12	0	1	2	1	1	0	1	2	2	2	2	2	3	3	5	2	3	1	2			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chrX:54950123C>T	ENST00000173898.7	+	3	1270	c.1158C>T	c.(1156-1158)gtC>gtT	p.V386V	TRO_ENST00000319167.8_Silent_p.V386V|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000375022.4_Silent_p.V386V|TRO_ENST00000484031.1_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	386					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						CTGCTGCTGTCCAGGCCCTGG	0.562																																																	0													38	42	41					X																	54950123		1991	4169	6160	SO:0001819	synonymous_variant	0			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.1158C>T	X.37:g.54950123C>T			B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.V386	ENST00000173898.7	37	c.1158	CCDS43959.1	X																																																																																			TRO	-	NULL	ENSG00000067445		0.562	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	-	0	49	0	C	NM_016157		54950123	1	tier1	-	no_errors	ENST00000173898	ensembl	human	known	74_37	silent	13.33	26	4	SNP	1.000	T	T	54950123	C	T	54950123	2	4	130	1	0	0	0	0	0	0	0	1	16622	842	30	3		3	TRO	23	54950123	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	26951876	54950123	100320437	229	33510											
ZXDB	158586	genome.wustl.edu	37	chrX	57619666	57619666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggagaggccttaccagtgCgcgttttctggctgcaagaa	8	9	13	11	3	1	2	0	0	1	2	1	3	1	2	3	3	3	3	3	3	3	3			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chrX:57619666C>T	ENST00000374888.1	+	1	1398	c.1185C>T	c.(1183-1185)tgC>tgT	p.C395C		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	395	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTTACCAGTGCGCGTTTTCTG	0.542																																																	0													87	80	82					X																	57619666		2203	4297	6500	SO:0001819	synonymous_variant	0			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.1185C>T	X.37:g.57619666C>T			A8K151|Q9UBB3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C395	ENST00000374888.1	37	c.1185	CCDS35313.1	X																																																																																			ZXDB	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198455		0.542	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDB	HGNC	protein_coding	OTTHUMT00000056922.1	-	0	55	0	C	NM_007157		57619666	1	tier1	-	no_errors	ENST00000374888	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.994	T	T	57619666	C	T	57619666	2	4	130	1	0	0	0	0	0	0	0	1	18299	776	27	1		1	ZXDB	23	57619666	Silent	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	2669543	57619666	97650894	230	33511											
TSPAN6	7105	genome.wustl.edu	37	chrX	99888429	99888429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactttgtctgcatctctCtgtggagtacaatcttcaag	8	17	7	9	0	5	0	1	0	4	0	6	1	5	1	0	1	3	2	0	1	4	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chrX:99888429C>A	ENST00000373020.4	-	5	669	c.558G>T	c.(556-558)caG>caT	p.Q186H	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	186					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						CTGCATCTCTCTGTGGAGTAC	0.338																																																	0													79	74	75					X																	99888429		2203	4300	6503	SO:0001583	missense	0			AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"Tetraspanins"	11858	protein-coding gene	gene with protein product		300191	"transmembrane 4 superfamily member 6"	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.558G>T	X.37:g.99888429C>A	ENSP00000362111:p.Gln186His		Q54A42|Q6IAN9	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.Q186H	ENST00000373020.4	37	c.558	CCDS14470.1	X	.	.	.	.	.	.	.	.	.	.	C	5.359	0.251428	0.10130	.	.	ENSG00000000003	ENST00000373020;ENST00000431386	D	0.87029	-2.2	4.96	0.0075	0.14071	Tetraspanin, EC2 domain (1);	0.285058	0.26627	U	0.023337	T	0.73426	0.3585	N	0.24115	0.695	0.18873	N	0.999988	B	0.19935	0.04	B	0.22386	0.039	T	0.56842	-0.7912	9	.	.	.	.	6.2214	0.20683	0.0:0.5023:0.2641:0.2336	.	186	O43657	TSN6_HUMAN	H	186;168	ENSP00000362111:Q186H	.	Q	-	3	2	TSPAN6	99775085	0.871000	0.30034	0.001000	0.08648	0.108000	0.19459	0.955000	0.29188	-0.275000	0.09219	-0.218000	0.12543	CAG	TSPAN6	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000000003		0.338	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN6	HGNC	protein_coding	OTTHUMT00000057483.1	-	0	95	0	C			99888429	-1	tier1	-	no_errors	ENST00000373020	ensembl	human	known	74_37	missense	44.00	28	22	SNP	0.204	A	A	99888429	C	A	99888429	3	1	130	1	0	0	0	0	1	0	0	0	16699	912	32	3	191	3	TSPAN6	23	99888429	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	42268763	99888429	55382131	231	33512											
ENOX2	10495	genome.wustl.edu	37	chrX	129803957	129803957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttttaatttttcagcaaCaatgctgcattcatgatctg	11	16	5	9	0	3	1	2	1	1	0	3	1	3	1	1	0	4	3	1	0	3	5			TCGA-LN-A8I0-01A-11D-A36J-09	TCGA-LN-A8I0-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d0906d6-e09d-4a51-b193-df76f464bf2b	ac64b984-1741-431e-adc0-9141658224a6	g.chrX:129803957C>T	ENST00000370927.1	-	5	784	c.763G>A	c.(763-765)Gtt>Att	p.V255I	ENOX2_ENST00000394363.1_Missense_Mutation_p.V226I|ENOX2_ENST00000338144.3_Missense_Mutation_p.V255I|ENOX2_ENST00000370935.1_Missense_Mutation_p.V226I			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	255					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						TTTTCAGCAACAATGCTGCAT	0.403																																					Ovarian(101;828 1506 2951 9500 35258)												0													150	120	130					X																	129803957		2203	4300	6503	SO:0001583	missense	0			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.763G>A	X.37:g.129803957C>T	ENSP00000359965:p.Val255Ile		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V255I	ENST00000370927.1	37	c.763	CCDS14626.1	X	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050605	0.36181	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.31	5.31	0.75309	.	0.075591	0.56097	D	0.000037	T	0.23054	0.0557	N	0.11201	0.11	0.26525	N	0.974369	B;B	0.15719	0.014;0.004	B;B	0.17722	0.019;0.01	T	0.12192	-1.0557	8	.	.	.	-9.7821	10.8738	0.46899	0.0:0.8152:0.1848:0.0	.	255;283	Q16206;A4QPE1	ENOX2_HUMAN;.	I	226;226;255;226;283;255;226	.	.	V	-	1	0	ENOX2	129631638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.978000	0.49305	2.463000	0.83235	0.600000	0.82982	GTT	ENOX2	-	NULL	ENSG00000165675		0.403	ENOX2-004	KNOWN	basic|CCDS	protein_coding	ENOX2	HGNC	protein_coding	OTTHUMT00000058277.1	-	0	21	0	C	NM_182314		129803957	-1	tier1	-	no_errors	ENST00000338144	ensembl	human	known	74_37	missense	25.00	9	3	SNP	1.000	T	T	129803957	C	T	129803957	3	4	130	1	0	0	0	0	1	0	0	0	5143	478	17	3	1105	3	ENOX2	23	129803957	Missense_Mutation	SNP	C	TCGA-LN-A8I0-01A-11D-A36J-09	29915528	129803957	25466603	232	33513											
CLCN6	1185	genome.wustl.edu	37	chr1	11894293	11894293	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgttttccttcactagCtacattggattgggccacat	7	15	9	10	1	1	0	1	0	0	0	3	1	2	1	2	3	2	2	2	3	2	7			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:11894293C>T	ENST00000346436.6	+	16	1579	c.1527C>T	c.(1525-1527)agC>agT	p.S509S	CLCN6_ENST00000376487.3_Splice_Site_p.S487S|CLCN6_ENST00000376496.3_Splice_Site_p.S509S|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	509					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCACTAGCTACATTGGAT	0.532																																																	0													138	123	128					1																	11894293		2203	4300	6503	SO:0001630	splice_region_variant	0			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1527-1C>T	1.37:g.11894293C>T			A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.S509	ENST00000346436.6	37	c.1527	CCDS138.1	1																																																																																			CLCN6	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000011021		0.532	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	-	0	30	0	C	NM_001286	Silent	11894293	1	tier1	-	no_errors	ENST00000346436	ensembl	human	known	74_37	silent	41.46	24	17	SNP	1.000	T	T	11894293	C	T	11894293	5	4	131	1	0	0	0	0	0	0	1	0	3474	811	28	3	1599	3	CLCN6	1	11894293	Splice_Site	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09		11894293	237356328	1	33514											
ALDH4A1	8659	genome.wustl.edu	37	chr1	19199390	19199390	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcttatgtgtctccttGatgacctgcggcgacgtcca	6	11	13	11	3	1	2	0	2	1	0	3	3	2	2	3	3	1	1	3	3	1	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:19199390G>T	ENST00000375341.3	-	15	1898	c.1641C>A	c.(1639-1641)atC>atA	p.I547I	RP13-279N23.2_ENST00000494072.3_Intron|ALDH4A1_ENST00000538309.1_Silent_p.I487I|ALDH4A1_ENST00000290597.5_Silent_p.I547I|ALDH4A1_ENST00000538839.1_Silent_p.I496I	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	547					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)		GTGTCTCCTTGATGACCTGCG	0.592																																																	0													123	111	116					1																	19199390		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1641C>A	1.37:g.19199390G>T			A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.I547	ENST00000375341.3	37	c.1641	CCDS188.1	1																																																																																			ALDH4A1	-	superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	ENSG00000159423		0.592	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	-	0	44	0	G			19199390	-1	tier1	-	no_errors	ENST00000290597	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	T	T	19199390	G	T	19199390	2	4	131	1	0	0	0	0	0	0	0	1	501	1280	45	3		3	ALDH4A1	1	19199390	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	7305097	19199390	230051231	2	33515											
C1QB	713	genome.wustl.edu	37	chr1	22987445	22987445	+	Frame_Shift_Del	DEL	A	A	-																															cccctggagccccaggccccAaaggtgaatcgggagactac																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:22987445delA	ENST00000314933.6	+	3	460	c.328delA	c.(328-330)aaafs	p.K110fs	C1QB_ENST00000509305.1_Frame_Shift_Del_p.K108fs	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	110	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	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)	CCCAGGCCCCAAAGGTGAATC	0.632																																																	0													62	65	64					1																	22987445		2203	4300	6503	SO:0001589	frameshift_variant	0			X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"Complement system"	1242	protein-coding gene	gene with protein product		120570	"complement component 1, q subcomponent, beta polypeptide"			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.328delA	1.37:g.22987445delA	ENSP00000313967:p.Lys110fs		Q5T959|Q96H17	Frame_Shift_Del	DEL	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G111fs	ENST00000314933.6	37	c.328	CCDS228.1	1																																																																																			C1QB	-	pfam_Collagen	ENSG00000173369		0.632	C1QB-201	KNOWN	basic|CCDS	protein_coding	C1QB	HGNC	protein_coding			0	35	0	A	NM_000491		22987445	1	tier1		no_errors	ENST00000314933	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.954	-	-	22987445	A	-	22987445	7	5	131	1	0	1	0	1	0	0	0	0	1962	131	5	0	334	0	C1QB	1	22987445	Frame_Shift_Del	DEL	A	TCGA-LN-A8I1-01A-11D-A36J-09	3788055	22987445	226263176	3	33516											
MUTYH	4595	genome.wustl.edu	37	chr1	45800071	45800071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctagttccttaccatcacagGcagaaggcttggcctgactg	9	10	10	12	0	1	2	1	1	0	1	2	2	2	2	3	3	1	3	3	3	3	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:45800071G>T	ENST00000372098.3	-	2	282	c.149C>A	c.(148-150)gCc>gAc	p.A50D	MUTYH_ENST00000354383.6_Missense_Mutation_p.A36D|MUTYH_ENST00000531105.1_Missense_Mutation_p.A36D|MUTYH_ENST00000528013.2_Missense_Mutation_p.A36D|MUTYH_ENST00000456914.2_Missense_Mutation_p.A36D|MUTYH_ENST00000488731.2_Missense_Mutation_p.A36D|MUTYH_ENST00000372100.5_Missense_Mutation_p.A36D|MUTYH_ENST00000450313.1_Missense_Mutation_p.A50D|MUTYH_ENST00000355498.2_Missense_Mutation_p.A36D|MUTYH_ENST00000372115.3_Missense_Mutation_p.A50D|MUTYH_ENST00000372110.3_Missense_Mutation_p.A50D|MUTYH_ENST00000448481.1_Missense_Mutation_p.A36D|MUTYH_ENST00000372104.1_Missense_Mutation_p.A36D|MUTYH_ENST00000529984.1_Missense_Mutation_p.A36D|MUTYH_ENST00000528332.2_Missense_Mutation_p.A50D			Q9UIF7	MUTYH_HUMAN	mutY homolog	50					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)					ACCATCACAGGCAGAAGGCTT	0.537			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													175	134	148					1																	45800071		2203	4300	6503	SO:0001583	missense	0	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.149C>A	1.37:g.45800071G>T	ENSP00000361170:p.Ala50Asp		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.A50D	ENST00000372098.3	37	c.149	CCDS520.1	1	.	.	.	.	.	.	.	.	.	.	G	5.095	0.203081	0.09704	.	.	ENSG00000132781	ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100;ENST00000531105;ENST00000435155;ENST00000528013;ENST00000483127	T;D;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.91945	2.34;-2.94;3.2;3.13;3.2;3.22;3.2;3.1;3.21;3.18;2.34;3.11;3.13;0.47;1.81;0.81;0.86	3.97	-1.7	0.08159	.	1.606680	0.03449	N	0.210393	D	0.85239	0.5651	L	0.38175	1.15	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002;0.0	B;B;B;B;B;B	0.06405	0.002;0.0;0.001;0.001;0.001;0.0	T	0.67452	-0.5667	10	0.25751	T	0.34	0.6755	2.2748	0.04100	0.0979:0.3183:0.2799:0.3039	.	50;50;50;50;50;36	B4DEX2;E5KP25;Q9UIF7-2;Q9UIF7;E5KP27;E5KP28	.;.;.;MUTYH_HUMAN;.;.	D	36;50;36;36;36;36;36;50;50;50;36;50;36;36;36;36;42	ENSP00000437093:A36D;ENSP00000433076:A50D;ENSP00000361176:A36D;ENSP00000409718:A36D;ENSP00000407590:A36D;ENSP00000346354:A36D;ENSP00000347685:A36D;ENSP00000361170:A50D;ENSP00000361182:A50D;ENSP00000361187:A50D;ENSP00000432330:A36D;ENSP00000408176:A50D;ENSP00000361172:A36D;ENSP00000431292:A36D;ENSP00000403655:A36D;ENSP00000433130:A36D;ENSP00000436469:A42D	ENSP00000346354:A36D	A	-	2	0	MUTYH	45572658	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.475000	0.06599	-0.274000	0.09232	-0.175000	0.13238	GCC	MUTYH	-	NULL	ENSG00000132781		0.537	MUTYH-002	KNOWN	basic|CCDS	protein_coding	MUTYH	HGNC	protein_coding	OTTHUMT00000020529.1		0	53	0	G	NM_012222		45800071	-1			no_errors	ENST00000450313	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.000	T	T	45800071	G	T	45800071	3	4	131	1	0	0	0	0	1	0	0	0	10031	1203	42	3	1560	3	MUTYH	1	45800071	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	22812626	45800071	203450550	4	33517											
MRPL37	51253	genome.wustl.edu	37	chr1	54670731	54670731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaccaagaccaagttaatAgaaggccttcccgagaaagt	15	7	8	11	1	1	3	1	0	0	3	2	4	2	3	4	1	0	1	4	1	6	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:54670731A>G	ENST00000360840.5	+	2	464	c.387A>G	c.(385-387)atA>atG	p.I129M	MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000605337.1_Missense_Mutation_p.I129M|MRPL37_ENST00000336230.6_Intron	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	129					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						CCAAGTTAATAGAAGGCCTTC	0.453																																																	0													90	81	84					1																	54670731		2203	4300	6503	SO:0001583	missense	0			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.387A>G	1.37:g.54670731A>G	ENSP00000354086:p.Ile129Met		Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	pfam_Ribosomal_L37/S30	p.I129M	ENST00000360840.5	37	c.387	CCDS589.1	1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.030937	0.35797	.	.	ENSG00000116221	ENST00000360840;ENST00000329505	T	0.17691	2.26	5.12	1.26	0.21427	.	0.342816	0.34435	N	0.003961	T	0.10981	0.0268	L	0.46157	1.445	0.80722	D	1	B;B	0.31125	0.202;0.309	B;B	0.31442	0.097;0.13	T	0.15435	-1.0437	10	0.28530	T	0.3	-1.8592	0.869	0.01210	0.4556:0.1414:0.1287:0.2743	.	66;129	E9PB99;Q9BZE1	.;RM37_HUMAN	M	129;66	ENSP00000354086:I129M	ENSP00000328799:I66M	I	+	3	3	MRPL37	54443319	0.901000	0.30685	1.000000	0.80357	0.996000	0.88848	-0.039000	0.12124	0.753000	0.32945	0.533000	0.62120	ATA	MRPL37	-	pfam_Ribosomal_L37/S30	ENSG00000116221		0.453	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL37	HGNC	protein_coding	OTTHUMT00000022224.1	-	0	63	0	A	NM_016491		54670731	1	tier1	-	no_errors	ENST00000360840	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.979	G	G	54670731	A	G	54670731	3	3	131	1	0	0	0	0	1	0	0	0	9838	410	15	4	393	4	MRPL37	1	54670731	Missense_Mutation	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09	8870660	54670731	194579890	5	33518											
NCF2	4688	genome.wustl.edu	37	chr1	183543652	183543652	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgccttgtcgattttGgaatgtctgggctcagactt	6	15	10	10	2	2	1	1	0	1	1	5	3	3	2	2	2	0	1	2	2	1	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:183543652G>T	ENST00000367535.3	-	4	722	c.471C>A	c.(469-471)tcC>tcA	p.S157S	NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_Silent_p.S157S|NCF2_ENST00000413720.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	157					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TGTCGATTTTGGAATGTCTGG	0.453																																																	0													330	297	308					1																	183543652		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.471C>A	1.37:g.183543652G>T			B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_TPR_1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain	p.S157	ENST00000367535.3	37	c.471	CCDS1356.1	1																																																																																			NCF2	-	NULL	ENSG00000116701		0.453	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	HGNC	protein_coding	OTTHUMT00000085483.1	-	0	44	0	G	NM_000433		183543652	-1	tier1	-	no_errors	ENST00000367535	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.937	T	T	183543652	G	T	183543652	2	4	131	1	0	0	0	0	0	0	0	1	10256	1335	47	3		3	NCF2	1	183543652	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	128872921	183543652	65706969	6	33519											
OBSCN	84033	genome.wustl.edu	37	chr1	228553240	228553240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaggacctacacataccagGccatcgacacgcacaccgca	14	3	8	16	3	0	1	0	0	0	1	1	3	0	2	4	2	2	2	4	2	2	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:228553240G>A	ENST00000422127.1	+	82	19086	c.19042G>A	c.(19042-19044)Gcc>Acc	p.A6348T	OBSCN_ENST00000570156.2_Missense_Mutation_p.A7305T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A3982T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6348					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)				CACATACCAGGCCATCGACAC	0.657																																																	0													52	65	61					1																	228553240		2158	4253	6411	SO:0001583	missense	0			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.19042G>A	1.37:g.228553240G>A	ENSP00000409493:p.Ala6348Thr		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A6348T	ENST00000422127.1	37	c.19042	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.90|11.90	1.777499|1.777499	0.31411|0.31411	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.61980|.	0.06;0.13|.	4.46|4.46	1.42|1.42	0.22433|0.22433	.|.	.|.	.|.	.|.	.|.	T|T	0.36138|0.36138	0.0956|0.0956	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.12013|.	0.005|.	B|.	0.10450|.	0.005|.	T|T	0.05750|0.05750	-1.0866|-1.0866	9|5	0.08179|.	T|.	0.78|.	.|.	4.4416|4.4416	0.11577|0.11577	0.2977:0.1655:0.5368:0.0|0.2977:0.1655:0.5368:0.0	.|.	6348|.	Q5VST9|.	OBSCN_HUMAN|.	T|D	6348;3982|964	ENSP00000409493:A6348T;ENSP00000355668:A3982T|.	ENSP00000355668:A3982T|.	A|G	+|+	1|2	0|0	OBSCN|OBSCN	226619863|226619863	0.061000|0.061000	0.20836|0.20836	0.315000|0.315000	0.25238|0.25238	0.033000|0.033000	0.12548|0.12548	0.042000|0.042000	0.13949|0.13949	0.091000|0.091000	0.17302|0.17302	0.305000|0.305000	0.20034|0.20034	GCC|GGC	OBSCN	-	NULL	ENSG00000154358		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	51	0	G	NM_052843		228553240	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.835	A	A	228553240	G	A	228553240	3	1	131	1	0	0	0	0	1	0	0	0	10851	1203	42	3	20574	3	OBSCN	1	228553240	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	45009588	228553240	20697381	7	33520											
DISC1	27185	genome.wustl.edu	37	chr1	231906770	231906770	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgcaggacaccctggcctcaGccggtcagattcccttccat	7	9	9	16	1	2	1	2	0	0	1	4	2	4	2	5	3	2	1	5	3	0	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:231906770G>T	ENST00000602281.1	+	6	1641	c.1588G>T	c.(1588-1590)Gcc>Tcc	p.A530S	DISC1_ENST00000439617.2_Missense_Mutation_p.A530S|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.A530S|DISC1_ENST00000535983.1_Missense_Mutation_p.A530S|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.A530S|DISC1_ENST00000602873.1_Missense_Mutation_p.A180S|DISC1_ENST00000366633.3_Missense_Mutation_p.A530S|DISC1_ENST00000539444.1_Missense_Mutation_p.A530S	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	530	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				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)				CCTGGCCTCAGCCGGTCAGAT	0.592																																																	0													39	32	34					1																	231906770		2203	4300	6503	SO:0001583	missense	0			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	ENST00000602281.1:c.1588G>T	1.37:g.231906770G>T	ENSP00000473425:p.Ala530Ser		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	superfamily_Prefoldin	p.A530S	ENST00000602281.1	37	c.1588	CCDS59205.1	1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025158	0.54683	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T	0.12569	3.09;2.9;2.9;2.69;3.08;2.71;2.7;2.67	5.15	4.17	0.49024	.	0.135586	0.50627	D	0.000117	T	0.20333	0.0489	M	0.62723	1.935	0.09310	N	1	P;P;P;P;P;P;P;P;P;P;P;P;P;P;D;P;D;P	0.55605	0.778;0.778;0.897;0.635;0.731;0.753;0.577;0.946;0.883;0.883;0.754;0.883;0.883;0.734;0.972;0.734;0.972;0.754	B;B;P;B;B;B;B;B;B;B;B;B;B;B;P;B;P;B	0.50314	0.375;0.397;0.485;0.244;0.188;0.349;0.188;0.41;0.272;0.272;0.417;0.272;0.272;0.302;0.637;0.302;0.637;0.417	T	0.07252	-1.0782	10	0.28530	T	0.3	-17.8875	10.5536	0.45103	0.0:0.0:0.7114:0.2886	.	562;562;530;530;530;530;530;180;530;530;530;530;530;530;530;530;530;530	C4P096;E2QRA4;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0C1;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	S	530;530;530;562;530;530;530;530;530;530	ENSP00000403888:A530S;ENSP00000355596:A530S;ENSP00000443996:A530S;ENSP00000440909:A530S;ENSP00000355593:A530S;ENSP00000440953:A530S;ENSP00000295051:A530S;ENSP00000441193:A530S	ENSP00000295051:A530S	A	+	1	0	DISC1	229973393	0.957000	0.32711	0.052000	0.19188	0.805000	0.45488	2.858000	0.48356	2.670000	0.90874	0.455000	0.32223	GCC	DISC1	-	superfamily_Prefoldin	ENSG00000162946		0.592	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000467451.1		0	49	0	G	NM_018662		231906770	1			no_errors	ENST00000439617	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.166	T	T	231906770	G	T	231906770	3	4	131	1	0	0	0	0	1	0	0	0	4552	971	34	3	1973	3	DISC1	1	231906770	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	3353530	231906770	17343851	8	33521											
KIF26B	55083	genome.wustl.edu	37	chr1	245850736	245850736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggagcaggacggaaagcCcagtccgggagacaggctca	12	2	16	11	2	1	1	1	0	0	1	2	5	2	4	2	5	2	3	2	5	1	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:245850736C>T	ENST00000407071.2	+	12	4891	c.4451C>T	c.(4450-4452)cCc>cTc	p.P1484L	KIF26B_ENST00000366518.4_Missense_Mutation_p.P1103L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1484					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)			GACGGAAAGCCCAGTCCGGGA	0.622																																																	0													23	28	27					1																	245850736		2150	4255	6405	SO:0001583	missense	0			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.4451C>T	1.37:g.245850736C>T	ENSP00000385545:p.Pro1484Leu		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1484L	ENST00000407071.2	37	c.4451	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059724	0.19987	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76968	-1.06;-1.06	5.42	2.52	0.30459	.	.	.	.	.	T	0.72518	0.3470	M	0.68593	2.085	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62661	-0.6807	9	0.51188	T	0.08	.	6.4758	0.22034	0.308:0.5468:0.0:0.1452	.	1103;1484	B7WPD9;Q2KJY2	.;KI26B_HUMAN	L	1484;1103;1100	ENSP00000385545:P1484L;ENSP00000355475:P1103L	ENSP00000355475:P1103L	P	+	2	0	KIF26B	243917359	0.001000	0.12720	0.000000	0.03702	0.461000	0.32589	0.895000	0.28363	0.350000	0.24002	0.561000	0.74099	CCC	KIF26B	-	NULL	ENSG00000162849		0.622	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0	18	0	C	XM_371354		245850736	1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	73.53	9	25	SNP	0.000	T	T	245850736	C	T	245850736	3	4	131	1	0	0	0	0	1	0	0	0	8322	623	22	3	4497	3	KIF26B	1	245850736	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	13943966	245850736	3399885	9	33522											
ROCK2	9475	genome.wustl.edu	37	chr2	11332707	11332707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcatacaagcctcacaGttggttgggaaatgataaag	13	10	11	7	0	2	1	2	1	0	0	2	2	2	2	1	3	2	3	1	3	5	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:11332707G>T	ENST00000315872.6	-	31	4267	c.3819C>A	c.(3817-3819)aaC>aaA	p.N1273K	ROCK2_ENST00000401753.1_Missense_Mutation_p.N1030K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1273	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AAGCCTCACAGTTGGTTGGGA	0.428																																																	0													70	63	65					2																	11332707		1838	4088	5926	SO:0001583	missense	0			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3819C>A	2.37:g.11332707G>T	ENSP00000317985:p.Asn1273Lys		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.N1273K	ENST00000315872.6	37	c.3819	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970455	0.74246	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.28069	1.63;1.63	5.52	3.73	0.42828	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);Pleckstrin homology domain (3);	0.133468	0.64402	D	0.000003	T	0.34658	0.0905	M	0.64997	1.995	0.51233	D	0.999914	P	0.42337	0.776	P	0.45794	0.493	T	0.04294	-1.0962	10	0.28530	T	0.3	.	9.9629	0.41708	0.2344:0.0:0.7656:0.0	.	1273	O75116	ROCK2_HUMAN	K	1273;1030;631	ENSP00000317985:N1273K;ENSP00000385509:N1030K	ENSP00000317985:N1273K	N	-	3	2	ROCK2	11250158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.180000	0.58296	0.711000	0.32018	0.591000	0.81541	AAC	ROCK2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000134318		0.428	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	-	0	53	0	G			11332707	-1	tier1	-	no_errors	ENST00000315872	ensembl	human	known	74_37	missense	5.13	73	4	SNP	1.000	T	T	11332707	G	T	11332707	3	4	131	1	0	0	0	0	1	0	0	0	13563	1020	36	3	359	3	ROCK2	2	11332707	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		11332707	231866666	10	33523											
ADCY3	109	genome.wustl.edu	37	chr2	25141367	25141367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcccaccgtgtcactagccgCgtgggcacgcgcgaagttca	7	6	13	15	6	2	0	2	0	0	0	2	1	2	0	3	1	1	2	3	1	2	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:25141367C>T	ENST00000260600.5	-	1	1341	c.490G>A	c.(490-492)Gcg>Acg	p.A164T		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	164					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCACTAGCCGCGTGGGCACGC	0.627																																																	0													76	81	79					2																	25141367		2203	4300	6503	SO:0001583	missense	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.490G>A	2.37:g.25141367C>T	ENSP00000260600:p.Ala164Thr		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A164T	ENST00000260600.5	37	c.490	CCDS1715.1	2	.	.	.	.	.	.	.	.	.	.	C	2.796	-0.250334	0.05867	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135	T;T	0.79940	-1.32;-0.9	4.38	3.5	0.40072	.	0.422030	0.23008	N	0.052981	T	0.63022	0.2476	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54111	-0.8342	10	0.06236	T	0.91	.	11.3992	0.49860	0.0:0.9104:0.0:0.0896	.	164;164	B7ZLX9;O60266	.;ADCY3_HUMAN	T	164;139;164	ENSP00000260600:A164T;ENSP00000389799:A164T	ENSP00000260600:A164T	A	-	1	0	ADCY3	24994871	0.960000	0.32886	0.969000	0.41365	0.497000	0.33675	1.955000	0.40372	1.059000	0.40554	0.563000	0.77884	GCG	ADCY3	-	NULL	ENSG00000138031		0.627	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	-	0	46	0	C			25141367	-1	tier1	-	no_errors	ENST00000260600	ensembl	human	known	74_37	missense	9.59	65	7	SNP	0.998	T	T	25141367	C	T	25141367	3	4	131	1	0	0	0	0	1	0	0	0	295	768	27	1	3028	1	ADCY3	2	25141367	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	13808660	25141367	218058006	11	33524											
LHCGR	3973	genome.wustl.edu	37	chr2	48915637	48915637	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcacccactccctgtctgCcagtctatggcatggttata	7	12	8	14	0	2	0	0	0	2	0	3	0	3	0	3	2	2	3	3	2	3	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:48915637C>T	ENST00000294954.7	-	11	1320	c.1299G>A	c.(1297-1299)tgG>tgA	p.W433*	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.W406*|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.W371*|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	433					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)	TCCCTGTCTGCCAGTCTATGG	0.493																																																	0													74	63	66					2																	48915637		2203	4300	6503	SO:0001587	stop_gained	0				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.1299G>A	2.37:g.48915637C>T	ENSP00000294954:p.Trp433*		Q14751|Q15996|Q9UEW9	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.W433*	ENST00000294954.7	37	c.1299	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.387099	0.95988	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2939	0.94114	0.0:1.0:0.0:0.0	.	.	.	.	X	371;433;406	.	.	W	-	3	0	LHCGR	48769141	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.814000	0.86154	2.791000	0.96007	0.655000	0.94253	TGG	LHCGR	-	pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,pfscan_GPCR_Rhodpsn_7TM	ENSG00000138039		0.493	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	-	0	64	0	C	NM_000233.3		48915637	-1	tier1	-	no_errors	ENST00000294954	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	1.000	T	T	48915637	C	T	48915637	4	4	131	1	0	0	0	0	0	1	0	0	8791	740	26	3	804	3	LHCGR	2	48915637	Nonsense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	23774270	48915637	194283736	12	33525											
SMEK2	57223	genome.wustl.edu	37	chr2	55842612	55842612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgatatgcagtatttGgatttatctttgattccaag	9	19	8	5	0	2	2	0	2	2	0	3	3	3	3	1	1	1	3	1	1	4	8	rs199567326		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:55842612G>T	ENST00000345102.5	-	2	474	c.173C>A	c.(172-174)cCa>cAa	p.P58Q	SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000272313.5_Missense_Mutation_p.P58Q|RP11-554J4.1_ENST00000608113.1_RNA|SMEK2_ENST00000407823.3_Missense_Mutation_p.P58Q	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	58	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)			TGCAGTATTTGGATTTATCTT	0.299																																																	0													87	91	90					2																	55842612		2202	4299	6501	SO:0001583	missense	0			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.173C>A	2.37:g.55842612G>T	ENSP00000339769:p.Pro58Gln		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.P58Q	ENST00000345102.5	37	c.173	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486420	0.63962	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.43688	0.94;0.94;0.94	5.4	5.4	0.78164	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	L	0.35723	1.085	0.80722	D	1	B;P;B	0.45768	0.036;0.866;0.082	B;B;B	0.42555	0.036;0.391;0.059	T	0.08330	-1.0727	10	0.25106	T	0.35	-7.0955	19.1747	0.93599	0.0:0.0:1.0:0.0	.	58;58;58	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	Q	58	ENSP00000272313:P58Q;ENSP00000385912:P58Q;ENSP00000339769:P58Q	ENSP00000272313:P58Q	P	-	2	0	SMEK2	55696116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.983000	0.93477	2.548000	0.85928	0.650000	0.86243	CCA	SMEK2	-	NULL	ENSG00000138041		0.299	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	-	0	65	0	G	NM_020463		55842612	-1	tier1	-	no_errors	ENST00000272313	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	55842612	G	T	55842612	3	4	131	1	0	0	0	0	1	0	0	0	14839	1348	47	3	2440	3	SMEK2	2	55842612	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	6926975	55842612	187356761	13	33526											
RNF103	7844	genome.wustl.edu	37	chr2	86831974	86831975	+	Frame_Shift_Ins	INS	-	-	A																															tgagaaccacaaatcgctttINSatggtagctccttgtgtaat																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:86831974_86831975insA	ENST00000237455.4	-	4	2017_2018	c.1049_1050insT	c.(1048-1050)atafs	p.I350fs	AC015971.2_ENST00000426549.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|RNF103_ENST00000477307.1_5'UTR	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	350					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						CAAATCGCTTTATGGTAGCTCC	0.376																																																	0																																										SO:0001589	frameshift_variant	0			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.1050dupT	2.37:g.86831975_86831975dupA	ENSP00000237455:p.Ile350fs		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Frame_Shift_Ins	INS	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.R352fs	ENST00000237455.4	37	c.1050_1049	CCDS33237.1	2																																																																																			RNF103	-	NULL	ENSG00000239305		0.376	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2		0	62	0	-	NM_005667		86831975	-1	tier1		no_errors	ENST00000237455	ensembl	human	known	74_37	frame_shift_ins	19.64	45	11	INS	0.588:1.000	A	A	86831975	-	A	86831974	7	5	131	1	0	1	1	0	0	0	0	0	13468	1744	61	0	1011	0	RNF103	2	86831974	Frame_Shift_Ins	INS	-	TCGA-LN-A8I1-01A-11D-A36J-09	30989362	86831974	156367399	14	33527											
SMYD1	150572	genome.wustl.edu	37	chr2	88367423	88367423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacgtggaggtcttcaccGctgagggcaaaggaaggggt	11	6	17	7	2	2	2	1	1	1	1	2	4	2	4	1	6	1	2	1	6	3	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:88367423G>A	ENST00000419482.2	+	1	125	c.40G>A	c.(40-42)Gct>Act	p.A14T	SMYD1_ENST00000444564.2_Missense_Mutation_p.A14T|SMYD1_ENST00000438570.1_Missense_Mutation_p.A14T	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	14	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						GGTCTTCACCGCTGAGGGCAA	0.517																																																	0													208	230	223					2																	88367423		2203	4300	6503	SO:0001583	missense	0			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.40G>A	2.37:g.88367423G>A	ENSP00000393453:p.Ala14Thr		A0AV30|A6NE13	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.A14T	ENST00000419482.2	37	c.40	CCDS33240.1	2	.	.	.	.	.	.	.	.	.	.	g	8.494	0.862597	0.17178	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T;T	0.12672	2.66;2.66;2.66	5.85	-0.78	0.10969	SET domain (1);	0.371252	0.31156	N	0.008156	T	0.03348	0.0097	N	0.02315	-0.6	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.40608	-0.9554	10	0.09590	T	0.72	-3.9829	4.4183	0.11468	0.1969:0.0609:0.4293:0.3128	.	14;14	Q8NB12;C9JUP3	SMYD1_HUMAN;.	T	14	ENSP00000393453:A14T;ENSP00000407888:A14T;ENSP00000387482:A14T	ENSP00000393453:A14T	A	+	1	0	SMYD1	88148538	0.015000	0.18098	0.011000	0.14972	0.660000	0.38997	0.059000	0.14322	-0.356000	0.08187	-1.068000	0.02270	GCT	SMYD1	-	smart_SET_dom	ENSG00000115593		0.517	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	-	0	103	0	G	XM_097915		88367423	1	tier1	-	no_errors	ENST00000419482	ensembl	human	known	74_37	missense	14.72	139	24	SNP	0.187	A	A	88367423	G	A	88367423	3	1	131	1	0	0	0	0	1	0	0	0	14866	1087	38	1	42	1	SMYD1	2	88367423	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	1535449	88367423	154831950	15	33528											
TRIM43	129868	genome.wustl.edu	37	chr2	96265165	96265165	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccagtgtttcctcactaCatagagaaacctctgggccg	9	10	8	14	1	2	1	1	0	1	1	4	2	4	1	5	1	2	1	5	1	3	3	rs200456827		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:96265165C>T	ENST00000272395.2	+	7	1321	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	395	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						TTCCTCACTACATAGAGAAAC	0.418																																																	0													1	1	1					2																	96265165		500	1208	1708	SO:0001819	synonymous_variant	0			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.1185C>T	2.37:g.96265165C>T			Q53TJ7	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Y395	ENST00000272395.2	37	c.1185	CCDS2015.1	2																																																																																			TRIM43	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000144015		0.418	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM43	HGNC	protein_coding	OTTHUMT00000252784.1	-	0	13	0	C	NM_138800		96265165	1	tier1	rs200456827	no_errors	ENST00000272395	ensembl	human	known	74_37	silent	24.44	34	11	SNP	0.000	T	T	96265165	C	T	96265165	2	4	131	1	0	0	0	0	0	0	0	1	16566	489	17	3		3	TRIM43	2	96265165	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	7897742	96265165	146934208	16	33529											
TANK	10010	genome.wustl.edu	37	chr2	162087649	162087649	+	Missense_Mutation	SNP	T	T	A	0	1	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	acacctcttttgaatcacttTctaaattcaatgtcaagttt	12	17	3	9	0	5	1	3	1	2	0	5	1	5	1	1	0	0	1	1	0	5	6			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:162087649T>A	ENST00000392749.2	+	7	927	c.688T>A	c.(688-690)Tct>Act	p.S230T	TANK_ENST00000406287.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Missense_Mutation_p.S230T|TANK_ENST00000405852.1_Missense_Mutation_p.S230T|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000402568.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	230					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						TGAATCACTTTCTAAATTCAA	0.448																																																	0													127	122	124					2																	162087649		2203	4300	6503	SO:0001583	missense	0			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.688T>A	2.37:g.162087649T>A	ENSP00000376505:p.Ser230Thr		D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	NULL	p.S230T	ENST00000392749.2	37	c.688	CCDS2215.1	2	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624973	0.66901	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623	T;T;T;T	0.38887	1.74;1.74;1.13;1.11	5.78	5.78	0.91487	.	0.234286	0.45361	D	0.000372	T	0.62636	0.2444	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.65005	-0.6273	10	0.72032	D	0.01	-13.4882	16.4053	0.83662	0.0:0.0:0.0:1.0	.	230	Q92844	TANK_HUMAN	T	230;230;230;121	ENSP00000259075:S230T;ENSP00000376505:S230T;ENSP00000385487:S230T;ENSP00000412556:S121T	ENSP00000259075:S230T	S	+	1	0	TANK	161795895	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.528000	0.60580	2.333000	0.79357	0.482000	0.46254	TCT	TANK	-	NULL	ENSG00000136560		0.448	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1		0	31	0	T	NM_133484		162087649	1			no_errors	ENST00000259075	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A	A	162087649	T	A	162087649	3	1	131	1	0	0	0	0	1	0	0	0	15593	1783	62	5	743	5	TANK	2	162087649	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	65822484	162087649	81111724	17	33530											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098800	178098800	+	Missense_Mutation	SNP	T	T	G	0	1	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	ctggctgaattgggagaaatTcacctgtctcttcatctagt	9	14	9	9	0	4	2	2	1	2	1	5	3	4	2	1	2	0	1	1	2	3	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:178098800T>G	ENST00000397062.3	-	2	799	c.245A>C	c.(244-246)gAa>gCa	p.E82A	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66A|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82G(3)|p.G81_F83delGEF(1)|p.E82V(1)		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)			TGGGAGAAATTCACCTGTCTC	0.433			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	5	Substitution - Missense(4)|Deletion - In frame(1)	liver(3)|lung(1)|oesophagus(1)											137	137	137					2																	178098800		1900	4105	6005	SO:0001583	missense	0				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.245A>C	2.37:g.178098800T>G	ENSP00000380252:p.Glu82Ala		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E82A	ENST00000397062.3	37	c.245	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942622	0.92526	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.37235	1.69;1.69;1.69;1.21;1.21;1.69	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.85130	0.996;0.989;0.997;0.996	T	0.72959	-0.4133	10	0.87932	D	0	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	A	66;82;66;66;66;66	ENSP00000380253:E66A;ENSP00000380252:E82A;ENSP00000411575:E66A;ENSP00000400073:E66A;ENSP00000412191:E66A;ENSP00000410015:E66A	ENSP00000380252:E82A	E	-	2	0	NFE2L2	177807046	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.503000	0.81632	2.210000	0.71456	0.460000	0.39030	GAA	NFE2L2	-	NULL	ENSG00000116044		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0	76	0	T	NM_006164		178098800	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	69.59	45	103	SNP	1.000	G	G	178098800	T	G	178098800	3	3	131	1	0	0	0	0	1	0	0	0	10407	1783	62	4	1588	4	NFE2L2	2	178098800	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	16011151	178098800	65100573	18	33531											
IHH	3549	genome.wustl.edu	37	chr2	219920344	219920344	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cagccgtaaagagcaggtgaGcgggtgtgagtgccaggcgg	9	5	19	8	3	0	3	0	2	0	1	0	3	0	3	2	4	4	2	2	4	2	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:219920344G>T	ENST00000295731.6	-	3	820	c.821C>A	c.(820-822)gCt>gAt	p.A274D		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	274					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)		GAGCAGGTGAGCGGGTGTGAG	0.642																																																	0													51	53	52					2																	219920344		2203	4300	6503	SO:0001583	missense	0			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.821C>A	2.37:g.219920344G>T	ENSP00000295731:p.Ala274Asp		B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site	p.A274D	ENST00000295731.6	37	c.821	CCDS33380.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096143	0.76870	.	.	ENSG00000163501	ENST00000295731	D	0.98732	-5.1	5.16	5.16	0.70880	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.049948	0.85682	D	0.000000	D	0.98741	0.9577	M	0.72118	2.19	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.99922	1.1260	10	0.13470	T	0.59	-2.0169	18.2593	0.90030	0.0:0.0:1.0:0.0	.	274	Q14623	IHH_HUMAN	D	274	ENSP00000295731:A274D	ENSP00000295731:A274D	A	-	2	0	IHH	219628588	0.996000	0.38824	0.985000	0.45067	0.675000	0.39556	6.533000	0.73829	2.381000	0.81170	0.561000	0.74099	GCT	IHH	-	pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,prints_Hedgehog,pfscan_Intein_splice_site	ENSG00000163501		0.642	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IHH	HGNC	protein_coding	OTTHUMT00000336408.2	-	0	63	0	G	NM_002181		219920344	-1	tier1	-	no_errors	ENST00000295731	ensembl	human	known	74_37	missense	5.21	91	5	SNP	1.000	T	T	219920344	G	T	219920344	3	4	131	1	0	0	0	0	1	0	0	0	7634	971	34	3	418	3	IHH	2	219920344	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	41821544	219920344	23279029	19	33532											
IRS1	3667	genome.wustl.edu	37	chr2	227661396	227661398	+	In_Frame_Del	DEL	TGC	TGC	-																															ggtcccggaagggacggcgtTgctgctgctgctgctgctgc																								rs138975702	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:227661396_227661398delTGC	ENST00000305123.5	-	1	3077_3079	c.2057_2059delGCA	c.(2056-2061)agcaac>aac	p.S686del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	686	Poly-Ser.				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)		GGGACGGCGTtgctgctgctgct	0.621											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70	0.0139776	0.0356	0.0072	5008	,	,		17570	0.004		0.008	False		,,,				2504	0.0061																0			GRCh37	CD951753	IRS1	D	rs138975702																																			SO:0001651	inframe_deletion	0				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.2057_2059delGCA	2.37:g.227661405_227661407delTGC	ENSP00000304895:p.Ser686del	2321		In_Frame_Del	DEL	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.S686in_frame_del	ENST00000305123.5	37	c.2059_2057	CCDS2463.1	2																																																																																			IRS1	-	NULL	ENSG00000169047		0.621	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3		0	61	0	TGC	NM_005544		227661398	-1	tier1		no_errors	ENST00000305123	ensembl	human	known	74_37	in_frame_del	12.50	42	6	DEL	0.115:0.543:0.508	-	-	227661398	TGC	-	227661396	7	5	131	1	0	1	0	1	0	0	0	0	7867	1812	63	0	1673	0	IRS1	2	227661396	In_Frame_Del	DEL	TGC	TCGA-LN-A8I1-01A-11D-A36J-09	7741052	227661396	15537977	20	33533											
COL6A3	1293	genome.wustl.edu	37	chr2	238253432	238253432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttggttgactccctcaGaggtgtctaaagcaaaggct	9	12	11	9	0	3	2	1	1	2	1	4	2	4	2	1	3	1	3	1	3	3	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:238253432G>T	ENST00000295550.4	-	36	7681	c.7229C>A	c.(7228-7230)tCt>tAt	p.S2410Y	COL6A3_ENST00000353578.4_Missense_Mutation_p.S2204Y|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1803Y|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2209Y|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2204Y|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2210Y	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2410	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACTCCCTCAGAGGTGTCTAA	0.537																																																	0													81	87	85					2																	238253432		2202	4300	6502	SO:0001583	missense	0			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.7229C>A	2.37:g.238253432G>T	ENSP00000295550:p.Ser2410Tyr		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.S2410Y	ENST00000295550.4	37	c.7229	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280726	0.23392	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	5.08	5.08	0.68730	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000059	D	0.99124	0.9698	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.993;0.989;0.988;0.998	D	0.99821	1.1047	10	0.87932	D	0	.	18.4964	0.90866	0.0:0.0:1.0:0.0	.	1803;1803;2204;2410	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	Y	2410;2209;2204;1803;2204;2210	ENSP00000295550:S2410Y;ENSP00000315609:S2209Y;ENSP00000315873:S2204Y;ENSP00000418285:S1803Y;ENSP00000386844:S2204Y;ENSP00000295546:S2210Y	ENSP00000295550:S2410Y	S	-	2	0	COL6A3	237918171	1.000000	0.71417	0.953000	0.39169	0.119000	0.20118	9.680000	0.98651	2.358000	0.79984	0.561000	0.74099	TCT	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0	49	0	G	NM_004369		238253432	-1			no_errors	ENST00000295550	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	238253432	G	T	238253432	3	4	131	1	0	0	0	0	1	0	0	0	3708	942	33	3	2340	3	COL6A3	2	238253432	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	10592036	238253432	4945941	21	33534											
KLHL30	377007	genome.wustl.edu	37	chr2	239049954	239049954	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgtctggccggcgacCtgctgcaggtacagccggag	6	8	14	13	3	2	0	1	0	1	0	2	2	2	1	3	4	4	3	3	4	1	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:239049954C>T	ENST00000409223.1	+	2	666	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	KLHL30_ENST00000305959.4_Silent_p.L169L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	187	BACK.									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)		GGCCGGCGACCTGCTGCAGGT	0.687																																																	0													11	15	14					2																	239049954		2071	4173	6244	SO:0001819	synonymous_variant	0				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.559C>T	2.37:g.239049954C>T			Q6ZUS1	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L187	ENST00000409223.1	37	c.559	CCDS46555.2	2																																																																																			KLHL30	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000168427		0.687	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1		0	52	0	C	NM_198582		239049954	1			no_errors	ENST00000409223	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	T	T	239049954	C	T	239049954	2	4	131	1	0	0	0	0	0	0	0	1	8411	680	24	3		3	KLHL30	2	239049954	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	796522	239049954	4149419	22	33535											
CHL1	10752	genome.wustl.edu	37	chr3	405013	405013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggtcttactcatgttGggtagaaaatgctataggaa	11	13	12	5	0	2	1	1	0	1	1	2	2	2	2	0	3	3	4	0	3	7	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:405013G>T	ENST00000256509.2	+	14	2174	c.1532G>T	c.(1531-1533)tGg>tTg	p.W511L	CHL1-AS1_ENST00000608098.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.W495L|CHL1-AS1_ENST00000417612.1_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)		TACTCATGTTGGGTAGAAAAT	0.408																																																	0													145	138	140					3																	405013		2203	4300	6503	SO:0001583	missense	0			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.1532G>T	3.37:g.405013G>T	ENSP00000256509:p.Trp511Leu		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W511L	ENST00000256509.2	37	c.1532	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	9.491	1.100676	0.20552	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.65732	-0.17;-0.17	5.11	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.226724	0.40064	N	0.001184	T	0.26882	0.0658	N	0.00750	-1.22	0.42629	D	0.993376	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.13407	0.001;0.001;0.009	T	0.28490	-1.0042	10	0.10377	T	0.69	.	10.4394	0.44455	0.0:0.0:0.7188:0.2812	.	495;495;511	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	L	511;495	ENSP00000256509:W511L;ENSP00000380628:W495L	ENSP00000256509:W511L	W	+	2	0	CHL1	380013	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.233000	0.43027	2.516000	0.84829	0.650000	0.86243	TGG	CHL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134121		0.408	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	-	0	45	0	G	NM_006614		405013	1	tier1	-	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	405013	G	T	405013	3	4	131	1	0	0	0	0	1	0	0	0	3356	1357	47	3	1578	3	CHL1	3	405013	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		405013	197617417	23	33536											
ARL8B	55207	genome.wustl.edu	37	chr3	5164159	5164159	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggccgccatcatgctggcGctcatctcccgcctgctgga	4	8	11	18	4	3	0	2	0	1	0	4	1	3	1	5	3	2	3	5	3	0	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:5164159G>T	ENST00000256496.3	+	1	255	c.9G>T	c.(7-9)gcG>gcT	p.A3A	ARL8B_ENST00000419534.2_Silent_p.A3A	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	3					cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		TCATGCTGGCGCTCATCTCCC	0.672																																																	0													28	26	27					3																	5164159		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25564	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10C"	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.9G>T	3.37:g.5164159G>T			B4DI85	Missense_Mutation	SNP	NULL	p.A61S	ENST00000256496.3	37	c.181	CCDS2566.1	3																																																																																			ARL8B	-	NULL	ENSG00000134108		0.672	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL8B	HGNC	protein_coding	OTTHUMT00000206910.2	-	0	35	0	G	NM_018184		5164159	1	tier1	-	no_errors	ENST00000455168	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	5164159	G	T	5164159	2	4	131	1	0	0	0	0	0	0	0	1	948	1074	38	2		2	ARL8B	3	5164159	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	4759146	5164159	192858271	24	33537											
C3orf31	132001	genome.wustl.edu	37	chr3	11888004	11888004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctgaactcggccctgcctggCggtacaccccggagccgtag	6	6	13	16	4	0	1	0	1	0	0	1	2	0	2	5	4	4	2	5	4	3	2	rs539517679		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:11888004C>T	ENST00000444133.2	-	1	249	c.107G>A	c.(106-108)cGc>cAc	p.R36H	TAMM41_ENST00000273037.5_Missense_Mutation_p.R36H|TAMM41_ENST00000455809.1_Missense_Mutation_p.R36H			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	36					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										CCCTGCCTGGCGGTACACCCC	0.627																																																	0													65	63	64					3																	11888004		2203	4300	6503	SO:0001583	missense	0				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.107G>A	3.37:g.11888004C>T	ENSP00000388598:p.Arg36His		B4DIY7|C9J2U4	Missense_Mutation	SNP	pfam_Mmp37,pirsf_Mmp37	p.R36H	ENST00000444133.2	37	c.107		3	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889314	0.52014	.	.	ENSG00000144559	ENST00000455809;ENST00000273037;ENST00000444133	T;T;T	0.31247	1.5;1.5;1.5	4.71	4.71	0.59529	.	0.152272	0.45867	D	0.000333	T	0.23688	0.0573	L	0.37750	1.13	0.49915	D	0.999831	P;P;B	0.50528	0.936;0.465;0.211	B;B;B	0.39379	0.298;0.066;0.028	T	0.02546	-1.1143	10	0.41790	T	0.15	-44.8462	13.039	0.58889	0.0:1.0:0.0:0.0	.	36;36;36	B4DIY7;C9J2U4;Q96BW9	.;.;TAM41_HUMAN	H	36	ENSP00000398596:R36H;ENSP00000273037:R36H;ENSP00000388598:R36H	ENSP00000273037:R36H	R	-	2	0	TAMM41	11863004	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	1.407000	0.34657	2.445000	0.82738	0.467000	0.42956	CGC	TAMM41	-	pfam_Mmp37,pirsf_Mmp37	ENSG00000144559		0.627	TAMM41-008	PUTATIVE	basic	protein_coding	TAMM41	HGNC	protein_coding	OTTHUMT00000339258.2		0	90	0	C	NM_138807		11888004	-1			no_errors	ENST00000273037	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	11888004	C	T	11888004	3	4	131	1	0	0	0	0	1	0	0	0	2228	768	27	1	871	1	C3orf31	3	11888004	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	6723845	11888004	186134426	25	33538											
CAND2	23066	genome.wustl.edu	37	chr3	12849824	12849824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggacatcctctctgacatGctgagcaggtgtgggaggcc	7	9	14	11	0	1	2	0	2	1	0	3	4	2	4	2	4	2	2	2	4	0	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:12849824G>T	ENST00000456430.2	+	4	524	c.483G>T	c.(481-483)atG>atT	p.M161I	CAND2_ENST00000295989.5_Intron|CAND2_ENST00000466558.1_3'UTR	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	161					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						TCTCTGACATGCTGAGCAGGT	0.582																																					GBM(43;676 868 1633 6395 37496)												0													50	45	47					3																	12849824		692	1591	2283	SO:0001583	missense	0				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.483G>T	3.37:g.12849824G>T	ENSP00000387641:p.Met161Ile		B9EGM9|E9KL24	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.M161I	ENST00000456430.2	37	c.483	CCDS54554.1	3	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983878	0.53827	.	.	ENSG00000144712	ENST00000456430	T	0.60548	0.18	5.74	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.38532	0.1044	N	0.12961	0.28	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17137	-1.0379	9	0.25106	T	0.35	-14.6911	11.7841	0.52032	0.084:0.0:0.916:0.0	.	161	O75155	CAND2_HUMAN	I	161	ENSP00000387641:M161I	ENSP00000387641:M161I	M	+	3	0	CAND2	12824824	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.529000	0.67135	2.726000	0.93360	0.655000	0.94253	ATG	CAND2	-	superfamily_ARM-type_fold	ENSG00000144712		0.582	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	-	0	35	0	G	XM_371617		12849824	1	tier1	-	no_errors	ENST00000456430	ensembl	human	known	74_37	missense	16.67	25	5	SNP	1.000	T	T	12849824	G	T	12849824	3	4	131	1	0	0	0	0	1	0	0	0	2623	1319	46	3	497	3	CAND2	3	12849824	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	961820	12849824	185172606	26	33539											
GALNTL2	117248	genome.wustl.edu	37	chr3	16250103	16250103	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcgtggggtgttggactgGaagctggatttccactggga	7	10	17	7	1	0	0	0	0	0	0	1	4	1	4	1	6	2	2	1	6	1	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:16250103G>A	ENST00000339732.5	+	4	1508	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	GALNT15_ENST00000437509.1_Nonsense_Mutation_p.W335*	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	335					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)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TGTTGGACTGGAAGCTGGATT	0.537																																																	0													139	129	132					3																	16250103		2203	4300	6503	SO:0001587	stop_gained	0			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1005G>A	3.37:g.16250103G>A	ENSP00000344260:p.Trp335*		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Nonsense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.W335*	ENST00000339732.5	37	c.1005	CCDS33711.1	3	.	.	.	.	.	.	.	.	.	.	G	41	9.072233	0.99057	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0212	0.97504	0.0:0.0:1.0:0.0	.	.	.	.	X	335	.	ENSP00000344260:W335X	W	+	3	0	GALNTL2	16225107	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.804000	0.99143	2.735000	0.93741	0.561000	0.74099	TGG	GALNT15	-	pfam_Glyco_trans_2	ENSG00000131386		0.537	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT15	HGNC	protein_coding	OTTHUMT00000346483.2	-	0	124	0	G	NM_054110		16250103	1	tier1	-	no_errors	ENST00000339732	ensembl	human	known	74_37	nonsense	28.44	78	31	SNP	1.000	A	A	16250103	G	A	16250103	4	1	131	1	0	0	0	0	0	1	0	0	6247	1183	41	3	1019	3	GALNTL2	3	16250103	Nonsense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	3400279	16250103	181772327	27	33540											
SETD2	29072	genome.wustl.edu	37	chr3	47165837	47165837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtttggagtatcactttGcttttcattgccaagtgcag	8	15	11	7	0	2	0	2	0	0	0	2	1	2	1	1	2	3	4	1	2	2	6			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:47165837G>T	ENST00000409792.3	-	3	331	c.289C>A	c.(289-291)Caa>Aaa	p.Q97K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	97					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)		GTATCACTTTGCTTTTCATTG	0.413			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													245	205	217					3																	47165837		692	1591	2283	SO:0001583	missense	0			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.289C>A	3.37:g.47165837G>T	ENSP00000386759:p.Gln97Lys		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.Q97K	ENST00000409792.3	37	c.289	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464080	0.26335	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.90069	-2.61;1.28	5.42	5.42	0.78866	.	.	.	.	.	D	0.83078	0.5176	N	0.19112	0.55	0.28934	N	0.891383	B;B	0.34015	0.435;0.435	B;B	0.29598	0.104;0.054	T	0.80004	-0.1564	9	0.87932	D	0	.	19.2139	0.93768	0.0:0.0:1.0:0.0	.	97;97	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	97;97;97;53	ENSP00000386759:Q97K;ENSP00000416401:Q53K	ENSP00000386759:Q97K	Q	-	1	0	SETD2	47140841	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.381000	0.66208	2.534000	0.85438	0.563000	0.77884	CAA	SETD2	-	NULL	ENSG00000181555		0.413	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	-	0	66	0	G	NM_014159		47165837	-1	tier1	-	no_errors	ENST00000409792	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	47165837	G	T	47165837	3	4	131	1	0	0	0	0	1	0	0	0	14176	1328	46	3	7481	3	SETD2	3	47165837	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	30915734	47165837	150856593	28	33541											
DHX30	22907	genome.wustl.edu	37	chr3	47889696	47889696	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctggagacagtgtgggtAtcaagagccaatgtgatcca	11	9	13	8	0	1	3	1	1	0	2	2	4	2	3	3	2	2	1	3	2	3	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:47889696A>G	ENST00000445061.1	+	15	2720	c.2313A>G	c.(2311-2313)gtA>gtG	p.V771V	DHX30_ENST00000348968.4_Silent_p.V743V|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Silent_p.V799V|DHX30_ENST00000446256.2_Silent_p.V732V	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	771	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					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)		CAGTGTGGGTATCAAGAGCCA	0.607																																																	0													65	64	64					3																	47889696		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2313A>G	3.37:g.47889696A>G			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V771	ENST00000445061.1	37	c.2313	CCDS2759.1	3																																																																																			DHX30	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000132153		0.607	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2		0	53	0	A	NM_138615		47889696	1			no_errors	ENST00000445061	ensembl	human	known	74_37	silent	12.77	41	6	SNP	1.000	G	G	47889696	A	G	47889696	2	3	131	1	0	0	0	0	0	0	0	1	4518	436	16	4		4	DHX30	3	47889696	Silent	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09	723859	47889696	150132734	29	33542											
CCDC36	339834	genome.wustl.edu	37	chr3	49278678	49278678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gggtgaacctagcattttcaCaaagtaccagacaaagcccc	14	7	8	12	0	1	2	1	1	0	1	1	2	1	2	4	1	4	2	4	1	5	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:49278678C>A	ENST00000438782.1	+	4	487	c.251C>A	c.(250-252)aCa>aAa	p.T84K	CCDC36_ENST00000296449.5_Missense_Mutation_p.T84K|CCDC36_ENST00000452691.2_Missense_Mutation_p.T84K|CCDC36_ENST00000451634.2_Missense_Mutation_p.T74K|CCDC36_ENST00000366429.2_Missense_Mutation_p.T84K			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	84										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AGCATTTTCACAAAGTACCAG	0.358																																																	0													61	64	63					3																	49278678		2203	4300	6503	SO:0001583	missense	0			AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"cancer/testis antigen 74"						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.251C>A	3.37:g.49278678C>A	ENSP00000391788:p.Thr84Lys		C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	NULL	p.T84K	ENST00000438782.1	37	c.251	CCDS33755.2	3	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880935	0.51801	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000366429;ENST00000309062;ENST00000451634	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	4.75	2.92	0.33932	.	0.570526	0.16538	N	0.210061	T	0.14614	0.0353	L	0.27053	0.805	0.23016	N	0.998428	B;P	0.39250	0.13;0.665	B;B	0.44224	0.069;0.444	T	0.10359	-1.0633	10	0.52906	T	0.07	-0.6399	7.3527	0.26700	0.0:0.7252:0.0:0.2748	.	84;84	Q8IYA8-3;Q8IYA8	.;CCD36_HUMAN	K	84;84;84;84;91;74	ENSP00000296449:T84K;ENSP00000391788:T84K;ENSP00000407837:T84K;ENSP00000403700:T84K;ENSP00000397641:T74K	ENSP00000296449:T84K	T	+	2	0	CCDC36	49253682	0.999000	0.42202	0.987000	0.45799	0.941000	0.58515	1.308000	0.33528	0.698000	0.31739	0.467000	0.42956	ACA	CCDC36	-	NULL	ENSG00000173421		0.358	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC36	HGNC	protein_coding	OTTHUMT00000342332.1		0	85	0	C	NM_178173		49278678	1			no_errors	ENST00000296449	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.963	A	A	49278678	C	A	49278678	3	1	131	1	0	0	0	0	1	0	0	0	2815	478	17	3	261	3	CCDC36	3	49278678	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	1388982	49278678	148743752	30	33543											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64524929	64524929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cccggctgtggcaaaagggaCgggatgtccttcgcttgtcc	6	9	14	12	3	0	0	0	0	0	0	3	2	2	2	3	4	0	3	3	4	2	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:64524929C>T	ENST00000498707.1	-	37	5905	c.5563G>A	c.(5563-5565)Gtc>Atc	p.V1855I	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V1827I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1855	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCAAAAGGGACGGGATGTCCT	0.572																																																	0													125	109	114					3																	64524929		2203	4300	6503	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5563G>A	3.37:g.64524929C>T	ENSP00000418735:p.Val1855Ile		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V1855I	ENST00000498707.1	37	c.5563	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577815	0.86645	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.18657	2.2;2.2	5.62	4.76	0.60689	Peptidase M12B, GON-ADAMTSs (2);	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	M	0.71920	2.185	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.64321	0.924;0.924	T	0.41875	-0.9484	10	0.59425	D	0.04	.	14.5997	0.68432	0.0:0.9298:0.0:0.0702	.	1827;1855	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	I	1827;1855	ENSP00000295903:V1827I;ENSP00000418735:V1855I	ENSP00000295903:V1827I	V	-	1	0	ADAMTS9	64499969	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	7.076000	0.76806	1.383000	0.46405	0.585000	0.79938	GTC	ADAMTS9	-	pfam_Pept_M12B_GON-ADAMTSs,pfscan_Pept_M12B_GON-ADAMTSs	ENSG00000163638		0.572	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0	67	0	C			64524929	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	64524929	C	T	64524929	3	4	131	1	0	0	0	0	1	0	0	0	273	536	19	1	256	1	ADAMTS9	3	64524929	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	15246251	64524929	133497501	31	33544											
ZNF654	55279	genome.wustl.edu	37	chr3	88188630	88188630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatacagaggcagcaaattgCtgcagctcaacaggatgatc	14	7	11	9	0	1	2	1	1	0	1	2	4	1	3	0	2	6	5	0	2	3	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:88188630C>T	ENST00000309495.5	+	1	377	c.170C>T	c.(169-171)gCt>gTt	p.A57V	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	57					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.A18V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CAGCAAATTGCTGCAGCTCAA	0.358																																																	1	Substitution - Missense(1)	ovary(1)											87	87	87					3																	88188630		1894	4109	6003	SO:0001583	missense	0			AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.170C>T	3.37:g.88188630C>T	ENSP00000312141:p.Ala57Val		Q9H791|Q9NV14	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A57V	ENST00000309495.5	37	c.170	CCDS46874.1	3	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981286	0.53827	.	.	ENSG00000175105	ENST00000309495	T	0.11063	2.81	5.42	5.42	0.78866	.	1.116960	0.06558	N	0.746224	T	0.15609	0.0376	L	0.29908	0.895	0.40517	D	0.980791	P	0.48589	0.912	P	0.45310	0.476	T	0.33394	-0.9870	10	0.32370	T	0.25	.	18.2814	0.90099	0.0:1.0:0.0:0.0	.	57	Q8IZM8	ZN654_HUMAN	V	57	ENSP00000312141:A57V	ENSP00000312141:A57V	A	+	2	0	ZNF654	88271320	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.704000	0.74639	2.565000	0.86533	0.549000	0.68633	GCT	ZNF654	-	NULL	ENSG00000175105		0.358	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF654	HGNC	protein_coding	OTTHUMT00000353285.2		0	20	0	C	NM_018293		88188630	1			no_errors	ENST00000309495	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	88188630	C	T	88188630	3	4	131	1	0	0	0	0	1	0	0	0	18115	797	28	3	172	3	ZNF654	3	88188630	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	23663701	88188630	109833800	32	33545											
C3orf38	285237	genome.wustl.edu	37	chr3	88199286	88199286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaacgacgagatcatggcCctatgcgacactgtcaccaa	13	6	9	13	3	2	1	2	0	0	1	2	5	2	1	2	1	2	0	2	1	3	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:88199286C>T	ENST00000318887.3	+	1	394	c.84C>T	c.(82-84)gcC>gcT	p.A28A	CGGBP1_ENST00000462901.1_5'Flank|C3orf38_ENST00000486971.1_Silent_p.A28A	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	28					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)		AGATCATGGCCCTATGCGACA	0.632																																																	0													108	81	90					3																	88199286		2203	4300	6503	SO:0001819	synonymous_variant	0			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.84C>T	3.37:g.88199286C>T			B2R8X6|Q8TC85	Silent	SNP	NULL	p.A28	ENST00000318887.3	37	c.84	CCDS2921.2	3																																																																																			C3orf38	-	NULL	ENSG00000179021		0.632	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf38	HGNC	protein_coding	OTTHUMT00000341513.1	-	0	72	0	C	NM_173824		88199286	1	tier1	-	no_errors	ENST00000318887	ensembl	human	known	74_37	silent	72.50	11	29	SNP	1.000	T	T	88199286	C	T	88199286	2	4	131	1	0	0	0	0	0	0	0	1	2235	610	22	3		3	C3orf38	3	88199286	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	10656	88199286	109823144	33	33546											
CPOX	1371	genome.wustl.edu	37	chr3	98311880	98311880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctgggcctgggtctccaGaatcagcagctccatcttgg	7	9	11	14	0	3	1	1	0	2	1	5	1	4	1	4	3	2	2	4	3	1	1	rs148466102		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:98311880G>C	ENST00000264193.2	-	1	687	c.469C>G	c.(469-471)Ctg>Gtg	p.L157V		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	157					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						TGGGTCTCCAGAATCAGCAGC	0.657																																					Esophageal Squamous(75;7 1223 22300 43648 48951)												0													31	31	31					3																	98311880		2203	4300	6503	SO:0001583	missense	0			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.469C>G	3.37:g.98311880G>C	ENSP00000264193:p.Leu157Val		A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	pfam_Coprogen_oxidase_aer,superfamily_Coprogen_oxidase_aer,prints_Coprogen_oxidase_aer	p.L157V	ENST00000264193.2	37	c.469	CCDS2932.1	3	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972382	0.34848	.	.	ENSG00000080819	ENST00000264193	D	0.93247	-3.19	4.67	-2.15	0.07102	.	0.217340	0.53938	D	0.000053	D	0.92136	0.7507	M	0.72353	2.195	0.29955	N	0.819881	B;B	0.31274	0.317;0.062	B;B	0.41332	0.354;0.169	D	0.87585	0.2487	10	0.59425	D	0.04	-3.3096	9.9818	0.41817	0.0886:0.0:0.157:0.7543	.	157;157	B4DSD5;P36551	.;HEM6_HUMAN	V	157	ENSP00000264193:L157V	ENSP00000264193:L157V	L	-	1	2	CPOX	99794570	1.000000	0.71417	0.404000	0.26397	0.346000	0.29079	1.923000	0.40055	-0.672000	0.05266	-0.188000	0.12872	CTG	CPOX	-	pfam_Coprogen_oxidase_aer,superfamily_Coprogen_oxidase_aer	ENSG00000080819		0.657	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPOX	HGNC	protein_coding	OTTHUMT00000358900.1	-	0	67	0	G	NM_000097		98311880	-1	tier1	-	no_errors	ENST00000264193	ensembl	human	known	74_37	missense	15.00	153	27	SNP	0.999	C	C	98311880	G	C	98311880	3	2	131	1	0	0	0	0	1	0	0	0	3828	933	33	5	923	5	CPOX	3	98311880	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	10112594	98311880	99710550	34	33547											
PLS1	5357	genome.wustl.edu	37	chr3	142388241	142388241	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctttacagatattgacaAtagtgggtatgtcagtgact	12	15	9	5	0	2	3	1	2	1	1	2	3	2	3	0	1	1	1	0	1	6	7			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:142388241A>G	ENST00000337777.3	+	3	293	c.80A>G	c.(79-81)aAt>aGt	p.N27S	PLS1_ENST00000457734.2_Missense_Mutation_p.N27S|PLS1_ENST00000497002.1_Missense_Mutation_p.N27S	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	27	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GATATTGACAATAGTGGGTAT	0.378																																																	0													63	63	63					3																	142388241		2203	4300	6503	SO:0001583	missense	0			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.80A>G	3.37:g.142388241A>G	ENSP00000336831:p.Asn27Ser		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.N27S	ENST00000337777.3	37	c.80	CCDS3125.1	3	.	.	.	.	.	.	.	.	.	.	A	13.16	2.155355	0.38021	.	.	ENSG00000120756	ENST00000457734;ENST00000483373;ENST00000475296;ENST00000495744;ENST00000461644;ENST00000464320;ENST00000337777;ENST00000497199;ENST00000497002	T;T;T;T;T;T;T;T;T	0.72505	-0.66;2.92;-0.66;-0.14;-0.14;-0.66;-0.66;-0.14;-0.66	5.48	4.33	0.51752	EF-hand-like domain (1);	0.168998	0.64402	D	0.000006	T	0.54806	0.1881	L	0.28344	0.845	0.51482	D	0.999926	B	0.09022	0.002	B	0.10450	0.005	T	0.45026	-0.9289	10	0.16896	T	0.51	-12.6808	11.2953	0.49274	0.9284:0.0:0.0716:0.0	.	27	Q14651	PLSI_HUMAN	S	27	ENSP00000387890:N27S;ENSP00000419893:N27S;ENSP00000417311:N27S;ENSP00000419531:N27S;ENSP00000419271:N27S;ENSP00000418880:N27S;ENSP00000336831:N27S;ENSP00000417491:N27S;ENSP00000418700:N27S	ENSP00000336831:N27S	N	+	2	0	PLS1	143870931	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.780000	0.55386	1.017000	0.39495	0.477000	0.44152	AAT	PLS1	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000120756		0.378	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	-	0	41	0	A	NM_002670		142388241	1	tier1	-	no_errors	ENST00000337777	ensembl	human	known	74_37	missense	16.25	67	13	SNP	1.000	G	G	142388241	A	G	142388241	3	3	131	1	0	0	0	0	1	0	0	0	12146	101	4	4	86	4	PLS1	3	142388241	Missense_Mutation	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09	44076361	142388241	55634189	35	33548											
MED12L	116931	genome.wustl.edu	37	chr3	151112592	151112592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagttgatacagatgaaGcttctgcagcagcagcagca	13	7	11	10	0	1	3	0	2	1	1	1	3	1	3	0	0	8	8	0	0	2	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:151112592G>T	ENST00000474524.1	+	37	5690	c.5652G>T	c.(5650-5652)aaG>aaT	p.K1884N	MED12L_ENST00000273432.4_Missense_Mutation_p.K1744N	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1884	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)			TACAGATGAAGCTTCTGCAGC	0.537																																																	0													75	76	75					3																	151112592		2203	4300	6503	SO:0001583	missense	0			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.5652G>T	3.37:g.151112592G>T	ENSP00000417235:p.Lys1884Asn		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.K1884N	ENST00000474524.1	37	c.5652	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	11.67	1.709329	0.30322	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.60797	0.34;0.16	5.91	1.12	0.20585	Mediator complex, subunit Med12, catenin-binding (1);	0.436799	0.25906	N	0.027536	T	0.58495	0.2126	N	0.25647	0.755	0.38130	D	0.938137	D;D	0.62365	0.989;0.991	D;D	0.76071	0.978;0.987	T	0.60520	-0.7247	10	0.66056	D	0.02	-22.1223	7.9875	0.30220	0.4749:0.0:0.5251:0.0	.	1744;1884	F8WAE6;Q86YW9	.;MD12L_HUMAN	N	1884;1744	ENSP00000417235:K1884N;ENSP00000273432:K1744N	ENSP00000273432:K1744N	K	+	3	2	MED12L	152595282	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.711000	0.25764	0.421000	0.25980	-0.736000	0.03550	AAG	MED12L	-	pfam_Mediator_Med12_catenin-bd	ENSG00000144893		0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2		0	29	0	G	NM_053002		151112592	1			no_errors	ENST00000474524	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.998	T	T	151112592	G	T	151112592	3	4	131	1	0	0	0	0	1	0	0	0	9467	962	34	3	5798	3	MED12L	3	151112592	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	8724351	151112592	46909838	36	33549											
BCHE	590	genome.wustl.edu	37	chr3	165503943	165503943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacacacctgtcatttcCaagacttttggaaaaaatga	16	10	6	9	0	1	3	1	1	0	2	2	4	2	4	2	1	0	0	2	1	4	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:165503943C>T	ENST00000264381.3	-	3	1840	c.1674G>A	c.(1672-1674)ttG>ttA	p.L558L	BCHE_ENST00000540653.1_Silent_p.L20L	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	558					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CTGTCATTTCCAAGACTTTTG	0.358																																																	0													112	100	104					3																	165503943		2203	4299	6502	SO:0001819	synonymous_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1674G>A	3.37:g.165503943C>T			A8K7P8	Silent	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.L558	ENST00000264381.3	37	c.1674	CCDS3198.1	3																																																																																			BCHE	-	NULL	ENSG00000114200		0.358	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	-	0	56	0	C			165503943	-1	tier1	-	no_errors	ENST00000264381	ensembl	human	known	74_37	silent	23.70	103	32	SNP	1.000	T	T	165503943	C	T	165503943	2	4	131	1	0	0	0	0	0	0	0	1	1359	593	21	3		3	BCHE	3	165503943	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	14391351	165503943	32518487	37	33550											
C3orf59	151963	genome.wustl.edu	37	chr3	192635476	192635476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagcgctctctggtcgtCgtattcccgctggtcgtgct	2	13	11	15	5	1	0	0	0	1	0	7	0	3	0	2	2	2	4	2	2	1	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:192635476C>T	ENST00000392452.2	-	1	474	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	52							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CTCTGGTCGTCGTATTCCCGC	0.532																																																	0													139	118	125					3																	192635476		2203	4300	6503	SO:0001583	missense	0			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.154G>A	3.37:g.192635476C>T	ENSP00000376246:p.Asp52Asn		Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.D52N	ENST00000392452.2	37	c.154	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619419	0.87460	.	.	ENSG00000180611	ENST00000392452	T	0.47528	0.84	5.77	4.88	0.63580	.	0.057093	0.64402	D	0.000002	T	0.47340	0.1440	L	0.50333	1.59	0.58432	D	0.999995	D	0.61080	0.989	P	0.46917	0.531	T	0.40440	-0.9563	10	0.37606	T	0.19	.	13.988	0.64348	0.0:0.9251:0.0:0.0749	.	52	Q8IYB1	M21D2_HUMAN	N	52	ENSP00000376246:D52N	ENSP00000376246:D52N	D	-	1	0	MB21D2	194118170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.738000	0.62073	2.727000	0.93392	0.591000	0.81541	GAC	MB21D2	-	NULL	ENSG00000180611		0.532	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1		0	15	0	C	NM_178496		192635476	-1			no_errors	ENST00000392452	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	192635476	C	T	192635476	3	4	131	1	0	0	0	0	1	0	0	0	2244	884	31	1	1329	1	C3orf59	3	192635476	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	27131533	192635476	5386954	38	33551											
RGS12	6002	genome.wustl.edu	37	chr4	3419238	3419238	+	Frame_Shift_Del	DEL	A	A	-																															ggagcaccgggaggtcccagAaaaagagggagcacggggac																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:3419238delA	ENST00000344733.5	+	9	3635	c.2731delA	c.(2731-2733)aaafs	p.K912fs	RGS12_ENST00000538395.1_Frame_Shift_Del_p.K254fs|RGS12_ENST00000306648.7_Frame_Shift_Del_p.K310fs|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Frame_Shift_Del_p.K912fs|RGS12_ENST00000336727.3_Frame_Shift_Del_p.K912fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K264fs	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	912					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)		GAGGTCCCAGAAAAAGAGGGA	0.652																																																	0													44	44	44					4																	3419238		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2731delA	4.37:g.3419238delA	ENSP00000339381:p.Lys912fs		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.K912fs	ENST00000344733.5	37	c.2731	CCDS3366.1	4																																																																																			RGS12	-	NULL	ENSG00000159788		0.652	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1		0	67	0	A	NM_002926		3419238	1	tier1		no_errors	ENST00000344733	ensembl	human	known	74_37	frame_shift_del	9.76	37	4	DEL	1.000	-	-	3419238	A	-	3419238	7	5	131	1	0	1	0	1	0	0	0	0	13340	247	9	0	2819	0	RGS12	4	3419238	Frame_Shift_Del	DEL	A	TCGA-LN-A8I1-01A-11D-A36J-09		3419238	187735038	39	33552											
GABRA2	2555	genome.wustl.edu	37	chr4	46252353	46252353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacccctaatacaggttctCtgtttaaatatgtagcccag	11	13	7	10	0	1	1	0	1	1	0	2	1	1	1	3	1	2	3	3	1	6	7	rs200987678		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:46252353C>T	ENST00000510861.1	-	10	1501	c.1328G>A	c.(1327-1329)aGa>aAa	p.R443K	GABRA2_ENST00000507069.1_Missense_Mutation_p.R503K|GABRA2_ENST00000514090.1_Missense_Mutation_p.R443K|GABRA2_ENST00000381620.4_Missense_Mutation_p.R443K|GABRA2_ENST00000356504.1_Missense_Mutation_p.R443K|GABRA2_ENST00000540012.1_Missense_Mutation_p.R448K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	443					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)	p.R443K(1)		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)	TACAGGTTCTCTGTTTAAATA	0.348																																																	1	Substitution - Missense(1)	lung(1)											80	86	84					4																	46252353		2202	4294	6496	SO:0001583	missense	0				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.1328G>A	4.37:g.46252353C>T	ENSP00000421828:p.Arg443Lys		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R448K	ENST00000510861.1	37	c.1343	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376479	0.42105	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;T	0.84070	-1.8;-1.8;-1.8;-1.8;-1.56;-0.5	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	N	0.26130	0.795	0.58432	D	0.999998	B;B	0.31599	0.33;0.018	B;B	0.28784	0.094;0.015	T	0.70135	-0.4955	10	0.19590	T	0.45	.	19.1413	0.93446	0.0:1.0:0.0:0.0	.	448;443	B7Z1H8;P47869	.;GBRA2_HUMAN	K	443;443;443;443;448;503	ENSP00000421828:R443K;ENSP00000421300:R443K;ENSP00000371033:R443K;ENSP00000348897:R443K;ENSP00000444409:R448K;ENSP00000427603:R503K	ENSP00000348897:R443K	R	-	2	0	GABRA2	45947110	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.087000	0.71362	2.767000	0.95098	0.655000	0.94253	AGA	GABRA2	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt	ENSG00000151834		0.348	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	-	0	72	0	C			46252353	-1	tier1	rs200987678	no_errors	ENST00000540012	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	T	T	46252353	C	T	46252353	3	4	131	1	0	0	0	0	1	0	0	0	6185	913	32	3	31	3	GABRA2	4	46252353	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	42833115	46252353	144901923	40	33553											
SPATA18	132671	genome.wustl.edu	37	chr4	52943092	52943092	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggcgcgcaaggctgccctCttgtcccggttcagcgattc	4	10	13	14	4	2	0	1	0	1	0	4	1	3	0	2	3	2	3	2	3	1	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:52943092C>T	ENST00000295213.4	+	7	1280	c.906C>T	c.(904-906)ctC>ctT	p.L302L	SPATA18_ENST00000419395.2_Silent_p.L270L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	302	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGGCTGCCCTCTTGTCCCGGT	0.647																																																	0													62	48	53					4																	52943092		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.906C>T	4.37:g.52943092C>T			B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	NULL	p.L302	ENST00000295213.4	37	c.906	CCDS3489.1	4																																																																																			SPATA18	-	NULL	ENSG00000163071		0.647	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA18	HGNC	protein_coding	OTTHUMT00000250597.2	-	0	49	0	C	NM_145263		52943092	1	tier1	-	no_errors	ENST00000295213	ensembl	human	known	74_37	silent	26.09	68	24	SNP	0.990	T	T	52943092	C	T	52943092	2	4	131	1	0	0	0	0	0	0	0	1	15050	900	32	3		3	SPATA18	4	52943092	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	6690739	52943092	138211184	41	33554											
MANBA	4126	genome.wustl.edu	37	chr4	103571709	103571709	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgagtaaggtagatGgtatctttaaatgtgcgtaa	12	14	10	5	1	1	2	0	1	1	1	1	2	1	2	1	2	2	4	1	2	7	7			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:103571709G>T	ENST00000226578.4	-	13	1953	c.1854C>A	c.(1852-1854)acC>acA	p.T618T	MANBA_ENST00000505239.1_Silent_p.T561T	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	618					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TAAGGTAGATGGTATCTTTAA	0.373																																																	0													225	222	223					4																	103571709		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1854C>A	4.37:g.103571709G>T			Q96BC3|Q9NYX9	Silent	SNP	pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like	p.T618	ENST00000226578.4	37	c.1854	CCDS3658.1	4																																																																																			MANBA	-	superfamily_Glycoside_hydrolase_SF	ENSG00000109323		0.373	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MANBA	HGNC	protein_coding	OTTHUMT00000253803.2	-	0	76	0	G			103571709	-1	tier1	-	no_errors	ENST00000226578	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.312	T	T	103571709	G	T	103571709	2	4	131	1	0	0	0	0	0	0	0	1	9257	1335	47	3		3	MANBA	4	103571709	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	50628617	103571709	87582567	42	33555											
NPNT	255743	genome.wustl.edu	37	chr4	106861271	106861271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagagcctcctgccctaGatttaggcaatgtgtcaaca	12	9	10	10	0	1	2	1	0	0	2	2	3	2	3	3	2	3	1	3	2	5	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:106861271G>T	ENST00000379987.2	+	6	761	c.545G>T	c.(544-546)aGa>aTa	p.R182I	NPNT_ENST00000506666.1_Missense_Mutation_p.R212I|NPNT_ENST00000305572.8_Missense_Mutation_p.R182I|NPNT_ENST00000427316.2_Missense_Mutation_p.R212I|NPNT_ENST00000453617.2_Missense_Mutation_p.R199I|NPNT_ENST00000514622.1_Missense_Mutation_p.R182I	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	182	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|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)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TCCTGCCCTAGATTTAGGCAA	0.403																																																	0													174	149	158					4																	106861271		2203	4300	6503	SO:0001583	missense	0				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.545G>T	4.37:g.106861271G>T	ENSP00000369323:p.Arg182Ile		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.R182I	ENST00000379987.2	37	c.545	CCDS34046.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.36|13.36	2.214096|2.214096	0.39102|0.39102	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	D;D;D;D;D;D;D|.	0.92446|.	-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04|.	5.44|5.44	4.58|4.58	0.56647|0.56647	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.045662|.	0.85682|.	D|.	0.000000|.	T|.	0.49372|.	0.1553|.	N|N	0.17345|0.17345	0.48|0.48	0.37752|0.37752	D|D	0.926021|0.926021	D;D;B;D;B;D;D|.	0.76494|.	0.996;0.971;0.392;0.998;0.392;0.999;0.993|.	D;D;P;D;B;D;D|.	0.75484|.	0.934;0.925;0.47;0.986;0.355;0.984;0.949|.	T|.	0.50996|.	-0.8761|.	10|.	0.22109|.	T|.	0.4|.	.|.	16.0491|16.0491	0.80744|0.80744	0.0:0.1346:0.8654:0.0|0.0:0.1346:0.8654:0.0	.|.	182;212;212;199;229;182;182|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	I|Y	182;199;212;182;182;212;229|158	ENSP00000369323:R182I;ENSP00000402884:R199I;ENSP00000389252:R212I;ENSP00000422044:R182I;ENSP00000302557:R182I;ENSP00000422474:R212I;ENSP00000426146:R229I|.	ENSP00000302557:R182I|.	R|X	+|+	2|3	0|2	NPNT|NPNT	107080720|107080720	0.450000|0.450000	0.25697|0.25697	0.004000|0.004000	0.12327|0.12327	0.008000|0.008000	0.06430|0.06430	2.946000|2.946000	0.49050|0.49050	1.247000|1.247000	0.43917|0.43917	0.655000|0.655000	0.94253|0.94253	AGA|TAG	NPNT	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000168743		0.403	NPNT-001	KNOWN	basic|CCDS	protein_coding	NPNT	HGNC	protein_coding	OTTHUMT00000364083.1	-	0	51	0	G	NM_198278		106861271	1	tier1	-	no_errors	ENST00000379987	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.238	T	T	106861271	G	T	106861271	3	4	131	1	0	0	0	0	1	0	0	0	10629	942	33	3	716	3	NPNT	4	106861271	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	3289562	106861271	84293005	43	33556											
TMEM155	132332	genome.wustl.edu	37	chr4	122682832	122682832	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccagatggcatcagttCtgcatctacagctgtgccct	8	10	9	14	1	3	1	1	0	2	1	3	1	3	1	2	1	4	5	2	1	1	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:122682832C>A	ENST00000337677.5	-	5	631	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	TMEM155_ENST00000394394.1_Nonsense_Mutation_p.E25*|AC079341.1_ENST00000424958.1_5'Flank|TMEM155_ENST00000394396.1_Nonsense_Mutation_p.E25*	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	25						extracellular region (GO:0005576)		p.E25*(1)		breast(1)|lung(5)	6						GGCATCAGTTCTGCATCTACA	0.413																																																	1	Substitution - Nonsense(1)	lung(1)											73	73	73					4																	122682832		2203	4300	6503	SO:0001587	stop_gained	0			AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.73G>T	4.37:g.122682832C>A	ENSP00000336987:p.Glu25*		D3DNW9|Q96NI2	Nonsense_Mutation	SNP	NULL	p.E25*	ENST00000337677.5	37	c.73	CCDS3721.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.881532	0.97062	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394;ENST00000514885	.	.	.	5.63	4.77	0.60923	.	0.370695	0.19687	N	0.108374	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.206	11.0976	0.48155	0.0:0.9105:0.0:0.0895	.	.	.	.	X	25	.	ENSP00000336987:E25X	E	-	1	0	TMEM155	122902282	0.998000	0.40836	0.622000	0.29159	0.991000	0.79684	1.969000	0.40510	2.824000	0.97209	0.655000	0.94253	GAA	TMEM155	-	NULL	ENSG00000164112		0.413	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM155	HGNC	protein_coding	OTTHUMT00000256637.2		0	31	0	C	NM_152399		122682832	-1			no_errors	ENST00000337677	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	0.593	A	A	122682832	C	A	122682832	4	1	131	1	0	0	0	0	0	1	0	0	16119	922	32	3	327	3	TMEM155	4	122682832	Nonsense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	15821561	122682832	68471444	44	33557											
IL15	3600	genome.wustl.edu	37	chr4	142651093	142651093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtattcatgatacagtaGaaaatctgatcatcctagca	16	11	6	8	0	3	3	2	2	1	1	4	3	4	3	1	0	2	3	1	0	7	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:142651093G>C	ENST00000296545.7	+	7	1178	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	IL15_ENST00000477265.1_Missense_Mutation_p.E85Q|IL15_ENST00000514653.1_Missense_Mutation_p.E85Q|IL15_ENST00000394159.1_Missense_Mutation_p.E85Q|IL15_ENST00000320650.4_Missense_Mutation_p.E112Q|IL15_ENST00000529613.1_Missense_Mutation_p.E112Q			P40933	IL15_HUMAN	interleukin 15	112					aging (GO:0007568)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|cellular response to vitamin D (GO:0071305)|extrathymic T cell selection (GO:0045062)|hyaluronan metabolic process (GO:0030212)|immune response (GO:0006955)|inflammatory response (GO:0006954)|lymph node development (GO:0048535)|natural killer cell differentiation (GO:0001779)|negative regulation of smooth muscle cell proliferation (GO:0048662)|NK T cell proliferation (GO:0001866)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immune response (GO:0050778)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of defense response to virus by host (GO:0050691)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					TGATACAGTAGAAAATCTGAT	0.388																																					Pancreas(10;184 986 25902)												0													118	118	118					4																	142651093		2203	4299	6502	SO:0001583	missense	0			U14407	CCDS3755.1, CCDS3756.1	4q31	2011-07-14			ENSG00000164136	ENSG00000164136		"Interleukins and interleukin receptors"	5977	protein-coding gene	gene with protein product		600554				8178155	Standard	NM_000585		Approved	IL-15, MGC9721	uc003iis.3	P40933	OTTHUMG00000133418	ENST00000296545.7:c.334G>C	4.37:g.142651093G>C	ENSP00000296545:p.Glu112Gln		D3DNZ2|O00440|O43512|Q495Z8|Q6FGX7|Q93058|Q9UBA3	Missense_Mutation	SNP	pfam_IL-15/IL-21_fam,prints_IL-15_mml,prints_IL-15	p.E112Q	ENST00000296545.7	37	c.334	CCDS3755.1	4	.	.	.	.	.	.	.	.	.	.	G	5.121	0.207901	0.09704	.	.	ENSG00000164136	ENST00000320650;ENST00000296545;ENST00000514653;ENST00000529613;ENST00000477265;ENST00000394159	.	.	.	5.49	1.05	0.20165	.	0.620634	0.16246	N	0.222904	T	0.27967	0.0689	L	0.43701	1.375	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.16689	-1.0394	9	0.38643	T	0.18	-2.3285	2.4728	0.04568	0.1163:0.3876:0.325:0.1711	.	112	P40933	IL15_HUMAN	Q	112;112;85;112;85;85	.	ENSP00000296545:E112Q	E	+	1	0	IL15	142870543	0.063000	0.20901	0.050000	0.19076	0.017000	0.09413	-0.116000	0.10724	0.239000	0.21243	0.650000	0.86243	GAA	IL15	-	pfam_IL-15/IL-21_fam	ENSG00000164136		0.388	IL15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL15	HGNC	protein_coding	OTTHUMT00000257278.2	-	0	68	0	G	NM_172175		142651093	1	tier1	-	no_errors	ENST00000296545	ensembl	human	known	74_37	missense	15.48	71	13	SNP	0.033	C	C	142651093	G	C	142651093	3	2	131	1	0	0	0	0	1	0	0	0	7658	943	33	5	352	5	IL15	4	142651093	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	19968261	142651093	48503183	45	33558											
LRBA	987	genome.wustl.edu	37	chr4	151771892	151771892	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaccttctccacatctgtaTatctgtttctattgaaaata	13	16	3	9	0	4	1	0	1	4	0	5	1	4	1	2	0	1	2	2	0	7	7			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:151771892T>C	ENST00000357115.3	-	24	4231	c.3988A>G	c.(3988-3990)Ata>Gta	p.I1330V	LRBA_ENST00000510413.1_Missense_Mutation_p.I1330V|LRBA_ENST00000535741.1_Missense_Mutation_p.I1330V|LRBA_ENST00000507224.1_Missense_Mutation_p.I1330V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1330						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)					CACATCTGTATATCTGTTTCT	0.333																																																	0													88	87	87					4																	151771892		2203	4300	6503	SO:0001583	missense	0			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.3988A>G	4.37:g.151771892T>C	ENSP00000349629:p.Ile1330Val		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.I1330V	ENST00000357115.3	37	c.3988	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	T	4.805	0.149584	0.09185	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.54279	0.98;1.13;0.98;0.58	5.97	5.97	0.96955	.	0.054186	0.64402	D	0.000001	T	0.35219	0.0924	N	0.20483	0.58	0.46874	D	0.999238	B;B	0.14012	0.009;0.009	B;B	0.16722	0.007;0.016	T	0.22243	-1.0222	10	0.12103	T	0.63	.	11.4724	0.50278	0.0:0.0695:0.0:0.9305	.	1330;1330	P50851;P50851-2	LRBA_HUMAN;.	V	1330	ENSP00000446299:I1330V;ENSP00000421552:I1330V;ENSP00000349629:I1330V;ENSP00000422180:I1330V	ENSP00000349629:I1330V	I	-	1	0	LRBA	151991342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.509000	0.53386	2.287000	0.76781	0.482000	0.46254	ATA	LRBA	-	NULL	ENSG00000198589		0.333	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0	38	0	T			151771892	-1	tier1	-	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	21.05	30	8	SNP	1.000	C	C	151771892	T	C	151771892	3	2	131	1	0	0	0	0	1	0	0	0	8966	1406	49	4	4743	4	LRBA	4	151771892	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	9120799	151771892	39382384	46	33559											
FSTL5	56884	genome.wustl.edu	37	chr4	162307332	162307332	+	Missense_Mutation	SNP	T	T	A	0	1	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	cattaatgctgacaaggtagTggccatctggagagacatat	13	10	11	7	0	1	2	0	1	1	1	1	4	1	3	1	3	1	2	1	3	4	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:162307332T>A	ENST00000306100.5	-	16	2547	c.2111A>T	c.(2110-2112)cAc>cTc	p.H704L	FSTL5_ENST00000536695.1_Missense_Mutation_p.H703L|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.H694L|FSTL5_ENST00000379164.4_Missense_Mutation_p.H703L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	704						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)		GACAAGGTAGTGGCCATCTGG	0.453																																																	0													120	110	113					4																	162307332		2203	4300	6503	SO:0001583	missense	0			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.2111A>T	4.37:g.162307332T>A	ENSP00000305334:p.His704Leu		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.H704L	ENST00000306100.5	37	c.2111	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548701	0.65311	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);	0.097634	0.64402	D	0.000001	T	0.38188	0.1031	M	0.70275	2.135	0.80722	D	1	P;P;P	0.41420	0.749;0.696;0.749	B;B;B	0.40602	0.334;0.268;0.269	T	0.37641	-0.9697	10	0.72032	D	0.01	.	15.1464	0.72657	0.0:0.0:0.0:1.0	.	694;703;704	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	L	704;703;694;703	ENSP00000305334:H704L;ENSP00000368462:H703L;ENSP00000389270:H694L;ENSP00000440409:H703L	ENSP00000305334:H704L	H	-	2	0	FSTL5	162526782	1.000000	0.71417	0.972000	0.41901	0.981000	0.71138	2.433000	0.44793	2.176000	0.68965	0.533000	0.62120	CAC	FSTL5	-	NULL	ENSG00000168843		0.453	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	-	0	31	0	T	NM_020116		162307332	-1	tier1	-	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	48.78	21	20	SNP	1.000	A	A	162307332	T	A	162307332	3	1	131	1	0	0	0	0	1	0	0	0	6104	1696	59	5	436	5	FSTL5	4	162307332	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	10535440	162307332	28846944	47	33560											
FAT1	2195	genome.wustl.edu	37	chr4	187628047	187628047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcctaactgctccactgaGtttatccacatcgaagtttc	10	13	6	12	1	0	1	0	1	0	0	5	3	3	1	3	0	2	3	3	0	3	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:187628047G>T	ENST00000441802.2	-	2	3144	c.2935C>A	c.(2935-2937)Ctc>Atc	p.L979I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	979	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						GCTCCACTGAGTTTATCCACA	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													152	148	149					4																	187628047		1939	4140	6079	SO:0001583	missense	0			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.2935C>A	4.37:g.187628047G>T	ENSP00000406229:p.Leu979Ile			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.L979I	ENST00000441802.2	37	c.2935	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	6.413	0.444282	0.12164	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.51574	0.7	4.67	4.67	0.58626	Cadherin (5);Cadherin-like (1);	0.147380	0.45361	D	0.000378	T	0.33089	0.0851	N	0.16790	0.44	0.50813	D	0.999891	P	0.39376	0.67	B	0.42771	0.397	T	0.04961	-1.0915	10	0.20046	T	0.44	.	10.4529	0.44533	0.0:0.1435:0.7082:0.1483	.	979	Q14517	FAT1_HUMAN	I	979	ENSP00000406229:L979I	ENSP00000260147:L979I	L	-	1	0	FAT1	187865041	1.000000	0.71417	0.993000	0.49108	0.010000	0.07245	3.107000	0.50329	2.579000	0.87056	0.491000	0.48974	CTC	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000083857		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3		0	42	0	G	NM_005245		187628047	-1			no_errors	ENST00000441802	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.998	T	T	187628047	G	T	187628047	3	4	131	1	0	0	0	0	1	0	0	0	5711	1029	36	3	10935	3	FAT1	4	187628047	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	25320715	187628047	3526229	48	33561											
SLC6A3	6531	genome.wustl.edu	37	chr5	1422077	1422077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgtgagctgccaccgcgGaggccccaggtcgtcgatgc	5	6	16	14	4	0	1	0	1	0	0	2	3	0	2	4	4	3	2	4	4	0	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:1422077G>A	ENST00000270349.9	-	5	833	c.706C>T	c.(706-708)Ccg>Tcg	p.P236S	SLC6A3_ENST00000453492.2_Missense_Mutation_p.P236S	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	236					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGCCACCGCGGAGGCCCCAGG	0.662																																																	0													74	70	71					5																	1422077		2202	4300	6502	SO:0001583	missense	0				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.706C>T	5.37:g.1422077G>A	ENSP00000270349:p.Pro236Ser		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.P236S	ENST00000270349.9	37	c.706	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052666	0.75960	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.74002	-0.8;-0.8;-0.8	4.4	4.4	0.53042	.	0.125660	0.53938	D	0.000046	D	0.89136	0.6629	M	0.93808	3.46	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.91862	0.5500	10	0.66056	D	0.02	.	14.8325	0.70159	0.0:0.0:1.0:0.0	.	236	Q01959	SC6A3_HUMAN	S	236;236;162	ENSP00000270349:P236S;ENSP00000399806:P236S;ENSP00000429101:P162S	ENSP00000270349:P236S	P	-	1	0	SLC6A3	1475077	1.000000	0.71417	0.958000	0.39756	0.890000	0.51754	7.041000	0.76558	2.145000	0.66743	0.462000	0.41574	CCG	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000142319		0.662	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	-	0	38	0	G	NM_001044		1422077	-1	tier1	-	no_errors	ENST00000270349	ensembl	human	known	74_37	missense	24.11	85	27	SNP	0.966	A	A	1422077	G	A	1422077	3	1	131	1	0	0	0	0	1	0	0	0	14730	1174	41	3	1200	3	SLC6A3	5	1422077	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		1422077	179493183	49	33562											
CTNND2	1501	genome.wustl.edu	37	chr5	10981940	10981940	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaattcctatacaaagttGaaattccagtgttttgagct	14	14	7	6	0	0	3	0	2	0	1	2	3	2	3	2	0	2	3	2	0	6	7			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:10981940G>T	ENST00000304623.8	-	21	3551	c.3362C>A	c.(3361-3363)tCa>tAa	p.S1121*	CTNND2_ENST00000458100.2_Nonsense_Mutation_p.S688*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.S1030*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.S1063*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.S784*|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1121					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATACAAAGTTGAAATTCCAGT	0.348																																																	0													128	127	127					5																	10981940		2203	4300	6503	SO:0001587	stop_gained	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3362C>A	5.37:g.10981940G>T	ENSP00000307134:p.Ser1121*		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S1121*	ENST00000304623.8	37	c.3362	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	G	46	12.268612	0.99652	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-10.3697	20.5792	0.99380	0.0:0.0:1.0:0.0	.	.	.	.	X	1121;1063;1030;216;688;784	.	ENSP00000307134:S1121X	S	-	2	0	CTNND2	11034940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.257000	0.95545	2.873000	0.98535	0.561000	0.74099	TCA	CTNND2	-	NULL	ENSG00000169862		0.348	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	-	0	56	0	G	NM_001332		10981940	-1	tier1	-	no_errors	ENST00000304623	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	1.000	T	T	10981940	G	T	10981940	4	4	131	1	0	0	0	0	0	1	0	0	4029	1294	45	3	323	3	CTNND2	5	10981940	Nonsense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	9559863	10981940	169933320	50	33563											
RANBP3L	202151	genome.wustl.edu	37	chr5	36253802	36253802	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaatcagtagctgttattcGtacatttttgtggtttgctc	8	19	8	6	1	1	0	1	0	0	0	3	0	1	0	0	1	3	6	0	1	5	8	rs375516541	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:36253802G>A	ENST00000296604.3	-	12	1599	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.R397*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	372	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GCTGTTATTCGTACATTTTTG	0.343													G|||	2	0.000399361	0	0	5008	,	,		17021	0		0	False		,,,				2504	0.002																0								G	stop/ARG,stop/ARG	0,4406		0,0,2203	176	161	166		1189,1114	2.4	0.9	5		166	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained	RANBP3L	NM_001161429.1,NM_145000.3	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	397/491,372/466	36253802	1,13003	2203	4299	6502	SO:0001587	stop_gained	0			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.1114C>T	5.37:g.36253802G>A	ENSP00000296604:p.Arg372*		B7Z866|E9PGP9|Q96LK2	Nonsense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.R372*	ENST00000296604.3	37	c.1114	CCDS3918.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.511014	0.98843	0.0	1.16E-4	ENSG00000164188	ENST00000296604;ENST00000502994	.	.	.	5.18	2.36	0.29203	.	0.608545	0.15537	N	0.257162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1002	5.7304	0.18036	0.1514:0.0:0.571:0.2776	.	.	.	.	X	372;397	.	ENSP00000296604:R372X	R	-	1	2	RANBP3L	36289559	1.000000	0.71417	0.894000	0.35097	0.984000	0.73092	3.072000	0.50049	0.265000	0.21872	-0.270000	0.10280	CGA	RANBP3L	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000164188		0.343	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RANBP3L	HGNC	protein_coding	OTTHUMT00000253773.2	-	0	91	0	G	NM_145000		36253802	-1	tier1	-	no_errors	ENST00000296604	ensembl	human	known	74_37	nonsense	43.72	103	80	SNP	0.990	A	A	36253802	G	A	36253802	4	1	131	1	0	0	0	0	0	1	0	0	13075	1153	40	1	295	1	RANBP3L	5	36253802	Nonsense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	25271862	36253802	144661458	51	33564											
MAP1B	4131	genome.wustl.edu	37	chr5	71479594	71479594	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aaagatccttcatcaccgaaGtgacgttttagaaacagtgg	14	10	9	8	2	2	3	2	1	0	2	3	4	3	3	2	1	1	1	2	1	4	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:71479594G>T	ENST00000296755.7	+	3	609	c.311G>T	c.(310-312)aGt>aTt	p.S104I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	104					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)		CATCACCGAAGTGACGTTTTA	0.498																																					Melanoma(17;367 822 11631 31730 47712)												0													149	140	143					5																	71479594		2203	4300	6503	SO:0001583	missense	0			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.311G>T	5.37:g.71479594G>T	ENSP00000296755:p.Ser104Ile		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.S104I	ENST00000296755.7	37	c.311	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043710	0.93685	.	.	ENSG00000131711	ENST00000512974;ENST00000296755;ENST00000511641	T;T;T	0.38560	3.61;1.13;1.13	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70676	-0.4806	10	0.87932	D	0	-9.1564	18.9656	0.92695	0.0:0.0:1.0:0.0	.	104	P46821	MAP1B_HUMAN	I	104	ENSP00000426312:S104I;ENSP00000296755:S104I;ENSP00000423444:S104I	ENSP00000296755:S104I	S	+	2	0	MAP1B	71515350	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.231000	0.95317	2.543000	0.85770	0.637000	0.83480	AGT	MAP1B	-	NULL	ENSG00000131711		0.498	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0	57	0	G	NM_005909		71479594	1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	71479594	G	T	71479594	3	4	131	1	0	0	0	0	1	0	0	0	9266	1029	36	3	321	3	MAP1B	5	71479594	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	35225792	71479594	109435666	52	33565											
CMYA5	202333	genome.wustl.edu	37	chr5	79029332	79029332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atttagcatcaggtttagccCcaacattactgctcctcagt	10	13	6	12	0	2	0	2	0	0	0	3	0	3	0	3	1	5	3	3	1	4	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:79029332C>T	ENST00000446378.2	+	2	4775	c.4744C>T	c.(4744-4746)Cca>Tca	p.P1582S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1582					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)		AGGTTTAGCCCCAACATTACT	0.423																																																	0													132	133	133					5																	79029332		1898	4128	6026	SO:0001583	missense	0			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.4744C>T	5.37:g.79029332C>T	ENSP00000394770:p.Pro1582Ser		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.P1582S	ENST00000446378.2	37	c.4744	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625782	0.46840	.	.	ENSG00000164309	ENST00000446378	T	0.09723	2.95	5.78	0.137	0.14787	.	1.305950	0.05066	N	0.480804	T	0.06645	0.0170	L	0.34521	1.04	0.09310	N	1	B	0.24721	0.11	B	0.17979	0.02	T	0.36529	-0.9744	10	0.09084	T	0.74	.	1.6675	0.02805	0.1397:0.4653:0.1364:0.2587	.	1582	Q8N3K9	CMYA5_HUMAN	S	1582	ENSP00000394770:P1582S	ENSP00000394770:P1582S	P	+	1	0	CMYA5	79065088	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.268000	0.08607	0.322000	0.23283	0.655000	0.94253	CCA	CMYA5	-	NULL	ENSG00000164309		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1		0	38	0	C	NM_153610		79029332	1			no_errors	ENST00000446378	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.000	T	T	79029332	C	T	79029332	3	4	131	1	0	0	0	0	1	0	0	0	3597	623	22	3	4750	3	CMYA5	5	79029332	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	7549738	79029332	101885928	53	33566											
PCDHA13	56136	genome.wustl.edu	37	chr5	140262071	140262071	+	Missense_Mutation	SNP	A	A	G	1	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	ggcgtccaaaagacacggggAccttctggaggtaaatctgc	11	7	13	10	2	2	1	0	0	2	1	3	3	3	3	2	5	1	1	2	5	4	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:140262071A>G	ENST00000289272.2	+	1	218	c.218A>G	c.(217-219)gAc>gGc	p.D73G	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D73G|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	73	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(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)			AGACACGGGGACCTTCTGGAG	0.622																																					Melanoma(147;1739 1852 5500 27947 37288)												0													66	77	73					5																	140262071		2202	4293	6495	SO:0001583	missense	0			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.218A>G	5.37:g.140262071A>G	ENSP00000289272:p.Asp73Gly		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D73G	ENST00000289272.2	37	c.218	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	A	11.09	1.536008	0.27475	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.27557	1.66;1.66	5.54	5.54	0.83059	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47377	0.1442	M	0.79926	2.475	0.19300	N	0.999976	B;B;B	0.21452	0.017;0.039;0.056	B;B;B	0.37198	0.085;0.243;0.114	T	0.47497	-0.9113	9	0.59425	D	0.04	.	15.3906	0.74741	1.0:0.0:0.0:0.0	.	73;73;73	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	G	73	ENSP00000386821:D73G;ENSP00000289272:D73G	ENSP00000289272:D73G	D	+	2	0	PCDHA13	140242255	0.000000	0.05858	0.995000	0.50966	0.616000	0.37450	0.345000	0.19979	2.114000	0.64651	0.454000	0.30748	GAC	PCDHA13	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000239389		0.622	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0	89	0	A	NM_018904		140262071	1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	26.51	121	44	SNP	0.438	G	G	140262071	A	G	140262071	3	3	131	1	0	0	0	0	1	0	0	0	11562	275	10	4	220	4	PCDHA13	5	140262071	Missense_Mutation	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09	61232739	140262071	40653189	54	33567			1	35		3	3	1380	N	T_C_A	4.511746e-05
PCDHA13	56136	genome.wustl.edu	37	chr5	140263363	140263363	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ggcgggtgggcgagcgtgcgCtgtcgagctacgtgtcggtg	3	8	21	9	7	0	0	0	0	0	0	2	2	0	0	0	4	4	2	0	4	1	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:140263363C>G	ENST00000289272.2	+	1	1510	c.1510C>G	c.(1510-1512)Ctg>Gtg	p.L504V	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.L504V|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(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)			CGAGCGTGCGCTGTCGAGCTA	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)												0													63	63	63					5																	140263363		2203	4299	6502	SO:0001583	missense	0			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.1510C>G	5.37:g.140263363C>G	ENSP00000289272:p.Leu504Val		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L504V	ENST00000289272.2	37	c.1510	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	8.166	0.790519	0.16258	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.50813	0.73;0.78	4.62	2.78	0.32641	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42585	0.1209	N	0.20445	0.575	0.23435	N	0.997685	P;P;P	0.51449	0.945;0.945;0.675	P;P;B	0.59424	0.857;0.563;0.307	T	0.17531	-1.0366	9	0.23302	T	0.38	.	4.6127	0.12411	0.1554:0.6087:0.1507:0.0852	.	504;504;504	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	504	ENSP00000386821:L504V;ENSP00000289272:L504V	ENSP00000289272:L504V	L	+	1	2	PCDHA13	140243547	0.000000	0.05858	0.918000	0.36340	0.806000	0.45545	-0.799000	0.04560	0.522000	0.28464	0.556000	0.70494	CTG	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000239389		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0	88	0	C	NM_018904		140263363	1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	21.94	120	34	SNP	0.982	G	G	140263363	C	G	140263363	3	3	131	1	0	0	0	0	1	0	0	0	11562	796	28	5	1512	5	PCDHA13	5	140263363	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	1292	140263363	40651897	55	33568			1	35		3	3	1380	N	T_C_A	4.511746e-05
PCDHA13	56136	genome.wustl.edu	37	chr5	140263450	140263450	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagctggagctgttgcagTtccaggtgagcgcgcgcgac	7	7	17	10	4	0	1	0	1	0	0	1	4	1	3	1	3	4	5	1	3	0	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:140263450T>G	ENST00000289272.2	+	1	1597	c.1597T>G	c.(1597-1599)Ttc>Gtc	p.F533V	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.F533V|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	533	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(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)			GCTGTTGCAGTTCCAGGTGAG	0.677																																					Melanoma(147;1739 1852 5500 27947 37288)												0													76	82	80					5																	140263450		2203	4299	6502	SO:0001583	missense	0			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.1597T>G	5.37:g.140263450T>G	ENSP00000289272:p.Phe533Val		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F533V	ENST00000289272.2	37	c.1597	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059965	0.36373	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.48836	0.8;0.8	4.54	3.33	0.38152	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.54775	0.1879	L	0.46157	1.445	0.24179	N	0.995594	P;P;B	0.39443	0.674;0.674;0.279	P;B;B	0.53861	0.736;0.411;0.258	T	0.44251	-0.9340	9	0.34782	T	0.22	.	10.5797	0.45248	0.0:0.0:0.3061:0.6939	.	533;533;533	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	533	ENSP00000386821:F533V;ENSP00000289272:F533V	ENSP00000289272:F533V	F	+	1	0	PCDHA13	140243634	0.925000	0.31364	0.992000	0.48379	0.967000	0.64934	0.546000	0.23284	0.714000	0.32081	0.459000	0.35465	TTC	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000239389		0.677	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0	108	0	T	NM_018904		140263450	1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	21.43	176	48	SNP	0.997	G	G	140263450	T	G	140263450	3	3	131	1	0	0	0	0	1	0	0	0	11562	1725	60	4	1599	4	PCDHA13	5	140263450	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	87	140263450	40651810	56	33569			1	35		3	3	1380	N	T_C_A	4.511746e-05
PCDH1	5097	genome.wustl.edu	37	chr5	141248589	141248589	+	Frame_Shift_Del	DEL	G	G	-																															tatctggccctctagcagccGggggctgccattctgcacga																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:141248589delG	ENST00000394536.3	-	2	587	c.448delC	c.(448-450)cggfs	p.R150fs	PCDH1_ENST00000536585.1_Frame_Shift_Del_p.R128fs|PCDH1_ENST00000456271.1_Frame_Shift_Del_p.R150fs|PCDH1_ENST00000503492.1_Frame_Shift_Del_p.R150fs|PCDH1_ENST00000287008.3_Frame_Shift_Del_p.R150fs|PCDH1_ENST00000511044.1_5'Flank	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	150	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		TCTAGCAGCCGGGGGCTGCCA	0.552																																					Ovarian(132;1609 1739 4190 14731 45037)												0													173	173	173					5																	141248589		2203	4300	6503	SO:0001589	frameshift_variant	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.448delC	5.37:g.141248589delG	ENSP00000378043:p.Arg150fs		Q8IUP2	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R150fs	ENST00000394536.3	37	c.448	CCDS43375.1	5																																																																																			PCDH1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000156453		0.552	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1		0	20	0	G	NM_032420		141248589	-1	tier1		no_errors	ENST00000287008	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	1.000	-	-	141248589	G	-	141248589	7	5	131	1	0	1	0	1	0	0	0	0	11545	1115	39	0	3365	0	PCDH1	5	141248589	Frame_Shift_Del	DEL	G	TCGA-LN-A8I1-01A-11D-A36J-09	985139	141248589	39666671	57	33570											
SH3TC2	79628	genome.wustl.edu	37	chr5	148407158	148407158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtgttctggaggacaaGgtggacctgccaaataggaa	11	9	15	6	0	1	0	0	0	1	0	1	4	1	4	2	6	1	2	2	6	4	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:148407158G>T	ENST00000515425.1	-	11	2238	c.2137C>A	c.(2137-2139)Ctt>Att	p.L713I	SH3TC2_ENST00000512049.1_Missense_Mutation_p.L706I|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.L260I|SH3TC2_ENST00000394358.2_Missense_Mutation_p.L598I	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	713					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)			TGGAGGACAAGGTGGACCTGC	0.547																																																	0													101	103	102					5																	148407158		2203	4300	6503	SO:0001583	missense	0			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.2137C>A	5.37:g.148407158G>T	ENSP00000423660:p.Leu713Ile		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.L713I	ENST00000515425.1	37	c.2137	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956169	0.34565	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	6.16	2.0	0.26442	.	0.083509	0.49305	D	0.000152	T	0.74520	0.3727	M	0.67700	2.07	0.37946	D	0.932495	D;D;D;D	0.69078	0.997;0.966;0.966;0.966	P;B;B;B	0.61397	0.888;0.376;0.376;0.376	T	0.71735	-0.4503	10	0.48119	T	0.1	-5.952	3.4885	0.07629	0.4444:0.0:0.2641:0.2914	.	598;706;713;713	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	I	260;713;706;598	ENSP00000441427:L260I;ENSP00000423660:L713I;ENSP00000421860:L706I;ENSP00000377886:L598I	ENSP00000377886:L598I	L	-	1	0	SH3TC2	148387351	0.504000	0.26123	0.992000	0.48379	0.993000	0.82548	0.414000	0.21164	0.047000	0.15862	0.650000	0.86243	CTT	SH3TC2	-	NULL	ENSG00000169247		0.547	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2		0	83	0	G	NM_024577		148407158	-1			no_errors	ENST00000515425	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.988	T	T	148407158	G	T	148407158	3	4	131	1	0	0	0	0	1	0	0	0	14307	1000	35	3	1757	3	SH3TC2	5	148407158	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	7158569	148407158	32508102	58	33571											
FAT2	2196	genome.wustl.edu	37	chr5	150924003	150924003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcatagtccaaaggccCtgttactgttaggacaccag	11	9	10	11	0	1	0	1	0	0	0	2	2	2	2	3	3	1	2	3	3	4	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:150924003C>A	ENST00000261800.5	-	9	6697	c.6685G>T	c.(6685-6687)Ggg>Tgg	p.G2229W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2229	Cadherin 19. {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)			TCCAAAGGCCCTGTTACTGTT	0.507																																																	0													124	121	122					5																	150924003		2203	4300	6503	SO:0001583	missense	0			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.6685G>T	5.37:g.150924003C>A	ENSP00000261800:p.Gly2229Trp		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G2229W	ENST00000261800.5	37	c.6685	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885883	0.51908	.	.	ENSG00000086570	ENST00000261800	T	0.52754	0.65	5.48	5.48	0.80851	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.68705	0.3030	M	0.76838	2.35	0.43218	D	0.99509	D	0.89917	1.0	D	0.87578	0.998	T	0.72033	-0.4412	10	0.72032	D	0.01	.	13.6285	0.62181	0.0:0.9259:0.0:0.0741	.	2229	Q9NYQ8	FAT2_HUMAN	W	2229	ENSP00000261800:G2229W	ENSP00000261800:G2229W	G	-	1	0	FAT2	150904196	0.940000	0.31905	1.000000	0.80357	0.985000	0.73830	1.627000	0.37050	2.577000	0.86979	0.561000	0.74099	GGG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	67	0	C	NM_001447		150924003	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.912	A	A	150924003	C	A	150924003	3	1	131	1	0	0	0	0	1	0	0	0	5712	681	24	3	6424	3	FAT2	5	150924003	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	2516845	150924003	29991257	59	33572											
DOCK2	1794	genome.wustl.edu	37	chr5	169507216	169507216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaacctctcggagcatgCggccatccccctcaaggcgt	8	6	9	18	3	2	0	1	0	1	0	4	1	3	1	5	3	3	1	5	3	2	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:169507216C>T	ENST00000256935.8	+	50	5296	c.5216C>T	c.(5215-5217)gCg>gTg	p.A1739V	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.A800V|DOCK2_ENST00000520908.1_Missense_Mutation_p.A1231V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1739					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)			TCGGAGCATGCGGCCATCCCC	0.557																																																	0													137	113	121					5																	169507216		2203	4300	6503	SO:0001583	missense	0			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.5216C>T	5.37:g.169507216C>T	ENSP00000256935:p.Ala1739Val		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.A1739V	ENST00000256935.8	37	c.5216	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	3.784	-0.045011	0.07452	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08102	3.75;3.4;3.13	5.23	-3.28	0.05033	.	2.046590	0.01873	N	0.037376	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.37549	-0.9701	10	0.23891	T	0.37	.	6.9851	0.24723	0.0:0.3734:0.2067:0.4199	.	1231;295;1739	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	V	1739;1231;800	ENSP00000256935:A1739V;ENSP00000429283:A1231V;ENSP00000438827:A800V	ENSP00000256935:A1739V	A	+	2	0	DOCK2	169439794	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.748000	0.04818	-0.583000	0.05921	-0.817000	0.03123	GCG	DOCK2	-	NULL	ENSG00000134516		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2		0	53	0	C	NM_004946		169507216	1			no_errors	ENST00000256935	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.000	T	T	169507216	C	T	169507216	3	4	131	1	0	0	0	0	1	0	0	0	4701	768	27	1	5414	1	DOCK2	5	169507216	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	18583213	169507216	11408044	60	33573											
NSD1	64324	genome.wustl.edu	37	chr5	176722172	176722172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagagtgggcaatcttttagGtctctcgggaaggccccagc	9	9	13	10	1	2	1	0	0	2	1	4	2	2	2	2	4	1	1	2	4	4	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:176722172G>T	ENST00000439151.2	+	23	7848	c.7803G>T	c.(7801-7803)agG>agT	p.R2601S	NSD1_ENST00000354179.4_Missense_Mutation_p.R2332S|NSD1_ENST00000347982.4_Missense_Mutation_p.R2332S|NSD1_ENST00000361032.4_Missense_Mutation_p.R2498S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2601					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)		AATCTTTTAGGTCTCTCGGGA	0.597			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													54	52	53					5																	176722172		2203	4300	6503	SO:0001583	missense	0	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.7803G>T	5.37:g.176722172G>T	ENSP00000395929:p.Arg2601Ser		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R2601S	ENST00000439151.2	37	c.7803	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530776	0.45073	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95103	-3.53;-3.54;-3.53;-3.61	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000014	D	0.94358	0.8186	N	0.24115	0.695	0.36736	D	0.88196	D;D	0.61080	0.989;0.981	D;D	0.75020	0.985;0.966	D	0.95288	0.8392	10	0.39692	T	0.17	.	15.5501	0.76145	0.0:0.0:1.0:0.0	.	2332;2601	Q96L73-2;Q96L73	.;NSD1_HUMAN	S	2332;2601;2332;2498	ENSP00000346111:R2332S;ENSP00000395929:R2601S;ENSP00000343209:R2332S;ENSP00000354310:R2498S	ENSP00000343209:R2332S	R	+	3	2	NSD1	176654778	0.995000	0.38212	1.000000	0.80357	0.460000	0.32559	0.989000	0.29629	2.335000	0.79485	0.462000	0.41574	AGG	NSD1	-	NULL	ENSG00000165671		0.597	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2		0	53	0	G	NM_172349		176722172	1			no_errors	ENST00000439151	ensembl	human	known	74_37	missense	5.80	64	4	SNP	1.000	T	T	176722172	G	T	176722172	3	4	131	1	0	0	0	0	1	0	0	0	10708	1252	44	3	7889	3	NSD1	5	176722172	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	7214956	176722172	4193088	61	33574											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178555035	178555035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cacagagtcctcttccaggaCgttgttgtcgtcgacattca	8	12	9	12	3	2	1	1	0	1	1	6	3	4	2	2	1	0	2	2	1	0	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:178555035C>T	ENST00000251582.7	-	17	2643	c.2542G>A	c.(2542-2544)Gtc>Atc	p.V848I		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	848	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCTTCCAGGACGTTGTTGTCG	0.587																																																	0													200	163	176					5																	178555035		2203	4300	6503	SO:0001583	missense	0			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.2542G>A	5.37:g.178555035C>T	ENSP00000251582:p.Val848Ile			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.V848I	ENST00000251582.7	37	c.2542	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867352	0.32977	.	.	ENSG00000087116	ENST00000251582	T	0.60548	0.18	4.55	4.55	0.56014	.	0.000000	0.50627	D	0.000109	T	0.52386	0.1731	L	0.59436	1.845	0.80722	D	1	P	0.37525	0.598	B	0.30943	0.122	T	0.59974	-0.7353	10	0.49607	T	0.09	.	16.6512	0.85203	0.0:1.0:0.0:0.0	.	848	O95450	ATS2_HUMAN	I	848	ENSP00000251582:V848I	ENSP00000251582:V848I	V	-	1	0	ADAMTS2	178487641	0.019000	0.18553	0.957000	0.39632	0.230000	0.25150	0.576000	0.23744	2.232000	0.73038	0.462000	0.41574	GTC	ADAMTS2	-	superfamily_Thrombospondin_1_rpt	ENSG00000087116		0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0	46	0	C	NM_014244		178555035	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	missense	53.19	22	25	SNP	0.987	T	T	178555035	C	T	178555035	3	4	131	1	0	0	0	0	1	0	0	0	265	536	19	1	1117	1	ADAMTS2	5	178555035	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	1832863	178555035	2360225	62	33575											
XPO5	57510	genome.wustl.edu	37	chr6	43538251	43538251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccttaccacttgctgataCttgtttacattttcttgaag	8	18	5	10	0	1	2	0	2	1	0	2	2	2	2	2	0	4	2	2	0	4	9			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:43538251C>A	ENST00000265351.7	-	5	819	c.609G>T	c.(607-609)aaG>aaT	p.K203N		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	203					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)			CTTGCTGATACTTGTTTACAT	0.378																																																	0													212	207	209					6																	43538251		1860	4097	5957	SO:0001583	missense	0			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.609G>T	6.37:g.43538251C>A	ENSP00000265351:p.Lys203Asn		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.K203N	ENST00000265351.7	37	c.609	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	C	9.874	1.199689	0.22121	.	.	ENSG00000124571	ENST00000265351	T	0.64991	-0.13	5.56	1.81	0.25067	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.236298	0.45361	D	0.000379	T	0.23532	0.0569	N	0.16478	0.41	0.44018	D	0.996733	B	0.18461	0.028	B	0.22152	0.038	T	0.04885	-1.0920	10	0.19147	T	0.46	-23.5997	10.8406	0.46712	0.0:0.6787:0.0:0.3213	.	203	Q9HAV4	XPO5_HUMAN	N	203	ENSP00000265351:K203N	ENSP00000265351:K203N	K	-	3	2	XPO5	43646229	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.734000	0.26101	0.413000	0.25759	-0.794000	0.03295	AAG	XPO5	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000124571		0.378	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	-	0	65	0	C	NM_020750		43538251	-1	tier1	-	no_errors	ENST00000265351	ensembl	human	known	74_37	missense	22.78	61	18	SNP	0.997	A	A	43538251	C	A	43538251	3	1	131	1	0	0	0	0	1	0	0	0	17496	564	20	3	3117	3	XPO5	6	43538251	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09		43538251	127576816	63	33576											
EYS	346007	genome.wustl.edu	37	chr6	65301788	65301788	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctagtgacaatcagttcttgGagtaagtagctttccaaggg	11	12	11	7	0	2	1	1	1	1	0	3	2	3	2	1	2	1	4	1	2	5	6	rs202130794		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:65301788G>T	ENST00000370621.3	-	26	4498	c.3972C>A	c.(3970-3972)ctC>ctA	p.L1324L	EYS_ENST00000503581.1_Silent_p.L1324L|EYS_ENST00000370616.2_Silent_p.L1324L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1324					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						TCAGTTCTTGGAGTAAGTAGC	0.433																																																	0													106	94	98					6																	65301788		692	1590	2282	SO:0001819	synonymous_variant	0				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.3972C>A	6.37:g.65301788G>T			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1324	ENST00000370621.3	37	c.3972		6																																																																																			EYS	-	NULL	ENSG00000188107		0.433	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	39	0	G	XM_294050		65301788	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.000	T	T	65301788	G	T	65301788	2	4	131	1	0	0	0	0	0	0	0	1	5348	1161	41	3		3	EYS	6	65301788	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	21763537	65301788	105813279	64	33577											
ZNF292	23036	genome.wustl.edu	37	chr6	87965931	87965931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagtgaatcagaacacaGcagagaatattgagaaagaa	20	6	10	5	0	1	6	1	3	0	4	1	8	1	6	0	0	2	1	0	0	7	2	rs34219084		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:87965931G>T	ENST00000369577.3	+	8	2627	c.2584G>T	c.(2584-2586)Gca>Tca	p.A862S	ZNF292_ENST00000339907.4_Missense_Mutation_p.A857S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	862						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)		TCAGAACACAGCAGAGAATAT	0.403																																																	0													51	49	50					6																	87965931		1895	4125	6020	SO:0001583	missense	0			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.2584G>T	6.37:g.87965931G>T	ENSP00000358590:p.Ala862Ser		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A862S	ENST00000369577.3	37	c.2584	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	4.441	0.081678	0.08533	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06608	3.28;3.29	5.83	5.83	0.93111	.	0.653254	0.16377	N	0.217090	T	0.01661	0.0053	N	0.08118	0	0.32213	N	0.576223	B	0.02656	0.0	B	0.01281	0.0	T	0.46938	-0.9155	10	0.13470	T	0.59	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	862	O60281	ZN292_HUMAN	S	862;857	ENSP00000358590:A862S;ENSP00000342847:A857S	ENSP00000342847:A857S	A	+	1	0	ZNF292	88022650	0.847000	0.29606	0.978000	0.43139	0.863000	0.49368	2.249000	0.43169	2.756000	0.94617	0.655000	0.94253	GCA	ZNF292	-	NULL	ENSG00000188994		0.403	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2		0	44	0	G	NM_015021		87965931	1			no_errors	ENST00000369577	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.955	T	T	87965931	G	T	87965931	3	4	131	1	0	0	0	0	1	0	0	0	17874	971	34	3	2614	3	ZNF292	6	87965931	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	22664143	87965931	83149136	65	33578											
ROS1	6098	genome.wustl.edu	37	chr6	117715336	117715336	+	Missense_Mutation	SNP	T	T	G	0	1	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	cggactaaccagttcatccaTgatgaaatacattctttgat	13	13	6	9	1	2	3	1	3	1	0	3	4	3	4	2	1	2	1	2	1	3	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:117715336T>G	ENST00000368508.3	-	10	1351	c.1153A>C	c.(1153-1155)Atg>Ctg	p.M385L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.M394L	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	385					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)		AGTTCATCCATGATGAAATAC	0.333			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													48	50	50					6																	117715336		2202	4298	6500	SO:0001583	missense	0			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.1153A>C	6.37:g.117715336T>G	ENSP00000357494:p.Met385Leu		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M385L	ENST00000368508.3	37	c.1153	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013930	0.35511	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90844	-2.74;-2.74	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.91915	0.7440	L	0.60455	1.87	0.80722	D	1	P	0.48016	0.904	P	0.61658	0.892	D	0.91580	0.5278	10	0.42905	T	0.14	.	14.8014	0.69919	0.0:0.0:0.0:1.0	.	385	P08922	ROS1_HUMAN	L	385;394	ENSP00000357494:M385L;ENSP00000357493:M394L	ENSP00000357493:M394L	M	-	1	0	ROS1	117822029	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.521000	0.53472	2.237000	0.73441	0.528000	0.53228	ATG	ROS1	-	smart_LDLR_classB_rpt	ENSG00000047936		0.333	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	-	0	47	0	T			117715336	-1	tier1	-	no_errors	ENST00000368508	ensembl	human	known	74_37	missense	36.00	48	27	SNP	1.000	G	G	117715336	T	G	117715336	3	3	131	1	0	0	0	0	1	0	0	0	13576	1464	51	4	6026	4	ROS1	6	117715336	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	29749405	117715336	53399731	66	33579											
CLVS2	134829	genome.wustl.edu	37	chr6	123377007	123377007	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caactaattcatcctgagatCctgccctctgagtttggagg	9	12	9	11	0	2	2	1	2	1	1	4	4	4	3	3	2	2	1	3	2	2	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:123377007C>T	ENST00000275162.5	+	5	2067	c.732C>T	c.(730-732)atC>atT	p.I244I	CLVS2_ENST00000368438.1_Silent_p.I98I	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	244	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATCCTGAGATCCTGCCCTCTG	0.453																																																	0													188	159	168					6																	123377007		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.732C>T	6.37:g.123377007C>T			B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.I244	ENST00000275162.5	37	c.732	CCDS34525.1	6																																																																																			CLVS2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000146352		0.453	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	-	0	33	0	C	NM_001010852		123377007	1	tier1	-	no_errors	ENST00000275162	ensembl	human	known	74_37	silent	25.00	48	16	SNP	0.948	T	T	123377007	C	T	123377007	2	4	131	1	0	0	0	0	0	0	0	1	3579	845	30	3		3	CLVS2	6	123377007	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	5661671	123377007	47738060	67	33580											
AIG1	51390	genome.wustl.edu	37	chr6	143382095	143382095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccaggtgctgcggatGgcaatcctgctgtcttactg	5	11	12	13	1	1	0	0	0	1	0	2	1	2	1	3	3	5	3	3	3	2	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:143382095G>T	ENST00000275235.4	+	1	58	c.33G>T	c.(31-33)atG>atT	p.M11I	AIG1_ENST00000344492.5_Missense_Mutation_p.M11I|AIG1_ENST00000494282.2_Missense_Mutation_p.M11I|AIG1_ENST00000367596.1_Missense_Mutation_p.M11I|AIG1_ENST00000357847.4_Missense_Mutation_p.M11I|AIG1_ENST00000367598.5_Missense_Mutation_p.M11I			Q9NVV5	AIG1_HUMAN	androgen-induced 1	11						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TGCTGCGGATGGCAATCCTGC	0.637																																																	0													131	113	119					6																	143382095		2203	4300	6503	SO:0001583	missense	0			AF153605	CCDS5198.1, CCDS69216.1	6q24.1	2008-02-05			ENSG00000146416	ENSG00000146416			21607	protein-coding gene	gene with protein product		608514				11266118	Standard	NM_001286587		Approved	dJ95L4.1, AIG-1, FLJ10485	uc003qjh.3	Q9NVV5	OTTHUMG00000015721	ENST00000275235.4:c.33G>T	6.37:g.143382095G>T	ENSP00000275235:p.Met11Ile		B4DPX2|C9J569|Q5T2H2|Q6N047|Q7Z378|Q8TB14|Q9Y3A9|Q9Y5B4	Missense_Mutation	SNP	pfam_Far-17a_AIG1	p.M11I	ENST00000275235.4	37	c.33		6	.	.	.	.	.	.	.	.	.	.	g	8.854	0.945400	0.18356	.	.	ENSG00000146416	ENST00000367601;ENST00000419072;ENST00000367598;ENST00000447498;ENST00000357847;ENST00000344492;ENST00000367596;ENST00000275235	T;T;T;T;T	0.39787	1.07;1.06;1.66;1.61;1.63	3.94	2.04	0.26737	.	0.571022	0.17585	N	0.168997	T	0.06416	0.0165	N	0.08118	0	0.19575	N	0.999965	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	0.42515	-0.9447	10	0.12103	T	0.63	-11.9118	8.6207	0.33859	0.094:0.4338:0.4722:0.0	.	11;11;11;11;7	B4DPX2;Q9NVV5-3;Q9NVV5-2;Q9NVV5-5;E7ENG8	.;.;.;.;.	I	7;7;11;11;11;11;11;11	ENSP00000356573:M7I;ENSP00000405048:M11I;ENSP00000350509:M11I;ENSP00000340090:M11I;ENSP00000275235:M11I	ENSP00000275235:M11I	M	+	3	0	AIG1	143423788	0.999000	0.42202	0.371000	0.25978	0.051000	0.14879	0.500000	0.22562	0.391000	0.25143	0.552000	0.68991	ATG	AIG1	-	NULL	ENSG00000146416		0.637	AIG1-005	KNOWN	basic	protein_coding	AIG1	HGNC	protein_coding	OTTHUMT00000042510.1	-	0	23	0	G	NM_016108		143382095	1	tier1	-	no_errors	ENST00000275235	ensembl	human	known	74_37	missense	45.83	26	22	SNP	0.944	T	T	143382095	G	T	143382095	3	4	131	1	0	0	0	0	1	0	0	0	429	1348	47	3	35	3	AIG1	6	143382095	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	20005088	143382095	27732972	68	33581											
TAB2	23118	genome.wustl.edu	37	chr6	149699917	149699917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctacatgccaatcagttCacctactacttcacaaccac	12	11	3	15	0	4	0	3	0	1	0	4	0	4	0	3	0	5	1	3	0	5	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:149699917C>T	ENST00000367456.1	+	4	1443	c.866C>T	c.(865-867)tCa>tTa	p.S289L	TAB2_ENST00000536230.1_Missense_Mutation_p.S257L|TAB2_ENST00000538427.1_Missense_Mutation_p.S289L|TAB2_ENST00000286332.5_Missense_Mutation_p.S289L|TAB2_ENST00000392282.1_Missense_Mutation_p.S289L			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	289					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCAATCAGTTCACCTACTACT	0.448																																																	0													170	148	155					6																	149699917		2203	4300	6503	SO:0001583	missense	0			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.866C>T	6.37:g.149699917C>T	ENSP00000356426:p.Ser289Leu		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.S289L	ENST00000367456.1	37	c.866	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750439	0.49257	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.76839	-1.05;-1.05;-1.04;-1.04;-1.04	6.03	6.03	0.97812	.	0.056827	0.64402	D	0.000001	T	0.79776	0.4504	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.81762	-0.0784	10	0.72032	D	0.01	-2.8777	20.5753	0.99366	0.0:1.0:0.0:0.0	.	257;289	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	L	257;289;289;289;289	ENSP00000443206:S257L;ENSP00000376106:S289L;ENSP00000445752:S289L;ENSP00000356426:S289L;ENSP00000286332:S289L	ENSP00000286332:S289L	S	+	2	0	TAB2	149741610	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	7.294000	0.78760	2.868000	0.98415	0.557000	0.71058	TCA	TAB2	-	NULL	ENSG00000055208		0.448	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3		0	38	0	C			149699917	1			no_errors	ENST00000286332	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	T	T	149699917	C	T	149699917	3	4	131	1	0	0	0	0	1	0	0	0	15543	838	29	3	872	3	TAB2	6	149699917	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	6317822	149699917	21415150	69	33582											
CYP2W1	54905	genome.wustl.edu	37	chr7	1024635	1024635	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggctgcccgccagttcacGgtgcgtgccctgcacagcct	5	7	13	16	3	1	0	1	0	0	0	1	0	1	0	4	2	5	3	4	2	0	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:1024635G>C	ENST00000308919.7	+	3	400	c.387G>C	c.(385-387)acG>acC	p.T129T	CYP2W1_ENST00000340150.6_Silent_p.T73T	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	129					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)		GCCAGTTCACGGTGCGTGCCC	0.652																																																	0													32	39	36					7																	1024635		2202	4299	6501	SO:0001819	synonymous_variant	0			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.387G>C	7.37:g.1024635G>C				Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.T129	ENST00000308919.7	37	c.387	CCDS5319.2	7																																																																																			CYP2W1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000073067		0.652	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2W1	HGNC	protein_coding	OTTHUMT00000157249.1	-	0	67	0	G	NM_017781		1024635	1	tier1	-	no_errors	ENST00000308919	ensembl	human	known	74_37	silent	44.71	47	38	SNP	0.000	C	C	1024635	G	C	1024635	2	2	131	1	0	0	0	0	0	0	0	1	4185	1103	39	5		5	CYP2W1	7	1024635	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		1024635	158114028	70	33583											
FOXK1	221937	genome.wustl.edu	37	chr7	4798961	4798961	+	Silent	SNP	G	G	A	0	0	1	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	ggctcccccgtcagcgcccaGccagtgatcatggccgtgcc	5	6	12	18	3	2	1	2	1	0	0	3	1	3	1	6	2	3	1	6	2	0	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:4798961G>A	ENST00000328914.4	+	7	1431	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q	FOXK1_ENST00000446823.1_Silent_p.Q314Q	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCAGCGCCCAGCCAGTGATCA	0.751																																																	0													16	18	17					7																	4798961		2187	4291	6478	SO:0001819	synonymous_variant	0			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1431G>A	7.37:g.4798961G>A				Silent	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.Q477	ENST00000328914.4	37	c.1431	CCDS34591.1	7																																																																																			FOXK1	-	NULL	ENSG00000164916		0.751	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	HGNC	protein_coding	OTTHUMT00000323729.2	-	0	21	0	G			4798961	1	tier1	-	no_errors	ENST00000328914	ensembl	human	known	74_37	silent	36.07	39	22	SNP	1.000	A	A	4798961	G	A	4798961	2	1	131	1	0	0	0	0	0	0	0	1	6038	962	34	3		3	FOXK1	7	4798961	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	3774326	4798961	154339702	71	33584											
SLC25A13	10165	genome.wustl.edu	37	chr7	95799431	95799431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttatccctcacaaaatCgttcaccttgaagaaaaata	18	11	3	9	1	2	2	2	1	0	1	4	2	3	2	2	0	0	1	2	0	8	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:95799431C>A	ENST00000265631.5	-	13	1373	c.1237G>T	c.(1237-1239)Gat>Tat	p.D413Y	SLC25A13_ENST00000416240.2_Missense_Mutation_p.D414Y|SLC25A13_ENST00000542654.1_Missense_Mutation_p.D305Y			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	413					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)	CTCACAAAATCGTTCACCTTG	0.333																																																	0													82	85	84					7																	95799431		2203	4300	6503	SO:0001583	missense	0			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.1237G>T	7.37:g.95799431C>A	ENSP00000265631:p.Asp413Tyr		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.D414Y	ENST00000265631.5	37	c.1240	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014598	0.75161	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80994	-1.44;-1.44;-1.44	5.06	5.06	0.68205	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90676	0.7075	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91554	0.5259	10	0.87932	D	0	-21.4166	19.0145	0.92888	0.0:1.0:0.0:0.0	.	305;414;413	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	Y	413;414;305	ENSP00000265631:D413Y;ENSP00000400101:D414Y;ENSP00000440484:D305Y	ENSP00000265631:D413Y	D	-	1	0	SLC25A13	95637367	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.520000	0.73773	2.809000	0.96659	0.467000	0.42956	GAT	SLC25A13	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000004864		0.333	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2	-	0	62	0	C	NM_014251		95799431	-1	tier1	-	no_errors	ENST00000416240	ensembl	human	known	74_37	missense	6.90	81	6	SNP	1.000	A	A	95799431	C	A	95799431	3	1	131	1	0	0	0	0	1	0	0	0	14520	884	31	2	814	2	SLC25A13	7	95799431	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	91000470	95799431	63339232	72	33585											
C7orf43	55262	genome.wustl.edu	37	chr7	99754275	99754275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accggtagtgggtgtagatgCtctgagtgaagggcagcttt	8	11	16	6	1	1	3	0	2	1	1	1	3	1	3	1	3	2	5	1	3	3	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:99754275C>T	ENST00000316937.3	-	7	1243	c.1058G>A	c.(1057-1059)aGc>aAc	p.S353N	C7orf43_ENST00000457641.1_Missense_Mutation_p.S84N|C7orf43_ENST00000394035.2_5'Flank|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000419841.1_Missense_Mutation_p.S121N	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	353										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTGTAGATGCTCTGAGTGAA	0.572																																																	0													87	77	80					7																	99754275		2203	4300	6503	SO:0001583	missense	0				CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1058G>A	7.37:g.99754275C>T	ENSP00000324741:p.Ser353Asn		A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	NULL	p.S353N	ENST00000316937.3	37	c.1058	CCDS5687.1	7	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515420	0.44763	.	.	ENSG00000146826	ENST00000457641;ENST00000316937;ENST00000419841	T;T;T	0.46819	0.87;0.86;0.86	5.71	5.71	0.89125	.	0.055626	0.64402	D	0.000001	T	0.28797	0.0714	N	0.14661	0.345	0.34714	D	0.728099	P;P	0.46512	0.718;0.879	B;B	0.39660	0.201;0.306	T	0.30966	-0.9960	10	0.02654	T	1	-16.0112	17.3306	0.87262	0.0:1.0:0.0:0.0	.	121;353	E9PFF9;Q8WVR3	.;CG043_HUMAN	N	84;353;121	ENSP00000396432:S84N;ENSP00000324741:S353N;ENSP00000406326:S121N	ENSP00000324741:S353N	S	-	2	0	C7orf43	99592211	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.943000	0.63554	2.702000	0.92279	0.561000	0.74099	AGC	C7orf43	-	NULL	ENSG00000146826		0.572	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf43	HGNC	protein_coding	OTTHUMT00000337395.2	-	0	33	0	C	NM_018275		99754275	-1	tier1	-	no_errors	ENST00000316937	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	T	T	99754275	C	T	99754275	3	4	131	1	0	0	0	0	1	0	0	0	2400	797	28	3	704	3	C7orf43	7	99754275	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	3954844	99754275	59384388	73	33586											
HBP1	26959	genome.wustl.edu	37	chr7	106836591	106836591	+	Missense_Mutation	SNP	T	T	A																															cagatgtatccagggaaagaTaacaggtaaaaatagtgata																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:106836591T>A	ENST00000222574.4	+	9	1566	c.1380T>A	c.(1378-1380)gaT>gaA	p.D460E	CTA-363E19.2_ENST00000607036.1_RNA|HBP1_ENST00000468410.1_Missense_Mutation_p.D460E|HBP1_ENST00000485846.1_Missense_Mutation_p.D460E|HBP1_ENST00000461963.1_3'UTR	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	460					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						CAGGGAAAGATAACAGGTAAA	0.323																																																	0													37	39	38					7																	106836591		2203	4300	6503	SO:0001583	missense	0			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.1380T>A	7.37:g.106836591T>A	ENSP00000222574:p.Asp460Glu		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom	p.D460E	ENST00000222574.4	37	c.1380	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484441	0.84854	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-3.27	5.85	5.85	0.93711	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.97486	0.9177	L	0.39085	1.19	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;0.996;1.0	D	0.97660	1.0160	10	0.72032	D	0.01	-0.5233	10.8478	0.46753	0.0:0.0787:0.0:0.9213	.	470;460;460	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	E	460;460;460;452	ENSP00000420500:D460E;ENSP00000222574:D460E;ENSP00000418738:D460E;ENSP00000418017:D452E	ENSP00000222574:D460E	D	+	3	2	HBP1	106623827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.206000	0.42779	2.238000	0.73509	0.528000	0.53228	GAT	HBP1	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000105856		0.323	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	-	0	47	0	T	NM_012257		106836591	1	tier1	-	no_errors	ENST00000222574	ensembl	human	known	74_37	missense	24.62	49	16	SNP	1.000	A	A	106836591	T	A	106836591	3	1	131	1	0	0	0	0	1	0	0	0	7012	1403	49	5	1410	5	HBP1	7	106836591	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	7082316	106836591	52302072	74	33587	123	2									
HBP1	26959	genome.wustl.edu	37	chr7	106836593	106836593	+	Missense_Mutation	SNP	A	A	G																															gatgtatccagggaaagataAcaggtaaaaatagtgataat																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:106836593A>G	ENST00000222574.4	+	9	1568	c.1382A>G	c.(1381-1383)aAc>aGc	p.N461S	CTA-363E19.2_ENST00000607036.1_RNA|HBP1_ENST00000468410.1_Missense_Mutation_p.N461S|HBP1_ENST00000485846.1_Missense_Mutation_p.N461S|HBP1_ENST00000461963.1_3'UTR	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	461					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						GGGAAAGATAACAGGTAAAAA	0.323																																																	0													36	38	37					7																	106836593		2203	4300	6503	SO:0001583	missense	0			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.1382A>G	7.37:g.106836593A>G	ENSP00000222574:p.Asn461Ser		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom	p.N461S	ENST00000222574.4	37	c.1382	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687303	0.88639	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D;D	0.98150	-4.75;-4.75;-4.75;-3.35	5.65	5.65	0.86999	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98466	0.9489	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.997;0.999	D	0.99821	1.1047	10	0.87932	D	0	-7.6649	15.8677	0.79076	1.0:0.0:0.0:0.0	.	471;461;461	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	S	461;461;461;453	ENSP00000420500:N461S;ENSP00000222574:N461S;ENSP00000418738:N461S;ENSP00000418017:N453S	ENSP00000222574:N461S	N	+	2	0	HBP1	106623829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.281000	0.95811	2.154000	0.67381	0.528000	0.53228	AAC	HBP1	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000105856		0.323	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	-	0	47	0	A	NM_012257		106836593	1	tier1	-	no_errors	ENST00000222574	ensembl	human	known	74_37	missense	25.40	47	16	SNP	1.000	G	G	106836593	A	G	106836593	3	3	131	1	0	0	0	0	1	0	0	0	7012	43	2	4	1412	4	HBP1	7	106836593	Missense_Mutation	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09	2	106836593	52302070	75	33588	123	2									
PNPLA8	50640	genome.wustl.edu	37	chr7	108119807	108119807	+	Missense_Mutation	SNP	A	A	C	1	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	ctaatgccgaagggttattcAgaagcaaacctccatcctgc	12	9	8	12	1	1	1	1	0	0	1	3	2	3	1	4	1	4	2	4	1	5	3	rs144990439		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:108119807A>C	ENST00000422087.1	-	11	2301	c.1895T>G	c.(1894-1896)cTg>cGg	p.L632R	PNPLA8_ENST00000453144.1_Missense_Mutation_p.L532R|PNPLA8_ENST00000426128.2_Missense_Mutation_p.L570R|PNPLA8_ENST00000388728.5_Missense_Mutation_p.L570R|PNPLA8_ENST00000436062.1_Missense_Mutation_p.L632R|PNPLA8_ENST00000257694.8_Missense_Mutation_p.L632R	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	632	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AGGGTTATTCAGAAGCAAACC	0.388																																																	0								A	ARG/LEU	0,4406		0,0,2203	109	92	98		1895	5.8	1	7	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	PNPLA8	NM_015723.2	102	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging	632/783	108119807	1,13005	2203	4300	6503	SO:0001583	missense	0			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1895T>G	7.37:g.108119807A>C	ENSP00000410804:p.Leu632Arg		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.L632R	ENST00000422087.1	37	c.1895	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607840	0.87258	0.0	1.16E-4	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T	0.78924	-1.22;-1.07;-1.22;-1.22;-1.22;-1.22	5.78	5.78	0.91487	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.138689	0.49305	D	0.000159	D	0.82815	0.5119	L	0.37630	1.12	0.34986	D	0.754546	D	0.76494	0.999	D	0.77004	0.989	D	0.86226	0.1634	10	0.39692	T	0.17	.	16.109	0.81247	1.0:0.0:0.0:0.0	.	632	Q9NP80	PLPL8_HUMAN	R	567;632;570;632;532;632;532	ENSP00000257694:L632R;ENSP00000373380:L570R;ENSP00000410804:L632R;ENSP00000387789:L532R;ENSP00000406779:L632R;ENSP00000402274:L532R	ENSP00000257694:L632R	L	-	2	0	PNPLA8	107907043	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.248000	0.95456	2.198000	0.70561	0.533000	0.62120	CTG	PNPLA8	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000135241		0.388	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	-	0	37	0	A	NM_015723		108119807	-1	tier1	rs144990439	no_errors	ENST00000257694	ensembl	human	known	74_37	missense	58.90	29	43	SNP	1.000	C	C	108119807	A	C	108119807	3	2	131	1	0	0	0	0	1	0	0	0	12210	188	7	4	461	4	PNPLA8	7	108119807	Missense_Mutation	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09	1283214	108119807	51018856	76	33589											
SND1	27044	genome.wustl.edu	37	chr7	127724828	127724828	+	Frame_Shift_Del	DEL	C	C	-																															cgcaatgacattgccagtcaCccccctgtagagggctccta																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:127724828delC	ENST00000354725.3	+	19	2357	c.2163delC	c.(2161-2163)cacfs	p.H721fs	MIR593_ENST00000384856.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	721					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						TTGCCAGTCACCCCCCTGTAG	0.557																																																	0													93	81	85					7																	127724828		2203	4300	6503	SO:0001589	frameshift_variant	0				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.2163delC	7.37:g.127724828delC	ENSP00000346762:p.His721fs		Q13122|Q96AG0	Frame_Shift_Del	DEL	pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold	p.P723fs	ENST00000354725.3	37	c.2163	CCDS34747.1	7																																																																																			SND1	-	pfam_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN	ENSG00000197157		0.557	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1		0	44	0	C	NM_014390		127724828	1	tier1		no_errors	ENST00000354725	ensembl	human	known	74_37	frame_shift_del	6.38	44	3	DEL	1.000	-	-	127724828	C	-	127724828	7	5	131	1	0	1	0	1	0	0	0	0	14889	506	18	0	2237	0	SND1	7	127724828	Frame_Shift_Del	DEL	C	TCGA-LN-A8I1-01A-11D-A36J-09	19605021	127724828	31413835	77	33590											
CNOT4	4850	genome.wustl.edu	37	chr7	135079021	135079021	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaaagggaaggttggtcttGaacggacagttccttctcaa	11	10	12	8	2	2	1	1	1	2	0	4	4	3	3	1	4	1	2	1	4	4	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:135079021G>C	ENST00000315544.5	-	10	1555	c.1276C>G	c.(1276-1278)Caa>Gaa	p.Q426E	CNOT4_ENST00000541284.1_Missense_Mutation_p.Q426E|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.Q423E|CNOT4_ENST00000451834.1_Missense_Mutation_p.Q423E|CNOT4_ENST00000428680.2_Missense_Mutation_p.Q423E|CNOT4_ENST00000423368.2_Missense_Mutation_p.Q426E|CNOT4_ENST00000356162.4_Intron	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	426					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						GGTTGGTCTTGAACGGACAGT	0.498																																					Ovarian(51;766 1130 5502 35047 50875)												0													133	136	135					7																	135079021		1979	4164	6143	SO:0001583	missense	0			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.1276C>G	7.37:g.135079021G>C	ENSP00000326731:p.Gln426Glu		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom	p.Q426E	ENST00000315544.5	37	c.1276	CCDS55166.1	7	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412247	0.42817	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.91	5.0	0.66597	.	0.048038	0.85682	D	0.000000	T	0.30198	0.0757	N	0.17082	0.46	0.58432	D	0.999996	B;B;B;B;B;B	0.15473	0.001;0.002;0.002;0.013;0.004;0.004	B;B;B;B;B;B	0.13407	0.002;0.004;0.004;0.009;0.009;0.009	T	0.11203	-1.0597	10	0.07030	T	0.85	-6.0457	15.2644	0.73649	0.0:0.0:0.8588:0.1412	.	423;426;426;423;426;423	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	E	426;423;426;426;423;423;426	ENSP00000445508:Q426E;ENSP00000388491:Q423E;ENSP00000406777:Q426E;ENSP00000354673:Q423E;ENSP00000399108:Q423E;ENSP00000326731:Q426E	ENSP00000262563:Q426E	Q	-	1	0	CNOT4	134729561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.360000	0.73064	1.443000	0.47586	0.655000	0.94253	CAA	CNOT4	-	NULL	ENSG00000080802		0.498	CNOT4-201	KNOWN	basic|CCDS	protein_coding	CNOT4	HGNC	protein_coding		-	0	91	0	G	NM_013316		135079021	-1	tier1	-	no_errors	ENST00000541284	ensembl	human	known	74_37	missense	26.32	56	20	SNP	1.000	C	C	135079021	G	C	135079021	3	2	131	1	0	0	0	0	1	0	0	0	3628	1299	45	5	765	5	CNOT4	7	135079021	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	7354193	135079021	24059642	78	33591											
SSPO	23145	genome.wustl.edu	37	chr7	149511902	149511902	+	RNA	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggggccatggtctccctgCgacatgtgcttggggcagtc	4	10	16	11	1	1	0	0	0	1	0	3	1	1	0	2	5	2	2	2	5	0	1	rs62492762	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:149511902C>A	ENST00000378016.2	+	0	10452							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)			GGTCTCCCTGCGACATGTGCT	0.701																																																	0													7	9	8					7																	149511902		1973	4092	6065			0			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.149511902C>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.701	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	43	0	C			149511902	1	tier1	-	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	39.53	26	17	SNP	0.841	A	A	149511902	C	A	149511902	1	1	131	0	1	0	0	0	0	0	0	0	15236	776	27	2		2	SSPO	7	149511902	RNA	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	14432881	149511902	9626761	79	33592											
DPP6	1804	genome.wustl.edu	37	chr7	153750014	153750014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaggggcccgaggaggacGgcggcgcaggagccaagccc	8	0	19	14	4	0	0	0	0	0	0	0	4	0	3	4	7	2	1	4	7	1	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:153750014G>A	ENST00000377770.3	+	1	250	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	AC006019.3_ENST00000425591.1_RNA|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000406326.1_Missense_Mutation_p.G37S			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	37					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)			CGAGGAGGACGGCGGCGCAGG	0.791																																					NSCLC(125;1384 1783 2490 7422 34254)												0													6	8	7					7																	153750014		680	1560	2240	SO:0001583	missense	0			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.109G>A	7.37:g.153750014G>A	ENSP00000367001:p.Gly37Ser			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.G37S	ENST00000377770.3	37	c.109		7	.	.	.	.	.	.	.	.	.	.	G	3.393	-0.123880	0.06795	.	.	ENSG00000130226	ENST00000406326;ENST00000377770	T	0.16073	2.37	2.73	1.78	0.24846	.	.	.	.	.	T	0.07728	0.0194	.	.	.	0.22489	N	0.999058	B;B	0.34181	0.0;0.44	B;B	0.22753	0.001;0.041	T	0.29088	-1.0023	8	0.19147	T	0.46	.	7.7391	0.28831	0.1396:0.0:0.8604:0.0	.	37;37	P42658;Q8IYG9	DPP6_HUMAN;.	S	37	ENSP00000367001:G37S	ENSP00000367001:G37S	G	+	1	0	DPP6	153380947	0.983000	0.35010	0.465000	0.27155	0.023000	0.10783	2.289000	0.43523	1.225000	0.43566	0.549000	0.68633	GGC	DPP6	-	NULL	ENSG00000130226		0.791	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1		0	57	0	G	NM_130797		153750014	1			no_errors	ENST00000377770	ensembl	human	known	74_37	missense	8.00	69	6	SNP	0.299	A	A	153750014	G	A	153750014	3	1	131	1	0	0	0	0	1	0	0	0	4744	1116	39	1	166	1	DPP6	7	153750014	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	4238112	153750014	5388649	80	33593											
RP1L1	94137	genome.wustl.edu	37	chr8	10470478	10470478	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccacaccccaggctctGagaagccccaagggtagccc	9	4	10	18	0	1	1	0	1	1	1	2	2	2	1	7	2	2	2	7	2	3	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr8:10470478G>T	ENST00000382483.3	-	4	1353	c.1130C>A	c.(1129-1131)tCa>tAa	p.S377*		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	377					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)		CCCAGGCTCTGAGAAGCCCCA	0.672																																																	0													43	49	47					8																	10470478		1874	4090	5964	SO:0001587	stop_gained	0			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.1130C>A	8.37:g.10470478G>T	ENSP00000371923:p.Ser377*		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Nonsense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S377*	ENST00000382483.3	37	c.1130	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.595422	0.96602	.	.	ENSG00000183638	ENST00000382483	.	.	.	5.2	1.52	0.23074	.	0.339027	0.16821	U	0.198158	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6378	6.1658	0.20390	0.2161:0.1387:0.6451:0.0	.	.	.	.	X	377	.	ENSP00000371923:S377X	S	-	2	0	RP1L1	10507888	0.040000	0.19996	0.000000	0.03702	0.002000	0.02628	2.040000	0.41203	-0.009000	0.14296	0.561000	0.74099	TCA	RP1L1	-	NULL	ENSG00000183638		0.672	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1		0	30	0	G			10470478	-1			no_errors	ENST00000382483	ensembl	human	known	74_37	nonsense	8.70	21	2	SNP	0.000	T	T	10470478	G	T	10470478	4	4	131	1	0	0	0	0	0	1	0	0	13578	1294	45	3	6076	3	RP1L1	8	10470478	Nonsense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		10470478	135893544	81	33594											
PDLIM2	64236	genome.wustl.edu	37	chr8	22439044	22439044	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcggctgcagctggaccgGtagggcctcccgctctgcag	4	7	15	15	3	1	0	0	0	1	0	2	1	2	1	3	4	4	6	3	4	1	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr8:22439044G>T	ENST00000397760.4	+	3	645		c.e3+1		PDLIM2_ENST00000265810.4_Splice_Site|PDLIM2_ENST00000409417.1_Splice_Site|PDLIM2_ENST00000409141.1_Splice_Site|PDLIM2_ENST00000308354.7_Splice_Site|PDLIM2_ENST00000397761.2_Splice_Site|PDLIM2_ENST00000339162.7_Splice_Site			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGCTGGACCGGTAGGGCCTCC	0.677																																																	0													40	38	39					8																	22439044		2203	4298	6501	SO:0001630	splice_region_variant	0			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.245+1G>T	8.37:g.22439044G>T			D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Splice_Site	SNP	-	e3+1	ENST00000397760.4	37	c.995+1		8	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233988	0.58886	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000381194;ENST00000397761;ENST00000436754;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3541	0.66724	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDLIM2	22494989	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	5.173000	0.65010	2.174000	0.68829	0.561000	0.74099	.	PDLIM2	-	-	ENSG00000120913		0.677	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	HGNC	protein_coding	OTTHUMT00000334167.1	-	0	45	0	G		Intron	22439044	1	tier1	-	no_errors	ENST00000308354	ensembl	human	known	74_37	splice_site	10.81	33	4	SNP	1.000	T	T	22439044	G	T	22439044	5	4	131	1	0	0	0	0	0	0	1	0	11719	1275	44	3	252	3	PDLIM2	8	22439044	Splice_Site	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	11968566	22439044	123924978	82	33595											
KCNU1	157855	genome.wustl.edu	37	chr8	36721957	36721957	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaatgaaaaaatgtctgaagGgaatctcctctcgtatatca	15	11	8	7	1	4	2	1	2	3	0	6	4	4	3	1	1	0	1	1	1	8	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr8:36721957G>T	ENST00000399881.3	+	19	1964	c.1927G>T	c.(1927-1929)Gga>Tga	p.G643*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	643					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)		ATGTCTGAAGGGAATCTCCTC	0.448																																																	0													136	127	130					8																	36721957		1861	4093	5954	SO:0001587	stop_gained	0			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.1927G>T	8.37:g.36721957G>T	ENSP00000382770:p.Gly643*			Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.G643*	ENST00000399881.3	37	c.1927	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525771	0.85600	.	.	ENSG00000215262	ENST00000399881	.	.	.	4.38	-0.618	0.11576	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	4.3714	0.11249	0.3738:0.1608:0.4654:0.0	.	.	.	.	X	643	.	ENSP00000382770:G643X	G	+	1	0	KCNU1	36841115	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.275000	0.18698	-0.130000	0.11599	0.650000	0.86243	GGA	KCNU1	-	NULL	ENSG00000215262		0.448	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0	52	0	G	NM_001031836		36721957	1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	0.000	T	T	36721957	G	T	36721957	4	4	131	1	0	0	0	0	0	1	0	0	8120	1233	43	3	2001	3	KCNU1	8	36721957	Nonsense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	14282913	36721957	109642065	83	33596											
EXT1	2131	genome.wustl.edu	37	chr8	118812031	118812031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggggtcgagcctcatctGagagtggatcagcggcatgt	8	8	16	9	3	3	1	2	1	1	1	4	5	3	2	1	4	2	1	1	4	0	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr8:118812031G>T	ENST00000378204.2	-	11	2967	c.2161C>A	c.(2161-2163)Cag>Aag	p.Q721K		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	721					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGCCTCATCTGAGAGTGGATC	0.547			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													86	83	84					8																	118812031		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2161C>A	8.37:g.118812031G>T	ENSP00000367446:p.Gln721Lys		B2R7V2|Q9BVI9	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.Q721K	ENST00000378204.2	37	c.2161	CCDS6324.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.069513	0.93950	.	.	ENSG00000182197	ENST00000378204	D	0.85773	-2.03	5.96	5.96	0.96718	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.052886	0.85682	D	0.000000	D	0.91835	0.7416	M	0.86420	2.815	0.80722	D	1	P	0.47253	0.892	P	0.52031	0.688	D	0.91828	0.5473	10	0.56958	D	0.05	-10.214	20.422	0.99049	0.0:0.0:1.0:0.0	.	721	Q16394	EXT1_HUMAN	K	721	ENSP00000367446:Q721K	ENSP00000367446:Q721K	Q	-	1	0	EXT1	118881212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	CAG	EXT1	-	pfam_HexNAc_Trfase_a	ENSG00000182197		0.547	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3		0	23	0	G	NM_000127		118812031	-1			no_errors	ENST00000378204	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	118812031	G	T	118812031	3	4	131	1	0	0	0	0	1	0	0	0	5339	1299	45	3	83	3	EXT1	8	118812031	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	82090074	118812031	27551991	84	33597											
ARC	23237	genome.wustl.edu	37	chr8	143694754	143694754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtccagcggctcgccctgCttctgcggcaggtccagctc	3	9	13	16	3	1	0	0	0	1	0	5	0	3	0	3	4	4	4	3	4	0	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr8:143694754C>A	ENST00000356613.2	-	1	2079	c.879G>T	c.(877-879)aaG>aaT	p.K293N	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)				GCTCGCCCTGCTTCTGCGGCA	0.637																																																	0													36	37	37					8																	143694754		2203	4300	6503	SO:0001583	missense	0			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.879G>T	8.37:g.143694754C>A	ENSP00000349022:p.Lys293Asn		B4DFL0|O60937	Missense_Mutation	SNP	prints_Activity-reg_cytoskelet-assoc	p.K293N	ENST00000356613.2	37	c.879	CCDS34950.1	8	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622369	0.66787	.	.	ENSG00000198576	ENST00000356613	T	0.30714	1.52	4.92	2.73	0.32206	.	0.096585	0.42964	U	0.000624	T	0.27629	0.0679	N	0.19112	0.55	0.36335	D	0.859092	D	0.61697	0.99	P	0.55824	0.785	T	0.21042	-1.0257	10	0.45353	T	0.12	.	6.3926	0.21595	0.0:0.6199:0.0:0.3801	.	293	Q7LC44	ARC_HUMAN	N	293	ENSP00000349022:K293N	ENSP00000349022:K293N	K	-	3	2	ARC	143691756	0.997000	0.39634	1.000000	0.80357	0.929000	0.56500	0.452000	0.21795	1.066000	0.40716	0.462000	0.41574	AAG	ARC	-	NULL	ENSG00000198576		0.637	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ARC	HGNC	protein_coding	OTTHUMT00000259274.2	-	0	60	0	C			143694754	-1	tier1	-	no_errors	ENST00000356613	ensembl	human	known	74_37	missense	30.56	50	22	SNP	1.000	A	A	143694754	C	A	143694754	3	1	131	1	0	0	0	0	1	0	0	0	841	796	28	3	315	3	ARC	8	143694754	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	24882723	143694754	2669268	85	33598											
KANK1	23189	genome.wustl.edu	37	chr9	712709	712709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaggagtgcgcctcccGgggcgtgaacactgaggctg	8	6	15	12	3	0	2	0	2	0	0	2	3	2	3	3	4	2	1	3	4	2	0	rs575779520		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:712709G>A	ENST00000382303.1	+	7	2595	c.1943G>A	c.(1942-1944)cGg>cAg	p.R648Q	KANK1_ENST00000382293.3_Missense_Mutation_p.R490Q|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.R648Q	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	648					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)		TGCGCCTCCCGGGGCGTGAAC	0.547													G|||	1	0.000199681	0	0	5008	,	,		21409	0		0	False		,,,				2504	0.001																0													50	41	44					9																	712709		2203	4300	6503	SO:0001583	missense	0			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.1943G>A	9.37:g.712709G>A	ENSP00000371740:p.Arg648Gln		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R648Q	ENST00000382303.1	37	c.1943	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	g	5.605	0.296459	0.10622	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.16743	2.32;2.32;2.32	5.97	1.63	0.23807	.	0.270131	0.26792	N	0.022473	T	0.11410	0.0278	L	0.31752	0.955	0.80722	D	1	B;B	0.24576	0.002;0.106	B;B	0.09377	0.002;0.004	T	0.13469	-1.0508	10	0.31617	T	0.26	-10.2125	11.7975	0.52108	0.2816:0.0:0.7184:0.0	.	648;648	Q5W0W1;Q14678	.;KANK1_HUMAN	Q	648;648;648;490	ENSP00000371740:R648Q;ENSP00000371734:R648Q;ENSP00000371730:R490Q	ENSP00000346479:R648Q	R	+	2	0	KANK1	702709	0.868000	0.29978	0.278000	0.24718	0.162000	0.22319	1.771000	0.38542	0.433000	0.26313	-0.137000	0.14449	CGG	KANK1	-	NULL	ENSG00000107104		0.547	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	-	0	24	0	G	NM_015158		712709	1	tier1	-	no_errors	ENST00000382297	ensembl	human	known	74_37	missense	73.91	6	17	SNP	0.898	A	A	712709	G	A	712709	3	1	131	1	0	0	0	0	1	0	0	0	8003	1116	39	1	1949	1	KANK1	9	712709	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		712709	140500722	86	33599											
SLC1A1	6505	genome.wustl.edu	37	chr9	4585394	4585394	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctctccaagaaggagctgGagcagatggatgtttcatct	11	10	12	8	0	3	2	1	0	2	2	4	5	3	5	1	3	3	4	1	3	2	1	rs201892735		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:4585394G>T	ENST00000262352.3	+	12	1647	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	471					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GAAGGAGCTGGAGCAGATGGA	0.502																																																	0													130	100	110					9																	4585394		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"Solute carriers"	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1411G>T	9.37:g.4585394G>T	ENSP00000262352:p.Glu471*		O75587|Q5VZ24|Q8N199|Q9UEW2	Nonsense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.E471*	ENST00000262352.3	37	c.1411	CCDS6452.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.141287|4.141287	0.77775|0.77775	.|.	.|.	ENSG00000106688|ENSG00000106688	ENST00000262352|ENST00000422398	.|.	.|.	.|.	5.71|5.71	4.79|4.79	0.61399|0.61399	.|.	0.143538|.	0.64402|.	D|.	0.000008|.	.|T	.|0.72763	.|0.3501	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72547	.|-0.4260	.|4	0.16896|.	T|.	0.51|.	.|.	16.4975|16.4975	0.84249|0.84249	0.0:0.1312:0.8688:0.0|0.0:0.1312:0.8688:0.0	.|.	.|.	.|.	.|.	X|V	471|188	.|.	ENSP00000262352:E471X|.	E|G	+|+	1|2	0|0	SLC1A1|SLC1A1	4575394|4575394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.390000|5.390000	0.66261|0.66261	1.376000|1.376000	0.46267|0.46267	0.563000|0.563000	0.77884|0.77884	GAG|GGA	SLC1A1	-	NULL	ENSG00000106688		0.502	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A1	HGNC	protein_coding	OTTHUMT00000051571.1	-	0	54	0	G			4585394	1	tier1	-	no_errors	ENST00000262352	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	T	T	4585394	G	T	4585394	4	4	131	1	0	0	0	0	0	1	0	0	14476	1175	41	3	1457	3	SLC1A1	9	4585394	Nonsense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	3872685	4585394	136628037	87	33600											
CDKN2A	1029	genome.wustl.edu	37	chr9	21971208	21971208	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgcccatcatcatgacCtgccagagagaacagaatgg	12	6	11	12	1	2	4	2	1	0	3	2	5	2	4	3	1	3	1	3	1	2	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:21971208C>T	ENST00000304494.5	-	2	421		c.e2-1		CDKN2A_ENST00000579755.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCATCATGACCTGCCAGAGAG	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1355	Whole gene deletion(1316)|Unknown(38)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(277)|skin(175)|central_nervous_system(162)|lung(146)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(60)|soft_tissue(57)|pleura(51)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CS014428|CS067079	CDKN2A	S							8	9	8					9																	21971208		2072	4134	6206	SO:0001630	splice_region_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.151-1G>A	9.37:g.21971208C>T			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	-	e2-1	ENST00000304494.5	37	c.317-1	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392055	0.62066	.	.	ENSG00000147889	ENST00000361570;ENST00000304494;ENST00000530628;ENST00000446177	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0183	0.92902	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21961208	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.822000	0.75277	2.781000	0.95711	0.555000	0.69702	.	CDKN2A	-	-	ENSG00000147889		0.667	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0	8	0	C	NM_000077	Intron	21971208	-1	tier1	-	no_errors	ENST00000361570	ensembl	human	known	74_37	splice_site	73.33	4	11	SNP	1.000	T	T	21971208	C	T	21971208	5	4	131	1	0	0	0	0	0	0	1	0	3168	695	24	3	328	3	CDKN2A	9	21971208	Splice_Site	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	17385814	21971208	119242223	88	33601											
TAF1L	138474	genome.wustl.edu	37	chr9	32631847	32631847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttgctcttgaatcctcCgccgttctttccgcatctct	4	16	6	15	3	4	1	1	1	3	0	8	1	7	1	4	0	1	4	4	0	1	4	rs371427336		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:32631847C>T	ENST00000242310.4	-	1	3820	c.3731G>A	c.(3730-3732)cGg>cAg	p.R1244Q	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	1244					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1244Q(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGAATCCTCCGCCGTTCTTT	0.458																																																	1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	0,4406		0,0,2203	94	92	93		3731	-0.1	0.9	9		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAF1L	NM_153809.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1244/1827	32631847	1,13005	2203	4300	6503	SO:0001583	missense	0			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.3731G>A	9.37:g.32631847C>T	ENSP00000418379:p.Arg1244Gln		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R1244Q	ENST00000242310.4	37	c.3731	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259516	0.59321	0.0	1.16E-4	ENSG00000122728	ENST00000242310	T	0.09630	2.96	1.04	-0.0542	0.13815	.	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	L	0.52573	1.65	0.48762	D	0.999701	D	0.89917	1.0	D	0.73380	0.98	T	0.02813	-1.1107	10	0.72032	D	0.01	.	4.9434	0.13976	0.0:0.7269:0.0:0.2731	.	1244	Q8IZX4	TAF1L_HUMAN	Q	1244	ENSP00000418379:R1244Q	ENSP00000418379:R1244Q	R	-	2	0	TAF1L	32621847	1.000000	0.71417	0.933000	0.37362	0.233000	0.25261	4.926000	0.63433	0.507000	0.28148	0.195000	0.17529	CGG	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	-	0	45	0	C			32631847	-1	tier1	-	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	67.50	26	54	SNP	1.000	T	T	32631847	C	T	32631847	3	4	131	1	0	0	0	0	1	0	0	0	15570	652	23	1	1753	1	TAF1L	9	32631847	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	10660639	32631847	108581584	89	33602											
UBAP1	51271	genome.wustl.edu	37	chr9	34241623	34241623	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cagttattggacaataacttGcccaggggaggctctgggtc	9	10	13	9	0	1	0	0	0	1	0	2	2	1	2	1	5	2	2	1	5	3	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:34241623G>T	ENST00000297661.4	+	4	835	c.600G>T	c.(598-600)ttG>ttT	p.L200F	UBAP1_ENST00000545103.1_Missense_Mutation_p.L264F|UBAP1_ENST00000540348.1_Missense_Mutation_p.L200F|UBAP1_ENST00000379186.4_Missense_Mutation_p.L200F|UBAP1_ENST00000536252.1_Missense_Mutation_p.L200F|UBAP1_ENST00000543944.1_Missense_Mutation_p.L236F|UBAP1_ENST00000359544.2_Missense_Mutation_p.L200F	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	200					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			ACAATAACTTGCCCAGGGGAG	0.463																																					NSCLC(109;1074 1634 14978 20375 39620)												0													55	58	57					9																	34241623		2203	4300	6503	SO:0001583	missense	0			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"ubiquitin associated protein"	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.600G>T	9.37:g.34241623G>T	ENSP00000297661:p.Leu200Phe		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.L264F	ENST00000297661.4	37	c.792	CCDS6550.1	9	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983939	0.53827	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.52754	0.68;0.67;0.72;0.72;0.72;0.65;0.72	6.17	3.32	0.38043	.	0.417742	0.25738	N	0.028632	T	0.36441	0.0967	L	0.47716	1.5	0.37321	D	0.909559	B;B;B;B	0.28350	0.006;0.015;0.208;0.006	B;B;B;B	0.26770	0.013;0.023;0.073;0.013	T	0.30650	-0.9971	10	0.37606	T	0.19	-23.4238	7.034	0.24983	0.2034:0.1227:0.674:0.0	.	264;236;264;200	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	F	264;236;200;200;200;200;200	ENSP00000441024:L264F;ENSP00000439806:L236F;ENSP00000440456:L200F;ENSP00000439976:L200F;ENSP00000297661:L200F;ENSP00000368484:L200F;ENSP00000352541:L200F	ENSP00000297661:L200F	L	+	3	2	UBAP1	34231623	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.939000	0.28978	0.924000	0.37069	-0.140000	0.14226	TTG	UBAP1	-	NULL	ENSG00000165006		0.463	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	HGNC	protein_coding	OTTHUMT00000001084.1		0	46	0	G			34241623	1			no_errors	ENST00000545103	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T	T	34241623	G	T	34241623	3	4	131	1	0	0	0	0	1	0	0	0	16885	1310	46	3	847	3	UBAP1	9	34241623	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	1609776	34241623	106971808	90	33603											
ABCA1	19	genome.wustl.edu	37	chr9	107555517	107555517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaccaccccttccacGgccatggcgaagaggtttcg	11	6	10	14	3	0	2	0	0	0	2	2	3	1	2	5	3	1	1	5	3	3	2	rs371988457		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:107555517G>A	ENST00000374736.3	-	41	5965	c.5571C>T	c.(5569-5571)gcC>gcT	p.A1857A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1857					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)	CCCCTTCCACGGCCATGGCGA	0.507																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	147	127	134		5571	-11.9	0.1	9		134	0,8600		0,0,4300	no	coding-synonymous	ABCA1	NM_005502.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1857/2262	107555517	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.5571C>T	9.37:g.107555517G>A			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A1857	ENST00000374736.3	37	c.5571	CCDS6762.1	9																																																																																			ABCA1	-	NULL	ENSG00000165029		0.507	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	-	0	91	0	G	NM_005502		107555517	-1	tier1	-	no_errors	ENST00000374736	ensembl	human	known	74_37	silent	82.61	8	38	SNP	0.016	A	A	107555517	G	A	107555517	2	1	131	1	0	0	0	0	0	0	0	1	28	1103	39	1		1	ABCA1	9	107555517	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	73313894	107555517	33657914	91	33604											
DBC1	1620	genome.wustl.edu	37	chr9	121930291	121930291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcgatacagcttgtagcCcttgttgcaggagccgcaga	8	9	12	12	2	0	1	0	0	0	1	1	3	0	2	3	1	5	5	3	1	2	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:121930291C>A	ENST00000265922.3	-	8	1818	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	453					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)											AGCTTGTAGCCCTTGTTGCAG	0.612																																																	0													65	62	63					9																	121930291		2203	4300	6503	SO:0001583	missense	0			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.1357G>T	9.37:g.121930291C>A	ENSP00000265922:p.Gly453Cys		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.G453C	ENST00000265922.3	37	c.1357	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009548	0.75046	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.72835	-0.69	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.83394	0.5245	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84502	0.0617	10	0.87932	D	0	-26.61	19.5083	0.95130	0.0:1.0:0.0:0.0	.	453	O60477	DBC1_HUMAN	C	453	ENSP00000265922:G453C	ENSP00000265922:G453C	G	-	1	0	DBC1	120970112	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.600000	0.87896	0.655000	0.94253	GGC	BRINP1	-	NULL	ENSG00000078725		0.612	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	18	0	C	NM_014618		121930291	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	57.69	11	15	SNP	1.000	A	A	121930291	C	A	121930291	3	1	131	1	0	0	0	0	1	0	0	0	4256	623	22	3	932	3	DBC1	9	121930291	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	14374774	121930291	19283140	92	33605											
FBXW2	26190	genome.wustl.edu	37	chr9	123538400	123538400	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccattccgtgtgcccggtgaGtgtgttcaggcatgtcccag	5	11	13	12	2	1	1	1	1	0	0	3	1	3	1	4	2	1	2	4	2	0	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:123538400G>T	ENST00000608872.1	-	5	977	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	FBXW2_ENST00000493559.1_5'UTR|FBXW2_ENST00000340778.5_Missense_Mutation_p.L199I	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	264					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGCCCGGTGAGTGTGTTCAGG	0.512																																																	0													143	147	145					9																	123538400		2031	4186	6217	SO:0001583	missense	0			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.790C>A	9.37:g.123538400G>T	ENSP00000476369:p.Leu264Ile		B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L264I	ENST00000608872.1	37	c.790	CCDS43872.1	9	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683710	0.88639	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833;ENST00000453291	T;T;T	0.24151	1.93;1.87;1.93	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.129967	0.53938	D	0.000059	T	0.31734	0.0806	M	0.73598	2.24	0.58432	D	0.999994	P;B;B	0.44816	0.844;0.267;0.062	B;B;B	0.37833	0.259;0.039;0.027	T	0.32375	-0.9909	10	0.62326	D	0.03	-3.8833	16.5457	0.84445	0.0:0.0:1.0:0.0	.	199;264;264	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	I	264;199;264;135	ENSP00000363036:L264I;ENSP00000341161:L199I;ENSP00000398662:L135I	ENSP00000341161:L199I	L	-	1	0	FBXW2	122578221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.794000	0.62482	2.562000	0.86427	0.563000	0.77884	CTC	FBXW2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000119402		0.512	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2	-	0	50	0	G			123538400	-1	tier1	-	no_errors	ENST00000608872	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	123538400	G	T	123538400	3	4	131	1	0	0	0	0	1	0	0	0	5788	1029	36	3	590	3	FBXW2	9	123538400	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	1608109	123538400	17675031	93	33606											
CERCAM	51148	genome.wustl.edu	37	chr9	131186799	131186800	+	Frame_Shift_Ins	INS	-	-	G																															ttgcatccctgcgggctgaaINSggggcagaccagcttgcttt																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:131186799_131186800insG	ENST00000372838.4	+	5	1070_1071	c.672_673insG	c.(673-675)gggfs	p.G225fs	CERCAM_ENST00000372842.1_Frame_Shift_Ins_p.G147fs	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	225					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						TGCGGGCTGAAGGGGCAGACCA	0.624																																																	0																																										SO:0001589	frameshift_variant	0			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.676dupG	9.37:g.131186803_131186803dupG	ENSP00000361929:p.Gly225fs		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Frame_Shift_Ins	INS	pfam_Glyco_trans_25	p.A225fs	ENST00000372838.4	37	c.672_673	CCDS6901.2	9																																																																																			CERCAM	-	NULL	ENSG00000167123		0.624	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2		0	31	0	-	NM_016174		131186800	1	tier1		no_errors	ENST00000372838	ensembl	human	known	74_37	frame_shift_ins	13.89	31	5	INS	0.996:0.989	G	G	131186800	-	G	131186799	7	5	131	1	0	1	1	0	0	0	0	0	3273	69	3	0	690	0	CERCAM	9	131186799	Frame_Shift_Ins	INS	-	TCGA-LN-A8I1-01A-11D-A36J-09	7648399	131186799	10026632	94	33607											
FNBP1	23048	genome.wustl.edu	37	chr9	132687355	132687355	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgacacagtgcgcttcaTtggctgagtgtaatcctcaa	10	12	9	10	1	3	2	2	2	1	0	4	2	4	2	1	1	1	3	1	1	2	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:132687355T>C	ENST00000446176.2	-	9	1057	c.871A>G	c.(871-873)Atg>Gtg	p.M291V	FNBP1_ENST00000420781.1_Missense_Mutation_p.M291V|FNBP1_ENST00000355681.3_Missense_Mutation_p.M291V|FNBP1_ENST00000478129.1_5'UTR	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	291	Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTGCGCTTCATTGGCTGAGTG	0.428			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													146	135	139					9																	132687355		1877	4120	5997	SO:0001583	missense	0			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.871A>G	9.37:g.132687355T>C	ENSP00000413625:p.Met291Val		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.M291V	ENST00000446176.2	37	c.871	CCDS48040.1	9	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500549	0.44455	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.18502	2.21;2.21;2.21	5.34	5.34	0.76211	.	0.039444	0.85682	D	0.000000	T	0.18045	0.0433	L	0.54323	1.7	0.80722	D	1	B;B;B;B;B;B;B	0.16396	0.008;0.017;0.001;0.005;0.017;0.014;0.001	B;B;B;B;B;B;B	0.22753	0.01;0.025;0.004;0.009;0.041;0.023;0.007	T	0.05599	-1.0875	10	0.11485	T	0.65	-42.1948	14.8033	0.69932	0.0:0.0:0.0:1.0	.	291;291;291;291;252;291;291	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.;.;.;.;.;.;FNBP1_HUMAN	V	291	ENSP00000413625:M291V;ENSP00000407548:M291V;ENSP00000347907:M291V	ENSP00000347907:M291V	M	-	1	0	FNBP1	131727176	1.000000	0.71417	0.952000	0.39060	0.991000	0.79684	5.824000	0.69279	2.146000	0.66826	0.379000	0.24179	ATG	FNBP1	-	NULL	ENSG00000187239		0.428	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	-	0	62	0	T			132687355	-1	tier1	-	no_errors	ENST00000446176	ensembl	human	known	74_37	missense	60.56	28	43	SNP	0.998	C	C	132687355	T	C	132687355	3	2	131	1	0	0	0	0	1	0	0	0	5987	1493	52	4	1018	4	FNBP1	9	132687355	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	1500556	132687355	8526076	95	33608											
DCLRE1C	64421	genome.wustl.edu	37	chr10	14951315	14951315	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaggatcatcaaagagatAgtcatcttcctcctctgtgg	11	11	9	10	0	5	2	3	0	2	2	7	4	7	3	2	2	0	0	2	2	2	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:14951315A>G	ENST00000378278.2	-	14	1208	c.1171T>C	c.(1171-1173)Tat>Cat	p.Y391H	DCLRE1C_ENST00000378249.1_Missense_Mutation_p.Y276H|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.Y271H|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.Y44H|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.Y271H|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.Y271H|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.Y271H|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.Y276H|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.Y271H|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.Y276H			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	391					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						TCAAAGAGATAGTCATCTTCC	0.383								Non-homologous end-joining																																									0													41	44	43					10																	14951315		2197	4295	6492	SO:0001583	missense	0			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.1171T>C	10.37:g.14951315A>G	ENSP00000367527:p.Tyr391His		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.Y391H	ENST00000378278.2	37	c.1171	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	A	4.754	0.140216	0.09083	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T	0.75154	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.91;-0.36	5.77	4.86	0.63082	.	0.384757	0.27358	N	0.019740	T	0.63885	0.2549	N	0.22421	0.69	0.09310	N	1	B;B	0.23490	0.086;0.065	B;B	0.28139	0.086;0.059	T	0.51553	-0.8691	10	0.25751	T	0.34	.	16.3166	0.82930	0.135:0.865:0.0:0.0	.	276;391	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	H	271;276;276;276;271;271;271;391;271;44	ENSP00000400529:Y271H;ENSP00000367492:Y276H;ENSP00000350349:Y276H;ENSP00000367496:Y276H;ENSP00000380030:Y271H;ENSP00000367503:Y271H;ENSP00000367502:Y271H;ENSP00000367527:Y391H;ENSP00000367506:Y271H	ENSP00000350349:Y276H	Y	-	1	0	DCLRE1C	14991321	0.090000	0.21635	0.028000	0.17463	0.600000	0.36913	2.067000	0.41461	1.437000	0.47472	-0.174000	0.13273	TAT	DCLRE1C	-	NULL	ENSG00000152457		0.383	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	-	0	36	0	A	NM_022487		14951315	-1	tier1	-	no_errors	ENST00000378278	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.313	G	G	14951315	A	G	14951315	3	3	131	1	0	0	0	0	1	0	0	0	4305	420	15	4	911	4	DCLRE1C	10	14951315	Missense_Mutation	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09		14951315	120583432	96	33609											
C10orf114	399726	genome.wustl.edu	37	chr10	21784563	21784563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgaaatcgctagctgcgcatCcgcggaagaagtcctggatg	10	7	13	11	5	0	1	0	0	0	1	3	4	2	3	2	2	2	3	2	2	4	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:21784563C>T	ENST00000377113.5	-	2	824	c.377G>A	c.(376-378)gGa>gAa	p.G126E	MIR1915_ENST00000410139.1_RNA	NM_001010911.2	NP_001010911.1	Q5T4H9	CSC10_HUMAN	cancer susceptibility candidate 10	126																	AGCTGCGCATCCGCGGAAGAA	0.567											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													77	92	87					10																	21784563		2203	4300	6503	SO:0001583	missense	0			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.377G>A	10.37:g.21784563C>T	ENSP00000366317:p.Gly126Glu	751	A1L4M3	Missense_Mutation	SNP	NULL	p.G126E	ENST00000377113.5	37	c.377	CCDS31163.1	10	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273480	0.40194	.	.	ENSG00000204682	ENST00000377113	T	0.58652	0.32	3.99	3.08	0.35506	.	.	.	.	.	T	0.54111	0.1838	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41520	-0.9504	9	0.87932	D	0	-2.1216	7.55	0.27790	0.0:0.8805:0.0:0.1195	.	126	Q5T4H9	CJ114_HUMAN	E	126	ENSP00000366317:G126E	ENSP00000366317:G126E	G	-	2	0	C10orf114	21824569	0.199000	0.23386	0.017000	0.16124	0.017000	0.09413	1.206000	0.32321	1.030000	0.39839	0.305000	0.20034	GGA	CASC10	-	NULL	ENSG00000204682		0.567	CASC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC10	HGNC	protein_coding	OTTHUMT00000047130.2	-	0	54	0	C	NM_001010911		21784563	-1	tier1	-	no_errors	ENST00000377113	ensembl	human	known	74_37	missense	19.64	45	11	SNP	0.057	T	T	21784563	C	T	21784563	3	4	131	1	0	0	0	0	1	0	0	0	1590	855	30	3	37	3	C10orf114	10	21784563	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	6833248	21784563	113750184	97	33610											
ZNF33A	7581	genome.wustl.edu	37	chr10	38343702	38343702	+	Missense_Mutation	SNP	A	A	G	1	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	gaagattcaaactttagagcAcaattttgaatacagtatat	17	13	6	5	0	1	3	1	1	0	2	1	4	1	3	0	0	3	2	0	0	8	8			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:38343702A>G	ENST00000458705.2	+	5	805	c.647A>G	c.(646-648)cAc>cGc	p.H216R	ZNF33A_ENST00000307441.9_Missense_Mutation_p.H216R|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.H217R|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H223R			Q06730	ZN33A_HUMAN	zinc finger protein 33A	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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACTTTAGAGCACAATTTTGAA	0.353																																																	0													82	81	82					10																	38343702		2203	4300	6503	SO:0001583	missense	0			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.647A>G	10.37:g.38343702A>G	ENSP00000387713:p.His216Arg		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H223R	ENST00000458705.2	37	c.668	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627304	0.28978	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.05081	3.54;3.5;3.5;3.5	2.26	-0.579	0.11720	.	0.469523	0.15964	N	0.236124	T	0.03608	0.0103	N	0.22421	0.69	0.22412	N	0.99913	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.06405	0.001;0.0;0.002	T	0.37267	-0.9713	10	0.51188	T	0.08	.	2.6142	0.04899	0.6184:0.0:0.1524:0.2293	.	223;216;217	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	R	217;223;216;216	ENSP00000363747:H217R;ENSP00000402467:H223R;ENSP00000387713:H216R;ENSP00000304268:H216R	ENSP00000304268:H216R	H	+	2	0	ZNF33A	38383708	0.000000	0.05858	0.220000	0.23810	0.542000	0.35054	0.083000	0.14871	-0.287000	0.09064	0.377000	0.23210	CAC	ZNF33A	-	NULL	ENSG00000189180		0.353	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	-	0	61	0	A	NM_006974		38343702	1	tier1	-	no_errors	ENST00000432900	ensembl	human	known	74_37	missense	41.30	27	19	SNP	0.869	G	G	38343702	A	G	38343702	3	3	131	1	0	0	0	0	1	0	0	0	17902	159	6	4	664	4	ZNF33A	10	38343702	Missense_Mutation	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09	16559139	38343702	97191045	98	33611											
SPOCK2	9806	genome.wustl.edu	37	chr10	73827480	73827480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagccaggtcctgaccGgtgcaagtctctgcagaaca	10	7	12	12	1	2	2	1	1	1	1	4	2	3	2	3	3	4	2	3	3	2	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:73827480G>A	ENST00000373109.2	-	7	1044	c.600C>T	c.(598-600)acC>acT	p.T200T	SPOCK2_ENST00000536168.1_Silent_p.T200T|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Silent_p.T200T	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	200					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGTCCTGACCGGTGCAAGTCT	0.607																																																	0													32	30	31					10																	73827480		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.600C>T	10.37:g.73827480G>A			C9J767|Q6UW87	Silent	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.T200	ENST00000373109.2	37	c.600	CCDS7313.1	10																																																																																			SPOCK2	-	pfam_SPARC/Testican_Ca-bd-dom	ENSG00000107742		0.607	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK2	HGNC	protein_coding	OTTHUMT00000048560.2		0	27	0	G			73827480	-1			no_errors	ENST00000317376	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.000	A	A	73827480	G	A	73827480	2	1	131	1	0	0	0	0	0	0	0	1	15127	1103	39	1		1	SPOCK2	10	73827480	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	35483778	73827480	61707267	99	33612											
HECTD2	143279	genome.wustl.edu	37	chr10	93250956	93250956	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttactttcttatttaatcaGcaaagtctggtggataaagt	12	17	7	5	0	3	0	1	0	2	0	3	1	3	1	0	2	2	1	0	2	6	7			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:93250956G>A	ENST00000298068.5	+	12	1285		c.e12-1		HECTD2_ENST00000446394.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TATTTAATCAGCAAAGTCTGG	0.284																																					NSCLC(12;376 469 1699 39910 41417)												0													37	40	39					10																	93250956		2202	4280	6482	SO:0001630	splice_region_variant	0			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1192-1G>A	10.37:g.93250956G>A			Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Splice_Site	SNP	-	e13-1	ENST00000298068.5	37	c.1204-1	CCDS7414.1	10	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228348	0.79576	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000371667	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6169	0.91305	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECTD2	93240936	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.017000	0.93651	2.447000	0.82792	0.655000	0.94253	.	HECTD2	-	-	ENSG00000165338		0.284	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD2	HGNC	protein_coding	OTTHUMT00000098620.1		0	135	0	G		Intron	93250956	1			no_errors	ENST00000446394	ensembl	human	known	74_37	splice_site	6.25	60	4	SNP	1.000	A	A	93250956	G	A	93250956	5	1	131	1	0	0	0	0	0	0	1	0	7067	985	34	3	1261	3	HECTD2	10	93250956	Splice_Site	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	19423476	93250956	42283791	100	33613											
HIF1AN	55662	genome.wustl.edu	37	chr10	102304740	102304740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcactatgatgagcagCagaacttttttgctcagata	11	13	8	9	0	2	4	2	2	0	2	2	4	2	4	0	0	5	4	0	0	3	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:102304740C>A	ENST00000299163.6	+	4	710	c.610C>A	c.(610-612)Cag>Aag	p.Q204K		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	204	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TGATGAGCAGCAGAACTTTTT	0.443																																																	0													98	91	94					10																	102304740		2203	4300	6503	SO:0001583	missense	0			AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"Peptide-aspartate beta-dioxygenase"	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.610C>A	10.37:g.102304740C>A	ENSP00000299163:p.Gln204Lys		D3DR69|Q5W147|Q969Q7|Q9NPV5	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.Q204K	ENST00000299163.6	37	c.610	CCDS7498.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.111083	0.94339	.	.	ENSG00000166135	ENST00000533589;ENST00000299163;ENST00000442724	T;T	0.21361	2.01;2.01	5.82	5.82	0.92795	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.02901	-1.1096	10	0.09084	T	0.74	-4.6558	20.093	0.97828	0.0:1.0:0.0:0.0	.	204	Q9NWT6	HIF1N_HUMAN	K	97;204;237	ENSP00000433360:Q97K;ENSP00000299163:Q204K	ENSP00000299163:Q204K	Q	+	1	0	HIF1AN	102294730	1.000000	0.71417	0.989000	0.46669	0.914000	0.54420	7.818000	0.86416	2.756000	0.94617	0.561000	0.74099	CAG	HIF1AN	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000166135		0.443	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIF1AN	HGNC	protein_coding	OTTHUMT00000049865.5	-	0	44	0	C	NM_017902		102304740	1	tier1	-	no_errors	ENST00000299163	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	102304740	C	A	102304740	3	1	131	1	0	0	0	0	1	0	0	0	7131	711	25	3	624	3	HIF1AN	10	102304740	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	9053784	102304740	33230007	101	33614											
C10orf76	79591	genome.wustl.edu	37	chr10	103716479	103716479	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatattaaataggttcacaAtctaaaaaagaaggaaaggc	21	8	7	5	0	2	1	1	0	1	1	2	2	2	2	0	3	0	1	0	3	10	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:103716479A>G	ENST00000370033.4	-	22	1699	c.1580T>C	c.(1579-1581)aTt>aCt	p.I527T		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	527						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)		TAGGTTCACAATCTAAAAAAG	0.398																																																	0													58	56	57					10																	103716479		1837	4077	5914	SO:0001630	splice_region_variant	0			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.1579-1T>C	10.37:g.103716479A>G			Q2TB87|Q9H8Z9	Missense_Mutation	SNP	pfam_DUF1741,superfamily_ARM-type_fold	p.I527T	ENST00000370033.4	37	c.1580	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475033	0.63737	.	.	ENSG00000120029	ENST00000370033;ENST00000431271	T	0.69561	-0.41	5.96	5.96	0.96718	Domain of unknown function DUF1741 (1);	0.164390	0.53938	D	0.000052	T	0.55273	0.1910	N	0.20685	0.6	0.80722	D	1	B	0.12013	0.005	B	0.21151	0.033	T	0.51980	-0.8636	10	0.52906	T	0.07	-12.7772	16.1181	0.81324	1.0:0.0:0.0:0.0	.	527	Q5T2E6	CJ076_HUMAN	T	527;102	ENSP00000359050:I527T	ENSP00000359050:I527T	I	-	2	0	C10orf76	103706469	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.932000	0.92897	2.284000	0.76573	0.528000	0.53228	ATT	C10orf76	-	pfam_DUF1741,superfamily_ARM-type_fold	ENSG00000120029		0.398	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	HGNC	protein_coding	OTTHUMT00000050007.1	-	0	26	0	A	NM_024541	Missense_Mutation	103716479	-1	tier1	-	no_errors	ENST00000370033	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	G	G	103716479	A	G	103716479	5	3	131	1	0	0	0	0	0	0	1	0	1621	115	4	4	509	4	C10orf76	10	103716479	Splice_Site	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09	1411739	103716479	31818268	102	33615											
PPRC1	23082	genome.wustl.edu	37	chr10	103901420	103901420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctcctcagacagagcCtaccaaggtggaggtcaagc	11	6	13	11	0	2	2	2	0	0	2	3	4	3	4	3	4	4	1	3	4	3	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:103901420C>T	ENST00000278070.2	+	5	3194	c.3155C>T	c.(3154-3156)cCt>cTt	p.P1052L	PPRC1_ENST00000370012.1_Missense_Mutation_p.P19L|PPRC1_ENST00000413464.2_Missense_Mutation_p.P1052L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1052	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAGACAGAGCCTACCAAGGTG	0.582																																																	0													86	67	74					10																	103901420		2203	4300	6503	SO:0001583	missense	0			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.3155C>T	10.37:g.103901420C>T	ENSP00000278070:p.Pro1052Leu		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P1052L	ENST00000278070.2	37	c.3155	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750962	0.49257	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.34667	1.71;1.64;1.35	5.79	1.84	0.25277	.	1.672230	0.02988	N	0.146535	T	0.28333	0.0700	L	0.32530	0.975	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.0	B;B;B	0.09377	0.002;0.004;0.002	T	0.14643	-1.0465	10	0.35671	T	0.21	.	4.5009	0.11863	0.263:0.519:0.0:0.2179	.	1052;932;1052	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	L	1052;1052;19	ENSP00000278070:P1052L;ENSP00000399743:P1052L;ENSP00000359029:P19L	ENSP00000278070:P1052L	P	+	2	0	PPRC1	103891410	0.000000	0.05858	0.379000	0.26080	0.830000	0.47004	0.497000	0.22514	0.367000	0.24454	0.462000	0.41574	CCT	PPRC1	-	NULL	ENSG00000148840		0.582	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	-	0	57	0	C	NM_015062		103901420	1	tier1	-	no_errors	ENST00000278070	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.002	T	T	103901420	C	T	103901420	3	4	131	1	0	0	0	0	1	0	0	0	12452	681	24	3	3173	3	PPRC1	10	103901420	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	184941	103901420	31633327	103	33616											
SH3PXD2A	9644	genome.wustl.edu	37	chr10	105386873	105386873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcttagaggtgttgatgtCggagtcatcccgagtaccat	9	12	12	8	2	2	2	1	1	1	1	4	4	3	3	2	2	1	2	2	2	2	3	rs147297499		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:105386873C>T	ENST00000369774.4	-	9	967	c.691G>A	c.(691-693)Gac>Aac	p.D231N	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.D93N|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D231N|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.D66N|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D98N			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	231					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GTGTTGATGTCGGAGTCATCC	0.607																																																	0								C	ASN/ASP	0,4406		0,0,2203	114	93	100		691	5.3	1	10	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SH3PXD2A	NM_014631.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	231/1106	105386873	1,13005	2203	4300	6503	SO:0001583	missense	0			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.691G>A	10.37:g.105386873C>T	ENSP00000358789:p.Asp231Asn		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.D231N	ENST00000369774.4	37	c.691		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.96|19.96	3.922734|3.922734	0.73213|0.73213	0.0|0.0	1.16E-4|1.16E-4	ENSG00000107957|ENSG00000107957	ENST00000427662;ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T;T|.	0.58210|.	0.45;0.42;0.44;0.57;0.35|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Src homology-3 domain (1);|.	0.189255|.	0.53938|.	D|.	0.000042|.	T|T	0.50188|0.50188	0.1601|0.1601	N|N	0.14661|0.14661	0.345|0.345	0.53005|0.53005	D|D	0.999964|0.999964	P;P;P;P;P|.	0.46142|.	0.693;0.731;0.873;0.731;0.796|.	B;B;B;B;B|.	0.42245|.	0.103;0.155;0.381;0.102;0.209|.	T|T	0.45716|0.45716	-0.9242|-0.9242	10|5	0.41790|.	T|.	0.15|.	-39.0659|-39.0659	17.7733|17.7733	0.88500|0.88500	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	231;108;93;104;231|.	Q5TCZ1;B7Z9L8;F8WCK5;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.;.|.	N|Q	93;231;231;66;146;98;66|185	ENSP00000392664:D93N;ENSP00000358789:D231N;ENSP00000348215:D231N;ENSP00000443663:D98N;ENSP00000441514:D66N|.	ENSP00000318135:D66N|.	D|R	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105376863|105376863	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.973000|0.973000	0.67179|0.67179	7.468000|7.468000	0.80943|0.80943	2.499000|2.499000	0.84300|0.84300	0.555000|0.555000	0.69702|0.69702	GAC|CGA	SH3PXD2A	-	superfamily_SH3_domain	ENSG00000107957		0.607	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1		0	41	0	C	NM_014631		105386873	-1			no_errors	ENST00000369774	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.989	T	T	105386873	C	T	105386873	3	4	131	1	0	0	0	0	1	0	0	0	14301	884	31	1	2650	1	SH3PXD2A	10	105386873	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	1485453	105386873	30147874	104	33617											
HTRA1	5654	genome.wustl.edu	37	chr10	124248966	124248966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctaaacgagaggtgccgGtggctagtgggtctgggttt	6	13	16	6	2	2	1	0	0	2	1	2	2	2	1	1	5	2	2	1	5	3	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:124248966G>T	ENST00000368984.3	+	3	729	c.601G>T	c.(601-603)Gtg>Ttg	p.V201L		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	201					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AGAGGTGCCGGTGGCTAGTGG	0.473																																																	0													148	146	146					10																	124248966		2203	4300	6503	SO:0001583	missense	0			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"Serine peptidases / Serine peptidases"	9476	protein-coding gene	gene with protein product		602194	"protease, serine, 11 (IGF binding)"	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.601G>T	10.37:g.124248966G>T	ENSP00000357980:p.Val201Leu		D3DRE4|Q9UNS5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.V201L	ENST00000368984.3	37	c.601	CCDS7630.1	10	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403521	0.25291	.	.	ENSG00000166033	ENST00000368984;ENST00000435263	D	0.87809	-2.3	5.13	5.13	0.70059	Peptidase cysteine/serine, trypsin-like (1);	0.062602	0.64402	D	0.000005	D	0.83686	0.5308	L	0.47716	1.5	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78628	-0.2130	10	0.20519	T	0.43	-20.2874	18.6163	0.91304	0.0:0.0:1.0:0.0	.	201	Q92743	HTRA1_HUMAN	L	201;168	ENSP00000357980:V201L	ENSP00000357980:V201L	V	+	1	0	HTRA1	124238956	1.000000	0.71417	0.959000	0.39883	0.238000	0.25445	9.722000	0.98770	2.386000	0.81285	0.650000	0.86243	GTG	HTRA1	-	superfamily_Trypsin-like_Pept_dom	ENSG00000166033		0.473	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA1	HGNC	protein_coding	OTTHUMT00000128327.1		0	75	0	G	NM_002775		124248966	1			no_errors	ENST00000368984	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	124248966	G	T	124248966	3	4	131	1	0	0	0	0	1	0	0	0	7480	1261	44	3	611	3	HTRA1	10	124248966	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	18862093	124248966	11285781	105	33618											
DOCK1	1793	genome.wustl.edu	37	chr10	129216786	129216786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacccagctgtcatgggggGcttcgcaaactacgaaaagg	11	6	14	10	2	1	0	1	0	0	0	2	2	1	1	1	5	3	3	1	5	4	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:129216786G>T	ENST00000280333.6	+	45	4719	c.4610G>T	c.(4609-4611)gGc>gTc	p.G1537V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1537	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)		GTCATGGGGGGCTTCGCAAAC	0.602																																																	0													55	66	62					10																	129216786		2200	4300	6500	SO:0001583	missense	0			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.4610G>T	10.37:g.129216786G>T	ENSP00000280333:p.Gly1537Val		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.G1537V	ENST00000280333.6	37	c.4610		10	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412668	0.62511	.	.	ENSG00000150760	ENST00000280333	T	0.72835	-0.69	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.89086	0.6615	H	0.95224	3.64	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	0.92450	0.5969	10	0.87932	D	0	.	18.0621	0.89380	0.0:0.0:1.0:0.0	.	1537;1603;1537	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	V	1537	ENSP00000280333:G1537V	ENSP00000280333:G1537V	G	+	2	0	DOCK1	129106776	1.000000	0.71417	0.613000	0.29037	0.300000	0.27592	9.595000	0.98260	2.492000	0.84095	0.555000	0.69702	GGC	DOCK1	-	pfam_DOCK_C,superfamily_Cyt_c-like_dom	ENSG00000150760		0.602	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	-	0	37	0	G	NM_001380		129216786	1	tier1	-	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	129216786	G	T	129216786	3	4	131	1	0	0	0	0	1	0	0	0	4698	1203	42	3	4788	3	DOCK1	10	129216786	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	4967820	129216786	6317961	106	33619											
BRSK2	9024	genome.wustl.edu	37	chr11	1459589	1459589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcacccccacgtcctaaaGctgcacgacgtttatgaaaa	13	7	8	13	3	0	1	0	1	0	0	1	3	1	1	3	0	3	4	3	0	5	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:1459589G>T	ENST00000528841.1	+	3	624	c.240G>T	c.(238-240)aaG>aaT	p.K80N	BRSK2_ENST00000308230.5_Missense_Mutation_p.K80N|BRSK2_ENST00000526678.1_Missense_Mutation_p.K80N|BRSK2_ENST00000308219.9_Missense_Mutation_p.K80N|BRSK2_ENST00000382179.1_Missense_Mutation_p.K126N|BRSK2_ENST00000531197.1_Missense_Mutation_p.K80N|BRSK2_ENST00000528710.1_Missense_Mutation_p.K20N			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		ACGTCCTAAAGCTGCACGACG	0.572																																																	0													116	126	123					11																	1459589		2187	4291	6478	SO:0001583	missense	0			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.240G>T	11.37:g.1459589G>T	ENSP00000432000:p.Lys80Asn		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K126N	ENST00000528841.1	37	c.378	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593888	0.66219	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528596;ENST00000524702;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	2.57	2.57	0.30868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061993	0.64402	U	0.000006	T	0.45696	0.1355	M	0.67625	2.065	0.80722	D	1	D;D;P;P;P	0.89917	0.962;1.0;0.908;0.578;0.523	P;D;B;B;B	0.85130	0.582;0.997;0.335;0.332;0.223	T	0.43956	-0.9359	10	0.45353	T	0.12	.	12.2615	0.54652	0.0:0.0:1.0:0.0	.	80;126;80;80;80	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	N	80;80;80;80;80;20;20;20;126	ENSP00000310697:K80N;ENSP00000431152:K80N;ENSP00000310805:K80N;ENSP00000432000:K80N;ENSP00000433370:K80N;ENSP00000434075:K20N;ENSP00000432672:K20N;ENSP00000433235:K20N;ENSP00000371614:K126N	ENSP00000310697:K80N	K	+	3	2	BRSK2	1416165	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.435000	0.66532	1.455000	0.47813	0.313000	0.20887	AAG	BRSK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000174672		0.572	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	-	0	39	0	G	NM_003957		1459589	1	tier1	-	no_errors	ENST00000382179	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	1459589	G	T	1459589	3	4	131	1	0	0	0	0	1	0	0	0	1528	962	34	3	250	3	BRSK2	11	1459589	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		1459589	133546927	107	33620											
OR52N2	390077	genome.wustl.edu	37	chr11	5841692	5841692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtacatcattgctgtcgtgGggaactgtgggctcatctgc	6	13	13	9	1	3	0	2	0	1	0	4	1	3	1	0	3	4	3	0	3	2	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:5841692G>T	ENST00000317037.2	+	1	149	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	43						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)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGTCGTGGGGAACTGTGG	0.547																																																	0													134	116	122					11																	5841692		2201	4296	6497	SO:0001583	missense	0			AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"GPCR / Class A : Olfactory receptors"	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.127G>T	11.37:g.5841692G>T	ENSP00000322801:p.Gly43Trp		Q6IFF9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G43W	ENST00000317037.2	37	c.127	CCDS31399.1	11	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316692	0.40996	.	.	ENSG00000180988	ENST00000317037	T	0.57107	0.42	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	T	0.81370	0.4808	H	0.94264	3.515	0.27241	N	0.959136	D	0.89917	1.0	D	0.91635	0.999	T	0.78481	-0.2187	10	0.87932	D	0	.	18.8574	0.92259	0.0:0.0:1.0:0.0	.	43	Q8NGI0	O52N2_HUMAN	W	43	ENSP00000322801:G43W	ENSP00000322801:G43W	G	+	1	0	OR52N2	5798268	0.886000	0.30341	0.931000	0.37212	0.217000	0.24651	3.699000	0.54778	2.801000	0.96364	0.655000	0.94253	GGG	OR52N2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180988		0.547	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N2	HGNC	protein_coding	OTTHUMT00000401143.1		0	29	0	G	NM_001005174		5841692	1			no_errors	ENST00000317037	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.799	T	T	5841692	G	T	5841692	3	4	131	1	0	0	0	0	1	0	0	0	11167	1232	43	3	129	3	OR52N2	11	5841692	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	4382103	5841692	129164824	108	33621											
MICAL2	9645	genome.wustl.edu	37	chr11	12247737	12247737	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactttgactctttgaatGaagatgatgctgtggagaac	12	12	11	6	0	1	6	0	4	1	2	1	7	1	6	0	1	3	2	0	1	4	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:12247737G>T	ENST00000256194.4	+	14	1996	c.1708G>T	c.(1708-1710)Gaa>Taa	p.E570*	MICAL2_ENST00000537344.1_Nonsense_Mutation_p.E570*|MICAL2_ENST00000342902.5_Nonsense_Mutation_p.E570*|MICAL2_ENST00000379612.3_Nonsense_Mutation_p.E570*|MICAL2_ENST00000527546.1_Nonsense_Mutation_p.E570*	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	570	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		CTCTTTGAATGAAGATGATGC	0.512																																																	0													109	114	112					11																	12247737		2201	4294	6495	SO:0001587	stop_gained	0			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.1708G>T	11.37:g.12247737G>T	ENSP00000256194:p.Glu570*		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.E570*	ENST00000256194.4	37	c.1708	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	41	8.679903	0.98912	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	18.7846	0.91949	0.0:0.0:1.0:0.0	.	.	.	.	X	570;103;570;570;570;570	.	ENSP00000256194:E570X	E	+	1	0	MICAL2	12204313	1.000000	0.71417	0.967000	0.41034	0.951000	0.60555	9.869000	0.99810	2.526000	0.85167	0.563000	0.77884	GAA	MICAL2	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000133816		0.512	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1		0	33	0	G	NM_014632		12247737	1			no_errors	ENST00000256194	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	1.000	T	T	12247737	G	T	12247737	4	4	131	1	0	0	0	0	0	1	0	0	9608	1291	45	3	1754	3	MICAL2	11	12247737	Nonsense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	6406045	12247737	122758779	109	33622											
ALKBH3	221120	genome.wustl.edu	37	chr11	43911359	43911359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgttccctggaaacaGaggactggcatcagagaggg	13	6	14	8	0	1	3	1	0	0	3	2	6	2	5	1	4	1	2	1	4	2	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:43911359G>T	ENST00000302708.4	+	6	762	c.351G>T	c.(349-351)caG>caT	p.Q117H	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Missense_Mutation_p.Q116H	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	117					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	CCTGGAAACAGAGGACTGGCA	0.483								Direct reversal of damage																																									0													121	112	115					11																	43911359		2203	4300	6503	SO:0001583	missense	0			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"Alkylation repair homologs"	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.351G>T	11.37:g.43911359G>T	ENSP00000302232:p.Gln117His		A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.Q117H	ENST00000302708.4	37	c.351	CCDS7906.1	11	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777187	0.49786	.	.	ENSG00000166199	ENST00000302708;ENST00000378840;ENST00000529366;ENST00000532129	T;T;T	0.14766	2.48;2.48;2.48	5.85	5.85	0.93711	.	0.121259	0.64402	D	0.000017	T	0.18087	0.0434	L	0.49778	1.585	0.49299	D	0.999777	B	0.29270	0.24	B	0.32762	0.152	T	0.01218	-1.1415	10	0.46703	T	0.11	-15.4532	16.8923	0.86090	0.0:0.0:1.0:0.0	.	117	Q96Q83	ALKB3_HUMAN	H	117;116;116;16	ENSP00000302232:Q117H;ENSP00000368117:Q116H;ENSP00000435848:Q116H	ENSP00000302232:Q117H	Q	+	3	2	ALKBH3	43867935	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.065000	0.57513	2.768000	0.95171	0.655000	0.94253	CAG	ALKBH3	-	NULL	ENSG00000166199		0.483	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH3	HGNC	protein_coding	OTTHUMT00000389693.1	-	0	41	0	G	NM_139178		43911359	1	tier1	-	no_errors	ENST00000302708	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	43911359	G	T	43911359	3	4	131	1	0	0	0	0	1	0	0	0	528	933	33	3	369	3	ALKBH3	11	43911359	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	31663622	43911359	91095157	110	33623											
OR5AS1	219447	genome.wustl.edu	37	chr11	55798389	55798389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgtgtgcctcacattcagGctgtcattttgtggctccaa	7	14	9	11	0	3	0	3	0	0	0	4	0	4	0	2	2	1	2	2	2	1	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:55798389G>T	ENST00000313555.1	+	1	495	c.495G>T	c.(493-495)agG>agT	p.R165S		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	165						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)					TCACATTCAGGCTGTCATTTT	0.433																																																	0													265	249	254					11																	55798389		2201	4296	6497	SO:0001583	missense	0			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.495G>T	11.37:g.55798389G>T	ENSP00000324111:p.Arg165Ser		Q6IFB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R165S	ENST00000313555.1	37	c.495	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	G	8.301	0.819821	0.16678	.	.	ENSG00000181785	ENST00000313555	T	0.00034	8.87	5.46	1.03	0.20045	GPCR, rhodopsin-like superfamily (1);	0.193479	0.25277	U	0.031826	T	0.00073	0.0002	L	0.37561	1.115	0.09310	N	1	B	0.30146	0.27	B	0.28916	0.096	T	0.11966	-1.0566	10	0.13470	T	0.59	.	1.2671	0.02013	0.2787:0.1468:0.4237:0.1508	.	165	Q8N127	O5AS1_HUMAN	S	165	ENSP00000324111:R165S	ENSP00000324111:R165S	R	+	3	2	OR5AS1	55554965	0.000000	0.05858	0.085000	0.20634	0.819000	0.46315	-0.734000	0.04893	0.146000	0.19002	0.643000	0.83706	AGG	OR5AS1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181785		0.433	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	HGNC	protein_coding	OTTHUMT00000391538.1		0	16	0	G	NM_001001921		55798389	1			no_errors	ENST00000313555	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.059	T	T	55798389	G	T	55798389	3	4	131	1	0	0	0	0	1	0	0	0	11185	1194	42	3	497	3	OR5AS1	11	55798389	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	11887030	55798389	79208127	111	33624											
OR8H2	390151	genome.wustl.edu	37	chr11	55872693	55872693	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggacctccagcttcacactCccatgtattttttccttact	7	16	4	14	0	1	0	1	0	0	0	4	1	4	1	4	1	2	2	4	1	2	6			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:55872693C>G	ENST00000313503.1	+	1	175	c.175C>G	c.(175-177)Ccc>Gcc	p.P59A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	59						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)					GCTTCACACTCCCATGTATTT	0.413										HNSCC(53;0.14)																																							0													255	234	241					11																	55872693		2201	4293	6494	SO:0001583	missense	0			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.175C>G	11.37:g.55872693C>G	ENSP00000323982:p.Pro59Ala		Q6IFC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P59A	ENST00000313503.1	37	c.175	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	c	12.06	1.826086	0.32237	.	.	ENSG00000181767	ENST00000313503	T	0.02015	4.5	3.44	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000070	T	0.08447	0.0210	H	0.94925	3.6	0.41050	D	0.985294	B	0.31859	0.343	B	0.36030	0.216	T	0.01356	-1.1376	10	0.87932	D	0	.	11.5515	0.50723	0.0:0.9076:0.0:0.0924	.	59	Q8N162	OR8H2_HUMAN	A	59	ENSP00000323982:P59A	ENSP00000323982:P59A	P	+	1	0	OR8H2	55629269	0.967000	0.33354	0.969000	0.41365	0.393000	0.30537	2.707000	0.47143	0.739000	0.32628	0.281000	0.19383	CCC	OR8H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181767		0.413	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	-	0	88	0	C	NM_001005200		55872693	1	tier1	-	no_errors	ENST00000313503	ensembl	human	known	74_37	missense	38.26	92	57	SNP	1.000	G	G	55872693	C	G	55872693	3	3	131	1	0	0	0	0	1	0	0	0	11277	855	30	5	177	5	OR8H2	11	55872693	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	74304	55872693	79133823	112	33625											
MS4A6A	64231	genome.wustl.edu	37	chr11	59939661	59939661	+	Silent	SNP	G	G	A	0	0	1	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	aatagttcttcatatccacaGtcatgagtcatttttgagga	12	15	7	7	0	4	2	3	2	1	0	5	3	5	3	1	1	0	1	1	1	3	6			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:59939661G>A	ENST00000530839.1	-	8	1209	c.717C>T	c.(715-717)gaC>gaT	p.D239D	MS4A6A_ENST00000426738.2_3'UTR|MS4A6A_ENST00000529054.1_Silent_p.D267D|MS4A6A_ENST00000323961.3_Silent_p.D239D|MS4A6A_ENST00000420732.2_3'UTR|MS4A6A_ENST00000528851.1_3'UTR	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	239						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATATCCACAGTCATGAGTCA	0.318																																																	0													135	133	134					11																	59939661		2201	4292	6493	SO:0001819	synonymous_variant	0			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.717C>T	11.37:g.59939661G>A			A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.D239	ENST00000530839.1	37	c.717	CCDS7981.1	11																																																																																			MS4A6A	-	NULL	ENSG00000110077		0.318	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6A	HGNC	protein_coding	OTTHUMT00000393848.1	-	0	43	0	G			59939661	-1	tier1	-	no_errors	ENST00000323961	ensembl	human	known	74_37	silent	42.00	29	21	SNP	0.000	A	A	59939661	G	A	59939661	2	1	131	1	0	0	0	0	0	0	0	1	9902	1020	36	3		3	MS4A6A	11	59939661	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	4066968	59939661	75066855	113	33626											
CTTN	2017	genome.wustl.edu	37	chr11	70281137	70281137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttctcttccccagcgggcGatgatgagatctcatttgac	7	13	10	11	2	2	3	1	3	2	1	5	5	3	3	2	1	1	1	2	1	0	3	rs369658947		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:70281137G>A	ENST00000301843.8	+	18	1728	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	CTTN_ENST00000376561.3_Missense_Mutation_p.D471N|CTTN_ENST00000346329.3_Missense_Mutation_p.D471N|CTTN_ENST00000538675.1_Missense_Mutation_p.D192N	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	508	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCCAGCGGGCGATGATGAGAT	0.552																																																	0								G	ASN/ASP,ASN/ASP,ASN/ASP	1,4399	2.1+/-5.4	0,1,2199	97	89	92		1411,1522,1411	4.9	0.8	11		92	0,8588		0,0,4294	no	missense,missense,missense	CTTN	NM_001184740.1,NM_005231.3,NM_138565.2	23,23,23	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	471/635,508/551,471/514	70281137	1,12987	2200	4294	6494	SO:0001583	missense	0			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1522G>A	11.37:g.70281137G>A	ENSP00000301843:p.Asp508Asn		Q8N707|Q96H99	Missense_Mutation	SNP	pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.D508N	ENST00000301843.8	37	c.1522	CCDS41680.1	11	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485712	0.63962	2.27E-4	0.0	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000538675;ENST00000529736	T;T;T;T;T	0.53423	0.62;0.62;0.66;0.66;0.66	5.82	4.9	0.64082	Src homology-3 domain (4);	0.276343	0.40469	N	0.001087	T	0.69124	0.3076	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.969;0.998	D;D;P;D	0.97110	1.0;0.999;0.745;0.955	T	0.73395	-0.3996	10	0.62326	D	0.03	-39.6655	16.2651	0.82574	0.0:0.0:0.8662:0.1338	.	192;471;508;471	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	N	471;508;471;192;165	ENSP00000317189:D471N;ENSP00000301843:D508N;ENSP00000365745:D471N;ENSP00000439762:D192N;ENSP00000431421:D165N	ENSP00000301843:D508N	D	+	1	0	CTTN	69958785	1.000000	0.71417	0.815000	0.32552	0.014000	0.08584	9.579000	0.98204	1.434000	0.47414	-0.181000	0.13052	GAT	CTTN	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox	ENSG00000085733		0.552	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTN	HGNC	protein_coding	OTTHUMT00000259233.2	-	0	48	0	G	NM_138565		70281137	1	tier1	-	no_errors	ENST00000301843	ensembl	human	known	74_37	missense	10.98	469	58	SNP	1.000	A	A	70281137	G	A	70281137	3	1	131	1	0	0	0	0	1	0	0	0	4053	1058	37	1	1584	1	CTTN	11	70281137	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	10341476	70281137	64725379	114	33627											
SYTL2	54843	genome.wustl.edu	37	chr11	85445485	85445485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgacacaattttgcttttgGgttcaaagttgtgattataa	11	17	9	4	0	1	2	1	2	0	0	1	2	1	2	0	1	1	3	0	1	4	8			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:85445485G>T	ENST00000528231.1	-	6	1161	c.884C>A	c.(883-885)cCc>cAc	p.P295H	SYTL2_ENST00000524452.1_Missense_Mutation_p.P295H|SYTL2_ENST00000527523.1_Missense_Mutation_p.P247H|SYTL2_ENST00000316356.4_Missense_Mutation_p.P296H|SYTL2_ENST00000389960.4_Missense_Mutation_p.P295H	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	295					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)		TTTGCTTTTGGGTTCAAAGTT	0.483																																																	0													172	174	173					11																	85445485		2203	4299	6502	SO:0001583	missense	0			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.884C>A	11.37:g.85445485G>T	ENSP00000431701:p.Pro295His		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.P296H	ENST00000528231.1	37	c.887	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296586	0.60086	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.28069	1.72;1.75;1.73;1.63;1.72	6.06	5.13	0.70059	.	.	.	.	.	T	0.45094	0.1325	L	0.57536	1.79	0.52501	D	0.999958	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;P;D;D	0.65573	0.936;0.936;0.907;0.936;0.936	T	0.39623	-0.9605	8	.	.	.	.	7.1802	0.25768	0.1356:0.0:0.7185:0.1459	.	247;295;295;296;153	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	H	295;296;295;247;295	ENSP00000374610:P295H;ENSP00000318803:P296H;ENSP00000431701:P295H;ENSP00000434010:P247H;ENSP00000435238:P295H	.	P	-	2	0	SYTL2	85123133	0.877000	0.30153	0.965000	0.40720	0.971000	0.66376	1.305000	0.33493	1.509000	0.48786	0.650000	0.86243	CCC	SYTL2	-	NULL	ENSG00000137501		0.483	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	-	0	38	0	G	NM_206927		85445485	-1	tier1	-	no_errors	ENST00000316356	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.747	T	T	85445485	G	T	85445485	3	4	131	1	0	0	0	0	1	0	0	0	15530	1232	43	3	4453	3	SYTL2	11	85445485	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	15164348	85445485	49561031	115	33628											
SIK2	23235	genome.wustl.edu	37	chr11	111558830	111558830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcggaagattgtgcaccGtgacctcaaagctgaaaatc	12	9	11	9	2	1	3	1	2	0	1	3	4	1	4	2	2	2	2	2	2	4	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:111558830G>T	ENST00000304987.3	+	4	595	c.422G>T	c.(421-423)cGt>cTt	p.R141L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ATTGTGCACCGTGACCTCAAA	0.443																																																	0													116	106	109					11																	111558830		2201	4297	6498	SO:0001583	missense	0			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.422G>T	11.37:g.111558830G>T	ENSP00000305976:p.Arg141Leu		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R141L	ENST00000304987.3	37	c.422	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.608426	0.96626	.	.	ENSG00000170145	ENST00000304987	T	0.47528	0.84	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80661	-0.1283	10	0.87932	D	0	.	19.6085	0.95589	0.0:0.0:1.0:0.0	.	141	Q9H0K1	SIK2_HUMAN	L	141	ENSP00000305976:R141L	ENSP00000305976:R141L	R	+	2	0	SIK2	111064040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.380000	0.97202	2.729000	0.93468	0.655000	0.94253	CGT	SIK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000170145		0.443	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3		0	42	0	G	NM_015191		111558830	1			no_errors	ENST00000304987	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	111558830	G	T	111558830	3	4	131	1	0	0	0	0	1	0	0	0	14363	1145	40	2	436	2	SIK2	11	111558830	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	26113345	111558830	23447686	116	33629											
CEP164	22897	genome.wustl.edu	37	chr11	117244544	117244544	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccaagtccttccatggCctggtgagtttgagatgagg	8	10	13	10	0	0	3	0	3	0	1	2	5	2	3	5	3	0	1	5	3	1	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:117244544C>A	ENST00000278935.3	+	10	1377	c.1230C>A	c.(1228-1230)ggC>ggA	p.G410G	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	410					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)		CCTTCCATGGCCTGGTGAGTT	0.488																																																	0													128	104	112					11																	117244544		2201	4296	6497	SO:0001819	synonymous_variant	0			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.1230C>A	11.37:g.117244544C>A			Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.G410	ENST00000278935.3	37	c.1230	CCDS31683.1	11																																																																																			CEP164	-	NULL	ENSG00000110274		0.488	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	-	0	76	0	C	NM_014956		117244544	1	tier1	-	no_errors	ENST00000278935	ensembl	human	known	74_37	silent	44.07	33	26	SNP	0.999	A	A	117244544	C	A	117244544	2	1	131	1	0	0	0	0	0	0	0	1	3256	726	26	3		3	CEP164	11	117244544	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	5685714	117244544	17761972	117	33630											
PVRL1	5818	genome.wustl.edu	37	chr11	119549353	119549353	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	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	ggagccattggtggacttctGccatgtgacctgggtgatct	6	12	14	9	0	2	2	0	2	2	0	2	4	2	4	3	4	2	0	3	4	0	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:119549353G>A	ENST00000264025.3	-	2	732	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	PVRL1_ENST00000340882.2_Nonsense_Mutation_p.Q68*|PVRL1_ENST00000341398.2_Nonsense_Mutation_p.Q68*|PVRL1_ENST00000524510.1_5'UTR	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	68	Ig-like V-type.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTGGACTTCTGCCATGTGACC	0.587																																																	0													90	74	79					11																	119549353		2199	4295	6494	SO:0001587	stop_gained	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.202C>T	11.37:g.119549353G>A	ENSP00000264025:p.Gln68*		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Nonsense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.Q68*	ENST00000264025.3	37	c.202	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.217083	0.95104	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.481	0.90811	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	.	Q	-	1	0	PVRL1	119054563	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.471000	0.97696	2.617000	0.88574	0.462000	0.41574	CAG	PVRL1	-	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000110400		0.587	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	-	0	30	0	G			119549353	-1	tier1	-	no_errors	ENST00000264025	ensembl	human	known	74_37	nonsense	78.26	5	18	SNP	1.000	A	A	119549353	G	A	119549353	4	1	131	1	0	0	0	0	0	1	0	0	12884	1328	46	3	1817	3	PVRL1	11	119549353	Nonsense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	2304809	119549353	15457163	118	33631											
GRIK4	2900	genome.wustl.edu	37	chr11	120831696	120831696	+	Silent	SNP	G	G	T	0	0	1	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	accgtgcagcgcatggatgtGcccattgagtcagtggatga	9	9	14	9	2	1	2	1	2	0	0	1	4	1	4	2	2	3	2	2	2	0	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:120831696G>T	ENST00000527524.2	+	17	2240	c.1953G>T	c.(1951-1953)gtG>gtT	p.V651V	GRIK4_ENST00000438375.2_Silent_p.V651V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	651					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCATGGATGTGCCCATTGAGT	0.527																																																	0													140	111	121					11																	120831696		2203	4299	6502	SO:0001819	synonymous_variant	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1953G>T	11.37:g.120831696G>T			A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V651	ENST00000527524.2	37	c.1953	CCDS8433.1	11																																																																																			GRIK4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000149403		0.527	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	-	0	52	0	G	NM_014619		120831696	1	tier1	-	no_errors	ENST00000527524	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T	T	120831696	G	T	120831696	2	4	131	1	0	0	0	0	0	0	0	1	6803	1306	46	3		3	GRIK4	11	120831696	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	1282343	120831696	14174820	119	33632											
KCNJ5	3762	genome.wustl.edu	37	chr11	128786561	128786561	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctggatgcagaggctGagcagaatgaagaagatgag	14	5	17	5	0	0	7	0	3	0	4	0	8	0	8	0	3	2	4	0	3	3	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:128786561G>T	ENST00000338350.4	+	4	1547	c.1195G>T	c.(1195-1197)Gag>Tag	p.E399*	KCNJ5_ENST00000529694.1_Nonsense_Mutation_p.E399*|KCNJ5_ENST00000533599.1_Nonsense_Mutation_p.E399*			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	399					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)	TGCAGAGGCTGAGCAGAATGA	0.657																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												0													19	22	21					11																	128786561		2199	4295	6494	SO:0001587	stop_gained	0			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.1195G>T	11.37:g.128786561G>T	ENSP00000339960:p.Glu399*		B2R744|Q6DK13|Q6DK14|Q92807	Nonsense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	p.E399*	ENST00000338350.4	37	c.1195	CCDS8479.1	11	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068455	0.55539	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	.	.	.	3.99	3.99	0.46301	.	0.872703	0.09667	N	0.771725	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	15.0541	0.71897	0.0:0.0:1.0:0.0	.	.	.	.	X	399	.	ENSP00000339960:E399X	E	+	1	0	KCNJ5	128291771	0.971000	0.33674	0.980000	0.43619	0.099000	0.18886	2.125000	0.42016	2.079000	0.62486	0.466000	0.42574	GAG	KCNJ5	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	ENSG00000120457		0.657	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	HGNC	protein_coding	OTTHUMT00000386239.1	-	0	52	0	G	NM_000890		128786561	1	tier1	-	no_errors	ENST00000529694	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.998	T	T	128786561	G	T	128786561	4	4	131	1	0	0	0	0	0	1	0	0	8081	1291	45	3	1201	3	KCNJ5	11	128786561	Nonsense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	7954865	128786561	6219955	120	33633											
ING4	51147	genome.wustl.edu	37	chr12	6772257	6772257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gataatgttccaaatacatcCccgcagccatctcgaagcaa	14	8	6	13	2	1	0	0	0	1	0	4	2	3	0	4	0	3	3	4	0	5	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:6772257C>T	ENST00000396807.4	-	1	49	c.11G>A	c.(10-12)gGg>gAg	p.G4E	ING4_ENST00000423703.2_Missense_Mutation_p.G4E|ING4_ENST00000444704.2_Missense_Mutation_p.G4E|ING4_ENST00000412586.2_Missense_Mutation_p.G4E|ING4_ENST00000341550.4_Missense_Mutation_p.G4E|ING4_ENST00000446105.2_Missense_Mutation_p.G4E|RP4-761J14.8_ENST00000589924.1_RNA	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	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						CAAATACATCCCCGCAGCCAT	0.572																																																	0													107	85	93					12																	6772257		2203	4300	6503	SO:0001583	missense	0			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.11G>A	12.37:g.6772257C>T	ENSP00000380024:p.Gly4Glu		A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G4E	ENST00000396807.4	37	c.11	CCDS44813.1	12	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724372	0.89298	.	.	ENSG00000111653	ENST00000341550;ENST00000396807;ENST00000446105;ENST00000444704;ENST00000423703;ENST00000412586	.	.	.	5.0	5.0	0.66597	.	0.062472	0.64402	D	0.000005	T	0.74275	0.3695	L	0.42744	1.35	0.80722	D	1	D;D;D;P;P;D	0.89917	0.985;0.984;1.0;0.696;0.615;1.0	P;P;D;P;B;D	0.91635	0.888;0.811;0.999;0.535;0.412;0.998	T	0.76691	-0.2866	9	0.87932	D	0	-8.4839	18.4828	0.90818	0.0:1.0:0.0:0.0	.	4;4;4;4;4;4	Q9UNL4-3;A4KYM6;Q9UNL4-4;Q9UNL4-5;Q9UNL4;Q4VBQ6	.;.;.;.;ING4_HUMAN;.	E	4	.	ENSP00000343396:G4E	G	-	2	0	ING4	6642518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.038000	0.57318	2.617000	0.88574	0.655000	0.94253	GGG	ING4	-	NULL	ENSG00000111653		0.572	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ING4	HGNC	protein_coding	OTTHUMT00000280467.2	-	0	52	0	C	NM_198287		6772257	-1	tier1	-	no_errors	ENST00000396807	ensembl	human	known	74_37	missense	31.75	43	20	SNP	1.000	T	T	6772257	C	T	6772257	3	4	131	1	0	0	0	0	1	0	0	0	7765	623	22	3	770	3	ING4	12	6772257	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09		6772257	127079638	121	33634											
CLSTN3	9746	genome.wustl.edu	37	chr12	7310144	7310144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcttcctggtgctcatgGtcgtcctgggcctggtgcgc	1	12	16	12	2	1	0	1	0	0	0	4	0	3	0	3	5	2	2	3	5	0	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:7310144G>A	ENST00000266546.6	+	17	3037	c.2587G>A	c.(2587-2589)Gtc>Atc	p.V863I	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000537408.1_Missense_Mutation_p.V875I	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	863					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						GGTGCTCATGGTCGTCCTGGG	0.662																																																	0													78	65	69					12																	7310144		2203	4300	6503	SO:0001583	missense	0			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.2587G>A	12.37:g.7310144G>A	ENSP00000266546:p.Val863Ile		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V863I	ENST00000266546.6	37	c.2587	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369789	0.24771	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.55760	0.5;0.5	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000002	T	0.57858	0.2082	L	0.27053	0.805	0.58432	D	0.999994	D;D;B	0.58970	0.959;0.984;0.172	D;D;B	0.68192	0.949;0.956;0.145	T	0.48352	-0.9043	10	0.12430	T	0.62	-44.2074	18.2262	0.89917	0.0:0.0:1.0:0.0	.	205;875;863	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	I	863;875	ENSP00000266546:V863I;ENSP00000440679:V875I	ENSP00000266546:V863I	V	+	1	0	CLSTN3	7201411	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	5.618000	0.67722	2.619000	0.88677	0.462000	0.41574	GTC	CLSTN3	-	NULL	ENSG00000139182		0.662	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2		0	28	0	G	NM_014718		7310144	1			no_errors	ENST00000266546	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	7310144	G	A	7310144	3	1	131	1	0	0	0	0	1	0	0	0	3570	1261	44	3	2653	3	CLSTN3	12	7310144	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	537887	7310144	126541751	122	33635											
PTPRO	5800	genome.wustl.edu	37	chr12	15654736	15654736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggcaacatttcttccGgttggcctgattttaatagc	7	14	9	11	2	1	1	0	1	1	0	3	1	2	1	3	3	2	2	3	3	3	6	rs559417288		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:15654736G>A	ENST00000281171.4	+	5	1174	c.844G>A	c.(844-846)Ggt>Agt	p.G282S	PTPRO_ENST00000543886.1_Missense_Mutation_p.G282S|PTPRO_ENST00000348962.2_Missense_Mutation_p.G282S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	282	Fibronectin type-III 3. {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)				CATTTCTTCCGGTTGGCCTGA	0.413													G|||	1	0.000199681	0	0	5008	,	,		18663	0		0	False		,,,				2504	0.001																0													66	64	65					12																	15654736		2203	4300	6503	SO:0001583	missense	0			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.844G>A	12.37:g.15654736G>A	ENSP00000281171:p.Gly282Ser		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G282S	ENST00000281171.4	37	c.844	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247921	0.39697	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.03772	3.81;3.82	4.49	3.57	0.40892	.	0.164332	0.28442	N	0.015331	T	0.02807	0.0084	N	0.14661	0.345	0.80722	D	1	B;B;P	0.34587	0.335;0.226;0.458	B;B;B	0.25614	0.062;0.017;0.041	T	0.55412	-0.8145	10	0.56958	D	0.05	.	8.9161	0.35583	0.082:0.1518:0.7662:0.0	.	282;282;282	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	S	282	ENSP00000281171:G282S;ENSP00000343434:G282S	ENSP00000281171:G282S	G	+	1	0	PTPRO	15546003	0.987000	0.35691	0.990000	0.47175	0.698000	0.40448	2.441000	0.44864	1.057000	0.40506	0.650000	0.86243	GGT	PTPRO	-	NULL	ENSG00000151490		0.413	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	-	0	93	0	G			15654736	1	tier1	-	no_errors	ENST00000281171	ensembl	human	known	74_37	missense	38.18	102	63	SNP	0.981	A	A	15654736	G	A	15654736	3	1	131	1	0	0	0	0	1	0	0	0	12854	1116	39	1	862	1	PTPRO	12	15654736	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	8344592	15654736	118197159	123	33636											
TMEM117	84216	genome.wustl.edu	37	chr12	44605125	44605125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgactggggaaaatcagCaagagctttctggaagaaag	14	8	12	7	0	2	3	1	1	1	2	3	5	3	5	1	3	2	2	1	3	5	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:44605125C>T	ENST00000266534.3	+	5	690	c.563C>T	c.(562-564)gCa>gTa	p.A188V	TMEM117_ENST00000536799.1_Missense_Mutation_p.A84V|TMEM117_ENST00000551577.1_Missense_Mutation_p.A188V	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	188						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)		GGAAAATCAGCAAGAGCTTTC	0.378																																																	0													111	111	111					12																	44605125		2203	4300	6503	SO:0001583	missense	0			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.563C>T	12.37:g.44605125C>T	ENSP00000266534:p.Ala188Val			Missense_Mutation	SNP	NULL	p.A188V	ENST00000266534.3	37	c.563	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583377	0.28268	.	.	ENSG00000139173	ENST00000551577;ENST00000266534;ENST00000536799	T;T;T	0.39997	1.05;1.05;1.05	5.92	5.92	0.95590	.	0.099149	0.64402	D	0.000002	T	0.51415	0.1673	L	0.34521	1.04	0.53688	D	0.999977	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.971;0.99;0.986	T	0.28106	-1.0054	10	0.02654	T	1	-18.3143	20.3206	0.98668	0.0:1.0:0.0:0.0	.	188;84;188	F8VS00;F5H3Q2;Q9H0C3	.;.;TM117_HUMAN	V	188;188;84	ENSP00000448595:A188V;ENSP00000266534:A188V;ENSP00000445243:A84V	ENSP00000266534:A188V	A	+	2	0	TMEM117	42891392	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	6.697000	0.74603	2.809000	0.96659	0.655000	0.94253	GCA	TMEM117	-	NULL	ENSG00000139173		0.378	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	-	0	58	0	C	NM_032256		44605125	1	tier1	-	no_errors	ENST00000266534	ensembl	human	known	74_37	missense	36.11	46	26	SNP	1.000	T	T	44605125	C	T	44605125	3	4	131	1	0	0	0	0	1	0	0	0	16078	710	25	3	577	3	TMEM117	12	44605125	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	28950389	44605125	89246770	124	33637											
MLL2	8085	genome.wustl.edu	37	chr12	49428677	49428678	+	Frame_Shift_Ins	INS	-	-	A																															gccaccatcttggcctttgcINSaatgggatcaatgatatctt																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:49428677_49428678insA	ENST00000301067.7	-	35	10271_10272	c.10272_10273insT	c.(10270-10275)attgcafs	p.A3425fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3425	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)										TTGGCCTTTGCAATGGGATCAA	0.515																																																	0																																										SO:0001589	frameshift_variant	0			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.10273dupT	12.37:g.49428679_49428679dupA	ENSP00000301067:p.Ala3425fs		O14687	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A3424fs	ENST00000301067.7	37	c.10273_10272	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.515	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0	40	0	-			49428678	-1	tier1		no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_ins	28.57	35	14	INS	1.000:1.000	A	A	49428678	-	A	49428677	7	5	131	1	0	1	1	0	0	0	0	0	9659	710	25	0	6420	0	MLL2	12	49428677	Frame_Shift_Ins	INS	-	TCGA-LN-A8I1-01A-11D-A36J-09	4823552	49428677	84423218	125	33638											
FAIM2	23017	genome.wustl.edu	37	chr12	50282986	50282986	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggaggtgaagtcgaaCtgtggggacaggatggggtt	9	8	20	4	1	0	1	0	1	0	0	1	5	0	4	0	8	1	2	0	8	2	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:50282986C>G	ENST00000320634.3	-	10	746		c.e10-1		FAIM2_ENST00000550890.1_Splice_Site	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2						apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TGAAGTCGAACTGTGGGGACA	0.577																																																	0													79	67	71					12																	50282986		2203	4300	6503	SO:0001630	splice_region_variant	0			AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 2"	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.652-1G>C	12.37:g.50282986C>G			A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Splice_Site	SNP	-	e10-1	ENST00000320634.3	37	c.652-1	CCDS8791.1	12	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024856	0.54683	.	.	ENSG00000135472	ENST00000320634;ENST00000550890;ENST00000550635;ENST00000552669;ENST00000552863	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9581	0.58442	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAIM2	48569253	1.000000	0.71417	0.997000	0.53966	0.643000	0.38383	6.236000	0.72339	2.126000	0.65437	0.462000	0.41574	.	FAIM2	-	-	ENSG00000135472		0.577	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM2	HGNC	protein_coding	OTTHUMT00000405984.1		0	26	0	C	NM_012306	Intron	50282986	-1			no_errors	ENST00000320634	ensembl	human	known	74_37	splice_site	11.54	23	3	SNP	1.000	G	G	50282986	C	G	50282986	5	3	131	1	0	0	0	0	0	0	1	0	5395	579	20	5	311	5	FAIM2	12	50282986	Splice_Site	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	854309	50282986	83568909	126	33639											
KIF5A	3798	genome.wustl.edu	37	chr12	57972061	57972061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacagtggggggattcactCccaaaagcagaagatttcct	13	8	11	9	0	1	3	1	0	0	3	3	4	3	4	2	3	1	1	2	3	3	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:57972061C>A	ENST00000455537.2	+	23	2748	c.2474C>A	c.(2473-2475)tCc>tAc	p.S825Y	KIF5A_ENST00000286452.5_Missense_Mutation_p.S736Y	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	825					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						GGGATTCACTCCCAAAAGCAG	0.473																																																	0													96	94	95					12																	57972061		2203	4300	6503	SO:0001583	missense	0			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.2474C>A	12.37:g.57972061C>A	ENSP00000408979:p.Ser825Tyr		A6H8M5|Q4LE26	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S825Y	ENST00000455537.2	37	c.2474	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073754	0.76415	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.76968	-1.06;-1.06	5.15	5.15	0.70609	.	0.063549	0.64402	D	0.000005	T	0.72293	0.3442	N	0.22421	0.69	0.41235	D	0.986603	P;P	0.47106	0.89;0.89	P;P	0.45753	0.492;0.492	T	0.77330	-0.2628	10	0.87932	D	0	.	18.0099	0.89220	0.0:1.0:0.0:0.0	.	736;825	B7Z2M7;Q12840	.;KIF5A_HUMAN	Y	825;736	ENSP00000408979:S825Y;ENSP00000286452:S736Y	ENSP00000286452:S736Y	S	+	2	0	KIF5A	56258328	0.960000	0.32886	1.000000	0.80357	0.998000	0.95712	5.896000	0.69822	2.869000	0.98440	0.558000	0.71614	TCC	KIF5A	-	superfamily_Prefoldin	ENSG00000155980		0.473	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1	-	0	69	0	C	NM_004984		57972061	1	tier1	-	no_errors	ENST00000455537	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	57972061	C	A	57972061	3	1	131	1	0	0	0	0	1	0	0	0	8332	855	30	3	2564	3	KIF5A	12	57972061	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	7689075	57972061	75879834	127	33640											
TSFM	25895	genome.wustl.edu	37	chr12	58176601	58176601	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagatgtcgctgctgcggtCgctgcgcgtgtttctggtcg	3	12	16	10	6	1	1	0	0	1	1	4	2	1	1	0	2	3	4	0	2	0	1	rs372337739		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:58176601C>T	ENST00000300209.8	+	0	2563				TSFM_ENST00000548851.1_Missense_Mutation_p.S6L|TSFM_ENST00000543727.1_Missense_Mutation_p.S6L|TSFM_ENST00000323833.8_Missense_Mutation_p.S6L|TSFM_ENST00000550559.1_Missense_Mutation_p.S6L|RP11-571M6.15_ENST00000553083.1_Intron|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000454289.3_Missense_Mutation_p.S6L|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000540550.1_Missense_Mutation_p.S6L	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CTGCTGCGGTCGCTGCGCGTG	0.652											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4404		0,0,2202	35	32	33		17,17,17,17	5	0.1	12		33	1,8575		0,1,4287	no	missense,missense,missense,missense	TSFM	NM_001172695.1,NM_001172696.1,NM_001172697.1,NM_005726.5	145,145,145,145	0,1,6489	TT,TC,CC		0.0117,0.0,0.0077	benign,benign,benign,benign	6/168,6/347,6/216,6/326	58176601	1,12979	2202	4288	6490	SO:0001628	intergenic_variant	0			AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58176601C>T		1028	Q9H749|Q9Y3W2	Missense_Mutation	SNP	pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/Ts_N,superfamily_Transl_elong_EFTs/EF1B_dimer,superfamily_UBA-like	p.S6L	ENST00000300209.8	37	c.17	CCDS8957.1	12	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166078	0.38217	0.0	1.17E-4	ENSG00000123297	ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000550559;ENST00000548851	.	.	.	4.99	4.99	0.66335	.	0.803958	0.11438	N	0.564111	T	0.40094	0.1103	L	0.29908	0.895	0.80722	D	1	P;B;P	0.40083	0.702;0.382;0.593	B;B;B	0.32149	0.141;0.037;0.063	T	0.39781	-0.9597	9	0.52906	T	0.07	.	13.6139	0.62097	0.0:1.0:0.0:0.0	.	6;6;6	B4E391;P43897;P43897-2	.;EFTS_HUMAN;.	L	6	.	ENSP00000313877:S6L	S	+	2	0	TSFM	56462868	0.043000	0.20138	0.073000	0.20177	0.014000	0.08584	1.897000	0.39799	2.589000	0.87451	0.462000	0.41574	TCG	TSFM	-	NULL	ENSG00000123297		0.652	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSFM	HGNC	protein_coding	OTTHUMT00000409268.1	-	0	49	0	C	NM_015433		58176601	1	tier1	-	no_errors	ENST00000323833	ensembl	human	known	74_37	missense	48.08	54	50	SNP	0.175	T	T	58176601	C	T	58176601	1	4	131	0	1	0	0	0	0	0	0	0	16663	893	31	1		1	TSFM	12	58176601	IGR	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	204540	58176601	75675294	128	33641											
SLC35E3	55508	genome.wustl.edu	37	chr12	69145879	69145879	+	Missense_Mutation	SNP	T	T	C	0	1	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	gctgtactaccaggctccgaTgtcatctgccatgttgctgg	6	12	11	12	1	2	0	1	0	1	0	3	1	3	0	3	2	4	5	3	2	2	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:69145879T>C	ENST00000398004.2	+	3	853	c.581T>C	c.(580-582)aTg>aCg	p.M194T		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	194						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)			CAGGCTCCGATGTCATCTGCC	0.463																																																	0													235	225	228					12																	69145879		2017	4183	6200	SO:0001583	missense	0			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.581T>C	12.37:g.69145879T>C	ENSP00000381089:p.Met194Thr		A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	pfam_Tpt_PEP_trans_dom,pfam_DMT	p.M194T	ENST00000398004.2	37	c.581	CCDS41808.1	12	.	.	.	.	.	.	.	.	.	.	T	17.07	3.296189	0.60086	.	.	ENSG00000175782	ENST00000398004;ENST00000431174	T;T	0.63744	-0.06;1.29	5.59	5.59	0.84812	Domain of unknown function DUF250 (1);	0.041255	0.85682	D	0.000000	T	0.53706	0.1813	L	0.37630	1.12	0.58432	D	0.999999	B	0.15930	0.015	B	0.23150	0.044	T	0.48068	-0.9067	9	.	.	.	-0.3555	16.0729	0.80948	0.0:0.0:0.0:1.0	.	194	Q7Z769	S35E3_HUMAN	T	194;4	ENSP00000381089:M194T;ENSP00000403769:M4T	.	M	+	2	0	SLC35E3	67432146	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	7.698000	0.84413	2.266000	0.75297	0.454000	0.30748	ATG	SLC35E3	-	pfam_Tpt_PEP_trans_dom,pfam_DMT	ENSG00000175782		0.463	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E3	HGNC	protein_coding	OTTHUMT00000403241.1	-	0	74	0	T	NM_018656		69145879	1	tier1	-	no_errors	ENST00000398004	ensembl	human	known	74_37	missense	43.18	100	76	SNP	1.000	C	C	69145879	T	C	69145879	3	2	131	1	0	0	0	0	1	0	0	0	14631	1464	51	4	591	4	SLC35E3	12	69145879	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	10969278	69145879	64706016	129	33642											
ACSS3	79611	genome.wustl.edu	37	chr12	81537017	81537017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacacatctggcacaacgggGttacctaaggtactcactct	11	10	8	12	1	3	0	1	0	2	0	3	0	3	0	1	4	4	3	1	4	5	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:81537017G>A	ENST00000548058.1	+	5	1822	c.912G>A	c.(910-912)ggG>ggA	p.G304G	ACSS3_ENST00000261206.3_Silent_p.G303G			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	304						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						GCACAACGGGGTTACCTAAGG	0.408																																																	0													111	104	106					12																	81537017		2203	4300	6503	SO:0001819	synonymous_variant	0				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.912G>A	12.37:g.81537017G>A			Q8NC66	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.G304	ENST00000548058.1	37	c.912	CCDS9022.1	12																																																																																			ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.408	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0	44	0	G	NM_024560		81537017	1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	silent	48.57	36	34	SNP	0.001	A	A	81537017	G	A	81537017	2	1	131	1	0	0	0	0	0	0	0	1	190	1248	44	3		3	ACSS3	12	81537017	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	12391138	81537017	52314878	130	33643											
CEP290	80184	genome.wustl.edu	37	chr12	88508214	88508214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacattaactagtctttcaaGgctagggataattagagatg	14	13	9	5	0	2	1	1	0	1	1	2	3	2	2	0	2	2	1	0	2	7	7			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:88508214G>T	ENST00000552810.1	-	20	2378	c.2035C>A	c.(2035-2037)Ctt>Att	p.L679I	CEP290_ENST00000309041.7_Missense_Mutation_p.L681I|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	679					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						AGTCTTTCAAGGCTAGGGATA	0.338																																																	0													156	138	144					12																	88508214		1602	3564	5166	SO:0001583	missense	0			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.2035C>A	12.37:g.88508214G>T	ENSP00000448012:p.Leu679Ile		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.L681I	ENST00000552810.1	37	c.2041	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995407	0.74703	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998	T;T	0.79352	-1.26;-1.26	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	D	0.84750	0.5541	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.78314	0.945;0.991	T	0.82500	-0.0426	10	0.34782	T	0.22	.	11.8573	0.52446	0.1342:0.0:0.8658:0.0	.	679;679	Q05BJ6;O15078	.;CE290_HUMAN	I	679;681;679	ENSP00000448012:L679I;ENSP00000308021:L681I	ENSP00000308021:L681I	L	-	1	0	CEP290	87032345	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.264000	0.58859	2.880000	0.98712	0.650000	0.86243	CTT	CEP290	-	NULL	ENSG00000198707		0.338	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	-	0	76	0	G	NM_025114		88508214	-1	tier1	-	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	88508214	G	T	88508214	3	4	131	1	0	0	0	0	1	0	0	0	3260	1000	35	3	5544	3	CEP290	12	88508214	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	6971197	88508214	45343681	131	33644											
CEP290	80184	genome.wustl.edu	37	chr12	88522769	88522769	+	Missense_Mutation	SNP	T	T	C	0	1	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	cagctaccataattggatcaTcttcttcattttttgatttc	9	19	4	9	0	4	1	2	1	2	0	5	2	4	2	1	1	2	1	1	1	2	9			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:88522769T>C	ENST00000552810.1	-	11	1239	c.896A>G	c.(895-897)gAt>gGt	p.D299G	CEP290_ENST00000309041.7_Missense_Mutation_p.D299G|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	299					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						AATTGGATCATCTTCTTCATT	0.284																																																	0													73	66	68					12																	88522769		1817	4067	5884	SO:0001583	missense	0			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.896A>G	12.37:g.88522769T>C	ENSP00000448012:p.Asp299Gly		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.D299G	ENST00000552810.1	37	c.896	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049036	0.55110	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.59083	0.29;0.29	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.73380	0.98;0.943	T	0.65278	-0.6207	10	0.18276	T	0.48	.	11.8163	0.52214	0.0:0.0:0.1462:0.8538	.	299;299	Q05BJ6;O15078	.;CE290_HUMAN	G	299;299;299;201	ENSP00000448012:D299G;ENSP00000308021:D299G	ENSP00000308021:D299G	D	-	2	0	CEP290	87046900	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.715000	0.54897	1.912000	0.55364	0.397000	0.26171	GAT	CEP290	-	NULL	ENSG00000198707		0.284	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	-	0	173	0	T	NM_025114		88522769	-1	tier1	-	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	38.29	136	85	SNP	1.000	C	C	88522769	T	C	88522769	3	2	131	1	0	0	0	0	1	0	0	0	3260	1435	50	4	6719	4	CEP290	12	88522769	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	14555	88522769	45329126	132	33645											
STAB2	55576	genome.wustl.edu	37	chr12	104136291	104136291	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cggcttcaatgggacggcgtGtgagatgtgctggccgggga	6	8	19	8	4	1	1	1	1	0	1	1	4	1	3	1	6	1	2	1	6	1	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:104136291G>T	ENST00000388887.2	+	56	6194	c.5990G>T	c.(5989-5991)tGt>tTt	p.C1997F		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						GGGACGGCGTGTGAGATGTGC	0.577																																																	0													188	170	176					12																	104136291		2203	4300	6503	SO:0001583	missense	0			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.5990G>T	12.37:g.104136291G>T	ENSP00000373539:p.Cys1997Phe			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.C1997F	ENST00000388887.2	37	c.5990	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374829	0.82573	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.88586	-2.4	5.05	5.05	0.67936	EGF-like, laminin (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97620	0.9220	H	0.99887	4.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99867	1.1091	10	0.72032	D	0.01	.	18.4222	0.90595	0.0:0.0:1.0:0.0	.	1997	Q8WWQ8	STAB2_HUMAN	F	1997;684	ENSP00000373539:C1997F	ENSP00000258495:C684F	C	+	2	0	STAB2	102660421	1.000000	0.71417	0.863000	0.33907	0.832000	0.47134	8.916000	0.92745	2.303000	0.77524	0.563000	0.77884	TGT	STAB2	-	smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000136011		0.577	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0	34	0	G			104136291	1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T	T	104136291	G	T	104136291	3	4	131	1	0	0	0	0	1	0	0	0	15285	1377	48	3	6212	3	STAB2	12	104136291	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	15613522	104136291	29715604	133	33646											
MVK	4598	genome.wustl.edu	37	chr12	110019329	110019329	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgaggagatcccaaacccGctgaaggacggggattgcgt	10	6	15	10	4	0	2	0	1	0	1	1	6	1	4	2	4	3	1	2	4	2	1	rs104895310		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:110019329G>T	ENST00000228510.3	+	5	577	c.501G>T	c.(499-501)ccG>ccT	p.P167P	MVK_ENST00000539575.1_Intron|MVK_ENST00000541384.1_Intron|MVK_ENST00000392727.3_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000535044.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	167			P -> L (in HIDS). {ECO:0000269|PubMed:10369262, ECO:0000269|PubMed:11313769}.		cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						TCCCAAACCCGCTGAAGGACG	0.662																																																	0													86	83	84					12																	110019329		2203	4300	6503	SO:0001819	synonymous_variant	0			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"LH receptor mRNA-binding protein", "mevalonic aciduria"	251170	"mevalonate kinase (mevalonic aciduria)"			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.501G>T	12.37:g.110019329G>T				Silent	SNP	pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin	p.P167	ENST00000228510.3	37	c.501	CCDS9132.1	12																																																																																			MVK	-	pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Mev_gal_kin	ENSG00000110921		0.662	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVK	HGNC	protein_coding	OTTHUMT00000403143.1	-	0	73	0	G	NM_000431		110019329	1	tier1	-	no_errors	ENST00000228510	ensembl	human	known	74_37	silent	42.42	38	28	SNP	0.018	T	T	110019329	G	T	110019329	2	4	131	1	0	0	0	0	0	0	0	1	10033	1074	38	2		2	MVK	12	110019329	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	5883038	110019329	23832566	134	33647											
C12orf51	283450	genome.wustl.edu	37	chr12	112688861	112688861	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacaggattcttaacatGgaacaagctaacacagacag	16	9	8	8	0	1	1	0	0	1	1	1	3	1	3	0	2	5	2	0	2	5	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:112688861G>T	ENST00000430131.2	-	23	3509	c.2364C>A	c.(2362-2364)tcC>tcA	p.S788S	HECTD4_ENST00000550722.1_Silent_p.S1064S|HECTD4_ENST00000377560.5_Silent_p.S1038S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	788					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)										TTCTTAACATGGAACAAGCTA	0.448																																																	0													124	110	115					12																	112688861		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2364C>A	12.37:g.112688861G>T			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.S1038	ENST00000430131.2	37	c.3114		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.448	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding			0	66	0	G	NM_173813		112688861	-1			no_errors	ENST00000377560	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T	T	112688861	G	T	112688861	2	4	131	1	0	0	0	0	0	0	0	1	1701	1335	47	3		3	C12orf51	12	112688861	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	2669532	112688861	21163034	135	33648											
ELF1	1997	genome.wustl.edu	37	chr13	41517266	41517266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtaaaaactcccaaaGataaattgtgtttcctgaaa	16	11	6	8	0	0	2	0	1	0	1	2	2	2	2	3	0	2	2	3	0	7	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr13:41517266G>T	ENST00000239882.3	-	7	942	c.628C>A	c.(628-630)Ctt>Att	p.L210I	ELF1_ENST00000442101.1_Missense_Mutation_p.L186I|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	210					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AACTCCCAAAGATAAATTGTG	0.358																																																	0													52	52	52					13																	41517266		2203	4300	6503	SO:0001583	missense	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.628C>A	13.37:g.41517266G>T	ENSP00000239882:p.Leu210Ile		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.L210I	ENST00000239882.3	37	c.628	CCDS9374.1	13	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539350	0.85917	.	.	ENSG00000120690	ENST00000442101;ENST00000239882	T;T	0.73152	-0.72;-0.72	5.66	5.66	0.87406	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.64402	D	0.000001	D	0.83885	0.5351	M	0.81341	2.54	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85604	0.1254	10	0.87932	D	0	.	13.0026	0.58685	0.0738:0.0:0.9262:0.0	.	186;210	E9PDQ9;P32519	.;ELF1_HUMAN	I	186;210	ENSP00000405580:L186I;ENSP00000239882:L210I	ENSP00000239882:L210I	L	-	1	0	ELF1	40415266	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.061000	0.89467	2.661000	0.90470	0.655000	0.94253	CTT	ELF1	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000120690		0.358	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	HGNC	protein_coding	OTTHUMT00000044654.3		0	86	0	G	NM_172373		41517266	-1			no_errors	ENST00000239882	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	41517266	G	T	41517266	3	4	131	1	0	0	0	0	1	0	0	0	5069	942	33	3	1243	3	ELF1	13	41517266	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		41517266	73652612	136	33649											
HAUS4	54930	genome.wustl.edu	37	chr14	23417087	23417087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgataaacctgggagtaaGcagcactcttcttctccagc	10	10	8	13	0	3	1	0	1	3	0	4	2	3	2	3	1	4	3	3	1	3	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:23417087G>A	ENST00000206474.7	-	7	950	c.698C>T	c.(697-699)gCt>gTt	p.A233V	HAUS4_ENST00000342454.8_Missense_Mutation_p.A188V|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000541587.1_Missense_Mutation_p.A233V|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000555367.1_Missense_Mutation_p.A188V|HAUS4_ENST00000490506.1_Missense_Mutation_p.A109V|RP11-298I3.5_ENST00000555074.1_Silent_p.C62C|HAUS4_ENST00000555986.1_Missense_Mutation_p.A188V|HAUS4_ENST00000397409.4_Intron|RP11-298I3.1_ENST00000548819.1_RNA			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	233					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						CTGGGAGTAAGCAGCACTCTT	0.542																																																	0													121	111	114					14																	23417087		2203	4300	6503	SO:0001583	missense	0			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.698C>T	14.37:g.23417087G>A	ENSP00000206474:p.Ala233Val		B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	NULL	p.A233V	ENST00000206474.7	37	c.698	CCDS9580.1	14	.	.	.	.	.	.	.	.	.	.	G	3.526	-0.096734	0.07010	.	.	ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000259132	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000555074	.	.	.	5.24	4.33	0.51752	.	0.363687	0.31290	N	0.007920	T	0.26846	0.0657	N	0.08118	0	0.80722	D	1	B;B	0.17268	0.008;0.021	B;B	0.21546	0.022;0.035	T	0.15838	-1.0423	9	0.02654	T	1	-1.7281	10.3007	0.43650	0.0948:0.0:0.9052:0.0	.	188;233	Q9H6D7-4;Q9H6D7	.;HAUS4_HUMAN	V	233;109;233;188;188;188;233;10	.	ENSP00000206474:A233V	A	-	2	0	RP11-298I3.5;HAUS4	22486927	1.000000	0.71417	0.998000	0.56505	0.119000	0.20118	1.458000	0.35223	2.456000	0.83038	0.585000	0.79938	GCT	HAUS4	-	NULL	ENSG00000092036		0.542	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS4	HGNC	protein_coding	OTTHUMT00000071680.3	-	0	28	0	G			23417087	-1	tier1	-	no_errors	ENST00000206474	ensembl	human	known	74_37	missense	38.46	32	20	SNP	0.999	A	A	23417087	G	A	23417087	3	1	131	1	0	0	0	0	1	0	0	0	6995	971	34	3	409	3	HAUS4	14	23417087	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		23417087	83932453	137	33650											
FANCM	57697	genome.wustl.edu	37	chr14	45667962	45667962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaagaaaccgcagatttGctaaaggaactgtctttagt	15	10	9	7	1	1	3	0	0	1	3	1	4	1	4	1	1	3	2	1	1	7	4	rs201017015		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:45667962G>C	ENST00000267430.5	+	22	5917	c.5832G>C	c.(5830-5832)ttG>ttC	p.L1944F	FANCM_ENST00000542564.2_Missense_Mutation_p.L1918F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1944	Interaction with FAAP24 and EME1.				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						CCGCAGATTTGCTAAAGGAAC	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													86	87	86					14																	45667962		2203	4300	6503	SO:0001583	missense	0	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.5832G>C	14.37:g.45667962G>C	ENSP00000267430:p.Leu1944Phe		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1944F	ENST00000267430.5	37	c.5832	CCDS32070.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.35|18.35	3.604875|3.604875	0.66445|0.66445	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250;ENST00000555484	.|T;T;T	.|0.21543	.|2.02;2.06;2.0	5.7|5.7	2.87|2.87	0.33458|0.33458	.|DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	.|0.153542	.|0.44902	.|D	.|0.000405	T|T	0.42494|0.42494	0.1205|0.1205	M|M	0.76328|0.76328	2.33|2.33	0.37695|0.37695	D|D	0.923983|0.923983	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.997	T|T	0.38457|0.38457	-0.9660|-0.9660	5|10	.|0.49607	.|T	.|0.09	.|.	9.729|9.729	0.40350|0.40350	0.2269:0.0:0.7731:0.0|0.2269:0.0:0.7731:0.0	.|.	.|1918;1944	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	P|F	912|1944;1918;1460;70	.|ENSP00000267430:L1944F;ENSP00000442493:L1918F;ENSP00000452033:L1460F	.|ENSP00000267430:L1944F	A|L	+|+	1|3	0|2	FANCM|FANCM	44737712|44737712	0.996000|0.996000	0.38824|0.38824	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	1.400000|1.400000	0.34577|0.34577	0.323000|0.323000	0.23307|0.23307	0.650000|0.650000	0.86243|0.86243	GCT|TTG	FANCM	-	superfamily_Restrct_endonuc-II-like	ENSG00000187790		0.393	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0	67	0	G	XM_048128		45667962	1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	24.29	52	17	SNP	1.000	C	C	45667962	G	C	45667962	3	2	131	1	0	0	0	0	1	0	0	0	5693	1310	46	5	5918	5	FANCM	14	45667962	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	22250875	45667962	61681578	138	33651											
SOS2	6655	genome.wustl.edu	37	chr14	50597263	50597263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaaaatacactaaggtctGaagaagcagatactggtgga	17	8	10	6	0	1	3	0	1	1	2	1	4	1	4	0	3	3	1	0	3	8	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:50597263G>A	ENST00000216373.5	-	20	3567	c.3293C>T	c.(3292-3294)tCa>tTa	p.S1098L	SOS2_ENST00000543680.1_Missense_Mutation_p.S1065L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1098					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)					ACTAAGGTCTGAAGAAGCAGA	0.403																																																	0													129	118	121					14																	50597263		2203	4300	6503	SO:0001583	missense	0			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.3293C>T	14.37:g.50597263G>A	ENSP00000216373:p.Ser1098Leu		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S1098L	ENST00000216373.5	37	c.3293	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113686	0.77210	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.79653	-1.29;-1.15	5.62	5.62	0.85841	.	0.140353	0.48286	D	0.000181	T	0.78084	0.4228	L	0.57536	1.79	0.80722	D	1	P;P	0.41546	0.754;0.754	B;B	0.34489	0.184;0.184	T	0.80885	-0.1182	10	0.59425	D	0.04	.	19.6501	0.95796	0.0:0.0:1.0:0.0	.	1065;1098	B7ZKT6;Q07890	.;SOS2_HUMAN	L	1098;1065	ENSP00000216373:S1098L;ENSP00000445328:S1065L	ENSP00000216373:S1098L	S	-	2	0	SOS2	49667013	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.977000	0.93446	2.657000	0.90304	0.484000	0.47621	TCA	SOS2	-	NULL	ENSG00000100485		0.403	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	-	0	76	0	G			50597263	-1	tier1	-	no_errors	ENST00000216373	ensembl	human	known	74_37	missense	51.96	49	53	SNP	1.000	A	A	50597263	G	A	50597263	3	1	131	1	0	0	0	0	1	0	0	0	14982	1294	45	3	721	3	SOS2	14	50597263	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	4929301	50597263	56752277	139	33652											
MAPK1IP1L	93487	genome.wustl.edu	37	chr14	55529950	55529950	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcctgcccctacaggatcGtatcccacaccaggactcta	10	9	6	16	1	1	0	0	0	1	0	4	2	3	2	5	2	2	1	5	2	4	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:55529950G>A	ENST00000395468.4	+	3	810	c.633G>A	c.(631-633)tcG>tcA	p.S211S		NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	211	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						CTACAGGATCGTATCCCACAC	0.607																																																	0													81	76	77					14																	55529950		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 32", "mitogen activated protein kinase 1 interacting protein 1-like"	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.633G>A	14.37:g.55529950G>A			B2RDD8|Q96BG5	Silent	SNP	NULL	p.S211	ENST00000395468.4	37	c.633	CCDS32085.1	14																																																																																			MAPK1IP1L	-	NULL	ENSG00000168175		0.607	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK1IP1L	HGNC	protein_coding	OTTHUMT00000411302.2		0	31	0	G	NM_144578		55529950	1			no_errors	ENST00000395468	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.989	A	A	55529950	G	A	55529950	2	1	131	1	0	0	0	0	0	0	0	1	9316	1132	40	1		1	MAPK1IP1L	14	55529950	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	4932687	55529950	51819590	140	33653											
C14orf149	112849	genome.wustl.edu	37	chr14	59945904	59945904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagagtattactgacctgaGctttcactgcctctgtcact	8	13	8	12	0	3	3	2	2	1	1	3	3	3	3	2	0	3	3	2	0	2	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:59945904G>T	ENST00000247194.4	-	2	787	c.674C>A	c.(673-675)gCt>gAt	p.A225D	RP11-701B16.2_ENST00000554253.1_RNA|L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A54D	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	225					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	ACTGACCTGAGCTTTCACTGC	0.393																																																	0													107	100	102					14																	59945904		2203	4300	6503	SO:0001583	missense	0			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.674C>A	14.37:g.59945904G>T	ENSP00000247194:p.Ala225Asp		Q96LJ5	Missense_Mutation	SNP	pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam	p.A225D	ENST00000247194.4	37	c.674	CCDS9739.1	14	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655129	0.29425	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.18657	2.2;2.2;2.2	5.68	4.74	0.60224	.	0.271361	0.42172	D	0.000752	T	0.25568	0.0622	L	0.48174	1.505	0.38146	D	0.938609	B	0.33964	0.434	B	0.43990	0.438	T	0.03587	-1.1022	10	0.10902	T	0.67	-16.4547	14.7904	0.69837	0.0:0.0:0.7794:0.2205	.	225	Q96EM0	PRCM_HUMAN	D	225;54;54	ENSP00000247194:A225D;ENSP00000431608:A54D;ENSP00000423874:A54D	ENSP00000247194:A225D	A	-	2	0	C14orf149	59015657	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	3.267000	0.51577	2.672000	0.90937	0.563000	0.77884	GCT	L3HYPDH	-	pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam	ENSG00000126790		0.393	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	L3HYPDH	HGNC	protein_coding	OTTHUMT00000072254.5		0	48	0	G	NM_144581		59945904	-1			no_errors	ENST00000247194	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	59945904	G	T	59945904	3	4	131	1	0	0	0	0	1	0	0	0	1757	971	34	3	406	3	C14orf149	14	59945904	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	4415954	59945904	47403636	141	33654											
HIF1A	3091	genome.wustl.edu	37	chr14	62200949	62200949	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactcaagcaactgtcatatAtaacaccaagaattctcaac	18	9	3	11	0	3	1	3	0	1	1	4	1	3	1	1	0	5	1	1	0	9	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:62200949A>T	ENST00000337138.4	+	8	1239	c.974A>T	c.(973-975)tAt>tTt	p.Y325F	HIF1A_ENST00000394997.1_Missense_Mutation_p.Y326F|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.Y349F|HIF1A_ENST00000557538.1_Missense_Mutation_p.Y266F|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.Y325F	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	325	Interaction with TSGA10. {ECO:0000250}.|PAC.				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)	ACTGTCATATATAACACCAAG	0.388																																																	0													118	105	109					14																	62200949		2203	4300	6503	SO:0001583	missense	0			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.974A>T	14.37:g.62200949A>T	ENSP00000338018:p.Tyr325Phe		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.Y349F	ENST00000337138.4	37	c.1046	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	A	29.2	4.982203	0.93044	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.44	5.44	0.79542	PAS fold-3 (1);PAS (1);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	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	0.999;0.999;0.999	T	0.23940	-1.0174	10	0.87932	D	0	.	15.7835	0.78281	1.0:0.0:0.0:0.0	.	326;325;325	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	F	76;266;325;326;325;266;349	ENSP00000338018:Y325F;ENSP00000378446:Y326F;ENSP00000323326:Y325F;ENSP00000451696:Y266F;ENSP00000437955:Y349F	ENSP00000323326:Y325F	Y	+	2	0	HIF1A	61270702	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	2.185000	0.69588	0.455000	0.32223	TAT	HIF1A	-	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAC,tigrfam_PAS	ENSG00000100644		0.388	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	-	0	98	0	A	NM_001530		62200949	1	tier1	-	no_errors	ENST00000539097	ensembl	human	known	74_37	missense	48.28	45	42	SNP	1.000	T	T	62200949	A	T	62200949	3	4	131	1	0	0	0	0	1	0	0	0	7130	449	16	5	1004	5	HIF1A	14	62200949	Missense_Mutation	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09	2255045	62200949	45148591	142	33655											
SMOC1	64093	genome.wustl.edu	37	chr14	70477638	70477638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtgtgctggtggacacagggCgcccgctgcctgggacctcc	4	7	16	14	2	0	0	0	0	0	0	1	2	1	2	4	4	2	2	4	4	0	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:70477638C>T	ENST00000381280.4	+	8	1085	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	SMOC1_ENST00000361956.3_Missense_Mutation_p.R278C	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	278	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.		R -> C (in OAS). {ECO:0000269|PubMed:21750680}.		cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GGACACAGGGCGCCCGCTGCC	0.607																																																	0													51	52	52					14																	70477638		2203	4300	6503	SO:0001583	missense	0			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.832C>T	14.37:g.70477638C>T	ENSP00000370680:p.Arg278Cys		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.R278C	ENST00000381280.4	37	c.832	CCDS9798.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.428457	0.96131	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.64803	-0.12;-0.12	5.6	5.6	0.85130	Thyroglobulin type-1 (4);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81602	0.4857	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.83025	-0.0165	10	0.87932	D	0	-22.0155	19.9627	0.97258	0.0:1.0:0.0:0.0	.	278;278	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	C	278	ENSP00000355110:R278C;ENSP00000370680:R278C	ENSP00000355110:R278C	R	+	1	0	SMOC1	69547391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.654000	0.61469	2.797000	0.96272	0.650000	0.86243	CGC	SMOC1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000198732		0.607	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMOC1	HGNC	protein_coding	OTTHUMT00000412467.1	-	0	60	0	C			70477638	1	tier1	-	no_errors	ENST00000361956	ensembl	human	known	74_37	missense	45.45	30	25	SNP	1.000	T	T	70477638	C	T	70477638	3	4	131	1	0	0	0	0	1	0	0	0	14846	768	27	1	862	1	SMOC1	14	70477638	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	8276689	70477638	36871902	143	33656											
CCNK	8812	genome.wustl.edu	37	chr14	99969323	99969323	+	Splice_Site	SNP	T	T	A	0	1	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	acaggttaagcgagccgtggTgagtgggctaaagcaggccc	10	6	16	9	2	0	1	0	1	0	0	0	2	0	1	2	4	3	3	2	4	3	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:99969323T>A	ENST00000389879.5	+	8	1134		c.e8+2		CCNK_ENST00000555049.1_Splice_Site	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K						cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CGAGCCGTGGTGAGTGGGCTA	0.617																																																	0													71	91	84					14																	99969323		2047	4203	6250	SO:0001630	splice_region_variant	0			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.1011+2T>A	14.37:g.99969323T>A			Q59FT6|Q86U16|Q96B63|Q9NNY9	Splice_Site	SNP	-	e7+2	ENST00000389879.5	37	c.1011+2	CCDS45160.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.89|11.89	1.773997|1.773997	0.31411|0.31411	.|.	.|.	ENSG00000090061|ENSG00000090061	ENST00000380246;ENST00000389879;ENST00000555049|ENST00000437596	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42810	.|0.1219	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34304	.|-0.9834	.|5	.|0.02654	.|T	.|1	.|-7.748	15.4233|15.4233	0.75031|0.75031	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|E	-1|338	.|.	.|ENSP00000395705:V338E	.|V	+|+	.|2	.|0	CCNK|CCNK	99039076|99039076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.077000|0.077000	0.17291|0.17291	6.405000|6.405000	0.73272|0.73272	2.092000|2.092000	0.63282|0.63282	0.460000|0.460000	0.39030|0.39030	.|GTG	CCNK	-	-	ENSG00000090061		0.617	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNK	HGNC	protein_coding	OTTHUMT00000413721.1	-	0	60	0	T		Intron	99969323	1	tier1	-	no_errors	ENST00000389879	ensembl	human	known	74_37	splice_site	20.90	53	14	SNP	1.000	A	A	99969323	T	A	99969323	5	1	131	1	0	0	0	0	0	0	1	0	2937	1710	59	5	1039	5	CCNK	14	99969323	Splice_Site	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	29491685	99969323	7380217	144	33657											
AHNAK2	113146	genome.wustl.edu	37	chr14	105406677	105406677	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctctgtggcaggctgacCccactcttagaagccttcat	7	12	8	14	0	4	2	1	1	3	1	5	2	4	2	3	2	1	2	3	2	2	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:105406677C>A	ENST00000333244.5	-	7	15230	c.15111G>T	c.(15109-15111)ggG>ggT	p.G5037G	AHNAK2_ENST00000557457.1_Silent_p.G35G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5037						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)			GCAGGCTGACCCCACTCTTAG	0.547																																																	0													98	102	101					14																	105406677		1989	4176	6165	SO:0001819	synonymous_variant	0			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.15111G>T	14.37:g.105406677C>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G5037	ENST00000333244.5	37	c.15111	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.547	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0	71	0	C	NM_138420		105406677	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	silent	5.26	71	4	SNP	0.000	A	A	105406677	C	A	105406677	2	1	131	1	0	0	0	0	0	0	0	1	415	610	22	3		3	AHNAK2	14	105406677	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	5437354	105406677	1942863	145	33658											
RYR3	6263	genome.wustl.edu	37	chr15	34042408	34042408	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	taccatatgacaccttgactGccaaggaaaagttcaaggac	15	8	8	10	0	1	2	1	2	0	0	1	4	1	4	3	2	2	1	3	2	6	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:34042408G>T	ENST00000389232.4	+	57	8390	c.8320G>T	c.(8320-8322)Gcc>Tcc	p.A2774S	RYR3_ENST00000415757.3_Missense_Mutation_p.A2774S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2774	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)		CACCTTGACTGCCAAGGAAAA	0.498																																																	0													73	69	70					15																	34042408		1940	4153	6093	SO:0001583	missense	0				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.8320G>T	15.37:g.34042408G>T	ENSP00000373884:p.Ala2774Ser		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A2774S	ENST00000389232.4	37	c.8320	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188738	0.78789	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91894	-2.93;-2.93	4.85	4.85	0.62838	Ryanodine receptor Ryr (1);	0.075926	0.51477	D	0.000085	D	0.95705	0.8603	M	0.82630	2.6	0.80722	D	1	B;P	0.34639	0.132;0.461	B;P	0.51833	0.134;0.681	D	0.94951	0.8100	10	0.45353	T	0.12	.	18.5103	0.90914	0.0:0.0:1.0:0.0	.	2774;2774	Q15413-2;Q15413	.;RYR3_HUMAN	S	2774	ENSP00000373884:A2774S;ENSP00000399610:A2774S	ENSP00000354735:A2774S	A	+	1	0	RYR3	31829700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.676000	0.91093	0.655000	0.94253	GCC	RYR3	-	pfam_Ryanodine_rcpt,superfamily_ARM-type_fold	ENSG00000198838		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	75	0	G			34042408	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	34042408	G	T	34042408	3	4	131	1	0	0	0	0	1	0	0	0	13815	1319	46	3	8546	3	RYR3	15	34042408	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		34042408	68488984	146	33659											
ARPP19	10776	genome.wustl.edu	37	chr15	52844185	52844185	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgttgaggaaggtcttgCggagtgggaatgtggtcacc	7	11	16	7	2	2	1	1	1	1	0	3	4	3	4	2	5	1	1	2	5	2	3	rs201676094		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:52844185C>A	ENST00000566423.1	-	4	418	c.285G>T	c.(283-285)ccG>ccT	p.P95P	ARPP19_ENST00000568196.1_Silent_p.P79P|ARPP19_ENST00000561650.1_Silent_p.P79P|ARPP19_ENST00000564163.1_Silent_p.P114P|ARPP19_ENST00000563566.1_Silent_p.P79P|ARPP19_ENST00000249822.4_Silent_p.P95P|ARPP19_ENST00000561971.1_Silent_p.P114P|ARPP19_ENST00000565288.1_5'UTR|ARPP19_ENST00000569723.1_Silent_p.P54P|ARPP19_ENST00000563277.1_Silent_p.P79P|ARPP19_ENST00000569281.2_Silent_p.P95P|ARPP19_ENST00000567669.1_Silent_p.P95P			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	95					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of glucose import (GO:0046326)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	phosphatase inhibitor activity (GO:0019212)|potassium channel regulator activity (GO:0015459)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GAAGGTCTTGCGGAGTGGGAA	0.488																																																	0													158	147	151					15																	52844185		2194	4293	6487	SO:0001819	synonymous_variant	0			AF084555	CCDS32242.1	15q11.2	2009-04-20	2009-04-20		ENSG00000128989	ENSG00000128989			16967	protein-coding gene	gene with protein product	"endosulfine alpha-like"	605487				11279279, 8687439	Standard	NM_006628		Approved	ARPP-19, ARPP-16, ARPP16, ENSAL	uc002acd.1	P56211		ENST00000566423.1:c.285G>T	15.37:g.52844185C>A			B2R497|Q6IAM2|Q86TA6|Q9UD70	Silent	SNP	pfam_Endosulphine	p.P95	ENST00000566423.1	37	c.285	CCDS32242.1	15																																																																																			ARPP19	-	NULL	ENSG00000128989		0.488	ARPP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP19	HGNC	protein_coding	OTTHUMT00000419834.1	-	0	54	0	C	NM_006628		52844185	-1	tier1	-	no_errors	ENST00000249822	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.994	A	A	52844185	C	A	52844185	2	1	131	1	0	0	0	0	0	0	0	1	978	755	27	2		2	ARPP19	15	52844185	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	18801777	52844185	49687207	147	33660											
ZWILCH	55055	genome.wustl.edu	37	chr15	66811367	66811370	+	Frame_Shift_Del	DEL	AACA	AACA	-																															ctaggagctgagcttatcacAacaaacaacagcattacagg																								rs150058435	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	AACA	AACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:66811367_66811370delAACA	ENST00000307897.5	+	5	851_854	c.471_474delAACA	c.(469-474)acaacafs	p.TT157fs	ZWILCH_ENST00000446801.2_Frame_Shift_Del_p.TT43fs|ZWILCH_ENST00000565960.1_Intron|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_Frame_Shift_Del_p.TT43fs|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Frame_Shift_Del_p.TT43fs	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	157					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						AGCTTATCACAACAAACAACAGCA	0.407																																																	0																																										SO:0001589	frameshift_variant	0			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.471_474delAACA	15.37:g.66811371_66811374delAACA	ENSP00000311429:p.Thr157fs		B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Frame_Shift_Del	DEL	pfam_RZZ-complex_zwilch	p.N159fs	ENST00000307897.5	37	c.471_474	CCDS10219.1	15																																																																																			ZWILCH	-	pfam_RZZ-complex_zwilch	ENSG00000174442		0.407	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZWILCH	HGNC	protein_coding	OTTHUMT00000256904.4		0	67	0	AACA	NM_017975		66811370	1			no_errors	ENST00000307897	ensembl	human	known	74_37	frame_shift_del	9.09	60	6	DEL	0.000:0.000:0.007:0.000	0	-	66811370	AACA	-	66811367	7	5	131	1	0	1	0	1	0	0	0	0	18296	117	5	0	489	0	ZWILCH	15	66811367	Frame_Shift_Del	DEL	AACA	TCGA-LN-A8I1-01A-11D-A36J-09	13967182	66811367	35720025	148	33661											
ACSBG1	23205	genome.wustl.edu	37	chr15	78475123	78475123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgtggcaactgtttcCagatctgcattgacaggaaa	12	12	10	7	0	1	3	0	1	1	2	2	4	2	4	1	2	2	3	1	2	3	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:78475123C>A	ENST00000258873.4	-	6	873	c.668G>T	c.(667-669)tGg>tTg	p.W223L	ACSBG1_ENST00000560817.1_5'UTR|ACSBG1_ENST00000541759.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	223					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.W223S(1)|p.W223*(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAACTGTTTCCAGATCTGCAT	0.463																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|liver(1)											101	93	96					15																	78475123		2196	4293	6489	SO:0001583	missense	0			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.668G>T	15.37:g.78475123C>A	ENSP00000258873:p.Trp223Leu		B2RB61|O75126|Q76N27|Q9HC26	Nonsense_Mutation	SNP	NULL	p.G46*	ENST00000258873.4	37	c.136	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911126	0.72983	.	.	ENSG00000103740	ENST00000258873	T	0.08102	3.13	5.49	5.49	0.81192	AMP-dependent synthetase/ligase (1);	0.149009	0.48286	D	0.000196	T	0.07908	0.0198	N	0.21194	0.64	0.80722	D	1	P;B	0.35383	0.498;0.006	B;B	0.40329	0.326;0.065	T	0.44772	-0.9306	10	0.25751	T	0.34	-19.4471	11.7867	0.52047	0.0:0.9207:0.0:0.0793	.	219;223	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	L	223	ENSP00000258873:W223L	ENSP00000258873:W223L	W	-	2	0	ACSBG1	76262178	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	3.540000	0.53611	2.565000	0.86533	0.655000	0.94253	TGG	ACSBG1	-	NULL	ENSG00000103740		0.463	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2		0	30	0	C	NM_015162		78475123	-1			no_errors	ENST00000560124	ensembl	human	known	74_37	nonsense	6.00	46	3	SNP	1.000	A	A	78475123	C	A	78475123	3	1	131	1	0	0	0	0	1	0	0	0	173	595	21	3	1542	3	ACSBG1	15	78475123	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	11663756	78475123	24056269	149	33662											
TNRC6A	27327	genome.wustl.edu	37	chr16	24818001	24818001	+	Missense_Mutation	SNP	A	A	G	1	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	atctcagcagcagccactccAtcagccagccatgaagtctt	11	8	7	15	0	3	1	2	1	2	0	5	1	4	1	4	0	5	2	4	0	1	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:24818001A>G	ENST00000395799.3	+	17	4565	c.4436A>G	c.(4435-4437)cAt>cGt	p.H1479R	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.H1430R|TNRC6A_ENST00000432286.2_5'Flank	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1479					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)		CAGCCACTCCATCAGCCAGCC	0.493																																																	0													135	115	122					16																	24818001		2197	4300	6497	SO:0001583	missense	0			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.4436A>G	16.37:g.24818001A>G	ENSP00000379144:p.His1479Arg		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.H1479R	ENST00000395799.3	37	c.4436	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300371	0.81136	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.14022	2.56;2.54	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.983;1.0;0.978;0.993	P;D;P;D	0.85130	0.756;0.997;0.796;0.977	T	0.05733	-1.0867	10	0.33940	T	0.23	-9.1556	16.6154	0.84909	1.0:0.0:0.0:0.0	.	146;618;1430;1479	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.;.;.;TNR6A_HUMAN	R	1430;1479	ENSP00000326900:H1430R;ENSP00000379144:H1479R	ENSP00000326900:H1430R	H	+	2	0	TNRC6A	24725502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.364000	0.73086	2.315000	0.78130	0.533000	0.62120	CAT	TNRC6A	-	NULL	ENSG00000090905		0.493	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	-	0	64	0	A	NM_020847		24818001	1	tier1	-	no_errors	ENST00000395799	ensembl	human	known	74_37	missense	47.37	60	54	SNP	1.000	G	G	24818001	A	G	24818001	3	3	131	1	0	0	0	0	1	0	0	0	16387	217	8	4	4502	4	TNRC6A	16	24818001	Missense_Mutation	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09		24818001	65536752	150	33663											
AMFR	267	genome.wustl.edu	37	chr16	56397878	56397878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttacgctgcaccagcatgCgctgtctctcatcagcagac	8	9	8	16	2	3	1	2	0	1	1	4	1	3	1	2	0	5	5	2	0	1	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:56397878C>T	ENST00000290649.5	-	13	1949	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	580					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CACCAGCATGCGCTGTCTCTC	0.572																																					Pancreas(2;144 323 39528)												0													65	54	58					16																	56397878		2198	4300	6498	SO:0001583	missense	0			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1739G>A	16.37:g.56397878C>T	ENSP00000290649:p.Arg580His		P26442|Q8IZ70	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING	p.R580H	ENST00000290649.5	37	c.1739	CCDS10758.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.31|16.31	3.086372|3.086372	0.55861|0.55861	.|.	.|.	ENSG00000159461|ENSG00000159461	ENST00000314566|ENST00000290649	.|T	.|0.15834	.|2.39	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|0.219986	.|0.49916	.|D	.|0.000131	T|T	0.33147|0.33147	0.0853|0.0853	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999997|0.999997	.|B;D	.|0.61080	.|0.407;0.989	.|B;P	.|0.51135	.|0.02;0.66	T|T	0.13150|0.13150	-1.0520|-1.0520	6|10	0.62326|0.66056	D|D	0.03|0.02	-24.8058|-24.8058	18.5393|18.5393	0.91022|0.91022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|580;229	.|Q9UKV5;Q1RN03	.|AMFR2_HUMAN;.	T|H	5|580	.|ENSP00000290649:R580H	ENSP00000313137:A5T|ENSP00000290649:R580H	A|R	-|-	1|2	0|0	AMFR|AMFR	54955379|54955379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	3.744000|3.744000	0.55112|0.55112	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	GCA|CGC	AMFR	-	NULL	ENSG00000159461		0.572	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMFR	HGNC	protein_coding	OTTHUMT00000256978.2		0	31	0	C			56397878	-1			no_errors	ENST00000290649	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	56397878	C	T	56397878	3	4	131	1	0	0	0	0	1	0	0	0	571	768	27	1	200	1	AMFR	16	56397878	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	31579877	56397878	33956875	151	33664											
C16orf70	80262	genome.wustl.edu	37	chr16	67174430	67174430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatgaaaattcattctcCttcccctcataaacaagttc	14	12	3	12	0	3	2	2	1	1	1	6	2	4	2	3	0	1	1	3	0	5	5	rs535720215		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:67174430C>A	ENST00000219139.3	+	10	1000	c.812C>A	c.(811-813)cCt>cAt	p.P271H	C16orf70_ENST00000569600.1_Missense_Mutation_p.P271H	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	271										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATTCATTCTCCTTCCCCTCAT	0.348																																																	0													128	124	125					16																	67174430		2198	4300	6498	SO:0001583	missense	0			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.812C>A	16.37:g.67174430C>A	ENSP00000219139:p.Pro271His		Q9HA86	Missense_Mutation	SNP	pfam_UPF0183	p.P271H	ENST00000219139.3	37	c.812	CCDS10828.1	16	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724172	0.48728	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.74876	-0.3515	9	0.29301	T	0.29	0.0031	18.757	0.91836	0.0:1.0:0.0:0.0	.	271	Q9BSU1	CP070_HUMAN	H	271	.	ENSP00000219139:P271H	P	+	2	0	C16orf70	65731931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.771000	0.95319	0.563000	0.77884	CCT	C16orf70	-	pfam_UPF0183	ENSG00000125149		0.348	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf70	HGNC	protein_coding	OTTHUMT00000268829.2		0	48	0	C	NM_025187		67174430	1			no_errors	ENST00000219139	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	67174430	C	A	67174430	3	1	131	1	0	0	0	0	1	0	0	0	1834	681	24	3	850	3	C16orf70	16	67174430	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	10776552	67174430	23180323	152	33665											
HYDIN	54768	genome.wustl.edu	37	chr16	71061539	71061539	+	Missense_Mutation	SNP	T	T	C	0	1	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	aatagccttcgagtatcacaTcaattgcctggcctgggtac	10	11	9	11	1	2	0	2	0	0	0	3	1	2	0	3	2	3	2	3	2	5	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:71061539T>C	ENST00000393567.2	-	20	3158	c.3008A>G	c.(3007-3009)gAt>gGt	p.D1003G	HYDIN_ENST00000448691.1_Missense_Mutation_p.D1003G|HYDIN_ENST00000321489.5_Missense_Mutation_p.D1003G|HYDIN_ENST00000448089.2_Missense_Mutation_p.D1003G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1003					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)				GAGTATCACATCAATTGCCTG	0.507																																																	0													21	23	22					16																	71061539		2189	4292	6481	SO:0001583	missense	0			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.3008A>G	16.37:g.71061539T>C	ENSP00000377197:p.Asp1003Gly		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.D1003G	ENST00000393567.2	37	c.3008	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694939	0.68386	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	4.85	4.85	0.62838	.	0.000000	0.33457	U	0.004899	T	0.34366	0.0895	M	0.77616	2.38	0.80722	D	1	D;P	0.69078	0.997;0.93	D;P	0.65233	0.933;0.558	T	0.10776	-1.0615	10	0.25751	T	0.34	.	14.1344	0.65276	0.0:0.0:0.0:1.0	.	1003;1003	Q4G0P3-5;F8WD23	.;.	G	1003	ENSP00000377197:D1003G;ENSP00000398544:D1003G;ENSP00000394826:D1003G;ENSP00000314736:D1003G	ENSP00000313052:D1003G	D	-	2	0	HYDIN	69619040	0.994000	0.37717	0.281000	0.24762	0.618000	0.37518	6.537000	0.73847	1.849000	0.53698	0.409000	0.27619	GAT	HYDIN	-	NULL	ENSG00000157423		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	26	0	T			71061539	-1	tier1	-	no_errors	ENST00000448089	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.998	C	C	71061539	T	C	71061539	3	2	131	1	0	0	0	0	1	0	0	0	7494	1435	50	4	12634	4	HYDIN	16	71061539	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	3887109	71061539	19293214	153	33666											
ZFHX3	463	genome.wustl.edu	37	chr16	72831382	72831382	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgttgttgttgttgttgTtgttgctgttgctgctgctg	0	23	14	4	0	0	0	0	0	0	0	0	0	0	0	0	0	4	13	0	0	0	9	rs112722798	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:72831382T>C	ENST00000268489.5	-	9	5871	c.5199A>G	c.(5197-5199)caA>caG	p.Q1733Q	ZFHX3_ENST00000397992.5_Silent_p.Q819Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1733	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gttgttgttgttgttgctgtt	0.532																																																	0								T	,	2,4394	2.1+/-5.4	0,2,2196	44	41	42		2457,5199	-9.9	0.5	16	dbSNP_132	42	9,8591	3.7+/-12.6	0,9,4291	no	coding-synonymous,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,11,6487	CC,CT,TT		0.1047,0.0455,0.0846	,	819/2790,1733/3704	72831382	11,12985	2198	4300	6498	SO:0001819	synonymous_variant	0			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.5199A>G	16.37:g.72831382T>C			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.Q1733	ENST00000268489.5	37	c.5199	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.532	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1		0	9	0	T	NM_006885		72831382	-1			no_errors	ENST00000268489	ensembl	human	known	74_37	silent	19.35	25	6	SNP	0.934	C	C	72831382	T	C	72831382	2	2	131	1	0	0	0	0	0	0	0	1	17682	1722	60	4		4	ZFHX3	16	72831382	Silent	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	1769843	72831382	17523371	154	33667											
CENPN	55839	genome.wustl.edu	37	chr16	81047747	81047747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttttctcttttaggaaaagCgtgcaagtatcagtgatgct	10	15	10	6	1	2	1	1	1	1	0	3	2	2	2	0	1	3	4	0	1	5	5	rs199499043		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:81047747C>T	ENST00000305850.5	+	3	968	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	CENPN_ENST00000393335.3_Missense_Mutation_p.R60C|CENPN_ENST00000299572.5_Missense_Mutation_p.R60C|CENPN_ENST00000428963.2_Missense_Mutation_p.R60C|CMC2_ENST00000565914.1_Intron|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000439957.3_Missense_Mutation_p.R60C|CENPN_ENST00000569461.1_3'UTR	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	60					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						TTAGGAAAAGCGTGCAAGTAT	0.323																																																	0													148	140	143					16																	81047747		2203	4300	6503	SO:0001583	missense	0			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.178C>T	16.37:g.81047747C>T	ENSP00000305608:p.Arg60Cys		A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	pfam_Chl4/mis15/CENP-N	p.R60C	ENST00000305850.5	37	c.178	CCDS42200.1	16	.	.	.	.	.	.	.	.	.	.	C	3.511	-0.099699	0.07010	.	.	ENSG00000166451	ENST00000305850;ENST00000299572;ENST00000439957;ENST00000393335;ENST00000428963	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.75	-1.25	0.09405	.	1.284980	0.04590	N	0.396657	T	0.13841	0.0335	N	0.20401	0.57	0.09310	N	1	B;B;B;B;B	0.13145	0.005;0.001;0.002;0.001;0.007	B;B;B;B;B	0.12156	0.007;0.004;0.005;0.003;0.004	T	0.32214	-0.9915	10	0.35671	T	0.21	5.8692	7.3446	0.26656	0.1174:0.3117:0.0:0.5709	.	60;60;60;60;60	E7ETS3;E7ES30;A8MZE6;Q96H22;Q96H22-2	.;.;.;CENPN_HUMAN;.	C	60	ENSP00000305608:R60C;ENSP00000299572:R60C;ENSP00000395235:R60C;ENSP00000377007:R60C;ENSP00000393991:R60C	ENSP00000299572:R60C	R	+	1	0	CENPN	79605248	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.942000	0.03921	-0.471000	0.06891	-0.142000	0.14014	CGT	CENPN	-	pfam_Chl4/mis15/CENP-N	ENSG00000166451		0.323	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CENPN	HGNC	protein_coding	OTTHUMT00000269051.1	-	0	47	0	C	NM_018455		81047747	1	tier1	rs199499043	no_errors	ENST00000299572	ensembl	human	known	74_37	missense	12.70	55	8	SNP	0.000	T	T	81047747	C	T	81047747	3	4	131	1	0	0	0	0	1	0	0	0	3245	768	27	1	184	1	CENPN	16	81047747	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	8216365	81047747	9307006	155	33668											
LRRC50	123872	genome.wustl.edu	37	chr16	84209698	84209698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcaaaggcggctcgggtgCccttcacagacatctttaaa	10	9	9	13	2	3	1	2	0	1	1	4	1	3	1	2	3	1	1	2	3	3	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:84209698C>T	ENST00000378553.5	+	11	1982	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	620					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						GGCTCGGGTGCCCTTCACAGA	0.498											OREG0023983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													45	44	44					16																	84209698		2200	4300	6500	SO:0001583	missense	0			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.1858C>T	16.37:g.84209698C>T	ENSP00000367815:p.Pro620Ser	1227	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	NULL	p.P620S	ENST00000378553.5	37	c.1858	CCDS10943.2	16	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760019	0.49468	.	.	ENSG00000154099	ENST00000378553	T	0.48201	0.82	5.0	3.06	0.35304	.	0.536026	0.18074	N	0.152506	T	0.48295	0.1492	L	0.54323	1.7	0.26117	N	0.980607	D;D	0.56287	0.971;0.975	P;P	0.49752	0.621;0.59	T	0.39961	-0.9588	10	0.66056	D	0.02	-3.9823	7.7046	0.28642	0.0:0.8119:0.0:0.1881	.	384;620	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	S	620	ENSP00000367815:P620S	ENSP00000367815:P620S	P	+	1	0	DNAAF1	82767199	0.066000	0.20996	0.014000	0.15608	0.027000	0.11550	1.973000	0.40550	0.694000	0.31654	0.563000	0.77884	CCC	DNAAF1	-	NULL	ENSG00000154099		0.498	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	HGNC	protein_coding	OTTHUMT00000250328.3		0	45	0	C	NM_178452		84209698	1			no_errors	ENST00000378553	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.044	T	T	84209698	C	T	84209698	3	4	131	1	0	0	0	0	1	0	0	0	9044	739	26	3	1900	3	LRRC50	16	84209698	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	3161951	84209698	6145055	156	33669											
SMG6	23293	genome.wustl.edu	37	chr17	2196214	2196214	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggcttgctcccggtaccTagcaatatctccttggcata	8	12	8	13	1	1	0	0	0	1	0	3	0	2	0	3	3	3	5	3	3	5	6			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:2196214T>C	ENST00000263073.6	-	5	2259	c.2209A>G	c.(2209-2211)Agg>Ggg	p.R737G	SMG6_ENST00000544865.1_Missense_Mutation_p.R706G	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	737					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						TCCCGGTACCTAGCAATATCT	0.443																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													137	127	131					17																	2196214		2203	4300	6503	SO:0001583	missense	0			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.2209A>G	17.37:g.2196214T>C	ENSP00000263073:p.Arg737Gly		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PIN_dom	p.R737G	ENST00000263073.6	37	c.2209	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	T	20.2	3.942768	0.73672	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.27557	1.66;1.66	5.26	4.16	0.48862	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64537	-0.6384	10	0.87932	D	0	-9.5928	11.8781	0.52558	0.0:0.0:0.4712:0.5288	.	737	Q86US8	EST1A_HUMAN	G	737;706	ENSP00000263073:R737G;ENSP00000443920:R706G	ENSP00000263073:R737G	R	-	1	2	SMG6	2142964	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.106000	0.31098	0.813000	0.34350	0.383000	0.25322	AGG	SMG6	-	pfam_EST1	ENSG00000070366		0.443	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3		0	32	0	T			2196214	-1			no_errors	ENST00000263073	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	C	C	2196214	T	C	2196214	3	2	131	1	0	0	0	0	1	0	0	0	14842	1521	53	4	2110	4	SMG6	17	2196214	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09		2196214	78998996	157	33670											
ZZEF1	23140	genome.wustl.edu	37	chr17	3969750	3969750	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcacactcacccaggctctCagggttcacctcagtagctt	9	9	8	15	0	4	0	4	0	1	0	5	0	4	0	2	2	2	5	2	2	1	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:3969750C>G	ENST00000381638.2	-	28	4364	c.4240G>C	c.(4240-4242)Gag>Cag	p.E1414Q		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1414							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						CCCAGGCTCTCAGGGTTCACC	0.453																																																	0													207	194	199					17																	3969750		2203	4300	6503	SO:0001583	missense	0			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.4240G>C	17.37:g.3969750C>G	ENSP00000371051:p.Glu1414Gln		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.E1414Q	ENST00000381638.2	37	c.4240	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742787	0.49151	.	.	ENSG00000074755	ENST00000381638	T	0.25749	1.78	5.38	4.4	0.53042	.	0.185192	0.47852	D	0.000218	T	0.16685	0.0401	L	0.29908	0.895	0.41256	D	0.986743	P;P	0.39883	0.693;0.567	B;B	0.35470	0.203;0.1	T	0.02371	-1.1169	10	0.49607	T	0.09	-19.5113	9.2182	0.37360	0.0:0.7762:0.147:0.0768	.	1414;1414	O43149-2;O43149	.;ZZEF1_HUMAN	Q	1414	ENSP00000371051:E1414Q	ENSP00000371051:E1414Q	E	-	1	0	ZZEF1	3916499	0.996000	0.38824	0.998000	0.56505	0.831000	0.47069	3.527000	0.53517	2.511000	0.84671	0.561000	0.74099	GAG	ZZEF1	-	NULL	ENSG00000074755		0.453	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	-	0	59	0	C	NM_015113		3969750	-1	tier1	-	no_errors	ENST00000381638	ensembl	human	known	74_37	missense	35.45	71	39	SNP	0.996	G	G	3969750	C	G	3969750	3	3	131	1	0	0	0	0	1	0	0	0	18303	835	29	5	4757	5	ZZEF1	17	3969750	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	1773536	3969750	77225460	158	33671											
ZZEF1	23140	genome.wustl.edu	37	chr17	3992103	3992103	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctgctcttgcaggccGgaggtacccactgatggtca	6	11	12	12	1	3	1	1	1	2	0	3	2	3	2	2	4	4	4	2	4	1	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:3992103G>T	ENST00000381638.2	-	13	2234	c.2110C>A	c.(2110-2112)Cgg>Agg	p.R704R	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	704							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						CTTGCAGGCCGGAGGTACCCA	0.572																																																	0													134	100	111					17																	3992103		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2110C>A	17.37:g.3992103G>T			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.R704	ENST00000381638.2	37	c.2110	CCDS11043.1	17																																																																																			ZZEF1	-	NULL	ENSG00000074755		0.572	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	-	0	49	0	G	NM_015113		3992103	-1	tier1	-	no_errors	ENST00000381638	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.998	T	T	3992103	G	T	3992103	2	4	131	1	0	0	0	0	0	0	0	1	18303	1115	39	2		2	ZZEF1	17	3992103	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	22353	3992103	77203107	159	33672											
TP53	7157	genome.wustl.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	0	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	40	0	C	NM_000546		7577538	-1	tier1	rs11540652	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	79.66	24	94	SNP	1.000	T	T	7577538	C	T	7577538	3	4	131	1	0	0	0	0	1	0	0	0	16429	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	3585435	7577538	73617672	160	33673											
NEK8	284086	genome.wustl.edu	37	chr17	27062333	27062333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagaagagtgacatctggGccctgggctgtgtcctctac	8	9	12	12	0	2	3	0	1	2	2	3	3	3	3	3	2	1	1	3	2	2	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:27062333G>T	ENST00000268766.6	+	4	596	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGACATCTGGGCCCTGGGCTG	0.577																																					NSCLC(6;19 293 14866 25253 49845)												0													58	53	55					17																	27062333		2203	4300	6503	SO:0001583	missense	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.562G>T	17.37:g.27062333G>T	ENSP00000268766:p.Ala188Ser		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A188S	ENST00000268766.6	37	c.562	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.200220	0.97371	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.12255	2.7;2.7	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);	0.051156	0.85682	D	0.000000	T	0.11410	0.0278	N	0.04090	-0.28	0.80722	D	1	P	0.45634	0.863	P	0.49276	0.605	T	0.40496	-0.9560	10	0.15499	T	0.54	.	18.8895	0.92392	0.0:0.0:1.0:0.0	.	188	Q86SG6	NEK8_HUMAN	S	188	ENSP00000465859:A188S;ENSP00000268766:A188S	ENSP00000268766:A188S	A	+	1	0	NEK8	24086460	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.622000	0.98378	2.704000	0.92352	0.549000	0.68633	GCC	NEK8	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000160602		0.577	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	-	0	53	0	G			27062333	1	tier1	-	no_errors	ENST00000268766	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	27062333	G	T	27062333	3	4	131	1	0	0	0	0	1	0	0	0	10369	1203	42	3	576	3	NEK8	17	27062333	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	19484795	27062333	54132877	161	33674											
TADA2A	6871	genome.wustl.edu	37	chr17	35830506	35830506	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgttttctatacccccaggtGccagaacctacgatcacctc	9	11	6	15	1	2	1	1	0	1	1	3	2	2	1	5	1	4	1	5	1	4	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:35830506G>T	ENST00000394395.2	+	13	1071	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S	TADA2A_ENST00000225396.6_Missense_Mutation_p.A300S|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	300					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ACCCCCAGGTGCCAGAACCTA	0.468																																																	0													113	109	111					17																	35830506		2203	4300	6503	SO:0001583	missense	0			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.898G>T	17.37:g.35830506G>T	ENSP00000377918:p.Ala300Ser		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom	p.A300S	ENST00000394395.2	37	c.898	CCDS11319.1	17	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955642	0.92726	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.50277	0.75;0.75	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	L	0.52573	1.65	0.80722	D	1	D	0.67145	0.996	P	0.61070	0.883	T	0.56105	-0.8034	10	0.34782	T	0.22	-12.2535	19.6383	0.95746	0.0:0.0:1.0:0.0	.	300	O75478	TAD2A_HUMAN	S	300;199;300	ENSP00000377918:A300S;ENSP00000225396:A300S	ENSP00000225396:A300S	A	+	1	0	TADA2A	32904619	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	9.459000	0.97638	2.631000	0.89168	0.655000	0.94253	GCC	TADA2A	-	pirsf_Transcriptional_adaptor_2	ENSG00000108264		0.468	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2A	HGNC	protein_coding	OTTHUMT00000256677.3	-	0	42	0	G	NM_001488		35830506	1	tier1	-	no_errors	ENST00000225396	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	35830506	G	T	35830506	3	4	131	1	0	0	0	0	1	0	0	0	15557	1319	46	3	1039	3	TADA2A	17	35830506	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	8768173	35830506	45364704	162	33675											
TOP2A	7153	genome.wustl.edu	37	chr17	38569797	38569797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccaaatatgagagctGggacatacatcttttcaact	12	12	8	9	0	2	1	1	1	1	1	3	3	3	2	1	1	3	2	1	1	4	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:38569797G>T	ENST00000423485.1	-	5	571	c.413C>A	c.(412-414)cCa>cAa	p.P138Q		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	138					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)	TATGAGAGCTGGGACATACAT	0.323																																																	0													82	75	77					17																	38569797		1474	3278	4752	SO:0001583	missense	0				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.413C>A	17.37:g.38569797G>T	ENSP00000411532:p.Pro138Gln		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.P138Q	ENST00000423485.1	37	c.413	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	g	16.26	3.073716	0.55646	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.26660	1.72	5.75	4.79	0.61399	ATPase-like, ATP-binding domain (4);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.109027	0.64402	D	0.000005	T	0.67896	0.2942	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82096	-0.0626	10	0.87932	D	0	.	15.0798	0.72106	0.0681:0.0:0.9319:0.0	.	138	P11388	TOP2A_HUMAN	Q	138;137;137;138	ENSP00000411532:P138Q	ENSP00000269577:P137Q	P	-	2	0	TOP2A	35823323	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	7.976000	0.88070	1.458000	0.47871	-0.196000	0.12772	CCA	TOP2A	-	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_Topo_IIA	ENSG00000131747		0.323	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0	98	0	G			38569797	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	38569797	G	T	38569797	3	4	131	1	0	0	0	0	1	0	0	0	16413	1348	47	3	4306	3	TOP2A	17	38569797	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	2739291	38569797	42625413	163	33676											
UBTF	7343	genome.wustl.edu	37	chr17	42286802	42286802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgctccttctggctctggGagatgcgctgccagcgactg	5	10	14	12	2	2	1	0	0	2	1	3	3	3	1	2	2	4	3	2	2	0	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:42286802G>T	ENST00000302904.4	-	17	2315	c.1823C>A	c.(1822-1824)tCc>tAc	p.S608Y	UBTF_ENST00000527034.1_Missense_Mutation_p.S571Y|UBTF_ENST00000436088.1_Missense_Mutation_p.S608Y|UBTF_ENST00000393606.3_Missense_Mutation_p.S571Y|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.S571Y|UBTF_ENST00000533177.1_Missense_Mutation_p.S571Y|UBTF_ENST00000343638.5_Missense_Mutation_p.S571Y|UBTF_ENST00000529383.1_Missense_Mutation_p.S608Y			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	608					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)		CTGGCTCTGGGAGATGCGCTG	0.592																																																	0													86	72	77					17																	42286802		2203	4300	6503	SO:0001583	missense	0			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.1823C>A	17.37:g.42286802G>T	ENSP00000302640:p.Ser608Tyr		A8K6R8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S608Y	ENST00000302904.4	37	c.1823	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956403	0.92726	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.16	5.16	0.70880	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.122076	0.56097	D	0.000025	T	0.72859	0.3513	M	0.73598	2.24	0.48975	D	0.999739	D;D;D	0.76494	0.999;0.995;0.995	D;D;D	0.71656	0.966;0.914;0.974	T	0.76206	-0.3044	10	0.66056	D	0.02	-14.4798	18.2838	0.90107	0.0:0.0:1.0:0.0	.	571;571;608	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	Y	571;608;571;571;608;571;571;608	ENSP00000345297:S571Y;ENSP00000302640:S608Y;ENSP00000431539:S571Y;ENSP00000437180:S571Y;ENSP00000390669:S608Y;ENSP00000377231:S571Y;ENSP00000432925:S571Y;ENSP00000435708:S608Y	ENSP00000302640:S608Y	S	-	2	0	UBTF	39642328	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.423000	0.73361	2.409000	0.81822	0.462000	0.41574	TCC	UBTF	-	superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000108312		0.592	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	-	0	38	0	G	NM_014233		42286802	-1	tier1	-	no_errors	ENST00000302904	ensembl	human	known	74_37	missense	58.33	20	28	SNP	1.000	T	T	42286802	G	T	42286802	3	4	131	1	0	0	0	0	1	0	0	0	16958	1174	41	3	491	3	UBTF	17	42286802	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	3717005	42286802	38908408	164	33677											
SLC4A1	6521	genome.wustl.edu	37	chr17	42335486	42335486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcggcgccggatatcacGcaccaggcccccgaagagct	9	4	13	15	5	1	1	1	0	0	1	1	3	1	2	4	3	2	3	4	3	3	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:42335486G>A	ENST00000262418.6	-	11	1305	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	384					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)		CGGATATCACGCACCAGGCCC	0.577																																																	0													74	80	78					17																	42335486		2203	4300	6503	SO:0001583	missense	0				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.1150C>T	17.37:g.42335486G>A	ENSP00000262418:p.Arg384Cys		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.R384C	ENST00000262418.6	37	c.1150	CCDS11481.1	17	.	.	.	.	.	.	.	.	.	.	g	17.87	3.495763	0.64186	.	.	ENSG00000004939	ENST00000262418	T	0.80214	-1.35	4.82	3.8	0.43715	Bicarbonate transporter, C-terminal (1);Anion exchange, conserved site (1);	0.209958	0.37304	N	0.002160	D	0.88724	0.6514	M	0.86953	2.85	0.30842	N	0.735536	D;D	0.76494	0.999;0.999	P;P	0.62382	0.88;0.901	D	0.87538	0.2457	10	0.87932	D	0	.	12.3115	0.54931	0.0:0.0:0.7332:0.2668	.	384;384	E2RVJ0;P02730	.;B3AT_HUMAN	C	384	ENSP00000262418:R384C	ENSP00000262418:R384C	R	-	1	0	SLC4A1	39691012	0.418000	0.25440	0.712000	0.30502	0.913000	0.54294	1.988000	0.40697	2.490000	0.84030	0.561000	0.74099	CGT	SLC4A1	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000004939		0.577	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	-	0	32	0	G	NM_000342		42335486	-1	tier1	-	no_errors	ENST00000262418	ensembl	human	known	74_37	missense	40.00	27	18	SNP	0.117	A	A	42335486	G	A	42335486	3	1	131	1	0	0	0	0	1	0	0	0	14695	1087	38	1	1625	1	SLC4A1	17	42335486	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	48684	42335486	38859724	165	33678											
EPN3	55040	genome.wustl.edu	37	chr17	48618874	48618874	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccaagcaaaatggcacGaaggagccagatgccctgga	14	5	12	10	1	0	1	0	0	0	1	1	4	1	3	3	3	3	3	3	3	4	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:48618874G>T	ENST00000268933.3	+	9	1983	c.1404G>T	c.(1402-1404)acG>acT	p.T468T	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Silent_p.T496T|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	468						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)			AAAATGGCACGAAGGAGCCAG	0.582																																																	0													55	56	55					17																	48618874		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1404G>T	17.37:g.48618874G>T			A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.T496	ENST00000268933.3	37	c.1488	CCDS11570.1	17																																																																																			EPN3	-	NULL	ENSG00000049283		0.582	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN3	HGNC	protein_coding	OTTHUMT00000367573.1		0	40	0	G	NM_017957		48618874	1			no_errors	ENST00000537145	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.000	T	T	48618874	G	T	48618874	2	4	131	1	0	0	0	0	0	0	0	1	5203	1045	37	2		2	EPN3	17	48618874	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	6283388	48618874	32576336	166	33679											
LGALS3BP	3959	genome.wustl.edu	37	chr17	76968463	76968480	+	In_Frame_Del	DEL	TCGCTGGGCACCGCCAGG	TCGCTGGGCACCGCCAGG	-																															cggccttcagtagggccagcTcgctgggcaccgccaggtcg																								rs541114993		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	TCGCTGGGCACCGCCAGG	TCGCTGGGCACCGCCAGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:76968463_76968480delTCGCTGGGCACCGCCAGG	ENST00000262776.3	-	6	1244_1261	c.936_953delCCTGGCGGTGCCCAGCGA	c.(934-954)gacctggcggtgcccagcgag>gag	p.DLAVPS312del	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	312	BACK.				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)			TAGGGCCAGCTCGCTGGGCACCGCCAGGTCGCTCCTGG	0.665																																					GBM(89;1105 1755 18102 21513)												0																																										SO:0001651	inframe_deletion	0			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.936_953delCCTGGCGGTGCCCAGCGA	17.37:g.76968463_76968480delTCGCTGGGCACCGCCAGG	ENSP00000262776:p.Asp312_Ser317del		Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	In_Frame_Del	DEL	pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR	p.DLAVPS312in_frame_del	ENST00000262776.3	37	c.953_936	CCDS11759.1	17																																																																																			LGALS3BP	-	pfam_BACK,smart_BACK	ENSG00000108679		0.665	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	HGNC	protein_coding	OTTHUMT00000437785.3		0	27	0	TCGCTGGGCACCGCCAGG	NM_005567		76968480	-1			no_errors	ENST00000262776	ensembl	human	known	74_37	in_frame_del	7.04	66	5	DEL	0.996:1.000:1.000:1.000:1.000:0.993:0.989:0.952:0.941:0.902:0.724:0.021:0.122:0.961:0.997:0.997:0.986:0.944	0	-	76968480	TCGCTGGGCACCGCCAGG	-	76968463	7	5	131	1	0	1	0	1	0	0	0	0	8772	1551	54	0	808	0	LGALS3BP	17	76968463	In_Frame_Del	DEL	TCGCTGGGCACCGCCAGG	TCGA-LN-A8I1-01A-11D-A36J-09	28349589	76968463	4226747	167	33680											
C1QTNF1	114897	genome.wustl.edu	37	chr17	77043896	77043896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttctactgctacgtgcccgGcctctacttcttcagcctca	5	13	7	16	2	5	0	2	0	3	0	5	0	5	0	3	1	6	2	3	1	3	6			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:77043896G>A	ENST00000339142.2	+	5	1127	c.572G>A	c.(571-573)gGc>gAc	p.G191D	C1QTNF1_ENST00000580474.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.G191D|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.G109D|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.G109D|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.G201D|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.G191D	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	191	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)	p.G191D(1)|p.G109D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TACGTGCCCGGCCTCTACTTC	0.537																																																	2	Substitution - Missense(2)	large_intestine(2)											170	153	159					17																	77043896		2203	4300	6503	SO:0001583	missense	0			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.572G>A	17.37:g.77043896G>A	ENSP00000340864:p.Gly191Asp		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G201D	ENST00000339142.2	37	c.602	CCDS11761.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785463	0.90282	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.96856	-4.15;-4.15;-4.15	4.57	4.57	0.56435	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.64402	D	0.000001	D	0.98868	0.9617	H	0.97540	4.025	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	D	0.99716	1.1008	10	0.87932	D	0	.	17.3389	0.87291	0.0:0.0:1.0:0.0	.	201;201;191	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	D	191;109;201;191;201	ENSP00000340864:G191D;ENSP00000311265:G109D;ENSP00000343230:G201D	ENSP00000311265:G109D	G	+	2	0	C1QTNF1	74555491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.778000	0.99011	2.077000	0.62373	0.561000	0.74099	GGC	C1QTNF1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000173918		0.537	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF1	HGNC	protein_coding	OTTHUMT00000437388.2	-	0	43	0	G	NM_030968		77043896	1	tier1	-	no_errors	ENST00000354124	ensembl	human	known	74_37	missense	5.61	101	6	SNP	1.000	A	A	77043896	G	A	77043896	3	1	131	1	0	0	0	0	1	0	0	0	1969	1203	42	3	582	3	C1QTNF1	17	77043896	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	75433	77043896	4151314	168	33681											
PTPRM	5797	genome.wustl.edu	37	chr18	7955118	7955118	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttctggtttgtctttcaGaaccacccgttcctattgcc	5	16	7	13	1	3	1	1	0	2	1	4	1	4	1	4	1	2	3	4	1	2	6			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:7955118G>C	ENST00000332175.8	+	7	1875		c.e7-1		PTPRM_ENST00000580170.1_Splice_Site|PTPRM_ENST00000400060.4_Splice_Site|PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000444013.1_Splice_Site	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTGTCTTTCAGAACCACCCGT	0.438																																																	0													63	62	62					18																	7955118		2203	4300	6503	SO:0001630	splice_region_variant	0			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.839-1G>C	18.37:g.7955118G>C			A7MBN1|D3DUH8|J3QL11	Splice_Site	SNP	-	e7-1	ENST00000332175.8	37	c.839-1	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661932	0.88251	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRM	7945118	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	.	PTPRM	-	-	ENSG00000173482		0.438	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0	15	0	G		Intron	7955118	1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	splice_site	52.94	8	9	SNP	1.000	C	C	7955118	G	C	7955118	5	2	131	1	0	0	0	0	0	0	1	0	12851	956	33	5	864	5	PTPRM	18	7955118	Splice_Site	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		7955118	70122130	169	33682											
CDH2	1000	genome.wustl.edu	37	chr18	25572711	25572711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccactgattctgtacactgCgttccaggctggtgtatggg	6	12	13	10	1	1	1	0	1	1	0	2	1	2	1	2	3	2	4	2	3	2	4	rs200263846		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:25572711C>A	ENST00000269141.3	-	9	1675	c.1252G>T	c.(1252-1254)Gca>Tca	p.A418S	CDH2_ENST00000399380.3_Missense_Mutation_p.A387S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	418	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						CTGTACACTGCGTTCCAGGCT	0.502																																																	0													229	176	194					18																	25572711		2203	4300	6503	SO:0001583	missense	0			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.1252G>T	18.37:g.25572711C>A	ENSP00000269141:p.Ala418Ser		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.A418S	ENST00000269141.3	37	c.1252	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254867	0.80135	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.55052	0.54;0.54	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	M	0.82056	2.57	0.80722	D	1	D;D	0.71674	0.998;0.984	D;D	0.76071	0.987;0.952	T	0.78502	-0.2179	10	0.87932	D	0	.	19.5228	0.95192	0.0:1.0:0.0:0.0	.	387;418	A8MWK3;P19022	.;CADH2_HUMAN	S	418;387	ENSP00000269141:A418S;ENSP00000382312:A387S	ENSP00000269141:A418S	A	-	1	0	CDH2	23826709	1.000000	0.71417	0.551000	0.28230	0.257000	0.26127	6.052000	0.71080	2.674000	0.91012	0.655000	0.94253	GCA	CDH2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000170558		0.502	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	-	0	44	0	C	NM_001792		25572711	-1	tier1	-	no_errors	ENST00000269141	ensembl	human	known	74_37	missense	54.35	21	25	SNP	1.000	A	A	25572711	C	A	25572711	3	1	131	1	0	0	0	0	1	0	0	0	3112	768	27	2	1500	2	CDH2	18	25572711	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	17617593	25572711	52504537	170	33683											
DSG2	1829	genome.wustl.edu	37	chr18	29099820	29099820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaacatcctcatttagtgCggcaaaagcgcgcctggatc	11	9	9	12	3	1	0	1	0	0	0	3	1	2	1	2	2	3	1	2	2	5	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:29099820C>T	ENST00000261590.8	+	3	345	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	DSG2_ENST00000585206.1_Missense_Mutation_p.R46W	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	46			R -> Q (in ARVD10). {ECO:0000269|PubMed:16773573, ECO:0000269|PubMed:20031617}.		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)	p.R46W(1)		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)			TCATTTAGTGCGGCAAAAGCG	0.428																																																	1	Substitution - Missense(1)	prostate(1)											70	71	70					18																	29099820		1866	4103	5969	SO:0001583	missense	0			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.136C>T	18.37:g.29099820C>T	ENSP00000261590:p.Arg46Trp		Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.R46W	ENST00000261590.8	37	c.136	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	C	7.360	0.624592	0.14193	.	.	ENSG00000046604	ENST00000261590	T	0.79033	-1.23	5.21	2.3	0.28687	.	0.000000	0.35320	U	0.003296	D	0.90414	0.6999	H	0.94183	3.505	0.24316	N	0.995062	D	0.89917	1.0	D	0.91635	0.999	D	0.84583	0.0662	10	0.87932	D	0	.	13.9084	0.63850	0.6506:0.3494:0.0:0.0	.	46	Q14126	DSG2_HUMAN	W	46	ENSP00000261590:R46W	ENSP00000261590:R46W	R	+	1	2	DSG2	27353818	0.595000	0.26857	0.016000	0.15963	0.470000	0.32858	0.971000	0.29396	0.233000	0.21120	0.561000	0.74099	CGG	DSG2	-	NULL	ENSG00000046604		0.428	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1		0	67	0	C	NM_001943		29099820	1			no_errors	ENST00000261590	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.195	T	T	29099820	C	T	29099820	3	4	131	1	0	0	0	0	1	0	0	0	4791	759	27	1	146	1	DSG2	18	29099820	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	3527109	29099820	48977428	171	33684											
ATP8B1	5205	genome.wustl.edu	37	chr18	55371829	55371829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatataaattggctgctctCttaaactgctcaaacagatt	15	13	5	8	0	2	1	1	0	1	1	3	1	2	1	0	1	4	3	0	1	7	5			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:55371829C>A	ENST00000283684.4	-	3	350	c.351G>T	c.(349-351)aaG>aaT	p.K117N	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.K117N|ATP8B1_ENST00000589147.1_5'UTR			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	117					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGGCTGCTCTCTTAAACTGCT	0.313																																																	0													128	133	131					18																	55371829		2202	4300	6502	SO:0001583	missense	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.351G>T	18.37:g.55371829C>A	ENSP00000283684:p.Lys117Asn		Q9BTP8	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.K117N	ENST00000283684.4	37	c.351	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484846	0.63962	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.76578	-1.03;-1.03	6.04	4.21	0.49690	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.094140	0.64402	D	0.000001	T	0.80581	0.4650	L	0.50847	1.595	0.47862	D	0.999538	D	0.76494	0.999	D	0.80764	0.994	T	0.80476	-0.1366	10	0.72032	D	0.01	.	2.5073	0.04648	0.1469:0.529:0.1422:0.1819	.	117	O43520	AT8B1_HUMAN	N	117	ENSP00000283684:K117N;ENSP00000445359:K117N	ENSP00000283684:K117N	K	-	3	2	ATP8B1	53522827	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	0.546000	0.23284	1.574000	0.49760	0.643000	0.83706	AAG	ATP8B1	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000081923		0.313	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	-	0	60	0	C	NM_005603		55371829	-1	tier1	-	no_errors	ENST00000283684	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	55371829	C	A	55371829	3	1	131	1	0	0	0	0	1	0	0	0	1195	912	32	3	3504	3	ATP8B1	18	55371829	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	26272009	55371829	22705419	172	33685											
NEDD4L	23327	genome.wustl.edu	37	chr18	55983218	55983218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gttctcttcctaacagacacGagacgacttcctgggccagg	9	9	10	13	2	1	2	0	0	1	2	4	4	3	2	3	2	1	1	3	2	1	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:55983218G>C	ENST00000400345.3	+	6	585	c.302G>C	c.(301-303)cGa>cCa	p.R101P	NEDD4L_ENST00000382850.4_Missense_Mutation_p.R101P|NEDD4L_ENST00000256832.7_5'UTR|NEDD4L_ENST00000456986.1_5'UTR|NEDD4L_ENST00000435432.2_5'UTR|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R93P|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R93P|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R101P|NEDD4L_ENST00000431212.2_5'UTR|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R101P|NEDD4L_ENST00000456173.2_5'UTR	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	101	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						TAACAGACACGAGACGACTTC	0.473																																																	0													176	183	181					18																	55983218		1967	4150	6117	SO:0001583	missense	0			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.302G>C	18.37:g.55983218G>C	ENSP00000383199:p.Arg101Pro		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom	p.R101P	ENST00000400345.3	37	c.302	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	G	30	5.057112	0.93846	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000357895	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.86	5.86	0.93980	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	3.967790	0.01103	N	0.005429	D	0.84986	0.5594	L	0.43554	1.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0	T	0.69472	-0.5136	10	0.87932	D	0	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	93;93;101;101;101	Q96PU5-6;Q96PU5-7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;NED4L_HUMAN;.	P	101;101;101;101;93	ENSP00000383199:R101P;ENSP00000372301:R101P;ENSP00000348847:R101P;ENSP00000256830:R101P;ENSP00000350569:R93P	ENSP00000256830:R101P	R	+	2	0	NEDD4L	54134198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.653000	0.91088	2.775000	0.95449	0.655000	0.94253	CGA	NEDD4L	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000049759		0.473	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	-	0	90	0	G			55983218	1	tier1	-	no_errors	ENST00000400345	ensembl	human	known	74_37	missense	33.78	49	25	SNP	1.000	C	C	55983218	G	C	55983218	3	2	131	1	0	0	0	0	1	0	0	0	10350	1058	37	5	352	5	NEDD4L	18	55983218	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	611389	55983218	22094030	173	33686											
ZNF532	55205	genome.wustl.edu	37	chr18	56615330	56615330	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agtgttccatgtgcgacactGtgttcaccctgcaaaccttg	8	12	9	12	1	1	0	1	0	0	0	2	1	2	0	3	0	3	3	3	0	1	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:56615330G>T	ENST00000336078.4	+	7	3513	c.2737G>T	c.(2737-2739)Gtg>Ttg	p.V913L	ZNF532_ENST00000591808.1_Missense_Mutation_p.V913L|ZNF532_ENST00000591083.1_Missense_Mutation_p.V913L|ZNF532_ENST00000589288.1_Missense_Mutation_p.V913L|ZNF532_ENST00000591230.1_Missense_Mutation_p.V913L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	913					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GTGCGACACTGTGTTCACCCT	0.403																																																	0													121	120	120					18																	56615330		2203	4300	6503	SO:0001583	missense	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2737G>T	18.37:g.56615330G>T	ENSP00000338217:p.Val913Leu		Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V913L	ENST00000336078.4	37	c.2737	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	G	30	5.050063	0.93740	.	.	ENSG00000074657	ENST00000336078	T	0.28069	1.63	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.51534	0.1680	L	0.51853	1.615	0.58432	D	0.999998	D;P	0.58970	0.984;0.595	D;B	0.70016	0.967;0.192	T	0.43426	-0.9392	10	0.54805	T	0.06	-19.1508	18.7313	0.91736	0.0:0.0:1.0:0.0	.	913;913	B3KXW2;Q9HCE3	.;ZN532_HUMAN	L	913	ENSP00000338217:V913L	ENSP00000338217:V913L	V	+	1	0	ZNF532	54766310	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	2.783000	0.95769	0.655000	0.94253	GTG	ZNF532	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000074657		0.403	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	-	0	32	0	G	NM_018181		56615330	1	tier1	-	no_errors	ENST00000336078	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	56615330	G	T	56615330	3	4	131	1	0	0	0	0	1	0	0	0	18020	1377	48	3	2751	3	ZNF532	18	56615330	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	632112	56615330	21461918	174	33687											
GRIN3B	116444	genome.wustl.edu	37	chr19	1004830	1004830	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcccagcggggcagCtgtgcctggaccctggcacc	5	5	16	15	1	0	0	0	0	0	0	0	1	0	1	4	5	4	4	4	5	0	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:1004830C>T	ENST00000234389.3	+	3	1349	c.1330C>T	c.(1330-1332)Ctg>Ttg	p.L444L	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	444					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)	AGCGGGGCAGCTGTGCCTGGA	0.662																																																	0													50	49	49					19																	1004830		2203	4297	6500	SO:0001819	synonymous_variant	0				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.1330C>T	19.37:g.1004830C>T			Q5EAK7|Q7RTW9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L444	ENST00000234389.3	37	c.1330	CCDS32861.1	19																																																																																			GRIN3B	-	NULL	ENSG00000116032		0.662	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2	-	0	36	0	C			1004830	1	tier1	-	no_errors	ENST00000234389	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T	T	1004830	C	T	1004830	2	4	131	1	0	0	0	0	0	0	0	1	6811	796	28	3		3	GRIN3B	19	1004830	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09		1004830	58124153	175	33688											
DOT1L	84444	genome.wustl.edu	37	chr19	2217008	2217008	+	Silent	SNP	C	C	T	0	0	0	1	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	cagagccccagcgtgcctggCagcatgaagctgagccctca	9	5	12	15	1	1	3	1	2	0	1	1	3	1	3	4	1	6	3	4	1	1	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:2217008C>T	ENST00000398665.3	+	21	2499	c.2463C>T	c.(2461-2463)ggC>ggT	p.G821G	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	821					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)		GCGTGCCTGGCAGCATGAAGC	0.662																																																	0													36	39	38					19																	2217008		2076	4200	6276	SO:0001819	synonymous_variant	0			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.2463C>T	19.37:g.2217008C>T			O60379|Q96JL1	Silent	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.G821	ENST00000398665.3	37	c.2463	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	0.857	-0.736601	0.03111	.	.	ENSG00000104885	ENST00000440640	.	.	.	5.45	0.392	0.16288	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.22933	N	0.998549	.	.	.	.	.	.	T	0.28744	-1.0034	4	.	.	.	-3.5036	8.0639	0.30648	0.0:0.489:0.0:0.511	.	.	.	.	V	608	.	.	A	+	2	0	DOT1L	2168008	0.107000	0.21998	0.034000	0.17996	0.117000	0.20001	0.144000	0.16135	0.282000	0.22254	0.655000	0.94253	GCA	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.662	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1		0	49	0	C	NM_032482		2217008	1			no_errors	ENST00000398665	ensembl	human	known	74_37	silent	5.48	68	4	SNP	0.114	T	T	2217008	C	T	2217008	2	4	131	1	0	0	0	0	0	0	0	1	4723	697	25	3		3	DOT1L	19	2217008	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	1212178	2217008	56911975	176	33689											
TLE6	79816	genome.wustl.edu	37	chr19	2987131	2987131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaatcagccggagacccagCtgttctgggacaaggagcct	11	6	12	12	1	2	1	1	0	1	1	2	4	2	3	3	3	3	2	3	3	2	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:2987131C>T	ENST00000246112.4	+	7	637	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	TLE6_ENST00000452088.1_Silent_p.L23L|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	146					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGACCCAGCTGTTCTGGGA	0.602																																																	0													76	73	74					19																	2987131		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"WD repeat domain containing"	30788	protein-coding gene	gene with protein product		612399	"transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.436C>T	19.37:g.2987131C>T			J3KMZ1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.L146	ENST00000246112.4	37	c.436	CCDS45910.1	19																																																																																			TLE6	-	NULL	ENSG00000104953		0.602	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	HGNC	protein_coding	OTTHUMT00000345996.3		0	43	0	C	NM_024760		2987131	1			no_errors	ENST00000246112	ensembl	human	known	74_37	silent	6.67	70	5	SNP	0.000	T	T	2987131	C	T	2987131	2	4	131	1	0	0	0	0	0	0	0	1	15989	796	28	3		3	TLE6	19	2987131	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	770123	2987131	56141852	177	33690											
UHRF1	29128	genome.wustl.edu	37	chr19	4954401	4954401	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccctggccaaccgagagCgagagaaggagaacagcaag	16	1	14	10	2	0	3	0	0	0	3	0	7	0	3	3	2	5	1	3	2	5	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:4954401C>T	ENST00000592666.1	+	0	2434							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CAACCGAGAGCGAGAGAAGGA	0.642																																																	0													33	40	38					19																	4954401		2065	4187	6252			0			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4954401C>T			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847359	0.71603	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	3.0	1.94	0.25998	.	0.504313	0.19911	N	0.103294	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-1.9334	8.2777	0.31881	0.7931:0.2069:0.0:0.0	.	.	.	.	X	620;235;620;620;633	.	ENSP00000262952:R620X	R	+	1	2	UHRF1	4905401	1.000000	0.71417	0.602000	0.28890	0.036000	0.12997	2.441000	0.44864	0.211000	0.20683	-0.704000	0.03662	CGA	UHRF1	-	-	ENSG00000034063		0.642	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	-	0	50	0	C	NM_001048201		4954401	1	tier1	-	no_errors	ENST00000262952	ensembl	human	known	74_37	rna	37.66	47	29	SNP	1.000	T	T	4954401	C	T	4954401	1	4	131	0	1	0	0	0	0	0	0	0	17016	760	27	1		1	UHRF1	19	4954401	RNA	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	1967270	4954401	54174582	178	33691											
DENND1C	79958	genome.wustl.edu	37	chr19	6475721	6475721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagatccacgctcacctcgGcgagactggcgtgcactcca	8	7	11	15	4	1	2	1	0	0	2	4	3	3	2	3	2	1	3	3	2	1	1	rs78159909		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:6475721G>T	ENST00000381480.2	-	12	933	c.821C>A	c.(820-822)gCc>gAc	p.A274D	DENND1C_ENST00000591030.1_5'Flank|DENND1C_ENST00000543576.1_Missense_Mutation_p.A230D	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	274	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						GCTCACCTCGGCGAGACTGGC	0.687																																																	0													18	20	19					19																	6475721		2117	4206	6323	SO:0001583	missense	0			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.821C>A	19.37:g.6475721G>T	ENSP00000370889:p.Ala274Asp		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A274D	ENST00000381480.2	37	c.821	CCDS45938.1	19	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676405	0.67928	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.11604	2.76;2.76	4.79	2.47	0.30058	DENN (3);	0.794321	0.11660	N	0.541902	T	0.14399	0.0348	L	0.39898	1.24	0.09310	N	0.999999	B	0.34255	0.445	P	0.46940	0.532	T	0.32561	-0.9902	10	0.72032	D	0.01	-6.7597	4.5118	0.11915	0.4302:0.0:0.5698:0.0	.	274	Q8IV53	DEN1C_HUMAN	D	274;230	ENSP00000370889:A274D;ENSP00000437805:A230D	ENSP00000370889:A274D	A	-	2	0	DENND1C	6426721	0.038000	0.19896	0.971000	0.41717	0.955000	0.61496	2.307000	0.43682	1.012000	0.39366	0.555000	0.69702	GCC	DENND1C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000205744		0.687	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1C	HGNC	protein_coding	OTTHUMT00000453332.2		0	31	0	G	NM_024898		6475721	-1			no_errors	ENST00000381480	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.059	T	T	6475721	G	T	6475721	3	4	131	1	0	0	0	0	1	0	0	0	4442	1203	42	3	1632	3	DENND1C	19	6475721	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	1521320	6475721	52653262	179	33692											
XAB2	56949	genome.wustl.edu	37	chr19	7685495	7685495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcggtcaatctccccgaGcttgcactccatgtctgcaa	7	9	10	15	3	3	0	1	0	2	0	5	1	4	0	3	2	3	3	3	2	2	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:7685495G>T	ENST00000358368.4	-	15	2069	c.2032C>A	c.(2032-2034)Ctc>Atc	p.L678I	XAB2_ENST00000534844.1_Missense_Mutation_p.L675I	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	678					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						ATCTCCCCGAGCTTGCACTCC	0.677								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													43	45	44					19																	7685495		2203	4300	6503	SO:0001583	missense	0			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.2032C>A	19.37:g.7685495G>T	ENSP00000351137:p.Leu678Ile		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L678I	ENST00000358368.4	37	c.2032	CCDS32892.1	19	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021446	0.75275	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.04862	3.54;3.54	4.31	4.31	0.51392	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000003	T	0.32763	0.0840	M	0.93898	3.47	0.58432	D	0.999998	D	0.69078	0.997	D	0.66602	0.945	T	0.49399	-0.8944	10	0.72032	D	0.01	-29.0949	15.7251	0.77751	0.0:0.0:1.0:0.0	.	678	Q9HCS7	SYF1_HUMAN	I	678;675	ENSP00000351137:L678I;ENSP00000438225:L675I	ENSP00000351137:L678I	L	-	1	0	XAB2	7591495	1.000000	0.71417	0.988000	0.46212	0.749000	0.42624	6.021000	0.70832	2.225000	0.72522	0.460000	0.39030	CTC	XAB2	-	NULL	ENSG00000076924		0.677	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	-	0	39	0	G	NM_020196		7685495	-1	tier1	-	no_errors	ENST00000358368	ensembl	human	known	74_37	missense	6.06	60	4	SNP	1.000	T	T	7685495	G	T	7685495	3	4	131	1	0	0	0	0	1	0	0	0	17467	971	34	3	555	3	XAB2	19	7685495	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	1209774	7685495	51443488	180	33693											
LDLR	3949	genome.wustl.edu	37	chr19	11222249	11222249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgtgaacctggagggtGgctacaagtgccagtgtgag	8	9	16	8	1	1	2	0	2	1	0	1	3	1	3	2	3	4	1	2	3	3	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:11222249G>T	ENST00000558518.1	+	8	1307	c.1120G>T	c.(1120-1122)Ggc>Tgc	p.G374C	LDLR_ENST00000558013.1_Missense_Mutation_p.G374C|LDLR_ENST00000455727.2_Missense_Mutation_p.G206C|LDLR_ENST00000545707.1_Missense_Mutation_p.G247C|LDLR_ENST00000557933.1_Missense_Mutation_p.G374C|LDLR_ENST00000535915.1_Missense_Mutation_p.G333C	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	374	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	CCTGGAGGGTGGCTACAAGTG	0.632																																					GBM(18;201 575 7820 21545)												1	Unknown(1)	lung(1)	GRCh37	CX061562	LDLR	X							65	62	63					19																	11222249		2203	4300	6503	SO:0001583	missense	0			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.1120G>T	19.37:g.11222249G>T	ENSP00000454071:p.Gly374Cys		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G374C	ENST00000558518.1	37	c.1120	CCDS12254.1	19	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321022	0.41096	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.93488	-3.23;-3.23;-3.23	5.56	-0.791	0.10929	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.160816	0.42548	D	0.000684	D	0.95934	0.8676	M	0.92219	3.285	0.30607	N	0.759905	P;P;P;P;P;P	0.50710	0.798;0.799;0.799;0.478;0.938;0.807	P;P;P;P;D;D	0.63033	0.695;0.811;0.867;0.719;0.91;0.91	D	0.92393	0.5923	10	0.72032	D	0.01	.	5.8769	0.18834	0.5267:0.0:0.3522:0.121	.	206;247;253;333;386;374	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	C	374;247;333;206	ENSP00000437639:G247C;ENSP00000440520:G333C;ENSP00000397829:G206C	ENSP00000252444:G374C	G	+	1	0	LDLR	11083249	0.010000	0.17322	0.712000	0.30502	0.141000	0.21300	0.235000	0.17948	-0.450000	0.07107	-1.130000	0.01982	GGC	LDLR	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000130164		0.632	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLR	HGNC	protein_coding	OTTHUMT00000415973.2		0	37	0	G			11222249	1			no_errors	ENST00000558518	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.949	T	T	11222249	G	T	11222249	3	4	131	1	0	0	0	0	1	0	0	0	8732	1348	47	3	1150	3	LDLR	19	11222249	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	3536754	11222249	47906734	181	33694											
PRKCSH	5589	genome.wustl.edu	37	chr19	11547294	11547294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatcaggtcaacgatgactAttgcgactgcaaagatggct	12	10	11	8	2	2	3	2	2	0	1	2	5	2	3	0	2	3	2	0	2	3	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:11547294A>G	ENST00000589838.1	+	2	164	c.164A>G	c.(163-165)tAt>tGt	p.Y55C	PRKCSH_ENST00000591462.1_Missense_Mutation_p.Y55C|PRKCSH_ENST00000587327.1_Missense_Mutation_p.Y55C|CCDC151_ENST00000591179.1_5'Flank|snoU13_ENST00000459022.1_RNA|PRKCSH_ENST00000252455.2_Missense_Mutation_p.Y55C|CCDC151_ENST00000356392.4_5'Flank|PRKCSH_ENST00000412601.1_Missense_Mutation_p.Y55C|CCDC151_ENST00000545100.1_5'Flank|PRKCSH_ENST00000592741.1_Missense_Mutation_p.Y55C|CCDC151_ENST00000586836.1_5'Flank			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	55					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						AACGATGACTATTGCGACTGC	0.517																																																	0													99	73	82					19																	11547294		2203	4300	6503	SO:0001583	missense	0				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.164A>G	19.37:g.11547294A>G	ENSP00000465461:p.Tyr55Cys		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom	p.Y55C	ENST00000589838.1	37	c.164	CCDS32911.1	19	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523186	0.44866	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.78924	-1.22;-1.22	4.51	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	H	0.94698	3.57	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	0.89543	0.3794	10	0.87932	D	0	-18.8237	9.4433	0.38681	0.8406:0.0:0.0:0.1594	.	55;55;55	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	C	55	ENSP00000252455:Y55C;ENSP00000395616:Y55C	ENSP00000252455:Y55C	Y	+	2	0	PRKCSH	11408294	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	8.381000	0.90152	0.574000	0.29417	-0.496000	0.04628	TAT	PRKCSH	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000130175		0.517	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKCSH	HGNC	protein_coding	OTTHUMT00000458817.1	-	0	32	0	A			11547294	1	tier1	-	no_errors	ENST00000252455	ensembl	human	known	74_37	missense	29.51	43	18	SNP	1.000	G	G	11547294	A	G	11547294	3	3	131	1	0	0	0	0	1	0	0	0	12558	449	16	4	170	4	PRKCSH	19	11547294	Missense_Mutation	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09	325045	11547294	47581689	182	33695											
ZNF700	90592	genome.wustl.edu	37	chr19	12060127	12060127	+	Missense_Mutation	SNP	G	G	A																															gtgggaaagccttcagatctGcctcacagcttcgagtgcac																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:12060127G>A	ENST00000254321.5	+	4	1431	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	ZNF700_ENST00000482090.1_Missense_Mutation_p.A412T|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTTCAGATCTGCCTCACAGCT	0.468																																																	0													91	82	85					19																	12060127		2203	4300	6503	SO:0001583	missense	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1288G>A	19.37:g.12060127G>A	ENSP00000254321:p.Ala430Thr		B9EGU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A430T	ENST00000254321.5	37	c.1288	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	3.511	-0.099732	0.07010	.	.	ENSG00000196757	ENST00000254321	T	0.33654	1.4	0.606	-1.21	0.09524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19725	0.0474	L	0.27053	0.805	0.09310	N	1	P	0.47677	0.899	B	0.43478	0.421	T	0.10590	-1.0623	9	0.22706	T	0.39	.	0.126	0.00069	0.337:0.1646:0.1757:0.3227	.	430	Q9H0M5	ZN700_HUMAN	T	430	ENSP00000254321:A430T	ENSP00000254321:A430T	A	+	1	0	ZNF700	11921127	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-1.301000	0.02749	-2.331000	0.00632	-1.098000	0.02139	GCC	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.468	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2		0	69	0	G	NM_144566		12060127	1			no_errors	ENST00000254321	ensembl	human	known	74_37	missense	7.02	106	8	SNP	0.000	A	A	12060127	G	A	12060127	3	1	131	1	0	0	0	0	1	0	0	0	18152	1319	46	3	1302	3	ZNF700	19	12060127	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	512833	12060127	47068856	183	33696	124	2									
ZNF700	90592	genome.wustl.edu	37	chr19	12060135	12060135	+	Missense_Mutation	SNP	G	G	C																															gccttcagatctgcctcacaGcttcgagtgcacggtgggac																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:12060135G>C	ENST00000254321.5	+	4	1439	c.1296G>C	c.(1294-1296)caG>caC	p.Q432H	ZNF700_ENST00000482090.1_Missense_Mutation_p.Q414H|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTGCCTCACAGCTTCGAGTGC	0.473																																																	0													91	82	85					19																	12060135		2203	4300	6503	SO:0001583	missense	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1296G>C	19.37:g.12060135G>C	ENSP00000254321:p.Gln432His		B9EGU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q432H	ENST00000254321.5	37	c.1296	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	0	-2.630517	0.00115	.	.	ENSG00000196757	ENST00000254321	T	0.36520	1.25	0.864	-1.73	0.08081	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14184	0.0343	N	0.05330	-0.07	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.10941	-1.0608	9	0.23302	T	0.38	.	2.1495	0.03796	0.263:0.4445:0.1438:0.1487	.	432	Q9H0M5	ZN700_HUMAN	H	432	ENSP00000254321:Q432H	ENSP00000254321:Q432H	Q	+	3	2	ZNF700	11921135	0.009000	0.17119	0.000000	0.03702	0.044000	0.14063	-0.232000	0.09055	-2.905000	0.00310	-1.112000	0.02068	CAG	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.473	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2		0	69	0	G	NM_144566		12060135	1			no_errors	ENST00000254321	ensembl	human	known	74_37	missense	6.09	107	7	SNP	0.000	C	C	12060135	G	C	12060135	3	2	131	1	0	0	0	0	1	0	0	0	18152	962	34	5	1310	5	ZNF700	19	12060135	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	8	12060135	47068848	184	33697	124	2									
ZNF700	90592	genome.wustl.edu	37	chr19	12060147	12060147	+	Silent	SNP	C	C	T																															gcctcacagcttcgagtgcaCggtgggactcacactggaga																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:12060147C>T	ENST00000254321.5	+	4	1451	c.1308C>T	c.(1306-1308)caC>caT	p.H436H	ZNF700_ENST00000482090.1_Silent_p.H418H|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTCGAGTGCACGGTGGGACTC	0.483																																																	0													89	81	83					19																	12060147		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1308C>T	19.37:g.12060147C>T			B9EGU4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H436	ENST00000254321.5	37	c.1308	CCDS32915.1	19																																																																																			ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.483	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2		0	69	0	C	NM_144566		12060147	1			no_errors	ENST00000254321	ensembl	human	known	74_37	silent	14.17	103	17	SNP	0.090	T	T	12060147	C	T	12060147	2	4	131	1	0	0	0	0	0	0	0	1	18152	535	19	1		1	ZNF700	19	12060147	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	12	12060147	47068836	185	33698	125	3									
ZNF700	90592	genome.wustl.edu	37	chr19	12060151	12060151	+	Missense_Mutation	SNP	G	G	A																															cacagcttcgagtgcacggtGggactcacactggagagaaa																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:12060151G>A	ENST00000254321.5	+	4	1455	c.1312G>A	c.(1312-1314)Ggg>Agg	p.G438R	ZNF700_ENST00000482090.1_Missense_Mutation_p.G420R|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	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)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AGTGCACGGTGGGACTCACAC	0.483																																																	0													89	81	84					19																	12060151		2203	4300	6503	SO:0001583	missense	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1312G>A	19.37:g.12060151G>A	ENSP00000254321:p.Gly438Arg		B9EGU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G438R	ENST00000254321.5	37	c.1312	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.431883	0.00184	.	.	ENSG00000196757	ENST00000254321	T	0.12569	2.67	0.527	-0.686	0.11324	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01254	0.0041	N	0.00010	-3.05	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.43097	-0.9412	9	0.02654	T	1	.	2.5489	0.04743	0.4667:0.2778:0.2555:0.0	.	438	Q9H0M5	ZN700_HUMAN	R	438	ENSP00000254321:G438R	ENSP00000254321:G438R	G	+	1	0	ZNF700	11921151	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-0.386000	0.07370	-0.352000	0.08237	0.195000	0.17529	GGG	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.483	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	-	0	66	0	G	NM_144566		12060151	1	tier1	-	no_errors	ENST00000254321	ensembl	human	known	74_37	missense	16.13	104	20	SNP	0.174	A	A	12060151	G	A	12060151	3	1	131	1	0	0	0	0	1	0	0	0	18152	1348	47	3	1326	3	ZNF700	19	12060151	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	4	12060151	47068832	186	33699	125	3									
ZNF700	90592	genome.wustl.edu	37	chr19	12060159	12060159	+	Silent	SNP	C	C	T																															cgagtgcacggtgggactcaCactggagagaaaccctatga																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:12060159C>T	ENST00000254321.5	+	4	1463	c.1320C>T	c.(1318-1320)caC>caT	p.H440H	ZNF700_ENST00000482090.1_Silent_p.H422H|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	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)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTGGGACTCACACTGGAGAGA	0.488																																																	0													88	81	83					19																	12060159		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1320C>T	19.37:g.12060159C>T			B9EGU4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H440	ENST00000254321.5	37	c.1320	CCDS32915.1	19																																																																																			ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.488	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	-	0	61	0	C	NM_144566		12060159	1	tier1	-	no_errors	ENST00000254321	ensembl	human	known	74_37	silent	16.80	102	21	SNP	0.994	T	T	12060159	C	T	12060159	2	4	131	1	0	0	0	0	0	0	0	1	18152	477	17	3		3	ZNF700	19	12060159	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	8	12060159	47068824	187	33700	125	3									
RASAL3	64926	genome.wustl.edu	37	chr19	15571872	15571872	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcactggctgccttaccCgaacgttgtggacctggttg	5	12	11	13	2	1	0	1	0	0	0	1	2	1	1	4	3	3	3	4	3	2	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:15571872C>T	ENST00000343625.7	-	5	690	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	202	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)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTGCCTTACCCGAACGTTGTG	0.577																																																	0													45	48	47					19																	15571872		1956	4141	6097	SO:0001630	splice_region_variant	0				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.606+1G>A	19.37:g.15571872C>T			Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP	p.R202Q	ENST00000343625.7	37	c.605	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164692	0.57476	.	.	ENSG00000105122	ENST00000343625	T	0.28454	1.61	3.42	3.42	0.39159	Pleckstrin homology domain (1);	0.381500	0.15103	U	0.280394	T	0.15435	0.0372	N	0.14661	0.345	0.27942	N	0.937494	D	0.53619	0.961	B	0.42771	0.397	T	0.03325	-1.1048	10	0.02654	T	1	.	10.6501	0.45642	0.0:1.0:0.0:0.0	.	202	Q86YV0	RASL3_HUMAN	Q	202	ENSP00000341905:R202Q	ENSP00000341905:R202Q	R	-	2	0	RASAL3	15432872	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	3.239000	0.51360	2.206000	0.71126	0.462000	0.41574	CGG	RASAL3	-	NULL	ENSG00000105122		0.577	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	-	0	59	0	C	NM_022904	Missense_Mutation	15571872	-1	tier1	-	no_errors	ENST00000343625	ensembl	human	known	74_37	missense	44.44	55	44	SNP	1.000	T	T	15571872	C	T	15571872	5	4	131	1	0	0	0	0	0	0	1	0	13110	666	23	1	2486	1	RASAL3	19	15571872	Splice_Site	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	3511713	15571872	43557111	188	33701											
NFKBID	84807	genome.wustl.edu	37	chr19	36387648	36387648	+	Missense_Mutation	SNP	T	T	C	0	1	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	cttgcccttatgctcacgaaTgtcaagacgccggtacacct	9	10	8	14	3	2	1	2	0	0	1	2	2	2	1	3	1	3	2	3	1	4	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:36387648T>C	ENST00000396901.1	-	6	811	c.238A>G	c.(238-240)Att>Gtt	p.I80V	NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000606253.1_Missense_Mutation_p.I80V|NFKBID_ENST00000352614.2_Missense_Mutation_p.I232V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	80					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						tgctcaCGAATGTCAAGACGC	0.637																																																	0													29	35	33					19																	36387648		2055	4209	6264	SO:0001583	missense	0			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"Ankyrin repeat domain containing"	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.238A>G	19.37:g.36387648T>C	ENSP00000380109:p.Ile80Val		Q8NI39|Q9BRG9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I232V	ENST00000396901.1	37	c.694	CCDS42552.1	19	.	.	.	.	.	.	.	.	.	.	T	11.13	1.549064	0.27652	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.36878	1.23;1.23	5.13	2.97	0.34412	Ankyrin repeat-containing domain (4);	0.287374	0.36167	N	0.002745	T	0.16685	0.0401	N	0.11106	0.095	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.14578	0.011;0.003	T	0.07927	-1.0747	10	0.16896	T	0.51	.	7.053	0.25083	0.0:0.2073:0.0:0.7927	.	232;80	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	V	232;80	ENSP00000252985:I232V;ENSP00000380109:I80V	ENSP00000252985:I232V	I	-	1	0	NFKBID	41079488	1.000000	0.71417	0.990000	0.47175	0.731000	0.41821	1.625000	0.37029	0.285000	0.22329	0.459000	0.35465	ATT	NFKBID	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000167604		0.637	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NFKBID	HGNC	protein_coding	OTTHUMT00000452927.3	-	0	51	0	T	NM_032721		36387648	-1	tier1	-	no_errors	ENST00000352614	ensembl	human	known	74_37	missense	32.73	37	18	SNP	0.998	C	C	36387648	T	C	36387648	3	2	131	1	0	0	0	0	1	0	0	0	10418	1464	51	4	731	4	NFKBID	19	36387648	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	20815776	36387648	22741335	189	33702											
CAPNS1	826	genome.wustl.edu	37	chr19	36632054	36632054	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ggcggcggcggcggcggcggCggtggtggaggcggcggtgg	1	3	28	9	9	0	0	0	0	0	0	0	1	0	1	0	14	0	0	0	14	0	0	rs17879825		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000587718.1_Silent_p.G47G|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Silent_p.G47G|CAPNS1_ENST00000588815.1_Silent_p.G47G|CAPNS1_ENST00000588780.1_Silent_p.G47G|AD001527.7_ENST00000604228.1_RNA	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcggtggtggag	0.761																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)												0																																										SO:0001819	synonymous_variant	0			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.141C>T	19.37:g.36632054C>T			A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	pfscan_EF_hand_dom	p.G47	ENST00000246533.3	37	c.141	CCDS12489.1	19																																																																																			CAPNS1	-	NULL	ENSG00000126247		0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	HGNC	protein_coding	OTTHUMT00000457411.2		0	45	0	C			36632054	1			no_errors	ENST00000588780	ensembl	human	known	74_37	silent	7.21	102	8	SNP	0.020	T	T	36632054	C	T	36632054	2	4	131	1	0	0	0	0	0	0	0	1	2640	755	27	1		1	CAPNS1	19	36632054	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	244406	36632054	22496929	190	33703											
ZNF382	84911	genome.wustl.edu	37	chr19	37117694	37117694	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagagaaaccctttcactgtCcttactgtgggaataacttt	12	13	7	9	0	1	1	1	0	0	1	2	3	2	2	2	1	3	0	2	1	5	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:37117694C>G	ENST00000292928.2	+	5	1008	c.895C>G	c.(895-897)Cct>Gct	p.P299A	ZNF382_ENST00000423582.1_Missense_Mutation_p.P250A|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Missense_Mutation_p.P298A|ZNF382_ENST00000435416.1_Missense_Mutation_p.P298A	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	299	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTTTCACTGTCCTTACTGTGG	0.413																																																	0													102	103	102					19																	37117694		2203	4300	6503	SO:0001583	missense	0			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"Zinc fingers, C2H2-type", "-"	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.895C>G	19.37:g.37117694C>G	ENSP00000292928:p.Pro299Ala		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P299A	ENST00000292928.2	37	c.895	CCDS33004.1	19	.	.	.	.	.	.	.	.	.	.	C	3.093	-0.186528	0.06340	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.06933	3.24;3.24;3.24;3.24	4.52	-2.06	0.07298	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.367618	0.20129	N	0.098627	T	0.04998	0.0134	L	0.40543	1.245	0.18873	N	0.999987	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32107	-0.9919	10	0.30854	T	0.27	.	2.0828	0.03639	0.1364:0.472:0.1338:0.2578	.	298;298;299	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	A	250;299;298;298	ENSP00000389722:P250A;ENSP00000292928:P299A;ENSP00000407593:P298A;ENSP00000410113:P298A	ENSP00000292928:P299A	P	+	1	0	ZNF382	41809534	0.000000	0.05858	0.994000	0.49952	0.972000	0.66771	-2.430000	0.01024	-0.012000	0.14223	-0.373000	0.07131	CCT	ZNF382	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000161298		0.413	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	-	0	52	0	C	NM_032825		37117694	1	tier1	-	no_errors	ENST00000292928	ensembl	human	known	74_37	missense	35.37	53	29	SNP	0.149	G	G	37117694	C	G	37117694	3	3	131	1	0	0	0	0	1	0	0	0	17921	855	30	5	905	5	ZNF382	19	37117694	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	485640	37117694	22011289	191	33704											
ZNF829	374899	genome.wustl.edu	37	chr19	37406748	37406748	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcgtgatcctcctgcctCggcctcccaaacacaacctc	8	8	5	20	2	0	1	0	1	0	0	6	1	3	1	7	1	3	0	7	1	2	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:37406748C>T	ENST00000391711.3	-	1	281				ZNF568_ENST00000455427.2_5'Flank|ZNF568_ENST00000415168.1_5'Flank|ZNF829_ENST00000520965.1_Missense_Mutation_p.E37K|ZNF568_ENST00000333987.7_5'Flank|ZNF568_ENST00000427117.1_5'Flank	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829						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(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			cctcctgcctcggcctcccaa	0.567																																																	0																																										SO:0001627	intron_variant	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.83+164G>A	19.37:g.37406748C>T			Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E37K	ENST00000391711.3	37	c.109	CCDS42557.1	19																																																																																			ZNF829	-	NULL	ENSG00000185869		0.567	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	-	0	27	0	C	NM_001037232		37406748	-1	tier1	-	no_errors	ENST00000520965	ensembl	human	known	74_37	missense	15.38	55	10	SNP	0.002	T	T	37406748	C	T	37406748	1	4	131	0	1	0	0	0	0	0	0	0	18230	893	31	1		1	ZNF829	19	37406748	Intron	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	289054	37406748	21722235	192	33705											
ZNF420	147923	genome.wustl.edu	37	chr19	37619827	37619827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgagaaaccatatcaatGtaaggaatgtgggaaggcct	14	9	13	5	0	1	1	1	1	0	1	1	4	1	3	2	4	1	1	2	4	6	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:37619827G>A	ENST00000337995.3	+	5	2149	c.1934G>A	c.(1933-1935)tGt>tAt	p.C645Y	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_Intron|ZNF420_ENST00000304239.7_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	645					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCATATCAATGTAAGGAATGT	0.398																																																	0													78	76	77					19																	37619827		2203	4299	6502	SO:0001583	missense	0			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1934G>A	19.37:g.37619827G>A	ENSP00000338770:p.Cys645Tyr		B2RDY6|Q96ML5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C645Y	ENST00000337995.3	37	c.1934	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620744	0.66787	.	.	ENSG00000197050	ENST00000337995	D	0.85088	-1.94	4.46	4.46	0.54185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93687	0.7983	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94950	0.8099	8	.	.	.	.	16.0256	0.80541	0.0:0.0:1.0:0.0	.	645	Q8TAQ5	ZN420_HUMAN	Y	645	ENSP00000338770:C645Y	.	C	+	2	0	ZNF420	42311667	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	5.965000	0.70387	2.315000	0.78130	0.655000	0.94253	TGT	ZNF420	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197050		0.398	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	-	0	91	0	G	NM_144689		37619827	1	tier1	-	no_errors	ENST00000337995	ensembl	human	known	74_37	missense	27.55	71	27	SNP	0.993	A	A	37619827	G	A	37619827	3	1	131	1	0	0	0	0	1	0	0	0	17945	1377	48	3	1944	3	ZNF420	19	37619827	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	213079	37619827	21509156	193	33706											
ZNF569	148266	genome.wustl.edu	37	chr19	37903687	37903687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcacctgtatgtcctcgtaTatgtatagtaagggatgagc	10	13	10	8	1	1	1	1	1	0	0	3	2	2	2	2	1	1	4	2	1	6	6			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:37903687T>C	ENST00000316950.6	-	6	2430	c.1873A>G	c.(1873-1875)Ata>Gta	p.I625V	ZNF569_ENST00000392149.2_Missense_Mutation_p.I625V|ZNF569_ENST00000392150.2_Missense_Mutation_p.I466V	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	625					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)			TGTCCTCGTATATGTATAGTA	0.403																																																	0													123	119	121					19																	37903687		2203	4300	6503	SO:0001583	missense	0			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.1873A>G	19.37:g.37903687T>C	ENSP00000325018:p.Ile625Val		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I625V	ENST00000316950.6	37	c.1873	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387280	0.42308	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.19394	2.15;2.15	4.09	0.668	0.17912	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36703	N	0.002446	T	0.08133	0.0203	N	0.11000	0.08	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.13407	0.009;0.009	T	0.22487	-1.0215	10	0.72032	D	0.01	.	0.1188	0.00063	0.2205:0.2143:0.2262:0.339	.	466;625	Q17RR6;Q5MCW4	.;ZN569_HUMAN	V	625;281;466	ENSP00000325018:I625V;ENSP00000375993:I466V	ENSP00000325018:I625V	I	-	1	0	ZNF569	42595527	0.000000	0.05858	0.326000	0.25389	0.987000	0.75469	-1.863000	0.01651	0.186000	0.20125	0.460000	0.39030	ATA	ZNF569	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196437		0.403	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	-	0	60	0	T	NM_152484		37903687	-1	tier1	-	no_errors	ENST00000316950	ensembl	human	known	74_37	missense	31.96	66	31	SNP	0.060	C	C	37903687	T	C	37903687	3	2	131	1	0	0	0	0	1	0	0	0	18048	1406	49	4	191	4	ZNF569	19	37903687	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	283860	37903687	21225296	194	33707											
SCAF1	58506	genome.wustl.edu	37	chr19	50158059	50158059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaccccccccacccccaccGggctggctgccacgtctgac	5	4	9	23	3	1	1	0	1	1	0	1	2	1	1	8	2	1	2	8	2	0	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:50158059G>T	ENST00000360565.3	+	9	3674	c.3550G>T	c.(3550-3552)Ggg>Tgg	p.G1184W		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1184					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)		CACCCCCACCGGGCTGGCTGC	0.697																																																	0													20	23	22					19																	50158059		2199	4286	6485	SO:0001583	missense	0			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.3550G>T	19.37:g.50158059G>T	ENSP00000353769:p.Gly1184Trp		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	NULL	p.G1184W	ENST00000360565.3	37	c.3550	CCDS33074.1	19	.	.	.	.	.	.	.	.	.	.	g	17.08	3.298258	0.60195	.	.	ENSG00000126461	ENST00000360565	T	0.34667	1.35	5.22	5.22	0.72569	.	0.092651	0.42682	D	0.000661	T	0.48132	0.1483	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.50600	-0.8809	10	0.66056	D	0.02	-35.342	17.7019	0.88298	0.0:0.0:1.0:0.0	.	1184	Q9H7N4	SFR19_HUMAN	W	1184	ENSP00000353769:G1184W	ENSP00000353769:G1184W	G	+	1	0	SCAF1	54849871	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	3.639000	0.54339	2.716000	0.92895	0.651000	0.88453	GGG	SCAF1	-	NULL	ENSG00000126461		0.697	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1		0	19	0	G	NM_021228		50158059	1			no_errors	ENST00000360565	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.999	T	T	50158059	G	T	50158059	3	4	131	1	0	0	0	0	1	0	0	0	13913	1116	39	2	3580	2	SCAF1	19	50158059	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	12254372	50158059	8970924	195	33708											
NR1H2	7376	genome.wustl.edu	37	chr19	50881825	50881825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaagattcggaaacaGcagcaggagtcacagtcaca	18	4	11	8	1	2	3	2	0	0	3	3	5	2	5	0	2	3	2	0	2	4	1	rs55817866	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:50881825G>A	ENST00000253727.5	+	6	754	c.519G>A	c.(517-519)caG>caA	p.Q173Q	NR1H2_ENST00000599105.1_Silent_p.Q173Q|NR1H2_ENST00000593926.1_Silent_p.Q173Q|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Silent_p.Q173Q|NR1H2_ENST00000411902.2_Silent_p.Q76Q	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	0			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	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S131N	ENST00000253727.5	37	c.392	CCDS42593.1	19																																																																																			NR1H2	-	NULL	ENSG00000131408		0.637	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2		0	21	0	G			50881825	1			no_errors	ENST00000593532	ensembl	human	known	74_37	missense	17.11	62	13	SNP	1.000	A	A	50881825	G	A	50881825	2	1	131	1	0	0	0	0	0	0	0	1	10656	962	34	3		3	NR1H2	19	50881825	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	723766	50881825	8247158	196	33709											
UBOX5	22888	genome.wustl.edu	37	chr20	3102655	3102655	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttctctgaggtgaccagCaggatgctgtctatcacttc	8	12	11	10	0	3	2	1	2	2	0	5	3	3	3	1	3	2	3	1	3	1	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr20:3102655C>A	ENST00000217173.2	-	3	1101	c.630G>T	c.(628-630)ctG>ctT	p.L210L	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Silent_p.L210L	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						AGGTGACCAGCAGGATGCTGT	0.602																																																	0													51	45	47					20																	3102655		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.630G>T	20.37:g.3102655C>A				Silent	SNP	pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING	p.L210	ENST00000217173.2	37	c.630	CCDS13046.1	20																																																																																			UBOX5	-	NULL	ENSG00000185019		0.602	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5	HGNC	protein_coding	OTTHUMT00000077706.2		0	33	0	C	NM_014948		3102655	-1			no_errors	ENST00000217173	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.581	A	A	3102655	C	A	3102655	2	1	131	1	0	0	0	0	0	0	0	1	16943	697	25	3		3	UBOX5	20	3102655	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09		3102655	59922865	197	33710											
CEP250	11190	genome.wustl.edu	37	chr20	34089770	34089770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtcgcctgcggagagcaGagctacagcgaatggaagcc	12	4	15	10	3	0	3	0	0	0	3	1	6	0	4	2	2	6	2	2	2	3	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr20:34089770G>A	ENST00000397527.1	+	29	4717	c.3997G>A	c.(3997-3999)Gag>Aag	p.E1333K	CEP250_ENST00000342580.4_Missense_Mutation_p.E1277K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1333	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCGGAGAGCAGAGCTACAGCG	0.532																																																	0													77	75	76					20																	34089770		2203	4300	6503	SO:0001583	missense	0			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.3997G>A	20.37:g.34089770G>A	ENSP00000380661:p.Glu1333Lys		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.E1333K	ENST00000397527.1	37	c.3997	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960535	0.74016	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.12569	2.68;2.67	5.11	5.11	0.69529	.	0.098794	0.44285	D	0.000466	T	0.36220	0.0959	M	0.75447	2.3	0.40447	D	0.980104	D	0.89917	1.0	D	0.87578	0.998	T	0.04103	-1.0977	10	0.25751	T	0.34	.	15.3893	0.74729	0.0:0.0:1.0:0.0	.	1333	Q9BV73	CP250_HUMAN	K	1333;1277	ENSP00000380661:E1333K;ENSP00000341541:E1277K	ENSP00000341541:E1277K	E	+	1	0	CEP250	33553184	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.056000	0.49923	2.659000	0.90383	0.650000	0.86243	GAG	CEP250	-	NULL	ENSG00000126001		0.532	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	-	0	60	0	G	NM_007186		34089770	1	tier1	-	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	40.15	82	55	SNP	1.000	A	A	34089770	G	A	34089770	3	1	131	1	0	0	0	0	1	0	0	0	3259	943	33	3	4099	3	CEP250	20	34089770	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	30987115	34089770	28935750	198	33711											
PPP1R16B	26051	genome.wustl.edu	37	chr20	37518295	37518295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gtgcaatgaggacggactcaCagccctacaccaggtaaggc	12	5	12	12	1	1	1	1	1	0	0	1	3	1	3	2	4	3	2	2	4	3	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr20:37518295C>A	ENST00000299824.1	+	3	497	c.308C>A	c.(307-309)aCa>aAa	p.T103K	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.T103K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	103					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)				GACGGACTCACAGCCCTACAC	0.577																																																	0													170	159	163					20																	37518295		2203	4300	6503	SO:0001583	missense	0			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.308C>A	20.37:g.37518295C>A	ENSP00000299824:p.Thr103Lys		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T103K	ENST00000299824.1	37	c.308	CCDS13309.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.936865|4.936865	0.92458|0.92458	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.63255	.|-0.03;-0.03	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Ankyrin repeat-containing domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83792|0.83792	0.5331|0.5331	M|M	0.91510|0.91510	3.215|3.215	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.87710|0.87710	0.2566|0.2566	5|10	.|0.87932	.|D	.|0	.|.	18.2755|18.2755	0.90081|0.90081	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|103;103	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	K|K	46|103	.|ENSP00000299824:T103K;ENSP00000362428:T103K	.|ENSP00000299824:T103K	Q|T	+|+	1|2	0|0	PPP1R16B|PPP1R16B	36951709|36951709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.954000|6.954000	0.76001|0.76001	2.550000|2.550000	0.86006|0.86006	0.655000|0.655000	0.94253|0.94253	CAG|ACA	PPP1R16B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000101445		0.577	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2	-	0	53	0	C	NM_015568		37518295	1	tier1	-	no_errors	ENST00000299824	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	37518295	C	A	37518295	3	1	131	1	0	0	0	0	1	0	0	0	12408	478	17	3	314	3	PPP1R16B	20	37518295	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	3428525	37518295	25507225	199	33712											
ADNP	23394	genome.wustl.edu	37	chr20	49509654	49509654	+	Missense_Mutation	SNP	T	T	A	0	1	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	ctcttcatcaatgtgaaccaTccgcatgtgtgcggccatct	8	12	8	13	2	4	1	2	1	2	0	5	1	5	1	3	1	2	1	3	1	2	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr20:49509654T>A	ENST00000396029.3	-	5	2164	c.1597A>T	c.(1597-1599)Atg>Ttg	p.M533L	ADNP_ENST00000396032.3_Missense_Mutation_p.M533L|ADNP_ENST00000349014.3_Missense_Mutation_p.M533L|ADNP_ENST00000371602.4_Missense_Mutation_p.M533L	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	533					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						ATGTGAACCATCCGCATGTGT	0.423																																																	0													145	137	140					20																	49509654		2203	4300	6503	SO:0001583	missense	0			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.1597A>T	20.37:g.49509654T>A	ENSP00000379346:p.Met533Leu		E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.M533L	ENST00000396029.3	37	c.1597	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	T	4.185	0.033031	0.08101	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.86	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.125717	0.85682	D	0.000000	T	0.29850	0.0746	N	0.14661	0.345	0.31719	N	0.63852	B	0.02656	0.0	B	0.01281	0.0	T	0.22906	-1.0203	9	0.24483	T	0.36	-6.2565	12.7758	0.57445	0.0:0.0:0.1366:0.8634	.	533	Q9H2P0	ADNP_HUMAN	L	533	.	ENSP00000342905:M533L	M	-	1	0	ADNP	48943061	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.464000	0.35288	2.244000	0.73946	0.528000	0.53228	ATG	ADNP	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000101126		0.423	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	-	0	27	0	T	NM_181442		49509654	-1	tier1	-	no_errors	ENST00000349014	ensembl	human	known	74_37	missense	32.84	43	22	SNP	0.995	A	A	49509654	T	A	49509654	3	1	131	1	0	0	0	0	1	0	0	0	323	1435	50	5	1715	5	ADNP	20	49509654	Missense_Mutation	SNP	T	TCGA-LN-A8I1-01A-11D-A36J-09	11991359	49509654	13515866	200	33713											
LAMA5	3911	genome.wustl.edu	37	chr20	60894802	60894802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcgcatggcccagtgtgGcctcggtgccggccagcaat	5	9	13	14	3	1	0	0	0	1	0	3	0	1	0	4	4	2	2	4	4	1	1	rs555299125		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr20:60894802G>T	ENST00000252999.3	-	51	6875	c.6809C>A	c.(6808-6810)gCc>gAc	p.A2270D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2270	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCCCAGTGTGGCCTCGGTGCC	0.706																																																	0													13	13	13					20																	60894802		2103	4180	6283	SO:0001583	missense	0			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.6809C>A	20.37:g.60894802G>T	ENSP00000252999:p.Ala2270Asp		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.A2270D	ENST00000252999.3	37	c.6809	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	-	8.083	0.772822	0.16051	.	.	ENSG00000130702	ENST00000252999	T	0.09445	2.98	4.46	-2.17	0.07059	Laminin I (1);	0.984955	0.08300	U	0.967115	T	0.04952	0.0133	N	0.19112	0.55	0.51767	D	0.999938	B	0.06786	0.001	B	0.10450	0.005	T	0.45963	-0.9225	10	0.14656	T	0.56	.	1.2867	0.02052	0.1844:0.1393:0.393:0.2833	.	2270	O15230	LAMA5_HUMAN	D	2270	ENSP00000252999:A2270D	ENSP00000252999:A2270D	A	-	2	0	LAMA5	60328197	0.966000	0.33281	0.024000	0.17045	0.011000	0.07611	0.825000	0.27393	-0.175000	0.10725	-0.290000	0.09829	GCC	LAMA5	-	pfam_Laminin_I	ENSG00000130702		0.706	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2		0	14	0	G	NM_005560		60894802	-1			no_errors	ENST00000252999	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.792	T	T	60894802	G	T	60894802	3	4	131	1	0	0	0	0	1	0	0	0	8637	1203	42	3	4398	3	LAMA5	20	60894802	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	11385148	60894802	2130718	201	33714											
KRTAP13-3	337960	genome.wustl.edu	37	chr21	31797973	31797973	+	Silent	SNP	G	G	A	0	0	1	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	aggcaagaattgcagagcatGtgagtcctggggtagtagca	12	8	15	6	0	0	3	0	1	0	2	1	3	1	3	1	3	3	6	1	3	4	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr21:31797973G>A	ENST00000390690.2	-	1	313	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	86	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						TGCAGAGCATGTGAGTCCTGG	0.567																																																	0													64	72	69					21																	31797973		2200	4300	6500	SO:0001819	synonymous_variant	0			AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"Keratin associated proteins"	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.258C>T	21.37:g.31797973G>A			Q3LI78	Silent	SNP	pfam_KRTAP_PMG	p.H86	ENST00000390690.2	37	c.258	CCDS13591.1	21																																																																																			KRTAP13-3	-	pfam_KRTAP_PMG	ENSG00000240432		0.567	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-3	HGNC	protein_coding	OTTHUMT00000128228.2	-	0	56	0	G			31797973	-1	tier1	-	no_errors	ENST00000390690	ensembl	human	known	74_37	silent	32.79	41	20	SNP	0.000	A	A	31797973	G	A	31797973	2	1	131	1	0	0	0	0	0	0	0	1	8551	1368	48	3		3	KRTAP13-3	21	31797973	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		31797973	16331922	202	33715											
NDUFV3	4731	genome.wustl.edu	37	chr21	44329103	44329103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attcaggatgcctcagccctCctcaggccgggagtcacctc	7	8	10	16	1	4	0	4	0	0	0	6	2	5	2	5	3	2	0	5	3	0	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr21:44329103C>A	ENST00000340344.4	+	3	365	c.299C>A	c.(298-300)tCc>tAc	p.S100Y	NDUFV3_ENST00000354250.2_Missense_Mutation_p.S465Y|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	100					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		CCTCAGCCCTCCTCAGGCCGG	0.512																																																	0													207	187	194					21																	44329103		2203	4300	6503	SO:0001583	missense	0				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.299C>A	21.37:g.44329103C>A	ENSP00000342895:p.Ser100Tyr		A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	NULL	p.S465Y	ENST00000340344.4	37	c.1394	CCDS33573.1	21	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054096	0.75960	.	.	ENSG00000160194	ENST00000354250;ENST00000340344;ENST00000398198	.	.	.	6.01	5.13	0.70059	.	0.129968	0.52532	D	0.000069	T	0.78541	0.4299	M	0.76002	2.32	0.51012	D	0.999905	D;D	0.89917	0.983;1.0	P;D	0.72982	0.864;0.979	T	0.81699	-0.0814	9	0.87932	D	0	-9.1819	15.3969	0.74801	0.0:0.9334:0.0:0.0666	.	100;465	P56181;P56181-2	NDUV3_HUMAN;.	Y	465;100;104	.	ENSP00000342895:S100Y	S	+	2	0	NDUFV3	43202172	1.000000	0.71417	0.875000	0.34327	0.581000	0.36288	6.709000	0.74665	1.572000	0.49736	0.644000	0.83932	TCC	NDUFV3	-	NULL	ENSG00000160194		0.512	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFV3	HGNC	protein_coding	OTTHUMT00000195448.2	-	0	29	0	C			44329103	1	tier1	-	no_errors	ENST00000354250	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.998	A	A	44329103	C	A	44329103	3	1	131	1	0	0	0	0	1	0	0	0	10340	855	30	3	1408	3	NDUFV3	21	44329103	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	12531130	44329103	3800792	203	33716											
MCM3AP	8888	genome.wustl.edu	37	chr21	47666671	47666671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	caaggccgacagccagtacaCgtcctcctctgccatgtcct	8	8	8	17	2	1	0	0	0	1	0	4	1	4	0	6	1	3	1	6	1	2	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr21:47666671C>T	ENST00000397708.1	-	22	4674	c.4420G>A	c.(4420-4422)Gtg>Atg	p.V1474M	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1474M|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1474					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)					AGCCAGTACACGTCCTCCTCT	0.597																																																	0													172	169	170					21																	47666671		2203	4300	6503	SO:0001583	missense	0			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.4420G>A	21.37:g.47666671C>T	ENSP00000380820:p.Val1474Met		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.V1474M	ENST00000397708.1	37	c.4420	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585908	0.28268	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03982	3.74;3.74	5.68	0.0554	0.14315	.	0.418140	0.25738	N	0.028640	T	0.06462	0.0166	L	0.60455	1.87	0.09310	N	1	D	0.60160	0.987	P	0.45276	0.475	T	0.25152	-1.0140	10	0.66056	D	0.02	-3.8845	7.7371	0.28821	0.0:0.5401:0.1145:0.3454	.	1474	O60318	MCM3A_HUMAN	M	1474	ENSP00000380820:V1474M;ENSP00000291688:V1474M	ENSP00000291688:V1474M	V	-	1	0	MCM3AP	46491099	0.254000	0.23992	0.078000	0.20375	0.790000	0.44656	1.275000	0.33144	0.068000	0.16574	-0.142000	0.14014	GTG	MCM3AP	-	NULL	ENSG00000160294		0.597	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	-	0	34	0	C	NM_003906		47666671	-1	tier1	-	no_errors	ENST00000291688	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.002	T	T	47666671	C	T	47666671	3	4	131	1	0	0	0	0	1	0	0	0	9426	536	19	1	1554	1	MCM3AP	21	47666671	Missense_Mutation	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	3337568	47666671	463224	204	33717											
TUBA8	51807	genome.wustl.edu	37	chr22	18613614	18613614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctgtgtccctcaggtggGcatcaactaccagcccccga	7	10	9	15	1	3	0	2	0	1	0	4	1	4	0	4	2	3	1	4	2	2	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:18613614G>A	ENST00000330423.3	+	5	1134	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D	TUBA8_ENST00000316027.6_Missense_Mutation_p.G288D	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	354					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						CCTCAGGTGGGCATCAACTAC	0.607																																																	0													35	38	37					22																	18613614		2203	4298	6501	SO:0001583	missense	0			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.1061G>A	22.37:g.18613614G>A	ENSP00000333326:p.Gly354Asp		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.G354D	ENST00000330423.3	37	c.1061	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	20.4	3.988025	0.74589	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.84873	-1.91;-1.91;-1.91	5.29	5.29	0.74685	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96380	0.8819	H	0.99650	4.68	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	0.98366	1.0551	10	0.87932	D	0	.	18.2967	0.90148	0.0:0.0:1.0:0.0	.	288;378;354	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	D	288;354;378	ENSP00000318575:G288D;ENSP00000333326:G354D;ENSP00000412646:G378D	ENSP00000318575:G288D	G	+	2	0	TUBA8	16993614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.625000	0.88918	0.655000	0.94253	GGC	TUBA8	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin	ENSG00000183785		0.607	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	-	0	55	0	G	NM_018943		18613614	1	tier1	-	no_errors	ENST00000330423	ensembl	human	known	74_37	missense	5.62	84	5	SNP	1.000	A	A	18613614	G	A	18613614	3	1	131	1	0	0	0	0	1	0	0	0	16799	1203	42	3	1079	3	TUBA8	22	18613614	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09		18613614	32690952	205	33718											
MED15	51586	genome.wustl.edu	37	chr22	20929472	20929472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctaccaccgctgtgtccGccatcccgtcaagctccatc	6	8	7	20	4	1	0	1	0	0	0	5	0	4	0	7	0	2	2	7	0	2	1			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:20929472G>A	ENST00000263205.7	+	9	1294	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	MED15_ENST00000382974.2_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000542773.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	409	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CGCTGTGTCCGCCATCCCGTC	0.622																																																	0													97	83	88					22																	20929472		2203	4300	6503	SO:0001583	missense	0			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1225G>A	22.37:g.20929472G>A	ENSP00000263205:p.Ala409Thr		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	pfam_Mediator_Med15_met	p.A409T	ENST00000263205.7	37	c.1225	CCDS33602.1	22	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303636	0.40795	.	.	ENSG00000099917	ENST00000263205;ENST00000542312	.	.	.	5.07	0.676	0.17958	Mediator complex, subunit Med15, metazoa (1);	0.517876	0.21015	N	0.081610	T	0.38692	0.1050	L	0.34521	1.04	0.54753	D	0.999983	B;B	0.18863	0.031;0.024	B;B	0.13407	0.009;0.006	T	0.10753	-1.0616	9	0.13853	T	0.58	.	8.6722	0.34156	0.3286:0.0:0.6714:0.0	.	355;409	B4DGD6;Q96RN5	.;MED15_HUMAN	T	409;355	.	ENSP00000263205:A409T	A	+	1	0	MED15	19259472	0.964000	0.33143	0.074000	0.20217	0.659000	0.38960	1.682000	0.37628	0.565000	0.29255	-0.918000	0.02743	GCC	MED15	-	pfam_Mediator_Med15_met	ENSG00000099917		0.622	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2		0	40	0	G	NM_015889		20929472	1			no_errors	ENST00000263205	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.352	A	A	20929472	G	A	20929472	3	1	131	1	0	0	0	0	1	0	0	0	9471	1087	38	1	1259	1	MED15	22	20929472	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	2315858	20929472	30375094	206	33719											
MAPK1	5594	genome.wustl.edu	37	chr22	22123604	22123604	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgaatggtgcttcggcGatgggctttaaaagaaaaca	14	10	11	6	2	0	2	0	1	0	1	1	3	0	2	0	3	3	2	0	3	6	4			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:22123604G>T	ENST00000215832.6	-	8	1160	c.972C>A	c.(970-972)atC>atA	p.I324I	MAPK1_ENST00000491588.1_5'UTR|MAPK1_ENST00000398822.3_Silent_p.I324I|MAPK1_ENST00000544786.1_Silent_p.I280I	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	324					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|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 protein stability (GO:0031647)|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 estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|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)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GTGCTTCGGCGATGGGCTTTA	0.378																																																	0													71	69	70					22																	22123604		2203	4300	6503	SO:0001819	synonymous_variant	0			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.972C>A	22.37:g.22123604G>T			A8CZ64	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.I324	ENST00000215832.6	37	c.972	CCDS13795.1	22																																																																																			MAPK1	-	superfamily_Kinase-like_dom	ENSG00000100030		0.378	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	-	0	89	0	G			22123604	-1	tier1	-	no_errors	ENST00000215832	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.015	T	T	22123604	G	T	22123604	2	4	131	1	0	0	0	0	0	0	0	1	9309	1048	37	2		2	MAPK1	22	22123604	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	1194132	22123604	29180962	207	33720											
CARD10	29775	genome.wustl.edu	37	chr22	37892551	37892551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgccccctccagaccaGcagcttccaccctttgctgg	6	7	9	19	1	0	1	0	0	0	1	2	1	2	1	6	2	3	4	6	2	0	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:37892551G>T	ENST00000403299.1	-	14	2180	c.1964C>A	c.(1963-1965)gCt>gAt	p.A655D	CARD10_ENST00000406271.3_Missense_Mutation_p.A369D|CARD10_ENST00000251973.5_Missense_Mutation_p.A655D			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	655					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)					CTCCAGACCAGCAGCTTCCAC	0.617																																																	0													45	40	42					22																	37892551		2203	4300	6503	SO:0001583	missense	0			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.1964C>A	22.37:g.37892551G>T	ENSP00000384570:p.Ala655Asp		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.A655D	ENST00000403299.1	37	c.1964	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	G	0.553	-0.848722	0.02651	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.40756	1.02;2.72;1.02;1.5	4.89	2.73	0.32206	.	0.730148	0.13700	N	0.368894	T	0.24736	0.0600	N	0.22421	0.69	0.09310	N	1	B;B	0.32071	0.201;0.355	B;B	0.26770	0.036;0.073	T	0.11567	-1.0582	10	0.21540	T	0.41	-2.1614	9.0836	0.36567	0.0:0.2996:0.5461:0.1543	.	655;369	Q9BWT7;Q8NC81	CAR10_HUMAN;.	D	655;369;655;296;127	ENSP00000384570:A655D;ENSP00000385799:A369D;ENSP00000251973:A655D;ENSP00000416239:A296D	ENSP00000251973:A655D	A	-	2	0	CARD10	36222497	0.865000	0.29922	0.568000	0.28447	0.240000	0.25518	3.266000	0.51569	0.692000	0.31613	-0.175000	0.13238	GCT	CARD10	-	NULL	ENSG00000100065		0.617	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1	-	0	52	0	G	NM_014550		37892551	-1	tier1	-	no_errors	ENST00000251973	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.154	T	T	37892551	G	T	37892551	3	4	131	1	0	0	0	0	1	0	0	0	2651	971	34	3	1166	3	CARD10	22	37892551	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	15768947	37892551	13412015	208	33721											
PDGFB	5155	genome.wustl.edu	37	chr22	39621804	39621806	+	In_Frame_Del	DEL	CGG	CGG	-																															ggtgcttgcccttggggggcCggcggactcgcaccgtccga																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	CGG	CGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:39621804_39621806delCGG	ENST00000331163.6	-	6	1435_1437	c.648_650delCCG	c.(646-651)cgccgg>cgg	p.216_217RR>R	PDGFB_ENST00000381551.4_In_Frame_Del_p.201_202RR>R	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	216					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|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 fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					CTTGGGGGGCCGGCGGACTCGCA	0.591			T	COL1A1	DFSP																																			Dom	yes		22	22q12.3-q13.1	5155	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)		M	0																																										SO:0001651	inframe_deletion	0				CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"oncogene SIS", "becaplermin"	190040	"platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.648_650delCCG	22.37:g.39621807_39621809delCGG	ENSP00000330382:p.Arg217del		G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	In_Frame_Del	DEL	pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.R217in_frame_del	ENST00000331163.6	37	c.650_648	CCDS13987.1	22																																																																																			PDGFB	-	NULL	ENSG00000100311		0.591	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFB	HGNC	protein_coding	OTTHUMT00000321043.1		0	51	0	CGG	NM_002608		39621806	-1	tier1		no_errors	ENST00000331163	ensembl	human	known	74_37	in_frame_del	15.91	37	7	DEL	1.000:1.000:1.000	-	-	39621806	CGG	-	39621804	7	5	131	1	0	1	0	1	0	0	0	0	11697	652	23	0	79	0	PDGFB	22	39621804	In_Frame_Del	DEL	CGG	TCGA-LN-A8I1-01A-11D-A36J-09	1729253	39621804	11682762	209	33722											
SREBF2	6721	genome.wustl.edu	37	chr22	42274003	42274004	+	Frame_Shift_Del	DEL	GT	GT	-																															tctcttatggctggtaaatgGtgtgattgtcctgagcgtct																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:42274003_42274004delGT	ENST00000361204.4	+	9	1803_1804	c.1637_1638delGT	c.(1636-1638)ggtfs	p.G546fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	546					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						CTGGTAAATGGTGTGATTGTCC	0.554																																																	0																																										SO:0001589	frameshift_variant	0			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.1637_1638delGT	22.37:g.42274005_42274006delGT	ENSP00000354476:p.Gly546fs		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.V547fs	ENST00000361204.4	37	c.1637_1638	CCDS14023.1	22																																																																																			SREBF2	-	NULL	ENSG00000198911		0.554	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1		0	51	0	GT	NM_004599		42274004	1	tier1		no_errors	ENST00000361204	ensembl	human	known	74_37	frame_shift_del	16.92	54	11	DEL	1.000:0.017	-	-	42274004	GT	-	42274003	7	5	131	1	0	1	0	1	0	0	0	0	15189	1261	44	0	1671	0	SREBF2	22	42274003	Frame_Shift_Del	DEL	GT	TCGA-LN-A8I1-01A-11D-A36J-09	2652199	42274003	9030563	210	33723											
CCDC22	28952	genome.wustl.edu	37	chrX	49106138	49106138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagctcatccagaccatCgaggacacaggcaccatcat	13	5	8	15	1	2	1	2	0	0	1	4	3	3	2	4	2	2	2	4	2	0	0			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:49106138C>T	ENST00000376227.3	+	16	1892	c.1722C>T	c.(1720-1722)atC>atT	p.I574I		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	574										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						TCCAGACCATCGAGGACACAG	0.662																																																	0													47	38	41					X																	49106138		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1722C>T	X.37:g.49106138C>T			A8K7G1	Silent	SNP	pfam_DUF812	p.I574	ENST00000376227.3	37	c.1722	CCDS14322.1	X																																																																																			CCDC22	-	pfam_DUF812	ENSG00000101997		0.662	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	HGNC	protein_coding	OTTHUMT00000060822.1	-	0	110	0	C	NM_014008		49106138	1	tier1	-	no_errors	ENST00000376227	ensembl	human	known	74_37	silent	6.98	80	6	SNP	0.600	T	T	49106138	C	T	49106138	2	4	131	1	0	0	0	0	0	0	0	1	2804	874	31	1		1	CCDC22	23	49106138	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09		49106138	106164422	211	33724											
ZNF711	7552	genome.wustl.edu	37	chrX	84526289	84526289	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagggagcttcaacgccatCtggatttgtttcaaggacat	11	11	11	8	1	3	1	2	0	1	1	3	4	3	4	1	3	2	2	1	3	2	3			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:84526289C>T	ENST00000373165.3	+	9	2047	c.1741C>T	c.(1741-1743)Ctg>Ttg	p.L581L	ZNF711_ENST00000360700.4_Silent_p.L627L|ZNF711_ENST00000276123.3_Silent_p.L581L|ZNF711_ENST00000542798.1_Silent_p.L423L|ZNF711_ENST00000395402.1_Silent_p.L589L	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	581					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TCAACGCCATCTGGATTTGTT	0.418																																																	0													77	62	67					X																	84526289		2202	4297	6499	SO:0001819	synonymous_variant	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1741C>T	X.37:g.84526289C>T			B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L589	ENST00000373165.3	37	c.1765	CCDS35344.1	X																																																																																			ZNF711	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000147180		0.418	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	-	0	64	0	C	NM_021998		84526289	1	tier1	-	no_errors	ENST00000395402	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.953	T	T	84526289	C	T	84526289	2	4	131	1	0	0	0	0	0	0	0	1	18164	912	32	3		3	ZNF711	23	84526289	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	35420151	84526289	70744271	212	33725											
TGIF2LX	90316	genome.wustl.edu	37	chrX	89177504	89177504	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcagagcaccgaggcGtctgtgccggccaagtcagg	8	5	14	14	3	2	1	1	0	1	1	2	2	2	1	4	3	3	2	4	3	1	0	rs371679488		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:89177504G>A	ENST00000561129.2	+	1	550	c.420G>A	c.(418-420)gcG>gcA	p.A140A	TGIF2LX_ENST00000283891.5_Silent_p.A140A			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A140A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCACCGAGGCGTCTGTGCCGG	0.582																																																	1	Substitution - coding silent(1)	endometrium(1)						G		0,3835		0,0,0,1632,571	54	53	53		420	-3.1	0	X		53	1,6727		0,0,1,2428,1871	no	coding-synonymous	TGIF2LX	NM_138960.3		0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095		140/242	89177504	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.420G>A	X.37:g.89177504G>A			Q5JRM9|Q8TD48	Silent	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A140	ENST00000561129.2	37	c.420	CCDS14459.1	X																																																																																			TGIF2LX	-	NULL	ENSG00000153779		0.582	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	-	0	45	0	G	NM_138960		89177504	1	tier1	-	no_errors	ENST00000283891	ensembl	human	known	74_37	silent	54.17	11	13	SNP	0.000	A	A	89177504	G	A	89177504	2	1	131	1	0	0	0	0	0	0	0	1	15874	1132	40	1		1	TGIF2LX	23	89177504	Silent	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	4651215	89177504	66093056	213	33726											
ZBTB33	10009	genome.wustl.edu	37	chrX	119388906	119388906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatgaaattcatcacacaGgggagcgaaggtatcagtgt	14	8	12	7	1	3	1	3	1	0	0	3	3	3	2	0	3	2	2	0	3	3	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:119388906G>T	ENST00000326624.2	+	2	1864	c.1636G>T	c.(1636-1638)Ggg>Tgg	p.G546W	ZBTB33_ENST00000557385.1_Missense_Mutation_p.G546W	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	546	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						TCATCACACAGGGGAGCGAAG	0.403																																																	0													137	123	128					X																	119388906		2203	4300	6503	SO:0001583	missense	0			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.1636G>T	X.37:g.119388906G>T	ENSP00000314153:p.Gly546Trp		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G546W	ENST00000326624.2	37	c.1636	CCDS14596.1	X	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185197	0.57909	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.26810	1.71;1.71	5.55	5.55	0.83447	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74393	-0.3680	10	0.87932	D	0	-9.0907	17.3434	0.87303	0.0:0.0:1.0:0.0	.	546	Q86T24	KAISO_HUMAN	W	546	ENSP00000314153:G546W;ENSP00000450969:G546W	ENSP00000314153:G546W	G	+	1	0	ZBTB33;AC002086.1	119272934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.308000	0.77769	0.513000	0.50165	GGG	ZBTB33	-	pfscan_Znf_C2H2	ENSG00000177485		0.403	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	HGNC	protein_coding	OTTHUMT00000058085.2	-	0	59	0	G	NM_006777		119388906	1	tier1	-	no_errors	ENST00000326624	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	119388906	G	T	119388906	3	4	131	1	0	0	0	0	1	0	0	0	17584	1000	35	3	1638	3	ZBTB33	23	119388906	Missense_Mutation	SNP	G	TCGA-LN-A8I1-01A-11D-A36J-09	30211402	119388906	35881654	214	33727											
MAGEC1	9947	genome.wustl.edu	37	chrX	140994968	140994968	+	Missense_Mutation	SNP	A	A	T	1	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	ggaggactccctgtctcctcActactttcctcagagccctc	6	11	7	17	0	3	1	2	0	1	1	7	3	5	3	4	2	2	0	4	2	1	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:140994968A>T	ENST00000285879.4	+	4	2064	c.1778A>T	c.(1777-1779)cAc>cTc	p.H593L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	593										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)					CTGTCTCCTCACTACTTTCCT	0.572										HNSCC(15;0.026)																																							0													229	244	239					X																	140994968		2203	4300	6503	SO:0001583	missense	0			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.1778A>T	X.37:g.140994968A>T	ENSP00000285879:p.His593Leu		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.H593L	ENST00000285879.4	37	c.1778	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	a	0.113	-1.136291	0.01742	.	.	ENSG00000155495	ENST00000285879	T	0.02067	4.47	0.118	-0.237	0.13061	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.47394	-0.9121	9	0.02654	T	1	.	3.3057	0.06998	0.3623:0.0:0.0:0.6377	.	593	O60732	MAGC1_HUMAN	L	593	ENSP00000285879:H593L	ENSP00000285879:H593L	H	+	2	0	MAGEC1	140822634	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.617000	0.05584	-1.408000	0.02040	-1.471000	0.01009	CAC	MAGEC1	-	NULL	ENSG00000155495		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0	74	0	A	NM_005462		140994968	1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	26.51	61	22	SNP	0.015	T	T	140994968	A	T	140994968	3	4	131	1	0	0	0	0	1	0	0	0	9218	159	6	5	1784	5	MAGEC1	23	140994968	Missense_Mutation	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09	21606062	140994968	14275592	215	33728			2	36		4	3	39	N	CCT_C_A	3.358918e-08
MAGEC1	9947	genome.wustl.edu	37	chrX	140994984	140994984	+	Silent	SNP	C	C	T																															cctcactactttcctcagagCcctcctcagggggaggactc																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:140994984C>T	ENST00000285879.4	+	4	2080	c.1794C>T	c.(1792-1794)agC>agT	p.S598S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	598										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)					TTCCTCAGAGCCCTCCTCAGG	0.582										HNSCC(15;0.026)																																							0													217	231	226					X																	140994984		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1794C>T	X.37:g.140994984C>T			A0PK03|O75451|Q8TCV4	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.S598	ENST00000285879.4	37	c.1794	CCDS35417.1	X																																																																																			MAGEC1	-	NULL	ENSG00000155495		0.582	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0	82	0	C	NM_005462		140994984	1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	silent	17.07	68	14	SNP	0.967	T	T	140994984	C	T	140994984	2	4	131	1	0	0	0	0	0	0	0	1	9218	738	26	3		3	MAGEC1	23	140994984	Silent	SNP	C	TCGA-LN-A8I1-01A-11D-A36J-09	16	140994984	14275576	216	33729	126	2	2	36		4	3	39	N	CCT_C_A	3.358918e-08
MAGEC1	9947	genome.wustl.edu	37	chrX	140994985	140994987	+	In_Frame_Del	DEL	CCT	CCT	-																															ctcactactttcctcagagcCctcctcagggggaggactcc																										TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:140994985_140994987delCCT	ENST00000285879.4	+	4	2081_2083	c.1795_1797delCCT	c.(1795-1797)cctdel	p.P600del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	600								p.P599T(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)					TCCTCAGAGCCCTCCTCAGGGGG	0.581										HNSCC(15;0.026)																																							1	Substitution - Missense(1)	lung(1)								3,3706		0,1,2,1585,535						1	0			226	8,6452		0,5,3,2341,1765	no	coding	MAGEC1	NM_005462.4		0,6,5,3926,2300	A1A1,A1R,A1,RR,R		0.1238,0.0809,0.1082				11,10158				SO:0001651	inframe_deletion	0			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.1795_1797delCCT	X.37:g.140994988_140994990delCCT	ENSP00000285879:p.Pro600del		A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	pfam_MAGE,pfscan_MAGE	p.P600in_frame_del	ENST00000285879.4	37	c.1795_1797	CCDS35417.1	X																																																																																			MAGEC1	-	NULL	ENSG00000155495		0.581	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1		0	81	0	CCT	NM_005462		140994987	1	tier1		no_errors	ENST00000285879	ensembl	human	known	74_37	in_frame_del	39.51	49	32	DEL	0.972:0.982:0.991	-	-	140994987	CCT	-	140994985	7	5	131	1	0	1	0	1	0	0	0	0	9218	623	22	0	1801	0	MAGEC1	23	140994985	In_Frame_Del	DEL	CCT	TCGA-LN-A8I1-01A-11D-A36J-09	1	140994985	14275575	217	33730	126	2	2	36		4	3	39	N	CCT_C_A	3.358918e-08
MAGEC1	9947	genome.wustl.edu	37	chrX	140995006	140995006	+	Missense_Mutation	SNP	A	A	C	1	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	ctcctcagggggaggactccAtgtctcctctctactttcct	5	13	8	15	0	3	0	1	0	2	0	8	2	6	2	4	3	1	0	4	3	1	2			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:140995006A>C	ENST00000285879.4	+	4	2102	c.1816A>C	c.(1816-1818)Atg>Ctg	p.M606L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	606										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)					GGAGGACTCCATGTCTCCTCT	0.577										HNSCC(15;0.026)																																							0													201	213	209					X																	140995006		2203	4300	6503	SO:0001583	missense	0			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.1816A>C	X.37:g.140995006A>C	ENSP00000285879:p.Met606Leu		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.M606L	ENST00000285879.4	37	c.1816	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	a	1.893	-0.455034	0.04540	.	.	ENSG00000155495	ENST00000285879	T	0.01947	4.54	0.96	-1.92	0.07618	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47799	-0.9089	9	0.13853	T	0.58	.	8.422	0.32707	0.2365:0.7634:0.0:0.0	.	606	O60732	MAGC1_HUMAN	L	606	ENSP00000285879:M606L	ENSP00000285879:M606L	M	+	1	0	MAGEC1	140822672	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-3.901000	0.00338	-2.973000	0.00285	-3.046000	0.00070	ATG	MAGEC1	-	NULL	ENSG00000155495		0.577	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0	79	0	A	NM_005462		140995006	1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	55.56	32	40	SNP	0.064	C	C	140995006	A	C	140995006	3	2	131	1	0	0	0	0	1	0	0	0	9218	217	8	4	1822	4	MAGEC1	23	140995006	Missense_Mutation	SNP	A	TCGA-LN-A8I1-01A-11D-A36J-09	21	140995006	14275554	218	33731			2	36		4	3	39	N	CCT_C_A	3.358918e-08
F8	2157	genome.wustl.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-																															gaatggctaaagaaaggttaTtttttttggctccttgtaag																								rs387906455		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	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)	p.N1460fs*5(2)|p.N1460fs*2(2)		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)	AGAAAGGTTATTTTTTTTGGC	0.413																																																	4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	GRCh37	CD910498	F8	D							86	84	85					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	0			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.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs		Q14286|Q5HY69	Frame_Shift_Del	DEL	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.N1460fs	ENST00000360256.4	37	c.4379	CCDS35457.1	X																																																																																			F8	-	NULL	ENSG00000185010		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4		0	41	0	T			154157686	-1	tier1		no_errors	ENST00000360256	ensembl	human	known	74_37	frame_shift_del	11.63	38	5	DEL	0.012	-	-	154157686	T	-	154157686	7	5	131	1	0	1	0	1	0	0	0	0	5366	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-LN-A8I1-01A-11D-A36J-09	13162680	154157686	1112874	219	33732											
CASZ1	54897	genome.wustl.edu	37	chr1	10707929	10707929	+	Silent	SNP	C	C	T	0	0	0	1	1	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	agagaagtcgttgccaagggCgaggcgggcaggtgaggcac	10	4	19	8	3	0	2	0	1	0	1	1	4	0	2	1	5	1	3	1	5	2	1	rs61736954	byFrequency	TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:10707929C>T	ENST00000377022.3	-	16	3743	c.3426G>A	c.(3424-3426)tcG>tcA	p.S1142S	CASZ1_ENST00000344008.5_Silent_p.S1142S|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1142	Pro-rich.				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)		TTGCCAAGGGCGAGGCGGGCA	0.642													C|||	73	0.0145767	0.0537	0.0029	5008	,	,		17031	0		0	False		,,,				2504	0																0								C	,	210,4196	127.4+/-164.3	6,198,1999	75	79	78		3426,3426	-1.4	0.9	1	dbSNP_129	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CASZ1	NM_001079843.1,NM_017766.3	,	6,199,6298	TT,TC,CC		0.0116,4.7662,1.6223	,	1142/1760,1142/1167	10707929	211,12795	2203	4300	6503	SO:0001819	synonymous_variant	0			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.3426G>A	1.37:g.10707929C>T			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1142	ENST00000377022.3	37	c.3426	CCDS41246.1	1																																																																																			CASZ1	-	NULL	ENSG00000130940		0.642	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2		0	53	0	C	NM_017766		10707929	-1			no_errors	ENST00000377022	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.560	T	T	10707929	C	T	10707929	2	4	132	1	0	0	0	0	0	0	0	1	2692	755	27	1		1	CASZ1	1	10707929	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09		10707929	238542692	1	33733											
MTHFR	4524	genome.wustl.edu	37	chr1	11861267	11861267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagctgcttagctttgtgCagatggcccgtgatctcctc	5	12	10	14	1	1	2	0	1	1	1	3	2	1	2	3	1	4	4	3	1	1	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:11861267C>T	ENST00000376592.1	-	2	554	c.426G>A	c.(424-426)ctG>ctA	p.L142L	MTHFR_ENST00000376590.3_Silent_p.L142L|MTHFR_ENST00000376583.3_Silent_p.L183L|MTHFR_ENST00000376585.1_Silent_p.L183L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	142					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.L142L(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TAGCTTTGTGCAGATGGCCCG	0.622																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											95	88	90					1																	11861267		2203	4300	6503	SO:0001819	synonymous_variant	0			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.426G>A	1.37:g.11861267C>T			B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.L183	ENST00000376592.1	37	c.549	CCDS137.1	1																																																																																			MTHFR	-	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	ENSG00000177000		0.622	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1		0	24	0	C	NM_005957		11861267	-1			no_errors	ENST00000376583	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	T	T	11861267	C	T	11861267	2	4	132	1	0	0	0	0	0	0	0	1	9969	697	25	3		3	MTHFR	1	11861267	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	1153338	11861267	237389354	2	33734											
BAI2	576	genome.wustl.edu	37	chr1	32222184	32222184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtgcgcacacctgctcctggCggttgaagcgcaggtagagg	7	7	16	11	3	0	2	0	1	0	1	1	2	1	2	2	4	3	5	2	4	2	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:32222184C>T	ENST00000373658.3	-	4	595	c.254G>A	c.(253-255)cGc>cAc	p.R85H	BAI2_ENST00000398556.3_Missense_Mutation_p.R88H|BAI2_ENST00000398542.1_Missense_Mutation_p.R73H|BAI2_ENST00000257070.4_Missense_Mutation_p.R85H|BAI2_ENST00000373655.2_Missense_Mutation_p.R85H|BAI2_ENST00000398538.1_Missense_Mutation_p.R73H|BAI2_ENST00000527361.1_Missense_Mutation_p.R85H|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398547.1_Missense_Mutation_p.R73H	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	85					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)		CTGCTCCTGGCGGTTGAAGCG	0.647																																																	0													42	41	42					1																	32222184		2203	4300	6503	SO:0001583	missense	0			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.254G>A	1.37:g.32222184C>T	ENSP00000362762:p.Arg85His		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R85H	ENST00000373658.3	37	c.254	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185459	0.78677	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.53206	1.27;1.47;0.68;0.68;1.64;0.63;0.63;0.71;1.24;1.11	5.04	5.04	0.67666	.	0.000000	0.42964	D	0.000639	T	0.50274	0.1606	L	0.33485	1.01	0.80722	D	1	P;D;B;P;P;B	0.63046	0.834;0.992;0.354;0.916;0.552;0.241	B;P;B;B;B;B	0.56751	0.362;0.805;0.086;0.346;0.124;0.039	T	0.52563	-0.8559	10	0.87932	D	0	.	11.1071	0.48210	0.0:0.9131:0.0:0.0869	.	73;85;73;73;85;85	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	H	88;73;85;85;73;85;85;73;78;119	ENSP00000381564:R88H;ENSP00000381555:R73H;ENSP00000362762:R85H;ENSP00000362759:R85H;ENSP00000381550:R73H;ENSP00000257070:R85H;ENSP00000435397:R85H;ENSP00000381548:R73H;ENSP00000410921:R78H;ENSP00000437219:R119H	ENSP00000257070:R85H	R	-	2	0	BAI2	31994771	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.694000	0.54742	2.506000	0.84524	0.462000	0.41574	CGC	BAI2	-	NULL	ENSG00000121753		0.647	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0	56	0	C	NM_001703		32222184	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	T	T	32222184	C	T	32222184	3	4	132	1	0	0	0	0	1	0	0	0	1300	768	27	1	4623	1	BAI2	1	32222184	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	20360917	32222184	217028437	3	33735											
SPOCD1	90853	genome.wustl.edu	37	chr1	32266183	32266183	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctggccgtggctgatGgcccccaggagctggatcac	5	7	14	15	1	1	1	1	1	0	0	1	3	1	3	5	5	2	2	5	5	0	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:32266183G>T	ENST00000360482.2	-	4	1590	c.1461C>A	c.(1459-1461)gcC>gcA	p.A487A	SPOCD1_ENST00000257100.3_5'UTR|SPOCD1_ENST00000373648.2_Intron|SPOCD1_ENST00000533231.1_Silent_p.A487A	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	487					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)		CGTGGCTGATGGCCCCCAGGA	0.657																																																	0													17	16	17					1																	32266183		2202	4300	6502	SO:0001819	synonymous_variant	0			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.1461C>A	1.37:g.32266183G>T			Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.A487	ENST00000360482.2	37	c.1461	CCDS347.1	1																																																																																			SPOCD1	-	NULL	ENSG00000134668		0.657	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1		0	76	0	G	NM_144569		32266183	-1			no_errors	ENST00000360482	ensembl	human	known	74_37	silent	5.21	91	5	SNP	0.220	T	T	32266183	G	T	32266183	2	4	132	1	0	0	0	0	0	0	0	1	15125	1335	47	3		3	SPOCD1	1	32266183	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	43999	32266183	216984438	4	33736											
RPF1	80135	genome.wustl.edu	37	chr1	84961936	84961936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctttgaagatacatattCaggagtgaaaagaaagtggg	15	11	12	3	0	2	4	1	2	1	2	2	5	2	5	0	2	1	0	0	2	6	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:84961936C>T	ENST00000370654.5	+	8	906	c.891C>T	c.(889-891)ttC>ttT	p.F297F	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	297	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						GATACATATTCAGGAGTGAAA	0.318																																																	0													67	71	69					1																	84961936		2203	4300	6503	SO:0001819	synonymous_variant	0			AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"RNA processing factor 1", "ribosome production factor 1"		"brix domain containing 5"	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.891C>T	1.37:g.84961936C>T			Q5VSK7|Q6AHX1|Q8WXZ8	Silent	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.F297	ENST00000370654.5	37	c.891	CCDS695.1	1																																																																																			RPF1	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	ENSG00000117133		0.318	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPF1	HGNC	protein_coding	OTTHUMT00000027238.1	-	0	14	0	C	NM_025065		84961936	1	tier1	-	no_errors	ENST00000370654	ensembl	human	known	74_37	silent	63.41	15	26	SNP	1.000	T	T	84961936	C	T	84961936	2	4	132	1	0	0	0	0	0	0	0	1	13591	825	29	3		3	RPF1	1	84961936	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	52695753	84961936	164288685	5	33737											
HFM1	164045	genome.wustl.edu	37	chr1	91727919	91727919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctcaatctctggtgacaGattttgtggttttctttctt	5	21	7	8	0	4	2	1	1	4	1	6	2	4	2	0	2	0	1	0	2	1	7			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:91727919G>A	ENST00000370425.3	-	38	4215	c.4117C>T	c.(4117-4119)Ctg>Ttg	p.L1373L	HFM1_ENST00000462405.1_5'UTR|Y_RNA_ENST00000384090.1_RNA|HFM1_ENST00000370424.3_Silent_p.L1052L|HFM1_ENST00000294696.5_3'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1373					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)		TCTGGTGACAGATTTTGTGGT	0.284																																																	0													65	70	68					1																	91727919		2101	4267	6368	SO:0001819	synonymous_variant	0			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.4117C>T	1.37:g.91727919G>A			B1B0B6|Q8N9Q0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1373	ENST00000370425.3	37	c.4117	CCDS30769.2	1																																																																																			HFM1	-	NULL	ENSG00000162669		0.284	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	-	0	90	0	G	NM_001017975		91727919	-1	tier1	-	no_errors	ENST00000370425	ensembl	human	known	74_37	silent	31.33	103	47	SNP	0.639	A	A	91727919	G	A	91727919	2	1	132	1	0	0	0	0	0	0	0	1	7110	933	33	3		3	HFM1	1	91727919	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	6765983	91727919	157522702	6	33738											
PDZK1	5174	genome.wustl.edu	37	chr1	145752451	145752451	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagggggtgtacatgactGatattacacctcaaggtgtg	13	10	12	6	0	1	2	1	2	0	0	1	2	1	2	1	3	2	1	1	3	6	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:145752451G>C	ENST00000344770.2	+	4	557	c.484G>C	c.(484-486)Gat>Cat	p.D162H	PDZK1_ENST00000417171.1_Missense_Mutation_p.D162H|PDZK1_ENST00000451928.2_Intron	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	162	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GTACATGACTGATATTACACC	0.463																																																	0													157	124	135					1																	145752451		2203	4300	6503	SO:0001583	missense	0			AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.484G>C	1.37:g.145752451G>C	ENSP00000342143:p.Asp162His		B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D162H	ENST00000344770.2	37	c.484	CCDS924.1	1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125108	0.20959	.	.	ENSG00000174827	ENST00000443667;ENST00000417171;ENST00000344770	T;T;T	0.27890	1.64;1.64;1.64	5.31	3.45	0.39498	PDZ/DHR/GLGF (4);	0.865339	0.10035	N	0.724146	T	0.29749	0.0743	L	0.52573	1.65	0.20563	N	0.999883	D	0.65815	0.995	D	0.65684	0.937	T	0.09862	-1.0655	10	0.38643	T	0.18	-5.8656	9.4201	0.38546	0.1711:0.0:0.8289:0.0	.	162	Q5T2W1	NHRF3_HUMAN	H	162	ENSP00000409291:D162H;ENSP00000394485:D162H;ENSP00000342143:D162H	ENSP00000342143:D162H	D	+	1	0	PDZK1	144463808	0.968000	0.33430	0.026000	0.17262	0.029000	0.11900	2.603000	0.46266	0.823000	0.34589	-0.218000	0.12543	GAT	PDZK1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000174827		0.463	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZK1	HGNC	protein_coding	OTTHUMT00000038502.2	-	0	122	0	G	NM_002614		145752451	1	tier1	-	no_errors	ENST00000344770	ensembl	human	known	74_37	missense	32.29	130	62	SNP	0.021	C	C	145752451	G	C	145752451	3	2	132	1	0	0	0	0	1	0	0	0	11746	1290	45	5	494	5	PDZK1	1	145752451	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	54024532	145752451	103498170	7	33739											
SPTA1	6708	genome.wustl.edu	37	chr1	158606438	158606438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attctattcctacctggatgGcaggctcatgggccaccagc	8	10	10	13	0	2	0	1	0	1	0	3	1	3	1	4	4	2	2	4	4	2	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:158606438G>A	ENST00000368147.4	-	37	5483	c.5303C>T	c.(5302-5304)gCc>gTc	p.A1768V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1768					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)					TACCTGGATGGCAGGCTCATG	0.478																																																	0													90	90	90					1																	158606438		1875	4101	5976	SO:0001583	missense	0			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.5303C>T	1.37:g.158606438G>A	ENSP00000357129:p.Ala1768Val		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.A1768V	ENST00000368147.4	37	c.5303	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529085	0.64860	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50548	0.74;0.74	5.27	4.36	0.52297	.	.	.	.	.	T	0.28665	0.0710	L	0.41356	1.27	0.42385	D	0.992505	B	0.29835	0.258	B	0.40165	0.321	T	0.12451	-1.0547	9	0.26408	T	0.33	.	11.2964	0.49280	0.0846:0.0:0.9154:0.0	.	1768	P02549	SPTA1_HUMAN	V	1768	ENSP00000357130:A1768V;ENSP00000357129:A1768V	ENSP00000357129:A1768V	A	-	2	0	SPTA1	156873062	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	6.838000	0.75359	1.465000	0.48006	0.655000	0.94253	GCC	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0	36	0	G	NM_003126		158606438	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	158606438	G	A	158606438	3	1	132	1	0	0	0	0	1	0	0	0	15163	1203	42	3	2020	3	SPTA1	1	158606438	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	12853987	158606438	90644183	8	33740											
NME7	29922	genome.wustl.edu	37	chr1	169292492	169292493	+	Frame_Shift_Ins	INS	-	-	A																															tatcatatttggtccgctttINSaaaaaggtgcgatgattctt																										TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:169292492_169292493insA	ENST00000367811.3	-	3	396_397	c.140_141insT	c.(139-141)ttafs	p.L47fs	RP4-800F24.1_ENST00000432081.1_RNA|NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Frame_Shift_Ins_p.L11fs	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	47	DM10. {ECO:0000255|PROSITE- ProRule:PRU00665}.				brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TGGTCCGCTTTAAAAAGGTGCG	0.327																																																	0																																										SO:0001589	frameshift_variant	0			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.141dupT	1.37:g.169292497_169292497dupA	ENSP00000356785:p.Leu47fs		A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Frame_Shift_Ins	INS	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase	p.L47fs	ENST00000367811.3	37	c.141_140	CCDS1277.1	1																																																																																			NME7	-	smart_Uncharacterised_DM10,pirsf_NDK7	ENSG00000143156		0.327	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME7	HGNC	protein_coding	OTTHUMT00000083688.1		0	32	0	-	NM_013330		169292493	-1	tier1		no_errors	ENST00000367811	ensembl	human	known	74_37	frame_shift_ins	13.95	37	6	INS	0.998:1.000	A	A	169292493	-	A	169292492	7	5	132	1	0	1	1	0	0	0	0	0	10535	1751	61	0	1029	0	NME7	1	169292492	Frame_Shift_Ins	INS	-	TCGA-LN-A9FO-01A-11D-A387-09	10686054	169292492	79958129	9	33741											
SEC16B	89866	genome.wustl.edu	37	chr1	177913774	177913774	+	Silent	SNP	A	A	C	1	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	tccgtcctctggattgcctcAgttgttgcaaatttcaaaaa	10	14	7	10	1	3	0	2	0	1	0	5	1	5	1	3	1	2	3	3	1	3	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:177913774A>C	ENST00000308284.6	-	15	1892	c.1803T>G	c.(1801-1803)acT>acG	p.T601T	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	601					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGATTGCCTCAGTTGTTGCAA	0.473																																																	0													134	137	136					1																	177913774		1890	4112	6002	SO:0001819	synonymous_variant	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1803T>G	1.37:g.177913774A>C			A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	NULL	p.T601	ENST00000308284.6	37	c.1803	CCDS44281.1	1																																																																																			SEC16B	-	NULL	ENSG00000120341		0.473	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	HGNC	protein_coding	OTTHUMT00000084773.16	-	0	44	0	A	NM_033127		177913774	-1	tier1	-	no_errors	ENST00000308284	ensembl	human	known	74_37	silent	17.53	80	17	SNP	0.042	C	C	177913774	A	C	177913774	2	2	132	1	0	0	0	0	0	0	0	1	14032	175	7	4		4	SEC16B	1	177913774	Silent	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	8621282	177913774	71336847	10	33742											
CR2	1380	genome.wustl.edu	37	chr1	207639910	207639910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgcctatcctaaatggccGgattagttattattctaccc	9	14	6	12	2	1	0	0	0	1	0	3	1	3	1	5	2	1	1	5	2	7	7	rs368072577		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:207639910G>A	ENST00000367058.3	+	2	287	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	CR2_ENST00000458541.2_Missense_Mutation_p.R33Q|CR2_ENST00000367057.3_Missense_Mutation_p.R33Q|CR2_ENST00000367059.3_Missense_Mutation_p.R33Q	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	33	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTAAATGGCCGGATTAGTTAT	0.413																																																	0								G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	124	129	128		98,98	2.2	0	1		128	0,8600		0,0,4300	no	missense,missense	CR2	NM_001006658.2,NM_001877.4	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	33/1093,33/1034	207639910	1,13005	2203	4300	6503	SO:0001583	missense	0			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.98G>A	1.37:g.207639910G>A	ENSP00000356025:p.Arg33Gln		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R33Q	ENST00000367058.3	37	c.98	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947560	0.53186	2.27E-4	0.0	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.09	2.21	0.28008	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.68081	0.2962	L	0.53671	1.685	0.09310	N	1	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.65443	0.906;0.928;0.935	T	0.54629	-0.8265	9	0.52906	T	0.07	.	4.3542	0.11170	0.1849:0.0:0.6356:0.1795	.	33;33;33	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Q	33	ENSP00000356025:R33Q;ENSP00000356024:R33Q;ENSP00000356026:R33Q;ENSP00000404222:R33Q	ENSP00000356024:R33Q	R	+	2	0	CR2	205706533	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.222000	0.32515	0.329000	0.23460	-0.169000	0.13324	CGG	CR2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117322		0.413	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	-	0	47	0	G	NM_001877		207639910	1	tier1	-	no_errors	ENST00000367057	ensembl	human	known	74_37	missense	16.82	89	18	SNP	0.000	A	A	207639910	G	A	207639910	3	1	132	1	0	0	0	0	1	0	0	0	3849	1116	39	1	104	1	CR2	1	207639910	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	29726136	207639910	41610711	11	33743											
LPGAT1	9926	genome.wustl.edu	37	chr1	211956837	211956837	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagctgttggtcacgataaGatcttccctagaaggtacac	11	10	10	10	1	2	2	1	0	1	2	3	3	3	2	1	2	2	4	1	2	4	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:211956837G>C	ENST00000366997.4	-	5	687	c.461C>G	c.(460-462)tCt>tGt	p.S154C	LPGAT1_ENST00000366996.1_Missense_Mutation_p.S154C	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	154					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GTCACGATAAGATCTTCCCTA	0.358																																																	0													78	75	76					1																	211956837		2203	4300	6503	SO:0001583	missense	0			D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"family with sequence similarity 34, member A"	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.461C>G	1.37:g.211956837G>C	ENSP00000355964:p.Ser154Cys		Q53YL2	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.S154C	ENST00000366997.4	37	c.461	CCDS31018.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453742	0.84209	.	.	ENSG00000123684	ENST00000366997;ENST00000366996	D;D	0.93953	-3.32;-3.32	6.04	5.13	0.70059	Phospholipid/glycerol acyltransferase (2);	0.090760	0.85682	D	0.000000	D	0.91994	0.7464	L	0.32530	0.975	0.39974	D	0.974831	P	0.49783	0.928	P	0.50791	0.65	D	0.91868	0.5505	10	0.37606	T	0.19	-8.1716	15.5249	0.75894	0.0661:0.0:0.9339:0.0	.	154	Q92604	LGAT1_HUMAN	C	154	ENSP00000355964:S154C;ENSP00000355963:S154C	ENSP00000355963:S154C	S	-	2	0	LPGAT1	210023460	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	8.846000	0.92159	1.568000	0.49683	0.561000	0.74099	TCT	LPGAT1	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	ENSG00000123684		0.358	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPGAT1	HGNC	protein_coding	OTTHUMT00000090150.1	-	0	22	0	G	NM_014873		211956837	-1	tier1	-	no_errors	ENST00000366997	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	C	C	211956837	G	C	211956837	3	2	132	1	0	0	0	0	1	0	0	0	8949	942	33	5	667	5	LPGAT1	1	211956837	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	4316927	211956837	37293784	12	33744											
MIA3	375056	genome.wustl.edu	37	chr1	222791507	222791507	+	Silent	SNP	C	C	A	0	0	0	1	1	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	tcgtgctccggctgccctggCgggtgccgggccagctggac	2	7	17	15	4	0	0	0	0	0	0	2	1	1	1	4	5	4	3	4	5	0	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:222791507C>A	ENST00000344922.5	+	1	80	c.55C>A	c.(55-57)Cgg>Agg	p.R19R	MIA3_ENST00000344507.1_Silent_p.R19R|MIA3_ENST00000344441.6_Silent_p.R19R|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	19					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCTGCCCTGGCGGGTGCCGGG	0.726																																																	0													2	4	3					1																	222791507		1517	3450	4967	SO:0001819	synonymous_variant	0				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.55C>A	1.37:g.222791507C>A			A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain	p.R19	ENST00000344922.5	37	c.55	CCDS41470.1	1																																																																																			MIA3	-	NULL	ENSG00000154305		0.726	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	-	0	10	0	C	NM_198551		222791507	1	tier1	-	no_errors	ENST00000344441	ensembl	human	known	74_37	silent	60.00	4	6	SNP	0.001	A	A	222791507	C	A	222791507	2	1	132	1	0	0	0	0	0	0	0	1	9603	759	27	2		2	MIA3	1	222791507	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	10834670	222791507	26459114	13	33745											
ACTA1	58	genome.wustl.edu	37	chr1	229567918	229567918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cttctccttgatgtcgcgcaCgatctcgcgctcagctgcgg	4	11	11	15	6	3	1	1	1	2	0	6	2	3	1	1	1	2	3	1	1	0	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:229567918C>T	ENST00000366684.3	-	5	733	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	ACTA1_ENST00000366683.2_Missense_Mutation_p.V123M	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	211					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				ATGTCGCGCACGATCTCGCGC	0.692																																																	0													35	30	32					1																	229567918		2203	4300	6503	SO:0001583	missense	0			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.631G>A	1.37:g.229567918C>T	ENSP00000355645:p.Val211Met		P02568|P99020|Q5T8M9	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.V211M	ENST00000366684.3	37	c.631	CCDS1578.1	1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997654	0.54147	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	D;D	0.95171	-3.63;-3.63	4.28	4.28	0.50868	.	0.153298	0.41097	D	0.000944	D	0.97901	0.9310	H	0.94345	3.525	0.58432	D	0.999999	D	0.71674	0.998	D	0.81914	0.995	D	0.98206	1.0470	10	0.40728	T	0.16	.	16.8952	0.86098	0.0:1.0:0.0:0.0	.	211	P68133	ACTS_HUMAN	M	211;121;123;176	ENSP00000355645:V211M;ENSP00000355644:V123M	ENSP00000312351:V121M	V	-	1	0	ACTA1	227634541	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.626000	0.61269	2.201000	0.70794	0.563000	0.77884	GTG	ACTA1	-	pfam_Actin-related,smart_Actin-related	ENSG00000143632		0.692	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1	-	0	40	0	C	NM_001100		229567918	-1	tier1	-	no_errors	ENST00000366684	ensembl	human	known	74_37	missense	10.17	53	6	SNP	1.000	T	T	229567918	C	T	229567918	3	4	132	1	0	0	0	0	1	0	0	0	191	536	19	1	514	1	ACTA1	1	229567918	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	6776411	229567918	19682703	14	33746											
CNST	163882	genome.wustl.edu	37	chr1	246811175	246811175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttagaaggatgtttaaaaGatactgaagattccctttcc	13	15	7	6	0	0	4	0	1	0	3	2	5	2	5	2	1	1	1	2	1	6	7			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr1:246811175G>C	ENST00000366513.4	+	9	1941	c.1672G>C	c.(1672-1674)Gat>Cat	p.D558H	CNST_ENST00000366512.3_Missense_Mutation_p.D558H|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	558					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						ATGTTTAAAAGATACTGAAGA	0.423																																																	0													142	148	146					1																	246811175		2203	4300	6503	SO:0001583	missense	0			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.1672G>C	1.37:g.246811175G>C	ENSP00000355470:p.Asp558His		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	NULL	p.D558H	ENST00000366513.4	37	c.1672	CCDS1628.1	1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388955	0.42308	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.31247	1.6;1.5	5.5	3.58	0.41010	.	0.161083	0.43579	D	0.000556	T	0.49304	0.1549	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.68039	0.955;0.898	T	0.49551	-0.8928	10	0.87932	D	0	-14.8663	10.6327	0.45547	0.0689:0.0:0.7983:0.1328	.	558;558	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	H	558	ENSP00000355470:D558H;ENSP00000355469:D558H	ENSP00000355469:D558H	D	+	1	0	CNST	244877798	1.000000	0.71417	0.009000	0.14445	0.537000	0.34900	3.510000	0.53393	0.772000	0.33382	0.467000	0.42956	GAT	CNST	-	NULL	ENSG00000162852		0.423	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNST	HGNC	protein_coding	OTTHUMT00000096780.1	-	0	17	0	G	NM_152609		246811175	1	tier1	-	no_errors	ENST00000366513	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.761	C	C	246811175	G	C	246811175	3	2	132	1	0	0	0	0	1	0	0	0	3641	942	33	5	1702	5	CNST	1	246811175	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	17243257	246811175	2439446	15	33747											
TAF1B	9014	genome.wustl.edu	37	chr2	10073979	10073979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttatcagtttatactaaatCtcttctccttcctgctcaga	9	17	4	11	0	4	1	2	0	2	1	7	1	5	1	2	0	2	3	2	0	5	7			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr2:10073979C>G	ENST00000263663.5	+	15	1821	c.1633C>G	c.(1633-1635)Ctc>Gtc	p.L545V	RP11-95D17.1_ENST00000602458.1_lincRNA|TAF1B_ENST00000396242.3_Missense_Mutation_p.L290V	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	545					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)					TATACTAAATCTCTTCTCCTT	0.313																																																	0													66	72	70					2																	10073979		2202	4299	6501	SO:0001583	missense	0			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.1633C>G	2.37:g.10073979C>G	ENSP00000263663:p.Leu545Val		B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	pfam_TF_Rrn7	p.L545V	ENST00000263663.5	37	c.1633	CCDS33143.1	2	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424257	0.43020	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.45668	0.89;0.89	5.64	1.39	0.22231	.	0.117742	0.56097	D	0.000026	T	0.28863	0.0716	M	0.65498	2.005	0.33581	D	0.599869	P	0.48294	0.908	B	0.34489	0.184	T	0.42413	-0.9453	9	.	.	.	-3.5715	3.2253	0.06730	0.3173:0.4505:0.1449:0.0873	.	545	Q53T94	TAF1B_HUMAN	V	545;290	ENSP00000263663:L545V;ENSP00000379542:L290V	.	L	+	1	0	TAF1B	9991430	0.992000	0.36948	0.969000	0.41365	0.994000	0.84299	1.212000	0.32394	0.691000	0.31592	0.462000	0.41574	CTC	TAF1B	-	NULL	ENSG00000115750		0.313	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2	-	0	37	0	C	NM_005680		10073979	1	tier1	-	no_errors	ENST00000263663	ensembl	human	known	74_37	missense	14.71	58	10	SNP	0.986	G	G	10073979	C	G	10073979	3	3	132	1	0	0	0	0	1	0	0	0	15567	913	32	5	1691	5	TAF1B	2	10073979	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09		10073979	233125394	16	33748											
XDH	7498	genome.wustl.edu	37	chr2	31571772	31571772	+	Missense_Mutation	SNP	A	A	G	1	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	ataaagcaattacctgattcAgaaaaggaactgtaaagctt	18	10	7	6	0	1	2	1	1	0	1	1	3	1	3	1	1	4	3	1	1	9	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr2:31571772A>G	ENST00000379416.3	-	27	3092	c.3044T>C	c.(3043-3045)cTg>cCg	p.L1015P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1015					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)	TACCTGATTCAGAAAAGGAAC	0.388																																					Colon(66;682 1445 30109 40147)												0													92	92	92					2																	31571772		2203	4300	6503	SO:0001583	missense	0			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.3044T>C	2.37:g.31571772A>G	ENSP00000368727:p.Leu1015Pro		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.L1015P	ENST00000379416.3	37	c.3044	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406476	0.83230	.	.	ENSG00000158125	ENST00000379416	T	0.43294	0.95	5.85	5.85	0.93711	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.90650	3.135	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.77696	-0.2491	10	0.72032	D	0.01	.	15.9218	0.79583	1.0:0.0:0.0:0.0	.	1015	P47989	XDH_HUMAN	P	1015	ENSP00000368727:L1015P	ENSP00000368727:L1015P	L	-	2	0	XDH	31425276	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.763000	0.91715	2.237000	0.73441	0.459000	0.35465	CTG	XDH	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH	ENSG00000158125		0.388	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1		0	29	0	A	NM_000379		31571772	-1			no_errors	ENST00000379416	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	G	G	31571772	A	G	31571772	3	3	132	1	0	0	0	0	1	0	0	0	17475	188	7	4	997	4	XDH	2	31571772	Missense_Mutation	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	21497793	31571772	211627601	17	33749											
PROM2	150696	genome.wustl.edu	37	chr2	95943752	95943752	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctccagcatggtccaggaGgtgagagccacctggtctgc	7	9	13	12	0	2	1	0	1	2	1	4	3	3	2	4	4	3	1	4	4	0	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr2:95943752G>T	ENST00000317620.9	+	8	1183	c.1050G>T	c.(1048-1050)gaG>gaT	p.E350D	PROM2_ENST00000317668.4_Splice_Site_p.E350D|PROM2_ENST00000403131.2_Splice_Site_p.E350D|PROM2_ENST00000542147.1_Splice_Site_p.E350D	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	350					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						TGGTCCAGGAGGTGAGAGCCA	0.562																																																	0													72	55	60					2																	95943752		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1050+1G>T	2.37:g.95943752G>T			A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	pfam_Prominin	p.E350D	ENST00000317620.9	37	c.1050	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921366	0.73213	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.17	5.17	0.71159	.	0.195682	0.34750	N	0.003715	T	0.45054	0.1323	M	0.70595	2.14	0.46654	D	0.99914	P	0.36354	0.549	B	0.31442	0.13	T	0.41645	-0.9497	10	0.30078	T	0.28	-28.9214	14.0525	0.64747	0.0:0.0:1.0:0.0	.	350	Q8N271	PROM2_HUMAN	D	350	ENSP00000385716:E350D;ENSP00000318520:E350D;ENSP00000318270:E350D;ENSP00000442542:E350D	ENSP00000318270:E350D	E	+	3	2	PROM2	95307479	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.605000	0.61119	2.703000	0.92315	0.655000	0.94253	GAG	PROM2	-	pfam_Prominin	ENSG00000155066		0.562	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1		0	57	0	G	NM_144707	Missense_Mutation	95943752	1			no_errors	ENST00000317620	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	T	T	95943752	G	T	95943752	5	4	132	1	0	0	0	0	0	0	1	0	12598	1014	35	3	1080	3	PROM2	2	95943752	Splice_Site	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	64371980	95943752	147255621	18	33750											
CXCR4	7852	genome.wustl.edu	37	chr2	136873012	136873012	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atagtcagcaggagggcaggGatccagacgccaacatagac	14	4	13	10	1	1	2	1	0	0	2	2	4	2	4	2	3	2	2	2	3	3	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr2:136873012G>C	ENST00000241393.3	-	2	590	c.486C>G	c.(484-486)atC>atG	p.I162M	CXCR4_ENST00000409817.1_Missense_Mutation_p.I166M|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	162					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	GGAGGGCAGGGATCCAGACGC	0.542																																																	0													181	152	162					2																	136873012		2203	4300	6503	SO:0001583	missense	0			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.486C>G	2.37:g.136873012G>C	ENSP00000241393:p.Ile162Met		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N_dom,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.I166M	ENST00000241393.3	37	c.498	CCDS46420.1	2	.	.	.	.	.	.	.	.	.	.	G	5.178	0.218430	0.09810	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.40756	1.02;1.02	5.97	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.176879	0.51477	D	0.000089	T	0.24084	0.0583	L	0.33189	0.99	0.44515	D	0.997468	B;P	0.39157	0.007;0.662	B;B	0.37239	0.072;0.244	T	0.03910	-1.0993	10	0.37606	T	0.19	.	1.8247	0.03118	0.2339:0.1458:0.4665:0.1538	.	162;166	P61073;P61073-2	CXCR4_HUMAN;.	M	166;162;32	ENSP00000386884:I166M;ENSP00000241393:I162M	ENSP00000241393:I162M	I	-	3	3	CXCR4	136589482	0.357000	0.24938	1.000000	0.80357	0.263000	0.26337	-0.338000	0.07842	0.271000	0.22005	0.655000	0.94253	ATC	CXCR4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000121966		0.542	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXCR4	HGNC	protein_coding	OTTHUMT00000331732.1	-	0	27	0	G			136873012	-1	tier1	-	no_errors	ENST00000409817	ensembl	human	known	74_37	missense	41.67	21	15	SNP	0.997	C	C	136873012	G	C	136873012	3	2	132	1	0	0	0	0	1	0	0	0	4102	1164	41	5	576	5	CXCR4	2	136873012	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	40929260	136873012	106326361	19	33751											
TTN	7273	genome.wustl.edu	37	chr2	179648828	179648828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccgtgcagtacttcaaagCgctcttcacggacggtggtg	7	10	13	11	4	3	0	2	0	1	0	4	1	4	1	1	3	3	3	1	3	2	3	rs376922544		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr2:179648828C>T	ENST00000591111.1	-	16	2968	c.2744G>A	c.(2743-2745)cGc>cAc	p.R915H	TTN_ENST00000342992.6_Missense_Mutation_p.R915H|TTN_ENST00000360870.5_Missense_Mutation_p.R915H|TTN_ENST00000359218.5_Missense_Mutation_p.R869H|TTN_ENST00000460472.2_Missense_Mutation_p.R869H|TTN_ENST00000342175.6_Missense_Mutation_p.R869H|TTN_ENST00000589042.1_Missense_Mutation_p.R915H			Q8WZ42	TITIN_HUMAN	titin	33951					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)			TACTTCAAAGCGCTCTTCACG	0.547																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	141	115	124		2606,2606,2744,2744,2606	-5.7	0	2		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	869/27119,869/27052,915/5605,915/33424,869/26927	179648828	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2744G>A	2.37:g.179648828C>T	ENSP00000465570:p.Arg915His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R915H	ENST00000591111.1	37	c.2744		2	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569294	0.28003	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62498	0.02;0.26;0.24;0.23;0.38	5.52	-5.66	0.02451	Ribonuclease H-like (1);	.	.	.	.	T	0.40979	0.1139	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.10296	0.0;0.0;0.0;0.0;0.003	B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.002	T	0.24870	-1.0148	9	0.87932	D	0	.	16.113	0.81275	0.0:0.3114:0.0:0.6886	.	869;869;869;915;915	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	915;869;869;869;869;915	ENSP00000343764:R915H;ENSP00000434586:R869H;ENSP00000340554:R869H;ENSP00000352154:R869H;ENSP00000354117:R915H	ENSP00000340554:R869H	R	-	2	0	TTN	179357073	0.000000	0.05858	0.035000	0.18076	0.043000	0.13939	-0.116000	0.10724	-0.956000	0.03631	-1.743000	0.00684	CGC	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.547	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	38	0	C	NM_133378		179648828	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	19.64	45	11	SNP	0.001	T	T	179648828	C	T	179648828	3	4	132	1	0	0	0	0	1	0	0	0	16784	768	27	1	108632	1	TTN	2	179648828	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	42775816	179648828	63550545	20	33752											
FSIP2	401024	genome.wustl.edu	37	chr2	186655921	186655921	+	Missense_Mutation	SNP	T	T	C	0	1	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	gagtattgatgatgacatttTggcgagtccattattaacct	11	15	9	6	1	0	3	0	3	0	0	1	5	1	3	2	1	1	1	2	1	3	6			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr2:186655921T>C	ENST00000424728.1	+	16	4058	c.4058T>C	c.(4057-4059)tTg>tCg	p.L1353S	AC008174.3_ENST00000429929.1_RNA|AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.L1442S			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1353										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GATGACATTTTGGCGAGTCCA	0.343																																																	0																																										SO:0001583	missense	0			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.4058T>C	2.37:g.186655921T>C	ENSP00000401306:p.Leu1353Ser		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.L1442S	ENST00000424728.1	37	c.4325		2	.	.	.	.	.	.	.	.	.	.	T	6.817	0.519849	0.13005	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.53206	0.63;0.64	5.01	-1.85	0.07784	.	0.666605	0.14691	N	0.304157	T	0.21145	0.0509	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.15578	-1.0432	8	0.87932	D	0	.	0.9154	0.01303	0.1519:0.2617:0.1573:0.4291	.	.	.	.	S	1442;1353;1353	ENSP00000344403:L1442S;ENSP00000401306:L1353S	ENSP00000321903:L1353S	L	+	2	0	FSIP2	186364166	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.026000	0.12392	-0.478000	0.06823	-0.297000	0.09499	TTG	FSIP2	-	NULL	ENSG00000188738		0.343	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	11	0	T	NM_173651		186655921	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	44.44	30	24	SNP	0.000	C	C	186655921	T	C	186655921	3	2	132	1	0	0	0	0	1	0	0	0	6099	1821	63	4	4387	4	FSIP2	2	186655921	Missense_Mutation	SNP	T	TCGA-LN-A9FO-01A-11D-A387-09	7007093	186655921	56543452	21	33753											
NOP58	51602	genome.wustl.edu	37	chr2	203149089	203149089	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagctgaatctcagttgtAtccatagtcctgttgttaat	12	15	7	7	0	1	1	1	1	1	0	4	1	3	1	2	0	1	5	2	0	6	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr2:203149089A>T	ENST00000264279.5	+	5	545	c.319A>T	c.(319-321)Atc>Ttc	p.I107F	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	107					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TCTCAGTTGTATCCATAGTCC	0.338																																																	0													99	91	94					2																	203149089		2203	4300	6503	SO:0001583	missense	0				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.319A>T	2.37:g.203149089A>T	ENSP00000264279:p.Ile107Phe		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.I107F	ENST00000264279.5	37	c.319	CCDS2353.1	2	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227677	0.58668	.	.	ENSG00000055044	ENST00000264279	T	0.61392	0.11	5.39	5.39	0.77823	.	0.126884	0.56097	D	0.000030	T	0.54532	0.1864	M	0.69358	2.11	0.58432	D	0.999993	B;B	0.25007	0.056;0.116	B;B	0.25614	0.036;0.062	T	0.55379	-0.8150	10	0.45353	T	0.12	-8.5694	10.1252	0.42646	0.9251:0.0:0.0749:0.0	.	107;107	B4DUY3;Q9Y2X3	.;NOP58_HUMAN	F	107	ENSP00000264279:I107F	ENSP00000264279:I107F	I	+	1	0	NOP58	202857334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.006000	0.70724	2.167000	0.68274	0.533000	0.62120	ATC	NOP58	-	NULL	ENSG00000055044		0.338	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	-	0	46	0	A	NM_015934		203149089	1	tier1	-	no_errors	ENST00000264279	ensembl	human	known	74_37	missense	26.32	70	25	SNP	1.000	T	T	203149089	A	T	203149089	3	4	132	1	0	0	0	0	1	0	0	0	10579	449	16	5	337	5	NOP58	2	203149089	Missense_Mutation	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	16493168	203149089	40050284	22	33754											
NBEAL1	65065	genome.wustl.edu	37	chr2	204053201	204053201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattctttttctaggagtctGaatatgtttcagctcatctt	8	20	6	7	0	6	1	2	1	4	0	6	2	6	2	0	1	1	2	0	1	4	8			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr2:204053201G>C	ENST00000449802.1	+	44	6958	c.6625G>C	c.(6625-6627)Gaa>Caa	p.E2209Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2209	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						CTAGGAGTCTGAATATGTTTC	0.318																																																	0													68	61	63					2																	204053201		1810	4070	5880	SO:0001583	missense	0			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.6625G>C	2.37:g.204053201G>C	ENSP00000399903:p.Glu2209Gln		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2209Q	ENST00000449802.1	37	c.6625	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862235	0.91511	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.77877	-1.13;-1.13	5.85	5.85	0.93711	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88151	0.2851	10	0.66056	D	0.02	.	19.7613	0.96319	0.0:0.0:1.0:0.0	.	2209;2198	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	Q	2209;2209;224	ENSP00000399903:E2209Q;ENSP00000388466:E224Q	ENSP00000344985:E2209Q	E	+	1	0	NBEAL1	203761446	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.751000	0.98889	2.773000	0.95371	0.585000	0.79938	GAA	NBEAL1	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000144426		0.318	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	-	0	48	0	G			204053201	1	tier1	-	no_errors	ENST00000449802	ensembl	human	known	74_37	missense	22.47	69	20	SNP	1.000	C	C	204053201	G	C	204053201	3	2	132	1	0	0	0	0	1	0	0	0	10226	1291	45	5	6795	5	NBEAL1	2	204053201	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	904112	204053201	39146172	23	33755											
CHPF	79586	genome.wustl.edu	37	chr2	220404553	220404553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatggcatgcatgcggcagCggttcaggaagtcaggcgtg	9	7	17	8	3	2	1	2	0	0	1	2	2	2	2	0	5	3	4	0	5	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr2:220404553C>T	ENST00000243776.6	-	4	2128	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	CHPF_ENST00000535926.1_Missense_Mutation_p.R465H	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	627					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)|mitochondrion (GO:0005739)	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(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CATGCGGCAGCGGTTCAGGAA	0.637																																																	0													83	87	86					2																	220404553		2202	4296	6498	SO:0001583	missense	0			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1880G>A	2.37:g.220404553C>T	ENSP00000243776:p.Arg627His		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.R627H	ENST00000243776.6	37	c.1880	CCDS2443.1	2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777538	0.90195	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.53206	0.63;0.63	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.72803	0.3506	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78440	-0.2203	10	0.87932	D	0	-25.6743	18.0261	0.89269	0.0:1.0:0.0:0.0	.	627	Q8IZ52	CHSS2_HUMAN	H	627;465	ENSP00000243776:R627H;ENSP00000445571:R465H	ENSP00000243776:R627H	R	-	2	0	CHPF	220112797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.247000	0.78257	2.563000	0.86464	0.561000	0.74099	CGC	CHPF	-	pfam_Chond_GalNAc	ENSG00000123989		0.637	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF	HGNC	protein_coding	OTTHUMT00000130268.1		0	18	0	C	NM_024536		220404553	-1			no_errors	ENST00000243776	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	T	T	220404553	C	T	220404553	3	4	132	1	0	0	0	0	1	0	0	0	3375	768	27	1	451	1	CHPF	2	220404553	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	16351352	220404553	22794820	24	33756											
STK11IP	114790	genome.wustl.edu	37	chr2	220480764	220480764	+	Splice_Site	SNP	A	A	G	1	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	tgctaactgctcggtctgccAggtgtcccggctggagagct	5	10	14	12	2	1	1	0	0	1	1	3	2	2	1	2	4	5	4	2	4	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr2:220480764A>G	ENST00000456909.1	+	25	3207		c.e25-1		STK11IP_ENST00000295641.10_Splice_Site			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein						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)		TCGGTCTGCCAGGTGTCCCGG	0.617																																																	0													52	57	56					2																	220480764		2053	4197	6250	SO:0001630	splice_region_variant	0			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.3118-1A>G	2.37:g.220480764A>G			Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Splice_Site	SNP	-	e24-2	ENST00000456909.1	37	c.3118-2		2	.	.	.	.	.	.	.	.	.	.	A	15.85	2.956193	0.53293	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1567	0.42827	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK11IP	220189008	0.998000	0.40836	1.000000	0.80357	0.783000	0.44284	4.792000	0.62467	1.908000	0.55244	0.533000	0.62120	.	STK11IP	-	-	ENSG00000144589		0.617	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1	-	0	26	0	A	NM_052902	Intron	220480764	1	tier1	-	no_errors	ENST00000456909	ensembl	human	novel	74_37	splice_site	55.00	9	11	SNP	0.997	G	G	220480764	A	G	220480764	5	3	132	1	0	0	0	0	0	0	1	0	15335	202	7	4	3247	4	STK11IP	2	220480764	Splice_Site	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	76211	220480764	22718609	25	33757											
KIAA1486	57624	genome.wustl.edu	37	chr2	226447460	226447460	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccctcccccgtcagcatgGggaggtccctgactcccctg	4	8	10	19	1	1	1	1	1	0	0	5	2	5	2	6	3	1	1	6	3	0	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr2:226447460G>C	ENST00000272907.6	+	4	1740	c.1327G>C	c.(1327-1329)Ggg>Cgg	p.G443R	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	443	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CGTCAGCATGGGGAGGTCCCT	0.632																																																	0													38	42	41					2																	226447460		2011	4184	6195	SO:0001583	missense	0			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.1327G>C	2.37:g.226447460G>C	ENSP00000272907:p.Gly443Arg		A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.G443R	ENST00000272907.6	37	c.1327	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946694	0.73672	.	.	ENSG00000144460	ENST00000272907	T	0.35789	1.29	5.19	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.48390	0.1497	L	0.54323	1.7	0.80722	D	1	P	0.51653	0.947	P	0.55785	0.784	T	0.51340	-0.8718	10	0.87932	D	0	-26.4106	13.4494	0.61161	0.0752:0.0:0.9248:0.0	.	443	Q9P242	K1486_HUMAN	R	443	ENSP00000272907:G443R	ENSP00000272907:G443R	G	+	1	0	KIAA1486	226155704	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.476000	0.97823	1.185000	0.42971	0.563000	0.77884	GGG	NYAP2	-	NULL	ENSG00000144460		0.632	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	-	0	67	0	G	NM_020864		226447460	1	tier1	-	no_errors	ENST00000272907	ensembl	human	known	74_37	missense	44.59	41	33	SNP	1.000	C	C	226447460	G	C	226447460	3	2	132	1	0	0	0	0	1	0	0	0	8264	1232	43	5	1337	5	KIAA1486	2	226447460	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	5966696	226447460	16751913	26	33758											
STAB1	23166	genome.wustl.edu	37	chr3	52551624	52551624	+	Missense_Mutation	SNP	T	T	C	0	1	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	catccggacctgcgagctccTggacccctgctctaaggtca	7	8	10	16	2	2	0	1	0	1	0	4	3	4	2	5	3	3	2	5	3	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr3:52551624T>C	ENST00000321725.6	+	44	4698	c.4622T>C	c.(4621-4623)cTg>cCg	p.L1541P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1541	EGF-like 13. {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)		TGCGAGCTCCTGGACCCCTGC	0.627																																																	0													50	50	50					3																	52551624		2203	4300	6503	SO:0001583	missense	0			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.4622T>C	3.37:g.52551624T>C	ENSP00000312946:p.Leu1541Pro		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.L1541P	ENST00000321725.6	37	c.4622	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946656	0.73672	.	.	ENSG00000010327	ENST00000321725	D	0.85556	-2.0	4.28	4.28	0.50868	Epidermal growth factor-like, type 3 (1);	0.473941	0.20544	N	0.090253	D	0.86789	0.6017	L	0.55481	1.735	0.80722	D	1	D	0.59357	0.985	P	0.54460	0.753	D	0.87657	0.2532	10	0.87932	D	0	.	11.194	0.48703	0.0:0.0:0.0:1.0	.	1541	Q9NY15	STAB1_HUMAN	P	1541	ENSP00000312946:L1541P	ENSP00000312946:L1541P	L	+	2	0	STAB1	52526664	0.978000	0.34361	0.999000	0.59377	0.770000	0.43624	1.702000	0.37836	1.929000	0.55896	0.533000	0.62120	CTG	STAB1	-	pfscan_EG-like_dom	ENSG00000010327		0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0	74	0	T	NM_015136		52551624	1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.996	C	C	52551624	T	C	52551624	3	2	132	1	0	0	0	0	1	0	0	0	15284	1580	55	4	4796	4	STAB1	3	52551624	Missense_Mutation	SNP	T	TCGA-LN-A9FO-01A-11D-A387-09		52551624	145470806	27	33759											
CRYBG3	131544	genome.wustl.edu	37	chr3	97599990	97599990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaaaaggtgttaaatcGtgactggattcttcagaaca	14	10	12	5	1	2	2	1	1	1	1	3	4	2	4	0	4	1	1	0	4	5	3	rs373418086		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr3:97599990G>T	ENST00000182096.4	+	4	1299	c.1235G>T	c.(1234-1236)cGt>cTt	p.R412L		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2360							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTGTTAAATCGTGACTGGATT	0.358																																																	0													87	87	87					3																	97599990		1828	4078	5906	SO:0001583	missense	0					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.1235G>T	3.37:g.97599990G>T	ENSP00000182096:p.Arg412Leu		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.R412L	ENST00000182096.4	37	c.1235		3	.	.	.	.	.	.	.	.	.	.	G	8.699	0.909280	0.17833	.	.	ENSG00000080200	ENST00000182096	T	0.76839	-1.05	4.89	-1.58	0.08479	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	1.093000	0.06854	N	0.797911	T	0.69314	0.3097	L	0.39898	1.24	0.30824	N	0.737458	B	0.25609	0.13	B	0.29077	0.098	T	0.56938	-0.7896	10	0.25106	T	0.35	.	11.1781	0.48612	0.6691:0.0:0.3309:0.0	.	412	Q68DQ2	CRBG3_HUMAN	L	412	ENSP00000182096:R412L	ENSP00000182096:R412L	R	+	2	0	CRYBG3	99082680	0.001000	0.12720	0.832000	0.32986	0.983000	0.72400	-0.212000	0.09319	-0.606000	0.05746	-0.145000	0.13849	CGT	CRYBG3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000080200		0.358	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1		0	28	0	G	NM_153605		97599990	1			no_errors	ENST00000182096	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.593	T	T	97599990	G	T	97599990	3	4	132	1	0	0	0	0	1	0	0	0	3920	1145	40	2	1249	2	CRYBG3	3	97599990	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	45048366	97599990	100422440	28	33760											
NCAPG	64151	genome.wustl.edu	37	chr4	17839321	17839321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccaatgcccctgcatcttCtcctttagctgaaattgata	9	13	7	12	0	2	2	0	2	2	0	3	2	2	2	4	1	3	2	4	1	4	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr4:17839321C>T	ENST00000251496.2	+	16	2539	c.2363C>T	c.(2362-2364)tCt>tTt	p.S788F		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	788					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)		CCTGCATCTTCTCCTTTAGCT	0.393																																																	0													168	166	167					4																	17839321		2203	4300	6503	SO:0001583	missense	0			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.2363C>T	4.37:g.17839321C>T	ENSP00000251496:p.Ser788Phe		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S788F	ENST00000251496.2	37	c.2363	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830225	0.91036	.	.	ENSG00000109805	ENST00000251496	T	0.50813	0.73	5.25	5.25	0.73442	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76075	-0.3092	10	0.87932	D	0	-14.7205	19.1974	0.93695	0.0:1.0:0.0:0.0	.	788	Q9BPX3	CND3_HUMAN	F	788	ENSP00000251496:S788F	ENSP00000251496:S788F	S	+	2	0	NCAPG	17448419	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.937000	0.75898	2.601000	0.87937	0.591000	0.81541	TCT	NCAPG	-	superfamily_ARM-type_fold	ENSG00000109805		0.393	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1		0	36	0	C	NM_022346		17839321	1			no_errors	ENST00000251496	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	17839321	C	T	17839321	3	4	132	1	0	0	0	0	1	0	0	0	10246	913	32	3	2425	3	NCAPG	4	17839321	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09		17839321	173314955	29	33761											
PPARGC1A	10891	genome.wustl.edu	37	chr4	23816165	23816165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagaggacttcagctttGgagaagccctaaaagggtta	13	9	12	7	0	1	2	1	0	0	2	1	4	1	3	1	3	3	3	1	3	5	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr4:23816165G>T	ENST00000264867.2	-	8	1060	c.941C>A	c.(940-942)cCa>cAa	p.P314Q	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	314	Interaction with PPARG.				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.P314Q(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)				CTTCAGCTTTGGAGAAGCCCT	0.438																																					Esophageal Squamous(29;694 744 13796 34866 44181)												1	Substitution - Missense(1)	endometrium(1)											95	101	99					4																	23816165		2203	4300	6503	SO:0001583	missense	0			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.941C>A	4.37:g.23816165G>T	ENSP00000264867:p.Pro314Gln		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P314Q	ENST00000264867.2	37	c.941	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348318	0.61183	.	.	ENSG00000109819	ENST00000264867	T	0.22743	1.94	6.02	6.02	0.97574	.	0.102097	0.64402	D	0.000001	T	0.42359	0.1199	L	0.49350	1.555	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.02610	-1.1134	10	0.51188	T	0.08	-8.869	20.6202	0.99473	0.0:0.0:1.0:0.0	.	314	Q9UBK2	PRGC1_HUMAN	Q	314	ENSP00000264867:P314Q	ENSP00000264867:P314Q	P	-	2	0	PPARGC1A	23425263	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.874000	0.69652	2.876000	0.98609	0.644000	0.83932	CCA	PPARGC1A	-	NULL	ENSG00000109819		0.438	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1		0	40	0	G	NM_013261		23816165	-1			no_errors	ENST00000264867	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	23816165	G	T	23816165	3	4	132	1	0	0	0	0	1	0	0	0	12339	1348	47	3	1479	3	PPARGC1A	4	23816165	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	5976844	23816165	167338111	30	33762											
UBE2K	3093	genome.wustl.edu	37	chr4	39776500	39776500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	tattattgtcattgcaagcaCtattggcagctgcagagcca	11	12	9	9	0	1	1	1	0	0	1	1	1	1	1	1	1	5	5	1	1	4	6			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr4:39776500C>G	ENST00000261427.5	+	5	630	c.346C>G	c.(346-348)Cta>Gta	p.L116V	UBE2K_ENST00000445950.2_Missense_Mutation_p.L116V|UBE2K_ENST00000503368.1_Missense_Mutation_p.L65V|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000295963.6_Intron	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	116					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						ATTGCAAGCACTATTGGCAGC	0.433																																					NSCLC(101;689 1592 16105 29682 31745)												0													61	62	61					4																	39776500		2203	4300	6503	SO:0001583	missense	0			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.346C>G	4.37:g.39776500C>G	ENSP00000261427:p.Leu116Val		A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,pfam_UBA/Ts_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBQ-conjugat_E2	p.L116V	ENST00000261427.5	37	c.346	CCDS33976.1	4	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781634	0.49891	.	.	ENSG00000078140	ENST00000261427;ENST00000503368;ENST00000445950	T;T;T	0.58940	0.3;0.3;0.3	5.55	2.41	0.29592	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.065348	0.64402	D	0.000013	T	0.79137	0.4395	H	0.96080	3.765	0.80722	D	1	B;B;D	0.55172	0.089;0.325;0.97	B;B;D	0.66196	0.285;0.238;0.942	T	0.80195	-0.1483	10	0.87932	D	0	-15.3765	7.4903	0.27458	0.0:0.6325:0.0:0.3675	.	116;65;116	P61086;P61086-2;C9JGP1	UBE2K_HUMAN;.;.	V	116;65;116	ENSP00000261427:L116V;ENSP00000421203:L65V;ENSP00000390483:L116V	ENSP00000261427:L116V	L	+	1	2	UBE2K	39452895	0.648000	0.27313	0.077000	0.20336	0.954000	0.61252	0.997000	0.29731	0.828000	0.34709	0.585000	0.79938	CTA	UBE2K	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000078140		0.433	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2K	HGNC	protein_coding	OTTHUMT00000361061.1	-	0	16	0	C	NM_005339		39776500	1	tier1	-	no_errors	ENST00000261427	ensembl	human	known	74_37	missense	81.25	3	13	SNP	0.828	G	G	39776500	C	G	39776500	3	3	132	1	0	0	0	0	1	0	0	0	16911	564	20	5	364	5	UBE2K	4	39776500	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	15960335	39776500	151377776	31	33763											
SEC31A	22872	genome.wustl.edu	37	chr4	83799895	83799895	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttaacctggaaaatgttCacatccaaggctctcactgg	11	11	8	11	0	3	0	2	0	2	0	5	1	4	1	2	3	1	2	2	3	4	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr4:83799895C>G	ENST00000395310.2	-	4	572	c.390G>C	c.(388-390)gtG>gtC	p.V130V	SEC31A_ENST00000448323.1_Silent_p.V130V|SEC31A_ENST00000513858.1_Silent_p.V130V|SEC31A_ENST00000508502.1_Silent_p.V130V|SEC31A_ENST00000326950.5_Silent_p.V130V|SEC31A_ENST00000509142.1_Silent_p.V130V|SEC31A_ENST00000508479.1_Silent_p.V130V|SEC31A_ENST00000443462.2_Silent_p.V125V|SEC31A_ENST00000348405.4_Silent_p.V130V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Silent_p.V130V|SEC31A_ENST00000505472.1_Silent_p.V130V|SEC31A_ENST00000432794.1_Silent_p.V130V|SEC31A_ENST00000311785.7_Silent_p.V130V|SEC31A_ENST00000355196.2_Silent_p.V130V|SEC31A_ENST00000500777.2_Silent_p.V130V	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)	130					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)				GGAAAATGTTCACATCCAAGG	0.363																																																	0													89	90	89					4																	83799895		2203	4300	6503	SO:0001819	synonymous_variant	0			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.390G>C	4.37:g.83799895C>G			B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V130	ENST00000395310.2	37	c.390	CCDS3596.1	4																																																																																			SEC31A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000138674		0.363	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	-	0	19	0	C	NM_016211		83799895	-1	tier1	-	no_errors	ENST00000432794	ensembl	human	known	74_37	silent	57.45	20	27	SNP	0.999	G	G	83799895	C	G	83799895	2	3	132	1	0	0	0	0	0	0	0	1	14043	813	29	5		5	SEC31A	4	83799895	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	44023395	83799895	107354381	32	33764											
DNAH5	1767	genome.wustl.edu	37	chr5	13810233	13810233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggcggcagctccagcGtccctgtgggccgagagcgc	4	5	17	15	5	0	1	0	0	0	1	2	2	2	1	3	4	3	2	3	4	0	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:13810233G>A	ENST00000265104.4	-	45	7648	c.7544C>T	c.(7543-7545)aCg>aTg	p.T2515M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2515					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)					CAGCTCCAGCGTCCCTGTGGG	0.731									Kartagener syndrome																																								0													8	8	8					5																	13810233		2046	4048	6094	SO:0001583	missense	0	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.7544C>T	5.37:g.13810233G>A	ENSP00000265104:p.Thr2515Met		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T2515M	ENST00000265104.4	37	c.7544	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723504	0.30593	.	.	ENSG00000039139	ENST00000265104	T	0.25579	1.79	5.1	0.471	0.16752	.	1.015230	0.07841	N	0.963030	T	0.20251	0.0487	L	0.50333	1.59	0.09310	N	1	B	0.20780	0.048	B	0.17433	0.018	T	0.35375	-0.9791	10	0.45353	T	0.12	.	1.7466	0.02963	0.1728:0.1077:0.259:0.4606	.	2515	Q8TE73	DYH5_HUMAN	M	2515	ENSP00000265104:T2515M	ENSP00000265104:T2515M	T	-	2	0	DNAH5	13863233	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.852000	0.27764	0.263000	0.21812	0.655000	0.94253	ACG	DNAH5	-	NULL	ENSG00000039139		0.731	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	40	0	G	NM_001369		13810233	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	26.79	41	15	SNP	0.000	A	A	13810233	G	A	13810233	3	1	132	1	0	0	0	0	1	0	0	0	4618	1145	40	1	6470	1	DNAH5	5	13810233	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09		13810233	167105027	33	33765											
CDH18	1016	genome.wustl.edu	37	chr5	19721493	19721493	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaagtagggttgtccttgGagaatgctgtaaaccacccg	11	9	13	8	1	0	2	0	0	0	2	1	4	1	2	3	2	2	4	3	2	5	4	rs201475677		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:19721493G>T	ENST00000507958.1	-	7	1596	c.606C>A	c.(604-606)ctC>ctA	p.L202L	CDH18_ENST00000382275.1_Silent_p.L202L|CDH18_ENST00000502796.1_Silent_p.L202L|CDH18_ENST00000511273.1_Silent_p.L202L|CDH18_ENST00000274170.4_Silent_p.L202L|CDH18_ENST00000506372.1_Silent_p.L202L			Q13634	CAD18_HUMAN	cadherin 18, type 2	202	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)	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)					GTTGTCCTTGGAGAATGCTGT	0.473																																																	0													164	144	151					5																	19721493		2203	4300	6503	SO:0001819	synonymous_variant	0			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.606C>A	5.37:g.19721493G>T			A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L202	ENST00000507958.1	37	c.606	CCDS3889.1	5																																																																																			CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000145526		0.473	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1		0	66	0	G	NM_004934		19721493	-1			no_errors	ENST00000274170	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	T	T	19721493	G	T	19721493	2	4	132	1	0	0	0	0	0	0	0	1	3110	1161	41	3		3	CDH18	5	19721493	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	5911260	19721493	161193767	34	33766											
PRDM9	56979	genome.wustl.edu	37	chr5	23527626	23527626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctatgtctgcagggagtgtgGgcggggctttagcaataagt	8	11	16	6	1	1	0	0	0	1	0	1	1	1	1	0	4	2	3	0	4	4	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:23527626G>T	ENST00000296682.3	+	11	2611	c.2429G>T	c.(2428-2430)gGg>gTg	p.G810V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	810					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						AGGGAGTGTGGGCGGGGCTTT	0.577										HNSCC(3;0.000094)																																							0													41	51	48					5																	23527626		2149	4269	6418	SO:0001583	missense	0			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.2429G>T	5.37:g.23527626G>T	ENSP00000296682:p.Gly810Val		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.G810V	ENST00000296682.3	37	c.2429	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	9.975	1.226605	0.22542	.	.	ENSG00000164256	ENST00000296682	T	0.22134	1.97	3.02	0.122	0.14702	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47746	0.1462	M	0.91612	3.225	0.49130	D	0.999757	D	0.89917	1.0	D	0.77557	0.99	T	0.47824	-0.9087	9	0.72032	D	0.01	.	7.4492	0.27229	0.3094:0.0:0.6906:0.0	.	810	Q9NQV7	PRDM9_HUMAN	V	810	ENSP00000296682:G810V	ENSP00000296682:G810V	G	+	2	0	PRDM9	23563383	0.981000	0.34729	0.819000	0.32651	0.015000	0.08874	1.714000	0.37961	0.026000	0.15269	0.472000	0.43445	GGG	PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.577	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	87	0	G	NM_020227		23527626	1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	34.57	52	28	SNP	0.904	T	T	23527626	G	T	23527626	3	4	132	1	0	0	0	0	1	0	0	0	12505	1232	43	3	2467	3	PRDM9	5	23527626	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	3806133	23527626	157387634	35	33767											
PDZD2	23037	genome.wustl.edu	37	chr5	32037378	32037378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatgtgtgcggtgctgaGgaatccaaggggaacttgga	11	8	16	6	1	0	2	0	1	0	1	1	5	1	5	1	5	3	1	1	5	4	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:32037378G>T	ENST00000438447.1	+	7	1837	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	PDZD2_ENST00000282493.3_Missense_Mutation_p.E483D			O15018	PDZD2_HUMAN	PDZ domain containing 2	483					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCGGTGCTGAGGAATCCAAGG	0.537																																																	0													80	77	78					5																	32037378		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1449G>T	5.37:g.32037378G>T	ENSP00000402033:p.Glu483Asp		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E483D	ENST00000438447.1	37	c.1449	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441610	0.43326	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.09163	3.01;3.01	5.37	2.08	0.27032	.	0.124840	0.36854	N	0.002374	T	0.05456	0.0144	N	0.14661	0.345	0.32153	N	0.584007	B;B	0.22541	0.071;0.053	B;B	0.25884	0.064;0.064	T	0.21793	-1.0235	10	0.24483	T	0.36	.	5.6481	0.17600	0.1219:0.3861:0.4919:0.0	.	309;483	B4E3P2;O15018	.;PDZD2_HUMAN	D	483	ENSP00000402033:E483D;ENSP00000282493:E483D	ENSP00000282493:E483D	E	+	3	2	PDZD2	32073135	1.000000	0.71417	0.984000	0.44739	0.391000	0.30476	1.265000	0.33027	0.740000	0.32651	-0.165000	0.13383	GAG	PDZD2	-	NULL	ENSG00000133401		0.537	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1		0	40	0	G			32037378	1			no_errors	ENST00000282493	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.996	T	T	32037378	G	T	32037378	3	4	132	1	0	0	0	0	1	0	0	0	11740	991	35	3	1471	3	PDZD2	5	32037378	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	8509752	32037378	148877882	36	33768											
NPR3	4883	genome.wustl.edu	37	chr5	32739001	32739001	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tggaagagaggagacaaacaCgactttgaagctaagcaagc	17	5	12	7	1	0	3	0	1	0	2	0	7	0	4	0	2	4	2	0	2	5	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:32739001C>T	ENST00000265074.8	+	3	1267	c.924C>T	c.(922-924)caC>caT	p.H308H	NPR3_ENST00000415685.2_Silent_p.H92H|NPR3_ENST00000415167.2_Silent_p.H308H|NPR3_ENST00000434067.2_Silent_p.H92H	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	308					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.H308H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGACAAACACGACTTTGAAG	0.428																																																	1	Substitution - coding silent(1)	large_intestine(1)											133	127	129					5																	32739001		1886	4121	6007	SO:0001819	synonymous_variant	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.924C>T	5.37:g.32739001C>T			A2RRD1|B4DT84|E7EPG9	Silent	SNP	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt	p.H308	ENST00000265074.8	37	c.924	CCDS56357.1	5																																																																																			NPR3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000113389		0.428	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3		0	33	0	C	NM_000908		32739001	1			no_errors	ENST00000265074	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.946	T	T	32739001	C	T	32739001	2	4	132	1	0	0	0	0	0	0	0	1	10635	535	19	1		1	NPR3	5	32739001	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	701623	32739001	148176259	37	33769											
C5orf42	65250	genome.wustl.edu	37	chr5	37198846	37198846	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacctcaactgcaatatataCcactgtgctacaggaaaaga	16	8	6	11	0	1	1	1	0	0	1	1	2	1	2	2	1	5	2	2	1	8	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:37198846C>A	ENST00000508244.1	-	19	3723	c.3630G>T	c.(3628-3630)tgG>tgT	p.W1210C	C5orf42_ENST00000425232.2_Missense_Mutation_p.W1210C|C5orf42_ENST00000274258.7_Missense_Mutation_p.W91C			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1210						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)			GCAATATATACCACTGTGCTA	0.393																																																	0													94	96	95					5																	37198846		2203	4300	6503	SO:0001583	missense	0				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.3630G>T	5.37:g.37198846C>A	ENSP00000421690:p.Trp1210Cys		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.W1210C	ENST00000508244.1	37	c.3630	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975235	0.92919	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.76709	-0.89;-0.89;-1.04;-1.02	5.28	5.28	0.74379	.	0.000000	0.45126	D	0.000382	D	0.83184	0.5199	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85181	0.1004	10	0.87932	D	0	.	19.2722	0.94015	0.0:1.0:0.0:0.0	.	1210;91	E9PH94;Q9H799	.;CE042_HUMAN	C	1210;1210;91;258;91	ENSP00000421690:W1210C;ENSP00000389014:W1210C;ENSP00000274258:W91C;ENSP00000424223:W258C	ENSP00000274258:W91C	W	-	3	0	C5orf42	37234603	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.539000	0.73856	2.626000	0.88956	0.655000	0.94253	TGG	C5orf42	-	NULL	ENSG00000197603		0.393	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0	54	0	C	NM_023073		37198846	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	37198846	C	A	37198846	3	1	132	1	0	0	0	0	1	0	0	0	2308	508	18	3	6095	3	C5orf42	5	37198846	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	4459845	37198846	143716414	38	33770											
PRKAA1	5562	genome.wustl.edu	37	chr5	40775593	40775593	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatatcagatggtgtactGatgacctggtacctggtgag	12	11	12	6	0	1	4	1	3	0	1	1	4	1	4	2	3	2	2	2	3	5	3	rs200384612		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:40775593G>A	ENST00000397128.2	-	3	290	c.282C>T	c.(280-282)atC>atT	p.I94I	PRKAA1_ENST00000354209.3_Silent_p.I94I|PRKAA1_ENST00000296800.4_Silent_p.I85I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	94	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.I94I(1)		breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	ATGGTGTACTGATGACCTGGT	0.338																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											114	100	105					5																	40775593		1845	4082	5927	SO:0001819	synonymous_variant	0				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.282C>T	5.37:g.40775593G>A			A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I94	ENST00000397128.2	37	c.282	CCDS3932.2	5																																																																																			PRKAA1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000132356		0.338	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA1	HGNC	protein_coding	OTTHUMT00000253833.2		0	24	0	G	NM_006251		40775593	-1			no_errors	ENST00000354209	ensembl	human	known	74_37	silent	6.82	41	3	SNP	1.000	A	A	40775593	G	A	40775593	2	1	132	1	0	0	0	0	0	0	0	1	12535	1280	45	3		3	PRKAA1	5	40775593	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	3576747	40775593	140139667	39	33771											
MOCS2	4338	genome.wustl.edu	37	chr5	52396306	52396306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcacagcttcaagagatgCagctctgtgggctgaggaca	10	8	13	10	0	3	2	2	1	1	1	3	4	3	3	0	2	3	5	0	2	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:52396306C>T	ENST00000396954.3	-	6	1113	c.436G>A	c.(436-438)Gca>Aca	p.A146T	MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000527216.1_3'UTR|MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000582677.1_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)				TCAAGAGATGCAGCTCTGTGG	0.398																																																	0													83	84	84					5																	52396306		2203	4300	6503	SO:0001583	missense	0			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.436G>A	5.37:g.52396306C>T	ENSP00000380157:p.Ala146Thr			Missense_Mutation	SNP	pfam_Mopterin_biosynth_MoaE,superfamily_Mopterin_biosynth_MoaE	p.A146T	ENST00000396954.3	37	c.436	CCDS3958.1	5	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245934	0.59103	.	.	ENSG00000164172	ENST00000396954;ENST00000527216	T	0.23147	1.92	5.65	4.77	0.60923	.	0.178199	0.49916	D	0.000134	T	0.29588	0.0738	L	0.58583	1.82	0.80722	D	1	B	0.21520	0.057	B	0.30029	0.11	T	0.05305	-1.0893	10	0.25106	T	0.35	-5.5703	15.1413	0.72612	0.1497:0.8503:0.0:0.0	.	146	O96007	MOC2B_HUMAN	T	146	ENSP00000380157:A146T	ENSP00000380157:A146T	A	-	1	0	MOCS2	52432063	0.993000	0.37304	0.987000	0.45799	0.995000	0.86356	2.755000	0.47540	1.483000	0.48342	0.655000	0.94253	GCA	MOCS2	-	pfam_Mopterin_biosynth_MoaE,superfamily_Mopterin_biosynth_MoaE	ENSG00000164172		0.398	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MOCS2	HGNC	protein_coding	OTTHUMT00000214053.3	-	0	36	0	C	NM_183418		52396306	-1	tier1	-	no_errors	ENST00000396954	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	52396306	C	T	52396306	3	4	132	1	0	0	0	0	1	0	0	0	9729	710	25	3	138	3	MOCS2	5	52396306	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	11620713	52396306	128518954	40	33772											
C5orf36	285600	genome.wustl.edu	37	chr5	93798218	93798218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaagtttctgtacagatGtacaaactgaccataacatg	16	11	6	8	0	2	2	1	1	1	1	2	2	2	2	1	0	4	3	1	0	6	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:93798218G>A	ENST00000513200.3	-	11	2192	c.2120C>T	c.(2119-2121)aCa>aTa	p.T707I	KIAA0825_ENST00000312498.7_Missense_Mutation_p.T707I|KIAA0825_ENST00000427991.2_Missense_Mutation_p.T707I	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	707										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						CTGTACAGATGTACAAACTGA	0.289																																																	0													114	98	103					5																	93798218		692	1588	2280	SO:0001583	missense	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.2120C>T	5.37:g.93798218G>A	ENSP00000424618:p.Thr707Ile		O94914|Q6ZNN2	Missense_Mutation	SNP	NULL	p.T707I	ENST00000513200.3	37	c.2120		5	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772679	0.31411	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498	T;T;T	0.45668	0.9;0.9;0.89	5.37	4.45	0.53987	.	0.347372	0.26362	N	0.024820	T	0.35068	0.0919	L	0.43152	1.355	0.20764	N	0.999852	P	0.49559	0.925	B	0.42422	0.387	T	0.32214	-0.9915	10	0.46703	T	0.11	.	10.4504	0.44518	0.0:0.2085:0.6754:0.1162	.	707	Q8IV33	K0825_HUMAN	I	707	ENSP00000424618:T707I;ENSP00000400288:T707I;ENSP00000312205:T707I	ENSP00000312205:T707I	T	-	2	0	KIAA0825	93823974	0.629000	0.27146	0.992000	0.48379	0.903000	0.53119	2.640000	0.46579	2.659000	0.90383	0.655000	0.94253	ACA	KIAA0825	-	NULL	ENSG00000185261		0.289	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000254102.5		0	20	0	G	NM_173665		93798218	-1			no_errors	ENST00000427991	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.895	A	A	93798218	G	A	93798218	3	1	132	1	0	0	0	0	1	0	0	0	2302	1377	48	3	1747	3	C5orf36	5	93798218	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	41401912	93798218	87117042	41	33773											
DMXL1	1657	genome.wustl.edu	37	chr5	118484613	118484613	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatggccattacttattGaagatggacttcagagcaat	15	11	9	6	0	1	4	1	1	0	3	1	5	1	5	1	2	2	1	1	2	6	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:118484613G>T	ENST00000311085.8	+	18	3171	c.3091G>T	c.(3091-3093)Gaa>Taa	p.E1031*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.E1031*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1031										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)		ATTACTTATTGAAGATGGACT	0.403																																																	0													145	136	139					5																	118484613		2202	4300	6502	SO:0001587	stop_gained	0			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.3091G>T	5.37:g.118484613G>T	ENSP00000309690:p.Glu1031*			Nonsense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1031*	ENST00000311085.8	37	c.3091	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	41	8.547326	0.98859	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.5	5.5	0.81552	.	0.044239	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-20.8566	19.7739	0.96383	0.0:0.0:1.0:0.0	.	.	.	.	X	1031	.	ENSP00000309690:E1031X	E	+	1	0	DMXL1	118512512	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.601000	0.82783	2.744000	0.94065	0.655000	0.94253	GAA	DMXL1	-	superfamily_WD40_repeat_dom	ENSG00000172869		0.403	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1		0	17	0	G	NM_005509		118484613	1			no_errors	ENST00000539542	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T	T	118484613	G	T	118484613	4	4	132	1	0	0	0	0	0	1	0	0	4608	1291	45	3	3161	3	DMXL1	5	118484613	Nonsense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	24686395	118484613	62430647	42	33774											
FBN2	2201	genome.wustl.edu	37	chr5	127866299	127866299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaacatacttgattttgatCcacaggttgatgatatttgc	12	15	8	6	0	0	4	0	4	0	0	1	5	1	4	1	1	3	1	1	1	3	7			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:127866299C>T	ENST00000508053.1	-	9	1399	c.425G>A	c.(424-426)gGa>gAa	p.G142E	FBN2_ENST00000262464.4_Missense_Mutation_p.G142E|FBN2_ENST00000508989.1_Intron			P35556	FBN2_HUMAN	fibrillin 2	142	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGATTTTGATCCACAGGTTGA	0.398																																																	0													110	100	103					5																	127866299		2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.425G>A	5.37:g.127866299C>T	ENSP00000424571:p.Gly142Glu		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G142E	ENST00000508053.1	37	c.425	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144650	0.57044	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000502468	D;D;T	0.83419	-1.72;-1.72;0.13	4.59	3.72	0.42706	.	0.297605	0.28665	N	0.014542	D	0.88407	0.6428	M	0.64997	1.995	0.51012	D	0.999906	D;D	0.76494	0.999;0.994	D;P	0.72982	0.979;0.881	D	0.86374	0.1725	10	0.23891	T	0.37	.	15.5037	0.75722	0.0:0.8607:0.1393:0.0	.	142;142	E9PHW4;P35556	.;FBN2_HUMAN	E	142	ENSP00000262464:G142E;ENSP00000424571:G142E;ENSP00000424753:G142E	ENSP00000262464:G142E	G	-	2	0	FBN2	127894198	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.859000	0.48364	1.528000	0.49103	0.655000	0.94253	GGA	FBN2	-	pirsf_FBN	ENSG00000138829		0.398	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	45	0	C	NM_001999		127866299	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	T	T	127866299	C	T	127866299	3	4	132	1	0	0	0	0	1	0	0	0	5725	855	30	3	8565	3	FBN2	5	127866299	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	9381686	127866299	53048961	43	33775											
PCDHA9	9752	genome.wustl.edu	37	chr5	140230375	140230375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctctggcgagggtaagcaGaagaccgacctcatggcctt	9	8	13	11	2	2	2	1	0	1	2	2	4	2	2	3	3	2	3	3	3	2	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:140230375G>A	ENST00000532602.1	+	1	3328	c.2295G>A	c.(2293-2295)caG>caA	p.Q765Q	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.Q765Q|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	765	5 X 4 AA repeats of P-X-X-P.				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)			AGGGTAAGCAGAAGACCGACC	0.617																																					Melanoma(55;1800 1972 14909)												0													87	86	87					5																	140230375		2198	4274	6472	SO:0001819	synonymous_variant	0			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.2295G>A	5.37:g.140230375G>A			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q765	ENST00000532602.1	37	c.2295	CCDS54920.1	5																																																																																			PCDHA9	-	NULL	ENSG00000204961		0.617	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0	81	0	G	NM_031857		140230375	1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	46.67	48	42	SNP	0.240	A	A	140230375	G	A	140230375	2	1	132	1	0	0	0	0	0	0	0	1	11570	933	33	3		3	PCDHA9	5	140230375	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	12364076	140230375	40684885	44	33776											
PCDHB3	56132	genome.wustl.edu	37	chr5	140481751	140481751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcttccctggtctccatCaacgcggacaacggccacct	7	9	7	18	3	3	0	1	0	2	0	6	1	4	1	4	3	2	0	4	3	2	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:140481751C>G	ENST00000231130.2	+	1	1518	c.1518C>G	c.(1516-1518)atC>atG	p.I506M	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			TGGTCTCCATCAACGCGGACA	0.672																																																	0													58	62	61					5																	140481751		2201	4296	6497	SO:0001583	missense	0			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.1518C>G	5.37:g.140481751C>G	ENSP00000231130:p.Ile506Met		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I506M	ENST00000231130.2	37	c.1518	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	7.365	0.625579	0.14257	.	.	ENSG00000113205	ENST00000231130	T	0.72615	-0.67	3.92	2.02	0.26589	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83013	0.5162	M	0.87381	2.88	0.29010	N	0.886909	D	0.89917	1.0	D	0.97110	1.0	T	0.73569	-0.3941	9	0.87932	D	0	.	6.3104	0.21161	0.0:0.3541:0.4781:0.1678	.	506	Q9Y5E6	PCDB3_HUMAN	M	506	ENSP00000231130:I506M	ENSP00000231130:I506M	I	+	3	3	PCDHB3	140461935	0.004000	0.15560	0.747000	0.31113	0.010000	0.07245	-0.914000	0.04038	0.220000	0.20860	-0.311000	0.09066	ATC	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113205		0.672	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0	257	0	C	NM_018937		140481751	1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	23.29	191	58	SNP	0.969	G	G	140481751	C	G	140481751	3	3	132	1	0	0	0	0	1	0	0	0	11582	816	29	5	1520	5	PCDHB3	5	140481751	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	251376	140481751	40433509	45	33777											
PCDHGC5	56097	genome.wustl.edu	37	chr5	140870755	140870755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtggtggtcctggtgaggGacaatggtgacccttcactc	7	10	15	9	0	1	2	1	2	0	0	3	3	2	3	2	6	0	0	2	6	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:140870755G>T	ENST00000252087.1	+	1	1948	c.1948G>T	c.(1948-1950)Gac>Tac	p.D650Y	PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	650	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGTGAGGGACaatggtga	0.572																																																	0													100	89	93					5																	140870755		2203	4300	6503	SO:0001583	missense	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1948G>T	5.37:g.140870755G>T	ENSP00000252087:p.Asp650Tyr		Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D650Y	ENST00000252087.1	37	c.1948	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539420	0.65085	.	.	ENSG00000240764	ENST00000252087	T	0.68903	-0.36	5.3	5.3	0.74995	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000033	D	0.88566	0.6471	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	0.91974	0.5589	10	0.87932	D	0	.	19.1415	0.93448	0.0:0.0:1.0:0.0	.	650;650	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	Y	650	ENSP00000252087:D650Y	ENSP00000252087:D650Y	D	+	1	0	PCDHGC5	140850939	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.610000	0.98337	2.753000	0.94483	0.655000	0.94253	GAC	PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240764		0.572	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	-	0	41	0	G	NM_018929		140870755	1	tier1	-	no_errors	ENST00000252087	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	T	T	140870755	G	T	140870755	3	4	132	1	0	0	0	0	1	0	0	0	11610	1174	41	3	1950	3	PCDHGC5	5	140870755	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	389004	140870755	40044505	46	33778											
ARAP3	64411	genome.wustl.edu	37	chr5	141033939	141033939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacttcctcatacactggctCctcgtacacaggctcctcca	8	11	5	17	1	1	0	1	0	0	0	6	0	5	0	4	2	3	3	4	2	3	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:141033939C>T	ENST00000239440.4	-	33	4278	c.4213G>A	c.(4213-4215)Gag>Aag	p.E1405K	FCHSD1_ENST00000522783.1_5'Flank|FCHSD1_ENST00000519800.1_5'Flank|FCHSD1_ENST00000435817.2_5'Flank|ARAP3_ENST00000513878.1_Missense_Mutation_p.E1054K|ARAP3_ENST00000508305.1_Missense_Mutation_p.E1236K|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1405					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TACACTGGCTCCTCGTACACA	0.567																																																	0													103	103	103					5																	141033939		2203	4300	6503	SO:0001583	missense	0			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4213G>A	5.37:g.141033939C>T	ENSP00000239440:p.Glu1405Lys		B4DIT1|D3DQE3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.E1405K	ENST00000239440.4	37	c.4213	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765636	0.69878	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.48836	0.8;0.8;0.8	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	L	0.34521	1.04	0.47737	D	0.999508	D;D;D	0.67145	0.993;0.996;0.993	D;D;D	0.76071	0.971;0.987;0.971	T	0.59595	-0.7425	10	0.46703	T	0.11	.	17.5927	0.88001	0.0:1.0:0.0:0.0	.	1054;1236;1405	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	K	1236;1405;1054	ENSP00000421826:E1236K;ENSP00000239440:E1405K;ENSP00000421468:E1054K	ENSP00000239440:E1405K	E	-	1	0	ARAP3	141014123	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	5.531000	0.67148	2.449000	0.82847	0.591000	0.81541	GAG	ARAP3	-	NULL	ENSG00000120318		0.567	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	-	0	45	0	C	NM_022481		141033939	-1	tier1	-	no_errors	ENST00000239440	ensembl	human	known	74_37	missense	20.00	56	14	SNP	1.000	T	T	141033939	C	T	141033939	3	4	132	1	0	0	0	0	1	0	0	0	840	864	30	3	425	3	ARAP3	5	141033939	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	163184	141033939	39881321	47	33779											
CYFIP2	26999	genome.wustl.edu	37	chr5	156727761	156727761	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgcagcgaggtgaagcgGctgtgccatgccgagcgcag	7	7	16	11	4	1	1	0	1	1	0	1	3	1	1	2	2	6	3	2	2	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:156727761G>T	ENST00000521420.1	+	5	439	c.348G>T	c.(346-348)cgG>cgT	p.R116R	CYFIP2_ENST00000318218.6_Silent_p.R142R|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Silent_p.R67R|CYFIP2_ENST00000377576.3_Silent_p.R142R|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000347377.6_Silent_p.R142R					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)			AGGTGAAGCGGCTGTGCCATG	0.597																																																	0													69	71	70					5																	156727761		2119	4255	6374	SO:0001819	synonymous_variant	0			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.348G>T	5.37:g.156727761G>T				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.R142	ENST00000521420.1	37	c.426		5																																																																																			CYFIP2	-	pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	ENSG00000055163		0.597	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1		0	21	0	G	NM_001037332		156727761	1			no_errors	ENST00000318218	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.122	T	T	156727761	G	T	156727761	2	4	132	1	0	0	0	0	0	0	0	1	4147	1190	42	3		3	CYFIP2	5	156727761	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	15693822	156727761	24187499	48	33780											
ADAM19	8728	genome.wustl.edu	37	chr5	156908845	156908845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggactgctgagggccagcaCcagggggccgcagtggggat	7	4	20	10	1	0	1	0	1	0	0	0	3	0	3	3	6	2	3	3	6	0	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr5:156908845C>A	ENST00000517905.1	-	22	2701	c.2657G>T	c.(2656-2658)gGt>gTt	p.G886V	ADAM19_ENST00000394020.1_Missense_Mutation_p.G888V|ADAM19_ENST00000430702.2_Intron|ADAM19_ENST00000257527.4_Missense_Mutation_p.G886V			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	886					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)			AGGGCCAGCACCAGGGGGCCG	0.697																																																	0													12	13	13					5																	156908845		2194	4294	6488	SO:0001583	missense	0			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.2657G>T	5.37:g.156908845C>A	ENSP00000428654:p.Gly886Val		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G888V	ENST00000517905.1	37	c.2663		5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.863|7.863	0.726423|0.726423	0.15439|0.15439	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T|.	0.01474|.	4.87;4.89;4.85|.	5.28|5.28	3.5|3.5	0.40072|0.40072	.|.	0.741456|.	0.12825|.	N|.	0.436061|.	T|T	0.18800|0.18800	0.0451|0.0451	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999997|0.999997	B;B|.	0.10296|.	0.003;0.001|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.23868|0.23868	-1.0176|-1.0176	10|5	0.27082|.	T|.	0.32|.	.|.	8.6324|8.6324	0.33928|0.33928	0.0809:0.3012:0.6179:0.0|0.0809:0.3012:0.6179:0.0	.|.	886;886|.	Q9H013-2;Q9H013|.	.;ADA19_HUMAN|.	V|L	886;888;886|457	ENSP00000257527:G886V;ENSP00000377588:G888V;ENSP00000428654:G886V|.	ENSP00000257527:G886V|.	G|V	-|-	2|1	0|0	ADAM19|ADAM19	156841423|156841423	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.182000|0.182000	0.16900|0.16900	0.626000|0.626000	0.30322|0.30322	-0.311000|-0.311000	0.09066|0.09066	GGT|GTG	ADAM19	-	NULL	ENSG00000135074		0.697	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	-	0	56	0	C	NM_033274		156908845	-1	tier1	-	no_errors	ENST00000394020	ensembl	human	known	74_37	missense	15.25	50	9	SNP	0.001	A	A	156908845	C	A	156908845	3	1	132	1	0	0	0	0	1	0	0	0	240	507	18	3	107	3	ADAM19	5	156908845	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	181084	156908845	24006415	49	33781											
FOXF2	2295	genome.wustl.edu	37	chr6	1390978	1390980	+	In_Frame_Del	DEL	CAC	CAC	-																															cccccagccacgcgcaccctCaccaccaccaccaccaccac																										TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	CAC	CAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:1390978_1390980delCAC	ENST00000259806.1	+	1	910_912	c.796_798delCAC	c.(796-798)cacdel	p.H272del		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	272	Poly-His.				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)		CGCGCACCCTcaccaccaccacc	0.768																																																	0										14,1482		3,8,737						-5.5	0.6			2	53,3199		10,33,1583	no	coding	FOXF2	NM_001452.1		13,41,2320	A1A1,A1R,RR		1.6298,0.9358,1.4111				67,4681				SO:0001651	inframe_deletion	0			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.796_798delCAC	6.37:g.1390987_1390989delCAC	ENSP00000259806:p.His272del		Q5TGJ1|Q9UQ85	In_Frame_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.H269in_frame_del	ENST00000259806.1	37	c.796_798	CCDS4472.1	6																																																																																			FOXF2	-	NULL	ENSG00000137273		0.768	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXF2	HGNC	protein_coding	OTTHUMT00000043558.1		0	16	0	CAC			1390980	1	tier1		no_errors	ENST00000259806	ensembl	human	known	74_37	in_frame_del	17.39	19	4	DEL	0.969:0.975:0.979	-	-	1390980	CAC	-	1390978	7	5	132	1	0	1	0	1	0	0	0	0	6030	826	29	0	798	0	FOXF2	6	1390978	In_Frame_Del	DEL	CAC	TCGA-LN-A9FO-01A-11D-A387-09		1390978	169724089	50	33782											
BMP6	654	genome.wustl.edu	37	chr6	7845488	7845488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaattccgcatctacaaGgactgtgttatggggagttt	10	12	12	7	1	1	1	0	0	1	1	2	3	2	3	1	3	1	4	1	3	4	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:7845488G>T	ENST00000283147.6	+	2	939	c.780G>T	c.(778-780)aaG>aaT	p.K260N		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	260					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCATCTACAAGGACTGTGTTA	0.468																																																	0													110	109	109					6																	7845488		2203	4300	6503	SO:0001583	missense	0			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.780G>T	6.37:g.7845488G>T	ENSP00000283147:p.Lys260Asn		Q5TCP3	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.K260N	ENST00000283147.6	37	c.780	CCDS4503.1	6	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888233	0.72524	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.67865	-0.29	5.41	3.62	0.41486	Transforming growth factor-beta, N-terminal (1);	0.098532	0.64402	D	0.000002	T	0.75583	0.3869	M	0.82132	2.575	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.79636	-0.1721	10	0.87932	D	0	.	11.0898	0.48108	0.149:0.0:0.851:0.0	.	260	P22004	BMP6_HUMAN	N	182;260;223	ENSP00000283147:K260N	ENSP00000283147:K260N	K	+	3	2	BMP6	7790487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.377000	0.59562	1.278000	0.44430	0.557000	0.71058	AAG	BMP6	-	pfam_TGF-b_N	ENSG00000153162		0.468	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP6	HGNC	protein_coding	OTTHUMT00000039794.1		0	45	0	G	NM_001718		7845488	1			no_errors	ENST00000283147	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	7845488	G	T	7845488	3	4	132	1	0	0	0	0	1	0	0	0	1466	991	35	3	786	3	BMP6	6	7845488	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	6454510	7845488	163269579	51	33783											
NUP153	9972	genome.wustl.edu	37	chr6	17706534	17706534	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttgtcgcccctgctggtAaggcttaattggcccctggt	4	13	12	12	1	0	0	0	0	0	0	1	0	0	0	4	4	1	4	4	4	2	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:17706534A>C	ENST00000262077.2	-	1	84	c.85T>G	c.(85-87)Tac>Gac	p.Y29D	RP11-500C11.3_ENST00000606771.1_RNA|NUP153_ENST00000537253.1_Missense_Mutation_p.Y29D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	29					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CCCTGCTGGTAAGGCTTAATT	0.721																																																	0													71	60	64					6																	17706534		2202	4299	6501	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.85T>G	6.37:g.17706534A>C	ENSP00000262077:p.Tyr29Asp		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.Y29D	ENST00000262077.2	37	c.85	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913488	0.72983	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.23754	1.89;1.96	4.33	4.33	0.51752	.	0.000000	0.31784	N	0.007065	T	0.16514	0.0397	L	0.48642	1.525	0.49915	D	0.99983	P;P;P	0.51933	0.949;0.828;0.538	P;B;B	0.45946	0.498;0.077;0.077	T	0.01982	-1.1235	10	0.87932	D	0	-5.3116	10.1843	0.42988	1.0:0.0:0.0:0.0	.	29;51;29	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	D	29;51;29	ENSP00000262077:Y29D;ENSP00000444029:Y29D	ENSP00000262077:Y29D	Y	-	1	0	NUP153	17814513	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.304000	0.43655	2.178000	0.69098	0.482000	0.46254	TAC	NUP153	-	NULL	ENSG00000124789		0.721	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	-	0	123	0	A			17706534	-1	tier1	-	no_errors	ENST00000537253	ensembl	human	known	74_37	missense	46.77	66	58	SNP	1.000	C	C	17706534	A	C	17706534	3	2	132	1	0	0	0	0	1	0	0	0	10794	362	13	4	4430	4	NUP153	6	17706534	Missense_Mutation	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	9861046	17706534	153408533	52	33784											
HIST1H2AB	8335	genome.wustl.edu	37	chr6	26033433	26033433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggccttatgatggctctCagttttcttaggcagcagca	7	14	10	10	0	2	1	1	1	2	0	3	1	2	1	1	3	2	5	1	3	2	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:26033433C>T	ENST00000259791.2	-	1	363	c.364G>A	c.(364-366)Gag>Aag	p.E122K	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGATGGCTCTCAGTTTTCTTA	0.488																																																	0													59	61	60					6																	26033433		2203	4300	6503	SO:0001583	missense	0			X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"Histones / Replication-dependent"	4734	protein-coding gene	gene with protein product		602795	"H2A histone family, member M", "histone 1, H2ab"	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.364G>A	6.37:g.26033433C>T	ENSP00000259791:p.Glu122Lys		P28001|Q76P63	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E122K	ENST00000259791.2	37	c.364	CCDS4574.1	6	.	.	.	.	.	.	.	.	.	.	c	14.98	2.696463	0.48202	.	.	ENSG00000137259	ENST00000259791	T	0.40225	1.04	5.35	5.35	0.76521	Histone-fold (2);Histone H2A (1);	0.000000	0.35646	U	0.003064	T	0.23806	0.0576	.	.	.	0.39607	D	0.969829	B	0.02656	0.0	B	0.01281	0.0	T	0.02639	-1.1130	9	0.39692	T	0.17	.	18.4224	0.90595	0.0:1.0:0.0:0.0	.	122	P04908	H2A1B_HUMAN	K	122	ENSP00000259791:E122K	ENSP00000259791:E122K	E	-	1	0	HIST1H2AB	26141412	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	5.660000	0.68018	2.648000	0.89879	0.561000	0.74099	GAG	HIST1H2AB	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000137259		0.488	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AB	HGNC	protein_coding	OTTHUMT00000040082.1	-	0	68	0	C	NM_003513		26033433	-1	tier1	-	no_errors	ENST00000259791	ensembl	human	known	74_37	missense	5.62	84	5	SNP	1.000	T	T	26033433	C	T	26033433	3	4	132	1	0	0	0	0	1	0	0	0	7156	835	29	3	32	3	HIST1H2AB	6	26033433	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	8326899	26033433	145081634	53	33785											
HIST1H1C	3006	genome.wustl.edu	37	chr6	26056024	26056024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggcgttcgcctatttcttCttgggcgccgccttcttagg	3	15	11	12	4	3	0	0	0	3	0	4	0	3	0	3	3	0	1	3	3	3	8			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:26056024C>T	ENST00000343677.2	-	1	675	c.633G>A	c.(631-633)aaG>aaA	p.K211K		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	211					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CCTATTTCTTCTTGGGCGCCG	0.488																																																	0													48	51	50					6																	26056024		2202	4300	6502	SO:0001819	synonymous_variant	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.633G>A	6.37:g.26056024C>T			A8K4I2	Silent	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K211	ENST00000343677.2	37	c.633	CCDS4577.1	6																																																																																			HIST1H1C	-	NULL	ENSG00000187837		0.488	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	-	0	52	0	C	NM_005319		26056024	-1	tier1	-	no_errors	ENST00000343677	ensembl	human	known	74_37	silent	42.50	23	17	SNP	1.000	T	T	26056024	C	T	26056024	2	4	132	1	0	0	0	0	0	0	0	1	7151	912	32	3		3	HIST1H1C	6	26056024	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	22591	26056024	145059043	54	33786											
ZSCAN23	222696	genome.wustl.edu	37	chr6	28402571	28402571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgaaggcccgcccacactCatcacattcataaggcttct	10	9	7	15	1	4	1	3	1	1	0	4	1	4	1	2	2	0	2	2	2	2	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:28402571C>T	ENST00000289788.4	-	4	986	c.841G>A	c.(841-843)Gag>Aag	p.E281K	ZSCAN23_ENST00000486481.1_5'Flank	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	281					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						CGCCCACACTCATCACATTCA	0.512																																																	0													82	74	76					6																	28402571		692	1591	2283	SO:0001583	missense	0			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.841G>A	6.37:g.28402571C>T	ENSP00000289788:p.Glu281Lys		Q96KV9	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E281K	ENST00000289788.4	37	c.841	CCDS47393.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942880	0.73672	.	.	ENSG00000187987	ENST00000289788	T	0.07327	3.2	4.17	4.17	0.49024	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.196393	0.26149	N	0.026044	T	0.05181	0.0138	L	0.39566	1.225	0.21416	N	0.999694	P	0.40909	0.732	P	0.44359	0.447	T	0.12553	-1.0543	10	0.54805	T	0.06	.	14.0077	0.64475	0.0:1.0:0.0:0.0	.	281	Q3MJ62	ZSC23_HUMAN	K	281	ENSP00000289788:E281K	ENSP00000289788:E281K	E	-	1	0	ZSCAN23	28510550	0.042000	0.20092	0.875000	0.34327	0.966000	0.64601	1.839000	0.39220	2.127000	0.65507	0.650000	0.86243	GAG	ZSCAN23	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187987		0.512	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2	-	0	50	0	C	XM_167147		28402571	-1	tier1	-	no_errors	ENST00000289788	ensembl	human	known	74_37	missense	47.06	36	32	SNP	0.655	T	T	28402571	C	T	28402571	3	4	132	1	0	0	0	0	1	0	0	0	18283	835	29	3	332	3	ZSCAN23	6	28402571	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	2346547	28402571	142712496	55	33787											
RDBP	7936	genome.wustl.edu	37	chr6	31922591	31922591	+	Silent	SNP	A	A	G	1	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	cagtcaaagcttcgagggggAccatcaccagcccctgggcc	9	5	12	15	1	2	0	2	0	0	0	3	2	2	1	5	3	2	1	5	3	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:31922591A>G	ENST00000375429.3	-	7	709	c.483T>C	c.(481-483)ggT>ggC	p.G161G	NELFE_ENST00000444811.2_Intron|NELFE_ENST00000375425.5_Silent_p.G168G|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	161					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|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)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TTCGAGGGGGACCATCACCAG	0.602																																																	0													72	81	78					6																	31922591		2203	4300	6503	SO:0001819	synonymous_variant	0			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.483T>C	6.37:g.31922591A>G			A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G161	ENST00000375429.3	37	c.483	CCDS4730.1	6																																																																																			NELFE	-	NULL	ENSG00000204356		0.602	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NELFE	HGNC	protein_coding	OTTHUMT00000076047.4		0	22	0	A			31922591	-1			no_errors	ENST00000375429	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.508	G	G	31922591	A	G	31922591	2	3	132	1	0	0	0	0	0	0	0	1	13233	262	10	4		4	RDBP	6	31922591	Silent	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	3520020	31922591	139192476	56	33788											
FKBPL	63943	genome.wustl.edu	37	chr6	32097535	32097535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtccttttctccaattGtattgactggtggcgtctcc	5	16	10	10	1	2	1	0	1	2	0	5	1	3	1	3	3	0	1	3	3	2	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:32097535G>T	ENST00000375156.3	-	2	293	c.23C>A	c.(22-24)aCa>aAa	p.T8K	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	8					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										TTCTCCAATTGTATTGACTGG	0.498																																																	0													30	33	32					6																	32097535		2196	4296	6492	SO:0001583	missense	0			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.23C>A	6.37:g.32097535G>T	ENSP00000364298:p.Thr8Lys		A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T8K	ENST00000375156.3	37	c.23	CCDS4738.1	6	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139686	0.37728	.	.	ENSG00000204315	ENST00000375156	T	0.80304	-1.36	5.24	2.39	0.29439	.	1.570140	0.04009	N	0.297927	T	0.43523	0.1251	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.41556	-0.9502	10	0.56958	D	0.05	0.1297	5.0382	0.14445	0.178:0.0:0.6558:0.1661	.	8	Q9UIM3	FKBPL_HUMAN	K	8	ENSP00000364298:T8K	ENSP00000364298:T8K	T	-	2	0	FKBPL	32205513	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.217000	0.09253	0.749000	0.32854	0.462000	0.41574	ACA	FKBPL	-	NULL	ENSG00000204315		0.498	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBPL	HGNC	protein_coding	OTTHUMT00000076221.2	-	0	37	0	G			32097535	-1	tier1	-	no_errors	ENST00000375156	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.000	T	T	32097535	G	T	32097535	3	4	132	1	0	0	0	0	1	0	0	0	5938	1377	48	3	1030	3	FKBPL	6	32097535	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	174944	32097535	139017532	57	33789											
DAXX	1616	genome.wustl.edu	37	chr6	33286968	33286968	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatctttttcccattcttctCatgcactgacctttgccttt	5	20	3	13	0	3	1	1	1	3	0	5	1	4	1	3	0	2	1	3	0	1	7			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:33286968C>G	ENST00000374542.5	-	7	2173	c.1969G>C	c.(1969-1971)Gag>Cag	p.E657Q	DAXX_ENST00000266000.6_Missense_Mutation_p.E657Q|ZBTB22_ENST00000431845.2_5'Flank|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.E582Q|DAXX_ENST00000477162.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	657	Interaction with SPOP.				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						CCATTCTTCTCATGCACTGAC	0.542			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													94	99	97					6																	33286968		2203	4300	6503	SO:0001583	missense	0			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.1969G>C	6.37:g.33286968C>G	ENSP00000363668:p.Glu657Gln		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	pfam_Daxx	p.E657Q	ENST00000374542.5	37	c.1969	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.042755	0.00402	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.47	0.282	0.15692	.	1.055030	0.07462	N	0.900756	T	0.04003	0.0112	N	0.02736	-0.51	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12837	0.008;0.006	T	0.40794	-0.9544	9	0.17369	T	0.5	-4.0447	4.8067	0.13323	0.0:0.3857:0.3961:0.2182	.	669;657	B4E1C1;Q9UER7	.;DAXX_HUMAN	Q	657;657;582	.	ENSP00000266000:E657Q	E	-	1	0	DAXX	33394946	0.000000	0.05858	0.002000	0.10522	0.116000	0.19942	0.372000	0.20467	0.138000	0.18790	0.579000	0.79373	GAG	DAXX	-	pfam_Daxx	ENSG00000204209		0.542	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	HGNC	protein_coding	OTTHUMT00000076403.1	-	0	27	0	C			33286968	-1	tier1	-	no_errors	ENST00000266000	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	G	G	33286968	C	G	33286968	3	3	132	1	0	0	0	0	1	0	0	0	4252	835	29	5	261	5	DAXX	6	33286968	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	1189433	33286968	137828099	58	33790											
C6orf222	389384	genome.wustl.edu	37	chr6	36290146	36290146	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgtgtggcctctagcctgGgagggtgcttctgagatcac	5	10	16	10	1	3	1	1	1	2	1	3	3	3	2	2	4	2	1	2	4	1	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:36290146G>T	ENST00000437635.2	-	9	1722	c.1545C>A	c.(1543-1545)tcC>tcA	p.S515S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	515										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTCTAGCCTGGGAGGGTGCTT	0.577																																																	0													135	110	119					6																	36290146		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1545C>A	6.37:g.36290146G>T			B2RTY8	Silent	SNP	NULL	p.S515	ENST00000437635.2	37	c.1545	CCDS34439.1	6																																																																																			C6orf222	-	NULL	ENSG00000189325		0.577	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf222	HGNC	protein_coding	OTTHUMT00000040338.2		0	62	0	G	NM_001010903		36290146	-1			no_errors	ENST00000437635	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.713	T	T	36290146	G	T	36290146	2	4	132	1	0	0	0	0	0	0	0	1	2363	1219	43	3		3	C6orf222	6	36290146	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	3003178	36290146	134824921	59	33791											
GCM1	8521	genome.wustl.edu	37	chr6	52993048	52993048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatatcattgttgcagtGatccaaacccaagtatgtca	14	11	7	9	0	2	1	2	1	0	0	3	1	3	1	2	0	3	4	2	0	5	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:52993048G>T	ENST00000259803.7	-	6	1478	c.1267C>A	c.(1267-1269)Cac>Aac	p.H423N	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	423					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)	p.H423N(1)		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)					TTGTTGCAGTGATCCAAACCC	0.458																																																	1	Substitution - Missense(1)	lung(1)											221	222	222					6																	52993048		2203	4300	6503	SO:0001583	missense	0			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.1267C>A	6.37:g.52993048G>T	ENSP00000259803:p.His423Asn		Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.H423N	ENST00000259803.7	37	c.1267	CCDS4950.1	6	.	.	.	.	.	.	.	.	.	.	G	7.861	0.726017	0.15439	.	.	ENSG00000137270	ENST00000259803	T	0.74106	-0.81	5.82	4.02	0.46733	.	0.172920	0.41294	D	0.000918	T	0.40570	0.1122	L	0.34521	1.04	0.25402	N	0.988434	P	0.38335	0.627	B	0.34722	0.188	T	0.33214	-0.9877	10	0.66056	D	0.02	-15.3325	5.1125	0.14817	0.2075:0.1687:0.6239:0.0	.	423	Q9NP62	GCM1_HUMAN	N	423	ENSP00000259803:H423N	ENSP00000259803:H423N	H	-	1	0	GCM1	53101007	1.000000	0.71417	0.993000	0.49108	0.055000	0.15305	2.269000	0.43346	0.795000	0.33922	-0.136000	0.14681	CAC	GCM1	-	NULL	ENSG00000137270		0.458	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM1	HGNC	protein_coding	OTTHUMT00000040953.1		0	25	0	G			52993048	-1			no_errors	ENST00000259803	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.787	T	T	52993048	G	T	52993048	3	4	132	1	0	0	0	0	1	0	0	0	6322	1290	45	3	47	3	GCM1	6	52993048	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	16702902	52993048	118122019	60	33792											
DST	667	genome.wustl.edu	37	chr6	56417998	56417998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaattctctccttcagcagGatccaagcaaaattttattt	13	14	5	9	0	2	1	1	0	1	1	5	2	4	2	2	1	2	2	2	1	5	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:56417998G>A	ENST00000361203.3	-	57	14966	c.14959C>T	c.(14959-14961)Cct>Tct	p.P4987S	DST_ENST00000244364.6_Missense_Mutation_p.P2575S|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.P2901S|DST_ENST00000421834.2_Missense_Mutation_p.P2901S|DST_ENST00000370769.4_Missense_Mutation_p.P4989S|DST_ENST00000446842.2_Missense_Mutation_p.P4663S|DST_ENST00000370754.5_Missense_Mutation_p.P5167S			Q03001	DYST_HUMAN	dystonin	4987					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)			CCTTCAGCAGGATCCAAGCAA	0.398																																																	0													181	184	183					6																	56417998		1842	4075	5917	SO:0001583	missense	0			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.14959C>T	6.37:g.56417998G>A	ENSP00000354508:p.Pro4987Ser		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.P5167S	ENST00000361203.3	37	c.15499		6	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500324	0.44455	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.76	5.76	0.90799	.	0.000000	0.52532	D	0.000071	T	0.19446	0.0467	M	0.66939	2.045	0.27210	N	0.95994	P;B;B;P;B	0.39391	0.671;0.354;0.354;0.651;0.313	B;B;B;B;B	0.36092	0.202;0.217;0.217;0.084;0.126	T	0.06250	-1.0837	9	0.09843	T	0.71	.	13.5255	0.61593	0.0713:0.0:0.9287:0.0	.	2901;4989;5167;4987;2575	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	S	2575;5167;4989;2901;4663;2901;4987	ENSP00000244364:P2575S;ENSP00000359790:P5167S;ENSP00000359805:P4989S;ENSP00000400883:P2901S;ENSP00000393645:P4663S;ENSP00000359824:P2901S;ENSP00000354508:P4987S	ENSP00000244364:P2575S	P	-	1	0	DST	56525957	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.629000	0.74267	2.882000	0.98803	0.655000	0.94253	CCT	DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0	44	0	G	NM_001723		56417998	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	56417998	G	A	56417998	3	1	132	1	0	0	0	0	1	0	0	0	4797	1174	41	3	7964	3	DST	6	56417998	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	3424950	56417998	114697069	61	33793											
DST	667	genome.wustl.edu	37	chr6	56480403	56480403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtggaaatcaaaatcaGctttttctaaggcttcttta	11	16	7	7	0	4	0	2	0	2	0	4	1	4	1	0	2	1	2	0	2	5	6			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:56480403G>T	ENST00000370765.6	-	24	7969	c.7862C>A	c.(7861-7863)gCt>gAt	p.A2621D	DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1917					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)			ATCAAAATCAGCTTTTTCTAA	0.358																																																	0													107	113	111					6																	56480403		2203	4300	6503	SO:0001583	missense	0			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.7862C>A	6.37:g.56480403G>T	ENSP00000359801:p.Ala2621Asp		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.A2621D	ENST00000370765.6	37	c.7862	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774625	0.49786	.	.	ENSG00000151914	ENST00000370765	T	0.66995	-0.24	5.94	5.94	0.96194	.	.	.	.	.	T	0.68851	0.3046	.	.	.	0.19300	N	0.99998	D	0.57571	0.98	P	0.51229	0.663	T	0.67968	-0.5533	7	0.45353	T	0.12	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	2621	Q03001-3	.	D	2621	ENSP00000359801:A2621D	ENSP00000359801:A2621D	A	-	2	0	DST	56588362	1.000000	0.71417	0.974000	0.42286	0.996000	0.88848	7.018000	0.76406	2.822000	0.97130	0.557000	0.71058	GCT	DST	-	smart_Plectin_repeat	ENSG00000151914		0.358	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	-	0	49	0	G	NM_001723		56480403	-1	tier1	-	no_errors	ENST00000370765	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.997	T	T	56480403	G	T	56480403	3	4	132	1	0	0	0	0	1	0	0	0	4797	971	34	3	12537	3	DST	6	56480403	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	62405	56480403	114634664	62	33794											
HIVEP2	3097	genome.wustl.edu	37	chr6	143081380	143081380	+	Silent	SNP	T	T	C	0	1	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	atacaactaggtatgtccaaTctgtctttgtctggttctga	9	16	8	8	0	4	1	0	1	4	0	5	1	5	1	1	2	2	2	1	2	5	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:143081380T>C	ENST00000367604.1	-	8	6684	c.6045A>G	c.(6043-6045)agA>agG	p.R2015R	HIVEP2_ENST00000367603.2_Silent_p.R2015R|HIVEP2_ENST00000012134.2_Silent_p.R2015R			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2015					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)		GTATGTCCAATCTGTCTTTGT	0.488																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													293	269	277					6																	143081380		1978	4168	6146	SO:0001819	synonymous_variant	0			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.6045A>G	6.37:g.143081380T>C			Q02646|Q5THT5|Q9NS05	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2015	ENST00000367604.1	37	c.6045	CCDS43510.1	6																																																																																			HIVEP2	-	NULL	ENSG00000010818		0.488	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	-	0	23	0	T			143081380	-1	tier1	-	no_errors	ENST00000012134	ensembl	human	known	74_37	silent	51.16	21	22	SNP	0.878	C	C	143081380	T	C	143081380	2	2	132	1	0	0	0	0	0	0	0	1	7214	1432	50	4		4	HIVEP2	6	143081380	Silent	SNP	T	TCGA-LN-A9FO-01A-11D-A387-09	86600977	143081380	28033687	63	33795											
RMND1	55005	genome.wustl.edu	37	chr6	151766902	151766902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgatgtgcttttgataaTatatgatgagatctggccac	11	14	9	7	0	1	4	0	4	1	1	1	5	1	4	1	1	1	1	1	1	3	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:151766902T>C	ENST00000367303.4	-	2	167	c.45A>G	c.(43-45)atA>atG	p.I15M	RMND1_ENST00000336451.3_5'Flank|RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	15					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)		CTTTTGATAATATATGATGAG	0.378																																																	0													39	35	37					6																	151766902		2203	4300	6503	SO:0001583	missense	0			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.45A>G	6.37:g.151766902T>C	ENSP00000356272:p.Ile15Met		A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	pfam_DUF155	p.I15M	ENST00000367303.4	37	c.45	CCDS5232.1	6	.	.	.	.	.	.	.	.	.	.	T	11.90	1.775354	0.31411	.	.	ENSG00000155906	ENST00000367303	T	0.49139	0.79	5.57	1.81	0.25067	.	1.003620	0.08025	N	0.992596	T	0.23688	0.0573	L	0.29908	0.895	0.19945	N	0.999949	P;B	0.48016	0.904;0.435	P;B	0.48921	0.595;0.127	T	0.14309	-1.0477	10	0.59425	D	0.04	-4.3317	5.5816	0.17252	0.6782:0.0:0.1:0.2218	.	15;15	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	M	15	ENSP00000356272:I15M	ENSP00000356272:I15M	I	-	3	3	RMND1	151808595	0.163000	0.22920	0.007000	0.13788	0.025000	0.11179	0.356000	0.20181	0.069000	0.16605	0.460000	0.39030	ATA	RMND1	-	NULL	ENSG00000155906		0.378	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND1	HGNC	protein_coding	OTTHUMT00000042718.2	-	0	21	0	T	NM_017909		151766902	-1	tier1	-	no_errors	ENST00000367303	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.106	C	C	151766902	T	C	151766902	3	2	132	1	0	0	0	0	1	0	0	0	13441	1396	49	4	1348	4	RMND1	6	151766902	Missense_Mutation	SNP	T	TCGA-LN-A9FO-01A-11D-A387-09	8685522	151766902	19348165	64	33796											
THBS2	7058	genome.wustl.edu	37	chr6	169637866	169637866	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtccactctgcccacggaGaccagccctcctcaccgtcc	6	6	9	20	2	2	1	1	0	1	1	5	2	5	1	7	2	2	0	7	2	0	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr6:169637866G>C	ENST00000366787.3	-	9	1403	c.1154C>G	c.(1153-1155)tCt>tGt	p.S385C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	385	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			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)		TGCCCACGGAGACCAGCCCTC	0.657																																					Esophageal Squamous(91;219 1934 18562 44706)												0													74	57	63					6																	169637866		2203	4299	6502	SO:0001583	missense	0				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.1154C>G	6.37:g.169637866G>C	ENSP00000355751:p.Ser385Cys		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.S385C	ENST00000366787.3	37	c.1154	CCDS34574.1	6	.	.	.	.	.	.	.	.	.	.	g	20.9	4.068782	0.76301	.	.	ENSG00000186340	ENST00000366787	T	0.61274	0.12	4.75	4.75	0.60458	.	0.000000	0.39687	U	0.001291	T	0.73776	0.3630	H	0.98407	4.225	0.52501	D	0.999957	P	0.35844	0.524	B	0.42112	0.376	T	0.83239	-0.0059	10	0.87932	D	0	-32.2284	17.77	0.88489	0.0:0.0:1.0:0.0	.	385	P35442	TSP2_HUMAN	C	385	ENSP00000355751:S385C	ENSP00000355751:S385C	S	-	2	0	THBS2	169379791	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.193000	0.94954	2.181000	0.69327	0.552000	0.68991	TCT	THBS2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000186340		0.657	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	-	0	85	0	G	NM_003247		169637866	-1	tier1	-	no_errors	ENST00000366787	ensembl	human	known	74_37	missense	15.85	69	13	SNP	1.000	C	C	169637866	G	C	169637866	3	2	132	1	0	0	0	0	1	0	0	0	15901	942	33	5	2424	5	THBS2	6	169637866	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	17870964	169637866	1477201	65	33797											
GNA12	2768	genome.wustl.edu	37	chr7	2770886	2770886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agcatggaacacgaagcggaCgttctcggtgtcgatggcgg	9	7	16	9	6	1	0	0	0	1	0	3	4	1	2	0	5	3	2	0	5	2	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr7:2770886C>T	ENST00000275364.3	-	4	1237	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	GNA12_ENST00000407653.1_Missense_Mutation_p.V283I|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_Missense_Mutation_p.V300I|GNA12_ENST00000396960.3_Missense_Mutation_p.V211I|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000544127.1_Missense_Mutation_p.V266I	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	359					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		ACGAAGCGGACGTTCTCGGTG	0.587																																																	0													139	137	138					7																	2770886		2203	4300	6503	SO:0001583	missense	0			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.1075G>A	7.37:g.2770886C>T	ENSP00000275364:p.Val359Ile		A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12	p.V359I	ENST00000275364.3	37	c.1075	CCDS5335.1	7	.	.	.	.	.	.	.	.	.	.	C	4.985	0.183019	0.09495	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000407653;ENST00000396960;ENST00000544127	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	5.79	4.65	0.58169	.	0.150474	0.64402	N	0.000016	T	0.58949	0.2158	N	0.00152	-1.975	0.32855	D	0.507195	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.62445	-0.6853	10	0.02654	T	1	.	11.0969	0.48150	0.0:0.0733:0.0:0.9267	.	359;359;300	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	I	359;300;283;211;266	ENSP00000275364:V359I;ENSP00000385935:V300I;ENSP00000386054:V283I;ENSP00000380160:V211I;ENSP00000437469:V266I	ENSP00000275364:V359I	V	-	1	0	GNA12	2737412	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	6.171000	0.71926	1.033000	0.39918	-0.302000	0.09304	GTC	GNA12	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000146535		0.587	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA12	HGNC	protein_coding	OTTHUMT00000241608.1	-	0	35	0	C	NM_007353		2770886	-1	tier1	-	no_errors	ENST00000275364	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	2770886	C	T	2770886	3	4	132	1	0	0	0	0	1	0	0	0	6526	536	19	1	74	1	GNA12	7	2770886	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09		2770886	156367777	66	33798											
EIF2AK1	27102	genome.wustl.edu	37	chr7	6066493	6066493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggagggattccggcaactGaccagttcttaaacctgtta	11	10	10	10	2	1	1	0	1	1	0	2	3	2	3	3	3	2	3	3	3	4	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr7:6066493G>T	ENST00000199389.6	-	14	1776	c.1630C>A	c.(1630-1632)Cag>Aag	p.Q544K	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.Q420K	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	544	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)		TCCGGCAACTGACCAGTTCTT	0.488																																																	0													130	121	124					7																	6066493		2203	4300	6503	SO:0001583	missense	0			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.1630C>A	7.37:g.6066493G>T	ENSP00000199389:p.Gln544Lys		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q544K	ENST00000199389.6	37	c.1630	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	G	7.093	0.572589	0.13623	.	.	ENSG00000086232	ENST00000199389;ENST00000536084	T;T	0.63580	-0.05;-0.05	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.743599	0.13511	N	0.382534	T	0.35508	0.0934	N	0.02775	-0.495	0.18873	N	0.999984	B;B;B	0.18166	0.026;0.012;0.008	B;B;B	0.20384	0.029;0.008;0.026	T	0.05273	-1.0895	10	0.05721	T	0.95	-4.0374	13.3688	0.60701	0.0:0.0:0.7247:0.2752	.	420;543;544	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	K	544;420	ENSP00000199389:Q544K;ENSP00000445784:Q420K	ENSP00000199389:Q544K	Q	-	1	0	EIF2AK1	6033019	0.996000	0.38824	0.112000	0.21494	0.990000	0.78478	3.713000	0.54882	2.711000	0.92665	0.655000	0.94253	CAG	EIF2AK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000086232		0.488	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	-	0	35	0	G	NM_014413		6066493	-1	tier1	-	no_errors	ENST00000199389	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.472	T	T	6066493	G	T	6066493	3	4	132	1	0	0	0	0	1	0	0	0	5010	1299	45	3	270	3	EIF2AK1	7	6066493	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	3295607	6066493	153072170	67	33799											
RAPGEF5	9771	genome.wustl.edu	37	chr7	22233043	22233043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaaaggtgctccaaaatCttctccggggtcccggacac	10	9	9	13	2	3	0	1	0	2	0	6	1	5	1	3	4	1	1	3	4	4	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr7:22233043C>T	ENST00000401957.2	-	1	484	c.237G>A	c.(235-237)aaG>aaA	p.K79K	RAPGEF5_ENST00000344041.6_Silent_p.K229K|RAPGEF5_ENST00000405243.1_3'UTR|RAPGEF5_ENST00000475788.1_5'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	79	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						GCTCCAAAATCTTCTCCGGGG	0.522																																																	0													71	71	71					7																	22233043		1906	4129	6035	SO:0001819	synonymous_variant	0			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.237G>A	7.37:g.22233043C>T			A4D140|Q8IXU5	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.K229	ENST00000401957.2	37	c.687		7																																																																																			RAPGEF5	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000136237		0.522	RAPGEF5-001	KNOWN	basic	protein_coding	RAPGEF5	HGNC	protein_coding	OTTHUMT00000326590.2	-	0	31	0	C	NM_012294		22233043	-1	tier1	-	no_errors	ENST00000344041	ensembl	human	known	74_37	silent	32.43	24	12	SNP	1.000	T	T	22233043	C	T	22233043	2	4	132	1	0	0	0	0	0	0	0	1	13092	912	32	3		3	RAPGEF5	7	22233043	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	16166550	22233043	136905620	68	33800											
SUMF2	5260	genome.wustl.edu	37	chr7	56145799	56145799	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctttctcccatcagggaaAgttccccaagggagacaaag	12	8	9	12	0	2	1	1	0	1	1	5	3	4	2	4	2	0	1	4	2	3	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr7:56145799A>G	ENST00000297373.2	-	0	1431				SUMF2_ENST00000275607.9_Missense_Mutation_p.K111R|SUMF2_ENST00000413756.1_Missense_Mutation_p.K199R|SUMF2_ENST00000395436.2_Missense_Mutation_p.K203R|SUMF2_ENST00000342190.6_Missense_Mutation_p.K218R|SUMF2_ENST00000434526.2_Missense_Mutation_p.K218R|SUMF2_ENST00000437307.2_Missense_Mutation_p.K130R|SUMF2_ENST00000395435.2_Missense_Mutation_p.K134R	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CATCAGGGAAAGTTCCCCAAG	0.522																																					Melanoma(184;580 2064 5329 24177 35303)												0													125	109	115					7																	56145799		2203	4300	6503	SO:0001628	intergenic_variant	0			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56145799A>G			B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.K218R	ENST00000297373.2	37	c.653	CCDS5525.1	7	.	.	.	.	.	.	.	.	.	.	A	2.318	-0.356382	0.05138	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000395435;ENST00000413952;ENST00000342190;ENST00000437307;ENST00000413756;ENST00000451338	D;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;-3.49	5.32	-1.59	0.08453	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	1.032470	0.07601	N	0.923713	D	0.85940	0.5814	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.19331	0.035;0.008;0.0;0.001;0.016	B;B;B;B;B	0.15484	0.013;0.006;0.001;0.004;0.012	T	0.72204	-0.4361	10	0.12766	T	0.61	-17.1671	7.0417	0.25023	0.5196:0.3432:0.1371:0.0	.	115;203;221;199;218	Q8NBJ7-5;A8MXB9;E7EMF9;Q8NBJ7;F8WA42	.;.;.;SUMF2_HUMAN;.	R	203;218;111;134;221;218;130;199;216	ENSP00000378824:K203R;ENSP00000400922:K218R;ENSP00000275607:K111R;ENSP00000378823:K134R;ENSP00000414434:K221R;ENSP00000341938:K218R;ENSP00000415989:K130R;ENSP00000406445:K199R;ENSP00000410796:K216R	ENSP00000275607:K111R	K	+	2	0	SUMF2	56113293	0.000000	0.05858	0.282000	0.24776	0.065000	0.16274	0.162000	0.16501	-0.476000	0.06842	-1.431000	0.01090	AAG	SUMF2	-	pfam_FGE_dom,superfamily_C-type_lectin_fold	ENSG00000129103		0.522	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF2	HGNC	protein_coding	OTTHUMT00000251587.1	-	0	44	0	A	NM_006213		56145799	1	tier1	-	no_errors	ENST00000342190	ensembl	human	known	74_37	missense	37.50	35	21	SNP	0.001	G	G	56145799	A	G	56145799	1	3	132	0	1	0	0	0	0	0	0	0	15433	72	3	4		4	SUMF2	7	56145799	IGR	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	33912756	56145799	102992864	69	33801											
POMZP3	22932	genome.wustl.edu	37	chr7	76254993	76254993	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgttgagctgattatctGctctggtctataatgaaaga	11	14	10	6	0	3	4	0	3	3	1	3	4	3	4	0	1	2	3	0	1	4	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr7:76254993G>A	ENST00000310842.4	-	3	757	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	POMZP3_ENST00000275569.4_Nonsense_Mutation_p.Q25*|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	25										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				CTGATTATCTGCTCTGGTCTA	0.413																																																	0													194	180	185					7																	76254993		2203	4300	6503	SO:0001587	stop_gained	0			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.73C>T	7.37:g.76254993G>A	ENSP00000309233:p.Gln25*		F6STJ3|Q12903|Q9BWB4	Nonsense_Mutation	SNP	pfam_ZP_dom	p.Q25*	ENST00000310842.4	37	c.73	CCDS43606.1	7	.	.	.	.	.	.	.	.	.	.	g	39	7.649029	0.98412	.	.	ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397	.	.	.	0.694	0.694	0.18062	.	0.120055	0.56097	U	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	4.8171	0.13372	0.0:0.0:1.0:0.0	.	.	.	.	X	25	.	ENSP00000275569:Q25X	Q	-	1	0	POMZP3	76092929	0.984000	0.35163	0.078000	0.20375	0.763000	0.43281	2.269000	0.43346	0.690000	0.31570	0.472000	0.43445	CAG	POMZP3	-	NULL	ENSG00000146707		0.413	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMZP3	HGNC	protein_coding	OTTHUMT00000341775.1	-	0	95	0	G	NM_012230		76254993	-1	tier1	-	no_errors	ENST00000310842	ensembl	human	known	74_37	nonsense	29.49	107	46	SNP	0.116	A	A	76254993	G	A	76254993	4	1	132	1	0	0	0	0	0	1	0	0	12286	1328	46	3	513	3	POMZP3	7	76254993	Nonsense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	20109194	76254993	82883670	70	33802											
PCLO	27445	genome.wustl.edu	37	chr7	82583637	82583637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatcatgtccactggctctGtataaactgtggttatgcta	9	16	8	8	0	2	0	1	0	1	0	3	0	3	0	1	2	2	4	1	2	6	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr7:82583637G>A	ENST00000333891.9	-	5	6969	c.6632C>T	c.(6631-6633)aCa>aTa	p.T2211I	PCLO_ENST00000423517.2_Missense_Mutation_p.T2211I	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						CACTGGCTCTGTATAAACTGT	0.398																																																	0													75	70	72					7																	82583637		1898	4132	6030	SO:0001583	missense	0			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.6632C>T	7.37:g.82583637G>A	ENSP00000334319:p.Thr2211Ile			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.T2211I	ENST00000333891.9	37	c.6632	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	8.131	0.783013	0.16189	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16897	2.31;2.31	5.77	5.77	0.91146	.	.	.	.	.	T	0.11623	0.0283	N	0.22421	0.69	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.12156	0.007;0.005	T	0.08617	-1.0713	9	0.87932	D	0	.	6.7449	0.23456	0.1117:0.1773:0.711:0.0	.	2211;2211	Q9Y6V0-5;Q9Y6V0-6	.;.	I	2142;2211;2211	ENSP00000334319:T2211I;ENSP00000388393:T2211I	ENSP00000334319:T2211I	T	-	2	0	PCLO	82421573	0.519000	0.26242	0.997000	0.53966	0.980000	0.70556	1.908000	0.39907	2.724000	0.93272	0.650000	0.86243	ACA	PCLO	-	NULL	ENSG00000186472		0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5		0	18	0	G	NM_014510		82583637	-1			no_errors	ENST00000333891	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.987	A	A	82583637	G	A	82583637	3	1	132	1	0	0	0	0	1	0	0	0	11622	1377	48	3	8897	3	PCLO	7	82583637	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	6328644	82583637	76555026	71	33803											
SSPO	23145	genome.wustl.edu	37	chr7	149486300	149486300	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagatgacttgcagctccGgccactgcctgcccctggcc	5	7	12	17	1	0	2	0	1	0	1	1	2	1	2	6	3	4	3	6	3	0	1	rs540269082		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr7:149486300G>T	ENST00000378016.2	+	0	4276							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)			TTGCAGCTCCGGCCACTGCCT	0.667																																																	0													20	25	23					7																	149486300		2166	4261	6427			0			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.149486300G>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.667	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	40	0	G			149486300	1	tier1	-	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	35.85	34	19	SNP	0.826	T	T	149486300	G	T	149486300	1	4	132	0	1	0	0	0	0	0	0	0	15236	1116	39	2		2	SSPO	7	149486300	RNA	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	66902663	149486300	9652363	72	33804											
NEFM	4741	genome.wustl.edu	37	chr8	24771823	24771823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgagaaggctcaggtgcagCtggactcggaccacctggag	10	5	15	11	2	1	1	1	0	0	1	2	5	1	4	2	5	2	3	2	5	1	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr8:24771823C>T	ENST00000221166.5	+	1	1299	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Silent_p.L173L|NEFM_ENST00000518131.1_Silent_p.L173L			P07197	NFM_HUMAN	neurofilament, medium polypeptide	173	Coil 1B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCAGGTGCAGCTGGACTCGGA	0.682																																																	0													36	38	37					8																	24771823		2202	4299	6501	SO:0001819	synonymous_variant	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.517C>T	8.37:g.24771823C>T			B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.L173	ENST00000221166.5	37	c.517	CCDS6046.1	8																																																																																			NEFM	-	pfam_IF	ENSG00000104722		0.682	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	-	0	62	0	C	NM_005382		24771823	1	tier1	-	no_errors	ENST00000221166	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	T	T	24771823	C	T	24771823	2	4	132	1	0	0	0	0	0	0	0	1	10355	796	28	3		3	NEFM	8	24771823	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09		24771823	121592199	73	33805											
DCAF13	25879	genome.wustl.edu	37	chr8	104439377	104439377	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	agaagctgtttttgccacatGtggacagcaagtagacattt	12	12	10	7	0	0	2	0	0	0	2	0	3	0	3	1	1	3	4	1	1	3	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr8:104439377G>A	ENST00000297579.5	+	5	1254	c.977G>A	c.(976-978)tGt>tAt	p.C326Y	DCAF13_ENST00000519682.1_Missense_Mutation_p.C170Y|DCAF13_ENST00000521971.1_Missense_Mutation_p.C134Y|DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	174					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						TTTGCCACATGTGGACAGCAA	0.338																																																	0													90	85	87					8																	104439377		2203	4298	6501	SO:0001583	missense	0			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.977G>A	8.37:g.104439377G>A	ENSP00000297579:p.Cys326Tyr		Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C326Y	ENST00000297579.5	37	c.977	CCDS34934.1	8	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787917	0.90367	.	.	ENSG00000164934	ENST00000297579;ENST00000521971;ENST00000519682	T;T;T	0.01388	4.95;4.95;4.95	5.86	5.86	0.93980	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	0.11623	0.0283	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.984	T	0.00066	-1.2145	10	0.87932	D	0	-22.7852	20.1739	0.98173	0.0:0.0:1.0:0.0	.	174;174	B3KME9;Q9NV06	.;DCA13_HUMAN	Y	326;134;170	ENSP00000297579:C326Y;ENSP00000430883:C134Y;ENSP00000430411:C170Y	ENSP00000297579:C326Y	C	+	2	0	DCAF13	104508553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.774000	0.95407	0.585000	0.79938	TGT	DCAF13	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000164934		0.338	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF13	HGNC	protein_coding	OTTHUMT00000380797.2	-	0	49	0	G	NM_015420		104439377	1	tier1	-	no_errors	ENST00000297579	ensembl	human	known	74_37	missense	22.12	81	23	SNP	1.000	A	A	104439377	G	A	104439377	3	1	132	1	0	0	0	0	1	0	0	0	4275	1377	48	3	995	3	DCAF13	8	104439377	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	79667554	104439377	41924645	74	33806											
FAM91A1	157769	genome.wustl.edu	37	chr8	124790938	124790938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcccgtgatcttctaccaAtaaagccagtggaaattgcc	12	9	8	12	1	2	1	0	1	2	0	2	2	2	2	4	1	4	0	4	1	5	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr8:124790938A>G	ENST00000334705.7	+	6	721	c.475A>G	c.(475-477)Ata>Gta	p.I159V	FAM91A1_ENST00000521166.1_Missense_Mutation_p.I159V	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	159										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)			TCTTCTACCAATAAAGCCAGT	0.388																																																	0													52	48	50					8																	124790938		1835	4081	5916	SO:0001583	missense	0			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.475A>G	8.37:g.124790938A>G	ENSP00000335082:p.Ile159Val		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	NULL	p.I159V	ENST00000334705.7	37	c.475	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	A	10.23	1.292200	0.23564	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.40476	1.03;1.62	5.63	-3.31	0.04988	.	0.388626	0.25497	N	0.030261	T	0.14830	0.0358	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	0.12993	-1.0526	10	0.26408	T	0.33	.	7.5188	0.27616	0.5491:0.0:0.3374:0.1135	.	159;159	E7ER68;Q658Y4	.;F91A1_HUMAN	V	159	ENSP00000429491:I159V;ENSP00000335082:I159V	ENSP00000335082:I159V	I	+	1	0	FAM91A1	124860119	0.163000	0.22920	0.002000	0.10522	0.983000	0.72400	0.628000	0.24522	-0.997000	0.03450	-0.242000	0.12053	ATA	FAM91A1	-	NULL	ENSG00000176853		0.388	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	-	0	68	0	A	NM_144963		124790938	1	tier1	-	no_errors	ENST00000334705	ensembl	human	known	74_37	missense	15.24	138	25	SNP	0.008	G	G	124790938	A	G	124790938	3	3	132	1	0	0	0	0	1	0	0	0	5673	101	4	4	497	4	FAM91A1	8	124790938	Missense_Mutation	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	20351561	124790938	21573084	75	33807											
ADCY8	114	genome.wustl.edu	37	chr8	132052045	132052045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccacttccgatttgcGcctttggcccaagaaatagc	10	10	7	14	2	1	1	1	0	0	1	2	2	2	1	4	1	2	0	4	1	3	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr8:132052045G>A	ENST00000286355.5	-	1	2627	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	ADCY8_ENST00000377928.3_Missense_Mutation_p.R179C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	179					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)			TCCGATTTGCGCCTTTGGCCC	0.567										HNSCC(32;0.087)																																							0													81	82	82					8																	132052045		2203	4300	6503	SO:0001583	missense	0			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.535C>T	8.37:g.132052045G>A	ENSP00000286355:p.Arg179Cys			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R179C	ENST00000286355.5	37	c.535	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554126	0.86231	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.66815	-0.23;-0.23	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.77011	0.4068	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.76570	-0.2911	10	0.44086	T	0.13	.	17.6088	0.88046	0.0:0.0:1.0:0.0	.	179;179	E7EVL1;P40145	.;ADCY8_HUMAN	C	179	ENSP00000286355:R179C;ENSP00000367161:R179C	ENSP00000286355:R179C	R	-	1	0	ADCY8	132121227	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.167000	0.94773	2.412000	0.81896	0.455000	0.32223	CGC	ADCY8	-	NULL	ENSG00000155897		0.567	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	39	0	G			132052045	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	21.82	42	12	SNP	1.000	A	A	132052045	G	A	132052045	3	1	132	1	0	0	0	0	1	0	0	0	300	1087	38	1	3292	1	ADCY8	8	132052045	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	7261107	132052045	14311977	76	33808											
PLEC	5339	genome.wustl.edu	37	chr8	144996545	144996545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtctcctgcagcagctgctCctgctgcaccgtctgcatct	4	11	9	17	2	3	0	0	0	3	0	5	0	4	0	3	0	7	7	3	0	0	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr8:144996545C>G	ENST00000322810.4	-	32	8024	c.7855G>C	c.(7855-7857)Gag>Cag	p.E2619Q	PLEC_ENST00000354958.2_Missense_Mutation_p.E2460Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2450Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2486Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2505Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2468Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2482Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2482Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2509Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2619	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)	p.E2619*(1)		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						AGCAGCTGCTCCTGCTGCACC	0.627																																																	1	Substitution - Nonsense(1)	skin(1)											29	34	33					8																	144996545		2018	4158	6176	SO:0001583	missense	0			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.7855G>C	8.37:g.144996545C>G	ENSP00000323856:p.Glu2619Gln		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2619Q	ENST00000322810.4	37	c.7855	CCDS43772.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.785|2.785	-0.252625|-0.252625	0.05829|0.05829	.|.	.|.	ENSG00000178209|ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096|ENST00000527303	T;T;T;T;T;T;T;T;T|.	0.78595|.	-1.16;-1.16;-1.19;-1.19;-1.18;-1.16;-1.16;-1.16;-1.16|.	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	0.180777|.	0.33235|.	U|.	0.005134|.	T|T	0.65365|0.65365	0.2684|0.2684	L|L	0.53249|0.53249	1.67|1.67	0.35337|0.35337	D|D	0.786104|0.786104	P;P;P;P;P;P;P;P|.	0.38597|.	0.639;0.639;0.639;0.506;0.639;0.639;0.639;0.639|.	B;B;B;B;B;B;B;B|.	0.30029|.	0.11;0.11;0.11;0.051;0.11;0.11;0.11;0.11|.	T|T	0.71862|0.71862	-0.4464|-0.4464	10|5	0.54805|.	T|.	0.06|.	.|.	16.741|16.741	0.85459|0.85459	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2509;2468;2460;2619;2450;2482;2486;2482|.	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4|.	.;.;.;PLEC_HUMAN;.;.;.;.|.	Q|S	2482;2486;2482;2450;2619;2460;2468;2509;2505|51	ENSP00000344848:E2482Q;ENSP00000350277:E2486Q;ENSP00000346602:E2482Q;ENSP00000381756:E2450Q;ENSP00000323856:E2619Q;ENSP00000347044:E2460Q;ENSP00000348702:E2468Q;ENSP00000388180:E2509Q;ENSP00000434583:E2505Q|.	ENSP00000323856:E2619Q|.	E|R	-|-	1|3	0|2	PLEC|PLEC	145068533|145068533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.071000|0.071000	0.16799|0.16799	4.540000|4.540000	0.60664|0.60664	2.292000|2.292000	0.77174|0.77174	0.448000|0.448000	0.29417|0.29417	GAG|AGG	PLEC	-	NULL	ENSG00000178209		0.627	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	45	0	C	NM_000445		144996545	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	28.57	35	14	SNP	1.000	G	G	144996545	C	G	144996545	3	3	132	1	0	0	0	0	1	0	0	0	12091	864	30	5	6203	5	PLEC	8	144996545	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	12944500	144996545	1367477	77	33809											
PLEC	5339	genome.wustl.edu	37	chr8	144996723	144996723	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgttggagcttctccttCtcacgctccagctcagcgat	5	13	8	15	2	3	0	2	0	2	0	7	2	5	1	3	1	3	4	3	1	0	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr8:144996723C>G	ENST00000322810.4	-	31	7954	c.7785G>C	c.(7783-7785)gaG>gaC	p.E2595D	PLEC_ENST00000354958.2_Missense_Mutation_p.E2436D|PLEC_ENST00000398774.2_Missense_Mutation_p.E2426D|PLEC_ENST00000357649.2_Missense_Mutation_p.E2462D|PLEC_ENST00000527096.1_Missense_Mutation_p.E2481D|PLEC_ENST00000356346.3_Missense_Mutation_p.E2444D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2458D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2458D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2485D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2595	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						GCTTCTCCTTCTCACGCTCCA	0.637																																																	0													37	41	40					8																	144996723		2118	4231	6349	SO:0001583	missense	0			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.7785G>C	8.37:g.144996723C>G	ENSP00000323856:p.Glu2595Asp		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2595D	ENST00000322810.4	37	c.7785	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733197	0.48939	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.91180	-2.77;-2.77;-2.8;-2.79;-2.75;-2.75;-2.74;-2.76;-2.76	4.43	4.43	0.53597	.	0.000000	0.64402	U	0.000006	D	0.92854	0.7727	L	0.48642	1.525	0.48762	D	0.999702	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	0.83275	0.996;0.996;0.996;0.991;0.996;0.996;0.996;0.996	D	0.90595	0.4540	10	0.20519	T	0.43	.	16.8143	0.85729	0.0:1.0:0.0:0.0	.	2485;2444;2436;2595;2426;2458;2462;2458	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	D	2458;2462;2458;2426;2595;2436;2444;2485;2481	ENSP00000344848:E2458D;ENSP00000350277:E2462D;ENSP00000346602:E2458D;ENSP00000381756:E2426D;ENSP00000323856:E2595D;ENSP00000347044:E2436D;ENSP00000348702:E2444D;ENSP00000388180:E2485D;ENSP00000434583:E2481D	ENSP00000323856:E2595D	E	-	3	2	PLEC	145068711	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	3.537000	0.53590	2.309000	0.77851	0.448000	0.29417	GAG	PLEC	-	NULL	ENSG00000178209		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	65	0	C	NM_000445		144996723	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	28.87	69	28	SNP	1.000	G	G	144996723	C	G	144996723	3	3	132	1	0	0	0	0	1	0	0	0	12091	912	32	5	6277	5	PLEC	8	144996723	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	178	144996723	1367299	78	33810											
RFX3	5991	genome.wustl.edu	37	chr9	3293163	3293163	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gcattgactgggtccagtttGtgttcctgacagtgtcgaag	7	13	13	8	1	0	2	0	2	0	0	3	3	2	2	2	1	0	3	2	1	1	3	rs374803532		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:3293163G>T	ENST00000382004.3	-	7	956	c.645C>A	c.(643-645)caC>caA	p.H215Q	RFX3_ENST00000358730.2_Missense_Mutation_p.H215Q|RFX3_ENST00000302303.1_Missense_Mutation_p.H215Q	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	215					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GGTCCAGTTTGTGTTCCTGAC	0.453																																																	0													126	116	119					9																	3293163		2203	4300	6503	SO:0001583	missense	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.645C>A	9.37:g.3293163G>T	ENSP00000371434:p.His215Gln		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.H215Q	ENST00000382004.3	37	c.645	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615058	0.28712	.	.	ENSG00000080298	ENST00000382004;ENST00000381992;ENST00000358730;ENST00000302303;ENST00000457373	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.71	4.81	0.61882	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.045999	0.85682	D	0.000000	T	0.75162	0.3812	L	0.43646	1.37	0.80722	D	1	B;B;B;B	0.27416	0.009;0.178;0.014;0.009	B;B;B;B	0.24155	0.01;0.051;0.03;0.021	T	0.69698	-0.5075	10	0.23302	T	0.38	-13.8005	11.6099	0.51053	0.1424:0.0:0.8576:0.0	.	190;215;215;215	B1ANP5;P48380-3;P48380-2;P48380	.;.;.;RFX3_HUMAN	Q	215;190;215;215;190	ENSP00000371434:H215Q;ENSP00000351574:H215Q;ENSP00000303847:H215Q;ENSP00000405664:H190Q	ENSP00000303847:H215Q	H	-	3	2	RFX3	3283163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.054000	0.64275	1.415000	0.47037	0.585000	0.79938	CAC	RFX3	-	pfam_DNA-bd_RFX	ENSG00000080298		0.453	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	-	0	87	0	G	NM_002919		3293163	-1	tier1	-	no_errors	ENST00000382004	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	3293163	G	T	3293163	3	4	132	1	0	0	0	0	1	0	0	0	13309	1368	48	3	1808	3	RFX3	9	3293163	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09		3293163	137920268	79	33811											
CNTLN	54875	genome.wustl.edu	37	chr9	17236494	17236494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaagaaattaagtaccCgctgcactgacctgctaaat	17	8	6	10	1	0	2	0	1	0	1	0	2	0	2	2	0	4	4	2	0	8	3	rs200620921		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:17236494C>T	ENST00000380647.3	+	5	841	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	CNTLN_ENST00000425824.1_Missense_Mutation_p.R253C|CNTLN_ENST00000262360.5_Missense_Mutation_p.R253C|CNTLN_ENST00000380641.4_Missense_Mutation_p.R253C			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	253					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)	p.R253S(1)|p.R253G(1)		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)		ATTAAGTACCCGCTGCACTGA	0.373																																																	2	Substitution - Missense(2)	lung(1)|breast(1)						C	CYS/ARG,CYS/ARG	0,3666		0,0,1833	97	98	98		757,757	3.8	0.6	9		98	1,8171		0,1,4085	no	missense,missense	CNTLN	NM_017738.2,NM_001114395.1	180,180	0,1,5918	TT,TC,CC		0.0122,0.0,0.0084	benign,benign	253/1407,253/392	17236494	1,11837	1833	4086	5919	SO:0001583	missense	0			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.757C>T	9.37:g.17236494C>T	ENSP00000370021:p.Arg253Cys		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.R253C	ENST00000380647.3	37	c.757	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205083	0.39003	0.0	1.22E-4	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.11495	2.77;2.77;3.2;3.2	5.59	3.76	0.43208	.	.	.	.	.	T	0.15955	0.0384	L	0.47716	1.5	0.30496	N	0.770906	B;B;D	0.71674	0.038;0.038;0.998	B;B;P	0.53861	0.007;0.007;0.736	T	0.09015	-1.0694	9	0.54805	T	0.06	.	5.4835	0.16737	0.1409:0.6353:0.0:0.2238	.	253;253;253	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	C	253	ENSP00000370021:R253C;ENSP00000392798:R253C;ENSP00000262360:R253C;ENSP00000370015:R253C	ENSP00000262360:R253C	R	+	1	0	CNTLN	17226494	1.000000	0.71417	0.567000	0.28434	0.940000	0.58332	1.788000	0.38714	0.719000	0.32188	0.655000	0.94253	CGC	CNTLN	-	superfamily_Prefoldin	ENSG00000044459		0.373	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3		0	31	0	C	NM_017738		17236494	1			no_errors	ENST00000380647	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.541	T	T	17236494	C	T	17236494	3	4	132	1	0	0	0	0	1	0	0	0	3646	652	23	1	775	1	CNTLN	9	17236494	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	13943331	17236494	123976937	80	33812											
KIAA1797	54914	genome.wustl.edu	37	chr9	20951011	20951011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaggtcattagtgtctctgGggtgattggtctccagtcaa	7	14	13	7	0	4	1	2	1	2	0	6	1	4	1	1	4	0	1	1	4	3	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:20951011G>T	ENST00000380249.1	+	36	4329	c.3965G>T	c.(3964-3966)gGg>gTg	p.G1322V	FOCAD_ENST00000338382.6_Missense_Mutation_p.G1322V|FOCAD_ENST00000605086.1_Missense_Mutation_p.G758V	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1322						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AGTGTCTCTGGGGTGATTGGT	0.403																																																	0													222	206	212					9																	20951011		2203	4300	6503	SO:0001583	missense	0			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.3965G>T	9.37:g.20951011G>T	ENSP00000369599:p.Gly1322Val		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.G1322V	ENST00000380249.1	37	c.3965	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365209	0.61513	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.30448	1.53;1.53	5.87	4.92	0.64577	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50360	0.1611	M	0.67953	2.075	0.80722	D	1	D	0.61080	0.989	P	0.61003	0.882	T	0.50759	-0.8790	10	0.66056	D	0.02	-21.9872	15.4228	0.75025	0.0:0.1396:0.8604:0.0	.	1322	Q5VW36	K1797_HUMAN	V	1322	ENSP00000369599:G1322V;ENSP00000344307:G1322V	ENSP00000344307:G1322V	G	+	2	0	KIAA1797	20941011	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	4.454000	0.60068	2.775000	0.95449	0.650000	0.86243	GGG	FOCAD	-	pfam_DUF3028,superfamily_ARM-type_fold	ENSG00000188352		0.403	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	-	0	76	0	G	NM_017794		20951011	1	tier1	-	no_errors	ENST00000338382	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	20951011	G	T	20951011	3	4	132	1	0	0	0	0	1	0	0	0	8285	1232	43	3	4095	3	KIAA1797	9	20951011	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	3714517	20951011	120262420	81	33813											
UBAP2	55833	genome.wustl.edu	37	chr9	33941666	33941666	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgatggttcctggagctGactctgatgaactcacaggg	9	10	12	10	0	2	4	1	4	1	0	3	5	3	5	2	3	2	2	2	3	1	1	rs552066686	byFrequency	TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:33941666G>C	ENST00000379238.1	-	16	2027	c.1910C>G	c.(1909-1911)tCa>tGa	p.S637*	UBAP2_ENST00000449054.1_Nonsense_Mutation_p.S637*|UBAP2_ENST00000379239.4_Nonsense_Mutation_p.S370*|UBAP2_ENST00000539807.1_Nonsense_Mutation_p.S392*|UBAP2_ENST00000379225.1_Nonsense_Mutation_p.S270*|UBAP2_ENST00000360802.1_Nonsense_Mutation_p.S637*|UBAP2_ENST00000418786.2_Nonsense_Mutation_p.S584*					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)		TCCTGGAGCTGACTCTGATGA	0.398																																																	0													91	87	88					9																	33941666		2203	4300	6503	SO:0001587	stop_gained	0			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.1910C>G	9.37:g.33941666G>C	ENSP00000368540:p.Ser637*			Nonsense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.S637*	ENST00000379238.1	37	c.1910	CCDS6547.1	9	.	.	.	.	.	.	.	.	.	.	G	43	9.872389	0.99284	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	.	.	.	6.03	5.1	0.69264	.	0.777035	0.12129	N	0.496960	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	0.1224	10.1918	0.43030	0.1566:0.0:0.8434:0.0	.	.	.	.	X	637;637;637;546;370;392;584;270	.	ENSP00000354039:S637X	S	-	2	0	UBAP2	33931666	0.093000	0.21703	0.013000	0.15412	0.974000	0.67602	2.448000	0.44926	1.474000	0.48178	0.655000	0.94253	TCA	UBAP2	-	NULL	ENSG00000137073		0.398	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	-	0	23	0	G	NM_018449		33941666	-1	tier1	-	no_errors	ENST00000360802	ensembl	human	known	74_37	nonsense	47.73	23	21	SNP	0.028	C	C	33941666	G	C	33941666	4	2	132	1	0	0	0	0	0	1	0	0	16886	1294	45	5	1505	5	UBAP2	9	33941666	Nonsense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	12990655	33941666	107271765	82	33814											
RUSC2	9853	genome.wustl.edu	37	chr9	35561273	35561273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtgctggggcgagctggagGagactggctgcgctgcagcc	6	6	19	10	2	0	1	0	0	0	1	0	4	0	2	1	5	5	5	1	5	0	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:35561273G>C	ENST00000455600.1	+	12	5014	c.4445G>C	c.(4444-4446)gGa>gCa	p.G1482A	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1482	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					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)			CGAGCTGGAGGAGACTGGCTG	0.652																																																	0													49	60	56					9																	35561273		2203	4300	6503	SO:0001583	missense	0			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.4445G>C	9.37:g.35561273G>C	ENSP00000393922:p.Gly1482Ala		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.G1482A	ENST00000455600.1	37	c.4445	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	G	8.571	0.879952	0.17467	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.09073	3.02;3.02	5.39	3.5	0.40072	Src homology-3 domain (3);Variant SH3 (1);	0.609127	0.18004	N	0.154808	T	0.06600	0.0169	L	0.35542	1.07	0.24585	N	0.993855	B	0.06786	0.001	B	0.12156	0.007	T	0.32745	-0.9895	10	0.23302	T	0.38	-0.0062	8.5492	0.33440	0.0819:0.1553:0.7628:0.0	.	1482	Q8N2Y8	RUSC2_HUMAN	A	1482	ENSP00000355177:G1482A;ENSP00000393922:G1482A	ENSP00000355177:G1482A	G	+	2	0	RUSC2	35551273	0.637000	0.27216	0.909000	0.35828	0.971000	0.66376	2.115000	0.41921	1.386000	0.46466	0.650000	0.86243	GGA	RUSC2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000198853		0.652	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	-	0	57	0	G	XM_048462		35561273	1	tier1	-	no_errors	ENST00000361226	ensembl	human	known	74_37	missense	64.58	17	31	SNP	0.413	C	C	35561273	G	C	35561273	3	2	132	1	0	0	0	0	1	0	0	0	13796	1174	41	5	4487	5	RUSC2	9	35561273	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	1619607	35561273	105652158	83	33815											
C9orf100	84904	genome.wustl.edu	37	chr9	35662967	35662967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagcccctttgcctggcGtccactgagcagagcctgga	6	8	13	14	1	1	2	1	1	0	1	2	3	2	3	5	3	4	1	5	3	0	1	rs143394421		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:35662967G>T	ENST00000378387.3	-	6	766	c.649C>A	c.(649-651)Cgc>Agc	p.R217S	ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000490970.1_Intron|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.R181S	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	217					positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										TTTGCCTGGCGTCCACTGAGC	0.517																																																	0													73	64	67					9																	35662967		2203	4300	6503	SO:0001583	missense	0			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.649C>A	9.37:g.35662967G>T	ENSP00000367638:p.Arg217Ser		Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R217S	ENST00000378387.3	37	c.649	CCDS6584.2	9	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038947	0.75617	.	.	ENSG00000137135	ENST00000378387;ENST00000378395	T;T	0.41400	1.0;1.0	5.83	4.93	0.64822	Pleckstrin homology-type (1);	0.113495	0.64402	D	0.000017	T	0.45115	0.1326	M	0.64997	1.995	0.80722	D	1	D	0.55605	0.972	P	0.49047	0.599	T	0.36016	-0.9765	10	0.18710	T	0.47	-7.0221	10.7632	0.46277	0.0874:0.0:0.9126:0.0	.	217	Q8N4T4	CI100_HUMAN	S	217;181	ENSP00000367638:R217S;ENSP00000367648:R181S	ENSP00000367638:R217S	R	-	1	0	C9orf100	35652967	0.993000	0.37304	0.996000	0.52242	0.999000	0.98932	2.342000	0.43992	1.451000	0.47736	0.650000	0.86243	CGC	ARHGEF39	-	NULL	ENSG00000137135		0.517	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF39	HGNC	protein_coding	OTTHUMT00000052330.1		0	36	0	G	NM_032818		35662967	-1			no_errors	ENST00000378387	ensembl	human	known	74_37	missense	5.00	37	2	SNP	0.974	T	T	35662967	G	T	35662967	3	4	132	1	0	0	0	0	1	0	0	0	2451	1145	40	2	374	2	C9orf100	9	35662967	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	101694	35662967	105550464	84	33816											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100133895	100133895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgtaccagaaggaatGgccaggttttcataaccaac	15	8	10	8	0	1	1	1	0	0	1	1	3	1	3	3	4	3	2	3	4	6	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:100133895G>T	ENST00000357054.1	+	46	5409	c.4474G>T	c.(4474-4476)Ggc>Tgc	p.G1492C	CCDC180_ENST00000529487.1_Missense_Mutation_p.G1547C|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.G1547C|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1492						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G1492C(1)|p.G1547C(1)									CAGAAGGAATGGCCAGGTTTT	0.507																																																	2	Substitution - Missense(2)	lung(2)											130	109	116					9																	100133895		2203	4300	6503	SO:0001583	missense	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.4474G>T	9.37:g.100133895G>T	ENSP00000349562:p.Gly1492Cys		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.G1547C	ENST00000357054.1	37	c.4639		9	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604942	0.46423	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.49139	0.79;0.79;0.79	5.29	-0.949	0.10376	.	0.667620	0.14901	N	0.291805	T	0.52008	0.1708	L	0.40543	1.245	0.09310	N	1	D;D	0.64830	0.994;0.994	P;D	0.64410	0.861;0.925	T	0.47535	-0.9110	10	0.66056	D	0.02	-3.4992	8.9795	0.35957	0.4892:0.0:0.5108:0.0	.	1686;1492	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	C	1492;1547;1547	ENSP00000349562:G1492C;ENSP00000364348:G1547C;ENSP00000434727:G1547C	ENSP00000349562:G1492C	G	+	1	0	C9orf174	99173716	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.254000	0.08781	-0.389000	0.07786	0.561000	0.74099	GGC	CCDC180	-	NULL	ENSG00000197816		0.507	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding			0	45	0	G	NM_020893		100133895	1			no_errors	ENST00000375202	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.002	T	T	100133895	G	T	100133895	3	4	132	1	0	0	0	0	1	0	0	0	8267	1348	47	3	4612	3	KIAA1529	9	100133895	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	64470928	100133895	41079536	85	33817											
LPPR1	54886	genome.wustl.edu	37	chr9	104071531	104071531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgctactgacatttttGtaaacgccggacaagtggtc	9	15	9	8	2	0	1	0	1	0	0	1	2	0	2	1	2	3	2	1	2	4	6			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:104071531G>T	ENST00000374874.3	+	5	863	c.424G>T	c.(424-426)Gta>Tta	p.V142L	LPPR1_ENST00000395056.2_Missense_Mutation_p.V142L	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		142					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										TGACATTTTTGTAAACGCCGG	0.433																																																	0													174	160	165					9																	104071531		2203	4300	6503	SO:0001583	missense	0																														ENST00000374874.3:c.424G>T	9.37:g.104071531G>T	ENSP00000364008:p.Val142Leu		Q5VX23|Q9NXE2	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.V142L	ENST00000374874.3	37	c.424	CCDS6751.1	9	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834717	0.71373	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.52526	0.66;0.66	5.32	5.32	0.75619	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.130586	0.51477	D	0.000091	T	0.54382	0.1855	M	0.73598	2.24	0.80722	D	1	B;P	0.43024	0.198;0.798	B;B	0.41466	0.206;0.358	T	0.62685	-0.6802	10	0.72032	D	0.01	-6.4621	18.3395	0.90300	0.0:0.0:1.0:0.0	.	126;142	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	L	142	ENSP00000364008:V142L;ENSP00000378496:V142L	ENSP00000364005:V142L	V	+	1	0	RP11-35N6.1	103111352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.660000	0.90430	0.591000	0.81541	GTA	LPPR1	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000148123		0.433	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR1	Uniprot_gn	protein_coding	OTTHUMT00000053425.1		0	37	0	G			104071531	1			no_errors	ENST00000374874	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	104071531	G	T	104071531	3	4	132	1	0	0	0	0	1	0	0	0	8959	1377	48	3	438	3	LPPR1	9	104071531	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	3937636	104071531	37141900	86	33818											
GRIN3A	116443	genome.wustl.edu	37	chr9	104499884	104499884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacggcaaataggagggcGtcccgtggccacagggcctc	8	5	14	14	3	0	0	0	0	0	0	3	1	2	1	4	5	0	1	4	5	2	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:104499884G>A	ENST00000361820.3	-	1	978	c.378C>T	c.(376-378)gaC>gaT	p.D126D		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	126					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)	ATAGGAGGGCGTCCCGTGGCC	0.701																																																	0													37	37	37					9																	104499884		2203	4300	6503	SO:0001819	synonymous_variant	0				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.378C>T	9.37:g.104499884G>A			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.D126	ENST00000361820.3	37	c.378	CCDS6758.1	9																																																																																			GRIN3A	-	superfamily_Peripla_BP_I	ENSG00000198785		0.701	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	-	0	24	0	G			104499884	-1	tier1	-	no_errors	ENST00000361820	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.601	A	A	104499884	G	A	104499884	2	1	132	1	0	0	0	0	0	0	0	1	6810	1136	40	1		1	GRIN3A	9	104499884	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	428353	104499884	36713547	87	33819											
ALAD	210	genome.wustl.edu	37	chr9	116151931	116151931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	ggggcagctggtagcagcggCggtccccaaaagctgggctt	7	6	17	11	2	0	0	0	0	0	0	1	0	1	0	2	6	4	6	2	6	3	2	rs143028530		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:116151931C>A	ENST00000409155.3	-	9	858	c.662G>T	c.(661-663)cGc>cTc	p.R221L	ALAD_ENST00000277315.5_Missense_Mutation_p.R204L|ALAD_ENST00000482001.1_5'Flank	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	221					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)	GTAGCAGCGGCGGTCCCCAAA	0.632																																																	0													31	34	33					9																	116151931		2203	4300	6503	SO:0001583	missense	0			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.662G>T	9.37:g.116151931C>A	ENSP00000386284:p.Arg221Leu		A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth	p.R221L	ENST00000409155.3	37	c.662	CCDS6794.2	9	.	.	.	.	.	.	.	.	.	.	C	33	5.262773	0.95399	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.90261	-2.64;-2.64	5.41	5.41	0.78517	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.97480	0.9175	H	0.98542	4.26	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	0.99078	1.0836	10	0.87932	D	0	-11.8612	18.1838	0.89787	0.0:1.0:0.0:0.0	.	221;204;250	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	L	221;204	ENSP00000386284:R221L;ENSP00000277315:R204L	ENSP00000277315:R204L	R	-	2	0	ALAD	115191752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.385000	0.79763	2.524000	0.85096	0.655000	0.94253	CGC	ALAD	-	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth	ENSG00000148218		0.632	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAD	HGNC	protein_coding	OTTHUMT00000053724.3		0	21	0	C	NM_001003945		116151931	-1			no_errors	ENST00000409155	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	A	A	116151931	C	A	116151931	3	1	132	1	0	0	0	0	1	0	0	0	483	768	27	2	346	2	ALAD	9	116151931	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	11652047	116151931	25061500	88	33820											
TTC16	158248	genome.wustl.edu	37	chr9	130493299	130493299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcagggccagaggcagagctCcagcgagattgaggccaccc	10	4	14	13	1	1	4	1	1	0	3	2	5	2	4	4	3	2	2	4	3	0	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:130493299C>G	ENST00000373289.3	+	14	2317	c.2237C>G	c.(2236-2238)tCc>tGc	p.S746C	TTC16_ENST00000489226.1_3'UTR|TOR2A_ENST00000472723.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	746										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGGCAGAGCTCCAGCGAGATT	0.657																																																	0													37	35	36					9																	130493299		2201	4296	6497	SO:0001583	missense	0			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.2237C>G	9.37:g.130493299C>G	ENSP00000362386:p.Ser746Cys		B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S746C	ENST00000373289.3	37	c.2237	CCDS6875.1	9	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125956	0.56721	.	.	ENSG00000167094	ENST00000373289	T	0.19938	2.11	4.51	4.51	0.55191	.	2.008310	0.02133	N	0.056557	T	0.38692	0.1050	M	0.62723	1.935	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.49999	0.628;0.628	T	0.29058	-1.0024	10	0.66056	D	0.02	-2.8466	13.0255	0.58812	0.0:1.0:0.0:0.0	.	733;746	B4DZ42;Q8NEE8	.;TTC16_HUMAN	C	746	ENSP00000362386:S746C	ENSP00000362386:S746C	S	+	2	0	TTC16	129533120	0.130000	0.22417	0.012000	0.15200	0.002000	0.02628	2.141000	0.42168	2.793000	0.96121	0.561000	0.74099	TCC	TTC16	-	NULL	ENSG00000167094		0.657	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC16	HGNC	protein_coding	OTTHUMT00000054224.1		0	95	0	C	NM_144965		130493299	1			no_errors	ENST00000373289	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.019	G	G	130493299	C	G	130493299	3	3	132	1	0	0	0	0	1	0	0	0	16732	855	30	5	2291	5	TTC16	9	130493299	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	14341368	130493299	10720132	89	33821											
SLC2A6	11182	genome.wustl.edu	37	chr9	136337224	136337224	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttggtctcgggcacacaGcagcctgtgaacaccaggct	8	7	11	15	1	1	1	0	1	1	0	2	1	1	1	3	3	3	3	3	3	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:136337224G>A	ENST00000371899.4	-	10	1520	c.1443C>T	c.(1441-1443)tgC>tgT	p.C481C	SLC2A6_ENST00000371897.4_Silent_p.C419C|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	481					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGGGCACACAGCAGCCTGTGA	0.637																																																	0													95	92	93					9																	136337224		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1443C>T	9.37:g.136337224G>A			A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.C481	ENST00000371899.4	37	c.1443	CCDS6975.1	9																																																																																			SLC2A6	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000160326		0.637	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1		0	76	0	G	NM_017585		136337224	-1			no_errors	ENST00000371899	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.998	A	A	136337224	G	A	136337224	2	1	132	1	0	0	0	0	0	0	0	1	14594	963	34	3		3	SLC2A6	9	136337224	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	5843925	136337224	4876207	90	33822											
CACNA1B	774	genome.wustl.edu	37	chr9	140777281	140777281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctttgtcttccacaaggGctcttacctgcggaacggct	6	11	12	12	2	2	0	0	0	2	0	3	1	3	1	2	4	3	3	2	4	3	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr9:140777281G>T	ENST00000371372.1	+	3	621	c.476G>T	c.(475-477)gGc>gTc	p.G159V	CACNA1B_ENST00000371357.1_Missense_Mutation_p.G159V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G159V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G159V|CACNA1B_ENST00000277549.5_5'UTR|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G159V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	159					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)	TTCCACAAGGGCTCTTACCTG	0.592																																																	0													205	217	213					9																	140777281		2118	4221	6339	SO:0001583	missense	0			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.476G>T	9.37:g.140777281G>T	ENSP00000360423:p.Gly159Val		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.G159V	ENST00000371372.1	37	c.476	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517734	0.64634	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9	4.57	4.57	0.56435	.	0.062490	0.64402	D	0.000004	D	0.99067	0.9680	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99651	1.0991	10	0.87932	D	0	.	17.3563	0.87336	0.0:0.0:1.0:0.0	.	159	B1AQK6	.	V	159	ENSP00000360423:G159V;ENSP00000277551:G159V;ENSP00000360414:G159V;ENSP00000360408:G159V;ENSP00000360406:G159V	ENSP00000277551:G159V	G	+	2	0	CACNA1B	139897102	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	9.633000	0.98432	2.070000	0.61991	0.467000	0.42956	GGC	CACNA1B	-	pfam_Ion_trans_dom	ENSG00000148408		0.592	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1		0	118	0	G	NM_000718		140777281	1			no_errors	ENST00000371355	ensembl	human	known	74_37	missense	5.38	88	5	SNP	1.000	T	T	140777281	G	T	140777281	3	4	132	1	0	0	0	0	1	0	0	0	2546	1203	42	3	486	3	CACNA1B	9	140777281	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	4440057	140777281	436150	91	33823											
OPTN	10133	genome.wustl.edu	37	chr10	13164403	13164403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagtttcagattttgaaaaGaaaacaagtaatcgttctga	17	12	8	4	1	2	5	1	2	1	3	3	5	2	5	0	0	1	3	0	0	6	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr10:13164403G>C	ENST00000378748.3	+	9	1160	c.798G>C	c.(796-798)aaG>aaC	p.K266N	OPTN_ENST00000378764.2_Missense_Mutation_p.K260N|OPTN_ENST00000378757.2_Missense_Mutation_p.K266N|OPTN_ENST00000378747.3_Missense_Mutation_p.K266N|OPTN_ENST00000263036.5_Missense_Mutation_p.K266N|OPTN_ENST00000378752.3_Missense_Mutation_p.K260N	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	266					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						ATTTTGAAAAGAAAACAAGTA	0.368																																																	0													49	55	53					10																	13164403		2203	4300	6503	SO:0001583	missense	0			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.798G>C	10.37:g.13164403G>C	ENSP00000368022:p.Lys266Asn		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	pfam_NEMO_N	p.K266N	ENST00000378748.3	37	c.798	CCDS7094.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.03|12.03	1.816902|1.816902	0.32145|0.32145	.|.	.|.	ENSG00000123240|ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747|ENST00000424614	D;D;D;D;D;D|.	0.87966|.	-2.31;-2.32;-2.31;-2.32;-2.31;-2.31|.	5.83|5.83	3.96|3.96	0.45880|0.45880	.|.	0.372480|.	0.36374|.	N|.	0.002623|.	T|T	0.50188|0.50188	0.1601|0.1601	L|L	0.61036|0.61036	1.89|1.89	0.30332|0.30332	N|N	0.786584|0.786584	P;P|.	0.39748|.	0.686;0.559|.	B;B|.	0.37888|.	0.26;0.133|.	T|T	0.51545|0.51545	-0.8692|-0.8692	10|5	0.45353|.	T|.	0.12|.	-24.1676|-24.1676	7.5913|7.5913	0.28023|0.28023	0.083:0.0:0.7541:0.1629|0.083:0.0:0.7541:0.1629	.|.	260;266|.	Q96CV9-2;Q96CV9|.	.;OPTN_HUMAN|.	N|T	266;260;266;260;266;266|82	ENSP00000263036:K266N;ENSP00000368040:K260N;ENSP00000368032:K266N;ENSP00000368027:K260N;ENSP00000368022:K266N;ENSP00000368021:K266N|.	ENSP00000263036:K266N|.	K|R	+|+	3|2	2|0	OPTN|OPTN	13204409|13204409	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.780000|0.780000	0.44128|0.44128	1.010000|1.010000	0.29898|0.29898	0.796000|0.796000	0.33947|0.33947	0.650000|0.650000	0.86243|0.86243	AAG|AGA	OPTN	-	NULL	ENSG00000123240		0.368	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	-	0	76	0	G	NM_021980		13164403	1	tier1	-	no_errors	ENST00000263036	ensembl	human	known	74_37	missense	6.45	87	6	SNP	1.000	C	C	13164403	G	C	13164403	3	2	132	1	0	0	0	0	1	0	0	0	10928	933	33	5	820	5	OPTN	10	13164403	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09		13164403	122370344	92	33824											
C10orf140	387640	genome.wustl.edu	37	chr10	21805483	21805484	+	In_Frame_Ins	INS	-	-	TCT																															ccccctcctcctcctcttccINStcctcctcctcctctccctc																										TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr10:21805483_21805484insTCT	ENST00000449193.2	-	4	3520_3521	c.1268_1269insAGA	c.(1267-1269)gag>gaAGAg	p.423_423E>EE	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.344_344E>EE|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	342						nucleus (GO:0005634)											cctcctcttcctcctcctcctc	0.629																																																	0																																										SO:0001652	inframe_insertion	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1268_1269insAGA	10.37:g.21805483_21805484insTCT	ENSP00000410041:p.Glu428dup		B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.427in_frame_insE	ENST00000449193.2	37	c.1269_1268	CCDS44363.1	10																																																																																			SKIDA1	-	NULL	ENSG00000180592		0.629	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2		0	46	0	-	NM_207371		21805484	-1	tier1		no_errors	ENST00000449193	ensembl	human	known	74_37	in_frame_ins	9.26	49	5	INS	0.410:0.996	TCT	TCT	21805484	-	TCT	21805483	7	5	132	1	0	1	1	0	0	0	0	0	1600	680	24	0	1461	0	C10orf140	10	21805483	In_Frame_Ins	INS	-	TCGA-LN-A9FO-01A-11D-A387-09	8641080	21805483	113729264	93	33825											
UBTD1	80019	genome.wustl.edu	37	chr10	99330073	99330073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcctgtccacgggcaaGgacgtgaggctcagcgccag	7	5	16	13	4	1	1	1	1	0	0	2	2	2	2	3	3	2	2	3	3	1	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr10:99330073G>T	ENST00000370664.3	+	3	813	c.477G>T	c.(475-477)aaG>aaT	p.K159N	ANKRD2_ENST00000298808.5_5'Flank|ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000307518.5_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	159	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									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)		CCACGGGCAAGGACGTGAGGC	0.692																																					Pancreas(100;169 2668 32720)												0													44	43	43					10																	99330073		2203	4299	6502	SO:0001583	missense	0			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.477G>T	10.37:g.99330073G>T	ENSP00000359698:p.Lys159Asn		D3DR57|Q53HI3	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.K159N	ENST00000370664.3	37	c.477	CCDS7465.1	10	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644763	0.29246	.	.	ENSG00000165886	ENST00000370664	T	0.76709	-1.04	5.34	3.51	0.40186	Ubiquitin supergroup (1);Ubiquitin (2);	0.093523	0.64402	D	0.000001	D	0.83871	0.5348	M	0.66378	2.025	0.50171	D	0.999859	D	0.63046	0.992	D	0.65140	0.932	T	0.81890	-0.0725	10	0.36615	T	0.2	-39.6175	11.6907	0.51514	0.145:0.0:0.855:0.0	.	159	Q9HAC8	UBTD1_HUMAN	N	159	ENSP00000359698:K159N	ENSP00000359698:K159N	K	+	3	2	UBTD1	99320063	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	3.382000	0.52463	0.777000	0.33496	-0.136000	0.14681	AAG	UBTD1	-	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	ENSG00000165886		0.692	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTD1	HGNC	protein_coding	OTTHUMT00000049701.1		0	64	0	G	NM_024954		99330073	1			no_errors	ENST00000370664	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	99330073	G	T	99330073	3	4	132	1	0	0	0	0	1	0	0	0	16956	991	35	3	487	3	UBTD1	10	99330073	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	77524590	99330073	36204674	94	33826											
PDZD7	79955	genome.wustl.edu	37	chr10	102778670	102778670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgggagactcagagagCgcagagtcaaggcggcggcc	9	5	17	10	3	3	3	2	0	1	3	3	5	3	3	1	4	1	1	1	4	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr10:102778670C>T	ENST00000370215.3	-	8	1458	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	411						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)		ACTCAGAGAGCGCAGAGTCAA	0.697											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													12	16	15					10																	102778670		2198	4294	6492	SO:0001819	synonymous_variant	0			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.1233G>A	10.37:g.102778670C>T		1369	D5FJ77|Q8N321	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A411	ENST00000370215.3	37	c.1233	CCDS31269.1	10																																																																																			PDZD7	-	NULL	ENSG00000186862		0.697	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	-	0	44	0	C	NM_024895		102778670	-1	tier1	-	no_errors	ENST00000370215	ensembl	human	known	74_37	silent	22.22	28	8	SNP	0.000	T	T	102778670	C	T	102778670	2	4	132	1	0	0	0	0	0	0	0	1	11743	755	27	1		1	PDZD7	10	102778670	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	3448597	102778670	32756077	95	33827											
TDRD1	56165	genome.wustl.edu	37	chr10	115981169	115981169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgccagtggataaaactAtacaagcaaatgtattagaa	19	10	7	5	0	0	1	0	0	0	1	0	2	0	2	1	1	4	2	1	1	10	6	rs376481564		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr10:115981169A>G	ENST00000369280.1	+	20	3284	c.2824A>G	c.(2824-2826)Ata>Gta	p.I942V	TDRD1_ENST00000369282.1_Missense_Mutation_p.I942V|TDRD1_ENST00000251864.2_Missense_Mutation_p.I942V|TDRD1_ENST00000369281.2_Missense_Mutation_p.I828V|TDRD1_ENST00000422662.1_Missense_Mutation_p.I546V			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	942					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)		GGATAAAACTATACAAGCAAA	0.363																																																	0								A	VAL/ILE	0,4406		0,0,2203	101	103	102		2824	-0.6	0.3	10		102	2,8598	2.2+/-6.3	0,2,4298	no	missense	TDRD1	NM_198795.1	29	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	benign	942/1190	115981169	2,13004	2203	4300	6503	SO:0001583	missense	0			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.2824A>G	10.37:g.115981169A>G	ENSP00000358286:p.Ile942Val		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.I942V	ENST00000369280.1	37	c.2824		10	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.166245	0.00318	0.0	2.33E-4	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97	5.92	-0.586	0.11694	Maternal tudor protein (1);	0.798511	0.11928	N	0.515947	T	0.02193	0.0068	N	0.01242	-0.935	0.09310	N	0.999999	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.003;0.002;0.002;0.001	T	0.42582	-0.9443	10	0.02654	T	1	-6.0444	2.1893	0.03894	0.3505:0.1144:0.4178:0.1173	.	546;942;828;942;828	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	V	942;942;828;546;942	ENSP00000358288:I942V;ENSP00000251864:I942V;ENSP00000358287:I828V;ENSP00000402794:I546V;ENSP00000358286:I942V	ENSP00000251864:I942V	I	+	1	0	TDRD1	115971159	0.000000	0.05858	0.308000	0.25141	0.056000	0.15407	-0.598000	0.05706	-0.135000	0.11495	-0.137000	0.14449	ATA	TDRD1	-	pfam_Tudor	ENSG00000095627		0.363	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	-	0	28	0	A			115981169	1	tier1	-	no_errors	ENST00000251864	ensembl	human	known	74_37	missense	29.51	43	18	SNP	0.287	G	G	115981169	A	G	115981169	3	3	132	1	0	0	0	0	1	0	0	0	15777	449	16	4	2898	4	TDRD1	10	115981169	Missense_Mutation	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	13202499	115981169	19553578	96	33828											
C10orf93	54777	genome.wustl.edu	37	chr10	134751079	134751079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagagaatatctgccggtAtttctgtggcacgtgagact	11	11	11	8	2	2	2	0	1	2	2	2	4	2	2	1	2	2	2	1	2	4	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr10:134751079A>G	ENST00000368586.5	-	6	737	c.637T>C	c.(637-639)Tac>Cac	p.Y213H	TTC40_ENST00000368582.2_Missense_Mutation_p.Y213H|TTC40_ENST00000368585.3_Missense_Mutation_p.Y213H	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATCTGCCGGTATTTCTGTGGC	0.433																																																	0													70	74	73					10																	134751079		2203	4300	6503	SO:0001583	missense	0																														ENST00000368586.5:c.637T>C	10.37:g.134751079A>G	ENSP00000357575:p.Tyr213His			Missense_Mutation	SNP	NULL	p.Y213H	ENST00000368586.5	37	c.637	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	A	17.27	3.347098	0.61183	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	D;D;D	0.82711	-1.64;-1.64;-1.64	4.68	4.68	0.58851	.	0.355542	0.22940	N	0.053793	D	0.90123	0.6914	M	0.73598	2.24	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.83471	0.0059	10	0.87932	D	0	.	13.4017	0.60887	1.0:0.0:0.0:0.0	.	213;213	Q5SR76-2;Q5SR76-1	.;.	H	213	ENSP00000357575:Y213H;ENSP00000357571:Y213H;ENSP00000357574:Y213H	ENSP00000357571:Y213H	Y	-	1	0	C10orf93	134601069	0.583000	0.26757	0.008000	0.14137	0.005000	0.04900	3.415000	0.52700	1.864000	0.54056	0.528000	0.53228	TAC	TTC40	-	NULL	ENSG00000171811		0.433	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	-	0	34	0	A			134751079	-1	tier1	-	no_errors	ENST00000368582	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.202	G	G	134751079	A	G	134751079	3	3	132	1	0	0	0	0	1	0	0	0	1630	449	16	4	596	4	C10orf93	10	134751079	Missense_Mutation	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	18769910	134751079	783668	97	33829											
NAP1L4	4676	genome.wustl.edu	37	chr11	2981115	2981115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaaagtagtcgttgggttCaaagtggaactctaacacaa	14	10	11	6	1	2	0	1	0	1	0	3	1	2	1	0	3	2	4	0	3	7	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr11:2981115C>T	ENST00000380542.4	-	9	771	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	NAP1L4_ENST00000526115.1_Missense_Mutation_p.E211K	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	211					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		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;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TCGTTGGGTTCAAAGTGGAAC	0.383																																																	0													125	112	116					11																	2981115		1845	4088	5933	SO:0001583	missense	0			AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.631G>A	11.37:g.2981115C>T	ENSP00000369915:p.Glu211Lys		B2R6J4|F5HFY4	Missense_Mutation	SNP	pfam_NAP_family	p.E211K	ENST00000380542.4	37	c.631	CCDS41599.1	11	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075207	0.55646	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115;ENST00000532325;ENST00000448187	T;T;T	0.25085	1.82;1.82;1.82	4.87	4.87	0.63330	.	0.104316	0.64402	D	0.000004	T	0.31702	0.0805	L	0.53729	1.69	0.58432	D	0.999994	P;B	0.36789	0.57;0.198	B;B	0.41666	0.363;0.1	T	0.03443	-1.1036	10	0.24483	T	0.36	-21.2683	18.2123	0.89874	0.0:1.0:0.0:0.0	.	211;211	F5HFY4;Q99733	.;NP1L4_HUMAN	K	211;211;211;96;223	ENSP00000369915:E211K;ENSP00000436397:E211K;ENSP00000387783:E223K	ENSP00000369915:E211K	E	-	1	0	NAP1L4	2937691	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.503000	0.66962	2.537000	0.85549	0.557000	0.71058	GAA	NAP1L4	-	pfam_NAP_family	ENSG00000205531		0.383	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L4	HGNC	protein_coding	OTTHUMT00000030273.3	-	0	63	0	C	NM_005969		2981115	-1	tier1	-	no_errors	ENST00000380542	ensembl	human	known	74_37	missense	63.75	29	51	SNP	1.000	T	T	2981115	C	T	2981115	3	4	132	1	0	0	0	0	1	0	0	0	10197	835	29	3	524	3	NAP1L4	11	2981115	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09		2981115	132025401	98	33830											
MYOD1	4654	genome.wustl.edu	37	chr11	17741729	17741729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcctttgagacactcaagCgctgcacgtcgagcaatcca	11	7	10	13	3	1	1	1	1	0	1	3	3	2	1	2	1	3	3	2	1	2	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr11:17741729C>T	ENST00000250003.3	+	1	615	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	134	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|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)|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 coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						GACACTCAAGCGCTGCACGTC	0.637																																																	0													45	31	36					11																	17741729		2199	4293	6492	SO:0001583	missense	0			AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"Basic helix-loop-helix proteins"	7611	protein-coding gene	gene with protein product	"myoblast determination protein 1"	159970	"myogenic factor 3"	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.400C>T	11.37:g.17741729C>T	ENSP00000250003:p.Arg134Cys		O75321	Missense_Mutation	SNP	pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.R134C	ENST00000250003.3	37	c.400	CCDS7826.1	11	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159958	0.78226	.	.	ENSG00000129152	ENST00000250003	D	0.98060	-4.69	4.88	4.88	0.63580	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99816	1.1044	10	0.87932	D	0	-30.8373	18.2189	0.89895	0.0:1.0:0.0:0.0	.	134	P15172	MYOD1_HUMAN	C	134	ENSP00000250003:R134C	ENSP00000250003:R134C	R	+	1	0	MYOD1	17698305	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	1.750000	0.38329	2.541000	0.85698	0.561000	0.74099	CGC	MYOD1	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000129152		0.637	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOD1	HGNC	protein_coding	OTTHUMT00000389387.1	-	0	55	0	C	NM_002478		17741729	1	tier1	-	no_errors	ENST00000250003	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	17741729	C	T	17741729	3	4	132	1	0	0	0	0	1	0	0	0	10126	768	27	1	402	1	MYOD1	11	17741729	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	14760614	17741729	117264787	99	33831											
ODZ4	26011	genome.wustl.edu	37	chr11	78381002	78381002	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgtggtgatgatctggttaaTgtcatagtaaatgacaccaa	13	13	10	5	0	2	3	1	3	1	0	2	3	2	3	1	2	0	2	1	2	5	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr11:78381002T>C	ENST00000278550.7	-	32	6850	c.6388A>G	c.(6388-6390)Att>Gtt	p.I2130V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2130					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)										ATCTGGTTAATGTCATAGTAA	0.463																																																	0													65	63	64					11																	78381002		2107	4227	6334	SO:0001583	missense	0			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.6388A>G	11.37:g.78381002T>C	ENSP00000278550:p.Ile2130Val		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.I2130V	ENST00000278550.7	37	c.6388	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327114	0.60743	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89415	-2.51;0.97	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.92844	0.7724	M	0.71581	2.175	0.58432	D	0.999994	P	0.48640	0.913	P	0.61592	0.891	D	0.92611	0.6099	9	.	.	.	.	14.6241	0.68608	0.0:0.0:0.0:1.0	.	2130	Q6N022	TEN4_HUMAN	V	2130;594	ENSP00000278550:I2130V;ENSP00000431711:I594V	.	I	-	1	0	ODZ4	78058650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.100000	0.63781	0.533000	0.62120	ATT	TENM4	-	NULL	ENSG00000149256		0.463	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	37	0	T			78381002	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	48.00	13	12	SNP	1.000	C	C	78381002	T	C	78381002	3	2	132	1	0	0	0	0	1	0	0	0	10876	1464	51	4	1933	4	ODZ4	11	78381002	Missense_Mutation	SNP	T	TCGA-LN-A9FO-01A-11D-A387-09	60639273	78381002	56625514	100	33832											
NAALAD2	10003	genome.wustl.edu	37	chr11	89882266	89882266	+	Silent	SNP	C	C	A	0	0	0	1	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	aatgctttctcagcccaaggCatgccagaggtaaaataaaa	16	8	8	9	0	1	1	1	0	1	1	2	1	1	1	2	2	3	3	2	2	6	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr11:89882266C>A	ENST00000534061.1	+	4	704	c.474C>A	c.(472-474)ggC>ggA	p.G158G	NAALAD2_ENST00000321955.4_Silent_p.G158G|NAALAD2_ENST00000375944.3_Silent_p.G158G|NAALAD2_ENST00000525171.1_Silent_p.G158G	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	158					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)				CAGCCCAAGGCATGCCAGAGG	0.363																																																	0													70	71	70					11																	89882266		2195	4284	6479	SO:0001819	synonymous_variant	0			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.474C>A	11.37:g.89882266C>A			B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.G158	ENST00000534061.1	37	c.474	CCDS8288.1	11																																																																																			NAALAD2	-	pfam_Protease-assoc_domain	ENSG00000077616		0.363	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	-	0	117	0	C	NM_005467		89882266	1	tier1	-	no_errors	ENST00000534061	ensembl	human	known	74_37	silent	57.86	59	81	SNP	0.482	A	A	89882266	C	A	89882266	2	1	132	1	0	0	0	0	0	0	0	1	10166	697	25	3		3	NAALAD2	11	89882266	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	11501264	89882266	45124250	101	33833											
FAT3	120114	genome.wustl.edu	37	chr11	92532036	92532036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccaaggatcactacatgCtgatagttaaggtgtctgat	11	13	9	8	0	3	2	1	2	2	0	4	3	3	3	1	2	2	2	1	2	4	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr11:92532036C>A	ENST00000298047.6	+	9	5874	c.5857C>A	c.(5857-5859)Ctg>Atg	p.L1953M	FAT3_ENST00000409404.2_Missense_Mutation_p.L1953M|FAT3_ENST00000525166.1_Missense_Mutation_p.L1803M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1953	Cadherin 17. {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)				TCACTACATGCTGATAGTTAA	0.413										TCGA Ovarian(4;0.039)																																							0													95	90	92					11																	92532036		1904	4130	6034	SO:0001583	missense	0			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.5857C>A	11.37:g.92532036C>A	ENSP00000298047:p.Leu1953Met		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L1953M	ENST00000298047.6	37	c.5857		11	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290519	0.40494	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.71341	-0.56;-0.56;-0.56	6.02	2.99	0.34606	.	.	.	.	.	T	0.81211	0.4775	M	0.80332	2.49	0.80722	D	1	D	0.65815	0.995	D	0.63793	0.918	T	0.80739	-0.1248	9	0.87932	D	0	.	9.8042	0.40783	0.0:0.7639:0.0:0.2361	.	1953	Q8TDW7-3	.	M	1953;1953;1803	ENSP00000298047:L1953M;ENSP00000387040:L1953M;ENSP00000432586:L1803M	ENSP00000298047:L1953M	L	+	1	2	FAT3	92171684	1.000000	0.71417	0.967000	0.41034	0.989000	0.77384	1.904000	0.39868	0.350000	0.24002	0.655000	0.94253	CTG	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.413	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	25	0	C	NM_001008781		92532036	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	58.33	10	14	SNP	1.000	A	A	92532036	C	A	92532036	3	1	132	1	0	0	0	0	1	0	0	0	5713	796	28	3	5891	3	FAT3	11	92532036	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	2649770	92532036	42474480	102	33834											
BCL9L	283149	genome.wustl.edu	37	chr11	118770824	118770824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctggggaggaagtgaatgGtaggctggggttcatgaggc	8	9	20	4	0	2	2	1	2	1	0	2	4	2	4	0	8	0	3	0	8	3	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr11:118770824G>T	ENST00000334801.3	-	7	4172	c.3208C>A	c.(3208-3210)Cca>Aca	p.P1070T	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1070	Pro-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)		GAAGTGAATGGTAGGCTGGGG	0.637																																																	0													109	104	106					11																	118770824		2200	4295	6495	SO:0001583	missense	0			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.3208C>A	11.37:g.118770824G>T	ENSP00000335320:p.Pro1070Thr		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P1070T	ENST00000334801.3	37	c.3208	CCDS8403.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.34|17.34	3.365856|3.365856	0.61513|0.61513	.|.	.|.	ENSG00000186174|ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085|ENST00000530293	T|.	0.49139|.	0.79|.	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	0.000000|.	0.50627|.	D|.	0.000108|.	T|.	0.52141|.	0.1716|.	L|L	0.29908|0.29908	0.895|0.895	0.41569|0.41569	D|D	0.988672|0.988672	B;B|.	0.32573|.	0.376;0.259|.	B;B|.	0.31686|.	0.134;0.063|.	T|.	0.48317|.	-0.9046|.	10|.	0.72032|.	D|.	0.01|.	-8.7603|-8.7603	12.2803|12.2803	0.54760|0.54760	0.0:0.0:0.8306:0.1694|0.0:0.0:0.8306:0.1694	.|.	1065;1070|.	Q86UU0-2;Q86UU0|.	.;BCL9L_HUMAN|.	T|X	1070;1033;363;1070;1070|89	ENSP00000335320:P1070T|.	ENSP00000335320:P1070T|.	P|Y	-|-	1|3	0|2	BCL9L|BCL9L	118276034|118276034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.987000|5.987000	0.70571|0.70571	2.262000|2.262000	0.75019|0.75019	0.561000|0.561000	0.74099|0.74099	CCA|TAC	BCL9L	-	NULL	ENSG00000186174		0.637	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1		0	57	0	G	NM_182557		118770824	-1			no_errors	ENST00000334801	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	118770824	G	T	118770824	3	4	132	1	0	0	0	0	1	0	0	0	1383	1261	44	3	1299	3	BCL9L	11	118770824	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	26238788	118770824	16235692	103	33835											
VWF	7450	genome.wustl.edu	37	chr12	6161849	6161849	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcagccctccaggcaGgcctcattgcattcctcatc	9	8	8	16	0	2	1	2	0	0	1	5	1	4	1	4	2	3	3	4	2	1	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr12:6161849G>T	ENST00000261405.5	-	16	2300	c.2046C>A	c.(2044-2046)gcC>gcA	p.A682A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	682	TIL 2.				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)	CCTCCAGGCAGGCCTCATTGC	0.622																																																	0													60	57	58					12																	6161849		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2046C>A	12.37:g.6161849G>T			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.A682	ENST00000261405.5	37	c.2046	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF,pfam_TIL_dom,superfamily_TIL_dom	ENSG00000110799		0.622	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1		0	61	0	G	NM_000552		6161849	-1			no_errors	ENST00000261405	ensembl	human	known	74_37	silent	7.81	59	5	SNP	0.984	T	T	6161849	G	T	6161849	2	4	132	1	0	0	0	0	0	0	0	1	17295	987	35	3		3	VWF	12	6161849	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09		6161849	127690046	104	33836											
CCDC65	85478	genome.wustl.edu	37	chr12	49298842	49298842	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacttcataaggacattgaGatcctcagccaaacatttga	15	10	7	9	0	2	2	2	2	0	1	3	5	3	3	2	1	3	0	2	1	3	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr12:49298842G>C	ENST00000320516.4	+	2	434	c.246G>C	c.(244-246)gaG>gaC	p.E82D	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.E82D	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	82										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGGACATTGAGATCCTCAGCC	0.453																																																	0													178	145	157					12																	49298842		2203	4300	6503	SO:0001583	missense	0				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.246G>C	12.37:g.49298842G>C	ENSP00000312706:p.Glu82Asp		A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	NULL	p.E82D	ENST00000320516.4	37	c.246	CCDS8772.1	12	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547423	0.65311	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.37411	1.2;4.29;1.21	5.0	3.1	0.35709	.	0.312795	0.33772	N	0.004573	T	0.47673	0.1458	L	0.56124	1.755	0.34898	D	0.746217	D	0.69078	0.997	D	0.64042	0.921	T	0.56414	-0.7983	10	0.34782	T	0.22	-26.0924	9.7827	0.40658	0.1709:0.0:0.8291:0.0	.	82	Q8IXS2	CCD65_HUMAN	D	82	ENSP00000266984:E82D;ENSP00000446569:E82D;ENSP00000312706:E82D	ENSP00000266984:E82D	E	+	3	2	CCDC65	47585109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.939000	0.40213	0.758000	0.33059	0.655000	0.94253	GAG	CCDC65	-	NULL	ENSG00000139537		0.453	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC65	HGNC	protein_coding	OTTHUMT00000408922.1	-	0	25	0	G	NM_033124		49298842	1	tier1	-	no_errors	ENST00000266984	ensembl	human	known	74_37	missense	32.73	37	18	SNP	1.000	C	C	49298842	G	C	49298842	3	2	132	1	0	0	0	0	1	0	0	0	2844	933	33	5	252	5	CCDC65	12	49298842	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	43136993	49298842	84553053	105	33837											
MLL2	8085	genome.wustl.edu	37	chr12	49431850	49431850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagggggagggcgctcctCagggcccaagggtcctggct	6	5	18	12	1	1	0	1	0	0	0	3	1	3	1	3	6	1	3	3	6	1	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr12:49431850C>T	ENST00000301067.7	-	34	9288	c.9289G>A	c.(9289-9291)Gag>Aag	p.E3097K	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3097					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)										GGGCGCTCCTCAGGGCCCAAG	0.642																																																	0													30	30	30					12																	49431850		1965	4143	6108	SO:0001583	missense	0			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.9289G>A	12.37:g.49431850C>T	ENSP00000301067:p.Glu3097Lys		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E3097K	ENST00000301067.7	37	c.9289	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809660	0.31961	.	.	ENSG00000167548	ENST00000301067	T	0.81163	-1.46	5.2	5.2	0.72013	.	0.000000	0.39020	N	0.001494	T	0.70527	0.3234	N	0.14661	0.345	0.30681	N	0.752357	P	0.47409	0.895	P	0.46975	0.533	T	0.74041	-0.3792	10	0.87932	D	0	.	10.1962	0.43056	0.0:0.9082:0.0:0.0918	.	3097	O14686	MLL2_HUMAN	K	3097	ENSP00000301067:E3097K	ENSP00000301067:E3097K	E	-	1	0	MLL2	47718117	0.998000	0.40836	0.998000	0.56505	0.993000	0.82548	4.419000	0.59835	2.597000	0.87782	0.655000	0.94253	GAG	KMT2D	-	NULL	ENSG00000167548		0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	101	0	C			49431850	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	5.19	127	7	SNP	0.997	T	T	49431850	C	T	49431850	3	4	132	1	0	0	0	0	1	0	0	0	9659	835	29	3	7408	3	MLL2	12	49431850	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	133008	49431850	84420045	106	33838											
KRT77	374454	genome.wustl.edu	37	chr12	53086350	53086350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctccaggtcctgcaGcttctgccacgcatcctgga	5	9	10	17	1	1	0	0	0	1	0	5	1	5	1	6	3	3	3	6	3	0	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr12:53086350G>T	ENST00000341809.3	-	7	1310	c.1282C>A	c.(1282-1284)Ctg>Atg	p.L428M	KRT77_ENST00000537195.1_Missense_Mutation_p.L195M|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	428	Coil 2.|Rod.					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						AGGTCCTGCAGCTTCTGCCAC	0.612																																																	0													46	42	43					12																	53086350		2202	4271	6473	SO:0001583	missense	0			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.1282C>A	12.37:g.53086350G>T	ENSP00000342710:p.Leu428Met		Q7RTS8	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.L428M	ENST00000341809.3	37	c.1282	CCDS8837.1	12	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966552	0.34659	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	D;D	0.90444	-2.67;-2.67	4.29	3.39	0.38822	Filament (1);	.	.	.	.	D	0.95162	0.8432	M	0.84683	2.71	0.32592	N	0.527033	D	0.60575	0.988	D	0.70935	0.971	D	0.95775	0.8812	9	0.62326	D	0.03	.	13.6702	0.62420	0.0:0.0:0.8438:0.1562	.	428	Q7Z794	K2C1B_HUMAN	M	428;195	ENSP00000342710:L428M;ENSP00000440803:L195M	ENSP00000342710:L428M	L	-	1	2	KRT77	51372617	1.000000	0.71417	0.655000	0.29622	0.037000	0.13140	3.400000	0.52594	0.910000	0.36722	0.407000	0.27541	CTG	KRT77	-	pfam_IF,prints_Keratin_II	ENSG00000189182		0.612	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT77	HGNC	protein_coding	OTTHUMT00000404111.1	-	0	36	0	G	NM_175078		53086350	-1	tier1	-	no_errors	ENST00000341809	ensembl	human	known	74_37	missense	40.54	22	15	SNP	1.000	T	T	53086350	G	T	53086350	3	4	132	1	0	0	0	0	1	0	0	0	8517	962	34	3	466	3	KRT77	12	53086350	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	3654500	53086350	80765545	107	33839											
AVPR1A	552	genome.wustl.edu	37	chr12	63541286	63541286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttgttgaatttttcCttcatgttttggcagcatgg	5	21	8	7	0	3	1	1	1	2	0	4	1	4	1	1	2	1	4	1	2	1	8			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr12:63541286C>A	ENST00000299178.2	-	2	1215	c.1110G>T	c.(1108-1110)aaG>aaT	p.K370N		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	370					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TGAATTTTTCCTTCATGTTTT	0.403																																																	0													199	190	193					12																	63541286		2203	4300	6503	SO:0001583	missense	0			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.1110G>T	12.37:g.63541286C>A	ENSP00000299178:p.Lys370Asn			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.K370N	ENST00000299178.2	37	c.1110	CCDS8965.1	12	.	.	.	.	.	.	.	.	.	.	C	1.503	-0.551447	0.03996	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.38077	1.16;1.16	6.06	4.14	0.48551	.	0.652152	0.15926	N	0.237914	T	0.29524	0.0736	L	0.42487	1.325	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.17961	-1.0352	9	.	.	.	-4.6033	10.305	0.43674	0.1324:0.795:0.0:0.0726	.	370	P37288	V1AR_HUMAN	N	151;370	ENSP00000449822:K151N;ENSP00000299178:K370N	.	K	-	3	2	AVPR1A	61827553	0.971000	0.33674	0.017000	0.16124	0.002000	0.02628	0.695000	0.25527	0.797000	0.33971	0.655000	0.94253	AAG	AVPR1A	-	prints_Vprs_V1A_rcpt	ENSG00000166148		0.403	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1A	HGNC	protein_coding	OTTHUMT00000406734.1	-	0	52	0	C			63541286	-1	tier1	-	no_errors	ENST00000299178	ensembl	human	known	74_37	missense	27.03	54	20	SNP	0.116	A	A	63541286	C	A	63541286	3	1	132	1	0	0	0	0	1	0	0	0	1232	680	24	3	150	3	AVPR1A	12	63541286	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	10454936	63541286	70310609	108	33840											
TMBIM4	51643	genome.wustl.edu	37	chr12	66539653	66539653	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctgaaatccttcttagaTtgtagagtatacacagtcaa	13	14	7	7	0	2	3	1	1	1	2	3	3	3	3	1	0	2	3	1	0	6	7			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr12:66539653T>C	ENST00000358230.3	-	5	552	c.432A>G	c.(430-432)caA>caG	p.Q144Q	TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Silent_p.Q144Q|TMBIM4_ENST00000286424.7_Silent_p.Q191Q|TMBIM4_ENST00000539652.1_Silent_p.Q144Q|TMBIM4_ENST00000542724.1_Silent_p.Q113Q|TMBIM4_ENST00000556010.1_Silent_p.Q144Q	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	144					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)		CCTTCTTAGATTGTAGAGTAT	0.289																																																	0													67	65	65					12																	66539653		1799	4060	5859	SO:0001819	synonymous_variant	0			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.432A>G	12.37:g.66539653T>C			Q542Z6|Q9UHY5|Q9Y3C2	Silent	SNP	pfam_Bax_inhibitor_1-related	p.Q144	ENST00000358230.3	37	c.432	CCDS41805.1	12																																																																																			TMBIM4	-	pfam_Bax_inhibitor_1-related	ENSG00000155957		0.289	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2	-	0	53	0	T	NM_016056		66539653	-1	tier1	-	no_errors	ENST00000358230	ensembl	human	known	74_37	silent	24.78	83	28	SNP	1.000	C	C	66539653	T	C	66539653	2	2	132	1	0	0	0	0	0	0	0	1	16029	1490	52	4		4	TMBIM4	12	66539653	Silent	SNP	T	TCGA-LN-A9FO-01A-11D-A387-09	2998367	66539653	67312242	109	33841											
CPSF6	11052	genome.wustl.edu	37	chr12	69656329	69656329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgagagcgcgaatatcGtcatcgttagaaggtgggta	11	9	14	7	5	1	3	1	1	0	2	3	5	1	3	1	2	1	2	1	2	5	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr12:69656329G>T	ENST00000435070.2	+	9	1756	c.1646G>T	c.(1645-1647)cGt>cTt	p.R549L	CPSF6_ENST00000456847.3_Missense_Mutation_p.R476L|CPSF6_ENST00000266679.8_Missense_Mutation_p.R586L|CPSF6_ENST00000551516.1_Missense_Mutation_p.V52F	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	549	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)	p.R549H(2)		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)			cgCGAATATCGTCATCGTTAG	0.463																																																	2	Substitution - Missense(2)	large_intestine(2)											197	133	155					12																	69656329		2203	4300	6503	SO:0001583	missense	0			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.1646G>T	12.37:g.69656329G>T	ENSP00000391774:p.Arg549Leu		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R586L	ENST00000435070.2	37	c.1757	CCDS8988.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.299485|4.299485	0.81136|0.81136	.|.	.|.	ENSG00000111605|ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679|ENST00000551516	T;T;T|.	0.72167|.	-0.63;-0.63;-0.63|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71358|0.71358	0.3330|0.3330	L|L	0.52573|0.52573	1.65|1.65	0.41967|0.41967	D|D	0.990732|0.990732	B;B;B|.	0.33103|.	0.023;0.397;0.276|.	B;B;B|.	0.29524|.	0.031;0.103;0.048|.	T|T	0.66348|0.66348	-0.5946|-0.5946	9|5	.|.	.|.	.|.	-9.6562|-9.6562	19.9374|19.9374	0.97146|0.97146	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	298;586;549|.	B4DSU9;Q16630-2;Q16630|.	.;.;CPSF6_HUMAN|.	L|F	549;476;586|52	ENSP00000391774:R549L;ENSP00000391437:R476L;ENSP00000266679:R586L|.	.|.	R|V	+|+	2|1	0|0	CPSF6|CPSF6	67942596|67942596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.869000|9.869000	0.99810|0.99810	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CGT|GTC	CPSF6	-	NULL	ENSG00000111605		0.463	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1		0	41	0	G	NM_007007		69656329	1			no_errors	ENST00000266679	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T	T	69656329	G	T	69656329	3	4	132	1	0	0	0	0	1	0	0	0	3836	1145	40	2	1680	2	CPSF6	12	69656329	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	3116676	69656329	64195566	110	33842											
ACSS3	79611	genome.wustl.edu	37	chr12	81624851	81624851	+	Silent	SNP	T	T	C	0	1	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	ataaggttaccattgccaccTggggctttttcaggactctg	8	13	10	10	0	2	0	1	0	1	0	2	1	2	1	3	4	2	2	3	4	2	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr12:81624851T>C	ENST00000548058.1	+	12	2440	c.1530T>C	c.(1528-1530)ccT>ccC	p.P510P	ACSS3_ENST00000548324.1_Silent_p.P192P|ACSS3_ENST00000261206.3_Silent_p.P509P			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	510						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						CATTGCCACCTGGGGCTTTTT	0.308																																																	0													65	67	66					12																	81624851		2203	4299	6502	SO:0001819	synonymous_variant	0				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.1530T>C	12.37:g.81624851T>C			Q8NC66	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.P510	ENST00000548058.1	37	c.1530	CCDS9022.1	12																																																																																			ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.308	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0	50	0	T	NM_024560		81624851	1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	silent	33.61	81	41	SNP	0.994	C	C	81624851	T	C	81624851	2	2	132	1	0	0	0	0	0	0	0	1	190	1567	55	4		4	ACSS3	12	81624851	Silent	SNP	T	TCGA-LN-A9FO-01A-11D-A387-09	11968522	81624851	52227044	111	33843											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85638645	85638646	+	Frame_Shift_Ins	INS	-	-	A																															tgctttgtctgtgaacagagINSaaaaaaaaaatcaggcacac																								rs5799725|rs398102301	byFrequency	TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr12:85638645_85638646insA	ENST00000393217.2	+	27	5156_5157	c.5095_5096insA	c.(5095-5097)gaafs	p.E1699fs	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1699										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGTGAACAGAGAAAAAAAAAAT	0.391																																																	0																																										SO:0001589	frameshift_variant	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.5105dupA	12.37:g.85638655_85638655dupA	ENSP00000376910:p.Glu1699fs		Q567P4|Q9BS17|Q9HA36	Frame_Shift_Ins	INS	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.N1702fs	ENST00000393217.2	37	c.5095_5096	CCDS41816.1	12																																																																																			LRRIQ1	-	NULL	ENSG00000133640		0.391	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2		0	30	0	-	NM_032165		85638646	1	tier1		no_errors	ENST00000393217	ensembl	human	known	74_37	frame_shift_ins	11.90	37	5	INS	1.000:1.000	A	A	85638646	-	A	85638645	7	5	132	1	0	1	1	0	0	0	0	0	9064	943	33	0	5201	0	LRRIQ1	12	85638645	Frame_Shift_Ins	INS	-	TCGA-LN-A9FO-01A-11D-A387-09	4013794	85638645	48213250	112	33844											
ANO4	121601	genome.wustl.edu	37	chr12	101505402	101505402	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttatcacaaatgcatttgtCatagcgataacatctgactt	13	14	6	8	1	3	1	2	1	1	0	3	2	3	1	0	0	3	2	0	0	4	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr12:101505402C>G	ENST00000392977.3	+	24	2574	c.2364C>G	c.(2362-2364)gtC>gtG	p.V788V	ANO4_ENST00000550015.1_Silent_p.V308V|ANO4_ENST00000392979.3_Silent_p.V753V|ANO4_ENST00000299222.9_Silent_p.V308V			Q32M45	ANO4_HUMAN	anoctamin 4	788					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATGCATTTGTCATAGCGATAA	0.383										HNSCC(74;0.22)																																							0													143	131	135					12																	101505402		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2364C>G	12.37:g.101505402C>G			Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	pfam_Anoctamin	p.V788	ENST00000392977.3	37	c.2364		12																																																																																			ANO4	-	pfam_Anoctamin	ENSG00000151572		0.383	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	-	0	36	0	C	NM_178826		101505402	1	tier1	-	no_errors	ENST00000392977	ensembl	human	known	74_37	silent	15.38	55	10	SNP	1.000	G	G	101505402	C	G	101505402	2	3	132	1	0	0	0	0	0	0	0	1	699	813	29	5		5	ANO4	12	101505402	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	15866757	101505402	32346493	113	33845											
UNG	7374	genome.wustl.edu	37	chr12	109547654	109547654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcggcaccatgtactacaGacggctcatccctccccttt	9	9	7	16	2	1	1	1	0	0	1	3	1	3	1	4	2	3	3	4	2	3	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr12:109547654G>A	ENST00000242576.2	+	7	928	c.822G>A	c.(820-822)caG>caA	p.Q274Q	RP11-968O1.5_ENST00000541704.2_RNA|UNG_ENST00000336865.2_Silent_p.Q265Q	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						ATGTACTACAGACGGCTCATC	0.413								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																								0													132	131	131					12																	109547654		2203	4300	6503	SO:0001819	synonymous_variant	0	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.822G>A	12.37:g.109547654G>A				Silent	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse	p.Q274	ENST00000242576.2	37	c.822	CCDS9124.1	12	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736024	0.49045	.	.	ENSG00000076248	ENST00000542183	.	.	.	5.82	4.93	0.64822	.	.	.	.	.	T	0.67429	0.2892	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70666	-0.4809	5	0.87932	D	0	-35.0822	10.1796	0.42959	0.1501:0.0:0.8499:0.0	.	.	.	.	K	28	.	ENSP00000438623:R28K	R	+	2	0	UNG	108032037	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.442000	0.59988	1.473000	0.48159	0.561000	0.74099	AGA	UNG	-	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse	ENSG00000076248		0.413	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNG	HGNC	protein_coding	OTTHUMT00000403067.1	-	0	80	0	G	NM_080911		109547654	1	tier1	-	no_errors	ENST00000242576	ensembl	human	known	74_37	silent	33.07	85	42	SNP	1.000	A	A	109547654	G	A	109547654	2	1	132	1	0	0	0	0	0	0	0	1	17048	933	33	3		3	UNG	12	109547654	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	8042252	109547654	24304241	114	33846											
CUX2	23316	genome.wustl.edu	37	chr12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-																															cctccgtgtcgccctcgctgTcctcctcctcctcctctggc																										TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.				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						GCCCTCGCTGTCCTCCTCCTCCT	0.749																																																	0										26,3520		1,24,1748						0.6	1			21	65,7379		5,55,3662	no	coding	CUX2	NM_015267.3		6,79,5410	A1A1,A1R,RR		0.8732,0.7332,0.828				91,10899				SO:0001651	inframe_deletion	0			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.2422_2424delTCC	12.37:g.111758244_111758246delTCC	ENSP00000261726:p.Ser813del		A7E2Y4	In_Frame_Del	DEL	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.S811in_frame_del	ENST00000261726.6	37	c.2422_2424	CCDS41837.1	12																																																																																			CUX2	-	NULL	ENSG00000111249		0.749	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1		0	18	0	TCC	NM_015267		111758237	1	tier1		no_errors	ENST00000261726	ensembl	human	known	74_37	in_frame_del	16.67	20	4	DEL	1.000:1.000:1.000	-	-	111758237	TCC	-	111758235	7	5	132	1	0	1	0	1	0	0	0	0	4074	1667	58	0	2488	0	CUX2	12	111758235	In_Frame_Del	DEL	TCC	TCGA-LN-A9FO-01A-11D-A387-09	2210581	111758235	22093660	115	33847											
TPTE2	93492	genome.wustl.edu	37	chr13	20025336	20025336	+	Silent	SNP	A	A	G	1	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	tagactcgatagtggtttcgAtgtttcttatctagaaaccg	10	15	9	7	3	2	2	0	0	2	2	4	4	2	2	1	1	1	2	1	1	5	6	rs545861513	byFrequency	TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr13:20025336A>G	ENST00000400230.2	-	11	815	c.771T>C	c.(769-771)caT>caC	p.H257H	TPTE2_ENST00000255310.6_Silent_p.H180H|TPTE2_ENST00000390680.2_Silent_p.H180H|TPTE2_ENST00000457266.2_Silent_p.H146H|TPTE2_ENST00000382977.4_Silent_p.H257H|TPTE2_ENST00000382975.4_Silent_p.H217H|TPTE2_ENST00000382978.1_Silent_p.H217H|TPTE2_ENST00000400103.2_Silent_p.H146H			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	257	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGTGGTTTCGATGTTTCTTAT	0.358													a|||	6	0.00119808	0.003	0.0014	5008	,	,		20859	0		0.001	False		,,,				2504	0																0													132	116	122					13																	20025336		2203	4299	6502	SO:0001819	synonymous_variant	0			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.771T>C	13.37:g.20025336A>G			A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.H257	ENST00000400230.2	37	c.771	CCDS45014.1	13																																																																																			TPTE2	-	pfscan_Phosphatase_tensin-typ	ENSG00000132958		0.358	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding			0	58	0	A	NM_199254		20025336	-1			no_errors	ENST00000382977	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.040	G	G	20025336	A	G	20025336	2	3	132	1	0	0	0	0	0	0	0	1	16479	330	12	4		4	TPTE2	13	20025336	Silent	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09		20025336	95144542	116	33848											
MYCBP2	23077	genome.wustl.edu	37	chr13	77641876	77641876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatacccagcttattccagtCtcctttctctgttgagtgaa	8	15	7	11	0	2	2	0	2	2	0	5	3	3	2	3	0	2	2	3	0	3	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr13:77641876C>G	ENST00000544440.2	-	71	12198	c.12181G>C	c.(12181-12183)Gac>Cac	p.D4061H	MYCBP2_ENST00000357337.6_Missense_Mutation_p.D4061H|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D4099H					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)		TTATTCCAGTCTCCTTTCTCT	0.473																																																	0													219	212	215					13																	77641876		2203	4300	6503	SO:0001583	missense	0			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.12181G>C	13.37:g.77641876C>G	ENSP00000444596:p.Asp4061His			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.D4099H	ENST00000544440.2	37	c.12295		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.831669|4.831669	0.91036|0.91036	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.34667|.	1.36;1.35;1.36|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71668|0.71668	0.3367|0.3367	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	P|.	0.62885|.	0.908|.	T|T	0.65768|0.65768	-0.6088|-0.6088	10|5	0.72032|.	D|.	0.01|.	.|.	20.3812|20.3812	0.98933|0.98933	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4061|.	O75592|.	MYCB2_HUMAN|.	H|T	4061;4099;4061|481	ENSP00000349892:D4061H;ENSP00000384288:D4099H;ENSP00000444596:D4061H|.	ENSP00000349892:D4061H|.	D|R	-|-	1|2	0|0	MYCBP2|MYCBP2	76539877|76539877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.814000|7.814000	0.86154|0.86154	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	GAC|AGA	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.473	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	50	0	C	NM_015057		77641876	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	70.27	22	52	SNP	1.000	G	G	77641876	C	G	77641876	3	3	132	1	0	0	0	0	1	0	0	0	10056	913	32	5	1793	5	MYCBP2	13	77641876	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	57616540	77641876	37528002	117	33849											
SLITRK5	26050	genome.wustl.edu	37	chr13	88327729	88327729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagactctagcgtttgCtgtaacatctctcgtccttt	6	15	8	12	2	2	1	0	0	2	1	5	1	3	1	1	0	4	5	1	0	2	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr13:88327729C>T	ENST00000325089.6	+	2	305	c.86C>T	c.(85-87)gCt>gTt	p.A29V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	29					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTAGCGTTTGCTGTAACATCT	0.453																																																	0													150	128	136					13																	88327729		2203	4300	6503	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.86C>T	13.37:g.88327729C>T	ENSP00000366283:p.Ala29Val		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A29V	ENST00000325089.6	37	c.86	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851510	0.32699	.	.	ENSG00000165300	ENST00000325089	T	0.57752	0.38	5.94	5.94	0.96194	.	0.194815	0.40728	N	0.001035	T	0.39600	0.1084	N	0.20685	0.6	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.16778	-1.0391	9	.	.	.	-1.9664	17.8571	0.88767	0.0:1.0:0.0:0.0	.	29	O94991	SLIK5_HUMAN	V	29	ENSP00000366283:A29V	.	A	+	2	0	SLITRK5	87125730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.564000	0.67359	2.826000	0.97356	0.561000	0.74099	GCT	SLITRK5	-	NULL	ENSG00000165300		0.453	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0	35	0	C			88327729	1	tier1	-	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	88327729	C	T	88327729	3	4	132	1	0	0	0	0	1	0	0	0	14791	797	28	3	88	3	SLITRK5	13	88327729	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	10685853	88327729	26842149	118	33850											
ABCC4	10257	genome.wustl.edu	37	chr13	95696000	95696000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggttagcacggtgcagtggGcaaatttctcccggattttt	7	14	12	8	2	1	0	0	0	1	0	2	1	1	1	1	4	2	4	1	4	2	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr13:95696000G>A	ENST00000376887.4	-	29	3785	c.3671C>T	c.(3670-3672)gCc>gTc	p.A1224V	ABCC4_ENST00000412704.1_Missense_Mutation_p.A1177V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1224	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GGTGCAGTGGGCAAATTTCTC	0.393																																																	0													149	139	143					13																	95696000		2203	4300	6503	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3671C>T	13.37:g.95696000G>A	ENSP00000366084:p.Ala1224Val		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM	p.A1224V	ENST00000376887.4	37	c.3671	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514312	0.44763	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	T;T	0.80824	-1.42;-1.42	5.8	3.83	0.44106	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.574622	0.18988	N	0.125685	T	0.73822	0.3636	L	0.39085	1.19	0.80722	D	1	B;B	0.14805	0.001;0.011	B;B	0.13407	0.003;0.009	T	0.70414	-0.4878	10	0.48119	T	0.1	.	15.6662	0.77230	0.0:0.0:0.6933:0.3067	.	1177;1224	O15439-2;O15439	.;MRP4_HUMAN	V	1177;1224	ENSP00000388657:A1177V;ENSP00000366084:A1224V	ENSP00000366084:A1224V	A	-	2	0	ABCC4	94494001	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.595000	0.46197	1.377000	0.46286	0.650000	0.86243	GCC	ABCC4	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000125257		0.393	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2		0	48	0	G	NM_005845		95696000	-1			no_errors	ENST00000376887	ensembl	human	known	74_37	missense	5.26	71	4	SNP	0.996	A	A	95696000	G	A	95696000	3	1	132	1	0	0	0	0	1	0	0	0	55	1203	42	3	318	3	ABCC4	13	95696000	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	7368271	95696000	19473878	119	33851											
NYNRIN	57523	genome.wustl.edu	37	chr14	24880348	24880348	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcagtttttctggaaccgGggacaccgagaggtcactgt	8	10	14	9	2	2	1	1	0	1	1	2	4	2	3	2	4	2	2	2	4	1	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr14:24880348G>T	ENST00000382554.3	+	5	2799	c.2481G>T	c.(2479-2481)cgG>cgT	p.R827R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	827					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						TCTGGAACCGGGGACACCGAG	0.597											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95	105	102					14																	24880348		2090	4227	6317	SO:0001819	synonymous_variant	0			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.2481G>T	14.37:g.24880348G>T		774	Q6P153|Q86TR3|Q9HAC4	Silent	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.R827	ENST00000382554.3	37	c.2481	CCDS45090.1	14																																																																																			NYNRIN	-	pfam_RNase_Zc3h12	ENSG00000205978		0.597	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	-	0	50	0	G			24880348	1	tier1	-	no_errors	ENST00000382554	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.936	T	T	24880348	G	T	24880348	2	4	132	1	0	0	0	0	0	0	0	1	10835	1219	43	3		3	NYNRIN	14	24880348	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09		24880348	82469192	120	33852											
GPR135	64582	genome.wustl.edu	37	chr14	59930820	59930820	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggccccattggcccaggtCagccagacggccaccacgct	8	5	11	17	2	1	1	1	0	0	1	1	1	1	1	6	4	1	1	6	4	0	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr14:59930820C>T	ENST00000395116.1	-	1	1240	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	375						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TGGCCCAGGTCAGCCAGACGG	0.672																																																	0													29	25	26					14																	59930820		2194	4294	6488	SO:0001819	synonymous_variant	0			AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"GPCR / Class A : Orphans"	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.1125G>A	14.37:g.59930820C>T			Q7Z604|Q86SM3|Q8NH39	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L375	ENST00000395116.1	37	c.1125	CCDS9738.1	14																																																																																			GPR135	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181619		0.672	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR135	HGNC	protein_coding	OTTHUMT00000276941.1	-	0	69	0	C	NM_022571		59930820	-1	tier1	-	no_errors	ENST00000395116	ensembl	human	known	74_37	silent	6.02	78	5	SNP	1.000	T	T	59930820	C	T	59930820	2	4	132	1	0	0	0	0	0	0	0	1	6670	813	29	3		3	GPR135	14	59930820	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	35050472	59930820	47418720	121	33853											
SIX4	51804	genome.wustl.edu	37	chr14	61180669	61180669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtggatgcaggccactcCccgagatgttttcagaagac	10	8	11	12	1	1	3	1	0	0	3	2	5	2	4	4	2	1	2	4	2	1	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr14:61180669C>A	ENST00000216513.4	-	3	1861	c.1802G>T	c.(1801-1803)gGg>gTg	p.G601V		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	601					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)		CAGGCCACTCCCCGAGATGTT	0.443																																																	0													69	67	68					14																	61180669		2203	4300	6503	SO:0001583	missense	0			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.1802G>T	14.37:g.61180669C>A	ENSP00000216513:p.Gly601Val		Q4QQH5|Q4V764	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G601V	ENST00000216513.4	37	c.1802	CCDS9749.2	14	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827713	0.50845	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.91577	-2.87;0.75	5.44	5.44	0.79542	.	0.487205	0.22022	N	0.065713	D	0.85305	0.5666	N	0.08118	0	0.80722	D	1	P	0.47106	0.89	P	0.48114	0.567	D	0.85229	0.1031	10	0.28530	T	0.3	.	17.4595	0.87616	0.0:1.0:0.0:0.0	.	601	Q9UIU6	SIX4_HUMAN	V	601;274	ENSP00000216513:G601V;ENSP00000451537:G274V	ENSP00000216513:G601V	G	-	2	0	SIX4	60250422	0.872000	0.30054	0.991000	0.47740	0.842000	0.47809	1.826000	0.39092	2.560000	0.86352	0.655000	0.94253	GGG	SIX4	-	NULL	ENSG00000100625		0.443	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	HGNC	protein_coding	OTTHUMT00000072397.2	-	0	44	0	C			61180669	-1	tier1	-	no_errors	ENST00000216513	ensembl	human	known	74_37	missense	36.21	37	21	SNP	0.336	A	A	61180669	C	A	61180669	3	1	132	1	0	0	0	0	1	0	0	0	14394	623	22	3	547	3	SIX4	14	61180669	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	1249849	61180669	46168871	122	33854											
ZFYVE26	23503	genome.wustl.edu	37	chr14	68236404	68236404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttagtggagcaggagctgCacactagccggccacagcgg	9	6	14	12	2	1	0	0	0	1	0	1	2	1	2	2	4	5	3	2	4	2	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr14:68236404C>T	ENST00000347230.4	-	29	5666	c.5528G>A	c.(5527-5529)tGc>tAc	p.C1843Y	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.C1843Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1843					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)		GCAGGAGCTGCACACTAGCCG	0.517																																																	0													89	79	83					14																	68236404		2203	4300	6503	SO:0001583	missense	0			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.5528G>A	14.37:g.68236404C>T	ENSP00000251119:p.Cys1843Tyr		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.C1843Y	ENST00000347230.4	37	c.5528	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907670	0.92107	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	D;D	0.93076	-3.16;-3.16	5.69	5.69	0.88448	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	0.85682	D	0.000000	D	0.98254	0.9422	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99198	1.0872	10	0.87932	D	0	-5.8668	19.801	0.96507	0.0:1.0:0.0:0.0	.	1843;1843	G3V2D8;Q68DK2	.;ZFY26_HUMAN	Y	1843;1822;1843	ENSP00000251119:C1843Y;ENSP00000450603:C1843Y	ENSP00000251119:C1843Y	C	-	2	0	ZFYVE26	67306157	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.685000	0.91497	0.555000	0.69702	TGC	ZFYVE26	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000072121		0.517	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	-	0	48	0	C	NM_015346		68236404	-1	tier1	-	no_errors	ENST00000347230	ensembl	human	known	74_37	missense	48.98	25	24	SNP	1.000	T	T	68236404	C	T	68236404	3	4	132	1	0	0	0	0	1	0	0	0	17716	710	25	3	2147	3	ZFYVE26	14	68236404	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	7055735	68236404	39113136	123	33855											
ENTPD5	957	genome.wustl.edu	37	chr14	74440671	74440671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggcactccggaaagtgtgCccatcagtccctgaaagaat	12	7	10	12	1	1	2	1	1	0	1	3	3	3	3	3	2	1	1	3	2	3	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr14:74440671C>T	ENST00000334696.6	-	12	1114	c.795G>A	c.(793-795)ggG>ggA	p.G265G	ENTPD5_ENST00000557325.1_Silent_p.G265G	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	265					'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)		GGAAAGTGTGCCCATCAGTCC	0.498																																																	0													98	85	90					14																	74440671		2203	4300	6503	SO:0001819	synonymous_variant	0			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.795G>A	14.37:g.74440671C>T			A1L4C5|Q96RX0	Silent	SNP	pfam_GDA1_CD39_NTPase	p.G265	ENST00000334696.6	37	c.795	CCDS9825.1	14																																																																																			ENTPD5	-	pfam_GDA1_CD39_NTPase	ENSG00000187097		0.498	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD5	HGNC	protein_coding	OTTHUMT00000412637.1		0	33	0	C	NM_001249		74440671	-1			no_errors	ENST00000334696	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.998	T	T	74440671	C	T	74440671	2	4	132	1	0	0	0	0	0	0	0	1	5158	726	26	3		3	ENTPD5	14	74440671	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	6204267	74440671	32908869	124	33856											
YLPM1	56252	genome.wustl.edu	37	chr14	75276398	75276398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtattaccacccccacctGttcactcttccattccccct	7	12	2	20	0	2	0	1	0	1	0	4	0	4	0	7	0	1	2	7	0	2	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr14:75276398G>A	ENST00000552421.1	+	6	2843	c.2719G>A	c.(2719-2721)Gtt>Att	p.V907I	YLPM1_ENST00000325680.7_Missense_Mutation_p.V1613I|YLPM1_ENST00000238571.3_Missense_Mutation_p.V1418I			P49750	YLPM1_HUMAN	YLP motif containing 1	1418	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)		ACCCCCACCTGTTCACTCTTC	0.498																																																	0													86	85	86					14																	75276398		1970	4159	6129	SO:0001583	missense	0			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.2719G>A	14.37:g.75276398G>A	ENSP00000447921:p.Val907Ile		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.V1613I	ENST00000552421.1	37	c.4837		14	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273137	0.23221	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.22	1.77	0.24775	.	0.676165	0.13260	N	0.401321	T	0.29684	0.0741	N	0.14661	0.345	0.33232	D	0.556073	B;B	0.24576	0.106;0.0	B;B	0.32289	0.143;0.002	T	0.37619	-0.9698	9	0.18276	T	0.48	-1.2348	8.9099	0.35546	0.306:0.0:0.694:0.0	.	1418;1613	P49750-3;P49750-4	.;.	I	907;1613;1418;1326;22	.	ENSP00000238571:V1418I	V	+	1	0	YLPM1	74346151	0.132000	0.22450	1.000000	0.80357	0.998000	0.95712	0.006000	0.13152	0.519000	0.28406	0.591000	0.81541	GTT	YLPM1	-	NULL	ENSG00000119596		0.498	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1		0	43	0	G	NM_019589		75276398	1			no_errors	ENST00000325680	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.997	A	A	75276398	G	A	75276398	3	1	132	1	0	0	0	0	1	0	0	0	17535	1377	48	3	4863	3	YLPM1	14	75276398	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	835727	75276398	32073142	125	33857											
SPATA7	55812	genome.wustl.edu	37	chr14	88859798	88859798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtcaagaatcacatGgctgttcactataataaaat	15	11	7	8	0	3	1	3	0	0	1	3	1	3	1	0	2	1	3	0	2	6	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr14:88859798G>A	ENST00000393545.4	+	3	445	c.156G>A	c.(154-156)atG>atA	p.M52I	SPATA7_ENST00000554102.1_3'UTR|SPATA7_ENST00000356583.5_Intron|SPATA7_ENST00000045347.7_Missense_Mutation_p.M52I|SPATA7_ENST00000556553.1_Intron	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	52					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AGAATCACATGGCTGTTCACT	0.333																																																	0													30	28	29					14																	88859798		2203	4299	6502	SO:0001583	missense	0			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.156G>A	14.37:g.88859798G>A	ENSP00000377176:p.Met52Ile		Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	NULL	p.M52I	ENST00000393545.4	37	c.156	CCDS9883.1	14	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398848	0.83120	.	.	ENSG00000042317	ENST00000393545;ENST00000045347	T;T	0.25414	1.8;1.8	5.63	5.63	0.86233	.	0.053662	0.64402	D	0.000003	T	0.52597	0.1744	M	0.73598	2.24	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	T	0.52298	-0.8594	10	0.66056	D	0.02	-19.4443	16.967	0.86288	0.0:0.0:1.0:0.0	.	52	Q9P0W8	SPAT7_HUMAN	I	52	ENSP00000377176:M52I;ENSP00000045347:M52I	ENSP00000045347:M52I	M	+	3	0	SPATA7	87929551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.150000	0.58098	2.814000	0.96858	0.591000	0.81541	ATG	SPATA7	-	NULL	ENSG00000042317		0.333	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA7	HGNC	protein_coding	OTTHUMT00000410172.1	-	0	58	0	G			88859798	1	tier1	-	no_errors	ENST00000393545	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	A	A	88859798	G	A	88859798	3	1	132	1	0	0	0	0	1	0	0	0	15061	1348	47	3	166	3	SPATA7	14	88859798	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	13583400	88859798	18489742	126	33858											
C14orf102	55051	genome.wustl.edu	37	chr14	90778760	90778760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctatatcccctcggtagaGagacttgtactcccagttcg	8	12	9	12	2	0	2	0	0	0	2	4	3	2	2	3	1	2	4	3	1	4	6			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr14:90778760G>T	ENST00000354366.3	-	4	767	c.535C>A	c.(535-537)Ctc>Atc	p.L179I	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	179																	CCTCGGTAGAGAGACTTGTAC	0.478																																																	0													132	112	119					14																	90778760		2203	4300	6503	SO:0001583	missense	0			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.535C>A	14.37:g.90778760G>T	ENSP00000346335:p.Leu179Ile		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.L179I	ENST00000354366.3	37	c.535	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567993	0.86439	.	.	ENSG00000119720	ENST00000354366	T	0.31247	1.5	5.35	5.35	0.76521	.	0.068330	0.64402	D	0.000010	T	0.53965	0.1829	M	0.77103	2.36	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.51818	-0.8657	10	0.38643	T	0.18	-13.6814	14.6376	0.68702	0.072:0.0:0.928:0.0	.	179	Q9H7Z3	CN102_HUMAN	I	179	ENSP00000346335:L179I	ENSP00000346335:L179I	L	-	1	0	C14orf102	89848513	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.636000	0.67848	2.657000	0.90304	0.549000	0.68633	CTC	NRDE2	-	NULL	ENSG00000119720		0.478	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1		0	36	0	G	NM_017970		90778760	-1			no_errors	ENST00000354366	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	90778760	G	T	90778760	3	4	132	1	0	0	0	0	1	0	0	0	1740	942	33	3	3003	3	C14orf102	14	90778760	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	1918962	90778760	16570780	127	33859											
TECPR2	9895	genome.wustl.edu	37	chr14	102963419	102963419	+	Missense_Mutation	SNP	A	A	G	1	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	cgtgcggaccgggatcaccgAggagatgcctgtggggaccg	7	5	18	11	5	1	1	1	0	0	1	1	6	1	4	4	5	2	0	4	5	0	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr14:102963419A>G	ENST00000359520.7	+	18	4119	c.3893A>G	c.(3892-3894)gAg>gGg	p.E1298G		NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1298					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						GGGATCACCGAGGAGATGCCT	0.672																																																	0													92	79	83					14																	102963419		2203	4300	6503	SO:0001583	missense	0			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.3893A>G	14.37:g.102963419A>G	ENSP00000352510:p.Glu1298Gly		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.E1298G	ENST00000359520.7	37	c.3893	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	A	29.0	4.965514	0.92855	.	.	ENSG00000196663	ENST00000359520	T	0.15952	2.38	5.71	5.71	0.89125	.	0.052728	0.85682	D	0.000000	T	0.35624	0.0938	L	0.51422	1.61	0.80722	D	1	P;D	0.67145	0.892;0.996	P;D	0.68765	0.575;0.96	T	0.04191	-1.0970	10	0.62326	D	0.03	.	14.8057	0.69952	1.0:0.0:0.0:0.0	.	481;1298	B4DSD3;O15040	.;TCPR2_HUMAN	G	1298	ENSP00000352510:E1298G	ENSP00000352510:E1298G	E	+	2	0	TECPR2	102033172	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.656000	0.91102	2.180000	0.69256	0.379000	0.24179	GAG	TECPR2	-	pfam_Beta-propeller_rpt_TECPR	ENSG00000196663		0.672	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	-	0	80	0	A	NM_014844		102963419	1	tier1	-	no_errors	ENST00000359520	ensembl	human	known	74_37	missense	47.87	49	45	SNP	1.000	G	G	102963419	A	G	102963419	3	3	132	1	0	0	0	0	1	0	0	0	15791	304	11	4	3974	4	TECPR2	14	102963419	Missense_Mutation	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	12184659	102963419	4386121	128	33860											
INO80	54617	genome.wustl.edu	37	chr15	41362726	41362726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccaaggcccatttcatcaGcaagaatgccattaataccc	14	9	5	13	0	2	1	2	0	0	1	2	1	2	1	4	1	4	1	4	1	6	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr15:41362726G>A	ENST00000361937.3	-	13	2049	c.1625C>T	c.(1624-1626)gCt>gTt	p.A542V	INO80_ENST00000401393.3_Missense_Mutation_p.A542V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	542	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						CATTTCATCAGCAAGAATGCC	0.413																																																	0													142	120	128					15																	41362726		2203	4300	6503	SO:0001583	missense	0			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.1625C>T	15.37:g.41362726G>A	ENSP00000355205:p.Ala542Val		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A542V	ENST00000361937.3	37	c.1625	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.389204	0.95988	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.95518	-3.73;-3.73	5.32	5.32	0.75619	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98751	0.9580	H	0.97829	4.085	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.99402	1.0928	10	0.87932	D	0	.	19.1997	0.93707	0.0:0.0:1.0:0.0	.	542	Q9ULG1	INO80_HUMAN	V	542	ENSP00000355205:A542V;ENSP00000384686:A542V	ENSP00000355205:A542V	A	-	2	0	INO80	39150018	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.636000	0.98440	2.753000	0.94483	0.655000	0.94253	GCT	INO80	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000128908		0.413	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	-	0	64	0	G	NM_017553		41362726	-1	tier1	-	no_errors	ENST00000361937	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	A	A	41362726	G	A	41362726	3	1	132	1	0	0	0	0	1	0	0	0	7773	971	34	3	3141	3	INO80	15	41362726	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09		41362726	61168666	129	33861											
SPG11	80208	genome.wustl.edu	37	chr15	44881455	44881455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaggattgtcttaccatcaGagaagagatgctctctttca	12	13	8	8	0	4	2	2	0	2	2	5	5	4	3	1	1	2	1	1	1	3	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr15:44881455G>C	ENST00000261866.7	-	28	4917	c.4901C>G	c.(4900-4902)tCt>tGt	p.S1634C	SPG11_ENST00000535302.2_Missense_Mutation_p.S1634C|SPG11_ENST00000427534.2_Missense_Mutation_p.S1634C|SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000558319.1_Missense_Mutation_p.S1634C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1634					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)		CTTACCATCAGAGAAGAGATG	0.378																																																	0													70	68	69					15																	44881455		2198	4298	6496	SO:0001583	missense	0				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.4901C>G	15.37:g.44881455G>C	ENSP00000261866:p.Ser1634Cys		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.S1634C	ENST00000261866.7	37	c.4901	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910610	0.52439	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.79033	-1.23;-0.98;-0.97	5.53	2.56	0.30785	.	0.709345	0.13510	N	0.382588	T	0.81950	0.4931	M	0.62723	1.935	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.60682	0.878;0.846;0.878	T	0.76852	-0.2806	10	0.52906	T	0.07	.	6.8017	0.23754	0.1515:0.2748:0.5737:0.0	.	1634;1634;1634	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	C	1634	ENSP00000261866:S1634C;ENSP00000445278:S1634C;ENSP00000396110:S1634C	ENSP00000261866:S1634C	S	-	2	0	SPG11	42668747	0.981000	0.34729	0.993000	0.49108	0.969000	0.65631	1.790000	0.38734	0.258000	0.21686	0.655000	0.94253	TCT	SPG11	-	NULL	ENSG00000104133		0.378	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	-	0	36	0	G			44881455	-1	tier1	-	no_errors	ENST00000261866	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.996	C	C	44881455	G	C	44881455	3	2	132	1	0	0	0	0	1	0	0	0	15088	942	33	5	2482	5	SPG11	15	44881455	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	3518729	44881455	57649937	130	33862											
GNB5	10681	genome.wustl.edu	37	chr15	52425597	52425597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacactgttgatgtcagattCatgtgtttcaaaggcctgca	10	13	10	8	0	3	2	3	1	0	1	3	3	3	2	1	1	1	3	1	1	1	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr15:52425597C>T	ENST00000261837.7	-	9	906	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Missense_Mutation_p.E239K|GNB5_ENST00000396335.4_Missense_Mutation_p.E169K	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	281					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)		ATGTCAGATTCATGTGTTTCA	0.517																																																	0													154	116	129					15																	52425597		2195	4293	6488	SO:0001583	missense	0			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.841G>A	15.37:g.52425597C>T	ENSP00000261837:p.Glu281Lys		B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.E281K	ENST00000261837.7	37	c.841	CCDS10149.1	15	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419306	0.83559	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.62364	0.03	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.106561	0.64402	D	0.000007	T	0.51143	0.1657	N	0.16478	0.41	0.80722	D	1	B;B	0.27625	0.183;0.002	B;B	0.25614	0.062;0.005	T	0.50980	-0.8763	10	0.66056	D	0.02	-31.9117	20.0139	0.97470	0.0:1.0:0.0:0.0	.	281;169	O14775;O14775-3	GBB5_HUMAN;.	K	281;239;79;169	ENSP00000261837:E281K	ENSP00000261837:E281K	E	-	1	0	GNB5	50212889	1.000000	0.71417	0.694000	0.30210	0.987000	0.75469	7.291000	0.78721	2.724000	0.93272	0.563000	0.77884	GAA	GNB5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000069966		0.517	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNB5	HGNC	protein_coding	OTTHUMT00000254842.1	-	0	59	0	C			52425597	-1	tier1	-	no_errors	ENST00000261837	ensembl	human	known	74_37	missense	50.85	29	30	SNP	1.000	T	T	52425597	C	T	52425597	3	4	132	1	0	0	0	0	1	0	0	0	6547	835	29	3	366	3	GNB5	15	52425597	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	7544142	52425597	50105795	131	33863											
RFX7	64864	genome.wustl.edu	37	chr15	56386365	56386365	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcacattagatcgtgggatAttagatactggatagagggt	12	12	13	4	1	1	3	1	0	0	3	2	5	1	5	0	3	1	0	0	3	5	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr15:56386365A>G	ENST00000559447.2	-	9	3541	c.3270T>C	c.(3268-3270)aaT>aaC	p.N1090N	RFX7_ENST00000422057.1_Silent_p.N1090N|RFX7_ENST00000423270.1_Silent_p.N1187N|RFX7_ENST00000317318.6_Silent_p.N1187N			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1090					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						ATCGTGGGATATTAGATACTG	0.473																																																	0													108	110	109					15																	56386365		1970	4157	6127	SO:0001819	synonymous_variant	0					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.3270T>C	15.37:g.56386365A>G			Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	pfam_DNA-bd_RFX	p.N1187	ENST00000559447.2	37	c.3561		15																																																																																			RFX7	-	NULL	ENSG00000181827		0.473	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	-	0	22	0	A	NM_022841		56386365	-1	tier1	-	no_errors	ENST00000423270	ensembl	human	known	74_37	silent	60.00	12	18	SNP	1.000	G	G	56386365	A	G	56386365	2	3	132	1	0	0	0	0	0	0	0	1	13313	446	16	4		4	RFX7	15	56386365	Silent	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	3960768	56386365	46145027	132	33864											
RNF111	54778	genome.wustl.edu	37	chr15	59373162	59373162	+	Missense_Mutation	SNP	A	A	G	1	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	tttgacaaggccacttcatcAtcaagcttctgcctgcccgc	8	11	7	15	1	4	1	3	1	1	0	4	1	4	1	3	1	3	1	3	1	2	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr15:59373162A>G	ENST00000557998.1	+	8	2263	c.1976A>G	c.(1975-1977)cAt>cGt	p.H659R	RNF111_ENST00000561186.1_Missense_Mutation_p.H659R|RNF111_ENST00000348370.4_Missense_Mutation_p.H659R|RNF111_ENST00000559209.1_Missense_Mutation_p.H659R|RNF111_ENST00000434298.1_Missense_Mutation_p.H659R	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	659	Pro-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)		CCACTTCATCATCAAGCTTCT	0.438																																					NSCLC(72;983 1365 10746 34387 47081)												0													150	139	142					15																	59373162		2192	4291	6483	SO:0001583	missense	0			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.1976A>G	15.37:g.59373162A>G	ENSP00000452732:p.His659Arg		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H659R	ENST00000557998.1	37	c.1976	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263678	0.59431	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17528	2.27;2.28	5.74	4.6	0.57074	.	0.052325	0.64402	D	0.000001	T	0.32763	0.0840	L	0.44542	1.39	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.991;0.996	T	0.02326	-1.1176	10	0.62326	D	0.03	-12.7287	12.1443	0.54014	0.8715:0.0:0.0:0.1285	.	659;659;659	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	R	659	ENSP00000288199:H659R;ENSP00000393641:H659R	ENSP00000288199:H659R	H	+	2	0	RNF111	57160454	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	8.730000	0.91510	0.988000	0.38734	-0.468000	0.05107	CAT	RNF111	-	NULL	ENSG00000157450		0.438	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	0	45	0	A	NM_017610		59373162	1	tier1	-	no_errors	ENST00000434298	ensembl	human	known	74_37	missense	38.00	30	19	SNP	1.000	G	G	59373162	A	G	59373162	3	3	132	1	0	0	0	0	1	0	0	0	13470	217	8	4	2002	4	RNF111	15	59373162	Missense_Mutation	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	2986797	59373162	43158230	133	33865											
ISLR	3671	genome.wustl.edu	37	chr15	74467244	74467244	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgcttctcctgggcctGgctcaggcctgccctgagcc	2	9	14	16	1	2	1	1	1	1	0	3	1	2	1	5	4	2	2	5	4	0	1	rs137923011	byFrequency	TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr15:74467244G>T	ENST00000249842.3	+	2	402	c.45G>T	c.(43-45)ctG>ctT	p.L15L	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.L15L	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	15					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						TCCTGGGCCTGGCTCAGGCCT	0.632																																																	0													41	38	39					15																	74467244		2198	4297	6495	SO:0001819	synonymous_variant	0			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.45G>T	15.37:g.74467244G>T				Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom	p.L15	ENST00000249842.3	37	c.45	CCDS10260.1	15																																																																																			ISLR	-	NULL	ENSG00000129009		0.632	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR	HGNC	protein_coding	OTTHUMT00000269044.1		0	34	0	G	NM_005545		74467244	1			no_errors	ENST00000249842	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.000	T	T	74467244	G	T	74467244	2	4	132	1	0	0	0	0	0	0	0	1	7885	1335	47	3		3	ISLR	15	74467244	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	15094082	74467244	28064148	134	33866											
PTPN9	5780	genome.wustl.edu	37	chr15	75809693	75809693	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaacaccagtccattcctCtgagtttcaaagctgtaaat	14	12	5	10	0	2	1	1	1	1	0	4	1	4	1	3	0	2	3	3	0	5	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr15:75809693C>T	ENST00000306726.2	-	5	947	c.435G>A	c.(433-435)caG>caA	p.Q145Q		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	145	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCCATTCCTCTGAGTTTCAA	0.403																																																	0													109	88	95					15																	75809693		2197	4294	6491	SO:0001819	synonymous_variant	0				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.435G>A	15.37:g.75809693C>T			Q53XR9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran	p.Q145	ENST00000306726.2	37	c.435	CCDS10280.1	15																																																																																			PTPN9	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000169410		0.403	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN9	HGNC	protein_coding	OTTHUMT00000286474.1	-	0	42	0	C			75809693	-1	tier1	-	no_errors	ENST00000306726	ensembl	human	known	74_37	silent	46.88	34	30	SNP	1.000	T	T	75809693	C	T	75809693	2	4	132	1	0	0	0	0	0	0	0	1	12839	912	32	3		3	PTPN9	15	75809693	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	1342449	75809693	26721699	135	33867											
IGF1R	3480	genome.wustl.edu	37	chr15	99250893	99250893	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacatcctgctcatctccaAggccgaggactaccgcagct	9	7	8	17	2	2	0	1	0	1	0	4	2	3	1	5	2	3	3	5	2	2	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr15:99250893A>G	ENST00000268035.6	+	2	808	c.197A>G	c.(196-198)aAg>aGg	p.K66R	IGF1R_ENST00000558762.1_Missense_Mutation_p.K66R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	66					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)"	CTCATCTCCAAGGCCGAGGAC	0.612																																																	0													105	74	85					15																	99250893		2197	4297	6494	SO:0001583	missense	0			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.197A>G	15.37:g.99250893A>G	ENSP00000268035:p.Lys66Arg		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.K66R	ENST00000268035.6	37	c.197	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	A	13.88	2.368633	0.42003	.	.	ENSG00000140443	ENST00000268035	T	0.80033	-1.33	5.36	5.36	0.76844	EGF receptor, L domain (1);	0.101685	0.40728	N	0.001021	T	0.70351	0.3214	L	0.41236	1.265	0.47698	D	0.999499	B;B	0.32526	0.374;0.005	B;B	0.23852	0.049;0.012	T	0.67837	-0.5567	10	0.17369	T	0.5	.	14.824	0.70097	1.0:0.0:0.0:0.0	.	66;66	C9J5X1;P08069	.;IGF1R_HUMAN	R	66	ENSP00000268035:K66R	ENSP00000268035:K66R	K	+	2	0	IGF1R	97068416	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.150000	0.94667	2.148000	0.66965	0.460000	0.39030	AAG	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L	ENSG00000140443		0.612	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	-	0	53	0	A	NM_000875		99250893	1	tier1	-	no_errors	ENST00000268035	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	G	G	99250893	A	G	99250893	3	3	132	1	0	0	0	0	1	0	0	0	7598	72	3	4	203	4	IGF1R	15	99250893	Missense_Mutation	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	23441200	99250893	3280499	136	33868											
MEF2A	4205	genome.wustl.edu	37	chr15	100252738	100252739	+	Frame_Shift_Del	DEL	AG	AG	-																															gcagcagcagcagcagcagcAgcagccgccgccaccaccgc																								rs560400205|rs201861701	byFrequency	TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr15:100252738_100252739delAG	ENST00000557785.1	+	11	1605_1606	c.1256_1257delAG	c.(1255-1257)cagfs	p.Q420fs	MEF2A_ENST00000558812.1_Frame_Shift_Del_p.Q360fs|MEF2A_ENST00000453228.2_Frame_Shift_Del_p.Q420fs|MEF2A_ENST00000449277.2_Frame_Shift_Del_p.Q352fs|MEF2A_ENST00000338042.6_Frame_Shift_Del_p.Q429fs|MEF2A_ENST00000354410.5_Frame_Shift_Del_p.Q422fs|MEF2A_ENST00000557942.1_Frame_Shift_Del_p.Q428fs	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)			cagcagcagcagcagcCGCCGC	0.634																																																	0									,,,,	151,2619		26,99,1260					,,,,		0		dbSNP_129	7	953,4759		140,673,2043	no	frameshift,frameshift,frameshift,frameshift,frameshift	MEF2A	NM_005587.2,NM_001171894.1,NM_001130928.1,NM_001130927.1,NM_001130926.1	,,,,	166,772,3303	A1A1,A1R,RR		16.6842,5.4513,13.0158	,,,,	,,,,		1104,7378				SO:0001589	frameshift_variant	0				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.1256_1257delAG	15.37:g.100252738_100252739delAG	ENSP00000453441:p.Gln420fs		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Frame_Shift_Del	DEL	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.Q428fs	ENST00000557785.1	37	c.1283_1284	CCDS53978.1	15																																																																																			MEF2A	-	NULL	ENSG00000068305		0.634	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MEF2A	HGNC	protein_coding	OTTHUMT00000415985.1		0	51	0	AG			100252739	1	tier1		no_errors	ENST00000338042	ensembl	human	known	74_37	frame_shift_del	9.26	49	5	DEL	0.928:0.862	-	-	100252739	AG	-	100252738	7	5	132	1	0	1	0	1	0	0	0	0	9493	188	7	0	1460	0	MEF2A	15	100252738	Frame_Shift_Del	DEL	AG	TCGA-LN-A9FO-01A-11D-A387-09	1001845	100252738	2278654	137	33869											
CREBBP	1387	genome.wustl.edu	37	chr16	3820668	3820668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactggggtttgaggctgcGgggtcacctgggcctgggct	4	9	19	9	1	1	1	1	1	0	0	1	2	1	1	2	7	2	3	2	7	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr16:3820668G>T	ENST00000262367.5	-	14	3592	c.2783C>A	c.(2782-2784)cCg>cAg	p.P928Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.P890Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	928					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)		TTGAGGCTGCGGGGTCACCTG	0.672			"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													71	84	79					16																	3820668		2197	4300	6497	SO:0001583	missense	0			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.2783C>A	16.37:g.3820668G>T	ENSP00000262367:p.Pro928Gln		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P928Q	ENST00000262367.5	37	c.2783	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317456	0.40996	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84589	-1.87;-1.77	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	N	0.04090	-0.28	0.80722	D	1	D;D	0.55385	0.971;0.971	P;P	0.46320	0.512;0.512	T	0.76105	-0.3081	10	0.23302	T	0.38	-6.4181	20.181	0.98201	0.0:0.0:1.0:0.0	.	958;928	Q4LE28;Q92793	.;CBP_HUMAN	Q	928;958;890	ENSP00000262367:P928Q;ENSP00000371502:P890Q	ENSP00000262367:P928Q	P	-	2	0	CREBBP	3760669	1.000000	0.71417	0.999000	0.59377	0.450000	0.32258	8.841000	0.92131	2.840000	0.97914	0.655000	0.94253	CCG	CREBBP	-	NULL	ENSG00000005339		0.672	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	-	0	35	0	G	NM_004380		3820668	-1	tier1	-	no_errors	ENST00000262367	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	3820668	G	T	3820668	3	4	132	1	0	0	0	0	1	0	0	0	3868	1116	39	2	4617	2	CREBBP	16	3820668	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09		3820668	86534085	138	33870											
ALG1	56052	genome.wustl.edu	37	chr16	5125388	5125388	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagtctctatctttcctaGaaccccccaggtctgcctag	8	12	6	15	0	4	1	1	0	3	1	6	1	5	1	5	1	2	0	5	1	5	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr16:5125388G>A	ENST00000262374.5	+	4	421		c.e4-1		ALG1_ENST00000544428.1_Splice_Site|ALG1_ENST00000588623.1_Splice_Site	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase						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)				ATCTTTCCTAGAACCCCCCAG	0.488																																																	0													165	147	153					16																	5125388		2197	4300	6497	SO:0001630	splice_region_variant	0			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.391-1G>A	16.37:g.5125388G>A			B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Splice_Site	SNP	-	e4-1	ENST00000262374.5	37	c.391-1	CCDS10528.1	16	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702541	0.68501	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	.	.	.	5.74	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7815	0.52018	0.0842:0.0:0.9158:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALG1	5065389	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	8.764000	0.91719	2.716000	0.92895	0.650000	0.86243	.	ALG1	-	-	ENSG00000033011		0.488	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251716.2	-	0	34	0	G	NM_019109	Intron	5125388	1	tier1	-	no_errors	ENST00000262374	ensembl	human	known	74_37	splice_site	41.07	33	23	SNP	1.000	A	A	5125388	G	A	5125388	5	1	132	1	0	0	0	0	0	0	1	0	510	956	33	3	404	3	ALG1	16	5125388	Splice_Site	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	1304720	5125388	85229365	139	33871											
USP7	7874	genome.wustl.edu	37	chr16	8997253	8997253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacaaaactggtcctctgCgactatctgaaaatatgtat	13	11	7	10	1	2	1	0	1	2	0	3	2	3	1	2	1	2	1	2	1	7	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr16:8997253C>T	ENST00000344836.4	-	16	1909	c.1711G>A	c.(1711-1713)Gca>Aca	p.A571T	USP7_ENST00000535863.1_Missense_Mutation_p.A472T|USP7_ENST00000381886.4_Missense_Mutation_p.A555T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	571					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGGTCCTCTGCGACTATCTGA	0.388																																																	0													95	85	89					16																	8997253		2197	4300	6497	SO:0001583	missense	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1711G>A	16.37:g.8997253C>T	ENSP00000343535:p.Ala571Thr		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.A571T	ENST00000344836.4	37	c.1711	CCDS32385.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.58|12.58	1.980423|1.980423	0.34942|0.34942	.|.	.|.	ENSG00000187555|ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549|ENST00000542333	T;T|T	0.04862|0.07908	3.57;3.54|3.15	5.05|5.05	3.85|3.85	0.44370|0.44370	.|.	0.203480|.	0.50627|.	D|.	0.000101|.	T|T	0.02012|0.02012	0.0063|0.0063	N|N	0.00128|0.00128	-2.045|-2.045	0.42336|0.42336	D|D	0.992316|0.992316	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.46428|0.46428	-0.9192|-0.9192	10|7	0.02654|0.87932	T|D	1|0	.|.	8.2562|8.2562	0.31758|0.31758	0.0:0.8068:0.0:0.1932|0.0:0.8068:0.0:0.1932	.|.	571;555|.	Q93009;B7Z815|.	UBP7_HUMAN;.|.	T|H	571;579;472;472|499	ENSP00000343535:A571T;ENSP00000443646:A472T|ENSP00000439272:R499H	ENSP00000343535:A571T|ENSP00000439272:R499H	A|R	-|-	1|2	0|0	USP7|USP7	8904754|8904754	0.998000|0.998000	0.40836|0.40836	0.960000|0.960000	0.40013|0.40013	0.627000|0.627000	0.37826|0.37826	3.332000|3.332000	0.52083|0.52083	2.500000|2.500000	0.84329|0.84329	0.455000|0.455000	0.32223|0.32223	GCA|CGC	USP7	-	NULL	ENSG00000187555		0.388	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2		0	26	0	C			8997253	-1			no_errors	ENST00000344836	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.981	T	T	8997253	C	T	8997253	3	4	132	1	0	0	0	0	1	0	0	0	17137	768	27	1	1661	1	USP7	16	8997253	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	3871865	8997253	81357500	140	33872											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77353798	77353798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcgcgtacagacgttccgggCggttgaaagagcgctggtat	8	8	16	9	6	0	3	0	1	0	2	1	3	1	3	1	3	2	5	1	3	3	4	rs149031657	byFrequency	TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr16:77353798C>T	ENST00000282849.5	-	16	2898	c.2480G>A	c.(2479-2481)cGc>cAc	p.R827H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	827	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R827H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACGTTCCGGGCGGTTGAAAGA	0.542																																																	1	Substitution - Missense(1)	kidney(1)											58	58	58					16																	77353798		2198	4300	6498	SO:0001583	missense	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2480G>A	16.37:g.77353798C>T	ENSP00000282849:p.Arg827His		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R827H	ENST00000282849.5	37	c.2480	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058475	0.36277	.	.	ENSG00000140873	ENST00000282849	T	0.52057	0.68	5.54	-7.54	0.01332	ADAM-TS Spacer 1 (1);	0.503008	0.22144	N	0.064016	T	0.20333	0.0489	N	0.11313	0.125	0.25930	N	0.983009	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.05084	-1.0907	10	0.40728	T	0.16	.	9.665	0.39979	0.1016:0.2297:0.0:0.6687	.	827;827	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	H	827	ENSP00000282849:R827H	ENSP00000282849:R827H	R	-	2	0	ADAMTS18	75911299	0.001000	0.12720	0.137000	0.22149	0.730000	0.41778	-0.759000	0.04761	-1.307000	0.02321	-1.603000	0.00810	CGC	ADAMTS18	-	pfam_ADAM_spacer1	ENSG00000140873		0.542	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	-	0	55	0	C			77353798	-1	tier1	rs149031657	no_errors	ENST00000282849	ensembl	human	known	74_37	missense	25.58	32	11	SNP	0.786	T	T	77353798	C	T	77353798	3	4	132	1	0	0	0	0	1	0	0	0	263	768	27	1	1217	1	ADAMTS18	16	77353798	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	68356545	77353798	13000955	141	33873											
CHMP1A	5119	genome.wustl.edu	37	chr16	89720321	89720321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcggtacataccttcaactgGaacagggtatctgcaaagaa	14	9	9	9	1	2	1	1	0	1	1	3	2	2	2	1	3	5	3	1	3	7	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr16:89720321G>T	ENST00000397901.3	-	2	274	c.18C>A	c.(16-18)ttC>ttA	p.F6L	CHMP1A_ENST00000253475.5_Intron|CHMP1A_ENST00000535997.2_Intron|CHMP1A_ENST00000547614.1_Intron|CHMP1A_ENST00000550102.1_Missense_Mutation_p.F6L	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	6					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)		CCTTCAACTGGAACAGGGTAT	0.502																																																	0													149	147	148					16																	89720321		1991	4160	6151	SO:0001583	missense	0			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.18C>A	16.37:g.89720321G>T	ENSP00000380998:p.Phe6Leu		A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	pfam_Snf7	p.F6L	ENST00000397901.3	37	c.18	CCDS45552.1	16	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236828	0.58886	.	.	ENSG00000131165	ENST00000397901;ENST00000550102	T;T	0.70164	-0.46;-0.46	5.47	5.47	0.80525	.	.	.	.	.	T	0.68577	0.3016	M	0.82433	2.59	0.80722	D	1	B	0.15719	0.014	B	0.17722	0.019	T	0.66172	-0.5990	9	0.39692	T	0.17	.	12.3155	0.54953	0.078:0.0:0.922:0.0	.	6	Q9HD42	CHM1A_HUMAN	L	6	ENSP00000380998:F6L;ENSP00000449243:F6L	ENSP00000380998:F6L	F	-	3	2	CHMP1A	88247822	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.504000	0.53347	2.562000	0.86427	0.561000	0.74099	TTC	CHMP1A	-	pfam_Snf7	ENSG00000131165		0.502	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP1A	HGNC	protein_coding	OTTHUMT00000404581.1	-	0	51	0	G	NM_002768		89720321	-1	tier1	-	no_errors	ENST00000397901	ensembl	human	known	74_37	missense	9.52	57	6	SNP	1.000	T	T	89720321	G	T	89720321	3	4	132	1	0	0	0	0	1	0	0	0	3359	1165	41	3	748	3	CHMP1A	16	89720321	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	12366523	89720321	634432	142	33874											
OVCA2	124641	genome.wustl.edu	37	chr17	1945944	1945944	+	Missense_Mutation	SNP	A	A	T	1	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	tcgaggctggtggttttcagAgcaggaggccgacgttttct	6	12	15	8	3	2	1	1	0	1	1	3	4	2	2	1	5	1	4	1	5	0	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:1945944A>T	ENST00000572195.1	+	2	245	c.230A>T	c.(229-231)gAg>gTg	p.E77V	DPH1_ENST00000570477.1_3'UTR|DPH1_ENST00000263083.6_3'UTR|RP11-667K14.3_ENST00000572790.1_lincRNA|RP11-667K14.4_ENST00000572404.1_RNA	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	77					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										TGGTTTTCAGAGCAGGAGGCC	0.617											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													47	50	49					17																	1945944		2202	4300	6502	SO:0001583	missense	0			AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664			24203	protein-coding gene	gene with protein product	"candidate tumor suppressor in ovarian cancer 2"	607896				11979432, 8616839, 16368187	Standard	NM_080822		Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.230A>T	17.37:g.1945944A>T	ENSP00000461388:p.Glu77Val	599	Q86XN3|Q8IW87|Q9UCX9	Missense_Mutation	SNP	pfam_Serine_hydrolase_FSH,pfam_PLipase/COase/thioEstase	p.E77V	ENST00000572195.1	37	c.230	CCDS11015.1	17	.	.	.	.	.	.	.	.	.	.	A	20.6	4.009877	0.75046	.	.	ENSG00000214014	ENST00000263084	.	.	.	5.22	5.22	0.72569	.	0.143002	0.45126	U	0.000390	T	0.47173	0.1431	M	0.63843	1.955	0.18873	N	0.999985	B	0.27286	0.174	B	0.35931	0.214	T	0.41980	-0.9478	9	0.30854	T	0.27	.	9.321	0.37964	0.9144:0.0:0.0856:0.0	.	77	Q8WZ82	OVCA2_HUMAN	V	77	.	ENSP00000263084:E77V	E	+	2	0	OVCA2	1892694	0.349000	0.24870	0.008000	0.14137	0.916000	0.54674	2.756000	0.47549	1.983000	0.57843	0.482000	0.46254	GAG	OVCA2	-	pfam_Serine_hydrolase_FSH	ENSG00000262664		0.617	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVCA2	HGNC	protein_coding	OTTHUMT00000255636.5	-	0	28	0	A	NM_080822		1945944	1	tier1	-	no_errors	ENST00000572195	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.152	T	T	1945944	A	T	1945944	3	4	132	1	0	0	0	0	1	0	0	0	11361	304	11	5	236	5	OVCA2	17	1945944	Missense_Mutation	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09		1945944	79249266	143	33875											
HIC1	3090	genome.wustl.edu	37	chr17	1961209	1961209	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcacctggcctatggcGagcccgagagcttcggtgac	6	6	14	15	4	0	2	0	1	0	1	1	4	0	2	4	3	2	2	4	3	1	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:1961209G>T	ENST00000322941.3	+	2	1282	c.1282G>T	c.(1282-1284)Gag>Tag	p.E428*	HIC1_ENST00000399849.3_Nonsense_Mutation_p.E409*|SMG6_ENST00000573166.1_5'Flank	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	428					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GGCCTATGGCGAGCCCGAGAG	0.667																																																	0													13	16	15					17																	1961209		2185	4286	6471	SO:0001587	stop_gained	0				CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1282G>T	17.37:g.1961209G>T	ENSP00000314080:p.Glu428*		D3DTI4	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E428*	ENST00000322941.3	37	c.1282	CCDS42229.1	17	.	.	.	.	.	.	.	.	.	.	g	37	6.060163	0.97246	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	.	.	.	3.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	15.2633	0.73640	0.0:0.0:1.0:0.0	.	.	.	.	X	409;428	.	ENSP00000314080:E428X	E	+	1	0	HIC1	1907959	0.982000	0.34865	0.895000	0.35142	0.921000	0.55340	3.010000	0.49559	1.917000	0.55516	0.401000	0.26515	GAG	HIC1	-	NULL	ENSG00000177374		0.667	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HIC1	HGNC	protein_coding	OTTHUMT00000438878.1		0	53	0	G	NM_006497		1961209	1			no_errors	ENST00000322941	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	0.994	T	T	1961209	G	T	1961209	4	4	132	1	0	0	0	0	0	1	0	0	7128	1059	37	2	1288	2	HIC1	17	1961209	Nonsense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	15265	1961209	79234001	144	33876											
NLRP1	22861	genome.wustl.edu	37	chr17	5418260	5418260	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagccagcaccctctcgtaCtgctcctggctcagcacctg	6	9	8	18	1	3	0	2	0	1	0	5	0	4	0	4	1	5	5	4	1	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:5418260C>G	ENST00000572272.1	-	17	4235	c.4236G>C	c.(4234-4236)caG>caC	p.Q1412H	NLRP1_ENST00000345221.3_Missense_Mutation_p.Q1368H|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000269280.4_Missense_Mutation_p.Q1368H|NLRP1_ENST00000577119.1_Missense_Mutation_p.Q1338H|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000354411.3_Missense_Mutation_p.Q1382H			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1412	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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)				CCCTCTCGTACTGCTCCTGGC	0.572																																																	0													75	79	78					17																	5418260		2140	4254	6394	SO:0001583	missense	0			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.4236G>C	17.37:g.5418260C>G	ENSP00000460475:p.Gln1412His		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.Q1412H	ENST00000572272.1	37	c.4236	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223957	0.39300	.	.	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	T;T	0.20881	2.04;2.04	5.07	0.6	0.17524	DEATH-like (2);Caspase Recruitment (2);	1.259230	0.05929	N	0.634760	T	0.43277	0.1240	M	0.78049	2.395	0.23221	N	0.998096	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72075	0.953;0.953;0.972;0.976	T	0.12604	-1.0541	10	0.56958	D	0.05	.	4.2737	0.10799	0.2806:0.5042:0.1361:0.0791	.	1338;1382;1412;1368	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2	.;.;NALP1_HUMAN;.	H	1412;1382;1368	ENSP00000346390:Q1382H;ENSP00000324366:Q1368H	ENSP00000269280:Q1412H	Q	-	3	2	NLRP1	5358984	1.000000	0.71417	0.024000	0.17045	0.254000	0.26022	0.702000	0.25631	-0.013000	0.14199	0.650000	0.86243	CAG	NLRP1	-	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	ENSG00000091592		0.572	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	-	0	38	0	C	NM_033004		5418260	-1	tier1	-	no_errors	ENST00000572272	ensembl	human	known	74_37	missense	35.71	27	15	SNP	0.951	G	G	5418260	C	G	5418260	3	3	132	1	0	0	0	0	1	0	0	0	10510	564	20	5	252	5	NLRP1	17	5418260	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	3457051	5418260	75776950	145	33877											
WSCD1	23302	genome.wustl.edu	37	chr17	5991412	5991412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcccactgccaggatgCgtgtgctgagcggtgagtgc	5	10	15	11	2	1	2	0	2	1	0	2	3	1	3	2	2	5	1	2	2	0	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:5991412C>T	ENST00000574946.1	+	3	920	c.530C>T	c.(529-531)gCg>gTg	p.A177V	WSCD1_ENST00000574232.1_Missense_Mutation_p.A177V|WSCD1_ENST00000539421.1_Missense_Mutation_p.A177V|WSCD1_ENST00000317744.5_Missense_Mutation_p.A177V|WSCD1_ENST00000573634.1_Missense_Mutation_p.A61V			Q658N2	WSCD1_HUMAN	WSC domain containing 1	177	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGCCAGGATGCGTGTGCTGAG	0.527																																																	0													131	110	117					17																	5991412		2203	4300	6503	SO:0001583	missense	0				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.530C>T	17.37:g.5991412C>T	ENSP00000460825:p.Ala177Val		A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.A177V	ENST00000574946.1	37	c.530	CCDS32538.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402169	0.83230	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.54675	0.56;0.56	5.83	5.83	0.93111	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.058194	0.64402	D	0.000002	T	0.63546	0.2520	M	0.72576	2.205	0.44337	D	0.997222	D	0.67145	0.996	P	0.53490	0.727	T	0.58261	-0.7667	10	0.16896	T	0.51	-24.9071	17.61	0.88050	0.0:1.0:0.0:0.0	.	177	Q658N2	WSCD1_HUMAN	V	177	ENSP00000323087:A177V;ENSP00000446032:A177V	ENSP00000323087:A177V	A	+	2	0	WSCD1	5932136	0.997000	0.39634	0.184000	0.23157	0.778000	0.44026	3.808000	0.55598	2.756000	0.94617	0.655000	0.94253	GCG	WSCD1	-	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	ENSG00000179314		0.527	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	HGNC	protein_coding	OTTHUMT00000438965.4	-	0	58	0	C	NM_015253		5991412	1	tier1	-	no_errors	ENST00000317744	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.832	T	T	5991412	C	T	5991412	3	4	132	1	0	0	0	0	1	0	0	0	17455	768	27	1	536	1	WSCD1	17	5991412	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	573152	5991412	75203798	146	33878											
TP53	7157	genome.wustl.edu	37	chr17	7578239	7578239	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttctgtcatccaaatactCcacacgcaaatttccttcca	11	13	3	14	1	2	0	1	0	1	0	6	0	6	0	4	0	1	2	4	0	3	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:7578239C>A	ENST00000269305.4	-	6	799	c.610G>T	c.(610-612)Gag>Tag	p.E204*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E204*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E204*|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	204	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (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.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(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)	TCCAAATACTCCACACGCAAA	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"	63	Substitution - Nonsense(39)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Substitution - Missense(3)|Complex - compound substitution(2)|Deletion - In frame(1)	lung(15)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|NS(5)|breast(4)|bone(4)|oesophagus(3)|ovary(3)|central_nervous_system(2)|stomach(1)|liver(1)|urinary_tract(1)|pancreas(1)											133	118	123					17																	7578239		2203	4300	6503	SO:0001587	stop_gained	0	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.610G>T	17.37:g.7578239C>A	ENSP00000269305:p.Glu204*		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E204*	ENST00000269305.4	37	c.610	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489037	0.44249	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	-0.604	0.11626	.	0.445020	0.26082	N	0.026458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-5.2849	1.4244	0.02320	0.133:0.2829:0.3261:0.258	.	.	.	.	X	204;204;204;204;204;204;193;111;72;111;72	.	ENSP00000269305:E204X	E	-	1	0	TP53	7518964	0.600000	0.26899	0.018000	0.16275	0.030000	0.12068	0.945000	0.29056	-0.004000	0.14419	0.655000	0.94253	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	65	0	C	NM_000546		7578239	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	67.21	20	41	SNP	0.045	A	A	7578239	C	A	7578239	4	1	132	1	0	0	0	0	0	1	0	0	16429	864	30	3	684	3	TP53	17	7578239	Nonsense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	1586827	7578239	73616971	147	33879											
KSR1	8844	genome.wustl.edu	37	chr17	25931751	25931751	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttggaagctcacgaagcGgaggtgagggtgacacacac	11	6	16	8	2	1	2	1	2	0	0	1	5	1	4	0	4	2	2	0	4	2	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:25931751G>T	ENST00000319524.6	+	14	1677	c.1677G>T	c.(1675-1677)gcG>gcT	p.A559A	KSR1_ENST00000268763.6_Silent_p.A422A|KSR1_ENST00000398988.3_Silent_p.A422A|KSR1_ENST00000509603.2_Silent_p.A537A|KSR1_ENST00000581975.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	559					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)		CTCACGAAGCGGAGGTGAGGG	0.557																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												0													103	114	110					17																	25931751		2005	4178	6183	SO:0001819	synonymous_variant	0			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.1677G>T	17.37:g.25931751G>T			F8WEA9|H7BYU0|Q13476	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A559	ENST00000319524.6	37	c.1677		17	.	.	.	.	.	.	.	.	.	.	G	8.992	0.977989	0.18812	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.52	-5.56	0.02529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6079	0.28113	0.6589:0.0:0.2124:0.1287	.	.	.	.	X	273	.	.	G	+	1	0	KSR1	22955878	0.021000	0.18746	0.007000	0.13788	0.261000	0.26267	-0.148000	0.10219	-0.727000	0.04888	-0.254000	0.11334	GGA	KSR1	-	NULL	ENSG00000141068		0.557	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		-	0	56	0	G	NM_014238		25931751	1	tier1	-	no_errors	ENST00000319524	ensembl	human	known	74_37	silent	6.33	74	5	SNP	0.005	T	T	25931751	G	T	25931751	2	4	132	1	0	0	0	0	0	0	0	1	8609	1103	39	2		2	KSR1	17	25931751	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	18353512	25931751	55263459	148	33880											
TMEM97	27346	genome.wustl.edu	37	chr17	26652649	26652649	+	Missense_Mutation	SNP	A	A	G	1	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	ttcagctgcctttctttcccAttgcaacgtatgccttcctc	5	16	5	15	1	2	0	1	0	1	0	5	0	4	0	4	0	5	3	4	0	2	6			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:26652649A>G	ENST00000226230.6	+	2	392	c.247A>G	c.(247-249)Att>Gtt	p.I83V	TMEM97_ENST00000582113.1_Missense_Mutation_p.I83V|TMEM97_ENST00000336687.6_5'UTR|TMEM97_ENST00000583381.1_5'UTR	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	83					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)		TTTCTTTCCCATTGCAACGTA	0.448																																																	0													137	130	133					17																	26652649		1922	4152	6074	SO:0001583	missense	0			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.247A>G	17.37:g.26652649A>G	ENSP00000226230:p.Ile83Val		B4DS02|Q07823	Missense_Mutation	SNP	pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97	p.I83V	ENST00000226230.6	37	c.247	CCDS11226.2	17	.	.	.	.	.	.	.	.	.	.	A	2.873	-0.233648	0.05983	.	.	ENSG00000109084	ENST00000226230	.	.	.	5.91	-11.8	0.00035	.	0.631167	0.17495	N	0.172205	T	0.16642	0.0400	N	0.04686	-0.185	0.58432	D	0.999991	B	0.11235	0.004	B	0.10450	0.005	T	0.49643	-0.8918	9	0.05351	T	0.99	1.2551	8.5498	0.33444	0.2039:0.0:0.263:0.5331	.	83	Q5BJF2	TMM97_HUMAN	V	83	.	ENSP00000226230:I83V	I	+	1	0	TMEM97	23676776	0.000000	0.05858	0.000000	0.03702	0.917000	0.54804	-3.022000	0.00642	-3.066000	0.00255	-1.407000	0.01130	ATT	TMEM97	-	pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97	ENSG00000109084		0.448	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM97	HGNC	protein_coding	OTTHUMT00000255675.2	-	0	61	0	A	NM_014573		26652649	1	tier1	-	no_errors	ENST00000226230	ensembl	human	known	74_37	missense	10.71	75	9	SNP	0.004	G	G	26652649	A	G	26652649	3	3	132	1	0	0	0	0	1	0	0	0	16271	217	8	4	253	4	TMEM97	17	26652649	Missense_Mutation	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	720898	26652649	54542561	149	33881											
FLOT2	2319	genome.wustl.edu	37	chr17	27210170	27210170	+	Frame_Shift_Del	DEL	T	T	-																															ccagggtctgcaggacgacgTttttgatgtcctgcacattc																										TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:27210170delT	ENST00000394908.4	-	4	406	c.302delA	c.(301-303)aacfs	p.N101fs	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Frame_Shift_Del_p.N101fs|FLOT2_ENST00000394906.2_Frame_Shift_Del_p.N156fs	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	101					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CAGGACGACGTTTTTGATGTC	0.582																																																	0													104	119	114					17																	27210170		2027	4189	6216	SO:0001589	frameshift_variant	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.302delA	17.37:g.27210170delT	ENSP00000378368:p.Asn101fs			Frame_Shift_Del	DEL	pfam_Band_7,smart_Band_7	p.N101fs	ENST00000394908.4	37	c.302	CCDS11245.2	17																																																																																			FLOT2	-	pfam_Band_7,smart_Band_7	ENSG00000132589		0.582	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3		0	42	0	T	NM_004475		27210170	-1	tier1		no_errors	ENST00000394908	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-	-	27210170	T	-	27210170	7	5	132	1	0	1	0	1	0	0	0	0	5959	1725	60	0	1016	0	FLOT2	17	27210170	Frame_Shift_Del	DEL	T	TCGA-LN-A9FO-01A-11D-A387-09	557521	27210170	53985040	150	33882											
DHX8	1659	genome.wustl.edu	37	chr17	41582146	41582146	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagatgtcaatccttgagCagagggagagcctgcccatc	10	7	11	13	0	1	4	1	1	0	3	3	5	2	4	4	1	3	1	4	1	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:41582146C>T	ENST00000262415.3	+	12	1753	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	DHX8_ENST00000540306.1_Nonsense_Mutation_p.Q561*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	561					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)		AATCCTTGAGCAGAGGGAGAG	0.458																																					NSCLC(56;1548 1661 49258 49987)												0													107	106	106					17																	41582146		2203	4300	6503	SO:0001587	stop_gained	0			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.1681C>T	17.37:g.41582146C>T	ENSP00000262415:p.Gln561*			Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q561*	ENST00000262415.3	37	c.1681	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.232507	0.97399	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0709	0.89405	0.0:1.0:0.0:0.0	.	.	.	.	X	561	.	ENSP00000262415:Q561X	Q	+	1	0	DHX8	38937672	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	7.734000	0.84928	2.526000	0.85167	0.555000	0.69702	CAG	DHX8	-	superfamily_P-loop_NTPase	ENSG00000067596		0.458	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	-	0	46	0	C			41582146	1	tier1	-	no_errors	ENST00000262415	ensembl	human	known	74_37	nonsense	44.64	30	25	SNP	1.000	T	T	41582146	C	T	41582146	4	4	132	1	0	0	0	0	0	1	0	0	4529	711	25	3	1727	3	DHX8	17	41582146	Nonsense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	14371976	41582146	39613064	151	33883											
CCDC103	388389	genome.wustl.edu	37	chr17	42980014	42980015	+	Frame_Shift_Del	DEL	AG	AG	-																															ctaagcctgctgagccgggcAgagagagagagctgcaaggg																										TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:42980014_42980015delAG	ENST00000417826.2	+	4	653_654	c.558_559delAG	c.(556-561)gcagagfs	p.E187fs	FAM187A_ENST00000412523.2_Intron|AC015936.3_ENST00000441312.1_RNA|FAM187A_ENST00000331733.4_5'UTR|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.E187fs|EFTUD2_ENST00000426333.2_5'Flank	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	187					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)	p.E187K(1)		endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				TGAGCCGGGCAGAGAGAGAGAG	0.644																																																	1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.558_559delAG	17.37:g.42980024_42980025delAG	ENSP00000391692:p.Glu187fs		A8K145|B8ZZU0	Frame_Shift_Del	DEL	NULL	p.S190fs	ENST00000417826.2	37	c.558_559	CCDS11490.1	17																																																																																			CCDC103	-	NULL	ENSG00000167131		0.644	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC103	HGNC	protein_coding	OTTHUMT00000334578.1		0	36	0	AG	NM_213607		42980015	1	tier1		no_errors	ENST00000410006	ensembl	human	known	74_37	frame_shift_del	16.67	20	4	DEL	0.000:0.999	-	-	42980015	AG	-	42980014	7	5	132	1	0	1	0	1	0	0	0	0	2745	175	7	0	568	0	CCDC103	17	42980014	Frame_Shift_Del	DEL	AG	TCGA-LN-A9FO-01A-11D-A387-09	1397868	42980014	38215196	152	33884											
SP2	6668	genome.wustl.edu	37	chr17	46005104	46005104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccaggggacaaacgcttcGagtgcgcccagtgtcagaag	10	6	13	12	3	1	1	1	0	0	1	3	3	2	2	2	2	2	1	2	2	2	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:46005104G>A	ENST00000376741.4	+	7	1893	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	AC003665.1_ENST00000585280.1_RNA|RP11-6N17.3_ENST00000584276.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	586					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						CAAACGCTTCGAGTGCGCCCA	0.582																																																	0													80	63	69					17																	46005104		2202	4299	6501	SO:0001583	missense	0				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.1756G>A	17.37:g.46005104G>A	ENSP00000365931:p.Glu586Lys		A6NK74	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E586K	ENST00000376741.4	37	c.1756	CCDS11521.2	17	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153566	0.57259	.	.	ENSG00000167182	ENST00000376741	T	0.19250	2.16	4.42	3.45	0.39498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.111629	0.64402	D	0.000014	T	0.12305	0.0299	N	0.04162	-0.26	0.80722	D	1	D	0.55800	0.973	P	0.49887	0.625	T	0.08953	-1.0697	10	0.09843	T	0.71	.	12.1845	0.54229	0.0867:0.0:0.9133:0.0	.	586	Q02086	SP2_HUMAN	K	586	ENSP00000365931:E586K	ENSP00000365931:E586K	E	+	1	0	SP2	43360103	1.000000	0.71417	0.940000	0.37924	0.803000	0.45373	7.416000	0.80143	1.454000	0.47793	0.462000	0.41574	GAG	SP2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167182		0.582	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1	-	0	32	0	G	NM_003110		46005104	1	tier1	-	no_errors	ENST00000376741	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	A	A	46005104	G	A	46005104	3	1	132	1	0	0	0	0	1	0	0	0	15009	1059	37	1	1782	1	SP2	17	46005104	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	3025090	46005104	35190106	153	33885											
MED13	9969	genome.wustl.edu	37	chr17	60059880	60059880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccctgagagcttcaaaacGtttttctgcttctttgccac	8	14	7	12	1	3	1	1	1	2	1	3	2	3	1	2	0	5	3	2	0	2	5	rs546862897		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:60059880G>A	ENST00000397786.2	-	16	3560	c.3484C>T	c.(3484-3486)Cgt>Tgt	p.R1162C		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1162					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.R1162C(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						GCTTCAAAACGTTTTTCTGCT	0.353																																																	1	Substitution - Missense(1)	lung(1)											131	119	123					17																	60059880		1879	4105	5984	SO:0001583	missense	0			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.3484C>T	17.37:g.60059880G>A	ENSP00000380888:p.Arg1162Cys		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.R1162C	ENST00000397786.2	37	c.3484	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079497	0.55753	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75938	-0.98	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	L	0.34521	1.04	0.80722	D	1	B	0.22746	0.074	B	0.13407	0.009	T	0.63107	-0.6711	10	0.54805	T	0.06	-0.3309	20.1356	0.98028	0.0:0.0:1.0:0.0	.	1162	Q9UHV7	MED13_HUMAN	C	1162;1161	ENSP00000380888:R1162C	ENSP00000262436:R1161C	R	-	1	0	MED13	57414662	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.159000	0.71856	2.755000	0.94549	0.650000	0.86243	CGT	MED13	-	NULL	ENSG00000108510		0.353	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1		0	24	0	G	NM_005121		60059880	-1			no_errors	ENST00000397786	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	60059880	G	A	60059880	3	1	132	1	0	0	0	0	1	0	0	0	9468	1145	40	1	3100	1	MED13	17	60059880	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	14054776	60059880	21135330	154	33886											
LRRC37A3	374819	genome.wustl.edu	37	chr17	62855652	62855652	+	Missense_Mutation	SNP	T	T	C	0	1	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	gtccgtatcccattctatctTggatgcctttacttcctgct	5	17	6	13	1	2	0	0	0	2	0	5	1	5	1	4	1	3	2	4	1	3	7			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:62855652T>C	ENST00000584306.1	-	11	5142	c.4612A>G	c.(4612-4614)Aag>Gag	p.K1538E	LRRC37A3_ENST00000400877.3_Missense_Mutation_p.K576E|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.K1538E|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.K656E|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.K515E	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1538						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						CATTCTATCTTGGATGCCTTT	0.522																																																	0													165	172	169					17																	62855652		2202	4294	6496	SO:0001583	missense	0			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.4612A>G	17.37:g.62855652T>C	ENSP00000464535:p.Lys1538Glu		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K1538E	ENST00000584306.1	37	c.4612	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	10.65	1.408868	0.25378	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.51817	0.69;0.69;0.69	2.39	1.1	0.20463	.	.	.	.	.	T	0.56978	0.2022	M	0.65498	2.005	0.09310	N	1	P;D	0.53151	0.941;0.958	B;P	0.60682	0.323;0.878	T	0.42103	-0.9471	9	0.59425	D	0.04	.	4.8525	0.13543	0.0:0.0:0.3244:0.6756	.	656;1538	B4DG20;O60309	.;L37A3_HUMAN	E	619;576;515;1538	ENSP00000383674:K576E;ENSP00000335617:K515E;ENSP00000325713:K1538E	ENSP00000325713:K1538E	K	-	1	0	LRRC37A3	60286114	0.000000	0.05858	0.025000	0.17156	0.011000	0.07611	0.003000	0.13083	1.098000	0.41479	0.155000	0.16302	AAG	LRRC37A3	-	NULL	ENSG00000176809		0.522	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1		0	152	0	T	NM_199340		62855652	-1			no_errors	ENST00000319651	ensembl	human	known	74_37	missense	6.67	196	14	SNP	0.006	C	C	62855652	T	C	62855652	3	2	132	1	0	0	0	0	1	0	0	0	9028	1821	63	4	308	4	LRRC37A3	17	62855652	Missense_Mutation	SNP	T	TCGA-LN-A9FO-01A-11D-A387-09	2795772	62855652	18339558	155	33887											
TTYH2	94015	genome.wustl.edu	37	chr17	72227120	72227120	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgatgccaaccacaccttCtctgggatcgatgctctggt	8	10	10	13	2	2	0	0	0	2	0	4	4	2	1	3	2	3	1	3	2	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr17:72227120C>G	ENST00000269346.4	+	3	470	c.396C>G	c.(394-396)ttC>ttG	p.F132L	TTYH2_ENST00000529107.1_Missense_Mutation_p.F111L	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	132						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ACCACACCTTCTCTGGGATCG	0.602																																																	0													178	137	151					17																	72227120		2203	4300	6503	SO:0001583	missense	0				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.396C>G	17.37:g.72227120C>G	ENSP00000269346:p.Phe132Leu		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	pfam_Tweety	p.F132L	ENST00000269346.4	37	c.396	CCDS32717.1	17	.	.	.	.	.	.	.	.	.	.	C	6.762	0.509488	0.12883	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.08008	3.14;3.14	5.35	4.39	0.52855	.	0.138233	0.52532	N	0.000061	T	0.02848	0.0085	N	0.02985	-0.445	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.14023	0.01;0.004	T	0.32052	-0.9921	10	0.02654	T	1	-30.2244	8.6598	0.34086	0.0:0.7652:0.1526:0.0822	.	111;132	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	L	132;111	ENSP00000269346:F132L;ENSP00000433089:F111L	ENSP00000269346:F132L	F	+	3	2	TTYH2	69738715	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.312000	0.43726	1.256000	0.44068	0.655000	0.94253	TTC	TTYH2	-	pfam_Tweety	ENSG00000141540		0.602	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TTYH2	HGNC	protein_coding	OTTHUMT00000387459.1		0	43	0	C			72227120	1			no_errors	ENST00000269346	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	G	G	72227120	C	G	72227120	3	3	132	1	0	0	0	0	1	0	0	0	16789	912	32	5	406	5	TTYH2	17	72227120	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	9371468	72227120	8968090	156	33888											
ICAM5	7087	genome.wustl.edu	37	chr19	10403825	10403825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgctggctctgggcctGctgggtccagtcactcgggc	2	9	16	14	2	2	0	1	0	1	0	4	0	3	0	3	4	2	3	3	4	0	0	rs370079975		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr19:10403825G>A	ENST00000221980.4	+	6	1431	c.1368G>A	c.(1366-1368)ctG>ctA	p.L456L		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	456	Ig-like C2-type 5.				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)			CTCTGGGCCTGCTGGGTCCAG	0.682																																																	0													36	35	35					19																	10403825		2200	4296	6496	SO:0001819	synonymous_variant	0			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.1368G>A	19.37:g.10403825G>A			Q9Y6F3	Silent	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.L456	ENST00000221980.4	37	c.1368	CCDS12233.1	19																																																																																			ICAM5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000105376		0.682	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	-	0	56	0	G	NM_003259		10403825	1	tier1	-	no_errors	ENST00000221980	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.932	A	A	10403825	G	A	10403825	2	1	132	1	0	0	0	0	0	0	0	1	7510	1306	46	3		3	ICAM5	19	10403825	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09		10403825	48725158	157	33889											
CCDC151	115948	genome.wustl.edu	37	chr19	11537295	11537295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcccgggcattgagggcctCttggttcaccacgtgcagtg	5	10	14	12	2	2	1	1	1	1	0	3	1	3	1	3	3	1	3	3	3	0	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr19:11537295C>G	ENST00000356392.4	-	6	898	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	CCDC151_ENST00000586836.1_Missense_Mutation_p.E80Q|CCDC151_ENST00000545100.1_Missense_Mutation_p.E217Q|CCDC151_ENST00000591179.1_Missense_Mutation_p.E211Q	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	271										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TTGAGGGCCTCTTGGTTCACC	0.622																																																	0													66	75	72					19																	11537295		2139	4235	6374	SO:0001583	missense	0				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.811G>C	19.37:g.11537295C>G	ENSP00000348757:p.Glu271Gln		B4DXT0|Q96CG5	Missense_Mutation	SNP	NULL	p.E271Q	ENST00000356392.4	37	c.811	CCDS42501.1	19	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425253	0.62733	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.83992	-1.79;-1.79	4.57	2.41	0.29592	.	0.388420	0.27976	N	0.017082	D	0.86108	0.5854	L	0.57536	1.79	0.29858	N	0.827909	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.988;0.988	T	0.78949	-0.2002	10	0.27785	T	0.31	-23.4808	8.2506	0.31715	0.0:0.7994:0.0:0.2006	.	271;271;251	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	Q	217;271;250	ENSP00000442987:E217Q;ENSP00000348757:E271Q	ENSP00000348757:E271Q	E	-	1	0	CCDC151	11398295	0.940000	0.31905	0.977000	0.42913	0.872000	0.50106	1.928000	0.40104	1.052000	0.40392	0.561000	0.74099	GAG	CCDC151	-	NULL	ENSG00000198003		0.622	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	HGNC	protein_coding	OTTHUMT00000458800.1	-	0	39	0	C	NM_145045		11537295	-1	tier1	-	no_errors	ENST00000356392	ensembl	human	known	74_37	missense	20.00	32	8	SNP	0.849	G	G	11537295	C	G	11537295	3	3	132	1	0	0	0	0	1	0	0	0	2793	922	32	5	1008	5	CCDC151	19	11537295	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	1133470	11537295	47591688	158	33890											
ZNF208	7757	genome.wustl.edu	37	chr19	22154522	22154522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttctctccagtatgaattCtcttatgttccataaggttt	8	19	6	8	0	2	1	0	1	2	0	6	1	4	1	2	1	0	4	2	1	4	7			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr19:22154522C>T	ENST00000397126.4	-	4	3462	c.3314G>A	c.(3313-3315)aGa>aAa	p.R1105K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R977I(2)|p.R1105I(1)		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)				AGTATGAATTCTCTTATGTTC	0.393																																																	3	Substitution - Missense(3)	large_intestine(3)											65	68	67					19																	22154522		2086	4239	6325	SO:0001583	missense	0			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.3314G>A	19.37:g.22154522C>T	ENSP00000380315:p.Arg1105Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R1105K	ENST00000397126.4	37	c.3314	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	7.902	0.734632	0.15574	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.02197	4.4	2.59	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	.	.	.	0.09310	N	1	B	0.29627	0.252	B	0.34590	0.186	T	0.45411	-0.9263	8	0.45353	T	0.12	.	9.2481	0.37539	0.0:0.8399:0.0:0.16	.	977	O43345	ZN208_HUMAN	K	1105;977	ENSP00000380315:R1105K	ENSP00000380315:R1105K	R	-	2	0	ZNF208	21946362	0.000000	0.05858	0.003000	0.11579	0.124000	0.20399	-0.834000	0.04391	1.029000	0.39812	0.297000	0.19635	AGA	ZNF208	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1		0	43	0	C	NM_007153		22154522	-1			no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	5.33	71	4	SNP	0.000	T	T	22154522	C	T	22154522	3	4	132	1	0	0	0	0	1	0	0	0	17814	913	32	3	532	3	ZNF208	19	22154522	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	10617227	22154522	36974461	159	33891											
ZNF568	374900	genome.wustl.edu	37	chr19	37416130	37416130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaagagtctgccctttcCgaggaagaagaggatacaac	13	8	10	10	1	2	3	1	0	2	3	4	6	3	5	2	2	3	0	2	2	5	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr19:37416130C>T	ENST00000333987.7	+	4	611	c.105C>T	c.(103-105)tcC>tcT	p.S35S	ZNF568_ENST00000427117.1_Silent_p.S35S|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000455427.2_5'UTR	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	35					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(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGCCCTTTCCGAGGAAGAAG	0.413																																																	0													142	127	132					19																	37416130		1877	4109	5986	SO:0001819	synonymous_variant	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.105C>T	19.37:g.37416130C>T			B4DS92|E7ER33|Q6N060|Q8NA64	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S35	ENST00000333987.7	37	c.105	CCDS42558.1	19																																																																																			ZNF568	-	NULL	ENSG00000198453		0.413	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	-	0	57	0	C	NM_198539		37416130	1	tier1	-	no_errors	ENST00000333987	ensembl	human	known	74_37	silent	37.38	66	40	SNP	0.000	T	T	37416130	C	T	37416130	2	4	132	1	0	0	0	0	0	0	0	1	18047	639	23	1		1	ZNF568	19	37416130	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	15261608	37416130	21712853	160	33892											
ZNF223	7766	genome.wustl.edu	37	chr19	44571272	44571272	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaaaaccattcaaatgtGaggattgtggaaagaagctt	18	9	10	4	0	1	2	1	1	0	1	1	5	1	4	1	2	2	1	1	2	6	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr19:44571272G>C	ENST00000434772.3	+	5	1546	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	ZNF223_ENST00000591793.1_Missense_Mutation_p.E541Q	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	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)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ATTCAAATGTGAGGATTGTGG	0.413																																																	0													106	107	107					19																	44571272		2203	4300	6503	SO:0001583	missense	0			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1291G>C	19.37:g.44571272G>C	ENSP00000401947:p.Glu431Gln		Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E541Q	ENST00000434772.3	37	c.1621	CCDS12635.1	19	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067941	0.36470	.	.	ENSG00000178386	ENST00000434772	T	0.11604	2.76	2.46	0.107	0.14544	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17577	0.0422	L	0.45352	1.415	0.09310	N	1	D	0.71674	0.998	D	0.69824	0.966	T	0.15263	-1.0443	9	0.49607	T	0.09	.	2.5191	0.04675	0.2816:0.0:0.3609:0.3574	.	431	Q9UK11	ZN223_HUMAN	Q	431	ENSP00000401947:E431Q	ENSP00000401947:E431Q	E	+	1	0	ZNF223	49263112	0.000000	0.05858	0.185000	0.23176	0.293000	0.27360	-1.339000	0.02652	0.316000	0.23135	0.313000	0.20887	GAG	ZNF223	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267022		0.413	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF223	Uniprot_gn	protein_coding	OTTHUMT00000460469.2	-	0	19	0	G			44571272	1	tier1	-	no_errors	ENST00000591793	ensembl	human	known	74_37	missense	36.96	29	17	SNP	0.011	C	C	44571272	G	C	44571272	3	2	132	1	0	0	0	0	1	0	0	0	17825	1291	45	5	1305	5	ZNF223	19	44571272	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	7155142	44571272	14557711	161	33893											
LRRC4B	94030	genome.wustl.edu	37	chr19	51021262	51021262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggtggtcttcatgacgtCgtccaggtccttgagggcgt	4	14	14	9	3	2	2	1	2	1	0	5	2	4	2	2	4	0	0	2	4	0	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr19:51021262C>T	ENST00000599957.1	-	3	1905	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	LRRC4B_ENST00000389201.3_Missense_Mutation_p.D570N			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	570					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)		TTCATGACGTCGTCCAGGTCC	0.622																																																	0													47	53	51					19																	51021262		2171	4275	6446	SO:0001583	missense	0			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.1708G>A	19.37:g.51021262C>T	ENSP00000471502:p.Asp570Asn		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D570N	ENST00000599957.1	37	c.1708	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259215	0.80246	.	.	ENSG00000131409	ENST00000389201	T	0.29142	1.58	3.06	3.06	0.35304	.	0.000000	0.64402	U	0.000004	T	0.40767	0.1130	L	0.59436	1.845	0.49687	D	0.999817	D	0.62365	0.991	P	0.53760	0.734	T	0.42396	-0.9454	10	0.66056	D	0.02	.	11.9297	0.52839	0.0:1.0:0.0:0.0	.	570	Q9NT99	LRC4B_HUMAN	N	570	ENSP00000373853:D570N	ENSP00000373853:D570N	D	-	1	0	LRRC4B	55713074	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.278000	0.78587	1.709000	0.51313	0.462000	0.41574	GAC	LRRC4B	-	NULL	ENSG00000131409		0.622	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	-	0	10	0	C	NM_001080457		51021262	-1	tier1	-	no_errors	ENST00000389201	ensembl	human	known	74_37	missense	40.00	6	4	SNP	1.000	T	T	51021262	C	T	51021262	3	4	132	1	0	0	0	0	1	0	0	0	9042	884	31	1	437	1	LRRC4B	19	51021262	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	6449990	51021262	8107721	162	33894											
KLK11	11012	genome.wustl.edu	37	chr19	51527571	51527571	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactatgtagcggctgaGgtgggagagacagtagttgg	10	9	18	4	1	0	3	0	2	0	1	0	5	0	4	0	4	2	4	0	4	4	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr19:51527571G>T	ENST00000594768.1	-	4	479				KLK11_ENST00000453757.3_Intron|KLK11_ENST00000391804.3_Missense_Mutation_p.L90I|KLK11_ENST00000594458.1_Intron|KLK11_ENST00000319720.7_Intron|KLK11_ENST00000600362.1_Intron	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TAGCGGCTGAGGTGGGAGAGA	0.587																																																	0													77	88	84					19																	51527571		2203	4300	6503	SO:0001627	intron_variant	0			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"Kallikreins", "Serine peptidases / Serine peptidases"	6359	protein-coding gene	gene with protein product		604434	"kallikrein 11"	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.294-5C>A	19.37:g.51527571G>T			O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L90I	ENST00000594768.1	37	c.268	CCDS12818.1	19	.	.	.	.	.	.	.	.	.	.	g	6.517	0.463620	0.12402	.	.	ENSG00000167757	ENST00000391804	D	0.88664	-2.41	4.28	0.846	0.18955	.	.	.	.	.	T	0.79112	0.4391	.	.	.	0.51767	D	0.999933	B	0.18166	0.026	B	0.22152	0.038	T	0.65138	-0.6241	7	.	.	.	.	6.4569	0.21934	0.4452:0.0:0.5548:0.0	.	90	Q8IXD7	.	I	90	ENSP00000375680:L90I	.	L	-	1	0	KLK11	56219383	0.998000	0.40836	0.996000	0.52242	0.764000	0.43329	0.871000	0.28023	0.404000	0.25506	0.462000	0.41574	CTC	KLK11	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167757		0.587	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	HGNC	protein_coding	OTTHUMT00000464314.2		0	40	0	G	NM_006853		51527571	-1			no_errors	ENST00000391804	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.569	T	T	51527571	G	T	51527571	1	4	132	0	1	0	0	0	0	0	0	0	8426	1000	35	3		3	KLK11	19	51527571	Intron	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	506309	51527571	7601412	163	33895											
ZNF446	55663	genome.wustl.edu	37	chr19	58991834	58991834	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgtgcagtccccggggcTagccaccggggaaagcacag	9	4	16	12	2	0	0	0	0	0	0	1	1	1	1	4	5	3	3	4	5	2	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr19:58991834T>A	ENST00000594369.1	+	7	1475	c.1094T>A	c.(1093-1095)cTa>cAa	p.L365Q	ZNF446_ENST00000335841.4_Nonstop_Mutation_p.*337K|ZNF446_ENST00000596341.1_Missense_Mutation_p.L314Q	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	365					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCCCGGGGCTAGCCACCGGG	0.652																																																	0													27	28	28					19																	58991834		2203	4299	6502	SO:0001583	missense	0				CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.1094T>A	19.37:g.58991834T>A	ENSP00000472802:p.Leu365Gln			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L365Q	ENST00000594369.1	37	c.1094	CCDS12982.1	19	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011642	0.35511	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	.	.	.	2.08	-2.87	0.05700	.	.	.	.	.	T	0.19406	0.0466	L	0.28740	0.885	0.09310	N	1	B	0.17465	0.022	B	0.11329	0.006	T	0.26052	-1.0114	8	0.51188	T	0.08	1.4023	0.0955	0.00043	0.2405:0.2368:0.2428:0.2799	.	365	Q9NWS9	ZN446_HUMAN	Q	365;365;262	.	ENSP00000336565:L365Q	L	+	2	0	ZNF446	63683646	0.287000	0.24315	0.000000	0.03702	0.002000	0.02628	-0.375000	0.07475	-0.735000	0.04837	0.454000	0.30748	CTA	ZNF446	-	NULL	ENSG00000083838		0.652	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	HGNC	protein_coding	OTTHUMT00000467052.1		0	58	0	T	NM_017908		58991834	1			no_errors	ENST00000594369	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.001	A	A	58991834	T	A	58991834	3	1	132	1	0	0	0	0	1	0	0	0	17967	1522	53	5	1116	5	ZNF446	19	58991834	Missense_Mutation	SNP	T	TCGA-LN-A9FO-01A-11D-A387-09	7464263	58991834	137149	164	33896											
TGM3	7053	genome.wustl.edu	37	chr20	2312957	2312957	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccctggaccctgaggaagGtaacgcatcccgcagttgga	9	7	13	12	2	0	1	0	1	0	0	2	4	2	4	3	4	1	4	3	4	2	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr20:2312957G>T	ENST00000381458.5	+	10	1705		c.e10+1			NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3						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)	CCTGAGGAAGGTAACGCATCC	0.562																																																	0													85	66	73					20																	2312957		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1642+1G>T	20.37:g.2312957G>T			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Splice_Site	SNP	-	e10+1	ENST00000381458.5	37	c.1642+1	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350911	0.41599	.	.	ENSG00000125780	ENST00000381458	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0023	0.80306	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGM3	2260957	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	5.804000	0.69135	2.640000	0.89533	0.655000	0.94253	.	TGM3	-	-	ENSG00000125780		0.562	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2		0	17	0	G	NM_003245	Intron	2312957	1			no_errors	ENST00000381458	ensembl	human	known	74_37	splice_site	8.57	32	3	SNP	1.000	T	T	2312957	G	T	2312957	5	4	132	1	0	0	0	0	0	0	1	0	15878	1275	44	3	1681	3	TGM3	20	2312957	Splice_Site	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09		2312957	60712563	165	33897											
ZNF341	84905	genome.wustl.edu	37	chr20	32376685	32376685	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggtgagaagccctacaaAtgctcagtgtgcgagtctgc	10	8	13	10	1	2	1	1	1	1	1	2	3	2	1	1	1	5	2	1	1	3	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr20:32376685A>G	ENST00000375200.1	+	13	2234	c.1869A>G	c.(1867-1869)aaA>aaG	p.K623K	RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Silent_p.K616K|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGCCCTACAAATGCTCAGTGT	0.567																																																	0													101	83	89					20																	32376685		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1869A>G	20.37:g.32376685A>G			A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N591S	ENST00000375200.1	37	c.1772		20																																																																																			ZNF341	-	NULL	ENSG00000131061		0.567	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		-	0	32	0	A			32376685	1	tier1	-	no_errors	ENST00000483118	ensembl	human	known	74_37	missense	34.33	44	23	SNP	0.996	G	G	32376685	A	G	32376685	2	3	132	1	0	0	0	0	0	0	0	1	17905	98	4	4		4	ZNF341	20	32376685	Silent	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	30063728	32376685	30648835	166	33898											
CEP250	11190	genome.wustl.edu	37	chr20	34084539	34084539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaacagaaagagctcagtGctcaggtacttcccactctg	12	8	10	11	0	3	3	2	0	1	3	4	4	4	3	1	1	4	3	1	1	3	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr20:34084539G>T	ENST00000397527.1	+	25	4021	c.3301G>T	c.(3301-3303)Gct>Tct	p.A1101S	CEP250_ENST00000342580.4_Missense_Mutation_p.A1045S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1101	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGAGCTCAGTGCTCAGGTACT	0.527																																																	0													48	46	47					20																	34084539		2203	4300	6503	SO:0001583	missense	0			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.3301G>T	20.37:g.34084539G>T	ENSP00000380661:p.Ala1101Ser		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.A1101S	ENST00000397527.1	37	c.3301	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	8.020	0.759440	0.15846	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10005	2.92;2.93	4.81	0.603	0.17541	.	1.012730	0.07905	N	0.973345	T	0.04861	0.0131	N	0.12182	0.205	0.20196	N	0.999927	B	0.13145	0.007	B	0.14023	0.01	T	0.45745	-0.9240	10	0.09084	T	0.74	.	3.679	0.08304	0.3582:0.0:0.4772:0.1646	.	1101	Q9BV73	CP250_HUMAN	S	1101;1045	ENSP00000380661:A1101S;ENSP00000341541:A1045S	ENSP00000341541:A1045S	A	+	1	0	CEP250	33547953	0.101000	0.21875	0.952000	0.39060	0.926000	0.56050	0.213000	0.17521	-0.004000	0.14419	0.650000	0.86243	GCT	CEP250	-	NULL	ENSG00000126001		0.527	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	-	0	48	0	G	NM_007186		34084539	1	tier1	-	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.931	T	T	34084539	G	T	34084539	3	4	132	1	0	0	0	0	1	0	0	0	3259	1319	46	3	3387	3	CEP250	20	34084539	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	1707854	34084539	28940981	167	33899											
LPIN3	64900	genome.wustl.edu	37	chr20	39986953	39986953	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgtttctgccccacGgacagcccttctatgctgcc	6	10	9	16	1	2	0	0	0	2	0	2	1	2	1	4	1	6	4	4	1	1	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr20:39986953G>T	ENST00000373257.3	+	18	2360	c.2269G>T	c.(2269-2271)Gga>Tga	p.G757*	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	757	C-LIP.				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)				TCTGCCCCACGGACAGCCCTT	0.592																																																	0													102	91	95					20																	39986953		2203	4300	6503	SO:0001587	stop_gained	0			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.2269G>T	20.37:g.39986953G>T	ENSP00000362354:p.Gly757*		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Nonsense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.G757*	ENST00000373257.3	37	c.2269	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727716	0.69074	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	.	.	.	5.55	-2.63	0.06133	.	0.775582	0.12143	N	0.495665	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6689	7.763	0.28963	0.5826:0.1222:0.2951:0.0	.	.	.	.	X	757;390	.	.	G	+	1	0	LPIN3	39420367	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.025000	0.13577	-0.802000	0.04421	-0.157000	0.13467	GGA	LPIN3	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000132793		0.592	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1		0	27	0	G	NM_022896		39986953	1			no_errors	ENST00000373257	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.000	T	T	39986953	G	T	39986953	4	4	132	1	0	0	0	0	0	1	0	0	8955	1117	39	2	2335	2	LPIN3	20	39986953	Nonsense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	5902414	39986953	23038567	168	33900											
SGK2	10110	genome.wustl.edu	37	chr20	42195101	42195101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcatgcctgctcctccCtgtccccccagagctgcctg	3	11	7	20	0	2	1	1	0	1	1	6	1	5	1	7	0	4	2	7	0	0	0	rs369635262		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr20:42195101C>T	ENST00000341458.4	+	1	365	c.146C>T	c.(145-147)cCt>cTt	p.P49L	SGK2_ENST00000426287.1_Intron|SGK2_ENST00000373077.1_Intron|SGK2_ENST00000373092.3_Intron|SGK2_ENST00000373100.1_Intron|SGK2_ENST00000423407.3_Intron	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	49					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)			CTGCTCCTCCCTGTCCCCCCA	0.607																																																	0													104	104	104					20																	42195101		2203	4300	6503	SO:0001583	missense	0			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.146C>T	20.37:g.42195101C>T	ENSP00000340608:p.Pro49Leu		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.P49L	ENST00000341458.4	37	c.146	CCDS13320.1	20	.	.	.	.	.	.	.	.	.	.	C	8.020	0.759506	0.15846	.	.	ENSG00000101049	ENST00000341458	T	0.72051	-0.62	3.35	1.29	0.21616	.	1.878420	0.03258	U	0.182867	T	0.46034	0.1372	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33085	-0.9882	10	0.25106	T	0.35	.	4.1494	0.10230	0.0:0.6036:0.0:0.3964	.	49	Q9HBY8	SGK2_HUMAN	L	49	ENSP00000340608:P49L	ENSP00000340608:P49L	P	+	2	0	SGK2	41628515	0.023000	0.18921	0.077000	0.20336	0.582000	0.36321	1.691000	0.37721	0.352000	0.24053	0.561000	0.74099	CCT	SGK2	-	NULL	ENSG00000101049		0.607	SGK2-002	KNOWN	basic|CCDS	protein_coding	SGK2	HGNC	protein_coding	OTTHUMT00000080383.1	-	0	57	0	C			42195101	1	tier1	-	no_errors	ENST00000341458	ensembl	human	known	74_37	missense	11.54	92	12	SNP	0.102	T	T	42195101	C	T	42195101	3	4	132	1	0	0	0	0	1	0	0	0	14254	681	24	3	148	3	SGK2	20	42195101	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	2208148	42195101	20830419	169	33901											
NCOA3	8202	genome.wustl.edu	37	chr20	46279857	46279857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcaacagcaacagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0	rs561036149	byFrequency	TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr20:46279857G>A	ENST00000371998.3	+	20	3974	c.3783G>A	c.(3781-3783)caG>caA	p.Q1261Q	NCOA3_ENST00000341724.6_Silent_p.Q1187Q|NCOA3_ENST00000371997.3_Silent_p.Q1252Q|NCOA3_ENST00000372004.3_Silent_p.Q1257Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1261	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	0.572													G|||	3	0.000599042	8e-04	0	5008	,	,		14246	0		0	False		,,,				2504	0.002																0													50	54	53					20																	46279857		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3783G>A	20.37:g.46279857G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.Q1261	ENST00000371998.3	37	c.3783	CCDS13407.1	20																																																																																			NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.572	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1		0	46	0	G	NM_006534		46279857	1			no_errors	ENST00000371998	ensembl	human	known	74_37	silent	5.62	84	5	SNP	0.971	A	A	46279857	G	A	46279857	2	1	132	1	0	0	0	0	0	0	0	1	10269	962	34	3		3	NCOA3	20	46279857	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	4084756	46279857	16745663	170	33902											
ZNF831	128611	genome.wustl.edu	37	chr20	57766387	57766387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagggcctggccccacccagGtggggaagccggcggcccct	6	3	16	16	2	0	0	0	0	0	0	0	1	0	1	7	7	1	0	7	7	2	0	rs371038563		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr20:57766387G>A	ENST00000371030.2	+	1	313	c.313G>A	c.(313-315)Gtg>Atg	p.V105M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	105	Pro-rich.						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)					CCCCACCCAGGTGGGGAAGCC	0.711													.|||	1	0.000199681	8e-04	0	5008	,	,		16388	0		0	False		,,,				2504	0																0								G	MET/VAL	0,3972		0,0,1986	8	11	10		313	-3.2	0	20		10	1,8249		0,1,4124	no	missense	ZNF831	NM_178457.1	21	0,1,6110	AA,AG,GG		0.0121,0.0,0.0082	benign	105/1678	57766387	1,12221	1986	4125	6111	SO:0001583	missense	0			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.313G>A	20.37:g.57766387G>A	ENSP00000360069:p.Val105Met		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V105M	ENST00000371030.2	37	c.313	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304562	0.23736	0.0	1.21E-4	ENSG00000124203	ENST00000371030	T	0.05513	3.43	5.48	-3.22	0.05125	.	.	.	.	.	T	0.03739	0.0106	N	0.24115	0.695	0.09310	N	1	B	0.26318	0.146	B	0.21360	0.034	T	0.42582	-0.9443	9	0.40728	T	0.16	-1.6366	5.5636	0.17158	0.1404:0.5349:0.1605:0.1642	.	105	Q5JPB2	ZN831_HUMAN	M	105	ENSP00000360069:V105M	ENSP00000360069:V105M	V	+	1	0	ZNF831	57199782	0.000000	0.05858	0.000000	0.03702	0.812000	0.45895	-0.151000	0.10175	-0.204000	0.10235	0.561000	0.74099	GTG	ZNF831	-	NULL	ENSG00000124203		0.711	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	-	0	8	0	G	NM_178457		57766387	1	tier1	-	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	41.67	14	10	SNP	0.000	A	A	57766387	G	A	57766387	3	1	132	1	0	0	0	0	1	0	0	0	18233	1261	44	3	315	3	ZNF831	20	57766387	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	11486530	57766387	5259133	171	33903											
LSM14B	149986	genome.wustl.edu	37	chr20	60704986	60704986	+	Silent	SNP	G	G	A	0	0	1	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	ctcaacggtcgtcaggcccaGccgagcagcaagacggccag	10	3	13	15	4	2	1	2	0	0	1	3	2	2	1	3	3	4	2	3	3	2	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr20:60704986G>A	ENST00000279068.6	+	4	733	c.573G>A	c.(571-573)caG>caA	p.Q191Q	LSM14B_ENST00000253001.4_Intron	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	191					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)			GTCAGGCCCAGCCGAGCAGCA	0.512																																																	0													30	33	32					20																	60704986		2066	4194	6260	SO:0001819	synonymous_variant	0			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.573G>A	20.37:g.60704986G>A			Q6PFW8|Q96LH8	Silent	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.Q191	ENST00000279068.6	37	c.573	CCDS46626.1	20																																																																																			LSM14B	-	NULL	ENSG00000149657		0.512	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM14B	HGNC	protein_coding	OTTHUMT00000079996.4		0	56	0	G	NM_144703		60704986	1			no_errors	ENST00000279068	ensembl	human	known	74_37	silent	5.13	73	4	SNP	0.983	A	A	60704986	G	A	60704986	2	1	132	1	0	0	0	0	0	0	0	1	9090	962	34	3		3	LSM14B	20	60704986	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	2938599	60704986	2320534	172	33904											
GCFC1	94104	genome.wustl.edu	37	chr21	34134551	34134551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaggctcattatcatgagGagtgaaatctcccaattctc	12	11	7	11	0	4	2	2	2	2	0	6	3	4	3	2	2	0	1	2	2	3	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr21:34134551G>T	ENST00000331923.4	-	4	916	c.727C>A	c.(727-729)Cct>Act	p.P243T	PAXBP1_ENST00000290178.4_Missense_Mutation_p.P243T|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	243					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)										TTATCATGAGGAGTGAAATCT	0.423																																																	0													83	82	83					21																	34134551		2203	4300	6503	SO:0001583	missense	0			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.727C>A	21.37:g.34134551G>T	ENSP00000328992:p.Pro243Thr		D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	pfam_GCFC_dom	p.P243T	ENST00000331923.4	37	c.727	CCDS13619.1	21	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170566	0.78452	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.51817	1.18;0.69	5.63	5.63	0.86233	.	0.166503	0.53938	D	0.000048	T	0.67230	0.2871	M	0.84082	2.675	0.80722	D	1	D;D	0.71674	0.984;0.998	P;P	0.61658	0.77;0.892	T	0.72020	-0.4416	10	0.87932	D	0	-16.1077	12.6195	0.56595	0.0763:0.0:0.9237:0.0	.	243;243	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	T	243	ENSP00000328992:P243T;ENSP00000290178:P243T	ENSP00000290178:P243T	P	-	1	0	GCFC1	33056422	1.000000	0.71417	0.950000	0.38849	0.997000	0.91878	6.469000	0.73555	2.650000	0.89964	0.557000	0.71058	CCT	PAXBP1	-	NULL	ENSG00000159086		0.423	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAXBP1	HGNC	protein_coding	OTTHUMT00000139563.1		0	23	0	G	NM_013329		34134551	-1			no_errors	ENST00000331923	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.992	T	T	34134551	G	T	34134551	3	4	132	1	0	0	0	0	1	0	0	0	6314	1174	41	3	2204	3	GCFC1	21	34134551	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09		34134551	13995344	173	33905											
DIP2A	23181	genome.wustl.edu	37	chr21	47954536	47954536	+	Silent	SNP	A	A	G	1	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	ggcagtacggtgggggtcacAgtgtcccacgcatccctgct	6	8	14	13	2	1	0	1	0	0	0	3	0	3	0	2	4	2	4	2	4	1	1			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr21:47954536A>G	ENST00000417564.2	+	13	1599	c.1578A>G	c.(1576-1578)acA>acG	p.T526T	DIP2A_ENST00000457905.3_Silent_p.T526T|DIP2A_ENST00000318711.7_Silent_p.T527T|Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000435722.3_Silent_p.T526T|DIP2A_ENST00000400274.1_Silent_p.T522T|DIP2A_ENST00000466639.1_Silent_p.T483T|DIP2A_ENST00000427143.2_Silent_p.T462T			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	526					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)		TGGGGGTCACAGTGTCCCACG	0.552																																																	0													40	42	41					21																	47954536		1918	4128	6046	SO:0001819	synonymous_variant	0			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.1578A>G	21.37:g.47954536A>G			A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.T527	ENST00000417564.2	37	c.1581	CCDS46655.1	21																																																																																			DIP2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000160305		0.552	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	-	0	54	0	A	NM_015151		47954536	1	tier1	-	no_errors	ENST00000318711	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.029	G	G	47954536	A	G	47954536	2	3	132	1	0	0	0	0	0	0	0	1	4541	175	7	4		4	DIP2A	21	47954536	Silent	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	13819985	47954536	175359	174	33906											
ASCC2	84164	genome.wustl.edu	37	chr22	30189408	30189408	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccacctggttgccatcGtatgtgtcatcgtactcatc	6	12	9	14	3	2	0	2	0	0	0	5	0	2	0	3	1	2	3	3	1	2	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr22:30189408G>T	ENST00000397771.2	-	18	2037	c.1860C>A	c.(1858-1860)taC>taA	p.Y620*	ASCC2_ENST00000542393.1_Nonsense_Mutation_p.Y544*|ASCC2_ENST00000307790.3_Nonsense_Mutation_p.Y620*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	620					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)			GGTTGCCATCGTATGTGTCAT	0.597																																																	0													93	68	76					22																	30189408		2203	4300	6503	SO:0001587	stop_gained	0			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.1860C>A	22.37:g.30189408G>T	ENSP00000380877:p.Tyr620*		B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Nonsense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.Y620*	ENST00000397771.2	37	c.1860	CCDS13869.1	22	.	.	.	.	.	.	.	.	.	.	G	35	5.458873	0.96240	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	.	.	.	5.23	-3.2	0.05156	.	0.056863	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.5068	11.0476	0.47867	0.5595:0.0:0.4405:0.0	.	.	.	.	X	620;620;544	.	ENSP00000305502:Y620X	Y	-	3	2	ASCC2	28519408	0.171000	0.23029	0.103000	0.21229	0.925000	0.55904	-0.569000	0.05902	-0.643000	0.05473	-0.192000	0.12808	TAC	ASCC2	-	NULL	ENSG00000100325		0.597	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1		0	28	0	G	NM_032204		30189408	-1			no_errors	ENST00000307790	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	0.986	T	T	30189408	G	T	30189408	4	4	132	1	0	0	0	0	0	1	0	0	1033	1140	40	2	429	2	ASCC2	22	30189408	Nonsense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09		30189408	21115158	175	33907											
EIF4ENIF1	56478	genome.wustl.edu	37	chr22	31836038	31836038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggcaggcctgaccggctgGgcacgttctgaggggttgtc	4	8	19	10	2	1	2	0	2	1	0	2	2	1	2	2	7	0	5	2	7	0	2			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr22:31836038G>A	ENST00000397525.1	-	19	3009	c.2786C>T	c.(2785-2787)cCc>cTc	p.P929L	EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P755L|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P905L|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P929L|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P584L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	929						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						TGACCGGCTGGGCACGTTCTG	0.592																																																	0													57	56	56					22																	31836038		2203	4300	6503	SO:0001583	missense	0			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.2786C>T	22.37:g.31836038G>A	ENSP00000380659:p.Pro929Leu		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	pfam_eIF4E_transporter	p.P929L	ENST00000397525.1	37	c.2786	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494151	0.64186	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	5.93	5.93	0.95920	.	0.170141	0.52532	D	0.000076	T	0.40546	0.1121	N	0.24115	0.695	0.58432	D	0.999998	P;P;B;B	0.39665	0.546;0.682;0.152;0.0	B;B;B;B	0.37239	0.244;0.244;0.08;0.0	T	0.39418	-0.9615	9	0.56958	D	0.05	-6.0085	14.5059	0.67752	0.0715:0.0:0.9285:0.0	.	755;929;754;905	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	L	755;929;929;905;584	.	ENSP00000328103:P929L	P	-	2	0	EIF4ENIF1	30166038	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	5.130000	0.64745	2.826000	0.97356	0.655000	0.94253	CCC	EIF4ENIF1	-	NULL	ENSG00000184708		0.592	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	-	0	35	0	G	NM_019843		31836038	-1	tier1	-	no_errors	ENST00000330125	ensembl	human	known	74_37	missense	42.31	30	22	SNP	0.997	A	A	31836038	G	A	31836038	3	1	132	1	0	0	0	0	1	0	0	0	5051	1232	43	3	175	3	EIF4ENIF1	22	31836038	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	1646630	31836038	19468528	176	33908											
CARD10	29775	genome.wustl.edu	37	chr22	37891912	37891912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcaaagggcatggggatCtgccctctcaggcaaggtga	10	6	14	11	1	2	1	1	1	2	0	3	2	2	2	1	5	1	3	1	5	2	0			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr22:37891912C>A	ENST00000403299.1	-	15	2374	c.2158G>T	c.(2158-2160)Gat>Tat	p.D720Y	CARD10_ENST00000251973.5_Missense_Mutation_p.D720Y|CARD10_ENST00000406271.3_Missense_Mutation_p.D434Y			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	720					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)					GCATGGGGATCTGCCCTCTCA	0.607																																																	0													76	65	69					22																	37891912		2203	4300	6503	SO:0001583	missense	0			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.2158G>T	22.37:g.37891912C>A	ENSP00000384570:p.Asp720Tyr		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.D720Y	ENST00000403299.1	37	c.2158	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174980	0.78564	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.50001	0.76;2.49;0.76;1.18	4.98	3.96	0.45880	.	0.115718	0.56097	D	0.000029	T	0.62233	0.2411	M	0.66939	2.045	0.38870	D	0.956669	P;D	0.67145	0.938;0.996	P;D	0.65773	0.671;0.938	T	0.68006	-0.5523	10	0.87932	D	0	-30.9919	11.0453	0.47855	0.0:0.9136:0.0:0.0864	.	720;434	Q9BWT7;Q8NC81	CAR10_HUMAN;.	Y	720;434;720;361;192	ENSP00000384570:D720Y;ENSP00000385799:D434Y;ENSP00000251973:D720Y;ENSP00000416239:D361Y	ENSP00000251973:D720Y	D	-	1	0	CARD10	36221858	0.996000	0.38824	0.794000	0.32065	0.980000	0.70556	3.803000	0.55560	2.289000	0.77006	0.561000	0.74099	GAT	CARD10	-	NULL	ENSG00000100065		0.607	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1		0	34	0	C	NM_014550		37891912	-1			no_errors	ENST00000251973	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.972	A	A	37891912	C	A	37891912	3	1	132	1	0	0	0	0	1	0	0	0	2651	913	32	3	968	3	CARD10	22	37891912	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	6055874	37891912	13412654	177	33909											
SUN2	25777	genome.wustl.edu	37	chr22	39138309	39138310	+	Frame_Shift_Ins	INS	-	-	A																															gtattccacctcctacctggINSatgcgagcagcagtttccct																										TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr22:39138309_39138310insA	ENST00000405510.1	-	10	1422_1423	c.1064_1065insT	c.(1063-1065)atcfs	p.I355fs	RP3-508I15.21_ENST00000609212.1_RNA|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000216064.4_Frame_Shift_Ins_p.I355fs|SUN2_ENST00000405018.1_Frame_Shift_Ins_p.I376fs|SUN2_ENST00000406622.1_Frame_Shift_Ins_p.I355fs|SUN2_ENST00000411587.2_Frame_Shift_Ins_p.I344fs|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	355					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CTCCTACCTGGATGCGAGCAGC	0.604																																																	0																																										SO:0001589	frameshift_variant	0			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1065dupT	22.37:g.39138310_39138310dupA	ENSP00000385740:p.Ile355fs		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Frame_Shift_Ins	INS	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.Q356fs	ENST00000405510.1	37	c.1065_1064	CCDS13978.1	22																																																																																			SUN2	-	NULL	ENSG00000100242		0.604	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1		0	25	0	-	XM_039332		39138310	-1	tier1		no_errors	ENST00000216064	ensembl	human	known	74_37	frame_shift_ins	70.37	8	19	INS	0.974:0.944	A	A	39138310	-	A	39138309	7	5	132	1	0	1	1	0	0	0	0	0	15439	1164	41	0	1128	0	SUN2	22	39138309	Frame_Shift_Ins	INS	-	TCGA-LN-A9FO-01A-11D-A387-09	1246397	39138309	12166257	178	33910											
ENTHD1	150350	genome.wustl.edu	37	chr22	40140021	40140021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttagcagaatcagagttaTttggaagaattcccagtaga	14	13	9	5	0	1	4	1	0	0	4	2	5	2	5	1	1	1	3	1	1	6	6			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr22:40140021T>C	ENST00000325157.6	-	7	1737	c.1487A>G	c.(1486-1488)aAt>aGt	p.N496S		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	496										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ATCAGAGTTATTTGGAAGAAT	0.433																																																	0													57	60	59					22																	40140021		2203	4300	6503	SO:0001583	missense	0			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.1487A>G	22.37:g.40140021T>C	ENSP00000317431:p.Asn496Ser		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.N496S	ENST00000325157.6	37	c.1487	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	T	3.814	-0.039055	0.07497	.	.	ENSG00000176177	ENST00000325157	T	0.29397	1.57	5.75	2.38	0.29361	.	1.156520	0.06369	N	0.713117	T	0.24470	0.0593	L	0.34521	1.04	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.28933	-1.0028	10	0.52906	T	0.07	0.097	6.32	0.21213	0.0:0.0827:0.3371:0.5802	.	496	Q8IYW4	ENTD1_HUMAN	S	496	ENSP00000317431:N496S	ENSP00000317431:N496S	N	-	2	0	ENTHD1	38469967	0.060000	0.20803	0.000000	0.03702	0.026000	0.11368	0.654000	0.24918	0.087000	0.17167	0.528000	0.53228	AAT	ENTHD1	-	NULL	ENSG00000176177		0.433	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	-	0	21	0	T	NM_152512		40140021	-1	tier1	-	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	18.42	62	14	SNP	0.000	C	C	40140021	T	C	40140021	3	2	132	1	0	0	0	0	1	0	0	0	5153	1493	52	4	340	4	ENTHD1	22	40140021	Missense_Mutation	SNP	T	TCGA-LN-A9FO-01A-11D-A387-09	1001712	40140021	11164545	179	33911											
EP300	2033	genome.wustl.edu	37	chr22	41558785	41558785	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacactggatcctgaactgTaagtacgatccccttgaata	13	10	7	11	1	0	2	0	2	0	0	2	4	2	3	3	1	2	2	3	1	5	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr22:41558785T>A	ENST00000263253.7	+	21	4947		c.e21+2			NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCTGAACTGTAAGTACGATC	0.363			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													144	136	139					22																	41558785		2203	4300	6503	SO:0001630	splice_region_variant	0	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.3728+2T>A	22.37:g.41558785T>A			B1AKC2	Splice_Site	SNP	-	e21+2	ENST00000263253.7	37	c.3728+2	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	T	28.7	4.946840	0.92593	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3246	0.74150	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39888731	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.329000	0.79170	2.212000	0.71576	0.528000	0.53228	.	EP300	-	-	ENSG00000100393		0.363	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1		0	44	0	T	NM_001429	Intron	41558785	1			no_errors	ENST00000263253	ensembl	human	known	74_37	splice_site	30.95	17	13	SNP	1.000	A	A	41558785	T	A	41558785	5	1	132	1	0	0	0	0	0	0	1	0	5164	1652	57	5	3812	5	EP300	22	41558785	Splice_Site	SNP	T	TCGA-LN-A9FO-01A-11D-A387-09	1418764	41558785	9745781	180	33912											
ZC3H7B	23264	genome.wustl.edu	37	chr22	41739432	41739432	+	Silent	SNP	C	C	A	0	0	0	1	1	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	cccataggcccccgggctggCgactacacctaccgtgaggg	7	5	13	16	3	0	1	0	1	0	0	0	2	0	1	5	4	2	1	5	4	3	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr22:41739432C>A	ENST00000352645.4	+	13	1568	c.1311C>A	c.(1309-1311)ggC>ggA	p.G437G	ZC3H7B_ENST00000351589.4_Silent_p.G437G	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	453					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCCGGGCTGGCGACTACACCT	0.632																																																	0													57	59	58					22																	41739432		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1311C>A	22.37:g.41739432C>A			A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G437	ENST00000352645.4	37	c.1311	CCDS14013.1	22																																																																																			ZC3H7B	-	NULL	ENSG00000100403		0.632	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	HGNC	protein_coding	OTTHUMT00000320696.1		0	70	0	C	NM_017590		41739432	1			no_errors	ENST00000351589	ensembl	human	known	74_37	silent	5.33	70	4	SNP	0.525	A	A	41739432	C	A	41739432	2	1	132	1	0	0	0	0	0	0	0	1	17621	755	27	2		2	ZC3H7B	22	41739432	Silent	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	180647	41739432	9565134	181	33913											
SMC1B	27127	genome.wustl.edu	37	chr22	45802661	45802661	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaacaattttgtgctttGactattatgcctatcttttc	10	18	4	9	0	1	1	0	1	1	0	2	1	1	1	2	0	3	1	2	0	5	8			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chr22:45802661G>T	ENST00000357450.4	-	3	383	c.384C>A	c.(382-384)gtC>gtA	p.V128V	SMC1B_ENST00000404354.3_Silent_p.V128V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	128					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)		TTTGTGCTTTGACTATTATGC	0.303																																																	0													82	78	79					22																	45802661		1815	4067	5882	SO:0001819	synonymous_variant	0			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.384C>A	22.37:g.45802661G>T			A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.V128	ENST00000357450.4	37	c.384	CCDS43027.1	22																																																																																			SMC1B	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000077935		0.303	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2		0	45	0	G	NM_148674		45802661	-1			no_errors	ENST00000357450	ensembl	human	known	74_37	silent	5.21	91	5	SNP	0.969	T	T	45802661	G	T	45802661	2	4	132	1	0	0	0	0	0	0	0	1	14827	1277	45	3		3	SMC1B	22	45802661	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	4063229	45802661	5501905	182	33914											
REPS2	9185	genome.wustl.edu	37	chrX	17165604	17165605	+	Stop_Codon_Ins	INS	-	-	C																															gtccggtcactgtgttgtgaINScccccccatggttcaagtga																										TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chrX:17165604_17165605insC	ENST00000357277.3	+	0	2154_2155				REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Stop_Codon_Ins|REPS2_ENST00000380064.4_Stop_Codon_Ins	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2						epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTGTGTTGTGACCCCCCCATGG	0.416																																																	0																																										SO:0001567	stop_retained_variant	0			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"EF-hand domain containing"	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1987dupC	X.37:g.17165611_17165611dupC			A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Frame_Shift_Ins	INS	smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.*661fs	ENST00000357277.3	37	c.1983_1984	CCDS14180.2	X																																																																																			REPS2	-	NULL	ENSG00000169891		0.416	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REPS2	HGNC	protein_coding	OTTHUMT00000316778.1		0	23	0	-	NM_004726		17165605	1	tier1		no_errors	ENST00000357277	ensembl	human	known	74_37	frame_shift_ins	60.42	19	29	INS	1.000:0.910	C	C	17165605	-	C	17165604	7	5	132	1	0	1	1	0	0	0	0	0	13274	288	10	0	2053	0	REPS2	23	17165604	Stop_Codon_Ins	INS	-	TCGA-LN-A9FO-01A-11D-A387-09		17165604	138104956	183	33915											
KDM5C	8242	genome.wustl.edu	37	chrX	53223826	53223826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtagaggaggccgtgctcGatgatgccagtggactgggc	7	9	17	8	2	0	2	0	1	0	1	1	5	0	4	2	4	2	2	2	4	1	2	rs370672146		TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chrX:53223826G>A	ENST00000375401.3	-	23	4065	c.3533C>T	c.(3532-3534)tCg>tTg	p.S1178L	KDM5C_ENST00000375379.3_Missense_Mutation_p.S1178L|KDM5C_ENST00000404049.3_Missense_Mutation_p.S1177L|KDM5C_ENST00000452825.3_Missense_Mutation_p.S1111L|KDM5C_ENST00000375383.3_Missense_Mutation_p.S1137L	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1178					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						GGCCGTGCTCGATGATGCCAG	0.607			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0								G	LEU/SER,LEU/SER	0,3835		0,0,0,1632,571	232	165	188		3332,3533	1.8	0	X		188	1,6727		0,0,1,2428,1871	no	missense,missense	KDM5C	NM_001146702.1,NM_004187.3	145,145	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	benign,benign	1111/1380,1178/1561	53223826	1,10562	2203	4300	6503	SO:0001583	missense	0			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.3533C>T	X.37:g.53223826G>A	ENSP00000364550:p.Ser1178Leu		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.S1178L	ENST00000375401.3	37	c.3533	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.099365	0.00360	0.0	1.49E-4	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.86694	-2.16;-1.87;-1.87;-1.87;-2.01	4.61	1.82	0.25136	Zinc finger, FYVE/PHD-type (1);	0.976137	0.08428	N	0.947356	T	0.75177	0.3814	N	0.12831	0.26	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.60546	-0.7242	10	0.45353	T	0.12	0.0046	7.0758	0.25203	0.2851:0.0:0.7149:0.0	.	1111;1177;1178	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	L	1111;1178;1177;1178;1137	ENSP00000445176:S1111L;ENSP00000364550:S1178L;ENSP00000385394:S1177L;ENSP00000364528:S1178L;ENSP00000364532:S1137L	ENSP00000364528:S1178L	S	-	2	0	KDM5C	53240551	0.000000	0.05858	0.002000	0.10522	0.104000	0.19210	0.236000	0.17967	-0.027000	0.13873	0.525000	0.51046	TCG	KDM5C	-	superfamily_Znf_FYVE_PHD	ENSG00000126012		0.607	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	-	0	44	0	G	NM_004187		53223826	-1	tier1	-	no_errors	ENST00000375401	ensembl	human	known	74_37	missense	52.50	19	21	SNP	0.005	A	A	53223826	G	A	53223826	3	1	132	1	0	0	0	0	1	0	0	0	8162	1059	37	1	1263	1	KDM5C	23	53223826	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	36058222	53223826	102046734	184	33916											
FAM46D	169966	genome.wustl.edu	37	chrX	79698376	79698376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctacttgactttttacCaaaagatgtaaagaaggaaa	16	12	7	6	0	1	3	0	1	1	2	1	4	1	4	1	1	2	1	1	1	8	6			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chrX:79698376C>A	ENST00000308293.5	+	3	577	c.338C>A	c.(337-339)cCa>cAa	p.P113Q	FAM46D_ENST00000538312.1_Missense_Mutation_p.P113Q	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	113										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GACTTTTTACCAAAAGATGTA	0.388																																																	0													91	87	88					X																	79698376		2203	4299	6502	SO:0001583	missense	0			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"cancer/testis antigen 112"					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.338C>A	X.37:g.79698376C>A	ENSP00000308575:p.Pro113Gln		B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	pfam_DUF1693	p.P113Q	ENST00000308293.5	37	c.338	CCDS14446.1	X	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443202	0.43429	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.48522	0.81;0.81	4.27	4.27	0.50696	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79624	-0.1726	10	0.87932	D	0	-7.9	14.5078	0.67764	0.0:1.0:0.0:0.0	.	113	Q8NEK8	FA46D_HUMAN	Q	113	ENSP00000443410:P113Q;ENSP00000308575:P113Q	ENSP00000308575:P113Q	P	+	2	0	FAM46D	79585032	1.000000	0.71417	0.999000	0.59377	0.233000	0.25261	7.323000	0.79105	1.965000	0.57142	0.538000	0.68166	CCA	FAM46D	-	pfam_DUF1693	ENSG00000174016		0.388	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46D	HGNC	protein_coding	OTTHUMT00000057338.1	-	0	9	0	C	NM_152630		79698376	1	tier1	-	no_errors	ENST00000308293	ensembl	human	known	74_37	missense	84.44	7	38	SNP	1.000	A	A	79698376	C	A	79698376	3	1	132	1	0	0	0	0	1	0	0	0	5590	594	21	3	340	3	FAM46D	23	79698376	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	26474550	79698376	75572184	185	33917											
KLHL4	56062	genome.wustl.edu	37	chrX	86873036	86873036	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgctccaattttctcataAagcagctccatccttcaaac	11	14	3	13	0	2	0	2	0	1	0	6	0	5	0	3	0	4	3	3	0	4	5			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chrX:86873036A>T	ENST00000373119.4	+	4	974	c.829A>T	c.(829-831)Aag>Tag	p.K277*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.K277*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	277						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTTTCTCATAAAGCAGCTCCA	0.433																																																	0													105	87	93					X																	86873036		2203	4300	6503	SO:0001587	stop_gained	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.829A>T	X.37:g.86873036A>T	ENSP00000362211:p.Lys277*		B2RTW2|Q9Y3J5	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.K277*	ENST00000373119.4	37	c.829	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	A	38	6.708327	0.97780	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	4.74	4.74	0.60224	.	0.058199	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6502	0.56757	1.0:0.0:0.0:0.0	.	.	.	.	X	277	.	ENSP00000362206:K277X	K	+	1	0	KLHL4	86759692	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.636000	0.91010	1.575000	0.49775	0.408000	0.27601	AAG	KLHL4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000102271		0.433	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	-	0	23	0	A			86873036	1	tier1	-	no_errors	ENST00000373114	ensembl	human	known	74_37	nonsense	28.36	47	19	SNP	1.000	T	T	86873036	A	T	86873036	4	4	132	1	0	0	0	0	0	1	0	0	8418	15	1	5	843	5	KLHL4	23	86873036	Nonsense_Mutation	SNP	A	TCGA-LN-A9FO-01A-11D-A387-09	7174660	86873036	68397524	186	33918											
GPRASP2	114928	genome.wustl.edu	37	chrX	101970762	101970762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagctcaggacaaataGagaagattgttttgaatctg	14	11	10	6	0	2	3	1	1	1	2	3	5	3	4	1	1	1	2	1	1	5	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chrX:101970762G>T	ENST00000535209.1	+	4	1796	c.965G>T	c.(964-966)aGa>aTa	p.R322I	GPRASP2_ENST00000543253.1_Missense_Mutation_p.R322I|GPRASP2_ENST00000332262.5_Missense_Mutation_p.R322I			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	322						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGACAAATAGAGAAGATTGT	0.448																																																	0													106	103	104					X																	101970762		2203	4300	6503	SO:0001583	missense	0			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.965G>T	X.37:g.101970762G>T	ENSP00000437394:p.Arg322Ile		D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.R322I	ENST00000535209.1	37	c.965	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	G	1.885	-0.456896	0.04540	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.10005	2.92;2.92;2.92	4.2	2.44	0.29823	.	0.000000	0.49305	D	0.000142	T	0.12689	0.0308	L	0.58101	1.795	0.43662	D	0.996089	P	0.48911	0.917	P	0.47470	0.548	T	0.06607	-1.0817	10	0.39692	T	0.17	.	3.888	0.09107	0.2254:0.197:0.5777:0.0	.	322	Q96D09	GASP2_HUMAN	I	322	ENSP00000437872:R322I;ENSP00000437394:R322I;ENSP00000339057:R322I	ENSP00000339057:R322I	R	+	2	0	GPRASP2	101857418	1.000000	0.71417	0.937000	0.37676	0.034000	0.12701	0.849000	0.27723	0.545000	0.28902	-0.192000	0.12808	AGA	GPRASP2	-	NULL	ENSG00000158301		0.448	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	-	0	36	0	G	NM_138437		101970762	1	tier1	-	no_errors	ENST00000332262	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.832	T	T	101970762	G	T	101970762	3	4	132	1	0	0	0	0	1	0	0	0	6750	942	33	3	967	3	GPRASP2	23	101970762	Missense_Mutation	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	15097726	101970762	53299798	187	33919											
KCNE1L	23630	genome.wustl.edu	37	chrX	108868055	108868055	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgtagaagatcatgatGagcaggatgtagagataggc	14	7	15	5	1	1	5	1	2	0	3	1	7	1	6	0	3	1	3	0	3	4	3			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chrX:108868055G>T	ENST00000372101.2	-	1	338	c.195C>A	c.(193-195)ctC>ctA	p.L65L		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	65					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|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 transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						AGATCATGATGAGCAGGATGT	0.657																																																	0													45	40	42					X																	108868055		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"Potassium channels"	6241	protein-coding gene	gene with protein product		300328	"potassium voltage-gated channel, Isk-related family, member 1-like"			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.195C>A	X.37:g.108868055G>T				Silent	SNP	NULL	p.L65	ENST00000372101.2	37	c.195	CCDS14547.1	X																																																																																			KCNE1L	-	NULL	ENSG00000176076		0.657	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNE1L	HGNC	protein_coding	OTTHUMT00000057892.1		0	17	0	G	NM_012282		108868055	-1			no_errors	ENST00000372101	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T	T	108868055	G	T	108868055	2	4	132	1	0	0	0	0	0	0	0	1	8049	1277	45	3		3	KCNE1L	23	108868055	Silent	SNP	G	TCGA-LN-A9FO-01A-11D-A387-09	6897293	108868055	46402505	188	33920											
AMMECR1	9949	genome.wustl.edu	37	chrX	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-																															gtggcgacagggcgatccccCcgccgccgccgccgcagccc																										TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	CCG	CCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggcggg>ggg	p.80_81GG>G	AMMECR1_ENST00000496695.1_5'Flank|AMMECR1_ENST00000372059.2_In_Frame_Del_p.80_81GG>G|AMMECR1_ENST00000372057.1_5'UTR	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734																																																	0									,,	57,2761		4,39,10,1217,288					,,	4.4	1			10	122,4848		9,60,44,1818,1152	no	coding,utr-5,coding	AMMECR1	NM_015365.2,NM_001171689.1,NM_001025580.1	,,	13,99,54,3035,1440	A1A1,A1R,A1,RR,R		2.4547,2.0227,2.2984	,,	,,		179,7609				SO:0001651	inframe_deletion	0			AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.240_242delCGG	X.37:g.109561067_109561069delCCG	ENSP00000262844:p.Gly82del		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	In_Frame_Del	DEL	pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1	p.G82in_frame_del	ENST00000262844.5	37	c.242_240	CCDS14551.1	X																																																																																			AMMECR1	-	NULL	ENSG00000101935		0.734	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMMECR1	HGNC	protein_coding	OTTHUMT00000057907.1		0	15	0	CCG			109561060	-1			no_errors	ENST00000262844	ensembl	human	known	74_37	in_frame_del	8.00	69	6	DEL	1.000:1.000:0.999	0	-	109561060	CCG	-	109561058	7	5	132	1	0	1	0	1	0	0	0	0	578	623	22	0	783	0	AMMECR1	23	109561058	In_Frame_Del	DEL	CCG	TCGA-LN-A9FO-01A-11D-A387-09	693003	109561058	45709502	189	33921											
SLITRK4	139065	genome.wustl.edu	37	chrX	142718078	142718078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accattgggagtggtgtagcCattttccagctgagatggag	9	11	14	7	0	0	1	0	1	0	1	1	4	1	3	3	3	2	2	3	3	1	4			TCGA-LN-A9FO-01A-11D-A387-09	TCGA-LN-A9FO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5368be89-2d00-4206-a8d3-b96639295db4	e1e94442-c85e-4d32-9f22-9a1c2bf12624	g.chrX:142718078C>G	ENST00000381779.4	-	2	1072	c.847G>C	c.(847-849)Ggc>Cgc	p.G283R	SLITRK4_ENST00000356928.1_Missense_Mutation_p.G283R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.G283R	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	283						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)					GTGGTGTAGCCATTTTCCAGC	0.448																																																	0													138	120	126					X																	142718078		2203	4300	6503	SO:0001583	missense	0			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.847G>C	X.37:g.142718078C>G	ENSP00000371198:p.Gly283Arg		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G283R	ENST00000381779.4	37	c.847	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	C	7.324	0.617458	0.14129	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.44083	0.93;0.93;0.93	5.88	4.12	0.48240	.	0.262685	0.36303	N	0.002675	T	0.23611	0.0571	N	0.14661	0.345	0.44275	D	0.99713	B	0.09022	0.002	B	0.12156	0.007	T	0.04767	-1.0928	10	0.23302	T	0.38	-2.0458	8.3754	0.32440	0.0:0.7524:0.0:0.2476	.	283	Q8IW52	SLIK4_HUMAN	R	283	ENSP00000371198:G283R;ENSP00000349400:G283R;ENSP00000336627:G283R	ENSP00000336627:G283R	G	-	1	0	SLITRK4	142545744	0.987000	0.35691	1.000000	0.80357	0.945000	0.59286	1.492000	0.35594	0.627000	0.30340	0.600000	0.82982	GGC	SLITRK4	-	NULL	ENSG00000179542		0.448	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	-	0	35	0	C	NM_173078		142718078	-1	tier1	-	no_errors	ENST00000338017	ensembl	human	known	74_37	missense	37.08	55	33	SNP	0.998	G	G	142718078	C	G	142718078	3	3	132	1	0	0	0	0	1	0	0	0	14790	594	21	5	1670	5	SLITRK4	23	142718078	Missense_Mutation	SNP	C	TCGA-LN-A9FO-01A-11D-A387-09	33157020	142718078	12552482	190	33922											
MEGF6	1953	genome.wustl.edu	37	chr1	3421858	3421858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cacaggccacgcccactgggCaggtgcatgcctgccagcac	8	4	12	17	1	0	0	0	0	0	0	0	0	0	0	4	3	4	3	4	3	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:3421858C>A	ENST00000356575.4	-	17	2328	c.2102G>T	c.(2101-2103)tGc>tTc	p.C701F	MEGF6_ENST00000294599.4_Missense_Mutation_p.C596F	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	701						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)		GCCCACTGGGCAGGTGCATGC	0.692																																					Ovarian(73;978 3658)												0													18	24	22					1																	3421858		2099	4213	6312	SO:0001583	missense	0			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.2102G>T	1.37:g.3421858C>A	ENSP00000348982:p.Cys701Phe		Q4AC86|Q5VV39	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.C701F	ENST00000356575.4	37	c.2102	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718737	0.48622	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.67698	-0.28;-0.28	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	H	0.99312	4.51	0.51012	D	0.999908	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94399	0.7621	10	0.87932	D	0	-14.5733	16.9827	0.86333	0.0:1.0:0.0:0.0	.	701;596	O75095;O75095-2	MEGF6_HUMAN;.	F	596;701	ENSP00000294599:C596F;ENSP00000348982:C701F	ENSP00000294599:C596F	C	-	2	0	MEGF6	3411718	1.000000	0.71417	0.878000	0.34440	0.033000	0.12548	5.761000	0.68801	2.160000	0.67779	0.462000	0.41574	TGC	MEGF6	-	smart_EG-like_dom,smart_EGF_laminin	ENSG00000162591		0.692	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	-	0	82	0	C	NM_001409		3421858	-1	tier1	-	no_errors	ENST00000356575	ensembl	human	known	74_37	missense	7.29	89	7	SNP	1.000	A	A	3421858	C	A	3421858	3	1	133	1	0	0	0	0	1	0	0	0	9500	710	25	3	2607	3	MEGF6	1	3421858	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		3421858	245828763	1	33923											
TP73	7161	genome.wustl.edu	37	chr1	3644716	3644716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcagagcccccctgccGtccccgcccttggtgccggt	4	7	11	19	3	1	1	1	0	0	1	2	1	2	1	8	2	4	1	8	2	1	1	rs202137544		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:3644716G>T	ENST00000378295.4	+	9	1164	c.1009G>T	c.(1009-1011)Gtc>Ttc	p.V337F	TP73_ENST00000603362.1_Missense_Mutation_p.V337F|TP73_ENST00000378288.4_Missense_Mutation_p.V288F|TP73_ENST00000357733.3_Missense_Mutation_p.V337F|TP73_ENST00000346387.4_Missense_Mutation_p.V337F|TP73_ENST00000604074.1_Missense_Mutation_p.V337F|TP73_ENST00000354437.4_Missense_Mutation_p.V337F|TP73_ENST00000604479.1_Missense_Mutation_p.V337F|TP73_ENST00000378290.4_Missense_Mutation_p.V266F|TP73_ENST00000378285.1_Missense_Mutation_p.V288F|TP73_ENST00000378280.1_Missense_Mutation_p.V288F	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	337					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)	p.V337I(1)		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)		CCCCCCTGCCGTCCCCGCCCT	0.682																																																	1	Substitution - Missense(1)	endometrium(1)											69	71	70					1																	3644716		2203	4300	6503	SO:0001583	missense	0			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.1009G>T	1.37:g.3644716G>T	ENSP00000367545:p.Val337Phe		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.V337F	ENST00000378295.4	37	c.1009	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	G	8.212	0.800488	0.16397	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99436	-5.71;-5.85;-5.61;-5.72;-5.72;-5.86;-5.9;-5.71	4.79	-4.77	0.03219	.	0.363465	0.30879	N	0.008688	D	0.97492	0.9179	L	0.36672	1.1	0.21897	N	0.999482	P;P;P;P;B;P	0.45212	0.834;0.853;0.538;0.538;0.409;0.71	B;P;B;B;B;B	0.48840	0.139;0.592;0.223;0.321;0.296;0.257	D	0.97371	0.9976	10	0.15066	T	0.55	-13.2127	8.8361	0.35113	0.3013:0.1393:0.5594:0.0	.	288;288;288;288;337;337	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	F	337;337;337;337;288;288;288;266	ENSP00000367545:V337F;ENSP00000346423:V337F;ENSP00000350366:V337F;ENSP00000340740:V337F;ENSP00000367537:V288F;ENSP00000367534:V288F;ENSP00000367529:V288F;ENSP00000367539:V266F	ENSP00000340740:V337F	V	+	1	0	TP73	3634576	0.987000	0.35691	0.020000	0.16555	0.083000	0.17756	1.208000	0.32345	-0.953000	0.03645	0.549000	0.68633	GTC	TP73	-	NULL	ENSG00000078900		0.682	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	-	0	198	0	G	NM_005427		3644716	1	tier1	-	no_errors	ENST00000378295	ensembl	human	known	74_37	missense	6.03	187	12	SNP	0.006	T	T	3644716	G	T	3644716	3	4	133	1	0	0	0	0	1	0	0	0	16441	1145	40	2	1082	2	TP73	1	3644716	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	222858	3644716	245605905	2	33924											
KIF1B	23095	genome.wustl.edu	37	chr1	10292396	10292396	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aggccattaaaatgtcgggaGcctcagtgaaggtggctgtc	10	9	14	8	1	1	1	1	1	0	0	3	2	1	2	2	4	1	1	2	4	3	1	rs371015089		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:10292396G>T	ENST00000377086.1	+	2	212	c.10G>T	c.(10-12)Gcc>Tcc	p.A4S	KIF1B_ENST00000377081.1_Missense_Mutation_p.A4S|KIF1B_ENST00000263934.6_Missense_Mutation_p.A4S|KIF1B_ENST00000377093.4_Missense_Mutation_p.A4S|KIF1B_ENST00000377083.1_Missense_Mutation_p.A4S			O60333	KIF1B_HUMAN	kinesin family member 1B	4					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)		AATGTCGGGAGCCTCAGTGAA	0.418																																																	0													67	64	65					1																	10292396		2203	4300	6503	SO:0001583	missense	0			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.10G>T	1.37:g.10292396G>T	ENSP00000366290:p.Ala4Ser		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A4S	ENST00000377086.1	37	c.10		1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023884	0.35701	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.72725	-0.48;-0.68;-0.61;-0.68;-0.62	5.42	5.42	0.78866	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	N	0.01640	-0.785	0.80722	D	1	P;P;P;B;B;P;B	0.40515	0.719;0.55;0.719;0.376;0.057;0.518;0.198	B;B;P;B;B;B;B	0.48304	0.241;0.241;0.573;0.223;0.074;0.226;0.085	T	0.56715	-0.7933	10	0.02654	T	1	.	19.5793	0.95459	0.0:0.0:1.0:0.0	.	4;4;4;4;4;4;4	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	S	4	ENSP00000263934:A4S;ENSP00000366297:A4S;ENSP00000366290:A4S;ENSP00000366287:A4S;ENSP00000366284:A4S	ENSP00000263934:A4S	A	+	1	0	KIF1B	10214983	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.882000	0.92420	2.709000	0.92574	0.591000	0.81541	GCC	KIF1B	-	superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000054523		0.418	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	-	0	35	0	G			10292396	1	tier1	-	no_errors	ENST00000263934	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	10292396	G	T	10292396	3	4	133	1	0	0	0	0	1	0	0	0	8311	971	34	3	12	3	KIF1B	1	10292396	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	6647680	10292396	238958225	3	33925											
PTCHD2	57540	genome.wustl.edu	37	chr1	11576105	11576105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctaccgccaggccaccCacctggaagacccacagctg	11	3	8	19	1	0	1	0	0	0	1	0	2	0	2	7	2	2	1	7	2	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:11576105C>A	ENST00000294484.6	+	6	1774	c.1636C>A	c.(1636-1638)Cac>Aac	p.H546N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.H546N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	546	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				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)		CCAGGCCACCCACCTGGAAGA	0.592																																																	0													79	93	88					1																	11576105		2153	4247	6400	SO:0001583	missense	0			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.1636C>A	1.37:g.11576105C>A	ENSP00000294484:p.His546Asn		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.H546N	ENST00000294484.6	37	c.1636	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876315	0.91664	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.95412	-3.7;-3.7	5.54	5.54	0.83059	Sterol-sensing domain (1);	0.045053	0.85682	D	0.000000	D	0.95796	0.8632	L	0.55990	1.75	0.80722	D	1	P	0.48834	0.916	P	0.53185	0.72	D	0.94328	0.7559	10	0.26408	T	0.33	-37.1547	18.4729	0.90781	0.0:1.0:0.0:0.0	.	546	Q9P2K9	PTHD2_HUMAN	N	546	ENSP00000294484:H546N;ENSP00000374226:H546N	ENSP00000294484:H546N	H	+	1	0	PTCHD2	11498692	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	7.662000	0.83803	2.602000	0.87976	0.555000	0.69702	CAC	PTCHD2	-	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	ENSG00000204624		0.592	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	-	0	73	0	C	XM_052561		11576105	1	tier1	-	no_errors	ENST00000294484	ensembl	human	known	74_37	missense	9.72	65	7	SNP	1.000	A	A	11576105	C	A	11576105	3	1	133	1	0	0	0	0	1	0	0	0	12775	594	21	3	1654	3	PTCHD2	1	11576105	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1283709	11576105	237674516	4	33926											
C1orf187	374946	genome.wustl.edu	37	chr1	11766385	11766386	+	Missense_Mutation	DNP	CT	CT	AA																															tgctgcccctggagctgagcCtggcaggcgcccttgcacct																										TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:11766385_11766386CT>AA	ENST00000294485.5	+	2	205_206	c.70_71CT>AA	c.(70-72)CTg>AAg	p.L24K		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GGAGCTGAGCCTGGCAGGCGCC	0.658																																																	0																																										SO:0001583	missense	0			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	Exception_encountered	1.37:g.11766385_11766386delinsAA	ENSP00000294485:p.Leu24Lys			Missense_Mutation	SNP	NULL	p.L24M|p.L24Q	ENST00000294485.5	37	c.70|c.71	CCDS135.1	1																																																																																			DRAXIN	-	NULL	ENSG00000162490		0.658	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRAXIN	HGNC	protein_coding	OTTHUMT00000006325.1	-	0	72|71	0	C|T	NM_198545		11766385|11766386	1	tier1	-	no_errors	ENST00000294485	ensembl	human	known	74_37	missense	9.09	90	9	SNP	0.003|0.000	A	AA	11766386	CT	AA	11766385	3	1	133	1	0	0	0	0	1	0	0	0	2028	680	24	3	72	3	C1orf187	1	11766385	Missense_Mutation	DNP	CT	TCGA-LN-A9FP-01A-31D-A387-09	190280	11766385	237484236	5	33927											
MFN2	9927	genome.wustl.edu	37	chr1	12056304	12056304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccaccaattgcttcctgCgggtagagggcacagatggc	10	7	12	12	1	0	2	0	0	0	2	1	2	1	2	3	3	2	3	3	3	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:12056304C>T	ENST00000235329.5	+	5	725	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	MFN2_ENST00000444836.1_Missense_Mutation_p.R135W	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	135	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)		TTGCTTCCTGCGGGTAGAGGG	0.577																																																	0													130	113	119					1																	12056304		2203	4300	6503	SO:0001583	missense	0			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.403C>T	1.37:g.12056304C>T	ENSP00000235329:p.Arg135Trp		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.R135W	ENST00000235329.5	37	c.403	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645436	0.87859	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	D;D	0.96940	-4.18;-4.18	5.63	5.63	0.86233	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.96731	0.9539	10	0.46703	T	0.11	-31.582	19.0418	0.93002	0.0:1.0:0.0:0.0	.	135	O95140	MFN2_HUMAN	W	135	ENSP00000416338:R135W;ENSP00000235329:R135W	ENSP00000235329:R135W	R	+	1	2	MFN2	11978891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.595000	0.61048	2.808000	0.96608	0.655000	0.94253	CGG	MFN2	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000116688		0.577	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	-	0	46	0	C	NM_014874		12056304	1	tier1	-	no_errors	ENST00000235329	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	12056304	C	T	12056304	3	4	133	1	0	0	0	0	1	0	0	0	9562	759	27	1	413	1	MFN2	1	12056304	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	289919	12056304	237194317	6	33928											
PRAMEF12	390999	genome.wustl.edu	37	chr1	12835017	12835017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagattcatcaggatgagcCtccaggccccacctagactc	10	8	8	15	0	2	3	2	1	0	2	4	4	3	4	5	2	1	0	5	2	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:12835017C>A	ENST00000357726.4	+	1	34	c.7C>A	c.(7-9)Ctc>Atc	p.L3I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	3					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)		CAGGATGAGCCTCCAGGCCCC	0.542																																																	0													42	49	47					1																	12835017		2192	4298	6490	SO:0001583	missense	0				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.7C>A	1.37:g.12835017C>A	ENSP00000350358:p.Leu3Ile			Missense_Mutation	SNP	NULL	p.L3I	ENST00000357726.4	37	c.7	CCDS41254.1	1	.	.	.	.	.	.	.	.	.	.	.	0.028	-1.353826	0.01256	.	.	ENSG00000116726	ENST00000357726	T	0.04809	3.55	2.68	-5.36	0.02689	.	3.958300	0.00877	N	0.002094	T	0.01976	0.0062	N	0.04636	-0.2	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40887	-0.9539	10	0.14252	T	0.57	.	2.2329	0.04001	0.2251:0.4666:0.1474:0.1609	.	3	O95522	PRA12_HUMAN	I	3	ENSP00000350358:L3I	ENSP00000350358:L3I	L	+	1	0	PRAMEF12	12757604	0.000000	0.05858	0.002000	0.10522	0.222000	0.24845	-6.659000	0.00058	-1.123000	0.02940	0.195000	0.17529	CTC	PRAMEF12	-	NULL	ENSG00000116726		0.542	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF12	HGNC	protein_coding	OTTHUMT00000005457.1	-	0	102	0	C	XM_372760		12835017	1	tier1	-	no_errors	ENST00000357726	ensembl	human	known	74_37	missense	11.02	105	13	SNP	0.001	A	A	12835017	C	A	12835017	3	1	133	1	0	0	0	0	1	0	0	0	12470	681	24	3	9	3	PRAMEF12	1	12835017	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	778713	12835017	236415604	7	33929											
HSPB7	27129	genome.wustl.edu	37	chr1	16344400	16344400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtggaagaggaggaggaaGaggaagaggaatggaaactt	17	4	19	1	0	0	3	0	0	0	3	0	10	0	10	0	8	1	0	0	8	5	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:16344400G>A	ENST00000311890.9	-	1	885	c.59C>T	c.(58-60)tCt>tTt	p.S20F	HSPB7_ENST00000406363.2_Missense_Mutation_p.S20F|HSPB7_ENST00000411503.1_Missense_Mutation_p.S20F|HSPB7_ENST00000375718.4_Intron|HSPB7_ENST00000545268.1_Missense_Mutation_p.S20F|HSPB7_ENST00000487046.1_Missense_Mutation_p.S20F	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	20	Poly-Ser.|Required for localization to SC35 splicing speckles.				regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ggaggaggaagaggaagagga	0.652																																																	0													45	44	44					1																	16344400		2203	4300	6503	SO:0001583	missense	0			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"Heat shock proteins / HSPB"	5249	protein-coding gene	gene with protein product		610692	"heat shock 27kD protein family, member 7 (cardiovascular)"			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.59C>T	1.37:g.16344400G>A	ENSP00000310111:p.Ser20Phe		B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.S20F	ENST00000311890.9	37	c.59	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669498	0.47677	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375714;ENST00000487046;ENST00000406363;ENST00000545268	D;D;D;D	0.95412	-3.02;-3.02;-3.7;-3.05	3.3	3.3	0.37823	.	0.000000	0.36482	N	0.002576	D	0.90225	0.6944	N	0.24115	0.695	0.22819	N	0.998694	P;P;P;B	0.48911	0.917;0.917;0.917;0.172	P;P;P;B	0.46049	0.502;0.502;0.502;0.248	T	0.82317	-0.0517	10	0.09843	T	0.71	-5.5267	11.0613	0.47948	0.0:0.1908:0.8092:0.0	.	46;46;108;20	Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;HSPB7_HUMAN	F	20;20;108;20;20;20	ENSP00000391578:S20F;ENSP00000310111:S20F;ENSP00000419477:S20F;ENSP00000385472:S20F	ENSP00000310111:S20F	S	-	2	0	HSPB7	16216987	0.868000	0.29978	0.618000	0.29105	0.713000	0.41058	4.556000	0.60775	2.145000	0.66743	0.407000	0.27541	TCT	HSPB7	-	NULL	ENSG00000173641		0.652	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	HGNC	protein_coding	OTTHUMT00000026334.2	-	0	52	0	G	NM_014424		16344400	-1	tier1	-	no_errors	ENST00000487046	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.317	A	A	16344400	G	A	16344400	3	1	133	1	0	0	0	0	1	0	0	0	7449	942	33	3	465	3	HSPB7	1	16344400	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3509383	16344400	232906221	8	33930											
CLCNKA	1187	genome.wustl.edu	37	chr1	16357020	16357020	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgctggcctttgagctGaccggccagatagtgcatgc	6	9	14	12	2	0	3	0	2	0	1	0	3	0	3	3	2	4	4	3	2	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:16357020G>T	ENST00000331433.4	+	15	1492	c.1473G>T	c.(1471-1473)ctG>ctT	p.L491L	CLCNKA_ENST00000439316.2_Silent_p.L448L|CLCNKA_ENST00000375692.1_Silent_p.L491L|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.L491L			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	491					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCTTTGAGCTGACCGGCCAGA	0.647																																																	0													57	51	53					1																	16357020		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1473G>T	1.37:g.16357020G>T			B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.L491	ENST00000331433.4	37	c.1473	CCDS167.1	1																																																																																			CLCNKA	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000186510		0.647	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	-	0	99	0	G			16357020	1	tier1	-	no_errors	ENST00000331433	ensembl	human	known	74_37	silent	5.68	83	5	SNP	1.000	T	T	16357020	G	T	16357020	2	4	133	1	0	0	0	0	0	0	0	1	3476	1277	45	3		3	CLCNKA	1	16357020	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	12620	16357020	232893601	9	33931											
ZBTB40	9923	genome.wustl.edu	37	chr1	22839481	22839481	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctcctgtgaagagtgtggGgcgaagtttgcagccaattc	8	12	13	8	1	1	2	0	1	1	1	3	3	1	2	2	2	2	2	2	2	3	3	rs200947242		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:22839481G>T	ENST00000375647.4	+	12	2733	c.2526G>T	c.(2524-2526)ggG>ggT	p.G842G	ZBTB40_ENST00000404138.1_Silent_p.G842G|ZBTB40_ENST00000374651.4_Silent_p.G730G	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	842					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)		AAGAGTGTGGGGCGAAGTTTG	0.557																																																	0													120	90	100					1																	22839481		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2526G>T	1.37:g.22839481G>T			O75066|Q5TFU5|Q8N1R1	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G842	ENST00000375647.4	37	c.2526	CCDS224.1	1																																																																																			ZBTB40	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184677		0.557	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	-	0	53	0	G	NM_014870		22839481	1	tier1	-	no_errors	ENST00000375647	ensembl	human	known	74_37	silent	8.33	66	6	SNP	0.241	T	T	22839481	G	T	22839481	2	4	133	1	0	0	0	0	0	0	0	1	17590	1219	43	3		3	ZBTB40	1	22839481	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	6482461	22839481	226411140	10	33932											
XKR8	55113	genome.wustl.edu	37	chr1	28293102	28293102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgcctcccctccaagccGctcctgggcctgggctcctc	3	8	9	21	1	0	0	0	0	0	0	5	0	4	0	9	2	2	2	9	2	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:28293102G>A	ENST00000373884.5	+	3	1187	c.579G>A	c.(577-579)ccG>ccA	p.P193P	XKR8_ENST00000481387.1_3'UTR	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	193					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)		CCTCCAAGCCGCTCCTGGGCC	0.642																																																	0													75	77	76					1																	28293102		2203	4300	6503	SO:0001819	synonymous_variant	0			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.579G>A	1.37:g.28293102G>A				Silent	SNP	pfam_Transport_prot_XK	p.P193	ENST00000373884.5	37	c.579	CCDS315.1	1																																																																																			XKR8	-	pfam_Transport_prot_XK	ENSG00000158156		0.642	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR8	HGNC	protein_coding	OTTHUMT00000011175.1	-	0	68	0	G	NM_018053		28293102	1	tier1	-	no_errors	ENST00000373884	ensembl	human	known	74_37	silent	7.79	71	6	SNP	0.000	A	A	28293102	G	A	28293102	2	1	133	1	0	0	0	0	0	0	0	1	17486	1074	38	1		1	XKR8	1	28293102	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5453621	28293102	220957519	11	33933											
CDCA8	55143	genome.wustl.edu	37	chr1	38166128	38166128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaaaggtaatacaggtaGatgaaatgatagtggaagag	18	7	13	3	1	0	4	0	2	0	2	0	6	0	5	0	3	1	2	0	3	7	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:38166128G>T	ENST00000373055.1	+	5	631	c.358G>T	c.(358-360)Gat>Tat	p.D120Y	CDCA8_ENST00000327331.2_Missense_Mutation_p.D120Y	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	120	Required for interaction with SENP3.				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)				AATACAGGTAGATGAAATGAT	0.368																																																	0													121	118	119					1																	38166128		2203	4300	6503	SO:0001583	missense	0			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.358G>T	1.37:g.38166128G>T	ENSP00000362146:p.Asp120Tyr		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	pfam_Cell_div_borealin,pfam_Borealin-like_N	p.D120Y	ENST00000373055.1	37	c.358	CCDS424.1	1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234298	0.22626	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.48522	0.81;0.81	4.25	3.33	0.38152	.	0.641517	0.15236	N	0.273162	T	0.36276	0.0961	L	0.44542	1.39	0.28748	N	0.901609	B	0.33379	0.41	B	0.28784	0.094	T	0.33854	-0.9852	10	0.59425	D	0.04	-0.2724	8.2834	0.31913	0.1098:0.0:0.8902:0.0	.	120	Q53HL2	BOREA_HUMAN	Y	120	ENSP00000362146:D120Y;ENSP00000316121:D120Y	ENSP00000316121:D120Y	D	+	1	0	CDCA8	37938715	1.000000	0.71417	0.994000	0.49952	0.406000	0.30931	2.647000	0.46639	1.133000	0.42147	-0.157000	0.13467	GAT	CDCA8	-	NULL	ENSG00000134690		0.368	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA8	HGNC	protein_coding	OTTHUMT00000012473.1	-	0	66	0	G	NM_018101		38166128	1	tier1	-	no_errors	ENST00000327331	ensembl	human	known	74_37	missense	17.07	66	14	SNP	0.998	T	T	38166128	G	T	38166128	3	4	133	1	0	0	0	0	1	0	0	0	3099	942	33	3	376	3	CDCA8	1	38166128	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	9873026	38166128	211084493	12	33934											
MACF1	23499	genome.wustl.edu	37	chr1	39823254	39823254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgcagacacttcaggatGagttgcagaaatttctgcag	12	10	12	7	0	2	3	1	1	1	2	2	4	2	4	0	2	3	4	0	2	1	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:39823254G>A	ENST00000372915.3	+	44	11734	c.11647G>A	c.(11647-11649)Gag>Aag	p.E3883K	MACF1_ENST00000564288.1_Missense_Mutation_p.E3878K|MACF1_ENST00000545844.1_Missense_Mutation_p.E1816K|MACF1_ENST00000289893.4_Missense_Mutation_p.E2318K|MACF1_ENST00000567887.1_Missense_Mutation_p.E3915K|MACF1_ENST00000539005.1_Missense_Mutation_p.E1816K|MACF1_ENST00000317713.7_Missense_Mutation_p.E1816K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.E1816K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3883					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)			ACTTCAGGATGAGTTGCAGAA	0.493																																																	0													66	67	67					1																	39823254		2203	4300	6503	SO:0001583	missense	0			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.11647G>A	1.37:g.39823254G>A	ENSP00000362006:p.Glu3883Lys		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.E1816K	ENST00000372915.3	37	c.5446		1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559260	0.86335	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000011	T	0.66107	0.2756	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.978;0.994	T	0.67256	-0.5716	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	3883;1816;1816;1781	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	K	1816;3883;1816;1816;1816;1965;2318	ENSP00000439537:E1816K;ENSP00000362006:E3883K;ENSP00000354573:E1816K;ENSP00000313438:E1816K;ENSP00000444364:E1816K;ENSP00000437059:E1965K;ENSP00000289893:E2318K	ENSP00000289893:E2318K	E	+	1	0	MACF1	39595841	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.501000	0.81600	2.884000	0.98904	0.655000	0.94253	GAG	MACF1	-	pfam_Spectrin_repeat	ENSG00000127603		0.493	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	61	0	G	NM_033044		39823254	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	6.73	97	7	SNP	1.000	A	A	39823254	G	A	39823254	3	1	133	1	0	0	0	0	1	0	0	0	9180	1291	45	3	11755	3	MACF1	1	39823254	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1657126	39823254	209427367	13	33935											
OXCT2	64064	genome.wustl.edu	37	chr1	40236196	40236196	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccacgatctcttccacCtccaccgccgtgacgtctgc	6	9	6	20	4	2	1	0	1	2	0	6	2	5	1	7	0	1	0	7	0	0	1	rs374640877		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:40236196C>T	ENST00000327582.5	-	1	824	c.732G>A	c.(730-732)gaG>gaA	p.E244E	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	244					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TCTCTTCCACCTCCACCGCCG	0.557											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	,	1,4385	2.1+/-5.4	0,1,2192	56	66	62		,732	0.6	0.8	1		62	0,8590		0,0,4295	no	intron,coding-synonymous	BMP8B,OXCT2	NM_001720.3,NM_022120.1	,	0,1,6487	TT,TC,CC		0.0,0.0228,0.0077	,	,244/518	40236196	1,12975	2193	4295	6488	SO:0001819	synonymous_variant	0			AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.732G>A	1.37:g.40236196C>T		891	B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Silent	SNP	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.E244	ENST00000327582.5	37	c.732	CCDS445.1	1																																																																																			OXCT2	-	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase	ENSG00000198754		0.557	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT2	HGNC	protein_coding	OTTHUMT00000025656.1	-	0	38	0	C	NM_022120		40236196	-1	tier1	-	no_errors	ENST00000327582	ensembl	human	known	74_37	silent	12.70	55	8	SNP	1.000	T	T	40236196	C	T	40236196	2	4	133	1	0	0	0	0	0	0	0	1	11369	680	24	3		3	OXCT2	1	40236196	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	412942	40236196	209014425	14	33936											
AKR1A1	10327	genome.wustl.edu	37	chr1	46033797	46033797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccaacttcaacagtcGgcagattgatgacatactca	12	10	7	12	1	2	3	2	2	0	1	4	3	3	3	2	1	3	1	2	1	3	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:46033797G>T	ENST00000372070.3	+	6	1247	c.500G>T	c.(499-501)cGg>cTg	p.R167L	AKR1A1_ENST00000351829.4_Missense_Mutation_p.R167L|AKR1A1_ENST00000473038.1_3'UTR	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)	167					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)	TTCAACAGTCGGCAGATTGAT	0.567																																																	0													92	77	82					1																	46033797		2203	4300	6503	SO:0001583	missense	0			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.500G>T	1.37:g.46033797G>T	ENSP00000361140:p.Arg167Leu		A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.R167L	ENST00000372070.3	37	c.500	CCDS523.1	1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741362	0.49151	.	.	ENSG00000117448	ENST00000372070;ENST00000351829	T;T	0.24723	1.84;1.84	5.75	2.79	0.32731	NADP-dependent oxidoreductase domain (3);	0.167749	0.48286	N	0.000192	T	0.18087	0.0434	L	0.37897	1.145	0.58432	D	0.999994	B	0.06786	0.001	B	0.14023	0.01	T	0.05468	-1.0883	10	0.30078	T	0.28	.	8.4496	0.32862	0.1326:0.0:0.7412:0.1262	.	167	P14550	AK1A1_HUMAN	L	167	ENSP00000361140:R167L;ENSP00000312606:R167L	ENSP00000312606:R167L	R	+	2	0	AKR1A1	45806384	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.681000	0.68175	0.800000	0.34041	0.650000	0.86243	CGG	AKR1A1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000117448		0.567	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1A1	HGNC	protein_coding	OTTHUMT00000020851.1	-	0	48	0	G	NM_006066		46033797	1	tier1	-	no_errors	ENST00000351829	ensembl	human	known	74_37	missense	13.24	59	9	SNP	1.000	T	T	46033797	G	T	46033797	3	4	133	1	0	0	0	0	1	0	0	0	465	1116	39	2	514	2	AKR1A1	1	46033797	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5797601	46033797	203216824	15	33937											
DMBX1	127343	genome.wustl.edu	37	chr1	46978148	46978148	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcggcctccctgggactCgatacgctgcccaactgact	7	7	10	17	4	0	1	0	1	0	0	2	3	1	2	3	2	3	1	3	2	2	1	rs142368793		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:46978148C>A	ENST00000360032.3	+	4	1130	c.1116C>A	c.(1114-1116)ctC>ctA	p.L372L	DMBX1_ENST00000371956.4_Silent_p.L377L	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCCTGGGACTCGATACGCTGC	0.612																																																	0													45	48	47					1																	46978148		2203	4299	6502	SO:0001819	synonymous_variant	0			AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.1116C>A	1.37:g.46978148C>A				Silent	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.L377	ENST00000360032.3	37	c.1131	CCDS536.1	1																																																																																			DMBX1	-	NULL	ENSG00000197587		0.612	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DMBX1	HGNC	protein_coding	OTTHUMT00000021895.1	-	0	54	0	C			46978148	1	tier1	-	no_errors	ENST00000371956	ensembl	human	known	74_37	silent	11.84	67	9	SNP	0.610	A	A	46978148	C	A	46978148	2	1	133	1	0	0	0	0	0	0	0	1	4592	871	31	2		2	DMBX1	1	46978148	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	944351	46978148	202272473	16	33938											
ELAVL4	1996	genome.wustl.edu	37	chr1	50661318	50661318	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgaatggccagaagccCagcggtgctacggaaccgat	10	5	15	11	3	0	2	0	1	0	1	0	4	0	3	3	4	5	2	3	4	4	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:50661318C>T	ENST00000371823.4	+	5	818	c.594C>T	c.(592-594)ccC>ccT	p.P198P	ELAVL4_ENST00000448907.2_Silent_p.P201P|ELAVL4_ENST00000371819.1_Silent_p.P203P|ELAVL4_ENST00000371824.1_Silent_p.P198P|ELAVL4_ENST00000357083.4_Silent_p.P215P|ELAVL4_ENST00000371821.1_Silent_p.P203P|ELAVL4_ENST00000371827.1_Silent_p.P198P	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	198	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						GCCAGAAGCCCAGCGGTGCTA	0.567																																																	0													111	113	112					1																	50661318		2203	4300	6503	SO:0001819	synonymous_variant	0			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.594C>T	1.37:g.50661318C>T			B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.P203	ENST00000371823.4	37	c.609	CCDS553.1	1																																																																																			ELAVL4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	ENSG00000162374		0.567	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	ELAVL4	HGNC	protein_coding	OTTHUMT00000021712.1	-	0	88	0	C	NM_021952		50661318	1	tier1	-	no_errors	ENST00000371821	ensembl	human	known	74_37	silent	9.02	111	11	SNP	0.993	T	T	50661318	C	T	50661318	2	4	133	1	0	0	0	0	0	0	0	1	5068	581	21	3		3	ELAVL4	1	50661318	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3683170	50661318	198589303	17	33939											
ZCCHC11	23318	genome.wustl.edu	37	chr1	52956462	52956462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaatcagattccacatCtacatataatactaataagg	18	11	5	7	0	2	2	1	1	1	1	3	2	3	2	1	1	2	0	1	1	8	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:52956462C>A	ENST00000371544.3	-	8	1592	c.1330G>T	c.(1330-1332)Gat>Tat	p.D444Y	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D444Y	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	444					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GATTCCACATCTACATATAAT	0.308																																																	0													46	48	47					1																	52956462		2203	4299	6502	SO:0001583	missense	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1330G>T	1.37:g.52956462C>A	ENSP00000360599:p.Asp444Tyr		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.D444Y	ENST00000371544.3	37	c.1330	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011457	0.75046	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	6.08	6.08	0.98989	.	0.153838	0.56097	D	0.000026	T	0.58061	0.2096	L	0.45352	1.415	0.80722	D	1	D;P;D	0.76494	0.999;0.859;0.999	P;P;D	0.63033	0.903;0.492;0.91	T	0.55982	-0.8054	10	0.72032	D	0.01	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	203;444;444	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	Y	444;444;444;203	ENSP00000257177:D444Y;ENSP00000360599:D444Y;ENSP00000433486:D444Y;ENSP00000435256:D203Y	ENSP00000257177:D444Y	D	-	1	0	ZCCHC11	52729050	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.677000	0.74503	2.894000	0.99253	0.655000	0.94253	GAT	ZCCHC11	-	NULL	ENSG00000134744		0.308	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	-	0	79	0	C	XM_038288		52956462	-1	tier1	-	no_errors	ENST00000257177	ensembl	human	known	74_37	missense	9.90	91	10	SNP	1.000	A	A	52956462	C	A	52956462	3	1	133	1	0	0	0	0	1	0	0	0	17628	913	32	3	3699	3	ZCCHC11	1	52956462	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2295144	52956462	196294159	18	33940											
C1orf175	374977	genome.wustl.edu	37	chr1	55145629	55145629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagcctcgggcccgccaGgtggccctgctgcccgtctc	3	6	14	18	3	1	0	0	0	1	0	3	1	1	1	5	4	3	1	5	4	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:55145629G>T	ENST00000421030.2	+	13	2577	c.2292G>T	c.(2290-2292)caG>caT	p.Q764H	MROH7_ENST00000339553.5_Missense_Mutation_p.Q764H|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.Q764H|MROH7_ENST00000395690.2_Missense_Mutation_p.Q764H|MROH7_ENST00000454855.2_Missense_Mutation_p.Q282H|MROH7_ENST00000409996.1_Missense_Mutation_p.Q332H|MROH7_ENST00000545244.1_Missense_Mutation_p.Q332H	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	764						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GGGCCCGCCAGGTGGCCCTGC	0.632																																																	0													104	118	113					1																	55145629		2018	4157	6175	SO:0001583	missense	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2292G>T	1.37:g.55145629G>T	ENSP00000396622:p.Gln764His		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q764H	ENST00000421030.2	37	c.2292	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.760056	0.31137	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	3.75	0.446	0.16602	.	0.336809	0.20719	N	0.086953	T	0.26593	0.0650	N	0.17474	0.49	0.09310	N	0.999991	P;P;P	0.41569	0.681;0.755;0.474	P;B;B	0.45138	0.471;0.26;0.232	T	0.09228	-1.0684	10	0.48119	T	0.1	-13.0623	4.9771	0.14146	0.4792:0.0:0.5208:0.0	.	764;764;332	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	H	764;332;793;764;332;282;764	ENSP00000396622:Q764H;ENSP00000442333:Q332H;ENSP00000343211:Q764H;ENSP00000387048:Q332H;ENSP00000401130:Q282H;ENSP00000379044:Q764H	ENSP00000343211:Q764H	Q	+	3	2	HEATR8	54918217	1.000000	0.71417	0.787000	0.31911	0.925000	0.55904	0.958000	0.29227	0.253000	0.21552	0.455000	0.32223	CAG	MROH7-TTC4	-	superfamily_ARM-type_fold	ENSG00000271723		0.632	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1	-	0	69	0	G	NM_198547		55145629	1	tier1	-	no_errors	ENST00000414150	ensembl	human	known	74_37	missense	8.22	67	6	SNP	0.783	T	T	55145629	G	T	55145629	3	4	133	1	0	0	0	0	1	0	0	0	2023	991	35	3	2334	3	C1orf175	1	55145629	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2189167	55145629	194104992	19	33941											
PPAP2B	8613	genome.wustl.edu	37	chr1	56977762	56977762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccatcatgatcaaggtGaactgcaggaggggccggag	12	5	16	8	1	2	2	2	2	0	0	2	4	2	4	2	6	2	1	2	6	3	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:56977762G>T	ENST00000371250.3	-	5	1247	c.696C>A	c.(694-696)ttC>ttA	p.F232L	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	232					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						TGATCAAGGTGAACTGCAGGA	0.557																																																	0													68	65	66					1																	56977762		2203	4300	6503	SO:0001583	missense	0			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.696C>A	1.37:g.56977762G>T	ENSP00000360296:p.Phe232Leu		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.F232L	ENST00000371250.3	37	c.696	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.441486	0.96187	.	.	ENSG00000162407	ENST00000371250	T	0.72942	-0.7	6.04	6.04	0.98038	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.045787	0.85682	N	0.000000	T	0.78710	0.4326	L	0.41906	1.305	0.80722	D	1	P	0.40376	0.715	P	0.57548	0.823	T	0.74532	-0.3634	10	0.40728	T	0.16	.	19.583	0.95478	0.0:0.0:1.0:0.0	.	232	O14495	LPP3_HUMAN	L	232	ENSP00000360296:F232L	ENSP00000360296:F232L	F	-	3	2	PPAP2B	56750350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.494000	0.60347	2.873000	0.98535	0.563000	0.77884	TTC	PPAP2B	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000162407		0.557	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2	-	0	58	0	G	NM_003713		56977762	-1	tier1	-	no_errors	ENST00000371250	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	56977762	G	T	56977762	3	4	133	1	0	0	0	0	1	0	0	0	12330	1281	45	3	247	3	PPAP2B	1	56977762	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1832133	56977762	192272859	20	33942											
SLC44A5	204962	genome.wustl.edu	37	chr1	75708676	75708677	+	Missense_Mutation	DNP	TG	TG	CT																															acataggttaaaaatttttcTgggcacttggagacacagat																										TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:75708676_75708677TG>CT	ENST00000370855.5	-	8	478_479	c.365_366CA>AG	c.(364-366)cCA>cAG	p.P122Q	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P122Q	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	122					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						AAAATTTTTCTGGGCACTTGGA	0.396																																																	0																																										SO:0001583	missense	0			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.365_366delinsCT	1.37:g.75708676_75708677delinsCT	ENSP00000359892:p.Pro122Gln		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent|Missense_Mutation	SNP	pfam_Choline_transptr-like	p.P122|p.P122Q	ENST00000370855.5	37	c.366|c.365	CCDS667.1	1																																																																																			SLC44A5	-	NULL	ENSG00000137968		0.396	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1		0	43	0	T|G	NM_152697		75708676|75708677	-1			no_errors	ENST00000370855	ensembl	human	known	74_37	silent|missense	5.77|6.00	49|47	3	SNP	1.000	C|T	CT	75708677	TG	CT	75708676	3	2	133	1	0	0	0	0	1	0	0	0	14684	1567	55	4	1972	4	SLC44A5	1	75708676	Missense_Mutation	DNP	TG	TCGA-LN-A9FP-01A-31D-A387-09	18730914	75708676	173541945	21	33943											
LMO4	8543	genome.wustl.edu	37	chr1	87805312	87805312	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggcaatgtgtatcatctTaaggtagtatttgcatctct	11	15	8	7	0	3	0	1	0	2	0	4	0	3	0	0	2	1	5	0	2	6	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:87805312T>A	ENST00000370544.5	+	3	1110	c.330T>A	c.(328-330)ctT>ctA	p.L110L	LMO4_ENST00000370542.1_Silent_p.L110L|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	110	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		TGTATCATCTTAAGGTAGTAT	0.418																																																	0													76	76	76					1																	87805312		2203	4300	6503	SO:0001819	synonymous_variant	0			U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.330T>A	1.37:g.87805312T>A			D3DT23|O00158|O88894	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L110	ENST00000370544.5	37	c.330	CCDS713.1	1																																																																																			LMO4	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000143013		0.418	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO4	HGNC	protein_coding	OTTHUMT00000028264.2	-	0	60	0	T	NM_006769		87805312	1	tier1	-	no_errors	ENST00000370542	ensembl	human	known	74_37	silent	7.46	62	5	SNP	0.990	A	A	87805312	T	A	87805312	2	1	133	1	0	0	0	0	0	0	0	1	8884	1741	61	5		5	LMO4	1	87805312	Silent	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	12096636	87805312	161445309	22	33944											
DRAM2	128338	genome.wustl.edu	37	chr1	111674115	111674115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatgaaaatatgaaagcaGcagatgtccaaattacaagg	18	9	9	5	0	0	3	0	2	0	1	1	3	1	3	1	1	3	3	1	1	8	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:111674115G>A	ENST00000286692.4	-	3	679	c.62C>T	c.(61-63)gCt>gTt	p.A21V	DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Missense_Mutation_p.A21V			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	21					apoptotic process (GO:0006915)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|microtubule cytoskeleton (GO:0015630)				endometrium(1)|large_intestine(5)|lung(3)	9						TATGAAAGCAGCAGATGTCCA	0.378																																																	0													135	136	136					1																	111674115		2203	4300	6503	SO:0001583	missense	0			AY336747	CCDS30801.1	1p13.3	2010-07-08	2009-06-12	2009-06-12	ENSG00000156171	ENSG00000156171			28769	protein-coding gene	gene with protein product		613360	"transmembrane protein 77"	TMEM77		12975309	Standard	NM_178454		Approved	MGC54289, PRO180, WWFQ154, RP5-1180E21.1	uc001ead.4	Q6UX65	OTTHUMG00000011911	ENST00000286692.4:c.62C>T	1.37:g.111674115G>A	ENSP00000286692:p.Ala21Val		B3SUG9|Q4VWF6|Q86VD3|Q8NBQ4	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.A21V	ENST00000286692.4	37	c.62	CCDS30801.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938283	0.92526	.	.	ENSG00000156171	ENST00000286692;ENST00000539140	T;T	0.42513	0.97;0.97	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	L	0.44542	1.39	0.53005	D	0.999967	D	0.67145	0.996	D	0.65443	0.935	T	0.45804	-0.9236	10	0.72032	D	0.01	-2.1023	15.5529	0.76167	0.0:0.0:1.0:0.0	.	21	Q6UX65	DRAM2_HUMAN	V	21	ENSP00000286692:A21V;ENSP00000437718:A21V	ENSP00000286692:A21V	A	-	2	0	DRAM2	111475638	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	7.422000	0.80217	2.816000	0.96949	0.561000	0.74099	GCT	DRAM2	-	pfam_Frag1/DRAM/Sfk1	ENSG00000156171		0.378	DRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRAM2	HGNC	protein_coding	OTTHUMT00000032930.3	-	0	60	0	G	NM_178454		111674115	-1	tier1	-	no_errors	ENST00000286692	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A	A	111674115	G	A	111674115	3	1	133	1	0	0	0	0	1	0	0	0	4768	971	34	3	766	3	DRAM2	1	111674115	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	23868803	111674115	137576506	23	33945											
HSD3B2	3284	genome.wustl.edu	37	chr1	119964835	119964835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccacattctggccttgagGgctctgcgggaccccaagaa	8	7	12	14	1	2	2	0	1	2	1	2	3	2	3	4	3	1	1	4	3	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:119964835G>T	ENST00000543831.1	+	4	960	c.711G>T	c.(709-711)agG>agT	p.R237S	HSD3B2_ENST00000369416.3_Missense_Mutation_p.R237S	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	237			Missing (in AH2; activity abolished).		androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TGGCCTTGAGGGCTCTGCGGG	0.507																																																	0													48	52	50					1																	119964835		2203	4300	6503	SO:0001583	missense	0			BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.711G>T	1.37:g.119964835G>T	ENSP00000445122:p.Arg237Ser		A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR	p.R237S	ENST00000543831.1	37	c.711	CCDS902.1	1	.	.	.	.	.	.	.	.	.	.	-	16.06	3.015842	0.54468	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	D;D	0.86030	-2.06;-2.06	3.98	0.451	0.16629	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.106561	0.64402	D	0.000007	D	0.86973	0.6062	M	0.86178	2.8	0.38463	D	0.947263	D	0.60575	0.988	P	0.62560	0.904	D	0.85672	0.1295	9	.	.	.	-16.1968	8.0279	0.30448	0.4125:0.0:0.5875:0.0	.	237	P26439	3BHS2_HUMAN	S	237	ENSP00000445122:R237S;ENSP00000358424:R237S	.	R	+	3	2	HSD3B2	119766358	0.998000	0.40836	0.621000	0.29145	0.826000	0.46750	0.526000	0.22971	0.195000	0.20347	0.298000	0.19748	AGG	HSD3B2	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct	ENSG00000203859		0.507	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B2	HGNC	protein_coding	OTTHUMT00000034994.1	-	0	85	0	G	NM_000198		119964835	1	tier1	-	no_errors	ENST00000369416	ensembl	human	known	74_37	missense	13.21	91	14	SNP	0.894	T	T	119964835	G	T	119964835	3	4	133	1	0	0	0	0	1	0	0	0	7418	1223	43	3	721	3	HSD3B2	1	119964835	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	8290720	119964835	129285786	24	33946											
ITGA10	8515	genome.wustl.edu	37	chr1	145533913	145533913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accccagaacaaggaaacagGacgtgtttatgtgtatctgg	13	9	11	8	1	1	1	0	0	1	1	1	3	1	3	2	3	2	2	2	3	5	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:145533913G>T	ENST00000369304.3	+	13	1734	c.1559G>T	c.(1558-1560)gGa>gTa	p.G520V	ITGA10_ENST00000539363.1_Missense_Mutation_p.G377V|ITGA10_ENST00000538811.1_Missense_Mutation_p.G389V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	520					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)					AAGGAAACAGGACGTGTTTAT	0.557																																																	0													94	86	89					1																	145533913		2203	4300	6503	SO:0001583	missense	0			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.1559G>T	1.37:g.145533913G>T	ENSP00000358310:p.Gly520Val		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G520V	ENST00000369304.3	37	c.1559	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810164	0.70797	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.56275	0.47;0.47;0.47	5.27	4.34	0.51931	.	0.149633	0.43579	D	0.000548	T	0.76321	0.3971	H	0.97158	3.95	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.91635	0.967;0.994;0.999;0.927	D	0.84447	0.0586	10	0.87932	D	0	.	12.8633	0.57926	0.0:0.0:0.8355:0.1645	.	486;389;377;520	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	V	520;486;377;389	ENSP00000358310:G520V;ENSP00000439894:G377V;ENSP00000440011:G389V	ENSP00000358310:G520V	G	+	2	0	ITGA10	144245270	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	9.577000	0.98196	1.193000	0.43086	0.655000	0.94253	GGA	ITGA10	-	smart_Int_alpha_beta-p	ENSG00000143127		0.557	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	-	0	84	0	G	NM_003637		145533913	1	tier1	-	no_errors	ENST00000369304	ensembl	human	known	74_37	missense	9.89	82	9	SNP	0.999	T	T	145533913	G	T	145533913	3	4	133	1	0	0	0	0	1	0	0	0	7900	1174	41	3	1609	3	ITGA10	1	145533913	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	25569078	145533913	103716708	25	33947											
HIST2H2AC	8338	genome.wustl.edu	37	chr1	149858798	149858798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctggccatccgcaacgacGaggaactgaacaagctgctg	12	5	12	12	3	0	1	0	1	0	0	1	4	1	2	2	2	6	4	2	2	4	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:149858798G>A	ENST00000331380.2	+	1	274	c.274G>A	c.(274-276)Gag>Aag	p.E92K	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	92						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGCAACGACGAGGAACTGAA	0.597																																																	0													68	69	68					1																	149858798		2203	4297	6500	SO:0001583	missense	0			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.274G>A	1.37:g.149858798G>A	ENSP00000332194:p.Glu92Lys		Q6DRA7|Q8IUE5	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E92K	ENST00000331380.2	37	c.274	CCDS937.1	1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878358	0.33162	.	.	ENSG00000184260	ENST00000331380	T	0.47528	0.84	5.34	3.44	0.39384	Histone-fold (2);Histone H2A (1);	0.000000	0.44902	D	0.000420	T	0.68183	0.2973	H	0.96748	3.875	0.38548	D	0.949392	D	0.63880	0.993	D	0.65684	0.937	T	0.76239	-0.3032	10	0.87932	D	0	.	9.7166	0.40278	0.0779:0.1416:0.7806:0.0	.	92	Q16777	H2A2C_HUMAN	K	92	ENSP00000332194:E92K	ENSP00000332194:E92K	E	+	1	0	HIST2H2AC	148125422	1.000000	0.71417	0.984000	0.44739	0.041000	0.13682	7.519000	0.81809	0.619000	0.30197	-0.136000	0.14681	GAG	HIST2H2AC	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000184260		0.597	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AC	HGNC	protein_coding	OTTHUMT00000087128.1	-	0	159	0	G	NM_003517		149858798	1	tier1	-	no_errors	ENST00000331380	ensembl	human	known	74_37	missense	8.04	181	16	SNP	1.000	A	A	149858798	G	A	149858798	3	1	133	1	0	0	0	0	1	0	0	0	7205	1059	37	1	276	1	HIST2H2AC	1	149858798	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	4324885	149858798	99391823	26	33948											
CELF3	11189	genome.wustl.edu	37	chr1	151679697	151679697	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggtgggcaccgggctGtagccgttgacgcccagggc	4	6	19	12	3	0	1	0	1	0	0	0	1	0	1	3	5	1	5	3	5	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:151679697G>C	ENST00000290583.4	-	8	1639	c.846C>G	c.(844-846)taC>taG	p.Y282*	CELF3_ENST00000392706.3_Nonsense_Mutation_p.Y99*|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Intron	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	282					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)	p.Y282*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GCACCGGGCTGTAGCCGTTGA	0.672																																																	1	Substitution - Nonsense(1)	kidney(1)											24	23	24					1																	151679697		2178	4276	6454	SO:0001587	stop_gained	0			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.846C>G	1.37:g.151679697G>C	ENSP00000290583:p.Tyr282*		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y282*	ENST00000290583.4	37	c.846	CCDS1002.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	43|43	9.921316|9.921316	0.99295|0.99295	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290583;ENST00000392706	.|.	.|.	.|.	3.86|3.86	3.86|3.86	0.44501|0.44501	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.14399|.	0.0348|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.06789|.	-1.0807|.	3|.	.|0.09338	.|T	.|0.73	-4.7475|-4.7475	8.5218|8.5218	0.33279|0.33279	0.1086:0.0:0.8914:0.0|0.1086:0.0:0.8914:0.0	.|.	.|.	.|.	.|.	R|X	283|282;99	.|.	.|ENSP00000290583:Y282X	T|Y	-|-	2|3	0|2	CELF3|CELF3	149946321|149946321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.195000|6.195000	0.72088|0.72088	2.008000|2.008000	0.58898|0.58898	0.555000|0.555000	0.69702|0.69702	ACA|TAC	CELF3	-	NULL	ENSG00000159409		0.672	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF3	HGNC	protein_coding	OTTHUMT00000036663.2	-	0	36	0	G	NM_007185		151679697	-1	tier1	-	no_errors	ENST00000290583	ensembl	human	known	74_37	nonsense	14.52	53	9	SNP	1.000	C	C	151679697	G	C	151679697	4	2	133	1	0	0	0	0	0	1	0	0	3224	1372	48	5	571	5	CELF3	1	151679697	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1820899	151679697	97570924	27	33949											
LCE2C	353140	genome.wustl.edu	37	chr1	152648660	152648660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagctctgggagctgctgtGgtcccagctctgggggctgc	3	9	16	13	0	2	0	0	0	2	0	3	1	3	1	2	4	5	5	2	4	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:152648660G>A	ENST00000368783.1	+	2	224	c.169G>A	c.(169-171)Ggt>Agt	p.G57S	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	57	Cys-rich.				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)			GAGCTGCTGTGGTCCCAGCTC	0.657																																																	0													86	96	93					1																	152648660		2203	4300	6503	SO:0001583	missense	0				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.169G>A	1.37:g.152648660G>A	ENSP00000357772:p.Gly57Ser			Missense_Mutation	SNP	NULL	p.G57S	ENST00000368783.1	37	c.169	CCDS1019.1	1	.	.	.	.	.	.	.	.	.	.	G	2.181	-0.387485	0.04932	.	.	ENSG00000187180	ENST00000368783	T	0.03717	3.83	3.2	1.15	0.20763	.	.	.	.	.	T	0.01222	0.0040	L	0.39326	1.205	0.09310	N	1	B	0.21753	0.06	B	0.20767	0.031	T	0.45745	-0.9240	9	0.87932	D	0	.	6.0859	0.19966	0.2639:0.0:0.7361:0.0	.	57	Q5TA81	LCE2C_HUMAN	S	57	ENSP00000357772:G57S	ENSP00000357772:G57S	G	+	1	0	LCE2C	150915284	0.979000	0.34478	0.024000	0.17045	0.105000	0.19272	0.834000	0.27518	0.148000	0.19059	0.563000	0.77884	GGT	LCE2C	-	NULL	ENSG00000187180		0.657	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2C	HGNC	protein_coding	OTTHUMT00000034509.1	-	0	158	0	G	NM_178429		152648660	1	tier1	-	no_errors	ENST00000368783	ensembl	human	known	74_37	missense	14.35	177	30	SNP	0.062	A	A	152648660	G	A	152648660	3	1	133	1	0	0	0	0	1	0	0	0	8695	1348	47	3	171	3	LCE2C	1	152648660	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	968963	152648660	96601961	28	33950											
S100A4	6275	genome.wustl.edu	37	chr1	153516390	153516390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctggaaagcagcttcatCtgtccttttctggagggaga	8	13	11	9	0	4	1	1	0	3	1	5	4	5	3	1	3	2	2	1	3	1	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:153516390C>G	ENST00000368716.4	-	3	298	c.151G>C	c.(151-153)Gat>Cat	p.D51H	S100A4_ENST00000481009.1_5'UTR|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000368715.1_Missense_Mutation_p.D51H|S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000354332.4_Missense_Mutation_p.D51H|S100A4_ENST00000368714.1_Missense_Mutation_p.D51H	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	51	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)	GCAGCTTCATCTGTCCTTTTC	0.522																																																	0													187	170	176					1																	153516390		2203	4300	6503	SO:0001583	missense	0			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.151G>C	1.37:g.153516390C>G	ENSP00000357705:p.Asp51His		A8K7R8|D3DV46|Q6ICP8	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D51H	ENST00000368716.4	37	c.151	CCDS1042.1	1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053677	0.55218	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.75	4.75	0.60458	EF-hand-like domain (1);	0.053821	0.64402	D	0.000001	T	0.17408	0.0418	M	0.88704	2.975	0.53005	D	0.999961	B	0.13594	0.008	B	0.17098	0.017	T	0.09618	-1.0666	10	0.72032	D	0.01	.	13.2685	0.60148	0.0:1.0:0.0:0.0	.	51	P26447	S10A4_HUMAN	H	51;51;51;51;40	ENSP00000357704:D51H;ENSP00000346294:D51H;ENSP00000357705:D51H;ENSP00000357703:D51H	ENSP00000346294:D51H	D	-	1	0	S100A4	151783014	0.938000	0.31826	0.926000	0.36857	0.989000	0.77384	2.940000	0.49003	2.202000	0.70862	0.561000	0.74099	GAT	S100A4	-	pfscan_EF_hand_dom	ENSG00000196154		0.522	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A4	HGNC	protein_coding	OTTHUMT00000037714.1	-	0	78	0	C	NM_002961		153516390	-1	tier1	-	no_errors	ENST00000354332	ensembl	human	known	74_37	missense	17.02	77	16	SNP	0.995	G	G	153516390	C	G	153516390	3	3	133	1	0	0	0	0	1	0	0	0	13825	913	32	5	158	5	S100A4	1	153516390	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	867730	153516390	95734231	29	33951											
S100A3	6274	genome.wustl.edu	37	chr1	153520323	153520323	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacattcccgaaactcagtCtgtgcaagggaagggttggg	10	9	13	9	1	3	0	2	0	1	0	4	2	4	1	1	3	2	2	1	3	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:153520323C>T	ENST00000368713.3	-	3	338		c.e3-1		S100A3_ENST00000368712.1_Splice_Site|S100A4_ENST00000481009.1_5'Flank|S100A4_ENST00000368715.1_5'Flank|S100A4_ENST00000354332.4_5'Flank|S100A4_ENST00000368716.4_5'Flank|S100A4_ENST00000368714.1_Intron	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3							cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	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)			GAAACTCAGTCTGTGCAAGGG	0.547																																																	0													181	164	170					1																	153520323		2203	4300	6503	SO:0001630	splice_region_variant	0			BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"S100 calcium binding proteins"	10493	protein-coding gene	gene with protein product		176992	"S100 calcium-binding protein A3"	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.142-1G>A	1.37:g.153520323C>T			D3DV51|Q6FGE4	Splice_Site	SNP	-	e2-1	ENST00000368713.3	37	c.142-1	CCDS1043.1	1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634261	0.47049	.	.	ENSG00000188015	ENST00000368713;ENST00000368712	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5136	0.61528	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	S100A3	151786947	1.000000	0.71417	0.659000	0.29680	0.352000	0.29268	1.454000	0.35178	2.308000	0.77769	0.561000	0.74099	.	S100A3	-	-	ENSG00000188015		0.547	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A3	HGNC	protein_coding	OTTHUMT00000037726.1		0	57	0	C	NM_002960	Intron	153520323	-1			no_errors	ENST00000368712	ensembl	human	known	74_37	splice_site	14.58	41	7	SNP	0.759	T	T	153520323	C	T	153520323	5	4	133	1	0	0	0	0	0	0	1	0	13824	927	32	3	168	3	S100A3	1	153520323	Splice_Site	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3933	153520323	95730298	30	33952											
CCT3	7203	genome.wustl.edu	37	chr1	156279014	156279014	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctggccagcatcaggagcCccgccttgccggctctggtc	4	8	12	17	2	2	0	1	0	1	0	4	1	3	1	6	4	3	2	6	4	0	1	rs143692903		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:156279014C>A	ENST00000295688.3	-	14	1894	c.1614G>T	c.(1612-1614)ggG>ggT	p.G538G	CCT3_ENST00000368259.2_Silent_p.G500G|CCT3_ENST00000472765.2_Silent_p.G493G|CCT3_ENST00000368261.3_Silent_p.G493G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	538					'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)					CATCAGGAGCCCCGCCTTGCC	0.537																																																	0													109	117	114					1																	156279014		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1614G>T	1.37:g.156279014C>A			A6NE14|Q5SZY1|Q9BR64	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma	p.G538	ENST00000295688.3	37	c.1614	CCDS1140.2	1																																																																																			CCT3	-	NULL	ENSG00000163468		0.537	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT3	HGNC	protein_coding	OTTHUMT00000060602.3	-	0	68	0	C	NM_005998		156279014	-1	tier1	-	no_errors	ENST00000295688	ensembl	human	known	74_37	silent	8.64	74	7	SNP	0.993	A	A	156279014	C	A	156279014	2	1	133	1	0	0	0	0	0	0	0	1	2961	610	22	3		3	CCT3	1	156279014	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2758691	156279014	92971607	31	33953											
TTC24	164118	genome.wustl.edu	37	chr1	156554758	156554758	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagcagcacagcaggtgtCcagcacaggtgagggtggga	11	4	18	8	0	0	1	0	1	0	0	1	3	1	3	1	5	4	4	1	5	1	0	rs551186311	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:156554758C>A	ENST00000368237.3	+	6	1341	c.1341C>A	c.(1339-1341)gtC>gtA	p.V447V	TTC24_ENST00000478081.1_3'UTR|AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Silent_p.V447V			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	447										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)					CAGCAGGTGTCCAGCACAGGT	0.642													C|||	9	0.00179712	0	0	5008	,	,		16349	0		0	False		,,,				2504	0.0092																0													22	26	24					1																	156554758		2095	4230	6325	SO:0001819	synonymous_variant	0				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.1341C>A	1.37:g.156554758C>A			Q5T3H7	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V447	ENST00000368237.3	37	c.1341	CCDS53379.1	1	.	.	.	.	.	.	.	.	.	.	C	6.961	0.547286	0.13312	.	.	ENSG00000187862	ENST00000340086	.	.	.	3.61	-2.45	0.06481	.	.	.	.	.	T	0.06645	0.0170	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35549	-0.9784	4	.	.	.	-3.0E-4	1.8213	0.03111	0.2978:0.2277:0.3605:0.114	.	.	.	.	Y	220	.	.	S	+	2	0	TTC24	154821382	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.524000	0.22940	-0.464000	0.06963	-0.310000	0.09108	TCC	TTC24	-	NULL	ENSG00000187862		0.642	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC24	HGNC	protein_coding	OTTHUMT00000158547.1	-	0	51	0	C	XM_089384		156554758	1	tier1	-	no_errors	ENST00000368236	ensembl	human	known	74_37	silent	13.64	38	6	SNP	0.000	A	A	156554758	C	A	156554758	2	1	133	1	0	0	0	0	0	0	0	1	16741	842	30	3		3	TTC24	1	156554758	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	275744	156554758	92695863	32	33954											
INSRR	3645	genome.wustl.edu	37	chr1	156815775	156815775	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcattgaggtagaggtcGccgtcctctgccagccgctg	6	10	13	12	3	2	2	1	1	1	1	4	2	3	2	4	2	2	2	4	2	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:156815775G>C	ENST00000368195.3	-	9	2343	c.1947C>G	c.(1945-1947)ggC>ggG	p.G649G	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	649	Fibronectin type-III 2. {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)					GGTAGAGGTCGCCGTCCTCTG	0.701																																																	0													55	47	49					1																	156815775		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1947C>G	1.37:g.156815775G>C			O60724|Q5VZS3	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.G649	ENST00000368195.3	37	c.1947	CCDS1160.1	1																																																																																			INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000027644		0.701	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	-	0	60	0	G	NM_014215		156815775	-1	tier1	-	no_errors	ENST00000368195	ensembl	human	known	74_37	silent	13.10	73	11	SNP	0.985	C	C	156815775	G	C	156815775	2	2	133	1	0	0	0	0	0	0	0	1	7801	1074	38	5		5	INSRR	1	156815775	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	261017	156815775	92434846	33	33955											
VANGL2	57216	genome.wustl.edu	37	chr1	160389362	160389362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggtcgtgcgctccaccGacggcgccagccgcttctac	6	7	11	17	6	2	0	1	0	1	0	4	1	3	0	4	2	3	2	4	2	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:160389362G>T	ENST00000368061.2	+	4	1237	c.763G>T	c.(763-765)Gac>Tac	p.D255Y	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	255					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGCTCCACCGACGGCGCCAG	0.632																																																	0													23	26	25					1																	160389362		2202	4298	6500	SO:0001583	missense	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.763G>T	1.37:g.160389362G>T	ENSP00000357040:p.Asp255Tyr		D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.D255Y	ENST00000368061.2	37	c.763	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567597	0.86439	.	.	ENSG00000162738	ENST00000368061	D	0.87729	-2.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.94305	0.8170	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95026	0.8165	10	0.87932	D	0	-29.4243	17.7935	0.88562	0.0:0.0:1.0:0.0	.	255	Q9ULK5	VANG2_HUMAN	Y	255	ENSP00000357040:D255Y	ENSP00000357040:D255Y	D	+	1	0	VANGL2	158655986	1.000000	0.71417	0.938000	0.37757	0.994000	0.84299	9.269000	0.95684	2.606000	0.88127	0.563000	0.77884	GAC	VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.632	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1		0	27	0	G	NM_020335		160389362	1			no_errors	ENST00000368061	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.997	T	T	160389362	G	T	160389362	3	4	133	1	0	0	0	0	1	0	0	0	17169	1058	37	2	773	2	VANGL2	1	160389362	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3573587	160389362	88861259	34	33956											
ADCY10	55811	genome.wustl.edu	37	chr1	167792265	167792265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaataaagcaggatgtcCaagcagacaaaatagaaaaa	22	4	8	7	0	0	3	0	0	0	3	1	4	1	4	2	1	2	2	2	1	9	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:167792265C>A	ENST00000367851.4	-	29	4333	c.4149G>T	c.(4147-4149)ttG>ttT	p.L1383F	ADCY10_ENST00000545172.1_Missense_Mutation_p.L1230F|ADCY10_ENST00000367848.1_Missense_Mutation_p.L1291F|RP1-313L4.3_ENST00000451545.1_RNA	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1383					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						GCAGGATGTCCAAGCAGACAA	0.493																																																	0													111	104	106					1																	167792265		2203	4300	6503	SO:0001583	missense	0			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.4149G>T	1.37:g.167792265C>A	ENSP00000356825:p.Leu1383Phe		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.L1383F	ENST00000367851.4	37	c.4149	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775402	0.31411	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.76316	-1.01;-1.01;-1.01	5.09	2.17	0.27698	.	0.000000	0.39615	N	0.001316	T	0.78483	0.4290	M	0.72894	2.215	0.32388	N	0.553644	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.76394	-0.2975	9	0.44086	T	0.13	-15.2552	7.4621	0.27302	0.0:0.7104:0.0:0.2896	.	1291;1383	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	F	1230;284;1383;1291	ENSP00000441992:L1230F;ENSP00000356825:L1383F;ENSP00000356822:L1291F	ENSP00000271426:L284F	L	-	3	2	ADCY10	166058889	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	0.302000	0.19192	0.666000	0.31087	-0.136000	0.14681	TTG	ADCY10	-	pirsf_Adenylate_cylcase_typ10	ENSG00000143199		0.493	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	-	0	96	0	C	NM_018417		167792265	-1	tier1	-	no_errors	ENST00000367851	ensembl	human	known	74_37	missense	10.22	123	14	SNP	1.000	A	A	167792265	C	A	167792265	3	1	133	1	0	0	0	0	1	0	0	0	293	593	21	3	703	3	ADCY10	1	167792265	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	7402903	167792265	81458356	35	33957											
TIPRL	261726	genome.wustl.edu	37	chr1	168154083	168154083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctatacaacagattataaGggaaccttacttggagaatc	16	10	7	8	0	0	2	0	0	0	2	1	4	0	3	2	2	4	0	2	2	8	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:168154083G>T	ENST00000367833.2	+	3	496	c.351G>T	c.(349-351)aaG>aaT	p.K117N	TIPRL_ENST00000367830.3_Missense_Mutation_p.K117N	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	117					DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					CAGATTATAAGGGAACCTTAC	0.358																																																	0													72	70	71					1																	168154083		2203	4299	6502	SO:0001583	missense	0			AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.351G>T	1.37:g.168154083G>T	ENSP00000356807:p.Lys117Asn		B2R8V3|Q5HYB2|Q8IZ86	Missense_Mutation	SNP	pfam_TIP41-like	p.K117N	ENST00000367833.2	37	c.351	CCDS1270.1	1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807083	0.50421	.	.	ENSG00000143155	ENST00000367833;ENST00000367830	.	.	.	5.25	1.59	0.23543	.	0.094515	0.64402	D	0.000001	T	0.50137	0.1598	M	0.76002	2.32	0.45318	D	0.998312	D;B	0.69078	0.997;0.225	D;B	0.64877	0.93;0.095	T	0.48703	-0.9012	8	0.24483	T	0.36	-27.4591	7.6927	0.28577	0.4079:0.0:0.5921:0.0	.	117;117	O75663;O75663-2	TIPRL_HUMAN;.	N	117	.	ENSP00000356804:K117N	K	+	3	2	TIPRL	166420707	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.198000	0.42705	0.531000	0.28639	0.563000	0.77884	AAG	TIPRL	-	pfam_TIP41-like	ENSG00000143155		0.358	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIPRL	HGNC	protein_coding	OTTHUMT00000083822.1	-	0	61	0	G	NM_152902		168154083	1	tier1	-	no_errors	ENST00000367833	ensembl	human	known	74_37	missense	11.11	72	9	SNP	1.000	T	T	168154083	G	T	168154083	3	4	133	1	0	0	0	0	1	0	0	0	15973	991	35	3	361	3	TIPRL	1	168154083	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	361818	168154083	81096538	36	33958											
C1orf156	92342	genome.wustl.edu	37	chr1	169762250	169762250	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tacctagtaaacctgatccaCaaccaagatccaagactttt	15	10	4	12	0	0	3	0	1	0	2	2	3	2	3	5	0	3	1	5	0	7	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:169762250C>A	ENST00000310392.4	-	2	940	c.587G>T	c.(586-588)tGt>tTt	p.C196F	C1orf112_ENST00000498289.1_Intron|C1orf112_ENST00000286031.6_5'Flank|METTL18_ENST00000303469.2_Missense_Mutation_p.C196F|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000359326.4_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	196						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						ACCTGATCCACAACCAAGATC	0.398																																																	0													115	116	115					1																	169762250		2203	4300	6503	SO:0001583	missense	0			AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"histidine protein methyltransferase 1"	615255	"chromosome 1 open reading frame 156"	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.587G>T	1.37:g.169762250C>A	ENSP00000307975:p.Cys196Phe		B2R9T5	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom	p.C196F	ENST00000310392.4	37	c.587	CCDS1284.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198948	0.79015	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	T;T	0.79653	-1.29;-1.29	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.91801	0.7406	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92528	0.6031	10	0.66056	D	0.02	-0.4312	18.9761	0.92736	0.0:1.0:0.0:0.0	.	196	O95568	MET18_HUMAN	F	196	ENSP00000307975:C196F;ENSP00000307077:C196F	ENSP00000307077:C196F	C	-	2	0	METTL18	168028874	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.400000	0.79949	2.824000	0.97209	0.655000	0.94253	TGT	METTL18	-	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom	ENSG00000171806		0.398	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL18	HGNC	protein_coding	OTTHUMT00000087109.1		0	40	0	C	NM_033418		169762250	-1			no_errors	ENST00000303469	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	169762250	C	A	169762250	3	1	133	1	0	0	0	0	1	0	0	0	2013	478	17	3	535	3	C1orf156	1	169762250	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1608167	169762250	79488371	37	33959											
C1orf129	80133	genome.wustl.edu	37	chr1	170983336	170983336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actggatcaatgattccaatCctgtagttagcagactgatc	12	12	8	9	0	1	3	1	2	0	1	4	4	3	4	2	1	1	3	2	1	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:170983336C>T	ENST00000367759.4	+	16	1829	c.1675C>T	c.(1675-1677)Cct>Tct	p.P559S		NM_001163629.1	NP_001157101.1	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	0																	TGATTCCAATCCTGTAGTTAG	0.353																																																	0													169	141	150					1																	170983336		692	1591	2283	SO:0001583	missense	0			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.1675C>T	1.37:g.170983336C>T	ENSP00000356733:p.Pro559Ser		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P559S	ENST00000367759.4	37	c.1675	CCDS53429.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.817|6.817	0.519817|0.519817	0.13005|0.13005	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000367759|ENST00000426136	T|.	0.72051|.	-0.62|.	5.73|5.73	3.85|3.85	0.44370|0.44370	.|.	.|.	.|.	.|.	.|.	T|T	0.17023|0.17023	0.0409|0.0409	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|T	0.13522|0.13522	-1.0506|-1.0506	9|5	0.29301|.	T|.	0.29|.	.|.	9.0815|9.0815	0.36554|0.36554	0.0:0.8277:0.0:0.1723|0.0:0.8277:0.0:0.1723	.|.	559|.	F5GWX6|.	.|.	S|F	559|165	ENSP00000356733:P559S|.	ENSP00000356733:P559S|.	P|S	+|+	1|2	0|0	C1orf129|C1orf129	169249960|169249960	0.011000|0.011000	0.17503|0.17503	0.032000|0.032000	0.17829|0.17829	0.067000|0.067000	0.16453|0.16453	0.815000|0.815000	0.27253|0.27253	1.432000|1.432000	0.47375|0.47375	0.585000|0.585000	0.79938|0.79938	CCT|TCC	MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.353	MROH9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH9	HGNC	protein_coding		-	0	31	0	C	NM_025063		170983336	1	tier1	-	no_errors	ENST00000367759	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.083	T	T	170983336	C	T	170983336	3	4	133	1	0	0	0	0	1	0	0	0	2003	855	30	3	1859	3	C1orf129	1	170983336	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1221086	170983336	78267285	38	33960											
METTL13	51603	genome.wustl.edu	37	chr1	171759717	171759717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaccacaaagccatgatcGctggccttgccctgctgaga	11	7	9	14	1	0	2	0	2	0	1	1	3	0	2	4	1	4	2	4	1	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:171759717G>C	ENST00000361735.3	+	5	1701	c.1435G>C	c.(1435-1437)Gct>Cct	p.A479P	METTL13_ENST00000362019.3_Missense_Mutation_p.A393P|METTL13_ENST00000367737.5_Missense_Mutation_p.A323P|METTL13_ENST00000458517.1_Missense_Mutation_p.A478P|METTL13_ENST00000466643.1_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	479							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AGCCATGATCGCTGGCCTTGC	0.537																																																	0													86	86	86					1																	171759717		2203	4300	6503	SO:0001583	missense	0			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.1435G>C	1.37:g.171759717G>C	ENSP00000354920:p.Ala479Pro		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.A479P	ENST00000361735.3	37	c.1435	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903077	0.72754	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.91	5.91	0.95273	.	0.049242	0.85682	D	0.000000	D	0.87787	0.6265	M	0.87682	2.9	0.39904	D	0.973942	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.83275	0.959;0.996;0.981	D	0.89225	0.3573	10	0.72032	D	0.01	-30.7179	14.7059	0.69189	0.0:0.0:0.855:0.145	.	478;323;479	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	P	478;393;323;479	ENSP00000401955:A478P;ENSP00000355393:A393P;ENSP00000356711:A323P;ENSP00000354920:A479P	ENSP00000354920:A479P	A	+	1	0	METTL13	170026340	1.000000	0.71417	0.397000	0.26308	0.811000	0.45836	5.547000	0.67249	2.793000	0.96121	0.655000	0.94253	GCT	METTL13	-	NULL	ENSG00000010165		0.537	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	-	0	60	0	G	NM_014955		171759717	1	tier1	-	no_errors	ENST00000361735	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.583	C	C	171759717	G	C	171759717	3	2	133	1	0	0	0	0	1	0	0	0	9535	1087	38	5	1453	5	METTL13	1	171759717	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	776381	171759717	77490904	39	33961											
CACNA1E	777	genome.wustl.edu	37	chr1	181767767	181767767	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcctcagactgtggtgagGaggagacgctcactttcgaa	10	8	13	10	3	2	3	2	1	0	2	3	6	2	4	1	3	0	1	1	3	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:181767767G>T	ENST00000367573.2	+	48	6739	c.6739G>T	c.(6739-6741)Gag>Tag	p.E2247*	CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.E2228*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.E2136*|CACNA1E_ENST00000526775.1_Nonsense_Mutation_p.E2185*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.E1811*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.E2198*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.E2204*	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2247					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						CTGTGGTGAGGAGGAGACGCT	0.637																																																	0													29	34	32					1																	181767767		2119	4237	6356	SO:0001587	stop_gained	0			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.6739G>T	1.37:g.181767767G>T	ENSP00000356545:p.Glu2247*		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.E2247*	ENST00000367573.2	37	c.6739	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	48	14.200635	0.99784	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	5.55	5.55	0.83447	.	0.115163	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.1878	0.93651	0.0:0.0:1.0:0.0	.	.	.	.	X	2204;2185;2198;2136;1811;2228;2247	.	ENSP00000350183:E2198X	E	+	1	0	CACNA1E	180034390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.623000	0.54224	2.618000	0.88619	0.558000	0.71614	GAG	CACNA1E	-	NULL	ENSG00000198216		0.637	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2		0	51	0	G	NM_000721		181767767	1			no_errors	ENST00000367573	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	1.000	T	T	181767767	G	T	181767767	4	4	133	1	0	0	0	0	0	1	0	0	2549	1175	41	3	6796	3	CACNA1E	1	181767767	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	10008050	181767767	67482854	40	33962											
C1orf14	81626	genome.wustl.edu	37	chr1	182872292	182872292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggatacagttcaacaccaGcaccctgtaaattaaaagca	17	7	6	11	0	1	0	1	0	0	0	1	1	1	1	2	1	4	4	2	1	6	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:182872292G>T	ENST00000367547.3	-	9	1828	c.1592C>A	c.(1591-1593)gCt>gAt	p.A531D	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.A412D|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	603										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TTCAACACCAGCACCCTGTAA	0.328																																																	0													89	96	93					1																	182872292		2203	4300	6503	SO:0001583	missense	0			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1592C>A	1.37:g.182872292G>T	ENSP00000356518:p.Ala531Asp		Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	p.A531D	ENST00000367547.3	37	c.1592	CCDS30955.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986684	0.74589	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.46451	0.87;0.87	4.94	4.94	0.65067	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.000000	0.52532	D	0.000079	T	0.57829	0.2080	L	0.47190	1.495	0.47905	D	0.999541	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.58758	-0.7580	10	0.56958	D	0.05	-18.1307	15.4272	0.75061	0.0:0.0:1.0:0.0	.	603;412;531	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	D	531;600;412	ENSP00000356518:A531D;ENSP00000397308:A412D	ENSP00000287709:A600D	A	-	2	0	SHCBP1L	181138915	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.947000	0.70242	2.442000	0.82660	0.557000	0.71058	GCT	SHCBP1L	-	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	ENSG00000157060		0.328	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1L	HGNC	protein_coding	OTTHUMT00000085956.1	-	0	49	0	G	NM_030933		182872292	-1	tier1	-	no_errors	ENST00000367547	ensembl	human	known	74_37	missense	5.26	70	4	SNP	1.000	T	T	182872292	G	T	182872292	3	4	133	1	0	0	0	0	1	0	0	0	2007	971	34	3	377	3	C1orf14	1	182872292	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1104525	182872292	66378329	41	33963											
ZBTB41	360023	genome.wustl.edu	37	chr1	197169221	197169221	+	Missense_Mutation	SNP	A	A	G	1	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	ctgaatgtgttacgtgatccAgggtgacaacatcagtgctt	10	12	11	8	1	1	3	1	3	0	0	2	3	2	3	1	1	3	2	1	1	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:197169221A>G	ENST00000367405.4	-	1	451	c.383T>C	c.(382-384)cTg>cCg	p.L128P	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	128	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)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TACGTGATCCAGGGTGACAAC	0.363																																																	0													67	65	66					1																	197169221		2203	4300	6503	SO:0001583	missense	0				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.383T>C	1.37:g.197169221A>G	ENSP00000356375:p.Leu128Pro		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L128P	ENST00000367405.4	37	c.383	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588452	0.66105	.	.	ENSG00000177888	ENST00000367405	T	0.72282	-0.64	4.77	4.77	0.60923	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.33691	N	0.004645	T	0.79358	0.4432	L	0.60957	1.885	0.80722	D	1	D	0.59767	0.986	P	0.61477	0.889	T	0.82008	-0.0670	10	0.87932	D	0	.	14.2994	0.66336	1.0:0.0:0.0:0.0	.	128	Q5SVQ8	ZBT41_HUMAN	P	128	ENSP00000356375:L128P	ENSP00000356375:L128P	L	-	2	0	ZBTB41	195435844	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.957000	0.93082	1.755000	0.51935	0.254000	0.18369	CTG	ZBTB41	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000177888		0.363	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	HGNC	protein_coding	OTTHUMT00000088249.2		0	49	0	A	NM_194314		197169221	-1			no_errors	ENST00000367405	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	G	G	197169221	A	G	197169221	3	3	133	1	0	0	0	0	1	0	0	0	17591	188	7	4	2386	4	ZBTB41	1	197169221	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	14296929	197169221	52081400	42	33964											
CRB1	23418	genome.wustl.edu	37	chr1	197316469	197316469	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttcatttactttccaGatatagctgtaactgcacgg	13	14	6	8	1	1	1	1	0	0	1	2	1	2	1	1	1	4	3	1	1	6	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:197316469G>T	ENST00000367400.3	+	4	983		c.e4-1		CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000543483.1_Splice_Site|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000367399.2_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated						cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTACTTTCCAGATATAGCTGT	0.393																																																	0													170	160	163					1																	197316469		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.849-1G>T	1.37:g.197316469G>T			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	-	e4-1	ENST00000367400.3	37	c.849-1	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418520	0.83559	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7682	0.91881	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRB1	195583092	1.000000	0.71417	0.917000	0.36280	0.996000	0.88848	9.180000	0.94867	2.524000	0.85096	0.585000	0.79938	.	CRB1	-	-	ENSG00000134376		0.393	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	0	47	0	G	NM_201253	Intron	197316469	1	tier1	-	no_errors	ENST00000367400	ensembl	human	known	74_37	splice_site	12.00	66	9	SNP	0.998	T	T	197316469	G	T	197316469	5	4	133	1	0	0	0	0	0	0	1	0	3855	956	33	3	862	3	CRB1	1	197316469	Splice_Site	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	147248	197316469	51934152	43	33965											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202532001	202532001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcccgggaggcccgcctagCcaccctgaccagccgtgtag	6	4	14	17	3	0	1	0	1	0	0	0	2	0	2	7	3	2	1	7	3	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:202532001C>A	ENST00000608999.1	+	20	2756	c.2603C>A	c.(2602-2604)gCc>gAc	p.A868D	PPP1R12B_ENST00000367270.4_Missense_Mutation_p.A94D|PPP1R12B_ENST00000391959.3_Missense_Mutation_p.A94D|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A868D	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	868					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)			GCCCGCCTAGCCACCCTGACC	0.512																																																	0													46	57	53					1																	202532001		2200	4299	6499	SO:0001583	missense	0			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.2603C>A	1.37:g.202532001C>A	ENSP00000476755:p.Ala868Asp		A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A868D	ENST00000608999.1	37	c.2603	CCDS1426.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033121	0.75504	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000391959;ENST00000367270	T;T;T;T	0.47869	0.96;0.99;0.83;0.83	5.07	5.07	0.68467	.	0.103173	0.42548	D	0.000684	T	0.62307	0.2417	M	0.62723	1.935	0.48452	D	0.99965	D;D;P	0.89917	1.0;0.993;0.956	D;P;P	0.71414	0.973;0.777;0.72	T	0.56195	-0.8019	10	0.13470	T	0.59	.	15.7557	0.78021	0.0:1.0:0.0:0.0	.	94;868;868	O60237-3;O60237;F8W8M3	.;MYPT2_HUMAN;.	D	868;868;94;94	ENSP00000384496:A868D;ENSP00000337897:A868D;ENSP00000375821:A94D;ENSP00000356239:A94D	ENSP00000337897:A868D	A	+	2	0	PPP1R12B	200798624	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.338000	0.59316	2.505000	0.84491	0.655000	0.94253	GCC	PPP1R12B	-	pirsf_Pase-1_reg_su_12A/B/C_euk	ENSG00000077157		0.512	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	-	0	82	0	C	NM_032105		202532001	1	tier1	-	no_errors	ENST00000336894	ensembl	human	known	74_37	missense	5.98	110	7	SNP	1.000	A	A	202532001	C	A	202532001	3	1	133	1	0	0	0	0	1	0	0	0	12397	739	26	3	2771	3	PPP1R12B	1	202532001	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	5215532	202532001	46718620	44	33966											
ATP2B4	493	genome.wustl.edu	37	chr1	203669405	203669405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgagagctctctgacaGgggaatctgaccatgtcaag	11	10	12	8	0	3	4	1	4	2	1	4	6	3	5	1	2	1	1	1	2	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:203669405G>C	ENST00000357681.5	+	5	1844	c.721G>C	c.(721-723)Ggg>Cgg	p.G241R	ATP2B4_ENST00000341360.2_Missense_Mutation_p.G241R|ATP2B4_ENST00000391954.2_Missense_Mutation_p.G241R|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G241R|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G241R	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	241					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)			CTCTCTGACAGGGGAATCTGA	0.517																																																	0													107	102	104					1																	203669405		2203	4300	6503	SO:0001583	missense	0			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.721G>C	1.37:g.203669405G>C	ENSP00000350310:p.Gly241Arg		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.G241R	ENST00000357681.5	37	c.721	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536199	0.85812	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.99311	-5.73;-5.73;-5.73;-5.73;-5.73	5.03	5.03	0.67393	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.51477	D	0.000095	D	0.99704	0.9887	H	0.98466	4.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.97158	0.9836	10	0.87932	D	0	-25.8455	18.3362	0.90288	0.0:0.0:1.0:0.0	.	241;241;241	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	R	241	ENSP00000350310:G241R;ENSP00000356187:G241R;ENSP00000356188:G241R;ENSP00000375816:G241R;ENSP00000340930:G241R	ENSP00000340930:G241R	G	+	1	0	ATP2B4	201936028	1.000000	0.71417	0.769000	0.31535	0.666000	0.39218	9.807000	0.99171	2.497000	0.84241	0.655000	0.94253	GGG	ATP2B4	-	pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000058668		0.517	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	-	0	60	0	G	NM_001001396		203669405	1	tier1	-	no_errors	ENST00000357681	ensembl	human	known	74_37	missense	19.74	61	15	SNP	1.000	C	C	203669405	G	C	203669405	3	2	133	1	0	0	0	0	1	0	0	0	1143	1000	35	5	735	5	ATP2B4	1	203669405	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1137404	203669405	45581216	45	33967											
LAX1	54900	genome.wustl.edu	37	chr1	203743063	203743063	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccatgccacagagtacGcggtgggtatctatgacaac	12	8	10	11	2	1	2	0	1	1	1	2	2	2	2	2	2	3	2	2	2	4	3	rs151128475	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:203743063G>C	ENST00000442561.2	+	5	841	c.451G>C	c.(451-453)Gcg>Ccg	p.A151P	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.A135P	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	151					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAGAGTACGCGGTGGGTAT	0.552																																																	0													82	75	77					1																	203743063		2203	4300	6503	SO:0001583	missense	0			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"LAT-like membrane associated protein", "linker for activation of x cells"					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.451G>C	1.37:g.203743063G>C	ENSP00000406970:p.Ala151Pro		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	NULL	p.A151P	ENST00000442561.2	37	c.451	CCDS1441.2	1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621693	0.28889	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.34	-4.57	0.03421	.	0.932856	0.08978	N	0.866221	T	0.29620	0.0739	L	0.53249	1.67	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.17979	0.02;0.02	T	0.37709	-0.9694	9	0.62326	D	0.03	-0.0641	0.2837	0.00248	0.2937:0.1856:0.2929:0.2279	.	135;151	B7Z744;Q8IWV1	.;LAX1_HUMAN	P	151;135	.	ENSP00000356186:A135P	A	+	1	0	LAX1	202009686	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.802000	0.04545	-1.408000	0.02040	-0.182000	0.12963	GCG	LAX1	-	NULL	ENSG00000122188		0.552	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAX1	HGNC	protein_coding	OTTHUMT00000087468.3	-	0	28	0	G	NM_017773		203743063	1	tier1	-	no_errors	ENST00000442561	ensembl	human	known	74_37	missense	23.91	35	11	SNP	0.000	C	C	203743063	G	C	203743063	3	2	133	1	0	0	0	0	1	0	0	0	8676	1087	38	5	514	5	LAX1	1	203743063	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	73658	203743063	45507558	46	33968											
IL10	3586	genome.wustl.edu	37	chr1	206945647	206945647	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactctgctgaaggcatctCggagatctcgaagcatgtta	10	11	10	10	2	4	2	1	1	3	1	6	4	4	2	0	2	2	4	0	2	3	1	rs550164520		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:206945647C>A	ENST00000423557.1	-	1	192	c.134G>T	c.(133-135)cGa>cTa	p.R45L	IL10_ENST00000471071.1_5'Flank	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	45					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GAAGGCATCTCGGAGATCTCG	0.547																																																	0													122	100	107					1																	206945647		2203	4300	6503	SO:0001583	missense	0			M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"Interleukins and interleukin receptors"	5962	protein-coding gene	gene with protein product	"cytokine synthesis inhibitory factor", "T-cell growth inhibitory factor"	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.134G>T	1.37:g.206945647C>A	ENSP00000412237:p.Arg45Leu			Missense_Mutation	SNP	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-10	p.R45L	ENST00000423557.1	37	c.134	CCDS1467.1	1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809518	0.70797	.	.	ENSG00000136634	ENST00000423557	T	0.71934	-0.61	5.86	5.86	0.93980	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	D	0.87330	0.6150	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89449	0.3729	10	0.87932	D	0	-13.9647	15.6773	0.77338	0.0:1.0:0.0:0.0	.	45	P22301	IL10_HUMAN	L	45	ENSP00000412237:R45L	ENSP00000412237:R45L	R	-	2	0	IL10	205012270	0.992000	0.36948	0.953000	0.39169	0.445000	0.32107	4.110000	0.57831	2.778000	0.95560	0.655000	0.94253	CGA	IL10	-	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-10	ENSG00000136634		0.547	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10	HGNC	protein_coding	OTTHUMT00000088564.3	-	0	51	0	C	NM_000572		206945647	-1	tier1	-	no_errors	ENST00000423557	ensembl	human	known	74_37	missense	13.43	58	9	SNP	0.980	A	A	206945647	C	A	206945647	3	1	133	1	0	0	0	0	1	0	0	0	7646	884	31	2	422	2	IL10	1	206945647	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3202584	206945647	42304974	47	33969											
PIGR	5284	genome.wustl.edu	37	chr1	207110474	207110474	+	Silent	SNP	C	C	T	0	0	0	1	1	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	agttgccaggcctggataggCgagccttcctgcagctgacc	7	8	13	13	1	0	1	0	1	0	0	1	3	1	2	5	3	4	3	5	3	1	3	rs148222338		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:207110474C>T	ENST00000356495.4	-	4	1194	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	337	Ig-like V-type 3.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTGGATAGGCGAGCCTTCCT	0.597																																																	0								C		2,4404	4.2+/-10.8	0,2,2201	63	56	58		1011	-0.4	0	1	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PIGR	NM_002644.3		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		337/765	207110474	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1011G>A	1.37:g.207110474C>T			Q68D81|Q8IZY7	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S337	ENST00000356495.4	37	c.1011	CCDS1474.1	1																																																																																			PIGR	-	smart_Ig_sub	ENSG00000162896		0.597	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	-	0	41	0	C	NM_002644		207110474	-1	tier1	rs148222338	no_errors	ENST00000356495	ensembl	human	known	74_37	silent	11.67	53	7	SNP	0.002	T	T	207110474	C	T	207110474	2	4	133	1	0	0	0	0	0	0	0	1	11936	755	27	1		1	PIGR	1	207110474	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	164827	207110474	42140147	48	33970											
C4BPA	722	genome.wustl.edu	37	chr1	207307755	207307755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttatttttcagcgttatGttgccctgaaccaaagctaa	11	16	6	8	1	1	1	1	1	0	0	1	1	1	1	2	0	4	3	2	0	5	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:207307755G>T	ENST00000367070.3	+	9	1285	c.1091G>T	c.(1090-1092)tGt>tTt	p.C364F		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	364	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCAGCGTTATGTTGCCCTGAA	0.388																																																	0													153	143	146					1																	207307755		2203	4300	6503	SO:0001583	missense	0			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1091G>T	1.37:g.207307755G>T	ENSP00000356037:p.Cys364Phe		Q5VVQ8	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.C364F	ENST00000367070.3	37	c.1091	CCDS1477.1	1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409349	0.62399	.	.	ENSG00000123838	ENST00000367070	T	0.34072	1.38	4.97	4.97	0.65823	Complement control module (3);Sushi/SCR/CCP (1);	0.000000	0.64402	D	0.000017	T	0.61375	0.2342	M	0.81802	2.56	0.39623	D	0.970065	D	0.89917	1.0	D	0.83275	0.996	T	0.66192	-0.5985	10	0.52906	T	0.07	.	14.1092	0.65111	0.0:0.0:1.0:0.0	.	364	P04003	C4BPA_HUMAN	F	364	ENSP00000356037:C364F	ENSP00000356037:C364F	C	+	2	0	C4BPA	205374378	1.000000	0.71417	0.558000	0.28319	0.148000	0.21650	3.901000	0.56303	2.471000	0.83476	0.591000	0.81541	TGT	C4BPA	-	superfamily_Sushi_SCR_CCP	ENSG00000123838		0.388	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	HGNC	protein_coding	OTTHUMT00000088089.3	-	0	64	0	G			207307755	1	tier1	-	no_errors	ENST00000367070	ensembl	human	known	74_37	missense	5.15	92	5	SNP	0.939	T	T	207307755	G	T	207307755	3	4	133	1	0	0	0	0	1	0	0	0	2256	1377	48	3	1121	3	C4BPA	1	207307755	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	197281	207307755	41942866	49	33971											
CENPF	1063	genome.wustl.edu	37	chr1	214814241	214814241	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacctgcaaaagcagtgtGaagagttggtgcaaatcaaa	16	7	11	7	0	1	3	1	1	0	2	1	3	1	3	1	1	3	4	1	1	5	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:214814241G>T	ENST00000366955.3	+	12	2728	c.2560G>T	c.(2560-2562)Gaa>Taa	p.E854*		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)		AAAGCAGTGTGAAGAGTTGGT	0.368																																					Colon(80;575 1284 11000 14801 43496)												0													37	38	37					1																	214814241		2203	4300	6503	SO:0001587	stop_gained	0			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.2560G>T	1.37:g.214814241G>T	ENSP00000355922:p.Glu854*		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.E854*	ENST00000366955.3	37	c.2560	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.754719	0.98941	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.48	3.54	0.40534	.	0.193909	0.25402	N	0.030937	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	7.0314	0.24969	0.1552:0.1405:0.7043:0.0	.	.	.	.	X	854	.	ENSP00000355922:E854X	E	+	1	0	CENPF	212880864	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	2.549000	0.45803	0.620000	0.30215	0.609000	0.83330	GAA	CENPF	-	NULL	ENSG00000117724		0.368	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1		0	22	0	G	NM_016343		214814241	1			no_errors	ENST00000366955	ensembl	human	known	74_37	nonsense	7.32	38	3	SNP	1.000	T	T	214814241	G	T	214814241	4	4	133	1	0	0	0	0	0	1	0	0	3238	1291	45	3	2602	3	CENPF	1	214814241	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	7506486	214814241	34436380	50	33972											
USH2A	7399	genome.wustl.edu	37	chr1	216595578	216595578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagccttgggaaaagacctCgtgactcagtcaaggatatt	12	9	10	10	1	2	2	2	1	0	1	3	4	2	4	3	2	1	0	3	2	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:216595578C>T	ENST00000307340.3	-	2	487	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	USH2A_ENST00000366943.2_Missense_Mutation_p.R34Q|USH2A_ENST00000366942.3_Missense_Mutation_p.R34Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	34					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)		GAAAAGACCTCGTGACTCAGT	0.453										HNSCC(13;0.011)																																							0													79	83	81					1																	216595578		2203	4300	6503	SO:0001583	missense	0			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.101G>A	1.37:g.216595578C>T	ENSP00000305941:p.Arg34Gln		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.R34Q	ENST00000307340.3	37	c.101	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	2.914	-0.224648	0.06061	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.17528	2.78;2.77;2.27	5.27	-3.48	0.04739	.	0.193128	0.25052	N	0.033512	T	0.03263	0.0095	N	0.00677	-1.265	0.20307	N	0.999915	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.0	T	0.37572	-0.9700	10	0.02654	T	1	.	11.6537	0.51304	0.0:0.3941:0.0:0.6059	.	34;34	O75445-2;O75445	.;USH2A_HUMAN	Q	34	ENSP00000305941:R34Q;ENSP00000355910:R34Q;ENSP00000355909:R34Q	ENSP00000305941:R34Q	R	-	2	0	USH2A	214662201	0.995000	0.38212	0.023000	0.16930	0.584000	0.36387	0.357000	0.20199	-0.699000	0.05077	0.591000	0.81541	CGA	USH2A	-	NULL	ENSG00000042781		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	45	0	C	NM_007123		216595578	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	14.29	54	9	SNP	0.671	T	T	216595578	C	T	216595578	3	4	133	1	0	0	0	0	1	0	0	0	17085	884	31	1	15805	1	USH2A	1	216595578	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1781337	216595578	32655043	51	33973											
TP53BP2	7159	genome.wustl.edu	37	chr1	224001971	224001971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	tgccaggggggcgttcatgaCgaaggaagaagcgaacttcg	11	6	16	8	4	1	2	1	1	0	1	2	5	1	3	1	4	3	1	1	4	4	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:224001971C>A	ENST00000343537.7	-	3	551	c.260G>T	c.(259-261)cGt>cTt	p.R87L	TP53BP2_ENST00000391878.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	81					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCGTTCATGACGAAGGAAGAA	0.453																																																	0													111	114	113					1																	224001971		1924	4153	6077	SO:0001583	missense	0			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.260G>T	1.37:g.224001971C>A	ENSP00000341957:p.Arg87Leu		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R87L	ENST00000343537.7	37	c.260	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.555326	0.96514	.	.	ENSG00000143514	ENST00000343537	T	0.54675	0.56	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.75481	0.3855	M	0.81341	2.54	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.78705	-0.2100	10	0.87932	D	0	.	19.266	0.93985	0.0:1.0:0.0:0.0	.	87	B4DG66	.	L	87	ENSP00000341957:R87L	ENSP00000341957:R87L	R	-	2	0	TP53BP2	222068594	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.250000	0.78287	2.572000	0.86782	0.563000	0.77884	CGT	TP53BP2	-	NULL	ENSG00000143514		0.453	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	HGNC	protein_coding	OTTHUMT00000090985.3	-	0	79	0	C	NM_001031685, NM_005426		224001971	-1	tier1	-	no_errors	ENST00000343537	ensembl	human	known	74_37	missense	9.59	66	7	SNP	1.000	A	A	224001971	C	A	224001971	3	1	133	1	0	0	0	0	1	0	0	0	16432	536	19	2	3208	2	TP53BP2	1	224001971	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	7406393	224001971	25248650	52	33974											
OBSCN	84033	genome.wustl.edu	37	chr1	228495817	228495817	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccccacccctcagagcctGaggtgaccattgtacggggg	7	6	13	15	2	1	3	1	2	0	1	1	3	1	3	6	3	2	1	6	3	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:228495817G>T	ENST00000422127.1	+	47	12516	c.12472G>T	c.(12472-12474)Gag>Tag	p.E4158*	OBSCN_ENST00000366709.4_Nonsense_Mutation_p.E1277*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.E4158*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.E5115*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.E1792*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4158	Ig-like 42.				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)				CTCAGAGCCTGAGGTGACCAT	0.612																																																	0													75	84	81					1																	228495817		2095	4214	6309	SO:0001587	stop_gained	0			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.12472G>T	1.37:g.228495817G>T	ENSP00000409493:p.Glu4158*		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E4158*	ENST00000422127.1	37	c.12472	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	63	75.045426	0.99993	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.	.	.	6.04	4.19	0.49359	.	0.070741	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	12.5657	0.56308	0.1351:0.0:0.8649:0.0	.	.	.	.	X	4158;4158;1792;1277	.	ENSP00000284548:E4158X	E	+	1	0	OBSCN	226562440	1.000000	0.71417	0.771000	0.31576	0.923000	0.55619	5.524000	0.67105	0.898000	0.36418	0.563000	0.77884	GAG	OBSCN	-	pfscan_Ig-like_dom	ENSG00000154358		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding			0	64	0	G	NM_052843		228495817	1			no_errors	ENST00000422127	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	0.955	T	T	228495817	G	T	228495817	4	4	133	1	0	0	0	0	0	1	0	0	10851	1291	45	3	12654	3	OBSCN	1	228495817	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	4493846	228495817	20754804	53	33975											
TARBP1	6894	genome.wustl.edu	37	chr1	234534271	234534271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcatcttcaataaggcctGaaaggcgtggaaggatgtaa	14	10	11	6	1	3	1	2	1	1	0	3	3	3	3	1	4	0	1	1	4	5	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:234534271G>A	ENST00000040877.1	-	26	4099	c.4100C>T	c.(4099-4101)tCa>tTa	p.S1367L	TARBP1_ENST00000483404.1_Intron	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1367					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)			AATAAGGCCTGAAAGGCGTGG	0.323																																																	0													70	72	71					1																	234534271		2203	4300	6503	SO:0001583	missense	0				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.4100C>T	1.37:g.234534271G>A	ENSP00000040877:p.Ser1367Leu		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.S1367L	ENST00000040877.1	37	c.4100	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172919	0.78452	.	.	ENSG00000059588	ENST00000040877	T	0.07908	3.15	5.85	5.85	0.93711	.	0.142516	0.49305	D	0.000151	T	0.18425	0.0442	M	0.75447	2.3	0.58432	D	0.999998	P	0.37015	0.578	B	0.40199	0.322	T	0.00422	-1.1749	10	0.49607	T	0.09	-0.3757	20.1589	0.98128	0.0:0.0:1.0:0.0	.	1367	Q13395	TARB1_HUMAN	L	1367	ENSP00000040877:S1367L	ENSP00000040877:S1367L	S	-	2	0	TARBP1	232600894	1.000000	0.71417	0.033000	0.17914	0.971000	0.66376	8.613000	0.90913	2.769000	0.95229	0.650000	0.86243	TCA	TARBP1	-	NULL	ENSG00000059588		0.323	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	-	0	43	0	G	NM_005646		234534271	-1	tier1	-	no_errors	ENST00000040877	ensembl	human	novel	74_37	missense	10.14	62	7	SNP	0.757	A	A	234534271	G	A	234534271	3	1	133	1	0	0	0	0	1	0	0	0	15602	1294	45	3	785	3	TARBP1	1	234534271	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	6038454	234534271	14716350	54	33976											
RYR2	6262	genome.wustl.edu	37	chr1	237666780	237666780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cctgacgcaagctgccttcaCacccatccctgtggatacca	9	8	7	17	1	1	1	1	1	0	0	2	2	2	2	5	1	3	2	5	1	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:237666780C>A	ENST00000366574.2	+	22	2905	c.2588C>A	c.(2587-2589)aCa>aAa	p.T863K	RYR2_ENST00000542537.1_Missense_Mutation_p.T847K|RYR2_ENST00000360064.6_Missense_Mutation_p.T861K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	863	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGCCTTCACACCCATCCCT	0.512																																																	0													101	104	103					1																	237666780		2067	4202	6269	SO:0001583	missense	0			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.2588C>A	1.37:g.237666780C>A	ENSP00000355533:p.Thr863Lys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.T861K	ENST00000366574.2	37	c.2582	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622075	0.87460	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.90844	-2.74;-2.74;-2.74	5.62	5.62	0.85841	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000005	D	0.88555	0.6468	N	0.10685	0.025	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.88529	0.3101	10	0.40728	T	0.16	.	13.262	0.60111	0.0:0.9273:0.0:0.0727	.	863	Q92736	RYR2_HUMAN	K	863;861;847	ENSP00000355533:T863K;ENSP00000353174:T861K;ENSP00000443798:T847K	ENSP00000353174:T861K	T	+	2	0	RYR2	235733403	0.995000	0.38212	0.966000	0.40874	0.943000	0.58893	3.266000	0.51569	2.801000	0.96364	0.650000	0.86243	ACA	RYR2	-	pfam_Ryanodine_rcpt	ENSG00000198626		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	46	0	C	NM_001035		237666780	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.997	A	A	237666780	C	A	237666780	3	1	133	1	0	0	0	0	1	0	0	0	13814	478	17	3	2674	3	RYR2	1	237666780	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3132509	237666780	11583841	55	33977											
OR2L2	26246	genome.wustl.edu	37	chr1	248201852	248201852	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagtctatctccttcactGgatgtgggattcagagtttc	9	14	9	9	0	4	1	2	0	2	1	6	3	4	3	1	2	0	1	1	2	2	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:248201852G>T	ENST00000366479.2	+	1	379	c.283G>T	c.(283-285)Gga>Tga	p.G95*	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|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)			ctccttcactggatgtgggat	0.423																																																	0													152	144	147					1																	248201852		2203	4300	6503	SO:0001587	stop_gained	0			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.283G>T	1.37:g.248201852G>T	ENSP00000355435:p.Gly95*		Q2M3T5	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G95*	ENST00000366479.2	37	c.283	CCDS31103.1	1	.	.	.	.	.	.	.	.	.	.	.	17.76	3.467772	0.63625	.	.	ENSG00000203663	ENST00000366479	.	.	.	1.9	1.9	0.25705	.	0.000000	0.31495	U	0.007548	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.3658	0.49671	0.0:0.0:1.0:0.0	.	.	.	.	X	95	.	ENSP00000355435:G95X	G	+	1	0	OR2L2	246268475	0.000000	0.05858	0.660000	0.29694	0.186000	0.23388	0.680000	0.25306	0.897000	0.36392	0.194000	0.17425	GGA	OR2L2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000203663		0.423	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L2	HGNC	protein_coding	OTTHUMT00000096871.1	-	0	121	0	G	NM_001004686		248201852	1	tier1	-	no_errors	ENST00000366479	ensembl	human	known	74_37	nonsense	12.44	183	26	SNP	0.042	T	T	248201852	G	T	248201852	4	4	133	1	0	0	0	0	0	1	0	0	11046	1349	47	3	285	3	OR2L2	1	248201852	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	10535072	248201852	1048769	56	33978											
OR2L3	391192	genome.wustl.edu	37	chr1	248224700	248224700	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaaagcctacctgacCtgcagcacccacctcactgt	12	6	8	15	0	1	2	1	1	0	1	1	3	1	3	5	1	4	2	5	1	3	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:248224700C>A	ENST00000359959.3	+	1	717	c.717C>A	c.(715-717)acC>acA	p.T239T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTACCTGACCTGCAGCACCC	0.478																																																	0													169	154	159					1																	248224700		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.717C>A	1.37:g.248224700C>A			B9EH44	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T239	ENST00000359959.3	37	c.717	CCDS31104.1	1																																																																																			OR2L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000198128		0.478	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	-	0	198	0	C	NM_001004687		248224700	1	tier1	-	no_errors	ENST00000359959	ensembl	human	known	74_37	silent	14.04	196	32	SNP	0.842	A	A	248224700	C	A	248224700	2	1	133	1	0	0	0	0	0	0	0	1	11047	668	24	3		3	OR2L3	1	248224700	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	22848	248224700	1025921	57	33979											
OR2T33	391195	genome.wustl.edu	37	chr1	248436323	248436323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaccttgtcatggttagtgGacctatgggatttgggtctc	7	14	12	8	0	2	0	1	0	1	0	3	2	2	2	2	4	1	1	2	4	3	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:248436323G>T	ENST00000318021.2	-	1	815	c.794C>A	c.(793-795)tCc>tAc	p.S265Y		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	265						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)			ATGGTTAGTGGACCTATGGGA	0.483																																																	0													140	152	148					1																	248436323		2203	4300	6503	SO:0001583	missense	0				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.794C>A	1.37:g.248436323G>T	ENSP00000324687:p.Ser265Tyr		B2RNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S265Y	ENST00000318021.2	37	c.794	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	4.279	0.050853	0.08243	.	.	ENSG00000177212	ENST00000318021	T	0.00277	8.34	1.77	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28815	U	0.014041	T	0.00724	0.0024	M	0.89968	3.075	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.20974	-1.0259	10	0.87932	D	0	.	11.0627	0.47957	0.0:0.0:1.0:0.0	.	265	Q8NG76	O2T33_HUMAN	Y	265	ENSP00000324687:S265Y	ENSP00000324687:S265Y	S	-	2	0	OR2T33	246502946	0.034000	0.19679	0.112000	0.21494	0.019000	0.09904	2.268000	0.43338	1.286000	0.44565	0.418000	0.28097	TCC	OR2T33	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177212		0.483	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	-	0	143	0	G	NM_001004695		248436323	-1	tier1	-	no_errors	ENST00000318021	ensembl	human	known	74_37	missense	5.88	159	10	SNP	0.001	T	T	248436323	G	T	248436323	3	4	133	1	0	0	0	0	1	0	0	0	11063	1174	41	3	171	3	OR2T33	1	248436323	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	211623	248436323	814298	58	33980											
OR2T4	127074	genome.wustl.edu	37	chr1	248525025	248525025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcggatttcatcctgttggGactcttcagacaatccaaac	10	12	8	11	1	3	1	2	0	1	1	6	3	5	3	2	2	1	1	2	2	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr1:248525025G>A	ENST00000366475.1	+	1	143	c.143G>A	c.(142-144)gGa>gAa	p.G48E		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	48						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)			ATCCTGTTGGGACTCTTCAGA	0.458																																																	0													155	139	145					1																	248525025		2203	4299	6502	SO:0001583	missense	0			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.143G>A	1.37:g.248525025G>A	ENSP00000355431:p.Gly48Glu		Q6IEZ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G48E	ENST00000366475.1	37	c.143	CCDS31113.1	1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693417	0.48202	.	.	ENSG00000196944	ENST00000366475	T	0.00655	5.95	3.21	3.21	0.36854	.	0.000000	0.44285	D	0.000479	T	0.04227	0.0117	M	0.83012	2.62	0.23232	N	0.99808	D	0.76494	0.999	D	0.83275	0.996	T	0.03875	-1.0996	10	0.87932	D	0	.	11.3177	0.49401	0.0:0.1861:0.8139:0.0	.	48	Q8NH00	OR2T4_HUMAN	E	48	ENSP00000355431:G48E	ENSP00000355431:G48E	G	+	2	0	OR2T4	246591648	0.183000	0.23186	0.443000	0.26883	0.190000	0.23558	0.531000	0.23052	1.315000	0.45114	0.306000	0.20318	GGA	OR2T4	-	NULL	ENSG00000196944		0.458	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T4	HGNC	protein_coding	OTTHUMT00000097349.2	-	0	112	0	G	NM_001004696		248525025	1	tier1	-	no_errors	ENST00000366475	ensembl	human	known	74_37	missense	10.43	103	12	SNP	0.430	A	A	248525025	G	A	248525025	3	1	133	1	0	0	0	0	1	0	0	0	11066	1174	41	3	145	3	OR2T4	1	248525025	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	88702	248525025	725596	59	33981											
TSSC1	7260	genome.wustl.edu	37	chr2	3193279	3193279	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgcaggggctccttgctCctgcaatgcaacagaggcag	8	8	12	13	0	0	1	0	0	0	1	3	1	3	1	3	3	5	6	3	3	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:3193279C>A	ENST00000382125.4	-	9	1182	c.990G>T	c.(988-990)aaG>aaT	p.K330N	TSSC1_ENST00000398659.4_Splice_Site_p.K357N|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	330										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GCTCCTTGCTCCTGCAATGCA	0.667																																					Colon(140;1261 1762 4183 34270 49743)												0													33	27	29					2																	3193279		2184	4277	6461	SO:0001630	splice_region_variant	0			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.990-1G>T	2.37:g.3193279C>A			D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K330N	ENST00000382125.4	37	c.990	CCDS1651.1	2	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063209	0.55432	.	.	ENSG00000032389	ENST00000382125;ENST00000398659	D;D	0.83506	-1.66;-1.73	5.11	3.27	0.37495	WD40/YVTN repeat-like-containing domain (1);	0.045524	0.85682	D	0.000000	T	0.74749	0.3757	L	0.60455	1.87	0.80722	D	1	P	0.41475	0.751	B	0.34590	0.186	T	0.72246	-0.4349	10	0.21014	T	0.42	.	10.9277	0.47199	0.0:0.859:0.0:0.141	.	330	Q53HC9	TSSC1_HUMAN	N	330;357	ENSP00000371559:K330N;ENSP00000381652:K357N	ENSP00000371559:K330N	K	-	3	2	TSSC1	3172286	1.000000	0.71417	0.867000	0.34043	0.876000	0.50452	3.928000	0.56506	2.369000	0.80426	0.591000	0.81541	AAG	TSSC1	-	NULL	ENSG00000032389		0.667	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC1	HGNC	protein_coding	OTTHUMT00000206694.2	-	0	61	0	C	NM_003310	Missense_Mutation	3193279	-1	tier1	-	no_errors	ENST00000382125	ensembl	human	known	74_37	missense	28.30	38	15	SNP	1.000	A	A	3193279	C	A	3193279	5	1	133	1	0	0	0	0	0	0	1	0	16714	869	30	3	177	3	TSSC1	2	3193279	Splice_Site	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		3193279	240006094	60	33982											
E2F6	1876	genome.wustl.edu	37	chr2	11591836	11591836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcacaatccttaattaaCtcatccaaagcatcttccat	14	12	3	12	0	2	1	1	1	1	0	5	1	5	1	3	0	3	2	3	0	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:11591836C>A	ENST00000381525.3	-	4	746	c.477G>T	c.(475-477)gaG>gaT	p.E159D	E2F6_ENST00000546212.1_Missense_Mutation_p.E84D|E2F6_ENST00000362009.4_Intron|E2F6_ENST00000542100.1_Missense_Mutation_p.E84D|E2F6_ENST00000307236.4_Missense_Mutation_p.E127D	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	159	Dimerization. {ECO:0000255}.|Leucine-zipper.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		CCTTAATTAACTCATCCAAAG	0.363																																																	0													38	32	34					2																	11591836		1804	4057	5861	SO:0001583	missense	0			AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.477G>T	2.37:g.11591836C>A	ENSP00000370936:p.Glu159Asp		A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Missense_Mutation	SNP	pfam_E2F_TDP	p.E159D	ENST00000381525.3	37	c.477	CCDS1680.2	2	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197704	0.38806	.	.	ENSG00000169016	ENST00000381525;ENST00000307236;ENST00000542100;ENST00000546212	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.94	2.95	0.34219	.	0.428495	0.29165	N	0.012960	T	0.80670	0.4667	L	0.46157	1.445	0.80722	D	1	B;B	0.31879	0.344;0.086	B;B	0.29077	0.076;0.098	T	0.71941	-0.4440	10	0.45353	T	0.12	0.0389	1.3788	0.02226	0.1546:0.3337:0.3026:0.2091	.	159;127	O75461;G5E936	E2F6_HUMAN;.	D	159;127;84;84	ENSP00000370936:E159D;ENSP00000302159:E127D;ENSP00000446315:E84D;ENSP00000438864:E84D	ENSP00000302159:E127D	E	-	3	2	E2F6	11509287	0.640000	0.27243	0.963000	0.40424	0.993000	0.82548	-0.199000	0.09491	0.300000	0.22699	0.650000	0.86243	GAG	E2F6	-	NULL	ENSG00000169016		0.363	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F6	HGNC	protein_coding	OTTHUMT00000207101.2	-	0	51	0	C	NM_001952		11591836	-1	tier1	-	no_errors	ENST00000381525	ensembl	human	known	74_37	missense	12.50	70	10	SNP	0.996	A	A	11591836	C	A	11591836	3	1	133	1	0	0	0	0	1	0	0	0	4885	564	20	3	384	3	E2F6	2	11591836	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	8398557	11591836	231607537	61	33983											
APOB	338	genome.wustl.edu	37	chr2	21230801	21230801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caagtttagaaaagttgaggGagccagattcataaaccaag	17	8	10	6	0	1	3	1	1	0	2	1	4	1	4	2	1	2	2	2	1	7	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:21230801G>C	ENST00000233242.1	-	26	9066	c.8939C>G	c.(8938-8940)tCc>tGc	p.S2980C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2980					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)					AAAGTTGAGGGAGCCAGATTC	0.428																																																	0													107	112	110					2																	21230801		2203	4300	6503	SO:0001583	missense	0			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.8939C>G	2.37:g.21230801G>C	ENSP00000233242:p.Ser2980Cys		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.S2980C	ENST00000233242.1	37	c.8939	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	6.718	0.501157	0.12822	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00737	5.76	5.74	4.51	0.55191	.	0.189896	0.37178	N	0.002216	T	0.00580	0.0019	N	0.08118	0	0.80722	D	1	P	0.36495	0.556	B	0.34038	0.174	T	0.78922	-0.2013	10	0.54805	T	0.06	.	10.2568	0.43403	0.8612:0.0:0.1388:0.0	.	2980	P04114	APOB_HUMAN	C	2980	ENSP00000233242:S2980C	ENSP00000233242:S2980C	S	-	2	0	APOB	21084306	0.993000	0.37304	0.210000	0.23637	0.637000	0.38172	3.648000	0.54410	0.993000	0.38866	-0.459000	0.05422	TCC	APOB	-	NULL	ENSG00000084674		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	82	0	G			21230801	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	12.16	65	9	SNP	0.746	C	C	21230801	G	C	21230801	3	2	133	1	0	0	0	0	1	0	0	0	785	1174	41	5	4768	5	APOB	2	21230801	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	9638965	21230801	221968572	62	33984											
ASXL2	55252	genome.wustl.edu	37	chr2	25994388	25994388	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgggtgatgggcagcctGactgcggggaggacgacgat	7	7	20	7	3	0	2	0	2	0	0	0	6	0	4	1	6	2	1	1	6	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:25994388G>C	ENST00000435504.4	-	6	718	c.425C>G	c.(424-426)tCa>tGa	p.S142*	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S114*|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	142	Ser-rich.				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)	p.S142*(1)		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)					TGGGCAGCCTGACTGCGGGGA	0.453																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											166	162	164					2																	25994388		2031	4179	6210	SO:0001587	stop_gained	0					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.425C>G	2.37:g.25994388G>C	ENSP00000391447:p.Ser142*		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.S142*	ENST00000435504.4	37	c.425		2	.	.	.	.	.	.	.	.	.	.	G	38	7.002838	0.97994	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	.	.	.	5.66	5.66	0.87406	.	0.151709	0.46145	D	0.000317	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.2846	18.309	0.90192	0.0:0.0:1.0:0.0	.	.	.	.	X	142;114	.	ENSP00000337250:S114X	S	-	2	0	ASXL2	25847892	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.533000	0.81994	2.672000	0.90937	0.591000	0.81541	TCA	ASXL2	-	NULL	ENSG00000143970		0.453	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	-	0	91	0	G	NM_018263		25994388	-1	tier1	-	no_errors	ENST00000435504	ensembl	human	known	74_37	nonsense	12.00	110	15	SNP	1.000	C	C	25994388	G	C	25994388	4	2	133	1	0	0	0	0	0	1	0	0	1068	1294	45	5	3914	5	ASXL2	2	25994388	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	4763587	25994388	217204985	63	33985											
CENPA	1058	genome.wustl.edu	37	chr2	27015647	27015647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagaaatatgtgttaaattCactcgtggtgtggacttcaa	13	13	10	5	1	2	1	2	0	0	1	3	3	2	2	0	2	0	1	0	2	5	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:27015647C>T	ENST00000335756.4	+	3	434	c.234C>T	c.(232-234)ttC>ttT	p.F78F	CENPA_ENST00000475662.1_Intron|CENPA_ENST00000233505.8_Intron	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	78	CATD.|H3-like.				CENP-A containing nucleosome assembly (GO:0034080)|establishment of mitotic spindle orientation (GO:0000132)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|protein localization to chromosome, centromeric region (GO:0071459)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|condensed chromosome inner kinetochore (GO:0000939)|condensed nuclear chromosome kinetochore (GO:0000778)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGTTAAATTCACTCGTGGTG	0.507																																					Pancreas(28;769 878 30250 30578 41330)												0													90	91	90					2																	27015647		2203	4300	6503	SO:0001819	synonymous_variant	0			U14518	CCDS1729.1, CCDS42662.1	2p23.3	2013-11-05	2006-06-16		ENSG00000115163	ENSG00000115163			1851	protein-coding gene	gene with protein product	"centromere-specific histone", "histone H3-like centromeric protein A"	117139	"centromere protein A (17kD)", "centromere protein A, 17kDa"				Standard	NM_001042426		Approved	CENP-A, CenH3	uc002rhr.3	P49450	OTTHUMG00000097073	ENST00000335756.4:c.234C>T	2.37:g.27015647C>T			D6W544|Q53T74|Q9BVW2	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.F78	ENST00000335756.4	37	c.234	CCDS1729.1	2																																																																																			CENPA	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3	ENSG00000115163		0.507	CENPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPA	HGNC	protein_coding	OTTHUMT00000214190.2	-	0	43	0	C	NM_001809		27015647	1	tier1	-	no_errors	ENST00000335756	ensembl	human	known	74_37	silent	10.77	58	7	SNP	0.998	T	T	27015647	C	T	27015647	2	4	133	1	0	0	0	0	0	0	0	1	3233	825	29	3		3	CENPA	2	27015647	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1021259	27015647	216183726	64	33986											
PLB1	151056	genome.wustl.edu	37	chr2	28820876	28820876	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcactccctacagtgcaGgaggggacggctccctggag	7	7	14	13	1	1	0	1	0	0	0	3	3	3	3	2	5	3	3	2	5	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:28820876G>T	ENST00000327757.5	+	34	2370	c.2326G>T	c.(2326-2328)Gga>Tga	p.G776*	PLB1_ENST00000422425.2_Nonsense_Mutation_p.G765*	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	776	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)					CTACAGTGCAGGAGGGGACGG	0.517																																																	0													112	95	101					2																	28820876		2203	4300	6503	SO:0001587	stop_gained	0				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.2326G>T	2.37:g.28820876G>T	ENSP00000330442:p.Gly776*		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Nonsense_Mutation	SNP	pfam_Lipase_GDSL	p.G765*	ENST00000327757.5	37	c.2293	CCDS33168.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.398610|7.398610	0.98258|0.98258	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425|ENST00000404858	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.092793|.	0.47455|.	D|.	0.000222|.	.|T	.|0.74230	.|0.3689	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71300	.|-0.4634	.|4	0.87932|.	D|.	0|.	-17.655|-17.655	17.4764|17.4764	0.87660|0.87660	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	776;765|763	.|.	ENSP00000330442:G776X|.	G|Q	+|+	1|3	0|2	PLB1|PLB1	28674380|28674380	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.487000|0.487000	0.33371|0.33371	5.903000|5.903000	0.69877|0.69877	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GGA|CAG	PLB1	-	pfam_Lipase_GDSL	ENSG00000163803		0.517	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	-	0	64	0	G			28820876	1	tier1	-	no_errors	ENST00000422425	ensembl	human	known	74_37	nonsense	10.78	91	11	SNP	0.997	T	T	28820876	G	T	28820876	4	4	133	1	0	0	0	0	0	1	0	0	12063	1001	35	3	2493	3	PLB1	2	28820876	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1805229	28820876	214378497	65	33987											
LTBP1	4052	genome.wustl.edu	37	chr2	33585729	33585729	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactataatctcaatgacGccagtctctgtgataatgtg	11	13	8	9	1	2	2	1	2	2	0	4	2	2	2	1	0	1	1	1	0	5	4	rs569029644		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:33585729G>C	ENST00000404816.2	+	27	4419	c.4066G>C	c.(4066-4068)Gcc>Ccc	p.A1356P	LTBP1_ENST00000418533.2_Missense_Mutation_p.A988P|LTBP1_ENST00000354476.3_Missense_Mutation_p.A1357P|LTBP1_ENST00000407925.1_Missense_Mutation_p.A1030P|LTBP1_ENST00000272273.5_Missense_Mutation_p.A254P|LTBP1_ENST00000402934.1_Missense_Mutation_p.A975P|LTBP1_ENST00000404525.1_Missense_Mutation_p.A977P|LTBP1_ENST00000390003.4_Missense_Mutation_p.A1031P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1356	TB 3.				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)				TCTCAATGACGCCAGTCTCTG	0.423																																																	0													119	111	114					2																	33585729		2203	4300	6503	SO:0001583	missense	0				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.4066G>C	2.37:g.33585729G>C	ENSP00000386043:p.Ala1356Pro		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A1357P	ENST00000404816.2	37	c.4069	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256925	0.80246	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	D;D;D;D;D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06	5.06	5.06	0.68205	Matrix fibril-associated (2);TGF-beta binding (1);	.	.	.	.	D	0.92688	0.7676	L	0.27053	0.805	0.58432	D	0.999996	D;D;D;D;D;D;D	0.76494	0.994;0.998;0.999;0.996;0.998;0.999;0.999	P;D;D;P;D;D;D	0.70227	0.775;0.925;0.93;0.872;0.942;0.968;0.966	D	0.90669	0.4596	9	0.21540	T	0.41	.	18.7975	0.92001	0.0:0.0:1.0:0.0	.	254;1356;988;977;1030;1031;1357	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	P	1356;1357;1031;988;975;977;1030;254;192	ENSP00000386043:A1356P;ENSP00000346467:A1357P;ENSP00000374653:A1031P;ENSP00000393057:A988P;ENSP00000384373:A975P;ENSP00000385359:A977P;ENSP00000384091:A1030P;ENSP00000272273:A254P;ENSP00000395211:A192P	ENSP00000272273:A254P	A	+	1	0	LTBP1	33439233	1.000000	0.71417	0.972000	0.41901	0.842000	0.47809	7.883000	0.87264	2.508000	0.84585	0.563000	0.77884	GCC	LTBP1	-	superfamily_TB_dom	ENSG00000049323		0.423	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	-	0	54	0	G	NM_206943		33585729	1	tier1	-	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	13.70	63	10	SNP	1.000	C	C	33585729	G	C	33585729	3	2	133	1	0	0	0	0	1	0	0	0	9108	1087	38	5	4227	5	LTBP1	2	33585729	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	4764853	33585729	209613644	66	33988											
SPTBN1	6711	genome.wustl.edu	37	chr2	54880793	54880793	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccaggcggcctatgcGggtgacaaggccgacgatat	8	6	14	13	5	0	1	0	1	0	0	1	3	1	1	4	4	1	0	4	4	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:54880793G>T	ENST00000356805.4	+	27	5906	c.5625G>T	c.(5623-5625)gcG>gcT	p.A1875A	SPTBN1_ENST00000333896.5_Silent_p.A1862A	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1875	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)			CGGCCTATGCGGGTGACAAGG	0.662																																																	0													38	42	40					2																	54880793		2203	4300	6503	SO:0001819	synonymous_variant	0				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.5625G>T	2.37:g.54880793G>T			B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A1875	ENST00000356805.4	37	c.5625	CCDS33198.1	2																																																																																			SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000115306		0.662	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3		0	64	0	G			54880793	1			no_errors	ENST00000356805	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.001	T	T	54880793	G	T	54880793	2	4	133	1	0	0	0	0	0	0	0	1	15166	1103	39	2		2	SPTBN1	2	54880793	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	21295064	54880793	188318580	67	33989											
CCDC104	112942	genome.wustl.edu	37	chr2	55762900	55762900	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaggaagaggaaaaaacagGtgcctacagaacatataaca	22	4	9	6	0	0	2	0	0	0	2	0	4	0	4	1	3	5	0	1	3	9	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:55762900G>A	ENST00000349456.4	+	6	685		c.e6+1		CCDC104_ENST00000406691.3_Splice_Site|CCDC104_ENST00000407816.3_Splice_Site|CCDC104_ENST00000403007.3_Missense_Mutation_p.V180M|CCDC104_ENST00000339012.3_Splice_Site|CCDC104_ENST00000490934.1_Splice_Site			Q96G28	CFA36_HUMAN												breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAAAAAACAGGTGCCTACAGA	0.279																																																	0													88	102	97					2																	55762900		2201	4300	6501	SO:0001630	splice_region_variant	0																														ENST00000349456.4:c.537+1G>A	2.37:g.55762900G>A			Q53SF0|Q53ST9|Q6UY34	Splice_Site	SNP	-	e7+1	ENST00000349456.4	37	c.612+1	CCDS1854.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.073500|3.073500	0.55646|0.55646	.|.	.|.	ENSG00000163001|ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816|ENST00000403007	.|T	.|0.36878	.|1.23	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45216	.|0.1331	.|.	.|.	.|.	0.20074|0.20074	N|N	0.999939|0.999939	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33497	.|-0.9866	.|5	.|.	.|.	.|.	.|.	17.5215|17.5215	0.87789|0.87789	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|M	-1|180	.|ENSP00000385972:V180M	.|.	.|V	+|+	.|1	.|0	CCDC104|CCDC104	55616404|55616404	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.555000|0.555000	0.35460|0.35460	5.570000|5.570000	0.67398|0.67398	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	.|GTG	CCDC104	-	-	ENSG00000163001		0.279	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC104	HGNC	protein_coding	OTTHUMT00000319610.2	-	0	46	0	G		Intron	55762900	1	tier1	-	no_errors	ENST00000339012	ensembl	human	known	74_37	splice_site	5.97	63	4	SNP	1.000	A	A	55762900	G	A	55762900	5	1	133	1	0	0	0	0	0	0	1	0	2746	1275	44	3	560	3	CCDC104	2	55762900	Splice_Site	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	882107	55762900	187436473	68	33990											
REL	5966	genome.wustl.edu	37	chr2	61118917	61118917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcagcaggcagcattccagGggagcacagcacagacaaca	15	3	11	12	0	1	1	1	0	0	1	2	2	2	2	1	3	5	5	1	3	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:61118917G>T	ENST00000295025.8	+	2	430	c.110G>T	c.(109-111)gGg>gTg	p.G37V	REL_ENST00000394479.3_Missense_Mutation_p.G37V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	37	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGCATTCCAGGGGAGCACAGC	0.448			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													193	172	179					2																	61118917		2203	4300	6503	SO:0001583	missense	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.110G>T	2.37:g.61118917G>T	ENSP00000295025:p.Gly37Val		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.G37V	ENST00000295025.8	37	c.110	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.115103	0.94339	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.58210	0.35;0.35	5.47	5.47	0.80525	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86599	0.1865	10	0.87932	D	0	-10.7364	19.3204	0.94236	0.0:0.0:1.0:0.0	.	37;37	Q17RU2;Q04864	.;REL_HUMAN	V	37	ENSP00000295025:G37V;ENSP00000377989:G37V	ENSP00000295025:G37V	G	+	2	0	REL	60972421	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.863000	0.99569	2.554000	0.86153	0.650000	0.86243	GGG	REL	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000162924		0.448	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	-	0	80	0	G	NM_002908		61118917	1	tier1	-	no_errors	ENST00000295025	ensembl	human	known	74_37	missense	6.67	112	8	SNP	1.000	T	T	61118917	G	T	61118917	3	4	133	1	0	0	0	0	1	0	0	0	13260	1232	43	3	116	3	REL	2	61118917	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5356017	61118917	182080456	69	33991											
TET3	200424	genome.wustl.edu	37	chr2	74275075	74275075	+	Silent	SNP	G	G	T	0	0	1	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	ccctccagggacagcctgctGccccctactcaggaaatgag	9	6	10	16	0	1	1	1	1	0	0	2	3	2	3	5	2	4	1	5	2	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:74275075G>T	ENST00000409262.3	+	1	1626	c.1626G>T	c.(1624-1626)ctG>ctT	p.L542L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	542					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						ACAGCCTGCTGCCCCCTACTC	0.642																																																	0													24	27	26					2																	74275075		1972	4153	6125	SO:0001819	synonymous_variant	0				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.1626G>T	2.37:g.74275075G>T			A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	NULL	p.L542	ENST00000409262.3	37	c.1626	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.642	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	-	0	38	0	G			74275075	1	tier1	-	no_errors	ENST00000409262	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T	T	74275075	G	T	74275075	2	4	133	1	0	0	0	0	0	0	0	1	15818	1306	46	3		3	TET3	2	74275075	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	13156158	74275075	168924298	70	33992											
LRRTM1	347730	genome.wustl.edu	37	chr2	80529474	80529474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtggttcggtttgtaatCaacgtagtattcctgggcag	9	14	12	6	2	1	0	1	0	0	0	3	0	2	0	1	3	1	6	1	3	5	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:80529474C>T	ENST00000295057.3	-	2	2127	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D491N|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	491					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGTTTGTAATCAACGTAGTAT	0.542										HNSCC(69;0.2)																																							0													144	118	127					2																	80529474		2203	4300	6503	SO:0001583	missense	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1471G>A	2.37:g.80529474C>T	ENSP00000295057:p.Asp491Asn		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D491N	ENST00000295057.3	37	c.1471	CCDS1966.1	2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291347	0.80914	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.49720	0.77;0.77	4.99	4.99	0.66335	.	0.000000	0.85682	U	0.000000	T	0.58736	0.2143	L	0.52573	1.65	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	T	0.57429	-0.7813	9	.	.	.	.	18.2542	0.90014	0.0:1.0:0.0:0.0	.	491	Q86UE6	LRRT1_HUMAN	N	491	ENSP00000295057:D491N;ENSP00000386646:D491N	.	D	-	1	0	LRRTM1	80382985	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.814000	0.86154	2.276000	0.75962	0.561000	0.74099	GAT	LRRTM1	-	NULL	ENSG00000162951		0.542	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	-	0	79	0	C	NM_178839		80529474	-1	tier1	-	no_errors	ENST00000295057	ensembl	human	known	74_37	missense	6.90	80	6	SNP	1.000	T	T	80529474	C	T	80529474	3	4	133	1	0	0	0	0	1	0	0	0	9074	826	29	3	101	3	LRRTM1	2	80529474	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	6254399	80529474	162669899	71	33993											
GNLY	10578	genome.wustl.edu	37	chr2	85922542	85922542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgcctggcccaggagggccCccaggtacgtgttggctctc	4	8	15	14	1	1	0	0	0	1	0	2	1	1	1	4	5	2	3	4	5	1	2	rs141055775		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:85922542C>A	ENST00000263863.4	+	2	280	c.152C>A	c.(151-153)cCc>cAc	p.P51H	GNLY_ENST00000409696.3_Missense_Mutation_p.P36H|GNLY_ENST00000524600.1_Missense_Mutation_p.P78H|GNLY_ENST00000533041.1_3'UTR	NM_006433.3	NP_006424.2	P22749	GNLY_HUMAN	granulysin	51					cellular defense response (GO:0006968)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular space (GO:0005615)				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						CAGGAGGGCCCCCAGGTACGT	0.622																																																	0													62	53	56					2																	85922542		2203	4300	6503	SO:0001583	missense	0			X54101	CCDS1984.1, CCDS46354.1	2p12-q11	2008-02-05			ENSG00000115523	ENSG00000115523			4414	protein-coding gene	gene with protein product	"T-lymphocyte activation gene 519"	188855		LAG2		2212946, 2434598	Standard	NM_012483		Approved	NKG5, LAG-2, D2S69E, TLA519	uc002sql.4	P22749	OTTHUMG00000130179	ENST00000263863.4:c.152C>A	2.37:g.85922542C>A	ENSP00000263863:p.Pro51His		P09325|Q6GU08	Missense_Mutation	SNP	pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	p.P51H	ENST00000263863.4	37	c.152	CCDS1984.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.62|12.62	1.991488|1.991488	0.35131|0.35131	.|.	.|.	ENSG00000115523|ENSG00000115523	ENST00000263863;ENST00000524600;ENST00000409696|ENST00000526018	T;T;T|T	0.57107|0.66460	0.42;0.45;0.44|-0.21	1.64|1.64	-3.1|-3.1	0.05315|0.05315	.|.	1.229440|1.229440	0.06348|0.06348	N|U	0.709403|0.709403	T|T	0.49932|0.49932	0.1586|0.1586	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.28933|.	0.228;0.092|.	B;B|.	0.16289|.	0.015;0.015|.	T|T	0.36939|0.36939	-0.9727|-0.9727	10|8	0.49607|0.39692	T|T	0.09|0.17	.|.	2.7255|2.7255	0.05212|0.05212	0.2176:0.3036:0.0:0.4788|0.2176:0.3036:0.0:0.4788	.|.	78;51|.	B4E3H9;P22749|.	.;GNLY_HUMAN|.	H|T	51;78;36|18	ENSP00000263863:P51H;ENSP00000436423:P78H;ENSP00000387116:P36H|ENSP00000434467:P18T	ENSP00000263863:P51H|ENSP00000434467:P18T	P|P	+|+	2|1	0|0	GNLY|GNLY	85776053|85776053	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.375000|0.375000	0.29983|0.29983	-1.329000|-1.329000	0.02677|0.02677	-1.014000|-1.014000	0.03379|0.03379	0.306000|0.306000	0.20318|0.20318	CCC|CCC	GNLY	-	NULL	ENSG00000115523		0.622	GNLY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNLY	HGNC	protein_coding	OTTHUMT00000252497.1	-	0	62	0	C	NM_006433		85922542	1	tier1	-	no_errors	ENST00000263863	ensembl	human	known	74_37	missense	8.64	74	7	SNP	0.000	A	A	85922542	C	A	85922542	3	1	133	1	0	0	0	0	1	0	0	0	6565	623	22	3	169	3	GNLY	2	85922542	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	5393068	85922542	157276831	72	33994											
TMEM131	23505	genome.wustl.edu	37	chr2	98435160	98435160	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgtaccgttatagcatCattttgtggtgtaggtcgaa	11	14	11	5	2	1	0	1	0	0	0	2	1	1	0	1	2	2	4	1	2	6	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:98435160C>A	ENST00000186436.5	-	12	1327	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y	TMEM131_ENST00000425805.2_Intron	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	367						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GTTATAGCATCATTTTGTGGT	0.343																																																	0													174	155	161					2																	98435160		1853	4100	5953	SO:0001583	missense	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1099G>T	2.37:g.98435160C>A	ENSP00000186436:p.Asp367Tyr			Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.D367Y	ENST00000186436.5	37	c.1099	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837787	0.91117	.	.	ENSG00000075568	ENST00000186436	T	0.32515	1.45	5.93	5.93	0.95920	PapD-like (1);	0.046823	0.85682	D	0.000000	T	0.42585	0.1209	L	0.29908	0.895	0.80722	D	1	D	0.60575	0.988	P	0.57371	0.819	T	0.22173	-1.0224	10	0.72032	D	0.01	-19.5536	20.3539	0.98825	0.0:1.0:0.0:0.0	.	367	Q92545	TM131_HUMAN	Y	367	ENSP00000186436:D367Y	ENSP00000186436:D367Y	D	-	1	0	TMEM131	97801592	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.469000	0.80959	2.826000	0.97356	0.655000	0.94253	GAT	TMEM131	-	NULL	ENSG00000075568		0.343	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	-	0	56	0	C	XM_371542		98435160	-1	tier1	-	no_errors	ENST00000186436	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	98435160	C	A	98435160	3	1	133	1	0	0	0	0	1	0	0	0	16091	826	29	3	4672	3	TMEM131	2	98435160	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	12512618	98435160	144764213	73	33995											
C2orf55	343990	genome.wustl.edu	37	chr2	99454683	99454683	+	Silent	SNP	C	C	A	0	0	0	1	1	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	gtgctacttcctgtggacgaCggcgattcttttctcttctt	4	17	9	11	3	3	0	0	0	3	0	5	3	4	1	1	2	2	1	1	2	1	7	rs147976810	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:99454683C>A	ENST00000397899.2	-	3	469	c.138G>T	c.(136-138)ccG>ccT	p.P46P	RNU7-46P_ENST00000459066.1_RNA|KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	46																	CTGTGGACGACGGCGATTCTT	0.408																																																	0													114	106	109					2																	99454683		1971	4151	6122	SO:0001819	synonymous_variant	0			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.138G>T	2.37:g.99454683C>A				Silent	SNP	NULL	p.P46	ENST00000397899.2	37	c.138	CCDS42720.1	2																																																																																			KIAA1211L	-	NULL	ENSG00000196872		0.408	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211L	HGNC	protein_coding	OTTHUMT00000329933.1	-	0	83	0	C	NM_207362		99454683	-1	tier1	-	no_errors	ENST00000397899	ensembl	human	known	74_37	silent	15.65	97	18	SNP	0.000	A	A	99454683	C	A	99454683	2	1	133	1	0	0	0	0	0	0	0	1	2183	523	19	2		2	C2orf55	2	99454683	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1019523	99454683	143744690	74	33996											
TMEM182	130827	genome.wustl.edu	37	chr2	103378716	103378716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttggagctctctttGgtgctttgggggtgttactc	2	19	12	8	0	3	0	0	0	3	0	5	1	3	1	0	4	3	3	0	4	1	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:103378716G>T	ENST00000412401.2	+	1	245	c.40G>T	c.(40-42)Ggt>Tgt	p.G14C	TMEM182_ENST00000409173.1_Intron|TMEM182_ENST00000409528.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	14						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						AGCTCTCTTTGGTGCTTTGGG	0.373																																																	0													145	139	141					2																	103378716		2203	4300	6503	SO:0001583	missense	0			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.40G>T	2.37:g.103378716G>T	ENSP00000394178:p.Gly14Cys		C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	NULL	p.G14C	ENST00000412401.2	37	c.40	CCDS2064.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140802	0.77775	.	.	ENSG00000170417	ENST00000412401	T	0.56611	0.45	6.02	6.02	0.97574	.	0.044791	0.85682	D	0.000000	T	0.67211	0.2869	L	0.57536	1.79	0.46725	D	0.999177	D	0.71674	0.998	P	0.60789	0.879	T	0.68119	-0.5493	10	0.87932	D	0	-22.3339	16.7888	0.85582	0.0:0.0:0.8707:0.1293	.	14	Q6ZP80	TM182_HUMAN	C	14	ENSP00000394178:G14C	ENSP00000394178:G14C	G	+	1	0	TMEM182	102745148	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.425000	0.80255	2.865000	0.98341	0.655000	0.94253	GGT	TMEM182	-	NULL	ENSG00000170417		0.373	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM182	HGNC	protein_coding	OTTHUMT00000253293.1		0	65	0	G	NM_144632		103378716	1			no_errors	ENST00000412401	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T	T	103378716	G	T	103378716	3	4	133	1	0	0	0	0	1	0	0	0	16148	1348	47	3	42	3	TMEM182	2	103378716	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3924033	103378716	139820657	75	33997											
TMEM182	130827	genome.wustl.edu	37	chr2	103431207	103431207	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgtttcatccttctcagGcatcctattttcattggtgg	5	19	7	10	0	4	0	3	0	2	0	7	0	6	0	2	3	0	2	2	3	1	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:103431207G>T	ENST00000412401.2	+	5	675	c.470G>T	c.(469-471)gGc>gTc	p.G157V	TMEM182_ENST00000409173.1_Splice_Site_p.G114V|TMEM182_ENST00000409528.1_Splice_Site_p.G61V|TMEM182_ENST00000486293.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	157						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TCCTTCTCAGGCATCCTATTT	0.443																																																	0													76	66	69					2																	103431207		2203	4300	6503	SO:0001630	splice_region_variant	0			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.470-1G>T	2.37:g.103431207G>T			C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	NULL	p.G157V	ENST00000412401.2	37	c.470	CCDS2064.1	2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523363	0.85600	.	.	ENSG00000170417	ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.73047	-0.71;-0.71;-0.71	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81324	-0.0984	9	.	.	.	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	157;114	Q6ZP80;B8ZZ71	TM182_HUMAN;.	V	61;114;157	ENSP00000387258:G61V;ENSP00000387184:G114V;ENSP00000394178:G157V	.	G	+	2	0	TMEM182	102797639	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.727000	0.74764	2.937000	0.99478	0.650000	0.86243	GGC	TMEM182	-	NULL	ENSG00000170417		0.443	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM182	HGNC	protein_coding	OTTHUMT00000253293.1	-	0	50	0	G	NM_144632	Missense_Mutation	103431207	1	tier1	-	no_errors	ENST00000412401	ensembl	human	known	74_37	missense	10.96	65	8	SNP	1.000	T	T	103431207	G	T	103431207	5	4	133	1	0	0	0	0	0	0	1	0	16148	1217	42	3	488	3	TMEM182	2	103431207	Splice_Site	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	52491	103431207	139768166	76	33998											
TUBA3D	113457	genome.wustl.edu	37	chr2	132235781	132235781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaggcgggtgtccagatCggcaatgcctgctgggaact	7	7	17	10	2	0	1	0	0	0	1	2	2	1	2	2	5	3	3	2	5	2	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:132235781C>T	ENST00000321253.6	+	2	155	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	16					'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)		GTGTCCAGATCGGCAATGCCT	0.502																																					Ovarian(137;2059 2432 35543 39401)												0													85	83	84					2																	132235781		2203	4297	6500	SO:0001819	synonymous_variant	0			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.48C>T	2.37:g.132235781C>T			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.I16	ENST00000321253.6	37	c.48	CCDS33290.1	2																																																																																			TUBA3D	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin	ENSG00000075886		0.502	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	-	0	134	0	C	NM_080386		132235781	1	tier1	-	no_errors	ENST00000321253	ensembl	human	known	74_37	silent	7.36	151	12	SNP	0.998	T	T	132235781	C	T	132235781	2	4	133	1	0	0	0	0	0	0	0	1	16796	874	31	1		1	TUBA3D	2	132235781	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	28804574	132235781	110963592	77	33999											
CCNT2	905	genome.wustl.edu	37	chr2	135705377	135705377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatgcattcatttggcttGcaaatggtccaattgggaga	10	14	11	6	0	1	1	1	0	0	1	2	2	2	1	1	3	2	4	1	3	3	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:135705377G>T	ENST00000264157.5	+	7	641	c.611G>T	c.(610-612)tGc>tTc	p.C204F	CCNT2_ENST00000537343.1_Missense_Mutation_p.C29F|CCNT2_ENST00000295238.6_Missense_Mutation_p.C204F	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	204					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)		CATTTGGCTTGCAAATGGTCC	0.408																																																	0													164	149	154					2																	135705377		2203	4300	6503	SO:0001583	missense	0			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.611G>T	2.37:g.135705377G>T	ENSP00000264157:p.Cys204Phe		A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.C204F	ENST00000264157.5	37	c.611	CCDS2174.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.607032|4.607032	0.87157|0.87157	.|.	.|.	ENSG00000082258|ENSG00000082258	ENST00000446247;ENST00000537343;ENST00000295238;ENST00000264157|ENST00000452521	T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Cyclin-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84492|0.84492	0.5484|0.5484	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.87578|.	0.998;0.975;0.998|.	D|D	0.86770|0.86770	0.1972|0.1972	10|5	0.66056|.	D|.	0.02|.	.|.	19.015|19.015	0.92890|0.92890	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	29;204;204|.	B4DH21;O60583;O60583-2|.	.;CCNT2_HUMAN;.|.	F|F	45;29;204;204|26	ENSP00000399497:C45F;ENSP00000439506:C29F;ENSP00000295238:C204F;ENSP00000264157:C204F|.	ENSP00000264157:C204F|.	C|L	+|+	2|3	0|2	CCNT2|CCNT2	135421847|135421847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.495000|2.495000	0.84180|0.84180	0.591000|0.591000	0.81541|0.81541	TGC|TTG	CCNT2	-	superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000082258		0.408	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	-	0	67	0	G	NM_058241		135705377	1	tier1	-	no_errors	ENST00000264157	ensembl	human	known	74_37	missense	10.64	84	10	SNP	1.000	T	T	135705377	G	T	135705377	3	4	133	1	0	0	0	0	1	0	0	0	2942	1319	46	3	637	3	CCNT2	2	135705377	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3469596	135705377	107493996	78	34000											
LRP1B	53353	genome.wustl.edu	37	chr2	141128402	141128402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	atcttccttacattcagtcaCacagtccatctgttcaaata	12	14	3	12	0	5	0	3	0	2	0	7	0	7	0	2	0	1	1	2	0	3	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:141128402C>A	ENST00000389484.3	-	71	11856	c.10885G>T	c.(10885-10887)Gtg>Ttg	p.V3629L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3629	LDL-receptor class A 28. {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)		CATTCAGTCACACAGTCCATC	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													133	121	125					2																	141128402		2202	4300	6502	SO:0001583	missense	0			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.10885G>T	2.37:g.141128402C>A	ENSP00000374135:p.Val3629Leu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V3629L	ENST00000389484.3	37	c.10885	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584624	0.46110	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.49720	0.77	5.26	5.26	0.73747	.	0.000000	0.64402	U	0.000005	T	0.35998	0.0951	L	0.36672	1.1	0.45005	D	0.99802	B	0.32918	0.39	B	0.31547	0.132	T	0.13522	-1.0506	10	0.22109	T	0.4	.	12.2412	0.54544	0.0:0.922:0.0:0.078	.	3629	Q9NZR2	LRP1B_HUMAN	L	3629;3567	ENSP00000374135:V3629L	ENSP00000374135:V3629L	V	-	1	0	LRP1B	140844872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.588000	0.60999	2.461000	0.83175	0.591000	0.81541	GTG	LRP1B	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	60	0	C	NM_018557		141128402	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	8.74	94	9	SNP	1.000	A	A	141128402	C	A	141128402	3	1	133	1	0	0	0	0	1	0	0	0	8990	478	17	3	2998	3	LRP1B	2	141128402	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	5423025	141128402	102070971	79	34001											
SCN3A	6328	genome.wustl.edu	37	chr2	165984514	165984514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttttgcattcttcctactGcaatctgcagattattcatt	8	18	4	11	0	3	1	1	0	2	1	4	1	4	1	2	0	4	3	2	0	3	8			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:165984514G>A	ENST00000360093.3	-	18	3511	c.3020C>T	c.(3019-3021)gCa>gTa	p.A1007V	SCN3A_ENST00000409101.3_Missense_Mutation_p.A958V|SCN3A_ENST00000283254.7_Missense_Mutation_p.A1007V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1007					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)	TCTTCCTACTGCAATCTGCAG	0.363																																																	0													58	60	59					2																	165984514		2203	4300	6503	SO:0001583	missense	0			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.3020C>T	2.37:g.165984514G>A	ENSP00000353206:p.Ala1007Val		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.A1007V	ENST00000360093.3	37	c.3020		2	.	.	.	.	.	.	.	.	.	.	G	35	5.480816	0.96307	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	6.04	6.04	0.98038	Sodium ion transport-associated (1);	0.215229	0.33092	N	0.005290	D	0.98061	0.9361	M	0.93507	3.425	0.80722	D	1	D;P;D;D;D	0.64830	0.994;0.943;0.971;0.971;0.978	D;P;P;P;D	0.65443	0.935;0.808;0.783;0.783;0.932	D	0.98281	1.0508	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1007;958;958;958;1007	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	V	1007;1007;958;958	ENSP00000353206:A1007V;ENSP00000283254:A1007V;ENSP00000386726:A958V;ENSP00000403348:A958V	ENSP00000283254:A1007V	A	-	2	0	SCN3A	165692760	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.809000	0.99208	2.873000	0.98535	0.561000	0.74099	GCA	SCN3A	-	pfam_Na_trans_assoc	ENSG00000153253		0.363	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding			0	47	0	G	NM_006922		165984514	-1			no_errors	ENST00000283254	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	165984514	G	A	165984514	3	1	133	1	0	0	0	0	1	0	0	0	13963	1319	46	3	3026	3	SCN3A	2	165984514	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	24856112	165984514	77214859	80	34002											
SCN1A	6323	genome.wustl.edu	37	chr2	166847874	166847874	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtcagatcagttttttCtgtaatagagttttcattta	10	19	7	5	0	4	2	3	0	1	2	4	2	4	2	0	1	0	3	0	1	3	9			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:166847874C>A	ENST00000303395.4	-	26	5910	c.5911G>T	c.(5911-5913)Gaa>Taa	p.E1971*	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.E1943*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.E1971*|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.E1960*			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1971					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)	TCAGTTTTTTCTGTAATAGAG	0.373																																																	0													90	85	87					2																	166847874		2203	4300	6503	SO:0001587	stop_gained	0			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.5911G>T	2.37:g.166847874C>A	ENSP00000303540:p.Glu1971*		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.E1971*	ENST00000303395.4	37	c.5911	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.073388	0.99331	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.67	5.67	0.87782	.	0.432569	0.21783	N	0.069166	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	.	.	.	X	1971;1971;1960;1943	.	ENSP00000303540:E1971X	E	-	1	0	SCN1A	166556120	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.255000	0.58804	2.672000	0.90937	0.484000	0.47621	GAA	SCN1A	-	prints_Na_channel_a1su	ENSG00000144285		0.373	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0	81	0	C	NM_006920		166847874	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	nonsense	9.64	75	8	SNP	1.000	A	A	166847874	C	A	166847874	4	1	133	1	0	0	0	0	0	1	0	0	13959	922	32	3	122	3	SCN1A	2	166847874	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	863360	166847874	76351499	81	34003											
SCN1A	6323	genome.wustl.edu	37	chr2	166848261	166848261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggagtttgtttggttgtgGcagattgagaggcggttcaa	7	14	16	4	1	1	2	1	1	0	2	1	4	1	3	0	5	0	5	0	5	1	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:166848261G>C	ENST00000303395.4	-	26	5523	c.5524C>G	c.(5524-5526)Cca>Gca	p.P1842A	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P1814A|SCN1A_ENST00000423058.2_Missense_Mutation_p.P1842A|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.P1831A			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1842					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)	TTTGGTTGTGGCAGATTGAGA	0.453																																																	0													93	96	95					2																	166848261		2203	4300	6503	SO:0001583	missense	0			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.5524C>G	2.37:g.166848261G>C	ENSP00000303540:p.Pro1842Ala		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.P1842A	ENST00000303395.4	37	c.5524	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	0.966	-0.701606	0.03255	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.95918	-3.85;-3.85;-3.81;-3.79	5.6	4.7	0.59300	.	0.094676	0.47093	N	0.000252	D	0.87724	0.6249	N	0.05351	-0.065	0.43698	D	0.996151	B	0.12630	0.006	B	0.19391	0.025	T	0.82408	-0.0472	10	0.05525	T	0.97	.	15.107	0.72329	0.0:0.268:0.732:0.0	.	1831	P35498-2	.	A	1842;1842;1831;1814	ENSP00000407030:P1842A;ENSP00000303540:P1842A;ENSP00000364554:P1831A;ENSP00000386312:P1814A	ENSP00000303540:P1842A	P	-	1	0	SCN1A	166556507	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.645000	0.46621	1.455000	0.47813	0.650000	0.86243	CCA	SCN1A	-	NULL	ENSG00000144285		0.453	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1		0	61	0	G	NM_006920		166848261	-1			no_errors	ENST00000303395	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	C	C	166848261	G	C	166848261	3	2	133	1	0	0	0	0	1	0	0	0	13959	1203	42	5	509	5	SCN1A	2	166848261	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	387	166848261	76351112	82	34004											
XIRP2	129446	genome.wustl.edu	37	chr2	168102950	168102950	+	Missense_Mutation	SNP	A	A	T	1	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	catcttaattcaggaagatgAaaaaggagatattaacatga	19	10	8	4	0	2	4	1	2	1	2	2	6	2	5	0	2	1	0	0	2	6	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:168102950A>T	ENST00000409195.1	+	9	5137	c.5048A>T	c.(5047-5049)gAa>gTa	p.E1683V	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1461V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1683V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1508					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						CAGGAAGATGAAAAAGGAGAT	0.353																																																	0													105	100	102					2																	168102950		1861	4088	5949	SO:0001583	missense	0			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.5048A>T	2.37:g.168102950A>T	ENSP00000386840:p.Glu1683Val		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.E1683V	ENST00000409195.1	37	c.5048	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590491	0.66219	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03496	3.91;3.91;3.91	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	T	0.00121	-1.2028	10	0.59425	D	0.04	-23.1808	14.7546	0.69554	1.0:0.0:0.0:0.0	.	1508;1508;1461	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	1683;1683;1461	ENSP00000386840:E1683V;ENSP00000295237:E1683V;ENSP00000387255:E1461V	ENSP00000295237:E1683V	E	+	2	0	XIRP2	167811196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.133000	0.77259	2.134000	0.65973	0.528000	0.53228	GAA	XIRP2	-	NULL	ENSG00000163092		0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	34	0	A	NM_152381		168102950	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	168102950	A	T	168102950	3	4	133	1	0	0	0	0	1	0	0	0	17479	246	9	5	5078	5	XIRP2	2	168102950	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	1254689	168102950	75096423	83	34005											
TTN	7273	genome.wustl.edu	37	chr2	179479481	179479481	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggaagatttctggggcctCtgaattggaaaagattattt	12	13	12	4	0	2	3	0	1	2	2	2	6	2	5	1	4	0	0	1	4	5	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:179479481C>G	ENST00000591111.1	-	211	44062		c.e211-1		TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000342992.6_Splice_Site|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGGGCCTCTGAATTGGAA	0.408																																																	0													50	44	46					2																	179479481		1820	4080	5900	SO:0001630	splice_region_variant	0			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.43838-1G>C	2.37:g.179479481C>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	Splice_Site	SNP	-	e209-1	ENST00000591111.1	37	c.41057-1		2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961831	0.74016	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179187726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.704000	0.84595	2.805000	0.96524	0.655000	0.94253	.	TTN	-	-	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	29	0	C	NM_133378	Intron	179479481	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	splice_site	5.45	52	3	SNP	1.000	G	G	179479481	C	G	179479481	5	3	133	1	0	0	0	0	0	0	1	0	16784	927	32	5	59341	5	TTN	2	179479481	Splice_Site	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	11376531	179479481	63719892	84	34006											
TTN	7273	genome.wustl.edu	37	chr2	179614278	179614278	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggataatcataaaaatgtgcCcttacagattctccctggtc	12	12	7	10	0	2	1	1	0	1	1	4	2	2	2	2	2	2	0	2	2	5	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:179614278C>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R4283S|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAAATGTGCCCTTACAGATT	0.368																																																	0													63	64	64					2																	179614278		2203	4299	6502	SO:0001627	intron_variant	0			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+3572G>T	2.37:g.179614278C>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R4283S	ENST00000591111.1	37	c.12849		2	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187971	0.38609	.	.	ENSG00000155657	ENST00000360870	T	0.56444	0.46	6.17	2.02	0.26589	.	.	.	.	.	T	0.31420	0.0796	N	0.19112	0.55	0.09310	N	0.999993	B	0.23249	0.082	B	0.21708	0.036	T	0.24799	-1.0150	9	0.09590	T	0.72	.	7.4195	0.27063	0.0:0.4425:0.0:0.5575	.	4283	Q8WZ42-6	.	S	4283	ENSP00000354117:R4283S	ENSP00000354117:R4283S	R	-	3	2	TTN	179322523	0.003000	0.15002	0.062000	0.19696	0.597000	0.36814	0.358000	0.20216	0.143000	0.18926	-0.150000	0.13652	AGG	TTN	-	NULL	ENSG00000155657		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	71	0	C	NM_133378		179614278	-1			no_errors	ENST00000360870	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.118	A	A	179614278	C	A	179614278	1	1	133	0	1	0	0	0	0	0	0	0	16784	622	22	3		3	TTN	2	179614278	Intron	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	134797	179614278	63585095	85	34007											
FSIP2	401024	genome.wustl.edu	37	chr2	186656428	186656428	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgacattgacaacccatCatttgcttcaattattgaga	12	15	5	9	0	3	3	2	3	1	1	3	4	3	3	1	0	2	1	1	0	3	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:186656428C>A	ENST00000424728.1	+	16	4565	c.4565C>A	c.(4564-4566)tCa>tAa	p.S1522*	AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Nonsense_Mutation_p.S1611*|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1522										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GACAACCCATCATTTGCTTCA	0.373																																																	0																																										SO:0001587	stop_gained	0			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.4565C>A	2.37:g.186656428C>A	ENSP00000401306:p.Ser1522*		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Nonsense_Mutation	SNP	NULL	p.S1611*	ENST00000424728.1	37	c.4832		2	.	.	.	.	.	.	.	.	.	.	C	40	8.241894	0.98722	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	.	.	.	5.2	2.33	0.28932	.	0.000000	0.43416	D	0.000573	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5058	0.07689	0.1721:0.5692:0.1665:0.0921	.	.	.	.	X	1611;1522;1522	.	ENSP00000321903:S1522X	S	+	2	0	FSIP2	186364673	0.613000	0.27009	0.748000	0.31131	0.396000	0.30629	0.698000	0.25571	1.428000	0.47296	0.650000	0.86243	TCA	FSIP2	-	NULL	ENSG00000188738		0.373	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	63	0	C	NM_173651		186656428	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	nonsense	5.32	89	5	SNP	0.448	A	A	186656428	C	A	186656428	4	1	133	1	0	0	0	0	0	1	0	0	6099	838	29	3	4894	3	FSIP2	2	186656428	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	7042150	186656428	56542945	86	34008											
COL3A1	1281	genome.wustl.edu	37	chr2	189867045	189867045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgagagaggtgaaactggcCctccaggacctgctggtttc	8	9	14	10	0	0	3	0	2	0	1	2	5	1	4	3	4	2	2	3	4	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:189867045C>A	ENST00000304636.3	+	35	2583	c.2413C>A	c.(2413-2415)Cct>Act	p.P805T	COL3A1_ENST00000317840.5_Missense_Mutation_p.P805T	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	805	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)	TGAAACTGGCCCTCCAGGACC	0.438																																																	0													128	121	124					2																	189867045		2203	4300	6503	SO:0001583	missense	0			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.2413C>A	2.37:g.189867045C>A	ENSP00000304408:p.Pro805Thr		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P805T	ENST00000304636.3	37	c.2413	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240974	0.58995	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.94330	-3.4;-3.4	5.77	5.77	0.91146	.	0.000000	0.49916	D	0.000132	D	0.92619	0.7655	M	0.63843	1.955	0.40682	D	0.982314	B	0.33637	0.42	B	0.35312	0.2	D	0.90771	0.4672	10	0.29301	T	0.29	.	19.9926	0.97371	0.0:1.0:0.0:0.0	.	805	P02461	CO3A1_HUMAN	T	805	ENSP00000304408:P805T;ENSP00000315243:P805T	ENSP00000304408:P805T	P	+	1	0	COL3A1	189575290	0.992000	0.36948	0.902000	0.35471	0.985000	0.73830	3.063000	0.49978	2.729000	0.93468	0.467000	0.42956	CCT	COL3A1	-	NULL	ENSG00000168542		0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3		0	105	0	C	NM_000090		189867045	1			no_errors	ENST00000304636	ensembl	human	known	74_37	missense	5.75	82	5	SNP	0.997	A	A	189867045	C	A	189867045	3	1	133	1	0	0	0	0	1	0	0	0	3695	623	22	3	2551	3	COL3A1	2	189867045	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3210617	189867045	53332328	87	34009											
RAPH1	65059	genome.wustl.edu	37	chr2	204304271	204304271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcctccgtaaccagccttCtgttgatcagacagcagttc	8	11	8	14	1	2	2	1	1	1	1	4	2	3	2	4	0	4	4	4	0	1	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:204304271C>T	ENST00000319170.5	-	14	3941	c.3642G>A	c.(3640-3642)caG>caA	p.Q1214Q	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Silent_p.Q1266Q|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1214					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						AACCAGCCTTCTGTTGATCAG	0.562																																																	0													91	82	85					2																	204304271		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3642G>A	2.37:g.204304271C>T			Q96Q37|Q9C0I2	Silent	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.Q1266	ENST00000319170.5	37	c.3798	CCDS2359.1	2																																																																																			RAPH1	-	NULL	ENSG00000173166		0.562	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2		0	51	0	C	NM_025252		204304271	-1			no_errors	ENST00000374493	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T	T	204304271	C	T	204304271	2	4	133	1	0	0	0	0	0	0	0	1	13095	912	32	3		3	RAPH1	2	204304271	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	14437226	204304271	38895102	88	34010											
PARD3B	117583	genome.wustl.edu	37	chr2	205986337	205986337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcaagatgtcttccgccagGcaatgaaatctccaagtgtg	11	10	9	11	1	3	2	1	1	2	1	5	2	4	2	3	1	0	1	3	1	4	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:205986337G>T	ENST00000406610.2	+	8	1036	c.829G>T	c.(829-831)Gca>Tca	p.A277S	PARD3B_ENST00000349953.3_Missense_Mutation_p.A277S|PARD3B_ENST00000351153.1_Missense_Mutation_p.A277S|PARD3B_ENST00000462231.1_Missense_Mutation_p.A277S|PARD3B_ENST00000358768.2_Missense_Mutation_p.A277S	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	277	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTTCCGCCAGGCAATGAAATC	0.448																																																	0													120	120	120					2																	205986337		1977	4165	6142	SO:0001583	missense	0			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.829G>T	2.37:g.205986337G>T	ENSP00000385848:p.Ala277Ser		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A277S	ENST00000406610.2	37	c.829		2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342775	0.82022	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	6.16	6.16	0.99307	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	D	0.91290	0.7254	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.964;1.0;1.0	D;D;P;D;D	0.91635	0.997;0.996;0.864;0.999;0.999	D	0.88419	0.3027	10	0.34782	T	0.22	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	277;277;277;277;277	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	S	277	ENSP00000385848:A277S;ENSP00000351618:A277S;ENSP00000317261:A277S;ENSP00000340280:A277S	ENSP00000340280:A277S	A	+	1	0	PARD3B	205694582	1.000000	0.71417	0.996000	0.52242	0.394000	0.30568	9.230000	0.95299	2.937000	0.99478	0.650000	0.86243	GCA	PARD3B	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000116117		0.448	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	-	0	59	0	G	NM_057177		205986337	1	tier1	-	no_errors	ENST00000406610	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	205986337	G	T	205986337	3	4	133	1	0	0	0	0	1	0	0	0	11483	1203	42	3	859	3	PARD3B	2	205986337	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1682066	205986337	37213036	89	34011											
C2orf80	389073	genome.wustl.edu	37	chr2	209049741	209049741	+	Silent	SNP	G	G	T	0	0	1	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	tcattttcccgaagtctgatGccaatataatctccccttaa	11	14	4	12	1	3	1	1	1	2	0	5	2	4	1	4	0	1	0	4	0	5	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:209049741G>T	ENST00000341287.4	-	3	252	c.57C>A	c.(55-57)ggC>ggA	p.G19G	C2orf80_ENST00000453017.1_Silent_p.G19G|C2orf80_ENST00000451346.1_Intron	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	19										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GAAGTCTGATGCCAATATAAT	0.438																																																	0													111	102	105					2																	209049741		1881	4112	5993	SO:0001819	synonymous_variant	0			AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"gonad development associated 1"	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.57C>A	2.37:g.209049741G>T			A6NKZ3	Silent	SNP	NULL	p.G19	ENST00000341287.4	37	c.57	CCDS42809.1	2																																																																																			C2orf80	-	NULL	ENSG00000188674		0.438	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf80	HGNC	protein_coding	OTTHUMT00000336931.1	-	0	56	0	G	NM_001099334		209049741	-1	tier1	-	no_errors	ENST00000341287	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T	T	209049741	G	T	209049741	2	4	133	1	0	0	0	0	0	0	0	1	2204	1306	46	3		3	C2orf80	2	209049741	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3063404	209049741	34149632	90	34012											
FN1	2335	genome.wustl.edu	37	chr2	216249641	216249641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcaggagcatcccagctGatcagtaggctggtgggggt	9	7	16	9	0	1	1	1	1	0	0	2	2	2	2	1	5	3	5	1	5	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:216249641G>A	ENST00000359671.1	-	28	4663	c.4398C>T	c.(4396-4398)atC>atT	p.I1466I	FN1_ENST00000443816.1_Silent_p.I1466I|FN1_ENST00000357867.4_Silent_p.I1466I|FN1_ENST00000446046.1_Silent_p.I1466I|FN1_ENST00000356005.4_Silent_p.I1466I|FN1_ENST00000354785.4_Silent_p.I1557I|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000323926.6_Silent_p.I1557I|FN1_ENST00000336916.4_Silent_p.I1466I|FN1_ENST00000346544.3_Silent_p.I1466I|FN1_ENST00000432072.2_Silent_p.I1557I|FN1_ENST00000357009.2_Silent_p.I1466I|FN1_ENST00000421182.1_Silent_p.I1466I|FN1_ENST00000345488.5_Silent_p.I1466I			P02751	FINC_HUMAN	fibronectin 1	1466	Cell-attachment.|Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	CATCCCAGCTGATCAGTAGGC	0.433																																																	0													64	63	63					2																	216249641		2203	4300	6503	SO:0001819	synonymous_variant	0				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.4398C>T	2.37:g.216249641G>A			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	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.I1557	ENST00000359671.1	37	c.4671		2																																																																																			FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.433	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding			0	71	0	G	NM_212476		216249641	-1			no_errors	ENST00000354785	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.998	A	A	216249641	G	A	216249641	2	1	133	1	0	0	0	0	0	0	0	1	5984	1280	45	3		3	FN1	2	216249641	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	7199900	216249641	26949732	91	34013											
FN1	2335	genome.wustl.edu	37	chr2	216289984	216289984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcggttggtaaacagctgcaCgaacatcggtgaaggggcca	11	6	15	9	3	0	1	0	1	0	0	1	2	0	1	1	5	4	4	1	5	4	2	rs150990682		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:216289984C>T	ENST00000359671.1	-	7	1134	c.869G>A	c.(868-870)cGt>cAt	p.R290H	FN1_ENST00000443816.1_Missense_Mutation_p.R290H|FN1_ENST00000357867.4_Missense_Mutation_p.R290H|FN1_ENST00000446046.1_Missense_Mutation_p.R290H|FN1_ENST00000356005.4_Missense_Mutation_p.R290H|FN1_ENST00000354785.4_Missense_Mutation_p.R290H|FN1_ENST00000323926.6_Missense_Mutation_p.R290H|FN1_ENST00000426059.1_Missense_Mutation_p.R290H|FN1_ENST00000336916.4_Missense_Mutation_p.R290H|FN1_ENST00000346544.3_Missense_Mutation_p.R290H|FN1_ENST00000432072.2_Missense_Mutation_p.R290H|FN1_ENST00000357009.2_Missense_Mutation_p.R290H|FN1_ENST00000421182.1_Missense_Mutation_p.R290H|FN1_ENST00000345488.5_Missense_Mutation_p.R290H			P02751	FINC_HUMAN	fibronectin 1	290					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)	AACAGCTGCACGAACATCGGT	0.532																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	112	107	108		869,869,869,869,869,869	1	0.1	2	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	FN1	NM_002026.2,NM_054034.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	290/2356,290/658,290/2177,290/2297,290/2331,290/2478	216289984	1,13005	2203	4300	6503	SO:0001583	missense	0				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.869G>A	2.37:g.216289984C>T	ENSP00000352696:p.Arg290His		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	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.R290H	ENST00000359671.1	37	c.869		2	.	.	.	.	.	.	.	.	.	.	C	11.56	1.673677	0.29693	0.0	1.16E-4	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;2.12;2.29;0.83;2.35;1.99;2.33;1.99;2.29;2.02;1.52;0.83;1.42;1.4	5.83	0.996	0.19844	.	0.226724	0.30455	N	0.009586	T	0.26231	0.0640	N	0.12182	0.205	0.25729	N	0.985287	B;B;B;B;B;B;B;B;B;B;B	0.17268	0.001;0.003;0.001;0.018;0.003;0.002;0.001;0.001;0.003;0.003;0.021	B;B;B;B;B;B;B;B;B;B;B	0.21360	0.002;0.002;0.003;0.034;0.003;0.001;0.003;0.002;0.003;0.003;0.008	T	0.17930	-1.0353	10	0.30854	T	0.27	.	9.6396	0.39831	0.0:0.5237:0.0:0.4763	.	290;290;290;290;290;290;290;290;290;290;290	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	H	290	ENSP00000394423:R290H;ENSP00000323534:R290H;ENSP00000338200:R290H;ENSP00000350534:R290H;ENSP00000346839:R290H;ENSP00000352696:R290H;ENSP00000265312:R290H;ENSP00000273049:R290H;ENSP00000349509:R290H;ENSP00000410422:R290H;ENSP00000415018:R290H;ENSP00000399538:R290H;ENSP00000348285:R290H;ENSP00000398907:R290H	ENSP00000265313:R290H	R	-	2	0	FN1	215998229	0.473000	0.25878	0.061000	0.19648	0.007000	0.05969	0.799000	0.27028	0.392000	0.25172	-0.244000	0.11960	CGT	FN1	-	NULL	ENSG00000115414		0.532	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding			0	60	0	C	NM_212476		216289984	-1			no_errors	ENST00000354785	ensembl	human	known	74_37	missense	5.66	49	3	SNP	0.159	T	T	216289984	C	T	216289984	3	4	133	1	0	0	0	0	1	0	0	0	5984	536	19	1	6757	1	FN1	2	216289984	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	40343	216289984	26909389	92	34014											
SERPINE2	5270	genome.wustl.edu	37	chr2	224866556	224866556	+	Missense_Mutation	SNP	T	T	A	0	1	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	cgagagacagaggattgaagTgggagcagatggaaggcagc	14	4	18	5	1	0	4	0	1	0	3	0	9	0	7	0	4	2	2	0	4	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:224866556T>A	ENST00000258405.4	-	2	304	c.62A>T	c.(61-63)cAc>cTc	p.H21L	SERPINE2_ENST00000409304.1_Missense_Mutation_p.H21L|SERPINE2_ENST00000409840.3_Missense_Mutation_p.H21L|SERPINE2_ENST00000447280.2_Missense_Mutation_p.H33L	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	21					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)		AGGATTGAAGTGGGAGCAGAT	0.512																																																	0													108	117	114					2																	224866556		2203	4300	6503	SO:0001583	missense	0			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.62A>T	2.37:g.224866556T>A	ENSP00000258405:p.His21Leu		B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.H21L	ENST00000258405.4	37	c.62	CCDS2460.1	2	.	.	.	.	.	.	.	.	.	.	T	8.172	0.792000	0.16258	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956;ENST00000423446	D;T;D;D;T;D	0.84146	-1.81;-0.7;-1.81;-1.81;-1.45;-1.51	5.17	-0.501	0.12008	Serpin domain (1);	1.242000	0.05104	N	0.487742	T	0.68375	0.2994	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	0.54510	-0.8283	10	0.45353	T	0.12	.	2.6819	0.05096	0.1116:0.1083:0.2309:0.5492	.	33;21	B4DIF2;P07093	.;GDN_HUMAN	L	21;21;21;33;21;21;21	ENSP00000386412:H21L;ENSP00000258405:H21L;ENSP00000386969:H21L;ENSP00000415786:H33L;ENSP00000408452:H21L;ENSP00000399655:H21L	ENSP00000258405:H21L	H	-	2	0	SERPINE2	224574800	0.995000	0.38212	0.148000	0.22405	0.131000	0.20780	1.175000	0.31944	-0.212000	0.10109	0.533000	0.62120	CAC	SERPINE2	-	superfamily_Serpin_dom	ENSG00000135919		0.512	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	HGNC	protein_coding	OTTHUMT00000256865.2	-	0	66	0	T	NM_006216		224866556	-1	tier1	-	no_errors	ENST00000258405	ensembl	human	known	74_37	missense	12.12	58	8	SNP	0.144	A	A	224866556	T	A	224866556	3	1	133	1	0	0	0	0	1	0	0	0	14157	1696	59	5	1166	5	SERPINE2	2	224866556	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	8576572	224866556	18332817	93	34015											
SPHKAP	80309	genome.wustl.edu	37	chr2	228883671	228883671	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagtctccaatgctgctGtaggtattaggccttgttaa	11	13	10	7	0	1	1	0	0	1	1	2	1	1	1	2	2	2	5	2	2	6	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:228883671G>T	ENST00000392056.3	-	7	1945	c.1899C>A	c.(1897-1899)taC>taA	p.Y633*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.Y633*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	633						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)		CAATGCTGCTGTAGGTATTAG	0.483																																																	0													70	68	69					2																	228883671		2203	4300	6503	SO:0001587	stop_gained	0				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.1899C>A	2.37:g.228883671G>T	ENSP00000375909:p.Tyr633*		Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	pfam_AKAP_110_C	p.Y633*	ENST00000392056.3	37	c.1899	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460185	0.63401	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	5.54	0.586	0.17434	.	0.238578	0.44285	D	0.000478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6325	0.45545	0.3333:0.0:0.6667:0.0	.	.	.	.	X	633	.	ENSP00000339886:Y633X	Y	-	3	2	SPHKAP	228591915	1.000000	0.71417	0.005000	0.12908	0.061000	0.15899	2.430000	0.44766	0.105000	0.17753	0.655000	0.94253	TAC	SPHKAP	-	NULL	ENSG00000153820		0.483	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0	53	0	G	NM_030623		228883671	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	nonsense	9.09	50	5	SNP	0.928	T	T	228883671	G	T	228883671	4	4	133	1	0	0	0	0	0	1	0	0	15095	1372	48	3	3227	3	SPHKAP	2	228883671	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	4017115	228883671	14315702	94	34016											
NMUR1	10316	genome.wustl.edu	37	chr2	232393634	232393634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcctcagggtcaaagtgcCccctggccgcactgccattg	7	8	11	15	1	2	0	2	0	0	0	3	0	3	0	5	2	2	1	5	2	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:232393634C>T	ENST00000305141.4	-	2	231	c.98G>A	c.(97-99)gGg>gAg	p.G33E		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	33					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTCAAAGTGCCCCCTGGCCGC	0.597																																																	0													49	45	46					2																	232393634		2203	4300	6503	SO:0001583	missense	0			AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"GPCR / Class A : Neuromedin U receptors"	4518	protein-coding gene	gene with protein product		604153	"G protein-coupled receptor 66"	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.98G>A	2.37:g.232393634C>T	ENSP00000305877:p.Gly33Glu		O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_1,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn	p.G33E	ENST00000305141.4	37	c.98	CCDS2486.1	2	.	.	.	.	.	.	.	.	.	.	c	8.344	0.829411	0.16749	.	.	ENSG00000171596	ENST00000305141	T	0.65364	-0.15	4.93	2.08	0.27032	.	1.574730	0.03967	N	0.291027	T	0.47135	0.1429	L	0.38531	1.155	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25745	-1.0123	10	0.02654	T	1	-9.0274	5.3222	0.15887	0.0:0.6449:0.1668:0.1883	.	33	Q9HB89	NMUR1_HUMAN	E	33	ENSP00000305877:G33E	ENSP00000305877:G33E	G	-	2	0	NMUR1	232101878	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.282000	0.08445	0.127000	0.18452	-0.324000	0.08512	GGG	NMUR1	-	prints_NeuromedU_rcpt_1	ENSG00000171596		0.597	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR1	HGNC	protein_coding	OTTHUMT00000256961.1		0	36	0	C	NM_006056		232393634	-1			no_errors	ENST00000305141	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.006	T	T	232393634	C	T	232393634	3	4	133	1	0	0	0	0	1	0	0	0	10545	623	22	3	1190	3	NMUR1	2	232393634	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3509963	232393634	10805739	95	34017											
USP40	55230	genome.wustl.edu	37	chr2	234429744	234429744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catactagtgacccatttctCttccttggtcaacaagctgt	9	14	6	12	0	2	1	1	1	1	0	4	1	3	1	2	1	3	1	2	1	4	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:234429744C>T	ENST00000427112.2	-	16	2250	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	USP40_ENST00000251722.6_Missense_Mutation_p.E739K|USP40_ENST00000450966.1_Missense_Mutation_p.E751K			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	739					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ACCCATTTCTCTTCCTTGGTC	0.368																																																	0													84	77	79					2																	234429744		1842	4083	5925	SO:0001583	missense	0			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2215G>A	2.37:g.234429744C>T	ENSP00000387898:p.Glu739Lys		Q6NX38|Q70EL0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.E751K	ENST00000427112.2	37	c.2251	CCDS46547.1	2	.	.	.	.	.	.	.	.	.	.	C	8.295	0.818600	0.16607	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000452724	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.75	2.88	0.33553	.	2.303910	0.01545	N	0.019397	T	0.37376	0.1001	L	0.29908	0.895	0.09310	N	1	B;B	0.28055	0.126;0.199	B;B	0.26770	0.033;0.073	T	0.22836	-1.0205	10	0.12430	T	0.62	.	9.1947	0.37220	0.0:0.8191:0.0:0.1809	.	739;751	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	K	751;739;739;34	ENSP00000415434:E751K;ENSP00000251722:E739K;ENSP00000387898:E739K;ENSP00000408853:E34K	ENSP00000251722:E739K	E	-	1	0	USP40	234094483	0.026000	0.19158	0.801000	0.32222	0.504000	0.33889	1.443000	0.35057	1.208000	0.43306	0.585000	0.79938	GAG	USP40	-	NULL	ENSG00000085982		0.368	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1		0	42	0	C	XM_114294		234429744	-1			no_errors	ENST00000450966	ensembl	human	known	74_37	missense	6.06	61	4	SNP	0.226	T	T	234429744	C	T	234429744	3	4	133	1	0	0	0	0	1	0	0	0	17121	922	32	3	1556	3	USP40	2	234429744	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2036110	234429744	8769629	96	34018											
LRRFIP1	9208	genome.wustl.edu	37	chr2	238688092	238688092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcattggataaaacagaaGagctcgaggtgagcaacggc	14	6	13	8	2	0	3	0	1	0	2	1	5	0	4	0	3	5	3	0	3	4	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:238688092G>C	ENST00000308482.9	+	24	1909	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	463					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TAAAACAGAAGAGCTCGAGGT	0.483																																																	0													62	58	59					2																	238688092		1568	3582	5150	SO:0001583	missense	0			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.1840G>C	2.37:g.238688092G>C	ENSP00000310109:p.Glu614Gln		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin	p.E614Q	ENST00000308482.9	37	c.1840	CCDS46551.1	2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836921	0.91117	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	D	0.86562	-2.14	4.85	4.85	0.62838	.	.	.	.	.	D	0.93835	0.8028	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.94733	0.7911	9	0.87932	D	0	.	17.3552	0.87334	0.0:0.0:1.0:0.0	.	368;614	B4DPC0;E9PGZ2	.;.	Q	614;604	ENSP00000310109:E614Q	ENSP00000310109:E614Q	E	+	1	0	LRRFIP1	238352831	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.375000	0.97178	2.409000	0.81822	0.563000	0.77884	GAG	LRRFIP1	-	NULL	ENSG00000124831		0.483	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000257169.3	-	0	71	0	G	NM_004735		238688092	1	tier1	-	no_errors	ENST00000308482	ensembl	human	putative	74_37	missense	9.41	77	8	SNP	1.000	C	C	238688092	G	C	238688092	3	2	133	1	0	0	0	0	1	0	0	0	9062	943	33	5	3546	5	LRRFIP1	2	238688092	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	4258348	238688092	4511281	97	34019											
HDAC4	9759	genome.wustl.edu	37	chr2	240002840	240002840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggggggtccaggccgcCggtgaaagccatgttgacgt	7	7	17	10	3	0	2	0	2	0	0	1	2	1	2	4	5	1	1	4	5	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:240002840C>A	ENST00000345617.3	-	22	3477	c.2686G>T	c.(2686-2688)Ggc>Tgc	p.G896C	HDAC4_ENST00000543185.1_Missense_Mutation_p.G480C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	896	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCCAGGCCGCCGGTGAAAGCC	0.622																																																	0													34	39	37					2																	240002840		2203	4300	6503	SO:0001583	missense	0			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.2686G>T	2.37:g.240002840C>A	ENSP00000264606:p.Gly896Cys		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.G896C	ENST00000345617.3	37	c.2686	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	c	20.5	3.999452	0.74818	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.70631	-0.5;-0.5	3.78	3.78	0.43462	Histone deacetylase domain (2);	0.112249	0.64402	D	0.000011	D	0.83732	0.5318	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86838	0.2015	10	0.72032	D	0.01	.	16.0323	0.80588	0.0:1.0:0.0:0.0	.	864;896	Q53SM2;P56524	.;HDAC4_HUMAN	C	896;784;480	ENSP00000264606:G896C;ENSP00000440481:G480C	ENSP00000264606:G896C	G	-	1	0	HDAC4	239667777	1.000000	0.71417	0.672000	0.29872	0.656000	0.38851	7.390000	0.79816	1.856000	0.53863	0.450000	0.29827	GGC	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.622	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	-	0	100	0	C	NM_006037		240002840	-1	tier1	-	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	10.32	113	13	SNP	1.000	A	A	240002840	C	A	240002840	3	1	133	1	0	0	0	0	1	0	0	0	7036	652	23	2	592	2	HDAC4	2	240002840	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1314748	240002840	3196533	98	34020											
HDLBP	3069	genome.wustl.edu	37	chr2	242195807	242195807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cttctagcctctccacagcaCgtttgtcctggaaaggaagg	9	10	10	12	1	2	0	0	0	2	0	4	2	3	2	3	3	2	2	3	3	3	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr2:242195807C>T	ENST00000391975.1	-	7	892	c.665G>A	c.(664-666)cGt>cAt	p.R222H	HDLBP_ENST00000310931.4_Missense_Mutation_p.R222H|HDLBP_ENST00000427183.2_Missense_Mutation_p.R258H|HDLBP_ENST00000391976.2_Missense_Mutation_p.R222H	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	222	KH 1. {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)		CTCCACAGCACGTTTGTCCTG	0.522																																																	0													98	84	89					2																	242195807		2203	4300	6503	SO:0001583	missense	0				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.665G>A	2.37:g.242195807C>T	ENSP00000375836:p.Arg222His		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.R222H	ENST00000391975.1	37	c.665	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.048339|4.048339	0.75846|0.75846	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000422933|ENST00000453141	T;T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96;1.21|.	5.87|5.87	5.87|5.87	0.94306|0.94306	K Homology (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69324|0.69324	0.3098|0.3098	L|L	0.43152|0.43152	1.355|1.355	0.49051|0.49051	D|D	0.999746|0.999746	D;D|.	0.76494|.	0.999;0.999|.	P;D|.	0.69142|.	0.835;0.962|.	T|T	0.62062|0.62062	-0.6933|-0.6933	10|5	0.49607|.	T|.	0.09|.	-9.0376|-9.0376	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	258;222|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	H|M	222;222;222;258;222|123	ENSP00000375836:R222H;ENSP00000375837:R222H;ENSP00000312042:R222H;ENSP00000399139:R258H;ENSP00000403807:R222H|.	ENSP00000312042:R222H|.	R|V	-|-	2|1	0|0	HDLBP|HDLBP	241844480|241844480	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.056000|0.056000	0.15407|0.15407	5.686000|5.686000	0.68211|0.68211	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTG	HDLBP	-	smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.522	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0	48	0	C	NM_203346		242195807	-1	tier1	-	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	11.76	60	8	SNP	1.000	T	T	242195807	C	T	242195807	3	4	133	1	0	0	0	0	1	0	0	0	7052	536	19	1	3229	1	HDLBP	2	242195807	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2192967	242195807	1003566	99	34021											
RAD18	56852	genome.wustl.edu	37	chr3	8983397	8983397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaagactgtctggaggctaCaggagtatatactttgacag	13	11	11	6	0	1	2	0	1	1	1	1	4	1	4	0	3	2	2	0	3	6	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:8983397C>A	ENST00000264926.2	-	5	474	c.358G>T	c.(358-360)Gta>Tta	p.V120L	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	120					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTGGAGGCTACAGGAGTATAT	0.403								Rad6 pathway																																									0													113	117	115					3																	8983397		2203	4300	6503	SO:0001583	missense	0				CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.358G>T	3.37:g.8983397C>A	ENSP00000264926:p.Val120Leu		Q58F55|Q9NRT6	Missense_Mutation	SNP	pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom	p.V120L	ENST00000264926.2	37	c.358	CCDS2571.1	3	.	.	.	.	.	.	.	.	.	.	C	9.248	1.040133	0.19669	.	.	ENSG00000070950	ENST00000264926	T	0.22945	1.93	5.14	0.00235	0.14050	.	0.980542	0.08330	N	0.962416	T	0.21509	0.0518	L	0.57536	1.79	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.33059	-0.9883	10	0.25751	T	0.34	-15.6418	4.1599	0.10278	0.0:0.4495:0.1684:0.382	.	120	Q9NS91	RAD18_HUMAN	L	120	ENSP00000264926:V120L	ENSP00000264926:V120L	V	-	1	0	RAD18	8958397	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.037000	0.13840	0.070000	0.16634	-0.794000	0.03295	GTA	RAD18	-	NULL	ENSG00000070950		0.403	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD18	HGNC	protein_coding	OTTHUMT00000207071.2		0	54	0	C	NM_020165		8983397	-1			no_errors	ENST00000264926	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	A	A	8983397	C	A	8983397	3	1	133	1	0	0	0	0	1	0	0	0	13025	478	17	3	1165	3	RAD18	3	8983397	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		8983397	189039033	100	34022											
MTMR14	64419	genome.wustl.edu	37	chr3	9726928	9726928	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcggctcagcaaaggggaGgaggtgagtataccacctac	12	6	14	9	1	1	1	1	1	0	0	2	4	1	3	2	5	3	3	2	5	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:9726928G>A	ENST00000296003.4	+	13	1283	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	MTMR14_ENST00000351233.5_Silent_p.E387E|MTMR14_ENST00000420925.1_Silent_p.E141E|MTMR14_ENST00000353332.5_Silent_p.E387E	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	387					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)					GCAAAGGGGAGGAGGTGAGTA	0.552																																																	0													151	142	145					3																	9726928		2129	4248	6377	SO:0001819	synonymous_variant	0			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.1161G>A	3.37:g.9726928G>A			Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	NULL	p.E387	ENST00000296003.4	37	c.1161	CCDS43043.1	3																																																																																			MTMR14	-	NULL	ENSG00000163719		0.552	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR14	HGNC	protein_coding	OTTHUMT00000338435.1	-	0	58	0	G	NM_022485		9726928	1	tier1	-	no_errors	ENST00000296003	ensembl	human	known	74_37	silent	12.35	71	10	SNP	1.000	A	A	9726928	G	A	9726928	2	1	133	1	0	0	0	0	0	0	0	1	9980	991	35	3		3	MTMR14	3	9726928	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	743531	9726928	188295502	101	34023											
NEK10	152110	genome.wustl.edu	37	chr3	27385845	27385845	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgctgaaatttctctCattcttgtagtttatactga	9	20	6	6	0	3	2	1	2	2	0	4	2	3	2	0	0	2	4	0	0	4	8			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:27385845C>A	ENST00000429845.2	-	6	642	c.280G>T	c.(280-282)Gag>Tag	p.E94*	NEK10_ENST00000341435.5_Nonsense_Mutation_p.E94*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	94					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						AAATTTCTCTCATTCTTGTAG	0.368																																																	0													102	85	90					3																	27385845		1565	3580	5145	SO:0001587	stop_gained	0			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.280G>T	3.37:g.27385845C>A	ENSP00000395849:p.Glu94*		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E94*	ENST00000429845.2	37	c.280		3	.	.	.	.	.	.	.	.	.	.	C	40	8.133856	0.98670	.	.	ENSG00000163491	ENST00000341435;ENST00000396636;ENST00000435750;ENST00000429845	.	.	.	5.76	5.76	0.90799	.	0.169368	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.1155	0.89553	0.0:1.0:0.0:0.0	.	.	.	.	X	94	.	ENSP00000343847:E94X	E	-	1	0	NEK10	27360849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.189000	0.65098	2.880000	0.98712	0.650000	0.86243	GAG	NEK10	-	NULL	ENSG00000163491		0.368	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	-	0	71	0	C	NM_152534		27385845	-1	tier1	-	no_errors	ENST00000341435	ensembl	human	known	74_37	nonsense	7.25	64	5	SNP	1.000	A	A	27385845	C	A	27385845	4	1	133	1	0	0	0	0	0	1	0	0	10361	835	29	3	1938	3	NEK10	3	27385845	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	17658917	27385845	170636585	102	34024											
OSBPL10	114884	genome.wustl.edu	37	chr3	31774813	31774813	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaattgcccaggttatgTtggcactggctgatggcaaa	11	11	12	7	0	0	1	0	1	0	0	0	1	0	1	1	4	1	6	1	4	4	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:31774813T>A	ENST00000396556.2	-	6	1153	c.1031A>T	c.(1030-1032)aAc>aTc	p.N344I	OSBPL10_ENST00000438237.2_Missense_Mutation_p.N280I|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	344					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)		CCAGGTTATGTTGGCACTGGC	0.493																																																	0													156	146	150					3																	31774813		2203	4300	6503	SO:0001583	missense	0			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.1031A>T	3.37:g.31774813T>A	ENSP00000379804:p.Asn344Ile		B4E212|Q9BTU5	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N344I	ENST00000396556.2	37	c.1031	CCDS2651.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.55|14.55	2.568242|2.568242	0.45798|0.45798	.|.	.|.	ENSG00000144645|ENSG00000144645	ENST00000396556;ENST00000438237;ENST00000428241|ENST00000429492	T;T;T|.	0.47177|.	1.91;2.24;0.85|.	5.66|5.66	2.09|2.09	0.27110|0.27110	.|.	0.833683|.	0.11600|.	N|.	0.547818|.	T|T	0.54806|0.54806	0.1881|0.1881	L|L	0.47716|0.47716	1.5|1.5	0.36310|0.36310	D|D	0.857604|0.857604	B;B;B|.	0.30686|.	0.29;0.19;0.047|.	B;B;B|.	0.28849|.	0.095;0.093;0.08|.	T|T	0.58216|0.58216	-0.7675|-0.7675	10|5	0.62326|.	D|.	0.03|.	-26.6136|-26.6136	8.8606|8.8606	0.35256|0.35256	0.0:0.2244:0.0:0.7756|0.0:0.2244:0.0:0.7756	.|.	280;344;112|.	B4E212;Q9BXB5;Q59ED9|.	.;OSB10_HUMAN;.|.	I|S	344;280;152|113	ENSP00000379804:N344I;ENSP00000406124:N280I;ENSP00000399200:N152I|.	ENSP00000379804:N344I|.	N|T	-|-	2|1	0|0	OSBPL10|OSBPL10	31749817|31749817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.575000|0.575000	0.23729|0.23729	0.983000|0.983000	0.38602|0.38602	0.454000|0.454000	0.30748|0.30748	AAC|ACA	OSBPL10	-	NULL	ENSG00000144645		0.493	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL10	HGNC	protein_coding	OTTHUMT00000253165.2	-	0	86	0	T			31774813	-1	tier1	-	no_errors	ENST00000396556	ensembl	human	known	74_37	missense	5.21	91	5	SNP	1.000	A	A	31774813	T	A	31774813	3	1	133	1	0	0	0	0	1	0	0	0	11314	1725	60	5	1291	5	OSBPL10	3	31774813	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	4388968	31774813	166247617	103	34025											
WDR6	11180	genome.wustl.edu	37	chr3	49051447	49051447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccagcaccccaagccGcctcgcctgccatgtcatgc	7	5	9	20	2	1	0	1	0	0	0	2	1	1	1	8	1	4	1	8	1	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:49051447G>T	ENST00000608424.1	+	2	2519	c.2480G>T	c.(2479-2481)cGc>cTc	p.R827L	WDR6_ENST00000448293.1_Missense_Mutation_p.R776L|WDR6_ENST00000415265.2_Missense_Mutation_p.R275L|WDR6_ENST00000395474.3_Missense_Mutation_p.R857L			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	827					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)		ACCCCAAGCCGCCTCGCCTGC	0.622											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													52	48	49					3																	49051447		2203	4300	6503	SO:0001583	missense	0			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.2480G>T	3.37:g.49051447G>T	ENSP00000477389:p.Arg827Leu	959	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R857L	ENST00000608424.1	37	c.2570		3	.	.	.	.	.	.	.	.	.	.	G	9.800	1.180395	0.21787	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.72942	0.2;-0.7;-0.7	5.24	3.32	0.38043	WD40 repeat-like-containing domain (1);	0.466636	0.24429	N	0.038607	T	0.53514	0.1801	N	0.22421	0.69	0.09310	N	1	B;B;B	0.17667	0.007;0.023;0.023	B;B;B	0.19148	0.008;0.018;0.024	T	0.37865	-0.9687	10	0.23891	T	0.37	-9.6317	10.7612	0.46266	0.0771:0.2071:0.7158:0.0	.	275;827;776	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	L	857;275;776	ENSP00000378857:R857L;ENSP00000412195:R275L;ENSP00000413432:R776L	ENSP00000378857:R857L	R	+	2	0	WDR6	49026451	0.001000	0.12720	0.983000	0.44433	0.896000	0.52359	1.115000	0.31209	1.346000	0.45694	0.561000	0.74099	CGC	WDR6	-	superfamily_WD40_repeat_dom	ENSG00000178252		0.622	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1		0	49	0	G			49051447	1			no_errors	ENST00000395474	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.008	T	T	49051447	G	T	49051447	3	4	133	1	0	0	0	0	1	0	0	0	17359	1087	38	2	2576	2	WDR6	3	49051447	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	17276634	49051447	148970983	104	34026											
LAMB2	3913	genome.wustl.edu	37	chr3	49161855	49161855	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggtggggcctctggcccgGcttgggtggcaggcacaagg	5	6	19	11	1	1	0	0	0	1	0	1	0	1	0	2	9	0	3	2	9	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:49161855G>A	ENST00000418109.1	-	23	3464	c.3300C>T	c.(3298-3300)agC>agT	p.S1100S	LAMB2_ENST00000305544.4_Silent_p.S1100S|LAMB2_ENST00000464891.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1100	Laminin EGF-like 12. {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)		CTCTGGCCCGGCTTGGGTGGC	0.627																																																	0													36	38	38					3																	49161855		2203	4300	6503	SO:0001819	synonymous_variant	0				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.3300C>T	3.37:g.49161855G>A			Q16321	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S1100	ENST00000418109.1	37	c.3300	CCDS2789.1	3																																																																																			LAMB2	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000172037		0.627	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	-	0	50	0	G	NM_002292		49161855	-1	tier1	-	no_errors	ENST00000305544	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.997	A	A	49161855	G	A	49161855	2	1	133	1	0	0	0	0	0	0	0	1	8639	1194	42	3		3	LAMB2	3	49161855	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	110408	49161855	148860575	105	34027											
RRP9	9136	genome.wustl.edu	37	chr3	51969420	51969420	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacacgtacagtcccatcCcggcccccagccgtcacaca	10	4	6	21	3	1	0	1	0	0	0	3	0	3	0	5	1	2	1	5	1	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:51969420C>A	ENST00000232888.6	-	10	982	c.909G>T	c.(907-909)cgG>cgT	p.R303R		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	303					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CAGTCCCATCCCGGCCCCCAG	0.637																																																	0													46	45	46					3																	51969420		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.909G>T	3.37:g.51969420C>A			B2R996|Q8IZ30	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R303	ENST00000232888.6	37	c.909	CCDS2837.1	3																																																																																			RRP9	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000114767		0.637	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP9	HGNC	protein_coding	OTTHUMT00000346637.1	-	0	43	0	C	NM_004704		51969420	-1	tier1	-	no_errors	ENST00000232888	ensembl	human	known	74_37	silent	9.43	48	5	SNP	1.000	A	A	51969420	C	A	51969420	2	1	133	1	0	0	0	0	0	0	0	1	13736	610	22	3		3	RRP9	3	51969420	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2807565	51969420	146053010	106	34028											
CACNA1D	776	genome.wustl.edu	37	chr3	53766862	53766862	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggggaagaggaagaggaaGaggaggaggatgaacctgag	16	3	20	2	0	0	5	0	2	0	3	0	11	0	11	1	7	1	0	1	7	5	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:53766862G>T	ENST00000350061.5	+	19	3005	c.2494G>T	c.(2494-2496)Gag>Tag	p.E832*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E832*|CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.E852*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	832	Poly-Glu.				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)	ggaagaggaagaggaggagga	0.433																																																	0													58	64	62					3																	53766862		2203	4300	6503	SO:0001587	stop_gained	0			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.2494G>T	3.37:g.53766862G>T	ENSP00000288133:p.Glu832*		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.E852*	ENST00000350061.5	37	c.2554	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.245214	0.99111	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.	.	.	5.35	5.35	0.76521	.	1.827820	0.02366	N	0.077320	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	19.4362	0.94796	0.0:0.0:1.0:0.0	.	.	.	.	X	832;852;832;525	.	ENSP00000288139:E852X	E	+	1	0	CACNA1D	53741902	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.774000	0.85478	2.663000	0.90544	0.655000	0.94253	GAG	CACNA1D	-	NULL	ENSG00000157388		0.433	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	-	0	65	0	G	NM_000720		53766862	1	tier1	-	no_errors	ENST00000288139	ensembl	human	known	74_37	nonsense	6.94	67	5	SNP	1.000	T	T	53766862	G	T	53766862	4	4	133	1	0	0	0	0	0	1	0	0	2548	943	33	3	2740	3	CACNA1D	3	53766862	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1797442	53766862	144255568	107	34029											
OR5H1	26341	genome.wustl.edu	37	chr3	97851625	97851625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtggaaaatacccctgttCctggcattcttggtaatata	11	13	8	9	0	1	0	0	0	1	0	2	1	2	1	3	3	1	3	3	3	6	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:97851625C>G	ENST00000354565.2	+	1	84	c.84C>G	c.(82-84)ttC>ttG	p.F28L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	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)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TACCCCTGTTCCTGGCATTCT	0.433																																																	0													46	50	49					3																	97851625		2162	4201	6363	SO:0001583	missense	0			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.84C>G	3.37:g.97851625C>G	ENSP00000346575:p.Phe28Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F28L	ENST00000354565.2	37	c.84	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858137	0.32791	.	.	ENSG00000231192	ENST00000354565	T	0.04454	3.62	3.63	2.75	0.32379	.	0.000000	0.44902	D	0.000420	T	0.10637	0.0260	M	0.83483	2.645	0.22541	N	0.999002	P	0.50943	0.94	P	0.48304	0.573	T	0.11690	-1.0577	10	0.59425	D	0.04	.	5.5276	0.16967	0.0:0.7439:0.0:0.2561	.	28	A6NKK0	OR5H1_HUMAN	L	28	ENSP00000346575:F28L	ENSP00000346575:F28L	F	+	3	2	OR5H1	99334315	0.000000	0.05858	0.915000	0.36163	0.300000	0.27592	-1.413000	0.02473	0.717000	0.32145	0.195000	0.17529	TTC	OR5H1	-	prints_GPCR_Rhodpsn	ENSG00000231192		0.433	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	-	0	112	0	C	NM_001005338		97851625	1	tier1	-	no_errors	ENST00000354565	ensembl	human	known	74_37	missense	7.19	129	10	SNP	0.794	G	G	97851625	C	G	97851625	3	3	133	1	0	0	0	0	1	0	0	0	11198	854	30	5	86	5	OR5H1	3	97851625	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	44084763	97851625	100170805	108	34030											
CD200R1L	344807	genome.wustl.edu	37	chr3	112545840	112545840	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagaaacaggcgcttacCtgaattcaactttacggaca	15	9	7	10	2	1	2	1	1	0	1	1	3	1	3	1	2	5	1	1	2	7	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:112545840C>G	ENST00000398214.1	-	4	904	c.679G>C	c.(679-681)Ggt>Cgt	p.G227R	CD200R1L_ENST00000488794.1_Splice_Site_p.G206R|CD200R1L_ENST00000448932.1_Splice_Site_p.G206R	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	227						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AGGCGCTTACCTGAATTCAAC	0.433																																																	0													64	67	66					3																	112545840		2172	4295	6467	SO:0001630	splice_region_variant	0			AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.679+1G>C	3.37:g.112545840C>G			Q6WHB7	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like_dom	p.G227R	ENST00000398214.1	37	c.679	CCDS43131.1	3	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135518	0.37728	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.19669	2.13;2.16;2.16	3.6	1.62	0.23740	.	1.862370	0.02632	N	0.104408	T	0.26122	0.0637	L	0.55990	1.75	0.09310	N	1	P	0.45902	0.868	P	0.45506	0.483	T	0.09862	-1.0655	9	.	.	.	.	4.0427	0.09758	0.2227:0.6414:0.0:0.1359	.	227	Q6Q8B3	MO2R2_HUMAN	R	227;206;206	ENSP00000381272:G227R;ENSP00000418413:G206R;ENSP00000415132:G206R	.	G	-	1	0	CD200R1L	114028530	0.434000	0.25570	0.005000	0.12908	0.059000	0.15707	0.624000	0.24462	0.239000	0.21243	0.655000	0.94253	GGT	CD200R1L	-	NULL	ENSG00000206531		0.433	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD200R1L	HGNC	protein_coding	OTTHUMT00000354365.1	-	0	56	0	C	NM_001008784	Missense_Mutation	112545840	-1	tier1	-	no_errors	ENST00000398214	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.014	G	G	112545840	C	G	112545840	5	3	133	1	0	0	0	0	0	0	1	0	2989	695	24	5	148	5	CD200R1L	3	112545840	Splice_Site	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	14694215	112545840	85476590	109	34031											
GRAMD1C	54762	genome.wustl.edu	37	chr3	113627935	113627935	+	Missense_Mutation	SNP	A	A	G	1	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	aaatgaatatctttctctggAcaaaagcagcacttcagatt	15	12	6	8	0	3	2	1	1	2	1	4	3	3	3	0	1	2	2	0	1	5	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:113627935A>G	ENST00000358160.4	+	9	1412	c.920A>G	c.(919-921)gAc>gGc	p.D307G	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D102G|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D140G|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.T7A	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	307						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CTTTCTCTGGACAAAAGCAGC	0.299																																																	0													66	71	69					3																	113627935		2203	4300	6503	SO:0001583	missense	0				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.920A>G	3.37:g.113627935A>G	ENSP00000350881:p.Asp307Gly		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.D307G	ENST00000358160.4	37	c.920	CCDS33826.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.30|15.30	2.791908|2.791908	0.50102|0.50102	.|.	.|.	ENSG00000178075|ENSG00000178075	ENST00000358160;ENST00000472026;ENST00000462838;ENST00000440446|ENST00000452134;ENST00000488680	T;T;T|T	0.58506|0.44482	0.88;0.47;0.33|0.92	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.424586|.	0.27231|.	N|.	0.020303|.	T|T	0.57110|0.57110	0.2031|0.2031	M|M	0.72353|0.72353	2.195|2.195	0.24320|0.24320	N|N	0.995045|0.995045	B;B|.	0.21753|.	0.06;0.012|.	B;B|.	0.22601|.	0.04;0.006|.	T|T	0.54794|0.54794	-0.8240|-0.8240	10|7	0.48119|0.87932	T|D	0.1|0	.|.	14.6551|14.6551	0.68828|0.68828	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	140;307|.	E9PHT3;Q8IYS0|.	.;GRM1C_HUMAN|.	G|A	307;140;102;102|7	ENSP00000350881:D307G;ENSP00000419132:D140G;ENSP00000408135:D102G|ENSP00000399844:T7A	ENSP00000350881:D307G|ENSP00000399844:T7A	D|T	+|+	2|1	0|0	GRAMD1C|GRAMD1C	115110625|115110625	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.951000|0.951000	0.60555|0.60555	5.563000|5.563000	0.67352|0.67352	2.159000|2.159000	0.67721|0.67721	0.455000|0.455000	0.32223|0.32223	GAC|ACA	GRAMD1C	-	NULL	ENSG00000178075		0.299	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	HGNC	protein_coding	OTTHUMT00000354733.1	-	0	58	0	A	NM_017577		113627935	1	tier1	-	no_errors	ENST00000358160	ensembl	human	known	74_37	missense	5.56	102	6	SNP	0.987	G	G	113627935	A	G	113627935	3	3	133	1	0	0	0	0	1	0	0	0	6776	275	10	4	954	4	GRAMD1C	3	113627935	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	1082095	113627935	84394495	110	34032											
NPHP3	27031	genome.wustl.edu	37	chr3	132441160	132441160	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacgtgtcctcgatcacttCcccgcccgcggggctcacga	5	8	11	17	6	2	0	2	0	0	0	5	2	4	0	4	2	1	2	4	2	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:132441160C>A	ENST00000337331.5	-	1	126	c.40G>T	c.(40-42)Gaa>Taa	p.E14*	NPHP3_ENST00000383282.2_Nonsense_Mutation_p.E14*|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000343113.4_Nonsense_Mutation_p.E14*|NPHP3-AS1_ENST00000504440.1_RNA|NPHP3_ENST00000326682.8_Nonsense_Mutation_p.E14*	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	14					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGATCACTTCCCCGCCCGCG	0.706																																																	0													11	13	12					3																	132441160		1842	3706	5548	SO:0001587	stop_gained	0			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.40G>T	3.37:g.132441160C>A	ENSP00000338766:p.Glu14*		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Nonsense_Mutation	SNP	pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E14*	ENST00000337331.5	37	c.40	CCDS3078.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214550	0.79352	.	.	ENSG00000113971	ENST00000326682;ENST00000337331;ENST00000343113;ENST00000383282	.	.	.	3.58	3.58	0.41010	.	0.129031	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-17.0516	15.3629	0.74496	0.0:1.0:0.0:0.0	.	.	.	.	X	14	.	ENSP00000319909:E14X	E	-	1	0	NPHP3	133923850	1.000000	0.71417	0.989000	0.46669	0.082000	0.17680	6.730000	0.74780	1.981000	0.57761	0.500000	0.49745	GAA	NPHP3	-	NULL	ENSG00000113971		0.706	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2	-	0	21	0	C	NM_153240		132441160	-1	tier1	-	no_errors	ENST00000337331	ensembl	human	known	74_37	nonsense	19.05	17	4	SNP	1.000	A	A	132441160	C	A	132441160	4	1	133	1	0	0	0	0	0	1	0	0	10619	864	30	3	4060	3	NPHP3	3	132441160	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	18813225	132441160	65581270	111	34033											
CHST2	9435	genome.wustl.edu	37	chr3	142840873	142840873	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatagtatggctaagacGctgcagacagccctgcagcc	11	7	11	12	1	0	2	0	0	0	2	0	2	0	2	2	1	5	6	2	1	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:142840873G>T	ENST00000309575.3	+	2	2599	c.1215G>T	c.(1213-1215)acG>acT	p.T405T		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	405					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TGGCTAAGACGCTGCAGACAG	0.647																																																	0													42	50	48					3																	142840873		2202	4299	6501	SO:0001819	synonymous_variant	0			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1215G>T	3.37:g.142840873G>T			D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.T405	ENST00000309575.3	37	c.1215	CCDS3129.1	3																																																																																			CHST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000175040		0.647	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST2	HGNC	protein_coding	OTTHUMT00000354850.1	-	0	43	0	G	NM_004267		142840873	1	tier1	-	no_errors	ENST00000309575	ensembl	human	known	74_37	silent	15.38	44	8	SNP	0.991	T	T	142840873	G	T	142840873	2	4	133	1	0	0	0	0	0	0	0	1	3411	1074	38	2		2	CHST2	3	142840873	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	10399713	142840873	55181557	112	34034											
SIAH2	6478	genome.wustl.edu	37	chr3	150460351	150460351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtgcatgagatgggacatCacagcttccagggacccctg	9	7	13	12	1	1	1	1	1	0	1	2	4	2	3	3	2	2	2	3	2	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:150460351C>T	ENST00000312960.3	-	2	1079	c.552G>A	c.(550-552)gtG>gtA	p.V184V		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	184	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)			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)			GATGGGACATCACAGCTTCCA	0.522																																																	0													123	110	114					3																	150460351		2203	4300	6503	SO:0001819	synonymous_variant	0			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.552G>A	3.37:g.150460351C>T			O43270	Silent	SNP	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH	p.V184	ENST00000312960.3	37	c.552	CCDS3152.1	3																																																																																			SIAH2	-	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_SIAH	ENSG00000181788		0.522	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAH2	HGNC	protein_coding	OTTHUMT00000357697.1	-	0	76	0	C	NM_005067		150460351	-1	tier1	-	no_errors	ENST00000312960	ensembl	human	known	74_37	silent	8.18	101	9	SNP	1.000	T	T	150460351	C	T	150460351	2	4	133	1	0	0	0	0	0	0	0	1	14345	813	29	3		3	SIAH2	3	150460351	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	7619478	150460351	47562079	113	34035											
P2RY13	53829	genome.wustl.edu	37	chr3	151046747	151046747	+	Missense_Mutation	SNP	A	A	T	1	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	gtctctggggcaccgctcagAtctgttgaagccttgcatca	7	11	11	12	1	4	2	2	1	2	1	5	2	4	2	2	2	2	4	2	2	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:151046747A>T	ENST00000325602.5	-	2	116	c.97T>A	c.(97-99)Tct>Act	p.S33T	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	33					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CACCGCTCAGATCTGTTGAAG	0.458																																																	0													117	112	113					3																	151046747		2203	4300	6503	SO:0001583	missense	0			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.97T>A	3.37:g.151046747A>T	ENSP00000320376:p.Ser33Thr		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S33T	ENST00000325602.5	37	c.97	CCDS3158.2	3	.	.	.	.	.	.	.	.	.	.	A	10.07	1.249882	0.22880	.	.	ENSG00000181631	ENST00000325602	T	0.37058	1.22	5.77	5.77	0.91146	.	0.053680	0.85682	D	0.000000	T	0.20981	0.0505	N	0.08118	0	0.43750	D	0.996255	B	0.22146	0.065	B	0.16289	0.015	T	0.08576	-1.0715	10	0.20519	T	0.43	-22.7377	16.0985	0.81148	1.0:0.0:0.0:0.0	.	33	Q9BPV8	P2Y13_HUMAN	T	33	ENSP00000320376:S33T	ENSP00000320376:S33T	S	-	1	0	P2RY13	152529437	0.998000	0.40836	0.964000	0.40570	0.214000	0.24535	4.433000	0.59929	2.197000	0.70478	0.455000	0.32223	TCT	P2RY13	-	prints_P2Y13_rcpt	ENSG00000181631		0.458	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1		0	57	0	A	NM_023914		151046747	-1			no_errors	ENST00000325602	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.989	T	T	151046747	A	T	151046747	3	4	133	1	0	0	0	0	1	0	0	0	11389	333	12	5	971	5	P2RY13	3	151046747	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	586396	151046747	46975683	114	34036											
SCHIP1	100505385	genome.wustl.edu	37	chr3	159606731	159606731	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctccattcccagatagaAagtaagtgtaagatatgctt	14	12	8	7	0	1	3	0	0	1	3	3	4	2	3	2	0	1	3	2	0	5	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:159606731A>G	ENST00000460298.1	+	6	1438	c.1197A>G	c.(1195-1197)gaA>gaG	p.E399E	SCHIP1_ENST00000482804.1_Splice_Site_p.E212E|IQCJ-SCHIP1_ENST00000527095.1_Splice_Site_p.E207E|IQCJ-SCHIP1_ENST00000412423.2_Splice_Site_p.E426E|IQCJ-SCHIP1_ENST00000476809.1_Splice_Site_p.E488E|IQCJ-SCHIP1_ENST00000485419.1_Splice_Site_p.E515E|SCHIP1_ENST00000445224.2_Splice_Site_p.E196E|IQCJ-SCHIP1_ENST00000337808.6_Splice_Site_p.E439E					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CCCAGATAGAAAGTAAGTGTA	0.368																																																	0													102	94	97					3																	159606731		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.1198+1A>G	3.37:g.159606731A>G				Silent	SNP	pfam_SCHIP_1	p.E515	ENST00000460298.1	37	c.1545		3																																																																																			IQCJ-SCHIP1	-	pfam_SCHIP_1	ENSG00000250588		0.368	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	IQCJ-SCHIP1	HGNC	protein_coding	OTTHUMT00000352558.2	-	0	82	0	A	NM_001197113	Silent	159606731	1	tier1	-	no_errors	ENST00000485419	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	G	G	159606731	A	G	159606731	5	3	133	1	0	0	0	0	0	0	1	0	13949	28	1	4	1339	4	SCHIP1	3	159606731	Splice_Site	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	8559984	159606731	38415699	115	34037											
OTOL1	131149	genome.wustl.edu	37	chr3	161216961	161216961	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttaaaatcccatttctaggtCctaaaggagaggctggaaat	14	11	9	7	0	1	1	0	0	1	1	3	3	3	2	2	4	0	1	2	4	6	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:161216961C>G	ENST00000327928.4	+	2	367	c.367C>G	c.(367-369)Cct>Gct	p.P123A		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	123	Collagen-like 1.					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						ATTTCTAGGTCCTAAAGGAGA	0.393																																																	0													33	32	33					3																	161216961		1802	4069	5871	SO:0001583	missense	0				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.367C>G	3.37:g.161216961C>G	ENSP00000330808:p.Pro123Ala			Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.P123A	ENST00000327928.4	37	c.367	CCDS46948.1	3	.	.	.	.	.	.	.	.	.	.	C	0.361	-0.939128	0.02322	.	.	ENSG00000182447	ENST00000327928	D	0.97642	-4.47	5.55	-1.1	0.09872	.	0.677754	0.15200	N	0.275063	D	0.90463	0.7013	N	0.17312	0.475	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.79482	-0.1785	10	0.16420	T	0.52	.	8.7599	0.34667	0.0:0.5166:0.2914:0.1921	.	123	A6NHN0	OTOL1_HUMAN	A	123	ENSP00000330808:P123A	ENSP00000330808:P123A	P	+	1	0	OTOL1	162699655	0.051000	0.20477	0.231000	0.23993	0.393000	0.30537	0.285000	0.18883	-0.502000	0.06596	-1.938000	0.00498	CCT	OTOL1	-	pfam_Collagen	ENSG00000182447		0.393	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	HGNC	protein_coding	OTTHUMT00000353184.1	-	0	107	0	C	NM_001080440		161216961	1	tier1	-	no_errors	ENST00000327928	ensembl	human	known	74_37	missense	6.40	117	8	SNP	0.066	G	G	161216961	C	G	161216961	3	3	133	1	0	0	0	0	1	0	0	0	11343	855	30	5	373	5	OTOL1	3	161216961	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1610230	161216961	36805469	116	34038											
SAMD7	344658	genome.wustl.edu	37	chr3	169639075	169639075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcccaatttggatcctctGttctaccaaacacaaatatg	12	13	4	12	0	2	0	0	0	2	0	4	1	4	1	3	1	2	1	3	1	5	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:169639075G>T	ENST00000428432.2	+	4	549	c.160G>T	c.(160-162)Gtt>Ttt	p.V54F	SAMD7_ENST00000335556.3_Missense_Mutation_p.V54F	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	54										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGATCCTCTGTTCTACCAAA	0.413																																																	0													157	137	144					3																	169639075		2203	4300	6503	SO:0001583	missense	0			BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"Sterile alpha motif (SAM) domain containing"	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.160G>T	3.37:g.169639075G>T	ENSP00000391299:p.Val54Phe			Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V54F	ENST00000428432.2	37	c.160	CCDS3209.1	3	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925334	0.34002	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.51574	0.7;0.7	5.85	4.03	0.46877	.	0.549745	0.18449	N	0.140892	T	0.43411	0.1246	L	0.34521	1.04	0.19575	N	0.999968	D	0.54397	0.966	P	0.49665	0.618	T	0.20505	-1.0273	10	0.42905	T	0.14	-4.3905	9.6211	0.39721	0.0743:0.1411:0.7846:0.0	.	54	Q7Z3H4	SAMD7_HUMAN	F	54	ENSP00000391299:V54F;ENSP00000334668:V54F	ENSP00000334668:V54F	V	+	1	0	SAMD7	171121769	0.926000	0.31397	0.153000	0.22517	0.401000	0.30781	1.269000	0.33074	0.909000	0.36697	0.655000	0.94253	GTT	SAMD7	-	NULL	ENSG00000187033		0.413	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD7	HGNC	protein_coding	OTTHUMT00000351959.1	-	0	77	0	G	NM_182610		169639075	1	tier1	-	no_errors	ENST00000335556	ensembl	human	known	74_37	missense	18.97	94	22	SNP	0.358	T	T	169639075	G	T	169639075	3	4	133	1	0	0	0	0	1	0	0	0	13869	1377	48	3	166	3	SAMD7	3	169639075	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	8422114	169639075	28383355	117	34039											
HTR3C	170572	genome.wustl.edu	37	chr3	183777335	183777335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcagagagcgagaatCgtgccccattcaagataaca	14	6	10	11	2	1	3	1	0	0	3	2	5	1	3	3	0	5	1	3	0	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:183777335C>A	ENST00000318351.1	+	7	866	c.832C>A	c.(832-834)Cgt>Agt	p.R278S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	278					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)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GAGCGAGAATCGTGCCCCATT	0.547																																																	0													161	142	148					3																	183777335		2203	4300	6503	SO:0001583	missense	0			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.832C>A	3.37:g.183777335C>A	ENSP00000322617:p.Arg278Ser		A2RRR5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.R278S	ENST00000318351.1	37	c.832	CCDS3250.1	3	.	.	.	.	.	.	.	.	.	.	.	10.27	1.304310	0.23736	.	.	ENSG00000178084	ENST00000318351	D	0.88586	-2.4	4.01	1.19	0.21007	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.133396	0.49305	N	0.000150	D	0.91713	0.7380	M	0.86097	2.795	0.09310	N	1	P	0.52316	0.952	P	0.60286	0.872	D	0.83820	0.0246	10	0.87932	D	0	.	3.1778	0.06575	0.3653:0.4275:0.0:0.2072	.	278	Q8WXA8	5HT3C_HUMAN	S	278	ENSP00000322617:R278S	ENSP00000322617:R278S	R	+	1	0	HTR3C	185260029	0.004000	0.15560	0.000000	0.03702	0.012000	0.07955	0.289000	0.18957	0.045000	0.15804	0.655000	0.94253	CGT	HTR3C	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000178084		0.547	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3C	HGNC	protein_coding	OTTHUMT00000346296.1	-	0	80	0	C	NM_130770		183777335	1	tier1	-	no_errors	ENST00000318351	ensembl	human	known	74_37	missense	6.03	109	7	SNP	0.002	A	A	183777335	C	A	183777335	3	1	133	1	0	0	0	0	1	0	0	0	7473	884	31	2	858	2	HTR3C	3	183777335	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	14138260	183777335	14245095	118	34040											
ATP13A5	344905	genome.wustl.edu	37	chr3	193052744	193052744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaacgactgctcgtacaGgcccctgcccagagggcttg	9	6	12	14	2	0	1	0	0	0	1	1	2	0	1	3	2	4	4	3	2	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr3:193052744G>T	ENST00000342358.4	-	10	1205	c.1088C>A	c.(1087-1089)cCt>cAt	p.P363H		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	363						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGCTCGTACAGGCCCCTGCCC	0.433																																																	0													109	108	108					3																	193052744		2203	4300	6503	SO:0001583	missense	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1088C>A	3.37:g.193052744G>T	ENSP00000341942:p.Pro363His		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.P363H	ENST00000342358.4	37	c.1088	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925378	0.52759	.	.	ENSG00000187527	ENST00000342358	D	0.90004	-2.6	5.87	4.99	0.66335	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.371203	0.26156	N	0.026017	D	0.90734	0.7092	L	0.48986	1.54	0.31328	N	0.685126	D	0.53312	0.959	P	0.59115	0.852	D	0.88885	0.3342	10	0.25751	T	0.34	-3.2339	14.1771	0.65549	0.0732:0.0:0.9268:0.0	.	363	Q4VNC0	AT135_HUMAN	H	363	ENSP00000341942:P363H	ENSP00000341942:P363H	P	-	2	0	ATP13A5	194535438	1.000000	0.71417	0.940000	0.37924	0.605000	0.37080	3.883000	0.56168	1.468000	0.48064	0.655000	0.94253	CCT	ATP13A5	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000187527		0.433	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	-	0	59	0	G	NM_198505		193052744	-1	tier1	-	no_errors	ENST00000342358	ensembl	human	known	74_37	missense	42.05	51	37	SNP	0.985	T	T	193052744	G	T	193052744	3	4	133	1	0	0	0	0	1	0	0	0	1128	1000	35	3	2650	3	ATP13A5	3	193052744	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	9275409	193052744	4969686	119	34041											
KIAA1530	57654	genome.wustl.edu	37	chr4	1343540	1343540	+	Silent	SNP	G	G	T																															agggaggcggcacagaggctGaggcaggcgaccacccgggc																										TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:1343540G>T	ENST00000389851.4	+	3	774	c.327G>T	c.(325-327)ctG>ctT	p.L109L	UVSSA_ENST00000507531.1_Silent_p.L109L|UVSSA_ENST00000511216.1_Silent_p.L109L	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	109	VHS-like.				protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CACAGAGGCTGAGGCAGGCGA	0.607																																																	0													25	30	29					4																	1343540		2203	4300	6503	SO:0001819	synonymous_variant	0			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.327G>T	4.37:g.1343540G>T			A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	pfam_DUF2043,superfamily_ENTH_VHS	p.L109	ENST00000389851.4	37	c.327	CCDS33938.1	4																																																																																			UVSSA	-	superfamily_ENTH_VHS	ENSG00000163945		0.607	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVSSA	HGNC	protein_coding	OTTHUMT00000359480.1	-	0	45	0	G	NM_020894		1343540	1	tier1	-	no_errors	ENST00000389851	ensembl	human	known	74_37	silent	20.34	46	12	SNP	1.000	T	T	1343540	G	T	1343540	2	4	133	1	0	0	0	0	0	0	0	1	8268	1277	45	3		3	KIAA1530	4	1343540	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09		1343540	189810736	120	34042	127	2									
KIAA1530	57654	genome.wustl.edu	37	chr4	1343542	1343542	+	Missense_Mutation	SNP	G	G	T																															ggaggcggcacagaggctgaGgcaggcgaccacccgggccg																										TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:1343542G>T	ENST00000389851.4	+	3	776	c.329G>T	c.(328-330)aGg>aTg	p.R110M	UVSSA_ENST00000507531.1_Missense_Mutation_p.R110M|UVSSA_ENST00000511216.1_Missense_Mutation_p.R110M	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	110	VHS-like.				protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CAGAGGCTGAGGCAGGCGACC	0.602																																																	0													25	31	29					4																	1343542		2203	4300	6503	SO:0001583	missense	0			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.329G>T	4.37:g.1343542G>T	ENSP00000374501:p.Arg110Met		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	pfam_DUF2043,superfamily_ENTH_VHS	p.R110M	ENST00000389851.4	37	c.329	CCDS33938.1	4	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157509	0.57368	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.24908	1.83;1.83;1.83	4.89	1.7	0.24286	.	0.198102	0.51477	D	0.000091	T	0.45296	0.1335	M	0.81239	2.535	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.40175	-0.9577	10	0.87932	D	0	.	7.4309	0.27126	0.4867:0.0:0.5133:0.0	.	110	Q2YD98	K1530_HUMAN	M	110	ENSP00000425130:R110M;ENSP00000374501:R110M;ENSP00000421741:R110M	ENSP00000374501:R110M	R	+	2	0	KIAA1530	1333542	1.000000	0.71417	0.998000	0.56505	0.763000	0.43281	2.082000	0.41605	0.489000	0.27749	0.591000	0.81541	AGG	UVSSA	-	superfamily_ENTH_VHS	ENSG00000163945		0.602	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVSSA	HGNC	protein_coding	OTTHUMT00000359480.1	-	0	47	0	G	NM_020894		1343542	1	tier1	-	no_errors	ENST00000389851	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	T	T	1343542	G	T	1343542	3	4	133	1	0	0	0	0	1	0	0	0	8268	1000	35	3	335	3	KIAA1530	4	1343542	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2	1343542	189810734	121	34043	127	2									
STK32B	55351	genome.wustl.edu	37	chr4	5448434	5448434	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgtacatggacagaggCcccggatactcgtaccctgt	9	8	12	12	2	0	1	0	0	0	1	1	3	0	3	3	4	3	2	3	4	3	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:5448434C>G	ENST00000282908.5	+	7	1019	c.597C>G	c.(595-597)ggC>ggG	p.G199G	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Silent_p.G152G|STK32B_ENST00000512636.1_Silent_p.G122G	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TGGACAGAGGCCCCGGATACT	0.567																																																	0													90	82	85					4																	5448434		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.597C>G	4.37:g.5448434C>G				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G199	ENST00000282908.5	37	c.597	CCDS3380.1	4																																																																																			STK32B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000152953		0.567	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32B	HGNC	protein_coding	OTTHUMT00000206854.4	-	0	80	0	C	NM_018401		5448434	1	tier1	-	no_errors	ENST00000282908	ensembl	human	known	74_37	silent	12.86	61	9	SNP	1.000	G	G	5448434	C	G	5448434	2	3	133	1	0	0	0	0	0	0	0	1	15345	726	26	5		5	STK32B	4	5448434	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	4104892	5448434	185705842	122	34044											
GPR78	27201	genome.wustl.edu	37	chr4	8583004	8583004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcggcgctgagcgtggcgGcgctgagcgcagaccagtgg	6	4	19	12	7	0	3	0	2	0	1	0	3	0	3	1	4	2	3	1	4	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:8583004G>T	ENST00000382487.4	+	1	712	c.295G>T	c.(295-297)Gcg>Tcg	p.A99S	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	99					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						GAGCGTGGCGGCGCTGAGCGC	0.721																																																	0													8	9	9					4																	8583004		2170	4250	6420	SO:0001583	missense	0			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.295G>T	4.37:g.8583004G>T	ENSP00000371927:p.Ala99Ser		Q8NGV3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A99S	ENST00000382487.4	37	c.295	CCDS3403.1	4	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825299	0.71143	.	.	ENSG00000155269	ENST00000382487	T	0.43688	0.94	2.41	0.521	0.17046	GPCR, rhodopsin-like superfamily (1);	0.076200	0.51477	U	0.000091	T	0.53498	0.1800	L	0.57536	1.79	0.37539	D	0.918236	D	0.89917	1.0	D	0.85130	0.997	T	0.52094	-0.8621	10	0.59425	D	0.04	.	7.3276	0.26563	0.2198:0.0:0.7802:0.0	.	99	Q96P69	GPR78_HUMAN	S	99	ENSP00000371927:A99S	ENSP00000371927:A99S	A	+	1	0	GPR78	8633904	0.997000	0.39634	0.004000	0.12327	0.834000	0.47266	5.119000	0.64679	-0.516000	0.06470	0.313000	0.20887	GCG	GPR78	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000155269		0.721	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	HGNC	protein_coding	OTTHUMT00000359201.1		0	14	0	G			8583004	1			no_errors	ENST00000382487	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.998	T	T	8583004	G	T	8583004	3	4	133	1	0	0	0	0	1	0	0	0	6736	1203	42	3	297	3	GPR78	4	8583004	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3134570	8583004	182571272	123	34045											
UGDH	7358	genome.wustl.edu	37	chr4	39512441	39512441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacttcagatctgctgccCggcctttccccattccatag	7	13	6	15	1	2	1	1	0	1	1	4	1	4	1	5	1	3	1	5	1	3	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:39512441C>A	ENST00000316423.6	-	4	647	c.305G>T	c.(304-306)cGg>cTg	p.R102L	UGDH_ENST00000506179.1_Missense_Mutation_p.R102L|UGDH_ENST00000501493.2_Intron|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000507089.1_Missense_Mutation_p.R5L	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	102					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						ATCTGCTGCCCGGCCTTTCCC	0.423																																																	0													113	105	108					4																	39512441		2203	4300	6503	SO:0001583	missense	0			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.305G>T	4.37:g.39512441C>A	ENSP00000319501:p.Arg102Leu		B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man	p.R102L	ENST00000316423.6	37	c.305	CCDS3455.1	4	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412642	0.83340	.	.	ENSG00000109814	ENST00000316423;ENST00000506179;ENST00000507089;ENST00000515021;ENST00000514106;ENST00000509391	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.95	5.12	0.69794	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	M	0.72118	2.19	0.80722	D	1	P	0.47545	0.897	B	0.42214	0.38	T	0.75972	-0.3129	10	0.29301	T	0.29	2.3829	14.1156	0.65151	0.0:0.9287:0.0:0.0713	.	102	O60701	UGDH_HUMAN	L	102;102;5;115;102;102	ENSP00000319501:R102L;ENSP00000421757:R102L;ENSP00000426560:R5L;ENSP00000421954:R115L;ENSP00000425834:R102L;ENSP00000422603:R102L	ENSP00000319501:R102L	R	-	2	0	UGDH	39188836	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.221000	0.78016	1.535000	0.49220	0.650000	0.86243	CGG	UGDH	-	pfam_UDP-Glc/GDP-Man_DH_N,tigrfam_UDP-Glc/GDP-Man	ENSG00000109814		0.423	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGDH	HGNC	protein_coding	OTTHUMT00000216818.3	-	0	47	0	C	NM_003359		39512441	-1	tier1	-	no_errors	ENST00000316423	ensembl	human	known	74_37	missense	9.52	76	8	SNP	1.000	A	A	39512441	C	A	39512441	3	1	133	1	0	0	0	0	1	0	0	0	16989	652	23	2	1215	2	UGDH	4	39512441	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	30929437	39512441	151641835	124	34046											
ATP10D	57205	genome.wustl.edu	37	chr4	47562981	47562981	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggtcatgagtgacactGaatatgcagagtggctgagg	11	9	15	6	1	1	5	1	4	0	1	1	5	1	5	0	3	1	3	0	3	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:47562981G>T	ENST00000273859.3	+	14	2826	c.2557G>T	c.(2557-2559)Gaa>Taa	p.E853*	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	853					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						GAGTGACACTGAATATGCAGA	0.413																																																	0													147	137	140					4																	47562981		2203	4300	6503	SO:0001587	stop_gained	0			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.2557G>T	4.37:g.47562981G>T	ENSP00000273859:p.Glu853*		A2RRC8|D6REN2|Q8NC70|Q96SR3	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E853*	ENST00000273859.3	37	c.2557	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	42	9.270416	0.99120	.	.	ENSG00000145246	ENST00000273859	.	.	.	5.11	5.11	0.69529	.	0.053482	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.0633	17.7053	0.88308	0.0:0.0:1.0:0.0	.	.	.	.	X	853	.	ENSP00000273859:E853X	E	+	1	0	ATP10D	47257738	1.000000	0.71417	0.936000	0.37596	0.514000	0.34195	8.412000	0.90232	2.665000	0.90641	0.655000	0.94253	GAA	ATP10D	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.413	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	-	0	75	0	G	NM_020453		47562981	1	tier1	-	no_errors	ENST00000273859	ensembl	human	known	74_37	nonsense	8.41	98	9	SNP	0.996	T	T	47562981	G	T	47562981	4	4	133	1	0	0	0	0	0	1	0	0	1119	1291	45	3	2607	3	ATP10D	4	47562981	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	8050540	47562981	143591295	125	34047											
FRYL	285527	genome.wustl.edu	37	chr4	48622744	48622744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaccagtcaaacaaggtgcGaagtaaggaagggagacagt	16	5	14	6	1	1	1	1	0	0	1	1	4	1	2	1	3	3	2	1	3	6	2	rs371083439		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:48622744G>A	ENST00000503238.1	-	3	225	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	FRYL_ENST00000507711.1_Missense_Mutation_p.R76C|FRYL_ENST00000537810.1_Missense_Mutation_p.R76C|FRYL_ENST00000358350.4_Missense_Mutation_p.R76C|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	76					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						AACAAGGTGCGAAGTAAGGAA	0.408																																																	0													149	139	142					4																	48622744		1891	4113	6004	SO:0001583	missense	0			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.226C>T	4.37:g.48622744G>A	ENSP00000426064:p.Arg76Cys		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R76C	ENST00000503238.1	37	c.226	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829175	0.90955	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000505759	T;T;T;T	0.67865	-0.29;-0.29;-0.29;0.83	5.91	5.91	0.95273	.	0.000000	0.64402	U	0.000002	T	0.81814	0.4902	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.999	D;P;P	0.80764	0.994;0.454;0.856	T	0.81508	-0.0901	10	0.62326	D	0.03	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	127;76;76	Q6ZNE6;F2Z2S2;O94915	.;.;FRYL_HUMAN	C	76;76;76;76;168	ENSP00000426064:R76C;ENSP00000351113:R76C;ENSP00000441114:R76C;ENSP00000421584:R76C	ENSP00000351113:R76C	R	-	1	0	FRYL	48317501	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	6.695000	0.74593	2.805000	0.96524	0.460000	0.39030	CGC	FRYL	-	NULL	ENSG00000075539		0.408	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0	77	0	G			48622744	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	missense	9.09	90	9	SNP	1.000	A	A	48622744	G	A	48622744	3	1	133	1	0	0	0	0	1	0	0	0	6088	1058	37	1	9051	1	FRYL	4	48622744	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1059763	48622744	142531532	126	34048											
KIT	3815	genome.wustl.edu	37	chr4	55604640	55604640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaaccgacagaagcccGtggtagaccattctgtgcgg	9	6	12	14	3	1	2	0	0	1	2	1	3	1	2	5	2	3	1	5	2	3	2	rs146374006		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:55604640G>T	ENST00000288135.5	+	21	2945	c.2848G>T	c.(2848-2850)Gtg>Ttg	p.V950L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	950					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACAGAAGCCCGTGGTAGACCA	0.517		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0													134	130	131					4																	55604640		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2848G>T	4.37:g.55604640G>T	ENSP00000288135:p.Val950Leu		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V950L	ENST00000288135.5	37	c.2848	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	5.281	0.237212	0.10023	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.76578	-1.03;-1.03	3.49	1.66	0.24008	.	1.166780	0.06477	N	0.732241	T	0.70002	0.3174	L	0.36672	1.1	0.09310	N	1	B;B	0.20887	0.034;0.049	B;B	0.24541	0.054;0.044	T	0.59359	-0.7469	10	0.62326	D	0.03	.	8.2872	0.31935	0.0:0.0:0.5728:0.4272	.	946;950	P10721-2;P10721	.;KIT_HUMAN	L	950;946	ENSP00000288135:V950L;ENSP00000390987:V946L	ENSP00000288135:V950L	V	+	1	0	KIT	55299397	0.021000	0.18746	0.001000	0.08648	0.029000	0.11900	1.067000	0.30616	0.450000	0.26774	0.561000	0.74099	GTG	KIT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000157404		0.517	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	-	0	67	0	G			55604640	1	tier1	-	no_errors	ENST00000288135	ensembl	human	known	74_37	missense	10.00	81	9	SNP	0.001	T	T	55604640	G	T	55604640	3	4	133	1	0	0	0	0	1	0	0	0	8356	1145	40	2	2930	2	KIT	4	55604640	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	6981896	55604640	135549636	127	34049											
MUC7	4589	genome.wustl.edu	37	chr4	71347113	71347113	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacagctgccccacccacaCctcctgcaactacaccagct	10	5	4	22	0	0	0	0	0	0	0	1	0	1	0	7	0	6	3	7	0	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:71347113C>A	ENST00000304887.5	+	3	842	c.652C>A	c.(652-654)Cct>Act	p.P218T	MUC7_ENST00000413702.1_Missense_Mutation_p.P218T|MUC7_ENST00000456088.1_Missense_Mutation_p.P218T	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	218	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)			CCCACCCACACCTCCTGCAAC	0.587																																																	0													434	375	395					4																	71347113		2201	4300	6501	SO:0001583	missense	0			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.652C>A	4.37:g.71347113C>A	ENSP00000302021:p.Pro218Thr		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	NULL	p.P218T	ENST00000304887.5	37	c.652	CCDS3541.1	4	.	.	.	.	.	.	.	.	.	.	C	1.396	-0.579490	0.03854	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.49720	0.77;0.77;0.77	1.77	-3.55	0.04639	.	.	.	.	.	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	1	B	0.28713	0.22	B	0.26517	0.07	T	0.11060	-1.0603	8	.	.	.	.	2.2146	0.03956	0.1496:0.5042:0.1496:0.1966	.	218	Q8TAX7	MUC7_HUMAN	T	218	ENSP00000407422:P218T;ENSP00000400585:P218T;ENSP00000302021:P218T	.	P	+	1	0	MUC7	71381702	0.116000	0.22171	0.000000	0.03702	0.001000	0.01503	-0.211000	0.09332	-2.045000	0.00910	-0.373000	0.07131	CCT	MUC7	-	NULL	ENSG00000171195		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	-	0	165	0	C	NM_152291		71347113	1	tier1	-	no_errors	ENST00000304887	ensembl	human	known	74_37	missense	14.94	205	36	SNP	0.001	A	A	71347113	C	A	71347113	3	1	133	1	0	0	0	0	1	0	0	0	10019	507	18	3	658	3	MUC7	4	71347113	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	15742473	71347113	119807163	128	34050											
ENAM	10117	genome.wustl.edu	37	chr4	71508513	71508513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacaaagaatccaaccagccCctggagaaactctcaacagt	16	6	6	13	0	1	2	1	0	1	2	3	3	2	2	4	1	5	0	4	1	6	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:71508513C>T	ENST00000396073.3	+	9	1651	c.1370C>T	c.(1369-1371)cCc>cTc	p.P457L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	457					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCAACCAGCCCCTGGAGAAAC	0.393																																																	0													34	36	36					4																	71508513		2185	4295	6480	SO:0001583	missense	0			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.1370C>T	4.37:g.71508513C>T	ENSP00000379383:p.Pro457Leu		Q17RI5|Q9H3D1	Missense_Mutation	SNP	NULL	p.P457L	ENST00000396073.3	37	c.1370	CCDS3544.2	4	.	.	.	.	.	.	.	.	.	.	C	9.017	0.984048	0.18889	.	.	ENSG00000132464	ENST00000396073	T	0.31247	1.5	5.93	3.31	0.37934	.	0.580762	0.16818	N	0.198268	T	0.33818	0.0876	M	0.74647	2.275	0.40929	D	0.984376	B	0.23735	0.09	B	0.26969	0.075	T	0.12656	-1.0539	10	0.59425	D	0.04	0.2994	8.1016	0.30861	0.0:0.7528:0.0:0.2472	.	457	Q9NRM1	ENAM_HUMAN	L	457	ENSP00000379383:P457L	ENSP00000379383:P457L	P	+	2	0	ENAM	71727377	0.264000	0.24093	0.741000	0.31004	0.139000	0.21198	0.765000	0.26546	0.430000	0.26230	0.655000	0.94253	CCC	ENAM	-	NULL	ENSG00000132464		0.393	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	-	0	57	0	C	NM_031889		71508513	1	tier1	-	no_errors	ENST00000396073	ensembl	human	known	74_37	missense	15.85	69	13	SNP	0.867	T	T	71508513	C	T	71508513	3	4	133	1	0	0	0	0	1	0	0	0	5128	623	22	3	1400	3	ENAM	4	71508513	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	161400	71508513	119645763	129	34051											
ANKRD56	345079	genome.wustl.edu	37	chr4	77816952	77816952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcactagcaatttgatgaccCcctggtggccgtgaatggct	8	10	12	11	1	0	3	0	3	0	0	0	3	0	3	3	3	1	3	3	3	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:77816952C>A	ENST00000334306.2	-	1	2050	c.2051G>T	c.(2050-2052)gGg>gTg	p.G684V		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	684																	TTTGATGACCCCCTGGTGGCC	0.522																																																	0													185	192	189					4																	77816952		2203	4300	6503	SO:0001583	missense	0				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.2051G>T	4.37:g.77816952C>A	ENSP00000334879:p.Gly684Val		B2RP29	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G684V	ENST00000334306.2	37	c.2051	CCDS34017.1	4	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534065	0.27475	.	.	ENSG00000186212	ENST00000334306	T	0.64438	-0.1	5.5	2.64	0.31445	Ankyrin repeat-containing domain (4);	0.570589	0.16028	U	0.232993	T	0.60077	0.2241	L	0.45137	1.4	0.21184	N	0.999768	D	0.61080	0.989	P	0.54544	0.755	T	0.47824	-0.9087	10	0.33940	T	0.23	-6.777	5.3798	0.16186	0.1549:0.4211:0.3506:0.0735	.	684	A6NEL2	ANR56_HUMAN	V	684	ENSP00000334879:G684V	ENSP00000334879:G684V	G	-	2	0	ANKRD56	78035976	0.000000	0.05858	0.570000	0.28473	0.615000	0.37417	-0.022000	0.12480	0.292000	0.22492	-0.165000	0.13383	GGG	SOWAHB	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000186212		0.522	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOWAHB	HGNC	protein_coding	OTTHUMT00000362762.1		0	43	0	C	NM_001029870		77816952	-1			no_errors	ENST00000334306	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.012	A	A	77816952	C	A	77816952	3	1	133	1	0	0	0	0	1	0	0	0	682	623	22	3	334	3	ANKRD56	4	77816952	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	6308439	77816952	113337324	130	34052											
UNC5C	8633	genome.wustl.edu	37	chr4	96123921	96123921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcatccagacagtagactcgGatgctgtactccagcgagga	11	8	11	11	2	1	2	1	0	0	2	4	5	3	4	2	2	3	3	2	2	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:96123921G>C	ENST00000453304.1	-	12	2445	c.2097C>G	c.(2095-2097)atC>atG	p.I699M		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	699	Interaction with DCC. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGTAGACTCGGATGCTGTACT	0.602																																																	0													91	83	86					4																	96123921		2203	4300	6503	SO:0001583	missense	0			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2097C>G	4.37:g.96123921G>C	ENSP00000406022:p.Ile699Met		Q8IUT0	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.I699M	ENST00000453304.1	37	c.2097	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663651	0.47572	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.59224	0.62;0.28	5.61	1.84	0.25277	.	0.285399	0.38005	N	0.001860	T	0.63070	0.2480	M	0.69823	2.125	0.80722	D	1	P;P	0.43477	0.76;0.808	P;P	0.50537	0.643;0.523	T	0.61098	-0.7131	10	0.54805	T	0.06	.	9.446	0.38697	0.3473:0.0:0.6527:0.0	.	699;699	A8K385;O95185	.;UNC5C_HUMAN	M	699;658;718	ENSP00000406022:I699M;ENSP00000426924:I718M	ENSP00000328673:I658M	I	-	3	3	UNC5C	96342944	1.000000	0.71417	0.856000	0.33681	0.972000	0.66771	1.532000	0.36029	0.085000	0.17107	-0.137000	0.14449	ATC	UNC5C	-	NULL	ENSG00000182168		0.602	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	HGNC	protein_coding	OTTHUMT00000253607.1	-	0	50	0	G	NM_003728		96123921	-1	tier1	-	no_errors	ENST00000453304	ensembl	human	known	74_37	missense	8.82	62	6	SNP	1.000	C	C	96123921	G	C	96123921	3	2	133	1	0	0	0	0	1	0	0	0	17042	1164	41	5	718	5	UNC5C	4	96123921	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	18306969	96123921	95030355	131	34053											
ADH7	131	genome.wustl.edu	37	chr4	100350696	100350696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcacgcttaccttaatgCgaacttctttagtctttggt	7	16	8	10	2	3	0	1	0	2	0	3	1	3	0	1	2	3	2	1	2	4	6	rs148026590	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:100350696C>A	ENST00000209665.4	-	2	389	c.149G>T	c.(148-150)cGc>cTc	p.R50L	ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000476959.1_Missense_Mutation_p.R58L|ADH7_ENST00000437033.2_Missense_Mutation_p.R38L	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	50					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TACCTTAATGCGAACTTCTTT	0.408																																																	0													98	85	89					4																	100350696		2203	4300	6503	SO:0001583	missense	0			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.149G>T	4.37:g.100350696C>A	ENSP00000209665:p.Arg50Leu		A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.R50L	ENST00000209665.4	37	c.149	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	c	16.92	3.254704	0.59212	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000476959	T;T;T	0.03635	3.86;3.86;3.86	4.05	-2.8	0.05823	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.171784	0.52532	D	0.000065	T	0.04227	0.0117	N	0.13140	0.3	0.58432	D	0.999998	D	0.69078	0.997	D	0.74674	0.984	T	0.34825	-0.9813	10	0.02654	T	1	-16.1279	9.9497	0.41631	0.0:0.5119:0.0:0.4881	.	50	P40394	ADH7_HUMAN	L	38;50;58	ENSP00000414254:R38L;ENSP00000209665:R50L;ENSP00000420269:R58L	ENSP00000209665:R50L	R	-	2	0	ADH7	100569719	0.140000	0.22579	0.001000	0.08648	0.974000	0.67602	0.662000	0.25038	-0.859000	0.04105	-0.119000	0.15052	CGC	ADH7	-	pfam_ADH_GroES-like,superfamily_GroES-like	ENSG00000196344		0.408	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding		-	0	130	0	C	NM_000673		100350696	-1	tier1	-	no_errors	ENST00000209665	ensembl	human	known	74_37	missense	9.45	115	12	SNP	0.648	A	A	100350696	C	A	100350696	3	1	133	1	0	0	0	0	1	0	0	0	313	768	27	2	1043	2	ADH7	4	100350696	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	4226775	100350696	90803580	132	34054											
NFKB1	4790	genome.wustl.edu	37	chr4	103518697	103518697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataacctctttctagagaagGctatgcagcttgcaaagagg	13	10	10	8	0	2	2	0	0	2	2	2	3	2	2	1	2	4	4	1	2	5	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:103518697G>A	ENST00000505458.1	+	15	1790	c.1513G>A	c.(1513-1515)Gct>Act	p.A505T	NFKB1_ENST00000394820.4_Missense_Mutation_p.A505T|NFKB1_ENST00000600343.1_Missense_Mutation_p.A325T|NFKB1_ENST00000226574.4_Missense_Mutation_p.A506T			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	505	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TCTAGAGAAGGCTATGCAGCT	0.483																																																	0													109	99	102					4																	103518697		2203	4300	6503	SO:0001583	missense	0			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1513G>A	4.37:g.103518697G>A	ENSP00000424790:p.Ala505Thr		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt	p.A506T	ENST00000505458.1	37	c.1516	CCDS54783.1	4	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515459	0.85389	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.38401	1.15;1.14;1.14	4.57	4.57	0.56435	.	0.150817	0.42821	D	0.000657	T	0.53481	0.1799	L	0.56769	1.78	0.48762	D	0.999701	D;D;D	0.69078	0.997;0.997;0.996	P;P;P	0.60609	0.877;0.877;0.857	T	0.55114	-0.8191	10	0.49607	T	0.09	.	17.5817	0.87970	0.0:0.0:1.0:0.0	.	325;505;506	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	T	506;505;505	ENSP00000226574:A506T;ENSP00000378297:A505T;ENSP00000424790:A505T	ENSP00000226574:A506T	A	+	1	0	NFKB1	103737735	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	4.954000	0.63631	2.376000	0.81061	0.655000	0.94253	GCT	NFKB1	-	NULL	ENSG00000109320		0.483	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	-	0	61	0	G			103518697	1	tier1	-	no_errors	ENST00000226574	ensembl	human	known	74_37	missense	19.35	50	12	SNP	1.000	A	A	103518697	G	A	103518697	3	1	133	1	0	0	0	0	1	0	0	0	10414	1203	42	3	1570	3	NFKB1	4	103518697	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3168001	103518697	87635579	133	34055											
AIMP1	9255	genome.wustl.edu	37	chr4	107248633	107248633	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggcaactttgagggaagaGaagaaacttcgagttgaaaa	17	7	12	5	1	0	4	0	2	0	2	1	7	0	5	0	2	2	2	0	2	6	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:107248633G>C	ENST00000442366.1	+	3	187	c.135G>C	c.(133-135)gaG>gaC	p.E45D	AIMP1_ENST00000394701.4_Missense_Mutation_p.E69D|AIMP1_ENST00000358008.3_Missense_Mutation_p.E45D	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	45	Required for fibroblast proliferation.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						TGAGGGAAGAGAAGAAACTTC	0.313																																																	0													56	61	59					4																	107248633		2203	4297	6500	SO:0001583	missense	0			U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"EMAP II", "ARS-interacting multifunctional protein 1"	603605	"small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.135G>C	4.37:g.107248633G>C	ENSP00000405248:p.Glu45Asp		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Missense_Mutation	SNP	pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_t-SNARE,pfscan_tRNA-bd_dom	p.E69D	ENST00000442366.1	37	c.207	CCDS3674.1	4	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209622	0.79240	.	.	ENSG00000164022	ENST00000510207;ENST00000442366;ENST00000432345;ENST00000358008;ENST00000394701	T;T;T;T	0.28895	1.59;1.85;1.85;1.82	5.19	4.34	0.51931	.	0.198698	0.51477	D	0.000081	T	0.55924	0.1951	M	0.80982	2.52	0.58432	D	0.999997	D;D	0.69078	0.997;0.986	D;P	0.72625	0.978;0.864	T	0.61282	-0.7094	10	0.59425	D	0.04	-21.6675	13.1684	0.59583	0.0786:0.0:0.9214:0.0	.	45;45	B4DNK3;Q12904	.;AIMP1_HUMAN	D	45;45;45;45;69	ENSP00000423681:E45D;ENSP00000405248:E45D;ENSP00000350699:E45D;ENSP00000378191:E69D	ENSP00000350699:E45D	E	+	3	2	AIMP1	107468082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.472000	0.60189	1.292000	0.44672	0.655000	0.94253	GAG	AIMP1	-	superfamily_t-SNARE	ENSG00000164022		0.313	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP1	HGNC	protein_coding	OTTHUMT00000253961.1	-	0	126	0	G	NM_004757		107248633	1	tier1	-	no_errors	ENST00000394701	ensembl	human	known	74_37	missense	12.96	141	21	SNP	1.000	C	C	107248633	G	C	107248633	3	2	133	1	0	0	0	0	1	0	0	0	433	933	33	5	217	5	AIMP1	4	107248633	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3729936	107248633	83905643	134	34056											
SEC24B	10427	genome.wustl.edu	37	chr4	110446037	110446037	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	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	ttgcattagattgctcgggaCagcaaactgcagtggatttg	10	12	12	7	1	0	1	0	0	0	1	1	3	0	3	0	2	5	4	0	2	2	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:110446037C>T	ENST00000265175.5	+	15	2627	c.2572C>T	c.(2572-2574)Cag>Tag	p.Q858*	SEC24B_ENST00000504968.2_Nonsense_Mutation_p.Q888*|SEC24B_ENST00000399100.2_Nonsense_Mutation_p.Q823*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	858					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)		TTGCTCGGGACAGCAAACTGC	0.378																																																	0													132	121	125					4																	110446037		1833	4095	5928	SO:0001587	stop_gained	0			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.2572C>T	4.37:g.110446037C>T	ENSP00000265175:p.Gln858*		B7ZKM8|B7ZKN4|Q0VG08	Nonsense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.Q858*	ENST00000265175.5	37	c.2572	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	C	40	8.531837	0.98852	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	.	.	.	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.0544	17.0573	0.86537	0.1275:0.8725:0.0:0.0	.	.	.	.	X	888;823;858	.	ENSP00000265175:Q858X	Q	+	1	0	SEC24B	110665486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.067000	0.71193	2.941000	0.99782	0.655000	0.94253	CAG	SEC24B	-	pfam_Sec23/24_trunk_dom	ENSG00000138802		0.378	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2		0	50	0	C			110446037	1			no_errors	ENST00000265175	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	1.000	T	T	110446037	C	T	110446037	4	4	133	1	0	0	0	0	0	1	0	0	14040	479	17	3	2630	3	SEC24B	4	110446037	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3197404	110446037	80708239	135	34057											
ENPEP	2028	genome.wustl.edu	37	chr4	111436598	111436598	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttcaaaaaggatgtcaGgtatgatttattacttttag	14	17	7	3	0	2	1	2	1	0	0	2	2	2	2	0	2	1	1	0	2	7	8			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:111436598G>T	ENST00000265162.5	+	8	1851	c.1509G>T	c.(1507-1509)caG>caT	p.Q503H	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	503					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)		AAGGATGTCAGGTATGATTTA	0.289																																																	0													79	85	83					4																	111436598		2202	4296	6498	SO:0001630	splice_region_variant	0			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.1509+1G>T	4.37:g.111436598G>T			Q504U2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Q503H	ENST00000265162.5	37	c.1509	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341200	0.60963	.	.	ENSG00000138792	ENST00000265162	T	0.04917	3.53	5.59	3.53	0.40419	.	0.112881	0.64402	D	0.000006	T	0.16300	0.0392	M	0.63428	1.95	0.80722	D	1	D	0.69078	0.997	P	0.57679	0.825	T	0.01326	-1.1384	10	0.45353	T	0.12	.	13.0903	0.59164	0.1533:0.0:0.8467:0.0	.	503	Q07075	AMPE_HUMAN	H	503	ENSP00000265162:Q503H	ENSP00000265162:Q503H	Q	+	3	2	ENPEP	111656047	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.839000	0.48207	1.361000	0.45981	0.650000	0.86243	CAG	ENPEP	-	NULL	ENSG00000138792		0.289	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	-	0	47	0	G		Missense_Mutation	111436598	1	tier1	-	no_errors	ENST00000265162	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	111436598	G	T	111436598	5	4	133	1	0	0	0	0	0	0	1	0	5144	1014	35	3	1539	3	ENPEP	4	111436598	Splice_Site	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	990561	111436598	79717678	136	34058											
LARP7	51574	genome.wustl.edu	37	chr4	113568845	113568845	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttttttatttatttcaaGatatagaaatctctactgaa	14	18	4	5	0	2	3	1	1	1	2	3	3	2	3	0	0	2	1	0	0	8	9			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:113568845G>C	ENST00000344442.5	+	8	1275		c.e8-1		MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000509061.1_Splice_Site|MIR302B_ENST00000505215.1_RNA|LARP7_ENST00000324052.6_Splice_Site|MIR302B_ENST00000362188.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000509938.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7						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)		TTTATTTCAAGATATAGAAAT	0.299																																																	0													18	19	18					4																	113568845		2012	4202	6214	SO:0001630	splice_region_variant	0			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.998-1G>C	4.37:g.113568845G>C			B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Splice_Site	SNP	-	e7-1	ENST00000344442.5	37	c.998-1	CCDS3701.2	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.65|12.65	2.001342|2.001342	0.35320|0.35320	.|.	.|.	ENSG00000174720|ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000324052|ENST00000511529	.|.	.|.	.|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64011	.|0.2560	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61237	.|-0.7103	.|4	.|.	.|.	.|.	.|.	11.5949|11.5949	0.50968|0.50968	0.0689:0.1261:0.8049:0.0|0.0689:0.1261:0.8049:0.0	.|.	.|.	.|.	.|.	.|N	-1|126	.|.	.|.	.|K	+|+	.|3	.|2	LARP7|LARP7	113788294|113788294	0.399000|0.399000	0.25287|0.25287	0.696000|0.696000	0.30242|0.30242	0.655000|0.655000	0.38815|0.38815	0.872000|0.872000	0.28037|0.28037	2.787000|2.787000	0.95880|0.95880	0.655000|0.655000	0.94253|0.94253	.|AAG	LARP7	-	-	ENSG00000174720		0.299	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2	-	0	75	0	G	NM_016648	Intron	113568845	1	tier1	-	no_errors	ENST00000324052	ensembl	human	known	74_37	splice_site	15.38	110	20	SNP	0.550	C	C	113568845	G	C	113568845	5	2	133	1	0	0	0	0	0	0	1	0	8661	956	33	5	1023	5	LARP7	4	113568845	Splice_Site	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2132247	113568845	77585431	137	34059											
BBS7	55212	genome.wustl.edu	37	chr4	122774232	122774232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgtcaaagctgtcaataCacaaaatacctttaaaaaga	20	9	4	8	0	2	1	2	0	0	1	2	1	2	1	1	0	3	1	1	0	10	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:122774232C>A	ENST00000264499.4	-	8	911	c.728G>T	c.(727-729)tGt>tTt	p.C243F	BBS7_ENST00000506636.1_Missense_Mutation_p.C243F	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	243					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GCTGTCAATACACAAAATACC	0.333									Bardet-Biedl syndrome																																								0													106	93	97					4																	122774232		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.728G>T	4.37:g.122774232C>A	ENSP00000264499:p.Cys243Phe		Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.C243F	ENST00000264499.4	37	c.728	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397573	0.83120	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.91996	-2.95;-2.95	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96288	0.8789	M	0.82517	2.595	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	D	0.96766	0.9565	10	0.87932	D	0	-12.4823	18.8507	0.92227	0.0:1.0:0.0:0.0	.	243	Q8IWZ6	BBS7_HUMAN	F	243	ENSP00000264499:C243F;ENSP00000423626:C243F	ENSP00000264499:C243F	C	-	2	0	BBS7	122993682	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	7.563000	0.82314	2.460000	0.83146	0.585000	0.79938	TGT	BBS7	-	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	ENSG00000138686		0.333	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	-	0	77	0	C			122774232	-1	tier1	-	no_errors	ENST00000264499	ensembl	human	known	74_37	missense	11.69	68	9	SNP	1.000	A	A	122774232	C	A	122774232	3	1	133	1	0	0	0	0	1	0	0	0	1342	478	17	3	1472	3	BBS7	4	122774232	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	9205387	122774232	68380044	138	34060											
ADAD1	132612	genome.wustl.edu	37	chr4	123302179	123302179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgttgctttccaagaatCtttcatctatttcaaatcct	10	16	4	11	1	4	1	2	0	2	1	6	1	6	1	3	0	2	2	3	0	4	5	rs62000437	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:123302179C>A	ENST00000296513.2	+	4	390	c.205C>A	c.(205-207)Ctt>Att	p.L69I	ADAD1_ENST00000388725.2_Missense_Mutation_p.L51I|ADAD1_ENST00000388724.2_Missense_Mutation_p.L69I|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	69					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						TTCCAAGAATCTTTCATCTAT	0.318																																																	0													69	73	71					4																	123302179		2203	4300	6503	SO:0001583	missense	0			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.205C>A	4.37:g.123302179C>A	ENSP00000296513:p.Leu69Ile		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.L69I	ENST00000296513.2	37	c.205	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	C	8.484	0.860354	0.17178	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.27557	1.67;1.66;1.67	5.23	3.41	0.39046	.	0.238237	0.29293	N	0.012575	T	0.11367	0.0277	N	0.03608	-0.345	0.23003	N	0.998441	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.24261	-1.0165	10	0.16420	T	0.52	-22.2044	7.0328	0.24977	0.3664:0.4799:0.1537:0.0	.	69;69	Q96M93-2;Q96M93	.;ADAD1_HUMAN	I	69;69;69;69;51	ENSP00000296513:L69I;ENSP00000373376:L69I;ENSP00000373377:L51I	ENSP00000296513:L69I	L	+	1	0	ADAD1	123521629	0.882000	0.30256	1.000000	0.80357	0.657000	0.38888	0.561000	0.23515	2.423000	0.82170	0.563000	0.77884	CTT	ADAD1	-	NULL	ENSG00000164113		0.318	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	-	0	100	0	C	NM_139243		123302179	1	tier1	-	no_errors	ENST00000296513	ensembl	human	known	74_37	missense	13.45	103	16	SNP	0.728	A	A	123302179	C	A	123302179	3	1	133	1	0	0	0	0	1	0	0	0	231	913	32	3	211	3	ADAD1	4	123302179	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	527947	123302179	67852097	139	34061											
PCDH18	54510	genome.wustl.edu	37	chr4	138452880	138452880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcacttcaacttcaatatgGaaaagctgcagatgctctgt	13	11	8	9	0	3	1	2	0	1	1	3	2	3	2	0	1	5	4	0	1	5	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:138452880G>C	ENST00000344876.4	-	1	749	c.363C>G	c.(361-363)ttC>ttG	p.F121L	PCDH18_ENST00000412923.2_Missense_Mutation_p.F121L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	121	Cadherin 1. {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)					CTTCAATATGGAAAAGCTGCA	0.423																																																	0													106	106	106					4																	138452880		2203	4300	6503	SO:0001583	missense	0			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.363C>G	4.37:g.138452880G>C	ENSP00000355082:p.Phe121Leu		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F121L	ENST00000344876.4	37	c.363	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233865	0.39498	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.36520	1.25;1.25	5.81	4.96	0.65561	Cadherin (3);Cadherin-like (1);	0.000000	0.45606	D	0.000342	T	0.35008	0.0917	L	0.55834	1.745	0.80722	D	1	B;B	0.32573	0.004;0.376	B;B	0.27380	0.011;0.079	T	0.10543	-1.0625	10	0.39692	T	0.17	.	16.7792	0.85559	0.0:0.129:0.871:0.0	.	121;121	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	L	121	ENSP00000355082:F121L;ENSP00000390688:F121L	ENSP00000355082:F121L	F	-	3	2	PCDH18	138672330	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.944000	0.56629	1.427000	0.47276	0.650000	0.86243	TTC	PCDH18	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000189184		0.423	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	-	0	83	0	G	NM_019035		138452880	-1	tier1	-	no_errors	ENST00000344876	ensembl	human	known	74_37	missense	6.59	85	6	SNP	1.000	C	C	138452880	G	C	138452880	3	2	133	1	0	0	0	0	1	0	0	0	11552	1165	41	5	3060	5	PCDH18	4	138452880	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	15150701	138452880	52701396	140	34062											
INPP4B	8821	genome.wustl.edu	37	chr4	143003189	143003189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatgtgagataccttctCatgcaatccagcgctcggat	12	10	8	11	2	1	1	1	1	1	1	4	3	2	2	2	1	4	2	2	1	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:143003189C>A	ENST00000513000.1	-	26	3070	c.2637G>T	c.(2635-2637)atG>atT	p.M879I	INPP4B_ENST00000509777.1_Missense_Mutation_p.M879I|INPP4B_ENST00000308502.4_Missense_Mutation_p.M879I|INPP4B_ENST00000262992.4_Missense_Mutation_p.M879I|INPP4B_ENST00000508116.1_Missense_Mutation_p.M879I	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	879					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.M879I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GATACCTTCTCATGCAATCCA	0.343																																																	1	Substitution - Missense(1)	lung(1)											92	83	86					4																	143003189		2203	4300	6503	SO:0001583	missense	0			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2637G>T	4.37:g.143003189C>A	ENSP00000425487:p.Met879Ile		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_dom	p.M879I	ENST00000513000.1	37	c.2637	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.082299	0.94050	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777	T;T;T;T;T	0.40756	1.44;1.44;1.44;1.44;1.02	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.69397	-0.5156	10	0.59425	D	0.04	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	879	O15327	INP4B_HUMAN	I	879	ENSP00000425487:M879I;ENSP00000262992:M879I;ENSP00000308441:M879I;ENSP00000423954:M879I;ENSP00000422793:M879I	ENSP00000262992:M879I	M	-	3	0	INPP4B	143222639	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	ATG	INPP4B	-	NULL	ENSG00000109452		0.343	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1		0	35	0	C	NM_003866		143003189	-1			no_errors	ENST00000509777	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	143003189	C	A	143003189	3	1	133	1	0	0	0	0	1	0	0	0	7780	826	29	3	145	3	INPP4B	4	143003189	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	4550309	143003189	48151087	141	34063											
DCHS2	54798	genome.wustl.edu	37	chr4	155287589	155287589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaggcttgggcacttagcCcaccctggtggatgaatgag	10	8	13	10	0	0	2	0	2	0	0	0	3	0	3	2	4	1	2	2	4	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:155287589C>A	ENST00000357232.4	-	5	466	c.467G>T	c.(466-468)gGg>gTg	p.G156V	DCHS2_ENST00000339452.1_Missense_Mutation_p.G750V	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	156	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGCACTTAGCCCACCCTGGTG	0.443																																																	0													69	58	62					4																	155287589		2203	4300	6503	SO:0001583	missense	0			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.467G>T	4.37:g.155287589C>A	ENSP00000349768:p.Gly156Val		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G156V	ENST00000357232.4	37	c.467	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666840	0.88251	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.61742	0.08;0.58	5.83	5.83	0.93111	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000019	T	0.76285	0.3966	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76334	-0.2997	10	0.62326	D	0.03	.	19.7266	0.96166	0.0:1.0:0.0:0.0	.	750;156	E9PC11;Q6V1P9	.;PCD23_HUMAN	V	156;750;750	ENSP00000349768:G156V;ENSP00000345062:G750V	ENSP00000345062:G750V	G	-	2	0	DCHS2	155507039	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	6.962000	0.76048	2.756000	0.94617	0.655000	0.94253	GGG	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2		0	51	0	C	NM_001142552		155287589	-1			no_errors	ENST00000357232	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	A	A	155287589	C	A	155287589	3	1	133	1	0	0	0	0	1	0	0	0	4297	623	22	3	8463	3	DCHS2	4	155287589	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	12284400	155287589	35866687	142	34064											
KLHL2	11275	genome.wustl.edu	37	chr4	166149971	166149971	+	Silent	SNP	G	G	T	0	0	1	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	ttacacagtcaaaatttgctGtgcgatgtcacaattgtggc	11	13	9	8	1	2	0	2	0	0	0	2	1	2	0	0	1	3	1	0	1	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:166149971G>T	ENST00000226725.6	+	3	424	c.165G>T	c.(163-165)ctG>ctT	p.L55L	KLHL2_ENST00000421009.2_5'UTR|KLHL2_ENST00000514860.1_Silent_p.L59L|KLHL2_ENST00000538127.1_Intron	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	55					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AAAATTTGCTGTGCGATGTCA	0.373																																																	0													83	76	78					4																	166149971		2203	4300	6503	SO:0001819	synonymous_variant	0			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.165G>T	4.37:g.166149971G>T			A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L55	ENST00000226725.6	37	c.165	CCDS34094.1	4																																																																																			KLHL2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin	ENSG00000109466		0.373	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLHL2	HGNC	protein_coding	OTTHUMT00000364439.1	-	0	225	0	G			166149971	1	tier1	-	no_errors	ENST00000226725	ensembl	human	known	74_37	silent	7.84	246	21	SNP	0.999	T	T	166149971	G	T	166149971	2	4	133	1	0	0	0	0	0	0	0	1	8401	1364	48	3		3	KLHL2	4	166149971	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	10862382	166149971	25004305	143	34065											
MLF1IP	79682	genome.wustl.edu	37	chr4	185637644	185637644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacagactcagctggtttCtctgaaagttctgaagacgc	10	11	11	9	1	3	5	1	3	2	2	4	5	3	5	0	1	1	3	0	1	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:185637644C>T	ENST00000281453.5	-	6	595	c.525G>A	c.(523-525)gaG>gaA	p.E175E	MLF1IP_ENST00000506535.1_5'Flank|MLF1IP_ENST00000541971.1_Silent_p.E175E	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		CAGCTGGTTTCTCTGAAAGTT	0.408																																																	0													123	115	118					4																	185637644		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000281453.5:c.525G>A	4.37:g.185637644C>T				Silent	SNP	NULL	p.E175	ENST00000281453.5	37	c.525	CCDS3838.1	4																																																																																			MLF1IP	-	NULL	ENSG00000151725		0.408	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLF1IP	HGNC	protein_coding	OTTHUMT00000360841.2	-	0	100	0	C			185637644	-1	tier1	-	no_errors	ENST00000281453	ensembl	human	known	74_37	silent	7.23	77	6	SNP	0.009	T	T	185637644	C	T	185637644	2	4	133	1	0	0	0	0	0	0	0	1	9653	912	32	3		3	MLF1IP	4	185637644	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	19487673	185637644	5516632	144	34066											
FRG1	2483	genome.wustl.edu	37	chr4	190883076	190883076	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggatttttgcatgagacGcttctggacaggtagctatt	9	14	12	6	1	1	1	0	1	1	1	1	5	1	3	0	3	2	4	0	3	2	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr4:190883076G>C	ENST00000226798.4	+	8	951	c.729G>C	c.(727-729)acG>acC	p.T243T		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	243					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.T243T(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)		TGCATGAGACGCTTCTGGACA	0.328																																																	1	Substitution - coding silent(1)	lung(1)											74	91	86					4																	190883076		2149	4182	6331	SO:0001819	synonymous_variant	0			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.729G>C	4.37:g.190883076G>C			A8K775	Silent	SNP	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	p.T243	ENST00000226798.4	37	c.729	CCDS34121.1	4																																																																																			FRG1	-	pfam_FRG1	ENSG00000109536		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4		0	40	0	G	NM_004477		190883076	1			no_errors	ENST00000226798	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.258	C	C	190883076	G	C	190883076	2	2	133	1	0	0	0	0	0	0	0	1	6070	1074	38	5		5	FRG1	4	190883076	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5245432	190883076	271200	145	34067											
FASTKD3	79072	genome.wustl.edu	37	chr5	7867439	7867439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagggccacaatatcctccGgggtaaatgtttccaatttt	12	12	8	9	1	0	0	0	0	0	0	3	0	3	0	4	3	0	2	4	3	6	5	rs201558864		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr5:7867439G>T	ENST00000264669.5	-	2	894	c.758C>A	c.(757-759)cCg>cAg	p.P253Q	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	253					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						AATATCCTCCGGGGTAAATGT	0.363																																																	0													75	82	79					5																	7867439		2202	4300	6502	SO:0001583	missense	0			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.758C>A	5.37:g.7867439G>T	ENSP00000264669:p.Pro253Gln		Q9BVD3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.P253Q	ENST00000264669.5	37	c.758	CCDS3873.1	5	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758016	0.49468	.	.	ENSG00000124279	ENST00000264669	T	0.29655	1.56	4.85	4.85	0.62838	.	0.233302	0.45361	D	0.000364	T	0.47581	0.1453	M	0.73598	2.24	0.09310	N	0.999998	D	0.61080	0.989	P	0.55871	0.786	T	0.43491	-0.9388	10	0.51188	T	0.08	-9.5051	12.574	0.56354	0.0796:0.0:0.9204:0.0	.	253	Q14CZ7	FAKD3_HUMAN	Q	253	ENSP00000264669:P253Q	ENSP00000264669:P253Q	P	-	2	0	FASTKD3	7920439	0.810000	0.29049	0.016000	0.15963	0.702000	0.40608	4.488000	0.60300	2.501000	0.84356	0.650000	0.86243	CCG	FASTKD3	-	NULL	ENSG00000124279		0.363	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD3	HGNC	protein_coding	OTTHUMT00000253673.1		0	40	0	G	NM_024091		7867439	-1			no_errors	ENST00000264669	ensembl	human	known	74_37	missense	5.97	62	4	SNP	0.050	T	T	7867439	G	T	7867439	3	4	133	1	0	0	0	0	1	0	0	0	5709	1116	39	2	1254	2	FASTKD3	5	7867439	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09		7867439	173047821	146	34068											
PDZD2	23037	genome.wustl.edu	37	chr5	31983407	31983407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccttggagctgggtgaccGaactgcgaaaaaggggaaac	13	6	14	8	2	0	1	0	1	0	0	0	5	0	3	2	4	5	1	2	4	5	2	rs149201593	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr5:31983407G>A	ENST00000438447.1	+	3	1011	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	PDZD2_ENST00000282493.3_Missense_Mutation_p.R208Q			O15018	PDZD2_HUMAN	PDZ domain containing 2	208					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGGGTGACCGAACTGCGAAA	0.537													G|||	2	0.000399361	0.0015	0	5008	,	,		20309	0		0	False		,,,				2504	0																0								G	GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	89	88	88		623	-3.3	0	5	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PDZD2	NM_178140.2	43	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	benign	208/2840	31983407	6,13000	2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.623G>A	5.37:g.31983407G>A	ENSP00000402033:p.Arg208Gln		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R208Q	ENST00000438447.1	37	c.623	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	3.152	-0.173922	0.06421	0.001135	1.16E-4	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.63580	-0.05;-0.05	5.23	-3.29	0.05017	.	1.550270	0.04017	N	0.299179	T	0.32194	0.0821	N	0.03608	-0.345	0.09310	N	0.999993	B;B	0.25312	0.041;0.123	B;B	0.12837	0.003;0.008	T	0.16571	-1.0398	10	0.10902	T	0.67	.	7.0473	0.25052	0.5096:0.1174:0.3731:0.0	.	34;208	B4E3P2;O15018	.;PDZD2_HUMAN	Q	208	ENSP00000402033:R208Q;ENSP00000282493:R208Q	ENSP00000282493:R208Q	R	+	2	0	PDZD2	32019164	0.219000	0.23619	0.024000	0.17045	0.121000	0.20230	0.431000	0.21444	-0.975000	0.03546	-0.355000	0.07637	CGA	PDZD2	-	NULL	ENSG00000133401		0.537	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0	80	0	G			31983407	1	tier1	rs149201593	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	5.32	89	5	SNP	0.002	A	A	31983407	G	A	31983407	3	1	133	1	0	0	0	0	1	0	0	0	11740	1058	37	1	629	1	PDZD2	5	31983407	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	24115968	31983407	148931853	147	34069											
FYB	2533	genome.wustl.edu	37	chr5	39202128	39202128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaggggccttagggaacCtggcaggaggagtccctgag	10	6	17	8	0	0	2	0	1	0	1	1	5	1	5	3	6	1	1	3	6	4	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr5:39202128C>A	ENST00000351578.6	-	2	1125	c.935G>T	c.(934-936)aGg>aTg	p.R312M	FYB_ENST00000515010.1_Missense_Mutation_p.R312M|FYB_ENST00000505428.1_Missense_Mutation_p.R312M|FYB_ENST00000540520.1_Missense_Mutation_p.R322M|FYB_ENST00000512982.1_Missense_Mutation_p.R312M	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	312					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTTAGGGAACCTGGCAGGAGG	0.502																																																	0													86	87	87					5																	39202128		1844	4091	5935	SO:0001583	missense	0			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.935G>T	5.37:g.39202128C>A	ENSP00000316460:p.Arg312Met		A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.R322M	ENST00000351578.6	37	c.965	CCDS47200.1	5	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040663	0.35989	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	6.17	1.28	0.21552	.	0.716490	0.14235	N	0.332422	T	0.16811	0.0404	L	0.29908	0.895	0.26019	N	0.981896	P;P	0.34780	0.468;0.468	B;B	0.35971	0.177;0.215	T	0.15723	-1.0427	10	0.59425	D	0.04	-3.7677	4.9588	0.14056	0.1255:0.2122:0.0:0.6623	.	322;312	B4DLN2;O15117	.;FYB_HUMAN	M	312;312;312;312;322;312	ENSP00000316460:R312M;ENSP00000426346:R312M;ENSP00000425845:R312M;ENSP00000427114:R312M;ENSP00000442840:R322M	ENSP00000316460:R312M	R	-	2	0	FYB	39237885	0.645000	0.27286	0.522000	0.27862	0.782000	0.44232	0.281000	0.18810	0.199000	0.20427	-0.302000	0.09304	AGG	FYB	-	NULL	ENSG00000082074		0.502	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	HGNC	protein_coding	OTTHUMT00000367098.1	-	0	102	0	C	NM_001465		39202128	-1	tier1	-	no_errors	ENST00000540520	ensembl	human	known	74_37	missense	7.26	115	9	SNP	0.993	A	A	39202128	C	A	39202128	3	1	133	1	0	0	0	0	1	0	0	0	6148	681	24	3	1626	3	FYB	5	39202128	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	7218721	39202128	141713132	148	34070											
ANKRA2	57763	genome.wustl.edu	37	chr5	72849262	72849262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagggctacagctagatcCatagaattatatccagagtc	13	10	8	10	0	0	3	0	0	0	3	3	3	2	3	3	1	2	2	3	1	7	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr5:72849262C>A	ENST00000296785.3	-	8	1513	c.855G>T	c.(853-855)atG>atT	p.M285I		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	285						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)		CAGCTAGATCCATAGAATTAT	0.353																																																	0													83	78	80					5																	72849262		2203	4300	6503	SO:0001583	missense	0			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.855G>T	5.37:g.72849262C>A	ENSP00000296785:p.Met285Ile			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M285I	ENST00000296785.3	37	c.855	CCDS4020.1	5	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177501	0.78564	.	.	ENSG00000164331	ENST00000296785	T	0.69435	-0.4	6.04	6.04	0.98038	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	L	0.32530	0.975	0.80722	D	1	P	0.35507	0.506	P	0.46419	0.516	T	0.69734	-0.5065	10	0.72032	D	0.01	-21.9018	20.5948	0.99439	0.0:1.0:0.0:0.0	.	285	Q9H9E1	ANRA2_HUMAN	I	285	ENSP00000296785:M285I	ENSP00000296785:M285I	M	-	3	0	ANKRA2	72885018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.338000	0.79269	2.873000	0.98535	0.563000	0.77884	ATG	ANKRA2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000164331		0.353	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRA2	HGNC	protein_coding	OTTHUMT00000219814.2		0	21	0	C	NM_023039		72849262	-1			no_errors	ENST00000296785	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	A	A	72849262	C	A	72849262	3	1	133	1	0	0	0	0	1	0	0	0	636	594	21	3	94	3	ANKRA2	5	72849262	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	33647134	72849262	108065998	149	34071											
POU5F2	134187	genome.wustl.edu	37	chr5	93076834	93076834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacagcgatccccacatCggcctgcgagtaccctaggc	8	6	9	18	3	0	0	0	0	0	0	3	2	2	0	5	2	3	1	5	2	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr5:93076834C>A	ENST00000510627.4	-	1	509	c.436G>T	c.(436-438)Gat>Tat	p.D146Y	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	146	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				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)		ATCCCCACATCGGCCTGCGAG	0.587																																																	0													95	103	100					5																	93076834		2147	4269	6416	SO:0001583	missense	0				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.436G>T	5.37:g.93076834C>A	ENSP00000464890:p.Asp146Tyr		Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.D146Y	ENST00000510627.4	37	c.436	CCDS59489.1	5																																																																																			POU5F2	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU	ENSG00000248483		0.587	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	-	0	54	0	C	NM_153216		93076834	-1	tier1	-	no_errors	ENST00000510627	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.997	A	A	93076834	C	A	93076834	3	1	133	1	0	0	0	0	1	0	0	0	12322	884	31	2	554	2	POU5F2	5	93076834	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	20227572	93076834	87838426	150	34072											
PRR16	51334	genome.wustl.edu	37	chr5	120022148	120022148	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccatggctattgtcctgactGtgatacccggtataacataa	11	12	8	10	1	0	2	0	2	0	0	1	2	1	2	3	2	2	2	3	2	5	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr5:120022148G>T	ENST00000407149.2	+	2	868	c.659G>T	c.(658-660)tGt>tTt	p.C220F	PRR16_ENST00000379551.2_Missense_Mutation_p.C197F|PRR16_ENST00000446965.1_Missense_Mutation_p.C150F|PRR16_ENST00000505123.1_Missense_Mutation_p.C150F			Q569H4	LARGN_HUMAN	proline rich 16	220	Pro-rich.				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)		TGTCCTGACTGTGATACCCGG	0.502																																																	0													76	76	76					5																	120022148		2203	4300	6503	SO:0001583	missense	0			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.659G>T	5.37:g.120022148G>T	ENSP00000385118:p.Cys220Phe		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	NULL	p.C220F	ENST00000407149.2	37	c.659		5	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769625	0.69992	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.86209	0.5878	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.85164	0.0994	9	.	.	.	-0.6275	18.1142	0.89545	0.0:0.0:1.0:0.0	.	220;197	Q569H4;Q569H4-3	PRR16_HUMAN;.	F	220;197;150;150	ENSP00000385118:C220F;ENSP00000368869:C197F;ENSP00000423446:C150F;ENSP00000405491:C150F	.	C	+	2	0	PRR16	120050047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.388000	0.97237	2.563000	0.86464	0.650000	0.86243	TGT	PRR16	-	NULL	ENSG00000184838		0.502	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1	-	0	59	0	G	NM_016644		120022148	1	tier1	-	no_errors	ENST00000407149	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	120022148	G	T	120022148	3	4	133	1	0	0	0	0	1	0	0	0	12631	1377	48	3	596	3	PRR16	5	120022148	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	26945314	120022148	60893112	151	34073											
PCDHB14	56122	genome.wustl.edu	37	chr5	140603152	140603152	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttttgctgggattgtctcgGgcaggtactgaatctgcaca	7	13	13	8	1	2	1	0	1	2	0	3	2	2	2	0	3	3	5	0	3	2	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr5:140603152G>T	ENST00000239449.4	+	1	75	c.75G>T	c.(73-75)cgG>cgT	p.R25R	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	25					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATTGTCTCGGGCAGGTACTG	0.498																																					Ovarian(141;50 1831 27899 33809 37648)												0													97	94	95					5																	140603152		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.75G>T	5.37:g.140603152G>T			B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R25	ENST00000239449.4	37	c.75	CCDS4256.1	5																																																																																			PCDHB14	-	NULL	ENSG00000120327		0.498	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0	98	0	G	NM_018934		140603152	1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	silent	7.22	90	7	SNP	0.030	T	T	140603152	G	T	140603152	2	4	133	1	0	0	0	0	0	0	0	1	11578	1219	43	3		3	PCDHB14	5	140603152	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	20581004	140603152	40312108	152	34074											
PCDH12	51294	genome.wustl.edu	37	chr5	141331136	141331136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attggccctgatgcagcaagGacagcagctgggagatttgc	10	8	14	9	0	0	2	0	1	0	1	0	4	0	3	1	3	5	4	1	3	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr5:141331136G>T	ENST00000231484.3	-	2	4110	c.2900C>A	c.(2899-2901)tCc>tAc	p.S967Y	AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	967					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)			ATGCAGCAAGGACAGCAGCTG	0.542											OREG0016877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													100	94	96					5																	141331136		2203	4300	6503	SO:0001583	missense	0			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.2900C>A	5.37:g.141331136G>T	ENSP00000231484:p.Ser967Tyr	1663	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S967Y	ENST00000231484.3	37	c.2900	CCDS4269.1	5	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003132	0.93287	.	.	ENSG00000113555	ENST00000231484	T	0.74842	-0.88	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.86435	0.5932	M	0.73962	2.25	0.58432	D	0.999996	D	0.89917	1.0	D	0.75484	0.986	D	0.86795	0.1988	10	0.87932	D	0	.	18.1573	0.89696	0.0:0.0:1.0:0.0	.	967	Q9NPG4	PCD12_HUMAN	Y	967	ENSP00000231484:S967Y	ENSP00000231484:S967Y	S	-	2	0	PCDH12	141311320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	TCC	PCDH12	-	NULL	ENSG00000113555		0.542	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	-	0	74	0	G	NM_016580		141331136	-1	tier1	-	no_errors	ENST00000231484	ensembl	human	known	74_37	missense	7.06	79	6	SNP	1.000	T	T	141331136	G	T	141331136	3	4	133	1	0	0	0	0	1	0	0	0	11549	1174	41	3	666	3	PCDH12	5	141331136	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	727984	141331136	39584124	153	34075											
LARS	51520	genome.wustl.edu	37	chr5	145543902	145543902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattctttttaaatcctgaaTagccagtggcgggaaataat	13	13	8	7	1	1	1	0	1	1	0	2	2	2	2	2	2	1	0	2	2	6	6	rs199808937		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr5:145543902T>C	ENST00000394434.2	-	6	731	c.565A>G	c.(565-567)Att>Gtt	p.I189V	LARS_ENST00000274562.9_Missense_Mutation_p.I162V|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_Missense_Mutation_p.I135V|LARS_ENST00000545646.1_Missense_Mutation_p.I143V	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	189					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AAATCCTGAATAGCCAGTGGC	0.363																																																	0													87	100	96					5																	145543902		2203	4300	6503	SO:0001583	missense	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.565A>G	5.37:g.145543902T>C	ENSP00000377954:p.Ile189Val		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.I189V	ENST00000394434.2	37	c.565	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	T	0.586	-0.835235	0.02713	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.54	-2.94	0.05581	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.428702	0.25526	N	0.030062	T	0.12987	0.0315	N	0.10618	0.005	0.24357	N	0.99489	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.30327	-0.9982	10	0.10902	T	0.67	-5.071	7.7978	0.29158	0.0:0.4339:0.231:0.3351	.	162;143;189	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	V	189;143;135;162	ENSP00000377954:I189V;ENSP00000437791:I143V;ENSP00000426005:I135V;ENSP00000274562:I162V	ENSP00000274562:I162V	I	-	1	0	LARS	145524095	0.385000	0.25172	0.862000	0.33874	0.542000	0.35054	-0.316000	0.08071	-0.678000	0.05224	-1.319000	0.01295	ATT	LARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-synth_Ia_arc/euk	ENSG00000133706		0.363	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	-	0	100	0	T	NM_020117		145543902	-1	tier1	rs199808937	no_errors	ENST00000394434	ensembl	human	known	74_37	missense	5.56	119	7	SNP	0.987	C	C	145543902	T	C	145543902	3	2	133	1	0	0	0	0	1	0	0	0	8662	1406	49	4	3073	4	LARS	5	145543902	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	4212766	145543902	35371358	154	34076											
JAKMIP2	9832	genome.wustl.edu	37	chr5	147040585	147040585	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggactgatgctcactccGaaggtccccagccttgattt	7	11	11	12	1	1	2	1	2	0	0	3	4	3	3	4	2	2	1	4	2	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr5:147040585G>T	ENST00000265272.5	-	3	1020	c.553C>A	c.(553-555)Cgg>Agg	p.R185R	JAKMIP2_ENST00000507386.1_Silent_p.R185R|JAKMIP2_ENST00000333010.6_Silent_p.R143R	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	185						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCACTCCGAAGGTCCCCA	0.522																																																	0													163	154	157					5																	147040585		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.553C>A	5.37:g.147040585G>T			A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	NULL	p.R185	ENST00000265272.5	37	c.553	CCDS4285.1	5																																																																																			JAKMIP2	-	NULL	ENSG00000176049		0.522	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	-	0	44	0	G	NM_014790		147040585	-1	tier1	-	no_errors	ENST00000265272	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.687	T	T	147040585	G	T	147040585	2	4	133	1	0	0	0	0	0	0	0	1	7968	1057	37	2		2	JAKMIP2	5	147040585	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1496683	147040585	33874675	155	34077											
CAGE1	285782	genome.wustl.edu	37	chr6	7373495	7373496	+	Frame_Shift_Ins	INS	-	-	A																															cattttcagacataaattgcINSaaatttctaacttgagtgag																										TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:7373495_7373496insA	ENST00000512086.1	-	5	1758_1759	c.1556_1557insT	c.(1555-1557)ttgfs	p.L519fs	CAGE1_ENST00000296742.7_Frame_Shift_Ins_p.L383fs|CAGE1_ENST00000338150.4_Frame_Shift_Ins_p.L519fs|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000379918.4_Frame_Shift_Ins_p.L519fs|CAGE1_ENST00000502583.1_Frame_Shift_Ins_p.L519fs			Q8TC20	CAGE1_HUMAN	cancer antigen 1	519										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ACATAAATTGCAAATTTCTAAC	0.332																																																	0																																										SO:0001589	frameshift_variant	0			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1557dupT	6.37:g.7373498_7373498dupA	ENSP00000427583:p.Leu519fs		D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Frame_Shift_Ins	INS	NULL	p.L519fs	ENST00000512086.1	37	c.1557_1556		6																																																																																			CAGE1	-	NULL	ENSG00000164304		0.332	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	HGNC	protein_coding	OTTHUMT00000367136.1		0	51	0	-	NM_175745		7373496	-1	tier1		no_errors	ENST00000338150	ensembl	human	known	74_37	frame_shift_ins	17.24	48	10	INS	0.978:0.976	A	A	7373496	-	A	7373495	7	5	133	1	0	1	1	0	0	0	0	0	2579	709	25	0	1108	0	CAGE1	6	7373495	Frame_Shift_Ins	INS	-	TCGA-LN-A9FP-01A-31D-A387-09		7373495	163741572	156	34078											
PHACTR1	221692	genome.wustl.edu	37	chr6	13228205	13228205	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagaaaatgtgcctcatGagtcagactacgaagactct	16	9	8	8	1	3	4	2	1	1	3	3	5	3	4	1	0	2	0	1	0	6	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:13228205G>T	ENST00000379350.1	+	8	1273	c.1144G>T	c.(1144-1146)Gag>Tag	p.E382*	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Nonsense_Mutation_p.E237*|PHACTR1_ENST00000332995.7_Nonsense_Mutation_p.E382*			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	382					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)			TGTGCCTCATGAGTCAGACTA	0.458																																																	0													153	160	158					6																	13228205		1998	4169	6167	SO:0001587	stop_gained	0			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.1144G>T	6.37:g.13228205G>T	ENSP00000368655:p.Glu382*		A8K1V2|Q3MJ93|Q5JSJ2	Nonsense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.E382*	ENST00000379350.1	37	c.1144		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.400753|5.400753	0.96030|0.96030	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702|ENST00000415087	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.045872|.	0.85682|.	D|.	0.000000|.	.|T	.|0.70098	.|0.3185	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66540	.|-0.5898	.|4	0.72032|.	D|.	0.01|.	-11.4001|-11.4001	19.3193|19.3193	0.94231|0.94231	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	382;382;451;237|216	.|.	ENSP00000329880:E382X|.	E|M	+|+	1|3	0|0	PHACTR1|PHACTR1	13336184|13336184	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.976000|0.976000	0.68499|0.68499	7.333000|7.333000	0.79214|0.79214	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	GAG|ATG	PHACTR1	-	NULL	ENSG00000112137		0.458	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039876.1	-	0	61	0	G	XM_166420		13228205	1	tier1	-	no_errors	ENST00000379350	ensembl	human	known	74_37	nonsense	10.39	69	8	SNP	1.000	T	T	13228205	G	T	13228205	4	4	133	1	0	0	0	0	0	1	0	0	11848	1291	45	3	1170	3	PHACTR1	6	13228205	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5854710	13228205	157886862	157	34079											
TDP2	51567	genome.wustl.edu	37	chr6	24666976	24666976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactgagccactgcggcatCgcagcttgcgaccgaggcaa	9	5	13	14	4	0	1	0	1	0	0	1	3	0	1	2	2	4	5	2	2	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:24666976C>T	ENST00000378198.4	-	1	285	c.115G>A	c.(115-117)Gat>Aat	p.D39N	TDP2_ENST00000341060.3_5'Flank|ACOT13_ENST00000537591.1_5'Flank|ACOT13_ENST00000230048.4_5'Flank|TDP2_ENST00000545995.1_Missense_Mutation_p.D69N			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	39					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						ACTGCGGCATCGCAGCTTGCG	0.627								Direct reversal of damage																																									0													166	180	175					6																	24666976		2203	4300	6503	SO:0001583	missense	0			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"TRAF and TNF receptor associated protein"	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.115G>A	6.37:g.24666976C>T	ENSP00000367440:p.Asp39Asn		B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like	p.D69N	ENST00000378198.4	37	c.205	CCDS4557.1	6	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801660	0.50315	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780	T;T	0.31247	1.61;1.5	5.09	2.36	0.29203	UBA-like (1);	0.144057	0.64402	N	0.000011	T	0.18800	0.0451	M	0.71581	2.175	0.21822	N	0.999524	D;D	0.57571	0.98;0.965	P;B	0.47626	0.552;0.241	T	0.06807	-1.0806	10	0.49607	T	0.09	-30.0107	6.5692	0.22529	0.0:0.6845:0.1493:0.1662	.	69;39	O95551-2;O95551	.;TYDP2_HUMAN	N	39;69;39	ENSP00000367440:D39N;ENSP00000437637:D69N	ENSP00000367440:D39N	D	-	1	0	TDP2	24774955	0.980000	0.34600	0.129000	0.21949	0.061000	0.15899	2.461000	0.45040	0.314000	0.23086	0.655000	0.94253	GAT	TDP2	-	superfamily_UBA-like	ENSG00000111802		0.627	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TDP2	HGNC	protein_coding	OTTHUMT00000040012.1	-	0	16	0	C			24666976	-1	tier1	-	no_errors	ENST00000545995	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.071	T	T	24666976	C	T	24666976	3	4	133	1	0	0	0	0	1	0	0	0	15776	884	31	1	1001	1	TDP2	6	24666976	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	11438771	24666976	146448091	158	34080											
SLC17A3	10786	genome.wustl.edu	37	chr6	25862543	25862543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaggaatcattgagctggGattgagggcttgtgctgttg	8	12	16	5	0	1	3	1	2	0	1	1	5	1	5	0	3	2	4	0	3	1	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:25862543G>T	ENST00000360657.3	-	3	506	c.221C>A	c.(220-222)tCc>tAc	p.S74Y	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S74Y|SLC17A3_ENST00000397060.4_Missense_Mutation_p.S74Y			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	74					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTGAGCTGGGATTGAGGGCT	0.448																																																	0													196	152	167					6																	25862543		2203	4300	6503	SO:0001583	missense	0			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.221C>A	6.37:g.25862543G>T	ENSP00000353873:p.Ser74Tyr		B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S74Y	ENST00000360657.3	37	c.221	CCDS4566.2	6	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259957	0.23051	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.63255	0.31;-0.03;-0.03	3.81	-0.919	0.10478	.	.	.	.	.	T	0.41465	0.1160	L	0.46157	1.445	0.09310	N	1	P;P;P;P	0.44380	0.561;0.834;0.834;0.561	B;P;P;B	0.52554	0.178;0.702;0.702;0.086	T	0.40757	-0.9546	9	0.87932	D	0	.	0.4997	0.00578	0.2806:0.1844:0.3468:0.1882	.	74;55;74;74	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	Y	74	ENSP00000380250:S74Y;ENSP00000353873:S74Y;ENSP00000355307:S74Y	ENSP00000353873:S74Y	S	-	2	0	SLC17A3	25970522	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	-0.358000	0.07641	-0.205000	0.10219	0.557000	0.71058	TCC	SLC17A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000124564		0.448	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	SLC17A3	HGNC	protein_coding	OTTHUMT00000040070.2		0	62	0	G			25862543	-1			no_errors	ENST00000397060	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.000	T	T	25862543	G	T	25862543	3	4	133	1	0	0	0	0	1	0	0	0	14463	1174	41	3	1315	3	SLC17A3	6	25862543	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1195567	25862543	145252524	159	34081											
ZKSCAN3	80317	genome.wustl.edu	37	chr6	28331149	28331149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggtagcttctaggcttaCtccagagtcccaggtgagct	8	11	12	10	0	1	2	0	1	1	1	3	2	3	2	2	3	3	4	2	3	3	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:28331149C>T	ENST00000377255.3	+	5	917	c.620C>T	c.(619-621)aCt>aTt	p.T207I	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.T59I|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.T207I	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	207				LT -> IP (in Ref. 6; AAB16813). {ECO:0000305}.	autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TCTAGGCTTACTCCAGAGTCC	0.542																																																	0													90	77	81					6																	28331149		2203	4300	6503	SO:0001583	missense	0			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.620C>T	6.37:g.28331149C>T	ENSP00000366465:p.Thr207Ile		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.T207I	ENST00000377255.3	37	c.620	CCDS4650.1	6	.	.	.	.	.	.	.	.	.	.	.	5.841	0.339468	0.11069	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.20463	2.07;2.07;2.07	2.99	2.05	0.26809	Krueppel-associated box (1);	.	.	.	.	T	0.04634	0.0126	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39143	-0.9628	9	0.56958	D	0.05	.	7.5146	0.27593	0.0:0.8529:0.0:0.1471	.	207	Q9BRR0	ZKSC3_HUMAN	I	207;59;207	ENSP00000252211:T207I;ENSP00000341883:T59I;ENSP00000366465:T207I	ENSP00000252211:T207I	T	+	2	0	ZKSCAN3	28439128	0.000000	0.05858	0.171000	0.22900	0.310000	0.27922	0.741000	0.26202	0.754000	0.32968	0.563000	0.77884	ACT	ZKSCAN3	-	superfamily_Krueppel-associated_box	ENSG00000189298		0.542	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN3	HGNC	protein_coding	OTTHUMT00000040189.3	-	0	57	0	C	NM_024493		28331149	1	tier1	-	no_errors	ENST00000252211	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.162	T	T	28331149	C	T	28331149	3	4	133	1	0	0	0	0	1	0	0	0	17736	565	20	3	630	3	ZKSCAN3	6	28331149	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2468606	28331149	142783918	160	34082											
ZFP57	4340	genome.wustl.edu	37	chr6	29641135	29641135	+	IGR	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggtaacccagatggacGcggcggtgacgacttagtcc	8	6	15	12	5	0	2	0	1	0	1	1	4	1	3	3	5	1	1	3	5	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:29641135G>C	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Silent_p.R231R|ZFP57_ENST00000376883.1_Silent_p.R231R|ZFP57_ENST00000488757.1_Silent_p.R251R	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						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						CCAGATGGACGCGGCGGTGAC	0.557																																																	0													81	89	86					6																	29641135		1347	2608	3955	SO:0001628	intergenic_variant	0				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		6.37:g.29641135G>C			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	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R251	ENST00000376917.3	37	c.753	CCDS34370.1	6																																																																																			ZFP57	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204644		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	ZFP57	HGNC	protein_coding	OTTHUMT00000076160.3	-	0	63	0	G	NM_002433		29641135	-1	tier1	-	no_errors	ENST00000488757	ensembl	human	known	74_37	silent	17.44	71	15	SNP	0.024	C	C	29641135	G	C	29641135	1	2	133	0	1	0	0	0	0	0	0	0	17699	1074	38	5		5	ZFP57	6	29641135	IGR	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1309986	29641135	141473932	161	34083											
C6orf136	221545	genome.wustl.edu	37	chr6	30615067	30615067	+	Missense_Mutation	SNP	A	A	T	1	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	cccttgcctgcgcgcctaccAggctcgaccccaggtgagcg	5	6	12	18	4	0	1	0	1	0	0	1	2	0	1	6	2	4	1	6	2	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:30615067A>T	ENST00000376473.5	+	1	218	c.59A>T	c.(58-60)cAg>cTg	p.Q20L	C6orf136_ENST00000493705.1_3'UTR|C6orf136_ENST00000293604.6_Missense_Mutation_p.Q20L|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000528347.2_5'Flank|C6orf136_ENST00000376471.4_Missense_Mutation_p.Q20L	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	20						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CGCGCCTACCAGGCTCGACCC	0.711																																																	0													17	20	19					6																	30615067		1768	3922	5690	SO:0001583	missense	0			BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.59A>T	6.37:g.30615067A>T	ENSP00000365656:p.Gln20Leu		A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	pfam_DUF2358	p.Q20L	ENST00000376473.5	37	c.59	CCDS43443.1	6	.	.	.	.	.	.	.	.	.	.	A	10.61	1.397856	0.25205	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471	.	.	.	4.97	4.97	0.65823	.	1.321840	0.04935	N	0.457658	T	0.47021	0.1423	L	0.29908	0.895	0.80722	D	1	B;D;B	0.54207	0.297;0.965;0.295	B;P;B	0.55785	0.202;0.784;0.081	T	0.29427	-1.0012	9	0.87932	D	0	.	11.0232	0.47730	1.0:0.0:0.0:0.0	.	20;20;20	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	L	20	.	ENSP00000293604:Q20L	Q	+	2	0	C6orf136	30723046	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	3.841000	0.55850	2.099000	0.63709	0.378000	0.23410	CAG	C6orf136	-	NULL	ENSG00000204564		0.711	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf136	HGNC	protein_coding	OTTHUMT00000076457.4	-	0	60	0	A	NM_145029		30615067	1	tier1	-	no_errors	ENST00000293604	ensembl	human	known	74_37	missense	10.10	89	10	SNP	1.000	T	T	30615067	A	T	30615067	3	4	133	1	0	0	0	0	1	0	0	0	2338	188	7	5	61	5	C6orf136	6	30615067	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	973932	30615067	140500000	162	34084											
HLA-DMA	3108	genome.wustl.edu	37	chr6	32917464	32917464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtcagaaggttctggtgtGaagtttaagtaagaaaaggc	14	11	13	3	0	2	3	1	1	1	2	2	3	2	3	0	3	0	3	0	3	6	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:32917464G>A	ENST00000374843.4	-	3	661	c.576C>T	c.(574-576)ttC>ttT	p.F192F	HLA-DMA_ENST00000395305.3_Silent_p.F97F|HLA-DMA_ENST00000395303.3_Silent_p.F158F|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	192	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						GTTCTGGTGTGAAGTTTAAGT	0.478																																																	0													77	74	75					6																	32917464		1510	2709	4219	SO:0001819	synonymous_variant	0				CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.576C>T	6.37:g.32917464G>A			Q29639|Q29640	Silent	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.F192	ENST00000374843.4	37	c.576	CCDS4761.1	6																																																																																			HLA-DMA	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000204257		0.478	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMA	HGNC	protein_coding	OTTHUMT00000076325.2	-	0	39	0	G	NM_006120		32917464	-1	tier1	-	no_errors	ENST00000374843	ensembl	human	known	74_37	silent	10.23	79	9	SNP	1.000	A	A	32917464	G	A	32917464	2	1	133	1	0	0	0	0	0	0	0	1	7225	1281	45	3		3	HLA-DMA	6	32917464	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2302397	32917464	138197603	163	34085											
ZBTB22	9278	genome.wustl.edu	37	chr6	33283128	33283128	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcagatggtgcttcatcttGaactttttgttgcacacggg	7	15	11	8	1	3	2	2	1	1	1	3	2	3	2	0	2	3	3	0	2	1	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:33283128G>A	ENST00000431845.2	-	2	1717	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.F522F|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCTTCATCTTGAACTTTTTGT	0.552																																																	0													129	125	126					6																	33283128		2203	4300	6503	SO:0001819	synonymous_variant	0			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1566C>T	6.37:g.33283128G>A			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F522	ENST00000431845.2	37	c.1566	CCDS4775.1	6																																																																																			ZBTB22	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000236104		0.552	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	-	0	56	0	G			33283128	-1	tier1	-	no_errors	ENST00000418724	ensembl	human	known	74_37	silent	14.75	52	9	SNP	1.000	A	A	33283128	G	A	33283128	2	1	133	1	0	0	0	0	0	0	0	1	17578	1281	45	3		3	ZBTB22	6	33283128	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	365664	33283128	137831939	164	34086											
ZBTB9	221504	genome.wustl.edu	37	chr6	33424232	33424232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggttccgagtccatgcctGttttctccgccaccgggacc	4	11	10	16	4	1	0	0	0	1	0	5	2	3	1	7	2	1	2	7	2	0	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:33424232G>T	ENST00000395064.2	+	2	1623	c.1355G>T	c.(1354-1356)tGt>tTt	p.C452F		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GTCCATGCCTGTTTTCTCCGC	0.582																																																	0													70	74	72					6																	33424232		2203	4300	6503	SO:0001583	missense	0			AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.1355G>T	6.37:g.33424232G>T	ENSP00000378503:p.Cys452Phe		A2AB19	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.C452F	ENST00000395064.2	37	c.1355	CCDS4780.1	6	.	.	.	.	.	.	.	.	.	.	G	1.069	-0.670546	0.03403	.	.	ENSG00000213588	ENST00000395064	T	0.06449	3.3	5.28	2.48	0.30137	Zinc finger, C2H2-like (1);	0.609538	0.14339	N	0.325834	T	0.01222	0.0040	L	0.31804	0.96	0.35252	D	0.778811	B	0.09022	0.002	B	0.08055	0.003	T	0.41680	-0.9495	10	0.09590	T	0.72	.	6.114	0.20116	0.1643:0.0:0.68:0.1557	.	452	Q96C00	ZBTB9_HUMAN	F	452	ENSP00000378503:C452F	ENSP00000378503:C452F	C	+	2	0	ZBTB9	33532210	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.091000	0.64505	0.351000	0.24027	0.655000	0.94253	TGT	ZBTB9	-	smart_Znf_C2H2-like	ENSG00000213588		0.582	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB9	HGNC	protein_coding	OTTHUMT00000276533.1	-	0	49	0	G	NM_152735		33424232	1	tier1	-	no_errors	ENST00000395064	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	T	T	33424232	G	T	33424232	3	4	133	1	0	0	0	0	1	0	0	0	17606	1377	48	3	1357	3	ZBTB9	6	33424232	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	141104	33424232	137690835	165	34087											
LEMD2	221496	genome.wustl.edu	37	chr6	33752154	33752154	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggccaggaaattgtaGagttcatgcagcagctccag	11	9	13	8	0	1	1	1	0	0	1	2	3	2	3	2	3	3	5	2	3	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:33752154G>T	ENST00000293760.5	-	3	847	c.828C>A	c.(826-828)ctC>ctA	p.L276L	LEMD2_ENST00000502643.1_5'Flank|LEMD2_ENST00000508327.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	276					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GGAAATTGTAGAGTTCATGCA	0.562																																																	0													121	109	113					6																	33752154		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.828C>A	6.37:g.33752154G>T			B4DVH5|E7EVT2|Q5T972|Q5T974	Silent	SNP	pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom	p.L276	ENST00000293760.5	37	c.828	CCDS4785.1	6																																																																																			LEMD2	-	pfam_Inner-Nucl-membr_MAN1	ENSG00000161904		0.562	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD2	HGNC	protein_coding	OTTHUMT00000040209.3	-	0	77	0	G	XM_166338		33752154	-1	tier1	-	no_errors	ENST00000293760	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.007	T	T	33752154	G	T	33752154	2	4	133	1	0	0	0	0	0	0	0	1	8748	929	33	3		3	LEMD2	6	33752154	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	327922	33752154	137362913	166	34088											
GLP1R	2740	genome.wustl.edu	37	chr6	39047379	39047379	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acactcatccccctgctgggGactcatgaggtcatctttgc	7	11	9	14	0	4	1	3	1	1	0	5	2	5	2	2	3	2	1	2	3	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:39047379G>T	ENST00000373256.4	+	11	1126	c.1083G>T	c.(1081-1083)ggG>ggT	p.G361G		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	361					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)	CCCTGCTGGGGACTCATGAGG	0.577																																																	0													90	85	87					6																	39047379		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1083G>T	6.37:g.39047379G>T			Q2M229|Q99669	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.G361	ENST00000373256.4	37	c.1083	CCDS4839.1	6																																																																																			GLP1R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000112164		0.577	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	HGNC	protein_coding	OTTHUMT00000040443.1	-	0	60	0	G			39047379	1	tier1	-	no_errors	ENST00000373256	ensembl	human	known	74_37	silent	6.52	86	6	SNP	0.990	T	T	39047379	G	T	39047379	2	4	133	1	0	0	0	0	0	0	0	1	6478	1161	41	3		3	GLP1R	6	39047379	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5295225	39047379	132067688	167	34089											
GUCA1A	2978	genome.wustl.edu	37	chr6	42141452	42141452	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgagtgcccctctggccaacTcaccctctatgagttccgcc	6	10	8	17	1	3	2	1	2	2	0	4	2	4	2	6	1	2	1	6	1	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:42141452T>C	ENST00000394237.1	+	3	1077	c.101T>C	c.(100-102)cTc>cCc	p.L34P	GUCA1A_ENST00000053469.4_Missense_Mutation_p.L34P|GUCA1A_ENST00000372958.1_Missense_Mutation_p.L34P|GUCA1A_ENST00000541991.1_Missense_Mutation_p.L34P			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	34	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTGGCCAACTCACCCTCTAT	0.547																																																	0													142	124	130					6																	42141452		2203	4300	6503	SO:0001583	missense	0				CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"EF-hand domain containing"	4678	protein-coding gene	gene with protein product	"cone dystrophy 3"	600364	"chromosome 6 open reading frame 131"	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.101T>C	6.37:g.42141452T>C	ENSP00000377784:p.Leu34Pro		B3KWT4|Q7Z6T1|Q9NU14	Missense_Mutation	SNP	pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.L34P	ENST00000394237.1	37	c.101	CCDS4864.1	6	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491738	0.84962	.	.	ENSG00000048545	ENST00000418175;ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.75	5.75	0.90469	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90150	0.6922	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92353	0.5891	10	0.87932	D	0	.	14.0228	0.64568	0.0:0.0:0.0:1.0	.	34	P43080	GUC1A_HUMAN	P	34;34;30;34;34;34	ENSP00000388438:L34P;ENSP00000437476:L34P;ENSP00000053469:L34P;ENSP00000377784:L34P;ENSP00000362049:L34P	ENSP00000053469:L34P	L	+	2	0	GUCA1A	42249430	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.194000	0.70268	0.533000	0.62120	CTC	GUCA1A	-	NULL	ENSG00000048545		0.547	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCA1A	HGNC	protein_coding	OTTHUMT00000316582.1		0	62	0	T			42141452	1			no_errors	ENST00000053469	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	C	C	42141452	T	C	42141452	3	2	133	1	0	0	0	0	1	0	0	0	6915	1551	54	4	103	4	GUCA1A	6	42141452	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	3094073	42141452	128973615	168	34090											
PGK2	5232	genome.wustl.edu	37	chr6	49754035	49754035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttctcgtcaaacttgtccCcagtaacaaaatcaacagga	14	9	6	12	2	3	0	2	0	1	0	5	1	4	1	2	1	3	2	2	1	5	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:49754035C>T	ENST00000304801.3	-	1	1018	c.866G>A	c.(865-867)gGg>gAg	p.G289E		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	289					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)					AAACTTGTCCCCAGTAACAAA	0.458																																																	0													150	148	148					6																	49754035		2203	4300	6503	SO:0001583	missense	0			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.866G>A	6.37:g.49754035C>T	ENSP00000305995:p.Gly289Glu		B2R6Y8|Q9H107	Missense_Mutation	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.G289E	ENST00000304801.3	37	c.866	CCDS4930.1	6	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917236	0.33815	.	.	ENSG00000170950	ENST00000304801	D	0.91351	-2.83	4.09	-0.419	0.12340	Phosphoglycerate kinase, C-terminal (1);	0.158321	0.56097	D	0.000034	D	0.86180	0.5871	L	0.46567	1.45	0.30507	N	0.769811	P	0.34757	0.467	P	0.46585	0.521	T	0.82880	-0.0238	10	0.87932	D	0	-4.413	16.1035	0.81203	0.0:0.6331:0.3669:0.0	.	289	P07205	PGK2_HUMAN	E	289	ENSP00000305995:G289E	ENSP00000305995:G289E	G	-	2	0	PGK2	49861994	1.000000	0.71417	0.728000	0.30774	0.472000	0.32918	4.118000	0.57884	-0.094000	0.12374	-1.141000	0.01876	GGG	PGK2	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase	ENSG00000170950		0.458	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK2	HGNC	protein_coding	OTTHUMT00000040872.1	-	0	56	0	C			49754035	-1	tier1	-	no_errors	ENST00000304801	ensembl	human	known	74_37	missense	9.86	64	7	SNP	0.951	T	T	49754035	C	T	49754035	3	4	133	1	0	0	0	0	1	0	0	0	11830	623	22	3	391	3	PGK2	6	49754035	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	7612583	49754035	121361032	169	34091											
ELOVL5	60481	genome.wustl.edu	37	chr6	53140028	53140028	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccataaattctatgagtttgGagaagtagtaccaccagagg	14	10	10	7	0	1	3	0	1	1	2	1	4	1	3	3	2	1	3	3	2	6	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:53140028G>C	ENST00000542638.1	-	5	803	c.356C>G	c.(355-357)tCc>tGc	p.S119C	MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000486973.1_5'Flank|ELOVL5_ENST00000304434.6_Missense_Mutation_p.S119C|ELOVL5_ENST00000370918.4_Missense_Mutation_p.S109C|ELOVL5_ENST00000541407.1_Missense_Mutation_p.S146C			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	119					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TATGAGTTTGGAGAAGTAGTA	0.463																																																	0													164	143	150					6																	53140028		2203	4300	6503	SO:0001583	missense	0			AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)", "spinocerebellar ataxia 38"	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.356C>G	6.37:g.53140028G>C	ENSP00000440728:p.Ser119Cys		B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.S146C	ENST00000542638.1	37	c.437	CCDS4951.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.265081	0.95399	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.90650	3.135	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	0.66085	-0.6011	10	0.62326	D	0.03	-15.9899	20.7342	0.99715	0.0:0.0:1.0:0.0	.	146;119;119	F6SH78;B3KWH9;Q9NYP7	.;.;ELOV5_HUMAN	C	109;119;119;146	ENSP00000359956:S109C;ENSP00000306640:S119C;ENSP00000440728:S119C;ENSP00000438095:S146C	ENSP00000306640:S119C	S	-	2	0	ELOVL5	53247987	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.807000	0.99171	2.906000	0.99361	0.655000	0.94253	TCC	ELOVL5	-	pfam_GNS1_SUR4	ENSG00000012660		0.463	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL5	HGNC	protein_coding	OTTHUMT00000043566.1	-	0	72	0	G	NM_021814		53140028	-1	tier1	-	no_errors	ENST00000541407	ensembl	human	known	74_37	missense	8.85	103	10	SNP	1.000	C	C	53140028	G	C	53140028	3	2	133	1	0	0	0	0	1	0	0	0	5093	1174	41	5	559	5	ELOVL5	6	53140028	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3385993	53140028	117975039	170	34092											
KHDRBS2	202559	genome.wustl.edu	37	chr6	62390931	62390931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctttgcggtggtgccttCaagctagagcgggttgtggc	5	11	16	9	2	1	1	1	0	0	1	1	2	1	1	2	4	4	2	2	4	2	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:62390931C>A	ENST00000281156.4	-	9	1265	c.987G>T	c.(985-987)ttG>ttT	p.L329F	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTGGTGCCTTCAAGCTAGAGC	0.468																																																	0													174	124	141					6																	62390931		2203	4300	6503	SO:0001583	missense	0			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.987G>T	6.37:g.62390931C>A	ENSP00000281156:p.Leu329Phe		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.L329F	ENST00000281156.4	37	c.987	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906370	0.52333	.	.	ENSG00000112232	ENST00000281156	T	0.46451	0.87	5.13	2.93	0.34026	.	0.072061	0.56097	D	0.000032	T	0.24314	0.0589	L	0.32530	0.975	0.47778	D	0.999513	D	0.69078	0.997	P	0.60789	0.879	T	0.14448	-1.0472	10	0.13108	T	0.6	.	4.3383	0.11097	0.0:0.5268:0.0:0.4732	.	329	Q5VWX1	KHDR2_HUMAN	F	329	ENSP00000281156:L329F	ENSP00000281156:L329F	L	-	3	2	KHDRBS2	62448890	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.353000	0.44089	1.292000	0.44672	0.650000	0.86243	TTG	KHDRBS2	-	NULL	ENSG00000112232		0.468	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2	-	0	53	0	C	NM_152688		62390931	-1	tier1	-	no_errors	ENST00000281156	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	A	A	62390931	C	A	62390931	3	1	133	1	0	0	0	0	1	0	0	0	8174	825	29	3	66	3	KHDRBS2	6	62390931	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	9250903	62390931	108724136	171	34093											
EYS	346007	genome.wustl.edu	37	chr6	66205078	66205078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttgcaaagggcaaatctGgggaacagcttgattgcctg	12	10	12	7	0	1	1	0	1	1	0	1	2	1	2	1	3	4	3	1	3	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:66205078G>T	ENST00000370621.3	-	4	752	c.226C>A	c.(226-228)Cag>Aag	p.Q76K	EYS_ENST00000342421.5_Missense_Mutation_p.Q76K|EYS_ENST00000370616.2_Missense_Mutation_p.Q76K|EYS_ENST00000393380.2_Missense_Mutation_p.Q76K|EYS_ENST00000370618.3_Missense_Mutation_p.Q76K|EYS_ENST00000503581.1_Missense_Mutation_p.Q76K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	76					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						GGGCAAATCTGGGGAACAGCT	0.358																																																	0													89	89	89					6																	66205078		2203	4300	6503	SO:0001583	missense	0				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.226C>A	6.37:g.66205078G>T	ENSP00000359655:p.Gln76Lys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q76K	ENST00000370621.3	37	c.226		6	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601380	0.66445	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.92595	-2.48;-2.46;-2.46;-3.07;-3.0;-3.0	4.92	3.13	0.36017	.	.	.	.	.	D	0.84597	0.5507	N	0.24115	0.695	0.20764	N	0.999858	D;D;D	0.76494	0.967;0.999;0.999	P;D;P	0.65443	0.756;0.935;0.903	T	0.76293	-0.3012	9	0.12766	T	0.61	.	9.0572	0.36412	0.1756:0.0:0.8244:0.0	.	76;76;76	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	K	76	ENSP00000424243:Q76K;ENSP00000359655:Q76K;ENSP00000359650:Q76K;ENSP00000377042:Q76K;ENSP00000341818:Q76K;ENSP00000359652:Q76K	ENSP00000341818:Q76K	Q	-	1	0	EYS	66261799	1.000000	0.71417	0.021000	0.16686	0.947000	0.59692	4.043000	0.57354	0.581000	0.29539	0.591000	0.81541	CAG	EYS	-	NULL	ENSG00000188107		0.358	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	38	0	G	XM_294050		66205078	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	12.12	58	8	SNP	1.000	T	T	66205078	G	T	66205078	3	4	133	1	0	0	0	0	1	0	0	0	5348	1357	47	3	9330	3	EYS	6	66205078	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3814147	66205078	104909989	172	34094											
LMBRD1	55788	genome.wustl.edu	37	chr6	70447905	70447905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgacaatgcagctaaacCatctgtgaagaaagaaaaac	21	6	7	7	0	1	4	0	2	1	2	1	4	1	4	1	0	4	2	1	0	8	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:70447905C>A	ENST00000370577.3	-	7	794	c.565G>T	c.(565-567)Ggt>Tgt	p.G189C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.G116C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	189					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						GCAGCTAAACCATCTGTGAAG	0.323																																																	0													47	45	46					6																	70447905		2202	4297	6499	SO:0001583	missense	0			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.565G>T	6.37:g.70447905C>A	ENSP00000359609:p.Gly189Cys		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.G189C	ENST00000370577.3	37	c.565	CCDS4969.1	6	.	.	.	.	.	.	.	.	.	.	c	24.1	4.496476	0.85069	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.30182	1.54;1.54	5.95	5.95	0.96441	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	M	0.84326	2.69	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.46527	-0.9185	10	0.39692	T	0.17	-13.78	19.1739	0.93594	0.0:1.0:0.0:0.0	.	189	Q9NUN5	LMBD1_HUMAN	C	189;116	ENSP00000359609:G189C;ENSP00000359602:G116C	ENSP00000359602:G116C	G	-	1	0	LMBRD1	70504626	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.706000	0.74649	2.827000	0.97445	0.650000	0.86243	GGT	LMBRD1	-	pfam_LMBR1-like_membr_prot	ENSG00000168216		0.323	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1		0	53	0	C	NM_018368		70447905	-1			no_errors	ENST00000370577	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	A	A	70447905	C	A	70447905	3	1	133	1	0	0	0	0	1	0	0	0	8872	594	21	3	1097	3	LMBRD1	6	70447905	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	4242827	70447905	100667162	173	34095											
COL19A1	1310	genome.wustl.edu	37	chr6	70646735	70646735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggtaactgctcatgccaGtaaaatgtcttcatatctgc	11	13	8	9	0	4	0	2	0	2	0	4	0	4	0	1	1	4	3	1	1	4	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:70646735G>T	ENST00000322773.4	+	8	908	c.806G>T	c.(805-807)aGt>aTt	p.S269I		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	269					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						GCTCATGCCAGTAAAATGTCT	0.428																																																	0													169	159	162					6																	70646735		2203	4300	6503	SO:0001583	missense	0				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.806G>T	6.37:g.70646735G>T	ENSP00000316030:p.Ser269Ile		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.S269I	ENST00000322773.4	37	c.806	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	5.949	0.359052	0.11239	.	.	ENSG00000082293	ENST00000322773	D	0.91894	-2.93	5.37	5.37	0.77165	.	0.553942	0.19523	N	0.112231	D	0.88074	0.6339	L	0.47716	1.5	0.80722	D	1	P	0.43169	0.8	B	0.43575	0.424	D	0.87004	0.2118	10	0.33141	T	0.24	.	17.6565	0.88179	0.0:0.0:1.0:0.0	.	269	Q14993	COJA1_HUMAN	I	269	ENSP00000316030:S269I	ENSP00000316030:S269I	S	+	2	0	COL19A1	70703456	0.989000	0.36119	0.025000	0.17156	0.087000	0.18053	4.395000	0.59678	2.677000	0.91161	0.655000	0.94253	AGT	COL19A1	-	NULL	ENSG00000082293		0.428	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	-	0	66	0	G			70646735	1	tier1	-	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.057	T	T	70646735	G	T	70646735	3	4	133	1	0	0	0	0	1	0	0	0	3683	1029	36	3	832	3	COL19A1	6	70646735	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	198830	70646735	100468332	174	34096											
COL12A1	1303	genome.wustl.edu	37	chr6	75843646	75843646	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatttccctctgcatggtcCcagcggacattcaaggtgct	7	11	11	12	1	2	0	1	0	1	0	4	2	4	2	2	4	3	2	2	4	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:75843646C>T	ENST00000322507.8	-	33	5901	c.5592G>A	c.(5590-5592)tgG>tgA	p.W1864*	COL12A1_ENST00000345356.6_Nonsense_Mutation_p.W700*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.W1864*|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.W1864*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1864	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						CTGCATGGTCCCAGCGGACAT	0.448																																																	0													111	105	107					6																	75843646		1937	4145	6082	SO:0001587	stop_gained	0			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.5592G>A	6.37:g.75843646C>T	ENSP00000325146:p.Trp1864*		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.W1864*	ENST00000322507.8	37	c.5592	CCDS43482.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.557217|12.557217	0.99678|0.99678	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.34658|.	0.0905|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34304|.	-0.9834|.	3|.	.|0.02654	.|T	.|1	.|.	20.3932|20.3932	0.98965|0.98965	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	599|1864;1864;700;1864;1864	.|.	.|ENSP00000325146:W1864X	G|W	-|-	1|3	0|0	COL12A1|COL12A1	75900366|75900366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GGA|TGG	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.448	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	57	0	C	NM_004370		75843646	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	nonsense	7.95	81	7	SNP	1.000	T	T	75843646	C	T	75843646	4	4	133	1	0	0	0	0	0	1	0	0	3676	624	22	3	3735	3	COL12A1	6	75843646	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	5196911	75843646	95271421	175	34097											
IBTK	25998	genome.wustl.edu	37	chr6	82924380	82924380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgaaagaaacaatttctGaaaaaaatcagaatgcactg	20	9	6	6	0	3	4	1	2	2	2	3	4	3	4	0	0	2	1	0	0	7	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:82924380G>C	ENST00000306270.7	-	12	2317	c.1768C>G	c.(1768-1770)Cag>Gag	p.Q590E	IBTK_ENST00000503631.1_Intron|IBTK_ENST00000510291.1_Missense_Mutation_p.Q590E	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	590	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		AACAATTTCTGAAAAAAATCA	0.363																																																	0													48	49	49					6																	82924380		2203	4300	6503	SO:0001583	missense	0			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.1768C>G	6.37:g.82924380G>C	ENSP00000305721:p.Gln590Glu		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.Q590E	ENST00000306270.7	37	c.1768	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747364	0.30955	.	.	ENSG00000005700	ENST00000306270;ENST00000510291	T;T	0.66460	-0.21;-0.21	5.71	4.77	0.60923	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.158814	0.53938	D	0.000058	T	0.20981	0.0505	N	0.12471	0.22	0.26256	N	0.978657	B;B;B	0.27286	0.061;0.174;0.061	B;B;B	0.26416	0.058;0.069;0.058	T	0.14559	-1.0468	10	0.02654	T	1	-8.2742	10.1204	0.42616	0.0:0.1092:0.6911:0.1998	.	590;590;590	E7EPI0;Q9P2D0-2;Q9P2D0	.;.;IBTK_HUMAN	E	590	ENSP00000305721:Q590E;ENSP00000426405:Q590E	ENSP00000305721:Q590E	Q	-	1	0	IBTK	82981099	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.607000	0.46300	2.699000	0.92147	0.655000	0.94253	CAG	IBTK	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000005700		0.363	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2		0	37	0	G	NM_015525		82924380	-1			no_errors	ENST00000306270	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	C	C	82924380	G	C	82924380	3	2	133	1	0	0	0	0	1	0	0	0	7503	1299	45	5	2365	5	IBTK	6	82924380	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	7080734	82924380	88190687	176	34098											
COL10A1	1300	genome.wustl.edu	37	chr6	116441947	116441947	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctagtacctggtattccaggGgcacctcttgggccagcctc	6	10	11	14	0	1	0	0	0	1	0	3	0	2	0	5	4	2	3	5	4	3	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:116441947G>T	ENST00000327673.4	-	2	1739	c.1332C>A	c.(1330-1332)gcC>gcA	p.A444A	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_5'Flank|COL10A1_ENST00000243222.4_Silent_p.A444A			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	444	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTATTCCAGGGGCACCTCTTG	0.622																																																	0													30	31	31					6																	116441947		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"Collagens"	2185	protein-coding gene	gene with protein product	"Schmid metaphyseal chondrodysplasia"	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.1332C>A	6.37:g.116441947G>T			A1L4P2	Silent	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.A444	ENST00000327673.4	37	c.1332	CCDS5105.1	6																																																																																			COL10A1	-	NULL	ENSG00000123500		0.622	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL10A1	HGNC	protein_coding	OTTHUMT00000041926.1	-	0	65	0	G			116441947	-1	tier1	-	no_errors	ENST00000243222	ensembl	human	known	74_37	silent	6.33	74	5	SNP	0.000	T	T	116441947	G	T	116441947	2	4	133	1	0	0	0	0	0	0	0	1	3673	1219	43	3		3	COL10A1	6	116441947	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	33517567	116441947	54673120	177	34099											
TPD52L1	7164	genome.wustl.edu	37	chr6	125574899	125574899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccataagtatgcctgctatGaggtaatgtgtgtaaaatat	13	14	9	5	0	0	1	0	1	0	0	1	1	1	1	2	1	2	4	2	1	7	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:125574899G>T	ENST00000534000.1	+	5	719	c.423G>T	c.(421-423)atG>atT	p.M141I	TPD52L1_ENST00000532429.1_Missense_Mutation_p.M112I|TPD52L1_ENST00000368402.5_Missense_Mutation_p.M141I|TPD52L1_ENST00000304877.13_Missense_Mutation_p.M146I|TPD52L1_ENST00000527711.1_Intron|TPD52L1_ENST00000534199.1_Intron|TPD52L1_ENST00000368388.2_Intron|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000524679.1_Intron|TPD52L1_ENST00000392482.2_Intron|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000528193.1_Missense_Mutation_p.M141I	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	141					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		TGCCTGCTATGAGGTAATGTG	0.313																																																	0													87	90	89					6																	125574899		2203	4300	6503	SO:0001583	missense	0			U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.423G>T	6.37:g.125574899G>T	ENSP00000434142:p.Met141Ile		A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	pfam_TPD52	p.M141I	ENST00000534000.1	37	c.423	CCDS5130.1	6	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227958	0.79576	.	.	ENSG00000111907	ENST00000304877;ENST00000534000;ENST00000368402;ENST00000528193;ENST00000532429;ENST00000392484	T;T;T;T;T	0.44083	1.92;1.92;0.93;1.92;1.92	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	L	0.52126	1.63	0.80722	D	1	P;D	0.54964	0.908;0.969	P;D	0.70227	0.888;0.968	T	0.35943	-0.9768	10	0.36615	T	0.2	-20.5447	18.1962	0.89822	0.0:0.0:1.0:0.0	.	141;141	Q16890-2;Q16890	.;TPD53_HUMAN	I	146;141;141;141;112;141	ENSP00000306285:M146I;ENSP00000434142:M141I;ENSP00000357387:M141I;ENSP00000434743:M141I;ENSP00000435447:M112I	ENSP00000306285:M146I	M	+	3	0	TPD52L1	125616598	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.543000	0.82106	2.674000	0.91012	0.655000	0.94253	ATG	TPD52L1	-	pfam_TPD52	ENSG00000111907		0.313	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPD52L1	HGNC	protein_coding	OTTHUMT00000042065.2	-	0	54	0	G			125574899	1	tier1	-	no_errors	ENST00000534000	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	125574899	G	T	125574899	3	4	133	1	0	0	0	0	1	0	0	0	16446	1290	45	3	441	3	TPD52L1	6	125574899	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	9132952	125574899	45540168	178	34100											
TXLNB	167838	genome.wustl.edu	37	chr6	139564250	139564250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacactattaacctcctctgCgtcaatctcttgatccacag	10	12	5	14	1	3	1	1	1	2	0	6	2	5	1	3	0	2	0	3	0	3	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:139564250C>T	ENST00000358430.3	-	10	1700	c.1468G>A	c.(1468-1470)Gca>Aca	p.A490T	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	490						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)		ACCTCCTCTGCGTCAATCTCT	0.458																																																	0													119	122	121					6																	139564250		2203	4300	6503	SO:0001583	missense	0				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.1468G>A	6.37:g.139564250C>T	ENSP00000351206:p.Ala490Thr		Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	pfam_Taxilin_fam	p.A490T	ENST00000358430.3	37	c.1468	CCDS34545.1	6	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880748	0.33255	.	.	ENSG00000164440	ENST00000358430	T	0.15718	2.4	6.06	1.15	0.20763	.	0.869260	0.10439	N	0.674536	T	0.02230	0.0069	N	0.19112	0.55	0.09310	N	1	B	0.25312	0.123	B	0.12837	0.008	T	0.47209	-0.9135	9	.	.	.	-1.4245	2.1403	0.03772	0.1204:0.4386:0.1171:0.3239	.	490	Q8N3L3	TXLNB_HUMAN	T	490	ENSP00000351206:A490T	.	A	-	1	0	TXLNB	139605943	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.913000	0.04042	-0.071000	0.12886	-0.176000	0.13171	GCA	TXLNB	-	NULL	ENSG00000164440		0.458	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	HGNC	protein_coding	OTTHUMT00000042458.1	-	0	80	0	C	NM_153235		139564250	-1	tier1	-	no_errors	ENST00000358430	ensembl	human	known	74_37	missense	11.22	87	11	SNP	0.000	T	T	139564250	C	T	139564250	3	4	133	1	0	0	0	0	1	0	0	0	16837	768	27	1	590	1	TXLNB	6	139564250	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	13989351	139564250	31550817	179	34101											
SHPRH	257218	genome.wustl.edu	37	chr6	146269407	146269407	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataagtaaaattttgccttaCcagcctgtatatggattata	14	15	6	6	0	0	0	0	0	0	0	0	1	0	1	3	1	3	2	3	1	8	9			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:146269407C>T	ENST00000367505.2	-	5	1326		c.e5+1		SHPRH_ENST00000438092.2_Splice_Site|SHPRH_ENST00000275233.7_Splice_Site|SHPRH_ENST00000367503.3_Splice_Site			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase						DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTTTGCCTTACCAGCCTGTAT	0.318																																																	0													61	59	60					6																	146269407		1791	4059	5850	SO:0001630	splice_region_variant	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1061+1G>A	6.37:g.146269407C>T			Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Splice_Site	SNP	-	e4+1	ENST00000367505.2	37	c.1061+1	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622675	0.87460	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5344	0.91004	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHPRH	146311100	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.031000	0.76491	2.826000	0.97356	0.655000	0.94253	.	SHPRH	-	-	ENSG00000146414		0.318	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	-	0	103	0	C	NM_173082	Intron	146269407	-1	tier1	-	no_errors	ENST00000367503	ensembl	human	known	74_37	splice_site	6.09	108	7	SNP	1.000	T	T	146269407	C	T	146269407	5	4	133	1	0	0	0	0	0	0	1	0	14336	521	18	3	4137	3	SHPRH	6	146269407	Splice_Site	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	6705157	146269407	24845660	180	34102											
ZC3H12D	340152	genome.wustl.edu	37	chr6	149771832	149771832	+	Missense_Mutation	SNP	A	A	T	1	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	tggtcccttagggcttgcccAggggcgcccccgcgctctgg	2	8	15	16	3	1	0	0	0	1	0	2	0	2	0	4	5	1	2	4	5	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:149771832A>T	ENST00000409806.3	-	6	1889	c.1571T>A	c.(1570-1572)cTg>cAg	p.L524Q	ZC3H12D_ENST00000498662.1_5'Flank|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.L524Q|ZC3H12D_ENST00000416573.2_3'UTR			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	524					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GGGCTTGCCCAGGGGCGCCCC	0.667																																																	0													10	12	11					6																	149771832		692	1588	2280	SO:0001583	missense	0					6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"Zinc fingers, CCCH-type domain containing"	21175	protein-coding gene	gene with protein product	"MCP induced protein 4"	611106	"chromosome 6 open reading frame 95"	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.1571T>A	6.37:g.149771832A>T	ENSP00000386616:p.Leu524Gln		A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.L524Q	ENST00000409806.3	37	c.1571		6	.	.	.	.	.	.	.	.	.	.	A	12.48	1.949656	0.34377	.	.	ENSG00000178199	ENST00000389942;ENST00000409806	T;T	0.37915	1.17;1.17	3.49	-1.64	0.08318	.	.	.	.	.	T	0.07728	0.0194	N	0.24115	0.695	0.09310	N	0.999997	B	0.18461	0.028	B	0.12156	0.007	T	0.35400	-0.9790	9	0.72032	D	0.01	0.317	3.6217	0.08099	0.3301:0.0:0.4574:0.2125	.	524	A2A288	ZC12D_HUMAN	Q	524	ENSP00000374592:L524Q;ENSP00000386616:L524Q	ENSP00000374592:L524Q	L	-	2	0	ZC3H12D	149813525	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.664000	0.05292	-0.179000	0.10654	-0.496000	0.04628	CTG	ZC3H12D	-	NULL	ENSG00000178199		0.667	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	ZC3H12D	HGNC	protein_coding	OTTHUMT00000286400.2	-	0	50	0	A	NM_207360		149771832	-1	tier1	-	no_errors	ENST00000389942	ensembl	human	known	74_37	missense	8.64	74	7	SNP	0.000	T	T	149771832	A	T	149771832	3	4	133	1	0	0	0	0	1	0	0	0	17612	188	7	5	16	5	ZC3H12D	6	149771832	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	3502425	149771832	21343235	181	34103											
SYNE1	23345	genome.wustl.edu	37	chr6	152675824	152675824	+	Silent	SNP	T	T	C	0	1	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	tgtaattgtatctccttggtTgccctgttagactgacgtct	6	17	9	9	1	2	2	0	1	2	1	3	2	2	2	2	1	1	4	2	1	3	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:152675824T>C	ENST00000367255.5	-	67	11497	c.10896A>G	c.(10894-10896)gcA>gcG	p.A3632A	SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000265368.4_Silent_p.A3632A|SYNE1_ENST00000341594.5_Silent_p.A3603A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3632					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)		TCTCCTTGGTTGCCCTGTTAG	0.403										HNSCC(10;0.0054)																																							0													261	229	240					6																	152675824		2203	4300	6503	SO:0001819	synonymous_variant	0			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.10896A>G	6.37:g.152675824T>C			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A3632	ENST00000367255.5	37	c.10896	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	65	0	T	NM_182961		152675824	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	6.59	85	6	SNP	0.097	C	C	152675824	T	C	152675824	2	2	133	1	0	0	0	0	0	0	0	1	15492	1799	63	4		4	SYNE1	6	152675824	Silent	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	2903992	152675824	18439243	182	34104											
RBM16	22828	genome.wustl.edu	37	chr6	155141311	155141311	+	Splice_Site	SNP	A	A	T	1	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	cctcttcccatttacaatagAtcgcttgggctttaaacaaa	12	13	5	11	1	1	1	0	0	1	1	3	1	2	1	2	1	2	2	2	1	6	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:155141311A>T	ENST00000367178.3	+	15	2212	c.1636A>T	c.(1636-1638)Atc>Ttc	p.I546F	SCAF8_ENST00000417268.1_Splice_Site_p.I546F|SCAF8_ENST00000367186.4_Splice_Site_p.I612F	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	546	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						TTTACAATAGATCGCTTGGGC	0.294																																																	0													69	66	67					6																	155141311		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1636-1A>T	6.37:g.155141311A>T			B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.I612F	ENST00000367178.3	37	c.1834	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799545	0.70567	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.51071	0.72;0.72;0.72	5.24	5.24	0.73138	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.64402	U	0.000001	T	0.68796	0.3040	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.995;0.999	D;D;D;D	0.78314	0.991;0.991;0.979;0.991	T	0.76537	-0.2923	9	.	.	.	.	15.4394	0.75171	1.0:0.0:0.0:0.0	.	591;612;624;546	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	F	546;546;612	ENSP00000356146:I546F;ENSP00000413098:I546F;ENSP00000356154:I612F	.	I	+	1	0	SCAF8	155183003	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	9.287000	0.95975	2.098000	0.63641	0.533000	0.62120	ATC	SCAF8	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000213079		0.294	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	-	0	83	0	A	NM_014892	Missense_Mutation	155141311	1	tier1	-	no_errors	ENST00000367186	ensembl	human	known	74_37	missense	6.20	121	8	SNP	1.000	T	T	155141311	A	T	155141311	5	4	133	1	0	0	0	0	0	0	1	0	13163	347	12	5	1694	5	RBM16	6	155141311	Splice_Site	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	2465487	155141311	15973756	183	34105											
TCP1	6950	genome.wustl.edu	37	chr6	160206497	160206497	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagttcatctgtgttaacaaTtaggttttcattgatataac	12	17	6	6	0	3	1	2	1	1	0	3	1	3	1	0	1	2	3	0	1	5	8			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:160206497T>A	ENST00000321394.7	-	5	689	c.409A>T	c.(409-411)Att>Ttt	p.I137F	TCP1_ENST00000546023.1_5'Flank|SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000420894.2_Missense_Mutation_p.I137F|TCP1_ENST00000392168.2_5'UTR|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	137					'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)		GTGTTAACAATTAGGTTTTCA	0.383																																																	0													187	164	172					6																	160206497		2203	4300	6503	SO:0001583	missense	0			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.409A>T	6.37:g.160206497T>A	ENSP00000317334:p.Ile137Phe		E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_alpha	p.I137F	ENST00000321394.7	37	c.409	CCDS5269.1	6	.	.	.	.	.	.	.	.	.	.	T	17.24	3.338685	0.60963	.	.	ENSG00000120438	ENST00000321394;ENST00000420894;ENST00000538128;ENST00000539948	T;T;T	0.78707	-1.2;-1.2;-1.2	5.76	5.76	0.90799	.	0.045790	0.85682	D	0.000000	T	0.62901	0.2466	L	0.58101	1.795	0.80722	D	1	B;B	0.21520	0.057;0.015	B;B	0.24848	0.056;0.016	T	0.67221	-0.5725	10	0.56958	D	0.05	-31.3247	8.916	0.35581	0.0:0.1094:0.0:0.8906	.	137;137	E7ERF2;P17987	.;TCPA_HUMAN	F	137;137;17;115	ENSP00000317334:I137F;ENSP00000390159:I137F;ENSP00000439671:I115F	ENSP00000317334:I137F	I	-	1	0	TCP1	160126487	1.000000	0.71417	0.019000	0.16419	0.986000	0.74619	4.683000	0.61679	2.324000	0.78689	0.533000	0.62120	ATT	TCP1	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_alpha	ENSG00000120438		0.383	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP1	HGNC	protein_coding	OTTHUMT00000042917.2	-	0	59	0	T	NM_030752		160206497	-1	tier1	-	no_errors	ENST00000321394	ensembl	human	known	74_37	missense	13.11	53	8	SNP	0.002	A	A	160206497	T	A	160206497	3	1	133	1	0	0	0	0	1	0	0	0	15756	1493	52	5	1293	5	TCP1	6	160206497	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	5065186	160206497	10908570	184	34106											
MRPL18	29074	genome.wustl.edu	37	chr6	160212043	160212043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtggaccctgtggaaaatGaagctgtcgccccagaattc	12	8	11	10	1	0	2	0	1	0	1	2	4	0	4	3	2	1	1	3	2	5	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:160212043G>A	ENST00000367034.4	+	2	246	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	TCP1_ENST00000321394.7_5'Flank|TCP1_ENST00000546023.1_5'Flank|TCP1_ENST00000420894.2_5'Flank|MRPL18_ENST00000480842.1_3'UTR|TCP1_ENST00000392168.2_5'Flank|TCP1_ENST00000544255.1_5'Flank	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	42					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		TGTGGAAAATGAAGCTGTCGC	0.612																																																	0													31	34	33					6																	160212043		2203	4300	6503	SO:0001583	missense	0			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"Mitochondrial ribosomal proteins / large subunits"	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.124G>A	6.37:g.160212043G>A	ENSP00000356001:p.Glu42Lys		Q5TAP9|Q9NZW8	Missense_Mutation	SNP	pfam_Ribosomal_L18/L5	p.E42K	ENST00000367034.4	37	c.124	CCDS5270.1	6	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753849	0.69648	.	.	ENSG00000112110	ENST00000367034	T	0.49139	0.79	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	M	0.68952	2.095	0.80722	D	1	P	0.40050	0.7	B	0.37480	0.251	T	0.40831	-0.9542	10	0.44086	T	0.13	-15.0749	19.2079	0.93742	0.0:0.0:1.0:0.0	.	42	Q9H0U6	RM18_HUMAN	K	42	ENSP00000356001:E42K	ENSP00000356001:E42K	E	+	1	0	MRPL18	160132033	1.000000	0.71417	0.983000	0.44433	0.590000	0.36582	7.309000	0.78937	2.768000	0.95171	0.655000	0.94253	GAA	MRPL18	-	NULL	ENSG00000112110		0.612	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL18	HGNC	protein_coding	OTTHUMT00000042925.1	-	0	88	0	G			160212043	1	tier1	-	no_errors	ENST00000367034	ensembl	human	known	74_37	missense	8.13	113	10	SNP	1.000	A	A	160212043	G	A	160212043	3	1	133	1	0	0	0	0	1	0	0	0	9821	1291	45	3	130	3	MRPL18	6	160212043	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5546	160212043	10903024	185	34107											
SLC22A2	6582	genome.wustl.edu	37	chr6	160664752	160664752	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagagtagaagaaatccagGtagatattgtcacctgcaag	15	8	11	7	0	1	4	1	0	0	4	2	4	2	4	2	1	1	4	2	1	6	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:160664752G>T	ENST00000366953.3	-	7	1389	c.1131C>A	c.(1129-1131)taC>taA	p.Y377*	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	377					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	AGAAATCCAGGTAGATATTGT	0.532																																																	0													107	97	101					6																	160664752		2203	4300	6503	SO:0001587	stop_gained	0			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1131C>A	6.37:g.160664752G>T	ENSP00000355920:p.Tyr377*		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.Y377*	ENST00000366953.3	37	c.1131	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	g	36	5.957013	0.97145	.	.	ENSG00000112499	ENST00000366953	.	.	.	5.35	2.43	0.29744	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7769	0.40626	0.3311:0.0:0.6689:0.0	.	.	.	.	X	377	.	ENSP00000355920:Y377X	Y	-	3	2	SLC22A2	160584742	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	0.795000	0.26972	0.849000	0.35215	-0.119000	0.15052	TAC	SLC22A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000112499		0.532	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1	-	0	52	0	G	NM_003058		160664752	-1	tier1	-	no_errors	ENST00000366953	ensembl	human	known	74_37	nonsense	19.77	69	17	SNP	1.000	T	T	160664752	G	T	160664752	4	4	133	1	0	0	0	0	0	1	0	0	14495	1256	44	3	556	3	SLC22A2	6	160664752	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	452709	160664752	10450315	186	34108											
PACRG	135138	genome.wustl.edu	37	chr6	163483273	163483273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctatgagttttttgctcGgcaaggaatccacgacatgc	9	12	9	11	2	0	1	0	1	0	0	3	3	2	2	2	2	2	3	2	2	3	4	rs370616018		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:163483273G>T	ENST00000337019.3	+	4	607	c.383G>T	c.(382-384)cGg>cTg	p.R128L	PACRG_ENST00000366888.2_Missense_Mutation_p.R128L|PACRG_ENST00000366889.2_Missense_Mutation_p.R128L	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	128					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)		TTTTTTGCTCGGCAAGGAATC	0.423																																																	0													97	94	95					6																	163483273		2203	4300	6503	SO:0001583	missense	0			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.383G>T	6.37:g.163483273G>T	ENSP00000337946:p.Arg128Leu		E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold	p.R128L	ENST00000337019.3	37	c.383	CCDS5284.1	6	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228054	0.39399	.	.	ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888	T;T;T	0.62941	0.31;-0.01;-0.01	4.85	4.85	0.62838	.	0.179187	0.49916	D	0.000131	T	0.46852	0.1414	L	0.56340	1.77	0.80722	D	1	B;B	0.32245	0.182;0.361	B;B	0.34093	0.062;0.175	T	0.48222	-0.9054	10	0.22109	T	0.4	-19.5539	18.3664	0.90392	0.0:0.0:1.0:0.0	.	128;128	Q96M98-2;Q96M98	.;PACRG_HUMAN	L	128	ENSP00000337946:R128L;ENSP00000355855:R128L;ENSP00000355854:R128L	ENSP00000337946:R128L	R	+	2	0	PACRG	163403263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.366000	0.97143	2.401000	0.81631	0.609000	0.83330	CGG	PACRG	-	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold	ENSG00000112530		0.423	PACRG-003	KNOWN	basic|CCDS	protein_coding	PACRG	HGNC	protein_coding	OTTHUMT00000400424.1	-	0	61	0	G	NM_152410		163483273	1	tier1	-	no_errors	ENST00000337019	ensembl	human	known	74_37	missense	6.25	75	5	SNP	0.971	T	T	163483273	G	T	163483273	3	4	133	1	0	0	0	0	1	0	0	0	11409	1116	39	2	393	2	PACRG	6	163483273	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2818521	163483273	7631794	187	34109											
WDR27	253769	genome.wustl.edu	37	chr6	170068164	170068164	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcaccgggcccaggtggcCctgcagctcggcccgaacag	7	4	14	16	3	1	0	1	0	0	0	2	1	1	0	4	4	3	2	4	4	1	0	rs201924195		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr6:170068164C>G	ENST00000448612.1	-	5	683	c.574G>C	c.(574-576)Ggc>Cgc	p.G192R	WDR27_ENST00000546525.1_5'Flank|WDR27_ENST00000333572.6_Missense_Mutation_p.G192R|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000420344.2_Intron	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	162						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCCAGGTGGCCCTGCAGCTCG	0.592																																																	0													74	90	85					6																	170068164		2060	4191	6251	SO:0001583	missense	0			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.574G>C	6.37:g.170068164C>G	ENSP00000416289:p.Gly192Arg		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G192R	ENST00000448612.1	37	c.574	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066614	0.76301	.	.	ENSG00000184465	ENST00000448612;ENST00000333572	T;T	0.70749	-0.51;-0.51	5.25	5.25	0.73442	.	0.156624	0.39834	N	0.001256	T	0.82268	0.5000	M	0.89840	3.065	0.80722	D	1	D;P	0.53462	0.96;0.951	P;P	0.56865	0.808;0.616	D	0.85560	0.1227	10	0.59425	D	0.04	-26.2831	17.6115	0.88055	0.0:1.0:0.0:0.0	.	192;192	F2Z2U5;C9JGV0	.;.	R	192	ENSP00000416289:G192R;ENSP00000330265:G192R	ENSP00000330265:G192R	G	-	1	0	WDR27	169810089	0.973000	0.33851	0.416000	0.26546	0.445000	0.32107	3.637000	0.54324	2.457000	0.83068	0.655000	0.94253	GGC	WDR27	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000184465		0.592	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1		0	63	0	C	NM_182552		170068164	-1			no_errors	ENST00000448612	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.979	G	G	170068164	C	G	170068164	3	3	133	1	0	0	0	0	1	0	0	0	17333	623	22	5	2083	5	WDR27	6	170068164	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	6584891	170068164	1046903	188	34110											
PRKAR1B	5575	genome.wustl.edu	37	chr7	716865	716865	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaggggacgagtctgcctaCctcctctcgttgtcatccag	6	10	11	14	2	3	0	1	0	2	0	6	2	5	1	4	2	2	2	4	2	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:716865C>A	ENST00000406797.1	-	4	615		c.e4+1		PRKAR1B_ENST00000403562.1_Splice_Site|PRKAR1B_ENST00000544935.1_Splice_Site|PRKAR1B_ENST00000360274.4_Splice_Site|PRKAR1B_ENST00000537384.1_Splice_Site	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|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)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGTCTGCCTACCTCCTCTCGT	0.642																																																	0													267	186	213					7																	716865		2203	4300	6503	SO:0001630	splice_region_variant	0			M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.440+1G>T	7.37:g.716865C>A			Q8N422	Splice_Site	SNP	-	e3+1	ENST00000406797.1	37	c.440+1	CCDS34579.1	7	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518610	0.44763	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5007	0.87731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKAR1B	683391	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	7.177000	0.77650	2.181000	0.69327	0.655000	0.94253	.	PRKAR1B	-	-	ENSG00000188191		0.642	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKAR1B	HGNC	protein_coding	OTTHUMT00000322525.1	-	0	45	0	C		Intron	716865	-1	tier1	-	no_errors	ENST00000360274	ensembl	human	known	74_37	splice_site	11.59	60	8	SNP	1.000	A	A	716865	C	A	716865	5	1	133	1	0	0	0	0	0	0	1	0	12546	521	18	3	736	3	PRKAR1B	7	716865	Splice_Site	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		716865	158421798	189	34111											
TTYH3	80727	genome.wustl.edu	37	chr7	2687177	2687177	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagggcctgctggagacGctgctgggctacacggccgc	5	6	16	14	3	0	1	0	0	0	1	0	2	0	1	2	4	4	5	2	4	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:2687177G>C	ENST00000258796.7	+	4	736	c.531G>C	c.(529-531)acG>acC	p.T177T	TTYH3_ENST00000403167.1_5'Flank|TTYH3_ENST00000407643.1_Silent_p.T177T	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	177					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)		TGCTGGAGACGCTGCTGGGCT	0.701																																																	0													15	15	15					7																	2687177		2128	4209	6337	SO:0001819	synonymous_variant	0				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.531G>C	7.37:g.2687177G>C			A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	pfam_Tweety	p.T177	ENST00000258796.7	37	c.531	CCDS34588.1	7																																																																																			TTYH3	-	pfam_Tweety	ENSG00000136295		0.701	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTYH3	HGNC	protein_coding	OTTHUMT00000325082.2		0	60	0	G	XM_166523		2687177	1			no_errors	ENST00000258796	ensembl	human	known	74_37	silent	9.80	46	5	SNP	0.000	C	C	2687177	G	C	2687177	2	2	133	1	0	0	0	0	0	0	0	1	16790	1074	38	5		5	TTYH3	7	2687177	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1970312	2687177	156451486	190	34112											
PMS2	5395	genome.wustl.edu	37	chr7	6045569	6045569	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgttttctactaactccttTaccgcagtgcttagactcag	8	15	6	12	1	2	1	1	0	1	1	3	1	3	1	2	0	4	3	2	0	4	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:6045569T>C	ENST00000265849.7	-	2	222	c.117A>G	c.(115-117)gtA>gtG	p.V39V	PMS2_ENST00000382321.4_Silent_p.V39V|PMS2_ENST00000406569.3_Silent_p.V39V|PMS2_ENST00000441476.2_5'Flank|PMS2_ENST00000469652.1_Intron|Y_RNA_ENST00000365120.1_RNA	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	39					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTAACTCCTTTACCGCAGTGC	0.438			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													305	372	347					7																	6045569		1375	2331	3706	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.117A>G	7.37:g.6045569T>C			B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.V39	ENST00000265849.7	37	c.117	CCDS5343.1	7																																																																																			PMS2	-	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N	ENSG00000122512		0.438	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	-	0	424	0	T	NM_000535		6045569	-1	tier1	rs34839707	no_errors	ENST00000265849	ensembl	human	known	74_37	silent	7.46	459	37	SNP	0.993	C	C	6045569	T	C	6045569	2	2	133	1	0	0	0	0	0	0	0	1	12182	1741	61	4		4	PMS2	7	6045569	Silent	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	3358392	6045569	153093094	191	34113											
KDELR2	11014	genome.wustl.edu	37	chr7	6505755	6505755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataggatggtctggactacgCcggccaccacagcaatgagg	11	6	13	11	2	1	1	0	1	1	0	1	3	1	3	3	5	2	1	3	5	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:6505755C>G	ENST00000258739.4	-	4	735	c.551G>C	c.(550-552)gGc>gCc	p.G184A	KDELR2_ENST00000490996.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	184					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CTGGACTACGCCGGCCACCAC	0.473																																																	0													95	95	95					7																	6505755		2203	4300	6503	SO:0001583	missense	0			X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.551G>C	7.37:g.6505755C>G	ENSP00000258739:p.Gly184Ala		A4D2P4|Q6IPC5|Q96E30	Missense_Mutation	SNP	pfam_ER_ret_rcpt,prints_ER_ret_rcpt	p.G184A	ENST00000258739.4	37	c.551	CCDS5351.1	7	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009389	0.93346	.	.	ENSG00000136240	ENST00000258739	T	0.79940	-1.32	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.92776	0.7703	H	0.95079	3.62	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	D	0.94506	0.7714	10	0.72032	D	0.01	-4.4161	19.3519	0.94392	0.0:1.0:0.0:0.0	.	184	P33947	ERD22_HUMAN	A	184	ENSP00000258739:G184A	ENSP00000258739:G184A	G	-	2	0	KDELR2	6472280	1.000000	0.71417	0.923000	0.36655	0.997000	0.91878	7.686000	0.84128	2.578000	0.87016	0.460000	0.39030	GGC	KDELR2	-	prints_ER_ret_rcpt	ENSG00000136240		0.473	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR2	HGNC	protein_coding	OTTHUMT00000059424.2		0	86	0	C			6505755	-1			no_errors	ENST00000258739	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	G	G	6505755	C	G	6505755	3	3	133	1	0	0	0	0	1	0	0	0	8147	739	26	5	270	5	KDELR2	7	6505755	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	460186	6505755	152632908	192	34114											
POLM	27434	genome.wustl.edu	37	chr7	44113285	44113285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctccttccggctgaagCggcgcagctcccgctggaaa	6	8	11	16	4	1	1	0	1	1	0	4	2	3	2	4	3	2	4	4	3	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:44113285C>T	ENST00000242248.5	-	10	1438	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	POLM_ENST00000395831.3_Missense_Mutation_p.R366H|POLM_ENST00000335195.6_Missense_Mutation_p.R409H|POLM_ENST00000492971.1_5'Flank	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	446					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						CCGGCTGAAGCGGCGCAGCTC	0.642								DNA polymerases (catalytic subunits)																																									0													52	56	54					7																	44113285		2203	4300	6503	SO:0001583	missense	0			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.1337G>A	7.37:g.44113285C>T	ENSP00000242248:p.Arg446His		D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.R446H	ENST00000242248.5	37	c.1337	CCDS34625.1	7	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709472	0.89018	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831	T;T;T	0.46451	0.87;0.87;0.87	5.45	3.51	0.40186	DNA-directed DNA polymerase X (1);	0.189178	0.39475	N	0.001351	T	0.61874	0.2382	M	0.78344	2.41	0.21967	N	0.999445	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70716	0.97;0.945;0.941	T	0.55114	-0.8191	10	0.87932	D	0	-12.0498	11.4757	0.50297	0.3215:0.6785:0.0:0.0	.	366;409;446	Q86WQ9;Q6P5X8;Q9NP87	.;.;DPOLM_HUMAN	H	409;446;366	ENSP00000335141:R409H;ENSP00000242248:R446H;ENSP00000379174:R366H	ENSP00000242248:R446H	R	-	2	0	POLM	44079810	0.996000	0.38824	0.991000	0.47740	0.992000	0.81027	6.218000	0.72224	1.414000	0.47017	0.650000	0.86243	CGC	POLM	-	smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,prints_TdT/Mu	ENSG00000122678		0.642	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLM	HGNC	protein_coding	OTTHUMT00000339594.1		0	38	0	C	NM_013284		44113285	-1			no_errors	ENST00000242248	ensembl	human	known	74_37	missense	5.56	67	4	SNP	0.898	T	T	44113285	C	T	44113285	3	4	133	1	0	0	0	0	1	0	0	0	12245	768	27	1	155	1	POLM	7	44113285	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	37607530	44113285	115025378	193	34115											
H2AFV	94239	genome.wustl.edu	37	chr7	44882898	44882898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagcccagctctctgtgagCgagatactgccttagccttg	7	11	11	12	1	1	2	0	1	1	1	2	3	1	2	3	0	6	2	3	0	3	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:44882898C>A	ENST00000308153.4	-	2	150	c.59G>T	c.(58-60)cGc>cTc	p.R20L	H2AFV_ENST00000349299.3_Missense_Mutation_p.R20L|H2AFV_ENST00000437072.1_Missense_Mutation_p.R20L|H2AFV_ENST00000350771.3_Intron|H2AFV_ENST00000222690.6_Missense_Mutation_p.R20L|H2AFV_ENST00000381124.5_Missense_Mutation_p.R20L|H2AFV_ENST00000521529.1_Intron|H2AFV_ENST00000446531.1_Missense_Mutation_p.R20L	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	20						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						TCTCTGTGAGCGAGATACTGC	0.363																																																	0													101	96	97					7																	44882898		2203	4300	6503	SO:0001583	missense	0			AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"Histones / Replication-independent"	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.59G>T	7.37:g.44882898C>A	ENSP00000308405:p.Arg20Leu		A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R20L	ENST00000308153.4	37	c.59	CCDS5496.1	7	.	.	.	.	.	.	.	.	.	.	c	33	5.222310	0.95139	.	.	ENSG00000105968	ENST00000222690;ENST00000437072;ENST00000349299;ENST00000308153;ENST00000381124;ENST00000446531	T;D;D;T;T;T	0.86865	-0.53;-2.18;-2.18;-0.53;-0.53;-0.53	5.42	5.42	0.78866	Histone-fold (2);Histone core (1);Histone H2A (2);	.	.	.	.	D	0.93585	0.7952	H	0.95004	3.61	0.80722	D	1	P;B;P	0.51791	0.686;0.399;0.948	B;B;P	0.51833	0.25;0.049;0.681	D	0.95191	0.8308	9	0.87932	D	0	-14.9909	16.7291	0.85431	0.0:1.0:0.0:0.0	.	20;20;20	A6NFA8;Q71UI9;A6NN01	.;H2AV_HUMAN;.	L	20	ENSP00000222690:R20L;ENSP00000397115:R20L;ENSP00000342714:R20L;ENSP00000308405:R20L;ENSP00000370516:R20L;ENSP00000406901:R20L	ENSP00000222690:R20L	R	-	2	0	H2AFV	44849423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.257000	0.78362	2.551000	0.86045	0.450000	0.29827	CGC	H2AFV	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000105968		0.363	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	H2AFV	HGNC	protein_coding	OTTHUMT00000251305.1	-	0	73	0	C	NM_012412		44882898	-1	tier1	-	no_errors	ENST00000308153	ensembl	human	known	74_37	missense	9.09	80	8	SNP	1.000	A	A	44882898	C	A	44882898	3	1	133	1	0	0	0	0	1	0	0	0	6954	768	27	2	367	2	H2AFV	7	44882898	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	769613	44882898	114255765	194	34116											
ZNF138	7697	genome.wustl.edu	37	chr7	64291962	64291962	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaggctgtaaaagtgtGgatgagtgtaagggacacca	16	7	14	4	0	0	2	0	1	0	1	0	4	0	4	1	3	0	3	1	3	5	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:64291962G>C	ENST00000359735.3	+	4	518	c.171G>C	c.(169-171)gtG>gtC	p.V57V	ZNF138_ENST00000494380.1_3'UTR|ZNF138_ENST00000440155.2_Silent_p.V88V|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000437743.1_Silent_p.V82V|ZNF138_ENST00000397136.2_Silent_p.V57V|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000307355.7_Silent_p.V114V	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	P52744	ZN138_HUMAN	zinc finger protein 138	57					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(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				GTAAAAGTGTGGATGAGTGTA	0.318																																																	0													76	76	76					7																	64291962		2203	4300	6503	SO:0001819	synonymous_variant	0			U09847	CCDS34645.1, CCDS34645.2, CCDS55115.1, CCDS64659.1, CCDS64660.1, CCDS64661.1, CCDS75607.1	7q11.21	2013-01-08	2005-07-11		ENSG00000197008	ENSG00000197008		"Zinc fingers, C2H2-type", "-"	12922	protein-coding gene	gene with protein product		604080	"zinc finger protein 138 (clone pHZ-32)"				Standard	NM_006524		Approved	pHZ-32	uc031sxl.1	P52744	OTTHUMG00000156603	ENST00000359735.3:c.171G>C	7.37:g.64291962G>C			B4DFX2|B4DP87|E9PHI7|E9PHK7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V57	ENST00000359735.3	37	c.171		7																																																																																			ZNF138	-	NULL	ENSG00000197008		0.318	ZNF138-201	KNOWN	basic	protein_coding	ZNF138	HGNC	protein_coding		-	0	68	0	G	NM_006524		64291962	1	tier1	-	no_errors	ENST00000359735	ensembl	human	known	74_37	silent	8.11	102	9	SNP	0.075	C	C	64291962	G	C	64291962	2	2	133	1	0	0	0	0	0	0	0	1	17775	1335	47	5		5	ZNF138	7	64291962	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	19409064	64291962	94846701	195	34117											
ZNF117	51351	genome.wustl.edu	37	chr7	64438934	64438934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttggttaaaagctttgcCacattcctcacatttgtagg	10	14	9	8	0	1	0	1	0	0	0	2	1	2	0	2	2	2	4	2	2	3	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:64438934C>A	ENST00000282869.6	-	4	2299	c.1015G>T	c.(1015-1017)Ggc>Tgc	p.G339C		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	339					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AAAGCTTTGCCACATTCCTCA	0.358																																																	0													48	51	50					7																	64438934		2149	4266	6415	SO:0001583	missense	0			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1015G>T	7.37:g.64438934C>A	ENSP00000282869:p.Gly339Cys		Q02313|Q7Z7Q7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G339C	ENST00000282869.6	37	c.1015	CCDS43593.1	7	.	.	.	.	.	.	.	.	.	.	.	14.40	2.525364	0.44969	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.07800	3.16	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21921	0.0528	H	0.96175	3.78	0.39247	D	0.963966	P	0.45594	0.862	P	0.44772	0.46	T	0.21484	-1.0244	9	0.66056	D	0.02	.	7.6354	0.28264	0.0:1.0:0.0:0.0	.	339	Q03924	ZN117_HUMAN	C	339	ENSP00000282869:G339C	ENSP00000282869:G339C	G	-	1	0	ZNF117	64076369	0.636000	0.27207	0.036000	0.18154	0.014000	0.08584	1.076000	0.30729	0.518000	0.28383	0.313000	0.20887	GGC	ZNF117	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152926		0.358	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF117	HGNC	protein_coding	OTTHUMT00000344863.3	-	0	42	0	C	NM_024498		64438934	-1	tier1	-	no_errors	ENST00000282869	ensembl	human	known	74_37	missense	9.59	66	7	SNP	1.000	A	A	64438934	C	A	64438934	3	1	133	1	0	0	0	0	1	0	0	0	17765	594	21	3	440	3	ZNF117	7	64438934	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	146972	64438934	94699729	196	34118											
ELN	2006	genome.wustl.edu	37	chr7	73474214	73474214	+	Splice_Site	SNP	A	A	T	1	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	tcagctcttctcaatcttgcAgggttagttcctggtgtcgg	5	15	11	10	1	4	0	2	0	3	0	7	0	5	0	1	3	2	4	1	3	2	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:73474214A>T	ENST00000252034.7	+	23	1813		c.e23-1		ELN_ENST00000357036.5_Splice_Site|ELN_ENST00000320492.7_Splice_Site|ELN_ENST00000380576.5_Splice_Site|ELN_ENST00000458204.1_Splice_Site|ELN_ENST00000380553.4_Splice_Site|ELN_ENST00000380584.4_Splice_Site|ELN_ENST00000380575.4_Splice_Site|ELN_ENST00000380562.4_Silent_p.A477A|ELN_ENST00000429192.1_Splice_Site|ELN_ENST00000320399.6_Splice_Site|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Splice_Site|ELN_ENST00000445912.1_Splice_Site|ELN_ENST00000358929.4_Silent_p.A506A	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin						blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TCAATCTTGCAGGGTTAGTTC	0.567			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													233	227	229					7																	73474214		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1415-1A>T	7.37:g.73474214A>T			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Splice_Site	SNP	-	e23-2	ENST00000252034.7	37	c.1415-2	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	.	10.85	1.466647	0.26335	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000320492;ENST00000414324;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0233	0.36213	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ELN	73112150	0.831000	0.29352	0.159000	0.22649	0.014000	0.08584	1.321000	0.33678	1.691000	0.51100	0.529000	0.55759	.	ELN	-	-	ENSG00000049540		0.567	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	-	0	105	0	A	NM_000501	Intron	73474214	1	tier1	-	no_errors	ENST00000320399	ensembl	human	known	74_37	splice_site	7.14	117	9	SNP	0.703	T	T	73474214	A	T	73474214	5	4	133	1	0	0	0	0	0	0	1	0	5087	202	7	5	1518	5	ELN	7	73474214	Splice_Site	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	9035280	73474214	85664449	197	34119											
CLIP2	7461	genome.wustl.edu	37	chr7	73731997	73731997	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccgctagctccaaggaaGgtacgtggcacaccaaggat	11	6	13	11	2	0	0	0	0	0	0	1	2	1	2	3	5	2	4	3	5	5	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:73731997G>T	ENST00000395060.1	+	1	121	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C	CLIP2_ENST00000361545.5_Splice_Site_p.G41C|CLIP2_ENST00000223398.6_Splice_Site_p.G41C			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	41						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						CTCCAAGGAAGGTACGTGGCA	0.642																																																	0													68	72	70					7																	73731997		2203	4299	6502	SO:0001630	splice_region_variant	0			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.121+1G>T	7.37:g.73731997G>T			O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.G41C	ENST00000395060.1	37	c.121	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326491	0.41197	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.60920	0.15;0.17;0.15	4.52	4.52	0.55395	.	0.072597	0.53938	D	0.000048	T	0.52821	0.1758	L	0.27053	0.805	0.58432	D	0.999997	P;P	0.48503	0.911;0.856	P;B	0.49752	0.621;0.417	T	0.57831	-0.7743	10	0.66056	D	0.02	-30.7081	12.629	0.56646	0.0:0.0:1.0:0.0	.	41;41	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	C	41	ENSP00000223398:G41C;ENSP00000355151:G41C;ENSP00000378500:G41C	ENSP00000223398:G41C	G	+	1	0	CLIP2	73369933	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	4.635000	0.61332	2.340000	0.79590	0.561000	0.74099	GGC	CLIP2	-	NULL	ENSG00000106665		0.642	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	-	0	152	0	G	NM_003388	Missense_Mutation	73731997	1	tier1	-	no_errors	ENST00000223398	ensembl	human	known	74_37	missense	7.88	151	13	SNP	1.000	T	T	73731997	G	T	73731997	5	4	133	1	0	0	0	0	0	0	1	0	3540	1014	35	3	123	3	CLIP2	7	73731997	Splice_Site	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	257783	73731997	85406666	198	34120											
GTF2IRD1	9569	genome.wustl.edu	37	chr7	73932624	73932624	+	Missense_Mutation	SNP	A	A	T	1	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	tcatggccatcctggaacacAgccaccgcatccgcttcaag	10	7	8	16	2	2	0	2	0	0	0	4	1	4	1	5	2	2	2	5	2	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:73932624A>T	ENST00000265755.3	+	5	970	c.577A>T	c.(577-579)Agc>Tgc	p.S193C	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.S225C|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.S193C|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.S193C|GTF2IRD1_ENST00000489094.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	193					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						CCTGGAACACAGCCACCGCAT	0.716																																																	0													32	32	32					7																	73932624		2202	4300	6502	SO:0001583	missense	0			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.577A>T	7.37:g.73932624A>T	ENSP00000265755:p.Ser193Cys		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.S193C	ENST00000265755.3	37	c.577	CCDS5571.1	7	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568686	0.86439	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	M	0.68952	2.095	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;0.989;0.974	T	0.70178	-0.4943	10	0.72032	D	0.01	-28.2129	14.1976	0.65682	1.0:0.0:0.0:0.0	.	225;193;193;193	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	C	193;225;193;193	ENSP00000265755:S193C;ENSP00000397566:S225C;ENSP00000408477:S193C;ENSP00000418383:S193C	ENSP00000265755:S193C	S	+	1	0	GTF2IRD1	73570560	1.000000	0.71417	0.992000	0.48379	0.630000	0.37929	8.683000	0.91236	2.003000	0.58678	0.528000	0.53228	AGC	GTF2IRD1	-	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	ENSG00000006704		0.716	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2		0	21	0	A	NM_016328		73932624	1			no_errors	ENST00000265755	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	73932624	A	T	73932624	3	4	133	1	0	0	0	0	1	0	0	0	6895	188	7	5	591	5	GTF2IRD1	7	73932624	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	200627	73932624	85206039	199	34121											
MAGI2	9863	genome.wustl.edu	37	chr7	77764503	77764503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactcccatcaatgatgcGtccgattttatggggcacag	10	10	11	10	2	1	1	1	1	0	0	3	3	3	2	2	3	1	1	2	3	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:77764503G>T	ENST00000354212.4	-	17	3119	c.2866C>A	c.(2866-2868)Cgc>Agc	p.R956S	MAGI2_ENST00000419488.1_Missense_Mutation_p.R942S|MAGI2_ENST00000522391.1_Missense_Mutation_p.R956S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	956	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)				TCAATGATGCGTCCGATTTTA	0.473																																																	0													120	110	113					7																	77764503		2203	4300	6503	SO:0001583	missense	0			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.2866C>A	7.37:g.77764503G>T	ENSP00000346151:p.Arg956Ser		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.R956S	ENST00000354212.4	37	c.2866	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.471176	0.96274	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.26067	1.76;1.76;1.76	6.06	6.06	0.98353	PDZ/DHR/GLGF (4);	0.000000	0.35466	U	0.003199	T	0.42653	0.1212	L	0.28054	0.825	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	T	0.23904	-1.0175	10	0.66056	D	0.02	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	956;942;956	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	S	942;956;956;956	ENSP00000405766:R942S;ENSP00000346151:R956S;ENSP00000428389:R956S	ENSP00000346151:R956S	R	-	1	0	MAGI2	77602439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.602000	0.67612	2.882000	0.98803	0.655000	0.94253	CGC	MAGI2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000187391		0.473	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	-	0	61	0	G	NM_012301		77764503	-1	tier1	-	no_errors	ENST00000354212	ensembl	human	known	74_37	missense	15.19	67	12	SNP	1.000	T	T	77764503	G	T	77764503	3	4	133	1	0	0	0	0	1	0	0	0	9229	1145	40	2	1525	2	MAGI2	7	77764503	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3831879	77764503	81374160	200	34122											
C7orf63	79846	genome.wustl.edu	37	chr7	89900935	89900935	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatgaccttgcttgaaaatCaacttgttgagaaactttgg	13	13	8	7	0	1	3	1	3	0	1	1	4	1	3	1	1	3	2	1	1	5	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:89900935C>T	ENST00000389297.4	+	7	879	c.628C>T	c.(628-630)Caa>Taa	p.Q210*	AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.Q210*|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Nonsense_Mutation_p.Q192*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		210										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GCTTGAAAATCAACTTGTTGA	0.363																																																	0													108	102	104					7																	89900935		1848	4093	5941	SO:0001587	stop_gained	0																														ENST00000389297.4:c.628C>T	7.37:g.89900935C>T	ENSP00000373948:p.Gln210*		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q210*	ENST00000389297.4	37	c.628	CCDS43613.2	7	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502348	0.85176	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	.	.	.	6.17	5.26	0.73747	.	0.063724	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-5.0125	19.2563	0.93947	0.0:0.8778:0.1222:0.0	.	.	.	.	X	210;210;192;150	.	ENSP00000321753:Q210X	Q	+	1	0	C7orf63	89738871	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	2.795000	0.47861	2.941000	0.99782	0.655000	0.94253	CAA	C7orf63	-	superfamily_ARM-type_fold	ENSG00000105792		0.363	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	-	0	58	0	C			89900935	1	tier1	-	no_errors	ENST00000389297	ensembl	human	known	74_37	nonsense	5.75	82	5	SNP	1.000	T	T	89900935	C	T	89900935	4	4	133	1	0	0	0	0	0	1	0	0	2416	827	29	3	654	3	C7orf63	7	89900935	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	12136432	89900935	69237728	201	34123											
SAMD9	54809	genome.wustl.edu	37	chr7	92733886	92733886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgccaggaacttggatCaaagggtttatatttttcac	10	16	8	7	0	3	0	2	0	1	0	3	2	3	2	1	3	2	1	1	3	4	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:92733886C>A	ENST00000379958.2	-	3	1794	c.1525G>T	c.(1525-1527)Gat>Tat	p.D509Y		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	509						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)			GAACTTGGATCAAAGGGTTTA	0.393																																																	0													90	93	92					7																	92733886		2203	4300	6503	SO:0001583	missense	0			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.1525G>T	7.37:g.92733886C>A	ENSP00000369292:p.Asp509Tyr		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.D509Y	ENST00000379958.2	37	c.1525	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740664	0.49045	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.13901	2.55;2.55	4.35	4.35	0.52113	.	0.081321	0.45867	D	0.000335	T	0.26412	0.0645	L	0.48642	1.525	0.38446	D	0.946844	D	0.89917	1.0	D	0.68765	0.96	T	0.01972	-1.1237	10	0.87932	D	0	.	9.7047	0.40209	0.0:0.9024:0.0:0.0976	.	509	Q5K651	SAMD9_HUMAN	Y	509	ENSP00000369292:D509Y;ENSP00000414529:D509Y	ENSP00000369292:D509Y	D	-	1	0	SAMD9	92571822	0.002000	0.14202	0.997000	0.53966	0.864000	0.49448	0.343000	0.19944	2.417000	0.82017	0.603000	0.83216	GAT	SAMD9	-	NULL	ENSG00000205413		0.393	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	-	0	56	0	C	NM_017654		92733886	-1	tier1	-	no_errors	ENST00000379958	ensembl	human	known	74_37	missense	8.24	78	7	SNP	0.998	A	A	92733886	C	A	92733886	3	1	133	1	0	0	0	0	1	0	0	0	13871	826	29	3	3248	3	SAMD9	7	92733886	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2832951	92733886	66404777	202	34124											
NPTX2	4885	genome.wustl.edu	37	chr7	98256637	98256637	+	Missense_Mutation	SNP	T	T	C	0	1	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	catcaagcccgggggcgtgcTgatccttggacaagagcagg	9	6	15	11	2	1	2	1	1	0	1	2	3	2	3	2	4	3	2	2	4	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:98256637T>C	ENST00000265634.3	+	4	1214	c.1049T>C	c.(1048-1050)cTg>cCg	p.L350P		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	350	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)			GGGGGCGTGCTGATCCTTGGA	0.667																																																	0													50	41	44					7																	98256637		2203	4300	6503	SO:0001583	missense	0				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.1049T>C	7.37:g.98256637T>C	ENSP00000265634:p.Leu350Pro		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.L350P	ENST00000265634.3	37	c.1049	CCDS5657.1	7	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321464	0.81580	.	.	ENSG00000106236	ENST00000265634	T	0.08008	3.14	5.39	5.39	0.77823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.060082	0.64402	D	0.000004	T	0.39655	0.1086	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.55335	-0.8157	10	0.87932	D	0	-30.6792	14.8789	0.70516	0.0:0.0:0.0:1.0	.	350	P47972	NPTX2_HUMAN	P	350	ENSP00000265634:L350P	ENSP00000265634:L350P	L	+	2	0	NPTX2	98094573	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.984000	0.88150	2.166000	0.68216	0.533000	0.62120	CTG	NPTX2	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	ENSG00000106236		0.667	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX2	HGNC	protein_coding	OTTHUMT00000334982.1	-	0	44	0	T	NM_002523		98256637	1	tier1	-	no_errors	ENST00000265634	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	C	C	98256637	T	C	98256637	3	2	133	1	0	0	0	0	1	0	0	0	10642	1580	55	4	1063	4	NPTX2	7	98256637	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	5522751	98256637	60882026	203	34125											
TRRAP	8295	genome.wustl.edu	37	chr7	98608682	98608682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtgtttcaggtcctccGcgacatcctcaaggaggttc	6	11	11	13	3	2	0	2	0	0	0	6	2	5	1	3	3	0	3	3	3	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:98608682G>A	ENST00000359863.4	+	70	11113	c.10904G>A	c.(10903-10905)cGc>cAc	p.R3635H	TRRAP_ENST00000355540.3_Missense_Mutation_p.R3606H|AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Missense_Mutation_p.R3624H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3635	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)			CAGGTCCTCCGCGACATCCTC	0.502																																																	0													53	49	51					7																	98608682		2203	4300	6503	SO:0001583	missense	0			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.10904G>A	7.37:g.98608682G>A	ENSP00000352925:p.Arg3635His		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R3635H	ENST00000359863.4	37	c.10904	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.085549|5.085549	0.94100|0.94100	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.03441	.|3.93;3.93	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.21227|0.21227	0.0511|0.0511	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.74023	.|0.982;0.98;0.973	T|T	0.00444|0.00444	-1.1735|-1.1735	5|10	.|0.38643	.|T	.|0.18	.|.	19.4728|19.4728	0.94969|0.94969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3606;3363;3635	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	T|H	3364|3635;3606;3623	.|ENSP00000352925:R3635H;ENSP00000347733:R3606H	.|ENSP00000347733:R3606H	A|R	+|+	1|2	0|0	TRRAP|TRRAP	98446618|98446618	1.000000|1.000000	0.71417|0.71417	0.290000|0.290000	0.24890|0.24890	0.838000|0.838000	0.47535|0.47535	9.869000|9.869000	0.99810|0.99810	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	GCG|CGC	TRRAP	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000196367		0.502	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	25	0	G	NM_003496		98608682	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.995	A	A	98608682	G	A	98608682	3	1	133	1	0	0	0	0	1	0	0	0	16649	1087	38	1	11087	1	TRRAP	7	98608682	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	352045	98608682	60529981	204	34126											
ZAN	7455	genome.wustl.edu	37	chr7	100358086	100358086	+	RNA	SNP	G	G	T	0	0	1	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	tgggtgcaagcgggcggtttGtggagctgcagacggagttc	6	9	19	7	3	0	1	0	0	0	1	1	3	0	3	0	5	4	5	0	5	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:100358086G>T	ENST00000348028.3	+	0	3934				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_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)			CGGGCGGTTTGTGGAGCTGCA	0.587																																																	0													108	119	115					7																	100358086		2123	4217	6340			0			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.100358086G>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.V1257L	ENST00000348028.3	37	c.3769		7	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345895	0.61073	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.58797	0.31;0.31;0.31	4.72	3.84	0.44239	von Willebrand factor, type D domain (3);	0.000000	0.41294	D	0.000909	T	0.63010	0.2475	L	0.41573	1.285	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66716	0.911;0.946	T	0.62186	-0.6907	10	0.46703	T	0.11	.	9.3699	0.38248	0.1028:0.0:0.8972:0.0	.	1257;1257	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	1257	ENSP00000445943:V1257L;ENSP00000445091:V1257L;ENSP00000444427:V1257L	ENSP00000423579:V1257L	V	+	1	0	ZAN	100196022	1.000000	0.71417	0.965000	0.40720	0.431000	0.31685	2.784000	0.47774	1.302000	0.44855	0.555000	0.69702	GTG	ZAN	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000146839		0.587	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0	143	0	G	NM_003386		100358086	1	tier1	-	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	5.49	171	10	SNP	1.000	T	T	100358086	G	T	100358086	1	4	133	0	1	0	0	0	0	0	0	0	17562	1377	48	3		3	ZAN	7	100358086	RNA	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1749404	100358086	58780577	205	34127											
ZAN	7455	genome.wustl.edu	37	chr7	100358114	100358114	+	RNA	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagacggagttcggtttgcGggtgagatgggatggtgacc	7	9	19	6	3	0	3	0	2	0	2	1	6	0	5	1	5	1	3	1	5	0	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:100358114G>C	ENST00000348028.3	+	0	3962				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_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)			TTCGGTTTGCGGGTGAGATGG	0.587																																																	0													94	105	102					7																	100358114		2170	4259	6429			0			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.100358114G>C			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.R1266P	ENST00000348028.3	37	c.3797		7	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910050	0.52439	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.60299	0.2;0.2;0.2	4.72	1.78	0.24846	von Willebrand factor, type D domain (3);	0.750907	0.11485	N	0.559330	T	0.73938	0.3651	M	0.88775	2.98	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.68943	0.935;0.961	T	0.68663	-0.5349	10	0.62326	D	0.03	.	3.7279	0.08481	0.0939:0.1641:0.5728:0.1693	.	1266;1266	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	1266	ENSP00000445943:R1266P;ENSP00000445091:R1266P;ENSP00000444427:R1266P	ENSP00000423579:R1266P	R	+	2	0	ZAN	100196050	0.835000	0.29415	0.052000	0.19188	0.714000	0.41099	0.864000	0.27926	0.244000	0.21351	0.555000	0.69702	CGG	ZAN	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000146839		0.587	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0	145	0	G	NM_003386		100358114	1	tier1	-	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	5.43	174	10	SNP	0.959	C	C	100358114	G	C	100358114	1	2	133	0	1	0	0	0	0	0	0	0	17562	1116	39	5		5	ZAN	7	100358114	RNA	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	28	100358114	58780549	206	34128											
RELN	5649	genome.wustl.edu	37	chr7	103292142	103292142	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggagtagacagtgctgtGggggaggtggggtccagcac	9	6	20	6	0	0	2	0	0	0	2	1	4	1	4	1	6	2	3	1	6	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:103292142G>T	ENST00000428762.1	-	15	2017	c.1858C>A	c.(1858-1860)Cac>Aac	p.H620N	RELN_ENST00000424685.2_Missense_Mutation_p.H620N|RELN_ENST00000343529.5_Missense_Mutation_p.H620N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	620					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)		ACAGTGCTGTGGGGGAGGTGG	0.453																																					NSCLC(146;835 1944 15585 22231 52158)												0													75	65	68					7																	103292142		2203	4300	6503	SO:0001583	missense	0				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.1858C>A	7.37:g.103292142G>T	ENSP00000392423:p.His620Asn		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.H620N	ENST00000428762.1	37	c.1858	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481103	0.84747	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22539	1.95;1.95;1.95	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	L	0.40543	1.245	0.58432	D	0.999999	D;P	0.69078	0.997;0.936	D;P	0.77557	0.99;0.885	T	0.03060	-1.1077	10	0.40728	T	0.16	.	19.6676	0.95898	0.0:0.0:1.0:0.0	.	620;620	P78509-2;P78509	.;RELN_HUMAN	N	620	ENSP00000392423:H620N;ENSP00000345694:H620N;ENSP00000388446:H620N	ENSP00000345694:H620N	H	-	1	0	RELN	103079378	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	9.476000	0.97823	2.656000	0.90262	0.563000	0.77884	CAC	RELN	-	superfamily_Sialidases	ENSG00000189056		0.453	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	62	0	G	NM_005045		103292142	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	12.64	76	11	SNP	1.000	T	T	103292142	G	T	103292142	3	4	133	1	0	0	0	0	1	0	0	0	13265	1348	47	3	8728	3	RELN	7	103292142	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2934028	103292142	55846521	207	34129											
LAMB4	22798	genome.wustl.edu	37	chr7	107688467	107688467	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagccgtgacagccgggaccCctacacttcctgtgcccctt	6	8	10	17	2	0	1	0	1	0	0	1	3	1	2	7	1	4	0	7	1	1	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:107688467C>G	ENST00000388781.3	-	28	4295	c.4212G>C	c.(4210-4212)agG>agC	p.R1404S	LAMB4_ENST00000205386.4_Missense_Mutation_p.R1404S|LAMB4_ENST00000388780.3_Missense_Mutation_p.R1404S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1404	Domain alpha.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGCCGGGACCCCTACACTTCC	0.567																																																	0													69	74	73					7																	107688467		2203	4300	6503	SO:0001583	missense	0			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.4212G>C	7.37:g.107688467C>G	ENSP00000373433:p.Arg1404Ser		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R1404S	ENST00000388781.3	37	c.4212	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387253	0.25031	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.30981	1.51;1.51;1.91;1.53	3.01	-6.03	0.02185	.	0.665977	0.12943	N	0.426438	T	0.10937	0.0267	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05099	-1.0906	10	0.62326	D	0.03	.	3.373	0.07228	0.5149:0.2828:0.0922:0.1101	.	1404;1404	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	S	1404;1404;430;1404	ENSP00000205386:R1404S;ENSP00000373433:R1404S;ENSP00000416562:R430S;ENSP00000373432:R1404S	ENSP00000205386:R1404S	R	-	3	2	LAMB4	107475703	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.660000	0.05317	-1.193000	0.02688	-0.518000	0.04402	AGG	LAMB4	-	NULL	ENSG00000091128		0.567	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	-	0	107	0	C	XM_209857		107688467	-1	tier1	-	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	6.35	118	8	SNP	0.892	G	G	107688467	C	G	107688467	3	3	133	1	0	0	0	0	1	0	0	0	8641	622	22	5	1101	5	LAMB4	7	107688467	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	4396325	107688467	51450196	208	34130											
CFTR	1080	genome.wustl.edu	37	chr7	117235030	117235030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccagcagtgactacatGgaacacataccttcgatata	15	9	6	11	1	0	1	0	1	0	0	1	3	0	2	2	1	5	1	2	1	6	6	rs397508393		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:117235030G>T	ENST00000003084.6	+	15	2669	c.2537G>T	c.(2536-2538)tGg>tTg	p.W846L	CFTR_ENST00000454343.1_Missense_Mutation_p.W785L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	846					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)	GTGACTACATGGAACACATAC	0.358									Cystic Fibrosis																																								0			GRCh37	CM930121	CFTR	M							172	159	163					7																	117235030		2203	4300	6503	SO:0001583	missense	0	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.2537G>T	7.37:g.117235030G>T	ENSP00000003084:p.Trp846Leu		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.W846L	ENST00000003084.6	37	c.2537	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749630	0.89753	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.98105	-4.72;-4.72;-4.72	5.34	5.34	0.76211	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98372	1.0554	10	0.21014	T	0.42	-9.081	19.3921	0.94587	0.0:0.0:1.0:0.0	.	846	P13569	CFTR_HUMAN	L	846;785;816	ENSP00000003084:W846L;ENSP00000403677:W785L;ENSP00000389119:W816L	ENSP00000003084:W846L	W	+	2	0	CFTR	117022266	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.129000	0.77225	2.652000	0.90054	0.591000	0.81541	TGG	CFTR	-	superfamily_ABC1_TM_dom,tigrfam_cAMP_cl_channel	ENSG00000001626		0.358	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	-	0	60	0	G	NM_000492		117235030	1	tier1	-	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	11.39	70	9	SNP	1.000	T	T	117235030	G	T	117235030	3	4	133	1	0	0	0	0	1	0	0	0	3301	1357	47	3	2595	3	CFTR	7	117235030	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	9546563	117235030	41903633	209	34131											
C7orf58	79974	genome.wustl.edu	37	chr7	120907296	120907296	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactcaatatcctagtgatCatcaaaactttgggaattgg	13	14	7	7	0	3	1	3	1	0	0	4	2	4	2	1	2	2	0	1	2	7	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:120907296C>A	ENST00000310396.5	+	21	3128	c.2661C>A	c.(2659-2661)atC>atA	p.I887I		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	887						endoplasmic reticulum (GO:0005783)											TCCTAGTGATCATCAAAACTT	0.323																																																	0													69	66	67					7																	120907296		2198	4295	6493	SO:0001819	synonymous_variant	0				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.2661C>A	7.37:g.120907296C>A			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	NULL	p.I887	ENST00000310396.5	37	c.2661	CCDS34739.1	7																																																																																			CPED1	-	NULL	ENSG00000106034		0.323	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1		0	54	0	C	NM_024913		120907296	1			no_errors	ENST00000310396	ensembl	human	known	74_37	silent	5.88	48	3	SNP	1.000	A	A	120907296	C	A	120907296	2	1	133	1	0	0	0	0	0	0	0	1	2412	816	29	3		3	C7orf58	7	120907296	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3672266	120907296	38231367	210	34132											
PLXNA4	91584	genome.wustl.edu	37	chr7	132169579	132169579	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatttccagagtaattttagGaagaattcccaggtacattt	14	14	7	6	0	0	2	0	0	0	2	2	3	2	3	2	2	1	2	2	2	6	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:132169579G>T	ENST00000359827.3	-	3	2334				PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000378539.5_Missense_Mutation_p.S522Y			Q9HCM2	PLXA4_HUMAN	plexin A4						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						GTAATTTTAGGAAGAATTCCC	0.388																																																	0													70	70	70					7																	132169579		2203	4300	6503	SO:0001627	intron_variant	0			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.1371+4471C>A	7.37:g.132169579G>T			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	p.S522Y	ENST00000359827.3	37	c.1565	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	9.308	1.054830	0.19907	.	.	ENSG00000221866	ENST00000378539	T	0.02737	4.18	3.34	-6.68	0.01778	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.49133	-0.8971	9	0.87932	D	0	.	7.6428	0.28303	0.2264:0.0:0.6346:0.139	.	522	A4D1N6	.	Y	522	ENSP00000367800:S522Y	ENSP00000367800:S522Y	S	-	2	0	PLXNA4	131820119	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.232000	0.09055	-1.771000	0.01293	-0.367000	0.07326	TCC	PLXNA4	-	NULL	ENSG00000221866		0.388	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	83	0	G	NM_181775		132169579	-1	tier1	-	no_errors	ENST00000378539	ensembl	human	known	74_37	missense	8.08	91	8	SNP	0.000	T	T	132169579	G	T	132169579	1	4	133	0	1	0	0	0	0	0	0	0	12161	1174	41	3		3	PLXNA4	7	132169579	Intron	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	11262283	132169579	26969084	211	34133											
TRIM24	8805	genome.wustl.edu	37	chr7	138255646	138255646	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctactccttccagccccacGattactagtgcagcaggata	10	10	7	14	1	1	0	0	0	1	0	3	2	3	1	4	1	5	2	4	1	4	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:138255646G>C	ENST00000343526.4	+	11	1991	c.1776G>C	c.(1774-1776)acG>acC	p.T592T	TRIM24_ENST00000415680.2_Silent_p.T558T			O15164	TIF1A_HUMAN	tripartite motif containing 24	592					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CCAGCCCCACGATTACTAGTG	0.488																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												0													202	187	192					7																	138255646		2203	4300	6503	SO:0001819	synonymous_variant	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1776G>C	7.37:g.138255646G>C			A4D1R7|A4D1R8|O95854	Silent	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.T592	ENST00000343526.4	37	c.1776	CCDS5847.1	7																																																																																			TRIM24	-	NULL	ENSG00000122779		0.488	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	-	0	165	0	G	NM_015905		138255646	1	tier1	-	no_errors	ENST00000343526	ensembl	human	known	74_37	silent	8.30	209	19	SNP	0.999	C	C	138255646	G	C	138255646	2	2	133	1	0	0	0	0	0	0	0	1	16546	1045	37	5		5	TRIM24	7	138255646	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	6086067	138255646	20883017	212	34134											
MGAM	8972	genome.wustl.edu	37	chr7	141720844	141720844	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttgacaatgttcttctCacagcagaatatcagacatc	14	12	6	9	0	3	3	2	1	2	2	5	3	3	3	0	0	1	3	0	0	4	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:141720844C>A	ENST00000549489.2	+	5	614	c.519C>A	c.(517-519)ctC>ctA	p.L173L	MGAM_ENST00000475668.2_Silent_p.L173L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	173					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)	ATGTTCTTCTCACAGCAGAAT	0.338																																																	0													107	97	100					7																	141720844		1835	4085	5920	SO:0001819	synonymous_variant	0			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.519C>A	7.37:g.141720844C>A			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.L173	ENST00000549489.2	37	c.519	CCDS47727.1	7																																																																																			MGAM	-	superfamily_Gal_mutarotase_SF_dom	ENSG00000257335		0.338	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0	115	0	C			141720844	1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	silent	7.10	170	13	SNP	0.998	A	A	141720844	C	A	141720844	2	1	133	1	0	0	0	0	0	0	0	1	9579	813	29	3		3	MGAM	7	141720844	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3465198	141720844	17417819	213	34135											
KRBA1	84626	genome.wustl.edu	37	chr7	149425722	149425722	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcctcagcagcagacagggGaccgaggagagcagagccca	12	2	14	13	1	1	3	1	0	0	3	2	6	2	4	3	3	4	3	3	3	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:149425722G>C	ENST00000485033.2	+	11	1583	c.1583G>C	c.(1582-1584)gGa>gCa	p.G528A	KRBA1_ENST00000255992.10_Missense_Mutation_p.G528A|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.G528A			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	589										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)			GCAGACAGGGGACCGAGGAGA	0.622																																																	0													83	99	94					7																	149425722		2001	4171	6172	SO:0001583	missense	0			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.1583G>C	7.37:g.149425722G>C	ENSP00000420112:p.Gly528Ala		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	NULL	p.G528A	ENST00000485033.2	37	c.1583		7	.	.	.	.	.	.	.	.	.	.	G	5.029	0.190974	0.09547	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.33438	1.41;1.49;1.49	4.4	2.22	0.28083	.	0.194267	0.25744	N	0.028587	T	0.19446	0.0467	L	0.34521	1.04	0.09310	N	1	P;P	0.36144	0.539;0.539	B;B	0.32980	0.156;0.156	T	0.10800	-1.0614	10	0.46703	T	0.11	-8.5229	7.5457	0.27766	0.0:0.1663:0.6386:0.195	.	528;528	E7ENE9;A5PL33	.;KRBA1_HUMAN	A	528	ENSP00000255992:G528A;ENSP00000317165:G528A;ENSP00000420112:G528A	ENSP00000255992:G528A	G	+	2	0	KRBA1	149056655	0.004000	0.15560	0.013000	0.15412	0.053000	0.15095	-0.132000	0.10467	0.802000	0.34089	0.655000	0.94253	GGA	KRBA1	-	NULL	ENSG00000133619		0.622	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	HGNC	protein_coding	OTTHUMT00000349841.3	-	0	50	0	G	NM_032534		149425722	1	tier1	-	no_errors	ENST00000255992	ensembl	human	known	74_37	missense	7.81	59	5	SNP	0.001	C	C	149425722	G	C	149425722	3	2	133	1	0	0	0	0	1	0	0	0	8466	1174	41	5	1625	5	KRBA1	7	149425722	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	7704878	149425722	9712941	214	34136											
SSPO	23145	genome.wustl.edu	37	chr7	149500089	149500089	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accctgcagcgtctcctgcgGgggtggccatcagagtcgcc	5	7	14	15	3	2	1	1	0	1	1	4	1	2	1	4	3	3	1	4	3	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:149500089G>C	ENST00000378016.2	+	0	7715							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)			GTCTCCTGCGGGGGTGGCCAT	0.697																																																	0													10	14	13					7																	149500089		2159	4260	6419			0			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.149500089G>C			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.697	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	27	0	G			149500089	1	tier1	-	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	14.71	29	5	SNP	1.000	C	C	149500089	G	C	149500089	1	2	133	0	1	0	0	0	0	0	0	0	15236	1232	43	5		5	SSPO	7	149500089	RNA	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	74367	149500089	9638574	215	34137											
SSPO	23145	genome.wustl.edu	37	chr7	149500813	149500813	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agttgctgtgccaaccagggGgctgccccctgccctgcggc	4	7	14	16	1	0	0	0	0	0	0	0	0	0	0	5	3	6	3	5	3	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:149500813G>T	ENST00000378016.2	+	0	8131							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)			CCAACCAGGGGGCTGCCCCCT	0.692																																																	0													14	18	17					7																	149500813		2069	4191	6260			0			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.149500813G>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.692	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	106	0	G			149500813	1	tier1	-	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	6.30	119	8	SNP	0.295	T	T	149500813	G	T	149500813	1	4	133	0	1	0	0	0	0	0	0	0	15236	1232	43	3		3	SSPO	7	149500813	RNA	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	724	149500813	9637850	216	34138											
SSPO	23145	genome.wustl.edu	37	chr7	149511966	149511966	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccccccacccctgagggaGggaggccctgccctgggaac	6	3	15	17	0	0	1	0	1	0	0	0	4	0	4	7	5	2	0	7	5	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:149511966G>T	ENST00000378016.2	+	0	10516							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)			CCCTGAGGGAGGGAGGCCCTG	0.692																																																	0													7	10	9					7																	149511966		2066	4120	6186			0			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.149511966G>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.692	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	34	0	G			149511966	1	tier1	-	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	11.11	48	6	SNP	1.000	T	T	149511966	G	T	149511966	1	4	133	0	1	0	0	0	0	0	0	0	15236	1000	35	3		3	SSPO	7	149511966	RNA	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	11153	149511966	9626697	217	34139											
TMEM176B	28959	genome.wustl.edu	37	chr7	150490363	150490363	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaacagcagccatagctGtagcaaagcctgccagggtg	12	5	13	11	0	0	0	0	0	0	0	0	1	0	1	3	2	7	4	3	2	4	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:150490363G>C	ENST00000447204.2	-	5	785	c.413C>G	c.(412-414)aCa>aGa	p.T138R	TMEM176B_ENST00000450753.2_Missense_Mutation_p.T101R|TMEM176B_ENST00000434545.1_Missense_Mutation_p.T138R|TMEM176B_ENST00000429904.2_Missense_Mutation_p.T138R|TMEM176B_ENST00000326442.5_Missense_Mutation_p.T138R|TMEM176B_ENST00000492607.1_Missense_Mutation_p.T138R	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	138					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)		AGCCATAGCTGTAGCAAAGCC	0.507																																																	0													63	56	58					7																	150490363		2203	4300	6503	SO:0001583	missense	0			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.413C>G	7.37:g.150490363G>C	ENSP00000410269:p.Thr138Arg		B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.T138R	ENST00000447204.2	37	c.413	CCDS5908.1	7	.	.	.	.	.	.	.	.	.	.	G	9.995	1.231868	0.22626	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.02737	4.18;4.18;4.18;4.18;4.18;4.18	4.32	3.44	0.39384	.	0.698788	0.13569	N	0.378202	T	0.11965	0.0291	M	0.77103	2.36	0.09310	N	1	D;D	0.58970	0.984;0.984	P;P	0.62184	0.899;0.899	T	0.05971	-1.0853	10	0.87932	D	0	-5.2435	8.6107	0.33800	0.1092:0.0:0.8908:0.0	.	101;138	E9PAV4;Q3YBM2	.;T176B_HUMAN	R	138;138;138;138;138;101;138	ENSP00000419258:T138R;ENSP00000318409:T138R;ENSP00000410269:T138R;ENSP00000413531:T138R;ENSP00000397810:T138R;ENSP00000404831:T101R	ENSP00000318409:T138R	T	-	2	0	TMEM176B	150121296	0.007000	0.16637	0.008000	0.14137	0.019000	0.09904	1.382000	0.34374	0.954000	0.37851	0.448000	0.29417	ACA	TMEM176B	-	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	ENSG00000106565		0.507	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM176B	HGNC	protein_coding	OTTHUMT00000349204.1	-	0	37	0	G	NM_014020		150490363	-1	tier1	-	no_errors	ENST00000326442	ensembl	human	known	74_37	missense	9.09	39	4	SNP	0.025	C	C	150490363	G	C	150490363	3	2	133	1	0	0	0	0	1	0	0	0	16140	1377	48	5	411	5	TMEM176B	7	150490363	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	978397	150490363	8648300	218	34140											
MLL3	58508	genome.wustl.edu	37	chr7	151878492	151878492	+	Silent	SNP	T	T	A	0	1	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	gggtctgtattggacctagcTgttcctgaagattgggaata	9	13	13	6	0	1	2	0	1	1	1	2	4	2	4	2	3	1	3	2	3	5	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr7:151878492T>A	ENST00000262189.6	-	36	6671	c.6453A>T	c.(6451-6453)acA>acT	p.T2151T	KMT2C_ENST00000355193.2_Silent_p.T2151T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2151	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)										TGGACCTAGCTGTTCCTGAAG	0.512																																																	0													119	126	123					7																	151878492		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6453A>T	7.37:g.151878492T>A			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.T2151	ENST00000262189.6	37	c.6453	CCDS5931.1	7																																																																																			KMT2C	-	NULL	ENSG00000055609		0.512	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3		0	35	0	T			151878492	-1			no_errors	ENST00000355193	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.517	A	A	151878492	T	A	151878492	2	1	133	1	0	0	0	0	0	0	0	1	9660	1567	55	5		5	MLL3	7	151878492	Silent	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	1388129	151878492	7260171	219	34141											
ERICH1	157697	genome.wustl.edu	37	chr8	665954	665954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctggggttccctctttcCttggccacttggaacaggag	5	12	12	12	1	2	0	0	0	2	0	4	2	4	2	3	5	1	1	3	5	1	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr8:665954C>G	ENST00000262109.7	-	2	153	c.76G>C	c.(76-78)Gga>Cga	p.G26R	ERICH1_ENST00000518277.1_5'UTR|ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	26										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCCCTCTTTCCTTGGCCACTT	0.468																																																	0													135	136	135					8																	665954		2203	4300	6503	SO:0001583	missense	0				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.76G>C	8.37:g.665954C>G	ENSP00000262109:p.Gly26Arg		A8K2J9|Q9P063	Missense_Mutation	SNP	NULL	p.G26R	ENST00000262109.7	37	c.76	CCDS5955.1	8	.	.	.	.	.	.	.	.	.	.	C	9.171	1.021266	0.19433	.	.	ENSG00000104714	ENST00000543819;ENST00000262109	T	0.33865	1.39	4.07	3.2	0.36748	.	0.775342	0.11552	N	0.552719	T	0.17916	0.0430	N	0.03608	-0.345	0.22842	N	0.998665	B;B	0.34241	0.444;0.444	B;B	0.35278	0.199;0.199	T	0.11867	-1.0570	10	0.54805	T	0.06	-12.1964	7.8342	0.29360	0.0:0.8879:0.0:0.1121	.	26;26	B4DMI5;Q86X53	.;ERIC1_HUMAN	R	26	ENSP00000262109:G26R	ENSP00000262109:G26R	G	-	1	0	ERICH1	655954	0.304000	0.24472	0.608000	0.28969	0.011000	0.07611	1.274000	0.33132	1.307000	0.44944	-0.136000	0.14681	GGA	ERICH1	-	NULL	ENSG00000104714		0.468	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERICH1	HGNC	protein_coding	OTTHUMT00000251228.3	-	0	133	0	C	NM_207332		665954	-1	tier1	-	no_errors	ENST00000262109	ensembl	human	known	74_37	missense	11.63	114	15	SNP	0.700	G	G	665954	C	G	665954	3	3	133	1	0	0	0	0	1	0	0	0	5246	690	24	5	1275	5	ERICH1	8	665954	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		665954	145698068	220	34142											
WRN	7486	genome.wustl.edu	37	chr8	31004645	31004645	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacaagagcaggagactcagGtaaggcttttgtaaaaaggt	15	8	12	6	0	1	2	1	0	0	2	1	3	1	2	0	4	1	4	0	4	5	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr8:31004645G>T	ENST00000298139.5	+	29	3708		c.e29+1			NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like						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)		GGAGACTCAGGTAAGGCTTTT	0.313			"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													73	74	74					8																	31004645		2203	4300	6503	SO:0001630	splice_region_variant	0	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.3459+1G>T	8.37:g.31004645G>T			A1KYY9	Splice_Site	SNP	-	e28+1	ENST00000298139.5	37	c.3459+1	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763270	0.49574	.	.	ENSG00000165392	ENST00000298139	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1875	0.81962	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WRN	31124187	1.000000	0.71417	0.995000	0.50966	0.549000	0.35272	4.997000	0.63921	2.489000	0.83994	0.655000	0.94253	.	WRN	-	-	ENSG00000165392		0.313	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	-	0	61	0	G		Intron	31004645	1	tier1	-	no_errors	ENST00000298139	ensembl	human	known	74_37	splice_site	5.26	90	5	SNP	1.000	T	T	31004645	G	T	31004645	5	4	133	1	0	0	0	0	0	0	1	0	17451	1275	44	3	3570	3	WRN	8	31004645	Splice_Site	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	30338691	31004645	115359377	221	34143											
PXDNL	137902	genome.wustl.edu	37	chr8	52321611	52321611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcgcgcgaagagcatgcagGgcgcgtgggtgccccggggg	6	3	21	11	6	0	1	0	0	0	1	0	2	0	1	2	4	4	2	2	4	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr8:52321611G>T	ENST00000356297.4	-	17	2673	c.2573C>A	c.(2572-2574)cCc>cAc	p.P858H	PXDNL_ENST00000543296.1_Missense_Mutation_p.P858H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	858					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)				GAGCATGCAGGGCGCGTGGGT	0.672																																																	0													20	24	23					8																	52321611		2024	4143	6167	SO:0001583	missense	0				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.2573C>A	8.37:g.52321611G>T	ENSP00000348645:p.Pro858His		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.P858H	ENST00000356297.4	37	c.2573	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440731	0.25900	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.73152	-0.72;-0.72	3.56	0.336	0.15958	.	1.121650	0.06902	U	0.806144	T	0.53449	0.1797	L	0.27053	0.805	0.20196	N	0.999924	B	0.06786	0.001	B	0.15484	0.013	T	0.48091	-0.9065	10	0.62326	D	0.03	.	1.9316	0.03328	0.1267:0.3287:0.3665:0.178	.	858	A1KZ92	PXDNL_HUMAN	H	858	ENSP00000348645:P858H;ENSP00000444865:P858H	ENSP00000348645:P858H	P	-	2	0	PXDNL	52484164	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	1.099000	0.31013	0.606000	0.29965	-0.145000	0.13849	CCC	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.672	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0	27	0	G	NM_144651		52321611	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.607	T	T	52321611	G	T	52321611	3	4	133	1	0	0	0	0	1	0	0	0	12893	1232	43	3	1846	3	PXDNL	8	52321611	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	21316966	52321611	94042411	222	34144											
RUNX1T1	862	genome.wustl.edu	37	chr8	92972711	92972711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgttacagccactgcagGtttcactcgctttacggcca	7	12	9	13	2	1	0	1	0	0	0	2	0	1	0	2	2	4	4	2	2	2	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr8:92972711G>A	ENST00000523629.1	-	12	2028	c.1574C>T	c.(1573-1575)aCc>aTc	p.T525I	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T498I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T498I|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T525I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T488I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T488I|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T488I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T536I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	525					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCACTGCAGGTTTCACTCGC	0.488																																																	0													65	62	63					8																	92972711		2203	4300	6503	SO:0001583	missense	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1574C>T	8.37:g.92972711G>A	ENSP00000428543:p.Thr525Ile		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.T536I	ENST00000523629.1	37	c.1607	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273818	0.80580	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.36520	1.26;1.26;1.26;1.27;1.27;1.27;1.25;1.26	5.86	5.86	0.93980	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	L	0.45744	1.44	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.995	D;D;D;D	0.97110	0.994;0.994;1.0;0.97	T	0.56086	-0.8037	10	0.87932	D	0	-16.7163	20.1802	0.98196	0.0:0.0:1.0:0.0	.	536;488;525;498	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	I	525;498;525;488;488;488;536;498	ENSP00000428543:T525I;ENSP00000379520:T498I;ENSP00000265814:T525I;ENSP00000353504:T488I;ENSP00000390137:T488I;ENSP00000428742:T488I;ENSP00000402257:T536I;ENSP00000430728:T498I	ENSP00000265814:T525I	T	-	2	0	RUNX1T1	93041887	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	9.869000	0.99810	2.777000	0.95525	0.655000	0.94253	ACC	RUNX1T1	-	pfam_Znf_MYND,pfscan_Znf_MYND	ENSG00000079102		0.488	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	-	0	53	0	G	NM_004349, NM_175635		92972711	-1	tier1	-	no_errors	ENST00000436581	ensembl	human	known	74_37	missense	22.08	60	17	SNP	1.000	A	A	92972711	G	A	92972711	3	1	133	1	0	0	0	0	1	0	0	0	13792	1261	44	3	244	3	RUNX1T1	8	92972711	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	40651100	92972711	53391311	223	34145											
RAD54B	25788	genome.wustl.edu	37	chr8	95412652	95412652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatgtcttccctaaaccCatttcatcagcaagaatagc	13	11	5	12	0	3	1	2	0	1	1	4	1	4	1	2	0	4	2	2	0	6	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr8:95412652C>T	ENST00000336148.5	-	7	1108	c.984G>A	c.(982-984)atG>atA	p.M328I		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	328	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCCCTAAACCCATTTCATCAG	0.368								Direct reversal of damage;Homologous recombination																																									0													63	55	58					8																	95412652		2203	4300	6503	SO:0001583	missense	0			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.984G>A	8.37:g.95412652C>T	ENSP00000336606:p.Met328Ile		F6WBS8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M328I	ENST00000336148.5	37	c.984	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.091842	0.94149	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	D	0.94497	-3.44	5.5	5.5	0.81552	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98811	0.9599	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99338	1.0911	10	0.87932	D	0	-24.6649	19.4017	0.94632	0.0:1.0:0.0:0.0	.	328	Q9Y620	RA54B_HUMAN	I	328;1	ENSP00000336606:M328I	ENSP00000336606:M328I	M	-	3	0	RAD54B	95481828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.584000	0.87258	0.650000	0.86243	ATG	RAD54B	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000197275		0.368	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	-	0	76	0	C	NM_012415		95412652	-1	tier1	-	no_errors	ENST00000336148	ensembl	human	known	74_37	missense	9.41	77	8	SNP	1.000	T	T	95412652	C	T	95412652	3	4	133	1	0	0	0	0	1	0	0	0	13037	594	21	3	1784	3	RAD54B	8	95412652	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2439941	95412652	50951370	224	34146											
CSMD3	114788	genome.wustl.edu	37	chr8	114326869	114326869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcgtattcttcttctagaGcaaatgactgaaaaacaatt	15	13	6	7	1	3	3	0	2	3	1	4	3	3	3	0	0	2	2	0	0	6	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr8:114326869G>C	ENST00000297405.5	-	2	576	c.332C>G	c.(331-333)gCt>gGt	p.A111G	CSMD3_ENST00000455883.2_Missense_Mutation_p.A111G|CSMD3_ENST00000352409.3_Missense_Mutation_p.A111G|CSMD3_ENST00000343508.3_Missense_Mutation_p.A71G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	111	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A71D(1)|p.A111D(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						TTCTTCTAGAGCAAATGACTG	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - Missense(2)	lung(2)											156	148	151					8																	114326869		2203	4299	6502	SO:0001583	missense	0			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.332C>G	8.37:g.114326869G>C	ENSP00000297405:p.Ala111Gly		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A111G	ENST00000297405.5	37	c.332	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780692	0.70222	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000011	T	0.37376	0.1001	L	0.48218	1.51	0.47659	D	0.999487	D;D;D;D;P	0.89917	0.996;0.999;1.0;0.992;0.538	D;D;D;D;B	0.85130	0.99;0.994;0.997;0.989;0.298	T	0.00931	-1.1510	10	0.39692	T	0.17	.	18.8756	0.92334	0.0:0.0:1.0:0.0	.	111;111;111;111;71	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	G	71;111;111;111	ENSP00000345799:A71G;ENSP00000297405:A111G;ENSP00000412263:A111G;ENSP00000343124:A111G	ENSP00000297405:A111G	A	-	2	0	CSMD3	114396045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.860000	0.99555	2.697000	0.92050	0.557000	0.71058	GCT	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	52	0	G	NM_052900		114326869	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	13.51	64	10	SNP	1.000	C	C	114326869	G	C	114326869	3	2	133	1	0	0	0	0	1	0	0	0	3955	971	34	5	11071	5	CSMD3	8	114326869	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	18914217	114326869	32037153	225	34147											
TG	7038	genome.wustl.edu	37	chr8	134034380	134034380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctaccgagtgggtgtcttcGgcttcctgagttctggtgag	4	13	15	9	2	2	2	0	2	2	0	4	3	3	2	2	3	1	3	2	3	1	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr8:134034380G>C	ENST00000220616.4	+	40	7061	c.7021G>C	c.(7021-7023)Ggc>Cgc	p.G2341R	TG_ENST00000542445.1_Missense_Mutation_p.G711R|TG_ENST00000377869.1_Missense_Mutation_p.G2284R|TG_ENST00000519543.1_Missense_Mutation_p.G474R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2341					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)		GGGTGTCTTCGGCTTCCTGAG	0.617																																																	0													143	131	135					8																	134034380		2203	4300	6503	SO:0001583	missense	0			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.7021G>C	8.37:g.134034380G>C	ENSP00000220616:p.Gly2341Arg		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.G2341R	ENST00000220616.4	37	c.7021	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.880635|4.880635	0.91740|0.91740	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178;ENST00000518108	D;D;D;D|.	0.88124|.	-2.34;-2.34;-2.34;-2.34|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Carboxylesterase, type B (1);|.	0.062211|.	0.64402|.	D|.	0.000006|.	D|D	0.90995|0.90995	0.7168|0.7168	H|H	0.99026|0.99026	4.405|4.405	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.94045|0.94045	0.7313|0.7313	10|5	0.87932|.	D|.	0|.	.|.	17.0766|17.0766	0.86588|0.86588	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	474;711;2341|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	R|P	2284;1147;2341;711;474|796;136	ENSP00000367100:G2284R;ENSP00000220616:G2341R;ENSP00000441693:G711R;ENSP00000430430:G474R|.	ENSP00000220616:G2341R|.	G|R	+|+	1|2	0|0	TG|TG	134103562|134103562	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.976000|0.976000	0.68499|0.68499	8.497000|8.497000	0.90488|0.90488	2.815000|2.815000	0.96918|0.96918	0.561000|0.561000	0.74099|0.74099	GGC|CGG	TG	-	pfam_CarbesteraseB,pirsf_Thyroglobulin	ENSG00000042832		0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	64	0	G	NM_003235		134034380	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	15.28	61	11	SNP	1.000	C	C	134034380	G	C	134034380	3	2	133	1	0	0	0	0	1	0	0	0	15860	1116	39	5	7179	5	TG	8	134034380	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	19707511	134034380	12329642	226	34148											
COL22A1	169044	genome.wustl.edu	37	chr8	139815144	139815144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttctctcccttaggtccagGagcgccaaccggcccaatgg	7	9	10	15	2	1	0	0	0	1	0	4	1	3	1	5	4	2	0	5	4	3	2	rs376678600		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr8:139815144G>C	ENST00000303045.6	-	11	1974	c.1528C>G	c.(1528-1530)Cct>Gct	p.P510A	COL22A1_ENST00000435777.1_Missense_Mutation_p.P510A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	510	Collagen-like 1.|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)			TTAGGTCCAGGAGCGCCAACC	0.597										HNSCC(7;0.00092)																																							0													147	123	131					8																	139815144		2203	4300	6503	SO:0001583	missense	0			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.1528C>G	8.37:g.139815144G>C	ENSP00000303153:p.Pro510Ala		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.P510A	ENST00000303045.6	37	c.1528	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880233	0.51801	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.96554	-4.05;-4.05	4.88	3.92	0.45320	.	0.352176	0.20389	U	0.093287	D	0.95620	0.8576	M	0.68952	2.095	0.40292	D	0.978519	P	0.51057	0.941	P	0.49332	0.607	D	0.94105	0.7365	10	0.38643	T	0.18	.	10.4025	0.44237	0.0:0.1984:0.8016:0.0	.	510	Q8NFW1	COMA1_HUMAN	A	510	ENSP00000303153:P510A;ENSP00000387655:P510A	ENSP00000303153:P510A	P	-	1	0	COL22A1	139884326	0.999000	0.42202	0.969000	0.41365	0.847000	0.48162	2.572000	0.45999	2.643000	0.89663	0.655000	0.94253	CCT	COL22A1	-	NULL	ENSG00000169436		0.597	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	-	0	59	0	G	XM_291257		139815144	-1	tier1	-	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	14.94	74	13	SNP	0.952	C	C	139815144	G	C	139815144	3	2	133	1	0	0	0	0	1	0	0	0	3688	1174	41	5	3572	5	COL22A1	8	139815144	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5780764	139815144	6548878	227	34149											
BAI1	575	genome.wustl.edu	37	chr8	143618431	143618431	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ggctccttccagaacggccaCgcccagctcatggtaggact	8	7	11	15	2	1	1	1	0	0	1	3	2	3	2	4	4	2	3	4	4	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr8:143618431C>T	ENST00000517894.1	+	26	4548	c.3654C>T	c.(3652-3654)caC>caT	p.H1218H	BAI1_ENST00000323289.5_Silent_p.H1218H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1218					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)					AGAACGGCCACGCCCAGCTCA	0.687																																																	0													25	33	31					8																	143618431		2083	4202	6285	SO:0001819	synonymous_variant	0			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.3654C>T	8.37:g.143618431C>T				Silent	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.H1218	ENST00000517894.1	37	c.3654		8																																																																																			BAI1	-	NULL	ENSG00000181790		0.687	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	-	0	142	0	C	NM_001702		143618431	1	tier1	-	no_errors	ENST00000323289	ensembl	human	known	74_37	silent	5.29	197	11	SNP	0.704	T	T	143618431	C	T	143618431	2	4	133	1	0	0	0	0	0	0	0	1	1299	535	19	1		1	BAI1	8	143618431	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3803287	143618431	2745591	228	34150											
C8orf73	642475	genome.wustl.edu	37	chr8	144650733	144650733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgctgacctcagcagcgtCcctgctggggtcatgcaggc	5	8	14	14	1	2	1	2	1	0	0	3	1	3	1	2	3	5	5	2	3	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr8:144650733C>T	ENST00000398882.3	-	10	1889	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000524906.1_5'UTR	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	545																	TCAGCAGCGTCCCTGCTGGGG	0.701																																																	0													4	5	5					8																	144650733		1874	3901	5775	SO:0001583	missense	0			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1633G>A	8.37:g.144650733C>T	ENSP00000381857:p.Asp545Asn		A8MWB1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D545N	ENST00000398882.3	37	c.1633	CCDS47928.1	8	.	.	.	.	.	.	.	.	.	.	c	15.97	2.990128	0.54041	.	.	ENSG00000204839	ENST00000398882	T	0.41400	1.0	4.89	4.89	0.63831	Armadillo-type fold (1);	.	.	.	.	T	0.55369	0.1916	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.47446	-0.9117	9	0.21014	T	0.42	-20.3024	15.5415	0.76052	0.0:1.0:0.0:0.0	.	545	A6NGR9	CH073_HUMAN	N	545	ENSP00000381857:D545N	ENSP00000381857:D545N	D	-	1	0	C8orf73	144721876	0.004000	0.15560	0.036000	0.18154	0.135000	0.20990	0.535000	0.23114	2.266000	0.75297	0.543000	0.68304	GAC	MROH6	-	superfamily_ARM-type_fold	ENSG00000204839		0.701	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH6	HGNC	protein_coding	OTTHUMT00000382330.3	-	0	53	0	C	NM_001100878		144650733	-1	tier1	-	no_errors	ENST00000398882	ensembl	human	known	74_37	missense	14.29	48	8	SNP	0.125	T	T	144650733	C	T	144650733	3	4	133	1	0	0	0	0	1	0	0	0	2442	855	30	3	546	3	C8orf73	8	144650733	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1032302	144650733	1713289	229	34151											
GRINA	2907	genome.wustl.edu	37	chr8	145066491	145066491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggcagtcatcatggccGtgggcatcaccacagccgtc	8	6	12	15	3	3	0	3	0	0	0	4	1	3	0	4	3	1	2	4	3	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr8:145066491G>T	ENST00000313269.5	+	5	1050	c.772G>T	c.(772-774)Gtg>Ttg	p.V258L	GRINA_ENST00000395068.4_Missense_Mutation_p.V258L	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	258						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATCATGGCCGTGGGCATCAC	0.627																																																	0													99	79	86					8																	145066491		2203	4300	6503	SO:0001583	missense	0			NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 3"	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.772G>T	8.37:g.145066491G>T	ENSP00000314380:p.Val258Leu		B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.V258L	ENST00000313269.5	37	c.772	CCDS34961.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.76|15.76	2.929507|2.929507	0.52759|0.52759	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000533044;ENST00000527194|ENST00000313269;ENST00000529301;ENST00000395068;ENST00000537637	.|T;T;T	.|0.39229	.|1.09;1.09;1.09	5.28|5.28	4.4|4.4	0.53042|0.53042	.|.	.|0.157577	.|0.43110	.|D	.|0.000607	T|T	0.25082|0.25082	0.0609|0.0609	N|N	0.17872|0.17872	0.535|0.535	0.47441|0.47441	D|D	0.999423|0.999423	.|P	.|0.36438	.|0.553	.|B	.|0.39617	.|0.305	T|T	0.09662|0.09662	-1.0664|-1.0664	5|10	.|0.02654	.|T	.|1	-15.7342|-15.7342	9.8058|9.8058	0.40792|0.40792	0.0957:0.0:0.9043:0.0|0.0957:0.0:0.9043:0.0	.|.	.|258	.|Q7Z429	.|GRINA_HUMAN	L|L	80;70|258;258;258;239	.|ENSP00000314380:V258L;ENSP00000432706:V258L;ENSP00000378507:V258L	.|ENSP00000314380:V258L	R|V	+|+	2|1	0|0	GRINA|GRINA	145138479|145138479	1.000000|1.000000	0.71417|0.71417	0.854000|0.854000	0.33618|0.33618	0.573000|0.573000	0.36030|0.36030	3.683000|3.683000	0.54663|0.54663	1.224000|1.224000	0.43551|0.43551	0.650000|0.650000	0.86243|0.86243	CGT|GTG	GRINA	-	pfam_Bax_inhibitor_1-related	ENSG00000178719		0.627	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GRINA	HGNC	protein_coding	OTTHUMT00000384048.1	-	0	40	0	G	NM_001009184		145066491	1	tier1	-	no_errors	ENST00000313269	ensembl	human	known	74_37	missense	15.09	45	8	SNP	0.996	T	T	145066491	G	T	145066491	3	4	133	1	0	0	0	0	1	0	0	0	6812	1145	40	2	786	2	GRINA	8	145066491	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	415758	145066491	1297531	230	34152											
KDM4C	23081	genome.wustl.edu	37	chr9	6793022	6793022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtggaaagtcctctgaacCccagctgtaagataatgacc	13	8	10	10	0	1	3	0	2	1	1	2	4	2	4	4	2	2	2	4	2	4	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:6793022C>T	ENST00000381309.3	+	2	599	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	KDM4C_ENST00000381306.3_Missense_Mutation_p.P12S|KDM4C_ENST00000442236.2_5'UTR|KDM4C_ENST00000401787.3_Missense_Mutation_p.P12S|KDM4C_ENST00000535193.1_Missense_Mutation_p.P34S|KDM4C_ENST00000543771.1_Missense_Mutation_p.P12S|KDM4C_ENST00000536108.1_5'UTR|KDM4C_ENST00000489243.1_3'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	12					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TCCTCTGAACCCCAGCTGTAA	0.493																																																	0													153	161	158					9																	6793022		2203	4300	6503	SO:0001583	missense	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.34C>T	9.37:g.6793022C>T	ENSP00000370710:p.Pro12Ser		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.P12S	ENST00000381309.3	37	c.34	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936666	0.73442	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000401787;ENST00000381309;ENST00000381306	T;T;T;T;T	0.18657	2.2;2.2;2.26;2.38;2.27	5.58	5.58	0.84498	.	0.058053	0.64402	D	0.000001	T	0.42063	0.1186	M	0.62088	1.915	0.80722	D	1	D;B;B;B;B;B	0.63046	0.992;0.217;0.0;0.186;0.03;0.091	P;B;B;B;B;B	0.60012	0.867;0.103;0.001;0.114;0.025;0.098	T	0.08806	-1.0704	10	0.45353	T	0.12	-0.7953	18.3414	0.90307	0.0:1.0:0.0:0.0	.	12;12;12;34;12;12	F5H347;B4E1Y4;B0QZ60;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	S	34;12;12;12;12	ENSP00000442382:P34S;ENSP00000445427:P12S;ENSP00000383990:P12S;ENSP00000370710:P12S;ENSP00000370707:P12S	ENSP00000370707:P12S	P	+	1	0	KDM4C	6783022	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.264000	0.65513	2.597000	0.87782	0.655000	0.94253	CCC	KDM4C	-	NULL	ENSG00000107077		0.493	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	-	0	86	0	C	NM_015061		6793022	1	tier1	-	no_errors	ENST00000381309	ensembl	human	known	74_37	missense	5.43	87	5	SNP	1.000	T	T	6793022	C	T	6793022	3	4	133	1	0	0	0	0	1	0	0	0	8157	623	22	3	106	3	KDM4C	9	6793022	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		6793022	134420409	231	34153											
TMEM215	401498	genome.wustl.edu	37	chr9	32784186	32784186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatggagtgaaacatgcGgcctgatgacattaacccga	12	8	12	9	2	0	3	0	3	0	0	0	6	0	5	2	3	3	0	2	3	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:32784186G>T	ENST00000342743.5	+	2	370	c.5G>T	c.(4-6)cGg>cTg	p.R2L		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	2						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TGAAACATGCGGCCTGATGAC	0.527																																																	0													99	98	98					9																	32784186		2203	4300	6503	SO:0001583	missense	0				CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.5G>T	9.37:g.32784186G>T	ENSP00000345468:p.Arg2Leu		Q6ZUU2	Missense_Mutation	SNP	NULL	p.R2L	ENST00000342743.5	37	c.5	CCDS6530.1	9	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577905	0.45902	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.31	5.31	0.75309	.	0.084595	0.49305	D	0.000143	T	0.63522	0.2518	L	0.27053	0.805	0.46499	D	0.999079	D	0.67145	0.996	P	0.62885	0.908	T	0.67821	-0.5571	9	0.87932	D	0	-18.6034	16.4706	0.84111	0.0:0.0:1.0:0.0	.	2	Q68D42	TM215_HUMAN	L	2	.	ENSP00000345468:R2L	R	+	2	0	TMEM215	32774186	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.803000	0.69129	2.494000	0.84150	0.462000	0.41574	CGG	TMEM215	-	NULL	ENSG00000188133		0.527	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM215	HGNC	protein_coding	OTTHUMT00000251701.1	-	0	56	0	G	NM_212558		32784186	1	tier1	-	no_errors	ENST00000342743	ensembl	human	known	74_37	missense	8.33	66	6	SNP	1.000	T	T	32784186	G	T	32784186	3	4	133	1	0	0	0	0	1	0	0	0	16185	1116	39	2	7	2	TMEM215	9	32784186	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	25991164	32784186	108429245	232	34154											
TRPM3	80036	genome.wustl.edu	37	chr9	73477993	73477993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggagatactgggggtgaggCcaacatgctggcctatcaga	10	7	15	9	1	1	3	1	1	0	2	1	4	1	3	2	5	3	1	2	5	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:73477993C>A	ENST00000377111.2	-	3	536	c.293G>T	c.(292-294)gGc>gTc	p.G98V	TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000408909.2_5'Flank|TRPM3_ENST00000377097.3_5'Flank|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000377110.3_Missense_Mutation_p.G98V|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000357533.2_Missense_Mutation_p.G100V|TRPM3_ENST00000423814.3_Missense_Mutation_p.G100V|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000396285.1_5'Flank	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	98					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						GGGGGTGAGGCCAACATGCTG	0.473																																																	0													91	99	96					9																	73477993		2203	4299	6502	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.293G>T	9.37:g.73477993C>A	ENSP00000366315:p.Gly98Val		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.G100V	ENST00000377111.2	37	c.299		9	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771456	0.90108	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000357533;ENST00000423814	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	L	0.38953	1.18	0.80722	D	1	P;P;D;B	0.57571	0.885;0.778;0.98;0.185	B;B;P;B	0.59825	0.244;0.312;0.864;0.132	T	0.51116	-0.8746	10	0.23302	T	0.38	2.5484	20.3854	0.98941	0.0:1.0:0.0:0.0	.	98;100;98;98	Q9HCF6;Q4VXD2;Q9HCF6-2;Q9HCF6-10	TRPM3_HUMAN;.;.;.	V	98;98;100;100	ENSP00000366315:G98V;ENSP00000366314:G98V;ENSP00000350140:G100V;ENSP00000389542:G100V	ENSP00000350140:G100V	G	-	2	0	TRPM3	72667813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.772000	0.68889	2.825000	0.97269	0.655000	0.94253	GGC	TRPM3	-	NULL	ENSG00000083067		0.473	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0	52	0	C	NM_206945		73477993	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	20.83	57	15	SNP	1.000	A	A	73477993	C	A	73477993	3	1	133	1	0	0	0	0	1	0	0	0	16635	739	26	3	5045	3	TRPM3	9	73477993	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	40693807	73477993	67735438	233	34155											
TRPM6	140803	genome.wustl.edu	37	chr9	77377185	77377185	+	Missense_Mutation	SNP	T	T	C	0	1	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	ggtttgccactttttcttgaTgctaaacacaccagtttcat	9	16	6	10	0	2	1	1	1	1	0	2	1	2	1	2	1	3	3	2	1	2	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:77377185T>C	ENST00000360774.1	-	26	4639	c.4402A>G	c.(4402-4404)Atc>Gtc	p.I1468V	TRPM6_ENST00000449912.2_Missense_Mutation_p.I1463V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.I1468V|TRPM6_ENST00000451710.3_Missense_Mutation_p.I1468V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.I1463V	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1468					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						TTTTTCTTGATGCTAAACACA	0.493																																																	0													126	122	124					9																	77377185		2203	4300	6503	SO:0001583	missense	0			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.4402A>G	9.37:g.77377185T>C	ENSP00000354006:p.Ile1468Val		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.I1468V	ENST00000360774.1	37	c.4402	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	T	0.465	-0.887242	0.02511	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.52526	0.76;0.76;0.76;0.76;0.66	5.54	-1.65	0.08291	.	0.606749	0.16116	N	0.228867	T	0.17619	0.0423	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.13361	-1.0512	10	0.14656	T	0.56	.	1.696	0.02862	0.4242:0.0768:0.2113:0.2877	.	1468;1463;1463	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	V	1468;1468;1463;1463;1468	ENSP00000354006:I1468V;ENSP00000407341:I1468V;ENSP00000396672:I1463V;ENSP00000354962:I1463V;ENSP00000366060:I1468V	ENSP00000354006:I1468V	I	-	1	0	TRPM6	76567005	0.000000	0.05858	0.009000	0.14445	0.099000	0.18886	-0.562000	0.05950	-0.183000	0.10585	0.533000	0.62120	ATC	TRPM6	-	NULL	ENSG00000119121		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1		0	53	0	T	NM_017662		77377185	-1			no_errors	ENST00000451710	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.005	C	C	77377185	T	C	77377185	3	2	133	1	0	0	0	0	1	0	0	0	16638	1464	51	4	1722	4	TRPM6	9	77377185	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	3899192	77377185	63836246	234	34156											
FLJ46321	389763	genome.wustl.edu	37	chr9	84609130	84609130	+	Missense_Mutation	SNP	A	A	T	1	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	agggcatctcgagtggggacAtgggaacttcccaggtggtg	8	8	17	8	1	1	0	0	0	1	0	3	3	2	2	1	6	1	1	1	6	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:84609130A>T	ENST00000344803.2	+	4	3792	c.3745A>T	c.(3745-3747)Atg>Ttg	p.M1249L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1249					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGTGGGGACATGGGAACTTC	0.522																																																	0													178	171	173					9																	84609130		1988	4177	6165	SO:0001583	missense	0				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.3745A>T	9.37:g.84609130A>T	ENSP00000341988:p.Met1249Leu			Missense_Mutation	SNP	NULL	p.M1249L	ENST00000344803.2	37	c.3745	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	A	11.18	1.563316	0.27915	.	.	ENSG00000214929	ENST00000344803	T	0.06687	3.27	3.26	-3.88	0.04205	.	.	.	.	.	T	0.04861	0.0131	L	0.27053	0.805	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.41395	-0.9511	9	0.31617	T	0.26	-1.075	4.9734	0.14127	0.2645:0.3835:0.352:0.0	.	1249	Q6ZQQ2	F75D1_HUMAN	L	1249	ENSP00000341988:M1249L	ENSP00000341988:M1249L	M	+	1	0	FAM75D1	83798950	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.035000	0.13797	-0.822000	0.04306	-0.331000	0.08364	ATG	SPATA31D1	-	NULL	ENSG00000214929		0.522	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	97	0	A	NM_001001670		84609130	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	5.08	112	6	SNP	0.000	T	T	84609130	A	T	84609130	3	4	133	1	0	0	0	0	1	0	0	0	5954	217	8	5	3759	5	FLJ46321	9	84609130	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	7231945	84609130	56604301	235	34157											
FLJ46321	389763	genome.wustl.edu	37	chr9	84610013	84610013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgtgtccagccgtccCaaccagtgctaaaagccctg	8	8	10	15	1	0	0	0	0	0	0	2	0	2	0	6	1	4	1	6	1	3	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:84610013C>A	ENST00000344803.2	+	4	4675	c.4628C>A	c.(4627-4629)cCa>cAa	p.P1543Q		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1543					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCAGCCGTCCCAACCAGTGCT	0.527																																																	0													21	23	22					9																	84610013		2101	4234	6335	SO:0001583	missense	0				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.4628C>A	9.37:g.84610013C>A	ENSP00000341988:p.Pro1543Gln			Missense_Mutation	SNP	NULL	p.P1543Q	ENST00000344803.2	37	c.4628	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276950	0.23307	.	.	ENSG00000214929	ENST00000344803	T	0.08282	3.11	1.97	-3.95	0.04118	.	.	.	.	.	T	0.07773	0.0195	N	0.14661	0.345	0.09310	N	1	P	0.41041	0.736	P	0.50708	0.648	T	0.31641	-0.9936	9	0.54805	T	0.06	-0.5881	7.4109	0.27017	0.0:0.3308:0.0:0.6692	.	1543	Q6ZQQ2	F75D1_HUMAN	Q	1543	ENSP00000341988:P1543Q	ENSP00000341988:P1543Q	P	+	2	0	FAM75D1	83799833	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.235000	0.02928	-1.208000	0.02634	-0.755000	0.03482	CCA	SPATA31D1	-	NULL	ENSG00000214929		0.527	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	75	0	C	NM_001001670		84610013	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	12.99	67	10	SNP	0.000	A	A	84610013	C	A	84610013	3	1	133	1	0	0	0	0	1	0	0	0	5954	594	21	3	4642	3	FLJ46321	9	84610013	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	883	84610013	56603418	236	34158											
FRMD3	257019	genome.wustl.edu	37	chr9	85958132	85958132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	aatacaggcacccaggtaggCagcatcagaaaaggagcaca	17	3	11	10	0	1	1	1	0	0	1	1	2	1	2	1	4	3	5	1	4	5	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:85958132C>A	ENST00000304195.3	-	5	651	c.445G>T	c.(445-447)Gcc>Tcc	p.A149S	FRMD3_ENST00000376438.1_Missense_Mutation_p.A149S	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	149	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CCCAGGTAGGCAGCATCAGAA	0.488																																																	0													110	117	114					9																	85958132		2069	4224	6293	SO:0001583	missense	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.445G>T	9.37:g.85958132C>A	ENSP00000303508:p.Ala149Ser		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.A149S	ENST00000304195.3	37	c.445	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.631196	0.96682	.	.	ENSG00000172159	ENST00000376438;ENST00000304195;ENST00000376422	T;T	0.78707	-1.2;-1.2	6.17	6.17	0.99709	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	0.89598	0.6761	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89305	0.3629	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	149;149	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	S	149;149;45	ENSP00000365621:A149S;ENSP00000303508:A149S	ENSP00000303508:A149S	A	-	1	0	FRMD3	85147952	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.631000	0.83237	2.941000	0.99782	0.655000	0.94253	GCC	FRMD3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	ENSG00000172159		0.488	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	-	0	72	0	C	NM_174938		85958132	-1	tier1	-	no_errors	ENST00000304195	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	A	A	85958132	C	A	85958132	3	1	133	1	0	0	0	0	1	0	0	0	6074	710	25	3	1388	3	FRMD3	9	85958132	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1348119	85958132	55255299	237	34159											
CTSL1	1514	genome.wustl.edu	37	chr9	90343008	90343008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgattgaactgcacaatcagGaatacagggaagggaaacac	17	6	11	7	0	1	2	1	2	0	0	1	5	1	5	0	3	4	1	0	3	6	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:90343008G>C	ENST00000343150.5	+	3	1083	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	CTSL_ENST00000340342.6_Missense_Mutation_p.E65Q|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Missense_Mutation_p.E65Q			P07711	CATL1_HUMAN	cathepsin L	65					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)										GCACAATCAGGAATACAGGGA	0.473																																																	0													209	179	189					9																	90343008		2203	4300	6503	SO:0001583	missense	0			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.193G>C	9.37:g.90343008G>C	ENSP00000345344:p.Glu65Gln		Q6IAV1|Q96QJ0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E65Q	ENST00000343150.5	37	c.193	CCDS6675.1	9	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897706	0.72639	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	T;T;T	0.22336	1.96;1.96;1.96	4.09	4.09	0.47781	Proteinase inhibitor I29, cathepsin propeptide (2);	0.095859	0.64402	D	0.000001	T	0.32224	0.0822	M	0.62266	1.93	0.58432	D	0.999999	P	0.46457	0.878	P	0.48270	0.572	T	0.18053	-1.0349	10	0.52906	T	0.07	.	16.469	0.84095	0.0:0.0:1.0:0.0	.	65	P07711	CATL1_HUMAN	Q	65	ENSP00000345344:E65Q;ENSP00000365061:E65Q;ENSP00000340470:E65Q	ENSP00000365061:E65Q	E	+	1	0	CTSL1	89532828	1.000000	0.71417	0.009000	0.14445	0.640000	0.38277	8.324000	0.90005	2.100000	0.63781	0.491000	0.48974	GAA	CTSL	-	pfam_Prot_inhib_I29,smart_Prot_inhib_I29	ENSG00000135047		0.473	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL	HGNC	protein_coding	OTTHUMT00000052936.1	-	0	257	0	G	NM_001912		90343008	1	tier1	-	no_errors	ENST00000340342	ensembl	human	known	74_37	missense	11.65	235	31	SNP	1.000	C	C	90343008	G	C	90343008	3	2	133	1	0	0	0	0	1	0	0	0	4047	1175	41	5	199	5	CTSL1	9	90343008	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	4384876	90343008	50870423	238	34160											
ROR2	4920	genome.wustl.edu	37	chr9	94486219	94486219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcttggggaccatctgagGaggcacctgctgcggggcca	6	6	18	11	1	1	1	0	1	1	0	1	3	1	3	3	7	2	3	3	7	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:94486219G>T	ENST00000375708.3	-	9	2755	c.2557C>A	c.(2557-2559)Cct>Act	p.P853T	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	853	Pro-rich.				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						ACCATCTGAGGAGGCACCTGC	0.652																																																	0													90	91	91					9																	94486219		2203	4300	6503	SO:0001583	missense	0			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.2557C>A	9.37:g.94486219G>T	ENSP00000364860:p.Pro853Thr		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P853T	ENST00000375708.3	37	c.2557	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	G	1.823	-0.471805	0.04445	.	.	ENSG00000169071	ENST00000375708	T	0.77229	-1.08	4.73	0.471	0.16752	.	0.384670	0.18713	N	0.133224	T	0.56202	0.1969	N	0.08118	0	0.09310	N	1	B	0.18741	0.03	B	0.15870	0.014	T	0.44922	-0.9296	10	0.32370	T	0.25	.	11.9752	0.53087	0.0802:0.2753:0.6444:0.0	.	853	Q01974	ROR2_HUMAN	T	853	ENSP00000364860:P853T	ENSP00000364860:P853T	P	-	1	0	ROR2	93526040	0.993000	0.37304	0.036000	0.18154	0.034000	0.12701	4.072000	0.57563	0.220000	0.20860	-0.502000	0.04539	CCT	ROR2	-	pirsf_Tyr_kinase_rcpt_ROR	ENSG00000169071		0.652	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	-	0	48	0	G			94486219	-1	tier1	-	no_errors	ENST00000375708	ensembl	human	known	74_37	missense	15.79	64	12	SNP	0.014	T	T	94486219	G	T	94486219	3	4	133	1	0	0	0	0	1	0	0	0	13572	1174	41	3	278	3	ROR2	9	94486219	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	4143211	94486219	46727212	239	34161											
NOL8	55035	genome.wustl.edu	37	chr9	95076562	95076562	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcaccaaatttgccagaGcattatgcaccagcttcttc	11	12	5	13	0	2	1	1	0	1	1	3	1	2	1	3	0	5	3	3	0	3	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:95076562G>C	ENST00000535387.1	-	6	2344	c.2345C>G	c.(2344-2346)gCt>gGt	p.A782G	NOL8_ENST00000542053.1_Missense_Mutation_p.A714G|NOL8_ENST00000442668.2_Missense_Mutation_p.A782G|NOL8_ENST00000358855.4_Missense_Mutation_p.A714G|NOL8_ENST00000545558.1_Missense_Mutation_p.A782G					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATTTGCCAGAGCATTATGCAC	0.418																																																	0													82	77	78					9																	95076562		1943	4134	6077	SO:0001583	missense	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2345C>G	9.37:g.95076562G>C	ENSP00000441300:p.Ala782Gly			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A782G	ENST00000535387.1	37	c.2345	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744666	0.89663	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.52526	1.74;1.74;1.74;0.66;1.74;0.66	5.38	5.38	0.77491	.	0.049103	0.85682	D	0.000000	T	0.72269	0.3439	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76214	-0.3041	10	0.87932	D	0	-15.5305	19.1291	0.93397	0.0:0.0:1.0:0.0	.	782	Q76FK4	NOL8_HUMAN	G	782;784;714;782;782;714;782	ENSP00000401177:A782G;ENSP00000351723:A714G;ENSP00000441140:A782G;ENSP00000441300:A782G;ENSP00000440709:A714G;ENSP00000414112:A782G	ENSP00000351723:A714G	A	-	2	0	NOL8	94116383	1.000000	0.71417	0.467000	0.27180	0.941000	0.58515	8.641000	0.91032	2.506000	0.84524	0.561000	0.74099	GCT	NOL8	-	NULL	ENSG00000198000		0.418	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2		0	38	0	G	NM_017948		95076562	-1			no_errors	ENST00000442668	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	C	C	95076562	G	C	95076562	3	2	133	1	0	0	0	0	1	0	0	0	10566	971	34	5	1202	5	NOL8	9	95076562	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	590343	95076562	46136869	240	34162											
TBC1D2	55357	genome.wustl.edu	37	chr9	100975482	100975482	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagcagttctgggtccGgtaagcttccatgtcatcct	8	11	12	10	1	2	0	1	0	1	0	5	2	5	1	3	3	2	4	3	3	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:100975482G>T	ENST00000375064.1	-	7	1431	c.1393C>A	c.(1393-1395)Cgg>Agg	p.R465R	TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000342112.5_Silent_p.R247R|TBC1D2_ENST00000375066.5_Silent_p.R465R|TBC1D2_ENST00000375063.1_Silent_p.R5R	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	465					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TTCTGGGTCCGGTAAGCTTCC	0.522																																																	0													109	99	102					9																	100975482		2203	4300	6503	SO:0001819	synonymous_variant	0			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1393C>A	9.37:g.100975482G>T			B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.R465	ENST00000375064.1	37	c.1393		9																																																																																			TBC1D2	-	NULL	ENSG00000095383		0.522	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	TBC1D2	HGNC	protein_coding	OTTHUMT00000053366.1	-	0	81	0	G	NM_018421		100975482	-1	tier1	-	no_errors	ENST00000375066	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	T	T	100975482	G	T	100975482	2	4	133	1	0	0	0	0	0	0	0	1	15655	1115	39	2		2	TBC1D2	9	100975482	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5898920	100975482	40237949	241	34163											
ALDOB	229	genome.wustl.edu	37	chr9	104187755	104187755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaacagctgcaggaacaGtacggtggagagctgttacg	12	6	15	8	2	0	1	0	0	0	1	0	4	0	3	0	4	7	5	0	4	4	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:104187755G>T	ENST00000374855.4	-	7	903	c.779C>A	c.(778-780)aCt>aAt	p.T260N	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	260					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGCAGGAACAGTACGGTGGAG	0.493																																																	0													230	181	198					9																	104187755		2203	4300	6503	SO:0001583	missense	0			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.779C>A	9.37:g.104187755G>T	ENSP00000363988:p.Thr260Asn		Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	pfam_Aldolase_I	p.T260N	ENST00000374855.4	37	c.779	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949729	0.73787	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.87103	-2.21	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	M	0.80982	2.52	0.80722	D	1	B	0.33103	0.397	P	0.50231	0.635	D	0.92068	0.5662	10	0.72032	D	0.01	-23.7343	19.6279	0.95687	0.0:0.0:1.0:0.0	.	260	P05062	ALDOB_HUMAN	N	260;187;260	ENSP00000363988:T260N	ENSP00000363986:T187N	T	-	2	0	ALDOB	103227576	1.000000	0.71417	0.248000	0.24265	0.324000	0.28378	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	ACT	ALDOB	-	pfam_Aldolase_I	ENSG00000136872		0.493	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	-	0	89	0	G			104187755	-1	tier1	-	no_errors	ENST00000374855	ensembl	human	known	74_37	missense	13.59	89	14	SNP	0.999	T	T	104187755	G	T	104187755	3	4	133	1	0	0	0	0	1	0	0	0	508	1029	36	3	327	3	ALDOB	9	104187755	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3212273	104187755	37025676	242	34164											
ABCA1	19	genome.wustl.edu	37	chr9	107581886	107581886	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtcggtatttcagcagCagctcccatattcccctgcg	6	12	8	15	2	1	0	1	0	0	0	4	0	3	0	4	1	4	4	4	1	2	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:107581886C>A	ENST00000374736.3	-	22	3616	c.3222G>T	c.(3220-3222)ctG>ctT	p.L1074L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1074	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	ATTTCAGCAGCAGCTCCCATA	0.517																																																	0													113	118	116					9																	107581886		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3222G>T	9.37:g.107581886C>A			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1074	ENST00000374736.3	37	c.3222	CCDS6762.1	9																																																																																			ABCA1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000165029		0.517	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	-	0	87	0	C	NM_005502		107581886	-1	tier1	-	no_errors	ENST00000374736	ensembl	human	known	74_37	silent	14.08	61	10	SNP	1.000	A	A	107581886	C	A	107581886	2	1	133	1	0	0	0	0	0	0	0	1	28	697	25	3		3	ABCA1	9	107581886	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3394131	107581886	33631545	243	34165											
SVEP1	79987	genome.wustl.edu	37	chr9	113308490	113308490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacatttgcagcttcccattCggtcacagcagtccttgcct	7	12	7	15	1	1	0	1	0	0	0	4	0	3	0	3	1	4	3	3	1	0	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:113308490C>T	ENST00000401783.2	-	3	1205	c.869G>A	c.(868-870)cGa>cAa	p.R290Q	SVEP1_ENST00000374469.1_Missense_Mutation_p.R267Q|SVEP1_ENST00000374461.1_Missense_Mutation_p.R267Q|SVEP1_ENST00000302728.8_Missense_Mutation_p.R290Q|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	290					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						GCTTCCCATTCGGTCACAGCA	0.443																																																	0													85	80	82					9																	113308490		1968	4152	6120	SO:0001583	missense	0			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.869G>A	9.37:g.113308490C>T	ENSP00000384917:p.Arg290Gln		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.R290Q	ENST00000401783.2	37	c.869	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663121	0.29515	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	6.04	0.484	0.16825	Growth factor, receptor (1);	0.470071	0.21700	N	0.070425	D	0.90786	0.7107	L	0.29908	0.895	0.24203	N	0.995508	B;B;B	0.13594	0.0;0.0;0.008	B;B;B	0.06405	0.0;0.0;0.002	T	0.79017	-0.1975	10	0.14252	T	0.57	.	4.3987	0.11376	0.301:0.336:0.0:0.363	.	290;290;290	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	Q	290;267;290;267	ENSP00000384917:R290Q;ENSP00000363593:R267Q;ENSP00000304118:R290Q;ENSP00000363585:R267Q	ENSP00000304118:R290Q	R	-	2	0	SVEP1	112348311	0.993000	0.37304	0.989000	0.46669	0.888000	0.51559	0.795000	0.26972	0.135000	0.18707	-0.244000	0.11960	CGA	SVEP1	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000165124		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		-	0	80	0	C			113308490	-1	tier1	-	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	21.84	68	19	SNP	0.993	T	T	113308490	C	T	113308490	3	4	133	1	0	0	0	0	1	0	0	0	15467	884	31	1	10030	1	SVEP1	9	113308490	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	5726604	113308490	27904941	244	34166											
OR2K2	26248	genome.wustl.edu	37	chr9	114089878	114089878	+	Missense_Mutation	SNP	A	A	T	1	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	ggttcaacataggggtaagcActccgtaaagcaacgagatg	14	7	12	8	2	1	1	1	0	0	1	2	2	2	1	1	3	4	5	1	3	6	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:114089878A>T	ENST00000374428.1	-	1	922	c.923T>A	c.(922-924)gTg>gAg	p.V308E	OR2K2_ENST00000302681.1_Missense_Mutation_p.V279E			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	308						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)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGGGGTAAGCACTCCGTAAAG	0.378																																																	0													132	125	127					9																	114089878		2203	4300	6503	SO:0001583	missense	0			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.923T>A	9.37:g.114089878A>T	ENSP00000363550:p.Val308Glu		Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V308E	ENST00000374428.1	37	c.923		9	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137067	0.56936	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00316	8.13;8.13	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36555	U	0.002526	T	0.00784	0.0026	H	0.97365	3.99	0.22050	N	0.9994	D	0.53151	0.958	P	0.51742	0.678	T	0.15009	-1.0452	10	0.87932	D	0	.	12.3631	0.55215	1.0:0.0:0.0:0.0	.	308	Q8NGT1	OR2K2_HUMAN	E	279;308	ENSP00000305055:V279E;ENSP00000363550:V308E	ENSP00000305055:V279E	V	-	2	0	OR2K2	113129699	0.025000	0.19082	0.984000	0.44739	0.947000	0.59692	2.971000	0.49248	2.085000	0.62840	0.482000	0.46254	GTG	OR2K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171133		0.378	OR2K2-201	KNOWN	basic	protein_coding	OR2K2	HGNC	protein_coding		-	0	84	0	A	NM_205859		114089878	-1	tier1	-	no_errors	ENST00000374428	ensembl	human	known	74_37	missense	13.00	87	13	SNP	0.054	T	T	114089878	A	T	114089878	3	4	133	1	0	0	0	0	1	0	0	0	11044	159	6	5	117	5	OR2K2	9	114089878	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	781388	114089878	27123553	245	34167											
SLC2A6	11182	genome.wustl.edu	37	chr9	136339163	136339163	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagggcggcgatcagcacGgacaggagccgcacggcccc	8	2	17	14	5	1	1	1	1	0	0	1	4	1	3	3	5	2	2	3	5	0	0	rs372931255		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:136339163G>T	ENST00000371899.4	-	7	1052	c.975C>A	c.(973-975)tcC>tcA	p.S325S	SLC2A6_ENST00000371897.4_Silent_p.S325S|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	325					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGATCAGCACGGACAGGAGCC	0.687																																																	0													33	29	30					9																	136339163		2196	4297	6493	SO:0001819	synonymous_variant	0			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.975C>A	9.37:g.136339163G>T			A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.S325	ENST00000371899.4	37	c.975	CCDS6975.1	9																																																																																			SLC2A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000160326		0.687	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1	-	0	91	0	G	NM_017585		136339163	-1	tier1	-	no_errors	ENST00000371899	ensembl	human	known	74_37	silent	12.22	79	11	SNP	0.267	T	T	136339163	G	T	136339163	2	4	133	1	0	0	0	0	0	0	0	1	14594	1103	39	2		2	SLC2A6	9	136339163	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	22249285	136339163	4874268	246	34168											
UAP1L1	91373	genome.wustl.edu	37	chr9	139975304	139975304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttcctggatgcccatgggGcctggctcccagagctgccc	4	8	13	16	0	0	1	0	0	0	1	2	2	2	2	5	4	3	3	5	4	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr9:139975304G>T	ENST00000409858.3	+	7	1374	c.1342G>T	c.(1342-1344)Gcc>Tcc	p.A448S	UAP1L1_ENST00000360271.3_Missense_Mutation_p.A325S	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	448							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)		TGCCCATGGGGCCTGGCTCCC	0.692																																																	0													15	19	17					9																	139975304		2193	4285	6478	SO:0001583	missense	0			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.1342G>T	9.37:g.139975304G>T	ENSP00000386935:p.Ala448Ser		A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	pfam_UDPGP_trans	p.A448S	ENST00000409858.3	37	c.1342	CCDS7028.2	9	.	.	.	.	.	.	.	.	.	.	G	0.772	-0.765527	0.02996	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.16597	2.33;2.33	4.03	2.12	0.27331	.	1.161700	0.06172	N	0.677815	T	0.08492	0.0211	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.008;0.006	B;B	0.15052	0.012;0.012	T	0.34079	-0.9843	10	0.02654	T	1	.	5.1291	0.14899	0.1041:0.0:0.5076:0.3883	.	448;325	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	S	448;325	ENSP00000386935:A448S;ENSP00000353409:A325S	ENSP00000353409:A325S	A	+	1	0	UAP1L1	139095125	0.000000	0.05858	0.022000	0.16811	0.124000	0.20399	0.438000	0.21559	0.181000	0.19994	-0.311000	0.09066	GCC	UAP1L1	-	pfam_UDPGP_trans	ENSG00000197355		0.692	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UAP1L1	HGNC	protein_coding	OTTHUMT00000055216.2	-	0	65	0	G	XM_038063		139975304	1	tier1	-	no_errors	ENST00000409858	ensembl	human	known	74_37	missense	11.27	63	8	SNP	0.012	T	T	139975304	G	T	139975304	3	4	133	1	0	0	0	0	1	0	0	0	16875	1203	42	3	1368	3	UAP1L1	9	139975304	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3636141	139975304	1238127	247	34169											
AKR1C4	1109	genome.wustl.edu	37	chr10	5260694	5260694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttcagtcttatggaccatCctgattatccattttcagat	9	18	5	9	0	3	2	2	1	1	1	5	3	5	3	3	1	0	0	3	1	2	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:5260694C>A	ENST00000380448.1	+	11	1196	c.943C>A	c.(943-945)Cct>Act	p.P315T	AKR1C4_ENST00000263126.1_Missense_Mutation_p.P315T			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	315					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						TATGGACCATCCTGATTATCC	0.393																																																	0													152	129	137					10																	5260694		2203	4300	6503	SO:0001583	missense	0			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.943C>A	10.37:g.5260694C>A	ENSP00000369814:p.Pro315Thr		Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.P315T	ENST00000380448.1	37	c.943	CCDS7064.1	10	.	.	.	.	.	.	.	.	.	.	C	7.755	0.704233	0.15172	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.50001	0.76;0.76	2.83	1.79	0.24919	NADP-dependent oxidoreductase domain (2);	0.104164	0.40640	N	0.001044	T	0.48205	0.1487	M	0.86097	2.795	0.09310	N	1	B	0.30686	0.29	B	0.27715	0.082	T	0.53034	-0.8495	10	0.66056	D	0.02	.	9.7692	0.40578	0.0:0.7875:0.2124:0.0	.	315	P17516	AK1C4_HUMAN	T	315	ENSP00000369814:P315T;ENSP00000263126:P315T	ENSP00000263126:P315T	P	+	1	0	AKR1C4	5250694	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.437000	0.21543	1.272000	0.44329	0.313000	0.20887	CCT	AKR1C4	-	superfamily_NADP_OxRdtase_dom	ENSG00000198610		0.393	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	HGNC	protein_coding	OTTHUMT00000046543.2	-	0	53	0	C	NM_001818		5260694	1	tier1	-	no_errors	ENST00000263126	ensembl	human	known	74_37	missense	12.50	56	8	SNP	0.007	A	A	5260694	C	A	5260694	3	1	133	1	0	0	0	0	1	0	0	0	472	855	30	3	977	3	AKR1C4	10	5260694	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		5260694	130274053	248	34170											
CALML5	51806	genome.wustl.edu	37	chr10	5541125	5541125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgatgtggccgtcgccatCctggtcgaaggcgcggaagg	6	7	18	10	5	0	1	0	1	0	0	3	3	1	2	3	6	0	0	3	6	2	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:5541125C>A	ENST00000380332.3	-	1	408	c.277G>T	c.(277-279)Gat>Tat	p.D93Y		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	93	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epidermis development (GO:0008544)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CCGTCGCCATCCTGGTCGAAG	0.711																																					GBM(149;1055 3356 43077)												0													26	27	27					10																	5541125		2203	4299	6502	SO:0001583	missense	0			AF172852	CCDS7068.1	10p15.1	2013-01-10			ENSG00000178372	ENSG00000178372		"EF-hand domain containing"	18180	protein-coding gene	gene with protein product	"calmodulin-like skin protein"	605183				10777582	Standard	NM_017422		Approved	CLSP	uc001iic.2	Q9NZT1	OTTHUMG00000017598	ENST00000380332.3:c.277G>T	10.37:g.5541125C>A	ENSP00000369689:p.Asp93Tyr		Q5SQI3|Q8IXU8	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D93Y	ENST00000380332.3	37	c.277	CCDS7068.1	10	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677481	0.29783	.	.	ENSG00000178372	ENST00000380332	T	0.55760	0.5	4.68	-3.08	0.05347	EF-hand-like domain (1);	0.546439	0.17388	N	0.176053	T	0.77239	0.4101	H	0.97732	4.065	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.69533	-0.5120	10	0.87932	D	0	-36.4178	10.4138	0.44309	0.0:0.6123:0.0:0.3877	.	93	Q9NZT1	CALL5_HUMAN	Y	93	ENSP00000369689:D93Y	ENSP00000369689:D93Y	D	-	1	0	CALML5	5531125	0.021000	0.18746	0.000000	0.03702	0.000000	0.00434	1.229000	0.32600	-0.644000	0.05465	-0.768000	0.03414	GAT	CALML5	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000178372		0.711	CALML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALML5	HGNC	protein_coding	OTTHUMT00000046556.1		0	11	0	C	NM_017422		5541125	-1			no_errors	ENST00000380332	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.009	A	A	5541125	C	A	5541125	3	1	133	1	0	0	0	0	1	0	0	0	2596	855	30	3	167	3	CALML5	10	5541125	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	280431	5541125	129993622	249	34171											
CUBN	8029	genome.wustl.edu	37	chr10	16992031	16992031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcttcgtggccgccatcCaaaatttctacaaagtcacg	10	10	8	13	4	3	0	1	0	2	0	5	0	4	0	3	1	1	0	3	1	4	3	rs141941868	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:16992031C>A	ENST00000377833.4	-	34	5114	c.5049G>T	c.(5047-5049)ttG>ttT	p.L1683F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1683	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCCGCCATCCAAAATTTCTA	0.443																																																	0													77	70	72					10																	16992031		2203	4300	6503	SO:0001583	missense	0			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.5049G>T	10.37:g.16992031C>A	ENSP00000367064:p.Leu1683Phe		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.L1683F	ENST00000377833.4	37	c.5049	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427414	0.43122	.	.	ENSG00000107611	ENST00000377833	T	0.34072	1.38	6.08	4.25	0.50352	CUB (5);	0.468058	0.15922	N	0.238080	T	0.35970	0.0950	N	0.11724	0.165	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.03296	-1.1051	10	0.10377	T	0.69	.	11.8679	0.52503	0.0:0.8604:0.0:0.1396	.	1683	O60494	CUBN_HUMAN	F	1683	ENSP00000367064:L1683F	ENSP00000367064:L1683F	L	-	3	2	CUBN	17032037	1.000000	0.71417	0.997000	0.53966	0.264000	0.26372	2.493000	0.45320	0.909000	0.36697	0.655000	0.94253	TTG	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0	51	0	C	NM_001081		16992031	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	6.67	70	5	SNP	1.000	A	A	16992031	C	A	16992031	3	1	133	1	0	0	0	0	1	0	0	0	4060	593	21	3	5958	3	CUBN	10	16992031	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	11450906	16992031	118542716	250	34172											
C10orf140	387640	genome.wustl.edu	37	chr10	21805376	21805376	+	Missense_Mutation	SNP	A	A	G	1	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	atcggatgctctgcactgacActtggctggagccggagctg	7	9	14	11	2	1	1	0	1	1	0	2	4	1	4	1	4	4	4	1	4	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:21805376A>G	ENST00000449193.2	-	4	3628	c.1376T>C	c.(1375-1377)gTg>gCg	p.V459A	SKIDA1_ENST00000444772.3_Missense_Mutation_p.V380A	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	378						nucleus (GO:0005634)											CTGCACTGACACTTGGCTGGA	0.657																																																	0													16	20	19					10																	21805376		2107	4219	6326	SO:0001583	missense	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1376T>C	10.37:g.21805376A>G	ENSP00000410041:p.Val459Ala		B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.V459A	ENST00000449193.2	37	c.1376	CCDS44363.1	10	.	.	.	.	.	.	.	.	.	.	A	14.65	2.599266	0.46318	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	L	0.36672	1.1	0.53005	D	0.999967	D	0.76494	0.999	D	0.78314	0.991	T	0.70332	-0.4901	9	0.66056	D	0.02	-17.9769	14.5124	0.67797	1.0:0.0:0.0:0.0	.	459	E9PAX1	.	A	459;380	.	ENSP00000442432:V380A	V	-	2	0	C10orf140	21845382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.364000	0.90105	1.919000	0.55581	0.454000	0.30748	GTG	SKIDA1	-	NULL	ENSG00000180592		0.657	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	-	0	65	0	A	NM_207371		21805376	-1	tier1	-	no_errors	ENST00000449193	ensembl	human	known	74_37	missense	16.33	82	16	SNP	1.000	G	G	21805376	A	G	21805376	3	3	133	1	0	0	0	0	1	0	0	0	1600	159	6	4	1354	4	C10orf140	10	21805376	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	4813345	21805376	113729371	251	34173											
CCDC7	79741	genome.wustl.edu	37	chr10	32856778	32856778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcactggtttcagattcaGgtggacaaaggacaagtgat	14	10	11	6	0	3	2	3	1	0	1	3	4	3	4	0	4	0	1	0	4	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:32856778G>A	ENST00000362006.5	+	16	1921	c.1378G>A	c.(1378-1380)Ggt>Agt	p.G460S	C10orf68_ENST00000375028.3_De_novo_Start_OutOfFrame|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_De_novo_Start_InFrame|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460S	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	460								p.G460S(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTCAGATTCAGGTGGACAAAG	0.328																																																	1	Substitution - Missense(1)	prostate(1)											77	77	77					10																	32856778		2203	4299	6502	SO:0001583	missense	0			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1378G>A	10.37:g.32856778G>A	ENSP00000355078:p.Gly460Ser		Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	NULL	p.G460S	ENST00000362006.5	37	c.1378	CCDS7173.1	10	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279800	0.40294	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	T;T;T	0.59906	1.14;1.14;0.23	4.3	-0.844	0.10741	.	.	.	.	.	T	0.35008	0.0917	N	0.24115	0.695	0.09310	N	1	P	0.46784	0.884	B	0.40940	0.344	T	0.18840	-1.0324	9	0.26408	T	0.33	-4.4983	3.2962	0.06966	0.4132:0.0:0.4031:0.1837	.	460	Q96M83	CCDC7_HUMAN	S	460;460;129	ENSP00000277657:G460S;ENSP00000355078:G460S;ENSP00000401923:G129S	ENSP00000277657:G460S	G	+	1	0	CCDC7	32896784	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-0.733000	0.04898	-0.057000	0.13199	0.650000	0.86243	GGT	CCDC7	-	NULL	ENSG00000216937		0.328	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1	-	0	16	0	G	NM_145023		32856778	1	tier1	-	no_errors	ENST00000277657	ensembl	human	known	74_37	missense	26.32	14	5	SNP	0.001	A	A	32856778	G	A	32856778	3	1	133	1	0	0	0	0	1	0	0	0	2849	1000	35	3	1436	3	CCDC7	10	32856778	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	11051402	32856778	102677969	252	34174											
PARD3	56288	genome.wustl.edu	37	chr10	34408625	34408625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgcatctgcacctccacgGacaccgagtgtcgcccgctc	6	7	10	18	4	1	0	0	0	1	0	4	2	2	1	4	1	2	4	4	1	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:34408625G>A	ENST00000374789.3	-	24	3918	c.3593C>T	c.(3592-3594)tCc>tTc	p.S1198F	PARD3_ENST00000545260.1_Missense_Mutation_p.S1108F|PARD3_ENST00000545693.1_Missense_Mutation_p.S1182F|PARD3_ENST00000350537.4_Missense_Mutation_p.S1152F|PARD3_ENST00000374788.3_Missense_Mutation_p.S1195F|PARD3_ENST00000374794.3_Missense_Mutation_p.S1086F|PARD3_ENST00000346874.4_Missense_Mutation_p.S1161F|PARD3_ENST00000374790.3_Missense_Mutation_p.S1138F	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1198					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CACCTCCACGGACACCGAGTG	0.617																																																	0													25	23	23					10																	34408625		2202	4298	6500	SO:0001583	missense	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3593C>T	10.37:g.34408625G>A	ENSP00000363921:p.Ser1198Phe		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S1198F	ENST00000374789.3	37	c.3593	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.173375	0.94807	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.19532	2.28;2.19;2.36;2.35;2.19;2.14;2.2;2.29	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.999;0.999;0.999;0.998;0.999;0.999	D;D;D;D;D;D;D;D	0.87578	0.966;0.992;0.998;0.998;0.998;0.966;0.998;0.996	T	0.19451	-1.0305	10	0.59425	D	0.04	.	19.172	0.93581	0.0:0.0:1.0:0.0	.	1086;1108;1115;1152;1182;1161;1195;1198	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	F	1182;1108;1198;1195;1161;1086;1152;1138	ENSP00000443147:S1182F;ENSP00000440857:S1108F;ENSP00000363921:S1198F;ENSP00000363920:S1195F;ENSP00000340591:S1161F;ENSP00000363926:S1086F;ENSP00000311986:S1152F;ENSP00000363922:S1138F	ENSP00000340591:S1161F	S	-	2	0	PARD3	34448631	1.000000	0.71417	0.974000	0.42286	0.922000	0.55478	9.467000	0.97671	2.541000	0.85698	0.650000	0.86243	TCC	PARD3	-	NULL	ENSG00000148498		0.617	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	-	0	63	0	G	NM_019619		34408625	-1	tier1	-	no_errors	ENST00000374789	ensembl	human	known	74_37	missense	15.85	69	13	SNP	1.000	A	A	34408625	G	A	34408625	3	1	133	1	0	0	0	0	1	0	0	0	11482	1174	41	3	485	3	PARD3	10	34408625	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1551847	34408625	101126122	253	34175											
CCNY	219771	genome.wustl.edu	37	chr10	35819102	35819102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacccagagcagaagcaGatttaccggttcgttcggac	12	7	10	12	3	0	3	0	0	0	3	2	4	0	4	2	2	4	4	2	2	3	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:35819102G>T	ENST00000374704.4	+	7	690	c.510G>T	c.(508-510)caG>caT	p.Q170H	CCNY_ENST00000339497.5_Missense_Mutation_p.Q145H|CCNY_ENST00000265375.9_Missense_Mutation_p.Q116H|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Missense_Mutation_p.Q116H	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	170	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						AGCAGAAGCAGATTTACCGGT	0.512																																																	0													129	93	105					10																	35819102		2203	4300	6503	SO:0001583	missense	0			AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"chromosome 10 open reading frame 9"	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.510G>T	10.37:g.35819102G>T	ENSP00000363836:p.Gln170His		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y	p.Q170H	ENST00000374704.4	37	c.510	CCDS7189.1	10	.	.	.	.	.	.	.	.	.	.	G	9.726	1.160893	0.21538	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.91	4.05	0.47172	Cyclin, N-terminal (1);Cyclin-like (2);	0.049357	0.85682	D	0.000000	T	0.05502	0.0145	N	0.11927	0.2	0.50467	D	0.999873	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.002	T	0.36237	-0.9756	10	0.14656	T	0.56	-1.5679	8.6576	0.34073	0.1311:0.1239:0.745:0.0	.	37;145;170	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	H	116;170;170;145;116;37	ENSP00000363838:Q116H;ENSP00000363836:Q170H;ENSP00000344275:Q145H;ENSP00000265375:Q116H	ENSP00000265375:Q116H	Q	+	3	2	CCNY	35859108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.204000	0.42761	0.819000	0.34492	0.655000	0.94253	CAG	CCNY	-	pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,pirsf_Cyclin_Y	ENSG00000108100		0.512	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNY	HGNC	protein_coding	OTTHUMT00000047568.2	-	0	45	0	G	NM_181698		35819102	1	tier1	-	no_errors	ENST00000374704	ensembl	human	known	74_37	missense	21.21	51	14	SNP	1.000	T	T	35819102	G	T	35819102	3	4	133	1	0	0	0	0	1	0	0	0	2943	933	33	3	536	3	CCNY	10	35819102	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1410477	35819102	99715645	254	34176											
ZNF33A	7581	genome.wustl.edu	37	chr10	38343809	38343809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtgattataatgaatttGggagaactttgtgtgatagt	12	16	11	2	0	0	4	0	3	0	1	0	5	0	4	0	1	1	0	0	1	5	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:38343809G>C	ENST00000458705.2	+	5	912	c.754G>C	c.(754-756)Ggg>Cgg	p.G252R	ZNF33A_ENST00000307441.9_Missense_Mutation_p.G252R|ZNF33A_ENST00000432900.2_Missense_Mutation_p.G259R|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.G253R			Q06730	ZN33A_HUMAN	zinc finger protein 33A	252					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						TAATGAATTTGGGAGAACTTT	0.373																																																	0													75	70	72					10																	38343809		2203	4300	6503	SO:0001583	missense	0			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.754G>C	10.37:g.38343809G>C	ENSP00000387713:p.Gly252Arg		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G259R	ENST00000458705.2	37	c.775	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960407	0.34565	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.05258	3.48;3.48;3.47;3.47	2.26	0.0779	0.14410	.	2.335370	0.01958	N	0.043126	T	0.08670	0.0215	L	0.46157	1.445	0.22354	N	0.999173	P;P;B	0.49358	0.923;0.87;0.255	B;B;B	0.43103	0.408;0.36;0.119	T	0.26189	-1.0110	10	0.66056	D	0.02	.	4.8087	0.13333	0.1461:0.2205:0.6334:0.0	.	259;252;253	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	R	253;259;252;252	ENSP00000363747:G253R;ENSP00000402467:G259R;ENSP00000387713:G252R;ENSP00000304268:G252R	ENSP00000304268:G252R	G	+	1	0	ZNF33A	38383815	0.931000	0.31567	0.000000	0.03702	0.179000	0.23085	2.327000	0.43858	-0.134000	0.11516	0.460000	0.39030	GGG	ZNF33A	-	NULL	ENSG00000189180		0.373	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	-	0	39	0	G	NM_006974		38343809	1	tier1	-	no_errors	ENST00000432900	ensembl	human	known	74_37	missense	15.79	64	12	SNP	0.681	C	C	38343809	G	C	38343809	3	2	133	1	0	0	0	0	1	0	0	0	17902	1348	47	5	771	5	ZNF33A	10	38343809	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2524707	38343809	97190938	255	34177											
OGDHL	55753	genome.wustl.edu	37	chr10	50953480	50953480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgtggatctgcttgtaCatgagcggctgggtgaacat	7	13	14	7	1	2	2	0	2	2	0	2	3	2	3	0	3	4	3	0	3	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:50953480C>A	ENST00000374103.4	-	12	1624	c.1539G>T	c.(1537-1539)atG>atT	p.M513I	OGDHL_ENST00000419399.1_Missense_Mutation_p.M456I|OGDHL_ENST00000432695.1_Missense_Mutation_p.M304I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	513					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCTGCTTGTACATGAGCGGCT	0.607																																																	0													110	97	101					10																	50953480		2203	4300	6503	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1539G>T	10.37:g.50953480C>A	ENSP00000363216:p.Met513Ile		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.M513I	ENST00000374103.4	37	c.1539	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.216801	0.95104	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;D	0.95756	2.49;2.49;-3.8	5.3	5.3	0.74995	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	H	0.95504	3.68	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	0.99449	1.0940	10	0.87932	D	0	.	19.3156	0.94211	0.0:1.0:0.0:0.0	.	456;304;513	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	I	513;456;304	ENSP00000363216:M513I;ENSP00000401356:M456I;ENSP00000390240:M304I	ENSP00000363216:M513I	M	-	3	0	OGDHL	50623486	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.734000	0.84928	2.647000	0.89833	0.650000	0.86243	ATG	OGDHL	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000197444		0.607	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	-	0	54	0	C	NM_018245		50953480	-1	tier1	-	no_errors	ENST00000374103	ensembl	human	known	74_37	missense	19.67	49	12	SNP	1.000	A	A	50953480	C	A	50953480	3	1	133	1	0	0	0	0	1	0	0	0	10879	478	17	3	1541	3	OGDHL	10	50953480	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	12609671	50953480	84581267	256	34178											
HKDC1	80201	genome.wustl.edu	37	chr10	71008284	71008284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagggggccgccatggtgaCcgcggtggcctcccgcgtgc	4	5	17	15	5	0	1	0	1	0	0	1	1	1	1	5	5	1	0	5	5	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:71008284C>A	ENST00000354624.5	+	10	1503	c.1370C>A	c.(1369-1371)aCc>aAc	p.T457N	HKDC1_ENST00000395086.2_Missense_Mutation_p.T457N|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	457	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCCATGGTGACCGCGGTGGCC	0.642																																																	0													39	40	40					10																	71008284		2203	4300	6503	SO:0001583	missense	0				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.1370C>A	10.37:g.71008284C>A	ENSP00000346643:p.Thr457Asn		B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.T457N	ENST00000354624.5	37	c.1370	CCDS7288.1	10	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966395	0.92855	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	T;T	0.12465	2.68;2.68	4.97	4.97	0.65823	Hexokinase, C-terminal (1);	0.052599	0.64402	D	0.000001	T	0.47801	0.1465	M	0.91818	3.245	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.59369	-0.7467	10	0.66056	D	0.02	-15.1498	18.3972	0.90502	0.0:1.0:0.0:0.0	.	457	Q2TB90	HKDC1_HUMAN	N	457	ENSP00000346643:T457N;ENSP00000378521:T457N	ENSP00000346643:T457N	T	+	2	0	HKDC1	70678290	1.000000	0.71417	0.954000	0.39281	0.946000	0.59487	7.615000	0.83006	2.583000	0.87209	0.462000	0.41574	ACC	HKDC1	-	pfam_Hexokinase_C	ENSG00000156510		0.642	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	-	0	57	0	C	NM_025130		71008284	1	tier1	-	no_errors	ENST00000354624	ensembl	human	known	74_37	missense	11.43	62	8	SNP	1.000	A	A	71008284	C	A	71008284	3	1	133	1	0	0	0	0	1	0	0	0	7220	507	18	3	1408	3	HKDC1	10	71008284	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	20054804	71008284	64526463	257	34179											
CDH23	64072	genome.wustl.edu	37	chr10	73571509	73571509	+	Splice_Site	SNP	T	T	A	0	1	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	gccattgtggctggctcagcTggtaagtgagggccatagtg	7	10	16	8	0	1	1	1	1	0	0	1	1	1	1	2	4	1	4	2	4	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:73571509T>A	ENST00000224721.6	+	64	9338	c.9333T>A	c.(9331-9333)gcT>gcA	p.A3111A	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Splice_Site_p.A866A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3106					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						CTGGCTCAGCTGGTAAGTGAG	0.637																																																	0													17	20	19					10																	73571509		1979	4143	6122	SO:0001630	splice_region_variant	0			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.9334+1T>A	10.37:g.73571509T>A			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A866	ENST00000224721.6	37	c.2598		10																																																																																			CDH23	-	NULL	ENSG00000107736		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	-	0	59	0	T	NM_052836	Silent	73571509	1	tier1	-	no_errors	ENST00000398788	ensembl	human	known	74_37	silent	10.53	49	6	SNP	0.953	A	A	73571509	T	A	73571509	5	1	133	1	0	0	0	0	0	0	1	0	3115	1594	55	5	9917	5	CDH23	10	73571509	Splice_Site	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	2563225	73571509	61963238	258	34180											
LDB3	11155	genome.wustl.edu	37	chr10	88466294	88466294	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccgcctcatcagcaccccTattgagcatgcgccggtgtg	6	9	10	16	3	2	1	2	1	0	0	3	1	3	1	5	1	3	2	5	1	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:88466294T>A	ENST00000361373.4	+	7	924	c.903T>A	c.(901-903)ccT>ccA	p.P301P	LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000458213.2_Intron	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						TCAGCACCCCTATTGAGCATG	0.662																																																	0													97	110	106					10																	88466294		2203	4299	6502	SO:0001819	synonymous_variant	0			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.903T>A	10.37:g.88466294T>A				Silent	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.P301	ENST00000361373.4	37	c.903	CCDS7377.1	10																																																																																			LDB3	-	NULL	ENSG00000122367		0.662	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	-	0	98	0	T			88466294	1	tier1	-	no_errors	ENST00000361373	ensembl	human	known	74_37	silent	5.13	148	8	SNP	0.989	A	A	88466294	T	A	88466294	2	1	133	1	0	0	0	0	0	0	0	1	8725	1509	53	5		5	LDB3	10	88466294	Silent	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	14894785	88466294	47068453	259	34181											
ATAD1	84896	genome.wustl.edu	37	chr10	89514503	89514503	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgcatcctttgatttcttcaTcttttcaattgcccgatgca	7	18	5	11	1	4	1	2	1	2	0	5	2	5	1	2	0	3	2	2	0	1	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:89514503T>C	ENST00000308448.7	-	10	1405	c.1027A>G	c.(1027-1029)Atg>Gtg	p.M343V	ATAD1_ENST00000328142.3_Missense_Mutation_p.M343V|ATAD1_ENST00000400215.3_Missense_Mutation_p.M255V	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	343					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GATTTCTTCATCTTTTCAATT	0.358																																																	0													99	86	90					10																	89514503		2203	4300	6503	SO:0001583	missense	0			AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"ATPases / AAA-type"	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.1027A>G	10.37:g.89514503T>C	ENSP00000339017:p.Met343Val		D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.M343V	ENST00000308448.7	37	c.1027	CCDS7386.1	10	.	.	.	.	.	.	.	.	.	.	T	14.37	2.514445	0.44763	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215	D;D;D	0.97791	-4.54;-4.54;-4.54	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	N	0.00991	-1.07	0.80722	D	1	B;B	0.17852	0.024;0.011	B;B	0.15870	0.014;0.01	D	0.86843	0.2018	10	0.02654	T	1	-17.773	15.6558	0.77133	0.0:0.0:0.0:1.0	.	255;343	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	V	343;343;255	ENSP00000339017:M343V;ENSP00000339016:M343V;ENSP00000412968:M255V	ENSP00000339017:M343V	M	-	1	0	ATAD1	89504483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.206000	0.65192	2.153000	0.67306	0.460000	0.39030	ATG	ATAD1	-	superfamily_P-loop_NTPase	ENSG00000138138		0.358	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD1	HGNC	protein_coding	OTTHUMT00000049235.1	-	0	73	0	T	NM_032810		89514503	-1	tier1	-	no_errors	ENST00000308448	ensembl	human	known	74_37	missense	7.14	78	6	SNP	1.000	C	C	89514503	T	C	89514503	3	2	133	1	0	0	0	0	1	0	0	0	1071	1435	50	4	62	4	ATAD1	10	89514503	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	1048209	89514503	46020244	260	34182											
PDE6C	5146	genome.wustl.edu	37	chr10	95399842	95399842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagaaagaggacttgccaGacccacgctcagcagaactg	15	4	10	12	1	1	4	1	0	0	4	1	5	1	5	2	1	4	2	2	1	3	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:95399842G>A	ENST00000371447.3	+	12	1636	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	500					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)	GGACTTGCCAGACCCACGCTC	0.423																																																	0													120	102	108					10																	95399842		2203	4300	6503	SO:0001583	missense	0			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.1498G>A	10.37:g.95399842G>A	ENSP00000360502:p.Asp500Asn		A6NCR6|Q5VY29	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.D500N	ENST00000371447.3	37	c.1498	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624845	0.28889	.	.	ENSG00000095464	ENST00000371447	T	0.78003	-1.14	4.99	4.0	0.46444	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.294568	0.36101	N	0.002798	T	0.69223	0.3087	L	0.45051	1.395	0.47094	D	0.999319	B	0.14012	0.009	B	0.09377	0.004	T	0.64601	-0.6369	10	0.28530	T	0.3	.	13.9508	0.64116	0.0845:0.0:0.9155:0.0	.	500	P51160	PDE6C_HUMAN	N	500	ENSP00000360502:D500N	ENSP00000360502:D500N	D	+	1	0	PDE6C	95389832	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	3.689000	0.54706	2.595000	0.87683	0.563000	0.77884	GAC	PDE6C	-	NULL	ENSG00000095464		0.423	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1	-	0	76	0	G	NM_006204		95399842	1	tier1	-	no_errors	ENST00000371447	ensembl	human	known	74_37	missense	6.25	90	6	SNP	0.997	A	A	95399842	G	A	95399842	3	1	133	1	0	0	0	0	1	0	0	0	11686	942	33	3	1544	3	PDE6C	10	95399842	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5885339	95399842	40134905	261	34183											
ANKRD2	26287	genome.wustl.edu	37	chr10	99338020	99338020	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagcgcgtgcgcaagacGtccctggacctgcggcggga	8	4	16	13	6	0	2	0	0	0	2	1	4	1	4	2	3	3	1	2	3	2	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:99338020G>T	ENST00000307518.5	+	3	561	c.294G>T	c.(292-294)acG>acT	p.T98T	ANKRD2_ENST00000298808.5_Silent_p.T98T|ANKRD2_ENST00000455090.1_Silent_p.T71T|ANKRD2_ENST00000370655.1_Silent_p.T71T			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	98	May mediate interaction with PML, p53/TP53 and YBX1.				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)		TGCGCAAGACGTCCCTGGACC	0.657																																																	0													24	25	25					10																	99338020		2191	4287	6478	SO:0001819	synonymous_variant	0			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.294G>T	10.37:g.99338020G>T			Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T98	ENST00000307518.5	37	c.294	CCDS7466.1	10																																																																																			ANKRD2	-	NULL	ENSG00000165887		0.657	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD2	HGNC	protein_coding		-	0	51	0	G			99338020	1	tier1	-	no_errors	ENST00000307518	ensembl	human	known	74_37	silent	7.81	59	5	SNP	0.796	T	T	99338020	G	T	99338020	2	4	133	1	0	0	0	0	0	0	0	1	647	1132	40	2		2	ANKRD2	10	99338020	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3938178	99338020	36196727	262	34184											
CHUK	1147	genome.wustl.edu	37	chr10	101954272	101954272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctctgtgctgtcactgtagGagtgatctataaaagacatc	11	13	9	8	0	3	2	1	1	2	1	5	3	3	3	0	1	1	2	0	1	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:101954272G>T	ENST00000370397.7	-	17	1822	c.1736C>A	c.(1735-1737)tCc>tAc	p.S579Y	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	579					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)	GTCACTGTAGGAGTGATCTAT	0.408																																					Ovarian(159;52 1904 10536 35305 37148)												0													86	71	76					10																	101954272		2203	4300	6503	SO:0001583	missense	0			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.1736C>A	10.37:g.101954272G>T	ENSP00000359424:p.Ser579Tyr		O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S579Y	ENST00000370397.7	37	c.1736	CCDS7488.1	10	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125363	0.56721	.	.	ENSG00000213341	ENST00000370397	T	0.22945	1.93	5.8	2.92	0.33932	.	0.399275	0.27759	N	0.017971	T	0.23410	0.0566	L	0.40543	1.245	0.24078	N	0.995959	P	0.52842	0.956	P	0.44732	0.459	T	0.06881	-1.0802	10	0.66056	D	0.02	0.0485	10.3737	0.44068	0.2171:0.0:0.7829:0.0	.	579	O15111	IKKA_HUMAN	Y	579	ENSP00000359424:S579Y	ENSP00000359424:S579Y	S	-	2	0	CHUK	101944262	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	2.126000	0.42026	0.358000	0.24211	0.655000	0.94253	TCC	CHUK	-	NULL	ENSG00000213341		0.408	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1		0	20	0	G	NM_001278		101954272	-1			no_errors	ENST00000370397	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.987	T	T	101954272	G	T	101954272	3	4	133	1	0	0	0	0	1	0	0	0	3423	1174	41	3	521	3	CHUK	10	101954272	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2616252	101954272	33580475	263	34185											
SFXN3	81855	genome.wustl.edu	37	chr10	102799314	102799314	+	Missense_Mutation	SNP	A	A	C	1	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	tgagcaaaaccccagcgttgAagtggtctactacaacaagg	14	7	10	10	1	1	2	0	2	1	0	1	2	1	2	2	2	6	2	2	2	7	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr10:102799314A>C	ENST00000224807.5	+	12	1406	c.950A>C	c.(949-951)gAa>gCa	p.E317A	SFXN3_ENST00000466982.1_3'UTR|SFXN3_ENST00000393459.1_Missense_Mutation_p.E313A	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	317					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCAGCGTTGAAGTGGTCTAC	0.532																																																	0													180	156	165					10																	102799314		2203	4300	6503	SO:0001583	missense	0			AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"Sideroflexins"	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.950A>C	10.37:g.102799314A>C	ENSP00000224807:p.Glu317Ala		Q8NCJ0|Q9NTP4	Missense_Mutation	SNP	pfam_Mtc,tigrfam_Mtc	p.E317A	ENST00000224807.5	37	c.950	CCDS7508.2	10	.	.	.	.	.	.	.	.	.	.	A	9.086	1.000451	0.19121	.	.	ENSG00000107819	ENST00000393459;ENST00000224807	T;T	0.32272	1.46;1.46	5.31	4.1	0.47936	.	0.516507	0.23265	N	0.050100	T	0.23054	0.0557	L	0.33624	1.015	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.12837	0.008;0.003;0.003	T	0.10917	-1.0609	10	0.34782	T	0.22	-7.5421	11.1923	0.48691	0.8463:0.1537:0.0:0.0	.	321;317;317	B4DRS6;A6NCZ6;Q9BWM7	.;.;SFXN3_HUMAN	A	313;317	ENSP00000377103:E313A;ENSP00000224807:E317A	ENSP00000224807:E317A	E	+	2	0	SFXN3	102789304	0.401000	0.25303	0.483000	0.27378	0.432000	0.31715	2.785000	0.47782	2.008000	0.58898	0.459000	0.35465	GAA	SFXN3	-	pfam_Mtc,tigrfam_Mtc	ENSG00000107819		0.532	SFXN3-201	KNOWN	basic|CCDS	protein_coding	SFXN3	HGNC	protein_coding		-	0	71	0	A	NM_030971		102799314	1	tier1	-	no_errors	ENST00000224807	ensembl	human	known	74_37	missense	8.11	68	6	SNP	0.006	C	C	102799314	A	C	102799314	3	2	133	1	0	0	0	0	1	0	0	0	14241	246	9	4	992	4	SFXN3	10	102799314	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	845042	102799314	32735433	264	34186											
MUC5B	727897	genome.wustl.edu	37	chr11	1263506	1263506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtttgacgtggacttccCaacctcaggggttgcaggcg	6	10	15	10	2	1	1	1	1	0	0	2	2	2	2	2	5	2	3	2	5	1	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:1263506C>A	ENST00000529681.1	+	31	5454	c.5396C>A	c.(5395-5397)cCa>cAa	p.P1799Q	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P1802Q	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1799	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)		GTGGACTTCCCAACCTCAGGG	0.582																																																	0													60	69	66					11																	1263506		2055	4193	6248	SO:0001583	missense	0			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.5396C>A	11.37:g.1263506C>A	ENSP00000436812:p.Pro1799Gln		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1802Q	ENST00000529681.1	37	c.5405	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	12.54	1.970029	0.34754	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.26660	1.72;1.72	4.32	4.32	0.51571	.	.	.	.	.	T	0.64382	0.2593	H	0.95645	3.7	0.32738	N	0.508019	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81125	-0.1075	9	0.87932	D	0	.	16.8169	0.85736	0.0:1.0:0.0:0.0	.	2492;1802	A7Y9J9;E9PBJ0	.;.	Q	1799;1802;1800;1869	ENSP00000436812:P1799Q;ENSP00000415793:P1802Q	ENSP00000343037:P1800Q	P	+	2	0	MUC5B	1220082	0.992000	0.36948	0.022000	0.16811	0.768000	0.43524	5.351000	0.66022	1.968000	0.57251	0.306000	0.20318	CCA	MUC5B	-	NULL	ENSG00000117983		0.582	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2		0	54	0	C	XM_001126093		1263506	1			no_errors	ENST00000447027	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.932	A	A	1263506	C	A	1263506	3	1	133	1	0	0	0	0	1	0	0	0	10017	594	21	3	5527	3	MUC5B	11	1263506	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		1263506	133743010	265	34187											
MUC5B	727897	genome.wustl.edu	37	chr11	1272626	1272626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatccacggccaccctgtCctccaccccagggaccacct	7	6	8	20	1	0	0	0	0	0	0	3	2	3	2	9	3	0	0	9	3	0	0	rs375836524		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:1272626C>A	ENST00000529681.1	+	31	14574	c.14516C>A	c.(14515-14517)tCc>tAc	p.S4839Y	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S4842Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4839	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)		GCCACCCTGTCCTCCACCCCA	0.647																																																	0								C	TYR/SER	0,4288		0,0,2144	117	142	133		14516	-5.3	0	11		133	1,8459		0,1,4229	no	missense	MUC5B	NM_002458.2	144	0,1,6373	AA,AC,CC		0.0118,0.0,0.0078	benign	4839/5763	1272626	1,12747	2144	4230	6374	SO:0001583	missense	0			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.14516C>A	11.37:g.1272626C>A	ENSP00000436812:p.Ser4839Tyr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S4842Y	ENST00000529681.1	37	c.14525	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	3.452	-0.111844	0.06881	0.0	1.18E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.24350	1.86;2.04	2.64	-5.28	0.02755	.	.	.	.	.	T	0.13243	0.0321	L	0.29908	0.895	0.09310	N	1	B;B	0.24186	0.099;0.029	B;B	0.19666	0.026;0.018	T	0.21381	-1.0247	9	0.87932	D	0	.	0.9823	0.01439	0.2914:0.3664:0.1436:0.1986	.	5161;4842	A7Y9J9;E9PBJ0	.;.	Y	4839;4842;4783;4538	ENSP00000436812:S4839Y;ENSP00000415793:S4842Y	ENSP00000343037:S4783Y	S	+	2	0	MUC5B	1229202	0.025000	0.19082	0.000000	0.03702	0.004000	0.04260	3.943000	0.56621	-2.350000	0.00617	-1.549000	0.00901	TCC	MUC5B	-	NULL	ENSG00000117983		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	106	0	C	XM_001126093		1272626	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	8.70	147	14	SNP	0.002	A	A	1272626	C	A	1272626	3	1	133	1	0	0	0	0	1	0	0	0	10017	855	30	3	14647	3	MUC5B	11	1272626	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	9120	1272626	133733890	266	34188											
TNNT3	7140	genome.wustl.edu	37	chr11	1955826	1955826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccgggaaatgaagaagaaGattctggctgagagacgcaa	15	5	14	7	2	1	6	0	2	1	4	1	8	1	7	1	2	0	2	1	2	5	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:1955826G>A	ENST00000397301.1	+	14	572	c.564G>A	c.(562-564)aaG>aaA	p.K188K	TNNT3_ENST00000381561.4_Silent_p.K180K|TNNT3_ENST00000381589.3_Silent_p.K175K|TNNT3_ENST00000397304.2_Silent_p.K158K|TNNT3_ENST00000381549.3_Silent_p.K169K|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381558.1_Silent_p.K169K|TNNT3_ENST00000381579.3_Silent_p.K169K|TNNT3_ENST00000446240.1_Silent_p.K158K|TNNT3_ENST00000278317.6_Silent_p.K177K|TNNT3_ENST00000360603.3_Silent_p.K171K|TNNT3_ENST00000381548.3_Silent_p.K179K			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	188					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TGAAGAAGAAGATTCTGGCTG	0.602																																																	0													32	31	31					11																	1955826		2199	4295	6494	SO:0001819	synonymous_variant	0			M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"troponin-T3, skeletal, fast"	600692	"troponin T3, skeletal, fast"			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.564G>A	11.37:g.1955826G>A			A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Silent	SNP	pfam_Troponin	p.K188	ENST00000397301.1	37	c.564		11																																																																																			TNNT3	-	pfam_Troponin	ENSG00000130595		0.602	TNNT3-010	KNOWN	basic	protein_coding	TNNT3	HGNC	protein_coding	OTTHUMT00000142920.3		0	41	0	G	NM_006757		1955826	1			no_errors	ENST00000397301	ensembl	human	known	74_37	silent	7.32	37	3	SNP	1.000	A	A	1955826	G	A	1955826	2	1	133	1	0	0	0	0	0	0	0	1	16379	933	33	3		3	TNNT3	11	1955826	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	683200	1955826	133050690	267	34189											
OR51I1	390063	genome.wustl.edu	37	chr11	5462136	5462136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataggtaaaaatgatcacCaagagcccataaatgttgtt	16	10	7	8	0	1	2	1	1	0	1	1	2	1	2	3	1	1	3	3	1	7	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:5462136C>G	ENST00000380211.1	-	1	608	c.609G>C	c.(607-609)ttG>ttC	p.L203F	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	203					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAATGATCACCAAGAGCCCAT	0.448																																																	0													62	61	62					11																	5462136		2201	4297	6498	SO:0001583	missense	0			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"GPCR / Class A : Olfactory receptors"	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.609G>C	11.37:g.5462136C>G	ENSP00000369559:p.Leu203Phe		B9EKW2|Q6IF33	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L203F	ENST00000380211.1	37	c.609	CCDS31382.1	11	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.428451	0.00184	.	.	ENSG00000167359	ENST00000321307;ENST00000380211	T	0.00058	8.79	5.47	-3.92	0.04155	GPCR, rhodopsin-like superfamily (1);	0.218942	0.32655	N	0.005819	T	0.00039	0.0001	N	0.00246	-1.78	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.42378	-0.9455	10	0.02654	T	1	.	7.9289	0.29891	0.5039:0.1128:0.3833:0.0	.	203	Q9H343	O51I1_HUMAN	F	200;203	ENSP00000369559:L203F	ENSP00000439622:L200F	L	-	3	2	OR51I1	5418712	0.000000	0.05858	0.925000	0.36789	0.121000	0.20230	-1.361000	0.02597	-0.790000	0.04492	-1.582000	0.00854	TTG	OR51I1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000167359		0.448	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I1	HGNC	protein_coding	OTTHUMT00000143399.1	-	0	30	0	C	NM_001005288		5462136	-1	tier1	-	no_errors	ENST00000380211	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.043	G	G	5462136	C	G	5462136	3	3	133	1	0	0	0	0	1	0	0	0	11139	593	21	5	339	5	OR51I1	11	5462136	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3506310	5462136	129544380	268	34190											
TRIM3	10612	genome.wustl.edu	37	chr11	6477889	6477889	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagctcagcgctgcctgtgCgcaccaaccgcccgtccttg	5	7	11	18	4	1	0	1	0	0	0	2	0	2	0	5	0	5	4	5	0	1	1	rs373824947		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:6477889C>G	ENST00000525074.1	-	6	1461	c.1067G>C	c.(1066-1068)cGc>cCc	p.R356P	TRIM3_ENST00000345851.3_Missense_Mutation_p.R356P|TRIM3_ENST00000537602.1_Missense_Mutation_p.R278P|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000536344.1_Missense_Mutation_p.R237P|TRIM3_ENST00000359518.3_Missense_Mutation_p.R356P	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	356					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)		GCTGCCTGTGCGCACCAACCG	0.657																																					Melanoma(6;5 510 1540 25169 29084)												0													39	41	40					11																	6477889		2200	4293	6493	SO:0001583	missense	0			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.1067G>C	11.37:g.6477889C>G	ENSP00000433102:p.Arg356Pro		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.R356P	ENST00000525074.1	37	c.1067	CCDS7764.1	11	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205946	0.58234	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.27	5.27	0.74061	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.102948	0.64402	D	0.000004	D	0.85588	0.5731	L	0.49778	1.585	0.38026	D	0.935016	P;P;P	0.50617	0.863;0.937;0.888	P;P;P	0.60609	0.805;0.826;0.877	D	0.84381	0.0549	10	0.28530	T	0.3	-19.3503	11.0334	0.47787	0.0:0.9136:0.0:0.0864	.	237;237;356	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	P	356;356;356;356;345;278;356;237	ENSP00000433102:R356P;ENSP00000340797:R356P;ENSP00000441091:R278P;ENSP00000352508:R356P;ENSP00000445460:R237P	ENSP00000337094:R345P	R	-	2	0	TRIM3	6434465	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	0.981000	0.29526	2.472000	0.83506	0.563000	0.77884	CGC	TRIM3	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000110171		0.657	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM3	HGNC	protein_coding	OTTHUMT00000384224.2	-	0	45	0	C	NM_006458		6477889	-1	tier1	-	no_errors	ENST00000345851	ensembl	human	known	74_37	missense	18.97	47	11	SNP	1.000	G	G	6477889	C	G	6477889	3	3	133	1	0	0	0	0	1	0	0	0	16552	768	27	5	1195	5	TRIM3	11	6477889	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1015753	6477889	128528627	269	34191											
OR2D3	120775	genome.wustl.edu	37	chr11	6942744	6942744	+	Missense_Mutation	SNP	T	T	A	0	1	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	ctgggccagtggggcactagTgtctttagtagataccagct	8	11	13	9	0	1	1	0	0	1	1	1	1	1	1	2	3	2	3	2	3	4	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:6942744T>A	ENST00000317834.3	+	1	540	c.512T>A	c.(511-513)gTg>gAg	p.V171E		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	171						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)		GGGGCACTAGTGTCTTTAGTA	0.507																																																	0													137	114	122					11																	6942744		2201	4296	6497	SO:0001583	missense	0			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.512T>A	11.37:g.6942744T>A	ENSP00000320560:p.Val171Glu		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V171E	ENST00000317834.3	37	c.512	CCDS31417.1	11	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670175	0.47677	.	.	ENSG00000178358	ENST00000317834	T	0.38560	1.13	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40385	N	0.001108	T	0.47303	0.1438	L	0.54323	1.7	0.36721	D	0.88117	D	0.52996	0.957	P	0.52598	0.703	T	0.57849	-0.7740	10	0.59425	D	0.04	-25.0442	8.6012	0.33745	0.1709:0.0:0.0:0.8291	.	171	Q8NGH3	OR2D3_HUMAN	E	171	ENSP00000320560:V171E	ENSP00000320560:V171E	V	+	2	0	OR2D3	6899320	0.000000	0.05858	0.974000	0.42286	0.776000	0.43924	-0.504000	0.06375	2.310000	0.77875	0.533000	0.62120	GTG	OR2D3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000178358		0.507	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D3	HGNC	protein_coding	OTTHUMT00000385987.1	-	0	55	0	T	NM_001004684		6942744	1	tier1	-	no_errors	ENST00000317834	ensembl	human	known	74_37	missense	13.46	45	7	SNP	0.785	A	A	6942744	T	A	6942744	3	1	133	1	0	0	0	0	1	0	0	0	11034	1696	59	5	514	5	OR2D3	11	6942744	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	464855	6942744	128063772	270	34192											
SYT9	143425	genome.wustl.edu	37	chr11	7324558	7324558	+	Missense_Mutation	SNP	A	A	T	1	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	ctccacccagacggggatccAggagaactgtgcccatggcg	9	5	13	14	2	0	2	0	0	0	2	2	4	2	3	4	4	2	0	4	4	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:7324558A>T	ENST00000318881.6	+	2	671	c.434A>T	c.(433-435)cAg>cTg	p.Q145L	SYT9_ENST00000396716.2_Missense_Mutation_p.Q113L	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	145					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)		ACGGGGATCCAGGAGAACTGT	0.602																																																	0													61	50	54					11																	7324558		2201	4296	6497	SO:0001583	missense	0			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.434A>T	11.37:g.7324558A>T	ENSP00000324419:p.Gln145Leu			Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.Q145L	ENST00000318881.6	37	c.434	CCDS7778.1	11	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525830	0.27299	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.56611	0.45;0.51	5.73	2.11	0.27256	.	0.168649	0.41605	D	0.000854	T	0.40423	0.1116	L	0.46157	1.445	0.42947	D	0.994363	B	0.09022	0.002	B	0.09377	0.004	T	0.17349	-1.0372	10	0.46703	T	0.11	.	5.8316	0.18584	0.7074:0.141:0.1516:0.0	.	145	Q86SS6	SYT9_HUMAN	L	113;145	ENSP00000379944:Q113L;ENSP00000324419:Q145L	ENSP00000324419:Q145L	Q	+	2	0	SYT9	7281134	0.989000	0.36119	0.781000	0.31783	0.176000	0.22953	2.249000	0.43169	0.101000	0.17610	0.533000	0.62120	CAG	SYT9	-	NULL	ENSG00000170743		0.602	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	-	0	58	0	A	NM_175733		7324558	1	tier1	-	no_errors	ENST00000318881	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.908	T	T	7324558	A	T	7324558	3	4	133	1	0	0	0	0	1	0	0	0	15528	188	7	5	440	5	SYT9	11	7324558	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	381814	7324558	127681958	271	34193											
MUC15	143662	genome.wustl.edu	37	chr11	26587248	26587248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttatctgagtttaagtttGcttcactttccaaagaaata	12	17	5	7	0	2	2	1	1	1	1	3	2	3	2	1	0	1	3	1	0	5	8			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:26587248G>C	ENST00000455601.2	-	2	276	c.158C>G	c.(157-159)gCa>gGa	p.A53G	ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.A80G|MUC15_ENST00000527569.1_Missense_Mutation_p.A80G|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.A80G|MUC15_ENST00000436318.2_Missense_Mutation_p.A80G|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	53					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						GTTTAAGTTTGCTTCACTTTC	0.363																																																	0													98	93	94					11																	26587248		2203	4300	6503	SO:0001583	missense	0			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.158C>G	11.37:g.26587248G>C	ENSP00000397339:p.Ala53Gly		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	NULL	p.A80G	ENST00000455601.2	37	c.239	CCDS7859.1	11	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621780	0.28889	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.25749	1.82;1.8;1.78;1.8;1.78	4.3	-4.71	0.03279	.	1.298270	0.05065	N	0.480570	T	0.17365	0.0417	L	0.38175	1.15	0.09310	N	1	P;B;B	0.38020	0.615;0.358;0.358	B;B;B	0.37144	0.242;0.154;0.154	T	0.27365	-1.0076	10	0.52906	T	0.07	-14.3462	3.9762	0.09475	0.4892:0.0:0.2266:0.2842	.	80;53;80	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	G	53;80;80;80;80	ENSP00000397339:A53G;ENSP00000416753:A80G;ENSP00000281268:A80G;ENSP00000431983:A80G;ENSP00000431945:A80G	ENSP00000281268:A80G	A	-	2	0	MUC15	26543824	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.183000	0.03079	-0.718000	0.04949	0.555000	0.69702	GCA	MUC15	-	NULL	ENSG00000169550		0.363	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1	-	0	107	0	G	NM_145650		26587248	-1	tier1	-	no_errors	ENST00000436318	ensembl	human	known	74_37	missense	5.51	120	7	SNP	0.000	C	C	26587248	G	C	26587248	3	2	133	1	0	0	0	0	1	0	0	0	10010	1319	46	5	858	5	MUC15	11	26587248	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	19262690	26587248	108419268	272	34194											
CAPRIN1	4076	genome.wustl.edu	37	chr11	34074014	34074014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcggcagcaagtcgtccgGaccgccaccgccgtcgggtt	6	5	15	15	7	0	0	0	0	0	0	3	2	1	1	5	3	2	3	5	3	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:34074014G>T	ENST00000341394.4	+	2	236	c.47G>T	c.(46-48)gGa>gTa	p.G16V	CAPRIN1_ENST00000529307.1_5'Flank|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.G16V|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.G16V|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.G16V	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	16					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)				AAGTCGTCCGGACCGCCACCG	0.716																																																	0													10	14	12					11																	34074014		1914	3899	5813	SO:0001583	missense	0			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.47G>T	11.37:g.34074014G>T	ENSP00000340329:p.Gly16Val		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	pfam_Caprin-1_C	p.G16V	ENST00000341394.4	37	c.47	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845414	0.32606	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000534825;ENST00000532820;ENST00000530820	T;T;T;T;T	0.53640	2.29;2.29;0.61;2.29;2.29	4.18	3.22	0.36961	.	5.003840	0.01366	U	0.012384	T	0.35393	0.0930	N	0.14661	0.345	0.80722	D	1	B;B	0.26775	0.099;0.159	B;B	0.23150	0.012;0.044	T	0.02053	-1.1222	10	0.22706	T	0.39	-5.8994	11.7948	0.52093	0.0:0.1784:0.8216:0.0	.	16;16	Q14444;Q14444-2	CAPR1_HUMAN;.	V	16	ENSP00000340329:G16V;ENSP00000374296:G16V;ENSP00000431373:G16V;ENSP00000434150:G16V;ENSP00000434204:G16V	ENSP00000340329:G16V	G	+	2	0	CAPRIN1	34030590	.	.	0.994000	0.49952	0.092000	0.18411	.	.	0.815000	0.34398	0.551000	0.68910	GGA	CAPRIN1	-	NULL	ENSG00000135387		0.716	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2		0	62	0	G	NM_005898		34074014	1			no_errors	ENST00000341394	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.995	T	T	34074014	G	T	34074014	3	4	133	1	0	0	0	0	1	0	0	0	2642	1174	41	3	49	3	CAPRIN1	11	34074014	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	7486766	34074014	100932502	273	34195											
API5	8539	genome.wustl.edu	37	chr11	43342370	43342370	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtttgaaatcatgcccaGattcgacgtcaagcaattaa	13	13	7	8	2	2	2	2	1	0	1	3	3	2	2	1	0	2	2	1	0	4	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:43342370G>C	ENST00000531273.1	+	3	370		c.e3-1		API5_ENST00000455725.2_Splice_Site|API5_ENST00000420461.2_Splice_Site|API5_ENST00000534600.1_Splice_Site|API5_ENST00000534695.1_Intron|API5_ENST00000378852.3_Splice_Site			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5						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						ATCATGCCCAGATTCGACGTC	0.338																																					Pancreas(1;98 122 5625 20895 49453)												0													94	99	97					11																	43342370		2203	4300	6503	SO:0001630	splice_region_variant	0			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.232-1G>C	11.37:g.43342370G>C			B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Splice_Site	SNP	-	e3-1	ENST00000531273.1	37	c.232-1	CCDS44572.1	11	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424246	0.83667	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1473	0.86769	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	API5	43298946	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.667000	0.83888	2.890000	0.99128	0.650000	0.86243	.	API5	-	-	ENSG00000166181		0.338	API5-002	KNOWN	basic|CCDS	protein_coding	API5	HGNC	protein_coding	OTTHUMT00000389545.1	-	0	160	0	G	NM_006595	Intron	43342370	1	tier1	-	no_errors	ENST00000531273	ensembl	human	known	74_37	splice_site	6.29	149	10	SNP	1.000	C	C	43342370	G	C	43342370	5	2	133	1	0	0	0	0	0	0	1	0	773	956	33	5	241	5	API5	11	43342370	Splice_Site	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	9268356	43342370	91664146	274	34196											
OR4A15	81328	genome.wustl.edu	37	chr11	55135605	55135605	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accatcatggccagccagtcCctgggttcccccatgtactt	7	10	8	16	0	1	0	1	0	0	0	3	0	3	0	6	2	2	2	6	2	1	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:55135605C>A	ENST00000314706.3	+	1	246	c.246C>A	c.(244-246)tcC>tcA	p.S82S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCAGCCAGTCCCTGGGTTCCC	0.428																																																	0													102	97	98					11																	55135605		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.246C>A	11.37:g.55135605C>A			Q6IFL4|Q96R65	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S82	ENST00000314706.3	37	c.246	CCDS31500.1	11																																																																																			OR4A15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181958		0.428	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	-	0	78	0	C	NM_001005275		55135605	1	tier1	-	no_errors	ENST00000314706	ensembl	human	known	74_37	silent	6.09	108	7	SNP	0.001	A	A	55135605	C	A	55135605	2	1	133	1	0	0	0	0	0	0	0	1	11079	610	22	3		3	OR4A15	11	55135605	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	11793235	55135605	79870911	275	34197											
OR4C15	81309	genome.wustl.edu	37	chr11	55322145	55322145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcttgggcttcctgtccttCctggatgcgtgcttctcatc	2	17	9	13	1	2	0	1	0	2	0	7	1	5	1	3	2	2	2	3	2	0	5	rs550631405		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:55322145C>T	ENST00000314644.2	+	1	363	c.363C>T	c.(361-363)ttC>ttT	p.F121F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	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(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCCTGTCCTTCCTGGATGCGT	0.473										HNSCC(20;0.049)			c|||	1	0.000199681	8e-04	0	5008	,	,		20061	0		0	False		,,,				2504	0																0													186	151	163					11																	55322145		2201	4296	6497	SO:0001819	synonymous_variant	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.363C>T	11.37:g.55322145C>T			Q6IFE2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F121	ENST00000314644.2	37	c.363	CCDS31501.1	11																																																																																			OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181939		0.473	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	-	0	82	0	C	NM_001001920		55322145	1	tier1	-	no_errors	ENST00000314644	ensembl	human	known	74_37	silent	11.97	103	14	SNP	0.000	T	T	55322145	C	T	55322145	2	4	133	1	0	0	0	0	0	0	0	1	11087	854	30	3		3	OR4C15	11	55322145	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	186540	55322145	79684371	276	34198											
OR4C6	219432	genome.wustl.edu	37	chr11	55432966	55432966	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcatttctttggtggtgtGgggatcatcctcctcactgt	5	15	12	9	0	3	0	2	0	1	0	5	2	5	1	2	4	1	1	2	4	0	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:55432966G>C	ENST00000314259.3	+	1	353	c.324G>C	c.(322-324)gtG>gtC	p.V108V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTGGTGGTGTGGGGATCATCC	0.542																																																	0													116	105	109					11																	55432966		2200	4296	6496	SO:0001819	synonymous_variant	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.324G>C	11.37:g.55432966G>C			B2RP11|Q6IFD2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V108	ENST00000314259.3	37	c.324	CCDS31506.1	11																																																																																			OR4C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181903		0.542	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1	-	0	50	0	G	NM_001004704		55432966	1	tier1	-	no_errors	ENST00000314259	ensembl	human	known	74_37	silent	11.86	52	7	SNP	0.000	C	C	55432966	G	C	55432966	2	2	133	1	0	0	0	0	0	0	0	1	11091	1335	47	5		5	OR4C6	11	55432966	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	110821	55432966	79573550	277	34199											
OR5D13	390142	genome.wustl.edu	37	chr11	55541210	55541210	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatctctttctctggttgCatcatgcaattttgttttgc	6	19	6	10	0	3	0	1	0	2	0	5	0	3	0	1	1	3	4	1	1	1	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:55541210C>A	ENST00000361760.1	+	1	297	c.297C>A	c.(295-297)tgC>tgA	p.C99*		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	99						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCTCTGGTTGCATCATGCAAT	0.413																																																	0													190	184	186					11																	55541210		2200	4296	6496	SO:0001587	stop_gained	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.297C>A	11.37:g.55541210C>A	ENSP00000354800:p.Cys99*		Q6IF68|Q6IFC9	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C99*	ENST00000361760.1	37	c.297	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689689	0.29962	.	.	ENSG00000198877	ENST00000361760	.	.	.	3.52	0.498	0.16908	.	0.000000	0.37178	U	0.002207	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9498	6.8149	0.23824	0.0:0.5804:0.0:0.4196	.	.	.	.	X	99	.	ENSP00000354800:C99X	C	+	3	2	OR5D13	55297786	0.000000	0.05858	0.007000	0.13788	0.013000	0.08279	-1.416000	0.02467	0.015000	0.14971	0.486000	0.48141	TGC	OR5D13	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000198877		0.413	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	-	0	77	0	C	NM_001001967		55541210	1	tier1	-	no_errors	ENST00000361760	ensembl	human	known	74_37	nonsense	5.22	109	6	SNP	0.968	A	A	55541210	C	A	55541210	4	1	133	1	0	0	0	0	0	1	0	0	11193	718	25	3	299	3	OR5D13	11	55541210	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	108244	55541210	79465306	278	34200											
PGA3	643834	genome.wustl.edu	37	chr11	60971723	60971723	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accctggtagatgaacagccCctggagaactacctggatgt	11	8	11	11	0	0	3	0	1	0	2	0	5	0	4	4	3	4	1	4	3	4	2	rs527696591	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:60971723C>A	ENST00000325558.6	+	2	386	c.201C>A	c.(199-201)ccC>ccA	p.P67P		NM_001079807.1	NP_001073275.1	P0DJD8	PEPA3_HUMAN	pepsinogen 3, group I (pepsinogen A)	67					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.P67P(1)		endometrium(1)|lung(1)|ovary(1)|skin(2)	5						ATGAACAGCCCCTGGAGAACT	0.602													C|||	4	0.000798722	0.003	0	5008	,	,		20048	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	ovary(1)											64	72	69					11																	60971723		1901	3872	5773	SO:0001819	synonymous_variant	0			AL832946	CCDS31574.1	11q13	2006-12-13			ENSG00000229859	ENSG00000229859	3.4.23.1		8885	protein-coding gene	gene with protein product		169710				6300126	Standard	NM_001079807		Approved		uc001nqx.3	P0DJD8	OTTHUMG00000168071	ENST00000325558.6:c.201C>A	11.37:g.60971723C>A			A8K749|B2R7D6|B7ZW75|P00790|Q7M4R0|Q8N1E3	Silent	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.P67	ENST00000325558.6	37	c.201	CCDS31574.1	11																																																																																			PGA3	-	superfamily_Peptidase_aspartic_dom	ENSG00000229859		0.602	PGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGA3	HGNC	protein_coding	OTTHUMT00000397955.2		0	132	0	C	NM_001079807		60971723	1			no_errors	ENST00000325558	ensembl	human	known	74_37	silent	5.81	146	9	SNP	0.076	A	A	60971723	C	A	60971723	2	1	133	1	0	0	0	0	0	0	0	1	11810	610	22	3		3	PGA3	11	60971723	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	5430513	60971723	74034793	279	34201											
FADS1	3992	genome.wustl.edu	37	chr11	61570536	61570536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagttgaggtgtccactGaaccagtcattgaaggcaga	12	9	13	7	0	1	4	1	3	0	1	2	5	2	5	2	3	1	2	2	3	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:61570536G>T	ENST00000350997.7	-	10	1528	c.1296C>A	c.(1294-1296)ttC>ttA	p.F432L	FADS1_ENST00000460649.1_Missense_Mutation_p.F77L|FADS1_ENST00000433932.1_Missense_Mutation_p.F291L|FADS1_ENST00000542506.1_Missense_Mutation_p.F291L|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000536991.1_Missense_Mutation_p.F123L	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	375					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTGTCCACTGAACCAGTCAT	0.552																																																	0													114	115	114					11																	61570536		2201	4299	6500	SO:0001583	missense	0				CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"Fatty acid desaturases"	3574	protein-coding gene	gene with protein product	"delta-5 desaturase"	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1296C>A	11.37:g.61570536G>T	ENSP00000322229:p.Phe432Leu		A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd	p.F432L	ENST00000350997.7	37	c.1296	CCDS8011.2	11	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791231	0.90367	.	.	ENSG00000149485	ENST00000543488;ENST00000350997;ENST00000412725;ENST00000536991;ENST00000433932;ENST00000460649;ENST00000542506	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	4.88	3.97	0.46021	Fatty acid desaturase, type 1 (1);	0.255682	0.25890	U	0.027627	T	0.14270	0.0345	L	0.38649	1.16	0.58432	D	0.999997	P	0.35923	0.528	B	0.39217	0.294	T	0.04229	-1.0967	10	0.66056	D	0.02	-11.0753	13.2304	0.59941	0.0785:0.0:0.9215:0.0	.	375	O60427	FADS1_HUMAN	L	307;432;291;123;291;77;291	ENSP00000322229:F432L;ENSP00000439097:F123L;ENSP00000405087:F291L;ENSP00000445253:F77L;ENSP00000441403:F291L	ENSP00000322229:F432L	F	-	3	2	FADS1	61327112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.870000	0.39529	1.196000	0.43129	0.655000	0.94253	TTC	FADS1	-	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase	ENSG00000149485		0.552	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS1	HGNC	protein_coding	OTTHUMT00000347648.2	-	0	33	0	G	NM_013402		61570536	-1	tier1	-	no_errors	ENST00000350997	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	T	T	61570536	G	T	61570536	3	4	133	1	0	0	0	0	1	0	0	0	5384	1281	45	3	221	3	FADS1	11	61570536	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	598813	61570536	73435980	280	34202											
FADS3	3995	genome.wustl.edu	37	chr11	61645986	61645986	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acgtccctccccacccacctCgacggatgactcccccagga	8	5	7	21	3	0	1	0	1	0	0	4	4	3	3	7	2	0	0	7	2	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:61645986C>G	ENST00000278829.2	-	5	897	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	FADS3_ENST00000540820.1_Missense_Mutation_p.E249Q|FADS3_ENST00000527697.1_Missense_Mutation_p.E125Q|FADS3_ENST00000525588.1_Missense_Mutation_p.E221Q	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	249					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCACCCACCTCGACGGATGAC	0.642																																																	0													91	89	90					11																	61645986		2202	4299	6501	SO:0001583	missense	0				CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"Fatty acid desaturases"	3576	protein-coding gene	gene with protein product	"delta-9-desaturase"	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.745G>C	11.37:g.61645986C>G	ENSP00000278829:p.Glu249Gln		O60426	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd	p.E249Q	ENST00000278829.2	37	c.745	CCDS8013.1	11	.	.	.	.	.	.	.	.	.	.	.	26.7	4.764697	0.90020	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	4.51	4.51	0.55191	Fatty acid desaturase, type 1 (1);	.	.	.	.	D	0.82508	0.5052	M	0.88450	2.955	0.58432	D	0.999999	D;D	0.61697	0.973;0.99	P;D	0.65874	0.906;0.939	T	0.82870	-0.0243	9	0.27082	T	0.32	-11.7093	16.1502	0.81611	0.0:1.0:0.0:0.0	.	125;249	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	Q	125;249;249;221;125;125	ENSP00000431533:E125Q;ENSP00000278829:E249Q;ENSP00000439308:E249Q;ENSP00000432206:E221Q;ENSP00000436890:E125Q;ENSP00000434551:E125Q	ENSP00000278829:E249Q	E	-	1	0	FADS3	61402562	1.000000	0.71417	0.919000	0.36401	0.260000	0.26232	6.662000	0.74426	2.214000	0.71695	0.561000	0.74099	GAG	FADS3	-	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase	ENSG00000221968		0.642	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS3	HGNC	protein_coding	OTTHUMT00000394836.1	-	0	71	0	C			61645986	-1	tier1	-	no_errors	ENST00000278829	ensembl	human	known	74_37	missense	8.14	79	7	SNP	0.999	G	G	61645986	C	G	61645986	3	3	133	1	0	0	0	0	1	0	0	0	5386	893	31	5	624	5	FADS3	11	61645986	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	75450	61645986	73360530	281	34203											
PCNXL3	399909	genome.wustl.edu	37	chr11	65403111	65403111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaacgccaagcaggcgcttCgcaacatgatcaactcctcc	12	6	8	15	3	1	2	1	1	0	1	4	2	3	2	3	1	4	3	3	1	4	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:65403111C>T	ENST00000355703.3	+	32	5835	c.5296C>T	c.(5296-5298)Cgc>Tgc	p.R1766C	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1766						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCAGGCGCTTCGCAACATGAT	0.677																																																	0													25	31	29					11																	65403111		2172	4256	6428	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5296C>T	11.37:g.65403111C>T	ENSP00000347931:p.Arg1766Cys		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.R1766C	ENST00000355703.3	37	c.5296	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511440	0.64522	.	.	ENSG00000197136	ENST00000355703	T	0.64438	-0.1	4.11	4.11	0.48088	.	0.063133	0.64402	D	0.000011	T	0.81795	0.4898	M	0.93283	3.4	0.46542	D	0.999092	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	D	0.84802	0.0785	10	0.87932	D	0	.	9.1807	0.37141	0.2168:0.7832:0.0:0.0	.	653;1766	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	C	1766	ENSP00000347931:R1766C	ENSP00000347931:R1766C	R	+	1	0	PCNXL3	65159687	0.991000	0.36638	0.997000	0.53966	0.900000	0.52787	1.615000	0.36922	2.142000	0.66516	0.462000	0.41574	CGC	PCNXL3	-	pfam_Pecanex	ENSG00000197136		0.677	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	-	0	57	0	C	NM_032223		65403111	1	tier1	-	no_errors	ENST00000355703	ensembl	human	known	74_37	missense	11.96	81	11	SNP	1.000	T	T	65403111	C	T	65403111	3	4	133	1	0	0	0	0	1	0	0	0	11632	884	31	1	5422	1	PCNXL3	11	65403111	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3757125	65403111	69603405	282	34204											
CHKA	1119	genome.wustl.edu	37	chr11	67837676	67837676	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggttttccagttccaaGggcagattgtaactgagcaa	11	11	10	9	0	1	2	1	1	0	1	3	2	3	2	2	2	2	5	2	2	3	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:67837676G>C	ENST00000265689.4	-	6	875	c.849C>G	c.(847-849)ccC>ccG	p.P283P	CHKA_ENST00000356135.5_Silent_p.P265P	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	283					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	CCAGTTCCAAGGGCAGATTGT	0.343																																																	0													84	90	88					11																	67837676		2200	4294	6494	SO:0001819	synonymous_variant	0			D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"choline kinase"	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.849C>G	11.37:g.67837676G>C			Q8NE29	Silent	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.P283	ENST00000265689.4	37	c.849	CCDS8178.1	11																																																																																			CHKA	-	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	ENSG00000110721		0.343	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHKA	HGNC	protein_coding	OTTHUMT00000394570.1	-	0	91	0	G	NM_001277		67837676	-1	tier1	-	no_errors	ENST00000265689	ensembl	human	known	74_37	silent	9.24	108	11	SNP	0.854	C	C	67837676	G	C	67837676	2	2	133	1	0	0	0	0	0	0	0	1	3354	987	35	5		5	CHKA	11	67837676	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2434565	67837676	67168840	283	34205											
MAP6	4135	genome.wustl.edu	37	chr11	75319308	75319308	+	Missense_Mutation	SNP	T	T	C	0	1	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	tatcatctgggggcttgtacTggggcttggcctttattggt	4	16	14	7	0	2	0	1	0	1	0	2	0	2	0	1	6	1	3	1	6	3	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:75319308T>C	ENST00000304771.3	-	2	1715	c.965A>G	c.(964-966)cAg>cGg	p.Q322R	MAP6_ENST00000434603.2_Missense_Mutation_p.Q322R|MAP6_ENST00000526740.1_5'UTR	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	322					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GGGCTTGTACTGGGGCTTGGC	0.458																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)												0													149	132	138					11																	75319308		2200	4293	6493	SO:0001583	missense	0			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.965A>G	11.37:g.75319308T>C	ENSP00000307093:p.Gln322Arg		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	pfam_MAP6/FAM154	p.Q322R	ENST00000304771.3	37	c.965	CCDS31641.1	11	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751610	0.89753	.	.	ENSG00000171533	ENST00000304771;ENST00000434603	T;T	0.56444	0.46;0.61	5.73	5.73	0.89815	.	0.000000	0.44902	D	0.000417	T	0.71904	0.3395	M	0.74881	2.28	0.52501	D	0.999958	D	0.76494	0.999	D	0.83275	0.996	T	0.75150	-0.3419	10	0.66056	D	0.02	-19.1907	13.98	0.64299	0.0:0.0:0.0:1.0	.	322	Q96JE9	MAP6_HUMAN	R	322	ENSP00000307093:Q322R;ENSP00000415108:Q322R	ENSP00000307093:Q322R	Q	-	2	0	MAP6	74996956	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.929000	0.70096	2.173000	0.68751	0.528000	0.53228	CAG	MAP6	-	pfam_MAP6/FAM154	ENSG00000171533		0.458	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP6	HGNC	protein_coding	OTTHUMT00000383527.1	-	0	100	0	T	NM_033063		75319308	-1	tier1	-	no_errors	ENST00000304771	ensembl	human	known	74_37	missense	8.70	126	12	SNP	1.000	C	C	75319308	T	C	75319308	3	2	133	1	0	0	0	0	1	0	0	0	9302	1580	55	4	1492	4	MAP6	11	75319308	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	7481632	75319308	59687208	284	34206											
TMEM135	65084	genome.wustl.edu	37	chr11	87030375	87030375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggaagttcagactttGagaccatcttactggaagtt	11	13	10	7	0	3	2	2	1	1	2	3	5	3	4	1	2	1	2	1	2	3	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:87030375G>T	ENST00000305494.5	+	14	1239	c.1200G>T	c.(1198-1200)ttG>ttT	p.L400F	TMEM135_ENST00000340353.7_Missense_Mutation_p.L378F|TMEM135_ENST00000532959.1_Missense_Mutation_p.L271F|TMEM135_ENST00000535167.1_Missense_Mutation_p.L261F	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	400					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCAGACTTTGAGACCATCTT	0.323																																																	0													84	85	85					11																	87030375		2201	4298	6499	SO:0001583	missense	0			BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.1200G>T	11.37:g.87030375G>T	ENSP00000306344:p.Leu400Phe		Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	NULL	p.L400F	ENST00000305494.5	37	c.1200	CCDS8280.1	11	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711997	0.68730	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.69306	-0.11;0.15;-0.39;0.14	5.85	1.67	0.24075	.	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	M	0.82323	2.585	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.76575	0.987;0.988	T	0.78521	-0.2172	9	.	.	.	-29.9045	10.1388	0.42723	0.286:0.0:0.714:0.0	.	378;400	Q86UB9-2;Q86UB9	.;TM135_HUMAN	F	378;237;271;400;261	ENSP00000345513:L378F;ENSP00000436179:L271F;ENSP00000306344:L400F;ENSP00000439525:L261F	.	L	+	3	2	TMEM135	86708023	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	2.017000	0.40981	0.323000	0.23307	0.650000	0.86243	TTG	TMEM135	-	NULL	ENSG00000166575		0.323	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM135	HGNC	protein_coding	OTTHUMT00000393875.1	-	0	91	0	G	NM_022918		87030375	1	tier1	-	no_errors	ENST00000305494	ensembl	human	known	74_37	missense	7.58	122	10	SNP	1.000	T	T	87030375	G	T	87030375	3	4	133	1	0	0	0	0	1	0	0	0	16098	1281	45	3	1254	3	TMEM135	11	87030375	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	11711067	87030375	47976141	285	34207											
TYR	7299	genome.wustl.edu	37	chr11	89028425	89028425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcactgccctgctggcagGgcttgtgagcttgctgtgtc	3	12	13	13	0	1	1	1	1	0	0	2	1	1	1	2	2	4	5	2	2	0	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:89028425G>T	ENST00000263321.5	+	5	1983	c.1481G>T	c.(1480-1482)gGg>gTg	p.G494V		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	494					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CTGCTGGCAGGGCTTGTGAGC	0.537																																																	0													37	39	39					11																	89028425		2200	4299	6499	SO:0001583	missense	0			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1481G>T	11.37:g.89028425G>T	ENSP00000263321:p.Gly494Val		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.G494V	ENST00000263321.5	37	c.1481	CCDS8284.1	11	.	.	.	.	.	.	.	.	.	.	G	2.167	-0.390873	0.04932	.	.	ENSG00000077498	ENST00000263321	D	0.99080	-5.4	5.02	3.06	0.35304	.	0.408058	0.26991	N	0.021474	D	0.95611	0.8573	N	0.13098	0.295	0.23464	N	0.997629	B	0.14012	0.009	B	0.09377	0.004	D	0.87017	0.2126	9	.	.	.	.	14.0848	0.64949	0.0:0.4381:0.5618:0.0	.	494	P14679	TYRO_HUMAN	V	494	ENSP00000263321:G494V	.	G	+	2	0	TYR	88668073	0.009000	0.17119	0.000000	0.03702	0.170000	0.22686	0.707000	0.25704	0.578000	0.29487	0.455000	0.32223	GGG	TYR	-	NULL	ENSG00000077498		0.537	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2	-	0	75	0	G	NM_000372		89028425	1	tier1	-	no_errors	ENST00000263321	ensembl	human	known	74_37	missense	15.38	66	12	SNP	0.001	T	T	89028425	G	T	89028425	3	4	133	1	0	0	0	0	1	0	0	0	16862	1232	43	3	1499	3	TYR	11	89028425	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1998050	89028425	45978091	286	34208											
ANKRD49	54851	genome.wustl.edu	37	chr11	94231384	94231384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagggggccgatgttcatGcagtgactgtggatggctgg	7	9	17	8	1	1	1	1	1	0	0	1	3	1	2	1	5	1	3	1	5	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:94231384G>A	ENST00000544612.1	+	3	903	c.406G>A	c.(406-408)Gca>Aca	p.A136T	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.A136T	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	136					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGATGTTCATGCAGTGACTGT	0.493																																					Melanoma(113;823 1621 4352 9582 22033)												0													116	105	109					11																	94231384		2201	4298	6499	SO:0001583	missense	0			AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"Ankyrin repeat domain containing"	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.406G>A	11.37:g.94231384G>A	ENSP00000440396:p.Ala136Thr		Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A136T	ENST00000544612.1	37	c.406	CCDS8300.1	11	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841365	0.91197	.	.	ENSG00000168876	ENST00000544612;ENST00000535502;ENST00000302755	T;T;T	0.66995	-0.24;-0.24;-0.24	6.07	6.07	0.98685	Ankyrin repeat-containing domain (4);	0.047516	0.85682	D	0.000000	T	0.79215	0.4408	L	0.59436	1.845	0.80722	D	1	D	0.59767	0.986	P	0.62014	0.897	T	0.76724	-0.2854	10	0.48119	T	0.1	-20.3902	20.6593	0.99626	0.0:0.0:1.0:0.0	.	136	Q8WVL7	ANR49_HUMAN	T	136;95;136	ENSP00000440396:A136T;ENSP00000442449:A95T;ENSP00000303518:A136T	ENSP00000303518:A136T	A	+	1	0	ANKRD49	93871032	1.000000	0.71417	0.646000	0.29493	0.890000	0.51754	6.921000	0.75805	2.885000	0.99019	0.655000	0.94253	GCA	ANKRD49	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000168876		0.493	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD49	HGNC	protein_coding	OTTHUMT00000396314.2	-	0	75	0	G	NM_017704		94231384	1	tier1	-	no_errors	ENST00000302755	ensembl	human	known	74_37	missense	8.65	95	9	SNP	1.000	A	A	94231384	G	A	94231384	3	1	133	1	0	0	0	0	1	0	0	0	675	1319	46	3	412	3	ANKRD49	11	94231384	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5202959	94231384	40775132	287	34209											
ATM	472	genome.wustl.edu	37	chr11	108122714	108122714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttattctatcagttagaGggtgacttagaaaatagcac	13	13	8	7	0	3	3	1	1	2	2	3	3	3	3	0	1	1	2	0	1	7	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:108122714G>T	ENST00000452508.2	+	12	1947	c.1758G>T	c.(1756-1758)gaG>gaT	p.E586D	ATM_ENST00000278616.4_Missense_Mutation_p.E586D			Q13315	ATM_HUMAN	ATM serine/threonine kinase	586					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)	ATCAGTTAGAGGGTGACTTAG	0.338			"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													92	100	97					11																	108122714		2201	4298	6499	SO:0001583	missense	0	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.1758G>T	11.37:g.108122714G>T	ENSP00000388058:p.Glu586Asp		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E586D	ENST00000452508.2	37	c.1758	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	5.492	0.275790	0.10403	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.59224	0.28;0.28;0.28	6.03	-0.873	0.10635	Armadillo-type fold (1);	0.230138	0.45867	D	0.000336	T	0.43322	0.1242	L	0.53249	1.67	0.24096	N	0.995893	B	0.13145	0.007	B	0.10450	0.005	T	0.28073	-1.0055	10	0.16420	T	0.52	.	7.4752	0.27371	0.3818:0.0:0.516:0.1023	.	586	Q13315	ATM_HUMAN	D	586	ENSP00000435747:E586D;ENSP00000278616:E586D;ENSP00000388058:E586D	ENSP00000278616:E586D	E	+	3	2	ATM	107627924	1.000000	0.71417	0.996000	0.52242	0.096000	0.18686	0.662000	0.25038	-0.047000	0.13423	-0.259000	0.10710	GAG	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1		0	44	0	G	NM_000051		108122714	1			no_errors	ENST00000278616	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.982	T	T	108122714	G	T	108122714	3	4	133	1	0	0	0	0	1	0	0	0	1110	991	35	3	1796	3	ATM	11	108122714	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	13891330	108122714	26883802	288	34210											
DSCAML1	57453	genome.wustl.edu	37	chr11	117395568	117395568	+	Missense_Mutation	SNP	T	T	A	0	1	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	tgccgaaccgaaggtgttggTgacctcacaaatgtaggtgc	10	9	13	9	2	1	1	1	1	0	0	1	3	1	1	3	3	3	2	3	3	4	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:117395568T>A	ENST00000321322.6	-	5	1070	c.1069A>T	c.(1069-1071)Acc>Tcc	p.T357S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T87S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	297	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)		AAGGTGTTGGTGACCTCACAA	0.637																																																	0													51	40	44					11																	117395568		2200	4296	6496	SO:0001583	missense	0				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.1069A>T	11.37:g.117395568T>A	ENSP00000315465:p.Thr357Ser		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T357S	ENST00000321322.6	37	c.1069	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	T	7.171	0.587590	0.13812	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.68479	-0.33;-0.33	4.94	3.8	0.43715	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41834	0.1176	N	0.12471	0.22	0.38822	D	0.955658	B;B	0.10296	0.002;0.003	B;B	0.21360	0.013;0.034	T	0.30650	-0.9971	9	0.02654	T	1	.	9.2753	0.37696	0.288:0.0:0.0:0.712	.	87;297	G3V1B5;Q8TD84	.;DSCL1_HUMAN	S	87;357;64	ENSP00000434335:T87S;ENSP00000315465:T357S	ENSP00000315465:T357S	T	-	1	0	DSCAML1	116900778	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.944000	0.70219	0.895000	0.36342	0.454000	0.30748	ACC	DSCAML1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000177103		0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0	82	0	T	NM_020693		117395568	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	12.79	75	11	SNP	1.000	A	A	117395568	T	A	117395568	3	1	133	1	0	0	0	0	1	0	0	0	4783	1696	59	5	5388	5	DSCAML1	11	117395568	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	9272854	117395568	17610948	289	34211											
PHLDB1	23187	genome.wustl.edu	37	chr11	118499143	118499143	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	accccacaagggcagcttcaGtggcaggctgagcccagcct	9	5	12	15	0	1	1	1	1	0	0	1	1	1	1	4	3	3	4	4	3	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:118499143G>A	ENST00000361417.2	+	7	2015	c.1604G>A	c.(1603-1605)aGt>aAt	p.S535N	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S535N	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	535										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGCAGCTTCAGTGGCAGGCTG	0.657																																																	0													11	13	13					11																	118499143		2189	4277	6466	SO:0001583	missense	0				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1604G>A	11.37:g.118499143G>A	ENSP00000354498:p.Ser535Asn		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S535N	ENST00000361417.2	37	c.1604	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268518	0.40095	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.32753	1.45;1.44	5.55	5.55	0.83447	.	0.607647	0.19556	N	0.111443	T	0.26557	0.0649	N	0.22421	0.69	0.80722	D	1	P;B;P	0.36465	0.554;0.065;0.546	B;B;B	0.39419	0.299;0.035;0.101	T	0.03717	-1.1010	10	0.24483	T	0.36	-13.3395	17.6889	0.88263	0.0:0.0:1.0:0.0	.	535;535;535	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	N	535;294;535	ENSP00000354498:S535N;ENSP00000348359:S535N	ENSP00000348359:S535N	S	+	2	0	PHLDB1	118004353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.190000	0.72057	2.612000	0.88384	0.655000	0.94253	AGT	PHLDB1	-	NULL	ENSG00000019144		0.657	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1	-	0	81	0	G	NM_015157		118499143	1	tier1	-	no_errors	ENST00000361417	ensembl	human	known	74_37	missense	7.78	83	7	SNP	1.000	A	A	118499143	G	A	118499143	3	1	133	1	0	0	0	0	1	0	0	0	11890	1029	36	3	1622	3	PHLDB1	11	118499143	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1103575	118499143	16507373	290	34212											
PVRL1	5818	genome.wustl.edu	37	chr11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-																															gcgctcgccccctccaccgcCctcctcctcctcctcctcct																								rs539461545|rs375181781|rs369523216		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																																	1	Deletion - Frameshift(1)	kidney(1)																																								SO:0001651	inframe_deletion	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E444in_frame_del	ENST00000264025.3	37	c.1333_1331	CCDS8426.1	11																																																																																			PVRL1	-	NULL	ENSG00000110400		0.66	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1		0	40	0	CCT			119535680	-1	tier1		no_errors	ENST00000264025	ensembl	human	known	74_37	in_frame_del	8.89	41	4	DEL	0.989:0.994:0.997	-	-	119535680	CCT	-	119535678	7	5	133	1	0	1	0	1	0	0	0	0	12884	623	22	0	610	0	PVRL1	11	119535678	In_Frame_Del	DEL	CCT	TCGA-LN-A9FP-01A-31D-A387-09	1036535	119535678	15470838	291	34213											
OR10G4	390264	genome.wustl.edu	37	chr11	123887127	123887127	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtgctgacgccccttctCaaccctgttgtgtacaccct	6	12	7	16	1	1	1	1	1	1	0	2	1	1	1	4	0	3	3	4	0	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:123887127C>G	ENST00000320891.4	+	1	846	c.846C>G	c.(844-846)ctC>ctG	p.L282L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	282						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)		CGCCCCTTCTCAACCCTGTTG	0.463																																																	0													97	87	90					11																	123887127		2201	4299	6500	SO:0001819	synonymous_variant	0			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.846C>G	11.37:g.123887127C>G			Q6IEW0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L282	ENST00000320891.4	37	c.846	CCDS31702.1	11																																																																																			OR10G4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000254737		0.463	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1	-	0	145	0	C	NM_001004462		123887127	1	tier1	-	no_errors	ENST00000320891	ensembl	human	known	74_37	silent	5.00	152	8	SNP	0.179	G	G	123887127	C	G	123887127	2	3	133	1	0	0	0	0	0	0	0	1	10940	813	29	5		5	OR10G4	11	123887127	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	4351449	123887127	11119389	292	34214											
OR8D2	283160	genome.wustl.edu	37	chr11	124190034	124190034	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtggcagttgaagttctggGcgttgtgtcaagcctgccag	7	11	15	8	1	2	1	1	1	1	0	2	1	2	1	2	2	2	4	2	2	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:124190034G>T	ENST00000357438.2	-	1	150	c.60C>A	c.(58-60)cgC>cgA	p.R20R		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	20						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)		GAAGTTCTGGGCGTTGTGTCA	0.438																																																	0													67	68	68					11																	124190034		2200	4299	6499	SO:0001819	synonymous_variant	0			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.60C>A	11.37:g.124190034G>T			B9EH49|Q6IFR0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R20	ENST00000357438.2	37	c.60	CCDS31707.1	11																																																																																			OR8D2	-	NULL	ENSG00000197263		0.438	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1		0	62	0	G	NM_001002918		124190034	-1			no_errors	ENST00000357438	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.003	T	T	124190034	G	T	124190034	2	4	133	1	0	0	0	0	0	0	0	1	11271	1190	42	3		3	OR8D2	11	124190034	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	302907	124190034	10816482	293	34215											
CCDC15	80071	genome.wustl.edu	37	chr11	124845083	124845083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttccagatgatggaaGgaaaagctttcttaccagag	13	11	11	6	0	1	3	0	1	1	2	2	5	2	5	2	2	2	2	2	2	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr11:124845083G>A	ENST00000344762.5	+	5	867	c.608G>A	c.(607-609)aGg>aAg	p.R203K	CCDC15_ENST00000529051.1_Missense_Mutation_p.R203K	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	203						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)		GATGATGGAAGGAAAAGCTTT	0.343																																																	0													38	35	36					11																	124845083		1823	4067	5890	SO:0001583	missense	0			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.608G>A	11.37:g.124845083G>A	ENSP00000341684:p.Arg203Lys		Q9H8U7	Missense_Mutation	SNP	NULL	p.R203K	ENST00000344762.5	37	c.608	CCDS44756.1	11	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110318	0.56398	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.37411	1.2;1.2	5.08	-1.06	0.10002	.	0.309807	0.28176	N	0.016301	T	0.11196	0.0273	N	0.11201	0.11	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.22730	-1.0208	10	0.02654	T	1	-8.3538	1.725	0.02920	0.3049:0.1358:0.4217:0.1375	.	203	Q0P6D6	CCD15_HUMAN	K	203	ENSP00000435403:R203K;ENSP00000341684:R203K	ENSP00000341684:R203K	R	+	2	0	CCDC15	124350293	0.000000	0.05858	0.018000	0.16275	0.697000	0.40408	-0.561000	0.05957	0.101000	0.17610	0.563000	0.77884	AGG	CCDC15	-	NULL	ENSG00000149548		0.343	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC15	HGNC	protein_coding	OTTHUMT00000387131.1		0	41	0	G	NM_025004		124845083	1			no_errors	ENST00000344762	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	A	A	124845083	G	A	124845083	3	1	133	1	0	0	0	0	1	0	0	0	2791	1000	35	3	622	3	CCDC15	11	124845083	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	655049	124845083	10161433	294	34216											
CACNA1C	775	genome.wustl.edu	37	chr12	2760889	2760889	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgaagctgctgagccgtggGgagggcatccggacgctgct	6	7	18	10	3	0	2	0	2	0	0	1	4	1	4	2	4	4	5	2	4	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:2760889G>T	ENST00000347598.4	+	34	4173	c.4173G>T	c.(4171-4173)ggG>ggT	p.G1391G	CACNA1C_ENST00000399655.1_Silent_p.G1343G|CACNA1C_ENST00000399637.1_Silent_p.G1343G|CACNA1C_ENST00000344100.3_Silent_p.G1365G|CACNA1C_ENST00000399601.1_Silent_p.G1343G|CACNA1C_ENST00000399621.1_Silent_p.G1343G|CACNA1C_ENST00000399606.1_Silent_p.G1363G|CACNA1C_ENST00000327702.7_Silent_p.G1343G|CACNA1C_ENST00000399634.1_Silent_p.G1343G|CACNA1C_ENST00000399638.1_Silent_p.G1371G|CACNA1C_ENST00000399629.1_Silent_p.G1360G|CACNA1C_ENST00000399649.1_Silent_p.G1330G|CACNA1C_ENST00000399617.1_Silent_p.G1343G|CACNA1C_ENST00000399595.1_Silent_p.G1332G|CACNA1C_ENST00000406454.3_Silent_p.G1343G|CACNA1C_ENST00000399644.1_Silent_p.G1343G|CACNA1C_ENST00000399591.1_Silent_p.G1332G|CACNA1C_ENST00000402845.3_Silent_p.G1343G|CACNA1C_ENST00000399641.1_Silent_p.G1343G|CACNA1C_ENST00000335762.5_Silent_p.G1368G|CACNA1C_ENST00000399597.1_Silent_p.G1343G|CACNA1C_ENST00000399603.1_Silent_p.G1343G	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1391					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)	TGAGCCGTGGGGAGGGCATCC	0.647																																																	0													55	65	62					12																	2760889		2201	4296	6497	SO:0001819	synonymous_variant	0			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.4173G>T	12.37:g.2760889G>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	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.G1343	ENST00000347598.4	37	c.4029	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000151067		0.647	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0	54	0	G	NM_000719		2760889	1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	silent	15.15	56	10	SNP	1.000	T	T	2760889	G	T	2760889	2	4	133	1	0	0	0	0	0	0	0	1	2547	1219	43	3		3	CACNA1C	12	2760889	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09		2760889	131091006	295	34217											
AKAP3	10566	genome.wustl.edu	37	chr12	4737521	4737521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	attcctggaacatgcagagaCggtctcattcacaagctctg	11	10	9	11	1	3	1	2	0	2	1	5	3	4	2	1	2	3	2	1	2	2	2	rs140759485		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:4737521C>T	ENST00000545990.2	-	5	1071	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	AKAP3_ENST00000228850.1_Missense_Mutation_p.V183I|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	183					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATGCAGAGACGGTCTCATTC	0.478																																																	0								C	ILE/VAL	0,4406		0,0,2203	140	130	133		547	4.8	0.1	12	dbSNP_134	133	2,8598	2.2+/-6.3	0,2,4298	no	missense	AKAP3	NM_006422.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	183/854	4737521	2,13004	2203	4300	6503	SO:0001583	missense	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.547G>A	12.37:g.4737521C>T	ENSP00000440994:p.Val183Ile		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.V183I	ENST00000545990.2	37	c.547	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	12.44	1.940079	0.34283	0.0	2.33E-4	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.11930	2.73;2.73	4.75	4.75	0.60458	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.52532	D	0.000070	T	0.17704	0.0425	M	0.78049	2.395	0.09310	N	0.999999	P	0.52577	0.954	B	0.40741	0.339	T	0.36114	-0.9761	10	0.87932	D	0	.	9.1003	0.36664	0.0:0.9018:0.0:0.0982	.	183	O75969	AKAP3_HUMAN	I	183	ENSP00000228850:V183I;ENSP00000440994:V183I	ENSP00000228850:V183I	V	-	1	0	AKAP3	4607782	0.615000	0.27026	0.095000	0.20976	0.224000	0.24922	1.295000	0.33377	2.615000	0.88500	0.650000	0.86243	GTC	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.478	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	-	0	70	0	C	NM_006422		4737521	-1	tier1	rs140759485	no_errors	ENST00000228850	ensembl	human	known	74_37	missense	11.11	64	8	SNP	0.203	T	T	4737521	C	T	4737521	3	4	133	1	0	0	0	0	1	0	0	0	452	536	19	1	2022	1	AKAP3	12	4737521	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1976632	4737521	129114374	296	34218											
TAPBPL	55080	genome.wustl.edu	37	chr12	6571229	6571229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttgggctgcttcaggctGaacgctgggagaccacttcc	7	9	13	12	1	1	2	1	1	0	1	2	4	2	2	2	3	2	4	2	3	1	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:6571229G>A	ENST00000266556.7	+	7	1486	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	TAPBPL_ENST00000545700.1_3'UTR|VAMP1_ENST00000544432.1_5'Flank	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	441					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						GCTTCAGGCTGAACGCTGGGA	0.562																																																	0													102	83	90					12																	6571229		2203	4300	6503	SO:0001583	missense	0			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.1321G>A	12.37:g.6571229G>A	ENSP00000266556:p.Glu441Lys		Q9NWB8	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom	p.E441K	ENST00000266556.7	37	c.1321	CCDS8546.1	12	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056642	0.36277	.	.	ENSG00000139192	ENST00000266556	T	0.09445	2.98	4.35	-0.725	0.11174	.	3.179800	0.00792	N	0.001340	T	0.07638	0.0192	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.29119	-1.0022	10	0.25751	T	0.34	5.332	4.2207	0.10556	0.151:0.0:0.5154:0.3336	.	441	Q9BX59	TPSNR_HUMAN	K	441	ENSP00000266556:E441K	ENSP00000266556:E441K	E	+	1	0	TAPBPL	6441490	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.521000	0.02239	-0.270000	0.09285	-0.181000	0.13052	GAA	TAPBPL	-	NULL	ENSG00000139192		0.562	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBPL	HGNC	protein_coding	OTTHUMT00000399263.1	-	0	60	0	G	NM_018009		6571229	1	tier1	-	no_errors	ENST00000266556	ensembl	human	known	74_37	missense	10.94	57	7	SNP	0.000	A	A	6571229	G	A	6571229	3	1	133	1	0	0	0	0	1	0	0	0	15600	1291	45	3	1347	3	TAPBPL	12	6571229	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1833708	6571229	127280666	297	34219											
USP5	8078	genome.wustl.edu	37	chr12	6973255	6973255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcctggctctagtgggccgGgctccacaagcgcagcagcc	6	6	14	15	2	1	0	0	0	1	0	2	0	2	0	4	3	4	4	4	3	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:6973255G>T	ENST00000229268.8	+	17	2192	c.2140G>T	c.(2140-2142)Ggc>Tgc	p.G714C	USP5_ENST00000389231.5_Missense_Mutation_p.G691C	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	714	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TAGTGGGCCGGGCTCCACAAG	0.637																																																	0													100	111	107					12																	6973255		2203	4300	6503	SO:0001583	missense	0			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.2140G>T	12.37:g.6973255G>T	ENSP00000229268:p.Gly714Cys		D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.G714C	ENST00000229268.8	37	c.2140	CCDS41743.1	12	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354769	0.41700	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.25579	1.79;1.79	4.58	4.58	0.56647	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);UBA-like (1);	0.168194	0.52532	D	0.000064	T	0.46073	0.1374	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.919	T	0.41716	-0.9493	10	0.62326	D	0.03	-7.2535	12.6583	0.56799	0.0:0.0:0.835:0.165	.	714;691	P45974;P45974-2	UBP5_HUMAN;.	C	714;691	ENSP00000229268:G714C;ENSP00000373883:G691C	ENSP00000229268:G714C	G	+	1	0	USP5	6843516	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	4.909000	0.63314	2.388000	0.81334	0.555000	0.69702	GGC	USP5	-	pfam_Peptidase_C19/C67,superfamily_UBA-like,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67	ENSG00000111667		0.637	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP5	HGNC	protein_coding	OTTHUMT00000402982.1	-	0	47	0	G			6973255	1	tier1	-	no_errors	ENST00000229268	ensembl	human	known	74_37	missense	9.38	58	6	SNP	1.000	T	T	6973255	G	T	6973255	3	4	133	1	0	0	0	0	1	0	0	0	17130	1232	43	3	2206	3	USP5	12	6973255	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	402026	6973255	126878640	298	34220											
SLC2A3	6515	genome.wustl.edu	37	chr12	8077066	8077066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatccctccaaggcctatCatatgcagagtccttcttcc	8	11	6	16	0	2	1	1	0	1	1	6	1	6	1	6	1	1	1	6	1	3	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:8077066C>G	ENST00000075120.7	-	8	1248	c.1008G>C	c.(1006-1008)atG>atC	p.M336I		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	336					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)		CAAGGCCTATCATATGCAGAG	0.428																																					Colon(96;424 1461 14416 20933 23688)												0													46	51	50					12																	8077066		2201	4297	6498	SO:0001583	missense	0			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.1008G>C	12.37:g.8077066C>G	ENSP00000075120:p.Met336Ile		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.M336I	ENST00000075120.7	37	c.1008	CCDS8586.1	12	.	.	.	.	.	.	.	.	.	.	C	10.59	1.391673	0.25118	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.72167	-0.63	4.0	4.0	0.46444	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.250907	0.40469	N	0.001083	T	0.54415	0.1857	N	0.16368	0.405	0.09310	N	0.999999	B	0.23058	0.079	B	0.32762	0.152	T	0.44605	-0.9317	10	0.30078	T	0.28	.	9.2644	0.37632	0.2152:0.7848:0.0:0.0	.	336	P11169	GTR3_HUMAN	I	336;262	ENSP00000075120:M336I	ENSP00000075120:M336I	M	-	3	0	SLC2A3	7968333	0.000000	0.05858	0.112000	0.21494	0.987000	0.75469	-0.462000	0.06704	2.217000	0.71921	0.563000	0.77884	ATG	SLC2A3	-	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000059804		0.428	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A3	HGNC	protein_coding	OTTHUMT00000257914.1		0	68	0	C	NM_006931		8077066	-1			no_errors	ENST00000075120	ensembl	human	known	74_37	missense	5.81	81	5	SNP	0.024	G	G	8077066	C	G	8077066	3	3	133	1	0	0	0	0	1	0	0	0	14590	826	29	5	494	5	SLC2A3	12	8077066	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1103811	8077066	125774829	299	34221											
SLC2A3	6515	genome.wustl.edu	37	chr12	8077078	8077078	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcctatcatatgcagagtCcttcttcctgccctttccac	7	13	6	15	0	2	1	1	0	1	1	5	1	5	1	5	1	2	1	5	1	2	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:8077078C>T	ENST00000075120.7	-	8	1236	c.996G>A	c.(994-996)agG>agA	p.R332R		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	332					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)		TATGCAGAGTCCTTCTTCCTG	0.413																																					Colon(96;424 1461 14416 20933 23688)												0													32	35	34					12																	8077078		2196	4280	6476	SO:0001819	synonymous_variant	0			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.996G>A	12.37:g.8077078C>T			B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.R332	ENST00000075120.7	37	c.996	CCDS8586.1	12																																																																																			SLC2A3	-	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000059804		0.413	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A3	HGNC	protein_coding	OTTHUMT00000257914.1		0	61	0	C	NM_006931		8077078	-1			no_errors	ENST00000075120	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.998	T	T	8077078	C	T	8077078	2	4	133	1	0	0	0	0	0	0	0	1	14590	854	30	3		3	SLC2A3	12	8077078	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	12	8077078	125774817	300	34222											
KIAA1467	57613	genome.wustl.edu	37	chr12	13232915	13232915	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgaagatttctctctaGgataaagtttgttgaagctc	10	14	10	7	1	2	2	0	1	2	1	4	4	2	3	0	1	2	4	0	1	5	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:13232915G>C	ENST00000197268.8	+	12	1955	c.1835G>C	c.(1834-1836)aGg>aCg	p.R612T		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	612						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTTCTCTCTAGGATAAAGTTT	0.483																																																	0													36	41	39					12																	13232915		2203	4300	6503	SO:0001583	missense	0			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1835G>C	12.37:g.13232915G>C	ENSP00000197268:p.Arg612Thr		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.R612T	ENST00000197268.8	37	c.1835	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116411	0.77323	.	.	ENSG00000084444	ENST00000197268	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	M	0.64997	1.995	0.51012	D	0.999904	D	0.89917	1.0	D	0.91635	0.999	T	0.79584	-0.1743	9	0.87932	D	0	-13.4983	17.4437	0.87573	0.0:0.0:1.0:0.0	.	612	A2RU67	K1467_HUMAN	T	612	.	ENSP00000197268:R612T	R	+	2	0	KIAA1467	13124182	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	6.063000	0.71162	2.540000	0.85666	0.650000	0.86243	AGG	KIAA1467	-	NULL	ENSG00000084444		0.483	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	-	0	82	0	G	NM_020853		13232915	1	tier1	-	no_errors	ENST00000197268	ensembl	human	known	74_37	missense	6.60	99	7	SNP	1.000	C	C	13232915	G	C	13232915	3	2	133	1	0	0	0	0	1	0	0	0	8262	1000	35	5	1881	5	KIAA1467	12	13232915	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5155837	13232915	120618980	301	34223											
ATF7IP	55729	genome.wustl.edu	37	chr12	14577456	14577456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgatctctcctctggtGatcccacctctagtgatccc	6	13	7	15	0	3	4	0	4	3	0	7	4	6	4	4	1	0	0	4	1	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:14577456G>T	ENST00000540793.1	+	1	762	c.607G>T	c.(607-609)Gat>Tat	p.D203Y	ATF7IP_ENST00000536444.1_Missense_Mutation_p.D203Y|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D203Y|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D203Y|ATF7IP_ENST00000544627.1_Missense_Mutation_p.D211Y|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	203					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						CTCCTCTGGTGATCCCACCTC	0.532																																																	0													157	123	134					12																	14577456		2203	4300	6503	SO:0001583	missense	0			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.607G>T	12.37:g.14577456G>T	ENSP00000444589:p.Asp203Tyr		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D203Y	ENST00000540793.1	37	c.607	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203851	0.58234	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.31247	1.79;1.7;1.69;1.79;1.5;1.79	5.85	3.93	0.45458	.	0.534882	0.17351	N	0.177404	T	0.32194	0.0821	L	0.36672	1.1	0.09310	N	0.999997	D;D;P;P;P	0.59767	0.986;0.986;0.955;0.955;0.955	P;P;B;B;P	0.54100	0.742;0.742;0.44;0.44;0.66	T	0.11275	-1.0594	10	0.66056	D	0.02	-0.3601	5.4423	0.16515	0.1835:0.0:0.6543:0.1622	.	211;203;203;203;203	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	Y	203;203;203;211;203;203	ENSP00000261168:D203Y;ENSP00000443179:D203Y;ENSP00000445955:D203Y;ENSP00000440440:D211Y;ENSP00000379575:D203Y;ENSP00000444589:D203Y	ENSP00000261168:D203Y	D	+	1	0	ATF7IP	14468723	0.004000	0.15560	0.065000	0.19835	0.018000	0.09664	0.583000	0.23849	1.543000	0.49345	0.655000	0.94253	GAT	ATF7IP	-	NULL	ENSG00000171681		0.532	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	-	0	100	0	G	NM_018179		14577456	1	tier1	-	no_errors	ENST00000261168	ensembl	human	known	74_37	missense	9.45	115	12	SNP	0.178	T	T	14577456	G	T	14577456	3	4	133	1	0	0	0	0	1	0	0	0	1088	1290	45	3	609	3	ATF7IP	12	14577456	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1344541	14577456	119274439	302	34224											
ITPR2	3709	genome.wustl.edu	37	chr12	26572079	26572079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccatatccaggatgactgctCggtacccacgggtgaacgtg	9	8	12	12	3	0	2	0	2	0	0	2	3	1	3	3	3	3	2	3	3	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:26572079C>G	ENST00000381340.3	-	50	7429	c.7013G>C	c.(7012-7014)cGa>cCa	p.R2338P	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2338					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)	GATGACTGCTCGGTACCCACG	0.453																																																	0													96	99	98					12																	26572079		2003	4177	6180	SO:0001583	missense	0			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.7013G>C	12.37:g.26572079C>G	ENSP00000370744:p.Arg2338Pro		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R2338P	ENST00000381340.3	37	c.7013	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031195	0.54790	.	.	ENSG00000123104	ENST00000381340	D	0.98617	-5.03	5.22	5.22	0.72569	Ion transport (1);	0.208958	0.39909	N	0.001223	D	0.97990	0.9338	N	0.24115	0.695	0.80722	D	1	P	0.46987	0.888	P	0.60609	0.877	D	0.97842	1.0269	10	0.33141	T	0.24	.	18.9781	0.92746	0.0:1.0:0.0:0.0	.	2338	Q14571	ITPR2_HUMAN	P	2338	ENSP00000370744:R2338P	ENSP00000370744:R2338P	R	-	2	0	ITPR2	26463346	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	4.453000	0.60061	2.716000	0.92895	0.655000	0.94253	CGA	ITPR2	-	pfam_Ion_trans_dom	ENSG00000123104		0.453	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	-	0	55	0	C	NM_002223		26572079	-1	tier1	-	no_errors	ENST00000381340	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	G	G	26572079	C	G	26572079	3	3	133	1	0	0	0	0	1	0	0	0	7948	884	31	5	1124	5	ITPR2	12	26572079	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	11994623	26572079	107279816	303	34225											
OR8S1	341568	genome.wustl.edu	37	chr12	48919789	48919789	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgaccgccatgctgcCatctgccgcccactacttta	7	10	7	17	2	1	1	0	1	1	0	1	1	1	1	6	0	4	1	6	0	3	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:48919789C>G	ENST00000310194.1	+	1	375	c.375C>G	c.(373-375)gcC>gcG	p.A125A	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCCATGCTGCCATCTGCCGCC	0.542																																																	1	Substitution - coding silent(1)	lung(1)											131	119	123					12																	48919789		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.375C>G	12.37:g.48919789C>G				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A125	ENST00000310194.1	37	c.375	CCDS31789.1	12																																																																																			OR8S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197376		0.542	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	HGNC	protein_coding	OTTHUMT00000406881.1	-	0	32	0	C			48919789	1	tier1	-	no_errors	ENST00000310194	ensembl	human	known	74_37	silent	15.71	59	11	SNP	1.000	G	G	48919789	C	G	48919789	2	3	133	1	0	0	0	0	0	0	0	1	11285	581	21	5		5	OR8S1	12	48919789	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	22347710	48919789	84932106	304	34226											
MLL2	8085	genome.wustl.edu	37	chr12	49443837	49443837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttcacatggtgagccCtgccctgctgtctgcttgca	4	14	10	13	0	3	1	1	1	2	0	3	1	3	1	2	1	5	4	2	1	0	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:49443837C>A	ENST00000301067.7	-	11	3533	c.3534G>T	c.(3532-3534)caG>caT	p.Q1178H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1178	Pro-rich.			Q -> R (in Ref. 1; AAC51734/AAC51735). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATGGTGAGCCCTGCCCTGCTG	0.577																																																	0													68	74	72					12																	49443837		2017	4170	6187	SO:0001583	missense	0			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.3534G>T	12.37:g.49443837C>A	ENSP00000301067:p.Gln1178His		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1178H	ENST00000301067.7	37	c.3534	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234260	0.22626	.	.	ENSG00000167548	ENST00000301067	T	0.80909	-1.43	5.4	3.56	0.40772	.	0.000000	0.34828	N	0.003651	T	0.71384	0.3333	N	0.08118	0	0.26766	N	0.96989	D	0.61080	0.989	P	0.53809	0.735	T	0.65923	-0.6050	10	0.87932	D	0	.	9.5066	0.39051	0.0:0.7682:0.0:0.2318	.	1178	O14686	MLL2_HUMAN	H	1178	ENSP00000301067:Q1178H	ENSP00000301067:Q1178H	Q	-	3	2	MLL2	47730104	0.980000	0.34600	1.000000	0.80357	0.949000	0.60115	0.252000	0.18278	0.636000	0.30508	0.563000	0.77884	CAG	KMT2D	-	NULL	ENSG00000167548		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0	50	0	C			49443837	-1			no_errors	ENST00000301067	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	49443837	C	A	49443837	3	1	133	1	0	0	0	0	1	0	0	0	9659	680	24	3	13255	3	MLL2	12	49443837	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	524048	49443837	84408058	305	34227											
PRPH	5630	genome.wustl.edu	37	chr12	49689244	49689244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccatggccgaggccctcaaCcaggagttcctggccacgcg	7	6	12	16	3	1	0	1	0	0	0	3	2	3	1	6	4	1	1	6	4	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:49689244C>G	ENST00000257860.4	+	1	1760	c.261C>G	c.(259-261)aaC>aaG	p.N87K	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						AGGCCCTCAACCAGGAGTTCC	0.677																																																	0													13	13	13					12																	49689244		2195	4296	6491	SO:0001583	missense	0				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.261C>G	12.37:g.49689244C>G	ENSP00000257860:p.Asn87Lys		Q5TFH5|Q6DK65	Missense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,prints_Keratin_I	p.N87K	ENST00000257860.4	37	c.261	CCDS8783.1	12	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192234	0.78902	.	.	ENSG00000135406	ENST00000257860;ENST00000451891	D	0.89681	-2.55	4.61	3.73	0.42828	Intermediate filament head, DNA-binding domain (1);	0.000000	0.43416	D	0.000572	D	0.93213	0.7838	M	0.80616	2.505	0.52501	D	0.999959	D	0.59357	0.985	D	0.67382	0.951	D	0.92943	0.6374	10	0.59425	D	0.04	.	10.4432	0.44477	0.0:0.9046:0.0:0.0954	.	87	P41219	PERI_HUMAN	K	87;6	ENSP00000257860:N87K	ENSP00000257860:N87K	N	+	3	2	PRPH	47975511	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.772000	0.62324	1.181000	0.42912	-0.251000	0.11542	AAC	PRPH	-	pfam_Intermed_filament_DNA-bd	ENSG00000135406		0.677	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPH	HGNC	protein_coding	OTTHUMT00000393381.1		0	26	0	C	NM_006262		49689244	1			no_errors	ENST00000257860	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	G	G	49689244	C	G	49689244	3	3	133	1	0	0	0	0	1	0	0	0	12618	506	18	5	263	5	PRPH	12	49689244	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	245407	49689244	84162651	306	34228											
ACCN2	41	genome.wustl.edu	37	chr12	50453616	50453616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaagccaacttccgcaGcttcaaacccaaacccttca	14	6	5	16	1	2	0	2	0	0	0	3	1	3	1	4	1	5	2	4	1	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:50453616G>T	ENST00000447966.2	+	3	666	c.437G>T	c.(436-438)aGc>aTc	p.S146I	ASIC1_ENST00000228468.4_Missense_Mutation_p.S146I	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	146					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)	AACTTCCGCAGCTTCAAACCC	0.562																																																	0													141	112	122					12																	50453616		2203	4300	6503	SO:0001583	missense	0			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.437G>T	12.37:g.50453616G>T	ENSP00000400228:p.Ser146Ile		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.S146I	ENST00000447966.2	37	c.437	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310428	0.23821	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.64085	-0.08;-0.08	5.03	5.03	0.67393	.	1.414340	0.04026	N	0.300518	T	0.62636	0.2444	L	0.59436	1.845	0.80722	D	1	B;B	0.20550	0.046;0.002	B;B	0.28709	0.093;0.009	T	0.44892	-0.9298	10	0.21014	T	0.42	-17.5621	9.6839	0.40087	0.1635:0.0:0.8365:0.0	.	146;146	P78348;P78348-1	ACCN2_HUMAN;.	I	146	ENSP00000228468:S146I;ENSP00000400228:S146I	ENSP00000228468:S146I	S	+	2	0	ACCN2	48739883	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.559000	0.45888	2.732000	0.93576	0.655000	0.94253	AGC	ASIC1	-	pfam_Na+channel_ASC	ENSG00000110881		0.562	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC1	HGNC	protein_coding	OTTHUMT00000406004.2	-	0	58	0	G	NM_020039		50453616	1	tier1	-	no_errors	ENST00000228468	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	T	T	50453616	G	T	50453616	3	4	133	1	0	0	0	0	1	0	0	0	129	971	34	3	443	3	ACCN2	12	50453616	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	764372	50453616	83398279	307	34229											
SLC4A8	9498	genome.wustl.edu	37	chr12	51865176	51865176	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagttcccttgtctgctaCattacccgtttcactgaaga	8	13	7	13	1	2	2	1	1	1	1	3	2	3	2	3	0	3	3	3	0	3	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:51865176C>G	ENST00000453097.2	+	14	1981	c.1764C>G	c.(1762-1764)taC>taG	p.Y588*	SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.Y535*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.Y535*|SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.Y535*|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.Y615*	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)		TTGTCTGCTACATTACCCGTT	0.453																																																	0													253	211	226					12																	51865176		2203	4300	6503	SO:0001587	stop_gained	0			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.1764C>G	12.37:g.51865176C>G	ENSP00000405812:p.Tyr588*			Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.Y588*	ENST00000453097.2	37	c.1764	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	C	39	7.397498	0.98258	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	.	.	.	5.33	1.43	0.22495	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2264	0.37410	0.0:0.6151:0.0:0.3849	.	.	.	.	X	535;615;588;535;588;535;535	.	ENSP00000315789:Y588X	Y	+	3	2	SLC4A8	50151443	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.610000	0.46325	0.339000	0.23719	0.563000	0.77884	TAC	SLC4A8	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000050438		0.453	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	-	0	98	0	C	NM_004858		51865176	1	tier1	-	no_errors	ENST00000453097	ensembl	human	known	74_37	nonsense	8.80	114	11	SNP	1.000	G	G	51865176	C	G	51865176	4	3	133	1	0	0	0	0	0	1	0	0	14704	489	17	5	1818	5	SLC4A8	12	51865176	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1411560	51865176	81986719	308	34230											
ACVRL1	94	genome.wustl.edu	37	chr12	52306268	52306268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagggaccatgaccttgGgctcccccaggaaaggcctt	8	7	12	14	0	0	1	0	1	0	0	1	3	1	3	5	4	1	2	5	4	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:52306268G>T	ENST00000388922.4	+	2	293	c.10G>T	c.(10-12)Ggc>Tgc	p.G4C	ACVRL1_ENST00000550683.1_Missense_Mutation_p.G18C|ACVRL1_ENST00000419526.2_Missense_Mutation_p.G18C	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	4					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)	CATGACCTTGGGCTCCCCCAG	0.582																																																	0													69	58	61					12																	52306268		2203	4300	6503	SO:0001583	missense	0			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.10G>T	12.37:g.52306268G>T	ENSP00000373574:p.Gly4Cys		A6NGA8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.G18C	ENST00000388922.4	37	c.52	CCDS31804.1	12	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145305	0.37825	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D;D	0.92545	-2.03;-3.06;-2.07;-2.19	5.28	2.41	0.29592	.	0.590250	0.14171	N	0.336719	T	0.81903	0.4921	N	0.08118	0	0.19300	N	0.999976	P;B	0.36086	0.536;0.39	B;B	0.36418	0.045;0.224	T	0.74665	-0.3589	10	0.72032	D	0.01	.	7.7188	0.28721	0.2673:0.0:0.7327:0.0	.	18;4	E7EN07;P37023	.;ACVL1_HUMAN	C	4;4;18;18;18;18	ENSP00000373574:G4C;ENSP00000446724:G18C;ENSP00000447884:G18C;ENSP00000392492:G18C	ENSP00000267008:G4C	G	+	1	0	ACVRL1	50592535	0.001000	0.12720	0.895000	0.35142	0.534000	0.34807	0.497000	0.22514	0.791000	0.33826	0.655000	0.94253	GGC	ACVRL1	-	NULL	ENSG00000139567		0.582	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVRL1	HGNC	protein_coding	OTTHUMT00000404520.2	-	0	61	0	G			52306268	1	tier1	-	no_errors	ENST00000550683	ensembl	human	known	74_37	missense	10.29	61	7	SNP	0.620	T	T	52306268	G	T	52306268	3	4	133	1	0	0	0	0	1	0	0	0	225	1232	43	3	12	3	ACVRL1	12	52306268	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	441092	52306268	81545627	309	34231											
KRT6C	286887	genome.wustl.edu	37	chr12	52867433	52867433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgctgctgaagccagagCggctgaccccagggagcctg	9	5	15	12	1	0	4	0	2	0	2	0	5	0	5	4	2	5	3	4	2	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:52867433C>G	ENST00000252250.6	-	1	136	c.89G>C	c.(88-90)cGc>cCc	p.R30P		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	30	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)		GAAGCCAGAGCGGCTGACCCC	0.652																																																	0													13	18	16					12																	52867433		2172	4244	6416	SO:0001583	missense	0			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.89G>C	12.37:g.52867433C>G	ENSP00000252250:p.Arg30Pro		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R30P	ENST00000252250.6	37	c.89	CCDS8829.1	12	.	.	.	.	.	.	.	.	.	.	c	13.48	2.249226	0.39797	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	T	0.71103	-0.54	3.02	1.13	0.20643	.	0.198415	0.35970	N	0.002867	T	0.74390	0.3710	M	0.85373	2.75	0.39580	D	0.969413	D	0.53885	0.963	P	0.49047	0.599	T	0.74884	-0.3512	10	0.62326	D	0.03	.	7.5241	0.27645	0.1646:0.743:0.0:0.0924	.	30	P48668	K2C6C_HUMAN	P	30;15	ENSP00000252250:R30P	ENSP00000252250:R30P	R	-	2	0	KRT6C	51153700	0.995000	0.38212	0.945000	0.38365	0.752000	0.42762	1.866000	0.39489	0.287000	0.22375	0.514000	0.50259	CGC	KRT6C	-	NULL	ENSG00000170465		0.652	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	HGNC	protein_coding	OTTHUMT00000404976.1	-	0	128	0	C	NM_173086		52867433	-1	tier1	-	no_errors	ENST00000252250	ensembl	human	known	74_37	missense	6.67	139	10	SNP	0.999	G	G	52867433	C	G	52867433	3	3	133	1	0	0	0	0	1	0	0	0	8509	768	27	5	1641	5	KRT6C	12	52867433	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	561165	52867433	80984462	310	34232											
KRT76	51350	genome.wustl.edu	37	chr12	53165004	53165004	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtctgcaggttggcattCtgaggtagaaaatcaattag	11	11	12	7	1	3	2	1	1	2	1	3	2	3	2	1	3	1	4	1	3	5	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:53165004C>A	ENST00000332411.2	-	7	1317		c.e7-1			NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76						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						GGTTGGCATTCTGAGGTAGAA	0.517																																																	0													87	80	82					12																	53165004		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1264-1G>T	12.37:g.53165004C>A			B4DRR3|Q7Z795	Splice_Site	SNP	-	e7-1	ENST00000332411.2	37	c.1264-1	CCDS8838.1	12	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163672	0.38217	.	.	ENSG00000185069	ENST00000332411	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4674	0.94948	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT76	51451271	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	7.118000	0.77137	2.768000	0.95171	0.655000	0.94253	.	KRT76	-	-	ENSG00000185069		0.517	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	HGNC	protein_coding	OTTHUMT00000405928.1	-	0	59	0	C	NM_015848	Intron	53165004	-1	tier1	-	no_errors	ENST00000332411	ensembl	human	known	74_37	splice_site	10.53	68	8	SNP	1.000	A	A	53165004	C	A	53165004	5	1	133	1	0	0	0	0	0	0	1	0	8516	927	32	3	665	3	KRT76	12	53165004	Splice_Site	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	297571	53165004	80686891	311	34233											
MYL6	4637	genome.wustl.edu	37	chr12	56552187	56552187	+	Splice_Site	SNP	T	T	C	0	1	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	ggagagctgagcagtcaagaTggtggggcccaggtcttggg	8	7	19	7	0	2	3	1	1	1	2	2	4	2	3	1	6	2	2	1	6	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:56552187T>C	ENST00000550697.1	+	1	243	c.2T>C	c.(1-3)aTg>aCg	p.M1T	MYL6_ENST00000547649.1_Splice_Site_p.M1T|MYL6_ENST00000536128.1_Start_Codon_SNP_p.M1T|MYL6_ENST00000548400.1_Splice_Site_p.M1T|MYL6_ENST00000348108.4_Splice_Site_p.M1T|MYL6_ENST00000548580.1_Splice_Site_p.M1T|MYL6_ENST00000551589.1_Splice_Site_p.M1T|MYL6_ENST00000548293.1_Splice_Site_p.M1T|MYL6_ENST00000547408.1_Splice_Site_p.M1T|MYL6_ENST00000549017.1_5'UTR|MYL6_ENST00000293422.5_Splice_Site_p.M1T|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000549566.1_Start_Codon_SNP_p.M1T	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	1					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GCAGTCAAGATGGTGGGGCCC	0.617																																																	0													53	48	50					12																	56552187		2203	4300	6503	SO:0001630	splice_region_variant	0			AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"Myosins / Light chain", "EF-hand domain containing"	7587	protein-coding gene	gene with protein product		609931	"myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.3+1T>C	12.37:g.56552187T>C			P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.M1T	ENST00000550697.1	37	c.2	CCDS8906.1	12	.	.	.	.	.	.	.	.	.	.	t	13.99	2.402688	0.42613	.	.	ENSG00000092841	ENST00000550697;ENST00000548580;ENST00000293422;ENST00000348108;ENST00000549566;ENST00000536128;ENST00000547649;ENST00000547408;ENST00000551589;ENST00000553056;ENST00000549392;ENST00000548400;ENST00000548293	T;T;T;T;T;T;T;T;T;T;T;T	0.76709	-0.8;-0.55;-0.77;-0.73;-1.04;-1.0;-0.85;-0.84;-0.82;-0.72;-0.7;-0.8	4.69	4.69	0.59074	.	0.344590	0.18986	U	0.125743	D	0.85461	0.5702	.	.	.	0.80722	D	1	D;P;B;B	0.54601	0.967;0.919;0.079;0.068	D;P;B;B	0.63597	0.916;0.667;0.046;0.087	D	0.86513	0.1811	9	0.87932	D	0	.	10.7348	0.46117	0.0:0.0:0.0:1.0	.	1;1;1;1	B7Z6Z4;P60660-2;P60660;F8W1R7	.;.;MYL6_HUMAN;.	T	1	ENSP00000446955:M1T;ENSP00000446640:M1T;ENSP00000293422:M1T;ENSP00000301540:M1T;ENSP00000446709:M1T;ENSP00000441750:M1T;ENSP00000446714:M1T;ENSP00000446721:M1T;ENSP00000446687:M1T;ENSP00000450116:M1T;ENSP00000448859:M1T;ENSP00000448101:M1T	ENSP00000293422:M1T	M	+	2	0	MYL6	54838454	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	3.413000	0.52686	2.104000	0.64026	0.454000	0.30748	ATG	MYL6	-	NULL	ENSG00000092841		0.617	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	MYL6	HGNC	protein_coding	OTTHUMT00000407928.3	-	0	56	0	T		Missense_Mutation	56552187	1	tier1	-	no_errors	ENST00000547649	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	C	C	56552187	T	C	56552187	5	2	133	1	0	0	0	0	0	0	1	0	10089	1478	51	4	4	4	MYL6	12	56552187	Splice_Site	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	3387183	56552187	77299708	312	34234											
PRIM1	5557	genome.wustl.edu	37	chr12	57132266	57132266	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcttcattctcctctttttCctcttcattagtggaaatgg	7	18	6	10	0	5	0	2	0	3	0	7	1	6	1	2	2	1	1	2	2	2	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:57132266C>A	ENST00000338193.6	-	11	1132	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	366					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						TCCTCTTTTTCCTCTTCATTA	0.348																																																	0													117	107	110					12																	57132266		1859	4102	5961	SO:0001587	stop_gained	0			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.1096G>T	12.37:g.57132266C>A	ENSP00000350491:p.Glu366*			Nonsense_Mutation	SNP	pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc	p.E366*	ENST00000338193.6	37	c.1096	CCDS44926.1	12	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379224	0.24944	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000549549	.	.	.	3.18	2.28	0.28536	.	0.454073	0.21706	N	0.070341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-4.7778	6.5196	0.22266	0.0:0.8584:0.0:0.1416	.	.	.	.	X	373;366;147	.	ENSP00000350491:E366X	E	-	1	0	PRIM1	55418533	0.290000	0.24343	0.681000	0.30009	0.403000	0.30841	0.520000	0.22878	0.668000	0.31126	-0.216000	0.12614	GAA	PRIM1	-	NULL	ENSG00000198056		0.348	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIM1	HGNC	protein_coding	OTTHUMT00000406956.1	-	0	51	0	C	NM_000946		57132266	-1	tier1	-	no_errors	ENST00000338193	ensembl	human	known	74_37	nonsense	15.00	51	9	SNP	0.977	A	A	57132266	C	A	57132266	4	1	133	1	0	0	0	0	0	1	0	0	12532	864	30	3	178	3	PRIM1	12	57132266	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	580079	57132266	76719629	313	34235											
LRP1	4035	genome.wustl.edu	37	chr12	57592327	57592327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagccgcagcgtcatcGtggacaccaagatcacatgg	10	6	12	13	3	2	1	2	0	0	1	4	2	3	2	3	3	2	1	3	3	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:57592327G>T	ENST00000243077.3	+	60	10016	c.9550G>T	c.(9550-9552)Gtg>Ttg	p.V3184L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3184					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)	CAGCGTCATCGTGGACACCAA	0.592																																																	0													95	70	78					12																	57592327		2203	4300	6503	SO:0001583	missense	0			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.9550G>T	12.37:g.57592327G>T	ENSP00000243077:p.Val3184Leu		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V3184L	ENST00000243077.3	37	c.9550	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862769	0.51482	.	.	ENSG00000123384	ENST00000243077	D	0.95690	-3.78	4.39	4.39	0.52855	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.191477	0.33553	N	0.004793	D	0.93284	0.7860	L	0.55017	1.72	0.80722	D	1	P	0.47034	0.889	B	0.42422	0.387	D	0.91805	0.5455	10	0.17832	T	0.49	.	16.2482	0.82460	0.0:0.0:1.0:0.0	.	3184	Q07954	LRP1_HUMAN	L	3184	ENSP00000243077:V3184L	ENSP00000243077:V3184L	V	+	1	0	LRP1	55878594	1.000000	0.71417	0.980000	0.43619	0.982000	0.71751	3.118000	0.50414	2.434000	0.82447	0.561000	0.74099	GTG	LRP1	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000123384		0.592	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2		0	45	0	G	NM_002332		57592327	1			no_errors	ENST00000243077	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.977	T	T	57592327	G	T	57592327	3	4	133	1	0	0	0	0	1	0	0	0	8986	1145	40	2	9788	2	LRP1	12	57592327	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	460061	57592327	76259568	314	34236											
C12orf66	144577	genome.wustl.edu	37	chr12	64609507	64609507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaggccaacgagctcttCagcattgatgaacttctgtg	12	10	9	10	1	3	2	1	2	2	0	3	3	3	2	1	1	4	2	1	1	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:64609507C>T	ENST00000398055.3	-	2	525	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	C12orf66_ENST00000311915.8_Missense_Mutation_p.E158K|C12orf66_ENST00000544871.1_Missense_Mutation_p.E105K	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	158										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						ACGAGCTCTTCAGCATTGATG	0.507																																																	0													76	73	74					12																	64609507		1989	4183	6172	SO:0001583	missense	0				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.472G>A	12.37:g.64609507C>T	ENSP00000381132:p.Glu158Lys		C9JX54|Q8IYA0	Missense_Mutation	SNP	pfam_DUF2003	p.E158K	ENST00000398055.3	37	c.472	CCDS41803.1	12	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557164	0.65425	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.39406	1.08;1.08;1.08	5.95	5.95	0.96441	.	0.044256	0.85682	D	0.000000	T	0.59459	0.2195	L	0.60455	1.87	0.80722	D	1	D;D	0.59767	0.982;0.986	P;P	0.58970	0.831;0.849	T	0.52675	-0.8544	9	.	.	.	-5.7342	20.3719	0.98893	0.0:1.0:0.0:0.0	.	105;158	F5H2Q3;Q96MD2	.;CL066_HUMAN	K	158;105;158	ENSP00000311486:E158K;ENSP00000445481:E105K;ENSP00000381132:E158K	.	E	-	1	0	C12orf66	62895774	1.000000	0.71417	0.865000	0.33974	0.732000	0.41865	7.518000	0.81795	2.826000	0.97356	0.491000	0.48974	GAA	C12orf66	-	pfam_DUF2003	ENSG00000174206		0.507	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	-	0	70	0	C	NM_152440		64609507	-1	tier1	-	no_errors	ENST00000398055	ensembl	human	known	74_37	missense	5.81	81	5	SNP	1.000	T	T	64609507	C	T	64609507	3	4	133	1	0	0	0	0	1	0	0	0	1714	835	29	3	873	3	C12orf66	12	64609507	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	7017180	64609507	69242388	315	34237											
NUP107	57122	genome.wustl.edu	37	chr12	69083376	69083376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccaggttatccctcgaaCtcctagctcatttcgacagc	11	10	6	14	2	1	0	1	0	0	0	5	2	3	0	3	1	4	2	3	1	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:69083376C>T	ENST00000229179.4	+	3	496	c.164C>T	c.(163-165)aCt>aTt	p.T55I	RP11-637A17.2_ENST00000500695.2_lincRNA|NUP107_ENST00000539906.1_Missense_Mutation_p.L17F|NUP107_ENST00000378905.2_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	55					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ATCCCTCGAACTCCTAGCTCA	0.313																																																	0													111	109	109					12																	69083376		2203	4300	6503	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.164C>T	12.37:g.69083376C>T	ENSP00000229179:p.Thr55Ile		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.T55I	ENST00000229179.4	37	c.164	CCDS8985.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.87|16.87	3.243337|3.243337	0.58995|0.58995	.|.	.|.	ENSG00000111581|ENSG00000111581	ENST00000539906|ENST00000229179	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.096296	.|0.64402	.|D	.|0.000001	T|T	0.57344|0.57344	0.2047|0.2047	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B|B	0.26258|0.20052	0.145|0.041	B|B	0.28011|0.17979	0.085|0.02	T|T	0.51513|0.51513	-0.8696|-0.8696	7|8	.|.	.|.	.|.	-24.0094|-24.0094	15.1663|15.1663	0.72828|0.72828	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	17|55	B4DZ67|P57740	.|NU107_HUMAN	F|I	17|55	.|.	.|.	L|T	+|+	1|2	0|0	NUP107|NUP107	67369643|67369643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.763000|1.763000	0.38461|0.38461	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	CTC|ACT	NUP107	-	NULL	ENSG00000111581		0.313	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1		0	45	0	C	NM_020401		69083376	1			no_errors	ENST00000229179	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	69083376	C	T	69083376	3	4	133	1	0	0	0	0	1	0	0	0	10792	565	20	3	174	3	NUP107	12	69083376	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	4473869	69083376	64768519	316	34238											
PTPRB	5787	genome.wustl.edu	37	chr12	70986244	70986244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tattgtaagaatccacatttCcaggaggtctttgccatttg	10	15	8	8	0	1	1	0	0	1	1	3	2	3	2	3	2	1	1	3	2	3	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:70986244C>T	ENST00000261266.5	-	5	973	c.944G>A	c.(943-945)gGa>gAa	p.G315E	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.G533E|PTPRB_ENST00000551525.1_Missense_Mutation_p.G532E|PTPRB_ENST00000550857.1_Missense_Mutation_p.G315E|PTPRB_ENST00000334414.6_Missense_Mutation_p.G533E|PTPRB_ENST00000451516.2_Missense_Mutation_p.G315E|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315E	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	315	Fibronectin type-III 4. {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)			ATCCACATTTCCAGGAGGTCT	0.413																																																	0													64	59	60					12																	70986244		1852	4099	5951	SO:0001583	missense	0			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.944G>A	12.37:g.70986244C>T	ENSP00000261266:p.Gly315Glu		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G533E	ENST00000261266.5	37	c.1598	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817592	0.90790	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	M	0.88105	2.93	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.17776	-1.0358	10	0.51188	T	0.08	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	315;315;412;533;532;533;315;533	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	E	533;315;533;533;315;315;315;532;412	ENSP00000334928:G533E;ENSP00000393028:G315E;ENSP00000448058:G533E;ENSP00000438927:G315E;ENSP00000447302:G315E;ENSP00000261266:G315E;ENSP00000448349:G532E;ENSP00000446982:G412E	ENSP00000261266:G315E	G	-	2	0	PTPRB	69272511	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.677000	0.68142	2.832000	0.97577	0.655000	0.94253	GGA	PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000127329		0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	-	0	30	0	C			70986244	-1	tier1	-	no_errors	ENST00000334414	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.997	T	T	70986244	C	T	70986244	3	4	133	1	0	0	0	0	1	0	0	0	12841	855	30	3	5161	3	PTPRB	12	70986244	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1902868	70986244	62865651	317	34239											
TRHDE	29953	genome.wustl.edu	37	chr12	72866848	72866848	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaattttgttactgcagtGgtttggtgaccttgtgacgc	7	17	11	6	1	0	2	0	2	0	0	0	2	0	2	1	2	2	3	1	2	2	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:72866848G>T	ENST00000261180.4	+	5	1433	c.1337G>T	c.(1336-1338)tGg>tTg	p.W446L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	446					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						TTACTGCAGTGGTTTGGTGAC	0.363																																																	0													258	243	248					12																	72866848		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1336-1G>T	12.37:g.72866848G>T			A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.W446L	ENST00000261180.4	37	c.1337	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.129253	0.94473	.	.	ENSG00000072657	ENST00000261180	T	0.47177	0.85	5.15	5.15	0.70609	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76414	0.3984	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82703	-0.0326	10	0.87932	D	0	.	18.629	0.91352	0.0:0.0:1.0:0.0	.	446	Q9UKU6	TRHDE_HUMAN	L	446	ENSP00000261180:W446L	ENSP00000261180:W446L	W	+	2	0	TRHDE	71153115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.800000	0.99124	2.400000	0.81607	0.650000	0.86243	TGG	TRHDE	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000072657		0.363	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	82	0	G	NM_013381	Missense_Mutation	72866848	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	9.80	92	10	SNP	1.000	T	T	72866848	G	T	72866848	5	4	133	1	0	0	0	0	0	0	1	0	16527	1362	47	3	1355	3	TRHDE	12	72866848	Splice_Site	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1880604	72866848	60985047	318	34240											
PPFIA2	8499	genome.wustl.edu	37	chr12	81762631	81762631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcattttctctctttgcCtagccttacattttaaaaaa	11	18	2	10	0	3	0	1	0	2	0	4	0	3	0	2	0	3	0	2	0	5	8			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:81762631C>A	ENST00000549396.1	-	13	1515	c.1355G>T	c.(1354-1356)aGg>aTg	p.R452M	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R452M|PPFIA2_ENST00000541017.1_De_novo_Start_OutOfFrame|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R353M|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R378M|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R19M|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R299M|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R452M|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R452M|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R434M|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R434M	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	452	Glu-rich.				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						CTCTCTTTGCCTAGCCTTACA	0.303																																																	0													188	169	175					12																	81762631		1807	4087	5894	SO:0001583	missense	0			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.1355G>T	12.37:g.81762631C>A	ENSP00000450337:p.Arg452Met		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R452M	ENST00000549396.1	37	c.1355	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496716	0.64186	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058;ENST00000548670	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;1.56;0.97;0.97;0.97;0.97;0.97;0.97	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	M	0.84773	2.715	0.80722	D	1	P	0.50943	0.94	B	0.41723	0.365	T	0.65261	-0.6211	10	0.62326	D	0.03	-17.4348	19.4993	0.95086	0.0:1.0:0.0:0.0	.	452	O75334	LIPA2_HUMAN	M	452;434;19;378;463;434;452;353;452;33;19	ENSP00000450337:R452M;ENSP00000450298:R434M;ENSP00000438337:R19M;ENSP00000385093:R378M;ENSP00000327416:R434M;ENSP00000449338:R452M;ENSP00000388373:R353M;ENSP00000447868:R452M;ENSP00000448941:R33M	ENSP00000327416:R434M	R	-	2	0	PPFIA2	80286762	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.818000	0.86416	2.687000	0.91594	0.563000	0.77884	AGG	PPFIA2	-	NULL	ENSG00000139220		0.303	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0	74	0	C			81762631	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	9.28	88	9	SNP	1.000	A	A	81762631	C	A	81762631	3	1	133	1	0	0	0	0	1	0	0	0	12349	681	24	3	2498	3	PPFIA2	12	81762631	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	8895783	81762631	52089264	319	34241											
ATP2B1	490	genome.wustl.edu	37	chr12	89998032	89998032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctgtcatagacatttcgtCcccacataactgctttaaca	11	13	5	12	1	1	1	1	0	0	1	3	1	2	1	2	0	4	2	2	0	3	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:89998032C>T	ENST00000428670.3	-	16	2990	c.2534G>A	c.(2533-2535)gGa>gAa	p.G845E	ATP2B1_ENST00000348959.3_Missense_Mutation_p.G845E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G845E|ATP2B1_ENST00000393164.2_Missense_Mutation_p.G588E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.G845E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	845					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						GACATTTCGTCCCCACATAAC	0.388																																																	0													122	114	117					12																	89998032		2203	4300	6503	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2534G>A	12.37:g.89998032C>T	ENSP00000392043:p.Gly845Glu		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.G845E	ENST00000428670.3	37	c.2534	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914403	0.92178	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.98028	-4.67;-4.67;-4.67;-4.67;-4.53	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	H	0.99884	4.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.97620	1.0135	10	0.87932	D	0	-20.5297	20.3046	0.98621	0.0:1.0:0.0:0.0	.	845;845;845	P20020-3;P20020-2;P20020-6	.;.;.	E	845;845;845;845;588	ENSP00000261173:G845E;ENSP00000343599:G845E;ENSP00000352054:G845E;ENSP00000392043:G845E;ENSP00000376869:G588E	ENSP00000261173:G845E	G	-	2	0	ATP2B1	88522163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.878000	0.98634	0.650000	0.86243	GGA	ATP2B1	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000070961		0.388	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	-	0	68	0	C	NM_001682		89998032	-1	tier1	-	no_errors	ENST00000261173	ensembl	human	known	74_37	missense	10.75	83	10	SNP	1.000	T	T	89998032	C	T	89998032	3	4	133	1	0	0	0	0	1	0	0	0	1140	855	30	3	1310	3	ATP2B1	12	89998032	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	8235401	89998032	43853863	320	34242											
C12orf12	196477	genome.wustl.edu	37	chr12	91348442	91348442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaaggaggccgagtgtgcCcagccacagccacagccgcc	9	3	12	17	2	1	0	1	0	0	0	1	2	1	1	6	2	4	0	6	2	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:91348442C>G	ENST00000358859.2	-	1	511	c.78G>C	c.(76-78)tgG>tgC	p.W26C	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	26																	CCGAGTGTGCCCAgccacagc	0.652																																																	0													9	8	8					12																	91348442		2147	4220	6367	SO:0001583	missense	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.78G>C	12.37:g.91348442C>G	ENSP00000351727:p.Trp26Cys		Q8TC47	Missense_Mutation	SNP	NULL	p.W26C	ENST00000358859.2	37	c.78	CCDS9036.1	12	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035695	0.54896	.	.	ENSG00000197651	ENST00000358859	T	0.35048	1.33	5.08	4.2	0.49525	.	0.000000	0.32328	N	0.006251	T	0.42653	0.1212	N	0.24115	0.695	0.52501	D	0.99995	D	0.89917	1.0	D	0.80764	0.994	T	0.40961	-0.9535	10	0.87932	D	0	-6.4946	9.5742	0.39447	0.0:0.9051:0.0:0.0949	.	26	Q8TC90	CL012_HUMAN	C	26	ENSP00000351727:W26C	ENSP00000351727:W26C	W	-	3	0	C12orf12	89872573	0.880000	0.30214	0.790000	0.31976	0.054000	0.15201	1.208000	0.32345	1.381000	0.46364	-0.448000	0.05591	TGG	CCER1	-	NULL	ENSG00000197651		0.652	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2	-	0	38	0	C	NM_152638		91348442	-1	tier1	-	no_errors	ENST00000358859	ensembl	human	known	74_37	missense	12.50	42	6	SNP	0.889	G	G	91348442	C	G	91348442	3	3	133	1	0	0	0	0	1	0	0	0	1681	624	22	5	1146	5	C12orf12	12	91348442	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1350410	91348442	42503453	321	34243											
C12orf74	338809	genome.wustl.edu	37	chr12	93100603	93100605	+	Missense_Mutation	TNP	TGG	TGG	ATT																															gtgggacaaggcaggatgccTggcaggtgaccacctgggga																										TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T|G|G	T|G|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:93100603_93100605TGG>ATT	ENST00000397833.3	+	2	647_649	c.196_198TGG>ATT	c.(196-198)TGG>ATT	p.W66I	C12orf74_ENST00000544406.2_Missense_Mutation_p.W66I	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	66										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GCAGGATGCCTGGCAGGTGACCA	0.596																																																	0																																										SO:0001583	missense	0			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.196_198TGG>ATT	12.37:g.93100603TGG>ATT	ENSP00000380933:p.Trp66Ile		F5H4P0	Missense_Mutation	SNP	NULL	p.W66R|p.W66L|p.W66C	ENST00000397833.3	37	c.196|c.197|c.198	CCDS41819.1	12																																																																																			C12orf74	-	NULL	ENSG00000214215		0.596	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C12orf74	HGNC	protein_coding	OTTHUMT00000407285.1	-	0	42|41|41	0	T|G|G	NM_001037671		93100603|93100604|93100605	1	tier1	-	no_errors	ENST00000397833	ensembl	human	known	74_37	missense	11.76|11.90|12.05	75|74|73	10	SNP	0.020|0.008|0.002	A|T|T	ATT	93100605	TGG	ATT	93100603	3	1	133	1	0	0	0	0	1	0	0	0	1719	1580	55	5	198	5	C12orf74	12	93100603	Missense_Mutation	TNP	TGG	TCGA-LN-A9FP-01A-31D-A387-09	1752161	93100603	40751292	322	34244											
C12orf42	374470	genome.wustl.edu	37	chr12	103872154	103872154	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttgcaaaaggtctgatGgttagcaagaattcttcttc	10	15	9	7	0	3	2	0	1	3	1	4	2	3	2	0	2	2	4	0	2	5	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:103872154G>C	ENST00000378113.2	-	2	276	c.51C>G	c.(49-51)acC>acG	p.T17T	C12orf42_ENST00000315192.8_Silent_p.T17T|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Silent_p.T17T	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	17										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AAGGTCTGATGGTTAGCAAGA	0.338																																																	0													164	147	153					12																	103872154		1865	4086	5951	SO:0001819	synonymous_variant	0			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.51C>G	12.37:g.103872154G>C			Q49A64|Q4G0S2	Silent	SNP	NULL	p.T17	ENST00000378113.2	37	c.51	CCDS44963.1	12																																																																																			C12orf42	-	NULL	ENSG00000179088		0.338	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf42	HGNC	protein_coding	OTTHUMT00000406754.1		0	24	0	G	NM_198521		103872154	-1			no_errors	ENST00000378113	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.049	C	C	103872154	G	C	103872154	2	2	133	1	0	0	0	0	0	0	0	1	1693	1335	47	5		5	C12orf42	12	103872154	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	10771551	103872154	29979741	323	34245											
IFT81	28981	genome.wustl.edu	37	chr12	110628806	110628806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtatctgcactgaagagtGaagttgatgaaatgaaagga	16	9	13	3	0	1	6	0	5	1	1	1	8	1	7	0	1	1	3	0	1	5	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:110628806G>A	ENST00000242591.5	+	13	1926	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	IFT81_ENST00000552912.1_Missense_Mutation_p.E474K	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	474					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						ACTGAAGAGTGAAGTTGATGA	0.333																																																	0													122	117	119					12																	110628806		1863	4107	5970	SO:0001583	missense	0			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.1420G>A	12.37:g.110628806G>A	ENSP00000242591:p.Glu474Lys		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.E474K	ENST00000242591.5	37	c.1420	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.336489	0.95758	.	.	ENSG00000122970	ENST00000552912;ENST00000242591	T;T	0.15834	2.39;2.39	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.70595	2.14	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.09618	-1.0666	10	0.37606	T	0.19	-20.9981	18.8013	0.92018	0.0:0.0:1.0:0.0	.	474	Q8WYA0	IFT81_HUMAN	K	474	ENSP00000449718:E474K;ENSP00000242591:E474K	ENSP00000242591:E474K	E	+	1	0	IFT81	109113189	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	9.273000	0.95719	2.509000	0.84616	0.655000	0.94253	GAA	IFT81	-	NULL	ENSG00000122970		0.333	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	-	0	67	0	G	NM_014055		110628806	1	tier1	-	no_errors	ENST00000242591	ensembl	human	known	74_37	missense	9.35	97	10	SNP	1.000	A	A	110628806	G	A	110628806	3	1	133	1	0	0	0	0	1	0	0	0	7592	1291	45	3	1578	3	IFT81	12	110628806	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	6756652	110628806	23223089	324	34246											
ATXN2	6311	genome.wustl.edu	37	chr12	111990213	111990213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtacttttctcatgtgCggcatcaagtaccaaatcac	10	14	6	11	1	4	0	3	0	2	0	5	0	4	0	1	1	3	3	1	1	4	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:111990213C>G	ENST00000377617.3	-	5	1083	c.922G>C	c.(922-924)Gca>Cca	p.A308P	ATXN2_ENST00000542287.2_Missense_Mutation_p.A43P|ATXN2_ENST00000608853.1_Missense_Mutation_p.A148P|ATXN2_ENST00000389153.4_Missense_Mutation_p.A43P|ATXN2_ENST00000535949.1_Missense_Mutation_p.A19P|ATXN2_ENST00000549455.1_Intron|ATXN2_ENST00000550104.1_Missense_Mutation_p.A308P	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	308					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						TTCTCATGTGCGGCATCAAGT	0.348																																																	0													78	78	78					12																	111990213		2203	4300	6503	SO:0001583	missense	0			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.922G>C	12.37:g.111990213C>G	ENSP00000366843:p.Ala308Pro		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.A308P	ENST00000377617.3	37	c.922	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650990	0.87958	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000548492	T;T;T;T;T	0.70631	0.69;-0.45;-0.5;0.69;0.69	5.54	5.54	0.83059	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	D	0.82393	0.5027	L	0.56769	1.78	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	0.79553	-0.1756	10	0.36615	T	0.2	-10.8382	19.8254	0.96616	0.0:1.0:0.0:0.0	.	43;308;19;43	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	P	43;308;308;43;19;51	ENSP00000373805:A43P;ENSP00000366843:A308P;ENSP00000446576:A308P;ENSP00000445583:A43P;ENSP00000449566:A51P	ENSP00000366843:A308P	A	-	1	0	ATXN2	110474596	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.105000	0.77031	2.754000	0.94517	0.655000	0.94253	GCA	ATXN2	-	superfamily_LSM_dom	ENSG00000204842		0.348	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	-	0	82	0	C	NM_002973		111990213	-1	tier1	-	no_errors	ENST00000377617	ensembl	human	known	74_37	missense	5.45	104	6	SNP	1.000	G	G	111990213	C	G	111990213	3	3	133	1	0	0	0	0	1	0	0	0	1212	768	27	5	3103	5	ATXN2	12	111990213	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1361407	111990213	21861682	325	34247											
C12orf51	283450	genome.wustl.edu	37	chr12	112673449	112673449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgtttccacagtcttctaCgctcatcaggggcagcgccg	7	9	10	15	4	4	0	2	0	2	0	5	0	5	0	2	2	2	3	2	2	1	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:112673449C>T	ENST00000430131.2	-	35	5463	c.4318G>A	c.(4318-4320)Gta>Ata	p.V1440I	HECTD4_ENST00000550722.1_Missense_Mutation_p.V1716I|HECTD4_ENST00000377560.5_Missense_Mutation_p.V1690I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1440					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)										CAGTCTTCTACGCTCATCAGG	0.582																																																	0													48	50	49					12																	112673449		1968	4159	6127	SO:0001583	missense	0			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.4318G>A	12.37:g.112673449C>T	ENSP00000404379:p.Val1440Ile		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.V1690I	ENST00000430131.2	37	c.5068		12	.	.	.	.	.	.	.	.	.	.	C	35	5.490833	0.96339	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.52983	0.64;0.65;0.64	6.03	6.03	0.97812	.	.	.	.	.	T	0.54159	0.1841	N	0.19112	0.55	0.80722	D	1	D	0.54772	0.968	P	0.59221	0.854	T	0.56848	-0.7911	9	0.72032	D	0.01	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1440	Q9Y4D8	K0614_HUMAN	I	1690;1440;1716	ENSP00000366783:V1690I;ENSP00000404379:V1440I;ENSP00000449784:V1716I	ENSP00000366783:V1690I	V	-	1	0	C12orf51	111157832	1.000000	0.71417	0.876000	0.34364	0.865000	0.49528	7.400000	0.79949	2.854000	0.98071	0.655000	0.94253	GTA	HECTD4	-	NULL	ENSG00000173064		0.582	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	61	0	C	NM_173813		112673449	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	6.06	61	4	SNP	1.000	T	T	112673449	C	T	112673449	3	4	133	1	0	0	0	0	1	0	0	0	1701	536	19	1	7836	1	C12orf51	12	112673449	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	683236	112673449	21178446	326	34248											
RPH3A	22895	genome.wustl.edu	37	chr12	113312942	113312942	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctgccccaggctcggtgCagagcccagcgccacctcag	7	4	12	18	2	1	1	1	0	0	1	2	2	1	1	6	2	4	2	6	2	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:113312942C>T	ENST00000389385.4	+	11	1347	c.850C>T	c.(850-852)Cag>Tag	p.Q284*	RPH3A_ENST00000420983.2_Nonsense_Mutation_p.Q284*|RPH3A_ENST00000447659.2_Nonsense_Mutation_p.Q235*|RPH3A_ENST00000551052.1_Nonsense_Mutation_p.Q280*|RPH3A_ENST00000415485.3_Nonsense_Mutation_p.Q284*|RPH3A_ENST00000543106.2_Nonsense_Mutation_p.Q284*|RPH3A_ENST00000548866.1_Nonsense_Mutation_p.Q235*|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	284	Pro-rich.				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)		AGGCTCGGTGCAGAGCCCAGC	0.602																																																	0													11	13	12					12																	113312942		2195	4289	6484	SO:0001587	stop_gained	0			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.850C>T	12.37:g.113312942C>T	ENSP00000374036:p.Gln284*		B7Z3C3|Q96AE0	Nonsense_Mutation	SNP	pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.Q284*	ENST00000389385.4	37	c.850	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.669477	0.96754	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	.	.	.	5.2	5.2	0.72013	.	0.392142	0.21341	N	0.076134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	16.228	0.82311	0.0:1.0:0.0:0.0	.	.	.	.	X	284;284;235;280;284;235;284	.	ENSP00000374036:Q284X	Q	+	1	0	RPH3A	111797325	0.981000	0.34729	0.966000	0.40874	0.513000	0.34164	2.447000	0.44917	2.428000	0.82296	0.460000	0.39030	CAG	RPH3A	-	NULL	ENSG00000089169		0.602	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	-	0	58	0	C	NM_014954		113312942	1	tier1	-	no_errors	ENST00000389385	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	0.999	T	T	113312942	C	T	113312942	4	4	133	1	0	0	0	0	0	1	0	0	13596	711	25	3	884	3	RPH3A	12	113312942	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	639493	113312942	20538953	327	34249											
HIP1R	9026	genome.wustl.edu	37	chr12	123344997	123344997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcagcaggaattttacGccaagaactcgcgctggacc	11	6	10	14	4	0	1	0	0	0	1	1	3	0	3	3	2	3	3	3	2	4	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr12:123344997G>A	ENST00000253083.4	+	27	2712	c.2587G>A	c.(2587-2589)Gcc>Acc	p.A863T		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	863	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGAATTTTACGCCAAGAACTC	0.642											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													57	64	62					12																	123344997		2203	4300	6503	SO:0001583	missense	0			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2587G>A	12.37:g.123344997G>A	ENSP00000253083:p.Ala863Thr	1526	A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom	p.A863T	ENST00000253083.4	37	c.2587	CCDS31922.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.027273	0.97216	.	.	ENSG00000130787	ENST00000253083	T	0.44083	0.93	5.33	5.33	0.75918	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.60012	1.86	0.80722	D	1	D	0.53745	0.962	P	0.49140	0.601	T	0.42085	-0.9472	10	0.29301	T	0.29	-26.4801	18.63	0.91357	0.0:0.0:1.0:0.0	.	863	O75146	HIP1R_HUMAN	T	863	ENSP00000253083:A863T	ENSP00000253083:A863T	A	+	1	0	HIP1R	121910950	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	9.760000	0.98935	2.486000	0.83907	0.655000	0.94253	GCC	HIP1R	-	pfam_ILWEQ_dom,smart_ILWEQ_dom,pfscan_ILWEQ_dom	ENSG00000130787		0.642	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1R	HGNC	protein_coding	OTTHUMT00000400935.1	-	0	53	0	G	NM_003959		123344997	1	tier1	-	no_errors	ENST00000253083	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	123344997	G	A	123344997	3	1	133	1	0	0	0	0	1	0	0	0	7142	1087	38	1	2693	1	HIP1R	12	123344997	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	10032055	123344997	10506898	328	34250											
PABPC3	5042	genome.wustl.edu	37	chr13	25670529	25670529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccagcatacgaaggacGcggagcatgctctggacacc	11	6	11	13	3	1	0	0	0	1	0	2	4	2	3	2	3	4	3	2	3	2	2	rs143942354		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr13:25670529G>A	ENST00000281589.3	+	1	230	c.193G>A	c.(193-195)Gcg>Acg	p.A65T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	65	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TACGAAGGACGCGGAGCATGC	0.537																																																	0													87	77	81					13																	25670529		2203	4300	6503	SO:0001583	missense	0			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.193G>A	13.37:g.25670529G>A	ENSP00000281589:p.Ala65Thr		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.A65T	ENST00000281589.3	37	c.193	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617463	0.66787	.	.	ENSG00000151846	ENST00000281589	T	0.30714	1.52	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.44688	U	0.000427	T	0.47173	0.1431	M	0.93808	3.46	0.46981	D	0.999274	D	0.63046	0.992	P	0.50082	0.63	T	0.55503	-0.8131	10	0.87932	D	0	.	6.848	0.23998	1.0E-4:0.0:0.9999:0.0	.	65	Q9H361	PABP3_HUMAN	T	65	ENSP00000281589:A65T	ENSP00000281589:A65T	A	+	1	0	PABPC3	24568529	1.000000	0.71417	0.024000	0.17045	0.163000	0.22366	6.590000	0.74085	0.558000	0.29135	0.305000	0.20034	GCG	PABPC3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000151846		0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	-	0	90	0	G	NM_030979		25670529	1	tier1	-	no_errors	ENST00000281589	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	A	A	25670529	G	A	25670529	3	1	133	1	0	0	0	0	1	0	0	0	11404	1087	38	1	195	1	PABPC3	13	25670529	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09		25670529	89499349	329	34251											
WASF3	10810	genome.wustl.edu	37	chr13	27256798	27256798	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccggaccacctcctccGccacctcctcctgtgattcc	5	9	5	22	2	0	1	0	1	0	0	6	2	6	2	11	1	0	0	11	1	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr13:27256798G>T	ENST00000335327.5	+	9	1216	c.1038G>T	c.(1036-1038)ccG>ccT	p.P346P	WASF3_ENST00000361042.4_Silent_p.P343P	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	346	Poly-Pro.				actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CACCTCCTCCGCCACCTCCTC	0.577																																																	0													185	170	175					13																	27256798		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1038G>T	13.37:g.27256798G>T			O94974|Q86VQ2	Silent	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P346	ENST00000335327.5	37	c.1038	CCDS9318.1	13																																																																																			WASF3	-	NULL	ENSG00000132970		0.577	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	-	0	99	0	G			27256798	1	tier1	-	no_errors	ENST00000335327	ensembl	human	known	74_37	silent	8.73	115	11	SNP	0.001	T	T	27256798	G	T	27256798	2	4	133	1	0	0	0	0	0	0	0	1	17303	1074	38	2		2	WASF3	13	27256798	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1586269	27256798	87913080	330	34252											
MTUS2	23281	genome.wustl.edu	37	chr13	29599324	29599324	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgttcccaaggataaactGgcaaagacccttgacaatga	15	8	8	10	0	0	3	0	2	0	1	1	4	1	4	2	2	1	2	2	2	5	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr13:29599324G>T	ENST00000431530.3	+	1	577	c.519G>T	c.(517-519)ctG>ctT	p.L173L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	163						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGGATAAACTGGCAAAGACCC	0.517																																																	0													86	88	87					13																	29599324		2018	4196	6214	SO:0001819	synonymous_variant	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.519G>T	13.37:g.29599324G>T			A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	NULL	p.L173	ENST00000431530.3	37	c.519	CCDS45022.1	13																																																																																			MTUS2	-	NULL	ENSG00000132938		0.517	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	-	0	50	0	G	XM_166270		29599324	1	tier1	-	no_errors	ENST00000431530	ensembl	human	known	74_37	silent	12.77	41	6	SNP	0.146	T	T	29599324	G	T	29599324	2	4	133	1	0	0	0	0	0	0	0	1	10004	1335	47	3		3	MTUS2	13	29599324	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2342526	29599324	85570554	331	34253											
FRY	10129	genome.wustl.edu	37	chr13	32812001	32812001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagtgggccgacttctccgGgctgcagcagctgctgctga	6	8	15	12	2	1	1	0	1	1	0	2	3	1	1	2	2	5	6	2	2	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr13:32812001G>T	ENST00000380250.3	+	44	6792	c.6296G>T	c.(6295-6297)gGg>gTg	p.G2099V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2099						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)		GACTTCTCCGGGCTGCAGCAG	0.537																																																	0													62	67	65					13																	32812001		2009	4171	6180	SO:0001583	missense	0			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.6296G>T	13.37:g.32812001G>T	ENSP00000369600:p.Gly2099Val		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G2099V	ENST00000380250.3	37	c.6296	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778414	0.90195	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.48836	0.8	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73949	-0.3821	10	0.66056	D	0.02	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	2099	Q5TBA9	FRY_HUMAN	V	2099;936	ENSP00000369600:G2099V	ENSP00000369600:G2099V	G	+	2	0	FRY	31710001	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	9.837000	0.99465	2.861000	0.98227	0.655000	0.94253	GGG	FRY	-	superfamily_ARM-type_fold	ENSG00000073910		0.537	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	-	0	29	0	G	NM_023037		32812001	1	tier1	-	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	32812001	G	T	32812001	3	4	133	1	0	0	0	0	1	0	0	0	6087	1232	43	3	6470	3	FRY	13	32812001	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3212677	32812001	82357877	332	34254											
RFC3	5983	genome.wustl.edu	37	chr13	34410426	34410426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggattggaaggcatgatGttctgacttctgtcagttat	9	15	12	5	0	3	2	1	2	2	0	3	5	3	4	0	3	0	3	0	3	2	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr13:34410426G>T	ENST00000380071.3	+	9	1195	c.1065G>T	c.(1063-1065)atG>atT	p.M355I	RFC3_ENST00000434425.1_Intron	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	355					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|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)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AAGGCATGATGTTCTGACTTC	0.373																																																	0													169	161	164					13																	34410426		2203	4299	6502	SO:0001583	missense	0				CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.1065G>T	13.37:g.34410426G>T	ENSP00000369411:p.Met355Ile		C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.M355I	ENST00000380071.3	37	c.1065	CCDS9352.1	13	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622004	0.28889	.	.	ENSG00000133119	ENST00000380071	T	0.40476	1.03	5.22	3.44	0.39384	.	0.069735	0.85682	N	0.000000	T	0.20088	0.0483	N	0.08118	0	0.80722	D	1	B	0.14805	0.011	B	0.06405	0.002	T	0.05053	-1.0909	10	0.12766	T	0.61	-11.7371	10.1955	0.43051	0.1671:0.0:0.8329:0.0	.	355	P40938	RFC3_HUMAN	I	355	ENSP00000369411:M355I	ENSP00000369411:M355I	M	+	3	0	RFC3	33308426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.092000	0.50207	0.664000	0.31047	0.655000	0.94253	ATG	RFC3	-	NULL	ENSG00000133119		0.373	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC3	HGNC	protein_coding	OTTHUMT00000044450.2	-	0	54	0	G	NM_002915		34410426	1	tier1	-	no_errors	ENST00000380071	ensembl	human	known	74_37	missense	7.41	75	6	SNP	1.000	T	T	34410426	G	T	34410426	3	4	133	1	0	0	0	0	1	0	0	0	13291	1377	48	3	1099	3	RFC3	13	34410426	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1598425	34410426	80759452	333	34255											
TRPC4	7223	genome.wustl.edu	37	chr13	38357272	38357272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagttcttccgagaggatCaatgcaattaatattgattt	13	14	8	6	1	2	2	1	1	1	1	3	4	3	3	1	1	2	3	1	1	4	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr13:38357272C>T	ENST00000379705.3	-	2	1056	c.199G>A	c.(199-201)Gat>Aat	p.D67N	TRPC4_ENST00000355779.2_Missense_Mutation_p.D67N|TRPC4_ENST00000358477.2_Missense_Mutation_p.D67N|TRPC4_ENST00000338947.5_Missense_Mutation_p.D67N|TRPC4_ENST00000379681.3_Missense_Mutation_p.D67N|TRPC4_ENST00000447043.1_Missense_Mutation_p.D67N|TRPC4_ENST00000379679.1_Missense_Mutation_p.D67N|TRPC4_ENST00000426868.2_Missense_Mutation_p.D67N|TRPC4_ENST00000379673.2_Missense_Mutation_p.D67N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	67					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ccgagaggatcaatgcaatta	0.373																																																	0													94	98	97					13																	38357272		2203	4300	6503	SO:0001583	missense	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.199G>A	13.37:g.38357272C>T	ENSP00000369027:p.Asp67Asn		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.D67N	ENST00000379705.3	37	c.199	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	C	34	5.335793	0.95758	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	6.01	6.01	0.97437	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	L	0.39020	1.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.996;0.996;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.993;0.993;0.999;1.0	T	0.60439	-0.7263	10	0.36615	T	0.2	-33.756	20.5211	0.99222	0.0:1.0:0.0:0.0	.	67;67;67;67;67;67	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	N	67	ENSP00000369027:D67N;ENSP00000369003:D67N;ENSP00000342580:D67N;ENSP00000369001:D67N;ENSP00000410133:D67N;ENSP00000348025:D67N;ENSP00000351264:D67N;ENSP00000368995:D67N;ENSP00000414316:D67N	ENSP00000342580:D67N	D	-	1	0	TRPC4	37255272	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.818000	0.86416	2.861000	0.98227	0.650000	0.86243	GAT	TRPC4	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000133107		0.373	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	-	0	65	0	C	NM_003306		38357272	-1	tier1	-	no_errors	ENST00000379681	ensembl	human	known	74_37	missense	9.52	57	6	SNP	1.000	T	T	38357272	C	T	38357272	3	4	133	1	0	0	0	0	1	0	0	0	16628	826	29	3	2789	3	TRPC4	13	38357272	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3946846	38357272	76812606	334	34256											
FREM2	341640	genome.wustl.edu	37	chr13	39424336	39424336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatggactttgaagaacgcCcaaacactgatacctccatc	13	9	7	12	1	0	4	0	3	0	1	2	5	1	5	3	1	3	0	3	1	4	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr13:39424336C>A	ENST00000280481.7	+	9	6757	c.6541C>A	c.(6541-6543)Cca>Aca	p.P2181T	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2181	Calx-beta 4.				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)		TGAAGAACGCCCAAACACTGA	0.433																																																	0													95	86	89					13																	39424336		2203	4300	6503	SO:0001583	missense	0			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.6541C>A	13.37:g.39424336C>A	ENSP00000280481:p.Pro2181Thr		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P2181T	ENST00000280481.7	37	c.6541	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012413	0.93346	.	.	ENSG00000150893	ENST00000280481	T	0.20069	2.1	5.79	5.79	0.91817	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60777	-0.7196	10	0.54805	T	0.06	.	20.0373	0.97568	0.0:1.0:0.0:0.0	.	2181;2181	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	T	2181	ENSP00000280481:P2181T	ENSP00000280481:P2181T	P	+	1	0	FREM2	38322336	1.000000	0.71417	0.974000	0.42286	0.968000	0.65278	7.724000	0.84798	2.734000	0.93682	0.655000	0.94253	CCA	FREM2	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000150893		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	35	0	C	NM_207361		39424336	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	39424336	C	A	39424336	3	1	133	1	0	0	0	0	1	0	0	0	6069	623	22	3	6575	3	FREM2	13	39424336	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1067064	39424336	75745542	335	34257											
STOML3	161003	genome.wustl.edu	37	chr13	39550710	39550710	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgtcagcttggatgcgtcCcagacggaatacaacagcac	11	9	10	11	2	1	1	1	0	0	1	2	3	2	3	1	2	5	2	1	2	3	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr13:39550710C>A	ENST00000379631.4	-	3	540	c.196G>T	c.(196-198)Gga>Tga	p.G66*	STOML3_ENST00000423210.1_Nonsense_Mutation_p.G57*	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	66					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TGGATGCGTCCCAGACGGAAT	0.483																																																	0													105	93	97					13																	39550710		2203	4300	6503	SO:0001587	stop_gained	0			BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.196G>T	13.37:g.39550710C>A	ENSP00000368952:p.Gly66*		B4E285|Q5JS35	Nonsense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.G66*	ENST00000379631.4	37	c.196	CCDS9367.1	13	.	.	.	.	.	.	.	.	.	.	C	40	8.501208	0.98838	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.2482	18.7652	0.91869	0.0:1.0:0.0:0.0	.	.	.	.	X	66;57	.	ENSP00000368952:G66X	G	-	1	0	STOML3	38448710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.306000	0.78905	2.763000	0.94921	0.655000	0.94253	GGA	STOML3	-	pfam_Band_7,smart_Band_7,prints_Stomatin	ENSG00000133115		0.483	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STOML3	HGNC	protein_coding	OTTHUMT00000044604.2	-	0	107	0	C			39550710	-1	tier1	-	no_errors	ENST00000379631	ensembl	human	known	74_37	nonsense	18.60	105	24	SNP	1.000	A	A	39550710	C	A	39550710	4	1	133	1	0	0	0	0	0	1	0	0	15362	632	22	3	699	3	STOML3	13	39550710	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	126374	39550710	75619168	336	34258											
KBTBD6	89890	genome.wustl.edu	37	chr13	41706476	41706476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcacacagcagccgcgcatCgtagaaggacttgagctgtg	11	7	12	11	3	1	2	1	1	0	1	2	3	1	3	1	1	3	4	1	1	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr13:41706476C>T	ENST00000379485.1	-	1	406	c.172G>A	c.(172-174)Gat>Aat	p.D58N	KBTBD6_ENST00000499385.2_Intron	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	58										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)		AGCCGCGCATCGTAGAAGGAC	0.607																																																	0													102	102	102					13																	41706476		2203	4300	6503	SO:0001583	missense	0			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.172G>A	13.37:g.41706476C>T	ENSP00000368799:p.Asp58Asn		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.D58N	ENST00000379485.1	37	c.172	CCDS9376.1	13	.	.	.	.	.	.	.	.	.	.	c	17.33	3.363198	0.61513	.	.	ENSG00000165572	ENST00000379485	T	0.67171	-0.25	3.65	3.65	0.41850	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73506	-0.3961	10	0.45353	T	0.12	.	13.2074	0.59805	0.0:1.0:0.0:0.0	.	58	Q86V97	KBTB6_HUMAN	N	58	ENSP00000368799:D58N	ENSP00000368799:D58N	D	-	1	0	KBTBD6	40604476	1.000000	0.71417	0.984000	0.44739	0.343000	0.28985	3.904000	0.56325	2.061000	0.61500	0.313000	0.20887	GAT	KBTBD6	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold	ENSG00000165572		0.607	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	HGNC	protein_coding	OTTHUMT00000044657.1	-	0	60	0	C	NM_152903		41706476	-1	tier1	-	no_errors	ENST00000379485	ensembl	human	known	74_37	missense	12.12	87	12	SNP	1.000	T	T	41706476	C	T	41706476	3	4	133	1	0	0	0	0	1	0	0	0	8024	884	31	1	1856	1	KBTBD6	13	41706476	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2155766	41706476	73463402	337	34259											
ZC3H13	23091	genome.wustl.edu	37	chr13	46549674	46549674	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctcgttccctctctctttCccgctctcgatcgtggtctc	1	16	7	17	4	5	0	0	0	5	0	12	1	7	0	2	1	0	2	2	1	0	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr13:46549674C>A	ENST00000242848.4	-	12	2560	c.2212G>T	c.(2212-2214)Gaa>Taa	p.E738*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.E738*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	738	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctctctctttcccgctctcGA	0.522																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													146	124	131					13																	46549674		2203	4296	6499	SO:0001587	stop_gained	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2212G>T	13.37:g.46549674C>A	ENSP00000242848:p.Glu738*		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E738*	ENST00000242848.4	37	c.2212		13	.	.	.	.	.	.	.	.	.	.	C	40	8.496715	0.98836	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	.	.	.	5.19	5.19	0.71726	.	0.000000	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	18.6794	0.91541	0.0:1.0:0.0:0.0	.	.	.	.	X	738	.	ENSP00000242848:E738X	E	-	1	0	ZC3H13	45447675	1.000000	0.71417	0.873000	0.34254	0.584000	0.36387	6.109000	0.71528	2.567000	0.86603	0.557000	0.71058	GAA	ZC3H13	-	NULL	ENSG00000123200		0.522	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	-	0	68	0	C	NM_015070		46549674	-1	tier1	-	no_errors	ENST00000242848	ensembl	human	known	74_37	nonsense	13.19	79	12	SNP	1.000	A	A	46549674	C	A	46549674	4	1	133	1	0	0	0	0	0	1	0	0	17613	864	30	3	2506	3	ZC3H13	13	46549674	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	4843198	46549674	68620204	338	34260											
THSD1	55901	genome.wustl.edu	37	chr13	52951643	52951643	+	Missense_Mutation	SNP	T	T	A	0	1	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	ccagcatcctctgctcagccTcagtgaggccaaacgacgta	10	7	9	15	2	3	1	2	1	1	0	4	2	4	1	4	1	4	3	4	1	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr13:52951643T>A	ENST00000258613.4	-	5	2640	c.2462A>T	c.(2461-2463)gAg>gTg	p.E821V	THSD1_ENST00000544466.1_Missense_Mutation_p.E442V|THSD1_ENST00000349258.4_Missense_Mutation_p.E768V	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	821					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTGCTCAGCCTCAGTGAGGCC	0.483																																																	0													27	28	28					13																	52951643		2198	4280	6478	SO:0001583	missense	0			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2462A>T	13.37:g.52951643T>A	ENSP00000258613:p.Glu821Val		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.E821V	ENST00000258613.4	37	c.2462	CCDS9432.1	13	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208856	0.39003	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.57752	1.0;0.38;1.16	5.67	4.49	0.54785	.	0.098719	0.64402	D	0.000002	T	0.69441	0.3111	M	0.72894	2.215	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.71938	-0.4441	10	0.87932	D	0	-18.6427	11.3307	0.49475	0.0:0.0712:0.0:0.9288	.	768;821	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	V	768;442;821	ENSP00000340650:E768V;ENSP00000438512:E442V;ENSP00000258613:E821V	ENSP00000258613:E821V	E	-	2	0	THSD1	51849644	1.000000	0.71417	0.327000	0.25402	0.144000	0.21451	5.254000	0.65457	1.085000	0.41206	-0.462000	0.05337	GAG	THSD1	-	NULL	ENSG00000136114		0.483	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3		0	76	0	T			52951643	-1			no_errors	ENST00000258613	ensembl	human	known	74_37	missense	6.60	99	7	SNP	0.997	A	A	52951643	T	A	52951643	3	1	133	1	0	0	0	0	1	0	0	0	15924	1551	54	5	100	5	THSD1	13	52951643	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	6401969	52951643	62218235	339	34261											
CCNB1IP1	57820	genome.wustl.edu	37	chr14	20779823	20779823	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgctgtgggagaaccCgcaaaaaatggtctgaactg	12	8	13	8	1	2	2	1	1	1	1	2	3	2	2	1	3	3	2	1	3	5	0	rs372100580	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:20779823C>A	ENST00000398169.3	-	7	1336	c.720G>T	c.(718-720)gcG>gcT	p.A240A	CCNB1IP1_ENST00000358932.4_Silent_p.A240A|CCNB1IP1_ENST00000353689.4_Silent_p.A240A|CCNB1IP1_ENST00000437553.2_Silent_p.A240A|CCNB1IP1_ENST00000398163.2_Silent_p.A240A|CCNB1IP1_ENST00000398160.2_Silent_p.A240A			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	240					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TGGGAGAACCCGCAAAAAATG	0.458			T	HMGA2	leiomyoma																																			Dom	yes		14	14q11.2	57820	"cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"		M	0													114	119	117					14																	20779823		2203	4300	6503	SO:0001819	synonymous_variant	0			AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"human enhancer of invasion 10"	608249	"chromosome 14 open reading frame 18", "cyclin B1 interacting protein 1"	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.720G>T	14.37:g.20779823C>A				Silent	SNP	NULL	p.A240	ENST00000398169.3	37	c.720	CCDS9547.1	14																																																																																			CCNB1IP1	-	NULL	ENSG00000100814		0.458	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	CCNB1IP1	HGNC	protein_coding	OTTHUMT00000073538.3	-	0	60	0	C	NM_021178, NM_182849, NM_182851, NM_182852		20779823	-1	tier1	-	no_errors	ENST00000353689	ensembl	human	known	74_37	silent	8.86	72	7	SNP	1.000	A	A	20779823	C	A	20779823	2	1	133	1	0	0	0	0	0	0	0	1	2919	639	23	2		2	CCNB1IP1	14	20779823	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		20779823	86569717	340	34262											
SALL2	6297	genome.wustl.edu	37	chr14	21993201	21993201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	aggtagctctgagggactggCaggggcacccaccgtctggc	7	6	16	12	1	2	1	0	1	2	0	2	2	2	2	2	6	1	4	2	6	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:21993201C>T	ENST00000327430.3	-	2	955	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	221					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)		GAGGGACTGGCAGGGGCACCC	0.597																																																	0													44	44	44					14																	21993201		2203	4300	6503	SO:0001583	missense	0			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.661G>A	14.37:g.21993201C>T	ENSP00000333537:p.Ala221Thr		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A221T	ENST00000327430.3	37	c.661	CCDS32045.1	14	.	.	.	.	.	.	.	.	.	.	C	6.486	0.457890	0.12342	.	.	ENSG00000165821	ENST00000327430;ENST00000541876	T	0.03920	3.76	4.46	3.56	0.40772	.	0.416917	0.17530	N	0.170904	T	0.03011	0.0089	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.40289	-0.9571	10	0.11794	T	0.64	-20.9772	5.253	0.15532	0.2177:0.6788:0.0:0.1034	.	219;221	B4DFD9;Q9Y467	.;SALL2_HUMAN	T	221	ENSP00000333537:A221T	ENSP00000333537:A221T	A	-	1	0	SALL2	21063041	0.015000	0.18098	0.997000	0.53966	0.986000	0.74619	-0.120000	0.10660	1.078000	0.41014	0.655000	0.94253	GCC	SALL2	-	NULL	ENSG00000165821		0.597	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL2	HGNC	protein_coding	OTTHUMT00000401242.1	-	0	55	0	C	NM_005407		21993201	-1	tier1	-	no_errors	ENST00000327430	ensembl	human	known	74_37	missense	7.04	65	5	SNP	0.999	T	T	21993201	C	T	21993201	3	4	133	1	0	0	0	0	1	0	0	0	13856	710	25	3	2366	3	SALL2	14	21993201	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1213378	21993201	85356339	341	34263											
DHRS4L1	90668	genome.wustl.edu	37	chr14	24520164	24520164	+	5'Flank	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgggtggaggaacccCgtcccgcctctgaggacccg	6	6	16	13	3	1	1	0	1	1	0	2	5	2	4	5	5	1	0	5	5	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:24520164C>A	ENST00000342740.5	+	0	0				LRRC16B_ENST00000334420.7_5'Flank|RP11-468E2.9_ENST00000558293.1_RNA	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B							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)		GGAGGAACCCCGTCCCGCCTC	0.597																																																	0													56	58	57					14																	24520164		2203	4300	6503	SO:0001631	upstream_gene_variant	0			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			14.37:g.24520164C>A	Exception_encountered		Q8TEF7|Q96HS9	RNA	SNP	-	NULL	ENST00000342740.5	37	NULL	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	C	8.742	0.919177	0.17982	.	.	ENSG00000225766	ENST00000397065	.	.	.	4.7	0.636	0.17729	.	.	.	.	.	T	0.25901	0.0631	L	0.45137	1.4	.	.	.	B	0.29531	0.247	B	0.28305	0.088	T	0.29912	-0.9996	7	0.08837	T	0.75	.	3.6978	0.08371	0.2646:0.4741:0.0:0.2613	.	278	P0CG22	DR4L1_HUMAN	Q	278	.	ENSP00000380255:P278Q	P	+	2	0	AL136295.1	23590004	0.000000	0.05858	0.009000	0.14445	0.713000	0.41058	0.143000	0.16115	0.220000	0.20860	-0.463000	0.05309	CCG	RP11-468E2.9	-	-	ENSG00000225766		0.597	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DHRS4L1	Clone_based_vega_gene	protein_coding	OTTHUMT00000416527.1	-	0	98	0	C	NM_138360		24520164	1	tier1	-	no_errors	ENST00000558293	ensembl	human	known	74_37	rna	7.09	131	10	SNP	0.002	A	A	24520164	C	A	24520164	1	1	133	0	1	0	0	0	0	0	0	0	4507	652	23	2		2	DHRS4L1	14	24520164	5'Flank	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2526963	24520164	82829376	342	34264											
NEDD8	4738	genome.wustl.edu	37	chr14	24686403	24686403	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaccacctaaaatcttgTaatcagctgctgtcttctca	11	13	5	12	0	4	1	2	1	3	0	5	1	4	1	2	0	3	3	2	0	4	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:24686403T>A	ENST00000250495.5	-	4	362	c.176A>T	c.(175-177)tAc>tTc	p.Y59F	NEDD8-MDP1_ENST00000534348.1_Intron|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_5'Flank|MDP1_ENST00000532557.1_5'Flank|NEDD8-MDP1_ENST00000604306.1_Intron|MDP1_ENST00000288087.7_5'Flank	NM_006156.2	NP_006147.1	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally down-regulated 8	59					anatomical structure morphogenesis (GO:0009653)|cellular protein modification process (GO:0006464)|protein localization (GO:0008104)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to organic cyclic compound (GO:0014070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TAAAATCTTGTAATCAGCTGC	0.428																																																	0													77	63	68					14																	24686403		2203	4300	6503	SO:0001583	missense	0			D23662	CCDS9621.1	14q11.2	2008-08-13			ENSG00000129559	ENSG00000129559			7732	protein-coding gene	gene with protein product		603171				9353319	Standard	NM_006156		Approved	Nedd-8		Q15843	OTTHUMG00000029325	ENST00000250495.5:c.176A>T	14.37:g.24686403T>A	ENSP00000250495:p.Tyr59Phe		Q3SXN8|Q6LES6	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.Y59F	ENST00000250495.5	37	c.176	CCDS9621.1	14	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212703	0.79352	.	.	ENSG00000129559	ENST00000250495	T	0.80824	-1.42	4.96	4.96	0.65561	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	.	.	.	0.80722	D	1	B	0.23806	0.091	B	0.25140	0.058	T	0.75693	-0.3229	9	0.87932	D	0	-4.7474	13.7442	0.62865	0.0:0.0:0.0:1.0	.	59	Q15843	NEDD8_HUMAN	F	59	ENSP00000250495:Y59F	ENSP00000250495:Y59F	Y	-	2	0	NEDD8	23756243	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.657000	0.74402	2.071000	0.62044	0.477000	0.44152	TAC	NEDD8-MDP1	-	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	ENSG00000255526		0.428	NEDD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEDD8-MDP1	HGNC	protein_coding	OTTHUMT00000073146.2		0	43	0	T	NM_006156		24686403	-1			no_errors	ENST00000605847	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	A	A	24686403	T	A	24686403	3	1	133	1	0	0	0	0	1	0	0	0	10351	1638	57	5	73	5	NEDD8	14	24686403	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	166239	24686403	82663137	343	34265											
ADCY4	196883	genome.wustl.edu	37	chr14	24798662	24798662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgaaggtaggggtccCgatgctccatgcctgcgtcc	5	8	13	15	3	0	0	0	0	0	0	4	2	4	0	5	3	3	3	5	3	2	1	rs146439456		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:24798662C>A	ENST00000310677.4	-	10	1408	c.1295G>T	c.(1294-1296)cGg>cTg	p.R432L	ADCY4_ENST00000418030.2_Missense_Mutation_p.R432L|ADCY4_ENST00000554068.2_Missense_Mutation_p.R432L|ADCY4_ENST00000396747.3_Missense_Mutation_p.R125L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	432					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)		GTAGGGGTCCCGATGCTCCAT	0.632																																																	0													65	64	65					14																	24798662		2203	4300	6503	SO:0001583	missense	0			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.1295G>T	14.37:g.24798662C>A	ENSP00000312126:p.Arg432Leu		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R432L	ENST00000310677.4	37	c.1295	CCDS9627.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.949772|4.949772	0.92660|0.92660	.|.	.|.	ENSG00000129467|ENSG00000129467	ENST00000556932|ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	.|D;D;D;D	.|0.85258	.|-1.56;-1.56;-1.56;-1.96	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Adenylyl cyclase class-3/4/guanylyl cyclase (3);	.|0.172458	.|0.27986	.|N	.|0.017059	D|D	0.90164|0.90164	0.6926|0.6926	L|L	0.52126|0.52126	1.63|1.63	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.90815|0.90815	0.4704|0.4704	5|10	.|0.87932	.|D	.|0	.|.	16.1244|16.1244	0.81382|0.81382	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|432	.|Q8NFM4	.|ADCY4_HUMAN	W|L	5|432;432;432;125	.|ENSP00000312126:R432L;ENSP00000452250:R432L;ENSP00000393177:R432L;ENSP00000379971:R125L	.|ENSP00000312126:R432L	G|R	-|-	1|2	0|0	ADCY4|ADCY4	23868502|23868502	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.790000|0.790000	0.44656|0.44656	7.597000|7.597000	0.82733|0.82733	2.670000|2.670000	0.90874|0.90874	0.655000|0.655000	0.94253|0.94253	GGG|CGG	ADCY4	-	pfam_A/G_cyclase,superfamily_A/G_cyclase	ENSG00000129467		0.632	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4		0	51	0	C			24798662	-1			no_errors	ENST00000310677	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.993	A	A	24798662	C	A	24798662	3	1	133	1	0	0	0	0	1	0	0	0	296	652	23	2	2006	2	ADCY4	14	24798662	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	112259	24798662	82550878	344	34266											
CTSG	1511	genome.wustl.edu	37	chr14	25043995	25043995	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctctggatattgtgggcGcccagggtgacatttatatt	7	14	12	8	2	1	1	0	1	1	0	2	2	1	2	1	3	0	0	1	3	3	6	rs143803246		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:25043995G>C	ENST00000216336.2	-	3	261	c.225C>G	c.(223-225)ggC>ggG	p.G75G		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	75	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.G75G(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TATTGTGGGCGCCCAGGGTGA	0.557																																																	1	Substitution - coding silent(1)	large_intestine(1)											139	122	128					14																	25043995		2203	4300	6503	SO:0001819	synonymous_variant	0			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.225C>G	14.37:g.25043995G>C			Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G75	ENST00000216336.2	37	c.225	CCDS9631.1	14																																																																																			CTSG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000100448		0.557	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSG	HGNC	protein_coding	OTTHUMT00000276536.2	-	0	64	0	G	NM_001911		25043995	-1	tier1	-	no_errors	ENST00000216336	ensembl	human	known	74_37	silent	12.99	67	10	SNP	0.992	C	C	25043995	G	C	25043995	2	2	133	1	0	0	0	0	0	0	0	1	4044	1074	38	5		5	CTSG	14	25043995	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	245333	25043995	82305545	345	34267											
NPAS3	64067	genome.wustl.edu	37	chr14	34269169	34269169	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttcggtgctctgggcgcGatgcagatcaaggtggagcg	6	8	18	9	4	2	1	1	0	1	1	3	3	2	2	0	5	3	3	0	5	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:34269169G>A	ENST00000356141.4	+	12	1656	c.1656G>A	c.(1654-1656)gcG>gcA	p.A552A	NPAS3_ENST00000357798.5_Silent_p.A539A|NPAS3_ENST00000551492.1_Silent_p.A557A|NPAS3_ENST00000346562.2_Silent_p.A520A|NPAS3_ENST00000548645.1_Silent_p.A522A			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	552				A -> P (in Ref. 3; AAO17043). {ECO:0000305}.	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)		CTCTGGGCGCGATGCAGATCA	0.652																																																	0													48	49	49					14																	34269169		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1656G>A	14.37:g.34269169G>A			Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.A552	ENST00000356141.4	37	c.1656	CCDS53891.1	14																																																																																			NPAS3	-	NULL	ENSG00000151322		0.652	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	-	0	72	0	G			34269169	1	tier1	-	no_errors	ENST00000356141	ensembl	human	known	74_37	silent	14.47	64	11	SNP	0.849	A	A	34269169	G	A	34269169	2	1	133	1	0	0	0	0	0	0	0	1	10603	1045	37	1		1	NPAS3	14	34269169	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	9225174	34269169	73080371	346	34268											
C14orf28	122525	genome.wustl.edu	37	chr14	45370114	45370114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagttactgttccaactggcGatgcccaactcgagtgcagg	9	9	12	11	2	0	0	0	0	0	0	2	3	1	0	2	2	5	3	2	2	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:45370114G>A	ENST00000325192.3	+	2	751	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	C14orf28_ENST00000553841.1_3'UTR|C14orf28_ENST00000557112.1_Missense_Mutation_p.R159Q|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	159								p.R159L(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TCCAACTGGCGATGCCCAACT	0.343																																																	1	Substitution - Missense(1)	lung(1)											70	72	72					14																	45370114		2203	4300	6503	SO:0001583	missense	0			AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"dopamine receptor interacting protein 1"						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.476G>A	14.37:g.45370114G>A	ENSP00000326846:p.Arg159Gln			Missense_Mutation	SNP	NULL	p.R159Q	ENST00000325192.3	37	c.476	CCDS32069.1	14	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173338	0.38413	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.30714	1.52;1.52	5.86	4.96	0.65561	.	0.227351	0.44285	D	0.000467	T	0.12433	0.0302	N	0.08118	0	0.27714	N	0.945356	P	0.37176	0.586	B	0.21360	0.034	T	0.09907	-1.0653	10	0.40728	T	0.16	.	9.7082	0.40229	0.1595:0.0:0.8405:0.0	.	159	Q4W4Y0	CN028_HUMAN	Q	159	ENSP00000326846:R159Q;ENSP00000451791:R159Q	ENSP00000326846:R159Q	R	+	2	0	C14orf28	44439864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.525000	0.53502	1.592000	0.50018	0.650000	0.86243	CGA	C14orf28	-	NULL	ENSG00000179476		0.343	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	C14orf28	HGNC	protein_coding	OTTHUMT00000410086.1	-	0	70	0	G	NM_001017923		45370114	1	tier1	-	no_errors	ENST00000325192	ensembl	human	known	74_37	missense	10.99	81	10	SNP	1.000	A	A	45370114	G	A	45370114	3	1	133	1	0	0	0	0	1	0	0	0	1775	1058	37	1	478	1	C14orf28	14	45370114	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	11100945	45370114	61979426	347	34269											
MPP5	64398	genome.wustl.edu	37	chr14	67799567	67799567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatggccactactttgataCggcaattgtgaattccgatc	11	12	8	10	2	0	2	0	2	0	0	2	3	1	2	2	2	2	1	2	2	5	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:67799567C>A	ENST00000261681.4	+	15	2583	c.1922C>A	c.(1921-1923)aCg>aAg	p.T641K	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.T607K	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	641	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.T641M(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TACTTTGATACGGCAATTGTG	0.403																																																	1	Substitution - Missense(1)	kidney(1)											96	86	90					14																	67799567		2203	4300	6503	SO:0001583	missense	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1922C>A	14.37:g.67799567C>A	ENSP00000261681:p.Thr641Lys		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.T641K	ENST00000261681.4	37	c.1922	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494916	0.44352	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.17213	2.29;2.29	5.55	5.55	0.83447	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.101886	0.64402	D	0.000002	T	0.14270	0.0345	N	0.10782	0.045	0.80722	D	1	P	0.35124	0.485	B	0.40741	0.339	T	0.21552	-1.0242	10	0.23891	T	0.37	.	19.5081	0.95127	0.0:1.0:0.0:0.0	.	641	Q8N3R9	MPP5_HUMAN	K	641;607	ENSP00000261681:T641K;ENSP00000451488:T607K	ENSP00000261681:T641K	T	+	2	0	MPP5	66869320	1.000000	0.71417	0.986000	0.45419	0.908000	0.53690	5.919000	0.70005	2.616000	0.88540	0.591000	0.81541	ACG	MPP5	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000072415		0.403	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	-	0	50	0	C	NM_022474		67799567	1	tier1	-	no_errors	ENST00000261681	ensembl	human	known	74_37	missense	8.51	86	8	SNP	0.999	A	A	67799567	C	A	67799567	3	1	133	1	0	0	0	0	1	0	0	0	9775	536	19	2	1972	2	MPP5	14	67799567	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	22429453	67799567	39549973	348	34270											
DPF3	8110	genome.wustl.edu	37	chr14	73190435	73190435	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcattttccaaaaccCtctgaaatgaaaaaaaaaaa	20	11	2	8	0	3	2	2	2	1	0	4	2	4	2	2	0	1	0	2	0	8	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:73190435C>G	ENST00000556509.1	-	5	430	c.431G>C	c.(430-432)aGg>aCg	p.R144T	DPF3_ENST00000541685.1_Splice_Site_p.R144T|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Splice_Site_p.R154T	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	144					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTCCAAAACCCTCTGAAATGA	0.353																																																	0													139	138	138					14																	73190435		1813	4074	5887	SO:0001630	splice_region_variant	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.430-1G>C	14.37:g.73190435C>G			A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R199T	ENST00000556509.1	37	c.596		14	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958234	0.73902	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.90844	-2.74;-0.19;-0.21	5.07	5.07	0.68467	.	.	.	.	.	D	0.94578	0.8253	M	0.73962	2.25	0.80722	D	1	D;P;D	0.55172	0.97;0.916;0.967	P;P;P	0.60789	0.857;0.631;0.879	D	0.95196	0.8312	9	0.87932	D	0	.	18.4822	0.90817	0.0:1.0:0.0:0.0	.	154;144;144	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	T	144;144;143;144;154	ENSP00000450518:R144T;ENSP00000441640:R144T;ENSP00000444662:R154T	ENSP00000381791:R199T	R	-	2	0	DPF3	72260188	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.652000	0.67959	2.364000	0.80123	0.561000	0.74099	AGG	DPF3	-	NULL	ENSG00000205683		0.353	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	-	0	118	0	C		Missense_Mutation	73190435	-1	tier1	-	no_errors	ENST00000366353	ensembl	human	known	74_37	missense	8.86	144	14	SNP	1.000	G	G	73190435	C	G	73190435	5	3	133	1	0	0	0	0	0	0	1	0	4732	695	24	5	662	5	DPF3	14	73190435	Splice_Site	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	5390868	73190435	34159105	349	34271											
VSX2	338917	genome.wustl.edu	37	chr14	74706337	74706337	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagtacctcggggggcGccccggccaggtgcactggg	6	4	17	14	3	0	1	0	0	0	1	1	1	0	1	5	6	2	2	5	6	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:74706337G>C	ENST00000261980.2	+	1	163	c.73G>C	c.(73-75)Gcc>Ccc	p.A25P		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	25	Pro-rich.				cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CTCGGGGGGCGCCCCGGCCAG	0.682																																																	0													14	19	17					14																	74706337		1856	3522	5378	SO:0001583	missense	0			AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"Homeoboxes / PRD class"	1975	protein-coding gene	gene with protein product		142993	"C elegans ceh-10 homeo domain-containing homolog", "ceh-10 homeo domain containing homolog (C. elegans)", "ceh-10 homeodomain containing homolog (C. elegans)"	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.73G>C	14.37:g.74706337G>C	ENSP00000261980:p.Ala25Pro		A1A4X6	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.A25P	ENST00000261980.2	37	c.73	CCDS9827.1	14	.	.	.	.	.	.	.	.	.	.	G	6.610	0.480969	0.12581	.	.	ENSG00000119614	ENST00000261980	D	0.90563	-2.69	5.14	2.15	0.27550	.	0.720211	0.13661	N	0.371609	T	0.78375	0.4273	N	0.12182	0.205	0.23533	N	0.997472	B	0.06786	0.001	B	0.06405	0.002	T	0.63625	-0.6595	10	0.23302	T	0.38	.	6.0758	0.19915	0.2605:0.1788:0.5607:0.0	.	25	P58304	VSX2_HUMAN	P	25	ENSP00000261980:A25P	ENSP00000261980:A25P	A	+	1	0	VSX2	73776090	0.987000	0.35691	0.994000	0.49952	0.545000	0.35147	0.461000	0.21940	0.773000	0.33404	-0.251000	0.11542	GCC	VSX2	-	NULL	ENSG00000119614		0.682	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX2	HGNC	protein_coding	OTTHUMT00000412323.1	-	0	66	0	G	NM_182894		74706337	1	tier1	-	no_errors	ENST00000261980	ensembl	human	known	74_37	missense	10.81	66	8	SNP	0.980	C	C	74706337	G	C	74706337	3	2	133	1	0	0	0	0	1	0	0	0	17281	1087	38	5	75	5	VSX2	14	74706337	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1515902	74706337	32643203	350	34272											
ALKBH1	8846	genome.wustl.edu	37	chr14	78142116	78142116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctcggaaatcctcaaatCcacaggcagcggctacttgc	11	7	9	14	2	1	0	1	0	0	0	4	1	3	1	2	3	4	3	2	3	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:78142116C>A	ENST00000216489.3	-	5	638	c.623G>T	c.(622-624)gGa>gTa	p.G208V		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	208	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATCCTCAAATCCACAGGCAGC	0.473																																																	0													94	94	94					14																	78142116		2203	4300	6503	SO:0001583	missense	0			X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.623G>T	14.37:g.78142116C>A	ENSP00000216489:p.Gly208Val		Q8TAU1|Q9ULA7	Missense_Mutation	SNP	tigrfam_Alkb	p.G208V	ENST00000216489.3	37	c.623	CCDS32127.1	14	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573278	0.86542	.	.	ENSG00000100601	ENST00000216489	T	0.12569	2.67	6.03	6.03	0.97812	Oxoglutarate/iron-dependent oxygenase (1);	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54596	-0.8270	10	0.72032	D	0.01	-19.2516	20.5568	0.99304	0.0:1.0:0.0:0.0	.	208	Q13686	ALKB1_HUMAN	V	208	ENSP00000216489:G208V	ENSP00000216489:G208V	G	-	2	0	ALKBH1	77211869	1.000000	0.71417	0.994000	0.49952	0.710000	0.40934	7.391000	0.79828	2.861000	0.98227	0.655000	0.94253	GGA	ALKBH1	-	tigrfam_Alkb	ENSG00000100601		0.473	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH1	HGNC	protein_coding	OTTHUMT00000414037.1	-	0	78	0	C	NM_006020		78142116	-1	tier1	-	no_errors	ENST00000216489	ensembl	human	known	74_37	missense	9.23	118	12	SNP	1.000	A	A	78142116	C	A	78142116	3	1	133	1	0	0	0	0	1	0	0	0	526	855	30	3	554	3	ALKBH1	14	78142116	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3435779	78142116	29207424	351	34273											
FOXN3	1112	genome.wustl.edu	37	chr14	89629022	89629022	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagaatccttgggctcCttctggctgtgcttcctgtc	4	13	10	14	0	1	1	0	0	1	1	5	2	4	1	4	2	1	3	4	2	1	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:89629022C>T	ENST00000345097.4	-	7	1325	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K	FOXN3_ENST00000555353.1_Silent_p.K381K|FOXN3_ENST00000557258.1_Silent_p.K381K|FOXN3_ENST00000261302.5_Silent_p.K403K	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	403					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						CCTTGGGCTCCTTCTGGCTGT	0.667																																																	0													91	79	83					14																	89629022		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1209G>A	14.37:g.89629022C>T			Q96II7|Q9UIE7	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.K403	ENST00000345097.4	37	c.1209	CCDS41977.1	14																																																																																			FOXN3	-	NULL	ENSG00000053254		0.667	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN3	HGNC	protein_coding	OTTHUMT00000410902.2	-	0	59	0	C	NM_005197		89629022	-1	tier1	-	no_errors	ENST00000261302	ensembl	human	known	74_37	silent	7.14	78	6	SNP	0.998	T	T	89629022	C	T	89629022	2	4	133	1	0	0	0	0	0	0	0	1	6045	680	24	3		3	FOXN3	14	89629022	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	11486906	89629022	17720518	352	34274											
TDP1	55775	genome.wustl.edu	37	chr14	90509479	90509479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcatgggaacatgtgggtgCcctcctgagaatcttgaggc	8	9	14	10	1	1	2	0	2	1	1	2	4	2	3	2	3	2	1	2	3	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:90509479C>T	ENST00000335725.4	+	17	2069	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	TDP1_ENST00000393454.2_Missense_Mutation_p.P607S|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000555880.1_Silent_p.C570C|TDP1_ENST00000357382.3_Missense_Mutation_p.P368S	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	607					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)		CATGTGGGTGCCCTCCTGAGA	0.423								Repair of DNA-protein crosslinks																																									0													100	87	91					14																	90509479		2203	4300	6503	SO:0001583	missense	0			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.1819C>T	14.37:g.90509479C>T	ENSP00000337353:p.Pro607Ser		Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	pfam_Tyr-DNA_phospho	p.P607S	ENST00000335725.4	37	c.1819	CCDS9888.1	14	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617201	0.87359	.	.	ENSG00000042088	ENST00000393454;ENST00000335725;ENST00000357382	T;T;T	0.62788	-0.0;-0.0;-0.0	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81044	0.4741	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.87578	0.998;0.685	D	0.83635	0.0147	10	0.72032	D	0.01	-1.5918	15.0181	0.71605	0.0:1.0:0.0:0.0	.	368;607	Q86TV8;Q9NUW8	.;TYDP1_HUMAN	S	607;607;368	ENSP00000377099:P607S;ENSP00000337353:P607S;ENSP00000349952:P368S	ENSP00000337353:P607S	P	+	1	0	TDP1	89579232	0.998000	0.40836	1.000000	0.80357	0.967000	0.64934	4.791000	0.62460	2.615000	0.88500	0.650000	0.86243	CCC	TDP1	-	NULL	ENSG00000042088		0.423	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	-	0	51	0	C	NM_018319		90509479	1	tier1	-	no_errors	ENST00000335725	ensembl	human	known	74_37	missense	17.28	67	14	SNP	1.000	T	T	90509479	C	T	90509479	3	4	133	1	0	0	0	0	1	0	0	0	15775	739	26	3	1877	3	TDP1	14	90509479	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	880457	90509479	16840061	353	34275											
TRIP11	9321	genome.wustl.edu	37	chr14	92470434	92470434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtattgcaaagctgccCaatgctgtgctgaacttgtg	8	13	11	9	0	0	1	0	1	0	0	0	1	0	1	1	1	6	5	1	1	4	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:92470434C>G	ENST00000267622.4	-	11	4259	c.3886G>C	c.(3886-3888)Ggg>Cgg	p.G1296R		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1296					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)		CAAAGCTGCCCAATGCTGTGC	0.418			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													49	51	50					14																	92470434		2202	4300	6502	SO:0001583	missense	0			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.3886G>C	14.37:g.92470434C>G	ENSP00000267622:p.Gly1296Arg		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.G1296R	ENST00000267622.4	37	c.3886	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.48|10.48	1.361651|1.361651	0.24684|0.24684	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.04809|.	3.55|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.122706|.	0.56097|.	D|.	0.000031|.	T|T	0.57007|0.57007	0.2024|0.2024	L|L	0.27053|0.27053	0.805|0.805	0.48696|0.48696	D|D	0.999694|0.999694	D;D|.	0.76494|.	0.999;0.976|.	D;P|.	0.69142|.	0.962;0.793|.	T|T	0.52388|0.52388	-0.8582|-0.8582	10|5	0.18710|.	T|.	0.47|.	.|.	18.8153|18.8153	0.92075|0.92075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1032;1296|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	R|S	1296;1032|1011	ENSP00000267622:G1296R|.	ENSP00000267622:G1296R|.	G|W	-|-	1|2	0|0	TRIP11|TRIP11	91540187|91540187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.463000|0.463000	0.32649|0.32649	4.222000|4.222000	0.58580|0.58580	2.432000|2.432000	0.82394|0.82394	0.455000|0.455000	0.32223|0.32223	GGG|TGG	TRIP11	-	NULL	ENSG00000100815		0.418	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	-	0	53	0	C			92470434	-1	tier1	-	no_errors	ENST00000267622	ensembl	human	known	74_37	missense	12.05	73	10	SNP	1.000	G	G	92470434	C	G	92470434	3	3	133	1	0	0	0	0	1	0	0	0	16603	594	21	5	2097	5	TRIP11	14	92470434	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1960955	92470434	14879106	354	34276											
ASB2	51676	genome.wustl.edu	37	chr14	94405565	94405565	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatgagaagcagggctcGccgtcgcagcccaggtccat	9	5	14	13	3	0	1	0	1	0	1	3	2	1	1	3	3	2	4	3	3	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:94405565G>C	ENST00000315988.4	-	6	1850	c.1362C>G	c.(1360-1362)ggC>ggG	p.G454G	ASB2_ENST00000556337.1_5'Flank|RP11-131H24.4_ENST00000557646.1_5'Flank|ASB2_ENST00000555019.1_Silent_p.G502G	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	454					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)		AGCAGGGCTCGCCGTCGCAGC	0.682																																																	0													29	29	29					14																	94405565		2201	4298	6499	SO:0001819	synonymous_variant	0			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.1362C>G	14.37:g.94405565G>C			B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.G454	ENST00000315988.4	37	c.1362	CCDS9915.1	14																																																																																			ASB2	-	NULL	ENSG00000100628		0.682	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	-	0	59	0	G			94405565	-1	tier1	-	no_errors	ENST00000315988	ensembl	human	known	74_37	silent	16.44	61	12	SNP	0.993	C	C	94405565	G	C	94405565	2	2	133	1	0	0	0	0	0	0	0	1	1024	1074	38	5		5	ASB2	14	94405565	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1935131	94405565	12943975	355	34277											
SERPINA5	5104	genome.wustl.edu	37	chr14	95058482	95058482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcactttcaggtcggcccGcctgaactctcagaggctag	8	10	10	13	2	3	2	3	1	1	1	5	2	3	2	2	3	1	1	2	3	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:95058482G>T	ENST00000554866.1	+	5	1241	c.1127G>T	c.(1126-1128)cGc>cTc	p.R376L	SERPINA5_ENST00000554276.1_Missense_Mutation_p.R376L|SERPINA5_ENST00000329597.7_Missense_Mutation_p.R376L|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R376L|RP11-986E7.7_ENST00000553947.1_Intron			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	376					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	AGGTCGGCCCGCCTGAACTCT	0.562																																																	0													215	223	221					14																	95058482		2203	4300	6503	SO:0001583	missense	0			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1127G>T	14.37:g.95058482G>T	ENSP00000451126:p.Arg376Leu		Q07616|Q9UG30	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R376L	ENST00000554866.1	37	c.1127	CCDS9928.1	14	.	.	.	.	.	.	.	.	.	.	G	6.853	0.526601	0.13066	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.49	-5.52	0.02560	Serpin domain (3);	2.186560	0.02369	N	0.077603	T	0.60599	0.2281	N	0.25144	0.715	0.09310	N	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.51655	-0.8678	10	0.10377	T	0.69	.	1.9764	0.03417	0.4717:0.1059:0.2228:0.1996	.	376	P05154	IPSP_HUMAN	L	376;376;376;228;300;376	ENSP00000450837:R376L;ENSP00000451126:R376L;ENSP00000333203:R376L;ENSP00000451610:R376L	ENSP00000333203:R376L	R	+	2	0	SERPINA5	94128235	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.315000	0.02713	-1.189000	0.02702	-0.137000	0.14449	CGC	SERPINA5	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000188488		0.562	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA5	HGNC	protein_coding	OTTHUMT00000410726.1	-	0	48	0	G	NM_000624		95058482	1	tier1	-	no_errors	ENST00000329597	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	T	T	95058482	G	T	95058482	3	4	133	1	0	0	0	0	1	0	0	0	14137	1087	38	2	1141	2	SERPINA5	14	95058482	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	652917	95058482	12291058	356	34278											
BEGAIN	57596	genome.wustl.edu	37	chr14	101005081	101005081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtggcgggtggcttgCggtcgaagagctcgtcgcgg	4	8	21	8	6	0	1	0	0	0	1	3	2	0	1	0	7	2	2	0	7	1	1	rs199676704		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:101005081C>A	ENST00000355173.2	-	7	1078	c.1007G>T	c.(1006-1008)cGc>cTc	p.R336L	BEGAIN_ENST00000443071.2_Missense_Mutation_p.R336L|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Missense_Mutation_p.R272L	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	336						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)				GGGTGGCTTGCGGTCGAAGAG	0.711																																					NSCLC(159;1889 2010 9965 27479 40101)												0													28	23	24					14																	101005081		2155	4251	6406	SO:0001583	missense	0			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.1007G>T	14.37:g.101005081C>A	ENSP00000347301:p.Arg336Leu		Q9NPU3|Q9P282	Missense_Mutation	SNP	superfamily_Prefoldin	p.R336L	ENST00000355173.2	37	c.1007	CCDS9962.1	14	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471741	0.43942	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.47	3.57	0.40892	.	0.255751	0.38326	N	0.001728	T	0.74489	0.3723	M	0.64997	1.995	0.49582	D	0.999808	D	0.89917	1.0	D	0.87578	0.998	T	0.75434	-0.3319	9	0.62326	D	0.03	.	11.8914	0.52630	0.0:0.9142:0.0:0.0858	.	336	Q9BUH8	BEGIN_HUMAN	L	336;272;336	.	ENSP00000347301:R336L	R	-	2	0	BEGAIN	100074834	0.978000	0.34361	0.954000	0.39281	0.038000	0.13279	1.773000	0.38563	0.868000	0.35678	0.462000	0.41574	CGC	BEGAIN	-	NULL	ENSG00000183092		0.711	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	HGNC	protein_coding	OTTHUMT00000414329.1	-	0	22	0	C	NM_020836		101005081	-1	tier1	-	no_errors	ENST00000355173	ensembl	human	known	74_37	missense	21.74	17	5	SNP	0.824	A	A	101005081	C	A	101005081	3	1	133	1	0	0	0	0	1	0	0	0	1398	768	27	2	778	2	BEGAIN	14	101005081	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	5946599	101005081	6344459	357	34279											
PPP2R5C	5527	genome.wustl.edu	37	chr14	102349849	102349849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagaatctatgggaaattCctaggcttgagagcttacat	13	11	9	8	0	1	2	0	1	1	2	2	4	2	3	1	2	2	2	1	2	5	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:102349849C>A	ENST00000334743.5	+	5	627	c.579C>A	c.(577-579)ttC>ttA	p.F193L	PPP2R5C_ENST00000422945.2_Missense_Mutation_p.F224L|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.F193L|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.F193L|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.F193L|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.F248L	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	193					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						ATGGGAAATTCCTAGGCTTGA	0.393																																																	0													73	83	80					14																	102349849		2201	4296	6497	SO:0001583	missense	0			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.579C>A	14.37:g.102349849C>A	ENSP00000333905:p.Phe193Leu		B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.F224L	ENST00000334743.5	37	c.672	CCDS9964.1	14	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347825	0.61183	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095	T;T;T;T;T	0.53206	0.64;0.65;0.63;0.69;0.64	4.62	4.62	0.57501	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.84082	2.675	0.80722	D	1	D;D;D;D;P;D	0.65815	0.981;0.977;0.995;0.984;0.656;0.982	P;P;D;P;B;D	0.64410	0.842;0.885;0.924;0.878;0.402;0.925	T	0.72027	-0.4414	10	0.72032	D	0.01	-18.7268	11.3857	0.49785	0.0:0.9162:0.0:0.0838	.	224;91;193;193;193;248	F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	L	224;248;222;193;91;162;193;193;193	ENSP00000412324:F224L;ENSP00000329009:F248L;ENSP00000450931:F222L;ENSP00000262239:F193L;ENSP00000333905:F193L	ENSP00000329009:F248L	F	+	3	2	PPP2R5C	101419602	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.482000	0.45224	2.284000	0.76573	0.655000	0.94253	TTC	PPP2R5C	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000078304		0.393	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	-	0	93	0	C	NM_002719		102349849	1	tier1	-	no_errors	ENST00000422945	ensembl	human	known	74_37	missense	16.26	103	20	SNP	1.000	A	A	102349849	C	A	102349849	3	1	133	1	0	0	0	0	1	0	0	0	12436	854	30	3	966	3	PPP2R5C	14	102349849	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1344768	102349849	4999691	358	34280											
CINP	51550	genome.wustl.edu	37	chr14	102815064	102815064	+	Missense_Mutation	SNP	T	T	A	0	1	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	cttcaggagcagctccttccTgtacatctccaagagcttat	9	12	7	13	0	2	1	1	0	1	1	5	2	4	2	3	1	4	4	3	1	3	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:102815064T>A	ENST00000216756.6	-	5	509	c.469A>T	c.(469-471)Agg>Tgg	p.R157W	CINP_ENST00000560326.1_5'Flank|CINP_ENST00000536961.2_Missense_Mutation_p.R172W|CINP_ENST00000541568.2_Silent_p.T113T	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	157				R -> K (in Ref. 1; AAF44747/AAF44748). {ECO:0000305}.	cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						AGCTCCTTCCTGTACATCTCC	0.537																																																	0													69	48	55					14																	102815064		2203	4300	6503	SO:0001583	missense	0			AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.469A>T	14.37:g.102815064T>A	ENSP00000216756:p.Arg157Trp		F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	prints_Cyclin-dep_Kinase_2_interact	p.R172W	ENST00000216756.6	37	c.514	CCDS9972.1	14	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742516	0.30865	.	.	ENSG00000100865	ENST00000216756;ENST00000536961	T;T	0.46819	0.88;0.86	6.07	-12.1	0.00011	.	1.100120	0.06780	N	0.785142	T	0.20495	0.0493	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.53620	-0.8413	10	0.59425	D	0.04	.	6.4875	0.22097	0.1252:0.1587:0.4969:0.2192	.	157	Q9BW66	CINP_HUMAN	W	157;172	ENSP00000216756:R157W;ENSP00000442057:R172W	ENSP00000216756:R157W	R	-	1	2	CINP	101884817	0.000000	0.05858	0.000000	0.03702	0.555000	0.35460	-0.909000	0.04058	-4.847000	0.00029	-1.106000	0.02097	AGG	CINP	-	prints_Cyclin-dep_Kinase_2_interact	ENSG00000100865		0.537	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CINP	HGNC	protein_coding	OTTHUMT00000415055.1	-	0	30	0	T	NM_032630		102815064	-1	tier1	-	no_errors	ENST00000536961	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.000	A	A	102815064	T	A	102815064	3	1	133	1	0	0	0	0	1	0	0	0	3438	1579	55	5	173	5	CINP	14	102815064	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	465215	102815064	4534476	359	34281											
AHNAK2	113146	genome.wustl.edu	37	chr14	105418587	105418587	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgggcaggtggccctcCgggagcttcacatccacctg	5	7	12	17	2	1	0	1	0	0	0	4	1	3	1	5	4	1	2	5	4	0	1	rs536223749	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr14:105418587C>A	ENST00000333244.5	-	7	3320	c.3201G>T	c.(3199-3201)ccG>ccT	p.P1067P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1067						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)			GGTGGCCCTCCGGGAGCTTCA	0.617																																																	0													94	107	103					14																	105418587		1904	4114	6018	SO:0001819	synonymous_variant	0			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.3201G>T	14.37:g.105418587C>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P1067	ENST00000333244.5	37	c.3201	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	139	0	C	NM_138420		105418587	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	silent	10.98	146	18	SNP	0.000	A	A	105418587	C	A	105418587	2	1	133	1	0	0	0	0	0	0	0	1	415	639	23	2		2	AHNAK2	14	105418587	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2603523	105418587	1930953	360	34282											
OCA2	4948	genome.wustl.edu	37	chr15	28326850	28326850	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaggagcccaagagctctgCccggcagcccccctggggca	7	3	14	17	1	1	1	0	0	1	1	1	2	1	2	5	4	4	4	5	4	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr15:28326850C>A	ENST00000354638.3	-	2	326	c.171G>T	c.(169-171)ggG>ggT	p.G57G	OCA2_ENST00000353809.5_Silent_p.G57G|OCA2_ENST00000382996.2_Silent_p.G57G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	57					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AAGAGCTCTGCCCGGCAGCCC	0.602									Oculocutaneous Albinism																																								0													37	36	36					15																	28326850		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.171G>T	15.37:g.28326850C>A			Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.G57	ENST00000354638.3	37	c.171	CCDS10020.1	15																																																																																			OCA2	-	NULL	ENSG00000104044		0.602	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	-	0	22	0	C	NM_000275		28326850	-1	tier1	-	no_errors	ENST00000354638	ensembl	human	known	74_37	silent	26.09	17	6	SNP	0.001	A	A	28326850	C	A	28326850	2	1	133	1	0	0	0	0	0	0	0	1	10854	726	26	3		3	OCA2	15	28326850	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		28326850	74204542	361	34283											
C15orf29	79768	genome.wustl.edu	37	chr15	34439631	34439631	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaacgccaagatcttctatCctgagagtataaaaagaata	18	9	6	8	1	2	3	0	1	2	3	3	4	3	3	2	0	1	1	2	0	9	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr15:34439631C>A	ENST00000256544.3	-	6	700	c.558G>T	c.(556-558)agG>agT	p.R186S		NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1	186						nucleolus (GO:0005730)											GATCTTCTATCCTGAGAGTAT	0.318																																																	0													48	46	47					15																	34439631		2201	4298	6499	SO:0001630	splice_region_variant	0			AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 29"	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.558-1G>T	15.37:g.34439631C>A			A8KAF6|Q2TAC0|Q9H670	Missense_Mutation	SNP	NULL	p.R186S	ENST00000256544.3	37	c.558	CCDS10034.1	15	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822758	0.71028	.	.	ENSG00000134152	ENST00000256544;ENST00000540594	.	.	.	5.68	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	M	0.71581	2.175	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.80044	-0.1547	9	0.59425	D	0.04	.	14.7582	0.69583	0.0:0.9306:0.0:0.0694	.	186	Q9H079	CO029_HUMAN	S	186;90	.	ENSP00000256544:R186S	R	-	3	2	C15orf29	32226923	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.898000	0.48672	1.550000	0.49438	0.591000	0.81541	AGG	KATNBL1	-	NULL	ENSG00000134152		0.318	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNBL1	HGNC	protein_coding	OTTHUMT00000251520.1	-	0	44	0	C	NM_024713	Missense_Mutation	34439631	-1	tier1	-	no_errors	ENST00000256544	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	A	A	34439631	C	A	34439631	5	1	133	1	0	0	0	0	0	0	1	0	1794	869	30	3	376	3	C15orf29	15	34439631	Splice_Site	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	6112781	34439631	68091761	362	34284											
TRIM69	140691	genome.wustl.edu	37	chr15	45047271	45047271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaagctgtggccacaacttCtgtgaagcctgtatccaaga	11	10	9	11	0	1	2	0	1	1	1	2	2	2	2	3	1	3	2	3	1	5	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr15:45047271C>T	ENST00000559390.1	+	3	1108	c.180C>T	c.(178-180)ttC>ttT	p.F60F	TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000329464.4_Silent_p.F60F			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	60	Necessary for nuclear localization. {ECO:0000250}.				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)		GCCACAACTTCTGTGAAGCCT	0.448																																					Pancreas(84;519 1450 1802 20427 34706)												0													163	135	145					15																	45047271		2198	4298	6496	SO:0001819	synonymous_variant	0			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.180C>T	15.37:g.45047271C>T			A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.F60	ENST00000559390.1	37	c.180	CCDS32220.1	15																																																																																			TRIM69	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000185880		0.448	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM69	HGNC	protein_coding	OTTHUMT00000416171.1	-	0	51	0	C			45047271	1	tier1	-	no_errors	ENST00000329464	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	T	T	45047271	C	T	45047271	2	4	133	1	0	0	0	0	0	0	0	1	16590	912	32	3		3	TRIM69	15	45047271	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	10607640	45047271	57484121	363	34285											
RNF111	54778	genome.wustl.edu	37	chr15	59373269	59373269	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtacatgctttccattctCaaatatcttctcatgcaaca	11	15	3	12	0	3	0	2	0	3	0	6	0	4	0	1	0	4	3	1	0	4	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr15:59373269C>T	ENST00000557998.1	+	8	2370	c.2083C>T	c.(2083-2085)Caa>Taa	p.Q695*	RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q695*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q695*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q695*|RNF111_ENST00000348370.4_Nonsense_Mutation_p.Q695*	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	695	Pro-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)		TTTCCATTCTCAAATATCTTC	0.507																																					NSCLC(72;983 1365 10746 34387 47081)												0													280	246	258					15																	59373269		2192	4291	6483	SO:0001587	stop_gained	0			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.2083C>T	15.37:g.59373269C>T	ENSP00000452732:p.Gln695*		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q695*	ENST00000557998.1	37	c.2083	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	C	42	9.771563	0.99260	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.31	5.31	0.75309	.	0.177305	0.47852	D	0.000201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-12.092	5.5772	0.17231	0.0:0.661:0.1771:0.1619	.	.	.	.	X	695	.	ENSP00000288199:Q695X	Q	+	1	0	RNF111	57160561	0.981000	0.34729	0.997000	0.53966	0.987000	0.75469	2.897000	0.48664	2.497000	0.84241	0.467000	0.42956	CAA	RNF111	-	NULL	ENSG00000157450		0.507	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	0	127	0	C	NM_017610		59373269	1	tier1	-	no_errors	ENST00000434298	ensembl	human	known	74_37	nonsense	7.63	121	10	SNP	0.239	T	T	59373269	C	T	59373269	4	4	133	1	0	0	0	0	0	1	0	0	13470	827	29	3	2109	3	RNF111	15	59373269	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	14325998	59373269	43158123	364	34286											
SPESP1	246777	genome.wustl.edu	37	chr15	69238242	69238242	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtaccccattctggtcGatcaaaccaaacaatgtttc	14	10	6	11	1	2	0	1	0	1	0	4	2	2	0	3	1	3	2	3	1	5	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr15:69238242G>T	ENST00000310673.3	+	2	523	c.369G>T	c.(367-369)tcG>tcT	p.S123S	NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_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	123					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						CATTCTGGTCGATCAAACCAA	0.433																																																	0													56	57	56					15																	69238242		2200	4298	6498	SO:0001819	synonymous_variant	0			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.369G>T	15.37:g.69238242G>T			Q8NG22|Q8WVH8	Silent	SNP	NULL	p.S123	ENST00000310673.3	37	c.369	CCDS10230.1	15																																																																																			SPESP1	-	NULL	ENSG00000258484		0.433	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPESP1	HGNC	protein_coding	OTTHUMT00000257125.1		0	24	0	G	NM_145658		69238242	1			no_errors	ENST00000310673	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.007	T	T	69238242	G	T	69238242	2	4	133	1	0	0	0	0	0	0	0	1	15087	1045	37	2		2	SPESP1	15	69238242	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	9864973	69238242	33293150	365	34287											
AGPHD1	123688	genome.wustl.edu	37	chr15	78805449	78805449	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatgtcaagtggaaactatCagcagtcagaggctcttagc	13	10	10	8	0	4	1	3	0	1	1	4	2	4	2	0	2	3	2	0	2	5	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr15:78805449C>T	ENST00000569878.1	+	1	19	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	HYKK_ENST00000566332.1_Nonsense_Mutation_p.Q7*|HYKK_ENST00000360519.3_Nonsense_Mutation_p.Q7*|HYKK_ENST00000408962.2_Nonsense_Mutation_p.Q7*|HYKK_ENST00000563233.1_Nonsense_Mutation_p.Q7*|HYKK_ENST00000388988.4_Nonsense_Mutation_p.Q7*			A2RU49	HYKK_HUMAN	hydroxylysine kinase	7						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										TGGAAACTATCAGCAGTCAGA	0.423																																																	0													58	58	58					15																	78805449		2020	4183	6203	SO:0001587	stop_gained	0			BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"5-hydroxylysine kinase"	614681	"aminoglycoside phosphotransferase domain containing 1"	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.19C>T	15.37:g.78805449C>T	ENSP00000455459:p.Gln7*		B7ZMA5|F8W6X5|Q6ZTN0	Nonsense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.Q7*	ENST00000569878.1	37	c.19	CCDS42063.1	15	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441770	0.83993	.	.	ENSG00000188266	ENST00000408962;ENST00000388988;ENST00000360519	.	.	.	5.73	2.74	0.32292	.	1.013360	0.07891	N	0.971151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-5.3976	6.3318	0.21274	0.1286:0.6619:0.0:0.2095	.	.	.	.	X	7	.	ENSP00000353710:Q7X	Q	+	1	0	AGPHD1	76592504	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.198000	0.09505	0.311000	0.23014	0.655000	0.94253	CAG	HYKK	-	NULL	ENSG00000188266		0.423	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HYKK	HGNC	protein_coding	OTTHUMT00000435834.1		0	40	0	C	NM_001013619		78805449	1			no_errors	ENST00000388988	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	0.000	T	T	78805449	C	T	78805449	4	4	133	1	0	0	0	0	0	1	0	0	393	827	29	3	21	3	AGPHD1	15	78805449	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	9567207	78805449	23725943	366	34288											
PSMA4	5685	genome.wustl.edu	37	chr15	78834886	78834886	+	Silent	SNP	A	A	T	1	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	catgcaggcacctgtttgggAattttagcaaatgatggtgt	10	13	12	6	0	0	1	0	1	0	0	0	2	0	2	1	3	2	4	1	3	3	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr15:78834886A>T	ENST00000044462.7	+	4	258	c.108A>T	c.(106-108)ggA>ggT	p.G36G	PSMA4_ENST00000558281.1_Silent_p.G36G|PSMA4_ENST00000558341.1_Silent_p.G36G|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000559082.1_Silent_p.G36G|PSMA4_ENST00000560217.1_Intron|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000558094.1_5'Flank	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	36					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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCTGTTTGGGAATTTTAGCAA	0.398																																																	0													191	192	191					15																	78834886		2196	4293	6489	SO:0001819	synonymous_variant	0			BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"Proteasome (prosome, macropain) subunits"	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.108A>T	15.37:g.78834886A>T			D3DW86|Q53XP2|Q567Q5|Q8TBD1	Silent	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.G36	ENST00000044462.7	37	c.108	CCDS10303.1	15																																																																																			PSMA4	-	pfam_Proteasome_sua/b	ENSG00000041357		0.398	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA4	HGNC	protein_coding	OTTHUMT00000290107.5		0	86	0	A	NM_002789		78834886	1			no_errors	ENST00000044462	ensembl	human	known	74_37	silent	6.09	108	7	SNP	0.981	T	T	78834886	A	T	78834886	2	4	133	1	0	0	0	0	0	0	0	1	12711	233	9	5		5	PSMA4	15	78834886	Silent	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	29437	78834886	23696506	367	34289											
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84539610	84539610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacacagctttaacagccccGgcgtctttctcgtagaaaac	12	9	7	13	3	2	1	0	0	2	1	3	1	2	1	2	1	5	2	2	1	5	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr15:84539610G>A	ENST00000286744.5	+	9	1083	c.859G>A	c.(859-861)Ggc>Agc	p.G287S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G287S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	287						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TAACAGCCCCGGCGTCTTTCT	0.378																																																	0													57	63	61					15																	84539610		2203	4300	6503	SO:0001583	missense	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.859G>A	15.37:g.84539610G>A	ENSP00000286744:p.Gly287Ser		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS	p.G287S	ENST00000286744.5	37	c.859	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917445	0.52546	.	.	ENSG00000156218	ENST00000286744	T	0.66995	-0.24	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.88181	2.935	0.48087	D	0.999581	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87922	0.2704	10	0.72032	D	0.01	.	16.3709	0.83357	0.0:0.0:1.0:0.0	.	287;287	P82987-2;P82987	.;ATL3_HUMAN	S	287	ENSP00000286744:G287S	ENSP00000286744:G287S	G	+	1	0	ADAMTSL3	82330614	1.000000	0.71417	0.052000	0.19188	0.058000	0.15608	6.768000	0.74980	2.129000	0.65627	0.462000	0.41574	GGC	ADAMTSL3	-	NULL	ENSG00000156218		0.378	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	-	0	112	0	G	NM_207517		84539610	1	tier1	-	no_errors	ENST00000286744	ensembl	human	known	74_37	missense	6.21	136	9	SNP	0.866	A	A	84539610	G	A	84539610	3	1	133	1	0	0	0	0	1	0	0	0	276	1116	39	1	889	1	ADAMTSL3	15	84539610	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5704724	84539610	17991782	368	34290											
ZNF592	9640	genome.wustl.edu	37	chr15	85326476	85326476	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctctggctaagtttccGgttccagagctgcatatgtt	7	13	12	9	1	1	1	0	0	1	1	3	2	3	1	2	3	2	7	2	3	2	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr15:85326476G>T	ENST00000560079.2	+	4	858	c.570G>T	c.(568-570)ccG>ccT	p.P190P	ZNF592_ENST00000299927.3_Silent_p.P190P	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	190					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)			CTAAGTTTCCGGTTCCAGAGC	0.542																																																	0													69	83	79					15																	85326476		2202	4298	6500	SO:0001819	synonymous_variant	0			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.570G>T	15.37:g.85326476G>T			Q2M1T2|Q504Y9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P190	ENST00000560079.2	37	c.570	CCDS32317.1	15																																																																																			ZNF592	-	NULL	ENSG00000166716		0.542	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	-	0	43	0	G	NM_014630		85326476	1	tier1	-	no_errors	ENST00000299927	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.054	T	T	85326476	G	T	85326476	2	4	133	1	0	0	0	0	0	0	0	1	18070	1103	39	2		2	ZNF592	15	85326476	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	786866	85326476	17204916	369	34291											
ANPEP	290	genome.wustl.edu	37	chr15	90347795	90347795	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggggcccgtcacgttcagGgcataatcgccgtggcccgc	6	7	14	14	5	2	0	2	0	0	0	3	0	2	0	3	4	0	2	3	4	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr15:90347795G>T	ENST00000300060.6	-	5	1264	c.951C>A	c.(949-951)gcC>gcA	p.A317A	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	317	Interaction with HCoV-229E.|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)	TCACGTTCAGGGCATAATCGC	0.592																																					NSCLC(30;827 977 2459 19669 26125)												0													79	83	81					15																	90347795		2200	4299	6499	SO:0001819	synonymous_variant	0			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.951C>A	15.37:g.90347795G>T			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.A317	ENST00000300060.6	37	c.951	CCDS10356.1	15																																																																																			ANPEP	-	pfam_Peptidase_M1_N	ENSG00000166825		0.592	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	-	0	45	0	G			90347795	-1	tier1	-	no_errors	ENST00000300060	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.997	T	T	90347795	G	T	90347795	2	4	133	1	0	0	0	0	0	0	0	1	710	1219	43	3		3	ANPEP	15	90347795	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5021319	90347795	12183597	370	34292											
CRTC3	64784	genome.wustl.edu	37	chr15	91136924	91136924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccatcacgggctggtggaGaggccatccaggaaccgctt	8	6	14	13	3	1	1	1	0	0	1	2	3	2	2	4	5	1	2	4	5	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr15:91136924G>C	ENST00000268184.6	+	3	292	c.288G>C	c.(286-288)gaG>gaC	p.E96D	CRTC3_ENST00000560098.1_Intron|CTD-3065B20.2_ENST00000558389.1_RNA|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000420329.2_Missense_Mutation_p.E96D			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	96	Required for interaction with HTLV-1 TAX.				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)			GGCTGGTGGAGAGGCCATCCA	0.537			T	MAML2	salivary gland mucoepidermoid																																			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0													75	79	78					15																	91136924		2198	4298	6496	SO:0001583	missense	0				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.288G>C	15.37:g.91136924G>C	ENSP00000268184:p.Glu96Asp		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	NULL	p.E96D	ENST00000268184.6	37	c.288	CCDS32331.1	15	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774703	0.49786	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.12879	2.67;2.64	5.67	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.13798	0.0334	N	0.24115	0.695	0.51482	D	0.999929	B;B	0.32128	0.244;0.357	B;P	0.45794	0.298;0.493	T	0.06881	-1.0802	10	0.07813	T	0.8	-23.5152	13.2036	0.59782	0.0816:0.0:0.9184:0.0	.	96;96	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	D	60;96;96	ENSP00000268184:E96D;ENSP00000416573:E96D	ENSP00000268184:E96D	E	+	3	2	CRTC3	88937928	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.207000	0.42788	2.836000	0.97738	0.655000	0.94253	GAG	CRTC3	-	NULL	ENSG00000140577		0.537	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2	-	0	86	0	G	NM_022769		91136924	1	tier1	-	no_errors	ENST00000268184	ensembl	human	known	74_37	missense	5.21	91	5	SNP	1.000	C	C	91136924	G	C	91136924	3	2	133	1	0	0	0	0	1	0	0	0	3908	933	33	5	298	5	CRTC3	15	91136924	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	789129	91136924	11394468	371	34293											
TARSL2	123283	genome.wustl.edu	37	chr15	102215856	102215856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggaagttttccggccttgTtgacaggtttaattgaaagg	10	14	12	5	1	0	2	0	2	0	0	1	3	1	3	2	4	0	3	2	4	4	8			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr15:102215856T>C	ENST00000335968.3	-	13	1951	c.1735A>G	c.(1735-1737)Aca>Gca	p.T579A		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	579					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCGGCCTTGTTGACAGGTTT	0.398																																																	0													145	137	140					15																	102215856		2203	4300	6503	SO:0001583	missense	0			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1735A>G	15.37:g.102215856T>C	ENSP00000338093:p.Thr579Ala		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.T579A	ENST00000335968.3	37	c.1735	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556504	0.86231	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.68479	-0.33;-0.33	5.28	5.28	0.74379	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	D	0.89969	0.6869	H	0.99806	4.795	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.971	D	0.93830	0.7127	10	0.87932	D	0	-16.4343	13.1642	0.59560	0.0:0.0:0.0:1.0	.	579;484	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	A	579;484;579	ENSP00000338093:T579A;ENSP00000439899:T579A	ENSP00000329291:T484A	T	-	1	0	TARSL2	100033379	1.000000	0.71417	0.967000	0.41034	0.977000	0.68977	7.824000	0.86668	1.996000	0.58369	0.482000	0.46254	ACA	TARSL2	-	pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	ENSG00000185418		0.398	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	-	0	86	0	T	NM_152334		102215856	-1	tier1	-	no_errors	ENST00000335968	ensembl	human	known	74_37	missense	7.08	105	8	SNP	1.000	C	C	102215856	T	C	102215856	3	2	133	1	0	0	0	0	1	0	0	0	15608	1725	60	4	701	4	TARSL2	15	102215856	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	11078932	102215856	315536	372	34294											
PDIA2	64714	genome.wustl.edu	37	chr16	336368	336368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagccctatctcctgagcCaggagataccccctgattgg	8	8	9	16	0	1	3	0	2	1	1	2	4	1	3	6	2	3	0	6	2	2	3	rs199813441		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:336368C>A	ENST00000219406.6	+	8	1153	c.1135C>A	c.(1135-1137)Cag>Aag	p.Q379K	PDIA2_ENST00000404312.1_Missense_Mutation_p.Q376K	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	379	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)				TCTCCTGAGCCAGGAGATACC	0.587																																																	0													47	52	50					16																	336368		1875	4100	5975	SO:0001583	missense	0			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.1135C>A	16.37:g.336368C>A	ENSP00000219406:p.Gln379Lys		A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase	p.Q379K	ENST00000219406.6	37	c.1135	CCDS42089.1	16	.	.	.	.	.	.	.	.	.	.	c	10.95	1.496157	0.26774	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.14022	2.54;2.54	4.04	4.04	0.47022	Thioredoxin-like fold (3);	0.134375	0.49916	D	0.000135	T	0.25158	0.0611	M	0.67517	2.055	0.37160	D	0.902544	P	0.51537	0.946	P	0.53062	0.717	T	0.13872	-1.0493	10	0.87932	D	0	.	10.4388	0.44452	0.0:0.6637:0.3363:0.0	.	379	Q13087	PDIA2_HUMAN	K	379;348;376	ENSP00000219406:Q379K;ENSP00000384410:Q376K	ENSP00000219406:Q379K	Q	+	1	0	PDIA2	276369	0.157000	0.22836	0.984000	0.44739	0.888000	0.51559	0.818000	0.27295	2.112000	0.64535	0.479000	0.44913	CAG	PDIA2	-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000185615		0.587	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDIA2	HGNC	protein_coding	OTTHUMT00000139315.3	-	0	80	0	C	NM_006849		336368	1	tier1	-	no_errors	ENST00000219406	ensembl	human	known	74_37	missense	8.08	91	8	SNP	0.998	A	A	336368	C	A	336368	3	1	133	1	0	0	0	0	1	0	0	0	11707	595	21	3	1165	3	PDIA2	16	336368	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		336368	90018385	373	34295											
TPSAB1	7177	genome.wustl.edu	37	chr16	1291473	1291473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccctcagggtgcaactgcGggagcagcacctctactacc	8	6	11	16	2	2	0	1	0	1	0	2	1	2	1	3	2	7	3	3	2	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:1291473G>T	ENST00000338844.3	+	4	305	c.272G>T	c.(271-273)cGg>cTg	p.R91L	TPSAB1_ENST00000461509.2_Missense_Mutation_p.R98L	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	91	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)				GTGCAACTGCGGGAGCAGCAC	0.677																																																	0													6	7	7					16																	1291473		2067	4073	6140	SO:0001583	missense	0			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.272G>T	16.37:g.1291473G>T	ENSP00000343577:p.Arg91Leu		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R91L	ENST00000338844.3	37	c.272	CCDS10431.1	16	.	.	.	.	.	.	.	.	.	.	g	9.929	1.214375	0.22289	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.81579	-1.51;-1.51	3.38	1.37	0.22104	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.549745	0.15084	N	0.281496	T	0.76990	0.4065	N	0.14661	0.345	0.09310	N	1	D;D	0.76494	0.998;0.999	D;D	0.73708	0.968;0.981	T	0.64542	-0.6383	10	0.62326	D	0.03	.	5.7408	0.18092	0.2585:0.0:0.7415:0.0	.	82;91	Q15661-2;Q15661	.;TRYB1_HUMAN	L	91;98	ENSP00000343577:R91L;ENSP00000418247:R98L	ENSP00000343577:R91L	R	+	2	0	TPSAB1	1231474	0.000000	0.05858	0.488000	0.27440	0.388000	0.30384	0.188000	0.17018	0.271000	0.22005	-0.346000	0.07831	CGG	TPSAB1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000172236		0.677	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1		0	53	0	G	NM_003294		1291473	1			no_errors	ENST00000338844	ensembl	human	known	74_37	missense	8.82	62	6	SNP	0.005	T	T	1291473	G	T	1291473	3	4	133	1	0	0	0	0	1	0	0	0	16471	1116	39	2	282	2	TPSAB1	16	1291473	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	955105	1291473	89063280	374	34296											
NDUFB10	4716	genome.wustl.edu	37	chr16	2011893	2011893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctgcaaaagaggccgccGctgccacctcctgaggcagc	10	4	12	15	2	0	2	0	1	0	1	1	2	1	2	5	2	4	4	5	2	3	0	rs375613670		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:2011893G>A	ENST00000268668.6	+	4	622	c.505G>A	c.(505-507)Gct>Act	p.A169T	NDUFB10_ENST00000543683.2_3'UTR|NDUFB10_ENST00000569148.1_Missense_Mutation_p.A158T|SNORA10_ENST00000384084.1_RNA|SNORA64_ENST00000384674.1_RNA	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	169					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)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						AGAGGCCGCCGCTGCCACCTC	0.582																																																	0								G	THR/ALA	1,4339		0,1,2169	17	22	20		505	3.8	0.7	16		20	1,8493		0,1,4246	no	missense	NDUFB10	NM_004548.2	58	0,2,6415	AA,AG,GG		0.0118,0.023,0.0156	benign	169/173	2011893	2,12832	2170	4247	6417	SO:0001583	missense	0			AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"Mitochondrial respiratory chain complex / Complex I"	7696	protein-coding gene	gene with protein product	"complex I PDSW subunit"	603843	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.505G>A	16.37:g.2011893G>A	ENSP00000268668:p.Ala169Thr		Q96II6	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_su10	p.A169T	ENST00000268668.6	37	c.505	CCDS10451.1	16	.	.	.	.	.	.	.	.	.	.	g	13.51	2.257848	0.39896	2.3E-4	1.18E-4	ENSG00000140990	ENST00000268668	.	.	.	4.75	3.79	0.43588	.	0.000000	0.32028	U	0.006684	T	0.35682	0.0940	M	0.68317	2.08	0.19945	N	0.999944	B	0.28470	0.213	B	0.16289	0.015	T	0.33394	-0.9870	9	0.49607	T	0.09	.	6.6561	0.22988	0.0979:0.1811:0.721:0.0	.	169	O96000	NDUBA_HUMAN	T	169	.	ENSP00000268668:A169T	A	+	1	0	NDUFB10	1951894	0.362000	0.24980	0.677000	0.29947	0.108000	0.19459	1.922000	0.40045	1.010000	0.39314	0.563000	0.77884	GCT	NDUFB10	-	NULL	ENSG00000140990		0.582	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB10	HGNC	protein_coding	OTTHUMT00000250614.2		0	61	0	G	NM_004548		2011893	1			no_errors	ENST00000268668	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.374	A	A	2011893	G	A	2011893	3	1	133	1	0	0	0	0	1	0	0	0	10318	1087	38	1	519	1	NDUFB10	16	2011893	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	720420	2011893	88342860	375	34297											
BTBD12	84464	genome.wustl.edu	37	chr16	3640930	3640930	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacggctccatctcctcCaccttgtcccactgtttctg	5	13	5	18	1	2	0	0	0	2	0	7	0	6	0	6	1	1	2	6	1	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:3640930C>A	ENST00000294008.3	-	12	3349	c.2709G>T	c.(2707-2709)gtG>gtT	p.V903V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	903	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCATCTCCTCCACCTTGTCCC	0.652								Direct reversal of damage																																									0													85	85	85					16																	3640930		2197	4300	6497	SO:0001819	synonymous_variant	0			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.2709G>T	16.37:g.3640930C>A			Q69YT8|Q8TF15|Q96JP1	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.V903	ENST00000294008.3	37	c.2709	CCDS10506.2	16																																																																																			SLX4	-	NULL	ENSG00000188827		0.652	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	-	0	89	0	C	NM_032444		3640930	-1	tier1	-	no_errors	ENST00000294008	ensembl	human	known	74_37	silent	11.82	97	13	SNP	0.001	A	A	3640930	C	A	3640930	2	1	133	1	0	0	0	0	0	0	0	1	1544	581	21	3		3	BTBD12	16	3640930	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1629037	3640930	86713823	376	34298											
CREBBP	1387	genome.wustl.edu	37	chr16	3778029	3778029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagaccgcacctggttaCtaagggacgtggcgatctgc	8	8	14	11	3	1	1	0	0	1	1	1	4	1	2	2	4	2	2	2	4	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:3778029C>T	ENST00000262367.5	-	31	7828	c.7019G>A	c.(7018-7020)aGt>aAt	p.S2340N	CREBBP_ENST00000382070.3_Missense_Mutation_p.S2302N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2340					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)		CACCTGGTTACTAAGGGACGT	0.657			"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													89	87	87					16																	3778029		2197	4300	6497	SO:0001583	missense	0			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.7019G>A	16.37:g.3778029C>T	ENSP00000262367:p.Ser2340Asn		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S2340N	ENST00000262367.5	37	c.7019	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	c	13.14	2.148368	0.37923	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.83992	-1.79;-1.72	5.35	5.35	0.76521	.	0.109437	0.64402	D	0.000005	T	0.74122	0.3675	N	0.19112	0.55	0.58432	D	0.999997	B;B	0.27498	0.18;0.18	B;B	0.21546	0.035;0.035	T	0.71695	-0.4515	10	0.49607	T	0.09	-6.477	18.4233	0.90598	0.0:1.0:0.0:0.0	.	2370;2340	Q4LE28;Q92793	.;CBP_HUMAN	N	2340;2370;2302;875	ENSP00000262367:S2340N;ENSP00000371502:S2302N	ENSP00000262367:S2340N	S	-	2	0	CREBBP	3718030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.691000	0.68249	2.668000	0.90789	0.655000	0.94253	AGT	CREBBP	-	NULL	ENSG00000005339		0.657	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	-	0	111	0	C	NM_004380		3778029	-1	tier1	-	no_errors	ENST00000262367	ensembl	human	known	74_37	missense	6.25	120	8	SNP	1.000	T	T	3778029	C	T	3778029	3	4	133	1	0	0	0	0	1	0	0	0	3868	565	20	3	313	3	CREBBP	16	3778029	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	137099	3778029	86576724	377	34299											
DNAJA3	9093	genome.wustl.edu	37	chr16	4492341	4492341	+	Missense_Mutation	SNP	A	A	T	1	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	tcaccgtgaacatcatggacAcgtgtgagcgctgcaacggc	10	7	12	12	4	2	2	2	2	0	0	2	3	2	3	1	2	4	2	1	2	2	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:4492341A>T	ENST00000262375.6	+	5	780	c.703A>T	c.(703-705)Acg>Tcg	p.T235S	DNAJA3_ENST00000355296.4_Missense_Mutation_p.T235S|DNAJA3_ENST00000431375.2_Missense_Mutation_p.T82S	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	235					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						CATCATGGACACGTGTGAGCG	0.552																																																	0													113	100	105					16																	4492341		2197	4300	6497	SO:0001583	missense	0			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.703A>T	16.37:g.4492341A>T	ENSP00000262375:p.Thr235Ser		B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.T235S	ENST00000262375.6	37	c.703	CCDS10515.1	16	.	.	.	.	.	.	.	.	.	.	A	9.896	1.205553	0.22205	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.63744	-0.06;-0.06;0.94	5.78	3.29	0.37713	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (3);	0.227351	0.46145	D	0.000316	T	0.47135	0.1429	L	0.43923	1.385	0.09310	N	0.999997	B;B;B	0.22746	0.028;0.016;0.074	B;B;B	0.23018	0.015;0.022;0.043	T	0.23833	-1.0177	10	0.15066	T	0.55	-23.5652	6.7207	0.23328	0.6197:0.0:0.0727:0.3076	.	82;235;235	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	S	235;235;82	ENSP00000262375:T235S;ENSP00000347445:T235S;ENSP00000393970:T82S	ENSP00000262375:T235S	T	+	1	0	DNAJA3	4432342	0.082000	0.21442	0.015000	0.15790	0.471000	0.32888	0.501000	0.22578	0.991000	0.38814	0.383000	0.25322	ACG	DNAJA3	-	pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,pfscan_HSP_DnaJ_Cys-rich_dom	ENSG00000103423		0.552	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAJA3	HGNC	protein_coding	OTTHUMT00000251633.1		0	62	0	A			4492341	1			no_errors	ENST00000262375	ensembl	human	known	74_37	missense	5.08	55	3	SNP	0.015	T	T	4492341	A	T	4492341	3	4	133	1	0	0	0	0	1	0	0	0	4627	159	6	5	721	5	DNAJA3	16	4492341	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	714312	4492341	85862412	378	34300											
DNAJA3	9093	genome.wustl.edu	37	chr16	4496970	4496970	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atagctcaggctcttcttggGggtacagccagagcccaggg	8	8	14	11	0	3	1	1	0	2	1	3	1	3	1	2	4	4	3	2	4	2	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:4496970G>T	ENST00000262375.6	+	8	1157	c.1080G>T	c.(1078-1080)ggG>ggT	p.G360G	DNAJA3_ENST00000355296.4_Silent_p.G360G|DNAJA3_ENST00000431375.2_Silent_p.G207G	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	360					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						CTCTTCTTGGGGGTACAGCCA	0.527																																																	0													69	71	71					16																	4496970		2197	4300	6497	SO:0001819	synonymous_variant	0			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.1080G>T	16.37:g.4496970G>T			B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Silent	SNP	pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.G360	ENST00000262375.6	37	c.1080	CCDS10515.1	16																																																																																			DNAJA3	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd	ENSG00000103423		0.527	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAJA3	HGNC	protein_coding	OTTHUMT00000251633.1		0	48	0	G			4496970	1			no_errors	ENST00000262375	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.709	T	T	4496970	G	T	4496970	2	4	133	1	0	0	0	0	0	0	0	1	4627	1219	43	3		3	DNAJA3	16	4496970	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	4629	4496970	85857783	379	34301											
FAM18A	780776	genome.wustl.edu	37	chr16	10864159	10864159	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaatctccagcccctcgagGccaggcttctgaaagtcacc	9	8	9	15	1	3	2	1	2	2	0	5	3	3	2	5	2	1	1	5	2	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:10864159G>C	ENST00000299866.8	-	7	903	c.612C>G	c.(610-612)ggC>ggG	p.G204G	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	204						integral component of membrane (GO:0016021)											GCCCCTCGAGGCCAGGCTTCT	0.552																																																	0													32	34	33					16																	10864159		1778	3851	5629	SO:0001819	synonymous_variant	0				CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"family with sequence similarity 18, member A"	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.612C>G	16.37:g.10864159G>C			B2RUV4|B7ZW18	Silent	SNP	pfam_DUF846_euk	p.G204	ENST00000299866.8	37	c.612	CCDS45408.1	16																																																																																			TVP23A	-	NULL	ENSG00000166676		0.552	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TVP23A	HGNC	protein_coding	OTTHUMT00000436680.1	-	0	40	0	G	NM_001079512		10864159	-1	tier1	-	no_errors	ENST00000299866	ensembl	human	known	74_37	silent	20.63	50	13	SNP	0.008	C	C	10864159	G	C	10864159	2	2	133	1	0	0	0	0	0	0	0	1	5537	1190	42	5		5	FAM18A	16	10864159	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	6367189	10864159	79490594	380	34302											
NOMO2	283820	genome.wustl.edu	37	chr16	18540863	18540863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggaacatctcagcatgtagCccgtctgcctgaactcaact	10	9	9	13	1	3	1	2	1	2	0	4	2	3	2	2	1	6	2	2	1	4	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:18540863C>A	ENST00000381474.3	-	15	1831	c.1766G>T	c.(1765-1767)gGc>gTc	p.G589V	NOMO2_ENST00000543392.1_Missense_Mutation_p.G422V|NOMO2_ENST00000330537.6_Missense_Mutation_p.G589V	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	589						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CAGCATGTAGCCCGTCTGCCT	0.512																																																	0													10	8	9					16																	18540863		2176	4245	6421	SO:0001583	missense	0			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1766G>T	16.37:g.18540863C>A	ENSP00000370883:p.Gly589Val		Q4G177	Missense_Mutation	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.G589V	ENST00000381474.3	37	c.1766	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	.	18.82	3.704311	0.68615	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.26518	1.91;1.78;1.73	3.0	3.0	0.34707	.	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60193	-0.7311	10	0.72032	D	0.01	-21.641	13.4203	0.60994	0.0:1.0:0.0:0.0	.	422;589	Q4G177;Q5JPE7	.;NOMO2_HUMAN	V	589;589;422	ENSP00000331851:G589V;ENSP00000370883:G589V;ENSP00000439970:G422V	ENSP00000331851:G589V	G	-	2	0	NOMO2	18448364	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	7.587000	0.82613	1.657000	0.50732	0.305000	0.20034	GGC	NOMO2	-	NULL	ENSG00000185164		0.512	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1		0	137	0	C	NM_001004060		18540863	-1			no_errors	ENST00000381474	ensembl	human	known	74_37	missense	6.82	123	9	SNP	1.000	A	A	18540863	C	A	18540863	3	1	133	1	0	0	0	0	1	0	0	0	10571	739	26	3	2113	3	NOMO2	16	18540863	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	7676704	18540863	71813890	381	34303											
GPRC5B	51704	genome.wustl.edu	37	chr16	19873269	19873269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctttttcccaagctgcCgttgggaaatcctgctgttc	5	14	11	11	1	1	0	0	0	1	0	4	1	3	1	3	2	3	4	3	2	2	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:19873269C>A	ENST00000300571.2	-	3	1248	c.1057G>T	c.(1057-1059)Ggc>Tgc	p.G353C	GPRC5B_ENST00000537135.1_Missense_Mutation_p.G379C|GPRC5B_ENST00000569479.1_Missense_Mutation_p.G353C|GPRC5B_ENST00000569847.1_Missense_Mutation_p.G353C|GPRC5B_ENST00000535671.1_Missense_Mutation_p.G353C	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	353					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.G353S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCCAAGCTGCCGTTGGGAAAT	0.512																																																	2	Substitution - Missense(2)	lung(1)|prostate(1)											61	55	57					16																	19873269		2197	4300	6497	SO:0001583	missense	0			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1057G>T	16.37:g.19873269C>A	ENSP00000300571:p.Gly353Cys		D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.G379C	ENST00000300571.2	37	c.1135	CCDS10581.1	16	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090238	0.76756	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.33865	1.42;1.44;1.39	5.38	4.43	0.53597	.	0.217634	0.38605	N	0.001640	T	0.50120	0.1597	L	0.43152	1.355	0.42338	D	0.992324	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.45086	-0.9285	9	.	.	.	.	13.1289	0.59369	0.0:0.9234:0.0:0.0766	.	379;353	B7Z831;Q9NZH0	.;GPC5B_HUMAN	C	353;353;202;379	ENSP00000300571:G353C;ENSP00000442858:G353C;ENSP00000441775:G379C	.	G	-	1	0	GPRC5B	19780770	0.997000	0.39634	0.994000	0.49952	0.946000	0.59487	3.604000	0.54081	1.276000	0.44395	-0.136000	0.14681	GGC	GPRC5B	-	NULL	ENSG00000167191		0.512	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	HGNC	protein_coding	OTTHUMT00000254285.1	-	0	55	0	C			19873269	-1	tier1	-	no_errors	ENST00000537135	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	A	A	19873269	C	A	19873269	3	1	133	1	0	0	0	0	1	0	0	0	6752	652	23	2	162	2	GPRC5B	16	19873269	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1332406	19873269	70481484	382	34304											
PRKCB	5579	genome.wustl.edu	37	chr16	24135200	24135200	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcccggaagaaaagacGaccaacactgtctccaaatt	16	6	8	11	2	1	2	0	0	1	2	3	4	2	3	3	2	1	0	3	2	6	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:24135200G>T	ENST00000321728.7	+	9	1138	c.963G>T	c.(961-963)acG>acT	p.T321T	PRKCB_ENST00000303531.7_Silent_p.T321T	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	321					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)	AAGAAAAGACGACCAACACTG	0.483																																																	0													140	131	134					16																	24135200		2197	4300	6497	SO:0001819	synonymous_variant	0			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.963G>T	16.37:g.24135200G>T			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.T321	ENST00000321728.7	37	c.963	CCDS10618.1	16																																																																																			PRKCB	-	superfamily_Kinase-like_dom,pirsf_Protein_kinase_C_a/b/g	ENSG00000166501		0.483	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	-	0	80	0	G	NM_212535		24135200	1	tier1	-	no_errors	ENST00000303531	ensembl	human	known	74_37	silent	10.67	67	8	SNP	0.000	T	T	24135200	G	T	24135200	2	4	133	1	0	0	0	0	0	0	0	1	12550	1045	37	2		2	PRKCB	16	24135200	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	4261931	24135200	66219553	383	34305											
XPO6	23214	genome.wustl.edu	37	chr16	28146539	28146539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcatgccgcttacatCgtcatccagagtctcatcat	9	11	8	13	2	4	1	4	0	1	1	7	1	5	1	2	1	2	2	2	1	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:28146539C>A	ENST00000304658.5	-	10	1941	c.1441G>T	c.(1441-1443)Gat>Tat	p.D481Y	XPO6_ENST00000565698.1_Missense_Mutation_p.D467Y	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	481					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						CCGCTTACATCGTCATCCAGA	0.512																																																	0													130	129	129					16																	28146539		2036	4179	6215	SO:0001583	missense	0			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.1441G>T	16.37:g.28146539C>A	ENSP00000302790:p.Asp481Tyr		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.D481Y	ENST00000304658.5	37	c.1441	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063292	0.76187	.	.	ENSG00000169180	ENST00000304658	T	0.69685	-0.42	5.31	5.31	0.75309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.964	T	0.80450	-0.1377	10	0.66056	D	0.02	-12.7871	16.4733	0.84124	0.0:1.0:0.0:0.0	.	481;481	B7ZM10;Q96QU8	.;XPO6_HUMAN	Y	481	ENSP00000302790:D481Y	ENSP00000302790:D481Y	D	-	1	0	XPO6	28054040	1.000000	0.71417	0.998000	0.56505	0.536000	0.34869	7.818000	0.86416	2.470000	0.83445	0.655000	0.94253	GAT	XPO6	-	superfamily_ARM-type_fold	ENSG00000169180		0.512	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	-	0	59	0	C	XM_055195		28146539	-1	tier1	-	no_errors	ENST00000304658	ensembl	human	known	74_37	missense	12.50	70	10	SNP	1.000	A	A	28146539	C	A	28146539	3	1	133	1	0	0	0	0	1	0	0	0	17497	884	31	2	1996	2	XPO6	16	28146539	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	4011339	28146539	62208214	384	34306											
ZNF646	9726	genome.wustl.edu	37	chr16	31087847	31087847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagcctggttaaccatcgtCggacccacgagactggcctt	8	8	12	13	3	0	1	0	0	0	1	2	4	0	3	4	4	2	1	4	4	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:31087847C>T	ENST00000394979.2	+	1	625	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	ZNF668_ENST00000300849.4_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.R68W|ZNF668_ENST00000564456.1_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	68					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						TAACCATCGTCGGACCCACGA	0.607																																																	0													109	68	82					16																	31087847		2197	4300	6497	SO:0001583	missense	0			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.202C>T	16.37:g.31087847C>T	ENSP00000378429:p.Arg68Trp		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R68W	ENST00000394979.2	37	c.202		16	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129681	0.56721	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.58652	0.32;0.32;0.32	5.9	3.94	0.45596	.	.	.	.	.	T	0.69628	0.3132	M	0.71206	2.165	0.25993	N	0.982224	D	0.89917	1.0	P	0.62014	0.897	T	0.60520	-0.7247	9	0.87932	D	0	-9.0592	8.3223	0.32136	0.2756:0.6523:0.0:0.0721	.	68	O15015-2	.	W	68	ENSP00000391271:R68W;ENSP00000300850:R68W;ENSP00000378429:R68W	ENSP00000300850:R68W	R	+	1	2	ZNF646	30995348	0.007000	0.16637	0.993000	0.49108	0.975000	0.68041	1.062000	0.30555	0.815000	0.34398	0.563000	0.77884	CGG	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167395		0.607	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0	51	0	C	NM_014699		31087847	1	tier1	-	no_errors	ENST00000300850	ensembl	human	known	74_37	missense	8.45	65	6	SNP	0.551	T	T	31087847	C	T	31087847	3	4	133	1	0	0	0	0	1	0	0	0	18110	875	31	1	204	1	ZNF646	16	31087847	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2941308	31087847	59266906	385	34307											
C16orf58	64755	genome.wustl.edu	37	chr16	31512031	31512031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaggcaaagacgatgCggcccagcatgccagttgaa	12	5	11	13	2	0	2	0	1	0	1	1	3	1	2	4	2	3	3	4	2	2	1	rs550615888		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:31512031C>A	ENST00000327237.2	-	3	476	c.437G>T	c.(436-438)cGc>cTc	p.R146L	C16orf58_ENST00000430477.2_Missense_Mutation_p.R4L|C16orf58_ENST00000567994.1_Missense_Mutation_p.R101L|C16orf58_ENST00000570164.1_Missense_Mutation_p.R146L			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	146						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						AAAGACGATGCGGCCCAGCAT	0.542																																																	0													91	87	88					16																	31512031		2197	4300	6497	SO:0001583	missense	0			AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.437G>T	16.37:g.31512031C>A	ENSP00000317579:p.Arg146Leu		Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	pfam_RUS2/WXR1	p.R146L	ENST00000327237.2	37	c.437	CCDS10715.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.521902	0.96416	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000541442;ENST00000430477	T;T	0.46451	0.87;0.87	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.83275	0.996;0.896	T	0.64757	-0.6332	10	0.38643	T	0.18	-17.7932	17.0016	0.86382	0.0:1.0:0.0:0.0	.	4;146	B4DJP2;Q96GQ5	.;CP058_HUMAN	L	146;100;146;4	ENSP00000317579:R146L;ENSP00000398074:R4L	ENSP00000317579:R146L	R	-	2	0	C16orf58	31419532	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.238000	0.65366	2.591000	0.87537	0.557000	0.71058	CGC	C16orf58	-	pfam_RUS2/WXR1	ENSG00000140688		0.542	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf58	HGNC	protein_coding	OTTHUMT00000255629.2	-	0	60	0	C	NM_022744		31512031	-1	tier1	-	no_errors	ENST00000327237	ensembl	human	known	74_37	missense	6.67	70	5	SNP	1.000	A	A	31512031	C	A	31512031	3	1	133	1	0	0	0	0	1	0	0	0	1827	768	27	2	1013	2	C16orf58	16	31512031	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	424184	31512031	58842722	386	34308											
LONP2	83752	genome.wustl.edu	37	chr16	48385645	48385645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagctgcctggatgaggttCttaatgcagcttttgatggt	8	14	12	7	0	1	2	0	2	1	0	1	3	1	3	1	3	4	4	1	3	2	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:48385645C>T	ENST00000285737.4	+	15	2584	c.2491C>T	c.(2491-2493)Ctt>Ttt	p.L831F	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.L787F	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						GGATGAGGTTCTTAATGCAGC	0.403																																																	0													86	81	83					16																	48385645		2200	4300	6500	SO:0001583	missense	0			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.2491C>T	16.37:g.48385645C>T	ENSP00000285737:p.Leu831Phe			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.L831F	ENST00000285737.4	37	c.2491	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838234	0.91117	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.40756	1.02;1.02	6.14	6.14	0.99180	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.117922	0.64402	D	0.000019	T	0.65688	0.2715	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63449	-0.6635	10	0.66056	D	0.02	-18.8378	20.8597	0.99761	0.0:1.0:0.0:0.0	.	787;831	B7ZKL7;Q86WA8	.;LONP2_HUMAN	F	831;560;787	ENSP00000285737:L831F;ENSP00000445426:L787F	ENSP00000285737:L831F	L	+	1	0	LONP2	46943146	1.000000	0.71417	0.983000	0.44433	0.912000	0.54170	6.023000	0.70848	2.937000	0.99478	0.650000	0.86243	CTT	LONP2	-	pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ	ENSG00000102910		0.403	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	-	0	54	0	C	NM_031490		48385645	1	tier1	-	no_errors	ENST00000285737	ensembl	human	known	74_37	missense	8.22	67	6	SNP	1.000	T	T	48385645	C	T	48385645	3	4	133	1	0	0	0	0	1	0	0	0	8928	913	32	3	2549	3	LONP2	16	48385645	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	16873614	48385645	41969108	387	34309											
AMFR	267	genome.wustl.edu	37	chr16	56396854	56396854	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctgaagcctccgttcCgcggcggcagccagcatcct	5	9	11	16	4	1	1	0	1	1	0	4	1	4	1	5	2	4	4	5	2	1	2	rs540896367	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:56396854C>G	ENST00000290649.5	-	14	2109	c.1899G>C	c.(1897-1899)gcG>gcC	p.A633A		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	633	VCP/p97-interacting motif (VIM).				aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GCCTCCGTTCCGCGGCGGCAG	0.642																																					Pancreas(2;144 323 39528)												0													45	36	39					16																	56396854		2198	4300	6498	SO:0001819	synonymous_variant	0			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1899G>C	16.37:g.56396854C>G			P26442|Q8IZ70	Silent	SNP	pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING	p.A633	ENST00000290649.5	37	c.1899	CCDS10758.1	16	.	.	.	.	.	.	.	.	.	.	C	8.886	0.952897	0.18431	.	.	ENSG00000159461	ENST00000314566	.	.	.	5.8	-11.6	0.00059	.	.	.	.	.	T	0.53690	0.1812	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76260	-0.3024	5	0.72032	D	0.01	-18.6453	7.3027	0.26430	0.1031:0.3113:0.4552:0.1304	.	.	.	.	P	56	.	ENSP00000313137:R56P	R	-	2	0	AMFR	54954355	0.000000	0.05858	0.003000	0.11579	0.924000	0.55760	-3.719000	0.00384	-4.313000	0.00057	-0.344000	0.07964	CGG	AMFR	-	NULL	ENSG00000159461		0.642	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMFR	HGNC	protein_coding	OTTHUMT00000256978.2	-	0	87	0	C			56396854	-1	tier1	-	no_errors	ENST00000290649	ensembl	human	known	74_37	silent	5.36	106	6	SNP	0.014	G	G	56396854	C	G	56396854	2	3	133	1	0	0	0	0	0	0	0	1	571	639	23	5		5	AMFR	16	56396854	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	8011209	56396854	33957899	388	34310											
GPR97	222487	genome.wustl.edu	37	chr16	57717928	57717928	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcctcctgaatctggcCttcttggtcaatgtggggag	5	14	12	10	0	3	1	1	1	2	0	5	2	5	2	3	4	0	1	3	4	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:57717928C>A	ENST00000333493.4	+	9	1127	c.966C>A	c.(964-966)gcC>gcA	p.A322A	GPR97_ENST00000327655.6_Silent_p.A112A|GPR97_ENST00000450388.3_Silent_p.A202A|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	322					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGAATCTGGCCTTCTTGGTCA	0.587																																																	0													91	92	91					16																	57717928		2198	4300	6498	SO:0001819	synonymous_variant	0			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.966C>A	16.37:g.57717928C>A			Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.A322	ENST00000333493.4	37	c.966	CCDS10786.1	16																																																																																			GPR97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000182885		0.587	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR97	HGNC	protein_coding	OTTHUMT00000257333.2	-	0	81	0	C	NM_170776		57717928	1	tier1	-	no_errors	ENST00000333493	ensembl	human	known	74_37	silent	6.38	86	6	SNP	0.006	A	A	57717928	C	A	57717928	2	1	133	1	0	0	0	0	0	0	0	1	6747	668	24	3		3	GPR97	16	57717928	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1321074	57717928	32636825	389	34311											
NOB1	28987	genome.wustl.edu	37	chr16	69788599	69788599	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgaatctcagtgaccacctCccggatggtgtaaatgttct	9	11	9	12	2	2	1	1	1	2	0	4	3	3	2	4	2	0	2	4	2	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:69788599C>A	ENST00000268802.5	-	2	123	c.94G>T	c.(94-96)Gag>Tag	p.E32*		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	32	PINc.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGACCACCTCCCGGATGGTG	0.637																																																	0													72	63	66					16																	69788599		2198	4300	6498	SO:0001587	stop_gained	0			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.94G>T	16.37:g.69788599C>A	ENSP00000268802:p.Glu32*		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Nonsense_Mutation	SNP	pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease	p.E32*	ENST00000268802.5	37	c.94	CCDS10884.1	16	.	.	.	.	.	.	.	.	.	.	C	34	5.317628	0.95682	.	.	ENSG00000141101	ENST00000268802	.	.	.	4.45	3.5	0.40072	.	0.196946	0.42682	U	0.000666	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4274	0.55556	0.0:0.9166:0.0:0.0834	.	.	.	.	X	32	.	.	E	-	1	0	NOB1	68346100	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	5.211000	0.65219	1.229000	0.43630	0.591000	0.81541	GAG	NOB1	-	smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease	ENSG00000141101		0.637	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOB1	HGNC	protein_coding	OTTHUMT00000268958.2	-	0	40	0	C	NM_014062		69788599	-1	tier1	-	no_errors	ENST00000268802	ensembl	human	known	74_37	nonsense	10.34	52	6	SNP	1.000	A	A	69788599	C	A	69788599	4	1	133	1	0	0	0	0	0	1	0	0	10550	864	30	3	1176	3	NOB1	16	69788599	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	12070671	69788599	20566154	390	34312											
ST3GAL2	6483	genome.wustl.edu	37	chr16	70428966	70428966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttccccaccacggcacagCgccggcactggtgggggtcc	6	5	14	16	3	0	0	0	0	0	0	2	0	2	0	5	5	1	3	5	5	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:70428966C>G	ENST00000393640.4	-	2	2559	c.452G>C	c.(451-453)cGc>cCc	p.R151P	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.R151P			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	151					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CACGGCACAGCGCCGGCACTG	0.632																																																	0													93	102	99					16																	70428966		2198	4300	6498	SO:0001583	missense	0			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.452G>C	16.37:g.70428966C>G	ENSP00000377257:p.Arg151Pro		O00654	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R151P	ENST00000393640.4	37	c.452	CCDS10890.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.604681	0.96626	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.35973	1.28;1.28	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	M	0.85299	2.745	0.80722	D	1	D	0.71674	0.998	D	0.65874	0.939	T	0.68697	-0.5340	10	0.72032	D	0.01	0.0222	20.1896	0.98226	0.0:1.0:0.0:0.0	.	151	Q16842	SIA4B_HUMAN	P	151	ENSP00000345477:R151P;ENSP00000377257:R151P	ENSP00000345477:R151P	R	-	2	0	ST3GAL2	68986467	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.001000	0.70685	2.873000	0.98535	0.561000	0.74099	CGC	ST3GAL2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000157350		0.632	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL2	HGNC	protein_coding	OTTHUMT00000268968.1	-	0	56	0	C	NM_006927		70428966	-1	tier1	-	no_errors	ENST00000342907	ensembl	human	known	74_37	missense	7.59	73	6	SNP	1.000	G	G	70428966	C	G	70428966	3	3	133	1	0	0	0	0	1	0	0	0	15262	768	27	5	620	5	ST3GAL2	16	70428966	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	640367	70428966	19925787	391	34313											
HYDIN	54768	genome.wustl.edu	37	chr16	71101239	71101239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	ctcttctccgatgccctccaCgtccaccacgagtgccagct	6	9	7	19	3	2	0	0	0	2	0	5	2	4	0	6	0	3	1	6	0	0	1	rs369466741		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:71101239C>A	ENST00000393567.2	-	15	2179	c.2029G>T	c.(2029-2031)Gtg>Ttg	p.V677L	HYDIN_ENST00000393550.2_Missense_Mutation_p.V692L|HYDIN_ENST00000288168.10_Missense_Mutation_p.V694L|HYDIN_ENST00000448089.2_Missense_Mutation_p.V677L|HYDIN_ENST00000448691.1_Missense_Mutation_p.V677L|HYDIN_ENST00000541601.1_Missense_Mutation_p.V694L|HYDIN_ENST00000538248.1_Missense_Mutation_p.V704L|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000321489.5_Missense_Mutation_p.V677L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	677					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)		p.V677L(3)|p.V692L(1)		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)				ATGCCCTCCACGTCCACCACG	0.522																																																	4	Substitution - Missense(4)	lung(4)											72	62	66					16																	71101239		2198	4300	6498	SO:0001583	missense	0			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.2029G>T	16.37:g.71101239C>A	ENSP00000377197:p.Val677Leu		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.V677L	ENST00000393567.2	37	c.2029	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834021	0.91036	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	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	4.99	4.99	0.66335	.	0.000000	0.30085	U	0.010441	T	0.70996	0.3288	M	0.83953	2.67	0.43300	D	0.995297	D;D;D;D;D	0.89917	0.968;0.968;0.983;0.968;1.0	D;D;P;P;D	0.81914	0.925;0.925;0.847;0.903;0.995	T	0.73049	-0.4105	10	0.41790	T	0.15	.	17.1332	0.86732	0.0:1.0:0.0:0.0	.	704;694;694;677;677	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	L	677;677;677;677;677;704;694;694;692	ENSP00000377197:V677L;ENSP00000398544:V677L;ENSP00000394826:V677L;ENSP00000314736:V677L;ENSP00000444970:V704L;ENSP00000437341:V694L;ENSP00000288168:V694L;ENSP00000377181:V692L	ENSP00000288168:V694L	V	-	1	0	HYDIN	69658740	0.997000	0.39634	0.964000	0.40570	0.978000	0.69477	3.660000	0.54496	2.332000	0.79248	0.603000	0.83216	GTG	HYDIN	-	NULL	ENSG00000157423		0.522	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	91	0	C			71101239	-1	tier1	-	no_errors	ENST00000448089	ensembl	human	known	74_37	missense	8.26	109	10	SNP	0.998	A	A	71101239	C	A	71101239	3	1	133	1	0	0	0	0	1	0	0	0	7494	536	19	2	13633	2	HYDIN	16	71101239	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	672273	71101239	19253514	392	34314											
BANP	54971	genome.wustl.edu	37	chr16	88052217	88052217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgtgtccaacctctcggGgcagggcaagcacgggaaga	9	5	16	11	2	1	1	0	0	1	1	3	2	2	2	2	5	2	4	2	5	3	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr16:88052217G>T	ENST00000393207.1	+	7	1036	c.815G>T	c.(814-816)gGg>gTg	p.G272V	BANP_ENST00000538234.1_Missense_Mutation_p.G280V|BANP_ENST00000355163.5_Missense_Mutation_p.G247V|BANP_ENST00000355022.4_Missense_Mutation_p.G241V|BANP_ENST00000479780.2_Missense_Mutation_p.G241V|BANP_ENST00000393208.2_Missense_Mutation_p.G241V|BANP_ENST00000286122.7_Missense_Mutation_p.G272V	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	272	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.|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)		AACCTCTCGGGGCAGGGCAAG	0.662																																																	0													35	23	27					16																	88052217		2192	4299	6491	SO:0001583	missense	0			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.815G>T	16.37:g.88052217G>T	ENSP00000376902:p.Gly272Val		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	pfam_BEN_domain	p.G272V	ENST00000393207.1	37	c.815	CCDS54054.1	16	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016851	0.93404	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32	5.2	5.2	0.72013	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.998;1.0	T	0.64118	-0.6482	9	.	.	.	.	17.7152	0.88335	0.0:0.0:1.0:0.0	.	280;247;241;272;241;241	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	V	272;247;237;241;241;241;241;280;272	ENSP00000286122:G272V;ENSP00000347290:G247V;ENSP00000432508:G241V;ENSP00000376903:G241V;ENSP00000347125:G241V;ENSP00000444352:G280V;ENSP00000376902:G272V	.	G	+	2	0	BANP	86609718	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.200000	0.95010	2.405000	0.81733	0.561000	0.74099	GGG	BANP	-	pfam_BEN_domain	ENSG00000172530		0.662	BANP-002	KNOWN	basic|CCDS	protein_coding	BANP	HGNC	protein_coding	OTTHUMT00000269166.1	-	0	73	0	G	NM_017869		88052217	1	tier1	-	no_errors	ENST00000286122	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	T	T	88052217	G	T	88052217	3	4	133	1	0	0	0	0	1	0	0	0	1311	1232	43	3	879	3	BANP	16	88052217	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	16950978	88052217	2302536	393	34315											
ATP2A3	489	genome.wustl.edu	37	chr17	3850765	3850765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	ggtgcagcccagggtctccaCggacggcaggcttcgcacga	7	5	15	14	4	1	0	0	0	1	0	3	2	1	1	2	5	2	4	2	5	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:3850765C>A	ENST00000352011.3	-	8	1069	c.1015G>T	c.(1015-1017)Gtg>Ttg	p.V339L	ATP2A3_ENST00000397043.3_Missense_Mutation_p.V339L|ATP2A3_ENST00000397035.3_Missense_Mutation_p.V339L|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000309890.7_Missense_Mutation_p.V339L|ATP2A3_ENST00000359983.3_Missense_Mutation_p.V339L|ATP2A3_ENST00000397041.3_Missense_Mutation_p.V339L			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	339					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGGGTCTCCACGGACGGCAGG	0.657																																					GBM(32;29 774 15719 37967)												0													95	75	81					17																	3850765		2203	4300	6503	SO:0001583	missense	0				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.1015G>T	17.37:g.3850765C>A	ENSP00000301387:p.Val339Leu		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.V339L	ENST00000352011.3	37	c.1015	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633887	0.87660	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	3.88	3.88	0.44766	ATPase, P-type, cytoplasmic domain N (1);ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95701	0.8602	M	0.88450	2.955	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.73380	0.98;0.96;0.976;0.96;0.96;0.96	D	0.96497	0.9368	10	0.87932	D	0	.	16.1086	0.81244	0.0:1.0:0.0:0.0	.	339;339;339;339;339;339	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	L	339	ENSP00000380236:V339L;ENSP00000301387:V339L;ENSP00000353072:V339L;ENSP00000380234:V339L;ENSP00000312577:V339L;ENSP00000380229:V339L	ENSP00000312577:V339L	V	-	1	0	ATP2A3	3797514	1.000000	0.71417	0.951000	0.38953	0.863000	0.49368	7.604000	0.82830	2.428000	0.82296	0.563000	0.77884	GTG	ATP2A3	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000074370		0.657	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	-	0	67	0	C	NM_174953		3850765	-1	tier1	-	no_errors	ENST00000359983	ensembl	human	known	74_37	missense	9.86	64	7	SNP	1.000	A	A	3850765	C	A	3850765	3	1	133	1	0	0	0	0	1	0	0	0	1139	536	19	2	2251	2	ATP2A3	17	3850765	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		3850765	77344445	394	34316											
ARRB2	409	genome.wustl.edu	37	chr17	4619267	4619267	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccccttgacatcctcaGctcaccgtgtacttgggcaa	8	10	9	14	1	2	2	2	2	0	0	3	2	3	2	4	1	2	3	4	1	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:4619267G>C	ENST00000269260.2	+	3	287		c.e3-1		ARRB2_ENST00000346341.2_Splice_Site|ARRB2_ENST00000570718.1_Splice_Site|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_Intron|ARRB2_ENST00000381488.6_Splice_Site|ARRB2_ENST00000575877.1_Splice_Site|ARRB2_ENST00000574954.1_Splice_Site|ARRB2_ENST00000412477.3_Splice_Site	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2						adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GACATCCTCAGCTCACCGTGT	0.592																																																	0													102	86	92					17																	4619267		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"arrestin 3"	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.55-1G>C	17.37:g.4619267G>C			B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Splice_Site	SNP	-	e3-1	ENST00000269260.2	37	c.55-1	CCDS11050.1	17	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166675	0.78339	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7228	0.77728	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARRB2	4566016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.441000	0.97557	2.314000	0.78098	0.563000	0.77884	.	ARRB2	-	-	ENSG00000141480		0.592	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRB2	HGNC	protein_coding	OTTHUMT00000439552.1	-	0	62	0	G	NM_004313	Intron	4619267	1	tier1	-	no_errors	ENST00000269260	ensembl	human	known	74_37	splice_site	8.22	65	6	SNP	1.000	C	C	4619267	G	C	4619267	5	2	133	1	0	0	0	0	0	0	1	0	982	985	34	5	64	5	ARRB2	17	4619267	Splice_Site	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	768502	4619267	76575943	395	34317											
ZNF594	84622	genome.wustl.edu	37	chr17	5085724	5085724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctatgatgtctcagaaggtCtgagctctgattgaaagttt	10	15	10	6	0	4	5	1	4	4	1	5	5	4	5	0	1	1	2	0	1	3	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:5085724C>T	ENST00000399604.4	-	1	1968	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N	ZNF594_ENST00000575779.1_Missense_Mutation_p.D610N			Q96JF6	ZN594_HUMAN	zinc finger protein 594	610					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTCAGAAGGTCTGAGCTCTGA	0.398																																																	0													164	167	166					17																	5085724		2012	4197	6209	SO:0001583	missense	0			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.1828G>A	17.37:g.5085724C>T	ENSP00000382513:p.Asp610Asn		Q6RFS0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D610N	ENST00000399604.4	37	c.1828	CCDS42241.1	17	.	.	.	.	.	.	.	.	.	.	c	3.544	-0.093175	0.07053	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.07444	3.19	1.26	0.0525	0.14302	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	N	0.00738	-1.235	0.09310	N	1	D	0.61080	0.989	D	0.68353	0.957	T	0.35425	-0.9789	9	0.11794	T	0.64	.	6.9991	0.24799	0.0:0.7144:0.2855:0.0	.	610	Q96JF6	ZN594_HUMAN	N	610;205	ENSP00000382513:D610N	ENSP00000373874:D205N	D	-	1	0	ZNF594	5026448	0.000000	0.05858	0.001000	0.08648	0.308000	0.27856	-3.251000	0.00540	-0.186000	0.10533	0.184000	0.17185	GAC	ZNF594	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180626		0.398	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	-	0	120	0	C	XM_290737		5085724	-1	tier1	-	no_errors	ENST00000399604	ensembl	human	known	74_37	missense	11.61	137	18	SNP	0.002	T	T	5085724	C	T	5085724	3	4	133	1	0	0	0	0	1	0	0	0	18072	913	32	3	599	3	ZNF594	17	5085724	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	466457	5085724	76109486	396	34318											
ALOX12	239	genome.wustl.edu	37	chr17	6901872	6901872	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacatgttccagaagcatCgagagaaggaactgaaagac	16	6	12	7	1	0	4	0	1	0	3	2	8	1	6	1	2	2	2	1	2	4	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:6901872C>A	ENST00000251535.6	+	3	435	c.382C>A	c.(382-384)Cga>Aga	p.R128R	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	128	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						CCAGAAGCATCGAGAGAAGGA	0.582																																																	0													68	53	58					17																	6901872		2203	4300	6503	SO:0001819	synonymous_variant	0			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.382C>A	17.37:g.6901872C>A			O95569|Q6ISF8|Q9UQM4	Silent	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.R128	ENST00000251535.6	37	c.382	CCDS11084.1	17																																																																																			ALOX12	-	superfamily_LipOase_C	ENSG00000108839		0.582	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	-	0	46	0	C			6901872	1	tier1	-	no_errors	ENST00000251535	ensembl	human	known	74_37	silent	14.29	36	6	SNP	0.996	A	A	6901872	C	A	6901872	2	1	133	1	0	0	0	0	0	0	0	1	536	876	31	2		2	ALOX12	17	6901872	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1816148	6901872	74293338	397	34319											
DLG4	1742	genome.wustl.edu	37	chr17	7096810	7096810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cccagcactcacggggaacaCaggatccaaacttgtcgggg	11	5	12	13	2	1	0	1	0	0	0	3	2	2	2	2	5	3	1	2	5	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:7096810C>A	ENST00000399506.2	-	16	1876	c.1685G>T	c.(1684-1686)tGt>tTt	p.C562F	DLG4_ENST00000399510.2_Missense_Mutation_p.C605F|DLG4_ENST00000302955.6_Missense_Mutation_p.C559F			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	562	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)	ACGGGGAACACAGGATCCAAA	0.627																																																	0													68	68	68					17																	7096810		1992	4158	6150	SO:0001583	missense	0			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.1685G>T	17.37:g.7096810C>A	ENSP00000382425:p.Cys562Phe		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.C605F	ENST00000399506.2	37	c.1814		17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487088	0.84854	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.43688	0.94;0.94;0.94	5.08	5.08	0.68730	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.72503	0.3468	M	0.93016	3.37	0.80722	D	1	D;P;D;D	0.89917	1.0;0.932;0.999;0.997	D;P;D;D	0.91635	0.994;0.9;0.999;0.997	T	0.79720	-0.1685	9	0.87932	D	0	.	16.0154	0.80434	0.0:1.0:0.0:0.0	.	602;562;559;605	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	F	562;559;605;605;502;605	ENSP00000382425:C562F;ENSP00000307471:C559F;ENSP00000382428:C605F	ENSP00000293813:C605F	C	-	2	0	DLG4	7037534	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.630000	0.83225	2.652000	0.90054	0.655000	0.94253	TGT	DLG4	-	pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000132535		0.627	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	HGNC	protein_coding	OTTHUMT00000259419.2		0	83	0	C	NM_001365		7096810	-1			no_errors	ENST00000399510	ensembl	human	known	74_37	missense	6.98	80	6	SNP	1.000	A	A	7096810	C	A	7096810	3	1	133	1	0	0	0	0	1	0	0	0	4571	478	17	3	509	3	DLG4	17	7096810	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	194938	7096810	74098400	398	34320											
TP53	7157	genome.wustl.edu	37	chr17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagctcgtggtgaggctCccctttcttgcggagattct	4	12	14	11	2	2	2	0	1	2	1	4	3	3	2	2	4	2	3	2	4	0	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:7577058C>A	ENST00000269305.4	-	8	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|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	294	Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*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)	TGGTGAGGCTCCCCTTTCTTG	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	87	Substitution - Nonsense(46)|Deletion - Frameshift(20)|Whole gene deletion(8)|Substitution - Missense(5)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex - compound substitution(1)	upper_aerodigestive_tract(17)|lung(14)|large_intestine(10)|breast(7)|urinary_tract(6)|oesophagus(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(2)|skin(2)|salivary_gland(1)|vulva(1)|soft_tissue(1)|endometrium(1)											109	95	100					17																	7577058		2203	4300	6503	SO:0001587	stop_gained	0	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.880G>T	17.37:g.7577058C>A	ENSP00000269305:p.Glu294*		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E294*	ENST00000269305.4	37	c.880	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.130179	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	4.29	0.51040	.	0.702099	0.13430	N	0.388474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.6918	13.5106	0.61511	0.0:0.8337:0.1663:0.0	.	.	.	.	X	294;294;294;294;294;283;162	.	ENSP00000269305:E294X	E	-	1	0	TP53	7517783	0.019000	0.18553	0.006000	0.13384	0.253000	0.25986	1.700000	0.37815	1.441000	0.47550	0.561000	0.74099	GAG	TP53	-	NULL	ENSG00000141510		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	64	0	C	NM_000546		7577058	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	8.00	69	6	SNP	0.015	A	A	7577058	C	A	7577058	4	1	133	1	0	0	0	0	0	1	0	0	16429	864	30	3	406	3	TP53	17	7577058	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	480248	7577058	73618152	399	34321											
TP53	7157	genome.wustl.edu	37	chr17	7579312	7579312	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs55863639		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:7579312C>A	ENST00000269305.4	-	4	564	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|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	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	0	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>T	17.37:g.7579312C>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	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.T125	ENST00000269305.4	37	c.375	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	118	0	C	NM_000546	Silent	7579312	-1	tier1	rs55863639	no_errors	ENST00000269305	ensembl	human	known	74_37	silent	5.26	90	5	SNP	1.000	A	A	7579312	C	A	7579312	5	1	133	1	0	0	0	0	0	0	1	0	16429	666	23	2	927	2	TP53	17	7579312	Splice_Site	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2254	7579312	73615898	400	34322											
ARHGEF15	22899	genome.wustl.edu	37	chr17	8215691	8215691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcgctccgcctccccagaaCctgctccccggtctccagtc	4	7	9	21	3	1	1	0	0	1	1	6	1	4	1	8	2	2	2	8	2	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:8215691C>A	ENST00000361926.3	+	2	444	c.334C>A	c.(334-336)Cct>Act	p.P112T	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P112T	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	112	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCCCCAGAACCTGCTCCCCG	0.662																																																	0													92	98	96					17																	8215691		2203	4300	6503	SO:0001583	missense	0			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.334C>A	17.37:g.8215691C>A	ENSP00000355026:p.Pro112Thr		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.P112T	ENST00000361926.3	37	c.334	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	C	4.042	0.005434	0.07866	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.71934	-0.61;-0.61	4.7	1.48	0.22813	.	0.746779	0.11812	N	0.527116	T	0.49474	0.1559	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37430	-0.9706	10	0.48119	T	0.1	-3.9086	5.5959	0.17327	0.3468:0.5599:0.0:0.0934	.	112;112	D3DTR7;O94989	.;ARHGF_HUMAN	T	112	ENSP00000355026:P112T;ENSP00000412505:P112T	ENSP00000355026:P112T	P	+	1	0	ARHGEF15	8156416	0.044000	0.20184	0.714000	0.30535	0.414000	0.31173	0.426000	0.21363	0.281000	0.22233	-0.263000	0.10527	CCT	ARHGEF15	-	NULL	ENSG00000198844		0.662	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	-	0	123	0	C	NM_173728		8215691	1	tier1	-	no_errors	ENST00000361926	ensembl	human	known	74_37	missense	11.59	122	16	SNP	0.205	A	A	8215691	C	A	8215691	3	1	133	1	0	0	0	0	1	0	0	0	898	507	18	3	336	3	ARHGEF15	17	8215691	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	636379	8215691	72979519	401	34323											
PIK3R5	23533	genome.wustl.edu	37	chr17	8791623	8791623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgggggcgtgaagcagggGccagaagccagctgggcagc	8	3	20	10	1	0	2	0	1	0	1	0	2	0	2	2	5	4	4	2	5	2	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:8791623G>A	ENST00000447110.1	-	10	1605	c.1481C>T	c.(1480-1482)gCc>gTc	p.A494V	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A494V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A494V	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	494					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						TGAAGCAGGGGCCAGAAGCCA	0.667																																					NSCLC(18;589 615 7696 20311 50332)												0													30	34	32					17																	8791623		2203	4300	6503	SO:0001583	missense	0			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.1481C>T	17.37:g.8791623G>A	ENSP00000392812:p.Ala494Val		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.A494V	ENST00000447110.1	37	c.1481	CCDS11147.1	17	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057792	0.19907	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.76968	-1.06	5.48	5.48	0.80851	.	0.450948	0.24325	N	0.039518	T	0.66247	0.2770	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.51220	-0.8733	10	0.25751	T	0.34	-24.3067	17.119	0.86697	0.0:0.0:1.0:0.0	.	494	Q8WYR1	PI3R5_HUMAN	V	494	ENSP00000392812:A494V	ENSP00000269300:A494V	A	-	2	0	PIK3R5	8732348	0.624000	0.27102	0.999000	0.59377	0.045000	0.14185	2.299000	0.43611	2.568000	0.86640	0.650000	0.86243	GCC	PIK3R5	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000141506		0.667	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIK3R5	HGNC	protein_coding	OTTHUMT00000227003.2		0	50	0	G	NM_014308		8791623	-1			no_errors	ENST00000447110	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.179	A	A	8791623	G	A	8791623	3	1	133	1	0	0	0	0	1	0	0	0	11961	1203	42	3	1201	3	PIK3R5	17	8791623	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	575932	8791623	72403587	402	34324											
MYH13	8735	genome.wustl.edu	37	chr17	10204930	10204930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcagcttgttgacctGggactcagcgatgtccgccc	5	9	12	15	2	2	1	2	1	0	0	3	3	3	2	4	2	2	2	4	2	0	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:10204930G>T	ENST00000418404.3	-	39	5921	c.5758C>A	c.(5758-5760)Cag>Aag	p.Q1920K	MYH13_ENST00000252172.4_Missense_Mutation_p.Q1920K|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1920					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						TTGTTGACCTGGGACTCAGCG	0.592																																																	0													97	104	102					17																	10204930		2203	4300	6503	SO:0001583	missense	0			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.5758C>A	17.37:g.10204930G>T	ENSP00000404570:p.Gln1920Lys		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1920K	ENST00000418404.3	37	c.5758	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876720	0.72180	.	.	ENSG00000006788	ENST00000252172	T	0.74842	-0.88	3.76	3.76	0.43208	Myosin tail (1);	.	.	.	.	D	0.88123	0.6352	H	0.94964	3.605	0.45087	D	0.998105	P	0.51933	0.949	P	0.58660	0.843	D	0.92044	0.5643	9	0.72032	D	0.01	.	16.1271	0.81402	0.0:0.0:1.0:0.0	.	1920	Q9UKX3	MYH13_HUMAN	K	1920	ENSP00000252172:Q1920K	ENSP00000252172:Q1920K	Q	-	1	0	MYH13	10145655	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	9.544000	0.98092	2.097000	0.63578	0.484000	0.47621	CAG	MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.592	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0	80	0	G	NM_003802		10204930	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	9.48	105	11	SNP	1.000	T	T	10204930	G	T	10204930	3	4	133	1	0	0	0	0	1	0	0	0	10070	1357	47	3	66	3	MYH13	17	10204930	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1413307	10204930	70990280	403	34325											
MYH13	8735	genome.wustl.edu	37	chr17	10216024	10216024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgcgcacttggagttcGccgtctccgtgttctcctct	4	13	10	14	5	3	0	0	0	3	0	6	2	3	1	3	1	1	3	3	1	0	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:10216024G>T	ENST00000418404.3	-	30	4395	c.4232C>A	c.(4231-4233)gCg>gAg	p.A1411E	MYH13_ENST00000252172.4_Missense_Mutation_p.A1411E|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1411					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						CTTGGAGTTCGCCGTCTCCGT	0.542																																																	0													47	51	50					17																	10216024		2194	4295	6489	SO:0001583	missense	0			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.4232C>A	17.37:g.10216024G>T	ENSP00000404570:p.Ala1411Glu		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1411E	ENST00000418404.3	37	c.4232	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394980	0.42512	.	.	ENSG00000006788	ENST00000252172	T	0.78924	-1.22	3.96	1.8	0.24995	Myosin tail (1);	.	.	.	.	D	0.83008	0.5161	M	0.71036	2.16	0.26213	N	0.979273	B	0.22604	0.072	P	0.48227	0.571	T	0.78393	-0.2221	9	0.72032	D	0.01	.	5.1597	0.15054	0.6676:0.0:0.3324:0.0	.	1411	Q9UKX3	MYH13_HUMAN	E	1411	ENSP00000252172:A1411E	ENSP00000252172:A1411E	A	-	2	0	MYH13	10156749	0.960000	0.32886	0.059000	0.19551	0.541000	0.35023	3.174000	0.50847	0.323000	0.23307	0.462000	0.41574	GCG	MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.542	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0	58	0	G	NM_003802		10216024	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	6.59	85	6	SNP	0.911	T	T	10216024	G	T	10216024	3	4	133	1	0	0	0	0	1	0	0	0	10070	1087	38	2	1628	2	MYH13	17	10216024	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	11094	10216024	70979186	404	34326											
MYH8	4626	genome.wustl.edu	37	chr17	10296408	10296408	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgttcatcttacatcagtGatggccttcttggctttctc	7	17	7	10	0	5	1	2	1	3	0	6	1	5	1	1	2	1	2	1	2	2	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:10296408G>A	ENST00000403437.2	-	36	5380	c.5286C>T	c.(5284-5286)atC>atT	p.I1762I	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1762					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						TTACATCAGTGATGGCCTTCT	0.388									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													316	275	289					17																	10296408		2203	4300	6503	SO:0001819	synonymous_variant	0	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.5286C>T	17.37:g.10296408G>A			Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1762	ENST00000403437.2	37	c.5286	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_tail	ENSG00000133020		0.388	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	-	0	142	0	G	NM_002472		10296408	-1	tier1	-	no_errors	ENST00000403437	ensembl	human	known	74_37	silent	6.70	181	13	SNP	1.000	A	A	10296408	G	A	10296408	2	1	133	1	0	0	0	0	0	0	0	1	10079	1280	45	3		3	MYH8	17	10296408	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	80384	10296408	70898802	405	34327											
MYH2	4620	genome.wustl.edu	37	chr17	10432019	10432019	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtaccttggctttggaGaccgtttctacattactagc	8	15	9	9	1	1	1	0	0	1	1	1	2	1	1	2	2	4	4	2	2	5	8			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:10432019G>T	ENST00000245503.5	-	27	4116	c.3732C>A	c.(3730-3732)gtC>gtA	p.V1244V	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.V1244V|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1244					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGCTTTGGAGACCGTTTCTA	0.408																																																	0													123	119	121					17																	10432019		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3732C>A	17.37:g.10432019G>T			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1244	ENST00000245503.5	37	c.3732	CCDS11156.1	17																																																																																			MYH2	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000125414		0.408	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0	135	0	G	NM_017534		10432019	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	silent	8.24	167	15	SNP	0.861	T	T	10432019	G	T	10432019	2	4	133	1	0	0	0	0	0	0	0	1	10073	929	33	3		3	MYH2	17	10432019	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	135611	10432019	70763191	406	34328											
CCDC144A	9720	genome.wustl.edu	37	chr17	16612402	16612402	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gacaaataacatacctggttGtgaggaagaagatgcatctg	15	9	11	6	0	1	3	0	1	1	2	1	5	1	4	1	2	3	2	1	2	5	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:16612402G>T	ENST00000360524.8	+	5	1107	c.1031G>T	c.(1030-1032)tGt>tTt	p.C344F	CCDC144A_ENST00000340621.5_Missense_Mutation_p.C343F|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.C344F|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000399273.1_Missense_Mutation_p.C344F|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000443444.2_Missense_Mutation_p.C344F	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	344																	ATACCTGGTTGTGAGGAAGAA	0.383																																																	0													31	30	31					17																	16612402		1799	4036	5835	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1031G>T	17.37:g.16612402G>T	ENSP00000353717:p.Cys344Phe		O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.C344F	ENST00000360524.8	37	c.1031	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	8.294	0.818375	0.16607	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	1.26	-0.977	0.10282	.	.	.	.	.	T	0.10551	0.0258	N	0.22421	0.69	0.09310	N	1	P	0.50156	0.932	B	0.40782	0.34	T	0.16958	-1.0385	8	.	.	.	.	2.5055	0.04644	0.4059:0.2768:0.3173:0.0	.	344	A2RUR9	C144A_HUMAN	F	343;344;344;344;344;344	ENSP00000344740:C343F;ENSP00000382215:C344F;ENSP00000439262:C344F;ENSP00000440655:C344F;ENSP00000353717:C344F;ENSP00000353685:C344F	.	C	+	2	0	CCDC144A	16553127	0.001000	0.12720	0.345000	0.25642	0.104000	0.19210	-0.838000	0.04372	-0.135000	0.11495	0.175000	0.17021	TGT	CCDC144A	-	NULL	ENSG00000170160		0.383	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	-	0	242	0	G			16612402	1	tier1	-	no_errors	ENST00000360524	ensembl	human	known	74_37	missense	6.90	297	22	SNP	0.001	T	T	16612402	G	T	16612402	3	4	133	1	0	0	0	0	1	0	0	0	2784	1377	48	3	1049	3	CCDC144A	17	16612402	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	6180383	16612402	64582808	407	34329											
SLC13A2	9058	genome.wustl.edu	37	chr17	26820661	26820661	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctactgcgtcatccagacCgagcacaggctgctgggccc	7	6	12	16	2	1	1	1	0	0	1	2	2	2	1	4	2	4	3	4	2	1	1	rs149127873	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:26820661C>A	ENST00000314669.5	+	7	1371	c.951C>A	c.(949-951)acC>acA	p.T317T	SLC13A2_ENST00000444914.3_Silent_p.T366T|SLC13A2_ENST00000545060.1_Silent_p.T274T|SLC13A2_ENST00000537681.1_Silent_p.T246T	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	317					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)	TCATCCAGACCGAGCACAGGC	0.592																																																	0													59	52	55					17																	26820661		2203	4300	6503	SO:0001819	synonymous_variant	0			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.951C>A	17.37:g.26820661C>A			B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.T366	ENST00000314669.5	37	c.1098	CCDS11231.1	17																																																																																			SLC13A2	-	pfam_Na/sul_symport	ENSG00000007216		0.592	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A2	HGNC	protein_coding	OTTHUMT00000255722.1	-	0	45	0	C	NM_003984		26820661	1	tier1	-	no_errors	ENST00000444914	ensembl	human	known	74_37	silent	16.09	73	14	SNP	0.000	A	A	26820661	C	A	26820661	2	1	133	1	0	0	0	0	0	0	0	1	14437	639	23	2		2	SLC13A2	17	26820661	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	10208259	26820661	54374549	408	34330											
SSH2	85464	genome.wustl.edu	37	chr17	28003885	28003885	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgtgaactctgttatcCgtcgatacactgaacccact	12	12	6	11	2	1	2	0	2	1	0	3	3	2	2	2	0	3	1	2	0	6	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:28003885C>T	ENST00000269033.3	-	7	637	c.486G>A	c.(484-486)acG>acA	p.T162T	SSH2_ENST00000540801.1_Silent_p.T189T|SSH2_ENST00000324677.7_5'UTR|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	162					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						CTCTGTTATCCGTCGATACAC	0.363																																																	0													112	107	109					17																	28003885		2203	4300	6503	SO:0001819	synonymous_variant	0			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.486G>A	17.37:g.28003885C>T			Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.T162	ENST00000269033.3	37	c.486	CCDS11253.1	17																																																																																			SSH2	-	NULL	ENSG00000141298		0.363	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	-	0	26	0	C	NM_033389		28003885	-1	tier1	-	no_errors	ENST00000269033	ensembl	human	known	74_37	silent	13.43	58	9	SNP	0.918	T	T	28003885	C	T	28003885	2	4	133	1	0	0	0	0	0	0	0	1	15232	639	23	1		1	SSH2	17	28003885	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1183224	28003885	53191325	409	34331											
SLFN11	91607	genome.wustl.edu	37	chr17	33690498	33690498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaaagggccactgctcCaagatttaacaaaaatgtaa	17	7	9	8	0	0	1	0	0	0	1	1	2	1	2	2	2	2	2	2	2	6	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:33690498C>A	ENST00000394566.1	-	4	601	c.329G>T	c.(328-330)tGg>tTg	p.W110L	SLFN11_ENST00000308377.4_Missense_Mutation_p.W110L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	110					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCACTGCTCCAAGATTTAAC	0.453																																																	0													65	63	64					17																	33690498		2203	4300	6503	SO:0001583	missense	0			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.329G>T	17.37:g.33690498C>A	ENSP00000378067:p.Trp110Leu		E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.W110L	ENST00000394566.1	37	c.329	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030687	0.54790	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.02763	4.17;4.17	4.18	4.18	0.49190	.	0.000000	0.36374	N	0.002635	T	0.15652	0.0377	M	0.85197	2.74	0.32351	N	0.558492	D	0.89917	1.0	D	0.87578	0.998	T	0.04885	-1.0920	10	0.66056	D	0.02	.	11.8833	0.52587	0.0:1.0:0.0:0.0	.	110	Q7Z7L1	SLN11_HUMAN	L	110	ENSP00000312402:W110L;ENSP00000378067:W110L	ENSP00000312402:W110L	W	-	2	0	SLFN11	30714611	1.000000	0.71417	0.863000	0.33907	0.392000	0.30506	4.934000	0.63491	2.170000	0.68504	0.655000	0.94253	TGG	SLFN11	-	NULL	ENSG00000172716		0.453	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	-	0	50	0	C	NM_152270		33690498	-1	tier1	-	no_errors	ENST00000308377	ensembl	human	known	74_37	missense	14.29	48	8	SNP	0.995	A	A	33690498	C	A	33690498	3	1	133	1	0	0	0	0	1	0	0	0	14778	595	21	3	2392	3	SLFN11	17	33690498	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	5686613	33690498	47504712	410	34332											
GAS2L2	246176	genome.wustl.edu	37	chr17	34071950	34071950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggccctctggaggttgggGgctgctctccaatggagcgg	5	8	17	11	1	2	0	0	0	2	0	3	2	2	2	2	7	2	3	2	7	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:34071950G>T	ENST00000254466.6	-	6	2593	c.2566C>A	c.(2566-2568)Ccc>Acc	p.P856T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P840T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	856					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAGGTTGGGGGCTGCTCTCC	0.602																																																	0													85	66	73					17																	34071950		2203	4300	6503	SO:0001583	missense	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2566C>A	17.37:g.34071950G>T	ENSP00000254466:p.Pro856Thr		Q8NHY4	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.P856T	ENST00000254466.6	37	c.2566	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	9.577	1.122521	0.20877	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	T	0.17528	2.27	4.92	0.0716	0.14383	.	1.057410	0.07377	N	0.886803	T	0.09468	0.0233	N	0.24115	0.695	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.40646	-0.9552	10	0.18276	T	0.48	0.1639	3.3423	0.07123	0.2146:0.0:0.3927:0.3926	.	856	Q8NHY3	GA2L2_HUMAN	T	856;270	ENSP00000254466:P856T	ENSP00000254466:P856T	P	-	1	0	GAS2L2	31096063	0.001000	0.12720	0.006000	0.13384	0.058000	0.15608	0.122000	0.15687	0.212000	0.20703	0.462000	0.41574	CCC	GAS2L2	-	NULL	ENSG00000132139		0.602	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	-	0	73	0	G	NM_139285		34071950	-1	tier1	-	no_errors	ENST00000254466	ensembl	human	known	74_37	missense	6.86	95	7	SNP	0.002	T	T	34071950	G	T	34071950	3	4	133	1	0	0	0	0	1	0	0	0	6272	1232	43	3	80	3	GAS2L2	17	34071950	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	381452	34071950	47123260	411	34333											
CCL18	6362	genome.wustl.edu	37	chr17	34398331	34398331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctaaccaagagaggccGgcagatctgtgctgacccca	10	6	10	15	1	1	3	0	1	1	2	2	4	2	3	6	2	2	2	6	2	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:34398331G>T	ENST00000004921.3	+	3	263	c.200G>T	c.(199-201)cGg>cTg	p.R67L	AC069363.1_ENST00000588864.1_RNA|AC069363.1_ENST00000590992.1_RNA	NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	67					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to biotic stimulus (GO:0009607)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGAGAGGCCGGCAGATCTGT	0.557																																																	0													80	80	80					17																	34398331		2203	4300	6503	SO:0001583	missense	0			Y13710	CCDS11306.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000006074	ENSG00000275385		"Chemokine ligands"	10616	protein-coding gene	gene with protein product		603757	"small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated"	SCYA18		9233607, 10049593	Standard	NM_002988		Approved	DC-CK1, PARC, AMAC-1, DCCK1, MIP-4, CKb7	uc002hku.3	P55774	OTTHUMG00000188410	ENST00000004921.3:c.200G>T	17.37:g.34398331G>T	ENSP00000004921:p.Arg67Leu		B5BUM2|Q53X71	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R67L	ENST00000004921.3	37	c.200	CCDS11306.1	17	.	.	.	.	.	.	.	.	.	.	.	11.19	1.564931	0.27915	.	.	ENSG00000006074	ENST00000004921	T	0.06768	3.26	4.44	1.16	0.20824	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.204155	0.31747	N	0.007132	T	0.19366	0.0465	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.72625	0.978	T	0.03514	-1.1029	9	0.62326	D	0.03	.	4.8691	0.13624	0.1968:0.1737:0.6295:0.0	.	67	P55774	CCL18_HUMAN	L	67	ENSP00000004921:R67L	ENSP00000004921:R67L	R	+	2	0	CCL18	31422444	0.003000	0.15002	0.005000	0.12908	0.018000	0.09664	0.697000	0.25556	0.180000	0.19960	0.591000	0.81541	CGG	CCL18	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000006074		0.557	CCL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL18	HGNC	protein_coding	OTTHUMT00000256583.1	-	0	276	0	G	NM_002988		34398331	1	tier1	-	no_errors	ENST00000004921	ensembl	human	known	74_37	missense	10.14	256	29	SNP	0.029	T	T	34398331	G	T	34398331	3	4	133	1	0	0	0	0	1	0	0	0	2896	1116	39	2	210	2	CCL18	17	34398331	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	326381	34398331	46796879	412	34334											
KRT33B	3884	genome.wustl.edu	37	chr17	39521128	39521128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatactcctggttctgccGctccaggtcactgcggatct	5	12	10	14	2	3	1	1	1	2	0	5	2	5	2	3	3	3	2	3	3	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:39521128G>C	ENST00000251646.3	-	6	1049	c.1000C>G	c.(1000-1002)Cgg>Ggg	p.R334G		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	334	Coil 2.|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)				TGGTTCTGCCGCTCCAGGTCA	0.637																																																	0													53	61	58					17																	39521128		2189	4296	6485	SO:0001583	missense	0			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.1000C>G	17.37:g.39521128G>C	ENSP00000251646:p.Arg334Gly		O76010	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.R334G	ENST00000251646.3	37	c.1000	CCDS11389.1	17	.	.	.	.	.	.	.	.	.	.	g	19.31	3.802354	0.70682	.	.	ENSG00000131738	ENST00000251646	D	0.90133	-2.62	4.85	1.43	0.22495	Filament (1);	0.000000	0.64402	D	0.000017	D	0.94489	0.8226	M	0.90595	3.13	0.31060	N	0.71428	P	0.46987	0.888	P	0.60117	0.869	D	0.91978	0.5592	10	0.44086	T	0.13	.	10.4042	0.44248	0.0:0.117:0.5244:0.3586	.	334	Q14525	KT33B_HUMAN	G	334	ENSP00000251646:R334G	ENSP00000251646:R334G	R	-	1	2	KRT33B	36774654	0.418000	0.25440	1.000000	0.80357	0.997000	0.91878	0.000000	0.12993	0.700000	0.31782	0.650000	0.86243	CGG	KRT33B	-	pfam_IF	ENSG00000131738		0.637	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33B	HGNC	protein_coding	OTTHUMT00000257292.1	-	0	104	0	G	NM_002279		39521128	-1	tier1	-	no_errors	ENST00000251646	ensembl	human	known	74_37	missense	19.86	117	29	SNP	1.000	C	C	39521128	G	C	39521128	3	2	133	1	0	0	0	0	1	0	0	0	8497	1086	38	5	222	5	KRT33B	17	39521128	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5122797	39521128	41674082	413	34335											
BRCA1	672	genome.wustl.edu	37	chr17	41247865	41247865	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaaactttgccattacccTtttttgcagaatccaaactg	11	13	6	11	0	0	1	0	0	0	1	1	1	1	1	3	1	5	2	3	1	4	5	rs80357745|rs397509305|rs397509306		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:41247865T>G	ENST00000357654.3	-	9	786	c.668A>C	c.(667-669)aAg>aCg	p.K223T	BRCA1_ENST00000468300.1_Missense_Mutation_p.K223T|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000352993.3_Missense_Mutation_p.K223T|BRCA1_ENST00000471181.2_Missense_Mutation_p.K223T|BRCA1_ENST00000493795.1_Missense_Mutation_p.K176T|BRCA1_ENST00000491747.2_Missense_Mutation_p.K223T|BRCA1_ENST00000346315.3_Missense_Mutation_p.K223T|BRCA1_ENST00000354071.3_Missense_Mutation_p.K223T	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	223					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)		GCCATTACCCTTTTTTGCAGA	0.398			"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			GRCh37	CD057384	BRCA1	D	rs80357745						127	104	112					17																	41247865		2203	4300	6503	SO:0001583	missense	0	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.668A>C	17.37:g.41247865T>G	ENSP00000350283:p.Lys223Thr		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.K223T	ENST00000357654.3	37	c.668	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	T	13.26	2.182885	0.38511	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000493919;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97209	-2.29;-2.41;-2.27;-2.4;-2.37;-2.85;-2.3;-2.42;-2.43;-2.22;-2.46;-2.86;-4.29;-2.54;-2.2	4.57	4.57	0.56435	.	0.593557	0.15208	N	0.274643	D	0.97695	0.9244	M	0.62723	1.935	0.80722	D	1	D;D;P;P;D;D;P;P;P	0.67145	0.988;0.993;0.94;0.816;0.996;0.981;0.816;0.787;0.884	P;D;P;B;D;D;B;B;P	0.75484	0.728;0.968;0.561;0.382;0.986;0.954;0.311;0.413;0.509	D	0.97244	0.9893	10	0.72032	D	0.01	.	10.5057	0.44832	0.0:0.0:0.0:1.0	.	176;222;223;223;223;223;223;223;223	B4DES0;E7ETR2;E7EMP0;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;.;BRCA1_HUMAN;.	T	223;223;223;223;223;223;176;223;176;222;222;176;223;197;223;222	ENSP00000350283:K223T;ENSP00000326002:K223T;ENSP00000312236:K223T;ENSP00000246907:K223T;ENSP00000417148:K223T;ENSP00000377294:K176T;ENSP00000418960:K223T;ENSP00000418775:K176T;ENSP00000420705:K222T;ENSP00000420412:K222T;ENSP00000418819:K176T;ENSP00000419274:K223T;ENSP00000419988:K197T;ENSP00000419103:K223T;ENSP00000417554:K222T	ENSP00000246907:K223T	K	-	2	0	BRCA1	38501391	0.034000	0.19679	0.790000	0.31976	0.977000	0.68977	0.991000	0.29654	2.049000	0.60858	0.379000	0.24179	AAG	BRCA1	-	pirsf_BRCA1	ENSG00000012048		0.398	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	-	0	64	0	T	NM_007294		41247865	-1	tier1	-	no_errors	ENST00000471181	ensembl	human	known	74_37	missense	8.33	99	9	SNP	0.941	G	G	41247865	T	G	41247865	3	3	133	1	0	0	0	0	1	0	0	0	1502	1609	56	4	5053	4	BRCA1	17	41247865	Missense_Mutation	SNP	T	TCGA-LN-A9FP-01A-31D-A387-09	1726737	41247865	39947345	414	34336											
DHX8	1659	genome.wustl.edu	37	chr17	41561514	41561514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgtcaaaggtttgcactGagctggacaatcacttgggg	9	11	14	7	0	2	1	2	1	0	0	2	2	2	2	0	5	2	3	0	5	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:41561514G>A	ENST00000262415.3	+	1	181	c.109G>A	c.(109-111)Gag>Aag	p.E37K	DHX8_ENST00000540306.1_Missense_Mutation_p.E37K	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	37					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)		GGTTTGCACTGAGCTGGACAA	0.582											OREG0024434	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													118	109	112					17																	41561514		2203	4300	6503	SO:0001583	missense	0			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.109G>A	17.37:g.41561514G>A	ENSP00000262415:p.Glu37Lys	902		Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E37K	ENST00000262415.3	37	c.109	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.265143	0.95399	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.04970	3.52;3.58	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	M	0.84156	2.68	0.80722	D	1	D;P	0.67145	0.996;0.956	D;D	0.76071	0.987;0.931	T	0.01010	-1.1482	10	0.66056	D	0.02	.	19.1891	0.93656	0.0:0.0:1.0:0.0	.	37;37	F5H658;Q14562	.;DHX8_HUMAN	K	37	ENSP00000437886:E37K;ENSP00000262415:E37K	ENSP00000262415:E37K	E	+	1	0	DHX8	38917040	1.000000	0.71417	0.980000	0.43619	0.951000	0.60555	9.100000	0.94213	2.783000	0.95769	0.655000	0.94253	GAG	DHX8	-	NULL	ENSG00000067596		0.582	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	-	0	112	0	G			41561514	1	tier1	-	no_errors	ENST00000262415	ensembl	human	known	74_37	missense	6.54	100	7	SNP	1.000	A	A	41561514	G	A	41561514	3	1	133	1	0	0	0	0	1	0	0	0	4529	1291	45	3	111	3	DHX8	17	41561514	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	313649	41561514	39633696	415	34337											
DHX8	1659	genome.wustl.edu	37	chr17	41571102	41571102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccaaatagacggcgaaatCttgtcggggagaccaatgag	14	6	12	9	3	1	3	0	1	1	2	2	5	1	3	2	3	0	0	2	3	4	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:41571102C>T	ENST00000262415.3	+	8	1132	c.1060C>T	c.(1060-1062)Ctt>Ttt	p.L354F	DHX8_ENST00000540306.1_Missense_Mutation_p.L354F	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	354					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)		ACGGCGAAATCTTGTCGGGGA	0.493																																					NSCLC(56;1548 1661 49258 49987)												0													202	204	203					17																	41571102		2203	4300	6503	SO:0001583	missense	0			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.1060C>T	17.37:g.41571102C>T	ENSP00000262415:p.Leu354Phe			Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L354F	ENST00000262415.3	37	c.1060	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135228	0.56828	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03330	3.97;3.97	5.89	4.87	0.63330	Nucleic acid-binding, OB-fold-like (1);	0.062767	0.64402	D	0.000009	T	0.03477	0.0100	N	0.22421	0.69	0.40718	D	0.982639	P;P	0.42785	0.79;0.566	B;B	0.40565	0.333;0.321	T	0.49934	-0.8886	10	0.59425	D	0.04	.	10.2174	0.43177	0.1373:0.7904:0.0:0.0724	.	354;354	F5H658;Q14562	.;DHX8_HUMAN	F	354	ENSP00000437886:L354F;ENSP00000262415:L354F	ENSP00000262415:L354F	L	+	1	0	DHX8	38926628	0.987000	0.35691	0.999000	0.59377	0.996000	0.88848	1.252000	0.32874	2.793000	0.96121	0.561000	0.74099	CTT	DHX8	-	superfamily_NA-bd_OB-fold	ENSG00000067596		0.493	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	-	0	124	0	C			41571102	1	tier1	-	no_errors	ENST00000262415	ensembl	human	known	74_37	missense	20.45	105	27	SNP	0.759	T	T	41571102	C	T	41571102	3	4	133	1	0	0	0	0	1	0	0	0	4529	913	32	3	1090	3	DHX8	17	41571102	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	9588	41571102	39624108	416	34338											
ITGA2B	3674	genome.wustl.edu	37	chr17	42461461	42461461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccccacctgctctcCgcgcagccgatgcagcctct	4	7	9	21	3	2	0	0	0	2	0	3	1	2	0	7	1	4	3	7	1	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:42461461C>T	ENST00000262407.5	-	10	968	c.937G>A	c.(937-939)Gga>Aga	p.G313R	ITGA2B_ENST00000377068.3_5'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.G313R	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	313			G -> A (in dbSNP:rs1126554). {ECO:0000269|PubMed:2345548, ECO:0000269|PubMed:2439501}.		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)	ACCTGCTCTCCGCGCAGCCGA	0.572																																																	0													32	31	31					17																	42461461		2203	4300	6503	SO:0001583	missense	0				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.937G>A	17.37:g.42461461C>T	ENSP00000262407:p.Gly313Arg		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G313R	ENST00000262407.5	37	c.937	CCDS32665.1	17	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449417	0.63178	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.74842	-0.88;-0.88	5.13	5.13	0.70059	.	1.473130	0.05124	N	0.491297	D	0.90707	0.7084	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.83310	-0.0023	10	0.87932	D	0	.	14.0692	0.64851	0.0:1.0:0.0:0.0	.	313	P08514	ITA2B_HUMAN	R	313	ENSP00000262407:G313R;ENSP00000340536:G313R	ENSP00000262407:G313R	G	-	1	0	ITGA2B	39816987	0.876000	0.30132	0.937000	0.37676	0.170000	0.22686	2.930000	0.48924	2.375000	0.81037	0.561000	0.74099	GGA	ITGA2B	-	prints_Integrin_alpha	ENSG00000005961		0.572	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	HGNC	protein_coding	OTTHUMT00000439823.1	-	0	63	0	C			42461461	-1	tier1	-	no_errors	ENST00000262407	ensembl	human	known	74_37	missense	10.39	68	8	SNP	0.992	T	T	42461461	C	T	42461461	3	4	133	1	0	0	0	0	1	0	0	0	7903	661	23	1	2266	1	ITGA2B	17	42461461	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	890359	42461461	38733749	417	34339											
KIAA1267	284058	genome.wustl.edu	37	chr17	44144914	44144914	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtagaagagctaaaacttaCgtgttaataactccattgac	16	11	7	7	1	0	3	0	1	0	2	1	3	1	3	1	0	4	3	1	0	7	6	rs281865470		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:44144914C>A	ENST00000262419.6	-	5	2123		c.e5+1		KANSL1_ENST00000575318.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site|KANSL1_ENST00000393476.3_Splice_Site|KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000574590.1_Splice_Site	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1						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)		p.?(1)									CTAAAACTTACGTGTTAATAA	0.413																																																	1	Unknown(1)	endometrium(1)											116	103	107					17																	44144914		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1652+1G>T	17.37:g.44144914C>A			A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Splice_Site	SNP	-	e4+1	ENST00000262419.6	37	c.1652+1	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521123	0.64747	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5344	0.75990	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1267	41500736	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	5.286000	0.65639	2.432000	0.82394	0.655000	0.94253	.	KANSL1	-	-	ENSG00000120071		0.413	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	-	0	49	0	C	NM_015443	Intron	44144914	-1	tier1	-	no_errors	ENST00000262419	ensembl	human	known	74_37	splice_site	16.09	73	14	SNP	1.000	A	A	44144914	C	A	44144914	5	1	133	1	0	0	0	0	0	0	1	0	8246	550	19	2	1708	2	KIAA1267	17	44144914	Splice_Site	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1683453	44144914	37050296	418	34340											
PHB	5245	genome.wustl.edu	37	chr17	47486521	47486521	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagcatcaaagcgagcCtggtttcaaagggaggagca	12	7	12	10	1	3	0	2	0	1	0	4	3	3	2	2	3	4	3	2	3	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:47486521C>A	ENST00000300408.3	-	5	466		c.e5-1		PHB_ENST00000511832.1_Splice_Site|PHB_ENST00000508009.1_Splice_Site|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin						cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CAAAGCGAGCCTGGTTTCAAA	0.557																																																	0													27	26	26					17																	47486521		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.394-1G>T	17.37:g.47486521C>A			B4DY47|Q4VBQ0	Splice_Site	SNP	-	e4-1	ENST00000300408.3	37	c.394-1	CCDS11548.1	17	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344611	0.82022	.	.	ENSG00000167085	ENST00000300408;ENST00000511832;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3101	0.90195	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHB	44841520	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.431000	0.80335	2.428000	0.82296	0.462000	0.41574	.	PHB	-	-	ENSG00000167085		0.557	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHB	HGNC	protein_coding	OTTHUMT00000258826.1	-	0	54	0	C	NM_002634	Intron	47486521	-1	tier1	-	no_errors	ENST00000300408	ensembl	human	known	74_37	splice_site	6.32	89	6	SNP	1.000	A	A	47486521	C	A	47486521	5	1	133	1	0	0	0	0	0	0	1	0	11853	695	24	3	437	3	PHB	17	47486521	Splice_Site	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	3341607	47486521	33708689	419	34341											
ITGA3	3675	genome.wustl.edu	37	chr17	48151811	48151811	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctctgttgtctctgcaGggcccggcccgtcatcaaca	5	10	11	15	2	4	0	2	0	2	0	5	0	4	0	2	3	2	3	2	3	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:48151811G>T	ENST00000320031.8	+	10	1712		c.e10-1		ITGA3_ENST00000544892.1_Splice_Site|ITGA3_ENST00000007722.7_Splice_Site	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)						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						TGTCTCTGCAGGGCCCGGCCC	0.602																																																	0													72	62	65					17																	48151811		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1383-1G>T	17.37:g.48151811G>T			A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Splice_Site	SNP	-	e10-1	ENST00000320031.8	37	c.1383-1	CCDS11558.1	17	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416385	0.62511	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	.	.	.	5.6	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5377	0.56150	0.0:0.0:0.8335:0.1665	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA3	45506810	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.093000	0.57714	2.637000	0.89404	0.563000	0.77884	.	ITGA3	-	-	ENSG00000005884		0.602	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	HGNC	protein_coding	OTTHUMT00000366298.1	-	0	32	0	G	NM_005501	Intron	48151811	1	tier1	-	no_errors	ENST00000320031	ensembl	human	known	74_37	splice_site	24.14	22	7	SNP	1.000	T	T	48151811	G	T	48151811	5	4	133	1	0	0	0	0	0	0	1	0	7904	1014	35	3	1420	3	ITGA3	17	48151811	Splice_Site	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	665290	48151811	33043399	420	34342											
MYCBPAP	84073	genome.wustl.edu	37	chr17	48599356	48599356	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacattggccagttcctctGatgtctccatgcctattctc	6	14	7	14	0	3	1	0	1	3	0	6	1	4	1	4	1	1	2	4	1	1	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:48599356G>C	ENST00000323776.5	+	10	1462	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.D397H	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAGTTCCTCTGATGTCTCCAT	0.512																																																	0													152	132	139					17																	48599356		2203	4300	6503	SO:0001583	missense	0			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1300G>C	17.37:g.48599356G>C	ENSP00000323184:p.Asp434His			Missense_Mutation	SNP	NULL	p.D434H	ENST00000323776.5	37	c.1300	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629228	0.46944	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.49432	0.78;0.78	5.38	4.42	0.53409	.	0.405033	0.25166	N	0.032625	T	0.68293	0.2985	M	0.80847	2.515	0.25312	N	0.989199	D;D	0.89917	0.999;1.0	D;D	0.75484	0.975;0.986	T	0.62558	-0.6829	10	0.46703	T	0.11	-9.287	13.0574	0.58988	0.0789:0.0:0.9211:0.0	.	397;434	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	H	434;397	ENSP00000323184:D434H;ENSP00000397209:D397H	ENSP00000323184:D434H	D	+	1	0	MYCBPAP	45954355	0.446000	0.25665	0.015000	0.15790	0.004000	0.04260	2.098000	0.41757	1.270000	0.44297	-0.145000	0.13849	GAT	MYCBPAP	-	NULL	ENSG00000136449		0.512	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	-	0	85	0	G	NM_032133		48599356	1	tier1	-	no_errors	ENST00000323776	ensembl	human	known	74_37	missense	12.00	88	12	SNP	0.365	C	C	48599356	G	C	48599356	3	2	133	1	0	0	0	0	1	0	0	0	10057	1290	45	5	1338	5	MYCBPAP	17	48599356	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	447545	48599356	32595854	421	34343											
ACE	1636	genome.wustl.edu	37	chr17	61557763	61557763	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccttcgaggacgatctgGaacacctctaccaacagcta	12	7	7	15	2	2	0	0	0	2	0	3	4	2	2	4	2	4	1	4	2	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:61557763G>T	ENST00000290866.4	+	5	745	c.721G>T	c.(721-723)Gaa>Taa	p.E241*	ACE_ENST00000428043.1_Nonsense_Mutation_p.E241*|ACE_ENST00000538928.1_Nonsense_Mutation_p.E241*|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	241	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)	GGACGATCTGGAACACCTCTA	0.612																																																	0													168	139	149					17																	61557763		2203	4300	6503	SO:0001587	stop_gained	0			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.721G>T	17.37:g.61557763G>T	ENSP00000290866:p.Glu241*		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Nonsense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.E241*	ENST00000290866.4	37	c.721	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434708	0.83885	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	.	.	.	4.03	4.03	0.46877	.	0.115428	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-28.1821	16.3741	0.83379	0.0:0.0:1.0:0.0	.	.	.	.	X	241	.	ENSP00000290866:E241X	E	+	1	0	ACE	58911495	1.000000	0.71417	0.993000	0.49108	0.771000	0.43674	9.646000	0.98474	2.079000	0.62486	0.561000	0.74099	GAA	ACE	-	pfam_Peptidase_M2	ENSG00000159640		0.612	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	-	0	87	0	G			61557763	1	tier1	-	no_errors	ENST00000290866	ensembl	human	known	74_37	nonsense	14.69	122	21	SNP	1.000	T	T	61557763	G	T	61557763	4	4	133	1	0	0	0	0	0	1	0	0	136	1175	41	3	739	3	ACE	17	61557763	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	12958407	61557763	19637447	422	34344											
ERN1	2081	genome.wustl.edu	37	chr17	62133221	62133223	+	In_Frame_Del	DEL	GCT	GCT	-																															tccaggtgggtggaagggcaGctgctgctgctgctgctgca																										TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:62133221_62133223delGCT	ENST00000433197.3	-	13	1579_1581	c.1484_1486delAGC	c.(1483-1488)cagctg>ctg	p.Q495del		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGGAAGGGCAgctgctgctgctg	0.631																																																	0										53,58,3253		10,0,33,12,34,1593						4.2	1			6	0,118,6892		0,0,0,19,80,3406	no	codingComplex	ERN1	NM_001433.3		10,0,33,31,114,4999	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6833,3.2996,2.2074				53,176,10145				SO:0001651	inframe_deletion	0			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1484_1486delAGC	17.37:g.62133230_62133232delGCT	ENSP00000401445:p.Gln495del			In_Frame_Del	DEL	pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.Q495in_frame_del	ENST00000433197.3	37	c.1486_1484	CCDS45762.1	17																																																																																			ERN1	-	NULL	ENSG00000178607		0.631	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2		0	39	0	GCT	NM_001433		62133223	-1	tier1		no_errors	ENST00000433197	ensembl	human	known	74_37	in_frame_del	9.30	39	4	DEL	0.999:0.998:0.998	-	-	62133223	GCT	-	62133221	7	5	133	1	0	1	0	1	0	0	0	0	5253	962	34	0	1487	0	ERN1	17	62133221	In_Frame_Del	DEL	GCT	TCGA-LN-A9FP-01A-31D-A387-09	575458	62133221	19061989	423	34345											
PITPNC1	26207	genome.wustl.edu	37	chr17	65688960	65688960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagccaccctgaatttacccGgcatgcactcttcagataag	12	9	7	13	1	2	2	1	1	1	1	2	2	2	2	3	1	3	2	3	1	4	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:65688960G>T	ENST00000581322.1	+	9	955	c.955G>T	c.(955-957)Ggc>Tgc	p.G319C	PITPNC1_ENST00000335257.6_Missense_Mutation_p.G319C|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000299954.9_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	319					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GAATTTACCCGGCATGCACTC	0.423																																																	0													84	84	84					17																	65688960		1805	4070	5875	SO:0001583	missense	0			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.955G>T	17.37:g.65688960G>T	ENSP00000464006:p.Gly319Cys		A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.G319C	ENST00000581322.1	37	c.955	CCDS58588.1	17	.	.	.	.	.	.	.	.	.	.	G	17.10	3.301932	0.60195	.	.	ENSG00000154217	ENST00000335257	T	0.47177	0.85	5.87	3.82	0.43975	.	0.207171	0.40818	N	0.001015	T	0.30572	0.0769	N	0.24115	0.695	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.18429	-1.0337	10	0.87932	D	0	-8.074	5.8475	0.18673	0.128:0.0:0.5639:0.3081	.	319	Q9UKF7	PITC1_HUMAN	C	319	ENSP00000335618:G319C	ENSP00000335618:G319C	G	+	1	0	PITPNC1	63119422	1.000000	0.71417	0.964000	0.40570	0.875000	0.50365	3.442000	0.52900	1.561000	0.49584	0.655000	0.94253	GGC	PITPNC1	-	NULL	ENSG00000154217		0.423	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNC1	HGNC	protein_coding	OTTHUMT00000447194.1	-	0	47	0	G	NM_012417		65688960	1	tier1	-	no_errors	ENST00000335257	ensembl	human	known	74_37	missense	16.33	41	8	SNP	1.000	T	T	65688960	G	T	65688960	3	4	133	1	0	0	0	0	1	0	0	0	11988	1116	39	2	1112	2	PITPNC1	17	65688960	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3555739	65688960	15506250	424	34346											
KPNA2	3838	genome.wustl.edu	37	chr17	66040117	66040117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgtcaaacatcacagccgGccgccaggaccagatacagc	14	4	9	14	2	2	1	2	0	0	1	2	2	2	2	4	2	4	0	4	2	3	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:66040117G>T	ENST00000537025.2	+	8	1714	c.1094G>T	c.(1093-1095)gGc>gTc	p.G365V	KPNA2_ENST00000330459.3_Missense_Mutation_p.G365V			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	365	NLS binding site (minor). {ECO:0000250}.		G -> S (in dbSNP:rs1059558).		cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCACAGCCGGCCGCCAGGAC	0.473																																																	0													205	212	210					17																	66040117		2203	4296	6499	SO:0001583	missense	0			U09559	CCDS32713.1	17q24.2	2013-02-14						"Importins", "Armadillo repeat containing"	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1094G>T	17.37:g.66040117G>T	ENSP00000438483:p.Gly365Val		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.G365V	ENST00000537025.2	37	c.1094	CCDS32713.1	17	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459309	0.84317	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.31769	1.48;1.48	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.68165	0.2971	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77205	-0.2673	10	0.87932	D	0	.	19.4797	0.95005	0.0:0.0:1.0:0.0	.	365	P52292	IMA2_HUMAN	V	365	ENSP00000332455:G365V;ENSP00000438483:G365V	ENSP00000332455:G365V	G	+	2	0	KPNA2	63470579	1.000000	0.71417	0.986000	0.45419	0.601000	0.36947	9.646000	0.98474	2.591000	0.87537	0.552000	0.68991	GGC	KPNA2	-	superfamily_ARM-type_fold,pfscan_Armadillo	ENSG00000182481		0.473	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KPNA2	HGNC	protein_coding	OTTHUMT00000448111.1	-	0	112	0	G	NM_002266		66040117	1	tier1	-	no_errors	ENST00000330459	ensembl	human	known	74_37	missense	14.84	131	23	SNP	1.000	T	T	66040117	G	T	66040117	3	4	133	1	0	0	0	0	1	0	0	0	8457	1203	42	3	1120	3	KPNA2	17	66040117	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	351157	66040117	15155093	425	34347											
SDK2	54549	genome.wustl.edu	37	chr17	71437045	71437045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgggtgcgatggggtCtgcaggcccccctacatctg	5	9	16	11	1	2	0	0	0	2	0	2	2	2	0	3	5	3	1	3	5	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:71437045C>A	ENST00000392650.3	-	6	631	c.631G>T	c.(631-633)Gac>Tac	p.D211Y	SDK2_ENST00000388726.3_Missense_Mutation_p.D211Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	211					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						GCGATGGGGTCTGCAGGCCCC	0.587																																																	0													76	85	82					17																	71437045		692	1591	2283	SO:0001583	missense	0			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.631G>T	17.37:g.71437045C>A	ENSP00000376421:p.Asp211Tyr		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D211Y	ENST00000392650.3	37	c.631	CCDS45769.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.434807|4.434807	0.83885|0.83885	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000392650;ENST00000388726;ENST00000316893|ENST00000416616	T;T|.	0.60424|.	0.19;0.22|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.072867|.	0.52532|.	U|.	0.000072|.	T|T	0.71567|0.71567	0.3355|0.3355	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	P|.	0.50819|.	0.939|.	B|.	0.42738|.	0.396|.	T|T	0.71038|0.71038	-0.4708|-0.4708	10|5	0.72032|.	D|.	0.01|.	.|.	17.6666|17.6666	0.88205|0.88205	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	211|.	Q58EX2|.	SDK2_HUMAN|.	Y|I	211|115	ENSP00000376421:D211Y;ENSP00000373378:D211Y|.	ENSP00000324967:D211Y|.	D|R	-|-	1|2	0|0	SDK2|SDK2	68948640|68948640	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.986000|0.986000	0.74619|0.74619	7.255000|7.255000	0.78338|0.78338	2.170000|2.170000	0.68504|0.68504	0.556000|0.556000	0.70494|0.70494	GAC|AGA	SDK2	-	NULL	ENSG00000069188		0.587	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	-	0	52	0	C	NM_019064		71437045	-1	tier1	-	no_errors	ENST00000392650	ensembl	human	known	74_37	missense	10.00	53	6	SNP	1.000	A	A	71437045	C	A	71437045	3	1	133	1	0	0	0	0	1	0	0	0	14014	913	32	3	6047	3	SDK2	17	71437045	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	5396928	71437045	9758165	426	34348											
OTOP2	92736	genome.wustl.edu	37	chr17	72927175	72927175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagcagtggccatcgtctCaacccccagaagccagtgga	11	5	12	13	1	1	1	1	0	1	1	3	3	1	3	4	3	3	1	4	3	3	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:72927175C>T	ENST00000580223.1	+	5	1475	c.1445C>T	c.(1444-1446)tCa>tTa	p.S482L	OTOP2_ENST00000331427.4_Missense_Mutation_p.S482L			Q7RTS6	OTOP2_HUMAN	otopetrin 2	482						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GCCATCGTCTCAACCCCCAGA	0.592																																																	0													80	84	82					17																	72927175		2203	4300	6503	SO:0001583	missense	0			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1445C>T	17.37:g.72927175C>T	ENSP00000463837:p.Ser482Leu			Missense_Mutation	SNP	pfam_Otopetrin	p.S482L	ENST00000580223.1	37	c.1445	CCDS11708.1	17	.	.	.	.	.	.	.	.	.	.	C	0.365	-0.937062	0.02340	.	.	ENSG00000183034	ENST00000331427	T	0.10192	2.9	4.96	-2.7	0.06004	.	2.671000	0.01581	N	0.021099	T	0.09113	0.0225	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	10	0.19590	T	0.45	-21.208	7.3921	0.26915	0.1222:0.6212:0.1236:0.133	.	482	Q7RTS6	OTOP2_HUMAN	L	482	ENSP00000332528:S482L	ENSP00000332528:S482L	S	+	2	0	OTOP2	70438770	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.936000	0.03946	-0.425000	0.07371	-0.379000	0.06801	TCA	OTOP2	-	NULL	ENSG00000183034		0.592	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP2	HGNC	protein_coding	OTTHUMT00000445306.1	-	0	58	0	C	NM_178160		72927175	1	tier1	-	no_errors	ENST00000331427	ensembl	human	known	74_37	missense	12.64	76	11	SNP	0.000	T	T	72927175	C	T	72927175	3	4	133	1	0	0	0	0	1	0	0	0	11345	838	29	3	1463	3	OTOP2	17	72927175	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1490130	72927175	8268035	427	34349											
ITGB4	3691	genome.wustl.edu	37	chr17	73747158	73747158	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacggtgagatcacagcctaCgaggtctgctatggcctggt	9	9	13	10	2	2	1	1	1	1	1	2	3	2	1	2	4	4	1	2	4	3	2	rs376494263		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:73747158C>T	ENST00000200181.3	+	30	3946	c.3759C>T	c.(3757-3759)taC>taT	p.Y1253Y	ITGB4_ENST00000450894.3_Silent_p.Y1253Y|ITGB4_ENST00000339591.3_Silent_p.Y1253Y|ITGB4_ENST00000449880.2_Silent_p.Y1253Y|ITGB4_ENST00000579662.1_Silent_p.Y1253Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1253	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TCACAGCCTACGAGGTCTGCT	0.597																																																	0								C	,,	0,4406		0,0,2203	91	82	85		3759,3759,3759	-9.7	0.5	17		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGB4	NM_000213.3,NM_001005619.1,NM_001005731.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	1253/1823,1253/1806,1253/1753	73747158	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				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.3759C>T	17.37:g.73747158C>T			A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.Y1253	ENST00000200181.3	37	c.3759	CCDS11727.1	17																																																																																			ITGB4	-	pirsf_Integrin_bsu-4,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000132470		0.597	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	-	0	38	0	C			73747158	1	tier1	-	no_errors	ENST00000200181	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.109	T	T	73747158	C	T	73747158	2	4	133	1	0	0	0	0	0	0	0	1	7924	547	19	1		1	ITGB4	17	73747158	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	819983	73747158	7448052	428	34350											
UBE2O	63893	genome.wustl.edu	37	chr17	74392719	74392719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccttgtcctcaggggccaCcggctgctccaggggtggga	4	8	15	14	1	1	0	1	0	0	0	4	1	4	1	5	6	1	2	5	6	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:74392719C>A	ENST00000319380.7	-	14	2363	c.2299G>T	c.(2299-2301)Gtg>Ttg	p.V767L	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	767					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						TCAGGGGCCACCGGCTGCTCC	0.647																																																	0													49	57	54					17																	74392719		2203	4298	6501	SO:0001583	missense	0			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.2299G>T	17.37:g.74392719C>A	ENSP00000323687:p.Val767Leu		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.V767L	ENST00000319380.7	37	c.2299	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	C	1.786	-0.480784	0.04383	.	.	ENSG00000175931	ENST00000319380	T	0.71934	-0.61	4.42	-1.64	0.08318	.	1.138540	0.06446	N	0.726847	T	0.41880	0.1178	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16808	-1.0390	10	0.14656	T	0.56	0.0226	1.421	0.02312	0.1216:0.351:0.238:0.2894	.	767	Q9C0C9	UBE2O_HUMAN	L	767	ENSP00000323687:V767L	ENSP00000323687:V767L	V	-	1	0	UBE2O	71904314	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.079000	0.14782	-0.127000	0.11661	-0.502000	0.04539	GTG	UBE2O	-	NULL	ENSG00000175931		0.647	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	-	0	45	0	C	NM_022066		74392719	-1	tier1	-	no_errors	ENST00000319380	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.000	A	A	74392719	C	A	74392719	3	1	133	1	0	0	0	0	1	0	0	0	16917	507	18	3	1599	3	UBE2O	17	74392719	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	645561	74392719	6802491	429	34351											
ENGASE	64772	genome.wustl.edu	37	chr17	77082110	77082110	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatccgcctctgagcgggaGgggccccctgctctgctcca	4	7	12	18	2	2	1	0	1	2	0	4	2	4	2	6	3	3	2	6	3	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:77082110G>A	ENST00000579016.1	+	14	1911	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	637						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CTGAGCGGGAGGGGCCCCCTG	0.667																																																	0													35	42	39					17																	77082110		2132	4242	6374	SO:0001819	synonymous_variant	0			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1911G>A	17.37:g.77082110G>A			Q659F0|Q8TB86|Q9H6U4	Silent	SNP	pfam_Glyco_hydro_85,pfscan_BRCT_dom	p.E637	ENST00000579016.1	37	c.1911	CCDS42394.1	17																																																																																			ENGASE	-	NULL	ENSG00000167280		0.667	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENGASE	HGNC	protein_coding	OTTHUMT00000395807.1	-	0	80	0	G	NM_022759		77082110	1	tier1	-	no_errors	ENST00000579016	ensembl	human	known	74_37	silent	5.66	100	6	SNP	0.006	A	A	77082110	G	A	77082110	2	1	133	1	0	0	0	0	0	0	0	1	5134	991	35	3		3	ENGASE	17	77082110	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2689391	77082110	4113100	430	34352											
EIF4A3	9775	genome.wustl.edu	37	chr17	78117984	78117984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttactgtgcgatgacatCtctccctttgatgatctgct	8	15	7	11	1	2	3	0	3	2	0	4	4	3	3	1	0	4	1	1	0	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:78117984C>G	ENST00000269349.3	-	2	450	c.229G>C	c.(229-231)Gat>Cat	p.D77H		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	77	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GCGATGACATCTCTCCCTTTG	0.473																																																	0													188	133	151					17																	78117984		2203	4300	6503	SO:0001583	missense	0			BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"DEAD-boxes"	18683	protein-coding gene	gene with protein product		608546	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 48", "eukaryotic translation initiation factor 4A, isoform 3"	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.229G>C	17.37:g.78117984C>G	ENSP00000269349:p.Asp77His		Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D77H	ENST00000269349.3	37	c.229	CCDS11767.1	17	.	.	.	.	.	.	.	.	.	.	c	17.71	3.456904	0.63401	.	.	ENSG00000141543	ENST00000269349	T	0.24350	1.86	5.59	4.62	0.57501	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.045624	0.85682	D	0.000000	T	0.58963	0.2159	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68853	-0.5299	10	0.87932	D	0	11.3701	12.2676	0.54686	0.0:0.9169:0.0:0.0831	.	77	P38919	IF4A3_HUMAN	H	77	ENSP00000269349:D77H	ENSP00000269349:D77H	D	-	1	0	EIF4A3	75732579	1.000000	0.71417	0.359000	0.25824	0.545000	0.35147	7.167000	0.77562	1.354000	0.45846	0.650000	0.86243	GAT	EIF4A3	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000141543		0.473	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A3	HGNC	protein_coding	OTTHUMT00000437446.1	-	0	86	0	C	NM_014740		78117984	-1	tier1	-	no_errors	ENST00000269349	ensembl	human	known	74_37	missense	21.82	86	24	SNP	0.999	G	G	78117984	C	G	78117984	3	3	133	1	0	0	0	0	1	0	0	0	5042	913	32	5	1050	5	EIF4A3	17	78117984	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1035874	78117984	3077226	431	34353											
BAIAP2	10458	genome.wustl.edu	37	chr17	79079945	79079945	+	Splice_Site	SNP	A	A	T	1	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	gcagtgacaggctgcacatgAggtgagctctgggcccaacg	9	6	15	11	1	1	3	0	3	1	0	1	3	1	3	1	3	3	4	1	3	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:79079945A>T	ENST00000321300.6	+	11	1429	c.1336A>T	c.(1336-1338)Agc>Tgc	p.S446C	BAIAP2_ENST00000321280.7_Splice_Site_p.S446C|BAIAP2_ENST00000575245.1_Splice_Site_p.S479C|BAIAP2_ENST00000392411.3_Splice_Site_p.S368C|BAIAP2_ENST00000416299.2_Splice_Site_p.S309C|BAIAP2_ENST00000428708.2_Splice_Site_p.S446C|BAIAP2_ENST00000435091.3_Splice_Site_p.S446C|BAIAP2_ENST00000575712.1_Splice_Site_p.S446C	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	446					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)			GCTGCACATGAGGTGAGCTCT	0.637																																																	0													57	49	51					17																	79079945		2187	4289	6476	SO:0001630	splice_region_variant	0			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.1337+1A>T	17.37:g.79079945A>T			O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S446C	ENST00000321300.6	37	c.1336	CCDS11775.1	17	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419356	0.62622	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.36520	1.63;1.7;1.26;1.26;1.69;1.25	4.97	4.97	0.65823	.	0.114408	0.64402	U	0.000017	T	0.48150	0.1484	L	0.52905	1.665	0.54753	D	0.999987	D;D;D;D;P;D;D;P;P	0.71674	0.99;0.99;0.998;0.966;0.956;0.989;0.98;0.956;0.956	P;P;P;P;P;P;P;P;P	0.55785	0.619;0.708;0.784;0.695;0.774;0.774;0.774;0.774;0.774	T	0.51896	-0.8647	10	0.87932	D	0	.	13.6132	0.62092	1.0:0.0:0.0:0.0	.	309;368;447;446;446;446;446;447;446	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	C	446;446;446;446;368;309	ENSP00000316338:S446C;ENSP00000401022:S446C;ENSP00000413069:S446C;ENSP00000315685:S446C;ENSP00000376211:S368C;ENSP00000391837:S309C	ENSP00000315685:S446C	S	+	1	0	BAIAP2	76694540	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.848000	0.48278	1.884000	0.54569	0.260000	0.18958	AGC	BAIAP2	-	NULL	ENSG00000175866		0.637	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	HGNC	protein_coding	OTTHUMT00000438553.1	-	0	45	0	A		Missense_Mutation	79079945	1	tier1	-	no_errors	ENST00000321300	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	T	T	79079945	A	T	79079945	5	4	133	1	0	0	0	0	0	0	1	0	1302	318	11	5	1378	5	BAIAP2	17	79079945	Splice_Site	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	961961	79079945	2115265	432	34354											
C17orf56	146705	genome.wustl.edu	37	chr17	79205458	79205458	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcaccaagctcaactcCtgctgacagtcactcagggc	9	8	8	16	0	4	1	4	1	0	0	6	1	6	1	3	1	3	2	3	1	2	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:79205458C>G	ENST00000300714.3	-	9	792	c.735G>C	c.(733-735)caG>caC	p.Q245H	ENTHD2_ENST00000374769.2_Missense_Mutation_p.Q161H|AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	245						cytoplasmic vesicle (GO:0031410)											AGCTCAACTCCTGCTGACAGT	0.662																																																	0													36	32	34					17																	79205458		2203	4300	6503	SO:0001583	missense	0			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.735G>C	17.37:g.79205458C>G	ENSP00000300714:p.Gln245His		Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.Q245H	ENST00000300714.3	37	c.735	CCDS11779.1	17	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470896	0.43942	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.23754	1.89;1.89	4.79	1.6	0.23607	.	0.124501	0.56097	D	0.000039	T	0.42832	0.1220	M	0.62016	1.91	0.45852	D	0.998717	D;D	0.89917	0.998;1.0	D;D	0.87578	0.942;0.998	T	0.28839	-1.0031	10	0.87932	D	0	-27.7105	8.7491	0.34605	0.0:0.6833:0.0:0.3167	.	245;161	Q96N21;Q96N21-2	CQ056_HUMAN;.	H	245;161	ENSP00000300714:Q245H;ENSP00000363901:Q161H	ENSP00000300714:Q245H	Q	-	3	2	C17orf56	76820053	0.997000	0.39634	1.000000	0.80357	0.123000	0.20343	0.480000	0.22244	0.533000	0.28675	0.561000	0.74099	CAG	ENTHD2	-	NULL	ENSG00000167302		0.662	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	-	0	47	0	C	NM_144679		79205458	-1	tier1	-	no_errors	ENST00000300714	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	G	G	79205458	C	G	79205458	3	3	133	1	0	0	0	0	1	0	0	0	1870	680	24	5	858	5	C17orf56	17	79205458	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	125513	79205458	1989752	433	34355											
FASN	2194	genome.wustl.edu	37	chr17	80043514	80043514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagctgaggccgggtccccGagggcagccacagcacagtt	9	4	15	13	2	0	2	0	1	0	1	1	3	1	2	4	3	3	4	4	3	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:80043514G>A	ENST00000306749.2	-	23	4184	c.3966C>T	c.(3964-3966)ctC>ctT	p.L1322L	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1322					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)	CCGGGTCCCCGAGGGCAGCCA	0.697																																					Colon(59;314 1043 11189 28578 32273)												0													13	15	14					17																	80043514		2175	4280	6455	SO:0001819	synonymous_variant	0			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.3966C>T	17.37:g.80043514G>A			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.L1322	ENST00000306749.2	37	c.3966	CCDS11801.1	17																																																																																			FASN	-	pfam_Methyltransf_12,pfam_Methyltransf_11	ENSG00000169710		0.697	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0	112	0	G	NM_004104		80043514	-1	tier1	-	no_errors	ENST00000306749	ensembl	human	known	74_37	silent	8.57	95	9	SNP	0.001	A	A	80043514	G	A	80043514	2	1	133	1	0	0	0	0	0	0	0	1	5705	1045	37	1		1	FASN	17	80043514	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	838056	80043514	1151696	434	34356											
ZNF750	79755	genome.wustl.edu	37	chr17	80790122	80790122	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgcttggggtctagtGagttagatttagggcacttg	6	16	15	4	0	1	2	0	1	1	1	1	2	1	2	0	4	1	4	0	4	3	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr17:80790122G>T	ENST00000269394.3	-	2	1042	c.209C>A	c.(208-210)tCa>tAa	p.S70*	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	70					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGGGTCTAGTGAGTTAGATTT	0.468																																																	0													141	117	125					17																	80790122		2203	4300	6503	SO:0001587	stop_gained	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.209C>A	17.37:g.80790122G>T	ENSP00000269394:p.Ser70*		Q9H899	Nonsense_Mutation	SNP	NULL	p.S70*	ENST00000269394.3	37	c.209	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	G	40	8.037065	0.98621	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.86	5.86	0.93980	.	0.274240	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.8232	19.1589	0.93524	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	.	S	-	2	0	ZNF750	78383411	0.793000	0.28825	0.007000	0.13788	0.014000	0.08584	5.269000	0.65542	2.773000	0.95371	0.655000	0.94253	TCA	ZNF750	-	NULL	ENSG00000141579		0.468	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	0	71	0	G	NM_024702		80790122	-1	tier1	-	no_errors	ENST00000269394	ensembl	human	known	74_37	nonsense	29.27	58	24	SNP	0.201	T	T	80790122	G	T	80790122	4	4	133	1	0	0	0	0	0	1	0	0	18180	1294	45	3	1970	3	ZNF750	17	80790122	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	746608	80790122	405088	435	34357											
ANKRD12	23253	genome.wustl.edu	37	chr18	9255003	9255003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcattacagcctgatCttgttcggtatgataataca	13	14	7	7	1	2	2	1	2	1	0	3	2	2	2	1	1	3	2	1	1	5	6	rs148294667	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr18:9255003C>A	ENST00000262126.4	+	9	1978	c.1738C>A	c.(1738-1740)Ctt>Att	p.L580I	ANKRD12_ENST00000383440.2_Missense_Mutation_p.L557I|ANKRD12_ENST00000400020.3_Missense_Mutation_p.L557I	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	580						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L580V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACAGCCTGATCTTGTTCGGTA	0.333																																																	1	Substitution - Missense(1)	lung(1)						C	ILE/LEU,ILE/LEU,ILE/LEU	1,4401	2.1+/-5.4	0,1,2200	65	66	65		1669,1669,1738	5.7	1	18	dbSNP_134	65	3,8591	3.0+/-9.4	0,3,4294	yes	missense,missense,missense	ANKRD12	NM_001083625.2,NM_001204056.1,NM_015208.4	5,5,5	0,4,6494	AA,AC,CC		0.0349,0.0227,0.0308	possibly-damaging,possibly-damaging,possibly-damaging	557/2040,557/2040,580/2063	9255003	4,12992	2201	4297	6498	SO:0001583	missense	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1738C>A	18.37:g.9255003C>A	ENSP00000262126:p.Leu580Ile		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L580I	ENST00000262126.4	37	c.1738	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524644	0.44969	2.27E-4	3.49E-4	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.94650	-3.48;-3.48	5.71	5.71	0.89125	.	0.285463	0.33792	N	0.004551	D	0.95007	0.8384	L	0.57536	1.79	0.34214	D	0.674596	D;P;P	0.63046	0.992;0.867;0.791	P;P;B	0.57009	0.811;0.461;0.272	D	0.96668	0.9494	10	0.52906	T	0.07	-12.443	10.8832	0.46951	0.0:0.8864:0.0:0.1136	.	207;557;580	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	I	557;580;287	ENSP00000372932:L557I;ENSP00000262126:L580I	ENSP00000262126:L580I	L	+	1	0	ANKRD12	9245003	0.998000	0.40836	0.996000	0.52242	0.992000	0.81027	3.435000	0.52849	2.704000	0.92352	0.585000	0.79938	CTT	ANKRD12	-	NULL	ENSG00000101745		0.333	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2		0	23	0	C	NM_015208		9255003	1			no_errors	ENST00000262126	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.945	A	A	9255003	C	A	9255003	3	1	133	1	0	0	0	0	1	0	0	0	640	913	32	3	1768	3	ANKRD12	18	9255003	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		9255003	68822245	436	34358											
ZNF519	162655	genome.wustl.edu	37	chr18	14105606	14105606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctccagtatggattctCtgatgttgagcaaggtgtga	8	15	11	7	0	2	3	0	3	2	0	5	4	3	4	1	2	1	3	1	2	2	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr18:14105606C>G	ENST00000590202.1	-	3	1085	c.933G>C	c.(931-933)caG>caC	p.Q311H	ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	311					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TATGGATTCTCTGATGTTGAG	0.388																																																	0													74	76	76					18																	14105606		2203	4300	6503	SO:0001583	missense	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.933G>C	18.37:g.14105606C>G	ENSP00000464872:p.Gln311His			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q311H	ENST00000590202.1	37	c.933	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508678	0.27036	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21022	0.0506	L	0.28556	0.865	0.27550	N	0.950519	B	0.27559	0.181	B	0.21151	0.033	T	0.19451	-1.0305	8	0.49607	T	0.09	.	3.0733	0.06237	0.0:0.6613:0.0:0.3387	.	311	Q8TB69	ZN519_HUMAN	H	311	.	ENSP00000307908:Q311H	Q	-	3	2	ZNF519	14095606	0.000000	0.05858	0.824000	0.32777	0.541000	0.35023	0.155000	0.16362	0.661000	0.30985	0.089000	0.15464	CAG	ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175322		0.388	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	-	0	58	0	C	NM_145287		14105606	-1	tier1	-	no_errors	ENST00000590202	ensembl	human	known	74_37	missense	7.89	70	6	SNP	0.986	G	G	14105606	C	G	14105606	3	3	133	1	0	0	0	0	1	0	0	0	18012	912	32	5	693	5	ZNF519	18	14105606	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	4850603	14105606	63971642	437	34359											
CTAGE1	64693	genome.wustl.edu	37	chr18	19997426	19997426	+	5'Flank	SNP	A	A	T	1	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	ttttaactctttttctagacAgagtatttcatgcacaagtt	11	18	5	7	0	3	2	1	0	2	2	3	2	3	2	0	0	2	3	0	0	4	8			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr18:19997426A>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.C117S			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)					TTTTCTAGACAGAGTATTTCA	0.393																																																	0													101	112	108					18																	19997426		2179	4292	6471	SO:0001631	upstream_gene_variant	0			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997426A>T	Exception_encountered		B0YIZ3	Missense_Mutation	SNP	NULL	p.C117S	ENST00000525417.1	37	c.349		18	.	.	.	.	.	.	.	.	.	.	A	3.863	-0.029458	0.07589	.	.	ENSG00000212710	ENST00000391403	T	0.74632	-0.86	0.949	0.949	0.19566	.	.	.	.	.	T	0.55289	0.1911	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.36163	-0.9759	8	.	.	.	.	4.1182	0.10092	1.0:0.0:0.0:0.0	.	117	Q96RT6	CTGE2_HUMAN	S	117	ENSP00000375220:C117S	.	C	-	1	0	CTAGE1	18251424	0.000000	0.05858	0.081000	0.20488	0.322000	0.28314	-0.149000	0.10204	0.652000	0.30806	0.374000	0.22700	TGT	CTAGE1	-	NULL	ENSG00000212710		0.393	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	-	0	149	0	A	NM_022663, NM_172241		19997426	-1	tier1	-	no_errors	ENST00000391403	ensembl	human	known	74_37	missense	6.86	163	12	SNP	0.163	T	T	19997426	A	T	19997426	1	4	133	0	1	0	0	0	0	0	0	0	4001	188	7	5		5	CTAGE1	18	19997426	5'Flank	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	5891820	19997426	58079822	438	34360											
CDH7	1005	genome.wustl.edu	37	chr18	63489458	63489458	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaccctaactgatgtcaAcgataatccacctcgctttc	10	12	6	13	2	1	2	1	2	0	0	4	3	2	2	3	0	2	1	3	0	3	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr18:63489458A>T	ENST00000397968.2	+	5	1193	c.767A>T	c.(766-768)aAc>aTc	p.N256I	CDH7_ENST00000323011.3_Missense_Mutation_p.N256I|CDH7_ENST00000536984.2_Missense_Mutation_p.N256I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	256	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(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACTGATGTCAACGATAATCCA	0.388																																																	0													167	119	135					18																	63489458		2203	4300	6503	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.767A>T	18.37:g.63489458A>T	ENSP00000381058:p.Asn256Ile		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N256I	ENST00000397968.2	37	c.767	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	A	22.3	4.275781	0.80580	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.77750	-1.12;-1.12;-1.12	5.0	5.0	0.66597	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.104300	0.64402	D	0.000012	D	0.91064	0.7188	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.93569	0.6902	10	0.87932	D	0	.	15.0123	0.71557	1.0:0.0:0.0:0.0	.	256;256	F5H5X9;Q9ULB5	.;CADH7_HUMAN	I	256	ENSP00000319166:N256I;ENSP00000443030:N256I;ENSP00000381058:N256I	ENSP00000319166:N256I	N	+	2	0	CDH7	61640438	1.000000	0.71417	0.977000	0.42913	0.890000	0.51754	8.755000	0.91646	1.999000	0.58509	0.477000	0.44152	AAC	CDH7	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000081138		0.388	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	-	0	47	0	A	NM_033646		63489458	1	tier1	-	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	63489458	A	T	63489458	3	4	133	1	0	0	0	0	1	0	0	0	3122	43	2	5	781	5	CDH7	18	63489458	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	43492032	63489458	14587790	439	34361											
LPPR3	79948	genome.wustl.edu	37	chr19	815235	815235	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttgaagttgcagccgccGgcgttgatgctgccctccgc	5	9	14	13	4	0	2	0	2	0	0	1	3	1	2	4	1	4	5	4	1	1	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:815235G>T	ENST00000520876.3	-	4	432	c.354C>A	c.(352-354)gcC>gcA	p.A118A	LPPR3_ENST00000359894.2_Silent_p.A118A|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		118						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										TGCAGCCGCCGGCGTTGATGC	0.687																																																	0													16	21	19					19																	815235		2160	4261	6421	SO:0001819	synonymous_variant	0																														ENST00000520876.3:c.354C>A	19.37:g.815235G>T			Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.A118	ENST00000520876.3	37	c.354	CCDS58636.1	19																																																																																			LPPR3	-	superfamily_P_Acid_Pase_2/haloperoxidase	ENSG00000129951		0.687	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	Uniprot_gn	protein_coding	OTTHUMT00000379096.3	-	0	22	0	G			815235	-1	tier1	-	no_errors	ENST00000359894	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.079	T	T	815235	G	T	815235	2	4	133	1	0	0	0	0	0	0	0	1	8961	1103	39	2		2	LPPR3	19	815235	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09		815235	58313748	440	34362											
GNA15	2769	genome.wustl.edu	37	chr19	3157847	3157847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaggagaaaatccccacctCccacctggctacctatttcc	10	8	7	16	0	0	1	0	0	0	1	3	3	3	2	7	3	1	1	7	3	4	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:3157847C>T	ENST00000262958.3	+	6	1124	c.866C>T	c.(865-867)tCc>tTc	p.S289F	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	289					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ATCCCCACCTCCCACCTGGCT	0.473																																																	0													185	173	177					19																	3157847		2203	4300	6503	SO:0001583	missense	0				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.866C>T	19.37:g.3157847C>T	ENSP00000262958:p.Ser289Phe		E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.S289F	ENST00000262958.3	37	c.866	CCDS12104.1	19	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999907	0.74818	.	.	ENSG00000060558	ENST00000262958	D	0.88896	-2.44	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000002	D	0.94798	0.8320	M	0.86343	2.81	0.53688	D	0.999979	D	0.89917	1.0	D	0.80764	0.994	D	0.95675	0.8727	10	0.87932	D	0	.	15.0612	0.71955	0.0:1.0:0.0:0.0	.	289	P30679	GNA15_HUMAN	F	289	ENSP00000262958:S289F	ENSP00000262958:S289F	S	+	2	0	GNA15	3108847	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	4.650000	0.61440	2.156000	0.67533	0.544000	0.68410	TCC	GNA15	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000060558		0.473	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2	-	0	127	0	C	NM_002068		3157847	1	tier1	-	no_errors	ENST00000262958	ensembl	human	known	74_37	missense	5.41	175	10	SNP	0.997	T	T	3157847	C	T	3157847	3	4	133	1	0	0	0	0	1	0	0	0	6529	855	30	3	888	3	GNA15	19	3157847	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2342612	3157847	55971136	441	34363											
SEMA6B	10501	genome.wustl.edu	37	chr19	4552571	4552571	+	Frame_Shift_Del	DEL	G	G	-																															ttgagccgcgccttcaggaaGgacgtccactgcttctccag																										TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:4552571delG	ENST00000586582.1	-	10	1162	c.852delC	c.(850-852)tccfs	p.S284fs	SEMA6B_ENST00000301293.3_Frame_Shift_Del_p.S284fs|SEMA6B_ENST00000586965.1_Frame_Shift_Del_p.S284fs	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	284	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)		CCTTCAGGAAGGACGTCCACT	0.667																																																	0													35	30	32					19																	4552571		2203	4297	6500	SO:0001589	frameshift_variant	0			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.852delC	19.37:g.4552571delG	ENSP00000467290:p.Ser284fs		A5PKU4|F6IB19|Q9NRK9	Frame_Shift_Del	DEL	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.F285fs	ENST00000586582.1	37	c.852	CCDS12131.1	19																																																																																			SEMA6B	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000167680		0.667	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6B	HGNC	protein_coding	OTTHUMT00000458656.2		0	122	0	G	NM_032108		4552571	-1			no_errors	ENST00000301293	ensembl	human	known	74_37	frame_shift_del	5.26	126	7	DEL	0.968	0	-	4552571	G	-	4552571	7	5	133	1	0	1	0	1	0	0	0	0	14085	987	35	0	1846	0	SEMA6B	19	4552571	Frame_Shift_Del	DEL	G	TCGA-LN-A9FP-01A-31D-A387-09	1394724	4552571	54576412	442	34364											
RANBP3	8498	genome.wustl.edu	37	chr19	5941834	5941834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccttcaggactggagcCgccagctgacctctgaaaca	9	7	10	15	2	2	2	1	2	1	0	3	4	3	4	5	2	3	1	5	2	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:5941834C>A	ENST00000340578.6	-	4	352	c.295G>T	c.(295-297)Ggc>Tgc	p.G99C	RANBP3_ENST00000591092.1_Missense_Mutation_p.G31C|RANBP3_ENST00000541471.1_Intron|RANBP3_ENST00000034275.8_Missense_Mutation_p.G31C|RANBP3_ENST00000439268.2_Missense_Mutation_p.G99C|RANBP3_ENST00000591124.1_5'UTR	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	99					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						GGACTGGAGCCGCCAGCTGAC	0.532																																																	0													57	60	59					19																	5941834		2013	4197	6210	SO:0001583	missense	0			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.295G>T	19.37:g.5941834C>A	ENSP00000341483:p.Gly99Cys		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.G99C	ENST00000340578.6	37	c.295	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380073	0.61845	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807	T;T;T	0.39997	1.09;1.05;2.12	5.2	3.07	0.35406	.	0.101398	0.64402	D	0.000002	T	0.47893	0.1470	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.72338	0.926;0.966;0.977;0.949	T	0.44159	-0.9346	10	0.72032	D	0.01	-13.7225	9.1697	0.37074	0.0:0.8185:0.0:0.1815	.	31;31;99;99	B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;RANB3_HUMAN	C	99;99;31;30	ENSP00000341483:G99C;ENSP00000404837:G99C;ENSP00000034275:G31C	ENSP00000034275:G31C	G	-	1	0	RANBP3	5892834	0.998000	0.40836	0.800000	0.32199	0.946000	0.59487	3.026000	0.49689	0.577000	0.29470	-0.126000	0.14955	GGC	RANBP3	-	NULL	ENSG00000031823		0.532	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	-	0	36	0	C	NM_007322		5941834	-1	tier1	-	no_errors	ENST00000340578	ensembl	human	known	74_37	missense	13.33	39	6	SNP	0.993	A	A	5941834	C	A	5941834	3	1	133	1	0	0	0	0	1	0	0	0	13074	652	23	2	1464	2	RANBP3	19	5941834	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1389263	5941834	53187149	443	34365											
FBN3	84467	genome.wustl.edu	37	chr19	8174147	8174147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacagctcacagggattgcCccaagcccggcccagggagc	9	3	13	16	1	1	0	1	0	0	0	1	2	1	2	4	3	4	2	4	3	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:8174147C>G	ENST00000600128.1	-	36	4996	c.4582G>C	c.(4582-4584)Ggc>Cgc	p.G1528R	FBN3_ENST00000601739.1_Missense_Mutation_p.G1528R|FBN3_ENST00000270509.2_Missense_Mutation_p.G1528R			Q75N90	FBN3_HUMAN	fibrillin 3	1528	TB 6.					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						CAGGGATTGCCCCAAGCCCGG	0.642																																																	0													64	58	60					19																	8174147		2203	4300	6503	SO:0001583	missense	0				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.4582G>C	19.37:g.8174147C>G	ENSP00000470498:p.Gly1528Arg		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.G1528R	ENST00000600128.1	37	c.4582	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362431	0.61403	.	.	ENSG00000142449	ENST00000270509	D	0.97791	-4.54	4.23	4.23	0.50019	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	U	0.000000	D	0.99036	0.9670	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99250	1.0887	10	0.51188	T	0.08	.	16.5549	0.84482	0.0:1.0:0.0:0.0	.	1528	Q75N90	FBN3_HUMAN	R	1528	ENSP00000270509:G1528R	ENSP00000270509:G1528R	G	-	1	0	FBN3	8080147	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	7.351000	0.79395	2.068000	0.61886	0.313000	0.20887	GGC	FBN3	-	pfam_TB_dom,superfamily_TB_dom,pirsf_FBN	ENSG00000142449		0.642	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0	72	0	C	NM_032447		8174147	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	16.67	60	12	SNP	1.000	G	G	8174147	C	G	8174147	3	3	133	1	0	0	0	0	1	0	0	0	5726	623	22	5	3963	5	FBN3	19	8174147	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2232313	8174147	50954836	444	34366											
ACTL9	284382	genome.wustl.edu	37	chr19	8808653	8808653	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactcggaggtcgtgctcCagcaggtggcgccagatgag	7	6	16	12	3	0	2	0	1	0	1	3	3	1	3	3	4	2	2	3	4	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:8808653C>A	ENST00000324436.3	-	1	519	c.399G>T	c.(397-399)ctG>ctT	p.L133L		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	133						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGTCGTGCTCCAGCAGGTGGC	0.692																																																	0													32	38	36					19																	8808653		2202	4296	6498	SO:0001819	synonymous_variant	0				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.399G>T	19.37:g.8808653C>A			A8K893|Q6X960	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.L133	ENST00000324436.3	37	c.399	CCDS12207.1	19																																																																																			ACTL9	-	pfam_Actin-related,smart_Actin-related	ENSG00000181786		0.692	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	HGNC	protein_coding	OTTHUMT00000459953.1	-	0	34	0	C	NM_178525		8808653	-1	tier1	-	no_errors	ENST00000324436	ensembl	human	known	74_37	silent	20.69	23	6	SNP	1.000	A	A	8808653	C	A	8808653	2	1	133	1	0	0	0	0	0	0	0	1	203	581	21	3		3	ACTL9	19	8808653	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	634506	8808653	50320330	445	34367											
TYK2	7297	genome.wustl.edu	37	chr19	10461829	10461829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagcaatgcctatgagctCaaggaatttctacagtataa	14	11	8	8	0	2	2	1	2	1	0	2	3	2	3	1	1	4	3	1	1	7	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:10461829C>G	ENST00000525621.1	-	24	3809	c.3328G>C	c.(3328-3330)Gag>Cag	p.E1110Q	TYK2_ENST00000524462.1_Missense_Mutation_p.E925Q|TYK2_ENST00000264818.6_Missense_Mutation_p.E1110Q|TYK2_ENST00000529422.1_5'UTR	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1110	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCTATGAGCTCAAGGAATTTC	0.512																																																	0													52	47	48					19																	10461829		2203	4300	6503	SO:0001583	missense	0				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.3328G>C	19.37:g.10461829C>G	ENSP00000431885:p.Glu1110Gln		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.E1110Q	ENST00000525621.1	37	c.3328	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169889	0.78452	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	T;T;T	0.76968	-1.06;-1.05;-1.05	5.68	5.68	0.88126	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000070	T	0.77103	0.4081	N	0.12637	0.245	0.80722	D	1	D	0.65815	0.995	D	0.63033	0.91	T	0.78086	-0.2341	10	0.37606	T	0.19	-43.5793	17.2702	0.87099	0.0:1.0:0.0:0.0	.	1110	P29597	TYK2_HUMAN	Q	925;1110;1110;857	ENSP00000433203:E925Q;ENSP00000431885:E1110Q;ENSP00000264818:E1110Q	ENSP00000264818:E1110Q	E	-	1	0	TYK2	10322829	0.965000	0.33210	0.960000	0.40013	0.597000	0.36814	2.272000	0.43373	2.676000	0.91093	0.591000	0.81541	GAG	TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	ENSG00000105397		0.512	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1		0	32	0	C			10461829	-1			no_errors	ENST00000264818	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.999	G	G	10461829	C	G	10461829	3	3	133	1	0	0	0	0	1	0	0	0	16859	835	29	5	243	5	TYK2	19	10461829	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1653176	10461829	48667154	446	34368											
TYK2	7297	genome.wustl.edu	37	chr19	10463209	10463209	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtagaacttatactccttCaggcactctggggcatacct	10	12	8	11	0	2	1	1	0	1	1	3	1	3	1	2	3	3	3	2	3	6	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:10463209C>G	ENST00000525621.1	-	23	3700	c.3219G>C	c.(3217-3219)ctG>ctC	p.L1073L	TYK2_ENST00000524462.1_Silent_p.L888L|TYK2_ENST00000264818.6_Silent_p.L1073L|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1073	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TATACTCCTTCAGGCACTCTG	0.622																																																	0													69	70	70					19																	10463209		2203	4300	6503	SO:0001819	synonymous_variant	0				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.3219G>C	19.37:g.10463209C>G			Q6QB10|Q96CH0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.L1073	ENST00000525621.1	37	c.3219	CCDS12236.1	19																																																																																			TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000105397		0.622	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	-	0	52	0	C			10463209	-1	tier1	-	no_errors	ENST00000264818	ensembl	human	known	74_37	silent	7.95	81	7	SNP	0.998	G	G	10463209	C	G	10463209	2	3	133	1	0	0	0	0	0	0	0	1	16859	813	29	5		5	TYK2	19	10463209	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1380	10463209	48665774	447	34369											
YIPF2	78992	genome.wustl.edu	37	chr19	11038537	11038537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	atagctgccacctgagcccaCggccacagccacgtgccctt	8	6	9	18	2	0	1	0	1	0	0	0	1	0	1	6	1	5	1	6	1	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:11038537C>T	ENST00000586748.1	-	3	302	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_Missense_Mutation_p.V44M|YIPF2_ENST00000590329.1_Missense_Mutation_p.V44M			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	44						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCTGAGCCCACGGCCACAGCC	0.627																																																	0													80	78	79					19																	11038537		2203	4300	6503	SO:0001583	missense	0			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.130G>A	19.37:g.11038537C>T	ENSP00000466055:p.Val44Met			Missense_Mutation	SNP	pfam_Yip1	p.V44M	ENST00000586748.1	37	c.130	CCDS12251.1	19	.	.	.	.	.	.	.	.	.	.	C	12.21	1.871028	0.33069	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.78	-4.67	0.03319	.	0.709223	0.12997	N	0.421995	T	0.20088	0.0483	N	0.15975	0.35	0.09310	N	0.999998	B	0.16802	0.019	B	0.11329	0.006	T	0.10245	-1.0638	9	0.46703	T	0.11	.	6.9225	0.24395	0.1167:0.3553:0.0:0.528	.	44	Q9BWQ6	YIPF2_HUMAN	M	44	.	ENSP00000253031:V44M	V	-	1	0	YIPF2	10899537	0.000000	0.05858	0.003000	0.11579	0.660000	0.38997	-0.404000	0.07205	-0.957000	0.03627	0.655000	0.94253	GTG	YIPF2	-	NULL	ENSG00000130733		0.627	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YIPF2	HGNC	protein_coding	OTTHUMT00000453045.1	-	0	62	0	C	NM_024029		11038537	-1	tier1	-	no_errors	ENST00000253031	ensembl	human	known	74_37	missense	7.81	59	5	SNP	0.001	T	T	11038537	C	T	11038537	3	4	133	1	0	0	0	0	1	0	0	0	17527	536	19	1	848	1	YIPF2	19	11038537	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	575328	11038537	48090446	448	34370											
ZNF563	147837	genome.wustl.edu	37	chr19	12430083	12430083	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacactgcttacattcataCggtttctccccagtgtgcat	9	13	7	12	1	2	0	1	0	1	0	3	1	2	0	2	1	5	3	2	1	3	4	rs187827621		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:12430083C>A	ENST00000293725.5	-	4	961	c.756G>T	c.(754-756)ccG>ccT	p.P252P	ZNF563_ENST00000595977.1_Missense_Mutation_p.R213L	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	252					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(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TACATTCATACGGTTTCTCCC	0.403																																					GBM(39;623 795 5132 29510 31476)												0													144	146	145					19																	12430083		2203	4300	6503	SO:0001819	synonymous_variant	0			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.756G>T	19.37:g.12430083C>A			B2R9E7|Q8NAT7	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R213L	ENST00000293725.5	37	c.638	CCDS12270.1	19	.	.	.	.	.	.	.	.	.	.	C	2.518	-0.311340	0.05422	.	.	ENSG00000188868	ENST00000318168	.	.	.	1.0	-2.0	0.07433	.	.	.	.	.	T	0.19604	0.0471	.	.	.	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.20207	-1.0282	7	0.45353	T	0.12	.	0.0555	0.00013	0.3046:0.1696:0.2033:0.3225	.	213	Q8TA94-2	.	L	213	.	ENSP00000313712:R213L	R	-	2	0	ZNF563	12291083	0.000000	0.05858	0.197000	0.23402	0.137000	0.21094	-2.471000	0.00990	-1.615000	0.01573	-0.657000	0.03884	CGT	ZNF563	-	NULL	ENSG00000188868		0.403	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	-	0	134	0	C	NM_145276		12430083	-1	tier1	-	no_errors	ENST00000595977	ensembl	human	known	74_37	missense	7.81	177	15	SNP	0.008	A	A	12430083	C	A	12430083	2	1	133	1	0	0	0	0	0	0	0	1	18042	523	19	2		2	ZNF563	19	12430083	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1391546	12430083	46698900	449	34371											
CACNA1A	773	genome.wustl.edu	37	chr19	13410024	13410024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggccgcaggtgccgcGtgtaggcagccttccagcgc	4	8	15	14	4	1	0	0	0	1	0	2	0	2	0	4	3	3	3	4	3	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:13410024G>T	ENST00000360228.5	-	19	2422	c.2423C>A	c.(2422-2424)aCg>aAg	p.T808K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.T809K	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	809					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)	p.T809M(3)|p.T808M(1)		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)	CAGGTGCCGCGTGTAGGCAGC	0.642																																																	4	Substitution - Missense(4)	prostate(4)											47	54	52					19																	13410024		2037	4162	6199	SO:0001583	missense	0			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.2423C>A	19.37:g.13410024G>T	ENSP00000353362:p.Thr808Lys		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.T808K	ENST00000360228.5	37	c.2423	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	1.893	-0.455058	0.04540	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95622	-3.76	3.99	1.56	0.23342	.	1.904990	0.03030	N	0.151895	D	0.91616	0.7351	N	0.24115	0.695	0.09310	N	1	B;B;B	0.26512	0.005;0.151;0.094	B;B;B	0.22601	0.005;0.04;0.018	T	0.83080	-0.0138	10	0.54805	T	0.06	.	10.4736	0.44652	0.0:0.5243:0.4756:0.0	.	809;812;808	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	808;812;809;809	ENSP00000353362:T808K	ENSP00000317661:T809K	T	-	2	0	CACNA1A	13271024	0.167000	0.22975	0.052000	0.19188	0.010000	0.07245	1.666000	0.37460	0.847000	0.35167	0.555000	0.69702	ACG	CACNA1A	-	NULL	ENSG00000141837		0.642	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	-	0	127	0	G	NM_000068		13410024	-1	tier1	-	no_errors	ENST00000360228	ensembl	human	known	74_37	missense	8.19	157	14	SNP	0.252	T	T	13410024	G	T	13410024	3	4	133	1	0	0	0	0	1	0	0	0	2545	1145	40	2	5315	2	CACNA1A	19	13410024	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	979941	13410024	45718959	450	34372											
PKN1	5585	genome.wustl.edu	37	chr19	14578588	14578588	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcctggcggtgctgggcCggggtcattttgggaaggtg	4	11	19	7	2	1	0	1	0	0	0	2	1	2	1	2	7	1	2	2	7	1	3	rs567970117		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:14578588C>A	ENST00000242783.6	+	14	2032	c.1867C>A	c.(1867-1869)Cgg>Agg	p.R623R	PKN1_ENST00000342216.4_Silent_p.R629R	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	623	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGCTGGGCCGGGGTCATTT	0.622																																					NSCLC(185;2539 2965 10733 52867)												0													51	56	55					19																	14578588		1929	4131	6060	SO:0001819	synonymous_variant	0			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1867C>A	19.37:g.14578588C>A			A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.R629	ENST00000242783.6	37	c.1885	CCDS42513.1	19																																																																																			PKN1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000123143		0.622	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN1	HGNC	protein_coding	OTTHUMT00000095510.1	-	0	100	0	C	NM_002741, NM_213560		14578588	1	tier1	-	no_errors	ENST00000342216	ensembl	human	known	74_37	silent	11.22	87	11	SNP	1.000	A	A	14578588	C	A	14578588	2	1	133	1	0	0	0	0	0	0	0	1	12018	643	23	2		2	PKN1	19	14578588	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1168564	14578588	44550395	451	34373											
PGLYRP2	114770	genome.wustl.edu	37	chr19	15582811	15582811	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggtggtgcaggcacgtaggtGtgatgcacgtacaagaatcc	10	8	15	8	2	0	2	0	1	0	1	1	2	1	2	1	4	3	5	1	4	4	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:15582811G>T	ENST00000340880.4	-	3	1713	c.1233C>A	c.(1231-1233)caC>caA	p.H411Q	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.H411Q	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	411					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						GCACGTAGGTGTGATGCACGT	0.677																																																	0													61	51	55					19																	15582811		2203	4300	6503	SO:0001583	missense	0			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.1233C>A	19.37:g.15582811G>T	ENSP00000345968:p.His411Gln		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.H411Q	ENST00000340880.4	37	c.1233	CCDS12330.2	19	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711082	0.48517	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.25250	1.81;1.81	4.43	2.24	0.28232	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	H	0.94698	3.57	0.50813	D	0.999896	D;D	0.69078	0.978;0.997	D;D	0.78314	0.976;0.991	T	0.64812	-0.6319	10	0.87932	D	0	-11.2272	9.1676	0.37060	0.1984:0.0:0.8016:0.0	.	411;411	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Q	411	ENSP00000345968:H411Q;ENSP00000292609:H411Q	ENSP00000292609:H411Q	H	-	3	2	PGLYRP2	15443811	1.000000	0.71417	0.996000	0.52242	0.149000	0.21700	2.646000	0.46630	0.991000	0.38814	0.561000	0.74099	CAC	PGLYRP2	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	ENSG00000161031		0.677	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	-	0	109	0	G	NM_052890		15582811	-1	tier1	-	no_errors	ENST00000292609	ensembl	human	known	74_37	missense	9.45	115	12	SNP	1.000	T	T	15582811	G	T	15582811	3	4	133	1	0	0	0	0	1	0	0	0	11833	1368	48	3	509	3	PGLYRP2	19	15582811	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1004223	15582811	43546172	452	34374											
NWD1	284434	genome.wustl.edu	37	chr19	16883997	16883997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcgccacctcacatcCagcactggtgggacagctat	8	11	8	14	1	2	0	1	0	1	0	4	1	3	1	3	2	2	2	3	2	1	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:16883997C>A	ENST00000552788.1	+	9	2471	c.2471C>A	c.(2470-2472)cCa>cAa	p.P824Q	NWD1_ENST00000523826.1_Missense_Mutation_p.P618Q|NWD1_ENST00000339803.6_Missense_Mutation_p.P689Q|NWD1_ENST00000379808.3_Missense_Mutation_p.P824Q|NWD1_ENST00000549814.1_Missense_Mutation_p.P824Q|NWD1_ENST00000524140.2_Missense_Mutation_p.P824Q			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	824							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCTCACATCCAGCACTGGTG	0.587																																																	0													76	74	75					19																	16883997		2203	4300	6503	SO:0001583	missense	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2471C>A	19.37:g.16883997C>A	ENSP00000447224:p.Pro824Gln		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P824Q	ENST00000552788.1	37	c.2471		19	.	.	.	.	.	.	.	.	.	.	-	13.90	2.374940	0.42105	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.59772	0.27;0.32;0.27;0.24;0.32;0.3	4.04	1.8	0.24995	.	0.396039	0.24662	N	0.036625	T	0.70640	0.3247	M	0.76002	2.32	0.09310	N	0.999999	D;D;D	0.76494	0.971;0.999;0.998	P;D;P	0.66979	0.548;0.948;0.889	T	0.62291	-0.6885	10	0.59425	D	0.04	-4.3437	10.4618	0.44583	0.0:0.6173:0.3827:0.0	.	824;824;689	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	Q	689;824;824;824;618;824;689	ENSP00000428579:P824Q;ENSP00000447548:P824Q;ENSP00000369136:P824Q;ENSP00000428955:P618Q;ENSP00000447224:P824Q;ENSP00000340159:P689Q	ENSP00000340159:P689Q	P	+	2	0	NWD1	16744997	0.922000	0.31269	0.002000	0.10522	0.976000	0.68499	1.816000	0.38992	0.200000	0.20447	0.459000	0.35465	CCA	NWD1	-	NULL	ENSG00000188039		0.587	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	-	0	61	0	C	NM_001007525		16883997	1	tier1	-	no_errors	ENST00000379808	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.071	A	A	16883997	C	A	16883997	3	1	133	1	0	0	0	0	1	0	0	0	10820	594	21	3	2092	3	NWD1	19	16883997	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1301186	16883997	42244986	453	34375											
SIN3B	23309	genome.wustl.edu	37	chr19	16989100	16989100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggcgtggagagcgcctgcGacgtggactgccgcttcaag	6	7	17	11	5	1	1	1	0	0	1	1	4	1	2	2	3	3	1	2	3	1	1	rs372894104		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:16989100G>A	ENST00000248054.5	+	18	3082	c.3061G>A	c.(3061-3063)Gac>Aac	p.D1021N	SIN3B_ENST00000594235.1_3'UTR|SIN3B_ENST00000379803.1_Missense_Mutation_p.D1053N|SIN3B_ENST00000595541.1_Missense_Mutation_p.D611N					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCGCCTGCGACGTGGACTG	0.667																																																	0								G	ASN/ASP	1,4399		0,1,2199	23	18	20		3157	3.9	1	19		20	0,8592		0,0,4296	no	missense	SIN3B	NM_015260.2	23	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	1053/1163	16989100	1,12991	2200	4296	6496	SO:0001583	missense	0			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.3061G>A	19.37:g.16989100G>A	ENSP00000248054:p.Asp1021Asn			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.D1053N	ENST00000248054.5	37	c.3157		19	.	.	.	.	.	.	.	.	.	.	G	7.701	0.693152	0.15039	2.27E-4	0.0	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.40476	1.03;1.05	4.92	3.89	0.44902	.	0.151387	0.64402	N	0.000015	T	0.11793	0.0287	N	0.00879	-1.12	0.29263	N	0.871224	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.16689	-1.0394	10	0.14252	T	0.57	-28.618	4.8467	0.13517	0.8035:0.0:0.1965:0.0	.	611;1021;1053	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	N	1053;1021	ENSP00000369131:D1053N;ENSP00000248054:D1021N	ENSP00000248054:D1021N	D	+	1	0	SIN3B	16850100	1.000000	0.71417	0.957000	0.39632	0.728000	0.41692	7.227000	0.78070	0.894000	0.36317	0.561000	0.74099	GAC	SIN3B	-	NULL	ENSG00000127511		0.667	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1		0	48	0	G	NM_015260		16989100	1			no_errors	ENST00000379803	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.997	A	A	16989100	G	A	16989100	3	1	133	1	0	0	0	0	1	0	0	0	14371	1058	37	1	3231	1	SIN3B	19	16989100	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	105103	16989100	42139883	454	34376											
CPAMD8	27151	genome.wustl.edu	37	chr19	17088273	17088273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccagcaggcgaccaagggGgaccatgctgggggtcacgg	9	3	18	11	2	1	0	1	0	0	0	1	3	1	1	3	6	2	2	3	6	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:17088273G>T	ENST00000443236.1	-	15	1835	c.1804C>A	c.(1804-1806)Ccc>Acc	p.P602T	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	555						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						CGACCAAGGGGGACCATGCTG	0.582																																																	0													48	52	51					19																	17088273		1955	4143	6098	SO:0001583	missense	0			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.1804C>A	19.37:g.17088273G>T	ENSP00000402505:p.Pro602Thr		Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.P602T	ENST00000443236.1	37	c.1804	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	g	17.04	3.286826	0.59867	.	.	ENSG00000160111	ENST00000291440	.	.	.	2.62	2.62	0.31277	Alpha-2-macroglobulin, N-terminal 2 (1);	0.000000	0.64402	U	0.000008	D	0.83903	0.5355	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87720	0.2572	9	0.87932	D	0	.	13.4642	0.61243	0.0:0.0:1.0:0.0	.	555	Q8IZJ3	CPMD8_HUMAN	T	602	.	ENSP00000291440:P602T	P	-	1	0	CPAMD8	16949273	1.000000	0.71417	0.609000	0.28983	0.606000	0.37113	6.206000	0.72154	1.181000	0.42912	0.461000	0.40582	CCC	CPAMD8	-	pfam_A2M_N_2	ENSG00000160111		0.582	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	-	0	52	0	G	NM_015692		17088273	-1	tier1	-	no_errors	ENST00000443236	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	T	T	17088273	G	T	17088273	3	4	133	1	0	0	0	0	1	0	0	0	3802	1232	43	3	4106	3	CPAMD8	19	17088273	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	99173	17088273	42040710	455	34377											
C19orf62	29086	genome.wustl.edu	37	chr19	17379661	17379661	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccactgaagaggaggaggagGaagaggagcactcggcagag	14	2	18	7	1	0	4	0	1	0	3	1	9	0	9	1	6	1	2	1	6	2	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:17379661G>T	ENST00000359435.4	+	2	239	c.46G>T	c.(46-48)Gaa>Taa	p.E16*	BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000598188.1_Nonsense_Mutation_p.E16*|CTD-2278I10.6_ENST00000596542.1_5'UTR|BABAM1_ENST00000595632.1_Nonsense_Mutation_p.E16*|BABAM1_ENST00000447614.2_Nonsense_Mutation_p.E16*|BABAM1_ENST00000601043.1_Nonsense_Mutation_p.E16*	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	16					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						GGAGGAGGAGGAAGAGGAGCA	0.657																																																	0													11	15	14					19																	17379661		2028	4160	6188	SO:0001587	stop_gained	0			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.46G>T	19.37:g.17379661G>T	ENSP00000352408:p.Glu16*		A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Nonsense_Mutation	SNP	NULL	p.E16*	ENST00000359435.4	37	c.46	CCDS46012.1	19	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880875	0.91740	.	.	ENSG00000105393	ENST00000359435;ENST00000447614;ENST00000448635	.	.	.	4.56	3.51	0.40186	.	0.244420	0.29246	N	0.012720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-11.1345	12.7491	0.57298	0.0:0.1665:0.8335:0.0	.	.	.	.	X	16	.	ENSP00000352408:E16X	E	+	1	0	BABAM1	17240661	1.000000	0.71417	0.846000	0.33378	0.565000	0.35776	5.089000	0.64492	1.265000	0.44215	0.655000	0.94253	GAA	BABAM1	-	NULL	ENSG00000105393		0.657	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	BABAM1	HGNC	protein_coding	OTTHUMT00000463471.1	-	0	90	0	G	NM_014173		17379661	1	tier1	-	no_errors	ENST00000359435	ensembl	human	known	74_37	nonsense	10.38	95	11	SNP	1.000	T	T	17379661	G	T	17379661	4	4	133	1	0	0	0	0	0	1	0	0	1951	1175	41	3	48	3	C19orf62	19	17379661	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	291388	17379661	41749322	456	34378											
ZNF676	163223	genome.wustl.edu	37	chr19	22364172	22364173	+	Frame_Shift_Ins	INS	-	-	A																															aaagacgtttgcatatttgcINScacattgaaatactttgctc																										TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:22364172_22364173insA	ENST00000397121.2	-	3	663_664	c.346_347insT	c.(346-348)ggcfs	p.G116fs		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	116					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)				TGCATATTTGCCACATTGAAAT	0.327																																																	0																																										SO:0001589	frameshift_variant	0			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.346_347insT	19.37:g.22364172_22364173insA	ENSP00000380310:p.Gly116fs		A8MVX5	Frame_Shift_Ins	INS	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G116fs	ENST00000397121.2	37	c.347_346	CCDS42539.1	19																																																																																			ZNF676	-	NULL	ENSG00000196109		0.327	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1		0	126	0	0	NM_001001411		22364173	-1			no_errors	ENST00000397121	ensembl	human	known	74_37	frame_shift_ins	6.50	115	8	INS	0.000:0.003	A	A	22364173	-	A	22364172	7	5	133	1	0	1	1	0	0	0	0	0	18131	739	26	0	1423	0	ZNF676	19	22364172	Frame_Shift_Ins	INS	-	TCGA-LN-A9FP-01A-31D-A387-09	4984511	22364172	36764811	457	34379											
ZNF98	148198	genome.wustl.edu	37	chr19	22574497	22574497	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttgtagggtttctctcCagtatgaatcatcttatgtg	9	16	8	8	0	3	1	1	1	2	0	5	1	4	1	1	1	0	3	1	1	4	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:22574497C>A	ENST00000357774.5	-	4	1661	c.1540G>T	c.(1540-1542)Gga>Tga	p.G514*		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	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(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)				GGTTTCTCTCCAGTATGAATC	0.388																																																	0													58	51	53					19																	22574497		2177	4273	6450	SO:0001587	stop_gained	0				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.1540G>T	19.37:g.22574497C>A	ENSP00000350418:p.Gly514*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G514*	ENST00000357774.5	37	c.1540	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	15.10	2.731978	0.48939	.	.	ENSG00000197360	ENST00000357774	.	.	.	1.26	-0.0737	0.13734	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.3184	0.15868	0.0:0.6229:0.0:0.3771	.	.	.	.	X	514	.	ENSP00000350418:G514X	G	-	1	0	ZNF98	22366337	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	0.663000	0.25053	-0.157000	0.11059	0.289000	0.19496	GGA	ZNF98	-	pfscan_Znf_C2H2	ENSG00000197360		0.388	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	-	0	59	0	C	NM_001098626		22574497	-1	tier1	-	no_errors	ENST00000357774	ensembl	human	known	74_37	nonsense	11.00	89	11	SNP	0.053	A	A	22574497	C	A	22574497	4	1	133	1	0	0	0	0	0	1	0	0	18251	603	21	3	182	3	ZNF98	19	22574497	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	210325	22574497	36554486	458	34380											
ANKRD27	84079	genome.wustl.edu	37	chr19	33090932	33090932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtaaaaggctcatctGgtagatcatacagttttgag	11	14	10	6	0	4	2	2	1	2	1	4	2	4	2	0	2	1	4	0	2	4	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:33090932G>T	ENST00000306065.4	-	27	2950	c.2792C>A	c.(2791-2793)cCa>cAa	p.P931Q		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	931					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)					AGGCTCATCTGGTAGATCATA	0.338																																																	0													87	77	81					19																	33090932		2203	4300	6503	SO:0001583	missense	0			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.2792C>A	19.37:g.33090932G>T	ENSP00000304292:p.Pro931Gln		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.P931Q	ENST00000306065.4	37	c.2792	CCDS32986.1	19	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394962	0.42512	.	.	ENSG00000105186	ENST00000306065	T	0.62105	0.05	6.11	5.06	0.68205	.	0.333481	0.25765	N	0.028447	T	0.55513	0.1925	L	0.60455	1.87	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.51204	-0.8735	10	0.13470	T	0.59	-8.4767	12.8199	0.57688	0.0:0.0:0.8367:0.1633	.	931	Q96NW4	ANR27_HUMAN	Q	931	ENSP00000304292:P931Q	ENSP00000304292:P931Q	P	-	2	0	ANKRD27	37782772	1.000000	0.71417	0.691000	0.30163	0.990000	0.78478	3.378000	0.52432	1.565000	0.49641	0.655000	0.94253	CCA	ANKRD27	-	NULL	ENSG00000105186		0.338	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	-	0	43	0	G	NM_032139		33090932	-1	tier1	-	no_errors	ENST00000306065	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.889	T	T	33090932	G	T	33090932	3	4	133	1	0	0	0	0	1	0	0	0	655	1348	47	3	372	3	ANKRD27	19	33090932	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	10516435	33090932	26038051	459	34381											
ANKRD27	84079	genome.wustl.edu	37	chr19	33119650	33119650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagacgagtttctcacagtCatcgcagaagcagagagggt	13	7	13	8	2	2	3	2	0	1	3	4	6	2	3	0	1	1	3	0	1	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:33119650C>T	ENST00000306065.4	-	14	1473	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	439					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)					TTCTCACAGTCATCGCAGAAG	0.532																																																	0													201	164	176					19																	33119650		2203	4300	6503	SO:0001583	missense	0			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.1315G>A	19.37:g.33119650C>T	ENSP00000304292:p.Asp439Asn		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.D439N	ENST00000306065.4	37	c.1315	CCDS32986.1	19	.	.	.	.	.	.	.	.	.	.	C	7.892	0.732576	0.15507	.	.	ENSG00000105186	ENST00000306065	T	0.61859	0.07	5.13	3.87	0.44632	Ankyrin repeat-containing domain (1);	0.176065	0.39210	N	0.001437	T	0.30885	0.0779	N	0.11064	0.09	0.80722	D	1	B	0.13145	0.007	B	0.16289	0.015	T	0.15521	-1.0434	10	0.13108	T	0.6	-34.5503	6.5908	0.22646	0.0:0.7375:0.0:0.2625	.	439	Q96NW4	ANR27_HUMAN	N	439	ENSP00000304292:D439N	ENSP00000304292:D439N	D	-	1	0	ANKRD27	37811490	0.754000	0.28360	0.969000	0.41365	0.306000	0.27790	1.360000	0.34125	2.564000	0.86499	0.650000	0.86243	GAC	ANKRD27	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000105186		0.532	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	-	0	82	0	C	NM_032139		33119650	-1	tier1	-	no_errors	ENST00000306065	ensembl	human	known	74_37	missense	13.04	80	12	SNP	0.890	T	T	33119650	C	T	33119650	3	4	133	1	0	0	0	0	1	0	0	0	655	826	29	3	1901	3	ANKRD27	19	33119650	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	28718	33119650	26009333	460	34382											
LIN37	126393	genome.wustl.edu	37	chr19	36243135	36243135	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttgcagtgtctgctggaGaagagtcacatggacaggta	10	10	14	7	0	3	2	1	0	2	2	3	4	3	3	0	3	2	3	0	3	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:36243135G>A	ENST00000592984.1	-	0	1634				AC002398.9_ENST00000591613.2_3'UTR|LIN37_ENST00000301159.9_Silent_p.E31E|AC002398.12_ENST00000587767.1_RNA|AC002398.11_ENST00000591091.1_RNA			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)			GTCTGCTGGAGAAGAGTCACA	0.637																																																	0													31	35	34					19																	36243135		2045	4207	6252	SO:0001628	intergenic_variant	0			AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"Heat shock proteins / HSPB"	26511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 91"	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36243135G>A			O14551|Q6NVI3|Q96MG9	Silent	SNP	NULL	p.E31	ENST00000592984.1	37	c.93	CCDS12475.1	19																																																																																			LIN37	-	NULL	ENSG00000267796		0.637	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN37	HGNC	protein_coding	OTTHUMT00000109498.3	-	0	42	0	G	NM_144617		36243135	1	tier1	-	no_errors	ENST00000301159	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	A	A	36243135	G	A	36243135	1	1	133	0	1	0	0	0	0	0	0	0	8837	933	33	3		3	LIN37	19	36243135	IGR	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3123485	36243135	22885848	461	34383											
C19orf55	148137	genome.wustl.edu	37	chr19	36257856	36257856	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccctgccctccgcacgttGgtgagccgagggagggagga	7	5	16	13	3	0	1	0	1	0	0	1	5	1	4	5	4	2	2	5	4	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:36257856G>C	ENST00000544099.1	+	8	1020	c.957G>C	c.(955-957)ttG>ttC	p.L319F	C19orf55_ENST00000396908.4_Splice_Site_p.L319F|AC002398.13_ENST00000589397.1_RNA			Q2NL68	PRSR3_HUMAN		319										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)			TCCGCACGTTGGTGAGCCGAG	0.657																																																	0													9	13	12					19																	36257856		1896	4043	5939	SO:0001630	splice_region_variant	0																														ENST00000544099.1:c.957+1G>C	19.37:g.36257856G>C			Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	NULL	p.L319F	ENST00000544099.1	37	c.957		19	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750653	0.31046	.	.	ENSG00000167595	ENST00000396908	T	0.31247	1.5	4.0	1.71	0.24356	.	1.369980	0.05389	N	0.538615	T	0.17109	0.0411	N	0.22421	0.69	0.19775	N	0.999952	P	0.49447	0.924	B	0.34931	0.192	T	0.18053	-1.0349	10	0.49607	T	0.09	0.4762	4.0509	0.09795	0.1329:0.0:0.614:0.2531	.	319	E5RFB9	.	F	319	ENSP00000380116:L319F	ENSP00000380116:L319F	L	+	3	2	C19orf55	40949696	0.338000	0.24775	0.358000	0.25811	0.008000	0.06430	0.350000	0.20079	0.346000	0.23899	0.305000	0.20034	TTG	C19orf55	-	NULL	ENSG00000167595		0.657	C19orf55-001	KNOWN	basic	protein_coding	C19orf55	HGNC	protein_coding	OTTHUMT00000398160.2	-	0	70	0	G		Missense_Mutation	36257856	1	tier1	-	no_errors	ENST00000396908	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.399	C	C	36257856	G	C	36257856	5	2	133	1	0	0	0	0	0	0	1	0	1944	1362	47	5	987	5	C19orf55	19	36257856	Splice_Site	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	14721	36257856	22871127	462	34384											
ARHGAP33	115703	genome.wustl.edu	37	chr19	36269201	36269201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgctgtctccagaccGtgaagggcccagcctctctg	5	9	11	16	1	2	2	0	1	2	1	5	2	3	2	5	1	2	2	5	1	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:36269201G>T	ENST00000007510.4	+	4	353	c.209G>T	c.(208-210)cGt>cTt	p.R70L	ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R70L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	70	PX; atypical.				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						TCTCCAGACCGTGAAGGGCCC	0.597																																																	0													60	61	61					19																	36269201		2203	4300	6503	SO:0001583	missense	0			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.209G>T	19.37:g.36269201G>T	ENSP00000007510:p.Arg70Leu		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R70L	ENST00000007510.4	37	c.209		19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059285	0.76074	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000221905	T;T	0.11277	3.15;2.79	5.34	5.34	0.76211	.	0.088734	0.47852	D	0.000204	T	0.16854	0.0405	L	0.36672	1.1	0.41278	D	0.986893	D;D	0.56035	0.974;0.974	P;P	0.55545	0.778;0.778	T	0.00395	-1.1766	10	0.72032	D	0.01	.	10.1264	0.42652	0.0917:0.0:0.9083:0.0	.	88;70	O14559-12;O14559-11	.;.	L	70;70;88	ENSP00000007510:R70L;ENSP00000320038:R70L	ENSP00000007510:R70L	R	+	2	0	ARHGAP33	40961041	0.997000	0.39634	0.988000	0.46212	0.871000	0.50021	3.365000	0.52335	2.483000	0.83821	0.655000	0.94253	CGT	ARHGAP33	-	NULL	ENSG00000004777		0.597	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		-	0	57	0	G	NM_052948		36269201	1	tier1	-	no_errors	ENST00000007510	ensembl	human	known	74_37	missense	6.25	58	4	SNP	0.899	T	T	36269201	G	T	36269201	3	4	133	1	0	0	0	0	1	0	0	0	882	1145	40	2	223	2	ARHGAP33	19	36269201	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	11345	36269201	22859782	463	34385											
WDR62	284403	genome.wustl.edu	37	chr19	36573985	36573985	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctgctgaaggtcgtgtaCgtggagaatgacatccagca	11	8	12	10	2	0	3	0	2	0	1	2	4	1	3	2	2	3	3	2	2	3	1	rs151063285		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:36573985C>G	ENST00000270301.7	+	11	1392	c.1392C>G	c.(1390-1392)taC>taG	p.Y464*	WDR62_ENST00000401500.2_Nonsense_Mutation_p.Y464*			O43379	WDR62_HUMAN	WD repeat domain 62	464					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)			AGGTCGTGTACGTGGAGAATG	0.592																																																	0													56	43	47					19																	36573985		2203	4300	6503	SO:0001587	stop_gained	0			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.1392C>G	19.37:g.36573985C>G	ENSP00000270301:p.Tyr464*		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y464*	ENST00000270301.7	37	c.1392	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.347307	0.95807	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	.	.	.	5.71	-2.61	0.06171	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.7688	9.5611	0.39369	0.0:0.5313:0.1311:0.3376	.	.	.	.	X	464	.	ENSP00000270301:Y464X	Y	+	3	2	WDR62	41265825	0.014000	0.17966	0.882000	0.34594	0.990000	0.78478	-1.169000	0.03120	-0.712000	0.04988	-0.294000	0.09567	TAC	WDR62	-	NULL	ENSG00000075702		0.592	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	-	0	37	0	C	NM_015671		36573985	1	tier1	-	no_errors	ENST00000401500	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	0.673	G	G	36573985	C	G	36573985	4	3	133	1	0	0	0	0	0	1	0	0	17362	547	19	5	1434	5	WDR62	19	36573985	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	304784	36573985	22554998	464	34386											
ZNF529	57711	genome.wustl.edu	37	chr19	37038208	37038208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttatagggtttttcacCagtatgaatcctctgatgtc	10	16	7	8	0	2	2	1	2	1	0	4	2	3	2	2	1	0	2	2	1	4	6			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:37038208C>T	ENST00000591340.1	-	5	1410	c.1252G>A	c.(1252-1254)Ggt>Agt	p.G418S	ZNF529_ENST00000334116.7_Missense_Mutation_p.G313S	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	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(1)	1	Esophageal squamous(110;0.198)					GGTTTTTCACCAGTATGAATC	0.368																																																	0													102	113	110					19																	37038208		2144	4281	6425	SO:0001583	missense	0			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.1252G>A	19.37:g.37038208C>T	ENSP00000465578:p.Gly418Ser		K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G418S	ENST00000591340.1	37	c.1252	CCDS54256.1	19	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516134	0.85495	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.19	3.19	0.36642	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69043	0.3067	L	0.52364	1.645	0.36122	D	0.845515	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.77360	-0.2617	8	0.87932	D	0	.	13.2329	0.59953	0.0:1.0:0.0:0.0	.	313;385	Q6P280-2;Q6P280	.;ZN529_HUMAN	S	418	.	ENSP00000334695:G418S	G	-	1	0	ZNF529	41730048	0.060000	0.20803	1.000000	0.80357	0.991000	0.79684	3.301000	0.51842	1.606000	0.50161	0.591000	0.81541	GGT	ZNF529	-	pfscan_Znf_C2H2	ENSG00000186020		0.368	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF529	HGNC	protein_coding	OTTHUMT00000452730.1		0	54	0	C	NM_020951		37038208	-1			no_errors	ENST00000591340	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	37038208	C	T	37038208	3	4	133	1	0	0	0	0	1	0	0	0	18018	594	21	3	443	3	ZNF529	19	37038208	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	464223	37038208	22090775	465	34387											
RASGRP4	115727	genome.wustl.edu	37	chr19	38905515	38905515	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcagcagatcctcattGgcgctgcagggtggatgctg	7	9	16	9	1	1	1	1	0	0	1	2	2	2	2	1	4	4	5	1	4	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:38905515G>T	ENST00000587738.1	-	9	1273	c.1203C>A	c.(1201-1203)gcC>gcA	p.A401A	RASGRP4_ENST00000433821.2_Intron|RASGRP4_ENST00000293062.9_Silent_p.A304A|RASGRP4_ENST00000587753.1_Silent_p.A332A|RASGRP4_ENST00000454404.2_Silent_p.A367A|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000586305.1_Silent_p.A387A			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	401	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)			GATCCTCATTGGCGCTGCAGG	0.647																																																	0													16	20	19					19																	38905515		2005	4157	6162	SO:0001819	synonymous_variant	0			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.1203C>A	19.37:g.38905515G>T			A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.A401	ENST00000587738.1	37	c.1203	CCDS46068.1	19																																																																																			RASGRP4	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000171777		0.647	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	-	0	90	0	G	NM_170604		38905515	-1	tier1	-	no_errors	ENST00000587738	ensembl	human	known	74_37	silent	10.00	81	9	SNP	1.000	T	T	38905515	G	T	38905515	2	4	133	1	0	0	0	0	0	0	0	1	13122	1335	47	3		3	RASGRP4	19	38905515	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1867307	38905515	20223468	466	34388											
FCGBP	8857	genome.wustl.edu	37	chr19	40357626	40357626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acacagagaccacgggtggcCcagcagttccgggcttcagc	9	5	13	14	2	1	1	1	0	0	1	2	2	2	1	3	3	2	3	3	3	0	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:40357626C>A	ENST00000221347.6	-	34	15694	c.15687G>T	c.(15685-15687)tgG>tgT	p.W5229C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5229						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)			CACGGGTGGCCCAGCAGTTCC	0.617																																																	0													90	70	77					19																	40357626		2203	4300	6503	SO:0001583	missense	0			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.15687G>T	19.37:g.40357626C>A	ENSP00000221347:p.Trp5229Cys		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.W5229C	ENST00000221347.6	37	c.15687	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	9.402	1.078151	0.20227	.	.	ENSG00000090920	ENST00000221347	T	0.18502	2.21	4.45	3.39	0.38822	Follistatin-like, N-terminal (1);von Willebrand factor, type D domain (1);	1.468840	0.04340	U	0.353881	T	0.38453	0.1041	L	0.57536	1.79	0.25222	N	0.989893	D	0.65815	0.995	D	0.69142	0.962	T	0.08330	-1.0727	10	0.38643	T	0.18	.	9.4132	0.38505	0.2123:0.7877:0.0:0.0	.	5229	Q9Y6R7	FCGBP_HUMAN	C	5229	ENSP00000221347:W5229C	ENSP00000221347:W5229C	W	-	3	0	FCGBP	45049466	0.000000	0.05858	0.305000	0.25099	0.045000	0.14185	0.336000	0.19823	1.052000	0.40392	0.655000	0.94253	TGG	FCGBP	-	smart_VWC_out,smart_Fol_N,smart_VWF_type-D	ENSG00000090920		0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	41	0	C	NM_003890		40357626	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.254	A	A	40357626	C	A	40357626	3	1	133	1	0	0	0	0	1	0	0	0	5800	624	22	3	542	3	FCGBP	19	40357626	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1452111	40357626	18771357	467	34389											
ATP1A3	478	genome.wustl.edu	37	chr19	42492163	42492163	+	Silent	SNP	C	C	A	0	0	0	1	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	cagaggatagccccgatccaCagcaggatggagaagccccc	12	3	12	14	1	0	2	0	0	0	2	1	6	1	4	5	3	3	1	5	3	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:42492163C>A	ENST00000302102.5	-	4	432	c.282G>T	c.(280-282)ctG>ctT	p.L94L	ATP1A3_ENST00000543770.1_Silent_p.L105L|ATP1A3_ENST00000545399.1_Silent_p.L107L|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000602133.1_Silent_p.L64L	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	94					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						CCCCGATCCACAGCAGGATGG	0.652																																																	0													102	112	108					19																	42492163		2203	4300	6503	SO:0001819	synonymous_variant	0				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.282G>T	19.37:g.42492163C>A			B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.L94	ENST00000302102.5	37	c.282	CCDS12594.1	19																																																																																			ATP1A3	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105409		0.652	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	-	0	85	0	C	NM_152296		42492163	-1	tier1	-	no_errors	ENST00000302102	ensembl	human	known	74_37	silent	11.30	102	13	SNP	1.000	A	A	42492163	C	A	42492163	2	1	133	1	0	0	0	0	0	0	0	1	1131	465	17	3		3	ATP1A3	19	42492163	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2134537	42492163	16636820	468	34390											
BCL3	602	genome.wustl.edu	37	chr19	45262823	45262823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctttgctggggtcctccGaggccctggccggccggtgc	1	8	16	16	3	0	0	0	0	0	0	2	1	2	0	6	6	2	1	6	6	0	1	rs373245726		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:45262823G>A	ENST00000164227.5	+	9	1560	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	439	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)			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)				GGGGTCCTCCGAGGCCCTGGC	0.692			T	IGH@	CLL																																			Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	0								G	GLN/ARG	0,4406		0,0,2203	48	58	54		1316	4	1	19		54	1,8595	1.2+/-3.3	0,1,4297	no	missense	BCL3	NM_005178.4	43	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	439/455	45262823	1,13001	2203	4298	6501	SO:0001583	missense	0			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.1316G>A	19.37:g.45262823G>A	ENSP00000164227:p.Arg439Gln			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R439Q	ENST00000164227.5	37	c.1316	CCDS12642.2	19	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334366	0.60853	0.0	1.16E-4	ENSG00000069399	ENST00000164227	T	0.39056	1.1	3.97	3.97	0.46021	.	0.415530	0.17875	N	0.159055	T	0.46600	0.1401	L	0.27053	0.805	0.28057	N	0.933112	D	0.69078	0.997	D	0.67725	0.953	T	0.30621	-0.9972	10	0.87932	D	0	-1.8135	8.9013	0.35497	0.0:0.0:0.7774:0.2226	.	439	P20749	BCL3_HUMAN	Q	439	ENSP00000164227:R439Q	ENSP00000164227:R439Q	R	+	2	0	BCL3	49954663	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.237000	0.32695	2.022000	0.59522	0.491000	0.48974	CGA	BCL3	-	NULL	ENSG00000069399		0.692	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL3	HGNC	protein_coding	OTTHUMT00000322976.1	-	0	85	0	G	NM_005178		45262823	1	tier1	-	no_errors	ENST00000164227	ensembl	human	known	74_37	missense	7.14	117	9	SNP	1.000	A	A	45262823	G	A	45262823	3	1	133	1	0	0	0	0	1	0	0	0	1376	1058	37	1	1350	1	BCL3	19	45262823	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2770660	45262823	13866160	469	34391											
PTGIR	5739	genome.wustl.edu	37	chr19	47124858	47124858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatggggttgaaggcgtaGaagcggaaggcaaggaggtc	12	5	20	4	2	0	2	0	1	0	1	1	5	0	5	0	8	1	3	0	8	5	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:47124858G>A	ENST00000291294.2	-	3	973	c.840C>T	c.(838-840)ttC>ttT	p.F280F	PTGIR_ENST00000597185.1_Silent_p.F9F|PTGIR_ENST00000598865.1_Silent_p.F68F|PTGIR_ENST00000594275.1_Silent_p.F37F	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	280					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	TGAAGGCGTAGAAGCGGAAGG	0.632																																																	0													49	47	48					19																	47124858		2200	4295	6495	SO:0001819	synonymous_variant	0				CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.840C>T	19.37:g.47124858G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt	p.F280	ENST00000291294.2	37	c.840	CCDS12686.1	19																																																																																			PTGIR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000160013		0.632	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGIR	HGNC	protein_coding	OTTHUMT00000466581.1	-	0	59	0	G			47124858	-1	tier1	-	no_errors	ENST00000291294	ensembl	human	known	74_37	silent	5.68	83	5	SNP	0.954	A	A	47124858	G	A	47124858	2	1	133	1	0	0	0	0	0	0	0	1	12794	933	33	3		3	PTGIR	19	47124858	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1862035	47124858	12004125	470	34392											
SLC8A2	6543	genome.wustl.edu	37	chr19	47969259	47969259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcggaggagcccagggcCatgagcgtgaggttggacac	8	5	19	9	2	0	2	0	2	0	0	0	5	0	5	2	6	3	1	2	6	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:47969259C>A	ENST00000236877.6	-	2	797	c.402G>T	c.(400-402)atG>atT	p.M134I	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	134					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGCCCAGGGCCATGAGCGTGA	0.612																																																	0													83	55	64					19																	47969259		2203	4300	6503	SO:0001583	missense	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.402G>T	19.37:g.47969259C>A	ENSP00000236877:p.Met134Ile		B4DYQ9	Missense_Mutation	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.M134I	ENST00000236877.6	37	c.402	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371984	0.61624	.	.	ENSG00000118160	ENST00000236877	T	0.62639	0.01	4.25	4.25	0.50352	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	H	0.96777	3.88	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.90784	0.4681	10	0.87932	D	0	.	15.6004	0.76620	0.0:1.0:0.0:0.0	.	134	Q9UPR5	NAC2_HUMAN	I	134	ENSP00000236877:M134I	ENSP00000236877:M134I	M	-	3	0	SLC8A2	52661071	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.597000	0.82733	2.210000	0.71456	0.462000	0.41574	ATG	SLC8A2	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex	ENSG00000118160		0.612	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1		0	34	0	C			47969259	-1			no_errors	ENST00000236877	ensembl	human	known	74_37	missense	5.41	34	2	SNP	1.000	A	A	47969259	C	A	47969259	3	1	133	1	0	0	0	0	1	0	0	0	14752	594	21	3	2399	3	SLC8A2	19	47969259	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	844401	47969259	11159724	471	34393											
CABP5	56344	genome.wustl.edu	37	chr19	48537601	48537601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccagggtgatctcccCatctccattcgtgtcaaact	8	11	6	16	1	3	1	1	1	2	0	7	1	4	1	5	1	1	0	5	1	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:48537601C>G	ENST00000293255.2	-	5	497	c.367G>C	c.(367-369)Ggg>Cgg	p.G123R		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	123	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GTGATCTCCCCATCTCCATTC	0.517																																																	0													57	54	55					19																	48537601		2203	4300	6503	SO:0001583	missense	0			AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"EF-hand domain containing"	13714	protein-coding gene	gene with protein product		607315	"calcium binding protein 3"	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.367G>C	19.37:g.48537601C>G	ENSP00000293255:p.Gly123Arg		A0AUY4	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.G123R	ENST00000293255.2	37	c.367	CCDS12709.1	19	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816314	0.70912	.	.	ENSG00000105507	ENST00000293255	T	0.27402	1.67	5.01	5.01	0.66863	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79834	-0.1636	10	0.87932	D	0	-27.1476	16.1949	0.82021	0.0:1.0:0.0:0.0	.	123	Q9NP86	CABP5_HUMAN	R	123	ENSP00000293255:G123R	ENSP00000293255:G123R	G	-	1	0	CABP5	53229413	1.000000	0.71417	0.970000	0.41538	0.481000	0.33189	7.063000	0.76714	2.509000	0.84616	0.561000	0.74099	GGG	CABP5	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000105507		0.517	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABP5	HGNC	protein_coding	OTTHUMT00000465212.1	-	0	70	0	C	NM_019855		48537601	-1	tier1	-	no_errors	ENST00000293255	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	G	G	48537601	C	G	48537601	3	3	133	1	0	0	0	0	1	0	0	0	2541	594	21	5	162	5	CABP5	19	48537601	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	568342	48537601	10591382	472	34394											
CEACAM18	729767	genome.wustl.edu	37	chr19	51986279	51986279	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgtctctacagatgggcccGactatgtgctgctgaggagc	7	10	13	11	1	1	2	0	1	1	1	2	4	1	3	1	2	4	2	1	2	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:51986279G>C	ENST00000396477.4	+	4	703	c.682G>C	c.(682-684)Gac>Cac	p.D228H	CEACAM18_ENST00000451626.1_Missense_Mutation_p.D289H	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	228	Ig-like C2-type.							p.D289H(2)|p.D228H(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATGGGCCCGACTATGTGCT	0.552																																																	4	Substitution - Missense(4)	lung(4)											160	153	155					19																	51986279		1965	4158	6123	SO:0001583	missense	0					19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.682G>C	19.37:g.51986279G>C	ENSP00000379738:p.Asp228His		C9JN24	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D289H	ENST00000396477.4	37	c.865		19	.	.	.	.	.	.	.	.	.	.	.	11.69	1.712590	0.30322	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.07327	3.2	2.76	0.386	0.16254	Immunoglobulin-like (1);	.	.	.	.	T	0.18800	0.0451	M	0.63428	1.95	0.09310	N	1	D	0.60160	0.987	P	0.61201	0.885	T	0.07693	-1.0759	9	0.72032	D	0.01	-13.5954	7.2542	0.26166	0.0:0.0:0.4815:0.5185	.	289	A8MTB9	CEA18_HUMAN	H	289;228;228	ENSP00000402203:D289H	ENSP00000379738:D228H	D	+	1	0	CEACAM18	56678091	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.400000	0.20932	0.193000	0.20303	0.456000	0.33151	GAC	CEACAM18	-	pfscan_Ig-like_dom	ENSG00000213822		0.552	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2		0	52	0	G			51986279	1			no_errors	ENST00000451626	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.001	C	C	51986279	G	C	51986279	3	2	133	1	0	0	0	0	1	0	0	0	3196	1058	37	5	883	5	CEACAM18	19	51986279	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	3448678	51986279	7142704	473	34395											
BIRC8	112401	genome.wustl.edu	37	chr19	53792962	53792962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	aaatcaataaccgcgctgcaCatgggacatctgtcaactgc	13	8	8	12	2	3	0	2	0	1	0	3	1	3	1	1	1	4	2	1	1	4	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:53792962C>A	ENST00000426466.1	-	1	1913	c.666G>T	c.(664-666)atG>atT	p.M222I		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	222					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CCGCGCTGCACATGGGACATC	0.393																																																	0													172	167	169					19																	53792962		2203	4300	6503	SO:0001583	missense	0			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.666G>T	19.37:g.53792962C>A	ENSP00000412957:p.Met222Ile		Q6IPY1|Q96RW5	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.M222I	ENST00000426466.1	37	c.666	CCDS12863.1	19	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.329991	0.01298	.	.	ENSG00000163098	ENST00000426466	T	0.74947	-0.89	0.502	0.502	0.16932	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	.	.	.	.	T	0.36193	0.0958	N	0.01019	-1.045	0.27591	N	0.949267	B	0.23185	0.081	B	0.26094	0.066	T	0.45877	-0.9231	9	0.02654	T	1	-9.4018	4.3473	0.11139	1.0E-4:0.5653:0.4346:0.0	.	222	Q96P09	BIRC8_HUMAN	I	222	ENSP00000412957:M222I	ENSP00000412957:M222I	M	-	3	0	BIRC8	58484774	1.000000	0.71417	0.703000	0.30354	0.189000	0.23516	1.152000	0.31663	0.578000	0.29487	0.420000	0.28162	ATG	BIRC8	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000163098		0.393	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	HGNC	protein_coding	OTTHUMT00000464357.1	-	0	44	0	C	NM_033341		53792962	-1	tier1	-	no_errors	ENST00000426466	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A	A	53792962	C	A	53792962	3	1	133	1	0	0	0	0	1	0	0	0	1442	478	17	3	48	3	BIRC8	19	53792962	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1806683	53792962	5336021	474	34396											
ZNF765	91661	genome.wustl.edu	37	chr19	53912375	53912375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactggagagaaactacacGtgtaatgagtgtggtaagac	15	9	12	5	1	0	3	0	1	0	2	0	5	0	4	0	2	3	2	0	2	5	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:53912375G>A	ENST00000396408.3	+	4	1684	c.1567G>A	c.(1567-1569)Gtg>Atg	p.V523M	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	523					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(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GAAACTACACGTGTAATGAGT	0.378																																																	0													28	29	29					19																	53912375		2171	4290	6461	SO:0001583	missense	0			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1567G>A	19.37:g.53912375G>A	ENSP00000379689:p.Val523Met		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V523M	ENST00000396408.3	37	c.1567	CCDS46171.1	19	.	.	.	.	.	.	.	.	.	.	-	5.151	0.213398	0.09757	.	.	ENSG00000196417	ENST00000396408	T	0.09255	3.0	1.27	-0.176	0.13311	.	.	.	.	.	T	0.06188	0.0160	L	0.27053	0.805	0.09310	N	1	B	0.25007	0.116	B	0.18561	0.022	T	0.42361	-0.9456	8	.	.	.	.	4.9749	0.14135	0.7897:0.0:0.2103:0.0	.	523	Q7L2R6	ZN765_HUMAN	M	523	ENSP00000379689:V523M	.	V	+	1	0	ZNF765	58604187	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-1.442000	0.02407	-0.344000	0.08338	0.297000	0.19635	GTG	ZNF765	-	NULL	ENSG00000196417		0.378	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF765	HGNC	protein_coding	OTTHUMT00000371603.1	-	0	79	0	G	NM_138372		53912375	1	tier1	-	no_errors	ENST00000396408	ensembl	human	known	74_37	missense	5.66	100	6	SNP	0.004	A	A	53912375	G	A	53912375	3	1	133	1	0	0	0	0	1	0	0	0	18187	1145	40	1	1577	1	ZNF765	19	53912375	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	119413	53912375	5216608	475	34397											
ZNF761	388561	genome.wustl.edu	37	chr19	53959386	53959386	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcccttacctgccatcgtaGacttcattctggagagaaac	11	11	7	12	1	2	2	1	0	1	2	4	4	3	3	3	1	3	1	3	1	3	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:53959386G>C	ENST00000454407.1	+	0	2078							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)	p.R488T(1)		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)		TGCCATCGTAGACTTCATTCT	0.448																																																	1	Substitution - Missense(1)	lung(1)											101	100	100					19																	53959386		2203	4300	6503			0			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959386G>C			Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-	ENSG00000160336		0.448	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		-	0	144	0	G	NM_001008401		53959386	1	tier1	-	no_errors	ENST00000334095	ensembl	human	known	74_37	rna	5.13	148	8	SNP	0.204	C	C	53959386	G	C	53959386	1	2	133	0	1	0	0	0	0	0	0	0	18184	942	33	5		5	ZNF761	19	53959386	RNA	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	47011	53959386	5169597	476	34398											
LILRA6	79168	genome.wustl.edu	37	chr19	54744789	54744789	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatagcacctgtactggccCccgtgggaggggctcacagg	7	6	14	14	1	1	0	1	0	0	0	1	1	1	1	4	5	2	3	4	5	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:54744789C>A	ENST00000396365.2	-	5	912	c.873G>T	c.(871-873)ggG>ggT	p.G291G	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.G291G|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Silent_p.G291G|LILRA6_ENST00000419410.2_Silent_p.G291G	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	291	Ig-like C2-type 1.				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)		TGTACTGGCCCCCGTGGGAGG	0.682																																																	0													54	66	62					19																	54744789		2203	4300	6503	SO:0001819	synonymous_variant	0			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.873G>T	19.37:g.54744789C>A				Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G291	ENST00000396365.2	37	c.873	CCDS42610.1	19																																																																																			LILRA6	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000244482		0.682	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRA6	HGNC	protein_coding	OTTHUMT00000313725.1	-	0	264	0	C	NM_024318		54744789	-1	tier1	-	no_errors	ENST00000419410	ensembl	human	known	74_37	silent	5.09	261	14	SNP	0.068	A	A	54744789	C	A	54744789	2	1	133	1	0	0	0	0	0	0	0	1	8818	610	22	3		3	LILRA6	19	54744789	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	785403	54744789	4384194	477	34399											
LAIR1	3903	genome.wustl.edu	37	chr19	54872553	54872553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctccaggtagtcactctGctcagaccatttagggggct	8	10	11	12	0	3	1	2	0	1	1	4	1	4	1	2	3	2	4	2	3	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:54872553G>T	ENST00000391742.2	-	3	486	c.334C>A	c.(334-336)Cag>Aag	p.Q112K	LAIR1_ENST00000474878.1_Missense_Mutation_p.Q111K|LAIR1_ENST00000348231.4_Missense_Mutation_p.Q112K|LAIR1_ENST00000391743.3_Missense_Mutation_p.Q94K|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000434277.2_Missense_Mutation_p.Q111K|LAIR1_ENST00000313038.6_Missense_Mutation_p.Q105K			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	112	Ig-like C2-type.				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)		TAGTCACTCTGCTCAGACCAT	0.567																																																	0													126	120	122					19																	54872553		2203	4300	6503	SO:0001583	missense	0			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.334C>A	19.37:g.54872553G>T	ENSP00000375622:p.Gln112Lys			Missense_Mutation	SNP	smart_Ig_sub	p.Q112K	ENST00000391742.2	37	c.334	CCDS12891.1	19	.	.	.	.	.	.	.	.	.	.	.	6.017	0.371477	0.11409	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000444687	T;T;T;T;T;T;T	0.47177	2.62;2.62;2.62;2.62;2.62;2.62;0.85	3.01	1.95	0.26073	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.890590	0.02591	N	0.099999	T	0.28863	0.0716	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.14012	0.007;0.004;0.001;0.001;0.0;0.009	B;B;B;B;B;B	0.17979	0.002;0.012;0.0;0.001;0.0;0.02	T	0.19353	-1.0308	10	0.16420	T	0.52	.	7.4607	0.27294	0.0:0.0:0.7426:0.2574	.	112;94;111;111;112;112	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	K	94;112;111;112;105;111;2	ENSP00000375623:Q94K;ENSP00000375622:Q112K;ENSP00000391003:Q111K;ENSP00000301193:Q112K;ENSP00000319204:Q105K;ENSP00000418998:Q111K;ENSP00000392722:Q2K	ENSP00000319204:Q105K	Q	-	1	0	LAIR1	59564365	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.547000	0.23299	0.824000	0.34613	0.644000	0.83932	CAG	LAIR1	-	smart_Ig_sub	ENSG00000167613		0.567	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR1	HGNC	protein_coding	OTTHUMT00000140506.1	-	0	59	0	G			54872553	-1	tier1	-	no_errors	ENST00000391742	ensembl	human	known	74_37	missense	11.11	56	7	SNP	0.001	T	T	54872553	G	T	54872553	3	4	133	1	0	0	0	0	1	0	0	0	8630	1328	46	3	561	3	LAIR1	19	54872553	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	127764	54872553	4256430	478	34400											
LENG8	114823	genome.wustl.edu	37	chr19	54965711	54965711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatcccccacatggggctCacacgctgaacagtggccct	10	6	9	16	1	1	1	1	1	0	0	2	1	2	1	3	3	1	2	3	3	2	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:54965711C>T	ENST00000326764.5	+	6	1008	c.529C>T	c.(529-531)Cac>Tac	p.H177Y	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	140										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)		ACATGGGGCTCACACGCTGAA	0.682																																																	0													24	25	25					19																	54965711		2203	4300	6503	SO:0001583	missense	0			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.529C>T	19.37:g.54965711C>T	ENSP00000318374:p.His177Tyr		B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.H177Y	ENST00000326764.5	37	c.529	CCDS12894.1	19	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746361	0.30955	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.44083	1.5;0.93;1.47;1.48	5.23	5.23	0.72850	.	0.209202	0.38778	N	0.001576	T	0.48295	0.1492	L	0.50333	1.59	0.21697	N	0.999586	B;B	0.34103	0.437;0.053	B;B	0.43018	0.405;0.008	T	0.49670	-0.8915	10	0.56958	D	0.05	-15.3419	16.6815	0.85292	0.0:1.0:0.0:0.0	.	177;140	Q96PV6-2;F8W9Q9	.;.	Y	177;140;177;140;177	ENSP00000318374:H177Y;ENSP00000399507:H177Y;ENSP00000365709:H140Y;ENSP00000388053:H177Y	ENSP00000301196:H140Y	H	+	1	0	LENG8	59657523	0.188000	0.23250	0.023000	0.16930	0.095000	0.18619	3.713000	0.54882	2.608000	0.88229	0.655000	0.94253	CAC	LENG8	-	NULL	ENSG00000167615		0.682	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140523.2	-	0	142	0	C	NM_052925		54965711	1	tier1	-	no_errors	ENST00000326764	ensembl	human	known	74_37	missense	9.03	131	13	SNP	0.011	T	T	54965711	C	T	54965711	3	4	133	1	0	0	0	0	1	0	0	0	8752	826	29	3	547	3	LENG8	19	54965711	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	93158	54965711	4163272	479	34401											
GP6	51206	genome.wustl.edu	37	chr19	55526303	55526303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggtcatgaacataaccCgcggctgtgaacatcctgtc	10	8	10	13	3	1	2	1	2	0	0	3	2	2	2	2	2	4	1	2	2	3	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:55526303C>A	ENST00000417454.1	-	8	1033	c.1006G>T	c.(1006-1008)Ggg>Tgg	p.G336W	GP6_ENST00000333884.2_Missense_Mutation_p.G318W|GP6_ENST00000310373.3_Missense_Mutation_p.R337L|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	336					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)	p.R337L(1)		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)		GAACATAACCCGCGGCTGTGA	0.637																																																	1	Substitution - Missense(1)	lung(1)											44	49	47					19																	55526303		2143	4232	6375	SO:0001583	missense	0			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.1006G>T	19.37:g.55526303C>A	ENSP00000394922:p.Gly336Trp		Q9HCN7|Q9UIF2	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2	p.R337L	ENST00000417454.1	37	c.1010	CCDS46184.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.59|12.59	1.983427|1.983427	0.35036|0.35036	.|.	.|.	ENSG00000088053|ENSG00000088053	ENST00000417454;ENST00000333884|ENST00000310373	T;T|T	0.00532|0.00561	6.83;6.75|6.59	2.65|2.65	0.335|0.335	0.15953|0.15953	.|.	.|.	.|.	.|.	.|.	T|T	0.00384|0.00384	0.0012|0.0012	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;D|P	0.89917|0.36048	1.0;1.0|0.534	D;D|B	0.74023|0.28139	0.98;0.982|0.086	T|T	0.48080|0.48080	-0.9066|-0.9066	8|8	0.87932|0.87932	D|D	0|0	.|.	3.6946|3.6946	0.08360|0.08360	0.0:0.5851:0.2599:0.1549|0.0:0.5851:0.2599:0.1549	.|.	318;336|337	Q9HCN6-2;Q9HCN6|Q9HCN6-3	.;GPVI_HUMAN|.	W|L	336;318|337	ENSP00000394922:G336W;ENSP00000334552:G318W|ENSP00000308782:R337L	ENSP00000334552:G318W|ENSP00000308782:R337L	G|R	-|-	1|2	0|0	GP6|GP6	60218115|60218115	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.079000|-0.079000	0.11357|0.11357	0.155000|0.155000	0.19261|0.19261	0.561000|0.561000	0.74099|0.74099	GGG|CGG	GP6	-	NULL	ENSG00000088053		0.637	GP6-001	KNOWN	basic|CCDS	protein_coding	GP6	HGNC	protein_coding	OTTHUMT00000357006.1	-	0	62	0	C			55526303	-1	tier1	-	no_errors	ENST00000310373	ensembl	human	known	74_37	missense	8.64	74	7	SNP	0.000	A	A	55526303	C	A	55526303	3	1	133	1	0	0	0	0	1	0	0	0	6610	652	23	2	856	2	GP6	19	55526303	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	560592	55526303	3602680	480	34402											
DUXA	503835	genome.wustl.edu	37	chr19	57670600	57670600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctaaagtctcagcttctGgtcttttctggaatccgtgc	7	16	8	10	1	5	0	1	0	5	0	7	1	6	1	1	2	2	1	1	2	3	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:57670600G>T	ENST00000554048.2	-	3	226	c.227C>A	c.(226-228)cCa>cAa	p.P76Q		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	76					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)		CTCAGCTTCTGGTCTTTTCTG	0.428																																																	0													109	100	103					19																	57670600		2203	4300	6503	SO:0001583	missense	0				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.227C>A	19.37:g.57670600G>T	ENSP00000452398:p.Pro76Gln			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.P76Q	ENST00000554048.2	37	c.227	CCDS33126.1	19	.	.	.	.	.	.	.	.	.	.	G	3.584	-0.085014	0.07097	.	.	ENSG00000258873	ENST00000554048	D	0.92199	-2.99	2.19	1.12	0.20585	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	2.097570	0.03027	N	0.151546	D	0.88392	0.6424	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	P	0.60949	0.881	T	0.80913	-0.1170	10	0.15066	T	0.55	-0.427	4.7299	0.12959	0.1867:0.0:0.8133:0.0	.	76	A6NLW8	DUXA_HUMAN	Q	76	ENSP00000452398:P76Q	ENSP00000365415:P76Q	P	-	2	0	DUXA	62362412	0.000000	0.05858	0.008000	0.14137	0.011000	0.07611	0.422000	0.21296	0.481000	0.27557	0.561000	0.74099	CCA	DUXA	-	superfamily_Homeodomain-like,smart_Homeobox_dom	ENSG00000258873		0.428	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	DUXA	HGNC	protein_coding	OTTHUMT00000410075.3	-	0	67	0	G	NM_001012729		57670600	-1	tier1	-	no_errors	ENST00000554048	ensembl	human	known	74_37	missense	13.24	59	9	SNP	0.008	T	T	57670600	G	T	57670600	3	4	133	1	0	0	0	0	1	0	0	0	4848	1348	47	3	403	3	DUXA	19	57670600	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2144297	57670600	1458383	481	34403											
ZNF17	7565	genome.wustl.edu	37	chr19	57932722	57932722	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgggaaagtctttagatAcaactccagcctcattaaac	14	11	7	9	0	2	1	1	0	1	1	3	2	3	2	2	1	4	0	2	1	6	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr19:57932722A>G	ENST00000601808.1	+	3	2075	c.1862A>G	c.(1861-1863)tAc>tGc	p.Y621C	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.Y623C	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	621					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)		GTCTTTAGATACAACTCCAGC	0.403																																					Melanoma(149;1637 1853 29914 42869 44988)												0													51	55	53					19																	57932722		2198	4298	6496	SO:0001583	missense	0			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.1862A>G	19.37:g.57932722A>G	ENSP00000471905:p.Tyr621Cys		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y621C	ENST00000601808.1	37	c.1862	CCDS42636.1	19	.	.	.	.	.	.	.	.	.	.	A	9.112	1.006807	0.19199	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.57	-1.03	0.10102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18087	0.0434	N	0.12853	0.265	0.09310	N	1	B;B	0.20052	0.041;0.002	B;B	0.20384	0.029;0.003	T	0.19353	-1.0308	8	0.44086	T	0.13	.	5.3477	0.16018	0.3436:0.184:0.4724:0.0	.	623;621	P17021-2;P17021	.;ZNF17_HUMAN	C	621	.	ENSP00000302455:Y621C	Y	+	2	0	ZNF17	62624534	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.481000	0.06552	-0.527000	0.06374	0.460000	0.39030	TAC	ZNF17	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186272		0.403	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1	-	0	78	0	A	NM_006959		57932722	1	tier1	-	no_errors	ENST00000601808	ensembl	human	known	74_37	missense	7.48	99	8	SNP	0.000	G	G	57932722	A	G	57932722	3	3	133	1	0	0	0	0	1	0	0	0	17791	391	14	4	1872	4	ZNF17	19	57932722	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	262122	57932722	1196261	482	34404											
TMC2	117532	genome.wustl.edu	37	chr20	2605001	2605001	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagatctttgctttcctCgccaatccaggcctgatcat	8	12	8	13	1	2	2	1	1	1	1	5	2	4	2	4	2	1	2	4	2	2	2	rs555212967		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:2605001C>A	ENST00000358864.1	+	17	2280	c.2265C>A	c.(2263-2265)ctC>ctA	p.L755L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	755					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						TTGCTTTCCTCGCCAATCCAG	0.493																																																	0													173	129	144					20																	2605001		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2265C>A	20.37:g.2605001C>A			Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	pfam_TMC	p.L755	ENST00000358864.1	37	c.2265	CCDS13029.2	20																																																																																			TMC2	-	NULL	ENSG00000149488		0.493	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	-	0	71	0	C			2605001	1	tier1	-	no_errors	ENST00000358864	ensembl	human	known	74_37	silent	6.54	100	7	SNP	0.063	A	A	2605001	C	A	2605001	2	1	133	1	0	0	0	0	0	0	0	1	16032	871	31	2		2	TMC2	20	2605001	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		2605001	60420519	483	34405											
ANKRD5	63926	genome.wustl.edu	37	chr20	10030541	10030541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtcattcctgagtacGcgtttccacgccggcaggat	6	12	11	12	4	2	1	1	1	1	0	4	2	4	2	3	2	1	3	3	2	1	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:10030541G>T	ENST00000378380.3	+	6	1653	c.1324G>T	c.(1324-1326)Gcg>Tcg	p.A442S	ANKEF1_ENST00000378392.1_Missense_Mutation_p.A442S|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	442							calcium ion binding (GO:0005509)										TCCTGAGTACGCGTTTCCACG	0.463																																																	0													80	77	78					20																	10030541		2203	4300	6503	SO:0001583	missense	0			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1324G>T	20.37:g.10030541G>T	ENSP00000367631:p.Ala442Ser		B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt	p.A442S	ENST00000378380.3	37	c.1324	CCDS13108.1	20	.	.	.	.	.	.	.	.	.	.	G	0.300	-0.974324	0.02215	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.65916	-0.18;-0.18	5.87	4.87	0.63330	Ankyrin repeat-containing domain (1);	1.224580	0.05073	N	0.481993	T	0.54334	0.1852	L	0.34521	1.04	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.28586	-1.0039	10	0.14252	T	0.57	-6.8847	13.9895	0.64357	0.0:0.0:0.6954:0.3046	.	442	Q9NU02	ANKR5_HUMAN	S	442	ENSP00000367644:A442S;ENSP00000367631:A442S	ENSP00000367631:A442S	A	+	1	0	ANKRD5	9978541	0.033000	0.19621	0.008000	0.14137	0.007000	0.05969	2.439000	0.44846	2.941000	0.99782	0.655000	0.94253	GCG	ANKEF1	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000132623		0.463	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKEF1	HGNC	protein_coding	OTTHUMT00000077968.2		0	42	0	G	NM_022096		10030541	1			no_errors	ENST00000378380	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.000	T	T	10030541	G	T	10030541	3	4	133	1	0	0	0	0	1	0	0	0	676	1087	38	2	1342	2	ANKRD5	20	10030541	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	7425540	10030541	52994979	484	34406											
C20orf79	140856	genome.wustl.edu	37	chr20	18794792	18794792	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacactgtctttacaatcccGgagtctgtctttatggagct	8	14	9	10	1	3	0	0	0	3	0	4	3	4	2	1	2	2	1	1	2	3	4	rs368734818		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:18794792G>T	ENST00000377428.2	+	1	423	c.333G>T	c.(331-333)ccG>ccT	p.P111P	C20orf78_ENST00000278779.4_Intron|C20orf78_ENST00000463425.1_5'Flank	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	111	SCP2.							p.P111P(1)									TTACAATCCCGGAGTCTGTCT	0.512																																																	1	Substitution - coding silent(1)	large_intestine(1)											57	62	60					20																	18794792		2203	4300	6503	SO:0001819	synonymous_variant	0			AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"sterol carrier protein 2-like protein"		"chromosome 20 open reading frame 79"	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.333G>T	20.37:g.18794792G>T			Q548A4	Silent	SNP	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	p.P111	ENST00000377428.2	37	c.333	CCDS13139.1	20																																																																																			SCP2D1	-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	ENSG00000132631		0.512	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCP2D1	HGNC	protein_coding	OTTHUMT00000078193.1	-	0	56	0	G	NM_178483		18794792	1	tier1	-	no_errors	ENST00000377428	ensembl	human	known	74_37	silent	8.05	79	7	SNP	0.065	T	T	18794792	G	T	18794792	2	4	133	1	0	0	0	0	0	0	0	1	2126	1103	39	2		2	C20orf79	20	18794792	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	8764251	18794792	44230728	485	34407											
TTLL9	164395	genome.wustl.edu	37	chr20	30497560	30497560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccggaagaactacatGgtgaagaacctgaagcggtt	13	7	12	9	2	0	5	0	3	0	2	0	6	0	6	2	3	4	1	2	3	6	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:30497560G>T	ENST00000375938.4	+	6	592	c.339G>T	c.(337-339)atG>atT	p.M113I	TTLL9_ENST00000375921.2_Missense_Mutation_p.M63I|TTLL9_ENST00000375934.4_Missense_Mutation_p.M95I|TTLL9_ENST00000535842.1_Missense_Mutation_p.M113I|TTLL9_ENST00000310998.4_Missense_Mutation_p.M63I|TTLL9_ENST00000375922.4_Missense_Mutation_p.M63I			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	113	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAACTACATGGTGAAGAACC	0.607																																																	0													34	38	37					20																	30497560		2081	4225	6306	SO:0001583	missense	0			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"Tubulin tyrosine ligase-like family"	16118	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 125"	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.339G>T	20.37:g.30497560G>T	ENSP00000365105:p.Met113Ile		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.M113I	ENST00000375938.4	37	c.339	CCDS42863.1	20	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058061	0.55325	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43	5.21	5.21	0.72293	.	0.168917	0.64402	D	0.000005	T	0.13586	0.0329	M	0.84773	2.715	0.48236	D	0.999616	B	0.17465	0.022	B	0.28991	0.097	T	0.01925	-1.1246	10	0.66056	D	0.02	.	9.5875	0.39526	0.101:0.0:0.899:0.0	.	113	Q3SXZ7	TTLL9_HUMAN	I	113;113;63;63;95;63	ENSP00000365105:M113I;ENSP00000442515:M113I;ENSP00000308980:M63I;ENSP00000365086:M63I;ENSP00000365100:M95I;ENSP00000365088:M63I	ENSP00000308980:M63I	M	+	3	0	TTLL9	29961221	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.643000	0.61390	2.592000	0.87571	0.561000	0.74099	ATG	TTLL9	-	pfam_TTL/TTLL_fam	ENSG00000131044		0.607	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL9	HGNC	protein_coding		-	0	51	0	G	NM_001008409		30497560	1	tier1	-	no_errors	ENST00000375938	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	30497560	G	T	30497560	3	4	133	1	0	0	0	0	1	0	0	0	16783	1348	47	3	357	3	TTLL9	20	30497560	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	11702768	30497560	32527960	486	34408											
XKR7	343702	genome.wustl.edu	37	chr20	30585020	30585020	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacccccaccccacctgtCttccaggtgcggcctggctt	4	8	11	18	1	1	0	0	0	1	0	2	1	2	1	7	4	1	1	7	4	0	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:30585020C>A	ENST00000562532.2	+	3	1674	c.1500C>A	c.(1498-1500)gtC>gtA	p.V500V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	500						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)			CCCCACCTGTCTTCCAGGTGC	0.677																																																	0													30	35	33					20																	30585020		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1500C>A	20.37:g.30585020C>A			Q9NUG5	Silent	SNP	pfam_Transport_prot_XK	p.V500	ENST00000562532.2	37	c.1500	CCDS33459.1	20																																																																																			XKR7	-	NULL	ENSG00000260903		0.677	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3	-	0	43	0	C	NM_001011718		30585020	1	tier1	-	no_errors	ENST00000562532	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	A	A	30585020	C	A	30585020	2	1	133	1	0	0	0	0	0	0	0	1	17485	900	32	3		3	XKR7	20	30585020	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	87460	30585020	32440500	487	34409											
POFUT1	23509	genome.wustl.edu	37	chr20	30818726	30818726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcggcccccctcacgatGactatgtgcctgcctgacct	7	8	9	17	2	1	2	1	2	0	0	1	3	1	2	6	1	3	0	6	1	1	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:30818726G>T	ENST00000375749.3	+	6	902	c.840G>T	c.(838-840)atG>atT	p.M280I	POFUT1_ENST00000539210.1_Missense_Mutation_p.M69I|POFUT1_ENST00000486717.1_3'UTR	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	280					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)			CCCTCACGATGACTATGTGCC	0.617																																																	0													95	86	89					20																	30818726		2203	4300	6503	SO:0001583	missense	0			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.840G>T	20.37:g.30818726G>T	ENSP00000364902:p.Met280Ile		A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	pfam_GDP-Fuc_O-FucTrfase	p.M280I	ENST00000375749.3	37	c.840	CCDS13198.1	20	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229325	0.39399	.	.	ENSG00000101346	ENST00000375749;ENST00000539210	T;T	0.28895	1.59;1.59	5.19	3.21	0.36854	.	0.542116	0.21731	N	0.069973	T	0.27241	0.0668	L	0.60455	1.87	0.33677	D	0.611626	B	0.06786	0.001	B	0.15052	0.012	T	0.30031	-0.9992	10	0.17832	T	0.49	-11.5451	10.027	0.42076	0.0725:0.0:0.7895:0.138	.	280	Q9H488	OFUT1_HUMAN	I	280;69	ENSP00000364902:M280I;ENSP00000446154:M69I	ENSP00000364902:M280I	M	+	3	0	POFUT1	30282387	1.000000	0.71417	0.995000	0.50966	0.855000	0.48748	4.624000	0.61254	0.566000	0.29273	0.585000	0.79938	ATG	POFUT1	-	pfam_GDP-Fuc_O-FucTrfase	ENSG00000101346		0.617	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT1	HGNC	protein_coding	OTTHUMT00000078613.1	-	0	44	0	G	NM_015352		30818726	1	tier1	-	no_errors	ENST00000375749	ensembl	human	known	74_37	missense	10.67	67	8	SNP	1.000	T	T	30818726	G	T	30818726	3	4	133	1	0	0	0	0	1	0	0	0	12222	1290	45	3	909	3	POFUT1	20	30818726	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	233706	30818726	32206794	488	34410											
BPIL1	80341	genome.wustl.edu	37	chr20	31606541	31606541	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagggctccatggccacCgtgggcctctcccagcagct	6	6	12	17	2	1	0	0	0	1	0	3	1	2	0	6	3	2	3	6	3	0	0	rs373815604		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:31606541C>A	ENST00000170150.3	+	9	963	c.768C>A	c.(766-768)acC>acA	p.T256T		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	256						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CCATGGCCACCGTGGGCCTCT	0.637																																																	0													87	86	86					20																	31606541		2203	4300	6503	SO:0001819	synonymous_variant	0			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.768C>A	20.37:g.31606541C>A			Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.T256	ENST00000170150.3	37	c.768	CCDS13210.1	20																																																																																			BPIFB2	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000078898		0.637	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	HGNC	protein_coding	OTTHUMT00000078652.2	-	0	27	0	C	NM_025227		31606541	1	tier1	-	no_errors	ENST00000170150	ensembl	human	known	74_37	silent	20.00	32	8	SNP	0.017	A	A	31606541	C	A	31606541	2	1	133	1	0	0	0	0	0	0	0	1	1495	639	23	2		2	BPIL1	20	31606541	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	787815	31606541	31418979	489	34411											
C20orf70	140683	genome.wustl.edu	37	chr20	31767424	31767424	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcagatatgtccactgatCcgcatcttcatccactccct	8	13	5	15	1	3	2	2	1	1	1	7	2	7	2	4	0	0	1	4	0	1	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:31767424C>A	ENST00000253362.2	+	7	806	c.660C>A	c.(658-660)atC>atA	p.I220I	BPIFA2_ENST00000354932.5_Silent_p.I220I			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	220						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GTCCACTGATCCGCATCTTCA	0.517																																																	0													177	163	168					20																	31767424		2203	4300	6503	SO:0001819	synonymous_variant	0			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"BPI fold containing"	16203	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 70"	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.660C>A	20.37:g.31767424C>A			Q9BQQ0	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.I220	ENST00000253362.2	37	c.660	CCDS13214.1	20																																																																																			BPIFA2	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000131050		0.517	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA2	HGNC	protein_coding	OTTHUMT00000257117.1	-	0	59	0	C	NM_080574		31767424	1	tier1	-	no_errors	ENST00000253362	ensembl	human	known	74_37	silent	14.29	59	10	SNP	0.001	A	A	31767424	C	A	31767424	2	1	133	1	0	0	0	0	0	0	0	1	2123	845	30	3		3	C20orf70	20	31767424	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	160883	31767424	31258096	490	34412											
CEP250	11190	genome.wustl.edu	37	chr20	34055253	34055253	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggaagaatggatgggcggGagccggcccagctgctgctg	7	6	18	10	2	0	1	0	0	0	1	0	4	0	4	2	5	4	3	2	5	2	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:34055253G>T	ENST00000397527.1	+	9	1444	c.724G>T	c.(724-726)Gag>Tag	p.E242*	CEP250_ENST00000397524.1_Nonsense_Mutation_p.E242*|CEP250_ENST00000342580.4_Nonsense_Mutation_p.E242*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	242					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)			GGATGGGCGGGAGCCGGCCCA	0.572																																																	0													72	78	76					20																	34055253		2203	4300	6503	SO:0001587	stop_gained	0			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.724G>T	20.37:g.34055253G>T	ENSP00000380661:p.Glu242*		E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.E242*	ENST00000397527.1	37	c.724	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728288	0.48833	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	.	.	.	5.56	5.56	0.83823	.	2.167190	0.01848	N	0.035716	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.3704	0.83355	0.0:0.0:1.0:0.0	.	.	.	.	X	242	.	ENSP00000341541:E242X	E	+	1	0	CEP250	33518667	1.000000	0.71417	0.768000	0.31515	0.157000	0.22087	5.390000	0.66261	2.890000	0.99128	0.655000	0.94253	GAG	CEP250	-	NULL	ENSG00000126001		0.572	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	-	0	42	0	G	NM_007186		34055253	1	tier1	-	no_errors	ENST00000397527	ensembl	human	known	74_37	nonsense	14.00	43	7	SNP	0.863	T	T	34055253	G	T	34055253	4	4	133	1	0	0	0	0	0	1	0	0	3259	1175	41	3	746	3	CEP250	20	34055253	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2287829	34055253	28970267	491	34413											
C20orf132	140699	genome.wustl.edu	37	chr20	35749434	35749434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtctttgtagcctgcatgGcaaagctaaatcaaacgaaa	15	9	9	8	1	2	0	1	0	1	0	2	2	2	0	1	1	4	4	1	1	6	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:35749434G>A	ENST00000400441.3	-	16	1981	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	MROH8_ENST00000217333.8_Missense_Mutation_p.A490V|MROH8_ENST00000441008.2_Missense_Mutation_p.A647V			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	AGCCTGCATGGCAAAGCTAAA	0.463																																																	0													75	69	71					20																	35749434		1954	4145	6099	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1982C>T	20.37:g.35749434G>A	ENSP00000383291:p.Ala661Val		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A661V	ENST00000400441.3	37	c.1982		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.21|17.21	3.331936|3.331936	0.60853|0.60853	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811	T;T;T|.	0.04015|.	3.97;4.23;3.73|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.084814|.	0.51477|.	D|.	0.000095|.	T|T	0.58878|0.58878	0.2153|0.2153	L|L	0.36672|0.36672	1.1|1.1	0.44555|0.44555	D|D	0.997514|0.997514	D;D|.	0.67145|.	0.992;0.996|.	D;P|.	0.64410|.	0.925;0.906|.	T|T	0.52601|0.52601	-0.8554|-0.8554	10|5	0.20046|.	T|.	0.44|.	-12.2183|-12.2183	15.6512|15.6512	0.77095|0.77095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	661;495|.	E7ETR9;Q9H579-2|.	.;.|.	V|S	647;661;490|688	ENSP00000392144:A647V;ENSP00000383291:A661V;ENSP00000217333:A490V|.	ENSP00000217333:A490V|.	A|P	-|-	2|1	0|0	C20orf132|C20orf132	35182848|35182848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.555000|4.555000	0.60767|0.60767	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GCC|CCA	MROH8	-	superfamily_ARM-type_fold	ENSG00000101353		0.463	MROH8-202	KNOWN	basic|appris_principal	protein_coding	MROH8	HGNC	protein_coding		-	0	88	0	G	NM_152503		35749434	-1	tier1	-	no_errors	ENST00000400441	ensembl	human	known	74_37	missense	15.79	80	15	SNP	1.000	A	A	35749434	G	A	35749434	3	1	133	1	0	0	0	0	1	0	0	0	2093	1203	42	3	1182	3	C20orf132	20	35749434	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1694181	35749434	27276086	492	34414											
PPP1R16B	26051	genome.wustl.edu	37	chr20	37531341	37531341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaatcaacgagatgcGggtggctcctgagcagcaga	14	5	14	8	2	1	4	1	1	0	3	2	6	2	4	1	2	4	3	1	2	3	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:37531341G>T	ENST00000299824.1	+	6	791	c.602G>T	c.(601-603)cGg>cTg	p.R201L	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R201L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	201					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)				AACGAGATGCGGGTGGCTCCT	0.587																																																	0													124	105	111					20																	37531341		2203	4300	6503	SO:0001583	missense	0			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.602G>T	20.37:g.37531341G>T	ENSP00000299824:p.Arg201Leu		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R201L	ENST00000299824.1	37	c.602	CCDS13309.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.222451|5.222451	0.95139|0.95139	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.52295	.|0.67;0.67	4.42|4.42	4.42|4.42	0.53409|0.53409	.|Ankyrin repeat-containing domain (3);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.69124|0.69124	0.3076|0.3076	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.73142|0.73142	-0.4076|-0.4076	5|10	.|0.59425	.|D	.|0.04	.|.	17.5774|17.5774	0.87955|0.87955	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|201;201	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	W|L	144|201	.|ENSP00000299824:R201L;ENSP00000362428:R201L	.|ENSP00000299824:R201L	G|R	+|+	1|2	0|0	PPP1R16B|PPP1R16B	36964755|36964755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	9.345000|9.345000	0.97053|0.97053	2.440000|2.440000	0.82611|0.82611	0.655000|0.655000	0.94253|0.94253	GGG|CGG	PPP1R16B	-	superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom	ENSG00000101445		0.587	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2	-	0	41	0	G	NM_015568		37531341	1	tier1	-	no_errors	ENST00000299824	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	T	T	37531341	G	T	37531341	3	4	133	1	0	0	0	0	1	0	0	0	12408	1116	39	2	620	2	PPP1R16B	20	37531341	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1781907	37531341	25494179	493	34415											
IFT52	51098	genome.wustl.edu	37	chr20	42242550	42242550	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgaaaccagcagtggcGgttctgtctacaggttctgt	8	12	12	9	1	4	1	1	1	3	0	4	1	4	1	1	3	3	3	1	3	2	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:42242550G>C	ENST00000373030.3	+	7	676	c.546G>C	c.(544-546)gcG>gcC	p.A182A	IFT52_ENST00000373039.4_Silent_p.A182A	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	182					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)	p.A182A(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCAGTGGCGGTTCTGTCTA	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											97	92	94					20																	42242550		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.546G>C	20.37:g.42242550G>C			B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	pfam_ABC_transp_unknown	p.A182	ENST00000373030.3	37	c.546	CCDS33470.1	20																																																																																			IFT52	-	NULL	ENSG00000101052		0.393	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT52	HGNC	protein_coding	OTTHUMT00000079317.1	-	0	124	0	G	NM_016004		42242550	1	tier1	-	no_errors	ENST00000373030	ensembl	human	known	74_37	silent	5.88	160	10	SNP	0.998	C	C	42242550	G	C	42242550	2	2	133	1	0	0	0	0	0	0	0	1	7588	1103	39	5		5	IFT52	20	42242550	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	4711209	42242550	20782970	494	34416											
RBPJL	11317	genome.wustl.edu	37	chr20	43942722	43942722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaccgcgagagggctacGttcgctatggctccctggtg	5	9	13	14	4	0	1	0	0	0	1	3	2	2	1	3	3	1	4	3	3	2	3	rs568551533		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:43942722G>T	ENST00000343694.3	+	8	877	c.805G>T	c.(805-807)Gtt>Ttt	p.V269F	RBPJL_ENST00000372741.3_Missense_Mutation_p.V269F|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.V269F	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	269					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGAGGGCTACGTTCGCTATGG	0.607																																																	0													121	119	119					20																	43942722		2203	4300	6503	SO:0001583	missense	0			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.805G>T	20.37:g.43942722G>T	ENSP00000341243:p.Val269Phe		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.V269F	ENST00000343694.3	37	c.805	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887401	0.52014	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.36878	1.23;1.23;1.23	5.25	3.3	0.37823	Beta-trefoil (2);	0.166790	0.40385	N	0.001120	T	0.35189	0.0923	L	0.39898	1.24	0.37078	D	0.89883	P;P	0.47841	0.901;0.81	P;P	0.49999	0.628;0.574	T	0.36432	-0.9748	10	0.87932	D	0	-25.5547	6.375	0.21503	0.3074:0.0:0.6926:0.0	.	269;269	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	F	269	ENSP00000361828:V269F;ENSP00000361826:V269F;ENSP00000341243:V269F	ENSP00000341243:V269F	V	+	1	0	RBPJL	43376136	1.000000	0.71417	0.995000	0.50966	0.397000	0.30659	2.457000	0.45005	0.766000	0.33244	0.563000	0.77884	GTT	RBPJL	-	pfam_Beta-trefoil_DNA-bd_dom,superfamily_Beta-trefoil_DNA-bd_dom	ENSG00000124232		0.607	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1		0	57	0	G	NM_014276		43942722	1			no_errors	ENST00000343694	ensembl	human	known	74_37	missense	8.57	64	6	SNP	1.000	T	T	43942722	G	T	43942722	3	4	133	1	0	0	0	0	1	0	0	0	13207	1145	40	2	835	2	RBPJL	20	43942722	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1700172	43942722	19082798	495	34417											
CDH22	64405	genome.wustl.edu	37	chr20	44856180	44856180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtgaagtggtgctcgcCgtccagcacgctgtacacca	8	7	12	14	4	0	1	0	1	0	0	2	1	1	1	3	2	3	4	3	2	2	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:44856180C>A	ENST00000372262.3	-	3	1037	c.637G>T	c.(637-639)Ggc>Tgc	p.G213C	CDH22_ENST00000537909.1_Missense_Mutation_p.G213C	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	213	Cadherin 2. {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)				TGGTGCTCGCCGTCCAGCACG	0.736																																																	0													27	23	24					20																	44856180		2203	4299	6502	SO:0001583	missense	0			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.637G>T	20.37:g.44856180C>A	ENSP00000361336:p.Gly213Cys		B9EGK7|O43205	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G213C	ENST00000372262.3	37	c.637	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.222380	0.95139	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.57752	0.38;0.38	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81805	0.4900	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87565	0.2474	10	0.87932	D	0	.	17.7901	0.88550	0.0:1.0:0.0:0.0	.	213	Q9UJ99	CAD22_HUMAN	C	213	ENSP00000361336:G213C;ENSP00000437790:G213C	ENSP00000361336:G213C	G	-	1	0	CDH22	44289587	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.651000	0.83577	2.667000	0.90743	0.563000	0.77884	GGC	CDH22	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000149654		0.736	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1	-	0	88	0	C	NM_021248		44856180	-1	tier1	-	no_errors	ENST00000372262	ensembl	human	known	74_37	missense	9.92	109	12	SNP	1.000	A	A	44856180	C	A	44856180	3	1	133	1	0	0	0	0	1	0	0	0	3114	652	23	2	1885	2	CDH22	20	44856180	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	913458	44856180	18169340	496	34418											
SULF2	55959	genome.wustl.edu	37	chr20	46313304	46313304	+	Silent	SNP	C	C	A	0	0	0	1	1	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	cagtgtttgtccgggttgggCgcgtagttgtagctcggcgt	3	13	17	8	5	0	0	0	0	0	0	2	0	1	0	1	3	1	6	1	3	2	5	rs536732621		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:46313304C>A	ENST00000359930.4	-	6	1610	c.759G>T	c.(757-759)gcG>gcT	p.A253A	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Silent_p.A253A|SULF2_ENST00000484875.1_Silent_p.A253A|SULF2_ENST00000467815.1_Silent_p.A253A	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	253					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						CCGGGTTGGGCGCGTAGTTGT	0.632																																																	0													159	109	126					20																	46313304		2203	4300	6503	SO:0001819	synonymous_variant	0			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.759G>T	20.37:g.46313304C>A			E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.A253	ENST00000359930.4	37	c.759	CCDS13408.1	20																																																																																			SULF2	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000196562		0.632	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULF2	HGNC	protein_coding	OTTHUMT00000079606.1	-	0	60	0	C	NM_018837		46313304	-1	tier1	-	no_errors	ENST00000359930	ensembl	human	known	74_37	silent	5.43	87	5	SNP	0.961	A	A	46313304	C	A	46313304	2	1	133	1	0	0	0	0	0	0	0	1	15418	755	27	2		2	SULF2	20	46313304	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1457124	46313304	16712216	497	34419											
TSHZ2	128553	genome.wustl.edu	37	chr20	51872528	51872528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcataaaagaaaaggccGgcagtccaactggaatcctc	14	8	9	10	1	0	1	0	0	0	1	3	2	2	2	3	3	2	2	3	3	6	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:51872528G>T	ENST00000371497.5	+	2	3418	c.2531G>T	c.(2530-2532)cGg>cTg	p.R844L	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R841L|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R841L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	844					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)			AGAAAAGGCCGGCAGTCCAAC	0.522																																																	0													51	53	52					20																	51872528		2203	4300	6503	SO:0001583	missense	0			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.2531G>T	20.37:g.51872528G>T	ENSP00000360552:p.Arg844Leu		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.R844L	ENST00000371497.5	37	c.2531	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461494	0.84317	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.30714	1.53;1.52	5.52	5.52	0.82312	Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.52749	-0.8534	10	0.87932	D	0	-5.6145	19.4542	0.94880	0.0:0.0:1.0:0.0	.	844	Q9NRE2	TSH2_HUMAN	L	844;841;370	ENSP00000360552:R844L;ENSP00000333114:R841L	ENSP00000333114:R841L	R	+	2	0	TSHZ2	51305935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.470000	0.97683	2.592000	0.87571	0.643000	0.83706	CGG	TSHZ2	-	superfamily_Homeodomain-like,smart_Homeobox_dom	ENSG00000182463		0.522	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	-	0	67	0	G	NM_173485		51872528	1	tier1	-	no_errors	ENST00000371497	ensembl	human	known	74_37	missense	14.49	59	10	SNP	1.000	T	T	51872528	G	T	51872528	3	4	133	1	0	0	0	0	1	0	0	0	16672	1116	39	2	2537	2	TSHZ2	20	51872528	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5559224	51872528	11152992	498	34420											
PHACTR3	116154	genome.wustl.edu	37	chr20	58330273	58330273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcaaccccgatggaggacCccgatctgtacagagtgaac	11	7	11	12	2	1	2	0	1	1	1	1	6	1	4	4	2	4	2	4	2	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:58330273C>T	ENST00000371015.1	+	4	862	c.395C>T	c.(394-396)cCc>cTc	p.P132L	PHACTR3_ENST00000541461.1_Missense_Mutation_p.P91L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P91L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P129L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P91L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P91L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P91L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	132						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GATGGAGGACCCCGATCTGTA	0.587																																																	0													63	59	60					20																	58330273		2203	4300	6503	SO:0001583	missense	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.395C>T	20.37:g.58330273C>T	ENSP00000360054:p.Pro132Leu		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.P132L	ENST00000371015.1	37	c.395	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	C	0.576	-0.838991	0.02692	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.29142	1.99;2.03;1.58;2.01;2.01;2.01;1.58	3.8	2.82	0.32997	.	0.687552	0.14295	N	0.328685	T	0.15565	0.0375	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24823	0.069;0.02;0.112	B;B;B	0.25140	0.055;0.016;0.058	T	0.28586	-1.0039	10	0.08599	T	0.76	-5.2295	9.1039	0.36685	0.2198:0.7802:0.0:0.0	.	91;132;129	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	L	129;132;91;91;91;91;91	ENSP00000353002:P129L;ENSP00000360054:P132L;ENSP00000379001:P91L;ENSP00000442483:P91L;ENSP00000347866:P91L;ENSP00000378998:P91L;ENSP00000354555:P91L	ENSP00000347866:P91L	P	+	2	0	PHACTR3	57763668	0.003000	0.15002	0.009000	0.14445	0.012000	0.07955	0.702000	0.25631	0.863000	0.35553	0.591000	0.81541	CCC	PHACTR3	-	NULL	ENSG00000087495		0.587	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	-	0	63	0	C	NM_080672		58330273	1	tier1	-	no_errors	ENST00000371015	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.016	T	T	58330273	C	T	58330273	3	4	133	1	0	0	0	0	1	0	0	0	11850	623	22	3	409	3	PHACTR3	20	58330273	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	6457745	58330273	4695247	499	34421											
CDH4	1002	genome.wustl.edu	37	chr20	60499458	60499458	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaacggccagatcaccacGgcggcagtgctggaccgtga	10	4	13	14	4	1	2	1	1	0	1	1	3	1	3	4	4	2	2	4	4	1	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:60499458G>T	ENST00000360469.5	+	11	1783	c.1695G>T	c.(1693-1695)acG>acT	p.T565T	CDH4_ENST00000543233.1_Silent_p.T491T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	565	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGATCACCACGGCGGCAGTGC	0.612																																																	0													115	89	98					20																	60499458		2203	4300	6503	SO:0001819	synonymous_variant	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1695G>T	20.37:g.60499458G>T			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.T565	ENST00000360469.5	37	c.1695	CCDS13488.1	20																																																																																			CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0	53	0	G	NM_001794		60499458	1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	silent	6.98	80	6	SNP	0.047	T	T	60499458	G	T	60499458	2	4	133	1	0	0	0	0	0	0	0	1	3119	1103	39	2		2	CDH4	20	60499458	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	2169185	60499458	2526062	500	34422											
C20orf166	128826	genome.wustl.edu	37	chr20	61167653	61167653	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttcctgtaggtCagccctgaaatgtccattac	7	19	6	9	0	1	1	1	1	0	0	3	1	3	1	3	1	2	1	3	1	3	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:61167653C>A	ENST00000370527.3	+	4	902	c.123C>A	c.(121-123)gtC>gtA	p.V41V	C20orf166_ENST00000370524.2_Silent_p.V23V|C20orf166_ENST00000370523.1_Silent_p.V23V	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)			TCCTGTAGGTCAGCCCTGAAA	0.493																																																	0													30	30	30					20																	61167653		1860	4100	5960	SO:0001819	synonymous_variant	0			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.123C>A	20.37:g.61167653C>A				Silent	SNP	NULL	p.V41	ENST00000370527.3	37	c.123	CCDS46627.1	20																																																																																			C20orf166	-	NULL	ENSG00000174407		0.493	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf166	HGNC	protein_coding	OTTHUMT00000109262.1	-	0	61	0	C	NM_178463		61167653	1	tier1	-	no_errors	ENST00000370527	ensembl	human	known	74_37	silent	8.86	72	7	SNP	0.000	A	A	61167653	C	A	61167653	2	1	133	1	0	0	0	0	0	0	0	1	2102	813	29	3		3	C20orf166	20	61167653	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	668195	61167653	1857867	501	34423											
NKAIN4	128414	genome.wustl.edu	37	chr20	61879034	61879034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatggggggccccgaggcCcactgctggcacctcctcat	5	6	13	17	1	1	0	1	0	0	0	2	1	2	0	6	5	1	2	6	5	0	0			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:61879034C>G	ENST00000370316.3	-	4	456	c.367G>C	c.(367-369)Ggc>Cgc	p.G123R	NKAIN4_ENST00000370313.1_Missense_Mutation_p.G61R|NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Missense_Mutation_p.G61R	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					GCCCCGAGGCCCACTGCTGGC	0.667																																																	0													17	17	17					20																	61879034		1909	3598	5507	SO:0001583	missense	0			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.367G>C	20.37:g.61879034C>G	ENSP00000359340:p.Gly123Arg		Q4VXQ6|Q9BQU8|Q9BQU9	Missense_Mutation	SNP	pfam_Na/K-Atpase_Interacting	p.G123R	ENST00000370316.3	37	c.367	CCDS13514.1	20	.	.	.	.	.	.	.	.	.	.	C	1.316	-0.600697	0.03744	.	.	ENSG00000101198	ENST00000370313;ENST00000370316;ENST00000370307;ENST00000370317	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	3.48	1.19	0.21007	.	0.064971	0.64402	U	0.000009	T	0.23171	0.0560	L	0.55103	1.725	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.17258	-1.0375	10	0.10111	T	0.7	-17.7757	8.5914	0.33690	0.0:0.795:0.0:0.205	.	61;123	A6NNM2;Q8IVV8	.;NKAI4_HUMAN	R	61;123;61;53	ENSP00000359336:G61R;ENSP00000359340:G123R;ENSP00000359330:G61R;ENSP00000359341:G53R	ENSP00000359330:G61R	G	-	1	0	NKAIN4	61349479	0.007000	0.16637	0.002000	0.10522	0.003000	0.03518	0.734000	0.26101	-0.061000	0.13110	0.313000	0.20887	GGC	NKAIN4	-	pfam_Na/K-Atpase_Interacting	ENSG00000101198		0.667	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN4	HGNC	protein_coding	OTTHUMT00000080117.3	-	0	57	0	C	NM_152864		61879034	-1	tier1	-	no_errors	ENST00000370316	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.121	G	G	61879034	C	G	61879034	3	3	133	1	0	0	0	0	1	0	0	0	10477	623	22	5	275	5	NKAIN4	20	61879034	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	711381	61879034	1146486	502	34424											
RTEL1	51750	genome.wustl.edu	37	chr20	62309668	62309668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgctgttgagctgcctGgagacgacagcggtgtcacc	7	9	14	11	3	1	2	1	1	0	1	2	5	1	2	2	2	4	3	2	2	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:62309668G>C	ENST00000360203.5	+	12	1331	c.1006G>C	c.(1006-1008)Gga>Cga	p.G336R	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.G336R|RTEL1_ENST00000370018.3_Missense_Mutation_p.G336R|RTEL1_ENST00000318100.4_Missense_Mutation_p.G336R|RTEL1_ENST00000508582.2_Missense_Mutation_p.G360R					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)			TGAGCTGCCTGGAGACGACAG	0.657																																																	0													42	41	41					20																	62309668		2203	4300	6503	SO:0001583	missense	0			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.1006G>C	20.37:g.62309668G>C	ENSP00000353332:p.Gly336Arg			Missense_Mutation	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.G336R	ENST00000360203.5	37	c.1006		20	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754743	0.31046	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203	D;D;D;D	0.82344	-1.57;-1.6;-1.52;-1.58	4.26	4.26	0.50523	.	0.452976	0.23056	N	0.052434	D	0.88047	0.6332	M	0.72118	2.19	0.29579	N	0.84932	P;P;B	0.48162	0.906;0.57;0.321	P;B;B	0.59546	0.859;0.254;0.205	D	0.83855	0.0265	10	0.45353	T	0.12	-8.684	12.0389	0.53442	0.0:0.3275:0.6725:0.0	.	360;336;336	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	R	336;336;360;336	ENSP00000359035:G336R;ENSP00000322287:G336R;ENSP00000424307:G360R;ENSP00000353332:G336R	ENSP00000353332:G336R	G	+	1	0	AL353715.1	61780112	0.775000	0.28604	0.957000	0.39632	0.202000	0.24057	1.519000	0.35888	2.099000	0.63709	0.313000	0.20887	GGA	RTEL1	-	superfamily_P-loop_NTPase	ENSG00000258366		0.657	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	-	0	52	0	G	NM_032957		62309668	1	tier1	-	no_errors	ENST00000318100	ensembl	human	known	74_37	missense	12.16	65	9	SNP	0.801	C	C	62309668	G	C	62309668	3	2	133	1	0	0	0	0	1	0	0	0	13765	1349	47	5	1048	5	RTEL1	20	62309668	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	430634	62309668	715852	503	34425											
NPBWR2	2832	genome.wustl.edu	37	chr20	62737512	62737512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	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	gagcacacagatggtgcacaCgggcagcacgaagcccagga	13	2	14	12	2	0	1	0	0	0	1	0	4	0	2	1	3	4	4	1	3	1	0	rs75874947	byFrequency	TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr20:62737512C>G	ENST00000369768.1	-	1	1012	c.673G>C	c.(673-675)Gtg>Ctg	p.V225L		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	225					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					ATGGTGCACACGGGCAGCACG	0.662																																																	0													59	50	53					20																	62737512		2202	4293	6495	SO:0001583	missense	0			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.673G>C	20.37:g.62737512C>G	ENSP00000358783:p.Val225Leu		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.V225L	ENST00000369768.1	37	c.673	CCDS13557.1	20	.	.	.	.	.	.	.	.	.	.	C	9.718	1.158894	0.21454	.	.	ENSG00000125522	ENST00000369768	T	0.30182	1.54	3.59	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.082902	0.47093	U	0.000257	T	0.12135	0.0295	N	0.04787	-0.16	0.39370	D	0.966063	P	0.43542	0.81	B	0.38616	0.277	T	0.12760	-1.0535	10	0.45353	T	0.12	.	5.3555	0.16059	0.1983:0.6705:0.0:0.1312	.	225	P48146	NPBW2_HUMAN	L	225	ENSP00000358783:V225L	ENSP00000358783:V225L	V	-	1	0	NPBWR2	62207956	0.024000	0.19004	0.002000	0.10522	0.155000	0.21991	0.719000	0.25881	-0.068000	0.12953	0.491000	0.48974	GTG	NPBWR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000125522		0.662	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR2	HGNC	protein_coding	OTTHUMT00000080300.1	-	0	50	0	C	NM_005286		62737512	-1	tier1	-	no_errors	ENST00000369768	ensembl	human	known	74_37	missense	15.79	48	9	SNP	0.983	G	G	62737512	C	G	62737512	3	3	133	1	0	0	0	0	1	0	0	0	10608	536	19	5	331	5	NPBWR2	20	62737512	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	427844	62737512	288008	504	34426											
SFRS15	57466	genome.wustl.edu	37	chr21	33060625	33060625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcccaatattctcacctgtgGaggtggcactgttataggtg	8	13	11	9	0	1	0	1	0	1	0	3	1	2	1	2	4	0	2	2	4	4	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr21:33060625G>C	ENST00000286835.7	-	16	2420	c.2038C>G	c.(2038-2040)Cca>Gca	p.P680A	SCAF4_ENST00000399804.1_Missense_Mutation_p.P680A|SCAF4_ENST00000434667.3_Missense_Mutation_p.P665A	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	680						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						CTCACCTGTGGAGGTGGCACT	0.423																																																	0													230	211	218					21																	33060625		2203	4300	6503	SO:0001583	missense	0			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.2038C>G	21.37:g.33060625G>C	ENSP00000286835:p.Pro680Ala		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.P680A	ENST00000286835.7	37	c.2038	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187085	0.57909	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.48522	0.82;0.81;0.85	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000004	T	0.62171	0.2406	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.85130	0.994;0.991;0.997;0.994	T	0.54370	-0.8304	10	0.31617	T	0.26	-9.9478	18.3612	0.90375	0.0:0.0:1.0:0.0	.	665;680;680;680	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	A	665;680;680	ENSP00000402377:P665A;ENSP00000286835:P680A;ENSP00000382703:P680A	ENSP00000286835:P680A	P	-	1	0	SCAF4	31982496	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.575000	0.60908	2.840000	0.97914	0.655000	0.94253	CCA	SCAF4	-	NULL	ENSG00000156304		0.423	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	-	0	132	0	G	XM_047889		33060625	-1	tier1	-	no_errors	ENST00000286835	ensembl	human	known	74_37	missense	6.87	122	9	SNP	1.000	C	C	33060625	G	C	33060625	3	2	133	1	0	0	0	0	1	0	0	0	14216	1174	41	5	1425	5	SFRS15	21	33060625	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09		33060625	15069270	505	34427											
SYNJ1	8867	genome.wustl.edu	37	chr21	34003657	34003657	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtccttaaagccatcaagtGaagatgaagccctgcttttg	11	12	9	9	0	1	3	1	2	0	1	2	3	2	3	3	0	3	1	3	0	5	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr21:34003657G>C	ENST00000322229.7	-	31	4369	c.4370C>G	c.(4369-4371)tCa>tGa	p.S1457*	SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.S1496*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.S1410*|SYNJ1_ENST00000382499.2_3'UTR			O43426	SYNJ1_HUMAN	synaptojanin 1	1457	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCCATCAAGTGAAGATGAAGC	0.443																																																	0													86	88	88					21																	34003657		2203	4300	6503	SO:0001587	stop_gained	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.4370C>G	21.37:g.34003657G>C	ENSP00000322234:p.Ser1457*		O43425|O94984|Q4KMR1	Nonsense_Mutation	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.S1496*	ENST00000322229.7	37	c.4487	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.480515	0.98829	.	.	ENSG00000159082	ENST00000382491;ENST00000433931;ENST00000322229	.	.	.	5.25	4.36	0.52297	.	0.258282	0.27636	N	0.018493	.	.	.	.	.	.	0.50313	D	0.999865	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.0016	0.64437	0.0734:0.0:0.9266:0.0	.	.	.	.	X	1410;1496;1457	.	ENSP00000322234:S1457X	S	-	2	0	SYNJ1	32925528	0.659000	0.27411	0.006000	0.13384	0.440000	0.31957	1.883000	0.39658	1.327000	0.45338	0.655000	0.94253	TCA	SYNJ1	-	NULL	ENSG00000159082		0.443	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		-	0	95	0	G			34003657	-1	tier1	-	no_errors	ENST00000433931	ensembl	human	known	74_37	nonsense	5.26	90	5	SNP	0.021	C	C	34003657	G	C	34003657	4	2	133	1	0	0	0	0	0	1	0	0	15499	1294	45	5	355	5	SYNJ1	21	34003657	Nonsense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	943032	34003657	14126238	506	34428											
DYRK1A	1859	genome.wustl.edu	37	chr21	38878463	38878463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatccgacgcaccagcatcgGcacagtggtgggcacttcac	9	6	12	14	3	1	0	1	0	0	0	3	2	2	0	2	3	1	4	2	3	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr21:38878463G>A	ENST00000398960.2	+	10	1683	c.1608G>A	c.(1606-1608)cgG>cgA	p.R536R	DYRK1A_ENST00000338785.3_Silent_p.R536R|DYRK1A_ENST00000339659.4_Silent_p.R527R|DYRK1A_ENST00000398956.2_Intron|DYRK1A_ENST00000321219.8_Intron|DYRK1A_ENST00000455387.2_Silent_p.R308R|DYRK1A_ENST00000451934.1_Silent_p.R536R	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	536					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						ACCAGCATCGGCACAGTGGTG	0.562																																					Melanoma(114;464 1602 31203 43785 45765)												0													80	68	72					21																	38878463		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1608G>A	21.37:g.38878463G>A			O60769|Q92582|Q92810|Q9UNM5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R536	ENST00000398960.2	37	c.1608	CCDS42925.1	21																																																																																			DYRK1A	-	NULL	ENSG00000157540		0.562	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	-	0	31	0	G	NM_001396		38878463	1	tier1	-	no_errors	ENST00000398960	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	A	A	38878463	G	A	38878463	2	1	133	1	0	0	0	0	0	0	0	1	4868	1190	42	3		3	DYRK1A	21	38878463	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	4874806	38878463	9251432	507	34429											
LCA5L	150082	genome.wustl.edu	37	chr21	40777894	40777894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttagagtctccgaaagcatGgctggtggaggcctgactgg	8	10	15	8	1	1	2	0	1	1	1	2	4	1	3	2	5	1	2	2	5	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr21:40777894G>T	ENST00000358268.2	-	10	2455	c.1927C>A	c.(1927-1929)Cat>Aat	p.H643N	LCA5L_ENST00000495240.1_5'Flank|LCA5L_ENST00000380671.2_Missense_Mutation_p.H643N|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.H643N			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	643										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CCGAAAGCATGGCTGGTGGAG	0.423																																																	0													78	85	83					21																	40777894		2203	4300	6503	SO:0001583	missense	0			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 13"	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1927C>A	21.37:g.40777894G>T	ENSP00000351008:p.His643Asn		D3DSI0|Q3ZCT0	Missense_Mutation	SNP	NULL	p.H643N	ENST00000358268.2	37	c.1927	CCDS13665.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.89|10.89	1.478810|1.478810	0.26511|0.26511	.|.	.|.	ENSG00000157578|ENSG00000182093	ENST00000288350;ENST00000380671;ENST00000358268|ENST00000415847	T;T;T|.	0.41065|.	1.01;1.01;1.01|.	4.98|4.98	2.38|2.38	0.29361|0.29361	.|.	0.246200|.	0.28371|.	N|.	0.015581|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.00182|0.00182	-1.905|-1.905	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.26883|0.26883	-1.0090|-1.0090	10|6	0.02654|0.87932	T|D	1|0	-21.5513|-21.5513	10.3979|10.3979	0.44211|0.44211	0.0:0.0:0.5063:0.4937|0.0:0.0:0.5063:0.4937	.|.	643|.	O95447|.	LCA5L_HUMAN|.	N|L	643|38	ENSP00000288350:H643N;ENSP00000370046:H643N;ENSP00000351008:H643N|.	ENSP00000288350:H643N|ENSP00000410228:W38L	H|W	-|+	1|2	0|0	LCA5L|WRB	39699764|39699764	0.997000|0.997000	0.39634|0.39634	0.930000|0.930000	0.37139|0.37139	0.803000|0.803000	0.45373|0.45373	0.895000|0.895000	0.28363|0.28363	0.314000|0.314000	0.23086|0.23086	-0.256000|-0.256000	0.11100|0.11100	CAT|TGG	LCA5L	-	NULL	ENSG00000157578		0.423	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	-	0	128	0	G	NM_152505		40777894	-1	tier1	-	no_errors	ENST00000288350	ensembl	human	known	74_37	missense	6.62	127	9	SNP	0.517	T	T	40777894	G	T	40777894	3	4	133	1	0	0	0	0	1	0	0	0	8685	1348	47	3	89	3	LCA5L	21	40777894	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1899431	40777894	7352001	508	34430											
UPB1	51733	genome.wustl.edu	37	chr22	24919603	24919603	+	Silent	SNP	C	C	A	0	0	0	1	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	aaagctcaccaggactttggCtacttttatggctcgagcta	10	12	9	10	1	1	0	1	0	0	0	2	2	1	1	1	3	3	4	1	3	4	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr22:24919603C>A	ENST00000326010.5	+	9	1277	c.933C>A	c.(931-933)ggC>ggA	p.G311G	UPB1_ENST00000498140.1_3'UTR|UPB1_ENST00000413389.2_Silent_p.G243G	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	311	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					AGGACTTTGGCTACTTTTATG	0.552																																																	0													102	96	98					22																	24919603		2203	4300	6503	SO:0001819	synonymous_variant	0			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.933C>A	22.37:g.24919603C>A			A3KMF8|Q9UIR3	Silent	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.G311	ENST00000326010.5	37	c.933	CCDS13827.1	22																																																																																			UPB1	-	superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	ENSG00000100024		0.552	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPB1	HGNC	protein_coding	OTTHUMT00000319869.1		0	72	0	C			24919603	1			no_errors	ENST00000326010	ensembl	human	known	74_37	silent	7.04	66	5	SNP	1.000	A	A	24919603	C	A	24919603	2	1	133	1	0	0	0	0	0	0	0	1	17051	784	28	3		3	UPB1	22	24919603	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09		24919603	26384963	509	34431											
DEPDC5	9681	genome.wustl.edu	37	chr22	32293528	32293528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttagtcccagttttggagGggccttttgcactgcccagt	5	14	12	10	0	0	0	0	0	0	0	1	1	1	1	3	3	2	3	3	3	1	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr22:32293528G>T	ENST00000382112.3	+	39	4307	c.4237G>T	c.(4237-4239)Ggg>Tgg	p.G1413W	DEPDC5_ENST00000400248.2_Missense_Mutation_p.G1391W|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1422W|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G1400W|DEPDC5_ENST00000400246.1_Missense_Mutation_p.G1422W|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G1391W|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000539165.1_Missense_Mutation_p.G239W|DEPDC5_ENST00000535622.1_Missense_Mutation_p.G1322W	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1422					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGTTTTGGAGGGGCCTTTTGC	0.537																																																	0													120	118	119					22																	32293528		1935	4126	6061	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4237G>T	22.37:g.32293528G>T	ENSP00000371546:p.Gly1413Trp		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.G1400W	ENST00000382112.3	37	c.4198	CCDS46692.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	21.1|21.1	4.103851|4.103851	0.76983|0.76983	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	.|T;T;T;T;T;T;T	.|0.31510	.|1.49;1.91;1.91;1.9;1.91;1.9;1.91	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.196730|0.196730	0.45361|0.45361	D|D	0.000376|0.000376	T|T	0.42539|0.42539	0.1207|0.1207	N|N	0.22421|0.22421	0.69|0.69	0.54753|0.54753	D|D	0.999983|0.999983	.|D;D;D;D;D;D	.|0.76494	.|0.995;0.999;0.999;0.996;0.993;0.993	.|P;P;D;P;P;P	.|0.64595	.|0.781;0.885;0.927;0.855;0.72;0.72	T|T	0.38243|0.38243	-0.9670|-0.9670	6|10	.|0.72032	.|D	.|0.01	.|.	18.6148|18.6148	0.91299|0.91299	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1422;1322;808;1400;1413;1391	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	V|W	797|1322;1400;1391;1322;1422;1413;1422;1391;239	.|ENSP00000440210:G1322W;ENSP00000266091:G1400W;ENSP00000383108:G1391W;ENSP00000383105:G1422W;ENSP00000371546:G1413W;ENSP00000371545:G1422W;ENSP00000383107:G1391W	.|ENSP00000266091:G1400W	G|G	+|+	2|1	0|0	DEPDC5|DEPDC5	30623528|30623528	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.884000|0.884000	0.51177|0.51177	6.198000|6.198000	0.72106|0.72106	2.648000|2.648000	0.89879|0.89879	0.556000|0.556000	0.70494|0.70494	GGG|GGG	DEPDC5	-	NULL	ENSG00000100150		0.537	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	-	0	53	0	G	NM_014662		32293528	1	tier1	-	no_errors	ENST00000266091	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	32293528	G	T	32293528	3	4	133	1	0	0	0	0	1	0	0	0	4456	1232	43	3	4409	3	DEPDC5	22	32293528	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	7373925	32293528	19011038	510	34432											
NPTXR	23467	genome.wustl.edu	37	chr22	39222664	39222664	+	Silent	SNP	C	C	A	0	0	0	1	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	gtgaatgcgtagagctcgggCagagccttccgcacgcgggc	7	6	16	12	5	0	3	0	1	0	2	2	3	1	3	2	2	3	4	2	2	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr22:39222664C>A	ENST00000333039.2	-	3	1062	c.939G>T	c.(937-939)ctG>ctT	p.L313L		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	313	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGAGCTCGGGCAGAGCCTTCC	0.647																																					Pancreas(139;2521 3281 36965)												0													92	81	84					22																	39222664		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.939G>T	22.37:g.39222664C>A				Silent	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.L313	ENST00000333039.2	37	c.939	CCDS33647.1	22																																																																																			NPTXR	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin	ENSG00000221890		0.647	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	HGNC	protein_coding	OTTHUMT00000318194.2	-	0	32	0	C	NM_014293		39222664	-1	tier1	-	no_errors	ENST00000333039	ensembl	human	known	74_37	silent	11.54	45	6	SNP	1.000	A	A	39222664	C	A	39222664	2	1	133	1	0	0	0	0	0	0	0	1	10643	697	25	3		3	NPTXR	22	39222664	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	6929136	39222664	12081902	511	34433											
TAB1	10454	genome.wustl.edu	37	chr22	39815583	39815583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtgggcaggagagcacccggCggatcggggattacaaggtt	9	6	18	8	3	0	1	0	0	0	1	1	4	0	3	1	7	2	3	1	7	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr22:39815583C>T	ENST00000216160.6	+	7	786	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	TAB1_ENST00000331454.3_Missense_Mutation_p.R242W	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	242	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						GAGCACCCGGCGGATCGGGGA	0.537																																																	0													132	121	125					22																	39815583		2203	4300	6503	SO:0001583	missense	0			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.724C>T	22.37:g.39815583C>T	ENSP00000216160:p.Arg242Trp		Q2PP09|Q8IZW2	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.R242W	ENST00000216160.6	37	c.724	CCDS13993.1	22	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013465	0.75161	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.17691	2.26;2.26	4.83	4.83	0.62350	Protein phosphatase 2C-like (4);	0.060807	0.64402	D	0.000008	T	0.35278	0.0926	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.986;0.993;0.999	T	0.02942	-1.1091	10	0.87932	D	0	-12.0128	13.4475	0.61148	0.1566:0.8434:0.0:0.0	.	242;242;386	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	W	242	ENSP00000216160:R242W;ENSP00000333049:R242W	ENSP00000216160:R242W	R	+	1	2	TAB1	38145529	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.740000	0.47418	2.655000	0.90218	0.655000	0.94253	CGG	TAB1	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000100324		0.537	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB1	HGNC	protein_coding	OTTHUMT00000321313.1	-	0	82	0	C	NM_153497		39815583	1	tier1	-	no_errors	ENST00000216160	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	T	T	39815583	C	T	39815583	3	4	133	1	0	0	0	0	1	0	0	0	15542	759	27	1	750	1	TAB1	22	39815583	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	592919	39815583	11488983	512	34434											
CACNA1I	8911	genome.wustl.edu	37	chr22	39996623	39996623	+	Silent	SNP	A	A	T	1	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	aagtgctacctcggggacacAtggaaccgcctggatttctt	9	10	11	11	2	1	0	0	0	1	0	2	3	1	3	3	4	3	1	3	4	3	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr22:39996623A>T	ENST00000402142.3	+	3	447	c.447A>T	c.(445-447)acA>acT	p.T149T	CACNA1I_ENST00000401624.1_Silent_p.T149T|CACNA1I_ENST00000407673.1_Silent_p.T149T|CACNA1I_ENST00000404898.1_Silent_p.T149T|CACNA1I_ENST00000336649.4_Silent_p.T149T|CACNA1I_ENST00000400164.3_Silent_p.T149T	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	149					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)	TCGGGGACACATGGAACCGCC	0.527																																																	0													78	77	77					22																	39996623		1939	4144	6083	SO:0001819	synonymous_variant	0			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.447A>T	22.37:g.39996623A>T			B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.T149	ENST00000402142.3	37	c.447	CCDS46710.1	22																																																																																			CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.527	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1		0	62	0	A	NM_001003406		39996623	1			no_errors	ENST00000336649	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.058	T	T	39996623	A	T	39996623	2	4	133	1	0	0	0	0	0	0	0	1	2553	204	8	5		5	CACNA1I	22	39996623	Silent	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	181040	39996623	11307943	513	34435											
XRCC6	2547	genome.wustl.edu	37	chr22	42032580	42032580	+	Missense_Mutation	SNP	A	A	G	1	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	gcagggacaaaaacgtttccAagacatgatgggccacggat	14	6	12	9	2	0	2	0	1	0	1	1	4	1	4	2	3	1	2	2	3	3	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chr22:42032580A>G	ENST00000359308.4	+	4	1050	c.395A>G	c.(394-396)cAa>cGa	p.Q132R	XRCC6_ENST00000405878.1_Missense_Mutation_p.Q132R|XRCC6_ENST00000405506.1_Missense_Mutation_p.Q82R|XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000360079.3_Missense_Mutation_p.Q132R|XRCC6_ENST00000402580.3_Missense_Mutation_p.Q91R			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	132					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|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)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|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)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AAACGTTTCCAAGACATGATG	0.463								Non-homologous end-joining																																									0													75	66	69					22																	42032580		2203	4300	6503	SO:0001583	missense	0			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.395A>G	22.37:g.42032580A>G	ENSP00000352257:p.Gln132Arg		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70	p.Q132R	ENST00000359308.4	37	c.395	CCDS14021.1	22	.	.	.	.	.	.	.	.	.	.	A	4.262	0.047625	0.08243	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.71	1.28	0.21552	Ku70/Ku80, N-terminal alpha/beta (1);	0.464144	0.24752	N	0.035885	T	0.27866	0.0686	N	0.12569	0.235	0.50171	D	0.999856	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12156	0.007;0.003;0.003;0.007	T	0.04400	-1.0954	9	0.15499	T	0.54	-3.0482	7.8648	0.29530	0.4697:0.0:0.5303:0.0	rs11557351;rs11557351	82;132;91;132	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	R	132;91;132;132;132;82	.	ENSP00000352257:Q132R	Q	+	2	0	XRCC6	40362526	0.154000	0.22792	0.803000	0.32268	0.557000	0.35523	0.310000	0.19356	0.458000	0.26988	0.533000	0.62120	CAA	XRCC6	-	pirsf_Ku70,pfam_Ku_N,tigrfam_Ku70	ENSG00000196419		0.463	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC6	HGNC	protein_coding	OTTHUMT00000321688.1		0	107	0	A	NM_001469		42032580	1			no_errors	ENST00000359308	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.251	G	G	42032580	A	G	42032580	3	3	133	1	0	0	0	0	1	0	0	0	17506	130	5	4	409	4	XRCC6	22	42032580	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	2035957	42032580	9271986	514	34436											
CLCN4	1183	genome.wustl.edu	37	chrX	10180566	10180566	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgatagcgggcaggatggtGggaattggcgtggagcagct	8	7	20	6	3	0	0	0	0	0	0	0	4	0	3	0	6	3	3	0	6	2	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:10180566G>T	ENST00000380833.4	+	10	1840	c.1449G>T	c.(1447-1449)gtG>gtT	p.V483V	CLCN4_ENST00000421085.2_Silent_p.V389V|CLCN4_ENST00000380829.1_Silent_p.V452V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	483					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCAGGATGGTGGGAATTGGCG	0.582																																					Melanoma(74;1050 1296 1576 30544 38374)												0													96	79	84					X																	10180566		2203	4300	6503	SO:0001819	synonymous_variant	0			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1449G>T	X.37:g.10180566G>T			A1L3U1|B7Z5Z4|Q9UBU1	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-4	p.V483	ENST00000380833.4	37	c.1449	CCDS14137.1	X																																																																																			CLCN4	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000073464		0.582	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN4	HGNC	protein_coding	OTTHUMT00000055730.1		0	69	0	G			10180566	1			no_errors	ENST00000380833	ensembl	human	known	74_37	silent	7.25	64	5	SNP	1.000	T	T	10180566	G	T	10180566	2	4	133	1	0	0	0	0	0	0	0	1	3472	1335	47	3		3	CLCN4	23	10180566	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09		10180566	145089994	515	34437											
ARHGAP6	395	genome.wustl.edu	37	chrX	11204402	11204402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccaccagcctagggacCtgtctgtaaataggattcag	10	10	10	11	0	2	0	1	0	1	0	3	2	3	2	4	2	1	1	4	2	4	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:11204402C>A	ENST00000337414.4	-	5	2099	c.1227G>T	c.(1225-1227)caG>caT	p.Q409H	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q206H|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q234H|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q218H|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q441H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q206H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q409H	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	409	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						GCCTAGGGACCTGTCTGTAAA	0.413																																																	0													151	133	139					X																	11204402		2203	4300	6503	SO:0001583	missense	0			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.1227G>T	X.37:g.11204402C>A	ENSP00000338967:p.Gln409His		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q409H	ENST00000337414.4	37	c.1227	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428583	0.62844	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.66	3.83	0.44106	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.51477	D	0.000096	T	0.54367	0.1854	L	0.53671	1.685	0.58432	D	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	0.997;0.988;0.999;0.992;0.999	T	0.48340	-0.9044	10	0.40728	T	0.16	.	7.9885	0.30226	0.0:0.6651:0.0:0.3349	.	218;206;409;409;409	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	H	234;206;206;409;245;409;218;441	ENSP00000438135:Q234H;ENSP00000370112:Q206H;ENSP00000302312:Q206H;ENSP00000338967:Q409H;ENSP00000370093:Q245H;ENSP00000370094:Q409H;ENSP00000389394:Q218H;ENSP00000370108:Q441H	ENSP00000302312:Q206H	Q	-	3	2	ARHGAP6	11114323	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.861000	0.39438	0.509000	0.28195	-0.380000	0.06706	CAG	ARHGAP6	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000047648		0.413	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	-	0	91	0	C	NM_013427		11204402	-1	tier1	-	no_errors	ENST00000337414	ensembl	human	known	74_37	missense	5.43	87	5	SNP	1.000	A	A	11204402	C	A	11204402	3	1	133	1	0	0	0	0	1	0	0	0	887	680	24	3	1855	3	ARHGAP6	23	11204402	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	1023836	11204402	144066158	516	34438											
DCAF8L1	139425	genome.wustl.edu	37	chrX	27998866	27998866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tatggtactgacagaaccggCatggcttccaagaagatact	13	9	10	9	1	0	4	0	1	0	3	1	4	1	4	2	3	3	3	2	3	6	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:27998866C>A	ENST00000441525.1	-	1	700	c.586G>T	c.(586-588)Gcc>Tcc	p.A196S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	196										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACAGAACCGGCATGGCTTCCA	0.562													C|||	2	0.000529801	0	0	3775	,	,		14720	0		0	False		,,,				2504	0.002																0													33	27	29					X																	27998866		2202	4299	6501	SO:0001583	missense	0				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.586G>T	X.37:g.27998866C>A	ENSP00000405222:p.Ala196Ser		B3KXX1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A196S	ENST00000441525.1	37	c.586	CCDS35222.1	X	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.980094	0.00448	.	.	ENSG00000226372	ENST00000441525	T	0.58060	0.36	0.842	-1.68	0.08212	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.481914	0.21650	N	0.071187	T	0.18467	0.0443	N	0.04245	-0.25	0.19945	N	0.999944	B	0.06786	0.001	B	0.15052	0.012	T	0.19160	-1.0314	10	0.06625	T	0.88	3.3379	2.2312	0.03997	0.3047:0.2387:0.0:0.4566	.	196	A6NGE4	DC8L1_HUMAN	S	196	ENSP00000405222:A196S	ENSP00000405222:A196S	A	-	1	0	DCAF8L1	27908787	0.598000	0.26882	0.000000	0.03702	0.002000	0.02628	0.155000	0.16362	-1.513000	0.01789	-0.739000	0.03532	GCC	DCAF8L1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000226372		0.562	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	HGNC	protein_coding	OTTHUMT00000056150.2	-	0	117	0	C	XM_066690		27998866	-1	tier1	-	no_errors	ENST00000441525	ensembl	human	known	74_37	missense	5.13	111	6	SNP	0.813	A	A	27998866	C	A	27998866	3	1	133	1	0	0	0	0	1	0	0	0	4286	710	25	3	1220	3	DCAF8L1	23	27998866	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	16794464	27998866	127271694	517	34439											
DMD	1756	genome.wustl.edu	37	chrX	32481653	32481653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcattctttatcttctgcCcaccttcattgacactgttt	6	19	3	13	0	5	1	2	1	3	0	5	1	5	1	2	0	1	1	2	0	1	8			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:32481653C>A	ENST00000357033.4	-	25	3541	c.3335G>T	c.(3334-3336)gGg>gTg	p.G1112V	DMD_ENST00000378677.2_Missense_Mutation_p.G1108V	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	1112					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)				TATCTTCTGCCCACCTTCATT	0.388																																																	0													178	122	141					X																	32481653		2202	4299	6501	SO:0001583	missense	0			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.3335G>T	X.37:g.32481653C>A	ENSP00000354923:p.Gly1112Val		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.G1112V	ENST00000357033.4	37	c.3335	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486575	0.63962	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.39787	1.06;1.06	5.43	4.57	0.56435	.	0.000000	0.37669	U	0.001994	T	0.62258	0.2413	M	0.73598	2.24	0.80722	D	1	D;P;D	0.89917	0.999;0.752;1.0	D;P;D	0.70716	0.95;0.518;0.97	T	0.60994	-0.7152	10	0.26408	T	0.33	.	15.2254	0.73348	0.0:0.8546:0.1454:0.0	.	1104;1112;1108	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	V	1104;1108;1112;1112;989	ENSP00000367948:G1108V;ENSP00000354923:G1112V	ENSP00000354923:G1112V	G	-	2	0	DMD	32391574	1.000000	0.71417	0.942000	0.38095	0.955000	0.61496	4.850000	0.62889	1.059000	0.40554	0.436000	0.28706	GGG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	71	0	C	NM_004006		32481653	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	5.68	83	5	SNP	0.998	A	A	32481653	C	A	32481653	3	1	133	1	0	0	0	0	1	0	0	0	4594	623	22	3	8185	3	DMD	23	32481653	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	4482787	32481653	122788907	518	34440											
RPGR	6103	genome.wustl.edu	37	chrX	38178137	38178137	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcttaatcttatgctcGgatgtaaaaaagctaattac	14	13	7	7	1	1	0	0	0	1	0	2	1	1	1	0	1	5	5	0	1	7	5	rs376887697		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:38178137G>T	ENST00000339363.3	-	5	581	c.414C>A	c.(412-414)tcC>tcA	p.S138S	RPGR_ENST00000318842.7_Silent_p.S138S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Silent_p.S138S|RPGR_ENST00000338898.3_Silent_p.S138S|RPGR_ENST00000309513.3_Silent_p.S138S|RPGR_ENST00000378505.2_Silent_p.S138S			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	138					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						TCTTATGCTCGGATGTAAAAA	0.418																																																	0													115	93	100					X																	38178137		2202	4300	6502	SO:0001819	synonymous_variant	0			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.414C>A	X.37:g.38178137G>T			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S138	ENST00000339363.3	37	c.414		X																																																																																			RPGR	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000156313		0.418	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		-	0	84	0	G	NM_000328		38178137	-1	tier1	-	no_errors	ENST00000378505	ensembl	human	known	74_37	silent	5.32	89	5	SNP	0.000	T	T	38178137	G	T	38178137	2	4	133	1	0	0	0	0	0	0	0	1	13593	1103	39	2		2	RPGR	23	38178137	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5696484	38178137	117092423	519	34441											
GAGE10	643832	genome.wustl.edu	37	chrX	49161383	49161383	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcggtctagaccaagactCtatgtagagccccctgaaat	12	10	8	11	1	2	4	0	1	2	3	3	4	2	4	3	1	1	1	3	1	6	4			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:49161383C>G	ENST00000407599.3	+	2	138	c.45C>G	c.(43-45)ctC>ctG	p.L15L		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	15										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					GACCAAGACTCTATGTAGAGC	0.438																																																	0													212	219	217					X																	49161383		2203	4300	6503	SO:0001819	synonymous_variant	0					Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.45C>G	X.37:g.49161383C>G				Silent	SNP	pfam_GAGE	p.L15	ENST00000407599.3	37	c.45	CCDS43938.1	X																																																																																			GAGE10	-	pfam_GAGE	ENSG00000215274		0.438	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	GAGE10	HGNC	protein_coding	OTTHUMT00000060816.1	-	0	571	0	C	NM_001098413		49161383	1	tier1	-	no_errors	ENST00000407599	ensembl	human	known	74_37	silent	8.45	626	58	SNP	0.000	G	G	49161383	C	G	49161383	2	3	133	1	0	0	0	0	0	0	0	1	6211	900	32	5		5	GAGE10	23	49161383	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	10983246	49161383	106109177	520	34442											
TSR2	90121	genome.wustl.edu	37	chrX	54467182	54467182	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaaggccaagtggctgggGggtgcagtggaggattactt	9	8	19	5	0	0	1	0	0	0	1	0	4	0	3	1	7	2	2	1	7	3	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:54467182G>T	ENST00000375151.4	+	2	162	c.141G>T	c.(139-141)ggG>ggT	p.G47G		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	47					rRNA processing (GO:0006364)					breast(1)|endometrium(3)|lung(2)	6						AGTGGCTGGGGGGTGCAGTGG	0.617																																																	0													52	49	50					X																	54467182		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007699	CCDS14358.1	Xp11.22	2008-10-01			ENSG00000158526	ENSG00000158526			25455	protein-coding gene	gene with protein product	"WGG motif containing 1"					9417904	Standard	NM_058163		Approved	DT1P1A10, RP1-112K5.2, WGG1	uc004dte.3	Q969E8	OTTHUMG00000021628	ENST00000375151.4:c.141G>T	X.37:g.54467182G>T				Silent	SNP	pfam_Pre-rRNA_process_TSR2	p.G47	ENST00000375151.4	37	c.141	CCDS14358.1	X																																																																																			TSR2	-	pfam_Pre-rRNA_process_TSR2	ENSG00000158526		0.617	TSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR2	HGNC	protein_coding	OTTHUMT00000056802.1	-	0	183	0	G	NM_058163		54467182	1	tier1	-	no_errors	ENST00000375151	ensembl	human	known	74_37	silent	5.83	210	13	SNP	1.000	T	T	54467182	G	T	54467182	2	4	133	1	0	0	0	0	0	0	0	1	16713	1219	43	3		3	TSR2	23	54467182	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	5305799	54467182	100803378	521	34443											
AR	367	genome.wustl.edu	37	chrX	66931399	66931399	+	Missense_Mutation	SNP	A	A	G	1	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	ttctgaatgtcctggaagccAttgagccaggtgtagtgtgt	8	13	13	7	0	1	2	0	2	1	0	2	3	2	3	3	2	2	1	3	2	3	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:66931399A>G	ENST00000374690.3	+	4	2565	c.2041A>G	c.(2041-2043)Att>Gtt	p.I681V	AR_ENST00000396044.3_Missense_Mutation_p.I681V|AR_ENST00000396043.2_Missense_Mutation_p.I149V	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	680	Interaction with KAT7.|Interaction with LPXN.		E -> K (in AIS). {ECO:0000269|PubMed:10221692, ECO:0000269|PubMed:8325950}.		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)	CCTGGAAGCCATTGAGCCAGG	0.532									Androgen Insensitivity Syndrome																																								0													124	87	99					X																	66931399		2203	4300	6503	SO:0001583	missense	0	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.2041A>G	X.37:g.66931399A>G	ENSP00000363822:p.Ile681Val		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.I681V	ENST00000374690.3	37	c.2041	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	a	21.1	4.096103	0.76870	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396044;ENST00000396043	D;D;D	0.99766	-6.69;-2.42;-6.69	5.18	5.18	0.71444	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.95816	3.725	0.58432	D	0.999996	D;P	0.56521	0.976;0.919	D;P	0.72075	0.976;0.79	D	0.96920	0.9673	10	0.87932	D	0	.	11.7744	0.51977	1.0:0.0:0.0:0.0	.	149;680	F1D8N5;P10275	.;ANDR_HUMAN	V	491;681;681;149	ENSP00000363822:I681V;ENSP00000379359:I681V;ENSP00000379358:I149V	ENSP00000363822:I681V	I	+	1	0	AR	66848124	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.136000	0.94489	1.909000	0.55274	0.478000	0.44815	ATT	AR	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000169083		0.532	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1		0	70	0	A	NM_000044		66931399	1			no_errors	ENST00000374690	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	G	G	66931399	A	G	66931399	3	3	133	1	0	0	0	0	1	0	0	0	836	217	8	4	2079	4	AR	23	66931399	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	12464217	66931399	88339161	522	34444											
DGAT2L6	347516	genome.wustl.edu	37	chrX	69421794	69421794	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgacccagaaaggctCaggcaatgccgtggttattg	9	10	12	10	1	1	2	1	1	0	1	1	2	1	2	2	3	2	4	2	3	3	3			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:69421794C>A	ENST00000333026.3	+	5	627	c.527C>A	c.(526-528)tCa>tAa	p.S176*		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	176					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CAGAAAGGCTCAGGCAATGCC	0.517																																																	0													107	90	96					X																	69421794		2203	4300	6503	SO:0001587	stop_gained	0			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.527C>A	X.37:g.69421794C>A	ENSP00000328036:p.Ser176*		Q6IEE2	Nonsense_Mutation	SNP	pfam_DAGAT	p.S176*	ENST00000333026.3	37	c.527	CCDS14397.1	X	.	.	.	.	.	.	.	.	.	.	C	34	5.317712	0.95682	.	.	ENSG00000184210	ENST00000333026	.	.	.	4.51	4.51	0.55191	.	0.350198	0.24278	N	0.039922	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-19.4915	9.797	0.40742	0.0:0.7955:0.2045:0.0	.	.	.	.	X	176	.	ENSP00000328036:S176X	S	+	2	0	DGAT2L6	69338519	0.978000	0.34361	0.996000	0.52242	0.942000	0.58702	2.453000	0.44970	2.234000	0.73211	0.594000	0.82650	TCA	DGAT2L6	-	pfam_DAGAT	ENSG00000184210		0.517	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT2L6	HGNC	protein_coding	OTTHUMT00000057067.1	-	0	69	0	C	NM_198512		69421794	1	tier1	-	no_errors	ENST00000333026	ensembl	human	known	74_37	nonsense	10.39	69	8	SNP	1.000	A	A	69421794	C	A	69421794	4	1	133	1	0	0	0	0	0	1	0	0	4473	838	29	3	545	3	DGAT2L6	23	69421794	Nonsense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	2490395	69421794	85848766	523	34445											
DACH2	117154	genome.wustl.edu	37	chrX	85994826	85994826	+	Missense_Mutation	SNP	A	A	T	1	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	tgggagccagacctcttcccAcaccagcagcagtgtgtcca	9	7	10	15	0	1	1	0	0	1	1	3	2	3	2	5	1	3	2	5	1	0	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:85994826A>T	ENST00000373125.4	+	7	1181	c.1181A>T	c.(1180-1182)cAc>cTc	p.H394L	DACH2_ENST00000508860.1_Missense_Mutation_p.H227L|DACH2_ENST00000510272.1_Missense_Mutation_p.H175L|DACH2_ENST00000373131.1_Missense_Mutation_p.H381L	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	394					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						ACCTCTTCCCACACCAGCAGC	0.473																																																	0													80	63	69					X																	85994826		2203	4299	6502	SO:0001583	missense	0			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.1181A>T	X.37:g.85994826A>T	ENSP00000362217:p.His394Leu		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.H394L	ENST00000373125.4	37	c.1181	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829685	0.71258	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.83837	-1.77;-1.75	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	D	0.83464	0.5260	L	0.53249	1.67	0.58432	D	0.999993	D;D;P;P	0.54047	0.964;0.964;0.949;0.956	P;P;P;B	0.51415	0.532;0.554;0.669;0.366	T	0.80797	-0.1222	10	0.20519	T	0.43	.	13.8686	0.63603	1.0:0.0:0.0:0.0	.	260;394;381;394	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	L	394;381;394;227;175;227;49	ENSP00000362223:H381L;ENSP00000362217:H394L	ENSP00000345134:H394L	H	+	2	0	DACH2	85881482	1.000000	0.71417	0.904000	0.35570	0.552000	0.35366	6.337000	0.72958	1.650000	0.50662	0.412000	0.27726	CAC	DACH2	-	NULL	ENSG00000126733		0.473	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	-	0	64	0	A	NM_053281		85994826	1	tier1	-	no_errors	ENST00000373125	ensembl	human	known	74_37	missense	10.47	77	9	SNP	0.998	T	T	85994826	A	T	85994826	3	4	133	1	0	0	0	0	1	0	0	0	4230	159	6	5	1207	5	DACH2	23	85994826	Missense_Mutation	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	16573032	85994826	69275734	524	34446											
DACH2	117154	genome.wustl.edu	37	chrX	86071037	86071037	+	Splice_Site	SNP	A	A	G	1	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	ttgcatgtcatttatttcagAtactggaattccagatattg	11	17	7	6	0	2	2	2	0	0	2	3	3	3	3	1	1	2	1	1	1	4	8			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:86071037A>G	ENST00000373125.4	+	11	1685	c.1685A>G	c.(1684-1686)gAt>gGt	p.D562G	DACH2_ENST00000508860.1_Splice_Site_p.D395G|DACH2_ENST00000510272.1_Splice_Site_p.D343G|DACH2_ENST00000373131.1_Splice_Site_p.D549G	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	562					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						TTTATTTCAGATACTGGAATT	0.358																																																	0													60	57	58					X																	86071037		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1685-1A>G	X.37:g.86071037A>G			B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.D562G	ENST00000373125.4	37	c.1685	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	A	11.73	1.726712	0.30593	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.86297	-2.08;-2.1	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000006	T	0.81522	0.4840	N	0.20986	0.625	0.50039	D	0.99984	P;B;P;P	0.50443	0.736;0.199;0.933;0.935	B;B;P;B	0.46452	0.272;0.098;0.517;0.411	T	0.80086	-0.1529	9	.	.	.	.	13.3817	0.60770	1.0:0.0:0.0:0.0	.	428;562;549;562	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	G	562;549;562;395;343;395;227	ENSP00000362223:D549G;ENSP00000362217:D562G	.	D	+	2	0	DACH2	85957693	1.000000	0.71417	0.999000	0.59377	0.300000	0.27592	6.485000	0.73625	1.531000	0.49152	0.417000	0.27973	GAT	DACH2	-	NULL	ENSG00000126733		0.358	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	-	0	134	0	A	NM_053281	Missense_Mutation	86071037	1	tier1	-	no_errors	ENST00000373125	ensembl	human	known	74_37	missense	6.47	130	9	SNP	1.000	G	G	86071037	A	G	86071037	5	3	133	1	0	0	0	0	0	0	1	0	4230	347	12	4	1727	4	DACH2	23	86071037	Splice_Site	SNP	A	TCGA-LN-A9FP-01A-31D-A387-09	76211	86071037	69199523	525	34447											
AMOT	154796	genome.wustl.edu	37	chrX	112059028	112059028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagcaagggcaaggaccccCcagaggtcagagaagaagta	15	3	14	9	0	1	3	1	0	0	3	1	5	1	4	3	3	1	4	3	3	6	2			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:112059028C>A	ENST00000524145.1	-	3	1024	c.950G>T	c.(949-951)gGg>gTg	p.G317V	AMOT_ENST00000371958.1_Missense_Mutation_p.G85V|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371959.3_Missense_Mutation_p.G317V|AMOT_ENST00000371962.1_Missense_Mutation_p.G85V			Q4VCS5	AMOT_HUMAN	angiomotin	317					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CAAGGACCCCCCAGAGGTCAG	0.567																																																	0													68	63	64					X																	112059028		692	1591	2283	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.950G>T	X.37:g.112059028C>A	ENSP00000429013:p.Gly317Val		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.G317V	ENST00000524145.1	37	c.950	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232103	0.58777	.	.	ENSG00000126016	ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.11	4.18	0.49190	.	0.529823	0.20928	N	0.083153	T	0.09069	0.0224	L	0.29908	0.895	0.58432	D	0.999998	B	0.21071	0.051	B	0.17433	0.018	T	0.15492	-1.0435	10	0.12766	T	0.61	-15.5865	9.5704	0.39425	0.3864:0.6136:0.0:0.0	.	317	Q4VCS5	AMOT_HUMAN	V	317;85;317;85	ENSP00000361027:G317V;ENSP00000361030:G85V;ENSP00000429013:G317V;ENSP00000361026:G85V	ENSP00000361026:G85V	G	-	2	0	AMOT	111945684	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.753000	0.62183	2.374000	0.81015	0.529000	0.55759	GGG	AMOT	-	NULL	ENSG00000126016		0.567	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	-	0	88	0	C	NM_133265		112059028	-1	tier1	-	no_errors	ENST00000371959	ensembl	human	known	74_37	missense	9.28	88	9	SNP	1.000	A	A	112059028	C	A	112059028	3	1	133	1	0	0	0	0	1	0	0	0	582	623	22	3	2344	3	AMOT	23	112059028	Missense_Mutation	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	25987991	112059028	43211532	526	34448											
RBMX2	51634	genome.wustl.edu	37	chrX	129545421	129545421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagacaactccaggagaagGgctgtggggctcgtaccccc	9	5	13	14	1	0	2	0	0	0	2	2	3	1	2	4	4	2	3	4	4	3	1			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:129545421G>T	ENST00000305536.6	+	5	467	c.403G>T	c.(403-405)Ggc>Tgc	p.G135C	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	135							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CCAGGAGAAGGGCTGTGGGGC	0.443																																																	0													112	100	103					X																	129545421		1880	4088	5968	SO:0001583	missense	0			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"RNA binding motif (RRM) containing"	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.403G>T	X.37:g.129545421G>T	ENSP00000339090:p.Gly135Cys		A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G135C	ENST00000305536.6	37	c.403	CCDS43993.1	X	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607791	0.46527	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.16897	2.31	5.26	5.26	0.73747	.	0.095757	0.64402	D	0.000001	T	0.29028	0.0721	M	0.63428	1.95	0.80722	D	1	P	0.44816	0.844	P	0.48304	0.573	T	0.02464	-1.1155	10	0.87932	D	0	.	15.4681	0.75419	0.0:0.0:1.0:0.0	.	135	Q9Y388	RBMX2_HUMAN	C	135	ENSP00000339090:G135C	ENSP00000339090:G135C	G	+	1	0	RBMX2	129373102	1.000000	0.71417	0.994000	0.49952	0.004000	0.04260	8.530000	0.90606	2.334000	0.79466	0.600000	0.82982	GGC	RBMX2	-	NULL	ENSG00000134597		0.443	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	HGNC	protein_coding	OTTHUMT00000058265.1	-	0	96	0	G	NM_016024		129545421	1	tier1	-	no_errors	ENST00000305536	ensembl	human	known	74_37	missense	7.22	90	7	SNP	1.000	T	T	129545421	G	T	129545421	3	4	133	1	0	0	0	0	1	0	0	0	13197	1232	43	3	421	3	RBMX2	23	129545421	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	17486393	129545421	25725139	527	34449											
SLITRK4	139065	genome.wustl.edu	37	chrX	142718475	142718475	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtggagcttattgaaGgctcctcgttcaatatactt	9	16	9	7	1	1	1	1	1	0	0	3	2	2	2	1	2	2	4	1	2	5	7			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:142718475G>T	ENST00000381779.4	-	2	675	c.450C>A	c.(448-450)gcC>gcA	p.A150A	SLITRK4_ENST00000356928.1_Silent_p.A150A|SLITRK4_ENST00000338017.4_Silent_p.A150A	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	150						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)					GCTTATTGAAGGCTCCTCGTT	0.383																																																	0													82	82	82					X																	142718475		2203	4300	6503	SO:0001819	synonymous_variant	0			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.450C>A	X.37:g.142718475G>T			Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A150	ENST00000381779.4	37	c.450	CCDS14679.1	X																																																																																			SLITRK4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000179542		0.383	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	-	0	65	0	G	NM_173078		142718475	-1	tier1	-	no_errors	ENST00000338017	ensembl	human	known	74_37	silent	11.48	54	7	SNP	1.000	T	T	142718475	G	T	142718475	2	4	133	1	0	0	0	0	0	0	0	1	14790	987	35	3		3	SLITRK4	23	142718475	Silent	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	13173054	142718475	12552085	528	34450											
CNGA2	1260	genome.wustl.edu	37	chrX	150909341	150909341	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttgtcattgccatgccCgtcctttacaactggtgcct	6	15	7	13	1	1	0	1	0	0	0	2	0	2	0	4	1	5	0	4	1	3	5			TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:150909341C>A	ENST00000329903.4	+	4	483	c.450C>A	c.(448-450)ccC>ccA	p.P150P		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	150					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCATGCCCGTCCTTTACA	0.557																																																	0													178	153	161					X																	150909341		2203	4300	6503	SO:0001819	synonymous_variant	0			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.450C>A	X.37:g.150909341C>A			A0AVD0	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P150	ENST00000329903.4	37	c.450	CCDS14701.1	X																																																																																			CNGA2	-	NULL	ENSG00000183862		0.557	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA2	HGNC	protein_coding	OTTHUMT00000060888.1		0	42	0	C	NM_005140		150909341	1			no_errors	ENST00000329903	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.942	A	A	150909341	C	A	150909341	2	1	133	1	0	0	0	0	0	0	0	1	3604	639	23	2		2	CNGA2	23	150909341	Silent	SNP	C	TCGA-LN-A9FP-01A-31D-A387-09	8190866	150909341	4361219	529	34451											
PNMA3	29944	genome.wustl.edu	37	chrX	152226335	152226335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacccttcctgacaaactccGagataagcttaagctgatga	13	9	7	12	1	0	4	0	3	0	1	2	5	2	4	3	0	3	2	3	0	3	3	rs371005134		TCGA-LN-A9FP-01A-31D-A387-09	TCGA-LN-A9FP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b4e74934-f10d-4f7c-aacb-dc3e8f75ba95	27379346-c896-4ae6-8780-020cac2513ef	g.chrX:152226335G>C	ENST00000370264.4	+	1	949	c.923G>C	c.(922-924)cGa>cCa	p.R308P	PNMA3_ENST00000447306.1_Missense_Mutation_p.R308P|PNMA3_ENST00000370265.4_Missense_Mutation_p.R308P			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	308					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gacaaactccgagataagctt	0.512																																																	0													58	54	56					X																	152226335		2203	4300	6503	SO:0001583	missense	0			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.923G>C	X.37:g.152226335G>C	ENSP00000359286:p.Arg308Pro		D3DWT7|Q9H0A4	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.R308P	ENST00000370264.4	37	c.923	CCDS35435.2	X	.	.	.	.	.	.	.	.	.	.	g	11.19	1.566265	0.27915	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.11063	2.81;2.81;2.81	1.98	0.137	0.14787	.	.	.	.	.	T	0.23014	0.0556	M	0.61703	1.905	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.09596	-1.0667	9	0.56958	D	0.05	.	4.1399	0.10188	0.4069:0.0:0.5931:0.0	.	308	Q9UL41	PNMA3_HUMAN	P	308	ENSP00000359288:R308P;ENSP00000407642:R308P;ENSP00000359286:R308P	ENSP00000359286:R308P	R	+	2	0	PNMA3	151976991	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.044000	0.12023	-0.053000	0.13289	-0.381000	0.06696	CGA	PNMA3	-	NULL	ENSG00000183837		0.512	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA3	HGNC	protein_coding	OTTHUMT00000060946.2	-	0	64	0	G	NM_013364		152226335	1	tier1	-	no_errors	ENST00000370264	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.000	C	C	152226335	G	C	152226335	3	2	133	1	0	0	0	0	1	0	0	0	12194	1058	37	5	925	5	PNMA3	23	152226335	Missense_Mutation	SNP	G	TCGA-LN-A9FP-01A-31D-A387-09	1316994	152226335	3044225	530	34452											
ACTRT2	140625	genome.wustl.edu	37	chr1	2938279	2938279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcacgctttagactcccCggctgtgatttttgacaatg	7	13	9	12	3	0	3	0	2	0	1	2	3	2	3	3	1	0	3	3	1	2	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:2938279C>A	ENST00000378404.2	+	1	234	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	10						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TTAGACTCCCCGGCTGTGATT	0.562																																																	0													52	59	57					1																	2938279		2203	4300	6503	SO:0001583	missense	0			AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.29C>A	1.37:g.2938279C>A	ENSP00000367658:p.Pro10Gln		B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.P10Q	ENST00000378404.2	37	c.29	CCDS45.1	1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847808	0.51164	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.97209	-4.29	5.03	5.03	0.67393	.	0.000000	0.56097	D	0.000033	D	0.97558	0.9200	L	0.42581	1.335	0.48288	D	0.999626	D	0.89917	1.0	D	0.83275	0.996	D	0.98794	1.0737	10	0.87932	D	0	.	16.9328	0.86195	0.0:1.0:0.0:0.0	.	10	Q8TDY3	ACTT2_HUMAN	Q	10	ENSP00000367658:P10Q	ENSP00000367658:P10Q	P	+	2	0	ACTRT2	2928139	0.979000	0.34478	0.056000	0.19401	0.006000	0.05464	3.226000	0.51254	2.331000	0.79229	0.561000	0.74099	CCG	ACTRT2	-	pfam_Actin-related,smart_Actin-related	ENSG00000169717		0.562	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT2	HGNC	protein_coding	OTTHUMT00000001331.1		0	46	0	C	NM_080431		2938279	1			no_errors	ENST00000378404	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.825	A	A	2938279	C	A	2938279	3	1	134	1	0	0	0	0	1	0	0	0	219	652	23	2	31	2	ACTRT2	1	2938279	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09		2938279	246312342	1	34453											
MFN2	9927	genome.wustl.edu	37	chr1	12056272	12056272	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggacaaagttctgccctCtgggattggccacaccacca	9	8	10	14	0	2	0	0	0	2	0	2	2	2	2	4	3	1	1	4	3	1	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:12056272C>G	ENST00000235329.5	+	5	693	c.371C>G	c.(370-372)tCt>tGt	p.S124C	MFN2_ENST00000444836.1_Missense_Mutation_p.S124C	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	124	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)		GTTCTGCCCTCTGGGATTGGC	0.547																																																	0													144	122	129					1																	12056272		2203	4300	6503	SO:0001583	missense	0			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.371C>G	1.37:g.12056272C>G	ENSP00000235329:p.Ser124Cys		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.S124C	ENST00000235329.5	37	c.371	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934145	0.92458	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	D;D	0.95690	-3.78;-3.78	5.63	5.63	0.86233	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.97782	0.9272	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97857	1.0278	10	0.59425	D	0.04	-17.2512	19.0418	0.93002	0.0:1.0:0.0:0.0	.	124	O95140	MFN2_HUMAN	C	124	ENSP00000416338:S124C;ENSP00000235329:S124C	ENSP00000235329:S124C	S	+	2	0	MFN2	11978859	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	4.593000	0.61034	2.808000	0.96608	0.655000	0.94253	TCT	MFN2	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000116688		0.547	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	-	0	58	0	C	NM_014874		12056272	1	tier1	-	no_errors	ENST00000235329	ensembl	human	known	74_37	missense	62.86	13	22	SNP	1.000	G	G	12056272	C	G	12056272	3	3	134	1	0	0	0	0	1	0	0	0	9562	913	32	5	381	5	MFN2	1	12056272	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	9117993	12056272	237194349	2	34454											
MACF1	23499	genome.wustl.edu	37	chr1	39913530	39913530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagcgatctattgaaaGagggcgatcactagatgatg	12	10	12	7	2	2	4	1	2	1	2	3	6	3	4	1	1	1	0	1	1	3	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:39913530G>T	ENST00000372915.3	+	81	19712	c.19625G>T	c.(19624-19626)aGa>aTa	p.R6542I	MACF1_ENST00000361689.2_Missense_Mutation_p.R4584I|MACF1_ENST00000539005.1_Missense_Mutation_p.R4454I|MACF1_ENST00000567887.1_Missense_Mutation_p.R6680I|MACF1_ENST00000564288.1_Missense_Mutation_p.R6643I|MACF1_ENST00000545844.1_Missense_Mutation_p.R4584I|MACF1_ENST00000289893.4_Missense_Mutation_p.R5086I|MACF1_ENST00000317713.7_Missense_Mutation_p.R4584I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6542					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R4584T(1)|p.R5086T(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTATTGAAAGAGGGCGATCA	0.448																																																	2	Substitution - Missense(2)	urinary_tract(2)											98	93	95					1																	39913530		2203	4300	6503	SO:0001583	missense	0			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.19625G>T	1.37:g.39913530G>T	ENSP00000362006:p.Arg6542Ile		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R4584I	ENST00000372915.3	37	c.13751		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.405740|5.405740	0.96051|0.96051	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.61627	.|0.09;0.09;0.09;0.09;0.09;0.09	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.81254|0.81254	0.4784|0.4784	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.998;1.0	T|T	0.82692|0.82692	-0.0331|-0.0331	5|10	.|0.87932	.|D	.|0	.|.	20.6634|20.6634	0.99662|0.99662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|6542;4584	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	N|I	3587|4584;6542;4584;4584;4454;5086	.|ENSP00000439537:R4584I;ENSP00000362006:R6542I;ENSP00000354573:R4584I;ENSP00000313438:R4584I;ENSP00000444364:R4454I;ENSP00000289893:R5086I	.|ENSP00000289893:R5086I	K|R	+|+	3|2	2|0	MACF1|MACF1	39686117|39686117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	9.869000|9.869000	0.99810|0.99810	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	AAG|AGA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0	57	0	G	NM_033044		39913530	1			no_errors	ENST00000317713	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	39913530	G	T	39913530	3	4	134	1	0	0	0	0	1	0	0	0	9180	942	33	3	20212	3	MACF1	1	39913530	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	27857258	39913530	209337091	3	34455											
ZCCHC11	23318	genome.wustl.edu	37	chr1	52940528	52940528	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagaggttaaaataaacttAtcaaacacataatataattc	20	11	3	7	0	1	1	1	0	0	1	2	1	1	1	1	1	2	1	1	1	9	7			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:52940528A>C	ENST00000371544.3	-	13	2965	c.2703T>G	c.(2701-2703)gaT>gaG	p.D901E	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D901E|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	901					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AAATAAACTTATCAAACACAT	0.343																																																	0													56	60	58					1																	52940528		2203	4300	6503	SO:0001583	missense	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2703T>G	1.37:g.52940528A>C	ENSP00000360599:p.Asp901Glu		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.D901E	ENST00000371544.3	37	c.2703	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.381181	0.61845	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.50001	0.8;0.8;0.8;0.76	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	L	0.60455	1.87	0.80722	D	1	P;D	0.63046	0.885;0.992	B;P	0.54544	0.444;0.755	T	0.52931	-0.8509	10	0.33141	T	0.24	.	10.0152	0.42010	0.9242:0.0:0.0758:0.0	.	660;901	E9PKX1;Q5TAX3	.;TUT4_HUMAN	E	901;901;830;660	ENSP00000257177:D901E;ENSP00000360599:D901E;ENSP00000433486:D830E;ENSP00000435256:D660E	ENSP00000257177:D901E	D	-	3	2	ZCCHC11	52713116	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.198000	0.51035	2.071000	0.62044	0.455000	0.32223	GAT	ZCCHC11	-	NULL	ENSG00000134744		0.343	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	-	0	36	0	A	XM_038288		52940528	-1	tier1	-	no_errors	ENST00000257177	ensembl	human	known	74_37	missense	80.00	3	12	SNP	1.000	C	C	52940528	A	C	52940528	3	2	134	1	0	0	0	0	1	0	0	0	17628	446	16	4	2306	4	ZCCHC11	1	52940528	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09	13026998	52940528	196310093	4	34456											
VCAM1	7412	genome.wustl.edu	37	chr1	101198095	101198095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcctgtggagcaggcaGctccctaacggggagctaca	12	6	12	11	1	0	0	0	0	0	0	2	2	2	2	2	4	5	4	2	4	4	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:101198095G>T	ENST00000294728.2	+	7	1748	c.1647G>T	c.(1645-1647)caG>caT	p.Q549H	VCAM1_ENST00000347652.2_Missense_Mutation_p.Q457H|VCAM1_ENST00000370119.4_Missense_Mutation_p.Q487H|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q350H	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	549	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)	GGAGCAGGCAGCTCCCTAACG	0.473																																																	0													45	48	47					1																	101198095		2203	4300	6503	SO:0001583	missense	0			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.1647G>T	1.37:g.101198095G>T	ENSP00000294728:p.Gln549His		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N	p.Q549H	ENST00000294728.2	37	c.1647	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	G	2.825	-0.243897	0.05906	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.57	0.933	0.19471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.051540	0.07249	N	0.865631	T	0.07683	0.0193	L	0.28458	0.855	0.09310	N	1	P;B;P	0.45240	0.854;0.067;0.854	P;B;P	0.59948	0.764;0.103;0.866	T	0.29458	-1.0011	10	0.45353	T	0.12	0.4401	0.7875	0.01051	0.3017:0.1475:0.3776:0.1732	.	487;457;549	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	H	487;457;549;350	ENSP00000359137:Q487H;ENSP00000304611:Q457H;ENSP00000294728:Q549H;ENSP00000359133:Q350H	ENSP00000294728:Q549H	Q	+	3	2	VCAM1	100970683	0.000000	0.05858	0.311000	0.25182	0.087000	0.18053	-0.007000	0.12810	0.378000	0.24764	0.655000	0.94253	CAG	VCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000162692		0.473	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	-	0	50	0	G	NM_001078		101198095	1	tier1	-	no_errors	ENST00000294728	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.016	T	T	101198095	G	T	101198095	3	4	134	1	0	0	0	0	1	0	0	0	17186	962	34	3	1673	3	VCAM1	1	101198095	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	48257567	101198095	148052526	5	34457											
VPS45	11311	genome.wustl.edu	37	chr1	150082617	150082617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcattattgcagacctcaGgatatcattgtgtttgtaat	10	17	7	7	0	3	1	3	0	0	1	3	2	3	2	1	1	1	3	1	1	3	7			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:150082617G>A	ENST00000369130.3	+	14	2046	c.1500G>A	c.(1498-1500)caG>caA	p.Q500Q	VPS45_ENST00000484306.1_3'UTR|VPS45_ENST00000535106.1_3'UTR|VPS45_ENST00000369128.5_Silent_p.Q395Q	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	500					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGACCTCAGGATATCATTG	0.378																																																	0													74	75	75					1																	150082617		2203	4300	6503	SO:0001819	synonymous_variant	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"vacuolar protein sorting 45A (yeast homolog)", "vacuolar protein sorting 45A (yeast)"	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1500G>A	1.37:g.150082617G>A			D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.Q500	ENST00000369130.3	37	c.1500	CCDS944.1	1																																																																																			VPS45	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136631		0.378	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	-	0	66	0	G	NM_007259		150082617	1	tier1	-	no_errors	ENST00000369130	ensembl	human	known	74_37	silent	28.12	69	27	SNP	1.000	A	A	150082617	G	A	150082617	2	1	134	1	0	0	0	0	0	0	0	1	17260	991	35	3		3	VPS45	1	150082617	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	48884522	150082617	99168004	6	34458											
TCHH	7062	genome.wustl.edu	37	chr1	152081784	152081784	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccttttggcttccttttgCtcttctcgctccagctgttc	1	18	7	15	2	2	0	0	0	2	0	6	0	4	0	3	1	2	5	3	1	0	7			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:152081784C>A	ENST00000368804.1	-	2	3908	c.3909G>T	c.(3907-3909)gaG>gaT	p.E1303D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1303	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)			CTTCCTTTTGCTCTTCTCGCT	0.547																																																	0													113	116	115					1																	152081784		1937	4136	6073	SO:0001583	missense	0			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.3909G>T	1.37:g.152081784C>A	ENSP00000357794:p.Glu1303Asp		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.E1303D	ENST00000368804.1	37	c.3909	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340016	0.41398	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	3.89	0.701	0.18104	.	.	.	.	.	T	0.01061	0.0035	N	0.22421	0.69	0.09310	N	1	B	0.18741	0.03	B	0.16289	0.015	T	0.48536	-0.9027	9	0.19147	T	0.46	.	4.0656	0.09859	0.1589:0.5896:0.1548:0.0967	.	1303	Q07283	TRHY_HUMAN	D	1303	ENSP00000357794:E1303D	ENSP00000357794:E1303D	E	-	3	2	TCHH	150348408	0.000000	0.05858	0.006000	0.13384	0.874000	0.50279	0.043000	0.13971	0.123000	0.18342	0.563000	0.77884	GAG	TCHH	-	NULL	ENSG00000159450		0.547	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2		0	25	0	C	NM_007113		152081784	-1			no_errors	ENST00000368804	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.002	A	A	152081784	C	A	152081784	3	1	134	1	0	0	0	0	1	0	0	0	15747	796	28	3	1926	3	TCHH	1	152081784	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	1999167	152081784	97168837	7	34459											
LOR	4014	genome.wustl.edu	37	chr1	153233880	153233880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccggcggcggcggcttctCgggccaggcggtccagtgcc	2	6	17	16	6	1	0	0	0	1	0	4	0	3	0	4	7	1	1	4	7	0	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:153233880C>T	ENST00000368742.3	+	2	512	c.455C>T	c.(454-456)tCg>tTg	p.S152L		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	152					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	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)			ggcggcTTCTCGGGCCAGGCG	0.786																																																	0													1	1	1					1																	153233880		454	1003	1457	SO:0001583	missense	0			M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.455C>T	1.37:g.153233880C>T	ENSP00000357731:p.Ser152Leu		Q5T869|Q5XKF8	Missense_Mutation	SNP	NULL	p.S152L	ENST00000368742.3	37	c.455	CCDS30870.1	1	.	.	.	.	.	.	.	.	.	.	C	8.345	0.829682	0.16749	.	.	ENSG00000203782	ENST00000368742;ENST00000392652	T	0.39056	1.1	3.66	1.53	0.23141	.	0.600408	0.12742	N	0.442984	T	0.24236	0.0587	L	0.36672	1.1	0.09310	N	1	D	0.61080	0.989	P	0.50192	0.634	T	0.04115	-1.0976	10	0.87932	D	0	.	9.5515	0.39313	0.0:0.5837:0.4163:0.0	.	152	P23490	LORI_HUMAN	L	152	ENSP00000357731:S152L	ENSP00000357731:S152L	S	+	2	0	LOR	151500504	0.138000	0.22547	0.187000	0.23214	0.570000	0.35934	0.490000	0.22403	0.692000	0.31613	0.462000	0.41574	TCG	LOR	-	NULL	ENSG00000203782		0.786	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	HGNC	protein_coding	OTTHUMT00000039107.1	-	0	13	0	C	NM_000427		153233880	1	tier1	-	no_errors	ENST00000368742	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.017	T	T	153233880	C	T	153233880	3	4	134	1	0	0	0	0	1	0	0	0	8932	893	31	1	457	1	LOR	1	153233880	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	1152096	153233880	96016741	8	34460											
DENND4B	9909	genome.wustl.edu	37	chr1	153910230	153910230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtggattcactgccctctGgtaaggcaggctcctcggga	7	9	14	11	1	2	0	1	0	1	0	4	3	3	2	2	5	1	3	2	5	1	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:153910230G>T	ENST00000361217.4	-	14	2493	c.2075C>A	c.(2074-2076)cCa>cAa	p.P692Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	692					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)			ACTGCCCTCTGGTAAGGCAGG	0.567																																																	0													155	155	155					1																	153910230		1985	4176	6161	SO:0001583	missense	0			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.2075C>A	1.37:g.153910230G>T	ENSP00000354597:p.Pro692Gln		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P692Q	ENST00000361217.4	37	c.2075	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811506	0.32053	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.07800	3.16;3.16	5.18	4.25	0.50352	.	0.499546	0.21946	N	0.066801	T	0.03739	0.0106	L	0.58810	1.83	0.09310	N	1	B	0.19445	0.036	B	0.20384	0.029	T	0.30238	-0.9985	10	0.30078	T	0.28	-0.1149	11.8729	0.52531	0.0869:0.0:0.9131:0.0	.	692	O75064	DEN4B_HUMAN	Q	692;703	ENSP00000354597:P692Q;ENSP00000357635:P703Q	ENSP00000354597:P692Q	P	-	2	0	DENND4B	152176854	1.000000	0.71417	0.067000	0.19924	0.670000	0.39368	7.473000	0.81007	1.374000	0.46228	0.655000	0.94253	CCA	DENND4B	-	NULL	ENSG00000198837		0.567	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2		0	27	0	G	XM_375806		153910230	-1			no_errors	ENST00000361217	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.018	T	T	153910230	G	T	153910230	3	4	134	1	0	0	0	0	1	0	0	0	4448	1348	47	3	2475	3	DENND4B	1	153910230	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	676350	153910230	95340391	9	34461											
RUSC1	23623	genome.wustl.edu	37	chr1	155295178	155295178	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accaccctctgcccggccctCcacgccctggtggcggacgg	4	5	12	20	4	1	0	0	0	1	0	2	1	2	1	6	5	1	0	6	5	0	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:155295178C>G	ENST00000368352.5	+	5	1756	c.1605C>G	c.(1603-1605)ctC>ctG	p.L535L	RUSC1_ENST00000368354.3_Silent_p.L535L|RUSC1_ENST00000462780.1_3'UTR|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368349.4_Silent_p.L66L|RUSC1_ENST00000368347.4_Silent_p.L125L|RUSC1_ENST00000292254.4_Silent_p.L66L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	535	Interaction with TRAF6.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCCCGGCCCTCCACGCCCTGG	0.701											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													8	9	9					1																	155295178		2187	4270	6457	SO:0001819	synonymous_variant	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1605C>G	1.37:g.155295178C>G		1769	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.L535	ENST00000368352.5	37	c.1605	CCDS41410.1	1																																																																																			RUSC1	-	pfam_Run,pfscan_Run	ENSG00000160753		0.701	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	-	0	22	0	C			155295178	1	tier1	-	no_errors	ENST00000368352	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.501	G	G	155295178	C	G	155295178	2	3	134	1	0	0	0	0	0	0	0	1	13795	842	30	5		5	RUSC1	1	155295178	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	1384948	155295178	93955443	10	34462											
NES	10763	genome.wustl.edu	37	chr1	156641419	156641420	+	Missense_Mutation	DNP	TC	TC	AT																															tcattgccccctgatttattTcttctggagtccacagtggt																										TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:156641419_156641420TC>AT	ENST00000368223.3	-	4	2692_2693	c.2560_2561GA>AT	c.(2560-2562)GAa>ATa	p.E854I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	854	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGATTTATTTCTTCTGGAGTC	0.446																																																	0																																										SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2560_2561delinsAT	1.37:g.156641419_156641420delinsAT	ENSP00000357206:p.Glu854Ile		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.E854V|p.E854K	ENST00000368223.3	37	c.2561|c.2560	CCDS1151.1	1																																																																																			NES	-	NULL	ENSG00000132688		0.446	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2		0	28	0	T|C	NM_006617		156641419|156641420	-1			no_errors	ENST00000368223	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.196|0.295	A|T	AT	156641420	TC	AT	156641419	3	1	134	1	0	0	0	0	1	0	0	0	10376	1783	62	5	2308	5	NES	1	156641419	Missense_Mutation	DNP	TC	TCGA-LN-A9FQ-01A-31D-A387-09	1346241	156641419	92609202	11	34463											
DUSP27	92235	genome.wustl.edu	37	chr1	167096345	167096345	+	Silent	SNP	G	G	T	0	0	1	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	gccagcgggagcattcccctGtctgcgttctggtctgcaga	5	10	13	13	2	3	1	0	0	3	1	4	2	4	2	3	2	4	3	3	2	0	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:167096345G>T	ENST00000361200.2	+	6	2143	c.1977G>T	c.(1975-1977)ctG>ctT	p.L659L	DUSP27_ENST00000443333.1_Silent_p.L659L|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.L659L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	659					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCATTCCCCTGTCTGCGTTCT	0.647																																																	0													45	41	42					1																	167096345		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1977G>T	1.37:g.167096345G>T			A0AUM4|Q9C074	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.L659	ENST00000361200.2	37	c.1977	CCDS30932.1	1																																																																																			DUSP27	-	NULL	ENSG00000198842		0.647	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	-	0	19	0	G	NM_001080426		167096345	1	tier1	-	no_errors	ENST00000271385	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.989	T	T	167096345	G	T	167096345	2	4	134	1	0	0	0	0	0	0	0	1	4838	1364	48	3		3	DUSP27	1	167096345	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	10454926	167096345	82154276	12	34464											
BAT2L2	23215	genome.wustl.edu	37	chr1	171514802	171514802	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	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	agaaagtggatgctctatcaCagtttgatctcaacaattat	14	13	7	7	0	3	2	2	1	2	1	4	3	3	3	0	1	2	2	0	1	5	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:171514802C>T	ENST00000338920.4	+	17	5179	c.4942C>T	c.(4942-4944)Cag>Tag	p.Q1648*	PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.Q1650*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.Q1650*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.Q1648*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1648					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TGCTCTATCACAGTTTGATCT	0.294																																																	0													68	66	67					1																	171514802		2203	4300	6503	SO:0001587	stop_gained	0			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.4942C>T	1.37:g.171514802C>T	ENSP00000343629:p.Gln1648*		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	pfam_BAT2_N	p.Q1650*	ENST00000338920.4	37	c.4948	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	C	47	13.672211	0.99756	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.	.	.	5.5	5.5	0.81552	.	0.000000	0.41500	D	0.000864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4574	0.94900	0.0:1.0:0.0:0.0	.	.	.	.	X	1650;1649;1648;1650;1648;1405	.	ENSP00000343629:Q1648X	Q	+	1	0	PRRC2C	169781426	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.484000	0.81180	2.602000	0.87976	0.644000	0.83932	CAG	PRRC2C	-	NULL	ENSG00000117523		0.294	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4		0	53	0	C	NM_015172		171514802	1			no_errors	ENST00000392078	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	1.000	T	T	171514802	C	T	171514802	4	4	134	1	0	0	0	0	0	1	0	0	1322	479	17	3	5004	3	BAT2L2	1	171514802	Nonsense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	4418457	171514802	77735819	13	34465											
CEP350	9857	genome.wustl.edu	37	chr1	179989590	179989590	+	Missense_Mutation	SNP	A	A	G	1	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	tgttttctctgccagaattcAgaagatgctgggaagctgtg	9	13	12	7	0	2	3	1	0	1	3	3	4	2	4	1	1	3	3	1	1	3	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:179989590A>G	ENST00000367607.3	+	12	3099	c.2681A>G	c.(2680-2682)cAg>cGg	p.Q894R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	894					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						GCCAGAATTCAGAAGATGCTG	0.418																																																	0													98	97	97					1																	179989590		2203	4300	6503	SO:0001583	missense	0			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.2681A>G	1.37:g.179989590A>G	ENSP00000356579:p.Gln894Arg		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.Q894R	ENST00000367607.3	37	c.2681	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224786	0.79576	.	.	ENSG00000135837	ENST00000367607	T	0.13420	2.59	6.02	6.02	0.97574	.	0.000000	0.47093	D	0.000249	T	0.27278	0.0669	L	0.34521	1.04	0.54753	D	0.999985	D;D	0.71674	0.997;0.998	P;D	0.77557	0.879;0.99	T	0.01175	-1.1428	9	.	.	.	.	16.2061	0.82131	1.0:0.0:0.0:0.0	.	894;894	E7EU22;Q5VT06	.;CE350_HUMAN	R	894	ENSP00000356579:Q894R	.	Q	+	2	0	CEP350	178256213	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.655000	0.91098	2.311000	0.77944	0.533000	0.62120	CAG	CEP350	-	NULL	ENSG00000135837		0.418	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2		0	22	0	A	NM_014810		179989590	1			no_errors	ENST00000367607	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	G	G	179989590	A	G	179989590	3	3	134	1	0	0	0	0	1	0	0	0	3261	188	7	4	2723	4	CEP350	1	179989590	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09	8474788	179989590	69261031	14	34466											
CACNA1S	779	genome.wustl.edu	37	chr1	201027607	201027607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaaacacattccaggggtCtccaaagtagccctgggaag	12	7	11	11	0	2	0	1	0	1	0	4	1	3	1	3	3	2	1	3	3	4	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:201027607C>T	ENST00000362061.3	-	28	3764	c.3538G>A	c.(3538-3540)Gac>Aac	p.D1180N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.D1180N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1180				D -> N (in Ref. 1; AAA51902 and 2; AAB37235). {ECO:0000305}.	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)	TTCCAGGGGTCTCCAAAGTAG	0.547																																																	0													85	76	79					1																	201027607		2203	4300	6503	SO:0001583	missense	0			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.3538G>A	1.37:g.201027607C>T	ENSP00000355192:p.Asp1180Asn		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.D1180N	ENST00000362061.3	37	c.3538	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556909	0.86231	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98717	-5.09;-5.09	4.05	4.05	0.47172	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	L	0.53617	1.68	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99525	1.0959	10	0.72032	D	0.01	.	15.4729	0.75453	0.0:1.0:0.0:0.0	.	1180	Q13698	CAC1S_HUMAN	N	1180	ENSP00000355192:D1180N;ENSP00000356307:D1180N	ENSP00000355192:D1180N	D	-	1	0	CACNA1S	199294230	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.628000	0.83189	2.228000	0.72767	0.555000	0.69702	GAC	CACNA1S	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000081248		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	-	0	35	0	C	NM_000069		201027607	-1	tier1	-	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	28.12	46	18	SNP	1.000	T	T	201027607	C	T	201027607	3	4	134	1	0	0	0	0	1	0	0	0	2554	913	32	3	2151	3	CACNA1S	1	201027607	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	21038017	201027607	48223014	15	34467											
NAV1	89796	genome.wustl.edu	37	chr1	201750186	201750186	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggcagaaagtgggctgaGctggtttagtgaatcagagg	11	9	16	5	0	1	4	1	2	0	2	1	4	1	4	0	4	1	4	0	4	3	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr1:201750186G>C	ENST00000367296.4	+	5	1832	c.1412G>C	c.(1411-1413)aGc>aCc	p.S471T	NAV1_ENST00000367300.3_Missense_Mutation_p.S471T|NAV1_ENST00000367302.1_Missense_Mutation_p.S484T|NAV1_ENST00000367295.1_Missense_Mutation_p.S80T|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.S471T|NAV1_ENST00000367297.4_Missense_Mutation_p.S471T	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	471					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						AGTGGGCTGAGCTGGTTTAGT	0.502																																																	0													71	77	75					1																	201750186		2203	4300	6503	SO:0001583	missense	0			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.1412G>C	1.37:g.201750186G>C	ENSP00000356265:p.Ser471Thr		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S471T	ENST00000367296.4	37	c.1412	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.35|11.35	1.612588|1.612588	0.28712|0.28712	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	.|T;T;T;T;T;T	.|0.34072	.|1.38;1.38;1.38;1.38;1.38;1.38	5.88|5.88	0.608|0.608	0.17569|0.17569	.|.	.|0.394955	.|0.31438	.|N	.|0.007650	T|T	0.25531|0.25531	0.0621|0.0621	L|L	0.45228|0.45228	1.405|1.405	0.24176|0.24176	N|N	0.995607|0.995607	.|B;B;B	.|0.33694	.|0.421;0.043;0.101	.|B;B;B	.|0.37601	.|0.254;0.127;0.098	T|T	0.31916|0.31916	-0.9926|-0.9926	5|10	.|0.02654	.|T	.|1	-7.1755|-7.1755	10.624|10.624	0.45497|0.45497	0.4007:0.0:0.5993:0.0|0.4007:0.0:0.5993:0.0	.|.	.|80;471;471	.|Q8NEY1-5;Q8NEY1;Q8NEY1-3	.|.;NAV1_HUMAN;.	D|T	28|484;471;471;471;471;80	.|ENSP00000356271:S484T;ENSP00000356265:S471T;ENSP00000295624:S471T;ENSP00000356266:S471T;ENSP00000356269:S471T;ENSP00000356264:S80T	.|ENSP00000295624:S471T	E|S	+|+	3|2	2|0	NAV1|NAV1	200016809|200016809	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.985000|0.985000	0.73830|0.73830	2.217000|2.217000	0.42880|0.42880	-0.137000|-0.137000	0.11455|0.11455	-0.136000|-0.136000	0.14681|0.14681	GAG|AGC	NAV1	-	NULL	ENSG00000134369		0.502	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	-	0	49	0	G	NM_020443		201750186	1	tier1	-	no_errors	ENST00000367296	ensembl	human	known	74_37	missense	9.59	66	7	SNP	0.976	C	C	201750186	G	C	201750186	3	2	134	1	0	0	0	0	1	0	0	0	10221	971	34	5	1487	5	NAV1	1	201750186	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	722579	201750186	47500435	16	34468											
MAP4K3	8491	genome.wustl.edu	37	chr2	39553377	39553377	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagatcacagagttgattgTaaccccccttcctctcaaca	12	10	6	13	0	2	3	2	1	1	2	4	4	3	3	4	0	2	2	4	0	2	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:39553377T>C	ENST00000263881.3	-	9	896	c.572A>G	c.(571-573)tAc>tGc	p.Y191C	MAP4K3_ENST00000437545.1_Missense_Mutation_p.Y128C|MAP4K3_ENST00000341681.5_Missense_Mutation_p.Y191C|MAP4K3_ENST00000536018.1_5'Flank|RP11-449G16.1_ENST00000609671.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GAGTTGATTGTAACCCCCCTT	0.428																																																	0													121	123	122					2																	39553377		2203	4300	6503	SO:0001583	missense	0			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.572A>G	2.37:g.39553377T>C	ENSP00000263881:p.Tyr191Cys		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.Y191C	ENST00000263881.3	37	c.572	CCDS1803.1	2	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579859	0.86645	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.31510	1.49;2.11;1.49	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);	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	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	T	0.65738	-0.6095	9	.	.	.	.	15.9136	0.79491	0.0:0.0:0.0:1.0	.	191;191	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	C	191;128;191	ENSP00000263881:Y191C;ENSP00000416958:Y128C;ENSP00000345434:Y191C	.	Y	-	2	0	MAP4K3	39406881	1.000000	0.71417	0.985000	0.45067	0.878000	0.50629	7.848000	0.86902	2.154000	0.67381	0.477000	0.44152	TAC	MAP4K3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000011566		0.428	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K3	HGNC	protein_coding	OTTHUMT00000219966.2	-	0	31	0	T	NM_003618		39553377	-1	tier1	-	no_errors	ENST00000263881	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	C	C	39553377	T	C	39553377	3	2	134	1	0	0	0	0	1	0	0	0	9299	1638	57	4	2216	4	MAP4K3	2	39553377	Missense_Mutation	SNP	T	TCGA-LN-A9FQ-01A-31D-A387-09		39553377	203645996	17	34469											
XPO1	7514	genome.wustl.edu	37	chr2	61725817	61725817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcactgtaccttataaatCaatgtgctgattaatttggt	12	17	6	6	0	2	1	2	1	0	0	2	1	2	1	1	1	2	2	1	1	6	6			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:61725817C>G	ENST00000401558.2	-	9	1477	c.750G>C	c.(748-750)ttG>ttC	p.L250F	XPO1_ENST00000406957.1_Missense_Mutation_p.L250F|XPO1_ENST00000404992.2_Missense_Mutation_p.L250F	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	250	Necessary for HTLV-1 Rex-mediated mRNA export.				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)			CCTTATAAATCAATGTGCTGA	0.358			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0													80	82	82					2																	61725817		2203	4300	6503	SO:0001583	missense	0			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.750G>C	2.37:g.61725817C>G	ENSP00000384863:p.Leu250Phe		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L250F	ENST00000401558.2	37	c.750	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405669	0.62288	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.71103	-0.54;-0.54;-0.54	5.62	1.69	0.24217	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.83022	0.5164	M	0.93550	3.43	0.54753	D	0.999982	D	0.89917	1.0	D	0.77557	0.99	T	0.76828	-0.2815	10	0.45353	T	0.12	-8.9333	2.2426	0.04024	0.1262:0.1388:0.1314:0.6037	.	250	O14980	XPO1_HUMAN	F	250	ENSP00000384863:L250F;ENSP00000385942:L250F;ENSP00000385559:L250F	ENSP00000384863:L250F	L	-	3	2	XPO1	61579321	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	1.958000	0.40402	0.041000	0.15688	-0.312000	0.09012	TTG	XPO1	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000082898		0.358	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	-	0	45	0	C	NM_003400		61725817	-1	tier1	-	no_errors	ENST00000401558	ensembl	human	known	74_37	missense	40.00	33	22	SNP	1.000	G	G	61725817	C	G	61725817	3	3	134	1	0	0	0	0	1	0	0	0	17494	825	29	5	2533	5	XPO1	2	61725817	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	22172440	61725817	181473556	18	34470											
MCEE	84693	genome.wustl.edu	37	chr2	71337211	71337212	+	Frame_Shift_Ins	INS	-	-	T																															cacttagactgcggatcttcINSttttttttcaaatccatcac																										TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:71337211_71337212insT	ENST00000244217.5	-	3	436_437	c.419_420insA	c.(418-420)aagfs	p.K140fs	MCEE_ENST00000462609.2_5'UTR	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	140	Poly-Lys.				cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)	p.K140N(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCGGATCTTCTTTTTTTTCAA	0.361																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)																																								SO:0001589	frameshift_variant	0			AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"glyoxalase domain containing 2"	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.420dupA	2.37:g.71337219_71337219dupT	ENSP00000244217:p.Lys140fs		Q53TP1|Q8WW63	Frame_Shift_Ins	INS	pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase	p.K141fs	ENST00000244217.5	37	c.420_419	CCDS1915.1	2																																																																																			MCEE	-	pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase	ENSG00000124370		0.361	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCEE	HGNC	protein_coding	OTTHUMT00000251917.3		0	47	0	-	NM_032601		71337212	-1	tier1		no_errors	ENST00000244217	ensembl	human	known	74_37	frame_shift_ins	8.89	41	4	INS	1.000:1.000	T	T	71337212	-	T	71337211	7	5	134	1	0	1	1	0	0	0	0	0	9415	912	32	0	114	0	MCEE	2	71337211	Frame_Shift_Ins	INS	-	TCGA-LN-A9FQ-01A-31D-A387-09	9611394	71337211	171862162	19	34471											
EXOC6B	23233	genome.wustl.edu	37	chr2	72945395	72945395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcttacttgaggcaggtagGtatgctctagatgttccaga	9	12	13	7	0	1	3	0	1	1	2	2	3	2	3	1	4	2	6	1	4	4	6			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:72945395G>T	ENST00000272427.6	-	6	636	c.506C>A	c.(505-507)aCc>aAc	p.T169N	EXOC6B_ENST00000410104.1_Missense_Mutation_p.T169N	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	169					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						AGGCAGGTAGGTATGCTCTAG	0.423																																																	0													123	121	122					2																	72945395		1944	4145	6089	SO:0001583	missense	0			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.506C>A	2.37:g.72945395G>T	ENSP00000272427:p.Thr169Asn		B8ZZY3	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.T169N	ENST00000272427.6	37	c.506	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556585	0.45487	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	D;D	0.99571	-6.19;-6.19	5.39	3.48	0.39840	.	0.109670	0.64402	D	0.000010	D	0.98723	0.9571	M	0.70275	2.135	0.48830	D	0.999716	B;P	0.35745	0.019;0.518	B;B	0.41619	0.017;0.361	D	0.97755	1.0217	10	0.19147	T	0.46	.	9.5096	0.39069	0.0802:0.1453:0.7745:0.0	.	169;169	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	N	169	ENSP00000272427:T169N;ENSP00000386698:T169N	ENSP00000272427:T169N	T	-	2	0	EXOC6B	72798903	0.993000	0.37304	1.000000	0.80357	0.988000	0.76386	2.341000	0.43983	2.506000	0.84524	0.563000	0.77884	ACC	EXOC6B	-	pirsf_Sec15	ENSG00000144036		0.423	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	-	0	58	0	G	XM_039570		72945395	-1	tier1	-	no_errors	ENST00000272427	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.979	T	T	72945395	G	T	72945395	3	4	134	1	0	0	0	0	1	0	0	0	5325	1261	44	3	1997	3	EXOC6B	2	72945395	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	1608184	72945395	170253978	20	34472											
NAT8	9027	genome.wustl.edu	37	chr2	73868257	73868257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacttcactgtagccctggtCccgggcaaactggaggacag	10	7	12	12	1	1	0	1	0	0	0	2	2	2	2	2	4	3	2	2	4	3	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:73868257C>T	ENST00000272425.3	-	2	648	c.499G>A	c.(499-501)Gac>Aac	p.D167N		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						TAGCCCTGGTCCCGGGCAAAC	0.572																																																	0													73	74	74					2																	73868257		2203	4300	6503	SO:0001583	missense	0			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.499G>A	2.37:g.73868257C>T	ENSP00000272425:p.Asp167Asn			Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.D167N	ENST00000272425.3	37	c.499	CCDS1926.1	2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517476	0.85495	.	.	ENSG00000144035	ENST00000272425	T	0.21932	1.98	3.86	2.97	0.34412	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.460721	0.23945	N	0.043016	T	0.27027	0.0662	N	0.25286	0.73	0.32721	N	0.510288	D	0.55605	0.972	P	0.60541	0.876	T	0.33471	-0.9867	10	0.59425	D	0.04	-29.1916	11.9758	0.53091	0.0:0.8229:0.1771:0.0	.	167	Q9UHE5	NAT8_HUMAN	N	167	ENSP00000272425:D167N	ENSP00000272425:D167N	D	-	1	0	NAT8	73721765	0.003000	0.15002	0.101000	0.21167	0.257000	0.26127	1.323000	0.33701	0.920000	0.36970	0.644000	0.83932	GAC	NAT8	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000144035		0.572	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8	HGNC	protein_coding	OTTHUMT00000327854.1	-	0	63	0	C	NM_003960		73868257	-1	tier1	-	no_errors	ENST00000272425	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.917	T	T	73868257	C	T	73868257	3	4	134	1	0	0	0	0	1	0	0	0	10217	855	30	3	188	3	NAT8	2	73868257	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	922862	73868257	169331116	21	34473											
DCTN1	1639	genome.wustl.edu	37	chr2	74595885	74595885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacgaggcatgagcaacagCaccagaacgcagtcatggtc	14	4	12	11	2	1	3	1	1	0	2	2	4	1	3	1	2	4	4	1	2	2	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:74595885C>T	ENST00000361874.3	-	16	2141	c.1824G>A	c.(1822-1824)gtG>gtA	p.V608V	DCTN1_ENST00000407639.2_Silent_p.V474V|DCTN1_ENST00000409868.1_Silent_p.V591V|DCTN1_ENST00000409567.3_Silent_p.V588V|DCTN1_ENST00000394003.3_Silent_p.V601V|DCTN1_ENST00000409240.1_Silent_p.V571V|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409438.1_Silent_p.V474V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	608					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGAGCAACAGCACCAGAACGC	0.527																																																	0													162	127	139					2																	74595885		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1824G>A	2.37:g.74595885C>T			A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain	p.V608	ENST00000361874.3	37	c.1824	CCDS1939.1	2																																																																																			DCTN1	-	pfam_Dynactin,superfamily_P-loop_NTPase	ENSG00000204843		0.527	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	-	0	48	0	C	NM_004082		74595885	-1	tier1	-	no_errors	ENST00000361874	ensembl	human	known	74_37	silent	10.61	59	7	SNP	0.996	T	T	74595885	C	T	74595885	2	4	134	1	0	0	0	0	0	0	0	1	4315	697	25	3		3	DCTN1	2	74595885	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	727628	74595885	168603488	22	34474											
C2orf76	130355	genome.wustl.edu	37	chr2	120069281	120069282	+	Splice_Site	INS	-	-	A																															caacacaagttcatttgtctINSaaaaaaaaaaaagaaaatct																								rs112925717|rs200673901	byFrequency	TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:120069281_120069282insA	ENST00000409466.2	-	6	744		c.e6-2		C2orf76_ENST00000409523.1_Splice_Site|C2orf76_ENST00000334816.7_Splice_Site|C2orf76_ENST00000409877.1_Splice_Site			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76											large_intestine(1)|lung(3)|pancreas(1)	5						TTCATTTGTCTAAAAAAAAAAA	0.401																																																	0																																										SO:0001630	splice_region_variant	0				CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.223-2->T	2.37:g.120069292_120069292dupA			B7ZLS8|Q4VC35	Splice_Site	INS	-	e4-2	ENST00000409466.2	37	c.223-3_223-2	CCDS42739.1	2																																																																																			C2orf76	-	-	ENSG00000186132		0.401	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf76	HGNC	protein_coding	OTTHUMT00000330582.2		0	28	0	-	NM_001017927	Intron	120069282	-1	tier1		no_errors	ENST00000334816	ensembl	human	known	74_37	splice_site_ins	11.76	45	6	INS	0.984:0.405	A	A	120069282	-	A	120069281	8	5	134	1	0	1	1	0	0	0	1	0	2200	1536	53	0	167	0	C2orf76	2	120069281	Splice_Site	INS	-	TCGA-LN-A9FQ-01A-31D-A387-09	45473396	120069281	123130092	23	34475											
GRB14	2888	genome.wustl.edu	37	chr2	165365287	165365288	+	Frame_Shift_Ins	INS	-	-	T																															tagttagtcggtgctccatgINStttttttttgcctgccagtg																										TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:165365287_165365288insT	ENST00000263915.3	-	7	1429_1430	c.891_892insA	c.(889-894)aaacatfs	p.H298fs	GRB14_ENST00000543549.1_Frame_Shift_Ins_p.H211fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	298	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGTGCTCCATGTTTTTTTTTGC	0.371																																																	2	Deletion - Frameshift(2)	ovary(1)|breast(1)																																								SO:0001589	frameshift_variant	0				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.892dupA	2.37:g.165365296_165365296dupT	ENSP00000263915:p.His298fs		B7Z7F9|Q7Z6I1	Frame_Shift_Ins	INS	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.H297fs	ENST00000263915.3	37	c.892_891	CCDS2222.1	2																																																																																			GRB14	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115290		0.371	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2		0	63	0	-			165365288	-1	tier1		no_errors	ENST00000263915	ensembl	human	known	74_37	frame_shift_ins	9.26	49	5	INS	0.105:0.015	T	T	165365288	-	T	165365287	7	5	134	1	0	1	1	0	0	0	0	0	6784	1377	48	0	762	0	GRB14	2	165365287	Frame_Shift_Ins	INS	-	TCGA-LN-A9FQ-01A-31D-A387-09	45296006	165365287	77834086	24	34476											
TTN	7273	genome.wustl.edu	37	chr2	179596473	179596473	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacctcattggtcaccCgacactggtattcgccagca	8	9	8	16	2	2	0	2	0	0	0	3	1	2	0	4	2	2	2	4	2	1	3	rs200018866		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:179596473C>G	ENST00000591111.1	-	56	16402	c.16178G>C	c.(16177-16179)cGg>cCg	p.R5393P	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R5710P|TTN_ENST00000342992.6_Missense_Mutation_p.R4466P|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12212	Ig-like 34.				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)			ATTGGTCACCCGACACTGGTA	0.488																																																	0													99	100	100					2																	179596473		1951	4145	6096	SO:0001583	missense	0			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.16178G>C	2.37:g.179596473C>G	ENSP00000465570:p.Arg5393Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R4466P	ENST00000591111.1	37	c.13397		2	.	.	.	.	.	.	.	.	.	.	C	9.554	1.116672	0.20795	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81754	0.4889	M	0.82716	2.605	0.80722	D	1	D	0.60575	0.988	P	0.57057	0.812	D	0.83528	0.0089	9	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	5393	Q8WZ42	TITIN_HUMAN	P	4466	ENSP00000343764:R4466P	ENSP00000343764:R4466P	R	-	2	0	TTN	179304718	0.617000	0.27043	1.000000	0.80357	0.999000	0.98932	0.882000	0.28186	2.826000	0.97356	0.655000	0.94253	CGG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	18	0	C	NM_133378		179596473	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	G	G	179596473	C	G	179596473	3	3	134	1	0	0	0	0	1	0	0	0	16784	652	23	5	87620	5	TTN	2	179596473	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	14231186	179596473	63602900	25	34477											
STK17B	9262	genome.wustl.edu	37	chr2	197021278	197021278	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgtaaaatttctgctcGacaatcctgtcctcttcttc	7	16	5	13	2	3	0	0	0	3	0	8	1	5	0	2	0	1	2	2	0	3	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:197021278G>T	ENST00000263955.4	-	3	506	c.220C>A	c.(220-222)Cga>Aga	p.R74R	RP11-347P5.1_ENST00000606818.1_RNA|STK17B_ENST00000409228.1_Silent_p.R74R	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|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)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATTTCTGCTCGACAATCCTGT	0.363																																																	0													98	92	94					2																	197021278		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"death-associated protein kinase-related 2"	604727	"serine/threonine kinase 17b (apoptosis-inducing)"			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.220C>A	2.37:g.197021278G>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R74	ENST00000263955.4	37	c.220	CCDS2315.1	2																																																																																			STK17B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000081320		0.363	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17B	HGNC	protein_coding	OTTHUMT00000256092.2	-	0	48	0	G			197021278	-1	tier1	-	no_errors	ENST00000263955	ensembl	human	known	74_37	silent	14.29	24	4	SNP	1.000	T	T	197021278	G	T	197021278	2	4	134	1	0	0	0	0	0	0	0	1	15338	1066	37	2		2	STK17B	2	197021278	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	17424805	197021278	46178095	26	34478											
FN1	2335	genome.wustl.edu	37	chr2	216249666	216249666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggctggtgggggtcgcaGcaacaacttccaggtccctc	7	8	14	12	1	0	0	0	0	0	0	4	0	2	0	2	5	3	4	2	5	3	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:216249666G>A	ENST00000359671.1	-	28	4638	c.4373C>T	c.(4372-4374)gCt>gTt	p.A1458V	FN1_ENST00000356005.4_Missense_Mutation_p.A1458V|FN1_ENST00000345488.5_Missense_Mutation_p.A1458V|FN1_ENST00000421182.1_Missense_Mutation_p.A1458V|FN1_ENST00000446046.1_Missense_Mutation_p.A1458V|FN1_ENST00000354785.4_Missense_Mutation_p.A1549V|FN1_ENST00000443816.1_Missense_Mutation_p.A1458V|FN1_ENST00000432072.2_Missense_Mutation_p.A1549V|FN1_ENST00000336916.4_Missense_Mutation_p.A1458V|FN1_ENST00000346544.3_Missense_Mutation_p.A1458V|FN1_ENST00000357009.2_Missense_Mutation_p.A1458V|FN1_ENST00000323926.6_Missense_Mutation_p.A1549V|FN1_ENST00000357867.4_Missense_Mutation_p.A1458V|FN1_ENST00000490833.1_5'Flank			P02751	FINC_HUMAN	fibronectin 1	1458	Cell-attachment.|Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	GGGGGTCGCAGCAACAACTTC	0.438																																																	0													58	59	58					2																	216249666		2203	4300	6503	SO:0001583	missense	0				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.4373C>T	2.37:g.216249666G>A	ENSP00000352696:p.Ala1458Val		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	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.A1549V	ENST00000359671.1	37	c.4646		2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977940	0.74360	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	6.02	6.02	0.97574	.	0.165377	0.42682	D	0.000673	T	0.66157	0.2761	L	0.38953	1.18	0.22034	N	0.999408	D;B;D;D;D;B;P;D;D;P	0.71674	0.989;0.396;0.978;0.989;0.974;0.183;0.949;0.996;0.998;0.712	P;B;P;P;P;B;P;D;D;B	0.70716	0.646;0.108;0.545;0.631;0.681;0.039;0.475;0.97;0.97;0.204	T	0.60156	-0.7318	10	0.59425	D	0.04	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1549;1549;1458;1458;1458;1458;1459;1458;1458;1549	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	V	1458;1549;1458;1458;1549;1459;1458;1458;1458;1458;1458;1458;1549;1458;265	ENSP00000394423:A1458V;ENSP00000323534:A1549V;ENSP00000338200:A1458V;ENSP00000350534:A1458V;ENSP00000346839:A1549V;ENSP00000352696:A1458V;ENSP00000265312:A1458V;ENSP00000273049:A1458V;ENSP00000349509:A1458V;ENSP00000410422:A1458V;ENSP00000415018:A1458V;ENSP00000399538:A1549V;ENSP00000348285:A1458V;ENSP00000416139:A265V	ENSP00000265313:A1459V	A	-	2	0	FN1	215957911	0.993000	0.37304	0.361000	0.25849	0.479000	0.33129	4.290000	0.59019	2.865000	0.98341	0.655000	0.94253	GCT	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.438	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0	65	0	G	NM_212476		216249666	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.802	A	A	216249666	G	A	216249666	3	1	134	1	0	0	0	0	1	0	0	0	5984	971	34	3	2859	3	FN1	2	216249666	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	19228388	216249666	26949707	27	34479											
AAMP	14	genome.wustl.edu	37	chr2	219131708	219131708	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagtcacagagtctttatgGccttcaaagaaaagtgggca	14	9	10	8	0	3	2	2	0	1	2	3	2	3	2	1	2	0	1	1	2	5	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:219131708G>T	ENST00000248450.4	-	4	566	c.396C>A	c.(394-396)ggC>ggA	p.G132G	AAMP_ENST00000420660.1_Splice_Site_p.G113G|AAMP_ENST00000444053.1_Splice_Site_p.G133G			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	132					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCTTTATGGCCTTCAAAGA	0.507																																																	0													64	68	66					2																	219131708		2203	4300	6503	SO:0001630	splice_region_variant	0			AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.395-1C>A	2.37:g.219131708G>T			Q8WUJ9|Q96H92	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G132	ENST00000248450.4	37	c.396	CCDS33378.1	2																																																																																			AAMP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000127837		0.507	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AAMP	HGNC	protein_coding	OTTHUMT00000338756.1	-	0	39	0	G	NM_001087	Silent	219131708	-1	tier1	-	no_errors	ENST00000248450	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.995	T	T	219131708	G	T	219131708	5	4	134	1	0	0	0	0	0	0	1	0	17	1217	42	3	940	3	AAMP	2	219131708	Splice_Site	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	2882042	219131708	24067665	28	34480											
COL6A3	1293	genome.wustl.edu	37	chr2	238277596	238277596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgagcctcaggcgccGtatggcgtccagcaccgggg	5	6	14	16	4	2	1	1	1	1	0	3	1	3	1	5	4	2	2	5	4	1	1	rs144223596	byFrequency	TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:238277596G>A	ENST00000295550.4	-	10	4962	c.4510C>T	c.(4510-4512)Cgg>Tgg	p.R1504W	COL6A3_ENST00000472056.1_Missense_Mutation_p.R897W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1298W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1298W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1304W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1303W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1504	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCAGGCGCCGTATGGCGTCC	0.542																																																	0								G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	46	48	47		4510,2689,3892	5.4	0.2	2	dbSNP_134	47	4,8596	4.3+/-15.6	0,4,4296	yes	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	101,101,101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	1504/3178,897/2571,1298/2972	238277596	4,13002	2203	4300	6503	SO:0001583	missense	0			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.4510C>T	2.37:g.238277596G>A	ENSP00000295550:p.Arg1504Trp		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R1504W	ENST00000295550.4	37	c.4510	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404394	0.25378	0.0	4.65E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.36	5.36	0.76844	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000059	D	0.92691	0.7677	M	0.93898	3.47	0.42024	D	0.990996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.963	D	0.94476	0.7689	10	0.87932	D	0	.	19.1091	0.93310	0.0:0.0:1.0:0.0	.	897;1298;1504	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	W	1504;1303;1298;897;1298;1304	ENSP00000295550:R1504W;ENSP00000315609:R1303W;ENSP00000315873:R1298W;ENSP00000418285:R897W;ENSP00000386844:R1298W;ENSP00000295546:R1304W	ENSP00000295550:R1504W	R	-	1	2	COL6A3	237942335	0.952000	0.32445	0.212000	0.23672	0.173000	0.22820	2.741000	0.47426	2.512000	0.84698	0.655000	0.94253	CGG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0	29	0	G	NM_004369		238277596	-1			no_errors	ENST00000295550	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.568	A	A	238277596	G	A	238277596	3	1	134	1	0	0	0	0	1	0	0	0	3708	1144	40	1	5163	1	COL6A3	2	238277596	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	19145888	238277596	4921777	29	34481											
SEPT2	4735	genome.wustl.edu	37	chr2	242287602	242287602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcttgctggaaaaagaagCtgaggtaagtaggaaagtac	16	8	13	4	0	1	2	0	1	1	1	1	5	1	4	0	3	3	5	0	3	7	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr2:242287602C>T	ENST00000391973.2	+	11	1508	c.980C>T	c.(979-981)gCt>gTt	p.A327V	SEPT2_ENST00000401990.1_Missense_Mutation_p.A337V|SEPT2_ENST00000360051.3_Missense_Mutation_p.A327V|SEPT2_ENST00000391971.2_Missense_Mutation_p.A327V|SEPT2_ENST00000407971.1_Missense_Mutation_p.A287V|SEPT2_ENST00000402092.2_Missense_Mutation_p.A327V	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	327					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)		GAAAAAGAAGCTGAGGTAAGT	0.403																																																	0													161	161	161					2																	242287602		2203	4300	6503	SO:0001583	missense	0			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.980C>T	2.37:g.242287602C>T	ENSP00000375834:p.Ala327Val		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin2	p.A327V	ENST00000391973.2	37	c.980	CCDS2548.1	2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092987	0.76756	.	.	ENSG00000168385	ENST00000391973;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.63;0.62;0.84	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.60845	1.875	0.80722	D	1	B;B;B	0.24651	0.081;0.108;0.077	B;B;B	0.21546	0.034;0.028;0.035	T	0.46965	-0.9153	10	0.59425	D	0.04	.	19.9456	0.97181	0.0:1.0:0.0:0.0	.	362;287;327	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	V	327;327;327;337;287;327;362;154	ENSP00000375834:A327V;ENSP00000353157:A327V;ENSP00000375832:A327V;ENSP00000385109:A337V;ENSP00000384525:A287V;ENSP00000385172:A327V;ENSP00000408296:A154V	ENSP00000353157:A327V	A	+	2	0	SEPT2	241936275	1.000000	0.71417	0.997000	0.53966	0.849000	0.48306	7.038000	0.76537	2.782000	0.95742	0.655000	0.94253	GCT	SEPT2	-	pirsf_Septin	ENSG00000168385		0.403	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT2	HGNC	protein_coding	OTTHUMT00000323177.3	-	0	63	0	C	NM_006155		242287602	1	tier1	-	no_errors	ENST00000360051	ensembl	human	known	74_37	missense	16.00	20	4	SNP	1.000	T	T	242287602	C	T	242287602	3	4	134	1	0	0	0	0	1	0	0	0	14109	797	28	3	1018	3	SEPT2	2	242287602	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	4010006	242287602	911771	30	34482											
TATDN2	9797	genome.wustl.edu	37	chr3	10291031	10291031	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcgcgttctggagggccCagcagccccaagcgcctgaa	7	5	14	15	4	1	1	0	1	1	0	2	2	1	2	4	2	3	2	4	2	2	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:10291031C>A	ENST00000287652.4	+	2	1198	c.147C>A	c.(145-147)ccC>ccA	p.P49P	RP11-438J1.1_ENST00000450534.1_5'Flank|TATDN2_ENST00000448281.2_Silent_p.P49P	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	49					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGGAGGGCCCAGCAGCCCCA	0.667																																																	0													50	61	57					3																	10291031		2202	4299	6501	SO:0001819	synonymous_variant	0			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.147C>A	3.37:g.10291031C>A			Q3MIL9|Q5BKU0	Silent	SNP	pfam_TatD_family	p.P49	ENST00000287652.4	37	c.147	CCDS33698.1	3																																																																																			TATDN2	-	NULL	ENSG00000157014		0.667	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1		0	115	0	C	XM_376203		10291031	1			no_errors	ENST00000287652	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.491	A	A	10291031	C	A	10291031	2	1	134	1	0	0	0	0	0	0	0	1	15639	581	21	3		3	TATDN2	3	10291031	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09		10291031	187731399	31	34483											
NR2C2	7182	genome.wustl.edu	37	chr3	15045465	15045465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagataatctccaccgactCtgctgtagcctcacctcagc	9	9	6	17	1	4	1	2	0	2	1	5	2	4	1	5	0	3	2	5	0	2	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:15045465C>G	ENST00000425241.1	+	2	406	c.44C>G	c.(43-45)tCt>tGt	p.S15C	NR2C2_ENST00000393102.3_Missense_Mutation_p.S15C|NR2C2_ENST00000406272.2_Missense_Mutation_p.S15C|NR2C2_ENST00000323373.6_Missense_Mutation_p.S15C			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	15					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCACCGACTCTGCTGTAGCC	0.552																																																	0													129	106	114					3																	15045465		2203	4300	6503	SO:0001583	missense	0			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.44C>G	3.37:g.15045465C>G	ENSP00000388387:p.Ser15Cys		A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.S15C	ENST00000425241.1	37	c.44		3	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809835	0.90707	.	.	ENSG00000177463	ENST00000413118;ENST00000425241;ENST00000435454;ENST00000323373;ENST00000393102;ENST00000437120;ENST00000406272	D;D;D;D;D	0.94793	-3.47;-3.52;-3.47;-3.43;-3.47	5.31	5.31	0.75309	.	0.292038	0.39210	N	0.001435	D	0.94205	0.8140	L	0.40543	1.245	0.43218	D	0.995093	D;D	0.65815	0.995;0.983	P;B	0.52672	0.706;0.431	D	0.93650	0.6972	10	0.39692	T	0.17	.	18.5771	0.91159	0.0:1.0:0.0:0.0	.	15;15	P49116;F2YGU2	NR2C2_HUMAN;.	C	15	ENSP00000388387:S15C;ENSP00000320447:S15C;ENSP00000376814:S15C;ENSP00000401807:S15C;ENSP00000384463:S15C	ENSP00000320447:S15C	S	+	2	0	NR2C2	15020469	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	6.350000	0.73017	2.493000	0.84123	0.563000	0.77884	TCT	NR2C2	-	NULL	ENSG00000177463		0.552	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	-	0	58	0	C	NM_003298		15045465	1	tier1	-	no_errors	ENST00000323373	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	G	G	15045465	C	G	15045465	3	3	134	1	0	0	0	0	1	0	0	0	10662	913	32	5	46	5	NR2C2	3	15045465	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	4754434	15045465	182976965	32	34484											
NBEAL2	23218	genome.wustl.edu	37	chr3	47049918	47049918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagctcagcgtgggaacGtcctggggcccaggtatggg	8	6	17	10	2	1	1	1	0	0	1	2	2	2	2	2	5	3	2	2	5	2	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:47049918G>A	ENST00000450053.3	+	51	8044	c.7865G>A	c.(7864-7866)cGt>cAt	p.R2622H	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R2438H|NBEAL2_ENST00000383740.2_Missense_Mutation_p.R871H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2622					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)		GCGTGGGAACGTCCTGGGGCC	0.612																																																	0													46	47	47					3																	47049918		2062	4186	6248	SO:0001583	missense	0			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.7865G>A	3.37:g.47049918G>A	ENSP00000415034:p.Arg2622His		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2622H	ENST00000450053.3	37	c.7865	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.95|19.95	3.921393|3.921393	0.73213|0.73213	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000416683	T;T;T|.	0.17691|.	2.26;2.26;2.26|.	5.15|5.15	5.15|5.15	0.70609|0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.178828|.	0.47852|.	D|.	0.000211|.	T|T	0.60830|0.60830	0.2299|0.2299	L|L	0.60455|0.60455	1.87|1.87	0.32937|0.32937	D|D	0.517852|0.517852	B;B|.	0.31752|.	0.067;0.338|.	B;B|.	0.31390|.	0.019;0.129|.	T|T	0.68108|0.68108	-0.5496|-0.5496	10|5	0.51188|.	T|.	0.08|.	.|.	13.9938|13.9938	0.64382|0.64382	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2438;2622|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	H|I	2438;871;2622;565|1910	ENSP00000292309:R2438H;ENSP00000373246:R871H;ENSP00000415034:R2622H|.	ENSP00000292309:R2438H|.	R|V	+|+	2|1	0|0	NBEAL2|NBEAL2	47024922|47024922	0.998000|0.998000	0.40836|0.40836	0.707000|0.707000	0.30419|0.30419	0.997000|0.997000	0.91878|0.91878	4.629000|4.629000	0.61290|0.61290	2.669000|2.669000	0.90835|0.90835	0.561000|0.561000	0.74099|0.74099	CGT|GTC	NBEAL2	-	superfamily_WD40_repeat_dom	ENSG00000160796		0.612	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	-	0	59	0	G	XM_291064		47049918	1	tier1	-	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	54.29	16	19	SNP	0.429	A	A	47049918	G	A	47049918	3	1	134	1	0	0	0	0	1	0	0	0	10227	1145	40	1	8067	1	NBEAL2	3	47049918	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	32004453	47049918	150972512	33	34485											
WDR52	55779	genome.wustl.edu	37	chr3	113045421	113045421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatagagtgccttttcttGctcctggagtttggtgattt	6	17	11	7	0	1	2	0	1	1	1	2	3	2	3	2	2	3	3	2	2	1	6			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:113045421G>T	ENST00000393845.2	-	28	4453	c.4387C>A	c.(4387-4389)Caa>Aaa	p.Q1463K	WDR52_ENST00000308346.6_Missense_Mutation_p.Q66K	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GCCTTTTCTTGCTCCTGGAGT	0.338																																																	0													212	164	179					3																	113045421		692	1591	2283	SO:0001583	missense	0																														ENST00000393845.2:c.4387C>A	3.37:g.113045421G>T	ENSP00000377428:p.Gln1463Lys			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1463K	ENST00000393845.2	37	c.4387	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.26|10.26	1.300146|1.300146	0.23650|0.23650	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000465636|ENST00000393845;ENST00000308346	.|T;T	.|0.52057	.|2.63;0.68	5.31|5.31	4.44|4.44	0.53790|0.53790	.|.	.|0.348517	.|0.32314	.|N	.|0.006265	T|T	0.27765|0.27765	0.0683|0.0683	L|L	0.31420|0.31420	0.93|0.93	0.29336|0.29336	N|N	0.866333|0.866333	.|B	.|0.11235	.|0.004	.|B	.|0.15052	.|0.012	T|T	0.29212|0.29212	-1.0019|-1.0019	5|10	.|0.02654	.|T	.|1	-22.4831|-22.4831	6.619|6.619	0.22792|0.22792	0.0703:0.129:0.6672:0.1335|0.0703:0.129:0.6672:0.1335	.|.	.|1463	.|Q96MT7-2	.|.	E|K	599|1463;66	.|ENSP00000377428:Q1463K;ENSP00000311497:Q66K	.|ENSP00000311497:Q66K	A|Q	-|-	2|1	0|0	WDR52|WDR52	114528111|114528111	1.000000|1.000000	0.71417|0.71417	0.816000|0.816000	0.32577|0.32577	0.888000|0.888000	0.51559|0.51559	3.516000|3.516000	0.53436|0.53436	1.366000|1.366000	0.46076|0.46076	-0.273000|-0.273000	0.10243|0.10243	GCA|CAA	WDR52	-	NULL	ENSG00000206530		0.338	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding			0	51	0	G			113045421	-1			no_errors	ENST00000393845	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.815	T	T	113045421	G	T	113045421	3	4	134	1	0	0	0	0	1	0	0	0	17353	1328	46	3	1209	3	WDR52	3	113045421	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	65995503	113045421	84977009	34	34486											
CASR	846	genome.wustl.edu	37	chr3	121994703	121994703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aactttacaaacaatatgggGgagcaggtgacctttgatga	14	10	11	6	0	0	3	0	3	0	0	0	4	0	4	1	3	4	1	1	3	5	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:121994703G>A	ENST00000490131.1	+	5	1794	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	CASR_ENST00000296154.5_Silent_p.G474G|CASR_ENST00000498619.1_Silent_p.G474G	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	474					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACAATATGGGGGAGCAGGTGA	0.488																																																	0													115	105	108					3																	121994703		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1422G>A	3.37:g.121994703G>A			Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.G474	ENST00000490131.1	37	c.1422	CCDS3010.1	3																																																																																			CASR	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom	ENSG00000036828		0.488	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	-	0	78	0	G	NM_000388		121994703	1	tier1	-	no_errors	ENST00000498619	ensembl	human	known	74_37	silent	13.39	97	15	SNP	1.000	A	A	121994703	G	A	121994703	2	1	134	1	0	0	0	0	0	0	0	1	2689	1219	43	3		3	CASR	3	121994703	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	8949282	121994703	76027727	35	34487											
ALG1L	200810	genome.wustl.edu	37	chr3	125648300	125648300	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtatgtccataaccaaaggGagcacagtctgcacccagct	12	8	9	12	0	1	0	0	0	1	0	2	1	2	1	3	1	4	4	3	1	3	2	rs113713770	byFrequency	TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:125648300G>C	ENST00000340333.3	-	6	622	c.459C>G	c.(457-459)ctC>ctG	p.L153L	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	153							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TAACCAAAGGGAGCACAGTCT	0.567													.|||	3	0.000599042	0.0023	0	5008	,	,		16032	0		0	False		,,,				2504	0																0								G	,	3,2731		0,3,1364	39	52	47		459,519	-4.6	0.1	3	dbSNP_132	47	0,4644		0,0,2322	no	coding-synonymous,coding-synonymous	ALG1L	NM_001015050.2,NM_001195223.1	,	0,3,3686	CC,CG,GG		0.0,0.1097,0.0407	,	153/188,173/208	125648300	3,7375	1367	2322	3689	SO:0001819	synonymous_variant	0			BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"Glycosyltransferase group 1 domain containing"	33721	protein-coding gene	gene with protein product	"asparagine-linked glycosylation 1-like 1"		"asparagine-linked glycosylation 1-like"				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.459C>G	3.37:g.125648300G>C			D3DNA5	Silent	SNP	NULL	p.L153	ENST00000340333.3	37	c.459	CCDS33840.1	3																																																																																			ALG1L	-	NULL	ENSG00000189366		0.567	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1L	HGNC	protein_coding	OTTHUMT00000356347.1	-	0	235	0	G	NM_001015050		125648300	-1	tier1	rs113713770	no_errors	ENST00000340333	ensembl	human	known	74_37	silent	23.72	209	65	SNP	0.991	C	C	125648300	G	C	125648300	2	2	134	1	0	0	0	0	0	0	0	1	517	1161	41	5		5	ALG1L	3	125648300	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	3653597	125648300	72374130	36	34488											
TMEM14E	645843	genome.wustl.edu	37	chr3	152058400	152058400	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccaagtttggaaactatCagcaggcacctgcaactaaa	14	9	7	11	0	1	0	1	0	0	0	2	1	2	1	2	2	4	4	2	2	6	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:152058400C>T	ENST00000408960.3	-	1	379	c.294G>A	c.(292-294)ctG>ctA	p.L98L	MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000355460.2_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	98						integral component of membrane (GO:0016021)				lung(1)	1						TGGAAACTATCAGCAGGCACC	0.418																																																	0													91	85	87					3																	152058400		1568	3582	5150	SO:0001819	synonymous_variant	0				CCDS43161.1	3q25.1	2011-09-15			ENSG00000221962	ENSG00000221962			34386	protein-coding gene	gene with protein product							Standard	NM_001123228		Approved		uc010hvo.3	Q6UXP3	OTTHUMG00000159652	ENST00000408960.3:c.294G>A	3.37:g.152058400C>T				Silent	SNP	pfam_UPF0136_TM	p.L98	ENST00000408960.3	37	c.294	CCDS43161.1	3																																																																																			TMEM14E	-	NULL	ENSG00000221962		0.418	TMEM14E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM14E	HGNC	protein_coding	OTTHUMT00000356703.1	-	0	55	0	C	NM_001123228		152058400	-1	tier1	-	no_errors	ENST00000408960	ensembl	human	known	74_37	silent	33.96	70	36	SNP	0.011	T	T	152058400	C	T	152058400	2	4	134	1	0	0	0	0	0	0	0	1	16113	813	29	3		3	TMEM14E	3	152058400	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	26410100	152058400	45964030	37	34489											
OTOL1	131149	genome.wustl.edu	37	chr3	161220969	161220969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcacggagggcctggcGccaagggagagaagggggag	9	2	21	9	2	0	1	0	0	0	1	0	5	0	4	3	6	1	1	3	6	2	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr3:161220969G>A	ENST00000327928.4	+	4	673	c.673G>A	c.(673-675)Gcc>Acc	p.A225T		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	225	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						AGGGCCTGGCGCCaagggaga	0.577																																																	0													5	5	5					3																	161220969		1687	3763	5450	SO:0001583	missense	0				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.673G>A	3.37:g.161220969G>A	ENSP00000330808:p.Ala225Thr			Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.A225T	ENST00000327928.4	37	c.673	CCDS46948.1	3	.	.	.	.	.	.	.	.	.	.	G	7.308	0.614382	0.14129	.	.	ENSG00000182447	ENST00000327928	D	0.93426	-3.22	4.71	3.84	0.44239	.	0.660244	0.14754	N	0.300419	D	0.89262	0.6665	L	0.46567	1.45	0.25331	N	0.989031	B	0.11235	0.004	B	0.04013	0.001	T	0.75071	-0.3447	10	0.15066	T	0.55	.	11.7844	0.52034	0.0872:0.0:0.9128:0.0	.	225	A6NHN0	OTOL1_HUMAN	T	225	ENSP00000330808:A225T	ENSP00000330808:A225T	A	+	1	0	OTOL1	162703663	0.007000	0.16637	0.996000	0.52242	0.081000	0.17604	1.458000	0.35223	0.966000	0.38159	-0.252000	0.11476	GCC	OTOL1	-	NULL	ENSG00000182447		0.577	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	HGNC	protein_coding	OTTHUMT00000353184.1	-	0	24	0	G	NM_001080440		161220969	1	tier1	-	no_errors	ENST00000327928	ensembl	human	known	74_37	missense	33.33	20	10	SNP	0.991	A	A	161220969	G	A	161220969	3	1	134	1	0	0	0	0	1	0	0	0	11343	1087	38	1	687	1	OTOL1	3	161220969	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	9162569	161220969	36801461	38	34490											
MFSD10	10227	genome.wustl.edu	37	chr4	2934143	2934143	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaggtcggaggctgcgaAgagcagggcaaaccagggtg	11	3	18	9	2	0	1	0	0	0	1	1	3	0	2	1	5	4	4	1	5	2	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:2934143A>G	ENST00000329687.4	-	5	1162	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L	MFSD10_ENST00000508221.1_Missense_Mutation_p.F210L|MFSD10_ENST00000355443.4_Missense_Mutation_p.F210L|MFSD10_ENST00000514800.1_Missense_Mutation_p.F210L|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000507555.1_Missense_Mutation_p.F210L|NOP14-AS1_ENST00000505731.1_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	210					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GAGGCTGCGAAGAGCAGGGCA	0.642																																																	0													49	53	52					4																	2934143		2203	4300	6503	SO:0001583	missense	0			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.628T>C	4.37:g.2934143A>G	ENSP00000332646:p.Phe210Leu		Q07706	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F210L	ENST00000329687.4	37	c.628	CCDS3365.1	4	.	.	.	.	.	.	.	.	.	.	A	7.449	0.642220	0.14451	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	4.17	4.17	0.49024	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.273612	0.41294	N	0.000904	T	0.22003	0.0530	N	0.03294	-0.36	0.80722	D	1	B;B;B;B	0.20164	0.003;0.008;0.042;0.008	B;B;B;B	0.26517	0.041;0.07;0.015;0.023	T	0.14448	-1.0472	10	0.02654	T	1	.	12.3148	0.54948	1.0:0.0:0.0:0.0	.	210;210;210;210	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	L	210	ENSP00000426907:F210L;ENSP00000347619:F210L;ENSP00000332646:F210L;ENSP00000425757:F210L;ENSP00000423402:F210L	ENSP00000332646:F210L	F	-	1	0	MFSD10	2903941	1.000000	0.71417	0.980000	0.43619	0.668000	0.39293	6.867000	0.75511	1.755000	0.51935	0.528000	0.53228	TTC	MFSD10	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000109736		0.642	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD10	HGNC	protein_coding	OTTHUMT00000358072.2	-	0	46	0	A	NM_001120		2934143	-1	tier1	-	no_errors	ENST00000329687	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	G	G	2934143	A	G	2934143	3	3	134	1	0	0	0	0	1	0	0	0	9566	72	3	4	771	4	MFSD10	4	2934143	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09		2934143	188220133	39	34491											
TAPT1	202018	genome.wustl.edu	37	chr4	16168265	16168265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accaaacctaccttgagaggGtttacatttgttctgtgatt	10	15	8	8	0	1	2	0	2	1	1	1	3	1	2	3	1	3	2	3	1	3	7			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:16168265G>T	ENST00000405303.2	-	13	1548	c.1465C>A	c.(1465-1467)Ccc>Acc	p.P489T	TAPT1_ENST00000399920.3_Missense_Mutation_p.P378T|TAPT1_ENST00000304584.8_3'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	489					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						CCTTGAGAGGGTTTACATTTG	0.438																																																	0													182	194	190					4																	16168265		1976	4163	6139	SO:0001583	missense	0			AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1465C>A	4.37:g.16168265G>T	ENSP00000385347:p.Pro489Thr		Q8N2S3|Q9NZK9	Missense_Mutation	SNP	pfam_Membrane_Tatp1/CMV_rcpt	p.P489T	ENST00000405303.2	37	c.1465	CCDS47030.1	4	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360957	0.24684	.	.	ENSG00000169762	ENST00000405303;ENST00000542770;ENST00000399920	T;T	0.29397	1.57;1.57	4.99	-6.57	0.01842	.	0.918823	0.09502	N	0.793414	T	0.12178	0.0296	N	0.19112	0.55	0.21020	N	0.9998	B	0.02656	0.0	B	0.01281	0.0	T	0.33803	-0.9854	10	0.12103	T	0.63	-0.8859	3.7781	0.08669	0.5535:0.0961:0.2543:0.0961	.	489	Q6NXT6	TAPT1_HUMAN	T	489;489;378	ENSP00000385347:P489T;ENSP00000382803:P378T	ENSP00000382803:P378T	P	-	1	0	TAPT1	15777363	0.018000	0.18449	0.002000	0.10522	0.808000	0.45660	-0.948000	0.03897	-0.963000	0.03600	0.650000	0.86243	CCC	TAPT1	-	NULL	ENSG00000169762		0.438	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPT1	HGNC	protein_coding	OTTHUMT00000359568.1		0	105	0	G	NM_153365		16168265	-1			no_errors	ENST00000405303	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.162	T	T	16168265	G	T	16168265	3	4	134	1	0	0	0	0	1	0	0	0	15601	1261	44	3	246	3	TAPT1	4	16168265	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	13234122	16168265	174986011	40	34492											
LAP3	51056	genome.wustl.edu	37	chr4	17590491	17590491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggatcattcctcagtgtgGccaaaggatctgacgagccc	9	9	12	11	1	3	1	2	1	1	0	4	4	4	3	3	3	1	0	3	3	1	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:17590491G>A	ENST00000226299.4	+	7	1028	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.A221T|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	252					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.A252T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CCTCAGTGTGGCCAAAGGATC	0.448																																																	1	Substitution - Missense(1)	endometrium(1)											108	106	107					4																	17590491		2203	4300	6503	SO:0001583	missense	0			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.754G>A	4.37:g.17590491G>A	ENSP00000226299:p.Ala252Thr		B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB	p.A252T	ENST00000226299.4	37	c.754	CCDS3422.1	4	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892764	0.72524	.	.	ENSG00000002549	ENST00000226299;ENST00000513105	T;T	0.47869	0.83;0.86	5.12	5.12	0.69794	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.047671	0.85682	D	0.000000	T	0.53110	0.1776	L	0.48260	1.515	0.52099	D	0.999943	P	0.48089	0.905	P	0.49502	0.613	T	0.51379	-0.8713	10	0.41790	T	0.15	-23.4311	18.9237	0.92536	0.0:0.0:1.0:0.0	.	252	P28838	AMPL_HUMAN	T	252;86	ENSP00000226299:A252T;ENSP00000424724:A86T	ENSP00000226299:A252T	A	+	1	0	LAP3	17199589	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.979000	0.63806	2.534000	0.85438	0.557000	0.71058	GCC	LAP3	-	pfam_Peptidase_M17_C	ENSG00000002549		0.448	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	-	0	66	0	G			17590491	1	tier1	-	no_errors	ENST00000226299	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	A	A	17590491	G	A	17590491	3	1	134	1	0	0	0	0	1	0	0	0	8651	1203	42	3	780	3	LAP3	4	17590491	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	1422226	17590491	173563785	41	34493											
APBB2	323	genome.wustl.edu	37	chr4	40895373	40895373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgcaacactacttttaccgGgggcgaggtcctcttctgcc	6	10	10	15	3	2	0	0	0	2	0	3	1	3	0	4	3	4	1	4	3	3	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:40895373G>A	ENST00000295974.8	-	11	1936	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	APBB2_ENST00000506352.1_Missense_Mutation_p.P415L|APBB2_ENST00000508593.1_Missense_Mutation_p.P437L|APBB2_ENST00000513140.1_Missense_Mutation_p.P415L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	436	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						ACTTTTACCGGGGGCGAGGTC	0.507																																					Ovarian(3;20 75 16686 49997)												0													192	199	197					4																	40895373		1990	4166	6156	SO:0001583	missense	0			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1307C>T	4.37:g.40895373G>A	ENSP00000295974:p.Pro436Leu		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.P436L	ENST00000295974.8	37	c.1307	CCDS54761.1	4	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271430	0.59649	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.5	4.66	0.58398	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.053096	0.85682	N	0.000000	T	0.48732	0.1516	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	0.97110	0.998;1.0;0.999;1.0	T	0.55276	-0.8166	10	0.87932	D	0	-11.4235	14.1473	0.65357	0.0719:0.0:0.9281:0.0	.	398;437;415;436	B4DJ88;E9PG87;Q92870-2;Q92870	.;.;.;APBB2_HUMAN	L	436;435;415;437;415	ENSP00000295974:P436L;ENSP00000426018:P415L;ENSP00000427211:P437L;ENSP00000421539:P415L	ENSP00000295974:P436L	P	-	2	0	APBB2	40590130	1.000000	0.71417	0.262000	0.24481	0.005000	0.04900	9.771000	0.98977	1.332000	0.45431	0.561000	0.74099	CCC	APBB2	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000163697		0.507	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	APBB2	HGNC	protein_coding	OTTHUMT00000360523.3	-	0	92	0	G	NM_173075		40895373	-1	tier1	-	no_errors	ENST00000295974	ensembl	human	known	74_37	missense	22.22	63	18	SNP	1.000	A	A	40895373	G	A	40895373	3	1	134	1	0	0	0	0	1	0	0	0	761	1232	43	3	1001	3	APBB2	4	40895373	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	23304882	40895373	150258903	42	34494											
GABRB1	2560	genome.wustl.edu	37	chr4	47427817	47427817	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatgacagcgccagcatcCagtaccgcaagcccctgagc	10	5	9	17	2	0	2	0	2	0	0	1	2	1	2	6	0	5	3	6	0	3	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:47427817C>T	ENST00000295454.3	+	9	1499	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	GABRB1_ENST00000538619.1_Nonsense_Mutation_p.Q333*	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	403					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)	CGCCAGCATCCAGTACCGCAA	0.672																																																	0													42	49	46					4																	47427817		2203	4300	6503	SO:0001587	stop_gained	0				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.1207C>T	4.37:g.47427817C>T	ENSP00000295454:p.Gln403*		B2R6U7|D6REL3|Q16166|Q8TBK3	Nonsense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Q403*	ENST00000295454.3	37	c.1207	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.944190	0.97128	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	.	.	.	5.38	5.38	0.77491	.	0.318671	0.30051	N	0.010525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-4.9774	19.3205	0.94236	0.0:1.0:0.0:0.0	.	.	.	.	X	403;333	.	ENSP00000295454:Q403X	Q	+	1	0	GABRB1	47122574	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.830000	0.69324	2.803000	0.96430	0.650000	0.86243	CAG	GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000163288		0.672	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	-	0	60	0	C			47427817	1	tier1	-	no_errors	ENST00000295454	ensembl	human	known	74_37	nonsense	12.50	42	6	SNP	1.000	T	T	47427817	C	T	47427817	4	4	134	1	0	0	0	0	0	1	0	0	6190	595	21	3	1241	3	GABRB1	4	47427817	Nonsense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	6532444	47427817	143726459	43	34495											
SLC10A4	201780	genome.wustl.edu	37	chr4	48490487	48490487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactctggtggtccttttcaTaatgaccggcactatgttag	8	14	10	9	1	2	1	1	1	1	0	3	2	3	1	2	3	0	2	2	3	3	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:48490487T>C	ENST00000273861.4	+	3	1064	c.845T>C	c.(844-846)aTa>aCa	p.I282T	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	282						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						GTCCTTTTCATAATGACCGGC	0.448																																																	0													174	176	175					4																	48490487		2203	4300	6503	SO:0001583	missense	0			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.845T>C	4.37:g.48490487T>C	ENSP00000273861:p.Ile282Thr		Q8WUZ2	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.I282T	ENST00000273861.4	37	c.845	CCDS3482.1	4	.	.	.	.	.	.	.	.	.	.	T	9.986	1.229590	0.22542	.	.	ENSG00000145248	ENST00000273861	T	0.11604	2.76	5.62	5.62	0.85841	.	0.041188	0.85682	D	0.000000	T	0.11410	0.0278	N	0.22421	0.69	0.58432	D	0.999999	B	0.28667	0.219	B	0.34873	0.191	T	0.12091	-1.0561	10	0.66056	D	0.02	-27.7477	16.1283	0.81408	0.0:0.0:0.0:1.0	.	282	Q96EP9	NTCP4_HUMAN	T	282	ENSP00000273861:I282T	ENSP00000273861:I282T	I	+	2	0	SLC10A4	48185244	1.000000	0.71417	0.980000	0.43619	0.086000	0.17979	4.775000	0.62346	2.263000	0.75096	0.533000	0.62120	ATA	SLC10A4	-	pfam_BilAc/Na_symport	ENSG00000145248		0.448	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A4	HGNC	protein_coding	OTTHUMT00000219926.3	-	0	58	0	T	NM_152679		48490487	1	tier1	-	no_errors	ENST00000273861	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.997	C	C	48490487	T	C	48490487	3	2	134	1	0	0	0	0	1	0	0	0	14421	1406	49	4	855	4	SLC10A4	4	48490487	Missense_Mutation	SNP	T	TCGA-LN-A9FQ-01A-31D-A387-09	1062670	48490487	142663789	44	34496											
EXOC1	55763	genome.wustl.edu	37	chr4	56734599	56734599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagagaagaacaggatatCgaaataatgatggaaggctg	18	6	13	4	1	0	3	0	1	0	2	1	7	0	5	0	3	1	2	0	3	7	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:56734599C>T	ENST00000381295.2	+	5	861	c.513C>T	c.(511-513)atC>atT	p.I171I	EXOC1_ENST00000346134.7_Silent_p.I171I|EXOC1_ENST00000349598.6_Silent_p.I171I	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	171					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)					AACAGGATATCGAAATAATGA	0.413																																																	0													147	140	143					4																	56734599		2203	4300	6503	SO:0001819	synonymous_variant	0			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.513C>T	4.37:g.56734599C>T			Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	pfam_Exocyst_Exoc1/SEC3	p.I171	ENST00000381295.2	37	c.513	CCDS3502.1	4																																																																																			EXOC1	-	NULL	ENSG00000090989		0.413	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1	-	0	41	0	C	NM_018261		56734599	1	tier1	-	no_errors	ENST00000346134	ensembl	human	known	74_37	silent	45.95	20	17	SNP	1.000	T	T	56734599	C	T	56734599	2	4	134	1	0	0	0	0	0	0	0	1	5317	874	31	1		1	EXOC1	4	56734599	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	8244112	56734599	134419677	45	34497											
LPHN3	23284	genome.wustl.edu	37	chr4	62599041	62599041	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgatttgtggaattctgtatGtggtcaaatctgtatatgag	10	17	11	3	0	3	2	1	2	2	0	3	3	3	3	0	2	0	2	0	2	5	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:62599041G>T	ENST00000514591.1	+	7	1293	c.964G>T	c.(964-966)Gtg>Ttg	p.V322L	LPHN3_ENST00000508946.1_Missense_Mutation_p.V322L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V390L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V390L|LPHN3_ENST00000512091.2_Missense_Mutation_p.V322L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V390L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V322L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V390L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V322L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V322L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V390L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V390L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V322L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V322L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V390L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	322	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						AATTCTGTATGTGGTCAAATC	0.393																																																	0													107	96	100					4																	62599041		1928	4139	6067	SO:0001583	missense	0			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.964G>T	4.37:g.62599041G>T	ENSP00000422533:p.Val322Leu		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.V390L	ENST00000514591.1	37	c.1168	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034529	0.75617	.	.	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	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	M	0.87456	2.885	0.58432	D	0.999999	D;D;P	0.69078	0.997;0.997;0.902	D;D;D	0.79108	0.992;0.992;0.927	D	0.96537	0.9397	10	0.87932	D	0	.	17.9471	0.89042	0.0:0.0:1.0:0.0	.	322;390;322	E9PE04;E7EN28;Q9HAR2-2	.;.;.	L	322;322;390;390;322;322;322;322;322;390;390;390;322;322;322;390;390;322	ENSP00000423388:V322L;ENSP00000422533:V322L;ENSP00000423787:V390L;ENSP00000425033:V390L;ENSP00000424120:V322L;ENSP00000439831:V322L;ENSP00000421476:V390L;ENSP00000424030:V390L;ENSP00000421372:V390L;ENSP00000425201:V322L;ENSP00000423434:V322L;ENSP00000421627:V322L;ENSP00000420931:V390L;ENSP00000425884:V390L;ENSP00000424258:V322L	ENSP00000280009:V322L	V	+	1	0	LPHN3	62281636	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.869000	0.99810	2.471000	0.83476	0.557000	0.71058	GTG	LPHN3	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000150471		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1		0	37	0	G			62599041	1			no_errors	ENST00000507625	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	62599041	G	T	62599041	3	4	134	1	0	0	0	0	1	0	0	0	8952	1377	48	3	982	3	LPHN3	4	62599041	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	5864442	62599041	128555235	46	34498											
ARHGAP24	83478	genome.wustl.edu	37	chr4	86916404	86916404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaacagactgtccacctatGataatgtccatcaacagttc	14	10	5	12	0	1	2	1	1	0	1	4	2	3	2	3	0	2	1	3	0	4	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:86916404G>A	ENST00000395184.1	+	9	2063	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.D438N|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.D440N	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	533					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)		GTCCACCTATGATAATGTCCA	0.483																																																	0													135	115	121					4																	86916404		2203	4300	6503	SO:0001583	missense	0			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.1597G>A	4.37:g.86916404G>A	ENSP00000378611:p.Asp533Asn		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.D533N	ENST00000395184.1	37	c.1597	CCDS34025.1	4	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741250	0.89573	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.55052	1.12;0.71;0.54;0.62	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.73433	-0.3984	10	0.56958	D	0.05	.	20.1935	0.98237	0.0:0.0:1.0:0.0	.	438;440;533	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	N	533;438;448;440	ENSP00000378611:D533N;ENSP00000378610:D438N;ENSP00000425589:D448N;ENSP00000264343:D440N	ENSP00000264343:D440N	D	+	1	0	ARHGAP24	87135428	1.000000	0.71417	0.883000	0.34634	0.729000	0.41735	9.434000	0.97515	2.779000	0.95612	0.591000	0.81541	GAT	ARHGAP24	-	NULL	ENSG00000138639		0.483	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	-	0	65	0	G	NM_031305		86916404	1	tier1	-	no_errors	ENST00000395184	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	86916404	G	A	86916404	3	1	134	1	0	0	0	0	1	0	0	0	873	1290	45	3	1743	3	ARHGAP24	4	86916404	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	24317363	86916404	104237872	47	34499											
PKD2	5311	genome.wustl.edu	37	chr4	88929174	88929176	+	In_Frame_Del	DEL	GAG	GAG	-																															ataaccccggcttcgaggccGaggaggaggaggaggaggtg																										TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:88929174_88929176delGAG	ENST00000237596.2	+	1	355_357	c.289_291delGAG	c.(289-291)gagdel	p.E102del		NM_000297.3	NP_000288.1	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)			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)		CTTCGAGGCCgaggaggaggagg	0.739																																																	0										18,82,2250		6,0,6,18,46,1099						-3.4	0.9			2	8,117,4707		2,0,4,14,89,2307	no	codingComplex	PKD2	NM_000297.3		8,0,10,32,135,3406	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5869,4.2553,3.1328				26,199,6957				SO:0001651	inframe_deletion	0			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	ENST00000237596.2:c.289_291delGAG	4.37:g.88929183_88929185delGAG	ENSP00000237596:p.Glu102del		Q8TB08|Q9P0T6|Q9Y3X8	In_Frame_Del	DEL	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.E100in_frame_del	ENST00000237596.2	37	c.289_291	CCDS3627.1	4																																																																																			PKD2	-	NULL	ENSG00000118762		0.739	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000253042.4		0	42	0	GAG	NM_000297		88929176	1	tier1		no_errors	ENST00000237596	ensembl	human	known	74_37	in_frame_del	8.11	34	3	DEL	1.000:1.000:1.000	-	-	88929176	GAG	-	88929174	7	5	134	1	0	1	0	1	0	0	0	0	12005	1059	37	0	291	0	PKD2	4	88929174	In_Frame_Del	DEL	GAG	TCGA-LN-A9FQ-01A-31D-A387-09	2012770	88929174	102225102	48	34500											
BANK1	55024	genome.wustl.edu	37	chr4	102984253	102984253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaattacgacaactacgaGactgcattattgggaaaagg	17	8	10	6	2	0	2	0	0	0	2	0	5	0	3	0	2	4	1	0	2	7	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:102984253G>C	ENST00000322953.4	+	13	2444	c.2170G>C	c.(2170-2172)Gac>Cac	p.D724H	BANK1_ENST00000508653.1_Missense_Mutation_p.D591H|BANK1_ENST00000444316.2_Missense_Mutation_p.D694H|BANK1_ENST00000504592.1_Missense_Mutation_p.D709H|BANK1_ENST00000428908.1_Missense_Mutation_p.D591H	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	724					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ACAACTACGAGACTGCATTAT	0.323																																																	0													95	96	96					4																	102984253		2203	4300	6503	SO:0001583	missense	0			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2170G>C	4.37:g.102984253G>C	ENSP00000320509:p.Asp724His		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.D724H	ENST00000322953.4	37	c.2170	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846583	0.32606	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.27256	2.35;2.34;1.68;1.68;2.35	5.58	4.72	0.59763	.	0.125811	0.51477	D	0.000093	T	0.44726	0.1307	L	0.53249	1.67	0.32582	N	0.528319	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.961;0.961	T	0.58515	-0.7623	10	0.87932	D	0	.	11.6306	0.51173	0.0:0.0:0.8221:0.1779	.	591;724;709	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	H	709;724;591;591;694	ENSP00000421443:D709H;ENSP00000320509:D724H;ENSP00000412748:D591H;ENSP00000422314:D591H;ENSP00000388817:D694H	ENSP00000320509:D724H	D	+	1	0	BANK1	103203276	1.000000	0.71417	0.950000	0.38849	0.018000	0.09664	2.422000	0.44696	1.311000	0.45024	0.561000	0.74099	GAC	BANK1	-	NULL	ENSG00000153064		0.323	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	-	0	61	0	G	NM_017935		102984253	1	tier1	-	no_errors	ENST00000322953	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.992	C	C	102984253	G	C	102984253	3	2	134	1	0	0	0	0	1	0	0	0	1310	942	33	5	2220	5	BANK1	4	102984253	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	14055079	102984253	88170023	49	34501											
TET2	54790	genome.wustl.edu	37	chr4	106190855	106190855	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	cactgcatgtttggacttctGtgctcatgcccacagagact	8	12	9	12	0	2	1	1	0	1	1	2	3	2	2	1	1	3	3	1	1	0	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:106190855G>A	ENST00000540549.1	+	9	4993	c.4133G>A	c.(4132-4134)tGt>tAt	p.C1378Y	TET2_ENST00000380013.4_Missense_Mutation_p.C1378Y|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.C1399Y			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1378					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.C1378Y(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)		TTGGACTTCTGTGCTCATGCC	0.493			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											110	95	99					4																	106190855		692	1591	2283	SO:0001583	missense	0			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.4133G>A	4.37:g.106190855G>A	ENSP00000442788:p.Cys1378Tyr		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.C1378Y	ENST00000540549.1	37	c.4133	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343726	0.82022	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.12672	2.66;2.66;2.66	5.62	4.77	0.60923	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.41903	0.1179	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.49588	-0.8924	9	0.87932	D	0	-5.0547	16.1944	0.82018	0.0:0.1378:0.8622:0.0	.	1399;1378	E7EQS8;Q6N021	.;TET2_HUMAN	Y	1378;1399;1378	ENSP00000442788:C1378Y;ENSP00000425443:C1399Y;ENSP00000369351:C1378Y	ENSP00000369351:C1378Y	C	+	2	0	TET2	106410304	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.797000	0.85911	1.349000	0.45751	0.655000	0.94253	TGT	TET2	-	NULL	ENSG00000168769		0.493	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	-	0	31	0	G	NM_017628		106190855	1	tier1	-	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	72.22	5	13	SNP	1.000	A	A	106190855	G	A	106190855	3	1	134	1	0	0	0	0	1	0	0	0	15817	1377	48	3	4248	3	TET2	4	106190855	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	3206602	106190855	84963421	50	34502											
SCLT1	132320	genome.wustl.edu	37	chr4	129864293	129864293	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctctcagactccaatacaTtttgaagtttctgaatcatt	11	16	4	10	0	4	3	2	2	2	1	6	3	5	3	1	0	1	1	1	0	4	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr4:129864293T>A	ENST00000281142.5	-	17	1993	c.1490A>T	c.(1489-1491)aAt>aTt	p.N497I	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	497					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTCCAATACATTTTGAAGTTT	0.343																																																	0													73	70	71					4																	129864293		2202	4298	6500	SO:0001583	missense	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1490A>T	4.37:g.129864293T>A	ENSP00000281142:p.Asn497Ile		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.N497I	ENST00000281142.5	37	c.1490	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	T	8.610	0.889011	0.17540	.	.	ENSG00000151466	ENST00000281142	T	0.09538	2.97	5.31	1.57	0.23409	.	0.448580	0.26143	N	0.026100	T	0.06781	0.0173	L	0.36672	1.1	0.09310	N	0.999999	P	0.40834	0.73	B	0.37304	0.246	T	0.26780	-1.0093	9	.	.	.	-0.465	3.7234	0.08465	0.0:0.3094:0.2091:0.4815	.	497	Q96NL6	SCLT1_HUMAN	I	497	ENSP00000281142:N497I	.	N	-	2	0	SCLT1	130083743	0.624000	0.27102	0.202000	0.23494	0.433000	0.31745	0.914000	0.28624	0.333000	0.23563	0.377000	0.23210	AAT	SCLT1	-	NULL	ENSG00000151466		0.343	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	-	0	71	0	T	NM_144643		129864293	-1	tier1	-	no_errors	ENST00000281142	ensembl	human	known	74_37	missense	60.87	18	28	SNP	0.035	A	A	129864293	T	A	129864293	3	1	134	1	0	0	0	0	1	0	0	0	13951	1493	52	5	596	5	SCLT1	4	129864293	Missense_Mutation	SNP	T	TCGA-LN-A9FQ-01A-31D-A387-09	23673438	129864293	61289983	51	34503											
ADAMTS19	171019	genome.wustl.edu	37	chr5	129072769	129072769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ctgtttcacagctgctctgaCtttcaagtgcctgggagatc	7	13	10	11	0	3	2	2	1	1	1	4	3	3	2	1	1	3	3	1	1	1	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:129072769C>G	ENST00000274487.4	+	23	3627	c.3482C>G	c.(3481-3483)aCt>aGt	p.T1161S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1161	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					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)		GCTGCTCTGACTTTCAAGTGC	0.458																																																	0													125	118	121					5																	129072769		2203	4300	6503	SO:0001583	missense	0			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.3482C>G	5.37:g.129072769C>G	ENSP00000274487:p.Thr1161Ser			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T1161S	ENST00000274487.4	37	c.3482	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	C	18.63	3.666354	0.67814	.	.	ENSG00000145808	ENST00000274487	T	0.63913	-0.07	4.12	4.12	0.48240	PLAC (1);	0.187167	0.35970	N	0.002874	T	0.64864	0.2637	N	0.19112	0.55	0.53688	D	0.99997	D	0.76494	0.999	D	0.66196	0.942	T	0.63677	-0.6583	9	.	.	.	.	17.6813	0.88243	0.0:1.0:0.0:0.0	.	1161	Q8TE59	ATS19_HUMAN	S	1161	ENSP00000274487:T1161S	.	T	+	2	0	ADAMTS19	129100668	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.895000	0.75660	2.599000	0.87857	0.650000	0.86243	ACT	ADAMTS19	-	pfscan_PLAC	ENSG00000145808		0.458	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0	56	0	C	NM_133638		129072769	1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	61.11	13	22	SNP	1.000	G	G	129072769	C	G	129072769	3	3	134	1	0	0	0	0	1	0	0	0	264	565	20	5	3572	5	ADAMTS19	5	129072769	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09		129072769	51842491	52	34504											
DCTN4	51164	genome.wustl.edu	37	chr5	150136010	150136010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtttggcttcagccgatgGcatattttctaaacaactgg	10	14	9	8	1	2	0	1	0	1	0	2	1	2	0	1	3	3	3	1	3	5	7			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:150136010G>A	ENST00000447998.2	-	2	290	c.175C>T	c.(175-177)Cca>Tca	p.P59S	DCTN4_ENST00000521093.1_5'UTR|DCTN4_ENST00000446090.2_Missense_Mutation_p.P59S|DCTN4_ENST00000424236.1_Missense_Mutation_p.P2S	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	59					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)			TCAGCCGATGGCATATTTTCT	0.343																																																	0													58	63	61					5																	150136010		2203	4300	6503	SO:0001583	missense	0			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.175C>T	5.37:g.150136010G>A	ENSP00000416968:p.Pro59Ser		B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	pfam_Dynactin_p62	p.P59S	ENST00000447998.2	37	c.175	CCDS4310.1	5	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331519	0.60853	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090;ENST00000518015;ENST00000521533	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	L	0.43646	1.37	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.65140	0.889;0.932	T	0.38090	-0.9677	10	0.45353	T	0.12	-40.4297	18.6503	0.91428	0.0:0.0:1.0:0.0	.	59;59	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	S	59;2;59;2;2	ENSP00000416968:P59S;ENSP00000411251:P2S;ENSP00000414906:P59S;ENSP00000430993:P2S;ENSP00000430183:P2S	ENSP00000411251:P2S	P	-	1	0	DCTN4	150116203	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	9.706000	0.98722	2.370000	0.80446	0.655000	0.94253	CCA	DCTN4	-	pfam_Dynactin_p62	ENSG00000132912		0.343	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCTN4	HGNC	protein_coding	OTTHUMT00000252372.1	-	0	111	0	G			150136010	-1	tier1	-	no_errors	ENST00000446090	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	A	A	150136010	G	A	150136010	3	1	134	1	0	0	0	0	1	0	0	0	4318	1203	42	3	1280	3	DCTN4	5	150136010	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	21063241	150136010	30779250	53	34505											
PWWP2A	114825	genome.wustl.edu	37	chr5	159519671	159519671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaagggaagccatatatCttggcccaaacaatgtcccc	13	7	7	14	0	1	0	0	0	1	0	2	1	2	1	5	2	2	0	5	2	6	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:159519671C>T	ENST00000307063.7	-	2	2020	c.1986G>A	c.(1984-1986)aaG>aaA	p.K662K	PWWP2A_ENST00000456329.3_Intron|PWWP2A_ENST00000523662.1_Intron	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	662	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCATATATCTTGGCCCAAA	0.458																																																	0													39	35	36					5																	159519671		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.1986G>A	5.37:g.159519671C>T			G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Silent	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.K662	ENST00000307063.7	37	c.1986	CCDS47332.1	5																																																																																			PWWP2A	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000170234		0.458	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PWWP2A	HGNC	protein_coding	OTTHUMT00000374092.1		0	39	0	C			159519671	-1			no_errors	ENST00000307063	ensembl	human	known	74_37	silent	6.98	40	3	SNP	1.000	T	T	159519671	C	T	159519671	2	4	134	1	0	0	0	0	0	0	0	1	12890	912	32	3		3	PWWP2A	5	159519671	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	9383661	159519671	21395589	54	34506											
ATP10B	23120	genome.wustl.edu	37	chr5	160067570	160067570	+	Missense_Mutation	SNP	T	T	C	0	1	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	gcgtttgtaccgggggccacTgttgttcagcatggctttcg	4	13	14	10	3	1	0	1	0	0	0	2	0	1	0	2	3	2	6	2	3	1	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:160067570T>C	ENST00000327245.5	-	10	1744	c.898A>G	c.(898-900)Agt>Ggt	p.S300G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	300					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)			CGGGGGCCACTGTTGTTCAGC	0.483																																																	0													179	183	182					5																	160067570		2013	4205	6218	SO:0001583	missense	0			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.898A>G	5.37:g.160067570T>C	ENSP00000313600:p.Ser300Gly		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.S300G	ENST00000327245.5	37	c.898	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943693	0.73672	.	.	ENSG00000118322	ENST00000327245	D	0.91011	-2.77	5.41	5.41	0.78517	ATPase, P-type, ATPase-associated domain (1);	0.112693	0.64402	D	0.000007	D	0.88235	0.6382	L	0.31157	0.91	0.40676	D	0.982268	P;B;P;B	0.50528	0.763;0.003;0.936;0.201	P;B;P;B	0.49528	0.61;0.026;0.614;0.138	D	0.87698	0.2558	9	.	.	.	.	14.6292	0.68643	0.0:0.0:0.0:1.0	.	344;300;272;300	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	G	300	ENSP00000313600:S300G	.	S	-	1	0	ATP10B	160000148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.910000	0.87451	2.059000	0.61396	0.528000	0.53228	AGT	ATP10B	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000118322		0.483	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	-	0	85	0	T	NM_025153		160067570	-1	tier1	-	no_errors	ENST00000327245	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	C	C	160067570	T	C	160067570	3	2	134	1	0	0	0	0	1	0	0	0	1118	1580	55	4	3555	4	ATP10B	5	160067570	Missense_Mutation	SNP	T	TCGA-LN-A9FQ-01A-31D-A387-09	547899	160067570	20847690	55	34507											
FBXW11	23291	genome.wustl.edu	37	chr5	171305017	171305017	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccagatcactcacctCaccgtagaatctgaagagcc	13	7	8	13	1	4	5	3	2	1	3	4	5	4	5	4	0	2	1	4	0	4	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:171305017C>A	ENST00000265094.5	-	7	1043	c.906G>T	c.(904-906)gtG>gtT	p.V302V	FBXW11_ENST00000393802.2_Silent_p.V268V|FBXW11_ENST00000296933.6_Silent_p.V289V|FBXW11_ENST00000425623.2_Silent_p.V270V|FBXW11_ENST00000522891.1_5'UTR	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	302					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|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)|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)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.V289V(1)|p.V302V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACTCACCTCACCGTAGAAT	0.458																																																	2	Substitution - coding silent(2)	lung(2)											109	94	99					5																	171305017		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.906G>T	5.37:g.171305017C>A			B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V302	ENST00000265094.5	37	c.906	CCDS34289.1	5																																																																																			FBXW11	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000072803		0.458	FBXW11-002	KNOWN	basic|CCDS	protein_coding	FBXW11	HGNC	protein_coding	OTTHUMT00000372382.1		0	49	0	C	NM_012300		171305017	-1			no_errors	ENST00000265094	ensembl	human	known	74_37	silent	6.90	27	2	SNP	1.000	A	A	171305017	C	A	171305017	2	1	134	1	0	0	0	0	0	0	0	1	5786	813	29	3		3	FBXW11	5	171305017	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	11237447	171305017	9610243	56	34508											
FGFR4	2264	genome.wustl.edu	37	chr5	176518014	176518014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggaacaccgtcaagttccGctgtccagctgcaggcaacc	9	6	12	14	2	1	0	1	0	0	0	3	1	3	1	4	3	4	5	4	3	3	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr5:176518014G>A	ENST00000292408.4	+	5	757	c.512G>A	c.(511-513)cGc>cAc	p.R171H	FGFR4_ENST00000393648.2_Missense_Mutation_p.R171H|FGFR4_ENST00000393637.1_Missense_Mutation_p.R171H|FGFR4_ENST00000292410.3_Missense_Mutation_p.R171H|FGFR4_ENST00000502906.1_Missense_Mutation_p.R171H	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	171	Ig-like C2-type 2.				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)	GTCAAGTTCCGCTGTCCAGCT	0.617										TSP Lung(9;0.080)																																							0													91	73	79					5																	176518014		2203	4300	6503	SO:0001583	missense	0			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.512G>A	5.37:g.176518014G>A	ENSP00000292408:p.Arg171His		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R171H	ENST00000292408.4	37	c.512	CCDS4410.1	5	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745661	0.89663	.	.	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	4.74	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	L	0.28115	0.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.996;0.999	T	0.75569	-0.3272	10	0.52906	T	0.07	.	17.5207	0.87786	0.0:0.0:1.0:0.0	.	171;171;171;171	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	H	171;171;171;171;171;171;283	ENSP00000292408:R171H;ENSP00000424905:R171H;ENSP00000377259:R171H;ENSP00000424960:R171H;ENSP00000292410:R171H;ENSP00000377254:R171H	ENSP00000292408:R171H	R	+	2	0	FGFR4	176450620	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.504000	0.66968	2.470000	0.83445	0.561000	0.74099	CGC	FGFR4	-	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160867		0.617	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	HGNC	protein_coding	OTTHUMT00000253410.1	-	0	45	0	G			176518014	1	tier1	-	no_errors	ENST00000292408	ensembl	human	known	74_37	missense	11.54	46	6	SNP	1.000	A	A	176518014	G	A	176518014	3	1	134	1	0	0	0	0	1	0	0	0	5890	1087	38	1	526	1	FGFR4	5	176518014	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	5212997	176518014	4397246	57	34509											
HIST1H2BG	8339	genome.wustl.edu	37	chr6	26216766	26216766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacatacacggagtagctctCcttacgactgcgcttgcgct	8	10	9	14	4	1	0	0	0	1	0	2	2	1	1	1	1	5	4	1	1	3	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:26216766C>T	ENST00000244601.3	-	1	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	36					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GAGTAGCTCTCCTTACGACTG	0.517																																																	0													248	217	227					6																	26216766		2203	4300	6503	SO:0001583	missense	0			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.106G>A	6.37:g.26216766C>T	ENSP00000244601:p.Glu36Lys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E36K	ENST00000244601.3	37	c.106	CCDS4594.1	6	.	.	.	.	.	.	.	.	.	.	.	24.2	4.500000	0.85176	.	.	ENSG00000187990	ENST00000244601	T	0.22743	1.94	4.0	4.0	0.46444	.	.	.	.	.	T	0.31734	0.0806	.	.	.	0.40909	D	0.98421	.	.	.	.	.	.	T	0.13683	-1.0500	6	0.72032	D	0.01	.	15.6296	0.76893	0.0:1.0:0.0:0.0	.	.	.	.	K	36	ENSP00000244601:E36K	ENSP00000244601:E36K	E	-	1	0	HIST1H2BG	26324745	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	7.473000	0.81007	2.222000	0.72286	0.655000	0.94253	GAG	HIST1H2BG	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B	ENSG00000187990		0.517	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BG	HGNC	protein_coding	OTTHUMT00000040109.2	-	0	100	0	C	NM_003518		26216766	-1	tier1	-	no_errors	ENST00000244601	ensembl	human	known	74_37	missense	17.78	74	16	SNP	1.000	T	T	26216766	C	T	26216766	3	4	134	1	0	0	0	0	1	0	0	0	7173	864	30	3	278	3	HIST1H2BG	6	26216766	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09		26216766	144898301	58	34510											
PKHD1	5314	genome.wustl.edu	37	chr6	51523791	51523791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactgagtaactagtaaggcCccgatagtcatattcagaac	14	9	9	9	1	2	2	2	1	0	1	2	4	2	2	2	1	2	2	2	1	6	6			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:51523791C>T	ENST00000371117.3	-	61	11408	c.11133G>A	c.(11131-11133)ggG>ggA	p.G3711G		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3711					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)					CTAGTAAGGCCCCGATAGTCA	0.388																																																	0													129	128	128					6																	51523791		2203	4300	6503	SO:0001819	synonymous_variant	0			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.11133G>A	6.37:g.51523791C>T			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.G3711	ENST00000371117.3	37	c.11133	CCDS4935.1	6																																																																																			PKHD1	-	NULL	ENSG00000170927		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	-	0	88	0	C	NM_138694		51523791	-1	tier1	-	no_errors	ENST00000371117	ensembl	human	known	74_37	silent	20.83	38	10	SNP	0.437	T	T	51523791	C	T	51523791	2	4	134	1	0	0	0	0	0	0	0	1	12010	610	22	3		3	PKHD1	6	51523791	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	25307025	51523791	119591276	59	34511											
SENP6	26054	genome.wustl.edu	37	chr6	76407199	76407199	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccggcacgtagatatttttGagaaggattttatttttgta	10	17	9	5	2	0	2	0	1	0	2	0	4	0	3	1	2	0	3	1	2	5	9			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:76407199G>C	ENST00000447266.2	+	18	2732	c.2254G>C	c.(2254-2256)Gag>Cag	p.E752Q	SENP6_ENST00000541192.1_Missense_Mutation_p.E348Q|SENP6_ENST00000370010.2_Missense_Mutation_p.E745Q|SENP6_ENST00000370014.3_Missense_Mutation_p.E752Q	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	752	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGATATTTTTGAGAAGGATTT	0.303																																																	0													85	85	85					6																	76407199		1800	4060	5860	SO:0001583	missense	0				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.2254G>C	6.37:g.76407199G>C	ENSP00000402527:p.Glu752Gln		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.E752Q	ENST00000447266.2	37	c.2254	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775434	0.49786	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266;ENST00000541192	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.67	5.67	0.87782	.	0.050931	0.85682	D	0.000000	T	0.15825	0.0381	L	0.31804	0.96	0.41351	D	0.987361	B;B	0.32968	0.34;0.392	B;B	0.37091	0.155;0.241	T	0.04115	-1.0976	10	0.34782	T	0.22	-14.4692	15.2806	0.73781	0.0:0.1396:0.8604:0.0	.	745;752	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	Q	745;752;752;348	ENSP00000359027:E745Q;ENSP00000359031:E752Q;ENSP00000402527:E752Q;ENSP00000441715:E348Q	ENSP00000359027:E745Q	E	+	1	0	SENP6	76463919	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.962000	0.63687	2.680000	0.91292	0.655000	0.94253	GAG	SENP6	-	pfam_Peptidase_C48,pfscan_Peptidase_C48	ENSG00000112701		0.303	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	-	0	62	0	G	NM_015571		76407199	1	tier1	-	no_errors	ENST00000370014	ensembl	human	known	74_37	missense	16.22	31	6	SNP	1.000	C	C	76407199	G	C	76407199	3	2	134	1	0	0	0	0	1	0	0	0	14095	1291	45	5	2324	5	SENP6	6	76407199	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	24883408	76407199	94707868	60	34512											
MAP3K7	6885	genome.wustl.edu	37	chr6	91246115	91246115	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctacgtcttggctgtcCgttgcctttaaaaagaagaa	11	12	10	8	2	2	2	0	0	2	2	3	3	3	3	2	2	2	2	2	2	6	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:91246115C>A	ENST00000369329.3	-	13	1458	c.1297G>T	c.(1297-1299)Gga>Tga	p.G433*	MAP3K7_ENST00000369327.3_Nonsense_Mutation_p.G406*|MAP3K7_ENST00000369332.3_Nonsense_Mutation_p.G406*|MAP3K7_ENST00000369325.3_Nonsense_Mutation_p.G433*|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369320.1_Nonsense_Mutation_p.G87*	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	433					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)	p.G406*(1)|p.G433*(1)		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)		CTTGGCTGTCCGTTGCCTTTA	0.363																																																	2	Substitution - Nonsense(2)	lung(2)											94	88	90					6																	91246115		2203	4300	6503	SO:0001587	stop_gained	0			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.1297G>T	6.37:g.91246115C>A	ENSP00000358335:p.Gly433*		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Nonsense_Mutation	SNP	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G433*	ENST00000369329.3	37	c.1297	CCDS5028.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.553720	0.97658	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000369320;ENST00000450832	.	.	.	5.73	4.86	0.63082	.	0.201216	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	16.5767	0.84681	0.0:0.8696:0.1304:0.0	.	.	.	.	X	406;433;433;406;87;333	.	ENSP00000358326:G87X	G	-	1	0	MAP3K7	91302836	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.161000	0.64935	1.411000	0.46957	0.650000	0.86243	GGA	MAP3K7	-	pirsf_MAPKKK7	ENSG00000135341		0.363	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1		0	49	0	C	NM_145331		91246115	-1			no_errors	ENST00000369329	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	1.000	A	A	91246115	C	A	91246115	4	1	134	1	0	0	0	0	0	1	0	0	9293	661	23	2	543	2	MAP3K7	6	91246115	Nonsense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	14838916	91246115	79868952	61	34513											
CCNC	892	genome.wustl.edu	37	chr6	99997423	99997423	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggatacagtaggcaaagatCcgttctgtaggtatcattca	13	11	10	7	1	3	1	2	0	1	1	4	2	4	2	1	3	1	5	1	3	5	6			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:99997423C>G	ENST00000520429.1	-	9	1004	c.559G>C	c.(559-561)Gat>Cat	p.D187H	CCNC_ENST00000521017.1_5'Flank|CCNC_ENST00000523985.1_Missense_Mutation_p.D102H|CCNC_ENST00000520371.1_Missense_Mutation_p.D187H|CCNC_ENST00000518714.1_Missense_Mutation_p.D187H|CCNC_ENST00000369220.4_Missense_Mutation_p.D186H|CCNC_ENST00000523799.1_Missense_Mutation_p.D102H	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	187					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|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;0.064)		AGGCAAAGATCCGTTCTGTAG	0.348																																					GBM(57;273 1020 40094 44454 49348)												0													120	103	109					6																	99997423		2203	4299	6502	SO:0001583	missense	0				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.559G>C	6.37:g.99997423C>G	ENSP00000428982:p.Asp187His		B4DPZ1|Q9H543	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC	p.D187H	ENST00000520429.1	37	c.559	CCDS34502.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123471	0.77436	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714;ENST00000524049	T;T;T;T;T;T;T;T	0.36699	1.61;1.61;1.61;1.24;1.26;1.24;1.61;1.29	5.25	4.38	0.52667	Cyclin-like (2);	0.049283	0.85682	D	0.000000	T	0.58466	0.2124	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.69355	-0.5167	9	.	.	.	-9.743	14.1661	0.65477	0.0:0.9274:0.0:0.0726	.	187;187	Q7Z4L3;P24863	.;CCNC_HUMAN	H	187;186;187;102;133;102;187;102	ENSP00000428982:D187H;ENSP00000358222:D186H;ENSP00000430381:D187H;ENSP00000430014:D102H;ENSP00000430077:D133H;ENSP00000430119:D102H;ENSP00000430294:D187H;ENSP00000427885:D102H	.	D	-	1	0	CCNC	100104144	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.669000	0.83911	1.343000	0.45638	-0.140000	0.14226	GAT	CCNC	-	superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC	ENSG00000112237		0.348	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2	-	0	40	0	C	NM_005190		99997423	-1	tier1	-	no_errors	ENST00000520429	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	G	G	99997423	C	G	99997423	3	3	134	1	0	0	0	0	1	0	0	0	2922	855	30	5	308	5	CCNC	6	99997423	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	8751308	99997423	71117644	62	34514											
QRSL1	55278	genome.wustl.edu	37	chr6	107088318	107088318	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccaagtttctaaatgcctAcattactgtgtcagaagagg	13	11	9	8	0	2	2	1	0	1	2	2	3	2	2	2	1	3	1	2	1	6	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:107088318A>T	ENST00000369046.4	+	2	223	c.119A>T	c.(118-120)tAc>tTc	p.Y40F	QRSL1_ENST00000467262.1_3'UTR|QRSL1_ENST00000369044.1_Missense_Mutation_p.Y40F	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)		CTAAATGCCTACATTACTGTG	0.358																																					NSCLC(192;2127 2142 11668 26277 49545)												0													79	78	79					6																	107088318		2203	4300	6503	SO:0001583	missense	0			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.119A>T	6.37:g.107088318A>T	ENSP00000358042:p.Tyr40Phe			Missense_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA	p.Y40F	ENST00000369046.4	37	c.119	CCDS5057.1	6	.	.	.	.	.	.	.	.	.	.	A	11.50	1.655919	0.29425	.	.	ENSG00000130348	ENST00000369046;ENST00000369044	T;T	0.61158	1.7;0.13	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	N	0.01048	-1.04	0.58432	D	0.999999	B;B	0.22683	0.018;0.073	B;B	0.28011	0.085;0.034	T	0.32348	-0.9910	10	0.02654	T	1	-6.9138	15.8485	0.78910	1.0:0.0:0.0:0.0	.	40;40	Q9H0R6;Q9H0R6-2	GATA_HUMAN;.	F	40	ENSP00000358042:Y40F;ENSP00000358040:Y40F	ENSP00000358040:Y40F	Y	+	2	0	QRSL1	107195011	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	6.846000	0.75399	2.148000	0.66965	0.528000	0.53228	TAC	QRSL1	-	pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA	ENSG00000130348		0.358	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	QRSL1	HGNC	protein_coding	OTTHUMT00000041667.1		0	51	0	A	NM_018292		107088318	1			no_errors	ENST00000369046	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	107088318	A	T	107088318	3	4	134	1	0	0	0	0	1	0	0	0	12926	391	14	5	125	5	QRSL1	6	107088318	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09	7090895	107088318	64026749	63	34515											
FAM184A	79632	genome.wustl.edu	37	chr6	119345780	119345780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagcctgctgcttcatttTtatgtgatcttctaatgatg	9	17	7	8	0	3	2	1	2	2	0	3	2	3	2	1	0	3	2	1	0	3	6			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:119345780T>C	ENST00000338891.7	-	2	801	c.358A>G	c.(358-360)Aaa>Gaa	p.K120E	FAM184A_ENST00000522284.1_5'UTR|FAM184A_ENST00000521531.1_Missense_Mutation_p.K120E|FAM184A_ENST00000352896.5_5'UTR|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_5'UTR	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	120						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						TGCTTCATTTTTATGTGATCT	0.373																																																	0													91	83	85					6																	119345780		1842	4093	5935	SO:0001583	missense	0			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.358A>G	6.37:g.119345780T>C	ENSP00000342604:p.Lys120Glu		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.K120E	ENST00000338891.7	37	c.358	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290883	0.59976	.	.	ENSG00000111879	ENST00000338891;ENST00000521531	T;T	0.29142	1.58;1.58	5.82	5.82	0.92795	.	0.127232	0.49305	D	0.000142	T	0.43567	0.1253	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.31475	-0.9942	10	0.46703	T	0.11	-27.5996	16.1814	0.81903	0.0:0.0:0.0:1.0	.	120	Q8NB25	F184A_HUMAN	E	120	ENSP00000342604:K120E;ENSP00000430442:K120E	ENSP00000342604:K120E	K	-	1	0	FAM184A	119387479	1.000000	0.71417	0.946000	0.38457	0.920000	0.55202	2.972000	0.49256	2.234000	0.73211	0.533000	0.62120	AAA	FAM184A	-	NULL	ENSG00000111879		0.373	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3		0	43	0	T	NM_024581		119345780	-1			no_errors	ENST00000338891	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.992	C	C	119345780	T	C	119345780	3	2	134	1	0	0	0	0	1	0	0	0	5530	1850	64	4	3132	4	FAM184A	6	119345780	Missense_Mutation	SNP	T	TCGA-LN-A9FQ-01A-31D-A387-09	12257462	119345780	51769287	64	34516											
TRMT11	60487	genome.wustl.edu	37	chr6	126334176	126334176	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgatatgtttcttgacctGttaaacttcgcagctgagac	10	14	9	8	1	1	3	0	3	1	1	2	4	1	3	1	0	2	4	1	0	3	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:126334176G>A	ENST00000334379.5	+	11	1189	c.1068G>A	c.(1066-1068)ctG>ctA	p.L356L	TRMT11_ENST00000368332.3_Silent_p.L356L	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	356					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TTCTTGACCTGTTAAACTTCG	0.348																																																	0													136	118	124					6																	126334176		2203	4300	6503	SO:0001819	synonymous_variant	0			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.1068G>A	6.37:g.126334176G>A			E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase	p.L356	ENST00000334379.5	37	c.1068	CCDS35496.1	6	.	.	.	.	.	.	.	.	.	.	G	7.245	0.602030	0.13939	.	.	ENSG00000066651	ENST00000453993	.	.	.	5.71	0.0321	0.14174	.	.	.	.	.	T	0.27384	0.0672	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15896	-1.0421	4	.	.	.	-6.8189	3.7199	0.08452	0.2446:0.1738:0.4849:0.0966	.	.	.	.	I	152	.	.	V	+	1	0	TRMT11	126375869	0.998000	0.40836	0.993000	0.49108	0.749000	0.42624	0.482000	0.22276	0.058000	0.16222	-0.244000	0.11960	GTT	TRMT11	-	pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase	ENSG00000066651		0.348	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	HGNC	protein_coding		-	0	81	0	G	NM_021820		126334176	1	tier1	-	no_errors	ENST00000334379	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.903	A	A	126334176	G	A	126334176	2	1	134	1	0	0	0	0	0	0	0	1	16610	1364	48	3		3	TRMT11	6	126334176	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	6988396	126334176	44780891	65	34517											
TAB2	23118	genome.wustl.edu	37	chr6	149730801	149730801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccgcctgtacttttttGaaccatccagccttaattcg	8	15	6	12	2	0	1	0	1	0	0	2	1	1	1	5	0	4	2	5	0	4	7			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:149730801G>T	ENST00000367456.1	+	8	2605	c.2028G>T	c.(2026-2028)ttG>ttT	p.L676F	TAB2_ENST00000286332.5_Missense_Mutation_p.L676F|TAB2_ENST00000538427.1_Missense_Mutation_p.L676F|TAB2_ENST00000536230.1_Missense_Mutation_p.L644F			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	676	Interaction with polyubiquitin.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GTACTTTTTTGAACCATCCAG	0.428																																																	0													172	166	168					6																	149730801		2203	4300	6503	SO:0001583	missense	0			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.2028G>T	6.37:g.149730801G>T	ENSP00000356426:p.Leu676Phe		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.L676F	ENST00000367456.1	37	c.2028	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018854	0.54576	.	.	ENSG00000055208	ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.87	5.87	0.94306	Zinc finger, RanBP2-type (4);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.68317	2.08	0.80722	D	1	P;D	0.76494	0.849;0.999	P;D	0.91635	0.602;0.999	T	0.61628	-0.7024	10	0.87932	D	0	0.0073	8.0339	0.30480	0.1846:0.0:0.8154:0.0	.	644;676	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	F	644;676;676;676	ENSP00000443206:L644F;ENSP00000445752:L676F;ENSP00000356426:L676F;ENSP00000286332:L676F	ENSP00000286332:L676F	L	+	3	2	TAB2	149772494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.156000	0.42310	2.941000	0.99782	0.655000	0.94253	TTG	TAB2	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	ENSG00000055208		0.428	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3	-	0	70	0	G			149730801	1	tier1	-	no_errors	ENST00000286332	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	149730801	G	T	149730801	3	4	134	1	0	0	0	0	1	0	0	0	15543	1281	45	3	2050	3	TAB2	6	149730801	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	23396625	149730801	21384266	66	34518											
AKAP12	9590	genome.wustl.edu	37	chr6	151673526	151673527	+	Frame_Shift_Del	DEL	GA	GA	-																															agtctcctccatcccccgtgGagagagagatggtagttcaa																								rs374754660		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:151673526_151673527delGA	ENST00000253332.1	+	3	4189_4190	c.4000_4001delGA	c.(4000-4002)gagfs	p.E1334fs	AKAP12_ENST00000359755.5_Frame_Shift_Del_p.E1229fs|AKAP12_ENST00000402676.2_Frame_Shift_Del_p.E1334fs|AKAP12_ENST00000354675.6_Frame_Shift_Del_p.E1236fs			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1334					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)		ATCCCCCGTGGAGAGAGAGATG	0.47																																					Melanoma(141;1616 1805 10049 24534 51979)												0																																										SO:0001589	frameshift_variant	0			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.4000_4001delGA	6.37:g.151673534_151673535delGA	ENSP00000253332:p.Glu1334fs		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Del	DEL	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.E1336fs	ENST00000253332.1	37	c.4000_4001	CCDS5229.1	6																																																																																			AKAP12	-	NULL	ENSG00000131016		0.47	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1		0	42	0	GA			151673527	1	tier1		no_errors	ENST00000253332	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.002:0.006	-	-	151673527	GA	-	151673526	7	5	134	1	0	1	0	1	0	0	0	0	448	1175	41	0	4039	0	AKAP12	6	151673526	Frame_Shift_Del	DEL	GA	TCGA-LN-A9FQ-01A-31D-A387-09	1942725	151673526	19441541	67	34519											
LPA	4018	genome.wustl.edu	37	chr6	160978445	160978445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcagaatgagcctccatgCttggaactggaacaacagtg	12	9	10	10	0	1	2	1	1	0	1	2	4	2	4	2	2	5	1	2	2	4	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr6:160978445C>A	ENST00000316300.5	-	29	4834	c.4790G>T	c.(4789-4791)aGc>aTc	p.S1597I	LPA_ENST00000447678.1_Missense_Mutation_p.S1597I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4105	Kringle 14. {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)	AGCCTCCATGCTTGGAACTGG	0.458																																																	0													128	122	124					6																	160978445		1957	4184	6141	SO:0001583	missense	0			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.4790G>T	6.37:g.160978445C>A	ENSP00000321334:p.Ser1597Ile		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.S1597I	ENST00000316300.5	37	c.4790	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	12.17	1.858674	0.32791	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.87412	-2.25;-2.25	2.39	2.39	0.29439	Kringle (1);	.	.	.	.	D	0.85500	0.5711	M	0.67953	2.075	0.09310	N	1	P	0.45531	0.86	P	0.55391	0.775	T	0.76307	-0.3007	9	0.72032	D	0.01	.	8.2461	0.31689	0.0:1.0:0.0:0.0	.	4105	P08519	APOA_HUMAN	I	1597	ENSP00000321334:S1597I;ENSP00000395608:S1597I	ENSP00000321334:S1597I	S	-	2	0	LPA	160898435	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.125000	0.15749	1.319000	0.45190	0.436000	0.28706	AGC	LPA	-	NULL	ENSG00000198670		0.458	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0	96	0	C	NM_005577		160978445	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	20.00	64	16	SNP	0.003	A	A	160978445	C	A	160978445	3	1	134	1	0	0	0	0	1	0	0	0	8938	797	28	3	1376	3	LPA	6	160978445	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	9304919	160978445	10136622	68	34520											
MMD2	221938	genome.wustl.edu	37	chr7	4947197	4947197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagtagaagacccctcCggtcaccagctcccagatgc	10	5	10	16	1	1	3	1	0	0	3	3	3	3	3	5	2	2	3	5	2	2	1	rs375097927		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:4947197C>T	ENST00000404774.3	-	7	837	c.643G>A	c.(643-645)Gga>Aga	p.G215R	MMD2_ENST00000406755.1_3'UTR|MMD2_ENST00000401401.3_Missense_Mutation_p.G191R	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	215						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		AAGACCCCTCCGGTCACCAGC	0.602																																																	0								C	ARG/GLY,ARG/GLY	0,4012		0,0,2006	73	77	76		643,571	5.6	0.8	7		76	1,8331		0,1,4165	no	missense,missense	MMD2	NM_001100600.1,NM_198403.3	125,125	0,1,6171	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging	215/271,191/247	4947197	1,12343	2006	4166	6172	SO:0001583	missense	0			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.643G>A	7.37:g.4947197C>T	ENSP00000384690:p.Gly215Arg		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	pfam_HlyIII-related	p.G215R	ENST00000404774.3	37	c.643	CCDS47529.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.205675	0.95033	0.0	1.2E-4	ENSG00000136297	ENST00000404774;ENST00000401401	T;T	0.35236	1.32;1.32	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	H	0.95043	3.615	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72075	0.976;0.967	T	0.81044	-0.1111	10	0.72032	D	0.01	-10.8961	18.6698	0.91507	0.0:1.0:0.0:0.0	.	215;191	Q8IY49;Q8IY49-2	PAQRA_HUMAN;.	R	215;191	ENSP00000384690:G215R;ENSP00000384141:G191R	ENSP00000384141:G191R	G	-	1	0	MMD2	4913723	1.000000	0.71417	0.846000	0.33378	0.775000	0.43874	7.681000	0.84073	2.653000	0.90120	0.650000	0.86243	GGA	MMD2	-	pfam_HlyIII-related	ENSG00000136297		0.602	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	HGNC	protein_coding	OTTHUMT00000324136.1	-	0	25	0	C	NM_198403		4947197	-1	tier1	-	no_errors	ENST00000404774	ensembl	human	known	74_37	missense	33.33	32	16	SNP	1.000	T	T	4947197	C	T	4947197	3	4	134	1	0	0	0	0	1	0	0	0	9682	661	23	1	173	1	MMD2	7	4947197	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09		4947197	154191466	69	34521											
MEOX2	4223	genome.wustl.edu	37	chr7	15725593	15725593	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tggcggccgtagtcccccggCgcgcacgcggccccagtcgg	3	4	16	18	8	0	0	0	0	0	0	2	0	1	0	5	5	0	2	5	5	1	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:15725593C>T	ENST00000262041.5	-	1	844	c.435G>A	c.(433-435)gcG>gcA	p.A145A	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	145					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)			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)		AGTCCCCCGGCGCGCACGCGG	0.706																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												0													28	35	33					7																	15725593		2184	4258	6442	SO:0001819	synonymous_variant	0				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.435G>A	7.37:g.15725593C>T			B2R8I7|O75263|Q9UPL6	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A145	ENST00000262041.5	37	c.435	CCDS34605.1	7																																																																																			MEOX2	-	NULL	ENSG00000106511		0.706	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2	-	0	56	0	C	NM_005924		15725593	-1	tier1	-	no_errors	ENST00000262041	ensembl	human	known	74_37	silent	41.27	36	26	SNP	0.998	T	T	15725593	C	T	15725593	2	4	134	1	0	0	0	0	0	0	0	1	9512	755	27	1		1	MEOX2	7	15725593	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	10778396	15725593	143413070	70	34522											
ADCYAP1R1	117	genome.wustl.edu	37	chr7	31123825	31123825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttccctcattactttgatgCctgtgggtttgatgaatatg	7	17	9	8	0	1	3	1	3	0	0	2	3	2	3	2	1	2	1	2	1	3	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:31123825C>T	ENST00000304166.4	+	7	687	c.398C>T	c.(397-399)gCc>gTc	p.A133V	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.A112V|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.A133V|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.A133V	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	133	Important for ligand binding and specificity.				activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TACTTTGATGCCTGTGGGTTT	0.547																																					Ovarian(44;225 1186 2158 11092)												0													178	170	173					7																	31123825		2203	4300	6503	SO:0001583	missense	0				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.398C>T	7.37:g.31123825C>T	ENSP00000306620:p.Ala133Val		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.A133V	ENST00000304166.4	37	c.398	CCDS5433.1	7	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863338	0.32884	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.66280	0.46;-0.2;0.46;0.46	5.66	4.78	0.61160	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	L	0.50333	1.59	0.53688	D	0.999977	B;P;P;B;B	0.48589	0.08;0.912;0.678;0.304;0.091	B;P;B;B;B	0.51297	0.1;0.665;0.437;0.094;0.259	T	0.65594	-0.6130	10	0.45353	T	0.12	.	12.3705	0.55252	0.0:0.9185:0.0:0.0815	.	133;133;133;112;133	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	V	133;112;133;133	ENSP00000306620:A133V;ENSP00000387335:A112V;ENSP00000379514:A133V;ENSP00000386395:A133V	ENSP00000306620:A133V	A	+	2	0	ADCYAP1R1	31090350	0.978000	0.34361	0.531000	0.27976	0.311000	0.27955	2.310000	0.43708	1.386000	0.46466	-0.259000	0.10710	GCC	ADCYAP1R1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000078549		0.547	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	-	0	57	0	C	NM_001118		31123825	1	tier1	-	no_errors	ENST00000304166	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.940	T	T	31123825	C	T	31123825	3	4	134	1	0	0	0	0	1	0	0	0	303	739	26	3	420	3	ADCYAP1R1	7	31123825	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	15398232	31123825	128014838	71	34523											
TBX20	57057	genome.wustl.edu	37	chr7	35242238	35242238	+	Missense_Mutation	SNP	A	A	G	1	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	atggtggcagagaaccctggAtggggtgaggaatgggtgtt	9	9	19	4	0	0	2	0	1	0	1	0	5	0	4	1	7	1	2	1	7	2	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:35242238A>G	ENST00000408931.3	-	8	1674	c.1148T>C	c.(1147-1149)aTc>aCc	p.I383T		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	383					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGAACCCTGGATGGGGTGAGG	0.552																																																	0													88	88	88					7																	35242238		1996	4168	6164	SO:0001583	missense	0			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1148T>C	7.37:g.35242238A>G	ENSP00000386170:p.Ile383Thr		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.I383T	ENST00000408931.3	37	c.1148	CCDS43568.1	7	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332408	0.81801	.	.	ENSG00000164532	ENST00000408931	D	0.87571	-2.27	5.46	5.46	0.80206	.	0.153965	0.56097	D	0.000030	T	0.78585	0.4306	N	0.19112	0.55	0.80722	D	1	B	0.23058	0.079	B	0.18263	0.021	T	0.73729	-0.3891	10	0.23302	T	0.38	.	15.5262	0.75910	1.0:0.0:0.0:0.0	.	383	Q9UMR3	TBX20_HUMAN	T	383	ENSP00000386170:I383T	ENSP00000386170:I383T	I	-	2	0	TBX20	35208763	1.000000	0.71417	0.907000	0.35723	0.981000	0.71138	8.923000	0.92808	2.060000	0.61445	0.496000	0.49642	ATC	TBX20	-	NULL	ENSG00000164532		0.552	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	-	0	82	0	A	NM_020417		35242238	-1	tier1	-	no_errors	ENST00000408931	ensembl	human	known	74_37	missense	35.53	49	27	SNP	0.998	G	G	35242238	A	G	35242238	3	3	134	1	0	0	0	0	1	0	0	0	15703	333	12	4	198	4	TBX20	7	35242238	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09	4118413	35242238	123896425	72	34524											
IKZF1	10320	genome.wustl.edu	37	chr7	50467846	50467846	+	Missense_Mutation	SNP	T	T	A	0	1	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	tcgcggagggcaccccgcgcTccaaccactcggcccaggac	7	3	12	19	5	0	0	0	0	0	0	3	2	1	2	5	4	1	2	5	4	1	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:50467846T>A	ENST00000331340.3	+	8	1236	c.1081T>A	c.(1081-1083)Tcc>Acc	p.S361T	IKZF1_ENST00000346667.4_Missense_Mutation_p.S131T|IKZF1_ENST00000439701.1_Missense_Mutation_p.S319T|IKZF1_ENST00000359197.5_Missense_Mutation_p.S319T|IKZF1_ENST00000357364.4_Missense_Mutation_p.S274T|IKZF1_ENST00000343574.5_Missense_Mutation_p.S274T|IKZF1_ENST00000438033.1_Missense_Mutation_p.S274T|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.S218T	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)	361					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACCCCGCGCTCCAACCACTC	0.711			"D,T"	BCL6	"ALL, DLBCL"																																			"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)											8	12	11					7																	50467846		1972	4083	6055	SO:0001583	missense	0			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.1081T>A	7.37:g.50467846T>A	ENSP00000331614:p.Ser361Thr		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S361T	ENST00000331340.3	37	c.1081		7	.	.	.	.	.	.	.	.	.	.	T	4.846	0.157258	0.09236	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.06294	4.71;3.32;3.41;4.43;3.46;3.4;3.32;3.41	5.38	-10.8	0.00216	.	0.834713	0.11403	N	0.567563	T	0.02380	0.0073	.	.	.	0.25133	N	0.990551	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.0	B;B;B;B;B	0.15484	0.013;0.0;0.004;0.004;0.004	T	0.28427	-1.0044	9	0.17369	T	0.5	-3.1727	4.8178	0.13376	0.1383:0.3458:0.3485:0.1675	.	274;131;274;319;361	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	T	131;274;319;218;274;361;274;319	ENSP00000340080:S131T;ENSP00000342750:S274T;ENSP00000352123:S319T;ENSP00000342485:S218T;ENSP00000349928:S274T;ENSP00000331614:S361T;ENSP00000396554:S274T;ENSP00000413025:S319T	ENSP00000331614:S361T	S	+	1	0	IKZF1	50435340	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-1.097000	0.03349	-3.495000	0.00152	-1.090000	0.02178	TCC	IKZF1	-	NULL	ENSG00000185811		0.711	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	-	0	30	0	T	NM_006060		50467846	1	tier1	-	no_errors	ENST00000331340	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.000	A	A	50467846	T	A	50467846	3	1	134	1	0	0	0	0	1	0	0	0	7641	1551	54	5	1107	5	IKZF1	7	50467846	Missense_Mutation	SNP	T	TCGA-LN-A9FQ-01A-31D-A387-09	15225608	50467846	108670817	73	34525											
PCLO	27445	genome.wustl.edu	37	chr7	82544283	82544283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgactaattggcaaactgGtcggcttagttctggcagag	9	13	12	7	1	1	2	0	1	1	1	2	2	1	2	0	4	1	4	0	4	3	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:82544283G>C	ENST00000333891.9	-	7	13356	c.13019C>G	c.(13018-13020)aCc>aGc	p.T4340S	PCLO_ENST00000423517.2_Missense_Mutation_p.T4340S|PCLO_ENST00000437081.1_Missense_Mutation_p.T1060S	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						TGGCAAACTGGTCGGCTTAGT	0.463																																																	0													95	92	93					7																	82544283		1885	4110	5995	SO:0001583	missense	0			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.13019C>G	7.37:g.82544283G>C	ENSP00000334319:p.Thr4340Ser			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.T4340S	ENST00000333891.9	37	c.13019	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	6.696	0.496981	0.12762	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.13901	2.56;2.55	5.79	5.79	0.91817	.	.	.	.	.	T	0.20129	0.0484	L	0.35414	1.06	0.58432	D	0.999994	B;P;P	0.47545	0.379;0.897;0.897	B;P;P	0.48089	0.064;0.566;0.566	T	0.00215	-1.1911	9	0.87932	D	0	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	4271;4340;4340	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	S	4340;4340;1060	ENSP00000334319:T4340S;ENSP00000388393:T4340S	ENSP00000334319:T4340S	T	-	2	0	PCLO	82382219	1.000000	0.71417	0.994000	0.49952	0.925000	0.55904	9.869000	0.99810	2.753000	0.94483	0.557000	0.71058	ACC	PCLO	-	NULL	ENSG00000186472		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	78	0	G	NM_014510		82544283	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	35.38	42	23	SNP	0.999	C	C	82544283	G	C	82544283	3	2	134	1	0	0	0	0	1	0	0	0	11622	1261	44	5	2502	5	PCLO	7	82544283	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	32076437	82544283	76594380	74	34526											
ADAM22	53616	genome.wustl.edu	37	chr7	87811331	87811331	+	Frame_Shift_Del	DEL	T	T	-																															agatttagacctcggtctaaTtcaactgagtaagtctgaac																										TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:87811331delT	ENST00000265727.7	+	29	2647	c.2568delT	c.(2566-2568)aatfs	p.N856fs	ADAM22_ENST00000476330.1_3'UTR|ADAM22_ENST00000398209.3_Frame_Shift_Del_p.N820fs|ADAM22_ENST00000398201.4_Frame_Shift_Del_p.N856fs|ADAM22_ENST00000398204.4_Frame_Shift_Del_p.N820fs|ADAM22_ENST00000315984.7_Frame_Shift_Del_p.N820fs			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	856					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)			CTCGGTCTAATTCAACTGAGT	0.373																																																	0													77	79	78					7																	87811331		1828	4075	5903	SO:0001589	frameshift_variant	0			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.2568delT	7.37:g.87811331delT	ENSP00000265727:p.Asn856fs		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Frame_Shift_Del	DEL	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.S857fs	ENST00000265727.7	37	c.2568	CCDS47637.1	7																																																																																			ADAM22	-	NULL	ENSG00000008277		0.373	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2		0	28	0	T	NM_021723		87811331	1	tier1		no_errors	ENST00000265727	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000	-	-	87811331	T	-	87811331	7	5	134	1	0	1	0	1	0	0	0	0	244	1490	52	0	2682	0	ADAM22	7	87811331	Frame_Shift_Del	DEL	T	TCGA-LN-A9FQ-01A-31D-A387-09	5267048	87811331	71327332	75	34527											
STEAP4	79689	genome.wustl.edu	37	chr7	87913329	87913329	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taattctgtgagaaaatcatAatgctctctgtggattgcta	12	15	8	6	0	3	1	1	1	2	1	4	3	3	2	0	1	2	2	0	1	5	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:87913329A>C	ENST00000380079.4	-	2	357	c.256T>G	c.(256-258)Tat>Gat	p.Y86D	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.Y86D|STEAP4_ENST00000414498.1_Missense_Mutation_p.Y86D	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	86					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)					AGAAAATCATAATGCTCTCTG	0.408																																																	0													144	137	139					7																	87913329		1849	4089	5938	SO:0001583	missense	0			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.256T>G	7.37:g.87913329A>C	ENSP00000369419:p.Tyr86Asp		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.Y86D	ENST00000380079.4	37	c.256	CCDS43611.1	7	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939415	0.73557	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	T;T;T	0.44083	0.93;0.93;0.93	5.91	5.91	0.95273	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.71871	2.18	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.995;0.995	T	0.68172	-0.5479	10	0.87932	D	0	-8.1195	16.3469	0.83138	1.0:0.0:0.0:0.0	.	86;86;86	Q687X5-2;C9JS50;Q687X5	.;.;STEA4_HUMAN	D	86	ENSP00000369419:Y86D;ENSP00000305545:Y86D;ENSP00000394399:Y86D	ENSP00000305545:Y86D	Y	-	1	0	STEAP4	87751265	1.000000	0.71417	0.960000	0.40013	0.951000	0.60555	9.323000	0.96364	2.263000	0.75096	0.528000	0.53228	TAT	STEAP4	-	NULL	ENSG00000127954		0.408	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP4	HGNC	protein_coding	OTTHUMT00000332712.4	-	0	93	0	A	NM_024636		87913329	-1	tier1	-	no_errors	ENST00000380079	ensembl	human	known	74_37	missense	33.67	65	33	SNP	1.000	C	C	87913329	A	C	87913329	3	2	134	1	0	0	0	0	1	0	0	0	15327	362	13	4	1139	4	STEAP4	7	87913329	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09	101998	87913329	71225334	76	34528											
EPHB4	2050	genome.wustl.edu	37	chr7	100417902	100417902	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgacaggggcttgaaGgtgccctgggcacaggctga	7	8	15	11	0	1	3	0	3	1	0	2	3	1	3	2	5	1	3	2	5	1	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:100417902G>T	ENST00000358173.3	-	5	1293	c.825C>A	c.(823-825)acC>acA	p.T275T	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.T275T|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	275	Cys-rich.				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)					GGGGCTTGAAGGTGCCCTGGG	0.577																																					GBM(200;2113 3072 25865 52728)												0													107	121	116					7																	100417902		2203	4300	6503	SO:0001819	synonymous_variant	0			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.825C>A	7.37:g.100417902G>T			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.T275	ENST00000358173.3	37	c.825	CCDS5706.1	7																																																																																			EPHB4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom	ENSG00000196411		0.577	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1		0	45	0	G	NM_004444		100417902	-1			no_errors	ENST00000358173	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	T	T	100417902	G	T	100417902	2	4	134	1	0	0	0	0	0	0	0	1	5193	987	35	3		3	EPHB4	7	100417902	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	12504573	100417902	58720761	77	34529											
RNF148	378925	genome.wustl.edu	37	chr7	122342776	122342776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaaacagaactatgcGtcgaaggggtaattctaagg	15	8	12	6	2	1	3	0	1	1	2	2	4	1	3	0	3	3	1	0	3	6	4	rs368198874		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:122342776G>A	ENST00000434824.1	-	1	245	c.29C>T	c.(28-30)aCg>aTg	p.T10M	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.T10M|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	10						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AGAACTATGCGTCGAAGGGGT	0.388																																																	0								G	,,,MET/THR	1,3723		0,1,1861	29	26	27		,,,29	-3.6	0	7		27	0,8196		0,0,4098	no	intron,intron,intron,missense	CADPS2,RNF148	NM_001009571.3,NM_001167940.1,NM_017954.10,NM_198085.1	,,,81	0,1,5959	AA,AG,GG		0.0,0.0269,0.0084	,,,possibly-damaging	,,,10/306	122342776	1,11919	1862	4098	5960	SO:0001583	missense	0			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"RING-type (C3HC4) zinc fingers"	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.29C>T	7.37:g.122342776G>A	ENSP00000388207:p.Thr10Met		A4D0X4|Q8N308	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T10M	ENST00000434824.1	37	c.29	CCDS47692.1	7	.	.	.	.	.	.	.	.	.	.	G	0.281	-0.986571	0.02180	2.69E-4	0.0	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.04603	3.59	5.24	-3.56	0.04626	.	.	.	.	.	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	P;P	0.39131	0.661;0.53	B;B	0.24701	0.055;0.025	T	0.40794	-0.9544	9	0.46703	T	0.11	.	1.1907	0.01864	0.2388:0.3191:0.2718:0.1702	.	10;10	C9JVJ0;Q8N7C7	.;RN148_HUMAN	M	10	ENSP00000388207:T10M	ENSP00000388207:T10M	T	-	2	0	RNF148	122130012	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.988000	0.03739	-0.310000	0.08766	0.555000	0.69702	ACG	RNF148	-	NULL	ENSG00000235631		0.388	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF148	HGNC	protein_coding	OTTHUMT00000347424.1	-	0	49	0	G	NM_198085		122342776	-1	tier1	-	no_errors	ENST00000434824	ensembl	human	known	74_37	missense	47.06	18	16	SNP	0.000	A	A	122342776	G	A	122342776	3	1	134	1	0	0	0	0	1	0	0	0	13494	1145	40	1	892	1	RNF148	7	122342776	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	21924874	122342776	36795887	78	34530											
DENND2A	27147	genome.wustl.edu	37	chr7	140257953	140257953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtactcaccagcagtcttCggcagtaaccgaaccttctg	10	10	8	13	2	3	0	1	0	2	0	4	1	3	0	3	1	4	4	3	1	3	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:140257953C>T	ENST00000275884.6	-	10	2366	c.1949G>A	c.(1948-1950)cGa>cAa	p.R650Q	DENND2A_ENST00000537639.1_Missense_Mutation_p.R650Q|DENND2A_ENST00000496613.1_Missense_Mutation_p.R650Q|DENND2A_ENST00000492720.1_Missense_Mutation_p.R650Q			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	650	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAGCAGTCTTCGGCAGTAACC	0.483																																																	0													75	74	74					7																	140257953		1978	4152	6130	SO:0001583	missense	0			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.1949G>A	7.37:g.140257953C>T	ENSP00000275884:p.Arg650Gln		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R650Q	ENST00000275884.6	37	c.1949	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.590884	0.96590	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.72	5.72	0.89469	uDENN (3);	0.000000	0.64402	D	0.000001	T	0.76442	0.3988	M	0.90369	3.11	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.992	T	0.80549	-0.1333	10	0.72032	D	0.01	-9.064	19.877	0.96880	0.0:1.0:0.0:0.0	.	650;650	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	Q	650	ENSP00000275884:R650Q;ENSP00000442245:R650Q;ENSP00000419654:R650Q;ENSP00000419464:R650Q	ENSP00000275884:R650Q	R	-	2	0	DENND2A	139904422	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	7.487000	0.81328	2.709000	0.92574	0.561000	0.74099	CGA	DENND2A	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000146966		0.483	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1		0	25	0	C	NM_015689		140257953	-1			no_errors	ENST00000275884	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	140257953	C	T	140257953	3	4	134	1	0	0	0	0	1	0	0	0	4443	884	31	1	1120	1	DENND2A	7	140257953	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	17915177	140257953	18880710	79	34531											
TAS2R60	338398	genome.wustl.edu	37	chr7	143141198	143141198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ttgcatgattttgctcatcaCatctctgggaagacacagga	11	12	9	9	0	3	2	2	1	1	1	4	4	3	4	0	2	2	2	0	2	1	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr7:143141198C>T	ENST00000332690.1	+	1	653	c.653C>T	c.(652-654)aCa>aTa	p.T218I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	218					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTGCTCATCACATCTCTGGGA	0.463																																																	0													135	135	135					7																	143141198		2203	4300	6503	SO:0001583	missense	0			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.653C>T	7.37:g.143141198C>T	ENSP00000327724:p.Thr218Ile		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.T218I	ENST00000332690.1	37	c.653	CCDS5885.1	7	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298642	0.23650	.	.	ENSG00000185899	ENST00000332690	T	0.35605	1.3	5.62	-2.67	0.06059	.	0.759878	0.11841	N	0.524283	T	0.19927	0.0479	L	0.28556	0.865	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.26467	-1.0102	10	0.18710	T	0.47	.	5.8637	0.18762	0.1318:0.3375:0.0:0.5307	.	218	P59551	T2R60_HUMAN	I	218	ENSP00000327724:T218I	ENSP00000327724:T218I	T	+	2	0	TAS2R60	142851320	0.000000	0.05858	0.000000	0.03702	0.496000	0.33645	-1.436000	0.02421	-1.008000	0.03404	0.591000	0.81541	ACA	TAS2R60	-	pfam_TAS2_rcpt	ENSG00000185899		0.463	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R60	HGNC	protein_coding	OTTHUMT00000337541.1		0	22	0	C			143141198	1			no_errors	ENST00000332690	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.000	T	T	143141198	C	T	143141198	3	4	134	1	0	0	0	0	1	0	0	0	15632	478	17	3	655	3	TAS2R60	7	143141198	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	2883245	143141198	15997465	80	34532											
ZFHX4	79776	genome.wustl.edu	37	chr8	77775618	77775618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaaagaggaaaaaatctCatctgctctttcagtgttgg	15	11	8	7	0	4	1	2	0	3	1	5	2	4	2	0	2	1	2	0	2	6	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:77775618C>T	ENST00000521891.2	+	11	10116	c.9668C>T	c.(9667-9669)tCa>tTa	p.S3223L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3174L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3178L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3197L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3174					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)			GAAAAAATCTCATCTGCTCTT	0.423										HNSCC(33;0.089)																																							0													139	133	135					8																	77775618		1872	4109	5981	SO:0001583	missense	0				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.9668C>T	8.37:g.77775618C>T	ENSP00000430497:p.Ser3223Leu		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S3223L	ENST00000521891.2	37	c.9668	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168524	0.38315	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51574	0.7;0.75;0.72;0.72	4.71	3.81	0.43845	.	0.000000	0.35096	U	0.003444	T	0.57519	0.2059	M	0.63843	1.955	0.42650	D	0.993444	D	0.62365	0.991	P	0.53401	0.725	T	0.65047	-0.6263	10	0.66056	D	0.02	.	15.212	0.73230	0.0:0.8587:0.1413:0.0	.	3178	Q86UP3-4	.	L	3223;3207;3178;3174;3197	ENSP00000430497:S3223L;ENSP00000399605:S3178L;ENSP00000050961:S3174L;ENSP00000430848:S3197L	ENSP00000050961:S3174L	S	+	2	0	ZFHX4	77938173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.301000	0.72782	1.315000	0.45114	0.561000	0.74099	TCA	ZFHX4	-	NULL	ENSG00000091656		0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	40	0	C	NM_024721		77775618	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	33.33	34	17	SNP	1.000	T	T	77775618	C	T	77775618	3	4	134	1	0	0	0	0	1	0	0	0	17683	838	29	3	9706	3	ZFHX4	8	77775618	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09		77775618	68588404	81	34533											
WWP1	11059	genome.wustl.edu	37	chr8	87393820	87393820	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttattaggaaaagcaacgaTagatttgaaacaagctctgt	16	12	8	5	1	1	2	0	1	1	1	1	4	1	3	0	1	4	2	0	1	8	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:87393820T>A	ENST00000517970.1	+	5	603	c.296T>A	c.(295-297)aTa>aAa	p.I99K	WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Missense_Mutation_p.I99K|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000341922.2_Missense_Mutation_p.I99K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	99					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						AAAGCAACGATAGATTTGAAA	0.328																																																	0													63	66	65					8																	87393820		2203	4300	6503	SO:0001583	missense	0			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.296T>A	8.37:g.87393820T>A	ENSP00000427793:p.Ile99Lys		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.I99K	ENST00000517970.1	37	c.296	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	T	16.28	3.080004	0.55753	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000436619	T;T;T	0.71341	-0.56;-0.56;-0.56	4.83	4.83	0.62350	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.479050	0.21518	N	0.073280	T	0.61148	0.2324	N	0.24115	0.695	0.80722	D	1	B	0.23185	0.081	B	0.29440	0.102	T	0.62393	-0.6864	10	0.87932	D	0	.	14.6957	0.69121	0.0:0.0:0.0:1.0	.	99	Q9H0M0	WWP1_HUMAN	K	99	ENSP00000427793:I99K;ENSP00000265428:I99K;ENSP00000340564:I99K	ENSP00000265428:I99K	I	+	2	0	WWP1	87462936	1.000000	0.71417	0.874000	0.34290	0.854000	0.48673	7.092000	0.76930	1.924000	0.55735	0.383000	0.25322	ATA	WWP1	-	superfamily_C2_dom,smart_C2_dom	ENSG00000123124		0.328	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1	-	0	53	0	T	NM_007013		87393820	1	tier1	-	no_errors	ENST00000265428	ensembl	human	known	74_37	missense	27.59	42	16	SNP	0.993	A	A	87393820	T	A	87393820	3	1	134	1	0	0	0	0	1	0	0	0	17464	1406	49	5	306	5	WWP1	8	87393820	Missense_Mutation	SNP	T	TCGA-LN-A9FQ-01A-31D-A387-09	9618202	87393820	58970202	82	34534											
OSR2	116039	genome.wustl.edu	37	chr8	99961213	99961213	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctgccagcgcccatcccGctccacccgtcgctgcagct	4	7	9	21	4	1	0	0	0	1	0	4	0	3	0	5	0	4	5	5	0	0	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:99961213G>T	ENST00000297565.4	+	2	529	c.33G>T	c.(31-33)ccG>ccT	p.P11P	OSR2_ENST00000522510.1_Silent_p.P11P|OSR2_ENST00000523368.1_Silent_p.P11P|OSR2_ENST00000457907.2_Silent_p.P132P|OSR2_ENST00000435298.2_Silent_p.P11P	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	11					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CGCCCATCCCGCTCCACCCGT	0.652																																																	0													46	51	49					8																	99961213		2035	4178	6213	SO:0001819	synonymous_variant	0			AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"Zinc fingers, C2H2-type"	15830	protein-coding gene	gene with protein product		611297	"odd-skipped related 2 (Drosophila)"				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.33G>T	8.37:g.99961213G>T			A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P132	ENST00000297565.4	37	c.396	CCDS47901.1	8																																																																																			OSR2	-	NULL	ENSG00000164920		0.652	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSR2	HGNC	protein_coding	OTTHUMT00000379505.1		0	44	0	G	NM_053001		99961213	1			no_errors	ENST00000457907	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.993	T	T	99961213	G	T	99961213	2	4	134	1	0	0	0	0	0	0	0	1	11333	1074	38	2		2	OSR2	8	99961213	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	12567393	99961213	46402809	83	34535											
VPS13B	157680	genome.wustl.edu	37	chr8	100523600	100523600	+	Frame_Shift_Del	DEL	A	A	-																															agcaaaactaccaaagacccAaaaagagaaaagaaaatctc																										TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:100523600delA	ENST00000358544.2	+	29	4679	c.4568delA	c.(4567-4569)caafs	p.Q1523fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.Q1498fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1523					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)			CCAAAGACCCAAAAAGAGAAA	0.353																																					Colon(161;2205 2542 7338 31318)												0													54	52	53					8																	100523600		2203	4300	6503	SO:0001589	frameshift_variant	0			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.4568delA	8.37:g.100523600delA	ENSP00000351346:p.Gln1523fs		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	pfam_Autophagy-rel_C	p.E1525fs	ENST00000358544.2	37	c.4568	CCDS6280.1	8																																																																																			VPS13B	-	NULL	ENSG00000132549		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1		0	31	0	A	NM_184042		100523600	1	tier1		no_errors	ENST00000358544	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	1.000	-	-	100523600	A	-	100523600	7	5	134	1	0	1	0	1	0	0	0	0	17239	130	5	0	4872	0	VPS13B	8	100523600	Frame_Shift_Del	DEL	A	TCGA-LN-A9FQ-01A-31D-A387-09	562387	100523600	45840422	84	34536											
GRHL2	79977	genome.wustl.edu	37	chr8	102555584	102555584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttggagaatcccctgacaGcagccaccaaggccatgatg	12	6	10	13	0	0	3	0	2	0	1	1	4	1	3	5	2	2	1	5	2	2	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:102555584G>A	ENST00000251808.3	+	2	474	c.136G>A	c.(136-138)Gca>Aca	p.A46T	GRHL2_ENST00000395927.1_Missense_Mutation_p.A30T	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	46	Transcription activation.				brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A46T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TCCCCTGACAGCAGCCACCAA	0.552																																																	1	Substitution - Missense(1)	lung(1)											122	120	120					8																	102555584		2203	4300	6503	SO:0001583	missense	0			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.136G>A	8.37:g.102555584G>A	ENSP00000251808:p.Ala46Thr		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.A46T	ENST00000251808.3	37	c.136	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.228611	0.95173	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.58358	0.34;0.34	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.996	T	0.78089	-0.2340	10	0.87932	D	0	-24.238	20.1496	0.98084	0.0:0.0:1.0:0.0	.	46;46;46	B4DL28;Q6ISB3;A8K9Y8	.;GRHL2_HUMAN;.	T	46;30;46	ENSP00000251808:A46T;ENSP00000379260:A30T	ENSP00000251808:A46T	A	+	1	0	GRHL2	102624760	1.000000	0.71417	0.688000	0.30117	0.625000	0.37756	9.864000	0.99589	2.755000	0.94549	0.655000	0.94253	GCA	GRHL2	-	NULL	ENSG00000083307		0.552	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1		0	44	0	G	NM_024915		102555584	1			no_errors	ENST00000251808	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A	A	102555584	G	A	102555584	3	1	134	1	0	0	0	0	1	0	0	0	6791	971	34	3	142	3	GRHL2	8	102555584	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	2031984	102555584	43808438	85	34537											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110442220	110442220	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgactgtggatttacatgGgattccaacattactcccct	9	13	9	10	0	0	1	0	1	0	0	2	3	2	3	3	3	3	0	3	3	3	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:110442220G>A	ENST00000378402.5	+	27	3287	c.3183G>A	c.(3181-3183)tgG>tgA	p.W1061*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1061					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)			GATTTACATGGGATTCCAACA	0.398										HNSCC(38;0.096)																																							0													139	125	129					8																	110442220		1878	4115	5993	SO:0001587	stop_gained	0			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.3183G>A	8.37:g.110442220G>A	ENSP00000367655:p.Trp1061*		Q567P2|Q9UF27	Nonsense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.W1061*	ENST00000378402.5	37	c.3183	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	38	7.086407	0.98055	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1249	0.72475	0.0:0.0:1.0:0.0	.	.	.	.	X	1061	.	ENSP00000367655:W1061X	W	+	3	0	PKHD1L1	110511396	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	5.667000	0.68067	2.700000	0.92200	0.650000	0.86243	TGG	PKHD1L1	-	NULL	ENSG00000205038		0.398	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	113	0	G	NM_177531		110442220	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	nonsense	5.32	89	5	SNP	1.000	A	A	110442220	G	A	110442220	4	1	134	1	0	0	0	0	0	1	0	0	12011	1241	43	3	3289	3	PKHD1L1	8	110442220	Nonsense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	7886636	110442220	35921802	86	34538											
ASAP1	50807	genome.wustl.edu	37	chr8	131414169	131414169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcgacgaaaaactggagagCctggaggctgaagatctcat	13	7	12	9	2	1	3	1	1	1	2	3	7	1	4	1	3	2	1	1	3	3	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:131414169C>G	ENST00000518721.1	-	2	248	c.21G>C	c.(19-21)agG>agC	p.R7S	ASAP1_ENST00000520625.1_5'Flank|ASAP1_ENST00000357668.1_Missense_Mutation_p.R7S	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	7					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTGGAGAGCCTGGAGGCTG	0.522																																																	0													75	72	73					8																	131414169		2203	4300	6503	SO:0001583	missense	0			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.21G>C	8.37:g.131414169C>G	ENSP00000429900:p.Arg7Ser		B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.R7S	ENST00000518721.1	37	c.21	CCDS6362.1	8	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365636	0.41902	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.06371	3.31;3.31	6.03	6.03	0.97812	.	0.277119	0.28209	N	0.016189	T	0.06554	0.0168	N	0.02011	-0.69	0.36478	D	0.867684	D	0.54601	0.967	P	0.60789	0.879	T	0.53620	-0.8413	10	0.44086	T	0.13	.	11.331	0.49477	0.0:0.9184:0.0:0.0816	.	7	Q9ULH1	ASAP1_HUMAN	S	7	ENSP00000350297:R7S;ENSP00000429900:R7S	ENSP00000344591:R7S	R	-	3	2	ASAP1	131483351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.256000	0.51492	2.868000	0.98415	0.555000	0.69702	AGG	ASAP1	-	NULL	ENSG00000153317		0.522	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	-	0	30	0	C	NM_018482		131414169	-1	tier1	-	no_errors	ENST00000357668	ensembl	human	known	74_37	missense	20.00	52	13	SNP	1.000	G	G	131414169	C	G	131414169	3	3	134	1	0	0	0	0	1	0	0	0	1011	738	26	5	3484	5	ASAP1	8	131414169	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	20971949	131414169	14949853	87	34539											
FAM135B	51059	genome.wustl.edu	37	chr8	139164275	139164275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttccagagtcaccacaaaGttgagagcaagatcctgggg	12	8	12	9	0	1	3	1	1	0	3	3	4	3	3	3	2	1	3	3	2	2	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr8:139164275G>T	ENST00000395297.1	-	13	2613	c.2443C>A	c.(2443-2445)Ctt>Att	p.L815I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	815										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)			TCACCACAAAGTTGAGAGCAA	0.527										HNSCC(54;0.14)																																							0													71	67	69					8																	139164275		2203	4300	6503	SO:0001583	missense	0			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.2443C>A	8.37:g.139164275G>T	ENSP00000378710:p.Leu815Ile		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.L815I	ENST00000395297.1	37	c.2443	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	8.458	0.854661	0.17106	.	.	ENSG00000147724	ENST00000395297	T	0.14516	2.5	5.39	1.4	0.22301	.	1.082460	0.07002	N	0.823542	T	0.09555	0.0235	N	0.24115	0.695	0.09310	N	1	P;P;B	0.36535	0.557;0.557;0.148	B;B;B	0.38616	0.277;0.219;0.04	T	0.38067	-0.9678	10	0.19147	T	0.46	-0.0836	5.4074	0.16328	0.2504:0.0:0.5967:0.153	.	815;815;815	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	I	815	ENSP00000378710:L815I	ENSP00000276737:L815I	L	-	1	0	FAM135B	139233457	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	0.980000	0.29513	0.379000	0.24794	0.655000	0.94253	CTT	FAM135B	-	NULL	ENSG00000147724		0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	47	0	G	NM_015912		139164275	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.000	T	T	139164275	G	T	139164275	3	4	134	1	0	0	0	0	1	0	0	0	5468	1029	36	3	1809	3	FAM135B	8	139164275	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	7750106	139164275	7199747	88	34540											
DOCK8	81704	genome.wustl.edu	37	chr9	399160	399160	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaaggaaaatgaacaggcGgaaaagatgaacatcagcct	18	7	10	6	1	1	3	1	2	0	1	1	5	1	5	1	3	3	0	1	3	7	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:399160G>T	ENST00000453981.1	+	26	3247	c.3135G>T	c.(3133-3135)gcG>gcT	p.A1045A	DOCK8_ENST00000382329.1_Silent_p.A512A|DOCK8_ENST00000469391.1_Silent_p.A945A|DOCK8_ENST00000382331.1_Silent_p.A347A|DOCK8_ENST00000432829.2_Silent_p.A977A			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1045					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)		ATGAACAGGCGGAAAAGATGA	0.448																																																	0													148	129	136					9																	399160		2202	4300	6502	SO:0001819	synonymous_variant	0			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.3135G>T	9.37:g.399160G>T			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.A1045	ENST00000453981.1	37	c.3135	CCDS6440.2	9																																																																																			DOCK8	-	NULL	ENSG00000107099		0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5		0	45	0	G	XM_036307		399160	1			no_errors	ENST00000453981	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.002	T	T	399160	G	T	399160	2	4	134	1	0	0	0	0	0	0	0	1	4707	1103	39	2		2	DOCK8	9	399160	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09		399160	140814271	89	34541											
PHF2	5253	genome.wustl.edu	37	chr9	96428302	96428302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	taagaaggctgtgctgcccaCgcctgtcacgaagccaaagc	11	6	11	13	2	1	1	1	0	0	1	1	2	1	1	3	1	4	2	3	1	4	1	rs368672670		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:96428302C>T	ENST00000359246.4	+	16	2514	c.2147C>T	c.(2146-2148)aCg>aTg	p.T716M	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	716				AVLPTPVT -> EALLMPTS (in Ref. 1; AAD21791). {ECO:0000305}.	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)		GTGCTGCCCACGCCTGTCACG	0.632																																																	0									MET/THR	1,4405	2.1+/-5.4	0,1,2202	73	73	73		2147	0.2	0	9		73	0,8600		0,0,4300	no	missense	PHF2	NM_005392.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	716/1097	96428302	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2147C>T	9.37:g.96428302C>T	ENSP00000352185:p.Thr716Met		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.T716M	ENST00000359246.4	37	c.2147	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	c	4.947	0.175971	0.09443	2.27E-4	0.0	ENSG00000197724	ENST00000359246	T	0.18174	2.23	5.21	0.193	0.15139	.	0.569785	0.19113	N	0.122397	T	0.16896	0.0406	N	0.19112	0.55	0.19575	N	0.999964	B;D	0.71674	0.239;0.998	B;P	0.57101	0.023;0.813	T	0.13415	-1.0510	10	0.45353	T	0.12	-0.6587	8.1704	0.31252	0.0:0.5897:0.0:0.4103	.	134;716	Q8N359;O75151	.;PHF2_HUMAN	M	716	ENSP00000352185:T716M	ENSP00000352185:T716M	T	+	2	0	PHF2	95468123	0.015000	0.18098	0.003000	0.11579	0.055000	0.15305	0.084000	0.14891	-0.253000	0.09514	-0.963000	0.02626	ACG	PHF2	-	NULL	ENSG00000197724		0.632	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	-	0	62	0	C	NM_005392		96428302	1	tier1	-	no_errors	ENST00000359246	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.121	T	T	96428302	C	T	96428302	3	4	134	1	0	0	0	0	1	0	0	0	11869	536	19	1	2209	1	PHF2	9	96428302	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	96029142	96428302	44785129	90	34542											
LRRC8A	56262	genome.wustl.edu	37	chr9	131670459	131670459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcctcatctgcatgtataCactgtggtggatgctacggc	7	11	12	11	2	2	0	1	0	1	0	2	1	2	1	1	4	4	3	1	4	3	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:131670459C>T	ENST00000259324.5	+	3	1539	c.1016C>T	c.(1015-1017)aCa>aTa	p.T339I	LRRC8A_ENST00000372600.4_Missense_Mutation_p.T339I|LRRC8A_ENST00000372599.3_Missense_Mutation_p.T339I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	339					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						TGCATGTATACACTGTGGTGG	0.562																																																	0													195	143	161					9																	131670459		2203	4300	6503	SO:0001583	missense	0			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.1016C>T	9.37:g.131670459C>T	ENSP00000259324:p.Thr339Ile		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T339I	ENST00000259324.5	37	c.1016	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405951	0.62288	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.57436	0.4;0.4;0.4	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	L	0.41492	1.28	0.80722	D	1	D	0.62365	0.991	P	0.54924	0.764	T	0.63427	-0.6640	10	0.87932	D	0	.	18.1188	0.89565	0.0:1.0:0.0:0.0	.	339	Q8IWT6	LRC8A_HUMAN	I	339	ENSP00000361682:T339I;ENSP00000361680:T339I;ENSP00000259324:T339I	ENSP00000259324:T339I	T	+	2	0	LRRC8A	130710280	1.000000	0.71417	0.983000	0.44433	0.911000	0.54048	7.818000	0.86416	2.526000	0.85167	0.462000	0.41574	ACA	LRRC8A	-	NULL	ENSG00000136802		0.562	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2		0	12	0	C	NM_019594		131670459	1			no_errors	ENST00000259324	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	131670459	C	T	131670459	3	4	134	1	0	0	0	0	1	0	0	0	9056	478	17	3	1018	3	LRRC8A	9	131670459	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	35242157	131670459	9542972	91	34543											
NUP188	23511	genome.wustl.edu	37	chr9	131733123	131733123	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctcctccgtcacactctGaacccagaagagacaagcag	12	6	8	15	1	3	3	1	1	2	2	5	4	4	3	3	0	2	2	3	0	3	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:131733123G>T	ENST00000372577.2	+	11	1020	c.999G>T	c.(997-999)ctG>ctT	p.L333L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	333					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						GTCACACTCTGAACCCAGAAG	0.517																																																	0													166	151	156					9																	131733123		2203	4300	6503	SO:0001819	synonymous_variant	0			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.999G>T	9.37:g.131733123G>T			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.L333	ENST00000372577.2	37	c.999	CCDS35156.1	9																																																																																			NUP188	-	pfam_Nucleoporin_Nup188	ENSG00000095319		0.517	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	-	0	74	0	G			131733123	1	tier1	-	no_errors	ENST00000372577	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	T	T	131733123	G	T	131733123	2	4	134	1	0	0	0	0	0	0	0	1	10797	1277	45	3		3	NUP188	9	131733123	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	62664	131733123	9480308	92	34544											
ADAMTS13	11093	genome.wustl.edu	37	chr9	136307831	136307831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagccaccagcgtggcCagaggcctgcgtgctcgaac	8	4	13	16	3	0	1	0	0	0	1	1	2	0	1	5	2	6	2	5	2	1	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:136307831C>G	ENST00000371929.3	+	18	2645	c.2201C>G	c.(2200-2202)cCa>cGa	p.P734R	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P703R|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P734R|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	734					cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCAGCGTGGCCAGAGGCCTGC	0.662																																																	0													40	45	43					9																	136307831		2203	4300	6503	SO:0001583	missense	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2201C>G	9.37:g.136307831C>G	ENSP00000360997:p.Pro734Arg		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P734R	ENST00000371929.3	37	c.2201	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005749	0.35415	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.59638	0.25;0.25;0.25	5.48	-2.19	0.07015	.	.	.	.	.	T	0.39091	0.1065	L	0.31578	0.945	0.09310	N	1	P;P;P	0.36086	0.536;0.529;0.529	B;B;B	0.39217	0.154;0.294;0.294	T	0.32481	-0.9905	9	0.10902	T	0.67	.	7.1579	0.25647	0.6353:0.2102:0.0:0.1546	.	734;703;734	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	R	734;734;703	ENSP00000360997:P734R;ENSP00000347927:P734R;ENSP00000348997:P703R	ENSP00000347927:P734R	P	+	2	0	ADAMTS13	135297652	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.049000	0.11924	-0.236000	0.09753	0.655000	0.94253	CCA	ADAMTS13	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000160323		0.662	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	-	0	45	0	C	NM_139025		136307831	1	tier1	-	no_errors	ENST00000371929	ensembl	human	known	74_37	missense	51.43	17	18	SNP	0.000	G	G	136307831	C	G	136307831	3	3	134	1	0	0	0	0	1	0	0	0	258	594	21	5	2271	5	ADAMTS13	9	136307831	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	4574708	136307831	4905600	93	34545											
SEC16A	9919	genome.wustl.edu	37	chr9	139368647	139368647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtgcaggcactggctgtgGccacggctgctctgacggca	7	7	15	12	2	1	1	0	1	1	0	1	1	1	1	1	5	2	6	1	5	1	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr9:139368647G>T	ENST00000371706.3	-	1	2920	c.2887C>A	c.(2887-2889)Cca>Aca	p.P963T	SEC16A_ENST00000313050.7_Missense_Mutation_p.P1141T|SEC16A_ENST00000431893.2_Missense_Mutation_p.P963T|SEC16A_ENST00000290037.6_Missense_Mutation_p.P963T			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	963	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)		ACTGGCTGTGGCCACGGCTGC	0.672																																																	0													22	28	26					9																	139368647		2051	4183	6234	SO:0001583	missense	0			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.2887C>A	9.37:g.139368647G>T	ENSP00000360771:p.Pro963Thr		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.P1141T	ENST00000371706.3	37	c.3421		9	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423673	0.25639	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	T;T;T;T	0.25085	1.82;1.83;1.82;1.82	5.49	4.58	0.56647	.	0.669254	0.14624	N	0.308217	T	0.32793	0.0841	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.61080	0.981;0.989;0.989;0.966	P;P;P;P	0.55923	0.617;0.787;0.787;0.462	T	0.02263	-1.1186	10	0.30854	T	0.27	-0.317	15.0401	0.71785	0.0:0.0:0.8567:0.1433	.	1141;963;963;531	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	T	1141;963;963;963;531;65	ENSP00000325827:P1141T;ENSP00000360771:P963T;ENSP00000290037:P963T;ENSP00000387583:P963T	ENSP00000290037:P963T	P	-	1	0	SEC16A	138488468	0.980000	0.34600	0.858000	0.33744	0.174000	0.22865	2.221000	0.42917	1.421000	0.47157	0.462000	0.41574	CCA	SEC16A	-	NULL	ENSG00000148396		0.672	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1		0	44	0	G	XM_088459		139368647	-1			no_errors	ENST00000313050	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.995	T	T	139368647	G	T	139368647	3	4	134	1	0	0	0	0	1	0	0	0	14031	1203	42	3	3772	3	SEC16A	9	139368647	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	3060816	139368647	1844784	94	34546											
NRP1	8829	genome.wustl.edu	37	chr10	33619702	33619702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taattctctggtatgggtccGgagcctgaatcagccattcg	8	12	11	10	2	2	1	1	1	1	0	5	2	3	2	3	3	2	1	3	3	3	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:33619702G>T	ENST00000265371.4	-	3	707	c.182C>A	c.(181-183)cCg>cAg	p.P61Q	NRP1_ENST00000395995.1_Missense_Mutation_p.P61Q|NRP1_ENST00000432372.2_Missense_Mutation_p.P61Q|NRP1_ENST00000374823.5_Missense_Mutation_p.P61Q|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000374822.4_Missense_Mutation_p.P61Q|NRP1_ENST00000374816.3_Missense_Mutation_p.P61Q|NRP1_ENST00000374867.2_Missense_Mutation_p.P61Q|NRP1_ENST00000374821.5_Missense_Mutation_p.P61Q			O14786	NRP1_HUMAN	neuropilin 1	61	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTATGGGTCCGGAGCCTGAAT	0.453																																					Melanoma(104;886 1489 44640 45944 51153)												0													135	124	127					10																	33619702		2203	4300	6503	SO:0001583	missense	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.182C>A	10.37:g.33619702G>T	ENSP00000265371:p.Pro61Gln		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.P61Q	ENST00000265371.4	37	c.182	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166619	0.78339	.	.	ENSG00000099250	ENST00000265371;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.99	5.99	0.97316	CUB (5);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.79343	2.45	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.963;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.95;0.984;0.983;1.0;0.999	T	0.69997	-0.4993	10	0.87932	D	0	-21.2723	20.4777	0.99188	0.0:0.0:1.0:0.0	.	61;61;61;61;61;61;61;61	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.	Q	61	ENSP00000265371:P61Q;ENSP00000364001:P61Q;ENSP00000379317:P61Q;ENSP00000363955:P61Q;ENSP00000363954:P61Q;ENSP00000363956:P61Q;ENSP00000363949:P61Q	ENSP00000265371:P61Q	P	-	2	0	NRP1	33659708	1.000000	0.71417	0.879000	0.34478	0.998000	0.95712	9.370000	0.97159	2.840000	0.97914	0.655000	0.94253	CCG	NRP1	-	pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000099250		0.453	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	-	0	88	0	G			33619702	-1	tier1	-	no_errors	ENST00000265371	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	33619702	G	T	33619702	3	4	134	1	0	0	0	0	1	0	0	0	10699	1116	39	2	2664	2	NRP1	10	33619702	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09		33619702	101915045	95	34547											
ZNF248	57209	genome.wustl.edu	37	chr10	38121012	38121012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgtgttcgctgatggttgGtcaggtgtggtttctggcaa	5	16	15	5	1	2	1	1	1	1	0	3	1	2	1	0	5	0	5	0	5	2	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:38121012G>A	ENST00000395867.3	-	6	1821	c.1271C>T	c.(1270-1272)aCc>aTc	p.T424I	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.T424I|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTGATGGTTGGTCAGGTGTGG	0.433																																																	0													136	135	135					10																	38121012		2203	4299	6502	SO:0001583	missense	0			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"Zinc fingers, C2H2-type", "-"	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1271C>T	10.37:g.38121012G>A	ENSP00000379208:p.Thr424Ile		Q8NDV8|Q9UMP3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T424I	ENST00000395867.3	37	c.1271	CCDS7194.1	10	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491945	0.26774	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.07688	3.17;3.17	4.73	4.73	0.59995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000101	T	0.05090	0.0136	N	0.10664	0.02	0.33623	D	0.605125	P	0.46457	0.878	P	0.45660	0.489	T	0.30995	-0.9959	10	0.10377	T	0.69	.	10.5939	0.45325	0.0:0.0:0.8079:0.1921	.	424	Q8NDW4	ZN248_HUMAN	I	424	ENSP00000379208:T424I;ENSP00000349882:T424I	ENSP00000349882:T424I	T	-	2	0	ZNF248	38161018	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	0.639000	0.24690	2.619000	0.88677	0.650000	0.86243	ACC	ZNF248	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198105		0.433	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF248	HGNC	protein_coding	OTTHUMT00000047609.1		0	87	0	G	NM_021045		38121012	-1			no_errors	ENST00000357328	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.979	A	A	38121012	G	A	38121012	3	1	134	1	0	0	0	0	1	0	0	0	17841	1261	44	3	472	3	ZNF248	10	38121012	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	4501310	38121012	97413735	96	34548											
RNLS	55328	genome.wustl.edu	37	chr10	90342042	90342042	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgaggattatgaggactGcaggctgtagtcattcttcc	9	12	11	9	0	2	2	1	2	1	0	3	4	3	4	1	3	1	3	1	3	2	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:90342042G>A	ENST00000331772.4	-	2	163	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RNLS_ENST00000437752.1_Intron|RNLS_ENST00000371947.3_Silent_p.C47C|RNLS_ENST00000466945.1_5'UTR	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	47					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						TATGAGGACTGCAGGCTGTAG	0.448																																																	0													194	162	173					10																	90342042		2203	4300	6503	SO:0001819	synonymous_variant	0			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.141C>T	10.37:g.90342042G>A			Q9BS33|Q9NUP8	Silent	SNP	pfam_Amino_oxidase	p.C47	ENST00000331772.4	37	c.141	CCDS31239.1	10																																																																																			RNLS	-	NULL	ENSG00000184719		0.448	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	-	0	78	0	G	NM_018363		90342042	-1	tier1	-	no_errors	ENST00000331772	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.002	A	A	90342042	G	A	90342042	2	1	134	1	0	0	0	0	0	0	0	1	13550	1311	46	3		3	RNLS	10	90342042	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	52221030	90342042	45192705	97	34549											
PDE6C	5146	genome.wustl.edu	37	chr10	95399868	95399868	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgctcagcagaactgtacgaAttccgcttcagtgacttccc	9	10	8	14	3	2	2	2	1	0	1	4	3	4	2	2	0	3	4	2	0	3	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:95399868A>T	ENST00000371447.3	+	12	1662	c.1524A>T	c.(1522-1524)gaA>gaT	p.E508D		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	508					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)	AACTGTACGAATTCCGCTTCA	0.423																																																	0													130	114	120					10																	95399868		2203	4300	6503	SO:0001583	missense	0			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.1524A>T	10.37:g.95399868A>T	ENSP00000360502:p.Glu508Asp		A6NCR6|Q5VY29	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E508D	ENST00000371447.3	37	c.1524	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081297	0.36758	.	.	ENSG00000095464	ENST00000371447	T	0.76968	-1.06	4.99	0.803	0.18691	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.337819	0.33691	N	0.004643	T	0.68632	0.3022	L	0.54908	1.71	0.50467	D	0.999876	P	0.48911	0.917	B	0.43575	0.424	T	0.61869	-0.6974	10	0.18710	T	0.47	.	8.3443	0.32263	0.7206:0.0:0.2794:0.0	.	508	P51160	PDE6C_HUMAN	D	508	ENSP00000360502:E508D	ENSP00000360502:E508D	E	+	3	2	PDE6C	95389858	0.995000	0.38212	0.996000	0.52242	0.568000	0.35870	0.507000	0.22675	-0.016000	0.14127	0.460000	0.39030	GAA	PDE6C	-	NULL	ENSG00000095464		0.423	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1	-	0	81	0	A	NM_006204		95399868	1	tier1	-	no_errors	ENST00000371447	ensembl	human	known	74_37	missense	36.51	40	23	SNP	1.000	T	T	95399868	A	T	95399868	3	4	134	1	0	0	0	0	1	0	0	0	11686	98	4	5	1570	5	PDE6C	10	95399868	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09	5057826	95399868	40134879	98	34550											
ERLIN1	10613	genome.wustl.edu	37	chr10	101943525	101943525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcacctgcacagatctGaacgtagtaatgaaaggcaa	15	8	8	10	1	3	3	2	2	1	1	3	3	3	3	1	1	2	4	1	1	5	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:101943525G>T	ENST00000421367.2	-	2	2890	c.183C>A	c.(181-183)ttC>ttA	p.F61L	ERLIN1_ENST00000407654.3_Missense_Mutation_p.F61L	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	59					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GCACAGATCTGAACGTAGTAA	0.443																																																	0													125	109	114					10																	101943525		2203	4300	6503	SO:0001583	missense	0			AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"	611604	"chromosome 10 open reading frame 69", "SPFH domain family, member 1"	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.183C>A	10.37:g.101943525G>T	ENSP00000410964:p.Phe61Leu		B0QZ42|Q53HV0	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.F61L	ENST00000421367.2	37	c.183	CCDS7487.2	10	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388625	0.61956	.	.	ENSG00000107566	ENST00000421367;ENST00000407654;ENST00000370408	D;D;D	0.93953	-3.32;-3.32;-3.32	5.19	5.19	0.71726	.	0.364726	0.28778	U	0.014175	D	0.92760	0.7698	L	0.54323	1.7	0.53005	D	0.999966	B	0.22983	0.078	B	0.36092	0.217	D	0.89861	0.4016	10	0.35671	T	0.21	-14.9645	16.5796	0.84711	0.0:0.0:1.0:0.0	.	61	D3DR65	.	L	61	ENSP00000410964:F61L;ENSP00000384900:F61L;ENSP00000359436:F61L	ENSP00000359436:F61L	F	-	3	2	ERLIN1	101933515	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.724000	0.68500	2.598000	0.87819	0.561000	0.74099	TTC	ERLIN1	-	pfam_Band_7,smart_Band_7	ENSG00000107566		0.443	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN1	HGNC	protein_coding	OTTHUMT00000049840.2	-	0	68	0	G	NM_006459		101943525	-1	tier1	-	no_errors	ENST00000407654	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	101943525	G	T	101943525	3	4	134	1	0	0	0	0	1	0	0	0	5248	1281	45	3	903	3	ERLIN1	10	101943525	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	6543657	101943525	33591222	99	34551											
TMEM180	79847	genome.wustl.edu	37	chr10	104228949	104228949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatggccttctgggtcGgagaggtagggccagtgctg	9	8	16	8	1	1	1	0	0	1	1	2	2	1	1	2	5	1	2	2	5	3	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:104228949G>A	ENST00000238936.4	+	3	400	c.163G>A	c.(163-165)Gga>Aga	p.G55R	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.G55R|TMEM180_ENST00000450947.2_3'UTR	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	55						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTTCTGGGTCGGAGAGGTAGG	0.577																																																	0													112	107	109					10																	104228949		2203	4300	6503	SO:0001583	missense	0			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.163G>A	10.37:g.104228949G>A	ENSP00000238936:p.Gly55Arg		Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.G55R	ENST00000238936.4	37	c.163	CCDS7535.1	10	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300934	0.81136	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	D	0.87179	-2.22	5.58	4.68	0.58851	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	M	0.82517	2.595	0.80722	D	1	P;D;D	0.89917	0.696;1.0;1.0	B;D;D	0.91635	0.161;0.999;0.998	D	0.93615	0.6942	9	.	.	.	.	14.188	0.65620	0.0719:0.0:0.9281:0.0	.	55;55;55	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	R	55	ENSP00000238936:G55R	.	G	+	1	0	TMEM180	104218939	1.000000	0.71417	0.957000	0.39632	0.657000	0.38888	9.859000	0.99545	1.365000	0.46057	0.478000	0.44815	GGA	TMEM180	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000138111		0.577	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM180	HGNC	protein_coding	OTTHUMT00000050075.2	-	0	97	0	G	NM_024789		104228949	1	tier1	-	no_errors	ENST00000238936	ensembl	human	known	74_37	missense	41.51	62	44	SNP	1.000	A	A	104228949	G	A	104228949	3	1	134	1	0	0	0	0	1	0	0	0	16146	1117	39	1	165	1	TMEM180	10	104228949	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	2285424	104228949	31305798	100	34552											
TDRD1	56165	genome.wustl.edu	37	chr10	115961251	115961251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactggtctgcacacagcatCgtgtgcaggcctgttcagcc	7	9	12	13	1	2	0	1	0	1	0	3	1	2	0	2	2	4	4	2	2	0	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:115961251C>T	ENST00000369280.1	+	5	1072	c.612C>T	c.(610-612)atC>atT	p.I204I	TDRD1_ENST00000369281.2_Silent_p.I204I|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Silent_p.I204I|TDRD1_ENST00000251864.2_Silent_p.I204I			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	204					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)	p.I204I(1)		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)		CACACAGCATCGTGTGCAGGC	0.433																																																	1	Substitution - coding silent(1)	endometrium(1)											88	86	87					10																	115961251		2203	4300	6503	SO:0001819	synonymous_variant	0			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.612C>T	10.37:g.115961251C>T			A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.I204	ENST00000369280.1	37	c.612		10																																																																																			TDRD1	-	pfam_Znf_MYND,pfscan_Znf_MYND	ENSG00000095627		0.433	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2		0	31	0	C			115961251	1			no_errors	ENST00000251864	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.136	T	T	115961251	C	T	115961251	2	4	134	1	0	0	0	0	0	0	0	1	15777	874	31	1		1	TDRD1	10	115961251	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	11732302	115961251	19573496	101	34553											
EIF3A	340719	genome.wustl.edu	37	chr10	120795774	120795774	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcagcacgtctccaaGaacttactaaaaagtttaat	15	12	5	9	1	3	1	2	0	1	1	4	1	3	1	1	0	3	2	1	0	7	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:120795774G>T	ENST00000425699.1	+	0	4627				EIF3A_ENST00000541549.1_Missense_Mutation_p.S1275Y|EIF3A_ENST00000369144.3_Missense_Mutation_p.S1309Y	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)						cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		ACGTCTCCAAGAACTTACTAA	0.388																																																	0													34	36	35					10																	120795774		2203	4299	6502	SO:0001628	intergenic_variant	0			AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141		10.37:g.120795774G>T				Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.S1309Y	ENST00000425699.1	37	c.3926	CCDS7607.1	10	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600088	0.28534	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.37411	1.23;1.2	5.88	5.88	0.94601	.	0.000000	0.36628	U	0.002497	T	0.45094	0.1325	L	0.50333	1.59	0.50632	D	0.999884	D	0.56521	0.976	P	0.47744	0.556	T	0.37454	-0.9705	10	0.62326	D	0.03	-14.8421	20.2441	0.98394	0.0:0.0:1.0:0.0	.	1309	Q14152	EIF3A_HUMAN	Y	1309;1275	ENSP00000358140:S1309Y;ENSP00000438178:S1275Y	ENSP00000358140:S1309Y	S	-	2	0	EIF3A	120785764	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.664000	0.74437	2.774000	0.95407	0.655000	0.94253	TCT	EIF3A	-	NULL	ENSG00000107581		0.388	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000110794.1	-	0	84	0	G			120795774	-1	tier1	-	no_errors	ENST00000369144	ensembl	human	known	74_37	missense	17.39	57	12	SNP	1.000	T	T	120795774	G	T	120795774	1	4	134	0	1	0	0	0	0	0	0	0	5026	942	33	3		3	EIF3A	10	120795774	IGR	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	4834523	120795774	14738973	102	34554											
ZNF511	118472	genome.wustl.edu	37	chr10	135125270	135125270	+	Missense_Mutation	SNP	A	A	G	1	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	tggagagcggtcagaaggggAggccatggaaatctgctctg	10	7	17	7	1	3	2	1	0	2	2	3	5	3	4	1	6	2	1	1	6	2	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr10:135125270A>G	ENST00000359035.3	+	5	608	c.605A>G	c.(604-606)gAg>gGg	p.E202G	TUBGCP2_ENST00000368563.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000361518.5_Missense_Mutation_p.E202G|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.E137G			Q8NB15	ZN511_HUMAN	zinc finger protein 511	202					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(1)|large_intestine(1)|lung(2)|ovary(1)	8		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)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TCAGAAGGGGAGGCCATGGAA	0.622																																																	0													75	77	76					10																	135125270		2203	4300	6503	SO:0001583	missense	0			AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"Zinc fingers, C2H2-type"	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.605A>G	10.37:g.135125270A>G	ENSP00000351929:p.Glu202Gly		A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.E137G	ENST00000359035.3	37	c.410		10	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589485	0.46214	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	D;D;D	0.88896	-2.44;-2.44;-2.44	4.23	4.23	0.50019	.	0.295540	0.31495	N	0.007545	T	0.81245	0.4782	L	0.34521	1.04	0.09310	N	0.999999	B;P	0.42692	0.372;0.787	B;B	0.36666	0.114;0.23	T	0.74746	-0.3561	10	0.42905	T	0.14	-5.6786	11.3974	0.49849	1.0:0.0:0.0:0.0	.	202;202	Q8NB15;Q8NB15-2	ZN511_HUMAN;.	G	202;202;137	ENSP00000355251:E202G;ENSP00000351929:E202G;ENSP00000357542:E137G	ENSP00000351929:E202G	E	+	2	0	ZNF511	134975260	0.982000	0.34865	0.099000	0.21106	0.405000	0.30901	3.793000	0.55484	1.866000	0.54105	0.533000	0.62120	GAG	ZNF511	-	NULL	ENSG00000198546		0.622	ZNF511-002	KNOWN	basic	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051143.1	-	0	28	0	A	NM_145806		135125270	1	tier1	-	no_errors	ENST00000368554	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.282	G	G	135125270	A	G	135125270	3	3	134	1	0	0	0	0	1	0	0	0	18003	304	11	4	623	4	ZNF511	10	135125270	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09	14329496	135125270	409477	103	34555											
OR51M1	390059	genome.wustl.edu	37	chr11	5411427	5411427	+	Missense_Mutation	SNP	A	A	T	1	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	tgctagtattctttgtgcccAtgatggggctgtccctggtg	4	15	13	9	0	1	1	0	1	1	0	2	1	2	1	2	3	2	3	2	3	2	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:5411427A>T	ENST00000328611.3	+	1	821	c.799A>T	c.(799-801)Atg>Ttg	p.M267L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	267					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)		CTTTGTGCCCATGATGGGGCT	0.552																																																	0													88	81	83					11																	5411427		2060	4195	6255	SO:0001583	missense	0			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.799A>T	11.37:g.5411427A>T	ENSP00000333196:p.Met267Leu		Q6IF80	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M267L	ENST00000328611.3	37	c.799	CCDS53596.1	11	.	.	.	.	.	.	.	.	.	.	A	8.802	0.933043	0.18131	.	.	ENSG00000184698	ENST00000328611	T	0.34072	1.38	5.24	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.183413	0.26324	U	0.025038	T	0.14787	0.0357	N	0.11255	0.115	0.19945	N	0.999945	B	0.13594	0.008	B	0.22880	0.042	T	0.15752	-1.0426	10	0.18276	T	0.48	.	1.0622	0.01603	0.5233:0.1568:0.169:0.151	.	256	Q9H341	O51M1_HUMAN	L	267	ENSP00000333196:M267L	ENSP00000333196:M267L	M	+	1	0	OR51M1	5368003	0.000000	0.05858	0.883000	0.34634	0.921000	0.55340	-0.819000	0.04462	0.466000	0.27193	0.533000	0.62120	ATG	OR51M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184698		0.552	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51M1	HGNC	protein_coding	OTTHUMT00000142981.1	-	0	61	0	A	NM_001004756		5411427	1	tier1	-	no_errors	ENST00000328611	ensembl	human	known	74_37	missense	11.54	46	6	SNP	0.180	T	T	5411427	A	T	5411427	3	4	134	1	0	0	0	0	1	0	0	0	11142	217	8	5	801	5	OR51M1	11	5411427	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09		5411427	129595089	104	34556											
OR2D2	120776	genome.wustl.edu	37	chr11	6913349	6913349	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttagggtaacgcagaggaTtgcagattgcaacatagcga	13	9	13	6	2	0	2	0	0	0	2	0	4	0	3	0	2	5	5	0	2	4	5	rs202241668	byFrequency	TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:6913349T>A	ENST00000299459.2	-	1	481	c.383A>T	c.(382-384)aAt>aTt	p.N128I		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	128					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACGCAGAGGATTGCAGATTGC	0.502																																																	0													141	110	120					11																	6913349		2201	4296	6497	SO:0001583	missense	0			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.383A>T	11.37:g.6913349T>A	ENSP00000299459:p.Asn128Ile		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.N128I	ENST00000299459.2	37	c.383	CCDS31416.1	11	.	.	.	.	.	.	.	.	.	.	t	10.43	1.347690	0.24426	.	.	ENSG00000166368	ENST00000299459	T	0.00397	7.57	5.23	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.371511	0.23132	N	0.051562	T	0.00328	0.0010	L	0.56396	1.775	0.09310	N	1	B	0.32010	0.351	B	0.30029	0.11	T	0.42816	-0.9429	10	0.72032	D	0.01	-3.366	7.9903	0.30237	0.0:0.1836:0.0:0.8164	.	128	Q9H210	OR2D2_HUMAN	I	128	ENSP00000299459:N128I	ENSP00000299459:N128I	N	-	2	0	OR2D2	6869925	0.021000	0.18746	0.156000	0.22583	0.809000	0.45718	1.576000	0.36504	0.486000	0.27676	-0.424000	0.05967	AAT	OR2D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000166368		0.502	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D2	HGNC	protein_coding	OTTHUMT00000385986.1	-	0	46	0	T	NM_003700		6913349	-1	tier1	-	no_errors	ENST00000299459	ensembl	human	known	74_37	missense	54.55	15	18	SNP	0.007	A	A	6913349	T	A	6913349	3	1	134	1	0	0	0	0	1	0	0	0	11033	1493	52	5	546	5	OR2D2	11	6913349	Missense_Mutation	SNP	T	TCGA-LN-A9FQ-01A-31D-A387-09	1501922	6913349	128093167	105	34557											
ST5	6764	genome.wustl.edu	37	chr11	8732410	8732410	+	Silent	SNP	G	G	A	0	0	1	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	accagtaagcgcctgcagtaGccaaagcgtctgctgccatc	10	7	10	14	2	1	0	0	0	1	0	2	0	1	0	4	0	6	4	4	0	3	2	rs543462116		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:8732410G>A	ENST00000534127.1	-	14	2719	c.2334C>T	c.(2332-2334)ggC>ggT	p.G778G	ST5_ENST00000530991.1_Silent_p.G250G|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Silent_p.G358G|ST5_ENST00000526757.1_Silent_p.G358G|ST5_ENST00000534278.1_5'Flank|ST5_ENST00000357665.1_Silent_p.G778G|ST5_ENST00000526099.1_Silent_p.G291G|ST5_ENST00000313726.6_Silent_p.G778G	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	778	UDENN.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCCTGCAGTAGCCAAAGCGTC	0.562													G|||	1	0.000199681	0	0	5008	,	,		17537	0		0	False		,,,				2504	0.001																0													59	55	56					11																	8732410		2201	4296	6497	SO:0001819	synonymous_variant	0			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2334C>T	11.37:g.8732410G>A			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G778	ENST00000534127.1	37	c.2334	CCDS7791.1	11																																																																																			ST5	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000166444		0.562	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	-	0	66	0	G	NM_005418		8732410	-1	tier1	-	no_errors	ENST00000313726	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.999	A	A	8732410	G	A	8732410	2	1	134	1	0	0	0	0	0	0	0	1	15267	958	34	3		3	ST5	11	8732410	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	1819061	8732410	126274106	106	34558											
NAV2	89797	genome.wustl.edu	37	chr11	19961215	19961215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ttgtgtgtgaaggtctcagaCggacactgaagggaatgtta	11	11	14	5	1	1	3	1	2	1	1	2	5	1	5	0	3	0	1	0	3	4	2	rs374224699		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:19961215C>T	ENST00000396087.3	+	9	2210	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M	NAV2_ENST00000540292.1_Missense_Mutation_p.T635M|NAV2_ENST00000360655.4_Missense_Mutation_p.T617M|NAV2_ENST00000396085.1_Missense_Mutation_p.T681M|NAV2_ENST00000527559.2_Missense_Mutation_p.T633M|NAV2_ENST00000349880.4_Missense_Mutation_p.T681M	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	704					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						AGGTCTCAGACGGACACTGAA	0.542													C|||	1	0.000199681	0	0.0014	5008	,	,		18373	0		0	False		,,,				2504	0																0								C	MET/THR,MET/THR,MET/THR	0,4398		0,0,2199	153	123	133		1850,2042,2042	5.7	1	11		133	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,missense	NAV2	NM_001111018.1,NM_145117.4,NM_182964.5	81,81,81	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	617/2366,681/2430,681/2433	19961215	1,12983	2199	4293	6492	SO:0001583	missense	0			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.2111C>T	11.37:g.19961215C>T	ENSP00000379396:p.Thr704Met		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.T704M	ENST00000396087.3	37	c.2111	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758808	0.69763	0.0	1.16E-4	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	5.71	5.71	0.89125	.	0.086459	0.49916	D	0.000121	T	0.29028	0.0721	L	0.39898	1.24	0.80722	D	1	D;D	0.57571	0.965;0.98	P;P	0.54965	0.765;0.614	T	0.00219	-1.1907	9	.	.	.	.	19.8706	0.96849	0.0:1.0:0.0:0.0	.	681;617	Q8IVL1-3;Q8IVL1-4	.;.	M	617;681;681;704;633;635	ENSP00000353871:T617M;ENSP00000379394:T681M;ENSP00000309577:T681M;ENSP00000379396:T704M;ENSP00000435395:T633M;ENSP00000443489:T635M	.	T	+	2	0	NAV2	19917791	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	4.408000	0.59761	2.691000	0.91804	0.563000	0.77884	ACG	NAV2	-	NULL	ENSG00000166833		0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1		0	43	0	C	NM_145117		19961215	1			no_errors	ENST00000396087	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	19961215	C	T	19961215	3	4	134	1	0	0	0	0	1	0	0	0	10222	536	19	1	2151	1	NAV2	11	19961215	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	11228805	19961215	115045301	107	34559											
DCDC1	341019	genome.wustl.edu	37	chr11	31349672	31349672	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatgttcttaccttggtaaAtcattcaaaatatatttgta	14	18	4	5	0	3	0	2	0	1	0	3	0	3	0	1	1	1	3	1	1	9	10			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:31349672A>G	ENST00000452803.1	-	3	357	c.156T>C	c.(154-156)gaT>gaC	p.D52D	DCDC1_ENST00000597505.1_Silent_p.D52D	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	52					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACCTTGGTAAATCATTCAAAA	0.348																																																	0													57	57	57					11																	31349672		2202	4299	6501	SO:0001819	synonymous_variant	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.156T>C	11.37:g.31349672A>G			A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	pfscan_Doublecortin_dom	p.D52	ENST00000452803.1	37	c.156	CCDS7872.1	11																																																																																			DCDC1	-	NULL	ENSG00000170959		0.348	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000316531.1	-	0	58	0	A	NM_181807		31349672	-1	tier1	-	no_errors	ENST00000452803	ensembl	human	known	74_37	silent	20.93	33	9	SNP	0.064	G	G	31349672	A	G	31349672	2	3	134	1	0	0	0	0	0	0	0	1	4293	98	4	4		4	DCDC1	11	31349672	Silent	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09	11388457	31349672	103656844	108	34560											
AMBRA1	55626	genome.wustl.edu	37	chr11	46419421	46419421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcaccacggctgtcatgCcgccctccgccatcagcctc	5	7	9	20	3	2	0	2	0	0	0	4	0	3	0	6	1	3	3	6	1	0	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:46419421C>T	ENST00000458649.2	-	18	3894	c.3476G>A	c.(3475-3477)gGc>gAc	p.G1159D	AMBRA1_ENST00000533727.1_Missense_Mutation_p.G1040D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.G1130D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G1099D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.G1099D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.G1069D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.G1130D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1159					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)		GGCTGTCATGCCGCCCTCCGC	0.607																																																	0													57	45	49					11																	46419421		2202	4299	6501	SO:0001583	missense	0			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.3476G>A	11.37:g.46419421C>T	ENSP00000415327:p.Gly1159Asp		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1159D	ENST00000458649.2	37	c.3476		11	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859908	0.91433	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	D;D;D;D;D;D;D	0.85258	-1.91;-1.96;-1.67;-1.79;-1.67;-1.78;-1.79	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.89090	0.6616	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.999;0.999;0.999;1.0;0.999	D	0.90213	0.4266	10	0.87932	D	0	.	18.8445	0.92200	0.0:1.0:0.0:0.0	.	1159;1130;1099;1040;1162;1069	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	D	1069;1040;1099;1130;1099;1159;117;1130	ENSP00000318313:G1069D;ENSP00000433372:G1040D;ENSP00000431926:G1099D;ENSP00000410899:G1130D;ENSP00000298834:G1099D;ENSP00000415327:G1159D;ENSP00000433945:G1130D	ENSP00000298834:G1099D	G	-	2	0	AMBRA1	46375997	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.264000	0.78432	2.679000	0.91253	0.655000	0.94253	GGC	AMBRA1	-	NULL	ENSG00000110497		0.607	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1		0	45	0	C	NM_017749		46419421	-1			no_errors	ENST00000458649	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T	T	46419421	C	T	46419421	3	4	134	1	0	0	0	0	1	0	0	0	565	739	26	3	424	3	AMBRA1	11	46419421	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	15069749	46419421	88587095	109	34561											
MADD	8567	genome.wustl.edu	37	chr11	47298299	47298299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtggtgctacagtcccGagactacaatgcactctcca	11	8	9	13	1	1	1	0	0	1	1	3	2	2	1	2	2	4	2	2	2	3	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:47298299G>T	ENST00000311027.5	+	5	1145	c.980G>T	c.(979-981)cGa>cTa	p.R327L	MADD_ENST00000395344.3_Missense_Mutation_p.R327L|MADD_ENST00000402799.1_Missense_Mutation_p.R327L|MADD_ENST00000406482.1_Missense_Mutation_p.R327L|MADD_ENST00000342922.4_Missense_Mutation_p.R327L|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402192.2_Missense_Mutation_p.R327L|MADD_ENST00000407859.3_Missense_Mutation_p.R327L|MADD_ENST00000395336.3_Missense_Mutation_p.R327L|MADD_ENST00000349238.3_Missense_Mutation_p.R327L	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)		CTACAGTCCCGAGACTACAAT	0.453																																																	0													258	204	222					11																	47298299		2201	4298	6499	SO:0001583	missense	0			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.980G>T	11.37:g.47298299G>T	ENSP00000310933:p.Arg327Leu			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R327L	ENST00000311027.5	37	c.980	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021982	0.75275	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79	5.93	5.93	0.95920	DENN (3);	0.064498	0.64402	D	0.000007	T	0.28599	0.0708	L	0.42245	1.32	0.80722	D	1	D;D;D;B;B;B;B;D;D;D	0.89917	1.0;0.992;1.0;0.421;0.264;0.421;0.421;0.999;0.987;0.962	D;D;D;B;B;B;B;D;D;P	0.91635	0.999;0.96;0.999;0.425;0.425;0.329;0.329;0.997;0.934;0.829	T	0.00075	-1.2121	10	0.38643	T	0.18	-1.8269	20.3539	0.98825	0.0:0.0:1.0:0.0	.	327;327;327;327;327;327;327;327;327;327	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	327;327;105;327;327;327;327;327;327;327;327	ENSP00000343902:R327L;ENSP00000398167:R105L;ENSP00000385585:R327L;ENSP00000384435:R327L;ENSP00000304505:R327L;ENSP00000310933:R327L;ENSP00000384204:R327L;ENSP00000378753:R327L;ENSP00000378745:R327L;ENSP00000384287:R327L	ENSP00000310933:R327L	R	+	2	0	MADD	47254875	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CGA	MADD	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000110514		0.453	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1		0	52	0	G			47298299	1			no_errors	ENST00000311027	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	47298299	G	T	47298299	3	4	134	1	0	0	0	0	1	0	0	0	9188	1058	37	2	994	2	MADD	11	47298299	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	878878	47298299	87708217	110	34562											
OR5M3	219482	genome.wustl.edu	37	chr11	56237898	56237898	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccacaagaaagatgatgaAgaagagaacttgccattctc	17	7	9	8	0	1	6	0	2	1	4	2	8	1	6	2	0	2	0	2	0	5	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:56237898A>G	ENST00000312240.2	-	1	116	c.76T>C	c.(76-78)Ttc>Ctc	p.F26L		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	26						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)					AAGATGATGAAGAAGAGAACT	0.428																																																	0													96	84	88					11																	56237898		2201	4295	6496	SO:0001583	missense	0			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.76T>C	11.37:g.56237898A>G	ENSP00000312208:p.Phe26Leu		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F26L	ENST00000312240.2	37	c.76	CCDS31532.1	11	.	.	.	.	.	.	.	.	.	.	A	14.71	2.615285	0.46631	.	.	ENSG00000174937	ENST00000312240	T	0.04454	3.62	5.11	3.97	0.46021	.	0.000000	0.43579	D	0.000556	T	0.11410	0.0278	M	0.77406	2.37	0.21064	N	0.999793	P	0.50943	0.94	P	0.48304	0.573	T	0.07770	-1.0755	10	0.62326	D	0.03	-17.0269	9.8157	0.40851	0.9172:0.0:0.0828:0.0	.	26	Q8NGP4	OR5M3_HUMAN	L	26	ENSP00000312208:F26L	ENSP00000312208:F26L	F	-	1	0	OR5M3	55994474	0.928000	0.31464	0.056000	0.19401	0.088000	0.18126	3.804000	0.55568	0.779000	0.33543	0.391000	0.25812	TTC	OR5M3	-	prints_GPCR_Rhodpsn	ENSG00000174937		0.428	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	HGNC	protein_coding	OTTHUMT00000391639.1	-	0	81	0	A	NM_001004742		56237898	-1	tier1	-	no_errors	ENST00000312240	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.435	G	G	56237898	A	G	56237898	3	3	134	1	0	0	0	0	1	0	0	0	11214	72	3	4	849	4	OR5M3	11	56237898	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09	8939599	56237898	78768618	111	34563											
MS4A1	931	genome.wustl.edu	37	chr11	60229937	60229937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatctggtccaaaaccactCttcaggaggatgtcttcact	11	11	7	12	0	5	0	2	0	3	0	6	2	6	2	2	3	1	0	2	3	3	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:60229937C>T	ENST00000534668.1	+	2	379	c.90C>T	c.(88-90)ctC>ctT	p.L30L	MS4A1_ENST00000345732.4_Silent_p.L30L|MS4A1_ENST00000528313.1_Silent_p.L30L|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000532073.1_Silent_p.L30L|MS4A1_ENST00000389939.2_Silent_p.L30L	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	30					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	CAAAACCACTCTTCAGGAGGA	0.483																																																	0													77	79	79					11																	60229937		2203	4300	6503	SO:0001819	synonymous_variant	0			M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"CD molecules"	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.90C>T	11.37:g.60229937C>T			A6NMS4|B4DT24|P08984|Q13963	Silent	SNP	pfam_CD20-like	p.L30	ENST00000534668.1	37	c.90	CCDS31570.1	11																																																																																			MS4A1	-	NULL	ENSG00000156738		0.483	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A1	HGNC	protein_coding	OTTHUMT00000395402.1	-	0	38	0	C			60229937	1	tier1	-	no_errors	ENST00000345732	ensembl	human	known	74_37	silent	13.33	52	8	SNP	0.000	T	T	60229937	C	T	60229937	2	4	134	1	0	0	0	0	0	0	0	1	9892	900	32	3		3	MS4A1	11	60229937	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	3992039	60229937	74776579	112	34564											
DPF2	5977	genome.wustl.edu	37	chr11	65111529	65111529	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggaccgggataagccctAtgcctgtgacagtgagtgcc	9	7	15	10	1	0	2	0	2	0	0	0	5	0	5	4	3	3	0	4	3	2	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:65111529A>G	ENST00000528416.1	+	6	759	c.626A>G	c.(625-627)tAt>tGt	p.Y209C	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Missense_Mutation_p.Y209C|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	209					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						GATAAGCCCTATGCCTGTGAC	0.552																																																	0													73	67	69					11																	65111529		2201	4297	6498	SO:0001583	missense	0			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.626A>G	11.37:g.65111529A>G	ENSP00000436901:p.Tyr209Cys		A8K7C9|B4DT58	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2	p.Y209C	ENST00000528416.1	37	c.626	CCDS8100.1	11	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193459	0.78902	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.93659	-3.26;-2.77	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34314	N	0.004064	D	0.96629	0.8900	M	0.83223	2.63	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	D	0.97064	0.9773	10	0.72032	D	0.01	-17.5785	14.1058	0.65088	1.0:0.0:0.0:0.0	.	209	Q92785	REQU_HUMAN	C	209	ENSP00000436901:Y209C;ENSP00000252268:Y209C	ENSP00000252268:Y209C	Y	+	2	0	DPF2	64868105	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	7.287000	0.78681	2.213000	0.71641	0.528000	0.53228	TAT	DPF2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000133884		0.552	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPF2	HGNC	protein_coding	OTTHUMT00000387293.3	-	0	43	0	A	NM_006268		65111529	1	tier1	-	no_errors	ENST00000528416	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	G	G	65111529	A	G	65111529	3	3	134	1	0	0	0	0	1	0	0	0	4731	449	16	4	648	4	DPF2	11	65111529	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09	4881592	65111529	69894987	113	34565											
SLC25A45	283130	genome.wustl.edu	37	chr11	65144438	65144438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	cccggaagatggaggctgcaCagtgcacgggcccctggtac	8	5	15	13	2	0	1	0	0	0	1	0	3	0	3	3	5	3	4	3	5	2	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:65144438C>T	ENST00000527174.1	-	5	504	c.449G>A	c.(448-450)tGt>tAt	p.C150Y	SLC25A45_ENST00000526432.1_Missense_Mutation_p.C88Y|SLC25A45_ENST00000377152.2_Missense_Mutation_p.C46Y|SLC25A45_ENST00000398802.1_Missense_Mutation_p.C150Y|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000534028.1_Missense_Mutation_p.C126Y|SLC25A45_ENST00000417511.2_Missense_Mutation_p.C108Y|SLC25A45_ENST00000360662.3_Missense_Mutation_p.C126Y|SLC25A45_ENST00000294187.6_Missense_Mutation_p.C108Y			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	150					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						GGAGGCTGCACAGTGCACGGG	0.667																																																	0													28	32	31					11																	65144438		1850	4091	5941	SO:0001583	missense	0			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.449G>A	11.37:g.65144438C>T	ENSP00000435489:p.Cys150Tyr		Q6PL49|Q8IW29	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.C150Y	ENST00000527174.1	37	c.449	CCDS41670.1	11	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601473	0.87055	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.23	5.23	0.72850	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	M	0.93678	3.445	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	0.93982	0.7259	10	0.87932	D	0	-6.8906	16.6687	0.85260	0.0:1.0:0.0:0.0	.	88;126;150	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	Y	150;126;150;126;46;108;108;88	ENSP00000435489:C150Y;ENSP00000431769:C126Y;ENSP00000381782:C150Y;ENSP00000353879:C126Y;ENSP00000366357:C46Y;ENSP00000294187:C108Y;ENSP00000407530:C108Y;ENSP00000435547:C88Y	ENSP00000294187:C108Y	C	-	2	0	SLC25A45	64901014	1.000000	0.71417	0.984000	0.44739	0.801000	0.45260	6.837000	0.75354	2.617000	0.88574	0.561000	0.74099	TGT	SLC25A45	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000162241		0.667	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A45	HGNC	protein_coding	OTTHUMT00000388744.3	-	0	63	0	C	NM_182556		65144438	-1	tier1	-	no_errors	ENST00000398802	ensembl	human	known	74_37	missense	47.17	28	25	SNP	1.000	T	T	65144438	C	T	65144438	3	4	134	1	0	0	0	0	1	0	0	0	14555	478	17	3	425	3	SLC25A45	11	65144438	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	32909	65144438	69862078	114	34566											
SPTBN2	6712	genome.wustl.edu	37	chr11	66467041	66467041	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggcagcatcagcagcctgGagtgtccctggcatctccgt	7	9	12	13	1	2	0	1	0	1	0	4	1	3	1	3	3	3	4	3	3	0	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:66467041G>T	ENST00000533211.1	-	18	3943	c.3612C>A	c.(3610-3612)ctC>ctA	p.L1204L	SPTBN2_ENST00000309996.2_Silent_p.L1204L|SPTBN2_ENST00000529997.1_Silent_p.L1204L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1204					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.L1204L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CAGCAGCCTGGAGTGTCCCTG	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											100	94	96					11																	66467041		2200	4295	6495	SO:0001819	synonymous_variant	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3612C>A	11.37:g.66467041G>T			O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L1204	ENST00000533211.1	37	c.3612	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.567	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2		0	45	0	G	NM_006946		66467041	-1			no_errors	ENST00000309996	ensembl	human	known	74_37	silent	6.98	40	3	SNP	0.623	T	T	66467041	G	T	66467041	2	4	134	1	0	0	0	0	0	0	0	1	15167	1161	41	3		3	SPTBN2	11	66467041	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	1322603	66467041	68539475	115	34567											
TPCN2	219931	genome.wustl.edu	37	chr11	68825136	68825136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctggtggactggaccGtgtccctgagtctcgtgtgt	3	14	14	10	2	2	1	0	1	2	0	5	3	3	3	2	3	0	0	2	3	0	0	rs150917419		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:68825136G>A	ENST00000294309.3	+	5	621	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.V174M	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	174					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGACTGGACCGTGTCCCTGAG	0.597																																																	0								G	MET/VAL	1,4399	2.1+/-5.4	0,1,2199	238	166	190		520	3.5	1	11	dbSNP_134	190	0,8588		0,0,4294	no	missense	TPCN2	NM_139075.3	21	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	174/753	68825136	1,12987	2200	4294	6494	SO:0001583	missense	0			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.520G>A	11.37:g.68825136G>A	ENSP00000294309:p.Val174Met		Q9NT82	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.V174M	ENST00000294309.3	37	c.520	CCDS8189.1	11	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063782	0.55432	2.27E-4	0.0	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.98550	-4.99;-4.99	4.46	3.49	0.39957	Ion transport (1);	0.079085	0.50627	D	0.000105	D	0.98642	0.9545	M	0.79123	2.44	0.46954	D	0.999264	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.76575	0.988;0.979;0.941	D	0.98979	1.0804	10	0.87932	D	0	-31.8975	13.2545	0.60070	0.0:0.1603:0.8397:0.0	.	174;174;89	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	M	104;174;89;174	ENSP00000294309:V174M;ENSP00000445551:V174M	ENSP00000294309:V174M	V	+	1	0	TPCN2	68581712	0.981000	0.34729	0.958000	0.39756	0.804000	0.45430	1.811000	0.38942	2.037000	0.60232	0.462000	0.41574	GTG	TPCN2	-	pfam_Ion_trans_dom	ENSG00000162341		0.597	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN2	HGNC	protein_coding	OTTHUMT00000396878.2	-	0	78	0	G	NM_139075		68825136	1	tier1	rs150917419	no_errors	ENST00000294309	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.932	A	A	68825136	G	A	68825136	3	1	134	1	0	0	0	0	1	0	0	0	16444	1145	40	1	538	1	TPCN2	11	68825136	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	2358095	68825136	66181380	116	34568											
ANO1	55107	genome.wustl.edu	37	chr11	69957845	69957845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggccaatggtgtgtacGcggctgcatacccactgcac	7	9	12	13	2	0	0	0	0	0	0	0	0	0	0	2	3	5	5	2	3	3	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:69957845G>T	ENST00000355303.5	+	7	1137	c.832G>T	c.(832-834)Gcg>Tcg	p.A278S	ANO1_ENST00000531349.1_Missense_Mutation_p.A13S|ANO1_ENST00000538023.1_Missense_Mutation_p.A278S|ANO1_ENST00000530676.1_Missense_Mutation_p.A162S|ANO1_ENST00000398543.2_Missense_Mutation_p.A162S|ANO1_ENST00000316296.5_Missense_Mutation_p.A250S	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	278					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.A278P(2)|p.A278T(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TGGTGTGTACGCGGCTGCATA	0.562																																																	4	Substitution - Missense(4)	lung(2)|endometrium(2)											157	165	162					11																	69957845		2023	4186	6209	SO:0001583	missense	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.832G>T	11.37:g.69957845G>T	ENSP00000347454:p.Ala278Ser		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.A278S	ENST00000355303.5	37	c.832	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	G	2.207	-0.381634	0.04966	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000531604;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.08	5.26	1.32	0.21799	.	0.525055	0.18489	N	0.139684	T	0.24122	0.0584	N	0.01109	-1.01	0.23823	N	0.996749	B;B;B	0.14438	0.0;0.01;0.0	B;B;B	0.15484	0.0;0.013;0.001	T	0.21314	-1.0249	9	.	.	.	.	4.2864	0.10857	0.3477:0.0:0.2556:0.3967	.	13;250;278	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	S	278;278;162;62;245;250;162;13	ENSP00000347454:A278S;ENSP00000444689:A278S;ENSP00000381551:A162S;ENSP00000436392:A245S;ENSP00000319477:A250S;ENSP00000435797:A162S;ENSP00000432843:A13S	.	A	+	1	0	ANO1	69635493	1.000000	0.71417	0.994000	0.49952	0.394000	0.30568	3.206000	0.51098	0.305000	0.22832	-0.521000	0.04368	GCG	ANO1	-	NULL	ENSG00000131620		0.562	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1		0	47	0	G	NM_018043		69957845	1			no_errors	ENST00000355303	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.957	T	T	69957845	G	T	69957845	3	4	134	1	0	0	0	0	1	0	0	0	695	1087	38	2	858	2	ANO1	11	69957845	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	1132709	69957845	65048671	117	34569											
MAML2	84441	genome.wustl.edu	37	chr11	95825371	95825371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttgctgctgctgctgCtgttgctgctgctgctgctg	0	16	14	11	0	0	0	0	0	0	0	0	0	0	0	0	0	11	13	0	0	0	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:95825371C>T	ENST00000524717.1	-	2	3108	c.1824G>A	c.(1822-1824)caG>caA	p.Q608Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	608					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)				gctgctgctgctgttgctgct	0.542			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													30	37	34					11																	95825371		2016	3986	6002	SO:0001819	synonymous_variant	0			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.1824G>A	11.37:g.95825371C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q608	ENST00000524717.1	37	c.1824	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.542	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1		0	48	0	C			95825371	-1			no_errors	ENST00000524717	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.002	T	T	95825371	C	T	95825371	2	4	134	1	0	0	0	0	0	0	0	1	9244	796	28	3		3	MAML2	11	95825371	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	25867526	95825371	39181145	118	34570											
MMP1	4312	genome.wustl.edu	37	chr11	102667452	102667452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcatcccctccaatacCtgggcctggttgaaaagcat	11	9	9	12	0	0	2	0	2	0	0	2	2	2	2	5	2	3	3	5	2	4	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:102667452C>A	ENST00000315274.6	-	4	635	c.568G>T	c.(568-570)Ggt>Tgt	p.G190C	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	190	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)	CCTCCAATACCTGGGCCTGGT	0.438																																																	0													124	109	114					11																	102667452		2203	4299	6502	SO:0001583	missense	0			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.568G>T	11.37:g.102667452C>A	ENSP00000322788:p.Gly190Cys		P08156	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.G190C	ENST00000315274.6	37	c.568	CCDS8322.1	11	.	.	.	.	.	.	.	.	.	.	c	15.12	2.739089	0.49045	.	.	ENSG00000196611	ENST00000315274	T	0.21361	2.01	5.87	-8.14	0.01069	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.168050	0.06122	N	0.669062	T	0.53626	0.1808	H	0.96430	3.82	0.23043	N	0.998388	D	0.89917	1.0	D	0.85130	0.997	T	0.63278	-0.6673	10	0.87932	D	0	.	10.5822	0.45263	0.0:0.2158:0.5092:0.275	.	190	P03956	MMP1_HUMAN	C	190	ENSP00000322788:G190C	ENSP00000322788:G190C	G	-	1	0	MMP1	102172662	0.000000	0.05858	0.000000	0.03702	0.337000	0.28794	-0.449000	0.06812	-1.402000	0.02056	-0.136000	0.14681	GGT	MMP1	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans	ENSG00000196611		0.438	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	-	0	110	0	C	NM_002421		102667452	-1	tier1	-	no_errors	ENST00000315274	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.000	A	A	102667452	C	A	102667452	3	1	134	1	0	0	0	0	1	0	0	0	9686	681	24	3	869	3	MMP1	11	102667452	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	6842081	102667452	32339064	119	34571											
ATM	472	genome.wustl.edu	37	chr11	108137898	108137898	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgtttctcttccttgaagGcatccttcatcaaaaagcca	10	15	5	11	0	3	1	2	1	1	0	6	1	5	1	3	1	1	2	3	1	3	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:108137898G>A	ENST00000452508.2	+	18	2656	c.2467G>A	c.(2467-2469)Gca>Aca	p.A823T	ATM_ENST00000278616.4_Splice_Site_p.A823T|AP001925.1_ENST00000596081.1_5'Flank			Q13315	ATM_HUMAN	ATM serine/threonine kinase	823					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)	TTCCTTGAAGGCATCCTTCAT	0.428			"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													97	84	88					11																	108137898		2201	4298	6499	SO:0001630	splice_region_variant	0	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.2467-1G>A	11.37:g.108137898G>A			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A823T	ENST00000452508.2	37	c.2467	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296853	0.23650	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.74632	-0.86;-0.86;-0.86	5.32	3.38	0.38709	Armadillo-type fold (1);	0.397008	0.26331	N	0.024998	T	0.65595	0.2706	M	0.63428	1.95	0.23095	N	0.998309	B	0.20887	0.049	B	0.18561	0.022	T	0.53865	-0.8378	9	.	.	.	.	5.0348	0.14428	0.118:0.0:0.5311:0.3509	.	823	Q13315	ATM_HUMAN	T	823	ENSP00000435747:A823T;ENSP00000278616:A823T;ENSP00000388058:A823T	.	A	+	1	0	ATM	107643108	0.979000	0.34478	0.524000	0.27887	0.121000	0.20230	1.124000	0.31320	0.556000	0.29098	0.655000	0.94253	GCA	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.428	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1		0	47	0	G	NM_000051	Missense_Mutation	108137898	1			no_errors	ENST00000278616	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.877	A	A	108137898	G	A	108137898	5	1	134	1	0	0	0	0	0	0	1	0	1110	1217	42	3	2529	3	ATM	11	108137898	Splice_Site	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	5470446	108137898	26868618	120	34572											
DDX10	1662	genome.wustl.edu	37	chr11	108712068	108712068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtggccacaaatgcaGaaatctgccatcaaggatgc	14	6	10	11	0	2	1	1	0	1	1	2	2	2	2	2	2	4	2	2	2	3	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:108712068G>T	ENST00000322536.3	+	15	2241	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H	DDX10_ENST00000526794.1_Missense_Mutation_p.Q704H	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	704					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)	p.Q704H(1)		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)		CACAAATGCAGAAATCTGCCA	0.418			T	NUP98	AML*																																			Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	1	Substitution - Missense(1)	lung(1)											80	76	77					11																	108712068		2201	4298	6499	SO:0001583	missense	0			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.2112G>T	11.37:g.108712068G>T	ENSP00000314348:p.Gln704His		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q704H	ENST00000322536.3	37	c.2112	CCDS8342.1	11	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006128	0.54361	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.45276	0.9;0.92	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.59702	0.2213	L	0.61218	1.895	0.48571	D	0.999675	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.936	T	0.61436	-0.7063	10	0.66056	D	0.02	-12.9617	11.5624	0.50785	0.0856:0.0:0.9144:0.0	.	704;704	Q13206;E9PIF2	DDX10_HUMAN;.	H	704;610;704	ENSP00000314348:Q704H;ENSP00000432032:Q704H	ENSP00000314348:Q704H	Q	+	3	2	DDX10	108217278	1.000000	0.71417	0.999000	0.59377	0.588000	0.36517	1.435000	0.34969	2.536000	0.85505	0.650000	0.86243	CAG	DDX10	-	NULL	ENSG00000178105		0.418	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX10	HGNC	protein_coding	OTTHUMT00000390343.1		0	57	0	G	NM_004398		108712068	1			no_errors	ENST00000322536	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	108712068	G	T	108712068	3	4	134	1	0	0	0	0	1	0	0	0	4351	933	33	3	2170	3	DDX10	11	108712068	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	574170	108712068	26294448	121	34573											
ROBO3	64221	genome.wustl.edu	37	chr11	124739843	124739843	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttaccattattgctctgcaGatccgtggagggaagctgat	9	12	12	8	1	1	2	0	1	1	1	2	4	2	4	2	2	4	4	2	2	3	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:124739843G>C	ENST00000397801.1	+	4	837		c.e4-1		ROBO3_ENST00000538940.1_Splice_Site	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)						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)		TTGCTCTGCAGATCCGTGGAG	0.428																																																	0													50	52	52					11																	124739843		2022	4196	6218	SO:0001630	splice_region_variant	0			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.646-1G>C	11.37:g.124739843G>C				Splice_Site	SNP	-	e4-1	ENST00000397801.1	37	c.646-1	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770334	0.69992	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9552	0.89067	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ROBO3	124245053	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.692000	0.98682	2.421000	0.82119	0.462000	0.41574	.	ROBO3	-	-	ENSG00000154134		0.428	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	-	0	35	0	G	XM_370663	Intron	124739843	1	tier1	-	no_errors	ENST00000397801	ensembl	human	known	74_37	splice_site	27.50	29	11	SNP	1.000	C	C	124739843	G	C	124739843	5	2	134	1	0	0	0	0	0	0	1	0	13560	956	33	5	659	5	ROBO3	11	124739843	Splice_Site	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	16027775	124739843	10266673	122	34574											
VPS26B	112936	genome.wustl.edu	37	chr11	134114931	134114931	+	Missense_Mutation	SNP	T	T	A	0	1	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	tgtgcgctattacctcaaccTggtgctgatagacgaggagg	9	10	13	9	2	1	2	1	1	0	1	1	4	1	3	2	3	4	2	2	3	4	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr11:134114931T>A	ENST00000281187.5	+	5	1299	c.821T>A	c.(820-822)cTg>cAg	p.L274Q	VPS26B_ENST00000525095.2_Missense_Mutation_p.L274Q	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	274					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TACCTCAACCTGGTGCTGATA	0.607											OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(171;1263 1952 15904 45703 47982)												0													87	75	79					11																	134114931		2201	4297	6498	SO:0001583	missense	0				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.821T>A	11.37:g.134114931T>A	ENSP00000281187:p.Leu274Gln	1608	Q96A55	Missense_Mutation	SNP	pfam_VPS26,superfamily_Ig_E-set	p.L274Q	ENST00000281187.5	37	c.821	CCDS8495.1	11	.	.	.	.	.	.	.	.	.	.	T	29.1	4.979969	0.92982	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.87450	0.6180	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91406	0.5147	9	0.87932	D	0	-21.506	15.5689	0.76317	0.0:0.0:0.0:1.0	.	274	Q4G0F5	VP26B_HUMAN	Q	274;273	.	ENSP00000281187:L274Q	L	+	2	0	VPS26B	133620141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.266000	0.75297	0.533000	0.62120	CTG	VPS26B	-	pfam_VPS26	ENSG00000151502		0.607	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26B	HGNC	protein_coding	OTTHUMT00000393591.1		0	61	0	T	NM_052875		134114931	1			no_errors	ENST00000281187	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	A	A	134114931	T	A	134114931	3	1	134	1	0	0	0	0	1	0	0	0	17247	1580	55	5	839	5	VPS26B	11	134114931	Missense_Mutation	SNP	T	TCGA-LN-A9FQ-01A-31D-A387-09	9375088	134114931	891585	123	34575											
LEPREL2	27239	genome.wustl.edu	37	chr12	6939135	6939135	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacgaatgtcgggagttcGgccccagagcttccgggacc	8	6	14	13	4	0	2	0	0	0	2	3	5	1	4	4	3	1	2	4	3	1	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:6939135G>A	ENST00000311268.3	+	0	2768				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162							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						TCGGGAGTTCGGCCCCAGAGC	0.602																																																	0													58	63	62					12																	6939135		1987	4159	6146	SO:0001628	intergenic_variant	0			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			12.37:g.6939135G>A			Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	smart_Pro_4_hyd_alph	p.R203Q	ENST00000311268.3	37	c.608	CCDS8563.1	12	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908313	0.52333	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.57752	0.38;0.38	4.85	-0.966	0.10320	.	0.439392	0.25192	N	0.032445	T	0.40694	0.1127	.	.	.	0.09310	N	1	D;B	0.63046	0.992;0.0	P;B	0.45538	0.484;0.0	T	0.38845	-0.9642	9	0.38643	T	0.18	-4.5751	6.9396	0.24486	0.3833:0.1198:0.4969:0.0	.	204;227	Q8IVL6;Q13513	P3H3_HUMAN;.	Q	203;19	ENSP00000379951:R203Q;ENSP00000290510:R19Q	ENSP00000290510:R19Q	R	+	2	0	LEPREL2	6809396	0.004000	0.15560	0.052000	0.19188	0.919000	0.55068	0.217000	0.17603	-0.321000	0.08627	-0.458000	0.05436	CGG	LEPREL2	-	NULL	ENSG00000110811		0.602	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL2	HGNC	protein_coding	OTTHUMT00000399478.1	-	0	74	0	G	NM_019858		6939135	1	tier1	-	no_errors	ENST00000396725	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.022	A	A	6939135	G	A	6939135	1	1	134	0	1	0	0	0	0	0	0	0	8759	1116	39	1		1	LEPREL2	12	6939135	IGR	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09		6939135	126912760	124	34576											
KLRC4	8302	genome.wustl.edu	37	chr12	10562135	10562135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcctctttgggtcctgggCcagactcacttctgagtagg	5	12	12	12	0	3	2	1	1	2	1	4	2	4	2	3	3	1	1	3	3	1	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:10562135C>T	ENST00000309384.1	-	1	221	c.40G>A	c.(40-42)Gcc>Acc	p.A14T	KLRC4-KLRK1_ENST00000539300.1_Missense_Mutation_p.G5D	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	14					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						GGGTCCTGGGCCAGACTCACT	0.408																																																	0													197	190	192					12																	10562135		2203	4300	6503	SO:0001583	missense	0			U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"Killer cell lectin-like receptors"	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.40G>A	12.37:g.10562135C>T	ENSP00000310216:p.Ala14Thr		O60851	Missense_Mutation	SNP	superfamily_C-type_lectin_fold	p.A14T	ENST00000309384.1	37	c.40	CCDS8624.1	12	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645993	0.47258	.	.	ENSG00000183542	ENST00000309384	T	0.09255	3.0	4.0	-4.77	0.03219	.	2.086650	0.01802	N	0.032926	T	0.30823	0.0777	M	0.82716	2.605	0.09310	N	1	D	0.71674	0.998	D	0.70487	0.969	T	0.49485	-0.8935	10	0.51188	T	0.08	.	5.9224	0.19091	0.0:0.1879:0.4204:0.3917	.	14	O43908	NKG2F_HUMAN	T	14	ENSP00000310216:A14T	ENSP00000310216:A14T	A	-	1	0	KLRC4	10453402	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.264000	0.02847	-0.946000	0.03677	-0.515000	0.04445	GCC	KLRC4	-	NULL	ENSG00000183542		0.408	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRC4	HGNC	protein_coding	OTTHUMT00000400108.1	-	0	162	0	C	NM_013431		10562135	-1	tier1	-	no_errors	ENST00000309384	ensembl	human	known	74_37	missense	44.03	75	59	SNP	0.000	T	T	10562135	C	T	10562135	3	4	134	1	0	0	0	0	1	0	0	0	8445	739	26	3	452	3	KLRC4	12	10562135	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	3623000	10562135	123289760	125	34577											
OR8S1	341568	genome.wustl.edu	37	chr12	48919861	48919861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccttgtgtggggctcatgGggactgggctttctggacgc	4	11	16	10	1	2	0	1	0	1	0	2	2	2	2	1	6	0	2	1	6	0	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:48919861G>T	ENST00000310194.1	+	1	447	c.447G>T	c.(445-447)tgG>tgT	p.W149C	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	149						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(1)|large_intestine(4)|lung(11)|skin(4)	22						GGGGCTCATGGGGACTGGGCT	0.502																																																	0													173	158	163					12																	48919861		2203	4300	6503	SO:0001583	missense	0				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.447G>T	12.37:g.48919861G>T	ENSP00000310632:p.Trp149Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.W149C	ENST00000310194.1	37	c.447	CCDS31789.1	12	.	.	.	.	.	.	.	.	.	.	G	9.145	1.014819	0.19355	.	.	ENSG00000197376	ENST00000310194	T	0.59638	0.25	5.03	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38326	N	0.001724	T	0.72187	0.3429	M	0.84511	2.7	0.44570	D	0.997533	P	0.45768	0.866	P	0.56434	0.798	T	0.76083	-0.3089	10	0.59425	D	0.04	-34.9691	12.3077	0.54912	0.0:0.0:0.5567:0.4433	.	149	Q8NH09	OR8S1_HUMAN	C	149	ENSP00000310632:W149C	ENSP00000310632:W149C	W	+	3	0	OR8S1	47206128	0.574000	0.26684	0.074000	0.20217	0.114000	0.19823	0.787000	0.26858	0.684000	0.31448	-0.152000	0.13540	TGG	OR8S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197376		0.502	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	HGNC	protein_coding	OTTHUMT00000406881.1		0	73	0	G			48919861	1			no_errors	ENST00000310194	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.806	T	T	48919861	G	T	48919861	3	4	134	1	0	0	0	0	1	0	0	0	11285	1241	43	3	449	3	OR8S1	12	48919861	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	38357726	48919861	84932034	126	34578											
LIMA1	51474	genome.wustl.edu	37	chr12	50616162	50616162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatctcagtgctgctgttcCgtagagagtctgtgtgagac	8	13	12	8	1	2	2	1	1	2	2	4	4	3	2	1	0	2	4	1	0	2	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:50616162C>T	ENST00000341247.4	-	4	421	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	LIMA1_ENST00000552823.1_5'Flank|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552008.1_5'Flank|LIMA1_ENST00000394943.3_Missense_Mutation_p.R91Q|LIMA1_ENST00000552909.1_5'Flank|LIMA1_ENST00000552783.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	91					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						GCTGCTGTTCCGTAGAGAGTC	0.517																																																	0													171	148	156					12																	50616162		2203	4300	6503	SO:0001583	missense	0			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.272G>A	12.37:g.50616162C>T	ENSP00000340184:p.Arg91Gln		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R91Q	ENST00000341247.4	37	c.272	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	C	8.260	0.810959	0.16537	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	D;T	0.83992	-1.79;-1.05	5.53	-1.88	0.07713	.	0.877721	0.10046	N	0.722839	T	0.66167	0.2762	L	0.27053	0.805	0.25466	N	0.987877	B;B	0.22480	0.07;0.031	B;B	0.08055	0.003;0.003	T	0.49872	-0.8893	10	0.33940	T	0.23	.	3.2831	0.06922	0.1027:0.3567:0.1051:0.4355	.	100;91	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	Q	91	ENSP00000378400:R91Q;ENSP00000340184:R91Q	ENSP00000340184:R91Q	R	-	2	0	LIMA1	48902429	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	0.065000	0.14466	-0.277000	0.09193	0.655000	0.94253	CGG	LIMA1	-	NULL	ENSG00000050405		0.517	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	-	0	25	0	C	NM_016357		50616162	-1	tier1	-	no_errors	ENST00000394943	ensembl	human	known	74_37	missense	73.33	8	22	SNP	0.000	T	T	50616162	C	T	50616162	3	4	134	1	0	0	0	0	1	0	0	0	8825	652	23	1	2042	1	LIMA1	12	50616162	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	1696301	50616162	83235733	127	34579											
KRT1	3848	genome.wustl.edu	37	chr12	53069050	53069050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagaggacttgacacccCcagagctggatccccggcct	9	5	10	17	1	0	3	0	1	0	2	1	5	1	5	6	3	1	1	6	3	0	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:53069050C>T	ENST00000252244.3	-	9	1920	c.1862G>A	c.(1861-1863)gGg>gAg	p.G621E		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	621	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTTGACACCCCCAGAGCTGGA	0.612																																																	0													58	68	65					12																	53069050		2203	4300	6503	SO:0001583	missense	0			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.1862G>A	12.37:g.53069050C>T	ENSP00000252244:p.Gly621Glu		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G621E	ENST00000252244.3	37	c.1862	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551461	0.45487	.	.	ENSG00000167768	ENST00000252244	D	0.95980	-3.87	4.32	3.41	0.39046	.	.	.	.	.	D	0.86764	0.6011	N	0.08118	0	0.33863	D	0.634079	B	0.27997	0.197	B	0.24269	0.052	D	0.86296	0.1677	9	0.48119	T	0.1	.	5.5154	0.16904	0.0:0.6462:0.1736:0.1802	.	621	P04264	K2C1_HUMAN	E	621	ENSP00000252244:G621E	ENSP00000252244:G621E	G	-	2	0	KRT1	51355317	0.392000	0.25229	0.987000	0.45799	0.883000	0.51084	1.973000	0.40550	2.134000	0.65973	0.313000	0.20887	GGG	KRT1	-	NULL	ENSG00000167768		0.612	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	-	0	30	0	C	NM_006121		53069050	-1	tier1	-	no_errors	ENST00000252244	ensembl	human	known	74_37	missense	63.16	7	12	SNP	0.815	T	T	53069050	C	T	53069050	3	4	134	1	0	0	0	0	1	0	0	0	8474	623	22	3	76	3	KRT1	12	53069050	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	2452888	53069050	80782845	128	34580											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85449564	85449564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaaaaatacgacaaaaGgaggaagaaaatcgaaaaag	25	2	10	4	2	0	1	0	0	0	1	1	6	0	3	0	2	2	1	0	2	11	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:85449564G>T	ENST00000393217.2	+	8	1054	c.993G>T	c.(991-993)aaG>aaT	p.K331N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	331	Glu-rich.							p.K331K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		tacgacaaaaggaggaagaaa	0.338																																																	2	Substitution - coding silent(2)	endometrium(2)											24	25	25					12																	85449564		2192	4277	6469	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.993G>T	12.37:g.85449564G>T	ENSP00000376910:p.Lys331Asn		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.K331N	ENST00000393217.2	37	c.993	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	3.541	-0.093650	0.07053	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.56444	0.46	5.27	0.976	0.19727	.	0.943969	0.08849	N	0.884687	T	0.35828	0.0945	L	0.29908	0.895	0.09310	N	1	B;P	0.42409	0.201;0.779	B;B	0.33690	0.109;0.168	T	0.11991	-1.0565	10	0.51188	T	0.08	.	8.618	0.33845	0.4808:0.0:0.5192:0.0	.	331;306	Q96JM4;C9JI57	LRIQ1_HUMAN;.	N	331;306;331	ENSP00000376910:K331N	ENSP00000256007:K331N	K	+	3	2	LRRIQ1	83973695	0.070000	0.21116	0.140000	0.22221	0.122000	0.20287	0.166000	0.16583	-0.094000	0.12374	0.313000	0.20887	AAG	LRRIQ1	-	NULL	ENSG00000133640		0.338	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2		0	27	0	G	NM_032165		85449564	1			no_errors	ENST00000393217	ensembl	human	known	74_37	missense	14.29	12	2	SNP	0.074	T	T	85449564	G	T	85449564	3	4	134	1	0	0	0	0	1	0	0	0	9064	991	35	3	1019	3	LRRIQ1	12	85449564	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	32380514	85449564	48402331	129	34581											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85518212	85518212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagcaaggcaagcagtattCccaccataagaatcccattt	15	8	6	12	0	0	1	0	0	0	1	2	1	2	1	3	1	2	4	3	1	5	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:85518212C>T	ENST00000393217.2	+	17	3983	c.3922C>T	c.(3922-3924)Ccc>Tcc	p.P1308S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1308										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGCAGTATTCCCACCATAAG	0.363																																																	0													166	183	177					12																	85518212		2203	4300	6503	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3922C>T	12.37:g.85518212C>T	ENSP00000376910:p.Pro1308Ser		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.P1308S	ENST00000393217.2	37	c.3922	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	C	2.197	-0.383954	0.04966	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.46819	0.86	5.33	-2.7	0.06004	.	0.793987	0.11182	N	0.590834	T	0.17195	0.0413	N	0.03608	-0.345	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.11329	0.006;0.006	T	0.12192	-1.0557	10	0.37606	T	0.19	.	0.4425	0.00488	0.2475:0.3017:0.1346:0.3162	.	1308;1283	Q96JM4;C9JI57	LRIQ1_HUMAN;.	S	1308;1283;1308	ENSP00000376910:P1308S	ENSP00000256007:P1308S	P	+	1	0	LRRIQ1	84042343	0.000000	0.05858	0.001000	0.08648	0.395000	0.30598	-0.365000	0.07573	-0.493000	0.06678	-0.282000	0.10007	CCC	LRRIQ1	-	NULL	ENSG00000133640		0.363	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	50	0	C	NM_032165		85518212	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.000	T	T	85518212	C	T	85518212	3	4	134	1	0	0	0	0	1	0	0	0	9064	855	30	3	3984	3	LRRIQ1	12	85518212	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	68648	85518212	48333683	130	34582											
POLR3B	55703	genome.wustl.edu	37	chr12	106848301	106848301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactataggatacaaccagcGaaacagaattgatactctca	17	9	6	9	1	1	2	1	1	1	1	2	4	1	3	1	1	6	0	1	1	8	6			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:106848301G>T	ENST00000228347.4	+	20	2327	c.2105G>T	c.(2104-2106)cGa>cTa	p.R702L	POLR3B_ENST00000539066.1_Missense_Mutation_p.R644L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	702					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)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TACAACCAGCGAAACAGAATT	0.318																																																	0													73	70	71					12																	106848301		2203	4300	6503	SO:0001583	missense	0			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2105G>T	12.37:g.106848301G>T	ENSP00000228347:p.Arg702Leu		A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.R702L	ENST00000228347.4	37	c.2105	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348313	0.24426	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.71103	-0.54;-0.54	5.88	5.0	0.66597	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	L	0.39514	1.22	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.55636	-0.8110	10	0.09590	T	0.72	-18.8338	15.3462	0.74340	0.0667:0.0:0.9333:0.0	.	702	Q9NW08	RPC2_HUMAN	L	702;644	ENSP00000228347:R702L;ENSP00000445721:R644L	ENSP00000228347:R702L	R	+	2	0	POLR3B	105372431	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.994000	0.88315	1.511000	0.48818	-0.128000	0.14901	CGA	POLR3B	-	pfam_DNA-dir_RNA_pol_su2_6	ENSG00000013503		0.318	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1	-	0	42	0	G	NM_018082		106848301	1	tier1	-	no_errors	ENST00000228347	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	T	T	106848301	G	T	106848301	3	4	134	1	0	0	0	0	1	0	0	0	12268	1058	37	2	2183	2	POLR3B	12	106848301	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	21330089	106848301	27003594	131	34583											
RIC8B	55188	genome.wustl.edu	37	chr12	107208704	107208704	+	Silent	SNP	G	G	C	0	0	1	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	gtggagtcattaaaatgtctGtgtaatatagtgttcaacag	13	14	10	4	0	3	0	2	0	1	0	3	1	3	1	0	1	1	2	0	1	6	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:107208704G>C	ENST00000392839.2	+	3	469	c.363G>C	c.(361-363)ctG>ctC	p.L121L	RIC8B_ENST00000355478.2_Silent_p.L81L|RIC8B_ENST00000392837.4_Silent_p.L121L|RIC8B_ENST00000549643.1_Intron	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	121					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TAAAATGTCTGTGTAATATAG	0.428																																																	0													79	78	78					12																	107208704		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.363G>C	12.37:g.107208704G>C			A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Silent	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.L121	ENST00000392839.2	37	c.363	CCDS9109.2	12																																																																																			RIC8B	-	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold	ENSG00000111785		0.428	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	RIC8B	HGNC	protein_coding	OTTHUMT00000291398.2	-	0	47	0	G	NM_018157		107208704	1	tier1	-	no_errors	ENST00000392837	ensembl	human	known	74_37	silent	14.89	40	7	SNP	1.000	C	C	107208704	G	C	107208704	2	2	134	1	0	0	0	0	0	0	0	1	13401	1364	48	5		5	RIC8B	12	107208704	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	360403	107208704	26643191	132	34584											
C12orf51	283450	genome.wustl.edu	37	chr12	112641530	112641530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcagttccaacagcactGctggctacattattgctgtc	10	11	9	11	0	0	1	0	0	0	1	2	1	1	1	1	1	6	6	1	1	3	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:112641530G>A	ENST00000430131.2	-	53	8195	c.7050C>T	c.(7048-7050)agC>agT	p.S2350S	HECTD4_ENST00000550722.1_Silent_p.S2626S|HECTD4_ENST00000377560.5_Silent_p.S2600S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2350					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)										CAACAGCACTGCTGGCTACAT	0.478																																																	0													62	59	60					12																	112641530		1875	4114	5989	SO:0001819	synonymous_variant	0			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.7050C>T	12.37:g.112641530G>A			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.S2600	ENST00000430131.2	37	c.7800		12	.	.	.	.	.	.	.	.	.	.	G	5.297	0.240179	0.10023	.	.	ENSG00000173064	ENST00000550968	.	.	.	6.17	4.35	0.52113	.	.	.	.	.	T	0.59445	0.2194	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55585	-0.8118	4	.	.	.	.	9.1497	0.36955	0.1286:0.1201:0.7513:0.0	.	.	.	.	V	517	.	.	A	-	2	0	C12orf51	111125913	1.000000	0.71417	0.992000	0.48379	0.511000	0.34104	3.142000	0.50601	0.922000	0.37019	-0.137000	0.14449	GCA	HECTD4	-	NULL	ENSG00000173064		0.478	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	50	0	G	NM_173813		112641530	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.996	A	A	112641530	G	A	112641530	2	1	134	1	0	0	0	0	0	0	0	1	1701	1310	46	3		3	C12orf51	12	112641530	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	5432826	112641530	21210365	133	34585											
POLE	5426	genome.wustl.edu	37	chr12	133209313	133209313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gctggcccccctcctcctcaCgggggtgctccctggagcac	3	7	12	19	1	1	0	1	0	0	0	4	1	4	1	6	4	2	3	6	4	0	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr12:133209313C>T	ENST00000320574.5	-	44	6116	c.6073G>A	c.(6073-6075)Gtg>Atg	p.V2025M	POLE_ENST00000535270.1_Missense_Mutation_p.V1998M|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2025					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)	CTCCTCCTCACGGGGGTGCTC	0.657								DNA polymerases (catalytic subunits)																																									0													33	34	34					12																	133209313		2203	4298	6501	SO:0001583	missense	0				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.6073G>A	12.37:g.133209313C>T	ENSP00000322570:p.Val2025Met		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.V2025M	ENST00000320574.5	37	c.6073	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194139	0.38707	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.55234	0.53;0.53;0.53	5.58	2.28	0.28536	.	0.475968	0.23534	N	0.047149	T	0.43211	0.1237	M	0.68952	2.095	0.27346	N	0.95639	P;B	0.38280	0.625;0.359	B;B	0.32022	0.139;0.085	T	0.33497	-0.9866	10	0.37606	T	0.19	.	7.7288	0.28775	0.0:0.6154:0.1239:0.2608	.	2025;235	Q07864;B3KS74	DPOE1_HUMAN;.	M	235;2025;2036;1998	ENSP00000322570:V2025M;ENSP00000406383:V2036M;ENSP00000445753:V1998M	ENSP00000322570:V2025M	V	-	1	0	POLE	131719386	0.002000	0.14202	0.918000	0.36340	0.874000	0.50279	0.070000	0.14573	0.717000	0.32145	-0.361000	0.07541	GTG	POLE	-	NULL	ENSG00000177084		0.657	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0	30	0	C	NM_006231		133209313	-1	tier1	-	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.351	T	T	133209313	C	T	133209313	3	4	134	1	0	0	0	0	1	0	0	0	12235	536	19	1	811	1	POLE	12	133209313	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	20567783	133209313	642582	134	34586											
TGM1	7051	genome.wustl.edu	37	chr14	24724341	24724341	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagatcctgccccatcacCgcgtcctgtgcctccacctg	6	9	7	19	2	2	1	2	0	0	1	5	1	5	1	8	0	2	0	8	0	0	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:24724341C>T	ENST00000206765.6	-	12	1887	c.1764G>A	c.(1762-1764)gcG>gcA	p.A588A	TGM1_ENST00000544573.1_Silent_p.A146A	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	588					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)	GCCCCATCACCGCGTCCTGTG	0.577																																																	0													95	78	84					14																	24724341		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1764G>A	14.37:g.24724341C>T			B4DWR7|Q197M4	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A588	ENST00000206765.6	37	c.1764	CCDS9622.1	14																																																																																			TGM1	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000092295		0.577	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	-	0	37	0	C	NM_000359		24724341	-1	tier1	-	no_errors	ENST00000206765	ensembl	human	known	74_37	silent	60.00	16	24	SNP	0.000	T	T	24724341	C	T	24724341	2	4	134	1	0	0	0	0	0	0	0	1	15876	639	23	1		1	TGM1	14	24724341	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09		24724341	82625199	135	34587											
NPAS3	64067	genome.wustl.edu	37	chr14	34270029	34270029	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccgccgaggtgaccctggCcatgcagagcaacctgctgc	7	5	13	16	2	0	2	0	1	0	1	0	3	0	2	5	2	5	3	5	2	1	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:34270029C>A	ENST00000356141.4	+	12	2516	c.2516C>A	c.(2515-2517)gCc>gAc	p.A839D	NPAS3_ENST00000551492.1_Missense_Mutation_p.A844D|NPAS3_ENST00000357798.5_Missense_Mutation_p.A826D|NPAS3_ENST00000346562.2_Missense_Mutation_p.A807D|NPAS3_ENST00000548645.1_Missense_Mutation_p.A809D			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	839					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)		GTGACCCTGGCCATGCAGAGC	0.677																																																	0													36	27	30					14																	34270029		2197	4299	6496	SO:0001583	missense	0			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.2516C>A	14.37:g.34270029C>A	ENSP00000348460:p.Ala839Asp		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.A839D	ENST00000356141.4	37	c.2516	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235505	0.58886	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.11063	3.07;2.93;2.96;2.96;2.94;2.81	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.65815	0.995;0.991;0.995;0.995	D;P;D;D	0.63877	0.919;0.831;0.919;0.919	T	0.02378	-1.1168	10	0.87932	D	0	.	16.521	0.84317	0.0:1.0:0.0:0.0	.	809;839;807;826	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	D	813;844;807;809;839;826	ENSP00000448373:A813D;ENSP00000450392:A844D;ENSP00000319610:A807D;ENSP00000448916:A809D;ENSP00000348460:A839D;ENSP00000350446:A826D	ENSP00000319610:A807D	A	+	2	0	NPAS3	33339780	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.508000	0.67006	2.310000	0.77875	0.484000	0.47621	GCC	NPAS3	-	NULL	ENSG00000151322		0.677	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	-	0	38	0	C			34270029	1	tier1	-	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	10.26	34	4	SNP	1.000	A	A	34270029	C	A	34270029	3	1	134	1	0	0	0	0	1	0	0	0	10603	739	26	3	2617	3	NPAS3	14	34270029	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	9545688	34270029	73079511	136	34588											
PELI2	57161	genome.wustl.edu	37	chr14	56755351	56755351	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttccaaaaacatatttcttgGagtaagtactgtcaagaagt	15	13	7	6	0	2	1	1	0	1	1	3	2	3	2	1	1	2	2	1	1	7	6			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:56755351G>C	ENST00000267460.4	+	4	792	c.506G>C	c.(505-507)gGa>gCa	p.G169A		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	169	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						ATATTTCTTGGAGTAAGTACT	0.398																																																	0													55	48	51					14																	56755351		2203	4300	6503	SO:0001630	splice_region_variant	0			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.507+1G>C	14.37:g.56755351G>C			B2RDY5	Missense_Mutation	SNP	pfam_Pellino_fam	p.G169A	ENST00000267460.4	37	c.506	CCDS9726.1	14	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018937	0.93404	.	.	ENSG00000139946	ENST00000267460	T	0.52754	0.65	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.77040	-0.2735	10	0.87932	D	0	-17.9314	19.3706	0.94481	0.0:0.0:1.0:0.0	.	169	Q9HAT8	PELI2_HUMAN	A	169	ENSP00000267460:G169A	ENSP00000267460:G169A	G	+	2	0	PELI2	55825104	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.584000	0.87258	0.655000	0.94253	GGA	PELI2	-	pfam_Pellino_fam	ENSG00000139946		0.398	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI2	HGNC	protein_coding	OTTHUMT00000276925.1	-	0	51	0	G		Missense_Mutation	56755351	1	tier1	-	no_errors	ENST00000267460	ensembl	human	known	74_37	missense	26.79	41	15	SNP	1.000	C	C	56755351	G	C	56755351	5	2	134	1	0	0	0	0	0	0	1	0	11761	1188	41	5	520	5	PELI2	14	56755351	Splice_Site	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	22485322	56755351	50594189	137	34589											
SNAPC1	6617	genome.wustl.edu	37	chr14	62233649	62233649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaagaagctttagctttgGcttggcgatattttttacct	10	16	8	7	1	0	1	0	0	0	1	0	2	0	1	1	2	3	3	1	2	6	8			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:62233649G>T	ENST00000216294.4	+	2	288	c.184G>T	c.(184-186)Gct>Tct	p.A62S	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	62	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)		TTTAGCTTTGGCTTGGCGATA	0.333																																					NSCLC(27;223 907 37180 39193 46568)												0													111	112	111					14																	62233649		2203	4300	6503	SO:0001583	missense	0			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.184G>T	14.37:g.62233649G>T	ENSP00000216294:p.Ala62Ser			Missense_Mutation	SNP	pfam_SNAPc_SNAP43	p.A62S	ENST00000216294.4	37	c.184	CCDS9755.1	14	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507665	0.64410	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.76	4.81	0.61882	.	0.142672	0.64402	D	0.000006	T	0.59238	0.2179	L	0.56124	1.755	0.52501	D	0.999953	B	0.27823	0.19	B	0.28709	0.093	T	0.59573	-0.7429	9	0.49607	T	0.09	-0.0318	15.9337	0.79686	0.0:0.0:0.8644:0.1356	.	62	Q16533	SNPC1_HUMAN	S	62	.	ENSP00000216294:A62S	A	+	1	0	SNAPC1	61303402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.584000	0.74057	2.882000	0.98803	0.655000	0.94253	GCT	SNAPC1	-	pfam_SNAPc_SNAP43	ENSG00000023608		0.333	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC1	HGNC	protein_coding	OTTHUMT00000276976.2		0	93	0	G	NM_003082		62233649	1			no_errors	ENST00000216294	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	62233649	G	T	62233649	3	4	134	1	0	0	0	0	1	0	0	0	14879	1203	42	3	190	3	SNAPC1	14	62233649	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	5478298	62233649	45115891	138	34590											
ZNF410	57862	genome.wustl.edu	37	chr14	74376101	74376101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttcctttgctgagtattCtagcctccgaaaacatctgg	8	13	8	12	2	2	1	0	1	2	0	4	2	4	1	4	1	3	3	4	1	4	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:74376101C>A	ENST00000555044.1	+	8	1165	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.S324Y|ZNF410_ENST00000540593.1_Missense_Mutation_p.S251Y|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.S341Y|ZNF410_ENST00000334521.4_Missense_Mutation_p.S271Y|Y_RNA_ENST00000362602.1_RNA	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTGAGTATTCTAGCCTCCGA	0.428																																																	0													174	175	174					14																	74376101		2203	4300	6503	SO:0001583	missense	0			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.971C>A	14.37:g.74376101C>A	ENSP00000451763:p.Ser324Tyr		B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S324Y	ENST00000555044.1	37	c.971	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655681	0.88056	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000554316	T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;3.18	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000810	T	0.55210	0.1906	L	0.52266	1.64	0.80722	D	1	D;D;D;D;D;D	0.71674	0.998;0.998;0.997;0.997;0.998;0.995	D;D;D;D;D;D	0.79784	0.991;0.993;0.987;0.991;0.991;0.979	T	0.56226	-0.8014	10	0.72032	D	0.01	.	16.8668	0.86030	0.0:1.0:0.0:0.0	.	324;251;341;324;313;324	B2RCP6;B4DR78;B4DDV5;Q86VK4-3;B4DPE9;Q86VK4	.;.;.;.;.;ZN410_HUMAN	Y	251;324;313;341;324;271;55	ENSP00000442228:S251Y;ENSP00000323293:S324Y;ENSP00000407130:S341Y;ENSP00000451763:S324Y;ENSP00000334170:S271Y;ENSP00000451748:S55Y	ENSP00000323293:S324Y	S	+	2	0	ZNF410	73445854	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.678000	0.74508	2.648000	0.89879	0.655000	0.94253	TCT	ZNF410	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000119725		0.428	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	-	0	73	0	C	NM_021188		74376101	1	tier1	-	no_errors	ENST00000555044	ensembl	human	known	74_37	missense	42.11	44	32	SNP	1.000	A	A	74376101	C	A	74376101	3	1	134	1	0	0	0	0	1	0	0	0	17938	913	32	3	997	3	ZNF410	14	74376101	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	12142452	74376101	32973439	139	34591											
YLPM1	56252	genome.wustl.edu	37	chr14	75266005	75266005	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcttccacctttaccGcccctcccacctcttccacc	5	11	1	24	1	2	0	0	0	2	0	6	0	5	0	10	0	1	0	10	0	1	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:75266005G>A	ENST00000325680.7	+	5	4129	c.4005G>A	c.(4003-4005)ccG>ccA	p.P1335P	YLPM1_ENST00000238571.3_Silent_p.P1140P|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1140					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)		CACCTTTACCGCCCCTCCCAC	0.463																																																	0													118	117	117					14																	75266005		1899	4120	6019	SO:0001819	synonymous_variant	0			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.4005G>A	14.37:g.75266005G>A			P49752|Q96I64|Q9P1V7	Silent	SNP	superfamily_P-loop_NTPase	p.P1335	ENST00000325680.7	37	c.4005	CCDS45135.1	14																																																																																			YLPM1	-	NULL	ENSG00000119596		0.463	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404451.1	-	0	35	0	G	NM_019589		75266005	1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	silent	38.71	19	12	SNP	1.000	A	A	75266005	G	A	75266005	2	1	134	1	0	0	0	0	0	0	0	1	17535	1074	38	1		1	YLPM1	14	75266005	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	889904	75266005	32083535	140	34592											
KCNK13	56659	genome.wustl.edu	37	chr14	90650686	90650686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaggtggacagcctggccgGctggaagccctccgtgtact	6	8	15	12	2	0	1	0	1	0	0	1	3	1	3	4	5	3	2	4	5	2	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:90650686G>A	ENST00000282146.4	+	2	1007	c.566G>A	c.(565-567)gGc>gAc	p.G189D		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	189					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				AGCCTGGCCGGCTGGAAGCCC	0.627																																																	0													121	106	111					14																	90650686		2203	4300	6503	SO:0001583	missense	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.566G>A	14.37:g.90650686G>A	ENSP00000282146:p.Gly189Asp		B5TJL8|Q96E79	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.G189D	ENST00000282146.4	37	c.566	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	G	11.86	1.766064	0.31228	.	.	ENSG00000152315	ENST00000282146	T	0.12879	2.64	5.31	2.36	0.29203	.	0.396131	0.18615	N	0.136048	T	0.12390	0.0301	L	0.55481	1.735	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.10847	-1.0612	10	0.10636	T	0.68	.	10.5518	0.45092	0.069:0.249:0.682:0.0	.	189	Q9HB14	KCNKD_HUMAN	D	189	ENSP00000282146:G189D	ENSP00000282146:G189D	G	+	2	0	KCNK13	89720439	1.000000	0.71417	0.889000	0.34880	0.478000	0.33099	4.843000	0.62838	0.189000	0.20188	0.655000	0.94253	GGC	KCNK13	-	NULL	ENSG00000152315		0.627	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1		0	44	0	G	NM_022054		90650686	1			no_errors	ENST00000282146	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	A	A	90650686	G	A	90650686	3	1	134	1	0	0	0	0	1	0	0	0	8088	1203	42	3	572	3	KCNK13	14	90650686	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	15384681	90650686	16698854	141	34593											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102472350	102472350	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccctaagcaaactgatgtGttacagcagttgtcaattca	13	11	8	9	0	2	1	2	1	0	0	2	2	2	1	1	0	4	4	1	0	4	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:102472350G>T	ENST00000360184.4	+	27	5723	c.5559G>T	c.(5557-5559)gtG>gtT	p.V1853V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1853	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						AAACTGATGTGTTACAGCAGT	0.433																																																	0													146	138	141					14																	102472350		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5559G>T	14.37:g.102472350G>T			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.V1853	ENST00000360184.4	37	c.5559	CCDS9966.1	14																																																																																			DYNC1H1	-	superfamily_P-loop_NTPase	ENSG00000197102		0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	58	0	G	NM_001376		102472350	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.996	T	T	102472350	G	T	102472350	2	4	134	1	0	0	0	0	0	0	0	1	4855	1364	48	3		3	DYNC1H1	14	102472350	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	11821664	102472350	4877190	142	34594											
INF2	64423	genome.wustl.edu	37	chr14	105177441	105177442	+	Missense_Mutation	DNP	GC	GC	TT																															ccacaccggtgacgccgacgGcttcaagatcagcacattgc																										TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:105177441_105177442GC>TT	ENST00000392634.4	+	15	2448_2449	c.2336_2337GC>TT	c.(2335-2337)gGC>gTT	p.G779V	INF2_ENST00000330634.7_Missense_Mutation_p.G779V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	779	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GACGCCGACGGCTTCAAGATCA	0.663																																																	0																																										SO:0001583	missense	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	Exception_encountered	14.37:g.105177441_105177442delinsTT	ENSP00000376410:p.Gly779Val		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation|Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.G779V|p.G779	ENST00000392634.4	37	c.2336|c.2337	CCDS9989.2	14																																																																																			INF2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000203485		0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4		0	28	0	G|C	NM_022489		105177441|105177442	1			no_errors	ENST00000392634	ensembl	human	known	74_37	missense|silent	12.50	14|13	2	SNP	1.000|0.997	T	TT	105177442	GC	TT	105177441	3	4	134	1	0	0	0	0	1	0	0	0	7761	1203	42	3	2394	3	INF2	14	105177441	Missense_Mutation	DNP	GC	TCGA-LN-A9FQ-01A-31D-A387-09	2705091	105177441	2172099	143	34595											
SIVA1	10572	genome.wustl.edu	37	chr14	105223046	105223046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgcgggcagtgtgtgcGcacctgctggggctgcggct	2	9	18	12	3	0	0	0	0	0	0	0	0	0	0	2	4	4	5	2	4	0	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr14:105223046G>A	ENST00000329967.6	+	3	521	c.419G>A	c.(418-420)cGc>cAc	p.R140H	SIVA1_ENST00000347067.5_Missense_Mutation_p.R75H	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	140					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|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;0.173)		CAGTGTGTGCGCACCTGCTGG	0.642																																																	0													100	89	93					14																	105223046		2203	4300	6503	SO:0001583	missense	0			U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.419G>A	14.37:g.105223046G>A	ENSP00000329213:p.Arg140His		Q96P98|Q9UPD6	Missense_Mutation	SNP	pfam_Siva_cd27-bd,pirsf_Siva_cd27-bd	p.R140H	ENST00000329967.6	37	c.419	CCDS9992.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.657174|1.657174	0.29425|0.29425	.|.	.|.	ENSG00000184990|ENSG00000184990	ENST00000556195|ENST00000329967;ENST00000347067;ENST00000553810	.|.	.|.	.|.	4.77|4.77	1.83|1.83	0.25207|0.25207	.|.	.|0.587614	.|0.16146	.|N	.|0.227487	T|T	0.24624|0.24624	0.0597|0.0597	N|N	0.20401|0.20401	0.57|0.57	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.26081	.|0.141;0.098;0.141	.|B;B;B	.|0.20184	.|0.019;0.011;0.028	T|T	0.14392|0.14392	-1.0474|-1.0474	5|9	.|0.42905	.|T	.|0.14	-17.4079|-17.4079	7.8826|7.8826	0.29631|0.29631	0.3569:0.0:0.6431:0.0|0.3569:0.0:0.6431:0.0	.|.	.|140;75;140	.|B4DTY2;O15304-2;O15304	.|.;.;SIVA_HUMAN	T|H	158|140;75;140	.|.	.|ENSP00000329213:R140H	A|R	+|+	1|2	0|0	SIVA1|SIVA1	104294091|104294091	0.002000|0.002000	0.14202|0.14202	0.069000|0.069000	0.20011|0.20011	0.938000|0.938000	0.57974|0.57974	0.515000|0.515000	0.22801|0.22801	0.590000|0.590000	0.29694|0.29694	0.561000|0.561000	0.74099|0.74099	GCA|CGC	SIVA1	-	pfam_Siva_cd27-bd,pirsf_Siva_cd27-bd	ENSG00000184990		0.642	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIVA1	HGNC	protein_coding	OTTHUMT00000410541.1	-	0	63	0	G	NM_006427		105223046	1	tier1	-	no_errors	ENST00000329967	ensembl	human	known	74_37	missense	22.54	55	16	SNP	0.035	A	A	105223046	G	A	105223046	3	1	134	1	0	0	0	0	1	0	0	0	14390	1087	38	1	429	1	SIVA1	14	105223046	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	45605	105223046	2126494	144	34596											
RNF111	54778	genome.wustl.edu	37	chr15	59323811	59323811	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaatgacctcagcagtGaatcctcttctagctcatca	11	11	8	11	0	5	3	3	3	2	1	6	4	6	3	2	0	2	2	2	0	3	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr15:59323811G>T	ENST00000557998.1	+	2	1077	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	RNF111_ENST00000561186.1_Nonsense_Mutation_p.E264*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.E264*|RNF111_ENST00000348370.4_Nonsense_Mutation_p.E264*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.E264*	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	264	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCTCAGCAGTGAATCCTCTTC	0.413																																					NSCLC(72;983 1365 10746 34387 47081)												0													127	124	125					15																	59323811		2192	4291	6483	SO:0001587	stop_gained	0			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.790G>T	15.37:g.59323811G>T	ENSP00000452732:p.Glu264*		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E264*	ENST00000557998.1	37	c.790	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	41	8.937429	0.99010	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.28	5.28	0.74379	.	0.162448	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.1579	19.2842	0.94065	0.0:0.0:1.0:0.0	.	.	.	.	X	264	.	ENSP00000288199:E264X	E	+	1	0	RNF111	57111103	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.905000	0.92613	2.629000	0.89072	0.650000	0.86243	GAA	RNF111	-	NULL	ENSG00000157450		0.413	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	0	48	0	G	NM_017610		59323811	1	tier1	-	no_errors	ENST00000434298	ensembl	human	known	74_37	nonsense	12.50	21	3	SNP	1.000	T	T	59323811	G	T	59323811	4	4	134	1	0	0	0	0	0	1	0	0	13470	1291	45	3	792	3	RNF111	15	59323811	Nonsense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09		59323811	43207581	145	34597											
ISL2	64843	genome.wustl.edu	37	chr15	76630258	76630258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtacctggacgagacgtgCacgtgcttcgtgagagacgg	9	7	15	10	5	0	3	0	1	0	2	1	6	0	4	1	2	3	3	1	2	1	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr15:76630258C>T	ENST00000290759.4	+	2	358	c.198C>T	c.(196-198)tgC>tgT	p.C66C	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	66	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						ACGAGACGTGCACGTGCTTCG	0.677																																					GBM(97;953 1391 16164 31496 36951)												0													55	40	45					15																	76630258		2197	4293	6490	SO:0001819	synonymous_variant	0			AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"Homeoboxes / LIM class"	18524	protein-coding gene	gene with protein product		609481	"ISL2 transcription factor, LIM/homeodomain, (islet-2)"				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.198C>T	15.37:g.76630258C>T			B3KM37	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.C66	ENST00000290759.4	37	c.198	CCDS10290.1	15																																																																																			ISL2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000159556		0.677	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL2	HGNC	protein_coding	OTTHUMT00000289779.1	-	0	187	0	C			76630258	1	tier1	-	no_errors	ENST00000290759	ensembl	human	known	74_37	silent	31.41	106	49	SNP	1.000	T	T	76630258	C	T	76630258	2	4	134	1	0	0	0	0	0	0	0	1	7884	718	25	3		3	ISL2	15	76630258	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	17306447	76630258	25901134	146	34598											
IREB2	3658	genome.wustl.edu	37	chr15	78758632	78758632	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcaatacagaatgcaccaAatcctggaggtggtgacctg	12	8	12	9	0	0	2	0	1	0	1	1	3	1	3	3	3	3	2	3	3	4	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr15:78758632A>T	ENST00000258886.8	+	5	579	c.430A>T	c.(430-432)Aat>Tat	p.N144Y	IREB2_ENST00000559427.1_3'UTR|IREB2_ENST00000560440.1_Missense_Mutation_p.N144Y	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	144					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)		GAATGCACCAAATCCTGGAGG	0.433																																					NSCLC(200;764 2208 35157 49871 50830)												0													48	47	47					15																	78758632		2196	4293	6489	SO:0001583	missense	0			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.430A>T	15.37:g.78758632A>T	ENSP00000258886:p.Asn144Tyr		A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.N144Y	ENST00000258886.8	37	c.430	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233779	0.79688	.	.	ENSG00000136381	ENST00000258886	T	0.19105	2.17	5.95	5.95	0.96441	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.131614	0.64402	D	0.000002	T	0.30823	0.0777	N	0.22421	0.69	0.58432	D	0.99999	D;D	0.61080	0.989;0.982	P;P	0.60236	0.832;0.871	T	0.05666	-1.0871	10	0.72032	D	0.01	-14.0108	16.4052	0.83662	1.0:0.0:0.0:0.0	.	144;144	P48200;Q8WVK6	IREB2_HUMAN;.	Y	144	ENSP00000258886:N144Y	ENSP00000258886:N144Y	N	+	1	0	IREB2	76545687	1.000000	0.71417	0.991000	0.47740	0.914000	0.54420	7.723000	0.84788	2.279000	0.76181	0.402000	0.26972	AAT	IREB2	-	superfamily_Acoase/IPM_deHydtase_lsu_aba	ENSG00000136381		0.433	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	-	0	48	0	A	NM_004136		78758632	1	tier1	-	no_errors	ENST00000258886	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.999	T	T	78758632	A	T	78758632	3	4	134	1	0	0	0	0	1	0	0	0	7853	14	1	5	448	5	IREB2	15	78758632	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09	2128374	78758632	23772760	147	34599											
FAHD1	81889	genome.wustl.edu	37	chr16	1877560	1877560	+	Silent	SNP	C	C	T	0	0	0	1	1	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	accgcccgggacgtgcaggaCgagtgcaagaagaaggggct	11	3	17	10	4	0	2	0	0	0	2	0	5	0	4	2	4	2	3	2	4	3	0	rs142676593	byFrequency	TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr16:1877560C>T	ENST00000427358.2	+	1	336	c.330C>T	c.(328-330)gaC>gaT	p.D110D	HAGH_ENST00000455446.2_5'Flank|HAGH_ENST00000397356.3_5'Flank|HAGH_ENST00000397353.2_5'Flank|FAHD1_ENST00000382666.4_Silent_p.D110D|HAGH_ENST00000566709.1_5'Flank|FAHD1_ENST00000382668.4_Silent_p.D110D	NM_031208.3	NP_112485.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	110			D -> N (in dbSNP:rs3743853).			cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetylpyruvate hydrolase activity (GO:0018773)|acylpyruvate hydrolase activity (GO:0047621)|fumarylpyruvate hydrolase activity (GO:0034545)|metal ion binding (GO:0046872)			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						ACGTGCAGGACGAGTGCAAGA	0.667																																																	0													33	32	32					16																	1877560		2199	4300	6499	SO:0001819	synonymous_variant	0			BC063017	CCDS10448.1, CCDS32367.1, CCDS45380.1	16p13.3	2011-10-21	2004-08-19	2004-08-26	ENSG00000180185	ENSG00000180185			14169	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 36"	C16orf36		21878618	Standard	NM_001018104		Approved	DKFZP566J2046	uc002cnd.3	Q6P587	OTTHUMG00000128663	ENST00000427358.2:c.330C>T	16.37:g.1877560C>T			B1AK40|B1AK41|Q6FIC7|Q96RY1|Q9H0N6	Silent	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.D110	ENST00000427358.2	37	c.330	CCDS10448.1	16																																																																																			FAHD1	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000180185		0.667	FAHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD1	HGNC	protein_coding	OTTHUMT00000250550.2	-	0	65	0	C	NM_001018104		1877560	1	tier1	-	no_errors	ENST00000382666	ensembl	human	known	74_37	silent	22.06	53	15	SNP	0.998	T	T	1877560	C	T	1877560	2	4	134	1	0	0	0	0	0	0	0	1	5391	535	19	1		1	FAHD1	16	1877560	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09		1877560	88477193	148	34600											
SNX29	92017	genome.wustl.edu	37	chr16	12293473	12293473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagagagaacgaggtgctCaaagtccaactgaagaaata	17	6	11	7	1	1	4	1	1	0	3	2	6	2	4	1	1	4	2	1	1	6	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr16:12293473C>T	ENST00000566228.1	+	14	1680	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L	SNX29_ENST00000323433.4_Silent_p.L152L|SNX29_ENST00000306030.3_Silent_p.L152L	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	537						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACGAGGTGCTCAAAGTCCAAC	0.488																																																	0													50	46	48					16																	12293473		1850	4103	5953	SO:0001819	synonymous_variant	0			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.1611C>T	16.37:g.12293473C>T			B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.L152	ENST00000566228.1	37	c.456	CCDS10553.2	16																																																																																			SNX29	-	NULL	ENSG00000048471		0.488	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	-	0	57	0	C			12293473	1	tier1	-	no_errors	ENST00000306030	ensembl	human	known	74_37	silent	32.26	42	20	SNP	1.000	T	T	12293473	C	T	12293473	2	4	134	1	0	0	0	0	0	0	0	1	14943	813	29	3		3	SNX29	16	12293473	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	10415913	12293473	78061280	149	34601											
ATXN2L	11273	genome.wustl.edu	37	chr16	28838251	28838251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacacaaagagaaggtgcttCagcgctgggaggggggtgac	12	5	17	7	1	1	2	1	1	0	1	1	4	1	3	0	5	3	2	0	5	3	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr16:28838251C>G	ENST00000336783.4	+	6	852	c.685C>G	c.(685-687)Cag>Gag	p.Q229E	ATXN2L_ENST00000395547.2_Missense_Mutation_p.Q229E|ATXN2L_ENST00000564304.1_Missense_Mutation_p.Q229E|ATXN2L_ENST00000340394.8_Missense_Mutation_p.Q229E|ATXN2L_ENST00000325215.6_Missense_Mutation_p.Q229E|ATXN2L_ENST00000382686.4_Missense_Mutation_p.Q229E|ATXN2L_ENST00000570200.1_Missense_Mutation_p.Q229E	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	229					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAAGGTGCTTCAGCGCTGGGA	0.537																																																	0													92	80	84					16																	28838251		2197	4300	6497	SO:0001583	missense	0				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.685C>G	16.37:g.28838251C>G	ENSP00000338718:p.Gln229Glu		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.Q229E	ENST00000336783.4	37	c.685	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081952	0.36758	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.47177	0.86;0.85;0.87;0.87;0.87	5.68	5.68	0.88126	.	0.171303	0.41294	D	0.000904	T	0.27731	0.0682	N	0.01576	-0.805	0.46823	D	0.999214	D;P;P;D;P;P;P;D	0.57257	0.979;0.885;0.906;0.967;0.885;0.885;0.906;0.959	P;B;P;P;B;B;P;B	0.50405	0.64;0.392;0.527;0.527;0.392;0.392;0.527;0.392	T	0.24083	-1.0170	10	0.12766	T	0.61	-10.6323	13.5152	0.61537	0.1562:0.8438:0.0:0.0	.	229;229;229;229;229;229;229;229	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	E	229	ENSP00000341459:Q229E;ENSP00000378917:Q229E;ENSP00000338718:Q229E;ENSP00000372133:Q229E;ENSP00000315650:Q229E	ENSP00000315650:Q229E	Q	+	1	0	ATXN2L	28745752	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.280000	0.51677	2.687000	0.91594	0.561000	0.74099	CAG	ATXN2L	-	NULL	ENSG00000168488		0.537	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	-	0	47	0	C	NM_007245		28838251	1	tier1	-	no_errors	ENST00000395547	ensembl	human	known	74_37	missense	44.83	32	26	SNP	1.000	G	G	28838251	C	G	28838251	3	3	134	1	0	0	0	0	1	0	0	0	1213	827	29	5	707	5	ATXN2L	16	28838251	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	16544778	28838251	61516502	150	34602											
ZNF771	51333	genome.wustl.edu	37	chr16	30429185	30429185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	agaagccgtacgcatgcgcgCactgcggccgccgcttcgcg	6	5	14	16	9	0	1	0	0	0	1	1	1	0	1	3	1	4	4	3	1	2	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr16:30429185C>T	ENST00000319296.5	+	3	828	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	ZNF771_ENST00000434417.1_Missense_Mutation_p.H151Y|ZNF771_ENST00000566625.1_Intron|SNORA42_ENST00000362917.1_RNA			Q7L3S4	ZN771_HUMAN	zinc finger protein 771	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)							Colorectal(24;0.193)			CGCATGCGCGCACTGCGGCCG	0.716																																																	0													3	3	3					16																	30429185		1717	3644	5361	SO:0001583	missense	0			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.451C>T	16.37:g.30429185C>T	ENSP00000323945:p.His151Tyr		Q8TAQ7|Q9NYI6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H151Y	ENST00000319296.5	37	c.451	CCDS45460.1	16	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835575	0.71373	.	.	ENSG00000179965	ENST00000434417;ENST00000319296	T;T	0.35973	1.28;1.28	5.02	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.704363	0.12169	N	0.493222	T	0.26159	0.0638	N	0.16567	0.415	0.19300	N	0.999977	P	0.45768	0.866	B	0.41894	0.369	T	0.10683	-1.0619	10	0.87932	D	0	-10.2513	12.206	0.54353	0.0:0.517:0.483:0.0	.	151	Q7L3S4	ZN771_HUMAN	Y	151	ENSP00000416197:H151Y;ENSP00000323945:H151Y	ENSP00000323945:H151Y	H	+	1	0	ZNF771	30336686	0.000000	0.05858	0.997000	0.53966	0.995000	0.86356	-0.389000	0.07342	1.070000	0.40811	0.491000	0.48974	CAC	ZNF771	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179965		0.716	ZNF771-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF771	HGNC	protein_coding	OTTHUMT00000434612.2		0	17	0	C	NM_016643		30429185	1			no_errors	ENST00000319296	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.379	T	T	30429185	C	T	30429185	3	4	134	1	0	0	0	0	1	0	0	0	18192	710	25	3	457	3	ZNF771	16	30429185	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	1590934	30429185	59925568	151	34603											
RTN4RL1	146760	genome.wustl.edu	37	chr17	1840984	1840984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctccgggatggctgcaaaGttgtgcgcctggcagctgac	6	8	14	13	2	0	1	0	1	0	0	1	2	1	2	3	3	3	5	3	3	1	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:1840984G>A	ENST00000331238.6	-	2	611	c.132C>T	c.(130-132)aaC>aaT	p.N44N		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGGCTGCAAAGTTGTGCGCCT	0.682																																					GBM(68;949 1139 14865 32798 38342)												0													39	48	45					17																	1840984		2150	4252	6402	SO:0001819	synonymous_variant	0			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.132C>T	17.37:g.1840984G>A				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.N44	ENST00000331238.6	37	c.132	CCDS45569.1	17																																																																																			RTN4RL1	-	NULL	ENSG00000185924		0.682	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	HGNC	protein_coding	OTTHUMT00000450155.2	-	0	60	0	G	NM_178568		1840984	-1	tier1	-	no_errors	ENST00000331238	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	A	A	1840984	G	A	1840984	2	1	134	1	0	0	0	0	0	0	0	1	13776	1020	36	3		3	RTN4RL1	17	1840984	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09		1840984	79354226	152	34604											
RAP1GAP2	23108	genome.wustl.edu	37	chr17	2930267	2930267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtccacgacctcacccttCaagcaggaggtgtttgtcta	8	10	9	14	2	3	0	2	0	1	0	4	2	4	1	4	2	1	2	4	2	2	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:2930267C>T	ENST00000254695.8	+	22	2100	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F	RAP1GAP2_ENST00000540393.2_Silent_p.F651F|RAP1GAP2_ENST00000542807.1_Silent_p.F670F|RAP1GAP2_ENST00000366401.4_Silent_p.F655F	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	670	Ser-rich.				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						CCTCACCCTTCAAGCAGGAGG	0.692																																																	0													25	30	28					17																	2930267		2142	4189	6331	SO:0001819	synonymous_variant	0			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.2010C>T	17.37:g.2930267C>T			B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.F670	ENST00000254695.8	37	c.2010	CCDS45573.1	17																																																																																			RAP1GAP2	-	NULL	ENSG00000132359		0.692	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	-	0	65	0	C			2930267	1	tier1	-	no_errors	ENST00000254695	ensembl	human	known	74_37	silent	45.65	25	21	SNP	1.000	T	T	2930267	C	T	2930267	2	4	134	1	0	0	0	0	0	0	0	1	13083	825	29	3		3	RAP1GAP2	17	2930267	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	1089283	2930267	78264943	153	34605											
TP53	7157	genome.wustl.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	GRCh37	CM971506	TP53	M	rs121913344						120	106	110					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	0	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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R306*	ENST00000269305.4	37	c.916	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA	TP53	-	NULL	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	83	0	G	NM_000546		7577022	-1	tier1	rs121913344	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	58.70	18	27	SNP	1.000	A	A	7577022	G	A	7577022	4	1	134	1	0	0	0	0	0	1	0	0	16429	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	4646755	7577022	73618188	154	34606											
ZNF287	57336	genome.wustl.edu	37	chr17	16456271	16456271	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacattcttcacattcataCgatttctctttggcatgggt	8	16	6	11	1	4	0	2	0	2	0	5	1	4	0	1	2	1	1	1	2	1	6	rs142954560		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:16456271C>T	ENST00000395824.1	-	6	1802	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S	ZNF287_ENST00000395825.3_Silent_p.S395S			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	388					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CACATTCATACGATTTCTCTT	0.413																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	181	167	172		1185	-3.6	0.3	17	dbSNP_134	172	0,8600		0,0,4300	no	coding-synonymous	ZNF287	NM_020653.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		395/762	16456271	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1185G>A	17.37:g.16456271C>T			Q6IAG1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S395	ENST00000395824.1	37	c.1185	CCDS11179.2	17																																																																																			ZNF287	-	pfscan_Znf_C2H2	ENSG00000141040		0.413	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	HGNC	protein_coding	OTTHUMT00000130504.1	-	0	60	0	C			16456271	-1	tier1	rs142954560	no_errors	ENST00000395824	ensembl	human	known	74_37	silent	26.47	25	9	SNP	0.021	T	T	16456271	C	T	16456271	2	4	134	1	0	0	0	0	0	0	0	1	17873	523	19	1		1	ZNF287	17	16456271	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	8879249	16456271	64738939	155	34607											
MPP3	4356	genome.wustl.edu	37	chr17	41888280	41888280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttatattcaccatgttccagGaacctaaaacaccaccaaag	16	9	4	12	0	1	0	1	0	0	0	2	1	2	1	5	1	2	1	5	1	6	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:41888280G>T	ENST00000398389.4	-	18	1518	c.1353C>A	c.(1351-1353)ttC>ttA	p.F451L	MPP3_ENST00000398393.1_Missense_Mutation_p.F476L	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	451	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CATGTTCCAGGAACCTAAAAC	0.463																																																	0													89	85	86					17																	41888280		1876	4098	5974	SO:0001583	missense	0				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1353C>A	17.37:g.41888280G>T	ENSP00000381425:p.Phe451Leu		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.F451L	ENST00000398389.4	37	c.1353	CCDS42344.1	17	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730127	0.48939	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.26660	1.72;1.72	5.58	4.59	0.56863	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.050061	0.85682	D	0.000000	T	0.42494	0.1205	L	0.59436	1.845	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.14531	-1.0469	10	0.54805	T	0.06	.	8.1632	0.31211	0.1722:0.0:0.8278:0.0	.	451;476	Q13368;D3DX46	MPP3_HUMAN;.	L	476;451	ENSP00000381430:F476L;ENSP00000381425:F451L	ENSP00000381425:F451L	F	-	3	2	MPP3	39243806	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	0.851000	0.27751	2.906000	0.99361	0.655000	0.94253	TTC	MPP3	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000161647		0.463	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP3	HGNC	protein_coding	OTTHUMT00000258371.1		0	29	0	G	NM_001932		41888280	-1			no_errors	ENST00000398389	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	41888280	G	T	41888280	3	4	134	1	0	0	0	0	1	0	0	0	9773	1165	41	3	416	3	MPP3	17	41888280	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	25432009	41888280	39306930	156	34608											
SAP30BP	29115	genome.wustl.edu	37	chr17	73702109	73702109	+	Frame_Shift_Del	DEL	A	A	-																															ttgagtttgtgacgggcaccAaaaaaggcaccacgaccaac																										TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:73702109delA	ENST00000584667.1	+	10	939	c.682delA	c.(682-684)aaafs	p.K229fs	SAP30BP_ENST00000355423.3_Frame_Shift_Del_p.K213fs	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACGGGCACCAAAAAAGGcac	0.572																																																	0													118	85	96					17																	73702109		2203	4300	6503	SO:0001589	frameshift_variant	0			AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.682delA	17.37:g.73702109delA	ENSP00000462116:p.Lys229fs			Frame_Shift_Del	DEL	pfam_SAP30BP	p.G230fs	ENST00000584667.1	37	c.682	CCDS11726.1	17																																																																																			SAP30BP	-	NULL	ENSG00000161526		0.572	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP30BP	HGNC	protein_coding	OTTHUMT00000448227.1		0	40	0	A	NM_013260		73702109	1	tier1		no_errors	ENST00000584667	ensembl	human	known	74_37	frame_shift_del	9.09	30	3	DEL	1.000	-	-	73702109	A	-	73702109	7	5	134	1	0	1	0	1	0	0	0	0	13879	131	5	0	720	0	SAP30BP	17	73702109	Frame_Shift_Del	DEL	A	TCGA-LN-A9FQ-01A-31D-A387-09	31813829	73702109	7493101	157	34609											
SEC14L1	6397	genome.wustl.edu	37	chr17	75186978	75186978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcgaagatggggctattCatgtcattgaaaggcgctgc	11	9	14	7	2	2	3	2	1	0	2	2	4	2	3	0	3	2	2	0	3	3	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr17:75186978C>A	ENST00000413679.2	+	4	460	c.157C>A	c.(157-159)Cat>Aat	p.H53N	SEC14L1_ENST00000436233.4_Missense_Mutation_p.H53N|SEC14L1_ENST00000585618.1_Missense_Mutation_p.H53N|SEC14L1_ENST00000443798.4_Missense_Mutation_p.H53N|SEC14L1_ENST00000431431.2_Missense_Mutation_p.H19N|SEC14L1_ENST00000392476.2_Missense_Mutation_p.H53N|SEC14L1_ENST00000591437.1_Missense_Mutation_p.H19N|SEC14L1_ENST00000430767.4_Missense_Mutation_p.H53N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	53	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGGGCTATTCATGTCATTGA	0.493																																																	0													100	93	95					17																	75186978		2203	4300	6503	SO:0001583	missense	0			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.157C>A	17.37:g.75186978C>A	ENSP00000394716:p.His53Asn		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.H53N	ENST00000413679.2	37	c.157	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447098	0.25987	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.07	5.07	0.68467	PRELI/MSF1 (2);	0.048118	0.85682	D	0.000000	T	0.26159	0.0638	M	0.73598	2.24	0.09310	N	0.999999	B;B	0.14805	0.009;0.011	B;B	0.21151	0.019;0.033	T	0.12451	-1.0547	10	0.52906	T	0.07	-41.4965	17.8013	0.88587	0.0:1.0:0.0:0.0	.	53;53	Q92503-2;Q92503	.;S14L1_HUMAN	N	53;53;53;53;53;19	ENSP00000376268:H53N;ENSP00000406030:H53N;ENSP00000390392:H53N;ENSP00000408169:H53N;ENSP00000394716:H53N;ENSP00000389838:H19N	ENSP00000376268:H53N	H	+	1	0	SEC14L1	72698573	0.369000	0.25039	0.173000	0.22940	0.530000	0.34684	2.883000	0.48554	2.516000	0.84829	0.591000	0.81541	CAT	SEC14L1	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1	ENSG00000129657		0.493	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	-	0	56	0	C	NM_003003		75186978	1	tier1	-	no_errors	ENST00000392476	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.039	A	A	75186978	C	A	75186978	3	1	134	1	0	0	0	0	1	0	0	0	14026	826	29	3	163	3	SEC14L1	17	75186978	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	1484869	75186978	6008232	158	34610											
TUBB6	84617	genome.wustl.edu	37	chr18	12310963	12310963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagaaatatgtgcccagggCcgccctggtggacttagagc	9	8	13	11	1	1	2	1	0	0	2	1	3	1	3	3	3	2	0	3	3	3	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr18:12310963C>T	ENST00000317702.5	+	3	422	c.188C>T	c.(187-189)gCc>gTc	p.A63V	TUBB6_ENST00000591208.1_Missense_Mutation_p.A63V|TUBB6_ENST00000591909.1_Missense_Mutation_p.A63V|TUBB6_ENST00000592683.1_Missense_Mutation_p.A63V|TUBB6_ENST00000590967.1_Missense_Mutation_p.A63V|TUBB6_ENST00000586653.1_Missense_Mutation_p.A63V			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	63					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GTGCCCAGGGCCGCCCTGGTG	0.522																																																	0													75	69	71					18																	12310963		2203	4300	6503	SO:0001583	missense	0			AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"Tubulins"	20776	protein-coding gene	gene with protein product	"tubulin beta MGC4083", "class V beta-tubulin"	615103	"tubulin, beta 6"			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.188C>T	18.37:g.12310963C>T	ENSP00000318697:p.Ala63Val		B3KM76|Q9HA42	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.A63V	ENST00000317702.5	37	c.188	CCDS11858.1	18	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419500	0.83559	.	.	ENSG00000176014	ENST00000317702;ENST00000445717	T	0.70631	-0.5	4.82	4.82	0.62117	Tubulin/FtsZ, GTPase domain (4);	0.111999	0.64402	D	0.000011	T	0.81484	0.4832	H	0.95079	3.62	0.80722	D	1	D	0.53462	0.96	B	0.43251	0.413	D	0.88492	0.3076	10	0.87932	D	0	.	18.063	0.89383	0.0:1.0:0.0:0.0	.	63	Q9BUF5	TBB6_HUMAN	V	63	ENSP00000318697:A63V	ENSP00000318697:A63V	A	+	2	0	TUBB6	12300963	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	7.297000	0.78799	2.661000	0.90470	0.655000	0.94253	GCC	TUBB6	-	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin	ENSG00000176014		0.522	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB6	HGNC	protein_coding	OTTHUMT00000254600.2	-	0	60	0	C	NM_032525		12310963	1	tier1	-	no_errors	ENST00000317702	ensembl	human	known	74_37	missense	66.67	15	30	SNP	1.000	T	T	12310963	C	T	12310963	3	4	134	1	0	0	0	0	1	0	0	0	16809	739	26	3	198	3	TUBB6	18	12310963	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09		12310963	65766285	159	34611											
KIAA1632	57724	genome.wustl.edu	37	chr18	43505795	43505795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaattcaataaccaatccCgaatcaccgctatctcagat	14	11	4	12	2	3	1	3	0	1	1	5	2	4	1	3	0	1	2	3	0	6	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr18:43505795C>A	ENST00000282041.5	-	14	2661	c.2627G>T	c.(2626-2628)cGg>cTg	p.R876L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	876					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						TAACCAATCCCGAATCACCGC	0.363																																																	0													123	111	115					18																	43505795		1857	4099	5956	SO:0001583	missense	0			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.2627G>T	18.37:g.43505795C>A	ENSP00000282041:p.Arg876Leu		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.R876L	ENST00000282041.5	37	c.2627	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930756	0.92389	.	.	ENSG00000152223	ENST00000282041	T	0.10668	2.85	5.47	5.47	0.80525	.	0.951132	0.08829	N	0.887620	T	0.31358	0.0794	L	0.56769	1.78	0.58432	D	0.999998	D;P	0.64830	0.994;0.946	P;P	0.59288	0.855;0.534	T	0.01743	-1.1283	10	0.52906	T	0.07	-22.6453	19.7445	0.96247	0.0:1.0:0.0:0.0	.	876;876	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	L	876	ENSP00000282041:R876L	ENSP00000282041:R876L	R	-	2	0	EPG5	41759793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.354000	0.79424	2.751000	0.94390	0.650000	0.86243	CGG	EPG5	-	NULL	ENSG00000152223		0.363	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1		0	66	0	C	NM_020964		43505795	-1			no_errors	ENST00000282041	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	43505795	C	A	43505795	3	1	134	1	0	0	0	0	1	0	0	0	8276	652	23	2	5236	2	KIAA1632	18	43505795	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	31194832	43505795	34571453	160	34612											
C18orf26	284254	genome.wustl.edu	37	chr18	52262221	52262221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagttccatatgctggtgtCtaccttcaaatgatataacc	12	13	6	10	0	2	1	1	1	1	0	3	1	3	1	3	1	3	2	3	1	5	6			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr18:52262221C>G	ENST00000321600.1	+	2	233	c.187C>G	c.(187-189)Cta>Gta	p.L63V	DYNAP_ENST00000585973.1_Intron	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	63					activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											ATGCTGGTGTCTACCTTCAAA	0.463																																																	0													200	184	189					18																	52262221		2203	4300	6503	SO:0001583	missense	0			AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 26"	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.187C>G	18.37:g.52262221C>G	ENSP00000315265:p.Leu63Val			Missense_Mutation	SNP	NULL	p.L63V	ENST00000321600.1	37	c.187	CCDS11957.1	18	.	.	.	.	.	.	.	.	.	.	.	7.285	0.609879	0.14066	.	.	ENSG00000178690	ENST00000321600	T	0.21191	2.02	4.18	-0.713	0.11223	.	0.878155	0.09490	N	0.795097	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B	0.22146	0.065	B	0.18561	0.022	T	0.38564	-0.9655	10	0.21014	T	0.42	-0.7952	4.0498	0.09790	0.0:0.4236:0.1756:0.4008	.	63	Q8N1N2	CR026_HUMAN	V	63	ENSP00000315265:L63V	ENSP00000315265:L63V	L	+	1	2	C18orf26	50413219	0.000000	0.05858	0.026000	0.17262	0.175000	0.22909	-0.108000	0.10857	-0.154000	0.11118	0.563000	0.77884	CTA	DYNAP	-	NULL	ENSG00000178690		0.463	DYNAP-001	KNOWN	basic|CCDS	protein_coding	DYNAP	HGNC	protein_coding	OTTHUMT00000256007.1		0	62	0	C	NM_173629		52262221	1			no_errors	ENST00000321600	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.029	G	G	52262221	C	G	52262221	3	3	134	1	0	0	0	0	1	0	0	0	1907	912	32	5	193	5	C18orf26	18	52262221	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	8756426	52262221	25815027	161	34613											
ALPK2	115701	genome.wustl.edu	37	chr18	56149266	56149266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagttgcctttaaatcccTtgtacctgtgagtttgggtg	8	15	10	8	0	0	1	0	1	0	0	1	1	1	1	3	1	3	3	3	1	4	6			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr18:56149266T>C	ENST00000361673.3	-	13	6515	c.6302A>G	c.(6301-6303)aAg>aGg	p.K2101R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2101	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						TTTAAATCCCTTGTACCTGTG	0.373																																																	0													139	127	131					18																	56149266		2203	4300	6503	SO:0001583	missense	0			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.6302A>G	18.37:g.56149266T>C	ENSP00000354991:p.Lys2101Arg		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.K2101R	ENST00000361673.3	37	c.6302	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686980	0.88639	.	.	ENSG00000198796	ENST00000361673	T	0.14391	2.51	5.92	4.77	0.60923	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.065534	0.64402	D	0.000013	T	0.25419	0.0618	L	0.35414	1.06	0.49687	D	0.999818	D	0.71674	0.998	D	0.81914	0.995	T	0.01130	-1.1442	10	0.66056	D	0.02	-21.0483	11.7009	0.51571	0.0:0.0695:0.0:0.9305	.	2101	Q86TB3	ALPK2_HUMAN	R	2101	ENSP00000354991:K2101R	ENSP00000354991:K2101R	K	-	2	0	ALPK2	54300246	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.911000	0.69939	1.075000	0.40932	0.459000	0.35465	AAG	ALPK2	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000198796		0.373	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	-	0	73	0	T	NM_052947		56149266	-1	tier1	-	no_errors	ENST00000361673	ensembl	human	known	74_37	missense	20.93	34	9	SNP	1.000	C	C	56149266	T	C	56149266	3	2	134	1	0	0	0	0	1	0	0	0	545	1609	56	4	214	4	ALPK2	18	56149266	Missense_Mutation	SNP	T	TCGA-LN-A9FQ-01A-31D-A387-09	3887045	56149266	21927982	162	34614											
NFIX	4784	genome.wustl.edu	37	chr19	13136057	13136057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctgcgcaaggacatcCggcccgagttccgcgaggac	9	4	13	15	5	0	0	0	0	0	0	2	4	2	2	4	3	2	3	4	3	2	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:13136057C>T	ENST00000592199.1	+	2	250	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	NFIX_ENST00000587760.1_Missense_Mutation_p.R76W|NFIX_ENST00000588228.1_Missense_Mutation_p.R37W|NFIX_ENST00000358552.3_Missense_Mutation_p.R83W|NFIX_ENST00000587260.1_Missense_Mutation_p.R83W|NFIX_ENST00000397661.2_Missense_Mutation_p.R84W|NFIX_ENST00000585575.1_Missense_Mutation_p.R76W|NFIX_ENST00000360105.4_Missense_Mutation_p.R87W			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	84					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)			CAAGGACATCCGGCCCGAGTT	0.662																																																	0													56	57	56					19																	13136057		2203	4300	6503	SO:0001583	missense	0			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.250C>T	19.37:g.13136057C>T	ENSP00000467512:p.Arg84Trp		B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.R76W	ENST00000592199.1	37	c.226		19	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441835	0.83993	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000438869;ENST00000358552	T;T	0.52057	0.68;0.73	5.26	5.26	0.73747	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.69061	0.3069	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.995;0.999;0.996	T	0.72600	-0.4244	10	0.87932	D	0	.	17.6376	0.88127	0.0:1.0:0.0:0.0	.	92;83;87;84;84	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	W	84;84;87;37;83	ENSP00000380781:R84W;ENSP00000351354:R83W	ENSP00000264825:R87W	R	+	1	2	NFIX	12997057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.998000	0.70653	2.463000	0.83235	0.655000	0.94253	CGG	NFIX	-	pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	ENSG00000008441		0.662	NFIX-013	NOVEL	basic	protein_coding	NFIX	HGNC	protein_coding	OTTHUMT00000452763.1	-	0	49	0	C	NM_002501		13136057	1	tier1	-	no_errors	ENST00000585575	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	T	T	13136057	C	T	13136057	3	4	134	1	0	0	0	0	1	0	0	0	10413	643	23	1	256	1	NFIX	19	13136057	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09		13136057	45992926	163	34615											
SF4	57794	genome.wustl.edu	37	chr19	19416842	19416842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacctcttcccagcgctgggGgtgggtgtgctgggaggggc	3	8	20	10	1	1	0	0	0	1	0	2	2	2	1	2	6	2	2	2	6	0	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:19416842G>A	ENST00000247001.5	-	4	701	c.354C>T	c.(352-354)acC>acT	p.T118T	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Silent_p.T118T	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	118					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						CAGCGCTGGGGGTGGGTGTGC	0.682																																																	0													9	11	10					19																	19416842		2110	4097	6207	SO:0001819	synonymous_variant	0			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.354C>T	19.37:g.19416842G>A			O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	NULL	p.P84S	ENST00000247001.5	37	c.250	CCDS12399.1	19																																																																																			SUGP1	-	NULL	ENSG00000105705		0.682	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUGP1	HGNC	protein_coding	OTTHUMT00000460128.4	-	0	97	0	G	NM_021164		19416842	-1	tier1	-	no_errors	ENST00000587119	ensembl	human	known	74_37	missense	45.90	66	56	SNP	0.010	A	A	19416842	G	A	19416842	2	1	134	1	0	0	0	0	0	0	0	1	14200	1219	43	3		3	SF4	19	19416842	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	6280785	19416842	39712141	164	34616											
ZNF714	148206	genome.wustl.edu	37	chr19	21300897	21300897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acataacataattcatactgGagagaaatcttacaaatgtg	18	11	6	6	0	2	1	1	0	1	1	2	3	2	2	0	1	3	0	0	1	6	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:21300897G>T	ENST00000596143.1	+	5	1752	c.1427G>T	c.(1426-1428)gGa>gTa	p.G476V	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	476					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)|urinary_tract(2)	18						ATTCATACTGGAGAGAAATCT	0.388																																																	0													55	61	59					19																	21300897		2202	4300	6502	SO:0001583	missense	0			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1427G>T	19.37:g.21300897G>T	ENSP00000472368:p.Gly476Val		Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G476V	ENST00000596143.1	37	c.1427	CCDS54239.1	19	.	.	.	.	.	.	.	.	.	.	.	10.25	1.297540	0.23650	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.05	1.05	0.20165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60818	0.2298	M	0.78285	2.405	0.48696	D	0.99969	B;B;B	0.23316	0.083;0.034;0.027	B;B;B	0.26770	0.073;0.024;0.024	T	0.61946	-0.6958	8	0.87932	D	0	.	8.9116	0.35557	0.0:0.0:1.0:0.0	.	477;476;477	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	V	476	.	ENSP00000291770:G476V	G	+	2	0	ZNF714	21092737	0.839000	0.29477	0.001000	0.08648	0.001000	0.01503	2.374000	0.44274	0.459000	0.27016	0.462000	0.41574	GGA	ZNF714	-	pfscan_Znf_C2H2	ENSG00000160352		0.388	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	HGNC	protein_coding	OTTHUMT00000463930.1	-	0	59	0	G	NM_182515		21300897	1	tier1	-	no_errors	ENST00000596143	ensembl	human	known	74_37	missense	52.08	23	25	SNP	1.000	T	T	21300897	G	T	21300897	3	4	134	1	0	0	0	0	1	0	0	0	18166	1174	41	3	1437	3	ZNF714	19	21300897	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	1884055	21300897	37828086	165	34617											
SLC7A9	11136	genome.wustl.edu	37	chr19	33355188	33355188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaggcctccatcaggtaggGatactctccccctgacttgg	7	10	11	13	0	2	1	1	1	1	0	4	2	3	2	4	4	1	2	4	4	3	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:33355188G>T	ENST00000023064.4	-	4	483	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	SLC7A9_ENST00000587772.1_Missense_Mutation_p.P98T|SLC7A9_ENST00000590341.1_Missense_Mutation_p.P98T|RN7SKP22_ENST00000365097.1_RNA	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	98					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)	ATCAGGTAGGGATACTCTCCC	0.607																																					GBM(181;1335 2108 9644 44178 46689)												0													100	83	89					19																	33355188		2203	4300	6503	SO:0001583	missense	0			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.292C>A	19.37:g.33355188G>T	ENSP00000023064:p.Pro98Thr		B2R9A6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.P98T	ENST00000023064.4	37	c.292	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604538	0.14002	.	.	ENSG00000021488	ENST00000023064	D	0.88818	-2.43	5.08	5.08	0.68730	Amino acid permease domain (1);	0.095821	0.85682	D	0.000000	D	0.84297	0.5441	L	0.28458	0.855	0.58432	D	0.999998	B	0.15719	0.014	B	0.19666	0.026	T	0.78715	-0.2096	10	0.30854	T	0.27	.	18.8383	0.92171	0.0:0.0:1.0:0.0	.	98	P82251	BAT1_HUMAN	T	98	ENSP00000023064:P98T	ENSP00000023064:P98T	P	-	1	0	SLC7A9	38047028	1.000000	0.71417	0.994000	0.49952	0.128000	0.20619	2.631000	0.46502	2.530000	0.85305	0.462000	0.41574	CCC	SLC7A9	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000021488		0.607	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	-	0	42	0	G			33355188	-1	tier1	-	no_errors	ENST00000023064	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	T	T	33355188	G	T	33355188	3	4	134	1	0	0	0	0	1	0	0	0	14750	1174	41	3	1211	3	SLC7A9	19	33355188	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	12054291	33355188	25773795	166	34618											
PRODH2	58510	genome.wustl.edu	37	chr19	36303332	36303332	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcggaggctgagggtccGcagctgctgcacgcagccct	5	7	16	13	3	0	1	0	1	0	0	2	2	1	2	2	4	4	6	2	4	0	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:36303332G>T	ENST00000301175.3	-	3	546	c.529C>A	c.(529-531)Cgg>Agg	p.R177R		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	177					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGAGGGTCCGCAGCTGCTGC	0.657																																																	0													42	44	44					19																	36303332		2203	4300	6503	SO:0001819	synonymous_variant	0			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.529C>A	19.37:g.36303332G>T				Silent	SNP	pfam_Proline_DH	p.R177	ENST00000301175.3	37	c.529	CCDS12478.1	19																																																																																			PRODH2	-	NULL	ENSG00000250799		0.657	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH2	HGNC	protein_coding	OTTHUMT00000452552.2		0	60	0	G	NM_021232		36303332	-1			no_errors	ENST00000301175	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.615	T	T	36303332	G	T	36303332	2	4	134	1	0	0	0	0	0	0	0	1	12591	1086	38	2		2	PRODH2	19	36303332	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	2948144	36303332	22825651	167	34619											
ZNF793	390927	genome.wustl.edu	37	chr19	38023300	38023300	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgtgggcttcacccaaGaggagtggcaccggctgagt	7	9	16	9	1	1	2	1	1	0	1	1	3	1	3	2	5	0	4	2	5	1	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:38023300G>T	ENST00000587143.1	+	4	293	c.58G>T	c.(58-60)Gag>Tag	p.E20*	ZNF793_ENST00000589319.1_Nonsense_Mutation_p.E20*|ZNF793_ENST00000445217.1_Nonsense_Mutation_p.E20*|ZNF793_ENST00000588578.1_Nonsense_Mutation_p.E20*|ZNF793_ENST00000542455.1_Nonsense_Mutation_p.E20*|ZNF793_ENST00000587986.1_Nonsense_Mutation_p.E20*			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	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)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTCACCCAAGAGGAGTGGCA	0.493																																					Melanoma(44;400 1431 1499 19093)												0													61	64	63					19																	38023300		2184	4297	6481	SO:0001587	stop_gained	0			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.58G>T	19.37:g.38023300G>T	ENSP00000468605:p.Glu20*		E9PGN4|Q7Z3Q9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E20*	ENST00000587143.1	37	c.58	CCDS46062.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.855924	0.97889	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	.	.	.	3.53	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	10.9039	0.47069	0.0:0.1929:0.8071:0.0	.	.	.	.	X	20;20;20;19	.	ENSP00000318811:E19X	E	+	1	0	ZNF793	42715140	0.990000	0.36364	1.000000	0.80357	0.892000	0.51952	2.038000	0.41184	0.814000	0.34374	-0.223000	0.12442	GAG	ZNF793	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000188227		0.493	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF793	HGNC	protein_coding	OTTHUMT00000458621.1	-	0	84	0	G	NM_001013659		38023300	1	tier1	-	no_errors	ENST00000445217	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	1.000	T	T	38023300	G	T	38023300	4	4	134	1	0	0	0	0	0	1	0	0	18213	943	33	3	64	3	ZNF793	19	38023300	Nonsense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	1719968	38023300	21105683	168	34620											
SPTBN4	57731	genome.wustl.edu	37	chr19	41008395	41008395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgcctcgggagggctgtgGcatctgggatattgacaagg	7	10	17	7	1	1	1	0	1	1	0	2	3	1	3	1	5	1	2	1	5	2	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:41008395G>A	ENST00000352632.3	+	10	1270	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D	SPTBN4_ENST00000598249.1_Missense_Mutation_p.G395D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.G395D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G395D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G395D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	395					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)			GAGGGCTGTGGCATCTGGGAT	0.577																																																	0													66	70	68					19																	41008395		2203	4300	6503	SO:0001583	missense	0			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.1184G>A	19.37:g.41008395G>A	ENSP00000263373:p.Gly395Asp		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.G395D	ENST00000352632.3	37	c.1184	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582517	0.46006	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.48522	0.81;0.81;0.81	3.54	3.54	0.40534	.	0.246204	0.28182	U	0.016286	T	0.42131	0.1189	L	0.39147	1.195	0.80722	D	1	P;P	0.40834	0.659;0.73	B;P	0.45712	0.268;0.491	T	0.20605	-1.0270	10	0.36615	T	0.2	.	8.9056	0.35521	0.1094:0.0:0.8906:0.0	.	395;395	Q9H254;Q71S06	SPTN4_HUMAN;.	D	395	ENSP00000263373:G395D;ENSP00000340345:G395D;ENSP00000340741:G395D	ENSP00000340345:G395D	G	+	2	0	SPTBN4	45700235	0.003000	0.15002	1.000000	0.80357	0.971000	0.66376	0.679000	0.25291	2.283000	0.76528	0.563000	0.77884	GGC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat	ENSG00000160460		0.577	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0	17	0	G			41008395	1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	A	A	41008395	G	A	41008395	3	1	134	1	0	0	0	0	1	0	0	0	15168	1203	42	3	1218	3	SPTBN4	19	41008395	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	2985095	41008395	18120588	169	34621											
ZNF234	10780	genome.wustl.edu	37	chr19	44660752	44660752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcagcccttcatattcatCaaagagtccacatgggagag	12	10	8	11	0	4	2	4	0	1	2	6	3	5	2	2	1	1	0	2	1	2	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:44660752C>G	ENST00000426739.2	+	6	841	c.583C>G	c.(583-585)Caa>Gaa	p.Q195E	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q195E	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	195					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)				TCATATTCATCAAAGAGTCCA	0.413																																																	0													147	150	149					19																	44660752		2203	4300	6503	SO:0001583	missense	0			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.583C>G	19.37:g.44660752C>G	ENSP00000400878:p.Gln195Glu		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q195E	ENST00000426739.2	37	c.583	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779838	0.49891	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.17854	2.25	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22513	0.0543	N	0.10760	0.04	0.22199	N	0.99929	D	0.58620	0.983	D	0.66602	0.945	T	0.32161	-0.9917	9	0.52906	T	0.07	.	15.8671	0.79074	0.0:1.0:0.0:0.0	.	195	Q14588	ZN234_HUMAN	E	195;24	ENSP00000400878:Q195E	ENSP00000400878:Q195E	Q	+	1	0	ZNF226	49352592	0.001000	0.12720	0.198000	0.23420	0.756000	0.42949	1.669000	0.37492	2.330000	0.79161	0.586000	0.80456	CAA	ZNF234	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000263002		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	-	0	118	0	C			44660752	1	tier1	-	no_errors	ENST00000426739	ensembl	human	known	74_37	missense	43.40	60	46	SNP	0.991	G	G	44660752	C	G	44660752	3	3	134	1	0	0	0	0	1	0	0	0	17835	827	29	5	597	5	ZNF234	19	44660752	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	3652357	44660752	14468231	170	34622											
EHD2	30846	genome.wustl.edu	37	chr19	48244236	48244236	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgcacgacatcgccaagctCatgcccctgctgcggcagga	9	5	11	16	4	1	0	1	0	0	0	2	2	1	1	3	2	4	4	3	2	1	0	rs146746938		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:48244236C>T	ENST00000263277.3	+	6	1430	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Silent_p.L257L	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	393					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)		TCGCCAAGCTCATGCCCCTGC	0.642																																																	0								C		0,4406		0,0,2203	52	49	50		1179	-5.8	1	19	dbSNP_134	50	1,8599		0,1,4299	no	coding-synonymous	EHD2	NM_014601.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		393/544	48244236	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1179C>T	19.37:g.48244236C>T			B2RDH9|B4DNU6|Q96CB6	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.L393	ENST00000263277.3	37	c.1179	CCDS12704.1	19																																																																																			EHD2	-	NULL	ENSG00000024422		0.642	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	-	0	25	0	C			48244236	1	tier1	rs146746938	no_errors	ENST00000263277	ensembl	human	known	74_37	silent	27.59	21	8	SNP	0.958	T	T	48244236	C	T	48244236	2	4	134	1	0	0	0	0	0	0	0	1	4992	813	29	3		3	EHD2	19	48244236	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	3583484	48244236	10884747	171	34623											
GRIN2D	2906	genome.wustl.edu	37	chr19	48917261	48917261	+	Missense_Mutation	SNP	A	A	G	1	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	tgggcaggtacttcatgaacAtcacgtgggataaccgggat	11	9	13	8	2	2	1	2	1	0	0	2	3	2	3	1	4	3	2	1	4	3	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:48917261A>G	ENST00000263269.3	+	4	1187	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	367					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)	CTTCATGAACATCACGTGGGA	0.587																																																	0													107	84	92					19																	48917261		2203	4300	6503	SO:0001583	missense	0			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.1099A>G	19.37:g.48917261A>G	ENSP00000263269:p.Ile367Val			Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I367V	ENST00000263269.3	37	c.1099	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	A	1.055	-0.674676	0.03378	.	.	ENSG00000105464	ENST00000263269	T	0.25912	1.77	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.10380	0.0254	N	0.11154	0.105	0.37886	D	0.930561	B	0.17268	0.021	B	0.12837	0.008	T	0.14868	-1.0457	10	0.02654	T	1	.	8.0108	0.30353	0.9022:0.0:0.0978:0.0	.	367	O15399	NMDE4_HUMAN	V	367	ENSP00000263269:I367V	ENSP00000263269:I367V	I	+	1	0	GRIN2D	53609073	0.964000	0.33143	0.999000	0.59377	0.992000	0.81027	1.923000	0.40055	1.915000	0.55452	0.459000	0.35465	ATC	GRIN2D	-	superfamily_Peripla_BP_I	ENSG00000105464		0.587	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	-	0	49	0	A			48917261	1	tier1	-	no_errors	ENST00000263269	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	G	G	48917261	A	G	48917261	3	3	134	1	0	0	0	0	1	0	0	0	6809	217	8	4	1109	4	GRIN2D	19	48917261	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09	673025	48917261	10211722	172	34624											
HSD17B14	51171	genome.wustl.edu	37	chr19	49316483	49316483	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctccgactggccttgcaCccgtaccccagctctgcacc	5	8	9	19	2	1	0	0	0	1	0	2	1	2	0	6	1	5	5	6	1	1	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:49316483C>A	ENST00000263278.4	-	9	1028	c.762G>T	c.(760-762)ggG>ggT	p.G254G	BCAT2_ENST00000601496.1_5'Flank|HSD17B14_ENST00000599157.1_Silent_p.G230G|BCAT2_ENST00000598162.1_5'Flank|BCAT2_ENST00000599246.1_5'Flank|BCAT2_ENST00000597011.1_5'Flank|BCAT2_ENST00000545387.2_5'Flank|BCAT2_ENST00000316273.6_5'Flank|BCAT2_ENST00000402551.1_5'Flank	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	254					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)		TGGCCTTGCACCCGTACCCCA	0.642																																																	0													24	24	24					19																	49316483		2203	4296	6499	SO:0001819	synonymous_variant	0			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.762G>T	19.37:g.49316483C>A			Q9UKU3	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.G254	ENST00000263278.4	37	c.762	CCDS12736.1	19																																																																																			HSD17B14	-	NULL	ENSG00000087076		0.642	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B14	HGNC	protein_coding	OTTHUMT00000466212.1	-	0	41	0	C	NM_016246		49316483	-1	tier1	-	no_errors	ENST00000263278	ensembl	human	known	74_37	silent	59.62	21	31	SNP	0.140	A	A	49316483	C	A	49316483	2	1	134	1	0	0	0	0	0	0	0	1	7410	494	18	3		3	HSD17B14	19	49316483	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	399222	49316483	9812500	173	34625											
PRRG2	5639	genome.wustl.edu	37	chr19	50086879	50086879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagccaaccactgggacctgGagctgctcacaccagggaac	11	4	12	14	0	1	0	1	0	0	0	1	4	1	3	4	3	5	2	4	3	2	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:50086879G>C	ENST00000246794.5	+	3	335	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	56	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CTGGGACCTGGAGCTGCTCAC	0.577																																																	0													99	105	103					19																	50086879		2203	4300	6503	SO:0001583	missense	0				CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.166G>C	19.37:g.50086879G>C	ENSP00000246794:p.Glu56Gln		Q6IBF8	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.E56Q	ENST00000246794.5	37	c.166	CCDS12773.1	19	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981180	0.93044	.	.	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.99567	-6.18	5.87	5.87	0.94306	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.90542	3.125	0.40902	D	0.984167	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.97972	1.0344	10	0.87932	D	0	-21.6936	15.7767	0.78228	0.0:0.0:1.0:0.0	.	33;56	F5GZ13;O14669	.;TMG2_HUMAN	Q	56;33	ENSP00000246794:E56Q	ENSP00000246794:E56Q	E	+	1	0	PRRG2	54778691	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.377000	0.79668	2.808000	0.96608	0.650000	0.86243	GAG	PRRG2	-	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	ENSG00000126460		0.577	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG2	HGNC	protein_coding	OTTHUMT00000465257.1	-	0	54	0	G	NM_000951		50086879	1	tier1	-	no_errors	ENST00000246794	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	C	C	50086879	G	C	50086879	3	2	134	1	0	0	0	0	1	0	0	0	12648	1175	41	5	172	5	PRRG2	19	50086879	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	770396	50086879	9042104	174	34626											
ZNF577	84765	genome.wustl.edu	37	chr19	52383581	52383581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgacaaatttacctcccCtgaagaactgccttgctctc	11	11	5	14	0	1	3	0	2	1	1	3	3	2	3	4	0	4	1	4	0	5	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:52383581C>G	ENST00000301399.5	-	4	420	c.55G>C	c.(55-57)Ggg>Cgg	p.G19R	ZNF577_ENST00000412216.1_Missense_Mutation_p.G19R|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.G19R|ZNF577_ENST00000451628.2_Missense_Mutation_p.G19R	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	19					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)		tttacctcccctgaagaactg	0.413																																																	0													264	242	249					19																	52383581		2203	4300	6503	SO:0001583	missense	0			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.55G>C	19.37:g.52383581C>G	ENSP00000301399:p.Gly19Arg		A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G19R	ENST00000301399.5	37	c.55	CCDS12842.2	19	.	.	.	.	.	.	.	.	.	.	.	2.076	-0.411812	0.04799	.	.	ENSG00000161551	ENST00000412216;ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390;ENST00000453272;ENST00000446514;ENST00000419138	T;T;T;T;T;T;T	0.06371	5.71;3.31;3.39;3.39;3.31;4.35;4.15	1.95	-0.525	0.11917	Krueppel-associated box (1);	.	.	.	.	T	0.03178	0.0093	N	0.11064	0.09	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.002;0.005	T	0.47971	-0.9075	9	0.20519	T	0.43	.	7.4127	0.27025	0.0:0.4576:0.5424:0.0	.	19;19	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	R	19	ENSP00000394828:G19R;ENSP00000301399:G19R;ENSP00000413476:G19R;ENSP00000389652:G19R;ENSP00000404509:G19R;ENSP00000413560:G19R;ENSP00000415307:G19R	ENSP00000301399:G19R	G	-	1	0	ZNF577	57075393	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	0.083000	0.14871	-0.055000	0.13244	0.467000	0.42956	GGG	ZNF577	-	superfamily_Krueppel-associated_box	ENSG00000161551		0.413	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF577	HGNC	protein_coding	OTTHUMT00000347243.1	-	0	56	0	C	NM_032679		52383581	-1	tier1	-	no_errors	ENST00000301399	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.000	G	G	52383581	C	G	52383581	3	3	134	1	0	0	0	0	1	0	0	0	18057	681	24	5	1418	5	ZNF577	19	52383581	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	2296702	52383581	6745402	175	34627											
ZNF331	55422	genome.wustl.edu	37	chr19	54081018	54081018	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgagcctcgtgaaacatGagagaattcataccggggtg	12	8	13	8	3	1	3	1	2	0	1	3	6	1	3	2	2	3	0	2	2	3	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr19:54081018G>T	ENST00000253144.9	+	7	2537	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	ZNF331_ENST00000449416.1_Nonsense_Mutation_p.E402*|ZNF331_ENST00000411977.2_Nonsense_Mutation_p.E402*|ZNF331_ENST00000513999.1_Nonsense_Mutation_p.E402*|ZNF331_ENST00000511154.1_Nonsense_Mutation_p.E402*|ZNF331_ENST00000512387.1_Nonsense_Mutation_p.E402*|ZNF331_ENST00000511593.2_Nonsense_Mutation_p.E402*	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	402					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)		CGTGAAACATGAGAGAATTCA	0.483			T	?	follicular thyroid adenoma																																			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													58	58	58					19																	54081018		2203	4300	6503	SO:0001587	stop_gained	0			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.1204G>T	19.37:g.54081018G>T	ENSP00000253144:p.Glu402*		Q96GJ4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E402*	ENST00000253144.9	37	c.1204	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986286	0.93044	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	.	.	.	3.77	2.73	0.32206	.	0.000000	0.35349	N	0.003269	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	4.7856	0.13223	0.1217:0.2252:0.653:0.0	.	.	.	.	X	402	.	ENSP00000253144:E402X	E	+	1	0	ZNF331	58772830	0.000000	0.05858	0.045000	0.18777	0.599000	0.36880	0.306000	0.19279	2.100000	0.63781	0.655000	0.94253	GAG	ZNF331	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130844		0.483	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	HGNC	protein_coding	OTTHUMT00000371366.1	-	0	40	0	G	NM_018555		54081018	1	tier1	-	no_errors	ENST00000253144	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	0.600	T	T	54081018	G	T	54081018	4	4	134	1	0	0	0	0	0	1	0	0	17897	1291	45	3	1214	3	ZNF331	19	54081018	Nonsense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	1697437	54081018	5047965	176	34628											
CDC25B	994	genome.wustl.edu	37	chr20	3782721	3782721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcggagcgtgacccctcctGaggagcagcaggaggctgag	8	4	18	11	2	0	3	0	3	0	0	1	6	1	6	3	5	3	3	3	5	0	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr20:3782721G>A	ENST00000245960.5	+	10	1769	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	CDC25B_ENST00000439880.2_Missense_Mutation_p.E344K|CDC25B_ENST00000344256.6_Missense_Mutation_p.E294K|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Missense_Mutation_p.E267K|CDC25B_ENST00000340833.4_Missense_Mutation_p.E317K	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	358					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GACCCCTCCTGAGGAGCAGCA	0.647																																																	0													31	27	28					20																	3782721		2184	4268	6452	SO:0001583	missense	0				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1072G>A	20.37:g.3782721G>A	ENSP00000245960:p.Glu358Lys		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.E358K	ENST00000245960.5	37	c.1072	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515924	0.27123	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	4.62	3.65	0.41850	.	0.314966	0.30329	N	0.009867	T	0.24928	0.0605	L	0.44542	1.39	0.26074	N	0.981172	P;P;P;B;P;P	0.46512	0.772;0.879;0.772;0.218;0.604;0.772	B;P;B;B;B;B	0.46796	0.428;0.527;0.428;0.047;0.22;0.403	T	0.06991	-1.0796	10	0.18710	T	0.47	.	11.369	0.49690	0.0976:0.0:0.9024:0.0	.	267;280;294;317;344;358	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	K	294;267;358;344;317	ENSP00000339125:E294K;ENSP00000368918:E267K;ENSP00000245960:E358K;ENSP00000405972:E344K;ENSP00000339170:E317K	ENSP00000245960:E358K	E	+	1	0	CDC25B	3730721	.	.	0.401000	0.26359	0.485000	0.33311	.	.	2.288000	0.76882	0.591000	0.81541	GAG	CDC25B	-	pfam_MPI_Phosphatase	ENSG00000101224		0.647	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	-	0	70	0	G	NM_021874		3782721	1	tier1	-	no_errors	ENST00000245960	ensembl	human	known	74_37	missense	47.42	51	46	SNP	0.426	A	A	3782721	G	A	3782721	3	1	134	1	0	0	0	0	1	0	0	0	3070	1291	45	3	1110	3	CDC25B	20	3782721	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09		3782721	59242799	177	34629											
PRNP	5621	genome.wustl.edu	37	chr20	4680105	4680105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggcagccccatggtggtgGctggggacagcctcatggtg	5	7	19	10	0	1	0	1	0	0	0	1	1	1	1	3	8	2	2	3	8	0	0	rs138688873		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr20:4680105G>A	ENST00000379440.4	+	2	526	c.239G>A	c.(238-240)gGc>gAc	p.G80D	PRNP_ENST00000430350.2_Missense_Mutation_p.G80D	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	11						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						CATGGTGGTGGCTGGGGACAG	0.642																																																	0													20	24	23					20																	4680105		2193	4295	6488	SO:0001583	missense	0			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.239G>A	20.37:g.4680105G>A	ENSP00000368752:p.Gly80Asp			Missense_Mutation	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion	p.G80D	ENST00000379440.4	37	c.239	CCDS13080.1	20	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816498	0.50527	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.92752	-2.89;-2.89;-3.1;-2.74	5.02	4.05	0.47172	.	0.330377	0.28176	N	0.016317	D	0.92427	0.7596	L	0.61218	1.895	0.33305	D	0.565292	P;D;B	0.55172	0.927;0.97;0.166	P;P;B	0.53224	0.543;0.721;0.124	D	0.94254	0.7496	10	0.87932	D	0	-14.0148	9.8951	0.41314	0.1002:0.0:0.8998:0.0	.	80;80;80	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	D	80;80;80;19;80	ENSP00000368752:G80D;ENSP00000399376:G80D;ENSP00000411599:G80D;ENSP00000415284:G80D	ENSP00000368752:G80D	G	+	2	0	PRNP	4628105	0.993000	0.37304	0.951000	0.38953	0.597000	0.36814	5.661000	0.68025	2.496000	0.84212	0.655000	0.94253	GGC	PRNP	-	smart_Prion,prints_Prion	ENSG00000171867		0.642	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRNP	HGNC	protein_coding	OTTHUMT00000077820.2	-	0	31	0	G	NM_000311		4680105	1	tier1	-	no_errors	ENST00000379440	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.894	A	A	4680105	G	A	4680105	3	1	134	1	0	0	0	0	1	0	0	0	12586	1203	42	3	241	3	PRNP	20	4680105	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	897384	4680105	58345415	178	34630											
DIDO1	11083	genome.wustl.edu	37	chr20	61513659	61513659	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcttccggttgaagtcGggtccgcttttcgtccatct	3	15	10	13	5	2	1	0	1	2	0	7	1	5	1	3	2	0	3	3	2	1	5			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr20:61513659G>A	ENST00000266070.4	-	16	3974	c.3649C>T	c.(3649-3651)Cga>Tga	p.R1217*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.R1217*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1217					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.R1217R(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)					GGTTGAAGTCGGGTCCGCTTT	0.502																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												1	Substitution - coding silent(1)	lung(1)											103	109	107					20																	61513659		2203	4300	6503	SO:0001587	stop_gained	0			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.3649C>T	20.37:g.61513659G>A	ENSP00000266070:p.Arg1217*		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.R1217*	ENST00000266070.4	37	c.3649	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	G	44	10.568925	0.99429	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	.	.	.	5.64	3.57	0.40892	.	0.261461	0.19582	N	0.110832	.	.	.	.	.	.	0.29620	N	0.846252	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2953	15.5718	0.76345	0.0:0.0:0.6269:0.3731	.	.	.	.	X	1217	.	ENSP00000266070:R1217X	R	-	1	2	DIDO1	60984104	1.000000	0.71417	0.273000	0.24645	0.011000	0.07611	2.939000	0.48995	1.506000	0.48736	0.563000	0.77884	CGA	DIDO1	-	NULL	ENSG00000101191		0.502	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0	98	0	G	NM_080796		61513659	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	nonsense	39.69	79	52	SNP	0.212	A	A	61513659	G	A	61513659	4	1	134	1	0	0	0	0	0	1	0	0	4536	1124	39	1	3077	1	DIDO1	20	61513659	Nonsense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	56833554	61513659	1511861	179	34631											
SON	6651	genome.wustl.edu	37	chr21	34926719	34926719	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctgccaatattgaggatAttaatgaagcagatttagtg	13	15	9	4	0	1	3	0	2	1	1	1	4	1	4	1	1	2	1	1	1	6	7			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr21:34926719A>G	ENST00000356577.4	+	3	5657	c.5182A>G	c.(5182-5184)Att>Gtt	p.I1728V	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.I1728V|SON_ENST00000381679.4_Missense_Mutation_p.I1728V|SON_ENST00000300278.4_Missense_Mutation_p.I1728V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1728					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)	p.I1728V(2)		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						TATTGAGGATATTAATGAAGC	0.433																																																	2	Substitution - Missense(2)	urinary_tract(2)											127	123	124					21																	34926719		2203	4300	6503	SO:0001583	missense	0			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.5182A>G	21.37:g.34926719A>G	ENSP00000348984:p.Ile1728Val		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom	p.I1728V	ENST00000356577.4	37	c.5182	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.14|10.14	1.268010|1.268010	0.23136|0.23136	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.14022	.|2.77;2.75;2.73;2.54	5.58|5.58	3.23|3.23	0.37069|0.37069	.|.	0.116529|0.116529	0.38959|0.38959	N|N	0.001520|0.001520	T|T	0.21509|0.21509	0.0518|0.0518	L|L	0.50333|0.50333	1.59|1.59	0.23416|0.23416	N|N	0.99772|0.99772	.|B;B;B;B;D	.|0.58620	.|0.102;0.062;0.102;0.102;0.983	.|B;B;B;B;P	.|0.57502	.|0.08;0.036;0.08;0.08;0.822	T|T	0.01863|0.01863	-1.1258|-1.1258	6|10	.|0.62326	.|D	.|0.03	.|.	7.3308|7.3308	0.26582|0.26582	0.7129:0.1537:0.0:0.1334|0.7129:0.1537:0.0:0.1334	.|.	.|1728;1728;1409;1728;1728	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	M|V	722|1728	.|ENSP00000348984:I1728V;ENSP00000290239:I1728V;ENSP00000300278:I1728V;ENSP00000371095:I1728V	.|ENSP00000290239:I1728V	I|I	+|+	3|1	3|0	SON|SON	33848589|33848589	0.925000|0.925000	0.31364|0.31364	0.997000|0.997000	0.53966|0.53966	0.837000|0.837000	0.47467|0.47467	1.191000|1.191000	0.32138|0.32138	2.127000|2.127000	0.65507|0.65507	0.482000|0.482000	0.46254|0.46254	ATA|ATT	SON	-	NULL	ENSG00000159140		0.433	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	-	0	74	0	A	NM_138927		34926719	1	tier1	-	no_errors	ENST00000356577	ensembl	human	known	74_37	missense	63.64	16	28	SNP	0.757	G	G	34926719	A	G	34926719	3	3	134	1	0	0	0	0	1	0	0	0	14971	449	16	4	5192	4	SON	21	34926719	Missense_Mutation	SNP	A	TCGA-LN-A9FQ-01A-31D-A387-09		34926719	13203176	180	34632											
COL18A1	80781	genome.wustl.edu	37	chr21	46930153	46930153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgccgtgccgaccgcgcagCcgtgcccatcgtcaacctca	6	5	11	19	7	2	0	2	0	0	0	3	1	2	0	6	0	4	1	6	0	1	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr21:46930153C>T	ENST00000359759.4	+	39	4937	c.4916C>T	c.(4915-4917)gCc>gTc	p.A1639V	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.A1224V|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000355480.5_Missense_Mutation_p.A1404V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1639	Nonhelical region 11 (NC11).				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)		GACCGCGCAGCCGTGCCCATC	0.716																																																	0													9	11	10					21																	46930153		2041	4161	6202	SO:0001583	missense	0				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.4916C>T	21.37:g.46930153C>T	ENSP00000352798:p.Ala1639Val		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.A1639V	ENST00000359759.4	37	c.4916		21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.25|10.25	1.299042|1.299042	0.23650|0.23650	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220|ENST00000423214	T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93|.	4.7|4.7	-1.65|-1.65	0.08291|0.08291	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);|.	1.841150|.	0.03170|.	N|.	0.170533|.	T|T	0.23330|0.23330	0.0564|0.0564	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B;B|.	0.13145|.	0.007;0.0;0.005;0.005|.	B;B;B;B|.	0.06405|.	0.002;0.0;0.001;0.001|.	T|T	0.29610|0.29610	-1.0006|-1.0006	10|5	0.40728|.	T|.	0.16|.	.|.	4.8226|4.8226	0.13398|0.13398	0.1624:0.4191:0.3346:0.0839|0.1624:0.4191:0.3346:0.0839	.|.	1639;1221;1404;1224|.	P39060;D3DSM4;P39060-1;P39060-2|.	COIA1_HUMAN;.;.;.|.	V|S	1224;1224;1404;1639;1639;572|209	ENSP00000383191:A1224V;ENSP00000347665:A1404V;ENSP00000352798:A1639V;ENSP00000339118:A572V|.	ENSP00000339118:A572V|.	A|P	+|+	2|1	0|0	COL18A1|COL18A1	45754581|45754581	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-1.706000|-1.706000	0.01895|0.01895	-0.191000|-0.191000	0.10448|0.10448	-0.140000|-0.140000	0.14226|0.14226	GCC|CCG	COL18A1	-	pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold	ENSG00000182871		0.716	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	-	0	52	0	C			46930153	1	tier1	-	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.000	T	T	46930153	C	T	46930153	3	4	134	1	0	0	0	0	1	0	0	0	3682	739	26	3	5179	3	COL18A1	21	46930153	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	12003434	46930153	1199742	181	34633											
LZTR1	8216	genome.wustl.edu	37	chr22	21346071	21346071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagctgcactgctatgacGtggacttccagacctgggag	9	8	13	11	2	0	2	0	1	0	1	1	5	1	4	2	2	3	3	2	2	1	2	rs370315661		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr22:21346071G>A	ENST00000215739.8	+	9	1305	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	LZTR1_ENST00000389355.3_Missense_Mutation_p.V297M|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	316					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTGCTATGACGTGGACTTCCA	0.642													G|||	1	0.000199681	8e-04	0	5008	,	,		18950	0		0	False		,,,				2504	0																0								G	MET/VAL	1,4303		0,1,2151	45	36	39		946	5.1	1	22		39	0,8474		0,0,4237	no	missense	LZTR1	NM_006767.3	21	0,1,6388	AA,AG,GG		0.0,0.0232,0.0078	probably-damaging	316/841	21346071	1,12777	2152	4237	6389	SO:0001583	missense	0			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.946G>A	22.37:g.21346071G>A	ENSP00000215739:p.Val316Met		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.V316M	ENST00000215739.8	37	c.946	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745089	0.89663	2.32E-4	0.0	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.78364	-1.17;-1.17	5.09	5.09	0.68999	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	N	0.21583	0.68	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.999;1.0	D;D;D;D	0.72338	0.947;0.952;0.957;0.977	T	0.80271	-0.1452	10	0.38643	T	0.18	-33.7518	15.9929	0.80220	0.0:0.0:1.0:0.0	.	297;275;316;275	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	M	275;316;297	ENSP00000215739:V316M;ENSP00000374006:V297M	ENSP00000215739:V316M	V	+	1	0	LZTR1	19676071	1.000000	0.71417	0.976000	0.42696	0.916000	0.54674	9.396000	0.97270	2.363000	0.80096	0.462000	0.41574	GTG	LZTR1	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1	ENSG00000099949		0.642	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0	58	0	G	NM_006767		21346071	1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.999	A	A	21346071	G	A	21346071	3	1	134	1	0	0	0	0	1	0	0	0	9173	1145	40	1	980	1	LZTR1	22	21346071	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09		21346071	29958495	182	34634											
BCR	613	genome.wustl.edu	37	chr22	23610673	23610673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctgagaagtgctgtcagGccaatgctcagtttgcagaa	10	10	13	8	0	2	2	2	1	0	2	2	3	2	2	1	2	3	5	1	2	3	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr22:23610673G>A	ENST00000305877.8	+	5	2582	c.1831G>A	c.(1831-1833)Gcc>Acc	p.A611T	BCR_ENST00000359540.3_Missense_Mutation_p.A611T	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	611	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)	GTGCTGTCAGGCCAATGCTCA	0.577			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													128	101	110					22																	23610673		2203	4300	6503	SO:0001583	missense	0				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.1831G>A	22.37:g.23610673G>A	ENSP00000303507:p.Ala611Thr		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.A611T	ENST00000305877.8	37	c.1831	CCDS13806.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.749221	0.96882	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149	T;T	0.62941	-0.01;-0.01	5.49	5.49	0.81192	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	L	0.37750	1.13	0.80722	D	1	B;P;P	0.42123	0.418;0.729;0.771	B;P;P	0.51550	0.224;0.544;0.673	T	0.64567	-0.6377	10	0.44086	T	0.13	.	18.7448	0.91788	0.0:0.0:1.0:0.0	.	200;611;611	B4E065;P11274-2;P11274	.;.;BCR_HUMAN	T	611;611;276	ENSP00000303507:A611T;ENSP00000352535:A611T	ENSP00000303507:A611T	A	+	1	0	BCR	21940673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.412000	0.66392	2.761000	0.94854	0.655000	0.94253	GCC	BCR	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000186716		0.577	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1		0	27	0	G	NM_004327		23610673	1			no_errors	ENST00000305877	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	23610673	G	A	23610673	3	1	134	1	0	0	0	0	1	0	0	0	1389	1203	42	3	1849	3	BCR	22	23610673	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	2264602	23610673	27693893	183	34635											
APOL3	80833	genome.wustl.edu	37	chr22	36537873	36537873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatgatgccagaggcagcgCcagtggagctggacaccaca	12	4	13	12	1	0	2	0	1	0	1	0	4	0	4	3	3	3	2	3	3	0	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr22:36537873C>G	ENST00000349314.2	-	3	621	c.584G>C	c.(583-585)gGc>gCc	p.G195A	APOL3_ENST00000397293.2_Missense_Mutation_p.G124A|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000361710.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	195					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						AGAGGCAGCGCCAGTGGAGCT	0.552																																																	0													94	86	89					22																	36537873		2203	4300	6503	SO:0001583	missense	0			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.584G>C	22.37:g.36537873C>G	ENSP00000344577:p.Gly195Ala		B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	pfam_ApoL	p.G195A	ENST00000349314.2	37	c.584	CCDS13922.1	22	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121715	0.56613	.	.	ENSG00000128284	ENST00000397293;ENST00000349314	T;T	0.03982	3.74;3.74	4.3	3.25	0.37280	.	0.222718	0.47093	D	0.000246	T	0.10680	0.0261	L	0.38692	1.165	0.58432	D	0.999999	D;D	0.57257	0.979;0.974	P;P	0.60473	0.875;0.874	T	0.05716	-1.0868	10	0.51188	T	0.08	.	12.1038	0.53801	0.0:0.8248:0.1752:0.0	.	195;124	O95236;O95236-2	APOL3_HUMAN;.	A	124;195	ENSP00000380461:G124A;ENSP00000344577:G195A	ENSP00000344577:G195A	G	-	2	0	APOL3	34867819	0.001000	0.12720	0.001000	0.08648	0.046000	0.14306	1.419000	0.34793	1.137000	0.42214	0.478000	0.44815	GGC	APOL3	-	pfam_ApoL	ENSG00000128284		0.552	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APOL3	HGNC	protein_coding	OTTHUMT00000319268.1	-	0	22	0	C	NM_145641		36537873	-1	tier1	-	no_errors	ENST00000349314	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.038	G	G	36537873	C	G	36537873	3	3	134	1	0	0	0	0	1	0	0	0	807	739	26	5	628	5	APOL3	22	36537873	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	12927200	36537873	14766693	184	34636											
PLXNB2	23654	genome.wustl.edu	37	chr22	50716282	50716282	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggtgtggagcctcacCtgttcgtcttccagatgtgg	4	12	16	9	1	2	1	1	0	1	1	4	2	3	2	3	4	1	1	3	4	0	2			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chr22:50716282C>T	ENST00000449103.1	-	32	5188	c.5048G>A	c.(5047-5049)aGc>aAc	p.S1683N	PLXNB2_ENST00000359337.4_Splice_Site_p.S1683N			O15031	PLXB2_HUMAN	plexin B2	1683					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)		GGAGCCTCACCTGTTCGTCTT	0.637																																																	0													67	81	77					22																	50716282		2150	4260	6410	SO:0001630	splice_region_variant	0				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.5048+1G>A	22.37:g.50716282C>T			A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.S1683N	ENST00000449103.1	37	c.5048	CCDS43035.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.558650|4.558650	0.86231|0.86231	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000399991|ENST00000449103;ENST00000359337;ENST00000399964	.|T;T	.|0.18016	.|2.24;2.24	4.38|4.38	4.38|4.38	0.52667|0.52667	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50222|0.50222	0.1603|0.1603	M|M	0.90198|0.90198	3.095|3.095	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.62329|0.62329	-0.6877|-0.6877	5|9	.|.	.|.	.|.	.|.	17.1139|17.1139	0.86683|0.86683	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1683	.|O15031	.|PLXB2_HUMAN	T|N	154|1683;1683;313	.|ENSP00000409171:S1683N;ENSP00000352288:S1683N	.|.	A|S	-|-	1|2	0|0	PLXNB2|PLXNB2	49058409|49058409	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.505000|0.505000	0.33919|0.33919	5.611000|5.611000	0.67674|0.67674	2.254000|2.254000	0.74563|0.74563	0.491000|0.491000	0.48974|0.48974	GCT|AGC	PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.637	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0	52	0	C	NM_012401	Missense_Mutation	50716282	-1			no_errors	ENST00000359337	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	50716282	C	T	50716282	5	4	134	1	0	0	0	0	0	0	1	0	12163	695	24	3	492	3	PLXNB2	22	50716282	Splice_Site	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	14178409	50716282	588284	185	34637											
GYG2	8908	genome.wustl.edu	37	chrX	2777906	2777906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttccagtgcaaaggtcGtccactttttggggtccatg	6	13	12	10	2	0	0	0	0	0	0	5	0	3	0	3	4	1	2	3	4	1	3	rs148243530		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:2777906G>A	ENST00000381163.3	+	8	1012	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	GYG2_ENST00000338623.5_Missense_Mutation_p.V244I|GYG2_ENST00000542787.1_Missense_Mutation_p.V244I|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Missense_Mutation_p.V213I	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	244					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCAAAGGTCGTCCACTTTTT	0.507																																																	0													67	56	59					X																	2777906		2203	4298	6501	SO:0001583	missense	0			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4700	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.730G>A	X.37:g.2777906G>A	ENSP00000370555:p.Val244Ile		B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.V244I	ENST00000381163.3	37	c.730	CCDS14121.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.629898|2.629898	0.46944|0.46944	.|.	.|.	ENSG00000056998|ENSG00000056998	ENST00000381157|ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787	.|T;T;T;T	.|0.37235	.|1.21;1.21;1.21;1.21	3.73|3.73	3.73|3.73	0.42828|0.42828	.|.	.|0.000000	.|0.51477	.|D	.|0.000095	T|T	0.43322|0.43322	0.1242|0.1242	L|L	0.35593|0.35593	1.075|1.075	0.42929|0.42929	D|D	0.994319|0.994319	.|P;D;P;P;D;D	.|0.58620	.|0.83;0.983;0.851;0.859;0.965;0.972	.|B;P;B;B;P;P	.|0.57960	.|0.217;0.606;0.089;0.324;0.606;0.83	T|T	0.40831|0.40831	-0.9542|-0.9542	5|10	.|0.46703	.|T	.|0.11	.|.	14.936|14.936	0.70954|0.70954	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|244;244;204;213;213;244	.|O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.|.;.;.;.;.;GLYG2_HUMAN	H|I	62|213;244;244;244	.|ENSP00000381786:V213I;ENSP00000370555:V244I;ENSP00000341273:V244I;ENSP00000446092:V244I	.|ENSP00000341273:V244I	R|V	+|+	2|1	0|0	GYG2|GYG2	2787906|2787906	1.000000|1.000000	0.71417|0.71417	0.300000|0.300000	0.25030|0.25030	0.046000|0.046000	0.14306|0.14306	4.082000|4.082000	0.57635|0.57635	1.500000|1.500000	0.48636|0.48636	0.529000|0.529000	0.55759|0.55759	CGT|GTC	GYG2	-	pfam_Glyco_trans_8	ENSG00000056998		0.507	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	-	0	72	0	G	NM_003918		2777906	1	tier1	-	no_errors	ENST00000381163	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.999	A	A	2777906	G	A	2777906	3	1	134	1	0	0	0	0	1	0	0	0	6933	1145	40	1	756	1	GYG2	23	2777906	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09		2777906	152492654	186	34638											
ZRSR2	8233	genome.wustl.edu	37	chrX	15817995	15817995	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaacatttaaattccctagGactctcacagaaggaggaag	17	8	8	8	0	1	1	1	0	1	1	3	4	2	4	1	3	1	0	1	3	7	4			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:15817995G>T	ENST00000307771.7	+	3	146	c.122G>T	c.(121-123)gGa>gTa	p.G41V	ZRSR2_ENST00000380308.3_Splice_Site_p.G41V|ZRSR2_ENST00000468028.1_3'UTR	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	41					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)					AATTCCCTAGGACTCTCACAG	0.333			"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													76	67	70					X																	15817995		2203	4300	6503	SO:0001630	splice_region_variant	0			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.122-1G>T	X.37:g.15817995G>T			Q14D69	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small	p.G41V	ENST00000307771.7	37	c.122	CCDS14172.1	X	.	.	.	.	.	.	.	.	.	.	G	7.053	0.564890	0.13498	.	.	ENSG00000169249	ENST00000307771;ENST00000380308	T;T	0.22336	1.96;5.02	4.96	1.38	0.22167	.	0.416010	0.28225	N	0.016140	T	0.27489	0.0675	M	0.72479	2.2	0.41352	D	0.987376	D	0.54601	0.967	P	0.49683	0.619	T	0.02424	-1.1161	9	.	.	.	.	6.7138	0.23292	0.416:0.0:0.584:0.0	.	41	Q15696	U2AFM_HUMAN	V	41	ENSP00000303015:G41V;ENSP00000369664:G41V	.	G	+	2	0	ZRSR2	15727916	1.000000	0.71417	0.664000	0.29753	0.422000	0.31414	1.334000	0.33827	-0.082000	0.12640	-0.191000	0.12829	GGA	ZRSR2	-	NULL	ENSG00000169249		0.333	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRSR2	HGNC	protein_coding	OTTHUMT00000055889.1		0	122	0	G	NM_005089	Missense_Mutation	15817995	1			no_errors	ENST00000307771	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.701	T	T	15817995	G	T	15817995	5	4	134	1	0	0	0	0	0	0	1	0	18273	1188	41	3	132	3	ZRSR2	23	15817995	Splice_Site	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	13040089	15817995	139452565	187	34639											
FTHL17	53940	genome.wustl.edu	37	chrX	31090038	31090038	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgcagttggtgtcgtacttCtggcgcacctgcgacggctg	4	11	14	12	5	1	0	0	0	1	0	3	1	1	0	1	3	2	5	1	3	1	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:31090038C>T	ENST00000359202.3	-	1	132	c.33G>A	c.(31-33)caG>caA	p.Q11Q		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	11	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TGTCGTACTTCTGGCGCACCT	0.647																																																	0													45	37	40					X																	31090038		2193	4286	6479	SO:0001819	synonymous_variant	0			AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.33G>A	X.37:g.31090038C>T			Q6NT24|Q6NTE2	Silent	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.Q11	ENST00000359202.3	37	c.33	CCDS14227.1	X																																																																																			FTHL17	-	superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	ENSG00000132446		0.647	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTHL17	HGNC	protein_coding	OTTHUMT00000056178.1	-	0	14	0	C	NM_031894		31090038	-1	tier1	-	no_errors	ENST00000359202	ensembl	human	known	74_37	silent	54.55	5	6	SNP	0.987	T	T	31090038	C	T	31090038	2	4	134	1	0	0	0	0	0	0	0	1	6107	912	32	3		3	FTHL17	23	31090038	Silent	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	15272043	31090038	124180522	188	34640											
UBQLN2	29978	genome.wustl.edu	37	chrX	56591895	56591895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccccctggctccaccggctCtggtggccccacggggccta	3	6	12	20	2	1	0	0	0	1	0	2	0	2	0	8	6	0	2	8	6	1	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:56591895C>G	ENST00000338222.5	+	1	1870	c.1589C>G	c.(1588-1590)tCt>tGt	p.S530C		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	530					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						TCCACCGGCTCTGGTGGCCCC	0.612																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0													9	10	9					X																	56591895		2177	4261	6438	SO:0001583	missense	0			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.1589C>G	X.37:g.56591895C>G	ENSP00000345195:p.Ser530Cys		O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.S530C	ENST00000338222.5	37	c.1589	CCDS14374.1	X	.	.	.	.	.	.	.	.	.	.	C	8.758	0.922885	0.18056	.	.	ENSG00000188021	ENST00000338222	D	0.85955	-2.05	4.18	4.18	0.49190	.	0.287960	0.23291	N	0.049794	T	0.76863	0.4047	N	0.24115	0.695	0.28156	N	0.929201	B	0.23442	0.085	B	0.30943	0.122	T	0.71606	-0.4542	10	0.56958	D	0.05	-0.8127	10.8125	0.46555	0.0:1.0:0.0:0.0	.	530	Q9UHD9	UBQL2_HUMAN	C	530	ENSP00000345195:S530C	ENSP00000345195:S530C	S	+	2	0	UBQLN2	56608620	0.983000	0.35010	0.991000	0.47740	0.872000	0.50106	3.858000	0.55979	2.316000	0.78162	0.594000	0.82650	TCT	UBQLN2	-	NULL	ENSG00000188021		0.612	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	HGNC	protein_coding	OTTHUMT00000056891.1	-	0	37	0	C	NM_013444		56591895	1	tier1	-	no_errors	ENST00000338222	ensembl	human	known	74_37	missense	65.00	7	13	SNP	0.930	G	G	56591895	C	G	56591895	3	3	134	1	0	0	0	0	1	0	0	0	16946	913	32	5	1591	5	UBQLN2	23	56591895	Missense_Mutation	SNP	C	TCGA-LN-A9FQ-01A-31D-A387-09	25501857	56591895	98678665	189	34641											
ZC3H12B	340554	genome.wustl.edu	37	chrX	64709053	64709053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggctatgcagaggaacaGattcaatcagtgctaaacaa	15	8	10	8	0	2	2	2	0	0	2	2	3	2	3	0	2	4	3	0	2	6	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:64709053G>A	ENST00000338957.4	+	1	439	c.372G>A	c.(370-372)caG>caA	p.Q124Q	ZC3H12B_ENST00000423889.3_Silent_p.Q113Q	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	124							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGAGGAACAGATTCAATCAG	0.448																																																	0													97	95	96					X																	64709053		1973	4143	6116	SO:0001819	synonymous_variant	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.372G>A	X.37:g.64709053G>A			B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	pfam_RNase_Zc3h12	p.Q124	ENST00000338957.4	37	c.372	CCDS48131.2	X																																																																																			ZC3H12B	-	NULL	ENSG00000102053		0.448	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	-	0	16	0	G	XM_293334		64709053	1	tier1	-	no_errors	ENST00000338957	ensembl	human	known	74_37	silent	81.82	2	9	SNP	1.000	A	A	64709053	G	A	64709053	2	1	134	1	0	0	0	0	0	0	0	1	17610	933	33	3		3	ZC3H12B	23	64709053	Silent	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	8117158	64709053	90561507	190	34642											
THOC2	57187	genome.wustl.edu	37	chrX	122765573	122765573	+	Frame_Shift_Del	DEL	A	A	-																															catacattggcctagacaggAaaaatgctgcatcatggggt																										TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:122765573delA	ENST00000245838.8	-	22	2478	c.2447delT	c.(2446-2448)ttcfs	p.F816fs	THOC2_ENST00000491737.1_Frame_Shift_Del_p.F701fs|THOC2_ENST00000355725.4_Frame_Shift_Del_p.F816fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	816					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						CCTAGACAGGAAAAATGCTGC	0.378																																																	0													182	169	173					X																	122765573		1883	4103	5986	SO:0001589	frameshift_variant	0			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.2447delT	X.37:g.122765573delA	ENSP00000245838:p.Phe816fs		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Frame_Shift_Del	DEL	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.F816fs	ENST00000245838.8	37	c.2447	CCDS43988.1	X																																																																																			THOC2	-	NULL	ENSG00000125676		0.378	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3		0	45	0	A			122765573	-1	tier1		no_errors	ENST00000245838	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	1.000	-	-	122765573	A	-	122765573	7	5	134	1	0	1	0	1	0	0	0	0	15912	246	9	0	2402	0	THOC2	23	122765573	Frame_Shift_Del	DEL	A	TCGA-LN-A9FQ-01A-31D-A387-09	58056520	122765573	32504987	191	34643											
CD40LG	959	genome.wustl.edu	37	chrX	135738563	135738563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcataagtgaggccagcaGtaaaacaacatctggtaagt	15	9	10	7	0	2	1	1	1	1	0	2	1	2	1	1	2	3	3	1	2	5	3			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:135738563G>A	ENST00000370629.2	+	4	451	c.395G>A	c.(394-396)aGt>aAt	p.S132N	CD40LG_ENST00000370628.2_Intron	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	132					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					GAGGCCAGCAGTAAAACAACA	0.458									Immune Deficiency with Hyper-IgM																																								0													162	133	143					X																	135738563		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11935	protein-coding gene	gene with protein product	"CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome"	300386	"tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.395G>A	X.37:g.135738563G>A	ENSP00000359663:p.Ser132Asn			Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5	p.S132N	ENST00000370629.2	37	c.395	CCDS14659.1	X	.	.	.	.	.	.	.	.	.	.	G	5.742	0.321339	0.10845	.	.	ENSG00000102245	ENST00000370629	D	0.97959	-4.63	5.56	4.69	0.59074	Tumour necrosis factor (2);Tumour necrosis factor-like (2);	0.339448	0.31760	N	0.007119	D	0.91626	0.7354	N	0.11201	0.11	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.87102	0.2179	10	0.19590	T	0.45	.	8.3031	0.32025	0.1064:0.0:0.8936:0.0	.	132	P29965	CD40L_HUMAN	N	132	ENSP00000359663:S132N	ENSP00000359663:S132N	S	+	2	0	CD40LG	135566229	0.923000	0.31300	0.929000	0.37066	0.835000	0.47333	1.232000	0.32636	2.331000	0.79229	0.600000	0.82982	AGT	CD40LG	-	superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom	ENSG00000102245		0.458	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	HGNC	protein_coding	OTTHUMT00000058501.1		0	23	0	G	NM_000074		135738563	1			no_errors	ENST00000370629	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.790	A	A	135738563	G	A	135738563	3	1	134	1	0	0	0	0	1	0	0	0	3023	1029	36	3	409	3	CD40LG	23	135738563	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	12972990	135738563	19531997	192	34644											
HAUS7	11219	genome.wustl.edu	37	chrX	152721028	152721028	+	De_novo_Start_OutOfFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtcagattctggtgcGtggcctggatgatggggccg	7	9	18	7	2	2	2	1	1	1	1	2	4	2	4	2	6	1	0	2	6	1	1	rs201262645		TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:152721028G>A	ENST00000334497.2	-	0	931				HAUS7_ENST00000370212.3_Missense_Mutation_p.T311M|TREX2_ENST00000330912.2_De_novo_Start_InFrame|HAUS7_ENST00000370211.4_Missense_Mutation_p.T311M|HAUS7_ENST00000421080.2_Missense_Mutation_p.R133C|TREX2_ENST00000370232.1_De_novo_Start_OutOfFrame|TREX2_ENST00000338525.2_De_novo_Start_OutOfFrame|HAUS7_ENST00000484394.1_5'UTR			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2						DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTCTGGTGCGTGGCCTGGAT	0.607								Editing and processing nucleases																																									0													93	70	78					X																	152721028		2203	4298	6501			0			AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.-211C>T	X.37:g.152721028G>A			Q45F08|Q9UN77	Missense_Mutation	SNP	NULL	p.T311M	ENST00000334497.2	37	c.932		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.38|13.38	2.220968|2.220968	0.39201|0.39201	.|.	.|.	ENSG00000213397|ENSG00000213397	ENST00000435662;ENST00000421080|ENST00000370211;ENST00000370219;ENST00000370212	.|T;T;T	.|0.24350	.|1.86;1.86;1.86	4.99|4.99	3.84|3.84	0.44239|0.44239	.|.	.|0.199239	.|0.40818	.|N	.|0.001004	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|D;D	.|0.64830	.|0.957;0.994	.|B;P	.|0.45913	.|0.381;0.497	T|T	0.06534|0.06534	-1.0821|-1.0821	6|10	0.87932|0.87932	D|D	0|0	-26.6999|-26.6999	6.3655|6.3655	0.21453|0.21453	0.8811:0.0:0.1189:0.0|0.8811:0.0:0.1189:0.0	.|.	.|311;311	.|Q99871;Q99871-2	.|HAUS7_HUMAN;.	C|M	95;133|301;311;311	.|ENSP00000359230:T301M;ENSP00000359239:T311M;ENSP00000359231:T311M	ENSP00000395447:R133C|ENSP00000359230:T301M	R|T	-|-	1|2	0|0	HAUS7|HAUS7	152374222|152374222	0.031000|0.031000	0.19500|0.19500	0.012000|0.012000	0.15200|0.15200	0.617000|0.617000	0.37484|0.37484	1.943000|1.943000	0.40253|0.40253	0.695000|0.695000	0.31675|0.31675	0.292000|0.292000	0.19580|0.19580	CGC|ACG	HAUS7	-	NULL	ENSG00000213397		0.607	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	HAUS7	HGNC	protein_coding	OTTHUMT00000060966.1	-	0	43	0	G	NM_080701		152721028	-1	tier1	rs201262645	no_errors	ENST00000370212	ensembl	human	known	74_37	missense	72.92	12	35	SNP	0.052	A	A	152721028	G	A	152721028	1	1	134	1	0	1	0	0	0	0	0	0	6998	1145	40	1		1	HAUS7	23	152721028	De_novo_Start_OutOfFrame	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	16982465	152721028	2549532	193	34645											
ATP2B3	492	genome.wustl.edu	37	chrX	152818513	152818513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaccaacatcttgaacaGcaatggcgaactccggggct	11	7	11	12	2	1	1	0	1	1	0	2	2	2	1	2	3	5	3	2	3	4	1			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:152818513G>T	ENST00000349466.2	+	12	2170	c.1844G>T	c.(1843-1845)aGc>aTc	p.S615I	ATP2B3_ENST00000393842.1_Missense_Mutation_p.S601I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.S615I|ATP2B3_ENST00000263519.4_Missense_Mutation_p.S615I|ATP2B3_ENST00000370186.1_Missense_Mutation_p.S601I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.S601I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	615					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)					ATCTTGAACAGCAATGGCGAA	0.607																																																	0													66	61	63					X																	152818513		2203	4300	6503	SO:0001583	missense	0			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.1844G>T	X.37:g.152818513G>T	ENSP00000343886:p.Ser615Ile		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.S615I	ENST00000349466.2	37	c.1844	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	G	9.117	1.007952	0.19199	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	5.44	3.67	0.42095	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.247012	0.47455	D	0.000229	D	0.90532	0.7033	L	0.28274	0.84	0.22521	N	0.999026	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.003	T	0.81665	-0.0830	10	0.51188	T	0.08	-29.4312	10.3093	0.43699	0.1679:0.0:0.8321:0.0	.	615;615	Q16720;Q16720-2	AT2B3_HUMAN;.	I	601;615;601;615;615;601	ENSP00000359205:S601I;ENSP00000343886:S615I;ENSP00000377425:S601I;ENSP00000352062:S615I;ENSP00000263519:S615I;ENSP00000359200:S601I	ENSP00000263519:S615I	S	+	2	0	ATP2B3	152471707	0.000000	0.05858	0.818000	0.32626	0.299000	0.27559	-0.560000	0.05964	0.482000	0.27582	0.600000	0.82982	AGC	ATP2B3	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000067842		0.607	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	-	0	26	0	G	NM_021949		152818513	1	tier1	-	no_errors	ENST00000263519	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.349	T	T	152818513	G	T	152818513	3	4	134	1	0	0	0	0	1	0	0	0	1142	971	34	3	1886	3	ATP2B3	23	152818513	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	97485	152818513	2452047	194	34646											
CTAG2	30848	genome.wustl.edu	37	chrX	153881746	153881746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggcctcctgggccatcaGcatcgcccgtcgaaccccct	6	6	10	19	3	1	0	1	0	0	0	4	1	2	0	6	2	2	1	6	2	1	0			TCGA-LN-A9FQ-01A-31D-A387-09	TCGA-LN-A9FQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68f76d9c-f426-44b4-a781-81fa01060390	cfe2b919-5fec-4566-81b7-4395c55c003f	g.chrX:153881746G>A	ENST00000247306.4	-	1	107	c.44C>T	c.(43-45)gCt>gTt	p.A15V	CTAG2_ENST00000369585.3_Missense_Mutation_p.A15V	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	15	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCCATCAGCATCGCCCGT	0.721																																																	0													4	9	8					X																	153881746		1148	3646	4794	SO:0001583	missense	0			AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"CTL-recognized antigen on melanoma", "LAGE-1a protein", "cancer/testis antigen family 6, member 2a", "cancer/testis antigen family 6, member 2b"	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.44C>T	X.37:g.153881746G>A	ENSP00000247306:p.Ala15Val		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	pfam_EKC/KEOPS_Pcc1	p.A15V	ENST00000247306.4	37	c.44	CCDS14759.1	X	.	.	.	.	.	.	.	.	.	.	g	10.83	1.461492	0.26248	.	.	ENSG00000126890	ENST00000247306;ENST00000369585	T;T	0.31247	1.5;1.58	2.5	-0.472	0.12115	.	.	.	.	.	T	0.14356	0.0347	N	0.19112	0.55	0.09310	N	1	B;P	0.40332	0.384;0.713	B;B	0.33339	0.078;0.162	T	0.14035	-1.0487	9	0.87932	D	0	.	3.2557	0.06831	0.4322:0.2151:0.3527:0.0	.	15;15	O75638;O75638-2	CTAG2_HUMAN;.	V	15	ENSP00000247306:A15V;ENSP00000358598:A15V	ENSP00000247306:A15V	A	-	2	0	CTAG2	153534940	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.677000	0.05215	-0.230000	0.09840	-0.491000	0.04670	GCT	CTAG2	-	NULL	ENSG00000126890		0.721	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	CTAG2	HGNC	protein_coding	OTTHUMT00000061176.1	-	0	25	0	G	NM_020994		153881746	-1	tier1	-	no_errors	ENST00000369585	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.000	A	A	153881746	G	A	153881746	3	1	134	1	0	0	0	0	1	0	0	0	4000	971	34	3	735	3	CTAG2	23	153881746	Missense_Mutation	SNP	G	TCGA-LN-A9FQ-01A-31D-A387-09	1063233	153881746	1388814	195	34647											
CCDC30	728621	genome.wustl.edu	37	chr1	43002201	43002201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaagtgagtggtcaaaaGagagagagagagagaagcag	18	5	16	2	0	1	6	1	2	0	4	1	10	1	6	0	1	1	1	0	1	4	1	rs372826618		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:43002201G>A	ENST00000340612.4	+	1	46	c.46G>A	c.(46-48)Gag>Aag	p.E16K	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.E16K|CCDC30_ENST00000428554.2_Missense_Mutation_p.E16K			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	16						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTGGTCAAAAGAGAGAGAGAG	0.358																																																	0													97	95	96					1																	43002201		2203	4300	6503	SO:0001583	missense	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.46G>A	1.37:g.43002201G>A	ENSP00000340378:p.Glu16Lys		Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.E16K	ENST00000340612.4	37	c.46	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961791	0.53400	.	.	ENSG00000186409	ENST00000428554;ENST00000340612;ENST00000445157;ENST00000342022	T;T;T	0.54479	0.57;0.57;0.57	5.5	4.59	0.56863	.	0.190511	0.42420	D	0.000716	T	0.47154	0.1430	L	0.55481	1.735	0.80722	D	1	P	0.40107	0.703	B	0.40101	0.319	T	0.39143	-0.9628	10	0.27082	T	0.32	.	10.5783	0.45240	0.0898:0.0:0.9102:0.0	.	16	Q5VVM6	CCD30_HUMAN	K	16	ENSP00000397035:E16K;ENSP00000340378:E16K;ENSP00000339280:E16K	ENSP00000340378:E16K	E	+	1	0	CCDC30	42774788	1.000000	0.71417	0.987000	0.45799	0.121000	0.20230	4.754000	0.62191	1.462000	0.47948	-0.192000	0.12808	GAG	CCDC30	-	NULL	ENSG00000186409		0.358	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3		0	41	0	G	NM_025030		43002201	1			no_errors	ENST00000340612	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.998	A	A	43002201	G	A	43002201	3	1	135	1	0	0	0	0	1	0	0	0	2812	943	33	3	48	3	CCDC30	1	43002201	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09		43002201	206248420	1	34648											
NRD1	4898	genome.wustl.edu	37	chr1	52302076	52302076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ttcaccctgctgctcctccgCttgccatcctgccaaatgct	5	12	6	18	1	1	0	1	0	0	0	4	0	4	0	6	0	5	4	6	0	1	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:52302076C>T	ENST00000354831.7	-	4	988	c.799G>A	c.(799-801)Gcg>Acg	p.A267T	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.A135T|NRD1_ENST00000544028.1_Intron|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000352171.7_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0					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						TGCTCCTCCGCTTGCCATCCT	0.463																																																	0													36	36	36					1																	52302076		2202	4300	6502	SO:0001583	missense	0			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.799G>A	1.37:g.52302076C>T	ENSP00000346890:p.Ala267Thr		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.A267T	ENST00000354831.7	37	c.799	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192012	0.38707	.	.	ENSG00000078618	ENST00000354831;ENST00000539524	T;T	0.29655	1.57;1.56	6.08	5.16	0.70880	.	0.706882	0.12930	N	0.427403	T	0.18718	0.0449	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.05209	-1.0899	10	0.34782	T	0.22	0.3237	13.0389	0.58887	0.0:0.8224:0.1776:0.0	.	267	B1AKJ5	.	T	267;135	ENSP00000346890:A267T;ENSP00000444416:A135T	ENSP00000346890:A267T	A	-	1	0	NRD1	52074664	1.000000	0.71417	0.976000	0.42696	0.726000	0.41606	1.126000	0.31344	1.554000	0.49487	0.655000	0.94253	GCG	NRD1	-	superfamily_Metalloenz_LuxS/M16	ENSG00000078618		0.463	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1		0	30	0	C	NM_002525		52302076	-1			no_errors	ENST00000354831	ensembl	human	known	74_37	missense	13.64	18	3	SNP	0.988	T	T	52302076	C	T	52302076	3	4	135	1	0	0	0	0	1	0	0	0	10684	797	28	3	2980	3	NRD1	1	52302076	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	9299875	52302076	196948545	2	34649											
ZNF644	84146	genome.wustl.edu	37	chr1	91406514	91406514	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttaatgaaacactgccttTattcatattggaagtcttag	12	15	8	6	0	2	1	1	1	1	0	2	2	2	2	1	2	2	1	1	2	6	7			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:91406514T>C	ENST00000370440.1	-	3	614	c.397A>G	c.(397-399)Aaa>Gaa	p.K133E	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.K133E|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	133					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)		ACACTGCCTTTATTCATATTG	0.423																																																	0													81	78	79					1																	91406514		2203	4300	6503	SO:0001583	missense	0			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.397A>G	1.37:g.91406514T>C	ENSP00000359469:p.Lys133Glu		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K133E	ENST00000370440.1	37	c.397	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619808	0.28801	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00608	6.25;6.25	5.91	4.79	0.61399	.	0.129731	0.53938	N	0.000051	T	0.00178	0.0005	N	0.11560	0.145	0.40406	D	0.979701	B	0.11235	0.004	B	0.09377	0.004	T	0.57642	-0.7776	10	0.30078	T	0.28	-11.5737	11.1952	0.48709	0.0:0.0724:0.0:0.9276	.	133	Q9H582	ZN644_HUMAN	E	133	ENSP00000359469:K133E;ENSP00000337008:K133E	ENSP00000337008:K133E	K	-	1	0	ZNF644	91179102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.584000	0.67490	1.076000	0.40961	0.533000	0.62120	AAA	ZNF644	-	NULL	ENSG00000122482		0.423	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	-	0	31	0	T	NM_032186		91406514	-1	tier1	-	no_errors	ENST00000337393	ensembl	human	known	74_37	missense	55.56	4	5	SNP	1.000	C	C	91406514	T	C	91406514	3	2	135	1	0	0	0	0	1	0	0	0	18108	1763	61	4	3602	4	ZNF644	1	91406514	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	39104438	91406514	157844107	3	34650											
HIST2H3D	653604	genome.wustl.edu	37	chr1	149785084	149785084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttctggtagcgccggatCtcccgcagagccacggtgcc	6	7	13	15	4	2	1	0	0	2	1	3	3	2	2	4	3	3	2	4	3	1	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:149785084C>G	ENST00000331491.1	-	1	152	c.153G>C	c.(151-153)gaG>gaC	p.E51D	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	51					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGCGCCGGATCTCCCGCAGAG	0.682																																																	0													20	23	22					1																	149785084		1561	3573	5134	SO:0001583	missense	0			AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"Histones / Replication-dependent"	25311	protein-coding gene	gene with protein product			"histone 2, H3d"				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.153G>C	1.37:g.149785084C>G	ENSP00000333277:p.Glu51Asp		A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E51D	ENST00000331491.1	37	c.153	CCDS41388.1	1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625116	0.46840	.	.	ENSG00000183598	ENST00000331491	T	0.57273	0.41	4.1	3.18	0.36537	.	0.000000	0.53938	U	0.000046	T	0.52354	0.1729	.	.	.	0.48395	D	0.999646	.	.	.	.	.	.	T	0.59408	-0.7460	7	0.87932	D	0	.	10.8809	0.46937	0.0:0.905:0.0:0.095	.	.	.	.	D	51	ENSP00000333277:E51D	ENSP00000333277:E51D	E	-	3	2	HIST2H3D	148051708	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.016000	0.40971	1.080000	0.41073	0.436000	0.28706	GAG	HIST2H3D	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000183598		0.682	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H3D	HGNC	protein_coding	OTTHUMT00000033452.1	-	0	106	0	C	NM_001123375		149785084	-1	tier1	-	no_errors	ENST00000331491	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	G	G	149785084	C	G	149785084	3	3	135	1	0	0	0	0	1	0	0	0	7208	912	32	5	259	5	HIST2H3D	1	149785084	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	58378570	149785084	99465537	4	34651											
FLG	2312	genome.wustl.edu	37	chr1	152277995	152277995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaatgctcgtggtggtaccCctgccttcctcctctgcttg	3	13	10	15	2	1	0	0	0	1	0	4	1	3	0	5	2	4	3	5	2	2	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:152277995C>A	ENST00000368799.1	-	3	9402	c.9367G>T	c.(9367-9369)Ggg>Tgg	p.G3123W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3123	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)			TGGTGGTACCCCTGCCTTCCT	0.607									Ichthyosis																																								0													88	125	113					1																	152277995		2191	4286	6477	SO:0001583	missense	0	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.9367G>T	1.37:g.152277995C>A	ENSP00000357789:p.Gly3123Trp		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G3123W	ENST00000368799.1	37	c.9367	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	9.668	1.145889	0.21288	.	.	ENSG00000143631	ENST00000368799	T	0.01745	4.66	3.66	-3.45	0.04781	.	.	.	.	.	T	0.02688	0.0081	M	0.79805	2.47	0.09310	N	1	D	0.76494	0.999	D	0.63957	0.92	T	0.16719	-1.0393	9	0.87932	D	0	.	6.1659	0.20390	0.0:0.3714:0.4383:0.1903	.	3123	P20930	FILA_HUMAN	W	3123	ENSP00000357789:G3123W	ENSP00000357789:G3123W	G	-	1	0	FLG	150544619	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.738000	0.04871	-0.499000	0.06623	0.449000	0.29647	GGG	FLG	-	NULL	ENSG00000143631		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	60	0	C	NM_002016		152277995	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.000	A	A	152277995	C	A	152277995	3	1	135	1	0	0	0	0	1	0	0	0	5944	623	22	3	2822	3	FLG	1	152277995	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	2492911	152277995	96972626	5	34652											
S100A8	6279	genome.wustl.edu	37	chr1	153362902	153362902	+	Missense_Mutation	SNP	A	A	G	1	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	gaggacactcggtctctagcAatttcttcaggtcatccctg	8	12	9	12	1	4	0	2	0	2	0	7	2	5	1	1	3	1	1	1	3	2	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:153362902A>G	ENST00000368733.3	-	2	279	c.110T>C	c.(109-111)tTg>tCg	p.L37S	S100A8_ENST00000368732.1_Missense_Mutation_p.L37S|S100A8_ENST00000477801.1_5'UTR	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	37	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	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)			GGTCTCTAGCAATTTCTTCAG	0.572																																																	0													148	149	149					1																	153362902		2203	4300	6503	SO:0001583	missense	0			BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"S100 calcium binding proteins", "EF-hand domain containing"	10498	protein-coding gene	gene with protein product		123885	"S100 calcium-binding protein A8 (calgranulin A)", "S100 calcium binding protein A8 (calgranulin A)"	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.110T>C	1.37:g.153362902A>G	ENSP00000357722:p.Leu37Ser		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.L37S	ENST00000368733.3	37	c.110	CCDS1038.1	1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.971957	0.53614	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.36340	1.26;1.26	4.17	4.17	0.49024	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.071699	0.64402	D	0.000020	T	0.44244	0.1284	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.25606	-1.0127	9	0.87932	D	0	.	9.9034	0.41362	1.0:0.0:0.0:0.0	.	37	P05109	S10A8_HUMAN	S	37	ENSP00000357722:L37S;ENSP00000357721:L37S	ENSP00000357721:L37S	L	-	2	0	S100A8	151629526	0.025000	0.19082	0.021000	0.16686	0.076000	0.17211	3.950000	0.56676	2.121000	0.65114	0.528000	0.53228	TTG	S100A8	-	pfam_S100_Ca-bd_sub	ENSG00000143546		0.572	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A8	HGNC	protein_coding	OTTHUMT00000036791.1	-	0	51	0	A	NM_002964		153362902	-1	tier1	-	no_errors	ENST00000368732	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.023	G	G	153362902	A	G	153362902	3	3	135	1	0	0	0	0	1	0	0	0	13831	131	5	4	179	4	S100A8	1	153362902	Missense_Mutation	SNP	A	TCGA-LN-A9FR-01A-11D-A387-09	1084907	153362902	95887719	6	34653											
GON4L	54856	genome.wustl.edu	37	chr1	155733171	155733171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaagtaggaggcttctcaGcagagtctccaactgcttca	12	9	9	11	0	3	1	2	0	2	1	5	2	3	2	1	2	3	4	1	2	4	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:155733171G>T	ENST00000368331.1	-	22	4706	c.4658C>A	c.(4657-4659)gCt>gAt	p.A1553D	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.A1553D|GON4L_ENST00000271883.5_Missense_Mutation_p.A1553D	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1553	Glu-rich.				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)					AGGCTTCTCAGCAGAGTCTCC	0.498																																																	0													49	51	50					1																	155733171		1977	4174	6151	SO:0001583	missense	0			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.4658C>A	1.37:g.155733171G>T	ENSP00000357315:p.Ala1553Asp		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.A1553D	ENST00000368331.1	37	c.4658		1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824106	0.71143	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.11063	2.81;2.81;2.81	4.63	2.75	0.32379	.	0.524413	0.18914	N	0.127667	T	0.06462	0.0166	L	0.47716	1.5	0.09310	N	1	P;P;D	0.54601	0.947;0.945;0.967	P;P;P	0.52454	0.544;0.503;0.699	T	0.28235	-1.0050	10	0.24483	T	0.36	.	9.7383	0.40401	0.1721:0.0:0.8279:0.0	.	749;1553;1553	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	D	1553	ENSP00000396117:A1553D;ENSP00000357315:A1553D;ENSP00000271883:A1553D	ENSP00000271883:A1553D	A	-	2	0	GON4L	153999795	0.141000	0.22595	0.031000	0.17742	0.479000	0.33129	2.695000	0.47043	0.679000	0.31345	0.561000	0.74099	GCT	GON4L	-	NULL	ENSG00000116580		0.498	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0	101	0	G	NM_032292		155733171	-1	tier1	-	no_errors	ENST00000368331	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.061	T	T	155733171	G	T	155733171	3	4	135	1	0	0	0	0	1	0	0	0	6598	971	34	3	2108	3	GON4L	1	155733171	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	2370269	155733171	93517450	7	34654											
GON4L	54856	genome.wustl.edu	37	chr1	155753864	155753864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcttccatgttggagaatCccatctcatcttggaactgt	9	14	7	11	0	3	1	1	0	3	1	6	3	5	2	2	2	1	1	2	2	2	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:155753864C>A	ENST00000368331.1	-	14	1853	c.1805G>T	c.(1804-1806)gGa>gTa	p.G602V	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.G602V|GON4L_ENST00000271883.5_Missense_Mutation_p.G602V|GON4L_ENST00000361040.5_Missense_Mutation_p.G602V	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	602					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)					GTTGGAGAATCCCATCTCATC	0.498																																																	0													147	118	128					1																	155753864		2203	4299	6502	SO:0001583	missense	0			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.1805G>T	1.37:g.155753864C>A	ENSP00000357315:p.Gly602Val		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.G602V	ENST00000368331.1	37	c.1805		1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236084	0.79800	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.14266	2.7;2.7;2.7;2.52	4.57	4.57	0.56435	.	0.135280	0.49305	D	0.000149	T	0.26738	0.0654	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	0.97110	1.0;1.0;1.0;0.999;0.999	T	0.01468	-1.1347	10	0.59425	D	0.04	.	17.4967	0.87719	0.0:1.0:0.0:0.0	.	382;602;602;602;602	Q6PHZ4;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	V	602;602;602;602;602;81	ENSP00000396117:G602V;ENSP00000357315:G602V;ENSP00000271883:G602V;ENSP00000354322:G602V	ENSP00000271883:G602V	G	-	2	0	GON4L	154020488	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	3.708000	0.54845	2.534000	0.85438	0.591000	0.81541	GGA	GON4L	-	NULL	ENSG00000116580		0.498	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding			0	108	0	C	NM_032292		155753864	-1			no_errors	ENST00000368331	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	155753864	C	A	155753864	3	1	135	1	0	0	0	0	1	0	0	0	6598	855	30	3	5110	3	GON4L	1	155753864	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	20693	155753864	93496757	8	34655											
CD1C	911	genome.wustl.edu	37	chr1	158262114	158262114	+	Missense_Mutation	SNP	T	T	C	0	1	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	cacttgcccccgatttctctTgggtctcctggatgcaggga	5	12	11	13	1	2	0	0	0	2	0	4	3	2	2	3	3	2	1	3	3	0	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:158262114T>C	ENST00000368170.3	+	3	848	c.569T>C	c.(568-570)tTg>tCg	p.L190S		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	190					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)					CGATTTCTCTTGGGTCTCCTG	0.448																																																	0													276	278	277					1																	158262114		2203	4300	6503	SO:0001583	missense	0			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.569T>C	1.37:g.158262114T>C	ENSP00000357152:p.Leu190Ser		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L190S	ENST00000368170.3	37	c.569	CCDS1175.1	1	.	.	.	.	.	.	.	.	.	.	-	9.250	1.040504	0.19669	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.07567	3.18	3.36	3.36	0.38483	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.600221	0.12643	N	0.451130	T	0.02688	0.0081	L	0.54908	1.71	0.09310	N	1	P	0.42827	0.791	B	0.31869	0.137	T	0.36504	-0.9745	10	0.36615	T	0.2	.	8.5093	0.33206	0.0:0.0:0.0:1.0	.	190	P29017	CD1C_HUMAN	S	190	ENSP00000357152:L190S	ENSP00000357151:L190S	L	+	2	0	CD1C	156528738	0.000000	0.05858	0.218000	0.23776	0.088000	0.18126	-0.061000	0.11693	1.779000	0.52309	0.524000	0.50904	TTG	CD1C	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158481		0.448	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1C	HGNC	protein_coding	OTTHUMT00000046351.2	-	0	49	0	T	NM_001765		158262114	1	tier1	-	no_errors	ENST00000368170	ensembl	human	known	74_37	missense	43.33	17	13	SNP	0.284	C	C	158262114	T	C	158262114	3	2	135	1	0	0	0	0	1	0	0	0	2983	1821	63	4	579	4	CD1C	1	158262114	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	2508250	158262114	90988507	9	34656											
HSPA6	3310	genome.wustl.edu	37	chr1	161495860	161495860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatccctcctgccccacGtggagtcccccagatagagg	7	7	11	16	1	0	2	0	0	0	2	3	3	3	3	6	3	1	1	6	3	1	1	rs41299256	byFrequency	TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:161495860G>A	ENST00000309758.4	+	1	1825	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	471			R -> H (in dbSNP:rs41299256). {ECO:0000269|Ref.2}.		ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCTGCCCCACGTGGAGTCCCC	0.552													G|||	7	0.00139776	8e-04	0.0014	5008	,	,		20013	0		0	False		,,,				2504	0.0051																0								G	HIS/ARG	0,4406		0,0,2203	74	72	73		1412	1.4	1	1	dbSNP_127	73	1,8599		0,1,4299	no	missense	HSPA6	NM_002155.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	471/644	161495860	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1412G>A	1.37:g.161495860G>A	ENSP00000310219:p.Arg471His		Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R471H	ENST00000309758.4	37	c.1412	CCDS1231.1	1	.	.	.	.	.	.	.	.	.	.	.	17.25	3.341972	0.61073	0.0	1.16E-4	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01139	5.28	3.3	1.37	0.22104	.	0.184742	0.26166	N	0.025948	T	0.04634	0.0126	H	0.98155	4.16	0.37414	D	0.913372	D	0.76494	0.999	D	0.63597	0.916	T	0.01178	-1.1427	10	0.87932	D	0	.	6.6759	0.23093	0.2488:0.0:0.7512:0.0	rs41299256;rs59667356	471	P17066	HSP76_HUMAN	H	471;447	ENSP00000310219:R471H	ENSP00000310219:R471H	R	+	2	0	HSPA6	159762484	0.968000	0.33430	0.978000	0.43139	0.990000	0.78478	5.523000	0.67099	0.115000	0.18071	0.591000	0.81541	CGT	HSPA6	-	pfam_Hsp_70_fam	ENSG00000173110		0.552	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1	-	0	57	0	G	NM_002155		161495860	1	tier1	rs41299256	no_errors	ENST00000309758	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.989	A	A	161495860	G	A	161495860	3	1	135	1	0	0	0	0	1	0	0	0	7442	1145	40	1	1414	1	HSPA6	1	161495860	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	3233746	161495860	87754761	10	34657											
RYR2	6262	genome.wustl.edu	37	chr1	237811850	237811850	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggattgaggttcaagacttCctcctccatcttcttgaggt	7	14	10	10	0	3	3	1	2	2	1	6	4	6	4	3	3	0	1	3	3	1	5			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:237811850C>T	ENST00000366574.2	+	49	7766	c.7449C>T	c.(7447-7449)ttC>ttT	p.F2483F	RYR2_ENST00000542537.1_Silent_p.F2467F|RYR2_ENST00000360064.6_Silent_p.F2481F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2483	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCAAGACTTCCTCCTCCATC	0.512																																																	0													109	99	102					1																	237811850		1932	4137	6069	SO:0001819	synonymous_variant	0			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.7449C>T	1.37:g.237811850C>T			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.F2481	ENST00000366574.2	37	c.7443	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0	87	0	C	NM_001035		237811850	1			no_errors	ENST00000360064	ensembl	human	known	74_37	silent	10.00	27	3	SNP	1.000	T	T	237811850	C	T	237811850	2	4	135	1	0	0	0	0	0	0	0	1	13814	854	30	3		3	RYR2	1	237811850	Silent	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	76315990	237811850	11438771	11	34658											
KIF26B	55083	genome.wustl.edu	37	chr1	245850135	245850135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcagctcctggctgagcGagatgagcgcgggcagtgag	8	6	16	11	3	1	4	1	3	0	1	2	5	2	4	2	2	3	3	2	2	0	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:245850135G>A	ENST00000407071.2	+	12	4290	c.3850G>A	c.(3850-3852)Gag>Aag	p.E1284K	KIF26B_ENST00000366518.4_Missense_Mutation_p.E903K	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1284					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)			CTGGCTGAGCGAGATGAGCGC	0.612																																																	0													35	41	39					1																	245850135		2134	4226	6360	SO:0001583	missense	0			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.3850G>A	1.37:g.245850135G>A	ENSP00000385545:p.Glu1284Lys		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1284K	ENST00000407071.2	37	c.3850	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519897	0.85495	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.82167	-1.58;-1.58	5.92	5.92	0.95590	.	.	.	.	.	D	0.85771	0.5774	M	0.79475	2.455	0.58432	D	0.999998	D;D	0.52996	0.957;0.957	B;B	0.43155	0.337;0.41	D	0.87696	0.2557	9	0.72032	D	0.01	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	903;1284	B7WPD9;Q2KJY2	.;KI26B_HUMAN	K	1284;903;900	ENSP00000385545:E1284K;ENSP00000355475:E903K	ENSP00000355475:E903K	E	+	1	0	KIF26B	243916758	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.855000	0.99526	2.813000	0.96785	0.561000	0.74099	GAG	KIF26B	-	NULL	ENSG00000162849		0.612	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0	31	0	G	XM_371354		245850135	1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	A	A	245850135	G	A	245850135	3	1	135	1	0	0	0	0	1	0	0	0	8322	1059	37	1	3896	1	KIF26B	1	245850135	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	8038285	245850135	3400486	12	34659											
OR2W5	441932	genome.wustl.edu	37	chr1	247655201	247655201	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctacggaaccatcatctaCgtgtacctgaagccggccaa	11	9	8	13	3	3	1	1	1	2	0	3	2	3	2	4	2	5	1	4	2	6	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:247655201C>T	ENST00000522351.1	+	0	832							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCATCATCTACGTGTACCTGA	0.532																																																	0													133	116	122					1																	247655201		2203	4300	6503			0					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655201C>T			B9EH85	RNA	SNP	-	NULL	ENST00000522351.1	37	NULL		1																																																																																			OR2W5	-	-	ENSG00000203664		0.532	OR2W5-002	KNOWN	basic	processed_transcript	OR2W5	HGNC	pseudogene	OTTHUMT00000375789.1	-	0	50	0	C	NM_001004698		247655201	1	tier1	-	no_errors	ENST00000522351	ensembl	human	known	74_37	rna	32.35	23	11	SNP	0.469	T	T	247655201	C	T	247655201	1	4	135	0	1	0	0	0	0	0	0	0	11073	536	19	1		1	OR2W5	1	247655201	RNA	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	1805066	247655201	1595420	13	34660											
SOX11	6664	genome.wustl.edu	37	chr2	5833526	5833528	+	In_Frame_Del	DEL	GAC	GAC	-																															agtgcgtgtttctggatgagGacgacgacgacgacgacgac																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	GAC	GAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:5833526_5833528delGAC	ENST00000322002.3	+	1	728_730	c.673_675delGAC	c.(673-675)gacdel	p.D233del	AC108025.2_ENST00000453678.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	233	Poly-Asp.				cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTGGATGAGgacgacgacgacg	0.7																																																	0										5,289,3358		0,0,5,14,261,1546						-1.6	1			10	5,655,6658		0,0,5,23,609,3022	no	codingComplex	SOX11	NM_003108.3		0,0,10,37,870,4568	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0189,8.0504,8.6964				10,944,10016				SO:0001651	inframe_deletion	0				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.673_675delGAC	2.37:g.5833535_5833537delGAC	ENSP00000322568:p.Asp233del		Q4ZFV8	In_Frame_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.D228in_frame_del	ENST00000322002.3	37	c.673_675	CCDS1654.1	2																																																																																			SOX11	-	pirsf_SOX-12/11/4a	ENSG00000176887		0.7	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1		0	26	0	GAC	NM_003108		5833528	1	tier1		no_errors	ENST00000322002	ensembl	human	known	74_37	in_frame_del	28.57	10	4	DEL	1.000:1.000:0.999	-	-	5833528	GAC	-	5833526	7	5	135	1	0	1	0	1	0	0	0	0	14987	1174	41	0	675	0	SOX11	2	5833526	In_Frame_Del	DEL	GAC	TCGA-LN-A9FR-01A-11D-A387-09		5833526	237365847	14	34661											
CAD	790	genome.wustl.edu	37	chr2	27456547	27456547	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgtggtgcgcccctcCtatgtgctgagcggtgctgc	2	11	14	14	2	0	1	0	1	0	0	1	1	1	1	4	2	5	2	4	2	1	1	rs148549402		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:27456547C>T	ENST00000403525.1	+	20	3225	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	CAD_ENST00000264705.4_Silent_p.S1090S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGCCCCTCCTATGTGCTGA	0.602																																																	0													68	70	69					2																	27456547		2203	4300	6503	SO:0001819	synonymous_variant	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3081C>T	2.37:g.27456547C>T			O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.S1090	ENST00000403525.1	37	c.3270		2																																																																																			CAD	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.602	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1		0	24	0	C			27456547	1			no_errors	ENST00000264705	ensembl	human	known	74_37	silent	23.08	10	3	SNP	1.000	T	T	27456547	C	T	27456547	2	4	135	1	0	0	0	0	0	0	0	1	2572	668	24	3		3	CAD	2	27456547	Silent	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	21623021	27456547	215742826	15	34662											
VPS54	51542	genome.wustl.edu	37	chr2	64189243	64189243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagaacctcttgtgttgttGctattaagtccaatgctcca	9	15	8	9	0	1	1	0	0	1	1	3	1	3	1	3	0	3	5	3	0	5	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:64189243G>T	ENST00000272322.4	-	7	1113	c.959C>A	c.(958-960)gCa>gAa	p.A320E	VPS54_ENST00000409558.4_Missense_Mutation_p.A308E|VPS54_ENST00000354504.3_Missense_Mutation_p.A203E			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	320					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						TTGTGTTGTTGCTATTAAGTC	0.378																																																	0													126	124	125					2																	64189243		2203	4300	6503	SO:0001583	missense	0			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.959C>A	2.37:g.64189243G>T	ENSP00000272322:p.Ala320Glu		Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	pfam_Vps54,pfam_Vacuolar_sorting-assoc_54	p.A320E	ENST00000272322.4	37	c.959	CCDS33208.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111885	0.77210	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.27256	1.7;1.68;1.69	5.65	5.65	0.86999	Vacuolar protein sorting-associated protein 54 (1);	0.100539	0.64402	D	0.000003	T	0.21186	0.0510	L	0.31926	0.97	0.80722	D	1	B;P;P	0.36483	0.02;0.555;0.499	B;B;B	0.37451	0.03;0.25;0.161	T	0.02358	-1.1171	10	0.02654	T	1	.	19.7279	0.96172	0.0:0.0:1.0:0.0	.	203;320;308	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	E	203;320;308;308;320	ENSP00000346499:A203E;ENSP00000272322:A320E;ENSP00000386980:A308E	ENSP00000272322:A320E	A	-	2	0	VPS54	64042747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.659000	0.90383	0.561000	0.74099	GCA	VPS54	-	pfam_Vacuolar_sorting-assoc_54	ENSG00000143952		0.378	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS54	HGNC	protein_coding	OTTHUMT00000327062.2		0	102	0	G	NM_016516		64189243	-1			no_errors	ENST00000272322	ensembl	human	known	74_37	missense	5.08	55	3	SNP	1.000	T	T	64189243	G	T	64189243	3	4	135	1	0	0	0	0	1	0	0	0	17265	1319	46	3	2042	3	VPS54	2	64189243	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	36732696	64189243	179010130	16	34663											
MEIS1	4211	genome.wustl.edu	37	chr2	66739317	66739317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	cagtgtagcttcccccagcaCaggtgacgatgatgaccctg	9	8	11	13	1	0	3	0	3	0	0	1	4	1	3	3	1	2	3	3	1	1	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:66739317C>T	ENST00000272369.9	+	8	1236	c.779C>T	c.(778-780)aCa>aTa	p.T260I	MEIS1_ENST00000560281.2_Missense_Mutation_p.T260I|MEIS1_ENST00000407092.2_Missense_Mutation_p.T260I|MEIS1_ENST00000495021.2_Missense_Mutation_p.T195I|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000398506.2_Missense_Mutation_p.T258I|MEIS1_ENST00000488550.1_Missense_Mutation_p.T260I	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	260	Asp/Glu-rich (acidic).				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						TCCCCCAGCACAGGTGACGAT	0.453																																																	0													55	58	57					2																	66739317		2105	4258	6363	SO:0001583	missense	0				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.779C>T	2.37:g.66739317C>T	ENSP00000272369:p.Thr260Ile		A8MV50	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.T260I	ENST00000272369.9	37	c.779	CCDS46309.1	2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626262	0.87560	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000495021;ENST00000409622;ENST00000402908;ENST00000450027	D;D;D;D;D	0.92149	-2.19;-1.96;-1.96;-2.19;-2.98	5.76	5.76	0.90799	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.73217	2.22	0.80722	D	1	P;D;B;D	0.89917	0.537;1.0;0.402;1.0	B;D;B;D	0.91635	0.32;0.999;0.17;0.999	D	0.94295	0.7532	10	0.38643	T	0.18	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	195;258;260;260	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	I	260;260;258;195;80;116;72	ENSP00000272369:T260I;ENSP00000384461:T260I;ENSP00000381518:T258I;ENSP00000440571:T195I;ENSP00000395827:T72I	ENSP00000272369:T260I	T	+	2	0	MEIS1	66592821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	ACA	MEIS1	-	NULL	ENSG00000143995		0.453	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4		0	69	0	C	NM_002398		66739317	1			no_errors	ENST00000407092	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T	T	66739317	C	T	66739317	3	4	135	1	0	0	0	0	1	0	0	0	9505	478	17	3	809	3	MEIS1	2	66739317	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	2550074	66739317	176460056	17	34664											
CLEC4F	165530	genome.wustl.edu	37	chr2	71044150	71044150	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctgcacttcaacatctgGatttctactacccaggcact	10	12	5	14	0	4	0	1	0	3	0	4	1	4	1	1	2	4	2	1	2	3	4	rs540670274		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:71044150G>T	ENST00000272367.2	-	4	439	c.363C>A	c.(361-363)atC>atA	p.I121I	CLEC4F_ENST00000426626.1_Silent_p.I121I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	121					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.I121I(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TCAACATCTGGATTTCTACTA	0.488																																					Colon(107;10 2157 6841 26035)												1	Substitution - coding silent(1)	endometrium(1)											103	94	97					2																	71044150		2203	4300	6503	SO:0001819	synonymous_variant	0			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.363C>A	2.37:g.71044150G>T			A4QPA5	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.I121	ENST00000272367.2	37	c.363	CCDS1910.1	2																																																																																			CLEC4F	-	NULL	ENSG00000152672		0.488	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1		0	54	0	G	NM_173535		71044150	-1			no_errors	ENST00000272367	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.976	T	T	71044150	G	T	71044150	2	4	135	1	0	0	0	0	0	0	0	1	3523	1164	41	3		3	CLEC4F	2	71044150	Silent	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	4304833	71044150	172155223	18	34665											
MRPS5	64969	genome.wustl.edu	37	chr2	95753228	95753228	+	Frame_Shift_Del	DEL	C	C	-																															tctggatccttcctcaagggCccccggggggacgcaaccac																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:95753228delC	ENST00000272418.2	-	12	1375	c.1167delG	c.(1165-1167)gggfs	p.G389fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	389					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCCTCAAGGGCCCCCGGGGGG	0.562																																																	0													78	72	74					2																	95753228		2203	4300	6503	SO:0001589	frameshift_variant	0			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1167delG	2.37:g.95753228delC	ENSP00000272418:p.Gly389fs		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Frame_Shift_Del	DEL	pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N	p.L391fs	ENST00000272418.2	37	c.1167	CCDS2010.1	2																																																																																			MRPS5	-	NULL	ENSG00000144029		0.562	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS5	HGNC	protein_coding	OTTHUMT00000252772.1		0	58	0	C	NM_031902		95753228	-1	tier1		no_errors	ENST00000272418	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	0.000	-	-	95753228	C	-	95753228	7	5	135	1	0	1	0	1	0	0	0	0	9884	726	26	0	129	0	MRPS5	2	95753228	Frame_Shift_Del	DEL	C	TCGA-LN-A9FR-01A-11D-A387-09	24709078	95753228	147446145	19	34666											
NCAPH	23397	genome.wustl.edu	37	chr2	97008986	97008986	+	Frame_Shift_Del	DEL	T	T	-																															tgccgatgtatacagagtccTtggggggctgggcaaagatg																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:97008986delT	ENST00000240423.4	+	5	582	c.539delT	c.(538-540)cttfs	p.L180fs	NCAPH_ENST00000455200.1_Frame_Shift_Del_p.L169fs|NCAPH_ENST00000427946.1_Frame_Shift_Del_p.L44fs	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	180					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)				TACAGAGTCCTTGGGGGGCTG	0.532																																																	0													126	104	111					2																	97008986		2203	4300	6503	SO:0001589	frameshift_variant	0			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.539delT	2.37:g.97008986delT	ENSP00000240423:p.Leu180fs		B4E189|Q8TB87	Frame_Shift_Del	DEL	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	p.L183fs	ENST00000240423.4	37	c.539	CCDS2021.1	2																																																																																			NCAPH	-	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	ENSG00000121152		0.532	NCAPH-001	KNOWN	basic|CCDS	protein_coding	NCAPH	HGNC	protein_coding	OTTHUMT00000252842.2		0	47	0	T	NM_015341		97008986	1	tier1		no_errors	ENST00000240423	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.998	-	-	97008986	T	-	97008986	7	5	135	1	0	1	0	1	0	0	0	0	10248	1609	56	0	557	0	NCAPH	2	97008986	Frame_Shift_Del	DEL	T	TCGA-LN-A9FR-01A-11D-A387-09	1255758	97008986	146190387	20	34667											
TMEM131	23505	genome.wustl.edu	37	chr2	98418927	98418928	+	Frame_Shift_Ins	INS	-	-	A																															tacaaacactgaagggttggINSaatataaagccagaggaata																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:98418927_98418928insA	ENST00000186436.5	-	24	2842_2843	c.2614_2615insT	c.(2614-2616)tccfs	p.S872fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	872						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGAAGGGTTGGAATATAAAGCC	0.312																																																	0																																										SO:0001589	frameshift_variant	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2615dupT	2.37:g.98418929_98418929dupA	ENSP00000186436:p.Ser872fs			Frame_Shift_Ins	INS	pfam_DUF3651_TMEM131	p.S872fs	ENST00000186436.5	37	c.2615_2614	CCDS46368.1	2																																																																																			TMEM131	-	NULL	ENSG00000075568		0.312	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2		0	76	0	-	XM_371542		98418928	-1	tier1		no_errors	ENST00000186436	ensembl	human	known	74_37	frame_shift_ins	32.56	29	14	INS	1.000:1.000	A	A	98418928	-	A	98418927	7	5	135	1	0	1	1	0	0	0	0	0	16091	1174	41	0	3108	0	TMEM131	2	98418927	Frame_Shift_Ins	INS	-	TCGA-LN-A9FR-01A-11D-A387-09	1409941	98418927	144780446	21	34668											
POU3F3	5455	genome.wustl.edu	37	chr2	105472850	105472852	+	In_Frame_Del	DEL	CGG	CGG	-																															gcgcagggacccccgcaccaCggcggcggcggcggcggcgc																								rs550439793|rs577550493	byFrequency	TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	CGG	CGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:105472850_105472852delCGG	ENST00000361360.2	+	1	882_884	c.882_884delCGG	c.(880-885)cacggc>cac	p.G300del	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	300	Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|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)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCGCACCAcggcggcggcggc	0.749																																																	0										18,2126		3,12,1057						2	1			4	52,4812		3,46,2383	no	coding	POU3F3	NM_006236.1		6,58,3440	A1A1,A1R,RR		1.0691,0.8396,0.9989				70,6938				SO:0001651	inframe_deletion	0				CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.882_884delCGG	2.37:g.105472859_105472861delCGG	ENSP00000355001:p.Gly300del		P78379|Q4ZG25	In_Frame_Del	DEL	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.G298in_frame_del	ENST00000361360.2	37	c.882_884	CCDS33265.1	2																																																																																			POU3F3	-	pirsf_Transcription_factor_POU	ENSG00000198914		0.749	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	POU3F3	HGNC	protein_coding	OTTHUMT00000329335.2		0	36	0	CGG			105472852	1	tier1		no_errors	ENST00000361360	ensembl	human	known	74_37	in_frame_del	18.18	9	2	DEL	1.000:1.000:1.000	-	-	105472852	CGG	-	105472850	7	5	135	1	0	1	0	1	0	0	0	0	12315	535	19	0	884	0	POU3F3	2	105472850	In_Frame_Del	DEL	CGG	TCGA-LN-A9FR-01A-11D-A387-09	7053923	105472850	137726523	22	34669											
PAX8	7849	genome.wustl.edu	37	chr2	114004339	114004339	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcgtgcttacctgccaagGatcttgctgacgcagccatg	7	12	10	12	2	1	1	0	1	1	0	2	2	1	2	3	1	5	3	3	1	2	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:114004339G>T	ENST00000429538.3	-	3	377	c.183C>A	c.(181-183)atC>atA	p.I61I	AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000263334.5_Silent_p.I61I|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Silent_p.I61I|PAX8_ENST00000348715.5_Silent_p.I61I|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263335.7_Silent_p.I61I|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000436293.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	61	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						ACCTGCCAAGGATCTTGCTGA	0.622			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)			Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	0													66	72	70					2																	114004339		2153	4282	6435	SO:0001819	synonymous_variant	0			X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.183C>A	2.37:g.114004339G>T			Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Silent	SNP	pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.I61	ENST00000429538.3	37	c.183	CCDS46398.1	2																																																																																			PAX8	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	ENSG00000125618		0.622	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX8	HGNC	protein_coding	OTTHUMT00000250353.5	-	0	28	0	G			114004339	-1	tier1	-	no_errors	ENST00000429538	ensembl	human	known	74_37	silent	12.12	29	4	SNP	1.000	T	T	114004339	G	T	114004339	2	4	135	1	0	0	0	0	0	0	0	1	11524	1164	41	3		3	PAX8	2	114004339	Silent	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	8531489	114004339	129195034	23	34670											
DPP10	57628	genome.wustl.edu	37	chr2	116548723	116548723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaagataggaaagcCagaaattaaaatccttcata	21	7	8	5	0	1	4	1	0	0	4	2	6	2	5	2	1	1	0	2	1	9	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:116548723C>T	ENST00000410059.1	+	18	2078	c.1598C>T	c.(1597-1599)cCa>cTa	p.P533L	DPP10_ENST00000393147.2_Missense_Mutation_p.P537L|DPP10_ENST00000409163.1_Missense_Mutation_p.P483L|DPP10_ENST00000310323.8_Missense_Mutation_p.P526L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	533						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						ATAGGAAAGCCAGAAATTAAA	0.328																																																	0													72	76	75					2																	116548723		2201	4299	6500	SO:0001583	missense	0			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.1598C>T	2.37:g.116548723C>T	ENSP00000386565:p.Pro533Leu		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.P537L	ENST00000410059.1	37	c.1610	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	0.992	-0.693613	0.03303	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.21031	2.03;2.05;2.03;2.03	5.54	4.65	0.58169	.	0.714928	0.12971	N	0.424153	T	0.12220	0.0297	N	0.12182	0.205	0.31707	N	0.63998	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.09377	0.002;0.004;0.001;0.001	T	0.11036	-1.0604	10	0.10111	T	0.7	-0.0046	13.628	0.62178	0.0:0.8391:0.1609:0.0	.	526;537;529;533	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	L	533;483;537;526;483	ENSP00000386565:P533L;ENSP00000387038:P483L;ENSP00000376855:P537L;ENSP00000309066:P526L	ENSP00000309066:P526L	P	+	2	0	DPP10	116265193	1.000000	0.71417	0.919000	0.36401	0.009000	0.06853	2.737000	0.47393	1.533000	0.49186	0.650000	0.86243	CCA	DPP10	-	NULL	ENSG00000175497		0.328	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0	45	0	C	NM_020868		116548723	1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.954	T	T	116548723	C	T	116548723	3	4	135	1	0	0	0	0	1	0	0	0	4741	594	21	3	1839	3	DPP10	2	116548723	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	2544384	116548723	126650650	24	34671											
PLEKHB2	55041	genome.wustl.edu	37	chr2	131904275	131904275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatcgagacaacgacagcGacctggcactgggcatgctg	10	6	13	12	3	0	1	0	0	0	1	1	4	0	1	1	2	3	4	1	2	2	1			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:131904275G>T	ENST00000403716.1	+	8	1158	c.598G>T	c.(598-600)Gac>Tac	p.D200Y	PLEKHB2_ENST00000234115.6_Missense_Mutation_p.D199Y|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.D208Y|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.D200Y|PLEKHB2_ENST00000438882.2_Silent_p.A163A|PLEKHB2_ENST00000439822.2_Silent_p.A155A|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.D152Y|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.D200Y|PLEKHB2_ENST00000303908.3_Intron	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	200						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CAACGACAGCGACCTGGCACT	0.517																																																	0													164	170	168					2																	131904275		2203	4300	6503	SO:0001583	missense	0				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"Pleckstrin homology (PH) domain containing"	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.598G>T	2.37:g.131904275G>T	ENSP00000385892:p.Asp200Tyr		B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D200Y	ENST00000403716.1	37	c.598	CCDS46413.1	2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538722	0.85917	.	.	ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000538982;ENST00000409612;ENST00000409279	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	T	0.79464	0.4450	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.80699	-0.1266	8	0.62326	D	0.03	.	17.1543	0.86785	0.0:0.0:1.0:0.0	.	199;199;200;208	Q53FF1;Q96CS7-3;Q96CS7;B8ZZN1	.;.;PKHB2_HUMAN;.	Y	208;200;199;152;200;200	.	ENSP00000234115:D199Y	D	+	1	0	PLEKHB2	131620745	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	7.690000	0.84178	2.654000	0.90174	0.644000	0.83932	GAC	PLEKHB2	-	NULL	ENSG00000115762		0.517	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHB2	HGNC	protein_coding	OTTHUMT00000331304.2	-	0	58	0	G	NM_017958		131904275	1	tier1	-	no_errors	ENST00000403716	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	131904275	G	T	131904275	3	4	135	1	0	0	0	0	1	0	0	0	12104	1058	37	2	624	2	PLEKHB2	2	131904275	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	15355552	131904275	111295098	25	34672											
PRPF40A	151188	genome.wustl.edu	37	chr2	153572602	153572602	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctctgacccatagggtgCattcccattggggcataatg	8	11	11	11	0	1	1	0	1	1	0	3	1	2	1	2	3	1	3	2	3	2	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:153572602C>T	ENST00000326446.5	+	0	0				PRPF40A_ENST00000410080.1_Missense_Mutation_p.M41I|PRPF40A_ENST00000486100.1_5'UTR	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						CCATAGGGTGCATTCCCATTG	0.463																																																	0													107	102	103					2																	153572602		1905	4131	6036	SO:0001631	upstream_gene_variant	0			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.153572602C>T	Exception_encountered		B2RDS6|Q7Z4G7	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1	p.M41I	ENST00000326446.5	37	c.123	CCDS2197.1	2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.156007	0.57259	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000359961;ENST00000545856;ENST00000493468;ENST00000448428	T	0.33865	1.39	5.06	4.12	0.48240	.	0.123259	0.85682	D	0.000000	T	0.19846	0.0477	N	0.12182	0.205	0.44469	D	0.9974	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.06391	-1.0829	10	0.19147	T	0.46	-10.2861	12.2533	0.54610	0.1697:0.8303:0.0:0.0	.	68;68;41	O75400;O75400-3;E9PFS0	PR40A_HUMAN;.;.	I	41;68;41;68;61;47	ENSP00000386458:M41I	ENSP00000348770:M68I	M	-	3	0	PRPF40A	153280848	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.383000	0.59600	2.340000	0.79590	0.462000	0.41574	ATG	PRPF40A	-	NULL	ENSG00000196504		0.463	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000254852.3	-	0	30	0	C	NM_152522		153572602	-1	tier1	-	no_errors	ENST00000410080	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	153572602	C	T	153572602	1	4	135	0	1	0	0	0	0	0	0	0	12613	710	25	3		3	PRPF40A	2	153572602	5'Flank	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	21668327	153572602	89626771	26	34673											
SCN7A	6332	genome.wustl.edu	37	chr2	167327160	167327160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatttttaaaattctcaaaGttcttgcagtttgaagcgtt	12	18	6	5	1	2	1	1	1	2	0	3	1	2	1	0	0	2	4	0	0	5	9			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:167327160G>T	ENST00000409855.1	-	6	755	c.629C>A	c.(628-630)aCt>aAt	p.T210N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	210					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T210S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AATTCTCAAAGTTCTTGCAGT	0.299																																																	2	Substitution - Missense(2)	lung(2)											38	38	38					2																	167327160		1802	4061	5863	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.629C>A	2.37:g.167327160G>T	ENSP00000386796:p.Thr210Asn			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.T210N	ENST00000409855.1	37	c.629	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181244	0.57800	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98617	-5.03;-5.03;-5.03	4.62	-2.23	0.06930	Ion transport (1);	0.478571	0.19535	N	0.111945	D	0.93119	0.7809	N	0.17474	0.49	0.22412	N	0.99913	B	0.10296	0.003	B	0.16289	0.015	D	0.86533	0.1823	10	0.48119	T	0.1	.	1.1164	0.01715	0.2834:0.3621:0.1665:0.188	.	210	Q01118	SCN7A_HUMAN	N	210	ENSP00000386796:T210N;ENSP00000413699:T210N;ENSP00000403846:T210N	ENSP00000259060:T210N	T	-	2	0	SCN7A	167035406	1.000000	0.71417	0.837000	0.33122	0.910000	0.53928	2.437000	0.44828	-0.304000	0.08843	0.563000	0.77884	ACT	SCN7A	-	pfam_Ion_trans_dom	ENSG00000136546		0.299	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1		0	83	0	G			167327160	-1			no_errors	ENST00000409855	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.535	T	T	167327160	G	T	167327160	3	4	135	1	0	0	0	0	1	0	0	0	13968	1029	36	3	4499	3	SCN7A	2	167327160	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	13754558	167327160	75872213	27	34674											
OSBPL6	114880	genome.wustl.edu	37	chr2	179257143	179257143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggcctctttccaggttcCatgccaacaaactatgagct	10	12	7	12	0	1	1	0	1	1	0	3	1	3	1	4	2	4	2	4	2	3	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:179257143C>T	ENST00000190611.4	+	23	2827	c.2451C>T	c.(2449-2451)tcC>tcT	p.S817S	OSBPL6_ENST00000359685.3_Silent_p.S781S|OSBPL6_ENST00000315022.2_Silent_p.S821S|OSBPL6_ENST00000409631.1_Silent_p.S781S|OSBPL6_ENST00000409045.3_Silent_p.S786S|OSBPL6_ENST00000392505.2_Silent_p.S842S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	817					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCCAGGTTCCATGCCAACAA	0.443																																																	0													137	125	129					2																	179257143		2203	4300	6503	SO:0001819	synonymous_variant	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2451C>T	2.37:g.179257143C>T			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S821	ENST00000190611.4	37	c.2463	CCDS2277.1	2																																																																																			OSBPL6	-	pfam_Oxysterol-bd	ENSG00000079156		0.443	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2		0	86	0	C	NM_032523		179257143	1			no_errors	ENST00000315022	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T	T	179257143	C	T	179257143	2	4	135	1	0	0	0	0	0	0	0	1	11320	581	21	3		3	OSBPL6	2	179257143	Silent	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	11929983	179257143	63942230	28	34675											
TTN	7273	genome.wustl.edu	37	chr2	179585761	179585761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgtaagcaatgccacaGaattaatgaatgacatgttg	15	11	9	6	1	0	4	0	3	0	1	1	4	0	4	1	0	2	3	1	0	5	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:179585761G>T	ENST00000591111.1	-	77	22258	c.22034C>A	c.(22033-22035)tCt>tAt	p.S7345Y	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6418Y|TTN_ENST00000589042.1_Missense_Mutation_p.S7662Y|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12908	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S6418Y(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)			CAATGCCACAGAATTAATGAA	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											117	115	116					2																	179585761		1965	4171	6136	SO:0001583	missense	0			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.22034C>A	2.37:g.179585761G>T	ENSP00000465570:p.Ser7345Tyr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S6418Y	ENST00000591111.1	37	c.19253		2	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430485	0.25726	.	.	ENSG00000155657	ENST00000342992	T	0.68181	-0.31	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80449	0.4625	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.79729	-0.1681	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	7345	Q8WZ42	TITIN_HUMAN	Y	6418	ENSP00000343764:S6418Y	ENSP00000343764:S6418Y	S	-	2	0	TTN	179294006	1.000000	0.71417	0.626000	0.29213	0.795000	0.44927	4.353000	0.59411	2.937000	0.99478	0.650000	0.86243	TCT	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	28	0	G	NM_133378		179585761	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.996	T	T	179585761	G	T	179585761	3	4	135	1	0	0	0	0	1	0	0	0	16784	942	33	3	81680	3	TTN	2	179585761	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	328618	179585761	63613612	29	34676											
SGOL2	151246	genome.wustl.edu	37	chr2	201437233	201437233	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtaaatcggaagacagaaAtaatttctgaagtgaatcat	19	10	8	4	1	2	4	1	2	1	2	3	5	2	5	0	1	0	1	0	1	8	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:201437233A>T	ENST00000357799.4	+	7	2262	c.2164A>T	c.(2164-2166)Ata>Tta	p.I722L		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)	722					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						GAAGACAGAAATAATTTCTGA	0.333																																																	0													50	45	47					2																	201437233		1815	4065	5880	SO:0001583	missense	0			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.2164A>T	2.37:g.201437233A>T	ENSP00000350447:p.Ile722Leu		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.I722L	ENST00000357799.4	37	c.2164	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	A	13.41	2.228771	0.39399	.	.	ENSG00000163535	ENST00000357799	T	0.11821	2.74	5.0	2.65	0.31530	.	0.537641	0.17185	N	0.183738	T	0.11067	0.0270	L	0.41961	1.31	0.80722	D	1	P;P;P	0.43287	0.802;0.802;0.802	B;B;B	0.38428	0.273;0.273;0.273	T	0.09997	-1.0649	10	0.44086	T	0.13	-1.8496	7.5527	0.27806	0.8257:0.0:0.1743:0.0	.	722;722;722	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	L	722	ENSP00000350447:I722L	ENSP00000350447:I722L	I	+	1	0	SGOL2	201145478	0.901000	0.30685	0.997000	0.53966	0.983000	0.72400	0.191000	0.17076	0.494000	0.27859	0.477000	0.44152	ATA	SGOL2	-	NULL	ENSG00000163535		0.333	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	-	0	45	0	A	NM_152524		201437233	1	tier1	-	no_errors	ENST00000357799	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.957	T	T	201437233	A	T	201437233	3	4	135	1	0	0	0	0	1	0	0	0	14262	101	4	5	2186	5	SGOL2	2	201437233	Missense_Mutation	SNP	A	TCGA-LN-A9FR-01A-11D-A387-09	21851472	201437233	41762140	30	34677											
INO80D	54891	genome.wustl.edu	37	chr2	206874404	206874404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtcgacgaggtccacGccttctcttcttcttgtgtt	3	16	11	11	3	3	0	0	0	3	0	6	2	4	0	2	3	0	1	2	3	0	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:206874404G>A	ENST00000403263.1	-	9	2061	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	553					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CGAGGTCCACGCCTTCTCTTC	0.542																																																	0													112	118	116					2																	206874404		1943	4146	6089	SO:0001583	missense	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1657C>T	2.37:g.206874404G>A	ENSP00000384198:p.Arg553Cys		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.R553C	ENST00000403263.1	37	c.1657	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934978	0.92458	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.39997	1.05	5.8	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	L	0.47716	1.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.58183	-0.7681	10	0.87932	D	0	.	14.0375	0.64654	0.0:0.0:0.8494:0.1506	.	553	Q53TQ3-2	.	C	553	ENSP00000384198:R553C	ENSP00000233270:R553C	R	-	1	0	INO80D	206582649	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.811000	0.55620	2.750000	0.94351	0.655000	0.94253	CGT	INO80D	-	NULL	ENSG00000114933		0.542	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1		0	90	0	G	NM_017759		206874404	-1			no_errors	ENST00000403263	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	A	A	206874404	G	A	206874404	3	1	135	1	0	0	0	0	1	0	0	0	7776	1087	38	1	1438	1	INO80D	2	206874404	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	5437171	206874404	36324969	31	34678											
CDK5R2	8941	genome.wustl.edu	37	chr2	219825199	219825201	+	In_Frame_Del	DEL	GCT	GCT	-																															ttccgcggtgtggaccgctcGctgctgctgcagggctggca																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:219825199_219825201delGCT	ENST00000302625.4	+	1	823_825	c.657_659delGCT	c.(655-660)tcgctg>tcg	p.L222del	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	222					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGACCGCTCGCTGCTGCTGCAG	0.67																																																	0																																										SO:0001651	inframe_deletion	0			U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"neuronal CDK5 activator isoform"	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.657_659delGCT	2.37:g.219825205_219825207delGCT	ENSP00000304250:p.Leu222del		Q4ZFW6	In_Frame_Del	DEL	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.L222in_frame_del	ENST00000302625.4	37	c.657_659	CCDS2427.1	2																																																																																			CDK5R2	-	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	ENSG00000171450		0.67	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R2	HGNC	protein_coding	OTTHUMT00000256728.1		0	13	0	GCT	NM_003936		219825201	1	tier1		no_errors	ENST00000302625	ensembl	human	known	74_37	in_frame_del	40.00	3	2	DEL	0.998:1.000:1.000	-	-	219825201	GCT	-	219825199	7	5	135	1	0	1	0	1	0	0	0	0	3151	1074	38	0	659	0	CDK5R2	2	219825199	In_Frame_Del	DEL	GCT	TCGA-LN-A9FR-01A-11D-A387-09	12950795	219825199	23374174	32	34679											
CCDC108	255101	genome.wustl.edu	37	chr2	219890846	219890846	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccaggatgggcacatggtGcagtcctcctcaatattact	10	10	9	12	0	1	0	1	0	0	0	3	1	3	1	3	3	2	2	3	3	3	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:219890846G>A	ENST00000341552.5	-	14	2330	c.2247C>T	c.(2245-2247)tgC>tgT	p.C749C	CCDC108_ENST00000453220.1_Silent_p.C749C|CCDC108_ENST00000441968.1_Silent_p.C749C	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	749						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)		GGCACATGGTGCAGTCCTCCT	0.592																																																	0													67	60	63					2																	219890846		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2247C>T	2.37:g.219890846G>A			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_MSP_dom	p.C749	ENST00000341552.5	37	c.2247	CCDS2430.2	2																																																																																			CCDC108	-	NULL	ENSG00000181378		0.592	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	-	0	31	0	G	NM_194302		219890846	-1	tier1	-	no_errors	ENST00000341552	ensembl	human	known	74_37	silent	25.00	12	4	SNP	0.993	A	A	219890846	G	A	219890846	2	1	135	1	0	0	0	0	0	0	0	1	2750	1311	46	3		3	CCDC108	2	219890846	Silent	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	65647	219890846	23308527	33	34680											
ABCB6	10058	genome.wustl.edu	37	chr2	220082512	220082512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaccacataccgcagcacCcacaggctaaactgaaccta	15	4	7	15	1	0	2	0	1	0	1	0	3	0	2	4	1	4	3	4	1	5	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:220082512C>A	ENST00000265316.3	-	2	883	c.567G>T	c.(565-567)tgG>tgT	p.W189C	ABCB6_ENST00000439002.2_Intron	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	189					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)	p.W189*(1)		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)		ACCGCAGCACCCACAGGCTAA	0.478																																																	1	Substitution - Nonsense(1)	endometrium(1)											99	107	104					2																	220082512		2203	4300	6503	SO:0001583	missense	0			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.567G>T	2.37:g.220082512C>A	ENSP00000265316:p.Trp189Cys		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.W189C	ENST00000265316.3	37	c.567	CCDS2436.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.922388|4.922388	0.92319|0.92319	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000427013|ENST00000265316	.|D	.|0.89552	.|-2.53	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.059066	.|0.64402	.|N	.|0.000001	D|D	0.93713|0.93713	0.7991|0.7991	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.69142	.|0.962	D|D	0.93666|0.93666	0.6986|0.6986	5|10	.|0.87932	.|D	.|0	-13.4364|-13.4364	20.1169|20.1169	0.97940|0.97940	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|189	.|Q9NP58	.|ABCB6_HUMAN	V|C	167|189	.|ENSP00000265316:W189C	.|ENSP00000265316:W189C	G|W	-|-	2|3	0|0	ABCB6|ABCB6	219790756|219790756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.445000|7.445000	0.80570|0.80570	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GGG|TGG	ABCB6	-	NULL	ENSG00000115657		0.478	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2		0	62	0	C	NM_005689		220082512	-1			no_errors	ENST00000265316	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	220082512	C	A	220082512	3	1	135	1	0	0	0	0	1	0	0	0	45	624	22	3	2033	3	ABCB6	2	220082512	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	191666	220082512	23116861	34	34681											
IL5RA	3568	genome.wustl.edu	37	chr3	3139885	3139885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaagccaggtgcagtgaaGggaaacttggtatgacctta	14	8	12	7	0	0	2	0	2	0	0	0	3	0	3	2	3	4	2	2	3	6	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:3139885G>A	ENST00000446632.2	-	6	1031	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000383846.1_Missense_Mutation_p.L153F|IL5RA_ENST00000418488.2_Missense_Mutation_p.L153F|IL5RA_ENST00000456302.1_Missense_Mutation_p.L153F|IL5RA_ENST00000430514.2_Missense_Mutation_p.L153F|IL5RA_ENST00000438560.1_Missense_Mutation_p.L153F|IL5RA_ENST00000311981.8_Missense_Mutation_p.L153F|IL5RA_ENST00000256452.3_Missense_Mutation_p.L153F	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	153					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)	p.L153F(1)		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)		GTGCAGTGAAGGGAAACTTGG	0.423																																					GBM(169;430 2801 24955 28528)												1	Substitution - Missense(1)	cervix(1)											212	219	216					3																	3139885		2203	4300	6503	SO:0001583	missense	0			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.457C>T	3.37:g.3139885G>A	ENSP00000412209:p.Leu153Phe		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.L153F	ENST00000446632.2	37	c.457	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.377834	0.95945	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	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	5.72	5.72	0.89469	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.81725	0.4883	M	0.88105	2.93	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	T	0.80674	-0.1277	10	0.28530	T	0.3	-27.8828	16.6161	0.84916	0.0:0.0:1.0:0.0	.	153;153;153;153;153	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	F	153	ENSP00000412209:L153F;ENSP00000390753:L153F;ENSP00000256452:L153F;ENSP00000388858:L153F;ENSP00000373358:L153F;ENSP00000309196:L153F;ENSP00000400400:L153F;ENSP00000392059:L153F;ENSP00000398117:L153F	ENSP00000256452:L153F	L	-	1	0	IL5RA	3114885	1.000000	0.71417	0.692000	0.30179	0.782000	0.44232	3.424000	0.52764	2.691000	0.91804	0.655000	0.94253	CTT	IL5RA	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	ENSG00000091181		0.423	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2		0	84	0	G			3139885	-1			no_errors	ENST00000256452	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.985	A	A	3139885	G	A	3139885	3	1	135	1	0	0	0	0	1	0	0	0	7727	1000	35	3	859	3	IL5RA	3	3139885	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09		3139885	194882545	35	34682											
FGD5	152273	genome.wustl.edu	37	chr3	14862129	14862129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcattggaggtgccgcagaGgaggtgggaaagacgctttt	9	8	18	6	2	0	2	0	0	0	2	0	5	0	5	1	6	1	3	1	6	1	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:14862129G>T	ENST00000285046.5	+	1	1661	c.1551G>T	c.(1549-1551)gaG>gaT	p.E517D	FGD5_ENST00000543601.1_Missense_Mutation_p.E276D	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	517					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						GTGCCGCAGAGGAGGTGGGAA	0.612																																																	0													24	27	26					3																	14862129		1943	4128	6071	SO:0001583	missense	0			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.1551G>T	3.37:g.14862129G>T	ENSP00000285046:p.Glu517Asp		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E517D	ENST00000285046.5	37	c.1551	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	8.212	0.800636	0.16397	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76186	-1.0;-0.8	5.05	-4.04	0.04010	.	0.633028	0.14456	N	0.318498	T	0.42177	0.1191	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.21314	-1.0249	10	0.22706	T	0.39	-0.607	1.6946	0.02859	0.4545:0.2621:0.1441:0.1392	.	276;517	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	D	517;276	ENSP00000285046:E517D;ENSP00000445949:E276D	ENSP00000285046:E517D	E	+	3	2	FGD5	14837133	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	0.733000	0.26087	-0.689000	0.05149	-0.172000	0.13284	GAG	FGD5	-	NULL	ENSG00000154783		0.612	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	-	0	90	0	G	NM_152536		14862129	1	tier1	-	no_errors	ENST00000285046	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.000	T	T	14862129	G	T	14862129	3	4	135	1	0	0	0	0	1	0	0	0	5858	991	35	3	1553	3	FGD5	3	14862129	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	11722244	14862129	183160301	36	34683											
ANKRD28	23243	genome.wustl.edu	37	chr3	15753656	15753656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacacttacctgaagaaaGaagttttctgcagcaatctg	13	12	8	8	0	2	3	0	1	2	2	2	3	2	3	1	0	4	4	1	0	6	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:15753656G>T	ENST00000399451.2	-	11	1541	c.1174C>A	c.(1174-1176)Ctt>Att	p.L392I	ANKRD28_ENST00000383777.1_Missense_Mutation_p.L425I|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	392						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCTGAAGAAAGAAGTTTTCTG	0.403																																																	0													46	45	45					3																	15753656		1820	4074	5894	SO:0001583	missense	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1174C>A	3.37:g.15753656G>T	ENSP00000382379:p.Leu392Ile		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L425I	ENST00000399451.2	37	c.1273	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501689	0.85176	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.69685	2.7;-0.42;2.7	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	L	0.37507	1.11	0.80722	D	1	D;D;D	0.64830	0.994;0.989;0.975	P;P;P	0.59487	0.858;0.721;0.777	T	0.61387	-0.7073	10	0.02654	T	1	.	19.2755	0.94030	0.0:0.0:1.0:0.0	.	425;422;392	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	I	392;425;392	ENSP00000382379:L392I;ENSP00000373287:L425I;ENSP00000397341:L392I	ENSP00000373287:L425I	L	-	1	0	ANKRD28	15728660	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.939000	0.87685	2.724000	0.93272	0.563000	0.77884	CTT	ANKRD28	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.403	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1		0	67	0	G	NM_015199		15753656	-1			no_errors	ENST00000383777	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	15753656	G	T	15753656	3	4	135	1	0	0	0	0	1	0	0	0	656	942	33	3	2059	3	ANKRD28	3	15753656	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	891527	15753656	182268774	37	34684											
QRICH1	54870	genome.wustl.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-																															ctgaacaagtaacttggagtTgctgctgctgctgctgtggt																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	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)		AACTTGGAgttgctgctgctgct	0.562																																																	0																																										SO:0001651	inframe_deletion	0				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.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	pfam_DUF3504,superfamily_DEATH-like_dom	p.Q440in_frame_del	ENST00000395443.2	37	c.1319_1317	CCDS2787.1	3																																																																																			QRICH1	-	NULL	ENSG00000198218		0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRICH1	HGNC	protein_coding	OTTHUMT00000345669.1		0	43	0	TGC	NM_017730		49094316	-1	tier1		no_errors	ENST00000357496	ensembl	human	known	74_37	in_frame_del	11.76	15	2	DEL	1.000:1.000:1.000	-	-	49094316	TGC	-	49094314	7	5	135	1	0	1	0	1	0	0	0	0	12924	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-LN-A9FR-01A-11D-A387-09	33340658	49094314	148928116	38	34685											
HYAL2	8692	genome.wustl.edu	37	chr3	50357844	50357844	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	cagtgaagatgggtggtgctGtgggcttgagctccatggcc	6	10	17	8	0	0	3	0	2	0	1	1	3	1	3	2	4	2	3	2	4	1	1			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:50357844G>A	ENST00000447092.1	-	1	2369	c.77C>T	c.(76-78)aCa>aTa	p.T26I	HYAL2_ENST00000395139.3_Missense_Mutation_p.T26I|HYAL2_ENST00000442581.1_Missense_Mutation_p.T26I|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000357750.4_Missense_Mutation_p.T26I			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	26					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGTGGTGCTGTGGGCTTGAG	0.662																																																	0													40	33	35					3																	50357844		2201	4300	6501	SO:0001583	missense	0			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"lysosomal hyaluronidase", "PH-20 homolog", "hyaluronidase 2"	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.77C>T	3.37:g.50357844G>A	ENSP00000401853:p.Thr26Ile		B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.T26I	ENST00000447092.1	37	c.77	CCDS2818.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.455120	0.96223	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581;ENST00000458018;ENST00000424190;ENST00000426286;ENST00000428028;ENST00000415028	T;T;T;T;T;T;T;T;T	0.58797	2.49;2.49;2.49;2.49;1.89;1.47;1.42;1.38;0.31	5.64	5.64	0.86602	.	0.095414	0.64402	D	0.000001	T	0.75997	0.3926	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.75020	0.985;0.945	T	0.76870	-0.2799	10	0.66056	D	0.02	-16.1288	18.6399	0.91392	0.0:0.0:1.0:0.0	.	26;26	B3KRZ2;Q12891	.;HYAL2_HUMAN	I	26	ENSP00000401853:T26I;ENSP00000350387:T26I;ENSP00000378571:T26I;ENSP00000406657:T26I;ENSP00000399677:T26I;ENSP00000398714:T26I;ENSP00000409642:T26I;ENSP00000414656:T26I;ENSP00000405855:T26I	ENSP00000350387:T26I	T	-	2	0	HYAL2	50332848	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	9.704000	0.98716	2.822000	0.97130	0.557000	0.71058	ACA	HYAL2	-	pfam_Hyaluronidase,pirsf_Hyaluronidase	ENSG00000068001		0.662	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL2	HGNC	protein_coding	OTTHUMT00000346391.1	-	0	24	0	G	NM_003773		50357844	-1	tier1	-	no_errors	ENST00000357750	ensembl	human	known	74_37	missense	64.29	5	9	SNP	1.000	A	A	50357844	G	A	50357844	3	1	135	1	0	0	0	0	1	0	0	0	7491	1377	48	3	1356	3	HYAL2	3	50357844	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	1263530	50357844	147664586	39	34686											
UBA3	9039	genome.wustl.edu	37	chr3	69105806	69105806	+	Missense_Mutation	SNP	T	T	A	0	1	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	atgtatacagcccatctacaTcattaaacaccaagtaatta	17	11	3	10	0	2	0	1	0	1	0	2	0	2	0	2	0	4	2	2	0	8	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:69105806T>A	ENST00000361055.4	-	14	1094	c.1040A>T	c.(1039-1041)gAt>gTt	p.D347V	UBA3_ENST00000415609.2_Missense_Mutation_p.D306V|CTD-2013N24.2_ENST00000595925.1_RNA|UBA3_ENST00000540295.1_Missense_Mutation_p.D170V|UBA3_ENST00000349511.4_Missense_Mutation_p.D333V	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	347					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CCCATCTACATCATTAAACAC	0.264																																																	0													111	112	111					3																	69105806		2201	4294	6495	SO:0001583	missense	0			AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"Ubiquitin-like modifier activating enzymes"	12470	protein-coding gene	gene with protein product	"NEDD8-activating enzyme E1 catalytic subunit", "NEDD8-activating enzyme E1 subunit 2"	603172	"ubiquitin-activating enzyme E1C (homologous to yeast UBA3)", "ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.1040A>T	3.37:g.69105806T>A	ENSP00000354340:p.Asp347Val		A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_E2_binding,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.D347V	ENST00000361055.4	37	c.1040	CCDS2909.1	3	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606303	0.66445	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511;ENST00000540295	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.92	5.92	0.95590	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.70026	-0.4985	10	0.87932	D	0	-18.0573	16.4116	0.83717	0.0:0.0:0.0:1.0	.	333;347	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	V	306;347;333;170	ENSP00000400294:D306V;ENSP00000354340:D347V;ENSP00000340041:D333V;ENSP00000440085:D170V	ENSP00000340041:D333V	D	-	2	0	UBA3	69188496	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	7.964000	0.87933	2.276000	0.75962	0.529000	0.55759	GAT	UBA3	-	superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000144744		0.264	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA3	HGNC	protein_coding	OTTHUMT00000334839.1	-	0	45	0	T	NM_198195		69105806	-1	tier1	-	no_errors	ENST00000361055	ensembl	human	known	74_37	missense	36.36	14	8	SNP	1.000	A	A	69105806	T	A	69105806	3	1	135	1	0	0	0	0	1	0	0	0	16878	1435	50	5	371	5	UBA3	3	69105806	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	18747962	69105806	128916624	40	34687											
COL6A6	131873	genome.wustl.edu	37	chr3	130282295	130282295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgaggataatgtggaagagGcatcaaaggccctgcggaaa	14	6	14	7	1	1	2	1	1	0	1	1	5	1	5	1	5	1	1	1	5	4	1			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:130282295G>A	ENST00000358511.6	+	2	479	c.448G>A	c.(448-450)Gca>Aca	p.A150T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A150T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	150	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 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						TGTGGAAGAGGCATCAAAGGC	0.493																																																	0													52	52	52					3																	130282295		1916	4124	6040	SO:0001583	missense	0			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.448G>A	3.37:g.130282295G>A	ENSP00000351310:p.Ala150Thr		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A150T	ENST00000358511.6	37	c.448	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248069	0.59103	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.80214	-1.35;-1.35	5.21	2.01	0.26516	von Willebrand factor, type A (3);	0.220705	0.31760	N	0.007120	D	0.82944	0.5147	M	0.85197	2.74	0.34338	D	0.688409	P	0.36354	0.549	B	0.39617	0.305	D	0.87496	0.2430	10	0.45353	T	0.12	.	15.4175	0.74983	0.0:0.662:0.338:0.0	.	150	A6NMZ7	CO6A6_HUMAN	T	150	ENSP00000351310:A150T;ENSP00000399236:A150T	ENSP00000351310:A150T	A	+	1	0	COL6A6	131764985	0.698000	0.27777	0.939000	0.37840	0.561000	0.35649	2.208000	0.42797	0.648000	0.30732	0.561000	0.74099	GCA	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.493	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5		0	45	0	G	NM_001102608		130282295	1			no_errors	ENST00000358511	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.890	A	A	130282295	G	A	130282295	3	1	135	1	0	0	0	0	1	0	0	0	3710	1203	42	3	454	3	COL6A6	3	130282295	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	61176489	130282295	67740135	41	34688											
DBR1	51163	genome.wustl.edu	37	chr3	137886121	137886121	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cttcttggccaatcatgagaCaagaatatatctataggctg	13	12	8	8	0	3	2	1	1	2	2	3	3	3	2	1	2	0	1	1	2	7	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:137886121C>A	ENST00000260803.4	-	5	669	c.516G>T	c.(514-516)ttG>ttT	p.L172F	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	172					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						AATCATGAGACAAGAATATAT	0.328																																																	0													42	45	44					3																	137886121		2203	4300	6503	SO:0001583	missense	0			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.516G>T	3.37:g.137886121C>A	ENSP00000260803:p.Leu172Phe		Q96GH0|Q9NXQ6	Missense_Mutation	SNP	pfam_DBR1_C,pfam_PEstase_dom	p.L172F	ENST00000260803.4	37	c.516	CCDS33863.1	3	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412924	0.62511	.	.	ENSG00000138231	ENST00000260803	D	0.87729	-2.29	5.28	0.0214	0.14129	Metallophosphoesterase domain (1);	0.051478	0.64402	D	0.000001	D	0.89808	0.6822	M	0.73372	2.23	0.80722	D	1	D	0.53885	0.963	P	0.61533	0.89	D	0.87521	0.2446	10	0.72032	D	0.01	-25.0613	8.6287	0.33906	0.0:0.5993:0.0:0.4007	.	172	Q9UK59	DBR1_HUMAN	F	172	ENSP00000260803:L172F	ENSP00000260803:L172F	L	-	3	2	DBR1	139368811	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.756000	0.38390	0.018000	0.15052	-0.312000	0.09012	TTG	DBR1	-	pfam_PEstase_dom	ENSG00000138231		0.328	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBR1	HGNC	protein_coding	OTTHUMT00000357585.1	-	0	30	0	C			137886121	-1	tier1	-	no_errors	ENST00000260803	ensembl	human	known	74_37	missense	35.29	11	6	SNP	1.000	A	A	137886121	C	A	137886121	3	1	135	1	0	0	0	0	1	0	0	0	4266	477	17	3	1134	3	DBR1	3	137886121	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	7603826	137886121	60136309	42	34689											
ATR	545	genome.wustl.edu	37	chr3	142172056	142172056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattccacaagaggatcatGtagaaaagtctttaagacac	16	9	7	9	0	2	3	1	0	1	3	3	4	3	4	2	1	0	1	2	1	5	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:142172056G>T	ENST00000350721.4	-	46	7796	c.7675C>A	c.(7675-7677)Cat>Aat	p.H2559N	ATR_ENST00000383101.3_Missense_Mutation_p.H2495N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2559	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						AGAGGATCATGTAGAAAAGTC	0.348								Other conserved DNA damage response genes																																									0													97	91	93					3																	142172056		2203	4300	6503	SO:0001583	missense	0			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.7675C>A	3.37:g.142172056G>T	ENSP00000343741:p.His2559Asn		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.H2559N	ENST00000350721.4	37	c.7675	CCDS3124.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.436414|4.436414	0.83885|0.83885	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	D;D|.	0.81499|.	-1.5;-1.5|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82545|0.82545	0.5060|0.5060	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.72338|.	0.977|.	D|D	0.84963|0.84963	0.0878|0.0878	10|5	0.87932|.	D|.	0|.	-17.4066|-17.4066	18.2999|18.2999	0.90160|0.90160	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2559|.	Q13535|.	ATR_HUMAN|.	N|K	2559;2495|405	ENSP00000343741:H2559N;ENSP00000372581:H2495N|.	ENSP00000343741:H2559N|.	H|T	-|-	1|2	0|0	ATR|ATR	143654746|143654746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.733000|9.733000	0.98818|0.98818	2.320000|2.320000	0.78422|0.78422	0.591000|0.591000	0.81541|0.81541	CAT|ACA	ATR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000175054		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2		0	50	0	G	NM_001184		142172056	-1			no_errors	ENST00000350721	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T	T	142172056	G	T	142172056	3	4	135	1	0	0	0	0	1	0	0	0	1205	1377	48	3	267	3	ATR	3	142172056	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	4285935	142172056	55850374	43	34690											
DHX36	170506	genome.wustl.edu	37	chr3	153993988	153993988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatatccatcctggaatcgtGgcggaaagttcctgggagtt	10	11	12	8	2	0	0	0	0	0	0	4	3	3	3	3	4	0	2	3	4	4	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:153993988G>T	ENST00000496811.1	-	25	3079	c.2999C>A	c.(2998-3000)cCa>cAa	p.P1000Q	DHX36_ENST00000329463.5_Missense_Mutation_p.P986Q|DHX36_ENST00000544526.1_Missense_Mutation_p.P986Q|DHX36_ENST00000308361.6_Missense_Mutation_p.P971Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	1000					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)			CTGGAATCGTGGCGGAAAGTT	0.433																																																	0													144	136	138					3																	153993988		2203	4300	6503	SO:0001583	missense	0			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.2999C>A	3.37:g.153993988G>T	ENSP00000417078:p.Pro1000Gln		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1000Q	ENST00000496811.1	37	c.2999	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215492	0.58452	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	T;T;T;T	0.03441	4.1;4.05;3.93;3.93	5.82	5.82	0.92795	.	0.047442	0.85682	D	0.000000	T	0.11623	0.0283	L	0.41236	1.265	0.22213	N	0.999282	D;D;D	0.67145	0.996;0.996;0.994	P;P;P	0.59889	0.865;0.865;0.737	T	0.02333	-1.1175	10	0.49607	T	0.09	.	20.104	0.97884	0.0:0.0:1.0:0.0	.	986;971;1000	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	Q	1000;971;986;986	ENSP00000417078:P1000Q;ENSP00000309296:P971Q;ENSP00000444247:P986Q;ENSP00000330113:P986Q	ENSP00000309296:P971Q	P	-	2	0	DHX36	155476682	1.000000	0.71417	0.084000	0.20598	0.730000	0.41778	7.419000	0.80179	2.741000	0.93983	0.557000	0.71058	CCA	DHX36	-	NULL	ENSG00000174953		0.433	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	-	0	43	0	G	NM_020865		153993988	-1	tier1	-	no_errors	ENST00000496811	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.303	T	T	153993988	G	T	153993988	3	4	135	1	0	0	0	0	1	0	0	0	4523	1348	47	3	31	3	DHX36	3	153993988	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	11821932	153993988	44028442	44	34691											
MME	4311	genome.wustl.edu	37	chr3	154889996	154889996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactatttttcttgaactttGcacaggtattgtgtctttct	8	20	6	7	0	3	1	0	1	3	0	3	1	3	1	0	1	3	2	0	1	4	8			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:154889996G>T	ENST00000460393.1	+	21	2191	c.2071G>T	c.(2071-2073)Gca>Tca	p.A691S	MME_ENST00000462745.1_Missense_Mutation_p.A691S|MME_ENST00000360490.2_Missense_Mutation_p.A691S|MME_ENST00000492661.1_Missense_Mutation_p.A691S|MME_ENST00000493237.1_Missense_Mutation_p.A691S|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	691					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)	CTTGAACTTTGCACAGGTATT	0.328																																																	0													92	99	97					3																	154889996		2203	4299	6502	SO:0001583	missense	0				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.2071G>T	3.37:g.154889996G>T	ENSP00000418525:p.Ala691Ser		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A691S	ENST00000460393.1	37	c.2071	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921885	0.92319	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05	5.43	5.43	0.79202	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.056249	0.64402	D	0.000001	D	0.96969	0.9010	M	0.91090	3.175	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.97620	1.0135	10	0.87932	D	0	-16.9497	19.2626	0.93974	0.0:0.0:1.0:0.0	.	691	P08473	NEP_HUMAN	S	691	ENSP00000420389:A691S;ENSP00000418525:A691S;ENSP00000419653:A691S;ENSP00000417079:A691S;ENSP00000353679:A691S	ENSP00000353679:A691S	A	+	1	0	MME	156372690	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.666000	0.98612	2.544000	0.85801	0.585000	0.79938	GCA	MME	-	pfam_Peptidase_M13_C	ENSG00000196549		0.328	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	-	0	72	0	G	NM_000902		154889996	1	tier1	-	no_errors	ENST00000360490	ensembl	human	known	74_37	missense	43.75	27	21	SNP	1.000	T	T	154889996	G	T	154889996	3	4	135	1	0	0	0	0	1	0	0	0	9683	1319	46	3	2149	3	MME	3	154889996	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	896008	154889996	43132434	45	34692											
SI	6476	genome.wustl.edu	37	chr3	164700808	164700808	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctggtttaaattaaattgTacagataaatataggtctct	15	15	6	5	0	1	1	0	0	1	1	2	1	1	1	1	2	1	2	1	2	9	8	rs547324596		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:164700808T>C	ENST00000264382.3	-	46	5291	c.5229A>G	c.(5227-5229)gtA>gtG	p.V1743V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1743	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATTAAATTGTACAGATAAAT	0.323										HNSCC(35;0.089)																																							0													37	43	41					3																	164700808		2197	4299	6496	SO:0001819	synonymous_variant	0			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.5229A>G	3.37:g.164700808T>C			A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.V1743	ENST00000264382.3	37	c.5229	CCDS3196.1	3																																																																																			SI	-	NULL	ENSG00000090402		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	64	0	T	NM_001041		164700808	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	silent	22.22	28	8	SNP	0.514	C	C	164700808	T	C	164700808	2	2	135	1	0	0	0	0	0	0	0	1	14342	1625	57	4		4	SI	3	164700808	Silent	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	9810812	164700808	33321622	46	34693											
SI	6476	genome.wustl.edu	37	chr3	164709998	164709998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccaccgagcattggggacGtaggcatttacagtttgaac	12	9	11	9	2	0	1	0	1	0	0	0	3	0	2	2	3	4	4	2	3	4	5	rs370336977		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:164709998G>A	ENST00000264382.3	-	43	5012	c.4950C>T	c.(4948-4950)taC>taT	p.Y1650Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1650	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CATTGGGGACGTAGGCATTTA	0.353										HNSCC(35;0.089)																																							0													138	145	142					3																	164709998		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4950C>T	3.37:g.164709998G>A			A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.Y1650	ENST00000264382.3	37	c.4950	CCDS3196.1	3																																																																																			SI	-	pfam_Glyco_hydro_31	ENSG00000090402		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	68	0	G	NM_001041		164709998	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	silent	27.59	21	8	SNP	0.141	A	A	164709998	G	A	164709998	2	1	135	1	0	0	0	0	0	0	0	1	14342	1140	40	1		1	SI	3	164709998	Silent	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	9190	164709998	33312432	47	34694											
LCORL	254251	genome.wustl.edu	37	chr4	17885614	17885614	+	Frame_Shift_Del	DEL	T	T	-																															cacgttttttcctgggctgcTtactgtcttttcgatctaat																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:17885614delT	ENST00000382226.5	-	7	1646	c.1538delA	c.(1537-1539)aagfs	p.K513fs	LCORL_ENST00000326877.4_Intron|LCORL_ENST00000382224.1_Frame_Shift_Del_p.K429fs|LCORL_ENST00000539056.1_Intron	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	513					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTGGGCTGCTTACTGTCTTT	0.398																																																	0													129	100	109					4																	17885614		692	1590	2282	SO:0001589	frameshift_variant	0				CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.1538delA	4.37:g.17885614delT	ENSP00000371661:p.Lys513fs		Q96NK1	Frame_Shift_Del	DEL	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.K513fs	ENST00000382226.5	37	c.1538	CCDS54749.1	4																																																																																			LCORL	-	NULL	ENSG00000178177		0.398	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LCORL	HGNC	protein_coding			0	62	0	T	NM_153686		17885614	-1	tier1		no_errors	ENST00000382226	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	1.000	-	-	17885614	T	-	17885614	7	5	135	1	0	1	0	1	0	0	0	0	8718	1609	56	0	459	0	LCORL	4	17885614	Frame_Shift_Del	DEL	T	TCGA-LN-A9FR-01A-11D-A387-09		17885614	173268662	48	34695											
ARAP2	116984	genome.wustl.edu	37	chr4	36230984	36230984	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctgcagcaggctgtcaTttattgctgcacagtccttc	6	16	8	11	0	2	0	1	0	1	0	4	0	3	0	1	1	4	5	1	1	1	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:36230984T>C	ENST00000303965.4	-	2	614	c.125A>G	c.(124-126)aAt>aGt	p.N42S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	42	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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						CAGGCTGTCATTTATTGCTGC	0.373																																																	0													67	69	69					4																	36230984		2203	4300	6503	SO:0001583	missense	0			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.125A>G	4.37:g.36230984T>C	ENSP00000302895:p.Asn42Ser		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.N42S	ENST00000303965.4	37	c.125	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449393	0.63178	.	.	ENSG00000047365	ENST00000303965;ENST00000506189	T;T	0.44881	0.91;0.91	5.8	5.8	0.92144	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.267762	0.35870	N	0.002926	T	0.49167	0.1541	L	0.39692	1.235	0.35746	D	0.819064	D	0.56746	0.977	P	0.55011	0.766	T	0.55673	-0.8104	10	0.33141	T	0.24	.	16.1878	0.81964	0.0:0.0:0.0:1.0	.	42	Q8WZ64	ARAP2_HUMAN	S	42	ENSP00000302895:N42S;ENSP00000422731:N42S	ENSP00000302895:N42S	N	-	2	0	ARAP2	35907379	1.000000	0.71417	0.997000	0.53966	0.523000	0.34469	2.880000	0.48530	2.216000	0.71823	0.529000	0.55759	AAT	ARAP2	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000047365		0.373	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0	52	0	T	NM_015230		36230984	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	52.94	8	9	SNP	1.000	C	C	36230984	T	C	36230984	3	2	135	1	0	0	0	0	1	0	0	0	839	1493	52	4	5117	4	ARAP2	4	36230984	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	18345370	36230984	154923292	49	34696											
RELL1	768211	genome.wustl.edu	37	chr4	37650945	37650945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcttgctctgcttctgttGtacaacgatagcctttcttc	6	18	6	11	1	4	0	0	0	4	0	5	1	4	0	1	0	5	4	1	0	4	8			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:37650945G>A	ENST00000454158.2	-	2	354	c.266C>T	c.(265-267)aCa>aTa	p.T89I	RELL1_ENST00000314117.4_Missense_Mutation_p.T89I	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	89						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						TGCTTCTGTTGTACAACGATA	0.418																																																	0													171	175	174					4																	37650945		1902	4120	6022	SO:0001583	missense	0			AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.266C>T	4.37:g.37650945G>A	ENSP00000398778:p.Thr89Ile		Q8NBK1	Missense_Mutation	SNP	pfam_TNF_rcpt_RELT	p.T89I	ENST00000454158.2	37	c.266	CCDS43221.1	4	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702282	0.68501	.	.	ENSG00000181826	ENST00000314117;ENST00000454158;ENST00000512114	T;T;T	0.36699	1.27;1.27;1.24	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	M	0.68952	2.095	0.50632	D	0.99988	D	0.89917	1.0	D	0.91635	0.999	T	0.63453	-0.6634	10	0.87932	D	0	-16.1688	18.9955	0.92810	0.0:0.0:1.0:0.0	.	89	Q8IUW5	RELL1_HUMAN	I	89;89;110	ENSP00000313385:T89I;ENSP00000398778:T89I;ENSP00000424031:T110I	ENSP00000313385:T89I	T	-	2	0	RELL1	37327340	1.000000	0.71417	0.963000	0.40424	0.702000	0.40608	4.934000	0.63491	2.577000	0.86979	0.655000	0.94253	ACA	RELL1	-	pfam_TNF_rcpt_RELT	ENSG00000181826		0.418	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RELL1	HGNC	protein_coding	OTTHUMT00000360485.1		0	72	0	G	NM_001085400		37650945	-1			no_errors	ENST00000314117	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.994	A	A	37650945	G	A	37650945	3	1	135	1	0	0	0	0	1	0	0	0	13263	1377	48	3	569	3	RELL1	4	37650945	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	1419961	37650945	153503331	50	34697											
PDGFRA	5156	genome.wustl.edu	37	chr4	55161318	55161318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacctctgaagagagtgccaTtgagacgggttccagcagtt	10	9	13	9	1	1	3	0	2	1	2	2	6	2	3	3	1	2	3	3	1	1	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:55161318T>C	ENST00000257290.5	+	23	3480	c.3149T>C	c.(3148-3150)aTt>aCt	p.I1050T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.I810T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1050	Ser-rich.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.I1050T(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAGAGTGCCATTGAGACGGGT	0.517			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	1	Substitution - Missense(1)	central_nervous_system(1)											128	114	119					4																	55161318		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3149T>C	4.37:g.55161318T>C	ENSP00000257290:p.Ile1050Thr		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I1050T	ENST00000257290.5	37	c.3149	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	T	22.4	4.278433	0.80692	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.77750	-1.12;-0.94	5.75	5.75	0.90469	.	0.000000	0.32416	U	0.006125	D	0.84772	0.5546	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.84279	0.0493	10	0.41790	T	0.15	.	16.044	0.80704	0.0:0.0:0.0:1.0	.	1050	P16234	PGFRA_HUMAN	T	810;1050	ENSP00000423325:I810T;ENSP00000257290:I1050T	ENSP00000423325:I810T	I	+	2	0	FIP1L1;PDGFRA	54856075	1.000000	0.71417	0.989000	0.46669	0.934000	0.57294	7.698000	0.84413	2.198000	0.70561	0.379000	0.24179	ATT	PDGFRA	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000134853		0.517	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2		0	82	0	T	NM_006206		55161318	1			no_errors	ENST00000257290	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.603	C	C	55161318	T	C	55161318	3	2	135	1	0	0	0	0	1	0	0	0	11700	1493	52	4	3235	4	PDGFRA	4	55161318	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	17510373	55161318	135992958	51	34698											
KDR	3791	genome.wustl.edu	37	chr4	55964887	55964887	+	Missense_Mutation	SNP	T	T	C	0	1	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	cttaacggtccgtaggatgaTgacaagaagtagccagaaga	15	7	12	7	2	0	5	0	2	0	3	1	6	1	6	2	2	2	2	2	2	6	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:55964887T>C	ENST00000263923.4	-	16	2645	c.2350A>G	c.(2350-2352)Atc>Gtc	p.I784V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	784					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)	CGTAGGATGATGACAAGAAGT	0.428			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													118	119	119					4																	55964887		2203	4300	6503	SO:0001583	missense	0			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.2350A>G	4.37:g.55964887T>C	ENSP00000263923:p.Ile784Val		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt	p.I784V	ENST00000263923.4	37	c.2350	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	T	12.07	1.826777	0.32329	.	.	ENSG00000128052	ENST00000263923	T	0.74632	-0.86	5.97	4.8	0.61643	.	0.166180	0.53938	D	0.000052	T	0.48943	0.1528	N	0.03608	-0.345	0.38948	D	0.958298	B	0.16166	0.016	B	0.11329	0.006	T	0.49808	-0.8900	10	0.15499	T	0.54	.	11.5115	0.50496	0.0:0.0696:0.0:0.9304	.	784	P35968	VGFR2_HUMAN	V	784	ENSP00000263923:I784V	ENSP00000263923:I784V	I	-	1	0	KDR	55659644	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	2.853000	0.48317	2.283000	0.76528	0.533000	0.62120	ATC	KDR	-	NULL	ENSG00000128052		0.428	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	-	0	50	0	T			55964887	-1	tier1	-	no_errors	ENST00000263923	ensembl	human	known	74_37	missense	48.57	18	17	SNP	1.000	C	C	55964887	T	C	55964887	3	2	135	1	0	0	0	0	1	0	0	0	8166	1464	51	4	1780	4	KDR	4	55964887	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	803569	55964887	135189389	52	34699											
EPHA5	2044	genome.wustl.edu	37	chr4	66230783	66230783	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gatgttaggatgatcaaactGtcccatgatacttgcttcac	11	13	8	9	0	2	2	2	2	0	0	3	4	3	3	1	1	3	2	1	1	3	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:66230783G>T	ENST00000273854.3	-	12	2788	c.2188C>A	c.(2188-2190)Cag>Aag	p.Q730K	EPHA5_ENST00000354839.4_Missense_Mutation_p.Q708K|EPHA5_ENST00000432638.2_Missense_Mutation_p.Q567K|EPHA5_ENST00000511294.1_Missense_Mutation_p.Q731K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	730	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)	p.Q730K(2)		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						TGATCAAACTGTCCCATGATA	0.388										TSP Lung(17;0.13)																																							2	Substitution - Missense(2)	lung(2)											230	219	223					4																	66230783		2203	4300	6503	SO:0001583	missense	0			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.2188C>A	4.37:g.66230783G>T	ENSP00000273854:p.Gln730Lys		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q730K	ENST00000273854.3	37	c.2188	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.255840	0.95336	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.76	5.76	0.90799	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000034	T	0.80824	0.4697	N	0.04245	-0.25	0.80722	D	1	D;D;D;D	0.71674	0.993;0.997;0.992;0.998	D;D;D;D	0.87578	0.983;0.998;0.971;0.978	D	0.86023	0.1508	10	0.87932	D	0	.	19.9664	0.97271	0.0:0.0:1.0:0.0	.	709;731;708;730	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	730;567;708;731	ENSP00000273854:Q730K;ENSP00000389208:Q567K;ENSP00000346899:Q708K;ENSP00000427638:Q731K	ENSP00000273854:Q730K	Q	-	1	0	EPHA5	65913378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.824000	0.99380	2.724000	0.93272	0.650000	0.86243	CAG	EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom	ENSG00000145242		0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2		0	112	0	G	NM_004439		66230783	-1			no_errors	ENST00000273854	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	66230783	G	T	66230783	3	4	135	1	0	0	0	0	1	0	0	0	5186	1386	48	3	953	3	EPHA5	4	66230783	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	10265896	66230783	124923493	53	34700											
TERT	7015	genome.wustl.edu	37	chr5	1279450	1279450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcctgggcccgcacacGcagcacgaaggtgcgccagg	7	3	16	15	5	0	0	0	0	0	0	1	1	1	0	3	4	2	3	3	4	1	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:1279450G>A	ENST00000310581.5	-	5	2143	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	TERT_ENST00000508104.2_Missense_Mutation_p.R696C|TERT_ENST00000334602.6_Missense_Mutation_p.R696C|TERT_ENST00000296820.5_Missense_Mutation_p.R696C	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	696	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GCCCGCACACGCAGCACGAAG	0.711									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								0													8	10	9					5																	1279450		2158	4259	6417	SO:0001583	missense	0	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.2086C>T	5.37:g.1279450G>A	ENSP00000309572:p.Arg696Cys		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT	p.R696C	ENST00000310581.5	37	c.2086	CCDS3861.2	5	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245464	0.22796	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.98178	-4.77;-4.19;-4.77;-4.19	4.67	3.7	0.42460	Reverse transcriptase (1);	0.860550	0.10438	N	0.674708	D	0.98516	0.9505	M	0.77820	2.39	0.39218	D	0.963447	D;D;D	0.76494	0.998;0.999;0.997	P;D;P	0.65874	0.738;0.939;0.551	D	0.97830	1.0262	10	0.56958	D	0.05	-15.7503	8.4436	0.32828	0.0:0.0:0.7015:0.2985	.	696;696;696	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	C	696	ENSP00000309572:R696C;ENSP00000296820:R696C;ENSP00000334346:R696C;ENSP00000426042:R696C	ENSP00000296820:R696C	R	-	1	0	TERT	1332450	0.900000	0.30661	0.317000	0.25265	0.074000	0.17049	2.306000	0.43673	2.149000	0.67028	0.313000	0.20887	CGT	TERT	-	pfscan_RVT	ENSG00000164362		0.711	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	HGNC	protein_coding	OTTHUMT00000206729.2	-	0	57	0	G			1279450	-1	tier1	-	no_errors	ENST00000310581	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.732	A	A	1279450	G	A	1279450	3	1	135	1	0	0	0	0	1	0	0	0	15811	1087	38	1	1360	1	TERT	5	1279450	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09		1279450	179635810	54	34701											
RICTOR	253260	genome.wustl.edu	37	chr5	38942960	38942960	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaactgtacatcttgaaatAattcttgtatgaacctccga	14	13	6	8	1	2	2	0	2	2	0	3	4	3	2	2	0	3	2	2	0	6	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:38942960A>C	ENST00000357387.3	-	37	5057	c.5027T>G	c.(5026-5028)tTa>tGa	p.L1676*	RICTOR_ENST00000296782.5_Nonsense_Mutation_p.L1700*	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATCTTGAAATAATTCTTGTAT	0.333																																																	0													75	77	77					5																	38942960		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.5027T>G	5.37:g.38942960A>C	ENSP00000349959:p.Leu1676*			Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.L1700*	ENST00000357387.3	37	c.5099	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	A	45	11.855323	0.99610	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3632	16.5205	0.84312	1.0:0.0:0.0:0.0	.	.	.	.	X	1676;1700	.	ENSP00000296782:L1700X	L	-	2	0	RICTOR	38978717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.796000	0.91877	2.299000	0.77371	0.533000	0.62120	TTA	RICTOR	-	NULL	ENSG00000164327		0.333	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	-	0	82	0	A	NM_152756		38942960	-1	tier1	-	no_errors	ENST00000296782	ensembl	human	known	74_37	nonsense	14.29	54	9	SNP	1.000	C	C	38942960	A	C	38942960	4	2	135	1	0	0	0	0	0	1	0	0	13403	372	13	4	107	4	RICTOR	5	38942960	Nonsense_Mutation	SNP	A	TCGA-LN-A9FR-01A-11D-A387-09	37663510	38942960	141972300	55	34702											
GPR98	84059	genome.wustl.edu	37	chr5	90281288	90281288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcatagttattttgaaagGaatctatcatcagagcatgt	13	14	7	7	0	4	2	3	1	1	1	4	3	4	3	1	1	1	2	1	1	5	5			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:90281288G>T	ENST00000405460.2	+	85	18197	c.18101G>T	c.(18100-18102)gGa>gTa	p.G6034V	GPR98_ENST00000425867.2_Missense_Mutation_p.G1695V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6034					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)		ATTTTGAAAGGAATCTATCAT	0.433																																																	0													210	195	200					5																	90281288		1935	4147	6082	SO:0001583	missense	0			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.18101G>T	5.37:g.90281288G>T	ENSP00000384582:p.Gly6034Val		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G6034V	ENST00000405460.2	37	c.18101	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613704	0.28712	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.41758	0.99;0.99	5.83	3.06	0.35304	GPCR, family 2-like (1);	0.277663	0.40640	N	0.001053	T	0.45256	0.1333	L	0.34521	1.04	0.80722	D	1	D;D;P	0.52996	0.957;0.957;0.947	P;P;P	0.58721	0.844;0.767;0.758	T	0.15009	-1.0452	9	.	.	.	.	11.3083	0.49349	0.0645:0.239:0.6965:0.0	.	1695;6034;1695	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	V	6034;6034;1695	ENSP00000384582:G6034V;ENSP00000392618:G1695V	.	G	+	2	0	GPR98	90317044	1.000000	0.71417	0.267000	0.24556	0.005000	0.04900	5.066000	0.64351	0.365000	0.24400	-0.182000	0.12963	GGA	GPR98	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000164199		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0	62	0	G	NM_032119		90281288	1			no_errors	ENST00000405460	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.997	T	T	90281288	G	T	90281288	3	4	135	1	0	0	0	0	1	0	0	0	6748	1174	41	3	18439	3	GPR98	5	90281288	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	51338328	90281288	90633972	56	34703											
FER	2241	genome.wustl.edu	37	chr5	108516448	108516448	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgtcttactgtaacctagGgaccttgctgcaagaaactg	10	12	10	9	0	1	1	0	0	1	1	1	2	1	2	2	1	5	3	2	1	5	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:108516448G>T	ENST00000281092.4	+	18	2433	c.2049G>T	c.(2047-2049)agG>agT	p.R683S	FER_ENST00000438717.2_Splice_Site_p.R508S	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	683	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGTAACCTAGGGACCTTGCTG	0.373																																					Colon(146;1051 1799 9836 27344 47401)												0													118	115	116					5																	108516448		2202	4300	6502	SO:0001630	splice_region_variant	0			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.2049-1G>T	5.37:g.108516448G>T			B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom	p.R683S	ENST00000281092.4	37	c.2049	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809114	0.70797	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.88431	-2.38;-2.38	5.24	5.24	0.73138	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	0.96147	0.8744	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97166	0.9841	9	.	.	.	.	14.1023	0.65065	0.0744:0.0:0.9256:0.0	.	683	P16591	FER_HUMAN	S	683;508	ENSP00000281092:R683S;ENSP00000394297:R508S	.	R	+	3	2	FER	108544347	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.972000	0.56838	2.434000	0.82447	0.650000	0.86243	AGG	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000151422		0.373	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1		0	105	0	G	NM_005246	Missense_Mutation	108516448	1			no_errors	ENST00000281092	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	108516448	G	T	108516448	5	4	135	1	0	0	0	0	0	0	1	0	5835	1246	43	3	2111	3	FER	5	108516448	Splice_Site	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	18235160	108516448	72398812	57	34704											
ADAMTS19	171019	genome.wustl.edu	37	chr5	129039941	129039941	+	Frame_Shift_Del	DEL	A	A	-																															ttatcttccagtgttcagtcAagtgtggcaaaggcatacgt																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:129039941delA	ENST00000274487.4	+	21	3296	c.3151delA	c.(3151-3153)aagfs	p.K1051fs	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1051	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGTTCAGTCAAGTGTGGCAA	0.433																																																	0													216	198	204					5																	129039941		2203	4300	6503	SO:0001589	frameshift_variant	0			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.3151delA	5.37:g.129039941delA	ENSP00000274487:p.Lys1051fs			Frame_Shift_Del	DEL	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K1051fs	ENST00000274487.4	37	c.3151	CCDS4146.1	5																																																																																			ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145808		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2		0	60	0	A	NM_133638		129039941	1	tier1		no_errors	ENST00000274487	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	0.999	-	-	129039941	A	-	129039941	7	5	135	1	0	1	0	1	0	0	0	0	264	131	5	0	3233	0	ADAMTS19	5	129039941	Frame_Shift_Del	DEL	A	TCGA-LN-A9FR-01A-11D-A387-09	20523493	129039941	51875319	58	34705											
PKD2L2	27039	genome.wustl.edu	37	chr5	137230250	137230250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgttatggcaaatataCttctgcaaatgaagacctct	14	13	7	7	0	2	3	0	2	2	1	2	3	2	3	1	1	2	3	1	1	7	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:137230250C>T	ENST00000508883.1	+	4	502	c.476C>T	c.(475-477)aCt>aTt	p.T159I	PKD2L2_ENST00000290431.5_Missense_Mutation_p.T159I|PKD2L2_ENST00000508638.1_Missense_Mutation_p.T159I|PKD2L2_ENST00000502810.1_Missense_Mutation_p.T159I|PKD2L2_ENST00000350250.4_Missense_Mutation_p.T125I			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	159					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)			GGCAAATATACTTCTGCAAAT	0.343																																																	0													80	78	78					5																	137230250		1832	4081	5913	SO:0001583	missense	0			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.476C>T	5.37:g.137230250C>T	ENSP00000424725:p.Thr159Ile		A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	p.T159I	ENST00000508883.1	37	c.476		5	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116306	0.37339	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431;ENST00000511176	T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.62	4.7	0.59300	Polycystin cation channel, PKD1/PKD2 (1);	0.178234	0.38381	N	0.001703	T	0.77598	0.4154	L	0.52573	1.65	0.09310	N	1	D;D;D	0.71674	0.965;0.998;0.985	P;D;P	0.68039	0.82;0.955;0.827	T	0.69011	-0.5258	10	0.87932	D	0	-12.9354	11.2334	0.48925	0.1163:0.6472:0.2364:0.0	.	159;159;159	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	I	69;125;159;159;159;159;69	ENSP00000424885:T69I;ENSP00000344177:T125I;ENSP00000423382:T159I;ENSP00000425513:T159I;ENSP00000424725:T159I;ENSP00000290431:T159I;ENSP00000423926:T69I	ENSP00000290431:T159I	T	+	2	0	PKD2L2	137258149	0.000000	0.05858	0.278000	0.24718	0.412000	0.31113	1.054000	0.30455	2.634000	0.89283	0.591000	0.81541	ACT	PKD2L2	-	pfam_PKD1_2_channel	ENSG00000078795		0.343	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	PKD2L2	HGNC	protein_coding	OTTHUMT00000372521.1	-	0	85	0	C	NM_014386		137230250	1	tier1	-	no_errors	ENST00000508883	ensembl	human	known	74_37	missense	30.30	23	10	SNP	0.002	T	T	137230250	C	T	137230250	3	4	135	1	0	0	0	0	1	0	0	0	12007	565	20	3	490	3	PKD2L2	5	137230250	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	8190309	137230250	43685010	59	34706											
PCDHA7	56141	genome.wustl.edu	37	chr5	140215472	140215472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagctgcgggtgggcgagCgcgcgctgtcgagctacgtg	4	7	20	10	7	0	0	0	0	0	0	1	3	0	1	0	3	5	3	0	3	1	1			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:140215472C>A	ENST00000525929.1	+	1	1504	c.1504C>A	c.(1504-1506)Cgc>Agc	p.R502S	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R502S|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGCGAGCGCGCGCTGTC	0.682																																					NSCLC(160;258 2013 5070 22440 28951)												0													63	67	65					5																	140215472		2203	4297	6500	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1504C>A	5.37:g.140215472C>A	ENSP00000436426:p.Arg502Ser		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R502S	ENST00000525929.1	37	c.1504	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076164	0.36662	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01613	4.73;4.73	4.01	3.11	0.35812	Cadherin (4);Cadherin-like (1);	0.000000	0.31797	U	0.007047	T	0.03053	0.0090	N	0.10760	0.04	0.22156	N	0.999323	P;D	0.64830	0.766;0.994	P;D	0.72982	0.591;0.979	T	0.48234	-0.9053	10	0.49607	T	0.09	.	11.0894	0.48106	0.3367:0.6633:0.0:0.0	.	502;502	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	S	502	ENSP00000436426:R502S;ENSP00000367365:R502S	ENSP00000367365:R502S	R	+	1	0	PCDHA7	140195656	0.000000	0.05858	0.991000	0.47740	0.317000	0.28152	-0.386000	0.07370	0.764000	0.33197	0.306000	0.20318	CGC	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204963		0.682	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0	168	0	C	NM_018910		140215472	1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	37.68	43	26	SNP	0.859	A	A	140215472	C	A	140215472	3	1	135	1	0	0	0	0	1	0	0	0	11568	768	27	2	1506	2	PCDHA7	5	140215472	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	2985222	140215472	40699788	60	34707											
HIST1H4H	8365	genome.wustl.edu	37	chr6	26285573	26285573	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacaccacgagtctcctcaTagataaggccagaaattcgc	14	7	8	12	2	2	2	1	0	1	2	4	4	2	2	3	1	1	0	3	1	4	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:26285573T>C	ENST00000377727.1	-	1	164	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	HIST1H4H_ENST00000289352.1_Missense_Mutation_p.Y52C	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	52					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)			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						AGTCTCCTCATAGATAAGGCC	0.542										HNSCC(76;0.23)																																							0													154	132	139					6																	26285573		2203	4300	6503	SO:0001583	missense	0			X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"Histones / Replication-dependent"	4788	protein-coding gene	gene with protein product		602828	"H4 histone family, member H", "histone 1, H4h"	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.155A>G	6.37:g.26285573T>C	ENSP00000366956:p.Tyr52Cys		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.Y52C	ENST00000377727.1	37	c.155	CCDS4604.1	6	.	.	.	.	.	.	.	.	.	.	.	15.74	2.923423	0.52653	.	.	ENSG00000158406	ENST00000289352;ENST00000377727	T;T	0.68624	-0.34;-0.34	4.4	4.4	0.53042	.	0.000000	0.48767	U	0.000164	T	0.68531	0.3011	.	.	.	0.43394	D	0.995519	.	.	.	.	.	.	T	0.74318	-0.3704	7	0.87932	D	0	.	11.8938	0.52646	0.0:0.0:0.0:1.0	.	.	.	.	C	52	ENSP00000289352:Y52C;ENSP00000366956:Y52C	ENSP00000289352:Y52C	Y	-	2	0	HIST1H4H	26393552	1.000000	0.71417	0.976000	0.42696	0.026000	0.11368	7.920000	0.87521	1.770000	0.52166	0.402000	0.26972	TAT	HIST1H4H	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000158406		0.542	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4H	HGNC	protein_coding	OTTHUMT00000040119.1	-	0	62	0	T	NM_003543		26285573	-1	tier1	-	no_errors	ENST00000289352	ensembl	human	known	74_37	missense	34.62	34	18	SNP	1.000	C	C	26285573	T	C	26285573	3	2	135	1	0	0	0	0	1	0	0	0	7199	1406	49	4	160	4	HIST1H4H	6	26285573	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09		26285573	144829494	61	34708											
TNXB	7148	genome.wustl.edu	37	chr6	32014070	32014071	+	Missense_Mutation	DNP	GG	GG	CT																															gtgactgtgcgctggtctgcGgccacaggcactgccctggg																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:32014070_32014071GG>CT	ENST00000375244.3	-	31	10688_10689	c.10487_10488CC>AG	c.(10486-10488)gCC>gAG	p.A3496E	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Missense_Mutation_p.A3494E			P22105	TENX_HUMAN	tenascin XB	3541	Fibronectin type-III 27. {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						GCTGGTCTGCGGCCACAGGCAC	0.644																																																	0																																										SO:0001583	missense	0			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.10487_10488delinsCT	6.37:g.32014070_32014071delinsCT	ENSP00000364393:p.Ala3496Glu		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent|Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.A3494|p.A3494D	ENST00000375244.3	37	c.10482|c.10481		6																																																																																			TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.644	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	-	0	84	0	G	NM_019105		32014070|32014071	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	silent|missense	33.33	28	14	SNP	0.071|0.245	C|T	CT	32014071	GG	CT	32014070	3	2	135	1	0	0	0	0	1	0	0	0	16393	1103	39	5	4287	5	TNXB	6	32014070	Missense_Mutation	DNP	GG	TCGA-LN-A9FR-01A-11D-A387-09	5728497	32014070	139100997	62	34709											
ITPR3	3710	genome.wustl.edu	37	chr6	33659405	33659405	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctccagccagccccctgggGatgccacatggagctgctgc	6	6	12	17	0	0	0	0	0	0	0	1	2	1	2	6	3	6	2	6	3	0	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:33659405G>C	ENST00000374316.5	+	54	8299	c.7239G>C	c.(7237-7239)ggG>ggC	p.G2413G	ITPR3_ENST00000605930.1_Silent_p.G2413G			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2413					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)	GCCCCCTGGGGATGCCACATG	0.602																																																	0													75	63	67					6																	33659405		2203	4300	6503	SO:0001819	synonymous_variant	0			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.7239G>C	6.37:g.33659405G>C			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.G2413	ENST00000374316.5	37	c.7239	CCDS4783.1	6																																																																																			ITPR3	-	pfam_Ion_trans_dom	ENSG00000096433		0.602	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2		0	34	0	G	NM_002224		33659405	1			no_errors	ENST00000374316	ensembl	human	known	74_37	silent	13.64	19	3	SNP	1.000	C	C	33659405	G	C	33659405	2	2	135	1	0	0	0	0	0	0	0	1	7949	1161	41	5		5	ITPR3	6	33659405	Silent	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	1645335	33659405	137455662	63	34710											
CUL7	9820	genome.wustl.edu	37	chr6	43016265	43016265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gaccataaccctccaccagaCgctgcaggggagtgttggga	10	6	13	12	1	0	1	0	0	0	1	1	4	1	3	4	3	2	3	4	3	1	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:43016265C>T	ENST00000265348.3	-	8	1953	c.1868G>A	c.(1867-1869)cGt>cAt	p.R623H	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.R707H			Q14999	CUL7_HUMAN	cullin 7	623					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)			CTCCACCAGACGCTGCAGGGG	0.547																																																	0													50	53	52					6																	43016265		2203	4300	6503	SO:0001583	missense	0			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.1868G>A	6.37:g.43016265C>T	ENSP00000265348:p.Arg623His		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R707H	ENST00000265348.3	37	c.2120	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449516	0.26074	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79940	-1.31;-1.32	5.35	-10.7	0.00240	.	2.736220	0.00817	N	0.001544	T	0.47728	0.1461	L	0.40543	1.245	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.001	T	0.48198	-0.9056	10	0.37606	T	0.19	-13.1788	10.1421	0.42740	0.0:0.3418:0.1422:0.516	.	707;623	F5H0L1;Q14999	.;CUL7_HUMAN	H	623;707	ENSP00000265348:R623H;ENSP00000438788:R707H	ENSP00000265348:R623H	R	-	2	0	CUL7	43124243	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-3.348000	0.00503	-3.289000	0.00195	-1.731000	0.00696	CGT	CUL7	-	NULL	ENSG00000044090		0.547	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1		0	53	0	C	NM_014780		43016265	-1			no_errors	ENST00000535468	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T	T	43016265	C	T	43016265	3	4	135	1	0	0	0	0	1	0	0	0	4069	536	19	1	3304	1	CUL7	6	43016265	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	9356860	43016265	128098802	64	34711											
GCLC	2729	genome.wustl.edu	37	chr6	53373988	53373988	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttacaacaattggacagaTagtagccaactgatcataaa	18	9	6	8	0	1	2	1	1	0	1	1	3	1	3	1	1	4	1	1	1	8	5			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:53373988T>C	ENST00000229416.6	-	7	1297	c.814A>G	c.(814-816)Atc>Gtc	p.I272V	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	272					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)	ATTGGACAGATAGTAGCCAAC	0.343																																																	0													91	87	89					6																	53373988		2203	4300	6503	SO:0001583	missense	0			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.814A>G	6.37:g.53373988T>C	ENSP00000229416:p.Ile272Val		Q14399	Missense_Mutation	SNP	pfam_GCS	p.I272V	ENST00000229416.6	37	c.814	CCDS4952.1	6	.	.	.	.	.	.	.	.	.	.	T	10.88	1.475065	0.26511	.	.	ENSG00000001084	ENST00000229416	T	0.73575	-0.76	5.17	5.17	0.71159	.	0.094022	0.64402	D	0.000001	T	0.41465	0.1160	N	0.11201	0.11	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.37731	-0.9693	10	0.27785	T	0.31	.	15.3066	0.73995	0.0:0.0:0.0:1.0	.	272	P48506	GSH1_HUMAN	V	272	ENSP00000229416:I272V	ENSP00000229416:I272V	I	-	1	0	GCLC	53481947	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	4.032000	0.57274	2.085000	0.62840	0.455000	0.32223	ATC	GCLC	-	pfam_GCS	ENSG00000001084		0.343	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCLC	HGNC	protein_coding	OTTHUMT00000359710.2	-	0	46	0	T			53373988	-1	tier1	-	no_errors	ENST00000229416	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.997	C	C	53373988	T	C	53373988	3	2	135	1	0	0	0	0	1	0	0	0	6320	1406	49	4	1139	4	GCLC	6	53373988	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	10357723	53373988	117741079	65	34712											
CD109	135228	genome.wustl.edu	37	chr6	74475877	74475877	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgagctacagttgaaGgtgccgtctgtttcccatca	8	12	10	11	1	2	2	1	2	1	0	4	2	4	2	3	1	3	3	3	1	2	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:74475877G>T	ENST00000287097.5	+	11	1444	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N	CD109_ENST00000422508.2_Splice_Site_p.K367N|CD109_ENST00000437994.2_Splice_Site_p.K444N			Q6YHK3	CD109_HUMAN	CD109 molecule	444					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						TACAGTTGAAGGTGCCGTCTG	0.413																																																	0													55	49	51					6																	74475877		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1332+1G>T	6.37:g.74475877G>T			A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.K444N	ENST00000287097.5	37	c.1332	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814016	0.50527	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23147	1.93;2.13;1.92	4.54	4.54	0.55810	.	0.506409	0.21186	N	0.078731	T	0.09247	0.0228	N	0.19112	0.55	0.43499	D	0.995745	P;P;B;B	0.43094	0.799;0.496;0.008;0.077	B;B;B;B	0.39531	0.302;0.218;0.062;0.045	T	0.14090	-1.0485	10	0.20046	T	0.44	.	16.5716	0.84613	0.0:0.0:1.0:0.0	.	367;444;444;444	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	N	444;367;444	ENSP00000388062:K444N;ENSP00000404475:K367N;ENSP00000287097:K444N	ENSP00000287097:K444N	K	+	3	2	CD109	74532598	1.000000	0.71417	0.996000	0.52242	0.712000	0.41017	5.465000	0.66725	2.499000	0.84300	0.462000	0.41574	AAG	CD109	-	NULL	ENSG00000156535		0.413	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3		0	54	0	G	NM_133493	Missense_Mutation	74475877	1			no_errors	ENST00000287097	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	74475877	G	T	74475877	5	4	135	1	0	0	0	0	0	0	1	0	2970	1014	35	3	1374	3	CD109	6	74475877	Splice_Site	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	21101889	74475877	96639190	66	34713											
SYTL3	94120	genome.wustl.edu	37	chr6	159086477	159086477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtggaaaggagcgaagaacaCggactgggagcacaaagaga	17	2	16	6	2	0	2	0	0	0	2	0	8	0	6	0	4	3	1	0	4	4	0	rs144600059		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:159086477C>T	ENST00000297239.9	+	4	355	c.161C>T	c.(160-162)aCg>aTg	p.T54M	SYTL3_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Missense_Mutation_p.T54M			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	54	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.T54M(1)		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)		GCGAAGAACACGGACTGGGAG	0.597																																																	1	Substitution - Missense(1)	pancreas(1)						C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	35	32	33		161,161,161,161	0.7	0	6	dbSNP_134	33	2,8596	1.2+/-3.3	0,2,4297	no	missense,missense,missense,missense	SYTL3	NM_001009991.3,NM_001242384.1,NM_001242394.1,NM_001242395.1	81,81,81,81	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	54/543,54/611,54/611,54/543	159086477	2,13002	2203	4299	6502	SO:0001583	missense	0			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.161C>T	6.37:g.159086477C>T	ENSP00000297239:p.Thr54Met		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.T54M	ENST00000297239.9	37	c.161	CCDS56458.1	6	.	.	.	.	.	.	.	.	.	.	C	7.289	0.610730	0.14066	0.0	2.33E-4	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239	T;T	0.77229	-1.08;-1.08	5.8	0.657	0.17850	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	1.423770	0.03936	N	0.286136	T	0.64046	0.2563	L	0.51422	1.61	0.09310	N	0.999993	D;D	0.60575	0.965;0.988	B;P	0.48815	0.28;0.591	T	0.53767	-0.8392	10	0.56958	D	0.05	-17.9869	7.3602	0.26742	0.0:0.5576:0.1093:0.333	.	54;54	Q4VX76;Q4VX76-2	SYTL3_HUMAN;.	M	54	ENSP00000353631:T54M;ENSP00000297239:T54M	ENSP00000297239:T54M	T	+	2	0	SYTL3	159006465	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.177000	0.10690	0.561000	0.74099	ACG	SYTL3	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000164674		0.597	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	HGNC	protein_coding	OTTHUMT00000042876.1		0	38	0	C			159086477	1			no_errors	ENST00000297239	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.000	T	T	159086477	C	T	159086477	3	4	135	1	0	0	0	0	1	0	0	0	15531	536	19	1	167	1	SYTL3	6	159086477	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	84610600	159086477	12028590	67	34714											
CDCA7L	55536	genome.wustl.edu	37	chr7	21956476	21956477	+	Frame_Shift_Ins	INS	-	-	G																															acaaactcttcatcatcactINSgggggcgttaaagatgtcag																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:21956476_21956477insG	ENST00000406877.3	-	2	339_340	c.60_61insC	c.(58-63)cccagtfs	p.S21fs	CDCA7L_ENST00000373934.4_Frame_Shift_Ins_p.S21fs|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	21					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCATCATCACTGGGGGCGTTAA	0.455																																																	0																																										SO:0001589	frameshift_variant	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.61dupC	7.37:g.21956481_21956481dupG	ENSP00000383986:p.Ser21fs		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Frame_Shift_Ins	INS	pfam_Znf-4CXXC_R1	p.S20fs	ENST00000406877.3	37	c.61_60	CCDS5374.1	7																																																																																			CDCA7L	-	NULL	ENSG00000164649		0.455	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4		0	54	0	-	NM_018719		21956477	-1	tier1		no_errors	ENST00000406877	ensembl	human	known	74_37	frame_shift_ins	6.90	27	2	INS	1.000:1.000	G	G	21956477	-	G	21956476	7	5	135	1	0	1	1	0	0	0	0	0	3098	1580	55	0	1339	0	CDCA7L	7	21956476	Frame_Shift_Ins	INS	-	TCGA-LN-A9FR-01A-11D-A387-09		21956476	137182187	68	34715											
BBS9	27241	genome.wustl.edu	37	chr7	33423379	33423379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaaaacagggagtcaaaGattttgcatgttctttttcg	12	15	9	5	1	2	2	1	1	1	1	3	3	2	3	0	1	2	2	0	1	3	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:33423379G>A	ENST00000242067.6	+	18	2412	c.1891G>A	c.(1891-1893)Gat>Aat	p.D631N	BBS9_ENST00000355070.2_Missense_Mutation_p.D626N|BBS9_ENST00000350941.3_Missense_Mutation_p.D591N|BBS9_ENST00000354265.4_Missense_Mutation_p.D596N|BBS9_ENST00000396127.2_Missense_Mutation_p.D596N	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	631					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)			GGGAGTCAAAGATTTTGCATG	0.348									Bardet-Biedl syndrome																																								0													72	70	71					7																	33423379		2201	4299	6500	SO:0001583	missense	0	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.1891G>A	7.37:g.33423379G>A	ENSP00000242067:p.Asp631Asn		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.D631N	ENST00000242067.6	37	c.1891	CCDS43566.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.188872|5.188872	0.94923|0.94923	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132|ENST00000434373	T;T;T;T;T|.	0.14022|.	2.54;2.54;2.54;2.54;2.54|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70701|0.70701	0.3254|0.3254	L|L	0.46947|0.46947	1.48|1.48	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.63046|.	0.992;0.992;0.992;0.992;0.961|.	D;D;D;D;P|.	0.66979|.	0.948;0.948;0.948;0.948;0.835|.	T|T	0.63945|0.63945	-0.6522|-0.6522	10|5	0.28530|.	T|.	0.3|.	-23.6471|-23.6471	20.6397|20.6397	0.99537|0.99537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	631;591;626;596;631|.	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.	.;.;.;.;PTHB1_HUMAN|.	N|K	631;591;596;626;596;631|197	ENSP00000242067:D631N;ENSP00000313122:D591N;ENSP00000379433:D596N;ENSP00000347182:D626N;ENSP00000346214:D596N|.	ENSP00000242067:D631N|.	D|R	+|+	1|2	0|0	BBS9|BBS9	33389904|33389904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.191000|9.191000	0.94940|0.94940	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GAT|AGA	BBS9	-	NULL	ENSG00000122507		0.348	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	-	0	98	0	G			33423379	1	tier1	-	no_errors	ENST00000242067	ensembl	human	known	74_37	missense	10.94	57	7	SNP	1.000	A	A	33423379	G	A	33423379	3	1	135	1	0	0	0	0	1	0	0	0	1343	942	33	3	1957	3	BBS9	7	33423379	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	11466903	33423379	125715284	69	34716											
EEPD1	80820	genome.wustl.edu	37	chr7	36324326	36324326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tgcaggattcctatgggacgCggctgccggcatggagctga	7	8	16	10	3	0	1	0	1	0	0	1	4	1	4	2	5	3	4	2	5	1	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:36324326C>T	ENST00000242108.4	+	5	1791	c.1073C>T	c.(1072-1074)gCg>gTg	p.A358V	EEPD1_ENST00000534978.1_Missense_Mutation_p.A358V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	358			A -> S (in dbSNP:rs3815682).		DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CTATGGGACGCGGCTGCCGGC	0.657																																																	0													82	91	88					7																	36324326		2203	4300	6503	SO:0001583	missense	0			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1073C>T	7.37:g.36324326C>T	ENSP00000242108:p.Ala358Val		Q96K64|Q9C0F7	Missense_Mutation	SNP	pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH	p.A358V	ENST00000242108.4	37	c.1073	CCDS34619.1	7	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070873	0.36566	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.95103	-3.61;-3.61	4.75	4.75	0.60458	Endonuclease/exonuclease/phosphatase (2);	1.063010	0.07220	N	0.860795	D	0.84361	0.5455	N	0.00823	-1.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66118	-0.6003	10	0.18276	T	0.48	-0.6984	15.9503	0.79830	0.0:1.0:0.0:0.0	.	358	Q7L9B9	EEPD1_HUMAN	V	358	ENSP00000242108:A358V;ENSP00000442692:A358V	ENSP00000242108:A358V	A	+	2	0	EEPD1	36290851	0.001000	0.12720	0.006000	0.13384	0.015000	0.08874	1.238000	0.32707	2.352000	0.79861	0.462000	0.41574	GCG	EEPD1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000122547		0.657	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	HGNC	protein_coding	OTTHUMT00000337602.1		0	84	0	C	NM_030636		36324326	1			no_errors	ENST00000242108	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.021	T	T	36324326	C	T	36324326	3	4	135	1	0	0	0	0	1	0	0	0	4946	768	27	1	1087	1	EEPD1	7	36324326	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	2900947	36324326	122814337	70	34717											
ZNF3	7551	genome.wustl.edu	37	chr7	99672873	99672873	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacacagctacatcctcaaaGgttaccagctcctgaaacaa	15	8	5	13	0	1	1	1	1	0	0	3	1	3	1	3	1	6	3	3	1	6	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:99672873G>A	ENST00000424697.1	-	5	462	c.156C>T	c.(154-156)acC>acT	p.T52T	ZNF3_ENST00000413658.2_Silent_p.T52T|ZNF3_ENST00000303915.6_Silent_p.T52T|ZNF3_ENST00000299667.4_Silent_p.T52T	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	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			CATCCTCAAAGGTTACCAGCT	0.488																																																	0													112	110	111					7																	99672873		2188	4291	6479	SO:0001819	synonymous_variant	0			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.156C>T	7.37:g.99672873G>A			D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T52	ENST00000424697.1	37	c.156	CCDS43619.1	7																																																																																			ZNF3	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000166526		0.488	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF3	HGNC	protein_coding	OTTHUMT00000336247.3	-	0	45	0	G	NM_017715		99672873	-1	tier1	-	no_errors	ENST00000299667	ensembl	human	known	74_37	silent	31.25	11	5	SNP	0.910	A	A	99672873	G	A	99672873	2	1	135	1	0	0	0	0	0	0	0	1	17877	987	35	3		3	ZNF3	7	99672873	Silent	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	63348547	99672873	59465790	71	34718											
LRRN3	54674	genome.wustl.edu	37	chr7	110763077	110763077	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagactaacaatattgcaaaAattgaatactccacagactt	18	10	4	9	0	0	3	0	1	0	2	1	3	1	3	1	0	3	1	1	0	7	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:110763077A>T	ENST00000422987.3	+	2	1080	c.249A>T	c.(247-249)aaA>aaT	p.K83N	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.K83N|LRRN3_ENST00000308478.5_Missense_Mutation_p.K83N|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	83					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATATTGCAAAAATTGAATACT	0.358																																																	0													80	75	77					7																	110763077		2203	4300	6503	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.249A>T	7.37:g.110763077A>T	ENSP00000412417:p.Lys83Asn		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K83N	ENST00000422987.3	37	c.249	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	A	11.57	1.677705	0.29783	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	6.16	-0.688	0.11317	.	0.492146	0.20200	N	0.097108	T	0.14614	0.0353	L	0.53249	1.67	0.33575	D	0.599123	B	0.02656	0.0	B	0.04013	0.001	T	0.09574	-1.0668	10	0.31617	T	0.26	.	2.7568	0.05295	0.5436:0.2275:0.12:0.109	.	83	Q9H3W5	LRRN3_HUMAN	N	83	ENSP00000312001:K83N;ENSP00000397312:K83N;ENSP00000412417:K83N;ENSP00000407927:K83N	ENSP00000312001:K83N	K	+	3	2	LRRN3	110550313	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	1.170000	0.31883	-0.323000	0.08602	0.528000	0.53228	AAA	LRRN3	-	NULL	ENSG00000173114		0.358	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	-	0	47	0	A	NM_018334		110763077	1	tier1	-	no_errors	ENST00000308478	ensembl	human	known	74_37	missense	42.11	11	8	SNP	0.999	T	T	110763077	A	T	110763077	3	4	135	1	0	0	0	0	1	0	0	0	9071	11	1	5	251	5	LRRN3	7	110763077	Missense_Mutation	SNP	A	TCGA-LN-A9FR-01A-11D-A387-09	11090204	110763077	48375586	72	34719											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113519505	113519505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctgccacacttattttagGgttacccatcttcctttctt	6	17	4	14	0	2	0	0	0	2	0	3	0	3	0	4	1	2	1	4	1	3	7			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:113519505G>T	ENST00000284601.3	-	4	1710	c.1642C>A	c.(1642-1644)Cct>Act	p.P548T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	548					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTATTTTAGGGTTACCCATC	0.408																																																	0													103	95	98					7																	113519505		2203	4300	6503	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1642C>A	7.37:g.113519505G>T	ENSP00000284601:p.Pro548Thr		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.P548T	ENST00000284601.3	37	c.1642	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292020	0.40594	.	.	ENSG00000154415	ENST00000284601	T	0.17213	2.29	6.02	-10.0	0.00425	.	1.389210	0.04459	N	0.374025	T	0.08403	0.0209	L	0.40543	1.245	0.09310	N	1	P	0.39282	0.666	B	0.33339	0.162	T	0.15867	-1.0422	10	0.15952	T	0.53	-0.526	4.4499	0.11616	0.5167:0.1645:0.2366:0.0822	.	548	Q16821	PPR3A_HUMAN	T	548	ENSP00000284601:P548T	ENSP00000284601:P548T	P	-	1	0	PPP1R3A	113306741	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.382000	0.02546	-1.751000	0.01326	-0.140000	0.14226	CCT	PPP1R3A	-	NULL	ENSG00000154415		0.408	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	-	0	64	0	G	NM_002711		113519505	-1	tier1	-	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.000	T	T	113519505	G	T	113519505	3	4	135	1	0	0	0	0	1	0	0	0	12413	1232	43	3	1730	3	PPP1R3A	7	113519505	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	2756428	113519505	45619158	73	34720											
UBN2	254048	genome.wustl.edu	37	chr7	138969300	138969300	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccactgcctcagggtcttcaGtggtaacagccagtgtgcag	8	9	12	12	0	3	0	2	0	1	0	3	0	3	0	3	2	4	2	3	2	1	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:138969300G>T	ENST00000473989.3	+	15	3649	c.3649G>T	c.(3649-3651)Gtg>Ttg	p.V1217L	UBN2_ENST00000288561.8_Missense_Mutation_p.V1134L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1217	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						AGGGTCTTCAGTGGTAACAGC	0.438																																																	0													48	51	50					7																	138969300		1997	4159	6156	SO:0001583	missense	0			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.3649G>T	7.37:g.138969300G>T	ENSP00000418648:p.Val1217Leu		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	NULL	p.V1217L	ENST00000473989.3	37	c.3649	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891698	0.72524	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.32272	1.46;1.5	5.57	5.57	0.84162	.	0.079972	0.52532	D	0.000077	T	0.48750	0.1517	L	0.52573	1.65	0.43982	D	0.996678	P	0.44690	0.841	P	0.58820	0.846	T	0.07790	-1.0754	10	0.27082	T	0.32	-4.0345	19.9133	0.97031	0.0:0.0:1.0:0.0	.	1217	Q6ZU65	UBN2_HUMAN	L	1217;1134	ENSP00000418648:V1217L;ENSP00000288561:V1134L	ENSP00000288561:V1134L	V	+	1	0	UBN2	138619840	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.722000	0.74735	2.777000	0.95525	0.557000	0.71058	GTG	UBN2	-	NULL	ENSG00000157741		0.438	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	HGNC	protein_coding	OTTHUMT00000349272.3	-	0	31	0	G	NM_173569		138969300	1	tier1	-	no_errors	ENST00000473989	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	138969300	G	T	138969300	3	4	135	1	0	0	0	0	1	0	0	0	16942	1029	36	3	3707	3	UBN2	7	138969300	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	25449795	138969300	20169363	74	34721											
BRAF	673	genome.wustl.edu	37	chr7	140481412	140481412	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagactgttccaaatgatcCagatccaattctttgtccca	11	13	6	11	0	1	3	0	1	1	2	5	3	5	3	4	0	0	2	4	0	3	4	rs121913353		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:140481412C>A	ENST00000288602.6	-	11	1456	c.1396G>T	c.(1396-1398)Gga>Tga	p.G466*		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	466	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in melanoma). {ECO:0000269|PubMed:12068308}.|G -> E (in melanoma). {ECO:0000269|PubMed:12068308}.|G -> V (in LNCR). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12460919}.		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.G466R(3)	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)	CCAAATGATCCAGATCCAATT	0.378		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	3	Substitution - Missense(3)	skin(3)											171	147	155					7																	140481412		2203	4300	6503	SO:0001587	stop_gained	0	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.1396G>T	7.37:g.140481412C>A	ENSP00000288602:p.Gly466*		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.G466*	ENST00000288602.6	37	c.1396	CCDS5863.1	7	.	.	.	.	.	.	.	.	.	.	C	40	8.265574	0.98732	.	.	ENSG00000157764	ENST00000288602	.	.	.	5.62	5.62	0.85841	.	0.100477	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8428	0.88720	0.0:1.0:0.0:0.0	.	.	.	.	X	466	.	ENSP00000288602:G466X	G	-	1	0	BRAF	140127881	1.000000	0.71417	0.925000	0.36789	0.988000	0.76386	7.818000	0.86416	2.637000	0.89404	0.585000	0.79938	GGA	BRAF	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000157764		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1		0	65	0	C	NM_004333		140481412	-1			no_errors	ENST00000288602	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	A	A	140481412	C	A	140481412	4	1	135	1	0	0	0	0	0	1	0	0	1500	603	21	3	936	3	BRAF	7	140481412	Nonsense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	1512112	140481412	18657251	75	34722											
CSMD1	64478	genome.wustl.edu	37	chr8	2876139	2876139	+	Frame_Shift_Del	DEL	T	T	-																															acgttccaatcttgttgccaTttgggggaaaggaaaggctt																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr8:2876139delT	ENST00000520002.1	-	53	8447	c.7892delA	c.(7891-7893)aatfs	p.N2631fs	CSMD1_ENST00000537824.1_Frame_Shift_Del_p.N2630fs|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.N2631fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2631	Sushi 17. {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)		CTTGTTGCCATTTGGGGGAAA	0.438																																																	0													128	124	125					8																	2876139		1911	4126	6037	SO:0001589	frameshift_variant	0					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.7892delA	8.37:g.2876139delT	ENSP00000430733:p.Asn2631fs		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.N2631fs	ENST00000520002.1	37	c.7892		8																																																																																			CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0	73	0	T	NM_033225		2876139	-1	tier1		no_errors	ENST00000520002	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.983	-	-	2876139	T	-	2876139	7	5	135	1	0	1	0	1	0	0	0	0	3953	1493	52	0	2881	0	CSMD1	8	2876139	Frame_Shift_Del	DEL	T	TCGA-LN-A9FR-01A-11D-A387-09		2876139	143487883	76	34723											
ZNF703	80139	genome.wustl.edu	37	chr8	37555934	37555936	+	In_Frame_Del	DEL	CGC	CGC	-																															ggggcctcgggcctgggcagCgccgccgccgccgccgccgc																								rs568050040	byFrequency	TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	CGC	CGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr8:37555934_37555936delCGC	ENST00000331569.4	+	2	1744_1746	c.1515_1517delCGC	c.(1513-1518)agcgcc>agc	p.A514del		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	514	Poly-Ala.				adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GCCTGGGCAGcgccgccgccgcc	0.768																																																	0																																										SO:0001651	inframe_deletion	0			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1515_1517delCGC	8.37:g.37555943_37555945delCGC	ENSP00000332325:p.Ala514del		Q5XG76	In_Frame_Del	DEL	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.A509in_frame_del	ENST00000331569.4	37	c.1515_1517	CCDS6094.1	8																																																																																			ZNF703	-	NULL	ENSG00000183779		0.768	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF703	HGNC	protein_coding	OTTHUMT00000376683.2		0	25	0	CGC	NM_025069		37555936	1	tier1		no_errors	ENST00000331569	ensembl	human	known	74_37	in_frame_del	30.00	7	3	DEL	0.974:0.996:0.997	-	-	37555936	CGC	-	37555934	7	5	135	1	0	1	0	1	0	0	0	0	18154	767	27	0	1521	0	ZNF703	8	37555934	In_Frame_Del	DEL	CGC	TCGA-LN-A9FR-01A-11D-A387-09	34679795	37555934	108808088	77	34724											
TRIM55	84675	genome.wustl.edu	37	chr8	67066571	67066571	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgcagctacttctcaggTtagtgatgatgcacttgtgt	8	14	10	9	0	1	2	1	2	1	0	2	2	1	2	1	1	4	4	1	1	2	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr8:67066571T>C	ENST00000315962.4	+	9	1897		c.e9+2		TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000276573.7_Splice_Site	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55						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)			ACTTCTCAGGTTAGTGATGAT	0.542																																																	0													86	79	82					8																	67066571		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1524+2T>C	8.37:g.67066571T>C			B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Splice_Site	SNP	-	e9+2	ENST00000315962.4	37	c.1524+2	CCDS6184.1	8	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135153	0.77662	.	.	ENSG00000147573	ENST00000315962;ENST00000276573	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3603	0.83259	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM55	67229125	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.494000	0.66905	2.260000	0.74910	0.529000	0.55759	.	TRIM55	-	-	ENSG00000147573		0.542	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1	-	0	25	0	T	NM_184085	Intron	67066571	1	tier1	-	no_errors	ENST00000315962	ensembl	human	known	74_37	splice_site	23.08	10	3	SNP	1.000	C	C	67066571	T	C	67066571	5	2	135	1	0	0	0	0	0	0	1	0	16577	1739	60	4	1560	4	TRIM55	8	67066571	Splice_Site	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	29510637	67066571	79297451	78	34725											
KCNB2	9312	genome.wustl.edu	37	chr8	73849090	73849090	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaggaaggctctgtcGgaaacaagctccaacaagtc	12	6	12	11	1	1	0	0	0	1	0	4	2	2	2	2	4	3	2	2	4	5	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr8:73849090G>A	ENST00000523207.1	+	3	2088	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	500					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.S500S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGGCTCTGTCGGAAACAAGCT	0.557																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											107	115	112					8																	73849090		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1500G>A	8.37:g.73849090G>A			Q7Z7D0|Q9BXD3	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.S500	ENST00000523207.1	37	c.1500	CCDS6209.1	8																																																																																			KCNB2	-	pfam_K_chnl_volt-dep_Kv2	ENSG00000182674		0.557	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1		0	43	0	G	NM_004770		73849090	1			no_errors	ENST00000523207	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.236	A	A	73849090	G	A	73849090	2	1	135	1	0	0	0	0	0	0	0	1	8040	1103	39	1		1	KCNB2	8	73849090	Silent	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	6782519	73849090	72514932	79	34726											
ZFHX4	79776	genome.wustl.edu	37	chr8	77775449	77775451	+	In_Frame_Del	DEL	CCT	CCT	-																															agactccaccacctccaccaCctcctcctcctcctcctcct																								rs199874527		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr8:77775449_77775451delCCT	ENST00000521891.2	+	11	9947_9949	c.9499_9501delCCT	c.(9499-9501)cctdel	p.P3173del	ZFHX4_ENST00000518282.1_In_Frame_Del_p.P3147del|ZFHX4_ENST00000050961.6_In_Frame_Del_p.P3124del|ZFHX4_ENST00000455469.2_In_Frame_Del_p.P3128del	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3124					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.P3151H(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)			acctccaccacctcctcctcctc	0.522										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	large_intestine(1)								40,3796		5,30,1883						2.2	1			54	74,7900		1,72,3914	no	coding	ZFHX4	NM_024721.4		6,102,5797	A1A1,A1R,RR		0.928,1.0428,0.9653				114,11696				SO:0001651	inframe_deletion	0				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.9499_9501delCCT	8.37:g.77775458_77775460delCCT	ENSP00000430497:p.Pro3173del		G3V138|Q18PS0|Q6ZN20	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P3170in_frame_del	ENST00000521891.2	37	c.9499_9501	CCDS47878.2	8																																																																																			ZFHX4	-	NULL	ENSG00000091656		0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2		0	50	0	CCT	NM_024721		77775451	1	tier1		no_errors	ENST00000521891	ensembl	human	known	74_37	in_frame_del	11.11	24	3	DEL	1.000:0.995:0.658	-	-	77775451	CCT	-	77775449	7	5	135	1	0	1	0	1	0	0	0	0	17683	507	18	0	9537	0	ZFHX4	8	77775449	In_Frame_Del	DEL	CCT	TCGA-LN-A9FR-01A-11D-A387-09	3926359	77775449	68588573	80	34727											
MGC70857	414919	genome.wustl.edu	37	chr8	145753146	145753146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggttgggtctcaggcgggaGaagaaggtgaccaggaactg	10	6	18	7	2	1	3	1	1	1	2	2	5	1	4	1	6	1	1	1	6	3	1			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr8:145753146G>C	ENST00000524821.1	-	3	446	c.231C>G	c.(229-231)ttC>ttG	p.F77L	LRRC24_ENST00000529415.2_5'Flank|C8orf82_ENST00000313465.5_3'UTR|LRRC24_ENST00000533758.1_5'Flank			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	77										endometrium(1)|urinary_tract(1)	2						TCAGGCGGGAGAAGAAGGTGA	0.687																																																	0													51	65	60					8																	145753146		2188	4279	6467	SO:0001583	missense	0				CCDS34970.1	8q24	2012-04-18			ENSG00000213563	ENSG00000213563			33826	protein-coding gene	gene with protein product						12477932	Standard	NM_001001795		Approved	MGC70857	uc003zdp.1	Q6P1X6	OTTHUMG00000165181	ENST00000524821.1:c.231C>G	8.37:g.145753146G>C	ENSP00000436621:p.Phe77Leu		Q6GMR2|Q6P2Q7	Missense_Mutation	SNP	NULL	p.F77L	ENST00000524821.1	37	c.231	CCDS34970.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.333468|4.333468	0.81801|0.81801	.|.	.|.	ENSG00000213563|ENSG00000213563	ENST00000524821|ENST00000532827	.|.	.|.	.|.	3.97|3.97	1.15|1.15	0.20763|0.20763	.|.	0.000000|.	0.64402|.	U|.	0.000020|.	T|T	0.63546|0.63546	0.2520|0.2520	M|M	0.76938|0.76938	2.355|2.355	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.996|.	D;D|.	0.83275|.	0.996;0.99|.	T|T	0.58323|0.58323	-0.7656|-0.7656	9|5	0.72032|.	D|.	0.01|.	-15.0063|-15.0063	6.4238|6.4238	0.21758|0.21758	0.3042:0.0:0.6958:0.0|0.3042:0.0:0.6958:0.0	.|.	69;77|.	Q6P1X6-2;Q6P1X6|.	.;CH082_HUMAN|.	L|V	77|122	.|.	ENSP00000436621:F77L|.	F|L	-|-	3|1	2|0	C8orf82|C8orf82	145723954|145723954	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	3.895000|3.895000	0.56258|0.56258	0.038000|0.038000	0.15604|0.15604	0.563000|0.563000	0.77884|0.77884	TTC|CTC	C8orf82	-	NULL	ENSG00000213563		0.687	C8orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf82	HGNC	protein_coding	OTTHUMT00000382503.1	-	0	82	0	G	NM_001001795		145753146	-1	tier1	-	no_errors	ENST00000524821	ensembl	human	known	74_37	missense	20.78	61	16	SNP	1.000	C	C	145753146	G	C	145753146	3	2	135	1	0	0	0	0	1	0	0	0	9591	933	33	5	423	5	MGC70857	8	145753146	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	67977697	145753146	610876	81	34728											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18721596	18721596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcctgctgaggagaacCtgtgcgtgaccagccgccgg	7	5	17	12	3	0	3	0	2	0	1	0	5	0	4	5	3	5	1	5	3	1	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr9:18721596C>G	ENST00000380548.4	+	15	2278	c.1939C>G	c.(1939-1941)Ctg>Gtg	p.L647V	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L647V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	647	TSP type-1 5. {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)		TGAGGAGAACCTGTGCGTGAC	0.597																																																	0													87	84	85					9																	18721596		2203	4300	6503	SO:0001583	missense	0			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.1939C>G	9.37:g.18721596C>G	ENSP00000369921:p.Leu647Val		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.L647V	ENST00000380548.4	37	c.1939	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497103	0.64186	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	T;T	0.61510	0.1;0.1	5.86	4.94	0.65067	.	1.523590	0.08080	U	1.000000	T	0.72423	0.3458	M	0.84326	2.69	0.80722	D	1	D	0.69078	0.997	P	0.55824	0.785	T	0.63060	-0.6721	10	0.30078	T	0.28	.	10.084	0.42406	0.0:0.8289:0.0:0.1711	.	647	Q8N6G6	ATL1_HUMAN	V	647	ENSP00000369921:L647V;ENSP00000276935:L647V	ENSP00000276935:L647V	L	+	1	2	ADAMTSL1	18711596	0.983000	0.35010	1.000000	0.80357	0.994000	0.84299	1.257000	0.32932	1.395000	0.46643	0.650000	0.86243	CTG	ADAMTSL1	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.597	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0	69	0	C			18721596	1	tier1	-	no_errors	ENST00000380548	ensembl	human	novel	74_37	missense	33.33	16	8	SNP	1.000	G	G	18721596	C	G	18721596	3	3	135	1	0	0	0	0	1	0	0	0	274	680	24	5	2001	5	ADAMTSL1	9	18721596	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09		18721596	122491835	82	34729											
AKNA	80709	genome.wustl.edu	37	chr9	117138828	117138828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatagggtgggcaggaggcGtgtcctttgccagggctgct	5	10	18	8	1	0	1	0	1	0	0	1	2	1	2	2	5	2	3	2	5	1	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr9:117138828G>A	ENST00000307564.4	-	3	1420	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	AKNA_ENST00000374088.3_Missense_Mutation_p.T420M|AKNA_ENST00000374075.5_Missense_Mutation_p.T339M|AKNA_ENST00000312033.3_Missense_Mutation_p.T420M|AKNA_ENST00000223791.3_De_novo_Start_OutOfFrame	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	420					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T420M(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCAGGAGGCGTGTCCTTTGC	0.592																																																	1	Substitution - Missense(1)	breast(1)											77	76	76					9																	117138828		2203	4300	6503	SO:0001583	missense	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1259C>T	9.37:g.117138828G>A	ENSP00000303769:p.Thr420Met		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.T420M	ENST00000307564.4	37	c.1259	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	G	1.187	-0.636408	0.03557	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.31510	2.71;2.71;2.71;1.49	4.36	2.52	0.30459	.	0.991744	0.08188	N	0.984416	T	0.16300	0.0392	N	0.08118	0	0.09310	N	1	B;B;B	0.22276	0.019;0.066;0.067	B;B;B	0.11329	0.006;0.003;0.006	T	0.24693	-1.0153	10	0.45353	T	0.12	0.238	7.1889	0.25814	0.2835:0.0:0.7165:0.0	.	420;420;339	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	M	420;261;420;339;420;420	ENSP00000303769:T420M;ENSP00000363201:T420M;ENSP00000363188:T339M;ENSP00000309222:T420M	ENSP00000303769:T420M	T	-	2	0	AKNA	116178649	0.002000	0.14202	0.002000	0.10522	0.003000	0.03518	1.197000	0.32211	0.472000	0.27344	-0.254000	0.11334	ACG	AKNA	-	NULL	ENSG00000106948		0.592	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2		0	72	0	G	NM_030767		117138828	-1			no_errors	ENST00000307564	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.000	A	A	117138828	G	A	117138828	3	1	135	1	0	0	0	0	1	0	0	0	463	1145	40	1	3140	1	AKNA	9	117138828	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	98417232	117138828	24074603	83	34730											
NOTCH1	4851	genome.wustl.edu	37	chr9	139413049	139413049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggcactcacctgtgcGgccatggggacactcgcagt	8	7	12	14	2	2	0	2	0	0	0	3	1	2	1	2	4	1	2	2	4	1	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr9:139413049G>A	ENST00000277541.6	-	6	1168	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	365	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R365C(6)		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)		TCACCTGTGCGGCCATGGGGA	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	6	Substitution - Missense(6)	upper_aerodigestive_tract(4)|lung(2)											22	25	24					9																	139413049		2180	4284	6464	SO:0001583	missense	0			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.1093C>T	9.37:g.139413049G>A	ENSP00000277541:p.Arg365Cys		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.R365C	ENST00000277541.6	37	c.1093	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487435	0.84854	.	.	ENSG00000148400	ENST00000277541	D	0.82344	-1.6	4.88	4.88	0.63580	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87079	0.6088	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87734	0.2581	10	0.51188	T	0.08	.	16.5755	0.84635	0.0:0.0:1.0:0.0	.	365	P46531	NOTC1_HUMAN	C	365	ENSP00000277541:R365C	ENSP00000277541:R365C	R	-	1	0	NOTCH1	138532870	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.451000	0.52964	2.257000	0.74773	0.561000	0.74099	CGC	NOTCH1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	70	0	G	NM_017617		139413049	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	43.48	13	10	SNP	1.000	A	A	139413049	G	A	139413049	3	1	135	1	0	0	0	0	1	0	0	0	10586	1116	39	1	6690	1	NOTCH1	9	139413049	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	22274221	139413049	1800382	84	34731											
MAMDC4	158056	genome.wustl.edu	37	chr9	139752668	139752668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcagtggccgcaggcgtgGcacactcctacgtggctctg	6	7	15	13	3	1	0	0	0	1	0	2	0	2	0	2	5	1	4	2	5	1	1			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr9:139752668G>A	ENST00000317446.2	+	21	2664	c.2614G>A	c.(2614-2616)Gca>Aca	p.A872T	MAMDC4_ENST00000485732.1_Intron|MAMDC4_ENST00000445819.1_Missense_Mutation_p.A951T	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)		CGCAGGCGTGGCACACTCCTA	0.731																																																	0													30	33	32					9																	139752668		2187	4293	6480	SO:0001583	missense	0			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.2614G>A	9.37:g.139752668G>A	ENSP00000319388:p.Ala872Thr			Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt	p.A951T	ENST00000317446.2	37	c.2851	CCDS7010.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.60|10.60	1.395010|1.395010	0.25205|0.25205	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.01963|.	4.53;4.53|.	4.89|4.89	1.92|1.92	0.25849|0.25849	Concanavalin A-like lectin/glucanase (1);MAM domain (3);|.	0.341580|.	0.24328|.	N|.	0.039484|.	T|T	0.36524|0.36524	0.0970|0.0970	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	P;B|.	0.35124|.	0.485;0.332|.	B;B|.	0.39339|.	0.297;0.137|.	T|T	0.23976|0.23976	-1.0173|-1.0173	10|5	0.18710|.	T|.	0.47|.	-12.0643|-12.0643	8.6107|8.6107	0.33800|0.33800	0.0815:0.2908:0.6276:0.0|0.0815:0.2908:0.6276:0.0	.|.	951;872|.	Q6UXC1;Q6UXC1-2|.	AEGP_HUMAN;.|.	T|D	872;951|936	ENSP00000319388:A872T;ENSP00000411339:A951T|.	ENSP00000319388:A872T|.	A|G	+|+	1|2	0|0	MAMDC4|MAMDC4	138872489|138872489	0.127000|0.127000	0.22367|0.22367	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	0.833000|0.833000	0.27504|0.27504	0.105000|0.105000	0.17753|0.17753	-0.315000|-0.315000	0.08773|0.08773	GCA|GGC	MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.731	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3		0	65	0	G	NM_206920		139752668	1			no_errors	ENST00000445819	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.049	A	A	139752668	G	A	139752668	3	1	135	1	0	0	0	0	1	0	0	0	9242	1203	42	3	2696	3	MAMDC4	9	139752668	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	339619	139752668	1460763	85	34732											
ZMYND19	116225	genome.wustl.edu	37	chr9	140482240	140482240	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggcataggcaaatatcttAgcaccatttccatctgcatc	13	11	6	11	0	2	0	0	0	2	0	4	0	3	0	2	2	2	4	2	2	5	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr9:140482240A>T	ENST00000298585.2	-	3	373	c.147T>A	c.(145-147)gcT>gcA	p.A49A	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	49						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)		CAAATATCTTAGCACCATTTC	0.498																																																	0													194	211	205					9																	140482240		2203	4300	6503	SO:0001819	synonymous_variant	0			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.147T>A	9.37:g.140482240A>T			Q5T366	Silent	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.A49	ENST00000298585.2	37	c.147	CCDS7048.1	9																																																																																			ZMYND19	-	NULL	ENSG00000165724		0.498	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND19	HGNC	protein_coding	OTTHUMT00000055356.1	-	0	93	0	A	NM_138462		140482240	-1	tier1	-	no_errors	ENST00000298585	ensembl	human	known	74_37	silent	30.91	38	17	SNP	1.000	T	T	140482240	A	T	140482240	2	4	135	1	0	0	0	0	0	0	0	1	17758	407	15	5		5	ZMYND19	9	140482240	Silent	SNP	A	TCGA-LN-A9FR-01A-11D-A387-09	729572	140482240	731191	86	34733											
FBXO18	84893	genome.wustl.edu	37	chr10	5960397	5960397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccggggtgcggtcaacGccctgttcacagtgccccac	5	8	11	17	3	2	0	2	0	0	0	3	0	3	0	5	3	3	1	5	3	1	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr10:5960397G>T	ENST00000362091.4	+	13	2171	c.2056G>T	c.(2056-2058)Gcc>Tcc	p.A686S	FBXO18_ENST00000397269.3_Missense_Mutation_p.A173S|FBXO18_ENST00000379999.5_Missense_Mutation_p.A737S	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	686					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						TGCGGTCAACGCCCTGTTCAC	0.537																																																	0													146	128	134					10																	5960397		2203	4300	6503	SO:0001583	missense	0			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.2056G>T	10.37:g.5960397G>T	ENSP00000355415:p.Ala686Ser		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom	p.A737S	ENST00000362091.4	37	c.2209	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972464	0.92919	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	T;T;T	0.79749	-1.3;-1.3;-1.3	5.88	5.88	0.94601	.	0.050130	0.85682	D	0.000000	D	0.83339	0.5233	L	0.28054	0.825	0.54753	D	0.999983	D;D;D	0.76494	0.994;0.999;0.999	P;D;D	0.77557	0.89;0.977;0.99	D	0.84243	0.0473	10	0.59425	D	0.04	-17.997	14.457	0.67423	0.072:0.0:0.928:0.0	.	737;686;612	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	S	173;686;737	ENSP00000380439:A173S;ENSP00000355415:A686S;ENSP00000369335:A737S	ENSP00000355415:A686S	A	+	1	0	FBXO18	6000403	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.673000	0.68109	2.791000	0.96007	0.650000	0.86243	GCC	FBXO18	-	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase	ENSG00000134452		0.537	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	-	0	28	0	G	NM_032807		5960397	1	tier1	-	no_errors	ENST00000379999	ensembl	human	known	74_37	missense	25.00	9	3	SNP	1.000	T	T	5960397	G	T	5960397	3	4	135	1	0	0	0	0	1	0	0	0	5753	1087	38	2	2268	2	FBXO18	10	5960397	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09		5960397	129574350	87	34734											
WAC	51322	genome.wustl.edu	37	chr10	28899729	28899729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacgtctctgatttctcaaGctgctcagctctctacacaa	10	13	5	13	1	4	1	2	1	3	0	7	1	4	1	0	0	5	3	0	0	4	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr10:28899729G>T	ENST00000354911.4	+	9	1428	c.1267G>T	c.(1267-1269)Gct>Tct	p.A423S	WAC_ENST00000375664.4_Missense_Mutation_p.A378S|WAC_ENST00000347934.4_Missense_Mutation_p.A320S|WAC_ENST00000428935.1_Missense_Mutation_p.A378S|WAC_ENST00000375646.1_Missense_Mutation_p.A271S	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	423					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)	p.A423T(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GATTTCTCAAGCTGCTCAGCT	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											172	166	168					10																	28899729		2203	4300	6503	SO:0001583	missense	0			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.1267G>T	10.37:g.28899729G>T	ENSP00000346986:p.Ala423Ser		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.A423S	ENST00000354911.4	37	c.1267	CCDS7159.1	10	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437394	0.83885	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935	T;T;T;T;T	0.39997	1.6;1.77;1.68;1.6;1.05	5.45	4.55	0.56014	.	0.097976	0.64402	D	0.000001	T	0.49643	0.1569	L	0.27053	0.805	0.48696	D	0.999697	B;D;B;D	0.71674	0.419;0.998;0.295;0.996	B;D;B;D	0.76071	0.202;0.915;0.1;0.987	T	0.43605	-0.9381	10	0.30078	T	0.28	-18.7691	14.5228	0.67863	0.0707:0.0:0.9293:0.0	.	378;320;423;378	Q9BTA9-2;Q9BTA9-5;Q9BTA9;Q9BTA9-3	.;.;WAC_HUMAN;.	S	378;271;320;423;378	ENSP00000364816:A378S;ENSP00000364797:A271S;ENSP00000311106:A320S;ENSP00000346986:A423S;ENSP00000399706:A378S	ENSP00000311106:A320S	A	+	1	0	WAC	28939735	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.604000	0.82830	1.439000	0.47511	-0.262000	0.10625	GCT	WAC	-	NULL	ENSG00000095787		0.378	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1		0	76	0	G	NM_100264		28899729	1			no_errors	ENST00000354911	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	28899729	G	T	28899729	3	4	135	1	0	0	0	0	1	0	0	0	17296	971	34	3	1301	3	WAC	10	28899729	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	22939332	28899729	106635018	88	34735											
UNC5B	219699	genome.wustl.edu	37	chr10	73056419	73056419	+	Frame_Shift_Del	DEL	A	A	-																															agaggcacagcttggcctccAcagagctcacctgcaagatc																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr10:73056419delA	ENST00000335350.6	+	15	2826	c.2410delA	c.(2410-2412)acafs	p.T804fs	UNC5B_ENST00000373192.4_Frame_Shift_Del_p.T793fs	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	804	UPA domain. {ECO:0000250}.				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						CTTGGCCTCCACAGAGCTCAC	0.607																																																	0													77	68	71					10																	73056419		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2410delA	10.37:g.73056419delA	ENSP00000334329:p.Thr804fs		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Frame_Shift_Del	DEL	pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.T804fs	ENST00000335350.6	37	c.2410	CCDS7309.1	10																																																																																			UNC5B	-	NULL	ENSG00000107731		0.607	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1		0	48	0	A	NM_170744		73056419	1	tier1		no_errors	ENST00000335350	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-	-	73056419	A	-	73056419	7	5	135	1	0	1	0	1	0	0	0	0	17041	159	6	0	2468	0	UNC5B	10	73056419	Frame_Shift_Del	DEL	A	TCGA-LN-A9FR-01A-11D-A387-09	44156690	73056419	62478328	89	34736											
FAM190B	54462	genome.wustl.edu	37	chr10	86185632	86185632	+	Frame_Shift_Del	DEL	A	A	-																															gaccactatcatcaccatggAaaaagtgacttgagcaggta																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr10:86185632delA	ENST00000224756.8	+	5	2036	c.1851delA	c.(1849-1851)ggafs	p.G617fs	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000372088.2_Frame_Shift_Del_p.G617fs|CCSER2_ENST00000543283.1_Frame_Shift_Del_p.G44fs	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	617					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											ATCACCATGGAAAAAGTGACT	0.453																																																	0													120	103	109					10																	86185632		2203	4300	6503	SO:0001589	frameshift_variant	0				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.1851delA	10.37:g.86185632delA	ENSP00000224756:p.Gly617fs		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Frame_Shift_Del	DEL	NULL	p.S619fs	ENST00000224756.8	37	c.1851	CCDS31235.1	10																																																																																			CCSER2	-	NULL	ENSG00000107771		0.453	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER2	HGNC	protein_coding	OTTHUMT00000049132.2		0	34	0	A	NM_018999		86185632	1	tier1		no_errors	ENST00000372088	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	0.396	-	-	86185632	A	-	86185632	7	5	135	1	0	1	0	1	0	0	0	0	5541	233	9	0	1865	0	FAM190B	10	86185632	Frame_Shift_Del	DEL	A	TCGA-LN-A9FR-01A-11D-A387-09	13129213	86185632	49349115	90	34737											
PLCE1	51196	genome.wustl.edu	37	chr10	95892039	95892039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatggaaggataagcgttGgtccatgcttaaagcaatgt	12	10	11	8	1	0	0	0	0	0	0	1	2	1	2	2	3	3	3	2	3	5	3	rs201727715		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr10:95892039G>T	ENST00000371380.3	+	2	1550	c.1315G>T	c.(1315-1317)Ggt>Tgt	p.G439C	PLCE1_ENST00000260766.3_Missense_Mutation_p.G439C|PLCE1_ENST00000371385.3_Missense_Mutation_p.G131C|PLCE1_ENST00000371375.1_Missense_Mutation_p.G131C			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	439					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.G439C(2)|p.G131C(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATAAGCGTTGGTCCATGCTT	0.488																																																	4	Substitution - Missense(4)	lung(4)											150	154	153					10																	95892039		2094	4210	6304	SO:0001583	missense	0				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.1315G>T	10.37:g.95892039G>T	ENSP00000360431:p.Gly439Cys		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.G439C	ENST00000371380.3	37	c.1315	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516519	0.27123	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.41	3.5	0.40072	Ras guanine nucleotide exchange factor, domain (1);	0.639221	0.14348	N	0.325298	T	0.34745	0.0908	N	0.24115	0.695	0.26949	N	0.966064	D;D;D	0.67145	0.993;0.996;0.993	P;P;P	0.59288	0.628;0.855;0.72	T	0.11036	-1.0604	10	0.87932	D	0	.	10.1651	0.42875	0.1627:0.0:0.8373:0.0	.	439;131;439	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	C	439;439;131;131	ENSP00000260766:G439C;ENSP00000360431:G439C;ENSP00000360438:G131C;ENSP00000360426:G131C	ENSP00000260766:G439C	G	+	1	0	PLCE1	95882029	0.090000	0.21635	0.540000	0.28089	0.002000	0.02628	0.464000	0.21988	1.198000	0.43158	0.563000	0.77884	GGT	PLCE1	-	superfamily_Ras_GEF_dom	ENSG00000138193		0.488	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0	49	0	G	NM_016341		95892039	1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.655	T	T	95892039	G	T	95892039	3	4	135	1	0	0	0	0	1	0	0	0	12073	1348	47	3	1607	3	PLCE1	10	95892039	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	9706407	95892039	39642708	91	34738											
NUP98	4928	genome.wustl.edu	37	chr11	3733897	3733897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctttgtactagttttaGacggatgctcctcctcctct	6	17	6	12	1	2	1	0	0	2	1	5	2	5	2	3	1	2	3	3	1	3	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:3733897G>T	ENST00000324932.7	-	20	3059	c.2639C>A	c.(2638-2640)tCt>tAt	p.S880Y	NUP98_ENST00000397007.4_Missense_Mutation_p.S897Y|NUP98_ENST00000397004.4_Missense_Mutation_p.S880Y|NUP98_ENST00000355260.3_Missense_Mutation_p.S880Y|NUP98_ENST00000359171.4_Missense_Mutation_p.S880Y|RNU6-1143P_ENST00000516125.1_RNA	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	897	Peptidase S59. {ECO:0000255|PROSITE- ProRule:PRU00765}.				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)		ACTAGTTTTAGACGGATGCTC	0.463			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													162	151	154					11																	3733897		2201	4298	6499	SO:0001583	missense	0			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.2639C>A	11.37:g.3733897G>T	ENSP00000316032:p.Ser880Tyr		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.S880Y	ENST00000324932.7	37	c.2639	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459762	0.43736	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.48	5.48	0.80851	.	0.376214	0.28214	N	0.016174	T	0.32406	0.0828	L	0.50333	1.59	0.23632	N	0.997246	P;B;P;P	0.48503	0.681;0.415;0.911;0.911	B;B;B;B	0.43123	0.195;0.179;0.409;0.319	T	0.42965	-0.9420	9	0.56958	D	0.05	-3.8629	6.7954	0.23722	0.0914:0.0:0.7311:0.1775	.	897;880;880;880	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	Y	880;880;880;880;897	.	ENSP00000316032:S880Y	S	-	2	0	NUP98	3690473	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.448000	0.44926	2.584000	0.87258	0.563000	0.77884	TCT	NUP98	-	NULL	ENSG00000110713		0.463	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	-	0	73	0	G	NM_016320		3733897	-1	tier1	-	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.949	T	T	3733897	G	T	3733897	3	4	135	1	0	0	0	0	1	0	0	0	10812	942	33	3	2840	3	NUP98	11	3733897	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09		3733897	131272619	92	34739											
DNHD1	144132	genome.wustl.edu	37	chr11	6588210	6588210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacatagtgagggcccaagGaaagctatgccagctgcgtg	12	6	14	9	1	0	1	0	1	0	0	0	3	0	2	2	2	5	2	2	2	5	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:6588210G>T	ENST00000527990.2	+	34	11471	c.11471G>T	c.(11470-11472)gGa>gTa	p.G3824V	DNHD1_ENST00000254579.6_Missense_Mutation_p.G3824V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3824					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)		AGGGCCCAAGGAAAGCTATGC	0.527																																																	0													75	76	76					11																	6588210		2003	4172	6175	SO:0001583	missense	0			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.11471G>T	11.37:g.6588210G>T	ENSP00000436180:p.Gly3824Val		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.G3824V	ENST00000527990.2	37	c.11471	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253329	0.10185	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.25414	1.8;1.8	4.82	3.91	0.45181	.	0.496993	0.16799	N	0.199068	T	0.13927	0.0337	N	0.08118	0	0.40147	D	0.9769	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.14578	0.011;0.011;0.011	T	0.07829	-1.0752	10	0.28530	T	0.3	-3.6447	12.4595	0.55723	0.0:0.8275:0.1725:0.0	.	2912;92;3824	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	V	3824;3824;92;92	ENSP00000254579:G3824V;ENSP00000436180:G3824V	ENSP00000254579:G3824V	G	+	2	0	DNHD1	6544786	0.395000	0.25254	0.408000	0.26446	0.083000	0.17756	0.542000	0.23222	1.249000	0.43950	-0.147000	0.13772	GGA	DNHD1	-	NULL	ENSG00000179532		0.527	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0	36	0	G	NM_144666		6588210	1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.774	T	T	6588210	G	T	6588210	3	4	135	1	0	0	0	0	1	0	0	0	4682	1174	41	3	11614	3	DNHD1	11	6588210	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	2854313	6588210	128418306	93	34740											
TUB	7275	genome.wustl.edu	37	chr11	8118318	8118318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctaaatagtaacaccCgccccagctctgctactagc	11	7	6	17	1	1	0	0	0	1	0	1	0	1	0	4	0	6	4	4	0	6	5			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:8118318C>T	ENST00000299506.2	+	6	801	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	TUB_ENST00000534099.1_Missense_Mutation_p.R224C|TUB_ENST00000305253.4_Missense_Mutation_p.R273C	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	218					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)		TAGTAACACCCGCCCCAGCTC	0.552																																																	0													82	76	78					11																	8118318		2201	4296	6497	SO:0001583	missense	0			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.652C>T	11.37:g.8118318C>T	ENSP00000299506:p.Arg218Cys		D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.R273C	ENST00000299506.2	37	c.817	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848505	0.71603	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86769	-2.14;-2.17;-2.14	4.78	4.78	0.61160	Tubby, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92410	0.7591	M	0.62088	1.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.991;0.991;0.994	D	0.92940	0.6371	10	0.59425	D	0.04	-8.7122	18.1483	0.89665	0.0:1.0:0.0:0.0	.	224;218;273	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	C	224;273;218	ENSP00000434400:R224C;ENSP00000305426:R273C;ENSP00000299506:R218C	ENSP00000299506:R218C	R	+	1	0	TUB	8074894	0.995000	0.38212	1.000000	0.80357	0.989000	0.77384	2.758000	0.47565	2.349000	0.79799	0.491000	0.48974	CGC	TUB	-	prints_Tubby_N	ENSG00000166402		0.552	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	-	0	37	0	C	NM_003320		8118318	1	tier1	-	no_errors	ENST00000305253	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	T	T	8118318	C	T	8118318	3	4	135	1	0	0	0	0	1	0	0	0	16791	652	23	1	885	1	TUB	11	8118318	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	1530108	8118318	126888198	94	34741											
MRGPRX4	117196	genome.wustl.edu	37	chr11	18195433	18195433	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggatcccggaagatgccGctgaccaggctgtacgtgac	8	8	14	11	3	0	3	0	2	0	1	1	5	1	5	3	3	2	3	3	3	2	1			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:18195433G>A	ENST00000314254.3	+	1	1050	c.630G>A	c.(628-630)ccG>ccA	p.P210P	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	210						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						GGAAGATGCCGCTGACCAGGC	0.562																																																	0													105	97	100					11																	18195433		2199	4293	6492	SO:0001819	synonymous_variant	0			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.630G>A	11.37:g.18195433G>A			Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P210	ENST00000314254.3	37	c.630	CCDS7831.1	11																																																																																			MRGPRX4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000179817		0.562	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX4	HGNC	protein_coding	OTTHUMT00000389788.1	-	0	84	0	G	NM_054032		18195433	1	tier1	-	no_errors	ENST00000314254	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.000	A	A	18195433	G	A	18195433	2	1	135	1	0	0	0	0	0	0	0	1	9807	1074	38	1		1	MRGPRX4	11	18195433	Silent	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	10077115	18195433	116811083	95	34742											
GAS2	2620	genome.wustl.edu	37	chr11	22747882	22747882	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaaccagtgcaccctcGggctccttttttgccagaga	9	10	9	13	1	0	1	0	0	0	1	2	2	1	1	4	1	4	3	4	1	2	3	rs201723000	byFrequency	TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:22747882G>T	ENST00000454584.2	+	4	617	c.312G>T	c.(310-312)tcG>tcT	p.S104S	GAS2_ENST00000433790.1_Silent_p.S104S|GAS2_ENST00000278187.3_Silent_p.S104S	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	104	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						GTGCACCCTCGGGCTCCTTTT	0.418																																																	0													125	128	127					11																	22747882		2203	4300	6503	SO:0001819	synonymous_variant	0			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.312G>T	11.37:g.22747882G>T			B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S104	ENST00000454584.2	37	c.312	CCDS7858.1	11																																																																																			GAS2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000148935		0.418	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	HGNC	protein_coding	OTTHUMT00000387717.1	-	0	77	0	G	NM_177553		22747882	1	tier1	-	no_errors	ENST00000278187	ensembl	human	known	74_37	silent	8.62	53	5	SNP	0.961	T	T	22747882	G	T	22747882	2	4	135	1	0	0	0	0	0	0	0	1	6270	1103	39	2		2	GAS2	11	22747882	Silent	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	4552449	22747882	112258634	96	34743											
PTPRJ	5795	genome.wustl.edu	37	chr11	48149405	48149405	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctgatctggaaagtcagCgataacgagtcgtcatctaa	13	9	9	10	3	4	1	2	1	2	0	5	4	4	2	1	1	2	0	1	1	3	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:48149405C>T	ENST00000418331.2	+	7	1519	c.1167C>T	c.(1165-1167)agC>agT	p.S389S	PTPRJ_ENST00000440289.2_Silent_p.S389S	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	389	Fibronectin type-III 4. {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						GGAAAGTCAGCGATAACGAGT	0.493																																																	0													162	136	145					11																	48149405		2201	4298	6499	SO:0001819	synonymous_variant	0			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.1167C>T	11.37:g.48149405C>T			Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S389	ENST00000418331.2	37	c.1167	CCDS7945.1	11																																																																																			PTPRJ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149177		0.493	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1		0	51	0	C			48149405	1			no_errors	ENST00000418331	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.000	T	T	48149405	C	T	48149405	2	4	135	1	0	0	0	0	0	0	0	1	12849	767	27	1		1	PTPRJ	11	48149405	Silent	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	25401523	48149405	86857111	97	34744											
OR8H3	390152	genome.wustl.edu	37	chr11	55889986	55889986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctggggaatgtggggatGctattgataatccgcctgga	9	11	15	6	1	0	1	0	1	0	0	1	4	1	4	2	5	2	2	2	5	3	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:55889986G>T	ENST00000313472.3	+	1	138	c.138G>T	c.(136-138)atG>atT	p.M46I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	46						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)					ATGTGGGGATGCTATTGATAA	0.448																																																	0													301	302	302					11																	55889986		2201	4296	6497	SO:0001583	missense	0			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.138G>T	11.37:g.55889986G>T	ENSP00000323928:p.Met46Ile		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M46I	ENST00000313472.3	37	c.138	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	G	1.982	-0.433823	0.04669	.	.	ENSG00000181761	ENST00000313472	T	0.00330	8.08	3.44	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.091437	0.48767	D	0.000161	T	0.00109	0.0003	N	0.00750	-1.22	0.09310	N	1	B	0.22851	0.076	B	0.27608	0.081	T	0.35599	-0.9782	10	0.48119	T	0.1	.	7.3864	0.26884	0.105:0.2766:0.6184:0.0	.	46	Q8N146	OR8H3_HUMAN	I	46	ENSP00000323928:M46I	ENSP00000323928:M46I	M	+	3	0	OR8H3	55646562	0.048000	0.20356	0.463000	0.27130	0.046000	0.14306	0.027000	0.13621	1.621000	0.50320	0.173000	0.16961	ATG	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181761		0.448	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	-	0	115	0	G	NM_001005201		55889986	1	tier1	-	no_errors	ENST00000313472	ensembl	human	known	74_37	missense	23.29	56	17	SNP	0.102	T	T	55889986	G	T	55889986	3	4	135	1	0	0	0	0	1	0	0	0	11278	1319	46	3	140	3	OR8H3	11	55889986	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	7740581	55889986	79116530	98	34745											
OSBP	5007	genome.wustl.edu	37	chr11	59376070	59376070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctcactgagagaacGctgcagagctgtgccatgct	9	8	11	13	1	1	3	1	1	0	2	2	4	2	3	2	0	6	5	2	0	1	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:59376070G>A	ENST00000263847.1	-	3	1188	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	237					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTGAGAGAACGCTGCAGAGCT	0.493																																																	0													144	123	130					11																	59376070		2201	4295	6496	SO:0001583	missense	0			AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.709C>T	11.37:g.59376070G>A	ENSP00000263847:p.Arg237Cys		Q6P524	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R237C	ENST00000263847.1	37	c.709	CCDS7974.1	11	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604958	0.87157	.	.	ENSG00000110048	ENST00000263847	D	0.92495	-3.05	5.89	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.96626	0.8899	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97047	0.9761	10	0.87932	D	0	-16.8506	16.1341	0.81471	0.0:0.0:0.8659:0.1341	.	237	P22059	OSBP1_HUMAN	C	237	ENSP00000263847:R237C	ENSP00000263847:R237C	R	-	1	0	OSBP	59132646	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.212000	0.42835	2.789000	0.95967	0.655000	0.94253	CGT	OSBP	-	NULL	ENSG00000110048		0.493	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBP	HGNC	protein_coding	OTTHUMT00000394555.1	-	0	43	0	G			59376070	-1	tier1	-	no_errors	ENST00000263847	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	A	A	59376070	G	A	59376070	3	1	135	1	0	0	0	0	1	0	0	0	11312	1087	38	1	1762	1	OSBP	11	59376070	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	3486084	59376070	75630446	99	34746											
ALDH3B1	221	genome.wustl.edu	37	chr11	67786319	67786319	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgcgccctggaactatccGctgaacctgacgctggtgcc	7	9	11	14	3	0	2	0	2	0	0	1	3	1	3	4	2	4	2	4	2	3	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:67786319G>A	ENST00000539229.1	+	5	464	c.348G>A	c.(346-348)ccG>ccA	p.P116P	ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Silent_p.P116P|ALDH3B1_ENST00000342456.6_Silent_p.P80P|ALDH3B1_ENST00000007633.8_Silent_p.P116P	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	117					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										GGAACTATCCGCTGAACCTGA	0.677																																																	0													23	25	24					11																	67786319		2165	4251	6416	SO:0001819	synonymous_variant	0			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"Aldehyde dehydrogenases"	410	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 7", "aldehyde dehydrogenase 3B1"	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.348G>A	11.37:g.67786319G>A			A3FMP9|Q53XL5|Q8N515|Q96CK8	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.P116	ENST00000539229.1	37	c.348		11																																																																																			ALDH3B1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000006534		0.677	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	ALDH3B1	HGNC	protein_coding			0	41	0	G	NM_000694		67786319	1			no_errors	ENST00000007633	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.000	A	A	67786319	G	A	67786319	2	1	135	1	0	0	0	0	0	0	0	1	499	1074	38	1		1	ALDH3B1	11	67786319	Silent	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	8410249	67786319	67220197	100	34747											
TECTA	7007	genome.wustl.edu	37	chr11	121016684	121016684	+	Frame_Shift_Del	DEL	T	T	-																															acagcaaagttaaccccaccTtcttctataagaactgcctg																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:121016684delT	ENST00000392793.1	+	12	4235	c.3964delT	c.(3964-3966)ttcfs	p.F1323fs	TECTA_ENST00000264037.2_Frame_Shift_Del_p.F1323fs|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1323					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)		TAACCCCACCTTCTTCTATAA	0.562																																																	0													113	105	108					11																	121016684		2203	4299	6502	SO:0001589	frameshift_variant	0			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.3964delT	11.37:g.121016684delT	ENSP00000376543:p.Phe1323fs			Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.F1322fs	ENST00000392793.1	37	c.3964	CCDS8434.1	11																																																																																			TECTA	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000109927		0.562	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1		0	48	0	T	NM_005422		121016684	1	tier1		no_errors	ENST00000264037	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	0.990	-	-	121016684	T	-	121016684	7	5	135	1	0	1	0	1	0	0	0	0	15794	1609	56	0	4006	0	TECTA	11	121016684	Frame_Shift_Del	DEL	T	TCGA-LN-A9FR-01A-11D-A387-09	53230365	121016684	13989832	101	34748											
OR6T1	219874	genome.wustl.edu	37	chr11	123813686	123813686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcggagagtgaagatgaatGggttcaagaggggtgtgatg	11	9	19	2	1	1	6	1	3	0	3	1	7	1	6	0	4	1	1	0	4	3	1	rs559546518		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:123813686G>A	ENST00000321252.2	-	1	894	c.860C>T	c.(859-861)cCa>cTa	p.P287L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|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)		GAAGATGAATGGGTTCAAGAG	0.517																																																	0													265	229	242					11																	123813686		2202	4299	6501	SO:0001583	missense	0			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.860C>T	11.37:g.123813686G>A	ENSP00000325203:p.Pro287Leu		Q6IFE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P287L	ENST00000321252.2	37	c.860	CCDS31700.1	11	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345307	0.61073	.	.	ENSG00000181499	ENST00000321252	T	0.63417	-0.04	3.7	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.72993	0.3530	L	0.61036	1.89	0.35565	D	0.805017	D	0.89917	1.0	D	0.97110	1.0	T	0.77699	-0.2490	9	0.87932	D	0	-53.1545	8.7059	0.34354	0.1159:0.0:0.8841:0.0	.	287	Q8NGN1	OR6T1_HUMAN	L	287	ENSP00000325203:P287L	ENSP00000325203:P287L	P	-	2	0	OR6T1	123318896	0.984000	0.35163	0.411000	0.26484	0.950000	0.60333	1.822000	0.39052	0.743000	0.32719	0.563000	0.77884	CCA	OR6T1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000181499		0.517	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6T1	HGNC	protein_coding	OTTHUMT00000387264.1		0	63	0	G	NM_001005187		123813686	-1			no_errors	ENST00000321252	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.974	A	A	123813686	G	A	123813686	3	1	135	1	0	0	0	0	1	0	0	0	11249	1348	47	3	114	3	OR6T1	11	123813686	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	2797002	123813686	11192830	102	34749											
SLC6A12	6539	genome.wustl.edu	37	chr12	306657	306657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	actgttcaggaagcagagggCgatgcagtccctgtgggagt	9	8	16	8	1	1	1	1	0	0	1	2	4	2	3	1	3	2	3	1	3	1	1	rs373249721		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:306657C>T	ENST00000428720.1	-	10	1704	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	SLC6A12_ENST00000424061.2_Missense_Mutation_p.A321T|SLC6A12_ENST00000359674.4_Missense_Mutation_p.A321T|SLC6A12_ENST00000538272.1_5'Flank|SLC6A12_ENST00000397296.2_Missense_Mutation_p.A321T|SLC6A12_ENST00000536824.1_Missense_Mutation_p.A321T	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	321					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)			AAGCAGAGGGCGATGCAGTCC	0.557																																																	0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	67	55	59		961,961,961,961	4.4	1	12		59	0,8600		0,0,4300	no	missense,missense,missense,missense	SLC6A12	NM_001122847.2,NM_001122848.2,NM_001206931.1,NM_003044.4	58,58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	321/615,321/615,321/615,321/615	306657	1,13005	2203	4300	6503	SO:0001583	missense	0			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.961G>A	12.37:g.306657C>T	ENSP00000388184:p.Ala321Thr		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.A321T	ENST00000428720.1	37	c.961	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787231	0.49997	2.27E-4	0.0	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	4.44	4.44	0.53790	.	0.287190	0.31177	N	0.008114	T	0.71187	0.3310	L	0.35723	1.085	0.37765	D	0.926465	P	0.49783	0.928	P	0.52627	0.704	T	0.74115	-0.3769	10	0.48119	T	0.1	.	8.5343	0.33353	0.0:0.8576:0.0:0.1424	.	321	P48065	S6A12_HUMAN	T	321	ENSP00000352702:A321T;ENSP00000380464:A321T;ENSP00000388184:A321T;ENSP00000399136:A321T;ENSP00000444268:A321T	ENSP00000352702:A321T	A	-	1	0	SLC6A12	176918	0.990000	0.36364	1.000000	0.80357	0.976000	0.68499	1.129000	0.31381	2.299000	0.77371	0.655000	0.94253	GCC	SLC6A12	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000111181		0.557	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2	-	0	46	0	C	NM_003044		306657	-1	tier1	-	no_errors	ENST00000359674	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.936	T	T	306657	C	T	306657	3	4	135	1	0	0	0	0	1	0	0	0	14720	768	27	1	911	1	SLC6A12	12	306657	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09		306657	133545238	103	34750											
WNK1	65125	genome.wustl.edu	37	chr12	970189	970189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tattctgtaggtagagtctgGgtatgtctgtgaaggtgatc	8	15	14	4	0	3	3	0	2	3	1	4	3	3	3	0	3	0	3	0	3	5	5			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:970189G>T	ENST00000315939.6	+	7	2274	c.1631G>T	c.(1630-1632)gGg>gTg	p.G544V	WNK1_ENST00000340908.4_Missense_Mutation_p.G137V|WNK1_ENST00000537687.1_Missense_Mutation_p.G544V|WNK1_ENST00000535572.1_Missense_Mutation_p.G544V|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000530271.2_Missense_Mutation_p.G544V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	544					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)			GTAGAGTCTGGGTATGTCTGT	0.433																																					Colon(19;451 567 6672 12618 28860)												0													151	168	162					12																	970189		2203	4300	6503	SO:0001583	missense	0			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.1631G>T	12.37:g.970189G>T	ENSP00000313059:p.Gly544Val		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G544V	ENST00000315939.6	37	c.1631	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574000	0.86542	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000530271;ENST00000340908	T;T;T;T;T	0.73047	-0.63;-0.71;-0.58;-0.64;-0.03	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000005	D	0.86606	0.5973	M	0.84948	2.725	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.87578	0.997;0.998	D	0.88178	0.2869	10	0.87932	D	0	-10.7453	19.5385	0.95264	0.0:0.0:1.0:0.0	.	544;544	F5GWT4;Q9H4A3	.;WNK1_HUMAN	V	544;544;544;544;137	ENSP00000441972:G544V;ENSP00000313059:G544V;ENSP00000444465:G544V;ENSP00000433548:G544V;ENSP00000341292:G137V	ENSP00000313059:G544V	G	+	2	0	WNK1	840450	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.869000	0.99810	2.622000	0.88805	0.591000	0.81541	GGG	WNK1	-	NULL	ENSG00000060237		0.433	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	-	0	66	0	G	NM_018979		970189	1	tier1	-	no_errors	ENST00000530271	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	970189	G	T	970189	3	4	135	1	0	0	0	0	1	0	0	0	17426	1232	43	3	1657	3	WNK1	12	970189	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	663532	970189	132881706	104	34751											
GALNT8	26290	genome.wustl.edu	37	chr12	4872542	4872542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccactccacaccatcGtgggctatggaagagtatgt	11	9	11	10	1	0	2	0	1	0	1	2	3	1	3	3	2	1	2	3	2	4	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:4872542G>A	ENST00000252318.2	+	8	1820	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	495					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						CCACACCATCGTGGGCTATGG	0.418																																					Colon(108;631 1558 7270 20097 39846)												0													115	112	113					12																	4872542		2203	4300	6503	SO:0001583	missense	0			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.1483G>A	12.37:g.4872542G>A	ENSP00000252318:p.Val495Met		B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V495M	ENST00000252318.2	37	c.1483	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	G	8.697	0.908720	0.17833	.	.	ENSG00000130035	ENST00000252318	T	0.32272	1.46	4.17	3.28	0.37604	Ricin B-related lectin (1);	0.732091	0.10864	U	0.625724	T	0.22322	0.0538	L	0.55834	1.745	0.09310	N	1	P	0.45428	0.858	B	0.31101	0.124	T	0.16778	-1.0391	10	0.46703	T	0.11	.	6.5304	0.22324	0.2174:0.0:0.7826:0.0	.	495	Q9NY28	GALT8_HUMAN	M	495	ENSP00000252318:V495M	ENSP00000252318:V495M	V	+	1	0	GALNT8	4742803	0.068000	0.21057	0.273000	0.24645	0.287000	0.27160	0.611000	0.24268	0.965000	0.38133	-0.137000	0.14449	GTG	GALNT8	-	superfamily_Ricin_B_lectin	ENSG00000130035		0.418	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0	53	0	G	NM_017417		4872542	1	tier1	-	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.077	A	A	4872542	G	A	4872542	3	1	135	1	0	0	0	0	1	0	0	0	6244	1145	40	1	1513	1	GALNT8	12	4872542	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	3902353	4872542	128979353	105	34752											
PLEKHA5	54477	genome.wustl.edu	37	chr12	19408050	19408050	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataaatgaagcttctaactAtaacgtgacttcagattatg	15	13	7	6	1	2	3	1	2	1	1	2	4	2	3	0	0	3	1	0	0	7	7			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:19408050A>G	ENST00000299275.6	+	5	389	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y128C|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y20C|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y128C|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y20C|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y128C|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Y128C|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.Y128C|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Y128C	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	128					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)					GCTTCTAACTATAACGTGACT	0.343																																					Pancreas(196;329 2193 11246 14234 19524)												0													121	115	117					12																	19408050		2203	4300	6503	SO:0001583	missense	0			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.383A>G	12.37:g.19408050A>G	ENSP00000299275:p.Tyr128Cys		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.Y128C	ENST00000299275.6	37	c.383	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	A	19.88	3.909182	0.72868	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000412219;ENST00000429027;ENST00000299275;ENST00000538714;ENST00000538305;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.30981	2.63;2.63;2.63;2.63;2.63;2.63;2.63;1.51;2.86;2.88;2.88	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	L	0.40543	1.245	0.45150	D	0.998163	D;D;D;D;D;D	0.89917	0.989;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.973;1.0;0.999;0.982;0.999;1.0	T	0.36212	-0.9757	10	0.49607	T	0.09	-13.8494	13.1934	0.59723	1.0:0.0:0.0:0.0	.	128;20;20;128;128;128	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0;Q9HAU0-2	.;.;.;.;PKHA5_HUMAN;.	C	128;128;128;128;128;128;128;128;128;20;20;20;20	ENSP00000325155:Y128C;ENSP00000347560:Y128C;ENSP00000352104:Y128C;ENSP00000311239:Y128C;ENSP00000404296:Y128C;ENSP00000299275:Y128C;ENSP00000439673:Y128C;ENSP00000446308:Y20C;ENSP00000400411:Y20C;ENSP00000439837:Y20C;ENSP00000440371:Y20C	ENSP00000299275:Y128C	Y	+	2	0	PLEKHA5	19299317	1.000000	0.71417	0.885000	0.34714	0.940000	0.58332	7.955000	0.87856	2.041000	0.60428	0.377000	0.23210	TAT	PLEKHA5	-	NULL	ENSG00000052126		0.343	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	-	0	64	0	A	NM_019012		19408050	1	tier1	-	no_errors	ENST00000317589	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	G	G	19408050	A	G	19408050	3	3	135	1	0	0	0	0	1	0	0	0	12098	449	16	4	401	4	PLEKHA5	12	19408050	Missense_Mutation	SNP	A	TCGA-LN-A9FR-01A-11D-A387-09	14535508	19408050	114443845	106	34753											
TFCP2	7024	genome.wustl.edu	37	chr12	51512514	51512514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcattatcaggaggcaaaCtcgactcttcttgcttaaaa	12	13	6	10	1	4	0	2	0	3	0	6	2	4	1	0	2	2	2	0	2	4	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:51512514C>T	ENST00000257915.5	-	2	622	c.164G>A	c.(163-165)aGt>aAt	p.S55N	TFCP2_ENST00000548115.1_Missense_Mutation_p.S55N|TFCP2_ENST00000307660.4_Missense_Mutation_p.S55N|TFCP2_ENST00000549867.1_Missense_Mutation_p.S55N	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	55					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S55N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGGAGGCAAACTCGACTCTTC	0.393																																																	1	Substitution - Missense(1)	lung(1)											181	173	176					12																	51512514		2203	4300	6503	SO:0001583	missense	0			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.164G>A	12.37:g.51512514C>T	ENSP00000257915:p.Ser55Asn		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.S55N	ENST00000257915.5	37	c.164	CCDS8808.1	12	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431046	0.43122	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	T;T;T;T	0.46819	2.2;0.86;2.19;0.86	5.66	1.49	0.22878	CP2 transcription factor (1);	0.091976	0.85682	D	0.000000	T	0.34279	0.0892	L	0.50333	1.59	0.33061	D	0.534063	B;B;B;B	0.20887	0.0;0.049;0.0;0.0	B;B;B;B	0.18263	0.001;0.021;0.005;0.003	T	0.26573	-1.0099	10	0.40728	T	0.16	-11.6969	3.3937	0.07298	0.1299:0.4746:0.2522:0.1434	.	55;55;55;55	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	N	55	ENSP00000257915:S55N;ENSP00000304411:S55N;ENSP00000449742:S55N;ENSP00000447991:S55N	ENSP00000257915:S55N	S	-	2	0	TFCP2	49798781	0.025000	0.19082	1.000000	0.80357	0.988000	0.76386	0.341000	0.19909	0.408000	0.25621	0.591000	0.81541	AGT	TFCP2	-	NULL	ENSG00000135457		0.393	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1		0	84	0	C	NM_005653		51512514	-1			no_errors	ENST00000257915	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.997	T	T	51512514	C	T	51512514	3	4	135	1	0	0	0	0	1	0	0	0	15842	565	20	3	1400	3	TFCP2	12	51512514	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	32104464	51512514	82339381	107	34754											
PPP1R1A	5502	genome.wustl.edu	37	chr12	54974789	54974789	+	Missense_Mutation	SNP	T	T	C	0	1	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	agggttcttttgtgctgggtTccttactgcctctctcgtga	3	17	11	10	1	2	1	0	1	2	0	5	1	3	1	2	2	3	3	2	2	1	5			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:54974789T>C	ENST00000257905.8	-	6	619	c.449A>G	c.(448-450)gAa>gGa	p.E150G	PPP1R1A_ENST00000547431.1_Missense_Mutation_p.N77D	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	150	Interaction with PPP1R15A.				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						TGTGCTGGGTTCCTTACTGCC	0.542																																																	0													223	211	214					12																	54974789		1891	4119	6010	SO:0001583	missense	0			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.449A>G	12.37:g.54974789T>C	ENSP00000257905:p.Glu150Gly		Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	pfam_PPI_1DARPP-32	p.E150G	ENST00000257905.8	37	c.449	CCDS44912.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.25|13.25	2.182216|2.182216	0.38511|0.38511	.|.	.|.	ENSG00000135447|ENSG00000135447	ENST00000257905|ENST00000379690;ENST00000553113	T|.	0.32023|.	1.47|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.929407|.	0.08849|.	N|.	0.884806|.	T|T	0.43211|0.43211	0.1237|0.1237	L|L	0.40543|0.40543	1.245|1.245	0.19945|0.19945	N|N	0.999946|0.999946	P|.	0.35468|.	0.503|.	B|.	0.40506|.	0.331|.	T|T	0.37596|0.37596	-0.9699|-0.9699	10|6	0.39692|0.56958	T|D	0.17|0.05	.|.	11.3181|11.3181	0.49405|0.49405	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	150|.	Q13522|.	PPR1A_HUMAN|.	G|D	150|77;69	ENSP00000257905:E150G|.	ENSP00000257905:E150G|ENSP00000369012:N77D	E|N	-|-	2|1	0|0	PPP1R1A|PPP1R1A	53261056|53261056	0.511000|0.511000	0.26179|0.26179	0.073000|0.073000	0.20177|0.20177	0.385000|0.385000	0.30292|0.30292	2.151000|2.151000	0.42263|0.42263	1.990000|1.990000	0.58119|0.58119	0.533000|0.533000	0.62120|0.62120	GAA|AAC	PPP1R1A	-	pfam_PPI_1DARPP-32	ENSG00000135447		0.542	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406604.1	-	0	127	0	T	NM_006741		54974789	-1	tier1	-	no_errors	ENST00000257905	ensembl	human	known	74_37	missense	21.74	36	10	SNP	0.551	C	C	54974789	T	C	54974789	3	2	135	1	0	0	0	0	1	0	0	0	12409	1783	62	4	74	4	PPP1R1A	12	54974789	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	3462275	54974789	78877106	108	34755											
MED13L	23389	genome.wustl.edu	37	chr12	116429734	116429734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcagatagtctggatCtgctaggctcccaacactag	9	12	10	10	0	3	1	1	0	2	1	4	2	4	2	1	2	2	3	1	2	4	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:116429734C>A	ENST00000281928.3	-	17	3231	c.3025G>T	c.(3025-3027)Gat>Tat	p.D1009Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1009						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)		TAGTCTGGATCTGCTAGGCTC	0.532																																																	0													61	53	56					12																	116429734		2203	4300	6503	SO:0001583	missense	0			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.3025G>T	12.37:g.116429734C>A	ENSP00000281928:p.Asp1009Tyr		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.D1009Y	ENST00000281928.3	37	c.3025	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910880	0.52439	.	.	ENSG00000123066	ENST00000281928	T	0.75154	-0.91	5.55	4.66	0.58398	.	0.046860	0.85682	D	0.000000	T	0.72740	0.3498	L	0.38175	1.15	0.58432	D	0.999998	P	0.51791	0.948	P	0.49708	0.62	T	0.76553	-0.2917	10	0.72032	D	0.01	.	14.381	0.66911	0.0:0.9297:0.0:0.0703	.	1009	Q71F56	MD13L_HUMAN	Y	1009	ENSP00000281928:D1009Y	ENSP00000281928:D1009Y	D	-	1	0	MED13L	114914117	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.320000	0.79064	1.582000	0.49881	0.585000	0.79938	GAT	MED13L	-	NULL	ENSG00000123066		0.532	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0	37	0	C			116429734	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	A	A	116429734	C	A	116429734	3	1	135	1	0	0	0	0	1	0	0	0	9469	913	32	3	3667	3	MED13L	12	116429734	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	61454945	116429734	17422161	109	34756											
KNTC1	9735	genome.wustl.edu	37	chr12	123087277	123087277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcacagcacagaacttctgGaaaattctctgtatgtgttc	11	12	9	9	0	2	1	0	0	2	1	4	2	2	2	0	2	2	4	0	2	4	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:123087277G>T	ENST00000333479.7	+	46	4992	c.4815G>T	c.(4813-4815)tgG>tgT	p.W1605C	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.W30C|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1605					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)		AGAACTTCTGGAAAATTCTCT	0.348																																																	0													104	93	96					12																	123087277		1846	4086	5932	SO:0001583	missense	0				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.4815G>T	12.37:g.123087277G>T	ENSP00000328236:p.Trp1605Cys		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.W1605C	ENST00000333479.7	37	c.4815	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811410	0.70797	.	.	ENSG00000184445	ENST00000333479;ENST00000537348	T;T	0.35048	1.33;1.33	5.93	5.93	0.95920	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58752	-0.7581	10	0.87932	D	0	-9.2895	15.8897	0.79286	0.0:0.0:0.8641:0.1359	.	1605	P50748	KNTC1_HUMAN	C	1605;30	ENSP00000328236:W1605C;ENSP00000443622:W30C	ENSP00000328236:W1605C	W	+	3	0	KNTC1	121653230	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.751000	0.74893	2.805000	0.96524	0.655000	0.94253	TGG	KNTC1	-	pfam_RZZ-complex_KNTC1/ROD_C	ENSG00000184445		0.348	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	-	0	72	0	G			123087277	1	tier1	-	no_errors	ENST00000333479	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	T	T	123087277	G	T	123087277	3	4	135	1	0	0	0	0	1	0	0	0	8455	1183	41	3	4993	3	KNTC1	12	123087277	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	6657543	123087277	10764618	110	34757											
GPR109B	8843	genome.wustl.edu	37	chr12	123201265	123201265	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctatttccagaaagtgatccTgcagatggtgccgattcatg	10	12	10	9	1	1	3	1	1	0	2	3	4	3	3	3	1	2	1	3	1	2	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:123201265T>C	ENST00000528880.2	-	1	174	c.20A>G	c.(19-21)cAg>cGg	p.Q7R	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	7					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	AAAGTGATCCTGCAGATGGTG	0.517																																																	0													82	73	76					12																	123201265		2203	4300	6503	SO:0001583	missense	0			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.20A>G	12.37:g.123201265T>C	ENSP00000436714:p.Gln7Arg		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.Q7R	ENST00000528880.2	37	c.20	CCDS53842.1	12	.	.	.	.	.	.	.	.	.	.	T	2.296	-0.361282	0.05103	.	.	ENSG00000255398	ENST00000528880	T	0.62105	0.05	2.45	-4.89	0.03103	.	.	.	.	.	T	0.38134	0.1029	L	0.36672	1.1	0.09310	N	1	B	0.25105	0.118	B	0.16289	0.015	T	0.27706	-1.0066	9	0.12430	T	0.62	.	2.4865	0.04600	0.3707:0.2801:0.0:0.3493	.	7	E9PI97	.	R	7	ENSP00000436714:Q7R	ENSP00000436714:Q7R	Q	-	2	0	HCAR3	121767218	0.019000	0.18553	0.001000	0.08648	0.029000	0.11900	-0.002000	0.12924	-1.151000	0.02836	-1.194000	0.01681	CAG	HCAR3	-	NULL	ENSG00000255398		0.517	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR3	HGNC	protein_coding	OTTHUMT00000387549.2	-	0	76	0	T	NM_006018		123201265	-1	tier1	-	no_errors	ENST00000528880	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.000	C	C	123201265	T	C	123201265	3	2	135	1	0	0	0	0	1	0	0	0	6652	1580	55	4	1147	4	GPR109B	12	123201265	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	113988	123201265	10650630	111	34758											
PITPNM2	57605	genome.wustl.edu	37	chr12	123498531	123498531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccatctgtgtacggcCggttctccaggatctccacg	5	10	12	14	3	3	0	0	0	3	0	5	1	3	1	4	4	1	2	4	4	1	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:123498531C>A	ENST00000542749.1	-	2	200	c.137G>T	c.(136-138)cGg>cTg	p.R46L	PITPNM2_ENST00000280562.5_Missense_Mutation_p.R46L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.R46L|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R46L|RN7SL133P_ENST00000585256.1_RNA|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R46L|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	46					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)		TGTGTACGGCCGGTTCTCCAG	0.592																																																	0													133	113	120					12																	123498531		2203	4300	6503	SO:0001583	missense	0			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.137G>T	12.37:g.123498531C>A	ENSP00000437611:p.Arg46Leu		Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.R46L	ENST00000542749.1	37	c.137	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230848	0.79688	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.42	3.53	0.40419	START-like domain (1);	0.217461	0.35739	N	0.003017	T	0.56062	0.1960	L	0.60455	1.87	0.24148	N	0.995702	P;P;P	0.51147	0.942;0.757;0.941	P;P;P	0.61328	0.887;0.482;0.737	T	0.50575	-0.8812	10	0.72032	D	0.01	-25.8396	12.6112	0.56552	0.0:0.9182:0.0:0.0818	.	46;46;46	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	L	46	ENSP00000280562:R46L;ENSP00000322218:R46L;ENSP00000376223:R46L;ENSP00000437611:R46L	ENSP00000280562:R46L	R	-	2	0	PITPNM2	122064484	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	3.671000	0.54576	0.982000	0.38575	-0.140000	0.14226	CGG	PITPNM2	-	pfam_PI_transfer	ENSG00000090975		0.592	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	-	0	19	0	C	NM_020845		123498531	-1	tier1	-	no_errors	ENST00000320201	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	A	A	123498531	C	A	123498531	3	1	135	1	0	0	0	0	1	0	0	0	11990	652	23	2	4004	2	PITPNM2	12	123498531	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	297266	123498531	10353364	112	34759											
DDX51	317781	genome.wustl.edu	37	chr12	132628264	132628264	+	Frame_Shift_Del	DEL	C	C	-																															ggcgccttcctcttcccgaaCccccccagcaccaggccggg																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:132628264delC	ENST00000397333.3	-	2	533	c.495delG	c.(493-495)gggfs	p.G165fs	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	165					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TCTTCCCGAACCCCCCCAGCA	0.756																																																	0										13,2521		4,5,1258	3	4	3			1.3	0.1	12		3	24,6238		7,10,3114	no	frameshift	DDX51	NM_175066.3		11,15,4372	A1A1,A1R,RR		0.3833,0.513,0.4206			132628264	37,8759	1456	3450	4906	SO:0001589	frameshift_variant	0			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.495delG	12.37:g.132628264delC	ENSP00000380495:p.Gly165fs		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F166fs	ENST00000397333.3	37	c.495	CCDS41865.1	12																																																																																			DDX51	-	NULL	ENSG00000185163		0.756	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	HGNC	protein_coding	OTTHUMT00000398978.1		0	13	0	C	NM_175066		132628264	-1			no_errors	ENST00000397333	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.359	0	-	132628264	C	-	132628264	7	5	135	1	0	1	0	1	0	0	0	0	4378	494	18	0	1561	0	DDX51	12	132628264	Frame_Shift_Del	DEL	C	TCGA-LN-A9FR-01A-11D-A387-09	9129733	132628264	1223631	113	34760											
MPHOSPH8	54737	genome.wustl.edu	37	chr13	20207922	20207922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagggagcaagggtgaccGcagtccctgtgtcagctgcc	7	6	16	12	2	1	1	1	1	0	0	2	3	2	3	3	3	3	3	3	3	1	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr13:20207922G>A	ENST00000361479.5	+	1	102	c.34G>A	c.(34-36)Gca>Aca	p.A12T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A12T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	12					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)		AAGGGTGACCGCAGTCCCTGT	0.622																																																	0													46	35	39					13																	20207922		2201	4299	6500	SO:0001583	missense	0			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.34G>A	13.37:g.20207922G>A	ENSP00000355388:p.Ala12Thr		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.A12T	ENST00000361479.5	37	c.34	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495660	0.44352	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.41758	0.99;1.03	4.76	2.07	0.26955	.	1.511360	0.03820	N	0.267291	T	0.27313	0.0670	N	0.16656	0.425	0.09310	N	1	B;B;B	0.27498	0.016;0.18;0.136	B;B;B	0.15484	0.004;0.013;0.009	T	0.18053	-1.0349	10	0.38643	T	0.18	.	6.3587	0.21417	0.2318:0.133:0.6353:0.0	.	12;12;12	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	T	12	ENSP00000414663:A12T;ENSP00000355388:A12T	ENSP00000355388:A12T	A	+	1	0	MPHOSPH8	19105922	0.080000	0.21391	0.001000	0.08648	0.020000	0.10135	2.042000	0.41222	0.320000	0.23234	0.561000	0.74099	GCA	MPHOSPH8	-	NULL	ENSG00000196199		0.622	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	-	0	66	0	G	NM_017520		20207922	1	tier1	-	no_errors	ENST00000414242	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.001	A	A	20207922	G	A	20207922	3	1	135	1	0	0	0	0	1	0	0	0	9765	1087	38	1	36	1	MPHOSPH8	13	20207922	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09		20207922	94961956	114	34761											
RBM26	64062	genome.wustl.edu	37	chr13	79928659	79928659	+	Missense_Mutation	SNP	T	T	A	0	1	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	ccagccgctctttgactgacTgcttcacaacaggcaaaatg	11	9	8	13	1	2	2	1	2	1	0	2	2	2	2	2	1	3	3	2	1	3	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr13:79928659T>A	ENST00000438737.2	-	13	2341	c.1901A>T	c.(1900-1902)cAg>cTg	p.Q634L	RBM26_ENST00000267229.7_Missense_Mutation_p.Q631L|RBM26_ENST00000438724.1_Missense_Mutation_p.Q634L			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	634					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTTGACTGACTGCTTCACAAC	0.453																																																	0													71	69	70					13																	79928659		2203	4300	6503	SO:0001583	missense	0			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1901A>T	13.37:g.79928659T>A	ENSP00000387531:p.Gln634Leu		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.Q634L	ENST00000438737.2	37	c.1901		13	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478697	0.63849	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	D;D	0.93712	-3.27;-3.27	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95582	0.8564	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.62365	0.99;0.991;0.985;0.991	D;P;P;P	0.69824	0.966;0.895;0.787;0.895	D	0.95069	0.8202	9	.	.	.	-9.7352	16.1251	0.81386	0.0:0.0:0.0:1.0	.	15;634;634;631	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	L	631;635;634;634	ENSP00000267229:Q631L;ENSP00000390222:Q634L	.	Q	-	2	0	RBM26	78826660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.310000	0.78947	2.267000	0.75376	0.477000	0.44152	CAG	RBM26	-	NULL	ENSG00000139746		0.453	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4		0	34	0	T	NM_022118		79928659	-1			no_errors	ENST00000438724	ensembl	human	known	74_37	missense	28.57	10	4	SNP	1.000	A	A	79928659	T	A	79928659	3	1	135	1	0	0	0	0	1	0	0	0	13171	1580	55	5	1086	5	RBM26	13	79928659	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	59720737	79928659	35241219	115	34762											
LTBP2	4053	genome.wustl.edu	37	chr14	74973428	74973428	+	Missense_Mutation	SNP	T	T	C	0	1	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	gtcccagcctgagggagagaTctcgaagccctggtcacaga	10	6	13	12	1	2	3	1	1	1	2	4	6	3	4	3	2	2	0	3	2	1	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr14:74973428T>C	ENST00000261978.4	-	27	4392	c.4006A>G	c.(4006-4008)Atc>Gtc	p.I1336V	LTBP2_ENST00000556690.1_Missense_Mutation_p.I1292V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1336	Cys-rich.|EGF-like 15; 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)		GAGGGAGAGATCTCGAAGCCC	0.617																																																	0													78	65	69					14																	74973428		2203	4300	6503	SO:0001583	missense	0				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.4006A>G	14.37:g.74973428T>C	ENSP00000261978:p.Ile1336Val		Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.I1336V	ENST00000261978.4	37	c.4006	CCDS9831.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.09|11.09	1.535785|1.535785	0.27475|0.27475	.|.	.|.	ENSG00000119681|ENSG00000119681	ENST00000556206|ENST00000261978;ENST00000556690	.|D;D	.|0.91464	.|-2.85;-2.85	4.54|4.54	2.15|2.15	0.27550|0.27550	.|EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|1.087620	.|0.07229	.|N	.|0.862261	T|T	0.79787|0.79787	0.4506|0.4506	N|N	0.10945|0.10945	0.07|0.07	0.09310|0.09310	N|N	0.999995|0.999995	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.65067|0.65067	-0.6258|-0.6258	5|10	.|0.18710	.|T	.|0.47	.|.	7.4744|7.4744	0.27368|0.27368	0.0:0.246:0.0:0.754|0.0:0.246:0.0:0.754	.|.	.|1336	.|Q14767	.|LTBP2_HUMAN	G|V	227|1336;1292	.|ENSP00000261978:I1336V;ENSP00000451477:I1292V	.|ENSP00000261978:I1336V	D|I	-|-	2|1	0|0	LTBP2|LTBP2	74043181|74043181	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.938000|0.938000	0.57974|0.57974	1.359000|1.359000	0.34113|0.34113	0.806000|0.806000	0.34183|0.34183	0.374000|0.374000	0.22700|0.22700	GAT|ATC	LTBP2	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000119681		0.617	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	-	0	47	0	T	NM_000428		74973428	-1	tier1	-	no_errors	ENST00000261978	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.988	C	C	74973428	T	C	74973428	3	2	135	1	0	0	0	0	1	0	0	0	9109	1435	50	4	1499	4	LTBP2	14	74973428	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09		74973428	32376112	116	34763											
AHSA1	10598	genome.wustl.edu	37	chr14	77924544	77924544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagagccgatggccaagtgGggtgagggagacccacgctg	9	4	19	9	2	0	3	0	1	0	2	0	6	0	3	3	5	1	1	3	5	1	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr14:77924544G>T	ENST00000216479.3	+	1	172	c.12G>T	c.(10-12)tgG>tgT	p.W4C	VIPAS39_ENST00000448935.2_5'Flank|VIPAS39_ENST00000556412.1_5'Flank|AHSA1_ENST00000555517.1_Missense_Mutation_p.W4C|VIPAS39_ENST00000327028.4_5'Flank|VIPAS39_ENST00000553888.1_5'Flank|VIPAS39_ENST00000557658.1_5'Flank|AHSA1_ENST00000535854.2_Missense_Mutation_p.W4C|VIPAS39_ENST00000343765.2_5'Flank|VIPAS39_ENST00000556909.1_5'Flank	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	4					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)		TGGCCAAGTGGGGTGAGGGAG	0.687																																																	0													17	12	14					14																	77924544		2055	4024	6079	SO:0001583	missense	0			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.12G>T	14.37:g.77924544G>T	ENSP00000216479:p.Trp4Cys		B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N	p.W4C	ENST00000216479.3	37	c.12	CCDS9863.1	14	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706898	0.89018	.	.	ENSG00000100591	ENST00000216479;ENST00000535854;ENST00000555517	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.89664	0.3879	9	0.72032	D	0.01	-5.7921	17.8844	0.88849	0.0:0.0:1.0:0.0	.	4;4	B4DUR9;O95433	.;AHSA1_HUMAN	C	4	.	ENSP00000216479:W4C	W	+	3	0	AHSA1	76994297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.191000	0.94940	2.471000	0.83476	0.655000	0.94253	TGG	AHSA1	-	NULL	ENSG00000100591		0.687	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSA1	HGNC	protein_coding	OTTHUMT00000414017.1	-	0	71	0	G	NM_012111		77924544	1	tier1	-	no_errors	ENST00000216479	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	77924544	G	T	77924544	3	4	135	1	0	0	0	0	1	0	0	0	418	1241	43	3	14	3	AHSA1	14	77924544	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	2951116	77924544	29424996	117	34764											
AQR	9716	genome.wustl.edu	37	chr15	35178780	35178780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtatatgaggcatctcctgGaacccctagactcttttgca	9	12	9	11	0	2	2	0	1	2	1	3	3	2	3	3	3	2	3	3	3	4	5			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr15:35178780G>T	ENST00000156471.5	-	25	2989	c.2764C>A	c.(2764-2766)Cca>Aca	p.P922T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	922					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)		GCATCTCCTGGAACCCCTAGA	0.363																																																	0													117	120	119					15																	35178780		1818	4087	5905	SO:0001583	missense	0			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.2764C>A	15.37:g.35178780G>T	ENSP00000156471:p.Pro922Thr		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.P922T	ENST00000156471.5	37	c.2764	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	G	18.15	3.558863	0.65538	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94000	-3.33	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.91064	0.7188	L	0.40543	1.245	0.80722	D	1	B	0.15719	0.014	B	0.20184	0.028	D	0.86843	0.2018	10	0.52906	T	0.07	-12.0595	19.3689	0.94477	0.0:0.0:1.0:0.0	.	922	O60306	AQR_HUMAN	T	922	ENSP00000156471:P922T	ENSP00000156471:P922T	P	-	1	0	AQR	32966072	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.752000	0.98900	2.652000	0.90054	0.491000	0.48974	CCA	AQR	-	superfamily_P-loop_NTPase	ENSG00000021776		0.363	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	-	0	65	0	G	NM_014691		35178780	-1	tier1	-	no_errors	ENST00000156471	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	T	T	35178780	G	T	35178780	3	4	135	1	0	0	0	0	1	0	0	0	835	1174	41	3	1737	3	AQR	15	35178780	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09		35178780	67352612	118	34765											
RFX7	64864	genome.wustl.edu	37	chr15	56386135	56386135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattcccaaacctctcactGcatcatcattgtcggaatca	11	12	4	14	1	5	0	5	0	1	0	8	1	6	1	2	1	2	1	2	1	2	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr15:56386135G>A	ENST00000559447.2	-	9	3771	c.3500C>T	c.(3499-3501)gCa>gTa	p.A1167V	RFX7_ENST00000317318.6_Missense_Mutation_p.A1264V|RFX7_ENST00000422057.1_Missense_Mutation_p.A1167V|RFX7_ENST00000423270.1_Missense_Mutation_p.A1264V			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1167					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						ACCTCTCACTGCATCATCATT	0.418																																																	0													94	86	88					15																	56386135		1880	4106	5986	SO:0001583	missense	0					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.3500C>T	15.37:g.56386135G>A	ENSP00000453281:p.Ala1167Val		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.A1264V	ENST00000559447.2	37	c.3791		15	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675981	0.47886	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.58652	0.33;0.32;0.33	6.17	6.17	0.99709	.	0.117196	0.56097	D	0.000022	T	0.50752	0.1634	L	0.27053	0.805	0.43390	D	0.995507	B;B	0.31383	0.058;0.321	B;B	0.31812	0.033;0.136	T	0.51204	-0.8735	10	0.87932	D	0	-11.2236	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1167;1167	Q2KHR2;C9JU50	RFX7_HUMAN;.	V	1167;1264;1264	ENSP00000387504:A1167V;ENSP00000313299:A1264V;ENSP00000397644:A1264V	ENSP00000313299:A1264V	A	-	2	0	RFX7	54173427	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.196000	0.65136	2.941000	0.99782	0.655000	0.94253	GCA	RFX7	-	NULL	ENSG00000181827		0.418	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	-	0	45	0	G	NM_022841		56386135	-1	tier1	-	no_errors	ENST00000423270	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	A	A	56386135	G	A	56386135	3	1	135	1	0	0	0	0	1	0	0	0	13313	1319	46	3	595	3	RFX7	15	56386135	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	21207355	56386135	46145257	119	34766											
SGK269	79834	genome.wustl.edu	37	chr15	77472942	77472942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttactgcttgcccagcaaCatctgtagaggctttacttt	8	14	9	10	0	1	1	0	0	1	1	1	1	1	1	1	2	6	5	1	2	4	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr15:77472942C>T	ENST00000560626.2	-	4	1802	c.1327G>A	c.(1327-1329)Gtt>Att	p.V443I	PEAK1_ENST00000558305.1_Missense_Mutation_p.V443I|PEAK1_ENST00000312493.4_Missense_Mutation_p.V443I			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	443					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)										TGCCCAGCAACATCTGTAGAG	0.463																																																	0													205	193	197					15																	77472942		1965	4162	6127	SO:0001583	missense	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.1327G>A	15.37:g.77472942C>T	ENSP00000452796:p.Val443Ile		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.V443I	ENST00000560626.2	37	c.1327	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	0.233	-1.019325	0.02078	.	.	ENSG00000173517	ENST00000312493	T	0.42900	0.96	5.5	-1.12	0.09808	.	0.789044	0.09167	N	0.839432	T	0.17023	0.0409	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30031	-0.9992	10	0.12766	T	0.61	-0.7765	6.8677	0.24102	0.0:0.4606:0.151:0.3884	.	443	Q9H792	PEAK1_HUMAN	I	443	ENSP00000309230:V443I	ENSP00000309230:V443I	V	-	1	0	AC087465.1	75259997	0.782000	0.28689	0.014000	0.15608	0.864000	0.49448	1.221000	0.32503	0.074000	0.16767	-0.378000	0.06908	GTT	PEAK1	-	NULL	ENSG00000173517		0.463	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	HGNC	protein_coding	OTTHUMT00000419483.3	-	0	71	0	C			77472942	-1	tier1	-	no_errors	ENST00000312493	ensembl	human	known	74_37	missense	40.91	26	18	SNP	0.000	T	T	77472942	C	T	77472942	3	4	135	1	0	0	0	0	1	0	0	0	14256	478	17	3	3929	3	SGK269	15	77472942	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	21086807	77472942	25058450	120	34767											
PRSS22	64063	genome.wustl.edu	37	chr16	2906218	2906218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctcgccgcccacaaccCggttcagctgctggggcttc	4	9	11	17	3	1	0	1	0	0	0	4	0	2	0	4	3	3	4	4	3	1	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr16:2906218C>T	ENST00000161006.3	-	3	211	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	PRSS22_ENST00000574768.1_5'UTR|PRSS22_ENST00000571228.1_Missense_Mutation_p.R49Q|LA16c-325D7.1_ENST00000577140.1_RNA	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	49						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCCCACAACCCGGTTCAGCTG	0.602																																																	0													60	59	59					16																	2906218		2198	4300	6498	SO:0001583	missense	0			AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"Serine peptidases / Serine peptidases"	14368	protein-coding gene	gene with protein product	"brain-specific serine protease 4"	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.146G>A	16.37:g.2906218C>T	ENSP00000161006:p.Arg49Gln		O43342|Q6UXE0	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.R49Q	ENST00000161006.3	37	c.146	CCDS10481.1	16	.	.	.	.	.	.	.	.	.	.	c	17.27	3.347500	0.61183	.	.	ENSG00000005001	ENST00000161006	D	0.84873	-1.91	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.48286	D	0.000184	D	0.88328	0.6407	L	0.36672	1.1	0.20196	N	0.999922	D	0.69078	0.997	D	0.70227	0.968	T	0.82248	-0.0551	10	0.72032	D	0.01	.	15.5428	0.76070	0.0:1.0:0.0:0.0	.	49	Q9GZN4	BSSP4_HUMAN	Q	49	ENSP00000161006:R49Q	ENSP00000161006:R49Q	R	-	2	0	PRSS22	2846219	0.967000	0.33354	0.707000	0.30419	0.825000	0.46686	4.034000	0.57289	2.261000	0.74972	0.456000	0.33151	CGG	PRSS22	-	superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1	ENSG00000005001		0.602	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS22	HGNC	protein_coding	OTTHUMT00000250943.1	-	0	61	0	C	NM_022119		2906218	-1	tier1	-	no_errors	ENST00000161006	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.704	T	T	2906218	C	T	2906218	3	4	135	1	0	0	0	0	1	0	0	0	12661	652	23	1	823	1	PRSS22	16	2906218	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09		2906218	87448535	121	34768											
PMM2	5373	genome.wustl.edu	37	chr16	8895707	8895707	+	Frame_Shift_Del	DEL	A	A	-																															aaaaattgaggcagaagatcAaaatcggagtggtaggcgga																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr16:8895707delA	ENST00000268261.4	+	2	184	c.118delA	c.(118-120)aaafs	p.K40fs	PMM2_ENST00000569958.1_Frame_Shift_Del_p.K40fs|PMM2_ENST00000537352.1_5'UTR|PMM2_ENST00000566983.1_Frame_Shift_Del_p.K13fs|PMM2_ENST00000539622.1_5'UTR	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	40					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						GCAGAAGATCAAAATCGGAGT	0.363																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)												0													61	61	61					16																	8895707		2197	4300	6497	SO:0001589	frameshift_variant	0			BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"phosphomannose isomerase 1"	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.118delA	16.37:g.8895707delA	ENSP00000268261:p.Lys40fs		A8K672|B7Z6R0|D3DUF3	Frame_Shift_Del	DEL	pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB	p.I41fs	ENST00000268261.4	37	c.118	CCDS10536.1	16																																																																																			PMM2	-	pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB	ENSG00000140650		0.363	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMM2	HGNC	protein_coding	OTTHUMT00000251904.1		0	75	0	A	NM_000303		8895707	1	tier1		no_errors	ENST00000268261	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000	-	-	8895707	A	-	8895707	7	5	135	1	0	1	0	1	0	0	0	0	12176	131	5	0	124	0	PMM2	16	8895707	Frame_Shift_Del	DEL	A	TCGA-LN-A9FR-01A-11D-A387-09	5989489	8895707	81459046	122	34769											
HIRIP3	8479	genome.wustl.edu	37	chr16	30005705	30005705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgggtttccaatcccccTtttcctcatcctcttctttc	3	19	3	16	0	4	0	1	0	3	0	9	0	8	0	5	1	0	1	5	1	1	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr16:30005705T>C	ENST00000279392.3	-	4	1591	c.761A>G	c.(760-762)aAg>aGg	p.K254R	INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567254.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	254					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)		p.K254R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CCAAtcccccttttcctcatc	0.517																																																	1	Substitution - Missense(1)	endometrium(1)											179	153	162					16																	30005705		2197	4300	6497	SO:0001583	missense	0			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.761A>G	16.37:g.30005705T>C	ENSP00000279392:p.Lys254Arg		H3BSR3|O75707|O75708	Missense_Mutation	SNP	pfam_Histone_chaperone_domain_CHZ	p.K254R	ENST00000279392.3	37	c.761	CCDS10664.1	16	.	.	.	.	.	.	.	.	.	.	T	6.056	0.378710	0.11466	.	.	ENSG00000149929	ENST00000279392	T	0.32515	1.45	2.21	-1.04	0.10068	.	0.560809	0.14782	N	0.298705	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.29336	-1.0015	10	0.09843	T	0.71	-0.8097	2.7668	0.05322	0.2182:0.1522:0.0:0.6296	.	254	Q9BW71	HIRP3_HUMAN	R	254	ENSP00000279392:K254R	ENSP00000279392:K254R	K	-	2	0	HIRIP3	29913206	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.327000	0.07955	-0.202000	0.10268	-0.456000	0.05471	AAG	HIRIP3	-	NULL	ENSG00000149929		0.517	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRIP3	HGNC	protein_coding	OTTHUMT00000255160.2		0	98	0	T	NM_003609		30005705	-1			no_errors	ENST00000279392	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	C	C	30005705	T	C	30005705	3	2	135	1	0	0	0	0	1	0	0	0	7148	1609	56	4	925	4	HIRIP3	16	30005705	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	21109998	30005705	60349048	123	34770											
TMEM188	255919	genome.wustl.edu	37	chr16	50059594	50059594	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatccctgattcctgcggtgGtttccggtaactgccaaggt	6	13	11	11	2	0	1	0	1	0	0	3	1	3	1	4	4	3	2	4	4	3	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr16:50059594G>T	ENST00000427478.2	+	1	79				CNEP1R1_ENST00000458059.3_Missense_Mutation_p.V20F|CNEP1R1_ENST00000565556.1_5'UTR|CNEP1R1_ENST00000562576.1_Intron|CNEP1R1_ENST00000567712.1_3'UTR	NM_001281789.1	NP_001268718.1	Q8N9A8	NEPR1_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1						lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965)											TCCTGCGGTGGTTTCCGGTAA	0.498																																																	0													91	89	89					16																	50059594		1892	4125	6017	SO:0001627	intron_variant	0			AK095420	CCDS45480.1, CCDS61931.1	16q12.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000205423	ENSG00000205423			26759	protein-coding gene	gene with protein product	"nuclear envelope phosphatase 1-regulatory subunit 1"		"chromosome 16 open reading frame 69", "transmembrane protein 188"	C16orf69, TMEM188		22134922	Standard	NM_153261		Approved	FLJ38101, NEP1-R1	uc002eft.3	Q8N9A8		ENST00000427478.2:c.25+343G>T	16.37:g.50059594G>T			Q4G1A9|Q5H9V0|Q8NE06	Missense_Mutation	SNP	pfam_Transmembrane_protein_188	p.V20F	ENST00000427478.2	37	c.58		16	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676059	0.67928	.	.	ENSG00000205423	ENST00000458059	.	.	.	3.58	2.61	0.31194	.	.	.	.	.	T	0.23289	0.0563	N	0.08118	0	0.19300	N	0.999971	B	0.15141	0.012	B	0.14578	0.011	T	0.19063	-1.0317	8	0.59425	D	0.04	.	8.6944	0.34287	0.0:0.0:0.5896:0.4104	.	20	Q8N9A8-2	.	F	20	.	ENSP00000405635:V20F	V	+	1	0	TMEM188	48617095	0.018000	0.18449	0.019000	0.16419	0.633000	0.38033	1.092000	0.30927	1.063000	0.40649	0.462000	0.41574	GTT	CNEP1R1	-	NULL	ENSG00000205423		0.498	CNEP1R1-201	KNOWN	basic|appris_principal	protein_coding	CNEP1R1	HGNC	protein_coding			0	68	0	G	NM_153261		50059594	1			no_errors	ENST00000458059	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.020	T	T	50059594	G	T	50059594	1	4	135	0	1	0	0	0	0	0	0	0	16157	1261	44	3		3	TMEM188	16	50059594	Intron	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	20053889	50059594	40295159	124	34771											
SLC7A6	84138	genome.wustl.edu	37	chr16	68331203	68331203	+	IGR	DEL	A	A	-																															tgagcttgatgtagccgaagAaaaaaaggatgagaggaaaa																								rs370195278		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr16:68331203delA	ENST00000263997.6	-	0	4189				SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.E507fs|SLC7A6_ENST00000566454.1_Frame_Shift_Del_p.E507fs	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand						hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		GTAGCCGAAGAAAAAAAGGAT	0.478																																																	0													88	84	86					16																	68331203		2198	4300	6498	SO:0001628	intergenic_variant	0				CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558		16.37:g.68331203delA			Q8TCZ3|Q9H8R8	Frame_Shift_Del	DEL	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.K509fs	ENST00000263997.6	37	c.1520	CCDS10865.1	16																																																																																			SLC7A6	-	NULL	ENSG00000103064		0.478	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A6	HGNC	protein_coding	OTTHUMT00000268894.3		0	62	0	A	NM_032178		68331203	1	tier1		no_errors	ENST00000219343	ensembl	human	known	74_37	frame_shift_del	9.09	30	3	DEL	0.821	-	-	68331203	A	-	68331203	6	5	135	0	1	1	0	1	0	0	0	0	14746	246	9	0		0	SLC7A6	16	68331203	IGR	DEL	A	TCGA-LN-A9FR-01A-11D-A387-09	18271609	68331203	22023550	125	34772											
PITPNM3	83394	genome.wustl.edu	37	chr17	6380423	6380423	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgctctgtttccgcggcaaCggcctcttgggctcctcatc	3	12	10	16	4	3	0	1	0	2	0	7	0	5	0	3	3	1	4	3	3	1	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:6380423C>T	ENST00000262483.8	-	9	1098	c.1011G>A	c.(1009-1011)ccG>ccA	p.P337P	PITPNM3_ENST00000421306.3_Silent_p.P301P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	337					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCCGCGGCAACGGCCTCTTGG	0.592																																																	0													128	98	108					17																	6380423		2203	4300	6503	SO:0001819	synonymous_variant	0			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1011G>A	17.37:g.6380423C>T			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.P337	ENST00000262483.8	37	c.1011	CCDS11076.1	17																																																																																			PITPNM3	-	NULL	ENSG00000091622		0.592	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	-	0	46	0	C	NM_031220		6380423	-1	tier1	-	no_errors	ENST00000262483	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.934	T	T	6380423	C	T	6380423	2	4	135	1	0	0	0	0	0	0	0	1	11991	523	19	1		1	PITPNM3	17	6380423	Silent	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09		6380423	74814787	126	34773											
TP53	7157	genome.wustl.edu	37	chr17	7577084	7577084	+	Missense_Mutation	SNP	T	T	A	0	1	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	tcttgcggagattctcttccTctgtgcgccggtctctccca	3	14	9	15	3	4	1	0	0	4	1	8	2	6	1	3	2	2	0	3	2	0	3	rs121912667		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:7577084T>A	ENST00000269305.4	-	8	1043	c.854A>T	c.(853-855)gAg>gTg	p.E285V	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.E285V|TP53_ENST00000359597.4_Missense_Mutation_p.E285V|TP53_ENST00000445888.2_Missense_Mutation_p.E285V|TP53_ENST00000420246.2_Missense_Mutation_p.E285V	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	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E285V(15)|p.0?(8)|p.E285G(5)|p.?(2)|p.E285A(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATTCTCTTCCTCTGTGCGCCG	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"	46	Substitution - Missense(22)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	liver(7)|upper_aerodigestive_tract(5)|lung(5)|soft_tissue(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|biliary_tract(1)|salivary_gland(1)|skin(1)|ovary(1)	GRCh37	CM083790	TP53	M	rs121912667						92	79	83					17																	7577084		2203	4300	6503	SO:0001583	missense	0	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.854A>T	17.37:g.7577084T>A	ENSP00000269305:p.Glu285Val		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E285V	ENST00000269305.4	37	c.854	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367808	0.82463	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97;-6.97;-6.97	4.99	4.99	0.66335	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	0.99792	0.9912	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.999;0.999	D;D;D;D	0.85130	0.994;0.976;0.994;0.997	D	0.96880	0.9645	10	0.87932	D	0	-38.0538	12.6799	0.56916	0.0:0.0:0.0:1.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	285;285;285;285;285;274;153	ENSP00000352610:E285V;ENSP00000269305:E285V;ENSP00000398846:E285V;ENSP00000391127:E285V;ENSP00000391478:E285V;ENSP00000425104:E153V	ENSP00000269305:E285V	E	-	2	0	TP53	7517809	1.000000	0.71417	0.939000	0.37840	0.649000	0.38597	7.802000	0.85969	2.085000	0.62840	0.379000	0.24179	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	52	0	T	NM_000546		7577084	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	A	A	7577084	T	A	7577084	3	1	135	1	0	0	0	0	1	0	0	0	16429	1551	54	5	432	5	TP53	17	7577084	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	1196661	7577084	73618126	127	34774											
TP53	7157	genome.wustl.edu	37	chr17	7578290	7578290	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgaggaggggccagacCtaagagcaatcagtgaggaa	14	5	15	7	0	1	4	1	2	0	2	1	6	1	6	2	4	2	2	2	4	3	1			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:7578290C>G	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(40)|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)	GGGGCCAGACCTAAGAGCAAT	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"	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	GRCh37	CD043957|CS011574|CS083991	TP53	D|S							82	74	76					17																	7578290		2203	4300	6503	SO:0001630	splice_region_variant	0	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.560-1G>C	17.37:g.7578290C>G			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	-	e5-1	ENST00000269305.4	37	c.560-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	8.588	0.883886	0.17467	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.	TP53	-	-	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	53	0	C	NM_000546	Intron	7578290	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	19.23	21	5	SNP	1.000	G	G	7578290	C	G	7578290	5	3	135	1	0	0	0	0	0	0	1	0	16429	695	24	5	735	5	TP53	17	7578290	Splice_Site	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	1206	7578290	73616920	128	34775											
USP43	124739	genome.wustl.edu	37	chr17	9631606	9631606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagaggtccagccggggtgCcctgtccctcggctcaaccc	7	6	12	16	2	1	1	1	0	0	1	4	1	3	1	5	4	3	1	5	4	2	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:9631606C>T	ENST00000285199.7	+	15	2767	c.2671C>T	c.(2671-2673)Ccc>Tcc	p.P891S	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.P886S	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	891					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGCCGGGGTGCCCTGTCCCTC	0.582																																																	0													25	28	27					17																	9631606		1990	4146	6136	SO:0001583	missense	0			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2671C>T	17.37:g.9631606C>T	ENSP00000285199:p.Pro891Ser		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P891S	ENST00000285199.7	37	c.2671	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275629	0.23307	.	.	ENSG00000154914	ENST00000285199	T	0.09630	2.96	5.1	0.556	0.17253	.	24.164500	0.00166	N	0.000000	T	0.09818	0.0241	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.14438	0.001;0.0;0.003;0.01	B;B;B;B	0.10450	0.001;0.002;0.002;0.005	T	0.29366	-1.0014	10	0.17832	T	0.49	-14.8222	1.6126	0.02697	0.1779:0.4845:0.1538:0.1838	.	886;580;891;403	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	S	891	ENSP00000285199:P891S	ENSP00000285199:P891S	P	+	1	0	USP43	9572331	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-1.173000	0.03108	0.326000	0.23384	-0.150000	0.13652	CCC	USP43	-	NULL	ENSG00000154914		0.582	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3		0	30	0	C	NM_153210		9631606	1			no_errors	ENST00000285199	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.000	T	T	9631606	C	T	9631606	3	4	135	1	0	0	0	0	1	0	0	0	17123	739	26	3	2729	3	USP43	17	9631606	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	2053316	9631606	71563604	129	34776											
DNAH9	1770	genome.wustl.edu	37	chr17	11523027	11523027	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagagaaccaggaagtcaagGaatgggatttccagtcttct	14	9	11	7	0	3	1	1	0	2	1	4	5	4	4	2	3	1	0	2	3	5	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:11523027G>T	ENST00000262442.4	+	6	1347	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E427*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	427	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)		GGAAGTCAAGGAATGGGATTT	0.502																																																	0													137	130	132					17																	11523027		2203	4300	6503	SO:0001587	stop_gained	0			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.1279G>T	17.37:g.11523027G>T	ENSP00000262442:p.Glu427*		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E427*	ENST00000262442.4	37	c.1279	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.794829	0.96952	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	5.98	5.01	0.66863	.	0.619175	0.17047	N	0.189079	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.1669	0.37056	0.2192:0.0:0.7808:0.0	.	.	.	.	X	427	.	ENSP00000262442:E427X	E	+	1	0	DNAH9	11463752	0.002000	0.14202	0.247000	0.24249	0.994000	0.84299	1.123000	0.31308	1.526000	0.49068	0.591000	0.81541	GAA	DNAH9	-	pfam_Dynein_heavy_dom-1	ENSG00000007174		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0	31	0	G	NM_001372		11523027	1			no_errors	ENST00000262442	ensembl	human	known	74_37	nonsense	12.50	21	3	SNP	0.052	T	T	11523027	G	T	11523027	4	4	135	1	0	0	0	0	0	1	0	0	4622	1175	41	3	1301	3	DNAH9	17	11523027	Nonsense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	1891421	11523027	69672183	130	34777											
COX10	1352	genome.wustl.edu	37	chr17	14063220	14063220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgccatttgactcaaaCatgaataggacaaagaacag	17	7	10	7	0	1	3	1	2	0	1	1	5	1	4	1	2	3	0	1	2	5	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:14063220C>T	ENST00000261643.3	+	5	728	c.651C>T	c.(649-651)aaC>aaT	p.N217N	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Silent_p.N25N	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	217					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)		TTGACTCAAACATGAATAGGA	0.338																																																	0													85	77	80					17																	14063220		2203	4300	6503	SO:0001819	synonymous_variant	0			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.651C>T	17.37:g.14063220C>T			B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	p.N217	ENST00000261643.3	37	c.651	CCDS11166.1	17																																																																																			COX10	-	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	ENSG00000006695		0.338	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX10	HGNC	protein_coding	OTTHUMT00000130003.1	-	0	49	0	C	NM_001303		14063220	1	tier1	-	no_errors	ENST00000261643	ensembl	human	known	74_37	silent	30.56	25	11	SNP	1.000	T	T	14063220	C	T	14063220	2	4	135	1	0	0	0	0	0	0	0	1	3769	477	17	3		3	COX10	17	14063220	Silent	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	2540193	14063220	67131990	131	34778											
SGK494	124923	genome.wustl.edu	37	chr17	26938412	26938412	+	Splice_Site	DEL	T	T	-																															actactactattctctcaccTttccagtcgccagagagaaa																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:26938412delT	ENST00000301037.5	-	10	898	c.899delA	c.(898-900)aag>ag	p.K300fs	SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.6_ENST00000579019.2_RNA|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000534850.1_3'UTR	NM_001174103.1	NP_001167574.1	Q96LW2	SG494_HUMAN		0							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTCTCTCACCTTTCCAGTCGC	0.483																																																	0																																										SO:0001630	splice_region_variant	0																														ENST00000301037.5:c.900+1A>-	17.37:g.26938412delT			B4DFP4|Q49A48	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K300fs	ENST00000301037.5	37	c.899		17																																																																																			SGK494	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000167524		0.483	SGK494-017	KNOWN	basic|appris_principal	protein_coding	SGK494	Clone_based_vega_gene	protein_coding	OTTHUMT00000451486.1		0	51	0	T		Frame_Shift_Del	26938412	-1	tier1		no_errors	ENST00000301037	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	1.000	-	-	26938412	T	-	26938412	8	5	135	1	0	1	0	1	0	0	1	0	14258	1623	56	0	345	0	SGK494	17	26938412	Splice_Site	DEL	T	TCGA-LN-A9FR-01A-11D-A387-09	12875192	26938412	54256798	132	34779											
CDC6	990	genome.wustl.edu	37	chr17	38457118	38457118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgattcccaagagggttGgtcttattcacatatcccaa	10	13	7	11	0	3	2	1	1	2	1	5	2	5	2	2	2	0	1	2	2	4	5			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:38457118G>T	ENST00000209728.4	+	10	1759	c.1288G>T	c.(1288-1290)Ggt>Tgt	p.G430C	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	430					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CAAGAGGGTTGGTCTTATTCA	0.403																																																	0													203	193	196					17																	38457118		2203	4300	6503	SO:0001583	missense	0			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1288G>T	17.37:g.38457118G>T	ENSP00000209728:p.Gly430Cys		Q8TB30	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18	p.G430C	ENST00000209728.4	37	c.1288	CCDS11365.1	17	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668518	0.67814	.	.	ENSG00000094804	ENST00000209728	T	0.38401	1.14	5.82	3.78	0.43462	.	0.162163	0.64402	D	0.000019	T	0.49660	0.1570	M	0.64997	1.995	0.39018	D	0.959691	D	0.76494	0.999	D	0.64237	0.923	T	0.52555	-0.8560	10	0.51188	T	0.08	-13.5156	8.0534	0.30591	0.2546:0.0:0.7454:0.0	.	430	Q99741	CDC6_HUMAN	C	430	ENSP00000209728:G430C	ENSP00000209728:G430C	G	+	1	0	CDC6	35710644	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	2.808000	0.47963	1.399000	0.46721	0.655000	0.94253	GGT	CDC6	-	pirsf_Cell_div_Cdc6/18	ENSG00000094804		0.403	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC6	HGNC	protein_coding	OTTHUMT00000257129.1	-	0	55	0	G			38457118	1	tier1	-	no_errors	ENST00000209728	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.999	T	T	38457118	G	T	38457118	3	4	135	1	0	0	0	0	1	0	0	0	3090	1348	47	3	1322	3	CDC6	17	38457118	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	11518706	38457118	42738092	133	34780											
BRCA1	672	genome.wustl.edu	37	chr17	41219693	41219693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtgatgtggtgttttctgGcaaacttgtacacgagcatc	10	13	11	7	1	1	1	0	1	1	0	2	2	1	1	0	2	3	4	0	2	3	4	rs80357938		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:41219693G>T	ENST00000357654.3	-	16	5124	c.5006C>A	c.(5005-5007)gCc>gAc	p.A1669D	BRCA1_ENST00000352993.3_Missense_Mutation_p.A527D|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.A1373D|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.A486D|BRCA1_ENST00000468300.1_Missense_Mutation_p.A565D|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A1690D|BRCA1_ENST00000493795.1_Missense_Mutation_p.A1622D|BRCA1_ENST00000491747.2_Missense_Mutation_p.A565D|BRCA1_ENST00000591534.1_Missense_Mutation_p.A160D	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1669	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				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)		GTGTTTTCTGGCAAACTTGTA	0.353			"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	123	124					17																	41219693		2202	4300	6502	SO:0001583	missense	0	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.5006C>A	17.37:g.41219693G>T	ENSP00000350283:p.Ala1669Asp		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.A1690D	ENST00000357654.3	37	c.5069	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171173	0.57584	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.24	5.24	0.73138	BRCT (4);	0.000000	0.51477	D	0.000098	D	0.88239	0.6383	M	0.67953	2.075	0.45676	D	0.998597	D;D;D;D;D;D;D;D	0.89917	1.0;0.985;1.0;0.999;1.0;1.0;0.966;1.0	D;D;D;D;D;D;P;D	0.97110	0.999;0.968;1.0;0.993;0.999;1.0;0.864;1.0	D	0.89095	0.3485	10	0.87932	D	0	.	14.6742	0.68967	0.0:0.0:1.0:0.0	.	565;518;564;566;565;1691;1669;1669	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	D	1669;1690;527;486;1373;565;518;1691;1622;564;565;440;519	ENSP00000350283:A1669D;ENSP00000312236:A527D;ENSP00000338007:A486D;ENSP00000310938:A1373D;ENSP00000417148:A565D;ENSP00000377294:A518D;ENSP00000418775:A1622D;ENSP00000420412:A565D;ENSP00000419481:A440D;ENSP00000418819:A519D	ENSP00000310938:A1373D	A	-	2	0	BRCA1	38473219	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	3.802000	0.55553	2.600000	0.87896	0.555000	0.69702	GCC	BRCA1	-	pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000012048		0.353	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	-	0	42	0	G	NM_007294		41219693	-1	tier1	-	no_errors	ENST00000471181	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	41219693	G	T	41219693	3	4	135	1	0	0	0	0	1	0	0	0	1502	1203	42	3	617	3	BRCA1	17	41219693	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	2762575	41219693	39975517	134	34781											
ACBD4	79777	genome.wustl.edu	37	chr17	43216519	43216519	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggagagcatgccccggcccCctgagcaggtagagtccccc	7	5	13	16	1	0	3	0	1	0	2	1	4	1	3	6	3	3	3	6	3	1	1			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:43216519C>T	ENST00000376955.4	+	9	1068	c.771C>T	c.(769-771)ccC>ccT	p.P257P	ACBD4_ENST00000321854.8_Missense_Mutation_p.P261S|ACBD4_ENST00000398322.3_Missense_Mutation_p.P261S|ACBD4_ENST00000431281.1_Silent_p.P273P|ACBD4_ENST00000592162.1_Intron|ACBD4_ENST00000586346.1_Silent_p.P273P|ACBD4_ENST00000591859.1_Silent_p.P273P	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	257							fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						GCCCCGGCCCCCTGAGCAGGT	0.592																																																	0													31	40	37					17																	43216519		2014	4180	6194	SO:0001819	synonymous_variant	0			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.771C>T	17.37:g.43216519C>T			D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.P261S	ENST00000376955.4	37	c.781	CCDS45711.1	17	.	.	.	.	.	.	.	.	.	.	C	8.080	0.772196	0.16051	.	.	ENSG00000181513	ENST00000398322	T	0.10382	2.88	5.94	2.59	0.31030	.	0.319507	0.29486	N	0.012006	T	0.07954	0.0199	.	.	.	0.34375	D	0.692441	B	0.20988	0.05	B	0.21917	0.037	T	0.12734	-1.0536	9	0.36615	T	0.2	.	9.053	0.36387	0.0:0.5197:0.4014:0.0789	.	261	Q8NC06-2	.	S	261	ENSP00000381367:P261S	ENSP00000381367:P261S	P	+	1	0	ACBD4	40572045	0.000000	0.05858	0.155000	0.22561	0.050000	0.14768	0.185000	0.16958	1.512000	0.48834	0.561000	0.74099	CCT	ACBD4	-	NULL	ENSG00000181513		0.592	ACBD4-006	KNOWN	basic|CCDS	protein_coding	ACBD4	HGNC	protein_coding	OTTHUMT00000449816.1	-	0	100	0	C	NM_024722		43216519	1	tier1	-	no_errors	ENST00000321854	ensembl	human	known	74_37	missense	23.61	55	17	SNP	0.219	T	T	43216519	C	T	43216519	2	4	135	1	0	0	0	0	0	0	0	1	124	623	22	3		3	ACBD4	17	43216519	Silent	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	1996826	43216519	37978691	135	34782											
TRIM25	7706	genome.wustl.edu	37	chr17	54978858	54978858	+	Missense_Mutation	SNP	T	T	A	0	1	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	gtctatggtgctctggtggaTgccttttatcagcttgtggt	4	17	13	7	0	3	0	1	0	2	0	3	1	3	1	1	4	3	2	1	4	2	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:54978858T>A	ENST00000316881.4	-	4	1058	c.1009A>T	c.(1009-1011)Atc>Ttc	p.I337F	TRIM25_ENST00000537230.1_Missense_Mutation_p.I337F	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	337	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)					CTCTGGTGGATGCCTTTTATC	0.547																																																	0													437	387	404					17																	54978858		2203	4300	6503	SO:0001583	missense	0			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.1009A>T	17.37:g.54978858T>A	ENSP00000323889:p.Ile337Phe			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.I337F	ENST00000316881.4	37	c.1009	CCDS11591.1	17	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435372	0.43224	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.69175	-0.38;-0.38	5.53	-1.86	0.07760	.	0.696409	0.13578	N	0.377528	T	0.51856	0.1699	L	0.53249	1.67	0.09310	N	1	B	0.33919	0.432	B	0.31751	0.135	T	0.37776	-0.9691	10	0.23891	T	0.37	.	5.9479	0.19229	0.1204:0.4403:0.0:0.4392	.	337	Q14258	TRI25_HUMAN	F	337	ENSP00000323889:I337F;ENSP00000445961:I337F	ENSP00000323889:I337F	I	-	1	0	TRIM25	52333857	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.259000	0.02861	-0.112000	0.11979	-0.375000	0.07067	ATC	TRIM25	-	NULL	ENSG00000121060		0.547	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM25	HGNC	protein_coding	OTTHUMT00000440609.1	-	0	60	0	T	NM_005082		54978858	-1	tier1	-	no_errors	ENST00000316881	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.000	A	A	54978858	T	A	54978858	3	1	135	1	0	0	0	0	1	0	0	0	16547	1464	51	5	907	5	TRIM25	17	54978858	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	11762339	54978858	26216352	136	34783											
APOH	350	genome.wustl.edu	37	chr17	64219888	64219888	+	Frame_Shift_Del	DEL	A	A	-																															agaatcagcgccattcagatAaaacctgcaaaaggaaaatt																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:64219888delA	ENST00000205948.6	-	4	380	c.343delT	c.(343-345)tatfs	p.Y115fs		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	115	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CCATTCAGATAAAACCTGCAA	0.433																																					Melanoma(155;624 1882 16869 48804 51309)												0													76	77	77					17																	64219888		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.343delT	17.37:g.64219888delA	ENSP00000205948:p.Tyr115fs		B2R9M3|Q9UCN7	Frame_Shift_Del	DEL	pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Y115fs	ENST00000205948.6	37	c.343	CCDS11663.1	17																																																																																			APOH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000091583		0.433	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1		0	56	0	A	NM_000042		64219888	-1	tier1		no_errors	ENST00000205948	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	0.995	-	-	64219888	A	-	64219888	7	5	135	1	0	1	0	1	0	0	0	0	804	362	13	0	714	0	APOH	17	64219888	Frame_Shift_Del	DEL	A	TCGA-LN-A9FR-01A-11D-A387-09	9241030	64219888	16975322	137	34784											
MGAT5B	146664	genome.wustl.edu	37	chr17	74928738	74928738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggctgcagctcatacccccGacaactccttcatgggcttc	7	9	9	16	1	2	0	2	0	0	0	4	1	3	0	3	2	4	4	3	2	2	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:74928738G>A	ENST00000569840.2	+	11	1877	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	MGAT5B_ENST00000428789.2_Missense_Mutation_p.D446N|MGAT5B_ENST00000301618.4_Missense_Mutation_p.D435N	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	435					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						TCATACCCCCGACAACTCCTT	0.627																																																	0													98	87	91					17																	74928738		2203	4300	6503	SO:0001583	missense	0			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.1303G>A	17.37:g.74928738G>A	ENSP00000456037:p.Asp435Asn		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.D446N	ENST00000569840.2	37	c.1336	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275005	0.80580	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.73258	-0.7;-0.73	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.85797	0.1371	10	0.72032	D	0.01	-48.8023	13.905	0.63828	0.0:0.0:1.0:0.0	.	446;435	Q3V5L5-2;Q3V5L5-5	.;.	N	435;446	ENSP00000301618:D435N;ENSP00000391227:D446N	ENSP00000301618:D435N	D	+	1	0	MGAT5B	72440333	1.000000	0.71417	0.992000	0.48379	0.559000	0.35586	9.413000	0.97351	1.910000	0.55303	0.462000	0.41574	GAC	MGAT5B	-	NULL	ENSG00000167889		0.627	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	-	0	46	0	G	NM_144677		74928738	1	tier1	-	no_errors	ENST00000428789	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.999	A	A	74928738	G	A	74928738	3	1	135	1	0	0	0	0	1	0	0	0	9587	1058	37	1	1446	1	MGAT5B	17	74928738	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	10708850	74928738	6266472	138	34785											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14852390	14852390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaaaagaacgtatagatCaatatgaaaaagagaaagca	23	8	7	3	1	1	4	1	1	0	3	1	5	1	4	0	0	2	2	0	0	10	5			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr18:14852390C>A	ENST00000358984.4	+	36	4270	c.4090C>A	c.(4090-4092)Caa>Aaa	p.Q1364K		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1364										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACGTATAGATCAATATGAAAA	0.303																																																	0													6	5	5					18																	14852390		666	1467	2133	SO:0001583	missense	0			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.4090C>A	18.37:g.14852390C>A	ENSP00000351875:p.Gln1364Lys		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q1364K	ENST00000358984.4	37	c.4090	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	C	4.167	0.029523	0.08054	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.14144	2.53	1.39	0.41	0.16387	.	.	.	.	.	T	0.10809	0.0264	L	0.42632	1.34	0.26359	N	0.977083	B;B	0.19817	0.008;0.039	B;B	0.15870	0.002;0.014	T	0.27773	-1.0064	9	0.44086	T	0.13	.	5.5965	0.17329	0.5746:0.4254:0.0:0.0	.	1449;1364	Q9BXX2;F8WAG3	AN30B_HUMAN;.	K	1364;758;784	ENSP00000351875:Q1364K	ENSP00000277669:Q784K	Q	+	1	0	ANKRD30B	14842390	1.000000	0.71417	0.554000	0.28268	0.058000	0.15608	1.728000	0.38105	0.120000	0.18254	0.173000	0.16961	CAA	ANKRD30B	-	NULL	ENSG00000180777		0.303	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1		0	50	0	C	NM_001145029		14852390	1			no_errors	ENST00000358984	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.485	A	A	14852390	C	A	14852390	3	1	135	1	0	0	0	0	1	0	0	0	659	827	29	3	4232	3	ANKRD30B	18	14852390	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09		14852390	63224858	139	34786											
TTR	7276	genome.wustl.edu	37	chr18	29175162	29175162	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatatacaaagtggaaataGacaccaaatcttactggaag	18	8	9	6	0	1	1	0	0	1	1	1	4	1	4	1	3	2	0	1	3	8	4			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr18:29175162G>C	ENST00000237014.3	+	3	457	c.280G>C	c.(280-282)Gac>Cac	p.D94H		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	94			D -> H.		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)	p.D94Y(1)		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)	AGTGGAAATAGACACCAAATC	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)											127	105	112					18																	29175162		2203	4300	6503	SO:0001583	missense	0			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.280G>C	18.37:g.29175162G>C	ENSP00000237014:p.Asp94His		Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase	p.D94H	ENST00000237014.3	37	c.280	CCDS11899.1	18	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980718	0.53827	.	.	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.96168	-3.93	5.54	4.67	0.58626	Transthyretin/hydroxyisourate hydrolase, superfamily (4);	0.047372	0.85682	D	0.000000	D	0.97331	0.9127	M	0.77406	2.37	0.58432	D	0.999996	D	0.89917	1.0	D	0.71414	0.973	D	0.97931	1.0320	10	0.87932	D	0	-37.8382	14.5695	0.68202	0.0712:0.0:0.9288:0.0	.	94	P02766	TTHY_HUMAN	H	94	ENSP00000237014:D94H	ENSP00000237014:D94H	D	+	1	0	TTR	27429160	1.000000	0.71417	0.997000	0.53966	0.373000	0.29922	5.788000	0.69020	1.481000	0.48307	-0.137000	0.14449	GAC	TTR	-	pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase	ENSG00000118271		0.453	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTR	HGNC	protein_coding	OTTHUMT00000254948.1		0	87	0	G	NM_000371		29175162	1			no_errors	ENST00000237014	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	C	C	29175162	G	C	29175162	3	2	135	1	0	0	0	0	1	0	0	0	16787	942	33	5	290	5	TTR	18	29175162	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	14322772	29175162	48902086	140	34787											
CDH20	28316	genome.wustl.edu	37	chr18	59170238	59170238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagaagccaaagaatactaCgaagtgattatccaagccaa	19	6	8	8	1	0	3	0	1	0	2	1	5	1	3	3	0	4	0	3	0	9	3	rs370206160		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr18:59170238C>T	ENST00000262717.4	+	5	1112	c.714C>T	c.(712-714)taC>taT	p.Y238Y	CDH20_ENST00000536675.2_Silent_p.Y238Y|CDH20_ENST00000538374.1_Silent_p.Y238Y			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AAGAATACTACGAAGTGATTA	0.443											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C		0,4406		0,0,2203	169	151	157		714	-4	1	18		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH20	NM_031891.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		238/802	59170238	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.714C>T	18.37:g.59170238C>T		1036	Q495S3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y238	ENST00000262717.4	37	c.714	CCDS11977.1	18																																																																																			CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000101542		0.443	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2		0	83	0	C	NM_031891		59170238	1			no_errors	ENST00000262717	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.959	T	T	59170238	C	T	59170238	2	4	135	1	0	0	0	0	0	0	0	1	3113	547	19	1		1	CDH20	18	59170238	Silent	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	29995076	59170238	18907010	141	34788											
EEF2	1938	genome.wustl.edu	37	chr19	3982335	3982335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccttggcggcgaacttggCcacatacatctcggcaaact	9	8	9	15	3	1	0	0	0	1	0	2	1	1	0	3	4	3	1	3	4	3	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:3982335C>A	ENST00000309311.6	-	5	788	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	234	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAACTTGGCCACATACATC	0.617																																					Colon(165;1804 1908 4071 6587 18799)												0													87	84	85					19																	3982335		2203	4300	6503	SO:0001583	missense	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.700G>T	19.37:g.3982335C>A	ENSP00000307940:p.Ala234Ser		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.A234S	ENST00000309311.6	37	c.700	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469321	0.43839	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.26660	1.72	5.81	4.78	0.61160	Protein synthesis factor, GTP-binding (1);	0.053959	0.64402	D	0.000001	T	0.13586	0.0329	N	0.10645	0.015	0.58432	D	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.08638	-1.0712	10	0.17832	T	0.49	-65.1744	13.9528	0.64129	0.0:0.9272:0.0:0.0728	.	234	P13639	EF2_HUMAN	S	234	ENSP00000307940:A234S	ENSP00000307940:A234S	A	-	1	0	EEF2	3933335	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.837000	0.55820	1.466000	0.48025	0.561000	0.74099	GCC	EEF2	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000167658		0.617	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	-	0	39	0	C	NM_001961		3982335	-1	tier1	-	no_errors	ENST00000309311	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	A	A	3982335	C	A	3982335	3	1	135	1	0	0	0	0	1	0	0	0	4943	739	26	3	1920	3	EEF2	19	3982335	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09		3982335	55146648	142	34789											
KDM4B	23030	genome.wustl.edu	37	chr19	5119803	5119805	+	In_Frame_Del	DEL	GAG	GAG	-																															ctgggccggaggttgaccccGaggaggaggaggaggagccg																								rs147027017		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:5119803_5119805delGAG	ENST00000159111.4	+	11	1473_1475	c.1255_1257delGAG	c.(1255-1257)gagdel	p.E424del	KDM4B_ENST00000536461.1_In_Frame_Del_p.E458del	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	424					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						GGTTGACCCCGAGGAGGAGGAGG	0.709																																																	0										64,3356		3,58,1649						-8.8	0.3		dbSNP_134	10	119,6617		9,101,3258	no	coding	KDM4B	NM_015015.2		12,159,4907	A1A1,A1R,RR		1.7666,1.8713,1.8019				183,9973				SO:0001651	inframe_deletion	0			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.1255_1257delGAG	19.37:g.5119812_5119814delGAG	ENSP00000159111:p.Glu424del		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	In_Frame_Del	DEL	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E422in_frame_del	ENST00000159111.4	37	c.1255_1257	CCDS12138.1	19																																																																																			KDM4B	-	NULL	ENSG00000127663		0.709	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1		0	30	0	GAG	NM_015015		5119805	1	tier1		no_errors	ENST00000159111	ensembl	human	known	74_37	in_frame_del	18.18	9	2	DEL	0.988:1.000:1.000	-	-	5119805	GAG	-	5119803	7	5	135	1	0	1	0	1	0	0	0	0	8156	1059	37	0	1289	0	KDM4B	19	5119803	In_Frame_Del	DEL	GAG	TCGA-LN-A9FR-01A-11D-A387-09	1137468	5119803	54009180	143	34790											
ZNF136	7695	genome.wustl.edu	37	chr19	12298428	12298428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatttcgaatacatgaaaGaactcacactggagagaaac	17	8	7	9	1	1	3	1	1	0	2	3	6	2	4	1	1	3	0	1	1	5	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:12298428G>T	ENST00000343979.4	+	4	1375	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ZNF136_ENST00000398616.2_Missense_Mutation_p.R346I	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	412					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						ATACATGAAAGAACTCACACT	0.368																																																	0													66	62	63					19																	12298428		2203	4300	6503	SO:0001583	missense	0			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.1235G>T	19.37:g.12298428G>T	ENSP00000344162:p.Arg412Ile			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R412I	ENST00000343979.4	37	c.1235	CCDS32916.1	19	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130146	0.77549	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.24908	1.83;1.83	1.25	0.182	0.15077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46034	0.1372	M	0.82193	2.58	0.33320	D	0.567197	D	0.76494	0.999	D	0.66847	0.947	T	0.55921	-0.8064	8	.	.	.	.	6.8511	0.24014	0.1737:0.0:0.8263:0.0	.	412	P52737	ZN136_HUMAN	I	412;346	ENSP00000344162:R412I;ENSP00000381617:R346I	.	R	+	2	0	ZNF136	12159428	0.000000	0.05858	0.606000	0.28943	0.993000	0.82548	-0.504000	0.06375	0.089000	0.17243	0.655000	0.94253	AGA	ZNF136	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196646		0.368	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF136	HGNC	protein_coding	OTTHUMT00000344151.2		0	65	0	G	NM_003437		12298428	1			no_errors	ENST00000343979	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.999	T	T	12298428	G	T	12298428	3	4	135	1	0	0	0	0	1	0	0	0	17774	942	33	3	1249	3	ZNF136	19	12298428	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	7178625	12298428	46830555	144	34791											
ZNF443	10224	genome.wustl.edu	37	chr19	12541473	12541473	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccacattccttacactCatatggcttctctccagtgt	7	16	4	14	0	2	0	1	0	1	0	6	0	5	0	3	1	1	1	3	1	2	5			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:12541473C>A	ENST00000301547.5	-	4	1710	c.1513G>T	c.(1513-1515)Gag>Tag	p.E505*	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	505					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCCTTACACTCATATGGCTTC	0.393																																																	0													78	79	79					19																	12541473		2202	4300	6502	SO:0001587	stop_gained	0			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1513G>T	19.37:g.12541473C>A	ENSP00000301547:p.Glu505*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E505*	ENST00000301547.5	37	c.1513	CCDS32918.1	19	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168400	0.57584	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	.	.	.	1.33	-2.65	0.06095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	1.437	0.02345	0.1614:0.3304:0.3233:0.185	.	.	.	.	X	505	.	ENSP00000301547:E505X	E	-	1	0	ZNF443	12402473	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-5.363000	0.00128	-1.521000	0.01771	-0.514000	0.04452	GAG	ZNF443	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180855		0.393	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	-	0	59	0	C	NM_005815		12541473	-1	tier1	-	no_errors	ENST00000301547	ensembl	human	known	74_37	nonsense	16.67	20	4	SNP	0.007	A	A	12541473	C	A	12541473	4	1	135	1	0	0	0	0	0	1	0	0	17964	835	29	3	506	3	ZNF443	19	12541473	Nonsense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	243045	12541473	46587510	145	34792											
STX10	8677	genome.wustl.edu	37	chr19	13255457	13255457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgcgggactgggtgtggtCcatctcttgggcgaaggcat	6	10	16	9	2	1	0	0	0	1	0	3	2	2	1	1	5	1	1	1	5	1	1			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:13255457C>A	ENST00000587230.1	-	7	671	c.607G>T	c.(607-609)Gac>Tac	p.D203Y	STX10_ENST00000343587.5_Missense_Mutation_p.D154Y|STX10_ENST00000242770.5_Missense_Mutation_p.W201C|STX10_ENST00000589083.1_Missense_Mutation_p.D203Y	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	203	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TGGGTGTGGTCCATCTCTTGG	0.632																																																	0													91	79	83					19																	13255457		2203	4300	6503	SO:0001583	missense	0			AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.607G>T	19.37:g.13255457C>A	ENSP00000466298:p.Asp203Tyr		A6NC41|Q6IAP4|Q96AE8	Missense_Mutation	SNP	pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.D203Y	ENST00000587230.1	37	c.607	CCDS32922.1	19	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577861	0.65878	.	.	ENSG00000104915	ENST00000343587;ENST00000242770;ENST00000440593	.	.	.	4.3	4.3	0.51218	Target SNARE coiled-coil domain (3);	0.222293	0.33110	N	0.005277	D	0.84763	0.5544	M	0.92923	3.36	0.58432	D	0.999997	D;D	0.89917	0.997;1.0	D;D	0.72982	0.935;0.979	D	0.88727	0.3234	9	0.87932	D	0	.	14.2836	0.66228	0.0:1.0:0.0:0.0	.	154;203	O60499-2;O60499	.;STX10_HUMAN	Y	154;203;203	.	ENSP00000242770:D203Y	D	-	1	0	STX10	13116457	1.000000	0.71417	0.988000	0.46212	0.861000	0.49209	4.186000	0.58337	2.208000	0.71279	0.462000	0.41574	GAC	STX10	-	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000104915		0.632	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STX10	HGNC	protein_coding	OTTHUMT00000452918.1	-	0	25	0	C	NM_003765		13255457	-1	tier1	-	no_errors	ENST00000587230	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	A	A	13255457	C	A	13255457	3	1	135	1	0	0	0	0	1	0	0	0	15383	855	30	3	149	3	STX10	19	13255457	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	713984	13255457	45873526	146	34793											
UNC13A	23025	genome.wustl.edu	37	chr19	17759280	17759280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtcctggcacttctcGtggcacttgacaccgcactc	7	9	10	15	2	1	1	0	1	1	0	4	1	2	1	2	3	1	4	2	3	0	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:17759280G>T	ENST00000519716.2	-	16	1775	c.1776C>A	c.(1774-1776)caC>caA	p.H592Q	UNC13A_ENST00000551649.1_Missense_Mutation_p.H592Q|UNC13A_ENST00000552293.1_Missense_Mutation_p.H592Q|UNC13A_ENST00000550896.1_Missense_Mutation_p.H590Q|UNC13A_ENST00000252773.7_Missense_Mutation_p.H592Q|UNC13A_ENST00000428389.2_Missense_Mutation_p.H680Q	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	592					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						GGCACTTCTCGTGGCACTTGA	0.701																																																	0													54	57	56					19																	17759280		2201	4298	6499	SO:0001583	missense	0			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.1776C>A	19.37:g.17759280G>T	ENSP00000429562:p.His592Gln		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.H680Q	ENST00000519716.2	37	c.2040	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	g	19.48	3.835587	0.71373	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.99557	-6.16;-6.16;-6.16;-6.16;-6.16;-6.16	4.03	1.79	0.24919	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	U	0.000000	D	0.99658	0.9873	H	0.98664	4.295	0.42059	D	0.991158	D	0.76494	0.999	D	0.70487	0.969	D	0.98288	1.0512	10	0.87932	D	0	-31.4707	3.7192	0.08449	0.2134:0.0:0.5919:0.1947	.	592	Q9UPW8	UN13A_HUMAN	Q	592;680;592;592;592;590	ENSP00000429562:H592Q;ENSP00000400409:H680Q;ENSP00000252773:H592Q;ENSP00000447236:H592Q;ENSP00000447572:H592Q;ENSP00000446831:H590Q	ENSP00000252773:H592Q	H	-	3	2	UNC13A	17620280	0.997000	0.39634	1.000000	0.80357	0.960000	0.62799	0.322000	0.19576	0.268000	0.21939	0.486000	0.48141	CAC	UNC13A	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000130477		0.701	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0	54	0	G	XM_038604		17759280	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	T	T	17759280	G	T	17759280	3	4	135	1	0	0	0	0	1	0	0	0	17033	1136	40	2	3447	2	UNC13A	19	17759280	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	4503823	17759280	41369703	147	34794											
ISYNA1	51477	genome.wustl.edu	37	chr19	18546480	18546480	+	Missense_Mutation	SNP	T	T	A	0	1	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	cacgtacggcacatacttgaTgaccacctggagtgcagcag	11	7	11	12	2	0	2	0	2	0	0	0	3	0	3	2	2	4	4	2	2	2	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:18546480T>A	ENST00000338128.8	-	9	1364	c.1147A>T	c.(1147-1149)Atc>Ttc	p.I383F	ISYNA1_ENST00000317018.6_Missense_Mutation_p.I181F|ISYNA1_ENST00000457269.4_Missense_Mutation_p.I329F|ISYNA1_ENST00000578963.1_Missense_Mutation_p.I255F|ISYNA1_ENST00000545187.1_Missense_Mutation_p.I233F	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	383					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						ACATACTTGATGACCACCTGG	0.667																																																	0													57	44	48					19																	18546480		2201	4300	6501	SO:0001583	missense	0				CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"myo-inositol 1-phosphate synthase"	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.1147A>T	19.37:g.18546480T>A	ENSP00000337746:p.Ile383Phe		B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase	p.I383F	ENST00000338128.8	37	c.1147	CCDS12379.1	19	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390618	0.82902	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	4.27	3.22	0.36961	Myo-inositol-1-phosphate synthase, GAPDH-like (1);	0.000000	0.85682	D	0.000000	D	0.85362	0.5679	H	0.96943	3.91	0.52501	D	0.999956	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	D	0.87173	0.2222	9	0.87932	D	0	-40.2223	8.4026	0.32594	0.0:0.104:0.0:0.896	.	181;329;383;233	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	F	383;329;233;181	.	ENSP00000315147:I181F	I	-	1	0	ISYNA1	18407480	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.385000	0.66231	1.708000	0.51301	0.459000	0.35465	ATC	ISYNA1	-	pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase	ENSG00000105655		0.667	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ISYNA1	HGNC	protein_coding	OTTHUMT00000444469.2	-	0	33	0	T	NM_016368		18546480	-1	tier1	-	no_errors	ENST00000338128	ensembl	human	known	74_37	missense	30.77	9	4	SNP	1.000	A	A	18546480	T	A	18546480	3	1	135	1	0	0	0	0	1	0	0	0	7894	1464	51	5	541	5	ISYNA1	19	18546480	Missense_Mutation	SNP	T	TCGA-LN-A9FR-01A-11D-A387-09	787200	18546480	40582503	148	34795											
ZNF254	9534	genome.wustl.edu	37	chr19	24310230	24310230	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatttatatggtcctcaacCctaactagacataagaggat	14	11	7	9	0	1	2	1	0	0	2	2	3	2	3	2	2	2	1	2	2	6	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:24310230C>A	ENST00000357002.4	+	4	1543	c.1428C>A	c.(1426-1428)acC>acA	p.T476T	ZNF254_ENST00000342944.6_Silent_p.T391T	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	476					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)				GGTCCTCAACCCTAACTAGAC	0.393																																																	0													61	61	61					19																	24310230		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1428C>A	19.37:g.24310230C>A			A4QPC0|Q86XL7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T476	ENST00000357002.4	37	c.1428	CCDS32983.1	19																																																																																			ZNF254	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213096		0.393	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1		0	68	0	C	NM_004876		24310230	1			no_errors	ENST00000357002	ensembl	human	known	74_37	silent	17.86	46	10	SNP	0.001	A	A	24310230	C	A	24310230	2	1	135	1	0	0	0	0	0	0	0	1	17846	610	22	3		3	ZNF254	19	24310230	Silent	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	5763750	24310230	34818753	149	34796											
CYP2A13	1553	genome.wustl.edu	37	chr19	41596050	41596050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagcgcggcatcgaggaaCgcatccaggaggaggcgggc	10	2	18	11	5	0	0	0	0	0	0	2	4	1	3	1	6	2	3	1	6	2	0	rs146067729		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:41596050C>A	ENST00000330436.3	+	3	442	c.442C>A	c.(442-444)Cgc>Agc	p.R148S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	148					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)	CATCGAGGAACGCATCCAGGA	0.692																																																	0								-	SER/ARG	0,4404		0,0,2202	32	33	32		442	3.3	1	19	dbSNP_134	32	1,8599		0,1,4299	no	missense	CYP2A13	NM_000766.3	110	0,1,6501	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	148/495	41596050	1,13003	2202	4300	6502	SO:0001583	missense	0			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.442C>A	19.37:g.41596050C>A	ENSP00000332679:p.Arg148Ser		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.R148S	ENST00000330436.3	37	c.442	CCDS12571.1	19	.	.	.	.	.	.	.	.	.	.	.	13.16	2.154200	0.38021	0.0	1.16E-4	ENSG00000197838	ENST00000330436	T	0.69685	-0.42	3.27	3.27	0.37495	.	0.066533	0.64402	U	0.000010	T	0.72415	0.3457	L	0.35542	1.07	0.25147	N	0.990452	D	0.89917	1.0	D	0.83275	0.996	T	0.65573	-0.6135	10	0.87932	D	0	.	14.0174	0.64531	0.0:1.0:0.0:0.0	.	148	Q16696	CP2AD_HUMAN	S	148	ENSP00000332679:R148S	ENSP00000332679:R148S	R	+	1	0	CYP2A13	46287890	0.312000	0.24545	0.998000	0.56505	0.002000	0.02628	0.319000	0.19522	1.884000	0.54569	0.264000	0.19307	CGC	CYP2A13	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197838		0.692	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A13	HGNC	protein_coding	OTTHUMT00000463505.1	-	0	98	0	C	NM_000766		41596050	1	tier1	rs146067729	no_errors	ENST00000330436	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.971	A	A	41596050	C	A	41596050	3	1	135	1	0	0	0	0	1	0	0	0	4170	536	19	2	452	2	CYP2A13	19	41596050	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	17285820	41596050	17532933	150	34797											
CEACAM5	1048	genome.wustl.edu	37	chr19	42221564	42221564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctcactctactcagtgtCacaaggaatgatgtaggacc	12	9	8	12	0	4	1	3	1	1	0	4	3	4	3	2	2	1	1	2	2	4	2	rs528850947		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:42221564C>T	ENST00000221992.6	+	5	1263	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.V383V|CEACAM5_ENST00000398599.4_Silent_p.V382V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	383	Ig-like 4.				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)		TACTCAGTGTCACAAGGAATG	0.493																																																	0													224	206	212					19																	42221564		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1149C>T	19.37:g.42221564C>T			H9KVA7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V383	ENST00000221992.6	37	c.1149	CCDS12584.1	19	.	.	.	.	.	.	.	.	.	.	C	1.900	-0.453402	0.04540	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.45	-0.312	0.12758	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26467	-1.0102	4	.	.	.	.	3.5881	0.07978	0.0:0.5747:0.2557:0.1696	.	.	.	.	Y	379	.	.	H	+	1	0	CEACAM5	46913404	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.863000	0.04259	0.278000	0.22164	-0.310000	0.09108	CAC	CEACAM5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000105388		0.493	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	HGNC	protein_coding	OTTHUMT00000321132.2	-	0	143	0	C	NM_004363		42221564	1	tier1	-	no_errors	ENST00000221992	ensembl	human	known	74_37	silent	16.22	61	12	SNP	0.004	T	T	42221564	C	T	42221564	2	4	135	1	0	0	0	0	0	0	0	1	3202	813	29	3		3	CEACAM5	19	42221564	Silent	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	625514	42221564	16907419	151	34798											
ARHGEF1	9138	genome.wustl.edu	37	chr19	42406492	42406492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgaggagatcggagacGtgctgctggcccgggtgaga	8	7	17	9	4	1	3	1	1	0	3	3	7	1	3	1	4	2	2	1	4	0	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:42406492G>A	ENST00000354532.3	+	16	1631	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.V477M|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.V510M|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.V462M|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.V551M	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	495	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GATCGGAGACGTGCTGCTGGC	0.647																																																	0													61	57	58					19																	42406492		2203	4300	6503	SO:0001583	missense	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1483G>A	19.37:g.42406492G>A	ENSP00000346532:p.Val495Met		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V510M	ENST00000354532.3	37	c.1528	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108719	0.56291	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.25	4.25	0.50352	Dbl homology (DH) domain (5);	0.250049	0.33272	N	0.005081	T	0.69726	0.3143	L	0.31294	0.92	0.31883	N	0.618257	P;D;D;D;P	0.89917	0.661;1.0;1.0;1.0;0.796	B;D;D;D;B	0.76575	0.387;0.973;0.97;0.988;0.31	T	0.72427	-0.4297	10	0.46703	T	0.11	-27.5557	10.6247	0.45500	0.0:0.1961:0.8039:0.0	.	154;477;510;462;495	Q49AN3;Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;.;ARHG1_HUMAN	M	495;462;510;477	ENSP00000346532:V495M;ENSP00000344429:V462M;ENSP00000337261:V510M;ENSP00000367394:V477M	ENSP00000337261:V510M	V	+	1	0	ARHGEF1	47098332	0.001000	0.12720	0.999000	0.59377	0.924000	0.55760	0.553000	0.23391	2.090000	0.63153	0.456000	0.33151	GTG	ARHGEF1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000076928		0.647	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	-	0	49	0	G	NM_199002		42406492	1	tier1	-	no_errors	ENST00000337665	ensembl	human	known	74_37	missense	62.50	3	5	SNP	0.998	A	A	42406492	G	A	42406492	3	1	135	1	0	0	0	0	1	0	0	0	893	1145	40	1	1590	1	ARHGEF1	19	42406492	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	184928	42406492	16722491	152	34799											
NUCB1	4924	genome.wustl.edu	37	chr19	49404095	49404097	+	In_Frame_Del	DEL	GCT	GCT	-																															ggaaccctccttctgttgccGctgctgctgctgctcctgct																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:49404095_49404097delGCT	ENST00000405315.4	+	2	376_378	c.42_44delGCT	c.(40-45)ccgctg>ccg	p.L21del	NUCB1_ENST00000407032.1_In_Frame_Del_p.L21del|NUCB1_ENST00000263273.5_In_Frame_Del_p.L21del|NUCB1_ENST00000485798.1_Intron|TULP2_ENST00000221399.3_5'Flank	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	21						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)		TTctgttgccgctgctgctgctg	0.65																																																	0																																										SO:0001651	inframe_deletion	0			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.42_44delGCT	19.37:g.49404104_49404106delGCT	ENSP00000385923:p.Leu21del		B2RD64|Q15838|Q7Z4J7|Q9BUR1	In_Frame_Del	DEL	pfscan_EF_hand_dom	p.L18in_frame_del	ENST00000405315.4	37	c.42_44	CCDS12740.1	19																																																																																			NUCB1	-	NULL	ENSG00000104805		0.65	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUCB1	HGNC	protein_coding	OTTHUMT00000326545.2		0	93	0	GCT	NM_006184		49404097	1	tier1		no_errors	ENST00000263273	ensembl	human	known	74_37	in_frame_del	8.82	31	3	DEL	0.000:0.000:0.000	-	-	49404097	GCT	-	49404095	7	5	135	1	0	1	0	1	0	0	0	0	10757	1074	38	0	44	0	NUCB1	19	49404095	In_Frame_Del	DEL	GCT	TCGA-LN-A9FR-01A-11D-A387-09	6997603	49404095	9724888	153	34800											
ZNF600	162966	genome.wustl.edu	37	chr19	53269156	53269156	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gttgtgattgttgattaaaaGccttcccacattcattacac	11	15	6	9	0	1	2	1	2	0	0	2	2	2	2	2	0	2	2	2	0	3	7			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:53269156G>T	ENST00000338230.3	-	3	2120	c.1853C>A	c.(1852-1854)gCt>gAt	p.A618D		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	618					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)		TTGATTAAAAGCCTTCCCACA	0.388																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0													121	120	120					19																	53269156		2203	4300	6503	SO:0001583	missense	0			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.1853C>A	19.37:g.53269156G>T	ENSP00000344791:p.Ala618Asp		Q6MZR0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A618D	ENST00000338230.3	37	c.1853	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	7.073	0.568727	0.13560	.	.	ENSG00000189190	ENST00000338230	T	0.36340	1.26	1.58	-3.15	0.05233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33933	0.0880	L	0.60904	1.88	0.09310	N	1	B	0.33044	0.395	B	0.39152	0.292	T	0.31833	-0.9929	9	0.66056	D	0.02	.	6.3235	0.21231	0.3306:0.1502:0.5192:0.0	.	618	Q6ZNG1	ZN600_HUMAN	D	618	ENSP00000344791:A618D	ENSP00000344791:A618D	A	-	2	0	ZNF600	57960968	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.180000	0.03088	-2.131000	0.00815	-2.149000	0.00334	GCT	ZNF600	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189190		0.388	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	HGNC	protein_coding	OTTHUMT00000463093.1	-	0	128	0	G	NM_198457		53269156	-1	tier1	-	no_errors	ENST00000338230	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T	T	53269156	G	T	53269156	3	4	135	1	0	0	0	0	1	0	0	0	18078	971	34	3	319	3	ZNF600	19	53269156	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	3865061	53269156	5859827	154	34801											
SOX12	6666	genome.wustl.edu	37	chr20	307342	307343	+	Frame_Shift_Ins	INS	-	-	C																															tgggctttctgtccaggctgINSccccctggcccggccggcct																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:307342_307343insC	ENST00000342665.2	+	1	1104_1105	c.774_775insC	c.(775-777)cccfs	p.P259fs	RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA|SOX12_ENST00000544632.1_Frame_Shift_Ins_p.P259fs	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	259					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)			TGTCCAGGCTGCCCCCTGGCCC	0.703																																																	0																																										SO:0001589	frameshift_variant	0			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.779dupC	20.37:g.307347_307347dupC	ENSP00000347646:p.Pro259fs		Q5D038|Q9NUD4	Frame_Shift_Ins	INS	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.G260fs	ENST00000342665.2	37	c.774_775	CCDS12995.1	20																																																																																			SOX12	-	pirsf_SOX-12/11/4a	ENSG00000177732		0.703	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX12	HGNC	protein_coding	OTTHUMT00000077435.2		0	30	0	-	NM_006943		307343	1	tier1		no_errors	ENST00000342665	ensembl	human	known	74_37	frame_shift_ins	25.00	6	2	INS	0.997:1.000	C	C	307343	-	C	307342	7	5	135	1	0	1	1	0	0	0	0	0	14988	1306	46	0	776	0	SOX12	20	307342	Frame_Shift_Ins	INS	-	TCGA-LN-A9FR-01A-11D-A387-09		307342	62718178	155	34802											
FASTKD5	60493	genome.wustl.edu	37	chr20	3128170	3128170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccaactgtaccatcgaggGtatatagttccttaaggagg	11	11	11	8	1	0	0	0	0	0	0	2	2	1	1	3	3	3	3	3	3	6	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:3128170G>A	ENST00000380266.3	-	2	1868	c.1547C>T	c.(1546-1548)aCc>aTc	p.T516I	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	516					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACCATCGAGGGTATATAGTTC	0.443																																																	0													47	43	45					20																	3128170		2203	4300	6503	SO:0001583	missense	0			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1547C>T	20.37:g.3128170G>A	ENSP00000369618:p.Thr516Ile		Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.T516I	ENST00000380266.3	37	c.1547	CCDS13048.1	20	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054071	0.36277	.	.	ENSG00000215251	ENST00000380266	T	0.44881	0.91	5.09	5.09	0.68999	FAST kinase-like protein, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.62938	0.2469	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59632	-0.7418	10	0.35671	T	0.21	.	18.8582	0.92262	0.0:0.0:1.0:0.0	.	516	Q7L8L6	FAKD5_HUMAN	I	516	ENSP00000369618:T516I	ENSP00000369618:T516I	T	-	2	0	FASTKD5	3076170	1.000000	0.71417	0.998000	0.56505	0.017000	0.09413	9.495000	0.97964	2.528000	0.85240	0.313000	0.20887	ACC	FASTKD5	-	pfam_FAST_2	ENSG00000215251		0.443	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	HGNC	protein_coding	OTTHUMT00000077701.2		0	14	0	G	NM_021826		3128170	-1			no_errors	ENST00000380266	ensembl	human	known	74_37	missense	16.67	10	2	SNP	1.000	A	A	3128170	G	A	3128170	3	1	135	1	0	0	0	0	1	0	0	0	5710	1261	44	3	751	3	FASTKD5	20	3128170	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	2820828	3128170	59897350	156	34803											
PYGB	5834	genome.wustl.edu	37	chr20	25228820	25228820	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccgccggcgcgatggcGaagccgctgacggacagcga	7	3	16	15	8	0	1	0	1	0	0	1	5	1	2	4	3	2	1	4	3	1	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:25228820G>T	ENST00000216962.4	+	1	116	c.6G>T	c.(4-6)gcG>gcT	p.A2A		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	2				AK -> GE (in Ref. 1 and 2). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GCGCGATGGCGAAGCCGCTGA	0.692																																																	0													21	21	21					20																	25228820		2202	4297	6499	SO:0001819	synonymous_variant	0				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.6G>T	20.37:g.25228820G>T			Q96AK1|Q9NPX8	Silent	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.A2	ENST00000216962.4	37	c.6	CCDS13171.1	20																																																																																			PYGB	-	NULL	ENSG00000100994		0.692	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	-	0	62	0	G	NM_002862		25228820	1	tier1	-	no_errors	ENST00000216962	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.289	T	T	25228820	G	T	25228820	2	4	135	1	0	0	0	0	0	0	0	1	12905	1045	37	2		2	PYGB	20	25228820	Silent	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	22100650	25228820	37796700	157	34804											
KIF3B	9371	genome.wustl.edu	37	chr20	30919073	30919073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcctcctcttcctcaggaaCccctgcatctcagctttatc	6	13	4	18	0	3	0	2	0	2	0	8	1	6	1	5	1	3	2	5	1	2	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:30919073C>T	ENST00000375712.3	+	9	2362	c.2195C>T	c.(2194-2196)aCc>aTc	p.T732I	KIF3B_ENST00000418717.2_Missense_Mutation_p.T358I	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	732	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCTCAGGAACCCCTGCATCT	0.507																																																	0													97	92	94					20																	30919073		2203	4300	6503	SO:0001583	missense	0			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.2195C>T	20.37:g.30919073C>T	ENSP00000364864:p.Thr732Ile		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T732I	ENST00000375712.3	37	c.2195	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	C	8.580	0.882090	0.17467	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.74421	-0.84;0.5	5.2	3.21	0.36854	.	0.367800	0.31577	N	0.007409	T	0.59445	0.2194	L	0.29908	0.895	0.28504	N	0.913856	B;B	0.22414	0.069;0.041	B;B	0.21917	0.037;0.017	T	0.51466	-0.8702	10	0.33141	T	0.24	.	8.5065	0.33190	0.1574:0.7649:0.0:0.0777	.	358;732	B4DSR5;O15066	.;KIF3B_HUMAN	I	732;358	ENSP00000364864:T732I;ENSP00000406287:T358I	ENSP00000364864:T732I	T	+	2	0	KIF3B	30382734	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.318000	0.43779	0.840000	0.34995	0.655000	0.94253	ACC	KIF3B	-	NULL	ENSG00000101350		0.507	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	-	0	45	0	C	NM_004798		30919073	1	tier1	-	no_errors	ENST00000375712	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.998	T	T	30919073	C	T	30919073	3	4	135	1	0	0	0	0	1	0	0	0	8328	507	18	3	2225	3	KIF3B	20	30919073	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	5690253	30919073	32106447	158	34805											
SLC12A5	57468	genome.wustl.edu	37	chr20	44673759	44673759	+	Frame_Shift_Del	DEL	G	G	-																															tgcaggccatctcgagggatGgcattgtgcccttcctgcag																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:44673759delG	ENST00000454036.2	+	12	1667	c.1618delG	c.(1618-1620)ggcfs	p.G540fs	SLC12A5_ENST00000243964.3_Frame_Shift_Del_p.G517fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	540					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)	CTCGAGGGATGGCATTGTGCC	0.632																																																	0													65	64	64					20																	44673759		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1618delG	20.37:g.44673759delG	ENSP00000387694:p.Gly540fs		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Del	DEL	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.G540fs	ENST00000454036.2	37	c.1618	CCDS46610.1	20																																																																																			SLC12A5	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.632	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1		0	40	0	G			44673759	1	tier1		no_errors	ENST00000454036	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	1.000	-	-	44673759	G	-	44673759	7	5	135	1	0	1	0	1	0	0	0	0	14431	1348	47	0	1720	0	SLC12A5	20	44673759	Frame_Shift_Del	DEL	G	TCGA-LN-A9FR-01A-11D-A387-09	13754686	44673759	18351761	159	34806											
CYP24A1	1591	genome.wustl.edu	37	chr20	52781025	52781025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtcccaggccagagtgtgGtcctgccagaccttggtgtt	5	11	14	11	0	0	2	0	0	0	2	2	2	2	2	5	3	1	1	5	3	0	2			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:52781025G>T	ENST00000216862.3	-	6	1203	c.810C>A	c.(808-810)gaC>gaA	p.D270E	CYP24A1_ENST00000395955.3_Missense_Mutation_p.D270E|CYP24A1_ENST00000395954.3_Missense_Mutation_p.D128E	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	270				D -> G (in Ref. 1; AAA62379). {ECO:0000305}.	osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|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 D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCAGAGTGTGGTCCTGCCAGA	0.547																																																	0													238	203	215					20																	52781025		2203	4300	6503	SO:0001583	missense	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.810C>A	20.37:g.52781025G>T	ENSP00000216862:p.Asp270Glu		Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D270E	ENST00000216862.3	37	c.810	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	G	6.368	0.436003	0.12104	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.67865	0.06;-0.29;-0.29	5.66	-9.35	0.00633	.	0.564259	0.19193	N	0.120381	T	0.38026	0.1025	N	0.25992	0.78	0.23685	N	0.997118	B;B;B	0.25235	0.121;0.121;0.121	B;B;B	0.33521	0.165;0.165;0.165	T	0.51818	-0.8657	10	0.02654	T	1	-5.8227	5.7636	0.18213	0.1467:0.5031:0.1894:0.1607	.	270;270;128	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	E	270;270;128	ENSP00000216862:D270E;ENSP00000379285:D270E;ENSP00000379284:D128E	ENSP00000216862:D270E	D	-	3	2	CYP24A1	52214432	0.210000	0.23517	0.199000	0.23439	0.985000	0.73830	-0.473000	0.06615	-1.143000	0.02866	-0.136000	0.14681	GAC	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP24A_mit	ENSG00000019186		0.547	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2		0	86	0	G			52781025	-1			no_errors	ENST00000216862	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.014	T	T	52781025	G	T	52781025	3	4	135	1	0	0	0	0	1	0	0	0	4163	1252	44	3	758	3	CYP24A1	20	52781025	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	8107266	52781025	10244495	160	34807											
PRIC285	85441	genome.wustl.edu	37	chr20	62191586	62191586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctcgccgaagggccttgCtgatctcagaggcctgcgcg	5	8	13	15	4	2	2	1	1	2	1	4	3	2	2	4	2	2	1	4	2	1	1			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:62191586C>T	ENST00000467148.1	-	17	7664	c.7595G>A	c.(7594-7596)aGc>aAc	p.S2532N	HELZ2_ENST00000427522.2_Missense_Mutation_p.S1963N	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2532	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)										AAGGGCCTTGCTGATCTCAGA	0.687																																																	0													37	27	31					20																	62191586		2179	4285	6464	SO:0001583	missense	0			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.7595G>A	20.37:g.62191586C>T	ENSP00000417401:p.Ser2532Asn		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.S2532N	ENST00000467148.1	37	c.7595	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	0.286	-0.982923	0.02180	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.92545	-3.06;-3.06	3.94	-0.32	0.12721	.	0.414271	0.26173	N	0.025914	T	0.80491	0.4633	N	0.15975	0.35	0.24240	N	0.995366	B;B	0.11235	0.004;0.003	B;B	0.15052	0.012;0.003	T	0.66775	-0.5838	10	0.27785	T	0.31	-8.201	6.6484	0.22949	0.0:0.3982:0.0:0.6018	.	2532;1963	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	N	1963;2532	ENSP00000393257:S1963N;ENSP00000417401:S2532N	ENSP00000393257:S1963N	S	-	2	0	RP4-697K14.7	61662030	0.128000	0.22383	0.032000	0.17829	0.195000	0.23768	-0.608000	0.05641	0.187000	0.20147	0.491000	0.48974	AGC	HELZ2	-	superfamily_P-loop_NTPase	ENSG00000130589		0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0	70	0	C	NM_001037335		62191586	-1	tier1	-	no_errors	ENST00000467148	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.864	T	T	62191586	C	T	62191586	3	4	135	1	0	0	0	0	1	0	0	0	12527	797	28	3	366	3	PRIC285	20	62191586	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	9410561	62191586	833934	161	34808											
MED15	51586	genome.wustl.edu	37	chr22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-																															agcagcaacagcagcagttcCagcagcagcagcaggcggcg																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)cagdel	p.Q174del	MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0									,	5,56,4109		0,0,5,0,56,2024					,	3.4	1			20	7,128,7953		0,0,7,0,128,3909	no	codingComplex,codingComplex	MED15	NM_015889.3,NM_001003891.1	,	0,0,12,0,184,5933	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6691,1.4628,1.599	,	,		12,184,12062				SO:0001651	inframe_deletion	0			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.508_510delCAG	22.37:g.20918802_20918804delCAG	ENSP00000263205:p.Gln174del	744	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	pfam_Mediator_Med15_met	p.Q173in_frame_del	ENST00000263205.7	37	c.508_510	CCDS33602.1	22																																																																																			MED15	-	pfam_Mediator_Med15_met	ENSG00000099917		0.616	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2		0	59	0	CAG	NM_015889		20918795	1	tier1		no_errors	ENST00000263205	ensembl	human	known	74_37	in_frame_del	13.04	20	3	DEL	1.000:1.000:0.999	-	-	20918795	CAG	-	20918793	7	5	135	1	0	1	0	1	0	0	0	0	9471	595	21	0	530	0	MED15	22	20918793	In_Frame_Del	DEL	CAG	TCGA-LN-A9FR-01A-11D-A387-09		20918793	30385773	162	34809											
TMPRSS6	164656	genome.wustl.edu	37	chr22	37470670	37470670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcagtttctctcatccaggCcgttggggcagtccttgacc	5	11	11	14	2	2	1	1	1	1	0	5	1	4	1	4	3	0	4	4	3	0	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr22:37470670C>T	ENST00000346753.3	-	12	1564	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.G474D|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G474D|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G474D	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	483	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTCATCCAGGCCGTTGGGGCA	0.602																																																	0													104	92	96					22																	37470670		2203	4300	6503	SO:0001583	missense	0			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1448G>A	22.37:g.37470670C>T	ENSP00000334962:p.Gly483Asp		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.G474D	ENST00000346753.3	37	c.1421	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560618	0.65538	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.85777	2.775	0.53005	D	0.999968	D;P	0.55172	0.97;0.949	P;P	0.51657	0.676;0.476	T	0.69778	-0.5053	10	0.30078	T	0.28	.	12.2138	0.54394	0.0:0.9213:0.0:0.0787	.	474;483	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	D	474;483;474;474	ENSP00000371211:G474D;ENSP00000334962:G483D;ENSP00000385453:G474D;ENSP00000384964:G474D	ENSP00000334962:G483D	G	-	2	0	TMPRSS6	35800616	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	4.164000	0.58190	2.443000	0.82685	0.462000	0.41574	GGC	TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000187045		0.602	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	-	0	33	0	C	NM_153609		37470670	-1	tier1	-	no_errors	ENST00000381792	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	37470670	C	T	37470670	3	4	135	1	0	0	0	0	1	0	0	0	16298	739	26	3	1015	3	TMPRSS6	22	37470670	Missense_Mutation	SNP	C	TCGA-LN-A9FR-01A-11D-A387-09	16551877	37470670	13833896	163	34810											
ENTHD1	150350	genome.wustl.edu	37	chr22	40140045	40140045	+	Missense_Mutation	SNP	A	A	G	1	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	gaagaattcccagtagattgAggctatcattttcctctaca	12	13	7	9	0	2	3	1	1	1	2	4	4	4	3	2	1	1	2	2	1	5	7			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr22:40140045A>G	ENST00000325157.6	-	7	1713	c.1463T>C	c.(1462-1464)cTc>cCc	p.L488P		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	488										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CAGTAGATTGAGGCTATCATT	0.408																																																	0													65	68	67					22																	40140045		2203	4300	6503	SO:0001583	missense	0			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.1463T>C	22.37:g.40140045A>G	ENSP00000317431:p.Leu488Pro		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.L488P	ENST00000325157.6	37	c.1463	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	A	2.182	-0.387416	0.04932	.	.	ENSG00000176177	ENST00000325157	T	0.34472	1.36	5.75	3.58	0.41010	.	1.868410	0.02947	N	0.141278	T	0.37293	0.0998	L	0.51422	1.61	0.09310	N	1	B	0.18741	0.03	B	0.18871	0.023	T	0.23833	-1.0177	10	0.46703	T	0.11	-0.0399	7.8702	0.29561	0.8305:0.0:0.1695:0.0	.	488	Q8IYW4	ENTD1_HUMAN	P	488	ENSP00000317431:L488P	ENSP00000317431:L488P	L	-	2	0	ENTHD1	38469991	0.030000	0.19436	0.002000	0.10522	0.054000	0.15201	0.627000	0.24506	0.964000	0.38108	0.528000	0.53228	CTC	ENTHD1	-	NULL	ENSG00000176177		0.408	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	-	0	52	0	A	NM_152512		40140045	-1	tier1	-	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.001	G	G	40140045	A	G	40140045	3	3	135	1	0	0	0	0	1	0	0	0	5153	304	11	4	364	4	ENTHD1	22	40140045	Missense_Mutation	SNP	A	TCGA-LN-A9FR-01A-11D-A387-09	2669375	40140045	11164521	164	34811											
FAM9A	171482	genome.wustl.edu	37	chrX	8761714	8761714	+	Silent	SNP	A	A	C	1	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	cagacctttagtaattgctcAagtagcggcttcatctctct	9	14	7	11	1	4	1	2	0	2	1	5	1	4	1	1	1	2	4	1	1	4	6			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chrX:8761714A>C	ENST00000543214.1	-	8	1050	c.915T>G	c.(913-915)ctT>ctG	p.L305L	FAM9A_ENST00000381003.3_Silent_p.L305L	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	305						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				GTAATTGCTCAAGTAGCGGCT	0.378																																																	0													122	106	112					X																	8761714		2203	4300	6503	SO:0001819	synonymous_variant	0				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.915T>G	X.37:g.8761714A>C			B7ZLH5|Q2M2D1	Silent	SNP	NULL	p.L305	ENST00000543214.1	37	c.915	CCDS14131.1	X																																																																																			FAM9A	-	NULL	ENSG00000183304		0.378	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9A	HGNC	protein_coding	OTTHUMT00000055697.1	-	0	34	0	A	NM_174951		8761714	-1	tier1	-	no_errors	ENST00000381003	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.004	C	C	8761714	A	C	8761714	2	2	135	1	0	0	0	0	0	0	0	1	5681	117	5	4		4	FAM9A	23	8761714	Silent	SNP	A	TCGA-LN-A9FR-01A-11D-A387-09		8761714	146508846	165	34812											
PRPS2	5634	genome.wustl.edu	37	chrX	12837706	12837706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgaatgaagtggaccGgatggtcctggtgggcgacg	9	6	19	7	4	0	1	0	1	0	0	1	6	1	3	2	6	0	0	2	6	3	0			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chrX:12837706G>C	ENST00000380668.5	+	5	739	c.611G>C	c.(610-612)cGg>cCg	p.R204P	PRPS2_ENST00000398491.2_Missense_Mutation_p.R207P	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	204					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						GAAGTGGACCGGATGGTCCTG	0.527																																																	0													258	227	237					X																	12837706		2203	4300	6503	SO:0001583	missense	0			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.611G>C	X.37:g.12837706G>C	ENSP00000370043:p.Arg204Pro		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	p.R207P	ENST00000380668.5	37	c.620	CCDS14150.1	X	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525273	0.64747	.	.	ENSG00000101911	ENST00000380668;ENST00000398491	T;T	0.57907	0.37;0.37	4.86	4.86	0.63082	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	L	0.49778	1.585	0.80722	D	1	B;B	0.30763	0.204;0.294	B;B	0.32211	0.142;0.088	T	0.51395	-0.8711	10	0.41790	T	0.15	-11.9925	17.4192	0.87510	0.0:0.0:1.0:0.0	.	204;207	P11908;P11908-2	PRPS2_HUMAN;.	P	204;207	ENSP00000370043:R204P;ENSP00000381504:R207P	ENSP00000370043:R204P	R	+	2	0	PRPS2	12747627	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.273000	0.95719	2.125000	0.65367	0.513000	0.50165	CGG	PRPS2	-	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	ENSG00000101911		0.527	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	HGNC	protein_coding	OTTHUMT00000055772.2		0	22	0	G	NM_002765		12837706	1			no_errors	ENST00000398491	ensembl	human	known	74_37	missense	20.00	8	2	SNP	1.000	C	C	12837706	G	C	12837706	3	2	135	1	0	0	0	0	1	0	0	0	12622	1116	39	5	638	5	PRPS2	23	12837706	Missense_Mutation	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	4075992	12837706	142432854	166	34813											
FTSJ1	24140	genome.wustl.edu	37	chrX	48340858	48340858	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgacctgtggggacctGagctcctatgattcggaccg	6	12	13	10	2	0	3	0	3	0	0	2	5	1	5	4	3	1	1	4	3	1	3			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chrX:48340858G>T	ENST00000348411.2	+	10	1046	c.723G>T	c.(721-723)ctG>ctT	p.L241L	FTSJ1_ENST00000456787.1_Silent_p.L239L|FTSJ1_ENST00000396894.4_Silent_p.L104L|FTSJ1_ENST00000019019.2_Silent_p.L239L|FTSJ1_ENST00000496365.1_3'UTR	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GTGGGGACCTGAGCTCCTATG	0.572																																																	0													136	90	105					X																	48340858		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"tRNA methyltransferase 7 homolog (S. cerevisiae)"	300499	"mental retardation, X-linked 9", "mental retardation, X-linked 44"	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.723G>T	X.37:g.48340858G>T				Silent	SNP	pfam_rRNA_MeTrfase_FtsJ_dom	p.L241	ENST00000348411.2	37	c.723	CCDS14294.1	X																																																																																			FTSJ1	-	NULL	ENSG00000068438		0.572	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FTSJ1	HGNC	protein_coding	OTTHUMT00000060726.1	-	0	31	0	G			48340858	1	tier1	-	no_errors	ENST00000348411	ensembl	human	known	74_37	silent	25.00	9	3	SNP	1.000	T	T	48340858	G	T	48340858	2	4	135	1	0	0	0	0	0	0	0	1	6111	1277	45	3		3	FTSJ1	23	48340858	Silent	SNP	G	TCGA-LN-A9FR-01A-11D-A387-09	35503152	48340858	106929702	167	34814											
DOCK11	139818	genome.wustl.edu	37	chrX	117676956	117676956	+	Frame_Shift_Del	DEL	C	C	-																															agaagatgctgaaaagagggCccagagtttatttgttaaag																										TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chrX:117676956delC	ENST00000276202.7	+	3	350	c.287delC	c.(286-288)gccfs	p.A96fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.A96fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	96	Interaction with activated CDC42. {ECO:0000250}.				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						GAAAAGAGGGCCCAGAGTTTA	0.363																																																	0													81	75	77					X																	117676956		2202	4298	6500	SO:0001589	frameshift_variant	0			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.287delC	X.37:g.117676956delC	ENSP00000276202:p.Ala96fs		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q97fs	ENST00000276202.7	37	c.287	CCDS35373.1	X																																																																																			DOCK11	-	pfam_DOCK_C/D_N	ENSG00000147251		0.363	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1		0	62	0	C	NM_144658		117676956	1	tier1		no_errors	ENST00000276202	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	1.000	-	-	117676956	C	-	117676956	7	5	135	1	0	1	0	1	0	0	0	0	4700	739	26	0	297	0	DOCK11	23	117676956	Frame_Shift_Del	DEL	C	TCGA-LN-A9FR-01A-11D-A387-09	69336098	117676956	37593604	168	34815											
ZBTB17	7709	genome.wustl.edu	37	chr1	16269989	16269989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tgggtgaaggccttaccgcaCatcacacactggcatggctt	9	9	11	12	1	1	1	1	1	0	0	1	1	1	1	2	4	1	3	2	4	2	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:16269989C>T	ENST00000375743.4	-	12	1834	c.1602G>A	c.(1600-1602)atG>atA	p.M534I	ZBTB17_ENST00000537142.1_Missense_Mutation_p.M452I|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Missense_Mutation_p.M534I	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	534					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)		CCTTACCGCACATCACACACT	0.667																																																	0													95	103	100					1																	16269989		2203	4300	6503	SO:0001583	missense	0			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.1602G>A	1.37:g.16269989C>T	ENSP00000364895:p.Met534Ile		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M534I	ENST00000375743.4	37	c.1602	CCDS165.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.522|4.522	0.096945|0.096945	0.08681|0.08681	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000444358|ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729	.|T;T;T	.|0.03831	.|3.79;3.79;3.79	4.86|4.86	-0.0122|-0.0122	0.13989|0.13989	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.325592	.|0.31847	.|N	.|0.006974	T|T	0.01353|0.01353	0.0044|0.0044	N|N	0.00459|0.00459	-1.475|-1.475	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.51180|0.51180	-0.8738|-0.8738	5|10	.|0.66056	.|D	.|0.02	.|.	7.6669|7.6669	0.28437|0.28437	0.0:0.4286:0.3836:0.1878|0.0:0.4286:0.3836:0.1878	.|.	.|534;452;534	.|Q13105-2;F5H411;Q13105	.|.;.;ZBT17_HUMAN	Y|I	91|534;534;453;452;90	.|ENSP00000364895:M534I;ENSP00000364885:M534I;ENSP00000438529:M452I	.|ENSP00000364881:M90I	C|M	-|-	2|3	0|0	ZBTB17|ZBTB17	16142576|16142576	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.041000|0.041000	0.13682|0.13682	0.453000|0.453000	0.21811|0.21811	0.164000|0.164000	0.19529|0.19529	0.563000|0.563000	0.77884|0.77884	TGT|ATG	ZBTB17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000116809		0.667	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	-	0	46	0	C	NM_003443		16269989	-1	tier1	-	no_errors	ENST00000375733	ensembl	human	known	74_37	missense	25.81	46	16	SNP	0.970	T	T	16269989	C	T	16269989	3	4	136	1	0	0	0	0	1	0	0	0	17575	478	17	3	829	3	ZBTB17	1	16269989	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09		16269989	232980632	1	34816											
MYCL1	4610	genome.wustl.edu	37	chr1	40363231	40363231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacctggtccctcagcGccaagaatcgcgaacgcagg	9	5	13	14	4	1	1	1	0	0	1	3	2	2	1	3	3	2	2	3	3	3	0			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:40363231G>A	ENST00000372816.2	-	2	1355	c.908C>T	c.(907-909)gCg>gTg	p.A303V	RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000397332.2_Missense_Mutation_p.A333V			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	303	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTCCCTCAGCGCCAAGAATCG	0.572																																																	0													70	70	70					1																	40363231		2203	4300	6503	SO:0001583	missense	0				CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"Basic helix-loop-helix proteins"	7555	protein-coding gene	gene with protein product	"l-myc protein", "myc-related gene from lung cancer", "oncogene lmyc"	164850	"v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.908C>T	1.37:g.40363231G>A	ENSP00000361903:p.Ala303Val		A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Missense_Mutation	SNP	pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.A303V	ENST00000372816.2	37	c.908	CCDS30682.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101321	0.76983	.	.	ENSG00000116990	ENST00000397332;ENST00000372816	D;D	0.97959	-4.63;-4.63	5.75	5.75	0.90469	Helix-loop-helix DNA-binding (5);	0.110931	0.64402	D	0.000011	D	0.98422	0.9475	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99556	1.0967	10	0.72032	D	0.01	-29.8682	19.9598	0.97242	0.0:0.0:1.0:0.0	.	303	P12524	MYCL1_HUMAN	V	333;303	ENSP00000380494:A333V;ENSP00000361903:A303V	ENSP00000361903:A303V	A	-	2	0	MYCL1	40135818	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.876000	0.87215	2.716000	0.92895	0.655000	0.94253	GCG	MYCL	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	ENSG00000116990		0.572	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYCL	HGNC	protein_coding	OTTHUMT00000277004.1	-	0	40	0	G	NM_001033082		40363231	-1	tier1	-	no_errors	ENST00000372816	ensembl	human	known	74_37	missense	30.67	51	23	SNP	1.000	A	A	40363231	G	A	40363231	3	1	136	1	0	0	0	0	1	0	0	0	10058	1087	38	1	190	1	MYCL1	1	40363231	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	24093242	40363231	208887390	2	34817											
NEGR1	257194	genome.wustl.edu	37	chr1	72058523	72058523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagaggcaggctcgcattgGttgtgcctagcttgttggca	7	12	14	8	1	0	1	0	0	0	1	1	1	0	1	1	4	2	7	1	4	2	6			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:72058523G>T	ENST00000357731.5	-	6	1156	c.917C>A	c.(916-918)aCc>aAc	p.T306N	NEGR1_ENST00000306821.3_Missense_Mutation_p.T178N|NEGR1_ENST00000434200.1_Missense_Mutation_p.T260N	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	306	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCTCGCATTGGTTGTGCCTAG	0.463																																																	0													127	125	126					1																	72058523		2203	4300	6503	SO:0001583	missense	0			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.917C>A	1.37:g.72058523G>T	ENSP00000350364:p.Thr306Asn		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T306N	ENST00000357731.5	37	c.917	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113865	0.77210	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.66815	-0.23;-0.23;-0.23	6.03	6.03	0.97812	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.114787	0.64402	D	0.000015	T	0.59932	0.2230	L	0.38692	1.165	0.41537	D	0.988494	P;B	0.45212	0.853;0.431	P;P	0.49597	0.616;0.493	T	0.64706	-0.6344	10	0.72032	D	0.01	-11.5096	15.973	0.80034	0.0:0.1339:0.8661:0.0	.	260;306	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	N	306;178;260	ENSP00000350364:T306N;ENSP00000305938:T178N;ENSP00000413294:T260N	ENSP00000305938:T178N	T	-	2	0	NEGR1	71831111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.245000	0.72398	2.861000	0.98227	0.655000	0.94253	ACC	NEGR1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000172260		0.463	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4		0	76	0	G	NM_173808		72058523	-1			no_errors	ENST00000357731	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	72058523	G	T	72058523	3	4	136	1	0	0	0	0	1	0	0	0	10356	1261	44	3	155	3	NEGR1	1	72058523	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	31695292	72058523	177192098	3	34818											
DENND2C	163259	genome.wustl.edu	37	chr1	115167897	115167898	+	Frame_Shift_Ins	INS	-	-	T																															caagagttattttcacagtaINSttttttgtcacagtttcttt																										TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:115167897_115167898insT	ENST00000393274.1	-	4	1333_1334	c.708_709insA	c.(706-711)aaatacfs	p.Y237fs	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Frame_Shift_Ins_p.Y237fs|DENND2C_ENST00000393277.1_Frame_Shift_Ins_p.Y237fs	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	237					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)		TTTTCACAGTATTTTTTGTCAC	0.381																																																	0																																										SO:0001589	frameshift_variant	0				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.709dupA	1.37:g.115167903_115167903dupT	ENSP00000376955:p.Tyr237fs		B1AL26|Q5TCX6|Q6P3R3	Frame_Shift_Ins	INS	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.Y236fs	ENST00000393274.1	37	c.709_708	CCDS58018.1	1																																																																																			DENND2C	-	NULL	ENSG00000175984		0.381	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1		0	61	0	-	NM_198459		115167898	-1	tier1		no_errors	ENST00000393274	ensembl	human	known	74_37	frame_shift_ins	38.60	35	22	INS	0.959:0.957	T	T	115167898	-	T	115167897	7	5	136	1	0	1	1	0	0	0	0	0	4444	449	16	0	1974	0	DENND2C	1	115167897	Frame_Shift_Ins	INS	-	TCGA-M9-A5M8-01A-11D-A28B-09	43109374	115167897	134082724	4	34819											
HIST2H2BF	440686	genome.wustl.edu	37	chr1	149398941	149398941	+	IGR	SNP	C	C	A	0	0	0	1	1	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	gcttgttgtagtgcgccaggCgggacgcctctcccgcgatg	4	9	15	13	5	1	0	0	0	1	0	2	2	1	1	3	2	1	3	3	2	1	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:149398941C>A	ENST00000392948.2	-	0	412				HIST2H2BB_ENST00000609585.1_RNA|RP5-998N21.10_ENST00000609879.1_RNA|RP5-998N21.7_ENST00000444624.1_RNA					histone cluster 2, H3, pseudogene 2											lung(1)|ovary(1)	2						GTGCGCCAGGCGGGACGCCTC	0.657																																																	0													32	30	31					1																	149398941		688	1556	2244	SO:0001628	intergenic_variant	0			AL109948		1q21.1	2012-04-11	2006-10-11		ENSG00000203818	ENSG00000203818		"Histones / Replication-dependent"	32060	pseudogene	pseudogene			"histone 2, H3, pseudogene 2"				Standard	NG_012783		Approved	p06			OTTHUMG00000041033		1.37:g.149398941C>A				RNA	SNP	-	NULL	ENST00000392948.2	37	NULL		1																																																																																			HIST2H2BB	-	-	ENSG00000240929		0.657	HIST2H3PS2-001	PUTATIVE	basic|appris_principal	protein_coding	HIST2H2BB	HGNC	protein_coding	OTTHUMT00000098436.3	-	0	168	0	C	NG_012783		149398941	-1	tier1	-	no_errors	ENST00000609585	ensembl	human	known	74_37	rna	25.20	187	63	SNP	1.000	A	A	149398941	C	A	149398941	1	1	136	0	1	0	0	0	0	0	0	0	7207	768	27	2		2	HIST2H2BF	1	149398941	IGR	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	34231044	149398941	99851680	5	34820											
CD1E	913	genome.wustl.edu	37	chr1	158324285	158324285	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgagggctcaggatggctGggtgacctgcagactcatgg	8	8	17	8	0	2	3	2	2	0	1	2	4	2	4	1	5	1	3	1	5	0	0			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:158324285G>C	ENST00000368167.3	+	2	416	c.177G>C	c.(175-177)ctG>ctC	p.L59L	CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368160.3_Silent_p.L59L|CD1E_ENST00000434258.1_Silent_p.L57L|CD1E_ENST00000368163.3_Silent_p.L59L|CD1E_ENST00000368155.3_Silent_p.L59L|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368165.3_Silent_p.L59L|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Silent_p.L59L|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Silent_p.L59L|CD1E_ENST00000452291.2_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	59					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAGGATGGCTGGGTGACCTGC	0.562																																																	0													72	76	75					1																	158324285		2186	4299	6485	SO:0001819	synonymous_variant	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.177G>C	1.37:g.158324285G>C			B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L59	ENST00000368167.3	37	c.177	CCDS41417.1	1																																																																																			CD1E	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158488		0.562	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	-	0	70	0	G	NM_030893		158324285	1	tier1	-	no_errors	ENST00000368167	ensembl	human	known	74_37	silent	33.33	44	22	SNP	0.914	C	C	158324285	G	C	158324285	2	2	136	1	0	0	0	0	0	0	0	1	2985	1335	47	5		5	CD1E	1	158324285	Silent	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	8925344	158324285	90926336	6	34821											
UCK2	7371	genome.wustl.edu	37	chr1	165865444	165865444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaaggaggagacagttaCtgtctatcccgcagacgtgg	11	7	14	9	2	1	2	0	0	1	2	2	5	2	4	1	4	1	2	1	4	3	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:165865444C>T	ENST00000367879.4	+	4	677	c.374C>T	c.(373-375)aCt>aTt	p.T125I	UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000372212.4_Intron|RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000469256.2_5'UTR|UCK2_ENST00000470820.1_5'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	125					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GAGACAGTTACTGTCTATCCC	0.537																																																	0													207	192	197					1																	165865444		2203	4300	6503	SO:0001583	missense	0			AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"uridine monophosphate kinase"	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.374C>T	1.37:g.165865444C>T	ENSP00000356853:p.Thr125Ile		Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	pfam_PRK/URK,pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.T125I	ENST00000367879.4	37	c.374	CCDS1252.1	1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890287	0.33348	.	.	ENSG00000143179	ENST00000367879	.	.	.	5.29	4.38	0.52667	Phosphoribulokinase/uridine kinase (1);	0.097704	0.64402	D	0.000001	T	0.25082	0.0609	L	0.50919	1.6	0.50813	D	0.999899	B	0.14805	0.011	B	0.17979	0.02	T	0.08889	-1.0700	8	0.26408	T	0.33	-18.959	8.0262	0.30438	0.0:0.8178:0.0:0.1822	.	125	Q9BZX2	UCK2_HUMAN	I	125	.	ENSP00000356853:T125I	T	+	2	0	UCK2	164132068	0.977000	0.34250	0.016000	0.15963	0.967000	0.64934	2.497000	0.45354	1.238000	0.43771	0.655000	0.94253	ACT	UCK2	-	pfam_PRK/URK,pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Uridine_kinase	ENSG00000143179		0.537	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCK2	HGNC	protein_coding	OTTHUMT00000096753.1	-	0	47	0	C	NM_012474		165865444	1	tier1	-	no_errors	ENST00000367879	ensembl	human	known	74_37	missense	36.23	44	25	SNP	0.207	T	T	165865444	C	T	165865444	3	4	136	1	0	0	0	0	1	0	0	0	16973	565	20	3	388	3	UCK2	1	165865444	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	7541159	165865444	83385177	7	34822											
MYOC	4653	genome.wustl.edu	37	chr1	171605481	171605481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaatacgggaactgtcCgtggtagccagctccaggga	11	6	13	11	2	0	1	0	0	0	1	2	3	2	3	4	3	4	2	4	3	5	2	rs74315334		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:171605481C>T	ENST00000037502.6	-	3	1170	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	367	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		G -> R (in GLC1A). {ECO:0000269|PubMed:11774072, ECO:0000269|PubMed:12189160, ECO:0000269|PubMed:12442283, ECO:0000269|PubMed:12872267, ECO:0000269|PubMed:9345106, ECO:0000269|PubMed:9490287, ECO:0000269|PubMed:9521427}.		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)					GGGAACTGTCCGTGGTAGCCA	0.532																																																	0			GRCh37	CM971022	MYOC	M	rs74315334						85	81	82					1																	171605481		2203	4300	6503	SO:0001583	missense	0			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.1099G>A	1.37:g.171605481C>T	ENSP00000037502:p.Gly367Arg		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.G367R	ENST00000037502.6	37	c.1099	CCDS1297.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950684	0.73787	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	D	0.88975	-2.45	5.46	5.46	0.80206	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.92698	0.7679	L	0.57536	1.79	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93036	0.6453	9	0.87932	D	0	.	18.2451	0.89982	0.0:1.0:0.0:0.0	.	309;367	B4DV44;Q99972	.;MYOC_HUMAN	R	367;320;300	ENSP00000037502:G367R	ENSP00000037502:G367R	G	-	1	0	MYOC	169872104	0.989000	0.36119	0.396000	0.26296	0.233000	0.25261	3.977000	0.56874	2.719000	0.93026	0.555000	0.69702	GGA	MYOC	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000034971		0.532	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	-	0	75	0	C	NM_000261		171605481	-1	tier1	rs74315334	no_errors	ENST00000037502	ensembl	human	known	74_37	missense	30.00	70	30	SNP	1.000	T	T	171605481	C	T	171605481	3	4	136	1	0	0	0	0	1	0	0	0	10124	661	23	1	419	1	MYOC	1	171605481	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	5740037	171605481	77645140	8	34823											
SLC9A11	284525	genome.wustl.edu	37	chr1	173486717	173486717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacggtatattcaatttcacGcttaagcagacagcttagct	12	12	8	9	2	2	1	2	0	0	1	2	2	2	1	0	1	3	5	0	1	5	6			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:173486717G>A	ENST00000367714.3	-	23	3288	c.2866C>T	c.(2866-2868)Cgt>Tgt	p.R956C	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	956					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCAATTTCACGCTTAAGCAGA	0.358																																																	0													123	126	125					1																	173486717		2203	4300	6503	SO:0001583	missense	0			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.2866C>T	1.37:g.173486717G>A	ENSP00000356687:p.Arg956Cys		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R956C	ENST00000367714.3	37	c.2866	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	G	3.793	-0.043306	0.07452	.	.	ENSG00000162753	ENST00000367714	D	0.92858	-3.12	5.01	-0.745	0.11098	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.604283	0.14279	N	0.329622	T	0.76800	0.4038	L	0.48362	1.52	0.09310	N	1	B	0.16802	0.019	B	0.17433	0.018	T	0.68534	-0.5383	10	0.62326	D	0.03	-0.7432	4.2154	0.10531	0.1676:0.1251:0.5799:0.1274	.	956	Q5TAH2	S9A11_HUMAN	C	956	ENSP00000356687:R956C	ENSP00000356687:R956C	R	-	1	0	SLC9A11	171753340	0.586000	0.26782	0.036000	0.18154	0.084000	0.17831	0.506000	0.22658	-0.020000	0.14032	-0.940000	0.02684	CGT	SLC9C2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000162753		0.358	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	-	0	35	0	G	NM_178527		173486717	-1	tier1	-	no_errors	ENST00000367714	ensembl	human	known	74_37	missense	39.47	23	15	SNP	0.012	A	A	173486717	G	A	173486717	3	1	136	1	0	0	0	0	1	0	0	0	14756	1087	38	1	532	1	SLC9A11	1	173486717	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	1881236	173486717	75763904	9	34824											
HMCN1	83872	genome.wustl.edu	37	chr1	185962324	185962324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttagacacacattcCtcccttctggttcaatgaag	9	16	5	11	0	3	2	1	1	2	1	5	2	5	2	2	1	0	1	2	1	3	6			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:185962324C>A	ENST00000271588.4	+	23	3617	c.3388C>A	c.(3388-3390)Ctc>Atc	p.L1130I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L1130I|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1130	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACACATTCCTCCCTTCTGG	0.403																																																	0													150	144	146					1																	185962324		2203	4300	6503	SO:0001583	missense	0			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.3388C>A	1.37:g.185962324C>A	ENSP00000271588:p.Leu1130Ile		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.L1130I	ENST00000271588.4	37	c.3388	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084586	0.76642	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67523	-0.27;-0.27	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057166	0.64402	D	0.000001	T	0.77184	0.4093	L	0.58925	1.835	0.51767	D	0.999935	D;D	0.89917	0.988;1.0	P;D	0.85130	0.904;0.997	T	0.72246	-0.4349	10	0.25106	T	0.35	.	13.5822	0.61909	0.0:0.9293:0.0:0.0707	.	514;1130	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	I	1130	ENSP00000271588:L1130I;ENSP00000356462:L1130I	ENSP00000271588:L1130I	L	+	1	0	HMCN1	184228947	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	4.398000	0.59697	2.826000	0.97356	0.655000	0.94253	CTC	HMCN1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	36	0	C	NM_031935		185962324	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	19.61	41	10	SNP	1.000	A	A	185962324	C	A	185962324	3	1	136	1	0	0	0	0	1	0	0	0	7247	681	24	3	3478	3	HMCN1	1	185962324	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	12475607	185962324	63288297	10	34825											
PRG4	10216	genome.wustl.edu	37	chr1	186276143	186276145	+	In_Frame_Del	DEL	CTC	CTC	-																															caccaagtctgcacccaccaCtcccaaggagcctgcaccca																										TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:186276143_186276145delCTC	ENST00000445192.2	+	7	1337_1339	c.1292_1294delCTC	c.(1291-1296)actccc>acc	p.P432del	PRG4_ENST00000367483.4_In_Frame_Del_p.P391del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.P389del|PRG4_ENST00000367485.4_In_Frame_Del_p.P339del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	432	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						GCACCCACCACTCCCAAGGAGCC	0.655																																																	0																																										SO:0001651	inframe_deletion	0			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.1292_1294delCTC	1.37:g.186276143_186276145delCTC	ENSP00000399679:p.Pro432del		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.P432in_frame_del	ENST00000445192.2	37	c.1292_1294	CCDS1369.1	1																																																																																			PRG4	-	NULL	ENSG00000116690		0.655	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1		0	66	0	CTC	NM_005807		186276145	1			no_errors	ENST00000445192	ensembl	human	known	74_37	in_frame_del	6.25	105	7	DEL	0.002:0.000:0.000	0	-	186276145	CTC	-	186276143	7	5	136	1	0	1	0	1	0	0	0	0	12523	565	20	0	1314	0	PRG4	1	186276143	In_Frame_Del	DEL	CTC	TCGA-M9-A5M8-01A-11D-A28B-09	313819	186276143	62974478	11	34826											
NID1	4811	genome.wustl.edu	37	chr1	236176855	236176855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gttgatggggcgctggtccaCgacagcttcagaacaaaagg	11	7	14	9	2	1	2	1	1	0	1	2	3	2	2	1	4	2	3	1	4	3	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:236176855C>T	ENST00000264187.6	-	11	2342	c.2260G>A	c.(2260-2262)Gtg>Atg	p.V754M	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	754					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CGCTGGTCCACGACAGCTTCA	0.547																																																	0													92	83	86					1																	236176855		2203	4300	6503	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2260G>A	1.37:g.236176855C>T	ENSP00000264187:p.Val754Met		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.V754M	ENST00000264187.6	37	c.2260	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863743	0.51482	.	.	ENSG00000116962	ENST00000264187	D	0.83837	-1.77	5.93	0.195	0.15151	.	0.775582	0.12191	N	0.491196	T	0.68796	0.3040	N	0.14661	0.345	0.09310	N	1	B	0.22146	0.065	B	0.06405	0.002	T	0.57516	-0.7798	10	0.54805	T	0.06	.	12.2376	0.54524	0.0:0.6661:0.0:0.3339	.	754	P14543	NID1_HUMAN	M	754	ENSP00000264187:V754M	ENSP00000264187:V754M	V	-	1	0	NID1	234243478	0.000000	0.05858	0.003000	0.11579	0.858000	0.48976	0.179000	0.16840	0.114000	0.18032	-0.136000	0.14681	GTG	NID1	-	NULL	ENSG00000116962		0.547	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	-	0	38	0	C	NM_002508		236176855	-1	tier1	-	no_errors	ENST00000264187	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.001	T	T	236176855	C	T	236176855	3	4	136	1	0	0	0	0	1	0	0	0	10453	536	19	1	1523	1	NID1	1	236176855	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	49900712	236176855	13073766	12	34827											
KIF26B	55083	genome.wustl.edu	37	chr1	245849060	245849060	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgcctgaagtgcaacacGtttgccgagctgcaggagag	10	7	14	10	2	0	2	0	1	0	1	0	5	0	2	2	1	6	4	2	1	2	1	rs368334439		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:245849060G>A	ENST00000407071.2	+	12	3215	c.2775G>A	c.(2773-2775)acG>acA	p.T925T	KIF26B_ENST00000366518.4_Silent_p.T544T	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	925					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)			AGTGCAACACGTTTGCCGAGC	0.642																																																	0								G		0,3914		0,0,1957	18	21	20		2775	-4.6	0.1	1		20	1,8275		0,1,4137	no	coding-synonymous	KIF26B	NM_018012.3		0,1,6094	AA,AG,GG		0.0121,0.0,0.0082		925/2109	245849060	1,12189	1957	4138	6095	SO:0001819	synonymous_variant	0			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.2775G>A	1.37:g.245849060G>A			Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T925	ENST00000407071.2	37	c.2775	CCDS44342.1	1																																																																																			KIF26B	-	NULL	ENSG00000162849		0.642	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0	22	0	G	XM_371354		245849060	1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	silent	19.05	34	8	SNP	0.451	A	A	245849060	G	A	245849060	2	1	136	1	0	0	0	0	0	0	0	1	8322	1132	40	1		1	KIF26B	1	245849060	Silent	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	9672205	245849060	3401561	13	34828											
ZNF695	57116	genome.wustl.edu	37	chr1	247151190	247151190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttacattggtacgggttCtctccaatatggattctctg	7	18	8	8	1	2	0	0	0	2	0	5	1	3	1	1	3	2	2	1	3	4	8			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:247151190C>A	ENST00000339986.7	-	4	774	c.627G>T	c.(625-627)gaG>gaT	p.E209D	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	209					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)			GGTACGGGTTCTCTCCAATAT	0.378																																																	0													80	81	81					1																	247151190		1978	4163	6141	SO:0001583	missense	0				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.627G>T	1.37:g.247151190C>A	ENSP00000341236:p.Glu209Asp		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E209D	ENST00000339986.7	37	c.627	CCDS44344.1	1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464174	0.26335	.	.	ENSG00000197472	ENST00000339986	T	0.26810	1.71	0.479	0.479	0.16796	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36468	0.0968	M	0.74467	2.265	0.27811	N	0.942127	D	0.65815	0.995	P	0.53360	0.724	T	0.20571	-1.0271	9	0.52906	T	0.07	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	209	Q8IW36	ZN695_HUMAN	D	209	ENSP00000341236:E209D	ENSP00000341236:E209D	E	-	3	2	ZNF695	245217813	0.860000	0.29831	0.385000	0.26158	0.183000	0.23260	0.125000	0.15749	0.507000	0.28148	0.195000	0.17529	GAG	ZNF695	-	pfscan_Znf_C2H2	ENSG00000197472		0.378	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5	-	0	35	0	C	NM_020394		247151190	-1	tier1	-	no_errors	ENST00000339986	ensembl	human	known	74_37	missense	29.41	36	15	SNP	1.000	A	A	247151190	C	A	247151190	3	1	136	1	0	0	0	0	1	0	0	0	18146	912	32	3	924	3	ZNF695	1	247151190	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	1302130	247151190	2099431	14	34829											
GREB1	9687	genome.wustl.edu	37	chr2	11774344	11774344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacatcatgcactacgccctGctgggcctgcggaagtggtc	7	8	13	13	2	1	0	1	0	0	0	2	2	1	1	2	3	4	2	2	3	2	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:11774344G>A	ENST00000381486.2	+	29	5379	c.5079G>A	c.(5077-5079)ctG>ctA	p.L1693L	GREB1_ENST00000234142.5_Silent_p.L1693L|GREB1_ENST00000396123.1_Silent_p.L691L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1693						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)		ACTACGCCCTGCTGGGCCTGC	0.612																																					Ovarian(39;850 945 2785 23371 33093)												0													74	81	79					2																	11774344		2135	4241	6376	SO:0001819	synonymous_variant	0				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.5079G>A	2.37:g.11774344G>A			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	superfamily_P-loop_NTPase	p.L1693	ENST00000381486.2	37	c.5079	CCDS42655.1	2																																																																																			GREB1	-	NULL	ENSG00000196208		0.612	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0	47	0	G	NM_014668		11774344	1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	silent	20.45	35	9	SNP	0.131	A	A	11774344	G	A	11774344	2	1	136	1	0	0	0	0	0	0	0	1	6787	1306	46	3		3	GREB1	2	11774344	Silent	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09		11774344	231425029	15	34830											
C2orf39	92749	genome.wustl.edu	37	chr2	26654871	26654871	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaagctggagcaggatgtGcaggtgcaacagctggtcct	10	8	14	9	0	1	0	1	0	0	0	2	2	2	2	1	4	6	5	1	4	2	0			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:26654871G>A	ENST00000288710.2	+	7	959	c.885G>A	c.(883-885)gtG>gtA	p.V295V	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	295					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											AGCAGGATGTGCAGGTGCAAC	0.483																																																	0													100	82	88					2																	26654871		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.885G>A	2.37:g.26654871G>A			A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	NULL	p.V295	ENST00000288710.2	37	c.885	CCDS1723.1	2																																																																																			DRC1	-	NULL	ENSG00000157856		0.483	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRC1	HGNC	protein_coding	OTTHUMT00000246862.1	-	0	30	0	G	NM_145038		26654871	1	tier1	-	no_errors	ENST00000288710	ensembl	human	known	74_37	silent	27.27	24	9	SNP	0.999	A	A	26654871	G	A	26654871	2	1	136	1	0	0	0	0	0	0	0	1	2171	1306	46	3		3	C2orf39	2	26654871	Silent	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	14880527	26654871	216544502	16	34831											
VIT	5212	genome.wustl.edu	37	chr2	36986238	36986238	+	Intron	SNP	C	C	T	0	0	0	1	1	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	accttctgagtccatgaacaCgcgacgtgttttgggagata	10	11	11	9	3	1	3	0	2	1	1	2	5	2	3	2	1	1	1	2	1	2	4	rs61745550		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:36986238C>T	ENST00000389975.3	+	6	789				VIT_ENST00000497382.1_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000379241.3_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000401530.1_Intron|VIT_ENST00000457137.2_Missense_Mutation_p.T179M	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCCATGAACACGCGACGTGTT	0.473																																																	0								C	,,,MET/THR,	0,4406		0,0,2203	81	79	80		,,,536,	-9	0	2	dbSNP_129	80	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,missense,intron	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_001177972.1,NM_053276.3	,,,81,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	,,,179/204,	36986238	1,13005	2203	4300	6503	SO:0001627	intron_variant	0			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.487+49C>T	2.37:g.36986238C>T			A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	p.T179M	ENST00000389975.3	37	c.536	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	C	0.694	-0.793228	0.02862	0.0	1.16E-4	ENSG00000205221	ENST00000457137	D	0.90955	-2.76	4.76	-8.99	0.00751	.	.	.	.	.	T	0.75191	0.3816	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.61028	-0.7145	7	.	.	.	.	2.598	0.04859	0.1019:0.172:0.3305:0.3957	rs61745550	179	Q6UXI7-3	.	M	179	ENSP00000393561:T179M	.	T	+	2	0	VIT	36839742	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.208000	0.00557	-1.426000	0.01994	-0.519000	0.04390	ACG	VIT	-	NULL	ENSG00000205221		0.473	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		-	0	27	0	C			36986238	1	tier1	rs61745550	no_errors	ENST00000457137	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.000	T	T	36986238	C	T	36986238	1	4	136	0	1	0	0	0	0	0	0	0	17220	536	19	1		1	VIT	2	36986238	Intron	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	10331367	36986238	206213135	17	34832											
CNTNAP5	129684	genome.wustl.edu	37	chr2	124783303	124783303	+	Missense_Mutation	SNP	A	A	T	1	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	ggcatttaggattaacagcgAcaaactgtgagtacgaggag	14	8	13	6	2	0	1	0	1	0	0	0	5	0	3	0	3	4	2	0	3	4	4			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:124783303A>T	ENST00000431078.1	+	1	440	c.76A>T	c.(76-78)Aca>Tca	p.T26S	AC079154.1_ENST00000438816.1_RNA|CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	26					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)		ATTAACAGCGACAAACTGTGA	0.512																																																	0													88	91	90					2																	124783303		1988	4156	6144	SO:0001583	missense	0			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.76A>T	2.37:g.124783303A>T	ENSP00000399013:p.Thr26Ser		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T26S	ENST00000431078.1	37	c.76	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	A	9.540	1.113169	0.20795	.	.	ENSG00000155052	ENST00000431078	D	0.87334	-2.24	5.43	3.01	0.34805	.	0.000000	0.49916	D	0.000127	T	0.74245	0.3691	L	0.27053	0.805	0.32224	N	0.574795	B	0.14805	0.011	B	0.10450	0.005	T	0.63287	-0.6671	10	0.14656	T	0.56	.	5.5208	0.16931	0.765:0.0:0.0831:0.1519	.	26	Q8WYK1	CNTP5_HUMAN	S	26	ENSP00000399013:T26S	ENSP00000399013:T26S	T	+	1	0	CNTNAP5	124499773	0.981000	0.34729	1.000000	0.80357	0.956000	0.61745	1.429000	0.34903	0.343000	0.23821	0.459000	0.35465	ACA	CNTNAP5	-	NULL	ENSG00000155052		0.512	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	64	0	A			124783303	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	29.23	45	19	SNP	1.000	T	T	124783303	A	T	124783303	3	4	136	1	0	0	0	0	1	0	0	0	3657	275	10	5	78	5	CNTNAP5	2	124783303	Missense_Mutation	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09	87797065	124783303	118416070	18	34833											
LRP1B	53353	genome.wustl.edu	37	chr2	141571273	141571273	+	Missense_Mutation	SNP	T	T	G	0	1	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	ttaattcttctttcattgacTcgattacttctaaattacca	11	19	2	9	1	4	1	1	1	3	0	5	2	4	1	1	0	2	0	1	0	5	9			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:141571273T>G	ENST00000389484.3	-	32	6283	c.5312A>C	c.(5311-5313)gAg>gCg	p.E1771A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1771					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)		TTTCATTGACTCGATTACTTC	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													177	154	162					2																	141571273		2203	4300	6503	SO:0001583	missense	0			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.5312A>C	2.37:g.141571273T>G	ENSP00000374135:p.Glu1771Ala		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E1771A	ENST00000389484.3	37	c.5312	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648155	0.47258	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90504	-2.68	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.066255	0.64402	D	0.000015	D	0.83936	0.5362	L	0.27053	0.805	0.58432	D	0.999998	P	0.45348	0.856	B	0.41510	0.359	T	0.82762	-0.0297	10	0.07030	T	0.85	.	16.1982	0.82046	0.0:0.0:0.0:1.0	.	1771	Q9NZR2	LRP1B_HUMAN	A	1771;1709	ENSP00000374135:E1771A	ENSP00000374135:E1771A	E	-	2	0	LRP1B	141287743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.242000	0.72376	2.226000	0.72624	0.533000	0.62120	GAG	LRP1B	-	smart_LDLR_classB_rpt	ENSG00000168702		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	53	0	T	NM_018557		141571273	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	27.08	70	26	SNP	1.000	G	G	141571273	T	G	141571273	3	3	136	1	0	0	0	0	1	0	0	0	8990	1551	54	4	8727	4	LRP1B	2	141571273	Missense_Mutation	SNP	T	TCGA-M9-A5M8-01A-11D-A28B-09	16787970	141571273	101628100	19	34834											
ARHGAP15	55843	genome.wustl.edu	37	chr2	143913112	143913112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacactgaattctacccGccaaggcacaggagctgtgc	12	6	11	12	1	1	1	0	1	1	0	1	3	1	3	2	3	4	2	2	3	4	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:143913112G>A	ENST00000295095.6	+	2	220	c.53G>A	c.(52-54)cGc>cAc	p.R18H	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.R18H	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	18					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)		AATTCTACCCGCCAAGGCACA	0.398																																																	0													77	68	71					2																	143913112		2203	4300	6503	SO:0001583	missense	0			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.53G>A	2.37:g.143913112G>A	ENSP00000295095:p.Arg18His		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R18H	ENST00000295095.6	37	c.53	CCDS2184.1	2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890368	0.33348	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.07567	3.18	5.96	3.74	0.42951	.	0.515556	0.21547	N	0.072797	T	0.02848	0.0085	N	0.03608	-0.345	0.22412	N	0.999122	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42447	-0.9451	10	0.17832	T	0.49	.	2.9511	0.05862	0.5189:0.25:0.2311:0.0	.	18;18	B4E0R3;Q53QZ3	.;RHG15_HUMAN	H	18	ENSP00000295095:R18H	ENSP00000295095:R18H	R	+	2	0	ARHGAP15	143629582	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.445000	0.44899	1.317000	0.45149	0.655000	0.94253	CGC	ARHGAP15	-	NULL	ENSG00000075884		0.398	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP15	HGNC	protein_coding	OTTHUMT00000254793.2	-	0	13	0	G	NM_018460		143913112	1	tier1	-	no_errors	ENST00000295095	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	A	A	143913112	G	A	143913112	3	1	136	1	0	0	0	0	1	0	0	0	866	1087	38	1	55	1	ARHGAP15	2	143913112	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	2341839	143913112	99286261	20	34835											
TTN	7273	genome.wustl.edu	37	chr2	179611821	179611821	+	Intron	SNP	A	A	G	1	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	ggtgtggaatatcgctctagAgtctctcctgggggtgtgga	6	12	16	7	1	2	1	0	0	2	1	5	3	3	3	1	5	0	1	1	5	3	2	rs397517814		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:179611821A>G	ENST00000591111.1	-	46	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Silent_p.T5102T			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)			ATCGCTCTAGAGTCTCTCCTG	0.502																																																	0													65	75	72					2																	179611821		2203	4299	6502	SO:0001627	intron_variant	0			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.10361-5173T>C	2.37:g.179611821A>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	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T5102	ENST00000591111.1	37	c.15306		2																																																																																			TTN	-	NULL	ENSG00000155657		0.502	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	81	0	A	NM_133378		179611821	-1	tier1	-	no_errors	ENST00000360870	ensembl	human	known	74_37	silent	28.93	86	35	SNP	0.000	G	G	179611821	A	G	179611821	1	3	136	0	1	0	0	0	0	0	0	0	16784	291	11	4		4	TTN	2	179611821	Intron	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09	35698709	179611821	63587552	21	34836											
PMS1	5378	genome.wustl.edu	37	chr2	190660583	190660583	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaatggcaatgaagtactAcacctcaaaaataaatagtc	18	10	6	7	0	1	1	1	1	0	0	2	1	1	1	1	1	2	3	1	1	10	5			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:190660583A>G	ENST00000441310.2	+	3	454	c.221A>G	c.(220-222)tAc>tGc	p.Y74C	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409985.1_Missense_Mutation_p.Y74C|PMS1_ENST00000374826.4_Missense_Mutation_p.Y74C|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000447232.2_Missense_Mutation_p.Y74C|PMS1_ENST00000409823.3_Missense_Mutation_p.Y74C|PMS1_ENST00000418224.3_5'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	74					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)			ATGAAGTACTACACCTCAAAA	0.393			"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													105	103	104					2																	190660583		2203	4300	6503	SO:0001583	missense	0				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.221A>G	2.37:g.190660583A>G	ENSP00000406490:p.Tyr74Cys		D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N	p.Y74C	ENST00000441310.2	37	c.221	CCDS2302.1	2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147545	0.77888	.	.	ENSG00000064933	ENST00000441310;ENST00000409985;ENST00000409823;ENST00000374826;ENST00000424766;ENST00000447232	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.78	5.78	0.91487	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.104042	0.64402	N	0.000002	D	0.85062	0.5611	M	0.67517	2.055	0.80722	D	1	D;D;D;D;P;D;D	0.89917	0.995;1.0;1.0;1.0;0.943;0.967;0.986	D;D;D;D;P;P;P	0.85130	0.968;0.995;0.995;0.997;0.854;0.897;0.897	D	0.86189	0.1611	10	0.62326	D	0.03	-9.6807	16.1121	0.81271	1.0:0.0:0.0:0.0	.	74;74;74;74;74;74;74	B4DMF4;E9PC40;Q5FBZ4;Q5FBZ9;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	C	74	ENSP00000406490:Y74C;ENSP00000386623:Y74C;ENSP00000387125:Y74C;ENSP00000363959:Y74C;ENSP00000410082:Y74C;ENSP00000401064:Y74C	ENSP00000343888:Y74C	Y	+	2	0	PMS1	190368828	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	7.171000	0.77595	2.213000	0.71641	0.519000	0.50382	TAC	PMS1	-	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N	ENSG00000064933		0.393	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2	-	0	31	0	A			190660583	1	tier1	-	no_errors	ENST00000441310	ensembl	human	known	74_37	missense	23.17	63	19	SNP	0.998	G	G	190660583	A	G	190660583	3	3	136	1	0	0	0	0	1	0	0	0	12181	391	14	4	227	4	PMS1	2	190660583	Missense_Mutation	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09	11048762	190660583	52538790	22	34837											
PLCL1	5334	genome.wustl.edu	37	chr2	198950163	198950163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taataagaagttcttatcaaGaatctatccaagtgccatga	16	12	6	7	0	3	3	1	1	2	2	4	3	4	3	2	0	1	1	2	0	8	5			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:198950163G>C	ENST00000428675.1	+	2	2320	c.1922G>C	c.(1921-1923)aGa>aCa	p.R641T	PLCL1_ENST00000437704.2_Missense_Mutation_p.R543T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	641	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTCTTATCAAGAATCTATCCA	0.388																																																	0													37	40	39					2																	198950163		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1922G>C	2.37:g.198950163G>C	ENSP00000402861:p.Arg641Thr		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R641T	ENST00000428675.1	37	c.1922	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	G	17.84	3.486964	0.63962	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	D;D	0.83163	-1.69;-1.69	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.076869	0.56097	D	0.000035	D	0.95149	0.8428	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96693	0.9512	9	.	.	.	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	641;567	Q15111;B4DYZ4	PLCL1_HUMAN;.	T	641;543	ENSP00000402861:R641T;ENSP00000414138:R543T	.	R	+	2	0	PLCL1	198658408	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.643000	0.98464	2.793000	0.96121	0.561000	0.74099	AGA	PLCL1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	ENSG00000115896		0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1		0	17	0	G	NM_006226		198950163	1			no_errors	ENST00000428675	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.998	C	C	198950163	G	C	198950163	3	2	136	1	0	0	0	0	1	0	0	0	12078	942	33	5	1928	5	PLCL1	2	198950163	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	8289580	198950163	44249210	23	34838											
ROBO1	6091	genome.wustl.edu	37	chr3	78688924	78688924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaggtagtgaggttgctgtCgctgtttccattgcctgccg	4	14	14	9	2	0	1	0	1	0	0	2	1	1	1	3	2	3	6	3	2	2	5	rs552122795		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:78688924C>T	ENST00000464233.1	-	22	3120	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N	ROBO1_ENST00000436010.2_Missense_Mutation_p.D964N|ROBO1_ENST00000495273.1_Missense_Mutation_p.D958N|ROBO1_ENST00000467549.1_Missense_Mutation_p.D958N	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1003					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)		AGGTTGCTGTCGCTGTTTCCA	0.522													C|||	1	0.000199681	0	0	5008	,	,		14292	0.001		0	False		,,,				2504	0																0													98	100	99					3																	78688924		2018	4187	6205	SO:0001583	missense	0			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.3007G>A	3.37:g.78688924C>T	ENSP00000420321:p.Asp1003Asn		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D1003N	ENST00000464233.1	37	c.3007	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744427	0.69418	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.64085	-0.05;-0.08;0.1;0.16	5.78	4.91	0.64330	.	0.088242	0.85682	D	0.000000	T	0.75903	0.3913	L	0.61387	1.9	0.53005	D	0.999966	P;P;D;P;P	0.89917	0.935;0.791;1.0;0.937;0.879	B;B;D;B;B	0.87578	0.361;0.079;0.998;0.169;0.248	T	0.76077	-0.3091	9	.	.	.	.	14.7037	0.69174	0.0:0.9303:0.0:0.0697	.	967;1003;958;958;964	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	N	964;958;1003;958;958;1007	ENSP00000406043:D964N;ENSP00000420321:D1003N;ENSP00000420637:D958N;ENSP00000417992:D958N	.	D	-	1	0	ROBO1	78771614	1.000000	0.71417	0.684000	0.30055	0.362000	0.29581	5.780000	0.68956	1.437000	0.47472	0.591000	0.81541	GAC	ROBO1	-	NULL	ENSG00000169855		0.522	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0	86	0	C	NM_002941		78688924	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	missense	56.70	42	55	SNP	1.000	T	T	78688924	C	T	78688924	3	4	136	1	0	0	0	0	1	0	0	0	13558	884	31	1	1988	1	ROBO1	3	78688924	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09		78688924	119333506	24	34839											
IMPG2	50939	genome.wustl.edu	37	chr3	100963578	100963578	+	Missense_Mutation	SNP	A	A	G	1	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	aggttgagtgaatgaacttgAaggcaatgaatcaatagaaa	18	9	11	3	0	1	6	1	5	0	1	1	6	1	6	0	2	1	2	0	2	8	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:100963578A>G	ENST00000193391.7	-	13	1784	c.1597T>C	c.(1597-1599)Tca>Cca	p.S533P		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	533					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)	AATGAACTTGAAGGCAATGAA	0.353																																																	0													87	80	82					3																	100963578		2203	4300	6503	SO:0001583	missense	0			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.1597T>C	3.37:g.100963578A>G	ENSP00000193391:p.Ser533Pro		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S533P	ENST00000193391.7	37	c.1597	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546379	0.65198	.	.	ENSG00000081148	ENST00000193391	T	0.28895	1.59	5.66	5.66	0.87406	.	0.221927	0.31909	N	0.006873	T	0.44244	0.1284	L	0.34521	1.04	0.37176	D	0.903286	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.51442	-0.8705	10	0.59425	D	0.04	-9.0676	14.4518	0.67389	1.0:0.0:0.0:0.0	.	533;533	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	P	533	ENSP00000193391:S533P	ENSP00000193391:S533P	S	-	1	0	IMPG2	102446268	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.460000	0.66691	2.151000	0.67156	0.533000	0.62120	TCA	IMPG2	-	NULL	ENSG00000081148		0.353	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	-	0	38	0	A			100963578	-1	tier1	-	no_errors	ENST00000193391	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	G	G	100963578	A	G	100963578	3	3	136	1	0	0	0	0	1	0	0	0	7756	246	9	4	2156	4	IMPG2	3	100963578	Missense_Mutation	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09	22274654	100963578	97058852	25	34840											
CCDC14	64770	genome.wustl.edu	37	chr3	123634512	123634512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattcccaggcttgcagcgaGcactgtccacactaagatcg	10	9	9	13	2	0	1	0	0	0	1	3	2	2	1	2	1	3	3	2	1	2	4			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:123634512G>A	ENST00000488653.2	-	13	2066	c.1976C>T	c.(1975-1977)gCt>gTt	p.A659V	CCDC14_ENST00000485727.1_Missense_Mutation_p.A459V|CCDC14_ENST00000310351.4_Missense_Mutation_p.A499V|CCDC14_ENST00000433542.2_Missense_Mutation_p.A618V|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.A459V			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	659					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)		CTTGCAGCGAGCACTGTCCAC	0.408																																																	0													104	110	108					3																	123634512		2203	4300	6503	SO:0001583	missense	0			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.1976C>T	3.37:g.123634512G>A	ENSP00000420180:p.Ala659Val		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.A659V	ENST00000488653.2	37	c.1976		3	.	.	.	.	.	.	.	.	.	.	G	3.032	-0.199396	0.06219	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.32	3.54	0.40534	.	0.597918	0.17726	N	0.164045	T	0.30916	0.0780	L	0.42245	1.32	0.09310	N	1	B;B;B	0.14805	0.011;0.011;0.011	B;B;B	0.17722	0.019;0.019;0.009	T	0.18650	-1.0330	10	0.27785	T	0.31	.	5.6887	0.17817	0.2438:0.1444:0.6118:0.0	.	659;618;500	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	V	659;499;459;459;618;640	ENSP00000420180:A659V;ENSP00000312031:A499V;ENSP00000418002:A459V;ENSP00000418403:A459V;ENSP00000395706:A618V;ENSP00000386866:A640V	ENSP00000312031:A499V	A	-	2	0	CCDC14	125117202	0.003000	0.15002	0.083000	0.20561	0.353000	0.29299	0.869000	0.27996	0.822000	0.34565	-0.136000	0.14681	GCT	CCDC14	-	NULL	ENSG00000175455		0.408	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		-	0	44	0	G	NM_022757		123634512	-1	tier1	-	no_errors	ENST00000488653	ensembl	human	known	74_37	missense	38.10	39	24	SNP	0.000	A	A	123634512	G	A	123634512	3	1	136	1	0	0	0	0	1	0	0	0	2780	971	34	3	889	3	CCDC14	3	123634512	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	22670934	123634512	74387918	26	34841											
C3orf22	152065	genome.wustl.edu	37	chr3	126268845	126268845	+	Missense_Mutation	SNP	A	A	G	1	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	cttgagttcccaaaggttgcAcagtggaggtggtgatggtg	8	11	16	6	0	0	2	0	2	0	0	1	3	1	3	1	5	1	3	1	5	1	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:126268845A>G	ENST00000318225.2	-	4	670	c.292T>C	c.(292-294)Tgc>Cgc	p.C98R		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	98										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CAAAGGTTGCACAGTGGAGGT	0.617																																																	0													156	128	138					3																	126268845		2203	4300	6503	SO:0001583	missense	0				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.292T>C	3.37:g.126268845A>G	ENSP00000316644:p.Cys98Arg		B3KUS9	Missense_Mutation	SNP	NULL	p.C98R	ENST00000318225.2	37	c.292	CCDS3040.1	3	.	.	.	.	.	.	.	.	.	.	A	5.944	0.358188	0.11239	.	.	ENSG00000180697	ENST00000318225	.	.	.	2.71	0.244	0.15507	.	0.392891	0.18748	N	0.132277	T	0.16171	0.0389	N	0.17082	0.46	0.19945	N	0.999948	B	0.14805	0.011	B	0.12837	0.008	T	0.12993	-1.0526	9	0.24483	T	0.36	-0.7214	2.2905	0.04137	0.424:0.0:0.1879:0.3881	.	98	Q8N5N4	CC022_HUMAN	R	98	.	ENSP00000316644:C98R	C	-	1	0	C3orf22	127751535	0.000000	0.05858	0.002000	0.10522	0.262000	0.26303	0.215000	0.17562	0.048000	0.15891	0.260000	0.18958	TGC	C3orf22	-	NULL	ENSG00000180697		0.617	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf22	HGNC	protein_coding	OTTHUMT00000370231.2	-	0	79	0	A	NM_152533		126268845	-1	tier1	-	no_errors	ENST00000318225	ensembl	human	known	74_37	missense	25.81	92	32	SNP	0.003	G	G	126268845	A	G	126268845	3	3	136	1	0	0	0	0	1	0	0	0	2222	159	6	4	137	4	C3orf22	3	126268845	Missense_Mutation	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09	2634333	126268845	71753585	27	34842											
ZBTB38	253461	genome.wustl.edu	37	chr3	141162393	141162393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccctgaacaggttggatcGgcatgaacagatctgcatga	12	8	11	10	1	1	4	0	3	1	1	2	5	1	5	1	3	3	3	1	3	2	1	rs555322688		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:141162393G>T	ENST00000514251.1	+	4	1442	c.1163G>T	c.(1162-1164)cGg>cTg	p.R388L	ZBTB38_ENST00000321464.5_Missense_Mutation_p.R389L|ZBTB38_ENST00000441582.2_Missense_Mutation_p.R388L					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						AGGTTGGATCGGCATGAACAG	0.478																																																	0													131	128	129					3																	141162393		1942	4137	6079	SO:0001583	missense	0			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.1163G>T	3.37:g.141162393G>T	ENSP00000426387:p.Arg388Leu			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R389L	ENST00000514251.1	37	c.1166	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376291	0.42105	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.72	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.300838	0.33346	N	0.005001	T	0.69895	0.3162	L	0.27053	0.805	0.19945	N	0.999941	P;P	0.49961	0.858;0.93	B;B	0.43274	0.411;0.414	T	0.64050	-0.6498	9	.	.	.	-20.5499	11.9135	0.52753	0.0763:0.1269:0.7967:0.0	.	389;388	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	388;388;388;389	ENSP00000424254:R388L;ENSP00000426387:R388L;ENSP00000406955:R388L;ENSP00000372635:R389L	.	R	+	2	0	ZBTB38	142645083	0.994000	0.37717	0.972000	0.41901	0.896000	0.52359	2.593000	0.46180	2.699000	0.92147	0.591000	0.81541	CGG	ZBTB38	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177311		0.478	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	-	0	32	0	G			141162393	1	tier1	-	no_errors	ENST00000321464	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.349	T	T	141162393	G	T	141162393	3	4	136	1	0	0	0	0	1	0	0	0	17587	1116	39	2	1165	2	ZBTB38	3	141162393	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	14893548	141162393	56860037	28	34843											
HES1	3280	genome.wustl.edu	37	chr3	193854764	193854764	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagagctcgcggcattcCaagctggagaaggcggacat	11	6	14	10	3	0	2	0	0	0	2	2	4	1	3	1	4	3	4	1	4	2	1	rs376638002		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:193854764C>T	ENST00000232424.3	+	3	455	c.219C>T	c.(217-219)tcC>tcT	p.S73S		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CGCGGCATTCCAAGCTGGAGA	0.642																																																	0													68	70	69					3																	193854764		2203	4300	6503	SO:0001819	synonymous_variant	0			L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"Basic helix-loop-helix proteins"	5192	protein-coding gene	gene with protein product		139605	"hairy homolog (Drosophila)", "hairy and enhancer of split 1, (Drosophila)"	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.219C>T	3.37:g.193854764C>T			A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	pfam_Orange,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.S73	ENST00000232424.3	37	c.219	CCDS3305.1	3																																																																																			HES1	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000114315		0.642	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES1	HGNC	protein_coding	OTTHUMT00000342632.1	-	0	50	0	C			193854764	1	tier1	-	no_errors	ENST00000232424	ensembl	human	known	74_37	silent	29.85	47	20	SNP	1.000	T	T	193854764	C	T	193854764	2	4	136	1	0	0	0	0	0	0	0	1	7092	581	21	3		3	HES1	3	193854764	Silent	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	52692371	193854764	4167666	29	34844											
BOD1L	259282	genome.wustl.edu	37	chr4	13604149	13604149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacctgggcttcttttatGcttaagtttgacagtttcag	7	19	8	7	0	2	1	1	1	1	0	2	1	2	1	1	1	2	4	1	1	3	8			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr4:13604149G>T	ENST00000040738.5	-	10	4510	c.4375C>A	c.(4375-4377)Cat>Aat	p.H1459N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1459						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTCTTTTATGCTTAAGTTTG	0.393																																																	0													90	75	80					4																	13604149		2203	4300	6503	SO:0001583	missense	0			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.4375C>A	4.37:g.13604149G>T	ENSP00000040738:p.His1459Asn		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.H1459N	ENST00000040738.5	37	c.4375	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	7.490	0.650481	0.14516	.	.	ENSG00000038219	ENST00000040738	T	0.06528	3.29	5.37	2.29	0.28610	.	1.676220	0.03225	N	0.178090	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.21546	0.035	T	0.39981	-0.9587	10	0.21540	T	0.41	0.2215	7.0919	0.25289	0.2179:0.2644:0.5177:0.0	.	1459	Q8NFC6	BOD1L_HUMAN	N	1459	ENSP00000040738:H1459N	ENSP00000040738:H1459N	H	-	1	0	BOD1L	13213247	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.029000	0.13666	0.546000	0.28920	0.650000	0.86243	CAT	BOD1L1	-	NULL	ENSG00000038219		0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	68	0	G	NM_148894		13604149	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	T	T	13604149	G	T	13604149	3	4	136	1	0	0	0	0	1	0	0	0	1485	1319	46	3	4848	3	BOD1L	4	13604149	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09		13604149	177550127	30	34845											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33577086	33577087	+	Frame_Shift_Ins	INS	-	-	T																															cgggctttagtgttggtgggINSttttttccattggaaatagt																										TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr5:33577086_33577087insT	ENST00000504830.1	-	19	3379_3380	c.3044_3045insA	c.(3043-3045)aacfs	p.N1015fs	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Frame_Shift_Ins_p.N930fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1015	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N1015T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGTTGGTGGGTTTTTTCCATT	0.53										HNSCC(64;0.19)																																							1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			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.3045dupA	5.37:g.33577092_33577092dupT	ENSP00000422554:p.Asn1015fs		A2RRN9|A5D6V6|Q6UWL3	Frame_Shift_Ins	INS	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.N1015fs	ENST00000504830.1	37	c.3045_3044	CCDS34140.1	5																																																																																			ADAMTS12	-	NULL	ENSG00000151388		0.53	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2		0	69	0	-	NM_030955		33577087	-1	tier1		no_errors	ENST00000504830	ensembl	human	known	74_37	frame_shift_ins	39.56	55	36	INS	0.008:0.083	T	T	33577087	-	T	33577086	7	5	136	1	0	1	1	0	0	0	0	0	257	1252	44	0	1763	0	ADAMTS12	5	33577086	Frame_Shift_Ins	INS	-	TCGA-M9-A5M8-01A-11D-A28B-09		33577086	147338174	31	34846											
MAP3K1	4214	genome.wustl.edu	37	chr5	56167793	56167793	+	Missense_Mutation	SNP	A	A	T	1	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	cttgttgggcatgcttgatgAagaaagtcttacagtgtgtg	9	14	13	5	0	1	3	0	2	1	1	1	3	1	3	0	1	2	3	0	1	3	4			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr5:56167793A>T	ENST00000399503.3	+	7	1358	c.1358A>T	c.(1357-1359)gAa>gTa	p.E453V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	453					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)		ATGCTTGATGAAGAAAGTCTT	0.403																																																	0													132	133	133					5																	56167793		1928	4143	6071	SO:0001583	missense	0			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.1358A>T	5.37:g.56167793A>T	ENSP00000382423:p.Glu453Val			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.E453V	ENST00000399503.3	37	c.1358	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	A	28.6	4.936665	0.92458	.	.	ENSG00000095015	ENST00000399503	T	0.71103	-0.54	5.62	5.62	0.85841	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.74084	0.3670	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	P	0.59115	0.852	T	0.74699	-0.3577	10	0.44086	T	0.13	.	16.1146	0.81295	1.0:0.0:0.0:0.0	.	453	Q13233	M3K1_HUMAN	V	453	ENSP00000382423:E453V	ENSP00000382423:E453V	E	+	2	0	MAP3K1	56203550	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	8.052000	0.89448	2.260000	0.74910	0.528000	0.53228	GAA	MAP3K1	-	pfscan_Znf_RING	ENSG00000095015		0.403	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	-	0	24	0	A	XM_042066		56167793	1	tier1	-	no_errors	ENST00000399503	ensembl	human	novel	74_37	missense	30.43	16	7	SNP	1.000	T	T	56167793	A	T	56167793	3	4	136	1	0	0	0	0	1	0	0	0	9281	246	9	5	1384	5	MAP3K1	5	56167793	Missense_Mutation	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09	22590707	56167793	124747467	32	34847											
PCSK1	5122	genome.wustl.edu	37	chr5	95746477	95746477	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattagacaaaagcaacataCgattctctggtcggtgtaat	15	11	8	7	2	1	1	0	0	1	1	3	2	1	1	0	2	3	2	0	2	7	4			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr5:95746477C>T	ENST00000311106.3	-	8	1333		c.e8+1		PCSK1_ENST00000508626.1_Splice_Site|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1						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)"	AAGCAACATACGATTCTCTGG	0.507																																																	0													160	140	147					5																	95746477		2203	4300	6503	SO:0001630	splice_region_variant	0				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.1095+1G>A	5.37:g.95746477C>T			B7Z8T7|E9PHA1|P78478|Q92532	Splice_Site	SNP	-	e8+1	ENST00000311106.3	37	c.1095+1	CCDS4081.1	5	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524465	0.85600	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2249	0.86966	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK1	95772233	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.487000	0.81328	2.584000	0.87258	0.585000	0.79938	.	PCSK1	-	-	ENSG00000175426		0.507	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK1	HGNC	protein_coding	OTTHUMT00000242851.1	-	0	46	0	C	NM_000439	Intron	95746477	-1	tier1	-	no_errors	ENST00000311106	ensembl	human	known	74_37	splice_site	43.75	18	14	SNP	1.000	T	T	95746477	C	T	95746477	5	4	136	1	0	0	0	0	0	0	1	0	11639	550	19	1	1193	1	PCSK1	5	95746477	Splice_Site	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	39578684	95746477	85168783	33	34848											
SLCO6A1	133482	genome.wustl.edu	37	chr5	101755694	101755694	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgacacctcccagaagctgGccaagtgcacctcctggaat	11	7	9	14	0	0	2	0	1	0	1	2	3	2	3	5	2	2	2	5	2	3	0			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr5:101755694G>T	ENST00000506729.1	-	8	1479	c.1308C>A	c.(1306-1308)ggC>ggA	p.G436G	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.G436G|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Silent_p.G374G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	436						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCAGAAGCTGGCCAAGTGCAC	0.353																																																	0													43	47	46					5																	101755694		2203	4300	6503	SO:0001819	synonymous_variant	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1308C>A	5.37:g.101755694G>T			A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.G436	ENST00000506729.1	37	c.1308	CCDS34206.1	5																																																																																			SLCO6A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000205359		0.353	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1		0	23	0	G	NM_173488		101755694	-1			no_errors	ENST00000379807	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.800	T	T	101755694	G	T	101755694	2	4	136	1	0	0	0	0	0	0	0	1	14777	1190	42	3		3	SLCO6A1	5	101755694	Silent	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	6009217	101755694	79159566	34	34849											
PCDHA13	56136	genome.wustl.edu	37	chr5	140263741	140263741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtggggctgtacactggcGagatcagcacgacgcgccct	7	6	15	13	5	1	1	1	0	0	1	1	3	1	1	1	3	2	3	1	3	1	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr5:140263741G>A	ENST00000289272.2	+	1	1888	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E630K|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	630	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)			GTACACTGGCGAGATCAGCAC	0.687																																					Melanoma(147;1739 1852 5500 27947 37288)												0													66	68	67					5																	140263741		2203	4298	6501	SO:0001583	missense	0			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.1888G>A	5.37:g.140263741G>A	ENSP00000289272:p.Glu630Lys		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E630K	ENST00000289272.2	37	c.1888	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009101	0.75046	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.53206	0.63;0.63	4.15	4.15	0.48705	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75729	0.3889	M	0.92880	3.355	0.34118	D	0.663812	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.949;0.989;0.99	D	0.87070	0.2159	9	0.87932	D	0	.	16.6313	0.85033	0.0:0.0:1.0:0.0	.	630;630;630	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	K	630	ENSP00000386821:E630K;ENSP00000289272:E630K	ENSP00000289272:E630K	E	+	1	0	PCDHA13	140243925	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.404000	0.52623	2.136000	0.66102	0.655000	0.94253	GAG	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000239389		0.687	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0	93	0	G	NM_018904		140263741	1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	44.76	58	47	SNP	1.000	A	A	140263741	G	A	140263741	3	1	136	1	0	0	0	0	1	0	0	0	11562	1059	37	1	1890	1	PCDHA13	5	140263741	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	38508047	140263741	40651519	35	34850											
AKD1	221264	genome.wustl.edu	37	chr6	109819047	109819047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagtagccctggagctccGcacacttagggaatcgactc	10	7	11	13	2	0	0	0	0	0	0	3	4	1	2	2	2	2	3	2	2	3	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr6:109819047G>A	ENST00000424296.2	-	37	5244	c.5168C>T	c.(5167-5169)gCg>gTg	p.A1723V	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1723					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)										CTGGAGCTCCGCACACTTAGG	0.498																																																	0													143	135	137					6																	109819047		2203	4300	6503	SO:0001583	missense	0			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.5168C>T	6.37:g.109819047G>A	ENSP00000410186:p.Ala1723Val		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A1723V	ENST00000424296.2	37	c.5168	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.87|10.87	1.472192|1.472192	0.26423|0.26423	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000470564	T|.	0.62788|.	0.0|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.155105|.	0.56097|.	D|.	0.000025|.	T|T	0.67906|0.67906	0.2943|0.2943	L|L	0.61036|0.61036	1.89|1.89	0.80722|0.80722	D|D	1|1	P;D|.	0.58620|.	0.47;0.983|.	B;P|.	0.44394|.	0.03;0.448|.	T|T	0.64896|0.64896	-0.6299|-0.6299	9|5	.|.	.|.	.|.	.|.	19.5146|19.5146	0.95157|0.95157	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	108;1723|.	B7ZL24;Q5TCS8|.	.;AKD1_HUMAN|.	V|W	1723|561	ENSP00000410186:A1723V|.	.|.	A|R	-|-	2|1	0|2	AKD1|AKD1	109925740|109925740	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.923000|0.923000	0.55619|0.55619	5.408000|5.408000	0.66368|0.66368	2.620000|2.620000	0.88729|0.88729	0.561000|0.561000	0.74099|0.74099	GCG|CGG	AK9	-	NULL	ENSG00000155085		0.498	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding		-	0	46	0	G	NM_001145128		109819047	-1	tier1	-	no_errors	ENST00000424296	ensembl	human	known	74_37	missense	26.58	58	21	SNP	0.981	A	A	109819047	G	A	109819047	3	1	136	1	0	0	0	0	1	0	0	0	460	1087	38	1	587	1	AKD1	6	109819047	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09		109819047	61296020	36	34851											
LPA	4018	genome.wustl.edu	37	chr6	161006106	161006106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagtataatgggatcctccGatgccaatgtggtgtcatag	11	12	11	7	1	1	0	1	0	0	0	3	2	3	1	3	2	1	1	3	2	5	4	rs370130400		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr6:161006106G>A	ENST00000316300.5	-	26	4305	c.4261C>T	c.(4261-4263)Cgg>Tgg	p.R1421W	LPA_ENST00000447678.1_Missense_Mutation_p.R1421W			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3929	Kringle 13. {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)	p.R1421R(1)		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)	GGGATCCTCCGATGCCAATGT	0.443																																																	1	Substitution - coding silent(1)	large_intestine(1)						G	TRP/ARG	1,4351	2.1+/-5.4	0,1,2175	216	214	215		4261	-5.1	0	6		215	0,8590		0,0,4295	no	missense	LPA	NM_005577.2	101	0,1,6470	AA,AG,GG		0.0,0.023,0.0077	probably-damaging	1421/2041	161006106	1,12941	2176	4295	6471	SO:0001583	missense	0			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.4261C>T	6.37:g.161006106G>A	ENSP00000321334:p.Arg1421Trp		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.R1421W	ENST00000316300.5	37	c.4261	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	g	5.546	0.285577	0.10513	2.3E-4	0.0	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.68025	-0.3;-0.3	2.56	-5.12	0.02893	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.56321	0.1977	M	0.62209	1.925	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53746	-0.8395	9	0.72032	D	0.01	.	1.0197	0.01515	0.3788:0.2979:0.174:0.1493	.	3929	P08519	APOA_HUMAN	W	1421	ENSP00000321334:R1421W;ENSP00000395608:R1421W	ENSP00000321334:R1421W	R	-	1	2	LPA	160926096	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-5.486000	0.00118	-1.618000	0.01568	-0.436000	0.05848	CGG	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000198670		0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0	122	0	G	NM_005577		161006106	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	32.81	129	63	SNP	0.003	A	A	161006106	G	A	161006106	3	1	136	1	0	0	0	0	1	0	0	0	8938	1057	37	1	1917	1	LPA	6	161006106	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	51187059	161006106	10108961	37	34852											
RSPH10B	728194	genome.wustl.edu	37	chr7	6798735	6798735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaaggggaaaaggttcGtgggctgtatgagggagaag	12	8	18	3	1	0	3	0	2	0	1	1	5	0	4	0	5	0	3	0	5	6	3	rs199536223		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr7:6798735G>A	ENST00000403107.1	+	3	662	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RSPH10B2_ENST00000297186.3_Missense_Mutation_p.R92H|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.R92H|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.R92H|RSPH10B2_ENST00000359718.3_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	92										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GAAAAGGTTCGTGGGCTGTAT	0.438																																																	0								G	HIS/ARG	8,3516		0,8,1754	5	5	5		275	1.3	0.9	7		5	125,7477		0,125,3676	no	missense	RSPH10B2	NM_001099697.1	29	0,133,5430	AA,AG,GG		1.6443,0.227,1.1954	benign	92/871	6798735	133,10993	1762	3801	5563	SO:0001583	missense	0				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.275G>A	7.37:g.6798735G>A	ENSP00000384766:p.Arg92His		A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.R92H	ENST00000403107.1	37	c.275	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	G	4.629	0.116979	0.08881	0.00227	0.016443	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.21	1.33	0.21861	.	0.588391	0.17861	N	0.159518	T	0.12902	0.0313	N	0.21583	0.68	0.24340	N	0.994965	B	0.23316	0.083	B	0.22386	0.039	T	0.10823	-1.0613	10	0.45353	T	0.12	.	5.6641	0.17684	0.3696:0.0:0.6304:0.0	.	92	B2RC85	R10B2_HUMAN	H	92	ENSP00000384766:R92H;ENSP00000386102:R92H;ENSP00000297186:R92H;ENSP00000416710:R92H	ENSP00000297186:R92H	R	+	2	0	RSPH10B2	6765260	0.097000	0.21791	0.863000	0.33907	0.273000	0.26683	0.336000	0.19823	0.198000	0.20407	0.398000	0.26397	CGT	RSPH10B2	-	pfam_MORN	ENSG00000169402		0.438	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	-	0	15	0	G	NM_001099697		6798735	1	tier1	rs199536223	no_errors	ENST00000297186	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.378	A	A	6798735	G	A	6798735	3	1	136	1	0	0	0	0	1	0	0	0	13748	1145	40	1	2970	1	RSPH10B	7	6798735	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09		6798735	152339928	38	34853											
CSMD1	64478	genome.wustl.edu	37	chr8	2910146	2910146	+	Missense_Mutation	SNP	A	A	G	1	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	aaatgaaccgtttcctggggAttctgggattccacaggaca	11	10	11	9	1	1	1	0	1	1	0	3	4	3	4	3	4	1	1	3	4	2	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr8:2910146A>G	ENST00000520002.1	-	51	8056	c.7501T>C	c.(7501-7503)Tcc>Ccc	p.S2501P	CSMD1_ENST00000537824.1_Missense_Mutation_p.S2500P|CSMD1_ENST00000602723.1_Missense_Mutation_p.S2501P|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2501P|CSMD1_ENST00000542608.1_Missense_Mutation_p.S2500P|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2501P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2501	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)		TTTCCTGGGGATTCTGGGATT	0.403																																																	0													40	38	39					8																	2910146		1830	4100	5930	SO:0001583	missense	0					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.7501T>C	8.37:g.2910146A>G	ENSP00000430733:p.Ser2501Pro		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S2501P	ENST00000520002.1	37	c.7501		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.89|13.89	2.371712|2.371712	0.42003|0.42003	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.64085	.|-0.08;-0.08;-0.08;-0.08	5.13|5.13	2.75|2.75	0.32379|0.32379	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.146399	.|0.46758	.|D	.|0.000271	T|T	0.40322|0.40322	0.1112|0.1112	N|N	0.17594|0.17594	0.5|0.5	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.09022	.|0.0;0.0;0.002	.|B;B;B	.|0.12156	.|0.001;0.007;0.007	T|T	0.08472|0.08472	-1.0720|-1.0720	5|10	.|0.20519	.|T	.|0.43	.|.	7.7501|7.7501	0.28892|0.28892	0.7039:0.1736:0.0:0.1224|0.7039:0.1736:0.0:0.1224	.|.	.|2501;2501;2500	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	T|P	1917|2501;2501;2362;2500;2500	.|ENSP00000383047:S2501P;ENSP00000430733:S2501P;ENSP00000441462:S2500P;ENSP00000446243:S2500P	.|ENSP00000320445:S2362P	I|S	-|-	2|1	0|0	CSMD1|CSMD1	2897553|2897553	0.287000|0.287000	0.24315|0.24315	0.994000|0.994000	0.49952|0.49952	0.969000|0.969000	0.65631|0.65631	-0.165000|-0.165000	0.09968|0.09968	0.349000|0.349000	0.23975|0.23975	0.528000|0.528000	0.53228|0.53228	ATC|TCC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.403	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	49	0	A	NM_033225		2910146	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.999	G	G	2910146	A	G	2910146	3	3	136	1	0	0	0	0	1	0	0	0	3953	333	12	4	3280	4	CSMD1	8	2910146	Missense_Mutation	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09		2910146	143453876	39	34854											
UNC5D	137970	genome.wustl.edu	37	chr8	35624429	35624429	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcccctgcaggaagtcccgTtctcccgcgtgtggtgcagt	4	10	12	15	3	1	0	0	0	1	0	4	1	3	1	4	2	2	3	4	2	1	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr8:35624429T>A	ENST00000404895.2	+	15	2651	c.2323T>A	c.(2323-2325)Ttc>Atc	p.F775I	UNC5D_ENST00000449677.1_Missense_Mutation_p.F351I|UNC5D_ENST00000453357.2_Missense_Mutation_p.F770I|UNC5D_ENST00000287272.2_Missense_Mutation_p.F706I|UNC5D_ENST00000420357.1_Missense_Mutation_p.F708I|UNC5D_ENST00000416672.1_Missense_Mutation_p.F780I	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	775					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGAAGTCCCGTTCTCCCGCGT	0.552																																																	0													86	74	78					8																	35624429		2203	4300	6503	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2323T>A	8.37:g.35624429T>A	ENSP00000385143:p.Phe775Ile		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.F775I	ENST00000404895.2	37	c.2323	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	T	35	5.455113	0.96223	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.61392	0.13;0.54;0.51;0.14;0.11;1.99	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.994;0.996;0.991	T	0.81933	-0.0706	10	0.87932	D	0	-26.7883	16.1376	0.81497	0.0:0.0:0.0:1.0	.	351;770;775	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	I	775;708;706;780;770;351	ENSP00000385143:F775I;ENSP00000392739:F708I;ENSP00000287272:F706I;ENSP00000412652:F780I;ENSP00000394303:F770I;ENSP00000397211:F351I	ENSP00000287272:F706I	F	+	1	0	UNC5D	35743971	1.000000	0.71417	0.930000	0.37139	0.992000	0.81027	8.040000	0.89188	2.212000	0.71576	0.533000	0.62120	TTC	UNC5D	-	NULL	ENSG00000156687		0.552	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0	57	0	T			35624429	1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	missense	30.19	37	16	SNP	0.999	A	A	35624429	T	A	35624429	3	1	136	1	0	0	0	0	1	0	0	0	17044	1725	60	5	2381	5	UNC5D	8	35624429	Missense_Mutation	SNP	T	TCGA-M9-A5M8-01A-11D-A28B-09	32714283	35624429	110739593	40	34855											
SNAI2	6591	genome.wustl.edu	37	chr8	49833768	49833768	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgtgtgtccagttcgctGtagtttggctttttggaggc	4	17	14	6	1	0	0	0	0	0	0	2	1	1	1	1	3	0	6	1	3	2	6			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr8:49833768G>C	ENST00000396822.1	-	2	414	c.57C>G	c.(55-57)taC>taG	p.Y19*	SNAI2_ENST00000020945.1_Nonsense_Mutation_p.Y19*			O43623	SNAI2_HUMAN	snail family zinc finger 2	19	SNAG domain. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CCAGTTCGCTGTAGTTTGGCT	0.483																																																	0													157	155	155					8																	49833768		2203	4300	6503	SO:0001587	stop_gained	0			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.57C>G	8.37:g.49833768G>C	ENSP00000380034:p.Tyr19*		B2R6P6|Q53FC1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y19*	ENST00000396822.1	37	c.57	CCDS6146.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.146819	0.97324	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	.	.	.	5.22	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.6084	14.6564	0.68835	0.0831:0.0:0.9169:0.0	.	.	.	.	X	19	.	.	Y	-	3	2	SNAI2	49996321	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.088000	0.41663	2.425000	0.82216	0.313000	0.20887	TAC	SNAI2	-	NULL	ENSG00000019549		0.483	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI2	HGNC	protein_coding	OTTHUMT00000313873.2	-	0	54	0	G	NM_003068		49833768	-1	tier1	-	no_errors	ENST00000020945	ensembl	human	known	74_37	nonsense	48.84	22	21	SNP	1.000	C	C	49833768	G	C	49833768	4	2	136	1	0	0	0	0	0	1	0	0	14872	1372	48	5	761	5	SNAI2	8	49833768	Nonsense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	14209339	49833768	96530254	41	34856											
SNTG1	54212	genome.wustl.edu	37	chr8	51617159	51617159	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaactccaggttttcaccaGgacagtgacctgctggaccg	9	9	11	12	1	1	1	1	1	0	0	2	3	2	3	4	3	2	3	4	3	1	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr8:51617159G>A	ENST00000522124.1	+	16	1699		c.e16-1		SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTTTTCACCAGGACAGTGACC	0.547																																																	0													129	108	115					8																	51617159		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1039-1G>A	8.37:g.51617159G>A			Q2M3Q0|Q9NY98	Splice_Site	SNP	-	e14-1	ENST00000522124.1	37	c.1039-1	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558368	0.86231	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0775	0.89432	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNTG1	51779712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.141000	0.94612	2.577000	0.86979	0.643000	0.83706	.	SNTG1	-	-	ENSG00000147481		0.547	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	-	0	27	0	G		Intron	51617159	1	tier1	-	no_errors	ENST00000518864	ensembl	human	known	74_37	splice_site	32.65	33	16	SNP	1.000	A	A	51617159	G	A	51617159	5	1	136	1	0	0	0	0	0	0	1	0	14919	1014	35	3	1092	3	SNTG1	8	51617159	Splice_Site	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	1783391	51617159	94746863	42	34857											
UBR5	51366	genome.wustl.edu	37	chr8	103283449	103283449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcccggtctctctctcctCggttccttaatctctgcatt	3	18	5	15	2	3	0	0	0	3	0	10	0	6	0	3	2	1	2	3	2	1	4			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr8:103283449C>T	ENST00000520539.1	-	49	7604	c.6998G>A	c.(6997-6999)cGa>cAa	p.R2333Q	UBR5_ENST00000518205.1_Missense_Mutation_p.R62Q|UBR5_ENST00000521922.1_Missense_Mutation_p.R2327Q|UBR5_ENST00000220959.4_Missense_Mutation_p.R2333Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2333	Arg/Glu-rich (mixed charge).				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)			tctctctccTCGGTTCCTTAA	0.403																																					Ovarian(131;96 1741 5634 7352 27489)												0													96	82	87					8																	103283449		2202	4300	6502	SO:0001583	missense	0			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.6998G>A	8.37:g.103283449C>T	ENSP00000429084:p.Arg2333Gln		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.R2333Q	ENST00000520539.1	37	c.6998	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718902	0.89205	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922;ENST00000521566	T;T;T;T	0.55930	0.87;0.87;0.49;0.87	5.48	5.48	0.80851	HECT (1);	0.138182	0.44902	N	0.000403	T	0.62097	0.2400	L	0.43152	1.355	0.45791	D	0.998677	D;P	0.59357	0.985;0.934	P;P	0.55871	0.786;0.614	T	0.61642	-0.7021	10	0.49607	T	0.09	.	19.373	0.94498	0.0:1.0:0.0:0.0	.	2327;2333	E7EMW7;O95071	.;UBR5_HUMAN	Q	2333;2333;62;2327;158	ENSP00000429084:R2333Q;ENSP00000220959:R2333Q;ENSP00000428693:R62Q;ENSP00000427819:R2327Q	ENSP00000220959:R2333Q	R	-	2	0	UBR5	103352625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.150000	0.77403	2.568000	0.86640	0.655000	0.94253	CGA	UBR5	-	superfamily_HECT	ENSG00000104517		0.403	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	-	0	38	0	C	NM_015902		103283449	-1	tier1	-	no_errors	ENST00000520539	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	T	T	103283449	C	T	103283449	3	4	136	1	0	0	0	0	1	0	0	0	16954	884	31	1	1445	1	UBR5	8	103283449	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	51666290	103283449	43080573	43	34858											
PTPRD	5789	genome.wustl.edu	37	chr9	8636802	8636802	+	Missense_Mutation	SNP	A	A	T	1	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	aagaggcaactccgccagagAcccctgtctgatcaacgggt	11	6	11	13	2	2	3	1	1	1	2	3	4	3	3	4	2	2	1	4	2	3	0			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr9:8636802A>T	ENST00000381196.4	-	10	650	c.107T>A	c.(106-108)gTc>gAc	p.V36D	PTPRD_ENST00000463477.1_Missense_Mutation_p.V36D|PTPRD_ENST00000486161.1_Missense_Mutation_p.V36D|PTPRD_ENST00000397617.3_Missense_Mutation_p.V36D|PTPRD_ENST00000397611.3_Missense_Mutation_p.V36D|PTPRD_ENST00000540109.1_Missense_Mutation_p.V36D|PTPRD_ENST00000356435.5_Missense_Mutation_p.V36D|PTPRD_ENST00000397606.3_Missense_Mutation_p.V36D|PTPRD_ENST00000537002.1_Missense_Mutation_p.V36D|PTPRD_ENST00000360074.4_Missense_Mutation_p.V36D|PTPRD_ENST00000358503.5_Missense_Mutation_p.V36D|PTPRD_ENST00000355233.5_Missense_Mutation_p.V36D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	36	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)		TCCGCCAGAGACCCCTGTCTG	0.408										TSP Lung(15;0.13)																																							0													83	86	85					9																	8636802		2203	4300	6503	SO:0001583	missense	0			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.107T>A	9.37:g.8636802A>T	ENSP00000370593:p.Val36Asp		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.V36D	ENST00000381196.4	37	c.107	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717793	0.89205	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.70456	0.3226	L	0.35341	1.055	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.998;0.994;0.998;0.989;0.997;0.998;1.0;0.998	T	0.68891	-0.5289	9	.	.	.	.	16.226	0.82293	1.0:0.0:0.0:0.0	.	36;36;36;36;36;36;36;36;36;36	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	D	36	ENSP00000370593:V36D;ENSP00000348812:V36D;ENSP00000353187:V36D;ENSP00000351293:V36D;ENSP00000347373:V36D;ENSP00000380741:V36D;ENSP00000380735:V36D;ENSP00000440515:V36D;ENSP00000438164:V36D;ENSP00000417093:V36D;ENSP00000380731:V36D;ENSP00000417661:V36D;ENSP00000417890:V36D	.	V	-	2	0	PTPRD	8626802	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.288000	0.96055	2.230000	0.72887	0.528000	0.53228	GTC	PTPRD	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000153707		0.408	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	23	0	A			8636802	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	53.33	14	16	SNP	1.000	T	T	8636802	A	T	8636802	3	4	136	1	0	0	0	0	1	0	0	0	12844	275	10	5	5835	5	PTPRD	9	8636802	Missense_Mutation	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09		8636802	132576629	44	34859											
CNTLN	54875	genome.wustl.edu	37	chr9	17135270	17135271	+	Frame_Shift_Ins	INS	-	-	G																															cagggggccggcgagggcctINSgggggggcagctccggctca																								rs578214691	byFrequency	TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr9:17135270_17135271insG	ENST00000380647.3	+	1	291_292	c.207_208insG	c.(208-210)gggfs	p.G70fs	CNTLN_ENST00000262360.5_Frame_Shift_Ins_p.G70fs|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000425824.1_Frame_Shift_Ins_p.G70fs|CNTLN_ENST00000380641.4_Frame_Shift_Ins_p.G70fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	70					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)		GGCGAGGGCCTGGGGGGGCAGC	0.688													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	3	0.000599042	0	0.0014	5008	,	,		14601	0		0.002	False		,,,				2504	0																0																																										SO:0001589	frameshift_variant	0			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.214dupG	9.37:g.17135277_17135277dupG	ENSP00000370021:p.Gly70fs		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Ins	INS	superfamily_Prefoldin	p.A71fs	ENST00000380647.3	37	c.207_208	CCDS43789.1	9																																																																																			CNTLN	-	NULL	ENSG00000044459		0.688	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3		0	20	0	-	NM_017738		17135271	1	tier1		no_errors	ENST00000380647	ensembl	human	known	74_37	frame_shift_ins	40.00	15	10	INS	0.002:0.002	G	G	17135271	-	G	17135270	7	5	136	1	0	1	1	0	0	0	0	0	3646	1567	55	0	209	0	CNTLN	9	17135270	Frame_Shift_Ins	INS	-	TCGA-M9-A5M8-01A-11D-A28B-09	8498468	17135270	124078161	45	34860											
CDKN2A	1029	genome.wustl.edu	37	chr9	21970899	21970899	+	Splice_Site	SNP	A	A	G	1	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	ttctcagatcatcagtcctcAcctgagggaccttccgcggc	7	10	9	15	2	4	2	4	1	1	1	7	3	6	3	4	2	0	0	4	2	0	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr9:21970899A>G	ENST00000304494.5	-	2	728		c.e2+1		CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000498628.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000497750.1_Silent_p.G102G|CDKN2A_ENST00000361570.3_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(12)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ATCAGTCCTCACCTGAGGGAC	0.592		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1328	Whole gene deletion(1316)|Unknown(12)	haematopoietic_and_lymphoid_tissue(277)|skin(167)|central_nervous_system(163)|lung(140)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|pancreas(33)|ovary(33)|breast(31)|kidney(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											33	35	34					9																	21970899		2203	4300	6503	SO:0001630	splice_region_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.457+1T>C	9.37:g.21970899A>G			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	-	e2+2	ENST00000304494.5	37	c.522+2	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	A	7.729	0.698919	0.15106	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9523	0.41647	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21960899	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	2.577000	0.46042	2.125000	0.65367	0.533000	0.62120	.	CDKN2A	-	-	ENSG00000147889		0.592	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0	39	0	A	NM_000077	Intron	21970899	-1	tier1	-	no_errors	ENST00000361570	ensembl	human	known	74_37	splice_site	21.21	26	7	SNP	1.000	G	G	21970899	A	G	21970899	5	3	136	1	0	0	0	0	0	0	1	0	3168	173	6	4	19	4	CDKN2A	9	21970899	Splice_Site	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09	4835629	21970899	119242532	46	34861											
DHTKD1	55526	genome.wustl.edu	37	chr10	12155007	12155007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttaggagacagatggtcCggaacttcagaaaaccactc	13	8	10	10	1	1	3	1	0	0	3	3	5	2	4	2	3	3	1	2	3	4	2	rs553531625		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr10:12155007C>T	ENST00000263035.4	+	13	2325	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	755					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)			ACAGATGGTCCGGAACTTCAG	0.488													C|||	1	0.000199681	8e-04	0	5008	,	,		18742	0		0	False		,,,				2504	0																0													145	129	134					10																	12155007		2203	4300	6503	SO:0001583	missense	0			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.2263C>T	10.37:g.12155007C>T	ENSP00000263035:p.Arg755Trp		Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.R755W	ENST00000263035.4	37	c.2263	CCDS7087.1	10	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102287	0.76983	.	.	ENSG00000181192	ENST00000263035	D	0.92446	-3.04	4.99	4.02	0.46733	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.95739	0.8614	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95977	0.8974	10	0.87932	D	0	-8.9311	12.9171	0.58213	0.2767:0.7233:0.0:0.0	.	755	Q96HY7	DHTK1_HUMAN	W	755	ENSP00000263035:R755W	ENSP00000263035:R755W	R	+	1	2	DHTKD1	12195013	0.989000	0.36119	0.992000	0.48379	0.969000	0.65631	2.667000	0.46808	2.322000	0.78497	0.655000	0.94253	CGG	DHTKD1	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000181192		0.488	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	-	0	75	0	C	NM_018706		12155007	1	tier1	-	no_errors	ENST00000263035	ensembl	human	known	74_37	missense	27.03	81	30	SNP	0.993	T	T	12155007	C	T	12155007	3	4	136	1	0	0	0	0	1	0	0	0	4514	643	23	1	2313	1	DHTKD1	10	12155007	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09		12155007	123379740	47	34862											
MASTL	84930	genome.wustl.edu	37	chr10	27459855	27459855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaatgctgttgcttttcGaagttttaacagtcatatta	13	16	7	5	1	1	1	1	0	0	1	2	2	1	1	0	0	3	4	0	0	6	7	rs563122532		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr10:27459855G>A	ENST00000375940.4	+	8	2024	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.R656Q|MASTL_ENST00000342386.6_Missense_Mutation_p.R656Q			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	656	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						GTTGCTTTTCGAAGTTTTAAC	0.398																																																	0													100	100	100					10																	27459855		2203	4300	6503	SO:0001583	missense	0			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.1967G>A	10.37:g.27459855G>A	ENSP00000365107:p.Arg656Gln		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R656Q	ENST00000375940.4	37	c.1967	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045618	0.75846	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.22539	1.95;1.95;1.95	5.28	4.38	0.52667	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058887	0.64402	N	0.000003	T	0.29817	0.0745	M	0.75264	2.295	0.48452	D	0.999658	D;D;D	0.61697	0.99;0.973;0.98	P;B;B	0.46718	0.525;0.264;0.372	T	0.09509	-1.0671	10	0.46703	T	0.11	-2.5017	11.1234	0.48304	0.1489:0.0:0.8511:0.0	.	656;656;656	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	Q	656	ENSP00000365113:R656Q;ENSP00000343446:R656Q;ENSP00000365107:R656Q	ENSP00000343446:R656Q	R	+	2	0	MASTL	27499861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.400000	0.59709	1.353000	0.45828	0.591000	0.81541	CGA	MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000120539		0.398	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	-	0	22	0	G	NM_032844		27459855	1	tier1	-	no_errors	ENST00000375940	ensembl	human	known	74_37	missense	29.41	23	10	SNP	1.000	A	A	27459855	G	A	27459855	3	1	136	1	0	0	0	0	1	0	0	0	9366	1058	37	1	1997	1	MASTL	10	27459855	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	15304848	27459855	108074892	48	34863											
ZEB1	6935	genome.wustl.edu	37	chr10	31791302	31791302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatgaatgcgagtcagatGcagaaaatgagcaaaaccat	18	7	10	6	1	1	5	1	3	0	2	1	6	1	5	1	0	4	2	1	0	5	0			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr10:31791302G>T	ENST00000320985.10	+	4	456	c.346G>T	c.(346-348)Gca>Tca	p.A116S	ZEB1_ENST00000542815.3_Missense_Mutation_p.A49S|ZEB1_ENST00000361642.5_Missense_Mutation_p.A117S|ZEB1_ENST00000560721.2_Missense_Mutation_p.A96S|ZEB1_ENST00000446923.2_Missense_Mutation_p.A100S|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	116					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CGAGTCAGATGCAGAAAATGA	0.358																																					Ovarian(40;423 959 14296 36701 49589)												0													112	102	105					10																	31791302		2203	4300	6503	SO:0001583	missense	0			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.346G>T	10.37:g.31791302G>T	ENSP00000319248:p.Ala116Ser		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.A117S	ENST00000320985.10	37	c.349	CCDS7169.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.21|14.21	2.466046|2.466046	0.43839|0.43839	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000424869;ENST00000446923|ENST00000543514	T;T;T;T;T|.	0.79749|.	-1.3;-1.3;-1.3;1.02;-1.3|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.66587|0.66587	0.2804|0.2804	L|L	0.51422|0.51422	1.61|1.61	0.38671|0.38671	D|D	0.952312|0.952312	P;P;P;P;P;P|.	0.45348|.	0.856;0.666;0.47;0.59;0.47;0.47|.	P;B;B;B;B;B|.	0.52881|.	0.712;0.182;0.139;0.248;0.15;0.139|.	T|T	0.70189|0.70189	-0.4940|-0.4940	10|6	0.36615|0.87932	T|D	0.2|0	-22.8471|-22.8471	15.756|15.756	0.78025|0.78025	0.0:0.1356:0.8644:0.0|0.0:0.1356:0.8644:0.0	.|.	49;100;116;96;117;116|.	F5H4I8;E9PCM7;B2RBI8;Q5VZ84;Q2KJ05;P37275|.	.;.;.;.;.;ZEB1_HUMAN|.	S|I	116;117;116;49;116;96;117;100|7	ENSP00000354487:A117S;ENSP00000444891:A49S;ENSP00000319248:A116S;ENSP00000415961:A117S;ENSP00000391612:A100S|.	ENSP00000319248:A116S|ENSP00000443742:M7I	A|M	+|+	1|3	0|0	ZEB1|ZEB1	31831308|31831308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.717000|6.717000	0.74707|0.74707	2.800000|2.800000	0.96347|0.96347	0.650000|0.650000	0.86243|0.86243	GCA|ATG	ZEB1	-	NULL	ENSG00000148516		0.358	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	-	0	36	0	G	NM_030751		31791302	1	tier1	-	no_errors	ENST00000361642	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	31791302	G	T	31791302	3	4	136	1	0	0	0	0	1	0	0	0	17671	1319	46	3	374	3	ZEB1	10	31791302	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	4331447	31791302	103743445	49	34864											
ALOX5	240	genome.wustl.edu	37	chr10	45941026	45941026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagccatggcccgattccGcaagaacctcgaggccattg	10	6	12	13	3	0	1	0	0	0	1	2	4	1	2	5	3	2	1	5	3	3	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr10:45941026G>A	ENST00000374391.2	+	14	1969	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.R582H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	639	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GCCCGATTCCGCAAGAACCTC	0.532																																																	0													99	94	96					10																	45941026		2203	4300	6503	SO:0001583	missense	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1916G>A	10.37:g.45941026G>A	ENSP00000363512:p.Arg639His		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom	p.R639H	ENST00000374391.2	37	c.1916	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976004	0.53720	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.90444	-2.67;-2.67	5.14	4.24	0.50183	Lipoxygenase, C-terminal (3);	0.152591	0.64402	N	0.000015	D	0.89543	0.6745	M	0.81179	2.53	0.27278	N	0.958182	P;B;B	0.39862	0.692;0.068;0.043	B;B;B	0.36134	0.218;0.049;0.027	D	0.85291	0.1067	10	0.59425	D	0.04	-26.8399	11.8919	0.52635	0.085:0.0:0.915:0.0	.	582;607;639	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	H	582;639	ENSP00000437634:R582H;ENSP00000363512:R639H	ENSP00000363512:R639H	R	+	2	0	ALOX5	45261032	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	6.597000	0.74118	1.537000	0.49254	0.655000	0.94253	CGC	ALOX5	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000012779		0.532	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	-	0	51	0	G			45941026	1	tier1	-	no_errors	ENST00000374391	ensembl	human	known	74_37	missense	37.84	46	28	SNP	1.000	A	A	45941026	G	A	45941026	3	1	136	1	0	0	0	0	1	0	0	0	540	1087	38	1	1970	1	ALOX5	10	45941026	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	14149724	45941026	89593721	50	34865											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651158	1651169	+	In_Frame_Del	DEL	GGCTGTGGCTCT	GGCTGTGGCTCT	-																															gctgtggctccggctgtggaGgctgtggctctggctgtggg																								rs71454095|rs71454094	byFrequency	TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	GGCTGTGGCTCT	GGCTGTGGCTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr11:1651158_1651169delGGCTGTGGCTCT	ENST00000399676.2	+	1	126_137	c.88_99delGGCTGTGGCTCT	c.(88-99)ggctgtggctctdel	p.GCGS30del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	30						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)		cggctgtggaggctgtggctctggctgtgggg	0.708																																																	0										96,3734		5,86,1824						0.1	0			33	221,7503		7,207,3648	no	coding	KRTAP5-5	NM_001001480.2		12,293,5472	A1A1,A1R,RR		2.8612,2.5065,2.7436				317,11237				SO:0001651	inframe_deletion	0			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.88_99delGGCTGTGGCTCT	11.37:g.1651158_1651169delGGCTGTGGCTCT	ENSP00000382584:p.Gly30_Ser33del		A8MWN2	In_Frame_Del	DEL	NULL	p.SGCG33in_frame_del	ENST00000399676.2	37	c.88_99	CCDS41592.1	11																																																																																			KRTAP5-5	-	NULL	ENSG00000185940		0.708	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	HGNC	protein_coding	OTTHUMT00000127919.1		0	133	0	GGCTGTGGCTCT			1651169	1			no_errors	ENST00000399676	ensembl	human	known	74_37	in_frame_del	6.10	200	13	DEL	0.374:0.384:0.317:0.302:0.301:0.281:0.273:0.283:0.273:0.229:0.033:0.002	0	-	1651169	GGCTGTGGCTCT	-	1651158	7	5	136	1	0	1	0	1	0	0	0	0	8592	1000	35	0	90	0	KRTAP5-5	11	1651158	In_Frame_Del	DEL	GGCTGTGGCTCT	TCGA-M9-A5M8-01A-11D-A28B-09		1651158	133355358	51	34866											
ARRB1	408	genome.wustl.edu	37	chr11	74992149	74992149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcctccaaattctccGcgcagaaggctttgacttca	8	13	6	14	2	4	2	1	1	3	1	7	2	5	2	3	1	0	2	3	1	2	4	rs74550237		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr11:74992149G>A	ENST00000420843.2	-	7	549	c.452C>T	c.(451-453)gCg>gTg	p.A151V	ARRB1_ENST00000360025.3_Missense_Mutation_p.A151V|ARRB1_ENST00000393505.4_Missense_Mutation_p.A151V	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	151	Interaction with SRC. {ECO:0000250}.				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						CAAATTCTCCGCGCAGAAGGC	0.597																																																	0													97	78	84					11																	74992149		2200	4292	6492	SO:0001583	missense	0			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.452C>T	11.37:g.74992149G>A	ENSP00000409581:p.Ala151Val		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.A151V	ENST00000420843.2	37	c.452	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913440	0.92178	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.4	5.4	0.78164	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.66847	0.947;0.941	T	0.56619	-0.7949	10	0.66056	D	0.02	-13.2385	16.6796	0.85288	0.0:0.0:1.0:0.0	.	151;151	P49407-2;P49407	.;ARRB1_HUMAN	V	151;151;151;146	ENSP00000409581:A151V;ENSP00000377141:A151V;ENSP00000353124:A151V;ENSP00000433171:A146V	ENSP00000353124:A151V	A	-	2	0	ARRB1	74669797	1.000000	0.71417	0.510000	0.27712	0.679000	0.39708	9.445000	0.97587	2.559000	0.86315	0.462000	0.41574	GCG	ARRB1	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000137486		0.597	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	-	0	16	0	G	NM_004041		74992149	-1	tier1	rs74550237	no_errors	ENST00000393505	ensembl	human	known	74_37	missense	45.45	12	10	SNP	1.000	A	A	74992149	G	A	74992149	3	1	136	1	0	0	0	0	1	0	0	0	981	1087	38	1	844	1	ARRB1	11	74992149	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	73340991	74992149	60014367	52	34867											
MMP1	4312	genome.wustl.edu	37	chr11	102667492	102667492	+	Silent	SNP	T	T	A	0	1	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	tgagcaagatttcctccaggTccatcaaaaggagagttgtc	12	10	10	9	0	1	3	1	1	0	2	5	4	4	3	3	2	1	2	3	2	3	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr11:102667492T>A	ENST00000315274.6	-	4	595	c.528A>T	c.(526-528)ggA>ggT	p.G176G	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	176	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)	TTCCTCCAGGTCCATCAAAAG	0.433																																																	0													118	104	109					11																	102667492		2203	4299	6502	SO:0001819	synonymous_variant	0			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.528A>T	11.37:g.102667492T>A			P08156	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.G176	ENST00000315274.6	37	c.528	CCDS8322.1	11																																																																																			MMP1	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	ENSG00000196611		0.433	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	-	0	49	0	T	NM_002421		102667492	-1	tier1	-	no_errors	ENST00000315274	ensembl	human	known	74_37	silent	27.14	51	19	SNP	0.338	A	A	102667492	T	A	102667492	2	1	136	1	0	0	0	0	0	0	0	1	9686	1654	58	5		5	MMP1	11	102667492	Silent	SNP	T	TCGA-M9-A5M8-01A-11D-A28B-09	27675343	102667492	32339024	53	34868											
NTM	50863	genome.wustl.edu	37	chr11	132177606	132177606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggctttgtgagtgaagacGaatacttggaaattcagggc	11	12	13	5	1	1	3	1	2	0	1	1	5	1	4	0	3	1	1	0	3	4	5			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr11:132177606G>A	ENST00000374786.1	+	4	1029	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	NTM_ENST00000374791.3_Missense_Mutation_p.E184K|NTM_ENST00000374784.1_Missense_Mutation_p.E184K|NTM_ENST00000425719.2_Missense_Mutation_p.E184K|NTM_ENST00000539799.1_Missense_Mutation_p.E184K|NTM_ENST00000427481.2_Missense_Mutation_p.E175K|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	184	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.E184K(2)|p.E184*(2)		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						GAGTGAAGACGAATACTTGGA	0.493																																																	4	Substitution - Nonsense(2)|Substitution - Missense(2)	large_intestine(2)|lung(2)											100	93	95					11																	132177606		2201	4297	6498	SO:0001583	missense	0			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.550G>A	11.37:g.132177606G>A	ENSP00000363918:p.Glu184Lys		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E184K	ENST00000374786.1	37	c.550	CCDS8491.1	11	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715177	0.89112	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.35421	1.66;1.66;1.31;1.66;1.66;1.66;1.66	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090416	0.85682	D	0.000000	T	0.55689	0.1936	L	0.48935	1.535	0.49213	D	0.999764	D;D;D;D;D;D	0.89917	0.998;1.0;0.997;1.0;0.997;0.997	D;D;P;D;P;P	0.71184	0.954;0.972;0.897;0.972;0.897;0.897	T	0.52419	-0.8578	10	0.56958	D	0.05	-23.1021	20.0185	0.97487	0.0:0.0:1.0:0.0	.	184;175;184;184;184;184	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	K	184;184;175;175;184;184;184	ENSP00000363923:E184K;ENSP00000437668:E184K;ENSP00000448104:E175K;ENSP00000416320:E175K;ENSP00000363918:E184K;ENSP00000396722:E184K;ENSP00000363916:E184K	ENSP00000363916:E184K	E	+	1	0	NTM	131682816	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.180000	0.71981	2.809000	0.96659	0.467000	0.42956	GAA	NTM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000182667		0.493	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	-	0	66	0	G	NM_016522		132177606	1	tier1	-	no_errors	ENST00000539799	ensembl	human	known	74_37	missense	28.44	78	31	SNP	1.000	A	A	132177606	G	A	132177606	3	1	136	1	0	0	0	0	1	0	0	0	10738	1059	37	1	650	1	NTM	11	132177606	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	29510114	132177606	2828910	54	34869											
IGSF9B	22997	genome.wustl.edu	37	chr11	133791054	133791054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtccatcacgaagcggcCgtcagggcctctgctgatga	8	7	14	12	3	3	2	2	2	1	0	4	3	4	2	3	3	2	1	3	3	1	0			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr11:133791054C>T	ENST00000321016.8	-	18	2796	c.2566G>A	c.(2566-2568)Ggc>Agc	p.G856S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G856S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	856					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)		ACGAAGCGGCCGTCAGGGCCT	0.652																																																	0													62	69	67					11																	133791054		2117	4221	6338	SO:0001583	missense	0			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.2566G>A	11.37:g.133791054C>T	ENSP00000317980:p.Gly856Ser		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G856S	ENST00000321016.8	37	c.2566		11	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502532	0.85176	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	D;D	0.85955	-1.81;-2.05	4.47	4.47	0.54385	.	0.000000	0.45361	D	0.000363	D	0.91365	0.7276	M	0.68593	2.085	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.92527	0.6030	10	0.87932	D	0	.	16.9242	0.86172	0.0:1.0:0.0:0.0	.	856	Q9UPX0	TUTLB_HUMAN	S	856;698	ENSP00000317980:G856S;ENSP00000436552:G698S	ENSP00000317980:G856S	G	-	1	0	IGSF9B	133296264	1.000000	0.71417	0.954000	0.39281	0.844000	0.47949	5.586000	0.67503	2.320000	0.78422	0.561000	0.74099	GGC	IGSF9B	-	NULL	ENSG00000080854		0.652	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		-	0	51	0	C	XM_290502		133791054	-1	tier1	-	no_errors	ENST00000321016	ensembl	human	known	74_37	missense	35.71	45	25	SNP	1.000	T	T	133791054	C	T	133791054	3	4	136	1	0	0	0	0	1	0	0	0	7633	652	23	1	1491	1	IGSF9B	11	133791054	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	1613448	133791054	1215462	55	34870											
CACNB3	784	genome.wustl.edu	37	chr12	49221667	49221667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcaaccggccttggccCaaggatagctactgacagcc	10	5	11	15	2	0	1	0	1	0	0	0	2	0	2	4	3	5	2	4	3	4	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr12:49221667C>T	ENST00000301050.2	+	13	1639	c.1440C>T	c.(1438-1440)ccC>ccT	p.P480P	CACNB3_ENST00000540990.1_Silent_p.P467P|CACNB3_ENST00000547230.1_Silent_p.P439P|CACNB3_ENST00000547392.1_Silent_p.P453P|CACNB3_ENST00000536187.2_Silent_p.P479P	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	480					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCTTGGCCCAAGGATAGCT	0.647																																																	0													49	52	51					12																	49221667		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1440C>T	12.37:g.49221667C>T			A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Silent	SNP	pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu,prints_VDCC_L_b3su	p.P480	ENST00000301050.2	37	c.1440	CCDS8769.1	12																																																																																			CACNB3	-	NULL	ENSG00000167535		0.647	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNB3	HGNC	protein_coding	OTTHUMT00000408886.1	-	0	31	0	C			49221667	1	tier1	-	no_errors	ENST00000301050	ensembl	human	known	74_37	silent	40.54	22	15	SNP	0.998	T	T	49221667	C	T	49221667	2	4	136	1	0	0	0	0	0	0	0	1	2561	581	21	3		3	CACNB3	12	49221667	Silent	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09		49221667	84630228	56	34871											
ZNF385A	25946	genome.wustl.edu	37	chr12	54764155	54764155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	gaggtgcggctggagccgggCgcagggacagcggcgagcct	6	3	21	11	5	0	0	0	0	0	0	0	4	0	2	2	6	4	2	2	6	0	0			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr12:54764155C>A	ENST00000338010.5	-	8	1099	c.1046G>T	c.(1045-1047)cGc>cTc	p.R349L	RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000546970.1_Missense_Mutation_p.R329L|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551109.1_Missense_Mutation_p.R329L|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000394313.2_Missense_Mutation_p.R329L|ZNF385A_ENST00000551771.1_Missense_Mutation_p.R248L|ZNF385A_ENST00000352268.6_Missense_Mutation_p.R268L	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	349	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						TGGAGCCGGGCGCAGGGACAG	0.721											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14	14	14					12																	54764155		1949	3867	5816	SO:0001583	missense	0			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"zinc finger protein 385"	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.1046G>T	12.37:g.54764155C>A	ENSP00000338927:p.Arg349Leu	1002	B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.R349L	ENST00000338010.5	37	c.1046	CCDS44911.1	12	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349329	0.61183	.	.	ENSG00000161642	ENST00000551109;ENST00000352268;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000551771	T;T;T;T;T;T	0.49432	1.34;0.78;1.34;1.33;1.34;0.79	3.72	1.83	0.25207	.	0.000000	0.64402	D	0.000002	T	0.58892	0.2154	M	0.68317	2.08	0.51012	D	0.999901	B;D;D	0.76494	0.364;0.999;0.999	B;D;D	0.79784	0.129;0.993;0.993	T	0.53493	-0.8431	10	0.31617	T	0.26	-10.1266	7.0016	0.24813	0.0:0.7215:0.1754:0.1031	.	248;329;329	Q96PM9-2;Q96PM9;F1T0F1	.;Z385A_HUMAN;.	L	329;268;329;349;329;248	ENSP00000449161:R329L;ENSP00000293385:R268L;ENSP00000377849:R329L;ENSP00000338927:R349L;ENSP00000446913:R329L;ENSP00000447162:R248L	ENSP00000338927:R349L	R	-	2	0	ZNF385A	53050422	0.998000	0.40836	0.994000	0.49952	0.926000	0.56050	2.723000	0.47277	0.372000	0.24591	-0.727000	0.03589	CGC	ZNF385A	-	NULL	ENSG00000161642		0.721	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385A	HGNC	protein_coding	OTTHUMT00000406162.1	-	0	50	0	C	NM_015481		54764155	-1	tier1	-	no_errors	ENST00000338010	ensembl	human	known	74_37	missense	43.69	58	45	SNP	1.000	A	A	54764155	C	A	54764155	3	1	136	1	0	0	0	0	1	0	0	0	17924	768	27	2	118	2	ZNF385A	12	54764155	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	5542488	54764155	79087740	57	34872											
NAV3	89795	genome.wustl.edu	37	chr12	78513342	78513344	+	In_Frame_Del	DEL	TGT	TGT	-																															ggttcacagaatcaggatgaTgttgtgctgcatgttagctc																										TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr12:78513342_78513344delTGT	ENST00000397909.2	+	15	3539_3541	c.3366_3368delTGT	c.(3364-3369)gatgtt>gat	p.V1124del	NAV3_ENST00000266692.7_In_Frame_Del_p.V1124del|NAV3_ENST00000228327.6_In_Frame_Del_p.V1124del|NAV3_ENST00000536525.2_In_Frame_Del_p.V1124del			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1124	Ser-rich.					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						ATCAGGATGATGTTGTGCTGCAT	0.507										HNSCC(70;0.22)																																							0																																										SO:0001651	inframe_deletion	0			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.3366_3368delTGT	12.37:g.78513345_78513347delTGT	ENSP00000381007:p.Val1124del		Q8NFW7|Q9Y2E7	In_Frame_Del	DEL	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.V1124in_frame_del	ENST00000397909.2	37	c.3366_3368		12																																																																																			NAV3	-	NULL	ENSG00000067798		0.507	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1		0	56	0	TGT	NM_001024383		78513344	1	tier1		no_errors	ENST00000397909	ensembl	human	known	74_37	in_frame_del	23.21	43	13	DEL	0.197:0.311:0.228	-	-	78513344	TGT	-	78513342	7	5	136	1	0	1	0	1	0	0	0	0	10223	1461	51	0	3424	0	NAV3	12	78513342	In_Frame_Del	DEL	TGT	TCGA-M9-A5M8-01A-11D-A28B-09	23749187	78513342	55338553	58	34873											
BRAP	8315	genome.wustl.edu	37	chr12	112119530	112119530	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tggtctggaagctgtttggaCggagaatctggggcagcgtt	7	11	17	6	2	2	1	0	0	2	1	2	4	2	3	0	6	2	4	0	6	2	2	rs375357747		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr12:112119530C>T	ENST00000327551.6	-	3	404	c.264G>A	c.(262-264)ccG>ccA	p.P88P	BRAP_ENST00000419234.4_Silent_p.P118P|BRAP_ENST00000539060.1_5'Flank			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						GCTGTTTGGACGGAGAATCTG	0.418																																					Pancreas(146;846 1904 7830 25130 26065)												0								C		1,4405	2.1+/-5.4	0,1,2202	172	160	164		354	1	1	12		164	0,8600		0,0,4300	no	coding-synonymous	BRAP	NM_006768.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		118/593	112119530	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.264G>A	12.37:g.112119530C>T			B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.P118	ENST00000327551.6	37	c.354		12																																																																																			BRAP	-	NULL	ENSG00000089234		0.418	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	-	0	76	0	C			112119530	-1	tier1	-	no_errors	ENST00000419234	ensembl	human	known	74_37	silent	8.24	78	7	SNP	1.000	T	T	112119530	C	T	112119530	2	4	136	1	0	0	0	0	0	0	0	1	1501	523	19	1		1	BRAP	12	112119530	Silent	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	33606188	112119530	21732365	59	34874											
ZIC2	7546	genome.wustl.edu	37	chr13	100635191	100635191	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	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	acacacgtctcggtggagcaCgtcggcggcccggagcagag	8	4	16	13	6	1	1	0	0	1	1	3	3	1	3	1	5	2	2	1	5	0	0			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr13:100635191C>G	ENST00000376335.3	+	1	1166	c.873C>G	c.(871-873)caC>caG	p.H291Q		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	291			H -> Y (in HPE5). {ECO:0000269|PubMed:19177455}.		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)					CGGTGGAGCACGTCGGCGGCC	0.587																																					Pancreas(97;119 1522 31925 44771 48764)												0													119	119	119					13																	100635191		2203	4300	6503	SO:0001583	missense	0			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.873C>G	13.37:g.100635191C>G	ENSP00000365514:p.His291Gln		Q5VYA9|Q9H309	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H291Q	ENST00000376335.3	37	c.873	CCDS9495.1	13	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061347	0.55432	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.92446	-3.04	4.69	0.987	0.19790	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.87269	2.87	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.94384	0.7607	10	0.87932	D	0	.	9.9544	0.41657	0.0:0.5693:0.0:0.4307	.	291	O95409	ZIC2_HUMAN	Q	291;40	ENSP00000365514:H291Q	ENSP00000365514:H291Q	H	+	3	2	ZIC2	99433192	0.860000	0.29831	1.000000	0.80357	0.910000	0.53928	0.020000	0.13466	0.297000	0.22615	-0.258000	0.10820	CAC	ZIC2	-	smart_Znf_C2H2-like	ENSG00000043355		0.587	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2	-	0	64	0	C	NM_007129		100635191	1	tier1	-	no_errors	ENST00000376335	ensembl	human	known	74_37	missense	32.26	42	20	SNP	1.000	G	G	100635191	C	G	100635191	3	3	136	1	0	0	0	0	1	0	0	0	17727	535	19	5	875	5	ZIC2	13	100635191	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09		100635191	14534687	60	34875											
GOLGA5	9950	genome.wustl.edu	37	chr14	93275649	93275649	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaattttttaatagaattAaacaaagcaagagcaagagt	20	12	6	3	0	0	3	0	0	0	3	0	3	0	3	0	0	3	2	0	0	10	6			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr14:93275649A>G	ENST00000163416.2	+	4	1033	c.777A>G	c.(775-777)ttA>ttG	p.L259L	GOLGA5_ENST00000355976.2_Silent_p.L259L	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	259					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)		TAATAGAATTAAACAAAGCAA	0.378			T	RET	papillary thyroid																																			Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	0													33	33	33					14																	93275649		2203	4299	6502	SO:0001819	synonymous_variant	0			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.777A>G	14.37:g.93275649A>G			C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Silent	SNP	pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin	p.L259	ENST00000163416.2	37	c.777	CCDS9905.1	14																																																																																			GOLGA5	-	pfam_Golgin_subfamily_A_member_5	ENSG00000066455		0.378	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA5	HGNC	protein_coding	OTTHUMT00000412365.1	-	0	23	0	A			93275649	1	tier1	-	no_errors	ENST00000163416	ensembl	human	known	74_37	silent	44.00	14	11	SNP	1.000	G	G	93275649	A	G	93275649	2	3	136	1	0	0	0	0	0	0	0	1	6582	359	13	4		4	GOLGA5	14	93275649	Silent	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09		93275649	14073891	61	34876											
SLC24A1	9187	genome.wustl.edu	37	chr15	65930493	65930493	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggccattgcggtggatGagctacaggataacaagaag	13	7	15	6	1	0	2	0	1	0	1	0	4	0	4	1	5	4	1	1	5	4	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr15:65930493G>T	ENST00000261892.6	+	3	2205	c.1918G>T	c.(1918-1920)Gag>Tag	p.E640*	SLC24A1_ENST00000544319.2_Intron|SLC24A1_ENST00000339868.6_Intron|SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000399033.4_Nonsense_Mutation_p.E640*|SLC24A1_ENST00000546330.1_Intron	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	640					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						TGCGGTGGATGAGCTACAGGA	0.577																																																	0													53	59	57					15																	65930493		2096	4226	6322	SO:0001587	stop_gained	0			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.1918G>T	15.37:g.65930493G>T	ENSP00000261892:p.Glu640*		O43485|O75184|Q17RM9	Nonsense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	p.E640*	ENST00000261892.6	37	c.1918	CCDS45284.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.155105	0.97329	.	.	ENSG00000074621	ENST00000261892;ENST00000399033	.	.	.	4.43	4.43	0.53597	.	1.504780	0.03609	N	0.234512	.	.	.	.	.	.	0.46823	D	0.999219	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	12.5554	0.56250	0.0:0.0:1.0:0.0	.	.	.	.	X	640	.	ENSP00000261892:E640X	E	+	1	0	SLC24A1	63717547	0.466000	0.25823	0.045000	0.18777	0.892000	0.51952	2.648000	0.46647	1.995000	0.58328	0.511000	0.50034	GAG	SLC24A1	-	tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	ENSG00000074621		0.577	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	HGNC	protein_coding	OTTHUMT00000397304.1	-	0	50	0	G	NM_004727		65930493	1	tier1	-	no_errors	ENST00000261892	ensembl	human	known	74_37	nonsense	6.41	73	5	SNP	0.050	T	T	65930493	G	T	65930493	4	4	136	1	0	0	0	0	0	1	0	0	14510	1291	45	3	30	3	SLC24A1	15	65930493	Nonsense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09		65930493	36600899	62	34877											
CYP1A1	1543	genome.wustl.edu	37	chr15	75015146	75015146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaaatcatcgccctgcCgcaccagggcctgccggatg	7	7	11	16	3	1	1	1	1	0	0	2	2	1	2	6	2	2	1	6	2	1	1	rs368952331		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr15:75015146C>T	ENST00000379727.3	-	2	491	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	CYP1A1_ENST00000395049.4_Missense_Mutation_p.R98Q|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395048.2_Missense_Mutation_p.R98Q|CYP1A1_ENST00000567032.1_Missense_Mutation_p.R98Q			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	98					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	ATCGCCCTGCCGCACCAGGGC	0.617									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																								0								C	GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	46	43	44		293	1.9	1	15		44	0,8590		0,0,4295	no	missense	CYP1A1	NM_000499.3	43	0,1,6491	TT,TC,CC		0.0,0.0228,0.0077	benign	98/513	75015146	1,12983	2197	4295	6492	SO:0001583	missense	0	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.293G>A	15.37:g.75015146C>T	ENSP00000369050:p.Arg98Gln		A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.R98Q	ENST00000379727.3	37	c.293	CCDS10268.1	15	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409688	0.25465	2.28E-4	0.0	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.68331	-0.32;-0.32;-0.32	5.23	1.86	0.25419	.	0.305630	0.38111	N	0.001804	T	0.48277	0.1491	L	0.28740	0.885	0.28780	N	0.899885	B;B	0.32876	0.008;0.388	B;B	0.26517	0.027;0.07	T	0.44065	-0.9352	10	0.42905	T	0.14	.	9.882	0.41238	0.0:0.6594:0.0:0.3406	.	98;98	E7EMT5;P04798	.;CP1A1_HUMAN	Q	98	ENSP00000369050:R98Q;ENSP00000378488:R98Q;ENSP00000378489:R98Q	ENSP00000268062:R98Q	R	-	2	0	CYP1A1	72802199	0.910000	0.30920	0.991000	0.47740	0.635000	0.38103	0.998000	0.29744	0.576000	0.29452	-0.368000	0.07277	CGG	CYP1A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000140465		0.617	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A1	HGNC	protein_coding	OTTHUMT00000286396.1	-	0	60	0	C	NM_000499		75015146	-1	tier1	-	no_errors	ENST00000379727	ensembl	human	known	74_37	missense	16.50	86	17	SNP	0.932	T	T	75015146	C	T	75015146	3	4	136	1	0	0	0	0	1	0	0	0	4158	652	23	1	1269	1	CYP1A1	15	75015146	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	9084653	75015146	27516246	63	34878											
RASGRF1	5923	genome.wustl.edu	37	chr15	79288108	79288108	+	Missense_Mutation	SNP	T	T	A	0	1	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	cgtgatctcctccagcgtgaTctggttgtcacctgggtcct	4	13	11	13	2	3	2	1	2	2	0	6	2	5	2	4	2	1	1	4	2	0	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr15:79288108T>A	ENST00000419573.3	-	21	3323	c.3049A>T	c.(3049-3051)Atc>Ttc	p.I1017F	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Missense_Mutation_p.I233F|RASGRF1_ENST00000558480.2_Missense_Mutation_p.I1001F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1017					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						TCCAGCGTGATCTGGTTGTCA	0.632																																																	0													164	125	138					15																	79288108		2196	4293	6489	SO:0001583	missense	0			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.3049A>T	15.37:g.79288108T>A	ENSP00000405963:p.Ile1017Phe		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.I1017F	ENST00000419573.3	37	c.3049	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	T	13.73	2.325186	0.41197	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.29917	1.55;1.55	4.01	2.86	0.33363	Ras guanine nucleotide exchange factor, domain (1);	0.425981	0.22344	N	0.061286	T	0.21307	0.0513	N	0.22421	0.69	0.31729	N	0.637252	P;B;B;B	0.41710	0.76;0.286;0.286;0.409	B;B;B;B	0.44044	0.439;0.125;0.142;0.243	T	0.14008	-1.0488	10	0.39692	T	0.17	.	5.8863	0.18884	0.0:0.2248:0.0:0.7752	.	413;1001;1019;1001	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	F	1017;1001;233	ENSP00000405963:I1017F;ENSP00000378228:I233F	ENSP00000378224:I1001F	I	-	1	0	RASGRF1	77075163	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.657000	0.37366	0.502000	0.28037	0.397000	0.26171	ATC	RASGRF1	-	superfamily_Ras_GEF_dom	ENSG00000058335		0.632	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0	32	0	T	NM_002891		79288108	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	44.44	40	32	SNP	1.000	A	A	79288108	T	A	79288108	3	1	136	1	0	0	0	0	1	0	0	0	13117	1435	50	5	804	5	RASGRF1	15	79288108	Missense_Mutation	SNP	T	TCGA-M9-A5M8-01A-11D-A28B-09	4272962	79288108	23243284	64	34879											
PKD1	5310	genome.wustl.edu	37	chr16	2160250	2160250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggaagtagcggccacCgcccaccacctgcagcccct	7	4	13	17	2	0	0	0	0	0	0	0	1	0	1	7	4	3	2	7	4	2	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr16:2160250C>T	ENST00000262304.4	-	15	5126	c.4918G>A	c.(4918-4920)Ggt>Agt	p.G1640S	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G1640S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1640	PKD 12. {ECO:0000255|PROSITE- ProRule:PRU00151}.				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						TAGCGGCCACCGCCCACCACC	0.617																																																	0													20	20	20					16																	2160250		2171	4272	6443	SO:0001583	missense	0			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.4918G>A	16.37:g.2160250C>T	ENSP00000262304:p.Gly1640Ser		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.G1640S	ENST00000262304.4	37	c.4918	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	c	3.215	-0.160795	0.06502	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.57907	0.37;0.37	5.3	4.35	0.52113	Polycystin cation channel (1);PKD domain (1);	0.226336	0.45606	D	0.000350	T	0.35189	0.0923	L	0.44542	1.39	0.09310	N	1	P;P	0.46020	0.871;0.683	B;B	0.32805	0.144;0.153	T	0.17531	-1.0366	10	0.22706	T	0.39	.	8.5645	0.33531	0.1357:0.7246:0.0:0.1397	.	1640;1640	P98161-3;P98161	.;PKD1_HUMAN	S	1640	ENSP00000262304:G1640S;ENSP00000399501:G1640S	ENSP00000262304:G1640S	G	-	1	0	PKD1	2100251	0.001000	0.12720	0.018000	0.16275	0.014000	0.08584	0.784000	0.26816	0.642000	0.30620	-1.611000	0.00801	GGT	PKD1	-	pfam_PKD_dom,tigrfam_Polycystin_cat	ENSG00000008710		0.617	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0	128	0	C			2160250	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	missense	27.27	96	36	SNP	0.119	T	T	2160250	C	T	2160250	3	4	136	1	0	0	0	0	1	0	0	0	12002	652	23	1	8121	1	PKD1	16	2160250	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09		2160250	88194503	65	34880											
ATF7IP2	80063	genome.wustl.edu	37	chr16	10565979	10565981	+	In_Frame_Del	DEL	TGT	TGT	-																															cattttagtaacaatgatgaTgttatgttgatttctgtgga																								rs566280429|rs199605421	byFrequency	TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr16:10565979_10565981delTGT	ENST00000396560.2	+	8	1592_1594	c.1365_1367delTGT	c.(1363-1368)gatgtt>gat	p.V456del	ATF7IP2_ENST00000396559.1_In_Frame_Del_p.V456del|ATF7IP2_ENST00000356427.2_In_Frame_Del_p.V456del|ATF7IP2_ENST00000324570.5_In_Frame_Del_p.V456del|ATF7IP2_ENST00000543967.1_5'UTR	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						ACAATGATGATGTTATGTTGATT	0.296														25	0.00499201	8e-04	0.0086	5008	,	,		16695	0.001		0.0099	False		,,,				2504	0.0072																0										6,4252		0,6,2123						2.3	1			67	99,8125		1,97,4014	no	coding	ATF7IP2	NM_024997.2		1,103,6137	A1A1,A1R,RR		1.2038,0.1409,0.8412				105,12377				SO:0001651	inframe_deletion	0			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1365_1367delTGT	16.37:g.10565979_10565981delTGT	ENSP00000379808:p.Val456del		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	In_Frame_Del	DEL	superfamily_Fibronectin_type3	p.V456in_frame_del	ENST00000396560.2	37	c.1365_1367	CCDS10540.1	16																																																																																			ATF7IP2	-	NULL	ENSG00000166669		0.296	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	HGNC	protein_coding	OTTHUMT00000251961.1		0	13	0	TGT	NM_024997		10565981	1	tier1		no_errors	ENST00000356427	ensembl	human	known	74_37	in_frame_del	40.00	12	8	DEL	0.998:0.999:0.999	-	-	10565981	TGT	-	10565979	7	5	136	1	0	1	0	1	0	0	0	0	1089	1461	51	0	1387	0	ATF7IP2	16	10565979	In_Frame_Del	DEL	TGT	TCGA-M9-A5M8-01A-11D-A28B-09	8405729	10565979	79788774	66	34881											
PDP2	57546	genome.wustl.edu	37	chr16	66919132	66919132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgcctggaaccaggcCgagctgtcccggctaaagag	11	5	12	13	2	0	1	0	0	0	1	1	3	1	2	4	3	3	2	4	3	4	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr16:66919132C>T	ENST00000311765.2	+	2	1279	c.945C>T	c.(943-945)gcC>gcT	p.A315A	RP11-61A14.2_ENST00000561475.1_lincRNA|PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	315					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GGAACCAGGCCGAGCTGTCCC	0.587																																																	0													68	63	65					16																	66919132		2200	4300	6500	SO:0001819	synonymous_variant	0			AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	30263	protein-coding gene	gene with protein product	"protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.945C>T	16.37:g.66919132C>T			A8K924	Silent	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.A315	ENST00000311765.2	37	c.945	CCDS10822.1	16																																																																																			PDP2	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000172840		0.587	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDP2	HGNC	protein_coding	OTTHUMT00000268831.2	-	0	32	0	C	NM_020786		66919132	1	tier1	-	no_errors	ENST00000311765	ensembl	human	known	74_37	silent	31.58	39	18	SNP	0.001	T	T	66919132	C	T	66919132	2	4	136	1	0	0	0	0	0	0	0	1	11725	639	23	1		1	PDP2	16	66919132	Silent	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	56353153	66919132	23435621	67	34882											
TP53	7157	genome.wustl.edu	37	chr17	7577144	7577146	+	In_Frame_Del	DEL	AGT	AGT	-																															cctcaaagctgttccgtcccAgtagattaccactactcagg																										TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	AGT	AGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:7577144_7577146delAGT	ENST00000269305.4	-	8	981_983	c.792_794delACT	c.(790-795)ctactg>ctg	p.264_265LL>L	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Del_p.264_265LL>L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_In_Frame_Del_p.264_265LL>L|TP53_ENST00000359597.4_In_Frame_Del_p.264_265LL>L|TP53_ENST00000420246.2_In_Frame_Del_p.264_265LL>L	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	264	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> I (in sporadic cancers; somatic mutation).|L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> Q (in a sporadic cancer; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L265P(15)|p.0?(8)|p.L265R(5)|p.L264del(4)|p.?(4)|p.L265M(4)|p.L265fs*80(3)|p.G262_F270delGNLLGRNSF(2)|p.L265del(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.264_265insSSGNL(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.L265fs*81(1)|p.G262fs*2(1)|p.L265L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(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)	GTTCCGTCCCAGTAGATTACCAC	0.517		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	58	Substitution - Missense(25)|Deletion - In frame(12)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(4)|Insertion - Frameshift(1)|Insertion - In frame(1)|Substitution - coding silent(1)	large_intestine(7)|breast(7)|oesophagus(6)|ovary(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|cervix(2)|stomach(2)|biliary_tract(2)|urinary_tract(2)|small_intestine(1)|liver(1)|skin(1)|eye(1)|pancreas(1)	GRCh37	CD004355|CM971505	TP53	D|M																																				SO:0001651	inframe_deletion	0	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.792_794delACT	17.37:g.7577144_7577146delAGT	ENSP00000269305:p.Leu265del		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L265in_frame_del	ENST00000269305.4	37	c.794_792	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	26	0	AGT	NM_000546		7577146	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	31.82	15	7	DEL	1.000:0.980:0.433	-	-	7577146	AGT	-	7577144	7	5	136	1	0	1	0	1	0	0	0	0	16429	188	7	0	492	0	TP53	17	7577144	In_Frame_Del	DEL	AGT	TCGA-M9-A5M8-01A-11D-A28B-09		7577144	73618066	68	34883											
TOP2A	7153	genome.wustl.edu	37	chr17	38562642	38562642	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactcaaacctaccaggctGatagcagcatcatcttcagg	13	8	7	13	0	4	1	3	1	1	0	4	1	4	1	2	2	5	3	2	2	4	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:38562642G>A	ENST00000423485.1	-	16	2105	c.1947C>T	c.(1945-1947)atC>atT	p.I649I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	649					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)	CTACCAGGCTGATAGCAGCAT	0.353																																																	0													90	81	84					17																	38562642		1836	4085	5921	SO:0001819	synonymous_variant	0				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.1947C>T	17.37:g.38562642G>A			B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.I649	ENST00000423485.1	37	c.1947	CCDS45672.1	17																																																																																			TOP2A	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA	ENSG00000131747		0.353	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0	27	0	G			38562642	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	silent	45.65	50	42	SNP	1.000	A	A	38562642	G	A	38562642	2	1	136	1	0	0	0	0	0	0	0	1	16413	1280	45	3		3	TOP2A	17	38562642	Silent	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	30985498	38562642	42632568	69	34884			1	37		5	5	458	G		2.195531e-13
TOP2A	7153	genome.wustl.edu	37	chr17	38562681	38562681	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaccagaatatttgaactgGatacgatgtcttttcatatc	12	14	8	7	1	2	2	1	1	1	1	3	5	2	4	1	2	2	0	1	2	5	6			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:38562681G>A	ENST00000423485.1	-	16	2066	c.1908C>T	c.(1906-1908)atC>atT	p.I636I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	636					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)	ATTTGAACTGGATACGATGTC	0.348																																																	0													116	107	110					17																	38562681		1847	4089	5936	SO:0001819	synonymous_variant	0				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.1908C>T	17.37:g.38562681G>A			B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.I636	ENST00000423485.1	37	c.1908	CCDS45672.1	17																																																																																			TOP2A	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA	ENSG00000131747		0.348	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0	37	0	G			38562681	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	silent	49.56	57	56	SNP	0.147	A	A	38562681	G	A	38562681	2	1	136	1	0	0	0	0	0	0	0	1	16413	1164	41	3		3	TOP2A	17	38562681	Silent	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	39	38562681	42632529	70	34885			1	37		5	5	458	G		2.195531e-13
TOP2A	7153	genome.wustl.edu	37	chr17	38562866	38562866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgactttccattttttatGatttggagtagaactcttcc	8	20	6	7	0	1	3	0	2	1	1	3	4	3	4	2	1	1	1	2	1	3	8			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:38562866G>A	ENST00000423485.1	-	15	1971	c.1813C>T	c.(1813-1815)Cat>Tat	p.H605Y		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	605					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)	CATTTTTTATGATTTGGAGTA	0.323																																																	0													127	119	122					17																	38562866		1795	4071	5866	SO:0001583	missense	0				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.1813C>T	17.37:g.38562866G>A	ENSP00000411532:p.His605Tyr		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.H605Y	ENST00000423485.1	37	c.1813	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.637736	0.00799	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.22539	1.95	5.51	3.52	0.40303	DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.192062	0.53938	N	0.000042	T	0.09774	0.0240	N	0.11927	0.2	0.28767	N	0.900563	B	0.02656	0.0	B	0.08055	0.003	T	0.35450	-0.9788	10	0.02654	T	1	.	11.5457	0.50693	0.2562:0.0:0.7438:0.0	.	605	P11388	TOP2A_HUMAN	Y	605;685;628;641	ENSP00000411532:H605Y	ENSP00000269577:H685Y	H	-	1	0	TOP2A	35816392	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	2.486000	0.45259	0.402000	0.25451	-1.847000	0.00572	CAT	TOP2A	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA	ENSG00000131747		0.323	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0	42	0	G			38562866	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	missense	50.45	55	56	SNP	1.000	A	A	38562866	G	A	38562866	3	1	136	1	0	0	0	0	1	0	0	0	16413	1290	45	3	2866	3	TOP2A	17	38562866	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	185	38562866	42632344	71	34886			1	37		5	5	458	G		2.195531e-13
TOP2A	7153	genome.wustl.edu	37	chr17	38562902	38562902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttccactcttcaaattcagGaaggctgtaaaatgccattt	12	13	6	10	0	3	0	2	0	1	0	4	1	4	1	2	2	1	2	2	2	4	5			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:38562902G>A	ENST00000423485.1	-	15	1935	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	593					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)	TCAAATTCAGGAAGGCTGTAA	0.353																																																	0													134	128	130					17																	38562902		1806	4071	5877	SO:0001583	missense	0				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.1777C>T	17.37:g.38562902G>A	ENSP00000411532:p.Pro593Ser		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.P593S	ENST00000423485.1	37	c.1777	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447071	0.43429	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.23754	1.89	5.51	5.51	0.81932	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.050009	0.85682	D	0.000000	T	0.43366	0.1244	M	0.82823	2.61	0.80722	D	1	P	0.42203	0.773	B	0.44108	0.441	T	0.48375	-0.9041	10	0.62326	D	0.03	.	19.7791	0.96410	0.0:0.0:1.0:0.0	.	593	P11388	TOP2A_HUMAN	S	593;673;616;629	ENSP00000411532:P593S	ENSP00000269577:P673S	P	-	1	0	TOP2A	35816428	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	9.779000	0.99018	2.763000	0.94921	0.650000	0.86243	CCT	TOP2A	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA	ENSG00000131747		0.353	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0	29	0	G			38562902	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	missense	46.32	51	44	SNP	1.000	A	A	38562902	G	A	38562902	3	1	136	1	0	0	0	0	1	0	0	0	16413	1174	41	3	2902	3	TOP2A	17	38562902	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	36	38562902	42632308	72	34887			1	37		5	5	458	G		2.195531e-13
TOP2A	7153	genome.wustl.edu	37	chr17	38563099	38563099	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtacctttacaatgggagtGataaattcctccagaaaacg	14	10	8	9	2	0	2	0	1	0	1	2	3	2	3	3	1	3	1	3	1	7	5			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:38563099G>A	ENST00000423485.1	-	14	1880	c.1722C>T	c.(1720-1722)atC>atT	p.I574I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	574					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)	CAATGGGAGTGATAAATTCCT	0.413																																																	0													56	52	54					17																	38563099		1870	4111	5981	SO:0001819	synonymous_variant	0				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.1722C>T	17.37:g.38563099G>A			B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.I574	ENST00000423485.1	37	c.1722	CCDS45672.1	17																																																																																			TOP2A	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA,prints_TopoII_euk,prints_Topo_IIA	ENSG00000131747		0.413	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0	39	0	G			38563099	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	silent	44.29	39	31	SNP	1.000	A	A	38563099	G	A	38563099	2	1	136	1	0	0	0	0	0	0	0	1	16413	1280	45	3		3	TOP2A	17	38563099	Silent	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	197	38563099	42632111	73	34888			1	37		5	5	458	G		2.195531e-13
KRTAP4-7	100132476	genome.wustl.edu	37	chr17	39240566	39240566	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtcagaccacctgttgcagGaccacctgctaccgccccag	8	7	9	17	1	1	1	1	0	0	1	1	2	1	2	7	1	3	3	7	1	1	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:39240566G>A	ENST00000391417.4	+	1	108	c.108G>A	c.(106-108)agG>agA	p.R36R		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	36	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				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						CCTGTTGCAGGACCACCTGCT	0.652																																																	0													15	24	21					17																	39240566		691	1591	2282	SO:0001819	synonymous_variant	0			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.108G>A	17.37:g.39240566G>A			A0AVM6|A8MQ08|A8MTL4	Silent	SNP	pfam_Keratin-assoc	p.R36	ENST00000391417.4	37	c.108	CCDS45673.1	17																																																																																			KRTAP4-7	-	pfam_Keratin-assoc	ENSG00000240871		0.652	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	HGNC	protein_coding	OTTHUMT00000257686.1	-	0	202	0	G			39240566	1	tier1	-	no_errors	ENST00000391417	ensembl	human	known	74_37	silent	8.04	755	66	SNP	0.229	A	A	39240566	G	A	39240566	2	1	136	1	0	0	0	0	0	0	0	1	8583	1165	41	3		3	KRTAP4-7	17	39240566	Silent	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	677467	39240566	41954644	74	34889			2	38	677467	2	2	29	G		9.315798e-05
KRTAP4-7	100132476	genome.wustl.edu	37	chr17	39240594	39240594	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	gctaccgccccagctgttgtGtgtccagctgctgcaggccc	4	9	12	16	1	0	0	0	0	0	0	1	0	1	0	5	1	5	6	5	1	1	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:39240594G>C	ENST00000391417.4	+	1	136	c.136G>C	c.(136-138)Gtg>Ctg	p.V46L		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	46	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				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						CAGCTGTTGTGTGTCCAGCTG	0.657																																																	0													12	22	19					17																	39240594		684	1589	2273	SO:0001583	missense	0			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.136G>C	17.37:g.39240594G>C	ENSP00000375236:p.Val46Leu		A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	pfam_Keratin-assoc	p.V46L	ENST00000391417.4	37	c.136	CCDS45673.1	17	.	.	.	.	.	.	.	.	.	.	.	7.833	0.720198	0.15372	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01414	4.92	3.69	1.62	0.23740	.	2.106750	0.04557	U	0.390917	T	0.01387	0.0045	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.17098	0.017	T	0.49466	-0.8937	9	0.27082	T	0.32	.	7.4766	0.27380	0.229:0.0:0.771:0.0	.	46	Q9BYR0	KRA47_HUMAN	L	46	ENSP00000375236:V46L	ENSP00000375236:V46L	V	+	1	0	KRTAP4-9;KRTAP4-7	36494120	0.047000	0.20315	0.029000	0.17559	0.435000	0.31806	-0.492000	0.06467	0.159000	0.19401	0.305000	0.20034	GTG	KRTAP4-7	-	pfam_Keratin-assoc	ENSG00000240871		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	HGNC	protein_coding	OTTHUMT00000257686.1	-	0	220	0	G			39240594	1	tier1	-	no_errors	ENST00000391417	ensembl	human	known	74_37	missense	7.92	848	73	SNP	0.050	C	C	39240594	G	C	39240594	3	2	136	1	0	0	0	0	1	0	0	0	8583	1377	48	5	138	5	KRTAP4-7	17	39240594	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	28	39240594	41954616	75	34890			2	38	677467	2	2	29	G		9.315798e-05
KRTAP9-2	83899	genome.wustl.edu	37	chr17	39382934	39382934	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgttgctccccttgctgtCagcctacctgctgcaggacc	5	11	9	16	0	1	0	1	0	0	0	2	1	2	1	5	1	6	5	5	1	1	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:39382934C>T	ENST00000377721.3	+	1	35	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	KRTAP9-2_ENST00000455970.2_Nonsense_Mutation_p.Q10*	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	10	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCTTGCTGTCAGCCTACCTG	0.617																																																	0													96	100	99					17																	39382934		2203	4300	6503	SO:0001587	stop_gained	0			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.28C>T	17.37:g.39382934C>T	ENSP00000366950:p.Gln10*		Q17RK8|Q2TB15|Q6ISF6	Nonsense_Mutation	SNP	NULL	p.Q10*	ENST00000377721.3	37	c.28	CCDS32651.1	17	.	.	.	.	.	.	.	.	.	.	.	15.30	2.792650	0.50102	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	.	.	.	3.07	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	9.9192	0.41453	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000366950:Q10X	Q	+	1	0	KRTAP9-2	36636460	0.015000	0.18098	1.000000	0.80357	0.672000	0.39443	0.361000	0.20267	2.024000	0.59613	0.552000	0.68991	CAG	KRTAP9-2	-	NULL	ENSG00000239886		0.617	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRTAP9-2	HGNC	protein_coding	OTTHUMT00000257717.1	-	0	271	0	C			39382934	1	tier1	-	no_errors	ENST00000377721	ensembl	human	known	74_37	nonsense	6.52	946	66	SNP	0.983	T	T	39382934	C	T	39382934	4	4	136	1	0	0	0	0	0	1	0	0	8601	827	29	3	30	3	KRTAP9-2	17	39382934	Nonsense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	142340	39382934	41812276	76	34891											
KRTAP9-9	81870	genome.wustl.edu	37	chr17	39411665	39411665	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgttgctccccttgctgtCagcctacctgctgcaggacc	5	11	9	16	0	1	0	1	0	0	0	2	1	2	1	5	1	6	5	5	1	1	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:39411665C>T	ENST00000394008.1	+	1	30	c.28C>T	c.(28-30)Cag>Tag	p.Q10*		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	10	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)			CCCTTGCTGTCAGCCTACCTG	0.597																																																	0																																										SO:0001587	stop_gained	0			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.28C>T	17.37:g.39411665C>T	ENSP00000377576:p.Gln10*		B5MDD6|Q9BYQ1	Nonsense_Mutation	SNP	NULL	p.Q10*	ENST00000394008.1	37	c.28	CCDS54127.1	17	.	.	.	.	.	.	.	.	.	.	.	13.50	2.256531	0.39896	.	.	ENSG00000198083	ENST00000394008	.	.	.	2.72	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	9.1755	0.37109	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000377576:Q10X	Q	+	1	0	KRTAP9-9	36665191	0.000000	0.05858	0.996000	0.52242	0.483000	0.33249	-0.789000	0.04609	1.834000	0.53371	0.456000	0.33151	CAG	KRTAP9-9	-	NULL	ENSG00000198083		0.597	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-9	HGNC	protein_coding	OTTHUMT00000257710.1	-	0	91	0	C	NM_030975		39411665	1	tier1	-	no_errors	ENST00000394008	ensembl	human	known	74_37	nonsense	16.37	235	46	SNP	0.858	T	T	39411665	C	T	39411665	4	4	136	1	0	0	0	0	0	1	0	0	8605	827	29	3	30	3	KRTAP9-9	17	39411665	Nonsense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	28731	39411665	41783545	77	34892			3	39	171071	3	3	293	C		4.700343e-07
KRTAP9-9	81870	genome.wustl.edu	37	chr17	39411794	39411794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccgcccagcttgctgtCaaaacacctgctgcaggacc	8	7	10	16	1	1	0	1	0	0	0	1	1	1	1	4	1	6	5	4	1	2	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:39411794C>G	ENST00000394008.1	+	1	159	c.157C>G	c.(157-159)Caa>Gaa	p.Q53E		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	58	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)			AGCTTGCTGTCAAAACACCTG	0.642																																																	0																																										SO:0001583	missense	0			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.157C>G	17.37:g.39411794C>G	ENSP00000377576:p.Gln53Glu		B5MDD6|Q9BYQ1	Missense_Mutation	SNP	NULL	p.Q53E	ENST00000394008.1	37	c.157	CCDS54127.1	17	.	.	.	.	.	.	.	.	.	.	.	13.04	2.118857	0.37436	.	.	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.01422	4.91	3.64	2.61	0.31194	.	.	.	.	.	T	0.02119	0.0066	L	0.60845	1.875	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.39800	-0.9596	9	0.27082	T	0.32	.	10.1974	0.43062	0.0:0.5863:0.4136:0.0	.	58	Q9BYP9	KRA99_HUMAN	E	59;53	ENSP00000377576:Q53E	ENSP00000377576:Q53E	Q	+	1	0	KRTAP9-9	36665320	0.426000	0.25506	0.002000	0.10522	0.541000	0.35023	-0.222000	0.09190	0.786000	0.33708	0.456000	0.33151	CAA	KRTAP9-9	-	NULL	ENSG00000198083		0.642	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-9	HGNC	protein_coding	OTTHUMT00000257710.1	-	0	180	0	C	NM_030975		39411794	1	tier1	-	no_errors	ENST00000394008	ensembl	human	known	74_37	missense	19.29	565	135	SNP	0.236	G	G	39411794	C	G	39411794	3	3	136	1	0	0	0	0	1	0	0	0	8605	827	29	5	159	5	KRTAP9-9	17	39411794	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	129	39411794	41783416	78	34893			3	39	171071	3	3	293	C		4.700343e-07
KRTAP9-9	81870	genome.wustl.edu	37	chr17	39411957	39411957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccagagcagctcctgtgCacctgtgtactgcagaagaa	10	8	12	11	0	0	3	0	0	0	3	1	3	1	3	3	1	5	5	3	1	3	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:39411957C>T	ENST00000394008.1	+	1	322	c.320C>T	c.(319-321)gCa>gTa	p.A107V		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	92	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)			AGCTCCTGTGCACCTGTGTAC	0.622																																																	0													112	116	114					17																	39411957		2203	4300	6503	SO:0001583	missense	0			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.320C>T	17.37:g.39411957C>T	ENSP00000377576:p.Ala107Val		B5MDD6|Q9BYQ1	Missense_Mutation	SNP	NULL	p.A107V	ENST00000394008.1	37	c.320	CCDS54127.1	17	.	.	.	.	.	.	.	.	.	.	.	10.79	1.450459	0.26074	.	.	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.01388	4.95	2.74	-3.94	0.04130	.	.	.	.	.	T	0.00936	0.0031	N	0.20766	0.605	0.09310	N	1	B	0.22604	0.072	B	0.20384	0.029	T	0.47142	-0.9140	9	0.23302	T	0.38	.	4.6681	0.12675	0.1253:0.1883:0.579:0.1073	.	92	Q9BYP9	KRA99_HUMAN	V	113;107	ENSP00000377576:A107V	ENSP00000377576:A107V	A	+	2	0	KRTAP9-9	36665483	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	-1.025000	0.03600	-0.640000	0.05495	0.456000	0.33151	GCA	KRTAP9-9	-	NULL	ENSG00000198083		0.622	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-9	HGNC	protein_coding	OTTHUMT00000257710.1	-	0	154	0	C	NM_030975		39411957	1	tier1	-	no_errors	ENST00000394008	ensembl	human	known	74_37	missense	18.25	448	100	SNP	0.000	T	T	39411957	C	T	39411957	3	4	136	1	0	0	0	0	1	0	0	0	8605	710	25	3	322	3	KRTAP9-9	17	39411957	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	163	39411957	41783253	79	34894			3	39	171071	3	3	293	C		4.700343e-07
WNK4	65266	genome.wustl.edu	37	chr17	40937166	40937166	+	Missense_Mutation	SNP	A	A	T	1	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	agatacccgaggtgaaggagAtcattgaaggctgcatccgc	12	7	13	9	2	1	4	1	2	0	2	2	6	2	4	2	3	2	2	2	3	3	2	rs369420670		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:40937166A>T	ENST00000246914.5	+	5	1243	c.1222A>T	c.(1222-1224)Atc>Ttc	p.I408F		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	408	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGTGAAGGAGATCATTGAAGG	0.617																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0								A	PHE/ILE	0,4406		0,0,2203	71	67	68		1222	5.1	1	17		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	WNK4	NM_032387.4	21	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	probably-damaging	408/1244	40937166	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1222A>T	17.37:g.40937166A>T	ENSP00000246914:p.Ile408Phe		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I408F	ENST00000246914.5	37	c.1222	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607589	0.87157	0.0	1.16E-4	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.64260	-0.09	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	0.49305	D	0.000150	T	0.48943	0.1528	N	0.01152	-0.98	0.54753	D	0.999983	D;D	0.52996	0.957;0.957	P;P	0.56042	0.79;0.79	T	0.68364	-0.5428	10	0.87932	D	0	-16.346	14.6023	0.68450	1.0:0.0:0.0:0.0	.	408;408	B0LPI0;Q96J92	.;WNK4_HUMAN	F	408;180	ENSP00000246914:I408F	ENSP00000246914:I408F	I	+	1	0	WNK4	38190692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.331000	0.96430	1.924000	0.55735	0.454000	0.30748	ATC	WNK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000126562		0.617	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	-	0	72	0	A			40937166	1	tier1	-	no_errors	ENST00000246914	ensembl	human	known	74_37	missense	19.47	91	22	SNP	1.000	T	T	40937166	A	T	40937166	3	4	136	1	0	0	0	0	1	0	0	0	17429	333	12	5	1240	5	WNK4	17	40937166	Missense_Mutation	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09	1525209	40937166	40258044	80	34895											
CCDC40	55036	genome.wustl.edu	37	chr17	78032414	78032414	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaaagaaggccgagacGgagaggatccgggcagaaat	14	4	17	6	3	0	4	0	0	0	4	1	7	1	5	2	5	0	2	2	5	4	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:78032414G>T	ENST00000397545.4	+	8	1308	c.1281G>T	c.(1279-1281)acG>acT	p.T427T	CCDC40_ENST00000269318.5_Silent_p.T427T|CCDC40_ENST00000374876.4_Silent_p.T427T|CCDC40_ENST00000374877.3_Silent_p.T427T	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	427					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCCGAGACGGAGAGGATCC	0.502																																																	0													62	67	66					17																	78032414		2072	4201	6273	SO:0001819	synonymous_variant	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1281G>T	17.37:g.78032414G>T			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	pfam_E3_ubiquit_lig_BRE1	p.T427	ENST00000397545.4	37	c.1281	CCDS42395.1	17																																																																																			CCDC40	-	NULL	ENSG00000141519		0.502	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	-	0	46	0	G	XM_371082		78032414	1	tier1	-	no_errors	ENST00000397545	ensembl	human	known	74_37	silent	32.14	38	18	SNP	0.002	T	T	78032414	G	T	78032414	2	4	136	1	0	0	0	0	0	0	0	1	2819	1103	39	2		2	CCDC40	17	78032414	Silent	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	37095248	78032414	3162796	81	34896											
RNMT	8731	genome.wustl.edu	37	chr18	13740208	13740208	+	Missense_Mutation	SNP	A	A	T	1	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	acagtgtcagcagcggtatgAggacatgaaaaatcgtcgtg	13	8	13	7	3	1	2	1	2	0	0	3	3	1	3	0	2	2	2	0	2	3	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr18:13740208A>T	ENST00000383314.2	+	6	962	c.722A>T	c.(721-723)gAg>gTg	p.E241V	RNMT_ENST00000543302.2_Missense_Mutation_p.E241V|RNMT_ENST00000592764.1_Missense_Mutation_p.E241V|RNMT_ENST00000535051.1_De_novo_Start_OutOfFrame|RNMT_ENST00000589866.1_Missense_Mutation_p.E241V|RNMT_ENST00000262173.3_Missense_Mutation_p.E241V			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	241	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)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						CAGCGGTATGAGGACATGAAA	0.373																																					GBM(29;474 594 19092 36647 41529)												0													115	105	108					18																	13740208		2203	4300	6503	SO:0001583	missense	0			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.722A>T	18.37:g.13740208A>T	ENSP00000372804:p.Glu241Val		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	p.E241V	ENST00000383314.2	37	c.722	CCDS11867.1	18	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180601	0.57800	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000544744;ENST00000262173	.	.	.	5.76	3.42	0.39159	.	0.609015	0.19022	N	0.124793	T	0.56673	0.2001	M	0.66297	2.02	0.80722	D	1	P;P	0.36909	0.529;0.573	B;B	0.40982	0.311;0.345	T	0.54879	-0.8227	9	0.40728	T	0.16	-24.7506	9.5006	0.39015	0.7431:0.1513:0.0:0.1057	.	241;241	O43148-2;O43148	.;MCES_HUMAN	V	241;241;63;241	.	ENSP00000262173:E241V	E	+	2	0	RNMT	13730208	0.928000	0.31464	1.000000	0.80357	0.997000	0.91878	2.602000	0.46257	0.968000	0.38212	0.533000	0.62120	GAG	RNMT	-	pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	ENSG00000101654		0.373	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMT	HGNC	protein_coding	OTTHUMT00000254636.1	-	0	24	0	A	NM_003799		13740208	1	tier1	-	no_errors	ENST00000262173	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.881	T	T	13740208	A	T	13740208	3	4	136	1	0	0	0	0	1	0	0	0	13551	304	11	5	736	5	RNMT	18	13740208	Missense_Mutation	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09		13740208	64337040	82	34897											
PIAS2	9063	genome.wustl.edu	37	chr18	44424026	44424026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttacttacagggcacatCaaggatacccgaaggctagt	12	9	10	10	1	1	0	1	0	0	0	1	2	1	1	1	3	3	3	1	3	6	5			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr18:44424026C>T	ENST00000585916.1	-	8	1031	c.1032G>A	c.(1030-1032)ttG>ttA	p.L344L	PIAS2_ENST00000324794.7_Silent_p.L344L|PIAS2_ENST00000545673.1_Silent_p.L54L	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	344					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						CAGGGCACATCAAGGATACCC	0.289																																																	0													101	110	107					18																	44424026		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1032G>A	18.37:g.44424026C>T			O75927|Q96BT5|Q96KE3	Silent	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.L344	ENST00000585916.1	37	c.1032	CCDS32824.1	18																																																																																			PIAS2	-	pfam_Znf_MIZ,pfscan_Znf_MIZ	ENSG00000078043		0.289	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS2	HGNC	protein_coding	OTTHUMT00000445656.2	-	0	71	0	C	NM_004671		44424026	-1	tier1	-	no_errors	ENST00000585916	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	T	T	44424026	C	T	44424026	2	4	136	1	0	0	0	0	0	0	0	1	11915	825	29	3		3	PIAS2	18	44424026	Silent	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	30683818	44424026	33653222	83	34898											
TMPRSS9	360200	genome.wustl.edu	37	chr19	2425009	2425009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgccccgcagctacggggaCcccaagcagtgggcggcctt	6	4	15	16	4	0	0	0	0	0	0	0	1	0	1	5	4	3	3	5	4	2	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:2425009C>G	ENST00000332578.3	+	15	2625	c.2625C>G	c.(2623-2625)gaC>gaG	p.D875E		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	875	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)		GCTACGGGGACCCCAAGCAGT	0.751																																																	0													5	5	5					19																	2425009		2072	4081	6153	SO:0001583	missense	0			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.2625C>G	19.37:g.2425009C>G	ENSP00000330264:p.Asp875Glu		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.D875E	ENST00000332578.3	37	c.2625	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264340	0.80358	.	.	ENSG00000178297	ENST00000332578	D	0.93019	-3.15	4.14	4.14	0.48551	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.52532	D	0.000073	D	0.94185	0.8134	L	0.33245	0.995	0.41129	D	0.985871	D	0.76494	0.999	D	0.81914	0.995	D	0.95066	0.8200	10	0.66056	D	0.02	.	14.989	0.71371	0.0:1.0:0.0:0.0	.	875	Q7Z410	TMPS9_HUMAN	E	875	ENSP00000330264:D875E	ENSP00000330264:D875E	D	+	3	2	TMPRSS9	2376009	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.382000	0.34374	1.867000	0.54127	0.561000	0.74099	GAC	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178297		0.751	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3		0	15	0	C	NM_182973		2425009	1			no_errors	ENST00000332578	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	G	G	2425009	C	G	2425009	3	3	136	1	0	0	0	0	1	0	0	0	16300	506	18	5	2683	5	TMPRSS9	19	2425009	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09		2425009	56703974	84	34899											
PLIN4	729359	genome.wustl.edu	37	chr19	4510468	4510468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctcaccttgctcctcCgcattcatggggtggaagat	6	11	10	14	1	2	1	2	0	0	1	5	2	5	2	5	3	1	2	5	3	1	2	rs375540587		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:4510468C>T	ENST00000301286.3	-	3	3461	c.3462G>A	c.(3460-3462)gcG>gcA	p.A1154A		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1154						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						CTTGCTCCTCCGCATTCATGG	0.572																																																	0								C		1,4061		0,1,2030	40	45	43		3462	-7.8	0	19		43	0,8352		0,0,4176	no	coding-synonymous	PLIN4	NM_001080400.1		0,1,6206	TT,TC,CC		0.0,0.0246,0.0081		1154/1358	4510468	1,12413	2031	4176	6207	SO:0001819	synonymous_variant	0			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.3462G>A	19.37:g.4510468C>T			A6NEI2	Silent	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.A1154	ENST00000301286.3	37	c.3462	CCDS45927.1	19																																																																																			PLIN4	-	pfam_Perilipin	ENSG00000167676		0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	-	0	79	0	C	XM_170901		4510468	-1	tier1	-	no_errors	ENST00000301286	ensembl	human	novel	74_37	silent	22.99	67	20	SNP	0.000	T	T	4510468	C	T	4510468	2	4	136	1	0	0	0	0	0	0	0	1	12131	639	23	1		1	PLIN4	19	4510468	Silent	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	2085459	4510468	54618515	85	34900											
LRG1	116844	genome.wustl.edu	37	chr19	4538512	4538512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccccagagctttcaggcCgtgtagccacgagacctcca	9	7	10	15	2	1	2	1	0	0	2	2	3	2	2	6	1	3	2	6	1	1	2	rs142551012		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:4538512C>T	ENST00000306390.6	-	2	944	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	162					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTTCAGGCCGTGTAGCCAC	0.652																																																	0													54	61	58					19																	4538512		2203	4300	6503	SO:0001583	missense	0				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.484G>A	19.37:g.4538512C>T	ENSP00000302621:p.Gly162Ser		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G162S	ENST00000306390.6	37	c.484	CCDS12130.1	19	.	.	.	.	.	.	.	.	.	.	.	6.142	0.394429	0.11638	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.61510	0.1	4.71	3.66	0.41972	.	0.000000	0.41712	D	0.000835	T	0.41604	0.1166	L	0.38531	1.155	0.09310	N	1	P	0.45902	0.868	B	0.37833	0.259	T	0.26326	-1.0106	10	0.32370	T	0.25	-35.3396	9.0394	0.36307	0.0:0.8977:0.0:0.1023	.	162	P02750	A2GL_HUMAN	S	162;145	ENSP00000302621:G162S	ENSP00000302621:G162S	G	-	1	0	LRG1	4489512	0.000000	0.05858	0.193000	0.23327	0.016000	0.09150	0.459000	0.21908	1.196000	0.43129	0.655000	0.94253	GGC	LRG1	-	NULL	ENSG00000171236		0.652	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	-	0	51	0	C	NM_052972		4538512	-1	tier1	-	no_errors	ENST00000306390	ensembl	human	known	74_37	missense	26.88	68	25	SNP	0.088	T	T	4538512	C	T	4538512	3	4	136	1	0	0	0	0	1	0	0	0	8977	652	23	1	563	1	LRG1	19	4538512	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	28044	4538512	54590471	86	34901											
MUC16	94025	genome.wustl.edu	37	chr19	9063581	9063581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcatccatgatacatcCtcaggacccctcctcataag	10	9	7	15	0	3	1	3	1	0	0	6	2	6	2	5	2	1	1	5	2	2	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:9063581C>T	ENST00000397910.4	-	3	24068	c.23865G>A	c.(23863-23865)gaG>gaA	p.E7955E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7957	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						ATGATACATCCTCAGGACCCC	0.463																																																	0													130	122	125					19																	9063581		1977	4159	6136	SO:0001819	synonymous_variant	0			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.23865G>A	19.37:g.9063581C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.E7955	ENST00000397910.4	37	c.23865	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	79	0	C	NM_024690		9063581	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	29.91	75	32	SNP	0.000	T	T	9063581	C	T	9063581	2	4	136	1	0	0	0	0	0	0	0	1	10011	680	24	3		3	MUC16	19	9063581	Silent	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	4525069	9063581	50065402	87	34902											
CILP2	148113	genome.wustl.edu	37	chr19	19654085	19654085	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	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	atgggaccctgctggacaggCgagctcatgggtacggggcc	7	6	17	11	2	1	0	1	0	0	0	1	3	1	2	2	6	3	3	2	6	1	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:19654085C>T	ENST00000291495.5	+	7	1091	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	CILP2_ENST00000586018.1_Nonsense_Mutation_p.R342*	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	336	Ig-like C2-type.					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						GCTGGACAGGCGAGCTCATGG	0.662																																																	0													39	45	43					19																	19654085		2203	4300	6503	SO:0001587	stop_gained	0			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.1006C>T	19.37:g.19654085C>T	ENSP00000291495:p.Arg336*		Q6NV88|Q8N4A6|Q8WV21	Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R336*	ENST00000291495.5	37	c.1006	CCDS12405.1	19	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847967	0.91277	.	.	ENSG00000160161	ENST00000291495	.	.	.	4.79	3.75	0.43078	.	0.265665	0.35615	N	0.003087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-11.9275	10.6243	0.45497	0.3304:0.6696:0.0:0.0	.	.	.	.	X	336	.	ENSP00000291495:R336X	R	+	1	2	CILP2	19515085	0.000000	0.05858	0.892000	0.35008	0.475000	0.33008	0.526000	0.22971	0.963000	0.38082	0.485000	0.47835	CGA	CILP2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160161		0.662	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	-	0	69	0	C	NM_153221		19654085	1	tier1	-	no_errors	ENST00000291495	ensembl	human	known	74_37	nonsense	22.92	73	22	SNP	0.464	T	T	19654085	C	T	19654085	4	4	136	1	0	0	0	0	0	1	0	0	3437	760	27	1	1032	1	CILP2	19	19654085	Nonsense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	10590504	19654085	39474898	88	34903											
HIF3A	64344	genome.wustl.edu	37	chr19	46825047	46825047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagacacccctggccccCggatccttgccttcctgcac	5	8	8	20	1	0	1	0	0	0	1	2	2	2	2	7	2	3	2	7	2	0	2	rs145421578		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:46825047C>T	ENST00000377670.4	+	10	1190	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.R318W|HIF3A_ENST00000600383.1_Missense_Mutation_p.R318W|HIF3A_ENST00000339613.2_Missense_Mutation_p.R331W|HIF3A_ENST00000472815.1_Missense_Mutation_p.R318W|HIF3A_ENST00000420102.2_Missense_Mutation_p.R336W|HIF3A_ENST00000300862.3_Missense_Mutation_p.R385W	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	387					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCTGGCCCCCGGATCCTTGC	0.682																																																	0								C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	55	67	63		952,1153,1159,952	3.3	1	19	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	HIF3A	NM_022462.4,NM_152794.3,NM_152795.3,NM_152796.2	101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	318/601,385/668,387/670,318/451	46825047	1,13005	2203	4300	6503	SO:0001583	missense	0			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1159C>T	19.37:g.46825047C>T	ENSP00000366898:p.Arg387Trp		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.R387W	ENST00000377670.4	37	c.1159	CCDS12681.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.79|10.79	1.450480|1.450480	0.26074|0.26074	0.0|0.0	1.16E-4|1.16E-4	ENSG00000124440|ENSG00000124440	ENST00000472815|ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	.|T;T;T;T;T	.|0.66995	.|0.49;-0.23;0.37;0.49;-0.24	4.43|4.43	3.32|3.32	0.38043|0.38043	.|.	.|1.992350	.|0.02375	.|N	.|0.078257	T|T	0.66436|0.66436	0.2789|0.2789	N|N	0.24115|0.24115	0.695|0.695	0.29837|0.29837	N|N	0.829522|0.829522	.|B;D;B;B;B;B;D	.|0.76494	.|0.033;0.999;0.004;0.013;0.003;0.003;0.995	.|B;P;B;B;B;B;P	.|0.53146	.|0.005;0.719;0.002;0.003;0.001;0.001;0.535	T|T	0.61525|0.61525	-0.7045|-0.7045	6|10	0.66056|0.66056	D|D	0.02|0.02	.|.	9.1512|9.1512	0.36965|0.36965	0.2172:0.7828:0.0:0.0|0.2172:0.7828:0.0:0.0	.|.	.|336;318;385;336;331;387;387	.|F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.|.;.;.;.;.;HIF3A_HUMAN;.	L|W	359|387;387;318;331;331;385;336	.|ENSP00000366898:R387W;ENSP00000244303:R318W;ENSP00000341877:R331W;ENSP00000300862:R385W;ENSP00000407771:R336W	ENSP00000434653:P359L|ENSP00000244302:R387W	P|R	+|+	2|1	0|2	HIF3A|HIF3A	51516887|51516887	0.835000|0.835000	0.29415|0.29415	1.000000|1.000000	0.80357|0.80357	0.289000|0.289000	0.27227|0.27227	0.829000|0.829000	0.27449|0.27449	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	CCG|CGG	HIF3A	-	NULL	ENSG00000124440		0.682	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	HGNC	protein_coding	OTTHUMT00000280556.3	-	0	64	0	C			46825047	1	tier1	rs145421578	no_errors	ENST00000377670	ensembl	human	known	74_37	missense	36.00	64	36	SNP	0.999	T	T	46825047	C	T	46825047	3	4	136	1	0	0	0	0	1	0	0	0	7132	643	23	1	1221	1	HIF3A	19	46825047	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	27170962	46825047	12303936	89	34904											
SPIB	6689	genome.wustl.edu	37	chr19	50922242	50922245	+	Splice_Site	DEL	AGTA	AGTA	-																															gctcgccctggaggctgcacAgtaagtgagggcccccaaac																										TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	AGTA	AGTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:50922242_50922245delAGTA	ENST00000595883.1	+	1	48	c.23delAGTA	c.(22-24)cag>cg	p.Q8fs	CTD-2545M3.6_ENST00000599632.1_Intron|SPIB_ENST00000596074.1_Splice_Site_p.Q8fs|SPIB_ENST00000439922.2_5'UTR|SPIB_ENST00000597855.1_Splice_Site_p.Q8fs|SPIB_ENST00000270632.7_Splice_Site_p.Q8fs	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)	8	TAD1 (Acidic).				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)		GAGGCTGCACAGTAAGTGAGGGCC	0.686																																																	0																																										SO:0001630	splice_region_variant	0				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.23+1AGTA>-	19.37:g.50922242_50922245delAGTA			A8K9C9|B4DUG6|Q15359	Frame_Shift_Del	DEL	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.Q8fs	ENST00000595883.1	37	c.23	CCDS33080.1	19																																																																																			SPIB	-	NULL	ENSG00000269404		0.686	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIB	HGNC	protein_coding	OTTHUMT00000464744.1		0	81	0	AGTA	NM_003121	Frame_Shift_Del	50922245	1	tier1		no_errors	ENST00000595883	ensembl	human	known	74_37	frame_shift_del	16.00	63	12	DEL	1.000	-	-	50922245	AGTA	-	50922242	8	5	136	1	0	1	0	1	0	0	1	0	15097	202	7	0	25	0	SPIB	19	50922242	Splice_Site	DEL	AGTA	TCGA-M9-A5M8-01A-11D-A28B-09	4097195	50922242	8206741	90	34905											
ZNF816A	125893	genome.wustl.edu	37	chr19	53453725	53453725	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaggtatgaatcactccGgaaaaccttgtcacaaacct	14	9	7	11	1	2	1	2	1	0	0	3	2	3	2	3	2	3	2	3	2	6	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:53453725G>T	ENST00000357666.4	-	5	1603	c.1303C>A	c.(1303-1305)Cgg>Agg	p.R435R	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.R435R	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAATCACTCCGGAAAACCTTG	0.408																																																	0													119	119	119					19																	53453725		2203	4300	6503	SO:0001819	synonymous_variant	0			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1303C>A	19.37:g.53453725G>T			A8K7H5|Q3KR39|Q659B3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R435	ENST00000357666.4	37	c.1303	CCDS33096.1	19																																																																																			ZNF816	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180257		0.408	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	-	0	108	0	G	NM_001031665		53453725	-1	tier1	-	no_errors	ENST00000357666	ensembl	human	known	74_37	silent	32.84	90	44	SNP	0.017	T	T	53453725	G	T	53453725	2	4	136	1	0	0	0	0	0	0	0	1	18225	1115	39	2		2	ZNF816A	19	53453725	Silent	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	2531483	53453725	5675258	91	34906											
ZNF845	91664	genome.wustl.edu	37	chr19	53856048	53856048	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtcgaaattcagcccttaTaattcacaaggcaattcata	14	11	6	10	2	3	0	3	0	0	0	4	1	3	0	1	2	1	1	1	2	6	6	rs551941244		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:53856048T>A	ENST00000595091.1	+	5	2339	c.2120T>A	c.(2119-2121)aTa>aAa	p.I707K	ZNF845_ENST00000458035.1_Missense_Mutation_p.I707K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	707				Missing (in Ref. 1; BAG58121). {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)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGCCCTTATAATTCACAAG	0.433																																																	0													101	98	98					19																	53856048		692	1591	2283	SO:0001583	missense	0			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.2120T>A	19.37:g.53856048T>A	ENSP00000470005:p.Ile707Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I707K	ENST00000595091.1	37	c.2120	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	T	4.763	0.141826	0.09083	.	.	ENSG00000213799	ENST00000458035	T	0.08282	3.11	2.22	-4.43	0.03568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01870	0.0059	N	0.00960	-1.095	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.37291	-0.9712	9	0.15952	T	0.53	.	2.4666	0.04554	0.1248:0.456:0.2509:0.1684	.	707	Q96IR2	ZN845_HUMAN	K	707	ENSP00000388311:I707K	ENSP00000388311:I707K	I	+	2	0	ZNF845	58547860	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.333000	0.01108	-2.463000	0.00535	-0.467000	0.05162	ATA	ZNF845	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213799		0.433	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	-	0	57	0	T	XM_039908		53856048	1	tier1	-	no_errors	ENST00000458035	ensembl	human	known	74_37	missense	7.89	105	9	SNP	0.000	A	A	53856048	T	A	53856048	3	1	136	1	0	0	0	0	1	0	0	0	18239	1406	49	5	2130	5	ZNF845	19	53856048	Missense_Mutation	SNP	T	TCGA-M9-A5M8-01A-11D-A28B-09	402323	53856048	5272935	92	34907											
ZNF835	90485	genome.wustl.edu	37	chr19	57175697	57175697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtgctgggtcaggtgcgcGatctgcgcgaaggccttggc	4	8	18	11	5	2	0	1	0	1	0	2	2	2	0	1	5	3	1	1	5	1	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:57175697G>A	ENST00000537055.2	-	2	1101	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	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)|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						TCAGGTGCGCGATCTGCGCGA	0.697																																																	0													19	20	19					19																	57175697		2196	4294	6490	SO:0001819	synonymous_variant	0			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.870C>T	19.37:g.57175697G>A			B7Z5Y0|G3V1S0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I290	ENST00000537055.2	37	c.870	CCDS56105.1	19																																																																																			ZNF835	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127903		0.697	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1	-	0	90	0	G	NM_001005850		57175697	-1	tier1	-	no_errors	ENST00000537055	ensembl	human	known	74_37	silent	8.55	107	10	SNP	0.000	A	A	57175697	G	A	57175697	2	1	136	1	0	0	0	0	0	0	0	1	18234	1048	37	1		1	ZNF835	19	57175697	Silent	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	3319649	57175697	1953286	93	34908											
PEG3	5178	genome.wustl.edu	37	chr19	57326178	57326178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattcctctctgcagcacgaTtcctccgtggcttcatgggc	5	12	10	14	2	2	0	1	0	1	0	6	2	5	0	3	2	2	3	3	2	0	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:57326178T>C	ENST00000326441.9	-	10	3995	c.3632A>G	c.(3631-3633)aAt>aGt	p.N1211S	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.N1211S|PEG3_ENST00000593695.1_Missense_Mutation_p.N1085S|PEG3_ENST00000598410.1_Missense_Mutation_p.N1087S|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1211					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)		TGCAGCACGATTCCTCCGTGG	0.488																																																	0													115	111	112					19																	57326178		2203	4300	6503	SO:0001583	missense	0			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.3632A>G	19.37:g.57326178T>C	ENSP00000326581:p.Asn1211Ser		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.N1211S	ENST00000326441.9	37	c.3632	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	T	4.954	0.177131	0.09443	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02737	4.18;4.18	4.06	-2.13	0.07144	.	0.930262	0.08988	N	0.864912	T	0.01870	0.0059	N	0.24115	0.695	.	.	.	B;B;P	0.39665	0.003;0.304;0.682	B;B;B	0.35312	0.002;0.072;0.2	T	0.42632	-0.9440	9	0.56958	D	0.05	-3.7348	3.2133	0.06690	0.1263:0.4649:0.1917:0.2171	.	1087;1211;1146	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	1211	ENSP00000326581:N1211S;ENSP00000403051:N1211S	ENSP00000326581:N1211S	N	-	2	0	ZIM2	62017990	0.000000	0.05858	0.000000	0.03702	0.805000	0.45488	-0.014000	0.12656	-0.408000	0.07565	0.533000	0.62120	AAT	PEG3	-	NULL	ENSG00000198300		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	42	0	T			57326178	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	31.71	28	13	SNP	0.000	C	C	57326178	T	C	57326178	3	2	136	1	0	0	0	0	1	0	0	0	11759	1493	52	4	1138	4	PEG3	19	57326178	Missense_Mutation	SNP	T	TCGA-M9-A5M8-01A-11D-A28B-09	150481	57326178	1802805	94	34909											
SNX5	27131	genome.wustl.edu	37	chr20	17934727	17934727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcatcttctctcgaggaCcatcaaagtcgggcttcgta	8	12	9	12	3	4	0	1	0	3	0	8	2	4	1	1	2	1	3	1	2	2	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr20:17934727C>A	ENST00000377768.3	-	5	614	c.302G>T	c.(301-303)gGt>gTt	p.G101V	SNX5_ENST00000377759.4_Missense_Mutation_p.G101V|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	101	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Phosphatidylinositol bisphosphate binding. {ECO:0000250}.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CTCTCGAGGACCATCAAAGTC	0.488																																																	0													138	132	134					20																	17934727		2203	4300	6503	SO:0001583	missense	0			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"Sorting nexins"	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.302G>T	20.37:g.17934727C>A	ENSP00000366998:p.Gly101Val		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.G101V	ENST00000377768.3	37	c.302	CCDS13130.1	20	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171650	0.57584	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.6	5.6	0.85130	Phox homologous domain (5);	0.128808	0.64402	D	0.000001	T	0.37919	0.1021	L	0.28458	0.855	0.80722	D	1	B;B	0.28026	0.014;0.198	B;B	0.29862	0.041;0.108	T	0.14227	-1.0480	10	0.48119	T	0.1	-5.3103	19.9784	0.97317	0.0:1.0:0.0:0.0	.	122;101	B7Z476;Q9Y5X3	.;SNX5_HUMAN	V	101;101;64;66	ENSP00000366998:G101V;ENSP00000366988:G101V;ENSP00000404448:G64V;ENSP00000406731:G66V	ENSP00000366988:G101V	G	-	2	0	SNX5	17882727	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.774000	0.62339	2.800000	0.96347	0.455000	0.32223	GGT	SNX5	-	pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	ENSG00000089006		0.488	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX5	HGNC	protein_coding	OTTHUMT00000078137.4	-	0	52	0	C			17934727	-1	tier1	-	no_errors	ENST00000377759	ensembl	human	known	74_37	missense	31.17	53	24	SNP	1.000	A	A	17934727	C	A	17934727	3	1	136	1	0	0	0	0	1	0	0	0	14950	507	18	3	952	3	SNX5	20	17934727	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09		17934727	45090793	95	34910											
GRIK1	2897	genome.wustl.edu	37	chr21	31023452	31023452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttactgtcatcatgccatCcaaaaggccagtctcgggcc	10	9	8	14	1	3	0	2	0	1	0	5	0	4	0	4	2	2	0	4	2	3	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr21:31023452C>A	ENST00000399907.1	-	6	1351	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	GRIK1_ENST00000327783.4_Missense_Mutation_p.D314Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.D314Y|GRIK1_ENST00000399913.1_Missense_Mutation_p.D314Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.D314Y|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.D314Y|GRIK1_ENST00000399914.1_Missense_Mutation_p.D314Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.D314Y|GRIK1_ENST00000309434.7_Missense_Mutation_p.D314Y	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	314					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	ATCATGCCATCCAAAAGGCCA	0.438																																																	0													59	57	58					21																	31023452		2203	4300	6503	SO:0001583	missense	0				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.940G>T	21.37:g.31023452C>A	ENSP00000382791:p.Asp314Tyr		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D314Y	ENST00000399907.1	37	c.940	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998335	0.74818	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	4.91	4.02	0.46733	Extracellular ligand-binding receptor (1);	0.155329	0.56097	D	0.000025	D	0.85318	0.5669	M	0.65498	2.005	0.58432	D	0.999993	P;D;B;D;D;P	0.56746	0.953;0.977;0.026;0.977;0.96;0.95	P;P;B;P;P;P	0.59595	0.86;0.86;0.026;0.86;0.789;0.781	T	0.81514	-0.0898	10	0.02654	T	1	.	13.8147	0.63283	0.0:0.9208:0.0:0.0792	.	314;314;314;314;314;314	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	Y	314;314;314;314;314;258;314;314;314;314	ENSP00000327687:D314Y;ENSP00000373777:D314Y;ENSP00000382797:D314Y;ENSP00000382798:D314Y;ENSP00000446326:D314Y;ENSP00000373776:D314Y;ENSP00000382791:D314Y;ENSP00000382793:D314Y;ENSP00000311646:D314Y	ENSP00000311646:D314Y	D	-	1	0	GRIK1	29945323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.393000	0.59665	2.693000	0.91896	0.655000	0.94253	GAT	GRIK1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000171189		0.438	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	-	0	41	0	C			31023452	-1	tier1	-	no_errors	ENST00000535441	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	A	A	31023452	C	A	31023452	3	1	136	1	0	0	0	0	1	0	0	0	6800	855	30	3	2024	3	GRIK1	21	31023452	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09		31023452	17106443	96	34911											
KREMEN1	83999	genome.wustl.edu	37	chr22	29490307	29490307	+	Silent	SNP	C	C	T	0	0	0	1	1	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	aactggacagcactacaaggCgggaagccatgtctgttttg	11	9	12	9	1	1	0	0	0	1	0	1	2	1	2	1	3	4	2	1	3	4	3	rs371152545		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr22:29490307C>T	ENST00000407188.1	+	2	153	c.153C>T	c.(151-153)ggC>ggT	p.G51G	KREMEN1_ENST00000327813.5_Silent_p.G53G|KREMEN1_ENST00000400338.2_Silent_p.G53G|KREMEN1_ENST00000400335.4_Silent_p.G53G			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	51	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				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						CACTACAAGGCGGGAAGCCAT	0.483																																																	0								C	,	0,3844		0,0,1922	113	110	111		159,159	-4.6	1	22		111	1,8259		0,1,4129	no	coding-synonymous,coding-synonymous	KREMEN1	NM_001039570.2,NM_032045.4	,	0,1,6051	TT,TC,CC		0.0121,0.0,0.0083	,	53/459,53/493	29490307	1,12103	1922	4130	6052	SO:0001819	synonymous_variant	0			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.153C>T	22.37:g.29490307C>T			B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Silent	SNP	pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.G53	ENST00000407188.1	37	c.159	CCDS43000.2	22																																																																																			KREMEN1	-	pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000183762		0.483	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	-	0	45	0	C			29490307	1	tier1	-	no_errors	ENST00000327813	ensembl	human	known	74_37	silent	31.15	42	19	SNP	0.806	T	T	29490307	C	T	29490307	2	4	136	1	0	0	0	0	0	0	0	1	8469	755	27	1		1	KREMEN1	22	29490307	Silent	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09		29490307	21814259	97	34912											
TIMP3	7078	genome.wustl.edu	37	chr22	33255310	33255310	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagggcggctactgcagctgGtaccgaggatgggccccccc	7	5	15	14	2	0	0	0	0	0	0	0	2	0	1	4	5	4	4	4	5	3	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr22:33255310G>A	ENST00000266085.6	+	5	883	c.582G>A	c.(580-582)tgG>tgA	p.W194*	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	194					cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						ACTGCAGCTGGTACCGAGGAT	0.607																																																	0													65	55	59					22																	33255310		2203	4300	6503	SO:0001587	stop_gained	0				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.582G>A	22.37:g.33255310G>A	ENSP00000266085:p.Trp194*		B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Nonsense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.W194*	ENST00000266085.6	37	c.582	CCDS13911.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.506947|6.506947	0.97620|0.97620	.|.	.|.	ENSG00000100234|ENSG00000100234	ENST00000382049|ENST00000266085;ENST00000538671	.|.	.|.	.|.	3.91|3.91	3.91|3.91	0.45181|0.45181	.|.	.|0.069893	.|0.64402	.|D	.|0.000006	T|.	0.35682|.	0.0940|.	.|.	.|.	.|.	0.34627|0.34627	D|D	0.719256|0.719256	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35748|.	-0.9776|.	5|.	0.87932|0.02654	D|T	0|1	-15.6895|-15.6895	16.1096|16.1096	0.81250|0.81250	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	I|X	197|194;128	.|.	ENSP00000371481:V197I|ENSP00000266085:W194X	V|W	+|+	1|3	0|0	TIMP3|TIMP3	31585310|31585310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.657000|9.657000	0.98554|0.98554	2.019000|2.019000	0.59389|0.59389	0.561000|0.561000	0.74099|0.74099	GTA|TGG	TIMP3	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP	ENSG00000100234		0.607	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP3	HGNC	protein_coding	OTTHUMT00000075672.2	-	0	30	0	G	NM_000362		33255310	1	tier1	-	no_errors	ENST00000266085	ensembl	human	known	74_37	nonsense	34.00	33	17	SNP	1.000	A	A	33255310	G	A	33255310	4	1	136	1	0	0	0	0	0	1	0	0	15966	1270	44	3	600	3	TIMP3	22	33255310	Nonsense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	3765003	33255310	18049256	98	34913											
USP9X	8239	genome.wustl.edu	37	chrX	41000020	41000020	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaaataattgcagcccttAttaagtaagttacatttaaa	16	15	4	6	0	1	0	1	0	0	0	1	0	1	0	1	0	3	3	1	0	8	9			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chrX:41000020A>C	ENST00000324545.8	+	7	1399	c.766A>C	c.(766-768)Att>Ctt	p.I256L	USP9X_ENST00000378308.2_Missense_Mutation_p.I256L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	256					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						TGCAGCCCTTATTAAGTAAGT	0.323																																					Ovarian(172;1807 2695 35459 49286)												0													65	58	61					X																	41000020		2202	4297	6499	SO:0001583	missense	0			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.766A>C	X.37:g.41000020A>C	ENSP00000316357:p.Ile256Leu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.I256L	ENST00000324545.8	37	c.766	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024680	0.35701	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.75260	-0.92;-0.92	6.06	6.06	0.98353	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	N	0.12637	0.245	0.80722	D	1	B;B	0.20052	0.041;0.024	B;B	0.19946	0.027;0.012	T	0.54807	-0.8238	10	0.02654	T	1	.	15.4917	0.75611	1.0:0.0:0.0:0.0	.	256;256	Q93008-1;Q93008	.;USP9X_HUMAN	L	256	ENSP00000367558:I256L;ENSP00000316357:I256L	ENSP00000316357:I256L	I	+	1	0	USP9X	40884964	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.962000	0.93254	2.043000	0.60533	0.481000	0.45027	ATT	USP9X	-	NULL	ENSG00000124486		0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	0	71	0	A	NM_004652		41000020	1	tier1	-	no_errors	ENST00000324545	ensembl	human	known	74_37	missense	7.35	126	10	SNP	1.000	C	C	41000020	A	C	41000020	3	2	136	1	0	0	0	0	1	0	0	0	17139	449	16	4	788	4	USP9X	23	41000020	Missense_Mutation	SNP	A	TCGA-M9-A5M8-01A-11D-A28B-09		41000020	114270540	99	34914											
HDAC6	10013	genome.wustl.edu	37	chrX	48664042	48664042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctctccccaggcccGgtttgctgaaaaggaagagc	9	8	10	14	1	2	2	1	1	1	1	4	3	3	3	4	3	2	2	4	3	3	1			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chrX:48664042G>A	ENST00000334136.5	+	6	579	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	HDAC6_ENST00000376619.2_Missense_Mutation_p.R134Q|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000444343.2_Missense_Mutation_p.R148Q|HDAC6_ENST00000413163.2_Missense_Mutation_p.R79Q			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	134	Histone deacetylase 1.				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)	CCCCAGGCCCGGTTTGCTGAA	0.572																																					Pancreas(112;205 1675 2305 8976 15959)												0													79	58	65					X																	48664042		2194	4282	6476	SO:0001583	missense	0			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.401G>A	X.37:g.48664042G>A	ENSP00000334061:p.Arg134Gln		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.R148Q	ENST00000334136.5	37	c.443	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595587	0.66219	.	.	ENSG00000094631	ENST00000423941;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.07	4.07	0.47477	Histone deacetylase domain (2);	0.093336	0.41823	D	0.000805	T	0.81173	0.4767	M	0.77313	2.365	0.48830	D	0.999719	D;D;D;P	0.67145	0.968;0.996;0.968;0.621	P;P;P;B	0.60789	0.476;0.879;0.476;0.084	D	0.83628	0.0143	10	0.56958	D	0.05	-17.4854	13.5819	0.61907	0.0:0.0:1.0:0.0	.	124;79;134;134	B4DZN1;E7EUZ1;Q9UBN7;Q9BRX7	.;.;HDAC6_HUMAN;.	Q	134;134;148;134;134;134;134;79;134;134;134;134	ENSP00000365831:R134Q;ENSP00000398566:R148Q;ENSP00000365795:R134Q;ENSP00000334061:R134Q;ENSP00000365804:R134Q;ENSP00000398801:R79Q;ENSP00000393916:R134Q;ENSP00000402189:R134Q;ENSP00000402751:R134Q;ENSP00000394377:R134Q	ENSP00000334061:R134Q	R	+	2	0	HDAC6	48548986	0.997000	0.39634	0.733000	0.30861	0.602000	0.36980	2.920000	0.48844	1.990000	0.58119	0.292000	0.19580	CGG	HDAC6	-	pfam_His_deacetylse_dom	ENSG00000094631		0.572	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	-	0	61	0	G	NM_006044		48664042	1	tier1	-	no_errors	ENST00000444343	ensembl	human	known	74_37	missense	36.54	66	38	SNP	0.970	A	A	48664042	G	A	48664042	3	1	136	1	0	0	0	0	1	0	0	0	7038	1116	39	1	419	1	HDAC6	23	48664042	Missense_Mutation	SNP	G	TCGA-M9-A5M8-01A-11D-A28B-09	7664022	48664042	106606518	100	34915											
AR	367	genome.wustl.edu	37	chrX	66905892	66905892	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagcagaaatgattgcacTattgataaattccgaaggaa	16	9	9	7	1	0	3	0	2	0	1	1	5	1	4	2	1	2	2	2	1	6	5			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chrX:66905892T>C	ENST00000374690.3	+	3	2333	c.1809T>C	c.(1807-1809)acT>acC	p.T603T	AR_ENST00000396044.3_Silent_p.T603T|AR_ENST00000504326.1_Silent_p.T603T|AR_ENST00000396043.2_Silent_p.T71T|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	602	Interaction with HIPK3. {ECO:0000250}.|Interaction with LPXN.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ATGATTGCACTATTGATAAAT	0.408									Androgen Insensitivity Syndrome																																								0													124	107	112					X																	66905892		2203	4300	6503	SO:0001819	synonymous_variant	0	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.1809T>C	X.37:g.66905892T>C			A2RUN2|B1AKD7|Q9UD95	Silent	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.T603	ENST00000374690.3	37	c.1809	CCDS14387.1	X																																																																																			AR	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000169083		0.408	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	-	0	96	0	T	NM_000044		66905892	1	tier1	-	no_errors	ENST00000374690	ensembl	human	known	74_37	silent	15.38	110	20	SNP	1.000	C	C	66905892	T	C	66905892	2	2	136	1	0	0	0	0	0	0	0	1	836	1509	53	4		4	AR	23	66905892	Silent	SNP	T	TCGA-M9-A5M8-01A-11D-A28B-09	18241850	66905892	88364668	101	34916											
ARMCX1	51309	genome.wustl.edu	37	chrX	100807920	100807920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagctataccatgggcCgcactcgggaagctggctgc	7	7	13	14	2	0	0	0	0	0	0	2	1	1	1	3	3	4	4	3	3	3	2			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chrX:100807920C>T	ENST00000372829.3	+	4	378	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	3						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						TACCATGGGCCGCACTCGGGA	0.602																																																	0													56	52	53					X																	100807920		2203	4300	6503	SO:0001583	missense	0			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.7C>T	X.37:g.100807920C>T	ENSP00000361917:p.Arg3Cys		Q53HK2|Q9H2Q0	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R3C	ENST00000372829.3	37	c.7	CCDS14487.1	X	.	.	.	.	.	.	.	.	.	.	c	17.45	3.391981	0.62066	.	.	ENSG00000126947	ENST00000372829	T	0.37584	1.19	3.6	2.71	0.32032	.	1.005610	0.08026	N	0.992663	T	0.51126	0.1656	L	0.54323	1.7	0.40279	D	0.978377	D	0.76494	0.999	D	0.64776	0.929	T	0.44390	-0.9331	10	0.72032	D	0.01	-7.0009	7.3086	0.26461	0.2616:0.7384:0.0:0.0	.	3	Q9P291	ARMX1_HUMAN	C	3	ENSP00000361917:R3C	ENSP00000361917:R3C	R	+	1	0	ARMCX1	100694576	0.994000	0.37717	0.998000	0.56505	0.987000	0.75469	0.998000	0.29744	0.852000	0.35287	0.544000	0.68410	CGC	ARMCX1	-	NULL	ENSG00000126947		0.602	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX1	HGNC	protein_coding	OTTHUMT00000057561.1	-	0	77	0	C	NM_016608		100807920	1	tier1	-	no_errors	ENST00000372829	ensembl	human	known	74_37	missense	27.27	80	30	SNP	0.998	T	T	100807920	C	T	100807920	3	4	136	1	0	0	0	0	1	0	0	0	960	652	23	1	9	1	ARMCX1	23	100807920	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	33902028	100807920	54462640	102	34917											
GABRA3	2556	genome.wustl.edu	37	chrX	151424445	151424445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcatgccatgtctgcCgaaaaaatacatcaatagtg	14	12	6	9	1	4	0	3	0	1	0	4	1	4	0	2	0	3	0	2	0	6	3			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chrX:151424445C>T	ENST00000370314.4	-	5	594	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	GABRA3_ENST00000535043.1_Missense_Mutation_p.R119Q	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	119					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCATGTCTGCCGAAAAAATAC	0.428																																					NSCLC(142;2578 2613 10251 16743)												0													105	88	94					X																	151424445		2203	4300	6503	SO:0001583	missense	0				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.356G>A	X.37:g.151424445C>T	ENSP00000359337:p.Arg119Gln		Q8TAF9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R119Q	ENST00000370314.4	37	c.356	CCDS14706.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.137175	0.94517	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043;ENST00000417858	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.39	5.39	0.77823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88588	0.6477	M	0.84082	2.675	0.54753	D	0.999987	D	0.71674	0.998	D	0.79108	0.992	D	0.90301	0.4330	10	0.87932	D	0	.	15.4477	0.75243	0.0:1.0:0.0:0.0	.	119	P34903	GBRA3_HUMAN	Q	119;119;119;9	ENSP00000359337:R119Q;ENSP00000359334:R119Q;ENSP00000443527:R119Q;ENSP00000413772:R9Q	ENSP00000359334:R119Q	R	-	2	0	GABRA3	151175101	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.770000	0.85390	2.241000	0.73720	0.544000	0.68410	CGG	GABRA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000011677		0.428	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA3	HGNC	protein_coding	OTTHUMT00000060921.1	-	0	46	0	C	NM_000808		151424445	-1	tier1	-	no_errors	ENST00000370314	ensembl	human	known	74_37	missense	28.30	38	15	SNP	1.000	T	T	151424445	C	T	151424445	3	4	136	1	0	0	0	0	1	0	0	0	6186	652	23	1	1146	1	GABRA3	23	151424445	Missense_Mutation	SNP	C	TCGA-M9-A5M8-01A-11D-A28B-09	50616525	151424445	3846115	103	34918											
SLC45A1	50651	genome.wustl.edu	37	chr1	8395601	8395601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcgcctctgctccaccatCtgcaacatgcccaaggcgct	7	7	10	17	2	2	0	0	0	2	0	3	0	3	0	4	2	4	3	4	2	2	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:8395601C>G	ENST00000471889.1	+	6	1933	c.1548C>G	c.(1546-1548)atC>atG	p.I516M	SLC45A1_ENST00000377479.2_Missense_Mutation_p.I550M|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Missense_Mutation_p.I516M			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	516					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)		GCTCCACCATCTGCAACATGC	0.652																																																	0													78	78	78					1																	8395601		2203	4300	6503	SO:0001583	missense	0			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.1548C>G	1.37:g.8395601C>G	ENSP00000418096:p.Ile516Met		Q5VY46|Q5VY49	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.I550M	ENST00000471889.1	37	c.1650	CCDS30577.1	1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781693	0.49891	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.90676	-2.71;-2.71;-2.71	5.09	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	L	0.55834	1.745	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.89360	0.3667	10	0.11485	T	0.65	-42.4257	12.5402	0.56165	0.0:0.919:0.0:0.081	.	516	Q9Y2W3	S45A1_HUMAN	M	516;550;516	ENSP00000418096:I516M;ENSP00000366699:I550M;ENSP00000289877:I516M	ENSP00000289877:I516M	I	+	3	3	SLC45A1	8318188	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.441000	0.66569	1.131000	0.42111	0.561000	0.74099	ATC	SLC45A1	-	NULL	ENSG00000162426		0.652	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	-	0	31	0	C			8395601	1	tier1	-	no_errors	ENST00000377479	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	G	G	8395601	C	G	8395601	3	3	137	1	0	0	0	0	1	0	0	0	14685	903	32	5	1566	5	SLC45A1	1	8395601	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09		8395601	240855020	1	34919											
KIAA2013	90231	genome.wustl.edu	37	chr1	11982770	11982770	+	Frame_Shift_Del	DEL	G	G	-																															gaagaggaagaggtggaagaGggtgattagggaggccacgc																										TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:11982770delG	ENST00000376572.3	-	2	1995	c.1810delC	c.(1810-1812)ctcfs	p.L604fs	KIAA2013_ENST00000376576.3_Frame_Shift_Del_p.L604fs	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	604						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)		AGGTGGAAGAGGGTGATTAGG	0.597																																																	0													38	37	37					1																	11982770		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1810delC	1.37:g.11982770delG	ENSP00000365756:p.Leu604fs		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Frame_Shift_Del	DEL	pfam_DUF2152	p.L604fs	ENST00000376572.3	37	c.1810	CCDS141.1	1																																																																																			KIAA2013	-	pfam_DUF2152	ENSG00000116685		0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	HGNC	protein_coding	OTTHUMT00000006858.1		0	24	0	G	NM_138346		11982770	-1	tier1		no_errors	ENST00000376576	ensembl	human	known	74_37	frame_shift_del	40.00	15	10	DEL	1.000	-	-	11982770	G	-	11982770	7	5	137	1	0	1	0	1	0	0	0	0	8294	1000	35	0	102	0	KIAA2013	1	11982770	Frame_Shift_Del	DEL	G	TCGA-Q9-A6FU-01A-11D-A31U-09	3587169	11982770	237267851	2	34920											
SPEN	23013	genome.wustl.edu	37	chr1	16263967	16263967	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgaagcctgaccttccagtcTctcttcccactcagactgcc	7	11	6	17	0	3	3	1	2	2	1	6	3	5	3	5	0	2	0	5	0	1	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:16263967T>C	ENST00000375759.3	+	12	10540	c.10336T>C	c.(10336-10338)Tct>Cct	p.S3446P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3446	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCTTCCAGTCTCTCTTCCCAC	0.577																																																	0													87	79	81					1																	16263967		2203	4300	6503	SO:0001583	missense	0				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.10336T>C	1.37:g.16263967T>C	ENSP00000364912:p.Ser3446Pro		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.S3446P	ENST00000375759.3	37	c.10336	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	T	6.856	0.527276	0.13066	.	.	ENSG00000065526	ENST00000375759	T	0.07908	3.15	5.23	4.32	0.51571	.	.	.	.	.	T	0.02494	0.0076	N	0.00926	-1.1	0.22479	N	0.999069	B	0.02656	0.0	B	0.01281	0.0	T	0.35674	-0.9779	9	0.02654	T	1	-9.4211	10.649	0.45636	0.0:0.8513:0.0:0.1487	.	3446	Q96T58	MINT_HUMAN	P	3446	ENSP00000364912:S3446P	ENSP00000364912:S3446P	S	+	1	0	SPEN	16136554	0.397000	0.25270	0.890000	0.34922	0.338000	0.28826	1.080000	0.30779	1.318000	0.45170	-0.146000	0.13790	TCT	SPEN	-	NULL	ENSG00000065526		0.577	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1		0	33	0	T	NM_015001		16263967	1			no_errors	ENST00000375759	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.992	C	C	16263967	T	C	16263967	3	2	137	1	0	0	0	0	1	0	0	0	15085	1551	54	4	10382	4	SPEN	1	16263967	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	4281197	16263967	232986654	3	34921											
SH2D5	400745	genome.wustl.edu	37	chr1	21050598	21050598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcccgagccgacagctgCagctgggtctcataggtgca	7	7	13	14	2	1	0	1	0	1	0	3	2	2	0	3	2	5	4	3	2	1	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:21050598C>T	ENST00000444387.2	-	7	1174	c.777G>A	c.(775-777)ctG>ctA	p.L259L	SH2D5_ENST00000375031.1_Silent_p.L175L|SH2D5_ENST00000460804.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	259										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-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;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGACAGCTGCAGCTGGGTCT	0.662																																																	0													35	44	41					1																	21050598		2123	4207	6330	SO:0001819	synonymous_variant	0			AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.777G>A	1.37:g.21050598C>T			B7Z3W3|Q5SSJ2	Silent	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH2	p.L259	ENST00000444387.2	37	c.777	CCDS44080.1	1																																																																																			SH2D5	-	NULL	ENSG00000189410		0.662	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D5	HGNC	protein_coding	OTTHUMT00000007455.2	-	0	16	0	C	XM_375698		21050598	-1	tier1	-	no_errors	ENST00000444387	ensembl	human	known	74_37	silent	25.93	20	7	SNP	1.000	T	T	21050598	C	T	21050598	2	4	137	1	0	0	0	0	0	0	0	1	14282	697	25	3		3	SH2D5	1	21050598	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	4786631	21050598	228200023	4	34922											
FCN3	8547	genome.wustl.edu	37	chr1	27695957	27695957	+	Missense_Mutation	SNP	T	T	C	0	1	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	gggcctcccactgtggaggcTcagggaatcccctagcaggg	7	6	15	13	0	1	0	1	0	0	0	3	2	3	2	4	5	1	2	4	5	2	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:27695957T>C	ENST00000270879.4	-	8	675	c.670A>G	c.(670-672)Agc>Ggc	p.S224G	MAP3K6_ENST00000374040.3_5'Flank|MAP3K6_ENST00000493901.1_5'Flank|FCN3_ENST00000354982.2_Missense_Mutation_p.S213G|MAP3K6_ENST00000357582.2_5'Flank	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	224	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.S224G(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTGGAGGCTCAGGGAATCC	0.562																																																	1	Substitution - Missense(1)	large_intestine(1)											65	62	63					1																	27695957		2203	4300	6503	SO:0001583	missense	0			D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"Fibrinogen C domain containing"	3625	protein-coding gene	gene with protein product	"Hakata antigen"	604973	"ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.670A>G	1.37:g.27695957T>C	ENSP00000270879:p.Ser224Gly		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.S224G	ENST00000270879.4	37	c.670	CCDS300.1	1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290831	0.40494	.	.	ENSG00000142748	ENST00000270879;ENST00000354982	T;T	0.77489	-1.1;-1.1	5.0	5.0	0.66597	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.352632	0.22824	N	0.055188	T	0.72391	0.3454	L	0.42686	1.345	0.80722	D	1	B;B	0.20671	0.047;0.047	B;B	0.28305	0.035;0.088	T	0.70226	-0.4930	10	0.49607	T	0.09	.	12.7131	0.57100	0.0:0.0:0.0:1.0	.	213;224	Q6UXM4;O75636	.;FCN3_HUMAN	G	224;213	ENSP00000270879:S224G;ENSP00000347077:S213G	ENSP00000270879:S224G	S	-	1	0	FCN3	27568544	0.002000	0.14202	0.985000	0.45067	0.279000	0.26890	0.107000	0.15375	2.102000	0.63906	0.459000	0.35465	AGC	FCN3	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000142748		0.562	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCN3	HGNC	protein_coding	OTTHUMT00000015667.1		0	19	0	T			27695957	-1			no_errors	ENST00000270879	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.981	C	C	27695957	T	C	27695957	3	2	137	1	0	0	0	0	1	0	0	0	5815	1551	54	4	233	4	FCN3	1	27695957	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	6645359	27695957	221554664	5	34923											
PHC2	1912	genome.wustl.edu	37	chr1	33838009	33838009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctgctgcaggtactgagCggccgtgctgggctgtctgt	4	11	15	11	2	2	1	0	1	2	0	2	1	2	1	1	3	5	5	1	3	1	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:33838009C>T	ENST00000257118.5	-	2	267	c.214G>A	c.(214-216)Gct>Act	p.A72T	PHC2_ENST00000419414.2_Missense_Mutation_p.A72T|PHC2_ENST00000431992.1_Missense_Mutation_p.A72T|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	72	Gln-rich.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGTACTGAGCGGCCGTGCTG	0.662																																																	0													25	26	25					1																	33838009		2203	4300	6503	SO:0001583	missense	0			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.214G>A	1.37:g.33838009C>T	ENSP00000257118:p.Ala72Thr		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.A72T	ENST00000257118.5	37	c.214	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466438	0.84425	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.74842	-0.29;-0.88;-0.42	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.86134	0.5860	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.99	D	0.88060	0.2793	10	0.87932	D	0	-12.1186	15.8807	0.79201	0.0:1.0:0.0:0.0	.	72;72;72	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	T	72	ENSP00000389436:A72T;ENSP00000257118:A72T;ENSP00000391440:A72T	ENSP00000257118:A72T	A	-	1	0	PHC2	33610596	1.000000	0.71417	0.066000	0.19879	0.390000	0.30446	7.621000	0.83083	2.326000	0.78906	0.655000	0.94253	GCT	PHC2	-	NULL	ENSG00000134686		0.662	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1		0	62	0	C	NM_198040		33838009	-1			no_errors	ENST00000419414	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.996	T	T	33838009	C	T	33838009	3	4	137	1	0	0	0	0	1	0	0	0	11856	768	27	1	2414	1	PHC2	1	33838009	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	6142052	33838009	215412612	6	34924											
CSMD2	114784	genome.wustl.edu	37	chr1	34158555	34158555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgcagccggcctctgcttCgatggtccagatgcagttga	6	10	14	11	2	1	2	0	1	1	1	3	3	2	2	3	3	4	4	3	3	0	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:34158555C>T	ENST00000373380.1	-	4	866	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	CSMD2_ENST00000373381.4_Missense_Mutation_p.E1343K|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1303	CUB 2. {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)				GCCTCTGCTTCGATGGTCCAG	0.562																																																	0													162	152	155					1																	34158555		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.646G>A	1.37:g.34158555C>T	ENSP00000362478:p.Glu216Lys		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.E1343K	ENST00000373380.1	37	c.4027		1	.	.	.	.	.	.	.	.	.	.	C	36	5.880781	0.97062	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.17854	2.25;2.25	5.52	5.52	0.82312	CUB (5);	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	L	0.45744	1.44	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.993	P;D;D	0.67900	0.87;0.954;0.921	T	0.02075	-1.1218	10	0.56958	D	0.05	.	18.4386	0.90656	0.0:1.0:0.0:0.0	.	216;1303;1343	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	K	1343;216	ENSP00000362479:E1343K;ENSP00000362478:E216K	ENSP00000241312:E1303K	E	-	1	0	CSMD2	33931142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.747000	0.85070	2.597000	0.87782	0.655000	0.94253	GAA	CSMD2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000121904		0.562	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	-	0	42	0	C	NM_052896		34158555	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	41.03	23	16	SNP	1.000	T	T	34158555	C	T	34158555	3	4	137	1	0	0	0	0	1	0	0	0	3954	893	31	1	6736	1	CSMD2	1	34158555	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	320546	34158555	215092066	7	34925											
HIVEP3	59269	genome.wustl.edu	37	chr1	41979259	41979259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggcgggggcgcctctgagGatggtctggacagctcatcc	6	7	16	12	2	3	1	1	1	2	0	4	3	4	3	2	6	1	1	2	6	0	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:41979259G>T	ENST00000372583.1	-	8	6518	c.5633C>A	c.(5632-5634)tCc>tAc	p.S1878Y	HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1878Y|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1878Y|HIVEP3_ENST00000372584.1_Missense_Mutation_p.S1878Y	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1878					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)				CGCCTCTGAGGATGGTCTGGA	0.652																																																	0													36	42	40					1																	41979259		2203	4300	6503	SO:0001583	missense	0			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.5633C>A	1.37:g.41979259G>T	ENSP00000361664:p.Ser1878Tyr		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1878Y	ENST00000372583.1	37	c.5633	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509733	0.44660	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07800	3.17;3.16;3.16;3.17	5.52	2.61	0.31194	.	0.807366	0.10767	N	0.636505	T	0.06735	0.0172	N	0.19112	0.55	0.09310	N	1	B;B	0.28998	0.23;0.148	B;B	0.33521	0.165;0.08	T	0.40850	-0.9541	10	0.49607	T	0.09	-3.8841	7.069	0.25167	0.2074:0.133:0.6596:0.0	.	1878;1878	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Y	1878	ENSP00000361665:S1878Y;ENSP00000361664:S1878Y;ENSP00000247584:S1878Y;ENSP00000410828:S1878Y	ENSP00000247584:S1878Y	S	-	2	0	HIVEP3	41751846	0.368000	0.25031	0.019000	0.16419	0.867000	0.49689	1.829000	0.39121	0.676000	0.31285	0.655000	0.94253	TCC	HIVEP3	-	NULL	ENSG00000127124		0.652	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0	42	0	G	NM_024503		41979259	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.005	T	T	41979259	G	T	41979259	3	4	137	1	0	0	0	0	1	0	0	0	7215	1174	41	3	1595	3	HIVEP3	1	41979259	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	7820704	41979259	207271362	8	34926											
UROD	7389	genome.wustl.edu	37	chr1	45479618	45479618	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggttgagggtggtggctCaagcaccatggctcaggcca	8	8	15	10	0	2	1	2	1	0	0	2	1	2	1	2	6	1	4	2	6	1	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:45479618C>G	ENST00000246337.4	+	6	631	c.512C>G	c.(511-513)tCa>tGa	p.S171*	HECTD3_ENST00000372172.4_5'Flank|UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	171					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GGTGGTGGCTCAAGCACCATG	0.532									Porphyria Cutanea Tarda, Type II																																								0													149	138	141					1																	45479618		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	PCT-II	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.512C>G	1.37:g.45479618C>G	ENSP00000246337:p.Ser171*		A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Nonsense_Mutation	SNP	pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE	p.S171*	ENST00000246337.4	37	c.512	CCDS518.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973564	0.74246	.	.	ENSG00000126088	ENST00000246337;ENST00000434478;ENST00000372135	.	.	.	5.78	4.85	0.62838	.	0.115930	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-50.735	15.9639	0.79952	0.1359:0.8641:0.0:0.0	.	.	.	.	X	171;150;150	.	ENSP00000246337:S171X	S	+	2	0	UROD	45252205	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	7.211000	0.77933	1.382000	0.46385	0.655000	0.94253	TCA	UROD	-	pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE	ENSG00000126088		0.532	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROD	HGNC	protein_coding	OTTHUMT00000024803.1	-	0	25	0	C	NM_000374		45479618	1	tier1	-	no_errors	ENST00000246337	ensembl	human	known	74_37	nonsense	28.00	18	7	SNP	1.000	G	G	45479618	C	G	45479618	4	3	137	1	0	0	0	0	0	1	0	0	17078	838	29	5	534	5	UROD	1	45479618	Nonsense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	3500359	45479618	203771003	9	34927											
RPE65	6121	genome.wustl.edu	37	chr1	68914383	68914383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaccaccagcaggatgCtcaaccctgaaatggtggaa	13	8	10	10	0	1	1	1	1	0	0	1	3	1	3	3	3	4	3	3	3	4	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:68914383C>T	ENST00000262340.5	-	2	71	c.18G>A	c.(16-18)gaG>gaA	p.E6E		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	6					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						CAGCAGGATGCTCAACCCTGA	0.517																																																	0													90	79	83					1																	68914383		2203	4300	6503	SO:0001819	synonymous_variant	0			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.18G>A	1.37:g.68914383C>T			A8K1L0|Q5T9U3	Silent	SNP	pfam_Carotenoid_Oase	p.E6	ENST00000262340.5	37	c.18	CCDS643.1	1																																																																																			RPE65	-	NULL	ENSG00000116745		0.517	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1		0	28	0	C	NM_000329		68914383	-1			no_errors	ENST00000262340	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.999	T	T	68914383	C	T	68914383	2	4	137	1	0	0	0	0	0	0	0	1	13590	796	28	3		3	RPE65	1	68914383	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	23434765	68914383	180336238	10	34928											
SLC16A1	6566	genome.wustl.edu	37	chr1	113460327	113460327	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgtttagggtgtcttccaAtaagatctgtatttgcatca	9	17	8	7	0	3	1	1	0	2	1	4	1	4	1	1	1	1	3	1	1	4	7			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:113460327A>G	ENST00000538576.1	-	4	1532	c.701T>C	c.(700-702)aTt>aCt	p.I234T	SLC16A1_ENST00000369626.3_Missense_Mutation_p.I234T|SLC16A1_ENST00000433570.4_Missense_Mutation_p.I234T	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	234					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	GTGTCTTCCAATAAGATCTGT	0.408																																																	0													106	105	106					1																	113460327		2203	4300	6503	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"Solute carriers"	10922	protein-coding gene	gene with protein product		600682	"solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.701T>C	1.37:g.113460327A>G	ENSP00000441065:p.Ile234Thr		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.I234T	ENST00000538576.1	37	c.701	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	A	0.867	-0.733328	0.03135	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580	T;T;T;T;T	0.25912	1.92;1.92;2.26;1.93;1.77	5.73	4.58	0.56647	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.170899	0.50627	D	0.000102	T	0.09992	0.0245	L	0.36672	1.1	0.41580	D	0.988739	B;B	0.23806	0.091;0.053	B;B	0.33121	0.158;0.102	T	0.07947	-1.0746	10	0.14252	T	0.57	.	12.0464	0.53483	0.8705:0.0:0.0:0.1295	.	234;234	Q49A45;P53985	.;MOT1_HUMAN	T	234	ENSP00000358640:I234T;ENSP00000441065:I234T;ENSP00000416167:I234T;ENSP00000445061:I234T;ENSP00000399104:I234T	ENSP00000358640:I234T	I	-	2	0	SLC16A1	113261850	0.997000	0.39634	0.931000	0.37212	0.070000	0.16714	4.128000	0.57951	1.065000	0.40693	0.455000	0.32223	ATT	SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.408	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	-	0	62	0	A	NM_003051		113460327	-1	tier1	-	no_errors	ENST00000369626	ensembl	human	known	74_37	missense	32.76	39	19	SNP	0.998	G	G	113460327	A	G	113460327	3	3	137	1	0	0	0	0	1	0	0	0	14447	101	4	4	809	4	SLC16A1	1	113460327	Missense_Mutation	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	44545944	113460327	135790294	11	34929											
MAGI3	260425	genome.wustl.edu	37	chr1	113933837	113933837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggcacctgctgcgtcgtctCgggcaaggcgcccagcccag	5	5	15	16	4	1	0	0	0	1	0	3	0	1	0	3	3	3	3	3	3	1	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:113933837C>G	ENST00000307546.9	+	1	257	c.182C>G	c.(181-183)tCg>tGg	p.S61W	MAGI3_ENST00000369611.4_Missense_Mutation_p.S61W|MAGI3_ENST00000369615.1_Missense_Mutation_p.S61W|MAGI3_ENST00000369617.4_Missense_Mutation_p.S61W|MAGI3_ENST00000486456.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	61	Interaction with ADRB1 and TGFA. {ECO:0000250}.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCGTCGTCTCGGGCAAGGCG	0.721																																																	0													10	10	10					1																	113933837		2128	4211	6339	SO:0001583	missense	0			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.182C>G	1.37:g.113933837C>G	ENSP00000304604:p.Ser61Trp		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.S61W	ENST00000307546.9	37	c.182	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616324	0.66672	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.18657	2.39;2.2;2.39;2.39	3.98	3.98	0.46160	.	0.250565	0.26567	N	0.023651	T	0.28333	0.0700	L	0.52011	1.625	0.43803	D	0.996357	D;D;D	0.76494	0.999;0.991;0.999	D;P;D	0.70935	0.965;0.876;0.971	T	0.04976	-1.0914	10	0.87932	D	0	-12.1269	12.8531	0.57869	0.0:1.0:0.0:0.0	.	61;61;61	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	W	61	ENSP00000358630:S61W;ENSP00000304604:S61W;ENSP00000358628:S61W;ENSP00000358624:S61W	ENSP00000304604:S61W	S	+	2	0	MAGI3	113735360	0.998000	0.40836	0.997000	0.53966	0.981000	0.71138	2.885000	0.48570	1.767000	0.52121	0.456000	0.33151	TCG	MAGI3	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000081026		0.721	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	-	0	30	0	C	NM_152900		113933837	1	tier1	-	no_errors	ENST00000369611	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.984	G	G	113933837	C	G	113933837	3	3	137	1	0	0	0	0	1	0	0	0	9230	893	31	5	184	5	MAGI3	1	113933837	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	473510	113933837	135316784	12	34930											
VANGL1	81839	genome.wustl.edu	37	chr1	116206829	116206829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcagctgcagcccatgttcaCgctgcaggtggtccgctcca	6	8	12	15	2	1	0	1	0	0	0	3	0	3	0	3	2	4	7	3	2	0	1	rs201630629		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:116206829C>T	ENST00000355485.2	+	4	1023	c.752C>T	c.(751-753)aCg>aTg	p.T251M	VANGL1_ENST00000369510.4_Missense_Mutation_p.T249M|VANGL1_ENST00000369509.1_Missense_Mutation_p.T251M|VANGL1_ENST00000310260.3_Missense_Mutation_p.T251M	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	251			T -> M. {ECO:0000269|PubMed:19319979}.		multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)		p.T251M(1)		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)		CCCATGTTCACGCTGCAGGTG	0.587																																																	1	Substitution - Missense(1)	endometrium(1)											65	61	62					1																	116206829		2203	4300	6503	SO:0001583	missense	0			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	ENST00000355485.2:c.752C>T	1.37:g.116206829C>T	ENSP00000347672:p.Thr251Met		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.T251M	ENST00000355485.2	37	c.752	CCDS883.1	1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774538	0.70107	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.73	5.73	0.89815	.	0.160562	0.56097	D	0.000022	D	0.82412	0.5031	L	0.56769	1.78	0.42422	D	0.992642	D;D	0.58620	0.979;0.983	P;P	0.54210	0.629;0.745	T	0.79783	-0.1658	10	0.38643	T	0.18	-26.386	20.2921	0.98543	0.0:1.0:0.0:0.0	.	249;251	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	M	251;249;251;251	ENSP00000347672:T251M;ENSP00000358523:T249M;ENSP00000310800:T251M;ENSP00000358522:T251M	ENSP00000310800:T251M	T	+	2	0	VANGL1	116008352	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	2.984000	0.49353	2.879000	0.98667	0.650000	0.86243	ACG	VANGL1	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000173218		0.587	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VANGL1	HGNC	protein_coding	OTTHUMT00000033096.1		0	37	0	C			116206829	1			no_errors	ENST00000310260	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	116206829	C	T	116206829	3	4	137	1	0	0	0	0	1	0	0	0	17168	536	19	1	762	1	VANGL1	1	116206829	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	2272992	116206829	133043792	13	34931											
SPAG17	200162	genome.wustl.edu	37	chr1	118596717	118596717	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgattcctttgttacCtataatcagataaaattaaa	14	17	4	6	0	1	2	1	1	0	1	2	2	2	2	2	0	2	2	2	0	7	8			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:118596717C>A	ENST00000336338.5	-	20	2788		c.e20-1			NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17							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)		CCTTTGTTACCTATAATCAGA	0.328																																																	0													34	35	35					1																	118596717		2195	4294	6489	SO:0001630	splice_region_variant	0				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.2723-1G>T	1.37:g.118596717C>A			Q8NAZ1|Q9NT21	Splice_Site	SNP	-	e20-1	ENST00000336338.5	37	c.2723-1	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409479	0.25378	.	.	ENSG00000155761	ENST00000336338	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.093	0.72211	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPAG17	118398240	0.769000	0.28531	0.815000	0.32552	0.137000	0.21094	3.347000	0.52200	2.941000	0.99782	0.655000	0.94253	.	SPAG17	-	-	ENSG00000155761		0.328	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	-	0	56	0	C	NM_206996	Intron	118596717	-1	tier1	-	no_errors	ENST00000336338	ensembl	human	known	74_37	splice_site	7.84	47	4	SNP	0.527	A	A	118596717	C	A	118596717	5	1	137	1	0	0	0	0	0	0	1	0	15026	695	24	3	4065	3	SPAG17	1	118596717	Splice_Site	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	2389888	118596717	130653904	14	34932											
RNF115	27246	genome.wustl.edu	37	chr1	145682022	145682022	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattttttcttctgtaacaGaatactacaacacatctttg	13	17	3	8	0	3	1	0	0	3	1	3	1	3	1	0	0	4	1	0	0	6	9			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:145682022G>A	ENST00000369291.5	+	5	632		c.e5-1			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						TTCTGTAACAGAATACTACAA	0.353																																																	0													169	164	166					1																	145682022		2203	4300	6503	SO:0001630	splice_region_variant	0			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.429-1G>A	1.37:g.145682022G>A				Splice_Site	SNP	-	e5-1	ENST00000369291.5	37	c.429-1	CCDS922.1	1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705400	0.48412	.	.	ENSG00000121848	ENST00000369291	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4405	0.75178	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF115	144393379	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	6.920000	0.75799	2.500000	0.84329	0.655000	0.94253	.	RNF115	-	-	ENSG00000121848		0.353	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF115	HGNC	protein_coding	OTTHUMT00000038554.2	-	0	64	0	G	NM_014455	Intron	145682022	1	tier1	-	no_errors	ENST00000369291	ensembl	human	known	74_37	splice_site	26.23	44	16	SNP	1.000	A	A	145682022	G	A	145682022	5	1	137	1	0	0	0	0	0	0	1	0	13475	956	33	3	446	3	RNF115	1	145682022	Splice_Site	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	27085305	145682022	103568599	15	34933											
CD5L	922	genome.wustl.edu	37	chr1	157805731	157805731	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaactgactgattggatGaggaccttttgctctttttc	7	16	10	8	0	1	3	0	3	1	0	2	5	1	5	1	2	3	2	1	2	1	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:157805731G>T	ENST00000368174.4	-	3	366	c.270C>A	c.(268-270)ctC>ctA	p.L90L	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	90	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)			CTGATTGGATGAGGACCTTTT	0.498																																																	0													246	251	249					1																	157805731		2203	4300	6503	SO:0001819	synonymous_variant	0			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.270C>A	1.37:g.157805731G>T			A8K7M5|Q6UX63	Silent	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.L90	ENST00000368174.4	37	c.270	CCDS1171.1	1																																																																																			CD5L	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000073754		0.498	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5L	HGNC	protein_coding	OTTHUMT00000058346.1		0	45	0	G	NM_005894		157805731	-1			no_errors	ENST00000368174	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.000	T	T	157805731	G	T	157805731	2	4	137	1	0	0	0	0	0	0	0	1	3034	1277	45	3		3	CD5L	1	157805731	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	12123709	157805731	91444890	16	34934											
FMO3	2328	genome.wustl.edu	37	chr1	171083374	171083374	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaacaatgagatcatttTatttaaaggagtatttcctc	15	14	6	6	0	1	2	1	1	0	2	3	4	2	3	1	1	1	1	1	1	6	6			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:171083374T>C	ENST00000367755.4	+	7	1166	c.1055T>C	c.(1054-1056)tTa>tCa	p.L352S	FMO3_ENST00000392085.2_Missense_Mutation_p.L352S|FMO3_ENST00000542847.1_Missense_Mutation_p.L332S|FMO3_ENST00000538429.1_Missense_Mutation_p.L289S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	352					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)	GAGATCATTTTATTTAAAGGA	0.433																																																	0													93	92	92					1																	171083374		2203	4300	6503	SO:0001583	missense	0			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.1055T>C	1.37:g.171083374T>C	ENSP00000356729:p.Leu352Ser		B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.L352S	ENST00000367755.4	37	c.1055	CCDS1292.1	1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002690	0.54254	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.84897	0.5574	H	0.98612	4.28	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	D	0.90847	0.4728	10	0.87932	D	0	-16.1019	14.5384	0.67976	0.0:0.0:0.0:1.0	.	289;332;352	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	S	352;352;332;289	ENSP00000356729:L352S;ENSP00000375935:L352S;ENSP00000444073:L332S;ENSP00000439500:L289S	ENSP00000356729:L352S	L	+	2	0	FMO3	169349998	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	7.411000	0.80078	1.952000	0.56665	0.528000	0.53228	TTA	FMO3	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_2	ENSG00000007933		0.433	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO3	HGNC	protein_coding	OTTHUMT00000086219.1		0	41	0	T	NM_006894		171083374	1			no_errors	ENST00000367755	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.997	C	C	171083374	T	C	171083374	3	2	137	1	0	0	0	0	1	0	0	0	5978	1764	61	4	1077	4	FMO3	1	171083374	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	13277643	171083374	78167247	17	34935											
CFH	3075	genome.wustl.edu	37	chr1	196683032	196683032	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaagatggatggtcagctCaacccacgtgcattagtaag	13	8	12	8	1	2	1	2	0	0	1	2	3	2	3	1	3	3	3	1	3	4	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:196683032C>T	ENST00000367429.4	+	10	1744	c.1504C>T	c.(1504-1506)Caa>Taa	p.Q502*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	502	Sushi 8. {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						ATGGTCAGCTCAACCCACGTG	0.343																																																	0													86	82	84					1																	196683032		2203	4300	6503	SO:0001587	stop_gained	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1504C>T	1.37:g.196683032C>T	ENSP00000356399:p.Gln502*		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Q502*	ENST00000367429.4	37	c.1504	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.666929	0.96745	.	.	ENSG00000000971	ENST00000367429	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	14.2971	0.66321	0.0:1.0:0.0:0.0	.	.	.	.	X	502	.	ENSP00000356399:Q502X	Q	+	1	0	CFH	194949655	0.962000	0.33011	0.827000	0.32855	0.043000	0.13939	2.042000	0.41222	2.443000	0.82685	0.591000	0.81541	CAA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.343	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	-	0	41	0	C	NM_000186		196683032	1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	nonsense	31.82	30	14	SNP	0.920	T	T	196683032	C	T	196683032	4	4	137	1	0	0	0	0	0	1	0	0	3290	827	29	3	1560	3	CFH	1	196683032	Nonsense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	25599658	196683032	52567589	18	34936											
SOX13	9580	genome.wustl.edu	37	chr1	204091377	204091377	+	Frame_Shift_Del	DEL	C	C	-																															tccctcaggagccctcccagCccctgaacctcacagccaag																										TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:204091377delC	ENST00000367204.1	+	9	983	c.874delC	c.(874-876)cccfs	p.P292fs		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	292	Pro-rich.				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)			GCCCTCCCAGCCCCTGAACCT	0.637																																																	0													12	17	15					1																	204091377		2017	4176	6193	SO:0001589	frameshift_variant	0				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.874delC	1.37:g.204091377delC	ENSP00000356172:p.Pro292fs		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Frame_Shift_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.L293fs	ENST00000367204.1	37	c.874	CCDS44299.1	1																																																																																			SOX13	-	NULL	ENSG00000143842		0.637	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX13	HGNC	protein_coding	OTTHUMT00000087881.2		0	37	0	C	NM_005686		204091377	1	tier1		no_errors	ENST00000367204	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	1.000	-	-	204091377	C	-	204091377	7	5	137	1	0	1	0	1	0	0	0	0	14989	739	26	0	904	0	SOX13	1	204091377	Frame_Shift_Del	DEL	C	TCGA-Q9-A6FU-01A-11D-A31U-09	7408345	204091377	45159244	19	34937											
PFKFB2	5208	genome.wustl.edu	37	chr1	207243747	207243747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctacttcttggataaGggcgcaggtgcctttgaggg	6	11	15	9	1	1	1	0	1	1	0	1	2	1	2	2	5	2	1	2	5	2	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:207243747G>A	ENST00000367080.3	+	12	1339	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K	PFKFB2_ENST00000545806.1_Silent_p.K372K|PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000367079.2_Silent_p.K405K|PFKFB2_ENST00000411990.2_Silent_p.K307K|PFKFB2_ENST00000541914.1_Silent_p.K219K	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	405	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TCTTGGATAAGGGCGCAGGTG	0.607																																																	0													58	43	48					1																	207243747		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.1215G>A	1.37:g.207243747G>A			O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Silent	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.K405	ENST00000367080.3	37	c.1215	CCDS31004.1	1																																																																																			PFKFB2	-	pirsf_Bifunct_6PFK/fruc_bisP_Ptase	ENSG00000123836		0.607	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB2	HGNC	protein_coding	OTTHUMT00000087838.1	-	0	58	0	G			207243747	1	tier1	-	no_errors	ENST00000367080	ensembl	human	known	74_37	silent	16.28	36	7	SNP	0.999	A	A	207243747	G	A	207243747	2	1	137	1	0	0	0	0	0	0	0	1	11800	991	35	3		3	PFKFB2	1	207243747	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	3152370	207243747	42006874	20	34938											
SMYD2	56950	genome.wustl.edu	37	chr1	214504371	214504371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	gagacatggtcagatatgcaCgcaacgtcattgaagagttc	13	9	11	8	2	2	4	2	1	0	3	3	5	2	4	0	1	2	3	0	1	3	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:214504371C>A	ENST00000366957.5	+	9	917	c.895C>A	c.(895-897)Cgc>Agc	p.R299S	SMYD2_ENST00000415093.2_Intron|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	299					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CAGATATGCACGCAACGTCAT	0.507																																																	0													133	130	131					1																	214504371		2203	4300	6503	SO:0001583	missense	0			AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.895C>A	1.37:g.214504371C>A	ENSP00000355924:p.Arg299Ser		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.R299S	ENST00000366957.5	37	c.895	CCDS31022.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597319	0.87055	.	.	ENSG00000143499	ENST00000366957;ENST00000416415	T	0.17054	2.3	5.84	5.84	0.93424	.	0.350346	0.32687	N	0.005768	T	0.17280	0.0415	M	0.65975	2.015	0.80722	D	1	B;B	0.30851	0.226;0.297	B;B	0.26310	0.068;0.022	T	0.03086	-1.1074	10	0.08381	T	0.77	-11.4125	12.8981	0.58111	0.2028:0.7972:0.0:0.0	.	299;283	Q9NRG4;Q05C86	SMYD2_HUMAN;.	S	299;18	ENSP00000355924:R299S	ENSP00000355924:R299S	R	+	1	0	SMYD2	212570994	0.995000	0.38212	0.997000	0.53966	0.997000	0.91878	3.253000	0.51469	2.760000	0.94817	0.655000	0.94253	CGC	SMYD2	-	NULL	ENSG00000143499		0.507	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD2	HGNC	protein_coding	OTTHUMT00000089998.1		0	29	0	C	NM_020197		214504371	1			no_errors	ENST00000366957	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	214504371	C	A	214504371	3	1	137	1	0	0	0	0	1	0	0	0	14867	536	19	2	929	2	SMYD2	1	214504371	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	7260624	214504371	34746250	21	34939											
ZNF678	339500	genome.wustl.edu	37	chr1	227842420	227842420	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccctacaaatgtgacGaatgtggcaaagtttttaat	16	11	8	6	1	0	2	0	1	0	1	0	3	0	2	1	1	2	2	1	1	6	4	rs368224195		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:227842420G>T	ENST00000343776.5	+	4	814	c.469G>T	c.(469-471)Gaa>Taa	p.E157*	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.E212*	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	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)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CAAATGTGACGAATGTGGCAA	0.343																																																	0													63	74	71					1																	227842420		2201	4299	6500	SO:0001587	stop_gained	0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.469G>T	1.37:g.227842420G>T	ENSP00000344828:p.Glu157*		Q8IVQ9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E212*	ENST00000343776.5	37	c.634		1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305681	0.23736	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	.	.	.	1.34	1.34	0.21922	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	8.5465	0.33424	0.0:0.0:1.0:0.0	.	.	.	.	X	157;212;212	.	ENSP00000344828:E157X	E	+	1	0	ZNF678	225909043	0.000000	0.05858	0.010000	0.14722	0.009000	0.06853	0.243000	0.18106	0.596000	0.29794	0.603000	0.83216	GAA	ZNF678	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181450		0.343	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	-	0	9	0	G	NM_178549		227842420	1	tier1	-	no_errors	ENST00000397097	ensembl	human	known	74_37	nonsense	40.00	12	8	SNP	0.306	T	T	227842420	G	T	227842420	4	4	137	1	0	0	0	0	0	1	0	0	18133	1059	37	2	648	2	ZNF678	1	227842420	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	13338049	227842420	21408201	22	34940											
C1orf124	83932	genome.wustl.edu	37	chr1	231489015	231489015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggttaattgcccagtttgtCagaatgaagttctggagtct	9	15	11	6	0	3	2	1	1	2	1	3	3	3	3	1	2	1	3	1	2	3	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:231489015C>G	ENST00000295050.7	+	5	1714	c.1378C>G	c.(1378-1380)Cag>Gag	p.Q460E		NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	460					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										CCCAGTTTGTCAGAATGAAGT	0.403																																																	0													55	52	53					1																	231489015		2203	4300	6503	SO:0001583	missense	0			AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"SprT-like domain at the N terminus", "DNA damage-targeting VCP (p97) adaptor"		"chromosome 1 open reading frame 124"	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.1378C>G	1.37:g.231489015C>G	ENSP00000295050:p.Gln460Glu		B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put	p.Q460E	ENST00000295050.7	37	c.1378	CCDS1594.1	1	.	.	.	.	.	.	.	.	.	.	C	9.486	1.099414	0.20552	.	.	ENSG00000010072	ENST00000295050	T	0.46063	0.88	6.04	4.16	0.48862	Zinc finger, Rad18-type putative (1);	0.548610	0.20540	N	0.090321	T	0.34629	0.0904	M	0.64997	1.995	0.80722	D	1	B	0.21381	0.055	B	0.16289	0.015	T	0.17471	-1.0368	10	0.02654	T	1	-3.5527	11.3359	0.49503	0.0:0.5863:0.3497:0.064	.	460	Q9H040	CA124_HUMAN	E	460	ENSP00000295050:Q460E	ENSP00000295050:Q460E	Q	+	1	0	C1orf124	229555638	1.000000	0.71417	0.492000	0.27490	0.143000	0.21401	2.710000	0.47169	0.878000	0.35920	-0.189000	0.12847	CAG	SPRTN	-	smart_Znf_Rad18_put	ENSG00000010072		0.403	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRTN	HGNC	protein_coding	OTTHUMT00000092858.1	-	0	32	0	C	NM_032018		231489015	1	tier1	-	no_errors	ENST00000295050	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.940	G	G	231489015	C	G	231489015	3	3	137	1	0	0	0	0	1	0	0	0	1999	827	29	5	1431	5	C1orf124	1	231489015	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	3646595	231489015	17761606	23	34941											
AHCTF1	25909	genome.wustl.edu	37	chr1	247076573	247076573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgattgcatgacaagtcatCcaaacataggtcaacaagaa	17	9	7	8	0	2	3	2	2	0	1	3	3	3	3	1	1	3	1	1	1	6	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:247076573C>G	ENST00000391829.2	-	4	640	c.517G>C	c.(517-519)Gat>Cat	p.D173H	AHCTF1_ENST00000366508.1_Missense_Mutation_p.D208H|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D182H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	173	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)			GACAAGTCATCCAAACATAGG	0.408																																					Colon(145;197 1800 4745 15099 26333)												0													76	71	73					1																	247076573		2203	4300	6503	SO:0001583	missense	0				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.517G>C	1.37:g.247076573C>G	ENSP00000375705:p.Asp173His		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.D182H	ENST00000391829.2	37	c.544		1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594900	0.86953	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.22336	1.96;1.96;1.96	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.49093	-0.8975	10	0.72032	D	0.01	-24.7628	19.169	0.93569	0.0:1.0:0.0:0.0	.	208;173	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	H	208;182;173	ENSP00000355464:D208H;ENSP00000355465:D182H;ENSP00000375705:D173H	ENSP00000355465:D182H	D	-	1	0	AHCTF1	245143196	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.466000	0.80914	2.607000	0.88179	0.655000	0.94253	GAT	AHCTF1	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000153207		0.408	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		-	0	91	0	C	NM_015446		247076573	-1	tier1	-	no_errors	ENST00000326225	ensembl	human	known	74_37	missense	31.76	58	27	SNP	1.000	G	G	247076573	C	G	247076573	3	3	137	1	0	0	0	0	1	0	0	0	408	855	30	5	6415	5	AHCTF1	1	247076573	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	15587558	247076573	2174048	24	34942			1	40		2	2	13	C		9.45794e-05
AHCTF1	25909	genome.wustl.edu	37	chr1	247076585	247076585	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtcatccaaacataggtCaacaagaaggatctgtccaa	17	7	7	10	0	3	1	2	0	1	1	5	2	5	2	2	2	2	0	2	2	7	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:247076585C>G	ENST00000391829.2	-	4	628	c.505G>C	c.(505-507)Gac>Cac	p.D169H	AHCTF1_ENST00000366508.1_Missense_Mutation_p.D204H|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D178H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	169	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)			AAACATAGGTCAACAAGAAGG	0.438																																					Colon(145;197 1800 4745 15099 26333)												0													80	75	77					1																	247076585		2203	4300	6503	SO:0001583	missense	0				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.505G>C	1.37:g.247076585C>G	ENSP00000375705:p.Asp169His		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.D178H	ENST00000391829.2	37	c.532		1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274537	0.80580	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.23147	1.92;1.92;1.92	5.38	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.50086	0.1595	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55250	-0.8170	10	0.87932	D	0	-16.5173	14.3804	0.66907	0.0:0.9286:0.0:0.0714	.	204;169	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	H	204;178;169	ENSP00000355464:D204H;ENSP00000355465:D178H;ENSP00000375705:D169H	ENSP00000355465:D178H	D	-	1	0	AHCTF1	245143208	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.466000	0.80914	1.411000	0.46957	0.655000	0.94253	GAC	AHCTF1	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000153207		0.438	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		-	0	87	0	C	NM_015446		247076585	-1	tier1	-	no_errors	ENST00000326225	ensembl	human	known	74_37	missense	27.03	53	20	SNP	1.000	G	G	247076585	C	G	247076585	3	3	137	1	0	0	0	0	1	0	0	0	408	826	29	5	6427	5	AHCTF1	1	247076585	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	12	247076585	2174036	25	34943			1	40		2	2	13	C		9.45794e-05
OR2G2	81470	genome.wustl.edu	37	chr1	247752347	247752347	+	Nonsense_Mutation	SNP	T	T	A	0	1	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	ctacattgcccacgcagtgtTgaggattaagtcagctacca	11	10	9	11	1	1	1	1	1	0	0	1	2	1	2	2	1	4	3	2	1	3	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:247752347T>A	ENST00000320065.1	+	1	686	c.686T>A	c.(685-687)tTg>tAg	p.L229*	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACGCAGTGTTGAGGATTAAG	0.473																																																	0													154	145	148					1																	247752347		2203	4300	6503	SO:0001587	stop_gained	0			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.686T>A	1.37:g.247752347T>A	ENSP00000326349:p.Leu229*		Q5JQT2|Q6IEZ0	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L229*	ENST00000320065.1	37	c.686	CCDS31092.1	1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126836	0.37533	.	.	ENSG00000177489	ENST00000320065	.	.	.	4.29	4.29	0.51040	.	0.000000	0.29884	U	0.010954	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4683	0.50252	0.0:0.0:0.0:1.0	.	.	.	.	X	229	.	ENSP00000326349:L229X	L	+	2	0	OR2G2	245818970	0.003000	0.15002	0.021000	0.16686	0.043000	0.13939	1.462000	0.35266	1.789000	0.52484	0.481000	0.45027	TTG	OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177489		0.473	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	-	0	67	0	T			247752347	1	tier1	-	no_errors	ENST00000320065	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	0.035	A	A	247752347	T	A	247752347	4	1	137	1	0	0	0	0	0	1	0	0	11037	1821	63	5	688	5	OR2G2	1	247752347	Nonsense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	675762	247752347	1498274	26	34944											
OR2L13	284521	genome.wustl.edu	37	chr1	248262873	248262873	+	Missense_Mutation	SNP	T	T	C	0	1	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	actttcttctcagccagctcTcccttatggacctgatgtac	7	14	6	14	0	3	1	1	1	3	0	5	2	3	2	3	1	3	2	3	1	2	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr1:248262873T>C	ENST00000358120.2	+	2	341	c.196T>C	c.(196-198)Tcc>Ccc	p.S66P	OR2L13_ENST00000366478.2_Missense_Mutation_p.S66P			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	66						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)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CAGCCAGCTCTCCCTTATGGA	0.542																																																	0													239	217	225					1																	248262873		2203	4300	6503	SO:0001583	missense	0			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.196T>C	1.37:g.248262873T>C	ENSP00000350836:p.Ser66Pro		Q5VUR5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S66P	ENST00000358120.2	37	c.196	CCDS1637.1	1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284644	0.59867	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.12361	2.69;2.69	4.07	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000586	T	0.46698	0.1406	H	0.95850	3.73	0.24208	N	0.995481	D	0.76494	0.999	D	0.80764	0.994	T	0.46555	-0.9183	10	0.87932	D	0	.	10.5578	0.45127	0.0:0.0:0.2867:0.7133	.	66	Q8N349	OR2LD_HUMAN	P	66	ENSP00000355434:S66P;ENSP00000350836:S66P	ENSP00000350836:S66P	S	+	1	0	OR2L13	246329496	0.010000	0.17322	1.000000	0.80357	0.991000	0.79684	0.011000	0.13264	1.688000	0.51068	0.528000	0.53228	TCC	OR2L13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196071		0.542	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L13	HGNC	protein_coding	OTTHUMT00000097342.1	-	0	55	0	T	NM_175911		248262873	1	tier1	-	no_errors	ENST00000358120	ensembl	human	known	74_37	missense	30.77	45	20	SNP	0.775	C	C	248262873	T	C	248262873	3	2	137	1	0	0	0	0	1	0	0	0	11045	1551	54	4	198	4	OR2L13	1	248262873	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	510526	248262873	987748	27	34945											
RNF144A	9781	genome.wustl.edu	37	chr2	7160801	7160801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgatcaccttcctccccGgggagaccaggtaccctttg	6	9	10	16	2	1	1	1	0	0	1	3	3	3	1	7	3	2	1	7	3	1	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:7160801G>C	ENST00000320892.6	+	6	941	c.499G>C	c.(499-501)Ggg>Cgg	p.G167R	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	167					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G167R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CTTCCTCCCCGGGGAGACCAG	0.587																																																	1	Substitution - Missense(1)	breast(1)											64	68	66					2																	7160801		2203	4300	6503	SO:0001583	missense	0			D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.499G>C	2.37:g.7160801G>C	ENSP00000321330:p.Gly167Arg		D6W4Y6|Q585H5	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING	p.G167R	ENST00000320892.6	37	c.499	CCDS1657.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737452	0.89482	.	.	ENSG00000151692	ENST00000320892;ENST00000427092	T	0.22743	1.94	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03576	-1.1023	10	0.33940	T	0.23	.	19.5896	0.95503	0.0:0.0:1.0:0.0	.	167	P50876	R144A_HUMAN	R	167	ENSP00000321330:G167R	ENSP00000321330:G167R	G	+	1	0	RNF144A	7078252	1.000000	0.71417	0.974000	0.42286	0.875000	0.50365	9.222000	0.95196	2.706000	0.92434	0.561000	0.74099	GGG	RNF144A	-	NULL	ENSG00000151692		0.587	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF144A	HGNC	protein_coding	OTTHUMT00000206725.2		0	29	0	G	NM_014746		7160801	1			no_errors	ENST00000320892	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	C	C	7160801	G	C	7160801	3	2	137	1	0	0	0	0	1	0	0	0	13490	1116	39	5	513	5	RNF144A	2	7160801	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09		7160801	236038572	28	34946											
NLRC4	58484	genome.wustl.edu	37	chr2	32476497	32476497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctccacgcggtgatGgtgttggtccttcctccaca	5	11	11	14	2	0	1	0	1	0	0	4	1	4	1	4	3	2	3	4	3	0	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:32476497G>T	ENST00000404025.2	-	5	924	c.436C>A	c.(436-438)Cat>Aat	p.H146N	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.H146N|NLRC4_ENST00000402280.1_Missense_Mutation_p.H146N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	146	Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACGCGGTGATGGTGTTGGTCC	0.488																																																	0													68	64	65					2																	32476497		2203	4300	6503	SO:0001583	missense	0			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.436C>A	2.37:g.32476497G>T	ENSP00000385090:p.His146Asn		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD	p.H146N	ENST00000404025.2	37	c.436	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.368365	0.01225	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.20598	2.06;2.06;2.06	3.46	3.46	0.39613	.	0.126842	0.32687	N	0.005771	T	0.10680	0.0261	N	0.17082	0.46	0.29704	N	0.839939	B	0.11235	0.004	B	0.06405	0.002	T	0.15867	-1.0422	9	0.08599	T	0.76	-9.9917	10.2511	0.43370	0.0:0.0:0.8012:0.1988	.	146	Q9NPP4	NLRC4_HUMAN	N	146	ENSP00000354159:H146N;ENSP00000385428:H146N;ENSP00000385090:H146N	ENSP00000354159:H146N	H	-	1	0	NLRC4	32330001	0.968000	0.33430	0.679000	0.29978	0.545000	0.35147	2.483000	0.45233	1.939000	0.56221	0.543000	0.68304	CAT	NLRC4	-	superfamily_P-loop_NTPase	ENSG00000091106		0.488	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	-	0	17	0	G	NM_021209		32476497	-1	tier1	-	no_errors	ENST00000360906	ensembl	human	known	74_37	missense	32.35	23	11	SNP	0.030	T	T	32476497	G	T	32476497	3	4	137	1	0	0	0	0	1	0	0	0	10508	1348	47	3	2662	3	NLRC4	2	32476497	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	25315696	32476497	210722876	29	34947											
BIRC6	57448	genome.wustl.edu	37	chr2	32693623	32693623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagataaggcagttgaggaaGacagtagggttttttctgct	11	12	13	5	0	1	3	0	1	1	2	1	4	1	4	0	3	1	5	0	3	3	6			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:32693623G>C	ENST00000421745.2	+	29	6033	c.5899G>C	c.(5899-5901)Gac>Cac	p.D1967H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1967					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)					AGTTGAGGAAGACAGTAGGGT	0.418																																					Pancreas(94;175 1509 16028 18060 45422)												0													113	111	112					2																	32693623		2203	4300	6503	SO:0001583	missense	0			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.5899G>C	2.37:g.32693623G>C	ENSP00000393596:p.Asp1967His		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.D1967H	ENST00000421745.2	37	c.5899	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911003	0.52439	.	.	ENSG00000115760	ENST00000421745	T	0.75260	-0.92	5.68	5.68	0.88126	.	0.055106	0.64402	D	0.000001	D	0.82545	0.5060	L	0.42245	1.32	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.80039	-0.1549	10	0.36615	T	0.2	.	19.8568	0.96762	0.0:0.0:1.0:0.0	.	1967	Q9NR09	BIRC6_HUMAN	H	1967	ENSP00000393596:D1967H	ENSP00000393596:D1967H	D	+	1	0	BIRC6	32547127	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.869000	0.99810	2.691000	0.91804	0.644000	0.83932	GAC	BIRC6	-	NULL	ENSG00000115760		0.418	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0	68	0	G	NM_016252		32693623	1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	21.35	70	19	SNP	1.000	C	C	32693623	G	C	32693623	3	2	137	1	0	0	0	0	1	0	0	0	1440	942	33	5	6013	5	BIRC6	2	32693623	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	217126	32693623	210505750	30	34948											
SOS1	6654	genome.wustl.edu	37	chr2	39237798	39237798	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagagttaatttctttgtCttcttttgtccacacacttc	8	18	6	9	0	3	1	0	0	3	1	5	2	4	1	1	1	0	1	1	1	1	7			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:39237798C>G	ENST00000426016.1	-	16	2523	c.2437G>C	c.(2437-2439)Gac>Cac	p.D813H	SOS1_ENST00000395038.2_Missense_Mutation_p.D813H|SOS1_ENST00000402219.2_Missense_Mutation_p.D813H			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	813	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)				ATTTCTTTGTCTTCTTTTGTC	0.333									Noonan syndrome																																								0													131	125	127					2																	39237798		2203	4300	6503	SO:0001583	missense	0	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.2437G>C	2.37:g.39237798C>G	ENSP00000387784:p.Asp813His		A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D813H	ENST00000426016.1	37	c.2437	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828490	0.90955	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.33654	1.4;1.4;1.4	5.61	5.61	0.85477	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.117157	0.64402	D	0.000017	T	0.65375	0.2685	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68903	-0.5286	10	0.87932	D	0	.	19.6879	0.95987	0.0:1.0:0.0:0.0	.	813	Q07889	SOS1_HUMAN	H	813;813;545;813;813	ENSP00000387784:D813H;ENSP00000384675:D813H;ENSP00000378479:D813H	ENSP00000263879:D813H	D	-	1	0	SOS1	39091302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.707000	0.84623	2.629000	0.89072	0.549000	0.68633	GAC	SOS1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000115904		0.333	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	-	0	116	0	C	NM_005633		39237798	-1	tier1	-	no_errors	ENST00000402219	ensembl	human	known	74_37	missense	16.81	94	19	SNP	1.000	G	G	39237798	C	G	39237798	3	3	137	1	0	0	0	0	1	0	0	0	14981	913	32	5	1600	5	SOS1	2	39237798	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	6544175	39237798	203961575	31	34949											
PLEKHH2	130271	genome.wustl.edu	37	chr2	43927283	43927283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatttcaatcccagagactcGattattcatcttcatcgagt	12	14	5	10	2	4	1	3	0	1	1	7	4	5	1	1	0	0	0	1	0	3	4	rs146556619		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:43927283G>A	ENST00000282406.4	+	8	1296	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	396					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.D396N(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)				CCAGAGACTCGATTATTCATC	0.393																																																	1	Substitution - Missense(1)	pancreas(1)											70	67	68					2																	43927283		2203	4300	6503	SO:0001583	missense	0			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.1186G>A	2.37:g.43927283G>A	ENSP00000282406:p.Asp396Asn		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.D396N	ENST00000282406.4	37	c.1186	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757236	0.89843	.	.	ENSG00000152527	ENST00000282406	T	0.76839	-1.05	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.83986	0.5373	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.97110	0.9;1.0	T	0.81782	-0.0775	10	0.36615	T	0.2	-9.8304	20.0655	0.97703	0.0:0.0:1.0:0.0	.	396;396	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	N	396	ENSP00000282406:D396N	ENSP00000282406:D396N	D	+	1	0	PLEKHH2	43780787	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	6.060000	0.71141	2.753000	0.94483	0.563000	0.77884	GAT	PLEKHH2	-	NULL	ENSG00000152527		0.393	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1		0	24	0	G	NM_172069		43927283	1			no_errors	ENST00000282406	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	A	A	43927283	G	A	43927283	3	1	137	1	0	0	0	0	1	0	0	0	12116	1058	37	1	1212	1	PLEKHH2	2	43927283	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	4689485	43927283	199272090	32	34950											
ANXA4	307	genome.wustl.edu	37	chr2	70033541	70033541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatagacgacctgaagtcaGaactgagtggcaacttcgag	13	8	12	8	2	1	5	1	3	0	2	2	7	1	5	1	1	2	1	1	1	4	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:70033541G>A	ENST00000394295.4	+	5	465	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ANXA4_ENST00000409920.1_Missense_Mutation_p.E73K|ANXA4_ENST00000536030.1_5'UTR	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	71					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCTGAAGTCAGAACTGAGTGG	0.522																																																	0													163	127	139					2																	70033541		2203	4300	6503	SO:0001583	missense	0			M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"Annexins"	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.217G>A	2.37:g.70033541G>A	ENSP00000377833:p.Glu73Lys		B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV	p.E73K	ENST00000394295.4	37	c.217	CCDS1894.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107199	0.77096	.	.	ENSG00000196975	ENST00000409920;ENST00000394295	T;T	0.04862	3.54;3.54	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.25293	-1.0136	9	.	.	.	.	15.8659	0.79063	0.0:0.0:1.0:0.0	.	73;73	Q6P452;Q6LES2	.;.	K	73	ENSP00000386756:E73K;ENSP00000377833:E73K	.	E	+	1	0	ANXA4	69887045	1.000000	0.71417	0.965000	0.40720	0.263000	0.26337	7.725000	0.84808	2.414000	0.81942	0.555000	0.69702	GAA	ANXA4	-	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin	ENSG00000196975		0.522	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA4	HGNC	protein_coding	OTTHUMT00000251848.2	-	0	32	0	G	NM_001153		70033541	1	tier1	-	no_errors	ENST00000394295	ensembl	human	known	74_37	missense	35.85	34	19	SNP	0.998	A	A	70033541	G	A	70033541	3	1	137	1	0	0	0	0	1	0	0	0	720	943	33	3	231	3	ANXA4	2	70033541	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	26106258	70033541	173165832	33	34951											
AFF3	3899	genome.wustl.edu	37	chr2	100203676	100203676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactggtggaggtggccagtCttgaagagctgtctttctct	6	14	13	8	0	3	2	0	1	3	1	4	3	3	3	1	4	2	1	1	4	2	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:100203676C>G	ENST00000409236.2	-	14	2643	c.2531G>C	c.(2530-2532)aGa>aCa	p.R844T	AFF3_ENST00000409579.1_Missense_Mutation_p.R869T|AFF3_ENST00000356421.2_Missense_Mutation_p.R869T|AFF3_ENST00000317233.4_Missense_Mutation_p.R844T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	844					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						GGTGGCCAGTCTTGAAGAGCT	0.473																																																	0													311	266	281					2																	100203676		2203	4300	6503	SO:0001583	missense	0			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.2531G>C	2.37:g.100203676C>G	ENSP00000387207:p.Arg844Thr		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.R869T	ENST00000409236.2	37	c.2606	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302452	0.23736	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.92	5.92	0.95590	.	0.000000	0.50627	D	0.000112	T	0.64659	0.2618	L	0.27053	0.805	0.09310	N	0.999998	D;B;D	0.76494	0.999;0.144;0.996	D;B;P	0.72338	0.977;0.063;0.9	T	0.55630	-0.8111	10	0.15066	T	0.55	.	12.7667	0.57396	0.0:0.9252:0.0:0.0748	.	997;844;869	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	T	844;869;869;844;844;997	ENSP00000317421:R844T;ENSP00000348793:R869T;ENSP00000386834:R869T;ENSP00000387207:R844T	ENSP00000317421:R844T	R	-	2	0	AFF3	99570108	0.838000	0.29461	0.012000	0.15200	0.881000	0.50899	2.505000	0.45424	2.804000	0.96469	0.655000	0.94253	AGA	AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.473	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	-	0	118	0	C	NM_002285		100203676	-1	tier1	-	no_errors	ENST00000356421	ensembl	human	known	74_37	missense	27.87	88	34	SNP	0.053	G	G	100203676	C	G	100203676	3	3	137	1	0	0	0	0	1	0	0	0	358	913	32	5	1189	5	AFF3	2	100203676	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	30170135	100203676	142995697	34	34952											
IL1R1	3554	genome.wustl.edu	37	chr2	102781461	102781461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaggacattactattgcGtggtaaggtaagagaggaat	14	11	12	4	1	1	1	1	0	0	1	1	4	1	3	0	4	2	2	0	4	5	6			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:102781461G>A	ENST00000410023.1	+	4	607	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	IL1R1_ENST00000233946.3_Missense_Mutation_p.V97M|IL1R1_ENST00000409329.1_Missense_Mutation_p.V97M|IL1R1_ENST00000424272.1_Missense_Mutation_p.V97M|IL1R1_ENST00000409288.1_Missense_Mutation_p.V97M|IL1R1_ENST00000409929.1_Missense_Mutation_p.V97M|IL1R1_ENST00000409589.1_Missense_Mutation_p.V97M			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	97	Ig-like C2-type 1.				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)	TTACTATTGCGTGGTAAGGTA	0.373																																																	0													102	93	96					2																	102781461		2203	4300	6503	SO:0001583	missense	0			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.289G>A	2.37:g.102781461G>A	ENSP00000386380:p.Val97Met		Q587I7	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I-typ,prints_IL-1_rcpt_I/II-typ	p.V97M	ENST00000410023.1	37	c.289	CCDS2055.1	2	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004920	0.35415	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409589;ENST00000409329;ENST00000450319;ENST00000442590;ENST00000409288;ENST00000410023;ENST00000233946;ENST00000430171	T;T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;0.35;-0.35;-0.35;0.35;-0.35;-0.35;-0.35;0.35	5.63	-2.16	0.07080	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.973700	0.01746	N	0.029656	T	0.72439	0.3460	L	0.47016	1.485	0.09310	N	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;P	0.67725	0.953;0.749;0.84	T	0.58244	-0.7670	9	.	.	.	.	3.8982	0.09149	0.2871:0.0:0.3591:0.3538	.	97;97;97	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	M	97	ENSP00000386776:V97M;ENSP00000415366:V97M;ENSP00000386555:V97M;ENSP00000387131:V97M;ENSP00000411627:V97M;ENSP00000393296:V97M;ENSP00000386478:V97M;ENSP00000386380:V97M;ENSP00000233946:V97M;ENSP00000408101:V97M	.	V	+	1	0	IL1R1	102147893	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.916000	0.04029	-0.676000	0.05238	0.655000	0.94253	GTG	IL1R1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ	ENSG00000115594		0.373	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R1	HGNC	protein_coding	OTTHUMT00000253299.1	-	0	84	0	G			102781461	1	tier1	-	no_errors	ENST00000233946	ensembl	human	known	74_37	missense	30.00	56	24	SNP	0.003	A	A	102781461	G	A	102781461	3	1	137	1	0	0	0	0	1	0	0	0	7685	1145	40	1	295	1	IL1R1	2	102781461	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	2577785	102781461	140417912	35	34953											
MYO7B	4648	genome.wustl.edu	37	chr2	128324310	128324310	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctctactacagccgccaTatgggcgagctgcccccgca	8	6	10	17	3	1	0	0	0	1	0	1	1	1	0	4	1	6	3	4	1	3	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:128324310T>G	ENST00000409816.2	+	4	410	c.378T>G	c.(376-378)caT>caG	p.H126Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.H126Q|MYO7B_ENST00000389524.4_Missense_Mutation_p.H126Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	126	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)		ACAGCCGCCATATGGGCGAGC	0.582																																																	0													37	42	40					2																	128324310		2038	4189	6227	SO:0001583	missense	0				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.378T>G	2.37:g.128324310T>G	ENSP00000386461:p.His126Gln		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.H126Q	ENST00000409816.2	37	c.378	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	T	7.794	0.712093	0.15306	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.86865	-2.18;-2.18;-2.18	5.55	-11.1	0.00147	Myosin head, motor domain (2);	0.151373	0.41823	N	0.000801	T	0.65270	0.2675	N	0.20328	0.56	0.09310	N	1	B	0.32128	0.357	B	0.24006	0.05	T	0.54833	-0.8234	10	0.33940	T	0.23	.	7.9176	0.29827	0.0619:0.1857:0.1778:0.5746	.	126	Q6PIF6	MYO7B_HUMAN	Q	126	ENSP00000374175:H126Q;ENSP00000415090:H126Q;ENSP00000386461:H126Q	ENSP00000374175:H126Q	H	+	3	2	MYO7B	128040780	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-2.723000	0.00810	-2.624000	0.00438	-2.167000	0.00324	CAT	MYO7B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000169994		0.582	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	-	0	22	0	T	XM_291001		128324310	1	tier1	-	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	38.10	13	8	SNP	0.000	G	G	128324310	T	G	128324310	3	3	137	1	0	0	0	0	1	0	0	0	10121	1403	49	4	392	4	MYO7B	2	128324310	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	25542849	128324310	114875063	36	34954											
FAM123C	205147	genome.wustl.edu	37	chr2	131520638	131520638	+	Frame_Shift_Del	DEL	C	C	-																															ctaggcccgtggctttcaggCccccaggggacagacaggga																										TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:131520638delC	ENST00000423981.1	+	2	1103	c.993delC	c.(991-993)ggcfs	p.G331fs	AMER3_ENST00000321420.4_Frame_Shift_Del_p.G331fs	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	331					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GGCTTTCAGGCCCCCAGGGGA	0.657																																																	0													35	41	39					2																	131520638		2203	4300	6503	SO:0001589	frameshift_variant	0			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.993delC	2.37:g.131520638delC	ENSP00000392700:p.Gly331fs		B7ZLH6	Frame_Shift_Del	DEL	pfam_Uncharacterised_FAM123	p.Q333fs	ENST00000423981.1	37	c.993	CCDS2164.1	2																																																																																			AMER3	-	pfam_Uncharacterised_FAM123	ENSG00000178171		0.657	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	HGNC	protein_coding	OTTHUMT00000254531.3		0	49	0	C	NM_152698		131520638	1	tier1		no_errors	ENST00000321420	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	0.000	-	-	131520638	C	-	131520638	7	5	137	1	0	1	0	1	0	0	0	0	5443	726	26	0	995	0	FAM123C	2	131520638	Frame_Shift_Del	DEL	C	TCGA-Q9-A6FU-01A-11D-A31U-09	3196328	131520638	111678735	37	34955											
DFNB59	494513	genome.wustl.edu	37	chr2	179325074	179325074	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaacaattttttttgtaGacctttgtgtcacttcagtg	8	20	6	7	0	3	1	2	0	1	1	3	1	3	1	1	0	1	1	1	0	3	9	rs34458034		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:179325074G>A	ENST00000409117.3	+	6	1023		c.e6-1		DFNB59_ENST00000375129.4_Splice_Site	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59						sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTTTTTTGTAGACCTTTGTGT	0.318																																																	0													72	66	68					2																	179325074		1815	4075	5890	SO:0001630	splice_region_variant	0			BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.668-1G>A	2.37:g.179325074G>A			A0PK14|B9EJE2	Splice_Site	SNP	-	e5-1	ENST00000409117.3	37	c.668-1	CCDS42787.1	2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400528	0.83120	.	.	ENSG00000204311	ENST00000409117;ENST00000375129;ENST00000442710	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2497	0.93919	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DFNB59	179033320	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.955000	0.87856	2.647000	0.89833	0.462000	0.41574	.	DFNB59	-	-	ENSG00000204311		0.318	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB59	HGNC	protein_coding	OTTHUMT00000335160.1	-	0	46	0	G		Intron	179325074	1	tier1	-	no_errors	ENST00000375129	ensembl	human	known	74_37	splice_site	34.04	31	16	SNP	1.000	A	A	179325074	G	A	179325074	5	1	137	1	0	0	0	0	0	0	1	0	4470	956	33	3	685	3	DFNB59	2	179325074	Splice_Site	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	47804436	179325074	63874299	38	34956											
TTN	7273	genome.wustl.edu	37	chr2	179397665	179397665	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatgggcacgaactgcttGatgcgttggtcttcttctat	7	14	11	9	2	3	1	0	1	3	0	3	3	3	1	0	2	3	3	0	2	2	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:179397665G>C	ENST00000591111.1	-	308	98978	c.98754C>G	c.(98752-98754)atC>atG	p.I32918M	TTN_ENST00000359218.5_Missense_Mutation_p.I25619M|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I25494M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I25686M|TTN_ENST00000342992.6_Missense_Mutation_p.I31991M|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I34559M|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32918					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)			CGAACTGCTTGATGCGTTGGT	0.438																																																	0													131	132	132					2																	179397665		2054	4202	6256	SO:0001583	missense	0			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.98754C>G	2.37:g.179397665G>C	ENSP00000465570:p.Ile32918Met		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I31991M	ENST00000591111.1	37	c.95973		2	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514124	0.27123	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70164	-0.46;-0.24;-0.26;-0.27	5.94	-8.0	0.01126	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.63546	0.2520	N	0.19112	0.55	0.38327	D	0.943693	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.74343	-0.3696	9	0.87932	D	0	.	12.0388	0.53442	0.386:0.0:0.5294:0.0845	.	25494;25619;25686;32918	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	31991;25494;25686;25619;25491	ENSP00000343764:I31991M;ENSP00000434586:I25494M;ENSP00000340554:I25686M;ENSP00000352154:I25619M	ENSP00000340554:I25686M	I	-	3	3	TTN	179105911	0.526000	0.26298	0.897000	0.35233	0.634000	0.38068	-0.110000	0.10824	-1.004000	0.03421	-0.367000	0.07326	ATC	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	37	0	G	NM_133378		179397665	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.851	C	C	179397665	G	C	179397665	3	2	137	1	0	0	0	0	1	0	0	0	16784	1280	45	5	4322	5	TTN	2	179397665	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	72591	179397665	63801708	39	34957											
TTN	7273	genome.wustl.edu	37	chr2	179441051	179441051	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gacatagccagtgatttcaaGtccaccatcataatgaggct	13	10	8	10	0	2	2	2	2	0	0	3	3	3	2	3	1	1	1	3	1	3	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr2:179441051G>A	ENST00000591111.1	-	276	65109	c.64885C>T	c.(64885-64887)Ctt>Ttt	p.L21629F	TTN_ENST00000359218.5_Missense_Mutation_p.L14330F|TTN_ENST00000460472.2_Missense_Mutation_p.L14205F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L14397F|TTN_ENST00000342992.6_Missense_Mutation_p.L20702F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L23270F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21629	Fibronectin type-III 57. {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)			GTGATTTCAAGTCCACCATCA	0.473																																																	0													67	64	65					2																	179441051		1924	4135	6059	SO:0001583	missense	0			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.64885C>T	2.37:g.179441051G>A	ENSP00000465570:p.Leu21629Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L20702F	ENST00000591111.1	37	c.62104		2	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469569	0.26423	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.87	4.99	0.66335	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69450	0.3112	M	0.64997	1.995	0.49798	D	0.999828	D;D;D;D	0.69078	0.997;0.997;0.997;0.994	D;D;D;D	0.68039	0.955;0.955;0.955;0.936	T	0.73672	-0.3909	9	0.87932	D	0	.	16.605	0.84826	0.0:0.0:0.8691:0.1309	.	14205;14330;14397;21629	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	20702;14205;14397;14330;14203	ENSP00000343764:L20702F;ENSP00000434586:L14205F;ENSP00000340554:L14397F;ENSP00000352154:L14330F	ENSP00000340554:L14397F	L	-	1	0	TTN	179149297	1.000000	0.71417	0.998000	0.56505	0.611000	0.37282	5.729000	0.68538	1.467000	0.48044	0.655000	0.94253	CTT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	11	0	G	NM_133378		179441051	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	30.00	7	3	SNP	1.000	A	A	179441051	G	A	179441051	3	1	137	1	0	0	0	0	1	0	0	0	16784	1029	36	3	38319	3	TTN	2	179441051	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	43386	179441051	63758322	40	34958											
STT3B	201595	genome.wustl.edu	37	chr3	31677544	31677544	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggcaagaaaatatctaaGaagactgtttaaatgcactg	19	9	8	5	0	1	3	0	0	1	3	1	3	1	3	0	1	1	3	0	1	9	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr3:31677544G>C	ENST00000295770.2	+	16	2678	c.2469G>C	c.(2467-2469)aaG>aaC	p.K823N		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	823					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						AAATATCTAAGAAGACTGTTT	0.363																																																	0													95	99	98					3																	31677544		2203	4300	6503	SO:0001583	missense	0			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.2469G>C	3.37:g.31677544G>C	ENSP00000295770:p.Lys823Asn		Q96JZ4|Q96KY7	Missense_Mutation	SNP	pfam_Oligo_trans_STT3	p.K823N	ENST00000295770.2	37	c.2469	CCDS2650.1	3	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694458	0.48202	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.24	5.24	0.73138	.	0.099263	0.64402	D	0.000001	T	0.53286	0.1787	N	0.22421	0.69	0.80722	D	1	B	0.24823	0.112	B	0.25140	0.058	T	0.52953	-0.8506	9	0.66056	D	0.02	-13.1559	19.7143	0.96108	0.0:0.0:1.0:0.0	.	823	Q8TCJ2	STT3B_HUMAN	N	823	.	ENSP00000295770:K823N	K	+	3	2	STT3B	31652548	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.593000	0.74100	2.831000	0.97527	0.650000	0.86243	AAG	STT3B	-	NULL	ENSG00000163527		0.363	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2	-	0	65	0	G	NM_178862		31677544	1	tier1	-	no_errors	ENST00000295770	ensembl	human	known	74_37	missense	9.52	55	6	SNP	1.000	C	C	31677544	G	C	31677544	3	2	137	1	0	0	0	0	1	0	0	0	15381	933	33	5	2531	5	STT3B	3	31677544	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09		31677544	166344886	41	34959											
SLC38A3	10991	genome.wustl.edu	37	chr3	50255369	50255369	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcatacaccatccccatCatggccttcgccttcgtctg	8	10	6	17	2	2	0	1	0	1	0	5	0	3	0	5	1	2	1	5	1	1	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr3:50255369C>G	ENST00000420502.1	+	0	1029									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)		CCATCCCCATCATGGCCTTCG	0.612																																																	0													73	80	77					3																	50255369		2155	4276	6431			0			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50255369C>G				RNA	SNP	-	NULL	ENST00000420502.1	37	NULL		3																																																																																			SLC38A3	-	-	ENSG00000188338		0.612	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	SLC38A3	HGNC	processed_transcript	OTTHUMT00000345635.2	-	0	33	0	C	NM_006841		50255369	1	tier1	-	no_errors	ENST00000414604	ensembl	human	known	74_37	rna	56.25	7	9	SNP	1.000	G	G	50255369	C	G	50255369	1	3	137	0	1	0	0	0	0	0	0	0	14650	816	29	5		5	SLC38A3	3	50255369	RNA	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	18577825	50255369	147767061	42	34960											
COL6A5	256076	genome.wustl.edu	37	chr3	130119967	130119967	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagattcgattacaggactCatctgactattggaatgaga	15	11	9	6	1	2	3	1	2	1	2	3	7	2	5	0	2	1	0	0	2	4	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr3:130119967C>G	ENST00000432398.2	+	11	4578	c.4084C>G	c.(4084-4086)Cat>Gat	p.H1362D	COL6A5_ENST00000265379.6_Missense_Mutation_p.H1362D	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1362	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						TTACAGGACTCATCTGACTAT	0.413																																																	0													157	135	142					3																	130119967		692	1591	2283	SO:0001583	missense	0			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.4084C>G	3.37:g.130119967C>G	ENSP00000390895:p.His1362Asp		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.H1362D	ENST00000432398.2	37	c.4084		3	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391153	0.25118	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.37235	1.21;1.21	5.41	5.41	0.78517	.	.	.	.	.	T	0.35189	0.0923	L	0.36672	1.1	0.27125	N	0.96203	B	0.31705	0.336	B	0.38225	0.268	T	0.20706	-1.0267	9	0.12430	T	0.62	.	17.9731	0.89119	0.0:1.0:0.0:0.0	.	1362	A8TX70-2	.	D	1362	ENSP00000390895:H1362D;ENSP00000265379:H1362D	ENSP00000265379:H1362D	H	+	1	0	COL6A5	131602657	1.000000	0.71417	0.993000	0.49108	0.073000	0.16967	3.635000	0.54309	2.547000	0.85894	0.561000	0.74099	CAT	COL6A5	-	NULL	ENSG00000172752		0.413	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	36	0	C	NM_153264		130119967	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.991	G	G	130119967	C	G	130119967	3	3	137	1	0	0	0	0	1	0	0	0	3709	826	29	5	4122	5	COL6A5	3	130119967	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	79864598	130119967	67902463	43	34961											
ATP2C1	27032	genome.wustl.edu	37	chr3	130694321	130694321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcacgcatgggctcagCgggactcagaggtaaggcta	11	5	16	9	2	2	1	2	0	0	1	2	3	2	2	0	5	1	5	0	5	3	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr3:130694321C>T	ENST00000510168.1	+	18	2109	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	ATP2C1_ENST00000328560.8_Missense_Mutation_p.A520V|ATP2C1_ENST00000508532.1_Missense_Mutation_p.A520V|ATP2C1_ENST00000422190.2_Missense_Mutation_p.A520V|ATP2C1_ENST00000513801.1_Missense_Mutation_p.A504V|ATP2C1_ENST00000393221.4_Missense_Mutation_p.A554V|ATP2C1_ENST00000533801.2_Missense_Mutation_p.A515V|ATP2C1_ENST00000504381.1_Missense_Mutation_p.A465V|ATP2C1_ENST00000507488.2_Missense_Mutation_p.A504V|ATP2C1_ENST00000428331.2_Missense_Mutation_p.A520V|ATP2C1_ENST00000359644.3_Missense_Mutation_p.A520V|ATP2C1_ENST00000504948.1_Missense_Mutation_p.A504V|ATP2C1_ENST00000505330.1_Missense_Mutation_p.A504V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	520					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGGGCTCAGCGGGACTCAGA	0.473									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)												0													93	82	86					3																	130694321		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1559C>T	3.37:g.130694321C>T	ENSP00000427461:p.Ala520Val		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.A554V	ENST00000510168.1	37	c.1661	CCDS46914.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007023|2.007023	0.35415|0.35415	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612;ENST00000508660	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.96774|.	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12|.	5.77|5.77	5.77|5.77	0.91146|0.91146	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.051659|.	0.85682|.	D|.	0.000000|.	T|T	0.71443|0.71443	0.3340|0.3340	L|L	0.52573|0.52573	1.65|1.65	0.51012|0.51012	D|D	0.999904|0.999904	P;P;P;P;P;P;P|.	0.39131|.	0.609;0.661;0.483;0.609;0.483;0.456;0.512|.	B;B;B;B;B;B;B|.	0.36534|.	0.145;0.227;0.166;0.103;0.227;0.103;0.166|.	T|T	0.66598|0.66598	-0.5883|-0.5883	10|5	0.46703|.	T|.	0.11|.	.|.	19.9795|19.9795	0.97321|0.97321	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	554;515;554;520;554;520;520|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	V|W	504;465;504;554;515;520;520;504;504;520;520;520;520;519|474;95	ENSP00000423774:A504V;ENSP00000425320:A465V;ENSP00000421326:A504V;ENSP00000376914:A554V;ENSP00000432956:A515V;ENSP00000427461:A520V;ENSP00000424783:A520V;ENSP00000423330:A504V;ENSP00000422872:A504V;ENSP00000329664:A520V;ENSP00000395809:A520V;ENSP00000352665:A520V;ENSP00000402677:A520V|.	ENSP00000329664:A520V|.	A|R	+|+	2|1	0|2	ATP2C1|ATP2C1	132177011|132177011	0.997000|0.997000	0.39634|0.39634	0.990000|0.990000	0.47175|0.47175	0.317000|0.317000	0.28152|0.28152	3.474000|3.474000	0.53129|0.53129	2.720000|2.720000	0.93068|0.93068	0.650000|0.650000	0.86243|0.86243	GCG|CGG	ATP2C1	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000017260		0.473	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	-	0	24	0	C	NM_001001486		130694321	1	tier1	-	no_errors	ENST00000393221	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	130694321	C	T	130694321	3	4	137	1	0	0	0	0	1	0	0	0	1144	768	27	1	1625	1	ATP2C1	3	130694321	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	574354	130694321	67328109	44	34962											
PLS1	5357	genome.wustl.edu	37	chr3	142383112	142383112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actactaccatttctcgggaGgagcttgaagaactacaaga	14	9	9	9	1	1	3	0	1	1	2	2	5	1	5	1	2	5	1	1	2	6	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr3:142383112G>A	ENST00000337777.3	+	2	246	c.33G>A	c.(31-33)gaG>gaA	p.E11E	PLS1_ENST00000497002.1_Silent_p.E11E|PLS1_ENST00000457734.2_Silent_p.E11E	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	11	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTTCTCGGGAGGAGCTTGAAG	0.338																																																	0													85	87	86					3																	142383112		2203	4300	6503	SO:0001819	synonymous_variant	0			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.33G>A	3.37:g.142383112G>A			A8K2Q1|D3DNG3|Q8NEG6	Silent	SNP	pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.E11	ENST00000337777.3	37	c.33	CCDS3125.1	3																																																																																			PLS1	-	pfscan_EF_hand_dom	ENSG00000120756		0.338	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	-	0	50	0	G	NM_002670		142383112	1	tier1	-	no_errors	ENST00000337777	ensembl	human	known	74_37	silent	13.54	82	13	SNP	1.000	A	A	142383112	G	A	142383112	2	1	137	1	0	0	0	0	0	0	0	1	12146	991	35	3		3	PLS1	3	142383112	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	11688791	142383112	55639318	45	34963											
P2RY12	64805	genome.wustl.edu	37	chr3	151056001	151056001	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtacagttcttttgtaatGagtgtataacatacaataac	14	14	7	6	1	1	1	0	1	1	0	1	1	1	1	0	1	4	4	0	1	7	9			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr3:151056001G>C	ENST00000302632.3	-	3	932	c.633C>G	c.(631-633)ctC>ctG	p.L211L	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	211					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CTTTTGTAATGAGTGTATAAC	0.348																																																	0													69	71	70					3																	151056001		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.633C>G	3.37:g.151056001G>C			D3DNJ5|Q546J7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt	p.L211	ENST00000302632.3	37	c.633	CCDS3159.1	3																																																																																			P2RY12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000169313		0.348	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY12	HGNC	protein_coding	OTTHUMT00000357796.1	-	0	74	0	G			151056001	-1	tier1	-	no_errors	ENST00000302632	ensembl	human	known	74_37	silent	47.01	62	55	SNP	0.932	C	C	151056001	G	C	151056001	2	2	137	1	0	0	0	0	0	0	0	1	11388	1277	45	5		5	P2RY12	3	151056001	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	8672889	151056001	46966429	46	34964											
SUCNR1	56670	genome.wustl.edu	37	chr3	151598485	151598485	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttacggctacatcttctctCtgaagaactggaacagcagt	11	12	8	10	1	3	2	0	1	3	1	4	3	3	3	0	2	5	2	0	2	5	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr3:151598485C>G	ENST00000362032.5	+	3	259	c.154C>G	c.(154-156)Ctg>Gtg	p.L52V	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	52						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CATCTTCTCTCTGAAGAACTG	0.428																																																	0													177	186	183					3																	151598485		2203	4300	6503	SO:0001583	missense	0			AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"GPCR / Class A : Orphans"	4542	protein-coding gene	gene with protein product		606381	"G protein-coupled receptor 91"	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.154C>G	3.37:g.151598485C>G	ENSP00000355156:p.Leu52Val		A8K305|Q8TDQ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L52V	ENST00000362032.5	37	c.154	CCDS3162.1	3	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202659	0.38905	.	.	ENSG00000198829	ENST00000362032	T	0.37235	1.21	5.27	0.9	0.19278	GPCR, rhodopsin-like superfamily (1);	0.085531	0.47852	D	0.000204	T	0.35653	0.0939	L	0.54965	1.715	0.27400	N	0.954875	P	0.49090	0.919	P	0.49421	0.61	T	0.26503	-1.0101	10	0.19590	T	0.45	.	9.1203	0.36784	0.5046:0.4273:0.0:0.0682	.	52	Q9BXA5	SUCR1_HUMAN	V	52	ENSP00000355156:L52V	ENSP00000355156:L52V	L	+	1	2	SUCNR1	153081175	0.178000	0.23122	0.996000	0.52242	0.460000	0.32559	0.391000	0.20784	0.242000	0.21303	0.655000	0.94253	CTG	SUCNR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198829		0.428	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCNR1	HGNC	protein_coding	OTTHUMT00000357897.2	-	0	56	0	C	NM_033050		151598485	1	tier1	-	no_errors	ENST00000362032	ensembl	human	known	74_37	missense	17.43	90	19	SNP	0.987	G	G	151598485	C	G	151598485	3	3	137	1	0	0	0	0	1	0	0	0	15413	912	32	5	160	5	SUCNR1	3	151598485	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	542484	151598485	46423945	47	34965											
LRRC34	151827	genome.wustl.edu	37	chr3	169526492	169526492	+	Missense_Mutation	SNP	A	A	G	1	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	tttctgggatttttccatacAcagattagaataatgtttct	11	18	6	6	0	2	2	0	0	2	2	3	3	3	3	1	1	1	1	1	1	4	7			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr3:169526492A>G	ENST00000316515.7	-	2	418	c.142T>C	c.(142-144)Tgt>Cgt	p.C48R	LRRC34_ENST00000522526.2_Missense_Mutation_p.C61R|LRRC34_ENST00000446859.1_Missense_Mutation_p.C61R|LRRC34_ENST00000524327.1_5'Flank|LRRC34_ENST00000522830.1_5'UTR	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	48										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTTTCCATACACAGATTAGAA	0.289																																																	0													36	38	37					3																	169526492		2188	4279	6467	SO:0001583	missense	0			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.142T>C	3.37:g.169526492A>G	ENSP00000326150:p.Cys48Arg		B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.C61R	ENST00000316515.7	37	c.181		3	.	.	.	.	.	.	.	.	.	.	A	17.31	3.358049	0.61403	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522526	T;T;T	0.66099	-0.0;-0.19;0.11	5.01	5.01	0.66863	.	0.041945	0.85682	D	0.000000	T	0.75532	0.3862	M	0.68593	2.085	0.58432	D	0.99999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.915;0.999;0.998	T	0.78018	-0.2368	10	0.87932	D	0	-16.2512	11.2927	0.49261	1.0:0.0:0.0:0.0	.	48;61;48	B4DHF2;G5E9T7;Q8IZ02	.;.;LRC34_HUMAN	R	61;48;61	ENSP00000414635:C61R;ENSP00000326150:C48R;ENSP00000429278:C61R	ENSP00000326150:C48R	C	-	1	0	LRRC34	171009186	0.776000	0.28616	0.351000	0.25721	0.337000	0.28794	3.864000	0.56024	2.234000	0.73211	0.459000	0.35465	TGT	LRRC34	-	NULL	ENSG00000171757		0.289	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	HGNC	protein_coding		-	0	52	0	A	NM_153353		169526492	-1	tier1	-	no_errors	ENST00000446859	ensembl	human	known	74_37	missense	20.24	67	17	SNP	0.400	G	G	169526492	A	G	169526492	3	3	137	1	0	0	0	0	1	0	0	0	9024	159	6	4	1275	4	LRRC34	3	169526492	Missense_Mutation	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	17928007	169526492	28495938	48	34966											
ZNF721	170960	genome.wustl.edu	37	chr4	438198	438198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctgcactggcaaaaagtCttgggtgaaatgagaacaca	14	7	10	10	0	1	2	0	2	1	1	1	3	1	2	2	2	2	2	2	2	4	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:438198C>T	ENST00000338977.5	-	2	70	c.22G>A	c.(22-24)Gac>Aac	p.D8N	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.D20N|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Missense_Mutation_p.D52N			Q8TF20	ZN721_HUMAN	zinc finger protein 721	8					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						GGCAAAAAGTCTTGGGTGAAA	0.328																																																	0													38	41	40					4																	438198		2104	4258	6362	SO:0001583	missense	0			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.22G>A	4.37:g.438198C>T	ENSP00000340524:p.Asp8Asn		Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D20N	ENST00000338977.5	37	c.58		4	.	.	.	.	.	.	.	.	.	.	C	8.446	0.852036	0.17034	.	.	ENSG00000182903	ENST00000506646;ENST00000338977;ENST00000511833;ENST00000505900	T;T;T;T	0.07567	5.35;3.18;3.24;6.0	0.579	-0.723	0.11181	.	.	.	.	.	T	0.07548	0.0190	M	0.67700	2.07	0.09310	N	1	P;P;P;P	0.39424	0.462;0.544;0.544;0.673	B;B;B;B	0.28916	0.08;0.044;0.044;0.096	T	0.19647	-1.0299	8	0.72032	D	0.01	.	.	.	.	.	52;8;20;20	B4E159;Q8TF20;D9N162;Q8TF20-2	.;ZN721_HUMAN;.;.	N	52;8;20;52	ENSP00000423586:D52N;ENSP00000340524:D8N;ENSP00000428878:D20N;ENSP00000421325:D52N	ENSP00000340524:D8N	D	-	1	0	ZNF721	428198	0.000000	0.05858	0.006000	0.13384	0.137000	0.21094	-2.765000	0.00783	-0.344000	0.08338	0.195000	0.17529	GAC	ZNF721	-	NULL	ENSG00000182903		0.328	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	-	0	42	0	C	NM_133474		438198	-1	tier1	-	no_errors	ENST00000511833	ensembl	human	known	74_37	missense	33.96	35	18	SNP	0.049	T	T	438198	C	T	438198	3	4	137	1	0	0	0	0	1	0	0	0	18170	913	32	3	2717	3	ZNF721	4	438198	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09		438198	190716078	49	34967											
PIGG	54872	genome.wustl.edu	37	chr4	517563	517563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acggaagcccctctacctccGaagtgctcagaggccgcgag	9	5	12	15	4	2	1	1	0	1	1	3	4	3	2	5	2	3	1	5	2	3	1	rs114931121	byFrequency	TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:517563G>C	ENST00000453061.2	+	9	2036	c.1930G>C	c.(1930-1932)Gaa>Caa	p.E644Q	PIGG_ENST00000383028.4_Missense_Mutation_p.E511Q|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.E555Q|PIGG_ENST00000310340.5_Missense_Mutation_p.E636Q	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	644					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 (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CTCTACCTCCGAAGTGCTCAG	0.637																																																	0													42	40	41					4																	517563		2203	4299	6502	SO:0001583	missense	0				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1930G>C	4.37:g.517563G>C	ENSP00000415203:p.Glu644Gln		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.E644Q	ENST00000453061.2	37	c.1930	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	G	7.833	0.720312	0.15372	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.10860	3.15;3.16;2.83;2.83	5.55	0.868	0.19090	.	1.906990	0.02650	N	0.106292	T	0.09512	0.0234	L	0.33485	1.01	0.09310	N	1	B;B;B	0.22541	0.071;0.006;0.011	B;B;B	0.19946	0.027;0.011;0.025	T	0.38067	-0.9678	10	0.13108	T	0.6	-0.0566	7.8552	0.29478	0.1994:0.3197:0.4808:0.0	.	511;644;636	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	Q	636;644;555;511	ENSP00000311750:E636Q;ENSP00000415203:E644Q;ENSP00000424800:E555Q;ENSP00000372494:E511Q	ENSP00000311750:E636Q	E	+	1	0	PIGG	507563	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.109000	0.15417	-0.314000	0.08716	-2.172000	0.00323	GAA	PIGG	-	NULL	ENSG00000174227		0.637	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	HGNC	protein_coding	OTTHUMT00000357494.1	-	0	22	0	G	NM_017733		517563	1	tier1	-	no_errors	ENST00000453061	ensembl	human	known	74_37	missense	40.00	18	12	SNP	0.000	C	C	517563	G	C	517563	3	2	137	1	0	0	0	0	1	0	0	0	11927	1059	37	5	1964	5	PIGG	4	517563	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	79365	517563	190636713	50	34968											
TMEM175	84286	genome.wustl.edu	37	chr4	941566	941566	+	Silent	SNP	A	A	G	1	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	ccagagcaggcactggatacAccgggggactgccccccagg	9	3	14	15	1	0	1	0	0	0	1	0	3	0	3	5	5	3	2	5	5	1	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:941566A>G	ENST00000264771.4	+	2	224	c.39A>G	c.(37-39)acA>acG	p.T13T	TMEM175_ENST00000508204.1_Intron|TMEM175_ENST00000515740.1_Intron	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	13						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)			CACTGGATACACCGGGGGACT	0.672																																																	0													29	33	32					4																	941566		2203	4300	6503	SO:0001819	synonymous_variant	0			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.39A>G	4.37:g.941566A>G			D3DVN4|Q8ND13	Silent	SNP	pfam_DUF1211_TMEM175	p.T13	ENST00000264771.4	37	c.39	CCDS3341.1	4																																																																																			TMEM175	-	NULL	ENSG00000127419		0.672	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM175	HGNC	protein_coding	OTTHUMT00000239193.2	-	0	61	0	A	NM_032326		941566	1	tier1	rs144663311	no_errors	ENST00000264771	ensembl	human	known	74_37	silent	30.91	38	17	SNP	0.000	G	G	941566	A	G	941566	2	3	137	1	0	0	0	0	0	0	0	1	16138	146	6	4		4	TMEM175	4	941566	Silent	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	424003	941566	190212710	51	34969											
LDB2	9079	genome.wustl.edu	37	chr4	16900009	16900009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcagtctcttgttcatctCatagattcggtactctggct	6	16	8	11	1	4	1	2	0	3	1	7	1	4	1	0	2	2	4	0	2	2	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:16900009C>G	ENST00000304523.5	-	1	423	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	LDB2_ENST00000441778.2_Missense_Mutation_p.E34Q|LDB2_ENST00000502640.1_Missense_Mutation_p.E34Q|LDB2_ENST00000515064.1_Missense_Mutation_p.E34Q	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	34					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.E34K(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTGTTCATCTCATAGATTCGG	0.453																																																	2	Substitution - Missense(2)	urinary_tract(2)											202	179	187					4																	16900009		2203	4300	6503	SO:0001583	missense	0			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.100G>C	4.37:g.16900009C>G	ENSP00000306772:p.Glu34Gln		O60619|O75480	Missense_Mutation	SNP	NULL	p.E34Q	ENST00000304523.5	37	c.100	CCDS3420.1	4	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291507	0.80914	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000506732	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.64630	1.985	0.80722	D	1	D;P;D;D	0.76494	0.976;0.882;0.985;0.999	P;P;P;D	0.91635	0.817;0.612;0.891;0.999	T	0.75806	-0.3188	9	0.38643	T	0.18	-13.2447	17.3952	0.87443	0.0:1.0:0.0:0.0	.	34;34;34;34	E9PFI4;G5E9Y7;O43679-2;O43679	.;.;.;LDB2_HUMAN	Q	34;34;34;34;10	.	ENSP00000306772:E34Q	E	-	1	0	LDB2	16509107	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.349000	0.79376	2.325000	0.78763	0.460000	0.39030	GAG	LDB2	-	NULL	ENSG00000169744		0.453	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDB2	HGNC	protein_coding	OTTHUMT00000250321.2	-	0	59	0	C			16900009	-1	tier1	-	no_errors	ENST00000304523	ensembl	human	known	74_37	missense	16.67	45	9	SNP	1.000	G	G	16900009	C	G	16900009	3	3	137	1	0	0	0	0	1	0	0	0	8724	835	29	5	1162	5	LDB2	4	16900009	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	15958443	16900009	174254267	52	34970											
PDS5A	23244	genome.wustl.edu	37	chr4	39911951	39911951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacaggaacatgaatatCattaaatctacacagaaaaa	20	9	4	8	0	3	2	2	1	2	1	4	3	3	3	0	1	2	0	0	1	8	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:39911951C>A	ENST00000303538.8	-	10	1539	c.1000G>T	c.(1000-1002)Gat>Tat	p.D334Y	PDS5A_ENST00000503396.1_Missense_Mutation_p.D334Y	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						ACATGAATATCATTAAATCTA	0.333																																																	0													54	50	52					4																	39911951		1819	4088	5907	SO:0001583	missense	0			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.1000G>T	4.37:g.39911951C>A	ENSP00000303427:p.Asp334Tyr			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D334Y	ENST00000303538.8	37	c.1000	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608310	0.87258	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.73258	-0.69;-0.73	5.06	5.06	0.68205	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85141	0.5629	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85834	0.1393	9	.	.	.	-12.8905	18.7958	0.91993	0.0:1.0:0.0:0.0	.	334;334	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	Y	334	ENSP00000303427:D334Y;ENSP00000426749:D334Y	.	D	-	1	0	PDS5A	39588346	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.718000	0.84743	2.520000	0.84964	0.650000	0.86243	GAT	PDS5A	-	superfamily_ARM-type_fold	ENSG00000121892		0.333	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1		0	25	0	C	NM_015200		39911951	-1			no_errors	ENST00000303538	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	A	A	39911951	C	A	39911951	3	1	137	1	0	0	0	0	1	0	0	0	11730	826	29	3	3142	3	PDS5A	4	39911951	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	23011942	39911951	151242325	53	34971											
ADAMTS3	9508	genome.wustl.edu	37	chr4	73181672	73181672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaccacagctgtttacatGggtcaaaggttcggaactgg	11	10	11	9	1	1	0	1	0	0	0	2	1	1	1	1	4	4	3	1	4	4	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:73181672G>T	ENST00000286657.4	-	11	1538	c.1502C>A	c.(1501-1503)cCa>cAa	p.P501Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	501	Disintegrin.				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)			CTGTTTACATGGGTCAAAGGT	0.408																																					NSCLC(168;1941 2048 2918 13048 43078)												0													89	83	85					4																	73181672		2203	4300	6503	SO:0001583	missense	0			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.1502C>A	4.37:g.73181672G>T	ENSP00000286657:p.Pro501Gln		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.P501Q	ENST00000286657.4	37	c.1502	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834018	0.91036	.	.	ENSG00000156140	ENST00000286657	T	0.64618	-0.11	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.74733	0.3755	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74931	-0.3496	10	0.56958	D	0.05	.	19.6668	0.95895	0.0:0.0:1.0:0.0	.	501	O15072	ATS3_HUMAN	Q	501	ENSP00000286657:P501Q	ENSP00000286657:P501Q	P	-	2	0	ADAMTS3	73400536	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.835000	0.99442	2.650000	0.89964	0.655000	0.94253	CCA	ADAMTS3	-	NULL	ENSG00000156140		0.408	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	-	0	44	0	G			73181672	-1	tier1	-	no_errors	ENST00000286657	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	73181672	G	T	73181672	3	4	137	1	0	0	0	0	1	0	0	0	267	1348	47	3	2163	3	ADAMTS3	4	73181672	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	33269721	73181672	117972604	54	34972											
AFM	173	genome.wustl.edu	37	chr4	74357670	74357670	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtgaaaagaaaataccaGagcgcggccagtgcataatt	15	7	11	8	2	0	3	0	1	0	2	0	3	0	3	2	1	3	2	2	1	6	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:74357670G>C	ENST00000226355.3	+	8	1018	c.925G>C	c.(925-927)Gag>Cag	p.E309Q		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	309	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAAATACCAGAGCGCGGCCA	0.353																																																	0													85	89	88					4																	74357670		2203	4300	6503	SO:0001583	missense	0			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.925G>C	4.37:g.74357670G>C	ENSP00000226355:p.Glu309Gln		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein	p.E309Q	ENST00000226355.3	37	c.925	CCDS3557.1	4	.	.	.	.	.	.	.	.	.	.	G	8.748	0.920495	0.17982	.	.	ENSG00000079557	ENST00000226355	T	0.77358	-1.09	5.06	3.26	0.37387	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.345426	0.27768	N	0.017929	T	0.65544	0.2701	L	0.36672	1.1	0.09310	N	1	P	0.37061	0.58	B	0.37550	0.253	T	0.56786	-0.7921	10	0.39692	T	0.17	.	7.1765	0.25747	0.0939:0.1707:0.7354:0.0	.	309	P43652	AFAM_HUMAN	Q	309	ENSP00000226355:E309Q	ENSP00000226355:E309Q	E	+	1	0	AFM	74576534	0.976000	0.34144	0.066000	0.19879	0.594000	0.36715	2.535000	0.45685	1.158000	0.42547	0.449000	0.29647	GAG	AFM	-	pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N	ENSG00000079557		0.353	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFM	HGNC	protein_coding	OTTHUMT00000252275.2	-	0	29	0	G			74357670	1	tier1	-	no_errors	ENST00000226355	ensembl	human	known	74_37	missense	51.43	17	18	SNP	0.011	C	C	74357670	G	C	74357670	3	2	137	1	0	0	0	0	1	0	0	0	361	943	33	5	955	5	AFM	4	74357670	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	1175998	74357670	116796606	55	34973											
PF4V1	5197	genome.wustl.edu	37	chr4	74719096	74719096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacatgagctccgcagccaGgtcccgcctcacccgcgcca	8	4	9	20	4	1	1	1	1	0	0	3	1	3	1	6	1	3	2	6	1	1	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:74719096G>C	ENST00000226524.3	+	1	191	c.17G>C	c.(16-18)aGg>aCg	p.R6T		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	6					cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCCGCAGCCAGGTCCCGCCTC	0.642																																																	0													27	27	27					4																	74719096		2203	4299	6502	SO:0001583	missense	0			M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.17G>C	4.37:g.74719096G>C	ENSP00000226524:p.Arg6Thr		A1L4S0	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.R6T	ENST00000226524.3	37	c.17	CCDS3561.1	4	.	.	.	.	.	.	.	.	.	.	G	8.410	0.844058	0.16963	.	.	ENSG00000109272	ENST00000226524	.	.	.	3.47	-3.68	0.04463	.	164.923000	0.00166	N	0.000000	T	0.16342	0.0393	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.06625	-1.0816	9	0.21014	T	0.42	.	2.2832	0.04120	0.1023:0.2429:0.1821:0.4727	.	6	P10720	PF4V_HUMAN	T	6	.	ENSP00000226524:R6T	R	+	2	0	PF4V1	74937960	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.074000	0.14662	-0.971000	0.03564	-0.972000	0.02603	AGG	PF4V1	-	NULL	ENSG00000109272		0.642	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PF4V1	HGNC	protein_coding	OTTHUMT00000252495.1	-	0	39	0	G			74719096	1	tier1	-	no_errors	ENST00000226524	ensembl	human	known	74_37	missense	10.42	43	5	SNP	0.000	C	C	74719096	G	C	74719096	3	2	137	1	0	0	0	0	1	0	0	0	11792	1000	35	5	19	5	PF4V1	4	74719096	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	361426	74719096	116435180	56	34974											
MRPL1	65008	genome.wustl.edu	37	chr4	78830473	78830473	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattatttaaaaatggacatGaaattaaggtagatgaagaa	21	11	8	1	0	0	4	0	2	0	2	0	5	0	5	0	2	0	1	0	2	10	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:78830473G>C	ENST00000315567.8	+	7	1053	c.724G>C	c.(724-726)Gaa>Caa	p.E242Q		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	242					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AAATGGACATGAAATTAAGGT	0.313																																																	0													85	94	91					4																	78830473		2203	4296	6499	SO:0001583	missense	0			AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"Mitochondrial ribosomal proteins / large subunits"	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.724G>C	4.37:g.78830473G>C	ENSP00000315017:p.Glu242Gln		A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,tigrfam_Ribosomal_L1_mit	p.E242Q	ENST00000315567.8	37	c.724	CCDS3583.2	4	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.2|20.2|20.2	3.955896|3.955896|3.955896	0.73902|0.73902|0.73902	.|.|.	.|.|.	ENSG00000169288|ENSG00000169288|ENSG00000169288	ENST00000315567;ENST00000538314|ENST00000504901|ENST00000502384	T|.|.	0.40225|.|.	1.04|.|.	5.56|5.56|5.56	5.56|5.56|5.56	0.83823|0.83823|0.83823	Ribosomal protein L1, superfamily (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.75989|0.75989|.	0.3925|0.3925|.	M|M|M	0.79475|0.79475|0.79475	2.455|2.455|2.455	0.48511|0.48511|0.48511	D|D|D	0.999665|0.999665|0.999665	P;P|.|.	0.47409|.|.	0.895;0.895|.|.	P;P|.|.	0.51918|.|.	0.684;0.684|.|.	T|T|.	0.76468|0.76468|.	-0.2948|-0.2948|.	10|5|.	0.48119|.|.	T|.|.	0.1|.|.	-25.9137|-25.9137|-25.9137	15.0262|15.0262|15.0262	0.71671|0.71671|0.71671	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	220;242|.|.	A0PJ79;Q9BYD6|.|.	.;RM01_HUMAN|.|.	Q|I|S	242;220|35|195	ENSP00000315017:E242Q|.|.	ENSP00000315017:E242Q|.|.	E|M|X	+|+|+	1|3|2	0|0|2	MRPL1|MRPL1|MRPL1	79049497|79049497|79049497	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.742000|0.742000|0.742000	0.42306|0.42306|0.42306	4.981000|4.981000|4.981000	0.63819|0.63819|0.63819	2.632000|2.632000|2.632000	0.89209|0.89209|0.89209	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|ATG|TGA	MRPL1	-	pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like	ENSG00000169288		0.313	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL1	HGNC	protein_coding	OTTHUMT00000252518.3	-	0	41	0	G	NM_020236		78830473	1	tier1	-	no_errors	ENST00000315567	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	C	C	78830473	G	C	78830473	3	2	137	1	0	0	0	0	1	0	0	0	9812	1291	45	5	750	5	MRPL1	4	78830473	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	4111377	78830473	112323803	57	34975											
IBSP	3381	genome.wustl.edu	37	chr4	88732910	88732910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtacgaatacacgggcGccaatgaatacgacaatgga	15	5	13	8	4	0	1	0	1	0	0	0	5	0	3	1	3	3	1	1	3	7	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:88732910G>A	ENST00000226284.5	+	7	869	c.802G>A	c.(802-804)Gcc>Acc	p.A268T		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	268			A -> V (in dbSNP:rs1054628). {ECO:0000269|PubMed:2404984}.		biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ATACACGGGCGCCAATGAATA	0.468																																																	0													66	61	63					4																	88732910		2203	4300	6503	SO:0001583	missense	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.802G>A	4.37:g.88732910G>A	ENSP00000226284:p.Ala268Thr			Missense_Mutation	SNP	pfam_BSP_II	p.A268T	ENST00000226284.5	37	c.802	CCDS3624.1	4	.	.	.	.	.	.	.	.	.	.	G	1.378	-0.584140	0.03827	.	.	ENSG00000029559	ENST00000226284	T	0.12879	2.64	5.36	4.1	0.47936	.	0.644144	0.15037	N	0.284091	T	0.03136	0.0092	N	0.00521	-1.4	0.21290	N	0.999732	B	0.02656	0.0	B	0.01281	0.0	T	0.40251	-0.9573	10	0.06365	T	0.9	.	7.9599	0.30066	0.8322:0.0:0.1678:0.0	.	268	P21815	SIAL_HUMAN	T	268	ENSP00000226284:A268T	ENSP00000226284:A268T	A	+	1	0	IBSP	88951934	0.020000	0.18652	0.979000	0.43373	0.596000	0.36781	0.561000	0.23515	0.866000	0.35629	-0.423000	0.05987	GCC	IBSP	-	pfam_BSP_II	ENSG00000029559		0.468	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2	-	0	9	0	G			88732910	1	tier1	-	no_errors	ENST00000226284	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.878	A	A	88732910	G	A	88732910	3	1	137	1	0	0	0	0	1	0	0	0	7502	1087	38	1	824	1	IBSP	4	88732910	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	9902437	88732910	102421366	58	34976											
FAT4	79633	genome.wustl.edu	37	chr4	126336956	126336956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacactacccagaacaattCttcaggtcagtatatttaaa	15	11	6	9	0	3	1	2	0	1	1	3	2	3	2	1	2	2	1	1	2	7	7			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:126336956C>A	ENST00000394329.3	+	5	6851	c.6838C>A	c.(6838-6840)Ctt>Att	p.L2280I	FAT4_ENST00000335110.5_Missense_Mutation_p.L578I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2280	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						CAGAACAATTCTTCAGGTCAG	0.358																																																	0													33	34	33					4																	126336956		2200	4298	6498	SO:0001583	missense	0			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.6838C>A	4.37:g.126336956C>A	ENSP00000377862:p.Leu2280Ile		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L2280I	ENST00000394329.3	37	c.6838	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468264	0.63625	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01745	4.66;4.66	5.29	5.29	0.74685	Cadherin (3);Cadherin-like (1);	0.000000	0.31450	U	0.007626	T	0.07728	0.0194	L	0.51853	1.615	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.995;0.997	T	0.53739	-0.8396	10	0.20519	T	0.43	.	18.9676	0.92702	0.0:1.0:0.0:0.0	.	578;2280	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	I	2280;578	ENSP00000377862:L2280I;ENSP00000335169:L578I	ENSP00000335169:L578I	L	+	1	0	FAT4	126556406	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.442000	0.59988	2.473000	0.83533	0.563000	0.77884	CTT	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196159		0.358	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0	26	0	C	NM_024582		126336956	1			no_errors	ENST00000394329	ensembl	human	known	74_37	missense	27.27	24	9	SNP	1.000	A	A	126336956	C	A	126336956	3	1	137	1	0	0	0	0	1	0	0	0	5714	913	32	3	6856	3	FAT4	4	126336956	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	37604046	126336956	64817320	59	34977											
PGRMC2	10424	genome.wustl.edu	37	chr4	129193573	129193573	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtactgcattcaaatctGagagatcatcatattcatct	12	16	5	8	0	6	2	4	1	2	1	6	3	6	2	0	0	2	2	0	0	3	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:129193573G>C	ENST00000296425.5	-	2	538	c.518C>G	c.(517-519)tCa>tGa	p.S173*	PGRMC2_ENST00000512483.1_5'UTR|PGRMC2_ENST00000520121.1_Nonsense_Mutation_p.S197*|PGRMC2_ENST00000394276.3_5'UTR|PGRMC2_ENST00000503588.1_Nonsense_Mutation_p.S41*|PGRMC2_ENST00000503872.1_5'UTR			O15173	PGRC2_HUMAN	progesterone receptor membrane component 2	173	Cytochrome b5 heme-binding.				steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)										ATTCAAATCTGAGAGATCATC	0.373																																					Colon(78;371 1268 8296 41305 53030)												0													70	69	69					4																	129193573		2203	4300	6503	SO:0001587	stop_gained	0				CCDS3739.1, CCDS3739.2	4q26	2008-08-29			ENSG00000164040	ENSG00000164040			16089	protein-coding gene	gene with protein product		607735				9705155	Standard	NM_006320		Approved	PMBP, DG6	uc003igg.3	O15173	OTTHUMG00000133342	ENST00000296425.5:c.518C>G	4.37:g.129193573G>C	ENSP00000296425:p.Ser173*		Q569H1	Nonsense_Mutation	SNP	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd	p.S197*	ENST00000296425.5	37	c.590		4	.	.	.	.	.	.	.	.	.	.	G	46	12.692435	0.99689	.	.	ENSG00000164040	ENST00000296425;ENST00000520121	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.0154	18.3941	0.90493	0.0:0.0:1.0:0.0	.	.	.	.	X	173;197	.	ENSP00000296425:S173X	S	-	2	0	PGRMC2	129413023	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.901000	0.92560	2.578000	0.87016	0.555000	0.69702	TCA	PGRMC2	-	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd	ENSG00000164040		0.373	PGRMC2-007	KNOWN	basic|appris_principal	protein_coding	PGRMC2	HGNC	protein_coding	OTTHUMT00000470697.1	-	0	24	0	G			129193573	-1	tier1	-	no_errors	ENST00000520121	ensembl	human	known	74_37	nonsense	27.78	13	5	SNP	1.000	C	C	129193573	G	C	129193573	4	2	137	1	0	0	0	0	0	1	0	0	11846	1294	45	5	161	5	PGRMC2	4	129193573	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	2856617	129193573	61960703	60	34978											
MAML3	55534	genome.wustl.edu	37	chr4	140811293	140811293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagataaccatttccaggccGaggtggagcttggcctggag	9	8	15	9	1	0	1	0	0	0	1	1	5	1	3	4	5	2	1	4	5	1	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:140811293G>A	ENST00000509479.2	-	2	2153	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	MAML3_ENST00000327122.5_Missense_Mutation_p.R277W|MAML3_ENST00000398940.1_5'Flank	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)					TTTCCAGGCCGAGGTGGAGCT	0.597																																																	0													84	82	82					4																	140811293		2089	4223	6312	SO:0001583	missense	0			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.1297C>T	4.37:g.140811293G>A	ENSP00000421180:p.Arg433Trp			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.R433W	ENST00000509479.2	37	c.1297	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669635	0.47677	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.27402	1.67	5.83	1.58	0.23477	.	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57568	-0.7789	10	0.72032	D	0.01	.	16.943	0.86223	0.0:0.0:0.4744:0.5256	.	433	Q96JK9	MAML3_HUMAN	W	433;277	ENSP00000421180:R433W	ENSP00000313316:R277W	R	-	1	2	MAML3	141030743	0.995000	0.38212	0.831000	0.32960	0.932000	0.56968	2.367000	0.44213	0.329000	0.23460	-0.188000	0.12872	CGG	MAML3	-	NULL	ENSG00000196782		0.597	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	-	0	33	0	G			140811293	-1	tier1	-	no_errors	ENST00000509479	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.317	A	A	140811293	G	A	140811293	3	1	137	1	0	0	0	0	1	0	0	0	9245	1057	37	1	2127	1	MAML3	4	140811293	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	11617720	140811293	50342983	61	34979											
INPP4B	8821	genome.wustl.edu	37	chr4	143159120	143159120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcgcatccacttattgtCagatgtgggaaatctatata	13	14	7	7	1	2	1	1	0	1	1	4	2	3	2	1	1	0	1	1	1	6	6			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr4:143159120C>T	ENST00000513000.1	-	13	1166	c.733G>A	c.(733-735)Gac>Aac	p.D245N	INPP4B_ENST00000509777.1_Missense_Mutation_p.D245N|INPP4B_ENST00000308502.4_Missense_Mutation_p.D245N|INPP4B_ENST00000262992.4_Missense_Mutation_p.D245N|INPP4B_ENST00000508116.1_Missense_Mutation_p.D245N	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	245					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CACTTATTGTCAGATGTGGGA	0.328																																																	0													47	46	46					4																	143159120		2201	4298	6499	SO:0001583	missense	0			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.733G>A	4.37:g.143159120C>T	ENSP00000425487:p.Asp245Asn		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_dom	p.D245N	ENST00000513000.1	37	c.733	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815670	0.70912	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	L	0.53249	1.67	0.80722	D	1	B;B	0.33288	0.031;0.406	B;B	0.36504	0.016;0.226	T	0.21759	-1.0236	10	0.15952	T	0.53	.	19.7273	0.96170	0.0:1.0:0.0:0.0	.	116;245	B7Z6T2;O15327	.;INP4B_HUMAN	N	245;245;245;116;245;245;60;60;245;116	ENSP00000425487:D245N;ENSP00000262992:D245N;ENSP00000308441:D245N;ENSP00000423954:D245N;ENSP00000422793:D245N;ENSP00000426207:D60N;ENSP00000427250:D245N;ENSP00000421065:D116N	ENSP00000262992:D245N	D	-	1	0	INPP4B	143378570	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	7.251000	0.78297	2.718000	0.92993	0.655000	0.94253	GAC	INPP4B	-	NULL	ENSG00000109452		0.328	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	-	0	45	0	C	NM_003866		143159120	-1	tier1	-	no_errors	ENST00000509777	ensembl	human	known	74_37	missense	42.86	32	24	SNP	1.000	T	T	143159120	C	T	143159120	3	4	137	1	0	0	0	0	1	0	0	0	7780	826	29	3	2101	3	INPP4B	4	143159120	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	2347827	143159120	47995156	62	34980											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33615933	33615933	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctcctttctgcattacCtggatccacacagactcatt	8	14	4	15	0	2	1	1	0	1	1	5	2	5	2	4	1	2	1	4	1	1	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:33615933C>A	ENST00000504830.1	-	15	2723	c.2388G>T	c.(2386-2388)caG>caT	p.Q796H	ADAMTS12_ENST00000352040.3_Splice_Site_p.Q711H|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	796	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGCATTACCTGGATCCACA	0.468										HNSCC(64;0.19)																																							0													137	122	127					5																	33615933		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2388+1G>T	5.37:g.33615933C>A			A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q796H	ENST00000504830.1	37	c.2388	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525339	0.85600	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.53857	0.6;0.6	5.35	5.35	0.76521	ADAM-TS Spacer 1 (1);	0.107334	0.64402	D	0.000004	T	0.78773	0.4336	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.82936	-0.0210	9	.	.	.	.	18.6763	0.91529	0.0:1.0:0.0:0.0	.	711;796	P58397-3;P58397	.;ATS12_HUMAN	H	796;711	ENSP00000422554:Q796H;ENSP00000344847:Q711H	.	Q	-	3	2	ADAMTS12	33651690	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.795000	0.62489	2.481000	0.83766	0.561000	0.74099	CAG	ADAMTS12	-	pfam_ADAM_spacer1	ENSG00000151388		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2		0	18	0	C	NM_030955	Missense_Mutation	33615933	-1			no_errors	ENST00000504830	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	33615933	C	A	33615933	5	1	137	1	0	0	0	0	0	0	1	0	257	695	24	3	2436	3	ADAMTS12	5	33615933	Splice_Site	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09		33615933	147299327	63	34981											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41009477	41009477	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccactggaggctggcttttCagccagcgccttccacaatg	7	9	10	15	1	1	0	1	0	0	0	2	1	2	1	4	3	2	2	4	3	1	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:41009477C>G	ENST00000399564.4	-	32	3775	c.3325G>C	c.(3325-3327)Gaa>Caa	p.E1109Q	MROH2B_ENST00000506092.2_Missense_Mutation_p.E664Q	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1109																	GCTGGCTTTTCAGCCAGCGCC	0.498																																																	0													91	95	94					5																	41009477		1852	4104	5956	SO:0001583	missense	0				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.3325G>C	5.37:g.41009477C>G	ENSP00000382476:p.Glu1109Gln		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1109Q	ENST00000399564.4	37	c.3325	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	5.952	0.359715	0.11239	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.04156	3.69;3.69	6.06	3.23	0.37069	Armadillo-type fold (1);	0.188110	0.37761	N	0.001941	T	0.04092	0.0114	L	0.39898	1.24	0.27480	N	0.952591	B	0.25955	0.138	B	0.21917	0.037	T	0.39643	-0.9604	10	0.13853	T	0.58	.	8.5709	0.33569	0.0:0.633:0.2888:0.0783	.	1109	Q7Z745	HTRB2_HUMAN	Q	664;814;1109	ENSP00000441504:E664Q;ENSP00000382476:E1109Q	ENSP00000296803:E814Q	E	-	1	0	HEATR7B2	41045234	1.000000	0.71417	0.999000	0.59377	0.239000	0.25481	2.152000	0.42272	0.890000	0.36211	-0.175000	0.13238	GAA	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.498	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0	24	0	C	NM_173489		41009477	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	14.29	60	10	SNP	0.998	G	G	41009477	C	G	41009477	3	3	137	1	0	0	0	0	1	0	0	0	7062	835	29	5	1476	5	HEATR7B2	5	41009477	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	7393544	41009477	139905783	64	34982											
PLCXD3	345557	genome.wustl.edu	37	chr5	41510617	41510617	+	Silent	SNP	A	A	T	1	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	ttcagctcgtttttcccctgAgacgaggccatcgtgccagt	6	12	10	13	3	1	1	1	1	0	1	4	3	2	1	4	1	2	2	4	1	0	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:41510617A>T	ENST00000377801.3	-	1	86	c.12T>A	c.(10-12)tcT>tcA	p.S4S	PLCXD3_ENST00000328457.3_Silent_p.S4S			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	4					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTTTCCCCTGAGACGAGGCCA	0.612																																																	0													45	38	40					5																	41510617		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.12T>A	5.37:g.41510617A>T			A6NL04	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.S4	ENST00000377801.3	37	c.12	CCDS34150.1	5																																																																																			PLCXD3	-	NULL	ENSG00000182836		0.612	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	-	0	15	0	A	XM_293875		41510617	-1	tier1	-	no_errors	ENST00000328457	ensembl	human	known	74_37	silent	27.27	32	12	SNP	1.000	T	T	41510617	A	T	41510617	2	4	137	1	0	0	0	0	0	0	0	1	12082	291	11	5		5	PLCXD3	5	41510617	Silent	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	501140	41510617	139404643	65	34983											
C5orf34	375444	genome.wustl.edu	37	chr5	43492341	43492341	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catatggttcagggtgttcaAtctgaattaactgctcttgt	9	16	9	7	0	4	1	2	1	2	0	4	1	4	1	0	2	2	3	0	2	4	5	rs145050535		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:43492341A>G	ENST00000306862.2	-	10	1931	c.1556T>C	c.(1555-1557)aTt>aCt	p.I519T	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	519										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AGGGTGTTCAATCTGAATTAA	0.289																																																	0								A	THR/ILE	0,4406		0,0,2203	91	87	88		1556	2.3	0.9	5	dbSNP_134	88	1,8585	1.2+/-3.3	0,1,4292	no	missense	C5orf34	NM_198566.2	89	0,1,6495	GG,GA,AA		0.0116,0.0,0.0077	benign	519/639	43492341	1,12991	2203	4293	6496	SO:0001583	missense	0			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1556T>C	5.37:g.43492341A>G	ENSP00000303490:p.Ile519Thr			Missense_Mutation	SNP	NULL	p.I519T	ENST00000306862.2	37	c.1556	CCDS3946.1	5	.	.	.	.	.	.	.	.	.	.	A	7.731	0.699214	0.15106	0.0	1.16E-4	ENSG00000172244	ENST00000306862	T	0.53206	0.63	5.98	2.33	0.28932	.	0.438058	0.24907	N	0.034648	T	0.29158	0.0725	N	0.22421	0.69	0.27320	N	0.95707	B	0.14805	0.011	B	0.13407	0.009	T	0.15694	-1.0428	10	0.26408	T	0.33	-1.963	7.6583	0.28388	0.7445:0.0:0.2555:0.0	.	519	Q96MH7	CE034_HUMAN	T	519	ENSP00000303490:I519T	ENSP00000303490:I519T	I	-	2	0	C5orf34	43528098	0.982000	0.34865	0.931000	0.37212	0.392000	0.30506	2.113000	0.41902	0.167000	0.19631	-0.263000	0.10527	ATT	C5orf34	-	NULL	ENSG00000172244		0.289	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	HGNC	protein_coding	OTTHUMT00000253843.1	-	0	40	0	A	NM_198566		43492341	-1	tier1	rs145050535	no_errors	ENST00000306862	ensembl	human	known	74_37	missense	26.92	38	14	SNP	0.979	G	G	43492341	A	G	43492341	3	3	137	1	0	0	0	0	1	0	0	0	2300	101	4	4	376	4	C5orf34	5	43492341	Missense_Mutation	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	1981724	43492341	137422919	66	34984											
SGTB	54557	genome.wustl.edu	37	chr5	65004336	65004336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcttttaattggtcaGcttttcccacatcttcaggc	7	17	5	12	0	5	0	3	0	2	0	6	0	6	0	1	2	1	1	1	2	1	7			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:65004336G>A	ENST00000381007.4	-	4	489	c.254C>T	c.(253-255)gCt>gTt	p.A85V		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	85										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)		TAATTGGTCAGCTTTTCCCAC	0.333																																																	0													117	115	116					5																	65004336		2203	4300	6503	SO:0001583	missense	0			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.254C>T	5.37:g.65004336G>A	ENSP00000370395:p.Ala85Val			Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A85V	ENST00000381007.4	37	c.254	CCDS3988.1	5	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951783	0.92660	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.75260	-0.92;-0.92	5.17	5.17	0.71159	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	D	0.85864	0.5796	M	0.74647	2.275	0.80722	D	1	D	0.64830	0.994	D	0.71870	0.975	D	0.87222	0.2254	9	0.72032	D	0.01	-1.8753	17.8631	0.88787	0.0:0.0:1.0:0.0	.	85	Q96EQ0	SGTB_HUMAN	V	85	ENSP00000370395:A85V;ENSP00000421447:A85V	ENSP00000370395:A85V	A	-	2	0	SGTB	65040092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.754000	0.85163	2.592000	0.87571	0.558000	0.71614	GCT	SGTB	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000197860		0.333	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	HGNC	protein_coding	OTTHUMT00000215057.2	-	0	72	0	G	NM_019072		65004336	-1	tier1	-	no_errors	ENST00000381007	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	65004336	G	A	65004336	3	1	137	1	0	0	0	0	1	0	0	0	14271	971	34	3	692	3	SGTB	5	65004336	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	21511995	65004336	115910924	67	34985											
TRIM36	55521	genome.wustl.edu	37	chr5	114499263	114499263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catactaggggaggggagccGaagtcgaggactgctttgat	10	8	16	7	2	0	1	0	1	0	0	1	6	0	4	1	5	3	1	1	5	3	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:114499263G>A	ENST00000282369.3	-	2	371	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000513154.1_Missense_Mutation_p.R72W|TRIM36_ENST00000514154.1_Intron	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	84					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)	p.R84W(1)		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)		GAGGGGAGCCGAAGTCGAGGA	0.443																																																	1	Substitution - Missense(1)	skin(1)											130	123	125					5																	114499263		2202	4300	6502	SO:0001583	missense	0			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.250C>T	5.37:g.114499263G>A	ENSP00000282369:p.Arg84Trp		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R84W	ENST00000282369.3	37	c.250	CCDS4115.1	5	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867347	0.51588	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	T;T;T	0.56776	0.44;0.56;0.75	5.31	5.31	0.75309	Zinc finger, RING-type (2);	1.449480	0.04013	N	0.298579	T	0.75759	0.3893	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58918	-0.7551	10	0.87932	D	0	.	15.3487	0.74363	0.0:0.0:0.8599:0.1401	.	72;84	E9PFI8;Q9NQ86	.;TRI36_HUMAN	W	84;72;72	ENSP00000282369:R84W;ENSP00000423934:R72W;ENSP00000424743:R72W	ENSP00000282369:R84W	R	-	1	2	TRIM36	114527162	1.000000	0.71417	0.493000	0.27502	0.997000	0.91878	3.656000	0.54467	2.468000	0.83385	0.655000	0.94253	CGG	TRIM36	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000152503		0.443	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2		0	45	0	G	NM_018700		114499263	-1			no_errors	ENST00000282369	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.992	A	A	114499263	G	A	114499263	3	1	137	1	0	0	0	0	1	0	0	0	16558	1057	37	1	1972	1	TRIM36	5	114499263	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	49494927	114499263	66415997	68	34986											
LRRTM2	26045	genome.wustl.edu	37	chr5	138208713	138208713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagatattatacttcacattCtttgtatggcagctgctgac	10	16	7	8	0	2	2	1	1	1	1	2	2	2	2	0	1	3	4	0	1	5	8			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:138208713C>G	ENST00000274711.6	-	2	1915	c.1537G>C	c.(1537-1539)Gaa>Caa	p.E513Q	LRRTM2_ENST00000523537.1_5'Flank|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000540387.1_5'Flank|LRRTM2_ENST00000521094.2_Missense_Mutation_p.E74Q	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	513					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)			ACTTCACATTCTTTGTATGGC	0.363																																																	0													146	139	142					5																	138208713		1871	4116	5987	SO:0001583	missense	0			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.1537G>C	5.37:g.138208713C>G	ENSP00000274711:p.Glu513Gln		A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E513Q	ENST00000274711.6	37	c.1537	CCDS47272.1	5	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377914	0.61735	.	.	ENSG00000146006	ENST00000521094;ENST00000274711	T	0.65549	-0.16	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.71978	0.3404	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.76494	0.98;0.999	D;D	0.80764	0.968;0.994	T	0.74231	-0.3732	10	0.87932	D	0	.	19.6362	0.95735	0.0:1.0:0.0:0.0	.	379;513	B7Z4G4;O43300	.;LRRT2_HUMAN	Q	74;513	ENSP00000274711:E513Q	ENSP00000274711:E513Q	E	-	1	0	LRRTM2	138236612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.739000	0.93911	0.655000	0.94253	GAA	LRRTM2	-	NULL	ENSG00000146006		0.363	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM2	HGNC	protein_coding	OTTHUMT00000374043.2	-	0	87	0	C			138208713	-1	tier1	-	no_errors	ENST00000274711	ensembl	human	known	74_37	missense	37.68	43	26	SNP	1.000	G	G	138208713	C	G	138208713	3	3	137	1	0	0	0	0	1	0	0	0	9075	922	32	5	17	5	LRRTM2	5	138208713	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	23709450	138208713	42706547	69	34987											
PCDHA3	56145	genome.wustl.edu	37	chr5	140181759	140181759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtagaagccacggataaagGaaatcccccaatgtcagatc	15	6	10	10	1	1	2	1	0	0	2	3	4	2	4	3	3	1	1	3	3	6	2	rs148196865		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:140181759G>T	ENST00000522353.2	+	1	977	c.977G>T	c.(976-978)gGa>gTa	p.G326V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G326V|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	326	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)	p.G326E(1)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGATAAAGGAAATCCCCCA	0.378																																																	1	Substitution - Missense(1)	skin(1)											166	165	165					5																	140181759		2203	4300	6503	SO:0001583	missense	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.977G>T	5.37:g.140181759G>T	ENSP00000429808:p.Gly326Val		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G326V	ENST00000522353.2	37	c.977	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	15.89	2.965274	0.53507	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.68181	-0.31;-0.31	4.79	4.79	0.61399	Cadherin (4);Cadherin-like (1);	0.000000	0.40728	U	0.001031	D	0.88262	0.6389	H	0.97186	3.955	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.92507	0.6013	10	0.87932	D	0	.	18.1862	0.89793	0.0:0.0:1.0:0.0	.	326;326	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	326	ENSP00000429808:G326V;ENSP00000434086:G326V	ENSP00000429808:G326V	G	+	2	0	PCDHA3	140161943	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	6.167000	0.71902	2.378000	0.81104	0.467000	0.42956	GGA	PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000255408		0.378	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2		0	37	0	G	NM_018906		140181759	1			no_errors	ENST00000522353	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.995	T	T	140181759	G	T	140181759	3	4	137	1	0	0	0	0	1	0	0	0	11564	1174	41	3	979	3	PCDHA3	5	140181759	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	1973046	140181759	40733501	70	34988											
PCDHA7	56141	genome.wustl.edu	37	chr5	140215524	140215524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggagagcggcaaggtgtacgCgctgcagccgttggaccacg	8	5	17	11	5	0	1	0	0	0	1	0	3	0	2	2	4	4	5	2	4	2	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:140215524C>T	ENST00000525929.1	+	1	1556	c.1556C>T	c.(1555-1557)gCg>gTg	p.A519V	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A519V|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	519	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGTGTACGCGCTGCAGCCG	0.682																																					NSCLC(160;258 2013 5070 22440 28951)												0													69	76	73					5																	140215524		2201	4287	6488	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1556C>T	5.37:g.140215524C>T	ENSP00000436426:p.Ala519Val		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A519V	ENST00000525929.1	37	c.1556	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609889	0.46527	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.43294	0.95;0.95	4.01	3.14	0.36123	Cadherin (5);Cadherin-like (1);	0.000000	0.31519	U	0.007514	T	0.41305	0.1153	L	0.35723	1.085	0.23838	N	0.996707	P;P	0.50156	0.932;0.802	P;P	0.50825	0.572;0.651	T	0.22800	-1.0206	10	0.62326	D	0.03	.	10.4793	0.44684	0.0:0.8329:0.0:0.1671	.	519;519	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	519	ENSP00000436426:A519V;ENSP00000367365:A519V	ENSP00000367365:A519V	A	+	2	0	PCDHA7	140195708	0.000000	0.05858	0.999000	0.59377	0.462000	0.32619	0.371000	0.20450	0.822000	0.34565	-0.665000	0.03846	GCG	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204963		0.682	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0	139	0	C	NM_018910		140215524	1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	54.95	41	50	SNP	0.683	T	T	140215524	C	T	140215524	3	4	137	1	0	0	0	0	1	0	0	0	11568	768	27	1	1558	1	PCDHA7	5	140215524	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	33765	140215524	40699736	71	34989											
PCDHGC3	5098	genome.wustl.edu	37	chr5	140857757	140857757	+	Frame_Shift_Del	DEL	T	T	-																															agcagaaaaaaaatctcaccTtttatctacttctttctcta																										TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:140857757delT	ENST00000308177.3	+	1	2178	c.2074delT	c.(2074-2076)tttfs	p.F692fs	PCDHGA8_ENST00000398604.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	692					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)			AAATCTCACCTTTTATCTACT	0.488											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													138	173	161					5																	140857757		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2074delT	5.37:g.140857757delT	ENSP00000312070:p.Phe692fs	1659	O60622|Q08192|Q9Y5C4	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y693fs	ENST00000308177.3	37	c.2074	CCDS4261.1	5																																																																																			PCDHGC3	-	NULL	ENSG00000240184		0.488	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	HGNC	protein_coding	OTTHUMT00000251808.2		0	30	0	T	NM_002588		140857757	1	tier1		no_errors	ENST00000308177	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	1.000	-	-	140857757	T	-	140857757	7	5	137	1	0	1	0	1	0	0	0	0	11608	1609	56	0	2076	0	PCDHGC3	5	140857757	Frame_Shift_Del	DEL	T	TCGA-Q9-A6FU-01A-11D-A31U-09	642233	140857757	40057503	72	34990											
AFAP1L1	134265	genome.wustl.edu	37	chr5	148689634	148689635	+	Frame_Shift_Ins	INS	-	-	G																															cacgagctgcgtttcacccaINSgggggctaccgaggtcttgg																								rs35622916		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:148689634_148689635insG	ENST00000296721.4	+	8	961_962	c.863_864insG	c.(862-867)caggggfs	p.QG288fs	AFAP1L1_ENST00000515000.1_Frame_Shift_Ins_p.QG288fs	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	288	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTTCACCCAGGGGGCTACCG	0.629																																																	0																																										SO:0001589	frameshift_variant	0			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.868dupG	5.37:g.148689639_148689639dupG	ENSP00000296721:p.Gln288fs		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Frame_Shift_Ins	INS	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A290fs	ENST00000296721.4	37	c.863_864	CCDS34274.1	5																																																																																			AFAP1L1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000157510		0.629	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1		0	50	0	-	NM_152406		148689635	1	tier1		no_errors	ENST00000296721	ensembl	human	known	74_37	frame_shift_ins	5.56	34	2	INS	1.000:1.000	G	G	148689635	-	G	148689634	7	5	137	1	0	1	1	0	0	0	0	0	354	188	7	0	893	0	AFAP1L1	5	148689634	Frame_Shift_Ins	INS	-	TCGA-Q9-A6FU-01A-11D-A31U-09	7831877	148689634	32225626	73	34991											
PDE6A	5145	genome.wustl.edu	37	chr5	149245776	149245776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcaatgaagccgacttgaAgcttagggagttcatctgct	11	11	11	8	1	3	2	2	2	1	0	3	4	3	3	1	1	3	3	1	1	4	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:149245776A>G	ENST00000255266.5	-	20	2434	c.2315T>C	c.(2314-2316)cTt>cCt	p.L772P		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	772					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.L772H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GCCGACTTGAAGCTTAGGGAG	0.463																																																	1	Substitution - Missense(1)	lung(1)											176	161	166					5																	149245776		2203	4300	6503	SO:0001583	missense	0				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2315T>C	5.37:g.149245776A>G	ENSP00000255266:p.Leu772Pro		Q0P638	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.L772P	ENST00000255266.5	37	c.2315	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	A	18.07	3.542575	0.65198	.	.	ENSG00000132915	ENST00000255266	T	0.78595	-1.19	5.22	5.22	0.72569	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.069182	0.64402	D	0.000014	D	0.82990	0.5157	M	0.85197	2.74	0.80722	D	1	B	0.30664	0.289	B	0.40477	0.33	T	0.83131	-0.0113	10	0.48119	T	0.1	.	13.053	0.58964	1.0:0.0:0.0:0.0	.	772	P16499	PDE6A_HUMAN	P	772	ENSP00000255266:L772P	ENSP00000255266:L772P	L	-	2	0	PDE6A	149225969	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.526000	0.90588	1.969000	0.57287	0.379000	0.24179	CTT	PDE6A	-	pfam_PDEase_catalytic_dom	ENSG00000132915		0.463	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2		0	65	0	A			149245776	-1			no_errors	ENST00000255266	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	G	G	149245776	A	G	149245776	3	3	137	1	0	0	0	0	1	0	0	0	11684	72	3	4	279	4	PDE6A	5	149245776	Missense_Mutation	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	556142	149245776	31669484	74	34992											
C5orf54	63920	genome.wustl.edu	37	chr5	159822044	159822044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagatatcctggctcatttCatcaattctagaatggatca	13	14	6	8	0	5	2	4	0	1	2	6	3	6	3	1	2	0	1	1	2	5	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:159822044C>T	ENST00000408953.3	-	2	961	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	C5orf54_ENST00000523213.1_Missense_Mutation_p.E152K	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						tggctcatttcatcaattcta	0.408																																																	0													96	97	97					5																	159822044		2203	4300	6503	SO:0001583	missense	0																														ENST00000408953.3:c.454G>A	5.37:g.159822044C>T	ENSP00000386184:p.Glu152Lys			Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.E152K	ENST00000408953.3	37	c.454	CCDS34283.1	5	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710969	0.30322	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.14766	2.48;2.48	3.47	0.551	0.17225	.	.	.	.	.	T	0.09247	0.0228	L	0.43152	1.355	0.24335	N	0.994989	B	0.28713	0.22	B	0.26517	0.07	T	0.39187	-0.9626	9	0.16420	T	0.52	.	3.9967	0.09561	0.4189:0.4625:0.0:0.1186	.	152	Q8IZ13	CE054_HUMAN	K	152	ENSP00000386184:E152K;ENSP00000428831:E152K	ENSP00000386184:E152K	E	-	1	0	C5orf54	159754622	0.928000	0.31464	0.979000	0.43373	0.995000	0.86356	-0.172000	0.09868	0.086000	0.17137	0.655000	0.94253	GAA	C5orf54	-	NULL	ENSG00000221886		0.408	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1	-	0	44	0	C			159822044	-1	tier1	-	no_errors	ENST00000408953	ensembl	human	known	74_37	missense	37.50	20	12	SNP	0.982	T	T	159822044	C	T	159822044	3	4	137	1	0	0	0	0	1	0	0	0	2317	835	29	3	1334	3	C5orf54	5	159822044	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	10576268	159822044	21093216	75	34993											
GABRA6	2559	genome.wustl.edu	37	chr5	161117302	161117302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcattatgacagtcattCtttcccaggtgtctttctgg	6	17	8	10	0	4	1	1	1	3	0	5	1	5	1	1	2	1	1	1	2	1	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:161117302C>A	ENST00000274545.5	+	7	1202	c.769C>A	c.(769-771)Ctt>Att	p.L257I	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.L247I			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	257					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)	GACAGTCATTCTTTCCCAGGT	0.398										TCGA Ovarian(5;0.080)																																							0													171	157	162					5																	161117302		2203	4300	6503	SO:0001583	missense	0				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.769C>A	5.37:g.161117302C>A	ENSP00000274545:p.Leu257Ile		A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L257I	ENST00000274545.5	37	c.769	CCDS4356.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.018384|4.018384	0.75275|0.75275	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000520000|ENST00000274545;ENST00000523217;ENST00000523691	.|D;D;D	.|0.92858	.|-3.12;-3.12;-3.12	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Neurotransmitter-gated ion-channel transmembrane domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95188|0.95188	0.8440|0.8440	L|L	0.52823|0.52823	1.66|1.66	0.49213|0.49213	D|D	0.999767|0.999767	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.95564|0.95564	0.8632|0.8632	5|10	.|0.87932	.|D	.|0	.|.	18.9873|18.9873	0.92777|0.92777	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|257	.|Q16445	.|GBRA6_HUMAN	L|I	196|257;247;177	.|ENSP00000274545:L257I;ENSP00000430527:L247I;ENSP00000427989:L177I	.|ENSP00000274545:L257I	F|L	+|+	3|1	2|0	GABRA6|GABRA6	161049880|161049880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.825000|4.825000	0.62708|0.62708	2.491000|2.491000	0.84063|0.84063	0.655000|0.655000	0.94253|0.94253	TTC|CTT	GABRA6	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000145863		0.398	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	-	0	43	0	C			161117302	1	tier1	-	no_errors	ENST00000274545	ensembl	human	known	74_37	missense	62.79	16	27	SNP	1.000	A	A	161117302	C	A	161117302	3	1	137	1	0	0	0	0	1	0	0	0	6189	913	32	3	795	3	GABRA6	5	161117302	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	1295258	161117302	19797958	76	34994											
TRIM52	84851	genome.wustl.edu	37	chr5	180687602	180687602	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccatccatggcccccacCgcttcctcgtcctcctcctc	4	10	4	23	2	0	0	0	0	0	0	8	0	6	0	9	1	0	1	9	1	0	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr5:180687602C>T	ENST00000327767.4	-	1	517	c.213G>A	c.(211-213)gcG>gcA	p.A71A	CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52-AS1_ENST00000507434.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	71	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TGGCCCCCACCGCTtcctcgt	0.567																																																	0													150	112	125					5																	180687602		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.213G>A	5.37:g.180687602C>T				Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.A71	ENST00000327767.4	37	c.213	CCDS4467.1	5																																																																																			TRIM52	-	smart_Znf_RING	ENSG00000183718		0.567	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM52	HGNC	protein_coding	OTTHUMT00000253572.3	-	0	23	0	C	NM_032765		180687602	-1	tier1	-	no_errors	ENST00000327767	ensembl	human	known	74_37	silent	50.00	9	9	SNP	0.002	T	T	180687602	C	T	180687602	2	4	137	1	0	0	0	0	0	0	0	1	16575	639	23	1		1	TRIM52	5	180687602	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	19570300	180687602	227658	77	34995											
OR5V1	81696	genome.wustl.edu	37	chr6	29323469	29323469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaatctgattgttgccacaGaagggcaggcagaatgtcaa	13	10	11	7	0	2	3	1	1	1	2	2	3	2	3	1	2	1	3	1	2	4	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:29323469G>A	ENST00000377154.1	-	4	803	c.504C>T	c.(502-504)ttC>ttT	p.F168F	OR5V1_ENST00000543825.1_Silent_p.F168F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTTGCCACAGAAGGGCAGGC	0.458																																					Ovarian(32;43 883 21137 32120 42650)												0													90	86	88					6																	29323469		2203	4299	6502	SO:0001819	synonymous_variant	0				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.504C>T	6.37:g.29323469G>A			A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F168	ENST00000377154.1	37	c.504	CCDS4657.1	6																																																																																			OR5V1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000243729		0.458	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5V1	HGNC	protein_coding	OTTHUMT00000076398.3	-	0	15	0	G			29323469	-1	tier1	-	no_errors	ENST00000377154	ensembl	human	known	74_37	silent	77.78	8	28	SNP	0.996	A	A	29323469	G	A	29323469	2	1	137	1	0	0	0	0	0	0	0	1	11223	933	33	3		3	OR5V1	6	29323469	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09		29323469	141791598	78	34996											
ZFP57	4340	genome.wustl.edu	37	chr6	29640996	29640996	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaattcagcctgggtgcctgGaatcctcaaagtacactcct	10	10	9	12	0	2	0	2	0	0	0	4	2	4	1	4	2	3	1	4	2	4	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:29640996G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.P278S|ZFP57_ENST00000376883.1_Missense_Mutation_p.P278S|ZFP57_ENST00000488757.1_Missense_Mutation_p.P298S	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						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						TGGGTGCCTGGAATCCTCAAA	0.562																																																	0													149	156	154					6																	29640996		1238	2543	3781	SO:0001628	intergenic_variant	0				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		6.37:g.29640996G>A			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	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P298S	ENST00000376917.3	37	c.892	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123368	0.37436	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05996	3.36;3.59;3.59	4.17	2.29	0.28610	.	0.682915	0.12326	N	0.478793	T	0.02119	0.0066	L	0.34521	1.04	0.09310	N	1	B;B	0.25312	0.123;0.123	B;B	0.24974	0.057;0.057	T	0.42515	-0.9447	10	0.46703	T	0.11	0.4077	12.1816	0.54216	0.0:0.3308:0.6691:0.0	.	298;278	Q9NU63-3;Q9NU63-2	.;.	S	298;278;278	ENSP00000418259:P298S;ENSP00000366078:P278S;ENSP00000366080:P278S	ENSP00000366078:P278S	P	-	1	0	ZFP57	29748975	0.000000	0.05858	0.001000	0.08648	0.411000	0.31082	0.338000	0.19858	0.645000	0.30675	0.563000	0.77884	CCA	ZFP57	-	NULL	ENSG00000204644		0.562	MOG-001	KNOWN	basic|CCDS	protein_coding	ZFP57	HGNC	protein_coding	OTTHUMT00000076160.3	-	0	113	0	G	NM_002433		29640996	-1	tier1	-	no_errors	ENST00000488757	ensembl	human	known	74_37	missense	23.62	97	30	SNP	0.007	A	A	29640996	G	A	29640996	1	1	137	0	1	0	0	0	0	0	0	0	17699	1174	41	3		3	ZFP57	6	29640996	IGR	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	317527	29640996	141474071	79	34997											
ZNF318	24149	genome.wustl.edu	37	chr6	43307265	43307265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gttcaaaatgttaggacccaCgaagccagggctgagagtct	12	8	12	9	1	2	1	1	1	1	1	2	4	2	2	2	2	1	3	2	2	4	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:43307265C>T	ENST00000361428.2	-	10	4548	c.4471G>A	c.(4471-4473)Gtg>Atg	p.V1491M	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1491	Pro-rich.				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)			TTAGGACCCACGAAGCCAGGG	0.522																																																	0													71	65	67					6																	43307265		2203	4300	6503	SO:0001583	missense	0			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.4471G>A	6.37:g.43307265C>T	ENSP00000354964:p.Val1491Met		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.V1491M	ENST00000361428.2	37	c.4471	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	C	3.389	-0.124640	0.06795	.	.	ENSG00000171467	ENST00000361428	T	0.12147	2.71	5.14	1.15	0.20763	.	1.046160	0.07584	N	0.920834	T	0.02047	0.0064	N	0.14661	0.345	0.22851	N	0.998656	B	0.18968	0.032	B	0.09377	0.004	T	0.46775	-0.9167	10	0.33141	T	0.24	0.0079	3.9703	0.09451	0.091:0.405:0.3595:0.1444	.	1491	Q5VUA4	ZN318_HUMAN	M	1491	ENSP00000354964:V1491M	ENSP00000354964:V1491M	V	-	1	0	ZNF318	43415243	0.129000	0.22400	0.991000	0.47740	0.849000	0.48306	0.082000	0.14847	0.299000	0.22661	-1.114000	0.02060	GTG	ZNF318	-	NULL	ENSG00000171467		0.522	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	-	0	50	0	C	NM_014345		43307265	-1	tier1	-	no_errors	ENST00000361428	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.345	T	T	43307265	C	T	43307265	3	4	137	1	0	0	0	0	1	0	0	0	17884	536	19	1	2372	1	ZNF318	6	43307265	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	13666269	43307265	127807802	80	34998											
TFAP2B	7021	genome.wustl.edu	37	chr6	50803869	50803869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgaggtgttttgctccGtcccaggccgtttgtctctg	2	13	13	13	4	1	0	0	0	1	0	4	1	3	0	4	3	1	3	4	3	0	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:50803869G>T	ENST00000393655.3	+	4	866	c.697G>T	c.(697-699)Gtc>Ttc	p.V233F	TFAP2B_ENST00000263046.4_Missense_Mutation_p.V242F	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	233					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)	p.V233F(1)		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)					GTTTTGCTCCGTCCCAGGCCG	0.512																																					Pancreas(116;1373 2332 5475 10752)												1	Substitution - Missense(1)	lung(1)											92	92	92					6																	50803869		2203	4300	6503	SO:0001583	missense	0			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.697G>T	6.37:g.50803869G>T	ENSP00000377265:p.Val233Phe		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.V242F	ENST00000393655.3	37	c.724	CCDS4934.2	6	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351246	0.41700	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.98762	-5.12;-5.12	5.34	5.34	0.76211	Transcription factor AP-2, C-terminal (1);	0.183899	0.47093	D	0.000248	D	0.98950	0.9643	M	0.82193	2.58	0.80722	D	1	P	0.49783	0.928	P	0.57425	0.82	D	0.99866	1.1090	10	0.87932	D	0	-16.8707	19.0331	0.92965	0.0:0.0:1.0:0.0	.	233	Q92481	AP2B_HUMAN	F	233;242	ENSP00000377265:V233F;ENSP00000263046:V242F	ENSP00000263046:V242F	V	+	1	0	TFAP2B	50911828	1.000000	0.71417	0.501000	0.27601	0.033000	0.12548	9.869000	0.99810	2.503000	0.84419	0.650000	0.86243	GTC	TFAP2B	-	pfam_TF_AP2_C	ENSG00000008196		0.512	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3		0	45	0	G	NM_003221		50803869	1			no_errors	ENST00000263046	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.997	T	T	50803869	G	T	50803869	3	4	137	1	0	0	0	0	1	0	0	0	15835	1145	40	2	711	2	TFAP2B	6	50803869	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	7496604	50803869	120311198	81	34999											
PKHD1	5314	genome.wustl.edu	37	chr6	51483924	51483924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtgtactgaatgaaggcaGaatgcctcagtggccccgca	10	7	14	10	1	1	3	1	2	0	1	1	3	1	3	3	3	2	3	3	3	4	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:51483924G>A	ENST00000371117.3	-	67	12455	c.12180C>T	c.(12178-12180)ttC>ttT	p.F4060F	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000587000.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4060					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)					AATGAAGGCAGAATGCCTCAG	0.537																																																	0													61	63	62					6																	51483924		2203	4300	6503	SO:0001819	synonymous_variant	0			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.12180C>T	6.37:g.51483924G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.F4060	ENST00000371117.3	37	c.12180	CCDS4935.1	6																																																																																			PKHD1	-	NULL	ENSG00000170927		0.537	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	-	0	33	0	G	NM_138694		51483924	-1	tier1	-	no_errors	ENST00000371117	ensembl	human	known	74_37	silent	26.32	28	10	SNP	0.000	A	A	51483924	G	A	51483924	2	1	137	1	0	0	0	0	0	0	0	1	12010	933	33	3		3	PKHD1	6	51483924	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	680055	51483924	119631143	82	35000											
OOEP	441161	genome.wustl.edu	37	chr6	74079456	74079456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacctacgcagctgctccagGgagtgggccggagtctgttt	7	9	14	11	2	1	0	0	0	1	0	2	2	2	2	3	3	4	4	3	3	2	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:74079456G>A	ENST00000370359.5	-	1	59	c.60C>T	c.(58-60)tcC>tcT	p.S20S	OOEP_ENST00000370363.1_Intron|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	20					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						GCTGCTCCAGGGAGTGGGCCG	0.642																																																	0													53	64	60					6																	74079456		2134	4258	6392	SO:0001819	synonymous_variant	0			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.60C>T	6.37:g.74079456G>A			A6NIN5|A9UIB7	Silent	SNP	NULL	p.S20	ENST00000370359.5	37	c.60	CCDS47451.1	6																																																																																			OOEP	-	NULL	ENSG00000203907		0.642	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OOEP	HGNC	protein_coding	OTTHUMT00000108414.2	-	0	38	0	G	NM_001080507		74079456	-1	tier1	-	no_errors	ENST00000370359	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.001	A	A	74079456	G	A	74079456	2	1	137	1	0	0	0	0	0	0	0	1	10909	1219	43	3		3	OOEP	6	74079456	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	22595532	74079456	97035611	83	35001											
PHIP	55023	genome.wustl.edu	37	chr6	79668285	79668285	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgtgtattatgctctataTatcgaacttcccacattagg	10	16	6	9	2	1	0	0	0	1	0	4	1	2	0	1	1	2	2	1	1	7	8			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:79668285T>C	ENST00000275034.4	-	32	3856	c.3689A>G	c.(3688-3690)tAt>tGt	p.Y1230C	AL356776.1_ENST00000516160.2_RNA|PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1230	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)		ATGCTCTATATATCGAACTTC	0.308																																																	0													58	56	57					6																	79668285		2203	4299	6502	SO:0001583	missense	0			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.3689A>G	6.37:g.79668285T>C	ENSP00000275034:p.Tyr1230Cys		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.Y1230C	ENST00000275034.4	37	c.3689	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323622	0.81580	.	.	ENSG00000146247	ENST00000275034	T	0.18960	2.18	5.9	5.9	0.94986	Bromodomain (5);	0.000000	0.64402	D	0.000002	T	0.44850	0.1313	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52313	-0.8592	9	.	.	.	-16.8485	15.5056	0.75739	0.0:0.0:0.0:1.0	.	1230;1230	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	1230	ENSP00000275034:Y1230C	.	Y	-	2	0	PHIP	79725004	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.017000	0.88712	2.254000	0.74563	0.460000	0.39030	TAT	PHIP	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000146247		0.308	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	-	0	70	0	T			79668285	-1	tier1	-	no_errors	ENST00000275034	ensembl	human	known	74_37	missense	28.38	53	21	SNP	1.000	C	C	79668285	T	C	79668285	3	2	137	1	0	0	0	0	1	0	0	0	11881	1406	49	4	1812	4	PHIP	6	79668285	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	5588829	79668285	91446782	84	35002											
IBTK	25998	genome.wustl.edu	37	chr6	82924304	82924304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tctctaccacaaagagatggCaccctgcagaatcttcatct	12	10	6	13	0	4	2	1	0	3	2	5	3	4	2	2	1	2	2	2	1	3	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:82924304C>T	ENST00000306270.7	-	12	2393	c.1844G>A	c.(1843-1845)tGc>tAc	p.C615Y	IBTK_ENST00000503631.1_Intron|IBTK_ENST00000510291.1_Missense_Mutation_p.C615Y	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	615	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		AAAGAGATGGCACCCTGCAGA	0.338																																																	0													46	45	46					6																	82924304		2203	4300	6503	SO:0001583	missense	0			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.1844G>A	6.37:g.82924304C>T	ENSP00000305721:p.Cys615Tyr		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.C615Y	ENST00000306270.7	37	c.1844	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196910	0.79015	.	.	ENSG00000005700	ENST00000306270;ENST00000510291	T;T	0.24350	1.86;1.86	5.71	5.71	0.89125	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.041945	0.85682	D	0.000000	T	0.37598	0.1009	M	0.77103	2.36	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.72075	0.976;0.957;0.976	T	0.39901	-0.9591	10	0.02654	T	1	-5.9165	19.8632	0.96793	0.0:1.0:0.0:0.0	.	615;615;615	E7EPI0;Q9P2D0-2;Q9P2D0	.;.;IBTK_HUMAN	Y	615	ENSP00000305721:C615Y;ENSP00000426405:C615Y	ENSP00000305721:C615Y	C	-	2	0	IBTK	82981023	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.699000	0.92147	0.655000	0.94253	TGC	IBTK	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000005700		0.338	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2		0	60	0	C	NM_015525		82924304	-1			no_errors	ENST00000306270	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	82924304	C	T	82924304	3	4	137	1	0	0	0	0	1	0	0	0	7503	710	25	3	2289	3	IBTK	6	82924304	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	3256019	82924304	88190763	85	35003											
KIAA1009	22832	genome.wustl.edu	37	chr6	84925088	84925088	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagatgtcaagcctttctCaagcctggcaaaaaattgtt	13	11	9	8	0	2	1	2	0	1	1	3	2	2	2	2	2	2	2	2	2	6	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:84925088C>G	ENST00000403245.3	-	5	529	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	KIAA1009_ENST00000257766.4_Missense_Mutation_p.E63Q	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)		AAGCCTTTCTCAAGCCTGGCA	0.358																																																	0													108	101	103					6																	84925088		2203	4299	6502	SO:0001583	missense	0																														ENST00000403245.3:c.415G>C	6.37:g.84925088C>G	ENSP00000385215:p.Glu139Gln			Missense_Mutation	SNP	NULL	p.E139Q	ENST00000403245.3	37	c.415	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242449	0.39598	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.15718	2.4;2.4	5.46	4.53	0.55603	.	0.184871	0.37483	N	0.002061	T	0.19366	0.0465	L	0.50333	1.59	0.30224	N	0.796533	P;D	0.56521	0.897;0.976	B;P	0.56474	0.357;0.799	T	0.00455	-1.1729	10	0.45353	T	0.12	-16.4423	16.0206	0.80486	0.0:0.8656:0.1344:0.0	.	139;139	Q5TB80;C9JFM9	QN1_HUMAN;.	Q	63;139	ENSP00000257766:E63Q;ENSP00000385215:E139Q	ENSP00000257766:E63Q	E	-	1	0	KIAA1009	84981807	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	3.977000	0.56874	2.706000	0.92434	0.591000	0.81541	GAG	KIAA1009	-	NULL	ENSG00000135315		0.358	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	-	0	38	0	C			84925088	-1	tier1	-	no_errors	ENST00000403245	ensembl	human	known	74_37	missense	27.66	33	13	SNP	1.000	G	G	84925088	C	G	84925088	3	3	137	1	0	0	0	0	1	0	0	0	8230	835	29	5	3888	5	KIAA1009	6	84925088	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	2000784	84925088	86189979	86	35004											
FBXL4	26235	genome.wustl.edu	37	chr6	99347302	99347302	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagcaagtttcattaagaaAgtggctgcaagacaattcaa	17	10	8	6	0	2	2	2	0	0	2	2	2	2	2	0	1	2	4	0	1	7	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:99347302A>T	ENST00000369244.2	-	7	1587	c.1159T>A	c.(1159-1161)Ttt>Att	p.F387I	FBXL4_ENST00000229971.1_Missense_Mutation_p.F387I	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	387					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TCATTAAGAAAGTGGCTGCAA	0.368																																																	0													91	85	87					6																	99347302		2203	4300	6503	SO:0001583	missense	0			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1159T>A	6.37:g.99347302A>T	ENSP00000358247:p.Phe387Ile		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.F387I	ENST00000369244.2	37	c.1159	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511135	0.85389	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.14766	2.48;2.48	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.49513	1.565	0.80722	D	1	P	0.52842	0.956	P	0.47299	0.543	T	0.20438	-1.0275	10	0.22706	T	0.39	.	11.5959	0.50972	0.8512:0.1488:0.0:0.0	.	387	Q9UKA2	FBXL4_HUMAN	I	387	ENSP00000358247:F387I;ENSP00000229971:F387I	ENSP00000229971:F387I	F	-	1	0	FBXL4	99454023	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.963000	0.76055	2.094000	0.63399	0.460000	0.39030	TTT	FBXL4	-	NULL	ENSG00000112234		0.368	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	-	0	22	0	A			99347302	-1	tier1	-	no_errors	ENST00000229971	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	T	T	99347302	A	T	99347302	3	4	137	1	0	0	0	0	1	0	0	0	5743	72	3	5	722	5	FBXL4	6	99347302	Missense_Mutation	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	14422214	99347302	71767765	87	35005											
TRAF3IP2	10758	genome.wustl.edu	37	chr6	111901440	111901440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggagcagtctctctgtgCgggcctctcttcgtggtccc	5	11	12	13	2	3	0	0	0	3	0	7	1	4	1	2	3	2	1	2	3	1	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:111901440C>A	ENST00000340026.6	-	4	1603	c.1009G>T	c.(1009-1011)Gca>Tca	p.A337S	TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.A328S|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000607066.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.A328S|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	337					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)			p.A337T(1)		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)		TCTCTCTGTGCGGGCCTCTCT	0.567																																																	1	Substitution - Missense(1)	endometrium(1)											41	44	43					6																	111901440		2203	4300	6503	SO:0001583	missense	0			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.1009G>T	6.37:g.111901440C>A	ENSP00000345984:p.Ala337Ser		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	pfam_SEFIR	p.A337S	ENST00000340026.6	37	c.1009		6	.	.	.	.	.	.	.	.	.	.	C	8.945	0.966804	0.18659	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.32988	1.43;1.43;1.43	5.99	1.06	0.20224	.	0.880155	0.09896	N	0.741638	T	0.10680	0.0261	L	0.53249	1.67	0.09310	N	0.999998	P;P;P	0.44044	0.732;0.825;0.732	B;B;B	0.41466	0.195;0.358;0.195	T	0.21484	-1.0244	10	0.21014	T	0.42	4.2744	5.1738	0.15124	0.0:0.415:0.2711:0.3139	.	337;328;328	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	S	337;328;337;328	ENSP00000357750:A328S;ENSP00000345984:A337S;ENSP00000352889:A328S	ENSP00000345984:A337S	A	-	1	0	TRAF3IP2	112008133	0.000000	0.05858	0.001000	0.08648	0.119000	0.20118	-0.468000	0.06656	-0.095000	0.12351	-0.345000	0.07892	GCA	TRAF3IP2	-	NULL	ENSG00000056972		0.567	TRAF3IP2-001	KNOWN	basic	protein_coding	TRAF3IP2	HGNC	protein_coding	OTTHUMT00000041841.2		0	18	0	C			111901440	-1			no_errors	ENST00000340026	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.000	A	A	111901440	C	A	111901440	3	1	137	1	0	0	0	0	1	0	0	0	16489	768	27	2	743	2	TRAF3IP2	6	111901440	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	12554138	111901440	59213627	88	35006											
ARID1B	57492	genome.wustl.edu	37	chr6	157528371	157528371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacgttggccaacatttcCgggcagctagacttgtctgc	7	11	11	12	2	2	1	1	0	1	1	3	1	3	1	2	2	3	3	2	2	2	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:157528371C>T	ENST00000350026.5	+	19	6058	c.6057C>T	c.(6055-6057)tcC>tcT	p.S2019S	ARID1B_ENST00000275248.4_Silent_p.S2014S|ARID1B_ENST00000367148.1_Silent_p.S2072S|ARID1B_ENST00000346085.5_Silent_p.S2032S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2019					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCAACATTTCCGGGCAGCTAG	0.552																																																	0													122	118	119					6																	157528371		2203	4296	6499	SO:0001819	synonymous_variant	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6057C>T	6.37:g.157528371C>T			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S2072	ENST00000350026.5	37	c.6216	CCDS5251.2	6																																																																																			ARID1B	-	pfam_DUF3518	ENSG00000049618		0.552	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1		0	39	0	C	NM_020732		157528371	1			no_errors	ENST00000367148	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.940	T	T	157528371	C	T	157528371	2	4	137	1	0	0	0	0	0	0	0	1	914	639	23	1		1	ARID1B	6	157528371	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	45626931	157528371	13586696	89	35007											
SYNJ2	8871	genome.wustl.edu	37	chr6	158492679	158492679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggcatggggggcaaggcGgggaacaagggcgccgtcgg	8	2	22	9	5	0	0	0	0	0	0	1	1	0	1	1	9	1	2	1	9	3	0	rs374135325		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr6:158492679G>A	ENST00000355585.4	+	15	2061	c.1986G>A	c.(1984-1986)gcG>gcA	p.A662A	SYNJ2_ENST00000367121.3_Silent_p.A662A|SYNJ2_ENST00000367122.2_Silent_p.A662A	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	662					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)		GGGGCAAGGCGGGGAACAAGG	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		19100	0		0	False		,,,				2504	0																0								G	,	1,4405	2.1+/-5.4	0,1,2202	79	77	77		1275,1986	-12.1	0.3	6		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SYNJ2	NM_001178088.1,NM_003898.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	425/1260,662/1497	158492679	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1986G>A	6.37:g.158492679G>A			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.A662	ENST00000355585.4	37	c.1986	CCDS5254.1	6																																																																																			SYNJ2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000078269		0.617	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	-	0	8	0	G			158492679	1	tier1	-	no_errors	ENST00000355585	ensembl	human	known	74_37	silent	50.00	10	10	SNP	1.000	A	A	158492679	G	A	158492679	2	1	137	1	0	0	0	0	0	0	0	1	15500	1103	39	1		1	SYNJ2	6	158492679	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	964308	158492679	12622388	90	35008											
COL28A1	340267	genome.wustl.edu	37	chr7	7412809	7412809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtttctctttatcacGagaatctgtctgtccatcag	8	16	7	10	1	6	1	3	0	3	1	8	2	7	1	1	0	0	1	1	0	2	3	rs201662547	byFrequency	TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr7:7412809G>T	ENST00000399429.3	-	32	2868	c.2728C>A	c.(2728-2730)Cgt>Agt	p.R910S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	910	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)		TCTTTATCACGAGAATCTGTC	0.458																																																	0													95	90	91					7																	7412809		1936	4131	6067	SO:0001583	missense	0			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.2728C>A	7.37:g.7412809G>T	ENSP00000382356:p.Arg910Ser		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.R910S	ENST00000399429.3	37	c.2728	CCDS43553.1	7	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808650	0.50421	.	.	ENSG00000215018	ENST00000399429	T	0.76186	-1.0	4.09	4.09	0.47781	von Willebrand factor, type A (3);	0.095709	0.40302	U	0.001130	D	0.85141	0.5629	M	0.81942	2.565	0.43879	D	0.996498	D	0.59767	0.986	D	0.73708	0.981	T	0.83261	-0.0048	10	0.20046	T	0.44	-4.4705	16.8665	0.86030	0.0:0.0:1.0:0.0	.	910	Q2UY09	COSA1_HUMAN	S	910	ENSP00000382356:R910S	ENSP00000382356:R910S	R	-	1	0	COL28A1	7379334	0.177000	0.23109	0.425000	0.26659	0.565000	0.35776	1.429000	0.34903	2.284000	0.76573	0.655000	0.94253	CGT	COL28A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000215018		0.458	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	HGNC	protein_coding	OTTHUMT00000315899.1		0	34	0	G	NM_001037763		7412809	-1			no_errors	ENST00000399429	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.927	T	T	7412809	G	T	7412809	3	4	137	1	0	0	0	0	1	0	0	0	3693	1058	37	2	665	2	COL28A1	7	7412809	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09		7412809	151725854	91	35009											
AVL9	23080	genome.wustl.edu	37	chr7	32591907	32591907	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggatcccaagtatatcttGgtaagtaactgacttacaag	15	11	8	7	0	1	1	0	1	1	0	2	2	2	2	1	2	2	3	1	2	8	6			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr7:32591907G>T	ENST00000318709.4	+	6	750	c.529G>T	c.(529-531)Ggt>Tgt	p.G177C	AVL9_ENST00000404479.1_Splice_Site_p.G177C|AVL9_ENST00000409301.1_Splice_Site_p.G177C	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	177					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						AGTATATCTTGGTAAGTAACT	0.318																																																	0													45	46	46					7																	32591907		2203	4296	6499	SO:0001630	splice_region_variant	0			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.529+1G>T	7.37:g.32591907G>T			Q92573	Missense_Mutation	SNP	pfam_ABL9/DENND6_dom,pfam_DUF2347	p.G177C	ENST00000318709.4	37	c.529	CCDS34613.1	7	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550649	0.86127	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.41	5.41	0.78517	.	0.047144	0.85682	D	0.000000	T	0.76877	0.4049	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.91635	0.999;0.905;0.994	T	0.79495	-0.1780	9	.	.	.	-18.1539	17.747	0.88423	0.0:0.0:1.0:0.0	.	177;177;177	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	C	177;177;177;177;108	ENSP00000315568:G177C;ENSP00000387011:G177C;ENSP00000385242:G177C;ENSP00000395134:G108C	.	G	+	1	0	AVL9	32558432	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.070000	0.71220	2.700000	0.92200	0.650000	0.86243	GGT	AVL9	-	pfam_ABL9/DENND6_dom	ENSG00000105778		0.318	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	AVL9	HGNC	protein_coding	OTTHUMT00000328643.1	-	0	80	0	G	NM_015060	Missense_Mutation	32591907	1	tier1	-	no_errors	ENST00000404479	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	32591907	G	T	32591907	5	4	137	1	0	0	0	0	0	0	1	0	1229	1362	47	3	551	3	AVL9	7	32591907	Splice_Site	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	25179098	32591907	126546756	92	35010											
FKBP9	11328	genome.wustl.edu	37	chr7	33014253	33014253	+	Silent	SNP	T	T	C	0	1	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	gacagagactccactttcaaTgtgtttgtgggaaaaggaca	13	10	11	7	0	1	1	1	0	0	1	2	5	2	3	1	2	0	1	1	2	3	2	rs200712661		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr7:33014253T>C	ENST00000242209.4	+	2	415	c.246T>C	c.(244-246)aaT>aaC	p.N82N	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Intron|FKBP9_ENST00000538336.1_Silent_p.N135N	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	82	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CCACTTTCAATGTGTTTGTGG	0.453																																																	0													146	145	146					7																	33014253		2203	4300	6503	SO:0001819	synonymous_variant	0			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.246T>C	7.37:g.33014253T>C			B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.N135	ENST00000242209.4	37	c.405	CCDS5439.1	7																																																																																			FKBP9	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000122642		0.453	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP9	HGNC	protein_coding	OTTHUMT00000215137.1		0	103	0	T	NM_007270		33014253	1			no_errors	ENST00000538336	ensembl	human	known	74_37	silent	6.10	77	5	SNP	0.990	C	C	33014253	T	C	33014253	2	2	137	1	0	0	0	0	0	0	0	1	5937	1461	51	4		4	FKBP9	7	33014253	Silent	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	422346	33014253	126124410	93	35011											
PKD1L1	168507	genome.wustl.edu	37	chr7	47933653	47933653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccacactgccttcaatctGaacctgcaggggcaaggaag	12	6	10	13	0	2	1	1	1	1	0	2	2	2	2	3	3	3	2	3	3	4	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr7:47933653G>C	ENST00000289672.2	-	15	2325	c.2275C>G	c.(2275-2277)Cag>Gag	p.Q759E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	759	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCTTCAATCTGAACCTGCAGG	0.552																																																	0													74	58	64					7																	47933653		2203	4300	6503	SO:0001583	missense	0			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.2275C>G	7.37:g.47933653G>C	ENSP00000289672:p.Gln759Glu		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.Q759E	ENST00000289672.2	37	c.2275	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	g	14.20	2.463856	0.43736	.	.	ENSG00000158683	ENST00000289672	T	0.68903	-0.36	5.23	4.26	0.50523	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.000000	0.48286	D	0.000183	T	0.76948	0.4059	M	0.61703	1.905	0.27330	N	0.956799	D	0.76494	0.999	D	0.70227	0.968	T	0.68078	-0.5504	10	0.30854	T	0.27	-12.6629	14.146	0.65351	0.0:0.0:0.8395:0.1604	.	759	Q8TDX9	PK1L1_HUMAN	E	759	ENSP00000289672:Q759E	ENSP00000289672:Q759E	Q	-	1	0	PKD1L1	47900178	1.000000	0.71417	0.834000	0.33040	0.271000	0.26615	4.424000	0.59868	2.462000	0.83206	0.543000	0.68304	CAG	PKD1L1	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000158683		0.552	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	-	0	16	0	G	NM_138295		47933653	-1	tier1	-	no_errors	ENST00000289672	ensembl	human	known	74_37	missense	45.45	6	5	SNP	0.998	C	C	47933653	G	C	47933653	3	2	137	1	0	0	0	0	1	0	0	0	12003	1299	45	5	6446	5	PKD1L1	7	47933653	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	14919400	47933653	111205010	94	35012											
GRB10	2887	genome.wustl.edu	37	chr7	50686896	50686896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaaagaactcgtattttgCgtaattcttcctgaatagaa	13	16	6	6	2	1	3	0	1	1	2	3	3	2	3	1	0	2	2	1	0	8	9			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr7:50686896C>T	ENST00000401949.1	-	9	1217	c.748G>A	c.(748-750)Gca>Aca	p.A250T	GRB10_ENST00000439599.1_Missense_Mutation_p.A244T|GRB10_ENST00000407526.1_Missense_Mutation_p.A192T|GRB10_ENST00000398812.2_Missense_Mutation_p.A250T|GRB10_ENST00000402578.1_Missense_Mutation_p.A192T|GRB10_ENST00000335866.3_Missense_Mutation_p.A192T|GRB10_ENST00000398810.2_Missense_Mutation_p.A192T|GRB10_ENST00000403097.1_Missense_Mutation_p.A244T|GRB10_ENST00000402497.1_Missense_Mutation_p.A192T|GRB10_ENST00000357271.5_Missense_Mutation_p.A250T|GRB10_ENST00000406641.1_Missense_Mutation_p.A192T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	250	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TCGTATTTTGCGTAATTCTTC	0.443									Russell-Silver syndrome																																								0													104	103	104					7																	50686896		1895	4120	6015	SO:0001583	missense	0	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.748G>A	7.37:g.50686896C>T	ENSP00000385770:p.Ala250Thr		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.A250T	ENST00000401949.1	37	c.748	CCDS43582.1	7	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096212	0.76870	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497;ENST00000428711	T;T;T;T;T;T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.77	5.77	0.91146	Ras-association (2);	0.047801	0.85682	D	0.000000	D	0.87916	0.6298	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.77004	0.93;0.989;0.875	D	0.88028	0.2773	10	0.56958	D	0.05	-14.1157	19.9837	0.97340	0.0:1.0:0.0:0.0	.	244;250;250	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	T	250;244;192;192;192;244;192;250;192;250;192;66	ENSP00000381793:A250T;ENSP00000406716:A244T;ENSP00000338543:A192T;ENSP00000381790:A192T;ENSP00000385189:A192T;ENSP00000385544:A244T;ENSP00000385366:A192T;ENSP00000349818:A250T;ENSP00000385046:A192T;ENSP00000385770:A250T;ENSP00000385748:A192T;ENSP00000410920:A66T	ENSP00000338543:A192T	A	-	1	0	GRB10	50654390	1.000000	0.71417	0.988000	0.46212	0.110000	0.19582	7.818000	0.86416	2.723000	0.93209	0.655000	0.94253	GCA	GRB10	-	smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000106070		0.443	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB10	HGNC	protein_coding	OTTHUMT00000319157.1		0	47	0	C			50686896	-1			no_errors	ENST00000398812	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	50686896	C	T	50686896	3	4	137	1	0	0	0	0	1	0	0	0	6783	768	27	1	1080	1	GRB10	7	50686896	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	2753243	50686896	108451767	95	35013											
CCDC146	57639	genome.wustl.edu	37	chr7	76903894	76903894	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaacatgaaagagctagtAgtcaaccttctccgcatgac	15	8	8	10	1	2	3	1	2	1	1	3	4	2	3	2	0	3	3	2	0	6	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr7:76903894A>T	ENST00000285871.4	+	11	1492	c.1365A>T	c.(1363-1365)gtA>gtT	p.V455V	CCDC146_ENST00000431197.1_Silent_p.V169V|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	455										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)				AAGAGCTAGTAGTCAACCTTC	0.338																																																	0													59	57	58					7																	76903894		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1365A>T	7.37:g.76903894A>T			A8K8X6|Q9P223	Silent	SNP	NULL	p.V455	ENST00000285871.4	37	c.1365	CCDS34671.1	7																																																																																			CCDC146	-	NULL	ENSG00000135205		0.338	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	-	0	22	0	A	NM_020879		76903894	1	tier1	-	no_errors	ENST00000285871	ensembl	human	known	74_37	silent	48.39	16	15	SNP	0.003	T	T	76903894	A	T	76903894	2	4	137	1	0	0	0	0	0	0	0	1	2787	407	15	5		5	CCDC146	7	76903894	Silent	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	26216998	76903894	82234769	96	35014											
AKAP9	10142	genome.wustl.edu	37	chr7	91670145	91670145	+	Missense_Mutation	SNP	A	A	T	1	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	agcacatatgcggcaaatggAgagacagcgagaagaccagg	16	3	14	8	2	0	3	0	0	0	3	0	6	0	4	1	3	3	2	1	3	3	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr7:91670145A>T	ENST00000359028.2	+	19	5111	c.4886A>T	c.(4885-4887)gAg>gTg	p.E1629V	AKAP9_ENST00000358100.2_Missense_Mutation_p.E1629V|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1617V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1629					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)			CGGCAAATGGAGAGACAGCGA	0.448			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													132	121	125					7																	91670145		2203	4300	6503	SO:0001583	missense	0			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.4886A>T	7.37:g.91670145A>T	ENSP00000351922:p.Glu1629Val		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.E1629V	ENST00000359028.2	37	c.4886		7	.	.	.	.	.	.	.	.	.	.	A	16.82	3.229883	0.58777	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.04275	3.71;3.67;3.66	5.37	5.37	0.77165	.	0.000000	0.40222	N	0.001160	T	0.21145	0.0509	M	0.74258	2.255	0.47819	D	0.999526	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.996;0.996;0.999	T	0.00231	-1.1896	10	0.72032	D	0.01	.	14.2372	0.65934	1.0:0.0:0.0:0.0	.	1629;1617;1617;1629	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	V	1617;1629;1629;1629;1629	ENSP00000348573:E1617V;ENSP00000351922:E1629V;ENSP00000350813:E1629V	ENSP00000348573:E1617V	E	+	2	0	AKAP9	91508081	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.989000	0.70587	2.158000	0.67659	0.477000	0.44152	GAG	AKAP9	-	NULL	ENSG00000127914		0.448	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0	46	0	A	NM_005751		91670145	1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	T	T	91670145	A	T	91670145	3	4	137	1	0	0	0	0	1	0	0	0	459	304	11	5	4920	5	AKAP9	7	91670145	Missense_Mutation	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	14766251	91670145	67468518	97	35015											
CPA1	1357	genome.wustl.edu	37	chr7	130025029	130025029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctcggagacttaccacgGcaagtttgccaattccgaag	10	9	10	12	3	0	1	0	0	0	1	2	3	1	1	3	2	3	3	3	2	4	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr7:130025029G>A	ENST00000011292.3	+	8	980	c.830G>A	c.(829-831)gGc>gAc	p.G277D	CPA1_ENST00000484324.1_Missense_Mutation_p.G189D	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	277					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)					ACTTACCACGGCAAGTTTGCC	0.562																																																	0													117	103	108					7																	130025029		2203	4300	6503	SO:0001583	missense	0				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.830G>A	7.37:g.130025029G>A	ENSP00000011292:p.Gly277Asp		A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.G277D	ENST00000011292.3	37	c.830	CCDS5820.1	7	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585455	0.86748	.	.	ENSG00000091704	ENST00000011292;ENST00000476062;ENST00000484324	T;T;T	0.07114	3.22;3.22;3.22	5.63	5.63	0.86233	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.50837	0.1639	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73094	-0.4091	10	0.87932	D	0	.	18.6739	0.91521	0.0:0.0:1.0:0.0	.	277;189	P15085;C9JUF9	CBPA1_HUMAN;.	D	277;189;189	ENSP00000011292:G277D;ENSP00000419408:G189D;ENSP00000419497:G189D	ENSP00000011292:G277D	G	+	2	0	CPA1	129812265	1.000000	0.71417	0.730000	0.30809	0.642000	0.38348	9.476000	0.97823	2.660000	0.90430	0.561000	0.74099	GGC	CPA1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000091704		0.562	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA1	HGNC	protein_coding	OTTHUMT00000349736.2		0	36	0	G	NM_001868		130025029	1			no_errors	ENST00000011292	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	A	A	130025029	G	A	130025029	3	1	137	1	0	0	0	0	1	0	0	0	3796	1203	42	3	860	3	CPA1	7	130025029	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	38354884	130025029	29113634	98	35016											
TRPV6	55503	genome.wustl.edu	37	chr7	142574200	142574200	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagccagcttgaaaggggtGagaccctggtgattgggcac	9	7	15	10	0	0	3	0	3	0	1	0	4	0	3	3	4	2	2	3	4	1	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr7:142574200G>A	ENST00000359396.3	-	6	968	c.723C>T	c.(721-723)ctC>ctT	p.L241L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	241					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGAAAGGGGTGAGACCCTGGT	0.572																																																	0													118	104	109					7																	142574200		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.723C>T	7.37:g.142574200G>A			A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.L241	ENST00000359396.3	37	c.723	CCDS5874.1	7																																																																																			TRPV6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000165125		0.572	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	-	0	98	0	G	NM_014274		142574200	-1	tier1	-	no_errors	ENST00000359396	ensembl	human	known	74_37	silent	26.61	78	29	SNP	1.000	A	A	142574200	G	A	142574200	2	1	137	1	0	0	0	0	0	0	0	1	16648	1277	45	3		3	TRPV6	7	142574200	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	12549171	142574200	16564463	99	35017											
CTAGE6P	340307	genome.wustl.edu	37	chr7	143453971	143453971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgatgtgattttctttatCattcagaacttgttctgcgt	7	20	7	7	1	4	3	2	2	2	1	4	3	4	3	0	0	2	1	0	0	2	8			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr7:143453971C>T	ENST00000470691.2	-	1	818	c.781G>A	c.(781-783)Gat>Aat	p.D261N	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	261						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					TTTTCTTTATCATTCAGAACT	0.398																																																	0													2	1	1					7																	143453971		707	1680	2387	SO:0001583	missense	0			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.781G>A	7.37:g.143453971C>T	ENSP00000474388:p.Asp261Asn		A4FU29|Q3ZCM5	Missense_Mutation	SNP	superfamily_tRNA-bd_arm	p.D261N	ENST00000470691.2	37	c.781		7																																																																																			CTAGE6	-	superfamily_tRNA-bd_arm	ENSG00000271321		0.398	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	CTAGE6	HGNC	protein_coding	OTTHUMT00000349580.2	-	0	156	0	C	NM_178561		143453971	-1	tier1	-	no_errors	ENST00000470691	ensembl	human	known	74_37	missense	11.45	147	19	SNP	0.088	T	T	143453971	C	T	143453971	3	4	137	1	0	0	0	0	1	0	0	0	4004	826	29	3	1556	3	CTAGE6P	7	143453971	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	879771	143453971	15684692	100	35018											
DPP6	1804	genome.wustl.edu	37	chr7	154684078	154684078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagccattactttaccagctCcagcctcaaacagcatctgt	12	10	5	14	0	2	0	1	0	1	0	3	0	3	0	4	0	7	2	4	0	4	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr7:154684078C>G	ENST00000377770.3	+	26	2627	c.2486C>G	c.(2485-2487)tCc>tGc	p.S829C	DPP6_ENST00000332007.3_Missense_Mutation_p.S767C|DPP6_ENST00000404039.1_Missense_Mutation_p.S765C|DPP6_ENST00000427557.1_Missense_Mutation_p.S722C			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	829					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)			TTTACCAGCTCCAGCCTCAAA	0.527																																					NSCLC(125;1384 1783 2490 7422 34254)												0													104	111	109					7																	154684078		2069	4201	6270	SO:0001583	missense	0			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.2486C>G	7.37:g.154684078C>G	ENSP00000367001:p.Ser829Cys			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.S829C	ENST00000377770.3	37	c.2486		7	.	.	.	.	.	.	.	.	.	.	C	8.827	0.939033	0.18281	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.66	0.695	0.18070	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.972834	0.08488	N	0.938357	T	0.37679	0.1012	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.30763	0.281;0.25;0.294;0.294	P;B;B;B	0.47981	0.563;0.181;0.276;0.276	T	0.53620	-0.8413	10	0.56958	D	0.05	-2.8766	3.7489	0.08559	0.2895:0.4695:0.0:0.241	.	722;767;829;765	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	C	765;829;767;722	ENSP00000385578:S765C;ENSP00000367001:S829C;ENSP00000328226:S767C;ENSP00000397303:S722C	ENSP00000328226:S767C	S	+	2	0	DPP6	154315011	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.510000	0.22723	-0.175000	0.10725	-0.136000	0.14681	TCC	DPP6	-	pfam_Peptidase_S9	ENSG00000130226		0.527	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	-	0	60	0	C	NM_130797		154684078	1	tier1	-	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	18.28	76	17	SNP	0.001	G	G	154684078	C	G	154684078	3	3	137	1	0	0	0	0	1	0	0	0	4744	855	30	5	2704	5	DPP6	7	154684078	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	11230107	154684078	4454585	101	35019											
KIF13B	23303	genome.wustl.edu	37	chr8	28997678	28997678	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaacatcaccactgagtcGcatcacctccacgtgcagcc	10	6	6	19	2	2	1	2	1	0	0	4	1	3	1	5	0	3	2	5	0	1	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr8:28997678G>A	ENST00000524189.1	-	21	2553	c.2515C>T	c.(2515-2517)Cga>Tga	p.R839*	CTD-2647L4.1_ENST00000523661.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA|RN7SL781P_ENST00000582428.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	839					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)		CCACTGAGTCGCATCACCTCC	0.552																																																	0													58	60	59					8																	28997678		2185	4285	6470	SO:0001587	stop_gained	0			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.2515C>T	8.37:g.28997678G>A	ENSP00000427900:p.Arg839*		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R839*	ENST00000524189.1	37	c.2515	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.767530	0.96914	.	.	ENSG00000197892	ENST00000524189	.	.	.	4.8	2.9	0.33743	.	0.128286	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1725	0.59606	0.0:0.0:0.7087:0.2913	.	.	.	.	X	839	.	ENSP00000427900:R839X	R	-	1	2	KIF13B	29053597	1.000000	0.71417	0.955000	0.39395	0.036000	0.12997	1.131000	0.31406	0.551000	0.29008	0.655000	0.94253	CGA	KIF13B	-	NULL	ENSG00000197892		0.552	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	-	0	24	0	G			28997678	-1	tier1	-	no_errors	ENST00000524189	ensembl	human	known	74_37	nonsense	42.86	8	6	SNP	0.917	A	A	28997678	G	A	28997678	4	1	137	1	0	0	0	0	0	1	0	0	8302	1095	38	1	3045	1	KIF13B	8	28997678	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09		28997678	117366344	102	35020											
KCNU1	157855	genome.wustl.edu	37	chr8	36788577	36788577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaagtctatggtgtggcaGatagctgcacgtcgctcttg	9	12	12	8	2	2	1	0	0	2	1	3	1	2	1	0	2	2	4	0	2	4	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr8:36788577G>A	ENST00000399881.3	+	25	2882	c.2845G>A	c.(2845-2847)Gat>Aat	p.D949N	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	949					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)		TGGTGTGGCAGATAGCTGCAC	0.443																																																	0													127	122	123					8																	36788577		1930	4142	6072	SO:0001583	missense	0			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.2845G>A	8.37:g.36788577G>A	ENSP00000382770:p.Asp949Asn			Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.D949N	ENST00000399881.3	37	c.2845	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	11.36	1.616724	0.28801	.	.	ENSG00000215262	ENST00000399881	T	0.30981	1.51	5.41	-1.82	0.07857	.	3.026090	0.02524	U	0.092907	T	0.26448	0.0646	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.19451	-1.0305	10	0.44086	T	0.13	-2.9268	6.1612	0.20366	0.4453:0.1313:0.4234:0.0	.	949	A8MYU2	KCNU1_HUMAN	N	949	ENSP00000382770:D949N	ENSP00000382770:D949N	D	+	1	0	KCNU1	36907735	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.126000	0.10563	-0.809000	0.04381	0.650000	0.86243	GAT	KCNU1	-	NULL	ENSG00000215262		0.443	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1		0	73	0	G	NM_001031836		36788577	1			no_errors	ENST00000399881	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.000	A	A	36788577	G	A	36788577	3	1	137	1	0	0	0	0	1	0	0	0	8120	942	33	3	2943	3	KCNU1	8	36788577	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	7790899	36788577	109575445	103	35021											
CHD7	55636	genome.wustl.edu	37	chr8	61743025	61743025	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattaccgagccatccttGagaagaatttcacatttctt	13	14	5	9	1	2	2	1	1	1	2	3	4	3	2	3	0	2	0	3	0	5	6			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr8:61743025G>T	ENST00000423902.2	+	15	4146	c.3667G>T	c.(3667-3669)Gag>Tag	p.E1223*	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1223					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)			AGCCATCCTTGAGAAGAATTT	0.393																																																	0													119	115	116					8																	61743025		1866	4102	5968	SO:0001587	stop_gained	0			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.3667G>T	8.37:g.61743025G>T	ENSP00000392028:p.Glu1223*		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1223*	ENST00000423902.2	37	c.3667	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	47	13.349847	0.99736	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.4739	19.6762	0.95934	0.0:0.0:1.0:0.0	.	.	.	.	X	1223	.	ENSP00000307304:E1223X	E	+	1	0	CHD7	61905579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.729000	0.93468	0.591000	0.81541	GAG	CHD7	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000171316		0.393	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0	29	0	G	XM_098762		61743025	1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	1.000	T	T	61743025	G	T	61743025	4	4	137	1	0	0	0	0	0	1	0	0	3337	1291	45	3	3721	3	CHD7	8	61743025	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	24954448	61743025	84620997	104	35022											
PEX2	5828	genome.wustl.edu	37	chr8	77895531	77895531	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctgacatctcgattcctGatttcagtggctgcagactg	7	14	9	11	1	3	3	1	2	2	1	5	4	4	3	1	1	1	2	1	1	0	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr8:77895531G>C	ENST00000419564.2	-	4	1348	c.884C>G	c.(883-885)tCa>tGa	p.S295*	PEX2_ENST00000357039.4_Nonsense_Mutation_p.S295*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.S295*|PEX2_ENST00000520103.1_Nonsense_Mutation_p.S295*	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	295					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						CTCGATTCCTGATTTCAGTGG	0.353																																																	0													99	101	100					8																	77895531		2203	4300	6503	SO:0001587	stop_gained	0			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.884C>G	8.37:g.77895531G>C	ENSP00000400984:p.Ser295*		Q567S6|Q9BW41	Nonsense_Mutation	SNP	pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING	p.S295*	ENST00000419564.2	37	c.884	CCDS6221.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.682377	0.98431	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	.	.	.	5.35	4.49	0.54785	.	0.529631	0.20641	N	0.088411	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-16.1962	5.1766	0.15139	0.1651:0.0:0.627:0.2079	.	.	.	.	X	295	.	ENSP00000349543:S295X	S	-	2	0	PEX2	78058086	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.002000	0.63952	1.507000	0.48752	0.557000	0.71058	TCA	PEX2	-	NULL	ENSG00000164751		0.353	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX2	HGNC	protein_coding	OTTHUMT00000379122.1	-	0	53	0	G	NM_000318		77895531	-1	tier1	-	no_errors	ENST00000357039	ensembl	human	known	74_37	nonsense	25.00	30	10	SNP	0.989	C	C	77895531	G	C	77895531	4	2	137	1	0	0	0	0	0	1	0	0	11784	1294	45	5	37	5	PEX2	8	77895531	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	16152506	77895531	68468491	105	35023											
CNBD1	168975	genome.wustl.edu	37	chr8	88296977	88296977	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggaaacacagatgttctcGgtggtgacagaagacgattg	12	9	13	7	3	1	4	0	1	1	3	3	6	1	5	0	3	1	1	0	3	2	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr8:88296977G>T	ENST00000518476.1	+	7	894	c.843G>T	c.(841-843)tcG>tcT	p.S281S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	281										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGATGTTCTCGGTGGTGACAG	0.353																																																	0													71	67	68					8																	88296977		1848	4085	5933	SO:0001819	synonymous_variant	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.843G>T	8.37:g.88296977G>T				Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.S281	ENST00000518476.1	37	c.843	CCDS55259.1	8																																																																																			CNBD1	-	superfamily_cNMP-bd-like	ENSG00000176571		0.353	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2		0	17	0	G	NM_173538		88296977	1			no_errors	ENST00000518476	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.000	T	T	88296977	G	T	88296977	2	4	137	1	0	0	0	0	0	0	0	1	3598	1103	39	2		2	CNBD1	8	88296977	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	10401446	88296977	58067045	106	35024											
OTUD6B	51633	genome.wustl.edu	37	chr8	92086058	92086058	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgctttttgtttccttcaGatagattctgttgctgttaa	8	20	7	6	0	2	2	1	0	1	2	3	2	3	2	1	0	2	5	1	0	3	8			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr8:92086058G>C	ENST00000285420.4	+	3	423		c.e3-1		OTUD6B_ENST00000404789.3_Splice_Site	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B								cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GTTTCCTTCAGATAGATTCTG	0.333																																																	0													94	83	87					8																	92086058		2202	4298	6500	SO:0001630	splice_region_variant	0				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.325-1G>C	8.37:g.92086058G>C			A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Splice_Site	SNP	-	e3-1	ENST00000285420.4	37	c.325-1	CCDS6253.2	8	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137998	0.77775	.	.	ENSG00000155100	ENST00000285420	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0599	0.93085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTUD6B	92155234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.271000	0.72569	2.941000	0.99782	0.655000	0.94253	.	OTUD6B	-	-	ENSG00000155100		0.333	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OTUD6B	HGNC	protein_coding	OTTHUMT00000319968.1	-	0	32	0	G	NM_016023	Intron	92086058	1	tier1	-	no_errors	ENST00000285420	ensembl	human	known	74_37	splice_site	41.94	18	13	SNP	1.000	C	C	92086058	G	C	92086058	5	2	137	1	0	0	0	0	0	0	1	0	11356	956	33	5	334	5	OTUD6B	8	92086058	Splice_Site	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	3789081	92086058	54277964	107	35025											
RIMS2	9699	genome.wustl.edu	37	chr8	104898029	104898029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatctatatcagaacgtaGagctgccatggaaaatcagc	16	8	9	8	1	3	3	2	0	1	3	3	4	3	4	1	1	4	2	1	1	7	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr8:104898029G>C	ENST00000436393.2	+	2	777	c.536G>C	c.(535-537)aGa>aCa	p.R179T	RIMS2_ENST00000406091.3_Missense_Mutation_p.R401T|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000507740.1_Missense_Mutation_p.R209T|RIMS2_ENST00000262231.10_Missense_Mutation_p.R209T			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	432	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)			TCAGAACGTAGAGCTGCCATG	0.433										HNSCC(12;0.0054)																																							0													72	69	70					8																	104898029		1922	4130	6052	SO:0001583	missense	0			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.536G>C	8.37:g.104898029G>C	ENSP00000390665:p.Arg179Thr		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R401T	ENST00000436393.2	37	c.1202		8	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705203	0.68615	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.52	4.64	0.57946	.	.	.	.	.	T	0.56543	0.1992	L	0.48642	1.525	0.80722	D	1	P;D;P;P;D	0.69078	0.951;0.983;0.947;0.951;0.997	P;D;P;P;D	0.65773	0.497;0.938;0.835;0.721;0.925	T	0.59721	-0.7401	9	0.62326	D	0.03	.	15.7455	0.77936	0.0:0.0:0.8622:0.1378	.	432;179;209;209;401	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	T	401;432;401;432;209;209;209;209;179	ENSP00000427018:R401T;ENSP00000384892:R401T;ENSP00000425205:R209T;ENSP00000262231:R209T;ENSP00000423559:R209T;ENSP00000386228:R209T;ENSP00000390665:R179T	ENSP00000262231:R209T	R	+	2	0	RIMS2	104967205	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.176000	0.77643	1.312000	0.45043	0.467000	0.42956	AGA	RIMS2	-	NULL	ENSG00000176406		0.433	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	43	0	G	NM_001100117		104898029	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	30.77	18	8	SNP	1.000	C	C	104898029	G	C	104898029	3	2	137	1	0	0	0	0	1	0	0	0	13413	942	33	5	1342	5	RIMS2	8	104898029	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	12811971	104898029	41465993	108	35026											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110410724	110410724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgaatgtcacagaaaataGtatatgttgcaagacacccc	15	11	7	8	0	1	3	1	1	0	2	1	3	1	3	2	0	1	3	2	0	7	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr8:110410724G>C	ENST00000378402.5	+	12	1063	c.959G>C	c.(958-960)aGt>aCt	p.S320T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	320	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAGAAAATAGTATATGTTGC	0.353										HNSCC(38;0.096)																																							0													86	76	79					8																	110410724		1821	4074	5895	SO:0001583	missense	0			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.959G>C	8.37:g.110410724G>C	ENSP00000367655:p.Ser320Thr		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.S320T	ENST00000378402.5	37	c.959	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.446537	0.00178	.	.	ENSG00000205038	ENST00000378402	T	0.76316	-1.01	5.71	1.17	0.20885	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.403834	0.27280	N	0.020094	T	0.54967	0.1891	N	0.11845	0.185	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.32824	-0.9892	10	0.10902	T	0.67	.	10.7677	0.46303	0.0823:0.5137:0.404:0.0	.	320	Q86WI1	PKHL1_HUMAN	T	320	ENSP00000367655:S320T	ENSP00000367655:S320T	S	+	2	0	PKHD1L1	110479900	0.000000	0.05858	0.031000	0.17742	0.051000	0.14879	-0.956000	0.03865	0.300000	0.22699	0.563000	0.77884	AGT	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	53	0	G	NM_177531		110410724	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	26.15	48	17	SNP	0.001	C	C	110410724	G	C	110410724	3	2	137	1	0	0	0	0	1	0	0	0	12011	1029	36	5	1005	5	PKHD1L1	8	110410724	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	5512695	110410724	35953298	109	35027											
SNTB1	6641	genome.wustl.edu	37	chr8	121706059	121706059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgaggtgctgccccctaaccGaggggattcaggcggaggtg	7	7	17	10	2	1	1	1	1	0	0	1	4	1	3	3	6	3	1	3	6	1	2	rs373190531		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr8:121706059G>C	ENST00000395601.3	-	3	1075	c.661C>G	c.(661-663)Cgg>Ggg	p.R221G	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.R221G	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	221	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CCCCCTAACCGAGGGGATTCA	0.562																																																	0													93	93	93					8																	121706059		2203	4300	6503	SO:0001583	missense	0			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.661C>G	8.37:g.121706059G>C	ENSP00000378965:p.Arg221Gly		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.R221G	ENST00000395601.3	37	c.661	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205474	0.39003	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.54479	0.57;0.57	5.96	4.09	0.47781	Pleckstrin homology domain (2);	0.163403	0.56097	D	0.000030	T	0.46483	0.1395	L	0.59436	1.845	0.58432	D	0.999995	B;P	0.35272	0.035;0.493	B;B	0.31290	0.019;0.127	T	0.31613	-0.9937	10	0.18276	T	0.48	.	14.9914	0.71390	0.0:0.0:0.7324:0.2676	.	221;221	Q13884;Q13884-2	SNTB1_HUMAN;.	G	221	ENSP00000378965:R221G;ENSP00000431124:R221G	ENSP00000378965:R221G	R	-	1	2	SNTB1	121775240	0.999000	0.42202	0.115000	0.21578	0.030000	0.12068	4.102000	0.57776	0.757000	0.33036	0.655000	0.94253	CGG	SNTB1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000172164		0.562	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1		0	61	0	G	NM_021021		121706059	-1			no_errors	ENST00000395601	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.771	C	C	121706059	G	C	121706059	3	2	137	1	0	0	0	0	1	0	0	0	14917	1057	37	5	979	5	SNTB1	8	121706059	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	11295335	121706059	24657963	110	35028											
GSDMC	56169	genome.wustl.edu	37	chr8	130772830	130772830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatcatcatctgagatgaGaatggctgaatggaaaagaa	16	10	10	5	0	4	4	3	3	1	3	4	7	4	5	0	2	0	1	0	2	5	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr8:130772830G>C	ENST00000276708.4	-	6	1563	c.682C>G	c.(682-684)Ctc>Gtc	p.L228V		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	228						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TCTGAGATGAGAATGGCTGAA	0.398																																																	0													103	102	102					8																	130772830		2203	4300	6503	SO:0001583	missense	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.682C>G	8.37:g.130772830G>C	ENSP00000276708:p.Leu228Val		Q5XKF3|Q6P494	Missense_Mutation	SNP	pfam_Gasdermin	p.L228V	ENST00000276708.4	37	c.682	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	G	3.743	-0.053274	0.07362	.	.	ENSG00000147697	ENST00000276708	T	0.25414	1.8	3.66	2.79	0.32731	.	1.507810	0.04295	N	0.346300	T	0.25306	0.0615	L	0.46157	1.445	0.09310	N	1	B	0.25772	0.134	B	0.20767	0.031	T	0.23261	-1.0193	10	0.51188	T	0.08	.	7.1708	0.25717	0.1233:0.0:0.8767:0.0	.	228	Q9BYG8	GSDMC_HUMAN	V	228	ENSP00000276708:L228V	ENSP00000276708:L228V	L	-	1	0	GSDMC	130842012	0.007000	0.16637	0.005000	0.12908	0.002000	0.02628	0.851000	0.27751	1.125000	0.41998	0.585000	0.79938	CTC	GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.398	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	-	0	96	0	G			130772830	-1	tier1	-	no_errors	ENST00000276708	ensembl	human	known	74_37	missense	34.04	62	32	SNP	0.006	C	C	130772830	G	C	130772830	3	2	137	1	0	0	0	0	1	0	0	0	6845	942	33	5	880	5	GSDMC	8	130772830	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	9066771	130772830	15591192	111	35029											
BAI1	575	genome.wustl.edu	37	chr8	143546245	143546245	+	Frame_Shift_Del	DEL	C	C	-																															ccctgccgcgggacccctggCcccccgcggggatgtctgct																								rs569958433		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr8:143546245delC	ENST00000517894.1	+	2	1580	c.686delC	c.(685-687)gccfs	p.A229fs	BAI1_ENST00000323289.5_Frame_Shift_Del_p.A229fs			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	229					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)					ggacccctggccccccgcggg	0.736																																																	0													2	2	2					8																	143546245		972	2207	3179	SO:0001589	frameshift_variant	0			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.686delC	8.37:g.143546245delC	ENSP00000430945:p.Ala229fs			Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R231fs	ENST00000517894.1	37	c.686		8																																																																																			BAI1	-	NULL	ENSG00000181790		0.736	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3		0	10	0	C	NM_001702		143546245	1			no_errors	ENST00000323289	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.000	0	-	143546245	C	-	143546245	7	5	137	1	0	1	0	1	0	0	0	0	1299	739	26	0	688	0	BAI1	8	143546245	Frame_Shift_Del	DEL	C	TCGA-Q9-A6FU-01A-11D-A31U-09	12773415	143546245	2817777	112	35030											
RCL1	10171	genome.wustl.edu	37	chr9	4793197	4793197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtcaaaatccgaaagattCgggccagagacgacaacccg	14	4	10	13	5	1	2	1	0	0	2	3	5	2	2	4	1	1	0	4	1	4	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr9:4793197C>T	ENST00000381750.4	+	1	329	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	RCL1_ENST00000381732.3_Missense_Mutation_p.R36W	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	36					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CCGAAAGATTCGGGCCAGAGA	0.677																																																	0													27	24	25					9																	4793197		2202	4299	6501	SO:0001583	missense	0			AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.106C>T	9.37:g.4793197C>T	ENSP00000371169:p.Arg36Trp		D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2	p.R36W	ENST00000381750.4	37	c.106	CCDS6456.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.493237	0.96339	.	.	ENSG00000120158	ENST00000381750;ENST00000381732	.	.	.	5.61	5.61	0.85477	-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (2);RNA 3&apos (6);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.052700	0.85682	D	0.000000	D	0.87845	0.6280	H	0.95504	3.68	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.91006	0.4846	9	0.87932	D	0	-14.216	19.2541	0.93938	0.0:1.0:0.0:0.0	.	36	Q9Y2P8	RCL1_HUMAN	W	36	.	ENSP00000371151:R36W	R	+	1	2	RCL1	4783197	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.814000	0.48010	2.661000	0.90470	0.650000	0.86243	CGG	RCL1	-	pfam_RNA3'_phos_cyclase_dom,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2	ENSG00000120158		0.677	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCL1	HGNC	protein_coding	OTTHUMT00000051587.1	-	0	72	0	C	NM_005772		4793197	1	tier1	-	no_errors	ENST00000381750	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	T	T	4793197	C	T	4793197	3	4	137	1	0	0	0	0	1	0	0	0	13223	875	31	1	108	1	RCL1	9	4793197	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09		4793197	136420234	113	35031											
KIAA1797	54914	genome.wustl.edu	37	chr9	20951037	20951037	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttggtctccagtcaaatgcaGtctggcttcttggacatctt	7	15	9	10	0	5	0	1	0	4	0	6	1	5	1	1	3	1	2	1	3	1	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr9:20951037G>T	ENST00000380249.1	+	36	4355	c.3991G>T	c.(3991-3993)Gtc>Ttc	p.V1331F	FOCAD_ENST00000605086.1_Missense_Mutation_p.V767F|FOCAD_ENST00000338382.6_Missense_Mutation_p.V1331F	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1331						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GTCAAATGCAGTCTGGCTTCT	0.403																																																	0													247	229	236					9																	20951037		2203	4300	6503	SO:0001583	missense	0			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.3991G>T	9.37:g.20951037G>T	ENSP00000369599:p.Val1331Phe		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.V1331F	ENST00000380249.1	37	c.3991	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983761	0.35036	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.21932	1.98;1.98	5.87	-0.757	0.11054	Armadillo-type fold (1);	0.217143	0.46442	D	0.000290	T	0.11410	0.0278	N	0.22421	0.69	0.09310	N	1	B	0.18610	0.029	B	0.21546	0.035	T	0.16778	-1.0391	10	0.56958	D	0.05	-25.2342	5.4145	0.16365	0.307:0.0:0.5179:0.1751	.	1331	Q5VW36	K1797_HUMAN	F	1331	ENSP00000369599:V1331F;ENSP00000344307:V1331F	ENSP00000344307:V1331F	V	+	1	0	KIAA1797	20941037	0.976000	0.34144	0.510000	0.27712	0.901000	0.52897	0.794000	0.26958	-0.077000	0.12752	-1.144000	0.01866	GTC	FOCAD	-	pfam_DUF3028,superfamily_ARM-type_fold	ENSG00000188352		0.403	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	-	0	86	0	G	NM_017794		20951037	1	tier1	-	no_errors	ENST00000338382	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.224	T	T	20951037	G	T	20951037	3	4	137	1	0	0	0	0	1	0	0	0	8285	1029	36	3	4121	3	KIAA1797	9	20951037	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	16157840	20951037	120262394	114	35032											
C9orf24	84688	genome.wustl.edu	37	chr9	34381385	34381385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accgtaggcattgagccgctCcggcctaggagggcattcca	8	7	13	13	3	0	1	0	1	0	0	2	2	2	2	5	4	1	4	5	4	2	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr9:34381385C>G	ENST00000297623.2	-	4	652	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379127.1_Missense_Mutation_p.E17Q|C9orf24_ENST00000379124.1_Missense_Mutation_p.E17Q|C9orf24_ENST00000379126.3_Missense_Mutation_p.E17Q|C9orf24_ENST00000379133.3_Missense_Mutation_p.E17Q	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	152					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TTGAGCCGCTCCGGCCTAGGA	0.612																																																	0													146	129	135					9																	34381385		2203	4300	6503	SO:0001583	missense	0			BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"ciliated bronchial epithelium 1", "spermatid-specific manchette-related protein 1"					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.454G>C	9.37:g.34381385C>G	ENSP00000297623:p.Glu152Gln		Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Missense_Mutation	SNP	NULL	p.E152Q	ENST00000297623.2	37	c.454	CCDS6554.1	9	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566048	0.86439	.	.	ENSG00000164972	ENST00000297623;ENST00000379126;ENST00000379133;ENST00000379127;ENST00000379124	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.19	5.19	0.71726	.	0.214718	0.34460	N	0.003946	T	0.57431	0.2053	L	0.29908	0.895	0.34446	D	0.70017	D;D;D	0.76494	0.999;0.996;0.998	D;P;D	0.80764	0.964;0.858;0.994	T	0.67872	-0.5558	10	0.62326	D	0.03	-21.0114	15.7934	0.78384	0.0:1.0:0.0:0.0	.	17;152;17	Q8NCR6-2;Q8NCR6;Q8NCR6-3	.;CI024_HUMAN;.	Q	152;17;17;17;17	ENSP00000297623:E152Q;ENSP00000368421:E17Q;ENSP00000368428:E17Q;ENSP00000368422:E17Q;ENSP00000368419:E17Q	ENSP00000297623:E152Q	E	-	1	0	C9orf24	34371385	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	4.304000	0.59104	2.599000	0.87857	0.462000	0.41574	GAG	C9orf24	-	NULL	ENSG00000164972		0.612	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf24	HGNC	protein_coding	OTTHUMT00000001098.3	-	0	34	0	C	NM_147169		34381385	-1	tier1	-	no_errors	ENST00000297623	ensembl	human	known	74_37	missense	40.00	9	6	SNP	0.998	G	G	34381385	C	G	34381385	3	3	137	1	0	0	0	0	1	0	0	0	2482	864	30	5	456	5	C9orf24	9	34381385	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	13430348	34381385	106832046	115	35033											
PTAR1	375743	genome.wustl.edu	37	chr9	72374807	72374807	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcgttagtgatgtccttCacaacccgctgcaccagcac	10	8	9	14	2	1	1	1	1	0	0	2	1	2	1	3	1	3	4	3	1	3	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr9:72374807C>G	ENST00000340434.4	-	1	51	c.48G>C	c.(46-48)gtG>gtC	p.V16V	PTAR1_ENST00000377200.5_Silent_p.V16V|PTAR1_ENST00000472967.2_Silent_p.V16V	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	16					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						TGATGTCCTTCACAACCCGCT	0.731																																																	0													15	18	17					9																	72374807		2027	4142	6169	SO:0001819	synonymous_variant	0			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"Prenyltransferase alpha subunit repeat containing"	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.48G>C	9.37:g.72374807C>G			Q5T7V5|Q5T7V6	Silent	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.V16	ENST00000340434.4	37	c.48	CCDS47978.1	9																																																																																			PTAR1	-	NULL	ENSG00000188647		0.731	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTAR1	HGNC	protein_coding	OTTHUMT00000052582.4	-	0	85	0	C	NM_001099666		72374807	-1	tier1	-	no_errors	ENST00000340434	ensembl	human	known	74_37	silent	28.26	66	26	SNP	1.000	G	G	72374807	C	G	72374807	2	3	137	1	0	0	0	0	0	0	0	1	12766	813	29	5		5	PTAR1	9	72374807	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	37993422	72374807	68838624	116	35034											
WNK2	65268	genome.wustl.edu	37	chr9	95997225	95997225	+	Missense_Mutation	SNP	A	A	G	1	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	ggagtgccagaatgcggcccAgatctaccgcaaggtcacct	10	6	12	13	2	2	2	1	0	1	2	2	3	2	3	4	3	3	1	4	3	3	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr9:95997225A>G	ENST00000297954.4	+	4	1211	c.1211A>G	c.(1210-1212)cAg>cGg	p.Q404R	WNK2_ENST00000427277.2_Missense_Mutation_p.Q16R|WNK2_ENST00000349097.3_Missense_Mutation_p.Q16R|WNK2_ENST00000395477.2_Missense_Mutation_p.Q404R|WNK2_ENST00000395475.2_Missense_Mutation_p.Q390R|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	404	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						AATGCGGCCCAGATCTACCGC	0.587																																																	0													97	74	82					9																	95997225		2203	4300	6503	SO:0001583	missense	0			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.1211A>G	9.37:g.95997225A>G	ENSP00000297954:p.Gln404Arg		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q404R	ENST00000297954.4	37	c.1211		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.57|19.57	3.851579|3.851579	0.71719|0.71719	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000432730	T;T;T;T;T;T|.	0.26067|.	1.76;1.76;1.76;1.76;1.76;1.76|.	4.84|4.84	4.84|4.84	0.62591|0.62591	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|T	0.61689|0.61689	0.2367|0.2367	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.999;0.996;0.999;0.999;0.999|.	D;D;D;D;D|.	0.87578|.	0.997;0.993;0.994;0.997;0.998|.	T|T	0.59690|0.59690	-0.7407|-0.7407	10|5	0.87932|.	D|.	0|.	.|.	14.714|14.714	0.69254|0.69254	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	404;404;7;404;404|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;.;WNK2_HUMAN|.	R|G	404;404;404;390;16;16|400	ENSP00000412465:Q404R;ENSP00000297954:Q404R;ENSP00000378860:Q404R;ENSP00000378858:Q390R;ENSP00000297876:Q16R;ENSP00000411181:Q16R|.	ENSP00000297954:Q404R|.	Q|R	+|+	2|1	0|2	WNK2|WNK2	95037046|95037046	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	8.942000|8.942000	0.92970|0.92970	1.924000|1.924000	0.55735|0.55735	0.533000|0.533000	0.62120|0.62120	CAG|AGA	WNK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000165238		0.587	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	-	0	54	0	A	NM_006648		95997225	1	tier1	-	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	G	G	95997225	A	G	95997225	3	3	137	1	0	0	0	0	1	0	0	0	17427	188	7	4	1225	4	WNK2	9	95997225	Missense_Mutation	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	23622418	95997225	45216206	117	35035											
FAM22F	54754	genome.wustl.edu	37	chr9	97081163	97081163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccatgtgactccttgacagGagactctccagggagaccca	10	7	10	14	0	1	4	0	2	1	2	3	6	2	4	4	2	0	0	4	2	0	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr9:97081163G>C	ENST00000253262.4	-	7	1875	c.1855C>G	c.(1855-1857)Cct>Gct	p.P619A	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Missense_Mutation_p.P604A	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	619																	TCCTTGACAGGAGACTCTCCA	0.642																																																	0													7	6	6					9																	97081163		1727	3842	5569	SO:0001583	missense	0				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1855C>G	9.37:g.97081163G>C	ENSP00000253262:p.Pro619Ala		B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	NULL	p.P619A	ENST00000253262.4	37	c.1855	CCDS47994.1	9	.	.	.	.	.	.	.	.	.	.	G	6.689	0.495821	0.12762	.	.	ENSG00000130950	ENST00000253262;ENST00000341207;ENST00000375347	T;T	0.11930	2.74;2.73	1.52	1.52	0.23074	Nuclear Testis protein, C-terminal (1);	0.883949	0.09565	N	0.784994	T	0.13415	0.0325	L	0.55213	1.73	0.09310	N	1	B	0.34329	0.449	B	0.36567	0.228	T	0.28839	-1.0031	10	0.21540	T	0.41	.	6.5199	0.22269	0.0:0.0:1.0:0.0	.	619	A1L443	FA22F_HUMAN	A	619;604;453	ENSP00000253262:P619A;ENSP00000343865:P604A	ENSP00000253262:P619A	P	-	1	0	FAM22F	96120984	0.101000	0.21875	0.010000	0.14722	0.029000	0.11900	1.588000	0.36633	1.188000	0.43014	0.456000	0.33151	CCT	NUTM2F	-	NULL	ENSG00000130950		0.642	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUTM2F	HGNC	protein_coding	OTTHUMT00000053173.2	-	0	33	0	G	NM_017561		97081163	-1	tier1	-	no_errors	ENST00000253262	ensembl	human	known	74_37	missense	25.00	21	7	SNP	0.010	C	C	97081163	G	C	97081163	3	2	137	1	0	0	0	0	1	0	0	0	5564	1174	41	5	419	5	FAM22F	9	97081163	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	1083938	97081163	44132268	118	35036											
IKBKAP	8518	genome.wustl.edu	37	chr9	111659447	111659447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttatgaggatttatgctctCcatgactgctctcatagcat	9	15	7	10	0	2	2	1	2	2	0	4	3	2	3	1	1	3	3	1	1	3	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr9:111659447C>G	ENST00000374647.5	-	23	2789	c.2482G>C	c.(2482-2484)Gag>Cag	p.E828Q	IKBKAP_ENST00000537196.1_Missense_Mutation_p.E479Q	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	828					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|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)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTTATGCTCTCCATGACTGCT	0.473																																																	0													218	177	191					9																	111659447		2203	4300	6503	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2482G>C	9.37:g.111659447C>G	ENSP00000363779:p.Glu828Gln		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.E828Q	ENST00000374647.5	37	c.2482	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695590	0.48202	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.29917	1.55;1.55	5.35	4.39	0.52855	.	0.110120	0.64402	D	0.000009	T	0.28466	0.0704	L	0.33753	1.03	0.38324	D	0.943605	P	0.42908	0.793	P	0.46452	0.517	T	0.03017	-1.1082	10	0.16896	T	0.51	-22.7329	13.5597	0.61782	0.0:0.8026:0.1974:0.0	.	828	O95163	ELP1_HUMAN	Q	828;479	ENSP00000363779:E828Q;ENSP00000439367:E479Q	ENSP00000363779:E828Q	E	-	1	0	IKBKAP	110699268	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	4.438000	0.59961	2.660000	0.90430	0.467000	0.42956	GAG	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.473	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	-	0	46	0	C			111659447	-1	tier1	-	no_errors	ENST00000374647	ensembl	human	known	74_37	missense	26.79	41	15	SNP	1.000	G	G	111659447	C	G	111659447	3	3	137	1	0	0	0	0	1	0	0	0	7637	864	30	5	1576	5	IKBKAP	9	111659447	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	14578284	111659447	29553984	119	35037											
IKBKAP	8518	genome.wustl.edu	37	chr9	111670649	111670649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccacttccacccacagctcCcagtttcactgtagggtcag	8	10	7	16	0	2	0	2	0	0	0	5	0	5	0	4	1	1	3	4	1	1	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr9:111670649C>G	ENST00000374647.5	-	13	1703	c.1396G>C	c.(1396-1398)Gga>Cga	p.G466R	IKBKAP_ENST00000537196.1_Missense_Mutation_p.G117R	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	466					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|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)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCACAGCTCCCAGTTTCACT	0.383																																																	0													71	71	71					9																	111670649		2203	4300	6503	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1396G>C	9.37:g.111670649C>G	ENSP00000363779:p.Gly466Arg		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.G466R	ENST00000374647.5	37	c.1396	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238962	0.79800	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.26810	2.1;1.71	5.56	5.56	0.83823	.	0.241812	0.42420	D	0.000711	T	0.30070	0.0753	M	0.70595	2.14	0.39036	D	0.960048	B	0.31209	0.313	B	0.30105	0.111	T	0.12091	-1.0561	10	0.16896	T	0.51	-17.9115	17.0215	0.86435	0.0:1.0:0.0:0.0	.	466	O95163	ELP1_HUMAN	R	466;117	ENSP00000363779:G466R;ENSP00000439367:G117R	ENSP00000363779:G466R	G	-	1	0	IKBKAP	110710470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.327000	0.65881	2.605000	0.88082	0.655000	0.94253	GGA	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.383	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	-	0	37	0	C			111670649	-1	tier1	-	no_errors	ENST00000374647	ensembl	human	known	74_37	missense	67.50	13	27	SNP	1.000	G	G	111670649	C	G	111670649	3	3	137	1	0	0	0	0	1	0	0	0	7637	632	22	5	2702	5	IKBKAP	9	111670649	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	11202	111670649	29542782	120	35038											
CEP110	11064	genome.wustl.edu	37	chr9	123888025	123888025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatgaagccctgaagaaGgatttagaaggtgttatcag	15	9	12	5	0	1	4	1	2	0	2	1	5	1	5	1	2	1	2	1	2	7	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr9:123888025G>C	ENST00000373855.1	+	14	2096	c.1836G>C	c.(1834-1836)aaG>aaC	p.K612N	CNTRL_ENST00000373847.1_Missense_Mutation_p.K60N|CNTRL_ENST00000373850.1_Missense_Mutation_p.K60N|CNTRL_ENST00000238341.5_Missense_Mutation_p.K612N			Q7Z7A1	CNTRL_HUMAN	centriolin	612					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CCCTGAAGAAGGATTTAGAAG	0.443																																																	0													119	121	120					9																	123888025		2203	4300	6503	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1836G>C	9.37:g.123888025G>C	ENSP00000362962:p.Lys612Asn		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.K612N	ENST00000373855.1	37	c.1836	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166650	0.57476	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.33865	1.63;1.63;1.4;1.39	5.44	2.6	0.31112	.	.	.	.	.	T	0.39358	0.1075	L	0.29908	0.895	0.32496	N	0.539563	P;D;D	0.67145	0.456;0.996;0.994	B;P;P	0.60236	0.068;0.871;0.747	T	0.43442	-0.9391	9	0.28530	T	0.3	.	10.2091	0.43131	0.2184:0.0:0.7816:0.0	.	612;612;612	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	N	612;612;612;94;60;60	ENSP00000362962:K612N;ENSP00000238341:K612N;ENSP00000362956:K60N;ENSP00000362953:K60N	ENSP00000238341:K612N	K	+	3	2	CNTRL	122927846	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.726000	0.25984	0.670000	0.31165	0.650000	0.86243	AAG	CNTRL	-	NULL	ENSG00000119397		0.443	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	-	0	34	0	G	NM_007018		123888025	1	tier1	-	no_errors	ENST00000238341	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	C	C	123888025	G	C	123888025	3	2	137	1	0	0	0	0	1	0	0	0	3252	991	35	5	1882	5	CEP110	9	123888025	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	12217376	123888025	17325406	121	35039											
MAN1B1	11253	genome.wustl.edu	37	chr9	140002044	140002044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgttctacctgtaccGcgtcacaggggaccgcaaat	9	8	11	13	3	2	0	1	0	1	0	2	2	2	1	4	2	3	3	4	2	3	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr9:140002044G>A	ENST00000371589.4	+	12	1899	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Missense_Mutation_p.R312H	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	609					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)		TACCTGTACCGCGTCACAGGG	0.647																																																	0													110	100	103					9																	140002044		2203	4300	6503	SO:0001583	missense	0			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.1826G>A	9.37:g.140002044G>A	ENSP00000360645:p.Arg609His		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.R609H	ENST00000371589.4	37	c.1826	CCDS7029.1	9	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750328	0.89753	.	.	ENSG00000177239	ENST00000371589;ENST00000474902	D;D	0.89681	-2.55;-2.55	5.19	5.19	0.71726	.	.	.	.	.	D	0.95166	0.8433	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.97110	1.0;0.998;0.9	D	0.95466	0.8547	8	.	.	.	.	17.684	0.88251	0.0:0.0:1.0:0.0	.	496;282;609	B4DPS9;B3KXZ1;Q9UKM7	.;.;MA1B1_HUMAN	H	609;312	ENSP00000360645:R609H;ENSP00000447256:R312H	.	R	+	2	0	MAN1B1	139121865	1.000000	0.71417	0.949000	0.38748	0.718000	0.41266	9.109000	0.94291	2.443000	0.82685	0.561000	0.74099	CGC	MAN1B1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	ENSG00000177239		0.647	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1B1	HGNC	protein_coding	OTTHUMT00000055294.2	-	0	29	0	G	NM_016219		140002044	1	tier1	-	no_errors	ENST00000371589	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	A	A	140002044	G	A	140002044	3	1	137	1	0	0	0	0	1	0	0	0	9250	1087	38	1	1872	1	MAN1B1	9	140002044	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	16114019	140002044	1211387	122	35040											
SFMBT2	57713	genome.wustl.edu	37	chr10	7326113	7326113	+	Splice_Site	SNP	C	C	T	0	0	0	1	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	gggcctttccctcgcagaggCtgtttaaacagaagcaaaac	12	8	10	11	1	0	2	0	0	0	2	2	2	1	2	2	2	3	4	2	2	5	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr10:7326113C>T	ENST00000361972.4	-	6	616		c.e6-1		SFMBT2_ENST00000397167.1_Splice_Site	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2						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						CTCGCAGAGGCTGTTTAAACA	0.378																																																	0													60	60	60					10																	7326113		2202	4297	6499	SO:0001630	splice_region_variant	0			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.526-1G>A	10.37:g.7326113C>T			A7MD09|Q9HCF5	Splice_Site	SNP	-	e5-1	ENST00000361972.4	37	c.526-1	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	c	19.79	3.893328	0.72524	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4436	0.87572	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SFMBT2	7366119	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.421000	0.73353	2.195000	0.70347	0.431000	0.28591	.	SFMBT2	-	-	ENSG00000198879		0.378	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1		0	41	0	C	NM_001029880	Intron	7326113	-1			no_errors	ENST00000361972	ensembl	human	known	74_37	splice_site	9.38	29	3	SNP	1.000	T	T	7326113	C	T	7326113	5	4	137	1	0	0	0	0	0	0	1	0	14203	811	28	3	2223	3	SFMBT2	10	7326113	Splice_Site	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09		7326113	128208634	123	35041											
C1QL3	389941	genome.wustl.edu	37	chr10	16562630	16562630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggttggtgaccacgtcgtcGaacttgagcacctcgtagcc	8	9	12	12	4	0	2	0	2	0	0	3	3	0	2	3	2	3	3	3	2	2	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr10:16562630G>A	ENST00000298943.3	-	1	1374	c.435C>T	c.(433-435)ttC>ttT	p.F145F		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	145	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCACGTCGTCGAACTTGAGCA	0.627																																																	0													156	130	139					10																	16562630		2203	4300	6503	SO:0001819	synonymous_variant	0				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.435C>T	10.37:g.16562630G>A			A0PJY4|A0PJY5	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.F145	ENST00000298943.3	37	c.435	CCDS31156.1	10																																																																																			C1QL3	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000165985		0.627	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL3	HGNC	protein_coding	OTTHUMT00000047003.1	-	0	21	0	G	XM_372305		16562630	-1	tier1	-	no_errors	ENST00000298943	ensembl	human	known	74_37	silent	24.32	28	9	SNP	1.000	A	A	16562630	G	A	16562630	2	1	137	1	0	0	0	0	0	0	0	1	1967	1049	37	1		1	C1QL3	10	16562630	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	9236517	16562630	118972117	124	35042											
ARMC4	55130	genome.wustl.edu	37	chr10	28224072	28224072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggacaatgactcggttttCacgttcttggcagcattctc	7	13	9	12	3	3	1	1	1	2	0	5	2	3	2	1	3	1	4	1	3	1	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr10:28224072C>T	ENST00000305242.5	-	16	2454	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	ARMC4_ENST00000537576.1_Missense_Mutation_p.E480K|ARMC4_ENST00000545014.1_Missense_Mutation_p.E313K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	788					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACTCGGTTTTCACGTTCTTGG	0.448																																																	0													175	166	169					10																	28224072		2203	4300	6503	SO:0001583	missense	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2362G>A	10.37:g.28224072C>T	ENSP00000306410:p.Glu788Lys		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.E788K	ENST00000305242.5	37	c.2362	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380920	0.61845	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.41400	1.0;1.0;1.0	5.92	5.92	0.95590	Armadillo-like helical (1);Armadillo-type fold (1);	0.379769	0.30676	N	0.009104	T	0.44095	0.1277	L	0.43923	1.385	0.80722	D	1	B;B	0.28760	0.221;0.205	B;B	0.35971	0.139;0.215	T	0.15867	-1.0422	10	0.27785	T	0.31	-38.3414	20.3206	0.98668	0.0:1.0:0.0:0.0	.	313;788	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	K	480;788;313	ENSP00000443208:E480K;ENSP00000306410:E788K;ENSP00000441076:E313K	ENSP00000306410:E788K	E	-	1	0	ARMC4	28264078	0.991000	0.36638	0.963000	0.40424	0.851000	0.48451	4.049000	0.57397	2.809000	0.96659	0.655000	0.94253	GAA	ARMC4	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000169126		0.448	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	-	0	70	0	C	NM_018076		28224072	-1	tier1	-	no_errors	ENST00000305242	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.989	T	T	28224072	C	T	28224072	3	4	137	1	0	0	0	0	1	0	0	0	954	835	29	3	792	3	ARMC4	10	28224072	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	11661442	28224072	107310675	125	35043											
KIF5B	3799	genome.wustl.edu	37	chr10	32311947	32311947	+	Silent	SNP	G	G	A	0	0	1	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	gtgaactcttcatctatcatGccagttccctcaggctgctg	7	13	8	13	0	5	1	3	1	2	0	6	1	6	1	2	1	3	3	2	1	2	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr10:32311947G>A	ENST00000302418.4	-	16	2200	c.1743C>T	c.(1741-1743)ggC>ggT	p.G581G	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	581					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)				CATCTATCATGCCAGTTCCCT	0.348			T	"RET, ALK"	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													98	87	90					10																	32311947		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1743C>T	10.37:g.32311947G>A			A0AVB2|Q5VZ85	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G581	ENST00000302418.4	37	c.1743	CCDS7171.1	10																																																																																			KIF5B	-	superfamily_P-loop_NTPase	ENSG00000170759		0.348	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	-	0	58	0	G	NM_004521		32311947	-1	tier1	-	no_errors	ENST00000302418	ensembl	human	known	74_37	silent	29.63	38	16	SNP	1.000	A	A	32311947	G	A	32311947	2	1	137	1	0	0	0	0	0	0	0	1	8333	1306	46	3		3	KIF5B	10	32311947	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	4087875	32311947	103222800	126	35044											
RET	5979	genome.wustl.edu	37	chr10	43600603	43600603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccaccttccccgcgggcgtcGacaccgccagcgccgtggtg	4	5	13	19	7	0	0	0	0	0	0	2	1	1	0	7	2	1	0	7	2	0	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr10:43600603G>C	ENST00000355710.3	+	4	1061	c.829G>C	c.(829-831)Gac>Cac	p.D277H	RET_ENST00000340058.5_Missense_Mutation_p.D277H	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	277					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGCGGGCGTCGACACCGCCAG	0.687		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0													39	35	36					10																	43600603		2201	4300	6501	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.829G>C	10.37:g.43600603G>C	ENSP00000347942:p.Asp277His		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	p.D277H	ENST00000355710.3	37	c.829	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	g	22.2	4.264638	0.80358	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79749	-1.17;-1.3	4.73	3.74	0.42951	.	0.186902	0.56097	D	0.000028	D	0.84266	0.5434	L	0.55481	1.735	0.47659	D	0.999487	D;D;D	0.67145	0.996;0.996;0.987	P;P;D	0.64410	0.843;0.898;0.925	D	0.83764	0.0216	10	0.49607	T	0.09	.	10.5417	0.45037	0.1535:0.0:0.8465:0.0	.	23;277;277	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	H	277	ENSP00000347942:D277H;ENSP00000344798:D277H	ENSP00000344798:D277H	D	+	1	0	RET	42920609	1.000000	0.71417	0.932000	0.37286	0.989000	0.77384	3.191000	0.50981	2.450000	0.82876	0.556000	0.70494	GAC	RET	-	pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like	ENSG00000165731		0.687	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	-	0	47	0	G	NM_020975		43600603	1	tier1	-	no_errors	ENST00000355710	ensembl	human	known	74_37	missense	43.75	44	35	SNP	0.982	C	C	43600603	G	C	43600603	3	2	137	1	0	0	0	0	1	0	0	0	13280	1058	37	5	843	5	RET	10	43600603	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	11288656	43600603	91934144	127	35045											
ARID5B	84159	genome.wustl.edu	37	chr10	63851192	63851192	+	Missense_Mutation	SNP	T	T	G	0	1	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	ggtccagtcgtttgacatgtTcaaagacaaagacctgactg	12	10	10	9	1	1	4	1	2	0	2	3	4	2	4	2	1	0	2	2	1	2	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr10:63851192T>G	ENST00000279873.7	+	10	2380	c.1970T>G	c.(1969-1971)tTc>tGc	p.F657C	ARID5B_ENST00000309334.5_Missense_Mutation_p.F414C	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	657					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)	p.F657Y(1)		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)					TTTGACATGTTCAAAGACAAA	0.552																																																	1	Substitution - Missense(1)	endometrium(1)											66	57	60					10																	63851192		2203	4300	6503	SO:0001583	missense	0			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.1970T>G	10.37:g.63851192T>G	ENSP00000279873:p.Phe657Cys		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.F657C	ENST00000279873.7	37	c.1970	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	T	19.84	3.902074	0.72754	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.55930	0.51;0.49	5.87	5.87	0.94306	.	0.053570	0.85682	D	0.000000	T	0.68035	0.2957	L	0.60455	1.87	0.58432	D	0.999996	D	0.76494	0.999	D	0.64042	0.921	T	0.70981	-0.4724	10	0.87932	D	0	-19.5795	16.2674	0.82597	0.0:0.0:0.0:1.0	.	657	Q14865	ARI5B_HUMAN	C	657;414	ENSP00000279873:F657C;ENSP00000308862:F414C	ENSP00000279873:F657C	F	+	2	0	ARID5B	63521198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.144000	0.71762	2.242000	0.73789	0.533000	0.62120	TTC	ARID5B	-	NULL	ENSG00000150347		0.552	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1		0	22	0	T	XM_084482		63851192	1			no_errors	ENST00000279873	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	G	G	63851192	T	G	63851192	3	3	137	1	0	0	0	0	1	0	0	0	922	1783	62	4	2008	4	ARID5B	10	63851192	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	20250589	63851192	71683555	128	35046											
IFIT3	3437	genome.wustl.edu	37	chr10	91099326	91099326	+	Missense_Mutation	SNP	A	A	G	1	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	tgaagctagtggaaataaagAgatgattgaagcactaaagc	18	8	11	4	0	0	4	0	3	0	1	0	6	0	5	0	1	3	2	0	1	8	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr10:91099326A>G	ENST00000371818.4	+	2	1094	c.914A>G	c.(913-915)gAg>gGg	p.E305G	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.E305G|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	305					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						GGAAATAAAGAGATGATTGAA	0.418																																																	0													81	73	76					10																	91099326		2203	4300	6503	SO:0001583	missense	0			U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"Tetratricopeptide (TTC) repeat domain containing"	5411	protein-coding gene	gene with protein product		604650	"interferon-induced protein with tetratricopeptide repeats 4"	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.914A>G	10.37:g.91099326A>G	ENSP00000360883:p.Glu305Gly		Q99634|Q9BSK7	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E305G	ENST00000371818.4	37	c.914	CCDS7402.1	10	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103413	0.56291	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.14391	2.51;2.51	4.28	4.28	0.50868	Tetratricopeptide-like helical (1);	0.650217	0.13988	N	0.349033	T	0.25938	0.0632	M	0.71206	2.165	0.09310	N	1	P	0.40066	0.701	P	0.49637	0.617	T	0.08848	-1.0702	10	0.72032	D	0.01	-2.7629	8.291	0.31958	0.9102:0.0:0.0898:0.0	.	305	O14879	IFIT3_HUMAN	G	305;305;126	ENSP00000360883:E305G;ENSP00000360876:E305G	ENSP00000360876:E305G	E	+	2	0	IFIT3	91089306	0.868000	0.29978	0.069000	0.20011	0.276000	0.26787	2.400000	0.44504	2.167000	0.68274	0.529000	0.55759	GAG	IFIT3	-	NULL	ENSG00000119917		0.418	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT3	HGNC	protein_coding	OTTHUMT00000049294.1	-	0	16	0	A	NM_001549		91099326	1	tier1	-	no_errors	ENST00000371811	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.031	G	G	91099326	A	G	91099326	3	3	137	1	0	0	0	0	1	0	0	0	7551	304	11	4	929	4	IFIT3	10	91099326	Missense_Mutation	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	27248134	91099326	44435421	129	35047											
ABCC2	1244	genome.wustl.edu	37	chr10	101560160	101560160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagattgctgatctcctttgCaagtgaccgtgacacatatt	10	13	8	10	1	1	4	0	3	1	1	2	4	1	4	2	0	2	2	2	0	2	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr10:101560160C>T	ENST00000370449.4	+	9	1162	c.1049C>T	c.(1048-1050)gCa>gTa	p.A350V		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	350	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	ATCTCCTTTGCAAGTGACCGT	0.458																																																	0													366	348	354					10																	101560160		2203	4300	6503	SO:0001583	missense	0			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.1049C>T	10.37:g.101560160C>T	ENSP00000359478:p.Ala350Val		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.A350V	ENST00000370449.4	37	c.1049	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	C	5.677	0.309464	0.10733	.	.	ENSG00000023839	ENST00000370449	D	0.87887	-2.31	5.8	3.69	0.42338	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.357463	0.34133	N	0.004229	T	0.57007	0.2024	N	0.00811	-1.165	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.54879	-0.8227	10	0.02654	T	1	-0.7871	4.7332	0.12975	0.0:0.5355:0.1645:0.3001	.	350	Q92887	MRP2_HUMAN	V	350	ENSP00000359478:A350V	ENSP00000359478:A350V	A	+	2	0	ABCC2	101550150	0.995000	0.38212	0.354000	0.25760	0.925000	0.55904	3.093000	0.50217	0.502000	0.28037	0.561000	0.74099	GCA	ABCC2	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	ENSG00000023839		0.458	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	-	0	46	0	C	NM_000392		101560160	1	tier1	-	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.970	T	T	101560160	C	T	101560160	3	4	137	1	0	0	0	0	1	0	0	0	53	710	25	3	1083	3	ABCC2	10	101560160	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	10460834	101560160	33974587	130	35048											
ADAM12	8038	genome.wustl.edu	37	chr10	127708322	127708322	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggtcctggccaaggcatGagtgagccgagttgttctgg	6	10	17	8	1	1	2	0	2	1	0	2	3	2	2	3	5	1	3	3	5	1	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr10:127708322G>C	ENST00000368679.4	-	22	2920	c.2611C>G	c.(2611-2613)Cat>Gat	p.H871D		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	871					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCCAAGGCATGAGTGAGCCGA	0.572																																																	0													63	62	62					10																	127708322		2203	4300	6503	SO:0001583	missense	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2611C>G	10.37:g.127708322G>C	ENSP00000357668:p.His871Asp		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.H871D	ENST00000368679.4	37	c.2611	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	G	2.652	-0.281701	0.05642	.	.	ENSG00000148848	ENST00000368679	T	0.01438	4.89	5.16	-1.95	0.07548	.	1.186530	0.06261	N	0.693860	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.48019	-0.9071	10	0.12430	T	0.62	.	5.7746	0.18271	0.0:0.2499:0.2858:0.4643	.	871	O43184	ADA12_HUMAN	D	871	ENSP00000357668:H871D	ENSP00000357668:H871D	H	-	1	0	ADAM12	127698312	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.324000	0.07986	-0.019000	0.14055	-0.284000	0.09977	CAT	ADAM12	-	NULL	ENSG00000148848		0.572	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	-	0	25	0	G			127708322	-1	tier1	-	no_errors	ENST00000368679	ensembl	human	known	74_37	missense	37.93	18	11	SNP	0.000	C	C	127708322	G	C	127708322	3	2	137	1	0	0	0	0	1	0	0	0	236	1290	45	5	126	5	ADAM12	10	127708322	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	26148162	127708322	7826425	131	35049											
ZNF195	7748	genome.wustl.edu	37	chr11	3380466	3380466	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttatgtacaataaggtttGaggactgggtaaagtttttt	11	17	10	3	0	1	1	0	1	1	0	1	2	1	2	0	3	1	4	0	3	6	8			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:3380466G>C	ENST00000399602.4	-	6	1898	c.1772C>G	c.(1771-1773)tCa>tGa	p.S591*	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Nonsense_Mutation_p.S523*|ZNF195_ENST00000429541.2_Nonsense_Mutation_p.S523*|ZNF195_ENST00000005082.9_Nonsense_Mutation_p.S568*|ZNF195_ENST00000526601.1_Nonsense_Mutation_p.S572*|ZNF195_ENST00000354599.6_Nonsense_Mutation_p.S519*	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	591					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)		AATAAGGTTTGAGGACTGGGT	0.408																																																	0													92	95	94					11																	3380466		2055	4220	6275	SO:0001587	stop_gained	0				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.1772C>G	11.37:g.3380466G>C	ENSP00000382511:p.Ser591*		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S591*	ENST00000399602.4	37	c.1772	CCDS44522.1	11	.	.	.	.	.	.	.	.	.	.	g	19.56	3.850732	0.71719	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	.	.	.	1.27	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.7885	0.18347	0.0:0.0:1.0:0.0	.	.	.	.	X	519;591;523;523;568;572	.	ENSP00000005082:S568X	S	-	2	0	ZNF195	3337042	0.000000	0.05858	0.002000	0.10522	0.196000	0.23810	-0.006000	0.12833	0.638000	0.30545	0.305000	0.20034	TCA	ZNF195	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000005801		0.408	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF195	HGNC	protein_coding	OTTHUMT00000032321.2	-	0	52	0	G			3380466	-1	tier1	-	no_errors	ENST00000399602	ensembl	human	known	74_37	nonsense	34.00	33	17	SNP	0.003	C	C	3380466	G	C	3380466	4	2	137	1	0	0	0	0	0	1	0	0	17806	1294	45	5	121	5	ZNF195	11	3380466	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09		3380466	131626050	132	35050											
OR51Q1	390061	genome.wustl.edu	37	chr11	5443799	5443799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ctcctggctatgtccgttgaCtgctatgtggccatctgctg	4	14	11	12	1	1	1	0	1	1	0	3	1	3	1	3	2	2	4	3	2	2	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:5443799C>A	ENST00000300778.4	+	1	459	c.369C>A	c.(367-369)gaC>gaA	p.D123E	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCCGTTGACTGCTATGTGG	0.483																																																	0													233	197	209					11																	5443799		2201	4297	6498	SO:0001583	missense	0			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.369C>A	11.37:g.5443799C>A	ENSP00000300778:p.Asp123Glu		B2RNN1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D123E	ENST00000300778.4	37	c.369	CCDS31381.1	11	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235833	0.58886	.	.	ENSG00000167360	ENST00000300778	T	0.51817	0.69	5.0	0.559	0.17272	GPCR, rhodopsin-like superfamily (1);	0.191912	0.36066	N	0.002803	T	0.79028	0.4377	H	0.99391	4.545	0.37976	D	0.933441	D	0.89917	1.0	D	0.83275	0.996	T	0.83196	-0.0081	10	0.87932	D	0	.	9.9109	0.41406	0.0:0.6409:0.0:0.3591	.	123	Q8NH59	O51Q1_HUMAN	E	123	ENSP00000300778:D123E	ENSP00000300778:D123E	D	+	3	2	OR51Q1	5400375	0.999000	0.42202	1.000000	0.80357	0.715000	0.41141	1.024000	0.30077	0.271000	0.22005	0.380000	0.24917	GAC	OR51Q1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000167360		0.483	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	HGNC	protein_coding	OTTHUMT00000143373.1	-	0	32	0	C	NM_001004757		5443799	1	tier1	-	no_errors	ENST00000300778	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	A	A	5443799	C	A	5443799	3	1	137	1	0	0	0	0	1	0	0	0	11143	564	20	3	371	3	OR51Q1	11	5443799	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	2063333	5443799	129562717	133	35051											
TRIM34	53840	genome.wustl.edu	37	chr11	5655908	5655908	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacaaacagaatttgatcaGcttagaagcatcctaaataa	19	10	5	7	0	1	3	1	1	0	2	2	3	2	3	1	0	4	2	1	0	8	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:5655908G>A	ENST00000514226.1	+	4	904	c.567G>A	c.(565-567)caG>caA	p.Q189Q	TRIM6-TRIM34_ENST00000457787.2_Silent_p.Q189Q|TRIM34_ENST00000429814.2_Silent_p.Q189Q|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Silent_p.Q543Q	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	189					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)		AATTTGATCAGCTTAGAAGCA	0.423																																																	0													67	63	64					11																	5655908		2201	4297	6498	SO:0001819	synonymous_variant	0			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.567G>A	11.37:g.5655908G>A			D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q543	ENST00000514226.1	37	c.1629	CCDS31391.1	11																																																																																			TRIM6-TRIM34	-	NULL	ENSG00000258588		0.423	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	HGNC	protein_coding	OTTHUMT00000143357.2	-	0	20	0	G	NM_001003827		5655908	1	tier1	-	no_errors	ENST00000354852	ensembl	human	known	74_37	silent	36.84	12	7	SNP	0.003	A	A	5655908	G	A	5655908	2	1	137	1	0	0	0	0	0	0	0	1	16556	962	34	3		3	TRIM34	11	5655908	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	212109	5655908	129350608	134	35052											
RBMXL2	27288	genome.wustl.edu	37	chr11	7111257	7111257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggggacaccgccatcttaCggaggaggaggccgctacga	9	4	16	12	5	1	0	0	0	1	0	1	5	1	4	3	6	2	1	3	6	2	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:7111257C>T	ENST00000306904.5	+	1	1093	c.906C>T	c.(904-906)taC>taT	p.Y302Y		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	302	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCCATCTTACGGAGGAGGAG	0.662																																																	0													17	20	19					11																	7111257		2195	4290	6485	SO:0001819	synonymous_variant	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.906C>T	11.37:g.7111257C>T			Q6PEZ2|Q9NQU0	Silent	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.Y302	ENST00000306904.5	37	c.906	CCDS7777.1	11																																																																																			RBMXL2	-	NULL	ENSG00000170748		0.662	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	-	0	23	0	C	NM_014469		7111257	1	tier1	-	no_errors	ENST00000306904	ensembl	human	known	74_37	silent	17.14	29	6	SNP	1.000	T	T	7111257	C	T	7111257	2	4	137	1	0	0	0	0	0	0	0	1	13199	547	19	1		1	RBMXL2	11	7111257	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	1455349	7111257	127895259	135	35053											
ANO5	203859	genome.wustl.edu	37	chr11	22281209	22281209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agataaccacatcactcacaGgatcatgcttgaactttatt	14	12	5	10	0	3	2	3	1	0	1	3	3	3	3	1	1	3	1	1	1	3	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:22281209G>A	ENST00000324559.8	+	15	1869	c.1552G>A	c.(1552-1554)Gga>Aga	p.G518R	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	518					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						ATCACTCACAGGATCATGCTT	0.383																																																	0													176	149	158					11																	22281209		2203	4300	6503	SO:0001583	missense	0			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.1552G>A	11.37:g.22281209G>A	ENSP00000315371:p.Gly518Arg			Missense_Mutation	SNP	pfam_Anoctamin	p.G518R	ENST00000324559.8	37	c.1552	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998547	0.93227	.	.	ENSG00000171714	ENST00000324559	T	0.63255	-0.03	5.48	5.48	0.80851	.	0.100923	0.64402	D	0.000002	T	0.81706	0.4879	M	0.85777	2.775	0.48288	D	0.999621	D	0.61080	0.989	D	0.67103	0.949	D	0.84476	0.0602	10	0.87932	D	0	.	19.3345	0.94309	0.0:0.0:1.0:0.0	.	518	Q75V66	ANO5_HUMAN	R	518	ENSP00000315371:G518R	ENSP00000315371:G518R	G	+	1	0	ANO5	22237785	1.000000	0.71417	0.981000	0.43875	0.980000	0.70556	9.855000	0.99526	2.563000	0.86464	0.591000	0.81541	GGA	ANO5	-	pfam_Anoctamin	ENSG00000171714		0.383	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	-	0	84	0	G	NM_213599		22281209	1	tier1	-	no_errors	ENST00000324559	ensembl	human	known	74_37	missense	21.62	56	16	SNP	1.000	A	A	22281209	G	A	22281209	3	1	137	1	0	0	0	0	1	0	0	0	700	1001	35	3	1610	3	ANO5	11	22281209	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	15169952	22281209	112725307	136	35054											
RCN1	5954	genome.wustl.edu	37	chr11	32120056	32120056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgaagagtttgaacatatGaaggaaattgtggttttggt	12	14	12	3	0	0	4	0	3	0	1	0	5	0	5	1	3	1	2	1	3	5	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:32120056G>A	ENST00000054950.3	+	3	902	c.609G>A	c.(607-609)atG>atA	p.M203I	RCN1_ENST00000532942.1_Missense_Mutation_p.M152I|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	203	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)					TTGAACATATGAAGGAAATTG	0.458																																																	0													71	69	70					11																	32120056		2202	4299	6501	SO:0001583	missense	0			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.609G>A	11.37:g.32120056G>A	ENSP00000054950:p.Met203Ile		B7Z1M1|D3DR00	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.M203I	ENST00000054950.3	37	c.609	CCDS7876.1	11	.	.	.	.	.	.	.	.	.	.	g	27.8	4.860796	0.91433	.	.	ENSG00000049449	ENST00000530348;ENST00000532942;ENST00000054950	T;T;T	0.70986	0.31;-0.53;3.22	5.32	5.32	0.75619	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83087	0.5178	M	0.62154	1.92	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.994;0.999	D	0.84119	0.0405	10	0.62326	D	0.03	-41.2073	18.9947	0.92807	0.0:0.0:1.0:0.0	.	203;152	Q15293;B7Z1M1	RCN1_HUMAN;.	I	37;152;203	ENSP00000436482:M37I;ENSP00000436422:M152I;ENSP00000054950:M203I	ENSP00000054950:M203I	M	+	3	0	RCN1	32076632	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.869000	0.99810	2.499000	0.84300	0.491000	0.48974	ATG	RCN1	-	pfscan_EF_hand_dom	ENSG00000049449		0.458	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN1	HGNC	protein_coding	OTTHUMT00000388510.1		0	24	0	G	NM_002901		32120056	1			no_errors	ENST00000054950	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	A	A	32120056	G	A	32120056	3	1	137	1	0	0	0	0	1	0	0	0	13224	1290	45	3	619	3	RCN1	11	32120056	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	9838847	32120056	102886460	137	35055											
FBXO3	26273	genome.wustl.edu	37	chr11	33770429	33770429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tcaggaagtgcatcttttgaCatttcaatcctagagaaggg	12	12	10	7	0	3	2	2	1	1	1	4	4	4	3	1	2	1	1	1	2	4	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:33770429C>T	ENST00000265651.3	-	9	960	c.942G>A	c.(940-942)atG>atA	p.M314I	FBXO3_ENST00000534136.1_Missense_Mutation_p.M314I|FBXO3_ENST00000448981.2_Missense_Mutation_p.M314I|FBXO3_ENST00000531080.1_Start_Codon_SNP_p.M1I|FBXO3_ENST00000530401.1_Missense_Mutation_p.M309I|FBXO3_ENST00000526785.1_Missense_Mutation_p.M201I|FBXO3_ENST00000532057.1_Start_Codon_SNP_p.M1I	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	314	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)		CATCTTTTGACATTTCAATCC	0.423																																																	0													86	81	83					11																	33770429		2202	4298	6500	SO:0001583	missense	0			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.942G>A	11.37:g.33770429C>T	ENSP00000265651:p.Met314Ile		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom	p.M314I	ENST00000265651.3	37	c.942	CCDS7887.1	11	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843070	0.91197	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000530401;ENST00000531080;ENST00000532057;ENST00000534136;ENST00000448981	T;T;T;T;T	0.47869	0.83;0.84;0.86;0.86;0.87	5.46	5.46	0.80206	ApaG domain (4);	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	M	0.71581	2.175	0.80722	D	1	D;D;D	0.69078	0.993;0.993;0.997	D;D;D	0.67725	0.91;0.91;0.953	T	0.66308	-0.5956	10	0.40728	T	0.16	-18.995	19.2889	0.94090	0.0:1.0:0.0:0.0	.	309;314;314	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	I	201;314;309;1;1;314;314	ENSP00000435680:M201I;ENSP00000265651:M314I;ENSP00000433781:M309I;ENSP00000431745:M314I;ENSP00000408836:M314I	ENSP00000265651:M314I	M	-	3	0	FBXO3	33727005	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.294000	0.78760	2.586000	0.87340	0.491000	0.48974	ATG	FBXO3	-	pfam_ApaG_domain,superfamily_ApaG_domain,pfscan_ApaG_domain	ENSG00000110429		0.423	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO3	HGNC	protein_coding	OTTHUMT00000388665.1	-	0	63	0	C	NM_012175		33770429	-1	tier1	-	no_errors	ENST00000265651	ensembl	human	known	74_37	missense	27.91	62	24	SNP	1.000	T	T	33770429	C	T	33770429	3	4	137	1	0	0	0	0	1	0	0	0	5761	478	17	3	494	3	FBXO3	11	33770429	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	1650373	33770429	101236087	138	35056											
C11orf74	119710	genome.wustl.edu	37	chr11	36669655	36669655	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccagcctcctacctgtGaagtgaagccaaagcccagt	10	7	10	14	0	0	2	0	2	0	0	1	2	1	2	6	1	4	0	6	1	4	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:36669655G>T	ENST00000334307.5	+	5	563	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	C11orf74_ENST00000534635.1_Nonsense_Mutation_p.E76*|C11orf74_ENST00000446510.2_Nonsense_Mutation_p.E150*|C11orf74_ENST00000347206.4_Nonsense_Mutation_p.E76*	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	150										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				TCCTACCTGTGAAGTGAAGCC	0.478																																																	0													133	125	127					11																	36669655		2202	4298	6500	SO:0001587	stop_gained	0			AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.448G>T	11.37:g.36669655G>T	ENSP00000334848:p.Glu150*		D3DR18|Q96DD6	Nonsense_Mutation	SNP	NULL	p.E150*	ENST00000334307.5	37	c.448	CCDS7904.1	11	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565288	0.27915	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000347206;ENST00000534635;ENST00000446510;ENST00000527108	.	.	.	5.65	2.72	0.32119	.	0.766537	0.12338	N	0.477739	.	.	.	.	.	.	0.58432	A	0.99999	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.7177	6.1595	0.20356	0.1672:0.1522:0.6806:0.0	.	.	.	.	X	150;150;76;76;150;76	.	.	E	+	1	0	C11orf74	36626231	0.261000	0.24063	0.003000	0.11579	0.017000	0.09413	1.383000	0.34385	0.310000	0.22990	0.655000	0.94253	GAA	C11orf74	-	NULL	ENSG00000166352		0.478	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf74	HGNC	protein_coding	OTTHUMT00000389567.1	-	0	50	0	G	NM_138787		36669655	1	tier1	-	no_errors	ENST00000334307	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	0.019	T	T	36669655	G	T	36669655	4	4	137	1	0	0	0	0	0	1	0	0	1667	1291	45	3	462	3	C11orf74	11	36669655	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	2899226	36669655	98336861	139	35057											
OR4A15	81328	genome.wustl.edu	37	chr11	55135647	55135647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctggcttctttatcattCatagataccgtctattctac	8	19	4	10	1	6	1	2	0	4	1	6	1	6	1	1	1	2	1	1	1	5	10			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:55135647C>T	ENST00000314706.3	+	1	288	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTTTATCATTCATAGATACCG	0.433																																																	0													120	118	119					11																	55135647		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.288C>T	11.37:g.55135647C>T			Q6IFL4|Q96R65	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F96	ENST00000314706.3	37	c.288	CCDS31500.1	11																																																																																			OR4A15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181958		0.433	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	-	0	79	0	C	NM_001005275		55135647	1	tier1	-	no_errors	ENST00000314706	ensembl	human	known	74_37	silent	24.62	49	16	SNP	0.000	T	T	55135647	C	T	55135647	2	4	137	1	0	0	0	0	0	0	0	1	11079	825	29	3		3	OR4A15	11	55135647	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	18465992	55135647	79870869	140	35058											
OR5B2	390190	genome.wustl.edu	37	chr11	58190052	58190052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttttggtgtcccttagctGaatgcatcttcaagatggtg	7	16	10	8	0	2	2	1	1	1	1	3	2	3	2	1	2	2	2	1	2	3	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:58190052G>A	ENST00000302581.2	-	1	734	c.683C>T	c.(682-684)tCa>tTa	p.S228L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCCCTTAGCTGAATGCATCTT	0.403																																																	0													97	91	93					11																	58190052		2201	4295	6496	SO:0001583	missense	0			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.683C>T	11.37:g.58190052G>A	ENSP00000303076:p.Ser228Leu		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S228L	ENST00000302581.2	37	c.683	CCDS31550.1	11	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615324	0.28801	.	.	ENSG00000172365	ENST00000302581	T	0.00330	8.08	3.73	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29783	U	0.011205	T	0.00695	0.0023	M	0.93106	3.38	0.09310	N	1	P	0.40731	0.728	P	0.46850	0.529	T	0.06127	-1.0844	10	0.87932	D	0	-5.607	14.5682	0.68194	0.0:0.0:1.0:0.0	.	228	Q96R09	OR5B2_HUMAN	L	228	ENSP00000303076:S228L	ENSP00000303076:S228L	S	-	2	0	OR5B2	57946628	0.004000	0.15560	0.071000	0.20095	0.010000	0.07245	1.263000	0.33004	2.098000	0.63641	0.585000	0.79938	TCA	OR5B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172365		0.403	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B2	HGNC	protein_coding	OTTHUMT00000394887.2	-	0	50	0	G	NM_001005566		58190052	-1	tier1	-	no_errors	ENST00000302581	ensembl	human	known	74_37	missense	38.33	36	23	SNP	0.003	A	A	58190052	G	A	58190052	3	1	137	1	0	0	0	0	1	0	0	0	11189	1294	45	3	250	3	OR5B2	11	58190052	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	3054405	58190052	76816464	141	35059											
OR4D6	219983	genome.wustl.edu	37	chr11	59224784	59224784	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatatttttttcctctctgtGatggcctatgacagatacct	8	17	7	9	0	1	3	0	2	1	1	3	4	2	3	3	1	1	0	3	1	3	6			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:59224784G>A	ENST00000300127.2	+	1	374	c.351G>A	c.(349-351)gtG>gtA	p.V117V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	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)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCCTCTCTGTGATGGCCTATG	0.478																																																	0													203	196	199					11																	59224784		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.351G>A	11.37:g.59224784G>A			B2RNP7|Q6IFF5|Q96R74	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V117	ENST00000300127.2	37	c.351	CCDS31562.1	11																																																																																			OR4D6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000166884		0.478	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D6	HGNC	protein_coding	OTTHUMT00000394234.1	-	0	20	0	G	NM_001004708		59224784	1	tier1	-	no_errors	ENST00000300127	ensembl	human	known	74_37	silent	15.38	33	6	SNP	0.967	A	A	59224784	G	A	59224784	2	1	137	1	0	0	0	0	0	0	0	1	11097	1277	45	3		3	OR4D6	11	59224784	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	1034732	59224784	75781732	142	35060											
AHNAK	79026	genome.wustl.edu	37	chr11	62295933	62295933	+	Missense_Mutation	SNP	T	T	C	0	1	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	aggcatggagatcttgggggTcttgaagtgcatctcaggca	9	10	15	7	0	3	2	1	1	3	1	4	3	3	2	0	5	1	3	0	5	1	2	rs543137707		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:62295933T>C	ENST00000378024.4	-	5	6230	c.5956A>G	c.(5956-5958)Acc>Gcc	p.T1986A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1986					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)				ATCTTGGGGGTCTTGAAGTGC	0.507													T|||	1	0.000199681	8e-04	0	5008	,	,		22609	0		0	False		,,,				2504	0																0													269	276	273					11																	62295933		2202	4299	6501	SO:0001583	missense	0			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.5956A>G	11.37:g.62295933T>C	ENSP00000367263:p.Thr1986Ala		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T1986A	ENST00000378024.4	37	c.5956	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.251305	0.00022	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00856	5.61	3.78	-1.22	0.09494	.	.	.	.	.	T	0.00300	0.0009	N	0.00459	-1.475	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.42344	-0.9457	9	0.02654	T	1	.	5.0121	0.14317	0.0:0.5779:0.149:0.273	.	1986	Q09666	AHNK_HUMAN	A	75;1986	ENSP00000367263:T1986A	ENSP00000244934:T75A	T	-	1	0	AHNAK	62052509	0.873000	0.30073	0.009000	0.14445	0.052000	0.14988	0.460000	0.21924	-0.580000	0.05944	-0.802000	0.03209	ACC	AHNAK	-	NULL	ENSG00000124942		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1		0	108	0	T	NM_024060		62295933	-1			no_errors	ENST00000378024	ensembl	human	known	74_37	missense	5.79	112	7	SNP	0.009	C	C	62295933	T	C	62295933	3	2	137	1	0	0	0	0	1	0	0	0	414	1667	58	4	11836	4	AHNAK	11	62295933	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	3071149	62295933	72710583	143	35061											
ODZ4	26011	genome.wustl.edu	37	chr11	78565338	78565338	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggttaggagcctcctgccatCcagcagctccacaaagtcaa	11	7	9	14	0	1	0	1	0	0	0	4	1	4	1	5	2	4	3	5	2	3	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:78565338C>G	ENST00000278550.7	-	12	1954	c.1492G>C	c.(1492-1494)Gat>Cat	p.D498H		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	498					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)										CTCCTGCCATCCAGCAGCTCC	0.617																																																	0													9	11	10					11																	78565338		692	1591	2283	SO:0001583	missense	0			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.1492G>C	11.37:g.78565338C>G	ENSP00000278550:p.Asp498His		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.D498H	ENST00000278550.7	37	c.1492	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835491	0.91117	.	.	ENSG00000149256	ENST00000278550	T	0.36157	1.27	5.07	5.07	0.68467	.	0.119565	0.56097	D	0.000036	T	0.59918	0.2229	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58272	-0.7665	9	.	.	.	.	18.6486	0.91421	0.0:1.0:0.0:0.0	.	498	Q6N022	TEN4_HUMAN	H	498	ENSP00000278550:D498H	.	D	-	1	0	ODZ4	78242986	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.651000	0.83577	2.631000	0.89168	0.561000	0.74099	GAT	TENM4	-	NULL	ENSG00000149256		0.617	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	15	0	C			78565338	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	G	G	78565338	C	G	78565338	3	3	137	1	0	0	0	0	1	0	0	0	10876	855	30	5	6909	5	ODZ4	11	78565338	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	16269405	78565338	56441178	144	35062											
MLL	4297	genome.wustl.edu	37	chr11	118374498	118374498	+	Frame_Shift_Del	DEL	T	T	-																															cccgtgcacgttctaacatgTtttttgggcttaccccactc																										TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr11:118374498delT	ENST00000389506.5	+	27	7882	c.7882delT	c.(7882-7884)tttfs	p.F2629fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.F2591fs|KMT2A_ENST00000534358.1_Frame_Shift_Del_p.F2632fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2629					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)										TTCTAACATGTTTTTTGGGCT	0.498																																																	0													76	66	69					11																	118374498		2200	4296	6496	SO:0001589	frameshift_variant	0			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.7882delT	11.37:g.118374498delT	ENSP00000374157:p.Phe2629fs		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.F2629fs	ENST00000389506.5	37	c.7882	CCDS31686.1	11																																																																																			KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2		0	31	0	T	NM_005933		118374498	1	tier1		no_errors	ENST00000389506	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	1.000	-	-	118374498	T	-	118374498	7	5	137	1	0	1	0	1	0	0	0	0	9658	1725	60	0	7988	0	MLL	11	118374498	Frame_Shift_Del	DEL	T	TCGA-Q9-A6FU-01A-11D-A31U-09	39809160	118374498	16632018	145	35063											
CD163	9332	genome.wustl.edu	37	chr12	7637735	7637735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgaggggctggccagtctCttctcccatggagatgatgg	6	10	14	11	1	2	2	0	1	2	1	5	4	3	2	3	5	0	1	3	5	0	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:7637735C>G	ENST00000359156.4	-	11	2938	c.2736G>C	c.(2734-2736)aaG>aaC	p.K912N	CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.K912N|CD163_ENST00000541972.1_Missense_Mutation_p.K900N|CD163_ENST00000396620.3_Missense_Mutation_p.K945N	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	912	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGGCCAGTCTCTTCTCCCATG	0.517																																																	0													111	113	112					12																	7637735		2203	4300	6503	SO:0001583	missense	0			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.2736G>C	12.37:g.7637735C>G	ENSP00000352071:p.Lys912Asn		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.K912N	ENST00000359156.4	37	c.2736	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	1.438	-0.568372	0.03910	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.54	2.72	0.32119	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.528910	0.04124	N	0.316737	T	0.28863	0.0716	L	0.38175	1.15	0.20403	N	0.999901	P;B;B	0.36837	0.571;0.062;0.379	B;B;B	0.37198	0.243;0.015;0.119	T	0.18713	-1.0328	10	0.17369	T	0.5	.	5.3529	0.16045	0.0:0.6142:0.147:0.2388	.	945;912;912	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	N	912;900;945;912	ENSP00000352071:K912N;ENSP00000444071:K900N;ENSP00000379863:K945N;ENSP00000403885:K912N	ENSP00000352071:K912N	K	-	3	2	CD163	7529002	0.057000	0.20700	0.210000	0.23637	0.001000	0.01503	0.327000	0.19663	0.392000	0.25172	-0.181000	0.13052	AAG	CD163	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000177575		0.517	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	-	0	24	0	C	NM_004244, NM_203416		7637735	-1	tier1	-	no_errors	ENST00000359156	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.448	G	G	7637735	C	G	7637735	3	3	137	1	0	0	0	0	1	0	0	0	2974	912	32	5	758	5	CD163	12	7637735	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09		7637735	126214160	146	35064											
CLEC4C	170482	genome.wustl.edu	37	chr12	7882268	7882268	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgtcattccagccccattctTctgaagaacggaaatttatt	11	14	6	10	1	3	2	1	1	2	1	4	3	4	3	3	1	2	0	3	1	4	6			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:7882268T>C	ENST00000542353.1	-	7	1056	c.566A>G	c.(565-567)gAa>gGa	p.E189G	CLEC4C_ENST00000354629.5_Missense_Mutation_p.E158G|CLEC4C_ENST00000540085.1_Missense_Mutation_p.E158G|CLEC4C_ENST00000360345.3_Missense_Mutation_p.E189G	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	189	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)		GCCCCATTCTTCTGAAGAACG	0.393																																																	0													145	132	136					12																	7882268		2203	4300	6503	SO:0001583	missense	0			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.566A>G	12.37:g.7882268T>C	ENSP00000440428:p.Glu189Gly		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E189G	ENST00000542353.1	37	c.566	CCDS8583.1	12	.	.	.	.	.	.	.	.	.	.	T	1.427	-0.571287	0.03882	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	1.4	-2.19	0.07015	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.10981	0.0268	N	0.25286	0.73	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.08055	0.0;0.003	T	0.33471	-0.9867	9	0.25106	T	0.35	.	5.3682	0.16125	0.0:0.3706:0.0:0.6294	.	158;189	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	G	189;158;158;189	ENSP00000440428:E189G;ENSP00000346648:E158G;ENSP00000445338:E158G;ENSP00000353500:E189G	ENSP00000346648:E158G	E	-	2	0	CLEC4C	7773535	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.861000	0.04268	-0.763000	0.04658	-0.366000	0.07423	GAA	CLEC4C	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000198178		0.393	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4C	HGNC	protein_coding	OTTHUMT00000399750.1	-	0	47	0	T	NM_203503		7882268	-1	tier1	-	no_errors	ENST00000360345	ensembl	human	known	74_37	missense	14.75	52	9	SNP	0.000	C	C	7882268	T	C	7882268	3	2	137	1	0	0	0	0	1	0	0	0	3520	1783	62	4	79	4	CLEC4C	12	7882268	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	244533	7882268	125969627	147	35065											
TAS2R10	50839	genome.wustl.edu	37	chr12	10978643	10978644	+	Frame_Shift_Ins	INS	-	-	AT																															tcaattaggttaccggaggcINSatatatatttggagagaata																										TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:10978643_10978644insAT	ENST00000240619.2	-	1	313_314	c.225_226insAT	c.(223-228)tatgccfs	p.A76fs		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	76					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						TTACCGGAGGCATATATATTTG	0.342																																																	0																																										SO:0001589	frameshift_variant	0			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.224_225dupAT	12.37:g.10978650_10978651dupAT	ENSP00000240619:p.Ala76fs		Q3MIM9|Q6NTD9	Frame_Shift_Ins	INS	pfam_TAS2_rcpt	p.A75fs	ENST00000240619.2	37	c.226_225	CCDS8634.1	12																																																																																			TAS2R10	-	pfam_TAS2_rcpt	ENSG00000121318		0.342	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R10	HGNC	protein_coding	OTTHUMT00000399934.1		0	17	0	-			10978644	-1	tier1		no_errors	ENST00000240619	ensembl	human	known	74_37	frame_shift_ins	14.81	23	4	INS	0.000:0.000	AT	AT	10978644	-	AT	10978643	7	5	137	1	0	1	1	0	0	0	0	0	15613	710	25	0	701	0	TAS2R10	12	10978643	Frame_Shift_Ins	INS	-	TCGA-Q9-A6FU-01A-11D-A31U-09	3096375	10978643	122873252	148	35066											
EPS8	2059	genome.wustl.edu	37	chr12	15811043	15811043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaaacaaaaagtgaacCaaatctgcagcactaggatt	18	7	9	7	0	1	1	0	1	1	0	1	3	1	3	1	2	4	3	1	2	7	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:15811043C>T	ENST00000281172.5	-	12	1507	c.1071G>A	c.(1069-1071)ttG>ttA	p.L357L	EPS8_ENST00000543612.1_Silent_p.L357L|EPS8_ENST00000540613.1_Silent_p.L97L|EPS8_ENST00000542903.1_Silent_p.L97L|EPS8_ENST00000543523.1_Silent_p.L357L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	357					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)		AAAAGTGAACCAAATCTGCAG	0.343																																																	0													74	74	74					12																	15811043		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1071G>A	12.37:g.15811043C>T			A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain	p.L357	ENST00000281172.5	37	c.1071	CCDS31753.1	12																																																																																			EPS8	-	NULL	ENSG00000151491		0.343	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	-	0	49	0	C			15811043	-1	tier1	-	no_errors	ENST00000281172	ensembl	human	known	74_37	silent	28.95	27	11	SNP	1.000	T	T	15811043	C	T	15811043	2	4	137	1	0	0	0	0	0	0	0	1	5210	593	21	3		3	EPS8	12	15811043	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	4832400	15811043	118040852	149	35067											
C12orf77	196415	genome.wustl.edu	37	chr12	25149214	25149214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatattatttctggctctGctgctggcttcctttatgac	6	18	8	9	0	2	2	0	2	2	0	3	2	3	2	1	2	2	4	1	2	4	6			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:25149214G>T	ENST00000549828.1	-	2	267	c.63C>A	c.(61-63)agC>agA	p.S21R	C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	21										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TTCTGGCTCTGCTGCTGGCTT	0.428																																																	0													134	128	130					12																	25149214		1908	4136	6044	SO:0001583	missense	0			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.63C>A	12.37:g.25149214G>T	ENSP00000447146:p.Ser21Arg			Missense_Mutation	SNP	NULL	p.S21R	ENST00000549828.1	37	c.63	CCDS44846.1	12	.	.	.	.	.	.	.	.	.	.	G	9.813	1.183587	0.21870	.	.	ENSG00000226397	ENST00000549828	T	0.54866	0.55	4.85	-3.07	0.05363	.	.	.	.	.	T	0.43166	0.1235	N	0.08118	0	0.20821	N	0.999845	D	0.59767	0.986	P	0.56865	0.808	T	0.50021	-0.8876	9	0.87932	D	0	.	10.904	0.47069	0.3276:0.0:0.6724:0.0	.	21	C9JDV5	CL097_HUMAN	R	21	ENSP00000447146:S21R	ENSP00000447146:S21R	S	-	3	2	C12orf77	25040481	0.000000	0.05858	0.000000	0.03702	0.471000	0.32888	-0.519000	0.06260	-0.672000	0.05266	0.655000	0.94253	AGC	C12orf77	-	NULL	ENSG00000226397		0.428	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf77	HGNC	protein_coding	OTTHUMT00000407827.1	-	0	45	0	G	NM_001101339		25149214	-1	tier1	-	no_errors	ENST00000549828	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.000	T	T	25149214	G	T	25149214	3	4	137	1	0	0	0	0	1	0	0	0	1721	1310	46	3	386	3	C12orf77	12	25149214	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	9338171	25149214	108702681	150	35068											
DENND5B	160518	genome.wustl.edu	37	chr12	31540555	31540555	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttacacatccactcctttGatgagtgatccttctaggac	9	13	8	11	0	1	3	0	3	1	0	4	4	4	4	3	2	1	1	3	2	2	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:31540555G>T	ENST00000389082.5	-	21	4071	c.3807C>A	c.(3805-3807)atC>atA	p.I1269I	DENND5B_ENST00000306833.6_Silent_p.I1304I|DENND5B_ENST00000536562.1_Silent_p.I1304I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1269					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						CCACTCCTTTGATGAGTGATC	0.498																																																	0													91	85	87					12																	31540555		1935	4143	6078	SO:0001819	synonymous_variant	0			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.3807C>A	12.37:g.31540555G>T			B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run	p.I1304	ENST00000389082.5	37	c.3912	CCDS44857.1	12																																																																																			DENND5B	-	NULL	ENSG00000170456		0.498	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	-	0	38	0	G	NM_144973		31540555	-1	tier1	-	no_errors	ENST00000306833	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.997	T	T	31540555	G	T	31540555	2	4	137	1	0	0	0	0	0	0	0	1	4451	1280	45	3		3	DENND5B	12	31540555	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	6391341	31540555	102311340	151	35069											
ZC3H10	84872	genome.wustl.edu	37	chr12	56514530	56514530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgccgatatcgccacccaGacatgagcgaggtgtccaac	10	7	11	13	3	0	2	0	1	0	1	2	4	1	2	4	1	3	1	4	1	2	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:56514530G>T	ENST00000257940.2	+	3	460	c.184G>T	c.(184-186)Gac>Tac	p.D62Y	RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	62							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TCGCCACCCAGACATGAGCGA	0.552																																																	0													131	111	118					12																	56514530		2203	4300	6503	SO:0001583	missense	0			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"Zinc fingers, CCCH-type domain containing"	25893	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 10"	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.184G>T	12.37:g.56514530G>T	ENSP00000257940:p.Asp62Tyr			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.D62Y	ENST00000257940.2	37	c.184	CCDS8903.1	12	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699467	0.68501	.	.	ENSG00000135482	ENST00000257940;ENST00000552345;ENST00000546903	.	.	.	5.04	5.04	0.67666	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	L	0.48642	1.525	0.80722	D	1	D	0.67145	0.996	P	0.59546	0.859	T	0.70303	-0.4909	9	0.87932	D	0	-8.794	17.6965	0.88282	0.0:0.0:1.0:0.0	.	62	Q96K80	ZC3HA_HUMAN	Y	62	.	ENSP00000257940:D62Y	D	+	1	0	ZC3H10	54800797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.949000	0.93012	2.793000	0.96121	0.655000	0.94253	GAC	ZC3H10	-	smart_Znf_CCCH	ENSG00000135482		0.552	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H10	HGNC	protein_coding	OTTHUMT00000407826.1	-	0	39	0	G	NM_032786		56514530	1	tier1	-	no_errors	ENST00000257940	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	56514530	G	T	56514530	3	4	137	1	0	0	0	0	1	0	0	0	17607	942	33	3	186	3	ZC3H10	12	56514530	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	24973975	56514530	77337365	152	35070											
PRIM1	5557	genome.wustl.edu	37	chr12	57139922	57139922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccaacaatgaacacctctCcttccagaatatacccagag	15	7	4	15	0	1	3	0	1	1	2	3	3	2	3	5	0	3	0	5	0	6	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:57139922C>A	ENST00000338193.6	-	5	522	c.486G>T	c.(484-486)agG>agT	p.R162S	PRIM1_ENST00000552408.1_5'Flank	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	162					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						GAACACCTCTCCTTCCAGAAT	0.368																																																	0													107	97	100					12																	57139922		1841	4092	5933	SO:0001583	missense	0			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.486G>T	12.37:g.57139922C>A	ENSP00000350491:p.Arg162Ser			Missense_Mutation	SNP	pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc	p.R162S	ENST00000338193.6	37	c.486	CCDS44926.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979318	0.74360	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	T;T	0.47869	0.83;0.83	5.0	2.13	0.27403	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	M	0.90425	3.115	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.70684	-0.4804	10	0.54805	T	0.06	-9.9863	8.9255	0.35637	0.0:0.6784:0.0:0.3216	.	162	P49642	PRI1_HUMAN	S	163;162;165	ENSP00000350491:R162S;ENSP00000450185:R165S	ENSP00000350491:R162S	R	-	3	2	PRIM1	55426189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.454000	0.44979	0.640000	0.30582	0.456000	0.33151	AGG	PRIM1	-	pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc	ENSG00000198056		0.368	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIM1	HGNC	protein_coding	OTTHUMT00000406956.1	-	0	32	0	C	NM_000946		57139922	-1	tier1	-	no_errors	ENST00000338193	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	A	A	57139922	C	A	57139922	3	1	137	1	0	0	0	0	1	0	0	0	12532	854	30	3	812	3	PRIM1	12	57139922	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	625392	57139922	76711973	153	35071											
ZBTB39	9880	genome.wustl.edu	37	chr12	57398627	57398627	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtcgcacatggtctctgaGagccggcacttgttgagttc	7	11	12	11	3	1	2	0	2	1	1	4	3	1	2	1	2	1	4	1	2	0	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:57398627G>C	ENST00000300101.2	-	2	160	c.75C>G	c.(73-75)ctC>ctG	p.L25L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	25					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)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGTCTCTGAGAGCCGGCACT	0.562																																																	0													112	108	110					12																	57398627		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.75C>G	12.37:g.57398627G>C			A7MD38|Q9UD98	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L25	ENST00000300101.2	37	c.75	CCDS31839.1	12																																																																																			ZBTB39	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold	ENSG00000166860		0.562	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB39	HGNC	protein_coding	OTTHUMT00000411214.1	-	0	71	0	G	NM_014830		57398627	-1	tier1	-	no_errors	ENST00000300101	ensembl	human	known	74_37	silent	22.58	72	21	SNP	1.000	C	C	57398627	G	C	57398627	2	2	137	1	0	0	0	0	0	0	0	1	17588	929	33	5		5	ZBTB39	12	57398627	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	258705	57398627	76453268	154	35072											
TMBIM4	51643	genome.wustl.edu	37	chr12	66546114	66546114	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaaatcaacgcaaaaatCaaacccagagatccgagggc	18	6	7	10	2	2	1	2	0	0	1	3	3	3	1	2	1	2	1	2	1	6	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:66546114C>G	ENST00000358230.3	-	3	369	c.249G>C	c.(247-249)ttG>ttC	p.L83F	TMBIM4_ENST00000539652.1_Missense_Mutation_p.L83F|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L83F|TMBIM4_ENST00000556010.1_Missense_Mutation_p.L83F|TMBIM4_ENST00000286424.7_Missense_Mutation_p.L130F|TMBIM4_ENST00000542724.1_Missense_Mutation_p.L52F	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	83					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)		ACGCAAAAATCAAACCCAGAG	0.343																																																	0													93	90	91					12																	66546114		1832	4078	5910	SO:0001583	missense	0			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.249G>C	12.37:g.66546114C>G	ENSP00000350965:p.Leu83Phe		Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.L83F	ENST00000358230.3	37	c.249	CCDS41805.1	12	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.304044	0.01353	.	.	ENSG00000155957	ENST00000556010;ENST00000358230;ENST00000426857;ENST00000286424;ENST00000398033;ENST00000539043;ENST00000539427;ENST00000542724	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.87	-0.711	0.11230	.	0.985279	0.08303	N	0.966526	T	0.38852	0.1056	L	0.48362	1.52	0.20074	N	0.999931	B;B;B;B;B	0.22604	0.063;0.003;0.063;0.072;0.003	B;B;B;B;B	0.30716	0.119;0.017;0.076;0.066;0.042	T	0.38542	-0.9656	9	.	.	.	-0.1529	5.3006	0.15776	0.1146:0.3116:0.4457:0.1282	.	83;130;83;52;83	E7EWY5;G3XAA5;E7EQ00;G3V1M2;Q9HC24	.;.;.;.;TMBI4_HUMAN	F	83;83;83;130;83;83;129;52	ENSP00000451688:L83F;ENSP00000350965:L83F;ENSP00000286424:L130F;ENSP00000381114:L83F;ENSP00000441291:L52F	.	L	-	3	2	TMBIM4	64832381	0.075000	0.21258	0.068000	0.19968	0.154000	0.21943	-0.421000	0.07053	-0.429000	0.07329	-0.282000	0.10007	TTG	TMBIM4	-	pfam_Bax_inhibitor_1-related	ENSG00000155957		0.343	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2	-	0	24	0	C	NM_016056		66546114	-1	tier1	-	no_errors	ENST00000358230	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.102	G	G	66546114	C	G	66546114	3	3	137	1	0	0	0	0	1	0	0	0	16029	825	29	5	487	5	TMBIM4	12	66546114	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	9147487	66546114	67305781	155	35073											
DUSP6	1848	genome.wustl.edu	37	chr12	89745616	89745616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcaccggcaggttacccttCtgcaggcgccgcagcatgat	7	7	12	15	4	1	1	0	1	1	0	1	1	1	1	3	3	3	6	3	3	1	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:89745616C>T	ENST00000279488.7	-	1	1432	c.201G>A	c.(199-201)caG>caA	p.Q67Q	DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000308385.6_Silent_p.Q67Q|DUSP6_ENST00000547291.1_5'Flank	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	67	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				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						GGTTACCCTTCTGCAGGCGCC	0.672																																					Colon(132;3456 5224)												0													17	16	16					12																	89745616		2184	4273	6457	SO:0001819	synonymous_variant	0			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.201G>A	12.37:g.89745616C>T			O75109|Q53Y75|Q9BSH6	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.Q67	ENST00000279488.7	37	c.201	CCDS9033.1	12																																																																																			DUSP6	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom,prints_MKP	ENSG00000139318		0.672	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP6	HGNC	protein_coding	OTTHUMT00000406534.2	-	0	10	0	C	NM_001946, NM_022652		89745616	-1	tier1	-	no_errors	ENST00000279488	ensembl	human	known	74_37	silent	35.29	11	6	SNP	1.000	T	T	89745616	C	T	89745616	2	4	137	1	0	0	0	0	0	0	0	1	4843	912	32	3		3	DUSP6	12	89745616	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	23199502	89745616	44106279	156	35074											
NUDT4	11163	genome.wustl.edu	37	chr12	93772141	93772141	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agacgcggacctacgaccgcGagggcttcaagaagcgggcg	10	3	16	12	7	1	2	1	0	0	2	1	5	1	3	2	3	2	1	2	3	3	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:93772141G>C	ENST00000415493.2	+	1	470	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	RP11-486A14.2_ENST00000548890.1_RNA|NUDT4_ENST00000549992.1_5'Flank|NUDT4_ENST00000548662.1_5'Flank|RP11-486A14.2_ENST00000552835.1_RNA|NUDT4_ENST00000337179.5_Missense_Mutation_p.E15Q|RP11-486A14.2_ENST00000549806.1_RNA|NUDT4_ENST00000547014.1_5'Flank	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	15					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						CTACGACCGCGAGGGCTTCAA	0.736																																																	0													9	11	10					12																	93772141		2149	4224	6373	SO:0001583	missense	0			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.43G>C	12.37:g.93772141G>C	ENSP00000406612:p.Glu15Gln		B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E15Q	ENST00000415493.2	37	c.43	CCDS44952.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.294439	0.95546	.	.	ENSG00000173598	ENST00000337179;ENST00000415493	T;T	0.42513	0.97;0.97	4.68	3.79	0.43588	NUDIX hydrolase domain-like (1);	0.051036	0.85682	D	0.000000	T	0.49949	0.1587	L	0.50333	1.59	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.56751	0.805;0.772	T	0.42344	-0.9457	10	0.34782	T	0.22	-10.2023	12.4227	0.55529	0.0829:0.0:0.9171:0.0	.	15;15	Q9NZJ9-2;Q9NZJ9	.;NUDT4_HUMAN	Q	15	ENSP00000338352:E15Q;ENSP00000406612:E15Q	ENSP00000338352:E15Q	E	+	1	0	NUDT4	92296272	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.975000	0.93437	0.965000	0.38133	0.585000	0.79938	GAG	NUDT4	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000173598		0.736	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUDT4	HGNC	protein_coding	OTTHUMT00000407702.1		0	89	0	G	NM_019094		93772141	1			no_errors	ENST00000337179	ensembl	human	known	74_37	missense	5.98	110	7	SNP	1.000	C	C	93772141	G	C	93772141	3	2	137	1	0	0	0	0	1	0	0	0	10780	1059	37	5	45	5	NUDT4	12	93772141	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	4026525	93772141	40079754	157	35075											
IKBIP	121457	genome.wustl.edu	37	chr12	99020063	99020063	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caactttgggttcgtagtcgGaaagtttattagtcagatct	10	15	10	6	2	2	1	1	0	1	1	4	2	2	2	0	2	1	3	0	2	5	6			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:99020063G>T	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Missense_Mutation_p.S260Y|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_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						TTCGTAGTCGGAAAGTTTATT	0.418																																																	0													131	129	130					12																	99020063		2203	4300	6503	SO:0001627	intron_variant	0			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+8010C>A	12.37:g.99020063G>T			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.S260Y	ENST00000342502.2	37	c.779	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584696	0.65992	.	.	ENSG00000166130	ENST00000299157	T	0.47869	0.83	5.53	5.53	0.82687	.	1.060040	0.07180	N	0.853912	T	0.65112	0.2660	.	.	.	0.80722	D	1	D	0.59767	0.986	P	0.54100	0.742	T	0.59621	-0.7420	9	0.46703	T	0.11	-4.5578	19.4344	0.94785	0.0:0.0:1.0:0.0	.	260	Q70UQ0-4	.	Y	260	ENSP00000299157:S260Y	ENSP00000299157:S260Y	S	-	2	0	IKBIP	97544194	0.981000	0.34729	0.944000	0.38274	0.862000	0.49288	5.077000	0.64419	2.592000	0.87571	0.650000	0.86243	TCC	IKBIP	-	NULL	ENSG00000166130		0.418	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	-	0	30	0	G	NM_153687		99020063	-1	tier1	-	no_errors	ENST00000299157	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.666	T	T	99020063	G	T	99020063	1	4	137	0	1	0	0	0	0	0	0	0	7636	1174	41	3		3	IKBIP	12	99020063	Intron	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	5247922	99020063	34831832	158	35076											
APAF1	317	genome.wustl.edu	37	chr12	99065330	99065330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggattgtgcagtcagtgaGaattttcaggagtttttatc	10	16	11	4	0	2	1	2	1	0	1	3	4	2	3	0	2	1	2	0	2	3	7			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:99065330G>A	ENST00000551964.1	+	12	2362	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	APAF1_ENST00000550527.1_Silent_p.E531E|APAF1_ENST00000549007.1_Silent_p.E542E|APAF1_ENST00000359972.2_Silent_p.E531E|APAF1_ENST00000339433.3_Silent_p.E542E|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000357310.1_Silent_p.E542E|APAF1_ENST00000547045.1_Silent_p.E542E|APAF1_ENST00000333991.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	542					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)	CAGTCAGTGAGAATTTTCAGG	0.388																																																	0													120	123	122					12																	99065330		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1626G>A	12.37:g.99065330G>A			B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.E542	ENST00000551964.1	37	c.1626	CCDS9069.1	12																																																																																			APAF1	-	pirsf_Apoptotic_pept-activating_1	ENSG00000120868		0.388	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	-	0	88	0	G	NM_181861.1		99065330	1	tier1	-	no_errors	ENST00000551964	ensembl	human	known	74_37	silent	15.79	64	12	SNP	1.000	A	A	99065330	G	A	99065330	2	1	137	1	0	0	0	0	0	0	0	1	755	933	33	3		3	APAF1	12	99065330	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	45267	99065330	34786565	159	35077											
FBXW8	26259	genome.wustl.edu	37	chr12	117402587	117402587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcagaggacgaggaggatGagcctggaatgcagccaaat	15	5	14	7	1	1	2	1	1	0	1	1	7	1	6	2	4	3	1	2	4	3	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:117402587G>A	ENST00000309909.5	+	5	845	c.763G>A	c.(763-765)Gag>Aag	p.E255K	FBXW8_ENST00000455858.2_Missense_Mutation_p.E189K			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	255					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CGAGGAGGATGAGCCTGGAAT	0.522																																																	0													181	157	165					12																	117402587		2203	4300	6503	SO:0001583	missense	0			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.763G>A	12.37:g.117402587G>A	ENSP00000310686:p.Glu255Lys		Q9UK95	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinonprotein_ADH-like_supfam,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E255K	ENST00000309909.5	37	c.763	CCDS9182.1	12	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846186	0.71603	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.04360	3.64;3.64	5.28	5.28	0.74379	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.444418	0.24431	N	0.038582	T	0.05502	0.0145	N	0.22421	0.69	0.36337	D	0.859231	P;P	0.44429	0.835;0.804	B;B	0.42386	0.283;0.386	T	0.54262	-0.8320	10	0.15952	T	0.53	-16.4563	19.469	0.94954	0.0:0.0:1.0:0.0	.	255;189	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	K	255;189;189	ENSP00000310686:E255K;ENSP00000389144:E189K	ENSP00000310686:E255K	E	+	1	0	FBXW8	115886970	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	6.860000	0.75473	2.906000	0.99361	0.655000	0.94253	GAG	FBXW8	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000174989		0.522	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	-	0	67	0	G	NM_012174		117402587	1	tier1	-	no_errors	ENST00000309909	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	A	A	117402587	G	A	117402587	3	1	137	1	0	0	0	0	1	0	0	0	5792	1291	45	3	781	3	FBXW8	12	117402587	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	18337257	117402587	16449308	160	35078											
DDX51	317781	genome.wustl.edu	37	chr12	132626103	132626103	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgatgtggtccaccaggcgGccgggggtggctaccacgat	6	7	16	12	4	0	0	0	0	0	0	2	2	1	0	4	6	1	1	4	6	1	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:132626103G>A	ENST00000397333.3	-	7	1082	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	348	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCACCAGGCGGCCGGGGGTGG	0.642																																																	0													38	50	46					12																	132626103		2032	4187	6219	SO:0001819	synonymous_variant	0			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1044C>T	12.37:g.132626103G>A			A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G348	ENST00000397333.3	37	c.1044	CCDS41865.1	12																																																																																			DDX51	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000185163		0.642	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	HGNC	protein_coding	OTTHUMT00000398978.1	-	0	25	0	G	NM_175066		132626103	-1	tier1	-	no_errors	ENST00000397333	ensembl	human	known	74_37	silent	10.81	33	4	SNP	1.000	A	A	132626103	G	A	132626103	2	1	137	1	0	0	0	0	0	0	0	1	4378	1190	42	3		3	DDX51	12	132626103	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	15223516	132626103	1225792	161	35079											
PXMP2	5827	genome.wustl.edu	37	chr12	133272599	133272599	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctttgcaccggccttcctCatgttgttcttcctcatcat	4	17	6	14	1	5	0	3	0	2	0	7	0	7	0	4	1	1	3	4	1	0	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr12:133272599C>T	ENST00000317479.3	+	3	431	c.366C>T	c.(364-366)ctC>ctT	p.L122L	PXMP2_ENST00000428960.2_Silent_p.L29L|PXMP2_ENST00000545677.1_Intron|PXMP2_ENST00000539093.1_Intron|PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Intron	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	122						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)		p.L122L(1)		large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGGCCTTCCTCATGTTGTTCT	0.532																																																	1	Substitution - coding silent(1)	lung(1)											90	87	88					12																	133272599		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"peroxisomal membrane protein 2 (22kD)"			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.366C>T	12.37:g.133272599C>T				Silent	SNP	pfam_Mpv17_PMP22	p.L122	ENST00000317479.3	37	c.366	CCDS9279.1	12																																																																																			PXMP2	-	NULL	ENSG00000176894		0.532	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXMP2	HGNC	protein_coding	OTTHUMT00000397553.1	-	0	55	0	C	NM_018663		133272599	1	tier1	-	no_errors	ENST00000317479	ensembl	human	known	74_37	silent	23.08	40	12	SNP	0.901	T	T	133272599	C	T	133272599	2	4	137	1	0	0	0	0	0	0	0	1	12895	813	29	3		3	PXMP2	12	133272599	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	646496	133272599	579296	162	35080											
XPO4	64328	genome.wustl.edu	37	chr13	21417979	21417979	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctagttttacttgaacttGaaaattcactcaatagcgca	13	14	6	8	1	2	2	2	2	0	0	2	2	2	2	0	0	4	3	0	0	7	7			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr13:21417979G>C	ENST00000255305.6	-	5	574	c.503C>G	c.(502-504)tCa>tGa	p.S168*	XPO4_ENST00000400602.2_Nonsense_Mutation_p.S168*			Q9C0E2	XPO4_HUMAN	exportin 4	168					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)		ACTTGAACTTGAAAATTCACT	0.343																																																	0													113	100	104					13																	21417979		1841	4083	5924	SO:0001587	stop_gained	0			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.503C>G	13.37:g.21417979G>C	ENSP00000255305:p.Ser168*		Q5VUZ5|Q8N3V6|Q9H934	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S168*	ENST00000255305.6	37	c.503	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	G	37	6.152294	0.97329	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.1194	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	168;38;168	.	ENSP00000255305:S168X	S	-	2	0	XPO4	20315979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	TCA	XPO4	-	superfamily_ARM-type_fold	ENSG00000132953		0.343	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	-	0	32	0	G	NM_022459		21417979	-1	tier1	-	no_errors	ENST00000255305	ensembl	human	known	74_37	nonsense	21.05	15	4	SNP	1.000	C	C	21417979	G	C	21417979	4	2	137	1	0	0	0	0	0	1	0	0	17495	1294	45	5	3028	5	XPO4	13	21417979	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09		21417979	93751899	163	35081											
TNFRSF19	55504	genome.wustl.edu	37	chr13	24200845	24200845	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtattttcctttctcttctaGattttataggaagacgaaac	11	17	6	7	1	2	2	0	0	2	2	4	4	3	3	1	1	1	1	1	1	6	9			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr13:24200845G>C	ENST00000382258.4	+	5	563		c.e5-1		TNFRSF19_ENST00000403372.2_Splice_Site|TNFRSF19_ENST00000248484.4_Splice_Site|TNFRSF19_ENST00000382263.3_Splice_Site	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19						apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.?(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TTCTCTTCTAGATTTTATAGG	0.428																																																	1	Unknown(1)	lung(1)											96	90	92					13																	24200845		2203	4300	6503	SO:0001630	splice_region_variant	0			AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.360-1G>C	13.37:g.24200845G>C			A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Splice_Site	SNP	-	e4-1	ENST00000382258.4	37	c.360-1	CCDS9302.1	13	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843805	0.32606	.	.	ENSG00000127863	ENST00000248484;ENST00000382258;ENST00000382263	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0446	0.93015	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNFRSF19	23098845	1.000000	0.71417	0.991000	0.47740	0.051000	0.14879	8.083000	0.89515	2.608000	0.88229	0.585000	0.79938	.	TNFRSF19	-	-	ENSG00000127863		0.428	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	TNFRSF19	HGNC	protein_coding	OTTHUMT00000044156.2	-	0	25	0	G	NM_018647	Intron	24200845	1	tier1	-	no_errors	ENST00000382258	ensembl	human	known	74_37	splice_site	27.27	8	3	SNP	1.000	C	C	24200845	G	C	24200845	5	2	137	1	0	0	0	0	0	0	1	0	16339	956	33	5	373	5	TNFRSF19	13	24200845	Splice_Site	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	2782866	24200845	90969033	164	35082											
KIAA0564	23078	genome.wustl.edu	37	chr13	42277462	42277462	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tatgtctatatgatgagtttCcactggacacaagagttttt	11	16	8	6	0	1	3	0	2	1	1	2	4	2	4	1	1	0	2	1	1	4	6			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr13:42277462C>G	ENST00000379310.3	-	27	3270	c.3202G>C	c.(3202-3204)Gaa>Caa	p.E1068Q		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1068						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1068K(1)									TGATGAGTTTCCACTGGACAC	0.368																																																	1	Substitution - Missense(1)	skin(1)											114	107	109					13																	42277462		1849	4105	5954	SO:0001583	missense	0			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.3202G>C	13.37:g.42277462C>G	ENSP00000368612:p.Glu1068Gln		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.E1068Q	ENST00000379310.3	37	c.3202	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677889	0.47886	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.11277	2.79	5.55	5.55	0.83447	.	0.055071	0.64402	D	0.000001	T	0.14917	0.0360	L	0.54323	1.7	0.80722	D	1	B	0.19445	0.036	B	0.17098	0.017	T	0.04811	-1.0925	10	0.28530	T	0.3	.	19.8667	0.96806	0.0:1.0:0.0:0.0	.	1068	A3KMH1	K0564_HUMAN	Q	972;1068	ENSP00000368612:E1068Q	ENSP00000251030:E972Q	E	-	1	0	KIAA0564	41175462	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.824000	0.55723	2.773000	0.95371	0.655000	0.94253	GAA	VWA8	-	NULL	ENSG00000102763		0.368	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2		0	47	0	C	NM_015058		42277462	-1			no_errors	ENST00000379310	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	G	G	42277462	C	G	42277462	3	3	137	1	0	0	0	0	1	0	0	0	8212	864	30	5	2591	5	KIAA0564	13	42277462	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	18076617	42277462	72892416	165	35083											
KIAA0564	23078	genome.wustl.edu	37	chr13	42439942	42439942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttagcgatcactgtttttCcacaaccctacaaatggaaa	13	12	5	11	1	2	0	1	0	1	0	3	2	3	1	2	1	3	1	2	1	5	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr13:42439942C>A	ENST00000379310.3	-	12	1423	c.1355G>T	c.(1354-1356)gGa>gTa	p.G452V	VWA8_ENST00000281496.6_Missense_Mutation_p.G452V	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	452						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CACTGTTTTTCCACAACCCTA	0.373																																																	0													132	123	126					13																	42439942		2203	4300	6503	SO:0001583	missense	0			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.1355G>T	13.37:g.42439942C>A	ENSP00000368612:p.Gly452Val		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.G452V	ENST00000379310.3	37	c.1355	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595034	0.86953	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	D;D	0.92099	-2.97;-2.97	5.3	5.3	0.74995	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	D	0.000001	D	0.97676	0.9238	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98763	1.0725	10	0.87932	D	0	.	19.3149	0.94208	0.0:1.0:0.0:0.0	.	452	A3KMH1	K0564_HUMAN	V	356;452;452;452	ENSP00000368612:G452V;ENSP00000281496:G452V	ENSP00000251030:G356V	G	-	2	0	KIAA0564	41337942	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.125000	0.77193	2.631000	0.89168	0.563000	0.77884	GGA	VWA8	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000102763		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	-	0	82	0	C	NM_015058		42439942	-1	tier1	-	no_errors	ENST00000379310	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	A	A	42439942	C	A	42439942	3	1	137	1	0	0	0	0	1	0	0	0	8212	855	30	3	4502	3	KIAA0564	13	42439942	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	162480	42439942	72729936	166	35084											
AKAP11	11215	genome.wustl.edu	37	chr13	42877567	42877567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaggatctacagtgttccGagtgtctgagaccacaaaat	12	11	9	9	1	3	1	0	1	3	1	4	4	4	2	2	1	1	1	2	1	4	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr13:42877567G>T	ENST00000025301.2	+	8	4860	c.4685G>T	c.(4684-4686)cGa>cTa	p.R1562L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1562					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)		ACAGTGTTCCGAGTGTCTGAG	0.433																																																	0													96	84	88					13																	42877567		2203	4300	6503	SO:0001583	missense	0			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.4685G>T	13.37:g.42877567G>T	ENSP00000025301:p.Arg1562Leu		O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.R1562L	ENST00000025301.2	37	c.4685	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	G	1.301	-0.604764	0.03717	.	.	ENSG00000023516	ENST00000025301	T	0.45276	0.9	5.72	-8.74	0.00838	.	0.738559	0.13158	N	0.409280	T	0.10508	0.0257	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.13019	-1.0525	10	0.25751	T	0.34	.	3.3733	0.07228	0.3673:0.255:0.2946:0.083	.	1562	Q9UKA4	AKA11_HUMAN	L	1562	ENSP00000025301:R1562L	ENSP00000025301:R1562L	R	+	2	0	AKAP11	41775567	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.292000	0.19011	-1.789000	0.01264	-1.044000	0.02363	CGA	AKAP11	-	NULL	ENSG00000023516		0.433	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	-	0	27	0	G	NM_016248		42877567	1	tier1	-	no_errors	ENST00000025301	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.000	T	T	42877567	G	T	42877567	3	4	137	1	0	0	0	0	1	0	0	0	447	1058	37	2	4707	2	AKAP11	13	42877567	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	437625	42877567	72292311	167	35085											
F10	2159	genome.wustl.edu	37	chr13	113803401	113803401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcctgcctccccgagcGtgactgggccgagtccacgc	4	6	13	18	4	0	1	0	1	0	0	2	3	2	1	7	1	3	0	7	1	0	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr13:113803401G>A	ENST00000375559.3	+	8	1075	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	346	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CTCCCCGAGCGTGACTGGGCC	0.642																																																	0													86	71	76					13																	113803401		2203	4300	6503	SO:0001583	missense	0				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1037G>A	13.37:g.113803401G>A	ENSP00000364709:p.Arg346His		Q14340	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.R346H	ENST00000375559.3	37	c.1037	CCDS9530.1	13	.	.	.	.	.	.	.	.	.	.	G	8.920	0.960766	0.18583	.	.	ENSG00000126218	ENST00000375559	D	0.93076	-3.16	5.11	3.95	0.45737	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.422310	0.24145	N	0.041130	D	0.89904	0.6850	L	0.55103	1.725	0.09310	N	1	P	0.48764	0.915	B	0.41894	0.369	T	0.83310	-0.0023	10	0.56958	D	0.05	.	7.3273	0.26563	0.6148:0.3028:0.0825:0.0	.	346	P00742	FA10_HUMAN	H	346	ENSP00000364709:R346H	ENSP00000364709:R346H	R	+	2	0	F10	112851402	0.000000	0.05858	0.895000	0.35142	0.002000	0.02628	-0.021000	0.12504	0.804000	0.34136	-0.379000	0.06801	CGT	F10	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000126218		0.642	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	HGNC	protein_coding	OTTHUMT00000045841.3	-	0	17	0	G			113803401	1	tier1	-	no_errors	ENST00000375559	ensembl	human	known	74_37	missense	52.27	21	23	SNP	0.000	A	A	113803401	G	A	113803401	3	1	137	1	0	0	0	0	1	0	0	0	5352	1145	40	1	1067	1	F10	13	113803401	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	70925834	113803401	1366477	168	35086											
FAM70B	348013	genome.wustl.edu	37	chr13	114498174	114498174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggccgccttctgctgCgccatcgtggacggcgtatt	3	11	15	12	5	1	0	0	0	1	0	2	1	1	1	3	4	2	2	3	4	1	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr13:114498174C>T	ENST00000375353.3	+	4	333	c.306C>T	c.(304-306)tgC>tgT	p.C102C		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	102						integral component of membrane (GO:0016021)											CCTTCTGCTGCGCCATCGTGG	0.552																																																	0													111	90	97					13																	114498174		2203	4300	6503	SO:0001819	synonymous_variant	0			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.306C>T	13.37:g.114498174C>T				Silent	SNP	NULL	p.C102	ENST00000375353.3	37	c.306	CCDS45071.1	13																																																																																			TMEM255B	-	NULL	ENSG00000184497		0.552	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM255B	HGNC	protein_coding	OTTHUMT00000045953.4		0	28	0	C	NM_182614		114498174	1			no_errors	ENST00000375353	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.999	T	T	114498174	C	T	114498174	2	4	137	1	0	0	0	0	0	0	0	1	5628	776	27	1		1	FAM70B	13	114498174	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	694773	114498174	671704	169	35087											
NID2	22795	genome.wustl.edu	37	chr14	52505686	52505686	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtagtctctggaacttgtaGaggtcacagctgcaacaaac	13	9	10	9	0	2	1	1	0	1	1	3	2	2	2	0	2	5	4	0	2	5	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr14:52505686G>C	ENST00000216286.5	-	9	2035	c.2036C>G	c.(2035-2037)tCt>tGt	p.S679C	NID2_ENST00000541773.1_Missense_Mutation_p.S626C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	679	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				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)					GGAACTTGTAGAGGTCACAGC	0.403																																																	0													89	82	84					14																	52505686		2203	4300	6503	SO:0001583	missense	0			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.2036C>G	14.37:g.52505686G>C	ENSP00000216286:p.Ser679Cys		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.S679C	ENST00000216286.5	37	c.2036	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797509	0.50208	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.32272	1.46;1.46	6.17	5.29	0.74685	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.145674	0.64402	D	0.000004	T	0.55321	0.1913	M	0.87456	2.885	0.43095	D	0.994776	P;P;D;P	0.53885	0.496;0.635;0.963;0.937	B;B;P;P	0.57679	0.429;0.19;0.55;0.825	T	0.61277	-0.7095	10	0.36615	T	0.2	.	15.0305	0.71701	0.068:0.0:0.932:0.0	.	273;626;681;679	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	C	679;273;626;681	ENSP00000216286:S679C;ENSP00000443730:S626C	ENSP00000216286:S679C	S	-	2	0	NID2	51575436	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.082000	0.71318	1.631000	0.50456	0.655000	0.94253	TCT	NID2	-	pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F	ENSG00000087303		0.403	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	-	0	37	0	G			52505686	-1	tier1	-	no_errors	ENST00000216286	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	C	C	52505686	G	C	52505686	3	2	137	1	0	0	0	0	1	0	0	0	10454	942	33	5	2147	5	NID2	14	52505686	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09		52505686	54843854	170	35088											
SYNE2	23224	genome.wustl.edu	37	chr14	64518452	64518452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcaacttgaacatggttgGgaacaagtggaacagcagat	16	7	12	6	0	0	2	0	1	0	1	0	4	0	4	0	3	6	3	0	3	6	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr14:64518452G>T	ENST00000344113.4	+	48	8033	c.7821G>T	c.(7819-7821)tgG>tgT	p.W2607C	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.W2640C|SYNE2_ENST00000358025.3_Missense_Mutation_p.W2607C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2607					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)		AACATGGTTGGGAACAAGTGG	0.378																																																	0													101	96	98					14																	64518452		1886	4116	6002	SO:0001583	missense	0			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.7821G>T	14.37:g.64518452G>T	ENSP00000341781:p.Trp2607Cys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.W2607C	ENST00000344113.4	37	c.7821	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	2.915	-0.224466	0.06061	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.70399	0.74;0.74;-0.48	5.91	4.08	0.47627	.	0.116329	0.39909	N	0.001228	T	0.58680	0.2139	L	0.34521	1.04	0.80722	D	1	B;B	0.32382	0.252;0.368	B;B	0.32677	0.071;0.15	T	0.59048	-0.7527	10	0.87932	D	0	.	9.5038	0.39033	0.0709:0.0:0.7867:0.1424	.	2607;2607	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	C	2607;2607;2640;2640	ENSP00000350719:W2607C;ENSP00000341781:W2607C;ENSP00000452570:W2640C	ENSP00000261678:W2640C	W	+	3	0	SYNE2	63588205	1.000000	0.71417	0.479000	0.27329	0.381000	0.30169	2.910000	0.48766	0.827000	0.34685	0.655000	0.94253	TGG	SYNE2	-	NULL	ENSG00000054654		0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	35	0	G	NM_182914		64518452	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	25.00	30	10	SNP	1.000	T	T	64518452	G	T	64518452	3	4	137	1	0	0	0	0	1	0	0	0	15493	1241	43	3	8007	3	SYNE2	14	64518452	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	12012766	64518452	42831088	171	35089											
EXD2	55218	genome.wustl.edu	37	chr14	69707767	69707767	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcagtggaccacaaccatCagaagctgctccggaaattc	12	7	10	12	1	2	1	2	0	0	1	4	3	3	3	3	3	3	2	3	3	3	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr14:69707767C>G	ENST00000409018.3	+	9	1944	c.1816C>G	c.(1816-1818)Cag>Gag	p.Q606E	EXD2_ENST00000409242.1_Missense_Mutation_p.Q481E|EXD2_ENST00000409675.1_Missense_Mutation_p.Q481E|EXD2_ENST00000409949.1_Missense_Mutation_p.Q481E|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000312994.5_Missense_Mutation_p.Q606E|EXD2_ENST00000409014.1_Missense_Mutation_p.Q481E|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000449989.1_Missense_Mutation_p.Q481E	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	606							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCACAACCATCAGAAGCTGCT	0.587																																																	0													53	49	50					14																	69707767		2203	4300	6503	SO:0001583	missense	0			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1816C>G	14.37:g.69707767C>G	ENSP00000387331:p.Gln606Glu		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.Q606E	ENST00000409018.3	37	c.1816	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	C	5.213	0.224851	0.09916	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.61274	0.52;0.12;0.12;0.12;0.12;0.52;0.12	6.17	5.26	0.73747	.	0.493620	0.26507	N	0.023987	T	0.25082	0.0609	N	0.01874	-0.695	0.25967	N	0.982549	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.16660	-1.0395	10	0.02654	T	1	-9.0233	10.4199	0.44344	0.2089:0.5269:0.2642:0.0	.	606;481;481	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	E	606;481;481;481;481;606;481	ENSP00000387331:Q606E;ENSP00000386915:Q481E;ENSP00000386762:Q481E;ENSP00000386632:Q481E;ENSP00000386839:Q481E;ENSP00000313140:Q606E;ENSP00000392177:Q481E	ENSP00000313140:Q606E	Q	+	1	0	EXD2	68777520	0.996000	0.38824	1.000000	0.80357	0.919000	0.55068	1.008000	0.29872	2.941000	0.99782	0.655000	0.94253	CAG	EXD2	-	NULL	ENSG00000081177		0.587	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	-	0	17	0	C			69707767	1	tier1	-	no_errors	ENST00000312994	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.997	G	G	69707767	C	G	69707767	3	3	137	1	0	0	0	0	1	0	0	0	5314	827	29	5	1467	5	EXD2	14	69707767	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	5189315	69707767	37641773	172	35090											
EXD2	55218	genome.wustl.edu	37	chr14	69707805	69707805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcggggaagatcttcccatCcagctgtcttgatagctgct	7	13	10	11	1	2	2	0	1	2	1	5	3	4	3	2	2	3	3	2	2	2	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr14:69707805C>G	ENST00000409018.3	+	9	1982	c.1854C>G	c.(1852-1854)atC>atG	p.I618M	EXD2_ENST00000409242.1_Missense_Mutation_p.I493M|EXD2_ENST00000409675.1_Missense_Mutation_p.I493M|EXD2_ENST00000409949.1_Missense_Mutation_p.I493M|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000312994.5_Missense_Mutation_p.I618M|EXD2_ENST00000409014.1_Missense_Mutation_p.I493M|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000449989.1_Missense_Mutation_p.I493M	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	618							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ATCTTCCCATCCAGCTGTCTT	0.517																																																	0													45	40	42					14																	69707805		2203	4300	6503	SO:0001583	missense	0			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1854C>G	14.37:g.69707805C>G	ENSP00000387331:p.Ile618Met		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.I618M	ENST00000409018.3	37	c.1854	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787561	0.31593	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.67345	0.08;-0.26;-0.26;-0.26;-0.26;0.08;-0.26	6.08	4.12	0.48240	.	0.296907	0.42420	D	0.000716	T	0.61652	0.2364	L	0.51422	1.61	0.44834	D	0.997847	B;B;B	0.23806	0.091;0.055;0.055	B;B;B	0.26094	0.066;0.018;0.018	T	0.64118	-0.6482	10	0.87932	D	0	-5.3346	12.6718	0.56872	0.0:0.6966:0.2376:0.0658	.	618;493;493	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	M	618;493;493;493;493;618;493	ENSP00000387331:I618M;ENSP00000386915:I493M;ENSP00000386762:I493M;ENSP00000386632:I493M;ENSP00000386839:I493M;ENSP00000313140:I618M;ENSP00000392177:I493M	ENSP00000313140:I618M	I	+	3	3	EXD2	68777558	0.780000	0.28664	1.000000	0.80357	0.649000	0.38597	0.086000	0.14935	1.546000	0.49388	0.655000	0.94253	ATC	EXD2	-	NULL	ENSG00000081177		0.517	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1		0	16	0	C			69707805	1			no_errors	ENST00000312994	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.925	G	G	69707805	C	G	69707805	3	3	137	1	0	0	0	0	1	0	0	0	5314	845	30	5	1505	5	EXD2	14	69707805	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	38	69707805	37641735	173	35091											
EIF3J	8669	genome.wustl.edu	37	chr15	44843706	44843706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagaagaaaaggcaagaaGaaattaaaaagagggtaaat	25	4	10	2	0	0	5	0	0	0	5	0	5	0	5	0	2	1	2	0	2	12	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr15:44843706G>A	ENST00000535391.1	+	4	292	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	EIF3J_ENST00000424492.3_Intron|EIF3J_ENST00000261868.5_Missense_Mutation_p.E94K					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		aaggcaagaagaaaTTAAAAA	0.294																																																	0													38	44	42					15																	44843706		2196	4296	6492	SO:0001583	missense	0			U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.280G>A	15.37:g.44843706G>A	ENSP00000440221:p.Glu94Lys			Missense_Mutation	SNP	pfam_eIF3j	p.E94K	ENST00000535391.1	37	c.280		15	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406917	0.62399	.	.	ENSG00000104131	ENST00000261868;ENST00000535391	T;T	0.39787	1.06;1.06	5.24	5.24	0.73138	.	0.200325	0.50627	D	0.000104	T	0.51058	0.1652	L	0.38953	1.18	0.40068	D	0.975984	D;D	0.57257	0.979;0.979	D;D	0.71414	0.973;0.973	T	0.33085	-0.9882	10	0.19590	T	0.45	.	14.1991	0.65690	0.0:0.0:1.0:0.0	.	94;94	B4DUI3;O75822	.;EIF3J_HUMAN	K	94	ENSP00000261868:E94K;ENSP00000440221:E94K	ENSP00000261868:E94K	E	+	1	0	EIF3J	42630998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.235000	0.58666	2.715000	0.92844	0.655000	0.94253	GAA	EIF3J	-	pfam_eIF3j	ENSG00000104131		0.294	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	EIF3J	HGNC	protein_coding	OTTHUMT00000396804.1	-	0	51	0	G	NM_003758		44843706	1	tier1	-	no_errors	ENST00000261868	ensembl	human	known	74_37	missense	35.82	43	24	SNP	1.000	A	A	44843706	G	A	44843706	3	1	137	1	0	0	0	0	1	0	0	0	5036	943	33	3	294	3	EIF3J	15	44843706	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09		44843706	57687686	174	35092											
DUOX2	50506	genome.wustl.edu	37	chr15	45399058	45399058	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcagagagcaatgatGgtgatggcaaaaccagggct	14	5	15	7	0	0	3	0	2	0	1	0	4	0	3	1	4	3	5	1	4	3	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr15:45399058G>C	ENST00000603300.1	-	15	2005	c.1803C>G	c.(1801-1803)acC>acG	p.T601T	DUOX2_ENST00000389039.6_Silent_p.T601T	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	601					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)		GAGCAATGATGGTGATGGCAA	0.587																																																	0													58	55	56					15																	45399058		2196	4296	6492	SO:0001819	synonymous_variant	0			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.1803C>G	15.37:g.45399058G>C			A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.T601	ENST00000603300.1	37	c.1803	CCDS10117.1	15																																																																																			DUOX2	-	NULL	ENSG00000140279		0.587	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		-	0	17	0	G	NM_014080		45399058	-1	tier1	-	no_errors	ENST00000389039	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.985	C	C	45399058	G	C	45399058	2	2	137	1	0	0	0	0	0	0	0	1	4815	1335	47	5		5	DUOX2	15	45399058	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	555352	45399058	57132334	175	35093											
SEMA6D	80031	genome.wustl.edu	37	chr15	48053870	48053870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgtagttgagtaccttaGaatatgatggggaagaaatt	13	15	11	2	0	0	4	0	2	0	2	0	5	0	5	1	2	1	3	1	2	7	8			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr15:48053870G>A	ENST00000316364.5	+	7	899	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	SEMA6D_ENST00000389433.2_Missense_Mutation_p.E154K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.E154K|SEMA6D_ENST00000355997.3_Missense_Mutation_p.E154K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.E154K|SEMA6D_ENST00000558816.1_Missense_Mutation_p.E154K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.E154K|SEMA6D_ENST00000354744.4_Missense_Mutation_p.E154K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.E154K|SEMA6D_ENST00000537942.1_Missense_Mutation_p.E154K|SEMA6D_ENST00000389425.3_Missense_Mutation_p.E154K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.E154K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	154	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GAGTACCTTAGAATATGATGG	0.378																																																	0													115	120	118					15																	48053870		2198	4297	6495	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.460G>A	15.37:g.48053870G>A	ENSP00000324857:p.Glu154Lys		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.E154K	ENST00000316364.5	37	c.460	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866101	0.71949	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	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	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.044381	0.85682	D	0.000000	T	0.22003	0.0530	L	0.56199	1.76	0.80722	D	1	P;P;P;B;B	0.35844	0.524;0.496;0.524;0.397;0.396	B;B;B;P;B	0.45449	0.277;0.307;0.277;0.481;0.176	T	0.00282	-1.1850	10	0.39692	T	0.17	.	20.1634	0.98142	0.0:0.0:1.0:0.0	.	154;154;154;154;154	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	K	154	ENSP00000442040:E154K;ENSP00000446152:E154K;ENSP00000324857:E154K;ENSP00000374084:E154K;ENSP00000374083:E154K;ENSP00000346786:E154K;ENSP00000350770:E154K;ENSP00000374079:E154K;ENSP00000348276:E154K;ENSP00000374076:E154K	ENSP00000324857:E154K	E	+	1	0	SEMA6D	45841162	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.773000	0.95371	0.655000	0.94253	GAA	SEMA6D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000137872		0.378	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	-	0	43	0	G	NM_024966		48053870	1	tier1	-	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	29.17	34	14	SNP	1.000	A	A	48053870	G	A	48053870	3	1	137	1	0	0	0	0	1	0	0	0	14087	943	33	3	482	3	SEMA6D	15	48053870	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	2654812	48053870	54477522	176	35094											
CCPG1	9236	genome.wustl.edu	37	chr15	55652422	55652422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagattttccttcacagCttctttagcctgcttaattt	7	20	4	10	0	3	1	2	0	1	1	4	1	4	1	2	0	3	2	2	0	2	9			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr15:55652422C>A	ENST00000310958.6	-	8	1847	c.1549G>T	c.(1549-1551)Gct>Tct	p.A517S	CCPG1_ENST00000442196.3_Missense_Mutation_p.A517S|CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.A517S	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	517			A -> D (in dbSNP:rs1063563). {ECO:0000269|PubMed:9383053}.		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)		TCCTTCACAGCTTCTTTAGCC	0.328																																																	0													128	122	124					15																	55652422		1795	4057	5852	SO:0001583	missense	0			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.1549G>T	15.37:g.55652422C>A	ENSP00000311656:p.Ala517Ser		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.A517S	ENST00000310958.6	37	c.1549	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954501	0.73902	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.37411	1.2;1.2	5.36	5.36	0.76844	.	0.156867	0.56097	D	0.000027	T	0.57213	0.2038	L	0.59436	1.845	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.997;0.997	T	0.51340	-0.8718	10	0.33940	T	0.23	.	18.0652	0.89388	0.0:1.0:0.0:0.0	.	517;517;517;373	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	S	517	ENSP00000311656:A517S;ENSP00000403400:A517S	ENSP00000311656:A517S	A	-	1	0	DYX1C1	53439714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.395000	0.79876	2.532000	0.85374	0.591000	0.81541	GCT	CCPG1	-	NULL	ENSG00000260916		0.328	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	-	0	52	0	C	NM_004748		55652422	-1	tier1	-	no_errors	ENST00000310958	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	55652422	C	A	55652422	3	1	137	1	0	0	0	0	1	0	0	0	2945	797	28	3	728	3	CCPG1	15	55652422	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	7598552	55652422	46878970	177	35095											
RFX7	64864	genome.wustl.edu	37	chr15	56390515	56390515	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagtcttcacctgaggctGaaaggaattactttcagctg	12	11	9	9	0	3	2	2	2	1	0	3	3	3	3	1	2	2	2	1	2	4	3	rs377452165		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr15:56390515G>C	ENST00000559447.2	-	8	851	c.580C>G	c.(580-582)Cag>Gag	p.Q194E	RFX7_ENST00000422057.1_Missense_Mutation_p.Q194E|RFX7_ENST00000423270.1_Missense_Mutation_p.Q291E|RFX7_ENST00000317318.6_Missense_Mutation_p.Q291E			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	194					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						ACCTGAGGCTGAAAGGAATTA	0.403																																																	0													58	54	55					15																	56390515		1841	4084	5925	SO:0001583	missense	0					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.580C>G	15.37:g.56390515G>C	ENSP00000453281:p.Gln194Glu		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.Q291E	ENST00000559447.2	37	c.871		15	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120238	0.77323	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.54279	0.59;0.58;0.59	5.84	5.84	0.93424	.	0.080187	0.52532	D	0.000062	T	0.41743	0.1172	N	0.19112	0.55	0.58432	D	0.999999	P;P	0.41313	0.745;0.745	B;B	0.37480	0.251;0.251	T	0.39643	-0.9604	10	0.49607	T	0.09	-7.095	19.1188	0.93353	0.0:0.0:1.0:0.0	.	194;194	Q2KHR2;C9JU50	RFX7_HUMAN;.	E	194;291;291	ENSP00000387504:Q194E;ENSP00000313299:Q291E;ENSP00000397644:Q291E	ENSP00000313299:Q291E	Q	-	1	0	RFX7	54177807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.751000	0.94390	0.655000	0.94253	CAG	RFX7	-	NULL	ENSG00000181827		0.403	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	-	0	49	0	G	NM_022841		56390515	-1	tier1	-	no_errors	ENST00000423270	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	C	C	56390515	G	C	56390515	3	2	137	1	0	0	0	0	1	0	0	0	13313	1299	45	5	3519	5	RFX7	15	56390515	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	738093	56390515	46140877	178	35096											
RFX7	64864	genome.wustl.edu	37	chr15	56436654	56436654	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtagaggtagagtttctCtaggtctgtaaacttctcaa	12	13	10	6	0	3	2	1	0	3	2	5	2	3	2	0	3	1	4	0	3	7	6			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr15:56436654C>G	ENST00000423270.1	-	3	222	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000317318.6_Missense_Mutation_p.E75Q	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	0					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						TAGAGTTTCTCTAGGTCTGTA	0.328																																																	0													102	101	101					15																	56436654		1822	4068	5890	SO:0001583	missense	0					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		ENST00000423270.1:c.223G>C	15.37:g.56436654C>G	ENSP00000397644:p.Glu75Gln		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.E75Q	ENST00000423270.1	37	c.223		15	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779599	0.70107	.	.	ENSG00000181827	ENST00000317318;ENST00000423270	T;T	0.59906	0.23;0.23	5.41	5.41	0.78517	.	.	.	.	.	T	0.71796	0.3382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73157	-0.4071	6	0.52906	T	0.07	.	16.6865	0.85310	0.0:1.0:0.0:0.0	.	.	.	.	Q	75	ENSP00000313299:E75Q;ENSP00000397644:E75Q	ENSP00000313299:E75Q	E	-	1	0	RFX7	54223946	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.325000	0.65869	2.524000	0.85096	0.563000	0.77884	GAG	RFX7	-	NULL	ENSG00000181827		0.328	RFX7-203	KNOWN	basic|appris_principal	protein_coding	RFX7	HGNC	protein_coding		-	0	27	0	C	NM_022841		56436654	-1	tier1	-	no_errors	ENST00000423270	ensembl	human	known	74_37	missense	17.07	34	7	SNP	1.000	G	G	56436654	C	G	56436654	3	3	137	1	0	0	0	0	1	0	0	0	13313	922	32	5	4187	5	RFX7	15	56436654	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	46139	56436654	46094738	179	35097											
C15orf17	57184	genome.wustl.edu	37	chr15	75198649	75198649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagtctgggcggttcggcGaggcccccagcatgcctttt	6	9	14	12	3	1	1	0	0	1	1	2	2	1	1	3	4	2	2	3	4	1	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr15:75198649G>A	ENST00000357635.5	-	2	592	c.272C>T	c.(271-273)tCg>tTg	p.S91L	FAM219B_ENST00000563119.1_Missense_Mutation_p.S91L|FAM219B_ENST00000563706.1_5'Flank|FAM219B_ENST00000457294.2_Missense_Mutation_p.S91L|FAM219B_ENST00000565772.1_Missense_Mutation_p.S5L	NM_020447.3	NP_065180.1	Q5XKK7	F219B_HUMAN	family with sequence similarity 219, member B	91																	GCGGTTCGGCGAGGCCCCCAG	0.622																																																	0													29	28	28					15																	75198649		2197	4295	6492	SO:0001583	missense	0			AK000005	CCDS32295.1	15q23	2012-03-06	2012-03-06	2012-03-06	ENSG00000178761	ENSG00000178761			24695	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 17"	C15orf17		11214971	Standard	NM_020447		Approved	FLJ00005	uc002azh.4	Q5XKK7	OTTHUMG00000172715	ENST00000357635.5:c.272C>T	15.37:g.75198649G>A	ENSP00000350260:p.Ser91Leu		A8K4Q5|B4DK57|Q9NXY0	Missense_Mutation	SNP	NULL	p.S91L	ENST00000357635.5	37	c.272	CCDS32295.1	15	.	.	.	.	.	.	.	.	.	.	G	14.08	2.430130	0.43122	.	.	ENSG00000178761	ENST00000357635;ENST00000457294	.	.	.	5.35	4.38	0.52667	.	1.628090	0.03488	N	0.216183	T	0.29256	0.0728	N	0.12182	0.205	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.06405	0.002;0.001	T	0.18777	-1.0326	9	0.33141	T	0.24	-0.0472	8.2556	0.31754	0.1252:0.0:0.8748:0.0	.	91;91	D3DW69;Q5XKK7	.;CO017_HUMAN	L	91	.	ENSP00000350260:S91L	S	-	2	0	C15orf17	72985702	0.050000	0.20438	0.124000	0.21820	0.964000	0.63967	1.787000	0.38704	1.099000	0.41499	0.555000	0.69702	TCG	FAM219B	-	NULL	ENSG00000178761		0.622	FAM219B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM219B	HGNC	protein_coding	OTTHUMT00000420165.1	-	0	72	0	G	NM_020447		75198649	-1	tier1	-	no_errors	ENST00000357635	ensembl	human	known	74_37	missense	20.55	58	15	SNP	0.111	A	A	75198649	G	A	75198649	3	1	137	1	0	0	0	0	1	0	0	0	1788	1059	37	1	340	1	C15orf17	15	75198649	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	18761995	75198649	27332743	180	35098											
AKAP13	11214	genome.wustl.edu	37	chr15	86122760	86122760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatggaacatgggctcatGaacccagatgccactgtttg	12	9	11	9	0	1	2	1	1	0	1	1	4	1	3	2	2	3	2	2	2	3	1	rs111631396	byFrequency	TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr15:86122760G>C	ENST00000394518.2	+	7	1556	c.1461G>C	c.(1459-1461)atG>atC	p.M487I	AKAP13_ENST00000361243.2_Missense_Mutation_p.M487I|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	487					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						ATGGGCTCATGAACCCAGATG	0.498																																					Melanoma(94;603 1453 3280 32295 32951)												0													76	81	79					15																	86122760		2202	4299	6501	SO:0001583	missense	0			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.1461G>C	15.37:g.86122760G>C	ENSP00000378026:p.Met487Ile		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.M487I	ENST00000394518.2	37	c.1461	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	9.113	1.006990	0.19199	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.09163	3.01;3.01	5.67	2.53	0.30540	.	.	.	.	.	T	0.06142	0.0159	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.19817	0.023;0.039	B;B	0.15870	0.006;0.014	T	0.31336	-0.9947	9	0.37606	T	0.19	.	3.2849	0.06929	0.0927:0.1682:0.5506:0.1886	.	487;487	Q12802;Q12802-2	AKP13_HUMAN;.	I	487;487;486;486	ENSP00000354718:M487I;ENSP00000378026:M487I	ENSP00000354718:M487I	M	+	3	0	AKAP13	83923764	0.005000	0.15991	0.006000	0.13384	0.036000	0.12997	1.364000	0.34171	1.473000	0.48159	0.655000	0.94253	ATG	AKAP13	-	NULL	ENSG00000170776		0.498	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0	13	0	G	NM_007200		86122760	1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.002	C	C	86122760	G	C	86122760	3	2	137	1	0	0	0	0	1	0	0	0	449	1290	45	5	1483	5	AKAP13	15	86122760	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	10924111	86122760	16408632	181	35099											
FBXL16	146330	genome.wustl.edu	37	chr16	746901	746901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaaccaggcagaagccctCgaagcctctggcggcaaaac	12	3	11	15	2	1	1	0	0	1	1	2	2	1	1	4	3	4	2	4	3	5	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr16:746901C>T	ENST00000397621.1	-	2	836	c.505G>A	c.(505-507)Gag>Aag	p.E169K	FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000324361.5_Missense_Mutation_p.E169K|FBXL16_ENST00000562585.1_5'Flank	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	169										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CAGAAGCCCTCGAAGCCTCTG	0.587																																																	0													83	73	77					16																	746901		2200	4299	6499	SO:0001583	missense	0			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.505G>A	16.37:g.746901C>T	ENSP00000380746:p.Glu169Lys		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp	p.E169K	ENST00000397621.1	37	c.505	CCDS10421.1	16	.	.	.	.	.	.	.	.	.	.	c	12.80	2.045205	0.36085	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.22134	1.97;1.97	4.16	4.16	0.48862	F-box domain, Skp2-like (1);	0.209202	0.41605	D	0.000845	T	0.10423	0.0255	N	0.19112	0.55	0.43512	D	0.995778	P	0.39181	0.663	B	0.28011	0.085	T	0.10314	-1.0635	10	0.07175	T	0.84	.	15.4489	0.75257	0.0:1.0:0.0:0.0	.	169	Q8N461	FXL16_HUMAN	K	169	ENSP00000380746:E169K;ENSP00000318674:E169K	ENSP00000318674:E169K	E	-	1	0	FBXL16	686902	1.000000	0.71417	0.969000	0.41365	0.719000	0.41307	6.032000	0.70918	1.879000	0.54435	0.313000	0.20887	GAG	FBXL16	-	superfamily_F-box_dom	ENSG00000127585		0.587	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	HGNC	protein_coding	OTTHUMT00000206851.2	-	0	25	0	C	NM_153350		746901	-1	tier1	-	no_errors	ENST00000324361	ensembl	human	known	74_37	missense	46.15	14	12	SNP	1.000	T	T	746901	C	T	746901	3	4	137	1	0	0	0	0	1	0	0	0	5734	893	31	1	954	1	FBXL16	16	746901	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09		746901	89607852	182	35100											
SRRM2	23524	genome.wustl.edu	37	chr16	2814594	2814594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgaggttaaagaagatttGaatggaccgtttcttaatca	13	14	9	5	1	3	4	1	2	2	2	3	5	3	5	1	2	0	2	1	2	5	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr16:2814594G>C	ENST00000301740.8	+	11	4614	c.4065G>C	c.(4063-4065)ttG>ttC	p.L1355F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1355	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						AAGAAGATTTGAATGGACCGT	0.413																																																	0													103	110	108					16																	2814594		2198	4300	6498	SO:0001583	missense	0			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.4065G>C	16.37:g.2814594G>C	ENSP00000301740:p.Leu1355Phe		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.L1355F	ENST00000301740.8	37	c.4065	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870314	0.33069	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.39592	1.07	6.11	3.99	0.46301	.	0.251862	0.28527	N	0.015033	T	0.37489	0.1005	L	0.47716	1.5	0.28517	N	0.913278	P	0.44877	0.845	P	0.45037	0.467	T	0.38735	-0.9647	10	0.72032	D	0.01	-0.8815	6.0146	0.19594	0.2472:0.0:0.7528:0.0	.	1355	Q9UQ35	SRRM2_HUMAN	F	1355;1355;607	ENSP00000301740:L1355F	ENSP00000301740:L1355F	L	+	3	2	SRRM2	2754595	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.006000	0.29847	1.597000	0.50072	0.655000	0.94253	TTG	SRRM2	-	NULL	ENSG00000167978		0.413	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0	45	0	G			2814594	1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	47.62	22	20	SNP	0.990	C	C	2814594	G	C	2814594	3	2	137	1	0	0	0	0	1	0	0	0	15216	1281	45	5	4103	5	SRRM2	16	2814594	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	2067693	2814594	87540159	183	35101											
XYLT1	64131	genome.wustl.edu	37	chr16	17353166	17353166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttttcctttctcctgctgttCcagcttccttttcaaaagct	5	19	4	13	0	2	0	1	0	1	0	6	0	5	0	4	0	3	4	4	0	2	7			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr16:17353166C>G	ENST00000261381.6	-	3	676	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	198					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						TCCTGCTGTTCCAGCTTCCTT	0.567																																																	0													129	134	132					16																	17353166		2197	4300	6497	SO:0001583	missense	0			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.592G>C	16.37:g.17353166C>G	ENSP00000261381:p.Glu198Gln		Q9H1B6	Missense_Mutation	SNP	pfam_XylT,pfam_Glyco_trans_14	p.E198Q	ENST00000261381.6	37	c.592	CCDS10569.1	16	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027449	0.35797	.	.	ENSG00000103489	ENST00000261381	T	0.04758	3.56	5.43	5.43	0.79202	.	0.604908	0.18726	N	0.132865	T	0.06462	0.0166	L	0.44542	1.39	0.27693	N	0.946033	B	0.14012	0.009	B	0.09377	0.004	T	0.32375	-0.9909	10	0.14656	T	0.56	-5.2805	18.2463	0.89986	0.0:1.0:0.0:0.0	.	198	Q86Y38	XYLT1_HUMAN	Q	198	ENSP00000261381:E198Q	ENSP00000261381:E198Q	E	-	1	0	XYLT1	17260667	1.000000	0.71417	0.911000	0.35937	0.991000	0.79684	3.498000	0.53302	2.547000	0.85894	0.655000	0.94253	GAA	XYLT1	-	NULL	ENSG00000103489		0.567	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2		0	22	0	C	NM_022166		17353166	-1			no_errors	ENST00000261381	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.997	G	G	17353166	C	G	17353166	3	3	137	1	0	0	0	0	1	0	0	0	17512	864	30	5	2327	5	XYLT1	16	17353166	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	14538572	17353166	73001587	184	35102											
MYLK3	91807	genome.wustl.edu	37	chr16	46782047	46782047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtccatggttgttaagcagGtcttgcccaaccctggcagc	7	11	11	12	0	1	0	0	0	1	0	2	0	2	0	3	3	4	4	3	3	2	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr16:46782047G>A	ENST00000394809.4	-	1	174	c.59C>T	c.(58-60)aCc>aTc	p.T20I	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	20					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)				TGTTAAGCAGGTCTTGCCCAA	0.557																																																	0													73	75	74					16																	46782047		2203	4298	6501	SO:0001583	missense	0			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.59C>T	16.37:g.46782047G>A	ENSP00000378288:p.Thr20Ile		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T20I	ENST00000394809.4	37	c.59	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	G	8.431	0.848578	0.17034	.	.	ENSG00000140795	ENST00000394809	T	0.69806	-0.43	5.42	2.11	0.27256	.	.	.	.	.	T	0.40979	0.1139	N	0.08118	0	0.18873	N	0.999984	B	0.10296	0.003	B	0.09377	0.004	T	0.27262	-1.0079	9	0.54805	T	0.06	.	2.7525	0.05285	0.1669:0.1094:0.5082:0.2154	.	20	Q32MK0	MYLK3_HUMAN	I	20	ENSP00000378288:T20I	ENSP00000378288:T20I	T	-	2	0	MYLK3	45339548	0.053000	0.20554	0.989000	0.46669	0.197000	0.23852	0.258000	0.18387	0.668000	0.31126	0.491000	0.48974	ACC	MYLK3	-	NULL	ENSG00000140795		0.557	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	-	0	47	0	G	NM_182493		46782047	-1	tier1	-	no_errors	ENST00000394809	ensembl	human	known	74_37	missense	23.08	30	9	SNP	0.206	A	A	46782047	G	A	46782047	3	1	137	1	0	0	0	0	1	0	0	0	10096	1261	44	3	2452	3	MYLK3	16	46782047	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	29428881	46782047	43572706	185	35103											
ARL2BP	23568	genome.wustl.edu	37	chr16	57280047	57280047	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggatatttagaggacattAtcatgggtaagcttttaaga	13	15	10	3	0	1	2	1	0	0	2	1	4	1	4	0	3	1	2	0	3	5	8	rs199762075		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr16:57280047A>C	ENST00000219204.3	+	2	364	c.94A>C	c.(94-96)Atc>Ctc	p.I32L	RP11-407G23.4_ENST00000562409.1_RNA|RP11-407G23.3_ENST00000564376.1_RNA|ARL2BP_ENST00000562023.1_Missense_Mutation_p.I32L|ARL2BP_ENST00000565794.1_3'UTR	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	32					maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						AGAGGACATTATCATGGGTAA	0.343																																																	0													258	259	259					16																	57280047		2198	4300	6498	SO:0001583	missense	0			AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"binder of Arl2"	615407	"retinitis pigmentosa 66 (autosomal recessive)"	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.94A>C	16.37:g.57280047A>C	ENSP00000219204:p.Ile32Leu		B3KQJ5|Q504R0	Missense_Mutation	SNP	pfam_ARF-like_2-bdp_dom	p.I32L	ENST00000219204.3	37	c.94	CCDS10776.1	16	.	.	.	.	.	.	.	.	.	.	A	16.91	3.254052	0.59212	.	.	ENSG00000102931	ENST00000219204	T	0.33438	1.41	5.16	5.16	0.70880	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.064498	0.56097	U	0.000021	T	0.38134	0.1029	L	0.43646	1.37	0.58432	D	0.999997	B	0.27068	0.167	B	0.43728	0.429	T	0.19484	-1.0304	10	0.22109	T	0.4	-8.3026	14.9985	0.71451	1.0:0.0:0.0:0.0	.	32	Q9Y2Y0	AR2BP_HUMAN	L	32	ENSP00000219204:I32L	ENSP00000219204:I32L	I	+	1	0	ARL2BP	55837548	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.922000	0.75811	1.946000	0.56461	0.459000	0.35465	ATC	ARL2BP	-	pfam_ARF-like_2-bdp_dom	ENSG00000102931		0.343	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL2BP	HGNC	protein_coding	OTTHUMT00000257334.2	-	0	66	0	A	NM_012106		57280047	1	tier1	-	no_errors	ENST00000219204	ensembl	human	known	74_37	missense	18.06	59	13	SNP	1.000	C	C	57280047	A	C	57280047	3	2	137	1	0	0	0	0	1	0	0	0	935	449	16	4	100	4	ARL2BP	16	57280047	Missense_Mutation	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	10498000	57280047	33074706	186	35104											
CNOT1	23019	genome.wustl.edu	37	chr16	58580291	58580291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttggagcagagagttgctCatctaaattcttcaggcgat	10	13	10	8	1	4	1	2	0	2	1	4	4	4	2	0	2	2	3	0	2	2	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr16:58580291C>G	ENST00000317147.5	-	29	4272	c.3940G>C	c.(3940-3942)Gag>Cag	p.E1314Q	SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Missense_Mutation_p.E165Q|CNOT1_ENST00000569240.1_Missense_Mutation_p.E1309Q|CNOT1_ENST00000441024.2_Missense_Mutation_p.E1314Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1314	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAGAGTTGCTCATCTAAATTC	0.428																																																	0													150	134	140					16																	58580291		2198	4300	6498	SO:0001583	missense	0			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.3940G>C	16.37:g.58580291C>G	ENSP00000320949:p.Glu1314Gln		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.E1314Q	ENST00000317147.5	37	c.3940	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075275	0.36662	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.44482	0.94;0.92	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	N	0.24115	0.695	0.80722	D	1	B;D;B;B	0.61080	0.036;0.989;0.085;0.063	B;D;B;B	0.72982	0.021;0.979;0.017;0.023	T	0.39014	-0.9634	10	0.20046	T	0.44	.	19.1572	0.93516	0.0:1.0:0.0:0.0	.	165;1314;1314;1309	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	Q	1314;165;1309;1314	ENSP00000320949:E1314Q;ENSP00000413113:E1314Q	ENSP00000245138:E165Q	E	-	1	0	CNOT1	57137792	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.526000	0.85167	0.650000	0.86243	GAG	CNOT1	-	NULL	ENSG00000125107		0.428	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	-	0	26	0	C	NM_016284		58580291	-1	tier1	-	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	G	G	58580291	C	G	58580291	3	3	137	1	0	0	0	0	1	0	0	0	3624	835	29	5	3496	5	CNOT1	16	58580291	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	1300244	58580291	31774462	187	35105											
TMCO7	79613	genome.wustl.edu	37	chr16	68893888	68893888	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaagtttctgaaggatcctCagtggaagaatctgaaactc	14	10	9	8	0	3	3	1	2	2	1	5	5	4	5	1	2	1	1	1	2	5	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr16:68893888C>G	ENST00000261778.1	+	2	208	c.196C>G	c.(196-198)Cag>Gag	p.Q66E		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	66						integral component of membrane (GO:0016021)											GAAGGATCCTCAGTGGAAGAA	0.423																																																	0													72	69	70					16																	68893888		1873	4102	5975	SO:0001583	missense	0				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.196C>G	16.37:g.68893888C>G	ENSP00000261778:p.Gln66Glu		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.Q66E	ENST00000261778.1	37	c.196	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	C	1.832	-0.469605	0.04445	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.41	4.43	0.53597	.	.	.	.	.	T	0.22936	0.0554	N	0.12182	0.205	0.22317	N	0.999201	B	0.02656	0.0	B	0.04013	0.001	T	0.05131	-1.0904	8	0.02654	T	1	-0.1042	13.7514	0.62910	0.0:0.7136:0.2863:0.0	.	66	Q9C0B7	TMCO7_HUMAN	E	66	.	ENSP00000261778:Q66E	Q	+	1	0	TMCO7	67451389	0.005000	0.15991	0.999000	0.59377	0.993000	0.82548	0.425000	0.21346	2.548000	0.85928	0.561000	0.74099	CAG	TANGO6	-	NULL	ENSG00000103047		0.423	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	HGNC	protein_coding	OTTHUMT00000433471.2	-	0	55	0	C	XM_928235.2		68893888	1	tier1	-	no_errors	ENST00000261778	ensembl	human	known	74_37	missense	27.78	39	15	SNP	0.940	G	G	68893888	C	G	68893888	3	3	137	1	0	0	0	0	1	0	0	0	16048	827	29	5	202	5	TMCO7	16	68893888	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	10313597	68893888	21460865	188	35106											
RFWD3	55159	genome.wustl.edu	37	chr16	74662409	74662409	+	Frame_Shift_Del	DEL	C	C	-																															ctgtctgaaagtctatgcagCcccctggctccaagggcagc																										TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr16:74662409delC	ENST00000361070.4	-	11	2007	c.1910delG	c.(1909-1911)ggcfs	p.G637fs	RFWD3_ENST00000571750.1_Frame_Shift_Del_p.G637fs	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	637					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GTCTATGCAGCCCCCTGGCTC	0.537																																																	0													106	105	105					16																	74662409		2198	4300	6498	SO:0001589	frameshift_variant	0			AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1910delG	16.37:g.74662409delC	ENSP00000354361:p.Gly637fs		A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING	p.G637fs	ENST00000361070.4	37	c.1910	CCDS32486.1	16																																																																																			RFWD3	-	NULL	ENSG00000168411		0.537	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	HGNC	protein_coding	OTTHUMT00000436506.2		0	29	0	C	NM_018124		74662409	-1	tier1		no_errors	ENST00000361070	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	1.000	-	-	74662409	C	-	74662409	7	5	137	1	0	1	0	1	0	0	0	0	13306	739	26	0	426	0	RFWD3	16	74662409	Frame_Shift_Del	DEL	C	TCGA-Q9-A6FU-01A-11D-A31U-09	5768521	74662409	15692344	189	35107											
PLD2	5338	genome.wustl.edu	37	chr17	4721813	4721813	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtggtgttaccgagtctaCgtgcttttgcccttactccc	4	14	11	12	2	1	0	0	0	1	0	2	1	2	0	3	2	5	2	3	2	3	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr17:4721813C>T	ENST00000263088.6	+	20	2165	c.2034C>T	c.(2032-2034)taC>taT	p.Y678Y	PLD2_ENST00000572940.1_Silent_p.Y678Y	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	678	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACCGAGTCTACGTGCTTTTGC	0.607																																																	0													115	114	115					17																	4721813		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2034C>T	17.37:g.4721813C>T			I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.Y678	ENST00000263088.6	37	c.2034	CCDS11057.1	17																																																																																			PLD2	-	pirsf_PLipase_D_euk	ENSG00000129219		0.607	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD2	HGNC	protein_coding	OTTHUMT00000207561.3		0	24	0	C	NM_002663		4721813	1			no_errors	ENST00000263088	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.995	T	T	4721813	C	T	4721813	2	4	137	1	0	0	0	0	0	0	0	1	12085	547	19	1		1	PLD2	17	4721813	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09		4721813	76473397	190	35108											
CAMTA2	23125	genome.wustl.edu	37	chr17	4886089	4886089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagcttcatgtggtcctctCgggtggtcttcccatccttc	3	15	9	14	1	4	0	2	0	2	0	9	0	7	0	3	3	1	1	3	3	0	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr17:4886089C>T	ENST00000348066.3	-	5	425	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	CAMTA2_ENST00000571831.1_5'UTR|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R101Q|CAMTA2_ENST00000361571.5_Missense_Mutation_p.R124Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.R124Q|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R103Q|CAMTA2_ENST00000572543.1_Missense_Mutation_p.R101Q	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	101					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						GTGGTCCTCTCGGGTGGTCTT	0.537																																																	0													138	116	124					17																	4886089		2203	4300	6503	SO:0001583	missense	0			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.302G>A	17.37:g.4886089C>T	ENSP00000321813:p.Arg101Gln		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.R124Q	ENST00000348066.3	37	c.371	CCDS11063.1	17	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713610	0.89112	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.52754	1.83;0.89;0.88;0.88;0.65	4.99	4.02	0.46733	CG-1 (2);	0.000000	0.64402	D	0.000001	T	0.67757	0.2927	M	0.80508	2.5	0.35111	D	0.766168	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.85130	0.997;0.996;0.995;0.994	T	0.78643	-0.2124	10	0.87932	D	0	-5.3337	11.1169	0.48266	0.0:0.9106:0.0:0.0894	.	124;103;101;124	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	Q	124;103;124;101;101	ENSP00000412886:R124Q;ENSP00000370712:R103Q;ENSP00000354828:R124Q;ENSP00000350910:R101Q;ENSP00000321813:R101Q	ENSP00000321813:R101Q	R	-	2	0	CAMTA2	4826813	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	7.319000	0.79040	1.345000	0.45676	0.655000	0.94253	CGA	CAMTA2	-	pfam_CG-1_dom	ENSG00000108509		0.537	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1		0	32	0	C	NM_015099		4886089	-1			no_errors	ENST00000414043	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	4886089	C	T	4886089	3	4	137	1	0	0	0	0	1	0	0	0	2621	884	31	1	3432	1	CAMTA2	17	4886089	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	164276	4886089	76309121	191	35109											
TP53	7157	genome.wustl.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	0	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	34	0	G	NM_000546		7577121	-1	tier1	rs121913343	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	87.50	1	7	SNP	0.830	A	A	7577121	G	A	7577121	3	1	137	1	0	0	0	0	1	0	0	0	16429	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	2691032	7577121	73618089	192	35110											
TMEM11	8834	genome.wustl.edu	37	chr17	21102020	21102020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggctgtctcgtcgccaatgcGagtgggctcaatcacaatgt	8	10	12	11	3	3	0	2	0	1	0	5	1	3	0	1	2	1	2	1	2	3	0	rs376181647		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr17:21102020G>C	ENST00000317635.5	-	2	667	c.196C>G	c.(196-198)Cgc>Ggc	p.R66G	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	66					mitochondrion organization (GO:0007005)	integral component of mitochondrial inner membrane (GO:0031305)|integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						TCGCCAATGCGAGTGGGCTCA	0.607																																																	0													76	59	65					17																	21102020		2203	4300	6503	SO:0001583	missense	0			BC002819	CCDS11216.1	17p11.1	2011-08-12	2005-09-08	2005-09-08		ENSG00000178307			16823	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 35"	C17orf35		2110658, 21274005	Standard	NM_003876		Approved	PMI, PM1	uc002gyp.2	P17152		ENST00000317635.5:c.196C>G	17.37:g.21102020G>C	ENSP00000319992:p.Arg66Gly		Q53YB2	Missense_Mutation	SNP	NULL	p.R66G	ENST00000317635.5	37	c.196	CCDS11216.1	17	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063731	0.55432	.	.	ENSG00000178307	ENST00000317635	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	M	0.65975	2.015	0.80722	D	1	P	0.42161	0.772	B	0.34301	0.179	T	0.65319	-0.6197	9	0.72032	D	0.01	-34.6428	20.0263	0.97523	0.0:0.0:1.0:0.0	.	66	P17152	TMM11_HUMAN	G	66	.	ENSP00000319992:R66G	R	-	1	0	TMEM11	21042612	1.000000	0.71417	0.970000	0.41538	0.403000	0.30841	9.305000	0.96197	2.735000	0.93741	0.655000	0.94253	CGC	TMEM11	-	NULL	ENSG00000178307		0.607	TMEM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM11	HGNC	protein_coding	OTTHUMT00000444150.2	-	0	53	0	G	NM_003876		21102020	-1	tier1	-	no_errors	ENST00000317635	ensembl	human	known	74_37	missense	45.24	23	19	SNP	1.000	C	C	21102020	G	C	21102020	3	2	137	1	0	0	0	0	1	0	0	0	16073	1058	37	5	386	5	TMEM11	17	21102020	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	13524899	21102020	60093190	193	35111											
RUNDC3A	10900	genome.wustl.edu	37	chr17	42392345	42392345	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggaagacccccgtggtcatCgattacacgccctacctaaa	11	7	9	14	3	1	1	1	0	0	1	2	3	1	2	4	2	2	0	4	2	5	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr17:42392345C>G	ENST00000426726.3	+	6	871	c.597C>G	c.(595-597)atC>atG	p.I199M	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.I194M|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.I199M|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	199	Interaction with RAP2A. {ECO:0000250}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGTGGTCATCGATTACACGC	0.647																																					Pancreas(82;1061 1416 11136 20771 23901)												0													70	76	74					17																	42392345		1960	4137	6097	SO:0001583	missense	0			AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.597C>G	17.37:g.42392345C>G	ENSP00000410862:p.Ile199Met		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.I199M	ENST00000426726.3	37	c.597	CCDS45698.1	17	.	.	.	.	.	.	.	.	.	.	c	17.20	3.329454	0.60743	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	T;T	0.47869	1.29;0.83	4.19	0.828	0.18841	.	0.053835	0.64402	D	0.000001	T	0.52757	0.1754	M	0.63843	1.955	0.58432	D	0.99999	P;D;D;D	0.55385	0.882;0.971;0.971;0.971	P;P;P;P	0.60473	0.557;0.875;0.875;0.875	T	0.52465	-0.8572	10	0.87932	D	0	-20.7891	2.4457	0.04506	0.4025:0.3192:0.0:0.2783	.	199;199;194;199	Q59EK9;Q59EK9-4;Q59EK9-2;Q59EK9-3	RUN3A_HUMAN;.;.;.	M	199	ENSP00000410862:I199M;ENSP00000225441:I199M	ENSP00000225441:I199M	I	+	3	3	RUNDC3A	39747871	0.464000	0.25807	1.000000	0.80357	0.930000	0.56654	-0.323000	0.07997	0.411000	0.25702	0.407000	0.27541	ATC	RUNDC3A	-	NULL	ENSG00000108309		0.647	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC3A	HGNC	protein_coding	OTTHUMT00000403173.2	-	0	42	0	C	NM_006695		42392345	1	tier1	-	no_errors	ENST00000426726	ensembl	human	known	74_37	missense	26.47	49	18	SNP	0.998	G	G	42392345	C	G	42392345	3	3	137	1	0	0	0	0	1	0	0	0	13789	874	31	5	619	5	RUNDC3A	17	42392345	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	21290325	42392345	38802865	194	35112											
TACO1	51204	genome.wustl.edu	37	chr17	61681893	61681893	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctttttctttaaatctcaGaaggaggccccaaccctgag	10	13	7	11	0	3	2	1	1	3	1	4	3	3	3	3	2	1	0	3	2	4	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr17:61681893G>A	ENST00000258975.6	+	2	492		c.e2-1			NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I						regulation of translation (GO:0006417)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)	4						TTAAATCTCAGAAGGAGGCCC	0.453																																																	0													117	112	113					17																	61681893		2203	4300	6503	SO:0001630	splice_region_variant	0			BC005049	CCDS11640.1	17q23.3	2009-06-26	2009-06-26	2009-06-26		ENSG00000136463			24316	protein-coding gene	gene with protein product		612958	"coiled-coil domain containing 44"	CCDC44		19503089	Standard	NM_016360		Approved		uc002jbd.3	Q9BSH4		ENST00000258975.6:c.281-1G>A	17.37:g.61681893G>A			B2RD21|Q8N3N6|Q9UI60	Splice_Site	SNP	-	e2-1	ENST00000258975.6	37	c.281-1	CCDS11640.1	17	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724324	0.68959	.	.	ENSG00000136463	ENST00000258975	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0322	0.86464	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TACO1	59035625	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.882000	0.87258	2.626000	0.88956	0.603000	0.83216	.	TACO1	-	-	ENSG00000136463		0.453	TACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACO1	HGNC	protein_coding	OTTHUMT00000443862.1	-	0	22	0	G	NM_016360	Intron	61681893	1	tier1	-	no_errors	ENST00000258975	ensembl	human	known	74_37	splice_site	39.29	17	11	SNP	1.000	A	A	61681893	G	A	61681893	5	1	137	1	0	0	0	0	0	0	1	0	15551	956	33	3	286	3	TACO1	17	61681893	Splice_Site	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	19289548	61681893	19513317	195	35113											
TACO1	51204	genome.wustl.edu	37	chr17	61683700	61683700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacacttatttgctgtatGagggtcgaggccctggtggc	7	11	15	8	1	0	1	0	1	0	0	1	3	0	2	1	5	1	2	1	5	2	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr17:61683700G>A	ENST00000258975.6	+	3	627	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	139					regulation of translation (GO:0006417)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)	4						TTTGCTGTATGAGGGTCGAGG	0.448																																																	0													185	171	176					17																	61683700		2203	4300	6503	SO:0001583	missense	0			BC005049	CCDS11640.1	17q23.3	2009-06-26	2009-06-26	2009-06-26		ENSG00000136463			24316	protein-coding gene	gene with protein product		612958	"coiled-coil domain containing 44"	CCDC44		19503089	Standard	NM_016360		Approved		uc002jbd.3	Q9BSH4		ENST00000258975.6:c.415G>A	17.37:g.61683700G>A	ENSP00000258975:p.Glu139Lys		B2RD21|Q8N3N6|Q9UI60	Missense_Mutation	SNP	pfam_Transcrip_reg_TACO1-like	p.E139K	ENST00000258975.6	37	c.415	CCDS11640.1	17	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093480	0.76756	.	.	ENSG00000136463	ENST00000258975	T	0.65916	-0.18	5.82	5.82	0.92795	.	0.096084	0.64402	D	0.000001	D	0.85923	0.5810	H	0.95884	3.735	0.50632	D	0.999884	D	0.76494	0.999	D	0.73708	0.981	D	0.89846	0.4006	10	0.87932	D	0	-9.5597	17.5894	0.87991	0.0:0.0:1.0:0.0	.	139	Q9BSH4	TACO1_HUMAN	K	139	ENSP00000258975:E139K	ENSP00000258975:E139K	E	+	1	0	TACO1	59037432	1.000000	0.71417	0.985000	0.45067	0.069000	0.16628	6.567000	0.73983	2.746000	0.94184	0.650000	0.86243	GAG	TACO1	-	pfam_Transcrip_reg_TACO1-like	ENSG00000136463		0.448	TACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACO1	HGNC	protein_coding	OTTHUMT00000443862.1	-	0	69	0	G	NM_016360		61683700	1	tier1	-	no_errors	ENST00000258975	ensembl	human	known	74_37	missense	40.32	37	25	SNP	1.000	A	A	61683700	G	A	61683700	3	1	137	1	0	0	0	0	1	0	0	0	15551	1291	45	3	425	3	TACO1	17	61683700	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	1807	61683700	19511510	196	35114											
ABCA8	10351	genome.wustl.edu	37	chr17	66929322	66929322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcacttctataatagcaGcattaatggcagcttgaaga	14	12	7	8	0	2	2	1	1	1	1	2	2	2	2	0	1	4	4	0	1	6	7			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr17:66929322G>A	ENST00000269080.2	-	5	694	c.557C>T	c.(556-558)gCt>gTt	p.A186V	ABCA8_ENST00000430352.2_Missense_Mutation_p.A186V|ABCA8_ENST00000586539.1_Missense_Mutation_p.A186V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	186					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)					TATAATAGCAGCATTAATGGC	0.313																																																	0													124	128	127					17																	66929322		2203	4297	6500	SO:0001583	missense	0			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.557C>T	17.37:g.66929322G>A	ENSP00000269080:p.Ala186Val		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A186V	ENST00000269080.2	37	c.557	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959765	0.74016	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.88277	-2.36;-2.36	4.17	4.17	0.49024	.	0.000000	0.46758	D	0.000275	D	0.93854	0.8034	M	0.86651	2.83	0.39081	D	0.960916	D;D;D;D;D	0.67145	0.995;0.996;0.996;0.989;0.996	P;D;D;P;D	0.70487	0.897;0.911;0.938;0.856;0.969	D	0.93220	0.6608	10	0.29301	T	0.29	.	12.1725	0.54167	0.0:0.0:1.0:0.0	.	125;186;186;186;186	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	V	186;186;125;186	ENSP00000269080:A186V;ENSP00000402814:A186V	ENSP00000269080:A186V	A	-	2	0	ABCA8	64440917	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.939000	0.63526	2.322000	0.78497	0.655000	0.94253	GCT	ABCA8	-	NULL	ENSG00000141338		0.313	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1		0	36	0	G	NM_007168		66929322	-1			no_errors	ENST00000430352	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	A	A	66929322	G	A	66929322	3	1	137	1	0	0	0	0	1	0	0	0	38	971	34	3	4324	3	ABCA8	17	66929322	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	5245622	66929322	14265888	197	35115											
SEPT9	10801	genome.wustl.edu	37	chr17	75471827	75471827	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccagctgtagatgccGgcagctttctcctggacacg	7	8	13	13	2	1	1	0	0	1	1	2	2	1	2	3	3	3	5	3	3	1	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr17:75471827G>A	ENST00000427177.1	+	4	847				SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000590917.1_Intron|RP11-75C10.9_ENST00000591110.1_RNA|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000427180.1_Missense_Mutation_p.R76Q	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)			TGTAGATGCCGGCAGCTTTCT	0.657																																																	0													40	42	41					17																	75471827		1568	3581	5149	SO:0001627	intron_variant	0			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.722-6399G>A	17.37:g.75471827G>A			A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	p.R76Q	ENST00000427177.1	37	c.227	CCDS45790.1	17	.	.	.	.	.	.	.	.	.	.	G	9.459	1.092523	0.20471	.	.	ENSG00000184640	ENST00000427180	T	0.53206	0.63	1.29	-2.58	0.06228	.	.	.	.	.	T	0.24005	0.0581	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15464	-1.0436	8	0.23891	T	0.37	.	0.2429	0.00194	0.3259:0.2025:0.2682:0.2034	.	76	Q9UHD8-8	.	Q	76	ENSP00000415624:R76Q	ENSP00000415624:R76Q	R	+	2	0	SEPT9	72983422	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.739000	0.01840	-1.772000	0.01292	-0.717000	0.03617	CGG	SEPT9	-	NULL	ENSG00000184640		0.657	SEPT9-001	KNOWN	basic|CCDS	protein_coding	SEPT9	HGNC	protein_coding	OTTHUMT00000436304.2	-	0	27	0	G	NM_006640		75471827	1	tier1	-	no_errors	ENST00000427180	ensembl	human	known	74_37	missense	61.11	7	11	SNP	0.000	A	A	75471827	G	A	75471827	1	1	137	0	1	0	0	0	0	0	0	0	14116	1116	39	1		1	SEPT9	17	75471827	Intron	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	8542505	75471827	5723383	198	35116											
NOTUM	147111	genome.wustl.edu	37	chr17	79915689	79915689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccctgcccacctgctccCggccagcagcagcaccttgg	5	5	10	21	2	0	0	0	0	0	0	1	0	1	0	7	2	5	4	7	2	0	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr17:79915689C>T	ENST00000409678.3	-	6	1071	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	230						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACCTGCTCCCGGCCAGCAGC	0.682																																																	0													16	16	16					17																	79915689		2192	4289	6481	SO:0001583	missense	0			BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.688G>A	17.37:g.79915689C>T	ENSP00000387310:p.Gly230Arg		Q8N410|Q8NI82	Missense_Mutation	SNP	pfam_NOTUM	p.G230R	ENST00000409678.3	37	c.688	CCDS32771.2	17	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812203	0.90707	.	.	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.85805	0.5782	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90138	0.4211	9	0.87932	D	0	.	16.8011	0.85614	0.0:1.0:0.0:0.0	.	230	Q6P988	NOTUM_HUMAN	R	230	.	ENSP00000387310:G230R	G	-	1	0	NOTUM	77508979	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.152000	0.77419	1.952000	0.56665	0.491000	0.48974	GGG	NOTUM	-	pfam_NOTUM	ENSG00000185269		0.682	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTUM	HGNC	protein_coding	OTTHUMT00000335123.2	-	0	67	0	C	NM_178493		79915689	-1	tier1	-	no_errors	ENST00000409678	ensembl	human	known	74_37	missense	53.45	27	31	SNP	1.000	T	T	79915689	C	T	79915689	3	4	137	1	0	0	0	0	1	0	0	0	10591	652	23	1	826	1	NOTUM	17	79915689	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	4443862	79915689	1279521	199	35117											
SMAD4	4089	genome.wustl.edu	37	chr18	48604764	48604764	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctggattgaaattcactTacaccgggccctccagctcc	8	11	8	14	1	1	1	1	1	0	0	3	2	3	2	4	2	3	2	4	2	2	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr18:48604764T>G	ENST00000342988.3	+	12	2124	c.1586T>G	c.(1585-1587)tTa>tGa	p.L529*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.L433*|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.L529*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	529	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.L529fs*7(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAAATTCACTTACACCGGGCC	0.498																																																	39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)	pancreas(27)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											87	86	87					18																	48604764		2203	4300	6503	SO:0001587	stop_gained	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1586T>G	18.37:g.48604764T>G	ENSP00000341551:p.Leu529*		A8K405	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.L529*	ENST00000342988.3	37	c.1586	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	T	42	9.299913	0.99130	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6232	0.76824	0.0:0.0:0.0:1.0	.	.	.	.	X	529	.	ENSP00000341551:L529X	L	+	2	0	SMAD4	46858762	1.000000	0.71417	0.944000	0.38274	0.994000	0.84299	7.856000	0.86956	2.326000	0.78906	0.533000	0.62120	TTA	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.498	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	-	0	53	0	T	NM_005359		48604764	1	tier1	-	no_errors	ENST00000342988	ensembl	human	known	74_37	nonsense	38.46	24	15	SNP	1.000	G	G	48604764	T	G	48604764	4	3	137	1	0	0	0	0	0	1	0	0	14805	1764	61	4	1628	4	SMAD4	18	48604764	Nonsense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09		48604764	29472484	200	35118											
ARHGEF18	23370	genome.wustl.edu	37	chr19	7505006	7505006	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatggggaatgcgcactcCaaaagcggggacaggcacag	14	3	14	10	2	0	0	0	0	0	0	1	2	1	2	1	5	3	2	1	5	4	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr19:7505006C>T	ENST00000359920.6	+	1	433	c.180C>T	c.(178-180)tcC>tcT	p.S60S	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	60					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)				ATGCGCACTCCAAAAGCGGGG	0.642																																																	0													21	24	23					19																	7505006		692	1591	2283	SO:0001819	synonymous_variant	0			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.180C>T	19.37:g.7505006C>T			A8MV62|B5ME81|O60274|Q6DD92	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S60	ENST00000359920.6	37	c.180	CCDS45946.1	19																																																																																			ARHGEF18	-	NULL	ENSG00000104880		0.642	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1	-	0	56	0	C	NM_015318		7505006	1	tier1	-	no_errors	ENST00000359920	ensembl	human	known	74_37	silent	32.65	33	16	SNP	0.964	T	T	7505006	C	T	7505006	2	4	137	1	0	0	0	0	0	0	0	1	901	581	21	3		3	ARHGEF18	19	7505006	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09		7505006	51623977	201	35119											
ZNF844	284391	genome.wustl.edu	37	chr19	12186303	12186303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccttaataggcacattaGagctgacactgcacacaagc	13	9	7	12	0	0	2	0	1	0	1	1	2	1	2	1	1	3	3	1	1	4	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr19:12186303G>C	ENST00000439326.3	+	4	543	c.368G>C	c.(367-369)aGa>aCa	p.R123T	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AGGCACATTAGAGCTGACACT	0.443																																																	0													97	83	87					19																	12186303		692	1591	2283	SO:0001583	missense	0			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.368G>C	19.37:g.12186303G>C	ENSP00000392024:p.Arg123Thr		Q5JPI8	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R123T	ENST00000439326.3	37	c.368	CCDS45985.1	19	.	.	.	.	.	.	.	.	.	.	G	13.91	2.379391	0.42207	.	.	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505	T	0.18657	2.2	2.73	-5.45	0.02616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.19886	0.0478	M	0.82517	2.595	0.19945	N	0.999944	B	0.26081	0.141	B	0.19666	0.026	T	0.35325	-0.9793	9	0.59425	D	0.04	.	1.681	0.02832	0.1939:0.2918:0.3653:0.149	.	123	Q08AG5	ZN844_HUMAN	T	123	ENSP00000392024:R123T	ENSP00000392024:R123T	R	+	2	0	ZNF844	12047303	0.006000	0.16342	0.000000	0.03702	0.009000	0.06853	-1.189000	0.03061	-1.370000	0.02144	-0.426000	0.05927	AGA	ZNF844	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000223547		0.443	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF844	HGNC	protein_coding	OTTHUMT00000344086.2	-	0	36	0	G			12186303	1	tier1	-	no_errors	ENST00000439326	ensembl	human	known	74_37	missense	41.51	31	22	SNP	0.033	C	C	12186303	G	C	12186303	3	2	137	1	0	0	0	0	1	0	0	0	18238	942	33	5	382	5	ZNF844	19	12186303	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	4681297	12186303	46942680	202	35120											
HOOK2	29911	genome.wustl.edu	37	chr19	12876825	12876825	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggatagctgctgctggttCagcctgcgagggtggggggc	4	9	19	9	2	1	0	1	0	0	0	2	2	1	1	1	6	5	4	1	6	1	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr19:12876825C>G	ENST00000397668.3	-	16	1588	c.1515G>C	c.(1513-1515)ctG>ctC	p.L505L	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Silent_p.L505L	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	505	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)	p.L505L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GCTGCTGGTTCAGCCTGCGAG	0.672											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	breast(1)											40	47	44					19																	12876825		1983	4156	6139	SO:0001819	synonymous_variant	0			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.1515G>C	19.37:g.12876825C>G		683	O60562	Silent	SNP	pfam_Hook-related_fam,superfamily_UBA-like	p.L505	ENST00000397668.3	37	c.1515	CCDS42508.1	19																																																																																			HOOK2	-	pfam_Hook-related_fam,superfamily_UBA-like	ENSG00000095066		0.672	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	HGNC	protein_coding	OTTHUMT00000451008.1		0	35	0	C	NM_013312		12876825	-1			no_errors	ENST00000397668	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	G	G	12876825	C	G	12876825	2	3	137	1	0	0	0	0	0	0	0	1	7310	813	29	5		5	HOOK2	19	12876825	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	690522	12876825	46252158	203	35121											
PDE4C	5143	genome.wustl.edu	37	chr19	18322726	18322726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtggggttgctcagatcaGcacagtgcaccaggttctgc	7	10	14	10	0	3	1	2	0	1	1	3	1	3	1	1	4	4	5	1	4	0	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr19:18322726G>A	ENST00000355502.3	-	18	2505	c.1634C>T	c.(1633-1635)gCt>gTt	p.A545V	PDE4C_ENST00000594465.3_Missense_Mutation_p.A545V|PDE4C_ENST00000597297.1_Missense_Mutation_p.A315V|PDE4C_ENST00000598111.2_Missense_Mutation_p.A260V|PDE4C_ENST00000539010.1_Missense_Mutation_p.A314V|AC068499.10_ENST00000594805.3_RNA|AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.A545V|PDE4C_ENST00000262805.12_Missense_Mutation_p.A513V|PDE4C_ENST00000447275.3_Missense_Mutation_p.A439V			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	545					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GCTCAGATCAGCACAGTGCAC	0.642																																																	0													80	62	68					19																	18322726		2203	4300	6503	SO:0001583	missense	0				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1634C>T	19.37:g.18322726G>A	ENSP00000347689:p.Ala545Val		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.A545V	ENST00000355502.3	37	c.1634	CCDS12373.1	19	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616631	0.66672	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	4.64	4.64	0.57946	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	0.92941	0.7754	H	0.96916	3.905	0.46279	D	0.998965	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.997;0.999	D	0.95217	0.8330	10	0.87932	D	0	.	15.0054	0.71507	0.0:0.0:1.0:0.0	.	545;513;351;260	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	V	624;545;533;513;439;351;259;314;654	ENSP00000347689:A545V;ENSP00000262805:A513V;ENSP00000402091:A439V;ENSP00000439470:A314V	ENSP00000262805:A513V	A	-	2	0	PDE4C	18183726	1.000000	0.71417	0.340000	0.25575	0.083000	0.17756	9.377000	0.97184	2.137000	0.66172	0.561000	0.74099	GCT	PDE4C	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	ENSG00000105650		0.642	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1		0	18	0	G			18322726	-1			no_errors	ENST00000355502	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.995	A	A	18322726	G	A	18322726	3	1	137	1	0	0	0	0	1	0	0	0	11680	971	34	3	512	3	PDE4C	19	18322726	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	5445901	18322726	40806257	204	35122											
SLC1A5	6510	genome.wustl.edu	37	chr19	47278877	47278877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactggcagcggatccagggGcagctcactcttcacttgta	8	9	12	12	1	3	0	2	0	1	0	4	2	4	1	1	4	2	4	1	4	1	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr19:47278877G>A	ENST00000542575.2	-	8	2144	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000594991.1_Missense_Mutation_p.P330S|SLC1A5_ENST00000412532.2_Missense_Mutation_p.P278S|SLC1A5_ENST00000434726.2_Missense_Mutation_p.P304S	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)	GGATCCAGGGGCAGCTCACTC	0.592																																																	0													154	147	149					19																	47278877		2203	4300	6503	SO:0001583	missense	0			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.1516C>T	19.37:g.47278877G>A	ENSP00000444408:p.Pro506Ser		A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.P506S	ENST00000542575.2	37	c.1516	CCDS12692.1	19	.	.	.	.	.	.	.	.	.	.	-	10.20	1.284895	0.23392	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.62498	0.84;0.02;0.03	4.88	0.174	0.15040	.	0.616112	0.14575	N	0.311214	T	0.35770	0.0943	N	0.10874	0.06	0.09310	N	1	B;B;B	0.16166	0.016;0.003;0.003	B;B;B	0.14578	0.011;0.003;0.003	T	0.20706	-1.0267	10	0.11485	T	0.65	-16.5459	9.3812	0.38316	0.374:0.0:0.626:0.0	.	304;506;506	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	S	506;304;278;513	ENSP00000444408:P506S;ENSP00000406532:P304S;ENSP00000397924:P278S	ENSP00000303623:P513S	P	-	1	0	SLC1A5	51970717	0.000000	0.05858	0.003000	0.11579	0.173000	0.22820	0.554000	0.23407	0.257000	0.21650	0.550000	0.68814	CCC	SLC1A5	-	NULL	ENSG00000105281		0.592	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A5	HGNC	protein_coding	OTTHUMT00000466630.1	-	0	32	0	G			47278877	-1	tier1	-	no_errors	ENST00000542575	ensembl	human	known	74_37	missense	35.56	29	16	SNP	0.010	A	A	47278877	G	A	47278877	3	1	137	1	0	0	0	0	1	0	0	0	14480	1203	42	3	113	3	SLC1A5	19	47278877	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	28956151	47278877	11850106	205	35123											
CYTH2	9266	genome.wustl.edu	37	chr19	48976576	48976576	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaactgaacctggcagtGctccatgcttttgtggatct	9	12	11	9	0	1	2	0	1	1	1	2	4	2	3	2	2	4	3	2	2	3	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr19:48976576G>T	ENST00000452733.2	+	5	851	c.375G>T	c.(373-375)gtG>gtT	p.V125V	CYTH2_ENST00000427476.1_Silent_p.V125V			Q99418	CYH2_HUMAN	cytohesin 2	125	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACCTGGCAGTGCTCCATGCTT	0.547																																																	0													138	105	116					19																	48976576		2203	4300	6503	SO:0001819	synonymous_variant	0			X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"Pleckstrin homology (PH) domain containing"	9502	protein-coding gene	gene with protein product		602488	"pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)", "pleckstrin homology, Sec7 and coiled-coil domains 2"	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.375G>T	19.37:g.48976576G>T			A8K8P0|Q8IXY9|Q92958	Silent	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.V125	ENST00000452733.2	37	c.375	CCDS12722.1	19																																																																																			CYTH2	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000105443		0.547	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYTH2	HGNC	protein_coding	OTTHUMT00000317060.1		0	38	0	G	NM_004228		48976576	1			no_errors	ENST00000427476	ensembl	human	known	74_37	silent	13.79	25	4	SNP	1.000	T	T	48976576	G	T	48976576	2	4	137	1	0	0	0	0	0	0	0	1	4213	1306	46	3		3	CYTH2	19	48976576	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	1697699	48976576	10152407	206	35124											
SCAF1	58506	genome.wustl.edu	37	chr19	50157957	50157957	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtctggggatgaccccagctCctgtgcccacctctttgggt	4	11	12	14	0	2	1	0	1	2	0	3	2	3	2	5	3	2	1	5	3	0	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr19:50157957C>G	ENST00000360565.3	+	9	3572	c.3448C>G	c.(3448-3450)Cct>Gct	p.P1150A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1150					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)		GACCCCAGCTCCTGTGCCCAC	0.657																																																	0													108	91	97					19																	50157957		2203	4300	6503	SO:0001583	missense	0			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.3448C>G	19.37:g.50157957C>G	ENSP00000353769:p.Pro1150Ala		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	NULL	p.P1150A	ENST00000360565.3	37	c.3448	CCDS33074.1	19	.	.	.	.	.	.	.	.	.	.	c	11.83	1.755613	0.31046	.	.	ENSG00000126461	ENST00000360565	T	0.33865	1.39	5.22	5.22	0.72569	.	0.092923	0.41001	D	0.000965	T	0.22244	0.0536	N	0.24115	0.695	0.43593	D	0.995947	P	0.46859	0.885	B	0.39805	0.31	T	0.01977	-1.1236	10	0.59425	D	0.04	-14.143	6.7086	0.23264	0.1775:0.7352:0.0:0.0873	.	1150	Q9H7N4	SFR19_HUMAN	A	1150	ENSP00000353769:P1150A	ENSP00000353769:P1150A	P	+	1	0	SCAF1	54849769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.674000	0.46867	2.716000	0.92895	0.651000	0.88453	CCT	SCAF1	-	NULL	ENSG00000126461		0.657	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1		0	41	0	C	NM_021228		50157957	1			no_errors	ENST00000360565	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.998	G	G	50157957	C	G	50157957	3	3	137	1	0	0	0	0	1	0	0	0	13913	855	30	5	3478	5	SCAF1	19	50157957	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	1181381	50157957	8971026	207	35125											
LILRA4	23547	genome.wustl.edu	37	chr19	54848413	54848413	+	Splice_Site	SNP	T	T	G	0	1	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	gagggtctgtcagagatctgTcctggagaaaagaaggacgg	12	7	16	6	1	3	3	1	0	2	3	4	7	4	4	1	4	0	0	1	4	3	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr19:54848413T>G	ENST00000291759.4	-	6	1010	c.954A>C	c.(952-954)ggA>ggC	p.G318G	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	318					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)		CAGAGATCTGTCCTGGAGAAA	0.607																																																	0													43	45	45					19																	54848413		2203	4300	6503	SO:0001630	splice_region_variant	0			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.953-1A>C	19.37:g.54848413T>G			Q32MC4	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.G318	ENST00000291759.4	37	c.954	CCDS12890.1	19																																																																																			LILRA4	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000239961		0.607	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	HGNC	protein_coding	OTTHUMT00000140229.2	-	0	49	0	T	NM_012276	Silent	54848413	-1	tier1	-	no_errors	ENST00000291759	ensembl	human	known	74_37	silent	28.99	49	20	SNP	0.008	G	G	54848413	T	G	54848413	5	3	137	1	0	0	0	0	0	0	1	0	8816	1681	58	4	557	4	LILRA4	19	54848413	Splice_Site	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	4690456	54848413	4280570	208	35126											
ZNF132	7691	genome.wustl.edu	37	chr19	58946575	58946575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctctactccatgccaaGaacctgaaagtagagaaatg	15	7	7	12	0	1	3	0	1	1	2	2	4	2	3	4	0	3	1	4	0	6	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr19:58946575G>T	ENST00000254166.3	-	3	636	c.236C>A	c.(235-237)tCt>tAt	p.S79Y		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TCCATGCCAAGAACCTGAAAG	0.453																																																	0													58	61	60					19																	58946575		2203	4299	6502	SO:0001583	missense	0			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.236C>A	19.37:g.58946575G>T	ENSP00000254166:p.Ser79Tyr		Q32MI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S79Y	ENST00000254166.3	37	c.236	CCDS12980.1	19	.	.	.	.	.	.	.	.	.	.	C	0	-2.821074	0.00072	.	.	ENSG00000131849	ENST00000254166	T	0.00737	5.76	3.12	1.96	0.26148	Krueppel-associated box (3);	.	.	.	.	T	0.00328	0.0010	N	0.01464	-0.85	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44283	-0.9338	9	0.02654	T	1	.	2.7579	0.05298	0.0:0.4661:0.2761:0.2579	.	79	P52740	ZN132_HUMAN	Y	79	ENSP00000254166:S79Y	ENSP00000254166:S79Y	S	-	2	0	ZNF132	63638387	0.062000	0.20869	0.118000	0.21660	0.047000	0.14425	-0.147000	0.10234	0.062000	0.16340	-0.120000	0.15030	TCT	ZNF132	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000131849		0.453	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF132	HGNC	protein_coding	OTTHUMT00000467035.1		0	31	0	G	NM_003433		58946575	-1			no_errors	ENST00000254166	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.041	T	T	58946575	G	T	58946575	3	4	137	1	0	0	0	0	1	0	0	0	17770	942	33	3	1888	3	ZNF132	19	58946575	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	4098162	58946575	182408	209	35127											
STK35	140901	genome.wustl.edu	37	chr20	2097509	2097509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcacagggacctgaagccaGacaacatcctcatcacagag	14	5	9	13	0	2	3	2	1	0	2	3	4	3	4	3	1	3	1	3	1	2	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr20:2097509G>C	ENST00000381482.3	+	3	1361	c.1090G>C	c.(1090-1092)Gac>Cac	p.D364H	STK35_ENST00000246032.3_Missense_Mutation_p.D231H|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	364	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCTGAAGCCAGACAACATCCT	0.557																																																	0													85	80	82					20																	2097509		2203	4300	6503	SO:0001583	missense	0			AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"CLP-36 interacting kinase"	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1090G>C	20.37:g.2097509G>C	ENSP00000370891:p.Asp364His		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D364H	ENST00000381482.3	37	c.1090	CCDS13024.2	20	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219783	0.79464	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	D;D	0.93859	-3.3;-3.3	5.5	5.5	0.81552	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	0.94735	0.8301	L	0.37850	1.14	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.95019	0.8159	10	0.87932	D	0	-24.5144	16.94	0.86215	0.0:0.0:1.0:0.0	.	364	Q8TDR2	STK35_HUMAN	H	364;231	ENSP00000370891:D364H;ENSP00000246032:D231H	ENSP00000246032:D231H	D	+	1	0	STK35	2045509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.861000	0.98227	0.655000	0.94253	GAC	STK35	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000125834		0.557	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK35	HGNC	protein_coding	OTTHUMT00000077574.3		0	18	0	G	NM_080836		2097509	1			no_errors	ENST00000381482	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	C	C	2097509	G	C	2097509	3	2	137	1	0	0	0	0	1	0	0	0	15348	942	33	5	1100	5	STK35	20	2097509	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09		2097509	60928011	210	35128											
SPEF1	25876	genome.wustl.edu	37	chr20	3758928	3758928	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atccgcacattcttgagctgGagcaggtgctccaggcgcct	7	9	12	13	2	1	1	0	1	1	0	3	2	3	2	3	3	3	4	3	3	0	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr20:3758928G>C	ENST00000379756.3	-	7	802	c.642C>G	c.(640-642)ctC>ctG	p.L214L	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	214						axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TCTTGAGCTGGAGCAGGTGCT	0.711																																																	0													20	22	21					20																	3758928		1877	4093	5970	SO:0001819	synonymous_variant	0			AL080154	CCDS13063.2	20p13	2013-09-23	2007-08-20	2007-08-20	ENSG00000101222	ENSG00000101222			15874	protein-coding gene	gene with protein product		610674	"chromosome 20 open reading frame 28"	C20orf28		15979255	Standard	NM_015417		Approved	DKFZP434I114, SPEF1A	uc002wjj.3	Q9Y4P9	OTTHUMG00000031756	ENST00000379756.3:c.642C>G	20.37:g.3758928G>C			A5YM71|D3DVY0|Q5JX78	Silent	SNP	pfam_DUF1042,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain	p.L214	ENST00000379756.3	37	c.642	CCDS13063.2	20																																																																																			SPEF1	-	NULL	ENSG00000101222		0.711	SPEF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEF1	HGNC	protein_coding	OTTHUMT00000077760.2	-	0	48	0	G			3758928	-1	tier1	-	no_errors	ENST00000379756	ensembl	human	known	74_37	silent	38.46	16	10	SNP	0.982	C	C	3758928	G	C	3758928	2	2	137	1	0	0	0	0	0	0	0	1	15081	1161	41	5		5	SPEF1	20	3758928	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	1661419	3758928	59266592	211	35129											
PLK1S1	0	genome.wustl.edu	37	chr20	21106771	21106771	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagcatgagccggaccctCgcatcggccgtgcccctgtc	6	6	12	17	4	0	1	0	1	0	0	3	2	0	2	5	2	4	3	5	2	0	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr20:21106771C>T								LINC00237 (24571 upstream) : RNA5SP477 (12825 downstream)																							GCCGGACCCTCGCATCGGCCG	0.716																																																	0													4	6	5					20																	21106771		1809	3810	5619	SO:0001628	intergenic_variant	0																															20.37:g.21106771C>T				RNA	SNP	-	NULL		37	NULL		20																																																																																			PLK1S1	-	-	ENSG00000088970	0	0.716					PLK1S1	HGNC			-	0	18	0	C			21106771	1	tier1	-	no_errors	ENST00000246027	ensembl	human	known	74_37	rna	27.27	16	6	SNP	0.000	T	T	21106771	C	T	21106771	1	4	137	0	1	0	0	0	0	0	0	0	12134	871	31	1		1	PLK1S1	20	21106771	IGR	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	17347843	21106771	41918749	212	35130											
ITCH	83737	genome.wustl.edu	37	chr20	33049899	33049899	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttcctgtgtttcgtagtCaattaaatgaaaagccctta	11	17	6	7	1	1	1	1	1	0	0	3	1	2	1	2	0	1	2	2	0	7	6	rs372589721		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr20:33049899C>T	ENST00000262650.6	+	15	1556	c.1420C>T	c.(1420-1422)Caa>Taa	p.Q474*	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Splice_Site_p.Q323*|ITCH_ENST00000374864.4_Splice_Site_p.Q433*			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	474					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|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)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GTTTCGTAGTCAATTAAATGA	0.338																																																	0													73	74	74					20																	33049899		2203	4300	6503	SO:0001630	splice_region_variant	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1419-1C>T	20.37:g.33049899C>T			A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Nonsense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.Q474*	ENST00000262650.6	37	c.1420	CCDS58768.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.259659	0.98171	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	.	.	.	5.7	5.7	0.88788	.	0.321128	0.33040	N	0.005348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.4391	0.94811	0.0:1.0:0.0:0.0	.	.	.	.	X	433;323;474	.	ENSP00000262650:Q474X	Q	+	1	0	ITCH	32513560	0.997000	0.39634	1.000000	0.80357	0.942000	0.58702	3.220000	0.51207	2.690000	0.91761	0.650000	0.86243	CAA	ITCH	-	NULL	ENSG00000078747		0.338	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	-	0	67	0	C		Nonsense_Mutation	33049899	1	tier1	-	no_errors	ENST00000262650	ensembl	human	known	74_37	nonsense	8.64	74	7	SNP	1.000	T	T	33049899	C	T	33049899	5	4	137	1	0	0	0	0	0	0	1	0	7895	840	29	3	1343	3	ITCH	20	33049899	Splice_Site	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	11943128	33049899	29975621	213	35131											
ACTR5	79913	genome.wustl.edu	37	chr20	37383788	37383788	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agaagctgcagctggatcagGagcgtctggaccgactgcta	10	7	14	10	2	2	1	1	0	1	1	2	5	2	4	1	3	5	4	1	3	2	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr20:37383788G>C	ENST00000243903.4	+	4	1001	c.964G>C	c.(964-966)Gag>Cag	p.E322Q		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	322					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)				GCTGGATCAGGAGCGTCTGGA	0.552																																																	0													21	23	22					20																	37383788		2202	4300	6502	SO:0001583	missense	0			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.964G>C	20.37:g.37383788G>C	ENSP00000243903:p.Glu322Gln		Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.E322Q	ENST00000243903.4	37	c.964	CCDS13308.1	20	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357260	0.82243	.	.	ENSG00000101442	ENST00000243903	D	0.96232	-3.95	5.86	5.86	0.93980	.	0.046592	0.85682	D	0.000000	D	0.96781	0.8949	L	0.38649	1.16	0.51767	D	0.999936	D	0.67145	0.996	D	0.67725	0.953	D	0.95584	0.8649	10	0.30854	T	0.27	-35.7498	20.1726	0.98160	0.0:0.0:1.0:0.0	.	322	Q9H9F9	ARP5_HUMAN	Q	322	ENSP00000243903:E322Q	ENSP00000243903:E322Q	E	+	1	0	ACTR5	36817202	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.094000	0.76944	2.777000	0.95525	0.655000	0.94253	GAG	ACTR5	-	pfam_Actin-related,smart_Actin-related	ENSG00000101442		0.552	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2		0	66	0	G	NM_024855		37383788	1			no_errors	ENST00000243903	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	C	C	37383788	G	C	37383788	3	2	137	1	0	0	0	0	1	0	0	0	215	1175	41	5	978	5	ACTR5	20	37383788	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	4333889	37383788	25641732	214	35132											
CDH4	1002	genome.wustl.edu	37	chr20	60470103	60470103	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatttaccgccagcacGgtgagtccctcgaagctgcc	9	7	10	15	3	0	2	0	1	0	1	2	3	1	2	5	1	4	2	5	1	3	2	rs143299049	byFrequency	TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr20:60470103G>T	ENST00000360469.5	+	8	1276	c.1188G>T	c.(1186-1188)acG>acT	p.T396T	CDH4_ENST00000543233.1_Splice_Site_p.T322T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	396	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCGCCAGCACGGTGAGTCCCT	0.582																																																	0													184	147	160					20																	60470103		2203	4300	6503	SO:0001630	splice_region_variant	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1188+1G>T	20.37:g.60470103G>T			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.T396	ENST00000360469.5	37	c.1188	CCDS13488.1	20																																																																																			CDH4	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000179242		0.582	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0	44	0	G	NM_001794	Silent	60470103	1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.924	T	T	60470103	G	T	60470103	5	4	137	1	0	0	0	0	0	0	1	0	3119	1130	39	2	1218	2	CDH4	20	60470103	Splice_Site	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	23086315	60470103	2555417	215	35133											
PRPF6	57473	genome.wustl.edu	37	chr20	62654208	62654208	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggctgcgcgccgcgtaCttcgagaagaaccatggcac	8	7	14	12	5	0	2	0	0	0	2	1	3	0	2	2	2	3	3	2	2	3	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr20:62654208C>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Silent_p.Y582Y|ZNF512B_ENST00000217130.3_Intron			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)					GCGCCGCGTACTTCGAGAAGA	0.572																																																	0													109	92	98					20																	62654208		2203	4300	6503	SO:0001627	intron_variant	0			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+25849G>A	20.37:g.62654208C>T			Q08AK9|Q9ULM4	Silent	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.Y582	ENST00000450537.1	37	c.1746	CCDS13548.1	20																																																																																			PRPF6	-	smart_HAT	ENSG00000101161		0.572	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	-	0	73	0	C	NM_020713		62654208	1	tier1	-	no_errors	ENST00000266079	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	T	T	62654208	C	T	62654208	1	4	137	0	1	0	0	0	0	0	0	0	12616	576	20	3		3	PRPF6	20	62654208	Intron	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	2184105	62654208	371312	216	35134											
KRTAP10-3	386682	genome.wustl.edu	37	chr21	45978578	45978578	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtaagcgctggagcagacGgacatggtagacgtggccat	11	6	16	8	3	0	2	0	0	0	2	0	5	0	4	1	4	2	4	1	4	2	2	rs201902293	byFrequency	TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr21:45978578G>T	ENST00000391620.1	-	1	65	c.21C>A	c.(19-21)tcC>tcA	p.S7S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	7						keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						TGGAGCAGACGGACATGGTAG	0.662																																																	0													67	65	66					21																	45978578		2203	4300	6503	SO:0001819	synonymous_variant	0			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.21C>A	21.37:g.45978578G>T			A3KN67|Q70LJ4	Silent	SNP	NULL	p.S7	ENST00000391620.1	37	c.21	CCDS42956.1	21																																																																																			KRTAP10-3	-	NULL	ENSG00000212935		0.662	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-3	HGNC	protein_coding	OTTHUMT00000128031.1	-	0	99	0	G			45978578	-1	tier1	-	no_errors	ENST00000391620	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.800	T	T	45978578	G	T	45978578	2	4	137	1	0	0	0	0	0	0	0	1	8537	1103	39	2		2	KRTAP10-3	21	45978578	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09		45978578	2151317	217	35135											
CCT8L2	150160	genome.wustl.edu	37	chr22	17072515	17072515	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatcaccacgatgccatacTtgtccgccagtgtgagggtc	9	9	11	12	2	1	1	1	1	0	0	3	3	2	1	4	1	2	0	4	1	2	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr22:17072515T>G	ENST00000359963.3	-	1	1185	c.926A>C	c.(925-927)aAg>aCg	p.K309T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	309					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)				GATGCCATACTTGTCCGCCAG	0.537																																																	0													193	169	177					22																	17072515		2203	4300	6503	SO:0001583	missense	0			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.926A>C	22.37:g.17072515T>G	ENSP00000353048:p.Lys309Thr		A4QPH3|Q9UJS3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1	p.K309T	ENST00000359963.3	37	c.926	CCDS13738.1	22	.	.	.	.	.	.	.	.	.	.	t	6.225	0.409662	0.11812	.	.	ENSG00000198445	ENST00000359963	T	0.78924	-1.22	1.98	-0.526	0.11913	.	1.306370	0.05662	U	0.587080	D	0.83013	0.5162	M	0.67700	2.07	0.09310	N	1	P	0.49358	0.923	P	0.59012	0.85	T	0.67273	-0.5712	10	0.72032	D	0.01	-0.9121	5.1345	0.14928	0.0:0.3368:0.0:0.6632	.	309	Q96SF2	TCPQM_HUMAN	T	309	ENSP00000353048:K309T	ENSP00000353048:K309T	K	-	2	0	CCT8L2	15452515	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.193000	0.09573	-0.564000	0.06070	-1.428000	0.01097	AAG	CCT8L2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	ENSG00000198445		0.537	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8L2	HGNC	protein_coding	OTTHUMT00000280580.1	-	0	43	0	T			17072515	-1	tier1	-	no_errors	ENST00000359963	ensembl	human	known	74_37	missense	22.54	55	16	SNP	0.000	G	G	17072515	T	G	17072515	3	3	137	1	0	0	0	0	1	0	0	0	2968	1609	56	4	751	4	CCT8L2	22	17072515	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09		17072515	34232051	218	35136											
ZNF280A	129025	genome.wustl.edu	37	chr22	22869365	22869365	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagaagacatatctgaaGggaccacagctaaagaaggt	16	8	11	6	0	1	4	0	1	1	3	1	5	1	5	1	2	1	2	1	2	7	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr22:22869365G>C	ENST00000302097.3	-	2	842	c.590C>G	c.(589-591)cCt>cGt	p.P197R	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	197					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)		CATATCTGAAGGGACCACAGC	0.433																																																	0													127	117	120					22																	22869365		2203	4300	6503	SO:0001583	missense	0			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.590C>G	22.37:g.22869365G>C	ENSP00000302855:p.Pro197Arg			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P197R	ENST00000302097.3	37	c.590	CCDS13800.1	22	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230970	0.39399	.	.	ENSG00000169548	ENST00000302097	T	0.25250	1.81	3.57	-4.65	0.03339	.	.	.	.	.	T	0.23451	0.0567	L	0.49126	1.545	0.09310	N	1	P	0.48911	0.917	P	0.49887	0.625	T	0.12400	-1.0549	9	0.59425	D	0.04	0.49	1.1739	0.01831	0.4323:0.1528:0.2597:0.1552	.	197	P59817	Z280A_HUMAN	R	197	ENSP00000302855:P197R	ENSP00000302855:P197R	P	-	2	0	ZNF280A	21199365	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.046000	0.11983	-0.852000	0.04141	-0.137000	0.14449	CCT	ZNF280A	-	NULL	ENSG00000169548		0.433	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280A	HGNC	protein_coding	OTTHUMT00000075433.3	-	0	40	0	G	NM_080740		22869365	-1	tier1	-	no_errors	ENST00000302097	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.000	C	C	22869365	G	C	22869365	3	2	137	1	0	0	0	0	1	0	0	0	17862	1000	35	5	1042	5	ZNF280A	22	22869365	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	5796850	22869365	28435201	219	35137											
C22orf31	25770	genome.wustl.edu	37	chr22	29455150	29455150	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcggactgttagttttttCtcctttgaactttctttact	5	21	7	8	1	2	1	0	1	2	0	3	2	2	2	1	2	2	2	1	2	3	8			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr22:29455150C>G	ENST00000216071.4	-	3	504	c.453G>C	c.(451-453)gaG>gaC	p.E151D		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	151										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TTAGTTTTTTCTCCTTTGAAC	0.478																																																	0													108	100	103					22																	29455150		2203	4300	6503	SO:0001583	missense	0			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.453G>C	22.37:g.29455150C>G	ENSP00000216071:p.Glu151Asp		A0AV97	Missense_Mutation	SNP	NULL	p.E151D	ENST00000216071.4	37	c.453	CCDS13848.1	22	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884650	0.51908	.	.	ENSG00000100249	ENST00000216071	T	0.36520	1.25	5.64	4.6	0.57074	.	0.106553	0.41938	D	0.000791	T	0.36580	0.0972	L	0.29908	0.895	0.27022	N	0.96446	P	0.49961	0.93	P	0.54372	0.75	T	0.09378	-1.0677	10	0.29301	T	0.29	-23.3709	10.7217	0.46044	0.0:0.9125:0.0:0.0875	.	151	O95567	CV031_HUMAN	D	151	ENSP00000216071:E151D	ENSP00000216071:E151D	E	-	3	2	C22orf31	27785150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.550000	0.23345	2.937000	0.99478	0.650000	0.86243	GAG	C22orf31	-	NULL	ENSG00000100249		0.478	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf31	HGNC	protein_coding	OTTHUMT00000320952.1	-	0	35	0	C	NM_015370		29455150	-1	tier1	-	no_errors	ENST00000216071	ensembl	human	known	74_37	missense	22.22	42	12	SNP	1.000	G	G	29455150	C	G	29455150	3	3	137	1	0	0	0	0	1	0	0	0	2150	912	32	5	423	5	C22orf31	22	29455150	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	6585785	29455150	21849416	220	35138											
MORC2	22880	genome.wustl.edu	37	chr22	31330084	31330084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcctccttcacaacaaatCtgccccgcttgcacctctcc	7	12	3	19	1	3	0	1	0	2	0	6	0	5	0	6	0	3	2	6	0	2	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr22:31330084C>G	ENST00000397641.3	-	20	2696	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T	MORC2_ENST00000215862.4_Missense_Mutation_p.R701T|MORC2_ENST00000469915.1_5'Flank|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	763						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						CACAACAAATCTGCCCCGCTT	0.552																																																	0													218	171	187					22																	31330084		2203	4300	6503	SO:0001583	missense	0			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.2288G>C	22.37:g.31330084C>G	ENSP00000380763:p.Arg763Thr		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW	p.R763T	ENST00000397641.3	37	c.2288		22	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613132	0.46631	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.12255	2.7;2.7	5.95	3.84	0.44239	.	0.363117	0.30667	N	0.009134	T	0.08447	0.0210	N	0.24115	0.695	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.27640	-1.0068	10	0.21014	T	0.42	.	7.7515	0.28901	0.0:0.2333:0.0:0.7667	.	763	Q9Y6X9	MORC2_HUMAN	T	763;701	ENSP00000380763:R763T;ENSP00000215862:R701T	ENSP00000215862:R701T	R	-	2	0	MORC2	29660084	0.972000	0.33761	0.978000	0.43139	0.939000	0.58152	1.584000	0.36589	0.512000	0.28257	-0.302000	0.09304	AGA	MORC2	-	NULL	ENSG00000133422		0.552	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	HGNC	protein_coding	OTTHUMT00000321710.2	-	0	61	0	C	NM_014941		31330084	-1	tier1	-	no_errors	ENST00000397641	ensembl	human	known	74_37	missense	19.39	79	19	SNP	0.850	G	G	31330084	C	G	31330084	3	3	137	1	0	0	0	0	1	0	0	0	9740	913	32	5	838	5	MORC2	22	31330084	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	1874934	31330084	19974482	221	35139											
C22orf28	51493	genome.wustl.edu	37	chr22	32802744	32802744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacatcaggaagcccaataGatcgctgaaaaagaattaga	18	6	10	7	1	1	4	1	1	0	3	2	6	1	6	1	2	1	1	1	2	7	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr22:32802744G>C	ENST00000216038.5	-	4	343	c.245C>G	c.(244-246)tCt>tGt	p.S82C	RTCB_ENST00000476619.1_5'UTR|RTCB_ENST00000451746.2_Missense_Mutation_p.S82C	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		AAGCCCAATAGATCGCTGAAA	0.453																																																	0													114	110	111					22																	32802744		2203	4300	6503	SO:0001583	missense	0			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.245C>G	22.37:g.32802744G>C	ENSP00000216038:p.Ser82Cys			Missense_Mutation	SNP	pfam_RtcB,superfamily_RtcB	p.S82C	ENST00000216038.5	37	c.245	CCDS13905.1	22	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801757	0.90538	.	.	ENSG00000100220	ENST00000216038;ENST00000451746	T;T	0.32023	1.47;1.47	5.75	5.75	0.90469	.	0.099034	0.64402	D	0.000001	T	0.66626	0.2808	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73733	-0.3890	10	0.87932	D	0	-16.465	19.9439	0.97175	0.0:0.0:1.0:0.0	.	82	Q9Y3I0	RTCB_HUMAN	C	82	ENSP00000216038:S82C;ENSP00000413466:S82C	ENSP00000216038:S82C	S	-	2	0	C22orf28	31132744	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	9.738000	0.98835	2.706000	0.92434	0.561000	0.74099	TCT	RTCB	-	pfam_RtcB,superfamily_RtcB	ENSG00000100220		0.453	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTCB	HGNC	protein_coding	OTTHUMT00000075188.3	-	0	21	0	G	NM_014306		32802744	-1	tier1	-	no_errors	ENST00000216038	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	C	C	32802744	G	C	32802744	3	2	137	1	0	0	0	0	1	0	0	0	2147	942	33	5	1308	5	C22orf28	22	32802744	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	1472660	32802744	18501822	222	35140											
LARGE	9215	genome.wustl.edu	37	chr22	33673135	33673135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggcagtcacgtctcacaaCaacatacggctcaaaatcgg	13	6	9	13	4	3	0	3	0	1	0	5	0	3	0	0	3	3	2	0	3	5	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr22:33673135C>G	ENST00000354992.2	-	15	2555	c.1984G>C	c.(1984-1986)Gtt>Ctt	p.V662L	LARGE_ENST00000402320.1_Missense_Mutation_p.V610L|LARGE_ENST00000452586.2_Missense_Mutation_p.V461L|LARGE_ENST00000397394.2_Missense_Mutation_p.V662L|LARGE_ENST00000437602.2_Missense_Mutation_p.V613L|LARGE_ENST00000337431.2_Missense_Mutation_p.V610L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	662					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)				CGTCTCACAACAACATACGGC	0.572																																					Colon(70;397 1175 4573 19089 45288)												0													101	86	91					22																	33673135		2203	4300	6503	SO:0001583	missense	0			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.1984G>C	22.37:g.33673135C>G	ENSP00000347088:p.Val662Leu		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.V662L	ENST00000354992.2	37	c.1984	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835043	0.50951	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.5	5.5	0.81552	.	0.047153	0.85682	D	0.000000	T	0.43919	0.1269	L	0.53617	1.68	0.58432	D	0.99999	B;B;B;B	0.32876	0.388;0.006;0.337;0.388	B;B;B;B	0.44044	0.439;0.086;0.312;0.323	T	0.28618	-1.0038	10	0.51188	T	0.08	-9.0773	19.7664	0.96346	0.0:1.0:0.0:0.0	.	613;461;610;662	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	L	662;610;662;610;461;613	ENSP00000347088:V662L;ENSP00000336636:V610L;ENSP00000380549:V662L;ENSP00000385223:V610L;ENSP00000407917:V461L;ENSP00000388544:V613L	ENSP00000336636:V610L	V	-	1	0	LARGE	32003135	0.974000	0.33945	0.203000	0.23512	0.864000	0.49448	2.320000	0.43797	2.735000	0.93741	0.655000	0.94253	GTT	LARGE	-	NULL	ENSG00000133424		0.572	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	-	0	26	0	C	NM_133642		33673135	-1	tier1	-	no_errors	ENST00000354992	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.968	G	G	33673135	C	G	33673135	3	3	137	1	0	0	0	0	1	0	0	0	8655	478	17	5	294	5	LARGE	22	33673135	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	870391	33673135	17631431	223	35141											
ADSL	158	genome.wustl.edu	37	chr22	40757555	40757555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttgctgcagtcttgcccGccacctgatgacccttgtca	6	11	9	15	2	2	2	1	2	1	0	2	2	2	2	4	0	3	3	4	0	0	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr22:40757555G>A	ENST00000216194.7	+	9	982	c.926G>A	c.(925-927)cGc>cAc	p.R309H	ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000454266.2_Missense_Mutation_p.R323H|ADSL_ENST00000342312.6_Missense_Mutation_p.R309H	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	309					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						AGTCTTGCCCGCCACCTGATG	0.532																																					Colon(4;65 130 1097 1516)												0													146	117	127					22																	40757555		2203	4300	6503	SO:0001583	missense	0			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.926G>A	22.37:g.40757555G>A	ENSP00000216194:p.Arg309His		B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase	p.R323H	ENST00000216194.7	37	c.968	CCDS14001.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.731123	0.96856	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	T;T;T	0.73897	-0.79;-0.79;-0.79	5.91	5.91	0.95273	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	H	0.97758	4.07	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	0.93979	0.7256	10	0.87932	D	0	-17.1946	20.2985	0.98592	0.0:0.0:1.0:0.0	.	323;309;309;309	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	H	309;323;129;309	ENSP00000216194:R309H;ENSP00000390107:R323H;ENSP00000341429:R309H	ENSP00000216194:R309H	R	+	2	0	ADSL	39087501	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.026000	0.93700	2.793000	0.96121	0.655000	0.94253	CGC	ADSL	-	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Pur_lyase	ENSG00000239900		0.532	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSL	HGNC	protein_coding	OTTHUMT00000321386.1	-	0	15	0	G	NM_000026		40757555	1	tier1	-	no_errors	ENST00000454266	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	A	A	40757555	G	A	40757555	3	1	137	1	0	0	0	0	1	0	0	0	346	1087	38	1	960	1	ADSL	22	40757555	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	7084420	40757555	10547011	224	35142											
CYB5R3	1727	genome.wustl.edu	37	chr22	43027454	43027454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccgggtgtcatggctgatGatctggagagaggcccaaag	9	7	16	9	2	2	3	1	2	1	1	2	5	2	4	2	4	0	1	2	4	1	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr22:43027454G>A	ENST00000352397.5	-	3	408	c.156C>T	c.(154-156)atC>atT	p.I52I	CYB5R3_ENST00000402438.1_Silent_p.I29I|CYB5R3_ENST00000407332.1_Silent_p.I29I|CYB5R3_ENST00000396303.3_Silent_p.I29I|CYB5R3_ENST00000361740.4_Silent_p.I85I|CYB5R3_ENST00000407623.3_Silent_p.I29I	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	52	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	CATGGCTGATGATCTGGAGAG	0.672																																																	0													79	87	85					22																	43027454		1807	3377	5184	SO:0001819	synonymous_variant	0			M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"diaphorase (NADH) (cytochrome b-5 reductase)"	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.156C>T	22.37:g.43027454G>A			B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Silent	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	p.I85	ENST00000352397.5	37	c.255	CCDS33658.1	22																																																																																			CYB5R3	-	pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000100243		0.672	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R3	HGNC	protein_coding	OTTHUMT00000320439.1	-	0	41	0	G			43027454	-1	tier1	-	no_errors	ENST00000361740	ensembl	human	known	74_37	silent	24.39	62	20	SNP	0.772	A	A	43027454	G	A	43027454	2	1	137	1	0	0	0	0	0	0	0	1	4137	1280	45	3		3	CYB5R3	22	43027454	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	2269899	43027454	8277112	225	35143											
SCUBE1	80274	genome.wustl.edu	37	chr22	43616536	43616536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tggatggggacttgcggccaCggcgcctcttcttggaggag	5	9	17	10	3	2	0	0	0	2	0	2	4	2	4	2	7	1	0	2	7	0	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chr22:43616536C>T	ENST00000360835.4	-	14	1733	c.1607G>A	c.(1606-1608)cGt>cAt	p.R536H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	536					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)	p.R536H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTTGCGGCCACGGCGCCTCTT	0.577																																																	1	Substitution - Missense(1)	kidney(1)											138	113	121					22																	43616536		2203	4300	6503	SO:0001583	missense	0				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1607G>A	22.37:g.43616536C>T	ENSP00000354080:p.Arg536His		Q5R336	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.R536H	ENST00000360835.4	37	c.1607	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787905	0.90367	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.86030	-2.06	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	L	0.59436	1.845	0.80722	D	1	B	0.18863	0.031	B	0.16722	0.016	T	0.79657	-0.1712	10	0.36615	T	0.2	.	18.202	0.89842	0.0:1.0:0.0:0.0	.	536	Q8IWY4	SCUB1_HUMAN	H	536;166	ENSP00000354080:R536H	ENSP00000354080:R536H	R	-	2	0	SCUBE1	41946480	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	5.544000	0.67231	2.518000	0.84900	0.655000	0.94253	CGT	SCUBE1	-	NULL	ENSG00000159307		0.577	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	-	0	68	0	C	NM_173050		43616536	-1	tier1	-	no_errors	ENST00000360835	ensembl	human	known	74_37	missense	29.47	67	28	SNP	1.000	T	T	43616536	C	T	43616536	3	4	137	1	0	0	0	0	1	0	0	0	13989	536	19	1	1395	1	SCUBE1	22	43616536	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	589082	43616536	7688030	226	35144											
FANCB	2187	genome.wustl.edu	37	chrX	14883004	14883004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaatatacacaaaatttgGtattccaaattgcataatct	17	13	5	6	0	1	1	0	0	1	1	2	2	2	1	1	1	2	2	1	1	8	7			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:14883004G>T	ENST00000324138.3	-	2	782	c.629C>A	c.(628-630)aCc>aAc	p.T210N	FANCB_ENST00000398334.1_Missense_Mutation_p.T210N	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	210					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACAAAATTTGGTATTCCAAAT	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													75	79	78					X																	14883004		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.629C>A	X.37:g.14883004G>T	ENSP00000326819:p.Thr210Asn		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	NULL	p.T210N	ENST00000324138.3	37	c.629	CCDS14161.1	X	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305166	0.40795	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.03413	3.94;3.94;3.94	5.56	4.68	0.58851	.	0.636534	0.16407	N	0.215771	T	0.15349	0.0370	M	0.64997	1.995	0.09310	N	0.999999	D	0.76494	0.999	D	0.67382	0.951	T	0.02933	-1.1092	10	0.72032	D	0.01	-1.1897	14.9995	0.71462	0.0:0.2795:0.7205:0.0	.	210	Q8NB91	FANCB_HUMAN	N	210	ENSP00000326819:T210N;ENSP00000381378:T210N;ENSP00000397849:T210N	ENSP00000326819:T210N	T	-	2	0	FANCB	14792925	0.954000	0.32549	0.012000	0.15200	0.551000	0.35334	2.125000	0.42016	1.201000	0.43203	0.600000	0.82982	ACC	FANCB	-	NULL	ENSG00000181544		0.318	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	-	0	41	0	G	NM_152633		14883004	-1	tier1	-	no_errors	ENST00000324138	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.304	T	T	14883004	G	T	14883004	3	4	137	1	0	0	0	0	1	0	0	0	5685	1261	44	3	1982	3	FANCB	23	14883004	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09		14883004	140387556	227	35145											
MAP3K15	389840	genome.wustl.edu	37	chrX	19391656	19391656	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagaatacgggtgtacctGaggaggtggccaaggtggtg	10	7	18	6	1	0	2	0	1	0	1	0	4	0	3	2	6	2	1	2	6	4	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:19391656G>C	ENST00000338883.4	-	21	2930	c.2931C>G	c.(2929-2931)ctC>ctG	p.L977L	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Silent_p.L412L|MAP3K15_ENST00000469203.2_Silent_p.L809L	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	977							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)					GGGTGTACCTGAGGAGGTGGC	0.667																																																	0													30	25	27					X																	19391656		2125	4165	6290	SO:0001819	synonymous_variant	0			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.2931C>G	X.37:g.19391656G>C			A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L977	ENST00000338883.4	37	c.2931		X																																																																																			MAP3K15	-	NULL	ENSG00000180815		0.667	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		-	0	62	0	G	NM_001001671		19391656	-1	tier1	-	no_errors	ENST00000338883	ensembl	human	known	74_37	silent	40.00	51	34	SNP	0.561	C	C	19391656	G	C	19391656	2	2	137	1	0	0	0	0	0	0	0	1	9287	1277	45	5		5	MAP3K15	23	19391656	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	4508652	19391656	135878904	228	35146											
MAP3K15	389840	genome.wustl.edu	37	chrX	19418722	19418722	+	Missense_Mutation	SNP	T	T	A	0	1	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	tgtctccatcggtctctcccTccagctccaccgtactgcct	4	12	6	19	2	2	0	0	0	2	0	8	0	5	0	6	1	3	2	6	1	1	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:19418722T>A	ENST00000338883.4	-	14	1903	c.1904A>T	c.(1903-1905)gAg>gTg	p.E635V	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.E70V|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E467V	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	635							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)					GGTCTCTCCCTCCAGCTCCAC	0.443																																																	0													389	329	349					X																	19418722		2203	4300	6503	SO:0001583	missense	0			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.1904A>T	X.37:g.19418722T>A	ENSP00000345629:p.Glu635Val		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E635V	ENST00000338883.4	37	c.1904		X	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840130	0.71488	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.74209	-0.79;-0.82;-0.78	5.13	5.13	0.70059	.	0.051244	0.85682	D	0.000000	D	0.83783	0.5329	M	0.69248	2.105	0.54753	D	0.999985	D;D	0.89917	0.997;1.0	D;D	0.69142	0.962;0.931	D	0.85520	0.1203	10	0.66056	D	0.02	.	14.1158	0.65151	0.0:0.0:0.0:1.0	.	110;635	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	V	635;70;467	ENSP00000345629:E635V;ENSP00000352093:E70V;ENSP00000428356:E467V	ENSP00000345629:E635V	E	-	2	0	MAP3K15	19328643	1.000000	0.71417	0.961000	0.40146	0.603000	0.37013	5.553000	0.67287	1.711000	0.51337	0.483000	0.47432	GAG	MAP3K15	-	NULL	ENSG00000180815		0.443	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		-	0	87	0	T	NM_001001671		19418722	-1	tier1	-	no_errors	ENST00000338883	ensembl	human	known	74_37	missense	35.00	52	28	SNP	1.000	A	A	19418722	T	A	19418722	3	1	137	1	0	0	0	0	1	0	0	0	9287	1551	54	5	2101	5	MAP3K15	23	19418722	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	27066	19418722	135851838	229	35147											
DCAF8L2	347442	genome.wustl.edu	37	chrX	27765402	27765402	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggaggaggaggaagaGgaggaggaggaggaggagga	14	0	27	0	0	0	1	0	0	0	1	0	13	0	13	0	13	0	0	0	13	1	0	rs371896121		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:27765402G>A	ENST00000451261.2	+	5	789	c.390G>A	c.(388-390)gaG>gaA	p.E130E		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	130	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggaggaagaggaggaggagg	0.562																																																	0													22	19	20					X																	27765402		692	1589	2281	SO:0001819	synonymous_variant	0				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.390G>A	X.37:g.27765402G>A			B2RXH9|J3KT06	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E130	ENST00000451261.2	37	c.390	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL	ENSG00000189186		0.562	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4		0	8	0	G	XM_293354		27765402	1			no_errors	ENST00000451261	ensembl	human	known	74_37	silent	33.33	10	5	SNP	0.002	A	A	27765402	G	A	27765402	2	1	137	1	0	0	0	0	0	0	0	1	4287	991	35	3		3	DCAF8L2	23	27765402	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	8346680	27765402	127505158	230	35148											
UBA1	7317	genome.wustl.edu	37	chrX	47074032	47074032	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcaaggaacggttggatCagccgtgagttggacactgg	10	8	15	8	2	2	1	2	1	0	0	2	4	2	4	1	5	3	3	1	5	2	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:47074032C>G	ENST00000335972.6	+	25	3220	c.3037C>G	c.(3037-3039)Cag>Gag	p.Q1013E	UBA1_ENST00000377351.4_Missense_Mutation_p.Q1013E|UBA1_ENST00000377269.3_Missense_Mutation_p.Q461E	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	1013					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						ACGGTTGGATCAGCCGTGAGT	0.572																																																	0													68	44	52					X																	47074032		2203	4300	6503	SO:0001583	missense	0			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.3037C>G	X.37:g.47074032C>G	ENSP00000338413:p.Gln1013Glu		Q5JRR8|Q96E13	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.Q1013E	ENST00000335972.6	37	c.3037	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	c	16.87	3.241646	0.58995	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.42131	0.98;0.98;1.56	5.38	5.38	0.77491	Ubiquitin-activating enzyme e1, C-terminal (1);	0.066513	0.64402	D	0.000008	T	0.50188	0.1601	M	0.70595	2.14	0.43263	D	0.995201	B;B	0.26672	0.156;0.053	B;B	0.36030	0.216;0.079	T	0.47071	-0.9145	10	0.33940	T	0.23	-17.3894	17.1756	0.86841	0.0:1.0:0.0:0.0	.	461;1013	Q5JRR6;P22314	.;UBA1_HUMAN	E	1013;1013;461	ENSP00000366568:Q1013E;ENSP00000338413:Q1013E;ENSP00000366481:Q461E	ENSP00000338413:Q1013E	Q	+	1	0	UBA1	46958976	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.364000	0.59479	2.409000	0.81822	0.525000	0.51046	CAG	UBA1	-	pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.572	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	-	0	29	0	C	NM_003334		47074032	1	tier1	-	no_errors	ENST00000335972	ensembl	human	known	74_37	missense	28.57	30	12	SNP	1.000	G	G	47074032	C	G	47074032	3	3	137	1	0	0	0	0	1	0	0	0	16876	827	29	5	3131	5	UBA1	23	47074032	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	19308630	47074032	108196528	231	35149											
CCDC22	28952	genome.wustl.edu	37	chrX	49104664	49104664	+	Missense_Mutation	SNP	T	T	A	0	1	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	ccggccaggcagagtctgagTgccggcacagcaagctcagt	9	5	14	13	2	2	2	1	1	1	1	2	2	2	2	3	3	3	4	3	3	1	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:49104664T>A	ENST00000376227.3	+	10	1275	c.1105T>A	c.(1105-1107)Tgc>Agc	p.C369S		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	369										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						AGAGTCTGAGTGCCGGCACAG	0.647																																																	0													22	23	23					X																	49104664		2199	4290	6489	SO:0001583	missense	0			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.1105T>A	X.37:g.49104664T>A	ENSP00000365401:p.Cys369Ser		A8K7G1	Missense_Mutation	SNP	pfam_DUF812	p.C369S	ENST00000376227.3	37	c.1105	CCDS14322.1	X	.	.	.	.	.	.	.	.	.	.	T	8.090	0.774354	0.16051	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.13	2.75	0.32379	.	0.381500	0.27544	N	0.018891	T	0.22126	0.0533	N	0.19112	0.55	0.28484	N	0.914829	B	0.14805	0.011	B	0.15870	0.014	T	0.08785	-1.0705	9	0.18710	T	0.47	-10.9436	5.8508	0.18691	0.1362:0.0:0.2381:0.6256	.	369	O60826	CCD22_HUMAN	S	369	.	ENSP00000365401:C369S	C	+	1	0	CCDC22	48991608	0.997000	0.39634	0.993000	0.49108	0.117000	0.20001	0.323000	0.19593	1.711000	0.51337	0.381000	0.24937	TGC	CCDC22	-	pfam_DUF812	ENSG00000101997		0.647	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	HGNC	protein_coding	OTTHUMT00000060822.1	-	0	10	0	T	NM_014008		49104664	1	tier1	-	no_errors	ENST00000376227	ensembl	human	known	74_37	missense	45.45	5	5	SNP	0.982	A	A	49104664	T	A	49104664	3	1	137	1	0	0	0	0	1	0	0	0	2804	1696	59	5	1143	5	CCDC22	23	49104664	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	2030632	49104664	106165896	232	35150											
DGKK	139189	genome.wustl.edu	37	chrX	50133337	50133337	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtagttacctcaaatcgtgGtacatccatttcaacctgtc	11	13	6	11	1	2	0	2	0	0	0	5	0	3	0	3	1	3	3	3	1	5	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:50133337G>C	ENST00000376025.2	-	0	1974							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCAAATCGTGGTACATCCATT	0.393																																																	0													189	176	180					X																	50133337		1912	4114	6026			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50133337G>C			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.393	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	-	0	50	0	G	NM_001013742		50133337	-1	tier1	-	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	30.91	38	17	SNP	0.003	C	C	50133337	G	C	50133337	1	2	137	0	1	0	0	0	0	0	0	0	4486	1261	44	5		5	DGKK	23	50133337	RNA	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	1028673	50133337	105137223	233	35151											
KDM5C	8242	genome.wustl.edu	37	chrX	53246370	53246370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccatagctgttgaacttGgaaggctgcacagactgtcg	9	9	13	10	2	0	2	0	1	0	1	1	3	0	3	1	3	3	4	1	3	3	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:53246370G>A	ENST00000375401.3	-	5	1144	c.612C>T	c.(610-612)tcC>tcT	p.S204S	KDM5C_ENST00000404049.3_Silent_p.S203S|KDM5C_ENST00000375379.3_Silent_p.S204S|KDM5C_ENST00000375383.3_Silent_p.S163S|KDM5C_ENST00000452825.3_Silent_p.S137S|KDM5C-IT1_ENST00000412242.1_RNA	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	204					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						TGTTGAACTTGGAAGGCTGCA	0.537			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													148	104	119					X																	53246370		2203	4300	6503	SO:0001819	synonymous_variant	0			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.612C>T	X.37:g.53246370G>A			B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.S204	ENST00000375401.3	37	c.612	CCDS14351.1	X																																																																																			KDM5C	-	NULL	ENSG00000126012		0.537	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	-	0	52	0	G	NM_004187		53246370	-1	tier1	-	no_errors	ENST00000375401	ensembl	human	known	74_37	silent	20.00	48	12	SNP	1.000	A	A	53246370	G	A	53246370	2	1	137	1	0	0	0	0	0	0	0	1	8162	1335	47	3		3	KDM5C	23	53246370	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	3113033	53246370	102024190	234	35152											
HUWE1	10075	genome.wustl.edu	37	chrX	53575129	53575129	+	Missense_Mutation	SNP	T	T	C	0	1	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	gtctgtgcaaatgccactgcTggaggactgtgaggagcatg	9	9	15	8	0	1	1	0	1	1	0	1	4	1	4	1	3	4	3	1	3	1	0			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:53575129T>C	ENST00000342160.3	-	67	10598	c.10141A>G	c.(10141-10143)Agc>Ggc	p.S3381G	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.S3381G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3381					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						ATGCCACTGCTGGAGGACTGT	0.517																																																	0													63	43	50					X																	53575129		2203	4300	6503	SO:0001583	missense	0			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.10141A>G	X.37:g.53575129T>C	ENSP00000340648:p.Ser3381Gly		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.S3381G	ENST00000342160.3	37	c.10141	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.839|4.839	0.156032|0.156032	0.09236|0.09236	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.39592	.|1.07;1.07	5.75|5.75	4.58|4.58	0.56647|0.56647	.|.	.|1.198660	.|0.05797	.|N	.|0.611488	T|T	0.40015|0.40015	0.1100|0.1100	L|L	0.44542|0.44542	1.39|1.39	0.24403|0.24403	N|N	0.994698|0.994698	.|B;B	.|0.13594	.|0.008;0.0	.|B;B	.|0.14578	.|0.011;0.0	T|T	0.33266|0.33266	-0.9875|-0.9875	5|10	.|0.44086	.|T	.|0.13	.|.	9.9805|9.9805	0.41811|0.41811	0.0:0.0816:0.0:0.9184|0.0:0.0816:0.0:0.9184	.|.	.|3381;3365	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	R|G	2414;218|3381	.|ENSP00000340648:S3381G;ENSP00000262854:S3381G	.|ENSP00000262854:S3381G	Q|S	-|-	2|1	0|0	HUWE1|HUWE1	53591854|53591854	0.976000|0.976000	0.34144|0.34144	0.866000|0.866000	0.34008|0.34008	0.666000|0.666000	0.39218|0.39218	1.743000|1.743000	0.38258|0.38258	0.811000|0.811000	0.34303|0.34303	0.430000|0.430000	0.28490|0.28490	CAG|AGC	HUWE1	-	NULL	ENSG00000086758		0.517	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	50	0	T	XM_497119		53575129	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.415	C	C	53575129	T	C	53575129	3	2	137	1	0	0	0	0	1	0	0	0	7488	1580	55	4	3051	4	HUWE1	23	53575129	Missense_Mutation	SNP	T	TCGA-Q9-A6FU-01A-11D-A31U-09	328759	53575129	101695431	235	35153											
FAM120C	54954	genome.wustl.edu	37	chrX	54143073	54143073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	atacaggccaggaaggcccgCatccttctgttcttgtcttc	7	12	9	13	1	3	0	0	0	3	0	5	1	4	1	3	3	1	2	3	3	2	5			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:54143073C>T	ENST00000375180.2	-	10	2273	c.2217G>A	c.(2215-2217)atG>atA	p.M739I	FAM120C_ENST00000328235.4_Missense_Mutation_p.M739I	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	739							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGAAGGCCCGCATCCTTCTGT	0.537																																																	0													159	115	130					X																	54143073		2203	4300	6503	SO:0001583	missense	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2217G>A	X.37:g.54143073C>T	ENSP00000364324:p.Met739Ile		B2RMT7	Missense_Mutation	SNP	NULL	p.M739I	ENST00000375180.2	37	c.2217	CCDS14356.1	X	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117160	0.77323	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.44083	0.93;0.93	4.4	4.4	0.53042	.	0.051200	0.85682	D	0.000000	T	0.47948	0.1473	L	0.46157	1.445	0.80722	D	1	P;P	0.44877	0.845;0.845	P;P	0.49708	0.62;0.503	T	0.51671	-0.8676	10	0.59425	D	0.04	-8.1766	15.2369	0.73438	0.0:1.0:0.0:0.0	.	739;739	F8W881;Q9NX05	.;F120C_HUMAN	I	739	ENSP00000364324:M739I;ENSP00000329896:M739I	ENSP00000329896:M739I	M	-	3	0	FAM120C	54159798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.784000	0.55416	1.911000	0.55334	0.594000	0.82650	ATG	FAM120C	-	NULL	ENSG00000184083		0.537	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	-	0	31	0	C	NM_017848		54143073	-1	tier1	-	no_errors	ENST00000375180	ensembl	human	known	74_37	missense	38.46	32	20	SNP	1.000	T	T	54143073	C	T	54143073	3	4	137	1	0	0	0	0	1	0	0	0	5437	710	25	3	1101	3	FAM120C	23	54143073	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	567944	54143073	101127487	236	35154											
KLF8	11279	genome.wustl.edu	37	chrX	56295889	56295889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaattgagagtggatcctCagccttgcagagtctgcagg	10	10	12	9	0	2	2	1	1	1	2	3	4	3	3	2	2	4	2	2	2	2	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:56295889C>T	ENST00000468660.1	+	4	1013	c.725C>T	c.(724-726)tCa>tTa	p.S242L	KLF8_ENST00000374928.3_Missense_Mutation_p.S242L	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	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)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						AGTGGATCCTCAGCCTTGCAG	0.458																																																	0													145	114	124					X																	56295889		2203	4300	6503	SO:0001583	missense	0			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.725C>T	X.37:g.56295889C>T	ENSP00000417303:p.Ser242Leu		B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S242L	ENST00000468660.1	37	c.725	CCDS14373.1	X	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960178	0.53400	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T	0.06849	3.25	4.13	3.26	0.37387	.	0.234982	0.29100	N	0.013148	T	0.09512	0.0234	L	0.56769	1.78	0.32442	N	0.546637	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.0	T	0.03112	-1.1071	10	0.72032	D	0.01	.	7.5902	0.28017	0.0:0.8707:0.0:0.1293	.	242;242	E7EQQ8;O95600	.;KLF8_HUMAN	L	242	ENSP00000417303:S242L	ENSP00000364063:S242L	S	+	2	0	KLF8	56312614	0.255000	0.24002	0.746000	0.31095	0.944000	0.59088	2.894000	0.48640	0.847000	0.35167	0.600000	0.82982	TCA	KLF8	-	NULL	ENSG00000102349		0.458	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF8	HGNC	protein_coding	OTTHUMT00000056887.2	-	0	73	0	C	NM_007250		56295889	1	tier1	-	no_errors	ENST00000468660	ensembl	human	known	74_37	missense	22.22	56	16	SNP	0.998	T	T	56295889	C	T	56295889	3	4	137	1	0	0	0	0	1	0	0	0	8379	838	29	3	739	3	KLF8	23	56295889	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	2152816	56295889	98974671	237	35155											
NOX1	27035	genome.wustl.edu	37	chrX	100105308	100105308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattaacaaagatatactgcCccacttccatgctgaagcca	15	9	5	12	0	0	2	0	1	0	1	1	2	1	2	4	0	5	1	4	0	6	4	rs372154041		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:100105308C>T	ENST00000372966.3	-	9	1170	c.965G>A	c.(964-966)gGg>gAg	p.G322E	NOX1_ENST00000372960.4_Missense_Mutation_p.G285E|NOX1_ENST00000217885.5_Missense_Mutation_p.G322E|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	322	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GATATACTGCCCCACTTCCAT	0.433																																																	0													52	46	48					X																	100105308		2203	4300	6503	SO:0001583	missense	0			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.965G>A	X.37:g.100105308C>T	ENSP00000362057:p.Gly322Glu		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.G322E	ENST00000372966.3	37	c.965	CCDS14474.1	X	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358406	0.61403	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960;ENST00000372957	T;T;T	0.75154	-0.91;-0.91;-0.91	3.87	3.87	0.44632	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90535	0.7034	H	0.97564	4.03	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	0.93738	0.7047	10	0.87932	D	0	-8.7647	14.1697	0.65500	0.0:1.0:0.0:0.0	.	285;322;322	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	E	322;322;285;11	ENSP00000362057:G322E;ENSP00000217885:G322E;ENSP00000362051:G285E	ENSP00000217885:G322E	G	-	2	0	NOX1	99991964	1.000000	0.71417	0.981000	0.43875	0.770000	0.43624	5.108000	0.64609	1.767000	0.52121	0.422000	0.28245	GGG	NOX1	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000007952		0.433	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX1	HGNC	protein_coding	OTTHUMT00000057495.1	-	0	40	0	C	NM_007052		100105308	-1	tier1	-	no_errors	ENST00000372966	ensembl	human	known	74_37	missense	27.91	31	12	SNP	1.000	T	T	100105308	C	T	100105308	3	4	137	1	0	0	0	0	1	0	0	0	10595	623	22	3	749	3	NOX1	23	100105308	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	43809419	100105308	55165252	238	35156											
GPR112	139378	genome.wustl.edu	37	chrX	135432293	135432293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaccacactctatctgttgGtgccatgcctctgcctagct	6	13	8	14	0	3	1	0	1	3	0	3	1	3	1	4	1	4	2	4	1	2	3	rs150281542		TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:135432293G>T	ENST00000394143.1	+	6	6719	c.6428G>T	c.(6427-6429)gGt>gTt	p.G2143V	GPR112_ENST00000370652.1_Missense_Mutation_p.G2143V|GPR112_ENST00000412101.1_Missense_Mutation_p.G1938V|GPR112_ENST00000287534.4_Missense_Mutation_p.G2080V|GPR112_ENST00000394141.1_Missense_Mutation_p.G1938V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2143					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)					CTATCTGTTGGTGCCATGCCT	0.453													g|||	2	0.000529801	8e-04	0.0014	3775	,	,		17100	0		0	False		,,,				2504	0																0									VAL/GLY	2,3833		0,2,1630,571	164	119	134		6428	2.5	0	X	dbSNP_134	134	0,6728		0,0,2428,1872	no	missense	GPR112	NM_153834.3	109	0,2,4058,2443	TT,TG,GG,G		0.0,0.0522,0.0189	possibly-damaging	2143/3081	135432293	2,10561	2203	4300	6503	SO:0001583	missense	0			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.6428G>T	X.37:g.135432293G>T	ENSP00000377699:p.Gly2143Val		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.G2143V	ENST00000394143.1	37	c.6428	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	g	9.837	1.189996	0.21954	5.22E-4	0.0	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.53640	1.25;1.25;1.2;0.61;1.2	3.52	2.55	0.30701	.	.	.	.	.	T	0.45935	0.1367	L	0.27053	0.805	0.09310	N	1	D;P;D	0.67145	0.996;0.944;0.964	P;P;P	0.62740	0.906;0.624;0.706	T	0.25467	-1.0131	9	0.17369	T	0.5	.	7.3118	0.26479	0.0:0.2687:0.7313:0.0	.	2080;1938;2143	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	V	2143;2143;1938;2080;1938	ENSP00000377699:G2143V;ENSP00000359686:G2143V;ENSP00000416526:G1938V;ENSP00000287534:G2080V;ENSP00000377697:G1938V	ENSP00000287534:G2080V	G	+	2	0	GPR112	135259959	0.038000	0.19896	0.005000	0.12908	0.090000	0.18270	1.289000	0.33307	1.759000	0.51996	0.509000	0.49947	GGT	GPR112	-	NULL	ENSG00000156920		0.453	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	-	0	48	0	G			135432293	1	tier1	rs150281542	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.009	T	T	135432293	G	T	135432293	3	4	137	1	0	0	0	0	1	0	0	0	6655	1261	44	3	6438	3	GPR112	23	135432293	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	35326985	135432293	19838267	239	35157											
FGF13	2258	genome.wustl.edu	37	chrX	137717719	137717719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagacccagataccaccctCggcctgactgctgctgacgg	8	7	10	16	2	1	4	1	2	0	2	2	4	1	4	4	2	3	2	4	2	1	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:137717719C>T	ENST00000315930.6	-	4	1161	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	FGF13_ENST00000305414.4_Missense_Mutation_p.R114Q|FGF13_ENST00000370603.3_Missense_Mutation_p.R177Q|FGF13_ENST00000441825.2_Missense_Mutation_p.R148Q|FGF13_ENST00000541469.1_Missense_Mutation_p.R121Q	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	167	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ATACCACCCTCGGCCTGACTG	0.418																																																	0													177	149	159					X																	137717719		2203	4300	6503	SO:0001583	missense	0			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.500G>A	X.37:g.137717719C>T	ENSP00000322390:p.Arg167Gln		B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam	p.R177Q	ENST00000315930.6	37	c.530	CCDS14665.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.776286	0.96922	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92120	0.7502	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.994	D	0.92617	0.6104	10	0.87932	D	0	.	18.5888	0.91200	0.0:1.0:0.0:0.0	.	121;177;114;167	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	Q	167;114;148;177;121;177;183	ENSP00000322390:R167Q;ENSP00000303391:R114Q;ENSP00000409276:R148Q;ENSP00000359635:R177Q;ENSP00000437903:R121Q;ENSP00000396198:R177Q;ENSP00000406916:R183Q	ENSP00000303391:R114Q	R	-	2	0	FGF13	137545385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.618000	0.88619	0.600000	0.82982	CGA	FGF13	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000129682		0.418	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF13	HGNC	protein_coding	OTTHUMT00000058534.2	-	0	60	0	C	NM_004114		137717719	-1	tier1	-	no_errors	ENST00000370603	ensembl	human	known	74_37	missense	18.75	78	18	SNP	1.000	T	T	137717719	C	T	137717719	3	4	137	1	0	0	0	0	1	0	0	0	5864	884	31	1	245	1	FGF13	23	137717719	Missense_Mutation	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	2285426	137717719	17552841	240	35158											
MAGEC3	139081	genome.wustl.edu	37	chrX	140985178	140985178	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgaccagggcatgcccaAgaactgtctcctgattctta	10	11	9	11	0	2	4	0	3	2	1	3	4	2	4	3	1	2	1	3	1	3	2			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:140985178A>T	ENST00000298296.1	+	7	1634	c.1634A>T	c.(1633-1635)aAg>aTg	p.K545M	MAGEC3_ENST00000536088.1_Missense_Mutation_p.K247M|MAGEC3_ENST00000443323.2_Missense_Mutation_p.K167M|MAGEC3_ENST00000409007.1_Missense_Mutation_p.K247M|MAGEC3_ENST00000544766.1_Missense_Mutation_p.K247M	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	545	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGCATGCCCAAGAACTGTCTC	0.493																																																	0													138	123	128					X																	140985178		2203	4300	6503	SO:0001583	missense	0			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.1634A>T	X.37:g.140985178A>T	ENSP00000298296:p.Lys545Met		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.K545M	ENST00000298296.1	37	c.1634	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	a	11.43	1.635055	0.29068	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	1.25	0.0225	0.14133	.	.	.	.	.	T	0.19565	0.0470	M	0.80183	2.485	0.09310	N	1	D;D	0.76494	0.969;0.999	P;D	0.87578	0.881;0.998	T	0.10590	-1.0623	9	0.87932	D	0	.	2.8813	0.05648	0.683:0.0:0.317:0.0	.	545;247	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	M	545;247;167;247;247	ENSP00000298296:K545M;ENSP00000441107:K247M;ENSP00000438254:K167M;ENSP00000440444:K247M;ENSP00000386566:K247M	ENSP00000298296:K545M	K	+	2	0	MAGEC3	140812844	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.364000	0.20325	-0.054000	0.13266	0.235000	0.17854	AAG	MAGEC3	-	pfam_MAGE,pfscan_MAGE	ENSG00000165509		0.493	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0	53	0	A	NM_138702		140985178	1	tier1	-	no_errors	ENST00000298296	ensembl	human	known	74_37	missense	28.38	53	21	SNP	0.000	T	T	140985178	A	T	140985178	3	4	137	1	0	0	0	0	1	0	0	0	9220	72	3	5	1889	5	MAGEC3	23	140985178	Missense_Mutation	SNP	A	TCGA-Q9-A6FU-01A-11D-A31U-09	3267459	140985178	14285382	241	35159											
FLNA	2316	genome.wustl.edu	37	chrX	153581174	153581174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggcaaacttgatgttgatGatgtagttgcctggctctgt	7	15	12	7	1	1	3	0	3	1	0	2	3	1	3	1	2	2	5	1	2	2	4			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:153581174G>A	ENST00000369850.3	-	39	6581	c.6345C>T	c.(6343-6345)atC>atT	p.I2115I	FLNA_ENST00000344736.4_Silent_p.I2075I|FLNA_ENST00000369856.3_Silent_p.I248I|FLNA_ENST00000422373.1_Silent_p.I2107I|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Silent_p.I2107I	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2115					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)					TGATGTTGATGATGTAGTTGC	0.607																																																	0													111	112	112					X																	153581174		2161	4236	6397	SO:0001819	synonymous_variant	0			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.6345C>T	X.37:g.153581174G>A			E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.I2115	ENST00000369850.3	37	c.6345	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.607	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	-	0	23	0	G			153581174	-1	tier1	-	no_errors	ENST00000369850	ensembl	human	known	74_37	silent	44.44	20	16	SNP	0.996	A	A	153581174	G	A	153581174	2	1	137	1	0	0	0	0	0	0	0	1	5955	1280	45	3		3	FLNA	23	153581174	Silent	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	12595996	153581174	1689386	242	35160											
PLXNA3	55558	genome.wustl.edu	37	chrX	153695951	153695951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actacactgtgctgataggaGgccagccgtgttcgctcact	8	10	11	12	2	1	1	1	1	0	0	2	2	1	2	2	2	3	3	2	2	2	3			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:153695951G>T	ENST00000369682.3	+	20	3680	c.3505G>T	c.(3505-3507)Ggc>Tgc	p.G1169C		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1169	IPT/TIG 4.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGATAGGAGGCCAGCCGTG	0.632																																																	0													29	24	26					X																	153695951		2193	4294	6487	SO:0001583	missense	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3505G>T	X.37:g.153695951G>T	ENSP00000358696:p.Gly1169Cys		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G1169C	ENST00000369682.3	37	c.3505	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670828	0.47781	.	.	ENSG00000130827	ENST00000369682	T	0.80304	-1.36	5.37	4.49	0.54785	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.353879	0.30134	N	0.010331	D	0.83344	0.5234	L	0.42245	1.32	0.45837	D	0.998707	P	0.51537	0.946	P	0.61275	0.886	D	0.83996	0.0340	10	0.59425	D	0.04	.	11.7395	0.51784	0.0898:0.0:0.9102:0.0	.	1169	P51805	PLXA3_HUMAN	C	1169	ENSP00000358696:G1169C	ENSP00000358696:G1169C	G	+	1	0	PLXNA3	153349145	1.000000	0.71417	0.813000	0.32504	0.217000	0.24651	6.507000	0.73717	2.385000	0.81259	0.529000	0.55759	GGC	PLXNA3	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000130827		0.632	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	-	0	35	0	G	NM_017514		153695951	1	tier1	-	no_errors	ENST00000369682	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	153695951	G	T	153695951	3	4	137	1	0	0	0	0	1	0	0	0	12160	1000	35	3	3579	3	PLXNA3	23	153695951	Missense_Mutation	SNP	G	TCGA-Q9-A6FU-01A-11D-A31U-09	114777	153695951	1574609	243	35161											
PLXNA3	55558	genome.wustl.edu	37	chrX	153698330	153698330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgctccagagagcttgctCcgcacggccagcagccctga	7	7	11	16	2	1	2	0	1	1	1	3	3	3	2	4	1	5	5	4	1	0	1			TCGA-Q9-A6FU-01A-11D-A31U-09	TCGA-Q9-A6FU-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e76b7ff1-70d7-46fb-82ad-e5b852bf6d83	50f9a9ff-a202-4715-b353-26da91902aca	g.chrX:153698330C>T	ENST00000369682.3	+	29	4981	c.4806C>T	c.(4804-4806)ctC>ctT	p.L1602L	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1602					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGAGCTTGCTCCGCACGGCCA	0.622																																																	0													67	57	60					X																	153698330		2203	4300	6503	SO:0001819	synonymous_variant	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4806C>T	X.37:g.153698330C>T			Q5HY36	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L1602	ENST00000369682.3	37	c.4806	CCDS14752.1	X																																																																																			PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000130827		0.622	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	-	0	19	0	C	NM_017514		153698330	1	tier1	-	no_errors	ENST00000369682	ensembl	human	known	74_37	silent	47.37	10	9	SNP	0.944	T	T	153698330	C	T	153698330	2	4	137	1	0	0	0	0	0	0	0	1	12160	842	30	3		3	PLXNA3	23	153698330	Silent	SNP	C	TCGA-Q9-A6FU-01A-11D-A31U-09	2379	153698330	1572230	244	35162											
ZBTB48	3104	genome.wustl.edu	37	chr1	6649261	6649262	+	Frame_Shift_Del	DEL	TG	TG	-																															cagctgctgtccccgaggacTgtgacacatagcccattctg																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:6649261_6649262delTG	ENST00000377674.4	+	11	2214_2215	c.2056_2057delTG	c.(2056-2058)tgtfs	p.C686fs		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	686					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)		CCCCGAGGACTGTGACACATAG	0.604																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)												0																																										SO:0001589	frameshift_variant	0			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.2056_2057delTG	1.37:g.6649263_6649264delTG	ENSP00000366902:p.Cys686fs		Q5SY19	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.C686fs	ENST00000377674.4	37	c.2056_2057	CCDS84.1	1																																																																																			ZBTB48	-	NULL	ENSG00000204859		0.604	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB48	HGNC	protein_coding	OTTHUMT00000004193.1		0	25	0	TG	NM_005341		6649262	1	tier1		no_errors	ENST00000377674	ensembl	human	known	74_37	frame_shift_del	25.81	23	8	DEL	0.977:0.997	-	-	6649262	TG	-	6649261	7	5	138	1	0	1	0	1	0	0	0	0	17597	1580	55	0	2094	0	ZBTB48	1	6649261	Frame_Shift_Del	DEL	TG	TCGA-Q9-A6FW-01A-31D-A31U-09		6649261	242601360	1	35163											
KAZ	23254	genome.wustl.edu	37	chr1	15441059	15441059	+	Silent	SNP	C	C	T	0	0	0	1	1	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	caaaacgaagattgcggagaCgatgacccccagagcaggct	14	4	12	11	3	0	4	0	1	0	3	0	7	0	4	2	2	3	2	2	2	3	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:15441059C>T	ENST00000376030.2	+	15	2550	c.2256C>T	c.(2254-2256)gaC>gaT	p.D752D	TMEM51-AS1_ENST00000310916.3_RNA	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	752					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.D199D(1)|p.D752D(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ATTGCGGAGACGATGACCCCC	0.557																																																	2	Substitution - coding silent(2)	large_intestine(2)											63	50	55					1																	15441059		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2256C>T	1.37:g.15441059C>T			B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D752	ENST00000376030.2	37	c.2256	CCDS152.2	1																																																																																			KAZN	-	NULL	ENSG00000189337		0.557	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2		0	53	0	C	NM_001017999		15441059	1			no_errors	ENST00000376030	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.005	T	T	15441059	C	T	15441059	2	4	138	1	0	0	0	0	0	0	0	1	8015	535	19	1		1	KAZ	1	15441059	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	8791798	15441059	233809562	2	35164											
CELA3A	10136	genome.wustl.edu	37	chr1	22333904	22333904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	acaagctgcagcaggcccggCtgcccgtggtggactataag	9	6	14	12	2	0	0	0	0	0	0	0	1	0	1	2	4	4	4	2	4	3	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:22333904C>G	ENST00000290122.3	+	6	557	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	180	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCAGGCCCGGCTGCCCGTGGT	0.617																																																	0													49	50	50					1																	22333904		2197	4300	6497	SO:0001583	missense	0			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.538C>G	1.37:g.22333904C>G	ENSP00000290122:p.Leu180Val		B1AQ53|Q9BRW4	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L180V	ENST00000290122.3	37	c.538	CCDS220.1	1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519449	0.44866	.	.	ENSG00000142789	ENST00000290122	D	0.87966	-2.32	3.59	2.64	0.31445	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.87661	0.6233	L	0.31845	0.965	0.80722	D	1	D	0.57899	0.981	D	0.64687	0.928	D	0.86552	0.1835	9	0.87932	D	0	-12.687	9.7519	0.40481	0.208:0.792:0.0:0.0	.	180	P09093	CEL3A_HUMAN	V	180	ENSP00000290122:L180V	ENSP00000290122:L180V	L	+	1	2	CELA3A	22206491	0.273000	0.24181	0.993000	0.49108	0.932000	0.56968	0.866000	0.27954	0.671000	0.31185	0.400000	0.26472	CTG	CELA3A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000142789		0.617	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3A	HGNC	protein_coding	OTTHUMT00000007791.1	-	0	61	0	C	NM_005747		22333904	1	tier1	-	no_errors	ENST00000290122	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.625	G	G	22333904	C	G	22333904	3	3	138	1	0	0	0	0	1	0	0	0	3220	796	28	5	560	5	CELA3A	1	22333904	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	6892845	22333904	226916717	3	35165											
GRIK3	2899	genome.wustl.edu	37	chr1	37271877	37271877	+	Silent	SNP	C	C	T	0	0	0	1	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	ttcttcaccagcgccgatggCttgctgctcatgaaggccca	7	10	10	14	2	3	1	2	1	1	0	3	2	3	1	3	2	3	3	3	2	1	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:37271877C>T	ENST00000373091.3	-	14	2158	c.2142G>A	c.(2140-2142)aaG>aaA	p.K714K	GRIK3_ENST00000373093.4_Silent_p.K714K	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	714					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GCGCCGATGGCTTGCTGCTCA	0.602																																																	0													95	84	88					1																	37271877		2203	4300	6503	SO:0001819	synonymous_variant	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2142G>A	1.37:g.37271877C>T			A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K714	ENST00000373091.3	37	c.2142	CCDS416.1	1																																																																																			GRIK3	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000163873		0.602	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0	73	0	C	NM_000831		37271877	-1	tier1	-	no_errors	ENST00000373091	ensembl	human	known	74_37	silent	25.00	45	15	SNP	1.000	T	T	37271877	C	T	37271877	2	4	138	1	0	0	0	0	0	0	0	1	6802	796	28	3		3	GRIK3	1	37271877	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	14937973	37271877	211978744	4	35166											
MACF1	23499	genome.wustl.edu	37	chr1	39784168	39784168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagttctgggagattacCgagcctgccatggaactctc	10	9	12	10	1	2	1	0	0	2	1	3	5	2	3	3	3	4	1	3	3	3	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:39784168C>G	ENST00000372915.3	+	29	3928	c.3841C>G	c.(3841-3843)Cga>Gga	p.R1281G	MACF1_ENST00000567887.1_Missense_Mutation_p.R1313G|MACF1_ENST00000539005.1_Missense_Mutation_p.R1281G|MACF1_ENST00000361689.2_Missense_Mutation_p.R1281G|MACF1_ENST00000564288.1_Missense_Mutation_p.R1276G|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.R1281G|MACF1_ENST00000317713.7_Missense_Mutation_p.R1281G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1281					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)			GGGAGATTACCGAGCCTGCCA	0.463																																																	0													65	62	63					1																	39784168		2203	4300	6503	SO:0001583	missense	0			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.3841C>G	1.37:g.39784168C>G	ENSP00000362006:p.Arg1281Gly		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R1281G	ENST00000372915.3	37	c.3841		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.09|19.09	3.759248|3.759248	0.69763|0.69763	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	.|T;T;T;T;T;T;T	.|0.35421	.|1.31;1.31;1.31;1.31;1.31;1.65;1.65	5.97|5.97	0.605|0.605	0.17553|0.17553	.|.	.|.	.|.	.|.	.|.	T|T	0.60728|0.60728	0.2291|0.2291	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.89917	.|1.0;0.917;0.747	.|D;P;P	.|0.87578	.|0.998;0.622;0.597	T|T	0.66838|0.66838	-0.5822|-0.5822	5|9	.|0.66056	.|D	.|0.02	.|.	17.4674|17.4674	0.87637|0.87637	0.6822:0.3178:0.0:0.0|0.6822:0.3178:0.0:0.0	.|.	.|1281;1281;1246	.|F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|.;.;.	R|G	414|1281;1281;1281;1281;1281;1239;1430	.|ENSP00000439537:R1281G;ENSP00000362006:R1281G;ENSP00000354573:R1281G;ENSP00000313438:R1281G;ENSP00000444364:R1281G;ENSP00000435070:R1239G;ENSP00000437059:R1430G	.|ENSP00000313438:R1281G	P|R	+|+	2|1	0|2	MACF1|MACF1	39556755|39556755	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	1.326000|1.326000	0.33735|0.33735	-0.135000|-0.135000	0.11495|0.11495	0.655000|0.655000	0.94253|0.94253	CCG|CGA	MACF1	-	smart_Spectrin/alpha-actinin	ENSG00000127603		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	61	0	C	NM_033044		39784168	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	11.36	38	5	SNP	0.999	G	G	39784168	C	G	39784168	3	3	138	1	0	0	0	0	1	0	0	0	9180	644	23	5	3955	5	MACF1	1	39784168	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	2512291	39784168	209466453	5	35167											
PIK3R3	8503	genome.wustl.edu	37	chr1	46511680	46511680	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcaagtcctctgcttgtActcgattgatatcctcaaca	12	12	6	11	1	2	1	1	1	1	0	5	2	4	1	2	0	4	3	2	0	5	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:46511680A>G	ENST00000262741.5	-	9	1786	c.1097T>C	c.(1096-1098)gTa>gCa	p.V366A	PIK3R3_ENST00000354242.4_Missense_Mutation_p.V307A|PIK3R3_ENST00000420542.1_Missense_Mutation_p.V366A|PIK3R3_ENST00000540385.1_Missense_Mutation_p.V412A|RP4-533D7.4_ENST00000450004.1_RNA|PIK3R3_ENST00000423209.1_Missense_Mutation_p.V307A|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000340332.6_Missense_Mutation_p.V271A|PIK3R3_ENST00000372006.1_Missense_Mutation_p.V366A	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	366	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CTCTGCTTGTACTCGATTGAT	0.378																																																	0													157	148	151					1																	46511680		2203	4300	6503	SO:0001583	missense	0			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1097T>C	1.37:g.46511680A>G	ENSP00000262741:p.Val366Ala		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.V412A	ENST00000262741.5	37	c.1235	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	A	9.648	1.140747	0.21205	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	6.08	4.96	0.65561	SH2 motif (4);	0.318342	0.36591	N	0.002505	T	0.73583	0.3605	N	0.12569	0.235	0.28001	N	0.935291	B;B;B;B	0.10296	0.003;0.001;0.0;0.002	B;B;B;B	0.19946	0.01;0.012;0.004;0.027	T	0.56571	-0.7957	10	0.08837	T	0.75	-12.2193	11.6879	0.51497	0.9317:0.0:0.0683:0.0	.	412;399;307;366	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	A	366;366;366;307;271;412;307	ENSP00000361075:V366A;ENSP00000262741:V366A;ENSP00000412546:V366A;ENSP00000346188:V307A;ENSP00000342484:V271A;ENSP00000439913:V412A;ENSP00000391431:V307A	ENSP00000262741:V366A	V	-	2	0	PIK3R3	46284267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.783000	0.47766	2.333000	0.79357	0.533000	0.62120	GTA	PIK3R3	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85	ENSG00000117461		0.378	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	-	0	22	0	A	NM_003629		46511680	-1	tier1	-	no_errors	ENST00000540385	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.968	G	G	46511680	A	G	46511680	3	3	138	1	0	0	0	0	1	0	0	0	11959	391	14	4	296	4	PIK3R3	1	46511680	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	6727512	46511680	202738941	6	35168											
C1orf175	374977	genome.wustl.edu	37	chr1	55145583	55145583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatcccagaaatcatgcaagGcatctacatgcagctgagcc	13	7	9	12	0	2	2	1	1	1	1	3	3	3	2	2	1	5	4	2	1	3	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:55145583G>A	ENST00000421030.2	+	13	2531	c.2246G>A	c.(2245-2247)gGc>gAc	p.G749D	MROH7_ENST00000454855.2_Missense_Mutation_p.G267D|MROH7_ENST00000395690.2_Missense_Mutation_p.G749D|MROH7_ENST00000339553.5_Missense_Mutation_p.G749D|MROH7_ENST00000545244.1_Missense_Mutation_p.G317D|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.G749D|MROH7_ENST00000409996.1_Missense_Mutation_p.G317D	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	749						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ATCATGCAAGGCATCTACATG	0.647																																																	0													90	100	97					1																	55145583		2000	4167	6167	SO:0001583	missense	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2246G>A	1.37:g.55145583G>A	ENSP00000396622:p.Gly749Asp		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G749D	ENST00000421030.2	37	c.2246	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375688	0.42105	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	3.75	0.21	0.15231	.	0.862161	0.09554	N	0.786534	T	0.59088	0.2168	M	0.63843	1.955	0.25584	N	0.986761	D;D;P	0.61080	0.989;0.989;0.898	P;P;P	0.58928	0.848;0.776;0.572	T	0.53989	-0.8360	10	0.32370	T	0.25	-5.1365	12.4248	0.55540	0.0:0.5197:0.4803:0.0	.	749;749;317	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	D	749;317;778;749;317;267;749	ENSP00000396622:G749D;ENSP00000442333:G317D;ENSP00000343211:G749D;ENSP00000387048:G317D;ENSP00000401130:G267D;ENSP00000379044:G749D	ENSP00000343211:G749D	G	+	2	0	HEATR8	54918171	1.000000	0.71417	0.990000	0.47175	0.690000	0.40134	1.437000	0.34991	-0.187000	0.10516	0.455000	0.32223	GGC	MROH7-TTC4	-	superfamily_ARM-type_fold	ENSG00000271723		0.647	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1		0	27	0	G	NM_198547		55145583	1			no_errors	ENST00000414150	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.990	A	A	55145583	G	A	55145583	3	1	138	1	0	0	0	0	1	0	0	0	2023	1203	42	3	2288	3	C1orf175	1	55145583	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	8633903	55145583	194105038	7	35169											
FGGY	55277	genome.wustl.edu	37	chr1	60139734	60139734	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgtggtcctgtcgcaaGaggtggagtccgttcttgtg	4	13	15	9	2	1	1	0	0	1	1	4	2	3	2	3	3	1	2	3	3	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:60139734G>T	ENST00000303721.7	+	14	1615	c.1441G>T	c.(1441-1443)Gag>Tag	p.E481*	FGGY_ENST00000371212.1_Nonsense_Mutation_p.E393*|FGGY_ENST00000371218.4_Nonsense_Mutation_p.E505*|FGGY_ENST00000371210.1_Nonsense_Mutation_p.E182*	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	481					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CCTGTCGCAAGAGGTGGAGTC	0.612																																																	0													219	140	167					1																	60139734		2203	4300	6503	SO:0001587	stop_gained	0				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1441G>T	1.37:g.60139734G>T	ENSP00000305922:p.Glu481*		B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Nonsense_Mutation	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel	p.E481*	ENST00000303721.7	37	c.1441	CCDS611.2	1	.	.	.	.	.	.	.	.	.	.	G	37	6.552370	0.97658	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	.	.	.	5.55	4.64	0.57946	.	0.238654	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.9304	14.4355	0.67277	0.07:0.0:0.93:0.0	.	.	.	.	X	505;481;393;182	.	.	E	+	1	0	FGGY	59912322	1.000000	0.71417	0.995000	0.50966	0.934000	0.57294	6.422000	0.73357	1.590000	0.49995	-0.225000	0.12378	GAG	FGGY	-	pfam_Carb_kinase_FGGY_C,tigrfam_Carb_kinase_FGGY-rel	ENSG00000172456		0.612	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGGY	HGNC	protein_coding	OTTHUMT00000023210.2	-	0	98	0	G	NM_001113411		60139734	1	tier1	-	no_errors	ENST00000303721	ensembl	human	known	74_37	nonsense	17.14	87	18	SNP	1.000	T	T	60139734	G	T	60139734	4	4	138	1	0	0	0	0	0	1	0	0	5893	943	33	3	1567	3	FGGY	1	60139734	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	4994151	60139734	189110887	8	35170											
BARHL2	343472	genome.wustl.edu	37	chr1	91180220	91180221	+	Frame_Shift_Ins	INS	-	-	A																															ttgattgagctggtggtcggINSaaaaagctgtccttgctttt																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:91180220_91180221insA	ENST00000370445.4	-	2	759_760	c.718_719insT	c.(718-720)tccfs	p.S240fs		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	240					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTGGTGGTCGGAAAAAGCTGTC	0.559																																					GBM(199;3561 4100 22440)												0																																										SO:0001589	frameshift_variant	0			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.719dupT	1.37:g.91180225_91180225dupA	ENSP00000359474:p.Ser240fs		A0AVP2|Q7Z4N7	Frame_Shift_Ins	INS	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.S240fs	ENST00000370445.4	37	c.719_718	CCDS730.1	1																																																																																			BARHL2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000143032		0.559	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2		0	50	0	-			91180221	-1	tier1		no_errors	ENST00000370445	ensembl	human	known	74_37	frame_shift_ins	18.60	35	8	INS	0.998:1.000	A	A	91180221	-	A	91180220	7	5	138	1	0	1	1	0	0	0	0	0	1315	1174	41	0	452	0	BARHL2	1	91180220	Frame_Shift_Ins	INS	-	TCGA-Q9-A6FW-01A-31D-A31U-09	31040486	91180220	158070401	9	35171											
DPYD	1806	genome.wustl.edu	37	chr1	98164964	98164964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtcagagtaccccaatCgagccaaaaaggaagcacaa	17	5	9	10	1	1	2	1	1	0	1	2	4	1	3	3	1	3	2	3	1	6	1	rs376073289		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:98164964C>A	ENST00000370192.3	-	6	723	c.623G>T	c.(622-624)cGa>cTa	p.R208L	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	208					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GTACCCCAATCGAGCCAAAAA	0.393																																																	0													148	147	147					1																	98164964		2203	4300	6503	SO:0001583	missense	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.623G>T	1.37:g.98164964C>A	ENSP00000359211:p.Arg208Leu		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.R208L	ENST00000370192.3	37	c.623	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934398	0.92458	.	.	ENSG00000188641	ENST00000370192	D	0.82255	-1.59	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.87958	0.6309	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88710	0.3222	10	0.87932	D	0	-9.6467	19.4065	0.94649	0.0:1.0:0.0:0.0	.	208	Q12882	DPYD_HUMAN	L	208	ENSP00000359211:R208L	ENSP00000359211:R208L	R	-	2	0	DPYD	97937552	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.454000	0.80714	2.595000	0.87683	0.591000	0.81541	CGA	DPYD	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase	ENSG00000188641		0.393	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	-	0	26	0	C	NM_000110		98164964	-1	tier1	-	no_errors	ENST00000370192	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	A	A	98164964	C	A	98164964	3	1	138	1	0	0	0	0	1	0	0	0	4759	884	31	2	2526	2	DPYD	1	98164964	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	6984744	98164964	151085657	10	35172											
CHIA	27159	genome.wustl.edu	37	chr1	111862019	111862019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatctggatgacttcactgGcactttctgcaaccagggca	9	11	10	11	0	3	2	1	2	2	0	3	3	3	3	1	3	2	3	1	3	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:111862019G>A	ENST00000369740.1	+	11	1209	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	CHIA_ENST00000430615.1_Missense_Mutation_p.G261D|CHIA_ENST00000451398.2_Missense_Mutation_p.G208D|CHIA_ENST00000343320.6_Missense_Mutation_p.G369D|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Missense_Mutation_p.G208D|CHIA_ENST00000483391.1_Missense_Mutation_p.G208D	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	369					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)		GACTTCACTGGCACTTTCTGC	0.512																																																	0													94	85	88					1																	111862019		2203	4300	6503	SO:0001583	missense	0			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.1106G>A	1.37:g.111862019G>A	ENSP00000358755:p.Gly369Asp		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.G369D	ENST00000369740.1	37	c.1106	CCDS41368.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074285	0.76415	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39	5.18	3.32	0.38043	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	U	0.000007	T	0.15219	0.0367	M	0.85099	2.735	0.53688	D	0.999974	D	0.76494	0.999	D	0.72075	0.976	T	0.00865	-1.1535	10	0.87932	D	0	-25.7668	9.7132	0.40258	0.1704:0.0:0.8296:0.0	.	369	Q9BZP6	CHIA_HUMAN	D	313;208;369;369;208;208;208;261	ENSP00000387671:G313D;ENSP00000436946:G208D;ENSP00000358755:G369D;ENSP00000341828:G369D;ENSP00000390476:G208D;ENSP00000338970:G208D;ENSP00000433309:G208D;ENSP00000391132:G261D	ENSP00000341828:G369D	G	+	2	0	CHIA	111663542	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.079000	0.64431	0.686000	0.31488	0.655000	0.94253	GGC	CHIA	-	superfamily_Glycoside_hydrolase_SF	ENSG00000134216		0.512	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIA	HGNC	protein_coding	OTTHUMT00000030710.1		0	34	0	G			111862019	1			no_errors	ENST00000343320	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	A	A	111862019	G	A	111862019	3	1	138	1	0	0	0	0	1	0	0	0	3349	1203	42	3	1144	3	CHIA	1	111862019	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	13697055	111862019	137388602	11	35173											
KCND3	3752	genome.wustl.edu	37	chr1	112525097	112525097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacacctcggggtcccggtcGaagaagtactccttggtgtc	8	9	12	12	3	0	1	0	0	0	1	5	2	2	1	3	4	2	1	3	4	4	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:112525097G>A	ENST00000315987.2	-	2	731	c.252C>T	c.(250-252)ttC>ttT	p.F84F	KCND3_ENST00000369697.1_Silent_p.F84F|KCND3_ENST00000302127.4_Silent_p.F84F	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	84					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.F84F(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGTCCCGGTCGAAGAAGTACT	0.622																																																	1	Substitution - coding silent(1)	breast(1)											125	113	117					1																	112525097		2203	4300	6503	SO:0001819	synonymous_variant	0			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.252C>T	1.37:g.112525097G>A			O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.F84	ENST00000315987.2	37	c.252	CCDS843.1	1																																																																																			KCND3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	ENSG00000171385		0.622	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1		0	32	0	G	NM_172198		112525097	-1			no_errors	ENST00000315987	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.747	A	A	112525097	G	A	112525097	2	1	138	1	0	0	0	0	0	0	0	1	8047	1049	37	1		1	KCND3	1	112525097	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	663078	112525097	136725524	12	35174											
HIPK1	204851	genome.wustl.edu	37	chr1	114516033	114516034	+	Frame_Shift_Del	DEL	CA	CA	-																															cccctgctcagtaccaacacCagtttgccacccaatcctac																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:114516033_114516034delCA	ENST00000369558.1	+	16	3764_3765	c.3532_3533delCA	c.(3532-3534)cagfs	p.Q1178fs	HIPK1_ENST00000426820.2_Frame_Shift_Del_p.Q1178fs|HIPK1_ENST00000369553.1_Frame_Shift_Del_p.Q784fs|HIPK1_ENST00000340480.4_Frame_Shift_Del_p.Q804fs|HIPK1_ENST00000406344.1_Frame_Shift_Del_p.Q784fs|HIPK1_ENST00000369561.4_Frame_Shift_Del_p.Q1144fs|HIPK1_ENST00000369554.2_Frame_Shift_Del_p.Q1133fs|HIPK1_ENST00000369555.2_Frame_Shift_Del_p.Q1133fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1178					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)		GTACCAACACCAGTTTGCCACC	0.54																																																	0																																										SO:0001589	frameshift_variant	0			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.3532_3533delCA	1.37:g.114516033_114516034delCA	ENSP00000358571:p.Gln1178fs		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q1178fs	ENST00000369558.1	37	c.3532_3533	CCDS867.1	1																																																																																			HIPK1	-	NULL	ENSG00000163349		0.54	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1		0	27	0	CA	NM_198268		114516034	1	tier1		no_errors	ENST00000369558	ensembl	human	known	74_37	frame_shift_del	30.00	14	6	DEL	1.000:1.000	-	-	114516034	CA	-	114516033	7	5	138	1	0	1	0	1	0	0	0	0	7143	595	21	0	3692	0	HIPK1	1	114516033	Frame_Shift_Del	DEL	CA	TCGA-Q9-A6FW-01A-31D-A31U-09	1990936	114516033	134734588	13	35175											
WDR3	10885	genome.wustl.edu	37	chr1	118499808	118499808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttatatgccggtgcctcttCttcctccttaggtaacatcc	6	15	6	14	1	2	0	0	0	2	0	5	0	5	0	5	2	3	1	5	2	4	6			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:118499808C>G	ENST00000349139.5	+	25	2618	c.2571C>G	c.(2569-2571)ttC>ttG	p.F857L	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	857						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GGTGCCTCTTCTTCCTCCTTA	0.413																																																	0													221	211	214					1																	118499808		2203	4300	6503	SO:0001583	missense	0			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2571C>G	1.37:g.118499808C>G	ENSP00000308179:p.Phe857Leu			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.F857L	ENST00000349139.5	37	c.2571	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	C	5.737	0.320449	0.10845	.	.	ENSG00000065183	ENST00000349139	T	0.54866	0.55	5.8	3.92	0.45320	.	0.091464	0.85682	D	0.000000	T	0.15262	0.0368	L	0.33668	1.02	0.80722	D	1	B	0.14805	0.011	B	0.16289	0.015	T	0.13072	-1.0523	10	0.07813	T	0.8	-18.0311	5.8075	0.18448	0.0:0.6356:0.14:0.2244	.	857	Q9UNX4	WDR3_HUMAN	L	857	ENSP00000308179:F857L	ENSP00000308179:F857L	F	+	3	2	WDR3	118301331	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.577000	0.46042	0.777000	0.33496	-0.192000	0.12808	TTC	WDR3	-	pfam_SSU_processome_Utp12	ENSG00000065183		0.413	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2		0	39	0	C	NM_006784		118499808	1			no_errors	ENST00000349139	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	G	G	118499808	C	G	118499808	3	3	138	1	0	0	0	0	1	0	0	0	17334	912	32	5	2665	5	WDR3	1	118499808	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	3983775	118499808	130750813	14	35176											
ANKRD35	148741	genome.wustl.edu	37	chr1	145562600	145562600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgggggtccttgtcccCgtgtagggagccaggcacct	4	9	16	12	2	0	0	0	0	0	0	2	1	2	1	5	4	2	3	5	4	1	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:145562600C>T	ENST00000355594.4	+	10	2375	c.2288C>T	c.(2287-2289)cCg>cTg	p.P763L		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	763										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)					TCCTTGTCCCCGTGTAGGGAG	0.657																																					Melanoma(9;127 754 22988 51047)												0													9	11	10					1																	145562600		2194	4288	6482	SO:0001583	missense	0			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.2288C>T	1.37:g.145562600C>T	ENSP00000347802:p.Pro763Leu		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P763L	ENST00000355594.4	37	c.2288	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	C	0.957	-0.704535	0.03255	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.54071	0.59	4.64	-2.52	0.06346	.	0.863537	0.09890	N	0.742541	T	0.17831	0.0428	L	0.51422	1.61	0.09310	N	0.999998	B	0.11235	0.004	B	0.04013	0.001	T	0.22871	-1.0204	10	0.42905	T	0.14	-0.3837	1.076	0.01632	0.4169:0.255:0.148:0.1801	.	763	Q8N283	ANR35_HUMAN	L	672;763	ENSP00000347802:P763L	ENSP00000347802:P763L	P	+	2	0	ANKRD35	144273957	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.975000	0.01498	-0.228000	0.09869	0.655000	0.94253	CCG	ANKRD35	-	NULL	ENSG00000198483		0.657	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	HGNC	protein_coding	OTTHUMT00000038515.1	-	0	37	0	C	NM_144698		145562600	1	tier1	-	no_errors	ENST00000355594	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.000	T	T	145562600	C	T	145562600	3	4	138	1	0	0	0	0	1	0	0	0	664	652	23	1	2326	1	ANKRD35	1	145562600	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	27062792	145562600	103688021	15	35177											
BCL9	607	genome.wustl.edu	37	chr1	147091476	147091476	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gacatgatggtccatcagcaCgggcctcggggagtggtccg	7	7	16	11	3	1	1	1	1	0	0	4	3	3	2	3	5	1	1	3	5	0	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:147091476C>T	ENST00000234739.3	+	8	2255	c.1515C>T	c.(1513-1515)caC>caT	p.H505H		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	505	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCCATCAGCACGGGCCTCGGG	0.567			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													69	78	75					1																	147091476		2203	4300	6503	SO:0001819	synonymous_variant	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1515C>T	1.37:g.147091476C>T			Q5T489	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.H505	ENST00000234739.3	37	c.1515	CCDS30833.1	1																																																																																			BCL9	-	NULL	ENSG00000116128		0.567	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	-	0	28	0	C	NM_004326		147091476	1	tier1	-	no_errors	ENST00000234739	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.054	T	T	147091476	C	T	147091476	2	4	138	1	0	0	0	0	0	0	0	1	1382	535	19	1		1	BCL9	1	147091476	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1528876	147091476	102159145	16	35178											
LCE3A	353142	genome.wustl.edu	37	chr1	152595447	152595447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgactcaggcagcagctgcGctcggagctgggcccacagc	7	5	15	14	2	1	1	1	1	0	0	2	2	1	2	1	3	5	5	1	3	0	0	rs375349290		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:152595447G>A	ENST00000335674.1	-	1	132	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	45					keratinization (GO:0031424)					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCAGCTGCGCTCGGAGCTG	0.657																																																	0													47	50	49					1																	152595447		2203	4300	6503	SO:0001583	missense	0				CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"Late cornified envelopes"	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.133C>T	1.37:g.152595447G>A	ENSP00000335006:p.Arg45Cys			Missense_Mutation	SNP	NULL	p.R45C	ENST00000335674.1	37	c.133	CCDS1017.1	1	.	.	.	.	.	.	.	.	.	.	C	8.887	0.953125	0.18431	.	.	ENSG00000185962	ENST00000335674	T	0.03553	3.89	3.61	1.65	0.23941	.	.	.	.	.	T	0.00936	0.0031	.	.	.	0.09310	N	1	B	0.23058	0.079	B	0.10450	0.005	T	0.48031	-0.9070	8	0.56958	D	0.05	.	4.2341	0.10616	0.0:0.5864:0.1897:0.2239	.	45	Q5TA76	LCE3A_HUMAN	C	45	ENSP00000335006:R45C	ENSP00000335006:R45C	R	-	1	0	LCE3A	150862071	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.720000	0.04969	0.014000	0.14944	-0.786000	0.03341	CGC	LCE3A	-	NULL	ENSG00000185962		0.657	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE3A	HGNC	protein_coding	OTTHUMT00000034517.2	-	0	71	0	G	NM_178431		152595447	-1	tier1	-	no_errors	ENST00000335674	ensembl	human	known	74_37	missense	26.32	42	15	SNP	0.000	A	A	152595447	G	A	152595447	3	1	138	1	0	0	0	0	1	0	0	0	8697	1087	38	1	139	1	LCE3A	1	152595447	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	5503971	152595447	96655174	17	35179											
TTC24	164118	genome.wustl.edu	37	chr1	156551817	156551817	+	Frame_Shift_Del	DEL	A	A	-																															aagttgtgcaggtgctggagAaaagccggaggcttgccgag																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:156551817delA	ENST00000368237.3	+	1	661	c.661delA	c.(661-663)aaafs	p.K221fs	TTC24_ENST00000368236.3_Frame_Shift_Del_p.K221fs			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	221										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)					GGTGCTGGAGAAAAGCCGGAG	0.647																																																	0													7	8	8					1																	156551817		689	1587	2276	SO:0001589	frameshift_variant	0				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.661delA	1.37:g.156551817delA	ENSP00000357220:p.Lys221fs		Q5T3H7	Frame_Shift_Del	DEL	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S222fs	ENST00000368237.3	37	c.661	CCDS53379.1	1																																																																																			TTC24	-	pfscan_TPR-contain_dom	ENSG00000187862		0.647	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC24	HGNC	protein_coding	OTTHUMT00000158547.1		0	63	0	A	XM_089384		156551817	1	tier1		no_errors	ENST00000368236	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-	-	156551817	A	-	156551817	7	5	138	1	0	1	0	1	0	0	0	0	16741	247	9	0	663	0	TTC24	1	156551817	Frame_Shift_Del	DEL	A	TCGA-Q9-A6FW-01A-31D-A31U-09	3956370	156551817	92698804	18	35180											
BCAN	63827	genome.wustl.edu	37	chr1	156617318	156617318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggtcgtctttctctaccGagagggctctgcccgctatg	5	11	13	12	3	3	1	0	0	3	1	5	2	3	1	2	3	2	2	2	3	2	3	rs372404921		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:156617318G>A	ENST00000329117.5	+	4	821	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	RP11-284F21.10_ENST00000605886.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R162Q|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	162	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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)					TTTCTCTACCGAGAGGGCTCT	0.652																																																	0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	46	48	48		485,485	4.3	1	1		48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BCAN	NM_021948.4,NM_198427.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	162/912,162/672	156617318	1,13005	2203	4300	6503	SO:0001583	missense	0			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.485G>A	1.37:g.156617318G>A	ENSP00000331210:p.Arg162Gln		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom	p.R162Q	ENST00000329117.5	37	c.485	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.186459	0.94885	0.0	1.16E-4	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	4.26	4.26	0.50523	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.53938	D	0.000060	T	0.16727	0.0402	L	0.39898	1.24	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.01648	-1.1304	10	0.87932	D	0	-13.6486	15.4026	0.74852	0.0:0.0:1.0:0.0	.	162;162	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	Q	162;162;60;162	ENSP00000331210:R162Q;ENSP00000389898:R162Q;ENSP00000401709:R60Q;ENSP00000354925:R162Q	ENSP00000331210:R162Q	R	+	2	0	BCAN	154883942	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.555000	0.98123	2.187000	0.69744	0.442000	0.29010	CGA	BCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000132692		0.652	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	-	0	52	0	G	NM_021948		156617318	1	tier1	-	no_errors	ENST00000329117	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	A	A	156617318	G	A	156617318	3	1	138	1	0	0	0	0	1	0	0	0	1346	1058	37	1	495	1	BCAN	1	156617318	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	65501	156617318	92633303	19	35181											
ETV3L	440695	genome.wustl.edu	37	chr1	157067666	157067666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccttgagcactcacggtagaCgctgctgctgctccccttct	5	11	9	16	2	2	2	1	1	1	1	3	2	3	2	3	1	4	6	3	1	1	3	rs202076672		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:157067666C>T	ENST00000454449.2	-	4	885	c.601G>A	c.(601-603)Gtc>Atc	p.V201I		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	201					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V201I(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TCACGGTAGACGCTGCTGCTG	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		17793	0		0	False		,,,				2504	0																3	Substitution - Missense(3)	prostate(2)|endometrium(1)						C	ILE/VAL	0,4406		0,0,2203	104	106	105		601	-4.1	0	1		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ETV3L	NM_001004341.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	201/362	157067666	2,13004	2203	4300	6503	SO:0001583	missense	0			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.601G>A	1.37:g.157067666C>T	ENSP00000430271:p.Val201Ile			Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.V201I	ENST00000454449.2	37	c.601	CCDS30893.1	1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.576990	0.00887	0.0	2.33E-4	ENSG00000253831	ENST00000454449	T	0.08896	3.04	3.16	-4.05	0.03998	.	.	.	.	.	T	0.00875	0.0029	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48269	-0.9050	9	0.09590	T	0.72	.	5.5942	0.17317	0.0:0.5051:0.1466:0.3483	.	201	Q6ZN32	ETV3L_HUMAN	I	201	ENSP00000430271:V201I	ENSP00000430271:V201I	V	-	1	0	ETV3L	155334290	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.754000	0.01816	-0.971000	0.03564	-1.528000	0.00924	GTC	ETV3L	-	NULL	ENSG00000253831		0.632	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3L	HGNC	protein_coding	OTTHUMT00000099024.2		0	24	0	C	NM_001004341		157067666	-1			no_errors	ENST00000454449	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.000	T	T	157067666	C	T	157067666	3	4	138	1	0	0	0	0	1	0	0	0	5296	536	19	1	492	1	ETV3L	1	157067666	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	450348	157067666	92182955	20	35182											
SPTA1	6708	genome.wustl.edu	37	chr1	158609665	158609665	+	Missense_Mutation	SNP	A	A	G	1	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	tccgggtgcaattacctctgAgagccagaactcaaagtccc	11	8	9	13	1	2	2	1	1	1	2	4	3	4	2	4	1	4	1	4	1	4	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:158609665A>G	ENST00000368147.4	-	34	5050	c.4870T>C	c.(4870-4872)Tca>Cca	p.S1624P		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1624					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)					ATTACCTCTGAGAGCCAGAAC	0.433																																																	0													179	166	170					1																	158609665		1874	4115	5989	SO:0001583	missense	0			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.4870T>C	1.37:g.158609665A>G	ENSP00000357129:p.Ser1624Pro		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S1624P	ENST00000368147.4	37	c.4870	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294739	0.81025	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	5.53	5.53	0.82687	.	0.000000	0.27388	N	0.019583	T	0.56775	0.2008	M	0.78049	2.395	0.41952	D	0.990664	D	0.76494	0.999	D	0.71184	0.972	T	0.59904	-0.7366	10	0.37606	T	0.19	.	9.9489	0.41628	0.8485:0.0:0.0:0.1515	.	1624	P02549	SPTA1_HUMAN	P	1624	ENSP00000357130:S1624P;ENSP00000357129:S1624P	ENSP00000357129:S1624P	S	-	1	0	SPTA1	156876289	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.578000	0.74032	2.324000	0.78689	0.533000	0.62120	TCA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	53	0	A	NM_003126		158609665	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	24.62	49	16	SNP	1.000	G	G	158609665	A	G	158609665	3	3	138	1	0	0	0	0	1	0	0	0	15163	304	11	4	2465	4	SPTA1	1	158609665	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	1541999	158609665	90640956	21	35183											
SLAMF8	56833	genome.wustl.edu	37	chr1	159799784	159799784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgatctctctggccttcaGaagagctcctggccacgttt	6	11	11	13	2	3	2	1	0	2	2	5	3	4	2	3	3	1	2	3	3	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:159799784G>A	ENST00000289707.5	+	2	318	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	57					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTGGCCTTCAGAAGAGCTCCT	0.627																																																	0													126	134	131					1																	159799784		2203	4300	6503	SO:0001583	missense	0			AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.169G>A	1.37:g.159799784G>A	ENSP00000289707:p.Glu57Lys		Q32MC6|Q5VU15	Missense_Mutation	SNP	pfscan_Ig-like_dom	p.E57K	ENST00000289707.5	37	c.169	CCDS1188.1	1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.531174	0.45073	.	.	ENSG00000158714	ENST00000289707	T	0.20738	2.05	4.44	4.44	0.53790	.	0.550760	0.19332	N	0.116865	T	0.16514	0.0397	L	0.34521	1.04	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.02774	-1.1112	10	0.06365	T	0.9	-18.7212	12.4262	0.55548	0.0:0.0:1.0:0.0	.	57	Q9P0V8	SLAF8_HUMAN	K	57	ENSP00000289707:E57K	ENSP00000289707:E57K	E	+	1	0	SLAMF8	158066408	0.999000	0.42202	0.971000	0.41717	0.194000	0.23727	4.590000	0.61013	2.296000	0.77279	0.313000	0.20887	GAA	SLAMF8	-	NULL	ENSG00000158714		0.627	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF8	HGNC	protein_coding	OTTHUMT00000085983.1	-	0	28	0	G	NM_020125		159799784	1	tier1	-	no_errors	ENST00000289707	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.990	A	A	159799784	G	A	159799784	3	1	138	1	0	0	0	0	1	0	0	0	14415	943	33	3	175	3	SLAMF8	1	159799784	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	1190119	159799784	89450837	22	35184											
CD244	51744	genome.wustl.edu	37	chr1	160811182	160811182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accaagcataggacacattgCcatccctggagaccaagcaa	15	5	8	13	0	0	1	0	0	0	1	1	3	1	2	4	2	3	2	4	2	4	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:160811182C>T	ENST00000368033.3	-	3	570	c.488G>A	c.(487-489)gGc>gAc	p.G163D	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368032.2_Missense_Mutation_p.G158D|CD244_ENST00000322302.7_Intron|CD244_ENST00000368034.4_Missense_Mutation_p.G158D			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	163	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGACACATTGCCATCCCTGGA	0.542																																																	0													185	159	168					1																	160811182		2203	4300	6503	SO:0001583	missense	0			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.488G>A	1.37:g.160811182C>T	ENSP00000357012:p.Gly163Asp		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom	p.G163D	ENST00000368033.3	37	c.488	CCDS53399.1	1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.377993	0.01204	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000368032	T;T;T	0.21543	2.0;2.0;2.0	4.73	-6.35	0.01975	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.317030	0.05296	N	0.522042	T	0.02156	0.0067	N	0.16098	0.37	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.13407	0.009;0.004	T	0.33752	-0.9856	10	0.07325	T	0.83	-15.4049	7.878	0.29605	0.1027:0.3802:0.0:0.5172	.	163;158	Q9BZW8;Q9BZW8-2	CD244_HUMAN;.	D	158;163;158	ENSP00000357013:G158D;ENSP00000357012:G163D;ENSP00000357011:G158D	ENSP00000357011:G158D	G	-	2	0	CD244	159077806	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.371000	0.01074	-2.195000	0.00752	-1.731000	0.00696	GGC	CD244	-	pfscan_Ig-like_dom	ENSG00000122223		0.542	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	HGNC	protein_coding	OTTHUMT00000071469.1	-	0	74	0	C	NM_016382		160811182	-1	tier1	-	no_errors	ENST00000368033	ensembl	human	known	74_37	missense	19.44	58	14	SNP	0.000	T	T	160811182	C	T	160811182	3	4	138	1	0	0	0	0	1	0	0	0	2994	739	26	3	652	3	CD244	1	160811182	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1011398	160811182	88439439	23	35185											
GPR161	23432	genome.wustl.edu	37	chr1	168066003	168066003	+	Missense_Mutation	SNP	A	A	G	1	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	ccatgtaggggccccaggtgAccatgaaggcaccgaggacc	10	4	14	13	1	0	2	0	2	0	0	0	4	0	3	6	5	0	2	6	5	2	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:168066003A>G	ENST00000367838.1	-	5	1155	c.842T>C	c.(841-843)gTc>gCc	p.V281A	GPR161_ENST00000367835.1_Missense_Mutation_p.V281A|GPR161_ENST00000367836.1_Missense_Mutation_p.V149A|GPR161_ENST00000271357.5_Missense_Mutation_p.V281A|GPR161_ENST00000546300.1_Missense_Mutation_p.V167A|GPR161_ENST00000539777.1_Missense_Mutation_p.V203A|GPR161_ENST00000537209.1_Missense_Mutation_p.V301A|GPR161_ENST00000361697.2_Missense_Mutation_p.V281A	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	281					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)					GCCCCAGGTGACCATGAAGGC	0.602																																																	0													75	78	77					1																	168066003		2203	4300	6503	SO:0001583	missense	0			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.842T>C	1.37:g.168066003A>G	ENSP00000356812:p.Val281Ala		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V301A	ENST00000367838.1	37	c.902	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222863	0.58668	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.48	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.443969	0.25935	N	0.027342	T	0.22513	0.0543	L	0.51422	1.61	0.33485	D	0.588012	B;B;B;P;B;B	0.39424	0.43;0.202;0.372;0.673;0.082;0.27	B;B;B;B;B;B	0.37550	0.122;0.183;0.053;0.253;0.058;0.088	T	0.11916	-1.0568	9	0.87932	D	0	-48.8453	11.0083	0.47649	0.9261:0.0:0.0739:0.0	.	301;167;203;301;281;281	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	A	281;281;149;281;167;203;301;281	ENSP00000356812:V281A;ENSP00000271357:V281A;ENSP00000356810:V149A;ENSP00000356809:V281A;ENSP00000444348:V167A;ENSP00000437576:V203A;ENSP00000441039:V301A;ENSP00000355194:V281A	ENSP00000271357:V281A	V	-	2	0	GPR161	166332627	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.998000	0.70653	1.025000	0.39708	0.459000	0.35465	GTC	GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000143147		0.602	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	-	0	42	0	A	NM_007369		168066003	-1	tier1	-	no_errors	ENST00000537209	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	G	G	168066003	A	G	168066003	3	3	138	1	0	0	0	0	1	0	0	0	6691	275	10	4	763	4	GPR161	1	168066003	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	7254821	168066003	81184618	24	35186											
C1orf27	54953	genome.wustl.edu	37	chr1	186368089	186368089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtttttccctgtaggcaGtaaagagggatatattgaac	11	14	11	5	0	0	2	0	1	0	1	1	3	1	3	1	2	1	4	1	2	6	7			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:186368089G>A	ENST00000287859.6	+	11	1038	c.913G>A	c.(913-915)Gta>Ata	p.V305I	C1orf27_ENST00000432021.3_Missense_Mutation_p.V282I|C1orf27_ENST00000419367.3_Missense_Mutation_p.V273I|C1orf27_ENST00000367470.3_Missense_Mutation_p.V282I|AL596220.1_ENST00000598663.1_5'Flank|OCLM_ENST00000574641.1_5'Flank	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	305						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						CCTGTAGGCAGTAAAGAGGGA	0.284																																																	0													96	86	89					1																	186368089		1801	4073	5874	SO:0001583	missense	0			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.913G>A	1.37:g.186368089G>A	ENSP00000287859:p.Val305Ile		B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP	NULL	p.V305I	ENST00000287859.6	37	c.913	CCDS53448.1	1	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.024358	0.02061	.	.	ENSG00000157181	ENST00000367470;ENST00000419367;ENST00000432021;ENST00000287859	T;T;T	0.35973	1.28;1.28;1.28	4.92	-5.1	0.02911	.	0.826170	0.11199	N	0.588998	T	0.13670	0.0331	N	0.24115	0.695	0.27865	N	0.94025	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.39035	-0.9633	10	0.02654	T	1	-6.8635	2.7621	0.05310	0.4889:0.0896:0.2783:0.1432	.	273;282;305	E9PFR7;Q5SWX8-2;Q5SWX8	.;.;ODR4_HUMAN	I	282;273;305;305	ENSP00000356440:V282I;ENSP00000395084:V273I;ENSP00000287859:V305I	ENSP00000287859:V305I	V	+	1	0	C1orf27	184634712	0.906000	0.30813	0.719000	0.30619	0.583000	0.36354	0.024000	0.13555	-0.464000	0.06963	-0.345000	0.07892	GTA	C1orf27	-	NULL	ENSG00000157181		0.284	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C1orf27	HGNC	protein_coding	OTTHUMT00000086352.2	-	0	72	0	G	NM_017847		186368089	1	tier1	-	no_errors	ENST00000287859	ensembl	human	known	74_37	missense	7.32	76	6	SNP	0.497	A	A	186368089	G	A	186368089	3	1	138	1	0	0	0	0	1	0	0	0	2043	1029	36	3	951	3	C1orf27	1	186368089	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	18302086	186368089	62882532	25	35187											
CACNA1S	779	genome.wustl.edu	37	chr1	201063084	201063084	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtggaataagaagccGtaggcaatgatcttcatggc	11	10	12	8	1	2	2	1	1	1	1	3	3	3	3	2	4	1	2	2	4	5	3	rs200487405		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:201063084G>A	ENST00000362061.3	-	3	550	c.324C>T	c.(322-324)taC>taT	p.Y108Y	CACNA1S_ENST00000367338.3_Silent_p.Y108Y	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	108					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)	ATAAGAAGCCGTAGGCAATGA	0.532																																																	0								G		4,4402	8.1+/-20.4	0,4,2199	97	94	95		324	-2.2	1	1		95	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	CACNA1S	NM_000069.2		0,9,6494	AA,AG,GG		0.0581,0.0908,0.0692		108/1874	201063084	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	0			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.324C>T	1.37:g.201063084G>A			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.Y108	ENST00000362061.3	37	c.324	CCDS1407.1	1																																																																																			CACNA1S	-	pfam_Ion_trans_dom	ENSG00000081248		0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	-	0	34	0	G	NM_000069		201063084	-1	tier1	rs200487405	no_errors	ENST00000362061	ensembl	human	known	74_37	silent	13.16	33	5	SNP	0.984	A	A	201063084	G	A	201063084	2	1	138	1	0	0	0	0	0	0	0	1	2554	1140	40	1		1	CACNA1S	1	201063084	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	14694995	201063084	48187537	26	35188											
PROX1	5629	genome.wustl.edu	37	chr1	214170813	214170813	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acagtttattgaccgagctcGagccctgatcagagagcagg	11	8	12	10	2	1	3	1	2	0	1	2	6	1	3	2	1	3	3	2	1	1	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:214170813G>C	ENST00000366958.4	+	2	1543	c.935G>C	c.(934-936)cGa>cCa	p.R312P	PROX1_ENST00000435016.1_Missense_Mutation_p.R312P|PROX1_ENST00000498508.2_Missense_Mutation_p.R312P|PROX1_ENST00000261454.4_Missense_Mutation_p.R312P	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	312					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)		GACCGAGCTCGAGCCCTGATC	0.537																																																	0													80	82	82					1																	214170813		2203	4300	6503	SO:0001583	missense	0			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.935G>C	1.37:g.214170813G>C	ENSP00000355925:p.Arg312Pro		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.R312P	ENST00000366958.4	37	c.935	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	8.554	0.876243	0.17395	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.51817	0.7;0.69;0.7;0.7	5.71	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	M	0.63428	1.95	0.58432	D	0.999997	D	0.67145	0.996	D	0.64877	0.93	T	0.65520	-0.6148	10	0.42905	T	0.14	-1.7657	16.8312	0.85945	0.0:0.1285:0.8714:0.0	.	312	Q92786	PROX1_HUMAN	P	312	ENSP00000420283:R312P;ENSP00000355925:R312P;ENSP00000400694:R312P;ENSP00000261454:R312P	ENSP00000261454:R312P	R	+	2	0	PROX1	212237436	1.000000	0.71417	0.803000	0.32268	0.109000	0.19521	7.393000	0.79851	1.397000	0.46682	0.563000	0.77884	CGA	PROX1	-	NULL	ENSG00000117707		0.537	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	-	0	21	0	G	NM_002763		214170813	1	tier1	-	no_errors	ENST00000261454	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.991	C	C	214170813	G	C	214170813	3	2	138	1	0	0	0	0	1	0	0	0	12602	1058	37	5	937	5	PROX1	1	214170813	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	13107729	214170813	35079808	27	35189											
CENPF	1063	genome.wustl.edu	37	chr1	214825215	214825215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaccaggctttgcttttgGacacaaacaaacaggtgaaa	16	8	8	9	0	0	1	0	1	0	0	0	2	0	2	1	3	4	2	1	3	4	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:214825215G>A	ENST00000366955.3	+	15	8314	c.8146G>A	c.(8146-8148)Gac>Aac	p.D2716N	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2812	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)		TTTGCTTTTGGACACAAACAA	0.408																																					Colon(80;575 1284 11000 14801 43496)												0													82	88	86					1																	214825215		2203	4300	6503	SO:0001583	missense	0			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.8146G>A	1.37:g.214825215G>A	ENSP00000355922:p.Asp2716Asn		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.D2716N	ENST00000366955.3	37	c.8146	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001868	0.35320	.	.	ENSG00000117724	ENST00000366955;ENST00000391896	T	0.03212	4.01	3.67	2.72	0.32119	.	.	.	.	.	T	0.06096	0.0158	L	0.57536	1.79	0.09310	N	1	P	0.51791	0.948	P	0.46362	0.514	T	0.33214	-0.9877	9	0.33141	T	0.24	.	7.5465	0.27770	0.1336:0.0:0.8664:0.0	.	2812	P49454	CENPF_HUMAN	N	2716;115	ENSP00000355922:D2716N	ENSP00000355922:D2716N	D	+	1	0	CENPF	212891838	0.991000	0.36638	0.023000	0.16930	0.687000	0.40016	2.491000	0.45303	1.771000	0.52183	0.609000	0.83330	GAC	CENPF	-	NULL	ENSG00000117724		0.408	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	-	0	55	0	G	NM_016343		214825215	1	tier1	-	no_errors	ENST00000366955	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.004	A	A	214825215	G	A	214825215	3	1	138	1	0	0	0	0	1	0	0	0	3238	1174	41	3	8200	3	CENPF	1	214825215	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	654402	214825215	34425406	28	35190											
OR2G2	81470	genome.wustl.edu	37	chr1	247752514	247752514	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcttctacactgtggtaAcccgcatgcttaaccctctt	7	14	5	15	1	3	0	0	0	3	0	4	0	3	0	2	1	4	3	2	1	3	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr1:247752514A>C	ENST00000320065.1	+	1	853	c.853A>C	c.(853-855)Acc>Ccc	p.T285P	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACTGTGGTAACCCGCATGCT	0.433																																																	0													129	130	130					1																	247752514		2203	4300	6503	SO:0001583	missense	0			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.853A>C	1.37:g.247752514A>C	ENSP00000326349:p.Thr285Pro		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T285P	ENST00000320065.1	37	c.853	CCDS31092.1	1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240557	0.39598	.	.	ENSG00000177489	ENST00000320065	T	0.37235	1.21	4.14	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38326	U	0.001725	T	0.57814	0.2079	M	0.76838	2.35	0.09310	N	1	D	0.61080	0.989	D	0.71656	0.974	T	0.52087	-0.8622	10	0.87932	D	0	.	11.2007	0.48739	1.0:0.0:0.0:0.0	.	285	Q8NGZ5	OR2G2_HUMAN	P	285	ENSP00000326349:T285P	ENSP00000326349:T285P	T	+	1	0	OR2G2	245819137	0.000000	0.05858	0.814000	0.32528	0.682000	0.39822	0.429000	0.21412	1.730000	0.51580	0.481000	0.45027	ACC	OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000177489		0.433	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	-	0	104	0	A			247752514	1	tier1	-	no_errors	ENST00000320065	ensembl	human	known	74_37	missense	20.21	75	19	SNP	0.040	C	C	247752514	A	C	247752514	3	2	138	1	0	0	0	0	1	0	0	0	11037	43	2	4	855	4	OR2G2	1	247752514	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	32927299	247752514	1498107	29	35191											
HADHA	3030	genome.wustl.edu	37	chr2	26416532	26416532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactttgcccagatcttccGccacatgtttcgctacatcc	8	12	6	15	2	1	2	0	0	1	2	4	2	3	2	4	0	2	2	4	0	1	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:26416532G>A	ENST00000380649.3	-	17	1928	c.1799C>T	c.(1798-1800)gCg>gTg	p.A600V		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	600					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)	p.A600G(1)		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)					CAGATCTTCCGCCACATGTTT	0.547																																																	1	Substitution - Missense(1)	lung(1)											176	165	169					2																	26416532		2203	4300	6503	SO:0001583	missense	0			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.1799C>T	2.37:g.26416532G>A	ENSP00000370023:p.Ala600Val		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit	p.A600V	ENST00000380649.3	37	c.1799	CCDS1721.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.730857	0.96856	.	.	ENSG00000084754	ENST00000380649;ENST00000492433	D;D	0.90324	-2.65;-2.65	5.97	5.97	0.96955	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.148065	0.64402	D	0.000012	D	0.94248	0.8153	M	0.79011	2.435	0.80722	D	1	D;D	0.58620	0.983;0.983	P;P	0.56278	0.795;0.795	D	0.93189	0.6581	10	0.41790	T	0.15	-30.8695	18.9877	0.92779	0.0:0.0:1.0:0.0	.	600;600	E9KL44;P40939	.;ECHA_HUMAN	V	600;86	ENSP00000370023:A600V;ENSP00000438039:A86V	ENSP00000370023:A600V	A	-	2	0	HADHA	26270036	1.000000	0.71417	0.869000	0.34112	0.984000	0.73092	9.677000	0.98645	2.828000	0.97474	0.655000	0.94253	GCG	HADHA	-	pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit	ENSG00000084754		0.547	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADHA	HGNC	protein_coding	OTTHUMT00000214051.1		0	40	0	G	NM_000182		26416532	-1			no_errors	ENST00000380649	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.960	A	A	26416532	G	A	26416532	3	1	138	1	0	0	0	0	1	0	0	0	6970	1087	38	1	508	1	HADHA	2	26416532	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09		26416532	216782841	30	35192											
CLIP4	79745	genome.wustl.edu	37	chr2	29366762	29366762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactggcaaggcaatgcttaCgtcacttggcctgaagttgg	9	10	12	10	1	1	1	1	1	0	0	1	1	1	1	1	4	2	4	1	4	4	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:29366762C>T	ENST00000320081.5	+	7	1091	c.836C>T	c.(835-837)aCg>aTg	p.T279M	CLIP4_ENST00000401605.1_Missense_Mutation_p.T279M|CLIP4_ENST00000401617.2_Missense_Mutation_p.T172M|CLIP4_ENST00000404424.1_Missense_Mutation_p.T279M	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	279										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GCAATGCTTACGTCACTTGGC	0.468																																																	0													249	220	230					2																	29366762		2203	4300	6503	SO:0001583	missense	0			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.836C>T	2.37:g.29366762C>T	ENSP00000327009:p.Thr279Met		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.T279M	ENST00000320081.5	37	c.836	CCDS1770.1	2	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671728	0.29693	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.64	5.64	0.86602	Cytoskeleton-associated protein, Gly-rich domain (2);	0.296137	0.37669	N	0.001988	T	0.59211	0.2177	L	0.44542	1.39	0.09310	N	1	P;P	0.45011	0.848;0.713	B;B	0.34093	0.162;0.175	T	0.63519	-0.6619	10	0.59425	D	0.04	.	5.9855	0.19432	0.0:0.6761:0.1699:0.154	.	279;279	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	M	279;172;279;279;279;280;261	ENSP00000384242:T279M;ENSP00000385148:T172M;ENSP00000385594:T279M;ENSP00000327009:T279M	ENSP00000327009:T279M	T	+	2	0	CLIP4	29220266	0.004000	0.15560	0.008000	0.14137	0.529000	0.34654	1.278000	0.33179	2.654000	0.90174	0.650000	0.86243	ACG	CLIP4	-	superfamily_CAP-Gly_domain	ENSG00000115295		0.468	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP4	HGNC	protein_coding	OTTHUMT00000215123.2	-	0	40	0	C	NM_024692		29366762	1	tier1	-	no_errors	ENST00000320081	ensembl	human	known	74_37	missense	28.95	27	11	SNP	0.009	T	T	29366762	C	T	29366762	3	4	138	1	0	0	0	0	1	0	0	0	3542	536	19	1	858	1	CLIP4	2	29366762	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	2950230	29366762	213832611	31	35193											
SRD5A2	0	genome.wustl.edu	37	chr2	31754426	31754426	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacaaagtgagaaaaatgCaaatgcaagtgctgggaggg	18	5	14	4	0	0	1	0	1	0	1	0	4	0	2	0	2	4	3	0	2	6	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:31754426C>T	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							GAGAAAAATGCAAATGCAAGT	0.458																																																	0													71	70	70					2																	31754426		1902	4122	6024			0																															2.37:g.31754426C>T				RNA	SNP	-	NULL	ENST00000435713.1	37	NULL		2																																																																																			SRD5A2	-	-	ENSG00000049319		0.458	AL133247.2-001	KNOWN	basic|exp_conf	antisense	SRD5A2	HGNC	antisense	OTTHUMT00000325125.1	-	0	51	0	C			31754426	-1	tier1	-	no_errors	ENST00000233139	ensembl	human	known	74_37	rna	9.30	39	4	SNP	1.000	T	T	31754426	C	T	31754426	1	4	138	0	1	0	0	0	0	0	0	0	15186	710	25	3		3	SRD5A2	2	31754426	RNA	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	2387664	31754426	211444947	32	35194											
STON1	11037	genome.wustl.edu	37	chr2	48822435	48822435	+	Silent	SNP	T	T	C	0	1	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	aaaattggtgactgcataacTcagtaggagtagcaagagtt	15	10	11	5	0	1	2	1	1	0	1	1	3	1	3	0	2	3	5	0	2	6	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:48822435T>C	ENST00000406226.1	+	5	2397	c.2202T>C	c.(2200-2202)acT>acC	p.T734T	STON1_ENST00000404752.1_Silent_p.T734T|STON1-GTF2A1L_ENST00000309827.2_Intron|STON1-GTF2A1L_ENST00000394754.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Intron|STON1_ENST00000309835.3_Silent_p.T734T	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	734					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTGCATAACTCAGTAGGAGT	0.398																																																	0													121	108	113					2																	48822435		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.2202T>C	2.37:g.48822435T>C			A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.T734	ENST00000406226.1	37	c.2202	CCDS1841.1	2																																																																																			STON1	-	pirsf_Stonin	ENSG00000243244		0.398	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1	HGNC	protein_coding	OTTHUMT00000323848.2	-	0	87	0	T	NM_006873		48822435	1	tier1	-	no_errors	ENST00000309835	ensembl	human	known	74_37	silent	15.87	53	10	SNP	0.994	C	C	48822435	T	C	48822435	2	2	138	1	0	0	0	0	0	0	0	1	15363	1538	54	4		4	STON1	2	48822435	Silent	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	17068009	48822435	194376938	33	35195											
DGUOK	1716	genome.wustl.edu	37	chr2	74154136	74154136	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tcctcctccagaggcctgcaCgcggggcgcgggccccgaag	5	4	15	17	5	0	1	0	0	0	1	3	2	3	1	6	4	1	1	6	4	1	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:74154136C>T	ENST00000264093.4	+	1	184	c.99C>T	c.(97-99)caC>caT	p.H33H	DGUOK_ENST00000348222.1_Silent_p.H33H|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000356837.6_Silent_p.H33H	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	33					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	GAGGCCTGCACGCGGGGCGCG	0.672																																																	0													36	39	38					2																	74154136		2203	4300	6503	SO:0001819	synonymous_variant	0			U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.99C>T	2.37:g.74154136C>T			P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Silent	SNP	pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase	p.H33	ENST00000264093.4	37	c.99	CCDS1931.1	2																																																																																			DGUOK	-	NULL	ENSG00000114956		0.672	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGUOK	HGNC	protein_coding	OTTHUMT00000252050.1	-	0	40	0	C			74154136	1	tier1	-	no_errors	ENST00000264093	ensembl	human	known	74_37	silent	18.03	50	11	SNP	0.930	T	T	74154136	C	T	74154136	2	4	138	1	0	0	0	0	0	0	0	1	4489	535	19	1		1	DGUOK	2	74154136	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	25331701	74154136	169045237	34	35196											
ANKRD36	375248	genome.wustl.edu	37	chr2	97853088	97853088	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaactgacgaggaagactCtgtttcgaatatagccacag	14	9	9	9	2	1	2	0	1	1	1	2	5	1	3	1	1	3	1	1	1	6	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:97853088C>G	ENST00000461153.2	+	32	2337	c.2093C>G	c.(2092-2094)tCt>tGt	p.S698C	ANKRD36_ENST00000420699.2_Missense_Mutation_p.S698C			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	698										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAGGAAGACTCTGTTTCGAAT	0.308																																																	0													39	32	34					2																	97853088		692	1590	2282	SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2093C>G	2.37:g.97853088C>G	ENSP00000419530:p.Ser698Cys		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S698C	ENST00000461153.2	37	c.2093	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	10.20	1.285523	0.23478	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.20598	2.06;2.06	1.37	1.37	0.22104	.	.	.	.	.	T	0.32615	0.0835	L	0.43923	1.385	0.18873	N	0.999989	D;D	0.76494	0.996;0.999	D;D	0.87578	0.926;0.998	T	0.06445	-1.0826	9	0.54805	T	0.06	.	6.2063	0.20604	0.0:1.0:0.0:0.0	.	698;165	A6QL64;Q5JPF3-3	AN36A_HUMAN;.	C	698;698;60	ENSP00000419530:S698C;ENSP00000391950:S698C	ENSP00000391950:S698C	S	+	2	0	ANKRD36	97216815	0.016000	0.18221	0.016000	0.15963	0.012000	0.07955	1.937000	0.40193	1.058000	0.40530	0.184000	0.17185	TCT	ANKRD36	-	NULL	ENSG00000135976		0.308	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0	207	0	C			97853088	1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	missense	17.42	217	46	SNP	0.024	G	G	97853088	C	G	97853088	3	3	138	1	0	0	0	0	1	0	0	0	665	913	32	5	2219	5	ANKRD36	2	97853088	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	23698952	97853088	145346285	35	35197											
MRPL30	51263	genome.wustl.edu	37	chr2	99802708	99802708	+	Silent	SNP	C	C	A	0	0	0	1	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	gtagttcaatggcccccaggCagactacaggtaagtgtttc	10	10	11	10	0	1	1	1	0	0	1	2	1	1	1	2	3	1	5	2	3	4	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:99802708C>A	ENST00000338148.3	+	2	240	c.42C>A	c.(40-42)ggC>ggA	p.G14G	MRPL30_ENST00000409145.1_Silent_p.G14G|MRPL30_ENST00000410042.1_Silent_p.G14G|C2orf15_ENST00000512183.2_Silent_p.G14G|MRPL30_ENST00000465432.1_Intron	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	14						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GGCCCCCAGGCAGACTACAGG	0.383																																																	0													115	106	109					2																	99802708		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"Mitochondrial ribosomal proteins / large subunits"	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.42C>A	2.37:g.99802708C>A			A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Silent	SNP	pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like	p.G44	ENST00000338148.3	37	c.132	CCDS2041.1	2																																																																																			C2orf15	-	NULL	ENSG00000241962		0.383	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf15	HGNC	protein_coding	OTTHUMT00000253130.2	-	0	63	0	C			99802708	1	tier1	-	no_errors	ENST00000424491	ensembl	human	known	74_37	silent	19.23	63	15	SNP	0.000	A	A	99802708	C	A	99802708	2	1	138	1	0	0	0	0	0	0	0	1	9832	697	25	3		3	MRPL30	2	99802708	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1949620	99802708	143396665	36	35198											
EIF5B	9669	genome.wustl.edu	37	chr2	100006829	100006829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgttgagcaagagacttGcacactgtgaagagctgaga	13	8	12	8	0	0	5	0	3	0	3	0	7	0	5	1	0	3	4	1	0	2	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:100006829G>C	ENST00000289371.6	+	16	2753	c.2551G>C	c.(2551-2553)Gca>Cca	p.A851P		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	851					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						CAAGAGACTTGCACACTGTGA	0.403																																					Colon(162;2388 2567 2705 3444)												0													136	125	128					2																	100006829		1951	4161	6112	SO:0001583	missense	0			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.2551G>C	2.37:g.100006829G>C	ENSP00000289371:p.Ala851Pro		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.A851P	ENST00000289371.6	37	c.2551	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.397737	0.96009	.	.	ENSG00000158417	ENST00000289371	T	0.76578	-1.03	5.51	5.51	0.81932	.	.	.	.	.	D	0.85622	0.5739	M	0.66506	2.035	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	D	0.84470	0.0599	8	.	.	.	-26.0307	19.7779	0.96402	0.0:0.0:1.0:0.0	.	851	O60841	IF2P_HUMAN	P	851	ENSP00000289371:A851P	.	A	+	1	0	EIF5B	99373261	1.000000	0.71417	0.947000	0.38551	0.948000	0.59901	9.705000	0.98719	2.748000	0.94277	0.462000	0.41574	GCA	EIF5B	-	superfamily_P-loop_NTPase	ENSG00000158417		0.403	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	-	0	57	0	G	NM_015904		100006829	1	tier1	-	no_errors	ENST00000289371	ensembl	human	known	74_37	missense	18.75	39	9	SNP	1.000	C	C	100006829	G	C	100006829	3	2	138	1	0	0	0	0	1	0	0	0	5060	1319	46	5	2613	5	EIF5B	2	100006829	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	204121	100006829	143192544	37	35199											
DPP10	57628	genome.wustl.edu	37	chr2	116572395	116572395	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaccaggaggccagctggTtacagataagttccatattg	13	9	11	8	0	0	2	0	0	0	2	1	3	1	3	3	3	3	3	3	3	4	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:116572395T>G	ENST00000410059.1	+	20	2207	c.1727T>G	c.(1726-1728)gTt>gGt	p.V576G	DPP10_ENST00000310323.8_Missense_Mutation_p.V569G|DPP10_ENST00000409163.1_Missense_Mutation_p.V526G|DPP10_ENST00000393147.2_Missense_Mutation_p.V580G	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	576						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						GGCCAGCTGGTTACAGATAAG	0.418																																																	0													130	124	126					2																	116572395		2203	4300	6503	SO:0001583	missense	0			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.1727T>G	2.37:g.116572395T>G	ENSP00000386565:p.Val576Gly		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.V580G	ENST00000410059.1	37	c.1739	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	T	17.18	3.322770	0.60634	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	T	0.74041	-0.3792	10	0.87932	D	0	-4.9933	14.3232	0.66502	0.0:0.0:0.0:1.0	.	569;580;572;576	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	G	576;526;580;569;526	ENSP00000386565:V576G;ENSP00000387038:V526G;ENSP00000376855:V580G;ENSP00000309066:V569G	ENSP00000309066:V569G	V	+	2	0	DPP10	116288865	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	7.326000	0.79133	2.182000	0.69389	0.533000	0.62120	GTT	DPP10	-	NULL	ENSG00000175497		0.418	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0	49	0	T	NM_020868		116572395	1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	10.96	65	8	SNP	1.000	G	G	116572395	T	G	116572395	3	3	138	1	0	0	0	0	1	0	0	0	4741	1725	60	4	1976	4	DPP10	2	116572395	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	16565566	116572395	126626978	38	35200											
CYP27C1	339761	genome.wustl.edu	37	chr2	127950791	127950791	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtctcctttccgcagcCagcgctcaggccggaactcc	7	8	9	17	3	2	0	1	0	1	0	5	1	4	1	5	2	3	2	5	2	2	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:127950791C>T	ENST00000335247.7	-	7	1011	c.881G>A	c.(880-882)tGg>tAg	p.W294*	CYP27C1_ENST00000409327.1_Nonsense_Mutation_p.W294*	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	294						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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TTTCCGCAGCCAGCGCTCAGG	0.552																																																	0													105	101	102					2																	127950791		2203	4300	6503	SO:0001587	stop_gained	0			AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"Cytochrome P450s"	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.881G>A	2.37:g.127950791C>T	ENSP00000334128:p.Trp294*		Q6ZNI7	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.W294*	ENST00000335247.7	37	c.881	CCDS33285.1	2	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257526	0.59321	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	.	.	.	4.11	3.22	0.36961	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7064	11.9879	0.53157	0.0:0.9133:0.0:0.0867	.	.	.	.	X	294	.	ENSP00000334128:W294X	W	-	2	0	CYP27C1	127667261	1.000000	0.71417	0.990000	0.47175	0.016000	0.09150	5.174000	0.65015	0.832000	0.34804	0.484000	0.47621	TGG	CYP27C1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000186684		0.552	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27C1	HGNC	protein_coding	OTTHUMT00000331046.1	-	0	21	0	C	NM_001001665		127950791	-1	tier1	-	no_errors	ENST00000335247	ensembl	human	known	74_37	nonsense	24.32	28	9	SNP	1.000	T	T	127950791	C	T	127950791	4	4	138	1	0	0	0	0	0	1	0	0	4169	595	21	3	245	3	CYP27C1	2	127950791	Nonsense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	11378396	127950791	115248582	39	35201											
GALNT13	114805	genome.wustl.edu	37	chr2	155295209	155295209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaatgccaccatatgagaGgaaatcagttatgggaatat	17	10	9	5	0	1	1	1	1	0	1	1	4	1	3	2	2	1	1	2	2	7	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:155295209G>A	ENST00000392825.3	+	12	2068	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_Missense_Mutation_p.G501R	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	501	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)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CCATATGAGAGGAAATCAGTT	0.333																																																	0													129	132	131					2																	155295209		2203	4300	6503	SO:0001583	missense	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1501G>A	2.37:g.155295209G>A	ENSP00000376570:p.Gly501Arg		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G501R	ENST00000392825.3	37	c.1501	CCDS2199.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.158550|5.158550	0.94686|0.94686	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000392825;ENST00000409237;ENST00000453715|ENST00000450838;ENST00000422126	T;T;T|T	0.77877|0.25579	-1.13;-1.13;1.66|1.79	5.55|5.55	5.55|5.55	0.83447|0.83447	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44664|0.44664	0.1304|0.1304	M|M	0.94021|0.94021	3.485|3.485	0.80722|0.80722	D|D	1|1	D;D|B	0.71674|0.21606	0.985;0.998|0.058	P;D|B	0.65874|0.20184	0.886;0.939|0.028	T|T	0.53049|0.53049	-0.8493|-0.8493	10|9	0.72032|0.87932	D|D	0.01|0	.|.	16.9935|16.9935	0.86360|0.86360	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	501;501|480	Q08ER7;Q8IUC8|Q8IUC8-2	.;GLT13_HUMAN|.	R|K	501;501;36|86;39	ENSP00000376570:G501R;ENSP00000387239:G501R;ENSP00000396612:G36R|ENSP00000406237:R86K	ENSP00000376570:G501R|ENSP00000391469:R39K	G|R	+|+	1|2	0|0	GALNT13|GALNT13	155003455|155003455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.676000|9.676000	0.98643|0.98643	2.611000|2.611000	0.88343|0.88343	0.655000|0.655000	0.94253|0.94253	GGA|AGG	GALNT13	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000144278		0.333	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	-	0	119	0	G	NM_052917		155295209	1	tier1	-	no_errors	ENST00000409237	ensembl	human	known	74_37	missense	11.51	123	16	SNP	1.000	A	A	155295209	G	A	155295209	3	1	138	1	0	0	0	0	1	0	0	0	6236	1001	35	3	1539	3	GALNT13	2	155295209	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	27344418	155295209	87904164	40	35202											
SCN3A	6328	genome.wustl.edu	37	chr2	165972030	165972030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcagcttgttcaccttctCggggtagaacaacatcaact	10	13	7	11	1	4	1	3	0	1	1	5	1	4	1	1	2	4	3	1	2	4	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:165972030C>T	ENST00000360093.3	-	19	3940	c.3449G>A	c.(3448-3450)cGa>cAa	p.R1150Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.R1101Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.R1150Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1150					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)	TTCACCTTCTCGGGGTAGAAC	0.398																																																	0													129	120	123					2																	165972030		2203	4300	6503	SO:0001583	missense	0			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.3449G>A	2.37:g.165972030C>T	ENSP00000353206:p.Arg1150Gln		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R1150Q	ENST00000360093.3	37	c.3449		2	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752574	0.49362	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.22	5.22	0.72569	Sodium ion transport-associated (1);	0.000000	0.45126	D	0.000382	T	0.78773	0.4336	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B	0.27791	0.02;0.189;0.157;0.157;0.034	B;B;B;B;B	0.28991	0.085;0.097;0.058;0.058;0.051	T	0.74948	-0.3490	10	0.38643	T	0.18	.	19.1509	0.93488	0.0:1.0:0.0:0.0	.	1150;1101;1101;1101;1150	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Q	1150;1150;1101;1101	ENSP00000353206:R1150Q;ENSP00000283254:R1150Q;ENSP00000386726:R1101Q;ENSP00000403348:R1101Q	ENSP00000283254:R1150Q	R	-	2	0	SCN3A	165680276	0.981000	0.34729	1.000000	0.80357	0.997000	0.91878	2.993000	0.49425	2.599000	0.87857	0.563000	0.77884	CGA	SCN3A	-	pfam_Na_trans_assoc	ENSG00000153253		0.398	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		-	0	47	0	C	NM_006922		165972030	-1	tier1	-	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	10.34	52	6	SNP	1.000	T	T	165972030	C	T	165972030	3	4	138	1	0	0	0	0	1	0	0	0	13963	884	31	1	2593	1	SCN3A	2	165972030	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	10676821	165972030	77227343	41	35203											
TTC21B	79809	genome.wustl.edu	37	chr2	166747426	166747426	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttctcagccattgagaaaAatcttgggacatcctcgagt	11	12	9	9	1	2	1	1	1	2	1	5	4	3	2	2	1	1	1	2	1	2	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:166747426A>C	ENST00000243344.7	-	23	3160	c.3023T>G	c.(3022-3024)tTt>tGt	p.F1008C	TTC21B_ENST00000536175.1_5'Flank	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1008					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.F1008S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CATTGAGAAAAATCTTGGGAC	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											62	67	65					2																	166747426		2203	4300	6503	SO:0001583	missense	0			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.3023T>G	2.37:g.166747426A>C	ENSP00000243344:p.Phe1008Cys		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F1008C	ENST00000243344.7	37	c.3023	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874378	0.72180	.	.	ENSG00000123607	ENST00000243344	T	0.53423	0.62	5.57	4.38	0.52667	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.092533	0.85682	D	0.000000	T	0.68732	0.3033	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.72097	-0.4393	10	0.72032	D	0.01	-15.8224	11.7456	0.51817	0.8678:0.0:0.0:0.1322	.	1008	Q7Z4L5	TT21B_HUMAN	C	1008	ENSP00000243344:F1008C	ENSP00000243344:F1008C	F	-	2	0	TTC21B	166455672	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.442000	0.80503	0.880000	0.35969	0.445000	0.29226	TTT	TTC21B	-	pfscan_TPR-contain_dom	ENSG00000123607		0.328	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	-	0	50	0	A	NM_024753		166747426	-1	tier1	-	no_errors	ENST00000243344	ensembl	human	known	74_37	missense	19.61	41	10	SNP	1.000	C	C	166747426	A	C	166747426	3	2	138	1	0	0	0	0	1	0	0	0	16737	14	1	4	955	4	TTC21B	2	166747426	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	775396	166747426	76451947	42	35204											
STK39	27347	genome.wustl.edu	37	chr2	169020387	169020387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttatgatatccaacattGaacctaagtagacaaacaga	18	11	5	7	0	0	4	0	2	0	2	1	4	1	4	2	0	3	1	2	0	7	6			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:169020387G>A	ENST00000355999.4	-	4	1139	c.434C>T	c.(433-435)tCa>tTa	p.S145L		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|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 potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						ATCCAACATTGAACCTAAGTA	0.318																																																	0													106	96	99					2																	169020387		1846	4090	5936	SO:0001583	missense	0			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"STE20/SPS1 homolog (yeast)"	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.434C>T	2.37:g.169020387G>A	ENSP00000348278:p.Ser145Leu		O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S145L	ENST00000355999.4	37	c.434	CCDS42770.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.282201	0.95489	.	.	ENSG00000198648	ENST00000355999	T	0.28069	1.63	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	0.85682	D	0.000000	T	0.59662	0.2210	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60434	-0.7264	10	0.87932	D	0	-8.7479	20.2602	0.98440	0.0:0.0:1.0:0.0	.	145	Q9UEW8	STK39_HUMAN	L	145	ENSP00000348278:S145L	ENSP00000348278:S145L	S	-	2	0	STK39	168728633	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	TCA	STK39	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000198648		0.318	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK39	HGNC	protein_coding	OTTHUMT00000258112.2	-	0	54	0	G	NM_013233		169020387	-1	tier1	-	no_errors	ENST00000355999	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	A	A	169020387	G	A	169020387	3	1	138	1	0	0	0	0	1	0	0	0	15352	1294	45	3	1263	3	STK39	2	169020387	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	2272961	169020387	74178986	43	35205											
PDE11A	50940	genome.wustl.edu	37	chr2	178769881	178769881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gagctgagcgttagatatggCgattccacaaaatggaagat	14	9	12	6	2	0	3	0	1	0	2	1	6	1	4	1	2	2	2	1	2	5	3	rs560754146	byFrequency	TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:178769881C>T	ENST00000286063.6	-	3	1422	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	PDE11A_ENST00000449286.2_Missense_Mutation_p.A11T|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.A119T|PDE11A_ENST00000409504.1_Missense_Mutation_p.A11T	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	369	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TTAGATATGGCGATTCCACAA	0.363									Primary Pigmented Nodular Adrenocortical Disease, Familial				C|||	2	0.000399361	0.0015	0	5008	,	,		19626	0		0	False		,,,				2504	0																0													126	111	116					2																	178769881		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1105G>A	2.37:g.178769881C>T	ENSP00000286063:p.Ala369Thr		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.A369T	ENST00000286063.6	37	c.1105	CCDS33334.1	2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393992	0.83011	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000431253;ENST00000449286	T;T;T;T	0.75704	-0.96;-0.96;-0.32;-0.32	5.36	5.36	0.76844	GAF (2);	0.154289	0.56097	D	0.000024	D	0.83184	0.5199	M	0.80847	2.515	0.80722	D	1	D;D	0.59357	0.969;0.985	P;P	0.52514	0.701;0.636	D	0.84377	0.0547	10	0.46703	T	0.11	.	19.0924	0.93233	0.0:1.0:0.0:0.0	.	119;369	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	T	369;119;11;44;11	ENSP00000286063:A369T;ENSP00000351232:A119T;ENSP00000386539:A11T;ENSP00000390599:A11T	ENSP00000286063:A369T	A	-	1	0	PDE11A	178478127	1.000000	0.71417	0.964000	0.40570	0.771000	0.43674	5.597000	0.67577	2.513000	0.84729	0.563000	0.77884	GCC	PDE11A	-	pfam_GAF,smart_GAF	ENSG00000128655		0.363	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2	-	0	54	0	C			178769881	-1	tier1	-	no_errors	ENST00000286063	ensembl	human	known	74_37	missense	12.68	62	9	SNP	1.000	T	T	178769881	C	T	178769881	3	4	138	1	0	0	0	0	1	0	0	0	11670	768	27	1	1768	1	PDE11A	2	178769881	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	9749494	178769881	64429492	44	35206											
TTN	7273	genome.wustl.edu	37	chr2	179544127	179544127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaactttctcctctggcttCttaggaacctcaggcacttt	7	14	8	12	0	4	0	1	0	3	0	5	2	4	2	2	4	2	2	2	4	3	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:179544127C>G	ENST00000591111.1	-	140	32954	c.32730G>C	c.(32728-32730)aaG>aaC	p.K10910N	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K11227N|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K9983N|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11681	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)			CCTCTGGCTTCTTAGGAACCT	0.363																																																	0													100	94	96					2																	179544127		1827	4087	5914	SO:0001583	missense	0			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.32730G>C	2.37:g.179544127C>G	ENSP00000465570:p.Lys10910Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K9983N	ENST00000591111.1	37	c.29949		2	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800539	0.31869	.	.	ENSG00000155657	ENST00000342992	T	0.70869	-0.52	5.82	5.82	0.92795	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.73536	0.3599	M	0.89904	3.07	0.80722	D	1	P	0.37061	0.58	B	0.37601	0.254	T	0.78448	-0.2200	9	0.87932	D	0	.	6.1454	0.20283	0.183:0.7063:0.0:0.1107	.	10910	Q8WZ42	TITIN_HUMAN	N	9983	ENSP00000343764:K9983N	ENSP00000343764:K9983N	K	-	3	2	TTN	179252372	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.288000	0.33296	2.734000	0.93682	0.655000	0.94253	AAG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	101	0	C	NM_133378		179544127	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	13.95	111	18	SNP	1.000	G	G	179544127	C	G	179544127	3	3	138	1	0	0	0	0	1	0	0	0	16784	912	32	5	70732	5	TTN	2	179544127	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	774246	179544127	63655246	45	35207											
TTN	7273	genome.wustl.edu	37	chr2	179659787	179659787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctcttctgtcctgatCtgagtagaggttgtcagcgt	6	15	10	10	1	5	3	1	2	4	1	7	3	6	3	1	1	1	2	1	1	1	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:179659787C>A	ENST00000591111.1	-	7	1331	c.1107G>T	c.(1105-1107)caG>caT	p.Q369H	TTN_ENST00000342175.6_Missense_Mutation_p.Q369H|TTN_ENST00000360870.5_Missense_Mutation_p.Q369H|TTN_ENST00000589042.1_Missense_Mutation_p.Q369H|TTN_ENST00000359218.5_Missense_Mutation_p.Q369H|TTN_ENST00000460472.2_Missense_Mutation_p.Q369H|TTN_ENST00000342992.6_Missense_Mutation_p.Q369H			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTCCTGATCTGAGTAGAGG	0.582																																																	0													119	109	112					2																	179659787		2203	4300	6503	SO:0001583	missense	0			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.1107G>T	2.37:g.179659787C>A	ENSP00000465570:p.Gln369His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q369H	ENST00000591111.1	37	c.1107		2	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315881	0.23908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69306	-0.39;-0.05;-0.09;-0.1;-0.07	6.16	5.26	0.73747	.	.	.	.	.	T	0.49915	0.1585	N	0.17082	0.46	0.23287	N	0.997976	B;B;B;B;B	0.16166	0.0;0.0;0.0;0.002;0.016	B;B;B;B;B	0.19666	0.001;0.001;0.001;0.003;0.026	T	0.34428	-0.9829	9	0.87932	D	0	.	7.314	0.26491	0.1466:0.7183:0.0:0.1351	.	369;369;369;369;369	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	369	ENSP00000343764:Q369H;ENSP00000434586:Q369H;ENSP00000340554:Q369H;ENSP00000352154:Q369H;ENSP00000354117:Q369H	ENSP00000340554:Q369H	Q	-	3	2	TTN	179368032	1.000000	0.71417	0.999000	0.59377	0.469000	0.32828	1.522000	0.35921	2.937000	0.99478	0.650000	0.86243	CAG	TTN	-	NULL	ENSG00000155657		0.582	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	65	0	C	NM_133378		179659787	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	18.42	62	14	SNP	1.000	A	A	179659787	C	A	179659787	3	1	138	1	0	0	0	0	1	0	0	0	16784	912	32	3	110305	3	TTN	2	179659787	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	115660	179659787	63539586	46	35208											
FAM171B	165215	genome.wustl.edu	37	chr2	187627401	187627401	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggagcaccctggagaaGagtcgccaggaaggaaaagc	14	4	14	9	1	1	2	1	0	0	2	2	6	1	5	2	4	2	1	2	4	4	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:187627401G>T	ENST00000304698.5	+	8	2535	c.2332G>T	c.(2332-2334)Gag>Tag	p.E778*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	778						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.E778K(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCCTGGAGAAGAGTCGCCAGG	0.512																																																	1	Substitution - Missense(1)	skin(1)											60	60	60					2																	187627401		2203	4299	6502	SO:0001587	stop_gained	0			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2332G>T	2.37:g.187627401G>T	ENSP00000304108:p.Glu778*		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Nonsense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.E778*	ENST00000304698.5	37	c.2332	CCDS33347.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.749551	0.97809	.	.	ENSG00000144369	ENST00000304698	.	.	.	6.02	6.02	0.97574	.	0.109041	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-23.0115	15.2844	0.73816	0.0:0.0:0.8599:0.14	.	.	.	.	X	778	.	ENSP00000304108:E778X	E	+	1	0	FAM171B	187335646	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	4.909000	0.63314	2.850000	0.98022	0.650000	0.86243	GAG	FAM171B	-	pfam_Uncharacterised_FAM171	ENSG00000144369		0.512	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	HGNC	protein_coding	OTTHUMT00000334679.1		0	34	0	G	NM_177454		187627401	1			no_errors	ENST00000304698	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T	T	187627401	G	T	187627401	4	4	138	1	0	0	0	0	0	1	0	0	5510	943	33	3	2362	3	FAM171B	2	187627401	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	7967614	187627401	55571972	47	35209											
MAP2	4133	genome.wustl.edu	37	chr2	210559608	210559608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcactgatgataaagttcGaagagatttggccacagacc	14	8	11	8	1	0	4	0	2	0	2	1	6	0	4	2	2	0	2	2	2	3	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:210559608G>A	ENST00000360351.4	+	7	3220	c.2714G>A	c.(2713-2715)cGa>cAa	p.R905Q	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R901Q	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	905					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GATAAAGTTCGAAGAGATTTG	0.448																																					Pancreas(27;423 979 28787 29963)												0													71	71	71					2																	210559608		2203	4300	6503	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2714G>A	2.37:g.210559608G>A	ENSP00000353508:p.Arg905Gln		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.R905Q	ENST00000360351.4	37	c.2714	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042877	0.75732	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26223	1.75;1.75	5.9	5.9	0.94986	MAP2/Tau projection (1);	0.000000	0.52532	D	0.000062	T	0.50171	0.1600	L	0.59436	1.845	0.36792	D	0.884906	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.54543	-0.8278	10	0.87932	D	0	-9.5774	18.4573	0.90725	0.0:0.0:1.0:0.0	.	901;905	P11137-3;P11137	.;MAP2_HUMAN	Q	905;901	ENSP00000353508:R905Q;ENSP00000392164:R901Q	ENSP00000353508:R905Q	R	+	2	0	MAP2	210267853	0.998000	0.40836	0.913000	0.36048	0.986000	0.74619	3.747000	0.55134	2.808000	0.96608	0.650000	0.86243	CGA	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.448	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2		0	38	0	G	NM_001039538		210559608	1			no_errors	ENST00000360351	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.968	A	A	210559608	G	A	210559608	3	1	138	1	0	0	0	0	1	0	0	0	9273	1058	37	1	2728	1	MAP2	2	210559608	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	22932207	210559608	32639765	48	35210											
RBM44	375316	genome.wustl.edu	37	chr2	238726336	238726336	+	Silent	SNP	A	A	C	1	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	gtttatggacaagaagagtcActtcatgtctccaaatttca	13	13	7	8	0	4	2	3	0	1	2	5	3	4	3	1	1	0	1	1	1	4	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:238726336A>C	ENST00000409864.1	+	3	1031	c.777A>C	c.(775-777)tcA>tcC	p.S259S	RBM44_ENST00000316997.4_Silent_p.S259S|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	258						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAGAAGAGTCACTTCATGTCT	0.343																																																	0													64	62	63					2																	238726336		1856	4095	5951	SO:0001819	synonymous_variant	0			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.777A>C	2.37:g.238726336A>C			A0AUW3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S259	ENST00000409864.1	37	c.777	CCDS46554.1	2																																																																																			RBM44	-	NULL	ENSG00000177483		0.343	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	HGNC	protein_coding	OTTHUMT00000328733.2	-	0	47	0	A	NM_001080504		238726336	1	tier1	-	no_errors	ENST00000316997	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.002	C	C	238726336	A	C	238726336	2	2	138	1	0	0	0	0	0	0	0	1	13183	146	6	4		4	RBM44	2	238726336	Silent	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	28166728	238726336	4473037	49	35211											
KIF1A	547	genome.wustl.edu	37	chr2	241737163	241737163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaccttcaccgaagcccCggccatctctgtggccttcg	5	8	9	19	4	2	0	1	0	1	0	4	1	2	0	7	2	1	0	7	2	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr2:241737163C>T	ENST00000320389.7	-	2	165	c.7G>A	c.(7-9)Ggg>Agg	p.G3R	KIF1A_ENST00000498729.2_Missense_Mutation_p.G3R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	3					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)		ACCGAAGCCCCGGCCATCTCT	0.567																																																	0													24	28	27					2																	241737163		1950	4133	6083	SO:0001583	missense	0			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.7G>A	2.37:g.241737163C>T	ENSP00000322791:p.Gly3Arg		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G3R	ENST00000320389.7	37	c.7	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.095670	0.94197	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283;ENST00000448728	T;T;T	0.74947	-0.72;-0.82;-0.89	4.78	4.78	0.61160	Kinesin, motor domain (2);	0.000000	0.85682	U	0.000000	T	0.80706	0.4674	L	0.35542	1.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.80764	0.991;0.994;0.844	D	0.83425	0.0035	10	0.87932	D	0	.	17.7694	0.88487	0.0:1.0:0.0:0.0	.	3;3;3	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	R	3	ENSP00000322791:G3R;ENSP00000438388:G3R;ENSP00000384231:G3R	ENSP00000322791:G3R	G	-	1	0	KIF1A	241385836	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	5.600000	0.67599	2.360000	0.80028	0.467000	0.42956	GGG	KIF1A	-	superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000130294		0.567	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	-	0	47	0	C	NM_138483		241737163	-1	tier1	-	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	19.61	41	10	SNP	1.000	T	T	241737163	C	T	241737163	3	4	138	1	0	0	0	0	1	0	0	0	8310	652	23	1	5249	1	KIF1A	2	241737163	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	3010827	241737163	1462210	50	35212											
ITPR1	3708	genome.wustl.edu	37	chr3	4693856	4693856	+	Frame_Shift_Del	DEL	T	T	-																															agcagggtattggaacagccTtttccgtttcaagcatctgg																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:4693856delT	ENST00000443694.2	+	9	905	c.905delT	c.(904-906)cttfs	p.L302fs	ITPR1_ENST00000354582.6_Frame_Shift_Del_p.L302fs|ITPR1_ENST00000302640.8_Frame_Shift_Del_p.L302fs|ITPR1_ENST00000423119.2_Frame_Shift_Del_p.L302fs|ITPR1_ENST00000544951.1_Frame_Shift_Del_p.L302fs|ITPR1_ENST00000456211.2_Frame_Shift_Del_p.L302fs|ITPR1_ENST00000357086.4_Frame_Shift_Del_p.L302fs			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	302	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGGAACAGCCTTTTCCGTTTC	0.527																																																	0													91	93	92					3																	4693856		2026	4175	6201	SO:0001589	frameshift_variant	0			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.905delT	3.37:g.4693856delT	ENSP00000401671:p.Leu302fs		E7EPX7|E9PDE9|Q14660|Q99897	Frame_Shift_Del	DEL	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.F303fs	ENST00000443694.2	37	c.905	CCDS54551.1	3																																																																																			ITPR1	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	ENSG00000150995		0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3		0	57	0	T	NM_002222		4693856	1	tier1		no_errors	ENST00000302640	ensembl	human	known	74_37	frame_shift_del	6.67	42	3	DEL	1.000	-	-	4693856	T	-	4693856	7	5	138	1	0	1	0	1	0	0	0	0	7947	1609	56	0	939	0	ITPR1	3	4693856	Frame_Shift_Del	DEL	T	TCGA-Q9-A6FW-01A-31D-A31U-09		4693856	193328574	51	35213											
IL17RC	84818	genome.wustl.edu	37	chr3	9970020	9970020	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagaacctctggcaagcCgcccgactgcaactgctgac	10	5	9	17	2	1	2	0	1	1	1	1	3	1	2	4	1	5	3	4	1	3	0	rs370054868		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:9970020C>T	ENST00000295981.3	+	11	1340	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Silent_p.A303A|IL17RC_ENST00000413608.1_Silent_p.A303A|IL17RC_ENST00000383812.4_Silent_p.A288A|IL17RC_ENST00000455057.1_Silent_p.A288A|IL17RC_ENST00000416074.2_Silent_p.A159A	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	374					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						TCTGGCAAGCCGCCCGACTGC	0.692																																																	0								C	,,,,,	0,4406		0,0,2203	37	43	41		909,909,864,864,909,1122	-10.6	0	3		41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IL17RC	NM_001203263.1,NM_001203264.1,NM_001203265.1,NM_032732.5,NM_153460.3,NM_153461.3	,,,,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	303/708,303/691,288/689,288/706,303/721,374/792	9970020	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			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.1122C>T	3.37:g.9970020C>T			E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	pfam_SEFIR	p.A374	ENST00000295981.3	37	c.1122	CCDS2590.1	3																																																																																			IL17RC	-	NULL	ENSG00000163702		0.692	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL17RC	HGNC	protein_coding	OTTHUMT00000250526.2	-	0	88	0	C	NM_032732		9970020	1	tier1	-	no_errors	ENST00000295981	ensembl	human	known	74_37	silent	6.10	154	10	SNP	0.000	T	T	9970020	C	T	9970020	2	4	138	1	0	0	0	0	0	0	0	1	7668	639	23	1		1	IL17RC	3	9970020	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	5276164	9970020	188052410	52	35214											
FANCD2	2177	genome.wustl.edu	37	chr3	10107133	10107133	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttactgagactttgtgtgGagagacagcataacggaaac	13	9	13	6	1	0	2	0	1	0	2	0	6	0	4	0	3	4	2	0	3	3	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:10107133G>T	ENST00000419585.1	+	24	2385	c.2224G>T	c.(2224-2226)Gag>Tag	p.E742*	FANCD2_ENST00000383806.1_Nonsense_Mutation_p.E742*|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.E742*|FANCD2_ENST00000287647.3_Nonsense_Mutation_p.E742*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	742					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)		ACTTTGTGTGGAGAGACAGCA	0.428			"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													179	177	178					3																	10107133		2203	4300	6503	SO:0001587	stop_gained	0	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.2224G>T	3.37:g.10107133G>T	ENSP00000398754:p.Glu742*		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E742*	ENST00000419585.1	37	c.2224	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.670855	0.98908	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	.	.	.	5.29	3.33	0.38152	.	0.329659	0.34362	N	0.004029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	13.0869	0.59146	0.0:0.3079:0.6921:0.0	.	.	.	.	X	742	.	ENSP00000287647:E742X	E	+	1	0	FANCD2	10082133	1.000000	0.71417	0.988000	0.46212	0.921000	0.55340	2.237000	0.43061	1.212000	0.43366	0.585000	0.79938	GAG	FANCD2	-	NULL	ENSG00000144554		0.428	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	-	0	66	0	G			10107133	1	tier1	-	no_errors	ENST00000287647	ensembl	human	known	74_37	nonsense	7.75	119	10	SNP	0.996	T	T	10107133	G	T	10107133	4	4	138	1	0	0	0	0	0	1	0	0	5687	1175	41	3	2314	3	FANCD2	3	10107133	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	137113	10107133	187915297	53	35215											
PPARG	5468	genome.wustl.edu	37	chr3	12475550	12475550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agacctcagacagattgtcaCggaacacgtgcagctactgc	12	7	10	12	2	2	3	2	0	0	3	2	4	2	4	1	1	5	2	1	1	2	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:12475550C>T	ENST00000287820.6	+	7	1545	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	PPARG_ENST00000397010.2_Missense_Mutation_p.T447M|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397012.2_Missense_Mutation_p.T447M|PPARG_ENST00000397015.2_Missense_Mutation_p.T447M|PPARG_ENST00000309576.6_Missense_Mutation_p.T447M|PPARG_ENST00000397026.2_Missense_Mutation_p.T453M	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	475	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CAGATTGTCACGGAACACGTG	0.527			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																																	Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	0													82	73	76					3																	12475550		2203	4300	6503	SO:0001583	missense	0			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1424C>T	3.37:g.12475550C>T	ENSP00000287820:p.Thr475Met		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.T475M	ENST00000287820.6	37	c.1424	CCDS2609.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759437	0.89932	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	5.61	5.61	0.85477	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98581	1.0650	10	0.62326	D	0.03	.	19.6973	0.96031	0.0:1.0:0.0:0.0	.	475	P37231	PPARG_HUMAN	M	447;447;447;447;453;475	ENSP00000380205:T447M;ENSP00000312472:T447M;ENSP00000380210:T447M;ENSP00000380207:T447M;ENSP00000380221:T453M;ENSP00000287820:T475M	ENSP00000287820:T475M	T	+	2	0	PPARG	12450550	1.000000	0.71417	0.847000	0.33407	0.969000	0.65631	7.776000	0.85560	2.657000	0.90304	0.650000	0.86243	ACG	PPARG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Str_hrmn_rcpt	ENSG00000132170		0.527	PPARG-002	KNOWN	basic|CCDS	protein_coding	PPARG	HGNC	protein_coding	OTTHUMT00000251979.2	-	0	41	0	C	NM_005037		12475550	1	tier1	-	no_errors	ENST00000287820	ensembl	human	known	74_37	missense	50.00	23	23	SNP	1.000	T	T	12475550	C	T	12475550	3	4	138	1	0	0	0	0	1	0	0	0	12338	536	19	1	1450	1	PPARG	3	12475550	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	2368417	12475550	185546880	54	35216											
SCN10A	6336	genome.wustl.edu	37	chr3	38835375	38835376	+	Frame_Shift_Del	DEL	CC	CC	-																															ctcttcttggtccttctgctCcctatgcttctctctggctt																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:38835375_38835376delCC	ENST00000449082.2	-	1	125_126	c.126_127delGG	c.(124-129)agggagfs	p.E43fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	43					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)	TCCTTCTGCTCCCTATGCTTCT	0.525																																																	0																																										SO:0001589	frameshift_variant	0			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.126_127delGG	3.37:g.38835375_38835376delCC	ENSP00000390600:p.Glu43fs		A6NDQ1	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.E43fs	ENST00000449082.2	37	c.127_126	CCDS33736.1	3																																																																																			SCN10A	-	NULL	ENSG00000185313		0.525	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3		0	63	0	CC	NM_006514		38835376	-1	tier1		no_errors	ENST00000449082	ensembl	human	known	74_37	frame_shift_del	11.59	61	8	DEL	0.041:0.001	-	-	38835376	CC	-	38835375	7	5	138	1	0	1	0	1	0	0	0	0	13957	864	30	0	5851	0	SCN10A	3	38835375	Frame_Shift_Del	DEL	CC	TCGA-Q9-A6FW-01A-31D-A31U-09	26359825	38835375	159187055	55	35217	128	2									
SCN10A	6336	genome.wustl.edu	37	chr3	38835377	38835377	+	Missense_Mutation	SNP	C	C	T																															cttcttggtccttctgctccCtatgcttctctctggctttc																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:38835377C>T	ENST00000449082.2	-	1	124	c.125G>A	c.(124-126)aGg>aAg	p.R42K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	42					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)	CTTCTGCTCCCTATGCTTCTC	0.522																																																	0													167	171	169					3																	38835377		2203	4300	6503	SO:0001583	missense	0			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.125G>A	3.37:g.38835377C>T	ENSP00000390600:p.Arg42Lys		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.R42K	ENST00000449082.2	37	c.125	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	C	1.365	-0.587768	0.03799	.	.	ENSG00000185313	ENST00000449082	D	0.95412	-3.7	5.05	-2.09	0.07232	.	1.752560	0.02493	N	0.089656	D	0.90263	0.6955	N	0.20483	0.58	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.80881	-0.1184	10	0.49607	T	0.09	.	7.4797	0.27398	0.0:0.4606:0.1949:0.3445	.	42	Q9Y5Y9	SCNAA_HUMAN	K	42	ENSP00000390600:R42K	ENSP00000390600:R42K	R	-	2	0	SCN10A	38810381	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-3.240000	0.00544	-0.273000	0.09246	-0.251000	0.11542	AGG	SCN10A	-	NULL	ENSG00000185313		0.522	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	-	0	62	0	C	NM_006514		38835377	-1	tier1	-	no_errors	ENST00000449082	ensembl	human	known	74_37	missense	11.76	59	8	SNP	0.000	T	T	38835377	C	T	38835377	3	4	138	1	0	0	0	0	1	0	0	0	13957	681	24	3	5853	3	SCN10A	3	38835377	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	2	38835377	159187053	56	35218	128	2									
ULK4	54986	genome.wustl.edu	37	chr3	41705161	41705161	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagagcatatgctggtactGggtcaggttctaaaagaatg	12	11	12	6	0	3	2	2	0	1	2	3	2	3	2	0	3	3	4	0	3	5	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:41705161G>C	ENST00000301831.4	-	30	3470	c.3008C>G	c.(3007-3009)cCa>cGa	p.P1003R		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1003					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)		TGCTGGTACTGGGTCAGGTTC	0.378																																																	0													131	126	128					3																	41705161		1861	4099	5960	SO:0001583	missense	0			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.3008C>G	3.37:g.41705161G>C	ENSP00000301831:p.Pro1003Arg		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P1003R	ENST00000301831.4	37	c.3008	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685658	0.68157	.	.	ENSG00000168038	ENST00000301831	T	0.64085	-0.08	5.86	5.86	0.93980	Armadillo-type fold (1);	0.000000	0.64402	U	0.000006	T	0.75443	0.3850	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76545	-0.2920	10	0.87932	D	0	.	15.6865	0.77415	0.0:0.0:1.0:0.0	.	1003	Q96C45	ULK4_HUMAN	R	1003	ENSP00000301831:P1003R	ENSP00000301831:P1003R	P	-	2	0	ULK4	41680165	1.000000	0.71417	0.966000	0.40874	0.716000	0.41182	5.681000	0.68175	2.781000	0.95711	0.650000	0.86243	CCA	ULK4	-	superfamily_ARM-type_fold	ENSG00000168038		0.378	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	-	0	54	0	G	XM_929989		41705161	-1	tier1	-	no_errors	ENST00000301831	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.987	C	C	41705161	G	C	41705161	3	2	138	1	0	0	0	0	1	0	0	0	17027	1348	47	5	851	5	ULK4	3	41705161	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	2869784	41705161	156317269	57	35219											
CCR1	1230	genome.wustl.edu	37	chr3	46245394	46245394	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcaaggcaaacacggcGtggacgatggccaggtacct	10	4	14	13	4	0	0	0	0	0	0	0	2	0	1	3	5	2	3	3	5	3	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:46245394G>A	ENST00000296140.3	-	2	536	c.411C>T	c.(409-411)caC>caT	p.H137H	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	137					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAAACACGGCGTGGACGATGG	0.517																																																	0													81	77	78					3																	46245394		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.411C>T	3.37:g.46245394G>A			Q86VA9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt	p.H137	ENST00000296140.3	37	c.411	CCDS2737.1	3																																																																																			CCR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt	ENSG00000163823		0.517	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2	-	0	40	0	G	NM_001295		46245394	-1	tier1	-	no_errors	ENST00000296140	ensembl	human	known	74_37	silent	24.24	25	8	SNP	0.104	A	A	46245394	G	A	46245394	2	1	138	1	0	0	0	0	0	0	0	1	2946	1136	40	1		1	CCR1	3	46245394	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	4540233	46245394	151777036	58	35220											
DNAH1	25981	genome.wustl.edu	37	chr3	52418830	52418830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgtgtacatccaccagtCggtgtccaagaagtgcatcg	9	10	11	11	2	0	1	0	0	0	1	4	1	2	1	3	1	2	2	3	1	3	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:52418830C>T	ENST00000420323.2	+	53	8612	c.8351C>T	c.(8350-8352)tCg>tTg	p.S2784L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2784	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)		ATCCACCAGTCGGTGTCCAAG	0.577											OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													43	47	46					3																	52418830		2069	4191	6260	SO:0001583	missense	0			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.8351C>T	3.37:g.52418830C>T	ENSP00000401514:p.Ser2784Leu	984	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.S2784L	ENST00000420323.2	37	c.8351	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756763	0.49362	.	.	ENSG00000114841	ENST00000420323	T	0.40225	1.04	4.38	4.38	0.52667	.	0.357177	0.20582	N	0.089505	T	0.65396	0.2687	M	0.85197	2.74	0.42178	D	0.991675	D	0.76494	0.999	D	0.66351	0.943	T	0.71866	-0.4463	10	0.72032	D	0.01	.	13.1979	0.59749	0.0:0.7886:0.2114:0.0	.	2784	C9JXH6	.	L	2784	ENSP00000401514:S2784L	ENSP00000401514:S2784L	S	+	2	0	DNAH1	52393870	0.942000	0.31987	0.951000	0.38953	0.034000	0.12701	1.824000	0.39072	2.287000	0.76781	0.561000	0.74099	TCG	DNAH1	-	superfamily_P-loop_NTPase	ENSG00000114841		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0	35	0	C	NM_015512		52418830	1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.972	T	T	52418830	C	T	52418830	3	4	138	1	0	0	0	0	1	0	0	0	4611	893	31	1	8557	1	DNAH1	3	52418830	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	6173436	52418830	145603600	59	35221											
NEK4	6787	genome.wustl.edu	37	chr3	52786006	52786006	+	Frame_Shift_Del	DEL	T	T	-																															gaggcttcactggttcattcTtttccccagtgacaatgtca																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:52786006delT	ENST00000233027.5	-	7	1512	c.1310delA	c.(1309-1311)aagfs	p.K437fs	NEK4_ENST00000383721.4_Frame_Shift_Del_p.K437fs|NEK4_ENST00000535191.1_Frame_Shift_Del_p.K348fs	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	437					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TGGTTCATTCTTTTCCCCAGT	0.478																																																	0													172	170	171					3																	52786006		2203	4300	6503	SO:0001589	frameshift_variant	0			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1310delA	3.37:g.52786006delT	ENSP00000233027:p.Lys437fs		A5YM70|B2R633|B7Z200|Q6P576	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K437fs	ENST00000233027.5	37	c.1310	CCDS2863.1	3																																																																																			NEK4	-	NULL	ENSG00000114904		0.478	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2		0	39	0	T	NM_003157		52786006	-1	tier1		no_errors	ENST00000233027	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	0.001	-	-	52786006	T	-	52786006	7	5	138	1	0	1	0	1	0	0	0	0	10365	1609	56	0	1255	0	NEK4	3	52786006	Frame_Shift_Del	DEL	T	TCGA-Q9-A6FW-01A-31D-A31U-09	367176	52786006	145236424	60	35222											
IGSF11	152404	genome.wustl.edu	37	chr3	118824023	118824023	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagttccaccagagcaaaAgttccaccagagacatttat	15	8	7	11	0	0	2	0	0	0	2	2	3	2	2	4	0	2	4	4	0	3	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:118824023A>C	ENST00000425327.2	-	2	285	c.17T>G	c.(16-18)cTt>cGt	p.L6R	IGSF11_ENST00000354673.2_Missense_Mutation_p.L6R|IGSF11_ENST00000441144.2_Missense_Mutation_p.L6R			Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	11					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCAGAGCAAAAGTTCCACCAG	0.363																																																	0													112	108	110					3																	118824023		2203	4300	6503	SO:0001583	missense	0			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000425327.2:c.17T>G	3.37:g.118824023A>C	ENSP00000406092:p.Leu6Arg		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L6R	ENST00000425327.2	37	c.17	CCDS2983.1	3	.	.	.	.	.	.	.	.	.	.	A	7.795	0.712305	0.15306	.	.	ENSG00000144847	ENST00000425327;ENST00000354673;ENST00000441144	T;T;D	0.84516	-1.16;-1.16;-1.86	2.18	0.928	0.19443	.	.	.	.	.	T	0.73908	0.3647	.	.	.	0.09310	N	1	B;B	0.20780	0.048;0.022	B;B	0.14023	0.01;0.005	T	0.61192	-0.7112	8	0.48119	T	0.1	.	4.1699	0.10324	0.6373:0.0:0.0:0.3627	.	6;6	Q5DX21-3;Q5DX21-2	.;.	R	6	ENSP00000406092:L6R;ENSP00000346700:L6R;ENSP00000401240:L6R	ENSP00000346700:L6R	L	-	2	0	IGSF11	120306713	0.029000	0.19370	0.010000	0.14722	0.054000	0.15201	0.975000	0.29449	0.233000	0.21120	0.379000	0.24179	CTT	IGSF11	-	NULL	ENSG00000144847		0.363	IGSF11-001	KNOWN	basic|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355074.2	-	0	49	0	A			118824023	-1	tier1	-	no_errors	ENST00000354673	ensembl	human	known	74_37	missense	31.71	28	13	SNP	0.023	C	C	118824023	A	C	118824023	3	2	138	1	0	0	0	0	1	0	0	0	7625	72	3	4	1359	4	IGSF11	3	118824023	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	66038017	118824023	79198407	61	35223											
COL6A5	256076	genome.wustl.edu	37	chr3	130098739	130098739	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctaacaatacccagttagaAgaaatagtgtcttatcctcc	14	11	6	10	0	1	2	0	0	1	2	3	2	3	2	3	0	2	2	3	0	8	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:130098739A>C	ENST00000432398.2	+	4	1640	c.1146A>C	c.(1144-1146)gaA>gaC	p.E382D	COL6A5_ENST00000265379.6_Missense_Mutation_p.E382D	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	382	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						CCCAGTTAGAAGAAATAGTGT	0.443																																																	0													89	74	79					3																	130098739		692	1591	2283	SO:0001583	missense	0			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.1146A>C	3.37:g.130098739A>C	ENSP00000390895:p.Glu382Asp		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E382D	ENST00000432398.2	37	c.1146		3	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669877	0.47677	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.83837	-1.77;-1.77	5.34	2.8	0.32819	.	.	.	.	.	T	0.74688	0.3749	L	0.43598	1.365	0.20489	N	0.999892	B	0.24483	0.104	B	0.32928	0.155	T	0.63193	-0.6692	9	0.39692	T	0.17	.	1.5363	0.02546	0.5121:0.1451:0.0866:0.2562	.	382	A8TX70-2	.	D	382	ENSP00000390895:E382D;ENSP00000265379:E382D	ENSP00000265379:E382D	E	+	3	2	COL6A5	131581429	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-0.455000	0.06762	0.868000	0.35678	0.374000	0.22700	GAA	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.443	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	32	0	A	NM_153264		130098739	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	19.51	33	8	SNP	0.987	C	C	130098739	A	C	130098739	3	2	138	1	0	0	0	0	1	0	0	0	3709	69	3	4	1156	4	COL6A5	3	130098739	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	11274716	130098739	67923691	62	35224											
ASTE1	28990	genome.wustl.edu	37	chr3	130733046	130733047	+	Frame_Shift_Ins	INS	-	-	T																															ggtattctgtttcttctgccINStttttttttttgaatttgat																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:130733046_130733047insT	ENST00000264992.3	-	6	2335_2336	c.1894_1895insA	c.(1894-1896)aggfs	p.R632fs	ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R657fs|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000328560.8_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTCTTCTGCCTTTTTTTTTTT	0.406																																																	2	Deletion - Frameshift(2)	ovary(2)																																								SO:0001589	frameshift_variant	0			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.1895dupA	3.37:g.130733057_130733057dupT	ENSP00000264992:p.Arg632fs		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Ins	INS	pfam_XPG_DNA_repair_N	p.R632fs	ENST00000264992.3	37	c.1895_1894	CCDS3068.1	3																																																																																			ASTE1	-	NULL	ENSG00000034533		0.406	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1		0	18	0	-	NM_014065		130733047	-1	tier1		no_errors	ENST00000264992	ensembl	human	known	74_37	frame_shift_ins	18.18	18	4	INS	0.003:0.014	T	T	130733047	-	T	130733046	7	5	138	1	0	1	1	0	0	0	0	0	1063	681	24	0	148	0	ASTE1	3	130733046	Frame_Shift_Ins	INS	-	TCGA-Q9-A6FW-01A-31D-A31U-09	634307	130733046	67289384	63	35225											
TXNDC6	347736	genome.wustl.edu	37	chr3	138038346	138038346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgcagaaggtccaggcCgacctcgatcctcatcttct	10	9	9	13	2	3	1	1	0	2	1	6	3	5	1	4	2	1	1	4	2	2	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:138038346C>T	ENST00000333911.3	-	3	196	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	NME9_ENST00000341790.5_Missense_Mutation_p.G57S|NME9_ENST00000536478.1_Missense_Mutation_p.G35S|NME9_ENST00000317876.4_Missense_Mutation_p.G35S|NME9_ENST00000484930.1_Missense_Mutation_p.G57S|NME9_ENST00000383180.2_Missense_Mutation_p.G35S			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	57	Thioredoxin.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										AGGTCCAGGCCGACCTCGATC	0.448																																																	0													74	66	69					3																	138038346		2203	4300	6503	SO:0001583	missense	0			AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"thioredoxin domain containing 6", "NME gene family member 9", "NME family member 9"	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.169G>A	3.37:g.138038346C>T	ENSP00000335444:p.Gly57Ser		Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.G57S	ENST00000333911.3	37	c.169		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.952068|3.952068	0.73787|0.73787	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911;ENST00000475751|ENST00000474690	T;T;T;T;T;T;T|.	0.46451|.	4.13;4.13;0.87;0.87;4.13;4.13;4.13|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Thioredoxin domain (1);Thioredoxin-like fold (2);|.	0.057482|.	0.64402|.	D|.	0.000002|.	T|T	0.49287|0.49287	0.1548|0.1548	N|N	0.13140|0.13140	0.3|0.3	0.39235|0.39235	D|D	0.963754|0.963754	D;D;D|.	0.76494|.	0.999;0.999;0.992|.	P;D;P|.	0.66196|.	0.901;0.942;0.761|.	T|T	0.48948|0.48948	-0.8989|-0.8989	10|5	0.40728|.	T|.	0.16|.	-16.0982|-16.0982	16.7334|16.7334	0.85440|0.85440	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	57;57;35|.	Q86XW9-3;Q86XW9;Q86XW9-2|.	.;TXND6_HUMAN;.|.	S|Q	35;35;57;57;35;57;57|26	ENSP00000372667:G35S;ENSP00000321929:G35S;ENSP00000419882:G57S;ENSP00000341084:G57S;ENSP00000440143:G35S;ENSP00000335444:G57S;ENSP00000419147:G57S|.	ENSP00000321929:G35S|.	G|R	-|-	1|2	0|0	TXNDC6|TXNDC6	139521036|139521036	0.998000|0.998000	0.40836|0.40836	0.905000|0.905000	0.35620|0.35620	0.949000|0.949000	0.60115|0.60115	4.103000|4.103000	0.57783|0.57783	2.560000|2.560000	0.86352|0.86352	0.484000|0.484000	0.47621|0.47621	GGC|CGG	NME9	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000181322		0.448	NME9-003	KNOWN	basic|appris_principal	protein_coding	NME9	HGNC	protein_coding	OTTHUMT00000357583.1	-	0	39	0	C	NM_178130		138038346	-1	tier1	-	no_errors	ENST00000333911	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.960	T	T	138038346	C	T	138038346	3	4	138	1	0	0	0	0	1	0	0	0	16849	652	23	1	720	1	TXNDC6	3	138038346	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	7305300	138038346	59984084	64	35226											
MME	4311	genome.wustl.edu	37	chr3	154898237	154898237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatccagaaaagaagtgcCgggtttggtgatcttcaaaa	14	10	11	6	1	2	4	1	2	1	2	3	4	3	4	2	2	1	1	2	2	6	2	rs141665432	byFrequency	TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:154898237C>T	ENST00000460393.1	+	23	2362	c.2242C>T	c.(2242-2244)Cgg>Tgg	p.R748W	MME_ENST00000492661.1_Missense_Mutation_p.R748W|MME_ENST00000493237.1_Missense_Mutation_p.R748W|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.R748W|MME_ENST00000462745.1_Missense_Mutation_p.R748W	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	748					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)	AAAGAAGTGCCGGGTTTGGTG	0.438													C|||	2	0.000399361	0	0	5008	,	,		17786	0		0	False		,,,				2504	0.002																0								C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	86	91	90		2242,2242,2242,2242	3.8	0.7	3	dbSNP_134	90	0,8600		0,0,4300	yes	missense,missense,missense,missense	MME	NM_000902.3,NM_007287.2,NM_007288.2,NM_007289.2	101,101,101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	748/751,748/751,748/751,748/751	154898237	2,13004	2203	4300	6503	SO:0001583	missense	0				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.2242C>T	3.37:g.154898237C>T	ENSP00000418525:p.Arg748Trp		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R748W	ENST00000460393.1	37	c.2242	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051988	0.75960	4.54E-4	0.0	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89	5.65	3.85	0.44370	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.187842	0.47093	D	0.000260	D	0.96629	0.8900	H	0.94542	3.55	0.50039	D	0.999843	D	0.89917	1.0	D	0.97110	1.0	D	0.95875	0.8894	10	0.87932	D	0	-15.156	9.3556	0.38164	0.1434:0.7841:0.0:0.0725	.	748	P08473	NEP_HUMAN	W	748	ENSP00000420389:R748W;ENSP00000418525:R748W;ENSP00000419653:R748W;ENSP00000417079:R748W;ENSP00000353679:R748W	ENSP00000353679:R748W	R	+	1	2	MME	156380931	1.000000	0.71417	0.704000	0.30370	0.881000	0.50899	4.055000	0.57441	0.734000	0.32515	0.650000	0.86243	CGG	MME	-	pfam_Peptidase_M13_C	ENSG00000196549		0.438	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	-	0	28	0	C	NM_000902		154898237	1	tier1	rs141665432	no_errors	ENST00000360490	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.998	T	T	154898237	C	T	154898237	3	4	138	1	0	0	0	0	1	0	0	0	9683	643	23	1	2328	1	MME	3	154898237	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	16859891	154898237	43124193	65	35227											
KLHL6	89857	genome.wustl.edu	37	chr3	183273292	183273292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaggagagtcccgcgtcGtcaaatttgaccttttcccc	9	12	8	12	3	1	2	1	1	0	1	4	3	3	2	4	1	0	0	4	1	2	4	rs201171041		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:183273292G>A	ENST00000341319.3	-	1	185	c.150C>T	c.(148-150)gaC>gaT	p.D50D		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	50					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)			GTCCCGCGTCGTCAAATTTGA	0.483																																																	0													158	165	162					3																	183273292		2203	4300	6503	SO:0001819	synonymous_variant	0			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.150C>T	3.37:g.183273292G>A			B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D50	ENST00000341319.3	37	c.150	CCDS3245.2	3																																																																																			KLHL6	-	superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin	ENSG00000172578		0.483	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	-	0	42	0	G	NM_130446		183273292	-1	tier1	rs201171041	no_errors	ENST00000341319	ensembl	human	known	74_37	silent	16.22	31	6	SNP	0.976	A	A	183273292	G	A	183273292	2	1	138	1	0	0	0	0	0	0	0	1	8420	1136	40	1		1	KLHL6	3	183273292	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	28375055	183273292	14749138	66	35228											
TNK2	10188	genome.wustl.edu	37	chr3	195593867	195593867	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctctgggccgcagaccCagcccgaagagctgctccac	7	5	10	19	2	1	2	0	0	1	2	3	3	3	2	6	1	3	3	6	1	1	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr3:195593867C>A	ENST00000333602.6	-	14	3620	c.3003G>T	c.(3001-3003)ctG>ctT	p.L1001L	TNK2_ENST00000392400.1_Silent_p.L1001L|TNK2_ENST00000428187.1_Silent_p.L1003L|TNK2_ENST00000381916.2_Silent_p.L1049L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1001				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)	GCCGCAGACCCAGCCCGAAGA	0.697																																																	0													29	33	32					3																	195593867		2201	4300	6501	SO:0001819	synonymous_variant	0			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.3003G>T	3.37:g.195593867C>A			Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.L1049	ENST00000333602.6	37	c.3147	CCDS33928.1	3																																																																																			TNK2	-	superfamily_UBA-like	ENSG00000061938		0.697	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3		0	112	0	C	NM_005781		195593867	-1			no_errors	ENST00000381916	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	A	A	195593867	C	A	195593867	2	1	138	1	0	0	0	0	0	0	0	1	16365	581	21	3		3	TNK2	3	195593867	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	12320575	195593867	2428563	67	35229											
SLC26A1	10861	genome.wustl.edu	37	chr4	983911	983911	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcgcggctagcagcacCgccaggcacaccgtgctggt	6	7	12	16	4	0	0	0	0	0	0	2	0	1	0	4	3	3	5	4	3	1	2	rs139361937		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr4:983911C>T	ENST00000361661.2	-	4	1193	c.816G>A	c.(814-816)gcG>gcA	p.A272A	IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Silent_p.A272A|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	272					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)			CTAGCAGCACCGCCAGGCACA	0.697																																																	0								C	,,,	0,4352		0,0,2176	22	17	19		,816,,816	-9.6	0	4	dbSNP_134	19	1,8549		0,1,4274	no	intron,coding-synonymous,intron,coding-synonymous	IDUA,SLC26A1	NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2	,,,	0,1,6450	TT,TC,CC		0.0117,0.0,0.0078	,,,	,272/702,,272/702	983911	1,12901	2176	4275	6451	SO:0001819	synonymous_variant	0			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.816G>A	4.37:g.983911C>T			A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.A272	ENST00000361661.2	37	c.816	CCDS33934.1	4																																																																																			SLC26A1	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000145217		0.697	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A1	HGNC	protein_coding	OTTHUMT00000358783.1	-	0	27	0	C	NM_022042, NM_134425		983911	-1	tier1	rs139361937	no_errors	ENST00000361661	ensembl	human	known	74_37	silent	28.00	18	7	SNP	0.000	T	T	983911	C	T	983911	2	4	138	1	0	0	0	0	0	0	0	1	14559	639	23	1		1	SLC26A1	4	983911	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09		983911	190170365	68	35230											
RGS12	6002	genome.wustl.edu	37	chr4	3318886	3318887	+	In_Frame_Ins	INS	-	-	GGG																															agcctggcccaggaggaggaINSgggcgccctgcggacttcct																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr4:3318886_3318887insGGG	ENST00000344733.5	+	2	1893_1894	c.989_990insGGG	c.(988-993)gagggc>gaGGGgggc	p.331_332insG	RGS12_ENST00000336727.3_In_Frame_Ins_p.331_332insG|RGS12_ENST00000382788.3_In_Frame_Ins_p.331_332insG|RGS12_ENST00000543385.1_In_Frame_Ins_p.331_332insG	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	331	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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)		CAGGAGGAGGAGGGCGCCCTGC	0.599																																																	0																																										SO:0001652	inframe_insertion	0			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.990_992dupGGG	4.37:g.3318887_3318889dupGGG	ENSP00000339381:p.Gly331_Gly331dup		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	In_Frame_Ins	INS	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.332in_frame_insG	ENST00000344733.5	37	c.989_990	CCDS3366.1	4																																																																																			RGS12	-	smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000159788		0.599	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1		0	38	0	-	NM_002926		3318887	1	tier1		no_errors	ENST00000344733	ensembl	human	known	74_37	in_frame_ins	17.50	33	7	INS	0.251:0.143	GGG	GGG	3318887	-	GGG	3318886	7	5	138	1	0	1	1	0	0	0	0	0	13340	304	11	0	991	0	RGS12	4	3318886	In_Frame_Ins	INS	-	TCGA-Q9-A6FW-01A-31D-A31U-09	2334975	3318886	187835390	69	35231											
GABRB1	2560	genome.wustl.edu	37	chr4	47163405	47163405	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctactttctgaatgacaAgaaatcatttgtgcatgggg	12	12	9	8	0	2	3	1	2	1	1	2	3	2	3	1	2	2	1	1	2	4	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr4:47163405A>C	ENST00000295454.3	+	4	672	c.380A>C	c.(379-381)aAg>aCg	p.K127T	GABRB1_ENST00000538619.1_Missense_Mutation_p.K57T	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	127					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)	CTGAATGACAAGAAATCATTT	0.443																																																	0													164	157	159					4																	47163405		2203	4300	6503	SO:0001583	missense	0				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.380A>C	4.37:g.47163405A>C	ENSP00000295454:p.Lys127Thr		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.K127T	ENST00000295454.3	37	c.380	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	A	25.1	4.598703	0.87055	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	T;T;T	0.80994	-1.44;-1.44;-1.44	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.073210	0.53938	D	0.000054	D	0.92123	0.7503	H	0.94620	3.56	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.967;0.997	D	0.94105	0.7365	10	0.87932	D	0	-16.9901	14.0523	0.64745	1.0:0.0:0.0:0.0	.	57;127	F5GXV5;P18505	.;GBRB1_HUMAN	T	94;127;57	ENSP00000426753:K94T;ENSP00000295454:K127T;ENSP00000440330:K57T	ENSP00000295454:K127T	K	+	2	0	GABRB1	46858162	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.109000	0.64355	0.528000	0.53228	AAG	GABRB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000163288		0.443	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	-	0	64	0	A			47163405	1	tier1	-	no_errors	ENST00000295454	ensembl	human	known	74_37	missense	20.24	67	17	SNP	1.000	C	C	47163405	A	C	47163405	3	2	138	1	0	0	0	0	1	0	0	0	6190	72	3	4	394	4	GABRB1	4	47163405	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	43844519	47163405	143990871	70	35232											
CEP135	9662	genome.wustl.edu	37	chr4	56831979	56831981	+	In_Frame_Del	DEL	AAG	AAG	-																															acagcagttggaaagacataAagaagaagtgcttgagactg																								rs376310237|rs537009435|rs374626758	byFrequency	TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr4:56831979_56831981delAAG	ENST00000257287.4	+	8	1122_1124	c.998_1000delAAG	c.(997-1002)aaagaa>aaa	p.E335del		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	335					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)					GAAAGACATAAAGAAGAAGTGCT	0.369														5	0.000998403	8e-04	0	5008	,	,		17263	0		0.003	False		,,,				2504	0.001																0										0,4266		0,0,2133						5.7	1			96	22,8232		0,22,4105	no	coding	CEP135	NM_025009.3		0,22,6238	A1A1,A1R,RR		0.2665,0.0,0.1757				22,12498				SO:0001651	inframe_deletion	0			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.998_1000delAAG	4.37:g.56831985_56831987delAAG	ENSP00000257287:p.Glu335del		B2RMY0|O75130|Q58F25|Q9H8H7	In_Frame_Del	DEL	superfamily_Prefoldin,superfamily_EB1_C	p.E335in_frame_del	ENST00000257287.4	37	c.998_1000	CCDS33986.1	4																																																																																			CEP135	-	NULL	ENSG00000174799		0.369	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2		0	29	0	AAG	NM_025009		56831981	1	tier1		no_errors	ENST00000257287	ensembl	human	known	74_37	in_frame_del	22.22	14	4	DEL	1.000:1.000:1.000	-	-	56831981	AAG	-	56831979	7	5	138	1	0	1	0	1	0	0	0	0	3254	14	1	0	1024	0	CEP135	4	56831979	In_Frame_Del	DEL	AAG	TCGA-Q9-A6FW-01A-31D-A31U-09	9668574	56831979	134322297	71	35233											
THAP9	79725	genome.wustl.edu	37	chr4	83838912	83838912	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttacgtttaattaacaAtctgtttgacatctttaata	12	21	3	5	1	2	1	0	1	2	0	2	1	2	1	0	0	2	2	0	0	6	10			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr4:83838912A>T	ENST00000302236.5	+	5	1598	c.1547A>T	c.(1546-1548)aAt>aTt	p.N516I	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	516					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)				TTAATTAACAATCTGTTTGAC	0.353																																																	0													130	136	134					4																	83838912		2203	4300	6503	SO:0001583	missense	0			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.1547A>T	4.37:g.83838912A>T	ENSP00000305533:p.Asn516Ile		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.N516I	ENST00000302236.5	37	c.1547	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	A	7.199	0.593059	0.13875	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.91068	-2.78	3.87	2.7	0.31948	.	0.379360	0.22834	N	0.055072	D	0.86506	0.5949	L	0.55990	1.75	0.41988	D	0.990831	P	0.45348	0.856	P	0.44477	0.451	T	0.82971	-0.0192	10	0.49607	T	0.09	-17.162	3.4138	0.07368	0.5837:0.205:0.2113:0.0	.	516	Q9H5L6	THAP9_HUMAN	I	516	ENSP00000305533:N516I	ENSP00000305533:N516I	N	+	2	0	THAP9	84057936	0.972000	0.33761	0.991000	0.47740	0.247000	0.25773	0.134000	0.15932	0.848000	0.35191	0.533000	0.62120	AAT	THAP9	-	NULL	ENSG00000168152		0.353	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1		0	74	0	A	NM_024672		83838912	1			no_errors	ENST00000302236	ensembl	human	known	74_37	missense	5.13	73	4	SNP	0.766	T	T	83838912	A	T	83838912	3	4	138	1	0	0	0	0	1	0	0	0	15898	101	4	5	1565	5	THAP9	4	83838912	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	27006933	83838912	107315364	72	35234											
RAP1GDS1	5910	genome.wustl.edu	37	chr4	99355168	99355168	+	Missense_Mutation	SNP	A	A	G	1	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	gtgaacatgtaataatgcagAatgaagctcttgttgctttg	12	14	10	5	0	1	3	0	2	1	1	1	3	1	3	0	0	4	5	0	0	5	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr4:99355168A>G	ENST00000408927.3	+	13	1635	c.1522A>G	c.(1522-1524)Aat>Gat	p.N508D	RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.N508D|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.N417D|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.N459D|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.N509D|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.N460D	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	508					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)		AATAATGCAGAATGAAGCTCT	0.353			T	NUP98	T-ALL																																			Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	0													115	111	112					4																	99355168		1908	4124	6032	SO:0001583	missense	0				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.1522A>G	4.37:g.99355168A>G	ENSP00000386153:p.Asn508Asp		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.N509D	ENST00000408927.3	37	c.1525	CCDS43253.1	4	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702775	0.88924	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.92	5.92	0.95590	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.78622	0.4312	L	0.61218	1.895	0.80722	D	1	D;B;B;P;P;D	0.89917	1.0;0.116;0.141;0.734;0.885;0.999	D;B;B;P;P;D	0.87578	0.998;0.075;0.122;0.449;0.637;0.956	T	0.74368	-0.3688	10	0.18276	T	0.48	-17.1937	16.3533	0.83225	1.0:0.0:0.0:0.0	.	417;459;460;508;509;508	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	D	460;417;508;508;459;509	ENSP00000369503:N460D;ENSP00000264572:N417D;ENSP00000386153:N508D;ENSP00000407157:N508D;ENSP00000386223:N459D;ENSP00000340454:N509D	ENSP00000264572:N417D	N	+	1	0	RAP1GDS1	99574191	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.350000	0.90069	2.257000	0.74773	0.454000	0.30748	AAT	RAP1GDS1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000138698		0.353	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	HGNC	protein_coding	OTTHUMT00000363273.2	-	0	85	0	A	NM_001100426		99355168	1	tier1	-	no_errors	ENST00000339360	ensembl	human	known	74_37	missense	37.14	44	26	SNP	1.000	G	G	99355168	A	G	99355168	3	3	138	1	0	0	0	0	1	0	0	0	13084	246	9	4	1575	4	RAP1GDS1	4	99355168	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	15516256	99355168	91799108	73	35235											
MTTP	4547	genome.wustl.edu	37	chr4	100540256	100540259	+	Splice_Site	DEL	GTAA	GTAA	-																															aaaacccgagtgaaaaatagGtaagtgtttatgcattatac																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	GTAA	GTAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr4:100540256_100540259delGTAA	ENST00000265517.5	+	16	2545		c.e16+1		RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Splice_Site|MTTP_ENST00000457717.1_Splice_Site			P55157	MTP_HUMAN	microsomal triglyceride transfer protein						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)	TGAAAAATAGGTAAGTGTTTATGC	0.338																																																	0																																										SO:0001630	splice_region_variant	0				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.2342+1GTAA>-	4.37:g.100540256_100540259delGTAA			A8K428|Q08AM4|Q6P5T3	Splice_Site	DEL	-	e16+1	ENST00000265517.5	37	c.2342+1_2342+1	CCDS3651.1	4																																																																																			MTTP	-	-	ENSG00000138823		0.338	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3		0	64	0	GTAA		Intron	100540259	1	tier1		no_errors	ENST00000265517	ensembl	human	known	74_37	splice_site_del	9.38	58	6	DEL	1.000:1.000:1.000:1.000	-	-	100540259	GTAA	-	100540256	8	5	138	1	0	1	0	1	0	0	1	0	10002	1275	44	0	2405	0	MTTP	4	100540256	Splice_Site	DEL	GTAA	TCGA-Q9-A6FW-01A-31D-A31U-09	1185088	100540256	90614020	74	35236											
GUCY1A3	2982	genome.wustl.edu	37	chr4	156638421	156638421	+	Silent	SNP	T	T	C	0	1	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	aagatgatggagctctctgaTgaagttatgtctccccatgg	10	12	11	8	0	2	4	0	3	2	1	4	5	2	5	2	2	1	2	2	2	3	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr4:156638421T>C	ENST00000296518.7	+	8	1892	c.1683T>C	c.(1681-1683)gaT>gaC	p.D561D	GUCY1A3_ENST00000455639.2_Silent_p.D561D|GUCY1A3_ENST00000511108.1_Silent_p.D561D|GUCY1A3_ENST00000393832.3_Silent_p.D303D|GUCY1A3_ENST00000513574.1_Silent_p.D561D|GUCY1A3_ENST00000511507.1_Silent_p.D561D|GUCY1A3_ENST00000506455.1_Silent_p.D561D			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	561	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)		AGCTCTCTGATGAAGTTATGT	0.438																																																	0													128	117	121					4																	156638421		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1683T>C	4.37:g.156638421T>C			D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D561	ENST00000296518.7	37	c.1683	CCDS34085.1	4																																																																																			GUCY1A3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000164116		0.438	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	-	0	56	0	T			156638421	1	tier1	-	no_errors	ENST00000296518	ensembl	human	known	74_37	silent	20.83	38	10	SNP	0.993	C	C	156638421	T	C	156638421	2	2	138	1	0	0	0	0	0	0	0	1	6921	1461	51	4		4	GUCY1A3	4	156638421	Silent	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	56098165	156638421	34515855	75	35237											
FSTL5	56884	genome.wustl.edu	37	chr4	162402181	162402181	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attattcatacctgaacaacTttttgggactgcacatcaac	13	13	5	10	0	2	1	2	1	0	0	2	2	2	2	1	1	5	1	1	1	5	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr4:162402181T>A	ENST00000306100.5	-	13	2035	c.1599A>T	c.(1597-1599)aaA>aaT	p.K533N	FSTL5_ENST00000427802.2_Missense_Mutation_p.K523N|FSTL5_ENST00000379164.4_Missense_Mutation_p.K532N|FSTL5_ENST00000536695.1_Missense_Mutation_p.K532N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	533						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.K533N(1)		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)		CCTGAACAACTTTTTGGGACT	0.333																																																	1	Substitution - Missense(1)	ovary(1)																																								SO:0001583	missense	0			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.1599A>T	4.37:g.162402181T>A	ENSP00000305334:p.Lys533Asn		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.K533N	ENST00000306100.5	37	c.1599	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	T	18.98	3.738184	0.69304	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.8	1.96	0.26148	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	M	0.76574	2.34	0.58432	D	0.999994	D;D;D	0.69078	0.997;0.997;0.994	P;P;P	0.62382	0.879;0.901;0.829	T	0.35500	-0.9786	10	0.49607	T	0.09	.	9.1795	0.37131	0.0:0.208:0.0:0.792	.	523;532;533	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	533;532;523;532	ENSP00000305334:K533N;ENSP00000368462:K532N;ENSP00000389270:K523N;ENSP00000440409:K532N	ENSP00000305334:K533N	K	-	3	2	FSTL5	162621631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.907000	0.28531	0.111000	0.17947	0.528000	0.53228	AAA	FSTL5	-	NULL	ENSG00000168843		0.333	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2		0	36	0	T	NM_020116		162402181	-1			no_errors	ENST00000306100	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	A	A	162402181	T	A	162402181	3	1	138	1	0	0	0	0	1	0	0	0	6104	1606	56	5	960	5	FSTL5	4	162402181	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	5763760	162402181	28752095	76	35238											
TRIM60	166655	genome.wustl.edu	37	chr4	165961334	165961334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgggcacaacttctgtcGctcctgcctcagtgtatcct	5	13	9	14	1	2	0	1	0	1	0	5	0	4	0	3	1	2	3	3	1	2	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr4:165961334G>A	ENST00000512596.1	+	3	326	c.110G>A	c.(109-111)cGc>cAc	p.R37H	TRIM60_ENST00000508504.1_Missense_Mutation_p.R37H|TRIM60_ENST00000341062.5_Missense_Mutation_p.R37H	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	37						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AACTTCTGTCGCTCCTGCCTC	0.522																																																	0													156	137	144					4																	165961334		2203	4300	6503	SO:0001583	missense	0			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21162	protein-coding gene	gene with protein product			"ring finger protein 129", "tripartite motif-containing 60"	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.110G>A	4.37:g.165961334G>A	ENSP00000421142:p.Arg37His		Q8NA35	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R37H	ENST00000512596.1	37	c.110	CCDS3808.1	4	.	.	.	.	.	.	.	.	.	.	g	3.533	-0.095366	0.07010	.	.	ENSG00000176979	ENST00000512596;ENST00000507119;ENST00000508504;ENST00000341062	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	2.34	-3.8	0.04307	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	2.215630	0.04518	N	0.384083	T	0.07458	0.0188	L	0.60845	1.875	0.09310	N	1	B	0.27416	0.178	B	0.21708	0.036	T	0.36138	-0.9760	10	0.15066	T	0.55	.	3.2547	0.06827	0.3407:0.0:0.2189:0.4404	.	37	Q495X7	TRI60_HUMAN	H	37	ENSP00000421142:R37H;ENSP00000421784:R37H;ENSP00000426496:R37H;ENSP00000343765:R37H	ENSP00000343765:R37H	R	+	2	0	TRIM60	166180784	0.000000	0.05858	0.000000	0.03702	0.315000	0.28087	-1.465000	0.02357	-1.189000	0.02702	-0.150000	0.13652	CGC	TRIM60	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000176979		0.522	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM60	HGNC	protein_coding	OTTHUMT00000364325.1	-	0	67	0	G	NM_152620		165961334	1	tier1	-	no_errors	ENST00000341062	ensembl	human	known	74_37	missense	13.56	51	8	SNP	0.000	A	A	165961334	G	A	165961334	3	1	138	1	0	0	0	0	1	0	0	0	16583	1087	38	1	112	1	TRIM60	4	165961334	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	3559153	165961334	25192942	77	35239											
GPM6A	2823	genome.wustl.edu	37	chr4	176594834	176594834	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagagaactaacatacccaAgcgctcacacatctgccaca	15	6	6	14	1	2	1	1	0	1	1	2	2	2	1	2	0	5	2	2	0	5	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr4:176594834A>G	ENST00000280187.7	-	4	429	c.384T>C	c.(382-384)gcT>gcC	p.A128A	GPM6A_ENST00000506894.1_Silent_p.A117A|GPM6A_ENST00000515090.1_Silent_p.A121A|GPM6A_ENST00000393658.2_Silent_p.A128A	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	128					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)		AACATACCCAAGCGCTCACAC	0.388																																																	0													85	83	84					4																	176594834		2203	4300	6503	SO:0001819	synonymous_variant	0				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.384T>C	4.37:g.176594834A>G			B7Z642|E9PHI5|Q92602	Silent	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.A128	ENST00000280187.7	37	c.384	CCDS3824.1	4																																																																																			GPM6A	-	pfam_Myelin_PLP,prints_Myelin_PLP	ENSG00000150625		0.388	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPM6A	HGNC	protein_coding	OTTHUMT00000362163.1	-	0	21	0	A			176594834	-1	tier1	-	no_errors	ENST00000280187	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.998	G	G	176594834	A	G	176594834	2	3	138	1	0	0	0	0	0	0	0	1	6641	59	3	4		4	GPM6A	4	176594834	Silent	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	10633500	176594834	14559442	78	35240											
F11	2160	genome.wustl.edu	37	chr4	187197501	187197501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatcatcccggttgcttgTtttttaccttcttttcccag	4	19	5	13	1	3	0	2	0	1	0	5	0	5	0	3	1	2	3	3	1	1	8			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr4:187197501T>C	ENST00000403665.2	+	7	1064	c.712T>C	c.(712-714)Ttt>Ctt	p.F238L	F11_ENST00000264692.4_Missense_Mutation_p.F186L	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	238	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				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)	CGGTTGCTTGTTTTTTACCTT	0.413																																																	0													161	145	151					4																	187197501		2203	4300	6503	SO:0001583	missense	0			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.712T>C	4.37:g.187197501T>C	ENSP00000384957:p.Phe238Leu		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.F238L	ENST00000403665.2	37	c.712	CCDS3847.1	4	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796155	0.90453	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.88664	-2.41;-2.41	5.81	5.81	0.92471	Apple domain (3);PAN-1 domain (1);Apple-like (1);	0.000000	0.85682	D	0.000000	D	0.91710	0.7379	L	0.37850	1.14	0.50171	D	0.999852	D	0.89917	1.0	D	0.87578	0.998	D	0.92308	0.5855	10	0.56958	D	0.05	.	16.167	0.81768	0.0:0.0:0.0:1.0	.	238	P03951	FA11_HUMAN	L	238;186	ENSP00000384957:F238L;ENSP00000264692:F186L	ENSP00000264692:F186L	F	+	1	0	F11	187434495	1.000000	0.71417	0.869000	0.34112	0.765000	0.43378	5.159000	0.64923	2.210000	0.71456	0.533000	0.62120	TTT	F11	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple	ENSG00000088926		0.413	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11	HGNC	protein_coding	OTTHUMT00000317519.4	-	0	90	0	T			187197501	1	tier1	-	no_errors	ENST00000403665	ensembl	human	known	74_37	missense	15.00	51	9	SNP	0.998	C	C	187197501	T	C	187197501	3	2	138	1	0	0	0	0	1	0	0	0	5353	1725	60	4	734	4	F11	4	187197501	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	10602667	187197501	3956775	79	35241											
CCL28	56477	genome.wustl.edu	37	chr5	43381990	43381990	+	Missense_Mutation	SNP	T	T	A	0	1	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	gagttttatggccgtatgttTcgtgtttcccctgatgtgcc	4	17	11	9	2	0	1	0	1	0	0	2	2	1	1	4	1	1	4	4	1	2	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr5:43381990T>A	ENST00000361115.4	-	3	430	c.356A>T	c.(355-357)gAa>gTa	p.E119V	CCL28_ENST00000513525.1_Missense_Mutation_p.E72V	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	119					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)			kidney(3)|lung(3)|ovary(1)	7						GCCGTATGTTTCGTGTTTCCC	0.413																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)												0													323	287	299					5																	43381990		2203	4300	6503	SO:0001583	missense	0			AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"Chemokine ligands", "Endogenous ligands"	17700	protein-coding gene	gene with protein product	"CC chemokine CCL28", "mucosae-associated epithelial chemokine", "small inducible cytokine subfamily A (Cys-Cys), member 28", "small inducible cytokine A28"	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.356A>T	5.37:g.43381990T>A	ENSP00000354416:p.Glu119Val		D7RIE7	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom	p.E119V	ENST00000361115.4	37	c.356	CCDS3944.1	5	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548765	0.27652	.	.	ENSG00000151882	ENST00000361115;ENST00000513525	T;T	0.33216	1.84;1.42	5.44	-4.48	0.03515	.	1.350030	0.05206	N	0.505913	T	0.19725	0.0474	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35773	-0.9775	10	0.59425	D	0.04	0.0	5.1683	0.15098	0.2797:0.4149:0.0:0.3054	.	119	Q9NRJ3	CCL28_HUMAN	V	119;72	ENSP00000354416:E119V;ENSP00000422369:E72V	ENSP00000354416:E119V	E	-	2	0	CCL28	43417747	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.026000	0.13599	-0.644000	0.05465	-1.140000	0.01884	GAA	CCL28	-	NULL	ENSG00000151882		0.413	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL28	HGNC	protein_coding	OTTHUMT00000211631.2	-	0	161	0	T	NM_148672		43381990	-1	tier1	-	no_errors	ENST00000361115	ensembl	human	known	74_37	missense	5.05	188	10	SNP	0.000	A	A	43381990	T	A	43381990	3	1	138	1	0	0	0	0	1	0	0	0	2907	1783	62	5	31	5	CCL28	5	43381990	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09		43381990	137533270	80	35242											
DHX29	54505	genome.wustl.edu	37	chr5	54567972	54567972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacatcaggaatagtgataCccgtctctgcaatattggtt	12	12	8	9	1	2	1	1	1	1	0	3	2	2	2	1	2	3	2	1	2	6	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr5:54567972C>T	ENST00000251636.5	-	18	2955	c.2807G>A	c.(2806-2808)gGt>gAt	p.G936D	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	936	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AATAGTGATACCCGTCTCTGC	0.264																																																	0													48	51	50					5																	54567972		2200	4294	6494	SO:0001583	missense	0			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2807G>A	5.37:g.54567972C>T	ENSP00000251636:p.Gly936Asp		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G936D	ENST00000251636.5	37	c.2807	CCDS34158.1	5	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490363	0.84962	.	.	ENSG00000067248	ENST00000251636	D	0.93307	-3.2	5.02	5.02	0.67125	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96294	0.8791	M	0.79011	2.435	0.80722	D	1	D	0.55800	0.973	P	0.61275	0.886	D	0.96702	0.9519	10	0.72032	D	0.01	.	18.6981	0.91610	0.0:1.0:0.0:0.0	.	936	Q7Z478	DHX29_HUMAN	D	936	ENSP00000251636:G936D	ENSP00000251636:G936D	G	-	2	0	DHX29	54603729	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.383000	0.79741	2.479000	0.83701	0.655000	0.94253	GGT	DHX29	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000067248		0.264	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1		0	74	0	C	NM_019030		54567972	-1			no_errors	ENST00000251636	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	54567972	C	T	54567972	3	4	138	1	0	0	0	0	1	0	0	0	4517	507	18	3	1342	3	DHX29	5	54567972	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	11185982	54567972	126347288	81	35243											
DMXL1	1657	genome.wustl.edu	37	chr5	118454598	118454598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttaccaaatgattgtttgCtatacggaggtgactgcagc	10	14	10	7	1	0	2	0	2	0	0	0	3	0	3	1	2	5	3	1	2	4	6			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr5:118454598C>T	ENST00000311085.8	+	8	912	c.832C>T	c.(832-834)Cta>Tta	p.L278L	DMXL1_ENST00000539542.1_Silent_p.L278L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	278										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)		TGATTGTTTGCTATACGGAGG	0.363																																																	0													158	152	154					5																	118454598		2202	4300	6502	SO:0001819	synonymous_variant	0			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.832C>T	5.37:g.118454598C>T				Silent	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L278	ENST00000311085.8	37	c.832	CCDS4125.1	5																																																																																			DMXL1	-	superfamily_WD40_repeat_dom	ENSG00000172869		0.363	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	-	0	78	0	C	NM_005509		118454598	1	tier1	-	no_errors	ENST00000539542	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.239	T	T	118454598	C	T	118454598	2	4	138	1	0	0	0	0	0	0	0	1	4608	796	28	3		3	DMXL1	5	118454598	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	63886626	118454598	62460662	82	35244											
SLC22A4	6583	genome.wustl.edu	37	chr5	131630432	131630432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatggtatgtcagtcgtgttCctggcggggaccccggagca	7	9	15	10	3	1	0	1	0	0	0	3	2	2	2	3	5	1	3	3	5	2	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr5:131630432C>A	ENST00000200652.3	+	1	297	c.123C>A	c.(121-123)ttC>ttA	p.F41L	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	41					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	CAGTCGTGTTCCTGGCGGGGA	0.672																																																	0													51	58	56					5																	131630432		2203	4300	6503	SO:0001583	missense	0			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.123C>A	5.37:g.131630432C>A	ENSP00000200652:p.Phe41Leu		O14546	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.F41L	ENST00000200652.3	37	c.123	CCDS4153.1	5	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561881	0.86335	.	.	ENSG00000197208	ENST00000200652	D	0.90444	-2.67	4.45	2.66	0.31614	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95978	0.8690	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95929	0.8937	10	0.87932	D	0	.	10.7453	0.46177	0.0:0.7744:0.0:0.2256	.	41	Q9H015	S22A4_HUMAN	L	41	ENSP00000200652:F41L	ENSP00000200652:F41L	F	+	3	2	SLC22A4	131658331	0.995000	0.38212	1.000000	0.80357	0.978000	0.69477	0.640000	0.24705	1.228000	0.43614	0.491000	0.48974	TTC	SLC22A4	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Orgcat_transp	ENSG00000197208		0.672	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A4	HGNC	protein_coding	OTTHUMT00000132661.1	-	0	53	0	C	NM_003059		131630432	1	tier1	-	no_errors	ENST00000200652	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	A	A	131630432	C	A	131630432	3	1	138	1	0	0	0	0	1	0	0	0	14501	854	30	3	125	3	SLC22A4	5	131630432	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	13175834	131630432	49284828	83	35245											
HDAC3	8841	genome.wustl.edu	37	chr5	141016116	141016118	+	Splice_Site	DEL	ATC	ATC	-																															ccgaggcggcggaactcacgAtcatcttcttatagagaccg																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	ATC	ATC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr5:141016116_141016118delATC	ENST00000305264.3	-	2	214_216	c.135_137delGAT	c.(133-138)atgatc>atc	p.M45del	RELL2_ENST00000518856.1_5'Flank|FCHSD1_ENST00000523856.1_5'Flank|RELL2_ENST00000297164.3_5'Flank|RELL2_ENST00000521367.1_5'Flank|RELL2_ENST00000444782.1_5'Flank	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	45	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|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)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GGAACTCACGATCATCTTCTTAT	0.631																																																	0																																										SO:0001630	splice_region_variant	0			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.138+1GAT>-	5.37:g.141016119_141016121delATC			D3DQE1|O43268|Q9UEI5|Q9UEV0	In_Frame_Del	DEL	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.M45in_frame_del	ENST00000305264.3	37	c.137_135	CCDS4264.1	5																																																																																			HDAC3	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1	ENSG00000171720		0.631	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2		0	168	0	ATC	NM_003883	In_Frame_Del	141016118	-1	tier1		no_errors	ENST00000305264	ensembl	human	known	74_37	in_frame_del	13.33	143	22	DEL	1.000:1.000:1.000	-	-	141016118	ATC	-	141016116	8	5	138	1	0	1	0	1	0	0	1	0	7035	347	12	0	1205	0	HDAC3	5	141016116	Splice_Site	DEL	ATC	TCGA-Q9-A6FW-01A-31D-A31U-09	9385684	141016116	39899144	84	35246											
POU4F3	5459	genome.wustl.edu	37	chr5	145719156	145719156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ttgatgagagcctgctggcaCgcgccgaagctctggcggcg	6	7	16	12	5	1	2	0	2	1	1	1	4	1	2	2	3	3	3	2	3	1	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr5:145719156C>T	ENST00000230732.4	+	2	255	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	56					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)			CCTGCTGGCACGCGCCGAAGC	0.577																																																	0													71	74	73					5																	145719156		2203	4300	6503	SO:0001583	missense	0			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.166C>T	5.37:g.145719156C>T	ENSP00000230732:p.Arg56Cys		O60557|Q2M3F8	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.R56C	ENST00000230732.4	37	c.166	CCDS4281.1	5	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350148	0.61183	.	.	ENSG00000091010	ENST00000230732	T	0.27557	1.66	4.63	3.73	0.42828	.	0.205055	0.42294	D	0.000733	T	0.53254	0.1785	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.63488	0.915	T	0.59862	-0.7374	10	0.87932	D	0	.	12.1827	0.54221	0.0:0.826:0.174:0.0	.	56	Q15319	PO4F3_HUMAN	C	56	ENSP00000230732:R56C	ENSP00000230732:R56C	R	+	1	0	POU4F3	145699349	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	1.956000	0.40382	1.108000	0.41662	0.462000	0.41574	CGC	POU4F3	-	NULL	ENSG00000091010		0.577	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	-	0	57	0	C	NM_002700		145719156	1	tier1	-	no_errors	ENST00000230732	ensembl	human	known	74_37	missense	15.38	33	6	SNP	1.000	T	T	145719156	C	T	145719156	3	4	138	1	0	0	0	0	1	0	0	0	12319	536	19	1	172	1	POU4F3	5	145719156	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	4703040	145719156	35196104	85	35247											
DOCK2	1794	genome.wustl.edu	37	chr5	169097551	169097551	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgtttccaacagggcatTtttcctaagtcatttatcca	9	18	5	9	0	1	0	1	0	0	0	4	0	4	0	3	1	1	2	3	1	3	8			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr5:169097551T>G	ENST00000256935.8	+	4	254	c.174T>G	c.(172-174)atT>atG	p.I58M		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	58	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			AACAGGGCATTTTTCCTAAGT	0.348																																																	0													81	79	80					5																	169097551		2203	4300	6503	SO:0001583	missense	0			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.174T>G	5.37:g.169097551T>G	ENSP00000256935:p.Ile58Met		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.I58M	ENST00000256935.8	37	c.174	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454788	0.63290	.	.	ENSG00000134516	ENST00000256935	T	0.08458	3.09	5.49	2.98	0.34508	Src homology-3 domain (3);Variant SH3 (1);	0.295180	0.37761	N	0.001957	T	0.12561	0.0305	M	0.68952	2.095	0.80722	D	1	P	0.45283	0.855	P	0.47705	0.555	T	0.02064	-1.1220	10	0.87932	D	0	.	3.6104	0.08058	0.2759:0.1934:0.0:0.5307	.	58	Q92608	DOCK2_HUMAN	M	58	ENSP00000256935:I58M	ENSP00000256935:I58M	I	+	3	3	DOCK2	169030129	0.997000	0.39634	0.999000	0.59377	0.983000	0.72400	0.364000	0.20325	0.926000	0.37118	0.460000	0.39030	ATT	DOCK2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000134516		0.348	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	60	0	T	NM_004946		169097551	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.998	G	G	169097551	T	G	169097551	3	3	138	1	0	0	0	0	1	0	0	0	4701	1829	64	4	188	4	DOCK2	5	169097551	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	23378395	169097551	11817709	86	35248											
CPEB4	80315	genome.wustl.edu	37	chr5	173378899	173378899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagccacttgacccacgaAaaactatatttgttggtggt	12	11	8	10	1	0	1	0	1	0	0	0	2	0	1	2	2	2	1	2	2	4	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr5:173378899A>G	ENST00000265085.5	+	8	3192	c.1738A>G	c.(1738-1740)Aaa>Gaa	p.K580E	CPEB4_ENST00000520867.1_Missense_Mutation_p.K555E|CPEB4_ENST00000334035.5_Missense_Mutation_p.K563E|CPEB4_ENST00000522336.1_Missense_Mutation_p.K190E|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000517880.1_Missense_Mutation_p.K173E|CPEB4_ENST00000519835.1_Missense_Mutation_p.K555E	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	580	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGACCCACGAAAAACTATATT	0.428																																																	0													167	143	151					5																	173378899		2203	4300	6503	SO:0001583	missense	0			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1738A>G	5.37:g.173378899A>G	ENSP00000265085:p.Lys580Glu		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K580E	ENST00000265085.5	37	c.1738	CCDS4390.1	5	.	.	.	.	.	.	.	.	.	.	A	27.9	4.876795	0.91664	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	5.55	4.39	0.52855	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.040740	0.85682	N	0.000000	T	0.43545	0.1252	L	0.52905	1.665	0.53688	D	0.999971	D;D;D;P;D	0.71674	0.998;0.989;0.991;0.946;0.981	D;D;D;P;D	0.70935	0.97;0.971;0.936;0.829;0.936	T	0.34378	-0.9831	10	0.87932	D	0	-16.4703	11.3965	0.49845	0.9292:0.0:0.0708:0.0	.	555;563;555;190;580	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	E	580;555;563;555;190;173	ENSP00000265085:K580E;ENSP00000429092:K555E;ENSP00000334533:K563E;ENSP00000429048:K555E;ENSP00000430345:K190E;ENSP00000427990:K173E	ENSP00000265085:K580E	K	+	1	0	CPEB4	173311505	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.287000	0.95975	1.049000	0.40321	0.528000	0.53228	AAA	CPEB4	-	pfscan_RRM_dom	ENSG00000113742		0.428	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2		0	125	0	A	NM_030627		173378899	1			no_errors	ENST00000265085	ensembl	human	known	74_37	missense	6.15	122	8	SNP	1.000	G	G	173378899	A	G	173378899	3	3	138	1	0	0	0	0	1	0	0	0	3810	15	1	4	1768	4	CPEB4	5	173378899	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	4281348	173378899	7536361	87	35249											
TRIM52	84851	genome.wustl.edu	37	chr5	180687595	180687595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgtcccatccatccatggCccccaccgcttcctcgtcct	4	9	6	22	3	0	0	0	0	0	0	6	0	5	0	9	1	0	1	9	1	0	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr5:180687595C>T	ENST00000327767.4	-	1	524	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	TRIM52-AS1_ENST00000507434.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000514146.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	74	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CCATCCATGGCCCCCACCGCT	0.582																																																	0													161	121	134					5																	180687595		2203	4300	6503	SO:0001583	missense	0				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.220G>A	5.37:g.180687595C>T	ENSP00000332152:p.Ala74Thr			Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.A74T	ENST00000327767.4	37	c.220	CCDS4467.1	5	.	.	.	.	.	.	.	.	.	.	c	15.44	2.834958	0.50951	.	.	ENSG00000183718	ENST00000327767	T	0.23552	1.9	3.45	3.45	0.39498	Zinc finger, RING-type (1);	.	.	.	.	T	0.31071	0.0785	L	0.32530	0.975	0.25118	N	0.990661	D	0.64830	0.994	P	0.56127	0.792	T	0.06162	-1.0842	8	.	.	.	.	11.1343	0.48365	0.0:1.0:0.0:0.0	.	74	Q96A61	TRI52_HUMAN	T	74	ENSP00000332152:A74T	.	A	-	1	0	TRIM52	180620201	0.862000	0.29867	0.507000	0.27676	0.111000	0.19643	2.421000	0.44688	1.887000	0.54652	0.511000	0.50034	GCC	TRIM52	-	smart_Znf_RING	ENSG00000183718		0.582	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM52	HGNC	protein_coding	OTTHUMT00000253572.3	-	0	48	0	C	NM_032765		180687595	-1	tier1	-	no_errors	ENST00000327767	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.832	T	T	180687595	C	T	180687595	3	4	138	1	0	0	0	0	1	0	0	0	16575	739	26	3	681	3	TRIM52	5	180687595	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	7308696	180687595	227665	88	35250											
HIST1H3D	8351	genome.wustl.edu	37	chr6	26197097	26197097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccccacgaatgcggcgagCaagctggatgtccttgggca	8	7	13	13	3	0	0	0	0	0	0	2	3	2	1	3	3	3	3	3	3	2	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:26197097C>A	ENST00000356476.2	-	1	381	c.382G>T	c.(382-384)Gct>Tct	p.A128S	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Missense_Mutation_p.A128S			P68431	H31_HUMAN	histone cluster 1, H3d	128					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(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				ATGCGGCGAGCAAGCTGGATG	0.532																																					GBM(108;3816 4467)												0													99	92	95					6																	26197097		2203	4300	6503	SO:0001583	missense	0			Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"Histones / Replication-dependent"	4767	protein-coding gene	gene with protein product		602811	"H3 histone family, member B", "histone 1, H3d"	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.382G>T	6.37:g.26197097C>A	ENSP00000366999:p.Ala128Ser		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.A128S	ENST00000356476.2	37	c.382	CCDS4590.1	6	.	.	.	.	.	.	.	.	.	.	.	13.68	2.308846	0.40895	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.79247	-1.25;-1.25	4.28	3.39	0.38822	.	.	.	.	.	T	0.76162	0.3949	.	.	.	0.33229	D	0.55574	.	.	.	.	.	.	T	0.77555	-0.2544	6	0.87932	D	0	.	13.3339	0.60505	0.0:0.8401:0.1599:0.0	.	.	.	.	S	128	ENSP00000366999:A128S;ENSP00000367062:A128S	ENSP00000366999:A128S	A	-	1	0	HIST1H3D	26305076	1.000000	0.71417	0.004000	0.12327	0.143000	0.21401	5.676000	0.68131	0.890000	0.36211	0.655000	0.94253	GCT	HIST1H3D	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000197409		0.532	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3D	HGNC	protein_coding	OTTHUMT00000040096.1	-	0	90	0	C	NM_003530		26197097	-1	tier1	-	no_errors	ENST00000356476	ensembl	human	known	74_37	missense	32.26	42	20	SNP	0.998	A	A	26197097	C	A	26197097	3	1	138	1	0	0	0	0	1	0	0	0	7185	710	25	3	32	3	HIST1H3D	6	26197097	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09		26197097	144917970	89	35251											
HIST1H1B	3009	genome.wustl.edu	37	chr6	27835214	27835214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctttgcgcttagcagcgcCggcgccggcagccttcttag	4	9	13	15	6	1	0	0	0	1	0	1	0	1	0	3	2	4	4	3	2	2	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:27835214C>T	ENST00000331442.3	-	1	145	c.94G>A	c.(94-96)Ggc>Agc	p.G32S		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	32					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						TTAGCAGCGCCGGCGCCGGCA	0.627																																																	0													34	41	38					6																	27835214		2199	4296	6495	SO:0001583	missense	0			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.94G>A	6.37:g.27835214C>T	ENSP00000330074:p.Gly32Ser		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.G32S	ENST00000331442.3	37	c.94	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347351	0.24426	.	.	ENSG00000184357	ENST00000331442	T	0.08102	3.13	3.96	3.96	0.45880	.	0.205289	0.33572	N	0.004770	T	0.01454	0.0047	N	0.08118	0	0.39480	D	0.967875	B	0.19706	0.038	B	0.11329	0.006	T	0.42816	-0.9429	10	0.10111	T	0.7	-18.5866	12.3917	0.55362	0.1684:0.8316:0.0:0.0	.	32	P16401	H15_HUMAN	S	32	ENSP00000330074:G32S	ENSP00000330074:G32S	G	-	1	0	HIST1H1B	27943193	0.823000	0.29233	0.776000	0.31678	0.341000	0.28922	0.924000	0.28777	2.204000	0.70986	0.511000	0.50034	GGC	HIST1H1B	-	prints_Histone_H5	ENSG00000184357		0.627	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	-	0	48	0	C	NM_005322		27835214	-1	tier1	-	no_errors	ENST00000331442	ensembl	human	known	74_37	missense	14.58	41	7	SNP	0.865	T	T	27835214	C	T	27835214	3	4	138	1	0	0	0	0	1	0	0	0	7150	652	23	1	590	1	HIST1H1B	6	27835214	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1638117	27835214	143279853	90	35252											
GPX5	2880	genome.wustl.edu	37	chr6	28501887	28501887	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctggtcccaccgggctacGgtcagctcagtcaagacaga	9	6	12	14	3	3	2	3	0	0	2	4	2	4	2	2	3	2	3	2	3	2	1	rs567969552		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:28501887G>A	ENST00000412168.2	+	5	698	c.609G>A	c.(607-609)acG>acA	p.T203T	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	203					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.T203T(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ACCGGGCTACGGTCAGCTCAG	0.522													G|||	1	0.000199681	0	0	5008	,	,		17816	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											83	81	82					6																	28501887		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.609G>A	6.37:g.28501887G>A			A1A4Y0	Silent	SNP	pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase	p.T203	ENST00000412168.2	37	c.609	CCDS4652.1	6																																																																																			GPX5	-	superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase	ENSG00000224586		0.522	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX5	HGNC	protein_coding	OTTHUMT00000043672.2	-	0	49	0	G			28501887	1	tier1	-	no_errors	ENST00000412168	ensembl	human	known	74_37	silent	16.67	45	9	SNP	0.000	A	A	28501887	G	A	28501887	2	1	138	1	0	0	0	0	0	0	0	1	6770	1103	39	1		1	GPX5	6	28501887	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	666673	28501887	142613180	91	35253											
TRIM31	11074	genome.wustl.edu	37	chr6	30071921	30071921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaggttttgttcattttatGattatttttctgtaacaagc	9	21	7	4	0	2	2	1	2	1	0	2	2	2	2	0	1	2	3	0	1	4	9			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:30071921G>A	ENST00000376734.3	-	8	1107	c.982C>T	c.(982-984)Cat>Tat	p.H328Y	TRIM31_ENST00000540829.1_Missense_Mutation_p.H328Y|TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	328					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						TTCATTTTATGATTATTTTTC	0.408																																																	0													103	118	112					6																	30071921		1511	2709	4220	SO:0001583	missense	0			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.982C>T	6.37:g.30071921G>A	ENSP00000365924:p.His328Tyr		A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING	p.H328Y	ENST00000376734.3	37	c.982	CCDS34374.1	6	.	.	.	.	.	.	.	.	.	.	G	5.959	0.360980	0.11296	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.65916	-0.18;-0.18	2.16	0.0285	0.14158	.	.	.	.	.	T	0.12561	0.0305	N	0.08118	0	0.09310	N	1	P	0.35139	0.486	B	0.19946	0.027	T	0.08659	-1.0711	9	0.34782	T	0.22	.	4.0015	0.09582	0.5267:0.0:0.4733:0.0	.	328	Q9BZY9	TRI31_HUMAN	Y	328	ENSP00000365924:H328Y;ENSP00000444311:H328Y	ENSP00000365918:H328Y	H	-	1	0	TRIM31	30179900	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.809000	0.04510	-0.022000	0.13986	0.530000	0.56133	CAT	TRIM31	-	NULL	ENSG00000204616		0.408	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM31	HGNC	protein_coding	OTTHUMT00000076081.2	-	0	82	0	G			30071921	-1	tier1	-	no_errors	ENST00000376734	ensembl	human	known	74_37	missense	21.13	56	15	SNP	0.001	A	A	30071921	G	A	30071921	3	1	138	1	0	0	0	0	1	0	0	0	16553	1290	45	3	303	3	TRIM31	6	30071921	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	1570034	30071921	141043146	92	35254											
TNXB	7148	genome.wustl.edu	37	chr6	32064950	32064950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacacgccctgcacgcagCgcccacggccttggcagtcc	7	4	10	20	4	0	0	0	0	0	0	1	0	1	0	4	2	2	3	4	2	0	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:32064950C>A	ENST00000479795.1	-	3	820	c.680G>T	c.(679-681)cGc>cTc	p.R227L	TNXB_ENST00000375247.2_Missense_Mutation_p.R227L|TNXB_ENST00000375244.3_Missense_Mutation_p.R227L			P22105	TENX_HUMAN	tenascin XB	227	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						CTGCACGCAGCGCCCACGGCC	0.697																																																	0													15	20	18					6																	32064950		2149	4230	6379	SO:0001583	missense	0			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.680G>T	6.37:g.32064950C>A	ENSP00000418248:p.Arg227Leu		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R227L	ENST00000479795.1	37	c.680		6	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659348	0.67586	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.09911	2.93;2.93;2.93	4.22	4.22	0.49857	.	0.000000	0.46442	D	0.000295	T	0.15046	0.0363	L	0.56769	1.78	0.30137	N	0.804313	D	0.76494	0.999	D	0.83275	0.996	T	0.03887	-1.0995	10	0.19590	T	0.45	.	14.1225	0.65198	0.0:1.0:0.0:0.0	.	227	P22105-3	.	L	227	ENSP00000364393:R227L;ENSP00000364396:R227L;ENSP00000418248:R227L	ENSP00000364393:R227L	R	-	2	0	TNXB	32172928	0.000000	0.05858	1.000000	0.80357	0.783000	0.44284	-0.315000	0.08081	2.161000	0.67846	0.655000	0.94253	CGC	TNXB	-	pfam_EGF_extracell,smart_EG-like_dom	ENSG00000168477		0.697	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000357059.1	-	0	47	0	C	NM_019105		32064950	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	14.89	40	7	SNP	1.000	A	A	32064950	C	A	32064950	3	1	138	1	0	0	0	0	1	0	0	0	16393	768	27	2	14201	2	TNXB	6	32064950	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1993029	32064950	139050117	93	35255											
KLHDC3	116138	genome.wustl.edu	37	chr6	42986642	42986642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaaccgaaggggaaggggCcatgtccccgccggcgccag	8	4	16	13	4	0	1	0	1	0	0	1	3	1	2	6	5	1	0	6	5	3	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:42986642C>T	ENST00000326974.4	+	8	1057	c.862C>T	c.(862-864)Cca>Tca	p.P288S	KLHDC3_ENST00000332245.8_Missense_Mutation_p.P229S|KLHDC3_ENST00000244670.8_Missense_Mutation_p.P154S|RRP36_ENST00000244496.5_5'Flank	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	288					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGGAAGGGGCCATGTCCCCG	0.522																																																	0													62	75	70					6																	42986642		2203	4299	6502	SO:0001583	missense	0			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.862C>T	6.37:g.42986642C>T	ENSP00000313995:p.Pro288Ser		A8K2W9	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.P288S	ENST00000326974.4	37	c.862	CCDS4880.1	6	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660825	0.88154	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.72835	-0.69;-0.69;-0.69	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.88973	0.6583	H	0.95850	3.73	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	0.91789	0.5442	10	0.87932	D	0	-2.8406	19.6136	0.95619	0.0:1.0:0.0:0.0	.	288;229;154;288	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	S	288;288;154;288;261;229	ENSP00000313995:P288S;ENSP00000244670:P154S;ENSP00000331562:P229S	ENSP00000244670:P154S	P	+	1	0	KLHDC3	43094620	1.000000	0.71417	0.981000	0.43875	0.913000	0.54294	5.511000	0.67024	2.712000	0.92718	0.407000	0.27541	CCA	KLHDC3	-	NULL	ENSG00000124702		0.522	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	HGNC	protein_coding	OTTHUMT00000040570.1		0	54	0	C	NM_057161		42986642	1			no_errors	ENST00000326974	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	42986642	C	T	42986642	3	4	138	1	0	0	0	0	1	0	0	0	8384	739	26	3	888	3	KLHDC3	6	42986642	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	10921692	42986642	128128425	94	35256											
CUL9	23113	genome.wustl.edu	37	chr6	43189490	43189490	+	Missense_Mutation	SNP	A	A	G	1	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	agtcctggaagccaaatcacAaagactattacaactgctct	15	9	6	11	0	2	1	1	0	1	1	3	2	3	2	2	1	4	1	2	1	6	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:43189490A>G	ENST00000252050.4	+	35	6904	c.6820A>G	c.(6820-6822)Aaa>Gaa	p.K2274E	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.K2164E|CUL9_ENST00000372647.2_Missense_Mutation_p.K2246E	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2274					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						GCCAAATCACAAAGACTATTA	0.592																																																	0													66	54	58					6																	43189490		2203	4300	6503	SO:0001583	missense	0			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.6820A>G	6.37:g.43189490A>G	ENSP00000252050:p.Lys2274Glu		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.K2274E	ENST00000252050.4	37	c.6820	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	A	28.9	4.959064	0.92726	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.61510	0.1;0.1;0.1	5.63	5.63	0.86233	Zinc finger, C6HC-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	N	0.26042	0.785	0.52099	D	0.99994	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72338	0.942;0.977;0.977	T	0.64732	-0.6338	10	0.66056	D	0.02	-15.5832	15.8307	0.78749	1.0:0.0:0.0:0.0	.	2164;2246;2274	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	E	2274;2164;2246	ENSP00000252050:K2274E;ENSP00000346490:K2164E;ENSP00000361730:K2246E	ENSP00000252050:K2274E	K	+	1	0	CUL9	43297468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.924000	0.92827	2.148000	0.66965	0.459000	0.35465	AAA	CUL9	-	smart_Znf_C6HC,pfscan_Znf_RING	ENSG00000112659		0.592	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2		0	35	0	A	NM_015089		43189490	1			no_errors	ENST00000252050	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	G	G	43189490	A	G	43189490	3	3	138	1	0	0	0	0	1	0	0	0	4070	131	5	4	6954	4	CUL9	6	43189490	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	202848	43189490	127925577	95	35257											
EYS	346007	genome.wustl.edu	37	chr6	65622444	65622444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgagttgtttctgcaaggGttatgaagtaggtcacaaag	11	13	13	4	0	2	2	1	2	1	0	2	2	2	2	0	2	1	6	0	2	5	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:65622444G>T	ENST00000370621.3	-	16	3100	c.2574C>A	c.(2572-2574)aaC>aaA	p.N858K	EYS_ENST00000370616.2_Missense_Mutation_p.N858K|EYS_ENST00000503581.1_Missense_Mutation_p.N858K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	858	EGF-like 12. {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						TTCTGCAAGGGTTATGAAGTA	0.383																																																	0													170	143	151					6																	65622444		692	1591	2283	SO:0001583	missense	0				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.2574C>A	6.37:g.65622444G>T	ENSP00000359655:p.Asn858Lys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.N858K	ENST00000370621.3	37	c.2574		6	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105756	0.37145	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.87412	-2.25;-2.25;-2.25	5.0	-5.58	0.02512	.	1.428560	0.05133	N	0.492965	T	0.66963	0.2843	L	0.52759	1.655	0.54753	D	0.999987	B	0.16802	0.019	B	0.14578	0.011	T	0.53816	-0.8385	10	0.48119	T	0.1	.	3.5196	0.07737	0.5142:0.2303:0.1604:0.0951	.	858	Q5T1H1-1	.	K	858	ENSP00000424243:N858K;ENSP00000359655:N858K;ENSP00000359650:N858K	ENSP00000359650:N858K	N	-	3	2	EYS	65679165	0.994000	0.37717	0.000000	0.03702	0.452000	0.32318	0.296000	0.19083	-1.234000	0.02548	0.561000	0.74099	AAC	EYS	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000188107		0.383	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	75	0	G	XM_294050		65622444	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	14.04	49	8	SNP	0.527	T	T	65622444	G	T	65622444	3	4	138	1	0	0	0	0	1	0	0	0	5348	1252	44	3	6817	3	EYS	6	65622444	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	22432954	65622444	105492623	96	35258											
BAI3	577	genome.wustl.edu	37	chr6	69772889	69772889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgaacccaaaacaacCgattcgtttctggagataga	14	8	9	10	2	1	3	0	1	1	2	2	5	1	3	3	2	3	1	3	2	5	3	rs200795351	byFrequency	TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:69772889C>T	ENST00000370598.1	+	16	3218	c.2397C>T	c.(2395-2397)acC>acT	p.T799T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	799					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)				CCAAAACAACCGATTCGTTTC	0.368																																																	0													149	127	135					6																	69772889		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2397C>T	6.37:g.69772889C>T			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.T799	ENST00000370598.1	37	c.2397	CCDS4968.1	6																																																																																			BAI3	-	pfam_DUF3497	ENSG00000135298		0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	69	0	C			69772889	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	13.73	44	7	SNP	0.010	T	T	69772889	C	T	69772889	2	4	138	1	0	0	0	0	0	0	0	1	1301	639	23	1		1	BAI3	6	69772889	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	4150445	69772889	101342178	97	35259											
COL19A1	1310	genome.wustl.edu	37	chr6	70669905	70669905	+	Missense_Mutation	SNP	T	T	A	0	1	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	tagggtgaaaatggtttacaTggtgctccaggattccctgg	9	12	13	7	0	0	1	0	1	0	0	2	2	2	2	2	5	2	2	2	5	4	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:70669905T>A	ENST00000322773.4	+	10	1056	c.954T>A	c.(952-954)caT>caA	p.H318Q		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	318	Collagen-like 1.|Triple-helical region 1 (COL1).				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						ATGGTTTACATGGTGCTCCAG	0.313																																																	0													128	121	124					6																	70669905		2203	4300	6503	SO:0001583	missense	0				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.954T>A	6.37:g.70669905T>A	ENSP00000316030:p.His318Gln		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.H318Q	ENST00000322773.4	37	c.954	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	T	9.549	1.115443	0.20795	.	.	ENSG00000082293	ENST00000322773	D	0.93426	-3.22	5.06	3.88	0.44766	.	1.023660	0.07766	N	0.950901	T	0.59362	0.2188	N	0.00327	-1.64	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.46373	-0.9196	10	0.12430	T	0.62	.	8.8366	0.35115	0.0:0.0:0.1898:0.8102	.	318	Q14993	COJA1_HUMAN	Q	318	ENSP00000316030:H318Q	ENSP00000316030:H318Q	H	+	3	2	COL19A1	70726626	0.973000	0.33851	0.319000	0.25293	0.901000	0.52897	1.972000	0.40540	0.930000	0.37217	-0.323000	0.08544	CAT	COL19A1	-	pfam_Collagen	ENSG00000082293		0.313	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	-	0	54	0	T			70669905	1	tier1	-	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.651	A	A	70669905	T	A	70669905	3	1	138	1	0	0	0	0	1	0	0	0	3683	1461	51	5	988	5	COL19A1	6	70669905	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	897016	70669905	100445162	98	35260											
MTO1	25821	genome.wustl.edu	37	chr6	74190469	74190469	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagactcatttggttcaaCgactcttctttgctggacag	8	14	10	9	1	4	1	2	0	2	1	4	4	4	2	0	3	2	2	0	3	1	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:74190469C>T	ENST00000370300.4	+	8	1366	c.1276C>T	c.(1276-1278)Cga>Tga	p.R426*	MTO1_ENST00000370305.1_Nonsense_Mutation_p.R352*|MTO1_ENST00000415954.2_Nonsense_Mutation_p.R401*|MTO1_ENST00000498286.1_Nonsense_Mutation_p.R401*	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	426					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TTTGGTTCAACGACTCTTCTT	0.413																																																	0													160	143	149					6																	74190469		2203	4300	6503	SO:0001587	stop_gained	0			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1276C>T	6.37:g.74190469C>T	ENSP00000359323:p.Arg426*		B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Nonsense_Mutation	SNP	pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA	p.R401*	ENST00000370300.4	37	c.1201	CCDS4979.1	6	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906423	0.52333	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300	.	.	.	5.15	4.26	0.50523	.	0.059282	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-15.3552	12.583	0.56401	0.3019:0.6981:0.0:0.0	.	.	.	.	X	401;401;304;352;426	.	ENSP00000350506:R304X	R	+	1	2	MTO1	74247190	1.000000	0.71417	0.954000	0.39281	0.556000	0.35491	3.176000	0.50863	1.096000	0.41439	0.591000	0.81541	CGA	MTO1	-	pfam_GIDA-rel,tigrfam_GidA	ENSG00000135297		0.413	MTO1-003	KNOWN	basic|CCDS	protein_coding	MTO1	HGNC	protein_coding	OTTHUMT00000041215.2	-	0	77	0	C	NM_012123		74190469	1	tier1	-	no_errors	ENST00000415954	ensembl	human	known	74_37	nonsense	6.59	84	6	SNP	1.000	T	T	74190469	C	T	74190469	4	4	138	1	0	0	0	0	0	1	0	0	9991	528	19	1	1306	1	MTO1	6	74190469	Nonsense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	3520564	74190469	96924598	99	35261											
BVES	11149	genome.wustl.edu	37	chr6	105573312	105573312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcatcaactgaggttttatCctctgcagcataagtttggc	9	14	9	9	0	3	1	2	1	1	0	4	1	4	1	1	2	3	4	1	2	3	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:105573312C>T	ENST00000314641.5	-	4	709	c.493G>A	c.(493-495)Gat>Aat	p.D165N	BVES_ENST00000336775.5_Missense_Mutation_p.D165N|BVES_ENST00000446408.2_Missense_Mutation_p.D165N	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	165					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GAGGTTTTATCCTCTGCAGCA	0.408																																																	0													161	162	162					6																	105573312		2203	4300	6503	SO:0001583	missense	0			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.493G>A	6.37:g.105573312C>T	ENSP00000313172:p.Asp165Asn		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.D165N	ENST00000314641.5	37	c.493	CCDS5051.1	6	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687159	0.68157	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.32023	1.47;1.47;1.47	5.76	5.76	0.90799	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.129652	0.64402	D	0.000001	T	0.20618	0.0496	N	0.25286	0.73	0.80722	D	1	B	0.33841	0.428	P	0.45712	0.491	T	0.09058	-1.0692	10	0.15499	T	0.54	-15.8711	19.9384	0.97150	0.0:1.0:0.0:0.0	.	165	Q8NE79	POPD1_HUMAN	N	165	ENSP00000313172:D165N;ENSP00000337259:D165N;ENSP00000397310:D165N	ENSP00000313172:D165N	D	-	1	0	BVES	105680005	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.388000	0.79795	2.716000	0.92895	0.655000	0.94253	GAT	BVES	-	pfam_Popeye_prot,superfamily_cNMP-bd-like	ENSG00000112276		0.408	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BVES	HGNC	protein_coding	OTTHUMT00000406075.1	-	0	67	0	C	NM_147147		105573312	-1	tier1	-	no_errors	ENST00000314641	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	105573312	C	T	105573312	3	4	138	1	0	0	0	0	1	0	0	0	1579	855	30	3	609	3	BVES	6	105573312	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	31382843	105573312	65541755	100	35262											
REV3L	5980	genome.wustl.edu	37	chr6	111656701	111656701	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttgtcagtacatgtaaaaActgaatgccaaaaagtctag	16	10	7	8	0	2	1	1	1	1	0	2	1	2	1	2	0	3	2	2	0	8	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:111656701A>C	ENST00000358835.3	-	23	8105	c.7651T>G	c.(7651-7653)Ttt>Gtt	p.F2551V	REV3L_ENST00000368802.3_Missense_Mutation_p.F2551V|REV3L_ENST00000368805.1_Missense_Mutation_p.F2551V|REV3L_ENST00000435970.1_Missense_Mutation_p.F2473V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2551					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)		ACATGTAAAAACTGAATGCCA	0.408								DNA polymerases (catalytic subunits)																																									0													154	147	150					6																	111656701		2203	4300	6503	SO:0001583	missense	0			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.7651T>G	6.37:g.111656701A>C	ENSP00000351697:p.Phe2551Val		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.F2551V	ENST00000358835.3	37	c.7651	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	A	28.2	4.897774	0.91962	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.44881	4.77;4.77;4.77;0.91	5.53	5.53	0.82687	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	M	0.92367	3.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77558	-0.2543	10	0.87932	D	0	-8.8965	15.6624	0.77197	1.0:0.0:0.0:0.0	.	2551	O60673	DPOLZ_HUMAN	V	2551;2551;2551;2473;624	ENSP00000357792:F2551V;ENSP00000357795:F2551V;ENSP00000351697:F2551V;ENSP00000402003:F2473V	ENSP00000351697:F2551V	F	-	1	0	REV3L	111763394	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.335000	0.96500	2.090000	0.63153	0.377000	0.23210	TTT	REV3L	-	superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	ENSG00000009413		0.408	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0	28	0	A	NM_002912		111656701	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	C	C	111656701	A	C	111656701	3	2	138	1	0	0	0	0	1	0	0	0	13285	43	2	4	1785	4	REV3L	6	111656701	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	6083389	111656701	59458366	101	35263											
C6orf204	387119	genome.wustl.edu	37	chr6	118887415	118887415	+	Silent	SNP	A	A	C	1	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	ttagacggcatcacatgggcAgtaggaagagtaatcaatga	15	8	12	6	1	2	3	2	1	0	2	2	4	2	4	0	3	0	4	0	3	5	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:118887415A>C	ENST00000368491.3	-	3	918	c.297T>G	c.(295-297)acT>acG	p.T99T	CEP85L_ENST00000419517.2_Silent_p.T99T|CEP85L_ENST00000368488.5_Silent_p.T102T|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000392500.3_Silent_p.T102T	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	99						centrosome (GO:0005813)|cytoplasm (GO:0005737)											TCACATGGGCAGTAGGAAGAG	0.383																																																	0													47	47	47					6																	118887415		2203	4299	6502	SO:0001819	synonymous_variant	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.297T>G	6.37:g.118887415A>C			A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	NULL	p.T102	ENST00000368491.3	37	c.306	CCDS43498.1	6																																																																																			CEP85L	-	NULL	ENSG00000111860		0.383	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	-	0	46	0	A	NM_001042475		118887415	-1	tier1	-	no_errors	ENST00000368488	ensembl	human	known	74_37	silent	12.82	34	5	SNP	1.000	C	C	118887415	A	C	118887415	2	2	138	1	0	0	0	0	0	0	0	1	2360	175	7	4		4	C6orf204	6	118887415	Silent	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	7230714	118887415	52227652	102	35264											
PDE7B	27115	genome.wustl.edu	37	chr6	136508214	136508214	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaactggaaatcagtcctctTtgtaatcaacagaaagattc	15	11	7	8	0	3	2	2	0	1	2	5	4	4	3	1	1	2	1	1	1	5	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:136508214T>C	ENST00000308191.6	+	12	1389	c.1086T>C	c.(1084-1086)ctT>ctC	p.L362L	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	362	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	TCAGTCCTCTTTGTAATCAAC	0.318																																																	0													90	97	94					6																	136508214		2203	4300	6503	SO:0001819	synonymous_variant	0			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1086T>C	6.37:g.136508214T>C			Q5W154	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.L362	ENST00000308191.6	37	c.1086	CCDS5175.1	6																																																																																			PDE7B	-	pfam_PDEase_catalytic_dom	ENSG00000171408		0.318	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7B	HGNC	protein_coding	OTTHUMT00000042371.1		0	29	0	T			136508214	1			no_errors	ENST00000308191	ensembl	human	known	74_37	silent	13.79	25	4	SNP	1.000	C	C	136508214	T	C	136508214	2	2	138	1	0	0	0	0	0	0	0	1	11691	1828	64	4		4	PDE7B	6	136508214	Silent	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	17620799	136508214	34606853	103	35265											
OLIG3	167826	genome.wustl.edu	37	chr6	137815154	137815154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgcgagaggctttccccggGcatcttctgcatcatatcgc	6	10	10	15	4	3	1	1	0	2	1	5	2	4	1	3	2	1	3	3	2	1	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:137815154G>A	ENST00000367734.2	-	1	377	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	52					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTTTCCCCGGGCATCTTCTGC	0.612																																																	0													76	80	79					6																	137815154		2203	4300	6503	SO:0001583	missense	0			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.154C>T	6.37:g.137815154G>A	ENSP00000356708:p.Pro52Ser		Q8N8Q0	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P52S	ENST00000367734.2	37	c.154	CCDS5186.1	6	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.150185	0.00328	.	.	ENSG00000177468	ENST00000367734	D	0.99353	-5.77	5.55	2.39	0.29439	.	0.551476	0.17383	N	0.176231	D	0.88941	0.6574	N	0.08118	0	0.24566	N	0.993948	B	0.02656	0.0	B	0.01281	0.0	D	0.85275	0.1058	10	0.05721	T	0.95	-0.6652	4.9892	0.14205	0.2805:0.2941:0.4255:0.0	.	52	Q7RTU3	OLIG3_HUMAN	S	52	ENSP00000356708:P52S	ENSP00000356708:P52S	P	-	1	0	OLIG3	137856847	1.000000	0.71417	0.981000	0.43875	0.472000	0.32918	1.036000	0.30228	0.707000	0.31934	-1.094000	0.02160	CCC	OLIG3	-	NULL	ENSG00000177468		0.612	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLIG3	HGNC	protein_coding	OTTHUMT00000042405.1		0	31	0	G	NM_175747		137815154	-1			no_errors	ENST00000367734	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.961	A	A	137815154	G	A	137815154	3	1	138	1	0	0	0	0	1	0	0	0	10901	1203	42	3	668	3	OLIG3	6	137815154	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	1306940	137815154	33299913	104	35266											
TXLNB	167838	genome.wustl.edu	37	chr6	139564250	139564250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacactattaacctcctctgCgtcaatctcttgatccacag	10	12	5	14	1	3	1	1	1	2	0	6	2	5	1	3	0	2	0	3	0	3	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:139564250C>T	ENST00000358430.3	-	10	1700	c.1468G>A	c.(1468-1470)Gca>Aca	p.A490T	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	490						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)		ACCTCCTCTGCGTCAATCTCT	0.458																																																	0													119	122	121					6																	139564250		2203	4300	6503	SO:0001583	missense	0				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.1468G>A	6.37:g.139564250C>T	ENSP00000351206:p.Ala490Thr		Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	pfam_Taxilin_fam	p.A490T	ENST00000358430.3	37	c.1468	CCDS34545.1	6	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880748	0.33255	.	.	ENSG00000164440	ENST00000358430	T	0.15718	2.4	6.06	1.15	0.20763	.	0.869260	0.10439	N	0.674536	T	0.02230	0.0069	N	0.19112	0.55	0.09310	N	1	B	0.25312	0.123	B	0.12837	0.008	T	0.47209	-0.9135	9	.	.	.	-1.4245	2.1403	0.03772	0.1204:0.4386:0.1171:0.3239	.	490	Q8N3L3	TXLNB_HUMAN	T	490	ENSP00000351206:A490T	.	A	-	1	0	TXLNB	139605943	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.913000	0.04042	-0.071000	0.12886	-0.176000	0.13171	GCA	TXLNB	-	NULL	ENSG00000164440		0.458	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	HGNC	protein_coding	OTTHUMT00000042458.1	-	0	80	0	C	NM_153235		139564250	-1	tier1	-	no_errors	ENST00000358430	ensembl	human	known	74_37	missense	11.54	69	9	SNP	0.000	T	T	139564250	C	T	139564250	3	4	138	1	0	0	0	0	1	0	0	0	16837	768	27	1	590	1	TXLNB	6	139564250	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1749096	139564250	31550817	105	35267											
SASH1	23328	genome.wustl.edu	37	chr6	148711341	148711341	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tacaacacctgtttctccgaCgtgtgcgagaggatggagga	10	9	13	9	3	1	1	0	0	1	1	2	6	1	4	2	3	3	1	2	3	2	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:148711341C>T	ENST00000367467.3	+	2	703	c.228C>T	c.(226-228)gaC>gaT	p.D76D	SASH1_ENST00000367469.1_Silent_p.D31D	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	76					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.D76D(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GTTTCTCCGACGTGTGCGAGA	0.562																																																	1	Substitution - coding silent(1)	lung(1)											100	89	93					6																	148711341		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.228C>T	6.37:g.148711341C>T			Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.D76	ENST00000367467.3	37	c.228	CCDS5212.1	6																																																																																			SASH1	-	NULL	ENSG00000111961		0.562	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	-	0	58	0	C	NM_015278		148711341	1	tier1	-	no_errors	ENST00000367467	ensembl	human	known	74_37	silent	25.86	43	15	SNP	1.000	T	T	148711341	C	T	148711341	2	4	138	1	0	0	0	0	0	0	0	1	13893	535	19	1		1	SASH1	6	148711341	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	9147091	148711341	22403726	106	35268											
C6orf72	116254	genome.wustl.edu	37	chr6	149899972	149899972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagtgaagaatgaaaatCttgaaaatttggaggaaaaa	20	11	9	1	0	1	4	0	3	1	1	1	6	1	6	0	2	0	0	0	2	10	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:149899972C>A	ENST00000367419.5	+	4	413	c.292C>A	c.(292-294)Ctt>Att	p.L98I	RP1-12G14.6_ENST00000435273.2_RNA	NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	98						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L98V(1)									GAATGAAAATCTTGAAAATTT	0.318																																																	1	Substitution - Missense(1)	lung(1)											51	52	52					6																	149899972		2203	4299	6502	SO:0001583	missense	0			BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 72"	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.292C>A	6.37:g.149899972C>A	ENSP00000356389:p.Leu98Ile		B2RDY7|E1P5A2	Missense_Mutation	SNP	NULL	p.L98I	ENST00000367419.5	37	c.292	CCDS5216.1	6	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043315	0.55003	.	.	ENSG00000055211	ENST00000367419	.	.	.	5.61	3.52	0.40303	.	0.376501	0.25135	N	0.032871	T	0.40956	0.1138	M	0.67953	2.075	0.33529	D	0.593321	D	0.59767	0.986	P	0.56278	0.795	T	0.47787	-0.9090	8	.	.	.	-7.6826	4.3711	0.11247	0.2171:0.6036:0.0:0.1793	.	98	Q9NU53	CF072_HUMAN	I	98	.	.	L	+	1	0	C6orf72	149941665	0.988000	0.35896	1.000000	0.80357	0.994000	0.84299	0.602000	0.24134	1.330000	0.45394	0.561000	0.74099	CTT	GINM1	-	NULL	ENSG00000055211		0.318	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINM1	HGNC	protein_coding	OTTHUMT00000042644.1		0	34	0	C	NM_138785		149899972	1			no_errors	ENST00000367419	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.993	A	A	149899972	C	A	149899972	3	1	138	1	0	0	0	0	1	0	0	0	2378	913	32	3	306	3	C6orf72	6	149899972	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1188631	149899972	21215095	107	35269											
SYNE1	23345	genome.wustl.edu	37	chr6	152679647	152679647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcttggtgcaggcggacaAgtttttcagacttggttacg	8	13	12	8	2	2	1	1	0	1	1	2	2	2	2	0	4	2	3	0	4	2	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:152679647A>G	ENST00000367255.5	-	66	11070	c.10469T>C	c.(10468-10470)cTt>cCt	p.L3490P	SYNE1_ENST00000423061.1_Missense_Mutation_p.L3497P|SYNE1_ENST00000448038.1_Missense_Mutation_p.L3497P|SYNE1_ENST00000341594.5_Missense_Mutation_p.L3461P|SYNE1_ENST00000265368.4_Missense_Mutation_p.L3490P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3490					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)		CAGGCGGACAAGTTTTTCAGA	0.383										HNSCC(10;0.0054)																																							0													116	107	110					6																	152679647		2203	4300	6503	SO:0001583	missense	0			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.10469T>C	6.37:g.152679647A>G	ENSP00000356224:p.Leu3490Pro		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L3490P	ENST00000367255.5	37	c.10469	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	17.53	3.413077	0.62511	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.54279	0.58;1.23;0.58;1.23;0.58	5.35	5.35	0.76521	.	0.137634	0.33075	N	0.005306	T	0.62332	0.2419	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.969;0.969;0.969;0.986	T	0.64685	-0.6349	10	0.48119	T	0.1	.	15.3249	0.74154	1.0:0.0:0.0:0.0	.	3490;3490;3490;3497	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	P	3490;3497;3490;3497;3461	ENSP00000356224:L3490P;ENSP00000396024:L3497P;ENSP00000265368:L3490P;ENSP00000390975:L3497P;ENSP00000341887:L3461P	ENSP00000265368:L3490P	L	-	2	0	SYNE1	152721340	1.000000	0.71417	0.936000	0.37596	0.987000	0.75469	6.640000	0.74319	2.037000	0.60232	0.459000	0.35465	CTT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	107	0	A	NM_182961		152679647	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	15.31	83	15	SNP	0.999	G	G	152679647	A	G	152679647	3	3	138	1	0	0	0	0	1	0	0	0	15492	72	3	4	16321	4	SYNE1	6	152679647	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	2779675	152679647	18435420	108	35270											
LPA	4018	genome.wustl.edu	37	chr6	160999713	160999713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctcagcatctggattcCtgcagtagttcctggtcagg	8	12	11	10	0	3	0	2	0	2	0	6	2	5	1	2	3	2	4	2	3	2	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr6:160999713C>A	ENST00000316300.5	-	27	4357	c.4313G>T	c.(4312-4314)aGg>aTg	p.R1438M	LPA_ENST00000447678.1_Missense_Mutation_p.R1438M			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3946	Kringle 13. {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)	ATCTGGATTCCTGCAGTAGTT	0.498																																																	0													85	85	85					6																	160999713		2082	4244	6326	SO:0001583	missense	0			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.4313G>T	6.37:g.160999713C>A	ENSP00000321334:p.Arg1438Met		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.R1438M	ENST00000316300.5	37	c.4313	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	15.54	2.862483	0.51482	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.93953	-3.32;-3.32	2.37	2.37	0.29283	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.97977	0.9334	H	0.99855	4.85	0.43971	D	0.996658	D	0.89917	1.0	D	0.97110	1.0	D	0.97250	0.9897	9	0.87932	D	0	.	10.3857	0.44138	0.0:1.0:0.0:0.0	.	3946	P08519	APOA_HUMAN	M	1438	ENSP00000321334:R1438M;ENSP00000395608:R1438M	ENSP00000321334:R1438M	R	-	2	0	LPA	160919703	0.853000	0.29707	0.333000	0.25482	0.140000	0.21249	3.140000	0.50585	1.308000	0.44962	0.174000	0.16983	AGG	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000198670		0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1		0	81	0	C	NM_005577		160999713	-1			no_errors	ENST00000316300	ensembl	human	known	74_37	missense	8.75	73	7	SNP	1.000	A	A	160999713	C	A	160999713	3	1	138	1	0	0	0	0	1	0	0	0	8938	681	24	3	1861	3	LPA	6	160999713	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	8320066	160999713	10115354	109	35271											
PDE1C	5137	genome.wustl.edu	37	chr7	31917639	31917639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaccatgtttgatgtccGtctatacattctgaaaagcc	11	13	6	11	1	2	2	0	2	2	0	4	2	4	2	4	0	3	1	4	0	5	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:31917639G>A	ENST00000396191.1	-	5	891	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	PDE1C_ENST00000396182.2_Missense_Mutation_p.R146W|PDE1C_ENST00000396193.1_Missense_Mutation_p.R206W|PDE1C_ENST00000321453.7_Missense_Mutation_p.R146W|PDE1C_ENST00000396184.3_Missense_Mutation_p.R146W	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	146					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)	TTTGATGTCCGTCTATACATT	0.343																																																	0													111	102	105					7																	31917639		2203	4300	6503	SO:0001583	missense	0			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.436C>T	7.37:g.31917639G>A	ENSP00000379494:p.Arg146Trp		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.R146W	ENST00000396191.1	37	c.436	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337977	0.81911	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.74737	-0.87;-0.86;-0.86;-0.83;-0.83	5.75	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.86569	0.5964	M	0.85299	2.745	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.72338	0.977;0.962;0.899	D	0.88549	0.3115	10	0.87932	D	0	.	13.3151	0.60403	0.0:0.0:0.7121:0.2879	.	146;206;146	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	W	206;146;146;146;146	ENSP00000379496:R206W;ENSP00000379494:R146W;ENSP00000318105:R146W;ENSP00000379487:R146W;ENSP00000379485:R146W	ENSP00000318105:R146W	R	-	1	2	PDE1C	31884164	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.140000	0.50585	1.389000	0.46526	0.650000	0.86243	CGG	PDE1C	-	NULL	ENSG00000154678		0.343	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	-	0	32	0	G			31917639	-1	tier1	-	no_errors	ENST00000321453	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	A	A	31917639	G	A	31917639	3	1	138	1	0	0	0	0	1	0	0	0	11674	1144	40	1	1520	1	PDE1C	7	31917639	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09		31917639	127221024	110	35272											
LAT2	7462	genome.wustl.edu	37	chr7	73631157	73631157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggccttttcttgcaggtGcaaagaggtcagagaaaatc	11	10	11	9	0	2	2	1	0	1	2	3	3	2	2	2	3	2	2	2	3	3	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:73631157G>A	ENST00000460943.1	+	4	986	c.97G>A	c.(97-99)Gca>Aca	p.A33T	LAT2_ENST00000275635.7_Missense_Mutation_p.A33T|LAT2_ENST00000344995.5_Missense_Mutation_p.A33T|LAT2_ENST00000398475.1_Missense_Mutation_p.A33T	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)	TCTTGCAGGTGCAAAGAGGTC	0.552																																																	0													84	90	88					7																	73631157		1950	4153	6103	SO:0001583	missense	0			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.97G>A	7.37:g.73631157G>A	ENSP00000420494:p.Ala33Thr		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	NULL	p.A33T	ENST00000460943.1	37	c.97	CCDS5566.2	7	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797039	0.31777	.	.	ENSG00000086730	ENST00000465116;ENST00000344995;ENST00000460943;ENST00000475494;ENST00000398475;ENST00000361082;ENST00000275635;ENST00000470709	T;T;T;T;T;T;T;T	0.04015	3.73;3.73;3.73;3.73;3.73;3.73;3.73;3.73	3.84	0.985	0.19779	.	1.625650	0.04094	N	0.311852	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.43702	-0.9375	10	0.12103	T	0.63	-2.6288	4.1333	0.10159	0.2252:0.2173:0.5575:0.0	.	33	Q9GZY6	NTAL_HUMAN	T	33	ENSP00000420549:A33T;ENSP00000344881:A33T;ENSP00000420494:A33T;ENSP00000417533:A33T;ENSP00000381492:A33T;ENSP00000354374:A33T;ENSP00000275635:A33T;ENSP00000419150:A33T	ENSP00000275635:A33T	A	+	1	0	LAT2	73269093	0.000000	0.05858	0.006000	0.13384	0.761000	0.43186	-0.035000	0.12205	0.200000	0.20447	0.561000	0.74099	GCA	LAT2	-	NULL	ENSG00000086730		0.552	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LAT2	HGNC	protein_coding	OTTHUMT00000277062.1		0	61	0	G			73631157	1			no_errors	ENST00000275635	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.007	A	A	73631157	G	A	73631157	3	1	138	1	0	0	0	0	1	0	0	0	8673	1319	46	3	103	3	LAT2	7	73631157	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	41713518	73631157	85507506	111	35273											
GTF2I	2969	genome.wustl.edu	37	chr7	74133241	74133241	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaacaagtgaggaccctgaAgttgaggtgactattgaagg	14	8	14	5	0	0	5	0	5	0	0	0	7	0	6	1	3	1	1	1	3	5	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:74133241A>G	ENST00000324896.4	+	12	1313	c.924A>G	c.(922-924)gaA>gaG	p.E308E	AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000416070.1_Intron|GTF2I_ENST00000353920.4_Silent_p.E288E|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Intron	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	308					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGACCCTGAAGTTGAGGTGA	0.318																																																	0													97	96	96					7																	74133241		2203	4299	6502	SO:0001819	synonymous_variant	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.924A>G	7.37:g.74133241A>G			O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Silent	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.E308	ENST00000324896.4	37	c.924	CCDS5573.1	7																																																																																			GTF2I	-	pirsf_TF_II-I	ENSG00000077809		0.318	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	-	0	55	0	A	NM_032999		74133241	1	tier1	-	no_errors	ENST00000324896	ensembl	human	known	74_37	silent	21.28	37	10	SNP	1.000	G	G	74133241	A	G	74133241	2	3	138	1	0	0	0	0	0	0	0	1	6894	69	3	4		4	GTF2I	7	74133241	Silent	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	502084	74133241	85005422	112	35274											
CACNA2D1	781	genome.wustl.edu	37	chr7	81765972	81765972	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgagatcatcctttgcattGtagtagacaacttcattgct	10	15	7	9	1	2	2	2	0	0	2	4	3	3	2	1	0	3	4	1	0	3	6			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:81765972G>A	ENST00000356253.5	-	5	630	c.375C>T	c.(373-375)taC>taT	p.Y125Y	CACNA2D1_ENST00000423588.1_Silent_p.Y125Y|CACNA2D1_ENST00000356860.3_Silent_p.Y125Y			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	125					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)	CCTTTGCATTGTAGTAGACAA	0.254																																																	0													49	50	49					7																	81765972		2194	4288	6482	SO:0001819	synonymous_variant	0			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.375C>T	7.37:g.81765972G>A			Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.Y125	ENST00000356253.5	37	c.375		7																																																																																			CACNA2D1	-	pfam_VWA_N	ENSG00000153956		0.254	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0	112	0	G			81765972	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	silent	10.00	81	9	SNP	1.000	A	A	81765972	G	A	81765972	2	1	138	1	0	0	0	0	0	0	0	1	2555	1372	48	3		3	CACNA2D1	7	81765972	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	7632731	81765972	77372691	113	35275											
RUNDC3B	154661	genome.wustl.edu	37	chr7	87370826	87370826	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcttagtttctgcctaaAgggagaggggctggatggca	8	12	15	6	0	2	1	0	0	2	1	2	3	2	2	1	5	1	3	1	5	3	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:87370826A>C	ENST00000338056.3	+	7	1022	c.611A>C	c.(610-612)aAg>aCg	p.K204T	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.K187T|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.K187T	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	204	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.							p.K204T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TTCTGCCTAAAGGGAGAGGGG	0.303																																																	1	Substitution - Missense(1)	large_intestine(1)											62	61	61					7																	87370826		2203	4298	6501	SO:0001583	missense	0				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.611A>C	7.37:g.87370826A>C	ENSP00000337732:p.Lys204Thr		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.K204T	ENST00000338056.3	37	c.611	CCDS5609.1	7	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057190	0.76074	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.28069	1.63;1.63;1.63	5.16	5.16	0.70880	RUN (3);	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.988	D;D;D;D;D	0.87578	0.998;0.998;0.994;0.994;0.919	T	0.68853	-0.5299	10	0.59425	D	0.04	-11.8876	13.9767	0.64277	1.0:0.0:0.0:0.0	.	187;187;109;187;204	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	T	204;187;187	ENSP00000337732:K204T;ENSP00000420394:K187T;ENSP00000378149:K187T	ENSP00000337732:K204T	K	+	2	0	RUNDC3B	87208762	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.489000	0.81451	1.929000	0.55896	0.533000	0.62120	AAG	RUNDC3B	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000105784		0.303	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	RUNDC3B	HGNC	protein_coding	OTTHUMT00000253679.1	-	0	140	0	A	NM_138290		87370826	1	tier1	-	no_errors	ENST00000338056	ensembl	human	known	74_37	missense	16.03	131	25	SNP	1.000	C	C	87370826	A	C	87370826	3	2	138	1	0	0	0	0	1	0	0	0	13790	72	3	4	637	4	RUNDC3B	7	87370826	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	5604854	87370826	71767837	114	35276											
PTCD1	26024	genome.wustl.edu	37	chr7	99032748	99032748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagggcgcccacattggccGcatcagcccctccctgcctc	6	6	10	19	2	1	0	1	0	0	0	3	1	2	0	6	2	2	1	6	2	1	1	rs375579760		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:99032748G>A	ENST00000292478.4	-	2	368	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.R89W|PTCD1_ENST00000485746.1_5'Flank|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R89W	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	40					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CACATTGGCCGCATCAGCCCC	0.677																																																	0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	30	32	31		265,118	-0.8	0	7		31	1,8599		0,1,4299	no	missense,missense	PTCD1,ATP5J2-PTCD1	NM_001198879.1,NM_015545.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	89/750,40/701	99032748	1,13005	2203	4300	6503	SO:0001583	missense	0			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.118C>T	7.37:g.99032748G>A	ENSP00000292478:p.Arg40Trp		Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.R89W	ENST00000292478.4	37	c.265	CCDS34691.1	7	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091716	0.36952	0.0	1.16E-4	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000437572;ENST00000413834	T;T;D;D;D;T;T	0.83837	-0.15;-0.14;-1.74;-1.75;-1.77;-1.43;-0.14	5.1	-0.768	0.11013	.	1.806900	0.03131	N	0.165177	T	0.69486	0.3116	N	0.22421	0.69	0.09310	N	1	B;B	0.17465	0.022;0.013	B;B	0.08055	0.003;0.001	T	0.53236	-0.8467	10	0.36615	T	0.2	0.0513	2.1169	0.03716	0.1764:0.3086:0.3768:0.1383	.	89;40	G3V325;O75127	.;PTCD1_HUMAN	W	40;89;40;40;40;40;89	ENSP00000292478:R40W;ENSP00000450995:R89W;ENSP00000390530:R40W;ENSP00000408059:R40W;ENSP00000401600:R40W;ENSP00000410697:R40W;ENSP00000400168:R89W	ENSP00000400168:R89W	R	-	1	2	ATP5J2-PTCD1;PTCD1	98870684	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	-0.758000	0.04766	0.160000	0.19432	0.563000	0.77884	CGG	ATP5J2-PTCD1	-	NULL	ENSG00000248919		0.677	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5J2-PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1	-	0	45	0	G	NM_015545		99032748	-1	tier1	-	no_errors	ENST00000413834	ensembl	human	known	74_37	missense	58.46	27	38	SNP	0.000	A	A	99032748	G	A	99032748	3	1	138	1	0	0	0	0	1	0	0	0	12769	1086	38	1	2012	1	PTCD1	7	99032748	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	11661922	99032748	60105915	115	35277											
MUC17	140453	genome.wustl.edu	37	chr7	100685048	100685048	+	Missense_Mutation	SNP	T	T	G	0	1	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	aaggtaccagcttgccaaccTcaactactagtgaaggaagc	14	7	9	11	0	1	1	1	1	0	0	1	2	1	2	3	2	7	2	3	2	8	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:100685048T>G	ENST00000306151.4	+	3	10415	c.10351T>G	c.(10351-10353)Tca>Gca	p.S3451A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3451	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)					CTTGCCAACCTCAACTACTAG	0.498																																																	0													236	248	244					7																	100685048		2203	4300	6503	SO:0001583	missense	0			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.10351T>G	7.37:g.100685048T>G	ENSP00000302716:p.Ser3451Ala		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S3451A	ENST00000306151.4	37	c.10351	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	T	7.411	0.634673	0.14322	.	.	ENSG00000169876	ENST00000306151	T	0.01963	4.53	1.29	0.0642	0.14352	.	.	.	.	.	T	0.02727	0.0082	N	0.14661	0.345	0.09310	N	1	P	0.52842	0.956	D	0.64410	0.925	T	0.44907	-0.9297	9	0.10111	T	0.7	.	3.5958	0.08005	0.0:0.5134:0.0:0.4866	.	3451	Q685J3	MUC17_HUMAN	A	3451	ENSP00000302716:S3451A	ENSP00000302716:S3451A	S	+	1	0	MUC17	100471768	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.473000	0.06615	0.553000	0.29044	0.156000	0.16432	TCA	MUC17	-	NULL	ENSG00000169876		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	103	0	T	NM_001040105		100685048	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	17.12	92	19	SNP	0.006	G	G	100685048	T	G	100685048	3	3	138	1	0	0	0	0	1	0	0	0	10012	1551	54	4	10361	4	MUC17	7	100685048	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	1652300	100685048	58453615	116	35278											
RELN	5649	genome.wustl.edu	37	chr7	103175830	103175830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtctgacaccaggatccGttgcagatgatagcgactgc	10	9	12	10	2	1	3	0	2	1	1	2	5	2	4	2	1	3	2	2	1	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:103175830G>A	ENST00000428762.1	-	46	7441	c.7282C>T	c.(7282-7284)Cgg>Tgg	p.R2428W	RELN_ENST00000424685.2_Missense_Mutation_p.R2428W|RELN_ENST00000343529.5_Missense_Mutation_p.R2428W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2428					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R2428W(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCAGGATCCGTTGCAGATGA	0.458																																					NSCLC(146;835 1944 15585 22231 52158)												1	Substitution - Missense(1)	kidney(1)											175	134	147					7																	103175830		2203	4300	6503	SO:0001583	missense	0				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.7282C>T	7.37:g.103175830G>A	ENSP00000392423:p.Arg2428Trp		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.R2428W	ENST00000428762.1	37	c.7282	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821598	0.71028	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22539	1.95;1.95;1.95	5.57	2.32	0.28847	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.54323	1.7	0.49915	D	0.99983	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.951	T	0.33163	-0.9879	10	0.87932	D	0	.	14.2227	0.65839	0.0:0.0:0.3047:0.6953	.	2428;2428	P78509-2;P78509	.;RELN_HUMAN	W	2428	ENSP00000392423:R2428W;ENSP00000345694:R2428W;ENSP00000388446:R2428W	ENSP00000345694:R2428W	R	-	1	2	RELN	102963066	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.032000	0.41127	0.662000	0.31006	0.655000	0.94253	CGG	RELN	-	superfamily_Sialidases	ENSG00000189056		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1		0	47	0	G	NM_005045		103175830	-1			no_errors	ENST00000424685	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	103175830	G	A	103175830	3	1	138	1	0	0	0	0	1	0	0	0	13265	1144	40	1	3180	1	RELN	7	103175830	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	2490782	103175830	55962833	117	35279											
RELN	5649	genome.wustl.edu	37	chr7	103243886	103243886	+	Silent	SNP	C	C	T	0	0	0	1	1	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	aaatctgacataattgtggaCggaagggcagcttctgggtg	11	10	14	6	1	2	1	0	1	2	0	2	3	2	3	0	4	1	2	0	4	3	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:103243886C>T	ENST00000428762.1	-	24	3357	c.3198G>A	c.(3196-3198)ccG>ccA	p.P1066P	RELN_ENST00000424685.2_Silent_p.P1066P|RELN_ENST00000343529.5_Silent_p.P1066P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1066					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)		TAATTGTGGACGGAAGGGCAG	0.517																																					NSCLC(146;835 1944 15585 22231 52158)												0													97	94	95					7																	103243886		2203	4300	6503	SO:0001819	synonymous_variant	0				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.3198G>A	7.37:g.103243886C>T			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.P1066	ENST00000428762.1	37	c.3198	CCDS47680.1	7																																																																																			RELN	-	superfamily_Growth_fac_rcpt_N_dom,superfamily_Sialidases	ENSG00000189056		0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	69	0	C	NM_005045		103243886	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	silent	11.49	77	10	SNP	0.949	T	T	103243886	C	T	103243886	2	4	138	1	0	0	0	0	0	0	0	1	13265	523	19	1		1	RELN	7	103243886	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	68056	103243886	55894777	118	35280											
DOCK4	9732	genome.wustl.edu	37	chr7	111509629	111509629	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatcaacagcatgttatcaCcttcagcacctcctggatat	11	13	5	12	0	3	0	3	0	0	0	4	1	4	1	3	1	3	3	3	1	4	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:111509629C>G	ENST00000437633.1	-	21	2366		c.e21+1		DOCK4_ENST00000476846.1_Splice_Site|DOCK4_ENST00000428084.1_Splice_Site	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						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)				CATGTTATCACCTTCAGCACC	0.443																																																	0													144	134	138					7																	111509629		2045	4197	6242	SO:0001630	splice_region_variant	0				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.2109+1G>C	7.37:g.111509629C>G			O14584|O94824|Q8NB45	Splice_Site	SNP	-	e21+1	ENST00000437633.1	37	c.2109+1	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512009	0.85389	.	.	ENSG00000128512	ENST00000352877;ENST00000423057;ENST00000428084;ENST00000437633;ENST00000445943;ENST00000342288;ENST00000544250	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1979	0.89829	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK4	111296865	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.608000	0.82898	2.781000	0.95711	0.650000	0.86243	.	DOCK4	-	-	ENSG00000128512		0.443	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	-	0	35	0	C	NM_014705	Intron	111509629	-1	tier1	-	no_errors	ENST00000428084	ensembl	human	known	74_37	splice_site	9.80	46	5	SNP	1.000	G	G	111509629	C	G	111509629	5	3	138	1	0	0	0	0	0	0	1	0	4703	521	18	5	3918	5	DOCK4	7	111509629	Splice_Site	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	8265743	111509629	47629034	119	35281											
ANKRD7	56311	genome.wustl.edu	37	chr7	117864981	117864981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagaaacttcacagagctGcttcagtcggggatttgaag	13	10	11	7	1	2	3	2	1	0	2	3	4	2	4	0	2	3	2	0	2	4	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:117864981G>C	ENST00000265224.4	+	1	252	c.97G>C	c.(97-99)Gct>Cct	p.A33P	ANKRD7_ENST00000477532.1_Intron|ANKRD7_ENST00000417525.1_5'UTR|ANKRD7_ENST00000433239.1_5'UTR|ANKRD7_ENST00000357099.4_Missense_Mutation_p.A33P	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	33					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						TCACAGAGCTGCTTCAGTCGG	0.433																																																	0													90	90	90					7																	117864981		1830	4087	5917	SO:0001583	missense	0			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.97G>C	7.37:g.117864981G>C	ENSP00000265224:p.Ala33Pro		B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A33P	ENST00000265224.4	37	c.97	CCDS43638.1	7	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153054	0.78001	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000486422	T;T;T	0.73047	-0.71;-0.71;-0.71	4.13	3.24	0.37175	Ankyrin repeat-containing domain (4);	0.000000	0.36482	U	0.002578	D	0.87337	0.6152	H	0.98629	4.285	0.47698	D	0.999495	D	0.64830	0.994	P	0.60012	0.867	D	0.89280	0.3611	10	0.87932	D	0	-0.4589	9.6209	0.39721	0.1038:0.0:0.8962:0.0	.	33	Q92527	ANKR7_HUMAN	P	33	ENSP00000349612:A33P;ENSP00000265224:A33P;ENSP00000417353:A33P	ENSP00000265224:A33P	A	+	1	0	ANKRD7	117652217	0.772000	0.28567	0.166000	0.22797	0.543000	0.35085	1.903000	0.39858	1.115000	0.41800	0.543000	0.68304	GCT	ANKRD7	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000106013		0.433	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD7	HGNC	protein_coding	OTTHUMT00000346826.1	-	0	26	0	G	NM_001077708		117864981	1	tier1	-	no_errors	ENST00000357099	ensembl	human	known	74_37	missense	16.67	35	7	SNP	0.992	C	C	117864981	G	C	117864981	3	2	138	1	0	0	0	0	1	0	0	0	686	1319	46	5	99	5	ANKRD7	7	117864981	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	6355352	117864981	41273682	120	35282											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121695040	121695040	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaataaagatgagcctataAattgtgagagctttaaggtc	16	11	9	5	0	0	3	0	2	0	2	1	4	0	3	1	1	2	1	1	1	7	6			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:121695040A>G	ENST00000393386.2	+	27	6838	c.6427A>G	c.(6427-6429)Aat>Gat	p.N2143D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N1276D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2143	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						TGAGCCTATAAATTGTGAGAG	0.328																																																	0													90	93	92					7																	121695040		2203	4298	6501	SO:0001583	missense	0			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.6427A>G	7.37:g.121695040A>G	ENSP00000377047:p.Asn2143Asp		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.N2143D	ENST00000393386.2	37	c.6427	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110303	0.77210	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	D;D	0.83419	-1.72;-1.72	5.96	5.96	0.96718	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.142113	0.48767	D	0.000163	D	0.85982	0.5824	L	0.31578	0.945	0.31785	N	0.630386	P;B;D	0.63046	0.867;0.036;0.992	B;B;D	0.65684	0.359;0.105;0.937	D	0.87793	0.2620	10	0.72032	D	0.01	.	16.4293	0.83835	1.0:0.0:0.0:0.0	.	1282;1276;2143	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	D	2143;1276	ENSP00000377047:N2143D;ENSP00000410000:N1276D	ENSP00000377047:N2143D	N	+	1	0	PTPRZ1	121482276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.401000	0.79962	2.271000	0.75665	0.528000	0.53228	AAT	PTPRZ1	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000106278		0.328	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0	38	0	A	NM_002851		121695040	1	tier1	-	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	G	G	121695040	A	G	121695040	3	3	138	1	0	0	0	0	1	0	0	0	12859	14	1	4	6533	4	PTPRZ1	7	121695040	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	3830059	121695040	37443623	121	35283											
NRF1	4899	genome.wustl.edu	37	chr7	129350386	129350386	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccagacttttagtaaccCtgatggcactgtctcactta	10	13	7	11	0	1	2	1	1	1	1	3	2	2	2	2	1	1	2	2	1	3	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:129350386C>G	ENST00000393232.1	+	7	1055	c.938C>G	c.(937-939)cCt>cGt	p.P313R	NRF1_ENST00000393231.3_Missense_Mutation_p.P313R|NRF1_ENST00000223190.4_Missense_Mutation_p.P313R|NRF1_ENST00000311967.2_Missense_Mutation_p.P313R|NRF1_ENST00000353868.4_Intron|NRF1_ENST00000393230.2_Missense_Mutation_p.P313R|NRF1_ENST00000539636.1_Missense_Mutation_p.P152R	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	313	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						TTTAGTAACCCTGATGGCACT	0.483																																																	0													157	135	142					7																	129350386		2203	4300	6503	SO:0001583	missense	0			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.938C>G	7.37:g.129350386C>G	ENSP00000376924:p.Pro313Arg		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd	p.P313R	ENST00000393232.1	37	c.938	CCDS5813.2	7	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874163	0.91664	.	.	ENSG00000106459	ENST00000393232;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.88720	0.6513	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.946	D	0.86936	0.2076	10	0.45353	T	0.12	-10.5697	19.8676	0.96824	0.0:1.0:0.0:0.0	.	313;313	Q96AN2;Q16656	.;NRF1_HUMAN	R	313;152;313;313;313;313	ENSP00000376924:P313R;ENSP00000440455:P152R;ENSP00000223190:P313R;ENSP00000309826:P313R;ENSP00000376922:P313R;ENSP00000376923:P313R	ENSP00000223190:P313R	P	+	2	0	NRF1	129137622	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.773000	0.85462	2.941000	0.99782	0.655000	0.94253	CCT	NRF1	-	NULL	ENSG00000106459		0.483	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NRF1	HGNC	protein_coding	OTTHUMT00000289813.1		0	39	0	C	NM_001040110		129350386	1			no_errors	ENST00000393231	ensembl	human	known	74_37	missense	9.52	37	4	SNP	1.000	G	G	129350386	C	G	129350386	3	3	138	1	0	0	0	0	1	0	0	0	10685	681	24	5	960	5	NRF1	7	129350386	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	7655346	129350386	29788277	122	35284											
PLXNA4	91584	genome.wustl.edu	37	chr7	131853149	131853149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcagcacatcagtggcGtactccagcttgctctgcag	7	11	10	13	1	3	0	2	0	1	0	4	0	4	0	1	1	6	6	1	1	1	3	rs200917567		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:131853149G>A	ENST00000359827.3	-	22	5162	c.4200C>T	c.(4198-4200)taC>taT	p.Y1400Y	PLXNA4_ENST00000321063.4_Silent_p.Y1400Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1400					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						CATCAGTGGCGTACTCCAGCT	0.592													G|||	1	0.000199681	8e-04	0	5008	,	,		23275	0		0	False		,,,				2504	0																0								G		1,4405	2.1+/-5.4	0,1,2202	82	83	83		4200	-5.5	0.8	7		83	0,8600		0,0,4300	no	coding-synonymous	PLXNA4	NM_020911.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1400/1895	131853149	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.4200C>T	7.37:g.131853149G>A			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.Y1400	ENST00000359827.3	37	c.4200	CCDS43646.1	7																																																																																			PLXNA4	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000221866		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	56	0	G	NM_181775		131853149	-1	tier1	rs200917567	no_errors	ENST00000321063	ensembl	human	known	74_37	silent	14.71	29	5	SNP	0.119	A	A	131853149	G	A	131853149	2	1	138	1	0	0	0	0	0	0	0	1	12161	1140	40	1		1	PLXNA4	7	131853149	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	2502763	131853149	27285514	123	35285											
PLXNA4	91584	genome.wustl.edu	37	chr7	131865470	131865470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cttcacgttgcccccagccaCaggcgggatcaggttcttgc	6	9	11	15	2	3	0	2	0	1	0	3	1	3	1	3	3	3	2	3	3	0	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr7:131865470C>A	ENST00000359827.3	-	19	4476	c.3514G>T	c.(3514-3516)Gtg>Ttg	p.V1172L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V1172L			Q9HCM2	PLXA4_HUMAN	plexin A4	1172	IPT/TIG 4.				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						CCCCCAGCCACAGGCGGGATC	0.597																																																	0													50	53	52					7																	131865470		2065	4212	6277	SO:0001583	missense	0			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.3514G>T	7.37:g.131865470C>A	ENSP00000352882:p.Val1172Leu		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.V1172L	ENST00000359827.3	37	c.3514	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179341	0.38511	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.58210	0.35;0.35	5.38	4.47	0.54385	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.304626	0.35805	N	0.002966	T	0.38612	0.1047	N	0.22421	0.69	0.38023	D	0.934921	B	0.25351	0.124	B	0.24701	0.055	T	0.26155	-1.0111	10	0.17369	T	0.5	.	15.1734	0.72894	0.1421:0.8579:0.0:0.0	.	1172	Q9HCM2	PLXA4_HUMAN	L	1172	ENSP00000323194:V1172L;ENSP00000352882:V1172L	ENSP00000323194:V1172L	V	-	1	0	PLXNA4	131516010	0.998000	0.40836	0.658000	0.29665	0.936000	0.57629	3.691000	0.54720	1.229000	0.43630	0.561000	0.74099	GTG	PLXNA4	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000221866		0.597	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2		0	55	0	C	NM_181775		131865470	-1			no_errors	ENST00000321063	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.985	A	A	131865470	C	A	131865470	3	1	138	1	0	0	0	0	1	0	0	0	12161	478	17	3	2226	3	PLXNA4	7	131865470	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	12321	131865470	27273193	124	35286											
GPR124	25960	genome.wustl.edu	37	chr8	37687410	37687410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgtgactgccacctgcGctggctgctgccctgggccc	3	8	13	17	1	0	1	0	1	0	0	0	2	0	1	5	2	4	3	5	2	0	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr8:37687410G>A	ENST00000412232.2	+	6	609	c.596G>A	c.(595-597)cGc>cAc	p.R199H	GPR124_ENST00000315215.7_Missense_Mutation_p.R199H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	199	LRRCT.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGCCACCTGCGCTGGCTGCTG	0.667																																																	0													45	44	44					8																	37687410		2202	4298	6500	SO:0001583	missense	0			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.596G>A	8.37:g.37687410G>A	ENSP00000406367:p.Arg199His		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.R199H	ENST00000412232.2	37	c.596	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675658	0.47781	.	.	ENSG00000020181	ENST00000428068;ENST00000416514;ENST00000315215;ENST00000412232	D;D;D	0.90385	-2.66;-2.66;-2.66	5.21	1.18	0.20946	Cysteine-rich flanking region, C-terminal (1);	0.272209	0.35262	N	0.003334	T	0.81650	0.4867	L	0.57536	1.79	0.41863	D	0.990231	P;B	0.42993	0.797;0.002	B;B	0.30716	0.119;0.001	T	0.74127	-0.3765	10	0.15066	T	0.55	-5.5257	6.3853	0.21558	0.2129:0.0:0.6523:0.1348	.	199;199	Q96PE1-2;Q96PE1	.;GP124_HUMAN	H	157;192;199;199	ENSP00000400860:R157H;ENSP00000323508:R199H;ENSP00000406367:R199H	ENSP00000323508:R199H	R	+	2	0	GPR124	37806568	0.337000	0.24766	0.995000	0.50966	0.949000	0.60115	0.375000	0.20518	0.169000	0.19679	0.462000	0.41574	CGC	GPR124	-	smart_Cys-rich_flank_reg_C	ENSG00000020181		0.667	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	-	0	30	0	G			37687410	1	tier1	-	no_errors	ENST00000412232	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	A	A	37687410	G	A	37687410	3	1	138	1	0	0	0	0	1	0	0	0	6664	1087	38	1	597	1	GPR124	8	37687410	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09		37687410	108676612	125	35287											
ADAM18	8749	genome.wustl.edu	37	chr8	39466580	39466580	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcattcttaccccagaacTttttggtttatacatataat	12	17	4	8	0	2	1	1	0	1	1	2	2	2	1	2	1	3	1	2	1	6	9			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr8:39466580T>G	ENST00000265707.5	+	4	253	c.208T>G	c.(208-210)Ttt>Gtt	p.F70V	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.F70V|ADAM18_ENST00000520772.1_Missense_Mutation_p.F70V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	70					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ACCCCAGAACTTTTTGGTTTA	0.229																																																	0													50	52	51					8																	39466580		2199	4287	6486	SO:0001583	missense	0			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.208T>G	8.37:g.39466580T>G	ENSP00000265707:p.Phe70Val		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.F70V	ENST00000265707.5	37	c.208	CCDS6113.1	8	.	.	.	.	.	.	.	.	.	.	T	9.895	1.205339	0.22205	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000520772;ENST00000522198	T;T;T	0.07444	3.19;3.19;3.19	4.53	3.34	0.38264	Peptidase M12B, propeptide (1);	0.000000	0.46758	D	0.000277	T	0.30854	0.0778	M	0.91717	3.235	0.20563	N	0.999887	D;D;D	0.67145	0.996;0.996;0.983	D;D;D	0.74023	0.969;0.982;0.98	T	0.13045	-1.0524	10	0.87932	D	0	.	7.1563	0.25639	0.0:0.1008:0.0:0.8992	.	70;70;70	Q9Y3Q7-2;Q9Y3Q7;Q6IRW9	.;ADA18_HUMAN;.	V	70;70;70;26	ENSP00000265707:F70V;ENSP00000369195:F70V;ENSP00000429908:F70V	ENSP00000265707:F70V	F	+	1	0	ADAM18	39585737	0.980000	0.34600	0.011000	0.14972	0.046000	0.14306	2.183000	0.42565	1.023000	0.39654	0.533000	0.62120	TTT	ADAM18	-	pfam_Peptidase_M12B_N	ENSG00000168619		0.229	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	-	0	55	0	T	NM_014237		39466580	1	tier1	-	no_errors	ENST00000265707	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.021	G	G	39466580	T	G	39466580	3	3	138	1	0	0	0	0	1	0	0	0	239	1609	56	4	222	4	ADAM18	8	39466580	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	1779170	39466580	106897442	126	35288											
KIAA0146	23514	genome.wustl.edu	37	chr8	48614549	48614549	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtacccgttgcagtttctAtgccacggtgatttaccaaa	9	13	9	10	2	1	1	0	1	1	0	1	1	1	1	3	2	4	4	3	2	4	6	rs531434787		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr8:48614549A>G	ENST00000297423.4	+	14	2333	c.1949A>G	c.(1948-1950)tAt>tGt	p.Y650C	SPIDR_ENST00000517693.1_Missense_Mutation_p.Y125C|SPIDR_ENST00000541342.1_Missense_Mutation_p.Y580C|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.Y590C	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	650					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)											TGCAGTTTCTATGCCACGGTG	0.433																																																	0													114	107	109					8																	48614549		1898	4127	6025	SO:0001583	missense	0			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.1949A>G	8.37:g.48614549A>G	ENSP00000297423:p.Tyr650Cys		B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	NULL	p.Y650C	ENST00000297423.4	37	c.1949	CCDS43737.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.355|9.355	1.066626|1.066626	0.20067|0.20067	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000519401|ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362;ENST00000522321;ENST00000518692;ENST00000521056	.|.	.|.	.|.	5.61|5.61	0.491|0.491	0.16867|0.16867	.|.	.|0.766226	.|0.12963	.|N	.|0.424868	T|T	0.31104|0.31104	0.0786|0.0786	L|L	0.47716|0.47716	1.5|1.5	0.28920|0.28920	N|N	0.892167|0.892167	.|B;B;B;B;B;B;B	.|0.25743	.|0.028;0.028;0.133;0.009;0.063;0.028;0.009	.|B;B;B;B;B;B;B	.|0.25759	.|0.018;0.018;0.063;0.007;0.026;0.018;0.007	T|T	0.22382|0.22382	-1.0218|-1.0218	5|9	.|0.33940	.|T	.|0.23	.|.	5.4592|5.4592	0.16607|0.16607	0.4822:0.1512:0.3666:0.0|0.4822:0.1512:0.3666:0.0	.|.	.|140;155;590;580;650;125;650	.|B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B3KP42;Q14159	.|.;.;.;.;.;.;K0146_HUMAN	V|C	332|650;590;580;155;125;125;11;11;11	.|.	.|ENSP00000297423:Y650C	M|Y	+|+	1|2	0|0	KIAA0146|KIAA0146	48777102|48777102	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.487000|0.487000	0.33371|0.33371	1.022000|1.022000	0.30052|0.30052	-0.129000|-0.129000	0.11620|0.11620	0.529000|0.529000	0.55759|0.55759	ATG|TAT	SPIDR	-	NULL	ENSG00000164808		0.433	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIDR	HGNC	protein_coding	OTTHUMT00000377611.1	-	0	58	0	A	NM_001080394		48614549	1	tier1	-	no_errors	ENST00000297423	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.989	G	G	48614549	A	G	48614549	3	3	138	1	0	0	0	0	1	0	0	0	8184	449	16	4	2003	4	KIAA0146	8	48614549	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	9147969	48614549	97749473	127	35289											
TRIM55	84675	genome.wustl.edu	37	chr8	67062654	67062654	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgaaccacttcacagtcaAcctcaatagagaagaaaaga	19	6	6	10	0	3	4	3	1	0	3	3	5	3	4	2	0	2	0	2	0	7	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr8:67062654A>C	ENST00000315962.4	+	7	1311	c.938A>C	c.(937-939)aAc>aCc	p.N313T	TRIM55_ENST00000276573.7_Missense_Mutation_p.N313T|TRIM55_ENST00000353317.5_Missense_Mutation_p.N313T|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	313	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				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)			TTCACAGTCAACCTCAATAGA	0.403																																																	0													108	103	105					8																	67062654		2203	4300	6503	SO:0001583	missense	0			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.938A>C	8.37:g.67062654A>C	ENSP00000323913:p.Asn313Thr		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.N313T	ENST00000315962.4	37	c.938	CCDS6184.1	8	.	.	.	.	.	.	.	.	.	.	A	16.32	3.090279	0.55968	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.33654	1.4;1.42;1.44	5.84	5.84	0.93424	COS domain (1);	0.292488	0.44483	D	0.000447	T	0.39682	0.1087	L	0.50333	1.59	0.80722	D	1	P;B;B	0.35821	0.523;0.07;0.249	B;B;B	0.38842	0.283;0.131;0.274	T	0.33420	-0.9869	10	0.87932	D	0	.	16.226	0.82293	1.0:0.0:0.0:0.0	.	313;313;313	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	T	313	ENSP00000323913:N313T;ENSP00000297348:N313T;ENSP00000276573:N313T	ENSP00000276573:N313T	N	+	2	0	TRIM55	67225208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.090000	0.64498	2.230000	0.72887	0.528000	0.53228	AAC	TRIM55	-	NULL	ENSG00000147573		0.403	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1	-	0	42	0	A	NM_184085		67062654	1	tier1	-	no_errors	ENST00000315962	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	C	C	67062654	A	C	67062654	3	2	138	1	0	0	0	0	1	0	0	0	16577	43	2	4	964	4	TRIM55	8	67062654	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	18448105	67062654	79301368	128	35290											
STAU2	27067	genome.wustl.edu	37	chr8	74515978	74515978	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctgcatcacaaattctcGacgtcgaggcattcctcttt	9	13	6	13	3	3	0	1	0	2	0	6	2	4	0	2	1	2	2	2	1	2	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr8:74515978G>A	ENST00000521451.1	-	5	728	c.352C>T	c.(352-354)Cga>Tga	p.R118*	STAU2_ENST00000519961.1_Nonsense_Mutation_p.R338*|STAU2_ENST00000523558.1_Nonsense_Mutation_p.R166*|STAU2_ENST00000517542.1_Nonsense_Mutation_p.R300*|STAU2_ENST00000521210.1_Nonsense_Mutation_p.R234*|STAU2_ENST00000524300.1_Nonsense_Mutation_p.R338*|STAU2_ENST00000522695.1_Nonsense_Mutation_p.R306*|STAU2_ENST00000355780.5_Nonsense_Mutation_p.R306*|STAU2_ENST00000521727.1_Nonsense_Mutation_p.R318*|STAU2_ENST00000522509.1_Nonsense_Mutation_p.R306*			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	338	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			ACAAATTCTCGACGTCGAGGC	0.428																																																	0													81	79	80					8																	74515978		2203	4300	6503	SO:0001587	stop_gained	0			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.352C>T	8.37:g.74515978G>A	ENSP00000428476:p.Arg118*		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Nonsense_Mutation	SNP	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.R338*	ENST00000521451.1	37	c.1012		8	.	.	.	.	.	.	.	.	.	.	G	36	5.943132	0.97128	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542;ENST00000518767	.	.	.	5.73	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.3988	13.3936	0.60836	0.0:0.0:0.7245:0.2754	.	.	.	.	X	306;338;166;234;306;338;318;118;306;300;166	.	ENSP00000344030:R166X	R	-	1	2	STAU2	74678532	0.980000	0.34600	1.000000	0.80357	0.996000	0.88848	1.409000	0.34680	2.706000	0.92434	0.585000	0.79938	CGA	STAU2	-	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	ENSG00000040341		0.428	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	STAU2	HGNC	protein_coding	OTTHUMT00000379006.4	-	0	75	0	G	NM_001164380		74515978	-1	tier1	-	no_errors	ENST00000524300	ensembl	human	known	74_37	nonsense	14.93	57	10	SNP	0.993	A	A	74515978	G	A	74515978	4	1	138	1	0	0	0	0	0	1	0	0	15320	1066	37	1	848	1	STAU2	8	74515978	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	7453324	74515978	71848044	129	35291											
PTDSS1	9791	genome.wustl.edu	37	chr8	97321829	97321829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacacagtgcaagcgcgtagGaacacaatgctgggtgtttg	11	8	13	9	2	0	0	0	0	0	0	0	1	0	1	0	2	4	4	0	2	4	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr8:97321829G>A	ENST00000517309.1	+	9	1378	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	PTDSS1_ENST00000455950.2_Missense_Mutation_p.G205E|Y_RNA_ENST00000362862.1_RNA|PTDSS1_ENST00000522072.1_Missense_Mutation_p.G148E	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	351					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.G351A(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AAGCGCGTAGGAACACAATGC	0.428																																																	1	Substitution - Missense(1)	lung(1)											99	91	94					8																	97321829		2203	4300	6503	SO:0001583	missense	0			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1052G>A	8.37:g.97321829G>A	ENSP00000430548:p.Gly351Glu		E5RFC5|Q9BUQ5	Missense_Mutation	SNP	pfam_PSS	p.G351E	ENST00000517309.1	37	c.1052	CCDS6271.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.348796	0.95807	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.68903	-0.36;-0.19;-0.33	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.86957	0.6058	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89721	0.3919	10	0.87932	D	0	-14.6411	18.224	0.89911	0.0:0.0:1.0:0.0	.	351	P48651	PTSS1_HUMAN	E	351;205;148	ENSP00000430548:G351E;ENSP00000401248:G205E;ENSP00000430928:G148E	ENSP00000401248:G205E	G	+	2	0	PTDSS1	97391005	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.837000	0.99465	2.731000	0.93534	0.650000	0.86243	GGA	PTDSS1	-	pfam_PSS	ENSG00000156471		0.428	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS1	HGNC	protein_coding	OTTHUMT00000379743.2	-	0	66	0	G			97321829	1	tier1	-	no_errors	ENST00000517309	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	97321829	G	A	97321829	3	1	138	1	0	0	0	0	1	0	0	0	12778	1174	41	3	1086	3	PTDSS1	8	97321829	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	22805851	97321829	49042193	130	35292											
STK3	6788	genome.wustl.edu	37	chr8	99761534	99761534	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaatctaattatgtctgaGacagagccagcgccacagta	13	9	9	10	2	2	2	0	1	2	2	2	3	2	2	2	0	2	2	2	0	4	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr8:99761534G>T	ENST00000419617.2	-	4	461	c.321C>A	c.(319-321)gtC>gtA	p.V107V	STK3_ENST00000523601.1_Silent_p.V135V	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TTATGTCTGAGACAGAGCCAG	0.323																																																	0													87	86	86					8																	99761534		1903	4157	6060	SO:0001819	synonymous_variant	0			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.321C>A	8.37:g.99761534G>T			A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom	p.V107	ENST00000419617.2	37	c.321	CCDS47900.1	8																																																																																			STK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000104375		0.323	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK3	HGNC	protein_coding	OTTHUMT00000379635.1	-	0	136	0	G	NM_006281		99761534	-1	tier1	-	no_errors	ENST00000419617	ensembl	human	known	74_37	silent	7.50	111	9	SNP	1.000	T	T	99761534	G	T	99761534	2	4	138	1	0	0	0	0	0	0	0	1	15342	929	33	3		3	STK3	8	99761534	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	2439705	99761534	46602488	131	35293											
RIMS2	9699	genome.wustl.edu	37	chr8	104973332	104973332	+	Missense_Mutation	SNP	A	A	G	1	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	tagtgaagtctctgactatgActgtgatgatggaattggtg	10	14	13	4	0	1	5	0	5	1	0	2	6	1	6	0	2	0	0	0	2	4	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr8:104973332A>G	ENST00000436393.2	+	13	2316	c.2075A>G	c.(2074-2076)gAc>gGc	p.D692G	RIMS2_ENST00000406091.3_Missense_Mutation_p.D914G|RIMS2_ENST00000507740.1_Missense_Mutation_p.D706G|RIMS2_ENST00000262231.10_Missense_Mutation_p.D753G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	976	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			TCTGACTATGACTGTGATGAT	0.289										HNSCC(12;0.0054)																																							0													106	114	112					8																	104973332		1799	4058	5857	SO:0001583	missense	0			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.2075A>G	8.37:g.104973332A>G	ENSP00000390665:p.Asp692Gly		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.D914G	ENST00000436393.2	37	c.2741		8	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205735	0.79127	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.24151	1.87;2.36;1.97;1.98;1.91;2.19	5.95	5.95	0.96441	.	.	.	.	.	T	0.48732	0.1516	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.997;0.997;0.997;0.999;1.0	P;D;D;D;D;D	0.91635	0.876;0.979;0.993;0.995;0.998;0.999	T	0.41052	-0.9530	9	0.40728	T	0.16	.	13.9284	0.63978	1.0:0.0:0.0:0.0	.	976;976;692;753;706;914	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	G	914;929;914;976;753;706;706;692	ENSP00000427018:D914G;ENSP00000384892:D914G;ENSP00000262231:D753G;ENSP00000423559:D706G;ENSP00000386228:D706G;ENSP00000390665:D692G	ENSP00000262231:D753G	D	+	2	0	RIMS2	105042508	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.042000	0.76565	2.279000	0.76181	0.402000	0.26972	GAC	RIMS2	-	NULL	ENSG00000176406		0.289	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1		0	52	0	A	NM_001100117		104973332	1			no_errors	ENST00000406091	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	G	G	104973332	A	G	104973332	3	3	138	1	0	0	0	0	1	0	0	0	13413	275	10	4	2925	4	RIMS2	8	104973332	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	5211798	104973332	41390690	132	35294											
COL14A1	7373	genome.wustl.edu	37	chr8	121302004	121302004	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtggaaactctgcacCggtaagtgaataaacccgtg	13	7	11	10	2	1	1	0	1	1	0	1	2	1	2	3	3	3	2	3	3	5	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr8:121302004C>T	ENST00000297848.3	+	34	4505	c.4235C>T	c.(4234-4236)cCg>cTg	p.P1412L	COL14A1_ENST00000247781.3_Splice_Site_p.P1317L|COL14A1_ENST00000309791.4_Splice_Site_p.P1412L	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)			AACTCTGCACCGGTAAGTGAA	0.408																																																	0													114	105	108					8																	121302004		2203	4300	6503	SO:0001630	splice_region_variant	0				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.4236+1C>T	8.37:g.121302004C>T				Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P1412L	ENST00000297848.3	37	c.4235	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360594	0.61403	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.02158	4.42;4.42;4.42	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.098392	0.64402	D	0.000001	T	0.06962	0.0177	M	0.73598	2.24	0.80722	D	1	D	0.60160	0.987	P	0.44772	0.46	T	0.03086	-1.1074	10	0.66056	D	0.02	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1412	Q05707	COEA1_HUMAN	L	1412;1412;1317	ENSP00000311809:P1412L;ENSP00000297848:P1412L;ENSP00000247781:P1317L	ENSP00000247781:P1317L	P	+	2	0	COL14A1	121371185	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	7.213000	0.77950	2.894000	0.99253	0.591000	0.81541	CCG	COL14A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000187955		0.408	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2		0	56	0	C	NM_021110	Missense_Mutation	121302004	1			no_errors	ENST00000297848	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	121302004	C	T	121302004	5	4	138	1	0	0	0	0	0	0	1	0	3678	666	23	1	4365	1	COL14A1	8	121302004	Splice_Site	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	16328672	121302004	25062018	133	35295											
DERL1	79139	genome.wustl.edu	37	chr8	124054254	124054254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccagaggaagaggtaggCcgggctgatgaggccgagtt	9	5	20	7	2	0	4	0	2	0	2	0	6	0	5	3	6	0	3	3	6	2	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr8:124054254C>T	ENST00000259512.4	-	1	409	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	DERL1_ENST00000419562.2_Missense_Mutation_p.A37T|RNY4P5_ENST00000362808.1_RNA|DERL1_ENST00000405944.3_Missense_Mutation_p.A37T	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	37					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGAGGTAGGCCGGGCTGATG	0.652																																																	0													64	55	58					8																	124054254		2203	4300	6503	SO:0001583	missense	0			BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.109G>A	8.37:g.124054254C>T	ENSP00000259512:p.Ala37Thr		B3KW41|E9PH19	Missense_Mutation	SNP	pfam_DER1	p.A37T	ENST00000259512.4	37	c.109	CCDS6337.1	8	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050114	0.19827	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562	T;T;T	0.29655	2.79;1.57;1.56	5.27	3.34	0.38264	.	0.468764	0.25657	N	0.029165	T	0.16557	0.0398	N	0.08118	0	0.80722	D	1	B;B;B	0.16396	0.017;0.0;0.0	B;B;B	0.22880	0.042;0.001;0.003	T	0.05903	-1.0857	10	0.30078	T	0.28	.	12.4087	0.55455	0.0:0.8431:0.0:0.1569	.	37;37;37	B4E1G1;Q9BUN8-2;Q9BUN8	.;.;DERL1_HUMAN	T	37	ENSP00000259512:A37T;ENSP00000384289:A37T;ENSP00000389965:A37T	ENSP00000259512:A37T	A	-	1	0	DERL1	124123435	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	3.022000	0.49659	1.467000	0.48044	0.453000	0.30009	GCC	DERL1	-	pfam_DER1	ENSG00000136986		0.652	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL1	HGNC	protein_coding	OTTHUMT00000381714.2		0	75	0	C	NM_024295		124054254	-1			no_errors	ENST00000259512	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.994	T	T	124054254	C	T	124054254	3	4	138	1	0	0	0	0	1	0	0	0	4460	739	26	3	678	3	DERL1	8	124054254	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	2752250	124054254	22309768	134	35296											
EPPK1	83481	genome.wustl.edu	37	chr8	144941802	144941802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccccagtcctccccacacGaagtgtgtgcagggtcttct	6	10	9	16	1	2	0	0	0	2	0	5	1	5	0	5	1	1	1	5	1	1	1	rs372213876		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr8:144941802G>A	ENST00000525985.1	-	2	5691	c.5620C>T	c.(5620-5622)Cgt>Tgt	p.R1874C				P58107	EPIPL_HUMAN	epiplakin 1	1874						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)			CTCCCCACACGAAGTGTGTGC	0.607													g|||	1	0.000199681	0	0	5008	,	,		18897	0		0.001	False		,,,				2504	0																0								A	CYS/ARG	0,4166		0,0,2083	90	89	89		5620	1.4	0	8		89	1,8415		0,1,4207	no	missense	EPPK1	NM_031308.1	180	0,1,6290	AA,AG,GG		0.0119,0.0,0.0079	benign	1874/2420	144941802	1,12581	2083	4208	6291	SO:0001583	missense	0			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.5620C>T	8.37:g.144941802G>A	ENSP00000436337:p.Arg1874Cys		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.R1874C	ENST00000525985.1	37	c.5620		8	.	.	.	.	.	.	.	.	.	.	g	10.56	1.383718	0.25031	0.0	1.19E-4	ENSG00000227184	ENST00000525985	T	0.69561	-0.41	5.1	1.38	0.22167	.	.	.	.	.	T	0.50103	0.1596	L	0.27053	0.805	0.09310	N	1	B	0.16603	0.018	B	0.06405	0.002	T	0.39702	-0.9601	9	0.52906	T	0.07	.	7.4902	0.27458	0.4336:0.0:0.5664:0.0	.	1874	E9PPU0	.	C	1874	ENSP00000436337:R1874C	ENSP00000436337:R1874C	R	-	1	0	EPPK1	145013790	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.125000	0.10579	0.076000	0.16826	-0.924000	0.02725	CGT	EPPK1	-	NULL	ENSG00000227184		0.607	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0	50	0	G	NM_031308		144941802	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.000	A	A	144941802	G	A	144941802	3	1	138	1	0	0	0	0	1	0	0	0	5206	1058	37	1	1646	1	EPPK1	8	144941802	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	20887548	144941802	1422220	135	35297											
C9orf11	54586	genome.wustl.edu	37	chr9	27284831	27284831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgcctgatcttctcatatCtgaagaagtggtacccaaaa	12	12	8	9	0	3	3	1	2	3	1	4	3	3	3	2	1	2	1	2	1	6	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr9:27284831C>G	ENST00000380032.3	-	8	858	c.775G>C	c.(775-777)Gat>Cat	p.D259H	EQTN_ENST00000537675.1_Missense_Mutation_p.D230H|LINC00032_ENST00000425633.1_lincRNA	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	259					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											CTTCTCATATCTGAAGAAGTG	0.418																																																	0													151	135	140					9																	27284831		2203	4300	6503	SO:0001583	missense	0			AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"Acr formation associated factor", "Acrosome formation associated factor", "sperm acrosome associated 8"		"chromosome 9 open reading frame 11", "equatorin"	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.775G>C	9.37:g.27284831C>G	ENSP00000369371:p.Asp259His		B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Missense_Mutation	SNP	NULL	p.D259H	ENST00000380032.3	37	c.775	CCDS35001.1	9	.	.	.	.	.	.	.	.	.	.	.	17.68	3.450149	0.63290	.	.	ENSG00000120160	ENST00000537675;ENST00000380032	T;T	0.36699	1.24;1.65	5.32	5.32	0.75619	.	0.354181	0.24678	N	0.036490	T	0.44498	0.1296	N	0.22421	0.69	0.26626	N	0.972551	D;D	0.76494	0.999;0.995	D;P	0.65443	0.935;0.855	T	0.35450	-0.9788	10	0.72032	D	0.01	.	14.357	0.66745	0.0:1.0:0.0:0.0	.	230;259	B7ZMK1;Q9NQ60	.;AFAF_HUMAN	H	230;259	ENSP00000441630:D230H;ENSP00000369371:D259H	ENSP00000369371:D259H	D	-	1	0	C9orf11	27274831	0.994000	0.37717	0.951000	0.38953	0.009000	0.06853	3.210000	0.51129	2.760000	0.94817	0.591000	0.81541	GAT	EQTN	-	NULL	ENSG00000120160		0.418	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EQTN	HGNC	protein_coding	OTTHUMT00000055499.1	-	0	95	0	C	NM_020641		27284831	-1	tier1	-	no_errors	ENST00000380032	ensembl	human	known	74_37	missense	42.11	55	40	SNP	0.736	G	G	27284831	C	G	27284831	3	3	138	1	0	0	0	0	1	0	0	0	2455	913	32	5	113	5	C9orf11	9	27284831	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09		27284831	113928600	136	35298											
MAMDC2	256691	genome.wustl.edu	37	chr9	72840670	72840672	+	In_Frame_Del	DEL	TTT	TTT	-																															catattattctttcagataaTttttgaagccattcgaggag																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr9:72840670_72840672delTTT	ENST00000377182.4	+	13	2533_2535	c.1916_1918delTTT	c.(1915-1920)attttt>att	p.F640del	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	640	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTTCAGATAATTTTTGAAGCCAT	0.345																																																	0																																										SO:0001651	inframe_deletion	0			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1916_1918delTTT	9.37:g.72840670_72840672delTTT	ENSP00000366387:p.Phe640del		Q5VW47|Q8WX43|Q96BM4	In_Frame_Del	DEL	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.F640in_frame_del	ENST00000377182.4	37	c.1916_1918	CCDS6631.1	9																																																																																			MAMDC2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	ENSG00000165072		0.345	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1		0	56	0	TTT	NM_153267		72840672	1	tier1		no_errors	ENST00000377182	ensembl	human	known	74_37	in_frame_del	16.18	57	11	DEL	1.000:0.997:1.000	-	-	72840672	TTT	-	72840670	7	5	138	1	0	1	0	1	0	0	0	0	9241	1493	52	0	1966	0	MAMDC2	9	72840670	In_Frame_Del	DEL	TTT	TCGA-Q9-A6FW-01A-31D-A31U-09	45555839	72840670	68372761	137	35299											
OR1J4	26219	genome.wustl.edu	37	chr9	125282234	125282234	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcctccagtgacaaggacgTaattgcctctgtgatgtaca	10	11	10	10	1	1	2	0	2	1	0	2	3	2	3	3	1	3	2	3	1	3	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr9:125282234T>C	ENST00000340750.1	+	1	815	c.815T>C	c.(814-816)gTa>gCa	p.V272A		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GACAAGGACGTAATTGCCTCT	0.488																																																	0													130	116	120					9																	125282234		2203	4300	6503	SO:0001583	missense	0			X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"GPCR / Class A : Olfactory receptors"	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.815T>C	9.37:g.125282234T>C	ENSP00000343521:p.Val272Ala		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V272A	ENST00000340750.1	37	c.815	CCDS35122.1	9	.	.	.	.	.	.	.	.	.	.	T	9.276	1.046898	0.19748	.	.	ENSG00000239590	ENST00000340750	T	0.00084	8.75	5.36	0.425	0.16473	GPCR, rhodopsin-like superfamily (1);	0.850599	0.09332	U	0.816794	T	0.00073	0.0002	N	0.05383	-0.06	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.18272	-1.0342	10	0.02654	T	1	.	3.9839	0.09507	0.2422:0.3582:0.0:0.3997	.	272	Q8NGS1	OR1J4_HUMAN	A	272	ENSP00000343521:V272A	ENSP00000343521:V272A	V	+	2	0	OR1J4	124322055	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.210000	0.17455	-0.065000	0.13021	0.529000	0.55759	GTA	OR1J4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000239590		0.488	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J4	HGNC	protein_coding	OTTHUMT00000053936.1	-	0	72	0	T			125282234	1	tier1	-	no_errors	ENST00000340750	ensembl	human	known	74_37	missense	37.97	49	30	SNP	0.000	C	C	125282234	T	C	125282234	3	2	138	1	0	0	0	0	1	0	0	0	11000	1638	57	4	817	4	OR1J4	9	125282234	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	52441564	125282234	15931197	138	35300											
SLC27A4	10999	genome.wustl.edu	37	chr9	131107437	131107437	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ctcttgttcacacacagtggCggcctggtcctcctgaaggt	6	11	11	13	1	2	1	1	1	1	0	4	1	4	1	3	4	0	1	3	4	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr9:131107437C>T	ENST00000300456.4	+	3	282	c.165C>T	c.(163-165)ggC>ggT	p.G55G	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	55					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CACACAGTGGCGGCCTGGTCC	0.637																																					Pancreas(107;1554 2241 10946 12953)												0													44	31	36					9																	131107437		2183	4258	6441	SO:0001819	synonymous_variant	0			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.165C>T	9.37:g.131107437C>T			A8K2F7|O95186|Q96G53	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.G55	ENST00000300456.4	37	c.165	CCDS6899.1	9																																																																																			SLC27A4	-	NULL	ENSG00000167114		0.637	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A4	HGNC	protein_coding	OTTHUMT00000054432.2	-	0	70	0	C			131107437	1	tier1	-	no_errors	ENST00000300456	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.176	T	T	131107437	C	T	131107437	2	4	138	1	0	0	0	0	0	0	0	1	14573	755	27	1		1	SLC27A4	9	131107437	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	5825203	131107437	10105994	139	35301											
BARHL1	56751	genome.wustl.edu	37	chr9	135462883	135462883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaccgcatggagctcGccgcctcgctcaacctcacc	7	6	10	18	4	2	0	2	0	0	0	4	2	2	2	5	2	3	4	5	2	1	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr9:135462883G>A	ENST00000263610.2	+	2	1247	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	BARHL1_ENST00000542090.1_Missense_Mutation_p.A212T	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	212					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CATGGAGCTCGCCGCCTCGCT	0.657																																																	0													29	24	25					9																	135462883		2202	4300	6502	SO:0001583	missense	0			AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"Homeoboxes / ANTP class : NKL subclass"	953	protein-coding gene	gene with protein product		605211	"BarH (Drosophila)-like 1"				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.634G>A	9.37:g.135462883G>A	ENSP00000263610:p.Ala212Thr		Q5T6V2|Q9NY88	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.A212T	ENST00000263610.2	37	c.634	CCDS6950.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.157790	0.94686	.	.	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.98164	-4.76;-4.76	4.9	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99221	0.9729	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99038	1.0823	10	0.87932	D	0	.	15.5939	0.76562	0.0:0.0:1.0:0.0	.	212	Q9BZE3	BARH1_HUMAN	T	212	ENSP00000263610:A212T;ENSP00000444704:A212T	ENSP00000263610:A212T	A	+	1	0	BARHL1	134452704	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	9.860000	0.99555	2.269000	0.75478	0.555000	0.69702	GCC	BARHL1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000125492		0.657	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL1	HGNC	protein_coding	OTTHUMT00000054789.2	-	0	52	0	G			135462883	1	tier1	-	no_errors	ENST00000263610	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	A	A	135462883	G	A	135462883	3	1	138	1	0	0	0	0	1	0	0	0	1314	1087	38	1	640	1	BARHL1	9	135462883	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	4355446	135462883	5750548	140	35302											
KIAA0649	9858	genome.wustl.edu	37	chr9	138379416	138379416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagggacgctggagcccaGgccgaccgcacaccgccctg	8	2	15	16	4	0	1	0	0	0	1	0	5	0	3	5	3	1	2	5	3	0	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr9:138379416G>T	ENST00000356818.2	+	4	3609	c.3060G>T	c.(3058-3060)caG>caT	p.Q1020H	PPP1R26_ENST00000605286.1_Missense_Mutation_p.Q1020H|PPP1R26_ENST00000401470.3_Missense_Mutation_p.Q1020H|PPP1R26_ENST00000604351.1_Missense_Mutation_p.Q1020H|PPP1R26_ENST00000605660.1_Missense_Mutation_p.Q1020H|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1020					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CTGGAGCCCAGGCCGACCGCA	0.716																																																	0													5	5	5					9																	138379416		1995	3957	5952	SO:0001583	missense	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3060G>T	9.37:g.138379416G>T	ENSP00000349274:p.Gln1020His		Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	NULL	p.Q1020H	ENST00000356818.2	37	c.3060	CCDS6988.1	9	.	.	.	.	.	.	.	.	.	.	G	9.065	0.995538	0.19043	.	.	ENSG00000196422	ENST00000356818	T	0.10288	2.89	4.03	0.954	0.19595	.	0.924765	0.09140	N	0.843179	T	0.07098	0.0180	N	0.19112	0.55	0.09310	N	1	B	0.24882	0.113	B	0.27887	0.084	T	0.42085	-0.9472	10	0.42905	T	0.14	-11.956	4.745	0.13033	0.2128:0.1786:0.6086:0.0	.	1020	Q5T8A7	PPR26_HUMAN	H	1020	ENSP00000349274:Q1020H	ENSP00000349274:Q1020H	Q	+	3	2	KIAA0649	137519237	0.001000	0.12720	0.042000	0.18584	0.067000	0.16453	0.081000	0.14823	0.075000	0.16796	0.455000	0.32223	CAG	PPP1R26	-	NULL	ENSG00000196422		0.716	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1		0	33	0	G	NM_014811		138379416	1			no_errors	ENST00000356818	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.236	T	T	138379416	G	T	138379416	3	4	138	1	0	0	0	0	1	0	0	0	8214	991	35	3	3062	3	KIAA0649	9	138379416	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	2916533	138379416	2834015	141	35303											
TMEM141	85014	genome.wustl.edu	37	chr9	139686714	139686714	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gctccacagttgcaggctctGtggtcagctacggggtgacg	6	9	15	11	2	2	1	1	1	1	0	3	1	3	1	1	4	3	5	1	4	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr9:139686714G>A	ENST00000290079.8	+	4	233	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	TMEM141_ENST00000465017.1_3'UTR|RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.V48M	NM_032928.3	NP_116317.1	Q96I45	TM141_HUMAN	transmembrane protein 141	73						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112)		TGCAGGCTCTGTGGTCAGCTA	0.592											OREG0019622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35	35	35					9																	139686714		2194	4294	6488	SO:0001583	missense	0			BC007834	CCDS7007.1	9q34.3	2009-11-13			ENSG00000244187	ENSG00000244187			28211	protein-coding gene	gene with protein product							Standard	NM_032928		Approved	MGC14141	uc004cje.4	Q96I45	OTTHUMG00000020945	ENST00000290079.8:c.217G>A	9.37:g.139686714G>A	ENSP00000290079:p.Val73Met	1650	A6NIZ7|Q5T5R5	Missense_Mutation	SNP	NULL	p.V73M	ENST00000290079.8	37	c.217	CCDS7007.1	9	.	.	.	.	.	.	.	.	.	.	G	6.232	0.410873	0.11812	.	.	ENSG00000244187	ENST00000290079	.	.	.	4.69	0.485	0.16830	.	.	.	.	.	T	0.29158	0.0725	L	0.43152	1.355	0.28799	N	0.898892	B	0.18741	0.03	B	0.20767	0.031	T	0.27971	-1.0058	8	0.41790	T	0.15	.	1.9746	0.03413	0.1855:0.154:0.5024:0.1581	.	73	Q96I45	TM141_HUMAN	M	73	.	ENSP00000290079:V73M	V	+	1	0	TMEM141	138806535	0.347000	0.24853	0.865000	0.33974	0.008000	0.06430	0.327000	0.19663	0.050000	0.15949	-0.823000	0.03104	GTG	TMEM141	-	NULL	ENSG00000244187		0.592	TMEM141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM141	HGNC	protein_coding	OTTHUMT00000055119.1		0	35	0	G	NM_032928		139686714	1			no_errors	ENST00000290079	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.596	A	A	139686714	G	A	139686714	3	1	138	1	0	0	0	0	1	0	0	0	16103	1377	48	3	231	3	TMEM141	9	139686714	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	1307298	139686714	1526717	142	35304											
DHTKD1	55526	genome.wustl.edu	37	chr10	12131151	12131151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacctggaggccgtcaaccCcgtggccgtgggcaaaactc	8	5	13	15	3	1	0	1	0	0	0	2	1	1	1	5	4	2	2	5	4	3	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr10:12131151C>T	ENST00000263035.4	+	5	946	c.884C>T	c.(883-885)cCc>cTc	p.P295L	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	295					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)			GCCGTCAACCCCGTGGCCGTG	0.612																																																	0													91	80	84					10																	12131151		2203	4300	6503	SO:0001583	missense	0			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.884C>T	10.37:g.12131151C>T	ENSP00000263035:p.Pro295Leu		Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.P295L	ENST00000263035.4	37	c.884	CCDS7087.1	10	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118218	0.56505	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	D;D	0.96940	-4.18;-4.18	5.43	4.52	0.55395	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99184	1.0868	10	0.87932	D	0	-9.4168	13.954	0.64135	0.0:0.9269:0.0:0.0731	.	295	Q96HY7	DHTK1_HUMAN	L	295;230	ENSP00000263035:P295L;ENSP00000388163:P230L	ENSP00000263035:P295L	P	+	2	0	DHTKD1	12171157	1.000000	0.71417	0.274000	0.24659	0.049000	0.14656	7.656000	0.83736	1.290000	0.44636	0.563000	0.77884	CCC	DHTKD1	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000181192		0.612	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	-	0	39	0	C	NM_018706		12131151	1	tier1	-	no_errors	ENST00000263035	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.999	T	T	12131151	C	T	12131151	3	4	138	1	0	0	0	0	1	0	0	0	4514	623	22	3	902	3	DHTKD1	10	12131151	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09		12131151	123403596	143	35305											
FRMD4A	55691	genome.wustl.edu	37	chr10	13699153	13699153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccccccgcgccccccgcGccccccgcacccccgcgcgc	1	0	9	31	9	0	0	0	0	0	0	0	0	0	0	12	0	0	1	12	0	0	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr10:13699153G>A	ENST00000357447.2	-	22	2804	c.2436C>T	c.(2434-2436)ggC>ggT	p.G812G	FRMD4A_ENST00000378503.1_Silent_p.G812G|FRMD4A_ENST00000358621.4_Silent_p.G797G	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	812					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						cgccccccgcgccccccgcac	0.761																																																	0													2	2	2					10																	13699153		1468	2791	4259	SO:0001819	synonymous_variant	0			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.2436C>T	10.37:g.13699153G>A			A7E2Y3|Q5T377	Silent	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.G812	ENST00000357447.2	37	c.2436	CCDS7101.1	10																																																																																			FRMD4A	-	NULL	ENSG00000151474		0.761	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	-	0	24	0	G	NM_018027		13699153	-1	tier1	-	no_errors	ENST00000357447	ensembl	human	known	74_37	silent	23.53	12	4	SNP	0.078	A	A	13699153	G	A	13699153	2	1	138	1	0	0	0	0	0	0	0	1	6075	1074	38	1		1	FRMD4A	10	13699153	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	1568002	13699153	121835594	144	35306											
PCDH15	65217	genome.wustl.edu	37	chr10	55943308	55943308	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgcatccatcacttgaatatTgacgatgactggctcacttt	10	14	7	10	1	2	3	2	3	0	0	3	4	3	3	1	1	1	2	1	1	2	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr10:55943308T>C	ENST00000320301.6	-	13	1880	c.1486A>G	c.(1486-1488)Aat>Gat	p.N496D	PCDH15_ENST00000395430.1_Missense_Mutation_p.N496D|PCDH15_ENST00000395445.1_Missense_Mutation_p.N503D|PCDH15_ENST00000395446.1_Missense_Mutation_p.N496D|PCDH15_ENST00000414778.1_Missense_Mutation_p.N501D|PCDH15_ENST00000395438.1_Missense_Mutation_p.N496D|PCDH15_ENST00000373957.3_Missense_Mutation_p.N474D|PCDH15_ENST00000373965.2_Missense_Mutation_p.N503D|PCDH15_ENST00000395433.1_Missense_Mutation_p.N474D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.N496D|PCDH15_ENST00000373955.1_Missense_Mutation_p.N496D|PCDH15_ENST00000361849.3_Missense_Mutation_p.N496D|PCDH15_ENST00000395432.2_Missense_Mutation_p.N459D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.N107D	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	496	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTTGAATATTGACGATGACT	0.388										HNSCC(58;0.16)																																							0													279	241	254					10																	55943308		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1486A>G	10.37:g.55943308T>C	ENSP00000322604:p.Asn496Asp		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N496D	ENST00000320301.6	37	c.1486	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371436	0.42003	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61274	0.12;0.62;0.62;0.17;0.12;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.07	5.07	0.68467	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68586	0.3017	L	0.45581	1.43	0.30149	N	0.80326	D;B;B;B;P;B;D;B;B;B;B;B;B;B;B	0.63880	0.993;0.049;0.213;0.049;0.759;0.049;0.986;0.009;0.026;0.026;0.025;0.025;0.016;0.009;0.025	D;B;B;B;P;B;D;B;B;B;B;B;B;B;B	0.69307	0.963;0.05;0.143;0.039;0.449;0.09;0.932;0.02;0.013;0.013;0.02;0.029;0.017;0.02;0.034	T	0.66196	-0.5984	9	0.40728	T	0.16	.	14.1671	0.65486	0.0:0.0:0.0:1.0	.	474;496;496;501;496;459;496;496;503;503;496;501;496;474;496	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	503;501;496;496;107;503;496;459;496;474;474;496;496;501;496;496	ENSP00000363076:N503D;ENSP00000410304:N501D;ENSP00000378826:N496D;ENSP00000386693:N107D;ENSP00000378832:N503D;ENSP00000378833:N496D;ENSP00000378820:N459D;ENSP00000354950:N496D;ENSP00000378821:N474D;ENSP00000363068:N474D;ENSP00000322604:N496D;ENSP00000378818:N496D;ENSP00000412628:N496D;ENSP00000363066:N496D	ENSP00000322604:N496D	N	-	1	0	PCDH15	55613314	1.000000	0.71417	0.999000	0.59377	0.171000	0.22731	4.777000	0.62361	2.052000	0.61016	0.524000	0.50904	AAT	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150275		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	83	0	T	NM_033056		55943308	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	6.67	112	8	SNP	1.000	C	C	55943308	T	C	55943308	3	2	138	1	0	0	0	0	1	0	0	0	11550	1812	63	4	6084	4	PCDH15	10	55943308	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	42244155	55943308	79591439	145	35307											
STOX1	219736	genome.wustl.edu	37	chr10	70644118	70644118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatacttcatagttactcCtcagacttacttcattacaa	13	14	4	10	0	3	1	3	0	0	1	4	2	4	2	1	1	4	1	1	1	6	7			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr10:70644118C>T	ENST00000298596.6	+	3	649	c.566C>T	c.(565-567)cCt>cTt	p.P189L	STOX1_ENST00000421961.2_Missense_Mutation_p.P79L|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.P189L|STOX1_ENST00000399165.4_Missense_Mutation_p.P189L	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	189						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						ATAGTTACTCCTCAGACTTAC	0.403																																																	0													98	93	95					10																	70644118		1892	4117	6009	SO:0001583	missense	0			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.566C>T	10.37:g.70644118C>T	ENSP00000298596:p.Pro189Leu		A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.P189L	ENST00000298596.6	37	c.566	CCDS41535.1	10	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612457	0.87258	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000421961	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	5.58	5.58	0.84498	Storkhead-box protein, winged-helix domain (1);	0.000000	0.85682	U	0.000000	D	0.90830	0.7120	M	0.82630	2.6	0.80722	D	1	D;D	0.76494	0.999;0.973	D;P	0.79108	0.992;0.859	D	0.91654	0.5337	10	0.87932	D	0	.	19.5709	0.95419	0.0:1.0:0.0:0.0	.	189;189	Q6ZVD7;Q6ZVD7-2	STOX1_HUMAN;.	L	189;189;189;79	ENSP00000382121:P189L;ENSP00000298596:P189L;ENSP00000382118:P189L;ENSP00000394509:P79L	ENSP00000298596:P189L	P	+	2	0	STOX1	70314124	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.743000	0.85020	2.620000	0.88729	0.491000	0.48974	CCT	STOX1	-	pfam_Storkhead-box_winged-helix	ENSG00000165730		0.403	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX1	HGNC	protein_coding	OTTHUMT00000276849.3	-	0	20	0	C	NM_152709		70644118	1	tier1	-	no_errors	ENST00000298596	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	T	T	70644118	C	T	70644118	3	4	138	1	0	0	0	0	1	0	0	0	15366	681	24	3	576	3	STOX1	10	70644118	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	14700810	70644118	64890629	146	35308											
CCNJ	54619	genome.wustl.edu	37	chr10	97816949	97816949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcctacaagactacatCgtcttactgcctactcttgg	8	12	8	13	2	2	1	0	0	2	1	3	1	2	1	2	2	5	0	2	2	5	5	rs201944303	byFrequency	TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr10:97816949C>A	ENST00000265992.5	+	5	1019	c.652C>A	c.(652-654)Cgt>Agt	p.R218S	ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R229S|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.R218S|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R217S|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	218						nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AAGACTACATCGTCTTACTGC	0.398													C|||	2	0.000399361	0	0	5008	,	,		23843	0		0	False		,,,				2504	0.002																0													219	186	197					10																	97816949		2203	4300	6503	SO:0001583	missense	0			AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.652C>A	10.37:g.97816949C>A	ENSP00000265992:p.Arg218Ser		B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R229S	ENST00000265992.5	37	c.685	CCDS7445.1	10	.	.	.	.	.	.	.	.	.	.	C	19.29	3.800131	0.70567	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.22134	1.97;1.97;1.97	5.42	5.42	0.78866	Cyclin, C-terminal (1);Cyclin-like (2);	0.139775	0.64402	D	0.000003	T	0.26268	0.0641	L	0.48642	1.525	0.58432	D	0.999999	P;P;P	0.40302	0.712;0.491;0.546	B;B;B	0.42851	0.363;0.278;0.4	T	0.00832	-1.1548	10	0.31617	T	0.26	-19.3231	18.3571	0.90361	0.0:1.0:0.0:0.0	.	229;217;218	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	S	218;229;217;218	ENSP00000265992:R218S;ENSP00000384498:R217S;ENSP00000441415:R218S	ENSP00000265992:R218S	R	+	1	0	CCNJ	97806939	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.814000	0.86154	2.694000	0.91930	0.655000	0.94253	CGT	CCNJ	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000107443		0.398	CCNJ-003	KNOWN	basic|CCDS	protein_coding	CCNJ	HGNC	protein_coding	OTTHUMT00000090166.3	-	0	143	0	C	NM_019084		97816949	1	tier1	-	no_errors	ENST00000465148	ensembl	human	known	74_37	missense	9.09	100	10	SNP	1.000	A	A	97816949	C	A	97816949	3	1	138	1	0	0	0	0	1	0	0	0	2935	884	31	2	699	2	CCNJ	10	97816949	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	27172831	97816949	37717798	147	35309											
CASP7	840	genome.wustl.edu	37	chr10	115481450	115481450	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacaaagatgccgaggcGctcttcaagtgcttccgaag	12	7	11	11	3	2	2	1	0	1	2	3	4	3	2	2	1	2	2	2	1	3	2	rs114786731	byFrequency	TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr10:115481450G>T	ENST00000345633.4	+	5	672	c.288G>T	c.(286-288)gcG>gcT	p.A96A	RP11-211N11.5_ENST00000448834.1_RNA|CASP7_ENST00000369321.2_Silent_p.A129A|CASP7_ENST00000369331.4_Silent_p.A96A|CASP7_ENST00000369315.1_Silent_p.A96A|CASP7_ENST00000369318.3_Silent_p.A96A|CASP7_ENST00000452490.2_Silent_p.A71A	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	96					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|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 (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		ATGCCGAGGCGCTCTTCAAGT	0.498																																																	0													221	188	199					10																	115481450		2203	4300	6503	SO:0001819	synonymous_variant	0			U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"Caspases"	1508	protein-coding gene	gene with protein product		601761	"caspase 7, apoptosis-related cysteine protease"			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.288G>T	10.37:g.115481450G>T			B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Silent	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.A129	ENST00000345633.4	37	c.387	CCDS7581.1	10																																																																																			CASP7	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	ENSG00000165806		0.498	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP7	HGNC	protein_coding	OTTHUMT00000050439.1	-	0	77	0	G	NM_033338		115481450	1	tier1	-	no_errors	ENST00000369321	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.828	T	T	115481450	G	T	115481450	2	4	138	1	0	0	0	0	0	0	0	1	2683	1074	38	2		2	CASP7	10	115481450	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	17664501	115481450	20053297	148	35310											
FOXI2	399823	genome.wustl.edu	37	chr10	129535908	129535908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgcgccgctgcggaagctgaCgctcagccagatctaccagt	8	6	12	15	5	2	2	1	1	1	1	2	3	2	3	3	1	4	3	3	1	2	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr10:129535908C>T	ENST00000388920.4	+	1	410	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	124					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CGGAAGCTGACGCTCAGCCAG	0.642																																					Esophageal Squamous(54;1038 1280 2528 31583)												0													24	31	29					10																	129535908		692	1591	2283	SO:0001583	missense	0			AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"Forkhead boxes"	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.371C>T	10.37:g.129535908C>T	ENSP00000373572:p.Thr124Met			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T124M	ENST00000388920.4	37	c.371	CCDS7655.2	10	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697145	0.68386	.	.	ENSG00000186766	ENST00000388920	D	0.96300	-3.97	4.52	3.58	0.41010	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	U	0.000000	D	0.98632	0.9542	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98826	1.0749	10	0.87932	D	0	.	12.2901	0.54812	0.1711:0.8289:0.0:0.0	.	124	Q6ZQN5	FOXI2_HUMAN	M	124	ENSP00000373572:T124M	ENSP00000373572:T124M	T	+	2	0	FOXI2	129425898	1.000000	0.71417	0.992000	0.48379	0.498000	0.33706	7.385000	0.79763	0.836000	0.34901	0.462000	0.41574	ACG	FOXI2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000186766		0.642	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXI2	HGNC	protein_coding	OTTHUMT00000050984.2	-	0	40	0	C	NM_207426		129535908	1	tier1	-	no_errors	ENST00000388920	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	129535908	C	T	129535908	3	4	138	1	0	0	0	0	1	0	0	0	6034	536	19	1	373	1	FOXI2	10	129535908	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	14054458	129535908	5998839	149	35311											
FAM160A2	84067	genome.wustl.edu	37	chr11	6239171	6239171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatactccaggtaattgtCttccagctctccaggctcct	8	12	7	14	0	2	1	0	0	2	1	6	1	5	1	4	2	2	3	4	2	2	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:6239171C>T	ENST00000449352.2	-	9	1908	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N	FAM160A2_ENST00000265978.4_Missense_Mutation_p.D563N|FAM160A2_ENST00000524416.1_Missense_Mutation_p.D549N|FAM160A2_ENST00000529360.1_5'Flank			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	549					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						AGGTAATTGTCTTCCAGCTCT	0.662																																																	0													63	60	61					11																	6239171		2201	4296	6497	SO:0001583	missense	0				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.1645G>A	11.37:g.6239171C>T	ENSP00000416918:p.Asp549Asn		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.D563N	ENST00000449352.2	37	c.1687	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	9.283	1.048652	0.19827	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.14516	3.11;3.12;2.5	4.97	4.97	0.65823	.	0.392001	0.29730	N	0.011360	T	0.11495	0.0280	L	0.36672	1.1	0.24841	N	0.992468	P;B;P	0.42649	0.786;0.364;0.628	B;B;B	0.40009	0.316;0.077;0.236	T	0.20273	-1.0280	10	0.25106	T	0.35	-23.8525	11.3342	0.49494	0.0:0.9124:0.0:0.0876	.	549;549;563	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	N	549;474;563;549	ENSP00000416918:D549N;ENSP00000265978:D563N;ENSP00000431773:D549N	ENSP00000265978:D563N	D	-	1	0	FAM160A2	6195747	0.953000	0.32496	1.000000	0.80357	0.998000	0.95712	0.329000	0.19698	2.590000	0.87494	0.561000	0.74099	GAC	FAM160A2	-	NULL	ENSG00000051009		0.662	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	-	0	78	0	C	NM_032127		6239171	-1	tier1	-	no_errors	ENST00000265978	ensembl	human	known	74_37	missense	15.38	77	14	SNP	1.000	T	T	6239171	C	T	6239171	3	4	138	1	0	0	0	0	1	0	0	0	5488	913	32	3	1289	3	FAM160A2	11	6239171	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09		6239171	128767345	150	35312											
TRIM3	10612	genome.wustl.edu	37	chr11	6478032	6478032	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgcccagattgagcacCgatcgccgcagaccgtccac	9	5	11	16	5	0	3	0	1	0	2	2	4	1	3	5	0	2	2	5	0	0	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:6478032C>T	ENST00000525074.1	-	6	1318	c.924G>A	c.(922-924)tcG>tcA	p.S308S	TRIM3_ENST00000536344.1_Silent_p.S189S|TRIM3_ENST00000345851.3_Silent_p.S308S|TRIM3_ENST00000537602.1_Silent_p.S230S|TRIM3_ENST00000359518.3_Silent_p.S308S|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	308					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)		GATTGAGCACCGATCGCCGCA	0.672																																					Melanoma(6;5 510 1540 25169 29084)												0													66	61	63					11																	6478032		2189	4275	6464	SO:0001819	synonymous_variant	0			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.924G>A	11.37:g.6478032C>T			B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.S308	ENST00000525074.1	37	c.924	CCDS7764.1	11																																																																																			TRIM3	-	NULL	ENSG00000110171		0.672	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM3	HGNC	protein_coding	OTTHUMT00000384224.2	-	0	73	0	C	NM_006458		6478032	-1	tier1	-	no_errors	ENST00000345851	ensembl	human	known	74_37	silent	17.11	62	13	SNP	0.841	T	T	6478032	C	T	6478032	2	4	138	1	0	0	0	0	0	0	0	1	16552	639	23	1		1	TRIM3	11	6478032	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	238861	6478032	128528484	151	35313											
PPFIBP2	8495	genome.wustl.edu	37	chr11	7670439	7670439	+	Silent	SNP	C	C	T	0	0	0	1	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	tttcatgaatctagagttgaCagacgaatgctgcaatacct	13	12	8	8	1	2	4	1	2	1	2	2	5	2	4	1	0	3	3	1	0	5	4	rs201176923		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:7670439C>T	ENST00000299492.4	+	20	2359	c.1971C>T	c.(1969-1971)gaC>gaT	p.D657D	PPFIBP2_ENST00000533792.1_Silent_p.D499D|PPFIBP2_ENST00000528883.1_Silent_p.D545D|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Silent_p.D514D	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	657	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTAGAGTTGACAGACGAATGC	0.423													C|||	1	0.000199681	0	0	5008	,	,		19699	0		0	False		,,,				2504	0.001																0													117	108	111					11																	7670439		2201	4296	6497	SO:0001819	synonymous_variant	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1971C>T	11.37:g.7670439C>T			B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D657	ENST00000299492.4	37	c.1971	CCDS31419.1	11																																																																																			PPFIBP2	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000166387		0.423	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2		0	78	0	C	NM_003621		7670439	1			no_errors	ENST00000299492	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.999	T	T	7670439	C	T	7670439	2	4	138	1	0	0	0	0	0	0	0	1	12353	477	17	3		3	PPFIBP2	11	7670439	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1192407	7670439	127336077	152	35314											
MICALCL	84953	genome.wustl.edu	37	chr11	12376403	12376403	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagagaaaatgctcaaggaGggtgagtatgcttgggcctt	12	9	15	5	0	1	3	1	1	0	2	1	5	1	4	1	3	2	3	1	3	4	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:12376403G>T	ENST00000256186.2	+	8	2193	c.1902G>T	c.(1900-1902)gaG>gaT	p.E634D		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	634					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)		TGCTCAAGGAGGGTGAGTATG	0.502																																																	0													70	71	70					11																	12376403		1903	4132	6035	SO:0001630	splice_region_variant	0			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.1903+1G>T	11.37:g.12376403G>T			Q7RTP7|Q96JU6	Missense_Mutation	SNP	pfam_DUF3585,smart_ProQ/FinO	p.E634D	ENST00000256186.2	37	c.1902	CCDS41620.1	11	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768270	0.31320	.	.	ENSG00000133808	ENST00000256186	T	0.47177	0.85	5.81	-4.9	0.03094	Domain of unknown function DUF3585 (1);	0.291028	0.18007	N	0.154711	T	0.15305	0.0369	N	0.05487	-0.04	0.26109	N	0.980703	B	0.17852	0.024	B	0.26969	0.075	T	0.30090	-0.9990	10	0.06236	T	0.91	.	0.8754	0.01223	0.2125:0.2585:0.1397:0.3893	.	634	Q6ZW33	MICLK_HUMAN	D	634	ENSP00000256186:E634D	ENSP00000256186:E634D	E	+	3	2	MICALCL	12332979	0.879000	0.30193	0.982000	0.44146	0.878000	0.50629	-0.229000	0.09098	-0.452000	0.07087	-0.175000	0.13238	GAG	MICALCL	-	pfam_DUF3585	ENSG00000133808		0.502	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	-	0	69	0	G	NM_032867	Missense_Mutation	12376403	1	tier1	-	no_errors	ENST00000256186	ensembl	human	known	74_37	missense	20.43	74	19	SNP	0.789	T	T	12376403	G	T	12376403	5	4	138	1	0	0	0	0	0	0	1	0	9610	1014	35	3	1928	3	MICALCL	11	12376403	Splice_Site	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	4705964	12376403	122630113	153	35315											
SLC17A6	57084	genome.wustl.edu	37	chr11	22398160	22398160	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgggcatttcgaatggtgTtggcacattgtcaggaatgg	10	12	14	5	1	1	0	1	0	0	0	2	2	1	1	0	5	0	3	0	5	3	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:22398160T>G	ENST00000263160.3	+	11	1792	c.1355T>G	c.(1354-1356)gTt>gGt	p.V452G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	452					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCGAATGGTGTTGGCACATTG	0.383																																																	0													227	197	207					11																	22398160		2203	4300	6503	SO:0001583	missense	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1355T>G	11.37:g.22398160T>G	ENSP00000263160:p.Val452Gly		A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V452G	ENST00000263160.3	37	c.1355	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918391	0.92249	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58060	0.36	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74038	0.3664	M	0.79926	2.475	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.77991	-0.2379	10	0.87932	D	0	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	452	Q9P2U8	VGLU2_HUMAN	G	452;340	ENSP00000263160:V452G	ENSP00000263160:V452G	V	+	2	0	SLC17A6	22354736	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	6.290000	0.72712	2.254000	0.74563	0.533000	0.62120	GTT	SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000091664		0.383	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0	92	0	T	NM_020346		22398160	1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	13.86	87	14	SNP	1.000	G	G	22398160	T	G	22398160	3	3	138	1	0	0	0	0	1	0	0	0	14466	1725	60	4	1397	4	SLC17A6	11	22398160	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	10021757	22398160	112608356	154	35316											
CAPRIN1	4076	genome.wustl.edu	37	chr11	34098007	34098007	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagctagtagaccctgaacgGgacatgagcttgaggtatta	13	9	12	7	1	0	4	0	3	0	1	0	5	0	5	1	2	3	4	1	2	6	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:34098007G>A	ENST00000341394.4	+	5	780	c.591G>A	c.(589-591)cgG>cgA	p.R197R	CAPRIN1_ENST00000389645.3_Silent_p.R197R|CAPRIN1_ENST00000532820.1_Silent_p.R197R|CAPRIN1_ENST00000530820.1_Silent_p.R197R|CAPRIN1_ENST00000529307.1_Silent_p.R116R	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	197					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)				ACCCTGAACGGGACATGAGCT	0.368																																																	0													91	97	95					11																	34098007		2202	4298	6500	SO:0001819	synonymous_variant	0			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.591G>A	11.37:g.34098007G>A			A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Silent	SNP	pfam_Caprin-1_C	p.R197	ENST00000341394.4	37	c.591	CCDS31453.1	11																																																																																			CAPRIN1	-	NULL	ENSG00000135387		0.368	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	-	0	46	0	G	NM_005898		34098007	1	tier1	-	no_errors	ENST00000341394	ensembl	human	known	74_37	silent	12.50	49	7	SNP	0.946	A	A	34098007	G	A	34098007	2	1	138	1	0	0	0	0	0	0	0	1	2642	1219	43	3		3	CAPRIN1	11	34098007	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	11699847	34098007	100908509	155	35317											
PTPRJ	5795	genome.wustl.edu	37	chr11	48161120	48161120	+	Silent	SNP	C	C	T	0	0	0	1	1	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	aaatggacctgccctcctggCgccaatgcaggctttgagct	8	9	11	13	1	0	1	0	1	0	0	1	2	1	2	4	3	3	3	4	3	2	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:48161120C>T	ENST00000418331.2	+	11	2587	c.2235C>T	c.(2233-2235)ggC>ggT	p.G745G		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	745	Fibronectin type-III 8. {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						GCCCTCCTGGCGCCAATGCAG	0.582																																																	0													61	61	61					11																	48161120		2201	4298	6499	SO:0001819	synonymous_variant	0			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.2235C>T	11.37:g.48161120C>T			Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G745	ENST00000418331.2	37	c.2235	CCDS7945.1	11																																																																																			PTPRJ	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000149177		0.582	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	-	0	52	0	C			48161120	1	tier1	-	no_errors	ENST00000418331	ensembl	human	known	74_37	silent	16.00	42	8	SNP	0.001	T	T	48161120	C	T	48161120	2	4	138	1	0	0	0	0	0	0	0	1	12849	755	27	1		1	PTPRJ	11	48161120	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	14063113	48161120	86845396	156	35318											
OR4A5	81318	genome.wustl.edu	37	chr11	51411456	51411456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacctccttacctacatgaGgacggacactcctcctataa	12	10	5	14	1	0	1	0	1	0	0	3	3	3	3	5	2	3	0	5	2	5	5	rs555282850		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:51411456G>C	ENST00000319760.6	-	1	992	c.940C>G	c.(940-942)Ctc>Gtc	p.L314V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	314						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)				ACCTACATGAGGACGGACACT	0.373																																																	0													17	17	17					11																	51411456		2165	4287	6452	SO:0001583	missense	0			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.940C>G	11.37:g.51411456G>C	ENSP00000367664:p.Leu314Val		Q6IF84	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L314V	ENST00000319760.6	37	c.940	CCDS31497.1	11	.	.	.	.	.	.	.	.	.	.	.	1.280	-0.610601	0.03690	.	.	ENSG00000221840	ENST00000319760	T	0.00363	7.82	0.681	-1.36	0.09085	.	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.26876	0.162	B	0.12156	0.007	T	0.29397	-1.0013	8	0.72032	D	0.01	.	.	.	.	.	314	Q8NH83	OR4A5_HUMAN	V	314	ENSP00000367664:L314V	ENSP00000367664:L314V	L	-	1	0	OR4A5	51268032	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.336000	0.19823	-0.441000	0.07201	-0.552000	0.04208	CTC	OR4A5	-	NULL	ENSG00000221840		0.373	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1		0	68	0	G	NM_001005272		51411456	-1			no_errors	ENST00000319760	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	C	C	51411456	G	C	51411456	3	2	138	1	0	0	0	0	1	0	0	0	11082	1000	35	5	11	5	OR4A5	11	51411456	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	3250336	51411456	83595060	157	35319											
OR4A5	81318	genome.wustl.edu	37	chr11	51411866	51411866	+	Missense_Mutation	SNP	T	T	C	0	1	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	gttccagtaatgggtgcatgTcacaactgaaatgaacaatg	14	10	10	7	0	1	2	1	2	0	0	2	2	2	2	1	1	3	3	1	1	5	2	rs567373135		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:51411866T>C	ENST00000319760.6	-	1	582	c.530A>G	c.(529-531)gAc>gGc	p.D177G		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	177						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)				TGGGTGCATGTCACAACTGAA	0.433													.|||	1	0.000199681	0	0	5008	,	,		21250	0		0.001	False		,,,				2504	0																0													69	58	62					11																	51411866		2201	4295	6496	SO:0001583	missense	0			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.530A>G	11.37:g.51411866T>C	ENSP00000367664:p.Asp177Gly		Q6IF84	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D177G	ENST00000319760.6	37	c.530	CCDS31497.1	11	.	.	.	.	.	.	.	.	.	.	.	11.54	1.670147	0.29693	.	.	ENSG00000221840	ENST00000319760	T	0.00198	8.57	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000123	T	0.00936	0.0031	H	0.99368	4.535	0.30557	N	0.764853	D	0.67145	0.996	D	0.74023	0.982	T	0.06058	-1.0848	10	0.87932	D	0	.	7.8263	0.29318	0.0:0.0:0.0:1.0	.	177	Q8NH83	OR4A5_HUMAN	G	177	ENSP00000367664:D177G	ENSP00000367664:D177G	D	-	2	0	OR4A5	51268442	1.000000	0.71417	0.926000	0.36857	0.015000	0.08874	6.123000	0.71614	1.143000	0.42306	0.136000	0.15936	GAC	OR4A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000221840		0.433	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1	-	0	106	0	T	NM_001005272		51411866	-1	tier1	-	no_errors	ENST00000319760	ensembl	human	known	74_37	missense	6.67	126	9	SNP	0.998	C	C	51411866	T	C	51411866	3	2	138	1	0	0	0	0	1	0	0	0	11082	1667	58	4	421	4	OR4A5	11	51411866	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	410	51411866	83594650	158	35320											
OR5I1	10798	genome.wustl.edu	37	chr11	55703182	55703182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcttcctcccactgaaaGagcggatctttaagactgag	10	12	8	11	1	3	4	0	2	3	2	5	5	5	5	2	1	1	0	2	1	2	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:55703182G>A	ENST00000301532.3	-	1	694	c.695C>T	c.(694-696)tCt>tTt	p.S232F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	232					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCACTGAAAGAGCGGATCTT	0.458																																																	0													53	54	53					11																	55703182		2201	4296	6497	SO:0001583	missense	0			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.695C>T	11.37:g.55703182G>A	ENSP00000301532:p.Ser232Phe		Q6IEU4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S232F	ENST00000301532.3	37	c.695	CCDS7949.1	11	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399805	0.25291	.	.	ENSG00000167825	ENST00000301532	T	0.00340	8.04	5.16	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000272	T	0.00906	0.0030	M	0.93594	3.435	0.09310	N	1	D	0.58620	0.983	P	0.57057	0.812	T	0.12941	-1.0528	10	0.87932	D	0	.	13.774	0.63041	0.0:0.2939:0.7061:0.0	.	232	Q13606	OR5I1_HUMAN	F	232	ENSP00000301532:S232F	ENSP00000301532:S232F	S	-	2	0	OR5I1	55459758	0.985000	0.35326	0.033000	0.17914	0.036000	0.12997	5.527000	0.67123	0.643000	0.30638	-0.189000	0.12847	TCT	OR5I1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167825		0.458	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1	-	0	34	0	G	NM_006637		55703182	-1	tier1	-	no_errors	ENST00000301532	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.001	A	A	55703182	G	A	55703182	3	1	138	1	0	0	0	0	1	0	0	0	11203	942	33	3	252	3	OR5I1	11	55703182	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	4291316	55703182	79303334	159	35321											
OR5M10	390167	genome.wustl.edu	37	chr11	56345015	56345015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagaggtgaccaaggaaGaaatacatgggtgtttgcag	15	7	15	4	0	0	3	0	1	0	2	0	5	0	4	1	4	2	2	1	4	5	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:56345015G>T	ENST00000526812.2	-	1	248	c.183C>A	c.(181-183)ttC>ttA	p.F61L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	61						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						GACCAAGGAAGAAATACATGG	0.463																																																	0													171	164	166					11																	56345015		1960	4159	6119	SO:0001583	missense	0			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.183C>A	11.37:g.56345015G>T	ENSP00000436004:p.Phe61Leu		B9EIL9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F61L	ENST00000526812.2	37	c.183	CCDS53630.1	11	.	.	.	.	.	.	.	.	.	.	G	9.671	1.146837	0.21288	.	.	ENSG00000254834	ENST00000526812	T	0.00551	6.65	4.04	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00875	0.0029	M	0.80028	2.48	0.30353	N	0.784609	B	0.24675	0.109	B	0.24394	0.053	T	0.02560	-1.1141	9	0.62326	D	0.03	.	9.5561	0.39339	0.1903:0.0:0.8097:0.0	.	61	Q6IEU7	OR5MA_HUMAN	L	61	ENSP00000436004:F61L	ENSP00000436004:F61L	F	-	3	2	OR5M10	56101591	0.581000	0.26741	1.000000	0.80357	0.185000	0.23345	-0.108000	0.10857	1.039000	0.40074	-0.164000	0.13417	TTC	OR5M10	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000254834		0.463	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M10	HGNC	protein_coding	OTTHUMT00000391609.1	-	0	63	0	G	NM_001004741		56345015	-1	tier1	-	no_errors	ENST00000526812	ensembl	human	known	74_37	missense	10.67	67	8	SNP	0.996	T	T	56345015	G	T	56345015	3	4	138	1	0	0	0	0	1	0	0	0	11212	933	33	3	768	3	OR5M10	11	56345015	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	641833	56345015	78661501	160	35322											
OR5M1	390168	genome.wustl.edu	37	chr11	56380545	56380545	+	Missense_Mutation	SNP	A	A	G	1	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	catacatgtaagggatagtgAccagacagacacagatgttc	15	8	10	8	0	0	4	0	1	0	3	1	5	0	5	1	1	1	2	1	1	3	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:56380545A>G	ENST00000526538.1	-	1	433	c.434T>C	c.(433-435)gTc>gCc	p.V145A		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	145						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						AGGGATAGTGACCAGACAGAC	0.433																																																	0													130	112	118					11																	56380545		1965	4167	6132	SO:0001583	missense	0			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.434T>C	11.37:g.56380545A>G	ENSP00000435416:p.Val145Ala		Q6IF60|Q96RB6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V145A	ENST00000526538.1	37	c.434	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	A	2.711	-0.268811	0.05716	.	.	ENSG00000255012	ENST00000526538	T	0.39056	1.1	3.71	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36002	N	0.002846	T	0.21674	0.0522	N	0.10874	0.06	0.09310	N	1	B	0.14438	0.01	B	0.26517	0.07	T	0.13308	-1.0514	10	0.30854	T	0.27	-61.7982	6.9414	0.24494	0.8122:0.0:0.1878:0.0	.	145	Q8NGP8	OR5M1_HUMAN	A	145	ENSP00000435416:V145A	ENSP00000435416:V145A	V	-	2	0	OR5M1	56137121	0.002000	0.14202	0.014000	0.15608	0.038000	0.13279	1.749000	0.38319	1.586000	0.49944	0.232000	0.17820	GTC	OR5M1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000255012		0.433	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1	-	0	18	0	A	NM_001004740		56380545	-1	tier1	-	no_errors	ENST00000526538	ensembl	human	known	74_37	missense	26.32	28	10	SNP	0.098	G	G	56380545	A	G	56380545	3	3	138	1	0	0	0	0	1	0	0	0	11211	275	10	4	517	4	OR5M1	11	56380545	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	35530	56380545	78625971	161	35323											
SLC22A11	55867	genome.wustl.edu	37	chr11	64331893	64331893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggaggccaagaacctgaCcatagaggtgagatgctgct	13	6	13	9	0	0	4	0	2	0	3	0	6	0	5	3	3	3	2	3	3	4	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:64331893C>T	ENST00000301891.4	+	5	1309	c.935C>T	c.(934-936)aCc>aTc	p.T312I	SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.T312I|SLC22A11_ENST00000377585.3_Missense_Mutation_p.T312I	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	312					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)	AAGAACCTGACCATAGAGGTG	0.567																																																	0													93	86	89					11																	64331893		2201	4297	6498	SO:0001583	missense	0			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.935C>T	11.37:g.64331893C>T	ENSP00000301891:p.Thr312Ile		A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T312I	ENST00000301891.4	37	c.935	CCDS8074.1	11	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184776	0.57909	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.71934	-0.61;-0.61;-0.61	4.31	3.39	0.38822	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.942280	0.02869	N	0.131355	D	0.84165	0.5412	M	0.76170	2.325	0.19945	N	0.99994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	T	0.62937	-0.6748	10	0.22706	T	0.39	.	11.3147	0.49386	0.1834:0.8166:0.0:0.0	.	312;106;312;312	Q9NSA0-2;Q8NBZ3;A6NCG2;Q9NSA0	.;.;.;S22AB_HUMAN	I	312	ENSP00000301891:T312I;ENSP00000366809:T312I;ENSP00000366804:T312I	ENSP00000301891:T312I	T	+	2	0	SLC22A11	64088469	0.303000	0.24463	0.449000	0.26957	0.270000	0.26580	0.673000	0.25203	1.022000	0.39626	0.573000	0.79308	ACC	SLC22A11	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000168065		0.567	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A11	HGNC	protein_coding	OTTHUMT00000104886.4	-	0	61	0	C	NM_018484		64331893	1	tier1	-	no_errors	ENST00000301891	ensembl	human	known	74_37	missense	21.88	50	14	SNP	0.424	T	T	64331893	C	T	64331893	3	4	138	1	0	0	0	0	1	0	0	0	14487	507	18	3	953	3	SLC22A11	11	64331893	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	7951348	64331893	70674623	162	35324											
SLC22A20	823	genome.wustl.edu	37	chr11	64981529	64981529	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacactgaggcctccacCaacgactcgggggcctggct	9	5	11	16	2	0	1	0	1	0	0	2	2	1	1	5	4	2	1	5	4	2	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:64981529C>T	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AGGCCTCCACCAACGACTCGG	0.701																																																	0													10	13	12					11																	64981529		1885	4070	5955	SO:0001628	intergenic_variant	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981529C>T			Q2TTR0|Q6DHV4	RNA	SNP	-	NULL	ENST00000527323.1	37	NULL	CCDS44644.1	11																																																																																			SLC22A20	-	-	ENSG00000197847		0.701	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC22A20	HGNC	protein_coding	OTTHUMT00000385325.1	-	0	104	0	C			64981529	1	tier1	-	no_errors	ENST00000525264	ensembl	human	known	74_37	rna	16.13	78	15	SNP	0.007	T	T	64981529	C	T	64981529	1	4	138	0	1	0	0	0	0	0	0	0	14496	581	21	3		3	SLC22A20	11	64981529	IGR	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	649636	64981529	70024987	163	35325											
PCNXL3	399909	genome.wustl.edu	37	chr11	65385641	65385641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tggtgaggaccagcagtcgaCgggaacaacgcaggggggca	11	3	18	9	3	0	1	0	1	0	0	1	4	0	3	1	6	3	3	1	6	2	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:65385641C>T	ENST00000355703.3	+	6	1347	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	270						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CAGCAGTCGACGGGAACAACG	0.677																																																	0													19	24	22					11																	65385641		1934	4132	6066	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.808C>T	11.37:g.65385641C>T	ENSP00000347931:p.Arg270Trp		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.R270W	ENST00000355703.3	37	c.808	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373386	0.61624	.	.	ENSG00000197136	ENST00000355703	T	0.08546	3.08	5.11	1.78	0.24846	.	0.000000	0.36134	N	0.002774	T	0.04998	0.0134	N	0.08118	0	0.28532	N	0.912545	D	0.63880	0.993	B	0.44133	0.442	T	0.24190	-1.0167	10	0.72032	D	0.01	.	10.4701	0.44631	0.613:0.387:0.0:0.0	.	270	Q9H6A9	PCX3_HUMAN	W	270	ENSP00000347931:R270W	ENSP00000347931:R270W	R	+	1	2	PCNXL3	65142217	0.398000	0.25279	0.994000	0.49952	0.931000	0.56810	0.624000	0.24462	0.501000	0.28013	0.655000	0.94253	CGG	PCNXL3	-	NULL	ENSG00000197136		0.677	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	-	0	34	0	C	NM_032223		65385641	1	tier1	-	no_errors	ENST00000355703	ensembl	human	known	74_37	missense	43.48	13	10	SNP	0.993	T	T	65385641	C	T	65385641	3	4	138	1	0	0	0	0	1	0	0	0	11632	527	19	1	830	1	PCNXL3	11	65385641	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	404112	65385641	69620875	164	35326											
FAT3	120114	genome.wustl.edu	37	chr11	92532369	92532369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgagctggaccatctgCgtgtggccagagtggtggtc	5	9	17	10	2	1	2	0	1	1	1	2	3	1	3	3	4	2	1	3	4	0	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:92532369C>T	ENST00000298047.6	+	9	6207	c.6190C>T	c.(6190-6192)Cgt>Tgt	p.R2064C	FAT3_ENST00000525166.1_Missense_Mutation_p.R1914C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2064C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2064	Cadherin 18. {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)	p.R2064C(2)		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)				GGACCATCTGCGTGTGGCCAG	0.507										TCGA Ovarian(4;0.039)																																							2	Substitution - Missense(2)	endometrium(2)											65	70	68					11																	92532369		1991	4177	6168	SO:0001583	missense	0			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.6190C>T	11.37:g.92532369C>T	ENSP00000298047:p.Arg2064Cys		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R2064C	ENST00000298047.6	37	c.6190		11	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335022	0.60853	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01767	4.65;4.65;4.65	5.9	5.9	0.94986	.	.	.	.	.	T	0.17195	0.0413	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.01149	-1.1436	9	0.66056	D	0.02	.	20.2822	0.98520	0.0:1.0:0.0:0.0	.	2064	Q8TDW7-3	.	C	2064;2064;1914	ENSP00000298047:R2064C;ENSP00000387040:R2064C;ENSP00000432586:R1914C	ENSP00000298047:R2064C	R	+	1	0	FAT3	92172017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.788000	0.55446	2.806000	0.96561	0.655000	0.94253	CGT	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.507	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	45	0	C	NM_001008781		92532369	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	15.38	33	6	SNP	1.000	T	T	92532369	C	T	92532369	3	4	138	1	0	0	0	0	1	0	0	0	5713	768	27	1	6224	1	FAT3	11	92532369	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	27146728	92532369	42474147	165	35327											
ATM	472	genome.wustl.edu	37	chr11	108164101	108164101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	taatgaaaacctctatatcaCgattaagcttttagatcctt	14	15	4	8	1	2	2	1	1	1	1	3	3	3	2	2	0	2	1	2	0	7	7	rs587781712		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:108164101C>T	ENST00000452508.2	+	32	4862	c.4673C>T	c.(4672-4674)aCg>aTg	p.T1558M	ATM_ENST00000278616.4_Missense_Mutation_p.T1558M			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1558					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)	CTCTATATCACGATTAAGCTT	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"	0													93	95	94					11																	108164101		2200	4294	6494	SO:0001583	missense	0	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.4673C>T	11.37:g.108164101C>T	ENSP00000388058:p.Thr1558Met		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T1558M	ENST00000452508.2	37	c.4673	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264451	0.39995	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01430	4.9;4.9	5.31	4.4	0.53042	Armadillo-type fold (1);	0.259820	0.45361	N	0.000366	T	0.02047	0.0064	L	0.44542	1.39	0.32123	N	0.587716	B	0.17268	0.021	B	0.13407	0.009	T	0.07558	-1.0766	10	0.44086	T	0.13	.	14.1278	0.65233	0.0:0.9273:0.0:0.0727	.	1558	Q13315	ATM_HUMAN	M	1558	ENSP00000278616:T1558M;ENSP00000388058:T1558M	ENSP00000278616:T1558M	T	+	2	0	ATM	107669311	0.593000	0.26840	0.939000	0.37840	0.982000	0.71751	2.072000	0.41510	1.369000	0.46134	0.655000	0.94253	ACG	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.299	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	66	0	C	NM_000051		108164101	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.996	T	T	108164101	C	T	108164101	3	4	138	1	0	0	0	0	1	0	0	0	1110	536	19	1	4791	1	ATM	11	108164101	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	15631732	108164101	26842415	166	35328											
DLAT	1737	genome.wustl.edu	37	chr11	111897025	111897026	+	Splice_Site	INS	-	-	A																															ggtgacctaattgcagaggtINSaagttttttttttttttttt																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr11:111897025_111897026insA	ENST00000280346.6	+	2	1040		c.e2+2		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)		ATTGCAGAGGTAAGtttttttt	0.391																																																	0																																										SO:0001630	splice_region_variant	0			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.381+2->A	11.37:g.111897027_111897027dupA			Q16783|Q53EP3	Splice_Site	INS	-	e2+2	ENST00000280346.6	37	c.381+2_381+1	CCDS8354.1	11																																																																																			DLAT	-	-	ENSG00000150768		0.391	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLAT	HGNC	protein_coding	OTTHUMT00000258167.1		0	53	0	-	NM_001931	Intron	111897026	1	tier1		no_errors	ENST00000280346	ensembl	human	known	74_37	splice_site_ins	6.82	41	3	INS	1.000:0.997	A	A	111897026	-	A	111897025	8	5	138	1	0	1	1	0	0	0	1	0	4563	1652	57	0	389	0	DLAT	11	111897025	Splice_Site	INS	-	TCGA-Q9-A6FW-01A-31D-A31U-09	3732924	111897025	23109491	167	35329											
CLEC4D	338339	genome.wustl.edu	37	chr12	8672900	8672900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agaatgccaaaggtcagtggCgttgggtggaccagacgcca	11	6	15	9	2	1	2	1	0	0	2	1	3	1	3	3	4	1	1	3	4	2	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	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	0			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	12.37:g.8672900C>T	ENSP00000299665:p.Arg155Cys		Q8N5J5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.R155C	ENST00000299665.2	37	c.463	CCDS8593.1	12	.	.	.	.	.	.	.	.	.	.	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	CLEC4D	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000166527		0.403	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4D	HGNC	protein_coding	OTTHUMT00000400565.1		0	34	0	C	NM_080387		8672900	1			no_errors	ENST00000299665	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.422	T	T	8672900	C	T	8672900	3	4	138	1	0	0	0	0	1	0	0	0	3521	768	27	1	481	1	CLEC4D	12	8672900	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09		8672900	125178995	168	35330											
GPR19	2842	genome.wustl.edu	37	chr12	12814845	12814845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tgccgcaatcattttcttggCtttttctctggacaccttga	6	17	7	11	1	3	1	1	1	2	0	4	2	3	2	2	2	1	2	2	2	1	6			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr12:12814845C>A	ENST00000540510.1	-	2	730	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	GPR19_ENST00000332427.2_Missense_Mutation_p.A180S			P46093	GPR4_HUMAN	G protein-coupled receptor 19	131					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)		ATTTTCTTGGCTTTTTCTCTG	0.478																																																	0													118	102	107					12																	12814845		2203	4300	6503	SO:0001583	missense	0				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.538G>T	12.37:g.12814845C>A	ENSP00000441832:p.Ala180Ser		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A180S	ENST00000540510.1	37	c.538	CCDS8652.1	12	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533923	0.45073	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.41758	0.99;0.99	5.67	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	L	0.39085	1.19	0.58432	D	0.999993	D	0.61080	0.989	D	0.64144	0.922	T	0.47497	-0.9113	10	0.33940	T	0.23	-25.2443	15.6592	0.77169	0.1385:0.8615:0.0:0.0	.	180	Q15760	GPR19_HUMAN	S	180	ENSP00000441832:A180S;ENSP00000333744:A180S	ENSP00000333744:A180S	A	-	1	0	GPR19	12706112	1.000000	0.71417	0.997000	0.53966	0.001000	0.01503	7.760000	0.85248	1.379000	0.46325	-0.314000	0.08810	GCC	GPR19	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183150		0.478	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR19	HGNC	protein_coding	OTTHUMT00000400662.1	-	0	46	0	C	NM_006143		12814845	-1	tier1	-	no_errors	ENST00000332427	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A	A	12814845	C	A	12814845	3	1	138	1	0	0	0	0	1	0	0	0	6705	797	28	3	713	3	GPR19	12	12814845	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	4141945	12814845	121037050	169	35331											
FAR2	55711	genome.wustl.edu	37	chr12	29474775	29474775	+	Missense_Mutation	SNP	A	A	G	1	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	aagaactgtttccatgttggAgtatttcatcaaccggagtt	11	14	9	7	1	2	1	2	0	0	1	3	3	3	3	2	2	2	4	2	2	4	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr12:29474775A>G	ENST00000536681.3	+	10	1421	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G	FAR2_ENST00000182377.4_Missense_Mutation_p.E392G|FAR2_ENST00000547116.1_Missense_Mutation_p.E295G	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	392					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						TCCATGTTGGAGTATTTCATC	0.443																																																	0													170	153	159					12																	29474775		2203	4300	6503	SO:0001583	missense	0			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.1175A>G	12.37:g.29474775A>G	ENSP00000443291:p.Glu392Gly		F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like	p.E392G	ENST00000536681.3	37	c.1175	CCDS8717.1	12	.	.	.	.	.	.	.	.	.	.	A	16.78	3.216702	0.58452	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	T;T;T	0.33654	1.82;1.82;1.4	4.49	4.49	0.54785	.	0.183723	0.45867	D	0.000323	T	0.50137	0.1598	M	0.70108	2.13	0.58432	D	0.999991	D	0.57571	0.98	P	0.57009	0.811	T	0.51795	-0.8660	10	0.49607	T	0.09	-9.8745	10.1268	0.42654	1.0:0.0:0.0:0.0	.	392	Q96K12	FACR2_HUMAN	G	392;392;295	ENSP00000443291:E392G;ENSP00000182377:E392G;ENSP00000449349:E295G	ENSP00000182377:E392G	E	+	2	0	FAR2	29366042	1.000000	0.71417	0.998000	0.56505	0.161000	0.22273	8.045000	0.89436	1.878000	0.54408	0.379000	0.24179	GAG	FAR2	-	pfam_FAR	ENSG00000064763		0.443	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	HGNC	protein_coding	OTTHUMT00000403479.2	-	0	63	0	A	NM_018099		29474775	1	tier1	-	no_errors	ENST00000182377	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	G	G	29474775	A	G	29474775	3	3	138	1	0	0	0	0	1	0	0	0	5697	304	11	4	1209	4	FAR2	12	29474775	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	16659930	29474775	104377120	170	35332											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43771277	43771277	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgataaactataggccgaAgtcgatggagcttatgtttc	11	13	10	7	2	0	1	0	1	0	0	2	4	0	2	1	2	2	2	1	2	6	6			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr12:43771277A>C	ENST00000389420.3	-	32	4885	c.4886T>G	c.(4885-4887)cTt>cGt	p.L1629R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1629	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TATAGGCCGAAGTCGATGGAG	0.408																																																	0													135	124	128					12																	43771277		2203	4300	6503	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4886T>G	12.37:g.43771277A>C	ENSP00000374071:p.Leu1629Arg		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L1629R	ENST00000389420.3	37	c.4886	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613954	0.28712	.	.	ENSG00000173157	ENST00000389420	T	0.59906	0.23	5.08	3.93	0.45458	.	0.000000	0.46442	D	0.000295	T	0.66867	0.2833	M	0.61703	1.905	0.80722	D	1	D	0.63046	0.992	P	0.61328	0.887	T	0.63620	-0.6596	10	0.27082	T	0.32	.	11.2151	0.48821	0.9267:0.0:0.0733:0.0	.	1629	P59510	ATS20_HUMAN	R	1629	ENSP00000374071:L1629R	ENSP00000374071:L1629R	L	-	2	0	ADAMTS20	42057544	0.992000	0.36948	0.034000	0.17996	0.037000	0.13140	3.642000	0.54367	1.031000	0.39867	0.533000	0.62120	CTT	ADAMTS20	-	superfamily_Thrombospondin_1_rpt	ENSG00000173157		0.408	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	-	0	74	0	A	NM_025003		43771277	-1	tier1	-	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	17.02	39	8	SNP	0.960	C	C	43771277	A	C	43771277	3	2	138	1	0	0	0	0	1	0	0	0	266	72	3	4	877	4	ADAMTS20	12	43771277	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	14296502	43771277	90080618	171	35333											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43846085	43846085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtttacttaccatacactGgccttgaacacagatgtcat	12	13	6	10	0	1	2	1	1	0	1	1	2	1	2	2	1	4	1	2	1	5	6			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr12:43846085G>T	ENST00000389420.3	-	14	2070	c.2071C>A	c.(2071-2073)Cag>Aag	p.Q691K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Q691K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	691	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCATACACTGGCCTTGAACA	0.308																																																	0													85	79	81					12																	43846085		2203	4298	6501	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2071C>A	12.37:g.43846085G>T	ENSP00000374071:p.Gln691Lys		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q691K	ENST00000389420.3	37	c.2071	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	G	3.927	-0.016875	0.07681	.	.	ENSG00000173157	ENST00000389420;ENST00000553158	T;T	0.65364	-0.15;0.39	4.54	0.374	0.16183	.	1.175160	0.06625	N	0.758057	T	0.41604	0.1166	N	0.17872	0.535	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.46303	-0.9201	10	0.44086	T	0.13	.	0.6252	0.00785	0.1782:0.1822:0.2125:0.4271	.	691	P59510	ATS20_HUMAN	K	691	ENSP00000374071:Q691K;ENSP00000448341:Q691K	ENSP00000374071:Q691K	Q	-	1	0	ADAMTS20	42132352	1.000000	0.71417	0.420000	0.26596	0.148000	0.21650	1.684000	0.37649	0.173000	0.19788	-0.485000	0.04761	CAG	ADAMTS20	-	prints_Peptidase_M12B_ADAM-TS	ENSG00000173157		0.308	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	-	0	65	0	G	NM_025003		43846085	-1	tier1	-	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	21.74	36	10	SNP	0.981	T	T	43846085	G	T	43846085	3	4	138	1	0	0	0	0	1	0	0	0	266	1357	47	3	3764	3	ADAMTS20	12	43846085	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	74808	43846085	90005810	172	35334											
CAND1	55832	genome.wustl.edu	37	chr12	67688905	67688905	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atgtctctgttcagctagaaGccttggatattatggctgat	9	15	10	7	0	2	2	1	1	1	1	3	3	2	3	1	2	2	3	1	2	4	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr12:67688905G>T	ENST00000545606.1	+	4	897	c.460G>T	c.(460-462)Gcc>Tcc	p.A154S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	154					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCAGCTAGAAGCCTTGGATAT	0.378																																																	0													161	143	149					12																	67688905		2203	4300	6503	SO:0001583	missense	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.460G>T	12.37:g.67688905G>T	ENSP00000442318:p.Ala154Ser		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.A154S	ENST00000545606.1	37	c.460	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718876	0.89205	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.72505	-0.66	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	L	0.53729	1.69	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	T	0.79286	-0.1866	9	.	.	.	-0.696	18.6231	0.91328	0.0:0.0:1.0:0.0	.	154	Q86VP6	CAND1_HUMAN	S	154	ENSP00000442318:A154S	.	A	+	1	0	CAND1	65975172	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.813000	0.99286	2.409000	0.81822	0.460000	0.39030	GCC	CAND1	-	superfamily_ARM-type_fold	ENSG00000111530		0.378	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1		0	70	0	G	NM_018448		67688905	1			no_errors	ENST00000545606	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	67688905	G	T	67688905	3	4	138	1	0	0	0	0	1	0	0	0	2622	971	34	3	474	3	CAND1	12	67688905	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	23842820	67688905	66162990	173	35335											
TMPO	7112	genome.wustl.edu	37	chr12	98941483	98941483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgtcaagtcagaaaaGacaaaaaagggacgctccat	18	5	10	8	1	2	3	2	0	0	3	3	4	3	4	1	1	0	2	1	1	6	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr12:98941483G>T	ENST00000556029.1	+	9	1568	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	TMPO_ENST00000393053.2_Missense_Mutation_p.K295N|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Missense_Mutation_p.K364N	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	404	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						AGTCAGAAAAGACAAAAAAGG	0.403																																																	0													111	110	110					12																	98941483		2203	4300	6503	SO:0001583	missense	0				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.1212G>T	12.37:g.98941483G>T	ENSP00000450627:p.Lys404Asn		A2T926|Q14861	Missense_Mutation	SNP	pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom	p.K404N	ENST00000556029.1	37	c.1212	CCDS31879.1	12	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792020	0.50102	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053	T;T;T	0.66460	0.15;0.12;-0.21	5.59	3.77	0.43336	.	.	.	.	.	T	0.77110	0.4082	M	0.71581	2.175	0.80722	D	1	D;P	0.71674	0.998;0.956	D;P	0.78314	0.991;0.527	T	0.76517	-0.2930	9	0.72032	D	0.01	.	7.2697	0.26250	0.3664:0.0:0.6336:0.0	.	328;404	Q59G12;P42167	.;LAP2B_HUMAN	N	404;364;295	ENSP00000450627:K404N;ENSP00000340251:K364N;ENSP00000376773:K295N	ENSP00000340251:K404N	K	+	3	2	TMPO	97465614	0.881000	0.30235	0.998000	0.56505	0.989000	0.77384	0.624000	0.24462	0.832000	0.34804	0.655000	0.94253	AAG	TMPO	-	NULL	ENSG00000120802		0.403	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	-	0	57	0	G	NM_003276		98941483	1	tier1	-	no_errors	ENST00000556029	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.990	T	T	98941483	G	T	98941483	3	4	138	1	0	0	0	0	1	0	0	0	16284	933	33	3	2770	3	TMPO	12	98941483	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	31252578	98941483	34910412	174	35336											
FICD	11153	genome.wustl.edu	37	chr12	108912645	108912645	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	ctacgccgtgcccgggaagaGcctggaggagcagaacgagg	10	3	17	11	4	0	2	0	0	0	2	0	6	0	5	3	4	5	1	3	4	3	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr12:108912645G>C	ENST00000552695.1	+	3	1005	c.770G>C	c.(769-771)aGc>aCc	p.S257T	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	257					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						CCCGGGAAGAGCCTGGAGGAG	0.587																																																	0													89	66	73					12																	108912645		2203	4300	6503	SO:0001583	missense	0			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.770G>C	12.37:g.108912645G>C	ENSP00000446479:p.Ser257Thr		O75406	Missense_Mutation	SNP	pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S257T	ENST00000552695.1	37	c.770	CCDS9116.1	12	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524434	0.85600	.	.	ENSG00000198855	ENST00000552695	.	.	.	6.07	6.07	0.98685	Filamentation induced by cAMP/death on curing-related (1);	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.71938	-0.4441	9	0.42905	T	0.14	-0.2088	20.6439	0.99570	0.0:0.0:1.0:0.0	.	257	Q9BVA6	FICD_HUMAN	T	257	.	ENSP00000446479:S257T	S	+	2	0	FICD	107436775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	AGC	FICD	-	NULL	ENSG00000198855		0.587	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FICD	HGNC	protein_coding	OTTHUMT00000404842.1		0	16	0	G	NM_007076		108912645	1			no_errors	ENST00000552695	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	C	C	108912645	G	C	108912645	3	2	138	1	0	0	0	0	1	0	0	0	5909	971	34	5	776	5	FICD	12	108912645	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	9971162	108912645	24939250	175	35337											
OAS3	4940	genome.wustl.edu	37	chr12	113376342	113376342	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgccgggcggccatggacTtgtacagcaccccggccgct	5	6	14	16	5	0	0	0	0	0	0	0	1	0	1	5	4	3	3	5	4	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr12:113376342T>G	ENST00000228928.7	+	1	186	c.7T>G	c.(7-9)Ttg>Gtg	p.L3V	OAS3_ENST00000548514.1_Missense_Mutation_p.L3V|OAS3_ENST00000551007.1_Missense_Mutation_p.L3V|RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	3					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGCCATGGACTTGTACAGCAC	0.692																																																	0													11	13	13					12																	113376342		1763	3935	5698	SO:0001583	missense	0			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.7T>G	12.37:g.113376342T>G	ENSP00000228928:p.Leu3Val		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.L3V	ENST00000228928.7	37	c.7	CCDS44981.1	12	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090305	0.36855	.	.	ENSG00000111331	ENST00000228928;ENST00000551007;ENST00000548514;ENST00000323881	T;T;T	0.11604	2.76;2.76;2.76	3.11	-1.3	0.09259	.	.	.	.	.	T	0.09158	0.0226	L	0.52206	1.635	0.80722	D	1	B;B;B	0.34372	0.002;0.137;0.451	B;B;B	0.33568	0.003;0.073;0.166	T	0.21381	-1.0247	9	0.51188	T	0.08	.	6.1368	0.20237	0.0:0.4971:0.31:0.1929	.	3;3;3	Q9Y6K5;F8VS35;F8VWK9	OAS3_HUMAN;.;.	V	3	ENSP00000228928:L3V;ENSP00000449299:L3V;ENSP00000448388:L3V	ENSP00000228928:L3V	L	+	1	2	OAS3	111860725	0.529000	0.26322	0.988000	0.46212	0.142000	0.21351	-0.247000	0.08866	0.028000	0.15324	-0.677000	0.03784	TTG	OAS3	-	NULL	ENSG00000111331		0.692	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1		0	9	0	T			113376342	1			no_errors	ENST00000228928	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.982	G	G	113376342	T	G	113376342	3	3	138	1	0	0	0	0	1	0	0	0	10840	1606	56	4	9	4	OAS3	12	113376342	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	4463697	113376342	20475553	176	35338											
TAOK3	51347	genome.wustl.edu	37	chr12	118682750	118682750	+	Missense_Mutation	SNP	A	A	C	1	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	ttcttaattgccaccacctcActggtgtgagcatttgtagc	8	14	8	11	0	2	1	1	1	1	0	2	1	2	1	3	1	3	2	3	1	2	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr12:118682750A>C	ENST00000392533.3	-	4	631	c.141T>G	c.(139-141)agT>agG	p.S47R	TAOK3_ENST00000419821.2_Missense_Mutation_p.S47R	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	47	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> N (in dbSNP:rs428073). {ECO:0000269|PubMed:13679851, ECO:0000269|PubMed:17344846, ECO:0000269|Ref.4}.		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)					CCACCACCTCACTGGTGTGAG	0.368																																																	0													145	138	140					12																	118682750		2203	4300	6503	SO:0001583	missense	0			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.141T>G	12.37:g.118682750A>C	ENSP00000376317:p.Ser47Arg		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S47R	ENST00000392533.3	37	c.141	CCDS9188.1	12	.	.	.	.	.	.	.	.	.	.	A	12.18	1.861515	0.32884	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186;ENST00000541878;ENST00000542902	T;T;T;T;T;T	0.43688	1.84;1.84;1.84;1.84;0.94;0.94	5.14	1.19	0.21007	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	0.20495	0.0493	N	0.10733	0.035	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03875	-1.0996	10	0.42905	T	0.14	.	8.7499	0.34609	0.7579:0.0:0.2421:0.0	.	47	Q9H2K8	TAOK3_HUMAN	R	47	ENSP00000416374:S47R;ENSP00000376317:S47R;ENSP00000443465:S47R;ENSP00000438820:S47R;ENSP00000444057:S47R;ENSP00000440315:S47R	ENSP00000376317:S47R	S	-	3	2	TAOK3	117167133	0.996000	0.38824	0.998000	0.56505	0.671000	0.39405	0.584000	0.23864	0.046000	0.15833	-0.376000	0.06991	AGT	TAOK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135090		0.368	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	-	0	30	0	A	NM_016281		118682750	-1	tier1	-	no_errors	ENST00000392533	ensembl	human	known	74_37	missense	28.57	10	4	SNP	1.000	C	C	118682750	A	C	118682750	3	2	138	1	0	0	0	0	1	0	0	0	15596	156	6	4	2627	4	TAOK3	12	118682750	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	5306408	118682750	15169145	177	35339											
TMEM132D	121256	genome.wustl.edu	37	chr12	130184584	130184584	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctgtccggatcccattgcTtctcctcgcgtcttccctga	3	13	8	17	3	2	1	0	1	2	0	7	2	5	2	5	1	1	1	5	1	0	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr12:130184584T>G	ENST00000422113.2	-	2	1065	c.739A>C	c.(739-741)Agc>Cgc	p.S247R	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	247					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCCCATTGCTTCTCCTCGCG	0.622																																																	0													98	86	90					12																	130184584		2203	4300	6503	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.739A>C	12.37:g.130184584T>G	ENSP00000408581:p.Ser247Arg		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.S247R	ENST00000422113.2	37	c.739	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	T	6.509	0.462062	0.12342	.	.	ENSG00000151952	ENST00000422113	T	0.10288	2.89	5.21	-4.96	0.03038	.	0.840280	0.10623	N	0.653166	T	0.05960	0.0155	L	0.27053	0.805	0.09310	N	1	B	0.30973	0.302	B	0.23716	0.048	T	0.30534	-0.9975	9	.	.	.	-3.4553	10.3771	0.44088	0.0:0.5597:0.1188:0.3214	.	247	Q14C87	T132D_HUMAN	R	247	ENSP00000408581:S247R	.	S	-	1	0	TMEM132D	128750537	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.688000	0.05150	-1.278000	0.02408	-0.417000	0.06048	AGC	TMEM132D	-	NULL	ENSG00000151952		0.622	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1		0	31	0	T	NM_133448		130184584	-1			no_errors	ENST00000422113	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.000	G	G	130184584	T	G	130184584	3	3	138	1	0	0	0	0	1	0	0	0	16094	1609	56	4	2592	4	TMEM132D	12	130184584	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	11501834	130184584	3667311	178	35340											
NAA16	79612	genome.wustl.edu	37	chr13	41894959	41894959	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagagaccttgaaggttaccGagtaagtacttcattcttaa	13	12	9	7	1	2	2	1	1	1	1	2	5	2	2	2	1	2	3	2	1	5	7			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr13:41894959G>A	ENST00000379406.3	+	4	725	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	NAA16_ENST00000403412.3_Splice_Site_p.R134Q|NAA16_ENST00000379367.3_Splice_Site_p.R134Q	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	134					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						GAAGGTTACCGAGTAAGTACT	0.358																																																	0													49	48	48					13																	41894959		2203	4300	6503	SO:0001630	splice_region_variant	0			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.402+1G>A	13.37:g.41894959G>A			B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R134Q	ENST00000379406.3	37	c.401	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885687	0.72410	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.60171	0.21;0.21;0.21	4.99	4.99	0.66335	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.224873	0.29253	N	0.012684	T	0.75860	0.3907	M	0.75777	2.31	0.53688	D	0.999971	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.68621	0.938;0.959;0.956	T	0.78036	-0.2361	10	0.59425	D	0.04	-6.7463	18.4393	0.90660	0.0:0.0:1.0:0.0	.	134;134;134	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	Q	134	ENSP00000368674:R134Q;ENSP00000368716:R134Q;ENSP00000386103:R134Q	ENSP00000368674:R134Q	R	+	2	0	NAA16	40792959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.196000	0.77805	2.588000	0.87417	0.655000	0.94253	CGA	NAA16	-	pirsf_NatA_aux_su,pfscan_TPR-contain_dom	ENSG00000172766		0.358	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	-	0	56	0	G	NM_018527	Missense_Mutation	41894959	1	tier1	-	no_errors	ENST00000379406	ensembl	human	known	74_37	missense	13.73	44	7	SNP	1.000	A	A	41894959	G	A	41894959	5	1	138	1	0	0	0	0	0	0	1	0	10157	1072	37	1	415	1	NAA16	13	41894959	Splice_Site	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09		41894959	73274919	179	35341											
SLITRK5	26050	genome.wustl.edu	37	chr13	88328573	88328573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtatttacacaccaccccGgcgtcagtgaattctgtggc	8	10	11	12	2	2	1	1	1	1	0	2	1	2	1	3	3	1	1	3	3	3	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr13:88328573G>A	ENST00000325089.6	+	2	1149	c.930G>A	c.(928-930)ccG>ccA	p.P310P	SLITRK5_ENST00000400028.3_Silent_p.P69P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	310					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACACCACCCCGGCGTCAGTGA	0.557																																																	0													63	71	68					13																	88328573		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.930G>A	13.37:g.88328573G>A			B3KNB8|B4DSH5|Q5VT81	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P310	ENST00000325089.6	37	c.930	CCDS9465.1	13																																																																																			SLITRK5	-	NULL	ENSG00000165300		0.557	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3		0	38	0	G			88328573	1			no_errors	ENST00000325089	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.027	A	A	88328573	G	A	88328573	2	1	138	1	0	0	0	0	0	0	0	1	14791	1103	39	1		1	SLITRK5	13	88328573	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	46433614	88328573	26841305	180	35342											
DAOA	267012	genome.wustl.edu	37	chr13	106124928	106124928	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagacggtaacaaggaaaGaaggatggaagagaaggcat	19	3	16	3	1	0	3	0	0	0	3	0	9	0	6	0	5	1	2	0	5	6	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr13:106124928G>T	ENST00000375936.3	+	3	221	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	59					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AACAAGGAAAGAAGGATGGAA	0.403																																																	0													167	164	165					13																	106124928		1927	4120	6047	SO:0001587	stop_gained	0			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"G72 transcript"	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.175G>T	13.37:g.106124928G>T	ENSP00000365103:p.Glu59*		A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Nonsense_Mutation	SNP	NULL	p.E59*	ENST00000375936.3	37	c.175	CCDS41905.1	13	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915534	0.52546	.	.	ENSG00000182346	ENST00000375936	.	.	.	3.39	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.579	0.17238	0.2563:0.0:0.7437:0.0	.	.	.	.	X	59	.	ENSP00000365103:E59X	E	+	1	0	DAOA	104922929	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-0.515000	0.06290	0.442000	0.26555	0.555000	0.69702	GAA	DAOA	-	NULL	ENSG00000182346		0.403	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DAOA	HGNC	protein_coding	OTTHUMT00000099040.2		0	47	0	G	NM_172370		106124928	1			no_errors	ENST00000375936	ensembl	human	known	74_37	nonsense	9.52	57	6	SNP	0.000	T	T	106124928	G	T	106124928	4	4	138	1	0	0	0	0	0	1	0	0	4241	943	33	3	185	3	DAOA	13	106124928	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	17796355	106124928	9044950	181	35343											
APEX1	328	genome.wustl.edu	37	chr14	20925203	20925203	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtggctgaatttgactcgTttgtgctggtaacagcatat	8	16	11	6	1	0	2	0	2	0	0	1	2	0	2	0	2	3	5	0	2	3	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr14:20925203T>G	ENST00000216714.3	+	5	761	c.493T>G	c.(493-495)Ttt>Gtt	p.F165V	APEX1_ENST00000398030.4_Missense_Mutation_p.F165V|APEX1_ENST00000555414.1_Missense_Mutation_p.F165V|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000557054.1_Intron|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	165					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)	ATTTGACTCGTTTGTGCTGGT	0.478								Other BER factors																																									0													73	74	74					14																	20925203		2203	4300	6503	SO:0001583	missense	0			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.493T>G	14.37:g.20925203T>G	ENSP00000216714:p.Phe165Val		Q969L5|Q99775	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1	p.F165V	ENST00000216714.3	37	c.493	CCDS9550.1	14	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049763	0.75846	.	.	ENSG00000100823	ENST00000555414;ENST00000216714;ENST00000553681;ENST00000398030;ENST00000556054;ENST00000557592;ENST00000557150	T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;0.01;-1.27;-1.27	5.79	5.79	0.91817	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.82572	0.5066	L	0.45744	1.44	0.80722	D	1	P	0.49447	0.924	P	0.57720	0.826	D	0.84334	0.0523	10	0.87932	D	0	.	15.118	0.72419	0.0:0.0:0.0:1.0	.	165	P27695	APEX1_HUMAN	V	165;165;165;165;165;148;148	ENSP00000451979:F165V;ENSP00000216714:F165V;ENSP00000451327:F165V;ENSP00000381111:F165V;ENSP00000451170:F165V;ENSP00000451060:F148V;ENSP00000452418:F148V	ENSP00000216714:F165V	F	+	1	0	APEX1	19995043	1.000000	0.71417	0.897000	0.35233	0.882000	0.50991	5.673000	0.68109	2.207000	0.71202	0.533000	0.62120	TTT	APEX1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1	ENSG00000100823		0.478	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX1	HGNC	protein_coding	OTTHUMT00000073641.3	-	0	27	0	T	NM_001641		20925203	1	tier1	-	no_errors	ENST00000216714	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.998	G	G	20925203	T	G	20925203	3	3	138	1	0	0	0	0	1	0	0	0	769	1725	60	4	507	4	APEX1	14	20925203	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09		20925203	86424337	182	35344											
RALGAPA1	253959	genome.wustl.edu	37	chr14	36096451	36096451	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattctttttcttctgtatgTtgcttaaggatagcattaat	10	20	6	5	0	3	0	0	0	3	0	3	1	3	1	0	1	2	4	0	1	5	9			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr14:36096451T>G	ENST00000389698.3	-	33	5574	c.5184A>C	c.(5182-5184)caA>caC	p.Q1728H	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.Q1728H|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.Q1775H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.Q1741H	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1728	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				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						CTTCTGTATGTTGCTTAAGGA	0.353																																																	0													67	66	66					14																	36096451		2203	4295	6498	SO:0001583	missense	0			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.5184A>C	14.37:g.36096451T>G	ENSP00000374348:p.Gln1728His		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.Q1775H	ENST00000389698.3	37	c.5325	CCDS32065.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.98|15.98	2.993990|2.993990	0.54041|0.54041	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000554573|ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	.|D;D;D;D;D;D	.|0.93712	.|-3.27;-3.27;-3.27;-3.27;-3.27;-3.27	5.4|5.4	0.136|0.136	0.14780|0.14780	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95513|0.95513	0.8542|0.8542	M|M	0.78285|0.78285	2.405|2.405	0.46499|0.46499	D|D	0.999077|0.999077	.|D;P;P;D	.|0.76494	.|0.999;0.855;0.947;0.989	.|D;P;P;P	.|0.85130	.|0.997;0.667;0.777;0.878	D|D	0.94023|0.94023	0.7294|0.7294	5|10	.|0.87932	.|D	.|0	-12.2717|-12.2717	10.1517|10.1517	0.42799|0.42799	0.0:0.5089:0.0:0.4911|0.0:0.5089:0.0:0.4911	.|.	.|1775;1741;1728;1728	.|Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.|.;.;.;RGPA1_HUMAN	T|H	11|1728;1728;1728;1775;366;1741;1775	.|ENSP00000374348:Q1728H;ENSP00000302647:Q1728H;ENSP00000258840:Q1775H;ENSP00000451133:Q366H;ENSP00000371803:Q1741H;ENSP00000451877:Q1775H	.|ENSP00000258840:Q1775H	N|Q	-|-	2|3	0|2	RALGAPA1|RALGAPA1	35166202|35166202	0.997000|0.997000	0.39634|0.39634	0.993000|0.993000	0.49108|0.49108	0.997000|0.997000	0.91878|0.91878	0.818000|0.818000	0.27295|0.27295	0.061000|0.061000	0.16311|0.16311	0.533000|0.533000	0.62120|0.62120	AAC|CAA	RALGAPA1	-	NULL	ENSG00000174373		0.353	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	-	0	138	0	T	XM_210022		36096451	-1	tier1	-	no_errors	ENST00000258840	ensembl	human	known	74_37	missense	20.30	106	27	SNP	0.997	G	G	36096451	T	G	36096451	3	3	138	1	0	0	0	0	1	0	0	0	13058	1722	60	4	1111	4	RALGAPA1	14	36096451	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	15171248	36096451	71253089	183	35345											
SAV1	60485	genome.wustl.edu	37	chr14	51132289	51132289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctggaagacagatatcaGttcgtcttggaattgttgga	12	13	11	5	1	3	2	1	0	2	2	4	5	3	5	0	3	0	2	0	3	4	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr14:51132289G>C	ENST00000324679.4	-	2	506	c.143C>G	c.(142-144)aCt>aGt	p.T48S	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	48					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)					ACAGATATCAGTTCGTCTTGG	0.363																																																	0													38	39	39					14																	51132289		2202	4300	6502	SO:0001583	missense	0			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.143C>G	14.37:g.51132289G>C	ENSP00000324729:p.Thr48Ser		A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_SARAH_dom,pfscan_WW_dom	p.T48S	ENST00000324679.4	37	c.143	CCDS9701.1	14	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632412	0.46944	.	.	ENSG00000151748	ENST00000324679;ENST00000535862	T	0.41400	1.0	5.18	5.18	0.71444	.	0.100972	0.64402	D	0.000003	T	0.29914	0.0748	N	0.17082	0.46	0.38333	D	0.94384	B	0.19331	0.035	B	0.19946	0.027	T	0.11966	-1.0566	10	0.21540	T	0.41	-2.8107	17.6718	0.88220	0.0:0.0:1.0:0.0	.	48	Q9H4B6	SAV1_HUMAN	S	48;15	ENSP00000324729:T48S	ENSP00000324729:T48S	T	-	2	0	SAV1	50202039	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.087000	0.94110	2.422000	0.82143	0.563000	0.77884	ACT	SAV1	-	NULL	ENSG00000151748		0.363	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAV1	HGNC	protein_coding	OTTHUMT00000276879.1	-	0	52	0	G			51132289	-1	tier1	-	no_errors	ENST00000324679	ensembl	human	known	74_37	missense	12.68	62	9	SNP	1.000	C	C	51132289	G	C	51132289	3	2	138	1	0	0	0	0	1	0	0	0	13901	1029	36	5	1024	5	SAV1	14	51132289	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	15035838	51132289	56217251	184	35346											
NIN	51199	genome.wustl.edu	37	chr14	51223369	51223369	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctagtcagctcctgtaacTttgttttctccagttctaac	7	17	5	12	0	3	0	1	0	2	0	6	0	5	0	3	0	3	4	3	0	3	7			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr14:51223369T>A	ENST00000382041.3	-	18	4569	c.4379A>T	c.(4378-4380)aAg>aTg	p.K1460M	NIN_ENST00000530997.2_Missense_Mutation_p.K1460M|NIN_ENST00000245441.5_Missense_Mutation_p.K1460M|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.K1460M|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.K1460M	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1460					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)					ctcctgtaactttgttttctc	0.408			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													114	90	98					14																	51223369		2185	4264	6449	SO:0001583	missense	0			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.4379A>T	14.37:g.51223369T>A	ENSP00000371472:p.Lys1460Met		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.K1460M	ENST00000382041.3	37	c.4379	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.72|17.72	3.459690|3.459690	0.63401|0.63401	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.08546|.	3.35;3.08;3.08;3.08|.	5.59|5.59	4.42|4.42	0.53409|0.53409	.|.	0.165539|0.165539	0.39985|0.39985	N|N	0.001211|0.001211	T|T	0.48909|0.48909	0.1526|0.1526	L|L	0.54323|0.54323	1.7|1.7	0.32106|0.32106	N|N	0.589947|0.589947	D;D;P;P|.	0.61080|.	0.989;0.979;0.925;0.828|.	P;P;P;B|.	0.51170|.	0.661;0.561;0.661;0.392|.	T|T	0.58493|0.58493	-0.7627|-0.7627	10|6	0.66056|.	D|.	0.02|.	-17.1474|-17.1474	8.662|8.662	0.34099|0.34099	0.0:0.0896:0.0:0.9104|0.0:0.0896:0.0:0.9104	.|.	1466;1460;1460;1460|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	M|N	1460;1443;1466;1460;1460;1460|950	ENSP00000245441:K1460M;ENSP00000371472:K1460M;ENSP00000324210:K1460M;ENSP00000412391:K1460M|.	ENSP00000245441:K1460M|.	K|K	-|-	2|3	0|2	NIN|NIN	50293119|50293119	0.247000|0.247000	0.23920|0.23920	0.990000|0.990000	0.47175|0.47175	0.991000|0.991000	0.79684|0.79684	0.720000|0.720000	0.25896|0.25896	2.122000|2.122000	0.65172|0.65172	0.533000|0.533000	0.62120|0.62120	AAG|AAA	NIN	-	NULL	ENSG00000100503		0.408	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	-	0	65	0	T	NM_182946		51223369	-1	tier1	-	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	16.39	51	10	SNP	0.992	A	A	51223369	T	A	51223369	3	1	138	1	0	0	0	0	1	0	0	0	10456	1609	56	5	2226	5	NIN	14	51223369	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	91080	51223369	56126171	185	35347											
TBPL2	387332	genome.wustl.edu	37	chr14	55890916	55890916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	agatacaaagataagcaacaCaattcgtggttttaccattc	16	11	6	8	1	0	2	0	0	0	2	2	2	0	2	1	1	4	2	1	1	6	6			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr14:55890916C>T	ENST00000247219.5	-	6	1082	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						ATAAGCAACACAATTCGTGGT	0.333																																																	0													124	112	116					14																	55890916		2203	4299	6502	SO:0001583	missense	0			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.1012G>A	14.37:g.55890916C>T	ENSP00000247219:p.Val338Met			Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.V338M	ENST00000247219.5	37	c.1012	CCDS9724.1	14	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899847	0.72754	.	.	ENSG00000182521	ENST00000247219	T	0.58060	0.36	5.41	5.41	0.78517	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83514	0.5271	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89788	0.3966	10	0.87932	D	0	-14.4097	18.1951	0.89818	0.0:1.0:0.0:0.0	.	338	Q6SJ96	TBPL2_HUMAN	M	338	ENSP00000247219:V338M	ENSP00000247219:V338M	V	-	1	0	TBPL2	54960669	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	7.655000	0.83696	2.535000	0.85469	0.650000	0.86243	GTG	TBPL2	-	pfam_TBP,prints_TBP	ENSG00000182521		0.333	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL2	HGNC	protein_coding	OTTHUMT00000276916.1	-	0	42	0	C	NM_199047		55890916	-1	tier1	-	no_errors	ENST00000247219	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	T	T	55890916	C	T	55890916	3	4	138	1	0	0	0	0	1	0	0	0	15693	478	17	3	123	3	TBPL2	14	55890916	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	4667547	55890916	51458624	186	35348											
KCNH5	27133	genome.wustl.edu	37	chr14	63447960	63447960	+	Missense_Mutation	SNP	A	A	C	1	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	cttgtttatactgaggaaggAtatctgatcccagctgaaga	12	12	10	7	0	1	4	0	3	1	1	2	6	2	6	1	2	2	2	1	2	5	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr14:63447960A>C	ENST00000322893.7	-	6	840	c.572T>G	c.(571-573)aTc>aGc	p.I191S	KCNH5_ENST00000394968.1_Missense_Mutation_p.I133S|KCNH5_ENST00000420622.2_Missense_Mutation_p.I191S|KCNH5_ENST00000394964.2_Missense_Mutation_p.I133S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	191					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)		CTGAGGAAGGATATCTGATCC	0.363																																																	0													63	66	65					14																	63447960		2203	4300	6503	SO:0001583	missense	0			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.572T>G	14.37:g.63447960A>C	ENSP00000321427:p.Ile191Ser		C9JP98	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.I191S	ENST00000322893.7	37	c.572	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	A	15.75	2.924694	0.52653	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98849	-5.18;-4.98;-4.97;-4.96	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	L	0.35593	1.075	0.80722	D	1	B;B;B;P	0.37824	0.141;0.317;0.167;0.609	B;B;B;B	0.37780	0.155;0.124;0.053;0.258	D	0.96779	0.9574	10	0.49607	T	0.09	.	15.1763	0.72913	1.0:0.0:0.0:0.0	.	133;133;191;191	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	S	191;191;133;133	ENSP00000321427:I191S;ENSP00000395439:I191S;ENSP00000378419:I133S;ENSP00000378415:I133S	ENSP00000321427:I191S	I	-	2	0	KCNH5	62517713	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.273000	0.95719	1.991000	0.58162	0.377000	0.23210	ATC	KCNH5	-	prints_K_chnl_volt-dep_EAG	ENSG00000140015		0.363	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1		0	15	0	A	NM_139318		63447960	-1			no_errors	ENST00000322893	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	C	C	63447960	A	C	63447960	3	2	138	1	0	0	0	0	1	0	0	0	8062	333	12	4	2452	4	KCNH5	14	63447960	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	7557044	63447960	43901580	187	35349											
ADAM21	8747	genome.wustl.edu	37	chr14	70925692	70925692	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gaagatagatatgtgcaggaCgggatcccctgtagtgacag	12	8	14	7	1	0	3	0	1	0	2	1	6	1	5	2	2	1	2	2	2	4	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr14:70925692C>T	ENST00000603540.1	+	2	1734	c.1476C>T	c.(1474-1476)gaC>gaT	p.D492D	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.D492D	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	492	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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.D492E(2)		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)		ATGTGCAGGACGGGATCCCCT	0.448																																																	2	Substitution - Missense(2)	lung(2)											92	86	88					14																	70925692		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1476C>T	14.37:g.70925692C>T			O43507|Q2VPC6|Q32MR0	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D492	ENST00000603540.1	37	c.1476	CCDS9804.1	14																																																																																			ADAM21	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000139985		0.448	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3		0	101	0	C			70925692	1			no_errors	ENST00000267499	ensembl	human	known	74_37	silent	7.46	62	5	SNP	0.997	T	T	70925692	C	T	70925692	2	4	138	1	0	0	0	0	0	0	0	1	243	535	19	1		1	ADAM21	14	70925692	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	7477732	70925692	36423848	188	35350											
TC2N	123036	genome.wustl.edu	37	chr14	92258843	92258844	+	Frame_Shift_Ins	INS	-	-	A																															gaatcttaaatacaagtcttINSacagtttgtagattttgaag																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr14:92258843_92258844insA	ENST00000435962.2	-	9	1237_1238	c.914_915insT	c.(913-915)gtafs	p.V305fs	TC2N_ENST00000556018.1_Intron|TC2N_ENST00000340892.5_Frame_Shift_Ins_p.V305fs|TC2N_ENST00000360594.5_Frame_Shift_Ins_p.V305fs	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	305					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ATACAAGTCTTACAGTTTGTAG	0.307																																																	0																																										SO:0001589	frameshift_variant	0			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"C2 calcium-dependent domain containing 1"		"chromosome 14 open reading frame 47", "membrane targeting (tandem) C2 domain containing 1"	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.915dupT	14.37:g.92258844_92258844dupA	ENSP00000387882:p.Val305fs			Frame_Shift_Ins	INS	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R306fs	ENST00000435962.2	37	c.915_914	CCDS9897.1	14																																																																																			TC2N	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000165929		0.307	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	HGNC	protein_coding	OTTHUMT00000411778.1		0	106	0	-	NM_152332		92258844	-1	tier1		no_errors	ENST00000340892	ensembl	human	known	74_37	frame_shift_ins	6.32	89	6	INS	0.303:0.904	A	A	92258844	-	A	92258843	7	5	138	1	0	1	1	0	0	0	0	0	15712	1741	61	0	573	0	TC2N	14	92258843	Frame_Shift_Ins	INS	-	TCGA-Q9-A6FW-01A-31D-A31U-09	21333151	92258843	15090697	189	35351											
PPP4R4	57718	genome.wustl.edu	37	chr14	94712746	94712746	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagctgctgaacagcgagCtgcagcctctttaaaatgga	12	8	10	11	1	1	1	0	1	1	0	1	3	1	2	1	1	7	4	1	1	3	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr14:94712746C>G	ENST00000304338.3	+	14	1635	c.1481C>G	c.(1480-1482)gCt>gGt	p.A494G		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	494					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						GAACAGCGAGCTGCAGCCTCT	0.398																																																	0													75	76	76					14																	94712746		2203	4300	6503	SO:0001583	missense	0			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.1481C>G	14.37:g.94712746C>G	ENSP00000305924:p.Ala494Gly		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A494G	ENST00000304338.3	37	c.1481	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314193	0.81358	.	.	ENSG00000119698	ENST00000304338	T	0.30981	1.51	5.78	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.102107	0.64402	D	0.000002	T	0.40767	0.1130	L	0.56769	1.78	0.80722	D	1	P	0.43885	0.82	P	0.49999	0.628	T	0.33007	-0.9885	10	0.72032	D	0.01	-6.2645	11.2141	0.48817	0.0:0.8595:0.0:0.1405	.	494	Q6NUP7	PP4R4_HUMAN	G	494	ENSP00000305924:A494G	ENSP00000305924:A494G	A	+	2	0	PPP4R4	93782499	0.999000	0.42202	0.990000	0.47175	0.997000	0.91878	4.056000	0.57448	1.587000	0.49959	0.655000	0.94253	GCT	PPP4R4	-	superfamily_ARM-type_fold	ENSG00000119698		0.398	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1		0	48	0	C	NM_058237		94712746	1			no_errors	ENST00000304338	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.974	G	G	94712746	C	G	94712746	3	3	138	1	0	0	0	0	1	0	0	0	12447	797	28	5	1608	5	PPP4R4	14	94712746	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	2453903	94712746	12636794	190	35352											
SERPINA9	327657	genome.wustl.edu	37	chr14	94936069	94936069	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgaggcaggggtgctctTtgtggaggaagggcgggggt	5	9	22	5	1	1	1	0	1	1	0	1	3	1	3	0	8	1	2	0	8	1	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr14:94936069T>C	ENST00000380365.3	-	2	187	c.109A>G	c.(109-111)Aag>Gag	p.K37E	SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000298845.7_Missense_Mutation_p.K55E|SERPINA9_ENST00000337425.5_Missense_Mutation_p.K55E|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	37					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGGGTGCTCTTTGTGGAGGAA	0.552																																																	0													82	84	84					14																	94936069		2004	4169	6173	SO:0001583	missense	0			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.109A>G	14.37:g.94936069T>C	ENSP00000369723:p.Lys37Glu		B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.K55E	ENST00000380365.3	37	c.163		14	.	.	.	.	.	.	.	.	.	.	T	8.940	0.965500	0.18583	.	.	ENSG00000170054	ENST00000298845;ENST00000337425;ENST00000380365	D;D;D	0.87029	-2.2;-2.2;-2.2	3.99	2.83	0.33086	Serpin domain (1);	6.977240	0.00769	U	0.001198	T	0.75576	0.3868	N	0.08118	0	0.09310	N	1	B;B;B	0.27932	0.002;0.003;0.194	B;B;B	0.20767	0.004;0.01;0.031	T	0.66638	-0.5873	10	0.87932	D	0	.	4.5667	0.12189	0.0:0.1076:0.1945:0.6979	.	37;55;55	Q86WD7;Q86WD7-7;Q86WD7-2	SPA9_HUMAN;.;.	E	55;55;37	ENSP00000298845:K55E;ENSP00000337133:K55E;ENSP00000369723:K37E	ENSP00000298845:K55E	K	-	1	0	SERPINA9	94005822	0.001000	0.12720	0.000000	0.03702	0.217000	0.24651	0.645000	0.24782	0.525000	0.28522	-0.856000	0.03024	AAG	SERPINA9	-	superfamily_Serpin_dom	ENSG00000170054		0.552	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	SERPINA9	HGNC	protein_coding	OTTHUMT00000395803.2		0	34	0	T	NM_175739		94936069	-1			no_errors	ENST00000337425	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.001	C	C	94936069	T	C	94936069	3	2	138	1	0	0	0	0	1	0	0	0	14140	1850	64	4	1160	4	SERPINA9	14	94936069	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	223323	94936069	12413471	191	35353											
C14orf49	161176	genome.wustl.edu	37	chr14	95921763	95921763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctcggtccccgctttcGccgcaggctgcaggccctcc	2	8	11	20	5	0	0	0	0	0	0	5	0	3	0	6	3	1	4	6	3	0	1	rs142727232		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr14:95921763G>A	ENST00000334258.5	-	5	1102	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	SYNE3_ENST00000557275.1_Missense_Mutation_p.A363V|SYNE3_ENST00000553340.1_Missense_Mutation_p.A363V|SYNE3_ENST00000554873.1_Missense_Mutation_p.A120V	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	363					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)	p.A363V(1)		breast(1)|endometrium(2)|lung(25)	28						CCCCGCTTTCGCCGCAGGCTG	0.652																																																	1	Substitution - Missense(1)	prostate(1)						C	VAL/ALA	1,4405		0,1,2202	30	33	32		1088	-9.4	0	14	dbSNP_134	32	0,8600		0,0,4300	no	missense	C14orf49	NM_152592.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	363/976	95921763	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1088C>T	14.37:g.95921763G>A	ENSP00000334308:p.Ala363Val		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.A363V	ENST00000334258.5	37	c.1088	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	g	5.655	0.305492	0.10678	2.27E-4	0.0	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.35973	3.53;1.28;3.53;2.94	4.99	-9.44	0.00603	.	1.724190	0.03672	N	0.244098	T	0.17238	0.0414	L	0.31294	0.92	0.09310	N	1	B;B;B	0.16166	0.016;0.009;0.009	B;B;B	0.11329	0.006;0.004;0.003	T	0.14504	-1.0470	10	0.19590	T	0.45	-3.9851	0.4105	0.00440	0.3651:0.1557:0.1687:0.3106	.	363;363;363	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	V	363;120;363;363	ENSP00000334308:A363V;ENSP00000452154:A120V;ENSP00000450562:A363V;ENSP00000450774:A363V	ENSP00000334308:A363V	A	-	2	0	C14orf49	94991516	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.109000	0.03309	-1.615000	0.01573	-1.507000	0.00952	GCG	SYNE3	-	NULL	ENSG00000176438		0.652	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	-	0	43	0	G	NM_152592		95921763	-1	tier1	rs142727232	no_errors	ENST00000334258	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.000	A	A	95921763	G	A	95921763	3	1	138	1	0	0	0	0	1	0	0	0	1781	1087	38	1	1891	1	C14orf49	14	95921763	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	985694	95921763	11427777	192	35354											
RTL1	388015	genome.wustl.edu	37	chr14	101348911	101348911	+	Missense_Mutation	SNP	A	A	C	1	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	gtgctcctcctgactcattgAgtagatcaggacttcctggc	7	12	10	12	0	2	3	2	2	0	1	5	4	5	4	3	2	1	2	3	2	1	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr14:101348911A>C	ENST00000534062.1	-	1	2273	c.2215T>G	c.(2215-2217)Tca>Gca	p.S739A	MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR431_ENST00000385266.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	739					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						TGACTCATTGAGTAGATCAGG	0.537																																																	0													100	94	96					14																	101348911		692	1591	2283	SO:0001583	missense	0				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.2215T>G	14.37:g.101348911A>C	ENSP00000435342:p.Ser739Ala		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.S739A	ENST00000534062.1	37	c.2215	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273146	0.59649	.	.	ENSG00000254656	ENST00000534062	T	0.53857	0.6	3.81	3.81	0.43845	.	0.000000	0.33534	N	0.004813	T	0.72366	0.3451	M	0.85542	2.76	0.29425	N	0.860271	D	0.76494	0.999	D	0.76071	0.987	T	0.70375	-0.4889	10	0.87932	D	0	.	11.1911	0.48685	1.0:0.0:0.0:0.0	.	739	E9PKS8	.	A	739	ENSP00000435342:S739A	ENSP00000435342:S739A	S	-	1	0	RTL1	100418664	1.000000	0.71417	0.997000	0.53966	0.543000	0.35085	6.381000	0.73163	1.967000	0.57214	0.459000	0.35465	TCA	RTL1	-	NULL	ENSG00000254656		0.537	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1		0	28	0	A	NM_001134888		101348911	-1			no_errors	ENST00000534062	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	C	C	101348911	A	C	101348911	3	2	138	1	0	0	0	0	1	0	0	0	13769	304	11	4	1865	4	RTL1	14	101348911	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	5427148	101348911	6000629	193	35355											
HERC2	8924	genome.wustl.edu	37	chr15	28389296	28389296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgcttctgttagaggcaagGttgagtcggaagtctaacag	11	11	13	6	1	2	2	0	1	2	1	3	3	2	3	0	3	2	4	0	3	4	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr15:28389296G>T	ENST00000261609.7	-	73	11334	c.11226C>A	c.(11224-11226)aaC>aaA	p.N3742K		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)		TAGAGGCAAGGTTGAGTCGGA	0.537																																																	0													126	110	115					15																	28389296		2203	4300	6503	SO:0001583	missense	0			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.11226C>A	15.37:g.28389296G>T	ENSP00000261609:p.Asn3742Lys			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.N3742K	ENST00000261609.7	37	c.11226	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016530	0.35606	.	.	ENSG00000128731	ENST00000261609	T	0.36878	1.23	5.66	-4.05	0.03998	.	0.046189	0.85682	D	0.000000	T	0.11495	0.0280	N	0.03608	-0.345	0.49483	D	0.999794	B	0.23377	0.084	B	0.17722	0.019	T	0.34950	-0.9808	10	0.06494	T	0.89	.	12.1774	0.54194	0.5615:0.0:0.4385:0.0	.	3742	O95714	HERC2_HUMAN	K	3742	ENSP00000261609:N3742K	ENSP00000261609:N3742K	N	-	3	2	HERC2	26062891	1.000000	0.71417	0.519000	0.27824	0.965000	0.64279	0.795000	0.26972	-0.668000	0.05296	-0.302000	0.09304	AAC	HERC2	-	NULL	ENSG00000128731		0.537	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	21	0	G	NM_004667		28389296	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.998	T	T	28389296	G	T	28389296	3	4	138	1	0	0	0	0	1	0	0	0	7085	1252	44	3	3362	3	HERC2	15	28389296	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09		28389296	74142096	194	35356											
PLA2G4D	283748	genome.wustl.edu	37	chr15	42375440	42375440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctagggctgccatgtagtGgaagcggaaggcagaggctg	9	7	17	8	1	1	1	0	0	1	1	1	3	1	3	1	5	2	4	1	5	4	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr15:42375440G>A	ENST00000290472.3	-	8	722	c.628C>T	c.(628-630)Cac>Tac	p.H210Y		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	210					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)		GCCATGTAGTGGAAGCGGAAG	0.602																																																	0													79	76	77					15																	42375440		2203	4299	6502	SO:0001583	missense	0			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.628C>T	15.37:g.42375440G>A	ENSP00000290472:p.His210Tyr		Q8N176	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.H210Y	ENST00000290472.3	37	c.628	CCDS32203.1	15	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560279	0.65538	.	.	ENSG00000159337	ENST00000290472	T	0.01548	4.78	3.38	3.38	0.38709	.	0.153840	0.31312	N	0.007864	T	0.05777	0.0151	M	0.85630	2.765	0.29034	N	0.885529	D	0.61080	0.989	P	0.50082	0.63	T	0.05699	-1.0869	10	0.42905	T	0.14	-18.9738	10.4285	0.44393	0.0:0.0:1.0:0.0	.	210	Q86XP0	PA24D_HUMAN	Y	210	ENSP00000290472:H210Y	ENSP00000290472:H210Y	H	-	1	0	PLA2G4D	40162732	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.601000	0.54059	1.895000	0.54865	0.511000	0.50034	CAC	PLA2G4D	-	NULL	ENSG00000159337		0.602	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	HGNC	protein_coding	OTTHUMT00000419317.1	-	0	45	0	G	NM_178034		42375440	-1	tier1	-	no_errors	ENST00000290472	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	A	A	42375440	G	A	42375440	3	1	138	1	0	0	0	0	1	0	0	0	12043	1348	47	3	1880	3	PLA2G4D	15	42375440	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	13986144	42375440	60155952	195	35357											
FBN1	2200	genome.wustl.edu	37	chr15	48707779	48707779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacagccacacaggtaacCgccctcggtattggaacagc	11	6	11	13	2	0	0	0	0	0	0	1	2	0	2	3	4	4	2	3	4	3	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr15:48707779C>T	ENST00000316623.5	-	64	8460	c.8005G>A	c.(8005-8007)Ggt>Agt	p.G2669S	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2669	EGF-like 47; 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)		CACAGGTAACCGCCCTCGGTA	0.517																																																	0													86	75	79					15																	48707779		2198	4296	6494	SO:0001583	missense	0			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.8005G>A	15.37:g.48707779C>T	ENSP00000325527:p.Gly2669Ser		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.G2669S	ENST00000316623.5	37	c.8005	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.358537	0.95854	.	.	ENSG00000166147	ENST00000316623	D	0.89196	-2.48	5.81	5.81	0.92471	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.047666	0.85682	D	0.000000	D	0.86393	0.5922	N	0.12961	0.28	0.80722	D	1	D	0.53745	0.962	P	0.51895	0.683	D	0.86271	0.1661	10	0.36615	T	0.2	.	18.8343	0.92155	0.0:1.0:0.0:0.0	.	2669	P35555	FBN1_HUMAN	S	2669	ENSP00000325527:G2669S	ENSP00000325527:G2669S	G	-	1	0	FBN1	46495071	1.000000	0.71417	0.973000	0.42090	0.763000	0.43281	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	GGT	FBN1	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN	ENSG00000166147		0.517	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	41	0	C			48707779	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	12.24	43	6	SNP	1.000	T	T	48707779	C	T	48707779	3	4	138	1	0	0	0	0	1	0	0	0	5724	652	23	1	622	1	FBN1	15	48707779	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	6332339	48707779	53823613	196	35358											
UNC13C	440279	genome.wustl.edu	37	chr15	54786896	54786896	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatgaatatgtgcgtgaacTtcctgccttcaaggatgctg	10	13	10	8	1	1	2	1	2	0	0	2	3	2	3	2	1	4	1	2	1	5	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr15:54786896T>G	ENST00000260323.11	+	19	5024	c.5024T>G	c.(5023-5025)cTt>cGt	p.L1675R	UNC13C_ENST00000537900.1_Missense_Mutation_p.L1673R|UNC13C_ENST00000545554.1_Missense_Mutation_p.L1675R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1675	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)	p.L1675R(1)		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)		GTGCGTGAACTTCCTGCCTTC	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											167	162	164					15																	54786896		1856	4096	5952	SO:0001583	missense	0			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.5024T>G	15.37:g.54786896T>G	ENSP00000260323:p.Leu1675Arg		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L1675R	ENST00000260323.11	37	c.5024	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382471	0.82792	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;D;T	0.81499	-1.49;-1.5;-1.49	5.87	5.87	0.94306	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	D	0.90497	0.7023	M	0.85373	2.75	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91240	0.5021	10	0.54805	T	0.06	.	15.7569	0.78037	0.0:0.0:0.0:1.0	.	1675	Q8NB66	UN13C_HUMAN	R	1675;1675;1673	ENSP00000260323:L1675R;ENSP00000438156:L1675R;ENSP00000442569:L1673R	ENSP00000260323:L1675R	L	+	2	0	UNC13C	52574188	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	CTT	UNC13C	-	NULL	ENSG00000137766		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	77	0	T	NM_173166		54786896	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	11.84	67	9	SNP	1.000	G	G	54786896	T	G	54786896	3	3	138	1	0	0	0	0	1	0	0	0	17035	1609	56	4	5094	4	UNC13C	15	54786896	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	6079117	54786896	47744496	197	35359											
ZNF280D	54816	genome.wustl.edu	37	chr15	56946582	56946582	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcacagttacatatacgtaCctttctgcattacaacttgg	12	13	6	10	1	1	0	0	0	1	0	1	0	1	0	1	1	7	4	1	1	6	7			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr15:56946582C>T	ENST00000267807.7	-	18	2393		c.e18+1		ZNF280D_ENST00000559237.1_Splice_Site|ZNF280D_ENST00000559000.1_Splice_Site	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D						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)		CATATACGTACCTTTCTGCAT	0.323																																																	0													97	89	92					15																	56946582		2191	4290	6481	SO:0001630	splice_region_variant	0			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.2176+1G>A	15.37:g.56946582C>T			A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Splice_Site	SNP	-	e16+1	ENST00000267807.7	37	c.2176+1	CCDS32245.1	15	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395935	0.25205	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6646	0.91485	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF280D	54733874	1.000000	0.71417	0.987000	0.45799	0.133000	0.20885	5.502000	0.66956	2.660000	0.90430	0.655000	0.94253	.	ZNF280D	-	-	ENSG00000137871		0.323	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	HGNC	protein_coding	OTTHUMT00000418891.2	-	0	31	0	C	XM_370867	Intron	56946582	-1	tier1	-	no_errors	ENST00000267807	ensembl	human	known	74_37	splice_site	15.38	33	6	SNP	1.000	T	T	56946582	C	T	56946582	5	4	138	1	0	0	0	0	0	0	1	0	17865	521	18	3	782	3	ZNF280D	15	56946582	Splice_Site	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	2159686	56946582	45584810	198	35360											
IGDCC3	9543	genome.wustl.edu	37	chr15	65621744	65621744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgggtctggggtccGgctgccctgctgcgctggcc	1	10	16	14	2	2	0	1	0	1	0	3	0	3	0	3	5	3	3	3	5	0	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr15:65621744G>A	ENST00000327987.4	-	13	2440	c.2189C>T	c.(2188-2190)cCg>cTg	p.P730L	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	730					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTGGGGTCCGGCTGCCCTGC	0.652																																																	0													72	86	82					15																	65621744		2199	4277	6476	SO:0001583	missense	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2189C>T	15.37:g.65621744G>A	ENSP00000332773:p.Pro730Leu		O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P730L	ENST00000327987.4	37	c.2189	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281398	0.23392	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.66460	-0.21	4.89	-0.636	0.11508	.	0.885835	0.09723	N	0.764121	T	0.39784	0.1091	N	0.24115	0.695	0.09310	N	0.999997	P	0.48640	0.913	B	0.30855	0.121	T	0.34204	-0.9838	10	0.54805	T	0.06	-1.64	3.9268	0.09267	0.2972:0.0:0.5351:0.1678	.	730	Q8IVU1	IGDC3_HUMAN	L	730;554	ENSP00000332773:P730L	ENSP00000332773:P730L	P	-	2	0	IGDCC3	63408797	0.428000	0.25522	0.000000	0.03702	0.001000	0.01503	0.918000	0.28678	0.044000	0.15775	-1.202000	0.01658	CCG	IGDCC3	-	NULL	ENSG00000174498		0.652	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	-	0	99	0	G	NM_004884		65621744	-1	tier1	-	no_errors	ENST00000327987	ensembl	human	known	74_37	missense	6.82	82	6	SNP	0.000	A	A	65621744	G	A	65621744	3	1	138	1	0	0	0	0	1	0	0	0	7595	1116	39	1	263	1	IGDCC3	15	65621744	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	8675162	65621744	36909648	199	35361											
ADAMTS7	11173	genome.wustl.edu	37	chr15	79058876	79058876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagggctcggggaccaaggtCccagtaccccctcctccttg	7	7	11	16	1	0	0	0	0	0	0	4	1	3	1	6	4	1	2	6	4	3	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr15:79058876C>A	ENST00000388820.4	-	19	3587	c.3377G>T	c.(3376-3378)gGa>gTa	p.G1126V	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1126					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						GGACCAAGGTCCCAGTACCCC	0.682																																																	0													8	11	10					15																	79058876		2139	4235	6374	SO:0001583	missense	0			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.3377G>T	15.37:g.79058876C>A	ENSP00000373472:p.Gly1126Val		Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G1126V	ENST00000388820.4	37	c.3377	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	c	12.57	1.977286	0.34848	.	.	ENSG00000136378	ENST00000388820	T	0.58797	0.31	4.06	3.08	0.35506	.	0.845349	0.10355	N	0.684657	T	0.49201	0.1543	L	0.50333	1.59	0.09310	N	0.999995	P	0.39480	0.675	B	0.33121	0.158	T	0.22730	-1.0208	10	0.34782	T	0.22	.	12.2245	0.54453	0.0:0.8258:0.1742:0.0	.	1126	Q9UKP4	ATS7_HUMAN	V	1126	ENSP00000373472:G1126V	ENSP00000373472:G1126V	G	-	2	0	ADAMTS7	76845931	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.077000	0.11394	0.728000	0.32382	0.574000	0.79327	GGA	ADAMTS7	-	NULL	ENSG00000136378		0.682	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1		0	70	0	C	NM_014272		79058876	-1			no_errors	ENST00000388820	ensembl	human	known	74_37	missense	13.73	44	7	SNP	0.005	A	A	79058876	C	A	79058876	3	1	138	1	0	0	0	0	1	0	0	0	271	855	30	3	1707	3	ADAMTS7	15	79058876	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	13437132	79058876	23472516	200	35362											
FAM154B	283726	genome.wustl.edu	37	chr15	82575073	82575073	+	Missense_Mutation	SNP	T	T	G	0	1	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	agcatcatgaaagaagatttTccagcatgggaaagttgtcg	14	10	11	6	1	1	3	1	1	0	2	3	4	2	4	1	1	2	3	1	1	3	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr15:82575073T>G	ENST00000339465.5	+	3	936	c.867T>G	c.(865-867)ttT>ttG	p.F289L	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.F274L	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	289										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AAGAAGATTTTCCAGCATGGG	0.403																																																	0													63	63	63					15																	82575073		2203	4300	6503	SO:0001583	missense	0			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.867T>G	15.37:g.82575073T>G	ENSP00000340445:p.Phe289Leu		B4E2M2	Missense_Mutation	SNP	NULL	p.F289L	ENST00000339465.5	37	c.867	CCDS32310.1	15	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753418	0.69648	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.30714	1.52;1.52	4.46	-3.88	0.04205	.	0.000000	0.64402	D	0.000001	T	0.48114	0.1482	M	0.82517	2.595	0.36376	D	0.861595	D;D	0.58970	0.984;0.984	P;P	0.60012	0.867;0.867	T	0.60530	-0.7245	10	0.72032	D	0.01	-17.6924	12.6166	0.56580	0.0:0.5111:0.0:0.4889	.	274;289	B4E2M2;Q658L1	.;F154B_HUMAN	L	289;274	ENSP00000340445:F289L;ENSP00000403743:F274L	ENSP00000340445:F289L	F	+	3	2	FAM154B	80362128	0.941000	0.31946	0.958000	0.39756	0.636000	0.38137	-0.097000	0.11042	-0.720000	0.04935	0.332000	0.21555	TTT	FAM154B	-	NULL	ENSG00000188659		0.403	FAM154B-001	KNOWN	basic|CCDS	protein_coding	FAM154B	HGNC	protein_coding	OTTHUMT00000419644.1	-	0	33	0	T	NM_001008226		82575073	1	tier1	-	no_errors	ENST00000339465	ensembl	human	known	74_37	missense	16.28	36	7	SNP	0.913	G	G	82575073	T	G	82575073	3	3	138	1	0	0	0	0	1	0	0	0	5483	1780	62	4	877	4	FAM154B	15	82575073	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	3516197	82575073	19956319	201	35363											
AKAP13	11214	genome.wustl.edu	37	chr15	86207955	86207955	+	Missense_Mutation	SNP	A	A	T	1	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	agaagaggatctggagtcagAccagagagaacataggatgt	16	6	14	5	0	2	5	1	0	1	5	2	9	2	8	1	3	1	0	1	3	3	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr15:86207955A>T	ENST00000394518.2	+	13	5056	c.4961A>T	c.(4960-4962)gAc>gTc	p.D1654V	RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.D1658V	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1654					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						CTGGAGTCAGACCAGAGAGAA	0.408																																					Melanoma(94;603 1453 3280 32295 32951)												0													96	88	91					15																	86207955		2202	4299	6501	SO:0001583	missense	0			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.4961A>T	15.37:g.86207955A>T	ENSP00000378026:p.Asp1654Val		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.D1658V	ENST00000394518.2	37	c.4973	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	8.918	0.960435	0.18583	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	T;T	0.12255	2.7;2.82	5.64	-0.727	0.11166	.	.	.	.	.	T	0.11665	0.0284	L	0.40543	1.245	0.29135	N	0.879393	P;P;B	0.40875	0.731;0.612;0.429	B;B;B	0.40329	0.241;0.121;0.326	T	0.17471	-1.0368	9	0.72032	D	0.01	.	7.5176	0.27610	0.6891:0.1422:0.1686:0.0	.	1636;1654;1658	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	V	1658;1654;1657;1635;276	ENSP00000354718:D1658V;ENSP00000378026:D1654V	ENSP00000354718:D1658V	D	+	2	0	AKAP13	84008959	1.000000	0.71417	0.045000	0.18777	0.344000	0.29017	1.995000	0.40767	-0.179000	0.10654	-1.922000	0.00515	GAC	AKAP13	-	NULL	ENSG00000170776		0.408	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0	30	0	A	NM_007200		86207955	1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	11.90	37	5	SNP	0.068	T	T	86207955	A	T	86207955	3	4	138	1	0	0	0	0	1	0	0	0	449	275	10	5	5077	5	AKAP13	15	86207955	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	3632882	86207955	16323437	202	35364											
AGBL1	123624	genome.wustl.edu	37	chr15	86697696	86697696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggccctagaattggaaGcacttgatgtgacattgatt	12	11	12	6	0	0	4	0	3	0	1	0	6	0	6	1	3	1	1	1	3	4	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr15:86697696G>A	ENST00000441037.2	+	3	255	c.160G>A	c.(160-162)Gca>Aca	p.A54T	AGBL1_ENST00000421325.2_Missense_Mutation_p.A54T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	54					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						AGAATTGGAAGCACTTGATGT	0.443																																																	0													91	93	92					15																	86697696		1944	4129	6073	SO:0001583	missense	0			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.160G>A	15.37:g.86697696G>A	ENSP00000413001:p.Ala54Thr		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.A54T	ENST00000441037.2	37	c.160	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783728	0.70222	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T;T	0.68181	0.44;-0.31	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.80110	0.4563	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.79396	-0.1821	9	0.44086	T	0.13	-9.1229	15.032	0.71713	0.0:0.0:1.0:0.0	.	54	Q96MI9	CBPC4_HUMAN	T	83;54	ENSP00000413001:A83T;ENSP00000397173:A54T	ENSP00000397173:A54T	A	+	1	0	AGBL1	84498700	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	5.401000	0.66326	2.683000	0.91414	0.650000	0.86243	GCA	AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.443	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	-	0	51	0	G	NM_152336		86697696	1	tier1	-	no_errors	ENST00000441037	ensembl	human	known	74_37	missense	14.63	70	12	SNP	1.000	A	A	86697696	G	A	86697696	3	1	138	1	0	0	0	0	1	0	0	0	375	971	34	3	166	3	AGBL1	15	86697696	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	489741	86697696	15833696	203	35365											
ADAMTS17	170691	genome.wustl.edu	37	chr15	100516343	100516343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaggcttcgagagggcggGgcactcgctgccgtggcgcc	4	5	19	13	5	0	1	0	0	0	1	2	2	0	1	2	6	1	4	2	6	0	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr15:100516343G>A	ENST00000268070.4	-	21	3139	c.3034C>T	c.(3034-3036)Ccc>Tcc	p.P1012S	CTD-3076O17.2_ENST00000559400.1_RNA|CTD-3076O17.1_ENST00000528696.3_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1012	TSP type-1 5. {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)		GAGAGGGCGGGGCACTCGCTG	0.652																																																	0													51	40	44					15																	100516343		2056	3966	6022	SO:0001583	missense	0			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.3034C>T	15.37:g.100516343G>A	ENSP00000268070:p.Pro1012Ser		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1012S	ENST00000268070.4	37	c.3034	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	2.916	-0.224206	0.06061	.	.	ENSG00000140470	ENST00000268070	T	0.51574	0.7	5.28	4.35	0.52113	.	0.227318	0.37623	N	0.002016	T	0.28433	0.0703	N	0.20328	0.56	0.44807	D	0.997812	B	0.16603	0.018	B	0.15870	0.014	T	0.07195	-1.0785	10	0.07325	T	0.83	.	11.3342	0.49494	0.0:0.1367:0.7213:0.142	.	1012	Q8TE56	ATS17_HUMAN	S	1012	ENSP00000268070:P1012S	ENSP00000268070:P1012S	P	-	1	0	ADAMTS17	98333866	1.000000	0.71417	0.959000	0.39883	0.622000	0.37654	2.719000	0.47244	1.316000	0.45131	0.563000	0.77884	CCC	ADAMTS17	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000140470		0.652	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	-	0	59	0	G	NM_139057		100516343	-1	tier1	-	no_errors	ENST00000268070	ensembl	human	known	74_37	missense	10.71	50	6	SNP	0.986	A	A	100516343	G	A	100516343	3	1	138	1	0	0	0	0	1	0	0	0	262	1232	43	3	261	3	ADAMTS17	15	100516343	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	13818647	100516343	2015049	204	35366											
LMF1	64788	genome.wustl.edu	37	chr16	920018	920018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgggggcgctggcgttGgagctggctgtgccctgcag	3	8	19	11	3	0	0	0	0	0	0	1	1	0	1	1	5	3	6	1	5	0	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr16:920018G>A	ENST00000262301.11	-	9	1299	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	LMF1_ENST00000399843.2_Silent_p.S427S|LMF1_ENST00000543238.1_Silent_p.S190S|LMF1_ENST00000568897.1_Silent_p.S210S|LMF1_ENST00000568268.1_5'Flank	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	427					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CGCTGGCGTTGGAGCTGGCTG	0.677																																																	0													53	63	60					16																	920018		2159	4253	6412	SO:0001819	synonymous_variant	0			AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"chromosome 16 open reading frame 26", "transmembrane protein 112"	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1281C>T	16.37:g.920018G>A			Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Silent	SNP	pfam_LMF	p.S427	ENST00000262301.11	37	c.1281	CCDS45373.1	16																																																																																			LMF1	-	pfam_LMF	ENSG00000103227		0.677	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LMF1	HGNC	protein_coding	OTTHUMT00000109071.3	-	0	113	0	G	NM_022773		920018	-1	tier1	-	no_errors	ENST00000262301	ensembl	human	known	74_37	silent	34.57	53	28	SNP	0.907	A	A	920018	G	A	920018	2	1	138	1	0	0	0	0	0	0	0	1	8875	1335	47	3		3	LMF1	16	920018	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09		920018	89434735	205	35367											
GP2	2813	genome.wustl.edu	37	chr16	20327345	20327345	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccggtacttcactgcggacTtgacttcttgagcaagactg	8	11	11	11	2	2	3	1	2	1	1	2	4	2	4	1	2	3	2	1	2	2	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr16:20327345T>C	ENST00000381362.4	-	10	1519	c.1443A>G	c.(1441-1443)caA>caG	p.Q481Q	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000341642.5_Silent_p.Q331Q|GP2_ENST00000381360.5_Silent_p.Q334Q|GP2_ENST00000302555.5_Silent_p.Q478Q	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	481	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACTGCGGACTTGACTTCTTG	0.483																																																	0													113	105	108					16																	20327345		2203	4300	6503	SO:0001819	synonymous_variant	0			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1443A>G	16.37:g.20327345T>C			A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.Q481	ENST00000381362.4	37	c.1443	CCDS42128.1	16																																																																																			GP2	-	pfscan_ZP_dom	ENSG00000169347		0.483	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	HGNC	protein_coding	OTTHUMT00000436920.1	-	0	55	0	T	NM_016295		20327345	-1	tier1	-	no_errors	ENST00000381362	ensembl	human	known	74_37	silent	39.62	32	21	SNP	0.000	C	C	20327345	T	C	20327345	2	2	138	1	0	0	0	0	0	0	0	1	6608	1606	56	4		4	GP2	16	20327345	Silent	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	19407327	20327345	70027408	206	35368											
PHKB	5257	genome.wustl.edu	37	chr16	47614247	47614247	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctctagaagcaattaatgGattcaacctttttggcaacc	13	12	7	9	0	2	1	1	0	1	1	2	2	2	2	2	2	4	3	2	2	6	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr16:47614247G>C	ENST00000323584.5	+	8	776	c.752G>C	c.(751-753)gGa>gCa	p.G251A	PHKB_ENST00000566044.1_Missense_Mutation_p.G244A|PHKB_ENST00000455779.1_Missense_Mutation_p.G244A|PHKB_ENST00000299167.8_Missense_Mutation_p.G251A|PHKB_ENST00000567402.1_3'UTR	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	251					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)				GCAATTAATGGATTCAACCTT	0.333																																																	0													127	121	123					16																	47614247		2201	4299	6500	SO:0001583	missense	0				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.752G>C	16.37:g.47614247G>C	ENSP00000313504:p.Gly251Ala		Q8N4T5	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.G251A	ENST00000323584.5	37	c.752	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585259	0.86748	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.93019	-3.15;-3.15	5.76	4.81	0.61882	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97216	0.9090	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	0.97690	1.0178	10	0.56958	D	0.05	-23.9477	14.7507	0.69522	0.0693:0.0:0.9307:0.0	.	251;244	Q93100;Q93100-4	KPBB_HUMAN;.	A	244;244;251	ENSP00000414345:G244A;ENSP00000313504:G251A	ENSP00000299167:G244A	G	+	2	0	PHKB	46171748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.480000	0.90434	1.445000	0.47624	0.655000	0.94253	GGA	PHKB	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	ENSG00000102893		0.333	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1		0	80	0	G			47614247	1			no_errors	ENST00000299167	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	C	C	47614247	G	C	47614247	3	2	138	1	0	0	0	0	1	0	0	0	11884	1174	41	5	841	5	PHKB	16	47614247	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	27286902	47614247	42740506	207	35369											
TOX3	27324	genome.wustl.edu	37	chr16	52484404	52484404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatgtggacgatggaccGcatgatcagggagggatcct	9	8	16	8	2	2	1	2	1	0	0	3	6	3	5	2	5	0	1	2	5	0	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr16:52484404G>A	ENST00000219746.9	-	4	747	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W	TOX3_ENST00000407228.3_Missense_Mutation_p.R150W	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	155					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.R155W(1)|p.R150W(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ACGATGGACCGCATGATCAGG	0.562																																																	2	Substitution - Missense(2)	kidney(2)											91	97	95					16																	52484404		2091	4210	6301	SO:0001583	missense	0			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.463C>T	16.37:g.52484404G>A	ENSP00000219746:p.Arg155Trp		B4DRD0|B5MCW4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R155W	ENST00000219746.9	37	c.463	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413193	0.42817	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.42900	0.96;0.96	5.85	4.76	0.60689	.	0.174050	0.49916	D	0.000122	T	0.59252	0.2180	M	0.68952	2.095	0.48040	D	0.999571	D;D	0.89917	1.0;1.0	D;D	0.63283	0.913;0.913	T	0.62191	-0.6906	10	0.66056	D	0.02	.	13.1115	0.59277	0.0:0.0:0.1397:0.8602	.	150;155	B4DRD0;O15405	.;TOX3_HUMAN	W	155;150	ENSP00000219746:R155W;ENSP00000385705:R150W	ENSP00000219746:R155W	R	-	1	2	TOX3	51041905	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	2.633000	0.46519	1.049000	0.40321	-0.457000	0.05445	CGG	TOX3	-	NULL	ENSG00000103460		0.562	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1		0	36	0	G	XM_049037		52484404	-1			no_errors	ENST00000219746	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	52484404	G	A	52484404	3	1	138	1	0	0	0	0	1	0	0	0	16427	1086	38	1	1283	1	TOX3	16	52484404	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	4870157	52484404	37870349	208	35370											
CDH5	1003	genome.wustl.edu	37	chr16	66420990	66420990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcgtccgtgcctgagtcGtcggctgtgggtacgttgca	5	11	15	10	5	0	1	0	1	0	0	3	1	1	1	2	2	4	4	2	2	2	2	rs370305306		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr16:66420990G>A	ENST00000341529.3	+	3	637	c.489G>A	c.(487-489)tcG>tcA	p.S163S	CDH5_ENST00000563425.2_Silent_p.S163S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	163	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TGCCTGAGTCGTCGGCTGTGG	0.587																																																	0								G		1,4403	2.1+/-5.4	0,1,2201	114	86	96		489	3.5	1	16		96	0,8600		0,0,4300	no	coding-synonymous	CDH5	NM_001795.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		163/785	66420990	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.489G>A	16.37:g.66420990G>A			Q4VAI5|Q4VAI6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S163	ENST00000341529.3	37	c.489	CCDS10804.1	16																																																																																			CDH5	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000179776		0.587	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH5	HGNC	protein_coding	OTTHUMT00000268767.1	-	0	51	0	G	NM_001795		66420990	1	tier1	-	no_errors	ENST00000341529	ensembl	human	known	74_37	silent	12.73	48	7	SNP	1.000	A	A	66420990	G	A	66420990	2	1	138	1	0	0	0	0	0	0	0	1	3120	1132	40	1		1	CDH5	16	66420990	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	13936586	66420990	23933763	209	35371											
DYNC1LI2	1783	genome.wustl.edu	37	chr16	66776398	66776398	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcattttatcaatgtgctCacgtaaaacactagcccatt	12	15	4	10	1	3	0	3	0	0	0	3	0	3	0	1	0	3	2	1	0	5	6			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr16:66776398C>A	ENST00000258198.2	-	4	678	c.472G>T	c.(472-474)Gag>Tag	p.E158*	DYNC1LI2_ENST00000440564.2_Nonsense_Mutation_p.E119*|DYNC1LI2_ENST00000379482.2_Nonsense_Mutation_p.E158*|DYNC1LI2_ENST00000443351.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	158					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TCAATGTGCTCACGTAAAACA	0.408																																																	0													125	126	126					16																	66776398		2200	4300	6500	SO:0001587	stop_gained	0			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.472G>T	16.37:g.66776398C>A	ENSP00000258198:p.Glu158*		A8K6V1|B4DZP4|Q8TAT3	Nonsense_Mutation	SNP	pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	p.E158*	ENST00000258198.2	37	c.472	CCDS10818.1	16	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983089	0.93044	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000440564	.	.	.	5.07	5.07	0.68467	.	0.047638	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-0.2472	19.0071	0.92856	0.0:1.0:0.0:0.0	.	.	.	.	X	158;158;119	.	ENSP00000258198:E158X	E	-	1	0	DYNC1LI2	65333899	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.757000	0.68766	2.793000	0.96121	0.563000	0.77884	GAG	DYNC1LI2	-	pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	ENSG00000135720		0.408	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI2	HGNC	protein_coding	OTTHUMT00000268846.1	-	0	65	0	C	NM_006141		66776398	-1	tier1	-	no_errors	ENST00000258198	ensembl	human	known	74_37	nonsense	33.33	36	18	SNP	1.000	A	A	66776398	C	A	66776398	4	1	138	1	0	0	0	0	0	1	0	0	4859	835	29	3	1046	3	DYNC1LI2	16	66776398	Nonsense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	355408	66776398	23578355	210	35372											
HSF4	3299	genome.wustl.edu	37	chr16	67199459	67199459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcgtaagcgaccagagccGtttcgccaaggaagtgctgc	9	7	12	13	4	0	1	0	0	0	1	2	3	0	2	4	1	4	3	4	1	3	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr16:67199459G>A	ENST00000521374.1	+	2	158	c.158G>A	c.(157-159)cGt>cAt	p.R53H	HSF4_ENST00000421453.1_Missense_Mutation_p.R53H|HSF4_ENST00000264009.8_Missense_Mutation_p.R53H|RP11-5A19.5_ENST00000518227.1_3'UTR|HSF4_ENST00000584272.1_Missense_Mutation_p.R53H			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	53					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GACCAGAGCCGTTTCGCCAAG	0.642																																																	0													57	65	62					16																	67199459		2148	4279	6427	SO:0001583	missense	0			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.158G>A	16.37:g.67199459G>A	ENSP00000430947:p.Arg53His		Q99472|Q9ULV6	Missense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.R53H	ENST00000521374.1	37	c.158	CCDS42175.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.279152	0.95489	.	.	ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	5.37	5.37	0.77165	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (2);	0.227987	0.45126	D	0.000400	D	0.95695	0.8600	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.72625	0.978;0.887	D	0.95780	0.8816	10	0.66056	D	0.02	-14.4533	17.8428	0.88720	0.0:0.0:1.0:0.0	.	53;53	Q9ULV5-2;Q9ULV5	.;HSF4_HUMAN	H	53;53;53;53;11	ENSP00000408815:R53H;ENSP00000264009:R53H;ENSP00000428978:R53H;ENSP00000430947:R53H;ENSP00000430299:R11H	ENSP00000264009:R53H	R	+	2	0	HSF4	65756960	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.584000	0.60971	2.786000	0.95864	0.561000	0.74099	CGT	HSF4	-	pfam_HSF_DNA-bd,smart_HSF_DNA-bd	ENSG00000102878		0.642	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF4	HGNC	protein_coding	OTTHUMT00000375080.1	-	0	26	0	G	NM_001538		67199459	1	tier1	-	no_errors	ENST00000264009	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	A	A	67199459	G	A	67199459	3	1	138	1	0	0	0	0	1	0	0	0	7425	1145	40	1	164	1	HSF4	16	67199459	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	423061	67199459	23155294	211	35373											
ST3GAL2	6483	genome.wustl.edu	37	chr16	70417132	70417132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggacttcactggggcGtaggtgctgtaagcaaaaag	13	7	15	6	1	1	0	1	0	0	0	1	2	1	2	0	5	2	4	0	5	5	3	rs566916255		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr16:70417132G>A	ENST00000393640.4	-	4	2827	c.720C>T	c.(718-720)taC>taT	p.Y240Y	ST3GAL2_ENST00000342907.2_Silent_p.Y240Y|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	240					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TCACTGGGGCGTAGGTGCTGT	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		20258	0		0	False		,,,				2504	0																0													73	70	71					16																	70417132		2198	4300	6498	SO:0001819	synonymous_variant	0			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.720C>T	16.37:g.70417132G>A			O00654	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.Y240	ENST00000393640.4	37	c.720	CCDS10890.1	16																																																																																			ST3GAL2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000157350		0.532	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL2	HGNC	protein_coding	OTTHUMT00000268968.1		0	22	0	G	NM_006927		70417132	-1			no_errors	ENST00000342907	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.972	A	A	70417132	G	A	70417132	2	1	138	1	0	0	0	0	0	0	0	1	15262	1140	40	1		1	ST3GAL2	16	70417132	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	3217673	70417132	19937621	212	35374											
SLC43A2	124935	genome.wustl.edu	37	chr17	1531134	1531134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcaggccatccaccagCggcgccgatgggcagtggcc	6	4	15	16	4	0	0	0	0	0	0	1	1	1	0	6	4	2	2	6	4	0	0	rs535314897		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:1531134C>T	ENST00000301335.5	-	2	123	c.35G>A	c.(34-36)cGc>cAc	p.R12H	SLC43A2_ENST00000571650.1_Missense_Mutation_p.R12H|SLC43A2_ENST00000382147.4_Missense_Mutation_p.R12H	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	12					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CATCCACCAGCGGCGCCGATG	0.701													C|||	1	0.000199681	0	0	5008	,	,		9102	0		0	False		,,,				2504	0.001																0													17	14	15					17																	1531134		2195	4292	6487	SO:0001583	missense	0			BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.35G>A	17.37:g.1531134C>T	ENSP00000301335:p.Arg12His		B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.R12H	ENST00000301335.5	37	c.35	CCDS11006.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.869291	0.97049	.	.	ENSG00000167703	ENST00000301335;ENST00000382147	T;T	0.56776	0.44;0.44	4.65	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.71871	2.18	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	0.76438	-0.2959	10	0.87932	D	0	-12.6091	17.7081	0.88314	0.0:1.0:0.0:0.0	.	12;12;12	Q8N370-2;Q8N370;Q8N370-3	.;LAT4_HUMAN;.	H	12	ENSP00000301335:R12H;ENSP00000371582:R12H	ENSP00000301335:R12H	R	-	2	0	SLC43A2	1477884	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.544000	0.82117	2.415000	0.81967	0.561000	0.74099	CGC	SLC43A2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000167703		0.701	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	SLC43A2	HGNC	protein_coding	OTTHUMT00000206717.4		0	100	0	C	NM_152346		1531134	-1			no_errors	ENST00000382147	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	1531134	C	T	1531134	3	4	138	1	0	0	0	0	1	0	0	0	14678	768	27	1	1726	1	SLC43A2	17	1531134	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09		1531134	79664076	213	35375											
OR1A1	8383	genome.wustl.edu	37	chr17	3119721	3119721	+	Silent	SNP	C	C	T	0	0	0	1	1	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	accaattatagcctaaaagaCgcagtgatcactgtaatgta	16	10	7	8	1	1	2	1	1	0	1	1	2	1	2	2	0	1	3	2	0	7	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	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	0			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	17.37:g.3119721C>T			A5D914|Q6IFM1|Q6NTA9|Q96R87	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D269	ENST00000304094.1	37	c.807	CCDS11022.1	17																																																																																			OR1A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172146		0.478	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A1	HGNC	protein_coding	OTTHUMT00000207292.1	-	0	40	0	C	NM_014565		3119721	1	tier1	-	no_errors	ENST00000304094	ensembl	human	known	74_37	silent	16.00	42	8	SNP	0.002	T	T	3119721	C	T	3119721	2	4	138	1	0	0	0	0	0	0	0	1	10988	535	19	1		1	OR1A1	17	3119721	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1588587	3119721	78075489	214	35376											
TRPV1	7442	genome.wustl.edu	37	chr17	3489096	3489096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctgtagtaggcagccatgGtgaagatgatcatgtacagg	11	9	14	7	0	1	3	1	2	0	1	1	3	1	3	2	3	2	4	2	3	4	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:3489096G>A	ENST00000571088.1	-	8	1562	c.1349C>T	c.(1348-1350)aCc>aTc	p.T450I	TRPV1_ENST00000310522.5_Missense_Mutation_p.T390I|TRPV1_ENST00000425167.2_Missense_Mutation_p.T461I|TRPV1_ENST00000174621.6_Missense_Mutation_p.T448I|TRPV1_ENST00000399756.4_Missense_Mutation_p.T450I|TRPV1_ENST00000399759.3_Missense_Mutation_p.T450I|TRPV1_ENST00000576351.1_Missense_Mutation_p.T440I|SHPK_ENST00000572705.1_Missense_Mutation_p.T450I	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	450					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)	GGCAGCCATGGTGAAGATGAT	0.587																																					Melanoma(38;962 1762 15789)												0													63	72	69					17																	3489096		2091	4209	6300	SO:0001583	missense	0			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.1349C>T	17.37:g.3489096G>A	ENSP00000461007:p.Thr450Ile		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.T450I	ENST00000571088.1	37	c.1349	CCDS45576.1	17	.	.	.	.	.	.	.	.	.	.	g	18.09	3.545911	0.65198	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.95652	0.8586	M	0.85945	2.785	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.995;0.999	D	0.96450	0.9333	10	0.87932	D	0	-16.6068	16.8554	0.86004	0.0:0.0:1.0:0.0	.	450;448;390;461	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	I	450;450;448;461;390	ENSP00000382661:T450I;ENSP00000382659:T450I;ENSP00000174621:T448I;ENSP00000409627:T461I;ENSP00000311692:T390I	ENSP00000174621:T448I	T	-	2	0	TRPV1	3435845	1.000000	0.71417	0.966000	0.40874	0.244000	0.25665	9.301000	0.96167	2.266000	0.75297	0.651000	0.88453	ACC	TRPV1	-	prints_TRPV1-4_channel,tigrfam_TRP_channel	ENSG00000196689		0.587	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV1	HGNC	protein_coding	OTTHUMT00000438254.1		0	38	0	G	NM_018727		3489096	-1			no_errors	ENST00000399756	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.999	A	A	3489096	G	A	3489096	3	1	138	1	0	0	0	0	1	0	0	0	16643	1261	44	3	879	3	TRPV1	17	3489096	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	369375	3489096	77706114	215	35377											
CHRNB1	1140	genome.wustl.edu	37	chr17	7359954	7359954	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggaccgcctcttcctgtGgactttcatcatcttcacca	7	13	7	14	1	5	0	3	0	2	0	6	2	6	2	4	2	0	0	4	2	0	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:7359954G>A	ENST00000306071.2	+	11	1485	c.1418G>A	c.(1417-1419)tGg>tAg	p.W473*	CHRNB1_ENST00000576360.1_Nonsense_Mutation_p.W352*|CHRNB1_ENST00000536404.2_Nonsense_Mutation_p.W401*|CHRNB1_ENST00000575379.1_Nonsense_Mutation_p.W9*	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	473					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)	CTCTTCCTGTGGACTTTCATC	0.577																																																	0													194	150	165					17																	7359954		2203	4300	6503	SO:0001587	stop_gained	0			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.1418G>A	17.37:g.7359954G>A	ENSP00000304290:p.Trp473*		B7Z5H1|Q8IZ46|Q96FB8	Nonsense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.W473*	ENST00000306071.2	37	c.1418	CCDS11106.1	17	.	.	.	.	.	.	.	.	.	.	g	36	5.715544	0.96830	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9227	0.86168	0.0:0.0:1.0:0.0	.	.	.	.	X	473;401	.	ENSP00000304290:W473X	W	+	2	0	CHRNB1	7300678	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.528000	0.73807	2.589000	0.87451	0.550000	0.68814	TGG	CHRNB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000170175		0.577	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3	-	0	100	0	G			7359954	1	tier1	-	no_errors	ENST00000306071	ensembl	human	known	74_37	nonsense	10.91	49	6	SNP	1.000	A	A	7359954	G	A	7359954	4	1	138	1	0	0	0	0	0	1	0	0	3397	1357	47	3	1460	3	CHRNB1	17	7359954	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	3870858	7359954	73835256	216	35378											
ZBTB4	57659	genome.wustl.edu	37	chr17	7369066	7369066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacacttcatgcttcgtgCggtactccgccagagcaaac	9	8	9	15	3	1	1	1	0	0	1	3	1	2	1	3	1	5	3	3	1	2	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:7369066C>T	ENST00000311403.4	-	3	1394	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R352H	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	352					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ATGCTTCGTGCGGTACTCCGC	0.602																																																	0													55	47	49					17																	7369066		2203	4300	6503	SO:0001583	missense	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1055G>A	17.37:g.7369066C>T	ENSP00000307858:p.Arg352His		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R352H	ENST00000311403.4	37	c.1055	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782610	0.90282	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.60548	0.18;0.18	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.067836	0.64402	D	0.000016	T	0.67915	0.2944	L	0.31476	0.935	0.52099	D	0.999943	D	0.89917	1.0	D	0.91635	0.999	T	0.70490	-0.4857	10	0.72032	D	0.01	-15.5389	18.4556	0.90720	0.0:1.0:0.0:0.0	.	352	Q9P1Z0	ZBTB4_HUMAN	H	352	ENSP00000307858:R352H;ENSP00000369973:R352H	ENSP00000307858:R352H	R	-	2	0	ZBTB4	7309790	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.381000	0.79718	2.651000	0.90000	0.650000	0.86243	CGC	ZBTB4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174282		0.602	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	-	0	42	0	C	NM_020899		7369066	-1	tier1	-	no_errors	ENST00000311403	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	T	T	7369066	C	T	7369066	3	4	138	1	0	0	0	0	1	0	0	0	17589	768	27	1	1994	1	ZBTB4	17	7369066	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	9112	7369066	73826144	217	35379											
SMCR8	140775	genome.wustl.edu	37	chr17	18221391	18221391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatggctgctacgctaagcCcgtgaaacattgggcctcct	8	10	10	13	2	0	1	0	1	0	0	1	1	1	1	3	2	4	3	3	2	4	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:18221391C>T	ENST00000406438.3	+	1	2768	c.2288C>T	c.(2287-2289)cCc>cTc	p.P763L		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	763						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						TACGCTAAGCCCGTGAAACAT	0.537																																																	0													129	114	119					17																	18221391		2203	4300	6503	SO:0001583	missense	0			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.2288C>T	17.37:g.18221391C>T	ENSP00000385025:p.Pro763Leu		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	pfam_Folliculin	p.P763L	ENST00000406438.3	37	c.2288	CCDS11195.2	17	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746193	0.89663	.	.	ENSG00000176994	ENST00000406438	T	0.23147	1.92	5.55	5.55	0.83447	.	0.200670	0.41712	D	0.000837	T	0.35219	0.0924	L	0.44542	1.39	0.80722	D	1	D	0.53151	0.958	P	0.49387	0.609	T	0.04347	-1.0958	10	0.66056	D	0.02	-16.3967	19.861	0.96785	0.0:1.0:0.0:0.0	.	763	Q8TEV9	SMCR8_HUMAN	L	763	ENSP00000385025:P763L	ENSP00000385025:P763L	P	+	2	0	SMCR8	18162116	0.625000	0.27111	0.863000	0.33907	0.907000	0.53573	3.419000	0.52728	2.767000	0.95098	0.655000	0.94253	CCC	SMCR8	-	NULL	ENSG00000176994		0.537	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	-	0	40	0	C	NM_144775		18221391	1	tier1	-	no_errors	ENST00000406438	ensembl	human	known	74_37	missense	19.35	25	6	SNP	0.998	T	T	18221391	C	T	18221391	3	4	138	1	0	0	0	0	1	0	0	0	14837	623	22	3	2290	3	SMCR8	17	18221391	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	10852325	18221391	62973819	218	35380											
NLK	51701	genome.wustl.edu	37	chr17	26370318	26370318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagctggatattgagcCggatagacctattggatatg	11	10	13	7	1	0	2	0	1	0	1	0	5	0	5	2	3	3	3	2	3	4	6			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:26370318C>T	ENST00000407008.3	+	1	1137	c.419C>T	c.(418-420)cCg>cTg	p.P140L	NLK_ENST00000583517.1_3'UTR|NLK_ENST00000582037.1_Missense_Mutation_p.P140L	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GATATTGAGCCGGATAGACCT	0.507																																																	0													472	370	405					17																	26370318		2203	4300	6503	SO:0001583	missense	0			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"nemo like kinase"			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.419C>T	17.37:g.26370318C>T	ENSP00000384625:p.Pro140Leu		B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P140L	ENST00000407008.3	37	c.419	CCDS11224.2	17	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732227	0.48939	.	.	ENSG00000087095	ENST00000407008	T	0.70749	-0.51	5.65	5.65	0.86999	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	0.54711	0.1875	N	0.05177	-0.1	0.80722	D	1	P	0.48589	0.912	B	0.41236	0.351	T	0.66352	-0.5945	10	0.87932	D	0	-14.3642	18.7287	0.91726	0.0:1.0:0.0:0.0	.	140	Q9UBE8	NLK_HUMAN	L	140	ENSP00000384625:P140L	ENSP00000384625:P140L	P	+	2	0	NLK	23394445	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	7.263000	0.78421	2.655000	0.90218	0.655000	0.94253	CCG	NLK	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000087095		0.507	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLK	HGNC	protein_coding	OTTHUMT00000255607.3	-	0	309	0	C	NM_016231		26370318	1	tier1	-	no_errors	ENST00000407008	ensembl	human	known	74_37	missense	7.33	316	25	SNP	1.000	T	T	26370318	C	T	26370318	3	4	138	1	0	0	0	0	1	0	0	0	10505	652	23	1	421	1	NLK	17	26370318	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	8148927	26370318	54824892	219	35381											
SSH2	85464	genome.wustl.edu	37	chr17	27959603	27959603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcttgttccccctcagctGgttccccttcttccaagtct	3	15	6	17	0	4	0	1	0	3	0	7	0	7	0	5	1	1	4	5	1	1	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:27959603G>T	ENST00000269033.3	-	15	2679	c.2528C>A	c.(2527-2529)cCa>cAa	p.P843Q	SSH2_ENST00000540801.1_Missense_Mutation_p.P870Q|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	843					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						CCCCTCAGCTGGTTCCCCTTC	0.582																																																	0													148	131	137					17																	27959603		2203	4300	6503	SO:0001583	missense	0			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.2528C>A	17.37:g.27959603G>T	ENSP00000269033:p.Pro843Gln		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.P843Q	ENST00000269033.3	37	c.2528	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986229	0.35036	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.08546	3.08;3.08	6.08	2.62	0.31277	.	0.899640	0.09818	N	0.751910	T	0.09512	0.0234	L	0.46157	1.445	0.09310	N	1	P;P	0.49961	0.919;0.93	B;B	0.43052	0.406;0.36	T	0.27938	-1.0059	10	0.59425	D	0.04	-1.2174	6.2399	0.20785	0.2816:0.0:0.587:0.1314	.	870;843	F5H527;Q76I76	.;SSH2_HUMAN	Q	843;870	ENSP00000269033:P843Q;ENSP00000444743:P870Q	ENSP00000269033:P843Q	P	-	2	0	SSH2	24983729	0.012000	0.17670	0.878000	0.34440	0.672000	0.39443	1.172000	0.31908	0.913000	0.36797	0.655000	0.94253	CCA	SSH2	-	NULL	ENSG00000141298		0.582	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	-	0	41	0	G	NM_033389		27959603	-1	tier1	-	no_errors	ENST00000269033	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.000	T	T	27959603	G	T	27959603	3	4	138	1	0	0	0	0	1	0	0	0	15232	1348	47	3	1747	3	SSH2	17	27959603	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	1589285	27959603	53235607	220	35382											
NAGLU	4669	genome.wustl.edu	37	chr17	40693105	40693105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctgcgagagctgatcaAagagtttggcacagaccaca	12	8	10	11	1	1	4	1	1	0	3	2	5	2	4	2	1	2	3	2	1	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:40693105A>G	ENST00000225927.2	+	5	1003	c.902A>G	c.(901-903)aAa>aGa	p.K301R	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	301					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)	GAGCTGATCAAAGAGTTTGGC	0.567																																																	0			GRCh37	CD982816	NAGLU	D							131	123	126					17																	40693105		2203	4300	6503	SO:0001583	missense	0				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.902A>G	17.37:g.40693105A>G	ENSP00000225927:p.Lys301Arg			Missense_Mutation	SNP	pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF	p.K301R	ENST00000225927.2	37	c.902	CCDS11427.1	17	.	.	.	.	.	.	.	.	.	.	A	12.46	1.944634	0.34283	.	.	ENSG00000108784	ENST00000225927	D	0.97976	-4.64	5.03	0.147	0.14838	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.392593	0.28156	N	0.016386	D	0.93959	0.8066	L	0.46885	1.475	0.29192	N	0.875805	B	0.11235	0.004	B	0.17098	0.017	D	0.86989	0.2109	10	0.38643	T	0.18	-0.416	5.0077	0.14297	0.5947:0.1463:0.2591:0.0	.	301	P54802	ANAG_HUMAN	R	301	ENSP00000225927:K301R	ENSP00000225927:K301R	K	+	2	0	NAGLU	37946631	1.000000	0.71417	0.259000	0.24435	0.778000	0.44026	2.994000	0.49433	-0.148000	0.11234	0.454000	0.30748	AAA	NAGLU	-	pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF	ENSG00000108784		0.567	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGLU	HGNC	protein_coding	OTTHUMT00000450385.1	-	0	45	0	A	NM_000263		40693105	1	tier1	-	no_errors	ENST00000225927	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.919	G	G	40693105	A	G	40693105	3	3	138	1	0	0	0	0	1	0	0	0	10181	14	1	4	920	4	NAGLU	17	40693105	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	12733502	40693105	40502105	221	35383											
SP6	80320	genome.wustl.edu	37	chr17	45924821	45924821	+	Silent	SNP	G	G	T	0	0	1	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	tgcttggccaggtggtcgctGcgcatgaagacgcggctgca	6	8	16	11	4	0	2	0	1	0	1	1	2	0	2	1	4	3	5	1	4	1	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:45924821G>T	ENST00000536300.1	-	2	1306	c.975C>A	c.(973-975)cgC>cgA	p.R325R	SP6_ENST00000342234.2_Silent_p.R325R	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	325					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						GGTGGTCGCTGCGCATGAAGA	0.692																																																	0													37	35	36					17																	45924821		2203	4300	6503	SO:0001819	synonymous_variant	0				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.975C>A	17.37:g.45924821G>T			B3KXS4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R325	ENST00000536300.1	37	c.975	CCDS11520.1	17																																																																																			SP6	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189120		0.692	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SP6	HGNC	protein_coding	OTTHUMT00000441395.1	-	0	55	0	G	NM_199262		45924821	-1	tier1	-	no_errors	ENST00000342234	ensembl	human	known	74_37	silent	9.52	38	4	SNP	1.000	T	T	45924821	G	T	45924821	2	4	138	1	0	0	0	0	0	0	0	1	15013	1306	46	3		3	SP6	17	45924821	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	5231716	45924821	35270389	222	35384											
SPATA20	64847	genome.wustl.edu	37	chr17	48627597	48627597	+	Missense_Mutation	SNP	A	A	T	1	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	ccgctactccacagaccgccAgtggcacgtccctcactttg	7	8	8	18	3	1	1	1	0	0	1	3	1	3	1	5	1	1	2	5	1	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:48627597A>T	ENST00000356488.4	+	8	1057	c.974A>T	c.(973-975)cAg>cTg	p.Q325L	SPATA20_ENST00000006658.6_Missense_Mutation_p.Q341L|SPATA20_ENST00000393244.3_Missense_Mutation_p.Q281L|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	325					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)			ACAGACCGCCAGTGGCACGTC	0.637											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78	79	78					17																	48627597		2203	4300	6503	SO:0001583	missense	0				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.974A>T	17.37:g.48627597A>T	ENSP00000348878:p.Gln325Leu	119	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold	p.Q341L	ENST00000356488.4	37	c.1022	CCDS58563.1	17	.	.	.	.	.	.	.	.	.	.	A	8.817	0.936651	0.18206	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.30182	1.54;1.54;1.54	5.81	4.74	0.60224	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.389677	0.29537	N	0.011866	T	0.19644	0.0472	L	0.27053	0.805	0.34020	D	0.652498	B;B	0.15141	0.012;0.011	B;B	0.22386	0.036;0.039	T	0.15838	-1.0423	10	0.38643	T	0.18	-23.604	5.5645	0.17163	0.7113:0.1517:0.137:0.0	.	325;341	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	L	341;325;281	ENSP00000006658:Q341L;ENSP00000348878:Q325L;ENSP00000376935:Q281L	ENSP00000006658:Q341L	Q	+	2	0	SPATA20	45982596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.500000	0.53318	2.217000	0.71921	0.533000	0.62120	CAG	SPATA20	-	pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like	ENSG00000006282		0.637	SPATA20-004	KNOWN	basic|CCDS	protein_coding	SPATA20	HGNC	protein_coding	OTTHUMT00000367651.1		0	58	0	A	NM_022827		48627597	1			no_errors	ENST00000006658	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	48627597	A	T	48627597	3	4	138	1	0	0	0	0	1	0	0	0	15053	188	7	5	1056	5	SPATA20	17	48627597	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	2702776	48627597	32567613	223	35385											
SCN4A	6329	genome.wustl.edu	37	chr17	62020234	62020234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaagatgttccagccaaCggtgaagtagtactggcgca	12	8	12	9	2	1	2	1	1	0	1	2	2	2	2	2	2	3	4	2	2	5	3	rs369929462		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:62020234C>T	ENST00000435607.1	-	23	4316	c.4240G>A	c.(4240-4242)Gtt>Att	p.V1414I	SCN4A_ENST00000578147.1_Missense_Mutation_p.V1414I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1414					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)	TTCCAGCCAACGGTGAAGTAG	0.572																																																	0								C	ILE/VAL	0,4404		0,0,2202	137	133	134		4240	-0.5	1	17		134	2,8592	2.2+/-6.3	0,2,4295	no	missense	SCN4A	NM_000334.4	29	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	benign	1414/1837	62020234	2,12996	2202	4297	6499	SO:0001583	missense	0			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.4240G>A	17.37:g.62020234C>T	ENSP00000396320:p.Val1414Ile		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.V1414I	ENST00000435607.1	37	c.4240	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	C	2.943	-0.218558	0.06101	0.0	2.33E-4	ENSG00000007314	ENST00000435607	D	0.98381	-4.9	3.86	-0.502	0.12004	Ion transport (1);	0.361157	0.26840	N	0.022231	D	0.90635	0.7063	N	0.04746	-0.17	0.24917	N	0.992009	B	0.02656	0.0	B	0.08055	0.003	T	0.81970	-0.0689	10	0.02654	T	1	.	9.0864	0.36584	0.0:0.4951:0.0:0.5049	.	1414	P35499	SCN4A_HUMAN	I	1414	ENSP00000396320:V1414I	ENSP00000396320:V1414I	V	-	1	0	SCN4A	59373966	0.383000	0.25156	0.990000	0.47175	0.969000	0.65631	-0.009000	0.12765	-0.144000	0.11314	0.455000	0.32223	GTT	SCN4A	-	pfam_Ion_trans_dom	ENSG00000007314		0.572	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding			0	44	0	C	NM_000334		62020234	-1			no_errors	ENST00000435607	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.977	T	T	62020234	C	T	62020234	3	4	138	1	0	0	0	0	1	0	0	0	13965	536	19	1	1278	1	SCN4A	17	62020234	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	13392637	62020234	19174976	224	35386											
ABCA5	23461	genome.wustl.edu	37	chr17	67250503	67250503	+	Silent	SNP	T	T	C	0	1	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	gcactcattcctttgacagcTccataaatttcaaaatgttc	12	14	4	11	0	2	1	2	1	0	0	5	1	4	1	2	0	1	3	2	0	4	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:67250503T>C	ENST00000392676.3	-	32	4261	c.4197A>G	c.(4195-4197)ggA>ggG	p.G1399G	ABCA5_ENST00000392677.2_Silent_p.G1400G|ABCA5_ENST00000588877.1_Silent_p.G1399G			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1399	ABC transporter 2. {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)	CTTTGACAGCTCCATAAATTT	0.368																																																	0													142	138	139					17																	67250503		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4197A>G	17.37:g.67250503T>C			Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G1400	ENST00000392676.3	37	c.4200	CCDS11685.1	17																																																																																			ABCA5	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154265		0.368	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1		0	33	0	T	NM_018672		67250503	-1			no_errors	ENST00000392677	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	C	C	67250503	T	C	67250503	2	2	138	1	0	0	0	0	0	0	0	1	35	1538	54	4		4	ABCA5	17	67250503	Silent	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	5230269	67250503	13944707	225	35387											
GRIN2C	2905	genome.wustl.edu	37	chr17	72846347	72846347	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtggggtggggcctacctCcccaatcatgccgttccata	7	9	12	13	1	1	0	1	0	0	0	3	1	3	0	6	4	2	1	6	4	3	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:72846347C>A	ENST00000293190.5	-	6	1635	c.1489G>T	c.(1489-1491)Gag>Tag	p.E497*	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Nonsense_Mutation_p.E497*	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	497					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGCCTACCTCCCCAATCATG	0.647																																																	0													82	67	72					17																	72846347		2203	4300	6503	SO:0001587	stop_gained	0				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1489G>T	17.37:g.72846347C>A	ENSP00000293190:p.Glu497*		B2RTT1	Nonsense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E497*	ENST00000293190.5	37	c.1489	CCDS32724.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.755019	0.98471	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.369	0.87371	0.0:1.0:0.0:0.0	.	.	.	.	X	497;531	.	ENSP00000293190:E497X	E	-	1	0	GRIN2C	70357942	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.522000	0.81844	2.484000	0.83849	0.491000	0.48974	GAG	GRIN2C	-	pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	ENSG00000161509		0.647	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	-	0	72	0	C			72846347	-1	tier1	-	no_errors	ENST00000293190	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	A	A	72846347	C	A	72846347	4	1	138	1	0	0	0	0	0	1	0	0	6808	864	30	3	2244	3	GRIN2C	17	72846347	Nonsense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	5595844	72846347	8348863	226	35388											
TNRC6C	57690	genome.wustl.edu	37	chr17	76063908	76063908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtaccagccagtgggaGgatgaagaaggggacgtgtg	11	6	17	7	1	1	2	1	1	0	1	1	5	1	5	2	4	2	1	2	4	3	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr17:76063908G>C	ENST00000588061.1	+	7	3409	c.2682G>C	c.(2680-2682)gaG>gaC	p.E894D	TNRC6C_ENST00000541771.1_Missense_Mutation_p.E894D|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000588847.1_Missense_Mutation_p.E891D|TNRC6C_ENST00000335749.4_Missense_Mutation_p.E891D|TNRC6C_ENST00000301624.4_Missense_Mutation_p.E894D|TNRC6C_ENST00000544502.1_Missense_Mutation_p.E891D			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	894	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)			GCCAGTGGGAGGATGAAGAAG	0.493																																																	0													142	144	143					17																	76063908		1959	4151	6110	SO:0001583	missense	0			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.2682G>C	17.37:g.76063908G>C	ENSP00000468647:p.Glu894Asp		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E891D	ENST00000588061.1	37	c.2673	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930072	0.52759	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.84	-3.47	0.04753	Argonaute hook domain (1);	0.093317	0.64402	N	0.000001	T	0.31513	0.0799	L	0.43598	1.365	0.48571	D	0.999677	B;B;B	0.23377	0.084;0.082;0.001	B;B;B	0.26614	0.071;0.054;0.01	T	0.03000	-1.1084	10	0.26408	T	0.33	-13.8866	7.3418	0.26641	0.327:0.235:0.4379:0.0	.	891;894;894	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	D	894;891;891;894;894;891	ENSP00000336783:E891D;ENSP00000301624:E894D;ENSP00000440310:E894D;ENSP00000442421:E891D	ENSP00000301624:E894D	E	+	3	2	TNRC6C	73575503	0.987000	0.35691	0.960000	0.40013	0.998000	0.95712	0.252000	0.18278	-0.483000	0.06772	0.591000	0.81541	GAG	TNRC6C	-	pfam_Argonaute_hook_dom	ENSG00000078687		0.493	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	-	0	23	0	G	NM_018996		76063908	1	tier1	-	no_errors	ENST00000335749	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.852	C	C	76063908	G	C	76063908	3	2	138	1	0	0	0	0	1	0	0	0	16389	991	35	5	2692	5	TNRC6C	17	76063908	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	3217561	76063908	5131302	227	35389											
EPB41L3	23136	genome.wustl.edu	37	chr18	5406797	5406797	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcagggacaagtggttcGatcatgggggcatcctcctg	7	11	13	10	1	3	0	2	0	1	0	6	2	5	1	2	4	0	2	2	4	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr18:5406797G>A	ENST00000341928.2	-	16	2668	c.2328C>T	c.(2326-2328)atC>atT	p.I776I	EPB41L3_ENST00000342933.3_Silent_p.I776I|EPB41L3_ENST00000400111.3_Silent_p.I595I|EPB41L3_ENST00000427684.2_Silent_p.I48I|EPB41L3_ENST00000544123.1_Silent_p.I607I|EPB41L3_ENST00000540638.2_Silent_p.I595I|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Silent_p.I48I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	776	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAAGTGGTTCGATCATGGGGG	0.532																																																	0													105	88	94					18																	5406797		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2328C>T	18.37:g.5406797G>A			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.I776	ENST00000341928.2	37	c.2328	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1		0	77	0	G	NM_012307		5406797	-1			no_errors	ENST00000341928	ensembl	human	known	74_37	silent	7.69	71	6	SNP	0.615	A	A	5406797	G	A	5406797	2	1	138	1	0	0	0	0	0	0	0	1	5170	1048	37	1		1	EPB41L3	18	5406797	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09		5406797	72670451	228	35390											
LAMA1	284217	genome.wustl.edu	37	chr18	6986337	6986337	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatttgtgacaataaatcTtcagcagccctgataaatat	15	13	6	7	0	2	3	1	3	1	0	2	3	2	3	1	0	2	1	1	0	7	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr18:6986337T>G	ENST00000389658.3	-	37	5271	c.5178A>C	c.(5176-5178)gaA>gaC	p.E1726D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1726	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)				ACAATAAATCTTCAGCAGCCC	0.353																																																	0													61	60	61					18																	6986337		2203	4300	6503	SO:0001583	missense	0			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.5178A>C	18.37:g.6986337T>G	ENSP00000374309:p.Glu1726Asp			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E1726D	ENST00000389658.3	37	c.5178	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	t	13.64	2.296260	0.40594	.	.	ENSG00000101680	ENST00000389658	T	0.10960	2.82	5.8	2.17	0.27698	Laminin I (1);	0.258238	0.37809	N	0.001923	T	0.15176	0.0366	L	0.53249	1.67	0.23156	N	0.998202	P	0.48834	0.916	P	0.49085	0.6	T	0.04885	-1.0920	10	0.48119	T	0.1	.	9.598	0.39587	0.0:0.2607:0.0:0.7393	.	1726	P25391	LAMA1_HUMAN	D	1726	ENSP00000374309:E1726D	ENSP00000374309:E1726D	E	-	3	2	LAMA1	6976337	0.768000	0.28519	0.601000	0.28877	0.354000	0.29330	0.748000	0.26305	0.473000	0.27368	-0.256000	0.11100	GAA	LAMA1	-	pfam_Laminin_I	ENSG00000101680		0.353	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	88	0	T	NM_005559		6986337	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	46.00	27	23	SNP	0.368	G	G	6986337	T	G	6986337	3	3	138	1	0	0	0	0	1	0	0	0	8633	1606	56	4	4157	4	LAMA1	18	6986337	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	1579540	6986337	71090911	229	35391											
KIAA0802	23255	genome.wustl.edu	37	chr18	8793058	8793058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggagctacagggtcagctCgtgcaggcggccagactgca	9	5	16	11	2	1	1	1	0	0	1	2	3	1	2	1	4	5	4	1	4	1	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr18:8793058C>T	ENST00000359865.3	+	8	2092	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2												p.L650L(1)									AGGGTCAGCTCGTGCAGGCGG	0.498																																																	1	Substitution - coding silent(1)	large_intestine(1)											100	111	107					18																	8793058		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000359865.3:c.1950C>T	18.37:g.8793058C>T				Silent	SNP	pfam_SOGA	p.L650	ENST00000359865.3	37	c.1950	CCDS11841.1	18																																																																																			SOGA2	-	NULL	ENSG00000168502		0.498	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000254476.1		0	22	0	C			8793058	1			no_errors	ENST00000359865	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.060	T	T	8793058	C	T	8793058	2	4	138	1	0	0	0	0	0	0	0	1	8221	871	31	1		1	KIAA0802	18	8793058	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1806721	8793058	69284190	230	35392											
FAM38B	63895	genome.wustl.edu	37	chr18	10682197	10682197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacatgaagagaagaggaaaCcagacaatgcagatgagcag	19	3	13	6	0	0	6	0	2	0	4	0	9	0	7	1	1	3	2	1	1	4	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr18:10682197C>G	ENST00000503781.3	-	46	7250	c.7251G>C	c.(7249-7251)tgG>tgC	p.W2417C	PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000538948.1_Missense_Mutation_p.W374C|PIEZO2_ENST00000580640.1_Missense_Mutation_p.W2442C|PIEZO2_ENST00000285141.4_Intron|PIEZO2_ENST00000302079.6_Intron	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2417					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)										GAAGAGGAAACCAGACAATGC	0.512																																																	0													234	221	225					18																	10682197		692	1591	2283	SO:0001583	missense	0			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.7251G>C	18.37:g.10682197C>G	ENSP00000421377:p.Trp2417Cys		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	pfam_Piezo	p.W374C	ENST00000503781.3	37	c.1122		18	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088769	0.76756	.	.	ENSG00000154864	ENST00000302079;ENST00000538948	T	0.73152	-0.72	4.96	4.96	0.65561	.	.	.	.	.	D	0.85952	0.5817	M	0.87971	2.92	0.80722	D	1	.	.	.	.	.	.	D	0.88706	0.3219	7	0.87932	D	0	.	18.5603	0.91097	0.0:1.0:0.0:0.0	.	.	.	.	C	2417;374	ENSP00000443129:W374C	ENSP00000303316:W2417C	W	-	3	0	FAM38B	10672197	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.411000	0.80078	2.455000	0.83008	0.563000	0.77884	TGG	PIEZO2	-	pfam_Piezo	ENSG00000154864		0.512	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4		0	47	0	C	NM_022068		10682197	-1			no_errors	ENST00000538948	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	G	G	10682197	C	G	10682197	3	3	138	1	0	0	0	0	1	0	0	0	5577	508	18	5	1035	5	FAM38B	18	10682197	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1889139	10682197	67395051	231	35393											
ZNF521	25925	genome.wustl.edu	37	chr18	22804397	22804397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgtctggcacgagctctCggtggatggtttggatgtgg	4	13	17	7	2	2	0	0	0	2	0	3	3	2	2	0	6	2	4	0	6	0	1	rs146072050		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr18:22804397C>T	ENST00000361524.3	-	4	3633	c.3485G>A	c.(3484-3486)cGa>cAa	p.R1162Q	ZNF521_ENST00000584787.1_Missense_Mutation_p.R942Q|ZNF521_ENST00000538137.2_Missense_Mutation_p.R1162Q	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1162					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.R1162L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACGAGCTCTCGGTGGATGGT	0.532			T	PAX5	ALL								C|||	1	0.000199681	8e-04	0	5008	,	,		19500	0		0	False		,,,				2504	0							Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - Missense(1)	lung(1)						C	GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	167	151	157		3485	6	1	18	dbSNP_134	157	0,8600		0,0,4300	yes	missense	ZNF521	NM_015461.2	43	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	1162/1312	22804397	5,13001	2203	4300	6503	SO:0001583	missense	0			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.3485G>A	18.37:g.22804397C>T	ENSP00000354794:p.Arg1162Gln		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1162Q	ENST00000361524.3	37	c.3485	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633548	0.47049	0.001135	0.0	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09350	3.06;2.99	5.98	5.98	0.97165	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.11410	0.0278	N	0.24115	0.695	0.43835	D	0.996417	P	0.52692	0.955	B	0.43082	0.407	T	0.04360	-1.0957	10	0.37606	T	0.19	-14.8633	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1162	Q96K83	ZN521_HUMAN	Q	1162;1196;1162	ENSP00000354794:R1162Q;ENSP00000382352:R1162Q	ENSP00000354794:R1162Q	R	-	2	0	ZNF521	21058395	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	5.713000	0.68415	2.835000	0.97688	0.650000	0.86243	CGA	ZNF521	-	pfscan_Znf_C2H2	ENSG00000198795		0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	36	0	C	NM_015461		22804397	-1	tier1	rs146072050	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	33.33	30	15	SNP	1.000	T	T	22804397	C	T	22804397	3	4	138	1	0	0	0	0	1	0	0	0	18013	884	31	1	470	1	ZNF521	18	22804397	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	12122200	22804397	55272851	232	35394											
PSTPIP2	9050	genome.wustl.edu	37	chr18	43572095	43572095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggaatctgtccagttttgCgttgattcacaaagtattca	10	15	9	7	1	3	1	2	1	1	0	4	2	4	2	1	1	1	3	1	1	3	6			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr18:43572095C>T	ENST00000409746.5	-	11	886	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSTPIP2_ENST00000589328.1_Intron|PSTPIP2_ENST00000588801.1_Intron|RN7SKP26_ENST00000410247.1_RNA	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	272						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TCCAGTTTTGCGTTGATTCAC	0.388																																																	0													79	75	77					18																	43572095		1568	3582	5150	SO:0001583	missense	0				CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.815G>A	18.37:g.43572095C>T	ENSP00000387261:p.Arg272His			Missense_Mutation	SNP	pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.R272H	ENST00000409746.5	37	c.815	CCDS32820.2	18	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368201	0.42003	.	.	ENSG00000152229	ENST00000409746	T	0.39592	1.07	5.51	3.73	0.42828	.	0.112192	0.64402	N	0.000016	T	0.28797	0.0714	L	0.38838	1.175	0.27828	N	0.941545	B	0.18166	0.026	B	0.14023	0.01	T	0.17899	-1.0354	10	0.17369	T	0.5	.	8.6954	0.34293	0.0:0.7638:0.0:0.2362	.	272	Q9H939	PPIP2_HUMAN	H	272	ENSP00000387261:R272H	ENSP00000387261:R272H	R	-	2	0	PSTPIP2	41826093	0.595000	0.26857	0.942000	0.38095	0.946000	0.59487	1.538000	0.36094	0.820000	0.34516	0.579000	0.79373	CGC	PSTPIP2	-	NULL	ENSG00000152229		0.388	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSTPIP2	HGNC	protein_coding	OTTHUMT00000327522.1	-	0	84	0	C			43572095	-1	tier1	-	no_errors	ENST00000409746	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.967	T	T	43572095	C	T	43572095	3	4	138	1	0	0	0	0	1	0	0	0	12764	768	27	1	205	1	PSTPIP2	18	43572095	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	20767698	43572095	34505153	233	35395											
DCC	1630	genome.wustl.edu	37	chr18	50976903	50976903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaaatgcaccccccgcatgGcagtgtcactcctcagaaga	12	6	8	15	1	2	2	2	0	0	2	3	2	3	2	4	1	1	3	4	1	2	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr18:50976903G>A	ENST00000442544.2	+	23	3879	c.3263G>A	c.(3262-3264)gGc>gAc	p.G1088D	DCC_ENST00000581580.1_Missense_Mutation_p.G723D	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1088					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)		CCCCCGCATGGCAGTGTCACT	0.502																																																	0													117	96	103					18																	50976903		2203	4300	6503	SO:0001583	missense	0			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.3263G>A	18.37:g.50976903G>A	ENSP00000389140:p.Gly1088Asp			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1088D	ENST00000442544.2	37	c.3263	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382306	0.24944	.	.	ENSG00000187323	ENST00000442544	T	0.51325	0.71	5.35	5.35	0.76521	.	0.065999	0.64402	D	0.000015	T	0.58438	0.2122	L	0.59436	1.845	0.52099	D	0.99994	D	0.59357	0.985	P	0.53518	0.728	T	0.56848	-0.7911	10	0.39692	T	0.17	-9.4362	17.8642	0.88791	0.0:0.0:1.0:0.0	.	1088	P43146	DCC_HUMAN	D	1088	ENSP00000389140:G1088D	ENSP00000389140:G1088D	G	+	2	0	DCC	49230901	1.000000	0.71417	0.998000	0.56505	0.123000	0.20343	9.070000	0.93974	2.512000	0.84698	0.650000	0.86243	GGC	DCC	-	pfam_Neogenin_C	ENSG00000187323		0.502	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	83	0	G	NM_005215		50976903	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	9.52	56	6	SNP	1.000	A	A	50976903	G	A	50976903	3	1	138	1	0	0	0	0	1	0	0	0	4291	1203	42	3	3353	3	DCC	18	50976903	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	7404808	50976903	27100345	234	35396											
LMNB2	84823	genome.wustl.edu	37	chr19	2431820	2431820	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacggtgcggaagctctcGcccgtgccccagctgctctg	5	7	14	15	4	2	0	0	0	2	0	3	2	2	2	3	3	5	3	3	3	1	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:2431820G>A	ENST00000582871.1	-	10	1697	c.1611C>T	c.(1609-1611)ggC>ggT	p.G537G	LMNB2_ENST00000475819.1_5'UTR|LMNB2_ENST00000325327.3_Silent_p.G557G	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	537	LTD.|Tail.					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)		GGAAGCTCTCGCCCGTGCCCC	0.687																																																	0													57	49	52					19																	2431820		2200	4298	6498	SO:0001819	synonymous_variant	0			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.1611C>T	19.37:g.2431820G>A			O75292|Q14734|Q96DF6	Silent	SNP	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.G557	ENST00000582871.1	37	c.1671		19																																																																																			LMNB2	-	pfam_Lamin_tail_dom	ENSG00000176619		0.687	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding		-	0	54	0	G	NM_032737		2431820	-1	tier1	-	no_errors	ENST00000325327	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.035	A	A	2431820	G	A	2431820	2	1	138	1	0	0	0	0	0	0	0	1	8880	1074	38	1		1	LMNB2	19	2431820	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09		2431820	56697163	235	35397											
ACTL9	284382	genome.wustl.edu	37	chr19	8807881	8807881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaggactggaaggcgcGcagggaggccaggatggagc	10	2	19	10	2	0	0	0	0	0	0	0	5	0	5	2	7	2	2	2	7	1	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:8807881G>A	ENST00000324436.3	-	1	1291	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	391						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R391C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGGAAGGCGCGCAGGGAGGCC	0.652																																																	1	Substitution - Missense(1)	large_intestine(1)											37	39	38					19																	8807881		2203	4299	6502	SO:0001583	missense	0				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1171C>T	19.37:g.8807881G>A	ENSP00000316674:p.Arg391Cys		A8K893|Q6X960	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R391C	ENST00000324436.3	37	c.1171	CCDS12207.1	19	.	.	.	.	.	.	.	.	.	.	g	10.61	1.399657	0.25291	.	.	ENSG00000181786	ENST00000324436	T	0.08193	3.12	4.51	2.23	0.28157	.	0.317190	0.22565	N	0.058402	T	0.12220	0.0297	L	0.29908	0.895	0.35755	D	0.81972	D	0.76494	0.999	P	0.60886	0.88	T	0.17684	-1.0361	10	0.87932	D	0	.	6.1475	0.20293	0.0884:0.0:0.5749:0.3367	.	391	Q8TC94	ACTL9_HUMAN	C	391	ENSP00000316674:R391C	ENSP00000316674:R391C	R	-	1	0	ACTL9	8668881	0.013000	0.17824	0.431000	0.26735	0.759000	0.43091	0.742000	0.26216	0.564000	0.29238	0.457000	0.33378	CGC	ACTL9	-	pfam_Actin-related,smart_Actin-related	ENSG00000181786		0.652	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	HGNC	protein_coding	OTTHUMT00000459953.1	-	0	50	0	G	NM_178525		8807881	-1	tier1	-	no_errors	ENST00000324436	ensembl	human	known	74_37	missense	40.35	34	23	SNP	0.994	A	A	8807881	G	A	8807881	3	1	138	1	0	0	0	0	1	0	0	0	203	1087	38	1	83	1	ACTL9	19	8807881	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	6376061	8807881	50321102	236	35398											
ICAM3	3385	genome.wustl.edu	37	chr19	10446014	10446014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggggccacgaggcgcgggGgggtcacgggcaggactggg	5	2	25	9	4	1	0	1	0	0	0	1	2	1	1	1	10	0	1	1	10	0	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:10446014G>A	ENST00000160262.5	-	4	873	c.665C>T	c.(664-666)cCc>cTc	p.P222L	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.P145L	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	222					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GAGGCGCGGGGGGGTCACGGG	0.647																																																	0													9	11	11					19																	10446014		2149	4175	6324	SO:0001583	missense	0				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.665C>T	19.37:g.10446014G>A	ENSP00000160262:p.Pro222Leu		Q6PD68	Missense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.P222L	ENST00000160262.5	37	c.665	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216969	0.39201	.	.	ENSG00000076662	ENST00000160262	T	0.03468	3.92	5.06	1.64	0.23874	Immunoglobulin-like fold (1);	0.978321	0.08344	N	0.960300	T	0.04497	0.0123	L	0.34521	1.04	0.09310	N	1	B	0.30114	0.269	B	0.37650	0.255	T	0.47736	-0.9094	10	0.49607	T	0.09	-8.5172	4.7046	0.12844	0.1969:0.1817:0.6214:0.0	.	222	P32942	ICAM3_HUMAN	L	222	ENSP00000160262:P222L	ENSP00000160262:P222L	P	-	2	0	ICAM3	10307014	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.190000	0.17057	0.602000	0.29896	-0.379000	0.06801	CCC	ICAM3	-	NULL	ENSG00000076662		0.647	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	HGNC	protein_coding	OTTHUMT00000451234.1	-	0	80	0	G			10446014	-1	tier1	-	no_errors	ENST00000160262	ensembl	human	known	74_37	missense	9.52	57	6	SNP	0.000	A	A	10446014	G	A	10446014	3	1	138	1	0	0	0	0	1	0	0	0	7508	1232	43	3	994	3	ICAM3	19	10446014	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	1638133	10446014	48682969	237	35399											
ZNF823	55552	genome.wustl.edu	37	chr19	11833223	11833223	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgttatcatgtgacttcGaaagctcgagctatgagata	11	13	11	6	2	1	2	1	2	0	1	3	5	1	2	0	0	2	3	0	0	4	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:11833223G>A	ENST00000341191.6	-	4	1279	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	ZNF823_ENST00000545749.1_Nonsense_Mutation_p.R194*	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	376					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						ATGTGACTTCGAAAGCTCGAG	0.423										HNSCC(68;0.2)																																							0													107	112	110					19																	11833223		2203	4300	6503	SO:0001587	stop_gained	0			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.1126C>T	19.37:g.11833223G>A	ENSP00000340683:p.Arg376*		A0PJL4|B7Z8D4|Q6P4A9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R376*	ENST00000341191.6	37	c.1126	CCDS45981.1	19	.	.	.	.	.	.	.	.	.	.	N	39	7.624046	0.98396	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	.	.	.	0.632	0.632	0.17705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	7.1241	0.25461	1.0E-4:0.0:0.9999:0.0	.	.	.	.	X	194;376;332	.	ENSP00000340683:R376X	R	-	1	2	ZNF823	11694223	0.000000	0.05858	0.005000	0.12908	0.793000	0.44817	0.502000	0.22594	0.618000	0.30179	0.298000	0.19748	CGA	ZNF823	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197933		0.423	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF823	HGNC	protein_coding	OTTHUMT00000344516.2	-	0	111	0	G	NM_001080493		11833223	-1	tier1	-	no_errors	ENST00000341191	ensembl	human	known	74_37	nonsense	19.39	77	19	SNP	0.001	A	A	11833223	G	A	11833223	4	1	138	1	0	0	0	0	0	1	0	0	18227	1066	37	1	710	1	ZNF823	19	11833223	Nonsense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	1387209	11833223	47295760	238	35400											
ZNF439	90594	genome.wustl.edu	37	chr19	11978920	11978920	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagttttcaaacacacataAgaatgcactctggagaaaga	18	8	7	8	0	2	3	1	0	1	3	2	4	2	3	0	1	2	2	0	1	5	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:11978920A>C	ENST00000304030.2	+	3	1236	c.1036A>C	c.(1036-1038)Aga>Cga	p.R346R	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Silent_p.R210R	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						AACACACATAAGAATGCACTC	0.378																																																	0													92	93	92					19																	11978920		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1036A>C	19.37:g.11978920A>C			Q8IYZ7|Q96SU1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R346	ENST00000304030.2	37	c.1036	CCDS12268.1	19																																																																																			ZNF439	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171291		0.378	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	-	0	80	0	A			11978920	1	tier1	-	no_errors	ENST00000304030	ensembl	human	known	74_37	silent	17.74	51	11	SNP	0.027	C	C	11978920	A	C	11978920	2	2	138	1	0	0	0	0	0	0	0	1	17959	64	3	4		4	ZNF439	19	11978920	Silent	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	145697	11978920	47150063	239	35401											
ZNF44	51710	genome.wustl.edu	37	chr19	12384613	12384613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatgtttgaaaggagtggcGataacttaagcctttcccac	12	11	9	9	1	0	1	0	1	0	0	1	3	1	2	2	2	2	1	2	2	3	4	rs375321557	byFrequency	TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:12384613G>A	ENST00000356109.5	-	5	719	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	ZNF44_ENST00000355684.5_Missense_Mutation_p.R153C	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AAGGAGTGGCGATAACTTAAG	0.428													G|||	2	0.000399361	0	0	5008	,	,		21613	0		0	False		,,,				2504	0.002																0								G	CYS/ARG,CYS/ARG	0,4398		0,0,2199	109	110	110		601,457	0.6	0	19		110	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	ZNF44	NM_001164276.1,NM_016264.3	180,180	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	201/664,153/616	12384613	1,12991	2199	4297	6496	SO:0001583	missense	0			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"Zinc fingers, C2H2-type", "-"	13110	protein-coding gene	gene with protein product		194542	"zinc finger protein 58", "zinc finger protein 44 (KOX 7)", "zinc finger protein 55"	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.601C>T	19.37:g.12384613G>A	ENSP00000348419:p.Arg201Cys		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R201C	ENST00000356109.5	37	c.601	CCDS54223.1	19	.	.	.	.	.	.	.	.	.	.	G	3.671	-0.067512	0.07273	0.0	1.16E-4	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.29917	1.55;1.55;3.2	0.645	0.645	0.17782	Zinc finger, C2H2 (1);	.	.	.	.	T	0.25269	0.0614	L	0.48362	1.52	.	.	.	B;P	0.47962	0.001;0.903	B;P	0.45138	0.001;0.471	T	0.24657	-1.0154	8	0.36615	T	0.2	.	3.6996	0.08378	0.0:0.0:0.5685:0.4315	.	201;153	P15621;F8W7T7	ZNF44_HUMAN;.	C	201;201;153;153	ENSP00000377008:R201C;ENSP00000348419:R201C;ENSP00000347910:R153C	ENSP00000347910:R153C	R	-	1	0	ZNF44	12245613	0.001000	0.12720	0.019000	0.16419	0.037000	0.13140	-0.304000	0.08199	0.641000	0.30601	0.205000	0.17691	CGC	ZNF44	-	pfscan_Znf_C2H2	ENSG00000197857		0.428	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF44	HGNC	protein_coding	OTTHUMT00000344132.1	-	0	115	0	G	NM_016264		12384613	-1	tier1	-	no_errors	ENST00000393337	ensembl	human	known	74_37	missense	8.87	113	11	SNP	0.004	A	A	12384613	G	A	12384613	3	1	138	1	0	0	0	0	1	0	0	0	17960	1058	37	1	1394	1	ZNF44	19	12384613	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	405693	12384613	46744370	240	35402											
CALR3	125972	genome.wustl.edu	37	chr19	16606868	16606868	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctccgtctagaaattcctCttggaaatagacggtagcca	12	10	8	11	2	2	2	0	0	2	2	4	3	4	3	4	2	1	1	4	2	5	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:16606868C>G	ENST00000269881.3	-	1	135	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	C19orf44_ENST00000594035.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000221671.3_5'Flank	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	25	N-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						AGAAATTCCTCTTGGAAATAG	0.652																																																	0													17	19	18					19																	16606868		2202	4296	6498	SO:0001583	missense	0			AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"cancer/testis antigen 93", "calsperin"	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.73G>C	19.37:g.16606868C>G	ENSP00000269881:p.Glu25Gln		D9N574|Q96LN3	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex	p.E25Q	ENST00000269881.3	37	c.73	CCDS12344.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.219545	0.95139	.	.	ENSG00000141979	ENST00000269881	T	0.60171	0.21	5.39	5.39	0.77823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	H	0.95114	3.625	0.51012	D	0.999908	D	0.89917	1.0	D	0.97110	1.0	D	0.87864	0.2666	10	0.72032	D	0.01	-18.4243	15.8758	0.79159	0.0:1.0:0.0:0.0	.	25	Q96L12	CALR3_HUMAN	Q	25	ENSP00000269881:E25Q	ENSP00000269881:E25Q	E	-	1	0	CALR3	16467868	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.591000	0.67536	2.527000	0.85204	0.549000	0.68633	GAG	CALR3	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin	ENSG00000269058		0.652	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR3	HGNC	protein_coding	OTTHUMT00000461089.1	-	0	87	0	C	NM_145046		16606868	-1	tier1	-	no_errors	ENST00000269881	ensembl	human	known	74_37	missense	19.15	76	18	SNP	1.000	G	G	16606868	C	G	16606868	3	3	138	1	0	0	0	0	1	0	0	0	2600	922	32	5	1117	5	CALR3	19	16606868	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	4222255	16606868	42522115	241	35403											
POP4	10775	genome.wustl.edu	37	chr19	30101337	30101337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcaggagcacagcgggccGaggccttcgtgagggccttc	6	7	15	13	3	1	1	1	1	0	0	3	3	1	2	3	4	2	1	3	4	0	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:30101337G>A	ENST00000585603.1	+	3	2384	c.82G>A	c.(82-84)Gag>Aag	p.E28K	POP4_ENST00000392279.3_Intron|POP4_ENST00000221770.3_Intron|POP4_ENST00000591824.1_3'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	28					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			ACAGCGGGCCGAGGCCTTCGT	0.706											OREG0025393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(89;1165 1449 14085 34436 43672)												0													9	10	10					19																	30101337		2184	4271	6455	SO:0001583	missense	0			BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.82G>A	19.37:g.30101337G>A	ENSP00000465213:p.Glu28Lys	814	Q5XKL7|Q6FHW9|Q9UQQ3	Missense_Mutation	SNP	pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit	p.E28K	ENST00000585603.1	37	c.82	CCDS12416.1	19	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262888	0.39995	.	.	ENSG00000105171	ENST00000221770	.	.	.	5.55	5.55	0.83447	.	0.199015	0.51477	D	0.000088	T	0.53126	0.1777	L	0.49350	1.555	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.45264	-0.9273	9	0.15066	T	0.55	-32.4252	12.1814	0.54214	0.087:0.0:0.913:0.0	.	28	O95707	RPP29_HUMAN	K	28	.	ENSP00000221770:E28K	E	+	1	0	POP4	34793177	1.000000	0.71417	0.991000	0.47740	0.616000	0.37450	4.385000	0.59613	2.773000	0.95371	0.585000	0.79938	GAG	POP4	-	pirsf_RNase_P/MRP_p29-subunit	ENSG00000105171		0.706	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP4	HGNC	protein_coding	OTTHUMT00000458710.1		0	19	0	G	NM_006627		30101337	1			no_errors	ENST00000585603	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.994	A	A	30101337	G	A	30101337	3	1	138	1	0	0	0	0	1	0	0	0	12291	1059	37	1	92	1	POP4	19	30101337	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	13494469	30101337	29027646	242	35404											
ZNF536	9745	genome.wustl.edu	37	chr19	31038964	31038964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacggggctgggccgctgtCtgggcaacccccaaatcaag	9	5	14	13	2	2	0	1	0	1	0	2	1	2	0	3	4	2	3	3	4	4	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:31038964C>T	ENST00000355537.3	+	4	2585	c.2438C>T	c.(2437-2439)tCt>tTt	p.S813F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	813					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)					GGGCCGCTGTCTGGGCAACCC	0.567																																																	0													68	75	73					19																	31038964		2203	4300	6503	SO:0001583	missense	0				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.2438C>T	19.37:g.31038964C>T	ENSP00000347730:p.Ser813Phe		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S813F	ENST00000355537.3	37	c.2438	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	13.35	2.212306	0.39102	.	.	ENSG00000198597	ENST00000355537	T	0.10382	2.88	5.98	5.98	0.97165	.	0.103678	0.64402	D	0.000002	T	0.14743	0.0356	L	0.29908	0.895	0.50039	D	0.999844	D;D	0.53885	0.963;0.963	P;P	0.46585	0.521;0.521	T	0.00324	-1.1817	10	0.56958	D	0.05	-4.8845	20.4366	0.99092	0.0:1.0:0.0:0.0	.	813;813	A7E228;O15090	.;ZN536_HUMAN	F	813	ENSP00000347730:S813F	ENSP00000347730:S813F	S	+	2	0	ZNF536	35730804	1.000000	0.71417	0.586000	0.28679	0.045000	0.14185	7.455000	0.80726	2.837000	0.97791	0.591000	0.81541	TCT	ZNF536	-	NULL	ENSG00000198597		0.567	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0	40	0	C	NM_014717		31038964	1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	T	T	31038964	C	T	31038964	3	4	138	1	0	0	0	0	1	0	0	0	18022	913	32	3	2448	3	ZNF536	19	31038964	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	937627	31038964	28090019	243	35405											
SIPA1L3	23094	genome.wustl.edu	37	chr19	38652939	38652939	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctctcagccatagcCggaagcagcgggaacaagca	12	3	13	13	2	1	0	1	0	1	0	2	2	1	2	3	3	6	3	3	3	4	1	rs542753643		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:38652939C>T	ENST00000222345.6	+	14	4217	c.3708C>T	c.(3706-3708)gcC>gcT	p.A1236A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1236					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCCATAGCCGGAAGCAGCG	0.607													C|||	0	0	0	0	5008	,	,		18269	0		0	False		,,,				2504	0																0													88	77	81					19																	38652939		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3708C>T	19.37:g.38652939C>T			Q2TV87	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.A1236	ENST00000222345.6	37	c.3708	CCDS33007.1	19																																																																																			SIPA1L3	-	NULL	ENSG00000105738		0.607	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	-	0	36	0	C	XM_032278		38652939	1	tier1	-	no_errors	ENST00000222345	ensembl	human	known	74_37	silent	23.53	39	12	SNP	0.013	T	T	38652939	C	T	38652939	2	4	138	1	0	0	0	0	0	0	0	1	14376	639	23	1		1	SIPA1L3	19	38652939	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	7613975	38652939	20476044	244	35406											
SERTAD3	29946	genome.wustl.edu	37	chr19	40947484	40947484	+	Silent	SNP	T	T	C	0	1	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	aagaggttgtgaggaggctcTggtggggcccgtgcaggctc	6	8	19	8	1	1	2	0	1	1	1	2	3	1	3	1	7	1	4	1	7	1	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:40947484T>C	ENST00000322354.3	-	2	1000	c.504A>G	c.(502-504)ccA>ccG	p.P168P	SERTAD3_ENST00000392028.4_Silent_p.P168P|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000601217.1_5'Flank	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	168					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGAGGCTCTGGTGGGGCCC	0.532																																																	0													84	91	89					19																	40947484		2203	4300	6503	SO:0001819	synonymous_variant	0			AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"RPA-binding trans-activator"	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.504A>G	19.37:g.40947484T>C			B3KQB3|Q96CQ2	Silent	SNP	pfam_SERTA,pfscan_SERTA	p.P168	ENST00000322354.3	37	c.504	CCDS12558.1	19																																																																																			SERTAD3	-	NULL	ENSG00000167565		0.532	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SERTAD3	HGNC	protein_coding	OTTHUMT00000462573.1	-	0	38	0	T	NM_013368		40947484	-1	tier1	-	no_errors	ENST00000322354	ensembl	human	known	74_37	silent	26.47	25	9	SNP	0.000	C	C	40947484	T	C	40947484	2	2	138	1	0	0	0	0	0	0	0	1	14167	1567	55	4		4	SERTAD3	19	40947484	Silent	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	2294545	40947484	18181499	245	35407											
SHKBP1	92799	genome.wustl.edu	37	chr19	41094536	41094536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgtgcccctcagtctgtgCcgacaacaaccacgtgcgga	8	8	10	15	3	2	0	1	0	1	0	2	2	2	1	4	1	5	0	4	1	2	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:41094536C>T	ENST00000291842.5	+	14	1392	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	SHKBP1_ENST00000600733.1_Missense_Mutation_p.A423V|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	448					protein homooligomerization (GO:0051260)			p.A448V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCAGTCTGTGCCGACAACAAC	0.617																																																	1	Substitution - Missense(1)	urinary_tract(1)											161	145	151					19																	41094536		2203	4300	6503	SO:0001583	missense	0			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1343C>T	19.37:g.41094536C>T	ENSP00000291842:p.Ala448Val		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.A448V	ENST00000291842.5	37	c.1343	CCDS12560.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.165977	0.94768	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.06768	3.26	4.21	4.21	0.49690	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D	0.76494	0.968;0.992;0.994;0.996;0.999;0.993	P;D;D;D;D;D	0.77557	0.79;0.913;0.985;0.99;0.986;0.978	T	0.01045	-1.1470	10	0.87932	D	0	-10.7559	15.5015	0.75703	0.0:1.0:0.0:0.0	.	326;228;371;285;448;448	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	V	448;228	ENSP00000291842:A448V	ENSP00000291842:A448V	A	+	2	0	SHKBP1	45786376	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	5.514000	0.67043	2.182000	0.69389	0.462000	0.41574	GCC	SHKBP1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000160410		0.617	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2		0	53	0	C	NM_138392		41094536	1			no_errors	ENST00000291842	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T	T	41094536	C	T	41094536	3	4	138	1	0	0	0	0	1	0	0	0	14329	739	26	3	1397	3	SHKBP1	19	41094536	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	147052	41094536	18034447	246	35408											
C19orf54	284325	genome.wustl.edu	37	chr19	41255428	41255428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctcttcacatcttctctgCccttggggaccgggccggcc	3	10	11	17	2	4	0	1	0	3	0	5	1	4	1	5	4	1	0	5	4	0	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:41255428C>T	ENST00000378313.2	-	1	400	c.281G>A	c.(280-282)gGc>gAc	p.G94D	C19orf54_ENST00000598485.2_5'UTR|C19orf54_ENST00000598729.1_5'UTR|SNRPA_ENST00000243563.3_5'Flank|C19orf54_ENST00000470681.1_5'UTR|C19orf54_ENST00000339153.3_5'UTR	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	94										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATCTTCTCTGCCCTTGGGGAC	0.612																																																	0													27	32	31					19																	41255428		692	1591	2283	SO:0001583	missense	0			AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.281G>A	19.37:g.41255428C>T	ENSP00000367564:p.Gly94Asp		A8MSZ5|B4DNU7	Missense_Mutation	SNP	NULL	p.G94D	ENST00000378313.2	37	c.281	CCDS12564.2	19	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828631	0.50845	.	.	ENSG00000188493	ENST00000378313	.	.	.	4.59	1.11	0.20524	.	0.520751	0.15099	U	0.280639	T	0.19765	0.0475	N	0.14661	0.345	0.34388	D	0.693907	P	0.44429	0.835	B	0.36922	0.236	T	0.24190	-1.0167	9	0.23891	T	0.37	-3.4246	7.3624	0.26754	0.1795:0.4717:0.3489:0.0	.	94	Q5BKX5	CS054_HUMAN	D	94	.	ENSP00000367564:G94D	G	-	2	0	C19orf54	45947268	0.340000	0.24792	0.930000	0.37139	0.994000	0.84299	0.325000	0.19628	1.113000	0.41760	0.655000	0.94253	GGC	C19orf54	-	NULL	ENSG00000188493		0.612	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf54	HGNC	protein_coding	OTTHUMT00000316701.1	-	0	87	0	C	NM_198476		41255428	-1	tier1	-	no_errors	ENST00000378313	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.348	T	T	41255428	C	T	41255428	3	4	138	1	0	0	0	0	1	0	0	0	1943	739	26	3	798	3	C19orf54	19	41255428	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	160892	41255428	17873555	247	35409											
CEACAM4	1089	genome.wustl.edu	37	chr19	42126967	42126967	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ccaggggtggaggctgggggCggctgctccctgaggtcacg	4	6	20	11	2	1	1	1	1	0	0	2	2	2	2	2	8	1	3	2	8	0	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:42126967C>T	ENST00000221954.2	-	4	686	c.576G>A	c.(574-576)ccG>ccA	p.P192P	CEACAM4_ENST00000600925.1_Silent_p.P190P	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	192						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						AGGCTGGGGGCGGCTGCTCCC	0.627																																																	0													30	31	31					19																	42126967		2203	4299	6502	SO:0001819	synonymous_variant	0			D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.576G>A	19.37:g.42126967C>T			Q03715|Q7LDZ7	Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like_dom	p.P192	ENST00000221954.2	37	c.576	CCDS33033.1	19																																																																																			CEACAM4	-	NULL	ENSG00000105352		0.627	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM4	HGNC	protein_coding	OTTHUMT00000321148.1	-	0	65	0	C	NM_001817		42126967	-1	tier1	-	no_errors	ENST00000221954	ensembl	human	known	74_37	silent	26.42	39	14	SNP	0.000	T	T	42126967	C	T	42126967	2	4	138	1	0	0	0	0	0	0	0	1	3201	755	27	1		1	CEACAM4	19	42126967	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	871539	42126967	17002016	248	35410											
LMTK3	114783	genome.wustl.edu	37	chr19	49004773	49004773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcccgtagtctccgatgcGcacggtcaggtcagaggtca	8	7	13	13	4	4	1	3	0	1	1	5	2	4	1	2	3	2	2	2	3	1	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:49004773G>A	ENST00000600059.1	-	8	1068	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	LMTK3_ENST00000270238.3_Missense_Mutation_p.R310C			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		TCTCCGATGCGCACGGTCAGG	0.687																																																	0													42	51	48					19																	49004773		2178	4258	6436	SO:0001583	missense	0			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.841C>T	19.37:g.49004773G>A	ENSP00000472020:p.Arg281Cys		Q4G0U1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R310C	ENST00000600059.1	37	c.928		19	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245525	0.80024	.	.	ENSG00000142235	ENST00000270238	D	0.83673	-1.75	3.44	3.44	0.39384	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000003	D	0.84844	0.5562	L	0.31578	0.945	0.52099	D	0.999947	D	0.89917	1.0	D	0.79784	0.993	D	0.86567	0.1845	10	0.87932	D	0	.	12.8489	0.57846	0.0:0.0:1.0:0.0	.	281	Q96Q04	LMTK3_HUMAN	C	310	ENSP00000270238:R310C	ENSP00000270238:R310C	R	-	1	0	LMTK3	53696585	0.993000	0.37304	1.000000	0.80357	0.970000	0.65996	2.524000	0.45589	1.950000	0.56595	0.444000	0.29173	CGC	LMTK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000142235		0.687	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	-	0	65	0	G	NM_052895		49004773	-1	tier1	-	no_errors	ENST00000270238	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A	A	49004773	G	A	49004773	3	1	138	1	0	0	0	0	1	0	0	0	8890	1087	38	1	3573	1	LMTK3	19	49004773	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	6877806	49004773	10124210	249	35411											
NUCB1	4924	genome.wustl.edu	37	chr19	49414486	49414486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatacattcgaggcccgcGacctggagctgctgatccag	9	7	12	13	3	0	1	0	1	0	0	2	4	1	2	3	2	4	3	3	2	1	2	rs375589971		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:49414486G>A	ENST00000405315.4	+	5	791	c.457G>A	c.(457-459)Gac>Aac	p.D153N	NUCB1_ENST00000485798.1_Intron|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000263273.5_Missense_Mutation_p.D153N|NUCB1_ENST00000407032.1_Missense_Mutation_p.D153N	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	153						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)		CGAGGCCCGCGACCTGGAGCT	0.557																																																	0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	61	52	55		457	5	1	19		55	0,8600		0,0,4300	no	missense	NUCB1	NM_006184.5	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	153/462	49414486	1,13005	2203	4300	6503	SO:0001583	missense	0			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.457G>A	19.37:g.49414486G>A	ENSP00000385923:p.Asp153Asn		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.D153N	ENST00000405315.4	37	c.457	CCDS12740.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.218225	0.95104	2.27E-4	0.0	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000263273	T;T;T	0.36878	1.23;1.23;1.23	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74904	-0.3505	10	0.72032	D	0.01	.	16.2298	0.82323	0.0:0.0:1.0:0.0	.	153;153	Q02818;Q53GX6	NUCB1_HUMAN;.	N	153	ENSP00000385923:D153N;ENSP00000385211:D153N;ENSP00000263273:D153N	ENSP00000263273:D153N	D	+	1	0	NUCB1	54106298	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	9.278000	0.95766	2.519000	0.84933	0.549000	0.68633	GAC	NUCB1	-	NULL	ENSG00000104805		0.557	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUCB1	HGNC	protein_coding	OTTHUMT00000326545.2	-	0	41	0	G	NM_006184		49414486	1	tier1	-	no_errors	ENST00000263273	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	A	A	49414486	G	A	49414486	3	1	138	1	0	0	0	0	1	0	0	0	10757	1058	37	1	471	1	NUCB1	19	49414486	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	409713	49414486	9714497	250	35412											
SIGLEC12	89858	genome.wustl.edu	37	chr19	52004579	52004580	+	Missense_Mutation	DNP	GC	GC	AA																															acctgtcacattcacagagaGctggtcatatttataattcc																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:52004579_52004580GC>AA	ENST00000291707.3	-	1	463_464	c.408_409GC>TT	c.(406-411)caGCtc>caTTtc	p.136_137QL>HF	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	136	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)		TTCACAGAGAGCTGGTCATATT	0.485																																																	0																																										SO:0001583	missense	0			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.408_409delinsAA	19.37:g.52004579_52004580delinsAA	ENSP00000291707:p.Q136_L137delinsHF		Q8IYH7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L137F|p.Q136H	ENST00000291707.3	37	c.409|c.408	CCDS12833.1	19																																																																																			SIGLEC12	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000254521		0.485	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	|-	0	96	0	G|C	NM_053003		52004579|52004580	-1	|tier1	|-	no_errors	ENST00000291707	ensembl	human	known	74_37	missense	6.25	75	5	SNP	0.000	A	AA	52004580	GC	AA	52004579	3	1	138	1	0	0	0	0	1	0	0	0	14353	971	34	3	1483	3	SIGLEC12	19	52004579	Missense_Mutation	DNP	GC	TCGA-Q9-A6FW-01A-31D-A31U-09	2590093	52004579	7124404	251	35413											
KIR3DL1	3811	genome.wustl.edu	37	chr19	55333153	55333153	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggaggggggagcccatgaAcgtaggctccctgcagtgcg	8	5	18	10	2	0	1	0	1	0	0	1	3	1	3	2	5	4	3	2	5	2	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:55333153A>C	ENST00000391728.4	+	5	822	c.789A>C	c.(787-789)gaA>gaC	p.E263D	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E263D|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E263D|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E263D|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E168D|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E263D	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	263	Ig-like C2-type 3.				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)		GAGCCCATGAACGTAGGCTCC	0.602																																																	0													13	13	13					19																	55333153		2038	3959	5997	SO:0001583	missense	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.789A>C	19.37:g.55333153A>C	ENSP00000375608:p.Glu263Asp		O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.E263D	ENST00000391728.4	37	c.789	CCDS42621.1	19	.	.	.	.	.	.	.	.	.	.	-	9.483	1.098625	0.20552	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87	1.47	-1.11	0.09840	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37073	0.0990	L	0.60957	1.885	0.09310	N	1	B;B;P;B	0.41131	0.353;0.021;0.739;0.012	B;B;P;B	0.60236	0.12;0.018;0.871;0.007	T	0.38802	-0.9644	9	0.87932	D	0	.	2.2697	0.04087	0.4695:0.313:0.2176:0.0	.	263;168;263;263	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	D	263;263;263;241;263;263;168	ENSP00000384528:E263D;ENSP00000443350:E263D;ENSP00000442355:E263D;ENSP00000375608:E263D;ENSP00000326868:E263D;ENSP00000350901:E168D	ENSP00000326868:E263D	E	+	3	2	KIR3DL1	60024965	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.841000	0.00737	-0.387000	0.07809	0.155000	0.16302	GAA	KIR3DL1	-	pfam_Immunoglobulin,smart_Ig_sub	ENSG00000167633		0.602	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	-	0	58	0	A	NM_013289		55333153	1	tier1	-	no_errors	ENST00000402254	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.000	C	C	55333153	A	C	55333153	3	2	138	1	0	0	0	0	1	0	0	0	8347	40	2	4	807	4	KIR3DL1	19	55333153	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	3328574	55333153	3795830	252	35414											
ZFP28	140612	genome.wustl.edu	37	chr19	57066743	57066743	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttctctggaatccatcCtccctcccatcaccatagcc	10	11	3	17	0	2	0	1	0	1	0	7	1	6	1	6	1	1	0	6	1	3	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:57066743C>G	ENST00000301318.3	+	8	2660	c.2589C>G	c.(2587-2589)tcC>tcG	p.S863S	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	863					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GGAATCCATCCTCCCTCCCAT	0.458																																					Ovarian(124;554 1662 19430 21141 52494)												0													303	290	294					19																	57066743		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2589C>G	19.37:g.57066743C>G			A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S863	ENST00000301318.3	37	c.2589	CCDS12946.1	19																																																																																			ZFP28	-	NULL	ENSG00000196867		0.458	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	-	0	45	0	C	NM_020828		57066743	1	tier1	-	no_errors	ENST00000301318	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.185	G	G	57066743	C	G	57066743	2	3	138	1	0	0	0	0	0	0	0	1	17690	668	24	5		5	ZFP28	19	57066743	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1733590	57066743	2062240	253	35415											
ZNF814	730051	genome.wustl.edu	37	chr19	58385788	58385788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacattctccacattcatAaggtcttttcccagtgtgaa	10	13	5	13	0	3	1	1	1	2	0	5	1	4	1	3	1	0	0	3	1	2	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr19:58385788A>G	ENST00000435989.2	-	3	1204	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_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	0				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	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y324H	ENST00000435989.2	37	c.970	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	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	ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204514		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	-	0	115	0	A	XM_001725708		58385788	-1	tier1	-	no_errors	ENST00000435989	ensembl	human	known	74_37	missense	6.80	96	7	SNP	0.063	G	G	58385788	A	G	58385788	3	3	138	1	0	0	0	0	1	0	0	0	18224	362	13	4	1601	4	ZNF814	19	58385788	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	1319045	58385788	743195	254	35416											
SIGLEC1	6614	genome.wustl.edu	37	chr20	3674201	3674201	+	Missense_Mutation	SNP	A	A	G	1	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	ctgtgacgttgggcagggggAtggagtgggcatccaggcgc	6	7	20	8	2	0	1	0	1	0	0	1	3	1	3	1	6	0	3	1	6	0	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr20:3674201A>G	ENST00000344754.4	-	13	3400	c.3401T>C	c.(3400-3402)aTc>aCc	p.I1134T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.I1134T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1134	Ig-like C2-type 11.				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						GGGCAGGGGGATGGAGTGGGC	0.657																																																	0													62	48	53					20																	3674201		2203	4300	6503	SO:0001583	missense	0			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.3401T>C	20.37:g.3674201A>G	ENSP00000341141:p.Ile1134Thr		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I1134T	ENST00000344754.4	37	c.3401	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351789	0.41700	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.12672	2.66;2.66	5.52	5.52	0.82312	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.42548	D	0.000692	T	0.27866	0.0686	M	0.69358	2.11	0.31066	N	0.713526	P;B	0.50066	0.931;0.295	P;B	0.54100	0.742;0.132	T	0.28490	-1.0042	10	0.87932	D	0	.	12.0405	0.53450	1.0:0.0:0.0:0.0	.	1134;1134	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	T	1134	ENSP00000341141:I1134T;ENSP00000202578:I1134T	ENSP00000202578:I1134T	I	-	2	0	SIGLEC1	3622201	1.000000	0.71417	0.904000	0.35570	0.014000	0.08584	5.080000	0.64437	2.111000	0.64477	0.533000	0.62120	ATC	SIGLEC1	-	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000088827		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	-	0	144	0	A	NM_023068		3674201	-1	tier1	-	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	5.74	113	7	SNP	0.722	G	G	3674201	A	G	3674201	3	3	138	1	0	0	0	0	1	0	0	0	14350	333	12	4	1764	4	SIGLEC1	20	3674201	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09		3674201	59351319	255	35417											
MYLK2	85366	genome.wustl.edu	37	chr20	30414509	30414509	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcatgagatcgtcctgttCatggagtagtgagtgcccga	8	10	13	10	3	1	2	1	2	0	1	3	5	2	3	3	1	1	3	3	1	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr20:30414509C>T	ENST00000375994.2	+	6	1347	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	MYLK2_ENST00000375985.4_Silent_p.F358F			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	358	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			IVLFMEY -> GGVCAHS (in Ref. 4; AAH07753). {ECO:0000305}.	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)			TCGTCCTGTTCATGGAGTAGT	0.577																																																	0													97	80	86					20																	30414509		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1074C>T	20.37:g.30414509C>T			Q569L1|Q96I84	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F358	ENST00000375994.2	37	c.1074	CCDS13191.1	20																																																																																			MYLK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000101306		0.577	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	HGNC	protein_coding	OTTHUMT00000078583.2	-	0	40	0	C	NM_033118		30414509	1	tier1	-	no_errors	ENST00000375985	ensembl	human	known	74_37	silent	17.14	29	6	SNP	1.000	T	T	30414509	C	T	30414509	2	4	138	1	0	0	0	0	0	0	0	1	10095	825	29	3		3	MYLK2	20	30414509	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	26740308	30414509	32611011	256	35418											
XKR7	343702	genome.wustl.edu	37	chr20	30584921	30584921	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ccctgtggcccacccgctgaCgccatcacgagtccccccag	6	5	9	21	3	1	1	1	1	0	0	2	2	2	1	7	1	0	1	7	1	0	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr20:30584921C>T	ENST00000562532.2	+	3	1575	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	467						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)			CACCCGCTGACGCCATCACGA	0.667																																																	0													39	40	40					20																	30584921		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1401C>T	20.37:g.30584921C>T			Q9NUG5	Silent	SNP	pfam_Transport_prot_XK	p.D467	ENST00000562532.2	37	c.1401	CCDS33459.1	20																																																																																			XKR7	-	NULL	ENSG00000260903		0.667	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3	-	0	32	0	C	NM_001011718		30584921	1	tier1	-	no_errors	ENST00000562532	ensembl	human	known	74_37	silent	18.52	22	5	SNP	0.971	T	T	30584921	C	T	30584921	2	4	138	1	0	0	0	0	0	0	0	1	17485	535	19	1		1	XKR7	20	30584921	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	170412	30584921	32440599	257	35419											
TM9SF4	9777	genome.wustl.edu	37	chr20	30734620	30734620	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattatcattcggaccctcCggaaggacattgccaactac	11	10	8	12	2	1	1	1	1	0	0	3	4	2	4	3	3	3	0	3	3	4	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr20:30734620C>A	ENST00000398022.2	+	9	1151	c.916C>A	c.(916-918)Cgg>Agg	p.R306R	TM9SF4_ENST00000217315.5_Silent_p.R289R	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	306						integral component of membrane (GO:0016021)		p.R289W(1)		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)			TCGGACCCTCCGGAAGGACAT	0.552																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											126	93	104					20																	30734620		2203	4300	6503	SO:0001819	synonymous_variant	0			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.916C>A	20.37:g.30734620C>A			B0QYT7|Q9NUA3	Silent	SNP	pfam_EMP70	p.R306	ENST00000398022.2	37	c.916	CCDS13196.2	20																																																																																			TM9SF4	-	pfam_EMP70	ENSG00000101337		0.552	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF4	HGNC	protein_coding	OTTHUMT00000323568.1		0	40	0	C	NM_014742		30734620	1			no_errors	ENST00000398022	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	A	A	30734620	C	A	30734620	2	1	138	1	0	0	0	0	0	0	0	1	16027	643	23	2		2	TM9SF4	20	30734620	Silent	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	149699	30734620	32290900	258	35420											
EPB41L1	2036	genome.wustl.edu	37	chr20	34776395	34776395	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcctacaagaggagtaacTtctatatcaagatccggcct	12	11	7	11	1	3	2	1	0	2	2	5	3	4	3	3	2	2	1	3	2	6	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr20:34776395T>G	ENST00000338074.2	+	9	1161	c.1000T>G	c.(1000-1002)Ttc>Gtc	p.F334V	EPB41L1_ENST00000373946.3_Missense_Mutation_p.F303V|EPB41L1_ENST00000373950.2_Missense_Mutation_p.F237V|EPB41L1_ENST00000441639.1_Missense_Mutation_p.F272V|EPB41L1_ENST00000202028.5_Missense_Mutation_p.F272V|EPB41L1_ENST00000373941.1_Missense_Mutation_p.F334V	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	334	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)					GAGGAGTAACTTCTATATCAA	0.557																																																	0													73	64	67					20																	34776395		2203	4300	6503	SO:0001583	missense	0			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.1000T>G	20.37:g.34776395T>G	ENSP00000337168:p.Phe334Val		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.F334V	ENST00000338074.2	37	c.1000	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	T	31	5.080152	0.94050	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.45	5.45	0.79879	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	D	0.96068	0.8719	H	0.95470	3.675	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.991;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.996;0.982;1.0	D	0.97196	0.9861	9	0.87932	D	0	.	14.3295	0.66545	0.0:0.0:0.0:1.0	.	334;334;303;237;237;272	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	V	272;237;334;237;272;303;334;334	ENSP00000202028:F272V;ENSP00000363061:F237V;ENSP00000399214:F272V;ENSP00000363057:F303V;ENSP00000337168:F334V;ENSP00000363052:F334V	ENSP00000202028:F272V	F	+	1	0	EPB41L1	34239809	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.073000	0.62155	0.459000	0.35465	TTC	EPB41L1	-	pfam_FERM_PH-like_C,pirsf_Band_41_protein,pfscan_FERM_domain	ENSG00000088367		0.557	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	-	0	36	0	T	NM_012156		34776395	1	tier1	-	no_errors	ENST00000338074	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	G	G	34776395	T	G	34776395	3	3	138	1	0	0	0	0	1	0	0	0	5168	1609	56	4	1030	4	EPB41L1	20	34776395	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	4041775	34776395	28249125	259	35421											
PTPN1	5770	genome.wustl.edu	37	chr20	49195805	49195805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagacagccgaccagctgcGcttctcctacctggctgtga	7	8	10	16	2	1	2	0	1	1	1	2	3	1	2	5	1	4	3	5	1	1	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr20:49195805G>T	ENST00000371621.3	+	7	977	c.803G>T	c.(802-804)cGc>cTc	p.R268L	PTPN1_ENST00000541713.1_Missense_Mutation_p.R195L|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	268	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)	GACCAGCTGCGCTTCTCCTAC	0.498																																																	0													137	140	139					20																	49195805		2203	4300	6503	SO:0001583	missense	0				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.803G>T	20.37:g.49195805G>T	ENSP00000360683:p.Arg268Leu		Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R268L	ENST00000371621.3	37	c.803	CCDS13430.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.136638	0.94517	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	D;D	0.82619	-1.63;-1.63	5.64	4.7	0.59300	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000003	D	0.88262	0.6389	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89199	0.3556	10	0.72032	D	0.01	.	14.5221	0.67856	0.0704:0.0:0.9296:0.0	.	268	P18031	PTN1_HUMAN	L	268;195	ENSP00000360683:R268L;ENSP00000437732:R195L	ENSP00000360683:R268L	R	+	2	0	PTPN1	48629212	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	9.869000	0.99810	1.382000	0.46385	0.563000	0.77884	CGC	PTPN1	-	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000196396		0.498	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN1	HGNC	protein_coding	OTTHUMT00000079694.2	-	0	61	0	G			49195805	1	tier1	-	no_errors	ENST00000371621	ensembl	human	known	74_37	missense	24.56	43	14	SNP	1.000	T	T	49195805	G	T	49195805	3	4	138	1	0	0	0	0	1	0	0	0	12822	1087	38	2	829	2	PTPN1	20	49195805	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	14419410	49195805	13829715	260	35422											
GNAS	2778	genome.wustl.edu	37	chr20	57415196	57415196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggctcagcagtggcgccGagctcgccataattacaacg	9	6	12	14	5	1	0	1	0	0	0	2	1	1	0	3	2	4	3	3	2	3	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr20:57415196G>A	ENST00000313949.7	+	1	424	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.R12Q|GNAS_ENST00000371075.3_Missense_Mutation_p.R12Q|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CAGTGGCGCCGAGCTCGCCAT	0.672			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													29	37	34					20																	57415196		2198	4294	6492	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.35G>A	20.37:g.57415196G>A	ENSP00000323571:p.Arg12Gln		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_NESP55	p.R12Q	ENST00000313949.7	37	c.35	CCDS13471.1	20	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632302	0.67015	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075	.	.	.	3.75	3.75	0.43078	.	.	.	.	.	T	0.61035	0.2315	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.64377	-0.6422	8	0.87932	D	0	.	11.3582	0.49627	0.0:0.0:1.0:0.0	.	12	O95467	GNAS3_HUMAN	Q	12	.	ENSP00000323571:R12Q	R	+	2	0	GNAS	56848591	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.731000	0.55013	2.406000	0.81754	0.484000	0.47621	CGA	GNAS	-	pfam_NESP55	ENSG00000087460		0.672	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080418.7		0	96	0	G	NM_000516		57415196	1			no_errors	ENST00000313949	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	A	A	57415196	G	A	57415196	3	1	138	1	0	0	0	0	1	0	0	0	6536	1058	37	1	37	1	GNAS	20	57415196	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	8219391	57415196	5610324	261	35423											
ADRM1	11047	genome.wustl.edu	37	chr20	60882434	60882434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccctcgcaggtgggctGggggccctgactggacctgg	3	8	17	13	1	0	1	0	1	0	0	1	2	0	2	4	6	1	2	4	6	0	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr20:60882434G>A	ENST00000253003.2	+	6	595	c.549G>A	c.(547-549)ctG>ctA	p.L183L	RP11-157P1.4_ENST00000414042.1_RNA|LAMA5_ENST00000492698.1_5'Flank	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	183	Gly-rich.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CAGGTGGGCTGGGGGCCCTGA	0.667																																																	0													29	30	30					20																	60882434		2197	4297	6494	SO:0001819	synonymous_variant	0			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.549G>A	20.37:g.60882434G>A			A0PKB1|Q96FJ7|Q9H1P2	Silent	SNP	pfam_26S_Psome_Ubiquitin-recp_Rpn13	p.L183	ENST00000253003.2	37	c.549	CCDS13496.1	20																																																																																			ADRM1	-	pfam_26S_Psome_Ubiquitin-recp_Rpn13	ENSG00000130706		0.667	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRM1	HGNC	protein_coding	OTTHUMT00000080007.1	-	0	76	0	G			60882434	1	tier1	-	no_errors	ENST00000253003	ensembl	human	known	74_37	silent	26.76	52	19	SNP	0.997	A	A	60882434	G	A	60882434	2	1	138	1	0	0	0	0	0	0	0	1	345	1335	47	3		3	ADRM1	20	60882434	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	3467238	60882434	2143086	262	35424											
NRIP1	8204	genome.wustl.edu	37	chr21	16338329	16338330	+	Frame_Shift_Ins	INS	-	-	T																															tctcttaagggagttttctcINSttttttttcactcttccctt																										TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr21:16338329_16338330insT	ENST00000400202.1	-	3	2896_2897	c.2184_2185insA	c.(2182-2187)aaagagfs	p.E729fs	NRIP1_ENST00000318948.4_Frame_Shift_Ins_p.E729fs|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Frame_Shift_Ins_p.E729fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	729					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)		GGAGTTTTCTCTTTTTTTTCAC	0.411																																																	0																																										SO:0001589	frameshift_variant	0			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.2185dupA	21.37:g.16338337_16338337dupT	ENSP00000383063:p.Glu729fs		Q8IWE8	Frame_Shift_Ins	INS	NULL	p.E728fs	ENST00000400202.1	37	c.2185_2184	CCDS13568.1	21																																																																																			NRIP1	-	NULL	ENSG00000180530		0.411	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1		0	33	0	-	NM_003489		16338330	-1	tier1		no_errors	ENST00000318948	ensembl	human	known	74_37	frame_shift_ins	11.11	24	3	INS	0.999:0.998	T	T	16338330	-	T	16338329	7	5	138	1	0	1	1	0	0	0	0	0	10691	922	32	0	1295	0	NRIP1	21	16338329	Frame_Shift_Ins	INS	-	TCGA-Q9-A6FW-01A-31D-A31U-09		16338329	31791566	263	35425											
CLDN8	9073	genome.wustl.edu	37	chr21	31587909	31587909	+	Missense_Mutation	SNP	T	T	C	0	1	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	gaatgtgagccttcaccttcTcattgtcccccgtgcacctg	6	12	8	15	1	2	1	2	1	1	0	4	2	3	1	5	0	2	1	5	0	1	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr21:31587909T>C	ENST00000399899.1	-	1	482	c.335A>G	c.(334-336)gAg>gGg	p.E112G	CLDN8_ENST00000286809.1_Missense_Mutation_p.E112G	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	112					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						CTTCACCTTCTCATTGTCCCC	0.542																																																	0													110	93	99					21																	31587909		2203	4300	6503	SO:0001583	missense	0			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"Claudins"	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.335A>G	21.37:g.31587909T>C	ENSP00000382783:p.Glu112Gly		D3DSE3|Q53EX7	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14	p.E112G	ENST00000399899.1	37	c.335	CCDS13587.1	21	.	.	.	.	.	.	.	.	.	.	T	9.434	1.086235	0.20390	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.89123	-2.47;-2.47	4.78	4.78	0.61160	.	0.343803	0.28889	N	0.013802	D	0.87301	0.6143	M	0.68952	2.095	0.09310	N	1	B	0.27765	0.188	B	0.36186	0.219	T	0.79664	-0.1709	10	0.49607	T	0.09	.	6.2605	0.20897	0.0:0.0841:0.163:0.7529	.	112	P56748	CLD8_HUMAN	G	112	ENSP00000382783:E112G;ENSP00000286809:E112G	ENSP00000286809:E112G	E	-	2	0	CLDN8	30509780	0.001000	0.12720	0.040000	0.18447	0.652000	0.38707	1.177000	0.31969	2.141000	0.66446	0.491000	0.48974	GAG	CLDN8	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000156284		0.542	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN8	HGNC	protein_coding	OTTHUMT00000182260.1		0	61	0	T	NM_199328		31587909	-1			no_errors	ENST00000286809	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.041	C	C	31587909	T	C	31587909	3	2	138	1	0	0	0	0	1	0	0	0	3498	1551	54	4	346	4	CLDN8	21	31587909	Missense_Mutation	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09	15249580	31587909	16541986	264	35426											
SFRS15	57466	genome.wustl.edu	37	chr21	33063176	33063176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ctccagttcctcaggcttgaCtttgtcccatggaatataag	9	13	8	11	0	1	1	1	1	0	0	4	2	4	2	3	2	0	2	3	2	3	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr21:33063176C>G	ENST00000286835.7	-	15	2201	c.1819G>C	c.(1819-1821)Gtc>Ctc	p.V607L	SCAF4_ENST00000399804.1_Missense_Mutation_p.V607L|SCAF4_ENST00000434667.3_Missense_Mutation_p.V592L	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	607						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						TCAGGCTTGACTTTGTCCCAT	0.398																																																	0													206	198	201					21																	33063176		2203	4300	6503	SO:0001583	missense	0			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.1819G>C	21.37:g.33063176C>G	ENSP00000286835:p.Val607Leu		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.V607L	ENST00000286835.7	37	c.1819	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141108	0.56936	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.48522	0.81;0.87;0.87	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000018	T	0.43545	0.1252	N	0.20530	0.585	0.58432	D	0.99999	P;P;P;P	0.50528	0.894;0.894;0.936;0.894	B;B;P;B	0.50405	0.437;0.437;0.64;0.437	T	0.12863	-1.0531	10	0.08837	T	0.75	-11.9762	20.2033	0.98269	0.0:1.0:0.0:0.0	.	592;607;607;607	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	L	592;607;607	ENSP00000402377:V592L;ENSP00000286835:V607L;ENSP00000382703:V607L	ENSP00000286835:V607L	V	-	1	0	SCAF4	31985047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.186000	0.50942	2.779000	0.95612	0.655000	0.94253	GTC	SCAF4	-	NULL	ENSG00000156304		0.398	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	-	0	74	0	C	XM_047889		33063176	-1	tier1	-	no_errors	ENST00000286835	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	G	G	33063176	C	G	33063176	3	3	138	1	0	0	0	0	1	0	0	0	14216	565	20	5	1648	5	SFRS15	21	33063176	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1475267	33063176	15066719	265	35427											
DSCAM	1826	genome.wustl.edu	37	chr21	41446994	41446994	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagcctctgctcccgccGcctcctccgcacaaccagca	6	8	6	21	3	1	0	0	0	1	0	4	0	4	0	7	0	4	3	7	0	2	2	rs201077680	byFrequency	TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr21:41446994G>T	ENST00000400454.1	-	27	5335	c.4858C>A	c.(4858-4860)Cgg>Agg	p.R1620R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1620					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)				TGCTCCCGCCGCCTCCTCCGC	0.627													G|||	2	0.000399361	0	0	5008	,	,		16671	0		0	False		,,,				2504	0.002				Melanoma(134;970 1778 1785 21664 32388)												0								G		0,4224		0,0,2112	67	83	78		4858	-0.5	0.3	21		78	7,8423		0,7,4208	no	coding-synonymous	DSCAM	NM_001389.3		0,7,6320	TT,TG,GG		0.083,0.0,0.0553		1620/2013	41446994	7,12647	2112	4215	6327	SO:0001819	synonymous_variant	0			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.4858C>A	21.37:g.41446994G>T			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1620	ENST00000400454.1	37	c.4858	CCDS42929.1	21																																																																																			DSCAM	-	NULL	ENSG00000171587		0.627	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0	67	0	G	NM_001389		41446994	-1	tier1	rs201077680	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	13.79	50	8	SNP	0.998	T	T	41446994	G	T	41446994	2	4	138	1	0	0	0	0	0	0	0	1	4782	1086	38	2		2	DSCAM	21	41446994	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	8383818	41446994	6682901	266	35428											
DIP2A	23181	genome.wustl.edu	37	chr21	47987287	47987287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttctctctgcagtgccGtattcacctggaccaacctg	6	13	8	14	1	4	0	1	0	3	0	5	1	4	1	4	1	3	2	4	1	2	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr21:47987287G>A	ENST00000417564.2	+	38	4489	c.4468G>A	c.(4468-4470)Gta>Ata	p.V1490I	DIP2A_ENST00000318711.7_Missense_Mutation_p.V1491I|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000400274.1_Missense_Mutation_p.V1486I			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1490					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)		CTGCAGTGCCGTATTCACCTG	0.582																																																	0													86	91	90					21																	47987287		2203	4300	6503	SO:0001583	missense	0			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.4468G>A	21.37:g.47987287G>A	ENSP00000392066:p.Val1490Ile		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V1491I	ENST00000417564.2	37	c.4471	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	33	5.228460	0.95173	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.20738	2.05;2.05;2.05	5.8	5.8	0.92144	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.986;0.988	T	0.48305	-0.9047	10	0.49607	T	0.09	-26.1953	19.0426	0.93006	0.0:0.0:1.0:0.0	.	1491;1490	E9PER1;Q14689	.;DIP2A_HUMAN	I	1486;1491;1490	ENSP00000383133:V1486I;ENSP00000323633:V1491I;ENSP00000392066:V1490I	ENSP00000323633:V1491I	V	+	1	0	DIP2A	46811715	1.000000	0.71417	0.912000	0.35992	0.924000	0.55760	9.627000	0.98412	2.748000	0.94277	0.655000	0.94253	GTA	DIP2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000160305		0.582	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1		0	37	0	G	NM_015151		47987287	1			no_errors	ENST00000318711	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	A	A	47987287	G	A	47987287	3	1	138	1	0	0	0	0	1	0	0	0	4541	1145	40	1	4731	1	DIP2A	21	47987287	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	6540293	47987287	142608	267	35429											
ZDHHC8	29801	genome.wustl.edu	37	chr22	20131087	20131087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accgcggacgtcgtcctcctCcctgcaggctgatcaggcca	6	7	11	17	4	1	1	1	1	0	0	5	2	4	2	5	3	1	2	5	3	0	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr22:20131087C>T	ENST00000334554.7	+	10	2075	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.S645F|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.S553F	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	645					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TCGTCCTCCTCCCTGCAGGCT	0.741																																																	0													21	22	22					22																	20131087		2184	4296	6480	SO:0001583	missense	0			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1934C>T	22.37:g.20131087C>T	ENSP00000334490:p.Ser645Phe		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.S645F	ENST00000334554.7	37	c.1934	CCDS13776.1	22	.	.	.	.	.	.	.	.	.	.	.	14.75	2.627467	0.46944	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.78126	0.89;-1.15;0.99	4.71	3.69	0.42338	.	0.688999	0.14052	N	0.344627	D	0.85801	0.5781	M	0.63843	1.955	0.58432	D	0.999999	P;B;D	0.76494	0.683;0.023;0.999	P;B;D	0.85130	0.469;0.032;0.997	D	0.84799	0.0783	10	0.72032	D	0.01	.	12.7128	0.57100	0.0:0.9194:0.0:0.0806	.	553;645;645	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	F	645;553;645	ENSP00000334490:S645F;ENSP00000317804:S553F;ENSP00000384716:S645F	ENSP00000317804:S553F	S	+	2	0	ZDHHC8	18511087	1.000000	0.71417	0.987000	0.45799	0.094000	0.18550	7.411000	0.80078	0.973000	0.38340	0.467000	0.42956	TCC	ZDHHC8	-	NULL	ENSG00000099904		0.741	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC8	HGNC	protein_coding	OTTHUMT00000318564.1	-	0	73	0	C	NM_013373		20131087	1	tier1	-	no_errors	ENST00000405930	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	T	T	20131087	C	T	20131087	3	4	138	1	0	0	0	0	1	0	0	0	17669	855	30	3	1972	3	ZDHHC8	22	20131087	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09		20131087	31173479	268	35430											
SMARCB1	6598	genome.wustl.edu	37	chr22	24133947	24133947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttgctttactcataggtggGaaactacctccgtatgttcc	8	14	8	11	1	1	0	1	0	0	0	3	1	3	1	3	2	4	3	3	2	5	7			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr22:24133947G>A	ENST00000263121.7	+	2	294	c.98G>A	c.(97-99)gGa>gAa	p.G33E	SMARCB1_ENST00000407082.3_Missense_Mutation_p.G33E|SMARCB1_ENST00000407422.3_Missense_Mutation_p.G33E|SMARCB1_ENST00000344921.6_Missense_Mutation_p.G33E	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	33					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)		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)				TCATAGGTGGGAAACTACCTC	0.517			"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	2	Unknown(2)	soft_tissue(2)											147	150	149					22																	24133947		2203	4300	6503	SO:0001583	missense	0			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.98G>A	22.37:g.24133947G>A	ENSP00000263121:p.Gly33Glu		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.G33E	ENST00000263121.7	37	c.98	CCDS13817.1	22	.	.	.	.	.	.	.	.	.	.	G	33	5.231848	0.95207	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.98086	0.9369	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;1.0;0.996	D	0.98643	1.0676	10	0.87932	D	0	-15.9727	19.0134	0.92884	0.0:0.0:1.0:0.0	.	33;33;33;33;33;33	B4E117;B4DRT1;G5E975;Q17S11;Q12824;C9JTA6	.;.;.;.;SNF5_HUMAN;.	E	33	ENSP00000388489:G33E;ENSP00000340883:G33E;ENSP00000263121:G33E;ENSP00000383984:G33E;ENSP00000385226:G33E	ENSP00000263121:G33E	G	+	2	0	SMARCB1	22463947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.539000	0.98076	2.815000	0.96918	0.650000	0.86243	GGA	SMARCB1	-	pirsf_SWI_SNF_chromatin_remodel_cplx	ENSG00000099956		0.517	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1	-	0	34	0	G	NM_003073		24133947	1	tier1	-	no_errors	ENST00000263121	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	A	A	24133947	G	A	24133947	3	1	138	1	0	0	0	0	1	0	0	0	14819	1174	41	3	104	3	SMARCB1	22	24133947	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	4002860	24133947	27170619	269	35431											
TPST2	8459	genome.wustl.edu	37	chr22	26937283	26937283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cctggcgcatggccagcacgCgcgggatgatgcgggtctcc	5	6	16	14	5	1	1	0	1	1	0	2	2	1	2	3	4	2	2	3	4	0	0			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr22:26937283C>T	ENST00000338754.4	-	3	584	c.314G>A	c.(313-315)cGc>cAc	p.R105H	TPST2_ENST00000403880.1_Missense_Mutation_p.R105H|TPST2_ENST00000398110.2_Missense_Mutation_p.R105H	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	105					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GGCCAGCACGCGCGGGATGAT	0.701																																																	0													26	24	25					22																	26937283		2199	4297	6496	SO:0001583	missense	0			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.314G>A	22.37:g.26937283C>T	ENSP00000339813:p.Arg105His		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R105H	ENST00000338754.4	37	c.314	CCDS13839.1	22	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714495	0.89112	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000442495;ENST00000454778	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.09	5.09	0.68999	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	M	0.86573	2.825	0.80722	D	1	D	0.61697	0.99	P	0.52309	0.695	T	0.72276	-0.4341	10	0.48119	T	0.1	-24.5774	17.4869	0.87691	0.0:1.0:0.0:0.0	.	105	O60704	TPST2_HUMAN	H	105;105;105;38;105;105	ENSP00000339813:R105H;ENSP00000381180:R105H;ENSP00000385192:R105H;ENSP00000403875:R105H;ENSP00000400357:R105H	ENSP00000339813:R105H	R	-	2	0	TPST2	25267283	1.000000	0.71417	0.994000	0.49952	0.585000	0.36419	7.204000	0.77872	2.384000	0.81235	0.609000	0.83330	CGC	TPST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000128294		0.701	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	-	0	33	0	C	NM_003595		26937283	-1	tier1	-	no_errors	ENST00000338754	ensembl	human	known	74_37	missense	30.77	27	12	SNP	1.000	T	T	26937283	C	T	26937283	3	4	138	1	0	0	0	0	1	0	0	0	16476	768	27	1	835	1	TPST2	22	26937283	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	2803336	26937283	24367283	270	35432											
PATZ1	23598	genome.wustl.edu	37	chr22	31741150	31741150	+	Missense_Mutation	SNP	A	A	T	1	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	ctggcagatctcgataaccgAcctcatcagcaggaacttgg	11	8	10	12	2	3	1	2	0	1	1	4	4	3	2	2	3	3	2	2	3	2	2			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr22:31741150A>T	ENST00000266269.5	-	1	1068	c.439T>A	c.(439-441)Tcg>Acg	p.S147T	PATZ1_ENST00000405309.3_Missense_Mutation_p.S147T|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000215919.3_Missense_Mutation_p.S147T|PATZ1_ENST00000351933.4_Missense_Mutation_p.S147T	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	147					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						TCGATAACCGACCTCATCAGC	0.567																																																	0													144	151	148					22																	31741150		2203	4300	6503	SO:0001583	missense	0			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.439T>A	22.37:g.31741150A>T	ENSP00000266269:p.Ser147Thr		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S147T	ENST00000266269.5	37	c.439	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	A	20.3	3.972027	0.74246	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.26	4.26	0.50523	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	L	0.27053	0.805	0.58432	D	0.99999	D;D;D;D	0.63046	0.99;0.99;0.992;0.99	P;P;D;P	0.76071	0.719;0.719;0.987;0.719	T	0.73662	-0.3912	10	0.59425	D	0.04	-5.7681	12.8742	0.57982	1.0:0.0:0.0:0.0	.	147;147;147;147	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	T	147	ENSP00000266269:S147T;ENSP00000384173:S147T;ENSP00000337520:S147T;ENSP00000215919:S147T	ENSP00000215919:S147T	S	-	1	0	PATZ1	30071150	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.643000	0.74334	1.698000	0.51180	0.459000	0.35465	TCG	PATZ1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000100105		0.567	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	-	0	23	0	A	NM_032052		31741150	-1	tier1	-	no_errors	ENST00000266269	ensembl	human	known	74_37	missense	21.88	25	7	SNP	1.000	T	T	31741150	A	T	31741150	3	4	138	1	0	0	0	0	1	0	0	0	11515	275	10	5	1927	5	PATZ1	22	31741150	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	4803867	31741150	19563416	271	35433											
ENTHD1	150350	genome.wustl.edu	37	chr22	40139790	40139790	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgttattgatgacattaAgttcttggatcactgtgctc	10	16	9	6	0	2	3	1	2	1	1	3	4	2	4	0	1	1	3	0	1	2	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr22:40139790A>C	ENST00000325157.6	-	7	1968	c.1718T>G	c.(1717-1719)cTt>cGt	p.L573R		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	573										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GATGACATTAAGTTCTTGGAT	0.433																																																	0													146	123	131					22																	40139790		2203	4300	6503	SO:0001583	missense	0			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.1718T>G	22.37:g.40139790A>C	ENSP00000317431:p.Leu573Arg		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.L573R	ENST00000325157.6	37	c.1718	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990693	0.35131	.	.	ENSG00000176177	ENST00000325157	T	0.37235	1.21	5.76	5.76	0.90799	.	0.175047	0.31427	N	0.007677	T	0.57489	0.2057	M	0.66939	2.045	0.29782	N	0.833959	D	0.89917	1.0	D	0.87578	0.998	T	0.61272	-0.7096	10	0.87932	D	0	-18.7054	12.4834	0.55856	1.0:0.0:0.0:0.0	.	573	Q8IYW4	ENTD1_HUMAN	R	573	ENSP00000317431:L573R	ENSP00000317431:L573R	L	-	2	0	ENTHD1	38469736	0.994000	0.37717	0.091000	0.20842	0.011000	0.07611	4.491000	0.60326	2.186000	0.69663	0.533000	0.62120	CTT	ENTHD1	-	NULL	ENSG00000176177		0.433	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	-	0	55	0	A	NM_152512		40139790	-1	tier1	-	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.502	C	C	40139790	A	C	40139790	3	2	138	1	0	0	0	0	1	0	0	0	5153	72	3	4	109	4	ENTHD1	22	40139790	Missense_Mutation	SNP	A	TCGA-Q9-A6FW-01A-31D-A31U-09	8398640	40139790	11164776	272	35434											
SREBF2	6721	genome.wustl.edu	37	chr22	42289188	42289188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttcctgactccctgcGctggctctgccaccccctgg	2	11	10	18	1	1	1	0	1	1	0	3	1	3	1	5	2	3	4	5	2	0	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr22:42289188G>A	ENST00000361204.4	+	12	2442	c.2276G>A	c.(2275-2277)cGc>cAc	p.R759H	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	759					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						GACTCCCTGCGCTGGCTCTGC	0.597																																																	0													65	66	66					22																	42289188		2203	4300	6503	SO:0001583	missense	0			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.2276G>A	22.37:g.42289188G>A	ENSP00000354476:p.Arg759His		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R759H	ENST00000361204.4	37	c.2276	CCDS14023.1	22	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144576	0.77888	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.08282	3.11	5.42	5.42	0.78866	.	0.047192	0.85682	D	0.000000	T	0.10165	0.0249	L	0.52126	1.63	0.80722	D	1	P	0.44521	0.837	B	0.34385	0.181	T	0.05954	-1.0854	10	0.49607	T	0.09	-21.8036	19.2386	0.93873	0.0:0.0:1.0:0.0	.	759	Q12772	SRBP2_HUMAN	H	759	ENSP00000354476:R759H	ENSP00000354476:R759H	R	+	2	0	SREBF2	40619134	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.615000	0.54167	2.543000	0.85770	0.650000	0.86243	CGC	SREBF2	-	NULL	ENSG00000198911		0.597	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1		0	40	0	G	NM_004599		42289188	1			no_errors	ENST00000361204	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A	A	42289188	G	A	42289188	3	1	138	1	0	0	0	0	1	0	0	0	15189	1087	38	1	2322	1	SREBF2	22	42289188	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	2149398	42289188	9015378	273	35435											
TCF20	6942	genome.wustl.edu	37	chr22	42607342	42607342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagggcagtttctactatCtggacttggaaggtccttgg	8	12	13	8	0	2	0	0	0	2	0	3	2	3	2	1	5	2	3	1	5	3	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr22:42607342C>T	ENST00000359486.3	-	1	4106	c.3970G>A	c.(3970-3972)Gat>Aat	p.D1324N	TCF20_ENST00000335626.4_Missense_Mutation_p.D1324N|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1324					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						TTTCTACTATCTGGACTTGGA	0.468																																																	0													135	136	136					22																	42607342		2203	4300	6503	SO:0001583	missense	0			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.3970G>A	22.37:g.42607342C>T	ENSP00000352463:p.Asp1324Asn		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.D1324N	ENST00000359486.3	37	c.3970	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615987	0.66672	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59364	0.27;0.27	5.28	5.28	0.74379	.	0.153421	0.44688	D	0.000436	T	0.65995	0.2745	L	0.43152	1.355	0.80722	D	1	D;D	0.63880	0.993;0.988	P;P	0.60789	0.879;0.76	T	0.57481	-0.7804	10	0.17832	T	0.49	-15.8456	19.0957	0.93249	0.0:1.0:0.0:0.0	.	1324;1324	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	N	1324	ENSP00000352463:D1324N;ENSP00000335561:D1324N	ENSP00000335561:D1324N	D	-	1	0	TCF20	40937286	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.244000	0.58728	2.755000	0.94549	0.655000	0.94253	GAT	TCF20	-	NULL	ENSG00000100207		0.468	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	-	0	42	0	C	NM_181492		42607342	-1	tier1	-	no_errors	ENST00000359486	ensembl	human	known	74_37	missense	8.06	57	5	SNP	1.000	T	T	42607342	C	T	42607342	3	4	138	1	0	0	0	0	1	0	0	0	15737	913	32	3	1950	3	TCF20	22	42607342	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	318154	42607342	8697224	274	35436											
SCO2	9997	genome.wustl.edu	37	chr22	50962128	50962128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccggccgtagtaatccGtgaagaggccgtcagggttg	7	9	15	10	4	1	2	1	1	0	1	3	2	3	2	4	3	1	4	4	3	3	3	rs149439760	byFrequency	TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chr22:50962128G>A	ENST00000543927.1	-	2	919	c.713C>T	c.(712-714)aCg>aTg	p.T238M	SCO2_ENST00000395693.3_Missense_Mutation_p.T238M|SCO2_ENST00000535425.1_Missense_Mutation_p.T238M|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000252785.3_Missense_Mutation_p.T238M	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	238	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTAGTAATCCGTGAAGAGGCC	0.587																																																	0								G	MET/THR,MET/THR,MET/THR,,MET/THR,	4,4402	8.1+/-20.4	0,4,2199	151	136	141		713,713,713,,713,	4	1	22	dbSNP_134	141	0,8600		0,0,4300	no	missense,missense,missense,utr-3,missense,utr-3	SCO2,NCAPH2	NM_001169109.1,NM_001169110.1,NM_001169111.1,NM_001185011.1,NM_005138.2,NM_152299.3	81,81,81,,81,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging,probably-damaging,,probably-damaging,	238/267,238/267,238/267,,238/267,	50962128	4,13002	2203	4300	6503	SO:0001583	missense	0			AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"Mitochondrial respiratory chain complex assembly factors"	10604	protein-coding gene	gene with protein product		604272	"SCO (cytochrome oxidase deficient, yeast) homolog 2", "SCO cytochrome oxidase deficient homolog 2 (yeast)", "myopia 6"	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.713C>T	22.37:g.50962128G>A	ENSP00000444433:p.Thr238Met		Q3T1B5|Q9UK87	Missense_Mutation	SNP	pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.T238M	ENST00000543927.1	37	c.713	CCDS14095.1	22	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036099	0.35893	9.08E-4	0.0	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.07	4.04	0.47022	Thioredoxin-like fold (3);	0.242826	0.29225	N	0.012773	D	0.88746	0.6520	N	0.26042	0.785	0.36995	D	0.894952	D	0.52996	0.957	P	0.46320	0.512	D	0.89940	0.4072	10	0.56958	D	0.05	-18.4396	9.3878	0.38354	0.1525:0.0:0.8475:0.0	.	238	O43819	SCO2_HUMAN	M	238	ENSP00000379046:T238M;ENSP00000444433:T238M;ENSP00000444242:T238M;ENSP00000252785:T238M	ENSP00000252785:T238M	T	-	2	0	SCO2	49308994	0.998000	0.40836	0.954000	0.39281	0.194000	0.23727	3.364000	0.52328	2.544000	0.85801	0.643000	0.83706	ACG	SCO2	-	pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	ENSG00000130489		0.587	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO2	HGNC	protein_coding	OTTHUMT00000317091.1	-	0	80	0	G	NM_005138		50962128	-1	tier1	rs149439760	no_errors	ENST00000252785	ensembl	human	known	74_37	missense	6.10	77	5	SNP	0.692	A	A	50962128	G	A	50962128	3	1	138	1	0	0	0	0	1	0	0	0	13977	1145	40	1	91	1	SCO2	22	50962128	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	8354786	50962128	342438	275	35437											
BTK	695	genome.wustl.edu	37	chrX	100614296	100614296	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttacctcttgctttagcagTtgctcagcctgactccgagt	6	14	8	13	1	2	1	1	1	1	0	3	2	3	1	3	0	5	4	3	0	2	5			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chrX:100614296T>C	ENST00000308731.7	-	10	1042	c.879A>G	c.(877-879)caA>caG	p.Q293Q	BTK_ENST00000372880.1_Silent_p.Q293Q	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	293	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCTTTAGCAGTTGCTCAGCCT	0.507									Agammaglobulinemia, X-linked																																								0													271	198	223					X																	100614296		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.879A>G	X.37:g.100614296T>C			B2RAW1|Q32ML5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.Q293	ENST00000308731.7	37	c.879	CCDS14482.1	X																																																																																			BTK	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000010671		0.507	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	HGNC	protein_coding	OTTHUMT00000057532.2	-	0	30	0	T	NM_000061		100614296	-1	tier1	-	no_errors	ENST00000308731	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.997	C	C	100614296	T	C	100614296	2	2	138	1	0	0	0	0	0	0	0	1	1561	1722	60	4		4	BTK	23	100614296	Silent	SNP	T	TCGA-Q9-A6FW-01A-31D-A31U-09		100614296	54656264	276	35438											
NXF2	728343	genome.wustl.edu	37	chrX	101615753	101615753	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctctagtgtagttcCactcattgtcctgaaggcac	8	11	10	12	0	2	1	1	1	1	0	4	1	4	1	3	2	1	4	3	2	3	4			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chrX:101615753C>T	ENST00000372750.1	-	26	2595	c.1796G>A	c.(1795-1797)tGg>tAg	p.W599*	NXF2B_ENST00000372749.1_Nonsense_Mutation_p.W599*|NXF2B_ENST00000372752.1_3'UTR|NXF2B_ENST00000457521.2_Nonsense_Mutation_p.W599*|NXF2B_ENST00000412230.2_Nonsense_Mutation_p.W599*			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	599	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						AGTGTAGTTCCACTCATTGTC	0.537																																																	0													5	4	5					X																	101615753		1630	2648	4278	SO:0001587	stop_gained	0				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.1796G>A	X.37:g.101615753C>T	ENSP00000361836:p.Trp599*		Q9BXU4|Q9NSS1|Q9NX66	Nonsense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.W599*	ENST00000372750.1	37	c.1796	CCDS43979.1	X	.	.	.	.	.	.	.	.	.	.	.	39	7.328976	0.98214	.	.	ENSG00000185945	ENST00000457521;ENST00000372749;ENST00000372750;ENST00000412230	.	.	.	2.45	2.45	0.29901	.	0.000000	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0023	10.1883	0.43011	0.0:1.0:0.0:0.0	.	.	.	.	X	599	.	ENSP00000361835:W599X	W	-	2	0	NXF2B	101502409	1.000000	0.71417	0.383000	0.26132	0.949000	0.60115	6.285000	0.72658	1.507000	0.48752	0.502000	0.49764	TGG	NXF2B	-	pfam_TAP_C_dom,superfamily_UBA-like,smart_TAP_C_dom	ENSG00000185945		0.537	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2B	HGNC	protein_coding	OTTHUMT00000058979.1	-	0	28	0	C			101615753	-1	tier1	-	no_errors	ENST00000372749	ensembl	human	known	74_37	nonsense	15.00	17	3	SNP	1.000	T	T	101615753	C	T	101615753	4	4	138	1	0	0	0	0	0	1	0	0	10822	595	21	3	2057	3	NXF2	23	101615753	Nonsense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	1001457	101615753	53654807	277	35439											
KIAA1210	57481	genome.wustl.edu	37	chrX	118223626	118223626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattggatagccctgactccGagaagcatcagtgtttggag	10	10	12	9	1	1	2	1	1	0	1	2	5	2	4	2	2	2	2	2	2	2	3	rs201877365		TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chrX:118223626G>A	ENST00000402510.2	-	11	1566	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	523								p.R347W(1)|p.R523W(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCCTGACTCCGAGAAGCATCA	0.433																																																	2	Substitution - Missense(2)	prostate(2)						G	TRP/ARG	4,3681		0,3,1,1554,570	253	243	246		1567	1.5	0	X		246	0,6637		0,0,0,2399,1839	yes	missense	KIAA1210	NM_020721.1	101	0,3,1,3953,2409	AA,AG,A,GG,G		0.0,0.1085,0.0388	benign	523/1710	118223626	4,10318	2128	4238	6366	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1567C>T	X.37:g.118223626G>A	ENSP00000384670:p.Arg523Trp		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.R523W	ENST00000402510.2	37	c.1567	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	9.342	1.063226	0.19987	0.001085	0.0	ENSG00000250423	ENST00000402510	T	0.10573	2.86	4.35	1.55	0.23275	.	.	.	.	.	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39165	-0.9627	9	0.51188	T	0.08	.	2.9111	0.05737	0.1832:0.5354:0.1751:0.1063	.	523	Q9ULL0	K1210_HUMAN	W	523	ENSP00000384670:R523W	ENSP00000384670:R523W	R	-	1	2	RP13-347D8.6	118107654	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.511000	0.06321	0.074000	0.16767	-0.385000	0.06624	CGG	KIAA1210	-	NULL	ENSG00000250423		0.433	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	-	0	70	0	G	NM_020721		118223626	-1	tier1	rs201877365	no_errors	ENST00000402510	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	A	A	118223626	G	A	118223626	3	1	138	1	0	0	0	0	1	0	0	0	8241	1057	37	1	3578	1	KIAA1210	23	118223626	Missense_Mutation	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	16607873	118223626	37046934	278	35440											
MAGEC3	139081	genome.wustl.edu	37	chrX	140984912	140984912	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgcccaggtatgccctGgatgaaaaggtggctgagtt	8	11	13	9	0	0	2	0	2	0	0	1	3	1	3	3	4	2	3	3	4	3	3			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chrX:140984912G>A	ENST00000298296.1	+	7	1368	c.1368G>A	c.(1366-1368)ctG>ctA	p.L456L	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Silent_p.L78L|MAGEC3_ENST00000544766.1_Silent_p.L158L|MAGEC3_ENST00000409007.1_Silent_p.L158L|MAGEC3_ENST00000536088.1_Silent_p.L158L	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	456	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGTATGCCCTGGATGAAAAGG	0.483																																																	0													78	72	74					X																	140984912		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1368G>A	X.37:g.140984912G>A			Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L456	ENST00000298296.1	37	c.1368	CCDS14676.1	X																																																																																			MAGEC3	-	pfscan_MAGE	ENSG00000165509		0.483	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1		0	40	0	G	NM_138702		140984912	1			no_errors	ENST00000298296	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.001	A	A	140984912	G	A	140984912	2	1	138	1	0	0	0	0	0	0	0	1	9220	1335	47	3		3	MAGEC3	23	140984912	Silent	SNP	G	TCGA-Q9-A6FW-01A-31D-A31U-09	22761286	140984912	14285648	279	35441											
FLNA	2316	genome.wustl.edu	37	chrX	153588526	153588526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgtgcgtgccatcacCgtggtcctggatgtacacct	7	11	12	11	2	1	0	1	0	0	0	2	1	2	1	4	3	3	1	4	3	2	1			TCGA-Q9-A6FW-01A-31D-A31U-09	TCGA-Q9-A6FW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bd8ca45f-20bb-436a-a6a2-352ecab2a6f9	dc525144-6ff0-4091-af35-bce44d680e37	g.chrX:153588526C>T	ENST00000369850.3	-	22	3873	c.3637G>A	c.(3637-3639)Ggt>Agt	p.G1213S	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.G1213S|FLNA_ENST00000422373.1_Missense_Mutation_p.G1213S|FLNA_ENST00000344736.4_Missense_Mutation_p.G1213S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1213					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)					GTGCCATCACCGTGGTCCTGG	0.642																																																	0													43	51	48					X																	153588526		2106	4195	6301	SO:0001583	missense	0			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.3637G>A	X.37:g.153588526C>T	ENSP00000358866:p.Gly1213Ser		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G1213S	ENST00000369850.3	37	c.3637	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906078	0.33628	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-1.89	4.79	4.79	0.61399	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90181	0.6931	L	0.47190	1.495	0.80722	D	1	D;B	0.54772	0.968;0.094	P;B	0.48270	0.572;0.053	D	0.89307	0.3630	10	0.41790	T	0.15	.	11.0924	0.48123	0.0:0.8989:0.0:0.1011	.	1213;1213	P21333-2;P21333	.;FLNA_HUMAN	S	1213;1186;1213;1213;1213	ENSP00000353467:G1213S;ENSP00000416926:G1213S;ENSP00000358866:G1213S;ENSP00000358863:G1213S	ENSP00000358863:G1213S	G	-	1	0	FLNA	153241720	0.001000	0.12720	0.992000	0.48379	0.315000	0.28087	1.157000	0.31724	1.978000	0.57642	0.431000	0.28591	GGT	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	-	0	33	0	C			153588526	-1	tier1	-	no_errors	ENST00000369850	ensembl	human	known	74_37	missense	34.48	19	10	SNP	1.000	T	T	153588526	C	T	153588526	3	4	138	1	0	0	0	0	1	0	0	0	5955	652	23	1	4414	1	FLNA	23	153588526	Missense_Mutation	SNP	C	TCGA-Q9-A6FW-01A-31D-A31U-09	12603614	153588526	1682034	280	35442											
TNFRSF25	8718	genome.wustl.edu	37	chr1	6521717	6521717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaactccttccagcgccgcGctgggaccgcgtccatcacg	6	6	11	18	7	1	0	1	0	0	0	4	2	4	1	5	1	2	1	5	1	1	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:6521717G>A	ENST00000356876.3	-	10	1118	c.1031C>T	c.(1030-1032)gCg>gTg	p.A344V	TNFRSF25_ENST00000351748.3_Missense_Mutation_p.A161V|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.A307V|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.A299V|TNFRSF25_ENST00000377782.3_Missense_Mutation_p.A353V|TNFRSF25_ENST00000461703.2_5'Flank	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	344	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|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)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGCGCCGCGCTGGGACCGC	0.697																																																	0													14	14	14					1																	6521717		2200	4298	6498	SO:0001583	missense	0			U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"Tumor necrosis factor receptor superfamily"	11910	protein-coding gene	gene with protein product		603366	"tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.1031C>T	1.37:g.6521717G>A	ENSP00000349341:p.Ala344Val		B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.A353V	ENST00000356876.3	37	c.1058	CCDS71.1	1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946439	0.53186	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000351748;ENST00000348333	D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92	5.14	2.28	0.28536	Death (3);DEATH-like (2);	0.000000	0.36893	U	0.002351	T	0.62282	0.2415	N	0.01048	-1.04	0.29137	N	0.879238	D;P;P;D;P;D	0.61697	0.982;0.939;0.952;0.961;0.952;0.99	P;B;B;P;B;P	0.50791	0.542;0.315;0.274;0.525;0.39;0.65	T	0.66642	-0.5872	10	0.02654	T	1	-12.4417	7.2959	0.26393	0.4355:0.0:0.5645:0.0	.	353;299;307;344;345;161	Q93038-11;Q93038-9;Q93038-10;Q93038;Q93038-2;Q93038-8	.;.;.;TNR25_HUMAN;.;.	V	344;353;307;161;299	ENSP00000349341:A344V;ENSP00000367013:A353V;ENSP00000337713:A307V;ENSP00000326762:A161V;ENSP00000314451:A299V	ENSP00000314451:A299V	A	-	2	0	TNFRSF25	6444304	0.630000	0.27155	0.666000	0.29783	0.449000	0.32228	1.975000	0.40569	0.201000	0.20466	0.650000	0.86243	GCG	TNFRSF25	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000215788		0.697	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF25	HGNC	protein_coding	OTTHUMT00000002259.1	-	0	21	0	G	NM_148965		6521717	-1	tier1	-	no_errors	ENST00000377782	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.741	A	A	6521717	G	A	6521717	3	1	139	1	0	0	0	0	1	0	0	0	16343	1087	38	1	226	1	TNFRSF25	1	6521717	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09		6521717	242728904	1	35443											
EPHA10	284656	genome.wustl.edu	37	chr1	38197200	38197200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agccggcttcaggttggtgaCggtgactgtgggcgcccctg	4	9	17	11	3	1	2	1	2	0	0	1	2	1	2	3	5	1	2	3	5	0	2	rs375016026		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:38197200C>T	ENST00000373048.4	-	7	1545	c.1546G>A	c.(1546-1548)Gtc>Atc	p.V516I	EPHA10_ENST00000540011.1_Missense_Mutation_p.V11I|EPHA10_ENST00000330210.7_Missense_Mutation_p.V11I|EPHA10_ENST00000427468.2_Missense_Mutation_p.V516I|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	516	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				AGGTTGGTGACGGTGACTGTG	0.597																																																	0								C	ILE/VAL	1,3893		0,1,1946	107	108	108		1546	4.8	1	1		108	0,8288		0,0,4144	no	missense	EPHA10	NM_001099439.1	29	0,1,6090	TT,TC,CC		0.0,0.0257,0.0082	possibly-damaging	516/1009	38197200	1,12181	1947	4144	6091	SO:0001583	missense	0			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.1546G>A	1.37:g.38197200C>T	ENSP00000362139:p.Val516Ile		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.V516I	ENST00000373048.4	37	c.1546	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	C	5.735	0.320141	0.10845	2.57E-4	0.0	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.76839	-1.05;0.28;-1.05;0.28	4.77	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38778	N	0.001566	T	0.67822	0.2934	L	0.31420	0.93	0.30957	N	0.72404	P	0.45986	0.87	B	0.40134	0.32	T	0.70528	-0.4847	9	.	.	.	.	16.5064	0.84273	0.0:1.0:0.0:0.0	.	516	Q5JZY3	EPHAA_HUMAN	I	11;516;11;516	ENSP00000330379:V11I;ENSP00000397746:V516I;ENSP00000441822:V11I;ENSP00000362139:V516I	.	V	-	1	0	EPHA10	37969787	0.855000	0.29742	0.980000	0.43619	0.310000	0.27922	1.549000	0.36212	2.459000	0.83118	0.563000	0.77884	GTC	EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000183317		0.597	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2		0	38	0	C	NM_173641		38197200	-1			no_errors	ENST00000427468	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.982	T	T	38197200	C	T	38197200	3	4	139	1	0	0	0	0	1	0	0	0	5182	536	19	1	1524	1	EPHA10	1	38197200	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	31675483	38197200	211053421	2	35444											
C1orf175	374977	genome.wustl.edu	37	chr1	55134607	55134607	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaccatgataaagaagatTatggtgggggagccacaggc	15	6	14	6	0	0	4	0	1	0	3	0	5	0	5	2	4	1	0	2	4	5	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:55134607T>G	ENST00000421030.2	+	5	1671	c.1386T>G	c.(1384-1386)atT>atG	p.I462M	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.I462M|MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000545244.1_Missense_Mutation_p.I30M|MROH7_ENST00000339553.5_Missense_Mutation_p.I462M|MROH7_ENST00000409996.1_Missense_Mutation_p.I30M|MROH7_ENST00000395690.2_Missense_Mutation_p.I462M	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	462						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TAAAGAAGATTATGGTGGGGG	0.572																																																	0													52	52	52					1																	55134607		1850	4088	5938	SO:0001583	missense	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1386T>G	1.37:g.55134607T>G	ENSP00000396622:p.Ile462Met		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I462M	ENST00000421030.2	37	c.1386	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	T	9.671	1.146704	0.21288	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000395690	T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5	5.41	3.53	0.40419	Armadillo-like helical (1);	0.490245	0.20326	N	0.094531	T	0.01765	0.0056	N	0.01352	-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	0.37126	-0.9719	10	0.02654	T	1	.	7.3483	0.26676	0.088:0.0:0.7454:0.1666	.	462;462;30	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	M	462;30;487;462;30;462	ENSP00000396622:I462M;ENSP00000442333:I30M;ENSP00000343211:I462M;ENSP00000387048:I30M;ENSP00000379044:I462M	ENSP00000343211:I462M	I	+	3	3	HEATR8	54907195	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	1.383000	0.34385	1.270000	0.44297	-0.247000	0.11927	ATT	MROH7-TTC4	-	superfamily_ARM-type_fold	ENSG00000271723		0.572	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1		0	49	0	T	NM_198547		55134607	1			no_errors	ENST00000414150	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	G	G	55134607	T	G	55134607	3	3	139	1	0	0	0	0	1	0	0	0	2023	1742	61	4	1396	4	C1orf175	1	55134607	Missense_Mutation	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09	16937407	55134607	194116014	3	35445											
C1orf168	199920	genome.wustl.edu	37	chr1	57216857	57216857	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcatctgaattttttcaggtGtcccttcacaggcatctacc	8	15	6	12	0	5	1	3	1	2	0	6	1	6	1	2	2	1	1	2	2	2	5	rs528999910		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:57216857G>T	ENST00000343433.6	-	9	1327	c.1247C>A	c.(1246-1248)aCa>aAa	p.T416K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	416										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						TTTTTCAGGTGTCCCTTCACA	0.428																																																	0													105	91	96					1																	57216857		2203	4300	6503	SO:0001583	missense	0			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.1247C>A	1.37:g.57216857G>T	ENSP00000345972:p.Thr416Lys		Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3_domain	p.T416K	ENST00000343433.6	37	c.1247	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576550	0.45902	.	.	ENSG00000187889	ENST00000343433	T	0.32753	1.44	3.91	1.96	0.26148	.	0.434165	0.20063	N	0.100035	T	0.29423	0.0733	L	0.27053	0.805	0.09310	N	1	D	0.61080	0.989	P	0.55923	0.787	T	0.05209	-1.0899	10	0.54805	T	0.06	-2.2171	5.8991	0.18955	0.2506:0.0:0.7494:0.0	.	416	Q5VWT5	CA168_HUMAN	K	416	ENSP00000345972:T416K	ENSP00000345972:T416K	T	-	2	0	C1orf168	56989445	0.016000	0.18221	0.013000	0.15412	0.125000	0.20455	0.477000	0.22196	0.561000	0.29186	0.650000	0.86243	ACA	C1orf168	-	NULL	ENSG00000187889		0.428	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	-	0	33	0	G	NM_001004303		57216857	-1	tier1	-	no_errors	ENST00000343433	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.018	T	T	57216857	G	T	57216857	3	4	139	1	0	0	0	0	1	0	0	0	2019	1377	48	3	987	3	C1orf168	1	57216857	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	2082250	57216857	192033764	4	35446											
CNN3	1266	genome.wustl.edu	37	chr1	95369076	95369076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgatgatcatacttggaaGcaatctgaaatacaggttaa	15	11	8	7	0	2	3	1	3	1	0	2	4	2	4	1	2	3	2	1	2	6	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:95369076G>T	ENST00000370206.4	-	2	445	c.62C>A	c.(61-63)gCt>gAt	p.A21D	CNN3_ENST00000538964.1_Missense_Mutation_p.A21D|CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000394202.4_Missense_Mutation_p.A21D|CNN3_ENST00000487539.1_5'Flank	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	21				A -> S (in Ref. 2; BAG60421). {ECO:0000305}.	actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		ATACTTGGAAGCAATCTGAAA	0.443																																																	0													102	96	98					1																	95369076		2203	4300	6503	SO:0001583	missense	0			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.62C>A	1.37:g.95369076G>T	ENSP00000359225:p.Ala21Asp		B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.A21D	ENST00000370206.4	37	c.62	CCDS30775.1	1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856778	0.71834	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202	T;T;T	0.59083	0.29;0.29;0.29	5.85	5.85	0.93711	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	M	0.63208	1.945	0.80722	D	1	P;D	0.63880	0.866;0.993	P;D	0.76575	0.591;0.988	T	0.58399	-0.7643	10	0.19147	T	0.46	-8.0495	20.1649	0.98147	0.0:0.0:1.0:0.0	.	21;21	F8WA86;Q15417	.;CNN3_HUMAN	D	21	ENSP00000359225:A21D;ENSP00000437665:A21D;ENSP00000377752:A21D	ENSP00000359225:A21D	A	-	2	0	CNN3	95141664	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.860000	0.99555	2.753000	0.94483	0.655000	0.94253	GCT	CNN3	-	superfamily_CH-domain	ENSG00000117519		0.443	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN3	HGNC	protein_coding	OTTHUMT00000029702.2	-	0	60	0	G	NM_001839		95369076	-1	tier1	-	no_errors	ENST00000370206	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T	T	95369076	G	T	95369076	3	4	139	1	0	0	0	0	1	0	0	0	3618	971	34	3	951	3	CNN3	1	95369076	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	38152219	95369076	153881545	5	35447											
TTC24	164118	genome.wustl.edu	37	chr1	156552116	156552116	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggccctgcccctgtgctGggtgccaggagagcaggcca	6	5	16	14	0	0	1	0	0	0	1	0	2	0	1	5	4	4	3	5	4	0	0			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:156552116G>A	ENST00000368237.3	+	2	800	c.800G>A	c.(799-801)tGg>tAg	p.W267*	TTC24_ENST00000368236.3_Nonsense_Mutation_p.W267*			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	267										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)					CCCCTGTGCTGGGTGCCAGGA	0.622																																																	0													27	27	27					1																	156552116		1911	4125	6036	SO:0001587	stop_gained	0				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.800G>A	1.37:g.156552116G>A	ENSP00000357220:p.Trp267*		Q5T3H7	Nonsense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W267*	ENST00000368237.3	37	c.800	CCDS53379.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.79|14.79	2.641316|2.641316	0.47153|0.47153	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000340086;ENST00000413282|ENST00000368236;ENST00000368237	.|.	.|.	.|.	4.31|4.31	-1.84|-1.84	0.07809|0.07809	.|.	.|0.899981	.|0.09314	.|N	.|0.819139	T|.	0.11836|.	0.0288|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29731|.	-1.0002|.	3|.	.|.	.|.	.|.	-2.1308|-2.1308	4.6689|4.6689	0.12680|0.12680	0.4757:0.0:0.3785:0.1457|0.4757:0.0:0.3785:0.1457	.|.	.|.	.|.	.|.	R|X	40;32|267	.|.	.|.	G|W	+|+	1|2	0|0	TTC24|TTC24	154818740|154818740	0.000000|0.000000	0.05858|0.05858	0.350000|0.350000	0.25708|0.25708	0.481000|0.481000	0.33189|0.33189	-1.119000|-1.119000	0.03276|0.03276	-0.181000|-0.181000	0.10619|0.10619	0.407000|0.407000	0.27541|0.27541	GGG|TGG	TTC24	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000187862		0.622	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC24	HGNC	protein_coding	OTTHUMT00000158547.1	-	0	39	0	G	XM_089384		156552116	1	tier1	-	no_errors	ENST00000368236	ensembl	human	known	74_37	nonsense	55.56	20	25	SNP	0.125	A	A	156552116	G	A	156552116	4	1	139	1	0	0	0	0	0	1	0	0	16741	1357	47	3	806	3	TTC24	1	156552116	Nonsense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	61183040	156552116	92698505	6	35448											
NCSTN	23385	genome.wustl.edu	37	chr1	160322740	160322740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagggcaagtttcccGtgcagttagagaatgttgac	11	10	14	6	1	0	3	0	1	0	2	1	5	1	3	1	2	1	5	1	2	4	3	rs11547484		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:160322740G>A	ENST00000294785.5	+	9	1185	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.V334M|NCSTN_ENST00000368063.1_Missense_Mutation_p.V334M|NCSTN_ENST00000535857.1_Missense_Mutation_p.V216M|NCSTN_ENST00000368065.4_Missense_Mutation_p.V96M	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	354					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|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)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGTTTCCCGTGCAGTTAGA	0.483																																																	0													134	102	113					1																	160322740		2203	4300	6503	SO:0001583	missense	0			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1060G>A	1.37:g.160322740G>A	ENSP00000294785:p.Val354Met		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	pfam_Nicastrin	p.V354M	ENST00000294785.5	37	c.1060	CCDS1203.1	1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211286	0.58343	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000421914;ENST00000535857;ENST00000392212;ENST00000368065;ENST00000424754	T;T;T;T;T	0.79352	-1.26;-1.25;-0.14;-0.27;-1.25	5.65	3.79	0.43588	.	0.193976	0.44285	D	0.000474	T	0.73273	0.3566	L	0.53780	1.695	0.48341	D	0.999633	D;D;D	0.71674	0.998;0.982;0.997	P;P;P	0.59643	0.861;0.454;0.766	T	0.74041	-0.3792	10	0.48119	T	0.1	-7.2611	7.7146	0.28698	0.1511:0.1351:0.7137:0.0	rs11547484	216;334;354	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	M	354;334;216;216;334;96;98	ENSP00000294785:V354M;ENSP00000357042:V334M;ENSP00000390409:V216M;ENSP00000442605:V216M;ENSP00000376047:V334M	ENSP00000294785:V354M	V	+	1	0	NCSTN	158589364	0.365000	0.25006	0.998000	0.56505	0.982000	0.71751	0.579000	0.23788	0.745000	0.32763	0.655000	0.94253	GTG	NCSTN	-	pfam_Nicastrin	ENSG00000162736		0.483	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	-	0	76	0	G	NM_015331		160322740	1	tier1	rs11547484	no_errors	ENST00000294785	ensembl	human	known	74_37	missense	29.00	71	29	SNP	1.000	A	A	160322740	G	A	160322740	3	1	139	1	0	0	0	0	1	0	0	0	10280	1145	40	1	1094	1	NCSTN	1	160322740	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	3770624	160322740	88927881	7	35449											
FCGR2B	2213	genome.wustl.edu	37	chr1	161641441	161641441	+	Splice_Site	SNP	T	T	C	0	1	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	catctgactgtgctttctggTcagtggaggaaggccccagg	7	10	14	10	0	3	1	1	1	2	0	3	3	3	3	2	5	1	1	2	5	1	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:161641441T>C	ENST00000358671.5	+	3	472		c.e3+2		FCGR2B_ENST00000236937.9_Splice_Site|FCGR2B_ENST00000367962.4_Splice_Site|FCGR2B_ENST00000367960.5_Splice_Site|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000403078.3_Splice_Site|FCGR2B_ENST00000367961.4_Splice_Site|FCGR2B_ENST00000428605.2_Splice_Site	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						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)|Antithymocyte globulin(DB00098)|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)	TGCTTTCTGGTCAGTGGAGGA	0.597			T	?	ALL																																			Dom	yes		1	1q23	2213	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"		L	0													39	40	40					1																	161641441		2203	4298	6501	SO:0001630	splice_region_variant	0			BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3618	protein-coding gene	gene with protein product		604590	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.391+2T>C	1.37:g.161641441T>C			A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Splice_Site	SNP	-	e3+2	ENST00000358671.5	37	c.391+2	CCDS30924.1	1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.176798	0.38413	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2477	0.43352	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FCGR2B	159908065	1.000000	0.71417	0.991000	0.47740	0.432000	0.31715	2.432000	0.44784	1.674000	0.50907	0.379000	0.24179	.	FCGR2B	-	-	ENSG00000072694		0.597	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	FCGR2B	HGNC	protein_coding	OTTHUMT00000083337.4	-	0	81	0	T	NM_004001	Intron	161641441	1	tier1	-	no_errors	ENST00000358671	ensembl	human	known	74_37	splice_site	39.44	86	56	SNP	0.995	C	C	161641441	T	C	161641441	5	2	139	1	0	0	0	0	0	0	1	0	5804	1681	58	4	403	4	FCGR2B	1	161641441	Splice_Site	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09	1318701	161641441	87609180	8	35450											
IGFN1	91156	genome.wustl.edu	37	chr1	201181673	201181673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctagggtctggatatgaacGggacatctggaaagcaggcc	11	8	14	8	1	3	1	0	1	3	0	3	4	3	4	1	5	2	1	1	5	4	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	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	0			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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R2551Q	ENST00000335211.4	37	c.7652	CCDS53455.1	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	IGFN1	-	NULL	ENSG00000163395		0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		-	0	80	0	G	NM_178275		201181673	1	tier1	-	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.000	A	A	201181673	G	A	201181673	3	1	139	1	0	0	0	0	1	0	0	0	7617	1116	39	1	7694	1	IGFN1	1	201181673	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	39540232	201181673	48068948	9	35451											
PCNXL2	80003	genome.wustl.edu	37	chr1	233394952	233394952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattgatgagagtttctgtgGcaactggttttacaggtatt	9	16	11	5	0	1	2	0	2	1	1	1	3	1	2	0	3	2	4	0	3	3	6			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:233394952G>T	ENST00000258229.9	-	5	890	c.656C>A	c.(655-657)gCc>gAc	p.A219D	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	219						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGTTTCTGTGGCAACTGGTTT	0.502																																																	0													117	119	119					1																	233394952		1961	4156	6117	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.656C>A	1.37:g.233394952G>T	ENSP00000258229:p.Ala219Asp		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.A219D	ENST00000258229.9	37	c.656	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369513	0.24771	.	.	ENSG00000135749	ENST00000258229	T	0.63417	-0.04	4.38	-0.187	0.13268	.	.	.	.	.	T	0.40119	0.1104	N	0.19112	0.55	0.09310	N	0.999999	B	0.32245	0.361	B	0.26416	0.069	T	0.20505	-1.0273	9	0.54805	T	0.06	.	5.7782	0.18292	0.3252:0.1435:0.5313:0.0	.	219	A6NKB5	PCX2_HUMAN	D	219	ENSP00000258229:A219D	ENSP00000258229:A219D	A	-	2	0	PCNXL2	231461575	0.001000	0.12720	0.000000	0.03702	0.070000	0.16714	1.033000	0.30191	-0.126000	0.11682	0.561000	0.74099	GCC	PCNXL2	-	NULL	ENSG00000135749		0.502	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3		0	59	0	G	NM_014801		233394952	-1			no_errors	ENST00000258229	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.000	T	T	233394952	G	T	233394952	3	4	139	1	0	0	0	0	1	0	0	0	11631	1203	42	3	5877	3	PCNXL2	1	233394952	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	32213279	233394952	15855669	10	35452											
EXO1	9156	genome.wustl.edu	37	chr1	242052807	242052807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtaagaaacccctgtccCcagtcagagataacatccaa	14	8	6	13	0	1	2	1	0	0	2	3	3	3	2	5	0	2	1	5	0	4	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:242052807C>A	ENST00000366548.3	+	16	3039	c.2446C>A	c.(2446-2448)Cca>Aca	p.P816T	EXO1_ENST00000518483.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.P816T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	816	Interaction with MLH1.|Interaction with MSH2.				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)	p.P816T(1)		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)			ACCCCTGTCCCCAGTCAGAGA	0.363								Editing and processing nucleases																																									1	Substitution - Missense(1)	large_intestine(1)											87	89	88					1																	242052807		2203	4300	6503	SO:0001583	missense	0			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.2446C>A	1.37:g.242052807C>A	ENSP00000355506:p.Pro816Thr		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.P816T	ENST00000366548.3	37	c.2446	CCDS1620.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.88|19.88	3.909106|3.909106	0.72868|0.72868	.|.	.|.	ENSG00000174371|ENSG00000174371	ENST00000521202|ENST00000366548;ENST00000348581	.|T;T	.|0.58210	.|0.35;0.35	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.72366|0.72366	0.3451|0.3451	M|M	0.69823|0.69823	2.125|2.125	0.45108|0.45108	D|D	0.998128|0.998128	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	T|T	0.74680|0.74680	-0.3584|-0.3584	6|10	.|0.87932	.|D	.|0	-26.1007|-26.1007	16.7056|16.7056	0.85371|0.85371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|815;816	.|A8K5H6;Q9UQ84	.|.;EXO1_HUMAN	H|T	180|816	.|ENSP00000355506:P816T;ENSP00000311873:P816T	.|ENSP00000311873:P816T	P|P	+|+	2|1	0|0	EXO1|EXO1	240119430|240119430	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.761000|0.761000	0.43186|0.43186	4.434000|4.434000	0.59935|0.59935	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	CCC|CCA	EXO1	-	NULL	ENSG00000174371		0.363	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXO1	HGNC	protein_coding	OTTHUMT00000096405.1		0	59	0	C	NM_006027		242052807	1			no_errors	ENST00000348581	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	242052807	C	A	242052807	3	1	139	1	0	0	0	0	1	0	0	0	5316	623	22	3	2496	3	EXO1	1	242052807	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	8657855	242052807	7197814	11	35453											
OR2L3	391192	genome.wustl.edu	37	chr1	248224767	248224767	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacacttatctacgtccaAgatccctgcgatctccaaca	11	11	4	15	2	3	1	0	0	3	1	6	2	5	1	3	0	4	0	3	0	5	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:248224767A>C	ENST00000359959.3	+	1	784	c.784A>C	c.(784-786)Aga>Cga	p.R262R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTACGTCCAAGATCCCTGCG	0.493																																																	0													111	105	107					1																	248224767		2203	4297	6500	SO:0001819	synonymous_variant	0			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.784A>C	1.37:g.248224767A>C			B9EH44	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R262	ENST00000359959.3	37	c.784	CCDS31104.1	1																																																																																			OR2L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198128		0.493	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	-	0	111	0	A	NM_001004687		248224767	1	tier1	-	no_errors	ENST00000359959	ensembl	human	known	74_37	silent	88.10	10	74	SNP	0.000	C	C	248224767	A	C	248224767	2	2	139	1	0	0	0	0	0	0	0	1	11047	64	3	4		4	OR2L3	1	248224767	Silent	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09	6171960	248224767	1025854	12	35454											
EPAS1	2034	genome.wustl.edu	37	chr2	46583907	46583907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgacttcactcatccctgCgaccatgaggagattcgtga	9	12	9	11	2	2	4	2	3	0	1	4	6	3	4	2	1	1	0	2	1	0	3	rs374636224		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:46583907C>T	ENST00000263734.3	+	4	924	c.414C>T	c.(412-414)tgC>tgT	p.C138C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	138	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCATCCCTGCGACCATGAGG	0.443																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	151	143	146		414	-2.8	1	2		146	0,8600		0,0,4300	no	coding-synonymous	EPAS1	NM_001430.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		138/871	46583907	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.414C>T	2.37:g.46583907C>T			Q86VA2|Q99630	Silent	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.C138	ENST00000263734.3	37	c.414	CCDS1825.1	2																																																																																			EPAS1	-	pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS,tigrfam_PAS	ENSG00000116016		0.443	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	-	0	64	0	C	NM_001430		46583907	1	tier1	-	no_errors	ENST00000263734	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.981	T	T	46583907	C	T	46583907	2	4	139	1	0	0	0	0	0	0	0	1	5166	776	27	1		1	EPAS1	2	46583907	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09		46583907	196615466	13	35455											
FBXO11	80204	genome.wustl.edu	37	chr2	48132691	48132693	+	In_Frame_Del	DEL	GCT	GCT	-																															cggcggtggcggcggcggagGctgctgctgctgctgctgct																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:48132691_48132693delGCT	ENST00000403359.3	-	1	239_241	c.167_169delAGC	c.(166-171)cagcct>cct	p.Q56del	FBXO11_ENST00000316377.4_5'UTR|FBXO11_ENST00000378314.3_5'UTR|AC079807.2_ENST00000432064.1_RNA|AC079807.2_ENST00000439870.1_RNA|AC079807.2_ENST00000417692.1_RNA	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	56					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)			ggcggcggAggctgctgctgctg	0.783			"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)																																								SO:0001651	inframe_deletion	0			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.167_169delAGC	2.37:g.48132700_48132702delGCT	ENSP00000384823:p.Gln56del		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	In_Frame_Del	DEL	pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.Q56in_frame_del	ENST00000403359.3	37	c.169_167	CCDS54357.1	2																																																																																			FBXO11	-	NULL	ENSG00000138081		0.783	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3		0	8	0	GCT	NM_012167, NM_018693, NM_025133		48132693	-1			no_errors	ENST00000403359	ensembl	human	known	74_37	in_frame_del	22.22	7	2	DEL	0.983:0.981:0.972	0	-	48132693	GCT	-	48132691	7	5	139	1	0	1	0	1	0	0	0	0	5749	1203	42	0	2796	0	FBXO11	2	48132691	In_Frame_Del	DEL	GCT	TCGA-R6-A6DN-01B-11D-A31U-09	1548784	48132691	195066682	14	35456											
LHCGR	3973	genome.wustl.edu	37	chr2	48925917	48925917	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatagctcggcagggcctGcaatttggtggaagaaatat	11	9	13	8	1	0	1	0	0	0	1	1	2	0	2	2	4	2	3	2	4	5	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:48925917G>A	ENST00000294954.7	-	9	724	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	LHCGR_ENST00000401907.1_Nonsense_Mutation_p.Q235*|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Q235*|LHCGR_ENST00000403273.1_Nonsense_Mutation_p.Q235*|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	235					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)	GGCAGGGCCTGCAATTTGGTG	0.378																																																	0													63	66	65					2																	48925917		2203	4300	6503	SO:0001587	stop_gained	0				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.703C>T	2.37:g.48925917G>A	ENSP00000294954:p.Gln235*		Q14751|Q15996|Q9UEW9	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.Q235*	ENST00000294954.7	37	c.703	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.314907	0.95655	.	.	ENSG00000138039	ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907	.	.	.	5.87	4.98	0.66077	.	0.257437	0.43416	D	0.000571	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8002	0.57582	0.0:0.3404:0.6596:0.0	.	.	.	.	X	235	.	.	Q	-	1	0	LHCGR	48779421	0.794000	0.28838	1.000000	0.80357	0.995000	0.86356	2.073000	0.41519	2.778000	0.95560	0.650000	0.86243	CAG	LHCGR	-	NULL	ENSG00000138039		0.378	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	-	0	67	0	G	NM_000233.3		48925917	-1	tier1	-	no_errors	ENST00000294954	ensembl	human	known	74_37	nonsense	51.85	13	14	SNP	1.000	A	A	48925917	G	A	48925917	4	1	139	1	0	0	0	0	0	1	0	0	8791	1328	46	3	1408	3	LHCGR	2	48925917	Nonsense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	793226	48925917	194273456	15	35457											
DNAH6	1768	genome.wustl.edu	37	chr2	84785000	84785000	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacctgtggaactgggccaAgtttagcagcagtatttgag	12	10	12	7	0	0	1	0	1	0	0	0	2	0	2	2	2	4	4	2	2	5	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:84785000A>C	ENST00000237449.6	+	10	1752	c.1744A>C	c.(1744-1746)Agt>Cgt	p.S582R	DNAH6_ENST00000389394.3_Missense_Mutation_p.S582R|DNAH6_ENST00000398278.2_Missense_Mutation_p.S582R			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	582	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						AACTGGGCCAAGTTTAGCAGC	0.338																																																	0													90	89	89					2																	84785000		2203	4300	6503	SO:0001583	missense	0			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.1744A>C	2.37:g.84785000A>C	ENSP00000237449:p.Ser582Arg		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S582R	ENST00000237449.6	37	c.1744	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	A	11.77	1.736652	0.30774	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24908	1.83;1.96;1.83	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000007	T	0.37732	0.1014	M	0.61703	1.905	0.25994	N	0.982205	B;P	0.49783	0.134;0.928	B;P	0.53760	0.032;0.734	T	0.24657	-1.0154	10	0.18710	T	0.47	.	13.8456	0.63466	1.0:0.0:0.0:0.0	.	582;161	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	R	582	ENSP00000374045:S582R;ENSP00000381326:S582R;ENSP00000237449:S582R	ENSP00000237449:S582R	S	+	1	0	DNAH6	84638511	1.000000	0.71417	0.627000	0.29227	0.457000	0.32468	5.904000	0.69886	1.914000	0.55421	0.459000	0.35465	AGT	DNAH6	-	NULL	ENSG00000115423		0.338	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0	65	0	A	NM_001370		84785000	1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	37.76	60	37	SNP	0.992	C	C	84785000	A	C	84785000	3	2	139	1	0	0	0	0	1	0	0	0	4619	72	3	4	1782	4	DNAH6	2	84785000	Missense_Mutation	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09	35859083	84785000	158414373	16	35458											
KIAA1310	55683	genome.wustl.edu	37	chr2	97302702	97302702	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagtgacaaagagcatgcgGgtggggcgggcactactggc	9	5	19	8	2	0	2	0	1	0	1	0	3	0	3	0	6	3	2	0	6	2	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:97302702G>C	ENST00000431828.1	-	2	247	c.171C>G	c.(169-171)acC>acG	p.T57T	KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000441706.2_5'UTR|KANSL3_ENST00000599854.1_5'UTR|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000435669.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	57					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)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AGAGCATGCGGGTGGGGCGGG	0.577																																																	0													37	33	34					2																	97302702		692	1591	2283	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.171C>G	2.37:g.97302702G>C			A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	NULL	p.T57	ENST00000431828.1	37	c.171	CCDS46361.1	2																																																																																			KANSL3	-	NULL	ENSG00000114982		0.577	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	-	0	65	0	G	NM_017991		97302702	-1	tier1	-	no_errors	ENST00000431828	ensembl	human	known	74_37	silent	70.00	9	21	SNP	0.997	C	C	97302702	G	C	97302702	2	2	139	1	0	0	0	0	0	0	0	1	8249	1219	43	5		5	KIAA1310	2	97302702	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	12517702	97302702	145896671	17	35459											
ANKRD36	375248	genome.wustl.edu	37	chr2	97866239	97866239	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatataaccagagaaaaaaAggatggagaaatatctagga	22	6	10	3	0	1	2	0	0	1	2	1	7	1	4	1	3	1	0	1	3	9	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:97866239A>T	ENST00000461153.2	+	46	3078	c.2834A>T	c.(2833-2835)aAg>aTg	p.K945M	ANKRD36_ENST00000420699.2_Missense_Mutation_p.K945M			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	945										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGAGAAAAAAAGGATGGAGAA	0.353																																																	0													116	120	119					2																	97866239		692	1591	2283	SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2834A>T	2.37:g.97866239A>T	ENSP00000419530:p.Lys945Met		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K945M	ENST00000461153.2	37	c.2834	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	8.274	0.813925	0.16537	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.78003	-1.14;-1.14	0.85	0.85	0.18980	.	.	.	.	.	T	0.78780	0.4337	L	0.42245	1.32	0.09310	N	0.999999	D	0.71674	0.998	D	0.67725	0.953	T	0.64364	-0.6425	9	0.54805	T	0.06	.	3.9805	0.09493	1.0:0.0:0.0:0.0	.	945	A6QL64	AN36A_HUMAN	M	945;945;307	ENSP00000419530:K945M;ENSP00000391950:K945M	ENSP00000391950:K945M	K	+	2	0	ANKRD36	97229966	0.367000	0.25023	0.060000	0.19600	0.009000	0.06853	0.795000	0.26972	0.631000	0.30412	0.136000	0.15936	AAG	ANKRD36	-	NULL	ENSG00000135976		0.353	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0	332	0	A			97866239	1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	missense	12.89	337	50	SNP	0.075	T	T	97866239	A	T	97866239	3	4	139	1	0	0	0	0	1	0	0	0	665	72	3	5	3016	5	ANKRD36	2	97866239	Missense_Mutation	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09	563537	97866239	145333134	18	35460											
CNGA3	1261	genome.wustl.edu	37	chr2	99012723	99012723	+	Frame_Shift_Del	DEL	A	A	-																															actggtccaccttgacccttAccaccattggtgagacccca																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:99012723delA	ENST00000272602.2	+	7	1129	c.1090delA	c.(1090-1092)accfs	p.T365fs	CNGA3_ENST00000393504.1_Frame_Shift_Del_p.T365fs|CNGA3_ENST00000409937.1_Frame_Shift_Del_p.T369fs|CNGA3_ENST00000436404.2_Frame_Shift_Del_p.T347fs			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	365					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						CTTGACCCTTACCACCATTGG	0.522																																																	0													80	79	79					2																	99012723		2203	4300	6503	SO:0001589	frameshift_variant	0			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1090delA	2.37:g.99012723delA	ENSP00000272602:p.Thr365fs		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Frame_Shift_Del	DEL	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.T364fs	ENST00000272602.2	37	c.1090	CCDS2034.1	2																																																																																			CNGA3	-	pfam_Ion_trans_dom	ENSG00000144191		0.522	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1		0	53	0	A	NM_001298		99012723	1	tier1		no_errors	ENST00000272602	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	1.000	-	-	99012723	A	-	99012723	7	5	139	1	0	1	0	1	0	0	0	0	3605	391	14	0	1116	0	CNGA3	2	99012723	Frame_Shift_Del	DEL	A	TCGA-R6-A6DN-01B-11D-A31U-09	1146484	99012723	144186650	19	35461											
MYO7B	4648	genome.wustl.edu	37	chr2	128350416	128350416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgcgatactcgggcatGatggagaccgtgcacatccg	9	7	13	12	4	0	2	0	1	0	1	2	4	1	2	2	2	4	3	2	2	1	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:128350416G>A	ENST00000409816.2	+	16	2072	c.2040G>A	c.(2038-2040)atG>atA	p.M680I	MYO7B_ENST00000428314.1_Missense_Mutation_p.M680I|MYO7B_ENST00000389524.4_Missense_Mutation_p.M680I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	680	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)		ACTCGGGCATGATGGAGACCG	0.657																																																	0													30	39	36					2																	128350416		2071	4191	6262	SO:0001583	missense	0				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.2040G>A	2.37:g.128350416G>A	ENSP00000386461:p.Met680Ile		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.M680I	ENST00000409816.2	37	c.2040	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915666	0.92178	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.68624	-0.34;-0.34;-0.34	4.93	4.93	0.64822	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.79690	0.4489	M	0.66506	2.035	0.58432	D	0.999997	D	0.63046	0.992	D	0.63033	0.91	T	0.82082	-0.0633	10	0.72032	D	0.01	.	18.494	0.90858	0.0:0.0:1.0:0.0	.	680	Q6PIF6	MYO7B_HUMAN	I	680	ENSP00000374175:M680I;ENSP00000415090:M680I;ENSP00000386461:M680I	ENSP00000374175:M680I	M	+	3	0	MYO7B	128066886	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.713000	0.84693	2.447000	0.82792	0.655000	0.94253	ATG	MYO7B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000169994		0.657	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	-	0	53	0	G	XM_291001		128350416	1	tier1	-	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A	A	128350416	G	A	128350416	3	1	139	1	0	0	0	0	1	0	0	0	10121	1290	45	3	2102	3	MYO7B	2	128350416	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	29337693	128350416	114848957	20	35462											
NCKAP5	344148	genome.wustl.edu	37	chr2	133540573	133540573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gctgtggctgcgggctttggCgccattcatacccagagctg	5	10	14	12	2	1	1	1	0	0	1	1	1	1	1	2	3	3	4	2	3	1	3	rs531375141	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:133540573C>T	ENST00000409261.1	-	14	4184	c.3811G>A	c.(3811-3813)Gcc>Acc	p.A1271T	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1271T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1271										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CGGGCTTTGGCGCCATTCATA	0.532													C|||	2	0.000399361	0	0	5008	,	,		17238	0		0.001	False		,,,				2504	0.001																0													96	98	98					2																	133540573		2022	4177	6199	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3811G>A	2.37:g.133540573C>T	ENSP00000387128:p.Ala1271Thr		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.A1271T	ENST00000409261.1	37	c.3811	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652193	0.88056	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.27402	1.67;1.67	5.5	5.5	0.81552	.	0.000000	0.38381	U	0.001708	T	0.46132	0.1377	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.18808	-1.0325	10	0.41790	T	0.15	.	17.7704	0.88490	0.0:1.0:0.0:0.0	.	1271	O14513	NCKP5_HUMAN	T	1271	ENSP00000387128:A1271T;ENSP00000380603:A1271T	ENSP00000380603:A1271T	A	-	1	0	NCKAP5	133257043	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.542000	0.73869	2.854000	0.98071	0.655000	0.94253	GCC	NCKAP5	-	NULL	ENSG00000176771		0.532	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1		0	58	0	C	NM_207481		133540573	-1			no_errors	ENST00000317721	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	133540573	C	T	133540573	3	4	139	1	0	0	0	0	1	0	0	0	10262	768	27	1	1946	1	NCKAP5	2	133540573	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	5190157	133540573	109658800	21	35463											
LRP1B	53353	genome.wustl.edu	37	chr2	141093256	141093256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagtctggtgcagttggggCcattcagctgccctacgttg	6	11	14	10	1	2	1	1	0	1	1	2	1	2	1	2	3	4	4	2	3	1	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:141093256C>A	ENST00000389484.3	-	78	13015	c.12044G>T	c.(12043-12045)gGc>gTc	p.G4015V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4015					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G4015D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAGTTGGGGCCATTCAGCTG	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	lung(1)											141	137	138					2																	141093256		2203	4300	6503	SO:0001583	missense	0			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.12044G>T	2.37:g.141093256C>A	ENSP00000374135:p.Gly4015Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G4015V	ENST00000389484.3	37	c.12044	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.769325|4.769325	0.90020|0.90020	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.93488	.|-3.23	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97365|0.97365	0.9138|0.9138	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.97724|0.97724	1.0198|1.0198	5|10	.|0.87932	.|D	.|0	.|.	19.7341|19.7341	0.96195|0.96195	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4015	.|Q9NZR2	.|LRP1B_HUMAN	S|V	247|4015;3953	.|ENSP00000374135:G4015V	.|ENSP00000374135:G4015V	A|G	-|-	1|2	0|0	LRP1B|LRP1B	140809726|140809726	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.356000|7.356000	0.79445|0.79445	2.732000|2.732000	0.93576|0.93576	0.585000|0.585000	0.79938|0.79938	GCC|GGC	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000168702		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	95	0	C	NM_018557		141093256	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	22.81	44	13	SNP	1.000	A	A	141093256	C	A	141093256	3	1	139	1	0	0	0	0	1	0	0	0	8990	739	26	3	1811	3	LRP1B	2	141093256	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	7552683	141093256	102106117	22	35464											
ABCB11	8647	genome.wustl.edu	37	chr2	169814554	169814554	+	Missense_Mutation	SNP	T	T	C	0	1	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	acccacagaccctaccagcaTgtagggccattctggagcac	11	6	9	15	0	1	1	0	0	1	1	1	2	1	2	4	2	3	3	4	2	2	3	rs368297188		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:169814554T>C	ENST00000263817.6	-	19	2387	c.2263A>G	c.(2263-2265)Atg>Gtg	p.M755V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	755	ABC transmembrane type-1 2. {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)	CCTACCAGCATGTAGGGCCAT	0.507																																																	0													76	74	75					2																	169814554		1915	4131	6046	SO:0001583	missense	0			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.2263A>G	2.37:g.169814554T>C	ENSP00000263817:p.Met755Val		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.M755V	ENST00000263817.6	37	c.2263	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	T	9.804	1.181267	0.21787	.	.	ENSG00000073734	ENST00000263817	T	0.79653	-1.29	5.11	5.11	0.69529	ABC transporter, transmembrane domain, type 1 (1);	0.036775	0.85682	D	0.000000	T	0.74145	0.3678	L	0.43757	1.38	0.51767	D	0.999934	B;B	0.23990	0.025;0.095	B;B	0.30105	0.076;0.111	T	0.68300	-0.5445	10	0.13853	T	0.58	.	14.1551	0.65413	0.0:0.0:0.0:1.0	.	197;755	B4DZQ8;O95342	.;ABCBB_HUMAN	V	755	ENSP00000263817:M755V	ENSP00000263817:M755V	M	-	1	0	ABCB11	169522800	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.368000	0.52357	2.049000	0.60858	0.383000	0.25322	ATG	ABCB11	-	superfamily_ABC1_TM_dom	ENSG00000073734		0.507	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	-	0	44	0	T	NM_003742		169814554	-1	tier1	-	no_errors	ENST00000263817	ensembl	human	known	74_37	missense	61.90	8	13	SNP	1.000	C	C	169814554	T	C	169814554	3	2	139	1	0	0	0	0	1	0	0	0	42	1464	51	4	1742	4	ABCB11	2	169814554	Missense_Mutation	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09	28721298	169814554	73384819	23	35465											
TTN	7273	genome.wustl.edu	37	chr2	179604912	179604912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatttggtctgggggcatcaCcacgttgtcagaatgctctt	7	13	12	9	1	4	1	2	0	2	1	4	2	4	1	1	3	1	3	1	3	1	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:179604912C>A	ENST00000591111.1	-	46	12321	c.12097G>T	c.(12097-12099)Gtg>Ttg	p.V4033L	TTN_ENST00000342175.6_Missense_Mutation_p.V4179L|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L|TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V4350L|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V4112L(1)|p.V3987L(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)			GGGGGCATCACCACGTTGTCA	0.458																																																	2	Substitution - Missense(2)	prostate(2)											94	92	93					2																	179604912		1890	4120	6010	SO:0001583	missense	0			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.12097G>T	2.37:g.179604912C>A	ENSP00000465570:p.Val4033Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V4179L	ENST00000591111.1	37	c.12535		2	.	.	.	.	.	.	.	.	.	.	C	3.643	-0.073141	0.07228	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59364	0.31;0.28;0.27	5.79	-1.04	0.10068	.	.	.	.	.	T	0.29850	0.0746	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.21109	-1.0255	9	0.87932	D	0	.	1.2778	0.02034	0.2664:0.3508:0.0954:0.2874	.	3987;4112;4179	D3DPF9;E7EQE6;E7ET18	.;.;.	L	3987;4179;4112;3987	ENSP00000434586:V3987L;ENSP00000340554:V4179L;ENSP00000352154:V4112L	ENSP00000340554:V4179L	V	-	1	0	TTN	179313157	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.766000	0.04725	0.069000	0.16605	0.563000	0.77884	GTG	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	32	0	C	NM_133378		179604912	-1			no_errors	ENST00000342175	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.000	A	A	179604912	C	A	179604912	3	1	139	1	0	0	0	0	1	0	0	0	16784	507	18	3	91741	3	TTN	2	179604912	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	9790358	179604912	63594461	24	35466											
ERBB4	2066	genome.wustl.edu	37	chr2	212285327	212285327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactgggaagcttcatacGatcatcaccctaaaagaaag	15	8	9	9	1	3	1	3	0	0	1	3	4	3	3	1	2	2	1	1	2	5	3	rs143134749		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:212285327G>T	ENST00000342788.4	-	25	3284	c.2974C>A	c.(2974-2976)Cgt>Agt	p.R992S	ERBB4_ENST00000436443.1_Missense_Mutation_p.R992S|ERBB4_ENST00000402597.1_Missense_Mutation_p.R982S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	992					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)	AGCTTCATACGATCATCACCC	0.368										TSP Lung(8;0.080)																																							0													78	76	77					2																	212285327		2203	4299	6502	SO:0001583	missense	0			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.2974C>A	2.37:g.212285327G>T	ENSP00000342235:p.Arg992Ser		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R992S	ENST00000342788.4	37	c.2974	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016635	0.54468	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.61627	0.09;0.09;0.09	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.051262	0.85682	D	0.000000	T	0.53981	0.1830	M	0.61703	1.905	0.58432	D	0.999997	P;P;P;P	0.42620	0.785;0.722;0.785;0.679	B;B;B;B	0.31614	0.111;0.133;0.111;0.052	T	0.58025	-0.7709	10	0.38643	T	0.18	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	982;982;992;992	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	S	992;992;982	ENSP00000342235:R992S;ENSP00000403204:R992S;ENSP00000385565:R982S	ENSP00000342235:R992S	R	-	1	0	ERBB4	211993572	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.520000	0.73773	2.780000	0.95670	0.655000	0.94253	CGT	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom	ENSG00000178568		0.368	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1		0	40	0	G	NM_001042599		212285327	-1			no_errors	ENST00000342788	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	212285327	G	T	212285327	3	4	139	1	0	0	0	0	1	0	0	0	5225	1058	37	2	968	2	ERBB4	2	212285327	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	32680415	212285327	30914046	25	35467											
SMARCAL1	50485	genome.wustl.edu	37	chr2	217280990	217280990	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttcagatcctgacacCaagacgtggaacttcagcat	11	12	8	10	1	2	3	2	1	0	2	3	4	3	4	2	1	2	2	2	1	2	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:217280990C>G	ENST00000357276.4	+	4	1152	c.822C>G	c.(820-822)acC>acG	p.T274T	SMARCAL1_ENST00000358207.5_Silent_p.T274T	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	274	HARP 1. {ECO:0000255|PROSITE- ProRule:PRU00800}.				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)		ATCCTGACACCAAGACGTGGA	0.428									Schimke Immuno-Osseous Dysplasia																																								0													217	182	194					2																	217280990		2203	4300	6503	SO:0001819	synonymous_variant	0	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.822C>G	2.37:g.217280990C>G			A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T274	ENST00000357276.4	37	c.822	CCDS2403.1	2																																																																																			SMARCAL1	-	pfam_HARP_dom	ENSG00000138375		0.428	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	-	0	85	0	C			217280990	1	tier1	-	no_errors	ENST00000357276	ensembl	human	known	74_37	silent	31.75	43	20	SNP	0.784	G	G	217280990	C	G	217280990	2	3	139	1	0	0	0	0	0	0	0	1	14818	581	21	5		5	SMARCAL1	2	217280990	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	4995663	217280990	25918383	26	35468											
ZNF142	7701	genome.wustl.edu	37	chr2	219506993	219506993	+	Frame_Shift_Del	DEL	C	C	-																															gggctggccagcatccccatCcccatctgaggctgccacgg																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:219506993delC	ENST00000449707.1	-	8	4667	c.4246delG	c.(4246-4248)gatfs	p.D1416fs	ZNF142_ENST00000411696.2_Frame_Shift_Del_p.D1416fs	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1416					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)		GCATCCCCATCCCCATCTGAG	0.602																																					Colon(170;867 1942 8995 15834 18053)												0													71	82	79					2																	219506993		2087	4212	6299	SO:0001589	frameshift_variant	0			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.4246delG	2.37:g.219506993delC	ENSP00000408643:p.Asp1416fs		Q92510	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1416fs	ENST00000449707.1	37	c.4246	CCDS42817.1	2																																																																																			ZNF142	-	NULL	ENSG00000115568		0.602	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1		0	18	0	C	NM_005081		219506993	-1	tier1		no_errors	ENST00000411696	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	1.000	-	-	219506993	C	-	219506993	7	5	139	1	0	1	0	1	0	0	0	0	17779	855	30	0	829	0	ZNF142	2	219506993	Frame_Shift_Del	DEL	C	TCGA-R6-A6DN-01B-11D-A31U-09	2226003	219506993	23692380	27	35469											
PRKAG3	53632	genome.wustl.edu	37	chr2	219688556	219688556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	gatgtcggagagggagaccaCgcccaagagatgctgggtct	10	6	16	9	2	1	3	0	0	1	3	2	7	1	3	2	3	1	1	2	3	1	0	rs144562493	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:219688556C>A	ENST00000529249.1	-	13	1714	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	PRKAG3_ENST00000545803.1_Missense_Mutation_p.V283L|PRKAG3_ENST00000439262.2_Missense_Mutation_p.V442L			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	467	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				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)	AGGGAGACCACGCCCAAGAGA	0.612																																																	0													133	107	116					2																	219688556		2203	4300	6503	SO:0001583	missense	0			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.1399G>T	2.37:g.219688556C>A	ENSP00000436068:p.Val467Leu		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	pfam_CBS_dom,smart_CBS_dom	p.V467L	ENST00000529249.1	37	c.1399	CCDS2424.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255120	0.80135	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.93659	-3.26;-3.26;-3.26	5.21	3.4	0.38934	Cystathionine beta-synthase, core (3);	0.118078	0.56097	D	0.000033	D	0.91355	0.7273	L	0.28556	0.865	0.80722	D	1	D	0.54964	0.969	P	0.58172	0.834	D	0.89594	0.3830	10	0.54805	T	0.06	-16.0174	5.989	0.19450	0.0:0.659:0.0:0.341	.	467	Q9UGI9	AAKG3_HUMAN	L	442;283;467	ENSP00000397133:V442L;ENSP00000444536:V283L;ENSP00000436068:V467L	ENSP00000233944:V467L	V	-	1	0	PRKAG3	219396800	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	3.592000	0.53993	1.183000	0.42943	0.561000	0.74099	GTG	PRKAG3	-	pfam_CBS_dom,smart_CBS_dom	ENSG00000115592		0.612	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRKAG3	HGNC	protein_coding	OTTHUMT00000385992.1		0	40	0	C			219688556	-1			no_errors	ENST00000233944	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.996	A	A	219688556	C	A	219688556	3	1	139	1	0	0	0	0	1	0	0	0	12544	536	19	2	74	2	PRKAG3	2	219688556	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	181563	219688556	23510817	28	35470											
FAM134A	79137	genome.wustl.edu	37	chr2	220043663	220043663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgctgtcttcctcgtccCtccggcccttcttcctactc	1	15	7	18	2	2	0	0	0	2	0	8	0	6	0	5	2	2	2	5	2	1	5			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:220043663C>T	ENST00000430297.2	+	2	437	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	CNPPD1_ENST00000409789.1_5'Flank|CNPPD1_ENST00000360507.5_5'Flank	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	101						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCTCGTCCCTCCGGCCCTT	0.547																																																	0													326	260	282					2																	220043663		2203	4300	6503	SO:0001583	missense	0			AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.301C>T	2.37:g.220043663C>T	ENSP00000395249:p.Leu101Phe		Q6P1P5|Q9H0K7	Missense_Mutation	SNP	pfam_Reticulon	p.L101F	ENST00000430297.2	37	c.301	CCDS2434.1	2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624243	0.87560	.	.	ENSG00000144567	ENST00000430297	T	0.53423	0.62	4.72	3.84	0.44239	.	0.073033	0.56097	D	0.000022	T	0.44973	0.1319	M	0.66939	2.045	0.44492	D	0.997433	B	0.06786	0.001	B	0.12837	0.008	T	0.41360	-0.9513	10	0.52906	T	0.07	-5.0426	9.7376	0.40397	0.0:0.9022:0.0:0.0978	.	101	Q8NC44	F134A_HUMAN	F	101	ENSP00000395249:L101F	ENSP00000273048:L101F	L	+	1	0	FAM134A	219751907	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.665000	0.46791	0.964000	0.38108	0.561000	0.74099	CTC	FAM134A	-	pfam_Reticulon	ENSG00000144567		0.547	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM134A	HGNC	protein_coding	OTTHUMT00000336147.2	-	0	47	0	C	NM_024293		220043663	1	tier1	-	no_errors	ENST00000430297	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	T	T	220043663	C	T	220043663	3	4	139	1	0	0	0	0	1	0	0	0	5464	681	24	3	307	3	FAM134A	2	220043663	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	355107	220043663	23155710	29	35471											
ANKZF1	55139	genome.wustl.edu	37	chr2	220101063	220101063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacgctgctggagttgtgggGcatccctccaaggcctgact	6	9	14	12	1	0	1	0	1	0	0	2	3	2	2	3	4	1	4	3	4	1	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:220101063G>A	ENST00000323348.5	+	14	2251	c.2077G>A	c.(2077-2079)Gca>Aca	p.A693T	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A483T|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A693T	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	693						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)		GAGTTGTGGGGCATCCCTCCA	0.577																																																	0													108	115	113					2																	220101063		2066	4201	6267	SO:0001583	missense	0			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.2077G>A	2.37:g.220101063G>A	ENSP00000321617:p.Ala693Thr		Q9NVZ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A693T	ENST00000323348.5	37	c.2077	CCDS42821.1	2	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896927	0.33535	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	D;D;D	0.94576	-3.46;-3.46;-3.46	5.38	2.09	0.27110	.	0.352416	0.31519	N	0.007505	D	0.82462	0.5042	N	0.03608	-0.345	0.23341	N	0.997871	B	0.06786	0.001	B	0.06405	0.002	T	0.68842	-0.5302	10	0.15066	T	0.55	0.0036	8.1162	0.30944	0.2888:0.0:0.7112:0.0	.	693	Q9H8Y5	ANKZ1_HUMAN	T	693;483;693	ENSP00000321617:A693T;ENSP00000386815:A483T;ENSP00000386337:A693T	ENSP00000321617:A693T	A	+	1	0	ANKZF1	219809307	1.000000	0.71417	0.966000	0.40874	1.000000	0.99986	3.232000	0.51302	0.201000	0.20466	0.655000	0.94253	GCA	ANKZF1	-	NULL	ENSG00000163516		0.577	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	HGNC	protein_coding	OTTHUMT00000335790.1	-	0	61	0	G	NM_018089		220101063	1	tier1	-	no_errors	ENST00000323348	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	220101063	G	A	220101063	3	1	139	1	0	0	0	0	1	0	0	0	693	1203	42	3	2127	3	ANKZF1	2	220101063	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	57400	220101063	23098310	30	35472											
SLC6A1	6529	genome.wustl.edu	37	chr3	11078575	11078575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtcatggtccagcccagcGaagacatcgttcgcccagag	11	6	11	13	3	1	2	1	0	0	2	4	3	2	2	3	1	2	1	3	1	2	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:11078575G>A	ENST00000287766.4	+	16	2144	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	SLC6A1_ENST00000536032.1_Missense_Mutation_p.E397K	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	575					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CCAGCCCAGCGAAGACATCGT	0.642																																																	0													92	88	89					3																	11078575		2203	4300	6503	SO:0001583	missense	0				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1723G>A	3.37:g.11078575G>A	ENSP00000287766:p.Glu575Lys		Q8N4K8	Missense_Mutation	SNP	pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport	p.E575K	ENST00000287766.4	37	c.1723	CCDS2603.1	3	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093627	0.36952	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.74421	-0.72;-0.84	4.39	4.39	0.52855	.	0.000000	0.38605	U	0.001637	T	0.53530	0.1802	N	0.08118	0	0.51012	D	0.999902	B	0.11235	0.004	B	0.06405	0.002	T	0.52124	-0.8617	10	0.08179	T	0.78	.	16.9702	0.86297	0.0:0.0:1.0:0.0	.	575	P30531	SC6A1_HUMAN	K	575;397	ENSP00000287766:E575K;ENSP00000445171:E397K	ENSP00000287766:E575K	E	+	1	0	SLC6A1	11053575	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	5.724000	0.68500	1.985000	0.57927	0.467000	0.42956	GAA	SLC6A1	-	NULL	ENSG00000157103		0.642	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A1	HGNC	protein_coding	OTTHUMT00000102767.2	-	0	48	0	G	NM_003042		11078575	1	tier1	-	no_errors	ENST00000287766	ensembl	human	known	74_37	missense	83.33	4	20	SNP	1.000	A	A	11078575	G	A	11078575	3	1	139	1	0	0	0	0	1	0	0	0	14718	1059	37	1	1777	1	SLC6A1	3	11078575	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09		11078575	186943855	31	35473											
SH3BP5	9467	genome.wustl.edu	37	chr3	15311298	15311298	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagcagccgctgctcGgccagggagatggtctcctt	5	9	12	15	2	1	1	0	0	1	1	5	2	3	1	5	3	3	3	5	3	0	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:15311298G>T	ENST00000383791.3	-	4	637	c.417C>A	c.(415-417)gcC>gcA	p.A139A	SH3BP5_ENST00000465894.2_5'Flank|SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000253688.5_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	139					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						GCCGCTGCTCGGCCAGGGAGA	0.617																																																	0													104	107	106					3																	15311298		2203	4300	6503	SO:0001819	synonymous_variant	0			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.417C>A	3.37:g.15311298G>T			B3KQW6|Q5JWV9	Silent	SNP	pfam_SH3-bd_5	p.A139	ENST00000383791.3	37	c.417	CCDS2625.2	3																																																																																			SH3BP5	-	pfam_SH3-bd_5	ENSG00000131370		0.617	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5	HGNC	protein_coding	OTTHUMT00000340740.2	-	0	26	0	G	NM_004844		15311298	-1	tier1	-	no_errors	ENST00000383791	ensembl	human	known	74_37	silent	18.75	13	3	SNP	0.220	T	T	15311298	G	T	15311298	2	4	139	1	0	0	0	0	0	0	0	1	14292	1103	39	2		2	SH3BP5	3	15311298	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	4232723	15311298	182711132	32	35474											
FRMD4B	23150	genome.wustl.edu	37	chr3	69242853	69242853	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacacctaattcggtattCgtttattgcattttcaatct	9	18	4	10	2	2	0	1	0	1	0	5	0	3	0	2	1	1	3	2	1	4	9	rs200039017		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:69242853C>A	ENST00000398540.3	-	17	1743	c.1660G>T	c.(1660-1662)Gaa>Taa	p.E554*	FRMD4B_ENST00000478263.1_Nonsense_Mutation_p.E206*|FRMD4B_ENST00000542259.1_Nonsense_Mutation_p.E500*	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	554					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)		ATTCGGTATTCGTTTATTGCA	0.388																																																	0													163	143	149					3																	69242853		1852	4091	5943	SO:0001587	stop_gained	0			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.1660G>T	3.37:g.69242853C>A	ENSP00000381549:p.Glu554*		Q8TAI3	Nonsense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.E554*	ENST00000398540.3	37	c.1660	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.441547	0.98286	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	.	.	.	5.68	4.81	0.61882	.	0.273558	0.38897	N	0.001533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-25.4787	14.0679	0.64841	0.0:0.9282:0.0:0.0718	.	.	.	.	X	554;500;206	.	ENSP00000381549:E554X	E	-	1	0	FRMD4B	69325543	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.934000	0.56553	2.694000	0.91930	0.585000	0.79938	GAA	FRMD4B	-	NULL	ENSG00000114541		0.388	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	-	0	77	0	C			69242853	-1	tier1	-	no_errors	ENST00000398540	ensembl	human	known	74_37	nonsense	17.78	37	8	SNP	1.000	A	A	69242853	C	A	69242853	4	1	139	1	0	0	0	0	0	1	0	0	6076	893	31	2	1472	2	FRMD4B	3	69242853	Nonsense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	53931555	69242853	128779577	33	35475											
DCBLD2	131566	genome.wustl.edu	37	chr3	98620070	98620070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagcagggagggagggagCgggagagggggagcgcggcc	8	1	26	6	3	0	1	0	0	0	1	0	7	0	6	1	8	3	1	1	8	0	0			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:98620070C>T	ENST00000326840.6	-	1	463	c.101G>A	c.(100-102)cGc>cAc	p.R34H	CTD-2021J15.1_ENST00000474798.1_RNA|DCBLD2_ENST00000469648.1_5'Flank|DCBLD2_ENST00000326857.9_Missense_Mutation_p.R34H	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	34					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						agggagggagcgggagagggg	0.716																																																	0													9	10	10					3																	98620070		1739	3635	5374	SO:0001583	missense	0				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.101G>A	3.37:g.98620070C>T	ENSP00000321573:p.Arg34His		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.R34H	ENST00000326840.6	37	c.101	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	C	7.568	0.666176	0.14710	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	D;D	0.90385	-2.66;-2.66	2.99	0.879	0.19155	.	2.333530	0.01971	N	0.044078	T	0.79964	0.4537	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	0.68842	-0.5302	10	0.38643	T	0.18	3.4014	3.0959	0.06309	0.2625:0.5842:0.0:0.1533	.	34;34	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	H	34	ENSP00000321573:R34H;ENSP00000321646:R34H	ENSP00000321573:R34H	R	-	2	0	DCBLD2	100102760	0.387000	0.25188	0.006000	0.13384	0.329000	0.28539	0.242000	0.18087	0.585000	0.29608	0.398000	0.26397	CGC	DCBLD2	-	NULL	ENSG00000057019		0.716	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	-	0	23	0	C	NM_080927		98620070	-1	tier1	-	no_errors	ENST00000326857	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.000	T	T	98620070	C	T	98620070	3	4	139	1	0	0	0	0	1	0	0	0	4290	768	27	1	2290	1	DCBLD2	3	98620070	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	29377217	98620070	99402360	34	35476											
GPR128	84873	genome.wustl.edu	37	chr3	100356188	100356188	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cagtgagtcaactcctagatGccagtgaagatgcttttcaa	12	11	9	9	0	2	4	2	2	0	2	3	4	3	4	2	0	3	1	2	0	4	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:100356188G>T	ENST00000273352.3	+	6	908	c.640G>T	c.(640-642)Gcc>Tcc	p.A214S	GPR128_ENST00000475887.1_Start_Codon_SNP_p.M1I	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	214					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.A214T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACTCCTAGATGCCAGTGAAGA	0.393																																					Pancreas(87;185 1975 7223 18722)												1	Substitution - Missense(1)	endometrium(1)											161	143	149					3																	100356188		2203	4300	6503	SO:0001583	missense	0			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.640G>T	3.37:g.100356188G>T	ENSP00000273352:p.Ala214Ser		Q14D94|Q86SQ2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.A214S	ENST00000273352.3	37	c.640	CCDS2938.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.62|15.62	2.886207|2.886207	0.51908|0.51908	.|.	.|.	ENSG00000144820|ENSG00000144820	ENST00000273352|ENST00000475887	T|T	0.39406|0.29142	1.08|1.58	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.316681|.	0.26832|.	N|.	0.022274|.	T|T	0.49949|0.49949	0.1587|0.1587	M|M	0.72118|0.72118	2.19|2.19	0.09310|0.09310	N|N	0.999999|0.999999	D|.	0.76494|.	0.999|.	P|.	0.61800|.	0.894|.	T|T	0.46938|0.46938	-0.9155|-0.9155	10|7	0.33141|0.87932	T|D	0.24|0	.|.	15.9754|15.9754	0.80060|0.80060	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	214|.	Q96K78|.	GP128_HUMAN|.	S|I	214|1	ENSP00000273352:A214S|ENSP00000419788:M1I	ENSP00000273352:A214S|ENSP00000419788:M1I	A|M	+|+	1|3	0|0	GPR128|GPR128	101838878|101838878	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.556000|0.556000	0.35491|0.35491	4.488000|4.488000	0.60300|0.60300	2.844000|2.844000	0.97970|0.97970	0.650000|0.650000	0.86243|0.86243	GCC|ATG	GPR128	-	NULL	ENSG00000144820		0.393	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1		0	51	0	G			100356188	1			no_errors	ENST00000273352	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.994	T	T	100356188	G	T	100356188	3	4	139	1	0	0	0	0	1	0	0	0	6667	1319	46	3	662	3	GPR128	3	100356188	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	1736118	100356188	97666242	35	35477											
GPR128	84873	genome.wustl.edu	37	chr3	100362220	100362220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaaaatgcggtggggcCttcaaatgttcgcttctctg	8	13	11	9	2	3	1	2	0	1	1	5	1	3	1	1	3	1	2	1	3	3	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:100362220C>T	ENST00000273352.3	+	7	1077	c.809C>T	c.(808-810)cCt>cTt	p.P270L	GPR128_ENST00000475887.1_Intron|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	270					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GCGGTGGGGCCTTCAAATGTT	0.403																																					Pancreas(87;185 1975 7223 18722)												0													149	151	150					3																	100362220		2203	4300	6503	SO:0001583	missense	0			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.809C>T	3.37:g.100362220C>T	ENSP00000273352:p.Pro270Leu		Q14D94|Q86SQ2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.P270L	ENST00000273352.3	37	c.809	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	C	9.473	1.096209	0.20552	.	.	ENSG00000144820	ENST00000273352	T	0.37915	1.17	4.7	1.85	0.25348	.	0.772477	0.11050	N	0.605101	T	0.19167	0.0460	N	0.22421	0.69	0.09310	N	1	B	0.29716	0.255	B	0.23275	0.045	T	0.20840	-1.0263	10	0.23302	T	0.38	.	4.3854	0.11314	0.0:0.6024:0.1868:0.2108	.	270	Q96K78	GP128_HUMAN	L	270	ENSP00000273352:P270L	ENSP00000273352:P270L	P	+	2	0	GPR128	101844910	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	1.319000	0.33655	0.190000	0.20209	-0.182000	0.12963	CCT	GPR128	-	NULL	ENSG00000144820		0.403	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1	-	0	47	0	C			100362220	1	tier1	-	no_errors	ENST00000273352	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	T	T	100362220	C	T	100362220	3	4	139	1	0	0	0	0	1	0	0	0	6667	681	24	3	835	3	GPR128	3	100362220	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	6032	100362220	97660210	36	35478											
RETNLB	84666	genome.wustl.edu	37	chr3	108475993	108475993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggttgatcagctggagaaGggggattaggatgagaagga	12	7	19	3	1	1	3	1	2	0	2	1	8	1	6	0	6	1	2	0	6	3	2	rs5851607|rs368497660	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:108475993G>A	ENST00000295755.6	-	1	238	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	RETNLB_ENST00000482939.1_5'Flank	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	14					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGCTGGAGAAGGGGGATTAGG	0.507																																																	0													70	63	65					3																	108475993		2203	4300	6503	SO:0001583	missense	0			AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.40C>T	3.37:g.108475993G>A	ENSP00000295755:p.Leu14Phe		Q14D27	Missense_Mutation	SNP	pfam_Resistin,superfamily_Resistin	p.L14F	ENST00000295755.6	37	c.40	CCDS2953.1	3	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083339	0.36758	.	.	ENSG00000163515	ENST00000295755	T	0.55234	0.53	4.06	2.23	0.28157	.	0.476032	0.17661	N	0.166329	T	0.42720	0.1215	L	0.51422	1.61	0.29432	N	0.859773	B	0.22080	0.064	B	0.20384	0.029	T	0.43343	-0.9397	10	0.72032	D	0.01	-6.3502	5.7101	0.17931	0.1101:0.1974:0.6925:0.0	.	14	Q9BQ08	RETNB_HUMAN	F	14	ENSP00000295755:L14F	ENSP00000295755:L14F	L	-	1	0	RETNLB	109958683	0.165000	0.22948	0.428000	0.26697	0.412000	0.31113	0.176000	0.16782	0.366000	0.24427	-0.150000	0.13652	CTT	RETNLB	-	pfam_Resistin	ENSG00000163515		0.507	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETNLB	HGNC	protein_coding	OTTHUMT00000355093.1		0	56	0	G			108475993	-1			no_errors	ENST00000295755	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.952	A	A	108475993	G	A	108475993	3	1	139	1	0	0	0	0	1	0	0	0	13282	1000	35	3	307	3	RETNLB	3	108475993	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	8113773	108475993	89546437	37	35479											
SIDT1	54847	genome.wustl.edu	37	chr3	113327292	113327292	+	Silent	SNP	T	T	C	0	1	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	gggattcccaaacactttggTctcttctacgctatgggcat	8	13	9	11	1	2	0	0	0	2	0	4	1	3	1	1	3	2	2	1	3	3	5			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:113327292T>C	ENST00000264852.4	+	17	2355	c.1629T>C	c.(1627-1629)ggT>ggC	p.G543G	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.G543G	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	543					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						AACACTTTGGTCTCTTCTACG	0.438																																																	0													220	207	211					3																	113327292		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1629T>C	3.37:g.113327292T>C			Q17RR4	Silent	SNP	NULL	p.G543	ENST00000264852.4	37	c.1629	CCDS2974.1	3																																																																																			SIDT1	-	NULL	ENSG00000072858		0.438	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	HGNC	protein_coding	OTTHUMT00000317564.1	-	0	64	0	T	NM_017699		113327292	1	tier1	-	no_errors	ENST00000393830	ensembl	human	known	74_37	silent	17.00	83	17	SNP	1.000	C	C	113327292	T	C	113327292	2	2	139	1	0	0	0	0	0	0	0	1	14347	1654	58	4		4	SIDT1	3	113327292	Silent	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09	4851299	113327292	84695138	38	35480											
SLC15A2	6565	genome.wustl.edu	37	chr3	121659777	121659777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaaagacagaggatatgCggggtccagcagataagcac	14	6	13	8	1	0	3	0	0	0	3	1	4	1	4	1	3	3	3	1	3	4	3	rs138745887		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:121659777C>T	ENST00000489711.1	+	22	2501	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W	SLC15A2_ENST00000295605.2_Missense_Mutation_p.R674W	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	705					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)	AGAGGATATGCGGGGTCCAGC	0.473													C|||	1	0.000199681	0	0	5008	,	,		19993	0		0.001	False		,,,				2504	0																0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	111	106	107		2020,2113	2.1	0	3	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SLC15A2	NM_001145998.1,NM_021082.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	674/699,705/730	121659777	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2113C>T	3.37:g.121659777C>T	ENSP00000417085:p.Arg705Trp		A8K1A5|B4E2A7	Missense_Mutation	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.R705W	ENST00000489711.1	37	c.2113	CCDS3007.1	3	.	.	.	.	.	.	.	.	.	.	C	9.000	0.979871	0.18812	0.0	1.16E-4	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.02890	4.4;4.12	5.1	2.07	0.26955	.	0.904463	0.09595	N	0.780928	T	0.01976	0.0062	N	0.08118	0	0.09310	N	1	B;B	0.31435	0.203;0.323	B;B	0.35550	0.205;0.021	T	0.47686	-0.9098	10	0.87932	D	0	1.7034	3.3337	0.07093	0.3623:0.4394:0.0:0.1983	.	674;705	B4E2A7;Q16348	.;S15A2_HUMAN	W	705;667;674	ENSP00000417085:R705W;ENSP00000295605:R674W	ENSP00000295605:R674W	R	+	1	2	SLC15A2	123142467	0.000000	0.05858	0.021000	0.16686	0.348000	0.29142	0.257000	0.18369	0.704000	0.31869	0.563000	0.77884	CGG	SLC15A2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000163406		0.473	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	-	0	54	0	C	NM_021082		121659777	1	tier1	rs138745887	no_errors	ENST00000489711	ensembl	human	known	74_37	missense	73.42	21	58	SNP	0.001	T	T	121659777	C	T	121659777	3	4	139	1	0	0	0	0	1	0	0	0	14444	759	27	1	2199	1	SLC15A2	3	121659777	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	8332485	121659777	76362653	39	35481											
CD86	942	genome.wustl.edu	37	chr3	121822413	121822413	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgagactgcagacctgccatGccaatttgcaaactctcaaa	13	9	7	12	0	1	2	1	1	1	2	2	3	1	2	3	0	5	2	3	0	3	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:121822413G>T	ENST00000330540.2	+	3	235	c.119G>T	c.(118-120)tGc>tTc	p.C40F	CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.C34F|CD86_ENST00000483949.1_3'UTR	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	40	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	GACCTGCCATGCCAATTTGCA	0.428																																					GBM(67;1379 1389 36064 39806)												0													89	89	89					3																	121822413		2203	4300	6503	SO:0001583	missense	0				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.119G>T	3.37:g.121822413G>T	ENSP00000332049:p.Cys40Phe		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.C40F	ENST00000330540.2	37	c.119	CCDS3009.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.09|17.09	3.300412|3.300412	0.60195|0.60195	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000330540;ENST00000482356;ENST00000393627|ENST00000478741	T;T;T|.	0.62364|.	0.03;0.03;0.03|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000007|.	D|D	0.84911|0.84911	0.5577|0.5577	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.87778|0.87778	0.2610|0.2610	10|5	0.87932|.	D|.	0|.	-19.5734|-19.5734	14.5151|14.5151	0.67814|0.67814	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	40|.	P42081|.	CD86_HUMAN|.	F|I	40;34;34|35	ENSP00000332049:C40F;ENSP00000419116:C34F;ENSP00000377248:C34F|.	ENSP00000332049:C40F|.	C|M	+|+	2|3	0|0	CD86|CD86	123305103|123305103	0.992000|0.992000	0.36948|0.36948	0.745000|0.745000	0.31077|0.31077	0.720000|0.720000	0.41350|0.41350	4.830000|4.830000	0.62745|0.62745	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	TGC|ATG	CD86	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000114013		0.428	CD86-001	KNOWN	basic|CCDS	protein_coding	CD86	HGNC	protein_coding	OTTHUMT00000355671.1		0	77	0	G	NM_006889		121822413	1			no_errors	ENST00000330540	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.735	T	T	121822413	G	T	121822413	3	4	139	1	0	0	0	0	1	0	0	0	3050	1319	46	3	129	3	CD86	3	121822413	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	162636	121822413	76200017	40	35482											
ABTB1	80325	genome.wustl.edu	37	chr3	127396666	127396666	+	Missense_Mutation	SNP	A	A	G	1	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	tcactcacgtgctctactacAtgtacagcgaccacactgag	11	9	7	14	2	3	1	2	1	1	0	3	2	3	1	1	0	5	2	1	0	3	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:127396666A>G	ENST00000232744.8	+	10	1095	c.1009A>G	c.(1009-1011)Atg>Gtg	p.M337V	ABTB1_ENST00000453791.2_Missense_Mutation_p.M195V|ABTB1_ENST00000393363.3_Missense_Mutation_p.M195V|ABTB1_ENST00000468137.1_Missense_Mutation_p.M195V					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GCTCTACTACATGTACAGCGA	0.662																																																	0													35	34	34					3																	127396666		2203	4300	6503	SO:0001583	missense	0			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.1009A>G	3.37:g.127396666A>G	ENSP00000232744:p.Met337Val			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.M337V	ENST00000232744.8	37	c.1009	CCDS3045.1	3	.	.	.	.	.	.	.	.	.	.	a	0.891	-0.725402	0.03158	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.17	-3.75	0.04372	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.344142	0.31210	N	0.008046	T	0.38268	0.1034	N	0.10618	0.005	0.21802	N	0.999531	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25047	-1.0143	10	0.11794	T	0.64	-18.3955	13.9037	0.63821	0.796:0.0:0.204:0.0	.	173;337;312	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	V	173;195;337;195;195	ENSP00000377030:M195V;ENSP00000232744:M337V;ENSP00000412684:M195V;ENSP00000417366:M195V	ENSP00000232744:M337V	M	+	1	0	ABTB1	128879356	0.999000	0.42202	0.003000	0.11579	0.658000	0.38924	3.783000	0.55409	-0.843000	0.04189	-1.002000	0.02502	ATG	ABTB1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000114626		0.662	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB1	HGNC	protein_coding	OTTHUMT00000356595.1		0	12	0	A	NM_172027		127396666	1			no_errors	ENST00000232744	ensembl	human	known	74_37	missense	30.00	7	3	SNP	0.925	G	G	127396666	A	G	127396666	3	3	139	1	0	0	0	0	1	0	0	0	102	217	8	4	1047	4	ABTB1	3	127396666	Missense_Mutation	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09	5574253	127396666	70625764	41	35483											
PLXND1	23129	genome.wustl.edu	37	chr3	129292499	129292499	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaccaatccacacgccGtgggccacgtcactgagccg	10	4	9	18	4	1	1	1	1	0	0	2	1	2	1	6	1	1	0	6	1	1	0	rs370338586		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:129292499G>A	ENST00000324093.4	-	13	2953	c.2775C>T	c.(2773-2775)caC>caT	p.H925H	PLXND1_ENST00000393239.1_Silent_p.H925H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	925	IPT/TIG 1.				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						TCCACACGCCGTGGGCCACGT	0.647																																					Ovarian(97;366 1484 3738 22084 39045)												0								G		0,4406		0,0,2203	59	51	53		2775	-4.9	0.2	3		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLXND1	NM_015103.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		925/1926	129292499	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.2775C>T	3.37:g.129292499G>A			A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.H925	ENST00000324093.4	37	c.2775	CCDS33854.1	3																																																																																			PLXND1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000004399		0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4		0	56	0	G	NM_015103		129292499	-1			no_errors	ENST00000324093	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.000	A	A	129292499	G	A	129292499	2	1	139	1	0	0	0	0	0	0	0	1	12166	1136	40	1		1	PLXND1	3	129292499	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	1895833	129292499	68729931	42	35484											
PLSCR5	389158	genome.wustl.edu	37	chr3	146307513	146307513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaacatgaattccgaaaTtgtcagcatttgtgaagaca	15	10	9	7	1	1	3	1	2	0	1	2	5	2	4	1	1	2	1	1	1	4	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:146307513T>C	ENST00000443512.1	-	6	1707	c.704A>G	c.(703-705)aAt>aGt	p.N235S	PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Missense_Mutation_p.N223S|PLSCR5_ENST00000492200.1_Missense_Mutation_p.N235S	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	235										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AATTCCGAAATTGTCAGCATT	0.373																																																	0													150	142	145					3																	146307513		1884	4109	5993	SO:0001583	missense	0			AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.704A>G	3.37:g.146307513T>C	ENSP00000390111:p.Asn235Ser		B2RXK5	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.N235S	ENST00000443512.1	37	c.704	CCDS46931.1	3	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498769	0.85069	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.28895	1.59;1.59;1.59	5.66	5.66	0.87406	Tubby, C-terminal (1);	.	.	.	.	T	0.62780	0.2456	M	0.88181	2.935	0.45883	D	0.998734	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.893	T	0.69837	-0.5037	9	0.59425	D	0.04	-15.1968	15.8893	0.79279	0.0:0.0:0.0:1.0	.	223;235	B2RXK5;A0PG75	.;PLS5_HUMAN	S	235;223;235	ENSP00000417184:N235S;ENSP00000418626:N223S;ENSP00000390111:N235S	ENSP00000390111:N235S	N	-	2	0	PLSCR5	147790203	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.655000	0.83696	2.153000	0.67306	0.528000	0.53228	AAT	PLSCR5	-	pfam_Scramblase,superfamily_Tubby_C-like	ENSG00000231213		0.373	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLSCR5	HGNC	protein_coding	OTTHUMT00000355365.1	-	0	45	0	T	XM_371670		146307513	-1	tier1	-	no_errors	ENST00000443512	ensembl	human	known	74_37	missense	78.85	11	41	SNP	1.000	C	C	146307513	T	C	146307513	3	2	139	1	0	0	0	0	1	0	0	0	12152	1493	52	4	119	4	PLSCR5	3	146307513	Missense_Mutation	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09	17015014	146307513	51714917	43	35485											
NLGN1	22871	genome.wustl.edu	37	chr3	173322865	173322865	+	Nonsense_Mutation	SNP	T	T	A	0	1	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	tgcctatatttaaatatataTgtcccgactgaggatggtga	12	14	9	6	1	0	2	0	2	0	0	1	4	1	3	2	2	1	0	2	2	7	7			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:173322865T>A	ENST00000457714.1	+	3	906	c.477T>A	c.(475-477)taT>taA	p.Y159*	NLGN1_ENST00000361589.4_Nonsense_Mutation_p.Y159*|NLGN1_ENST00000401917.3_Nonsense_Mutation_p.Y159*|NLGN1_ENST00000545397.1_Nonsense_Mutation_p.Y159*	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	159					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TAAATATATATGTCCCGACTG	0.343																																																	0													75	79	77					3																	173322865		2203	4300	6503	SO:0001587	stop_gained	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.477T>A	3.37:g.173322865T>A	ENSP00000392500:p.Tyr159*		Q9UPT2	Nonsense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.Y159*	ENST00000457714.1	37	c.477	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	T	42	9.795795	0.99266	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	.	.	.	5.62	3.08	0.35506	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6315	0.39782	0.0:0.1488:0.0:0.8512	.	.	.	.	X	159	.	ENSP00000354541:Y159X	Y	+	3	2	NLGN1	174805559	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	0.784000	0.26816	0.424000	0.26061	0.383000	0.25322	TAT	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.343	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	-	0	19	0	T	NM_014932		173322865	1	tier1	-	no_errors	ENST00000401917	ensembl	human	known	74_37	nonsense	38.46	8	5	SNP	1.000	A	A	173322865	T	A	173322865	4	1	139	1	0	0	0	0	0	1	0	0	10500	1471	51	5	479	5	NLGN1	3	173322865	Nonsense_Mutation	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09	27015352	173322865	24699565	44	35486											
FBXO45	200933	genome.wustl.edu	37	chr3	196311080	196311080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtggatatgagttcctggGggttgcttttagaggacttc	7	14	14	6	1	0	2	0	1	0	1	2	4	1	4	1	4	1	3	1	4	2	6			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:196311080G>T	ENST00000311630.6	+	3	1049	c.752G>T	c.(751-753)gGg>gTg	p.G251V	FBXO45_ENST00000440469.1_Missense_Mutation_p.G72V	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	251	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAGTTCCTGGGGGTTGCTTTT	0.408																																																	0													123	120	121					3																	196311080		1857	4088	5945	SO:0001583	missense	0			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"F-boxes /  "other""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.752G>T	3.37:g.196311080G>T	ENSP00000310332:p.Gly251Val		A6NF90|D3DXB5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_F-box_dom,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom,smart_F-box_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom	p.G251V	ENST00000311630.6	37	c.752	CCDS46985.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985906	0.74589	.	.	ENSG00000174013	ENST00000440469;ENST00000311630	T;T	0.68765	-0.35;-0.35	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90539	0.4501	10	0.87932	D	0	-8.4135	18.7709	0.91892	0.0:0.0:1.0:0.0	.	251	P0C2W1	FBSP1_HUMAN	V	72;251	ENSP00000389868:G72V;ENSP00000310332:G251V	ENSP00000310332:G251V	G	+	2	0	FBXO45	197795477	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.985000	0.93487	2.740000	0.93945	0.563000	0.77884	GGG	FBXO45	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000174013		0.408	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO45	HGNC	protein_coding	OTTHUMT00000340687.2	-	0	38	0	G			196311080	1	tier1	-	no_errors	ENST00000311630	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	T	T	196311080	G	T	196311080	3	4	139	1	0	0	0	0	1	0	0	0	5776	1232	43	3	762	3	FBXO45	3	196311080	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	22988215	196311080	1711350	45	35487											
POLN	353497	genome.wustl.edu	37	chr4	2214842	2214842	+	Missense_Mutation	SNP	T	T	A	0	1	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	cttaacactggacttgtttaTcacttccatagcttttaaaa	12	16	4	9	0	1	0	1	0	0	0	2	1	2	1	1	1	2	2	1	1	5	8			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:2214842T>A	ENST00000511885.2	-	4	498	c.145A>T	c.(145-147)Ata>Tta	p.I49L	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.I49L			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	49					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)			GACTTGTTTATCACTTCCATA	0.308								DNA polymerases (catalytic subunits)																																									0													136	125	129					4																	2214842		2199	4299	6498	SO:0001583	missense	0			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.145A>T	4.37:g.2214842T>A	ENSP00000435506:p.Ile49Leu		A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.I49L	ENST00000511885.2	37	c.145	CCDS3360.1	4	.	.	.	.	.	.	.	.	.	.	T	4.758	0.140905	0.09083	.	.	ENSG00000130997	ENST00000511885;ENST00000382865	T;T	0.04654	3.58;3.58	3.45	-1.74	0.08056	.	1.028740	0.07769	N	0.951437	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	B;B	0.18863	0.031;0.017	B;B	0.11329	0.006;0.006	T	0.46289	-0.9202	10	0.38643	T	0.18	0.2927	4.0467	0.09776	0.0:0.4235:0.2074:0.3691	.	49;49	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	L	49	ENSP00000435506:I49L;ENSP00000372316:I49L	ENSP00000372316:I49L	I	-	1	0	POLN	2184640	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-0.188000	0.09642	-0.317000	0.08677	0.454000	0.30748	ATA	POLN	-	NULL	ENSG00000130997		0.308	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	-	0	44	0	T	NM_181808		2214842	-1	tier1	-	no_errors	ENST00000382865	ensembl	human	known	74_37	missense	77.27	5	17	SNP	0.000	A	A	2214842	T	A	2214842	3	1	139	1	0	0	0	0	1	0	0	0	12246	1435	50	5	2649	5	POLN	4	2214842	Missense_Mutation	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09		2214842	188939434	46	35488											
WFS1	7466	genome.wustl.edu	37	chr4	6302454	6302454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacatggcctccagggcagGcatgcactggctgtccacca	8	7	12	14	0	0	1	0	1	0	0	2	1	2	1	4	4	1	4	4	4	0	0			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:6302454G>A	ENST00000226760.1	+	8	1102	c.932G>A	c.(931-933)gGc>gAc	p.G311D	WFS1_ENST00000503569.1_Missense_Mutation_p.G311D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	311					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCCAGGGCAGGCATGCACTGG	0.562																																																	0													297	216	244					4																	6302454		2203	4300	6503	SO:0001583	missense	0			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.932G>A	4.37:g.6302454G>A	ENSP00000226760:p.Gly311Asp		B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	NULL	p.G311D	ENST00000226760.1	37	c.932	CCDS3386.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.82|18.82	3.704371|3.704371	0.68615|0.68615	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000506362|ENST00000503569;ENST00000226760	.|D;D	.|0.88046	.|-2.33;-2.33	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92169|0.92169	0.7517|0.7517	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.93137|0.93137	0.6538|0.6538	5|10	.|0.72032	.|D	.|0.01	-49.6394|-49.6394	16.4141|16.4141	0.83728|0.83728	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|311	.|O76024	.|WFS1_HUMAN	T|D	189|311	.|ENSP00000423337:G311D;ENSP00000226760:G311D	.|ENSP00000226760:G311D	A|G	+|+	1|2	0|0	WFS1|WFS1	6353355|6353355	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.938000|0.938000	0.57974|0.57974	8.929000|8.929000	0.92859|0.92859	2.122000|2.122000	0.65172|0.65172	0.556000|0.556000	0.70494|0.70494	GCA|GGC	WFS1	-	NULL	ENSG00000109501		0.562	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	HGNC	protein_coding	OTTHUMT00000206863.1		0	25	0	G			6302454	1			no_errors	ENST00000226760	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A	A	6302454	G	A	6302454	3	1	139	1	0	0	0	0	1	0	0	0	17409	1203	42	3	958	3	WFS1	4	6302454	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	4087612	6302454	184851822	47	35489											
PPEF2	5470	genome.wustl.edu	37	chr4	76797687	76797687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtaggagccaagccgaaggGgcgaagagggaagagagcgg	13	2	20	6	3	0	2	0	0	0	2	0	7	0	4	2	5	3	1	2	5	5	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:76797687G>T	ENST00000286719.7	-	11	1429	c.1073C>A	c.(1072-1074)cCc>cAc	p.P358H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	358	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGCCGAAGGGGCGAAGAGGG	0.627																																					NSCLC(105;1359 1603 15961 44567 47947)												0													62	63	63					4																	76797687		2203	4300	6503	SO:0001583	missense	0			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1073C>A	4.37:g.76797687G>T	ENSP00000286719:p.Pro358His		O14831	Missense_Mutation	SNP	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom	p.P358H	ENST00000286719.7	37	c.1073	CCDS34013.1	4	.	.	.	.	.	.	.	.	.	.	G	9.190	1.025877	0.19512	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.39406	1.08	4.7	2.95	0.34219	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	1.627000	0.03523	N	0.221257	T	0.41073	0.1143	N	0.14661	0.345	0.09310	N	1	P;P	0.47677	0.899;0.832	P;P	0.54460	0.639;0.753	T	0.27673	-1.0067	10	0.62326	D	0.03	-14.0192	4.8382	0.13474	0.1931:0.1791:0.6277:0.0	.	358;358	O14830-2;O14830	.;PPE2_HUMAN	H	358	ENSP00000286719:P358H	ENSP00000286719:P358H	P	-	2	0	PPEF2	77016711	0.212000	0.23540	0.001000	0.08648	0.002000	0.02628	1.500000	0.35682	0.416000	0.25844	0.491000	0.48974	CCC	PPEF2	-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase	ENSG00000156194		0.627	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	HGNC	protein_coding	OTTHUMT00000362929.1	-	0	36	0	G	NM_006239		76797687	-1	tier1	-	no_errors	ENST00000286719	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.001	T	T	76797687	G	T	76797687	3	4	139	1	0	0	0	0	1	0	0	0	12347	1232	43	3	1216	3	PPEF2	4	76797687	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	70495233	76797687	114356589	48	35490											
FRAS1	80144	genome.wustl.edu	37	chr4	79295323	79295323	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgtacccgctgcaaaggGccatttctcctcttggaagc	8	10	11	12	1	2	0	0	0	2	0	3	2	2	1	3	2	3	3	3	2	3	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:79295323G>A	ENST00000325942.6	+	25	3509	c.3069G>A	c.(3067-3069)ggG>ggA	p.G1023G	FRAS1_ENST00000264895.6_Silent_p.G1023G	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1023			G -> E (in dbSNP:rs17459809).		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						GCTGCAAAGGGCCATTTCTCC	0.502																																																	0													121	118	119					4																	79295323		1939	4154	6093	SO:0001819	synonymous_variant	0			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.3069G>A	4.37:g.79295323G>A			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.G1023	ENST00000325942.6	37	c.3069	CCDS54772.1	4																																																																																			FRAS1	-	superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom	ENSG00000138759		0.502	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2		0	97	0	G			79295323	1			no_errors	ENST00000264895	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.123	A	A	79295323	G	A	79295323	2	1	139	1	0	0	0	0	0	0	0	1	6066	1190	42	3		3	FRAS1	4	79295323	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	2497636	79295323	111858953	49	35491											
MYOZ2	51778	genome.wustl.edu	37	chr4	120079211	120079211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagaatgggaaagtggatgGaagtaacttggaaggtggtt	13	9	17	2	0	0	1	0	0	0	1	0	5	0	5	0	6	1	3	0	6	5	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:120079211G>T	ENST00000307128.5	+	4	494	c.281G>T	c.(280-282)gGa>gTa	p.G94V		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AAAGTGGATGGAAGTAACTTG	0.443																																																	0													151	145	147					4																	120079211		2203	4300	6503	SO:0001583	missense	0			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"chromosome 4 open reading frame 5"	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.281G>T	4.37:g.120079211G>T	ENSP00000306997:p.Gly94Val			Missense_Mutation	SNP	pfam_Calsarcin-bd	p.G94V	ENST00000307128.5	37	c.281	CCDS3711.1	4	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968071	0.34754	.	.	ENSG00000172399	ENST00000307128	T	0.62639	0.01	5.55	3.81	0.43845	.	0.194409	0.44688	D	0.000439	T	0.53674	0.1811	L	0.52759	1.655	0.58432	D	0.999999	P	0.39352	0.669	B	0.38106	0.265	T	0.47289	-0.9129	10	0.32370	T	0.25	-11.2005	10.2709	0.43483	0.0694:0.2562:0.6744:0.0	.	94	Q9NPC6	MYOZ2_HUMAN	V	94	ENSP00000306997:G94V	ENSP00000306997:G94V	G	+	2	0	MYOZ2	120298659	0.862000	0.29867	0.916000	0.36221	0.872000	0.50106	1.243000	0.32767	0.691000	0.31592	0.655000	0.94253	GGA	MYOZ2	-	pfam_Calsarcin-bd	ENSG00000172399		0.443	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOZ2	HGNC	protein_coding	OTTHUMT00000256526.2		0	82	0	G			120079211	1			no_errors	ENST00000307128	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.808	T	T	120079211	G	T	120079211	3	4	139	1	0	0	0	0	1	0	0	0	10134	1174	41	3	291	3	MYOZ2	4	120079211	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	40783888	120079211	71075065	50	35492											
LARP1B	55132	genome.wustl.edu	37	chr4	129120737	129120737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtgtaccacaagtatcGtcgaagatgcctaagtggta	14	9	10	8	2	0	1	0	0	0	1	2	2	0	1	2	1	2	3	2	1	7	4	rs150749510		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:129120737G>T	ENST00000326639.6	+	16	2358	c.2147G>T	c.(2146-2148)cGt>cTt	p.R716L	LARP1B_ENST00000264584.5_Missense_Mutation_p.R657L|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Missense_Mutation_p.R135L|LARP1B_ENST00000441387.1_Missense_Mutation_p.R716L	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	716						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CACAAGTATCGTCGAAGATGC	0.313																																																	0													92	81	85					4																	129120737		2203	4300	6503	SO:0001583	missense	0				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2147G>T	4.37:g.129120737G>T	ENSP00000321997:p.Arg716Leu		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.R716L	ENST00000326639.6	37	c.2147	CCDS3738.1	4	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364112	0.41902	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000441387;ENST00000354456	T;T;T;T	0.29917	1.62;1.61;1.61;1.55	4.72	3.88	0.44766	.	0.174294	0.51477	D	0.000087	T	0.38401	0.1039	M	0.78049	2.395	0.35182	D	0.772558	B;B	0.24317	0.028;0.101	B;B	0.32289	0.022;0.143	T	0.53187	-0.8474	10	0.72032	D	0.01	.	11.2	0.48736	0.1535:0.0:0.8465:0.0	.	135;716	Q659C4-5;Q659C4	.;LAR1B_HUMAN	L	716;657;716;135	ENSP00000321997:R716L;ENSP00000264584:R657L;ENSP00000396521:R716L;ENSP00000346444:R135L	ENSP00000264584:R657L	R	+	2	0	LARP1B	129340187	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.002000	0.49496	1.213000	0.43380	0.455000	0.32223	CGT	LARP1B	-	smart_DM15	ENSG00000138709		0.313	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	HGNC	protein_coding	OTTHUMT00000257173.2	-	0	120	0	G	NM_018078		129120737	1	tier1	-	no_errors	ENST00000326639	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	129120737	G	T	129120737	3	4	139	1	0	0	0	0	1	0	0	0	8657	1145	40	2	2335	2	LARP1B	4	129120737	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	9041526	129120737	62033539	51	35493											
PPID	5481	genome.wustl.edu	37	chr4	159642595	159642595	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaattttccgcagttttGggtacgatatctgcaaacaa	13	12	8	8	3	1	0	0	0	1	0	2	2	2	0	1	1	3	4	1	1	6	6			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:159642595G>T	ENST00000307720.3	-	2	233	c.126C>A	c.(124-126)ccC>ccA	p.P42P		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	42	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		CCGCAGTTTTGGGTACGATAT	0.378																																																	0													98	94	96					4																	159642595		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"Tetratricopeptide (TTC) repeat domain containing"	9257	protein-coding gene	gene with protein product	"cyclophilin 40"	601753	"peptidylprolyl isomerase D (cyclophilin D)"			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.126C>A	4.37:g.159642595G>T			B2R9V2	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.P42	ENST00000307720.3	37	c.126	CCDS3801.1	4																																																																																			PPID	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000171497		0.378	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPID	HGNC	protein_coding	OTTHUMT00000366436.1	-	0	78	0	G	NM_005038		159642595	-1	tier1	-	no_errors	ENST00000307720	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.997	T	T	159642595	G	T	159642595	2	4	139	1	0	0	0	0	0	0	0	1	12363	1335	47	3		3	PPID	4	159642595	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	30521858	159642595	31511681	52	35494											
ASB5	140458	genome.wustl.edu	37	chr4	177136878	177136878	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaaagagagcttggggtaGctacaagaagacatgaatct	15	8	13	5	0	1	4	0	1	1	3	1	5	1	4	0	3	3	4	0	3	7	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:177136878G>T	ENST00000296525.3	-	7	976	c.863C>A	c.(862-864)gCt>gAt	p.A288D	ASB5_ENST00000512254.1_Splice_Site_p.A235D	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	288	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.A288G(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GCTTGGGGTAGCTACAAGAAG	0.353																																																	1	Substitution - Missense(1)	lung(1)											91	88	89					4																	177136878		2203	4300	6503	SO:0001630	splice_region_variant	0			AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"Ankyrin repeat domain containing"	17180	protein-coding gene	gene with protein product		615050	"ankyrin repeat and SOCS box-containing 5"				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.863-1C>A	4.37:g.177136878G>T			Q8N7B5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.A288D	ENST00000296525.3	37	c.863	CCDS3827.1	4	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833283	0.71258	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.28255	1.62;1.62	5.16	5.16	0.70880	SOCS protein, C-terminal (1);Ankyrin repeat-containing domain (1);	0.101195	0.64402	D	0.000002	T	0.46092	0.1375	M	0.73430	2.235	0.80722	D	1	P;P	0.48834	0.576;0.916	B;P	0.48063	0.244;0.565	T	0.53933	-0.8368	10	0.87932	D	0	.	18.6501	0.91428	0.0:0.0:1.0:0.0	.	288;235	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	D	288;235	ENSP00000296525:A288D;ENSP00000422877:A235D	ENSP00000296525:A288D	A	-	2	0	ASB5	177373872	1.000000	0.71417	0.657000	0.29651	0.880000	0.50808	5.047000	0.64232	2.392000	0.81423	0.591000	0.81541	GCT	ASB5	-	pfscan_SOCS_C	ENSG00000164122		0.353	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB5	HGNC	protein_coding	OTTHUMT00000362344.1	-	0	56	0	G		Missense_Mutation	177136878	-1	tier1	-	no_errors	ENST00000296525	ensembl	human	known	74_37	missense	42.86	8	6	SNP	1.000	T	T	177136878	G	T	177136878	5	4	139	1	0	0	0	0	0	0	1	0	1027	985	34	3	130	3	ASB5	4	177136878	Splice_Site	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	17494283	177136878	14017398	53	35495											
F11	2160	genome.wustl.edu	37	chr4	187192834	187192834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacggtcttcacaccaagcGccaagtactgccaggtagtc	10	8	9	14	2	2	0	1	0	1	0	3	0	2	0	3	2	4	2	3	2	5	4	rs281875264		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:187192834G>A	ENST00000403665.2	+	3	479	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	F11_ENST00000264692.4_Missense_Mutation_p.A43T|F11_ENST00000492972.2_Missense_Mutation_p.A43T	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	43	Apple 1. {ECO:0000255|PROSITE- ProRule:PRU00315}.		A -> T (in FA11D; dominant-negative mutation that results in severely decreased protein secretion; dbSNP:rs281875264). {ECO:0000269|PubMed:21457405}.		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)	p.A43S(1)		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)	CACACCAAGCGCCAAGTACTG	0.488																																																	1	Substitution - Missense(1)	lung(1)											199	156	171					4																	187192834		2203	4300	6503	SO:0001583	missense	0			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.127G>A	4.37:g.187192834G>A	ENSP00000384957:p.Ala43Thr		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.A43T	ENST00000403665.2	37	c.127	CCDS3847.1	4	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420074	0.42918	.	.	ENSG00000088926	ENST00000403665;ENST00000264692;ENST00000492972	D;D;D	0.89746	-2.56;-2.56;-2.56	6.17	3.53	0.40419	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.225652	0.38959	N	0.001513	D	0.92844	0.7724	M	0.75447	2.3	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85562	0.1228	10	0.72032	D	0.01	.	8.7548	0.34639	0.1294:0.0:0.7461:0.1245	.	43	P03951	FA11_HUMAN	T	43	ENSP00000384957:A43T;ENSP00000264692:A43T;ENSP00000424479:A43T	ENSP00000264692:A43T	A	+	1	0	F11	187429828	0.231000	0.23751	0.004000	0.12327	0.003000	0.03518	1.842000	0.39250	0.481000	0.27557	-0.181000	0.13052	GCC	F11	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app	ENSG00000088926		0.488	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11	HGNC	protein_coding	OTTHUMT00000317519.4		0	79	0	G			187192834	1			no_errors	ENST00000403665	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.012	A	A	187192834	G	A	187192834	3	1	139	1	0	0	0	0	1	0	0	0	5353	1087	38	1	133	1	F11	4	187192834	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	10055956	187192834	3961442	54	35496											
DNAH5	1767	genome.wustl.edu	37	chr5	13737516	13737516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	acccctgggtacttgtcaggCggtaaagcaagttatcttct	9	12	10	10	1	3	0	1	0	2	0	3	0	3	0	2	3	2	4	2	3	5	5	rs138838869	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:13737516C>T	ENST00000265104.4	-	66	11404	c.11300G>A	c.(11299-11301)cGc>cAc	p.R3767H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3767	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3767H(2)		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)					ACTTGTCAGGCGGTAAAGCAA	0.428									Kartagener syndrome																																								2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|prostate(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	188	171	177		11300	5.7	1	5	dbSNP_134	177	0,8600		0,0,4300	no	missense	DNAH5	NM_001369.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	3767/4625	13737516	1,13005	2203	4300	6503	SO:0001583	missense	0	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.11300G>A	5.37:g.13737516C>T	ENSP00000265104:p.Arg3767His		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R3767H	ENST00000265104.4	37	c.11300	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464920	0.84425	2.27E-4	0.0	ENSG00000039139	ENST00000265104	T	0.33654	1.4	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	M	0.94021	3.485	0.58432	D	0.999998	D	0.89917	1.0	D	0.74674	0.984	T	0.77164	-0.2688	10	0.87932	D	0	.	14.9446	0.71020	0.0:0.9298:0.0:0.0702	.	3767	Q8TE73	DYH5_HUMAN	H	3767	ENSP00000265104:R3767H	ENSP00000265104:R3767H	R	-	2	0	DNAH5	13790516	0.947000	0.32204	0.981000	0.43875	0.808000	0.45660	2.178000	0.42519	2.689000	0.91719	0.655000	0.94253	CGC	DNAH5	-	NULL	ENSG00000039139		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	91	0	C	NM_001369		13737516	-1	tier1	rs138838869	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	22.55	79	23	SNP	0.985	T	T	13737516	C	T	13737516	3	4	139	1	0	0	0	0	1	0	0	0	4618	768	27	1	2630	1	DNAH5	5	13737516	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09		13737516	167177744	55	35497											
C5orf42	65250	genome.wustl.edu	37	chr5	37224379	37224380	+	Frame_Shift_Ins	INS	-	-	T																															tcttcgatttcttgtagagcINSttttttccacagctgaacag																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:37224379_37224380insT	ENST00000508244.1	-	13	2649_2650	c.2556_2557insA	c.(2554-2559)aaagctfs	p.A853fs	C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.A853fs|C5orf42_ENST00000274258.7_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	853						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)			TCTTGTAGAGCTTTTTTCCACA	0.317																																																	0																																										SO:0001589	frameshift_variant	0				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.2557dupA	5.37:g.37224385_37224385dupT	ENSP00000421690:p.Ala853fs		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Frame_Shift_Ins	INS	superfamily_Quino_amine_DH_bsu	p.A852fs	ENST00000508244.1	37	c.2557_2556	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.317	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1		0	53	0	-	NM_023073		37224380	-1	tier1		no_errors	ENST00000425232	ensembl	human	known	74_37	frame_shift_ins	45.59	37	31	INS	0.994:0.991	T	T	37224380	-	T	37224379	7	5	139	1	0	1	1	0	0	0	0	0	2308	797	28	0	7192	0	C5orf42	5	37224379	Frame_Shift_Ins	INS	-	TCGA-R6-A6DN-01B-11D-A31U-09	23486863	37224379	143690881	56	35498											
HCN1	348980	genome.wustl.edu	37	chr5	45262335	45262335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgagggctgcgaggcGgagagtggcctgacttcccg	6	5	19	11	4	0	2	0	1	0	1	1	5	1	2	2	5	2	2	2	5	0	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:45262335G>A	ENST00000303230.4	-	8	2418	c.2361C>T	c.(2359-2361)tcC>tcT	p.S787S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	787					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)	p.S787S(1)		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						GCTGCGAGGCGGAGAGTGGCC	0.622																																																	1	Substitution - coding silent(1)	endometrium(1)											68	65	66					5																	45262335		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2361C>T	5.37:g.45262335G>A				Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.S787	ENST00000303230.4	37	c.2361	CCDS3952.1	5																																																																																			HCN1	-	NULL	ENSG00000164588		0.622	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	30	0	G	NM_021072		45262335	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	silent	33.33	14	7	SNP	0.205	A	A	45262335	G	A	45262335	2	1	139	1	0	0	0	0	0	0	0	1	7023	1103	39	1		1	HCN1	5	45262335	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	8037956	45262335	135652925	57	35499											
DHX29	54505	genome.wustl.edu	37	chr5	54579423	54579423	+	Frame_Shift_Del	DEL	C	C	-																															ctcatccgaaactaaattttCccaagattcctcgggatctt																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:54579423delC	ENST00000251636.5	-	11	1721	c.1573delG	c.(1573-1575)gaafs	p.E525fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	525						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ACTAAATTTTCCCAAGATTCC	0.388																																																	0													119	119	119					5																	54579423		2203	4300	6503	SO:0001589	frameshift_variant	0			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1573delG	5.37:g.54579423delC	ENSP00000251636:p.Glu525fs		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Frame_Shift_Del	DEL	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E525fs	ENST00000251636.5	37	c.1573	CCDS34158.1	5																																																																																			DHX29	-	NULL	ENSG00000067248		0.388	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1		0	57	0	C	NM_019030		54579423	-1	tier1		no_errors	ENST00000251636	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	1.000	-	-	54579423	C	-	54579423	7	5	139	1	0	1	0	1	0	0	0	0	4517	864	30	0	2604	0	DHX29	5	54579423	Frame_Shift_Del	DEL	C	TCGA-R6-A6DN-01B-11D-A31U-09	9317088	54579423	126335837	58	35500											
SLC30A5	64924	genome.wustl.edu	37	chr5	68396658	68396658	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaaatatattgtgttactAtgtttcactaaatttttgaa	15	18	4	4	0	1	1	1	1	0	0	1	1	1	1	0	0	1	2	0	0	9	9			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:68396658A>G	ENST00000396591.3	+	2	718	c.108A>G	c.(106-108)ctA>ctG	p.L36L	SLC30A5_ENST00000502979.1_Intron|SLC30A5_ENST00000380860.4_Silent_p.L36L	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	36					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)		TTGTGTTACTATGTTTCACTA	0.284																																																	0													55	57	57					5																	68396658		2203	4295	6498	SO:0001819	synonymous_variant	0			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.108A>G	5.37:g.68396658A>G			B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.L36	ENST00000396591.3	37	c.108	CCDS3996.1	5																																																																																			SLC30A5	-	NULL	ENSG00000145740		0.284	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	-	0	49	0	A			68396658	1	tier1	-	no_errors	ENST00000396591	ensembl	human	known	74_37	silent	17.02	39	8	SNP	0.435	G	G	68396658	A	G	68396658	2	3	139	1	0	0	0	0	0	0	0	1	14603	436	16	4		4	SLC30A5	5	68396658	Silent	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09	13817235	68396658	112518602	59	35501											
PCDHGA5	56110	genome.wustl.edu	37	chr5	140744933	140744933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtgaatgacaatgcccccGaagtgatcctcacctctctg	10	9	8	14	2	2	3	1	3	1	0	4	4	3	3	4	0	1	0	4	0	3	0			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:140744933G>A	ENST00000518069.1	+	1	1036	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	346	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E346K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCCCCCGAAGTGATCCT	0.512																																																	1	Substitution - Missense(1)	large_intestine(1)											100	103	102					5																	140744933		2098	4246	6344	SO:0001583	missense	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1036G>A	5.37:g.140744933G>A	ENSP00000429834:p.Glu346Lys		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E346K	ENST00000518069.1	37	c.1036	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	16.04	3.010101	0.54361	.	.	ENSG00000253485	ENST00000518069	T	0.38401	1.14	5.52	4.66	0.58398	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.53498	0.1800	L	0.47078	1.49	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.47420	-0.9119	9	0.62326	D	0.03	.	14.3276	0.66530	0.0722:0.0:0.9278:0.0	.	346;346	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	K	346	ENSP00000429834:E346K	ENSP00000429834:E346K	E	+	1	0	PCDHGA5	140725117	0.018000	0.18449	0.814000	0.32528	0.971000	0.66376	1.454000	0.35178	1.478000	0.48253	-0.253000	0.11424	GAA	PCDHGA5	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000253485		0.512	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	-	0	65	0	G	NM_018918		140744933	1	tier1	-	no_errors	ENST00000518069	ensembl	human	known	74_37	missense	51.28	19	20	SNP	0.081	A	A	140744933	G	A	140744933	3	1	139	1	0	0	0	0	1	0	0	0	11596	1059	37	1	1038	1	PCDHGA5	5	140744933	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	72348275	140744933	40170327	60	35502											
SH3RF2	153769	genome.wustl.edu	37	chr5	145428710	145428710	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaaagggagaaggcgtcagGgtcctggggaagtgccagga	12	4	18	7	1	1	1	1	0	0	1	2	4	2	3	2	6	1	0	2	6	4	0	rs375118719		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:145428710G>A	ENST00000511217.1	+	6	1276	c.1224G>A	c.(1222-1224)agG>agA	p.R408R	SH3RF2_ENST00000359120.4_Silent_p.R408R			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	408	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)			AAGGCGTCAGGGTCCTGGGGA	0.592											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G		0,4406		0,0,2203	65	62	63		1224	4.3	1	5		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SH3RF2	NM_152550.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		408/730	145428710	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1224G>A	5.37:g.145428710G>A		1694	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.R408	ENST00000511217.1	37	c.1224	CCDS4280.1	5																																																																																			SH3RF2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000156463		0.592	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	-	0	77	0	G	NM_152550		145428710	1	tier1	-	no_errors	ENST00000359120	ensembl	human	known	74_37	silent	29.73	26	11	SNP	1.000	A	A	145428710	G	A	145428710	2	1	139	1	0	0	0	0	0	0	0	1	14304	1223	43	3		3	SH3RF2	5	145428710	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	4683777	145428710	35486550	61	35503											
GRIA1	2890	genome.wustl.edu	37	chr5	153190785	153190785	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggagccacgggattgtaActggagcagatggagacccc	10	7	15	9	1	0	2	0	0	0	2	0	6	0	5	3	4	3	2	3	4	1	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:153190785A>C	ENST00000285900.5	+	16	3064	c.2721A>C	c.(2719-2721)taA>taC	p.*907Y	GRIA1_ENST00000518142.1_Nonstop_Mutation_p.*827Y|GRIA1_ENST00000340592.5_Nonstop_Mutation_p.*907Y|GRIA1_ENST00000448073.4_Nonstop_Mutation_p.*917Y|GRIA1_ENST00000518783.1_Nonstop_Mutation_p.*917Y|GRIA1_ENST00000521843.2_Nonstop_Mutation_p.*838Y	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	0					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)	CGGGATTGTAACTGGAGCAGA	0.557																																																	0													37	35	36					5																	153190785		2203	4300	6503	SO:0001578	stop_lost	0				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.2721A>C	5.37:g.153190785A>C	ENSP00000285900:p.*907Tyrext*52		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Nonstop_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.*917Y	ENST00000285900.5	37	c.2751	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	A	19.32	3.805780	0.70682	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6204	0.33857	0.914:0.0:0.086:0.0	.	.	.	.	Y	907;907;827;907;840;838;917;917	.	.	X	+	3	2	GRIA1	153170978	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.788000	0.75105	1.888000	0.54679	0.459000	0.35465	TAA	GRIA1	-	NULL	ENSG00000155511		0.557	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	-	0	26	0	A			153190785	1	tier1	-	no_errors	ENST00000448073	ensembl	human	known	74_37	nonstop	38.10	13	8	SNP	1.000	C	C	153190785	A	C	153190785	4	2	139	1	0	0	0	0	0	0	0	0	6794	50	2	4	2902	4	GRIA1	5	153190785	Nonstop_Mutation	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09	7762075	153190785	27724475	62	35504											
IL12B	3593	genome.wustl.edu	37	chr5	158750268	158750268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgataccatcttcttcaGgggtgtcacaggtgaggacc	9	10	13	9	0	4	2	2	2	2	0	4	3	4	3	2	5	1	0	2	5	1	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:158750268G>T	ENST00000231228.2	-	3	613	c.158C>A	c.(157-159)cCt>cAt	p.P53H		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	53	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTTCTTCAGGGGTGTCACA	0.507																																																	0													90	81	84					5																	158750268		2203	4300	6503	SO:0001583	missense	0			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5970	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor-2", "cytotoxic lymphocyte maturation factor 2, p40", "interleukin 12, p40", "natural killer cell stimulatory factor, 40 kD subunit", "interleukin-12 beta chain", "IL12, subunit p40"	161561	"interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.158C>A	5.37:g.158750268G>T	ENSP00000231228:p.Pro53His			Missense_Mutation	SNP	pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL-12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P53H	ENST00000231228.2	37	c.158	CCDS4346.1	5	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355807	0.41700	.	.	ENSG00000113302	ENST00000231228	T	0.21932	1.98	6.17	2.32	0.28847	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.739984	0.14132	N	0.339286	T	0.19846	0.0477	M	0.63428	1.95	0.09310	N	1	P	0.47841	0.901	B	0.42771	0.397	T	0.13683	-1.0500	10	0.17369	T	0.5	-17.4449	6.1456	0.20283	0.1106:0.0:0.6083:0.2811	.	53	P29460	IL12B_HUMAN	H	53	ENSP00000231228:P53H	ENSP00000231228:P53H	P	-	2	0	IL12B	158682846	0.206000	0.23470	0.018000	0.16275	0.996000	0.88848	0.949000	0.29109	0.140000	0.18849	0.655000	0.94253	CCT	IL12B	-	pirsf_IL-12_beta,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000113302		0.507	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12B	HGNC	protein_coding	OTTHUMT00000252652.2	-	0	62	0	G	NM_002187		158750268	-1	tier1	-	no_errors	ENST00000231228	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.037	T	T	158750268	G	T	158750268	3	4	139	1	0	0	0	0	1	0	0	0	7652	1000	35	3	848	3	IL12B	5	158750268	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	5559483	158750268	22164992	63	35505											
SLC17A4	10050	genome.wustl.edu	37	chr6	25762254	25762254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgatggcaatttaaacGtggctcaagaggaatgctcc	12	9	11	9	1	1	2	1	1	0	1	2	3	2	3	2	3	2	3	2	3	5	2	rs576691816		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:25762254G>A	ENST00000377905.4	+	2	183	c.64G>A	c.(64-66)Gtg>Atg	p.V22M	SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Missense_Mutation_p.V22M	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	22					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						CAATTTAAACGTGGCTCAAGA	0.428													G|||	1	0.000199681	0	0	5008	,	,		17897	0		0	False		,,,				2504	0.001																0													82	74	77					6																	25762254		2203	4300	6503	SO:0001583	missense	0			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.64G>A	6.37:g.25762254G>A	ENSP00000367137:p.Val22Met		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V22M	ENST00000377905.4	37	c.64	CCDS4564.1	6	.	.	.	.	.	.	.	.	.	.	G	2.158	-0.392988	0.04899	.	.	ENSG00000146039	ENST00000377905;ENST00000439485	T;T	0.74842	-0.2;-0.88	4.23	-8.46	0.00942	Major facilitator superfamily domain, general substrate transporter (1);	1.604120	0.03434	N	0.208294	T	0.18635	0.0447	N	0.08118	0	0.09310	N	0.999999	B;B	0.28512	0.002;0.214	B;B	0.16289	0.003;0.015	T	0.10245	-1.0638	10	0.15952	T	0.53	.	3.2576	0.06837	0.2171:0.2481:0.4132:0.1216	.	22;22	E7EPE8;Q9Y2C5	.;S17A4_HUMAN	M	22	ENSP00000367137:V22M;ENSP00000391345:V22M	ENSP00000367137:V22M	V	+	1	0	SLC17A4	25870233	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-1.453000	0.02383	-1.899000	0.01098	-0.416000	0.06073	GTG	SLC17A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000146039		0.428	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	-	0	90	0	G			25762254	1	tier1	-	no_errors	ENST00000377905	ensembl	human	known	74_37	missense	64.10	14	25	SNP	0.000	A	A	25762254	G	A	25762254	3	1	139	1	0	0	0	0	1	0	0	0	14464	1145	40	1	66	1	SLC17A4	6	25762254	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09		25762254	145352813	64	35506											
HIST1H3C	8352	genome.wustl.edu	37	chr6	26045794	26045794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accgtggccttgcgcgaaatCcgtcgctaccagaagtccac	9	7	10	15	5	0	1	0	0	0	1	3	2	2	1	5	1	2	1	5	1	3	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:26045794C>T	ENST00000540144.1	+	1	156	c.156C>T	c.(154-156)atC>atT	p.I52I	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	52					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						TGCGCGAAATCCGTCGCTACC	0.622																																																	0													49	52	51					6																	26045794		2203	4300	6503	SO:0001819	synonymous_variant	0			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.156C>T	6.37:g.26045794C>T			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.I52	ENST00000540144.1	37	c.156	CCDS4576.1	6																																																																																			HIST1H3C	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000196532		0.622	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3C	HGNC	protein_coding	OTTHUMT00000040078.1	-	0	67	0	C	NM_003531		26045794	1	tier1	-	no_errors	ENST00000540144	ensembl	human	known	74_37	silent	55.56	32	40	SNP	1.000	T	T	26045794	C	T	26045794	2	4	139	1	0	0	0	0	0	0	0	1	7184	845	30	3		3	HIST1H3C	6	26045794	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	283540	26045794	145069273	65	35507											
TCF19	6941	genome.wustl.edu	37	chr6	31129244	31129244	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactttggtcaataatgtcCgactcccaagaggtcacagg	11	10	10	10	1	2	1	2	0	0	1	4	2	4	1	2	3	1	1	2	3	4	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:31129244C>T	ENST00000376257.3	+	3	1013	c.259C>T	c.(259-261)Cga>Tga	p.R87*	TCF19_ENST00000376255.4_Nonsense_Mutation_p.R87*	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	87	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CAATAATGTCCGACTCCCAAG	0.512																																																	0													103	109	107					6																	31129244		1201	2528	3729	SO:0001587	stop_gained	0			U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"Zinc fingers, PHD-type"	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.259C>T	6.37:g.31129244C>T	ENSP00000365433:p.Arg87*		A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Nonsense_Mutation	SNP	pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom	p.R87*	ENST00000376257.3	37	c.259	CCDS43446.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.917819	0.97105	.	.	ENSG00000137310	ENST00000376257;ENST00000376255;ENST00000542218	.	.	.	5.42	4.46	0.54185	.	0.059871	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.3949	14.4394	0.67306	0.1576:0.8424:0.0:0.0	.	.	.	.	X	87;87;7	.	ENSP00000365431:R87X	R	+	1	2	TCF19	31237223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.707000	0.47143	2.535000	0.85469	0.549000	0.68633	CGA	TCF19	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	ENSG00000137310		0.512	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF19	HGNC	protein_coding	OTTHUMT00000076595.2		0	48	0	C	NM_007109		31129244	1			no_errors	ENST00000376255	ensembl	human	known	74_37	nonsense	7.69	36	3	SNP	1.000	T	T	31129244	C	T	31129244	4	4	139	1	0	0	0	0	0	1	0	0	15736	644	23	1	265	1	TCF19	6	31129244	Nonsense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	5083450	31129244	139985823	66	35508											
IMPG1	3617	genome.wustl.edu	37	chr6	76640790	76640790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtttgcagcgacactccGcttcctcagtccgttcgttc	4	13	9	15	4	1	0	1	0	0	0	6	1	4	0	3	1	2	5	3	1	0	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:76640790G>A	ENST00000369950.3	-	15	2312	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	Y_RNA_ENST00000363170.1_RNA|IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.A708V(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCGACACTCCGCTTCCTCAGT	0.562																																					Pancreas(37;839 1141 2599 26037)												1	Substitution - Missense(1)	breast(1)											107	85	93					6																	76640790		2203	4300	6503	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2123C>T	6.37:g.76640790G>A	ENSP00000358966:p.Ala708Val			Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.A708V	ENST00000369950.3	37	c.2123	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575066	0.45902	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.32272	1.74;1.46	5.45	1.74	0.24563	Epidermal growth factor-like, type 3 (1);	0.411437	0.21614	N	0.071755	T	0.33585	0.0868	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07501	-1.0769	10	0.45353	T	0.12	.	9.1989	0.37246	0.2857:0.0:0.7143:0.0	.	708	Q17R60	IMPG1_HUMAN	V	708;69	ENSP00000358966:A708V;ENSP00000358968:A69V	ENSP00000358966:A708V	A	-	2	0	IMPG1	76697510	1.000000	0.71417	0.037000	0.18230	0.186000	0.23388	4.108000	0.57817	0.028000	0.15324	-0.677000	0.03784	GCG	IMPG1	-	pfscan_EG-like_dom	ENSG00000112706		0.562	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	-	0	40	0	G	NM_001563		76640790	-1	tier1	-	no_errors	ENST00000369950	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.876	A	A	76640790	G	A	76640790	3	1	139	1	0	0	0	0	1	0	0	0	7755	1087	38	1	282	1	IMPG1	6	76640790	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	45511546	76640790	94474277	67	35509											
SNAP91	9892	genome.wustl.edu	37	chr6	84284746	84284746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taccaaaggtgcacttggtgGaacgcctgctgaccaggttg	9	9	13	10	1	0	1	0	1	0	0	0	2	0	2	3	4	4	3	3	4	3	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:84284746G>A	ENST00000439399.2	-	26	2741	c.2425C>T	c.(2425-2427)Cca>Tca	p.P809S	SNAP91_ENST00000520302.1_Missense_Mutation_p.P779S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P809S|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000369694.2_Missense_Mutation_p.P809S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P502S|SNAP91_ENST00000428679.2_Missense_Mutation_p.P809S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P502S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P804S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P804S	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	809	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCACTTGGTGGAACGCCTGCT	0.502																																																	0													48	49	49					6																	84284746		2010	4174	6184	SO:0001583	missense	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2425C>T	6.37:g.84284746G>A	ENSP00000400459:p.Pro809Ser		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.P809S	ENST00000439399.2	37	c.2425	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274793	0.59649	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.21191	2.6;2.6;2.6;2.6;2.6;2.58;2.6;2.6;2.58;2.02	5.52	4.65	0.58169	.	0.331184	0.36002	N	0.002859	T	0.23649	0.0572	L	0.57536	1.79	0.09310	N	1	B;D;D;D;P	0.69078	0.004;0.997;0.957;0.957;0.611	B;D;P;P;B	0.67900	0.002;0.954;0.66;0.66;0.205	T	0.06935	-1.0799	10	0.45353	T	0.12	-5.8144	9.9118	0.41411	0.0736:0.2839:0.6425:0.0	.	685;502;779;809;807	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	S	804;809;809;804;809;502;779;809;502;150	ENSP00000429776:P804S;ENSP00000358708:P809S;ENSP00000400459:P809S;ENSP00000195649:P804S;ENSP00000412492:P809S;ENSP00000413277:P502S;ENSP00000428511:P779S;ENSP00000428215:P809S;ENSP00000428026:P502S;ENSP00000430255:P150S	ENSP00000195649:P804S	P	-	1	0	SNAP91	84341465	0.999000	0.42202	0.038000	0.18304	0.352000	0.29268	3.562000	0.53777	1.322000	0.45245	-0.274000	0.10170	CCA	SNAP91	-	NULL	ENSG00000065609		0.502	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	-	0	34	0	G			84284746	-1	tier1	-	no_errors	ENST00000369694	ensembl	human	known	74_37	missense	62.50	6	10	SNP	0.083	A	A	84284746	G	A	84284746	3	1	139	1	0	0	0	0	1	0	0	0	14878	1174	41	3	314	3	SNAP91	6	84284746	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	7643956	84284746	86830321	68	35510											
EPHA7	2045	genome.wustl.edu	37	chr6	93965557	93965558	+	Missense_Mutation	DNP	AG	AG	GA																															ttttcttacagtagttgtatAgacagcttctggatcatcct																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A|G	A|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:93965557_93965558AG>GA	ENST00000369303.4	-	13	2554_2555	c.2370_2371CT>TC	c.(2368-2373)gtCTat>gtTCat	p.Y791H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	791	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTAGTTGTATAGACAGCTTCTG	0.386																																																	0																																										SO:0001583	missense	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2370_2371delinsGA	6.37:g.93965557_93965558delinsGA	ENSP00000358309:p.Tyr791His		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation|Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.Y791H|p.V790	ENST00000369303.4	37	c.2371|c.2370	CCDS5031.1	6																																																																																			EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135333		0.386	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	-	0	61	0	A|G			93965557|93965558	-1	tier1	-	no_errors	ENST00000369303	ensembl	human	known	74_37	missense|silent	82.35	3	14	SNP	1.000	G|A	GA	93965558	AG	GA	93965557	3	3	139	1	0	0	0	0	1	0	0	0	5188	420	15	4	645	4	EPHA7	6	93965557	Missense_Mutation	DNP	AG	TCGA-R6-A6DN-01B-11D-A31U-09	9680811	93965557	77149510	69	35511											
SOBP	55084	genome.wustl.edu	37	chr6	107955219	107955219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtgatgaccaaccgcGgcccggtgccgctgcccatc	6	6	12	17	4	0	2	0	2	0	0	1	2	0	2	6	3	3	1	6	3	1	0			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:107955219G>T	ENST00000317357.5	+	6	1830	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GACCAACCGCGGCCCGGTGCC	0.662																																																	0													62	70	67					6																	107955219		2010	4169	6179	SO:0001583	missense	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1171G>T	6.37:g.107955219G>T	ENSP00000318900:p.Gly391Cys			Missense_Mutation	SNP	NULL	p.G391C	ENST00000317357.5	37	c.1171	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965778	0.74131	.	.	ENSG00000112320	ENST00000317357	T	0.38077	1.16	5.46	5.46	0.80206	.	0.128326	0.51477	D	0.000082	T	0.47710	0.1460	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47799	-0.9089	10	0.66056	D	0.02	-11.2294	19.3015	0.94145	0.0:0.0:1.0:0.0	.	391	A7XYQ1	SOBP_HUMAN	C	391	ENSP00000318900:G391C	ENSP00000318900:G391C	G	+	1	0	SOBP	108061912	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.014000	0.93635	2.552000	0.86080	0.561000	0.74099	GGC	SOBP	-	NULL	ENSG00000112320		0.662	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	-	0	36	0	G	NM_018013		107955219	1	tier1	-	no_errors	ENST00000317357	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	107955219	G	T	107955219	3	4	139	1	0	0	0	0	1	0	0	0	14957	1116	39	2	1193	2	SOBP	6	107955219	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	13989662	107955219	63159848	70	35512											
MAP3K5	4217	genome.wustl.edu	37	chr6	136932475	136932475	+	Silent	SNP	G	G	A	0	0	1	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	agcctctttgatgttccgaaGtcagagatcttgagaacacc	11	11	9	10	1	3	3	1	2	2	2	4	6	4	3	3	0	2	1	3	0	2	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:136932475G>A	ENST00000359015.4	-	18	2826	c.2466C>T	c.(2464-2466)gaC>gaT	p.D822D	MAP3K5_ENST00000355845.4_Silent_p.D69D	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGTTCCGAAGTCAGAGATCT	0.363																																																	0													155	145	148					6																	136932475		2203	4300	6503	SO:0001819	synonymous_variant	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2466C>T	6.37:g.136932475G>A			A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D822	ENST00000359015.4	37	c.2466	CCDS5179.1	6																																																																																			MAP3K5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000197442		0.363	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0	89	0	G			136932475	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	silent	59.18	39	58	SNP	1.000	A	A	136932475	G	A	136932475	2	1	139	1	0	0	0	0	0	0	0	1	9291	1020	36	3		3	MAP3K5	6	136932475	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	28977256	136932475	34182592	71	35513											
CCR6	1235	genome.wustl.edu	37	chr6	167550105	167550105	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcatctatgccatcaacttTaactgcgggatgctgctcct	8	12	9	12	1	2	0	1	0	1	0	3	1	3	1	2	2	6	3	2	2	3	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:167550105T>C	ENST00000341935.5	+	3	939	c.387T>C	c.(385-387)ttT>ttC	p.F129F	CCR6_ENST00000349984.4_Silent_p.F129F|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.F129F	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	129					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCATCAACTTTAACTGCGGGA	0.522																																																	0													111	107	108					6																	167550105		2203	4300	6503	SO:0001819	synonymous_variant	0			U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.387T>C	6.37:g.167550105T>C			E1P5C6|P78553|Q92846	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR6,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CXCR_1/2	p.F129	ENST00000341935.5	37	c.387	CCDS5298.1	6																																																																																			CCR6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR_1/2	ENSG00000112486		0.522	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCR6	HGNC	protein_coding	OTTHUMT00000043118.1	-	0	19	0	T			167550105	1	tier1	-	no_errors	ENST00000341935	ensembl	human	known	74_37	silent	37.50	5	3	SNP	0.889	C	C	167550105	T	C	167550105	2	2	139	1	0	0	0	0	0	0	0	1	2952	1751	61	4		4	CCR6	6	167550105	Silent	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09	30617630	167550105	3564962	72	35514											
TMEM195	392636	genome.wustl.edu	37	chr7	15425155	15425155	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctttaatagctgagatgaAgatgatgagaagggaacttc	15	11	11	4	0	1	5	0	4	1	3	2	8	1	6	0	1	2	1	0	1	5	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:15425155A>T	ENST00000342526.3	-	10	1159	c.990T>A	c.(988-990)tcT>tcA	p.S330S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	330					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GCTGAGATGAAGATGATGAGA	0.368																																																	0													101	99	99					7																	15425155		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.990T>A	7.37:g.15425155A>T			A4D114|A6NCH5	Silent	SNP	pfam_Fatty_acid_hydroxylase	p.S330	ENST00000342526.3	37	c.990	CCDS34604.1	7																																																																																			AGMO	-	NULL	ENSG00000187546		0.368	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMO	HGNC	protein_coding	OTTHUMT00000326049.2	-	0	74	0	A	NM_001004320		15425155	-1	tier1	-	no_errors	ENST00000342526	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.000	T	T	15425155	A	T	15425155	2	4	139	1	0	0	0	0	0	0	0	1	16164	59	3	5		5	TMEM195	7	15425155	Silent	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09		15425155	143713508	73	35515											
AMPH	273	genome.wustl.edu	37	chr7	38670935	38670935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcttggcgaagatgcccGtcttgatgtcggccatggct	5	12	13	11	4	2	2	0	1	2	1	3	3	2	2	2	3	1	2	2	3	1	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:38670935G>A	ENST00000356264.2	-	1	232	c.17C>T	c.(16-18)aCg>aTg	p.T6M	AMPH_ENST00000325590.5_Missense_Mutation_p.T6M|AMPH_ENST00000428293.2_Missense_Mutation_p.T6M	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	6					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAAGATGCCCGTCTTGATGTC	0.746																																																	0													13	10	11					7																	38670935		2169	4254	6423	SO:0001583	missense	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.17C>T	7.37:g.38670935G>A	ENSP00000348602:p.Thr6Met		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain	p.T6M	ENST00000356264.2	37	c.17	CCDS5456.1	7	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851236	0.91355	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.61158	0.15;0.13;0.16	4.35	3.46	0.39613	.	0.000000	0.64402	D	0.000001	T	0.57125	0.2032	N	0.14661	0.345	0.50467	D	0.999872	D;D	0.89917	1.0;1.0	D;P	0.63597	0.916;0.877	T	0.62950	-0.6745	10	0.87932	D	0	-8.8357	13.0797	0.59107	0.0:0.0:0.8375:0.1625	.	6;6	P49418-2;P49418	.;AMPH_HUMAN	M	6	ENSP00000317441:T6M;ENSP00000348602:T6M;ENSP00000390734:T6M	ENSP00000317441:T6M	T	-	2	0	AMPH	38637460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.060000	0.71141	0.786000	0.33708	0.467000	0.42956	ACG	AMPH	-	prints_Amphiphysin_1	ENSG00000078053		0.746	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	-	0	21	0	G	NM_001635		38670935	-1	tier1	-	no_errors	ENST00000356264	ensembl	human	known	74_37	missense	72.50	11	29	SNP	1.000	A	A	38670935	G	A	38670935	3	1	139	1	0	0	0	0	1	0	0	0	588	1145	40	1	2154	1	AMPH	7	38670935	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	23245780	38670935	120467728	74	35516											
MYL7	58498	genome.wustl.edu	37	chr7	44179994	44179994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cttgccctcttgcagcatggCgtccagctcctcctctggga	4	11	10	16	1	2	0	0	0	2	0	5	1	5	1	4	2	4	3	4	2	0	2	rs150940284		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:44179994C>T	ENST00000223364.3	-	4	252	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_Missense_Mutation_p.A49T	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	76						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						TGCAGCATGGCGTCCAGCTCC	0.647																																																	0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	132	110	117		226	3.5	0.9	7	dbSNP_134	117	0,8600		0,0,4300	no	missense	MYL7	NM_021223.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	76/176	44179994	1,13005	2203	4300	6503	SO:0001583	missense	0			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.226G>A	7.37:g.44179994C>T	ENSP00000223364:p.Ala76Thr		B2R4L3	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.A76T	ENST00000223364.3	37	c.226	CCDS5478.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.09|15.09	2.728727|2.728727	0.48833|0.48833	2.27E-4|2.27E-4	0.0|0.0	ENSG00000106631|ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314;ENST00000447951|ENST00000431007	T;T;T;T;T|.	0.80304|.	-1.36;-1.25;-1.25;-1.25;2.95|.	4.46|4.46	3.55|3.55	0.40652|0.40652	EF-hand-like domain (1);|.	0.354604|.	0.28465|.	N|.	0.015247|.	T|T	0.63271|0.63271	0.2497|0.2497	L|L	0.59912|0.59912	1.85|1.85	0.35810|0.35810	D|D	0.823818|0.823818	B|.	0.17667|.	0.023|.	B|.	0.15870|.	0.014|.	T|T	0.68812|0.68812	-0.5310|-0.5310	10|5	0.37606|.	T|.	0.19|.	.|.	13.0738|13.0738	0.59075|0.59075	0.1624:0.8376:0.0:0.0|0.1624:0.8376:0.0:0.0	.|.	76|.	Q01449|.	MLRA_HUMAN|.	T|H	3;76;49;98;105|88	ENSP00000416010:A3T;ENSP00000223364:A76T;ENSP00000403360:A49T;ENSP00000389202:A98T;ENSP00000403988:A105T|.	ENSP00000223364:A76T|.	A|R	-|-	1|2	0|0	MYL7|MYL7	44146519|44146519	0.205000|0.205000	0.23458|0.23458	0.901000|0.901000	0.35422|0.35422	0.932000|0.932000	0.56968|0.56968	1.259000|1.259000	0.32956|0.32956	0.812000|0.812000	0.34326|0.34326	0.549000|0.549000	0.68633|0.68633	GCC|CGC	MYL7	-	NULL	ENSG00000106631		0.647	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL7	HGNC	protein_coding	OTTHUMT00000059446.4		0	56	0	C	NM_021223		44179994	-1			no_errors	ENST00000223364	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.977	T	T	44179994	C	T	44179994	3	4	139	1	0	0	0	0	1	0	0	0	10091	768	27	1	317	1	MYL7	7	44179994	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	5509059	44179994	114958669	75	35517											
TRIM50	135892	genome.wustl.edu	37	chr7	72727162	72727162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcggtgggggtggccggccaCgggcaggggtacccgggggc	3	3	24	11	4	0	0	0	0	0	0	0	0	0	0	3	10	1	2	3	10	1	1	rs372424421		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:72727162C>T	ENST00000333149.2	-	7	1419	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	TRIM50_ENST00000453152.1_Missense_Mutation_p.V407M	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	407	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					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						TGGCCGGCCACGGGCAGGGGT	0.687																																																	0								C	MET/VAL	1,4379		0,1,2189	16	15	15		1219	3.7	0.1	7		15	0,8560		0,0,4280	no	missense	TRIM50	NM_178125.2	21	0,1,6469	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	407/488	72727162	1,12939	2190	4280	6470	SO:0001583	missense	0			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.1219G>A	7.37:g.72727162C>T	ENSP00000327994:p.Val407Met		Q86XT3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V407M	ENST00000333149.2	37	c.1219	CCDS34654.1	7	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624851	0.28889	2.28E-4	0.0	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.69806	-0.43;-0.43	4.62	3.74	0.42951	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.265332	0.24940	N	0.034396	T	0.64283	0.2584	L	0.28192	0.835	0.09310	N	1	D;D	0.67145	0.995;0.996	P;P	0.60345	0.8;0.873	T	0.53422	-0.8441	10	0.35671	T	0.21	.	8.5391	0.33382	0.0:0.7576:0.155:0.0875	.	406;407	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	M	407	ENSP00000327994:V407M;ENSP00000413875:V407M	ENSP00000327994:V407M	V	-	1	0	TRIM50	72365098	0.962000	0.33011	0.101000	0.21167	0.042000	0.13812	1.476000	0.35420	1.313000	0.45069	0.561000	0.74099	GTG	TRIM50	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000146755		0.687	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM50	HGNC	protein_coding	OTTHUMT00000345925.1	-	0	9	0	C	NM_178125		72727162	-1	tier1	-	no_errors	ENST00000333149	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.035	T	T	72727162	C	T	72727162	3	4	139	1	0	0	0	0	1	0	0	0	16574	536	19	1	248	1	TRIM50	7	72727162	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	28547168	72727162	86411501	76	35518											
ACHE	43	genome.wustl.edu	37	chr7	100490407	100490407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccgtaaaccagaaaataCgagccctcatccttcaccac	13	6	5	17	2	2	1	2	0	0	1	3	2	3	1	6	0	3	1	6	0	5	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:100490407C>T	ENST00000412389.1	-	2	1256	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S	ACHE_ENST00000411582.1_Silent_p.S367S|ACHE_ENST00000428317.1_Silent_p.S367S|ACHE_ENST00000419336.2_Intron|ACHE_ENST00000302913.4_Silent_p.S367S|ACHE_ENST00000241069.5_Silent_p.S367S			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	367					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)	CCAGAAAATACGAGCCCTCAT	0.617																																																	0																																										SO:0001819	synonymous_variant	0				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.1101G>A	7.37:g.100490407C>T			A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.S367	ENST00000412389.1	37	c.1101	CCDS5709.1	7																																																																																			ACHE	-	pfam_CarbesteraseB,prints_Cholinesterase	ENSG00000087085		0.617	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	-	0	71	0	C	NM_015831		100490407	-1	tier1	rs138349745	no_errors	ENST00000302913	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.998	T	T	100490407	C	T	100490407	2	4	139	1	0	0	0	0	0	0	0	1	141	523	19	1		1	ACHE	7	100490407	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	27763245	100490407	58648256	77	35519											
CUX1	1523	genome.wustl.edu	37	chr7	101840007	101840007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagttgccccgcaacccggGggagcaggcttccaatacta	9	7	11	14	2	1	0	1	0	0	0	2	1	2	1	4	3	4	4	4	3	4	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:101840007G>A	ENST00000292535.7	+	15	1354	c.1316G>A	c.(1315-1317)gGg>gAg	p.G439E	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G439E|CUX1_ENST00000550008.2_Missense_Mutation_p.G439E|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.G450E|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000425244.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	439					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)	p.G439V(1)		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						CGCAACCCGGGGGAGCAGGCT	0.597																																																	1	Substitution - Missense(1)	lung(1)											49	60	56					7																	101840007		2203	4300	6503	SO:0001583	missense	0			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.1316G>A	7.37:g.101840007G>A	ENSP00000292535:p.Gly439Glu		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.G450E	ENST00000292535.7	37	c.1349	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	G	2.638	-0.284835	0.05605	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008	T;T;T;T	0.60040	0.22;0.24;0.24;0.28	5.71	4.82	0.62117	.	0.203819	0.40640	N	0.001051	T	0.50497	0.1619	L	0.45137	1.4	0.80722	D	1	B;B	0.27997	0.125;0.197	B;B	0.30716	0.056;0.119	T	0.46048	-0.9219	10	0.32370	T	0.25	-28.7761	14.112	0.65126	0.0716:0.0:0.9284:0.0	.	439;450	P39880;P39880-3	CUX1_HUMAN;.	E	450;439;439;439	ENSP00000353401:G450E;ENSP00000292535:G439E;ENSP00000446630:G439E;ENSP00000447373:G439E	ENSP00000292535:G439E	G	+	2	0	CUX1	101626727	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.286000	0.51724	2.691000	0.91804	0.561000	0.74099	GGG	CUX1	-	NULL	ENSG00000257923		0.597	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	-	0	75	0	G	NM_001913		101840007	1	tier1	-	no_errors	ENST00000360264	ensembl	human	known	74_37	missense	11.54	45	6	SNP	1.000	A	A	101840007	G	A	101840007	3	1	139	1	0	0	0	0	1	0	0	0	4073	1232	43	3	1441	3	CUX1	7	101840007	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	1349600	101840007	57298656	78	35520											
CFTR	1080	genome.wustl.edu	37	chr7	117235062	117235062	+	Frame_Shift_Del	DEL	A	A	-																															ttcgatatattactgtccacAagagcttaatttttgtgcta																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:117235062delA	ENST00000003084.6	+	15	2701	c.2569delA	c.(2569-2571)aagfs	p.K857fs	CFTR_ENST00000454343.1_Frame_Shift_Del_p.K796fs	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	857					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)	TACTGTCCACAAGAGCTTAAT	0.328									Cystic Fibrosis																																								0													147	137	141					7																	117235062		2203	4300	6503	SO:0001589	frameshift_variant	0	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.2569delA	7.37:g.117235062delA	ENSP00000003084:p.Lys857fs		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Frame_Shift_Del	DEL	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.K857fs	ENST00000003084.6	37	c.2569	CCDS5773.1	7																																																																																			CFTR	-	superfamily_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	ENSG00000001626		0.328	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3		0	73	0	A	NM_000492		117235062	1	tier1		no_errors	ENST00000003084	ensembl	human	known	74_37	frame_shift_del	16.98	88	18	DEL	1.000	-	-	117235062	A	-	117235062	7	5	139	1	0	1	0	1	0	0	0	0	3301	131	5	0	2627	0	CFTR	7	117235062	Frame_Shift_Del	DEL	A	TCGA-R6-A6DN-01B-11D-A31U-09	15395055	117235062	41903601	79	35521											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121678904	121678904	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatgggaacataatgtggaAgttattgtcatgataacaaa	17	12	9	3	0	1	1	1	1	0	0	1	3	1	3	0	2	2	1	0	2	7	5			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:121678904A>C	ENST00000393386.2	+	19	5874	c.5463A>C	c.(5461-5463)gaA>gaC	p.E1821D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E954D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1821	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATAATGTGGAAGTTATTGTCA	0.388																																																	0													118	111	113					7																	121678904		2203	4300	6503	SO:0001583	missense	0			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.5463A>C	7.37:g.121678904A>C	ENSP00000377047:p.Glu1821Asp		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.E1821D	ENST00000393386.2	37	c.5463	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699191	0.68501	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	D;D	0.83837	-1.77;-1.77	5.68	4.52	0.55395	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	D	0.000001	T	0.81317	0.4797	N	0.21508	0.67	0.31959	N	0.608654	P;B;D	0.67145	0.885;0.442;0.996	B;P;P	0.62885	0.392;0.597;0.908	T	0.80317	-0.1433	10	0.31617	T	0.26	.	8.9091	0.35541	0.8563:0.0:0.1437:0.0	.	960;954;1821	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	D	1821;954	ENSP00000377047:E1821D;ENSP00000410000:E954D	ENSP00000377047:E1821D	E	+	3	2	PTPRZ1	121466140	0.999000	0.42202	1.000000	0.80357	0.938000	0.57974	0.913000	0.28611	0.977000	0.38444	0.528000	0.53228	GAA	PTPRZ1	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000106278		0.388	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0	82	0	A	NM_002851		121678904	1	tier1	-	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	72.46	19	50	SNP	1.000	C	C	121678904	A	C	121678904	3	2	139	1	0	0	0	0	1	0	0	0	12859	69	3	4	5537	4	PTPRZ1	7	121678904	Missense_Mutation	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09	4443842	121678904	37459759	80	35522											
CSMD1	64478	genome.wustl.edu	37	chr8	2975919	2975919	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgcaaagtgatgaacttAccatcacatcttggaaaagg	15	9	8	9	0	2	2	1	2	1	0	2	3	2	3	2	2	3	1	2	2	5	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:2975919A>T	ENST00000520002.1	-	43	6989		c.e43+1		CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGATGAACTTACCATCACATC	0.373																																																	0													104	97	99					8																	2975919		1954	4138	6092	SO:0001630	splice_region_variant	0					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.6433+1T>A	8.37:g.2975919A>T			Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	-	e43+2	ENST00000520002.1	37	c.6433+2		8	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001895	0.35320	.	.	ENSG00000183117	ENST00000335551;ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7337	0.69402	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	2963326	1.000000	0.71417	0.907000	0.35723	0.047000	0.14425	9.036000	0.93758	1.927000	0.55829	0.460000	0.39030	.	CSMD1	-	-	ENSG00000183117		0.373	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	78	0	A	NM_033225	Intron	2975919	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	splice_site	32.20	40	19	SNP	1.000	T	T	2975919	A	T	2975919	5	4	139	1	0	0	0	0	0	0	1	0	3953	405	14	5	4378	5	CSMD1	8	2975919	Splice_Site	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09		2975919	143388103	81	35523											
MSR1	4481	genome.wustl.edu	37	chr8	16012628	16012628	+	Frame_Shift_Del	DEL	T	T	-																															ccagtgggacctcgatctccTttttcacccgggggtccagg																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:16012628delT	ENST00000262101.5	-	6	964	c.843delA	c.(841-843)aaafs	p.K281fs	MSR1_ENST00000381998.4_Frame_Shift_Del_p.K281fs|MSR1_ENST00000350896.3_Frame_Shift_Del_p.K281fs|MSR1_ENST00000355282.2_Frame_Shift_Del_p.K281fs|MSR1_ENST00000445506.2_Frame_Shift_Del_p.K299fs|MSR1_ENST00000536385.1_Frame_Shift_Del_p.K55fs			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	281	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTCGATCTCCTTTTTCACCCG	0.403																																																	0													63	63	63					8																	16012628		2203	4300	6503	SO:0001589	frameshift_variant	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.843delA	8.37:g.16012628delT	ENSP00000262101:p.Lys281fs		D3DSP3|O60505|P21759|Q45F10	Frame_Shift_Del	DEL	pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR	p.G282fs	ENST00000262101.5	37	c.843	CCDS5995.1	8																																																																																			MSR1	-	pfam_Collagen	ENSG00000038945		0.403	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2		0	84	0	T			16012628	-1	tier1		no_errors	ENST00000262101	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	1.000	-	-	16012628	T	-	16012628	7	5	139	1	0	1	0	1	0	0	0	0	9924	1606	56	0	580	0	MSR1	8	16012628	Frame_Shift_Del	DEL	T	TCGA-R6-A6DN-01B-11D-A31U-09	13036709	16012628	130351394	82	35524											
POLR3D	661	genome.wustl.edu	37	chr8	22106032	22106033	+	Frame_Shift_Ins	INS	-	-	A																															tgaggaacgacactcgaaatINSatgcctgtgcagctgccgct																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:22106032_22106033insA	ENST00000397802.4	+	5	740_741	c.525_526insA	c.(526-528)atgfs	p.M176fs	POLR3D_ENST00000306433.4_Frame_Shift_Ins_p.M176fs			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	176					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)|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)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACACTCGAAATATGCCTGTGCA	0.535																																																	0																																										SO:0001589	frameshift_variant	0			M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"RNA polymerase subunits"	1080	protein-coding gene	gene with protein product		187280	"BN51 (BHK21) temperature sensitivity complementing"	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.526dupA	8.37:g.22106033_22106033dupA	ENSP00000380904:p.Met176fs		Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Frame_Shift_Ins	INS	pfam_RPC4	p.M175fs	ENST00000397802.4	37	c.525_526	CCDS34858.1	8																																																																																			POLR3D	-	NULL	ENSG00000168495		0.535	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3D	HGNC	protein_coding	OTTHUMT00000375434.2		0	35	0	-	NM_001722		22106033	1	tier1		no_errors	ENST00000397802	ensembl	human	known	74_37	frame_shift_ins	26.09	17	6	INS	1.000:1.000	A	A	22106033	-	A	22106032	7	5	139	1	0	1	1	0	0	0	0	0	12270	1403	49	0	543	0	POLR3D	8	22106032	Frame_Shift_Ins	INS	-	TCGA-R6-A6DN-01B-11D-A31U-09	6093404	22106032	124257990	83	35525											
MSC	9242	genome.wustl.edu	37	chr8	72755971	72755971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggaagccagccggagcGtgtccagcttggagagctta	10	7	14	10	2	0	1	0	0	0	1	1	4	1	3	3	3	6	2	3	3	3	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:72755971G>A	ENST00000325509.4	-	1	732	c.443C>T	c.(442-444)aCg>aTg	p.T148M	MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	148	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T148M(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CAGCCGGAGCGTGTCCAGCTT	0.642											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	endometrium(1)											46	48	47					8																	72755971		2203	4300	6503	SO:0001583	missense	0				CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"Basic helix-loop-helix proteins"	7321	protein-coding gene	gene with protein product	"activated B-cell factor-1"	603628	"musculin (activated B-cell factor-1)"			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.443C>T	8.37:g.72755971G>A	ENSP00000321445:p.Thr148Met	1140	O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.T148M	ENST00000325509.4	37	c.443	CCDS43746.1	8	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966618	0.92855	.	.	ENSG00000178860	ENST00000325509	D	0.98381	-4.9	5.07	5.07	0.68467	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99069	1.0833	10	0.87932	D	0	.	18.4569	0.90724	0.0:0.0:1.0:0.0	.	148	O60682	MUSC_HUMAN	M	148	ENSP00000321445:T148M	ENSP00000321445:T148M	T	-	2	0	MSC	72918525	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.634000	0.98435	2.365000	0.80145	0.555000	0.69702	ACG	MSC	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000178860		0.642	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSC	HGNC	protein_coding	OTTHUMT00000378974.1	-	0	77	0	G	NM_005098		72755971	-1	tier1	-	no_errors	ENST00000325509	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	A	A	72755971	G	A	72755971	3	1	139	1	0	0	0	0	1	0	0	0	9906	1145	40	1	185	1	MSC	8	72755971	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	50649939	72755971	73608051	84	35526											
DENND3	22898	genome.wustl.edu	37	chr8	142204174	142204174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggggcagggaacacccaagGggaaaatctacgtgattgac	13	6	14	8	1	1	2	0	2	1	0	1	4	1	4	1	5	2	1	1	5	5	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:142204174G>T	ENST00000262585.2	+	23	3717	c.3439G>T	c.(3439-3441)Ggg>Tgg	p.G1147W	DENND3_ENST00000523308.1_Missense_Mutation_p.G197W|DENND3_ENST00000519811.1_Missense_Mutation_p.G1227W|DENND3_ENST00000424248.1_Missense_Mutation_p.G1095W	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1147					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)			AACACCCAAGGGGAAAATCTA	0.627																																																	0													76	74	75					8																	142204174		2203	4300	6503	SO:0001583	missense	0			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.3439G>T	8.37:g.142204174G>T	ENSP00000262585:p.Gly1147Trp		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.G1147W	ENST00000262585.2	37	c.3439	CCDS34947.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.29|17.29	3.351138|3.351138	0.61183|0.61183	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523308	.|T;T;T;T	.|0.51817	.|0.78;0.78;0.78;0.69	5.14|5.14	5.14|5.14	0.70334|0.70334	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048611|0.048611	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.70298|0.70298	0.3208|0.3208	M|M	0.76002|0.76002	2.32|2.32	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	0.74472|0.74472	-0.3654|-0.3654	6|10	.|0.87932	.|D	.|0	-20.7942|-20.7942	18.6087|18.6087	0.91276|0.91276	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1227;1147	.|E9PF32;A2RUS2	.|.;DEND3_HUMAN	V|W	1151|1147;1095;1227;197	.|ENSP00000262585:G1147W;ENSP00000410594:G1095W;ENSP00000428714:G1227W;ENSP00000430912:G197W	.|ENSP00000262585:G1147W	G|G	+|+	2|1	0|0	DENND3|DENND3	142273356|142273356	1.000000|1.000000	0.71417|0.71417	0.741000|0.741000	0.31004|0.31004	0.112000|0.112000	0.19704|0.19704	4.874000|4.874000	0.63064|0.63064	2.390000|2.390000	0.81377|0.81377	0.591000|0.591000	0.81541|0.81541	GGG|GGG	DENND3	-	superfamily_WD40_repeat_dom	ENSG00000105339		0.627	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding			0	51	0	G	NM_014957		142204174	1			no_errors	ENST00000262585	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	142204174	G	T	142204174	3	4	139	1	0	0	0	0	1	0	0	0	4446	1232	43	3	3525	3	DENND3	8	142204174	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	69448203	142204174	4159848	85	35527											
RHPN1	114822	genome.wustl.edu	37	chr8	144457755	144457755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgacgcagatccagtgcggCcagctgcagagccgcagggc	8	4	15	14	3	0	3	0	1	0	2	1	3	1	3	3	2	4	4	3	2	0	0			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:144457755C>T	ENST00000289013.6	+	2	194	c.93C>T	c.(91-93)ggC>ggT	p.G31G		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	31					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)			TCCAGTGCGGCCAGCTGCAGA	0.667																																																	0													25	32	30					8																	144457755		2126	4233	6359	SO:0001819	synonymous_variant	0			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.93C>T	8.37:g.144457755C>T			Q8TAV1|Q96PV9	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.G31	ENST00000289013.6	37	c.93	CCDS47927.1	8																																																																																			RHPN1	-	superfamily_HR1_rho-bd	ENSG00000158106		0.667	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	-	0	82	0	C			144457755	1	tier1	-	no_errors	ENST00000289013	ensembl	human	known	74_37	silent	5.50	103	6	SNP	1.000	T	T	144457755	C	T	144457755	2	4	139	1	0	0	0	0	0	0	0	1	13395	726	26	3		3	RHPN1	8	144457755	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	2253581	144457755	1906267	86	35528											
NTRK2	4915	genome.wustl.edu	37	chr9	87570289	87570289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatatagcccagcagatcGccgcgggcatggtctacctg	8	8	12	13	3	1	1	0	0	1	1	2	1	1	1	3	2	4	3	3	2	3	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr9:87570289G>A	ENST00000323115.4	+	15	2334	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	NTRK2_ENST00000376213.1_Missense_Mutation_p.A661T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A677T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A677T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	661	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CCAGCAGATCGCCGCGGGCAT	0.637										TSP Lung(25;0.17)																																							0													47	43	44					9																	87570289		2203	4300	6503	SO:0001583	missense	0			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.1981G>A	9.37:g.87570289G>A	ENSP00000314586:p.Ala661Thr		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.A677T	ENST00000323115.4	37	c.2029	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.773433	0.96922	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	4.98	4.98	0.66077	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	0.95762	0.8621	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;0.995;0.997	D	0.96764	0.9563	10	0.87932	D	0	.	18.2752	0.90080	0.0:0.0:1.0:0.0	.	661;677;707	Q16620;Q16620-4;Q59GJ1	NTRK2_HUMAN;.;.	T	677;661;677;661	ENSP00000365387:A677T;ENSP00000365386:A661T;ENSP00000277120:A677T;ENSP00000314586:A661T	ENSP00000277120:A677T	A	+	1	0	NTRK2	86760109	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	9.869000	0.99810	2.320000	0.78422	0.655000	0.94253	GCC	NTRK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000148053		0.637	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1		0	46	0	G			87570289	1			no_errors	ENST00000277120	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	A	A	87570289	G	A	87570289	3	1	139	1	0	0	0	0	1	0	0	0	10746	1087	38	1	2166	1	NTRK2	9	87570289	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09		87570289	53643142	87	35529											
DAPK1	1612	genome.wustl.edu	37	chr9	90322121	90322121	+	Frame_Shift_Del	DEL	A	A	-																															cagtgggcaccctcatgtccAaactgagggagctgggtcgc																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr9:90322121delA	ENST00000408954.3	+	26	4470	c.4135delA	c.(4135-4137)aaafs	p.K1379fs	DAPK1_ENST00000469640.2_Frame_Shift_Del_p.K1404fs|DAPK1_ENST00000358077.5_Frame_Shift_Del_p.K1379fs|DAPK1_ENST00000472284.1_Frame_Shift_Del_p.K1379fs|DAPK1_ENST00000491893.1_Frame_Shift_Del_p.K1313fs	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1379	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				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						CCTCATGTCCAAACTGAGGGA	0.602									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													35	38	37					9																	90322121		1914	4116	6030	SO:0001589	frameshift_variant	0	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.4135delA	9.37:g.90322121delA	ENSP00000386135:p.Lys1379fs		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.K1404fs	ENST00000408954.3	37	c.4210	CCDS43842.1	9																																																																																			DAPK1	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000196730		0.602	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1		0	43	0	A	NM_004938		90322121	1	tier1		no_errors	ENST00000469640	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	1.000	-	-	90322121	A	-	90322121	7	5	139	1	0	1	0	1	0	0	0	0	4244	131	5	0	4233	0	DAPK1	9	90322121	Frame_Shift_Del	DEL	A	TCGA-R6-A6DN-01B-11D-A31U-09	2751832	90322121	50891310	88	35530											
EHMT1	79813	genome.wustl.edu	37	chr9	140707604	140707604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccccgacaggcccagccCcgtggagaggatagtgagca	9	3	15	14	2	0	2	0	1	0	1	0	5	0	3	5	4	2	1	5	4	1	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr9:140707604C>T	ENST00000460843.1	+	20	3041	c.3014C>T	c.(3013-3015)cCc>cTc	p.P1005L		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1005					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGGCCCAGCCCCGTGGAGAGG	0.637																																																	0													29	34	32					9																	140707604		2203	4300	6503	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3014C>T	9.37:g.140707604C>T	ENSP00000417980:p.Pro1005Leu		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.P1005L	ENST00000460843.1	37	c.3014	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	C	4.804	0.149547	0.09185	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	D	0.88124	-2.34	4.69	2.46	0.29980	.	0.495006	0.22892	N	0.054377	T	0.66446	0.2790	N	0.04508	-0.205	0.21147	N	0.999774	B	0.02656	0.0	B	0.01281	0.0	T	0.51888	-0.8648	10	0.19590	T	0.45	.	4.3048	0.10942	0.2924:0.5056:0.0:0.2021	.	1005	Q9H9B1	EHMT1_HUMAN	L	974;1005	ENSP00000417980:P1005L	ENSP00000360453:P974L	P	+	2	0	EHMT1	139827425	0.106000	0.21978	0.008000	0.14137	0.287000	0.27160	1.850000	0.39328	1.070000	0.40811	0.655000	0.94253	CCC	EHMT1	-	NULL	ENSG00000181090		0.637	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2		0	47	0	C	NM_024757		140707604	1			no_errors	ENST00000460843	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.008	T	T	140707604	C	T	140707604	3	4	139	1	0	0	0	0	1	0	0	0	4997	623	22	3	3141	3	EHMT1	9	140707604	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	50385483	140707604	505827	89	35531											
GATA3	2625	genome.wustl.edu	37	chr10	8097786	8097786	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttttaacatcgacggtcaAggcaaccacgtcccgcccta	10	9	7	15	4	1	0	1	0	0	0	3	1	2	0	3	2	2	1	3	2	4	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:8097786A>C	ENST00000346208.3	+	2	623	c.168A>C	c.(166-168)caA>caC	p.Q56H	GATA3-AS1_ENST00000355358.1_lincRNA|RP11-379F12.4_ENST00000418270.1_lincRNA|GATA3_ENST00000379328.3_Missense_Mutation_p.Q56H|RP11-379F12.3_ENST00000458727.1_lincRNA			P23771	GATA3_HUMAN	GATA binding protein 3	56					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCGACGGTCAAGGCAACCACG	0.672			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																	Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													36	30	32					10																	8097786		2198	4295	6493	SO:0001583	missense	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.168A>C	10.37:g.8097786A>C	ENSP00000341619:p.Gln56His		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.Q56H	ENST00000346208.3	37	c.168	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035665	0.75617	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.97279	-4.32;-4.29	4.83	2.48	0.30137	.	0.127434	0.56097	D	0.000023	D	0.97670	0.9236	M	0.83953	2.67	0.53005	D	0.999965	D;D	0.89917	1.0;0.988	D;P	0.68192	0.956;0.854	D	0.96306	0.9225	9	.	.	.	-18.8346	5.7677	0.18235	0.7673:0.0:0.0827:0.15	.	56;56	P23771;P23771-2	GATA3_HUMAN;.	H	56	ENSP00000368632:Q56H;ENSP00000341619:Q56H	.	Q	+	3	2	GATA3	8137792	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	1.521000	0.35910	0.673000	0.31224	-0.444000	0.05651	CAA	GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.672	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	-	0	116	0	A	NM_001002295		8097786	1	tier1	-	no_errors	ENST00000379328	ensembl	human	known	74_37	missense	64.52	33	60	SNP	1.000	C	C	8097786	A	C	8097786	3	2	139	1	0	0	0	0	1	0	0	0	6280	69	3	4	170	4	GATA3	10	8097786	Missense_Mutation	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09		8097786	127436961	90	35532											
FRMD4A	55691	genome.wustl.edu	37	chr10	13838554	13838554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggaagtcatgttccaataCtcttcgatctagctgaagcc	11	11	9	10	1	3	1	1	1	2	0	5	3	4	2	2	1	3	2	2	1	5	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:13838554C>T	ENST00000357447.2	-	5	609	c.241G>A	c.(241-243)Gta>Ata	p.V81I	FRMD4A_ENST00000342409.2_Missense_Mutation_p.V97I|FRMD4A_ENST00000378503.1_Missense_Mutation_p.V81I|FRMD4A_ENST00000358621.4_Missense_Mutation_p.V66I	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	81	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						TGTTCCAATACTCTTCGATCT	0.403																																																	0													145	143	144					10																	13838554		2203	4300	6503	SO:0001583	missense	0			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.241G>A	10.37:g.13838554C>T	ENSP00000350032:p.Val81Ile		A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.V81I	ENST00000357447.2	37	c.241	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578170	0.86645	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	4.87	4.87	0.63330	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	L	0.41573	1.285	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.995;0.992;0.998	T	0.75513	-0.3291	10	0.21014	T	0.42	-14.5135	14.9407	0.70992	0.0:1.0:0.0:0.0	.	97;114;81	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	I	66;81;81;114;97	ENSP00000351438:V66I;ENSP00000350032:V81I;ENSP00000367764:V81I;ENSP00000264546:V114I;ENSP00000344237:V97I	ENSP00000264546:V114I	V	-	1	0	FRMD4A	13878560	1.000000	0.71417	0.930000	0.37139	0.877000	0.50540	6.725000	0.74752	2.244000	0.73946	0.462000	0.41574	GTA	FRMD4A	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000151474		0.403	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	-	0	54	0	C	NM_018027		13838554	-1	tier1	-	no_errors	ENST00000357447	ensembl	human	known	74_37	missense	14.29	29	5	SNP	1.000	T	T	13838554	C	T	13838554	3	4	139	1	0	0	0	0	1	0	0	0	6075	565	20	3	2958	3	FRMD4A	10	13838554	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	5740768	13838554	121696193	91	35533											
VIM	7431	genome.wustl.edu	37	chr10	17275912	17275912	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaacctgcaggaggcagaAgaatggtacaaatccaaggt	17	5	12	7	0	0	3	0	0	0	3	1	4	1	4	2	4	3	3	2	4	7	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:17275912A>C	ENST00000224237.5	+	4	1009	c.864A>C	c.(862-864)gaA>gaC	p.E288D	VIM_ENST00000544301.1_Missense_Mutation_p.E288D|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	288	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGAGGCAGAAGAATGGTACA	0.468																																																	0													45	41	42					10																	17275912		2203	4300	6503	SO:0001583	missense	0			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.864A>C	10.37:g.17275912A>C	ENSP00000224237:p.Glu288Asp		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.E288D	ENST00000224237.5	37	c.864	CCDS7120.1	10	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293115	0.60086	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.93426	-3.22;-3.22;-3.22	6.14	-2.08	0.07254	Filament (1);	0.000000	0.47455	D	0.000238	D	0.94608	0.8262	M	0.85945	2.785	0.80722	D	1	P;B;B;B;P	0.46784	0.884;0.158;0.329;0.329;0.606	P;B;B;B;P	0.50825	0.651;0.278;0.327;0.232;0.533	D	0.93934	0.7217	10	0.72032	D	0.01	.	14.8396	0.70214	0.4767:0.0:0.5233:0.0	.	288;275;275;288;288	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	D	288;288;275;114	ENSP00000446007:E288D;ENSP00000224237:E288D;ENSP00000391842:E114D	ENSP00000224237:E288D	E	+	3	2	VIM	17315918	0.997000	0.39634	0.986000	0.45419	0.997000	0.91878	0.494000	0.22467	-0.292000	0.08999	0.519000	0.50382	GAA	VIM	-	pfam_IF,superfamily_Prefoldin	ENSG00000026025		0.468	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIM	HGNC	protein_coding	OTTHUMT00000047015.1	-	0	64	0	A	NM_003380		17275912	1	tier1	-	no_errors	ENST00000224237	ensembl	human	known	74_37	missense	59.26	11	16	SNP	0.970	C	C	17275912	A	C	17275912	3	2	139	1	0	0	0	0	1	0	0	0	17215	69	3	4	878	4	VIM	10	17275912	Missense_Mutation	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09	3437358	17275912	118258835	92	35534											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24884972	24884972	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcaactattaatggaatatActgcaaaacaagaaataaac	21	9	5	6	0	1	1	1	0	0	1	1	2	1	2	0	1	5	1	0	1	12	5			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:24884972A>G	ENST00000396432.2	-	18	3964	c.3478T>C	c.(3478-3480)Tat>Cat	p.Y1160H	ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Splice_Site_p.Y947H	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1159	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						AATGGAATATACTGCAAAACA	0.308																																																	0													28	28	28					10																	24884972		2198	4285	6483	SO:0001630	splice_region_variant	0			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.3478-1T>C	10.37:g.24884972A>G			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.Y1160H	ENST00000396432.2	37	c.3478	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712131	0.48517	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000418325	T;T;T	0.21734	2.8;2.8;1.99	5.27	5.27	0.74061	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.059686	0.64402	D	0.000001	T	0.26919	0.0659	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	T	0.08764	-1.0706	10	0.27082	T	0.32	.	15.4899	0.75597	1.0:0.0:0.0:0.0	.	1159	Q5T5U3	RHG21_HUMAN	H	1160;609;947;1	ENSP00000379709:Y1160H;ENSP00000365604:Y947H;ENSP00000402761:Y1H	ENSP00000365604:Y947H	Y	-	1	0	ARHGAP21	24924978	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.182000	0.77689	2.125000	0.65367	0.533000	0.62120	TAT	ARHGAP21	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000107863		0.308	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4		0	19	0	A	NM_020824	Missense_Mutation	24884972	-1			no_errors	ENST00000396432	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	G	G	24884972	A	G	24884972	5	3	139	1	0	0	0	0	0	0	1	0	871	405	14	4	2434	4	ARHGAP21	10	24884972	Splice_Site	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09	7609060	24884972	110649775	93	35535											
GDF2	2658	genome.wustl.edu	37	chr10	48416385	48416385	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cgcacaatgttggacgctggCgtagtcgacttatcggacgt	8	10	13	10	6	0	0	0	0	0	0	2	3	0	2	0	3	0	4	0	3	3	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:48416385C>T	ENST00000249598.1	-	1	468	c.309G>A	c.(307-309)acG>acA	p.T103T		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	103					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|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)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TGGACGCTGGCGTAGTCGACT	0.582																																																	0													109	85	93					10																	48416385		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.309G>A	10.37:g.48416385C>T			Q5VSQ9|Q9Y571	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.T103	ENST00000249598.1	37	c.309	CCDS7219.1	10																																																																																			GDF2	-	pfam_TGF-b_N	ENSG00000128802		0.582	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	HGNC	protein_coding	OTTHUMT00000047891.1	-	0	53	0	C	NM_016204		48416385	-1	tier1	-	no_errors	ENST00000249598	ensembl	human	known	74_37	silent	41.67	14	10	SNP	0.986	T	T	48416385	C	T	48416385	2	4	139	1	0	0	0	0	0	0	0	1	6340	755	27	1		1	GDF2	10	48416385	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	23531413	48416385	87118362	94	35536											
CPXM2	119587	genome.wustl.edu	37	chr10	125506371	125506371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaacttctccatgatctctCggatcctggccatgttggtt	7	14	8	12	1	2	1	0	1	2	0	6	2	3	2	3	3	1	2	3	3	1	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:125506371C>T	ENST00000241305.3	-	14	2334	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	727					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R727Q(1)		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)		CATGATCTCTCGGATCCTGGC	0.572																																																	1	Substitution - Missense(1)	autonomic_ganglia(1)											110	103	105					10																	125506371		2203	4300	6503	SO:0001583	missense	0			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.2180G>A	10.37:g.125506371C>T	ENSP00000241305:p.Arg727Gln		B4E3Q2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.R727Q	ENST00000241305.3	37	c.2180	CCDS7637.1	10	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828891	0.50845	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.14144	2.53	5.24	3.26	0.37387	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.109197	0.56097	D	0.000026	T	0.08758	0.0217	L	0.42245	1.32	0.47308	D	0.99938	B	0.34313	0.448	B	0.22880	0.042	T	0.16600	-1.0397	10	0.48119	T	0.1	-1.5386	4.4665	0.11691	0.0:0.5931:0.0:0.4069	.	727	Q8N436	CPXM2_HUMAN	Q	727;560;702	ENSP00000241305:R727Q	ENSP00000241305:R727Q	R	-	2	0	CPXM2	125496361	0.998000	0.40836	0.223000	0.23860	0.980000	0.70556	2.865000	0.48412	1.449000	0.47699	-0.136000	0.14681	CGA	CPXM2	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000121898		0.572	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1		0	43	0	C	NM_198148		125506371	-1			no_errors	ENST00000241305	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.640	T	T	125506371	C	T	125506371	3	4	139	1	0	0	0	0	1	0	0	0	3845	884	31	1	94	1	CPXM2	10	125506371	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	77089986	125506371	10028376	95	35537											
ST5	6764	genome.wustl.edu	37	chr11	8752018	8752018	+	Silent	SNP	G	G	A	0	0	1	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	gctgagctctccttcctgctGccatgccccctgaggaaggc	5	9	11	16	0	1	2	0	2	1	0	3	3	2	3	5	2	4	3	5	2	1	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:8752018G>A	ENST00000534127.1	-	6	1204	c.819C>T	c.(817-819)ggC>ggT	p.G273G	ST5_ENST00000357665.1_Silent_p.G273G|ST5_ENST00000313726.6_Silent_p.G273G|ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	273					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCTTCCTGCTGCCATGCCCCC	0.662																																																	0													45	56	52					11																	8752018		2194	4279	6473	SO:0001819	synonymous_variant	0			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.819C>T	11.37:g.8752018G>A			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G273	ENST00000534127.1	37	c.819	CCDS7791.1	11																																																																																			ST5	-	NULL	ENSG00000166444		0.662	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	-	0	31	0	G	NM_005418		8752018	-1	tier1	-	no_errors	ENST00000313726	ensembl	human	known	74_37	silent	81.25	6	26	SNP	1.000	A	A	8752018	G	A	8752018	2	1	139	1	0	0	0	0	0	0	0	1	15267	1306	46	3		3	ST5	11	8752018	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09		8752018	126254498	96	35538											
MICAL2	9645	genome.wustl.edu	37	chr11	12280031	12280031	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	acaggcaaattttactgcaaGcctcacttcattcactgtaa	13	12	5	11	0	3	0	3	0	0	0	3	0	3	0	1	1	3	3	1	1	4	5			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:12280031G>T	ENST00000256194.4	+	25	3447	c.3159G>T	c.(3157-3159)aaG>aaT	p.K1053N	MICAL2_ENST00000527546.1_Missense_Mutation_p.K863N|RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000342902.5_Missense_Mutation_p.K1032N|MICAL2_ENST00000537344.1_Missense_Mutation_p.K863N|MICAL2_ENST00000379612.3_Missense_Mutation_p.K827N	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1053	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)		TTTACTGCAAGCCTCACTTCA	0.413																																																	0													98	99	99					11																	12280031		2201	4294	6495	SO:0001583	missense	0			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.3159G>T	11.37:g.12280031G>T	ENSP00000256194:p.Lys1053Asn		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.K1053N	ENST00000256194.4	37	c.3159	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192173	0.58017	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.69	2.36	0.29203	Zinc finger, LIM-type (4);	0.061001	0.64402	D	0.000005	D	0.91036	0.7180	M	0.69463	2.115	0.29604	N	0.84744	D;D;D;B;D;D	0.76494	0.975;0.999;0.993;0.425;0.993;0.997	P;D;P;P;D;D	0.66351	0.776;0.943;0.883;0.47;0.911;0.933	D	0.84786	0.0776	10	0.38643	T	0.18	.	7.1546	0.25630	0.4722:0.0:0.5278:0.0	.	396;1032;863;806;827;1053	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	N	863;396;1053;863;1032;827	ENSP00000441689:K863N;ENSP00000256194:K1053N;ENSP00000433965:K863N;ENSP00000344894:K1032N;ENSP00000368932:K827N	ENSP00000256194:K1053N	K	+	3	2	MICAL2	12236607	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.421000	0.44688	0.711000	0.32018	0.655000	0.94253	AAG	MICAL2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000133816		0.413	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1		0	60	0	G	NM_014632		12280031	1			no_errors	ENST00000256194	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.973	T	T	12280031	G	T	12280031	3	4	139	1	0	0	0	0	1	0	0	0	9608	962	34	3	3249	3	MICAL2	11	12280031	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	3528013	12280031	122726485	97	35539											
IMMP1L	196294	genome.wustl.edu	37	chr11	31454095	31454095	+	Frame_Shift_Del	DEL	A	A	-																															gggctggcacgtaaaaatccAaaatcactcagaggccaaat																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:31454095delA	ENST00000278200.1	-	7	648	c.453delT	c.(451-453)tttfs	p.F151fs	AC108456.1_ENST00000408411.1_RNA|IMMP1L_ENST00000533642.1_Frame_Shift_Del_p.F42fs|IMMP1L_ENST00000526776.1_Frame_Shift_Del_p.F79fs|IMMP1L_ENST00000532287.1_Frame_Shift_Del_p.F151fs|IMMP1L_ENST00000534812.1_Frame_Shift_Del_p.F42fs	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	151					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)					GTAAAAATCCAAAATCACTCA	0.333																																																	0													69	65	67					11																	31454095		2202	4298	6500	SO:0001589	frameshift_variant	0				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.453delT	11.37:g.31454095delA	ENSP00000278200:p.Phe151fs		D3DQZ7|Q96SH9	Frame_Shift_Del	DEL	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.F151fs	ENST00000278200.1	37	c.453	CCDS7874.1	11																																																																																			IMMP1L	-	superfamily_Peptidase_S24_S26A/B/C	ENSG00000148950		0.333	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP1L	HGNC	protein_coding	OTTHUMT00000388496.1		0	46	0	A	NM_144981		31454095	-1	tier1		no_errors	ENST00000278200	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	1.000	-	-	31454095	A	-	31454095	7	5	139	1	0	1	0	1	0	0	0	0	7743	127	5	0	51	0	IMMP1L	11	31454095	Frame_Shift_Del	DEL	A	TCGA-R6-A6DN-01B-11D-A31U-09	19174064	31454095	103552421	98	35540											
ACCS	84680	genome.wustl.edu	37	chr11	44095006	44095006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtccccagctgagtcagCgcgacatgcagagggtggag	8	7	15	11	2	2	2	1	1	1	1	3	4	3	3	2	2	3	2	2	2	0	0			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:44095006C>T	ENST00000263776.8	+	4	792	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	ACCS_ENST00000533208.1_3'UTR|CTD-2609K8.3_ENST00000531268.1_RNA|ACCS_ENST00000432284.2_Intron	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	120					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GCTGAGTCAGCGCGACATGCA	0.587																																					Esophageal Squamous(158;148 1889 8077 23160 41213)												0													90	64	73					11																	44095006		2203	4300	6503	SO:0001583	missense	0			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.358C>T	11.37:g.44095006C>T	ENSP00000263776:p.Arg120Cys		B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.R120C	ENST00000263776.8	37	c.358	CCDS7907.1	11	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336131	0.41398	.	.	ENSG00000110455	ENST00000524990;ENST00000263776	T;T	0.31247	1.5;1.93	5.51	3.11	0.35812	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.409242	0.29046	N	0.013313	T	0.14313	0.0346	N	0.05078	-0.115	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.003;0.005	T	0.07481	-1.0770	10	0.45353	T	0.12	0.2785	7.3923	0.26917	0.6342:0.2935:0.0723:0.0	.	47;120	B4DYM9;Q96QU6	.;1A1L1_HUMAN	C	120	ENSP00000434156:R120C;ENSP00000263776:R120C	ENSP00000263776:R120C	R	+	1	0	ACCS	44051582	0.961000	0.32948	0.539000	0.28077	0.057000	0.15508	1.186000	0.32078	0.042000	0.15717	-1.339000	0.01253	CGC	ACCS	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000110455		0.587	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCS	HGNC	protein_coding	OTTHUMT00000389721.1		0	36	0	C	NM_032592		44095006	1			no_errors	ENST00000263776	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.633	T	T	44095006	C	T	44095006	3	4	139	1	0	0	0	0	1	0	0	0	133	768	27	1	368	1	ACCS	11	44095006	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	12640911	44095006	90911510	99	35541											
KDM2A	22992	genome.wustl.edu	37	chr11	66999244	66999244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcttctgactgtagccGgggctcccacaatggacaag	9	9	10	13	1	3	1	1	1	2	0	4	2	4	2	2	3	1	2	2	3	3	2	rs200011930		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:66999244G>A	ENST00000529006.2	+	12	1738	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q	KDM2A_ENST00000398645.2_Missense_Mutation_p.R431Q|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	431					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						GACTGTAGCCGGGGCTCCCAC	0.527																																																	0								G	GLN/ARG	1,3835		0,1,1917	70	72	71		1292	5.5	0.9	11		71	2,8212		0,2,4105	yes	missense	KDM2A	NM_012308.2	43	0,3,6022	AA,AG,GG		0.0243,0.0261,0.0249	probably-damaging	431/1163	66999244	3,12047	1918	4107	6025	SO:0001583	missense	0			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.1292G>A	11.37:g.66999244G>A	ENSP00000432786:p.Arg431Gln		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R431Q	ENST00000529006.2	37	c.1292	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311881	0.60414	2.61E-4	2.43E-4	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.29142	1.58;1.58	5.53	5.53	0.82687	.	0.000000	0.49916	D	0.000129	T	0.18841	0.0452	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	B	0.44108	0.441	T	0.06023	-1.0850	10	0.14252	T	0.57	-14.782	16.9919	0.86356	0.0:0.0:1.0:0.0	.	431	Q9Y2K7	KDM2A_HUMAN	Q	431	ENSP00000381640:R431Q;ENSP00000432786:R431Q	ENSP00000381640:R431Q	R	+	2	0	KDM2A	66755820	1.000000	0.71417	0.900000	0.35374	0.972000	0.66771	4.249000	0.58766	2.770000	0.95276	0.655000	0.94253	CGG	KDM2A	-	NULL	ENSG00000173120		0.527	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	-	0	38	0	G	NM_012308		66999244	1	tier1	rs200011930	no_errors	ENST00000529006	ensembl	human	known	74_37	missense	89.66	3	26	SNP	0.999	A	A	66999244	G	A	66999244	3	1	139	1	0	0	0	0	1	0	0	0	8151	1116	39	1	1334	1	KDM2A	11	66999244	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	22904238	66999244	68007272	100	35542											
ANKRD13D	338692	genome.wustl.edu	37	chr11	67059125	67059125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaccgcgtgtggaagcGgggtgagagcctgcgagtag	7	8	19	7	4	0	1	0	1	0	1	0	4	0	2	2	3	4	2	2	3	3	2	rs370874560		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:67059125G>A	ENST00000447274.2	+	5	1363	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R150Q|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R63Q|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R63Q			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	63						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)			GTGTGGAAGCGGGGTGAGAGC	0.632																																																	0								G	GLN/ARG	0,4400		0,0,2200	75	77	76		449	3	1	11		76	1,8589	1.2+/-3.3	0,1,4294	no	missense	ANKRD13D	NM_207354.2	43	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	150/606	67059125	1,12989	2200	4295	6495	SO:0001583	missense	0			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.188G>A	11.37:g.67059125G>A	ENSP00000402616:p.Arg63Gln		D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.R150Q	ENST00000447274.2	37	c.449		11	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717410	0.68844	0.0	1.16E-4	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.33438	1.41;1.61;1.41;1.41	3.95	3.03	0.35002	.	0.237616	0.33834	N	0.004513	T	0.18841	0.0452	N	0.12637	0.245	0.45554	D	0.998508	D;P	0.53312	0.959;0.454	P;B	0.45071	0.468;0.048	T	0.02404	-1.1164	10	0.30078	T	0.28	-19.6632	10.9754	0.47463	0.0945:0.0:0.9055:0.0	.	150;63	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	Q	63;150;63;63	ENSP00000402616:R63Q;ENSP00000427130:R150Q;ENSP00000310874:R63Q;ENSP00000444404:R63Q	ENSP00000310874:R63Q	R	+	2	0	ANKRD13D	66815701	1.000000	0.71417	0.998000	0.56505	0.808000	0.45660	9.629000	0.98417	1.027000	0.39758	-0.291000	0.09656	CGG	ANKRD13D	-	NULL	ENSG00000172932		0.632	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2	-	0	43	0	G	NM_207354		67059125	1	tier1	-	no_errors	ENST00000511455	ensembl	human	known	74_37	missense	89.29	6	50	SNP	1.000	A	A	67059125	G	A	67059125	3	1	139	1	0	0	0	0	1	0	0	0	644	1116	39	1	467	1	ANKRD13D	11	67059125	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	59881	67059125	67947391	101	35543											
MTMR2	8898	genome.wustl.edu	37	chr11	95582865	95582865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaacagcattaacacttggCcgggcatcaaatataaagat	16	8	8	9	1	1	1	1	0	0	1	1	1	1	1	1	2	3	3	1	2	6	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:95582865C>T	ENST00000346299.5	-	9	1306	c.966G>A	c.(964-966)cgG>cgA	p.R322R	MTMR2_ENST00000409459.1_Silent_p.R250R|MTMR2_ENST00000352297.7_Silent_p.R250R|MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000393223.3_Silent_p.R250R	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	322	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R322R(1)|p.R250R(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAACACTTGGCCGGGCATCAA	0.408																																																	2	Substitution - coding silent(2)	large_intestine(2)											167	167	167					11																	95582865		2201	4298	6499	SO:0001819	synonymous_variant	0			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.966G>A	11.37:g.95582865C>T			A6NN98|Q9UPS9	Silent	SNP	pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.R322	ENST00000346299.5	37	c.966	CCDS8305.1	11																																																																																			MTMR2	-	pfam_Myotubularin-like_Pase_dom	ENSG00000087053		0.408	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR2	HGNC	protein_coding	OTTHUMT00000332620.1		0	69	0	C	NM_016156		95582865	-1			no_errors	ENST00000346299	ensembl	human	known	74_37	silent	7.50	37	3	SNP	1.000	T	T	95582865	C	T	95582865	2	4	139	1	0	0	0	0	0	0	0	1	9982	726	26	3		3	MTMR2	11	95582865	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	28523740	95582865	39423651	102	35544											
CNTN5	53942	genome.wustl.edu	37	chr11	100061915	100061915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgcttccaaatcagacgaGggaaagtacgtttgccgagg	13	8	12	8	3	1	1	1	0	0	1	2	4	2	2	2	2	3	3	2	2	4	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:100061915G>T	ENST00000524871.1	+	14	1928	c.1638G>T	c.(1636-1638)gaG>gaT	p.E546D	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.E546D|CNTN5_ENST00000527185.1_Missense_Mutation_p.E546D|CNTN5_ENST00000418526.2_Missense_Mutation_p.E472D|CNTN5_ENST00000528682.1_Missense_Mutation_p.E546D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	546	Ig-like C2-type 5.				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)		AATCAGACGAGGGAAAGTACG	0.383																																																	0													68	70	69					11																	100061915		1829	4078	5907	SO:0001583	missense	0			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.1638G>T	11.37:g.100061915G>T	ENSP00000435637:p.Glu546Asp		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E546D	ENST00000524871.1	37	c.1638	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925618	0.52759	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.52	2.64	0.31445	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	L	0.51853	1.615	0.51767	D	0.999932	D;D;D	0.59357	0.985;0.966;0.973	P;P;P	0.52031	0.688;0.561;0.688	T	0.63752	-0.6566	10	0.59425	D	0.04	.	7.5193	0.27618	0.4236:0.0:0.5764:0.0	.	546;472;546	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	D	546;546;546;472;546	ENSP00000433575:E546D;ENSP00000436185:E546D;ENSP00000435637:E546D;ENSP00000393229:E472D;ENSP00000279463:E546D	ENSP00000279463:E546D	E	+	3	2	CNTN5	99567125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.728000	0.38105	0.389000	0.25086	0.650000	0.86243	GAG	CNTN5	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149972		0.383	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2		0	132	0	G	NM_014361		100061915	1			no_errors	ENST00000279463	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	100061915	G	T	100061915	3	4	139	1	0	0	0	0	1	0	0	0	3651	991	35	3	1684	3	CNTN5	11	100061915	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	4479050	100061915	34944601	103	35545											
TRPC6	7225	genome.wustl.edu	37	chr11	101454162	101454162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtcctggctctcgttgcGccgcgcagcggctccggcag	4	8	14	15	6	1	0	0	0	1	0	4	0	3	0	3	3	2	5	3	3	1	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:101454162G>A	ENST00000344327.3	-	1	497	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	TRPC6_ENST00000360497.4_Missense_Mutation_p.R25C|RP11-748H22.1_ENST00000527374.1_RNA|TRPC6_ENST00000532133.1_Missense_Mutation_p.R25C|TRPC6_ENST00000526713.1_Intron|TRPC6_ENST00000348423.4_Missense_Mutation_p.R25C	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	25					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)		CTCTCGTTGCGCCGCGCAGCG	0.716																																					Colon(166;1315 1927 11094 12848 34731)												0													12	12	12					11																	101454162		2168	4235	6403	SO:0001583	missense	0			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.73C>T	11.37:g.101454162G>A	ENSP00000340913:p.Arg25Cys		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.R25C	ENST00000344327.3	37	c.73	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468144	0.63625	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;D;D;D	0.83163	-1.43;-1.57;-1.5;-1.69	5.02	4.07	0.47477	.	0.605876	0.14233	N	0.332602	D	0.84110	0.5400	N	0.22421	0.69	0.47214	D	0.999354	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.988;0.973	D	0.83981	0.0332	10	0.87932	D	0	-9.3366	10.8962	0.47023	0.0:0.0:0.8139:0.1861	.	25;25;25	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	C	25	ENSP00000340913:R25C;ENSP00000435574:R25C;ENSP00000343672:R25C;ENSP00000353687:R25C	ENSP00000340913:R25C	R	-	1	0	TRPC6	100959372	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.476000	0.35420	2.319000	0.78375	0.561000	0.74099	CGC	TRPC6	-	NULL	ENSG00000137672		0.716	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	-	0	29	0	G	NM_004621		101454162	-1	tier1	-	no_errors	ENST00000344327	ensembl	human	known	74_37	missense	50.00	10	10	SNP	1.000	A	A	101454162	G	A	101454162	3	1	139	1	0	0	0	0	1	0	0	0	16631	1087	38	1	2774	1	TRPC6	11	101454162	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	1392247	101454162	33552354	104	35546											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103047022	103047022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataccatgtcaaagtttacGtttactgattgcacccggtt	11	14	7	9	2	1	1	1	1	0	0	1	1	1	1	2	1	4	4	2	1	5	7			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:103047022G>A	ENST00000375735.2	+	37	5877	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T	DYNC2H1_ENST00000398093.3_Silent_p.T1911T|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	1911					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)		CAAAGTTTACGTTTACTGATT	0.323																																																	0													84	77	79					11																	103047022		1820	4079	5899	SO:0001819	synonymous_variant	0			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.5733G>A	11.37:g.103047022G>A			O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T1911	ENST00000375735.2	37	c.5733	CCDS53701.1	11																																																																																			DYNC2H1	-	superfamily_P-loop_NTPase	ENSG00000187240		0.323	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	83	0	G	XM_370652		103047022	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	silent	65.79	13	25	SNP	0.991	A	A	103047022	G	A	103047022	2	1	139	1	0	0	0	0	0	0	0	1	4860	1132	40	1		1	DYNC2H1	11	103047022	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	1592860	103047022	31959494	105	35547											
CD27	939	genome.wustl.edu	37	chr12	6554291	6554291	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacatccctggtggctgtgCgttctggggaccctggtggg	3	10	16	12	1	1	0	0	0	1	0	2	1	2	1	3	6	1	2	3	6	0	1	rs34540052	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:6554291C>T	ENST00000266557.3	+	1	259	c.30C>T	c.(28-30)tgC>tgT	p.C10C	CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	10					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						GGTGGCTGTGCGTTCTGGGGA	0.637													C|||	60	0.0119808	0.0446	0.0014	5008	,	,		15908	0		0	False		,,,				2504	0																0								C		109,4295		0,109,2093	18	24	22		30	2.1	0.3	12	dbSNP_126	22	0,8600		0,0,4300	no	coding-synonymous	CD27	NM_001242.4		0,109,6393	TT,TC,CC		0.0,2.475,0.8382		10/261	6554291	109,12895	2202	4300	6502	SO:0001819	synonymous_variant	0			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"Tumor necrosis factor receptor superfamily", "CD molecules"	11922	protein-coding gene	gene with protein product		186711	"tumor necrosis factor receptor superfamily, member 7"	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.30C>T	12.37:g.6554291C>T			B2RDZ0	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt	p.C10	ENST00000266557.3	37	c.30	CCDS8545.1	12																																																																																			CD27	-	prints_TNFR_7	ENSG00000139193		0.637	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD27	HGNC	protein_coding	OTTHUMT00000399258.1		0	52	0	C			6554291	1			no_errors	ENST00000266557	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.512	T	T	6554291	C	T	6554291	2	4	139	1	0	0	0	0	0	0	0	1	2997	776	27	1		1	CD27	12	6554291	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09		6554291	127297604	106	35548											
C12orf40	283461	genome.wustl.edu	37	chr12	40044041	40044041	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcaaattttttttttcagCgcagtactgttaactgttct	8	20	5	8	1	3	0	2	0	1	0	3	0	3	0	0	0	3	4	0	0	3	9	rs568770394		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:40044041C>T	ENST00000324616.5	+	7	725	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	C12orf40_ENST00000398716.1_Splice_Site_p.R114C|C12orf40_ENST00000405531.3_Splice_Site_p.R191C	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	191								p.R191C(1)		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						TTTTTTTCAGCGCAGTACTGT	0.269													C|||	1	0.000199681	0	0	5008	,	,		12472	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	endometrium(1)											74	64	67					12																	40044041		1784	4060	5844	SO:0001630	splice_region_variant	0			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.571-1C>T	12.37:g.40044041C>T			B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.R191C	ENST00000324616.5	37	c.571	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	C	5.619	0.298950	0.10622	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.45276	0.9;0.91	3.53	2.61	0.31194	.	0.479030	0.15666	N	0.250646	T	0.18800	0.0451	N	0.08118	0	0.26580	N	0.973408	B	0.24368	0.102	B	0.06405	0.002	T	0.15694	-1.0428	9	.	.	.	.	7.3809	0.26856	0.0:0.876:0.0:0.124	.	191	Q86WS4	CL040_HUMAN	C	191;114;191	ENSP00000383897:R191C;ENSP00000317671:R191C	.	R	+	1	0	C12orf40	38330308	0.027000	0.19231	0.785000	0.31869	0.303000	0.27691	-0.145000	0.10265	1.031000	0.39867	0.650000	0.86243	CGC	C12orf40	-	NULL	ENSG00000180116		0.269	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	-	0	61	0	C	NM_173599	Missense_Mutation	40044041	1	tier1	-	no_errors	ENST00000324616	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.804	T	T	40044041	C	T	40044041	5	4	139	1	0	0	0	0	0	0	1	0	1691	782	27	1	597	1	C12orf40	12	40044041	Splice_Site	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	33489750	40044041	93807854	107	35549											
CNTN1	1272	genome.wustl.edu	37	chr12	41353009	41353009	+	Missense_Mutation	SNP	T	T	C	0	1	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	agacaattgtggacaattctTcagcttcagctgaccttgta	11	13	8	9	0	3	2	2	1	1	1	3	3	3	3	1	1	2	3	1	1	3	6			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:41353009T>C	ENST00000551295.2	+	15	1894	c.1777T>C	c.(1777-1779)Tca>Cca	p.S593P	CNTN1_ENST00000360099.3_Missense_Mutation_p.S593P|CNTN1_ENST00000347616.1_Missense_Mutation_p.S593P|CNTN1_ENST00000348761.2_Missense_Mutation_p.S582P|CNTN1_ENST00000547849.1_Missense_Mutation_p.S593P|CNTN1_ENST00000547702.1_Missense_Mutation_p.S593P	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	593	Ig-like C2-type 6.				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)				GGACAATTCTTCAGCTTCAGC	0.388																																																	0													105	97	100					12																	41353009		2203	4300	6503	SO:0001583	missense	0			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.1777T>C	12.37:g.41353009T>C	ENSP00000447006:p.Ser593Pro		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S593P	ENST00000551295.2	37	c.1777	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	T	19.97	3.924895	0.73213	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.3	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.147964	0.47455	D	0.000228	T	0.63271	0.2497	H	0.94925	3.6	0.43226	D	0.995116	D;D;D	0.63046	0.967;0.991;0.992	P;P;D	0.66497	0.747;0.907;0.944	T	0.73056	-0.4103	10	0.72032	D	0.01	.	11.6997	0.51564	0.1325:0.0:0.0:0.8675	.	593;582;593	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	P	593;593;593;593;593;582	ENSP00000448004:S593P;ENSP00000447006:S593P;ENSP00000448653:S593P;ENSP00000325660:S593P;ENSP00000353213:S593P;ENSP00000261160:S582P	ENSP00000325660:S593P	S	+	1	0	CNTN1	39639276	0.984000	0.35163	0.987000	0.45799	0.998000	0.95712	3.039000	0.49791	2.308000	0.77769	0.533000	0.62120	TCA	CNTN1	-	pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000018236		0.388	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0	56	0	T	NM_001843		41353009	1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.972	C	C	41353009	T	C	41353009	3	2	139	1	0	0	0	0	1	0	0	0	3647	1783	62	4	1831	4	CNTN1	12	41353009	Missense_Mutation	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09	1308968	41353009	92498886	108	35550											
GLIPR1L2	144321	genome.wustl.edu	37	chr12	75804237	75804237	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggatgtagctttatcacgGactgctagagcatggggaaa	11	10	14	6	1	1	1	1	0	0	1	1	4	1	4	0	4	3	4	0	4	4	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:75804237G>T	ENST00000550916.1	+	2	305	c.258G>T	c.(256-258)cgG>cgT	p.R86R	GLIPR1L2_ENST00000435775.1_Silent_p.R86R|GLIPR1L2_ENST00000547164.1_Silent_p.R86R|GLIPR1L2_ENST00000441218.1_Silent_p.R21R|GLIPR1L2_ENST00000320460.4_Silent_p.R86R|GLIPR1L2_ENST00000378692.3_5'UTR	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	86	SCP.					integral component of membrane (GO:0016021)		p.R86R(2)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTTATCACGGACTGCTAGAG	0.284																																																	2	Substitution - coding silent(2)	lung(2)											81	81	81					12																	75804237		2199	4297	6496	SO:0001819	synonymous_variant	0			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.258G>T	12.37:g.75804237G>T			Q6MZS1|Q8N6N0|Q8NA43	Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.R86	ENST00000550916.1	37	c.258	CCDS58258.1	12																																																																																			GLIPR1L2	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000180481		0.284	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1L2	HGNC	protein_coding	OTTHUMT00000405718.1		0	34	0	G	NM_152436		75804237	1			no_errors	ENST00000550916	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.989	T	T	75804237	G	T	75804237	2	4	139	1	0	0	0	0	0	0	0	1	6469	1161	41	3		3	GLIPR1L2	12	75804237	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	34451228	75804237	58047658	109	35551											
ALX1	8092	genome.wustl.edu	37	chr12	85695015	85695015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacgtgacacttcctcctGtatgacaccttattctcact	9	13	4	15	1	1	2	1	2	1	0	4	2	3	2	4	0	0	1	4	0	2	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:85695015G>A	ENST00000316824.3	+	4	898	c.743G>A	c.(742-744)tGt>tAt	p.C248Y		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	248					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		ACTTCCTCCTGTATGACACCT	0.448																																																	0													151	139	143					12																	85695015		2203	4300	6503	SO:0001583	missense	0			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.743G>A	12.37:g.85695015G>A	ENSP00000315417:p.Cys248Tyr		Q546C8|Q96FH4	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.C248Y	ENST00000316824.3	37	c.743	CCDS9028.1	12	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505163	0.64410	.	.	ENSG00000180318	ENST00000316824	D	0.92699	-3.09	5.99	5.99	0.97316	.	0.133460	0.64402	D	0.000001	D	0.94538	0.8241	M	0.64170	1.965	0.80722	D	1	D	0.64830	0.994	P	0.59115	0.852	D	0.91859	0.5498	10	0.23302	T	0.38	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	248	Q15699	ALX1_HUMAN	Y	248	ENSP00000315417:C248Y	ENSP00000315417:C248Y	C	+	2	0	ALX1	84219146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.355000	0.97087	2.840000	0.97914	0.655000	0.94253	TGT	ALX1	-	NULL	ENSG00000180318		0.448	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX1	HGNC	protein_coding	OTTHUMT00000406072.1	-	0	87	0	G	NM_006982		85695015	1	tier1	-	no_errors	ENST00000316824	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	A	A	85695015	G	A	85695015	3	1	139	1	0	0	0	0	1	0	0	0	556	1377	48	3	757	3	ALX1	12	85695015	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	9890778	85695015	48156880	110	35552											
TXNRD1	7296	genome.wustl.edu	37	chr12	104709577	104709577	+	Missense_Mutation	SNP	T	T	A	0	1	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	ctcggaggaacatgtgtgaaTgtgggttgcatacctaaaaa	13	10	12	6	1	0	1	0	1	0	0	1	3	0	3	1	3	3	2	1	3	6	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:104709577T>A	ENST00000529546.1	+	4	294	c.69T>A	c.(67-69)aaT>aaA	p.N23K	TXNRD1_ENST00000427956.1_Missense_Mutation_p.N176K|TXNRD1_ENST00000526950.1_Missense_Mutation_p.N130K|TXNRD1_ENST00000524698.1_Missense_Mutation_p.N61K|TXNRD1_ENST00000378070.4_Missense_Mutation_p.N160K|TXNRD1_ENST00000542918.1_Missense_Mutation_p.N111K|TXNRD1_ENST00000540716.1_Missense_Mutation_p.N23K|TXNRD1_ENST00000354940.6_Missense_Mutation_p.N61K|TXNRD1_ENST00000503506.2_Missense_Mutation_p.N61K|TXNRD1_ENST00000429002.2_Missense_Mutation_p.N211K|TXNRD1_ENST00000526691.1_Missense_Mutation_p.N113K|TXNRD1_ENST00000397736.2_Missense_Mutation_p.N105K|TXNRD1_ENST00000526390.1_Missense_Mutation_p.N105K|TXNRD1_ENST00000388854.3_Missense_Mutation_p.N113K|TXNRD1_ENST00000525566.1_Missense_Mutation_p.N211K			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	211					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)	CATGTGTGAATGTGGGTTGCA	0.403																																					Ovarian(139;555 1836 9186 9946 10884)												0													114	109	111					12																	104709577		1897	4131	6028	SO:0001583	missense	0				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.69T>A	12.37:g.104709577T>A	ENSP00000434919:p.Asn23Lys		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.N211K	ENST00000529546.1	37	c.633	CCDS58274.1	12	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318519	0.81469	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526266;ENST00000503506;ENST00000526691;ENST00000531691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000531689;ENST00000529546;ENST00000540716;ENST00000526580;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000527335;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.81	2.01	0.26516	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.80929	0.4718	H	0.99800	4.79	0.54753	D	0.999988	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.82866	-0.0245	10	0.87932	D	0	-32.3749	10.0188	0.42031	0.0:0.1895:0.0:0.8105	.	111;105;211;113;61;211;176	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	K	211;211;61;61;113;105;113;61;105;61;23;23;61;61;111;160;61;105;176;130	ENSP00000434516:N211K;ENSP00000412045:N211K;ENSP00000431294:N61K;ENSP00000421934:N61K;ENSP00000435929:N113K;ENSP00000431925:N105K;ENSP00000373506:N113K;ENSP00000347020:N61K;ENSP00000435123:N105K;ENSP00000433507:N61K;ENSP00000434919:N23K;ENSP00000442709:N23K;ENSP00000433887:N61K;ENSP00000433425:N61K;ENSP00000440978:N111K;ENSP00000367310:N160K;ENSP00000433599:N61K;ENSP00000380844:N105K;ENSP00000393328:N176K;ENSP00000432812:N130K	ENSP00000347020:N61K	N	+	3	2	TXNRD1	103233707	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.766000	0.26560	0.096000	0.17463	0.529000	0.55759	AAT	TXNRD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000198431		0.403	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389969.1	-	0	69	0	T	NM_003330		104709577	1	tier1	-	no_errors	ENST00000429002	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	A	A	104709577	T	A	104709577	3	1	139	1	0	0	0	0	1	0	0	0	16856	1461	51	5	673	5	TXNRD1	12	104709577	Missense_Mutation	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09	19014562	104709577	29142318	111	35553											
IQCD	115811	genome.wustl.edu	37	chr12	113633598	113633598	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctcccgctcttcccggatctGcgcaaactctcccaccagca	7	8	6	20	3	3	0	0	0	3	0	6	1	5	1	4	1	3	3	4	1	1	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:113633598G>T	ENST00000416617.2	-	5	1322	c.1132C>A	c.(1132-1134)Cag>Aag	p.Q378K	IQCD_ENST00000299732.2_Missense_Mutation_p.Q276K			Q96DY2	IQCD_HUMAN	IQ motif containing D	378										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCCCGGATCTGCGCAAACTCT	0.602																																																	0													115	102	107					12																	113633598		2203	4300	6503	SO:0001583	missense	0			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 10"					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.1132C>A	12.37:g.113633598G>T	ENSP00000400669:p.Gln378Lys		Q6ZSU0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q378K	ENST00000416617.2	37	c.1132		12	.	.	.	.	.	.	.	.	.	.	G	0.665	-0.804266	0.02819	.	.	ENSG00000166578	ENST00000299732;ENST00000416617	T;T	0.49139	3.03;0.79	4.29	4.29	0.51040	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	B	0.33448	0.412	B	0.37091	0.241	T	0.42189	-0.9466	8	0.37606	T	0.19	-10.923	15.6583	0.77162	0.0:0.0:1.0:0.0	.	276	Q96DY2-2	.	K	276;378	ENSP00000299732:Q276K;ENSP00000400669:Q378K	ENSP00000299732:Q276K	Q	-	1	0	IQCD	112117981	1.000000	0.71417	0.924000	0.36721	0.031000	0.12232	4.839000	0.62810	2.224000	0.72417	0.561000	0.74099	CAG	IQCD	-	NULL	ENSG00000166578		0.602	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	IQCD	HGNC	protein_coding	OTTHUMT00000405327.1		0	26	0	G	NM_138451		113633598	-1			no_errors	ENST00000416617	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.986	T	T	113633598	G	T	113633598	3	4	139	1	0	0	0	0	1	0	0	0	7832	1328	46	3	221	3	IQCD	12	113633598	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	8924021	113633598	20218297	112	35554											
NOS1	4842	genome.wustl.edu	37	chr12	117728207	117728207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggctgccattctttgtggGggactgttttcctgaggtgg	3	14	17	7	0	1	1	0	1	1	0	2	2	2	2	2	6	1	2	2	6	0	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:117728207G>T	ENST00000338101.4	-	3	881	c.877C>A	c.(877-879)Ccc>Acc	p.P293T	NOS1_ENST00000344089.3_Silent_p.P311P|NOS1_ENST00000317775.6_Missense_Mutation_p.P293T			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTCTTTGTGGGGGACTGTTTT	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													48	50	49					12																	117728207		1981	4157	6138	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.877C>A	12.37:g.117728207G>T	ENSP00000337459:p.Pro293Thr			Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.P293T	ENST00000338101.4	37	c.877	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375663	0.61735	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.01474	4.93;4.85	5.13	5.13	0.70059	.	0.486738	0.22966	N	0.053488	T	0.06142	0.0159	L	0.59436	1.845	0.80722	D	1	P	0.52316	0.952	P	0.52957	0.714	T	0.44513	-0.9323	10	0.37606	T	0.19	-31.3084	18.7669	0.91876	0.0:0.0:1.0:0.0	.	293	P29475	NOS1_HUMAN	T	293	ENSP00000320758:P293T;ENSP00000337459:P293T	ENSP00000320758:P293T	P	-	1	0	NOS1	116212590	1.000000	0.71417	0.997000	0.53966	0.808000	0.45660	5.169000	0.64984	2.680000	0.91292	0.467000	0.42956	CCC	NOS1	-	pirsf_NOS_euk	ENSG00000089250		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	-	0	37	0	G			117728207	-1	tier1	-	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	117728207	G	T	117728207	3	4	139	1	0	0	0	0	1	0	0	0	10580	1232	43	3	3531	3	NOS1	12	117728207	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	4094609	117728207	16123688	113	35555											
CABP1	9478	genome.wustl.edu	37	chr12	121098879	121098879	+	Silent	SNP	C	C	T	0	0	0	1	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	tcctgccttctctagtttgaCaccaatggtgatggggaaat	9	13	10	9	0	1	2	0	2	1	0	3	3	2	3	3	3	1	1	3	3	3	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:121098879C>T	ENST00000316803.3	+	5	1079	c.945C>T	c.(943-945)gaC>gaT	p.D315D	CABP1_ENST00000453000.1_Silent_p.D251D|CABP1_ENST00000351200.2_Silent_p.D112D|CABP1_ENST00000288616.3_Silent_p.D172D	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	315	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTAGTTTGACACCAATGGTG	0.542																																																	0													82	76	78					12																	121098879		2203	4300	6503	SO:0001819	synonymous_variant	0			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.945C>T	12.37:g.121098879C>T			O95663|Q8N6H5|Q9NZU8	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D315	ENST00000316803.3	37	c.945	CCDS31913.1	12																																																																																			CABP1	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000157782		0.542	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	HGNC	protein_coding	OTTHUMT00000345822.1	-	0	45	0	C	NM_001033677		121098879	1	tier1	-	no_errors	ENST00000316803	ensembl	human	known	74_37	silent	73.33	8	22	SNP	1.000	T	T	121098879	C	T	121098879	2	4	139	1	0	0	0	0	0	0	0	1	2538	477	17	3		3	CABP1	12	121098879	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	3370672	121098879	12753016	114	35556											
HIP1R	9026	genome.wustl.edu	37	chr12	123340695	123340695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcggagccagggcctgCgtgaggaggctgagagtacg	8	4	20	9	4	0	2	0	2	0	1	0	6	0	4	2	4	4	2	2	4	1	1	rs532716787		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:123340695C>T	ENST00000253083.4	+	14	1422	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	433					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCAGGGCCTGCGTGAGGAGGC	0.687													C|||	1	0.000199681	8e-04	0	5008	,	,		15761	0		0	False		,,,				2504	0																0													27	30	29					12																	123340695		2193	4293	6486	SO:0001583	missense	0			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.1297C>T	12.37:g.123340695C>T	ENSP00000253083:p.Arg433Cys		A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom	p.R433C	ENST00000253083.4	37	c.1297	CCDS31922.1	12	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104074	0.37145	.	.	ENSG00000130787	ENST00000253083	T	0.15017	2.46	4.84	3.82	0.43975	.	0.530410	0.22357	N	0.061123	T	0.10208	0.0250	N	0.22421	0.69	0.40250	D	0.978061	B;B;B	0.15473	0.003;0.003;0.013	B;B;B	0.06405	0.002;0.002;0.002	T	0.11227	-1.0596	10	0.46703	T	0.11	-17.8133	5.7427	0.18102	0.0:0.7457:0.0:0.2543	.	433;433;421	O75146;Q6NXG8;B3KQW8	HIP1R_HUMAN;.;.	C	433	ENSP00000253083:R433C	ENSP00000253083:R433C	R	+	1	0	HIP1R	121906648	0.792000	0.28813	0.997000	0.53966	0.859000	0.49053	2.802000	0.47916	2.238000	0.73509	0.561000	0.74099	CGT	HIP1R	-	NULL	ENSG00000130787		0.687	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1R	HGNC	protein_coding	OTTHUMT00000400935.1		0	46	0	C	NM_003959		123340695	1			no_errors	ENST00000253083	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.977	T	T	123340695	C	T	123340695	3	4	139	1	0	0	0	0	1	0	0	0	7142	768	27	1	1351	1	HIP1R	12	123340695	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	2241816	123340695	10511200	115	35557											
MYH6	4624	genome.wustl.edu	37	chr14	23862683	23862683	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccttggtcagcttagcGatgatttcatccagcccagc	7	13	8	13	1	3	1	2	1	1	0	5	2	4	1	3	1	4	1	3	1	1	4	rs374807345		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr14:23862683G>T	ENST00000356287.3	-	22	3002	c.2973C>A	c.(2971-2973)atC>atA	p.I991I	MYH6_ENST00000405093.3_Silent_p.I991I			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	991					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)		TCAGCTTAGCGATGATTTCAT	0.522																																																	0													189	181	183					14																	23862683		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2973C>A	14.37:g.23862683G>T			A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I991	ENST00000356287.3	37	c.2973	CCDS9600.1	14																																																																																			MYH6	-	NULL	ENSG00000197616		0.522	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3		0	45	0	G			23862683	-1			no_errors	ENST00000356287	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.776	T	T	23862683	G	T	23862683	2	4	139	1	0	0	0	0	0	0	0	1	10076	1048	37	2		2	MYH6	14	23862683	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09		23862683	83486857	116	35558											
FITM1	161247	genome.wustl.edu	37	chr14	24601848	24601848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgctgctgggcctctGgaacttcttgctgctctgta	3	14	12	12	1	3	0	0	0	3	0	3	1	3	1	1	2	6	6	1	2	2	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr14:24601848G>T	ENST00000267426.5	+	2	984	c.695G>T	c.(694-696)tGg>tTg	p.W232L	FITM1_ENST00000559294.1_Missense_Mutation_p.W36L	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	232					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CTGGGCCTCTGGAACTTCTTG	0.607																																																	0													102	87	92					14																	24601848		2203	4300	6503	SO:0001583	missense	0				CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"fat-inducing transcript 1"	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.695G>T	14.37:g.24601848G>T	ENSP00000267426:p.Trp232Leu		Q8IUQ7	Missense_Mutation	SNP	pfam_FIT	p.W232L	ENST00000267426.5	37	c.695	CCDS9611.1	14	.	.	.	.	.	.	.	.	.	.	g	15.10	2.734302	0.48939	.	.	ENSG00000139914	ENST00000267426	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.87097	2.86	0.80722	D	1	P	0.45902	0.868	P	0.49502	0.613	T	0.77292	-0.2642	9	0.72032	D	0.01	-3.5328	9.6298	0.39772	0.0954:0.0:0.9046:0.0	.	232	A5D6W6	FITM1_HUMAN	L	232	.	ENSP00000267426:W232L	W	+	2	0	FITM1	23671688	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.545000	0.73883	2.367000	0.80283	0.462000	0.41574	TGG	FITM1	-	pfam_FIT	ENSG00000139914		0.607	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FITM1	HGNC	protein_coding	OTTHUMT00000257366.1		0	38	0	G	NM_203402		24601848	1			no_errors	ENST00000267426	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	24601848	G	T	24601848	3	4	139	1	0	0	0	0	1	0	0	0	5920	1357	47	3	701	3	FITM1	14	24601848	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	739165	24601848	82747692	117	35559											
SLC25A21	89874	genome.wustl.edu	37	chr14	37194798	37194798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaatgtgttccgatttgCttgcaagccaacttttacta	10	15	7	9	1	0	0	0	0	0	0	1	1	1	0	2	0	6	4	2	0	5	6			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr14:37194798C>T	ENST00000331299.5	-	6	930	c.415G>A	c.(415-417)Gca>Aca	p.A139T	SLC25A21_ENST00000555449.1_Missense_Mutation_p.A139T	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	139					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TTCCGATTTGCTTGCAAGCCA	0.308																																																	0													99	93	95					14																	37194798		2203	4300	6503	SO:0001583	missense	0			AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"Solute carriers"	14411	protein-coding gene	gene with protein product		607571	"solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.415G>A	14.37:g.37194798C>T	ENSP00000329452:p.Ala139Thr		A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.A139T	ENST00000331299.5	37	c.415	CCDS9663.1	14	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103908	0.56291	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.78595	-1.19;-1.19	5.32	5.32	0.75619	Mitochondrial carrier domain (2);	0.047319	0.85682	D	0.000000	T	0.73961	0.3654	L	0.33339	1.005	0.54753	D	0.999989	B	0.23540	0.087	B	0.37989	0.262	T	0.70655	-0.4812	10	0.39692	T	0.17	-3.6048	14.3097	0.66407	0.0:0.9263:0.0:0.0737	.	139	Q9BQT8	ODC_HUMAN	T	139	ENSP00000451873:A139T;ENSP00000329452:A139T	ENSP00000329452:A139T	A	-	1	0	SLC25A21	36264549	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.540000	0.45727	2.494000	0.84150	0.644000	0.83932	GCA	SLC25A21	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000183032		0.308	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A21	HGNC	protein_coding	OTTHUMT00000276732.2	-	0	94	0	C	NM_030631		37194798	-1	tier1	-	no_errors	ENST00000331299	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	37194798	C	T	37194798	3	4	139	1	0	0	0	0	1	0	0	0	14529	797	28	3	509	3	SLC25A21	14	37194798	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	12592950	37194798	70154742	118	35560											
ENTPD5	957	genome.wustl.edu	37	chr14	74433702	74433702	+	Missense_Mutation	SNP	T	T	C	0	1	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	ccagcccgtctctatgttgtTcactttctttgtgagctgtt	4	18	8	11	1	3	1	1	1	2	0	4	1	3	1	2	0	2	4	2	0	1	6			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr14:74433702T>C	ENST00000334696.6	-	16	1535	c.1216A>G	c.(1216-1218)Aac>Gac	p.N406D	ENTPD5_ENST00000557325.1_Intron	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	406					'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)		TCTATGTTGTTCACTTTCTTT	0.483																																																	0													132	112	118					14																	74433702		2203	4300	6503	SO:0001583	missense	0			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.1216A>G	14.37:g.74433702T>C	ENSP00000335246:p.Asn406Asp		A1L4C5|Q96RX0	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.N406D	ENST00000334696.6	37	c.1216	CCDS9825.1	14	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407408	0.62399	.	.	ENSG00000187097	ENST00000334696	T	0.11063	2.81	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	N	0.04768	-0.165	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	T	0.33548	-0.9864	10	0.08599	T	0.76	-31.1696	13.5657	0.61817	0.0:0.0:0.0:1.0	.	406	O75356	ENTP5_HUMAN	D	406	ENSP00000335246:N406D	ENSP00000335246:N406D	N	-	1	0	ENTPD5	73503455	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.108000	0.77055	2.131000	0.65755	0.379000	0.24179	AAC	ENTPD5	-	pfam_GDA1_CD39_NTPase	ENSG00000187097		0.483	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD5	HGNC	protein_coding	OTTHUMT00000412637.1	-	0	43	0	T	NM_001249		74433702	-1	tier1	-	no_errors	ENST00000334696	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	C	C	74433702	T	C	74433702	3	2	139	1	0	0	0	0	1	0	0	0	5158	1783	62	4	74	4	ENTPD5	14	74433702	Missense_Mutation	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09	37238904	74433702	32915838	119	35561											
JDP2	122953	genome.wustl.edu	37	chr14	75904636	75904636	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	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	ctcctgctatgatgcctgggCagatcccggacccttcggtg	5	10	12	14	2	0	2	0	1	0	1	3	3	2	3	4	3	2	2	4	3	1	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr14:75904636C>T	ENST00000435893.2	+	2	286	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	JDP2_ENST00000437176.1_Nonsense_Mutation_p.Q5*|JDP2_ENST00000419727.2_Nonsense_Mutation_p.Q5*|JDP2_ENST00000559773.1_3'UTR|JDP2_ENST00000267569.5_Nonsense_Mutation_p.Q16*	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	5					negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone deacetylation (GO:0031065)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)	Pseudoephedrine(DB00852)	GATGCCTGGGCAGATCCCGGA	0.662																																																	0													26	31	29					14																	75904636		2203	4300	6503	SO:0001587	stop_gained	0			AF111167	CCDS9842.1, CCDS45139.1	14q24.2	2013-01-10		2008-04-10				"basic leucine zipper proteins"	17546	protein-coding gene	gene with protein product	"progesterone receptor co-activator"	608657				12052888, 9154808, 17545590	Standard	NM_130469		Approved	JUNDM2	uc001xrq.3	Q8WYK2		ENST00000435893.2:c.13C>T	14.37:g.75904636C>T	ENSP00000399587:p.Gln5*		J3KN58|O95430|Q9UIE4	Nonsense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.Q16*	ENST00000435893.2	37	c.46	CCDS9842.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.963315	0.97151	.	.	ENSG00000140044	ENST00000419727;ENST00000437176;ENST00000435893;ENST00000267569	.	.	.	5.61	4.73	0.59995	.	0.067303	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-9.4944	12.8313	0.57748	0.0:0.9248:0.0:0.0752	.	.	.	.	X	5;5;5;16	.	ENSP00000267569:Q16X	Q	+	1	0	JDP2	74974389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.036000	0.76524	1.384000	0.46424	0.561000	0.74099	CAG	JDP2	-	NULL	ENSG00000140044		0.662	JDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JDP2	HGNC	protein_coding	OTTHUMT00000415505.1	-	0	54	0	C	NM_130469		75904636	1	tier1	-	no_errors	ENST00000267569	ensembl	human	known	74_37	nonsense	25.00	54	18	SNP	1.000	T	T	75904636	C	T	75904636	4	4	139	1	0	0	0	0	0	1	0	0	7974	711	25	3	52	3	JDP2	14	75904636	Nonsense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	1470934	75904636	31444904	120	35562											
TYRO3	7301	genome.wustl.edu	37	chr15	41865875	41865875	+	Splice_Site	SNP	A	A	T	1	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	cccaacctcgattctgtcccAgtgggcgttcggggtgacca	6	9	12	14	3	1	1	0	1	1	0	4	2	2	1	4	3	1	1	4	3	1	2	rs77680822		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:41865875A>T	ENST00000263798.3	+	18	2369		c.e18-1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATTCTGTCCCAGTGGGCGTTC	0.582																																																	0													81	75	77					15																	41865875		2203	4300	6503	SO:0001630	splice_region_variant	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2146-1A>T	15.37:g.41865875A>T			O14953|Q86VR3	Splice_Site	SNP	-	e18-2	ENST00000263798.3	37	c.2146-2	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863171	0.71949	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4348	0.75137	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39653167	1.000000	0.71417	0.957000	0.39632	0.794000	0.44872	9.339000	0.96797	2.048000	0.60808	0.533000	0.62120	.	TYRO3	-	-	ENSG00000092445		0.582	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2		0	61	0	A		Intron	41865875	1			no_errors	ENST00000263798	ensembl	human	known	74_37	splice_site	11.54	23	3	SNP	1.000	T	T	41865875	A	T	41865875	5	4	139	1	0	0	0	0	0	0	1	0	16863	202	7	5	2214	5	TYRO3	15	41865875	Splice_Site	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09		41865875	60665517	121	35563											
TGM7	116179	genome.wustl.edu	37	chr15	43574111	43574111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccatcttagtgctgatctCcttcccgatggaactggtgt	7	13	9	12	1	2	1	0	1	2	0	4	3	3	2	3	2	2	1	3	2	2	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:43574111C>T	ENST00000452443.2	-	9	1286	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	428					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)	GTGCTGATCTCCTTCCCGATG	0.572																																																	0													108	75	86					15																	43574111		2202	4299	6501	SO:0001583	missense	0			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.1282G>A	15.37:g.43574111C>T	ENSP00000389466:p.Glu428Lys			Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E428K	ENST00000452443.2	37	c.1282	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316767	0.23908	.	.	ENSG00000159495	ENST00000452443	T	0.72725	-0.68	5.36	2.06	0.26882	.	0.882533	0.10083	N	0.718174	T	0.42810	0.1219	N	0.04162	-0.26	0.20074	N	0.999936	B	0.06786	0.001	B	0.06405	0.002	T	0.24657	-1.0154	10	0.29301	T	0.29	-3.4965	2.8681	0.05608	0.1977:0.448:0.0:0.3544	.	428	Q96PF1	TGM7_HUMAN	K	428	ENSP00000389466:E428K	ENSP00000389466:E428K	E	-	1	0	TGM7	41361403	0.000000	0.05858	0.961000	0.40146	0.437000	0.31866	0.450000	0.21762	0.655000	0.30866	-0.150000	0.13652	GAG	TGM7	-	NULL	ENSG00000159495		0.572	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	HGNC	protein_coding	OTTHUMT00000432489.1	-	0	60	0	C	NM_052955		43574111	-1	tier1	-	no_errors	ENST00000452443	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.514	T	T	43574111	C	T	43574111	3	4	139	1	0	0	0	0	1	0	0	0	15882	864	30	3	870	3	TGM7	15	43574111	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	1708236	43574111	58957281	122	35564											
DUOX2	50506	genome.wustl.edu	37	chr15	45386802	45386803	+	Frame_Shift_Ins	INS	-	-	G																															gagttgaagaagggctcgaaINSggggggacggccaaagtggg																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:45386802_45386803insG	ENST00000603300.1	-	33	4684_4685	c.4482_4483insC	c.(4480-4485)cccttcfs	p.F1495fs	DUOX2_ENST00000389039.6_Frame_Shift_Ins_p.F1495fs	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1495					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)		AAGGGCTCGAAGGGGGGACGGC	0.639																																																	0																																										SO:0001589	frameshift_variant	0			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.4483dupC	15.37:g.45386808_45386808dupG	ENSP00000475084:p.Phe1495fs		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Frame_Shift_Ins	INS	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.F1494fs	ENST00000603300.1	37	c.4483_4482	CCDS10117.1	15																																																																																			DUOX2	-	pfam_Fe_red_NAD-bd_6	ENSG00000140279		0.639	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding			0	80	0	-	NM_014080		45386803	-1	tier1		no_errors	ENST00000389039	ensembl	human	known	74_37	frame_shift_ins	7.69	24	2	INS	1.000:0.997	G	G	45386803	-	G	45386802	7	5	139	1	0	1	1	0	0	0	0	0	4815	72	3	0	171	0	DUOX2	15	45386802	Frame_Shift_Ins	INS	-	TCGA-R6-A6DN-01B-11D-A31U-09	1812691	45386802	57144590	123	35565											
DMXL2	23312	genome.wustl.edu	37	chr15	51773255	51773255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgttaataacatgttaggGtctgaggccttctgatctga	9	14	12	6	0	3	3	0	3	3	0	3	3	3	3	1	3	1	2	1	3	3	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:51773255G>T	ENST00000251076.5	-	24	6335	c.6048C>A	c.(6046-6048)gaC>gaA	p.D2016E	DMXL2_ENST00000449909.3_Missense_Mutation_p.D1380E|DMXL2_ENST00000543779.2_Missense_Mutation_p.D2016E|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2016						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)		ACATGTTAGGGTCTGAGGCCT	0.398																																																	0													163	160	161					15																	51773255		2196	4293	6489	SO:0001583	missense	0			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.6048C>A	15.37:g.51773255G>T	ENSP00000251076:p.Asp2016Glu		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D2016E	ENST00000251076.5	37	c.6048	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194608	0.22037	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.77229	-1.08;-1.08;-1.08	5.65	0.0941	0.14479	.	0.242018	0.48286	N	0.000192	T	0.56140	0.1965	L	0.28115	0.83	0.31301	N	0.688319	B;P;B;B	0.49185	0.019;0.92;0.104;0.002	B;B;B;B	0.40982	0.012;0.345;0.069;0.006	T	0.58002	-0.7713	10	0.28530	T	0.3	.	2.6836	0.05101	0.1957:0.2218:0.4687:0.1138	.	2016;1380;2016;2016	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	E	2016;2016;1380	ENSP00000251076:D2016E;ENSP00000441858:D2016E;ENSP00000400855:D1380E	ENSP00000251076:D2016E	D	-	3	2	DMXL2	49560547	0.017000	0.18338	0.743000	0.31040	0.341000	0.28922	-0.120000	0.10660	0.008000	0.14787	0.650000	0.86243	GAC	DMXL2	-	NULL	ENSG00000104093		0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	-	0	55	0	G	NM_015263		51773255	-1	tier1	-	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.813	T	T	51773255	G	T	51773255	3	4	139	1	0	0	0	0	1	0	0	0	4609	1252	44	3	3145	3	DMXL2	15	51773255	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	6386453	51773255	50758137	124	35566											
SNX1	6642	genome.wustl.edu	37	chr15	64410418	64410418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggaagccacaaattcttCgaagccccagccaacctatg	13	7	7	14	1	2	0	1	0	1	0	3	2	2	1	5	1	4	0	5	1	5	3	rs138423671		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:64410418C>T	ENST00000559844.1	+	3	388	c.374C>T	c.(373-375)tCg>tTg	p.S125L	SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000353874.4_Missense_Mutation_p.S125L|SNX1_ENST00000261889.5_Missense_Mutation_p.S125L|SNX1_ENST00000561026.1_Intron			Q13596	SNX1_HUMAN	sorting nexin 1	125					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						ACAAATTCTTCGAAGCCCCAG	0.473																																																	0								C	LEU/SER,	1,4405	2.1+/-5.4	0,1,2202	116	105	109		374,	5.4	1	15	dbSNP_134	109	0,8600		0,0,4300	no	missense,intron	SNX1	NM_003099.4,NM_148955.3	145,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,	125/523,	64410418	1,13005	2203	4300	6503	SO:0001583	missense	0			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.374C>T	15.37:g.64410418C>T	ENSP00000453785:p.Ser125Leu		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.S125L	ENST00000559844.1	37	c.374	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852229	0.32699	2.27E-4	0.0	ENSG00000028528	ENST00000380285;ENST00000353874	T	0.58060	0.36	5.44	5.44	0.79542	.	1.046440	0.07389	N	0.888796	T	0.49474	0.1559	L	0.38175	1.15	0.35217	D	0.775645	B;B;B;B;B	0.27679	0.015;0.185;0.002;0.013;0.002	B;B;B;B;B	0.24394	0.025;0.005;0.005;0.053;0.003	T	0.44651	-0.9314	10	0.46703	T	0.11	-15.3179	16.7957	0.85601	0.0:1.0:0.0:0.0	.	125;35;125;125;125	Q6ZRJ8;Q59GU6;Q53GY8;A6NKH4;Q13596	.;.;.;.;SNX1_HUMAN	L	125	ENSP00000326668:S125L	ENSP00000326668:S125L	S	+	2	0	SNX1	62197471	1.000000	0.71417	0.998000	0.56505	0.072000	0.16883	4.829000	0.62737	2.719000	0.93026	0.655000	0.94253	TCG	SNX1	-	pfam_Sorting_nexin_N	ENSG00000028528		0.473	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	HGNC	protein_coding	OTTHUMT00000418559.1	-	0	80	0	C	NM_003099		64410418	1	tier1	rs138423671	no_errors	ENST00000559844	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.998	T	T	64410418	C	T	64410418	3	4	139	1	0	0	0	0	1	0	0	0	14925	893	31	1	384	1	SNX1	15	64410418	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	12637163	64410418	38120974	125	35567											
STOML1	9399	genome.wustl.edu	37	chr15	74277035	74277035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaagtaggcgctttgggtgCcgctgggcaggacgacattg	7	8	18	8	3	0	0	0	0	0	0	0	3	0	2	1	5	1	4	1	5	2	3	rs2277600		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:74277035C>T	ENST00000316900.5	-	6	1092	c.968G>A	c.(967-969)gGc>gAc	p.G323D	STOML1_ENST00000316911.6_Missense_Mutation_p.G273D|STOML1_ENST00000561656.1_Missense_Mutation_p.G235D|STOML1_ENST00000564777.1_Missense_Mutation_p.G272D|STOML1_ENST00000541638.1_Missense_Mutation_p.G280D|STOML1_ENST00000359750.4_Intron	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	323	SCP2.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCTTTGGGTGCCGCTGGGCAG	0.612																																																	0													57	47	51					15																	74277035		2198	4297	6495	SO:0001583	missense	0			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.968G>A	15.37:g.74277035C>T	ENSP00000319323:p.Gly323Asp		B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin	p.G323D	ENST00000316900.5	37	c.968	CCDS10254.1	15	.	.	.	.	.	.	.	.	.	.	C	14.04	2.418150	0.42918	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638	T;T;T	0.23552	1.9;1.9;1.9	4.48	3.56	0.40772	SCP2 sterol-binding domain (2);	0.107489	0.64402	N	0.000006	T	0.24736	0.0600	L	0.52011	1.625	0.54753	D	0.99998	B;B;B;B	0.29162	0.235;0.082;0.235;0.235	B;B;B;B	0.32465	0.146;0.058;0.146;0.146	T	0.06285	-1.0835	10	0.54805	T	0.06	-19.472	9.5677	0.39409	0.0:0.9019:0.0:0.0981	.	280;273;322;323	B4DUU5;Q9UBI4-2;Q53HB6;Q9UBI4	.;.;.;STML1_HUMAN	D	323;273;280	ENSP00000319323:G323D;ENSP00000319384:G273D;ENSP00000442478:G280D	ENSP00000319323:G323D	G	-	2	0	STOML1	72064088	0.974000	0.33945	0.981000	0.43875	0.807000	0.45602	4.130000	0.57964	1.105000	0.41606	0.561000	0.74099	GGC	STOML1	-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	ENSG00000067221		0.612	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML1	HGNC	protein_coding	OTTHUMT00000269022.1	-	0	67	0	C	NM_004809		74277035	-1	tier1	-	no_errors	ENST00000316900	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.998	T	T	74277035	C	T	74277035	3	4	139	1	0	0	0	0	1	0	0	0	15360	739	26	3	236	3	STOML1	15	74277035	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	9866617	74277035	28254357	126	35568											
ZNF710	374655	genome.wustl.edu	37	chr15	90610957	90610957	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacttcccggccccggcccgGgatggcttccccgagcccag	4	5	12	20	4	0	0	0	0	0	0	2	2	2	1	7	4	1	1	7	4	0	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:90610957G>T	ENST00000268154.4	+	2	839	c.588G>T	c.(586-588)cgG>cgT	p.R196R		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	196	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(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CCCCGGCCCGGGATGGCTTCC	0.721																																																	0													13	17	16					15																	90610957		2137	4242	6379	SO:0001819	synonymous_variant	0			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.588G>T	15.37:g.90610957G>T			A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R196	ENST00000268154.4	37	c.588	CCDS10358.1	15																																																																																			ZNF710	-	NULL	ENSG00000140548		0.721	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1	-	0	32	0	G	NM_198526		90610957	1	tier1	-	no_errors	ENST00000268154	ensembl	human	known	74_37	silent	75.00	1	3	SNP	0.012	T	T	90610957	G	T	90610957	2	4	139	1	0	0	0	0	0	0	0	1	18163	1219	43	3		3	ZNF710	15	90610957	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	16333922	90610957	11920435	127	35569											
SEPT1	1731	genome.wustl.edu	37	chr16	30391324	30391324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcggggaactggtagatgtGgatctcctcttccttcaact	7	14	10	10	1	3	1	1	0	2	1	6	3	4	3	2	4	2	1	2	4	3	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:30391324G>A	ENST00000571393.1	-	8	775	c.589C>T	c.(589-591)Cac>Tac	p.H197Y	SEPT1_ENST00000605106.1_Missense_Mutation_p.H202Y|SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000321367.3_Missense_Mutation_p.H244Y			Q8WYJ6	SEPT1_HUMAN	septin 1	197	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TGGTAGATGTGGATCTCCTCT	0.488																																																	0													144	124	131					16																	30391324		2197	4300	6497	SO:0001583	missense	0			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.589C>T	16.37:g.30391324G>A	ENSP00000460441:p.His197Tyr		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.H244Y	ENST00000571393.1	37	c.730		16	.	.	.	.	.	.	.	.	.	.	G	14.45	2.537716	0.45176	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.69	4.6	0.57074	.	0.172029	0.41097	D	0.000960	T	0.36580	0.0972	L	0.28400	0.85	0.26730	N	0.970606	B	0.33448	0.412	B	0.39805	0.31	T	0.35201	-0.9798	9	0.72032	D	0.01	.	11.443	0.50107	0.0:0.0:0.2997:0.7003	.	197	Q8WYJ6	SEPT1_HUMAN	Y	197	.	ENSP00000324511:H197Y	H	-	1	0	SEPT1	30298825	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.947000	0.49058	1.016000	0.39470	-0.271000	0.10264	CAC	SEPT1	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000180096		0.488	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding		-	0	41	0	G	NM_052838		30391324	-1	tier1	-	no_errors	ENST00000321367	ensembl	human	known	74_37	missense	53.33	7	8	SNP	1.000	A	A	30391324	G	A	30391324	3	1	139	1	0	0	0	0	1	0	0	0	14104	1348	47	3	534	3	SEPT1	16	30391324	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09		30391324	59963429	128	35570											
FUS	2521	genome.wustl.edu	37	chr16	31199660	31199660	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaggccctcgggaccaaGgatcacgtcatgactccggt	10	7	11	13	3	2	1	2	1	0	0	4	3	3	3	3	4	0	0	3	4	3	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:31199660G>T	ENST00000254108.7	+	8	919	c.814G>T	c.(814-816)Gga>Tga	p.G272*	FUS_ENST00000380244.3_Nonsense_Mutation_p.G271*|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Nonsense_Mutation_p.G272*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	272					cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TCGGGACCAAGGATCACGTCA	0.413			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																			Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	0													91	93	93					16																	31199660		2197	4300	6497	SO:0001587	stop_gained	0			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.814G>T	16.37:g.31199660G>T	ENSP00000254108:p.Gly272*		Q9H4A8	Nonsense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.G272*	ENST00000254108.7	37	c.814	CCDS10707.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.313231|6.313231	0.97467|0.97467	.|.	.|.	ENSG00000089280|ENSG00000089280	ENST00000254108;ENST00000394533|ENST00000380244	.|.	.|.	.|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73110	.|0.3545	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78529	.|-0.2169	.|4	0.87932|0.54805	D|T	0|0.06	-3.7451|-3.7451	15.4617|15.4617	0.75363|0.75363	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	272;201|33	.|.	ENSP00000254108:G272X|ENSP00000369594:K33N	G|K	+|+	1|3	0|2	FUS|FUS	31107161|31107161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.702000|5.702000	0.68332|0.68332	2.373000|2.373000	0.80994|0.80994	0.491000|0.491000	0.48974|0.48974	GGA|AAG	FUS	-	NULL	ENSG00000089280		0.413	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FUS	HGNC	protein_coding	OTTHUMT00000255526.2	-	0	16	0	G	NM_004960		31199660	1	tier1	-	no_errors	ENST00000254108	ensembl	human	known	74_37	nonsense	36.36	7	4	SNP	1.000	T	T	31199660	G	T	31199660	4	4	139	1	0	0	0	0	0	1	0	0	6124	1001	35	3	844	3	FUS	16	31199660	Nonsense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	808336	31199660	59155093	129	35571											
BBS2	583	genome.wustl.edu	37	chr16	56531752	56531752	+	Missense_Mutation	SNP	A	A	G	1	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	atgatgccattgactggatgAtatcaccagccaaatcaata	15	10	7	9	0	2	3	2	3	0	0	2	4	2	4	3	1	2	0	3	1	4	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:56531752A>G	ENST00000245157.5	-	14	2120	c.1700T>C	c.(1699-1701)aTc>aCc	p.I567T	BBS2_ENST00000568104.1_Intron	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	567					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGACTGGATGATATCACCAGC	0.358									Bardet-Biedl syndrome																																								0													99	93	95					16																	56531752		2198	4300	6498	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1700T>C	16.37:g.56531752A>G	ENSP00000245157:p.Ile567Thr		Q96CM0|Q96SN9	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot	p.I567T	ENST00000245157.5	37	c.1700	CCDS32451.1	16	.	.	.	.	.	.	.	.	.	.	A	18.75	3.689957	0.68271	.	.	ENSG00000125124	ENST00000245157	D	0.92595	-3.07	5.27	5.27	0.74061	.	0.227358	0.45606	D	0.000360	D	0.92599	0.7649	M	0.71581	2.175	0.58432	D	0.999999	B	0.29253	0.239	B	0.37304	0.246	D	0.92312	0.5858	10	0.87932	D	0	-7.2822	15.487	0.75575	1.0:0.0:0.0:0.0	.	567	Q9BXC9	BBS2_HUMAN	T	567	ENSP00000245157:I567T	ENSP00000245157:I567T	I	-	2	0	BBS2	55089253	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.233000	0.95337	2.115000	0.64714	0.459000	0.35465	ATC	BBS2	-	pirsf_Bardet-Biedl_syndrome_2_prot	ENSG00000125124		0.358	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS2	HGNC	protein_coding	OTTHUMT00000434386.2	-	0	26	0	A	NM_031885		56531752	-1	tier1	-	no_errors	ENST00000245157	ensembl	human	known	74_37	missense	78.79	7	26	SNP	1.000	G	G	56531752	A	G	56531752	3	3	139	1	0	0	0	0	1	0	0	0	1339	333	12	4	481	4	BBS2	16	56531752	Missense_Mutation	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09	25332092	56531752	33823001	130	35572											
TERF2	7014	genome.wustl.edu	37	chr16	69400729	69400729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgggattcttctctccagGgaggggttggttgagaacgg	6	12	16	7	1	2	1	0	1	2	1	4	4	3	3	1	6	1	2	1	6	1	5			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:69400729G>A	ENST00000254942.3	-	7	1337	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	TERF2_ENST00000603068.1_Missense_Mutation_p.P399S|TERF2_ENST00000569611.2_5'Flank	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	441					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				TTCTCTCCAGGGAGGGGTTGG	0.557																																					Ovarian(13;63 524 30420 31710 34037)												0													59	58	59					16																	69400729		2198	4300	6498	SO:0001583	missense	0				CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1321C>T	16.37:g.69400729G>A	ENSP00000254942:p.Pro441Ser			Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.P441S	ENST00000254942.3	37	c.1321		16	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.589408	0.00864	.	.	ENSG00000132604	ENST00000254942	.	.	.	6.07	1.46	0.22682	.	0.633204	0.16892	N	0.195288	T	0.15912	0.0383	N	0.24115	0.695	0.18873	N	0.999989	B	0.18461	0.028	B	0.15870	0.014	T	0.28073	-1.0055	9	0.05525	T	0.97	-2.1489	3.1017	0.06328	0.326:0.0:0.486:0.1881	.	399	Q15554	TERF2_HUMAN	S	399	.	ENSP00000254942:P399S	P	-	1	0	TERF2	67958230	0.000000	0.05858	0.006000	0.13384	0.096000	0.18686	-0.055000	0.11807	0.431000	0.26258	0.655000	0.94253	CCT	TERF2	-	pirsf_Telomere_repeat-bd-1/2	ENSG00000132604		0.557	TERF2-001	KNOWN	basic	protein_coding	TERF2	HGNC	protein_coding	OTTHUMT00000268944.2	-	0	50	0	G			69400729	-1	tier1	-	no_errors	ENST00000254942	ensembl	human	known	74_37	missense	55.38	29	36	SNP	0.010	A	A	69400729	G	A	69400729	3	1	139	1	0	0	0	0	1	0	0	0	15809	1232	43	3	323	3	TERF2	16	69400729	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	12868977	69400729	20954024	131	35573											
DDX19B	11269	genome.wustl.edu	37	chr16	70363251	70363251	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggcacccctgggactgtgCtggactggtgctccaagctc	5	10	13	13	0	0	0	0	0	0	0	2	2	1	2	3	4	3	4	3	4	1	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:70363251C>T	ENST00000288071.6	+	8	909	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	DDX19B_ENST00000568625.1_Silent_p.L113L|DDX19B_ENST00000355992.3_Silent_p.L191L|DDX19B_ENST00000393657.2_Silent_p.L113L|RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000563206.1_Silent_p.L227L|DDX19B_ENST00000451014.3_Silent_p.L196L|DDX19B_ENST00000563392.1_Silent_p.L113L	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	222	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TGGGACTGTGCTGGACTGGTG	0.493																																					Esophageal Squamous(26;382 757 1343 9728 15939)												0													129	114	119					16																	70363251		2198	4300	6498	SO:0001819	synonymous_variant	0			AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"DEAD-boxes"	2742	protein-coding gene	gene with protein product		605812	"DEAD (Asp-Glu-Ala-As) box polypeptide 19", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.664C>T	16.37:g.70363251C>T			B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L222	ENST00000288071.6	37	c.664	CCDS10888.1	16																																																																																			DDX19B	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000157349		0.493	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19B	HGNC	protein_coding	OTTHUMT00000268965.3		0	98	0	C	NM_007242		70363251	1			no_errors	ENST00000288071	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	T	T	70363251	C	T	70363251	2	4	139	1	0	0	0	0	0	0	0	1	4356	796	28	3		3	DDX19B	16	70363251	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	962522	70363251	19991502	132	35574											
BCAR1	9564	genome.wustl.edu	37	chr16	75263905	75263905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgacacctcctgttccagtCgttcaaactgcttcagctgg	7	12	9	13	1	2	1	2	1	0	0	5	1	4	1	3	1	3	4	3	1	1	3	rs376571253		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:75263905C>T	ENST00000162330.5	-	7	2243	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q	BCAR1_ENST00000418647.3_Missense_Mutation_p.R752Q|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000538440.2_Missense_Mutation_p.R706Q|BCAR1_ENST00000546196.1_Missense_Mutation_p.R677Q|BCAR1_ENST00000393422.2_Missense_Mutation_p.R724Q|BCAR1_ENST00000542031.2_Missense_Mutation_p.R704Q|BCAR1_ENST00000535626.2_Missense_Mutation_p.R558Q|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.R724Q|BCAR1_ENST00000393420.6_Missense_Mutation_p.R724Q	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	706					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)		CTGTTCCAGTCGTTCAAACTG	0.672																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4325		0,1,2162	30	36	34		2255,2171,2171,2171,2117,2111,1673,1487,2117	4.7	0.9	16		34	0,8480		0,0,4240	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	43,43,43,43,43,43,43,43,43	0,1,6402	TT,TC,CC		0.0,0.0231,0.0078	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	752/917,724/889,724/889,724/889,706/871,704/869,558/723,496/661,706/871	75263905	1,12805	2163	4240	6403	SO:0001583	missense	0			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.2117G>A	16.37:g.75263905C>T	ENSP00000162330:p.Arg706Gln		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.R752Q	ENST00000162330.5	37	c.2255	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637540	0.47049	2.31E-4	0.0	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;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;1.92	4.72	4.72	0.59763	CAS family, DUF3513 (1);	0.162448	0.41605	D	0.000857	T	0.37732	0.1014	L	0.29908	0.895	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D	0.83275	0.986;0.994;0.986;0.975;0.975;0.986;0.994;0.986;0.996	T	0.06267	-1.0836	10	0.20519	T	0.43	-6.7934	16.6397	0.85068	0.0:1.0:0.0:0.0	.	724;558;752;704;724;724;706;706;496	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	Q	706;724;724;706;752;558;724;704;677	ENSP00000162330:R706Q;ENSP00000377074:R724Q;ENSP00000392708:R724Q;ENSP00000443841:R706Q;ENSP00000391669:R752Q;ENSP00000440370:R558Q;ENSP00000377072:R724Q;ENSP00000440415:R704Q;ENSP00000442161:R677Q	ENSP00000162330:R706Q	R	-	2	0	BCAR1	73821406	0.992000	0.36948	0.946000	0.38457	0.463000	0.32649	2.999000	0.49473	2.328000	0.79073	0.557000	0.71058	CGA	BCAR1	-	pfam_CAS_DUF3513	ENSG00000050820		0.672	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1	-	0	45	0	C	NM_014567		75263905	-1	tier1	-	no_errors	ENST00000418647	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.994	T	T	75263905	C	T	75263905	3	4	139	1	0	0	0	0	1	0	0	0	1349	884	31	1	499	1	BCAR1	16	75263905	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	4900654	75263905	15090848	133	35575											
TP53	7157	genome.wustl.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs397516437|rs121912651		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	0	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	37	0	G	NM_000546		7577539	-1	tier1	rs121912651	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	89.13	5	41	SNP	1.000	A	A	7577539	G	A	7577539	3	1	139	1	0	0	0	0	1	0	0	0	16429	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09		7577539	73617671	134	35576											
NTN1	9423	genome.wustl.edu	37	chr17	9083223	9083223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgggtatcacctgcaaccGctgcgccaaaggctaccagc	10	5	11	15	3	1	0	1	0	0	0	1	1	1	0	4	2	5	4	4	2	4	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:9083223G>A	ENST00000173229.2	+	4	1414	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	NTN1_ENST00000546090.1_Missense_Mutation_p.R436H|RP11-85B7.2_ENST00000574307.2_RNA|NTN1_ENST00000538852.1_Missense_Mutation_p.R436H	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	436	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						ACCTGCAACCGCTGCGCCAAA	0.612																																																	0													70	59	63					17																	9083223		2203	4300	6503	SO:0001583	missense	0			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.1307G>A	17.37:g.9083223G>A	ENSP00000173229:p.Arg436His		E9KL51	Missense_Mutation	SNP	pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.R436H	ENST00000173229.2	37	c.1307	CCDS11148.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.623230	0.96660	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090;ENST00000436734	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.77	5.77	0.91146	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.80523	0.4639	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80694	-0.1268	10	0.59425	D	0.04	.	19.9716	0.97286	0.0:0.0:1.0:0.0	.	436	O95631	NET1_HUMAN	H	436;436;436;56	ENSP00000173229:R436H;ENSP00000443259:R436H;ENSP00000441611:R436H;ENSP00000389375:R56H	ENSP00000173229:R436H	R	+	2	0	NTN1	9023948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.467000	0.97671	2.718000	0.92993	0.655000	0.94253	CGC	NTN1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000065320		0.612	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN1	HGNC	protein_coding	OTTHUMT00000252583.1	-	0	44	0	G			9083223	1	tier1	-	no_errors	ENST00000173229	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A	A	9083223	G	A	9083223	3	1	139	1	0	0	0	0	1	0	0	0	10739	1087	38	1	1317	1	NTN1	17	9083223	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	1505684	9083223	72111987	135	35577											
SHMT1	6470	genome.wustl.edu	37	chr17	18251744	18251744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcaataaactcagtccCgccatagtatctgtgggaga	12	11	8	10	1	4	1	3	0	1	1	5	2	5	1	2	1	1	1	2	1	5	4	rs373431106		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:18251744C>T	ENST00000316694.3	-	4	387	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	SHMT1_ENST00000354098.3_Missense_Mutation_p.G85R|SHMT1_ENST00000539052.1_Intron|SHMT1_ENST00000352886.6_Missense_Mutation_p.G85R	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	85					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)	AACTCAGTCCCGCCATAGTAT	0.547																																																	0								C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	60	59	59		253,253	5.7	0.8	17		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SHMT1	NM_004169.3,NM_148918.1	125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	85/484,85/445	18251744	1,13005	2203	4300	6503	SO:0001583	missense	0				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.253G>A	17.37:g.18251744C>T	ENSP00000318868:p.Gly85Arg		B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	p.G85R	ENST00000316694.3	37	c.253	CCDS11196.1	17	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261166	0.59431	0.0	1.16E-4	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000354098;ENST00000395685;ENST00000329968	T;T;T	0.70399	-0.48;-0.48;-0.48	5.65	5.65	0.86999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.046779	0.85682	D	0.000000	D	0.92260	0.7545	H	0.99668	4.69	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.97110	1.0;0.983;0.994;0.992	D	0.95158	0.8279	10	0.72032	D	0.01	-21.0752	20.0965	0.97849	0.0:1.0:0.0:0.0	.	85;85;85;85	B4DZB5;A8MYA6;P34896-2;P34896	.;.;.;GLYC_HUMAN	R	85;85;85;85;66	ENSP00000318868:G85R;ENSP00000345881:G85R;ENSP00000318805:G85R	ENSP00000318868:G85R	G	-	1	0	SHMT1	18192469	1.000000	0.71417	0.769000	0.31535	0.909000	0.53808	7.645000	0.83430	2.824000	0.97209	0.655000	0.94253	GGG	SHMT1	-	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	ENSG00000176974		0.547	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT1	HGNC	protein_coding	OTTHUMT00000130831.2	-	0	61	0	C	NM_004169		18251744	-1	tier1	-	no_errors	ENST00000316694	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	T	T	18251744	C	T	18251744	3	4	139	1	0	0	0	0	1	0	0	0	14330	652	23	1	1234	1	SHMT1	17	18251744	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	9168521	18251744	62943466	136	35578											
ULK2	9706	genome.wustl.edu	37	chr17	19689396	19689396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaccacaggctcctgccGgagctacaacaaaaagttta	14	6	7	14	1	0	0	0	0	0	0	1	1	1	1	4	2	4	3	4	2	5	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:19689396G>T	ENST00000395544.4	-	21	2604	c.2105C>A	c.(2104-2106)cCg>cAg	p.P702Q	ULK2_ENST00000361658.2_Missense_Mutation_p.P702Q	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	702					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)	p.P702L(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGCTCCTGCCGGAGCTACAAC	0.498																																																	1	Substitution - Missense(1)	endometrium(1)											39	39	39					17																	19689396		2203	4300	6503	SO:0001583	missense	0			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.2105C>A	17.37:g.19689396G>T	ENSP00000378914:p.Pro702Gln		A8MY69|O75119	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P702Q	ENST00000395544.4	37	c.2105	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583919	0.86748	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.42513	0.97;0.97	5.51	5.51	0.81932	.	0.052548	0.85682	D	0.000000	T	0.61022	0.2314	L	0.49126	1.545	0.54753	D	0.999989	D	0.89917	1.0	D	0.81914	0.995	T	0.62492	-0.6843	10	0.87932	D	0	-17.5108	18.4087	0.90543	0.0:0.0:1.0:0.0	.	702	Q8IYT8	ULK2_HUMAN	Q	702	ENSP00000354877:P702Q;ENSP00000378914:P702Q	ENSP00000354877:P702Q	P	-	2	0	ULK2	19629988	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	8.371000	0.90123	2.602000	0.87976	0.536000	0.68110	CCG	ULK2	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000083290		0.498	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2		0	45	0	G	NM_014683		19689396	-1			no_errors	ENST00000361658	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	19689396	G	T	19689396	3	4	139	1	0	0	0	0	1	0	0	0	17025	1116	39	2	1033	2	ULK2	17	19689396	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	1437652	19689396	61505814	137	35579											
SUPT6H	6830	genome.wustl.edu	37	chr17	27026896	27026896	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtttaaggatcactacCaggatcctgtaccaggtgag	11	10	12	8	0	1	1	1	1	0	0	2	4	2	3	3	4	2	2	3	4	3	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:27026896C>T	ENST00000314616.6	+	33	4829	c.4546C>T	c.(4546-4548)Cag>Tag	p.Q1516*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Q1516*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1516					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)	p.Q1516K(1)		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)					GGATCACTACCAGGATCCTGT	0.527																																																	1	Substitution - Missense(1)	lung(1)											151	141	144					17																	27026896		2203	4300	6503	SO:0001587	stop_gained	0			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.4546C>T	17.37:g.27026896C>T	ENSP00000319104:p.Gln1516*		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.Q1516*	ENST00000314616.6	37	c.4546	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	46	12.784829	0.99696	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.14	5.14	0.70334	.	0.055925	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-16.6471	18.6095	0.91279	0.0:1.0:0.0:0.0	.	.	.	.	X	1516	.	ENSP00000319104:Q1516X	Q	+	1	0	SUPT6H	24051023	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.471000	0.80985	2.414000	0.81942	0.462000	0.41574	CAG	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.527	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	90	0	C	NM_003170		27026896	1	tier1	-	no_errors	ENST00000314616	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	1.000	T	T	27026896	C	T	27026896	4	4	139	1	0	0	0	0	0	1	0	0	15447	595	21	3	4672	3	SUPT6H	17	27026896	Nonsense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	7337500	27026896	54168314	138	35580											
MLX	6945	genome.wustl.edu	37	chr17	40719147	40719147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	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	gtccggtgggtacaagatgaCggagccgggcgcctctcccg	6	6	16	13	5	1	2	0	1	1	1	3	3	2	3	4	4	2	1	4	4	2	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:40719147C>G	ENST00000246912.4	+	1	58	c.5C>G	c.(4-6)aCg>aGg	p.T2R	MLX_ENST00000435881.2_Missense_Mutation_p.T2R|MLX_ENST00000346833.4_Missense_Mutation_p.T2R	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	2					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TACAAGATGACGGAGCCGGGC	0.766																																					GBM(121;657 1601 4665 24731 34640)												0													2	3	3					17																	40719147		1799	3640	5439	SO:0001583	missense	0			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	11645	protein-coding gene	gene with protein product		602976	"transcription factor-like 4", "MAX-like protein X"	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.5C>G	17.37:g.40719147C>G	ENSP00000246912:p.Thr2Arg		A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.T2R	ENST00000246912.4	37	c.5	CCDS11430.1	17	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525514	0.64860	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	D;D;T	0.81908	-1.52;-1.55;-1.35	6.04	6.04	0.98038	.	0.061372	0.64402	D	0.000005	D	0.83862	0.5346	N	0.19112	0.55	0.40942	D	0.98447	D;D;P	0.76494	0.979;0.999;0.928	B;P;P	0.62298	0.439;0.9;0.656	D	0.86104	0.1558	10	0.87932	D	0	-14.2114	16.0793	0.80989	0.0:1.0:0.0:0.0	.	2;2;2	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	R	2	ENSP00000320913:T2R;ENSP00000246912:T2R;ENSP00000416627:T2R	ENSP00000246912:T2R	T	+	2	0	MLX	37972673	1.000000	0.71417	0.972000	0.41901	0.236000	0.25371	3.814000	0.55643	2.873000	0.98535	0.561000	0.74099	ACG	MLX	-	NULL	ENSG00000108788		0.766	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLX	HGNC	protein_coding	OTTHUMT00000450415.1		0	12	0	C	NM_170607		40719147	1			no_errors	ENST00000246912	ensembl	human	known	74_37	missense	50.00	2	2	SNP	1.000	G	G	40719147	C	G	40719147	3	3	139	1	0	0	0	0	1	0	0	0	9673	536	19	5	7	5	MLX	17	40719147	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	13692251	40719147	40476063	139	35581											
CDC27	996	genome.wustl.edu	37	chr17	45249404	45249404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggtaataacaggttgccaGtaaaaacaaggcttcttctg	13	10	10	8	1	2	0	0	0	2	0	2	0	2	0	1	3	3	4	1	3	6	6			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:45249404G>T	ENST00000066544.3	-	3	223	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Intron|CDC27_ENST00000527547.1_Missense_Mutation_p.L44M|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Missense_Mutation_p.L44M	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	44					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						caggttgccagtaaaaacaag	0.348																																																	0													30	29	29					17																	45249404		2202	4299	6501	SO:0001583	missense	0			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.130C>A	17.37:g.45249404G>T	ENSP00000066544:p.Leu44Met		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L44M	ENST00000066544.3	37	c.130	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971046	0.74246	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000527547;ENST00000526866	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.69	2.56	0.30785	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	D	0.83617	0.5293	M	0.79343	2.45	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	0.82370	-0.0491	10	0.87932	D	0	-23.3662	8.9417	0.35733	0.2508:0.0:0.7492:0.0	.	44;44;44	G5EA36;G3V1C4;P30260	.;.;CDC27_HUMAN	M	44	ENSP00000066544:L44M;ENSP00000434614:L44M;ENSP00000437339:L44M;ENSP00000432105:L44M	ENSP00000066544:L44M	L	-	1	2	CDC27	42604403	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.380000	0.34351	0.308000	0.22923	0.591000	0.81541	CTG	CDC27	-	NULL	ENSG00000004897		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	-	0	35	0	G			45249404	-1	tier1	-	no_errors	ENST00000531206	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	T	T	45249404	G	T	45249404	3	4	139	1	0	0	0	0	1	0	0	0	3073	1020	36	3	2430	3	CDC27	17	45249404	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	4530257	45249404	35945806	140	35582											
ACSF2	80221	genome.wustl.edu	37	chr17	48538652	48538652	+	Missense_Mutation	SNP	A	A	G	1	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	cattggcctctgcaaaggtgAccggctgggcatgtggggac	7	8	16	10	1	1	1	0	1	1	0	1	2	1	2	2	6	1	3	2	6	1	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:48538652A>G	ENST00000300441.4	+	3	478	c.374A>G	c.(373-375)gAc>gGc	p.D125G	ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Missense_Mutation_p.D150G|ACSF2_ENST00000502667.1_Missense_Mutation_p.D125G|ACSF2_ENST00000504392.1_Intron	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	125					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)			TGCAAAGGTGACCGGCTGGGC	0.607																																																	0													53	47	49					17																	48538652		2203	4300	6503	SO:0001583	missense	0			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.374A>G	17.37:g.48538652A>G	ENSP00000300441:p.Asp125Gly		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D125G	ENST00000300441.4	37	c.374	CCDS11567.1	17	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801495	0.90538	.	.	ENSG00000167107	ENST00000300441;ENST00000427954;ENST00000502667	T;T;T	0.59906	0.23;0.23;0.23	5.28	5.28	0.74379	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.81828	0.4905	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86918	0.2065	10	0.87932	D	0	-34.1155	14.9075	0.70730	1.0:0.0:0.0:0.0	.	125;150;125	B4DHT5;B4DFQ6;Q96CM8	.;.;ACSF2_HUMAN	G	125;150;125	ENSP00000300441:D125G;ENSP00000401831:D150G;ENSP00000421884:D125G	ENSP00000300441:D125G	D	+	2	0	ACSF2	45893651	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.512000	0.90538	1.998000	0.58463	0.533000	0.62120	GAC	ACSF2	-	pfam_AMP-dep_Synth/Lig	ENSG00000167107		0.607	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	-	0	31	0	A	NM_025149		48538652	1	tier1	-	no_errors	ENST00000300441	ensembl	human	known	74_37	missense	88.24	4	30	SNP	1.000	G	G	48538652	A	G	48538652	3	3	139	1	0	0	0	0	1	0	0	0	175	275	10	4	384	4	ACSF2	17	48538652	Missense_Mutation	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09	3289248	48538652	32656558	141	35583											
ARHGAP28	79822	genome.wustl.edu	37	chr18	6876132	6876132	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatatcattgctttctagttTtttgagaaagttgaggaatc	11	18	8	4	0	2	2	1	2	1	1	3	4	2	3	0	1	1	3	0	1	5	9			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr18:6876132T>G	ENST00000383472.4	+	10	1319	c.1215T>G	c.(1213-1215)ttT>ttG	p.F405L	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.F246L|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.F246L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.F246L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.F353L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.F228L|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.F241L|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.F405L			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	405	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.F405L(1)|p.F246L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTTTCTAGTTTTTTGAGAAAG	0.338																																																	2	Substitution - Missense(2)	large_intestine(2)											125	120	122					18																	6876132		2203	4300	6503	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1215T>G	18.37:g.6876132T>G	ENSP00000372964:p.Phe405Leu		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.F405L	ENST00000383472.4	37	c.1215		18	.	.	.	.	.	.	.	.	.	.	T	5.275	0.236227	0.10023	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	5.74	0.884	0.19182	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.219639	0.44285	D	0.000474	T	0.02193	0.0068	N	0.00224	-1.81	0.29533	N	0.852624	B;B;B;B	0.16603	0.006;0.018;0.003;0.001	B;B;B;B	0.15052	0.005;0.012;0.007;0.001	T	0.35847	-0.9772	10	0.02654	T	1	.	1.7348	0.02939	0.1313:0.328:0.1532:0.3875	.	405;237;246;353	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	L	405;353;246;241;246;246;237;228	ENSP00000382963:F405L;ENSP00000262227:F353L;ENSP00000392660:F246L;ENSP00000437262:F241L;ENSP00000313506:F246L;ENSP00000406907:F246L	ENSP00000262227:F353L	F	+	3	2	ARHGAP28	6866132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.403000	0.20982	0.202000	0.20498	0.459000	0.35465	TTT	ARHGAP28	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000088756		0.338	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3		0	48	0	T	XM_371108		6876132	1			no_errors	ENST00000400091	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.995	G	G	6876132	T	G	6876132	3	3	139	1	0	0	0	0	1	0	0	0	877	1838	64	4	768	4	ARHGAP28	18	6876132	Missense_Mutation	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09		6876132	71201116	142	35584											
PHLPP1	23239	genome.wustl.edu	37	chr18	60527681	60527681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttaggttgcatcccagcGcattagctcagtggacctct	7	12	9	13	1	2	0	1	0	1	0	3	1	3	1	3	2	3	4	3	2	2	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr18:60527681G>A	ENST00000262719.5	+	4	2147	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R126H			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	638					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GCATCCCAGCGCATTAGCTCA	0.403																																																	0													53	51	52					18																	60527681		1945	4149	6094	SO:0001583	missense	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.1913G>A	18.37:g.60527681G>A	ENSP00000262719:p.Arg638His		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.R638H	ENST00000262719.5	37	c.1913	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	36	5.606626	0.96626	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.25250	1.81;1.81	5.65	5.65	0.86999	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	.	.	.	.	T	0.42585	0.1209	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.14952	-1.0454	9	0.62326	D	0.03	-17.205	19.9142	0.97043	0.0:0.0:1.0:0.0	.	638	O60346	PHLP1_HUMAN	H	126;638	ENSP00000383170:R126H;ENSP00000262719:R638H	ENSP00000262719:R638H	R	+	2	0	PHLPP1	58678661	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.178000	0.77657	2.941000	0.99782	0.655000	0.94253	CGC	PHLPP1	-	NULL	ENSG00000081913		0.403	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	-	0	47	0	G	NM_194449		60527681	1	tier1	-	no_errors	ENST00000262719	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	A	A	60527681	G	A	60527681	3	1	139	1	0	0	0	0	1	0	0	0	11893	1087	38	1	1927	1	PHLPP1	18	60527681	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	53651549	60527681	17549567	143	35585											
PARD6G	84552	genome.wustl.edu	37	chr18	77917939	77917939	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tggaagttctgcaggacgcgCggggcggggggacccacgaa	8	4	19	10	5	1	0	0	0	1	0	1	4	1	3	1	7	1	2	1	7	2	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr18:77917939C>T	ENST00000353265.3	-	3	1043	c.846G>A	c.(844-846)ccG>ccA	p.P282P	AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	282					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GCAGGACGCGCGGGGCGGGGG	0.731																																																	0													12	14	13					18																	77917939		2161	4203	6364	SO:0001819	synonymous_variant	0				CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"par-6 (partitioning defective 6, C.elegans) homolog gamma", "par-6 partitioning defective 6 homolog gamma (C. elegans)"			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.846G>A	18.37:g.77917939C>T			A8QM57	Silent	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.P282	ENST00000353265.3	37	c.846	CCDS12022.1	18																																																																																			PARD6G	-	NULL	ENSG00000178184		0.731	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6G	HGNC	protein_coding	OTTHUMT00000256435.2	-	0	29	0	C	NM_032510		77917939	-1	tier1	-	no_errors	ENST00000353265	ensembl	human	known	74_37	silent	41.67	7	5	SNP	0.009	T	T	77917939	C	T	77917939	2	4	139	1	0	0	0	0	0	0	0	1	11486	755	27	1		1	PARD6G	18	77917939	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	17390258	77917939	159309	144	35586											
MBD3	53615	genome.wustl.edu	37	chr19	1578371	1578372	+	In_Frame_Ins	INS	-	-	CTC																															atctccgggtccgggtcgggINSctcctcctcctcctcctcct																								rs371220154		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:1578371_1578372insCTC	ENST00000434436.3	-	6	972_973	c.843_844insGAG	c.(841-846)gagccc>gagGAGccc	p.281_282insE	MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_In_Frame_Ins_p.249_250insE|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000590550.2_In_Frame_Ins_p.225_226insE|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000156825.1_In_Frame_Ins_p.281_282insE	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGGGTCGGGctcctcctcct	0.713																																																	0																																										SO:0001652	inframe_insertion	0			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.841_843dupGAG	19.37:g.1578378_1578380dupCTC	ENSP00000412302:p.Glu281_Glu281dup		A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Ins	INS	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.281in_frame_insE	ENST00000434436.3	37	c.844_843	CCDS12072.1	19																																																																																			MBD3	-	superfamily_ARM-type_fold	ENSG00000071655		0.713	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2		0	22	0	-	NM_003926		1578372	-1	tier1		no_errors	ENST00000156825	ensembl	human	known	74_37	in_frame_ins	25.81	23	8	INS	0.893:0.902	CTC	CTC	1578372	-	CTC	1578371	7	5	139	1	0	1	1	0	0	0	0	0	9382	1203	42	0	35	0	MBD3	19	1578371	In_Frame_Ins	INS	-	TCGA-R6-A6DN-01B-11D-A31U-09		1578371	57550612	145	35587											
SCAMP4	113178	genome.wustl.edu	37	chr19	1923186	1923186	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggccatcgcgatcatgaaGgtgagtcctcggctttgtga	8	11	13	9	3	1	3	1	3	0	0	4	4	2	3	2	3	0	1	2	3	1	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:1923186G>T	ENST00000316097.8	+	6	780	c.513G>T	c.(511-513)aaG>aaT	p.K171N	SCAMP4_ENST00000409472.1_Splice_Site_p.K137N|SCAMP4_ENST00000414057.2_3'UTR	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	171					protein transport (GO:0015031)	integral component of membrane (GO:0016021)							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)		CGATCATGAAGGTGAGTCCTC	0.602																																																	0													42	44	44					19																	1923186		2034	3966	6000	SO:0001630	splice_region_variant	0			AK091166	CCDS45903.1	19p13.3	2013-02-21			ENSG00000227500	ENSG00000227500		"Secretory carrier membrane proteins"	30385	protein-coding gene	gene with protein product		613764					Standard	NM_079834		Approved	FLJ33847	uc002luj.4	Q969E2	OTTHUMG00000154590	ENST00000316097.8:c.513+1G>T	19.37:g.1923186G>T			Q8N2N1|Q8NAV0	Missense_Mutation	SNP	pfam_SCAMP	p.K171N	ENST00000316097.8	37	c.513	CCDS45903.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.5|24.5	4.541566|4.541566	0.85917|0.85917	.|.	.|.	ENSG00000227500|ENSG00000227500	ENST00000316097;ENST00000409472|ENST00000414057	T;T|.	0.19394|.	2.15;2.15|.	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	.|.	.|.	.|.	.|.	T|T	0.77505|0.77505	0.4140|0.4140	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	P;D|.	0.53151|.	0.907;0.958|.	P;P|.	0.60473|.	0.733;0.875|.	T|T	0.79376|0.79376	-0.1829|-0.1829	9|5	0.66056|.	D|.	0.02|.	-15.1836|-15.1836	17.1307|17.1307	0.86725|0.86725	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137;171|.	Q969E2-2;Q969E2|.	.;SCAM4_HUMAN|.	N|M	171;137|181	ENSP00000316007:K171N;ENSP00000386865:K137N|.	ENSP00000316007:K171N|.	K|R	+|+	3|2	2|0	SCAMP4|SCAMP4	1874186|1874186	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.562000|0.562000	0.35680|0.35680	7.798000|7.798000	0.85924|0.85924	2.269000|2.269000	0.75478|0.75478	0.650000|0.650000	0.86243|0.86243	AAG|AGG	SCAMP4	-	pfam_SCAMP	ENSG00000227500		0.602	SCAMP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP4	HGNC	protein_coding	OTTHUMT00000336210.3	-	0	38	0	G	NM_079834	Missense_Mutation	1923186	1	tier1	-	no_errors	ENST00000316097	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T	T	1923186	G	T	1923186	5	4	139	1	0	0	0	0	0	0	1	0	13918	1014	35	3	531	3	SCAMP4	19	1923186	Splice_Site	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	344815	1923186	57205797	146	35588											
GADD45B	4616	genome.wustl.edu	37	chr19	2477067	2477069	+	In_Frame_Del	DEL	GAG	GAG	-																															tctgcctcttggccattgacGaggaggaggaggatgacatc																								rs374601376		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:2477067_2477069delGAG	ENST00000215631.4	+	3	419_421	c.187_189delGAG	c.(187-189)gagdel	p.E66del	GADD45B_ENST00000587345.1_In_Frame_Del_p.E66del	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	66					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)		GGCCATTGACGAGGAGGAGGAGG	0.626											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0										133,4131		63,7,2062						-3.5	0.7			73	573,7681		277,19,3831	no	coding	GADD45B	NM_015675.3		340,26,5893	A1A1,A1R,RR		6.9421,3.1191,5.6399				706,11812				SO:0001651	inframe_deletion	0			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.187_189delGAG	19.37:g.2477076_2477078delGAG	ENSP00000215631:p.Glu66del	603	A8KAM2|O75960|Q17R46	In_Frame_Del	DEL	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.E66in_frame_del	ENST00000215631.4	37	c.187_189	CCDS32868.1	19																																																																																			GADD45B	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	ENSG00000099860		0.626	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADD45B	HGNC	protein_coding	OTTHUMT00000451337.1		0	39	0	GAG	NM_015675		2477069	1	tier1		no_errors	ENST00000215631	ensembl	human	known	74_37	in_frame_del	16.67	10	2	DEL	1.000:1.000:1.000	-	-	2477069	GAG	-	2477067	7	5	139	1	0	1	0	1	0	0	0	0	6206	1059	37	0	197	0	GADD45B	19	2477067	In_Frame_Del	DEL	GAG	TCGA-R6-A6DN-01B-11D-A31U-09	553881	2477067	56651916	147	35589											
ZFR2	23217	genome.wustl.edu	37	chr19	3810816	3810816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	caggaccctgatgacgatcaCgcatggctgcaggccgctgg	8	6	14	13	3	1	2	1	2	0	0	1	4	1	3	2	4	1	4	2	4	0	0			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:3810816C>T	ENST00000262961.4	-	16	2375	c.2365G>A	c.(2365-2367)Gtg>Atg	p.V789M		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	789	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)		ATGACGATCACGCATGGCTGC	0.701																																																	0													5	7	6					19																	3810816		1803	3673	5476	SO:0001583	missense	0			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.2365G>A	19.37:g.3810816C>T	ENSP00000262961:p.Val789Met			Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.V789M	ENST00000262961.4	37	c.2365	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630841	0.46944	.	.	ENSG00000105278	ENST00000262961	T	0.46063	0.88	3.56	3.56	0.40772	DZF (2);	0.000000	0.64402	U	0.000020	T	0.66036	0.2749	M	0.90019	3.08	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.75258	-0.3381	10	0.87932	D	0	-24.4075	13.0362	0.58873	0.0:1.0:0.0:0.0	.	789	Q9UPR6	ZFR2_HUMAN	M	789	ENSP00000262961:V789M	ENSP00000262961:V789M	V	-	1	0	ZFR2	3761816	1.000000	0.71417	0.008000	0.14137	0.009000	0.06853	6.272000	0.72575	1.972000	0.57404	0.561000	0.74099	GTG	ZFR2	-	pfam_DZF,smart_DZF	ENSG00000105278		0.701	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	-	0	80	0	C	NM_015174		3810816	-1	tier1	-	no_errors	ENST00000262961	ensembl	human	known	74_37	missense	29.51	43	18	SNP	0.991	T	T	3810816	C	T	3810816	3	4	139	1	0	0	0	0	1	0	0	0	17708	536	19	1	470	1	ZFR2	19	3810816	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	1333749	3810816	55318167	148	35590											
KDM4B	23030	genome.wustl.edu	37	chr19	5132015	5132015	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaggcctcaagtgacGagggtgagtggggggtcccc	8	5	19	9	1	1	2	1	2	0	0	2	4	2	3	3	6	1	1	3	6	1	0			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:5132015G>T	ENST00000159111.4	+	13	2121	c.1903G>T	c.(1903-1905)Gag>Tag	p.E635*	KDM4B_ENST00000536461.1_Nonsense_Mutation_p.E669*	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	635					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						CTCAAGTGACGAGGGTGAGTG	0.692																																																	0													19	25	23					19																	5132015		2192	4289	6481	SO:0001587	stop_gained	0			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.1903G>T	19.37:g.5132015G>T	ENSP00000159111:p.Glu635*		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E635*	ENST00000159111.4	37	c.1903	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.495731	0.98319	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	.	.	.	4.12	4.12	0.48240	.	0.393322	0.28515	N	0.015061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.101	16.3774	0.83410	0.0:0.0:1.0:0.0	.	.	.	.	X	635;669	.	ENSP00000159111:E635X	E	+	1	0	KDM4B	5083015	1.000000	0.71417	0.927000	0.36925	0.769000	0.43574	6.079000	0.71291	1.854000	0.53819	0.561000	0.74099	GAG	KDM4B	-	NULL	ENSG00000127663		0.692	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1		0	24	0	G	NM_015015		5132015	1			no_errors	ENST00000159111	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	1.000	T	T	5132015	G	T	5132015	4	4	139	1	0	0	0	0	0	1	0	0	8156	1059	37	2	1945	2	KDM4B	19	5132015	Nonsense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	1321199	5132015	53996968	149	35591											
MUC16	94025	genome.wustl.edu	37	chr19	9070673	9070673	+	Silent	SNP	T	T	A	0	1	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	gacacggttgaatgagtcccTccctggaaaagtgtggttga	10	10	13	8	1	0	3	0	3	0	0	2	5	2	4	2	3	0	2	2	3	3	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:9070673T>A	ENST00000397910.4	-	3	16976	c.16773A>T	c.(16771-16773)ggA>ggT	p.G5591G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5593	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						AATGAGTCCCTCCCTGGAAAA	0.517																																																	0													153	142	145					19																	9070673		1981	4160	6141	SO:0001819	synonymous_variant	0			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.16773A>T	19.37:g.9070673T>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.G5591	ENST00000397910.4	37	c.16773	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	83	0	T	NM_024690		9070673	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	20.59	27	7	SNP	0.001	A	A	9070673	T	A	9070673	2	1	139	1	0	0	0	0	0	0	0	1	10011	1538	54	5		5	MUC16	19	9070673	Silent	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09	3938658	9070673	50058310	150	35592											
ICAM1	3383	genome.wustl.edu	37	chr19	10385492	10385492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaagtcatcctgccccGgggaggctccgtgctggtga	7	8	13	13	2	2	1	2	1	0	0	4	2	4	2	4	4	2	2	4	4	2	0			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:10385492G>A	ENST00000264832.3	+	2	444	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	40					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)	ATCCTGCCCCGGGGAGGCTCC	0.567																																																	0													67	66	66					19																	10385492		2203	4300	6503	SO:0001583	missense	0				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.119G>A	19.37:g.10385492G>A	ENSP00000264832:p.Arg40Gln		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM	p.R40Q	ENST00000264832.3	37	c.119	CCDS12231.1	19	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028452	0.35797	.	.	ENSG00000090339	ENST00000264832	T	0.31247	1.5	4.56	-1.88	0.07713	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.845085	0.10212	N	0.702004	T	0.16981	0.0408	L	0.49350	1.555	0.09310	N	1	P	0.41524	0.753	B	0.28139	0.086	T	0.19976	-1.0289	10	0.23891	T	0.37	-2.8636	4.3762	0.11272	0.2812:0.3157:0.4031:0.0	.	40	P05362	ICAM1_HUMAN	Q	40	ENSP00000264832:R40Q	ENSP00000264832:R40Q	R	+	2	0	ICAM1	10246492	0.000000	0.05858	0.002000	0.10522	0.142000	0.21351	-0.693000	0.05121	0.007000	0.14760	0.655000	0.94253	CGG	ICAM1	-	pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N	ENSG00000090339		0.567	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM1	HGNC	protein_coding	OTTHUMT00000451207.1	-	0	38	0	G			10385492	1	tier1	-	no_errors	ENST00000264832	ensembl	human	known	74_37	missense	25.53	35	12	SNP	0.000	A	A	10385492	G	A	10385492	3	1	139	1	0	0	0	0	1	0	0	0	7506	1116	39	1	125	1	ICAM1	19	10385492	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	1314819	10385492	48743491	151	35593											
RAVER1	112812	genome.wustl.edu	37	chr19	10429038	10429038	+	5'Flank	DEL	G	G	-																															gttcgccgaagccactgggcGggggggacatctgtagaaga																								rs550451618		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:10429038delG	ENST00000393708.3	-	0	0				FDX1L_ENST00000494368.1_5'Flank|CTD-2369P2.10_ENST00000452032.2_5'Flank|FDX1L_ENST00000541276.1_5'Flank|CTD-2369P2.12_ENST00000586529.1_Frame_Shift_Del_p.P38fs|RAVER1_ENST00000293677.6_Frame_Shift_Del_p.P637fs|FDX1L_ENST00000492239.1_5'Flank	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like						oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GCCACTGGGCGGGGGGGACAT	0.607																																																	0													8	11	10					19																	10429038		1922	4094	6016	SO:0001631	upstream_gene_variant	0			AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299		19.37:g.10429038delG	Exception_encountered		Q8N8B8	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P636fs	ENST00000393708.3	37	c.1907	CCDS32905.1	19																																																																																			RAVER1	-	NULL	ENSG00000161847		0.607	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000280567.2		0	125	0	G			10429038	-1	tier1		no_errors	ENST00000293677	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.986	-	-	10429038	G	-	10429038	6	5	139	0	1	1	0	1	0	0	0	0	13139	1116	39	0		0	RAVER1	19	10429038	5'Flank	DEL	G	TCGA-R6-A6DN-01B-11D-A31U-09	43546	10429038	48699945	152	35594											
JAK3	3718	genome.wustl.edu	37	chr19	17955112	17955112	+	Frame_Shift_Del	DEL	G	G	-																															aaaggagaaagataggcgctGggggggcccggggccccgag																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:17955112delG	ENST00000527670.1	-	1	144	c.115delC	c.(115-117)cagfs	p.Q39fs	JAK3_ENST00000534444.1_Frame_Shift_Del_p.Q39fs|JAK3_ENST00000458235.1_Frame_Shift_Del_p.Q39fs|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	39	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Q39fs*108(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GATAGGCGCTGGGGGGGCCCG	0.662		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	1	Deletion - Frameshift(1)	large_intestine(1)											13	15	14					19																	17955112		2197	4293	6490	SO:0001589	frameshift_variant	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.115delC	19.37:g.17955112delG	ENSP00000432511:p.Gln39fs		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q39fs	ENST00000527670.1	37	c.115	CCDS12366.1	19																																																																																			JAK3	-	smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain	ENSG00000105639		0.662	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1		0	53	0	G	NM_000215		17955112	-1	tier1		no_errors	ENST00000458235	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	0.212	-	-	17955112	G	-	17955112	7	5	139	1	0	1	0	1	0	0	0	0	7966	1357	47	0	3351	0	JAK3	19	17955112	Frame_Shift_Del	DEL	G	TCGA-R6-A6DN-01B-11D-A31U-09	7526074	17955112	41173871	153	35595											
LOC729991-MEF2B	100271849	genome.wustl.edu	37	chr19	19261545	19261545	+	5'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggatttttttcctccccatCgtcccaggctgagtggaatg	6	14	10	11	1	0	1	0	1	0	0	4	3	3	3	4	3	0	1	4	3	1	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:19261545C>T	ENST00000602424.2	-	0	726				MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.T17T|MEF2B_ENST00000424583.2_5'UTR|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000162023.5_5'UTR|MEF2B_ENST00000409447.2_5'UTR|MEF2B_ENST00000410050.1_5'UTR|MEF2B_ENST00000409224.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_5'UTR	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B						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)			TCCTCCCCATCGTCCCAGGCT	0.557																																																	0													177	135	149					19																	19261545		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			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.-1G>A	19.37:g.19261545C>T			A0AV80|B4DVH7|B7ZVY1|G5E9M1	Silent	SNP	pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.T17	ENST00000602424.2	37	c.51	CCDS12394.1	19																																																																																			MEF2BNB-MEF2B	-	NULL	ENSG00000064489		0.557	MEF2B-202	KNOWN	basic|CCDS	protein_coding	MEF2BNB-MEF2B	HGNC	protein_coding		-	0	42	0	C	NM_005919		19261545	-1	tier1	-	no_errors	ENST00000514819	ensembl	human	putative	74_37	silent	44.83	16	13	SNP	0.012	T	T	19261545	C	T	19261545	1	4	139	0	1	0	0	0	0	0	0	0	8924	899	31	1		1	LOC729991-MEF2B	19	19261545	5'UTR	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	1306433	19261545	39867438	154	35596											
ZNF99	7652	genome.wustl.edu	37	chr19	22941476	22941476	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattaccttatgtacagtaAgttttgaggaccacttaaaa	15	13	7	6	0	0	1	0	1	0	0	0	3	0	2	2	1	2	3	2	1	7	7			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:22941476A>C	ENST00000596209.1	-	4	1325	c.1235T>G	c.(1234-1236)cTt>cGt	p.L412R	ZNF99_ENST00000397104.3_Missense_Mutation_p.L321R	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGTACAGTAAGTTTTGAGGA	0.368																																																	0													45	47	46					19																	22941476		1997	4201	6198	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1235T>G	19.37:g.22941476A>C	ENSP00000472969:p.Leu412Arg		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L321R	ENST00000596209.1	37	c.962	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	N	10.86	1.469867	0.26423	.	.	ENSG00000213973	ENST00000397104	T	0.26373	1.74	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51160	0.1658	M	0.88775	2.98	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.28396	-1.0045	9	0.72032	D	0.01	.	5.9847	0.19428	1.0:0.0:0.0:0.0	.	321	A8MXY4	ZNF99_HUMAN	R	321	ENSP00000380293:L321R	ENSP00000380293:L321R	L	-	2	0	ZNF99	22733316	0.050000	0.20438	0.001000	0.08648	0.003000	0.03518	3.552000	0.53705	0.566000	0.29273	0.325000	0.21440	CTT	ZNF99	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0	94	0	A	XM_065124		22941476	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	33.96	35	18	SNP	0.003	C	C	22941476	A	C	22941476	3	2	139	1	0	0	0	0	1	0	0	0	18252	72	3	4	2162	4	ZNF99	19	22941476	Missense_Mutation	SNP	A	TCGA-R6-A6DN-01B-11D-A31U-09	3679931	22941476	36187507	155	35597											
TSHZ3	57616	genome.wustl.edu	37	chr19	31768451	31768451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgttgctcatcttgaaaaGcatgctcatggggtccaggg	8	11	13	9	0	3	1	2	1	1	0	4	1	4	1	1	3	3	5	1	3	2	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:31768451G>T	ENST00000240587.4	-	2	2575	c.2248C>A	c.(2248-2250)Ctt>Att	p.L750I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	750					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)					ATCTTGAAAAGCATGCTCATG	0.602																																																	0													61	62	62					19																	31768451		2203	4300	6503	SO:0001583	missense	0			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.2248C>A	19.37:g.31768451G>T	ENSP00000240587:p.Leu750Ile		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L750I	ENST00000240587.4	37	c.2248	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784094	0.70222	.	.	ENSG00000121297	ENST00000240587	T	0.59906	0.23	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	M	0.71036	2.16	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.76913	-0.2783	10	0.54805	T	0.06	-13.4671	19.1085	0.93307	0.0:0.0:1.0:0.0	.	750	Q63HK5	TSH3_HUMAN	I	750	ENSP00000240587:L750I	ENSP00000240587:L750I	L	-	1	0	TSHZ3	36460291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.316000	0.72857	2.501000	0.84356	0.655000	0.94253	CTT	TSHZ3	-	NULL	ENSG00000121297		0.602	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0	32	0	G	NM_020856		31768451	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	missense	20.83	18	5	SNP	1.000	T	T	31768451	G	T	31768451	3	4	139	1	0	0	0	0	1	0	0	0	16673	971	34	3	1001	3	TSHZ3	19	31768451	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	8826975	31768451	27360532	156	35598											
MBOAT7	79143	genome.wustl.edu	37	chr19	54687561	54687561	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcactggccaggctcacCagctgggcagaagggggtgg	8	6	16	11	0	2	1	2	0	0	1	2	1	2	1	2	6	1	3	2	6	1	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:54687561C>T	ENST00000245615.1	-	5	816	c.336G>A	c.(334-336)ctG>ctA	p.L112L	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000391754.1_Silent_p.L112L|MBOAT7_ENST00000338624.6_Silent_p.L39L|MBOAT7_ENST00000431666.2_Silent_p.L39L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	112					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)					CCAGGCTCACCAGCTGGGCAG	0.682																																					NSCLC(97;826 2151 10470 22540)												0													25	26	26					19																	54687561		2203	4300	6503	SO:0001819	synonymous_variant	0			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.336G>A	19.37:g.54687561C>T			A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Nonsense_Mutation	SNP	NULL	p.W70*	ENST00000245615.1	37	c.209	CCDS12883.1	19																																																																																			MBOAT7	-	NULL	ENSG00000125505		0.682	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1	-	0	37	0	C	NM_024298		54687561	-1	tier1	-	no_errors	ENST00000437868	ensembl	human	known	74_37	nonsense	34.78	15	8	SNP	1.000	T	T	54687561	C	T	54687561	2	4	139	1	0	0	0	0	0	0	0	1	9396	581	21	3		3	MBOAT7	19	54687561	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	22919110	54687561	4441422	157	35599											
ZNF329	79673	genome.wustl.edu	37	chr19	58639316	58639316	+	Frame_Shift_Del	DEL	T	T	-																															ggatgagctcttttggaacaTttttccacactgaggacacc																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:58639316delT	ENST00000598312.1	-	4	1788	c.1555delA	c.(1555-1557)atgfs	p.M519fs	ZNF329_ENST00000358067.4_Frame_Shift_Del_p.M519fs	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	519					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)		TTTTGGAACATTTTTCCACAC	0.512																																																	0													183	167	172					19																	58639316		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1555delA	19.37:g.58639316delT	ENSP00000470008:p.Met519fs		B3KR32|Q9H9R7	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M519fs	ENST00000598312.1	37	c.1555	CCDS12972.1	19																																																																																			ZNF329	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181894		0.512	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF329	HGNC	protein_coding	OTTHUMT00000466724.1		0	51	0	T	NM_024620		58639316	-1	tier1		no_errors	ENST00000358067	ensembl	human	known	74_37	frame_shift_del	6.52	43	3	DEL	0.013	-	-	58639316	T	-	58639316	7	5	139	1	0	1	0	1	0	0	0	0	17895	1493	52	0	74	0	ZNF329	19	58639316	Frame_Shift_Del	DEL	T	TCGA-R6-A6DN-01B-11D-A31U-09	3951755	58639316	489667	158	35600											
CPXM1	56265	genome.wustl.edu	37	chr20	2774891	2774891	+	Frame_Shift_Del	DEL	T	T	-																															tgcgaaggtccgggggcaccTtggccccagctgccagcagc																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:2774891delT	ENST00000380605.2	-	14	2214	c.2150delA	c.(2149-2151)aagfs	p.K717fs		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	717					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						CGGGGGCACCTTGGCCCCAGC	0.617																																																	0													38	42	41					20																	2774891		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2150delA	20.37:g.2774891delT	ENSP00000369979:p.Lys717fs		Q6P4G8|Q6UW65|Q9NUB5	Frame_Shift_Del	DEL	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.K717fs	ENST00000380605.2	37	c.2150	CCDS13033.1	20																																																																																			CPXM1	-	superfamily_CarboxyPept-like_regulatory	ENSG00000088882		0.617	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2		0	32	0	T	NM_019609		2774891	-1	tier1		no_errors	ENST00000380605	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	0.952	-	-	2774891	T	-	2774891	7	5	139	1	0	1	0	1	0	0	0	0	3844	1609	56	0	58	0	CPXM1	20	2774891	Frame_Shift_Del	DEL	T	TCGA-R6-A6DN-01B-11D-A31U-09		2774891	60250629	159	35601											
PROKR2	128674	genome.wustl.edu	37	chr20	5283203	5283203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtagagctgctgatccacaGgccagatctggccacagaag	12	6	12	11	0	1	4	0	1	1	3	2	4	2	4	3	2	2	3	3	2	2	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:5283203G>T	ENST00000217270.3	-	2	637	c.638C>A	c.(637-639)cCt>cAt	p.P213H	PROKR2_ENST00000546004.1_Missense_Mutation_p.P213H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	213					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.P213H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGATCCACAGGCCAGATCTG	0.512										HNSCC(71;0.22)																																							1	Substitution - Missense(1)	lung(1)											142	133	136					20																	5283203		2203	4300	6503	SO:0001583	missense	0			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.638C>A	20.37:g.5283203G>T	ENSP00000217270:p.Pro213His		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.P213H	ENST00000217270.3	37	c.638	CCDS13089.1	20	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729810	0.69074	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.39056	1.1;1.1	5.31	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.206514	0.51477	D	0.000083	T	0.66694	0.2815	M	0.86953	2.85	0.43334	D	0.995378	D	0.63880	0.993	D	0.66084	0.941	T	0.73701	-0.3900	10	0.87932	D	0	.	13.6244	0.62155	0.0:0.1566:0.8434:0.0	.	213	Q8NFJ6	PKR2_HUMAN	H	213	ENSP00000440790:P213H;ENSP00000217270:P213H	ENSP00000217270:P213H	P	-	2	0	PROKR2	5231203	1.000000	0.71417	0.797000	0.32132	0.992000	0.81027	9.294000	0.96088	1.210000	0.43336	0.655000	0.94253	CCT	PROKR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000101292		0.512	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1		0	60	0	G	NM_144773		5283203	-1			no_errors	ENST00000217270	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.997	T	T	5283203	G	T	5283203	3	4	139	1	0	0	0	0	1	0	0	0	12595	1000	35	3	519	3	PROKR2	20	5283203	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	2508312	5283203	57742317	160	35602											
PAK7	57144	genome.wustl.edu	37	chr20	9523256	9523256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtaggtccttcactcttgGaggtaaactgtcccggatcc	7	12	11	11	1	2	0	1	0	1	0	5	2	5	2	3	4	1	2	3	4	3	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:9523256G>T	ENST00000378429.3	-	10	2527	c.1981C>A	c.(1981-1983)Cca>Aca	p.P661T	PAK7_ENST00000378423.1_Missense_Mutation_p.P661T|PAK7_ENST00000353224.5_Missense_Mutation_p.P661T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	661	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTCACTCTTGGAGGTAAACTG	0.493																																																	0													153	154	153					20																	9523256		2203	4300	6503	SO:0001583	missense	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1981C>A	20.37:g.9523256G>T	ENSP00000367686:p.Pro661Thr		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.P661T	ENST00000378429.3	37	c.1981	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981325	0.93044	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	T;T;T	0.64618	-0.11;-0.11;-0.11	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77219	0.4098	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75300	-0.3366	9	.	.	.	.	19.3557	0.94412	0.0:0.0:1.0:0.0	.	661	Q9P286	PAK7_HUMAN	T	661	ENSP00000367686:P661T;ENSP00000322957:P661T;ENSP00000367679:P661T	.	P	-	1	0	PAK7	9471256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.003000	0.88520	2.597000	0.87782	0.655000	0.94253	CCA	PAK7	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000101349		0.493	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	-	0	30	0	G			9523256	-1	tier1	-	no_errors	ENST00000353224	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	T	T	9523256	G	T	9523256	3	4	139	1	0	0	0	0	1	0	0	0	11444	1174	41	3	186	3	PAK7	20	9523256	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	4240053	9523256	53502264	161	35603											
PAX1	5075	genome.wustl.edu	37	chr20	21689953	21689953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtacagcgccccgggcggcGgctacctcgccccgggcccg	3	4	15	19	7	0	0	0	0	0	0	1	0	0	0	6	4	3	2	6	4	2	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:21689953G>A	ENST00000398485.2	+	4	1207	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.G361S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	385					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						CCCGGGCGGCGGCTACCTCGC	0.771																																																	0													17	23	21					20																	21689953		2121	4173	6294	SO:0001583	missense	0				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.1153G>A	20.37:g.21689953G>A	ENSP00000381499:p.Gly385Ser		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.G385S	ENST00000398485.2	37	c.1153	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555573	0.86231	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98474	-4.53;-4.95	5.66	3.47	0.39725	.	.	.	.	.	D	0.95452	0.8523	L	0.60455	1.87	0.42996	D	0.994504	P;B;B	0.37038	0.579;0.083;0.349	B;B;B	0.27170	0.077;0.009;0.019	D	0.92372	0.5906	9	0.38643	T	0.18	.	9.1632	0.37035	0.2663:0.0:0.7337:0.0	.	361;291;385	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	S	385;361	ENSP00000381499:G385S;ENSP00000410355:G361S	ENSP00000381499:G385S	G	+	1	0	PAX1	21637953	0.965000	0.33210	0.998000	0.56505	0.693000	0.40251	1.624000	0.37018	0.558000	0.29135	0.462000	0.41574	GGC	PAX1	-	NULL	ENSG00000125813		0.771	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0	24	0	G			21689953	1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	missense	47.62	11	10	SNP	1.000	A	A	21689953	G	A	21689953	3	1	139	1	0	0	0	0	1	0	0	0	11517	1116	39	1	1167	1	PAX1	20	21689953	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	12166697	21689953	41335567	162	35604											
KCNB1	3745	genome.wustl.edu	37	chr20	47991256	47991256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcacgctcttgttggattCggtgaggaaaatggtgacat	10	11	13	7	2	1	2	0	2	1	0	2	4	1	4	0	4	1	3	0	4	2	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:47991256C>T	ENST00000371741.4	-	2	1007	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	281					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)	TTGTTGGATTCGGTGAGGAAA	0.522																																																	0													88	82	84					20																	47991256		2203	4300	6503	SO:0001583	missense	0			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.841G>A	20.37:g.47991256C>T	ENSP00000360806:p.Glu281Lys		Q14193	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.E281K	ENST00000371741.4	37	c.841	CCDS13418.1	20	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464518	0.84425	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.98585	-5.01	6.01	6.01	0.97437	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97532	0.9192	M	0.64170	1.965	0.80722	D	1	P	0.52316	0.952	P	0.45681	0.49	D	0.96984	0.9717	10	0.36615	T	0.2	.	19.0992	0.93266	0.0:1.0:0.0:0.0	.	281	Q14721	KCNB1_HUMAN	K	281;236	ENSP00000360806:E281K	ENSP00000360806:E281K	E	-	1	0	KCNB1	47424663	1.000000	0.71417	0.669000	0.29828	0.996000	0.88848	7.818000	0.86416	2.861000	0.98227	0.650000	0.86243	GAA	KCNB1	-	pfam_Ion_trans_dom	ENSG00000158445		0.522	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	-	0	42	0	C	NM_004975		47991256	-1	tier1	-	no_errors	ENST00000371741	ensembl	human	known	74_37	missense	18.42	31	7	SNP	0.998	T	T	47991256	C	T	47991256	3	4	139	1	0	0	0	0	1	0	0	0	8039	893	31	1	1739	1	KCNB1	20	47991256	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	26301303	47991256	15034264	163	35605											
SRMS	6725	genome.wustl.edu	37	chr20	62172297	62172297	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgccgggcaggcagccggGcgcggcagccggtaccctcg	4	3	17	17	7	0	0	0	0	0	0	2	0	1	0	5	5	3	4	5	5	1	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:62172297G>C	ENST00000217188.1	-	8	1381	c.1341C>G	c.(1339-1341)cgC>cgG	p.R447R		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	447	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGGCAGCCGGGCGCGGCAGCC	0.697																																																	0													49	56	54					20																	62172297		2196	4287	6483	SO:0001819	synonymous_variant	0				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.1341C>G	20.37:g.62172297G>C				Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R447	ENST00000217188.1	37	c.1341	CCDS13525.1	20																																																																																			SRMS	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000125508		0.697	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SRMS	HGNC	protein_coding	OTTHUMT00000080148.1	-	0	10	0	G	NM_080823		62172297	-1	tier1	-	no_errors	ENST00000217188	ensembl	human	known	74_37	silent	50.00	15	15	SNP	0.896	C	C	62172297	G	C	62172297	2	2	139	1	0	0	0	0	0	0	0	1	15199	1190	42	5		5	SRMS	20	62172297	Silent	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	14181041	62172297	853223	164	35606											
AGPAT3	56894	genome.wustl.edu	37	chr21	45401010	45401010	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ctcttcagttttgtcttgggCgtctttgccagcggatcacc	4	15	10	12	2	5	0	2	0	3	0	5	1	5	1	2	2	2	1	2	2	0	5	rs368771018		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr21:45401010C>T	ENST00000398063.2	+	8	1476	c.984C>T	c.(982-984)ggC>ggT	p.G328G	AGPAT3_ENST00000327505.2_Silent_p.G328G|AGPAT3_ENST00000398061.1_Silent_p.G328G|AGPAT3_ENST00000291572.8_Silent_p.G328G|AGPAT3_ENST00000546158.1_Silent_p.G328G|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.G328G	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	328					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|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 (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TTGTCTTGGGCGTCTTTGCCA	0.577																																					Pancreas(60;623 1650 5574 52796)												0								C	,	0,4406		0,0,2203	133	116	121		984,984	-6.9	0.8	21		121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AGPAT3	NM_001037553.1,NM_020132.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	328/377,328/377	45401010	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.984C>T	21.37:g.45401010C>T			D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.G328	ENST00000398063.2	37	c.984	CCDS13703.1	21																																																																																			AGPAT3	-	NULL	ENSG00000160216		0.577	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGPAT3	HGNC	protein_coding	OTTHUMT00000195722.1		0	44	0	C	NM_020132		45401010	1			no_errors	ENST00000291572	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.032	T	T	45401010	C	T	45401010	2	4	139	1	0	0	0	0	0	0	0	1	388	755	27	1		1	AGPAT3	21	45401010	Silent	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09		45401010	2728885	165	35607											
MYO18B	84700	genome.wustl.edu	37	chr22	26224867	26224867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgtgccacaactacGcccatgagcgcctgcagctg	9	6	12	14	2	0	1	0	1	0	0	0	2	0	2	3	1	7	3	3	1	2	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:26224867G>A	ENST00000407587.2	+	15	3080	c.2911G>A	c.(2911-2913)Gcc>Acc	p.A971T	MYO18B_ENST00000335473.7_Missense_Mutation_p.A971T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A971T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	971	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACAACTACGCCCATGAGCG	0.617																																																	0													75	82	80					22																	26224867		2066	4207	6273	SO:0001583	missense	0			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.2911G>A	22.37:g.26224867G>A	ENSP00000386096:p.Ala971Thr		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A971T	ENST00000407587.2	37	c.2911		22	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.451424	0.01080	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.72725	-0.68;-0.68;-0.68	4.69	-3.17	0.05202	Myosin head, motor domain (2);	1.018460	0.07830	N	0.961185	T	0.54791	0.1880	L	0.43554	1.36	0.09310	N	1	B;B;B;B	0.17852	0.002;0.024;0.007;0.02	B;B;B;B	0.14023	0.001;0.01;0.003;0.006	T	0.47497	-0.9113	10	0.02654	T	1	.	10.3005	0.43650	0.4607:0.0:0.5393:0.0	.	484;971;971;971	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	971	ENSP00000441229:A971T;ENSP00000334563:A971T;ENSP00000386096:A971T	ENSP00000334563:A971T	A	+	1	0	MYO18B	24554867	0.000000	0.05858	0.000000	0.03702	0.347000	0.29111	-0.327000	0.07955	-0.690000	0.05142	-2.152000	0.00332	GCC	MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.617	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	23	0	G	NM_032608		26224867	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	69.57	13	32	SNP	0.000	A	A	26224867	G	A	26224867	3	1	139	1	0	0	0	0	1	0	0	0	10104	1087	38	1	2965	1	MYO18B	22	26224867	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09		26224867	25079699	166	35608											
RFPL3	10738	genome.wustl.edu	37	chr22	32754182	32754182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcaagcagctgtcccGtctgctcagactatctggaa	12	8	10	11	1	3	2	1	0	2	2	4	3	4	3	1	1	4	4	1	1	5	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:32754182G>A	ENST00000249007.4	+	1	329	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Missense_Mutation_p.V13I|RFPL3_ENST00000397468.1_Missense_Mutation_p.V13I	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	42							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CAGCTGTCCCGTCTGCTCAGA	0.517																																																	0													88	88	88					22																	32754182		2203	4298	6501	SO:0001583	missense	0			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.124G>A	22.37:g.32754182G>A	ENSP00000249007:p.Val42Ile		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.V42I	ENST00000249007.4	37	c.124	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.438668	0.01098	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.10763	2.84;2.84;2.84	0.851	-1.7	0.08159	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	.	.	.	.	T	0.03477	0.0100	N	0.05351	-0.065	0.19575	N	0.999966	B	0.32324	0.364	B	0.26416	0.069	T	0.42816	-0.9429	9	0.09843	T	0.71	.	4.4715	0.11715	0.4695:0.0:0.5305:0.0	.	42	O75679	RFPL3_HUMAN	I	13;42;13	ENSP00000380609:V13I;ENSP00000249007:V42I;ENSP00000371520:V13I	ENSP00000249007:V42I	V	+	1	0	RFPL3	31084182	0.603000	0.26924	0.010000	0.14722	0.252000	0.25951	-0.047000	0.11963	-0.866000	0.04068	-1.050000	0.02344	GTC	RFPL3	-	pfscan_Znf_RING	ENSG00000128276		0.517	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	HGNC	protein_coding	OTTHUMT00000075172.3	-	0	111	0	G	NM_006604		32754182	1	tier1	-	no_errors	ENST00000249007	ensembl	human	known	74_37	missense	66.00	17	33	SNP	0.913	A	A	32754182	G	A	32754182	3	1	139	1	0	0	0	0	1	0	0	0	13300	1145	40	1	126	1	RFPL3	22	32754182	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	6529315	32754182	18550384	167	35609											
CSF2RB	1439	genome.wustl.edu	37	chr22	37334389	37334389	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccccgggacccggtcctGagatcaagaacctagaccag	10	6	10	15	2	1	3	1	1	0	3	3	5	3	4	6	2	1	0	6	2	3	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:37334389G>T	ENST00000403662.3	+	14	2761	c.2539G>T	c.(2539-2541)Gag>Tag	p.E847*	CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.E853*|CSF2RB_ENST00000262825.5_Nonsense_Mutation_p.E853*|CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.E794*			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	847					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)	ACCCGGTCCTGAGATCAAGAA	0.617																																																	0													103	124	117					22																	37334389		2203	4300	6503	SO:0001587	stop_gained	0			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.2539G>T	22.37:g.37334389G>T	ENSP00000384053:p.Glu847*		Q5JZI1|Q6ICE0	Nonsense_Mutation	SNP	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E853*	ENST00000403662.3	37	c.2557	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	G	34	5.314091	0.95655	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	.	.	.	5.54	3.46	0.39613	.	0.844482	0.09946	N	0.735322	.	.	.	.	.	.	0.54753	D	0.999982	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.6189	8.5768	0.33603	0.1772:0.0:0.8228:0.0	.	.	.	.	X	847;847;853;853;794	.	ENSP00000262825:E853X	E	+	1	0	CSF2RB	35664335	0.414000	0.25408	0.008000	0.14137	0.008000	0.06430	2.299000	0.43611	0.701000	0.31803	0.650000	0.86243	GAG	CSF2RB	-	pirsf_IL3_rcpt_beta	ENSG00000100368		0.617	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1		0	76	0	G	NM_000395		37334389	1			no_errors	ENST00000262825	ensembl	human	known	74_37	nonsense	6.00	47	3	SNP	0.022	T	T	37334389	G	T	37334389	4	4	139	1	0	0	0	0	0	1	0	0	3944	1291	45	3	2589	3	CSF2RB	22	37334389	Nonsense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	4580207	37334389	13970177	168	35610											
CARD10	29775	genome.wustl.edu	37	chr22	37906373	37906373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggcgggcccctggcccttCgaagcagtgcacactcttcc	5	7	13	16	2	1	0	0	0	1	0	3	1	2	0	4	4	2	2	4	4	1	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:37906373C>T	ENST00000403299.1	-	5	971	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	CARD10_ENST00000494166.1_5'UTR|CARD10_ENST00000406271.3_5'Flank|CARD10_ENST00000251973.5_Missense_Mutation_p.R252Q			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	252					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)					CCTGGCCCTTCGAAGCAGTGC	0.602																																																	0													33	34	34					22																	37906373		2203	4300	6503	SO:0001583	missense	0			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.755G>A	22.37:g.37906373C>T	ENSP00000384570:p.Arg252Gln		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.R252Q	ENST00000403299.1	37	c.755	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942819	0.53079	.	.	ENSG00000100065	ENST00000403299;ENST00000251973	T;T	0.35605	1.3;1.3	4.71	3.69	0.42338	.	0.546700	0.17298	N	0.179395	T	0.32285	0.0824	M	0.79123	2.44	0.29042	N	0.885025	P	0.48503	0.911	B	0.28991	0.097	T	0.41858	-0.9485	10	0.56958	D	0.05	-10.589	10.6924	0.45879	0.0:0.8395:0.0:0.1605	.	252	Q9BWT7	CAR10_HUMAN	Q	252	ENSP00000384570:R252Q;ENSP00000251973:R252Q	ENSP00000251973:R252Q	R	-	2	0	CARD10	36236319	0.947000	0.32204	0.445000	0.26908	0.665000	0.39181	2.078000	0.41567	0.967000	0.38186	0.655000	0.94253	CGA	CARD10	-	NULL	ENSG00000100065		0.602	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1		0	38	0	C	NM_014550		37906373	-1			no_errors	ENST00000251973	ensembl	human	known	74_37	missense	25.00	6	2	SNP	0.993	T	T	37906373	C	T	37906373	3	4	139	1	0	0	0	0	1	0	0	0	2651	884	31	1	2411	1	CARD10	22	37906373	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	571984	37906373	13398193	169	35611											
PLA2G6	8398	genome.wustl.edu	37	chr22	38531018	38531018	+	Frame_Shift_Del	DEL	G	G	-																															tgcgttcttggcccagtggaGggggctggctccgtaacggg																										TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:38531018delG	ENST00000332509.3	-	6	1054	c.871delC	c.(871-873)ctcfs	p.L291fs	PLA2G6_ENST00000402064.1_Frame_Shift_Del_p.L291fs|PLA2G6_ENST00000335539.3_Frame_Shift_Del_p.L291fs	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	291					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)	GCCCAGTGGAGGGGGCTGGCT	0.662																																																	0													49	50	50					22																	38531018		2203	4300	6503	SO:0001589	frameshift_variant	0			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.871delC	22.37:g.38531018delG	ENSP00000333142:p.Leu291fs		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L291fs	ENST00000332509.3	37	c.871	CCDS13967.1	22																																																																																			PLA2G6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000184381		0.662	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1		0	59	0	G	NM_001004426		38531018	-1	tier1		no_errors	ENST00000332509	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-	-	38531018	G	-	38531018	7	5	139	1	0	1	0	1	0	0	0	0	12047	1000	35	0	1597	0	PLA2G6	22	38531018	Frame_Shift_Del	DEL	G	TCGA-R6-A6DN-01B-11D-A31U-09	624645	38531018	12773548	170	35612											
APOBEC3H	164668	genome.wustl.edu	37	chr22	39497275	39497275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaaatttgctttattaacGagatcaagtccatgggactg	13	12	9	7	1	1	2	1	0	0	2	2	4	2	3	1	1	2	1	1	1	4	4			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:39497275G>A	ENST00000401756.1	+	3	260	c.184G>A	c.(184-186)Gag>Aag	p.E62K	APOBEC3H_ENST00000442487.3_Missense_Mutation_p.E62K|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.E62K|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.E62K	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	62	CMP/dCMP deaminase zinc-binding.				cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|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 process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CTTTATTAACGAGATCAAGTC	0.542																																																	0													98	85	89					22																	39497275		2203	4300	6503	SO:0001583	missense	0			BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"Apolipoprotein B mRNA editing enzymes"	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.184G>A	22.37:g.39497275G>A	ENSP00000385741:p.Glu62Lys		B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like	p.E62K	ENST00000401756.1	37	c.184	CCDS54530.1	22	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.592384	0.00864	.	.	ENSG00000100298	ENST00000348946;ENST00000442487;ENST00000421988;ENST00000401756	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	3.33	-5.13	0.02884	.	.	.	.	.	T	0.17280	0.0415	N	0.00300	-1.685	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27365	-1.0076	9	0.05436	T	0.98	-17.7871	5.6904	0.17827	0.2971:0.3031:0.3998:0.0	.	62	B7TQM3	.	K	62	ENSP00000216123:E62K;ENSP00000411754:E62K;ENSP00000393520:E62K;ENSP00000385741:E62K	ENSP00000216123:E62K	E	+	1	0	APOBEC3H	37827221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.972000	0.03802	-1.386000	0.02098	-2.756000	0.00123	GAG	APOBEC3H	-	pfam_APOBEC_N,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like	ENSG00000100298		0.542	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	APOBEC3H	HGNC	protein_coding	OTTHUMT00000321230.1	-	0	41	0	G	NM_181773		39497275	1	tier1	-	no_errors	ENST00000442487	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.000	A	A	39497275	G	A	39497275	3	1	139	1	0	0	0	0	1	0	0	0	795	1059	37	1	190	1	APOBEC3H	22	39497275	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	966257	39497275	11807291	171	35613											
SMC1B	27127	genome.wustl.edu	37	chr22	45798264	45798264	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttagcattccatgttccTttttcctggctttaactatg	7	19	6	9	0	0	0	0	0	0	0	3	0	3	0	3	1	2	4	3	1	4	9			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:45798264T>C	ENST00000357450.4	-	5	802	c.803A>G	c.(802-804)aAg>aGg	p.K268R	SMC1B_ENST00000404354.3_Missense_Mutation_p.K268R	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	268					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)		TCCATGTTCCTTTTTCCTGGC	0.333																																																	0													155	131	139					22																	45798264		1858	4093	5951	SO:0001583	missense	0			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.803A>G	22.37:g.45798264T>C	ENSP00000350036:p.Lys268Arg		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.K268R	ENST00000357450.4	37	c.803	CCDS43027.1	22	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232505	0.39498	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.80738	-1.41;3.31	5.9	4.86	0.63082	RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000005	T	0.78400	0.4277	L	0.61036	1.89	0.47245	D	0.999361	B;P;B	0.36110	0.329;0.537;0.314	B;B;B	0.41135	0.348;0.155;0.142	T	0.73975	-0.3813	10	0.33141	T	0.24	.	8.505	0.33181	0.1299:0.0:0.1363:0.7338	.	268;268;268	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	R	268	ENSP00000350036:K268R;ENSP00000385902:K268R	ENSP00000350036:K268R	K	-	2	0	SMC1B	44176928	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	4.574000	0.60900	1.042000	0.40150	-0.336000	0.08194	AAG	SMC1B	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000077935		0.333	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2	-	0	68	0	T	NM_148674		45798264	-1	tier1	-	no_errors	ENST00000357450	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	C	C	45798264	T	C	45798264	3	2	139	1	0	0	0	0	1	0	0	0	14827	1609	56	4	2988	4	SMC1B	22	45798264	Missense_Mutation	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09	6300989	45798264	5506302	172	35614											
CELSR1	9620	genome.wustl.edu	37	chr22	46859657	46859657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccctcgcggctgcggcagCggccgttggcgccgcacggg	2	4	18	17	9	0	0	0	0	0	0	1	0	0	0	3	5	2	4	3	5	0	1			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:46859657C>T	ENST00000262738.3	-	2	4129	c.4130G>A	c.(4129-4131)cGc>cAc	p.R1377H	CELSR1_ENST00000395964.1_Missense_Mutation_p.R1377H	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1377	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		GCTGCGGCAGCGGCCGTTGGC	0.682																																																	0													12	12	12					22																	46859657		2136	4163	6299	SO:0001583	missense	0			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.4130G>A	22.37:g.46859657C>T	ENSP00000262738:p.Arg1377His		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R1377H	ENST00000262738.3	37	c.4130	CCDS14076.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.990|8.990	0.977385|0.977385	0.18812|0.18812	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000454637|ENST00000262738;ENST00000395964	.|D;D	.|0.87571	.|-2.27;-2.08	4.22|4.22	3.14|3.14	0.36123|0.36123	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.187285	.|0.30714	.|U	.|0.009036	T|T	0.76033|0.76033	0.3931|0.3931	L|L	0.28556|0.28556	0.865|0.865	0.28563|0.28563	N|N	0.911038|0.911038	.|B	.|0.25206	.|0.12	.|B	.|0.15870	.|0.014	T|T	0.63625|0.63625	-0.6595|-0.6595	5|10	.|0.21540	.|T	.|0.41	.|.	9.4169|9.4169	0.38528|0.38528	0.424:0.576:0.0:0.0|0.424:0.576:0.0:0.0	.|.	.|1377	.|Q9NYQ6	.|CELR1_HUMAN	T|H	752|1377	.|ENSP00000262738:R1377H;ENSP00000379293:R1377H	.|ENSP00000262738:R1377H	A|R	-|-	1|2	0|0	CELSR1|CELSR1	45238321|45238321	0.311000|0.311000	0.24536|0.24536	0.998000|0.998000	0.56505|0.56505	0.632000|0.632000	0.37999|0.37999	0.874000|0.874000	0.28065|0.28065	2.173000|2.173000	0.68751|0.68751	0.655000|0.655000	0.94253|0.94253	GCT|CGC	CELSR1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000075275		0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	-	0	56	0	C	NM_014246		46859657	-1	tier1	-	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	57.78	19	26	SNP	0.967	T	T	46859657	C	T	46859657	3	4	139	1	0	0	0	0	1	0	0	0	3228	768	27	1	5050	1	CELSR1	22	46859657	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	1061393	46859657	4444909	173	35615											
KLF8	11279	genome.wustl.edu	37	chrX	56291804	56291804	+	Silent	SNP	T	T	C	0	1	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	gaaccagttgacctctccttTcacaagcccaaggctcctct	9	10	6	16	0	3	1	1	1	2	0	5	2	4	1	5	1	2	2	5	1	3	2			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chrX:56291804T>C	ENST00000468660.1	+	3	561	c.273T>C	c.(271-273)ttT>ttC	p.F91F	KLF8_ENST00000374928.3_Silent_p.F91F	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						ACCTCTCCTTTCACAAGCCCA	0.532																																																	0													65	55	58					X																	56291804		2203	4300	6503	SO:0001819	synonymous_variant	0			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.273T>C	X.37:g.56291804T>C			B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F91	ENST00000468660.1	37	c.273	CCDS14373.1	X																																																																																			KLF8	-	NULL	ENSG00000102349		0.532	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF8	HGNC	protein_coding	OTTHUMT00000056887.2		0	22	0	T	NM_007250		56291804	1			no_errors	ENST00000468660	ensembl	human	known	74_37	silent	11.43	31	4	SNP	1.000	C	C	56291804	T	C	56291804	2	2	139	1	0	0	0	0	0	0	0	1	8379	1780	62	4		4	KLF8	23	56291804	Silent	SNP	T	TCGA-R6-A6DN-01B-11D-A31U-09		56291804	98978756	174	35616											
ZCCHC5	203430	genome.wustl.edu	37	chrX	77912927	77912927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctccccttggcagagttGatggatgcactggttggcat	7	11	12	11	0	0	2	0	1	0	1	1	3	1	3	3	4	1	5	3	4	0	3			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chrX:77912927G>T	ENST00000321110.1	-	2	1286	c.991C>A	c.(991-993)Caa>Aaa	p.Q331K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	331							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						TGGCAGAGTTGATGGATGCAC	0.468																																																	0													72	59	64					X																	77912927		2203	4300	6503	SO:0001583	missense	0			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.991C>A	X.37:g.77912927G>T	ENSP00000316794:p.Gln331Lys		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q331K	ENST00000321110.1	37	c.991	CCDS14440.1	X	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.466768	0.01053	.	.	ENSG00000179300	ENST00000321110	T	0.17691	2.26	3.2	1.3	0.21679	.	0.755546	0.10283	N	0.693326	T	0.09423	0.0232	N	0.19112	0.55	0.09310	N	1	B	0.18310	0.027	B	0.08055	0.003	T	0.42015	-0.9476	10	0.14656	T	0.56	.	7.1407	0.25554	0.0:0.0:0.4875:0.5125	.	331	Q8N8U3	ZCHC5_HUMAN	K	331	ENSP00000316794:Q331K	ENSP00000316794:Q331K	Q	-	1	0	ZCCHC5	77799583	0.311000	0.24536	0.002000	0.10522	0.010000	0.07245	1.708000	0.37899	0.191000	0.20236	0.506000	0.49869	CAA	ZCCHC5	-	NULL	ENSG00000179300		0.468	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	-	0	39	0	G	NM_152694		77912927	-1	tier1	-	no_errors	ENST00000321110	ensembl	human	known	74_37	missense	77.14	8	27	SNP	0.002	T	T	77912927	G	T	77912927	3	4	139	1	0	0	0	0	1	0	0	0	17639	1299	45	3	440	3	ZCCHC5	23	77912927	Missense_Mutation	SNP	G	TCGA-R6-A6DN-01B-11D-A31U-09	21621123	77912927	77357633	175	35617											
RPS6KA6	27330	genome.wustl.edu	37	chrX	83351266	83351266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaattttccattgcctataCgcagcagtatctcttcagga	11	13	7	10	1	2	1	1	0	1	1	4	2	3	2	2	1	3	3	2	1	4	7			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chrX:83351266C>T	ENST00000262752.2	-	20	1914	c.1907G>A	c.(1906-1908)cGt>cAt	p.R636H	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R636H	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	636	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATTGCCTATACGCAGCAGTAT	0.363																																																	0													79	66	71					X																	83351266		2203	4300	6503	SO:0001583	missense	0			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.1907G>A	X.37:g.83351266C>T	ENSP00000262752:p.Arg636His		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.R636H	ENST00000262752.2	37	c.1907	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464452	0.63513	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.66815	-0.23;-0.23	4.97	1.22	0.21188	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.261494	0.39274	N	0.001420	T	0.52837	0.1759	L	0.41124	1.26	0.80722	D	1	P;P	0.48162	0.906;0.589	B;B	0.39935	0.314;0.157	T	0.50882	-0.8775	10	0.87932	D	0	.	9.3729	0.38266	0.0:0.6956:0.0:0.3044	.	636;636	B7ZL90;Q9UK32	.;KS6A6_HUMAN	H	636	ENSP00000262752:R636H;ENSP00000440830:R636H	ENSP00000262752:R636H	R	-	2	0	RPS6KA6	83237922	0.990000	0.36364	0.775000	0.31657	0.813000	0.45954	2.578000	0.46051	-0.111000	0.12001	-0.268000	0.10319	CGT	RPS6KA6	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000072133		0.363	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	-	0	67	0	C	NM_014496		83351266	-1	tier1	-	no_errors	ENST00000262752	ensembl	human	known	74_37	missense	37.25	32	19	SNP	0.998	T	T	83351266	C	T	83351266	3	4	139	1	0	0	0	0	1	0	0	0	13700	536	19	1	342	1	RPS6KA6	23	83351266	Missense_Mutation	SNP	C	TCGA-R6-A6DN-01B-11D-A31U-09	5438339	83351266	71919294	176	35618											
PRAMEF2	65122	genome.wustl.edu	37	chr1	12918902	12918902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	accgagactactggagctggCggggcagagcctgctgagag	9	5	17	10	2	0	3	0	1	0	3	0	6	0	4	2	4	4	3	2	4	1	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:12918902C>T	ENST00000240189.2	+	2	125	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	13					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)		CTGGAGCTGGCGGGGCAGAGC	0.567																																																	0													85	96	93					1																	12918902		2201	4297	6498	SO:0001583	missense	0				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.38C>T	1.37:g.12918902C>T	ENSP00000240189:p.Ala13Val			Missense_Mutation	SNP	NULL	p.A13V	ENST00000240189.2	37	c.38	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	c	7.735	0.699990	0.15106	.	.	ENSG00000120952	ENST00000240189	T	0.06371	3.31	0.842	-0.292	0.12839	.	0.149522	0.46145	D	0.000314	T	0.06142	0.0159	M	0.70108	2.13	0.09310	N	1	P	0.35077	0.483	B	0.28385	0.089	T	0.25117	-1.0141	10	0.72032	D	0.01	.	3.3578	0.07176	0.0:0.6655:0.0:0.3345	.	13	O60811	PRAM2_HUMAN	V	13	ENSP00000240189:A13V	ENSP00000240189:A13V	A	+	2	0	PRAMEF2	12841489	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.554000	0.06006	-0.108000	0.12066	0.194000	0.17425	GCG	PRAMEF2	-	NULL	ENSG00000120952		0.567	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1		0	68	0	C	NM_023014		12918902	1			no_errors	ENST00000240189	ensembl	human	known	74_37	missense	23.33	46	14	SNP	0.001	T	T	12918902	C	T	12918902	3	4	140	1	0	0	0	0	1	0	0	0	12477	768	27	1	40	1	PRAMEF2	1	12918902	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09		12918902	236331719	1	35619											
ARID1A	8289	genome.wustl.edu	37	chr1	27057668	27057668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttatggacaacaaggccCcagcgggtatggtcaacagg	11	7	12	11	1	1	0	1	0	0	0	2	1	2	1	3	5	3	1	3	5	5	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:27057668C>T	ENST00000324856.7	+	3	1747	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	ARID1A_ENST00000457599.2_Missense_Mutation_p.P459L|ARID1A_ENST00000374152.2_Missense_Mutation_p.P76L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	459					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)		CAACAAGGCCCCAGCGGGTAT	0.502			"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													192	197	195					1																	27057668		2203	4300	6503	SO:0001583	missense	0			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.1376C>T	1.37:g.27057668C>T	ENSP00000320485:p.Pro459Leu		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P459L	ENST00000324856.7	37	c.1376	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706880	0.48412	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	T;T;T;T	0.44083	4.46;4.22;0.93;4.26	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	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	0.997;0.999;0.997	T	0.27123	-1.0083	10	0.07644	T	0.81	-8.6654	18.5443	0.91040	0.0:1.0:0.0:0.0	.	459;459;113	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	L	459;459;76;76	ENSP00000320485:P459L;ENSP00000387636:P459L;ENSP00000432473:P76L;ENSP00000363267:P76L	ENSP00000320485:P459L	P	+	2	0	ARID1A	26930255	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.799000	0.75160	2.615000	0.88500	0.561000	0.74099	CCC	ARID1A	-	NULL	ENSG00000117713		0.502	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2		0	51	0	C	NM_139135		27057668	1			no_errors	ENST00000324856	ensembl	human	known	74_37	missense	21.15	41	11	SNP	1.000	T	T	27057668	C	T	27057668	3	4	140	1	0	0	0	0	1	0	0	0	913	623	22	3	1386	3	ARID1A	1	27057668	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	14138766	27057668	222192953	2	35620											
EYA3	2140	genome.wustl.edu	37	chr1	28319962	28319962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctcactttccggtagcGgaaagctagtttcctcatcc	7	14	7	13	2	3	0	2	0	1	0	7	1	6	1	3	2	2	3	3	2	3	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:28319962G>T	ENST00000373871.3	-	14	1492	c.1252C>A	c.(1252-1254)Cgc>Agc	p.R418S	EYA3_ENST00000540618.1_Missense_Mutation_p.R372S|EYA3_ENST00000436342.2_Missense_Mutation_p.R292S|EYA3_ENST00000545175.1_Missense_Mutation_p.R365S|EYA3_ENST00000373863.3_Missense_Mutation_p.R372S|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Missense_Mutation_p.R261S	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	418					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|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;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TTCCGGTAGCGGAAAGCTAGT	0.473																																																	0													144	136	139					1																	28319962		2203	4300	6503	SO:0001583	missense	0			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	3521	protein-coding gene	gene with protein product		601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.1252C>A	1.37:g.28319962G>T	ENSP00000362978:p.Arg418Ser		A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.R418S	ENST00000373871.3	37	c.1252	CCDS316.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446634	0.84101	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.6	5.6	0.85130	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.90930	0.7149	M	0.82323	2.585	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	0.91689	0.5364	10	0.87932	D	0	-18.5502	19.6033	0.95572	0.0:0.0:1.0:0.0	.	372;372;418	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	S	418;292;261;372;365;372	ENSP00000362978:R418S;ENSP00000405587:R292S;ENSP00000362971:R261S;ENSP00000442558:R372S;ENSP00000442280:R365S;ENSP00000362970:R372S	ENSP00000362970:R372S	R	-	1	0	EYA3	28192549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.320000	0.72876	2.643000	0.89663	0.555000	0.69702	CGC	EYA3	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000158161		0.473	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1		0	36	0	G	NM_001990		28319962	-1			no_errors	ENST00000373871	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	28319962	G	T	28319962	3	4	140	1	0	0	0	0	1	0	0	0	5346	1116	39	2	489	2	EYA3	1	28319962	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	1262294	28319962	220930659	3	35621											
EIF2C3	192669	genome.wustl.edu	37	chr1	36437667	36437667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggggaaggtggaaaagatCgacctttcaaggtgtcaatc	12	9	13	7	1	2	1	2	0	0	1	4	4	2	3	1	5	0	0	1	5	5	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:36437667C>G	ENST00000373191.4	+	4	704	c.355C>G	c.(355-357)Cga>Gga	p.R119G	AGO3_ENST00000397828.2_Missense_Mutation_p.R119G|AGO3_ENST00000246314.6_5'UTR|AGO3_ENST00000324350.5_Missense_Mutation_p.R119G	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	119					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)										TGGAAAAGATCGACCTTTCAA	0.413																																																	0													121	108	112					1																	36437667		2203	4300	6503	SO:0001583	missense	0			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.355C>G	1.37:g.36437667C>G	ENSP00000362287:p.Arg119Gly		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.R119G	ENST00000373191.4	37	c.355	CCDS399.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430754	0.83776	.	.	ENSG00000126070	ENST00000324350;ENST00000373191;ENST00000397828	T	0.11712	2.75	5.44	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.24160	0.0585	M	0.89601	3.045	0.80722	D	1	B;B	0.33857	0.008;0.429	B;B	0.35899	0.024;0.213	T	0.13899	-1.0492	10	0.72032	D	0.01	-43.2134	15.615	0.76760	0.1387:0.8613:0.0:0.0	.	119;119	Q9H9G7;Q5TA56	AGO3_HUMAN;.	G	119	ENSP00000362287:R119G	ENSP00000317425:R119G	R	+	1	2	EIF2C3	36210254	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.991000	0.70602	1.350000	0.45770	0.563000	0.77884	CGA	AGO3	-	NULL	ENSG00000126070		0.413	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO3	HGNC	protein_coding	OTTHUMT00000019831.4		0	30	0	C	NM_024852		36437667	1			no_errors	ENST00000373191	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	G	G	36437667	C	G	36437667	3	3	140	1	0	0	0	0	1	0	0	0	5021	876	31	5	369	5	EIF2C3	1	36437667	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	8117705	36437667	212812954	4	35622											
RAVER2	55225	genome.wustl.edu	37	chr1	65278495	65278495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtaaaaatccatacttGaatttggcaagtgtgttgcc	12	13	8	8	0	1	1	1	1	0	0	2	1	2	1	2	1	2	3	2	1	6	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:65278495G>T	ENST00000294428.3	+	10	1833	c.1755G>T	c.(1753-1755)ttG>ttT	p.L585F	RAVER2_ENST00000430964.2_Missense_Mutation_p.L124F|RAVER2_ENST00000371072.4_Missense_Mutation_p.L572F			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	585						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATCCATACTTGAATTTGGCAA	0.378																																																	0													125	113	117					1																	65278495		1829	4089	5918	SO:0001583	missense	0			AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"RNA binding motif (RRM) containing"	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1755G>T	1.37:g.65278495G>T	ENSP00000294428:p.Leu585Phe		Q6P141|Q9NPV7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L585F	ENST00000294428.3	37	c.1755		1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735109	0.69189	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	D;D;D	0.82081	-1.57;-1.57;-1.57	5.49	5.49	0.81192	.	0.081979	0.48767	D	0.000165	D	0.88496	0.6452	M	0.62723	1.935	0.44477	D	0.997419	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89295	0.3622	10	0.72032	D	0.01	-15.7564	17.1455	0.86765	0.0:0.0:1.0:0.0	.	585;572	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	F	572;585;124	ENSP00000360112:L572F;ENSP00000294428:L585F;ENSP00000408950:L124F	ENSP00000294428:L585F	L	+	3	2	RAVER2	65051083	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	4.236000	0.58675	2.558000	0.86282	0.579000	0.79373	TTG	RAVER2	-	NULL	ENSG00000162437		0.378	RAVER2-201	KNOWN	basic	protein_coding	RAVER2	HGNC	protein_coding			0	77	0	G	NM_018211		65278495	1			no_errors	ENST00000294428	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	65278495	G	T	65278495	3	4	140	1	0	0	0	0	1	0	0	0	13140	1281	45	3	1754	3	RAVER2	1	65278495	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	28840828	65278495	183972126	5	35623											
BCL10	8915	genome.wustl.edu	37	chr1	85733626	85733626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctggagaggttgttcgtgGctccatctggaaaaggttca	9	12	13	7	1	3	1	1	0	2	1	5	3	4	2	1	5	0	4	1	5	2	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:85733626G>A	ENST00000370580.1	-	3	1123	c.386C>T	c.(385-387)gCc>gTc	p.A129V		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	129					adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|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 interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GTTGTTCGTGGCTCCATCTGG	0.388			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)			Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	0													90	88	89					1																	85733626		2203	4300	6503	SO:0001583	missense	0			AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"CARD-like apoptotic protein", "CARD-containing apoptotic signaling protein", "CARD containing molecule enhancing NF-kB", "caspase-recruiting domain-containing protein", "CARD-containing proapoptotic protein"	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.386C>T	1.37:g.85733626G>A	ENSP00000359612:p.Ala129Val		Q5VUF1	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.A129V	ENST00000370580.1	37	c.386	CCDS704.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097339	0.76870	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	.	.	.	5.98	5.98	0.97165	.	0.290751	0.36303	N	0.002669	T	0.30665	0.0772	L	0.43152	1.355	0.34355	D	0.690297	B	0.30068	0.267	B	0.28139	0.086	T	0.30387	-0.9980	9	0.46703	T	0.11	-12.6067	12.2468	0.54574	0.0:0.1353:0.7396:0.1251	.	129	O95999	BCL10_HUMAN	V	129;129;118	.	ENSP00000271015:A129V	A	-	2	0	BCL10	85506214	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.983000	0.56916	2.838000	0.97847	0.591000	0.81541	GCC	BCL10	-	NULL	ENSG00000142867		0.388	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL10	HGNC	protein_coding	OTTHUMT00000027612.1		0	28	0	G	NM_003921		85733626	-1			no_errors	ENST00000370580	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	A	A	85733626	G	A	85733626	3	1	140	1	0	0	0	0	1	0	0	0	1363	1203	42	3	319	3	BCL10	1	85733626	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	20455131	85733626	163516995	6	35624											
TRIM45	80263	genome.wustl.edu	37	chr1	117661118	117661118	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggatctgagccagggcttCctccagggcctccacgtggg	5	8	15	13	1	1	1	0	1	1	0	4	2	4	2	5	4	1	1	5	4	0	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:117661118C>A	ENST00000256649.4	-	2	1286	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	TRIM45_ENST00000369461.3_Nonsense_Mutation_p.E197*|TRIM45_ENST00000369464.3_Nonsense_Mutation_p.E254*	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	254					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E254K(1)		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)		GCCAGGGCTTCCTCCAGGGCC	0.572																																																	1	Substitution - Missense(1)	NS(1)											60	61	61					1																	117661118		2203	4300	6503	SO:0001587	stop_gained	0				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.760G>T	1.37:g.117661118C>A	ENSP00000256649:p.Glu254*		Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Nonsense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING	p.E254*	ENST00000256649.4	37	c.760	CCDS893.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.675924	0.97755	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	.	.	.	5.32	3.3	0.37823	.	0.441460	0.26293	N	0.025215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-11.2626	11.8385	0.52340	0.0:0.8364:0.0:0.1636	.	.	.	.	X	254;254;197	.	ENSP00000256649:E254X	E	-	1	0	TRIM45	117462641	0.986000	0.35501	0.896000	0.35187	0.269000	0.26545	2.765000	0.47621	1.473000	0.48159	0.655000	0.94253	GAA	TRIM45	-	smart_Bbox_C	ENSG00000134253		0.572	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM45	HGNC	protein_coding	OTTHUMT00000033503.1		0	46	0	C	NM_025188		117661118	-1			no_errors	ENST00000256649	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.814	A	A	117661118	C	A	117661118	4	1	140	1	0	0	0	0	0	1	0	0	16568	864	30	3	1002	3	TRIM45	1	117661118	Nonsense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	31927492	117661118	131589503	7	35625											
BCL9	607	genome.wustl.edu	37	chr1	147090734	147090734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagactgcagccaactcCacccattccggcaccagcac	11	5	6	19	1	0	1	0	0	0	1	2	1	2	1	6	1	5	3	6	1	2	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:147090734C>T	ENST00000234739.3	+	8	1513	c.773C>T	c.(772-774)cCa>cTa	p.P258L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	258	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAGCCAACTCCACCCATTCCG	0.587			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													70	71	70					1																	147090734		2203	4300	6503	SO:0001583	missense	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.773C>T	1.37:g.147090734C>T	ENSP00000234739:p.Pro258Leu		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P258L	ENST00000234739.3	37	c.773	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047263	0.55110	.	.	ENSG00000116128	ENST00000234739	T	0.67345	-0.26	5.46	5.46	0.80206	.	0.291123	0.36303	N	0.002664	T	0.41604	0.1166	N	0.22421	0.69	0.52099	D	0.999949	P;P	0.37781	0.608;0.608	B;B	0.35550	0.205;0.205	T	0.54556	-0.8276	10	0.72032	D	0.01	-5.4675	14.3604	0.66768	0.1477:0.8522:0.0:0.0	.	258;258	Q1JQ81;O00512	.;BCL9_HUMAN	L	258	ENSP00000234739:P258L	ENSP00000234739:P258L	P	+	2	0	BCL9	145557358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.778000	0.47726	2.840000	0.97914	0.655000	0.94253	CCA	BCL9	-	NULL	ENSG00000116128		0.587	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1		0	27	0	C	NM_004326		147090734	1			no_errors	ENST00000234739	ensembl	human	known	74_37	missense	18.18	9	2	SNP	1.000	T	T	147090734	C	T	147090734	3	4	140	1	0	0	0	0	1	0	0	0	1382	594	21	3	791	3	BCL9	1	147090734	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	29429616	147090734	102159887	8	35626											
VPS72	6944	genome.wustl.edu	37	chr1	151156966	151156966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactgacgcatagacttcCgacctggaagagagtgagat	13	8	12	8	2	0	5	0	2	0	4	1	9	1	6	2	1	0	1	2	1	3	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:151156966C>T	ENST00000354473.4	-	4	425	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	130					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	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)			CATAGACTTCCGACCTGGAAG	0.418																																					Pancreas(109;1131 2287 3209 24201)												0													57	54	55					1																	151156966		2203	4300	6503	SO:0001583	missense	0			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.389G>A	1.37:g.151156966C>T	ENSP00000346464:p.Arg130Gln		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	pfam_YL1,pfam_YL1_C	p.R130Q	ENST00000354473.4	37	c.389	CCDS59201.1	1	.	.	.	.	.	.	.	.	.	.	.	33	5.230029	0.95173	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	6.16	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	M	0.92459	3.31	0.80722	D	1	D	0.57899	0.981	P	0.46253	0.509	T	0.78899	-0.2022	9	0.72032	D	0.01	-0.4146	15.4266	0.75055	0.0:0.9331:0.0:0.0669	.	130	Q15906	VPS72_HUMAN	Q	130	.	ENSP00000346464:R130Q	R	-	2	0	VPS72	149423590	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.342000	0.79310	1.623000	0.50342	0.650000	0.86243	CGG	VPS72	-	pfam_YL1	ENSG00000163159		0.418	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	HGNC	protein_coding	OTTHUMT00000034394.3		0	21	0	C	NM_005997		151156966	-1			no_errors	ENST00000368892	ensembl	human	known	74_37	missense	13.33	13	2	SNP	1.000	T	T	151156966	C	T	151156966	3	4	140	1	0	0	0	0	1	0	0	0	17266	652	23	1	717	1	VPS72	1	151156966	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	4066232	151156966	98093655	9	35627											
PAPPA2	60676	genome.wustl.edu	37	chr1	176659433	176659433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacagtgccatccatggaAacgggagacctctgtgccga	11	6	13	11	2	1	2	0	0	1	2	2	6	2	3	4	2	3	0	4	2	1	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:176659433A>C	ENST00000367662.3	+	5	3462	c.2298A>C	c.(2296-2298)gaA>gaC	p.E766D	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E766D	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	766					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						CATCCATGGAAACGGGAGACC	0.557																																																	0													114	119	118					1																	176659433		2021	4200	6221	SO:0001583	missense	0			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.2298A>C	1.37:g.176659433A>C	ENSP00000356634:p.Glu766Asp		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.E766D	ENST00000367662.3	37	c.2298	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.865479	0.51588	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.35421	4.54;1.31	5.12	-10.2	0.00374	Peptidase M43, pregnancy-associated plasma-A (1);	0.248833	0.40640	N	0.001043	T	0.33990	0.0882	M	0.68593	2.085	0.31458	N	0.669902	B;B	0.32604	0.377;0.145	P;B	0.47827	0.558;0.06	T	0.46748	-0.9169	10	0.35671	T	0.21	-8.3549	3.8244	0.08848	0.2932:0.2778:0.3448:0.0842	.	766;766	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	D	766	ENSP00000356634:E766D;ENSP00000356633:E766D	ENSP00000356633:E766D	E	+	3	2	PAPPA2	174926056	0.475000	0.25894	0.497000	0.27552	0.956000	0.61745	-0.289000	0.08365	-2.579000	0.00463	0.460000	0.39030	GAA	PAPPA2	-	pfam_Peptidase_M43	ENSG00000116183		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1		0	38	0	A			176659433	1			no_errors	ENST00000367662	ensembl	human	known	74_37	missense	28.26	33	13	SNP	0.587	C	C	176659433	A	C	176659433	3	2	140	1	0	0	0	0	1	0	0	0	11472	11	1	4	2312	4	PAPPA2	1	176659433	Missense_Mutation	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	25502467	176659433	72591188	10	35628											
SMG7	9887	genome.wustl.edu	37	chr1	183520015	183520015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgggactccagataacaGggatagaaggactgcagatc	14	7	12	8	0	0	3	0	0	0	3	2	6	1	6	1	3	2	1	1	3	3	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:183520015G>A	ENST00000347615.2	+	20	3232	c.3113G>A	c.(3112-3114)aGg>aAg	p.R1038K	SMG7_ENST00000515829.2_Missense_Mutation_p.R992K|SMG7_ENST00000508461.1_Missense_Mutation_p.R1046K|SMG7_ENST00000367537.3_Missense_Mutation_p.R1071K|SMG7_ENST00000507469.1_Missense_Mutation_p.R1042K|SMG7_ENST00000456731.2_Missense_Mutation_p.R950K	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1038					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCAGATAACAGGGATAGAAGG	0.453																																																	0													97	94	95					1																	183520015		2203	4300	6503	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3113G>A	1.37:g.183520015G>A	ENSP00000340766:p.Arg1038Lys		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.R1042K	ENST00000347615.2	37	c.3125	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840410	0.91197	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.33438	1.44;1.47;1.42;1.51;1.41;1.41	5.45	4.53	0.55603	.	0.100565	0.64402	D	0.000002	T	0.42154	0.1190	L	0.29908	0.895	0.48511	D	0.999669	D;D;D;D;D	0.58268	0.982;0.982;0.974;0.982;0.982	D;D;D;D;D	0.70487	0.952;0.952;0.969;0.952;0.952	T	0.16928	-1.0386	10	0.22706	T	0.39	-12.6283	16.7134	0.85391	0.0:0.1294:0.8706:0.0	.	1046;950;992;1038;1042	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	K	950;1071;1046;1038;1042;992	ENSP00000407629:R950K;ENSP00000356507:R1071K;ENSP00000426915:R1046K;ENSP00000340766:R1038K;ENSP00000425133:R1042K;ENSP00000421358:R992K	ENSP00000340766:R1038K	R	+	2	0	SMG7	181786638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.932000	0.92897	1.425000	0.47237	0.650000	0.86243	AGG	SMG7	-	NULL	ENSG00000116698		0.453	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1		0	29	0	G	NM_014837		183520015	1			no_errors	ENST00000507469	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	A	A	183520015	G	A	183520015	3	1	140	1	0	0	0	0	1	0	0	0	14843	1000	35	3	3345	3	SMG7	1	183520015	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	6860582	183520015	65730606	11	35629											
ATP2B4	493	genome.wustl.edu	37	chr1	203668687	203668687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagtgatcatcgtggtgtTagtgactgcctttaatgatt	8	16	10	7	1	2	3	2	3	0	0	3	3	2	3	1	1	1	1	1	1	2	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:203668687T>C	ENST00000357681.5	+	4	1614	c.491T>C	c.(490-492)tTa>tCa	p.L164S	ATP2B4_ENST00000367218.3_Missense_Mutation_p.L164S|ATP2B4_ENST00000367219.3_Missense_Mutation_p.L164S|ATP2B4_ENST00000391954.2_Missense_Mutation_p.L164S|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L164S	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	164					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)			ATCGTGGTGTTAGTGACTGCC	0.502																																																	0													169	164	166					1																	203668687		2203	4300	6503	SO:0001583	missense	0			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.491T>C	1.37:g.203668687T>C	ENSP00000350310:p.Leu164Ser		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.L164S	ENST00000357681.5	37	c.491	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429087	0.62844	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82	5.19	5.19	0.71726	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.346678	0.19938	N	0.102715	D	0.93409	0.7898	M	0.64997	1.995	0.80722	D	1	D;B;P	0.56746	0.977;0.449;0.759	P;B;P	0.59546	0.859;0.363;0.564	D	0.93939	0.7221	10	0.87932	D	0	-4.3579	14.7292	0.69368	0.0:0.0:0.0:1.0	.	164;164;164	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	S	164	ENSP00000350310:L164S;ENSP00000356187:L164S;ENSP00000356188:L164S;ENSP00000375816:L164S;ENSP00000340930:L164S	ENSP00000340930:L164S	L	+	2	0	ATP2B4	201935310	1.000000	0.71417	0.456000	0.27044	0.997000	0.91878	8.035000	0.88872	1.974000	0.57490	0.533000	0.62120	TTA	ATP2B4	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000058668		0.502	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1		0	56	0	T	NM_001001396		203668687	1			no_errors	ENST00000357681	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	C	C	203668687	T	C	203668687	3	2	140	1	0	0	0	0	1	0	0	0	1143	1764	61	4	501	4	ATP2B4	1	203668687	Missense_Mutation	SNP	T	TCGA-R6-A6DQ-01B-11D-A31U-09	20148672	203668687	45581934	12	35630											
NFASC	23114	genome.wustl.edu	37	chr1	204943394	204943394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggactgccctttctttgGgtctcccatccccacactgc	4	12	8	17	0	2	0	0	0	2	0	4	1	3	1	4	2	2	1	4	2	0	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:204943394G>T	ENST00000401399.1	+	12	1566	c.1367G>T	c.(1366-1368)gGg>gTg	p.G456V	NFASC_ENST00000539706.1_Missense_Mutation_p.G467V|NFASC_ENST00000513543.1_Missense_Mutation_p.G467V|NFASC_ENST00000338586.6_Missense_Mutation_p.G456V|NFASC_ENST00000367169.4_Missense_Mutation_p.G456V|NFASC_ENST00000338515.6_Missense_Mutation_p.G456V|NFASC_ENST00000367172.4_Missense_Mutation_p.G456V|NFASC_ENST00000403080.1_Missense_Mutation_p.G456V|NFASC_ENST00000360049.4_Missense_Mutation_p.G467V|NFASC_ENST00000404076.1_Missense_Mutation_p.G450V|NFASC_ENST00000339876.6_Missense_Mutation_p.G456V|NFASC_ENST00000404907.1_Missense_Mutation_p.G467V|NFASC_ENST00000367170.4_Missense_Mutation_p.G456V|NFASC_ENST00000367171.4_Missense_Mutation_p.G456V			O94856	NFASC_HUMAN	neurofascin	456	Ig-like C2-type 5.				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)			CCTTTCTTTGGGTCTCCCATC	0.567																																																	0													81	54	63					1																	204943394		2203	4300	6503	SO:0001583	missense	0			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.1367G>T	1.37:g.204943394G>T	ENSP00000385637:p.Gly456Val		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G456V	ENST00000401399.1	37	c.1367	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.4|28.4	4.914533|4.914533	0.92178|0.92178	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	T|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80123|0.79940	-1.34|-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|0.000000	0.53938|0.53938	D|D	0.000051|0.000051	D|D	0.92954|0.92954	0.7758|0.7758	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;0.998;1.0;0.999;0.992;0.998;1.0	D|D	0.94499|0.94499	0.7708|0.7708	8|10	0.87932|0.87932	D|D	0|0	.|.	19.0836|19.0836	0.93192|0.93192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|467;467;552;456;456;467;456	.|O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.;.	C|V	426|456;456;456;456;456;456;467;467;467;456;456;450;456;467;467;443	ENSP00000356141:G426C|ENSP00000356140:G456V;ENSP00000356139:G456V;ENSP00000356138:G456V;ENSP00000342128:G456V;ENSP00000344786:G456V;ENSP00000343509:G456V;ENSP00000438614:G467V;ENSP00000353154:G467V;ENSP00000356137:G456V;ENSP00000384875:G456V;ENSP00000385676:G450V;ENSP00000385637:G456V;ENSP00000384061:G467V;ENSP00000425908:G467V;ENSP00000415031:G443V	ENSP00000356141:G426C|ENSP00000295776:G467V	G|G	+|+	1|2	0|0	NFASC|NFASC	203210017|203210017	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.934000|0.934000	0.57294|0.57294	9.168000|9.168000	0.94781|0.94781	2.612000|2.612000	0.88384|0.88384	0.585000|0.585000	0.79938|0.79938	GGT|GGG	NFASC	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000163531		0.567	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1		0	46	0	G	NM_001005388		204943394	1			no_errors	ENST00000367172	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	204943394	G	T	204943394	3	4	140	1	0	0	0	0	1	0	0	0	10398	1232	43	3	1464	3	NFASC	1	204943394	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	1274707	204943394	44307227	13	35631											
SLC30A1	7779	genome.wustl.edu	37	chr1	211748878	211748878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactgctggggtcttttctGcatcctttccagaaggggct	6	14	11	10	0	2	1	0	0	2	1	4	1	4	1	2	4	3	3	2	4	2	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:211748878G>T	ENST00000367001.4	-	2	1505	c.1376C>A	c.(1375-1377)gCa>gAa	p.A459E		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	459					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)		GGTCTTTTCTGCATCCTTTCC	0.453																																																	0													107	108	108					1																	211748878		2203	4300	6503	SO:0001583	missense	0			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.1376C>A	1.37:g.211748878G>T	ENSP00000355968:p.Ala459Glu		Q0VAK9|Q9BZF6	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A459E	ENST00000367001.4	37	c.1376	CCDS1499.1	1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899907	0.33535	.	.	ENSG00000170385	ENST00000367001	T	0.63096	-0.02	5.24	3.34	0.38264	.	1.091970	0.06996	N	0.822365	T	0.43433	0.1247	N	0.19112	0.55	0.34563	D	0.712576	B	0.27559	0.181	B	0.20767	0.031	T	0.32455	-0.9906	10	0.02654	T	1	0.1058	11.0662	0.47976	0.0706:0.1286:0.8007:0.0	.	459	Q9Y6M5	ZNT1_HUMAN	E	459	ENSP00000355968:A459E	ENSP00000355968:A459E	A	-	2	0	SLC30A1	209815501	0.992000	0.36948	0.994000	0.49952	0.980000	0.70556	2.059000	0.41384	0.568000	0.29311	0.563000	0.77884	GCA	SLC30A1	-	NULL	ENSG00000170385		0.453	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A1	HGNC	protein_coding	OTTHUMT00000104738.2		0	58	0	G			211748878	-1			no_errors	ENST00000367001	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	211748878	G	T	211748878	3	4	140	1	0	0	0	0	1	0	0	0	14598	1319	46	3	151	3	SLC30A1	1	211748878	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	6805484	211748878	37501743	14	35632											
PROX1	5629	genome.wustl.edu	37	chr1	214171287	214171287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgcaccagtcgcctctctCtgccaccacgggcttcacca	6	8	7	20	2	3	0	1	0	2	0	5	0	3	0	6	1	2	2	6	1	0	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:214171287C>G	ENST00000366958.4	+	2	2017	c.1409C>G	c.(1408-1410)tCt>tGt	p.S470C	PROX1_ENST00000498508.2_Missense_Mutation_p.S470C|PROX1_ENST00000261454.4_Missense_Mutation_p.S470C|PROX1_ENST00000435016.1_Missense_Mutation_p.S470C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	470					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)		TCGCCTCTCTCTGCCACCACG	0.652																																																	0													75	89	84					1																	214171287		2203	4300	6503	SO:0001583	missense	0			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.1409C>G	1.37:g.214171287C>G	ENSP00000355925:p.Ser470Cys		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.S470C	ENST00000366958.4	37	c.1409	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132713	0.56828	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.50548	0.75;0.74;0.75;0.75	5.47	5.47	0.80525	.	0.051812	0.85682	D	0.000000	T	0.65217	0.2670	L	0.60455	1.87	0.80722	D	1	D	0.67145	0.996	P	0.62649	0.905	T	0.67078	-0.5761	10	0.72032	D	0.01	-2.8496	19.3291	0.94278	0.0:1.0:0.0:0.0	.	470	Q92786	PROX1_HUMAN	C	42;470;470;470;470	ENSP00000420283:S470C;ENSP00000355925:S470C;ENSP00000400694:S470C;ENSP00000261454:S470C	ENSP00000261454:S470C	S	+	2	0	PROX1	212237910	1.000000	0.71417	0.936000	0.37596	0.983000	0.72400	5.948000	0.70249	2.582000	0.87167	0.655000	0.94253	TCT	PROX1	-	pfam_Homeo_prospero_dom	ENSG00000117707		0.652	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6		0	19	0	C	NM_002763		214171287	1			no_errors	ENST00000261454	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	G	G	214171287	C	G	214171287	3	3	140	1	0	0	0	0	1	0	0	0	12602	913	32	5	1411	5	PROX1	1	214171287	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	2422409	214171287	35079334	15	35633											
PROX1	5629	genome.wustl.edu	37	chr1	214171467	214171467	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgaggaccaagatgtcatCtcaccacctgagccaccacc	11	7	7	16	0	3	3	2	2	2	1	4	4	3	4	6	1	1	0	6	1	1	0	rs148478012		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:214171467C>G	ENST00000366958.4	+	2	2197	c.1589C>G	c.(1588-1590)tCt>tGt	p.S530C	PROX1_ENST00000498508.2_Missense_Mutation_p.S530C|PROX1_ENST00000261454.4_Missense_Mutation_p.S530C|PROX1_ENST00000435016.1_Missense_Mutation_p.S530C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	530					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)		AAGATGTCATCTCACCACCTG	0.557																																																	0								C	CYS/SER	0,4406		0,0,2203	103	104	104		1589	5.4	1	1	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense	PROX1	NM_002763.3	112	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	530/738	214171467	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1589C>G	1.37:g.214171467C>G	ENSP00000355925:p.Ser530Cys		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.S530C	ENST00000366958.4	37	c.1589	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225805	0.58668	0.0	1.16E-4	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.53640	0.63;0.61;0.63;0.63	5.39	5.39	0.77823	.	0.167232	0.56097	D	0.000036	T	0.71451	0.3341	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.74797	-0.3543	10	0.72032	D	0.01	-3.8601	19.1711	0.93578	0.0:1.0:0.0:0.0	.	530	Q92786	PROX1_HUMAN	C	102;530;530;530;530	ENSP00000420283:S530C;ENSP00000355925:S530C;ENSP00000400694:S530C;ENSP00000261454:S530C	ENSP00000261454:S530C	S	+	2	0	PROX1	212238090	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	5.999000	0.70665	2.525000	0.85131	0.655000	0.94253	TCT	PROX1	-	pfam_Homeo_prospero_dom	ENSG00000117707		0.557	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6		0	38	0	C	NM_002763		214171467	1			no_errors	ENST00000261454	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	G	G	214171467	C	G	214171467	3	3	140	1	0	0	0	0	1	0	0	0	12602	913	32	5	1591	5	PROX1	1	214171467	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	180	214171467	35079154	16	35634											
SPATA17	128153	genome.wustl.edu	37	chr1	217856603	217856603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatttactttaatagattCagagacgatggcgaggctat	12	15	9	5	2	1	2	1	0	0	2	1	5	1	2	0	2	1	1	0	2	5	9			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:217856603C>A	ENST00000366933.4	+	5	350	c.295C>A	c.(295-297)Cag>Aag	p.Q99K		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	99	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTAATAGATTCAGAGACGATG	0.313																																																	0													77	91	86					1																	217856603		2193	4298	6491	SO:0001583	missense	0			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.295C>A	1.37:g.217856603C>A	ENSP00000355900:p.Gln99Lys		A5D6N2	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q99K	ENST00000366933.4	37	c.295	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667929	0.67814	.	.	ENSG00000162814	ENST00000366933	D	0.86297	-2.1	5.43	5.43	0.79202	.	0.057404	0.64402	D	0.000001	D	0.94387	0.8195	M	0.86028	2.79	0.48236	D	0.999614	D	0.89917	1.0	D	0.91635	0.999	D	0.94913	0.8066	10	0.87932	D	0	-26.3626	19.2545	0.93940	0.0:1.0:0.0:0.0	.	99	Q96L03	SPT17_HUMAN	K	99	ENSP00000355900:Q99K	ENSP00000355900:Q99K	Q	+	1	0	SPATA17	215923226	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	6.134000	0.71689	2.537000	0.85549	0.555000	0.69702	CAG	SPATA17	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000162814		0.313	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	HGNC	protein_coding	OTTHUMT00000092433.2		0	89	0	C	NM_138796		217856603	1			no_errors	ENST00000366933	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	217856603	C	A	217856603	3	1	140	1	0	0	0	0	1	0	0	0	15049	827	29	3	313	3	SPATA17	1	217856603	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	3685136	217856603	31394018	17	35635											
WDR64	128025	genome.wustl.edu	37	chr1	241946598	241946598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	tcaagcagctgctttcctggCgtgctcattctttggaaatt	7	15	9	10	1	3	0	2	0	1	0	4	1	4	1	1	2	4	4	1	2	2	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:241946598C>A	ENST00000366552.2	+	22	2797	c.2590C>A	c.(2590-2592)Cgt>Agt	p.R864S	WDR64_ENST00000437684.2_Missense_Mutation_p.R697S	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	864										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GCTTTCCTGGCGTGCTCATTC	0.373																																																	0													70	66	67					1																	241946598		2203	4300	6503	SO:0001583	missense	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2590C>A	1.37:g.241946598C>A	ENSP00000355510:p.Arg864Ser		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R864S	ENST00000366552.2	37	c.2590		1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690169	0.88735	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.46819	0.86;1.06;0.86	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.102421	0.43416	D	0.000562	T	0.68714	0.3031	M	0.76002	2.32	0.29935	N	0.821535	D;D	0.89917	1.0;0.995	D;P	0.78314	0.991;0.891	T	0.67573	-0.5636	10	0.46703	T	0.11	-6.1842	16.6706	0.85266	0.0:1.0:0.0:0.0	.	864;417	B1ANS9;D1MPS4	WDR64_HUMAN;.	S	864;697;468	ENSP00000355510:R864S;ENSP00000402446:R697S;ENSP00000406656:R468S	ENSP00000355510:R864S	R	+	1	0	WDR64	240013221	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.839000	0.39220	2.690000	0.91761	0.655000	0.94253	CGT	WDR64	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000162843		0.373	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding			0	58	0	C	NM_144625		241946598	1			no_errors	ENST00000366552	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	241946598	C	A	241946598	3	1	140	1	0	0	0	0	1	0	0	0	17364	768	27	2	2676	2	WDR64	1	241946598	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	24089995	241946598	7304023	18	35636											
CEBPZ	10153	genome.wustl.edu	37	chr2	37455900	37455900	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcatcagaatgtggttCtggcctattcttatttttca	8	19	6	8	0	5	1	3	0	3	1	6	1	5	1	1	2	0	1	1	2	3	7			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:37455900C>A	ENST00000234170.5	-	2	581	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	NDUFAF7_ENST00000336237.6_5'Flank|NDUFAF7_ENST00000002125.4_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	146					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)				GAATGTGGTTCTGGCCTATTC	0.323																																																	0													136	136	136					2																	37455900		2203	4300	6503	SO:0001587	stop_gained	0			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.436G>T	2.37:g.37455900C>A	ENSP00000234170:p.Glu146*		Q8NE75	Nonsense_Mutation	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.E146*	ENST00000234170.5	37	c.436	CCDS1787.1	2	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619703	0.28801	.	.	ENSG00000115816	ENST00000234170;ENST00000545744;ENST00000446769	.	.	.	5.65	4.77	0.60923	.	0.746815	0.13061	N	0.416866	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.7141	0.88331	0.0:0.9349:0.0:0.0651	.	.	.	.	X	146;146;97	.	ENSP00000234170:E146X	E	-	1	0	CEBPZ	37309404	0.013000	0.17824	0.268000	0.24571	0.034000	0.12701	0.647000	0.24812	0.742000	0.32697	-0.797000	0.03246	GAA	CEBPZ	-	NULL	ENSG00000115816		0.323	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2		0	73	0	C	NM_005760		37455900	-1			no_errors	ENST00000234170	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	0.582	A	A	37455900	C	A	37455900	4	1	140	1	0	0	0	0	0	1	0	0	3211	922	32	3	2788	3	CEBPZ	2	37455900	Nonsense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09		37455900	205743473	19	35637											
C2orf56	55471	genome.wustl.edu	37	chr2	37464913	37464913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagctactaggtatatGgttcattagtgaatggatgg	11	14	11	5	0	2	1	2	1	0	0	2	2	2	2	0	4	2	3	0	4	6	7			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:37464913G>T	ENST00000002125.4	+	4	351	c.311G>T	c.(310-312)tGg>tTg	p.W104L	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.W77L|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	104					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)										CTAGGTATATGGTTCATTAGT	0.378																																																	0													46	53	51					2																	37464913		2203	4300	6503	SO:0001583	missense	0				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.311G>T	2.37:g.37464913G>T	ENSP00000002125:p.Trp104Leu		Q7Z399|Q9P1G3	Missense_Mutation	SNP	pfam_MidA	p.W104L	ENST00000002125.4	37	c.311	CCDS1788.1	2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756518	0.89843	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000416653;ENST00000439218;ENST00000432075	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92945	0.7755	H	0.97540	4.025	0.39695	D	0.971107	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.95388	0.8479	10	0.87932	D	0	-11.0493	19.6772	0.95941	0.0:0.0:1.0:0.0	.	77;104;77;104	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	L	104;77;25;62;62;62	ENSP00000002125:W104L;ENSP00000337431:W77L;ENSP00000399207:W25L;ENSP00000410181:W62L;ENSP00000394436:W62L;ENSP00000402959:W62L	ENSP00000002125:W104L	W	+	2	0	C2orf56	37318417	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.519000	0.90563	2.656000	0.90262	0.655000	0.94253	TGG	NDUFAF7	-	pfam_MidA	ENSG00000003509		0.378	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF7	HGNC	protein_coding	OTTHUMT00000250267.1		0	36	0	G	NM_144736		37464913	1			no_errors	ENST00000002125	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	37464913	G	T	37464913	3	4	140	1	0	0	0	0	1	0	0	0	2184	1357	47	3	325	3	C2orf56	2	37464913	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	9013	37464913	205734460	20	35638											
MRPL19	9801	genome.wustl.edu	37	chr2	75882395	75882395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatatggaaggaaattgaagCgtcgaaaaggtcttgattct	15	11	11	4	2	2	2	0	2	2	0	3	5	2	4	0	3	1	0	0	3	7	4	rs377063877		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:75882395C>A	ENST00000393909.2	+	6	888	c.863C>A	c.(862-864)gCg>gAg	p.A288E	MRPL19_ENST00000409374.1_Missense_Mutation_p.A288E|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	288					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						GAAATTGAAGCGTCGAAAAGG	0.338																																																	0													70	65	67					2																	75882395		1835	4079	5914	SO:0001583	missense	0			AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"Mitochondrial ribosomal proteins / large subunits"	14052	protein-coding gene	gene with protein product	"39S ribosomal protein L19"	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.863C>A	2.37:g.75882395C>A	ENSP00000377486:p.Ala288Glu		Q53TX9|Q96Q52	Missense_Mutation	SNP	pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19	p.A288E	ENST00000393909.2	37	c.863	CCDS1960.2	2	.	.	.	.	.	.	.	.	.	.	C	8.956	0.969427	0.18659	.	.	ENSG00000115364	ENST00000393909;ENST00000409374;ENST00000453233	.	.	.	5.12	5.12	0.69794	.	0.158220	0.56097	D	0.000036	T	0.38746	0.1052	N	0.16130	0.375	0.80722	D	1	B	0.21753	0.06	B	0.18263	0.021	T	0.22661	-1.0210	9	0.14656	T	0.56	-21.2886	14.4358	0.67279	0.0:1.0:0.0:0.0	.	288	P49406	RM19_HUMAN	E	288;288;75	.	ENSP00000377486:A288E	A	+	2	0	MRPL19	75735903	0.885000	0.30320	0.980000	0.43619	0.063000	0.16089	0.848000	0.27710	2.549000	0.85964	0.655000	0.94253	GCG	MRPL19	-	NULL	ENSG00000115364		0.338	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL19	HGNC	protein_coding	OTTHUMT00000252256.1		0	55	0	C	NM_014763		75882395	1			no_errors	ENST00000393909	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.982	A	A	75882395	C	A	75882395	3	1	140	1	0	0	0	0	1	0	0	0	9822	768	27	2	885	2	MRPL19	2	75882395	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	38417482	75882395	167316978	21	35639											
MGAT5	4249	genome.wustl.edu	37	chr2	135206251	135206251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgccaaagctcagagctgGccaaggacatcctggtgccc	9	6	11	15	0	1	1	1	0	0	1	2	2	2	2	5	3	4	2	5	3	2	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:135206251G>A	ENST00000409645.1	+	17	2311	c.2059G>A	c.(2059-2061)Gcc>Acc	p.A687T	MGAT5_ENST00000281923.2_Missense_Mutation_p.A687T			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	687					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CTCAGAGCTGGCCAAGGACAT	0.557																																																	0													212	206	208					2																	135206251		2203	4300	6503	SO:0001583	missense	0			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2059G>A	2.37:g.135206251G>A	ENSP00000386377:p.Ala687Thr		D3DP70	Missense_Mutation	SNP	NULL	p.A687T	ENST00000409645.1	37	c.2059	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510601	0.27036	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.09	4.18	0.49190	.	0.251585	0.46442	D	0.000292	T	0.47078	0.1426	L	0.40543	1.245	0.42845	D	0.994068	B	0.28291	0.206	B	0.25291	0.059	T	0.37526	-0.9702	9	0.20519	T	0.43	-4.8993	14.7381	0.69430	0.0:0.0:0.8495:0.1504	.	687	Q09328	MGT5A_HUMAN	T	687	.	ENSP00000281923:A687T	A	+	1	0	MGAT5	134922721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.551000	0.53698	1.215000	0.43411	0.655000	0.94253	GCC	MGAT5	-	NULL	ENSG00000152127		0.557	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	HGNC	protein_coding	OTTHUMT00000254584.3		0	46	0	G	NM_002410		135206251	1			no_errors	ENST00000281923	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	A	A	135206251	G	A	135206251	3	1	140	1	0	0	0	0	1	0	0	0	9586	1203	42	3	2121	3	MGAT5	2	135206251	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	59323856	135206251	107993122	22	35640											
LRP1B	53353	genome.wustl.edu	37	chr2	141459770	141459770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaacatatccacattgcttCctgacagcaccatctcgcga	13	9	5	14	2	1	1	0	1	1	0	4	2	3	1	3	0	3	2	3	0	3	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:141459770C>A	ENST00000389484.3	-	39	7213	c.6242G>T	c.(6241-6243)gGa>gTa	p.G2081V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2081					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)		CACATTGCTTCCTGACAGCAC	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													198	172	181					2																	141459770		2203	4300	6503	SO:0001583	missense	0			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.6242G>T	2.37:g.141459770C>A	ENSP00000374135:p.Gly2081Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G2081V	ENST00000389484.3	37	c.6242	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098289	0.56183	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.5	5.5	0.81552	Six-bladed beta-propeller, TolB-like (1);	0.248535	0.31872	U	0.006925	D	0.89139	0.6630	L	0.53561	1.675	0.54753	D	0.999984	B	0.24721	0.11	B	0.16722	0.016	D	0.85848	0.1402	10	0.52906	T	0.07	.	19.388	0.94565	0.0:1.0:0.0:0.0	.	2081	Q9NZR2	LRP1B_HUMAN	V	2081;2019	ENSP00000374135:G2081V	ENSP00000374135:G2081V	G	-	2	0	LRP1B	141176240	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.076000	0.41548	2.586000	0.87340	0.563000	0.77884	GGA	LRP1B	-	smart_LDLR_classB_rpt	ENSG00000168702		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2		0	12	0	C	NM_018557		141459770	-1			no_errors	ENST00000389484	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	A	A	141459770	C	A	141459770	3	1	140	1	0	0	0	0	1	0	0	0	8990	855	30	3	7769	3	LRP1B	2	141459770	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	6253519	141459770	101739603	23	35641											
ZDBF2	57683	genome.wustl.edu	37	chr2	207175899	207175899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagtcaatttggattcGgaccaaaccaagtgatatca	16	9	8	8	1	2	1	2	1	0	0	3	4	2	3	2	2	2	0	2	2	5	3	rs199913989		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:207175899G>A	ENST00000374423.3	+	5	7033	c.6647G>A	c.(6646-6648)cGg>cAg	p.R2216Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2216							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						ATTTGGATTCGGACCAAACCA	0.358													G|||	1	0.000199681	8e-04	0	5008	,	,		18930	0		0	False		,,,				2504	0																0								G	GLN/ARG	8,3610		0,8,1801	42	42	42		6647	-1.9	0	2		42	1,8163		0,1,4081	yes	missense	ZDBF2	NM_020923.1	43	0,9,5882	AA,AG,GG		0.0122,0.2211,0.0764	benign	2216/2355	207175899	9,11773	1809	4082	5891	SO:0001583	missense	0			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.6647G>A	2.37:g.207175899G>A	ENSP00000363545:p.Arg2216Gln		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.R2216Q	ENST00000374423.3	37	c.6647	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	1.839	-0.467877	0.04476	0.002211	1.22E-4	ENSG00000204186	ENST00000374423	T	0.40225	1.04	5.46	-1.9	0.07665	.	.	.	.	.	T	0.10035	0.0246	N	0.00583	-1.355	0.09310	N	1	B	0.24721	0.11	B	0.13407	0.009	T	0.31779	-0.9931	9	0.10377	T	0.69	.	6.7391	0.23424	0.511:0.2261:0.2629:0.0	.	2216	Q9HCK1	ZDBF2_HUMAN	Q	2216	ENSP00000363545:R2216Q	ENSP00000363545:R2216Q	R	+	2	0	ZDBF2	206884144	0.001000	0.12720	0.028000	0.17463	0.069000	0.16628	-0.357000	0.07651	-0.639000	0.05502	-0.150000	0.13652	CGG	ZDBF2	-	NULL	ENSG00000204186		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1		0	30	0	G	NM_020923		207175899	1			no_errors	ENST00000374423	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.000	A	A	207175899	G	A	207175899	3	1	140	1	0	0	0	0	1	0	0	0	17647	1116	39	1	6657	1	ZDBF2	2	207175899	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	65716129	207175899	36023474	24	35642											
GIGYF2	26058	genome.wustl.edu	37	chr2	233655987	233655987	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagctagtgaggaaactccCcagacctcatcatcatctgc	12	8	8	13	0	4	2	3	1	1	1	5	4	5	3	3	1	3	1	3	1	3	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:233655987C>A	ENST00000409547.1	+	14	1424	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P	GIGYF2_ENST00000409451.3_Silent_p.P392P|GIGYF2_ENST00000452341.2_Silent_p.P202P|GIGYF2_ENST00000409196.3_Silent_p.P365P|GIGYF2_ENST00000373563.4_Silent_p.P371P|GIGYF2_ENST00000373566.3_Silent_p.P393P|GIGYF2_ENST00000409480.1_Silent_p.P393P	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	371					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)		AGGAAACTCCCCAGACCTCAT	0.433																																																	0													108	104	105					2																	233655987		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1113C>A	2.37:g.233655987C>A			A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.P393	ENST00000409547.1	37	c.1179	CCDS33401.1	2																																																																																			GIGYF2	-	NULL	ENSG00000204120		0.433	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2		0	45	0	C	NM_001103146		233655987	1			no_errors	ENST00000373566	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.000	A	A	233655987	C	A	233655987	2	1	140	1	0	0	0	0	0	0	0	1	6404	610	22	3		3	GIGYF2	2	233655987	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	26480088	233655987	9543386	25	35643											
COL6A3	1293	genome.wustl.edu	37	chr2	238285682	238285682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcactccatcctcgatccGgctgccagcagacttcacaa	11	7	7	16	2	1	1	1	0	0	1	5	2	4	1	4	1	3	3	4	1	2	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:238285682G>A	ENST00000295550.4	-	7	3255	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	COL6A3_ENST00000347401.3_Missense_Mutation_p.R734W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R735W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R328W|COL6A3_ENST00000392003.2_Missense_Mutation_p.R528W|COL6A3_ENST00000392004.3_Missense_Mutation_p.R729W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R729W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R729W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	935	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCTCGATCCGGCTGCCAGCA	0.547																																																	0													95	80	85					2																	238285682		2203	4300	6503	SO:0001583	missense	0			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.2803C>T	2.37:g.238285682G>A	ENSP00000295550:p.Arg935Trp		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R935W	ENST00000295550.4	37	c.2803	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341024	0.60963	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.55	4.59	0.56863	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000059	T	0.80859	0.4704	M	0.93241	3.395	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	0.85232	0.1033	10	0.87932	D	0	.	13.0874	0.59149	0.0:0.0:0.757:0.243	.	735;328;528;729;729;935	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	W	935;734;729;328;729;735;729;528	ENSP00000295550:R935W;ENSP00000315609:R734W;ENSP00000315873:R729W;ENSP00000418285:R328W;ENSP00000386844:R729W;ENSP00000295546:R735W;ENSP00000375861:R729W;ENSP00000375860:R528W	ENSP00000295550:R935W	R	-	1	2	COL6A3	237950421	1.000000	0.71417	0.996000	0.52242	0.222000	0.24845	3.814000	0.55643	2.610000	0.88304	0.655000	0.94253	CGG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0	20	0	G	NM_004369		238285682	-1			no_errors	ENST00000295550	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	A	A	238285682	G	A	238285682	3	1	140	1	0	0	0	0	1	0	0	0	3708	1115	39	1	6929	1	COL6A3	2	238285682	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	4629695	238285682	4913691	26	35644											
ZNF501	115560	genome.wustl.edu	37	chr3	44776031	44776031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagatcatctcttacccagCaccagaggattcacagagga	14	7	9	11	0	3	3	2	0	1	3	4	6	3	5	2	2	2	1	2	2	1	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr3:44776031C>A	ENST00000396048.2	+	3	555	c.118C>A	c.(118-120)Cac>Aac	p.H40N		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TCTTACCCAGCACCAGAGGAT	0.413																																																	0													93	101	98					3																	44776031		2172	4289	6461	SO:0001583	missense	0			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"Zinc fingers, C2H2-type"	23717	protein-coding gene	gene with protein product			"zinc finger protein 52"	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.118C>A	3.37:g.44776031C>A	ENSP00000379363:p.His40Asn		B4DLY7|Q96NU9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H40N	ENST00000396048.2	37	c.118	CCDS2720.2	3	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947388	0.73672	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	D	0.86865	-2.18	2.4	2.4	0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94115	0.8113	H	0.95950	3.745	0.34792	D	0.735881	D;D	0.63880	0.993;0.989	P;P	0.58577	0.841;0.78	D	0.97256	0.9901	9	0.87932	D	0	.	12.5952	0.56465	0.0:1.0:0.0:0.0	.	40;40	Q96CX3-2;Q96CX3	.;ZN501_HUMAN	N	40	ENSP00000379363:H40N	ENSP00000330388:H40N	H	+	1	0	ZNF501	44751035	0.999000	0.42202	0.878000	0.34440	0.891000	0.51852	5.152000	0.64882	1.655000	0.50712	0.563000	0.77884	CAC	ZNF501	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186446		0.413	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF501	HGNC	protein_coding	OTTHUMT00000256654.4		0	34	0	C	NM_145044		44776031	1			no_errors	ENST00000396048	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.996	A	A	44776031	C	A	44776031	3	1	140	1	0	0	0	0	1	0	0	0	17997	710	25	3	120	3	ZNF501	3	44776031	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09		44776031	153246399	27	35645											
CCR9	10803	genome.wustl.edu	37	chr3	45943257	45943257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgagagattccgccGggatctcgtgaaaaccctga	9	9	14	9	3	1	4	0	3	1	1	3	6	2	5	3	2	1	0	3	2	2	1	rs201410158		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr3:45943257G>A	ENST00000357632.2	+	3	1157	c.977G>A	c.(976-978)cGg>cAg	p.R326Q	CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.R314Q|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.R314Q	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	326					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)		AGATTCCGCCGGGATCTCGTG	0.507																																																	0													93	89	91					3																	45943257		2203	4300	6503	SO:0001583	missense	0			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.977G>A	3.37:g.45943257G>A	ENSP00000350256:p.Arg326Gln		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4	p.R326Q	ENST00000357632.2	37	c.977	CCDS2732.1	3	.	.	.	.	.	.	.	.	.	.	G	9.708	1.156385	0.21454	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.38240	1.15;1.15;1.15	4.96	2.15	0.27550	.	0.335227	0.27725	N	0.018107	T	0.17280	0.0415	L	0.29908	0.895	0.29538	N	0.852312	P	0.35411	0.5	B	0.23150	0.044	T	0.08743	-1.0707	10	0.23891	T	0.37	.	5.1887	0.15197	0.2796:0.0:0.5624:0.1579	.	326	P51686	CCR9_HUMAN	Q	326;314;314	ENSP00000350256:R326Q;ENSP00000379292:R314Q;ENSP00000348260:R314Q	ENSP00000348260:R314Q	R	+	2	0	CCR9	45918261	0.003000	0.15002	0.998000	0.56505	0.892000	0.51952	1.433000	0.34947	1.082000	0.41137	0.563000	0.77884	CGG	CCR9	-	prints_Chemokine_CCR9,prints_Chemokine_rcpt	ENSG00000173585		0.507	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	HGNC	protein_coding	OTTHUMT00000257323.2		0	19	0	G			45943257	1			no_errors	ENST00000357632	ensembl	human	known	74_37	missense	29.41	12	5	SNP	0.865	A	A	45943257	G	A	45943257	3	1	140	1	0	0	0	0	1	0	0	0	2955	1116	39	1	983	1	CCR9	3	45943257	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	1167226	45943257	152079173	28	35646											
AMOTL2	51421	genome.wustl.edu	37	chr3	134089587	134089587	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccgcgggcacggtacCgtgggtcagtgacagcagtg	6	6	18	11	4	1	1	1	1	0	0	1	1	1	1	2	4	3	4	2	4	1	1	rs569311001	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr3:134089587C>A	ENST00000422605.2	-	2	855	c.689G>T	c.(688-690)cGg>cTg	p.R230L	AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R230L|AMOTL2_ENST00000514516.1_Missense_Mutation_p.R288L|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R230L			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	230					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGCACGGTACCGTGGGTCAGT	0.617																																																	0													51	49	50					3																	134089587		2201	4299	6500	SO:0001583	missense	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.689G>T	3.37:g.134089587C>A	ENSP00000409999:p.Arg230Leu		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.R230L	ENST00000422605.2	37	c.689		3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121694	0.77436	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	4.69	4.69	0.59074	.	0.327565	0.31051	N	0.008351	T	0.36580	0.0972	L	0.53249	1.67	0.39339	D	0.965547	D;D;D	0.63046	0.992;0.992;0.987	D;D;D	0.72982	0.979;0.979;0.953	T	0.07578	-1.0765	10	0.25106	T	0.35	-34.9716	17.9901	0.89166	0.0:1.0:0.0:0.0	.	230;230;288	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	L	230;230;288;230	ENSP00000249883:R230L;ENSP00000409999:R230L;ENSP00000424765:R288L;ENSP00000425475:R230L	ENSP00000249883:R230L	R	-	2	0	AMOTL2	135572277	0.227000	0.23707	0.086000	0.20670	0.216000	0.24613	3.538000	0.53597	2.292000	0.77174	0.455000	0.32223	CGG	AMOTL2	-	NULL	ENSG00000114019		0.617	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1		0	33	0	C	NM_016201		134089587	-1			no_errors	ENST00000249883	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.518	A	A	134089587	C	A	134089587	3	1	140	1	0	0	0	0	1	0	0	0	584	652	23	2	1689	2	AMOTL2	3	134089587	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	88146330	134089587	63932843	29	35647											
CRMP1	1400	genome.wustl.edu	37	chr4	5830268	5830268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccgggaacgccttccgcGgaatgaagcggcccatgccc	7	5	13	16	5	0	1	0	1	0	0	2	3	2	3	5	3	3	1	5	3	3	1	rs370759908		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr4:5830268G>A	ENST00000397890.2	-	12	1623	c.1409C>T	c.(1408-1410)cCg>cTg	p.P470L	CRMP1_ENST00000324989.7_Missense_Mutation_p.P584L|CRMP1_ENST00000511535.1_5'UTR|EVC_ENST00000382674.2_3'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.P468L	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	470					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CGCCTTCCGCGGAATGAAGCG	0.597																																																	0								G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	140	102	115		1751,1409	4.3	1	4		115	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CRMP1	NM_001014809.1,NM_001313.3	98,98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	584/687,470/573	5830268	2,13004	2203	4300	6503	SO:0001583	missense	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1409C>T	4.37:g.5830268G>A	ENSP00000380987:p.Pro470Leu		A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.P584L	ENST00000397890.2	37	c.1751	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032110	0.75504	2.27E-4	1.16E-4	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	T;T;T	0.73789	-0.78;-0.78;-0.78	4.33	4.33	0.51752	Metal-dependent hydrolase, composite domain (1);	0.119068	0.64402	D	0.000017	T	0.79551	0.4465	M	0.88775	2.98	0.80722	D	1	P;D;P;D	0.69078	0.942;0.997;0.947;0.975	B;B;B;B	0.43301	0.337;0.415;0.087;0.301	D	0.86078	0.1542	10	0.87932	D	0	-30.94	15.9993	0.80280	0.0:0.0:1.0:0.0	.	584;468;470;407	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	L	584;470;470;468	ENSP00000321606:P584L;ENSP00000380987:P470L;ENSP00000425742:P468L	ENSP00000321606:P584L	P	-	2	0	CRMP1	5881169	1.000000	0.71417	0.963000	0.40424	0.271000	0.26615	7.350000	0.79385	2.245000	0.73994	0.561000	0.74099	CCG	CRMP1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000072832		0.597	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1		0	49	0	G	NM_001313		5830268	-1			no_errors	ENST00000324989	ensembl	human	known	74_37	missense	35.00	26	14	SNP	1.000	A	A	5830268	G	A	5830268	3	1	140	1	0	0	0	0	1	0	0	0	3897	1116	39	1	321	1	CRMP1	4	5830268	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09		5830268	185324008	30	35648											
TADA2B	93624	genome.wustl.edu	37	chr4	7056529	7056529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggacggcaaagacagCgagttcgccgccattgagaa	14	4	14	9	4	0	2	0	1	0	2	1	6	0	4	2	3	1	2	2	3	3	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr4:7056529C>T	ENST00000310074.7	+	2	1200	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	TADA2B_ENST00000515646.1_Silent_p.S245S|TADA2B_ENST00000512388.1_Silent_p.S262S	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	337					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						GCAAAGACAGCGAGTTCGCCG	0.567																																																	0													66	75	72					4																	7056529		1990	4155	6145	SO:0001819	synonymous_variant	0			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.1011C>T	4.37:g.7056529C>T			A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.S337	ENST00000310074.7	37	c.1011	CCDS47007.1	4																																																																																			TADA2B	-	superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2	ENSG00000173011		0.567	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2		0	16	0	C	NM_152293		7056529	1			no_errors	ENST00000310074	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.906	T	T	7056529	C	T	7056529	2	4	140	1	0	0	0	0	0	0	0	1	15558	767	27	1		1	TADA2B	4	7056529	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	1226261	7056529	184097747	31	35649											
PDGFRA	5156	genome.wustl.edu	37	chr4	55133523	55133523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	caaattggtgtacactttgaCggtccccgaggccacggtga	9	9	12	11	3	0	2	0	2	0	0	1	3	1	2	3	4	1	1	3	4	2	3	rs142492533		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr4:55133523C>T	ENST00000257290.5	+	6	1158	c.827C>T	c.(826-828)aCg>aTg	p.T276M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	276	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TACACTTTGACGGTCCCCGAG	0.468			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	94	95	95		827	-2.4	0	4	dbSNP_134	95	0,8600		0,0,4300	no	missense	PDGFRA	NM_006206.4	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	276/1090	55133523	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.827C>T	4.37:g.55133523C>T	ENSP00000257290:p.Thr276Met		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T276M	ENST00000257290.5	37	c.827	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938558	0.34189	2.27E-4	0.0	ENSG00000134853	ENST00000257290	T	0.69806	-0.43	5.67	-2.37	0.06643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.529761	0.13620	U	0.374486	T	0.56441	0.1985	L	0.61387	1.9	0.48341	D	0.999631	B;B	0.24132	0.098;0.06	B;B	0.28638	0.092;0.025	T	0.30387	-0.9980	10	0.34782	T	0.22	.	4.8135	0.13354	0.1745:0.5043:0.2013:0.1199	.	276;276	P16234-3;P16234	.;PGFRA_HUMAN	M	276	ENSP00000257290:T276M	ENSP00000257290:T276M	T	+	2	0	PDGFRA	54828280	0.001000	0.12720	0.002000	0.10522	0.984000	0.73092	-0.127000	0.10547	-1.008000	0.03404	0.313000	0.20887	ACG	PDGFRA	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134853		0.468	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2		0	35	0	C	NM_006206		55133523	1			no_errors	ENST00000257290	ensembl	human	known	74_37	missense	40.74	16	11	SNP	0.057	T	T	55133523	C	T	55133523	3	4	140	1	0	0	0	0	1	0	0	0	11700	536	19	1	845	1	PDGFRA	4	55133523	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	48076994	55133523	136020753	32	35650											
DCHS2	54798	genome.wustl.edu	37	chr4	155278439	155278439	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttgtctgctgaaaagttGacagcactcagaatttctac	11	13	7	10	0	3	3	1	2	2	1	4	3	4	3	1	0	3	3	1	0	4	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr4:155278439G>A	ENST00000357232.4	-	6	731	c.732C>T	c.(730-732)gtC>gtT	p.V244V	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	244	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctgaaaagttgacagcactca	0.428																																																	0													113	118	116					4																	155278439		2203	4300	6503	SO:0001819	synonymous_variant	0			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.732C>T	4.37:g.155278439G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V244	ENST00000357232.4	37	c.732	CCDS3785.1	4																																																																																			DCHS2	-	pfscan_Cadherin	ENSG00000197410		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2		0	70	0	G	NM_001142552		155278439	-1			no_errors	ENST00000357232	ensembl	human	known	74_37	silent	26.56	47	17	SNP	0.003	A	A	155278439	G	A	155278439	2	1	140	1	0	0	0	0	0	0	0	1	4297	1277	45	3		3	DCHS2	4	155278439	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	100144916	155278439	35875837	33	35651											
ADAM29	11086	genome.wustl.edu	37	chr4	175898847	175898847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaaaaaattcagcgtcGacctcatgagttacctcccc	13	8	8	12	2	2	2	2	1	0	1	4	4	3	3	4	1	2	1	4	1	4	2	rs150256322		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr4:175898847G>T	ENST00000359240.3	+	5	2841	c.2171G>T	c.(2170-2172)cGa>cTa	p.R724L	ADAM29_ENST00000514159.1_Missense_Mutation_p.R724L|ADAM29_ENST00000404450.4_Missense_Mutation_p.R724L|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.R724L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	724					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)		ATTCAGCGTCGACCTCATGAG	0.443																																					Ovarian(140;1727 1835 21805 25838 41440)												0													93	89	90					4																	175898847		2203	4300	6503	SO:0001583	missense	0			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.2171G>T	4.37:g.175898847G>T	ENSP00000352177:p.Arg724Leu		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R724L	ENST00000359240.3	37	c.2171	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	G	0.923	-0.715132	0.03206	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01963	4.53;4.53;4.53;4.53	1.24	-2.48	0.06423	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45920	-0.9228	8	.	.	.	.	0.015	0.00002	0.2713:0.2051:0.2017:0.3218	.	724	Q9UKF5	ADA29_HUMAN	L	724	ENSP00000352177:R724L;ENSP00000414544:R724L;ENSP00000384229:R724L;ENSP00000423517:R724L	.	R	+	2	0	ADAM29	176135422	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.832000	0.00743	-2.502000	0.00509	-1.322000	0.01289	CGA	ADAM29	-	NULL	ENSG00000168594		0.443	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding			0	52	0	G			175898847	1			no_errors	ENST00000359240	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.000	T	T	175898847	G	T	175898847	3	4	140	1	0	0	0	0	1	0	0	0	247	1058	37	2	2173	2	ADAM29	4	175898847	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	20620408	175898847	15255429	34	35652											
UGT3A1	133688	genome.wustl.edu	37	chr5	35954308	35954308	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	aaggctacacctagcctcatGtcttcttcaccttcctggcc	7	12	6	16	0	4	0	2	0	2	0	5	0	5	0	5	2	2	1	5	2	3	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:35954308G>A	ENST00000274278.3	-	7	1925	c.1568C>T	c.(1567-1569)aCa>aTa	p.T523I	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	523						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)			CTAGCCTCATGTCTTCTTCAC	0.607																																																	0													85	74	78					5																	35954308		2203	4300	6503	SO:0001583	missense	0				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.1568C>T	5.37:g.35954308G>A	ENSP00000274278:p.Thr523Ile		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T523I	ENST00000274278.3	37	c.1568	CCDS3913.1	5	.	.	.	.	.	.	.	.	.	.	.	13.34	2.208545	0.39003	.	.	ENSG00000145626	ENST00000274278	T	0.60040	0.22	3.76	0.904	0.19302	.	11.559400	0.01753	U	0.030043	T	0.43211	0.1237	N	0.08118	0	0.09310	N	1	P	0.51791	0.948	P	0.45037	0.467	T	0.42120	-0.9470	10	0.87932	D	0	.	7.0543	0.25091	0.3117:0.0:0.6883:0.0	.	523	Q6NUS8	UD3A1_HUMAN	I	523	ENSP00000274278:T523I	ENSP00000274278:T523I	T	-	2	0	UGT3A1	35990065	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.032000	0.13732	0.038000	0.15604	0.411000	0.27672	ACA	UGT3A1	-	NULL	ENSG00000145626		0.607	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A1	HGNC	protein_coding	OTTHUMT00000253770.2		0	37	0	G	NM_152404		35954308	-1			no_errors	ENST00000274278	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.000	A	A	35954308	G	A	35954308	3	1	140	1	0	0	0	0	1	0	0	0	17012	1377	48	3	7	3	UGT3A1	5	35954308	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09		35954308	144960952	35	35653											
GZMA	3001	genome.wustl.edu	37	chr5	54405875	54405875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggaagccctttgttgtgCgagggtgttttccgaggggt	4	14	16	7	2	1	0	0	0	1	0	2	3	2	1	2	4	2	2	2	4	1	4	rs374569624		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:54405875C>T	ENST00000274306.6	+	5	689	c.654C>T	c.(652-654)tgC>tgT	p.C218C		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	218	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.C218C(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTTTGTTGTGCGAGGGTGTTT	0.488																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)						C		0,4406		0,0,2203	96	93	94		654	-3.9	0	5		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GZMA	NM_006144.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		218/263	54405875	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"CTL tryptase", "Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.654C>T	5.37:g.54405875C>T			A4PHN1|Q6IB36	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.C218	ENST00000274306.6	37	c.654	CCDS3965.1	5																																																																																			GZMA	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000145649		0.488	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMA	HGNC	protein_coding	OTTHUMT00000214100.2		0	77	0	C	NM_006144		54405875	1			no_errors	ENST00000274306	ensembl	human	known	74_37	silent	20.59	54	14	SNP	0.014	T	T	54405875	C	T	54405875	2	4	140	1	0	0	0	0	0	0	0	1	6942	776	27	1		1	GZMA	5	54405875	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	18451567	54405875	126509385	36	35654											
IQGAP2	10788	genome.wustl.edu	37	chr5	75970313	75970313	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcactccagattgttggaaaCctcctgtactatcggtacat	10	13	7	11	1	1	1	1	0	0	1	4	2	3	2	3	2	3	3	3	2	4	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:75970313C>T	ENST00000274364.6	+	27	3603	c.3306C>T	c.(3304-3306)aaC>aaT	p.N1102N	IQGAP2_ENST00000379730.3_Silent_p.N604N|IQGAP2_ENST00000502745.1_Silent_p.N598N|IQGAP2_ENST00000396234.3_Silent_p.N598N	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1102	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)		TTGTTGGAAACCTCCTGTACT	0.378																																																	0													71	63	66					5																	75970313		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3306C>T	5.37:g.75970313C>T			A8K4V1|B7Z8A4|J3KR91	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.N1102	ENST00000274364.6	37	c.3306	CCDS34188.1	5																																																																																			IQGAP2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000145703		0.378	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1		0	39	0	C	NM_006633		75970313	1			no_errors	ENST00000274364	ensembl	human	known	74_37	silent	10.00	35	4	SNP	1.000	T	T	75970313	C	T	75970313	2	4	140	1	0	0	0	0	0	0	0	1	7842	506	18	3		3	IQGAP2	5	75970313	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	21564438	75970313	104944947	37	35655											
FTMT	94033	genome.wustl.edu	37	chr5	121188111	121188111	+	Silent	SNP	C	C	T	0	0	0	1	1	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	atcaagaagccggaacaggaCgactgggaaagcgggctgca	14	3	15	9	3	1	1	1	0	0	1	1	5	1	4	1	4	4	2	1	4	4	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:121188111C>T	ENST00000321339.1	+	1	462	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	151	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.D151D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGGAACAGGACGACTGGGAAA	0.582																																																	1	Substitution - coding silent(1)	large_intestine(1)											89	88	88					5																	121188111		2203	4300	6503	SO:0001819	synonymous_variant	0			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.453C>T	5.37:g.121188111C>T				Silent	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.D151	ENST00000321339.1	37	c.453	CCDS4128.1	5																																																																																			FTMT	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	ENSG00000181867		0.582	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	HGNC	protein_coding	OTTHUMT00000250884.1		0	31	0	C	NM_177478		121188111	1			no_errors	ENST00000321339	ensembl	human	known	74_37	silent	43.33	17	13	SNP	0.303	T	T	121188111	C	T	121188111	2	4	140	1	0	0	0	0	0	0	0	1	6109	535	19	1		1	FTMT	5	121188111	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	45217798	121188111	59727149	38	35656											
CTNNA1	1495	genome.wustl.edu	37	chr5	138160336	138160336	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tacagcaccctgatgtcgcaGcctataaggccaacagggac	12	6	10	13	1	0	1	0	1	0	0	1	2	0	2	3	2	4	2	3	2	4	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:138160336G>T	ENST00000302763.7	+	6	796	c.706G>T	c.(706-708)Gcc>Tcc	p.A236S	CTNNA1_ENST00000355078.5_Missense_Mutation_p.A133S|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A236S	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	236					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)			TGATGTCGCAGCCTATAAGGC	0.557																																																	0													77	73	74					5																	138160336		2203	4300	6503	SO:0001583	missense	0			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.706G>T	5.37:g.138160336G>T	ENSP00000304669:p.Ala236Ser		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.A236S	ENST00000302763.7	37	c.706	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691902	0.68271	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000518910;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	N	0.17312	0.475	0.80722	D	1	B;B	0.19935	0.04;0.025	B;B	0.40199	0.073;0.322	T	0.06250	-1.0837	10	0.02654	T	1	-10.9845	19.1866	0.93647	0.0:0.0:1.0:0.0	.	236;236	G3XAM7;P35221	.;CTNA1_HUMAN	S	133;236;133;236;221;236	ENSP00000347190:A133S;ENSP00000304669:A236S;ENSP00000430626:A133S;ENSP00000427821:A236S	ENSP00000304669:A236S	A	+	1	0	CTNNA1	138188235	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.636000	0.89361	0.491000	0.48974	GCC	CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000044115		0.557	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1		0	26	0	G	NM_001903		138160336	1			no_errors	ENST00000302763	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T	T	138160336	G	T	138160336	3	4	140	1	0	0	0	0	1	0	0	0	4021	971	34	3	724	3	CTNNA1	5	138160336	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	16972225	138160336	42754924	39	35657											
PCDHA4	56144	genome.wustl.edu	37	chr5	140188574	140188574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcgcggtggatgctgactCgggctacaacgcgtggcttt	5	9	16	11	6	0	1	0	1	0	0	1	2	0	2	0	4	3	3	0	4	2	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:140188574C>T	ENST00000530339.1	+	1	1802	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L	PCDHA4_ENST00000512229.2_Missense_Mutation_p.S601L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S601L	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCTGACTCGGGCTACAAC	0.687																																																	0													128	115	119					5																	140188574		2203	4299	6502	SO:0001583	missense	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1802C>T	5.37:g.140188574C>T	ENSP00000435300:p.Ser601Leu		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S601L	ENST00000530339.1	37	c.1802	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	c	14.69	2.610012	0.46527	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.49432	0.78;0.78;0.78	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	0.216774	0.23209	N	0.050686	T	0.70509	0.3232	M	0.80982	2.52	0.21861	N	0.999507	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.927;0.983;0.997	T	0.65569	-0.6136	10	0.87932	D	0	.	16.6588	0.85236	0.0:1.0:0.0:0.0	.	601;601;601	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	601	ENSP00000423470:S601L;ENSP00000349344:S601L;ENSP00000435300:S601L	ENSP00000349344:S601L	S	+	2	0	PCDHA4	140168758	0.000000	0.05858	0.643000	0.29450	0.434000	0.31775	0.898000	0.28404	2.006000	0.58801	0.484000	0.47621	TCG	PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.687	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2		0	125	0	C	NM_018907		140188574	1			no_errors	ENST00000530339	ensembl	human	known	74_37	missense	20.18	91	23	SNP	0.598	T	T	140188574	C	T	140188574	3	4	140	1	0	0	0	0	1	0	0	0	11565	893	31	1	1804	1	PCDHA4	5	140188574	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	2028238	140188574	40726686	40	35658											
PCDHA9	9752	genome.wustl.edu	37	chr5	140229376	140229376	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgcgggacgggggctcGccttcactgtgggccacggc	4	5	17	15	6	1	0	1	0	0	0	2	1	1	1	3	5	0	1	3	5	0	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:140229376G>A	ENST00000532602.1	+	1	2329	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.S432S|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	432	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|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)			ACGGGGGCTCGCCTTCACTGT	0.632																																					Melanoma(55;1800 1972 14909)												0													79	77	78					5																	140229376		2196	4269	6465	SO:0001819	synonymous_variant	0			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.1296G>A	5.37:g.140229376G>A			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S432	ENST00000532602.1	37	c.1296	CCDS54920.1	5																																																																																			PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204961		0.632	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2		0	131	0	G	NM_031857		140229376	1			no_errors	ENST00000532602	ensembl	human	known	74_37	silent	14.29	78	13	SNP	0.170	A	A	140229376	G	A	140229376	2	1	140	1	0	0	0	0	0	0	0	1	11570	1074	38	1		1	PCDHA9	5	140229376	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	40802	140229376	40685884	41	35659											
PCDHB15	56121	genome.wustl.edu	37	chr5	140626811	140626811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggtgctggacgccaaCgacaactcgcccttcgtgct	6	9	12	14	4	0	0	0	0	0	0	2	2	0	1	2	2	5	3	2	2	2	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:140626811C>T	ENST00000231173.3	+	1	1665	c.1665C>T	c.(1663-1665)aaC>aaT	p.N555N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	555	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)			TGGACGCCAACGACAACTCGC	0.716																																																	0													25	30	28					5																	140626811		2200	4292	6492	SO:0001819	synonymous_variant	0			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.1665C>T	5.37:g.140626811C>T			Q8IUX5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N555	ENST00000231173.3	37	c.1665	CCDS4257.1	5																																																																																			PCDHB15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113248		0.716	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2		0	153	0	C	NM_018935		140626811	1			no_errors	ENST00000231173	ensembl	human	known	74_37	silent	28.24	94	37	SNP	0.998	T	T	140626811	C	T	140626811	2	4	140	1	0	0	0	0	0	0	0	1	11579	535	19	1		1	PCDHB15	5	140626811	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	397435	140626811	40288449	42	35660											
PCDHGA11	56105	genome.wustl.edu	37	chr5	140800930	140800930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccgaaaagggctccttcGtgggcaatatctccaaggac	12	7	11	11	2	1	1	0	0	1	1	4	3	2	2	3	3	0	2	3	3	5	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:140800930G>A	ENST00000398587.2	+	1	169	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V46M|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	46	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(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTCCTTCGTGGGCAATAT	0.622																																																	0													38	45	43					5																	140800930		1992	4238	6230	SO:0001583	missense	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.136G>A	5.37:g.140800930G>A	ENSP00000381589:p.Val46Met		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V46M	ENST00000398587.2	37	c.136	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	g	18.18	3.565739	0.65651	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.54866	0.55;0.55	6.08	6.08	0.98989	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.26673	U	0.023088	D	0.87111	0.6096	H	0.99811	4.8	0.41325	D	0.987205	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.92441	0.5962	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	46;46;46	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	M	46	ENSP00000381589:V46M;ENSP00000428333:V46M	ENSP00000381589:V46M	V	+	1	0	PCDHGA11	140781114	1.000000	0.71417	0.989000	0.46669	0.188000	0.23474	5.791000	0.69045	2.894000	0.99253	0.591000	0.81541	GTG	PCDHGA11	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253873		0.622	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1		0	52	0	G	NM_018914		140800930	1			no_errors	ENST00000398587	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	A	A	140800930	G	A	140800930	3	1	140	1	0	0	0	0	1	0	0	0	11591	1145	40	1	138	1	PCDHGA11	5	140800930	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	174119	140800930	40114330	43	35661											
PCDHGC5	56097	genome.wustl.edu	37	chr5	140869747	140869747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccatagactttgaggagtcaCgtttctatgaaattcatgca	12	13	8	8	1	3	3	2	2	1	1	3	4	3	4	1	1	1	2	1	1	3	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:140869747C>T	ENST00000252087.1	+	1	940	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGAGTCACGTTTCTATGA	0.527																																																	0													84	82	83					5																	140869747		2203	4300	6503	SO:0001583	missense	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.940C>T	5.37:g.140869747C>T	ENSP00000252087:p.Arg314Cys		Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R314C	ENST00000252087.1	37	c.940	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	C	4.200	0.035878	0.08148	.	.	ENSG00000240764	ENST00000252087	T	0.01767	4.65	5.95	0.697	0.18081	Cadherin (4);Cadherin-like (1);	0.481200	0.21337	N	0.076194	T	0.02767	0.0083	M	0.71296	2.17	0.09310	N	1	D;P	0.57571	0.98;0.666	B;B	0.43916	0.429;0.436	T	0.41610	-0.9499	10	0.66056	D	0.02	.	4.6369	0.12528	0.4689:0.3553:0.0635:0.1123	.	314;314	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	C	314	ENSP00000252087:R314C	ENSP00000252087:R314C	R	+	1	0	PCDHGC5	140849931	0.000000	0.05858	0.899000	0.35326	0.000000	0.00434	1.199000	0.32235	-0.093000	0.12396	-1.533000	0.00918	CGT	PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240764		0.527	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1		0	28	0	C	NM_018929		140869747	1			no_errors	ENST00000252087	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.006	T	T	140869747	C	T	140869747	3	4	140	1	0	0	0	0	1	0	0	0	11610	536	19	1	942	1	PCDHGC5	5	140869747	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	68817	140869747	40045513	44	35662											
TULP1	7287	genome.wustl.edu	37	chr6	35477490	35477490	+	Silent	SNP	T	T	C	0	1	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	gggctcttcctcgcactggcTgggctccctgaggggtcctt	2	11	14	14	1	1	1	0	1	1	0	5	1	4	1	3	5	0	4	3	5	0	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:35477490T>C	ENST00000229771.6	-	7	718	c.639A>G	c.(637-639)ccA>ccG	p.P213P	TULP1_ENST00000322263.4_Silent_p.P160P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	213					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						TCGCACTGGCTGGGCTCCCTG	0.602																																					GBM(55;1027 1091 11115 23439)												0													96	98	97					6																	35477490		2203	4300	6503	SO:0001819	synonymous_variant	0			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.639A>G	6.37:g.35477490T>C			O43536|Q5TGM5|Q8N571	Silent	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	p.P213	ENST00000229771.6	37	c.639	CCDS4807.1	6																																																																																			TULP1	-	NULL	ENSG00000112041		0.602	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP1	HGNC	protein_coding	OTTHUMT00000040307.2		0	58	0	T			35477490	-1			no_errors	ENST00000229771	ensembl	human	known	74_37	silent	48.00	26	24	SNP	0.000	C	C	35477490	T	C	35477490	2	2	140	1	0	0	0	0	0	0	0	1	16822	1567	55	4		4	TULP1	6	35477490	Silent	SNP	T	TCGA-R6-A6DQ-01B-11D-A31U-09		35477490	135637577	45	35663											
DAAM2	23500	genome.wustl.edu	37	chr6	39846025	39846034	+	Frame_Shift_Del	DEL	AAGTTCCGGA	AAGTTCCGGA	-																															agtggcgagaccaggcagagAagttccggaaaggtgagggg																								rs548803809|rs377282686		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	AAGTTCCGGA	AAGTTCCGGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:39846025_39846034delAAGTTCCGGA	ENST00000398904.2	+	12	1530_1539	c.1348_1357delAAGTTCCGGA	c.(1348-1359)aagttccggaaafs	p.KFRK450fs	DAAM2_ENST00000274867.4_Frame_Shift_Del_p.KFRK450fs|DAAM2_ENST00000538976.1_Frame_Shift_Del_p.KFRK450fs			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	450					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R452Q(1)		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)					CCAGGCAGAGAAGTTCCGGAAAGGTGAGGG	0.552																																																	1	Substitution - Missense(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			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.1348_1357delAAGTTCCGGA	6.37:g.39846025_39846034delAAGTTCCGGA	ENSP00000381876:p.Lys450fs		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Frame_Shift_Del	DEL	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.F451fs	ENST00000398904.2	37	c.1348_1357	CCDS56426.1	6																																																																																			DAAM2	-	NULL	ENSG00000146122		0.552	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1		0	30	0	AAGTTCCGGA			39846034	1			no_errors	ENST00000274867	ensembl	human	known	74_37	frame_shift_del	22.86	27	8	DEL	1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:1.000:1.000	0	-	39846034	AAGTTCCGGA	-	39846025	7	5	140	1	0	1	0	1	0	0	0	0	4225	247	9	0	1390	0	DAAM2	6	39846025	Frame_Shift_Del	DEL	AAGTTCCGGA	TCGA-R6-A6DQ-01B-11D-A31U-09	4368535	39846025	131269042	46	35664											
MRPS18A	55168	genome.wustl.edu	37	chr6	43642962	43642962	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagttggggtttgctcttCggaacaactccttcaggaag	8	13	12	8	1	2	1	1	1	1	0	4	3	3	3	1	4	3	3	1	4	3	5	rs571547048		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:43642962C>A	ENST00000372133.3	-	5	434	c.423G>T	c.(421-423)ccG>ccT	p.P141P	MRPS18A_ENST00000372116.1_Intron	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	141					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)	p.P141P(1)		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)			GTTTGCTCTTCGGAACAACTC	0.552																																																	1	Substitution - coding silent(1)	large_intestine(1)											139	132	134					6																	43642962		2203	4300	6503	SO:0001819	synonymous_variant	0			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.423G>T	6.37:g.43642962C>A			A6XND3|Q5QPA4	Silent	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18	p.P141	ENST00000372133.3	37	c.423	CCDS4906.1	6																																																																																			MRPS18A	-	NULL	ENSG00000096080		0.552	MRPS18A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18A	HGNC	protein_coding	OTTHUMT00000040697.1		0	70	0	C	NM_018135		43642962	-1			no_errors	ENST00000372133	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.730	A	A	43642962	C	A	43642962	2	1	140	1	0	0	0	0	0	0	0	1	9866	871	31	2		2	MRPS18A	6	43642962	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	3796937	43642962	127472105	47	35665											
DOPEY1	23033	genome.wustl.edu	37	chr6	83830443	83830443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatggatttggagaagaGaacactctaatgcaggatct	14	10	12	5	0	2	3	0	1	2	2	2	7	2	5	0	3	2	1	0	3	4	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:83830443G>T	ENST00000349129.2	+	10	1292	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	DOPEY1_ENST00000369739.3_Missense_Mutation_p.E335D|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E335D	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	344					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTGGAGAAGAGAACACTCTAA	0.358																																																	0													134	127	130					6																	83830443		2203	4300	6503	SO:0001583	missense	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1032G>T	6.37:g.83830443G>T	ENSP00000195654:p.Glu344Asp		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.E344D	ENST00000349129.2	37	c.1032	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005634	0.74932	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.26067	1.76;1.78;1.77	5.74	1.37	0.22104	.	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	M	0.65498	2.005	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.995	D;D;D	0.81914	0.995;0.97;0.978	T	0.04593	-1.0940	10	0.34782	T	0.22	.	9.3475	0.38118	0.4456:0.0:0.5543:0.0	.	241;335;344	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	D	344;335;335	ENSP00000195654:E344D;ENSP00000237163:E335D;ENSP00000358754:E335D	ENSP00000237163:E335D	E	+	3	2	DOPEY1	83887162	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.873000	0.28052	0.337000	0.23665	0.557000	0.71058	GAG	DOPEY1	-	superfamily_ARM-type_fold	ENSG00000083097		0.358	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2		0	81	0	G	NM_015018		83830443	1			no_errors	ENST00000349129	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.998	T	T	83830443	G	T	83830443	3	4	140	1	0	0	0	0	1	0	0	0	4721	933	33	3	1062	3	DOPEY1	6	83830443	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	40187481	83830443	87284624	48	35666											
KIAA1919	91749	genome.wustl.edu	37	chr6	111583554	111583554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttcatttttgtgggtcGtgccttgggatatttgagtg	4	19	13	5	1	2	1	1	1	1	0	3	2	2	2	1	2	1	0	1	2	1	6	rs200995803		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:111583554G>A	ENST00000368847.4	+	2	475	c.122G>A	c.(121-123)cGt>cAt	p.R41H		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	41					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTGTGGGTCGTGCCTTGGGA	0.383																																																	0													371	349	357					6																	111583554		2203	4300	6503	SO:0001583	missense	0			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.122G>A	6.37:g.111583554G>A	ENSP00000357840:p.Arg41His		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.R41H	ENST00000368847.4	37	c.122	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.535304	0.96460	.	.	ENSG00000173214	ENST00000368847	T	0.57436	0.4	6.04	6.04	0.98038	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73414	-0.3990	10	0.66056	D	0.02	-13.4087	20.1743	0.98175	0.0:0.0:1.0:0.0	.	41	Q5TF39	NAGT1_HUMAN	H	41	ENSP00000357840:R41H	ENSP00000357840:R41H	R	+	2	0	KIAA1919	111690247	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.546000	0.90661	2.873000	0.98535	0.561000	0.74099	CGT	KIAA1919	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000173214		0.383	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1		0	51	0	G	NM_153369		111583554	1			no_errors	ENST00000368847	ensembl	human	known	74_37	missense	56.04	40	51	SNP	1.000	A	A	111583554	G	A	111583554	3	1	140	1	0	0	0	0	1	0	0	0	8289	1145	40	1	128	1	KIAA1919	6	111583554	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	27753111	111583554	59531513	49	35667											
HS3ST5	222537	genome.wustl.edu	37	chr6	114379236	114379236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaacctgctccttggaagCgttgcccttccggaactcgt	6	10	11	14	4	0	0	0	0	0	0	3	3	2	2	4	2	5	2	4	2	3	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:114379236C>T	ENST00000312719.5	-	5	1414	c.226G>A	c.(226-228)Gct>Act	p.A76T	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.A76T|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	76					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCCTTGGAAGCGTTGCCCTTC	0.592																																																	0													59	54	56					6																	114379236		2203	4300	6503	SO:0001583	missense	0			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"Sulfotransferases, membrane-bound"	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.226G>A	6.37:g.114379236C>T	ENSP00000427888:p.Ala76Thr		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.A76T	ENST00000312719.5	37	c.226	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296924	0.23650	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.44881	0.91;0.91	5.62	-4.29	0.03721	.	0.524304	0.21855	N	0.068109	T	0.05731	0.0150	N	0.24115	0.695	0.32728	N	0.509388	B	0.06786	0.001	B	0.04013	0.001	T	0.30851	-0.9964	10	0.07325	T	0.83	.	4.8497	0.13531	0.3912:0.3721:0.0:0.2367	.	76	Q8IZT8	HS3S5_HUMAN	T	76	ENSP00000427888:A76T;ENSP00000440332:A76T	ENSP00000427888:A76T	A	-	1	0	HS3ST5	114485929	0.608000	0.26966	0.614000	0.29051	0.986000	0.74619	0.266000	0.18534	-1.168000	0.02776	0.655000	0.94253	GCT	HS3ST5	-	superfamily_P-loop_NTPase	ENSG00000249853		0.592	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2		0	26	0	C	NM_153612		114379236	-1			no_errors	ENST00000312719	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.996	T	T	114379236	C	T	114379236	3	4	140	1	0	0	0	0	1	0	0	0	7395	768	27	1	818	1	HS3ST5	6	114379236	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	2795682	114379236	56735831	50	35668											
GPRC6A	222545	genome.wustl.edu	37	chr6	117128060	117128060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccacaatgacattaacctGggcttctaaaatgattttct	13	14	5	9	0	2	2	0	2	2	0	2	2	2	2	2	1	2	1	2	1	5	6			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:117128060G>T	ENST00000310357.3	-	3	829	c.808C>A	c.(808-810)Cag>Aag	p.Q270K	GPRC6A_ENST00000368549.3_Missense_Mutation_p.Q270K|GPRC6A_ENST00000530250.1_Missense_Mutation_p.Q270K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	270					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)		ACATTAACCTGGGCTTCTAAA	0.363																																																	0													80	85	83					6																	117128060		2203	4299	6502	SO:0001583	missense	0			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.808C>A	6.37:g.117128060G>T	ENSP00000309493:p.Gln270Lys		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.Q270K	ENST00000310357.3	37	c.808	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	G	1.021	-0.684959	0.03328	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	T;T;D	0.85411	-1.44;-1.44;-1.98	6.17	3.2	0.36748	Extracellular ligand-binding receptor (1);	0.475365	0.17778	N	0.162360	T	0.47192	0.1432	N	0.01576	-0.805	0.09310	N	1	B;B;B	0.26708	0.0;0.157;0.0	B;B;B	0.30179	0.002;0.112;0.004	T	0.49244	-0.8960	10	0.46703	T	0.11	.	10.5234	0.44934	0.0:0.1048:0.3371:0.5581	.	270;270;270	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	K	270	ENSP00000309493:Q270K;ENSP00000357537:Q270K;ENSP00000433465:Q270K	ENSP00000309493:Q270K	Q	-	1	0	GPRC6A	117234753	0.513000	0.26194	0.985000	0.45067	0.988000	0.76386	3.218000	0.51192	0.864000	0.35578	0.655000	0.94253	CAG	GPRC6A	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000173612		0.363	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2		0	69	0	G			117128060	-1			no_errors	ENST00000310357	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.170	T	T	117128060	G	T	117128060	3	4	140	1	0	0	0	0	1	0	0	0	6755	1357	47	3	1988	3	GPRC6A	6	117128060	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	2748824	117128060	53987007	51	35669											
SERINC1	57515	genome.wustl.edu	37	chr6	122768322	122768322	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctataattccttgagcatgCcaccactggactgactgccc	9	10	7	15	0	0	2	0	2	0	0	1	3	1	3	5	1	3	1	5	1	2	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:122768322C>T	ENST00000339697.4	-	8	1023	c.939G>A	c.(937-939)tgG>tgA	p.W313*		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	313					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)		CTTGAGCATGCCACCACTGGA	0.358																																																	0													214	204	207					6																	122768322		2203	4300	6503	SO:0001587	stop_gained	0			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.939G>A	6.37:g.122768322C>T	ENSP00000342962:p.Trp313*		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Nonsense_Mutation	SNP	pfam_TMS_TDE	p.W313*	ENST00000339697.4	37	c.939	CCDS5125.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.228281	0.97394	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7019	19.5294	0.95222	0.0:1.0:0.0:0.0	.	.	.	.	X	313	.	ENSP00000342962:W313X	W	-	3	0	SERINC1	122810021	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.619000	0.88677	0.655000	0.94253	TGG	SERINC1	-	pfam_TMS_TDE	ENSG00000111897		0.358	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC1	HGNC	protein_coding	OTTHUMT00000042031.2		0	46	0	C	NM_020755		122768322	-1			no_errors	ENST00000339697	ensembl	human	known	74_37	nonsense	13.79	25	4	SNP	1.000	T	T	122768322	C	T	122768322	4	4	140	1	0	0	0	0	0	1	0	0	14124	740	26	3	434	3	SERINC1	6	122768322	Nonsense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	5640262	122768322	48346745	52	35670											
FNDC1	84624	genome.wustl.edu	37	chr6	159660605	159660605	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcccactctttgggcaggggCgacatggcacacctctggcc	6	8	12	15	1	2	0	0	0	2	0	3	1	3	0	3	5	0	2	3	5	0	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:159660605C>T	ENST00000297267.9	+	14	4437	c.4237C>T	c.(4237-4239)Cga>Tga	p.R1413*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.R1350*|FNDC1-IT1_ENST00000419703.1_RNA	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1413					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)		TGGGCAGGGGCGACATGGCAC	0.527																																																	0													26	33	31					6																	159660605		1894	4113	6007	SO:0001587	stop_gained	0			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.4237C>T	6.37:g.159660605C>T	ENSP00000297267:p.Arg1413*		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R1413*	ENST00000297267.9	37	c.4237	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.983569|10.983569	0.99499|0.99499	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|.	.|.	.|.	5.11|5.11	0.218|0.218	0.15270|0.15270	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.14570|.	0.0352|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26189|.	-1.0110|.	3|.	.|0.02654	.|T	.|1	-14.7285|-14.7285	14.916|14.916	0.70798|0.70798	0.7782:0.2218:0.0:0.0|0.7782:0.2218:0.0:0.0	.|.	.|.	.|.	.|.	V|X	1308|1413;1350	.|.	.|ENSP00000297267:R1413X	A|R	+|+	2|1	0|2	FNDC1|FNDC1	159580595|159580595	1.000000|1.000000	0.71417|0.71417	0.518000|0.518000	0.27811|0.27811	0.994000|0.994000	0.84299|0.84299	1.367000|1.367000	0.34204|0.34204	0.204000|0.204000	0.20548|0.20548	-0.182000|-0.182000	0.12963|0.12963	GCG|CGA	FNDC1	-	NULL	ENSG00000164694		0.527	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3		0	69	0	C	NM_032532		159660605	1			no_errors	ENST00000297267	ensembl	human	known	74_37	nonsense	35.82	43	24	SNP	0.814	T	T	159660605	C	T	159660605	4	4	140	1	0	0	0	0	0	1	0	0	5990	760	27	1	4291	1	FNDC1	6	159660605	Nonsense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	36892283	159660605	11454462	53	35671											
RADIL	55698	genome.wustl.edu	37	chr7	4874577	4874577	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcaggggctgggcctgCgcggggtccttgaatagcag	5	6	20	10	3	0	1	0	1	0	0	1	1	1	1	2	6	2	3	2	6	2	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:4874577C>T	ENST00000399583.3	-	4	1264	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	RADIL_ENST00000536091.1_Silent_p.A359A|RADIL_ENST00000538469.1_Silent_p.A119A	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	359	FHA.				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)		GCTGGGCCTGCGCGGGGTCCT	0.746																																																	0													9	12	11					7																	4874577		1855	4073	5928	SO:0001819	synonymous_variant	0			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.1077G>A	7.37:g.4874577C>T			A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.A358T	ENST00000399583.3	37	c.1072	CCDS43544.1	7																																																																																			RADIL	-	NULL	ENSG00000157927		0.746	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2		0	42	0	C	NM_018059		4874577	-1			no_errors	ENST00000445392	ensembl	human	known	74_37	missense	22.22	42	12	SNP	0.001	T	T	4874577	C	T	4874577	2	4	140	1	0	0	0	0	0	0	0	1	13042	755	27	1		1	RADIL	7	4874577	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09		4874577	154264086	54	35672											
HDAC9	9734	genome.wustl.edu	37	chr7	18674282	18674282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagttctccaggctctGgtcccagttcaccaaacaat	10	10	8	13	0	3	0	1	0	2	0	5	0	4	0	3	2	2	5	3	2	3	3	rs374343180		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:18674282G>T	ENST00000432645.2	+	7	820	c.820G>T	c.(820-822)Ggt>Tgt	p.G274C	HDAC9_ENST00000428307.2_Missense_Mutation_p.G230C|HDAC9_ENST00000524023.1_Missense_Mutation_p.G197C|HDAC9_ENST00000417496.2_Missense_Mutation_p.G272C|HDAC9_ENST00000441542.2_Missense_Mutation_p.G277C|HDAC9_ENST00000405010.3_Missense_Mutation_p.G274C|HDAC9_ENST00000456174.2_Missense_Mutation_p.G246C|HDAC9_ENST00000406072.1_Missense_Mutation_p.G261C|HDAC9_ENST00000401921.1_Missense_Mutation_p.G233C|HDAC9_ENST00000406451.4_Missense_Mutation_p.G274C	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	274	Interaction with MAPK10. {ECO:0000250}.				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)	TCCAGGCTCTGGTCCCAGTTC	0.423																																																	0								G	CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY	0,3774		0,0,1887	74	73	73		814,688,697,589,736,820,820,820,829	5.5	1	7		73	1,8203		0,1,4101	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	HDAC9	NM_001204144.1,NM_001204145.1,NM_001204146.1,NM_001204147.1,NM_001204148.1,NM_014707.1,NM_058176.2,NM_178423.1,NM_178425.2	159,159,159,159,159,159,159,159,159	0,1,5988	TT,TG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	272/589,230/547,233/550,197/514,246/563,274/591,274/1012,274/1067,277/1070	18674282	1,11977	1887	4102	5989	SO:0001583	missense	0			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.820G>T	7.37:g.18674282G>T	ENSP00000410337:p.Gly274Cys		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.G277C	ENST00000432645.2	37	c.829	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614536	0.87359	0.0	1.22E-4	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.70516	-0.24;0.25;-0.18;-0.22;-0.25;-0.49;-0.18;-0.16;0.23;-0.21	5.51	5.51	0.81932	.	0.000000	0.56097	D	0.000022	D	0.86301	0.5900	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.992;1.0;1.0;1.0;1.0	D	0.86588	0.1858	10	0.48119	T	0.1	-25.9073	19.415	0.94690	0.0:0.0:1.0:0.0	.	197;246;274;261;272;274;277;233;277;274;246;274;274;252	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	C	272;275;274;274;230;261;233;274;277;246;197;274	ENSP00000401669:G272C;ENSP00000384382:G274C;ENSP00000384657:G274C;ENSP00000395655:G230C;ENSP00000384017:G261C;ENSP00000383912:G233C;ENSP00000410337:G274C;ENSP00000408617:G277C;ENSP00000388568:G246C;ENSP00000430036:G197C	ENSP00000262069:G275C	G	+	1	0	HDAC9	18640807	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.230000	0.95299	2.600000	0.87896	0.650000	0.86243	GGT	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.423	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1		0	79	0	G			18674282	1			no_errors	ENST00000441542	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	18674282	G	T	18674282	3	4	140	1	0	0	0	0	1	0	0	0	7041	1348	47	3	855	3	HDAC9	7	18674282	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	13799705	18674282	140464381	55	35673											
POU6F2	11281	genome.wustl.edu	37	chr7	39472858	39472858	+	Silent	SNP	G	G	A	0	0	1	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	aacacccagggcatcacgctGtcacccatcaagcccggcca	11	4	8	18	2	3	0	3	0	0	0	3	0	3	0	4	2	2	2	4	2	2	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:39472858G>A	ENST00000403058.1	+	8	1363	c.1209G>A	c.(1207-1209)ctG>ctA	p.L403L	POU6F2_ENST00000559001.1_Silent_p.L348L|POU6F2_ENST00000518318.2_Silent_p.L403L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	403	Gln-rich.				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						GCATCACGCTGTCACCCATCA	0.577																																																	0													95	73	81					7																	39472858		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1209G>A	7.37:g.39472858G>A			A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.L403	ENST00000403058.1	37	c.1209	CCDS34620.2	7																																																																																			POU6F2	-	NULL	ENSG00000106536		0.577	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3		0	13	0	G	NM_007252		39472858	1			no_errors	ENST00000403058	ensembl	human	known	74_37	silent	25.00	9	3	SNP	0.511	A	A	39472858	G	A	39472858	2	1	140	1	0	0	0	0	0	0	0	1	12324	1364	48	3		3	POU6F2	7	39472858	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	20798576	39472858	119665805	56	35674											
GLI3	2737	genome.wustl.edu	37	chr7	42006013	42006013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggccacgctcacgttctgCggccggccctcggcctgtga	3	8	13	17	6	2	1	1	1	1	0	4	1	2	1	4	4	1	2	4	4	0	1	rs375355919		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:42006013C>T	ENST00000395925.3	-	15	2742	c.2658G>A	c.(2656-2658)ccG>ccA	p.P886P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	886					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						TCACGTTCTGCGGCCGGCCCT	0.716									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													22	25	24					7																	42006013		2199	4297	6496	SO:0001819	synonymous_variant	0	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.2658G>A	7.37:g.42006013C>T			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P886	ENST00000395925.3	37	c.2658	CCDS5465.1	7																																																																																			GLI3	-	NULL	ENSG00000106571		0.716	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3		0	30	0	C	NM_000168		42006013	-1			no_errors	ENST00000395925	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.998	T	T	42006013	C	T	42006013	2	4	140	1	0	0	0	0	0	0	0	1	6465	755	27	1		1	GLI3	7	42006013	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	2533155	42006013	117132650	57	35675											
HECW1	23072	genome.wustl.edu	37	chr7	43506045	43506045	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcttcactttttttcaGatctaaggagagaagggtca	10	15	9	7	0	4	2	3	0	1	2	4	4	4	3	0	2	1	1	0	2	2	6			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:43506045G>T	ENST00000395891.2	+	15	3396		c.e15-1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						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						CTTTTTTTCAGATCTAAGGAG	0.478																																																	0													99	92	94					7																	43506045		1936	4141	6077	SO:0001630	splice_region_variant	0			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.2792-1G>T	7.37:g.43506045G>T			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Splice_Site	SNP	-	e13-1	ENST00000395891.2	37	c.2792-1	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160153	0.78226	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECW1	43472570	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.277000	0.72608	2.744000	0.94065	0.655000	0.94253	.	HECW1	-	-	ENSG00000002746		0.478	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2		0	35	0	G	NM_015052	Intron	43506045	1			no_errors	ENST00000395891	ensembl	human	known	74_37	splice_site	24.39	31	10	SNP	1.000	T	T	43506045	G	T	43506045	5	4	140	1	0	0	0	0	0	0	1	0	7069	956	33	3	2841	3	HECW1	7	43506045	Splice_Site	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	1500032	43506045	115632618	58	35676											
UPP1	7378	genome.wustl.edu	37	chr7	48146616	48146616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagctgttgctgtgttctGcagagctgagcgagttcacc	7	11	14	9	1	2	2	1	1	1	1	2	4	2	3	1	1	5	7	1	1	0	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:48146616G>A	ENST00000331803.4	+	8	1206	c.583G>A	c.(583-585)Gca>Aca	p.A195T	UPP1_ENST00000429491.2_Missense_Mutation_p.A58T|UPP1_ENST00000395564.4_Missense_Mutation_p.A195T|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.A195T			Q16831	UPP1_HUMAN	uridine phosphorylase 1	195					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)	GCTGTGTTCTGCAGAGCTGAG	0.547																																																	0													126	114	118					7																	48146616		2203	4300	6503	SO:0001583	missense	0			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.583G>A	7.37:g.48146616G>A	ENSP00000330032:p.Ala195Thr		D3DVM4|Q15362	Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.A195T	ENST00000331803.4	37	c.583	CCDS5507.1	7	.	.	.	.	.	.	.	.	.	.	G	2.999	-0.206508	0.06180	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.9	-5.1	0.02911	Nucleoside phosphorylase domain (1);	0.944651	0.08907	N	0.876407	T	0.22975	0.0555	L	0.31065	0.9	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.28870	-1.0030	10	0.15952	T	0.53	-0.9228	6.3673	0.21461	0.6842:0.1032:0.105:0.1077	.	58;195	Q86Y75;Q16831	.;UPP1_HUMAN	T	195;195;195;58	ENSP00000330032:A195T;ENSP00000342878:A195T;ENSP00000378931:A195T;ENSP00000406224:A58T	ENSP00000330032:A195T	A	+	1	0	UPP1	48113141	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.225000	0.09151	-0.833000	0.04245	-0.808000	0.03180	GCA	UPP1	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	ENSG00000183696		0.547	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP1	HGNC	protein_coding	OTTHUMT00000251360.1		0	26	0	G	NM_003364		48146616	1			no_errors	ENST00000331803	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.000	A	A	48146616	G	A	48146616	3	1	140	1	0	0	0	0	1	0	0	0	17061	1319	46	3	601	3	UPP1	7	48146616	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	4640571	48146616	110992047	59	35677											
ABCA13	154664	genome.wustl.edu	37	chr7	48312196	48312196	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatttatgaattattgaataTtcagagtagaggctcttcgt	12	17	8	4	1	2	4	1	2	1	2	3	4	2	4	0	1	0	2	0	1	7	9			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:48312196T>C	ENST00000435803.1	+	17	2957	c.2933T>C	c.(2932-2934)aTt>aCt	p.I978T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	978					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						TTATTGAATATTCAGAGTAGA	0.303																																																	0													43	41	42					7																	48312196		1798	4063	5861	SO:0001583	missense	0			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.2933T>C	7.37:g.48312196T>C	ENSP00000411096:p.Ile978Thr		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I978T	ENST00000435803.1	37	c.2933	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	2.228	-0.376796	0.05000	.	.	ENSG00000179869	ENST00000435803	D	0.86497	-2.13	5.67	-1.82	0.07857	.	0.821216	0.10424	N	0.676282	T	0.80534	0.4641	M	0.62723	1.935	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.69587	-0.5105	10	0.87932	D	0	.	0.6867	0.00884	0.2301:0.1409:0.2147:0.4143	.	978	Q86UQ4	ABCAD_HUMAN	T	978	ENSP00000411096:I978T	ENSP00000411096:I978T	I	+	2	0	ABCA13	48282742	0.000000	0.05858	0.011000	0.14972	0.010000	0.07245	-0.057000	0.11768	0.080000	0.16959	0.533000	0.62120	ATT	ABCA13	-	NULL	ENSG00000179869		0.303	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2		0	33	0	T	NM_152701		48312196	1			no_errors	ENST00000435803	ensembl	human	known	74_37	missense	18.87	43	10	SNP	0.000	C	C	48312196	T	C	48312196	3	2	140	1	0	0	0	0	1	0	0	0	31	1493	52	4	2828	4	ABCA13	7	48312196	Missense_Mutation	SNP	T	TCGA-R6-A6DQ-01B-11D-A31U-09	165580	48312196	110826467	60	35678											
FKBP6	8468	genome.wustl.edu	37	chr7	72745765	72745765	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	atcgtttctatgatgccaaaGtgagatataaaagggtgaga	15	11	11	4	1	1	3	0	3	1	2	2	5	1	3	1	1	1	1	1	1	5	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:72745765G>A	ENST00000252037.4	+	5	643	c.574G>A	c.(574-576)Gtg>Atg	p.V192M	FKBP6_ENST00000413573.2_Missense_Mutation_p.V162M|FKBP6_ENST00000431982.2_Missense_Mutation_p.V187M	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	192					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGATGCCAAAGTGAGATATAA	0.388																																																	0													96	93	94					7																	72745765		1863	4097	5960	SO:0001583	missense	0			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"FK506 binding protein 6 (36kD)", "peptidylprolyl cis-trans isomerase", "rotamase", "immunophilin FKBP36"	604839	"FK506-binding protein 6 (36kD)"			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.574G>A	7.37:g.72745765G>A	ENSP00000252037:p.Val192Met		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Splice_Site	SNP	-	e5+1	ENST00000252037.4	37	c.573+1	CCDS43595.1	7	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420880	0.62622	.	.	ENSG00000077800	ENST00000431982;ENST00000413573;ENST00000252037	T;T;T	0.74106	-0.81;-0.81;-0.81	5.4	4.5	0.54988	Tetratricopeptide-like helical (1);	0.450841	0.24513	N	0.037876	T	0.67126	0.2860	L	0.39898	1.24	0.32074	N	0.594041	B;B;B	0.14012	0.009;0.001;0.005	B;B;B	0.15052	0.012;0.005;0.005	T	0.69383	-0.5160	10	0.49607	T	0.09	-9.4	14.4504	0.67382	0.0:0.0:0.8518:0.1482	.	187;192;162	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	M	187;162;192	ENSP00000416277:V187M;ENSP00000394952:V162M;ENSP00000252037:V192M	ENSP00000252037:V192M	V	+	1	0	FKBP6	72383701	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.298000	0.59067	1.239000	0.43787	0.655000	0.94253	GTG	FKBP6	-	-	ENSG00000077800		0.388	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FKBP6	HGNC	protein_coding	OTTHUMT00000318723.1		0	50	0	G	NM_003602		72745765	1			no_errors	ENST00000429879	ensembl	human	known	74_37	splice_site	7.69	48	4	SNP	1.000	A	A	72745765	G	A	72745765	3	1	140	1	0	0	0	0	1	0	0	0	5934	1029	36	3	638	3	FKBP6	7	72745765	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	24433569	72745765	86392898	61	35679											
STX1A	6804	genome.wustl.edu	37	chr7	73118551	73118551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tgcgtggcgttgtactccgaCatgacctccacaaactttct	8	12	8	13	3	1	1	0	1	1	0	3	2	3	1	3	1	3	2	3	1	2	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:73118551C>A	ENST00000222812.3	-	6	419	c.393G>T	c.(391-393)atG>atT	p.M131I	STX1A_ENST00000395156.3_Missense_Mutation_p.M131I|STX1A_ENST00000395155.3_Missense_Mutation_p.M131I|WBSCR22_ENST00000423166.2_3'UTR|STX1A_ENST00000395154.3_Missense_Mutation_p.M131I	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	131					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGTACTCCGACATGACCTCCA	0.667																																																	0													49	45	47					7																	73118551		2203	4300	6503	SO:0001583	missense	0				CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.393G>T	7.37:g.73118551C>A	ENSP00000222812:p.Met131Ile		O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.M131I	ENST00000222812.3	37	c.393	CCDS34655.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021076	0.93462	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.38	4.38	0.52667	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.73598	2.24	0.80722	D	1	P;P;P	0.52316	0.948;0.78;0.952	P;B;P	0.57425	0.791;0.41;0.82	T	0.24512	-1.0158	10	0.41790	T;T	0.15;0.15	-52.953	14.4852	0.67611	0.0:1.0:0.0:0.0	.	131;131;131	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	I	40;131;131;131;131	ENSP00000222812:M131I;ENSP00000378585:M131I;ENSP00000378583:M131I;ENSP00000378584:M131I	ENSP00000222812:M131I;ENSP00000222812:M131I	M	-	3	0	STX1A	72756487	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.608000	0.82898	2.279000	0.76181	0.455000	0.32223	ATG	STX1A	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N	ENSG00000106089		0.667	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1A	HGNC	protein_coding	OTTHUMT00000268422.1		0	38	0	C	NM_004603		73118551	-1			no_errors	ENST00000222812	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	A	A	73118551	C	A	73118551	3	1	140	1	0	0	0	0	1	0	0	0	15390	478	17	3	493	3	STX1A	7	73118551	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	372786	73118551	86020112	62	35680											
SAMD9	54809	genome.wustl.edu	37	chr7	92732292	92732292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	tttcaccttcatgttcatcgCggtgtcttgtgagtaggagt	6	16	11	8	2	4	1	3	1	1	0	5	2	4	2	1	2	0	2	1	2	1	5	rs372955426		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:92732292C>A	ENST00000379958.2	-	3	3388	c.3119G>T	c.(3118-3120)cGc>cTc	p.R1040L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1040						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.R1040L(1)		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)			ATGTTCATCGCGGTGTCTTGT	0.363																																																	1	Substitution - Missense(1)	ovary(1)											113	101	105					7																	92732292		2203	4300	6503	SO:0001583	missense	0			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.3119G>T	7.37:g.92732292C>A	ENSP00000369292:p.Arg1040Leu		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.R1040L	ENST00000379958.2	37	c.3119	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492753	0.26774	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25749	1.78;2.6	4.46	2.64	0.31445	.	0.179206	0.27164	N	0.020622	T	0.32010	0.0815	L	0.55990	1.75	0.09310	N	1	D	0.59767	0.986	P	0.53266	0.722	T	0.07028	-1.0794	10	0.72032	D	0.01	-0.2488	7.5755	0.27933	0.0:0.7234:0.0:0.2766	.	1040	Q5K651	SAMD9_HUMAN	L	1040	ENSP00000369292:R1040L;ENSP00000414529:R1040L	ENSP00000369292:R1040L	R	-	2	0	SAMD9	92570228	0.431000	0.25546	0.077000	0.20336	0.333000	0.28666	0.937000	0.28951	1.249000	0.43950	0.609000	0.83330	CGC	SAMD9	-	NULL	ENSG00000205413		0.363	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1		0	33	0	C	NM_017654		92732292	-1			no_errors	ENST00000379958	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.026	A	A	92732292	C	A	92732292	3	1	140	1	0	0	0	0	1	0	0	0	13871	768	27	2	1654	2	SAMD9	7	92732292	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	19613741	92732292	66406371	63	35681											
COG5	10466	genome.wustl.edu	37	chr7	106964908	106964908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttgccatatgaaattgaGaagaaagtgcctgagtaact	14	12	10	5	0	0	4	0	3	0	2	0	5	0	4	2	0	3	2	2	0	5	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:106964908G>A	ENST00000347053.3	-	11	1228	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	COG5_ENST00000297135.3_Missense_Mutation_p.S393F|COG5_ENST00000393603.2_Missense_Mutation_p.S393F	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	393					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATGAAATTGAGAAGAAAGTGC	0.274																																																	0													48	56	53					7																	106964908		2203	4292	6495	SO:0001583	missense	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1178C>T	7.37:g.106964908G>A	ENSP00000334703:p.Ser393Phe		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_Cog5	p.S393F	ENST00000347053.3	37	c.1178	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853827	0.32791	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.58060	0.36;0.36;0.36	4.71	4.71	0.59529	.	0.251463	0.41938	D	0.000783	T	0.58509	0.2127	M	0.68952	2.095	0.48341	D	0.999638	P;D	0.53312	0.913;0.959	B;P	0.46543	0.254;0.52	T	0.65586	-0.6132	10	0.62326	D	0.03	-14.4473	16.949	0.86239	0.0:0.0:1.0:0.0	.	393;393	Q9UP83;Q9UP83-2	COG5_HUMAN;.	F	393	ENSP00000334703:S393F;ENSP00000297135:S393F;ENSP00000377228:S393F	ENSP00000297135:S393F	S	-	2	0	COG5	106752144	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	3.597000	0.54031	2.598000	0.87819	0.650000	0.86243	TCT	COG5	-	NULL	ENSG00000164597		0.274	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4		0	140	0	G			106964908	-1			no_errors	ENST00000297135	ensembl	human	known	74_37	missense	30.41	119	52	SNP	1.000	A	A	106964908	G	A	106964908	3	1	140	1	0	0	0	0	1	0	0	0	3668	942	33	3	1456	3	COG5	7	106964908	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	14232616	106964908	52173755	64	35682											
TES	26136	genome.wustl.edu	37	chr7	115890525	115890525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccatggaggacaaatCtgctgagcacaaaagaactc	14	5	13	9	0	1	2	0	1	1	1	2	4	1	4	1	4	3	2	1	4	4	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:115890525C>A	ENST00000358204.4	+	4	892	c.677C>A	c.(676-678)tCt>tAt	p.S226Y	AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_Missense_Mutation_p.S217Y|TES_ENST00000537767.1_Intron	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	226					negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GAGGACAAATCTGCTGAGCAC	0.438																																																	0													60	64	62					7																	115890525		2203	4300	6503	SO:0001583	missense	0			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.677C>A	7.37:g.115890525C>A	ENSP00000350937:p.Ser226Tyr		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S226Y	ENST00000358204.4	37	c.677	CCDS5763.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.09|16.09	3.024672|3.024672	0.54683|0.54683	.|.	.|.	ENSG00000135269|ENSG00000135269	ENST00000393484|ENST00000358204;ENST00000257721;ENST00000393481	.|T;T	.|0.60920	.|0.15;0.15	5.39|5.39	4.51|4.51	0.55191|0.55191	.|.	.|0.488607	.|0.20765	.|N	.|0.086086	T|T	0.36054|0.36054	0.0953|0.0953	N|N	0.08118|0.08118	0|0	0.23095|0.23095	N|N	0.998303|0.998303	.|B	.|0.12013	.|0.005	.|B	.|0.14023	.|0.01	T|T	0.31223|0.31223	-0.9951|-0.9951	5|10	.|0.87932	.|D	.|0	-1.7134|-1.7134	8.9728|8.9728	0.35917|0.35917	0.0:0.7775:0.0:0.2225|0.0:0.7775:0.0:0.2225	.|.	.|226	.|Q9UGI8	.|TES_HUMAN	M|Y	13|226;226;217	.|ENSP00000350937:S226Y;ENSP00000377121:S217Y	.|ENSP00000257721:S226Y	L|S	+|+	1|2	2|0	TES|TES	115677761|115677761	0.004000|0.004000	0.15560|0.15560	0.004000|0.004000	0.12327|0.12327	0.052000|0.052000	0.14988|0.14988	0.649000|0.649000	0.24843|0.24843	1.421000|1.421000	0.47157|0.47157	0.655000|0.655000	0.94253|0.94253	CTG|TCT	TES	-	NULL	ENSG00000135269		0.438	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	HGNC	protein_coding	OTTHUMT00000059413.2		0	37	0	C	NM_015641		115890525	1			no_errors	ENST00000358204	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.017	A	A	115890525	C	A	115890525	3	1	140	1	0	0	0	0	1	0	0	0	15812	913	32	3	691	3	TES	7	115890525	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	8925617	115890525	43248138	65	35683											
GRM8	2918	genome.wustl.edu	37	chr7	126544654	126544654	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcgagcattaggtgtttCtagcaggcgtttgataattt	8	16	11	6	2	1	1	0	1	1	0	2	2	1	1	0	2	3	5	0	2	3	6			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:126544654C>G	ENST00000339582.2	-	4	1619	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	GRM8_ENST00000444921.2_Missense_Mutation_p.E271Q|GRM8_ENST00000405249.1_Missense_Mutation_p.E271Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E271Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	271					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)				TTAGGTGTTTCTAGCAGGCGT	0.403										HNSCC(24;0.065)																																							0													110	104	106					7																	126544654		2203	4300	6503	SO:0001583	missense	0				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.811G>C	7.37:g.126544654C>G	ENSP00000344173:p.Glu271Gln		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.E271Q	ENST00000339582.2	37	c.811	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240630	0.58995	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.24	5.24	0.73138	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	N	0.21324	0.655	0.80722	D	1	B;B	0.32573	0.376;0.137	B;B	0.30401	0.084;0.115	T	0.69522	-0.5123	10	0.10902	T	0.67	.	17.8349	0.88693	0.0:1.0:0.0:0.0	.	271;271	O00222-2;O00222	.;GRM8_HUMAN	Q	271	ENSP00000344173:E271Q;ENSP00000409790:E271Q;ENSP00000351142:E271Q;ENSP00000385731:E271Q;ENSP00000415522:E271Q	ENSP00000344173:E271Q	E	-	1	0	GRM8	126331890	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.750000	0.85110	2.445000	0.82738	0.557000	0.71058	GAA	GRM8	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt	ENSG00000179603		0.403	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0	74	0	C			126544654	-1			no_errors	ENST00000339582	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	G	G	126544654	C	G	126544654	3	3	140	1	0	0	0	0	1	0	0	0	6830	922	32	5	1997	5	GRM8	7	126544654	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	10654129	126544654	32594009	66	35684											
MTMR9	66036	genome.wustl.edu	37	chr8	11177336	11177336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgctccgcagagtcttcCactgtgggaaggtaaaccac	10	9	11	11	1	1	1	0	0	1	1	3	2	3	2	3	2	2	4	3	2	3	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:11177336C>A	ENST00000221086.3	+	9	1948	c.1475C>A	c.(1474-1476)cCa>cAa	p.P492Q	MTMR9_ENST00000526292.1_Missense_Mutation_p.P407Q|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	492	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					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)		CAGAGTCTTCCACTGTGGGAA	0.502																																																	0													106	94	98					8																	11177336		2203	4300	6503	SO:0001583	missense	0			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.1475C>A	8.37:g.11177336C>A	ENSP00000221086:p.Pro492Gln		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom	p.P492Q	ENST00000221086.3	37	c.1475	CCDS5979.1	8	.	.	.	.	.	.	.	.	.	.	C	4.497	0.092269	0.08632	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.89681	-2.55;-2.55	4.38	1.91	0.25777	Myotubularin phosphatase domain (1);	0.317428	0.35970	N	0.002874	T	0.50343	0.1610	N	0.00027	-2.65	0.27318	N	0.957131	B	0.02656	0.0	B	0.01281	0.0	T	0.60281	-0.7294	10	0.10377	T	0.69	.	6.9933	0.24767	0.668:0.1949:0.0:0.1371	.	492	Q96QG7	MTMR9_HUMAN	Q	492;407	ENSP00000221086:P492Q;ENSP00000433239:P407Q	ENSP00000221086:P492Q	P	+	2	0	MTMR9	11214746	1.000000	0.71417	0.934000	0.37439	0.240000	0.25518	3.660000	0.54496	0.249000	0.21456	-1.283000	0.01379	CCA	MTMR9	-	NULL	ENSG00000104643		0.502	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2		0	71	0	C	NM_015458		11177336	1			no_errors	ENST00000221086	ensembl	human	known	74_37	missense	8.00	69	6	SNP	1.000	A	A	11177336	C	A	11177336	3	1	140	1	0	0	0	0	1	0	0	0	9988	594	21	3	1509	3	MTMR9	8	11177336	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09		11177336	135186686	67	35685											
MTUS1	57509	genome.wustl.edu	37	chr8	17601255	17601255	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atttgcctcaaaccgcaggaGtcaggcttggatatattcct	10	12	9	10	1	2	0	2	0	0	0	3	2	3	2	3	3	2	2	3	3	3	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:17601255G>T	ENST00000262102.6	-	3	2369	c.2145C>A	c.(2143-2145)gaC>gaA	p.D715E	MTUS1_ENST00000519263.1_Missense_Mutation_p.D715E|MTUS1_ENST00000381869.3_Missense_Mutation_p.D715E|MTUS1_ENST00000381862.3_Missense_Mutation_p.D715E	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	715					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)		AACCGCAGGAGTCAGGCTTGG	0.453																																																	0													91	90	91					8																	17601255		1871	4102	5973	SO:0001583	missense	0			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.2145C>A	8.37:g.17601255G>T	ENSP00000262102:p.Asp715Glu		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.D715E	ENST00000262102.6	37	c.2145	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941091	0.34283	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.38401	3.04;1.14;3.04;2.06	4.76	3.88	0.44766	.	0.517494	0.18265	N	0.146499	T	0.27384	0.0672	L	0.27053	0.805	0.09310	N	1	P;P;P	0.46142	0.827;0.827;0.873	B;B;B	0.44133	0.442;0.359;0.306	T	0.07849	-1.0751	10	0.54805	T	0.06	-8.0399	7.7967	0.29152	0.1883:0.0:0.8117:0.0	.	715;715;715	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	E	715	ENSP00000371293:D715E;ENSP00000262102:D715E;ENSP00000430167:D715E;ENSP00000371286:D715E	ENSP00000262102:D715E	D	-	3	2	MTUS1	17645535	0.025000	0.19082	0.020000	0.16555	0.564000	0.35744	0.848000	0.27710	1.336000	0.45506	0.655000	0.94253	GAC	MTUS1	-	NULL	ENSG00000129422		0.453	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1		0	38	0	G	XM_372031		17601255	-1			no_errors	ENST00000262102	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.004	T	T	17601255	G	T	17601255	3	4	140	1	0	0	0	0	1	0	0	0	10003	1020	36	3	2038	3	MTUS1	8	17601255	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	6423919	17601255	128762767	68	35686											
NRG1	3084	genome.wustl.edu	37	chr8	32621347	32621347	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaaatcgcccccttcGgaaatgtctccacccgtgtc	7	9	6	19	3	1	0	0	0	1	0	6	1	2	1	6	1	0	0	6	1	2	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:32621347G>A	ENST00000405005.3	+	12	1350	c.1350G>A	c.(1348-1350)tcG>tcA	p.S450S	NRG1_ENST00000356819.4_Silent_p.S455S|NRG1_ENST00000338921.4_Silent_p.S458S|NRG1_ENST00000519301.1_Silent_p.S400S|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000539990.1_Silent_p.S293S|NRG1_ENST00000287842.3_Silent_p.S447S|NRG1_ENST00000287845.5_Silent_p.S421S|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	450					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)	p.S455S(1)		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)		CGCCCCCTTCGGAAATGTCTC	0.562																																																	1	Substitution - coding silent(1)	large_intestine(1)											107	104	105					8																	32621347		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1350G>A	8.37:g.32621347G>A			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	Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.S458	ENST00000405005.3	37	c.1374	CCDS6085.1	8																																																																																			NRG1	-	pfam_Neuregulin_1_C	ENSG00000157168		0.562	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1		0	32	0	G			32621347	1			no_errors	ENST00000338921	ensembl	human	known	74_37	silent	11.36	38	5	SNP	0.985	A	A	32621347	G	A	32621347	2	1	140	1	0	0	0	0	0	0	0	1	10686	1103	39	1		1	NRG1	8	32621347	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	15020092	32621347	113742675	69	35687											
ANK1	286	genome.wustl.edu	37	chr8	41557028	41557028	+	Missense_Mutation	SNP	A	A	T	1	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	ctcttcatcaacatccctggAatcccgcctctcagccttga	8	11	5	17	1	4	1	3	1	2	0	7	2	6	2	4	1	2	0	4	1	2	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:41557028A>T	ENST00000347528.4	-	23	2583	c.2500T>A	c.(2500-2502)Tcc>Acc	p.S834T	ANK1_ENST00000379758.2_Missense_Mutation_p.S834T|ANK1_ENST00000396942.1_Missense_Mutation_p.S834T|ANK1_ENST00000289734.7_Missense_Mutation_p.S834T|ANK1_ENST00000352337.4_Missense_Mutation_p.S834T|ANK1_ENST00000396945.1_Missense_Mutation_p.S834T|ANK1_ENST00000265709.8_Missense_Mutation_p.S875T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	834					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)			ACATCCCTGGAATCCCGCCTC	0.547																																																	0													113	108	110					8																	41557028		2203	4300	6503	SO:0001583	missense	0			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.2500T>A	8.37:g.41557028A>T	ENSP00000339620:p.Ser834Thr		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.S834T	ENST00000347528.4	37	c.2500	CCDS6119.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.318|6.318	0.426777|0.426777	0.11987|0.11987	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.64618	.|-0.09;-0.09;-0.07;-0.05;-0.07;-0.06;-0.11	5.49|5.49	-2.0|-2.0	0.07433|0.07433	.|.	.|0.590539	.|0.18723	.|N	.|0.132959	T|T	0.39517|0.39517	0.1081|0.1081	N|N	0.22421|0.22421	0.69|0.69	0.27376|0.27376	N|N	0.95556|0.95556	.|B;P;B;B;B;B	.|0.34800	.|0.132;0.469;0.004;0.141;0.057;0.389	.|B;B;B;B;B;B	.|0.35114	.|0.062;0.117;0.007;0.098;0.138;0.196	T|T	0.25676|0.25676	-1.0125|-1.0125	5|10	.|0.36615	.|T	.|0.2	.|.	5.3956|5.3956	0.16266|0.16266	0.2782:0.53:0.0744:0.1174|0.2782:0.53:0.0744:0.1174	.|.	.|875;834;834;834;834;150	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	Y|T	155|834;834;834;834;834;834;875;834	.|ENSP00000339620:S834T;ENSP00000289734:S834T;ENSP00000369082:S834T;ENSP00000380149:S834T;ENSP00000380147:S834T;ENSP00000309131:S834T;ENSP00000265709:S875T	.|ENSP00000265709:S875T	F|S	-|-	2|1	0|0	ANK1|ANK1	41676185|41676185	0.762000|0.762000	0.28451|0.28451	0.253000|0.253000	0.24343|0.24343	0.023000|0.023000	0.10783|0.10783	0.275000|0.275000	0.18698|0.18698	-0.201000|-0.201000	0.10284|0.10284	0.533000|0.533000	0.62120|0.62120	TTC|TCC	ANK1	-	NULL	ENSG00000029534		0.547	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1		0	19	0	A	NM_020475		41557028	-1			no_errors	ENST00000396942	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.414	T	T	41557028	A	T	41557028	3	4	140	1	0	0	0	0	1	0	0	0	620	246	9	5	3551	5	ANK1	8	41557028	Missense_Mutation	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	8935681	41557028	104806994	70	35688											
SNTG1	54212	genome.wustl.edu	37	chr8	51465644	51465644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtcattgctgtggatgggGtctgcactgggattattcag	8	13	14	6	0	3	0	2	0	1	0	3	2	3	2	0	4	2	2	0	4	2	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:51465644G>A	ENST00000522124.1	+	12	1376	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	SNTG1_ENST00000276467.5_Missense_Mutation_p.V239I|SNTG1_ENST00000517473.1_Missense_Mutation_p.V239I|SNTG1_ENST00000518864.1_Missense_Mutation_p.V239I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	239					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGTGGATGGGGTCTGCACTGG	0.428																																																	0													154	130	138					8																	51465644		2203	4300	6503	SO:0001583	missense	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.715G>A	8.37:g.51465644G>A	ENSP00000429842:p.Val239Ile		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.V239I	ENST00000522124.1	37	c.715	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146593	0.37923	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.2	5.2	0.72013	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.54323	1.7	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.14578	0.011;0.002	T	0.42899	-0.9424	10	0.23891	T	0.37	.	17.7901	0.88550	0.0:0.0:1.0:0.0	.	239;239	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	239	ENSP00000429276:V239I;ENSP00000429842:V239I;ENSP00000431123:V239I;ENSP00000276467:V239I	ENSP00000276467:V239I	V	+	1	0	SNTG1	51628197	1.000000	0.71417	0.976000	0.42696	0.392000	0.30506	7.031000	0.76491	2.437000	0.82529	0.558000	0.71614	GTC	SNTG1	-	smart_Pleckstrin_homology	ENSG00000147481		0.428	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1		0	50	0	G			51465644	1			no_errors	ENST00000518864	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	51465644	G	A	51465644	3	1	140	1	0	0	0	0	1	0	0	0	14919	1261	44	3	753	3	SNTG1	8	51465644	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	9908616	51465644	94898378	71	35689											
PXDNL	137902	genome.wustl.edu	37	chr8	52321517	52321517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatcgatgtaggctgtttgCtggttgatctgctctcgtgc	4	15	12	10	2	2	1	0	1	2	0	4	2	2	1	1	2	3	6	1	2	1	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:52321517C>A	ENST00000356297.4	-	17	2767	c.2667G>T	c.(2665-2667)caG>caT	p.Q889H	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q889H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	889					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)				AGGCTGTTTGCTGGTTGATCT	0.632																																																	0													45	50	48					8																	52321517		2048	4186	6234	SO:0001583	missense	0				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.2667G>T	8.37:g.52321517C>A	ENSP00000348645:p.Gln889His		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.Q889H	ENST00000356297.4	37	c.2667	CCDS47855.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.453|5.453	0.268627|0.268627	0.10349|0.10349	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.69561|.	-0.41;-0.41|.	4.17|4.17	1.88|1.88	0.25563|0.25563	.|.	0.133396|.	0.34046|.	N|.	0.004320|.	T|T	0.66597|0.66597	0.2805|0.2805	M|M	0.92412|0.92412	3.305|3.305	0.23899|0.23899	N|N	0.996526|0.996526	B|.	0.29136|.	0.234|.	B|.	0.34301|.	0.179|.	T|T	0.58595|0.58595	-0.7609|-0.7609	10|5	0.56958|.	D|.	0.05|.	.|.	8.613|8.613	0.33815|0.33815	0.0:0.7556:0.0:0.2444|0.0:0.7556:0.0:0.2444	.|.	889|.	A1KZ92|.	PXDNL_HUMAN|.	H|I	889|8	ENSP00000348645:Q889H;ENSP00000444865:Q889H|.	ENSP00000348645:Q889H|.	Q|S	-|-	3|2	2|0	PXDNL|PXDNL	52484070|52484070	0.002000|0.002000	0.14202|0.14202	0.109000|0.109000	0.21407|0.21407	0.020000|0.020000	0.10135|0.10135	-1.340000|-1.340000	0.02650|0.02650	0.726000|0.726000	0.32339|0.32339	0.655000|0.655000	0.94253|0.94253	CAG|AGC	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.632	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1		0	22	0	C	NM_144651		52321517	-1			no_errors	ENST00000356297	ensembl	human	known	74_37	missense	55.00	9	11	SNP	0.998	A	A	52321517	C	A	52321517	3	1	140	1	0	0	0	0	1	0	0	0	12893	796	28	3	1752	3	PXDNL	8	52321517	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	855873	52321517	94042505	72	35690											
RIMS2	9699	genome.wustl.edu	37	chr8	105001531	105001531	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatagatcttgttgttttAgtcggaatgtggaacagggg	10	14	14	3	1	1	2	0	1	1	1	2	4	1	4	0	4	1	2	0	4	5	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:105001531A>T	ENST00000436393.2	+	15	2502		c.e15-1		RIMS2_ENST00000507740.1_Splice_Site|RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site			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)			TTGTTGTTTTAGTCGGAATGT	0.383										HNSCC(12;0.0054)																																							0													127	123	124					8																	105001531		1852	4095	5947	SO:0001630	splice_region_variant	0			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.2262-1A>T	8.37:g.105001531A>T			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Splice_Site	SNP	-	e17-2	ENST00000436393.2	37	c.2928-2		8	.	.	.	.	.	.	.	.	.	.	A	14.81	2.645882	0.47258	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.54	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6055	0.45392	0.9238:0.0:0.0762:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIMS2	105070707	1.000000	0.71417	0.993000	0.49108	0.517000	0.34286	2.471000	0.45127	2.115000	0.64714	0.397000	0.26171	.	RIMS2	-	-	ENSG00000176406		0.383	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1		0	76	0	A	NM_001100117	Intron	105001531	1			no_errors	ENST00000406091	ensembl	human	known	74_37	splice_site	55.41	33	41	SNP	0.990	T	T	105001531	A	T	105001531	5	4	140	1	0	0	0	0	0	0	1	0	13413	434	15	5	3118	5	RIMS2	8	105001531	Splice_Site	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	52680014	105001531	41362491	73	35691											
CSMD3	114788	genome.wustl.edu	37	chr8	113812439	113812439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacactttcgtccgtttGaaggtgcagccacatttggc	8	12	9	12	2	0	1	0	1	0	0	3	1	2	1	3	2	3	2	3	2	2	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:113812439G>T	ENST00000297405.5	-	13	2168	c.1924C>A	c.(1924-1926)Caa>Aaa	p.Q642K	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q602K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q642K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q538K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	642	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCGTCCGTTTGAAGGTGCAGC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													145	128	134					8																	113812439		2203	4300	6503	SO:0001583	missense	0			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.1924C>A	8.37:g.113812439G>T	ENSP00000297405:p.Gln642Lys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Q642K	ENST00000297405.5	37	c.1924	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607642	0.66558	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.73	5.73	0.89815	CUB (5);	0.000000	0.64402	D	0.000003	T	0.31199	0.0789	N	0.11845	0.185	0.45607	D	0.998545	D;D;P	0.60160	0.987;0.983;0.916	D;D;P	0.79784	0.92;0.993;0.503	T	0.03175	-1.1064	10	0.05959	T	0.93	.	19.8983	0.96975	0.0:0.0:1.0:0.0	.	538;642;602	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	602;642;538;642	ENSP00000345799:Q602K;ENSP00000297405:Q642K;ENSP00000412263:Q538K;ENSP00000343124:Q642K	ENSP00000297405:Q642K	Q	-	1	0	CSMD3	113881615	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.643000	0.98464	2.718000	0.92993	0.650000	0.86243	CAA	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0	59	0	G	NM_052900		113812439	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	113812439	G	T	113812439	3	4	140	1	0	0	0	0	1	0	0	0	3955	1299	45	3	9435	3	CSMD3	8	113812439	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	8810908	113812439	32551583	74	35692											
GSDMD	79792	genome.wustl.edu	37	chr8	144642814	144642814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagtcctgcagcagctgcGcagccgcggggacaacgtgt	9	5	14	13	4	0	0	0	0	0	0	1	1	1	1	2	2	6	4	2	2	2	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:144642814G>A	ENST00000526406.1	+	7	1335	c.452G>A	c.(451-453)cGc>cAc	p.R151H	GSDMD_ENST00000533063.1_Missense_Mutation_p.R199H|GSDMD_ENST00000262580.4_Missense_Mutation_p.R151H	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	151					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CAGCAGCTGCGCAGCCGCGGG	0.657																																																	0													25	20	22					8																	144642814		2178	4285	6463	SO:0001583	missense	0			AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.452G>A	8.37:g.144642814G>A	ENSP00000433209:p.Arg151His		D3DWJ9|Q96Q98	Missense_Mutation	SNP	pfam_Gasdermin	p.R151H	ENST00000526406.1	37	c.452	CCDS34956.1	8	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027088	0.35797	.	.	ENSG00000104518	ENST00000526406;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000534018;ENST00000533888	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	4.42	3.55	0.40652	.	0.253950	0.26963	N	0.021601	T	0.50548	0.1622	M	0.76170	2.325	0.09310	N	1	D;D;D;D	0.89917	0.991;1.0;1.0;1.0	P;D;D;D	0.81914	0.879;0.995;0.995;0.992	T	0.34079	-0.9843	10	0.62326	D	0.03	-62.8027	8.3422	0.32249	0.1051:0.0:0.8949:0.0	.	392;151;151;199	Q6ZRV8;A8K702;P57764;G3V1A6	.;.;GSDMD_HUMAN;.	H	151;151;199;151;167;151	ENSP00000433209:R151H;ENSP00000434386:R151H;ENSP00000433958:R199H;ENSP00000262580:R151H;ENSP00000436684:R167H;ENSP00000437065:R151H	ENSP00000262580:R151H	R	+	2	0	GSDMD	144713957	0.104000	0.21937	0.016000	0.15963	0.003000	0.03518	2.091000	0.41691	1.467000	0.48044	0.643000	0.83706	CGC	GSDMD	-	pfam_Gasdermin	ENSG00000104518		0.657	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GSDMD	HGNC	protein_coding	OTTHUMT00000382046.3		0	12	0	G	NM_024736		144642814	1			no_errors	ENST00000262580	ensembl	human	known	74_37	missense	46.15	7	6	SNP	0.015	A	A	144642814	G	A	144642814	3	1	140	1	0	0	0	0	1	0	0	0	6846	1087	38	1	462	1	GSDMD	8	144642814	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	30830375	144642814	1721208	75	35693											
GPT	2875	genome.wustl.edu	37	chr8	145732324	145732324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccccccttggagaaactgCggctgctgctggagaagctg	7	8	14	12	1	0	2	0	0	0	2	0	4	0	2	3	3	6	4	3	3	2	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:145732324C>T	ENST00000528431.1	+	12	1589	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	GPT_ENST00000394955.2_Missense_Mutation_p.R478W|MFSD3_ENST00000301327.4_5'Flank			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	478					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)	GGAGAAACTGCGGCTGCTGCT	0.632																																																	0													71	66	68					8																	145732324		2203	4300	6503	SO:0001583	missense	0				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	ENST00000528431.1:c.1432C>T	8.37:g.145732324C>T	ENSP00000433586:p.Arg478Trp		B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.R478W	ENST00000528431.1	37	c.1432	CCDS6430.1	8	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611676	0.66558	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.91124	-2.79;-2.79	4.68	2.52	0.30459	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.123114	0.50627	D	0.000109	D	0.91399	0.7286	L	0.41492	1.28	0.36704	D	0.880285	D	0.76494	0.999	D	0.66979	0.948	D	0.92471	0.5985	10	0.87932	D	0	-35.9045	10.8248	0.46625	0.44:0.56:0.0:0.0	.	478	P24298	ALAT1_HUMAN	W	478	ENSP00000433586:R478W;ENSP00000378408:R478W	ENSP00000378408:R478W	R	+	1	2	GPT	145703132	0.979000	0.34478	0.972000	0.41901	0.939000	0.58152	0.413000	0.21148	0.891000	0.36235	0.561000	0.74099	CGG	GPT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000167701		0.632	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	HGNC	protein_coding	OTTHUMT00000382471.1		0	49	0	C			145732324	1			no_errors	ENST00000394955	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.991	T	T	145732324	C	T	145732324	3	4	140	1	0	0	0	0	1	0	0	0	6764	759	27	1	1474	1	GPT	8	145732324	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	1089510	145732324	631698	76	35694											
RANBP6	26953	genome.wustl.edu	37	chr9	6012763	6012763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcttctgaacataaagaacGataatcatctccaccaaact	17	9	4	11	1	3	2	1	1	2	1	4	3	3	2	2	0	4	1	2	0	6	3	rs147043824		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:6012763G>C	ENST00000259569.5	-	1	2855	c.2845C>G	c.(2845-2847)Cgt>Ggt	p.R949G	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	949					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R949C(1)		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)		CATAAAGAACGATAATCATCT	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											79	72	74					9																	6012763		2203	4300	6503	SO:0001583	missense	0			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.2845C>G	9.37:g.6012763G>C	ENSP00000259569:p.Arg949Gly		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R949G	ENST00000259569.5	37	c.2845	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491979	0.26774	.	.	ENSG00000137040	ENST00000259569	T	0.09911	2.93	4.56	3.65	0.41850	Armadillo-like helical (1);Armadillo-type fold (1);	0.111224	0.64402	D	0.000013	T	0.12008	0.0292	L	0.60455	1.87	0.80722	D	1	B;B;B	0.14805	0.005;0.011;0.001	B;B;B	0.15052	0.008;0.012;0.003	T	0.07009	-1.0795	10	0.19147	T	0.46	-7.9828	13.0586	0.58994	0.0:0.163:0.837:0.0	.	116;537;949	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	G	949	ENSP00000259569:R949G	ENSP00000259569:R949G	R	-	1	0	RANBP6	6002763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.967000	0.56802	1.507000	0.48752	0.650000	0.86243	CGT	RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.413	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1		0	37	0	G	NM_012416		6012763	-1			no_errors	ENST00000259569	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	C	C	6012763	G	C	6012763	3	2	140	1	0	0	0	0	1	0	0	0	13076	1058	37	5	476	5	RANBP6	9	6012763	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09		6012763	135200668	77	35695											
KIAA1797	54914	genome.wustl.edu	37	chr9	20944647	20944647	+	Silent	SNP	T	T	C	0	1	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	acgggctgtatattgggagtTggacttgttctgtccctcat	6	15	12	8	1	2	0	1	0	1	0	3	2	3	2	1	3	0	4	1	3	2	6			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:20944647T>C	ENST00000380249.1	+	31	3793	c.3429T>C	c.(3427-3429)gtT>gtC	p.V1143V	FOCAD_ENST00000605086.1_Silent_p.V579V|FOCAD_ENST00000338382.6_Silent_p.V1143V	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1143						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TATTGGGAGTTGGACTTGTTC	0.493																																																	0													138	119	126					9																	20944647		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3429T>C	9.37:g.20944647T>C			D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.V1143	ENST00000380249.1	37	c.3429	CCDS34993.1	9																																																																																			FOCAD	-	superfamily_ARM-type_fold	ENSG00000188352		0.493	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1		0	41	0	T	NM_017794		20944647	1			no_errors	ENST00000338382	ensembl	human	known	74_37	silent	6.90	54	4	SNP	1.000	C	C	20944647	T	C	20944647	2	2	140	1	0	0	0	0	0	0	0	1	8285	1799	63	4		4	KIAA1797	9	20944647	Silent	SNP	T	TCGA-R6-A6DQ-01B-11D-A31U-09	14931884	20944647	120268784	78	35696											
CDKN2A	1029	genome.wustl.edu	37	chr9	21974668	21974668	+	Intron	SNP	T	T	A																															cctgctcccgctgcagacccTctacccacctggatcggcct																										TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:21974668T>A	ENST00000304494.5	-	1	421				CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000446177.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(12)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTGCAGACCCTCTACCCACCT	0.657		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1329	Whole gene deletion(1316)|Unknown(12)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(277)|skin(167)|central_nervous_system(162)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											104	122	116					9																	21974668		2203	4300	6503	SO:0001627	intron_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.150+8A>T	9.37:g.21974668T>A			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.R53S	ENST00000304494.5	37	c.159	CCDS6510.1	9																																																																																			CDKN2A	-	NULL	ENSG00000147889		0.657	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0	22	0	T	NM_000077		21974668	-1			no_errors	ENST00000380151	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.000	A	A	21974668	T	A	21974668	1	1	140	0	1	0	0	0	0	0	0	0	3168	1548	54	5		5	CDKN2A	9	21974668	Intron	SNP	T	TCGA-R6-A6DQ-01B-11D-A31U-09	1030021	21974668	119238763	79	35697	129	2									
CDKN2A	1029	genome.wustl.edu	37	chr9	21974670	21974670	+	Intron	SNP	T	T	G																															tgctcccgctgcagaccctcTacccacctggatcggcctcc																										TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:21974670T>G	ENST00000304494.5	-	1	421				CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000446177.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(12)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACCCTCTACCCACCTGG	0.662		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1329	Whole gene deletion(1316)|Unknown(12)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(277)|skin(167)|central_nervous_system(162)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											100	118	112					9																	21974670		2203	4300	6503	SO:0001627	intron_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.150+6A>C	9.37:g.21974670T>G			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Silent	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.R53	ENST00000304494.5	37	c.157	CCDS6510.1	9																																																																																			CDKN2A	-	NULL	ENSG00000147889		0.662	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0	20	0	T	NM_000077		21974670	-1			no_errors	ENST00000380151	ensembl	human	known	74_37	silent	23.53	13	4	SNP	0.000	G	G	21974670	T	G	21974670	1	3	140	0	1	0	0	0	0	0	0	0	3168	1530	53	4		4	CDKN2A	9	21974670	Intron	SNP	T	TCGA-R6-A6DQ-01B-11D-A31U-09	2	21974670	119238761	80	35698	129	2									
HNRNPK	3190	genome.wustl.edu	37	chr9	86587852	86587852	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcagtggaatgaggacaGcattcctggaaaagcttgat	12	10	12	7	0	1	2	1	2	0	0	2	5	2	5	1	3	2	2	1	3	3	2	rs563593756	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:86587852G>T	ENST00000376264.2	-	10	810	c.552C>A	c.(550-552)tgC>tgA	p.C184*	HNRNPK_ENST00000360384.5_Nonsense_Mutation_p.C184*|HNRNPK_ENST00000376263.3_Nonsense_Mutation_p.C184*|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Nonsense_Mutation_p.C184*|HNRNPK_ENST00000376281.4_Nonsense_Mutation_p.C184*	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	184	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						AATGAGGACAGCATTCCTGGA	0.363																																																	0													54	55	55					9																	86587852		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.552C>A	9.37:g.86587852G>T	ENSP00000365440:p.Cys184*		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Nonsense_Mutation	SNP	pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1	p.C184*	ENST00000376264.2	37	c.552	CCDS6667.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.170181	0.94768	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	.	.	.	5.13	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8556	10.27	0.43477	0.1826:0.0:0.8174:0.0	.	.	.	.	X	184;184;184;184;184;149;184;179;160;115	.	ENSP00000317788:C184X	C	-	3	2	HNRNPK	85777672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.001000	0.29783	1.039000	0.40074	0.655000	0.94253	TGC	HNRNPK	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000165119		0.363	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	HGNC	protein_coding	OTTHUMT00000052846.2		0	78	0	G			86587852	-1			no_errors	ENST00000376263	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	1.000	T	T	86587852	G	T	86587852	4	4	140	1	0	0	0	0	0	1	0	0	7296	963	34	3	909	3	HNRNPK	9	86587852	Nonsense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	64613182	86587852	54625579	81	35699											
PHF2	5253	genome.wustl.edu	37	chr9	96429413	96429413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatcgacacagacaccaagCccggccgcaatgccagagtc	13	3	9	16	3	0	2	0	0	0	2	2	3	0	2	4	1	2	1	4	1	2	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:96429413C>T	ENST00000359246.4	+	17	2606	c.2239C>T	c.(2239-2241)Ccc>Tcc	p.P747S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	747					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)		AGACACCAAGCCCGGCCGCAA	0.632																																																	0													56	55	56					9																	96429413		2203	4300	6503	SO:0001583	missense	0			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.2239C>T	9.37:g.96429413C>T	ENSP00000352185:p.Pro747Ser		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.P747S	ENST00000359246.4	37	c.2239	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	c	15.18	2.757342	0.49468	.	.	ENSG00000197724	ENST00000359246	T	0.16897	2.31	4.99	4.99	0.66335	.	0.118209	0.64402	D	0.000018	T	0.36276	0.0961	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.824	T	0.08066	-1.0740	10	0.56958	D	0.05	-22.8252	18.2858	0.90113	0.0:1.0:0.0:0.0	.	166;747	Q8N359;O75151	.;PHF2_HUMAN	S	747	ENSP00000352185:P747S	ENSP00000352185:P747S	P	+	1	0	PHF2	95469234	1.000000	0.71417	0.996000	0.52242	0.304000	0.27724	4.350000	0.59392	2.307000	0.77673	0.298000	0.19748	CCC	PHF2	-	NULL	ENSG00000197724		0.632	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1		0	74	0	C	NM_005392		96429413	1			no_errors	ENST00000359246	ensembl	human	known	74_37	missense	6.02	78	5	SNP	1.000	T	T	96429413	C	T	96429413	3	4	140	1	0	0	0	0	1	0	0	0	11869	739	26	3	2305	3	PHF2	9	96429413	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	9841561	96429413	44784018	82	35700											
C5	727	genome.wustl.edu	37	chr9	123738997	123738997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgggttgaataaaagccaCctccatacctctgctcttct	9	12	6	14	0	3	1	0	1	3	0	4	1	4	1	5	1	3	2	5	1	4	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:123738997C>T	ENST00000223642.1	-	29	3874	c.3845G>A	c.(3844-3846)gGt>gAt	p.G1282D		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)	ATAAAAGCCACCTCCATACCT	0.413																																																	0													143	142	143					9																	123738997		2203	4300	6503	SO:0001583	missense	0			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.3845G>A	9.37:g.123738997C>T	ENSP00000223642:p.Gly1282Asp		Q14CJ0|Q27I61	Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom	p.G1282D	ENST00000223642.1	37	c.3845	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214361	0.79352	.	.	ENSG00000106804	ENST00000223642	T	0.67345	-0.26	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	0.999999	D	0.89917	1.0	D	0.80764	0.994	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	D	1282	ENSP00000223642:G1282D	ENSP00000223642:G1282D	G	-	2	0	C5	122778818	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	5.446000	0.66600	2.501000	0.84356	0.563000	0.77884	GGT	C5	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000106804		0.413	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1		0	45	0	C	NM_001735		123738997	-1			no_errors	ENST00000223642	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.998	T	T	123738997	C	T	123738997	3	4	140	1	0	0	0	0	1	0	0	0	2287	507	18	3	1237	3	C5	9	123738997	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	27309584	123738997	17474434	83	35701											
STXBP1	6812	genome.wustl.edu	37	chr9	130428493	130428493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctggatcgaggctttGaccccagctcccctgtgctc	5	11	10	15	1	0	2	0	2	0	0	4	4	2	3	5	2	2	3	5	2	0	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:130428493G>T	ENST00000373299.1	+	9	827	c.712G>T	c.(712-714)Gac>Tac	p.D238Y	STXBP1_ENST00000373302.3_Missense_Mutation_p.D238Y	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	238					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)	p.D238H(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCGAGGCTTTGACCCCAGCTC	0.517																																																	2	Substitution - Missense(2)	lung(2)											111	96	101					9																	130428493		2203	4300	6503	SO:0001583	missense	0			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.712G>T	9.37:g.130428493G>T	ENSP00000362396:p.Asp238Tyr		B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.D238Y	ENST00000373299.1	37	c.712	CCDS35146.1	9	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937227	0.92458	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	D;D	0.96491	-4.03;-4.03	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	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	D	0.99470	1.0945	10	0.87932	D	0	-15.9351	17.3903	0.87428	0.0:0.0:1.0:0.0	.	238;238	P61764;P61764-2	STXB1_HUMAN;.	Y	192;238;70;238	ENSP00000362399:D238Y;ENSP00000362396:D238Y	ENSP00000362396:D238Y	D	+	1	0	STXBP1	129468314	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.758000	0.98927	2.717000	0.92951	0.655000	0.94253	GAC	STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136854		0.517	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1		0	32	0	G	NM_003165		130428493	1			no_errors	ENST00000373299	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	130428493	G	T	130428493	3	4	140	1	0	0	0	0	1	0	0	0	15399	1290	45	3	746	3	STXBP1	9	130428493	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	6689496	130428493	10784938	84	35702											
FUBP3	8939	genome.wustl.edu	37	chr9	133510070	133510070	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaggccagcagagccagccGcagagcagccagcccaacta	13	1	11	16	1	0	2	0	0	0	2	0	2	0	2	5	1	7	3	5	1	2	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:133510070G>A	ENST00000319725.9	+	17	1602	c.1527G>A	c.(1525-1527)ccG>ccA	p.P509P		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	509					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)		AGAGCCAGCCGCAGAGCAGCC	0.627																																																	0													38	49	45					9																	133510070		2041	4194	6235	SO:0001819	synonymous_variant	0			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.1527G>A	9.37:g.133510070G>A			A3KFK8|A3KFL0|Q92946|Q9BVB6	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.P509	ENST00000319725.9	37	c.1527	CCDS43893.1	9																																																																																			FUBP3	-	NULL	ENSG00000107164		0.627	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1		0	37	0	G			133510070	1			no_errors	ENST00000319725	ensembl	human	known	74_37	silent	37.93	18	11	SNP	1.000	A	A	133510070	G	A	133510070	2	1	140	1	0	0	0	0	0	0	0	1	6117	1074	38	1		1	FUBP3	9	133510070	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	3081577	133510070	7703361	85	35703											
CUBN	8029	genome.wustl.edu	37	chr10	16870956	16870956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagcaacaaggacccactCgcagtacgtgttgtttgggt	10	9	13	9	2	0	0	0	0	0	0	1	2	0	2	1	3	3	5	1	3	3	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:16870956C>T	ENST00000377833.4	-	66	10677	c.10612G>A	c.(10612-10614)Gag>Aag	p.E3538K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3538	CUB 27. {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)	AGGACCCACTCGCAGTACGTG	0.507																																																	0													164	120	135					10																	16870956		2203	4300	6503	SO:0001583	missense	0			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.10612G>A	10.37:g.16870956C>T	ENSP00000367064:p.Glu3538Lys		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.E3538K	ENST00000377833.4	37	c.10612	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765906	0.69878	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.28666	1.6	5.94	5.94	0.96194	CUB (5);	0.000000	0.45867	D	0.000327	T	0.52354	0.1729	M	0.69185	2.1	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.30966	-0.9960	10	0.27082	T	0.32	.	18.5438	0.91039	0.0:1.0:0.0:0.0	.	3538	O60494	CUBN_HUMAN	K	3538;379	ENSP00000367064:E3538K	ENSP00000367064:E3538K	E	-	1	0	CUBN	16910962	1.000000	0.71417	0.847000	0.33407	0.030000	0.12068	6.031000	0.70911	2.826000	0.97356	0.561000	0.74099	GAG	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.507	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1		0	55	0	C	NM_001081		16870956	-1			no_errors	ENST00000377833	ensembl	human	known	74_37	missense	9.09	60	6	SNP	1.000	T	T	16870956	C	T	16870956	3	4	140	1	0	0	0	0	1	0	0	0	4060	893	31	1	267	1	CUBN	10	16870956	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09		16870956	118663791	86	35704											
KIAA1217	56243	genome.wustl.edu	37	chr10	24835061	24835061	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccatctttcattctcaccGcagagtcaaaatggccgagc	11	9	7	14	2	4	1	3	0	2	1	5	2	4	1	3	1	1	1	3	1	2	2	rs570245552		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:24835061G>T	ENST00000376454.3	+	21	5670	c.5640G>T	c.(5638-5640)ccG>ccT	p.P1880P	KIAA1217_ENST00000376462.1_Silent_p.P1201P|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000458595.1_Silent_p.P1286P|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Silent_p.P1311P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1880	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.P1880P(1)		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						CATTCTCACCGCAGAGTCAAA	0.527																																																	1	Substitution - coding silent(1)	large_intestine(1)											158	135	143					10																	24835061		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5640G>T	10.37:g.24835061G>T			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	pfam_AIP3_C	p.P1880	ENST00000376454.3	37	c.5640	CCDS31165.1	10																																																																																			KIAA1217	-	NULL	ENSG00000120549		0.527	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2		0	65	0	G	NM_019590		24835061	1			no_errors	ENST00000376454	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.945	T	T	24835061	G	T	24835061	2	4	140	1	0	0	0	0	0	0	0	1	8243	1074	38	2		2	KIAA1217	10	24835061	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	7964105	24835061	110699686	87	35705											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37442563	37442563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctacacatcaaaaagaaAtagataaaataaatggaaaa	25	6	6	4	0	1	2	1	0	0	2	1	3	1	3	0	2	1	1	0	2	11	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:37442563A>G	ENST00000602533.1	+	13	1702	c.1603A>G	c.(1603-1605)Ata>Gta	p.I535V	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I535V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I535V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	591					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						TCAAAAAGAAATAGATAAAAT	0.313																																																	0													129	130	130					10																	37442563		1794	4055	5849	SO:0001583	missense	0			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.1603A>G	10.37:g.37442563A>G	ENSP00000473551:p.Ile535Val		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I535V	ENST00000602533.1	37	c.1603		10	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.815191	0.00004	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05319	3.46;3.46	1.29	-2.58	0.06228	.	.	.	.	.	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.39143	-0.9628	9	0.25106	T	0.35	.	0.4732	0.00535	0.3381:0.1868:0.2893:0.1858	.	591	Q9BXX3	AN30A_HUMAN	V	535	ENSP00000354432:I535V;ENSP00000363792:I535V	ENSP00000354432:I535V	I	+	1	0	ANKRD30A	37482569	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.645000	0.05409	-3.018000	0.00270	-2.526000	0.00183	ATA	ANKRD30A	-	NULL	ENSG00000148513		0.313	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2		0	148	0	A	NM_052997		37442563	1			no_errors	ENST00000361713	ensembl	human	known	74_37	missense	26.97	111	41	SNP	0.000	G	G	37442563	A	G	37442563	3	3	140	1	0	0	0	0	1	0	0	0	658	101	4	4	1653	4	ANKRD30A	10	37442563	Missense_Mutation	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	12607502	37442563	98092184	88	35706											
CSGALNACT2	55454	genome.wustl.edu	37	chr10	43678922	43678922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacctgggaatgctggtcTtcagggaggaaatagagacg	11	7	14	9	1	2	1	1	0	1	1	2	5	2	4	2	4	1	1	2	4	3	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:43678922T>C	ENST00000374466.3	+	8	1896	c.1561T>C	c.(1561-1563)Ttc>Ctc	p.F521L		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	521					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)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGCTGGTCTTCAGGGAGGA	0.483																																																	0													108	105	106					10																	43678922		2203	4300	6503	SO:0001583	missense	0			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.1561T>C	10.37:g.43678922T>C	ENSP00000363590:p.Phe521Leu		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.F521L	ENST00000374466.3	37	c.1561	CCDS7201.1	10	.	.	.	.	.	.	.	.	.	.	T	35	5.488614	0.96323	.	.	ENSG00000169826	ENST00000374466	T	0.47869	0.83	5.87	5.87	0.94306	.	0.088848	0.85682	D	0.000000	T	0.66376	0.2783	M	0.67953	2.075	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.65331	-0.6194	10	0.42905	T	0.14	-13.0504	16.5764	0.84681	0.0:0.0:0.0:1.0	.	521	Q8N6G5	CGAT2_HUMAN	L	521	ENSP00000363590:F521L	ENSP00000363590:F521L	F	+	1	0	CSGALNACT2	42998928	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.536000	0.82023	2.371000	0.80710	0.533000	0.62120	TTC	CSGALNACT2	-	NULL	ENSG00000169826		0.483	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1		0	57	0	T	NM_018590		43678922	1			no_errors	ENST00000374466	ensembl	human	known	74_37	missense	40.35	34	23	SNP	1.000	C	C	43678922	T	C	43678922	3	2	140	1	0	0	0	0	1	0	0	0	3948	1609	56	4	1587	4	CSGALNACT2	10	43678922	Missense_Mutation	SNP	T	TCGA-R6-A6DQ-01B-11D-A31U-09	6236359	43678922	91855825	89	35707											
LRRTM3	347731	genome.wustl.edu	37	chr10	68857466	68857466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaatgcacaggaagataCgatggaaacacacctagaga	19	4	10	8	2	0	2	0	0	0	2	0	7	0	4	1	2	4	1	1	2	6	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:68857466C>T	ENST00000361320.4	+	3	2236	c.1658C>T	c.(1657-1659)aCg>aTg	p.T553M	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	553					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGGAAGATACGATGGAAACA	0.468																																																	0													169	146	153					10																	68857466		2203	4300	6503	SO:0001583	missense	0			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1658C>T	10.37:g.68857466C>T	ENSP00000355187:p.Thr553Met		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.T553M	ENST00000361320.4	37	c.1658	CCDS7270.1	10	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784750	0.31593	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.74842	-0.88	5.92	5.02	0.67125	.	0.133465	0.34484	N	0.003921	T	0.47358	0.1441	N	0.08118	0	0.32405	N	0.551396	P	0.42584	0.784	B	0.15484	0.013	T	0.63871	-0.6539	10	0.66056	D	0.02	.	12.4432	0.55637	0.0:0.9217:0.0:0.0783	.	553	Q86VH5	LRRT3_HUMAN	M	553	ENSP00000355187:T553M	ENSP00000355187:T553M	T	+	2	0	LRRTM3	68527472	0.940000	0.31905	1.000000	0.80357	0.995000	0.86356	2.017000	0.40981	1.528000	0.49103	0.650000	0.86243	ACG	LRRTM3	-	NULL	ENSG00000198739		0.468	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2		0	43	0	C	NM_178011		68857466	1			no_errors	ENST00000361320	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	68857466	C	T	68857466	3	4	140	1	0	0	0	0	1	0	0	0	9076	536	19	1	1668	1	LRRTM3	10	68857466	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	25178544	68857466	66677281	90	35708											
TACR2	6865	genome.wustl.edu	37	chr10	71166848	71166848	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggggctcacctgtggttGagacagcagtagatgatggg	8	9	18	6	0	1	3	1	2	0	2	1	4	1	3	1	4	1	4	1	4	1	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:71166848G>A	ENST00000373306.4	-	4	1473	c.930C>T	c.(928-930)ctC>ctT	p.L310L	TACR2_ENST00000373307.1_Silent_p.L98L	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	310					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						ACCTGTGGTTGAGACAGCAGT	0.592																																																	0													163	142	149					10																	71166848		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"GPCR / Class A : Tachykinin receptors"	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.930C>T	10.37:g.71166848G>A			A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L310	ENST00000373306.4	37	c.930	CCDS7293.1	10																																																																																			TACR2	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	ENSG00000075073		0.592	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR2	HGNC	protein_coding	OTTHUMT00000048411.1		0	47	0	G			71166848	-1			no_errors	ENST00000373306	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.990	A	A	71166848	G	A	71166848	2	1	140	1	0	0	0	0	0	0	0	1	15553	1277	45	3		3	TACR2	10	71166848	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	2309382	71166848	64367899	91	35709											
NRG3	10718	genome.wustl.edu	37	chr10	83635583	83635583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctcgcctgaccaccatcacgCgggcgcccactcgcttcccc	5	6	8	22	5	1	1	1	1	0	0	4	1	2	1	6	1	0	1	6	1	0	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:83635583C>T	ENST00000404547.1	+	1	487	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.R163W|NRG3_ENST00000404576.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	163	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)	p.R163W(1)		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)		CACCATCACGCGGGCGCCCAC	0.736																																																	1	Substitution - Missense(1)	lung(1)											30	36	34					10																	83635583		2201	4297	6498	SO:0001583	missense	0			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.487C>T	10.37:g.83635583C>T	ENSP00000384796:p.Arg163Trp		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.R163W	ENST00000404547.1	37	c.487	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697320	0.68386	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.34472	1.36;1.38	3.23	3.23	0.37069	.	0.240030	0.19831	U	0.105095	T	0.40932	0.1137	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67548	0.952;0.952	T	0.30880	-0.9963	10	0.45353	T	0.12	-5.2452	12.3554	0.55171	0.0:1.0:0.0:0.0	.	163;163	B9EGV5;P56975-4	.;.	W	163	ENSP00000361214:R163W;ENSP00000384796:R163W	ENSP00000361214:R163W	R	+	1	2	NRG3	83625563	0.414000	0.25408	1.000000	0.80357	0.980000	0.70556	0.369000	0.20416	1.808000	0.52836	0.478000	0.44815	CGG	NRG3	-	NULL	ENSG00000185737		0.736	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1		0	30	0	C	XM_166086		83635583	1			no_errors	ENST00000404547	ensembl	human	known	74_37	missense	39.39	20	13	SNP	1.000	T	T	83635583	C	T	83635583	3	4	140	1	0	0	0	0	1	0	0	0	10688	759	27	1	489	1	NRG3	10	83635583	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	12468735	83635583	51899164	92	35710											
DCHS1	8642	genome.wustl.edu	37	chr11	6648208	6648208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctacaggagagcgggccacgCggatttcaccagtgtaagag	11	6	14	10	3	1	2	1	0	0	2	1	4	1	3	2	3	2	1	2	3	2	3	rs141121553		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:6648208C>T	ENST00000299441.3	-	14	6473	c.6062G>A	c.(6061-6063)cGc>cAc	p.R2021H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2021	Cadherin 19. {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)		GCGGGCCACGCGGATTTCACC	0.587													C|||	1	0.000199681	0	0	5008	,	,		18116	0		0	False		,,,				2504	0.001																0								C	HIS/ARG	0,4402		0,0,2201	49	43	45		6062	5.2	1	11	dbSNP_134	45	3,8589	3.0+/-9.4	0,3,4293	yes	missense	DCHS1	NM_003737.2	29	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	2021/3299	6648208	3,12991	2201	4296	6497	SO:0001583	missense	0			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.6062G>A	11.37:g.6648208C>T	ENSP00000299441:p.Arg2021His		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R2021H	ENST00000299441.3	37	c.6062	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799332	0.70567	0.0	3.49E-4	ENSG00000166341	ENST00000299441	T	0.61627	0.09	5.18	5.18	0.71444	Cadherin (3);Cadherin-like (1);	0.000000	0.47852	D	0.000216	T	0.47655	0.1457	M	0.73430	2.235	0.47905	D	0.999544	P	0.40107	0.703	B	0.23716	0.048	T	0.48019	-0.9071	10	0.15952	T	0.53	.	11.4317	0.50045	0.0:0.9147:0.0:0.0853	.	2021	Q96JQ0	PCD16_HUMAN	H	2021	ENSP00000299441:R2021H	ENSP00000299441:R2021H	R	-	2	0	DCHS1	6604784	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	3.523000	0.53488	2.700000	0.92200	0.462000	0.41574	CGC	DCHS1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1		0	35	0	C	NM_003737		6648208	-1			no_errors	ENST00000299441	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.985	T	T	6648208	C	T	6648208	3	4	140	1	0	0	0	0	1	0	0	0	4296	768	27	1	3866	1	DCHS1	11	6648208	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09		6648208	128358308	93	35711											
SLC22A12	116085	genome.wustl.edu	37	chr11	64359361	64359361	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccagctggagcgaggcCgacacggagccgtgtgtgga	8	4	17	12	4	0	0	0	0	0	0	0	5	0	3	4	4	3	1	4	4	0	0	rs146095398		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:64359361C>T	ENST00000377574.1	+	1	1080	c.333C>T	c.(331-333)gcC>gcT	p.A111A	SLC22A12_ENST00000336464.7_Silent_p.A111A|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Silent_p.A111A|SLC22A12_ENST00000377572.1_Silent_p.A111A	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	111					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GGAGCGAGGCCGACACGGAGC	0.682																																																	0								T	,	2,4400	4.2+/-10.8	0,2,2199	31	35	34		333,	-8.8	0	11	dbSNP_134	34	0,8594		0,0,4297	no	coding-synonymous,utr-5	SLC22A12	NM_144585.2,NM_153378.1	,	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	,	111/554,	64359361	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	0			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.333C>T	11.37:g.64359361C>T			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A111	ENST00000377574.1	37	c.333	CCDS8075.1	11																																																																																			SLC22A12	-	pfscan_MFS_dom	ENSG00000197891		0.682	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2		0	29	0	C	NM_144585		64359361	1			no_errors	ENST00000377574	ensembl	human	known	74_37	silent	50.00	13	13	SNP	0.000	T	T	64359361	C	T	64359361	2	4	140	1	0	0	0	0	0	0	0	1	14488	639	23	1		1	SLC22A12	11	64359361	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	57711153	64359361	70647155	94	35712											
UNC93B1	81622	genome.wustl.edu	37	chr11	67759196	67759196	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctcctccaagtagcggtAaccgcgcaccttgtgctggg	6	9	12	14	3	0	0	0	0	0	0	3	0	3	0	5	2	3	4	5	2	3	3	rs2375178		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:67759196A>C	ENST00000227471.2	-	12	1691	c.1612T>G	c.(1612-1614)Tac>Gac	p.Y538D	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	539					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.Y538D(1)									AAGTAGCGGTAACCGCGCACC	0.756																																																	1	Substitution - Missense(1)	central_nervous_system(1)											1	1	1					11																	67759196		520	1233	1753	SO:0001583	missense	0			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1612T>G	11.37:g.67759196A>C	ENSP00000227471:p.Tyr538Asp		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.Y538D	ENST00000227471.2	37	c.1612		11	.	.	.	.	.	.	.	.	.	.	.	16.53	3.149028	0.57151	.	.	ENSG00000110057	ENST00000227471	T	0.07908	3.15	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	.	.	.	0.39442	D	0.967255	D	0.76494	0.999	D	0.65233	0.933	T	0.01382	-1.1369	8	.	.	.	-10.7865	12.2398	0.54536	1.0:0.0:0.0:0.0	rs2375178	539	Q9H1C4	UN93B_HUMAN	D	538	ENSP00000227471:Y538D	.	Y	-	1	0	UNC93B1	67515772	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	8.029000	0.88807	1.790000	0.52503	0.402000	0.26972	TAC	UNC93B1	-	NULL	ENSG00000110057		0.756	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding			0	18	0	A	NM_030930		67759196	-1			no_errors	ENST00000227471	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	C	C	67759196	A	C	67759196	3	2	140	1	0	0	0	0	1	0	0	0	17046	362	13	4	182	4	UNC93B1	11	67759196	Missense_Mutation	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	3399835	67759196	67247320	95	35713											
MYO7A	4647	genome.wustl.edu	37	chr11	76893003	76893003	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgtctccttcaggacctgGagcgagggcggagggagatg	7	8	17	9	2	2	1	1	0	1	1	3	6	2	4	2	5	1	0	2	5	0	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:76893003G>T	ENST00000409709.3	+	24	3183	c.2911G>T	c.(2911-2913)Gag>Tag	p.E971*	MYO7A_ENST00000409893.1_Nonsense_Mutation_p.E971*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.E960*|MYO7A_ENST00000458637.2_Nonsense_Mutation_p.E971*	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						TCAGGACCTGGAGCGAGGGCG	0.587																																																	0													49	58	55					11																	76893003		2085	4201	6286	SO:0001587	stop_gained	0			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.2911G>T	11.37:g.76893003G>T	ENSP00000386331:p.Glu971*		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.E971*	ENST00000409709.3	37	c.2911	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	.	36	5.720392	0.96839	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.6347	0.91372	0.0:0.0:1.0:0.0	.	.	.	.	X	971;971;971;960;182;970;970;847;970;152	.	ENSP00000345075:E847X	E	+	1	0	MYO7A	76570651	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.396000	0.97270	2.396000	0.81511	0.549000	0.68633	GAG	MYO7A	-	NULL	ENSG00000137474		0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1		0	55	0	G	NM_000260		76893003	1			no_errors	ENST00000409709	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	T	T	76893003	G	T	76893003	4	4	140	1	0	0	0	0	0	1	0	0	10120	1175	41	3	3001	3	MYO7A	11	76893003	Nonsense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	9133807	76893003	58113513	96	35714											
FAT3	120114	genome.wustl.edu	37	chr11	92577542	92577542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacatgcatgggttccGgcgcaccctgcggaatgcag	7	7	14	13	3	0	0	0	0	0	0	1	1	1	1	2	3	4	6	2	3	1	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:92577542G>A	ENST00000298047.6	+	18	11026	c.11009G>A	c.(11008-11010)cGg>cAg	p.R3670Q	FAT3_ENST00000409404.2_Missense_Mutation_p.R3670Q|FAT3_ENST00000533797.1_Missense_Mutation_p.R5Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R3520Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3670					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)				CATGGGTTCCGGCGCACCCTG	0.582										TCGA Ovarian(4;0.039)																																							0													47	50	49					11																	92577542		2156	4261	6417	SO:0001583	missense	0			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.11009G>A	11.37:g.92577542G>A	ENSP00000298047:p.Arg3670Gln		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R3670Q	ENST00000298047.6	37	c.11009		11	.	.	.	.	.	.	.	.	.	.	G	9.645	1.140000	0.21205	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.84873	3.08;3.08;3.08;-1.91	5.83	5.83	0.93111	.	.	.	.	.	D	0.83092	0.5179	N	0.16656	0.425	0.80722	D	1	D;B	0.63880	0.993;0.015	P;B	0.52267	0.694;0.003	T	0.82782	-0.0287	9	0.36615	T	0.2	.	20.1237	0.97972	0.0:0.0:1.0:0.0	.	3670;3670	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Q	3670;3670;3520;5	ENSP00000298047:R3670Q;ENSP00000387040:R3670Q;ENSP00000432586:R3520Q;ENSP00000436399:R5Q	ENSP00000298047:R3670Q	R	+	2	0	FAT3	92217190	1.000000	0.71417	0.992000	0.48379	0.419000	0.31324	4.466000	0.60148	2.759000	0.94783	0.561000	0.74099	CGG	FAT3	-	NULL	ENSG00000165323		0.582	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding			0	38	0	G	NM_001008781		92577542	1			no_errors	ENST00000298047	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	A	A	92577542	G	A	92577542	3	1	140	1	0	0	0	0	1	0	0	0	5713	1116	39	1	11079	1	FAT3	11	92577542	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	15684539	92577542	42428974	97	35715											
HSPB2	3316	genome.wustl.edu	37	chr11	111784266	111784266	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagggcaggggcctccGagcttaggctcagtgagggc	7	5	18	11	1	1	1	1	1	0	0	2	2	2	1	2	5	2	5	2	5	1	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:111784266G>T	ENST00000304298.3	+	2	784	c.196G>T	c.(196-198)Gag>Tag	p.E66*	CRYAB_ENST00000531198.1_5'Flank|CRYAB_ENST00000533280.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000533971.1_5'Flank|HSPB2_ENST00000537382.1_Nonsense_Mutation_p.E66*|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000533475.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000525823.1_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	66					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)	p.E66K(1)		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)		AGGGGCCTCCGAGCTTAGGCT	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											92	95	94					11																	111784266		2201	4297	6498	SO:0001587	stop_gained	0			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.196G>T	11.37:g.111784266G>T	ENSP00000302476:p.Glu66*		Q6I9U7	Nonsense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.E66*	ENST00000304298.3	37	c.196	CCDS8352.1	11	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946306	0.92593	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	.	.	.	4.84	4.84	0.62591	.	0.220264	0.38548	N	0.001651	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-13.2361	18.4921	0.90852	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000302476:E66X	E	+	1	0	HSPB2	111289476	1.000000	0.71417	0.959000	0.39883	0.985000	0.73830	5.482000	0.66833	2.688000	0.91661	0.650000	0.86243	GAG	HSPB2	-	superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	ENSG00000170276		0.617	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB2	Uniprot_gn	protein_coding	OTTHUMT00000391669.1		0	26	0	G			111784266	1			no_errors	ENST00000304298	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.987	T	T	111784266	G	T	111784266	4	4	140	1	0	0	0	0	0	1	0	0	7447	1059	37	2	202	2	HSPB2	11	111784266	Nonsense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	19206724	111784266	23222250	98	35716											
CBL	867	genome.wustl.edu	37	chr11	119155736	119155736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagcttcccttcccccggtgCcaccacgacttgaccttctg	6	10	7	18	2	1	1	0	1	1	0	3	2	3	1	6	1	2	1	6	1	1	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:119155736C>T	ENST00000264033.4	+	10	1865	c.1489C>T	c.(1489-1491)Cca>Tca	p.P497S		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	497	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCCGGTGCCACCACGACT	0.498			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0													95	88	90					11																	119155736		2199	4295	6494	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1489C>T	11.37:g.119155736C>T	ENSP00000264033:p.Pro497Ser	1494	A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.P497S	ENST00000264033.4	37	c.1489	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804579	0.70682	.	.	ENSG00000110395	ENST00000264033	D	0.84298	-1.83	5.34	5.34	0.76211	.	0.049752	0.85682	D	0.000000	D	0.92420	0.7594	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91662	0.5343	10	0.45353	T	0.12	-35.2154	18.8226	0.92103	0.0:1.0:0.0:0.0	.	497	P22681	CBL_HUMAN	S	497	ENSP00000264033:P497S	ENSP00000264033:P497S	P	+	1	0	CBL	118660946	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.021000	0.76425	2.780000	0.95670	0.585000	0.79938	CCA	CBL	-	NULL	ENSG00000110395		0.498	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4		0	43	0	C	NM_005188		119155736	1			no_errors	ENST00000264033	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	119155736	C	T	119155736	3	4	140	1	0	0	0	0	1	0	0	0	2707	739	26	3	1527	3	CBL	11	119155736	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	7371470	119155736	15850780	99	35717											
GRIK4	2900	genome.wustl.edu	37	chr11	120856618	120856618	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtctcctccaggtgtcCgtctgccaggagatggtgac	5	10	13	13	2	2	2	0	1	2	1	5	3	4	2	4	3	1	1	4	3	0	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:120856618C>T	ENST00000527524.2	+	21	2807	c.2520C>T	c.(2518-2520)tcC>tcT	p.S840S	GRIK4_ENST00000438375.2_Silent_p.S840S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	840					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TCCAGGTGTCCGTCTGCCAGG	0.711																																																	0													5	3	4					11																	120856618		1814	3604	5418	SO:0001819	synonymous_variant	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2520C>T	11.37:g.120856618C>T			A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S840	ENST00000527524.2	37	c.2520	CCDS8433.1	11																																																																																			GRIK4	-	NULL	ENSG00000149403		0.711	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4		0	18	0	C	NM_014619		120856618	1			no_errors	ENST00000527524	ensembl	human	known	74_37	silent	50.00	9	9	SNP	0.922	T	T	120856618	C	T	120856618	2	4	140	1	0	0	0	0	0	0	0	1	6803	639	23	1		1	GRIK4	11	120856618	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	1700882	120856618	14149898	100	35718											
C1S	716	genome.wustl.edu	37	chr12	7175811	7175811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaatgaggtgctgggccCggagctgccgaaatgtgttc	7	9	17	8	2	0	2	0	2	0	0	1	4	0	3	2	4	3	3	2	4	2	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:7175811C>T	ENST00000406697.1	+	14	1875	c.1247C>T	c.(1246-1248)cCg>cTg	p.P416L	C1S_ENST00000402681.3_Missense_Mutation_p.P249L|C1S_ENST00000328916.3_Missense_Mutation_p.P416L|C1S_ENST00000360817.5_Missense_Mutation_p.P416L|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	416	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTGCTGGGCCCGGAGCTGCCG	0.552																																					GBM(156;750 1943 12971 24779 31015)												0													228	179	195					12																	7175811		2203	4300	6503	SO:0001583	missense	0				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1247C>T	12.37:g.7175811C>T	ENSP00000385035:p.Pro416Leu		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P416L	ENST00000406697.1	37	c.1247	CCDS31735.1	12	.	.	.	.	.	.	.	.	.	.	C	5.165	0.216089	0.09810	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.4	-0.35	0.12606	Complement control module (2);Sushi/SCR/CCP (2);	1.415250	0.04689	N	0.413758	T	0.31918	0.0812	N	0.14661	0.345	0.09310	N	1	B	0.19200	0.034	B	0.19391	0.025	T	0.26360	-1.0105	10	0.31617	T	0.26	.	9.552	0.39315	0.0:0.5374:0.0:0.4626	.	416	P09871	C1S_HUMAN	L	416;416;416;410;249	ENSP00000385035:P416L;ENSP00000328173:P416L;ENSP00000354057:P416L;ENSP00000384171:P249L	ENSP00000328173:P416L	P	+	2	0	C1S	7046072	0.000000	0.05858	0.001000	0.08648	0.128000	0.20619	0.319000	0.19522	0.015000	0.14971	0.462000	0.41574	CCG	C1S	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000182326		0.552	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1S	HGNC	protein_coding	OTTHUMT00000317481.1		0	63	0	C	NM_001734		7175811	1			no_errors	ENST00000328916	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.000	T	T	7175811	C	T	7175811	3	4	140	1	0	0	0	0	1	0	0	0	1981	652	23	1	1285	1	C1S	12	7175811	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09		7175811	126676084	101	35719											
CD163	9332	genome.wustl.edu	37	chr12	7635290	7635290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agtcaagaagaataatgcgaCgaaaatggccaacagaacaa	21	4	9	7	2	1	3	1	0	0	3	1	5	1	3	1	1	3	0	1	1	9	1	rs139478533	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:7635290C>T	ENST00000359156.4	-	14	3398	c.3196G>A	c.(3196-3198)Gtc>Atc	p.V1066I	CD163_ENST00000541972.1_Missense_Mutation_p.V1054I|CD163_ENST00000432237.2_Missense_Mutation_p.V1066I|CD163_ENST00000396620.3_Missense_Mutation_p.V1099I|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1066					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)	p.V1066I(1)		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)	AATAATGCGACGAAAATGGCC	0.423													C|||	15	0.00299521	0.0113	0	5008	,	,		-128	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						C	ILE/VAL,ILE/VAL	46,4360	48.9+/-83.8	0,46,2157	130	138	135		3196,3196	-0.6	0	12	dbSNP_134	135	0,8600		0,0,4300	yes	missense,missense	CD163	NM_004244.5,NM_203416.3	29,29	0,46,6457	TT,TC,CC		0.0,1.044,0.3537	benign,benign	1066/1157,1066/1122	7635290	46,12960	2203	4300	6503	SO:0001583	missense	0			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.3196G>A	12.37:g.7635290C>T	ENSP00000352071:p.Val1066Ile		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.V1066I	ENST00000359156.4	37	c.3196	CCDS8578.1	12	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	0.032	-1.330477	0.01298	0.01044	0.0	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01240	5.12;5.14;5.16;5.13	4.32	-0.639	0.11497	.	1.150940	0.06616	N	0.756554	T	0.00440	0.0014	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43523	-0.9386	10	0.02654	T	1	.	7.6763	0.28488	0.0:0.3086:0.0:0.6914	.	1099;1066;1066	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	I	1066;1054;1099;1066	ENSP00000352071:V1066I;ENSP00000444071:V1054I;ENSP00000379863:V1099I;ENSP00000403885:V1066I	ENSP00000352071:V1066I	V	-	1	0	CD163	7526557	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.734000	0.04893	-0.102000	0.12197	-1.193000	0.01689	GTC	CD163	-	NULL	ENSG00000177575		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2		0	24	0	C	NM_004244, NM_203416		7635290	-1			no_errors	ENST00000359156	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.001	T	T	7635290	C	T	7635290	3	4	140	1	0	0	0	0	1	0	0	0	2974	536	19	1	286	1	CD163	12	7635290	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	459479	7635290	126216605	102	35720											
OVCH1	341350	genome.wustl.edu	37	chr12	29604280	29604280	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	tatgccaggaaggattacctGccgtctttctcttactgtgt	7	15	9	10	1	2	0	0	0	2	0	3	2	2	2	3	2	4	0	3	2	4	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:29604280G>C	ENST00000318184.5	-	22	2752	c.2753C>G	c.(2752-2754)gCa>gGa	p.A918G	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	918	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)					AGGATTACCTGCCGTCTTTCT	0.413																																																	0													42	41	41					12																	29604280		1886	4114	6000	SO:0001583	missense	0			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.2753C>G	12.37:g.29604280G>C	ENSP00000326708:p.Ala918Gly			Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A918G	ENST00000318184.5	37	c.2753		12	.	.	.	.	.	.	.	.	.	.	G	6.338	0.430429	0.12045	.	.	ENSG00000187950	ENST00000318184	T	0.34667	1.35	2.64	0.736	0.18307	CUB (5);	.	.	.	.	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	P	0.43826	0.818	B	0.33042	0.157	T	0.11518	-1.0584	9	0.54805	T	0.06	.	3.7919	0.08724	0.1502:0.2567:0.5932:0.0	.	918	Q7RTY7	OVCH1_HUMAN	G	918	ENSP00000326708:A918G	ENSP00000326708:A918G	A	-	2	0	OVCH1	29495547	0.002000	0.14202	0.000000	0.03702	0.097000	0.18754	1.148000	0.31614	0.190000	0.20209	0.455000	0.32223	GCA	OVCH1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000187950		0.413	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2		0	32	0	G	NM_183378		29604280	-1			no_errors	ENST00000318184	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.000	C	C	29604280	G	C	29604280	3	2	140	1	0	0	0	0	1	0	0	0	11362	1319	46	5	679	5	OVCH1	12	29604280	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	21968990	29604280	104247615	103	35721											
KRT79	338785	genome.wustl.edu	37	chr12	53218041	53218041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcaatcagctcatactGggccttgacctcggcgatga	8	9	12	12	2	2	2	2	2	0	0	3	3	2	2	2	3	2	2	2	3	2	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:53218041G>T	ENST00000330553.5	-	5	995	c.961C>A	c.(961-963)Cag>Aag	p.Q321K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	321	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGCTCATACTGGGCCTTGACC	0.612																																																	0													105	91	95					12																	53218041		2203	4300	6503	SO:0001583	missense	0			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.961C>A	12.37:g.53218041G>T	ENSP00000328358:p.Gln321Lys		Q6P465|Q7Z793	Missense_Mutation	SNP	pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II	p.Q321K	ENST00000330553.5	37	c.961	CCDS8839.1	12	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145816	0.57044	.	.	ENSG00000185640	ENST00000330553	T	0.76316	-1.01	3.86	3.86	0.44501	Filament (1);	0.155313	0.30193	N	0.010198	D	0.88548	0.6466	H	0.95470	3.675	0.47308	D	0.999382	P	0.43024	0.798	P	0.50590	0.645	D	0.92146	0.5724	10	0.87932	D	0	.	15.5745	0.76365	0.0:0.0:1.0:0.0	.	321	Q5XKE5	K2C79_HUMAN	K	321	ENSP00000328358:Q321K	ENSP00000328358:Q321K	Q	-	1	0	KRT79	51504308	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	6.480000	0.73604	2.434000	0.82447	0.561000	0.74099	CAG	KRT79	-	pfam_IF	ENSG00000185640		0.612	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT79	HGNC	protein_coding	OTTHUMT00000406376.1		0	72	0	G	NM_175834		53218041	-1			no_errors	ENST00000330553	ensembl	human	known	74_37	missense	54.76	19	23	SNP	1.000	T	T	53218041	G	T	53218041	3	4	140	1	0	0	0	0	1	0	0	0	8519	1357	47	3	666	3	KRT79	12	53218041	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	23613761	53218041	80633854	104	35722											
ANKS1B	56899	genome.wustl.edu	37	chr12	99640199	99640199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatcagatttagagacacTttttgacaaatgcatgtcga	15	12	8	6	1	1	4	1	1	0	3	2	6	1	4	0	0	1	1	0	0	3	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:99640199T>C	ENST00000547776.2	-	13	2199	c.2200A>G	c.(2200-2202)Agt>Ggt	p.S734G	ANKS1B_ENST00000550833.1_5'Flank|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S734G|ANKS1B_ENST00000547010.1_Missense_Mutation_p.S314G	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	734						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)		TTAGAGACACTTTTTGACAAA	0.433																																																	0													127	120	122					12																	99640199		1912	4101	6013	SO:0001583	missense	0			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.2200A>G	12.37:g.99640199T>C	ENSP00000449629:p.Ser734Gly		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S734G	ENST00000547776.2	37	c.2200	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	T	11.30	1.599090	0.28534	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.69040	0.46;-0.37;0.46	5.21	5.21	0.72293	.	0.443887	0.24585	N	0.037270	T	0.56046	0.1959	L	0.32530	0.975	0.80722	D	1	B;B	0.16603	0.018;0.002	B;B	0.31337	0.128;0.01	T	0.51012	-0.8759	9	.	.	.	-0.4339	9.9422	0.41587	0.1512:0.0:0.0:0.8488	.	314;734	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	G	734;314;734;313	ENSP00000449629:S734G;ENSP00000448512:S314G;ENSP00000331381:S734G	.	S	-	1	0	ANKS1B	98164330	1.000000	0.71417	0.910000	0.35882	0.564000	0.35744	4.201000	0.58439	2.090000	0.63153	0.379000	0.24179	AGT	ANKS1B	-	NULL	ENSG00000185046		0.433	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3		0	37	0	T	NM_020140		99640199	-1			no_errors	ENST00000329257	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.952	C	C	99640199	T	C	99640199	3	2	140	1	0	0	0	0	1	0	0	0	689	1609	56	4	1890	4	ANKS1B	12	99640199	Missense_Mutation	SNP	T	TCGA-R6-A6DQ-01B-11D-A31U-09	46422158	99640199	34211696	105	35723											
CCDC63	160762	genome.wustl.edu	37	chr12	111311719	111311719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaggccaataacccccGgaaactgcagaaacagattc	15	4	10	12	1	0	2	0	0	0	2	1	4	0	4	3	3	4	2	3	3	4	2	rs149075085		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:111311719G>T	ENST00000308208.5	+	5	685	c.443G>T	c.(442-444)cGg>cTg	p.R148L	CCDC63_ENST00000552694.1_Missense_Mutation_p.R69L|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Missense_Mutation_p.R108L	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	148								p.R148Q(1)		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						AATAACCCCCGGAAACTGCAG	0.418																																																	1	Substitution - Missense(1)	skin(1)											101	105	104					12																	111311719		2203	4300	6503	SO:0001583	missense	0			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.443G>T	12.37:g.111311719G>T	ENSP00000312399:p.Arg148Leu		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.R148L	ENST00000308208.5	37	c.443	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347446	0.41599	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.32023	1.47;1.47;1.47	5.8	-1.49	0.08718	.	0.872808	0.10206	N	0.702771	T	0.26738	0.0654	M	0.64997	1.995	0.24449	N	0.994497	P;P	0.47191	0.891;0.891	B;B	0.38378	0.272;0.272	T	0.18147	-1.0346	10	0.32370	T	0.25	.	10.2839	0.43556	0.5011:0.0:0.4989:0.0	.	108;148	B4DY03;Q8NA47	.;CCD63_HUMAN	L	108;148;69	ENSP00000445881:R108L;ENSP00000312399:R148L;ENSP00000450217:R69L	ENSP00000312399:R148L	R	+	2	0	CCDC63	109796102	0.001000	0.12720	0.904000	0.35570	0.228000	0.25075	-0.756000	0.04777	-0.634000	0.05538	-0.982000	0.02568	CGG	CCDC63	-	NULL	ENSG00000173093		0.418	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2		0	34	0	G	NM_152591		111311719	1			no_errors	ENST00000308208	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.972	T	T	111311719	G	T	111311719	3	4	140	1	0	0	0	0	1	0	0	0	2841	1116	39	2	457	2	CCDC63	12	111311719	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	11671520	111311719	22540176	106	35724											
EP400	57634	genome.wustl.edu	37	chr12	132446460	132446460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaggaggaggaggaGgaagaggaggaagaaaaatc	20	1	19	1	0	0	4	0	0	0	4	1	12	0	11	0	7	0	0	0	7	6	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:132446460G>T	ENST00000333577.4	+	2	1405	c.1296G>T	c.(1294-1296)gaG>gaT	p.E432D	EP400_ENST00000389561.2_Missense_Mutation_p.E432D|EP400_ENST00000332482.4_Missense_Mutation_p.E432D|EP400_ENST00000330386.6_Missense_Mutation_p.E432D|EP400_ENST00000389562.2_Missense_Mutation_p.E432D			Q96L91	EP400_HUMAN	E1A binding protein p400	432	Poly-Glu.				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)		aggaggaggaggaagaggagg	0.383																																																	0													53	52	52					12																	132446460		2203	4300	6503	SO:0001583	missense	0			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.1296G>T	12.37:g.132446460G>T	ENSP00000333602:p.Glu432Asp		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E432D	ENST00000333577.4	37	c.1296		12	.	.	.	.	.	.	.	.	.	.	G	7.990	0.753032	0.15778	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90620	-2.64;-2.63;-2.64;-2.7;-2.64	3.78	-1.47	0.08772	.	0.054062	0.64402	N	0.000001	T	0.80182	0.4576	N	0.22421	0.69	0.24394	N	0.994735	B;B;B;B;B	0.15141	0.004;0.004;0.004;0.006;0.012	B;B;B;B;B	0.19148	0.007;0.007;0.007;0.024;0.018	T	0.68428	-0.5411	10	0.59425	D	0.04	.	6.4714	0.22009	0.376:0.1177:0.5062:0.0	.	432;432;432;432;432	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	D	432	ENSP00000333602:E432D;ENSP00000374212:E432D;ENSP00000374213:E432D;ENSP00000331737:E432D;ENSP00000330620:E432D	ENSP00000330620:E432D	E	+	3	2	EP400	131012413	0.975000	0.34042	0.887000	0.34795	0.900000	0.52787	-0.103000	0.10940	-0.295000	0.08960	0.561000	0.74099	GAG	EP400	-	NULL	ENSG00000183495		0.383	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding			0	30	0	G	NM_015409		132446460	1			no_errors	ENST00000333577	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.957	T	T	132446460	G	T	132446460	3	4	140	1	0	0	0	0	1	0	0	0	5165	991	35	3	1298	3	EP400	12	132446460	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	21134741	132446460	1405435	107	35725											
MTMR6	9107	genome.wustl.edu	37	chr13	25848273	25848273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtaagatacagtgttcctGttaatgacttgttgctggta	9	15	10	7	1	0	2	0	1	0	1	1	2	1	2	2	1	2	6	2	1	4	7			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr13:25848273G>A	ENST00000381801.5	-	2	838	c.77C>T	c.(76-78)aCa>aTa	p.T26I	MTMR6_ENST00000540661.1_Missense_Mutation_p.T26I	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	26					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)		CAGTGTTCCTGTTAATGACTT	0.328																																																	0													122	117	119					13																	25848273		2203	4300	6503	SO:0001583	missense	0			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.77C>T	13.37:g.25848273G>A	ENSP00000371221:p.Thr26Ile		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.T26I	ENST00000381801.5	37	c.77	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	G	7.910	0.736279	0.15574	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.82081	-1.57;-1.57	5.17	5.17	0.71159	Pleckstrin homology-type (1);	0.220528	0.44688	D	0.000427	T	0.73636	0.3612	L	0.31294	0.92	0.49213	D	0.999761	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.68379	-0.5424	10	0.36615	T	0.2	.	12.4001	0.55407	0.0774:0.0:0.9226:0.0	.	26;26	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	I	26	ENSP00000443161:T26I;ENSP00000371221:T26I	ENSP00000371221:T26I	T	-	2	0	MTMR6	24746273	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	4.104000	0.57790	2.565000	0.86533	0.591000	0.81541	ACA	MTMR6	-	NULL	ENSG00000139505		0.328	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	HGNC	protein_coding	OTTHUMT00000044225.1		0	57	0	G	NM_004685		25848273	-1			no_errors	ENST00000381801	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.997	A	A	25848273	G	A	25848273	3	1	140	1	0	0	0	0	1	0	0	0	9985	1377	48	3	1840	3	MTMR6	13	25848273	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09		25848273	89321605	108	35726											
MYO16	23026	genome.wustl.edu	37	chr13	109540766	109540766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagccagcaaacaaatcataAgacacctcacctgcagggct	16	5	7	13	0	2	1	2	0	0	1	2	1	2	1	3	1	4	3	3	1	4	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr13:109540766A>G	ENST00000357550.2	+	13	1575	c.1534A>G	c.(1534-1536)Aga>Gga	p.R512G	MYO16_ENST00000457511.2_Missense_Mutation_p.R24G|MYO16_ENST00000251041.5_Missense_Mutation_p.R512G|MYO16_ENST00000356711.2_Missense_Mutation_p.R512G	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)			ACAAATCATAAGACACCTCAC	0.433																																																	0													82	88	86					13																	109540766		2203	4300	6503	SO:0001583	missense	0				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.1534A>G	13.37:g.109540766A>G	ENSP00000350160:p.Arg512Gly			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R512G	ENST00000357550.2	37	c.1534	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	A	14.04	2.418187	0.42918	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67	5.18	2.62	0.31277	Myosin head, motor domain (3);	0.325538	0.21534	U	0.073009	D	0.93893	0.8046	M	0.75884	2.315	0.28214	N	0.926817	P;P;P	0.48998	0.622;0.469;0.918	B;B;P	0.46685	0.295;0.221;0.524	D	0.88311	0.2956	9	.	.	.	.	10.6499	0.45642	0.705:0.295:0.0:0.0	.	24;512;512	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	G	512;512;512;512;300;24	ENSP00000349145:R512G;ENSP00000350160:R512G;ENSP00000251041:R512G;ENSP00000401633:R24G	.	R	+	1	2	MYO16	108338767	1.000000	0.71417	0.022000	0.16811	0.274000	0.26718	2.791000	0.47829	0.341000	0.23771	0.533000	0.62120	AGA	MYO16	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000041515		0.433	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1		0	62	0	A	NM_015011		109540766	1			no_errors	ENST00000356711	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.986	G	G	109540766	A	G	109540766	3	3	140	1	0	0	0	0	1	0	0	0	10102	64	3	4	1584	4	MYO16	13	109540766	Missense_Mutation	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	83692493	109540766	5629112	109	35727											
OR4N5	390437	genome.wustl.edu	37	chr14	20611972	20611972	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcaagatgctcaacttctGgtctttgtgctagtcttaat	8	17	7	9	0	5	1	2	0	4	1	6	1	5	1	0	1	3	2	0	1	4	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr14:20611972G>T	ENST00000333629.1	+	1	78	c.78G>T	c.(76-78)ctG>ctT	p.L26L	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	26						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(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTCAACTTCTGGTCTTTGTGC	0.433																																																	0													191	186	188					14																	20611972		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.78G>T	14.37:g.20611972G>T			Q6IF11	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L26	ENST00000333629.1	37	c.78	CCDS32031.1	14																																																																																			OR4N5	-	prints_GPCR_Rhodpsn	ENSG00000184394		0.433	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N5	HGNC	protein_coding	OTTHUMT00000410347.1		0	106	0	G			20611972	1			no_errors	ENST00000333629	ensembl	human	known	74_37	silent	25.00	69	23	SNP	0.568	T	T	20611972	G	T	20611972	2	4	140	1	0	0	0	0	0	0	0	1	11118	1335	47	3		3	OR4N5	14	20611972	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09		20611972	86737568	110	35728											
DLGAP5	9787	genome.wustl.edu	37	chr14	55647457	55647457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgcttgagtagctgatCgagtcattctcaacgacgtg	8	13	11	9	3	2	2	2	2	1	0	4	4	2	2	0	0	4	4	0	0	2	4	rs200979225	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr14:55647457C>T	ENST00000247191.2	-	6	836	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.R207Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	207					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						AGTAGCTGATCGAGTCATTCT	0.433													C|||	2	0.000399361	0	0	5008	,	,		20812	0.001		0.001	False		,,,				2504	0																0													200	176	184					14																	55647457		2203	4300	6503	SO:0001583	missense	0			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.620G>A	14.37:g.55647457C>T	ENSP00000247191:p.Arg207Gln		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	pfam_GKAP	p.R207Q	ENST00000247191.2	37	c.620	CCDS9723.1	14	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.8	4.457542	0.84317	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645	T;T;T	0.16897	2.31;2.31;2.31	5.3	4.39	0.52855	.	2.175190	0.01603	N	0.022131	T	0.36908	0.0984	L	0.59436	1.845	0.26377	N	0.976793	D;D	0.76494	0.999;0.998	P;P	0.57679	0.825;0.716	T	0.08513	-1.0718	10	0.40728	T	0.16	.	10.6926	0.45879	0.0:0.909:0.0:0.091	.	207;207	A8MTM6;Q15398	.;DLGP5_HUMAN	Q	207	ENSP00000378815:R207Q;ENSP00000247191:R207Q;ENSP00000451747:R207Q	ENSP00000247191:R207Q	R	-	2	0	DLGAP5	54717210	0.944000	0.32072	0.979000	0.43373	0.973000	0.67179	1.966000	0.40481	1.340000	0.45581	0.655000	0.94253	CGA	DLGAP5	-	NULL	ENSG00000126787		0.433	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2		0	65	0	C	NM_014750		55647457	-1			no_errors	ENST00000247191	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.999	T	T	55647457	C	T	55647457	3	4	140	1	0	0	0	0	1	0	0	0	4577	884	31	1	2071	1	DLGAP5	14	55647457	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	35035485	55647457	51702083	111	35729											
MPP5	64398	genome.wustl.edu	37	chr14	67787832	67787832	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagattaccactttgtttcGcggcaagcattcgaggcaga	11	10	11	9	3	0	2	0	0	0	2	2	4	0	2	1	2	2	4	1	2	2	4	rs573524479	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr14:67787832G>A	ENST00000261681.4	+	13	2257	c.1596G>A	c.(1594-1596)tcG>tcA	p.S532S	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Silent_p.S498S	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	532	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ACTTTGTTTCGCGGCAAGCAT	0.443													G|||	7	0.00139776	0	0	5008	,	,		18179	0		0	False		,,,				2504	0.0072																0													139	130	133					14																	67787832		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1596G>A	14.37:g.67787832G>A			A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.S532	ENST00000261681.4	37	c.1596	CCDS9779.1	14																																																																																			MPP5	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000072415		0.443	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1		0	64	0	G	NM_022474		67787832	1			no_errors	ENST00000261681	ensembl	human	known	74_37	silent	22.78	61	18	SNP	0.964	A	A	67787832	G	A	67787832	2	1	140	1	0	0	0	0	0	0	0	1	9775	1074	38	1		1	MPP5	14	67787832	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	12140375	67787832	39561708	112	35730											
STON2	85439	genome.wustl.edu	37	chr14	81743273	81743273	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgtccggcagtcggtttatCctccacacaatggagttgaa	9	12	10	10	2	0	1	0	1	0	0	4	2	3	2	3	3	0	3	3	3	3	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr14:81743273C>G	ENST00000267540.2	-	4	2582	c.2382G>C	c.(2380-2382)agG>agC	p.R794S	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.R794S	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	794	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)		GTCGGTTTATCCTCCACACAA	0.473																																																	0													126	123	124					14																	81743273		2203	4300	6503	SO:0001583	missense	0			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.2382G>C	14.37:g.81743273C>G	ENSP00000267540:p.Arg794Ser		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.R794S	ENST00000267540.2	37	c.2382	CCDS9875.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.12|16.12	3.034269|3.034269	0.54896|0.54896	.|.	.|.	ENSG00000140022|ENSG00000140022	ENST00000553821|ENST00000555447;ENST00000546306;ENST00000267540	.|T;T	.|0.18960	.|2.18;2.18	5.92|5.92	5.03|5.03	0.67393|0.67393	.|Clathrin adaptor, mu subunit, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41650|0.41650	0.1168|0.1168	L|L	0.58302|0.58302	1.8|1.8	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.15122|0.15122	-1.0448|-1.0448	5|10	.|0.87932	.|D	.|0	-24.2578|-24.2578	12.7925|12.7925	0.57541|0.57541	0.0:0.8717:0.0:0.1283|0.0:0.8717:0.0:0.1283	.|.	.|794;794	.|Q8WXE9;G3V2T7	.|STON2_HUMAN;.	A|S	2|794;806;794	.|ENSP00000450857:R794S;ENSP00000267540:R794S	.|ENSP00000267540:R794S	G|R	-|-	2|3	0|2	STON2|STON2	80813026|80813026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	2.090000|2.090000	0.41682|0.41682	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	GGA|AGG	STON2	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C	ENSG00000140022		0.473	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1		0	56	0	C	NM_033104		81743273	-1			no_errors	ENST00000267540	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	G	G	81743273	C	G	81743273	3	3	140	1	0	0	0	0	1	0	0	0	15365	854	30	5	341	5	STON2	14	81743273	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	13955441	81743273	25606267	113	35731											
SERPINA4	5267	genome.wustl.edu	37	chr14	95033574	95033574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggaacaacttgttgcGgaagaggtaatcagtgtgct	11	10	15	5	1	1	1	1	0	0	1	1	4	1	3	0	4	4	3	0	4	4	3	rs540841872		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr14:95033574G>A	ENST00000557004.1	+	3	1338	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R306Q|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R306Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	306					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)		AACTTGTTGCGGAAGAGGTAA	0.438													A|||	1	0.000199681	0	0	5008	,	,		21423	0.001		0	False		,,,				2504	0																0													79	79	79					14																	95033574		2203	4300	6503	SO:0001583	missense	0			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.917G>A	14.37:g.95033574G>A	ENSP00000450838:p.Arg306Gln		Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R306Q	ENST00000557004.1	37	c.917	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	A	1.908	-0.451503	0.04572	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84370	-1.84;-1.84;-1.84	4.56	-2.08	0.07254	Serpin domain (3);	2.512550	0.01659	N	0.025009	T	0.69378	0.3104	N	0.11154	0.105	0.09310	N	1	B;B	0.25486	0.029;0.127	B;B	0.21708	0.019;0.036	T	0.64351	-0.6428	10	0.02654	T	1	.	10.5856	0.45280	0.5105:0.0:0.4895:0.0	.	306;306	B2R815;P29622	.;KAIN_HUMAN	Q	306	ENSP00000450838:R306Q;ENSP00000451172:R306Q;ENSP00000298841:R306Q	ENSP00000298841:R306Q	R	+	2	0	SERPINA4	94103327	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-1.311000	0.02723	-1.052000	0.03222	-1.327000	0.01280	CGG	SERPINA4	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000100665		0.438	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1		0	29	0	G	NM_006215		95033574	1			no_errors	ENST00000298841	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.000	A	A	95033574	G	A	95033574	3	1	140	1	0	0	0	0	1	0	0	0	14136	1116	39	1	923	1	SERPINA4	14	95033574	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	13290301	95033574	12315966	114	35732											
UNKL	64718	genome.wustl.edu	37	chr16	1453325	1453325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgttctgtgtcccccgtcGtccggtgcaggtagggacac	4	10	14	13	4	1	0	0	0	1	0	4	1	3	1	3	3	2	3	3	3	1	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:1453325G>A	ENST00000389221.4	-	3	307	c.308C>T	c.(307-309)aCg>aTg	p.T103M	UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000397462.1_Missense_Mutation_p.T190M|UNKL_ENST00000508903.2_Missense_Mutation_p.T103M|UNKL_ENST00000301712.5_Missense_Mutation_p.T103M	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	103					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)				GTCCCCCGTCGTCCGGTGCAG	0.607																																																	0													186	130	149					16																	1453325		2198	4300	6498	SO:0001583	missense	0			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.308C>T	16.37:g.1453325G>A	ENSP00000373873:p.Thr103Met		B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Nonsense_Mutation	SNP	NULL	p.R88*	ENST00000389221.4	37	c.262	CCDS53981.1	16	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262222	0.39995	.	.	ENSG00000059145	ENST00000389221;ENST00000508903;ENST00000397462;ENST00000301712	T	0.68479	-0.33	3.77	3.77	0.43336	.	0.131457	0.49916	D	0.000123	T	0.81489	0.4833	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84199	0.0449	10	0.59425	D	0.04	.	13.5415	0.61676	0.0:0.0:1.0:0.0	.	103	Q9H9P5-5	.	M	103;103;190;103	ENSP00000373873:T103M	ENSP00000301712:T103M	T	-	2	0	UNKL	1393326	1.000000	0.71417	0.467000	0.27180	0.236000	0.25371	9.182000	0.94881	2.114000	0.64651	0.456000	0.33151	ACG	UNKL	-	NULL	ENSG00000059145		0.607	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding			0	57	0	G	NM_001037125		1453325	-1			no_errors	ENST00000382757	ensembl	human	known	74_37	nonsense	34.78	30	16	SNP	0.996	A	A	1453325	G	A	1453325	3	1	140	1	0	0	0	0	1	0	0	0	17050	1145	40	1	1256	1	UNKL	16	1453325	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09		1453325	88901428	115	35733											
NTHL1	4913	genome.wustl.edu	37	chr16	2093676	2093676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggctgggatgtccccacCgtagtgctgctgcaggatgg	7	8	16	10	1	0	1	0	0	0	1	1	3	1	3	3	4	3	5	3	4	1	1	rs200007034		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:2093676C>T	ENST00000219066.1	-	4	619	c.601G>A	c.(601-603)Ggt>Agt	p.G201S	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1			nth endonuclease III-like 1 (E. coli)											lung(1)	1						ATGTCCCCACCGTAGTGCTGC	0.627								Base excision repair (BER), DNA glycosylases					C|||	1	0.000199681	0	0.0014	5008	,	,		19191	0		0	False		,,,				2504	0																0													79	61	67					16																	2093676		2197	4300	6497	SO:0001583	missense	0			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.601G>A	16.37:g.2093676C>T	ENSP00000219066:p.Gly201Ser			Missense_Mutation	SNP	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.G201S	ENST00000219066.1	37	c.601	CCDS10457.1	16	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.02	1.813425	0.32053	.	.	ENSG00000065057	ENST00000219066	T	0.46063	0.88	5.32	2.13	0.27403	Helix-hairpin-helix motif (1);HhH-GPD domain (2);DNA glycosylase (2);	0.467007	0.24766	N	0.035773	T	0.41627	0.1167	M	0.84948	2.725	0.09310	N	0.999996	B;B	0.29571	0.249;0.249	B;B	0.26770	0.073;0.073	T	0.32241	-0.9914	10	0.33141	T	0.24	-0.1849	7.1062	0.25364	0.0:0.7011:0.142:0.1568	.	201;201	E5KTI5;P78549	.;NTHL1_HUMAN	S	201	ENSP00000219066:G201S	ENSP00000219066:G201S	G	-	1	0	NTHL1	2033677	0.000000	0.05858	0.001000	0.08648	0.325000	0.28411	0.606000	0.24194	0.630000	0.30394	0.491000	0.48974	GGT	NTHL1	-	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain	ENSG00000065057		0.627	NTHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTHL1	HGNC	protein_coding	OTTHUMT00000250656.1		0	32	0	C	NM_002528		2093676	-1			no_errors	ENST00000219066	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.010	T	T	2093676	C	T	2093676	3	4	140	1	0	0	0	0	1	0	0	0	10737	652	23	1	349	1	NTHL1	16	2093676	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	640351	2093676	88261077	116	35734											
TBC1D24	57465	genome.wustl.edu	37	chr16	2548298	2548298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggagatcgtcagcgtgaGggagatgagagacatctggt	10	8	16	7	3	2	5	1	2	1	3	4	8	2	5	0	3	1	0	0	3	0	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:2548298G>T	ENST00000293970.5	+	4	1176	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Missense_Mutation_p.R348M|TBC1D24_ENST00000567020.1_Missense_Mutation_p.R342M	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	348					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						GTCAGCGTGAGGGAGATGAGA	0.632																																																	0													58	67	64					16																	2548298		2128	4249	6377	SO:0001583	missense	0			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.1043G>T	16.37:g.2548298G>T	ENSP00000293970:p.Arg348Met		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc	p.R348M	ENST00000293970.5	37	c.1043	CCDS55980.1	16	.	.	.	.	.	.	.	.	.	.	G	9.864	1.197111	0.22037	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T	0.23552	1.9	5.6	3.39	0.38822	TLDc (1);	0.096346	0.64402	D	0.000001	T	0.18002	0.0432	L	0.29908	0.895	0.34207	D	0.673795	B;B	0.20887	0.029;0.049	B;B	0.17722	0.008;0.019	T	0.11155	-1.0599	10	0.72032	D	0.01	-35.8053	8.3671	0.32393	0.8357:0.0:0.1643:0.0	.	348;342	Q9ULP9;Q9ULP9-2	TBC24_HUMAN;.	M	342;348	ENSP00000390106:R348M	ENSP00000293970:R342M	R	+	2	0	TBC1D24	2488299	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.286000	0.58995	0.432000	0.26286	-0.312000	0.09012	AGG	TBC1D24	-	smart_TLDc	ENSG00000162065		0.632	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D24	HGNC	protein_coding	OTTHUMT00000435637.1		0	42	0	G	NM_020705		2548298	1			no_errors	ENST00000293970	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	2548298	G	T	2548298	3	4	140	1	0	0	0	0	1	0	0	0	15661	1000	35	3	1031	3	TBC1D24	16	2548298	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	454622	2548298	87806455	117	35735											
ADCY9	115	genome.wustl.edu	37	chr16	4164627	4164627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcagggccccggctcCgggcgaggggaagcaggctt	6	4	18	13	3	0	0	0	0	0	0	1	2	1	1	4	6	2	4	4	6	1	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:4164627C>T	ENST00000294016.3	-	2	1355	c.817G>A	c.(817-819)Gga>Aga	p.G273R		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	273					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						GCCCCGGCTCCGGGCGAGGGG	0.622																																																	0													29	29	29					16																	4164627		2197	4299	6496	SO:0001583	missense	0			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.817G>A	16.37:g.4164627C>T	ENSP00000294016:p.Gly273Arg		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G273R	ENST00000294016.3	37	c.817	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	0.127	-1.118057	0.01785	.	.	ENSG00000162104	ENST00000294016	D	0.83075	-1.68	5.57	3.57	0.40892	.	0.648432	0.16226	N	0.223804	T	0.73853	0.3640	L	0.38531	1.155	0.09310	N	1	B	0.32604	0.377	B	0.27170	0.077	T	0.59397	-0.7462	10	0.32370	T	0.25	.	12.8745	0.57982	0.1293:0.7465:0.1242:0.0	.	273	O60503	ADCY9_HUMAN	R	273	ENSP00000294016:G273R	ENSP00000294016:G273R	G	-	1	0	ADCY9	4104628	0.049000	0.20398	0.000000	0.03702	0.039000	0.13416	3.363000	0.52321	0.693000	0.31634	0.555000	0.69702	GGA	ADCY9	-	NULL	ENSG00000162104		0.622	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1		0	25	0	C			4164627	-1			no_errors	ENST00000294016	ensembl	human	known	74_37	missense	28.57	25	10	SNP	0.003	T	T	4164627	C	T	4164627	3	4	140	1	0	0	0	0	1	0	0	0	301	661	23	1	3284	1	ADCY9	16	4164627	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	1616329	4164627	86190126	118	35736											
ERCC4	2072	genome.wustl.edu	37	chr16	14014129	14014129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacgggctagtagtgtgcgCccgcgggctcggcgcggacc	4	6	18	13	7	0	1	0	1	0	0	1	2	0	2	2	4	1	3	2	4	2	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:14014129C>A	ENST00000311895.7	+	1	116	c.107C>A	c.(106-108)gCc>gAc	p.A36D	ERCC4_ENST00000575156.1_Missense_Mutation_p.A36D	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	36	Helicase-like.				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						GTAGTGTGCGCCCGCGGGCTC	0.682			"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													28	29	28					16																	14014129		2196	4299	6495	SO:0001583	missense	0	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.107C>A	16.37:g.14014129C>A	ENSP00000310520:p.Ala36Asp		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.A36D	ENST00000311895.7	37	c.107	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.274081	0.95459	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.67171	-0.25	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	M	0.89968	3.075	0.80722	D	1	D;D	0.63046	0.98;0.992	P;D	0.63703	0.837;0.917	D	0.87197	0.2238	10	0.87932	D	0	-21.4739	17.6735	0.88224	0.0:1.0:0.0:0.0	.	36;36	A5PKV6;Q92889	.;XPF_HUMAN	D	36;25;25	ENSP00000310520:A36D	ENSP00000310520:A36D	A	+	2	0	ERCC4	13921630	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	6.584000	0.74057	2.826000	0.97356	0.655000	0.94253	GCC	ERCC4	-	NULL	ENSG00000175595		0.682	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2		0	66	0	C	NM_005236		14014129	1			no_errors	ENST00000311895	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A	A	14014129	C	A	14014129	3	1	140	1	0	0	0	0	1	0	0	0	5231	739	26	3	109	3	ERCC4	16	14014129	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	9849502	14014129	76340624	119	35737											
ABCC12	94160	genome.wustl.edu	37	chr16	48125058	48125058	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattccctgagcagctccacGgaggtgaatttggcttgcgt	7	12	12	10	2	0	2	0	2	0	0	2	3	2	3	2	3	3	3	2	3	2	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:48125058G>A	ENST00000311303.3	-	23	3603	c.3258C>T	c.(3256-3258)tcC>tcT	p.S1086S	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1086						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)				GCAGCTCCACGGAGGTGAATT	0.502																																																	0													165	158	160					16																	48125058		2201	4300	6501	SO:0001819	synonymous_variant	0			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.3258C>T	16.37:g.48125058G>A			Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.S1086	ENST00000311303.3	37	c.3258	CCDS10730.1	16																																																																																			ABCC12	-	superfamily_ABC1_TM_dom	ENSG00000140798		0.502	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1		0	24	0	G	NM_033226		48125058	-1			no_errors	ENST00000311303	ensembl	human	known	74_37	silent	30.00	21	9	SNP	0.008	A	A	48125058	G	A	48125058	2	1	140	1	0	0	0	0	0	0	0	1	52	1103	39	1		1	ABCC12	16	48125058	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	34110929	48125058	42229695	120	35738											
CSNK2A2	1459	genome.wustl.edu	37	chr16	58200582	58200582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccagaaccttggcaatgcGaacaagctgaaacacaaaac	18	4	7	12	1	0	2	0	1	0	1	0	3	0	2	2	1	6	2	2	1	7	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:58200582G>A	ENST00000262506.3	-	9	916	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	245	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						TTGGCAATGCGAACAAGCTGA	0.458																																					Melanoma(54;119 1219 18349 35700 39738)												0													178	150	159					16																	58200582		2198	4300	6498	SO:0001583	missense	0			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.733C>T	16.37:g.58200582G>A	ENSP00000262506:p.Arg245Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R245C	ENST00000262506.3	37	c.733	CCDS10794.1	16	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753642	0.49362	.	.	ENSG00000070770	ENST00000262506	T	0.66460	-0.21	6.16	6.16	0.99307	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	0.73567	0.3603	L	0.53561	1.675	0.80722	D	1	D	0.54047	0.964	P	0.51055	0.657	T	0.73877	-0.3844	10	0.62326	D	0.03	-19.2124	19.848	0.96722	0.0:0.0:1.0:0.0	.	245	P19784	CSK22_HUMAN	C	245	ENSP00000262506:R245C	ENSP00000262506:R245C	R	-	1	0	CSNK2A2	56758083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.629000	0.74267	2.937000	0.99478	0.650000	0.86243	CGC	CSNK2A2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000070770		0.458	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK2A2	HGNC	protein_coding	OTTHUMT00000257386.2		0	26	0	G	NM_001896		58200582	-1			no_errors	ENST00000262506	ensembl	human	known	74_37	missense	43.18	25	19	SNP	1.000	A	A	58200582	G	A	58200582	3	1	140	1	0	0	0	0	1	0	0	0	3967	1058	37	1	331	1	CSNK2A2	16	58200582	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	10075524	58200582	32154171	121	35739											
SLC9A5	6553	genome.wustl.edu	37	chr16	67286504	67286504	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctgcctgctgattttgCtgggcctggtgctaggggga	5	11	17	8	0	0	2	0	1	0	1	0	3	0	3	2	4	5	4	2	4	1	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:67286504C>T	ENST00000299798.11	+	2	312	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	SLC9A5_ENST00000561472.2_Intron	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	83					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)		GCTGATTTTGCTGGGCCTGGT	0.512																																																	0													138	137	138					16																	67286504		2006	4168	6174	SO:0001819	synonymous_variant	0				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.247C>T	16.37:g.67286504C>T			A5PKY7|Q9Y626	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L83	ENST00000299798.11	37	c.247	CCDS42178.1	16																																																																																			SLC9A5	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000135740		0.512	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1		0	93	0	C			67286504	1			no_errors	ENST00000299798	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T	T	67286504	C	T	67286504	2	4	140	1	0	0	0	0	0	0	0	1	14762	796	28	3		3	SLC9A5	16	67286504	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	9085922	67286504	23068249	122	35740											
KIAA0753	9851	genome.wustl.edu	37	chr17	6538418	6538418	+	Frame_Shift_Del	DEL	T	T	-																															gttgaagctggctggcctggTcccataatgtcaggtagtac																										TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:6538418delT	ENST00000361413.3	-	2	364	c.6delA	c.(4-6)ggafs	p.G2fs	KIAA0753_ENST00000572370.1_Intron|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	2						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCTGGCCTGGTCCCATAATGT	0.473																																																	0													89	85	87					17																	6538418		1998	4167	6165	SO:0001589	frameshift_variant	0				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.6delA	17.37:g.6538418delT	ENSP00000355250:p.Gly2fs		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Frame_Shift_Del	DEL	NULL	p.P3fs	ENST00000361413.3	37	c.6	CCDS42247.1	17																																																																																			KIAA0753	-	NULL	ENSG00000198920		0.473	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3		0	67	0	T	NM_014804		6538418	-1			no_errors	ENST00000361413	ensembl	human	known	74_37	frame_shift_del	11.94	59	8	DEL	0.965	0	-	6538418	T	-	6538418	7	5	140	1	0	1	0	1	0	0	0	0	8218	1654	58	0	2969	0	KIAA0753	17	6538418	Frame_Shift_Del	DEL	T	TCGA-R6-A6DQ-01B-11D-A31U-09		6538418	74656792	123	35741											
TP53	7157	genome.wustl.edu	37	chr17	7576873	7576873	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagggtgaaatattctcCatccagtggtttcttctttg	8	16	9	8	0	3	2	0	2	3	0	5	2	4	2	2	2	0	1	2	2	3	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:7576873C>A	ENST00000269305.4	-	9	1162	c.973G>T	c.(973-975)Gga>Tga	p.G325*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.G325*|TP53_ENST00000359597.4_Nonsense_Mutation_p.G325*|TP53_ENST00000445888.2_Nonsense_Mutation_p.G325*|TP53_ENST00000420246.2_Nonsense_Mutation_p.G325*|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	325	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation; dbSNP:rs28934271). {ECO:0000269|PubMed:1565144}.		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.G325*(1)|p.G325fs*23(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)	AAATATTCTCCATCCAGTGGT	0.438		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"	11	Whole gene deletion(8)|Substitution - Nonsense(1)|Unknown(1)|Complex - frameshift(1)	bone(4)|urinary_tract(2)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|stomach(1)											126	117	120					17																	7576873		2203	4300	6503	SO:0001587	stop_gained	0	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.973G>T	17.37:g.7576873C>A	ENSP00000269305:p.Gly325*		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G325*	ENST00000269305.4	37	c.973	CCDS11118.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.174165|6.174165	0.97348|0.97348	.|.	.|.	ENSG00000141510|ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690|ENST00000419024	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.647870|.	0.16297|.	N|.	0.220624|.	.|T	.|0.70159	.|0.3192	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78211	.|-0.2292	.|4	0.59425|0.87932	D|D	0.04|0	-0.9501|-0.9501	14.0188|14.0188	0.64541|0.64541	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	325;325;325;325;325;314;193|11	.|.	ENSP00000269305:G325X|ENSP00000402130:M11I	G|M	-|-	1|3	0|0	TP53|TP53	7517598|7517598	0.959000|0.959000	0.32827|0.32827	0.998000|0.998000	0.56505|0.56505	0.955000|0.955000	0.61496|0.61496	4.051000|4.051000	0.57412|0.57412	2.688000|2.688000	0.91661|0.91661	0.561000|0.561000	0.74099|0.74099	GGA|ATG	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn	ENSG00000141510		0.438	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	63	0	C	NM_000546		7576873	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	30.00	35	15	SNP	1.000	A	A	7576873	C	A	7576873	4	1	140	1	0	0	0	0	0	1	0	0	16429	603	21	3	309	3	TP53	17	7576873	Nonsense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	1038455	7576873	73618337	124	35742											
RPL26	6154	genome.wustl.edu	37	chr17	8280945	8280945	+	Silent	SNP	A	A	C	1	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	ttttcctttcctacttggcgAgatttggctttccgttcgag	4	18	9	10	3	0	1	0	0	0	1	4	3	3	1	3	2	1	2	3	2	1	8			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:8280945A>C	ENST00000584164.1	-	4	766	c.375T>G	c.(373-375)tcT>tcG	p.S125S	RP11-849F2.7_ENST00000582471.1_Intron|RPL26_ENST00000582556.1_Silent_p.S125S|RPL26_ENST00000583011.1_Silent_p.S125S|KRBA2_ENST00000396267.1_5'Flank|RPL26_ENST00000293842.5_Silent_p.S125S|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000585181.1_RNA|RPL26_ENST00000585176.1_5'UTR|RP11-849F2.5_ENST00000579904.1_RNA			P61254	RL26_HUMAN	ribosomal protein L26	125					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						CTACTTGGCGAGATTTGGCTT	0.373																																																	0													90	96	94					17																	8280945		2203	4299	6502	SO:0001819	synonymous_variant	0				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.375T>G	17.37:g.8280945A>C			B2R4F0|D3DTR8|Q02877|Q6IPY2	Silent	SNP	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc	p.S125	ENST00000584164.1	37	c.375	CCDS11142.1	17																																																																																			RPL26	-	superfamily_Translation_prot_SH3-like	ENSG00000161970		0.373	RPL26-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL26	HGNC	protein_coding	OTTHUMT00000442322.1		0	67	0	A	NM_000987		8280945	-1			no_errors	ENST00000293842	ensembl	human	known	74_37	silent	6.15	61	4	SNP	1.000	C	C	8280945	A	C	8280945	2	2	140	1	0	0	0	0	0	0	0	1	13618	291	11	4		4	RPL26	17	8280945	Silent	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	704072	8280945	72914265	125	35743											
ERBB2	2064	genome.wustl.edu	37	chr17	37865579	37865579	+	Missense_Mutation	SNP	A	A	G	1	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	ctcaccccacagagatcttgAaaggaggggtcttgatccag	11	8	11	11	0	3	3	1	2	2	1	4	5	4	4	3	3	0	0	3	3	1	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:37865579A>G	ENST00000269571.5	+	4	607	c.448A>G	c.(448-450)Aaa>Gaa	p.K150E	ERBB2_ENST00000541774.1_Missense_Mutation_p.K135E|ERBB2_ENST00000540042.1_Missense_Mutation_p.K120E|ERBB2_ENST00000578199.1_Missense_Mutation_p.K120E|ERBB2_ENST00000584601.1_Missense_Mutation_p.K120E|ERBB2_ENST00000406381.2_Missense_Mutation_p.K120E|ERBB2_ENST00000540147.1_Missense_Mutation_p.K120E|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584450.1_Missense_Mutation_p.K150E			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	150					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)	AGAGATCTTGAAAGGAGGGGT	0.547		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													136	128	131					17																	37865579		2203	4300	6503	SO:0001583	missense	0			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.448A>G	17.37:g.37865579A>G	ENSP00000269571:p.Lys150Glu		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K150E	ENST00000269571.5	37	c.448	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	A	14.03	2.413988	0.42817	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.51	5.51	0.81932	EGF receptor, L domain (1);	.	.	.	.	D	0.82356	0.5019	L	0.41356	1.27	0.35175	D	0.771973	D;D;P;P	0.67145	0.996;0.991;0.861;0.573	P;P;P;B	0.60286	0.872;0.784;0.652;0.126	T	0.82273	-0.0539	9	0.16420	T	0.52	.	15.4527	0.75285	1.0:0.0:0.0:0.0	.	120;135;150;150	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	E	120;135;150;120;120	ENSP00000385185:K120E;ENSP00000446466:K135E;ENSP00000269571:K150E;ENSP00000443562:K120E;ENSP00000446382:K120E	ENSP00000269571:K150E	K	+	1	0	ERBB2	35119105	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.747000	0.38298	2.317000	0.78254	0.459000	0.35465	AAA	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000141736		0.547	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2		0	24	0	A			37865579	1			no_errors	ENST00000269571	ensembl	human	known	74_37	missense	36.36	14	8	SNP	1.000	G	G	37865579	A	G	37865579	3	3	140	1	0	0	0	0	1	0	0	0	5222	247	9	4	462	4	ERBB2	17	37865579	Missense_Mutation	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	29584634	37865579	43329631	126	35744											
KRT23	25984	genome.wustl.edu	37	chr17	39092743	39092743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagatgcgggctccccccGcaccgccatggacggtggga	6	4	17	14	4	0	1	0	0	0	1	1	4	1	3	5	5	1	2	5	5	0	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:39092743G>A	ENST00000209718.3	-	2	537	c.113C>T	c.(112-114)gCg>gTg	p.A38V	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000582283.1_5'Flank	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	38	Head.					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)				GGCTCCCCCCGCACCGCCATG	0.697																																																	0													26	32	30					17																	39092743		2202	4299	6501	SO:0001583	missense	0			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.113C>T	17.37:g.39092743G>A	ENSP00000209718:p.Ala38Val		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.A38V	ENST00000209718.3	37	c.113	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973453	0.53614	.	.	ENSG00000108244	ENST00000209718	D	0.83506	-1.73	5.73	5.73	0.89815	.	0.112704	0.39687	N	0.001293	D	0.83617	0.5293	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	P	0.60117	0.869	D	0.84583	0.0662	10	0.51188	T	0.08	.	16.1711	0.81817	0.0:0.1332:0.8668:0.0	.	38	Q9C075	K1C23_HUMAN	V	38	ENSP00000209718:A38V	ENSP00000209718:A38V	A	-	2	0	KRT23	36346269	0.841000	0.29509	0.430000	0.26722	0.045000	0.14185	3.792000	0.55476	2.707000	0.92482	0.557000	0.71058	GCG	KRT23	-	NULL	ENSG00000108244		0.697	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1		0	19	0	G			39092743	-1			no_errors	ENST00000209718	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.983	A	A	39092743	G	A	39092743	3	1	140	1	0	0	0	0	1	0	0	0	8487	1087	38	1	1187	1	KRT23	17	39092743	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	1227164	39092743	42102467	127	35745											
ZNF652	22834	genome.wustl.edu	37	chr17	47376270	47376270	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgccacagatttcacaGataaagggtttctctcctga	10	14	7	10	0	2	3	1	1	1	2	4	3	3	3	2	1	1	1	2	1	2	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:47376270G>T	ENST00000362063.2	-	6	1644	c.1326C>A	c.(1324-1326)atC>atA	p.I442I	ZNF652_ENST00000430262.2_Silent_p.I442I	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGATTTCACAGATAAAGGGTT	0.433																																																	0													46	45	46					17																	47376270		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"Zinc fingers, C2H2-type"	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1326C>A	17.37:g.47376270G>T			A4QPD9|Q5H9Q0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I442	ENST00000362063.2	37	c.1326	CCDS32677.1	17																																																																																			ZNF652	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198740		0.433	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF652	HGNC	protein_coding	OTTHUMT00000364524.1		0	32	0	G	NM_014897		47376270	-1			no_errors	ENST00000362063	ensembl	human	known	74_37	silent	11.11	32	4	SNP	1.000	T	T	47376270	G	T	47376270	2	4	140	1	0	0	0	0	0	0	0	1	18113	932	33	3		3	ZNF652	17	47376270	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	8283527	47376270	33818940	128	35746											
NPC1	4864	genome.wustl.edu	37	chr18	21124978	21124978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctagggaaatatatagaaaCatgatggcatagctaattac	17	10	9	5	0	0	2	0	1	0	1	0	3	0	3	0	2	3	3	0	2	9	7			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr18:21124978C>T	ENST00000269228.5	-	12	2447	c.1893G>A	c.(1891-1893)atG>atA	p.M631I	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.M313I	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	631	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.		M -> R (in NPC1). {ECO:0000269|PubMed:11333381, 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)					TATATAGAAACATGATGGCAT	0.453																																																	0													108	99	102					18																	21124978		2203	4300	6503	SO:0001583	missense	0			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.1893G>A	18.37:g.21124978C>T	ENSP00000269228:p.Met631Ile		B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type	p.M631I	ENST00000269228.5	37	c.1893	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364203	0.82353	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.89939	-2.59;-2.59	6.06	6.06	0.98353	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.89836	0.6830	L	0.58510	1.815	0.80722	D	1	P;P	0.46220	0.874;0.584	P;B	0.44897	0.463;0.175	D	0.89304	0.3628	10	0.51188	T	0.08	-41.7159	20.6282	0.99521	0.0:1.0:0.0:0.0	.	642;631	Q59GR1;O15118	.;NPC1_HUMAN	I	631;313;476	ENSP00000269228:M631I;ENSP00000408606:M313I	ENSP00000269228:M631I	M	-	3	0	NPC1	19378976	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	7.614000	0.82996	2.871000	0.98454	0.655000	0.94253	ATG	NPC1	-	pfam_Patched,pfscan_SSD,tigrfam_NP_C_type	ENSG00000141458		0.453	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2		0	26	0	C	NM_000271		21124978	-1			no_errors	ENST00000269228	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	T	T	21124978	C	T	21124978	3	4	140	1	0	0	0	0	1	0	0	0	10609	478	17	3	1999	3	NPC1	18	21124978	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09		21124978	56952270	129	35747											
B4GALT6	9331	genome.wustl.edu	37	chr18	29218605	29218605	+	Splice_Site	SNP	A	A	G	1	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	ccactatgaaaagtattctcAcctgttcaatgacataaaac	16	11	4	10	0	2	2	2	2	1	0	3	2	2	2	2	0	1	2	2	0	7	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr18:29218605A>G	ENST00000306851.5	-	5	885		c.e5+1		B4GALT6_ENST00000237019.7_Splice_Site|B4GALT6_ENST00000383131.3_Intron	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6						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)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AAGTATTCTCACCTGTTCAAT	0.343																																																	0													89	90	90					18																	29218605		2203	4300	6503	SO:0001630	splice_region_variant	0			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"Beta 4-glycosyltransferases"	929	protein-coding gene	gene with protein product	"UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.588+1T>C	18.37:g.29218605A>G			O60514|Q6NT09	Splice_Site	SNP	-	e5+2	ENST00000306851.5	37	c.588+2	CCDS11900.1	18	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357986	0.82243	.	.	ENSG00000118276	ENST00000306851;ENST00000237019	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9443	0.79782	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	B4GALT6	27472603	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	8.962000	0.93254	2.173000	0.68751	0.460000	0.39030	.	B4GALT6	-	-	ENSG00000118276		0.343	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT6	HGNC	protein_coding	OTTHUMT00000254942.2		0	58	0	A	NM_004775	Intron	29218605	-1			no_errors	ENST00000306851	ensembl	human	known	74_37	splice_site	11.43	31	4	SNP	1.000	G	G	29218605	A	G	29218605	5	3	140	1	0	0	0	0	0	0	1	0	1276	173	6	4	578	4	B4GALT6	18	29218605	Splice_Site	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	8093627	29218605	48858643	130	35748											
CELF4	56853	genome.wustl.edu	37	chr18	34833808	34833808	+	Missense_Mutation	SNP	A	A	C	1	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	tggcgtctttgggccgcttcAgctgcaccttgagcctcttc	3	13	11	14	2	3	1	1	1	2	0	4	1	3	1	3	2	3	3	3	2	0	4			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr18:34833808A>C	ENST00000591282.1	-	12	1426	c.1427T>G	c.(1426-1428)cTg>cGg	p.L476R	CELF4_ENST00000420428.2_Missense_Mutation_p.L476R|CELF4_ENST00000590011.1_5'UTR|CELF4_ENST00000591287.1_Missense_Mutation_p.L474R|CELF4_ENST00000334919.5_Missense_Mutation_p.L438R|CELF4_ENST00000603232.1_Missense_Mutation_p.L475R|CELF4_ENST00000601019.1_Missense_Mutation_p.L474R|CELF4_ENST00000412753.1_Missense_Mutation_p.L475R|CELF4_ENST00000361795.5_Missense_Mutation_p.L474R			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	476	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGGCCGCTTCAGCTGCACCTT	0.692																																																	0													64	62	63					18																	34833808		2203	4300	6503	SO:0001583	missense	0			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1427T>G	18.37:g.34833808A>C	ENSP00000464794:p.Leu476Arg		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L476R	ENST00000591282.1	37	c.1427	CCDS32818.1	18	.	.	.	.	.	.	.	.	.	.	A	29.1	4.978204	0.92982	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T	0.06849	3.25;3.25	4.11	4.11	0.48088	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.64402	D	0.000004	T	0.15696	0.0378	N	0.20766	0.605	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.999;1.0	D;D;D;D	0.91635	0.999;0.991;0.987;0.993	T	0.05784	-1.0864	10	0.87932	D	0	-5.5895	13.3413	0.60547	1.0:0.0:0.0:0.0	.	474;438;474;476	Q9BZC1-3;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;CELF4_HUMAN	R	476;475;474;438	ENSP00000406823:L475R;ENSP00000335631:L438R	ENSP00000335631:L438R	L	-	2	0	CELF4	33087806	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.863000	0.92288	1.736000	0.51660	0.387000	0.25754	CTG	CELF4	-	pfscan_RRM_dom	ENSG00000101489		0.692	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF4	HGNC	protein_coding	OTTHUMT00000440892.1		0	48	0	A	NM_020180		34833808	-1			no_errors	ENST00000420428	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C	C	34833808	A	C	34833808	3	2	140	1	0	0	0	0	1	0	0	0	3225	188	7	4	37	4	CELF4	18	34833808	Missense_Mutation	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	5615203	34833808	43243440	131	35749											
ELANE	1991	genome.wustl.edu	37	chr19	855780	855780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctcgtgaggggccggcagGccggcgtctgtttcgtacgt	3	10	16	12	6	2	1	0	1	2	0	4	1	2	1	2	5	1	3	2	5	1	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:855780G>A	ENST00000590230.1	+	5	724	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	ELANE_ENST00000263621.1_Missense_Mutation_p.A195T			P08246	ELNE_HUMAN	elastase, neutrophil expressed	195	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		Missing (in SCN1 and CH). {ECO:0000269|PubMed:11675333}.		acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGCCGGCAGGCCGGCGTCTG	0.677																																																	0													35	36	36					19																	855780		2203	4297	6500	SO:0001583	missense	0				CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"neutrophil elastase", "leukocyte elastase", "medullasin"	130130	"elastase 2, neutrophil"	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.583G>A	19.37:g.855780G>A	ENSP00000466090:p.Ala195Thr		P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A195T	ENST00000590230.1	37	c.583	CCDS12045.1	19	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433761	0.43224	.	.	ENSG00000197561	ENST00000263621	D	0.88896	-2.44	4.46	4.46	0.54185	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.526159	0.14250	U	0.331523	D	0.88134	0.6355	N	0.11427	0.14	0.25817	N	0.984327	D	0.89917	1.0	D	0.87578	0.998	T	0.80661	-0.1283	10	0.42905	T	0.14	.	12.9545	0.58418	0.0:0.0:1.0:0.0	.	195	P08246	ELNE_HUMAN	T	195	ENSP00000263621:A195T	ENSP00000263621:A195T	A	+	1	0	ELANE	806780	0.814000	0.29104	0.247000	0.24249	0.040000	0.13550	3.424000	0.52764	2.198000	0.70561	0.462000	0.41574	GCC	ELANE	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000197561		0.677	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELANE	HGNC	protein_coding	OTTHUMT00000457890.2		0	50	0	G	NM_001972		855780	1			no_errors	ENST00000263621	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.380	A	A	855780	G	A	855780	3	1	140	1	0	0	0	0	1	0	0	0	5064	1203	42	3	597	3	ELANE	19	855780	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09		855780	58273203	132	35750											
FBXL12	54850	genome.wustl.edu	37	chr19	9921708	9921708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcaaggactctgagcttgGgcatagtgaggcaggaggag	10	7	17	7	0	2	2	1	2	1	0	2	5	2	5	0	5	1	4	0	5	2	2	rs138792854	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:9921708G>T	ENST00000247977.4	-	3	1086	c.845C>A	c.(844-846)cCc>cAc	p.P282H	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.P229H|FBXL12_ENST00000585379.1_Missense_Mutation_p.P229H|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	282					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TCTGAGCTTGGGCATAGTGAG	0.627																																																	0													33	34	34					19																	9921708		2203	4299	6502	SO:0001583	missense	0			AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"F-boxes / Leucine-rich repeats"	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.845C>A	19.37:g.9921708G>T	ENSP00000247977:p.Pro282His		B3KSJ8|Q9H5K4	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.P282H	ENST00000247977.4	37	c.845	CCDS12218.1	19	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673569	0.67928	.	.	ENSG00000127452	ENST00000247977	T	0.21031	2.03	4.51	4.51	0.55191	.	0.081262	0.49916	D	0.000129	T	0.28896	0.0717	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02138	-1.1207	9	.	.	.	.	12.9418	0.58350	0.0:0.0:1.0:0.0	.	282	Q9NXK8	FXL12_HUMAN	H	282	ENSP00000247977:P282H	.	P	-	2	0	FBXL12	9782708	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	4.998000	0.63927	2.509000	0.84616	0.563000	0.77884	CCC	FBXL12	-	NULL	ENSG00000127452		0.627	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL12	HGNC	protein_coding	OTTHUMT00000450265.1		0	71	0	G	NM_017703		9921708	-1			no_errors	ENST00000247977	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	9921708	G	T	9921708	3	4	140	1	0	0	0	0	1	0	0	0	5730	1232	43	3	139	3	FBXL12	19	9921708	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	9065928	9921708	49207275	133	35751											
FBXL12	54850	genome.wustl.edu	37	chr19	9922195	9922195	+	Missense_Mutation	SNP	T	T	C	0	1	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	caaggtgctgggcaggctggTgatgggcaccatgctcaggt	7	8	17	9	0	1	1	1	1	0	0	1	1	1	1	1	6	2	5	1	6	1	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:9922195T>C	ENST00000247977.4	-	3	599	c.358A>G	c.(358-360)Acc>Gcc	p.T120A	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.T67A|FBXL12_ENST00000592067.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.T67A|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	120					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GGCAGGCTGGTGATGGGCACC	0.662																																																	0													80	87	85					19																	9922195		2203	4300	6503	SO:0001583	missense	0			AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"F-boxes / Leucine-rich repeats"	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.358A>G	19.37:g.9922195T>C	ENSP00000247977:p.Thr120Ala		B3KSJ8|Q9H5K4	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.T120A	ENST00000247977.4	37	c.358	CCDS12218.1	19	.	.	.	.	.	.	.	.	.	.	T	9.846	1.192426	0.21954	.	.	ENSG00000127452	ENST00000247977	T	0.16073	2.37	4.76	1.37	0.22104	.	0.571176	0.19201	N	0.120192	T	0.04679	0.0127	N	0.03608	-0.345	0.80722	D	1	B	0.29627	0.252	B	0.18561	0.022	T	0.38628	-0.9652	9	.	.	.	.	2.6083	0.04884	0.2131:0.2178:0.0:0.5691	.	120	Q9NXK8	FXL12_HUMAN	A	120	ENSP00000247977:T120A	.	T	-	1	0	FBXL12	9783195	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	0.456000	0.21859	0.357000	0.24183	0.533000	0.62120	ACC	FBXL12	-	NULL	ENSG00000127452		0.662	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL12	HGNC	protein_coding	OTTHUMT00000450265.1		0	50	0	T	NM_017703		9922195	-1			no_errors	ENST00000247977	ensembl	human	known	74_37	missense	33.33	38	19	SNP	0.990	C	C	9922195	T	C	9922195	3	2	140	1	0	0	0	0	1	0	0	0	5730	1696	59	4	626	4	FBXL12	19	9922195	Missense_Mutation	SNP	T	TCGA-R6-A6DQ-01B-11D-A31U-09	487	9922195	49206788	134	35752											
SIRT2	22933	genome.wustl.edu	37	chr19	39370089	39370089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttccatccaaggagCtcagcaagggccaggcagcc	10	5	10	16	0	2	0	2	0	0	0	4	1	4	1	5	3	3	3	5	3	2	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:39370089C>T	ENST00000249396.7	-	15	1300	c.999G>A	c.(997-999)gaG>gaA	p.E333E	RINL_ENST00000340740.3_5'Flank|RINL_ENST00000591812.1_5'Flank|SIRT2_ENST00000392081.2_Silent_p.E296E|RINL_ENST00000598904.1_5'Flank|SIRT2_ENST00000358931.5_3'UTR	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	333	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			ATCCAAGGAGCTCAGCAAGGG	0.667																																																	0													29	27	27					19																	39370089		2200	4299	6499	SO:0001819	synonymous_variant	0			AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2", "sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.999G>A	19.37:g.39370089C>T			A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Silent	SNP	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.E333	ENST00000249396.7	37	c.999	CCDS12523.1	19																																																																																			SIRT2	-	pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	ENSG00000068903		0.667	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRT2	HGNC	protein_coding	OTTHUMT00000318278.1		0	24	0	C			39370089	-1			no_errors	ENST00000249396	ensembl	human	known	74_37	silent	44.44	10	8	SNP	1.000	T	T	39370089	C	T	39370089	2	4	140	1	0	0	0	0	0	0	0	1	14383	796	28	3		3	SIRT2	19	39370089	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	29447894	39370089	19758894	135	35753											
EXOSC5	56915	genome.wustl.edu	37	chr19	41898857	41898857	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttcacctcggccggcccGtacacacccgccaggacaga	9	4	9	19	4	1	1	1	0	0	1	2	2	1	2	6	3	1	1	6	3	1	2	rs148206160		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:41898857G>A	ENST00000221233.4	-	2	327	c.177C>T	c.(175-177)taC>taT	p.Y59Y	BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	59					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						CGGCCGGCCCGTACACACCCG	0.607																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	74	57	63		177	-3.1	1	19	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	EXOSC5	NM_020158.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		59/236	41898857	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.177C>T	19.37:g.41898857G>A			Q32Q81|Q8NG16|Q96I89	Silent	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.Y59	ENST00000221233.4	37	c.177	CCDS12580.1	19																																																																																			EXOSC5	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000077348		0.607	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC5	HGNC	protein_coding	OTTHUMT00000463492.1		0	33	0	G	NM_020158		41898857	-1			no_errors	ENST00000221233	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.960	A	A	41898857	G	A	41898857	2	1	140	1	0	0	0	0	0	0	0	1	5334	1140	40	1		1	EXOSC5	19	41898857	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	2528768	41898857	17230126	136	35754											
GRIK5	2901	genome.wustl.edu	37	chr19	42509909	42509909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgccgtagcccttggtgtcGaggagtcccccgatctgggt	5	10	14	12	3	1	0	0	0	1	0	3	3	2	1	4	3	2	1	4	3	1	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:42509909G>A	ENST00000262895.3	-	16	2228	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L	GRIK5_ENST00000301218.4_Silent_p.L743L|GRIK5_ENST00000593562.1_Silent_p.L743L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	743					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CCTTGGTGTCGAGGAGTCCCC	0.637																																																	0													102	70	81					19																	42509909		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2229C>T	19.37:g.42509909G>A			Q8WWG8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L743	ENST00000262895.3	37	c.2229	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233468	0.22626	.	.	ENSG00000105737	ENST00000454993	.	.	.	5.23	1.75	0.24633	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7648	0.13127	0.2588:0.2474:0.4938:0.0	.	.	.	.	X	120	.	.	R	-	1	2	GRIK5	47201749	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.845000	0.27668	0.613000	0.30089	-0.222000	0.12452	CGA	GRIK5	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000105737		0.637	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1		0	53	0	G			42509909	-1			no_errors	ENST00000301218	ensembl	human	known	74_37	silent	53.85	18	21	SNP	1.000	A	A	42509909	G	A	42509909	2	1	140	1	0	0	0	0	0	0	0	1	6804	1045	37	1		1	GRIK5	19	42509909	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	611052	42509909	16619074	137	35755											
KCNN4	3783	genome.wustl.edu	37	chr19	44273604	44273604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cggccctcacgcgttgatggCggccagcagcttgcgctgat	5	8	14	14	5	1	2	1	2	0	0	1	2	1	2	2	3	3	4	2	3	0	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:44273604C>T	ENST00000262888.3	-	6	1434	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	347	Calmodulin-binding.				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)	p.A347T(1)		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)	GCGTTGATGGCGGCCAGCAGC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											73	67	69					19																	44273604		2203	4300	6503	SO:0001583	missense	0			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.1039G>A	19.37:g.44273604C>T	ENSP00000262888:p.Ala347Thr		Q53XR4	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom	p.A347T	ENST00000262888.3	37	c.1039	CCDS12630.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.394349	0.96009	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	D	0.99886	-7.52	5.23	5.23	0.72850	Calmodulin-binding domain (2);	0.113604	0.64402	D	0.000015	D	0.99880	0.9943	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96218	0.9158	10	0.87932	D	0	-17.5868	16.6654	0.85252	0.0:1.0:0.0:0.0	.	347	O15554	KCNN4_HUMAN	T	347;215	ENSP00000262888:A347T	ENSP00000262888:A347T	A	-	1	0	KCNN4	48965444	0.999000	0.42202	0.992000	0.48379	0.969000	0.65631	4.254000	0.58798	2.612000	0.88384	0.655000	0.94253	GCC	KCNN4	-	pfam_CaM-bd_dom,superfamily_CaM-bd_dom	ENSG00000104783		0.587	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNN4	HGNC	protein_coding	OTTHUMT00000463598.1		0	24	0	C	NM_002250		44273604	-1			no_errors	ENST00000262888	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.999	T	T	44273604	C	T	44273604	3	4	140	1	0	0	0	0	1	0	0	0	8108	768	27	1	256	1	KCNN4	19	44273604	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	1763695	44273604	14855379	138	35756											
ZNF613	79898	genome.wustl.edu	37	chr19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgtgacaaagcattccGctggaaatcacagctcaatg	14	9	9	9	1	2	2	2	2	0	0	3	3	3	3	1	1	2	3	1	1	4	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458																																																	0													97	97	97					19																	52448197		2203	4300	6503	SO:0001583	missense	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1061G>A	19.37:g.52448197G>A	ENSP00000293471:p.Arg354His		Q96SS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R354H	ENST00000293471.6	37	c.1061	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905323	0.52333	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.07567	3.18;3.18	3.26	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.950270	0.02940	N	0.140304	T	0.10981	0.0268	L	0.53249	1.67	0.22926	N	0.998558	B	0.25351	0.124	B	0.23419	0.046	T	0.32428	-0.9907	10	0.54805	T	0.06	.	4.6272	0.12484	0.1284:0.2282:0.6434:0.0	.	354	Q6PF04	ZN613_HUMAN	H	354;318;28	ENSP00000293471:R354H;ENSP00000375671:R318H	ENSP00000293471:R354H	R	+	2	0	ZNF613	57140009	0.000000	0.05858	0.793000	0.32043	0.922000	0.55478	-2.036000	0.01421	0.708000	0.31955	0.655000	0.94253	CGC	ZNF613	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176024		0.458	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2		0	44	0	G	NM_024840		52448197	1			no_errors	ENST00000293471	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.895	A	A	52448197	G	A	52448197	3	1	140	1	0	0	0	0	1	0	0	0	18086	1087	38	1	1075	1	ZNF613	19	52448197	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	8174593	52448197	6680786	139	35757											
ZNF468	90333	genome.wustl.edu	37	chr19	53344548	53344548	+	Silent	SNP	A	A	G	1	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	gaattatatgcgaaagcctcAtcacaaaccttacatttgta	15	12	5	9	1	2	0	2	0	0	0	2	2	2	0	2	0	4	1	2	0	7	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:53344548A>G	ENST00000595646.1	-	4	1119	c.999T>C	c.(997-999)gaT>gaC	p.D333D	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.D280D|ZNF468_ENST00000396409.4_Silent_p.D280D			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	333					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)		CGAAAGCCTCATCACAAACCT	0.358																																																	0													127	131	130					19																	53344548		2203	4300	6503	SO:0001819	synonymous_variant	0			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.999T>C	19.37:g.53344548A>G			A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D333	ENST00000595646.1	37	c.999	CCDS33094.1	19																																																																																			ZNF468	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204604		0.358	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	HGNC	protein_coding	OTTHUMT00000463098.1		0	30	0	A	NM_001008801		53344548	-1			no_errors	ENST00000595646	ensembl	human	known	74_37	silent	15.91	37	7	SNP	0.826	G	G	53344548	A	G	53344548	2	3	140	1	0	0	0	0	0	0	0	1	17976	214	8	4		4	ZNF468	19	53344548	Silent	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	896351	53344548	5784435	140	35758											
ZNF835	90485	genome.wustl.edu	37	chr19	57175612	57175612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccggtgctcggccagagaggCgctctggctgaagagcgcgc	6	5	17	13	5	1	3	0	1	1	2	2	4	1	3	2	4	2	3	2	4	1	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:57175612C>T	ENST00000537055.2	-	2	1186	c.955G>A	c.(955-957)Gcc>Acc	p.A319T		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G334fs*26(1)		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						GCCAGAGAGGCGCTCTGGCTG	0.701																																																	1	Deletion - Frameshift(1)	pancreas(1)											17	17	17					19																	57175612		2199	4295	6494	SO:0001583	missense	0			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.955G>A	19.37:g.57175612C>T	ENSP00000444747:p.Ala319Thr		B7Z5Y0|G3V1S0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A319T	ENST00000537055.2	37	c.955	CCDS56105.1	19	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438432	0.43326	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.36340	1.26	2.1	-3.11	0.05299	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16769	0.0403	N	0.13272	0.32	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.17961	-1.0352	9	0.56958	D	0.05	.	2.5737	0.04801	0.3689:0.2405:0.0:0.3906	.	341	Q9Y2P0	ZN835_HUMAN	T	341;319	ENSP00000444747:A319T	ENSP00000341756:A341T	A	-	1	0	ZNF835	61867424	0.000000	0.05858	0.033000	0.17914	0.777000	0.43975	-9.081000	0.00014	-0.726000	0.04895	-1.157000	0.01802	GCC	ZNF835	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127903		0.701	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1		0	31	0	C	NM_001005850		57175612	-1			no_errors	ENST00000537055	ensembl	human	known	74_37	missense	18.42	28	7	SNP	0.001	T	T	57175612	C	T	57175612	3	4	140	1	0	0	0	0	1	0	0	0	18234	768	27	1	660	1	ZNF835	19	57175612	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	3831064	57175612	1953371	141	35759											
VN1R1	57191	genome.wustl.edu	37	chr19	57967350	57967350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggagacaacagaagtCaataaaccttggggatctaa	17	6	11	7	0	2	3	1	0	1	3	2	5	2	4	1	3	2	1	1	3	6	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:57967350C>A	ENST00000321039.3	-	1	504	c.505G>T	c.(505-507)Gac>Tac	p.D169Y	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	169					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		CAACAGAAGTCAATAAACCTT	0.458																																																	0													95	87	90					19																	57967350		2203	4300	6503	SO:0001583	missense	0			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.505G>T	19.37:g.57967350C>A	ENSP00000322339:p.Asp169Tyr		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.D169Y	ENST00000321039.3	37	c.505	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	C	8.019	0.759145	0.15846	.	.	ENSG00000178201	ENST00000321039	T	0.09630	2.96	4.24	0.787	0.18596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.26775	0.159	B	0.24394	0.053	T	0.45440	-0.9261	9	0.19147	T	0.46	.	4.328	0.11050	0.1602:0.5947:0.1552:0.0899	.	169	Q9GZP7	VN1R1_HUMAN	Y	169	ENSP00000322339:D169Y	ENSP00000322339:D169Y	D	-	1	0	VN1R1	62659162	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.096000	0.15147	0.165000	0.19558	-0.188000	0.12872	GAC	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000178201		0.458	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1		0	42	0	C	NM_020633		57967350	-1			no_errors	ENST00000321039	ensembl	human	known	74_37	missense	6.67	41	3	SNP	0.000	A	A	57967350	C	A	57967350	3	1	140	1	0	0	0	0	1	0	0	0	17227	826	29	3	560	3	VN1R1	19	57967350	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	791738	57967350	1161633	142	35760											
ZNF587	84914	genome.wustl.edu	37	chr19	58369950	58369950	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgctttcaggttgttGgtgtggatcaaaagatgagg	8	16	13	4	0	3	2	2	1	1	1	3	3	3	3	0	4	1	3	0	4	2	5			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:58369950G>A	ENST00000339656.5	+	3	352	c.170G>A	c.(169-171)tGg>tAg	p.W57*	CTD-2583A14.10_ENST00000598031.1_Nonsense_Mutation_p.W57*|ZNF814_ENST00000595295.1_3'UTR|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.W56*|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.W14*|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF587B_ENST00000316462.4_3'UTR	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	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)			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)		TCAGGTTGTTGGTGTGGATCA	0.478																																					Pancreas(59;641 1233 1885 20055 50741)												0													64	65	65					19																	58369950		2203	4300	6503	SO:0001587	stop_gained	0			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.170G>A	19.37:g.58369950G>A	ENSP00000345479:p.Trp57*		A0AV72|G3V0H5|Q6ZMK8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W57*	ENST00000339656.5	37	c.170	CCDS12964.1	19	.	.	.	.	.	.	.	.	.	.	.	14.52	2.559365	0.45590	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	.	.	.	1.4	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	4.8253	0.13412	0.0:0.0:0.6382:0.3618	.	.	.	.	X	14;56;57;57;14	.	ENSP00000345479:W57X	W	+	2	0	ZNF587	63061762	0.000000	0.05858	0.084000	0.20598	0.077000	0.17291	0.432000	0.21461	1.066000	0.40716	0.195000	0.17529	TGG	ZNF587	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198466		0.478	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000337594.2		0	61	0	G	NM_032828		58369950	1			no_errors	ENST00000339656	ensembl	human	known	74_37	nonsense	12.66	69	10	SNP	0.816	A	A	58369950	G	A	58369950	4	1	140	1	0	0	0	0	0	1	0	0	18068	1357	47	3	180	3	ZNF587	19	58369950	Nonsense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	402600	58369950	759033	143	35761											
SRXN1	140809	genome.wustl.edu	37	chr20	629463	629463	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcagttgctggtaggcCgcgtagcggtggcagccccc	4	7	16	14	4	0	0	0	0	0	0	0	0	0	0	3	4	4	7	3	4	2	3	rs371093339		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr20:629463C>T	ENST00000381962.3	-	2	493	c.309G>A	c.(307-309)gcG>gcA	p.A103A	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	103					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GCTGGTAGGCCGCGTAGCGGT	0.612																																																	0								C		0,4406		0,0,2203	84	83	83		309	-8.5	0.4	20		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SRXN1	NM_080725.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		103/138	629463	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 139", "sulfiredoxin 1 homolog (S. cerevisiae)"	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.309G>A	20.37:g.629463C>T			B2R543|Q8NDM3|Q96AK6	Silent	SNP	pfam_ParB/Sulfiredoxin_dom,superfamily_ParB/Sulfiredoxin_dom,smart_ParB/Sulfiredoxin_dom,pirsf_Sulfiredoxin	p.A103	ENST00000381962.3	37	c.309	CCDS13005.1	20																																																																																			SRXN1	-	pfam_ParB/Sulfiredoxin_dom,superfamily_ParB/Sulfiredoxin_dom,smart_ParB/Sulfiredoxin_dom,pirsf_Sulfiredoxin	ENSG00000271303		0.612	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRXN1	HGNC	protein_coding	OTTHUMT00000077479.2		0	56	0	C	NM_080725		629463	-1			no_errors	ENST00000381962	ensembl	human	known	74_37	silent	38.24	42	26	SNP	0.435	T	T	629463	C	T	629463	2	4	140	1	0	0	0	0	0	0	0	1	15220	639	23	1		1	SRXN1	20	629463	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09		629463	62396057	144	35762											
SIGLEC1	6614	genome.wustl.edu	37	chr20	3677836	3677836	+	Missense_Mutation	SNP	A	A	G	1	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	tggccacgggcagcagtgtcAcggtctccaggggaccctgg	6	6	16	13	2	2	0	1	0	1	0	3	1	2	1	3	6	1	2	3	6	0	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr20:3677836A>G	ENST00000344754.4	-	9	2275	c.2276T>C	c.(2275-2277)gTg>gCg	p.V759A	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V759A	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	759	Ig-like C2-type 7.				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						CAGCAGTGTCACGGTCTCCAG	0.622																																																	0													86	84	84					20																	3677836		2203	4300	6503	SO:0001583	missense	0			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.2276T>C	20.37:g.3677836A>G	ENSP00000341141:p.Val759Ala		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V759A	ENST00000344754.4	37	c.2276	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798239	0.31777	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.12774	2.65;2.65	5.31	5.31	0.75309	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.325180	0.05410	N	0.542333	T	0.20740	0.0499	L	0.60455	1.87	0.09310	N	1	P;B	0.37122	0.583;0.338	B;B	0.37198	0.243;0.073	T	0.29852	-0.9998	10	0.87932	D	0	.	11.5683	0.50818	1.0:0.0:0.0:0.0	.	759;759	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	A	759	ENSP00000341141:V759A;ENSP00000202578:V759A	ENSP00000202578:V759A	V	-	2	0	SIGLEC1	3625836	0.006000	0.16342	0.136000	0.22124	0.178000	0.23041	2.224000	0.42945	2.227000	0.72691	0.459000	0.35465	GTG	SIGLEC1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000088827		0.622	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2		0	58	0	A	NM_023068		3677836	-1			no_errors	ENST00000344754	ensembl	human	known	74_37	missense	33.33	33	17	SNP	0.037	G	G	3677836	A	G	3677836	3	3	140	1	0	0	0	0	1	0	0	0	14350	159	6	4	2905	4	SIGLEC1	20	3677836	Missense_Mutation	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	3048373	3677836	59347684	145	35763											
PANK2	80025	genome.wustl.edu	37	chr20	3869972	3869972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggccgtccccagcctcGtcggattggcttcctgcgcg	2	11	13	15	5	0	0	0	0	0	0	4	1	2	1	5	3	2	1	5	3	0	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr20:3869972G>A	ENST00000316562.4	+	1	231	c.225G>A	c.(223-225)tcG>tcA	p.S75S	PANK2_ENST00000610179.1_5'Flank|RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	75					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						CCCCAGCCTCGTCGGATTGGC	0.682																																																	0													20	15	17					20																	3869972		2198	4297	6495	SO:0001819	synonymous_variant	0			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.225G>A	20.37:g.3869972G>A			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.S75	ENST00000316562.4	37	c.225	CCDS13071.2	20																																																																																			PANK2	-	NULL	ENSG00000125779		0.682	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANK2	HGNC	protein_coding	OTTHUMT00000077793.2		0	23	0	G	NM_024960		3869972	1			no_errors	ENST00000316562	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.003	A	A	3869972	G	A	3869972	2	1	140	1	0	0	0	0	0	0	0	1	11456	1132	40	1		1	PANK2	20	3869972	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	192136	3869972	59155548	146	35764											
NXT1	29107	genome.wustl.edu	37	chr20	23334730	23334730	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggcctgcagagctgctGaggagtttgtcaatgtctac	9	11	12	9	0	3	2	2	1	1	1	3	3	3	3	1	2	4	4	1	2	2	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr20:23334730G>T	ENST00000254998.2	+	2	439	c.52G>T	c.(52-54)Gag>Tag	p.E18*	RP3-322G13.7_ENST00000442884.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.5_ENST00000452395.1_RNA|RP3-322G13.5_ENST00000442440.1_RNA|RP3-322G13.5_ENST00000444981.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	18	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)		p.E18K(1)		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)					CAGAGCTGCTGAGGAGTTTGT	0.547																																																	1	Substitution - Missense(1)	ovary(1)											96	91	93					20																	23334730		2203	4300	6503	SO:0001587	stop_gained	0			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.52G>T	20.37:g.23334730G>T	ENSP00000254998:p.Glu18*			Nonsense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.E18*	ENST00000254998.2	37	c.52	CCDS13150.1	20	.	.	.	.	.	.	.	.	.	.	G	39	7.469451	0.98302	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	14.716	0.69269	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	ENSP00000254998:E18X	E	+	1	0	NXT1	23282730	1.000000	0.71417	0.972000	0.41901	0.958000	0.62258	8.768000	0.91737	2.941000	0.99782	0.655000	0.94253	GAG	NXT1	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000132661		0.547	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT1	HGNC	protein_coding	OTTHUMT00000078313.2		0	37	0	G	NM_013248		23334730	1			no_errors	ENST00000254998	ensembl	human	known	74_37	nonsense	6.45	28	2	SNP	0.998	T	T	23334730	G	T	23334730	4	4	140	1	0	0	0	0	0	1	0	0	10833	1291	45	3	54	3	NXT1	20	23334730	Nonsense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	19464758	23334730	39690790	147	35765											
JPH2	57158	genome.wustl.edu	37	chr20	42788954	42788954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgacagcgacgtgcgcagcGgcgagcgcaccaccacggcc	9	1	14	17	8	0	0	0	0	0	0	0	3	0	0	3	2	4	2	3	2	0	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr20:42788954G>A	ENST00000372980.3	-	2	1345	c.473C>T	c.(472-474)cCg>cTg	p.P158L		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	158					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGTGCGCAGCGGCGAGCGCAC	0.731																																																	0													13	6	8					20																	42788954		2056	4024	6080	SO:0001583	missense	0			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.473C>T	20.37:g.42788954G>A	ENSP00000362071:p.Pro158Leu		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.P158L	ENST00000372980.3	37	c.473	CCDS13325.1	20	.	.	.	.	.	.	.	.	.	.	g	19.85	3.903822	0.72754	.	.	ENSG00000149596	ENST00000372980	T	0.63096	-0.02	3.34	3.34	0.38264	.	0.000000	0.85682	U	0.000000	T	0.61874	0.2382	M	0.82323	2.585	0.80722	D	1	P	0.52692	0.955	B	0.37198	0.243	T	0.74019	-0.3799	10	0.59425	D	0.04	.	14.8586	0.70362	0.0:0.0:1.0:0.0	.	158	Q9BR39	JPH2_HUMAN	L	158	ENSP00000362071:P158L	ENSP00000362071:P158L	P	-	2	0	JPH2	42222368	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.016000	0.93645	1.700000	0.51204	0.306000	0.20318	CCG	JPH2	-	pirsf_Junctophilin	ENSG00000149596		0.731	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	HGNC	protein_coding	OTTHUMT00000080307.1		0	24	0	G			42788954	-1			no_errors	ENST00000372980	ensembl	human	known	74_37	missense	25.00	27	9	SNP	1.000	A	A	42788954	G	A	42788954	3	1	140	1	0	0	0	0	1	0	0	0	7988	1116	39	1	1633	1	JPH2	20	42788954	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	19454224	42788954	20236566	148	35766											
SEMG2	6407	genome.wustl.edu	37	chr20	43851851	43851851	+	Silent	SNP	G	G	A	0	0	1	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	ggccaaaatgcaaaaggaaaGtctggtcaatctgcagatag	16	7	11	7	0	3	1	1	0	2	1	3	2	3	2	1	3	2	2	1	3	7	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr20:43851851G>A	ENST00000372769.3	+	2	1668	c.1578G>A	c.(1576-1578)aaG>aaA	p.K526K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	526	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)				CAAAAGGAAAGTCTGGTCAAT	0.378																																																	0													93	81	85					20																	43851851		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1578G>A	20.37:g.43851851G>A			Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	pfam_Semenogelin	p.K526	ENST00000372769.3	37	c.1578	CCDS13346.1	20																																																																																			SEMG2	-	pfam_Semenogelin	ENSG00000124157		0.378	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMG2	HGNC	protein_coding	OTTHUMT00000079417.1		0	28	0	G	NM_003008		43851851	1			no_errors	ENST00000372769	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.000	A	A	43851851	G	A	43851851	2	1	140	1	0	0	0	0	0	0	0	1	14090	1020	36	3		3	SEMG2	20	43851851	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	1062897	43851851	19173669	149	35767											
BRWD1	54014	genome.wustl.edu	37	chr21	40590524	40590524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagcttgtggtttatagaGcaatttctctagctcatctg	9	15	8	9	0	3	1	1	0	2	1	4	1	3	1	1	1	3	4	1	1	4	6	rs145907251		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr21:40590524G>A	ENST00000333229.2	-	30	3772	c.3445C>T	c.(3445-3447)Ctc>Ttc	p.L1149F	BRWD1_ENST00000380800.3_Missense_Mutation_p.L1149F|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000342449.3_Missense_Mutation_p.L1149F	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1149					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)				GGTTTATAGAGCAATTTCTCT	0.348																																					Melanoma(170;988 1986 4794 16843 39731)												0													130	115	120					21																	40590524		2203	4299	6502	SO:0001583	missense	0			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.3445C>T	21.37:g.40590524G>A	ENSP00000330753:p.Leu1149Phe		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.L1149F	ENST00000333229.2	37	c.3445	CCDS13662.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.438683|3.438683	0.62955|0.62955	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441|ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.|T;T;T	.|0.61274	.|0.12;0.16;0.24	5.36|5.36	4.28|4.28	0.50868|0.50868	.|.	.|0.000000	.|0.56097	.|D	.|0.000021	T|T	0.72835|0.72835	0.3510|0.3510	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.995;0.997;0.999	.|D;D;D	.|0.76071	.|0.947;0.987;0.96	T|T	0.75657|0.75657	-0.3242|-0.3242	5|10	.|0.72032	.|D	.|0.01	-3.6035|-3.6035	12.7679|12.7679	0.57403|0.57403	0.1379:0.0:0.8621:0.0|0.1379:0.0:0.8621:0.0	.|.	.|1149;1149;1149	.|Q9NSI6-3;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	V|F	134|1149;1149;1149;153	.|ENSP00000330753:L1149F;ENSP00000344333:L1149F;ENSP00000370178:L1149F	.|ENSP00000330753:L1149F	A|L	-|-	2|1	0|0	BRWD1|BRWD1	39512394|39512394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.715000|0.715000	0.41141|0.41141	2.580000|2.580000	0.46068|0.46068	2.522000|2.522000	0.85027|0.85027	0.563000|0.563000	0.77884|0.77884	GCT|CTC	BRWD1	-	NULL	ENSG00000185658		0.348	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3		0	77	0	G	NM_033656		40590524	-1			no_errors	ENST00000333229	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	40590524	G	A	40590524	3	1	140	1	0	0	0	0	1	0	0	0	1529	971	34	3	3808	3	BRWD1	21	40590524	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09		40590524	7539371	150	35768											
TUBA8	51807	genome.wustl.edu	37	chr22	18613616	18613616	+	Missense_Mutation	SNP	A	A	G	1	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	tctgtgtccctcaggtgggcAtcaactaccagcccccgacc	7	8	9	17	1	3	0	2	0	1	0	4	1	4	0	5	2	3	1	5	2	2	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr22:18613616A>G	ENST00000330423.3	+	5	1136	c.1063A>G	c.(1063-1065)Atc>Gtc	p.I355V	TUBA8_ENST00000316027.6_Missense_Mutation_p.I289V	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	355					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						TCAGGTGGGCATCAACTACCA	0.607																																																	0													35	38	37					22																	18613616		2203	4299	6502	SO:0001583	missense	0			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.1063A>G	22.37:g.18613616A>G	ENSP00000333326:p.Ile355Val		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.I355V	ENST00000330423.3	37	c.1063	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	17.73	3.461514	0.63513	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.81821	-1.54;-1.54;-1.54	5.29	5.29	0.74685	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.052440	0.85682	D	0.000000	D	0.87071	0.6086	M	0.70275	2.135	0.58432	D	0.999995	B;P;B	0.42785	0.433;0.79;0.02	P;P;B	0.55455	0.776;0.742;0.074	D	0.88485	0.3071	10	0.87932	D	0	.	14.7158	0.69269	1.0:0.0:0.0:0.0	.	289;379;355	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	V	289;355;379	ENSP00000318575:I289V;ENSP00000333326:I355V;ENSP00000412646:I379V	ENSP00000318575:I289V	I	+	1	0	TUBA8	16993616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	2.123000	0.65237	0.533000	0.62120	ATC	TUBA8	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin	ENSG00000183785		0.607	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3		0	36	0	A	NM_018943		18613616	1			no_errors	ENST00000330423	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	G	G	18613616	A	G	18613616	3	3	140	1	0	0	0	0	1	0	0	0	16799	217	8	4	1081	4	TUBA8	22	18613616	Missense_Mutation	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09		18613616	32690950	151	35769											
COMT	1312	genome.wustl.edu	37	chr22	19956208	19956208	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gaatacagggaggtggtggaCggcctggagaaggccatcta	11	6	17	7	1	1	1	0	0	1	1	1	5	1	3	2	7	1	0	2	7	4	2	rs201893998		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr22:19956208C>T	ENST00000361682.6	+	6	1147	c.765C>T	c.(763-765)gaC>gaT	p.D255D	COMT_ENST00000406520.3_Silent_p.D255D|COMT_ENST00000403710.1_Silent_p.D255D|COMT_ENST00000407537.1_Silent_p.D205D|COMT_ENST00000449653.1_Silent_p.D205D	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	255					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	AGGTGGTGGACGGCCTGGAGA	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		15485	0		0	False		,,,				2504	0																0													75	63	67					22																	19956208		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.765C>T	22.37:g.19956208C>T			A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Silent	SNP	pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk	p.D255	ENST00000361682.6	37	c.765	CCDS13770.1	22																																																																																			COMT	-	pirsf_Catechol_O-MeTrfase_euk	ENSG00000093010		0.647	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	COMT	HGNC	protein_coding	OTTHUMT00000318936.2		0	17	0	C	NM_000754		19956208	1			no_errors	ENST00000361682	ensembl	human	known	74_37	silent	13.64	19	3	SNP	0.853	T	T	19956208	C	T	19956208	2	4	140	1	0	0	0	0	0	0	0	1	3732	535	19	1		1	COMT	22	19956208	Silent	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	1342592	19956208	31348358	152	35770											
RTDR1	27156	genome.wustl.edu	37	chr22	23406102	23406102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gacattaaggagcgcacgggCggccttgctgcggatgttct	7	9	15	10	4	1	0	0	0	1	0	1	3	1	2	1	4	3	3	1	4	1	3	rs145095630		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr22:23406102C>T	ENST00000216036.4	-	5	827	c.631G>A	c.(631-633)Gcc>Acc	p.A211T		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		211										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AGCGCACGGGCGGCCTTGCTG	0.627																																																	0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	76	68	71		631	4.7	0.1	22	dbSNP_134	71	0,8600		0,0,4300	no	missense	RTDR1	NM_014433.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	211/349	23406102	1,13005	2203	4300	6503	SO:0001583	missense	0																														ENST00000216036.4:c.631G>A	22.37:g.23406102C>T	ENSP00000216036:p.Ala211Thr			Missense_Mutation	SNP	pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold	p.A211T	ENST00000216036.4	37	c.631	CCDS13803.1	22	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971347	0.53614	2.27E-4	0.0	ENSG00000100218	ENST00000216036	T	0.21932	1.98	4.71	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.446678	0.23041	N	0.052619	T	0.50394	0.1613	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54139	-0.8338	10	0.45353	T	0.12	-23.3373	13.5018	0.61459	0.0:1.0:0.0:0.0	.	211	Q9UHP6	RTDR1_HUMAN	T	211	ENSP00000216036:A211T	ENSP00000216036:A211T	A	-	1	0	RTDR1	21736102	0.992000	0.36948	0.120000	0.21714	0.002000	0.02628	3.404000	0.52623	2.339000	0.79563	0.555000	0.69702	GCC	RTDR1	-	superfamily_ARM-type_fold	ENSG00000100218		0.627	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTDR1	HGNC	protein_coding	OTTHUMT00000319049.1		0	28	0	C			23406102	-1			no_errors	ENST00000216036	ensembl	human	known	74_37	missense	37.50	15	9	SNP	0.633	T	T	23406102	C	T	23406102	3	4	140	1	0	0	0	0	1	0	0	0	13764	768	27	1	427	1	RTDR1	22	23406102	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	3449894	23406102	27898464	153	35771											
DNAJB7	150353	genome.wustl.edu	37	chr22	41257666	41257666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaagcgagtcttcaaaGaagtgaaaagaaaatggatc	17	8	9	7	1	3	3	2	1	1	2	5	5	4	4	1	1	1	0	1	1	7	1			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr22:41257666G>T	ENST00000307221.4	-	1	464	c.333C>A	c.(331-333)ttC>ttA	p.F111L	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	111							chaperone binding (GO:0051087)	p.F111L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						AGTCTTCAAAGAAGTGAAAAG	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											80	86	84					22																	41257666		2201	4300	6501	SO:0001583	missense	0			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.333C>A	22.37:g.41257666G>T	ENSP00000307197:p.Phe111Leu		Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.F111L	ENST00000307221.4	37	c.333	CCDS14008.1	22	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545603	0.27652	.	.	ENSG00000172404	ENST00000307221	T	0.79033	-1.23	4.56	1.32	0.21799	.	0.097739	0.43260	N	0.000591	T	0.65749	0.2721	L	0.41710	1.295	0.80722	D	1	B	0.20671	0.047	B	0.23419	0.046	T	0.59016	-0.7533	10	0.54805	T	0.06	.	6.7416	0.23439	0.2926:0.0:0.7074:0.0	.	111	Q7Z6W7	DNJB7_HUMAN	L	111	ENSP00000307197:F111L	ENSP00000307197:F111L	F	-	3	2	DNAJB7	39587612	1.000000	0.71417	0.999000	0.59377	0.604000	0.37047	1.089000	0.30890	0.414000	0.25790	0.491000	0.48974	TTC	DNAJB7	-	superfamily_ConA-like_lec_gl_sf	ENSG00000172404		0.388	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB7	HGNC	protein_coding	OTTHUMT00000321765.1		0	38	0	G	NM_145174		41257666	-1			no_errors	ENST00000307221	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	41257666	G	T	41257666	3	4	140	1	0	0	0	0	1	0	0	0	4639	933	33	3	600	3	DNAJB7	22	41257666	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	17851564	41257666	10046900	154	35772											
SAPS2	9701	genome.wustl.edu	37	chr22	50879368	50879368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatggcgaccagaaggcagCgagtgccatggatgcggtga	10	5	18	8	3	0	2	0	1	0	1	0	6	0	4	2	5	3	1	2	5	1	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr22:50879368C>T	ENST00000216061.5	+	23	2883	c.2513C>T	c.(2512-2514)gCg>gTg	p.A838V	PPP6R2_ENST00000395741.3_Missense_Mutation_p.A805V|PPP6R2_ENST00000359139.3_Missense_Mutation_p.A805V|PPP6R2_ENST00000395744.3_Missense_Mutation_p.A804V			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	838						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						CAGAAGGCAGCGAGTGCCATG	0.692																																																	0													40	43	42					22																	50879368		2203	4300	6503	SO:0001583	missense	0			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.2513C>T	22.37:g.50879368C>T	ENSP00000216061:p.Ala838Val		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.A838V	ENST00000216061.5	37	c.2513		22	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954248	0.34471	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.74	-0.706	0.11249	.	1.930550	0.04326	N	0.351527	T	0.25901	0.0631	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.19935	0.04;0.031;0.018;0.031;0.013;0.031	B;B;B;B;B;B	0.15484	0.013;0.01;0.004;0.004;0.004;0.006	T	0.18524	-1.0334	10	0.34782	T	0.22	-1.3176	2.569	0.04790	0.19:0.4364:0.2248:0.1488	.	364;831;838;805;804;805	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	V	805;805;804;838	ENSP00000352051:A805V;ENSP00000379090:A805V;ENSP00000379093:A804V;ENSP00000216061:A838V	ENSP00000216061:A838V	A	+	2	0	PPP6R2	49226234	0.011000	0.17503	0.001000	0.08648	0.033000	0.12548	0.067000	0.14510	0.322000	0.23283	0.491000	0.48974	GCG	PPP6R2	-	NULL	ENSG00000100239		0.692	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1		0	86	0	C	NM_014678		50879368	1			no_errors	ENST00000216061	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.000	T	T	50879368	C	T	50879368	3	4	140	1	0	0	0	0	1	0	0	0	13882	768	27	1	2485	1	SAPS2	22	50879368	Missense_Mutation	SNP	C	TCGA-R6-A6DQ-01B-11D-A31U-09	9621702	50879368	425198	155	35773											
FANCB	2187	genome.wustl.edu	37	chrX	14862007	14862007	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatgccatattatcaattagGaaattctcacttcctgattt	13	16	4	8	0	2	1	2	1	1	0	4	2	3	2	2	1	1	0	2	1	6	6			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chrX:14862007G>C	ENST00000324138.3	-	9	2415	c.2262C>G	c.(2260-2262)ttC>ttG	p.F754L	FANCB_ENST00000398334.1_Missense_Mutation_p.F754L	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	754					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TATCAATTAGGAAATTCTCAC	0.348								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													75	73	74					X																	14862007		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2262C>G	X.37:g.14862007G>C	ENSP00000326819:p.Phe754Leu		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	NULL	p.F754L	ENST00000324138.3	37	c.2262	CCDS14161.1	X	.	.	.	.	.	.	.	.	.	.	G	0.762	-0.769001	0.02974	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.6	2.85	0.33270	.	0.756841	0.13152	N	0.409779	T	0.24236	0.0587	L	0.53249	1.67	0.09310	N	1	P	0.37207	0.587	B	0.34180	0.177	T	0.15954	-1.0419	9	0.11485	T	0.65	-0.7611	1.5782	0.02629	0.2197:0.1163:0.4728:0.1912	.	754	Q8NB91	FANCB_HUMAN	L	754	.	ENSP00000326819:F754L	F	-	3	2	FANCB	14771928	0.042000	0.20092	0.016000	0.15963	0.155000	0.21991	0.426000	0.21363	0.170000	0.19704	0.594000	0.82650	TTC	FANCB	-	NULL	ENSG00000181544		0.348	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1		0	62	0	G	NM_152633		14862007	-1			no_errors	ENST00000324138	ensembl	human	known	74_37	missense	33.33	30	15	SNP	0.017	C	C	14862007	G	C	14862007	3	2	140	1	0	0	0	0	1	0	0	0	5685	1165	41	5	321	5	FANCB	23	14862007	Missense_Mutation	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09		14862007	140408553	156	35774											
FAM123B	139285	genome.wustl.edu	37	chrX	63412561	63412561	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgtgctcatgaggcctGgctctgaccctctcaggccc	5	9	10	17	1	4	2	3	2	2	0	5	2	4	2	3	3	1	2	3	3	0	0			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chrX:63412561G>T	ENST00000330258.3	-	2	878	c.606C>A	c.(604-606)gcC>gcA	p.A202A	AMER1_ENST00000374869.3_Silent_p.A202A|AMER1_ENST00000403336.1_Silent_p.A202A	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	202					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)									CATGAGGCCTGGCTCTGACCC	0.582																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											49	44	46					X																	63412561		2202	4298	6500	SO:0001819	synonymous_variant	0			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.606C>A	X.37:g.63412561G>T			A2IB86|Q8N885	Silent	SNP	pfam_Uncharacterised_FAM123	p.A202	ENST00000330258.3	37	c.606	CCDS14377.2	X																																																																																			AMER1	-	pfam_Uncharacterised_FAM123	ENSG00000184675		0.582	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER1	HGNC	protein_coding	OTTHUMT00000316584.1		0	66	0	G	NM_152424		63412561	-1			no_errors	ENST00000330258	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.000	T	T	63412561	G	T	63412561	2	4	140	1	0	0	0	0	0	0	0	1	5442	1335	47	3		3	FAM123B	23	63412561	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	48550554	63412561	91857999	157	35775											
EFNB1	1947	genome.wustl.edu	37	chrX	68060496	68060496	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacatctactacaaggtctGagtgcccggcacggcctcag	10	7	11	13	2	3	1	1	1	2	0	3	2	3	1	2	3	4	1	2	3	4	2			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chrX:68060496G>A	ENST00000204961.4	+	5	1820	c.1040G>A	c.(1039-1041)tGa>tAa	p.*347*		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	0					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TACAAGGTCTGAGTGCCCGGC	0.657																																																	0													20	18	19					X																	68060496		2202	4299	6501	SO:0001819	synonymous_variant	0			U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"Ephrins"	3226	protein-coding gene	gene with protein product		300035	"craniofrontonasal syndrome (craniofrontonasal dysplasia)"	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.1040G>A	X.37:g.68060496G>A			D3DVU0	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.*347	ENST00000204961.4	37	c.1040	CCDS14391.1	X																																																																																			EFNB1	-	NULL	ENSG00000090776		0.657	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB1	HGNC	protein_coding	OTTHUMT00000057029.1		0	38	0	G	NM_004429		68060496	1			no_errors	ENST00000204961	ensembl	human	known	74_37	silent	34.38	21	11	SNP	1.000	A	A	68060496	G	A	68060496	2	1	140	1	0	0	0	0	0	0	0	1	4969	1285	45	3		3	EFNB1	23	68060496	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	4647935	68060496	87210064	158	35776											
CAPN6	827	genome.wustl.edu	37	chrX	110496391	110496391	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaaagtgaaatatcccagcGtatttttctgttttttgagg	10	16	9	6	2	1	2	0	2	1	0	2	3	2	2	1	1	1	2	1	1	4	7	rs17882737	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chrX:110496391G>A	ENST00000324068.1	-	4	518	c.351C>T	c.(349-351)taC>taT	p.Y117Y	CAPN6_ENST00000541758.1_De_novo_Start_OutOfFrame	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	117	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATATCCCAGCGTATTTTTCTG	0.403													G|||	314	0.0831788	0.2179	0.0288	3775	,	,		15883	0		0.006	False		,,,				2504	0																0								G		956,2879		93,615,155,924,416	112	106	108		351	2.2	1	X	dbSNP_124	108	38,6690		0,23,15,2405,1857	no	coding-synonymous	CAPN6	NM_014289.3		93,638,170,3329,2273	AA,AG,A,GG,G		0.5648,24.9283,9.4102		117/642	110496391	994,9569	2203	4300	6503	SO:0001819	synonymous_variant	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.351C>T	X.37:g.110496391G>A			D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Y117	ENST00000324068.1	37	c.351	CCDS14555.1	X																																																																																			CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000077274		0.403	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1		0	62	0	G			110496391	-1			no_errors	ENST00000324068	ensembl	human	known	74_37	silent	13.73	44	7	SNP	1.000	A	A	110496391	G	A	110496391	2	1	140	1	0	0	0	0	0	0	0	1	2637	1140	40	1		1	CAPN6	23	110496391	Silent	SNP	G	TCGA-R6-A6DQ-01B-11D-A31U-09	42435895	110496391	44774169	159	35777											
MAGEC2	51438	genome.wustl.edu	37	chrX	141290892	141290892	+	Silent	SNP	A	A	C	1	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	cacaggaattcataatatggAggagaactgtggggcacctc	13	8	12	8	0	1	1	1	0	0	1	2	4	1	3	1	5	1	1	1	5	4	3			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chrX:141290892A>C	ENST00000247452.3	-	3	1229	c.882T>G	c.(880-882)ccT>ccG	p.P294P		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	294	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CATAATATGGAGGAGAACTGT	0.498										HNSCC(46;0.14)																																							0													82	83	83					X																	141290892		2203	4300	6503	SO:0001819	synonymous_variant	0			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.882T>G	X.37:g.141290892A>C			Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P294	ENST00000247452.3	37	c.882	CCDS14678.1	X																																																																																			MAGEC2	-	pfam_MAGE,pfscan_MAGE	ENSG00000046774		0.498	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1		0	49	0	A	NM_016249		141290892	-1			no_errors	ENST00000247452	ensembl	human	known	74_37	silent	42.11	22	16	SNP	0.022	C	C	141290892	A	C	141290892	2	2	140	1	0	0	0	0	0	0	0	1	9219	291	11	4		4	MAGEC2	23	141290892	Silent	SNP	A	TCGA-R6-A6DQ-01B-11D-A31U-09	30794501	141290892	13979668	160	35778											
MTHFR	4524	genome.wustl.edu	37	chr1	11855311	11855311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatagttgcggatggcaGcatcgttgtctttgattggc	6	14	13	8	2	1	1	0	1	1	0	2	2	1	2	1	3	3	4	1	3	1	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:11855311G>A	ENST00000376592.1	-	5	1003	c.875C>T	c.(874-876)gCt>gTt	p.A292V	MTHFR_ENST00000376585.1_Missense_Mutation_p.A333V|MTHFR_ENST00000376590.3_Missense_Mutation_p.A292V|MTHFR_ENST00000376583.3_Missense_Mutation_p.A333V			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	292					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GCGGATGGCAGCATCGTTGTC	0.592																																																	0													114	105	108					1																	11855311		2203	4300	6503	SO:0001583	missense	0			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.875C>T	1.37:g.11855311G>A	ENSP00000365777:p.Ala292Val		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.A333V	ENST00000376592.1	37	c.998	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183294	0.38511	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.97	1.97	0.26223	.	0.100157	0.64402	D	0.000001	D	0.87928	0.6301	L	0.48218	1.51	0.54753	D	0.999989	B;B	0.17667	0.004;0.023	B;B	0.26614	0.014;0.071	T	0.79500	-0.1778	10	0.33141	T	0.24	.	10.3863	0.44143	0.0:0.1306:0.5985:0.2709	.	292;333	P42898;Q5SNW6	MTHR_HUMAN;.	V	292;333;292;333	ENSP00000365777:A292V;ENSP00000365767:A333V;ENSP00000365775:A292V;ENSP00000365770:A333V	ENSP00000365767:A333V	A	-	2	0	MTHFR	11777898	1.000000	0.71417	0.161000	0.22692	0.887000	0.51463	3.534000	0.53568	0.197000	0.20387	0.462000	0.41574	GCT	MTHFR	-	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	ENSG00000177000		0.592	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1		0	15	0	G	NM_005957		11855311	-1			no_errors	ENST00000376583	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.985	A	A	11855311	G	A	11855311	3	1	141	1	0	0	0	0	1	0	0	0	9969	971	34	3	1123	3	MTHFR	1	11855311	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09		11855311	237395310	1	35779											
FGR	2268	genome.wustl.edu	37	chr1	27942113	27942113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgccaccttagtgctgcCgttccacgtgcctgctcgga	5	9	10	17	4	0	0	0	0	0	0	2	1	1	1	6	1	4	3	6	1	1	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:27942113C>T	ENST00000374005.3	-	9	1138	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	FGR_ENST00000545953.1_Missense_Mutation_p.G218S|FGR_ENST00000399173.1_Missense_Mutation_p.G284S|FGR_ENST00000374004.1_Missense_Mutation_p.G284S	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTAGTGCTGCCGTTCCACGTG	0.677																																																	0													60	50	53					1																	27942113		2203	4300	6503	SO:0001583	missense	0			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.850G>A	1.37:g.27942113C>T	ENSP00000363117:p.Gly284Ser		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.G284S	ENST00000374005.3	37	c.850	CCDS305.1	1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654664	0.67472	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87	5.03	3.09	0.35607	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.301932	0.26948	N	0.021695	T	0.12263	0.0298	L	0.58354	1.805	0.27302	N	0.957555	B	0.32800	0.385	B	0.35039	0.194	T	0.10337	-1.0634	10	0.56958	D	0.05	.	8.3582	0.32342	0.16:0.757:0.0:0.0829	.	284	P09769	FGR_HUMAN	S	284;218;284;284;284;284	ENSP00000363117:G284S;ENSP00000445302:G218S;ENSP00000382126:G284S;ENSP00000363116:G284S;ENSP00000363115:G284S;ENSP00000407670:G284S	ENSP00000363115:G284S	G	-	1	0	FGR	27814700	1.000000	0.71417	0.027000	0.17364	0.983000	0.72400	4.880000	0.63107	0.591000	0.29711	0.491000	0.48974	GGC	FGR	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000000938		0.677	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGR	HGNC	protein_coding	OTTHUMT00000009772.1		0	30	0	C	NM_005248		27942113	-1			no_errors	ENST00000374003	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.988	T	T	27942113	C	T	27942113	3	4	141	1	0	0	0	0	1	0	0	0	5896	652	23	1	759	1	FGR	1	27942113	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	16086802	27942113	221308508	2	35780											
GJB5	2709	genome.wustl.edu	37	chr1	35223091	35223091	+	Missense_Mutation	SNP	A	A	G	1	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	accacaaggacttcgactgcAatactcgccagcccggctgc	10	6	9	16	3	0	0	0	0	0	0	2	2	0	1	3	2	4	2	3	2	3	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:35223091A>G	ENST00000338513.1	+	2	333	c.160A>G	c.(160-162)Aat>Gat	p.N54D	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	54					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)				CTTCGACTGCAATACTCGCCA	0.597																																																	0													132	113	120					1																	35223091		2203	4300	6503	SO:0001583	missense	0			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.160A>G	1.37:g.35223091A>G	ENSP00000340811:p.Asn54Asp		Q9UPA3	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311	p.N54D	ENST00000338513.1	37	c.160	CCDS382.1	1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567117	0.65651	.	.	ENSG00000189280	ENST00000338513	D	0.99382	-5.8	5.89	3.41	0.39046	Connexin, conserved site (1);Connexin, N-terminal (2);	0.094359	0.64402	N	0.000001	D	0.98661	0.9551	L	0.58510	1.815	0.45837	D	0.998703	P	0.34757	0.467	P	0.49561	0.615	D	0.97454	1.0030	10	0.59425	D	0.04	.	8.5155	0.33244	0.8244:0.0:0.1756:0.0	.	54	O95377	CXB5_HUMAN	D	54	ENSP00000340811:N54D	ENSP00000340811:N54D	N	+	1	0	GJB5	34995678	1.000000	0.71417	0.966000	0.40874	0.908000	0.53690	5.314000	0.65804	0.411000	0.25702	0.459000	0.35465	AAT	GJB5	-	pfam_Connexin_N,smart_Connexin_N,prints_Connexin	ENSG00000189280		0.597	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB5	HGNC	protein_coding	OTTHUMT00000011561.1		0	115	0	A	NM_005268		35223091	1			no_errors	ENST00000338513	ensembl	human	known	74_37	missense	21.05	75	20	SNP	1.000	G	G	35223091	A	G	35223091	3	3	141	1	0	0	0	0	1	0	0	0	6437	130	5	4	162	4	GJB5	1	35223091	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	7280978	35223091	214027530	3	35781											
MOBKL2C	148932	genome.wustl.edu	37	chr1	47078649	47078649	+	Silent	SNP	C	C	T	0	0	0	1	1	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	atgagcaatgccatatagcgCggcgcagagagcttggcggg	10	6	16	9	4	0	2	0	1	0	1	0	3	0	2	1	3	4	3	1	3	3	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:47078649C>T	ENST00000319928.3	-	2	575	c.345G>A	c.(343-345)ccG>ccA	p.P115P	MOB3C_ENST00000371940.1_Silent_p.P138P|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Silent_p.P167P|MOB3C_ENST00000477318.1_5'UTR	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	115							metal ion binding (GO:0046872)										CCATATAGCGCGGCGCAGAGA	0.662																																																	0													34	39	37					1																	47078649		2203	4299	6502	SO:0001819	synonymous_variant	0			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.345G>A	1.37:g.47078649C>T			D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.P167	ENST00000319928.3	37	c.501	CCDS540.1	1																																																																																			MOB3C	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000142961		0.662	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3C	HGNC	protein_coding			0	61	0	C	NM_145279		47078649	-1			no_errors	ENST00000271139	ensembl	human	known	74_37	silent	17.95	32	7	SNP	0.237	T	T	47078649	C	T	47078649	2	4	141	1	0	0	0	0	0	0	0	1	9724	755	27	1		1	MOBKL2C	1	47078649	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	11855558	47078649	202171972	4	35782											
TTC39A	22996	genome.wustl.edu	37	chr1	51755785	51755785	+	Missense_Mutation	SNP	T	T	G	0	1	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	actcgtcatccactgagtacTcgttctctgaaaatagggat	11	12	8	10	2	2	2	1	2	1	0	6	3	3	3	1	1	1	2	1	1	4	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:51755785T>G	ENST00000447632.2	-	16	1541	c.1493A>C	c.(1492-1494)gAg>gCg	p.E498A	TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000262675.7_Missense_Mutation_p.E435A|TTC39A_ENST00000413473.2_Missense_Mutation_p.E466A|TTC39A_ENST00000530004.1_Missense_Mutation_p.E106A|TTC39A_ENST00000371750.5_Missense_Mutation_p.E463A|TTC39A_ENST00000451380.1_Missense_Mutation_p.E462A			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	498								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						CACTGAGTACTCGTTCTCTGA	0.478																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											51	47	48					1																	51755785		1882	4127	6009	SO:0001583	missense	0			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.1493A>C	1.37:g.51755785T>G	ENSP00000393952:p.Glu498Ala		B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.E498A	ENST00000447632.2	37	c.1493		1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.990643	0.93106	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000525906	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);	0.089290	0.85682	D	0.000000	T	0.57562	0.2062	M	0.69185	2.1	0.80722	D	1	P;P;P;P;P	0.50943	0.593;0.815;0.873;0.815;0.94	B;P;P;P;P	0.53722	0.187;0.61;0.731;0.733;0.611	T	0.53760	-0.8393	10	0.15066	T	0.55	-32.7544	15.2818	0.73790	0.0:0.0:0.0:1.0	.	466;462;435;498;463	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9;G3XAF8	.;.;.;TT39A_HUMAN;.	A	106;498;466;435;462;463;106	ENSP00000431228:E106A;ENSP00000393952:E498A;ENSP00000406144:E466A;ENSP00000262675:E435A;ENSP00000397207:E462A;ENSP00000360815:E463A	ENSP00000262675:E435A	E	-	2	0	TTC39A	51528373	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.299000	0.65716	2.288000	0.76882	0.482000	0.46254	GAG	TTC39A	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000085831		0.478	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2		0	20	0	T			51755785	-1			no_errors	ENST00000447632	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	G	G	51755785	T	G	51755785	3	3	141	1	0	0	0	0	1	0	0	0	16756	1551	54	4	360	4	TTC39A	1	51755785	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	4677136	51755785	197494836	5	35783											
GBP2	2634	genome.wustl.edu	37	chr1	89573945	89573945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtctcttgctctcattctcGaatccctccttgagaaggcg	7	13	8	13	2	3	1	1	1	3	1	8	3	5	1	2	1	1	1	2	1	2	3	rs375772970		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:89573945G>A	ENST00000370466.3	-	11	1957	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	563					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)		TCTCATTCTCGAATCCCTCCT	0.423																																																	0								G		0,4406		0,0,2203	144	133	137		1689	-2.9	0	1		137	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GBP2	NM_004120.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		563/592	89573945	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1689C>T	1.37:g.89573945G>A			Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.F563	ENST00000370466.3	37	c.1689	CCDS719.1	1																																																																																			GBP2	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000162645		0.423	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	HGNC	protein_coding	OTTHUMT00000029406.2		0	66	0	G	NM_004120		89573945	-1			no_errors	ENST00000370466	ensembl	human	known	74_37	silent	20.51	62	16	SNP	0.000	A	A	89573945	G	A	89573945	2	1	141	1	0	0	0	0	0	0	0	1	6299	1049	37	1		1	GBP2	1	89573945	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	37818160	89573945	159676676	6	35784											
CDC14A	8556	genome.wustl.edu	37	chr1	100908535	100908535	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagacatttgatgtggatGaatatgaacattatgaggtt	13	15	11	2	0	0	5	0	5	0	1	0	7	0	6	0	2	1	1	0	2	4	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:100908535G>T	ENST00000336454.3	+	7	857	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000361544.6_Nonsense_Mutation_p.E168*|CDC14A_ENST00000544534.1_Nonsense_Mutation_p.E168*|CDC14A_ENST00000370124.3_Nonsense_Mutation_p.E168*|CDC14A_ENST00000542213.1_Nonsense_Mutation_p.E110*|CDC14A_ENST00000370125.2_Nonsense_Mutation_p.E168*	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	168	Linker.				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)		TGATGTGGATGAATATGAACA	0.284																																																	0													110	114	112					1																	100908535		2203	4297	6500	SO:0001587	stop_gained	0			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.502G>T	1.37:g.100908535G>T	ENSP00000336739:p.Glu168*		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E168*	ENST00000336454.3	37	c.502	CCDS769.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.400108	0.98262	.	.	ENSG00000079335	ENST00000542213;ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.4926	16.1134	0.81278	0.0:0.0:1.0:0.0	.	.	.	.	X	110;169;168;168;168;168;168	.	ENSP00000336739:E168X	E	+	1	0	CDC14A	100681123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.513000	0.81739	2.615000	0.88500	0.585000	0.79938	GAA	CDC14A	-	NULL	ENSG00000079335		0.284	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1		0	48	0	G	NM_033312		100908535	1			no_errors	ENST00000361544	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	T	T	100908535	G	T	100908535	4	4	141	1	0	0	0	0	0	1	0	0	3063	1291	45	3	528	3	CDC14A	1	100908535	Nonsense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	11334590	100908535	148342086	7	35785											
COL11A1	1301	genome.wustl.edu	37	chr1	103343652	103343652	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcattgatcatgacatCaacaataggtacttgatcaa	17	11	6	7	0	4	3	4	3	0	0	4	3	4	3	0	1	2	1	0	1	6	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:103343652C>A	ENST00000370096.3	-	67	5656	c.5344G>T	c.(5344-5346)Gat>Tat	p.D1782Y	COL11A1_ENST00000512756.1_Missense_Mutation_p.D1666Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D1743Y|COL11A1_ENST00000358392.2_Missense_Mutation_p.D1794Y	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1782	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)		ATCATGACATCAACAATAGGT	0.318																																																	0													103	97	99					1																	103343652		2203	4300	6503	SO:0001583	missense	0			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.5344G>T	1.37:g.103343652C>A	ENSP00000359114:p.Asp1782Tyr		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.D1794Y	ENST00000370096.3	37	c.5380	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699061	0.68501	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.36	5.36	0.76844	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	H	0.97051	3.93	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	0.96817	0.9601	10	0.87932	D	0	.	19.2914	0.94102	0.0:1.0:0.0:0.0	.	1666;1743;1794;1782;1002	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	Y	1782;1794;1743;1002;1666	ENSP00000359114:D1782Y;ENSP00000351163:D1794Y;ENSP00000302551:D1743Y;ENSP00000426533:D1666Y	ENSP00000302551:D1743Y	D	-	1	0	COL11A1	103116240	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.604000	0.82830	2.793000	0.96121	0.561000	0.74099	GAT	COL11A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000060718		0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0	66	0	C	NM_080630		103343652	-1			no_errors	ENST00000358392	ensembl	human	known	74_37	missense	38.60	35	22	SNP	1.000	A	A	103343652	C	A	103343652	3	1	141	1	0	0	0	0	1	0	0	0	3674	826	29	3	80	3	COL11A1	1	103343652	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	2435117	103343652	145906969	8	35786											
COL11A1	1301	genome.wustl.edu	37	chr1	103380335	103380335	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagctccaggtggaccagcTtcccctttctctcctctttc	4	13	7	17	0	2	0	0	0	2	0	7	1	5	1	5	2	2	3	5	2	0	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:103380335T>C	ENST00000370096.3	-	51	4161	c.3849A>G	c.(3847-3849)gaA>gaG	p.E1283E	COL11A1_ENST00000512756.1_Silent_p.E1167E|COL11A1_ENST00000353414.4_Silent_p.E1244E|COL11A1_ENST00000358392.2_Silent_p.E1295E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1283	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)		GTGGACCAGCTTCCCCTTTCT	0.463																																																	0													50	49	49					1																	103380335		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3849A>G	1.37:g.103380335T>C			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.E1295	ENST00000370096.3	37	c.3885	CCDS778.1	1																																																																																			COL11A1	-	NULL	ENSG00000060718		0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0	45	0	T	NM_080630		103380335	-1			no_errors	ENST00000358392	ensembl	human	known	74_37	silent	18.64	48	11	SNP	1.000	C	C	103380335	T	C	103380335	2	2	141	1	0	0	0	0	0	0	0	1	3674	1606	56	4		4	COL11A1	1	103380335	Silent	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	36683	103380335	145870286	9	35787											
SARS	6301	genome.wustl.edu	37	chr1	109780381	109780381	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gaactgatcccctttgtgaaGcctgcgcccattgagcagga	9	9	11	12	1	0	3	0	3	0	0	1	5	1	4	4	1	4	1	4	1	2	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:109780381G>T	ENST00000234677.2	+	11	1491	c.1416G>T	c.(1414-1416)aaG>aaT	p.K472N	SARS_ENST00000468588.1_3'UTR|SARS_ENST00000369923.4_Missense_Mutation_p.K494N	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	472					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CCTTTGTGAAGCCTGCGCCCA	0.512																																																	0													129	117	121					1																	109780381		2203	4300	6503	SO:0001583	missense	0			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1416G>T	1.37:g.109780381G>T	ENSP00000234677:p.Lys472Asn		B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	p.K494N	ENST00000234677.2	37	c.1482	CCDS795.1	1	.	.	.	.	.	.	.	.	.	.	N	16.34	3.096957	0.56075	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.79940	-1.25;-1.32	6.04	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	L	0.58428	1.81	0.80722	D	1	B;D;D;P	0.62365	0.195;0.983;0.991;0.955	B;P;P;P	0.58721	0.175;0.844;0.844;0.77	T	0.80322	-0.1431	10	0.52906	T	0.07	-29.4959	9.0349	0.36282	0.2697:0.0:0.7303:0.0	.	469;472;494;472	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	N	472;494	ENSP00000234677:K472N;ENSP00000358939:K494N	ENSP00000234677:K472N	K	+	3	2	SARS	109581904	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.810000	0.38932	1.575000	0.49775	0.585000	0.79938	AAG	SARS	-	pirsf_Ser-tRNA-ligase_type_1	ENSG00000031698		0.512	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2		0	59	0	G	NM_006513		109780381	1			no_errors	ENST00000369923	ensembl	human	known	74_37	missense	8.70	41	4	SNP	1.000	T	T	109780381	G	T	109780381	3	4	141	1	0	0	0	0	1	0	0	0	13889	962	34	3	1458	3	SARS	1	109780381	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	6400046	109780381	139470240	10	35788											
TDRKH	11022	genome.wustl.edu	37	chr1	151749017	151749017	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtggttagggtgctcagaAgcagaaacgtagacttctag	13	9	13	6	1	2	3	1	0	1	3	2	3	2	3	0	2	3	4	0	2	6	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:151749017A>G	ENST00000368822.1	-	7	1575	c.942T>C	c.(940-942)gcT>gcC	p.A314A	TDRKH_ENST00000368824.3_Silent_p.A314A|TDRKH_ENST00000368823.1_Silent_p.A310A|TDRKH_ENST00000440583.2_Silent_p.A90A|TDRKH_ENST00000458431.2_Silent_p.A314A|TDRKH_ENST00000368827.6_Silent_p.A314A|TDRKH_ENST00000484421.1_5'Flank|TDRKH_ENST00000368825.3_Silent_p.A269A			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	314					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)			GGTGCTCAGAAGCAGAAACGT	0.488																																																	0													112	111	111					1																	151749017		1938	4144	6082	SO:0001819	synonymous_variant	0			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.942T>C	1.37:g.151749017A>G			D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.A314	ENST00000368822.1	37	c.942	CCDS41394.1	1																																																																																			TDRKH	-	pfam_Tudor	ENSG00000182134		0.488	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TDRKH	HGNC	protein_coding	OTTHUMT00000036648.2		0	27	0	A	NM_006862		151749017	-1			no_errors	ENST00000368822	ensembl	human	known	74_37	silent	25.53	35	12	SNP	0.848	G	G	151749017	A	G	151749017	2	3	141	1	0	0	0	0	0	0	0	1	15784	59	3	4		4	TDRKH	1	151749017	Silent	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	41968636	151749017	97501604	11	35789											
CD1B	910	genome.wustl.edu	37	chr1	158299215	158299215	+	Silent	SNP	C	C	A	0	0	0	1	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	ctgtgcttcacccgacaggaCaggccagccgcctccccatc	7	6	9	19	2	1	0	1	0	0	0	3	2	2	1	6	2	2	1	6	2	0	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:158299215C>A	ENST00000368168.3	-	4	938	c.831G>T	c.(829-831)ctG>ctT	p.L277L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	277	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CCCGACAGGACAGGCCAGCCG	0.572																																																	0													93	87	89					1																	158299215		2203	4300	6503	SO:0001819	synonymous_variant	0			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.831G>T	1.37:g.158299215C>A			Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L277	ENST00000368168.3	37	c.831	CCDS1176.1	1																																																																																			CD1B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000158485		0.572	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	HGNC	protein_coding	OTTHUMT00000046350.2		0	49	0	C	NM_001764		158299215	-1			no_errors	ENST00000368168	ensembl	human	known	74_37	silent	34.78	30	16	SNP	0.022	A	A	158299215	C	A	158299215	2	1	141	1	0	0	0	0	0	0	0	1	2982	465	17	3		3	CD1B	1	158299215	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	6550198	158299215	90951406	12	35790											
CD1E	913	genome.wustl.edu	37	chr1	158326360	158326360	+	Missense_Mutation	SNP	A	A	G	1	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	ggtcatattggttgtagttgActcacggttaaaaaaacaga	14	12	10	5	1	2	2	2	1	0	1	2	2	2	2	0	3	1	4	0	3	6	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:158326360A>G	ENST00000368167.3	+	5	1216	c.977A>G	c.(976-978)gAc>gGc	p.D326G	CD1E_ENST00000368161.3_Nonstop_Mutation_p.*291W|CD1E_ENST00000444681.2_Missense_Mutation_p.D227G|CD1E_ENST00000368160.3_Missense_Mutation_p.D326G|CD1E_ENST00000368166.3_Missense_Mutation_p.D137G|CD1E_ENST00000452291.2_Missense_Mutation_p.D137G|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368155.3_Missense_Mutation_p.D181G|CD1E_ENST00000368165.3_Missense_Mutation_p.D236G|CD1E_ENST00000368156.1_Missense_Mutation_p.D236G|CD1E_ENST00000368163.3_Missense_Mutation_p.D271G|CD1E_ENST00000368164.3_Nonstop_Mutation_p.*102W|CD1E_ENST00000368157.1_Missense_Mutation_p.D82G|CD1E_ENST00000368154.1_Missense_Mutation_p.D82G	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	326					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTTGTAGTTGACTCACGGTTA	0.358																																																	0													91	84	86					1																	158326360		1840	4097	5937	SO:0001583	missense	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.977A>G	1.37:g.158326360A>G	ENSP00000357149:p.Asp326Gly		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.D326G	ENST00000368167.3	37	c.977	CCDS41417.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.018|0.018	-1.476865|-1.476865	0.01035|0.01035	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154|ENST00000368164;ENST00000368161	T;T;T;T;T;T;T;T;T;T;T|.	0.47528|.	5.35;4.82;3.54;3.59;3.7;3.53;0.85;4.84;3.75;3.59;0.84|.	4.61|4.61	-9.22|-9.22	0.00675|0.00675	.|.	2.440030|.	0.01406|.	N|.	0.013786|.	T|.	0.04634|.	0.0126|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B;P;B;B|.	0.50943|.	0.001;0.001;0.0;0.0;0.001;0.0;0.001;0.94;0.0;0.0|.	B;B;B;B;B;B;B;P;B;B|.	0.47402|.	0.001;0.002;0.0;0.001;0.001;0.0;0.001;0.546;0.001;0.0|.	T|.	0.20042|.	-1.0287|.	9|.	0.40728|.	T|.	0.16|.	4.3202|4.3202	1.6918|1.6918	0.02853|0.02853	0.1657:0.2264:0.3655:0.2424|0.1657:0.2264:0.3655:0.2424	.|.	227;236;181;137;326;326;137;82;236;271|.	E7EP01;P15812-5;P15812-7;P15812-9;P15812-2;P15812;P15812-8;P15812-11;P15812-6;P15812-4|.	.;.;.;.;.;CD1E_HUMAN;.;.;.;.|.	G|W	227;326;137;236;137;271;82;326;236;181;82|102;291	ENSP00000402906:D227G;ENSP00000357149:D326G;ENSP00000416228:D137G;ENSP00000357147:D236G;ENSP00000357148:D137G;ENSP00000357145:D271G;ENSP00000357139:D82G;ENSP00000357142:D326G;ENSP00000357138:D236G;ENSP00000357137:D181G;ENSP00000357136:D82G|.	ENSP00000357136:D82G|.	D|X	+|+	2|3	0|0	CD1E|CD1E	156592984|156592984	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.403000|-0.403000	0.07214|0.07214	-1.778000|-1.778000	0.01282|0.01282	-1.117000|-1.117000	0.02048|0.02048	GAC|TGA	CD1E	-	NULL	ENSG00000158488		0.358	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3		0	70	0	A	NM_030893		158326360	1			no_errors	ENST00000368167	ensembl	human	known	74_37	missense	19.70	53	13	SNP	0.000	G	G	158326360	A	G	158326360	3	3	141	1	0	0	0	0	1	0	0	0	2985	288	10	4	995	4	CD1E	1	158326360	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	27145	158326360	90924261	13	35791											
SPTA1	6708	genome.wustl.edu	37	chr1	158612245	158612245	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagcgctacactcaatcaGggagttccccaggttgatga	12	8	10	11	1	2	2	2	2	0	0	3	3	3	3	2	2	2	3	2	2	3	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:158612245G>C	ENST00000368147.4	-	33	4873	c.4693C>G	c.(4693-4695)Ctg>Gtg	p.L1565V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1565					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)					CACTCAATCAGGGAGTTCCCC	0.473																																																	0													105	104	105					1																	158612245		1987	4172	6159	SO:0001583	missense	0			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.4693C>G	1.37:g.158612245G>C	ENSP00000357129:p.Leu1565Val		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.L1565V	ENST00000368147.4	37	c.4693	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742374	0.49151	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.63255	-0.03;-0.03	5.26	2.42	0.29668	.	0.000000	0.26535	N	0.023838	T	0.74696	0.3750	M	0.91196	3.185	0.42859	D	0.9941	D	0.71674	0.998	D	0.75484	0.986	T	0.77960	-0.2391	10	0.87932	D	0	.	9.5335	0.39209	0.2299:0.0:0.7701:0.0	.	1565	P02549	SPTA1_HUMAN	V	1565	ENSP00000357130:L1565V;ENSP00000357129:L1565V	ENSP00000357129:L1565V	L	-	1	2	SPTA1	156878869	1.000000	0.71417	0.845000	0.33349	0.342000	0.28953	3.930000	0.56522	0.381000	0.24851	0.655000	0.94253	CTG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0	36	0	G	NM_003126		158612245	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	missense	28.57	20	8	SNP	1.000	C	C	158612245	G	C	158612245	3	2	141	1	0	0	0	0	1	0	0	0	15163	991	35	5	2646	5	SPTA1	1	158612245	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	285885	158612245	90638376	14	35792											
SLAMF8	56833	genome.wustl.edu	37	chr1	159805039	159805039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagagaacccccttgtgcagGatctgccataaaggacaata	14	7	9	11	0	1	1	0	0	1	1	1	4	1	3	3	2	3	1	3	2	5	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:159805039G>A	ENST00000289707.5	+	5	996	c.847G>A	c.(847-849)Gat>Aat	p.D283N	SLAMF8_ENST00000368104.4_Missense_Mutation_p.D174N|C1orf204_ENST00000491974.1_5'Flank|C1orf204_ENST00000368102.1_3'UTR|SLAMF8_ENST00000471286.1_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	283					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCTTGTGCAGGATCTGCCATA	0.493																																																	0													101	91	95					1																	159805039		2203	4300	6503	SO:0001583	missense	0			AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.847G>A	1.37:g.159805039G>A	ENSP00000289707:p.Asp283Asn		Q32MC6|Q5VU15	Missense_Mutation	SNP	pfscan_Ig-like_dom	p.D283N	ENST00000289707.5	37	c.847	CCDS1188.1	1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044543	0.55110	.	.	ENSG00000158714	ENST00000289707;ENST00000368104	T;T	0.33216	3.45;1.42	4.65	2.74	0.32292	.	3.387730	0.01579	N	0.020975	T	0.05640	0.0148	N	0.08118	0	0.47905	D	0.999546	B	0.26400	0.148	B	0.22601	0.04	T	0.34004	-0.9846	10	0.12766	T	0.61	4.7601	6.8632	0.24077	0.215:0.0:0.785:0.0	.	283	Q9P0V8	SLAF8_HUMAN	N	283;174	ENSP00000289707:D283N;ENSP00000357084:D174N	ENSP00000289707:D283N	D	+	1	0	SLAMF8	158071663	0.012000	0.17670	0.254000	0.24359	0.732000	0.41865	-0.048000	0.11944	0.660000	0.30964	0.650000	0.86243	GAT	SLAMF8	-	NULL	ENSG00000158714		0.493	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF8	HGNC	protein_coding	OTTHUMT00000085983.1		0	49	0	G	NM_020125		159805039	1			no_errors	ENST00000289707	ensembl	human	known	74_37	missense	25.81	46	16	SNP	0.571	A	A	159805039	G	A	159805039	3	1	141	1	0	0	0	0	1	0	0	0	14415	1174	41	3	865	3	SLAMF8	1	159805039	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	1192794	159805039	89445582	15	35793											
LY9	4063	genome.wustl.edu	37	chr1	160784259	160784259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggagactgtggtaggggtCctgggagagccagtcaccct	7	7	18	9	0	1	2	1	0	0	2	2	4	2	2	3	6	1	1	3	6	1	1	rs375232078		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:160784259C>T	ENST00000263285.6	+	4	810	c.780C>T	c.(778-780)gtC>gtT	p.V260V	LY9_ENST00000368037.5_Silent_p.V260V|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Silent_p.V260V|LY9_ENST00000368041.2_Silent_p.V220V|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Silent_p.V260V			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	260	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGGTAGGGGTCCTGGGAGAGC	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		16473	0		0	False		,,,				2504	0																0								C		2,4404	4.2+/-10.8	0,2,2201	66	66	66		780	2	0.2	1		66	0,8600		0,0,4300	no	coding-synonymous	LY9	NM_002348.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		260/656	160784259	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.780C>T	1.37:g.160784259C>T			A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.V260	ENST00000263285.6	37	c.780	CCDS30916.1	1																																																																																			LY9	-	smart_Ig_sub	ENSG00000122224		0.562	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	HGNC	protein_coding	OTTHUMT00000060457.3		0	11	0	C	NM_002348		160784259	1			no_errors	ENST00000263285	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.187	T	T	160784259	C	T	160784259	2	4	141	1	0	0	0	0	0	0	0	1	9137	842	30	3		3	LY9	1	160784259	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	979220	160784259	88466362	16	35794											
SELL	6402	genome.wustl.edu	37	chr1	169677719	169677719	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttcagtaagagatttgTtggttcccacccacgtccat	8	14	7	12	1	2	1	1	0	1	1	4	2	4	1	3	1	0	3	3	1	1	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:169677719T>G	ENST00000236147.4	-	3	510	c.350A>C	c.(349-351)aAc>aCc	p.N117T	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	104	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AAGAGATTTGTTGGTTCCCAC	0.458																																																	0													91	88	89					1																	169677719		2008	4185	6193	SO:0001583	missense	0			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.350A>C	1.37:g.169677719T>G	ENSP00000236147:p.Asn117Thr		B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.N117T	ENST00000236147.4	37	c.350	CCDS53427.1	1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283976	0.80803	.	.	ENSG00000188404	ENST00000236147	T	0.16897	2.31	5.62	4.5	0.54988	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.56097	D	0.000031	T	0.17874	0.0429	L	0.52759	1.655	0.46044	D	0.998833	D;D	0.60575	0.977;0.988	P;P	0.58721	0.844;0.844	T	0.01212	-1.1417	10	0.66056	D	0.02	-26.0503	10.281	0.43539	0.0:0.078:0.0:0.9219	.	117;104	Q8WW79;P14151	.;LYAM1_HUMAN	T	117	ENSP00000236147:N117T	ENSP00000236147:N117T	N	-	2	0	SELL	167944343	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.051000	0.41307	0.976000	0.38417	0.477000	0.44152	AAC	SELL	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin	ENSG00000188404		0.458	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	HGNC	protein_coding	OTTHUMT00000084233.1		0	56	0	T	NM_000655		169677719	-1			no_errors	ENST00000236147	ensembl	human	known	74_37	missense	30.16	44	19	SNP	1.000	G	G	169677719	T	G	169677719	3	3	141	1	0	0	0	0	1	0	0	0	14061	1725	60	4	835	4	SELL	1	169677719	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	8893460	169677719	79572902	17	35795											
RC3H1	149041	genome.wustl.edu	37	chr1	173934234	173934234	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagggtcttctcggaacCaggcgcttattcattttacg	8	13	9	11	3	4	0	2	0	2	0	5	1	4	1	1	3	2	1	1	3	4	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:173934234C>A	ENST00000367696.2	-	10	1710	c.1359G>T	c.(1357-1359)ctG>ctT	p.L453L	RC3H1_ENST00000258349.4_Silent_p.L453L|RC3H1_ENST00000367694.2_Silent_p.L453L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	453					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						TTCTCGGAACCAGGCGCTTAT	0.398																																																	0													57	56	56					1																	173934234		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1359G>T	1.37:g.173934234C>A			B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.L453	ENST00000367696.2	37	c.1359	CCDS30940.1	1																																																																																			RC3H1	-	NULL	ENSG00000135870		0.398	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2		0	46	0	C	NM_172071		173934234	-1			no_errors	ENST00000258349	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	A	A	173934234	C	A	173934234	2	1	141	1	0	0	0	0	0	0	0	1	13211	581	21	3		3	RC3H1	1	173934234	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	4256515	173934234	75316387	18	35796											
C1orf125	126859	genome.wustl.edu	37	chr1	179364289	179364289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaaaggaaacagaaaaagCccacaaggatttggcacaag	21	3	9	8	0	0	1	0	0	0	1	0	3	0	3	1	3	3	1	1	3	7	1	rs375180681		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:179364289C>T	ENST00000367618.3	+	11	1448	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V	AXDND1_ENST00000457238.2_Missense_Mutation_p.A354V|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	354										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						ACAGAAAAAGCCCACAAGGAT	0.358																																																	0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	161	177	172		1061	2.3	0.7	1		172	0,8600		0,0,4300	no	missense	AXDND1	NM_144696.4	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	354/1013	179364289	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1061C>T	1.37:g.179364289C>T	ENSP00000356590:p.Ala354Val		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.A354V	ENST00000367618.3	37	c.1061	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591887	0.46214	2.27E-4	0.0	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.58210	1.56;0.35;1.64	5.65	2.34	0.29019	.	0.416092	0.27996	N	0.017018	T	0.37019	0.0988	L	0.28400	0.85	0.21652	N	0.999604	B;B;B	0.24823	0.026;0.058;0.112	B;B;B	0.27076	0.047;0.076;0.029	T	0.19712	-1.0297	10	0.21014	T	0.42	-19.2707	9.9264	0.41494	0.0:0.7337:0.0:0.2663	.	312;354;354	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	V	354;312;354;288	ENSP00000356590:A354V;ENSP00000416712:A354V;ENSP00000391716:A288V	ENSP00000353471:A312V	A	+	2	0	AXDND1	177630912	1.000000	0.71417	0.711000	0.30485	0.338000	0.28826	2.880000	0.48530	0.744000	0.32741	-0.136000	0.14681	GCC	AXDND1	-	NULL	ENSG00000162779		0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1		0	64	0	C	NM_144696		179364289	1			no_errors	ENST00000367618	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.825	T	T	179364289	C	T	179364289	3	4	141	1	0	0	0	0	1	0	0	0	2000	739	26	3	1099	3	C1orf125	1	179364289	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	5430055	179364289	69886332	19	35797											
CACNA1E	777	genome.wustl.edu	37	chr1	181452908	181452908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcggggaggcggtggtcGccaggccagggtccggcgat	4	6	20	11	5	0	0	0	0	0	0	3	2	1	1	3	8	0	1	3	8	0	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:181452908G>T	ENST00000367573.2	+	1	28	c.28G>T	c.(28-30)Gcc>Tcc	p.A10S	CACNA1E_ENST00000367570.1_Missense_Mutation_p.A10S|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A10S|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A10S|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	10					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						GGCGGTGGTCGCCAGGCCAGG	0.642																																																	0													25	28	27					1																	181452908		1898	4106	6004	SO:0001583	missense	0			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.28G>T	1.37:g.181452908G>T	ENSP00000356545:p.Ala10Ser		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.A10S	ENST00000367573.2	37	c.28	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957478	0.34565	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000360108;ENST00000367573	D;D;D;D;D	0.97378	-4.36;-3.94;-3.94;-3.94;-3.95	5.28	5.28	0.74379	.	0.395622	0.20432	N	0.092457	D	0.92374	0.7580	N	0.08118	0	0.80722	D	1	B	0.22683	0.073	B	0.22753	0.041	D	0.88738	0.3241	10	0.33141	T	0.24	.	17.6827	0.88248	0.0:0.0:1.0:0.0	.	10	Q15878-3	.	S	10	ENSP00000432038:A10S;ENSP00000356542:A10S;ENSP00000434814:A10S;ENSP00000353222:A10S;ENSP00000356545:A10S	ENSP00000353222:A10S	A	+	1	0	CACNA1E	179719531	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.887000	0.56197	2.474000	0.83562	0.561000	0.74099	GCC	CACNA1E	-	NULL	ENSG00000198216		0.642	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2		0	62	0	G	NM_000721		181452908	1			no_errors	ENST00000367573	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	181452908	G	T	181452908	3	4	141	1	0	0	0	0	1	0	0	0	2549	1087	38	2	30	2	CACNA1E	1	181452908	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	2088619	181452908	67797713	20	35798											
HMCN1	83872	genome.wustl.edu	37	chr1	185891577	185891577	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctattgatttccgagctggcTtttctcgaaagcccaccctg	7	13	8	13	2	1	1	0	1	1	0	3	3	2	1	3	1	2	2	3	1	2	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:185891577T>G	ENST00000271588.4	+	7	1196	c.967T>G	c.(967-969)Ttt>Gtt	p.F323V	HMCN1_ENST00000367492.2_Missense_Mutation_p.F323V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	323					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						CCGAGCTGGCTTTTCTCGAAA	0.413																																																	0													69	65	67					1																	185891577		2203	4300	6503	SO:0001583	missense	0			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.967T>G	1.37:g.185891577T>G	ENSP00000271588:p.Phe323Val		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.F323V	ENST00000271588.4	37	c.967	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896058	0.91962	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.81579	-1.5;-1.51	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.89983	0.6873	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90941	0.4797	10	0.54805	T	0.06	.	15.486	0.75569	0.0:0.0:0.0:1.0	.	323	Q96RW7	HMCN1_HUMAN	V	323	ENSP00000271588:F323V;ENSP00000356462:F323V	ENSP00000271588:F323V	F	+	1	0	HMCN1	184158200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.045000	0.60652	0.533000	0.62120	TTT	HMCN1	-	NULL	ENSG00000143341		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	50	0	T	NM_031935		185891577	1			no_errors	ENST00000271588	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	G	G	185891577	T	G	185891577	3	3	141	1	0	0	0	0	1	0	0	0	7247	1609	56	4	993	4	HMCN1	1	185891577	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	4438669	185891577	63359044	21	35799											
HMCN1	83872	genome.wustl.edu	37	chr1	186031030	186031030	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatggaagatgctggcCaatatacttgcgttgtaagg	12	10	11	8	1	0	1	0	0	0	1	0	2	0	2	2	3	3	3	2	3	6	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:186031030C>T	ENST00000271588.4	+	47	7589	c.7360C>T	c.(7360-7362)Caa>Taa	p.Q2454*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q2454*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2454	Ig-like C2-type 22.				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						AGATGCTGGCCAATATACTTG	0.373																																																	0													117	128	125					1																	186031030		2203	4300	6503	SO:0001587	stop_gained	0			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.7360C>T	1.37:g.186031030C>T	ENSP00000271588:p.Gln2454*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.Q2454*	ENST00000271588.4	37	c.7360	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	48	14.581008	0.99801	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.39	5.39	0.77823	.	0.188298	0.45361	D	0.000380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	13.7008	0.62608	0.1543:0.8457:0.0:0.0	.	.	.	.	X	2454	.	ENSP00000271588:Q2454X	Q	+	1	0	HMCN1	184297653	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	2.975000	0.49281	2.528000	0.85240	0.591000	0.81541	CAA	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143341		0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	74	0	C	NM_031935		186031030	1			no_errors	ENST00000271588	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	1.000	T	T	186031030	C	T	186031030	4	4	141	1	0	0	0	0	0	1	0	0	7247	595	21	3	7546	3	HMCN1	1	186031030	Nonsense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	139453	186031030	63219591	22	35800											
FAM5C	339479	genome.wustl.edu	37	chr1	190068039	190068039	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaggcttgcagagcccctgGctgagcatgtagccggtgtt	6	10	14	11	1	1	2	1	1	0	1	1	2	1	2	3	3	4	6	3	3	1	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:190068039G>A	ENST00000367462.3	-	8	1641	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	BRINP3_ENST00000534846.1_Silent_p.S368S	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	470					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)											AGAGCCCCTGGCTGAGCATGT	0.577																																																	0													100	101	101					1																	190068039		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1410C>T	1.37:g.190068039G>A			B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	pfam_MACPF,smart_MACPF	p.S470	ENST00000367462.3	37	c.1410	CCDS1373.1	1																																																																																			BRINP3	-	NULL	ENSG00000162670		0.577	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1		0	26	0	G	NM_199051		190068039	-1			no_errors	ENST00000367462	ensembl	human	known	74_37	silent	29.41	12	5	SNP	0.995	A	A	190068039	G	A	190068039	2	1	141	1	0	0	0	0	0	0	0	1	5616	1194	42	3		3	FAM5C	1	190068039	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	4037009	190068039	59182582	23	35801											
KDM5B	10765	genome.wustl.edu	37	chr1	202709863	202709863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactgagtctttcagagccGcaccattgggcagatatgca	10	9	11	11	1	2	3	1	1	1	2	2	3	2	3	2	1	2	4	2	1	1	3	rs575015025		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:202709863G>A	ENST00000367265.3	-	20	4187	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V	KDM5B_ENST00000367264.2_Missense_Mutation_p.A1044V	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1008					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						TTTCAGAGCCGCACCATTGGG	0.453																																																	0													79	82	81					1																	202709863		2203	4300	6503	SO:0001583	missense	0			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.3023C>T	1.37:g.202709863G>A	ENSP00000356234:p.Ala1008Val		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.A1044V	ENST00000367265.3	37	c.3131	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542824	0.27563	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.47869	0.83;0.83;0.83	5.73	0.0137	0.14097	Lysine-specific demethylase-like domain (1);	0.802027	0.11905	N	0.518256	T	0.38612	0.1047	L	0.48642	1.525	0.09310	N	1	B;B	0.13594	0.008;0.007	B;B	0.14023	0.004;0.01	T	0.28490	-1.0042	10	0.30078	T	0.28	-1.7373	11.0055	0.47631	0.6727:0.0:0.3273:0.0	.	1044;1008	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	V	1008;850;1044;850	ENSP00000356234:A1008V;ENSP00000356233:A1044V;ENSP00000235790:A850V	ENSP00000235790:A850V	A	-	2	0	KDM5B	200976486	0.001000	0.12720	0.011000	0.14972	0.953000	0.61014	0.539000	0.23175	-0.126000	0.11682	0.557000	0.71058	GCG	KDM5B	-	pfam_Lys_sp_deMease_like_dom	ENSG00000117139		0.453	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2		0	36	0	G	NM_006618		202709863	-1			no_errors	ENST00000367264	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.001	A	A	202709863	G	A	202709863	3	1	141	1	0	0	0	0	1	0	0	0	8161	1087	38	1	1643	1	KDM5B	1	202709863	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	12641824	202709863	46540758	24	35802											
OPTC	26254	genome.wustl.edu	37	chr1	203472138	203472138	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcgctctgtacacctgcagGtaaggagcaccacccagagc	10	6	11	14	1	1	1	0	0	1	1	1	2	1	2	3	2	5	5	3	2	2	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:203472138G>A	ENST00000367222.2	+	6	944		c.e6+1			NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin						negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACACCTGCAGGTAAGGAGCAC	0.562																																																	0													45	46	46					1																	203472138		2203	4299	6502	SO:0001630	splice_region_variant	0			AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"oculoglycan"	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.828+1G>A	1.37:g.203472138G>A			Q5T2G4	Splice_Site	SNP	-	e5+1	ENST00000367222.2	37	c.828+1	CCDS1439.1	1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017538	0.54576	.	.	ENSG00000188770	ENST00000367222	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2504	0.60048	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OPTC	201738761	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	6.459000	0.73513	2.219000	0.72066	0.514000	0.50259	.	OPTC	-	-	ENSG00000188770		0.562	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPTC	HGNC	protein_coding	OTTHUMT00000087964.1		0	26	0	G	NM_014359	Intron	203472138	1			no_errors	ENST00000367222	ensembl	human	known	74_37	splice_site	21.74	18	5	SNP	1.000	A	A	203472138	G	A	203472138	5	1	141	1	0	0	0	0	0	0	1	0	10927	1275	44	3	847	3	OPTC	1	203472138	Splice_Site	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	762275	203472138	45778483	25	35803											
ANGEL2	90806	genome.wustl.edu	37	chr1	213174199	213174199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatacctaggtttgggggcCaaattggaatagataaaatt	15	11	11	4	0	0	2	0	0	0	2	0	3	0	3	2	4	1	1	2	4	7	7			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:213174199C>A	ENST00000366962.3	-	6	1344	c.1190G>T	c.(1189-1191)tGg>tTg	p.W397L	ANGEL2_ENST00000544555.1_Missense_Mutation_p.W228L|ANGEL2_ENST00000360506.2_Missense_Mutation_p.W228L|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Missense_Mutation_p.W271L|ANGEL2_ENST00000473303.1_5'UTR	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	397										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GTTTGGGGGCCAAATTGGAAT	0.378																																																	0													80	74	76					1																	213174199		2203	4300	6503	SO:0001583	missense	0			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1190G>T	1.37:g.213174199C>A	ENSP00000355929:p.Trp397Leu		B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.W397L	ENST00000366962.3	37	c.1190	CCDS1512.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226965	0.79576	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642	T;T;T;T	0.39056	2.02;1.1;1.1;1.66	5.5	5.5	0.81552	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	L	0.45228	1.405	0.80722	D	1	D;B	0.55605	0.972;0.379	P;B	0.60068	0.868;0.418	T	0.34650	-0.9820	10	0.15952	T	0.53	-10.7555	19.4006	0.94627	0.0:1.0:0.0:0.0	.	271;397	F5H476;Q5VTE6	.;ANGE2_HUMAN	L	397;228;228;271	ENSP00000355929:W397L;ENSP00000353696:W228L;ENSP00000443193:W228L;ENSP00000446124:W271L	ENSP00000353696:W228L	W	-	2	0	ANGEL2	211240822	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.219000	0.72231	2.571000	0.86741	0.650000	0.86243	TGG	ANGEL2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000174606		0.378	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	HGNC	protein_coding	OTTHUMT00000089693.1		0	68	0	C	NM_144567		213174199	-1			no_errors	ENST00000366962	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	213174199	C	A	213174199	3	1	141	1	0	0	0	0	1	0	0	0	609	595	21	3	460	3	ANGEL2	1	213174199	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	9702061	213174199	36076422	26	35804											
ITPKB	3707	genome.wustl.edu	37	chr1	226825421	226825421	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacttctagagtggttcGaatggccttcagccggtccc	9	10	11	11	2	2	2	1	0	1	2	4	3	3	2	3	3	2	1	3	3	3	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:226825421G>T	ENST00000272117.3	-	6	2583	c.2584C>A	c.(2584-2586)Cga>Aga	p.R862R	ITPKB_ENST00000429204.1_Silent_p.R862R			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	862					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)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGAGTGGTTCGAATGGCCTTC	0.552											OREG0014299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(84;110 1851 5306 33547)												0													87	81	83					1																	226825421		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2584C>A	1.37:g.226825421G>T		2315	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	pfam_IPK	p.R862	ENST00000272117.3	37	c.2584	CCDS1555.1	1																																																																																			ITPKB	-	pfam_IPK	ENSG00000143772		0.552	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1		0	28	0	G	NM_002221		226825421	-1			no_errors	ENST00000272117	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.991	T	T	226825421	G	T	226825421	2	4	141	1	0	0	0	0	0	0	0	1	7945	1066	37	2		2	ITPKB	1	226825421	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	13651222	226825421	22425200	27	35805											
OR2T33	391195	genome.wustl.edu	37	chr1	248436861	248436861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagatggccttacttcCggtcaagtagtcagccgcca	8	8	13	12	3	2	1	2	0	0	1	3	2	3	1	4	3	2	1	4	3	3	3	rs139302289	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:248436861C>T	ENST00000318021.2	-	1	277	c.256G>A	c.(256-258)Gga>Aga	p.G86R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	86						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)			GCCTTACTTCCGGTCAAGTAG	0.567													c|||	2	0.000399361	0.0015	0	5008	,	,		17555	0		0	False		,,,				2504	0																0								C	ARG/GLY	5,4401		0,5,2198	87	79	82		256	0.2	0	1	dbSNP_134	82	0,8594		0,0,4297	no	missense	OR2T33	NM_001004695.1	125	0,5,6495	TT,TC,CC		0.0,0.1135,0.0385	possibly-damaging	86/321	248436861	5,12995	2203	4297	6500	SO:0001583	missense	0				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.256G>A	1.37:g.248436861C>T	ENSP00000324687:p.Gly86Arg		B2RNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G86R	ENST00000318021.2	37	c.256	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	10.87	1.471518	0.26423	0.001135	0.0	ENSG00000177212	ENST00000318021	T	0.02944	4.1	2.7	0.212	0.15240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35870	U	0.002929	T	0.07503	0.0189	M	0.66939	2.045	0.09310	N	1	D	0.63046	0.992	P	0.56398	0.797	T	0.08186	-1.0734	10	0.66056	D	0.02	.	7.9295	0.29893	0.1533:0.5768:0.2699:0.0	.	86	Q8NG76	O2T33_HUMAN	R	86	ENSP00000324687:G86R	ENSP00000324687:G86R	G	-	1	0	OR2T33	246503484	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.337000	0.07852	0.366000	0.24427	0.494000	0.49563	GGA	OR2T33	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177212		0.567	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1		0	134	0	C	NM_001004695		248436861	-1			no_errors	ENST00000318021	ensembl	human	known	74_37	missense	44.00	112	88	SNP	0.000	T	T	248436861	C	T	248436861	3	4	141	1	0	0	0	0	1	0	0	0	11063	661	23	1	709	1	OR2T33	1	248436861	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	21611440	248436861	813760	28	35806											
NBAS	51594	genome.wustl.edu	37	chr2	15618399	15618399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcctccaatcaggattaagGtcatcatagcctggctaaat	13	10	8	10	0	3	0	3	0	0	0	4	1	4	1	3	3	2	1	3	3	5	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:15618399G>T	ENST00000281513.5	-	13	1123	c.1098C>A	c.(1096-1098)gaC>gaA	p.D366E	NBAS_ENST00000441750.1_Missense_Mutation_p.D366E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	366					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						CAGGATTAAGGTCATCATAGC	0.308																																																	0													66	65	65					2																	15618399		2203	4299	6502	SO:0001583	missense	0			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.1098C>A	2.37:g.15618399G>T	ENSP00000281513:p.Asp366Glu		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.D366E	ENST00000281513.5	37	c.1098	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	6.249	0.414021	0.11870	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.41065	1.01;1.01	5.47	-0.948	0.10379	Quinoprotein amine dehydrogenase, beta chain-like (1);	0.155386	0.56097	N	0.000026	T	0.09992	0.0245	N	0.00308	-1.67	0.19945	N	0.999948	B	0.02656	0.0	B	0.01281	0.0	T	0.33292	-0.9874	10	0.87932	D	0	.	5.1091	0.14800	0.0676:0.1687:0.3937:0.37	.	366	A2RRP1	NBAS_HUMAN	E	366	ENSP00000413201:D366E;ENSP00000281513:D366E	ENSP00000281513:D366E	D	-	3	2	NBAS	15535850	0.542000	0.26426	0.998000	0.56505	0.999000	0.98932	-0.472000	0.06623	0.029000	0.15352	0.655000	0.94253	GAC	NBAS	-	superfamily_Quino_amine_DH_bsu	ENSG00000151779		0.308	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1		0	31	0	G	NM_015909		15618399	-1			no_errors	ENST00000281513	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.978	T	T	15618399	G	T	15618399	3	4	141	1	0	0	0	0	1	0	0	0	10224	1252	44	3	6177	3	NBAS	2	15618399	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09		15618399	227580974	29	35807											
PLB1	151056	genome.wustl.edu	37	chr2	28804940	28804940	+	Silent	SNP	C	C	T	0	0	0	1	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	ttcctcttcctgcaggtccaCtattctccccagaacttcac	7	13	4	17	0	3	1	1	0	2	1	7	1	6	1	5	1	2	1	5	1	2	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:28804940C>T	ENST00000327757.5	+	24	1616	c.1572C>T	c.(1570-1572)caC>caT	p.H524H	PLB1_ENST00000329020.6_Silent_p.H212H|PLB1_ENST00000422425.2_Intron	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	524	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)					TGCAGGTCCACTATTCTCCCC	0.498																																																	0													106	92	97					2																	28804940		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1572C>T	2.37:g.28804940C>T			A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	pfam_Lipase_GDSL	p.H212	ENST00000327757.5	37	c.636	CCDS33168.1	2																																																																																			PLB1	-	pfam_Lipase_GDSL	ENSG00000163803		0.498	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2		0	45	0	C			28804940	1			no_errors	ENST00000329020	ensembl	human	known	74_37	silent	17.02	39	8	SNP	0.001	T	T	28804940	C	T	28804940	2	4	141	1	0	0	0	0	0	0	0	1	12063	564	20	3		3	PLB1	2	28804940	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	13186541	28804940	214394433	30	35808											
CAPN13	92291	genome.wustl.edu	37	chr2	30987153	30987153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagccatagtgcagatCggaataggatccgagcagcc	13	5	14	9	2	0	1	0	0	0	1	2	6	1	4	3	3	4	2	3	3	4	2	rs200327194		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:30987153C>A	ENST00000295055.8	-	6	720	c.544G>T	c.(544-546)Gat>Tat	p.D182Y	CAPN13_ENST00000534090.2_Missense_Mutation_p.D182Y|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	182	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)					TAGTGCAGATCGGAATAGGAT	0.587																																																	0													51	52	52					2																	30987153		2099	4214	6313	SO:0001583	missense	0				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.544G>T	2.37:g.30987153C>A	ENSP00000295055:p.Asp182Tyr		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D182Y	ENST00000295055.8	37	c.544	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	C	6.883	0.532332	0.13127	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87571	-2.27;-2.27	5.22	-4.44	0.03557	Peptidase C2, calpain, catalytic domain (3);	0.413559	0.29846	N	0.011058	T	0.74222	0.3688	L	0.28400	0.85	0.09310	N	1	B	0.16802	0.019	B	0.22152	0.038	T	0.62455	-0.6851	10	0.59425	D	0.04	.	6.3337	0.21285	0.0736:0.0913:0.2088:0.6264	.	182	Q6MZZ7	CAN13_HUMAN	Y	182	ENSP00000295055:D182Y;ENSP00000431298:D182Y	ENSP00000295055:D182Y	D	-	1	0	CAPN13	30840657	0.024000	0.19004	0.023000	0.16930	0.241000	0.25554	0.590000	0.23954	-0.388000	0.07797	-0.502000	0.04539	GAT	CAPN13	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000162949		0.587	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2		0	41	0	C	NM_144575		30987153	-1			no_errors	ENST00000295055	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.001	A	A	30987153	C	A	30987153	3	1	141	1	0	0	0	0	1	0	0	0	2633	884	31	2	1533	2	CAPN13	2	30987153	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	2182213	30987153	212212220	31	35809											
PLEKHH2	130271	genome.wustl.edu	37	chr2	43927611	43927611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agttttagagaatatggacaCgagttgtgatgatggattat	13	14	12	2	1	0	3	0	2	0	1	0	7	0	5	0	2	0	2	0	2	4	5	rs147485721		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:43927611C>T	ENST00000282406.4	+	8	1624	c.1514C>T	c.(1513-1515)aCg>aTg	p.T505M		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	505					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)				AATATGGACACGAGTTGTGAT	0.413													c|||	1	0.000199681	0	0	5008	,	,		20841	0.001		0	False		,,,				2504	0																0								T	MET/THR	0,4406		0,0,2203	179	175	176		1514	3.5	0.8	2	dbSNP_134	176	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLEKHH2	NM_172069.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	505/1494	43927611	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1514C>T	2.37:g.43927611C>T	ENSP00000282406:p.Thr505Met		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.T505M	ENST00000282406.4	37	c.1514	CCDS1812.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	8.931	0.963412	0.18583	0.0	1.16E-4	ENSG00000152527	ENST00000282406	T	0.73897	-0.79	5.57	3.54	0.40534	.	0.842078	0.10674	N	0.647158	T	0.55909	0.1950	N	0.16743	0.435	0.09310	N	1	B;D	0.58620	0.045;0.983	B;B	0.42882	0.02;0.401	T	0.38090	-0.9677	10	0.20046	T	0.44	-7.1909	6.4658	0.21981	0.0:0.678:0.0:0.322	.	505;505	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	M	505	ENSP00000282406:T505M	ENSP00000282406:T505M	T	+	2	0	PLEKHH2	43781115	0.819000	0.29175	0.790000	0.31976	0.845000	0.48019	1.523000	0.35932	1.367000	0.46095	-0.119000	0.15052	ACG	PLEKHH2	-	NULL	ENSG00000152527		0.413	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1		0	36	0	C	NM_172069		43927611	1			no_errors	ENST00000282406	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.174	T	T	43927611	C	T	43927611	3	4	141	1	0	0	0	0	1	0	0	0	12116	536	19	1	1540	1	PLEKHH2	2	43927611	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	12940458	43927611	199271762	32	35810											
NPAS2	4862	genome.wustl.edu	37	chr2	101549428	101549428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactggaagccttcattcCtcagtaatgaagaattcacc	14	10	7	10	0	3	3	3	1	0	2	4	4	4	4	3	1	1	1	3	1	5	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:101549428C>T	ENST00000335681.5	+	4	523	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.L145F	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	80					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						GCCTTCATTCCTCAGTAATGA	0.393																																																	0													96	86	90					2																	101549428		2203	4300	6503	SO:0001583	missense	0			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.238C>T	2.37:g.101549428C>T	ENSP00000338283:p.Leu80Phe		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.L145F	ENST00000335681.5	37	c.433	CCDS2048.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.002252|4.002252	0.74932|0.74932	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000451740|ENST00000448812	T;T|.	0.11277|.	2.81;2.79|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Helix-loop-helix DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81903|0.81903	0.4921|0.4921	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;P|.	0.63877|.	0.919;0.831|.	T|T	0.81750|0.81750	-0.0790|-0.0790	10|5	0.59425|.	D|.	0.04|.	.|.	19.7612|19.7612	0.96319|0.96319	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	145;80|.	F5H027;Q99743|.	.;NPAS2_HUMAN|.	F|L	80;145;66|69	ENSP00000338283:L80F;ENSP00000438428:L145F|.	ENSP00000338283:L80F|.	L|P	+|+	1|2	0|0	NPAS2|NPAS2	100915860|100915860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.376000|7.376000	0.79658|0.79658	2.646000|2.646000	0.89796|0.89796	0.655000|0.655000	0.94253|0.94253	CTC|CCT	NPAS2	-	superfamily_bHLH_dom,prints_Nuc_translocat	ENSG00000170485		0.393	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3		0	27	0	C			101549428	1			no_errors	ENST00000542504	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	T	T	101549428	C	T	101549428	3	4	141	1	0	0	0	0	1	0	0	0	10602	681	24	3	248	3	NPAS2	2	101549428	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	57621817	101549428	141649945	33	35811											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125547505	125547505	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtcatccagacagaaaggcTtcctaggatgcattcgctcc	10	9	9	13	2	1	2	1	0	0	2	5	3	4	3	3	2	1	3	3	2	2	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:125547505T>G	ENST00000431078.1	+	18	3140	c.2776T>G	c.(2776-2778)Ttc>Gtc	p.F926V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	926	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACAGAAAGGCTTCCTAGGATG	0.463																																																	0													54	52	53					2																	125547505		1979	4166	6145	SO:0001583	missense	0			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.2776T>G	2.37:g.125547505T>G	ENSP00000399013:p.Phe926Val		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F926V	ENST00000431078.1	37	c.2776	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634833	0.87760	.	.	ENSG00000155052	ENST00000431078	D	0.90732	-2.72	5.24	5.24	0.73138	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.52532	D	0.000064	D	0.97031	0.9030	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98354	1.0545	10	0.87932	D	0	.	14.602	0.68447	0.0:0.0:0.0:1.0	.	926	Q8WYK1	CNTP5_HUMAN	V	926	ENSP00000399013:F926V	ENSP00000399013:F926V	F	+	1	0	CNTNAP5	125263975	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.910000	0.87451	2.116000	0.64780	0.533000	0.62120	TTC	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.463	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3		0	31	0	T			125547505	1			no_errors	ENST00000431078	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	G	G	125547505	T	G	125547505	3	3	141	1	0	0	0	0	1	0	0	0	3657	1609	56	4	2846	4	CNTNAP5	2	125547505	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	23998077	125547505	117651868	34	35812											
NEB	4703	genome.wustl.edu	37	chr2	152392295	152392295	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactttgtcctttcaaatacTtctttatacttatactagaa	12	18	3	8	0	2	1	1	0	1	1	3	2	3	1	1	0	3	0	1	0	8	10			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:152392295T>G	ENST00000172853.10	-	114	16266	c.16119A>C	c.(16117-16119)gaA>gaC	p.E5373D	NEB_ENST00000397345.3_Missense_Mutation_p.E7074D|NEB_ENST00000604864.1_Missense_Mutation_p.E7074D|NEB_ENST00000409198.1_Missense_Mutation_p.E5373D|NEB_ENST00000603639.1_Missense_Mutation_p.E7074D|NEB_ENST00000427231.2_Missense_Mutation_p.E7074D			P20929	NEBU_HUMAN	nebulin	5373					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)		TTTCAAATACTTCTTTATACT	0.328																																																	0													71	67	68					2																	152392295		1831	4091	5922	SO:0001583	missense	0			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.16119A>C	2.37:g.152392295T>G	ENSP00000172853:p.Glu5373Asp		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.E7074D	ENST00000172853.10	37	c.21222		2	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826679	0.71143	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000420924	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	6.17	-0.511	0.11970	.	0.097576	0.64402	D	0.000002	T	0.59851	0.2224	L	0.49455	1.56	0.80722	D	1	D;P	0.61697	0.99;0.943	D;D	0.69479	0.93;0.964	T	0.54977	-0.8212	10	0.27082	T	0.32	.	12.349	0.55136	0.0:0.5177:0.0:0.4823	.	5373;1804	P20929;Q14215	NEBU_HUMAN;.	D	5373;7074;7074;1422;1804;5373;162	ENSP00000386259:E5373D;ENSP00000380505:E7074D;ENSP00000416578:E7074D;ENSP00000410961:E1804D;ENSP00000172853:E5373D;ENSP00000405167:E162D	ENSP00000172853:E5373D	E	-	3	2	NEB	152100541	0.552000	0.26505	0.997000	0.53966	0.985000	0.73830	0.009000	0.13219	-0.002000	0.14469	-0.242000	0.12053	GAA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.328	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0	30	0	T	NM_004543		152392295	-1			no_errors	ENST00000397345	ensembl	human	known	74_37	missense	44.12	19	15	SNP	0.979	G	G	152392295	T	G	152392295	3	3	141	1	0	0	0	0	1	0	0	0	10341	1606	56	4	4628	4	NEB	2	152392295	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	26844790	152392295	90807078	35	35813											
LRP2	4036	genome.wustl.edu	37	chr2	170115563	170115563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgaactaccaccgaccGtgggttatttaaatactgaa	14	10	9	8	2	0	2	0	2	0	0	0	4	0	3	3	2	3	1	3	2	7	5	rs368619363		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:170115563G>A	ENST00000263816.3	-	17	2770	c.2485C>T	c.(2485-2487)Cgg>Tgg	p.R829W	LRP2_ENST00000443831.1_Missense_Mutation_p.R692W	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	829					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)"	ACCACCGACCGTGGGTTATTT	0.403																																																	0								G	TRP/ARG	0,4406		0,0,2203	136	133	134		2485	3.9	0.2	2		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	829/4656	170115563	1,13005	2203	4300	6503	SO:0001583	missense	0				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.2485C>T	2.37:g.170115563G>A	ENSP00000263816:p.Arg829Trp		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R829W	ENST00000263816.3	37	c.2485	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281559	0.40394	0.0	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.96774	-3.29;-4.12	5.77	3.9	0.45041	Six-bladed beta-propeller, TolB-like (1);	0.058311	0.64402	D	0.000002	D	0.98438	0.9480	M	0.92833	3.35	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.915	D	0.98911	1.0780	10	0.87932	D	0	.	14.7946	0.69868	0.0:0.0:0.7363:0.2637	.	692;829	E9PC35;P98164	.;LRP2_HUMAN	W	829;692	ENSP00000263816:R829W;ENSP00000409813:R692W	ENSP00000263816:R829W	R	-	1	2	LRP2	169823809	1.000000	0.71417	0.232000	0.24009	0.017000	0.09413	2.134000	0.42102	0.710000	0.31997	0.591000	0.81541	CGG	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0	36	0	G	NM_004525		170115563	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.983	A	A	170115563	G	A	170115563	3	1	141	1	0	0	0	0	1	0	0	0	8991	1144	40	1	11734	1	LRP2	2	170115563	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	17723268	170115563	73083810	36	35814											
BBS5	129880	genome.wustl.edu	37	chr2	170361081	170361081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctacagggactttgggaaGtaatgagttgattgaccttg	10	12	12	7	0	0	3	0	3	0	0	0	5	0	5	2	2	1	2	2	2	3	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:170361081G>C	ENST00000295240.3	+	12	1391	c.1015G>C	c.(1015-1017)Gta>Cta	p.V339L	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000392663.2_Missense_Mutation_p.V318L|BBS5_ENST00000554017.1_Intron	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	339					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						ACTTTGGGAAGTAATGAGTTG	0.373									Bardet-Biedl syndrome																																								0													75	76	75					2																	170361081		2203	4300	6503	SO:0001583	missense	0	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.1015G>C	2.37:g.170361081G>C	ENSP00000295240:p.Val339Leu		D3DPC3|Q6PKN0	Missense_Mutation	SNP	pfam_BBL5,smart_DM16_repeat,pirsf_BBL5	p.V339L	ENST00000295240.3	37	c.1015	CCDS2233.1	2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869282	0.91587	.	.	ENSG00000163093	ENST00000295240;ENST00000392663	T;D	0.83250	-1.04;-1.7	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	L	0.35854	1.095	0.80722	D	1	P;D	0.53745	0.952;0.962	P;P	0.49451	0.476;0.611	T	0.81790	-0.0771	10	0.37606	T	0.19	.	18.9464	0.92623	0.0:0.0:1.0:0.0	.	318;339	Q8N3I7-2;Q8N3I7	.;BBS5_HUMAN	L	339;318	ENSP00000295240:V339L;ENSP00000376431:V318L	ENSP00000295240:V339L	V	+	1	0	BBS5	170069327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.547000	0.85894	0.655000	0.94253	GTA	BBS5	-	pfam_BBL5,pirsf_BBL5	ENSG00000163093		0.373	BBS5-001	KNOWN	basic|CCDS	protein_coding	BBS5	HGNC	protein_coding	OTTHUMT00000255265.2		0	74	0	G	NM_152384		170361081	1			no_errors	ENST00000295240	ensembl	human	known	74_37	missense	36.62	45	26	SNP	1.000	C	C	170361081	G	C	170361081	3	2	141	1	0	0	0	0	1	0	0	0	1341	1029	36	5	1061	5	BBS5	2	170361081	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	245518	170361081	72838292	37	35815											
SP3	6670	genome.wustl.edu	37	chr2	174820856	174820856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagtagcagcacttggaatCtggactagattaccagcttc	12	10	10	9	0	1	1	0	0	1	1	2	4	1	3	1	2	4	4	1	2	5	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:174820856C>G	ENST00000310015.6	-	4	914	c.384G>C	c.(382-384)caG>caC	p.Q128H	SP3_ENST00000483084.1_5'UTR|SP3_ENST00000455789.2_Missense_Mutation_p.Q75H|SP3_ENST00000418194.2_Missense_Mutation_p.Q60H	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	128					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)			CACTTGGAATCTGGACTAGAT	0.438																																																	0													144	129	134					2																	174820856		2203	4300	6503	SO:0001583	missense	0			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.384G>C	2.37:g.174820856C>G	ENSP00000310301:p.Gln128His		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q128H	ENST00000310015.6	37	c.384	CCDS2254.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.633|8.633	0.894218|0.894218	0.17613|0.17613	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194|ENST00000416195	T;T;T|.	0.05925|.	3.37;3.49;3.5|.	5.95|5.95	3.83|3.83	0.44106|0.44106	.|.	0.050129|.	0.85682|.	D|.	0.000000|.	T|T	0.62974|0.62974	0.2472|0.2472	L|L	0.55481|0.55481	1.735|1.735	0.43084|0.43084	D|D	0.994745|0.994745	B;B;B|.	0.28082|.	0.126;0.073;0.2|.	B;B;B|.	0.24155|.	0.023;0.008;0.051|.	T|T	0.62784|0.62784	-0.6781|-0.6781	10|5	0.33141|.	T|.	0.24|.	.|.	13.6628|13.6628	0.62376|0.62376	0.0:0.8542:0.0:0.1458|0.0:0.8542:0.0:0.1458	.|.	125;128;75|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	H|T	128;75;60|85	ENSP00000310301:Q128H;ENSP00000388903:Q75H;ENSP00000406140:Q60H|.	ENSP00000310301:Q128H|.	Q|R	-|-	3|2	2|0	SP3|SP3	174529102|174529102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.907000|1.907000	0.39897|0.39897	1.509000|1.509000	0.48786|0.48786	0.563000|0.563000	0.77884|0.77884	CAG|AGA	SP3	-	superfamily_Galactose-bd-like	ENSG00000172845		0.438	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1		0	71	0	C	NM_003111		174820856	-1			no_errors	ENST00000310015	ensembl	human	known	74_37	missense	22.22	49	14	SNP	1.000	G	G	174820856	C	G	174820856	3	3	141	1	0	0	0	0	1	0	0	0	15010	912	32	5	1977	5	SP3	2	174820856	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	4459775	174820856	68378517	38	35816											
EVX2	344191	genome.wustl.edu	37	chr2	176948260	176948260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggtgctttcgctgcccGtgtgctgcaggttgaacaaa	8	10	13	10	3	0	2	0	1	0	1	1	2	0	2	1	2	5	5	1	2	2	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:176948260G>A	ENST00000308618.4	-	1	381	c.245C>T	c.(244-246)aCg>aTg	p.T82M		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	82					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TTCGCTGCCCGTGTGCTGCAG	0.632																																																	0													63	71	68					2																	176948260		2203	4300	6503	SO:0001583	missense	0				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.245C>T	2.37:g.176948260G>A	ENSP00000312385:p.Thr82Met			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa	p.T82M	ENST00000308618.4	37	c.245	CCDS33333.1	2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122388	0.37436	.	.	ENSG00000174279	ENST00000308618	D	0.91351	-2.83	5.84	4.93	0.64822	.	0.521924	0.21097	N	0.080225	T	0.81522	0.4840	N	0.08118	0	0.28186	N	0.927971	B	0.30870	0.298	B	0.26517	0.07	T	0.77744	-0.2473	10	0.66056	D	0.02	-19.279	16.3287	0.82997	0.0:0.0:0.8673:0.1327	.	82	Q03828	EVX2_HUMAN	M	82	ENSP00000312385:T82M	ENSP00000312385:T82M	T	-	2	0	EVX2	176656506	0.997000	0.39634	0.998000	0.56505	0.907000	0.53573	2.478000	0.45189	2.768000	0.95171	0.561000	0.74099	ACG	EVX2	-	NULL	ENSG00000174279		0.632	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	HGNC	protein_coding	OTTHUMT00000359252.1		0	69	0	G			176948260	-1			no_errors	ENST00000308618	ensembl	human	known	74_37	missense	21.05	45	12	SNP	0.999	A	A	176948260	G	A	176948260	3	1	141	1	0	0	0	0	1	0	0	0	5311	1145	40	1	1195	1	EVX2	2	176948260	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	2127404	176948260	66251113	39	35817											
TTN	7273	genome.wustl.edu	37	chr2	179605401	179605401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttctatggacatggcacTtgggaagattttctcggtat	8	16	11	6	1	2	1	0	0	2	1	3	3	2	3	0	4	0	3	0	4	3	7			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:179605401T>C	ENST00000591111.1	-	46	11832	c.11608A>G	c.(11608-11610)Agt>Ggt	p.S3870G	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S3824G|TTN_ENST00000359218.5_Missense_Mutation_p.S3949G|TTN_ENST00000342175.6_Missense_Mutation_p.S4016G|TTN_ENST00000589042.1_Missense_Mutation_p.S4187G|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACATGGCACTTGGGAAGATT	0.403																																																	0													80	78	78					2																	179605401		1853	4098	5951	SO:0001583	missense	0			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.11608A>G	2.37:g.179605401T>C	ENSP00000465570:p.Ser3870Gly		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S4016G	ENST00000591111.1	37	c.12046		2	.	.	.	.	.	.	.	.	.	.	T	4.460	0.085300	0.08583	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.60171	0.24;0.21;0.21	5.51	1.47	0.22746	.	.	.	.	.	T	0.33760	0.0874	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25847	-1.0120	9	0.87932	D	0	.	5.9324	0.19146	0.0:0.273:0.2435:0.4835	.	3824;3949;4016	D3DPF9;E7EQE6;E7ET18	.;.;.	G	3824;4016;3949;3824	ENSP00000434586:S3824G;ENSP00000340554:S4016G;ENSP00000352154:S3949G	ENSP00000340554:S4016G	S	-	1	0	TTN	179313646	0.340000	0.24792	0.465000	0.27155	0.218000	0.24690	1.317000	0.33631	0.403000	0.25479	0.533000	0.62120	AGT	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	44	0	T	NM_133378		179605401	-1			no_errors	ENST00000342175	ensembl	human	known	74_37	missense	22.64	41	12	SNP	0.014	C	C	179605401	T	C	179605401	3	2	141	1	0	0	0	0	1	0	0	0	16784	1609	56	4	92230	4	TTN	2	179605401	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	2657141	179605401	63593972	40	35818											
COL3A1	1281	genome.wustl.edu	37	chr2	189864069	189864069	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggcaggggccccaggacTtagaggtggagctggtcccc	7	7	16	11	0	0	1	0	0	0	1	1	3	1	3	4	7	1	2	4	7	1	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:189864069T>C	ENST00000304636.3	+	30	2251	c.2081T>C	c.(2080-2082)cTt>cCt	p.L694P	COL3A1_ENST00000317840.5_Missense_Mutation_p.L694P	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	694	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)	GCCCCAGGACTTAGAGGTGGA	0.488																																																	0													30	33	32					2																	189864069		2202	4298	6500	SO:0001583	missense	0			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.2081T>C	2.37:g.189864069T>C	ENSP00000304408:p.Leu694Pro		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.L694P	ENST00000304636.3	37	c.2081	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	T	10.35	1.325064	0.24080	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93426	-3.19;-3.22	4.96	-1.7	0.08159	.	2.120730	0.03067	N	0.156624	D	0.84624	0.5513	N	0.05259	-0.085	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.72953	-0.4135	10	0.16896	T	0.51	.	11.7991	0.52116	0.0:0.7176:0.0:0.2824	.	694	P02461	CO3A1_HUMAN	P	694	ENSP00000304408:L694P;ENSP00000315243:L694P	ENSP00000304408:L694P	L	+	2	0	COL3A1	189572314	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	0.940000	0.28992	-0.424000	0.07382	0.528000	0.53228	CTT	COL3A1	-	NULL	ENSG00000168542		0.488	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3		0	55	0	T	NM_000090		189864069	1			no_errors	ENST00000304636	ensembl	human	known	74_37	missense	23.91	35	11	SNP	0.000	C	C	189864069	T	C	189864069	3	2	141	1	0	0	0	0	1	0	0	0	3695	1609	56	4	2199	4	COL3A1	2	189864069	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	10258668	189864069	53335304	41	35819											
PTPRN	5798	genome.wustl.edu	37	chr2	220162692	220162692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgccgcgcatgctgcCgcacacacagagccacagcc	8	5	10	18	3	0	1	0	0	0	1	0	1	0	1	4	0	6	4	4	0	0	1	rs369674897		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:220162692C>T	ENST00000295718.2	-	13	2042	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	PTPRN_ENST00000409251.3_Missense_Mutation_p.R572Q|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000423636.2_Missense_Mutation_p.R511Q|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	601					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)	p.R601Q(1)		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)		CGCATGCTGCCGCACACACAG	0.667																																																	1	Substitution - Missense(1)	lung(1)						C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	37	37	37		1715,1532,1802	4.8	1	2		37	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	PTPRN	NM_001199763.1,NM_001199764.1,NM_002846.3	43,43,43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	572/951,511/890,601/980	220162692	1,13003	2203	4299	6502	SO:0001583	missense	0				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.1802G>A	2.37:g.220162692C>T	ENSP00000295718:p.Arg601Gln		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R601Q	ENST00000295718.2	37	c.1802	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.605805	0.96626	0.0	1.16E-4	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.05996	3.67;3.37;3.36	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000002	T	0.27098	0.0664	M	0.78049	2.395	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.76071	0.978;0.987	T	0.02053	-1.1222	10	0.87932	D	0	.	17.5894	0.87991	0.0:1.0:0.0:0.0	.	572;601	Q6NSL1;Q16849	.;PTPRN_HUMAN	Q	572;601;572;511	ENSP00000386638:R572Q;ENSP00000295718:R601Q;ENSP00000444244:R511Q	ENSP00000295718:R601Q	R	-	2	0	PTPRN	219870936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.906000	0.56340	2.468000	0.83385	0.655000	0.94253	CGG	PTPRN	-	NULL	ENSG00000054356		0.667	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2		0	41	0	C			220162692	-1			no_errors	ENST00000295718	ensembl	human	known	74_37	missense	13.56	51	8	SNP	1.000	T	T	220162692	C	T	220162692	3	4	141	1	0	0	0	0	1	0	0	0	12852	652	23	1	1181	1	PTPRN	2	220162692	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	30298623	220162692	23036681	42	35820											
TM4SF20	79853	genome.wustl.edu	37	chr2	228243936	228243936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactcctaacagcagtagaaCcagcaggctgaatccattgc	13	8	8	12	0	0	2	0	1	0	1	2	2	2	2	3	1	6	4	3	1	5	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:228243936C>A	ENST00000304568.3	-	1	86	c.49G>T	c.(49-51)Gtt>Ttt	p.V17F		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AGCAGTAGAACCAGCAGGCTG	0.473																																																	0													124	122	122					2																	228243936		2203	4300	6503	SO:0001583	missense	0			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.49G>T	2.37:g.228243936C>A	ENSP00000303028:p.Val17Phe		B2RP42|Q5U609|Q6UWS1|Q9H5X9	Missense_Mutation	SNP	pfam_L6_membrane	p.V17F	ENST00000304568.3	37	c.49	CCDS2466.1	2	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368602	0.42003	.	.	ENSG00000168955	ENST00000304568	T	0.31510	1.49	5.77	-0.414	0.12359	.	0.752361	0.12105	N	0.499152	T	0.29061	0.0722	M	0.72118	2.19	0.26977	N	0.965442	B	0.32653	0.379	B	0.33690	0.168	T	0.26538	-1.0100	10	0.56958	D	0.05	-5.1762	4.8059	0.13319	0.1515:0.3479:0.0:0.5005	.	17	Q53R12	T4S20_HUMAN	F	17	ENSP00000303028:V17F	ENSP00000303028:V17F	V	-	1	0	TM4SF20	227952180	0.013000	0.17824	0.339000	0.25562	0.021000	0.10359	-1.767000	0.01795	-0.143000	0.11334	0.591000	0.81541	GTT	TM4SF20	-	pfam_L6_membrane	ENSG00000168955		0.473	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF20	HGNC	protein_coding	OTTHUMT00000256896.2		0	51	0	C	NM_024795		228243936	-1			no_errors	ENST00000304568	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.657	A	A	228243936	C	A	228243936	3	1	141	1	0	0	0	0	1	0	0	0	16016	507	18	3	656	3	TM4SF20	2	228243936	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	8081244	228243936	14955437	43	35821											
CHL1	10752	genome.wustl.edu	37	chr3	386284	386284	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgtagcaaattccatcaAgcaaagaaaacccaaactgc	17	9	5	10	0	1	1	1	0	0	1	2	1	2	1	2	0	5	3	2	0	7	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:386284A>C	ENST00000256509.2	+	9	1382	c.740A>C	c.(739-741)aAg>aCg	p.K247T	CHL1_ENST00000397491.2_Missense_Mutation_p.K231T	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	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)			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)		AATTCCATCAAGCAAAGAAAA	0.353																																																	0													94	90	91					3																	386284		2203	4300	6503	SO:0001583	missense	0			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.740A>C	3.37:g.386284A>C	ENSP00000256509:p.Lys247Thr		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K247T	ENST00000256509.2	37	c.740	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144116	0.37825	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.60424	0.19;0.21	5.51	5.51	0.81932	.	0.136206	0.52532	D	0.000068	T	0.64114	0.2569	L	0.39020	1.185	0.40258	D	0.978143	B;B;D	0.67145	0.323;0.323;0.996	B;B;D	0.69142	0.061;0.061;0.962	T	0.60286	-0.7293	10	0.19147	T	0.46	.	14.1841	0.65592	1.0:0.0:0.0:0.0	.	231;231;247	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	T	247;231	ENSP00000256509:K247T;ENSP00000380628:K231T	ENSP00000256509:K247T	K	+	2	0	CHL1	361284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.589000	0.61006	2.078000	0.62432	0.528000	0.53228	AAG	CHL1	-	NULL	ENSG00000134121		0.353	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2		0	54	0	A	NM_006614		386284	1			no_errors	ENST00000256509	ensembl	human	known	74_37	missense	40.35	34	23	SNP	1.000	C	C	386284	A	C	386284	3	2	141	1	0	0	0	0	1	0	0	0	3356	72	3	4	766	4	CHL1	3	386284	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09		386284	197636146	44	35822											
SCN5A	6331	genome.wustl.edu	37	chr3	38651390	38651390	+	Missense_Mutation	SNP	T	T	G	0	1	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	gacgctgaggcagaagactgTgaggaccatcacatcagcca	13	5	12	11	1	2	4	2	2	0	2	2	6	2	5	2	2	1	2	2	2	1	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:38651390T>G	ENST00000333535.4	-	7	918	c.769A>C	c.(769-771)Aca>Cca	p.T257P	SCN5A_ENST00000449557.2_Missense_Mutation_p.T257P|SCN5A_ENST00000451551.2_Missense_Mutation_p.T257P|SCN5A_ENST00000413689.1_Missense_Mutation_p.T257P|SCN5A_ENST00000423572.2_Missense_Mutation_p.T257P|SCN5A_ENST00000455624.2_Missense_Mutation_p.T257P|SCN5A_ENST00000414099.2_Missense_Mutation_p.T257P|SCN5A_ENST00000443581.1_Missense_Mutation_p.T257P|SCN5A_ENST00000425664.1_Missense_Mutation_p.T257P|SCN5A_ENST00000450102.2_Missense_Mutation_p.T257P			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	257					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGAAGACTGTGAGGACCATC	0.592																																																	0													88	95	93					3																	38651390		2191	4290	6481	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.769A>C	3.37:g.38651390T>G	ENSP00000328968:p.Thr257Pro		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.T257P	ENST00000333535.4	37	c.769	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	T	26.7	4.763785	0.89932	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000399254	D;D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	5.34	5.34	0.76211	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	H	0.96996	3.92	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.998;0.999;0.999;0.999;0.998	D	0.98312	1.0524	10	0.87932	D	0	.	15.4877	0.75578	0.0:0.0:0.0:1.0	.	257;257;257;257;257;257;257	E9PEF3;Q14524-3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	P	257;257;257;257;257;257;257;257;257;257;67	ENSP00000398962:T257P;ENSP00000398266:T257P;ENSP00000410257:T257P;ENSP00000388797:T257P;ENSP00000397915:T257P;ENSP00000416634:T257P;ENSP00000328968:T257P;ENSP00000399524:T257P;ENSP00000403355:T257P;ENSP00000413996:T257P	ENSP00000328968:T257P	T	-	1	0	SCN5A	38626394	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.868000	0.87116	2.248000	0.74166	0.533000	0.62120	ACA	SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1		0	25	0	T	NM_198056		38651390	-1			no_errors	ENST00000333535	ensembl	human	known	74_37	missense	31.43	24	11	SNP	1.000	G	G	38651390	T	G	38651390	3	3	141	1	0	0	0	0	1	0	0	0	13967	1696	59	4	5369	4	SCN5A	3	38651390	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	38265106	38651390	159371040	45	35823											
ACTR8	93973	genome.wustl.edu	37	chr3	53910032	53910032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atacacttgtcttctggtccCcaacgtctacaatacacgtg	10	12	6	13	2	3	0	0	0	3	0	4	0	4	0	2	1	4	0	2	1	5	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:53910032C>T	ENST00000335754.3	-	7	954	c.854G>A	c.(853-855)gGg>gAg	p.G285E	ACTR8_ENST00000482349.1_Missense_Mutation_p.G174E|ACTR8_ENST00000231909.7_Missense_Mutation_p.G35E	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	285					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)		CTTCTGGTCCCCAACGTCTAC	0.522																																																	0													163	145	151					3																	53910032		2203	4300	6503	SO:0001583	missense	0				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.854G>A	3.37:g.53910032C>T	ENSP00000336842:p.Gly285Glu		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.G285E	ENST00000335754.3	37	c.854	CCDS2875.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.201043|5.201043	0.94997|0.94997	.|.	.|.	ENSG00000113812|ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909|ENST00000486794	D;D;D|D	0.99887|0.99888	-5.15;-5.15;-7.53|-7.54	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99902|0.99902	0.9953|0.9953	M|M	0.89904|0.89904	3.07|3.07	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	0.96713|0.96713	0.9527|0.9527	10|8	0.87932|0.87932	D|D	0|0	5.7132|5.7132	18.7629|18.7629	0.91860|0.91860	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	285;35|.	Q9H981;Q9H981-3|.	ARP8_HUMAN;.|.	E|R	285;174;35|84	ENSP00000336842:G285E;ENSP00000419429:G174E;ENSP00000231909:G35E|ENSP00000417230:G84R	ENSP00000231909:G35E|ENSP00000417230:G84R	G|G	-|-	2|1	0|0	ACTR8|ACTR8	53885072|53885072	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	7.776000|7.776000	0.85560|0.85560	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|GGG	ACTR8	-	pfam_Actin-related,smart_Actin-related	ENSG00000113812		0.522	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR8	HGNC	protein_coding	OTTHUMT00000350562.2		0	39	0	C	NM_022899		53910032	-1			no_errors	ENST00000335754	ensembl	human	known	74_37	missense	27.27	40	15	SNP	1.000	T	T	53910032	C	T	53910032	3	4	141	1	0	0	0	0	1	0	0	0	217	623	22	3	1048	3	ACTR8	3	53910032	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	15258642	53910032	144112398	46	35824											
PRICKLE2	166336	genome.wustl.edu	37	chr3	64132935	64132935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagagggctctgggtctGgttctgctccatcttgttcc	3	14	12	12	0	4	1	0	0	4	1	6	1	6	1	2	3	2	5	2	3	0	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:64132935G>T	ENST00000295902.6	-	7	1816	c.1231C>A	c.(1231-1233)Cag>Aag	p.Q411K	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Q467K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	411					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCTGGGTCTGGTTCTGCTCC	0.612																																																	0													80	83	82					3																	64132935		2203	4300	6503	SO:0001583	missense	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1231C>A	3.37:g.64132935G>T	ENSP00000295902:p.Gln411Lys		Q0VF44	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q411K	ENST00000295902.6	37	c.1231	CCDS2902.1	3	.	.	.	.	.	.	.	.	.	.	G	8.747	0.920284	0.17982	.	.	ENSG00000163637	ENST00000295902	T	0.58060	0.36	5.74	5.74	0.90152	.	0.081503	0.51477	D	0.000081	T	0.47284	0.1437	L	0.36672	1.1	0.45541	D	0.998496	B	0.20368	0.044	B	0.19148	0.024	T	0.27297	-1.0078	10	0.32370	T	0.25	-35.5961	19.9204	0.97084	0.0:0.0:1.0:0.0	.	411	Q7Z3G6	PRIC2_HUMAN	K	411	ENSP00000295902:Q411K	ENSP00000295902:Q411K	Q	-	1	0	PRICKLE2	64107975	0.996000	0.38824	1.000000	0.80357	0.626000	0.37791	4.098000	0.57748	2.721000	0.93114	0.491000	0.48974	CAG	PRICKLE2	-	NULL	ENSG00000163637		0.612	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	HGNC	protein_coding	OTTHUMT00000352219.1		0	53	0	G	NM_198859		64132935	-1			no_errors	ENST00000295902	ensembl	human	known	74_37	missense	6.35	58	4	SNP	0.996	T	T	64132935	G	T	64132935	3	4	141	1	0	0	0	0	1	0	0	0	12529	1357	47	3	1311	3	PRICKLE2	3	64132935	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	10222903	64132935	133889495	47	35825											
FOXP1	27086	genome.wustl.edu	37	chr3	71247109	71247109	+	Intron	SNP	A	A	C	1	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	ccactcatcttcgtctcagcAactgctccccacaaggggac	9	8	7	17	1	3	0	2	0	2	0	6	1	4	1	3	2	3	2	3	2	2	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:71247109A>C	ENST00000318789.4	-	6	706				FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000318779.3_Silent_p.V97V	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCGTCTCAGCAACTGCTCCCC	0.478			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													70	73	72					3																	71247109		2203	4300	6503	SO:0001627	intron_variant	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.180+243T>G	3.37:g.71247109A>C			A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	NULL	p.V97	ENST00000318789.4	37	c.291	CCDS2914.1	3																																																																																			FOXP1	-	NULL	ENSG00000114861		0.478	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1		0	45	0	A	NM_032682		71247109	-1			no_errors	ENST00000318779	ensembl	human	putative	74_37	silent	30.19	74	32	SNP	0.000	C	C	71247109	A	C	71247109	1	2	141	0	1	0	0	0	0	0	0	0	6050	117	5	4		4	FOXP1	3	71247109	Intron	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	7114174	71247109	126775321	48	35826											
FOXP1	27086	genome.wustl.edu	37	chr3	71247201	71247201	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggactcctagagggctGatggtttatgagatgccact	8	11	14	8	0	0	3	0	2	0	2	1	5	1	4	2	3	1	3	2	3	2	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:71247201G>T	ENST00000318789.4	-	6	706				FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000318779.3_Missense_Mutation_p.Q67K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTAGAGGGCTGATGGTTTATG	0.493			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													54	55	54					3																	71247201		2203	4300	6503	SO:0001627	intron_variant	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.180+151C>A	3.37:g.71247201G>T			A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	NULL	p.Q67K	ENST00000318789.4	37	c.199	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	G	6.431	0.447589	0.12223	.	.	ENSG00000114861	ENST00000318779	T	0.44083	0.93	3.28	1.35	0.21983	.	.	.	.	.	T	0.29028	0.0721	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.25293	-1.0136	8	0.56958	D	0.05	.	5.1328	0.14919	0.2998:0.0:0.7002:0.0	.	67	Q9BSG9	.	K	67	ENSP00000318721:Q67K	ENSP00000318721:Q67K	Q	-	1	0	FOXP1	71329891	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.095000	0.15127	0.339000	0.23719	0.591000	0.81541	CAG	FOXP1	-	NULL	ENSG00000114861		0.493	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1		0	31	0	G	NM_032682		71247201	-1			no_errors	ENST00000318779	ensembl	human	putative	74_37	missense	7.32	76	6	SNP	0.000	T	T	71247201	G	T	71247201	1	4	141	0	1	0	0	0	0	0	0	0	6050	1299	45	3		3	FOXP1	3	71247201	Intron	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	92	71247201	126775229	49	35827											
NSUN3	63899	genome.wustl.edu	37	chr3	93813066	93813066	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttcatcccacagcctttGataaatgtaattaaagtgtc	12	15	5	9	0	2	1	1	1	1	0	4	1	3	1	2	0	1	1	2	0	5	5	rs147353366		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:93813066G>C	ENST00000314622.4	+	4	760	c.549G>C	c.(547-549)ttG>ttC	p.L183F		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	183							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CACAGCCTTTGATAAATGTAA	0.358																																																	0													77	74	75					3																	93813066		2203	4300	6503	SO:0001583	missense	0			BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"NOP2/Sun domain containing"	26208	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 3", "NOL1/NOP2/Sun domain family, member 3"			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.549G>C	3.37:g.93813066G>C	ENSP00000318986:p.Leu183Phe		Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.L183F	ENST00000314622.4	37	c.549	CCDS2927.1	3	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523007	0.64747	.	.	ENSG00000178694	ENST00000314622	T	0.13196	2.61	5.98	5.98	0.97165	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.392082	0.25490	N	0.030319	T	0.19644	0.0472	L	0.49571	1.57	0.09310	N	0.999998	P	0.47841	0.901	P	0.53062	0.717	T	0.13656	-1.0501	10	0.09843	T	0.71	-4.9093	10.3233	0.43780	0.0686:0.0:0.7968:0.1346	.	183	Q9H649	NSUN3_HUMAN	F	183	ENSP00000318986:L183F	ENSP00000318986:L183F	L	+	3	2	NSUN3	95295756	0.758000	0.28405	0.998000	0.56505	0.984000	0.73092	1.034000	0.30204	2.835000	0.97688	0.650000	0.86243	TTG	NSUN3	-	pfam_Fmu/NOL1/Nop2p	ENSG00000178694		0.358	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN3	HGNC	protein_coding	OTTHUMT00000352934.1		0	47	0	G	NM_022072		93813066	1			no_errors	ENST00000314622	ensembl	human	known	74_37	missense	15.22	39	7	SNP	0.014	C	C	93813066	G	C	93813066	3	2	141	1	0	0	0	0	1	0	0	0	10718	1281	45	5	563	5	NSUN3	3	93813066	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	22565865	93813066	104209364	50	35828											
EPHA6	285220	genome.wustl.edu	37	chr3	97124070	97124070	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatcatggcaagcacctgcTttttccaatggagccattct	9	13	7	12	0	2	0	1	0	1	0	3	1	3	1	3	2	3	3	3	2	3	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:97124070T>C	ENST00000389672.5	+	6	1721	c.1683T>C	c.(1681-1683)gcT>gcC	p.A561A		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	467						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						AAGCACCTGCTTTTTCCAATG	0.403																																																	0													62	60	60					3																	97124070		1849	4089	5938	SO:0001819	synonymous_variant	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1683T>C	3.37:g.97124070T>C			D6RAL5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A561	ENST00000389672.5	37	c.1683	CCDS46876.1	3																																																																																			EPHA6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080224		0.403	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000353845.3		0	62	0	T	NM_001080448		97124070	1			no_errors	ENST00000389672	ensembl	human	known	74_37	silent	17.02	39	8	SNP	0.997	C	C	97124070	T	C	97124070	2	2	141	1	0	0	0	0	0	0	0	1	5187	1596	56	4		4	EPHA6	3	97124070	Silent	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	3311004	97124070	100898360	51	35829											
CCDC80	151887	genome.wustl.edu	37	chr3	112337841	112337841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcagatccacatctgttaGcaccatgaagaagtcattgt	12	12	7	10	0	3	3	2	1	2	2	5	3	4	3	2	0	1	2	2	0	3	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:112337841G>T	ENST00000206423.3	-	4	3099	c.2146C>A	c.(2146-2148)Cta>Ata	p.L716I	CCDC80_ENST00000439685.2_Missense_Mutation_p.L716I	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	716					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						ACATCTGTTAGCACCATGAAG	0.413																																																	0													155	139	144					3																	112337841		2203	4300	6503	SO:0001583	missense	0			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.2146C>A	3.37:g.112337841G>T	ENSP00000206423:p.Leu716Ile		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	NULL	p.L716I	ENST00000206423.3	37	c.2146	CCDS2968.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.264166|4.264166	0.80358|0.80358	.|.	.|.	ENSG00000091986|ENSG00000091986	ENST00000461431|ENST00000206423;ENST00000439685;ENST00000444594	.|T;T	.|0.72942	.|-0.7;-0.7	5.73|5.73	3.87|3.87	0.44632|0.44632	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82375|0.82375	0.5023|0.5023	M|M	0.79475|0.79475	2.455|2.455	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.62365	.|0.989;0.991;0.991	.|D;D;D	.|0.73708	.|0.968;0.981;0.981	T|T	0.83257|0.83257	-0.0050|-0.0050	5|10	.|0.72032	.|D	.|0.01	-20.7055|-20.7055	11.5621|11.5621	0.50782|0.50782	0.151:0.0:0.849:0.0|0.151:0.0:0.849:0.0	.|.	.|727;716;716	.|Q76M96-2;A3KC71;Q76M96	.|.;.;CCD80_HUMAN	D|I	113|716;716;344	.|ENSP00000206423:L716I;ENSP00000411814:L716I	.|ENSP00000206423:L716I	A|L	-|-	2|1	0|2	CCDC80|CCDC80	113820531|113820531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.185000|3.185000	0.50934|0.50934	0.824000|0.824000	0.34613|0.34613	0.650000|0.650000	0.86243|0.86243	GCT|CTA	CCDC80	-	NULL	ENSG00000091986		0.413	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1		0	21	0	G	NM_199511		112337841	-1			no_errors	ENST00000206423	ensembl	human	known	74_37	missense	28.26	33	13	SNP	1.000	T	T	112337841	G	T	112337841	3	4	141	1	0	0	0	0	1	0	0	0	2861	962	34	3	726	3	CCDC80	3	112337841	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	15213771	112337841	85684589	52	35830											
ZIC1	7545	genome.wustl.edu	37	chr3	147128873	147128873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tttaaagatccacaaaaggaCgcacacaggtacggaaacag	18	5	9	9	2	0	1	0	0	0	1	1	3	1	3	1	3	2	2	1	3	6	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:147128873C>T	ENST00000282928.4	+	1	1703	c.974C>T	c.(973-975)aCg>aTg	p.T325M		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	325					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						CACAAAAGGACGCACACAGGT	0.602																																																	0													42	44	43					3																	147128873		2203	4300	6503	SO:0001583	missense	0			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.974C>T	3.37:g.147128873C>T	ENSP00000282928:p.Thr325Met		Q2M3N1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T325M	ENST00000282928.4	37	c.974	CCDS3136.1	3	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777675	0.70107	.	.	ENSG00000152977	ENST00000282928	T	0.20332	2.08	3.89	3.89	0.44902	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	0.46946	0.1419	M	0.74389	2.26	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.55522	-0.8128	10	0.87932	D	0	.	16.2006	0.82071	0.0:1.0:0.0:0.0	.	325	Q15915	ZIC1_HUMAN	M	325	ENSP00000282928:T325M	ENSP00000282928:T325M	T	+	2	0	ZIC1	148611563	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.544000	0.82117	1.862000	0.54008	0.561000	0.74099	ACG	ZIC1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152977		0.602	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1		0	33	0	C	NM_003412		147128873	1			no_errors	ENST00000282928	ensembl	human	known	74_37	missense	33.33	30	15	SNP	1.000	T	T	147128873	C	T	147128873	3	4	141	1	0	0	0	0	1	0	0	0	17726	536	19	1	976	1	ZIC1	3	147128873	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	34791032	147128873	50893557	53	35831											
MED12L	116931	genome.wustl.edu	37	chr3	151087236	151087236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtaggcaaacctttccCtggaataagatcatcttgtg	10	15	8	8	0	2	1	1	0	1	1	3	2	3	2	2	2	1	2	2	2	4	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:151087236C>A	ENST00000474524.1	+	24	3496	c.3458C>A	c.(3457-3459)cCt>cAt	p.P1153H	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.P1013H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1153						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)			AAACCTTTCCCTGGAATAAGA	0.373																																																	0													127	130	129					3																	151087236		2203	4300	6503	SO:0001583	missense	0			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.3458C>A	3.37:g.151087236C>A	ENSP00000417235:p.Pro1153His		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.P1153H	ENST00000474524.1	37	c.3458	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288590	0.59976	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.28895	1.59;1.59	5.8	5.8	0.92144	.	0.121598	0.64402	D	0.000020	T	0.28830	0.0715	L	0.44542	1.39	0.80722	D	1	B;D;P	0.54964	0.05;0.969;0.947	B;B;B	0.43916	0.022;0.417;0.436	T	0.03364	-1.1044	10	0.66056	D	0.02	-22.9501	10.1769	0.42943	0.0:0.852:0.0:0.148	.	1013;1152;1153	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	H	1153;1013	ENSP00000417235:P1153H;ENSP00000273432:P1013H	ENSP00000273432:P1013H	P	+	2	0	MED12L	152569926	0.991000	0.36638	0.966000	0.40874	0.847000	0.48162	3.242000	0.51384	2.741000	0.93983	0.585000	0.79938	CCT	MED12L	-	NULL	ENSG00000144893		0.373	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2		0	90	0	C	NM_053002		151087236	1			no_errors	ENST00000474524	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.977	A	A	151087236	C	A	151087236	3	1	141	1	0	0	0	0	1	0	0	0	9467	681	24	3	3552	3	MED12L	3	151087236	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	3958363	151087236	46935194	54	35832											
PTX3	5806	genome.wustl.edu	37	chr3	157160233	157160233	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagtgagaccaatgaggcTtgagtcttttagtgcctgca	9	12	11	9	0	1	3	0	3	1	1	2	4	2	3	3	1	2	2	3	1	2	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:157160233T>G	ENST00000295927.3	+	3	756	c.611T>G	c.(610-612)cTt>cGt	p.L204R	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	204	Pentaxin.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCAATGAGGCTTGAGTCTTTT	0.403																																																	0													86	85	85					3																	157160233		2203	4300	6503	SO:0001583	missense	0			X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"pentaxin-related gene, rapidly induced by IL-1 beta", "tumor necrosis factor, alpha-induced protein 5", "pentraxin-related gene, rapidly induced by IL-1 beta"	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.611T>G	3.37:g.157160233T>G	ENSP00000295927:p.Leu204Arg		B2R6T6|Q38M82	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_LamG-like,prints_Pentaxin	p.L204R	ENST00000295927.3	37	c.611	CCDS3180.1	3	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371426	0.42003	.	.	ENSG00000163661	ENST00000295927	T	0.17213	2.29	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.117936	0.64402	D	0.000014	T	0.52435	0.1734	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65274	-0.6208	10	0.87932	D	0	-15.3308	15.6095	0.76704	0.0:0.0:0.0:1.0	.	204	P26022	PTX3_HUMAN	R	204	ENSP00000295927:L204R	ENSP00000295927:L204R	L	+	2	0	PTX3	158642927	1.000000	0.71417	0.893000	0.35052	0.179000	0.23085	6.909000	0.75735	2.091000	0.63221	0.533000	0.62120	CTT	PTX3	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	ENSG00000163661		0.403	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTX3	HGNC	protein_coding	OTTHUMT00000352028.1		0	76	0	T	NM_002852		157160233	1			no_errors	ENST00000295927	ensembl	human	known	74_37	missense	40.68	35	24	SNP	0.993	G	G	157160233	T	G	157160233	3	3	141	1	0	0	0	0	1	0	0	0	12867	1609	56	4	621	4	PTX3	3	157160233	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	6072997	157160233	40862197	55	35833											
SI	6476	genome.wustl.edu	37	chr3	164714372	164714372	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtatggataaaatgctccaAgttgcatccagcgggtacag	13	9	11	8	1	0	0	0	0	0	0	2	1	2	1	2	2	4	5	2	2	5	4	rs557372761		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:164714372A>C	ENST00000264382.3	-	40	4705	c.4643T>G	c.(4642-4644)cTt>cGt	p.L1548R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1548	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AAATGCTCCAAGTTGCATCCA	0.328										HNSCC(35;0.089)																																							0													82	81	82					3																	164714372		2203	4296	6499	SO:0001583	missense	0			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.4643T>G	3.37:g.164714372A>C	ENSP00000264382:p.Leu1548Arg		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.L1548R	ENST00000264382.3	37	c.4643	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011211	0.75046	.	.	ENSG00000090402	ENST00000264382	D	0.93953	-3.32	4.42	4.42	0.53409	Glycoside hydrolase, superfamily (1);	0.077878	0.52532	D	0.000065	D	0.97729	0.9255	H	0.97158	3.95	0.47819	D	0.999524	D	0.89917	1.0	D	0.97110	1.0	D	0.98816	1.0745	10	0.87932	D	0	.	13.7653	0.62990	1.0:0.0:0.0:0.0	.	1548	P14410	SUIS_HUMAN	R	1548	ENSP00000264382:L1548R	ENSP00000264382:L1548R	L	-	2	0	SI	166197066	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.711000	0.91396	1.982000	0.57802	0.477000	0.44152	CTT	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1		0	48	0	A	NM_001041		164714372	-1			no_errors	ENST00000264382	ensembl	human	known	74_37	missense	31.58	39	18	SNP	1.000	C	C	164714372	A	C	164714372	3	2	141	1	0	0	0	0	1	0	0	0	14342	72	3	4	876	4	SI	3	164714372	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	7554139	164714372	33308058	56	35834											
PIK3CA	5290	genome.wustl.edu	37	chr3	178936096	178936096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgaaatcactgagcaGgagaaagattttctatggag	13	11	10	7	0	3	4	1	2	2	2	4	6	3	5	0	2	1	1	0	2	3	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:178936096G>C	ENST00000263967.3	+	10	1795	c.1638G>C	c.(1636-1638)caG>caC	p.Q546H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546H(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCACTGAGCAGGAGAAAGATT	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	4	Substitution - Missense(4)	endometrium(2)|cervix(1)|large_intestine(1)											62	62	62					3																	178936096		1813	4072	5885	SO:0001583	missense	0				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.1638G>C	3.37:g.178936096G>C	ENSP00000263967:p.Gln546His		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q546H	ENST00000263967.3	37	c.1638	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721757	0.30503	.	.	ENSG00000121879	ENST00000263967	T	0.63096	-0.02	5.78	3.27	0.37495	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	L	0.41492	1.28	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.62937	-0.6748	10	0.36615	T	0.2	-14.2064	10.0913	0.42449	0.8629:0.0:0.1371:0.0	.	546	P42336	PK3CA_HUMAN	H	546	ENSP00000263967:Q546H	ENSP00000263967:Q546H	Q	+	3	2	PIK3CA	180418790	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	2.950000	0.49081	0.451000	0.26802	-0.670000	0.03821	CAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2		0	75	0	G			178936096	1			no_errors	ENST00000263967	ensembl	human	known	74_37	missense	10.84	74	9	SNP	1.000	C	C	178936096	G	C	178936096	3	2	141	1	0	0	0	0	1	0	0	0	11952	991	35	5	1672	5	PIK3CA	3	178936096	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	14221724	178936096	19086334	57	35835											
HTR3D	200909	genome.wustl.edu	37	chr3	183756275	183756275	+	Missense_Mutation	SNP	T	T	C	0	1	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	catcacccacctgctgcacgTggccaccacccagcccctac	8	5	6	22	1	1	0	1	0	0	0	1	0	1	0	7	1	4	2	7	1	1	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:183756275T>C	ENST00000382489.3	+	7	998	c.998T>C	c.(997-999)gTg>gCg	p.V333A	HTR3D_ENST00000334128.2_Missense_Mutation_p.V158A|HTR3D_ENST00000428798.2_Missense_Mutation_p.V283A|HTR3D_ENST00000453435.1_Missense_Mutation_p.V112A	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	333					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)	CTGCTGCACGTGGCCACCACC	0.652																																																	0													84	78	80					3																	183756275		2203	4300	6503	SO:0001583	missense	0			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.998T>C	3.37:g.183756275T>C	ENSP00000371929:p.Val333Ala		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.V333A	ENST00000382489.3	37	c.998	CCDS54685.1	3	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924448	0.52653	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	3.36	3.36	0.38483	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.125600	0.06984	N	0.820510	T	0.78483	0.4290	L	0.54323	1.7	0.21445	N	0.999688	P;P;B;B	0.38551	0.636;0.619;0.363;0.42	B;B;B;B	0.43052	0.344;0.406;0.281;0.217	T	0.63462	-0.6632	10	0.17369	T	0.5	-6.3797	8.352	0.32307	0.0:0.0:0.0:1.0	.	333;158;112;158	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	A	158;283;333;112	ENSP00000334315:V158A;ENSP00000405409:V283A;ENSP00000371929:V333A;ENSP00000389268:V112A	ENSP00000334315:V158A	V	+	2	0	HTR3D	185238969	0.055000	0.20627	1.000000	0.80357	0.814000	0.46013	0.055000	0.14229	1.533000	0.49186	0.379000	0.24179	GTG	HTR3D	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000186090		0.652	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1		0	42	0	T	NM_182537		183756275	1			no_errors	ENST00000382489	ensembl	human	known	74_37	missense	19.51	33	8	SNP	1.000	C	C	183756275	T	C	183756275	3	2	141	1	0	0	0	0	1	0	0	0	7474	1696	59	4	1194	4	HTR3D	3	183756275	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	4820179	183756275	14266155	58	35836											
EVC2	132884	genome.wustl.edu	37	chr4	5664869	5664869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatgctcccagggtcctcGgaagacagaatgtctatcat	11	9	10	11	1	2	2	1	0	1	2	5	3	4	3	2	2	2	2	2	2	3	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:5664869G>A	ENST00000344408.5	-	9	1163	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S	EVC2_ENST00000310917.2_Silent_p.S290S|EVC2_ENST00000344938.1_Silent_p.S370S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	370					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						CAGGGTCCTCGGAAGACAGAA	0.448																																																	0													124	117	120					4																	5664869		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1110C>T	4.37:g.5664869G>A			Q86YT3|Q86YT4|Q8NG49	Silent	SNP	pfam_Limbin	p.S370	ENST00000344408.5	37	c.1110	CCDS3382.2	4																																																																																			EVC2	-	pfam_Limbin	ENSG00000173040		0.448	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2		0	39	0	G	NM_147127		5664869	-1			no_errors	ENST00000344408	ensembl	human	known	74_37	silent	55.56	16	20	SNP	0.025	A	A	5664869	G	A	5664869	2	1	141	1	0	0	0	0	0	0	0	1	5302	1103	39	1		1	EVC2	4	5664869	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09		5664869	185489407	59	35837											
KLB	152831	genome.wustl.edu	37	chr4	39408705	39408705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcctgtcagcacttattCtgctacgagctgttactgga	8	14	8	11	1	3	0	2	0	1	0	4	2	4	1	1	1	5	4	1	1	3	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:39408705C>T	ENST00000257408.4	+	1	233	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	46					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						AGCACTTATTCTGCTACGAGC	0.403																																																	0													108	104	106					4																	39408705		2203	4300	6503	SO:0001819	synonymous_variant	0			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.136C>T	4.37:g.39408705C>T			Q2M3K8	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L46	ENST00000257408.4	37	c.136	CCDS3451.1	4																																																																																			KLB	-	NULL	ENSG00000134962		0.403	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1		0	32	0	C	NM_175737		39408705	1			no_errors	ENST00000257408	ensembl	human	known	74_37	silent	36.11	23	13	SNP	0.005	T	T	39408705	C	T	39408705	2	4	141	1	0	0	0	0	0	0	0	1	8359	912	32	3		3	KLB	4	39408705	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	33743836	39408705	151745571	60	35838											
STAP1	26228	genome.wustl.edu	37	chr4	68459027	68459027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tgattattttgtgaaggagaCtcgaggaaatttaagaccat	14	13	10	4	1	0	4	0	2	0	2	1	7	0	5	1	2	0	0	1	2	4	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:68459027C>T	ENST00000265404.2	+	8	861	c.779C>T	c.(778-780)aCt>aTt	p.T260I	STAP1_ENST00000396225.1_Missense_Mutation_p.T260I	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	260	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GTGAAGGAGACTCGAGGAAAT	0.338																																																	0													165	162	163					4																	68459027		2203	4300	6503	SO:0001583	missense	0			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.779C>T	4.37:g.68459027C>T	ENSP00000265404:p.Thr260Ile		B2R980	Missense_Mutation	SNP	pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.T260I	ENST00000265404.2	37	c.779	CCDS3515.1	4	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993339	0.74703	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.56275	0.47;0.47	5.65	5.65	0.86999	SH2 motif (2);	0.116819	0.56097	D	0.000038	T	0.73156	0.3551	M	0.77820	2.39	0.47441	D	0.999428	D	0.89917	1.0	D	0.85130	0.997	T	0.76088	-0.3087	10	0.87932	D	0	-14.626	15.2201	0.73306	0.0:1.0:0.0:0.0	.	260	Q9ULZ2	STAP1_HUMAN	I	260	ENSP00000265404:T260I;ENSP00000379527:T260I	ENSP00000265404:T260I	T	+	2	0	STAP1	68141622	0.997000	0.39634	0.999000	0.59377	0.990000	0.78478	4.021000	0.57196	2.665000	0.90641	0.650000	0.86243	ACT	STAP1	-	smart_SH2,pfscan_SH2	ENSG00000035720		0.338	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAP1	HGNC	protein_coding	OTTHUMT00000251434.1		0	95	0	C	NM_012108		68459027	1			no_errors	ENST00000265404	ensembl	human	known	74_37	missense	42.68	47	35	SNP	0.999	T	T	68459027	C	T	68459027	3	4	141	1	0	0	0	0	1	0	0	0	15299	565	20	3	809	3	STAP1	4	68459027	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	29050322	68459027	122695249	61	35839											
PTPN13	5783	genome.wustl.edu	37	chr4	87610245	87610245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtttctgttcggactgtgCtggatgcttgcagtgcccac	5	13	13	10	1	1	0	0	0	1	0	2	3	1	2	1	2	4	5	1	2	0	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:87610245C>T	ENST00000411767.2	+	5	511	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	PTPN13_ENST00000427191.2_Silent_p.L150L|PTPN13_ENST00000511467.1_Silent_p.L150L|PTPN13_ENST00000316707.6_Silent_p.L150L|PTPN13_ENST00000436978.1_Silent_p.L150L|PTPN13_ENST00000502971.1_Silent_p.L150L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	150	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				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)		TCGGACTGTGCTGGATGCTTG	0.428																																																	0													166	161	162					4																	87610245		1979	4175	6154	SO:0001819	synonymous_variant	0				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.448C>T	4.37:g.87610245C>T			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L150	ENST00000411767.2	37	c.448	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PAZ_dom,smart_KIND	ENSG00000163629		0.428	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1		0	50	0	C			87610245	1			no_errors	ENST00000436978	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.999	T	T	87610245	C	T	87610245	2	4	141	1	0	0	0	0	0	0	0	1	12825	796	28	3		3	PTPN13	4	87610245	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	19151218	87610245	103544031	62	35840											
ANK2	287	genome.wustl.edu	37	chr4	114279017	114279017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tcacagggtaccacccctgaCaccactcctgctaggacccc	9	6	7	19	0	1	1	1	1	0	0	2	2	2	2	7	2	2	2	7	2	2	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:114279017C>A	ENST00000357077.4	+	38	9296	c.9243C>A	c.(9241-9243)gaC>gaA	p.D3081E	ANK2_ENST00000264366.6_Missense_Mutation_p.D3048E|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3081					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)		CCACCCCTGACACCACTCCTG	0.473																																																	0													62	62	62					4																	114279017		2203	4300	6503	SO:0001583	missense	0			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.9243C>A	4.37:g.114279017C>A	ENSP00000349588:p.Asp3081Glu		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.D3081E	ENST00000357077.4	37	c.9243	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906944	0.52333	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	D;D;D	0.99507	-2.56;-2.58;-6.04	5.78	4.04	0.47022	.	0.000000	0.64402	D	0.000012	D	0.99312	0.9759	M	0.77313	2.365	0.80722	D	1	P;D	0.89917	0.946;1.0	P;D	0.83275	0.514;0.996	D	0.99208	1.0875	10	0.49607	T	0.09	.	8.5812	0.33630	0.0:0.6423:0.0:0.3577	.	3048;3081	Q01484;Q01484-4	ANK2_HUMAN;.	E	3081;3048;91	ENSP00000349588:D3081E;ENSP00000264366:D3048E;ENSP00000422498:D91E	ENSP00000264366:D3048E	D	+	3	2	ANK2	114498466	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.091000	0.30915	0.774000	0.33427	-0.251000	0.11542	GAC	ANK2	-	NULL	ENSG00000145362		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0	23	0	C	NM_001148		114279017	1			no_errors	ENST00000357077	ensembl	human	known	74_37	missense	65.38	9	17	SNP	1.000	A	A	114279017	C	A	114279017	3	1	141	1	0	0	0	0	1	0	0	0	621	477	17	3	9458	3	ANK2	4	114279017	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	26668772	114279017	76875259	63	35841											
FAT4	79633	genome.wustl.edu	37	chr4	126336650	126336650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatataatacaagtgttcGcagcagatggagatgaaggc	15	8	12	6	1	0	4	0	1	0	3	1	5	0	4	0	2	2	3	0	2	5	4	rs373678302		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:126336650G>A	ENST00000394329.3	+	5	6545	c.6532G>A	c.(6532-6534)Gca>Aca	p.A2178T	FAT4_ENST00000335110.5_Missense_Mutation_p.A476T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2178	Cadherin 21. {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)	p.A2178S(2)|p.A2178P(2)		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						ACAAGTGTTCGCAGCAGATGG	0.398																																																	4	Substitution - Missense(4)	lung(4)						G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	155	141	146		6532	5.6	0.6	4		146	0,8600		0,0,4300	no	missense	FAT4	NM_024582.4	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2178/4982	126336650	1,13005	2203	4300	6503	SO:0001583	missense	0			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.6532G>A	4.37:g.126336650G>A	ENSP00000377862:p.Ala2178Thr		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A2178T	ENST00000394329.3	37	c.6532	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946388	0.53079	2.27E-4	0.0	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61392	0.11;0.11	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004257	T	0.79353	0.4431	M	0.93898	3.47	0.80722	D	1	D;D	0.63880	0.993;0.99	P;P	0.58577	0.802;0.841	D	0.84804	0.0786	10	0.87932	D	0	.	15.259	0.73606	0.0:0.0:0.8591:0.1409	.	476;2178	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2178;476	ENSP00000377862:A2178T;ENSP00000335169:A476T	ENSP00000335169:A476T	A	+	1	0	FAT4	126556100	1.000000	0.71417	0.566000	0.28421	0.058000	0.15608	7.722000	0.84778	2.642000	0.89623	0.557000	0.71058	GCA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0	60	0	G	NM_024582		126336650	1			no_errors	ENST00000394329	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.998	A	A	126336650	G	A	126336650	3	1	141	1	0	0	0	0	1	0	0	0	5714	1087	38	1	6550	1	FAT4	4	126336650	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	12057633	126336650	64817626	64	35842											
USP38	84640	genome.wustl.edu	37	chr4	144134913	144134913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtttggaggaaaactacGaactcacatacgttgtttga	14	12	9	6	2	1	1	1	1	0	0	1	4	1	3	0	2	4	3	0	2	6	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:144134913G>A	ENST00000307017.4	+	9	2290	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	USP38_ENST00000510377.1_Missense_Mutation_p.R595Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	595	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGAAAACTACGAACTCACATA	0.413																																																	0													85	81	83					4																	144134913		2203	4300	6503	SO:0001583	missense	0			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.1784G>A	4.37:g.144134913G>A	ENSP00000303434:p.Arg595Gln		B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R595Q	ENST00000307017.4	37	c.1784	CCDS3758.1	4	.	.	.	.	.	.	.	.	.	.	G	9.002	0.980273	0.18812	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.30448	1.53;1.53	5.63	-3.01	0.05463	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.781815	0.12069	N	0.502438	T	0.14141	0.0342	N	0.11651	0.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.33317	-0.9873	10	0.13470	T	0.59	-17.7906	13.2453	0.60020	0.8105:0.0:0.1895:0.0	.	595;595	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	Q	595	ENSP00000427647:R595Q;ENSP00000303434:R595Q	ENSP00000303434:R595Q	R	+	2	0	USP38	144354363	0.345000	0.24835	0.721000	0.30653	0.902000	0.53008	0.283000	0.18846	-0.488000	0.06726	-0.225000	0.12378	CGA	USP38	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000170185		0.413	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP38	HGNC	protein_coding	OTTHUMT00000364869.1		0	20	0	G	NM_032557		144134913	1			no_errors	ENST00000307017	ensembl	human	known	74_37	missense	44.00	14	11	SNP	0.089	A	A	144134913	G	A	144134913	3	1	141	1	0	0	0	0	1	0	0	0	17118	1058	37	1	1818	1	USP38	4	144134913	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	17798263	144134913	47019363	65	35843											
TRIM2	23321	genome.wustl.edu	37	chr4	154215568	154215568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctttgatgagctccaGaagactttaaatgtgcgcaa	12	11	8	10	1	0	4	0	2	0	2	2	4	2	4	3	0	2	2	3	0	4	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:154215568G>T	ENST00000437508.2	+	5	837	c.636G>T	c.(634-636)caG>caT	p.Q212H	TRIM2_ENST00000338700.5_Missense_Mutation_p.Q239H|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	212					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)		ATGAGCTCCAGAAGACTTTAA	0.423																																																	0													144	126	132					4																	154215568		2203	4300	6503	SO:0001583	missense	0			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.636G>T	4.37:g.154215568G>T	ENSP00000415812:p.Gln212His		D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q239H	ENST00000437508.2	37	c.717	CCDS47147.1	4	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074553	0.55646	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.69561	-0.4;-0.41	6.17	6.17	0.99709	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	N	0.22421	0.69	0.80722	D	1	P;P	0.39964	0.697;0.697	B;B	0.41691	0.364;0.364	T	0.58763	-0.7579	10	0.40728	T	0.16	-0.2006	20.8794	0.99867	0.0:0.0:1.0:0.0	.	239;212	D3DP09;Q9C040	.;TRIM2_HUMAN	H	212;239	ENSP00000415812:Q212H;ENSP00000339659:Q239H	ENSP00000339659:Q239H	Q	+	3	2	TRIM2	154435018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.341000	0.65964	2.941000	0.99782	0.655000	0.94253	CAG	TRIM2	-	smart_Bbox_C	ENSG00000109654		0.423	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1		0	42	0	G			154215568	1			no_errors	ENST00000338700	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	154215568	G	T	154215568	3	4	141	1	0	0	0	0	1	0	0	0	16542	933	33	3	735	3	TRIM2	4	154215568	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	10080655	154215568	36938708	66	35844											
ODZ3	55714	genome.wustl.edu	37	chr4	183651467	183651467	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tatactattacccgccaggaCggaatgtgagttagtcccat	11	11	9	10	2	0	1	0	1	0	0	1	3	1	3	3	2	2	1	3	2	6	5	rs529748049		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:183651467C>T	ENST00000511685.1	+	15	2823	c.2700C>T	c.(2698-2700)gaC>gaT	p.D900D	TENM3_ENST00000406950.2_Silent_p.D900D|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	900					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)										CCCGCCAGGACGGAATGTGAG	0.398																																																	0													104	96	99					4																	183651467		1865	4089	5954	SO:0001819	synonymous_variant	0			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.2700C>T	4.37:g.183651467C>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.D900	ENST00000511685.1	37	c.2700	CCDS47165.1	4																																																																																			TENM3	-	superfamily_CarboxyPept-like_regulatory	ENSG00000218336		0.398	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1		0	38	0	C			183651467	1			no_errors	ENST00000406950	ensembl	human	known	74_37	silent	36.73	31	18	SNP	0.966	T	T	183651467	C	T	183651467	2	4	141	1	0	0	0	0	0	0	0	1	10875	535	19	1		1	ODZ3	4	183651467	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	29435899	183651467	7502809	67	35845											
KLKB1	3818	genome.wustl.edu	37	chr4	187175794	187175794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggcattttaaatctgtcaGacattacaaaagatacacct	15	12	6	8	0	2	2	1	0	1	2	2	2	2	2	1	1	2	1	1	1	6	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:187175794G>C	ENST00000264690.6	+	12	1553	c.1366G>C	c.(1366-1368)Gac>Cac	p.D456H	KLKB1_ENST00000513864.1_Missense_Mutation_p.D456H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	456	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAATCTGTCAGACATTACAAA	0.368																																																	0													119	117	118					4																	187175794		2203	4300	6503	SO:0001583	missense	0			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1366G>C	4.37:g.187175794G>C	ENSP00000264690:p.Asp456His		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.D456H	ENST00000264690.6	37	c.1366	CCDS34120.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.93|12.93	2.084356|2.084356	0.36758|0.36758	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715|ENST00000511608	D;D|.	0.88354|.	-2.37;-2.37|.	5.7|5.7	3.06|3.06	0.35304|0.35304	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.553105|.	0.19406|.	N|.	0.115058|.	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.11756|0.11756	0.17|0.17	0.25495|0.25495	N|N	0.987607|0.987607	P;P;P|.	0.39094|.	0.659;0.623;0.659|.	B;B;B|.	0.43155|.	0.269;0.41;0.269|.	T|T	0.22452|0.22452	-1.0216|-1.0216	10|5	0.66056|.	D|.	0.02|.	.|.	8.5585|8.5585	0.33496|0.33496	0.2892:0.0:0.7108:0.0|0.2892:0.0:0.7108:0.0	.|.	418;456;456|.	E7EQA8;A8K9A9;P03952|.	.;.;KLKB1_HUMAN|.	H|H	456;456;418|503	ENSP00000264690:D456H;ENSP00000424469:D456H|.	ENSP00000264690:D456H|.	D|Q	+|+	1|3	0|2	KLKB1|KLKB1	187412788|187412788	1.000000|1.000000	0.71417|0.71417	0.143000|0.143000	0.22291|0.22291	0.281000|0.281000	0.26958|0.26958	2.284000|2.284000	0.43478|0.43478	0.778000|0.778000	0.33520|0.33520	0.655000|0.655000	0.94253|0.94253	GAC|CAG	KLKB1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000164344		0.368	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000317732.1		0	35	0	G	NM_000892		187175794	1			no_errors	ENST00000264690	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.928	C	C	187175794	G	C	187175794	3	2	141	1	0	0	0	0	1	0	0	0	8439	942	33	5	1408	5	KLKB1	4	187175794	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	3524327	187175794	3978482	68	35846											
CTNND2	1501	genome.wustl.edu	37	chr5	11411748	11411748	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttgtaagctcatcttcGatatctttttgaccatctga	8	17	6	10	1	4	2	1	2	3	0	5	3	4	2	2	0	1	3	2	0	2	6	rs374819899		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:11411748G>T	ENST00000304623.8	-	5	528	c.339C>A	c.(337-339)atC>atA	p.I113I	CTNND2_ENST00000359640.2_Silent_p.I113I|CTNND2_ENST00000511377.1_Silent_p.I22I|CTNND2_ENST00000503622.1_Silent_p.I22I|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	113					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTCATCTTCGATATCTTTTT	0.343																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	88	83	85		339	0.6	1	5		85	0,8600		0,0,4300	no	coding-synonymous	CTNND2	NM_001332.2		0,1,6502	TT,TG,GG		0.0,0.0227,0.0077		113/1226	11411748	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.339C>A	5.37:g.11411748G>T			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.I113	ENST00000304623.8	37	c.339	CCDS3881.1	5																																																																																			CTNND2	-	NULL	ENSG00000169862		0.343	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1		0	36	0	G	NM_001332		11411748	-1			no_errors	ENST00000304623	ensembl	human	known	74_37	silent	15.91	37	7	SNP	0.999	T	T	11411748	G	T	11411748	2	4	141	1	0	0	0	0	0	0	0	1	4029	1048	37	2		2	CTNND2	5	11411748	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09		11411748	169503512	69	35847											
PDZD2	23037	genome.wustl.edu	37	chr5	31983574	31983574	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttggaaacggccatgtcTttcagctagaaaatggccca	13	9	9	10	1	2	1	1	0	1	1	2	2	2	2	2	3	3	1	2	3	5	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:31983574T>G	ENST00000438447.1	+	3	1178	c.790T>G	c.(790-792)Ttt>Gtt	p.F264V	PDZD2_ENST00000282493.3_Missense_Mutation_p.F264V			O15018	PDZD2_HUMAN	PDZ domain containing 2	264					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGGCCATGTCTTTCAGCTAGA	0.552																																																	0													65	67	67					5																	31983574		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.790T>G	5.37:g.31983574T>G	ENSP00000402033:p.Phe264Val		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F264V	ENST00000438447.1	37	c.790	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	T	9.161	1.018660	0.19355	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05786	3.39;3.39	4.19	3.02	0.34903	.	0.613450	0.14700	N	0.303622	T	0.03959	0.0111	N	0.19112	0.55	0.09310	N	1	B;B	0.26318	0.051;0.146	B;B	0.24974	0.016;0.057	T	0.45145	-0.9281	10	0.19147	T	0.46	.	6.5634	0.22499	0.0:0.1074:0.0:0.8926	.	90;264	B4E3P2;O15018	.;PDZD2_HUMAN	V	264	ENSP00000402033:F264V;ENSP00000282493:F264V	ENSP00000282493:F264V	F	+	1	0	PDZD2	32019331	0.960000	0.32886	0.020000	0.16555	0.312000	0.27988	-0.304000	0.08199	0.940000	0.37473	0.528000	0.53228	TTT	PDZD2	-	NULL	ENSG00000133401		0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1		0	28	0	T			31983574	1			no_errors	ENST00000282493	ensembl	human	known	74_37	missense	38.71	19	12	SNP	0.052	G	G	31983574	T	G	31983574	3	3	141	1	0	0	0	0	1	0	0	0	11740	1609	56	4	796	4	PDZD2	5	31983574	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	20571826	31983574	148931686	70	35848											
HCN1	348980	genome.wustl.edu	37	chr5	45396616	45396616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcttgatactgccgcctcGaagaatccagagactggatt	10	11	9	11	2	1	3	0	1	1	2	4	6	2	4	3	1	2	0	3	1	3	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:45396616G>A	ENST00000303230.4	-	4	1265	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	403					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						CTGCCGCCTCGAAGAATCCAG	0.448																																																	0													51	50	50					5																	45396616		2203	4300	6503	SO:0001583	missense	0			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.1208C>T	5.37:g.45396616G>A	ENSP00000307342:p.Ser403Leu			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.S403L	ENST00000303230.4	37	c.1208	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.546601	0.96488	.	.	ENSG00000164588	ENST00000303230	D	0.96967	-4.19	5.42	5.42	0.78866	Cyclic nucleotide-binding-like (1);	0.000000	0.53938	D	0.000060	D	0.96144	0.8743	M	0.82132	2.575	0.80722	D	1	D	0.71674	0.998	B	0.41894	0.369	D	0.96823	0.9605	10	0.87932	D	0	.	19.4084	0.94658	0.0:0.0:1.0:0.0	.	403	O60741	HCN1_HUMAN	L	403	ENSP00000307342:S403L	ENSP00000307342:S403L	S	-	2	0	HCN1	45432373	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	9.657000	0.98554	2.820000	0.97059	0.650000	0.86243	TCG	HCN1	-	superfamily_cNMP-bd-like	ENSG00000164588		0.448	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1		0	37	0	G	NM_021072		45396616	-1			no_errors	ENST00000303230	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	A	A	45396616	G	A	45396616	3	1	141	1	0	0	0	0	1	0	0	0	7023	1059	37	1	1484	1	HCN1	5	45396616	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	13413042	45396616	135518644	71	35849											
ITGA2	3673	genome.wustl.edu	37	chr5	52385875	52385875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccttttgctgttagctctgGttgcaattttatggaaggta	7	18	10	6	0	1	0	0	0	1	0	2	1	2	1	1	3	3	6	1	3	5	7			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:52385875G>T	ENST00000296585.5	+	29	3591	c.3448G>T	c.(3448-3450)Gtt>Ttt	p.V1150F	CTD-2366F13.2_ENST00000606157.1_RNA	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1150					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)				GTTAGCTCTGGTTGCAATTTT	0.373																																																	0													156	178	170					5																	52385875		2203	4300	6503	SO:0001583	missense	0				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.3448G>T	5.37:g.52385875G>T	ENSP00000296585:p.Val1150Phe		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.V1150F	ENST00000296585.5	37	c.3448	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427936	0.62733	.	.	ENSG00000164171	ENST00000296585	T	0.61392	0.11	5.77	2.44	0.29823	.	0.355668	0.28560	N	0.014904	T	0.60392	0.2265	M	0.75615	2.305	0.21579	N	0.999631	P	0.44776	0.843	P	0.49252	0.604	T	0.53387	-0.8446	10	0.52906	T	0.07	.	5.6681	0.17707	0.237:0.1599:0.6031:0.0	.	1150	P17301	ITA2_HUMAN	F	1150	ENSP00000296585:V1150F	ENSP00000296585:V1150F	V	+	1	0	ITGA2	52421632	1.000000	0.71417	0.588000	0.28705	0.864000	0.49448	2.616000	0.46376	0.852000	0.35287	0.650000	0.86243	GTT	ITGA2	-	prints_Integrin_alpha	ENSG00000164171		0.373	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2		0	104	0	G	NM_002203		52385875	1			no_errors	ENST00000296585	ensembl	human	known	74_37	missense	13.00	87	13	SNP	0.227	T	T	52385875	G	T	52385875	3	4	141	1	0	0	0	0	1	0	0	0	7902	1261	44	3	3562	3	ITGA2	5	52385875	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	6989259	52385875	128529385	72	35850											
KCNN2	3781	genome.wustl.edu	37	chr5	113698686	113698686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcgtggtgtctaagcccGagcacaacaactccaacaac	14	6	8	13	2	1	1	0	0	1	1	3	2	2	1	2	1	6	1	2	1	5	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:113698686G>A	ENST00000512097.3	+	2	1232	c.214G>A	c.(214-216)Gag>Aag	p.E72K	KCNN2_ENST00000264773.3_Missense_Mutation_p.E72K			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	72					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GTCTAAGCCCGAGCACAACAA	0.711																																																	0													26	24	25					5																	113698686		2190	4286	6476	SO:0001583	missense	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.214G>A	5.37:g.113698686G>A	ENSP00000427120:p.Glu72Lys		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.E72K	ENST00000512097.3	37	c.214	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683774	0.88639	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98926	-5.24;-5.24	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000011	D	0.97770	0.9268	M	0.68952	2.095	0.80722	D	1	D	0.55605	0.972	B	0.42361	0.385	D	0.98276	1.0506	10	0.52906	T	0.07	.	18.9222	0.92529	0.0:0.0:1.0:0.0	.	72	Q9H2S1	KCNN2_HUMAN	K	72	ENSP00000427120:E72K;ENSP00000264773:E72K	ENSP00000264773:E72K	E	+	1	0	KCNN2	113726585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.910000	0.92685	2.562000	0.86427	0.655000	0.94253	GAG	KCNN2	-	NULL	ENSG00000080709		0.711	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2		0	39	0	G	NM_021614		113698686	1			no_errors	ENST00000264773	ensembl	human	known	74_37	missense	12.12	27	4	SNP	1.000	A	A	113698686	G	A	113698686	3	1	141	1	0	0	0	0	1	0	0	0	8106	1059	37	1	216	1	KCNN2	5	113698686	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	61312811	113698686	67216574	73	35851											
SLC27A6	28965	genome.wustl.edu	37	chr5	128326101	128326101	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gtgactgcaagaagtatgatGtgactgtgtttcagtatatt	11	15	11	4	0	1	4	1	3	0	1	1	4	1	4	0	0	1	4	0	0	5	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:128326101G>A	ENST00000262462.4	+	4	1923	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	SLC27A6_ENST00000395266.1_Missense_Mutation_p.V305M|SLC27A6_ENST00000506176.1_Missense_Mutation_p.V305M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	305					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAAGTATGATGTGACTGTGTT	0.363																																																	0													127	122	124					5																	128326101		2203	4300	6503	SO:0001583	missense	0			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.913G>A	5.37:g.128326101G>A	ENSP00000262462:p.Val305Met		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V305M	ENST00000262462.4	37	c.913	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016747	0.75161	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.59	3.73	0.42828	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	M	0.93016	3.37	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.82002	-0.0673	9	.	.	.	-0.0174	13.8344	0.63400	0.075:0.0:0.925:0.0	.	305	Q9Y2P4	S27A6_HUMAN	M	124;305;305;305	ENSP00000421759:V124M;ENSP00000262462:V305M;ENSP00000378684:V305M;ENSP00000421024:V305M	.	V	+	1	0	SLC27A6	128354000	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.114000	0.64648	1.534000	0.49203	0.650000	0.86243	GTG	SLC27A6	-	pfam_AMP-dep_Synth/Lig	ENSG00000113396		0.363	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1		0	60	0	G	NM_014031		128326101	1			no_errors	ENST00000262462	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A	A	128326101	G	A	128326101	3	1	141	1	0	0	0	0	1	0	0	0	14575	1377	48	3	927	3	SLC27A6	5	128326101	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	14627415	128326101	52589159	74	35852											
HSPA9	3313	genome.wustl.edu	37	chr5	137895569	137895569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacctggctcttcttggttGgaatagtggtattcctatta	7	18	9	7	0	2	0	0	0	2	0	3	1	3	1	2	4	1	3	2	4	6	9			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:137895569G>T	ENST00000297185.3	-	11	1519	c.1394C>A	c.(1393-1395)cCa>cAa	p.P465Q	SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron|SNORD63_ENST00000384262.1_RNA	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	465					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)			CTTCTTGGTTGGAATAGTGGT	0.438																																																	0													66	72	70					5																	137895569		2203	4300	6503	SO:0001583	missense	0			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.1394C>A	5.37:g.137895569G>T	ENSP00000297185:p.Pro465Gln		B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	p.P465Q	ENST00000297185.3	37	c.1394	CCDS4208.1	5	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710634	0.89112	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.45668	0.89	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	H	0.99991	5.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92459	0.5976	10	0.87932	D	0	-10.0854	19.3107	0.94186	0.0:0.0:1.0:0.0	.	396;465	B7Z1V7;P38646	.;GRP75_HUMAN	Q	465;418;451	ENSP00000297185:P465Q	ENSP00000297185:P465Q	P	-	2	0	HSPA9	137923468	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.771000	0.98977	2.749000	0.94314	0.655000	0.94253	CCA	HSPA9	-	pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK	ENSG00000113013		0.438	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1		0	76	0	G	NM_004134		137895569	-1			no_errors	ENST00000297185	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	137895569	G	T	137895569	3	4	141	1	0	0	0	0	1	0	0	0	7444	1348	47	3	673	3	HSPA9	5	137895569	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	9569468	137895569	43019691	75	35853											
GRPEL2	134266	genome.wustl.edu	37	chr5	148730657	148730657	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtttgccaagcatggcctgGagaaactgacacccattggt	10	10	11	10	0	0	2	0	1	0	1	0	3	0	2	3	3	3	2	3	3	2	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:148730657G>C	ENST00000329271.3	+	4	600	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_3'UTR|GRPEL2_ENST00000507562.1_3'UTR	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	164					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)	p.E164*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGGCCTGGAGAAACTGAC	0.517																																																	1	Substitution - Nonsense(1)	lung(1)											147	143	145					5																	148730657		2203	4300	6503	SO:0001583	missense	0			AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.490G>C	5.37:g.148730657G>C	ENSP00000329558:p.Glu164Gln		B4DFA6|Q49AJ6	Missense_Mutation	SNP	pfam_GrpE,superfamily_GrpE_head,prints_GrpE	p.E164Q	ENST00000329271.3	37	c.490	CCDS4295.1	5	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348648	0.41599	.	.	ENSG00000164284	ENST00000329271	.	.	.	5.95	2.89	0.33648	GrpE nucleotide exchange factor, head (2);	0.204155	0.42682	N	0.000673	T	0.49729	0.1574	N	0.25485	0.75	0.80722	D	1	B	0.17465	0.022	B	0.19946	0.027	T	0.47824	-0.9087	9	0.33141	T	0.24	-13.0241	16.2933	0.82760	0.0:0.5095:0.4905:0.0	.	164	Q8TAA5	GRPE2_HUMAN	Q	164	.	ENSP00000329558:E164Q	E	+	1	0	GRPEL2	148710850	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.717000	0.47227	1.474000	0.48178	0.655000	0.94253	GAG	GRPEL2	-	pfam_GrpE,superfamily_GrpE_head	ENSG00000164284		0.517	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPEL2	HGNC	protein_coding	OTTHUMT00000252327.1		0	16	0	G	NM_152407		148730657	1			no_errors	ENST00000329271	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	C	C	148730657	G	C	148730657	3	2	141	1	0	0	0	0	1	0	0	0	6834	1175	41	5	504	5	GRPEL2	5	148730657	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	10835088	148730657	32184603	76	35854											
GRIA1	2890	genome.wustl.edu	37	chr5	152873587	152873587	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgctcccccagattgataTtgtgaacatcagcgacagct	10	10	9	12	1	1	3	1	2	0	1	2	4	2	3	2	0	4	3	2	0	2	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:152873587T>C	ENST00000285900.5	+	2	525	c.182T>C	c.(181-183)aTt>aCt	p.I61T	GRIA1_ENST00000518783.1_Missense_Mutation_p.I71T|GRIA1_ENST00000521843.2_5'UTR|GRIA1_ENST00000518142.1_Missense_Mutation_p.I61T|GRIA1_ENST00000448073.4_Missense_Mutation_p.I71T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.I61T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	61					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)	CAGATTGATATTGTGAACATC	0.463																																																	0													96	96	96					5																	152873587		2203	4300	6503	SO:0001583	missense	0				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.182T>C	5.37:g.152873587T>C	ENSP00000285900:p.Ile61Thr		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I71T	ENST00000285900.5	37	c.212	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	T	16.03	3.007346	0.54361	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000518783;ENST00000448073	D;T;D;D;D	0.84146	-1.81;2.78;-1.81;-1.81;-1.81	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.139047	0.64402	D	0.000007	T	0.82148	0.4974	N	0.03608	-0.345	0.80722	D	1	P;P;D;P;P;B	0.54772	0.8;0.8;0.968;0.8;0.762;0.057	B;B;D;B;B;B	0.67900	0.37;0.37;0.954;0.37;0.254;0.105	D	0.85404	0.1133	10	0.41790	T	0.15	.	14.7347	0.69406	0.0:0.0:0.0:1.0	.	71;71;61;71;61;61	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	T	61;61;61;61;71;71	ENSP00000285900:I61T;ENSP00000427920:I61T;ENSP00000339343:I61T;ENSP00000428994:I71T;ENSP00000415569:I71T	ENSP00000285900:I61T	I	+	2	0	GRIA1	152853780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.204000	0.72143	2.060000	0.61445	0.533000	0.62120	ATT	GRIA1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000155511		0.463	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3		0	37	0	T			152873587	1			no_errors	ENST00000448073	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	C	C	152873587	T	C	152873587	3	2	141	1	0	0	0	0	1	0	0	0	6794	1493	52	4	188	4	GRIA1	5	152873587	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	4142930	152873587	28041673	77	35855											
KIF4B	285643	genome.wustl.edu	37	chr5	154396400	154396400	+	Missense_Mutation	SNP	T	T	G	0	1	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	tgaaatcatcaagcagaaacTgatcctcctccaggtagcca	14	8	7	12	0	2	3	2	2	0	1	5	3	5	3	4	1	3	2	4	1	4	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:154396400T>G	ENST00000435029.4	+	1	3141	c.2981T>G	c.(2980-2982)cTg>cGg	p.L994R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	994	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)			AAGCAGAAACTGATCCTCCTC	0.438																																																	0													155	158	157					5																	154396400		2203	4300	6503	SO:0001583	missense	0			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.2981T>G	5.37:g.154396400T>G	ENSP00000387875:p.Leu994Arg			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L994R	ENST00000435029.4	37	c.2981	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	t	6.869	0.529662	0.13127	.	.	ENSG00000226650	ENST00000435029	T	0.69561	-0.41	1.55	0.27	0.15635	.	.	.	.	.	T	0.54367	0.1854	L	0.59436	1.845	0.35426	D	0.793629	B	0.32573	0.376	B	0.29598	0.104	T	0.52845	-0.8521	9	0.34782	T	0.22	.	5.7956	0.18385	0.0:0.0:0.2731:0.7269	.	994	Q2VIQ3	KIF4B_HUMAN	R	994	ENSP00000387875:L994R	ENSP00000387875:L994R	L	+	2	0	KIF4B	154376593	0.968000	0.33430	0.552000	0.28243	0.143000	0.21401	2.086000	0.41643	0.056000	0.16144	-0.429000	0.05907	CTG	KIF4B	-	NULL	ENSG00000226650		0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1		0	38	0	T			154396400	1			no_errors	ENST00000435029	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.976	G	G	154396400	T	G	154396400	3	3	141	1	0	0	0	0	1	0	0	0	8331	1580	55	4	2983	4	KIF4B	5	154396400	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	1522813	154396400	26518860	78	35856											
SLIT3	6586	genome.wustl.edu	37	chr5	168199825	168199825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcttgatctggctgatgcGcttgttggcgagtcggcgcg	3	12	16	10	5	2	2	0	2	2	0	3	3	2	2	0	3	1	4	0	3	0	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:168199825G>A	ENST00000519560.1	-	14	1839	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	SLIT3_ENST00000404867.3_Missense_Mutation_p.R474C|SLIT3_ENST00000332966.8_Missense_Mutation_p.R474C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	474	LRRCT 2.				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)			TGGCTGATGCGCTTGTTGGCG	0.627																																					Ovarian(29;311 847 10864 17279 24903)												0													46	47	47					5																	168199825		2203	4300	6503	SO:0001583	missense	0			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.1420C>T	5.37:g.168199825G>A	ENSP00000430333:p.Arg474Cys		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R474C	ENST00000519560.1	37	c.1420	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735435	0.89482	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.77098	-1.07;-1.06;-1.06	5.49	5.49	0.81192	Cysteine-rich flanking region, C-terminal (2);	0.107094	0.64402	D	0.000009	D	0.88411	0.6429	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.999;1.0	D	0.89732	0.3927	10	0.87932	D	0	.	14.2451	0.65983	0.0:0.0:0.851:0.149	.	474;474;474	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	C	474	ENSP00000430333:R474C;ENSP00000332164:R474C;ENSP00000384890:R474C	ENSP00000332164:R474C	R	-	1	0	SLIT3	168132403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.871000	0.87180	2.566000	0.86566	0.561000	0.74099	CGC	SLIT3	-	pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C	ENSG00000184347		0.627	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0	147	0	G	NM_003062		168199825	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	missense	28.29	109	43	SNP	1.000	A	A	168199825	G	A	168199825	3	1	141	1	0	0	0	0	1	0	0	0	14786	1087	38	1	3243	1	SLIT3	5	168199825	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	13803425	168199825	12715435	79	35857											
GABRP	2568	genome.wustl.edu	37	chr5	170239137	170239137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcttccgagaaaagatgGgcaggattgttgattatttc	10	15	11	5	1	1	3	0	1	1	2	3	5	2	4	1	2	0	2	1	2	3	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:170239137G>A	ENST00000518525.1	+	11	1662	c.1198G>A	c.(1198-1200)Ggc>Agc	p.G400S	GABRP_ENST00000265294.4_Missense_Mutation_p.G400S|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	400					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)	AGAAAAGATGGGCAGGATTGT	0.378																																																	0													113	107	109					5																	170239137		2203	4300	6503	SO:0001583	missense	0			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.1198G>A	5.37:g.170239137G>A	ENSP00000430100:p.Gly400Ser		A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G400S	ENST00000518525.1	37	c.1198	CCDS4375.1	5	.	.	.	.	.	.	.	.	.	.	G	8.968	0.972193	0.18736	.	.	ENSG00000094755	ENST00000518525;ENST00000265294	T;T	0.80994	-1.44;-1.44	5.74	2.98	0.34508	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.522386	0.22416	N	0.060341	T	0.55593	0.1930	N	0.12182	0.205	0.22226	N	0.999276	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	10	0.07644	T	0.81	.	3.4409	0.07463	0.2051:0.115:0.5617:0.1181	.	400	O00591	GBRP_HUMAN	S	400	ENSP00000430100:G400S;ENSP00000265294:G400S	ENSP00000265294:G400S	G	+	1	0	GABRP	170171715	0.937000	0.31787	0.997000	0.53966	0.971000	0.66376	0.705000	0.25675	0.345000	0.23873	0.655000	0.94253	GGC	GABRP	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,tigrfam_Neur_channel	ENSG00000094755		0.378	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRP	HGNC	protein_coding	OTTHUMT00000252834.3		0	69	0	G	NM_014211		170239137	1			no_errors	ENST00000265294	ensembl	human	known	74_37	missense	16.84	79	16	SNP	0.991	A	A	170239137	G	A	170239137	3	1	141	1	0	0	0	0	1	0	0	0	6198	1232	43	3	1232	3	GABRP	5	170239137	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	2039312	170239137	10676123	80	35858											
DRD1	1812	genome.wustl.edu	37	chr5	174869940	174869940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagttggtcaccttggaccGcaggtgtcggaacctgataa	10	9	13	9	2	1	1	1	1	0	0	2	4	1	3	3	4	1	2	3	4	3	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:174869940G>A	ENST00000393752.2	-	2	1155	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	55					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACCTTGGACCGCAGGTGTCGG	0.572																																																	0													97	80	86					5																	174869940		2203	4300	6503	SO:0001583	missense	0			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.163C>T	5.37:g.174869940G>A	ENSP00000377353:p.Arg55Trp		B2RA44|Q4QRJ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam	p.R55W	ENST00000393752.2	37	c.163	CCDS4393.1	5	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129522	0.56721	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.45276	0.9	5.39	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77565	0.4149	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86726	0.1945	10	0.87932	D	0	.	14.7105	0.69229	0.0:0.0:0.5591:0.4409	.	55	P21728	DRD1_HUMAN	W	55	ENSP00000377353:R55W	ENSP00000327652:R55W	R	-	1	2	DRD1	174802546	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.526000	0.35964	0.725000	0.32318	0.650000	0.86243	CGG	DRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_rcpt	ENSG00000184845		0.572	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	HGNC	protein_coding	OTTHUMT00000252982.2		0	14	0	G	NM_000794		174869940	-1			no_errors	ENST00000393752	ensembl	human	known	74_37	missense	35.71	9	5	SNP	1.000	A	A	174869940	G	A	174869940	3	1	141	1	0	0	0	0	1	0	0	0	4770	1086	38	1	1181	1	DRD1	5	174869940	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	4630803	174869940	6045320	81	35859											
ZNF354A	6940	genome.wustl.edu	37	chr5	178140243	178140243	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagactacatttatagcgTttatctgctgtaatttttgg	10	17	7	7	1	1	1	0	0	1	1	1	1	1	1	0	1	3	3	0	1	5	9			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:178140243T>G	ENST00000335815.2	-	5	833	c.636A>C	c.(634-636)aaA>aaC	p.K212N		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	212					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)		ATTTATAGCGTTTATCTGCTG	0.333																																																	0													220	211	214					5																	178140243		2202	4300	6502	SO:0001583	missense	0			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.636A>C	5.37:g.178140243T>G	ENSP00000337122:p.Lys212Asn		Q9UNJ8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K212N	ENST00000335815.2	37	c.636	CCDS4438.1	5	.	.	.	.	.	.	.	.	.	.	T	11.63	1.695204	0.30052	.	.	ENSG00000169131	ENST00000335815	T	0.40476	1.03	4.64	0.64	0.17752	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34435	N	0.003966	T	0.49745	0.1575	M	0.75615	2.305	0.35545	D	0.803377	D	0.63880	0.993	P	0.53954	0.738	T	0.59252	-0.7489	10	0.87932	D	0	-24.233	7.1026	0.25346	0.0:0.3514:0.0:0.6486	.	212	O60765	Z354A_HUMAN	N	212	ENSP00000337122:K212N	ENSP00000337122:K212N	K	-	3	2	ZNF354A	178072849	1.000000	0.71417	0.892000	0.35008	0.575000	0.36095	1.170000	0.31883	0.016000	0.14998	0.533000	0.62120	AAA	ZNF354A	-	NULL	ENSG00000169131		0.333	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354A	HGNC	protein_coding	OTTHUMT00000253481.1		0	149	0	T	NM_005649		178140243	-1			no_errors	ENST00000335815	ensembl	human	known	74_37	missense	30.61	136	60	SNP	1.000	G	G	178140243	T	G	178140243	3	3	141	1	0	0	0	0	1	0	0	0	17912	1722	60	4	1185	4	ZNF354A	5	178140243	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	3270303	178140243	2775017	82	35860											
DSP	1832	genome.wustl.edu	37	chr6	7583070	7583070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggagtgtgagaaacagCaaattcagaatgacctgaat	15	8	11	7	0	1	4	1	3	0	2	1	6	1	5	2	1	2	1	2	1	4	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:7583070C>A	ENST00000379802.3	+	24	5916	c.5575C>A	c.(5575-5577)Caa>Aaa	p.Q1859K	DSP_ENST00000418664.2_Missense_Mutation_p.Q1260K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1859	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)		TGAGAAACAGCAAATTCAGAA	0.473																																																	0													89	92	91					6																	7583070		2203	4300	6503	SO:0001583	missense	0			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.5575C>A	6.37:g.7583070C>A	ENSP00000369129:p.Gln1859Lys		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q1859K	ENST00000379802.3	37	c.5575	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	11.83	1.757108	0.31137	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.61742	0.08;0.08	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000027	T	0.21509	0.0518	N	0.19112	0.55	0.20196	N	0.99992	B;B	0.22683	0.055;0.073	B;B	0.17433	0.018;0.018	T	0.19095	-1.0316	10	0.02654	T	1	.	19.3485	0.94374	0.0:1.0:0.0:0.0	.	1307;1859	Q4LE79;P15924	.;DESP_HUMAN	K	1859;1260	ENSP00000369129:Q1859K;ENSP00000396591:Q1260K	ENSP00000369129:Q1859K	Q	+	1	0	DSP	7528069	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.454000	0.44979	2.552000	0.86080	0.650000	0.86243	CAA	DSP	-	NULL	ENSG00000096696		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2		0	39	0	C	NM_004415		7583070	1			no_errors	ENST00000379802	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	7583070	C	A	7583070	3	1	141	1	0	0	0	0	1	0	0	0	4795	711	25	3	5669	3	DSP	6	7583070	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09		7583070	163531997	83	35861											
HIST1H1C	3006	genome.wustl.edu	37	chr6	26056307	26056307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgcctttttaaccttgggcTtggcttccccggaggctgcc	3	12	11	15	2	0	0	0	0	0	0	1	1	1	1	6	4	2	3	6	4	1	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:26056307T>C	ENST00000343677.2	-	1	392	c.350A>G	c.(349-351)aAg>aGg	p.K117R		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	117					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						AACCTTGGGCTTGGCTTCCCC	0.582																																																	0													67	76	73					6																	26056307		2203	4300	6503	SO:0001583	missense	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.350A>G	6.37:g.26056307T>C	ENSP00000339566:p.Lys117Arg		A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K117R	ENST00000343677.2	37	c.350	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	T	11.33	1.606588	0.28623	.	.	ENSG00000187837	ENST00000343677	T	0.09817	2.94	5.54	5.54	0.83059	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.746307	0.12422	N	0.470298	T	0.09992	0.0245	L	0.47016	1.485	0.58432	D	0.999994	D	0.56521	0.976	P	0.50049	0.629	T	0.18999	-1.0319	10	0.30078	T	0.28	-6.4936	15.1351	0.72558	0.0:0.0:0.0:1.0	.	117	P16403	H12_HUMAN	R	117	ENSP00000339566:K117R	ENSP00000339566:K117R	K	-	2	0	HIST1H1C	26164286	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	4.122000	0.57910	2.229000	0.72834	0.533000	0.62120	AAG	HIST1H1C	-	NULL	ENSG00000187837		0.582	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1		0	30	0	T	NM_005319		26056307	-1			no_errors	ENST00000343677	ensembl	human	known	74_37	missense	63.64	12	21	SNP	1.000	C	C	26056307	T	C	26056307	3	2	141	1	0	0	0	0	1	0	0	0	7151	1609	56	4	295	4	HIST1H1C	6	26056307	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	18473237	26056307	145058760	84	35862											
HIST1H1B	3009	genome.wustl.edu	37	chr6	27834859	27834859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggagtcttcttcactgccTttttcgcccctgcagccttc	3	15	7	16	2	3	0	1	0	2	0	6	1	3	1	4	1	3	1	4	1	0	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:27834859T>C	ENST00000331442.3	-	1	500	c.449A>G	c.(448-450)aAg>aGg	p.K150R		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	150					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.K150R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTTCACTGCCTTTTTCGCCCC	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)											97	111	106					6																	27834859		2203	4299	6502	SO:0001583	missense	0			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.449A>G	6.37:g.27834859T>C	ENSP00000330074:p.Lys150Arg		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K150R	ENST00000331442.3	37	c.449	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041746	0.75732	.	.	ENSG00000184357	ENST00000331442	T	0.16597	2.33	5.19	5.19	0.71726	.	0.336830	0.26594	N	0.023513	T	0.11879	0.0289	N	0.08118	0	0.50467	D	0.999877	D	0.63880	0.993	D	0.70227	0.968	T	0.35574	-0.9783	10	0.26408	T	0.33	-5.5924	14.1885	0.65623	0.0:0.0:0.0:1.0	.	150	P16401	H15_HUMAN	R	150	ENSP00000330074:K150R	ENSP00000330074:K150R	K	-	2	0	HIST1H1B	27942838	1.000000	0.71417	0.828000	0.32881	0.957000	0.61999	6.302000	0.72788	2.103000	0.63969	0.533000	0.62120	AAG	HIST1H1B	-	NULL	ENSG00000184357		0.622	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1		0	34	0	T	NM_005322		27834859	-1			no_errors	ENST00000331442	ensembl	human	known	74_37	missense	55.88	14	19	SNP	0.999	C	C	27834859	T	C	27834859	3	2	141	1	0	0	0	0	1	0	0	0	7150	1609	56	4	235	4	HIST1H1B	6	27834859	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	1778552	27834859	143280208	85	35863											
C6orf15	29113	genome.wustl.edu	37	chr6	31079655	31079655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccttgggtgagaggcCtgtggcatcgggagaagact	9	8	17	7	1	0	4	0	2	0	3	1	6	0	4	2	4	1	1	2	4	2	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:31079655C>T	ENST00000259870.3	-	2	484	c.481G>A	c.(481-483)Ggc>Agc	p.G161S	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	161					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GGTGAGAGGCCTGTGGCATCG	0.622																																																	0													32	34	34					6																	31079655		1832	3614	5446	SO:0001583	missense	0			AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.481G>A	6.37:g.31079655C>T	ENSP00000259870:p.Gly161Ser		B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	NULL	p.G161S	ENST00000259870.3	37	c.481	CCDS4693.1	6	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527077	0.27299	.	.	ENSG00000204542	ENST00000259870	T	0.05786	3.39	4.73	2.77	0.32553	.	1.239520	0.05845	N	0.619985	T	0.01320	0.0043	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.44513	-0.9323	10	0.10377	T	0.69	-0.8395	4.9107	0.13820	0.0:0.503:0.3572:0.1398	.	161	Q6UXA7	CF015_HUMAN	S	161	ENSP00000259870:G161S	ENSP00000259870:G161S	G	-	1	0	C6orf15	31187634	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.657000	0.05335	1.179000	0.42884	0.643000	0.83706	GGC	C6orf15	-	NULL	ENSG00000204542		0.622	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf15	HGNC	protein_coding	OTTHUMT00000076184.2		0	36	0	C	NM_014070		31079655	-1			no_errors	ENST00000259870	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.001	T	T	31079655	C	T	31079655	3	4	141	1	0	0	0	0	1	0	0	0	2343	681	24	3	500	3	C6orf15	6	31079655	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	3244796	31079655	140035412	86	35864											
MSH5	4439	genome.wustl.edu	37	chr6	31708323	31708323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccggcttccccagccCggccccagtgccgggcccca	3	5	10	23	3	0	0	0	0	0	0	3	0	3	0	10	3	2	1	10	3	0	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:31708323C>T	ENST00000375755.3	+	2	366	c.80C>T	c.(79-81)cCg>cTg	p.P27L	CLIC1_ENST00000395892.1_5'Flank|MSH5_ENST00000375750.3_Missense_Mutation_p.P27L|MSH5_ENST00000375742.3_Missense_Mutation_p.P27L|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375703.3_Missense_Mutation_p.P27L|MSH5_ENST00000534153.4_Missense_Mutation_p.P27L|MSH5_ENST00000375740.3_Missense_Mutation_p.P27L|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.P27L	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	27					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						TTCCCCAGCCCGGCCCCAGTG	0.672								Direct reversal of damage;Mismatch excision repair (MMR)																																									0													5	6	6					6																	31708323		2037	4072	6109	SO:0001583	missense	0			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.80C>T	6.37:g.31708323C>T	ENSP00000364908:p.Pro27Leu		B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.P27L	ENST00000375755.3	37	c.80	CCDS4720.1	6	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304380	0.40795	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000425703;ENST00000534153;ENST00000375703;ENST00000375740	T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25	4.53	1.78	0.24846	.	0.730042	0.12392	N	0.472941	T	0.11836	0.0288	L	0.40543	1.245	0.26415	N	0.976198	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.08055	0.003;0.0;0.001;0.003	T	0.11494	-1.0585	9	0.46703	T	0.11	-14.295	6.7465	0.23464	0.0:0.7017:0.0:0.2983	.	27;27;27;27	O43196-4;O43196;O43196-2;O43196-3	.;MSH5_HUMAN;.;.	L	27	ENSP00000364908:P27L;ENSP00000364894:P27L;ENSP00000364903:P27L;ENSP00000402842:P27L;ENSP00000431693:P27L;ENSP00000364855:P27L;ENSP00000364892:P27L	ENSP00000364855:P27L	P	+	2	0	MSH5	31816302	0.000000	0.05858	0.053000	0.19242	0.228000	0.25075	-0.077000	0.11394	0.272000	0.22027	0.655000	0.94253	CCG	MSH5	-	NULL	ENSG00000204410		0.672	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	HGNC	protein_coding	OTTHUMT00000076243.4		0	18	0	C			31708323	1			no_errors	ENST00000375742	ensembl	human	known	74_37	missense	50.00	13	13	SNP	0.008	T	T	31708323	C	T	31708323	3	4	141	1	0	0	0	0	1	0	0	0	9911	652	23	1	82	1	MSH5	6	31708323	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	628668	31708323	139406744	87	35865											
DST	667	genome.wustl.edu	37	chr6	56365979	56365979	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagccatgccaggagctCatccagggcatgttggaact	9	9	12	11	0	2	0	2	0	0	0	3	2	3	2	3	3	4	3	3	3	1	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:56365979C>A	ENST00000361203.3	-	75	18842	c.18835G>T	c.(18835-18837)Gag>Tag	p.E6279*	DST_ENST00000370769.4_Nonsense_Mutation_p.E6390*|DST_ENST00000370754.5_Nonsense_Mutation_p.E6568*|DST_ENST00000244364.6_Nonsense_Mutation_p.E3976*|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Nonsense_Mutation_p.E4193*|DST_ENST00000446842.2_Nonsense_Mutation_p.E6064*|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.E4302*			Q03001	DYST_HUMAN	dystonin	6278					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)	p.E6390K(1)		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)			GCCAGGAGCTCATCCAGGGCA	0.443																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											75	70	71					6																	56365979		1890	4121	6011	SO:0001587	stop_gained	0			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.18835G>T	6.37:g.56365979C>A	ENSP00000354508:p.Glu6279*		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	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.E6568*	ENST00000361203.3	37	c.19702		6	.	.	.	.	.	.	.	.	.	.	C	58	31.254853	0.99978	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.88	5.88	0.94601	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.2141	0.98291	0.0:1.0:0.0:0.0	.	.	.	.	X	3976;6568;6390;4302;6064;4193;6279	.	ENSP00000244364:E3976X	E	-	1	0	DST	56473938	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.815000	0.86186	2.773000	0.95371	0.591000	0.81541	GAG	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.443	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0	65	0	C	NM_001723		56365979	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	nonsense	5.17	55	3	SNP	1.000	A	A	56365979	C	A	56365979	4	1	141	1	0	0	0	0	0	1	0	0	4797	835	29	3	3685	3	DST	6	56365979	Nonsense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	24657656	56365979	114749088	88	35866											
KCNQ5	56479	genome.wustl.edu	37	chr6	73904395	73904395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactagtgccaacatctcgaGaggcctgcagttcattctga	11	10	9	11	1	3	2	1	1	2	1	4	3	3	2	2	1	4	2	2	1	3	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:73904395G>T	ENST00000370398.1	+	14	2166	c.2057G>T	c.(2056-2058)aGa>aTa	p.R686I	KCNQ5_ENST00000342056.2_Missense_Mutation_p.R705I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R677I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R686I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R687I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R576I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R696I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	686					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)	AACATCTCGAGAGGCCTGCAG	0.488																																					GBM(142;1375 1859 14391 23261 44706)												0													117	119	119					6																	73904395		2203	4300	6503	SO:0001583	missense	0			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.2057G>T	6.37:g.73904395G>T	ENSP00000359425:p.Arg686Ile		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R696I	ENST00000370398.1	37	c.2087	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098834	0.56183	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99474	-5.71;-5.72;-5.72;-5.71;-5.72;-5.75;-5.97	5.32	5.32	0.75619	.	0.075966	0.52532	D	0.000067	D	0.99067	0.9680	M	0.61703	1.905	0.50171	D	0.999859	P;P;B;P;B	0.52692	0.955;0.534;0.004;0.948;0.346	P;P;B;P;B	0.52957	0.714;0.454;0.004;0.66;0.163	D	0.99744	1.1016	10	0.59425	D	0.04	.	18.9881	0.92780	0.0:0.0:1.0:0.0	.	576;696;705;677;686	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	I	705;705;686;686;696;687;677;576	ENSP00000345055:R705I;ENSP00000347326:R686I;ENSP00000359425:R686I;ENSP00000385501:R696I;ENSP00000347853:R687I;ENSP00000384453:R677I;ENSP00000409861:R576I	ENSP00000345055:R705I	R	+	2	0	KCNQ5	73961116	1.000000	0.71417	0.350000	0.25708	0.868000	0.49771	9.193000	0.94954	2.486000	0.83907	0.561000	0.74099	AGA	KCNQ5	-	NULL	ENSG00000185760		0.488	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3		0	34	0	G	NM_019842		73904395	1			no_errors	ENST00000402622	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.982	T	T	73904395	G	T	73904395	3	4	141	1	0	0	0	0	1	0	0	0	8113	942	33	3	2172	3	KCNQ5	6	73904395	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	17538416	73904395	97210672	89	35867											
SLC22A16	85413	genome.wustl.edu	37	chr6	110763546	110763546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgaaccagattagccaaaCggtaagtgtccttttcgtaa	13	11	9	8	2	0	2	0	1	0	1	2	2	1	2	3	1	3	2	3	1	5	5	rs149834139		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:110763546C>A	ENST00000368919.3	-	4	1150	c.1084G>T	c.(1084-1086)Gtt>Ttt	p.V362F	SLC22A16_ENST00000439654.1_Missense_Mutation_p.V362F|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000330550.4_Missense_Mutation_p.V328F	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	362					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.V362I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	ATTAGCCAAACGGTAAGTGTC	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											117	115	116					6																	110763546		2203	4300	6503	SO:0001583	missense	0				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1084G>T	6.37:g.110763546C>A	ENSP00000357915:p.Val362Phe		O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V362F	ENST00000368919.3	37	c.1084	CCDS5084.1	6	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092415	0.55968	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.74737	0.32;0.32;0.32;0.32;0.32;-0.87	4.78	-6.67	0.01783	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.881639	0.09911	N	0.739817	T	0.66626	0.2808	M	0.65975	2.015	0.24646	N	0.993546	D;D	0.60160	0.987;0.984	P;P	0.62014	0.897;0.835	T	0.66834	-0.5823	10	0.66056	D	0.02	.	7.2502	0.26146	0.0:0.3758:0.27:0.3542	.	362;328	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	F	362;279;328;362;192;319	ENSP00000357915:V362F;ENSP00000395642:V279F;ENSP00000328583:V328F;ENSP00000408799:V362F;ENSP00000409306:V192F;ENSP00000416310:V319F	ENSP00000328583:V328F	V	-	1	0	SLC22A16	110870239	0.036000	0.19791	0.000000	0.03702	0.112000	0.19704	0.163000	0.16520	-1.787000	0.01268	0.655000	0.94253	GTT	SLC22A16	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000004809		0.418	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	HGNC	protein_coding	OTTHUMT00000043428.1		0	65	0	C	NM_033125		110763546	-1			no_errors	ENST00000368919	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.002	A	A	110763546	C	A	110763546	3	1	141	1	0	0	0	0	1	0	0	0	14492	536	19	2	669	2	SLC22A16	6	110763546	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	36859151	110763546	60351521	90	35868											
SYNE1	23345	genome.wustl.edu	37	chr6	152652864	152652864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	accaacgttgctctaaatgaCtcgtctgttctttgactaac	10	14	6	11	2	3	2	0	2	3	0	4	2	3	2	1	0	3	3	1	0	4	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:152652864C>G	ENST00000367255.5	-	78	13557	c.12956G>C	c.(12955-12957)aGt>aCt	p.S4319T	SYNE1_ENST00000341594.5_Missense_Mutation_p.S4184T|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4248T|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4319T|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4248T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4319					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)		CTCTAAATGACTCGTCTGTTC	0.398										HNSCC(10;0.0054)																																							0													136	127	130					6																	152652864		2203	4300	6503	SO:0001583	missense	0			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.12956G>C	6.37:g.152652864C>G	ENSP00000356224:p.Ser4319Thr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4319T	ENST00000367255.5	37	c.12956	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	7.034	0.561167	0.13498	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.99	3.22	0.36961	.	0.423542	0.24915	N	0.034591	T	0.10852	0.0265	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.31548	0.328;0.112;0.112;0.178	B;B;B;B	0.29785	0.107;0.036;0.036;0.073	T	0.29305	-1.0016	10	0.12766	T	0.61	.	9.6153	0.39687	0.0:0.7563:0.117:0.1266	.	4319;4319;4319;4248	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	4319;4248;4319;4248;4184	ENSP00000356224:S4319T;ENSP00000396024:S4248T;ENSP00000265368:S4319T;ENSP00000390975:S4248T;ENSP00000341887:S4184T	ENSP00000265368:S4319T	S	-	2	0	SYNE1	152694557	0.097000	0.21791	0.181000	0.23098	0.964000	0.63967	3.271000	0.51608	0.405000	0.25532	0.655000	0.94253	AGT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	54	0	C	NM_182961		152652864	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	31.34	46	21	SNP	0.230	G	G	152652864	C	G	152652864	3	3	141	1	0	0	0	0	1	0	0	0	15492	565	20	5	13786	5	SYNE1	6	152652864	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	41889318	152652864	18462203	91	35869											
ARID1B	57492	genome.wustl.edu	37	chr6	157522154	157522154	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatatgccttatccctacCagaacaggcagggccctggc	10	8	10	13	0	0	2	0	1	0	1	1	2	1	2	4	3	3	1	4	3	4	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:157522154C>T	ENST00000350026.5	+	17	4388	c.4387C>T	c.(4387-4389)Cag>Tag	p.Q1463*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1458*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1516*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q1476*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1463	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTATCCCTACCAGAACAGGCA	0.587																																																	0													52	57	55					6																	157522154		2203	4296	6499	SO:0001587	stop_gained	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4387C>T	6.37:g.157522154C>T	ENSP00000055163:p.Gln1463*		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q1516*	ENST00000350026.5	37	c.4546	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	C	44	10.627280	0.99440	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.08	5.08	0.68730	.	0.188954	0.47455	D	0.000235	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8669	0.92296	0.0:1.0:0.0:0.0	.	.	.	.	X	1476;1463;1516;1458;985	.	ENSP00000275248:Q1458X	Q	+	1	0	ARID1B	157563846	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.605000	0.67634	2.528000	0.85240	0.591000	0.81541	CAG	ARID1B	-	NULL	ENSG00000049618		0.587	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1		0	19	0	C	NM_020732		157522154	1			no_errors	ENST00000367148	ensembl	human	known	74_37	nonsense	19.35	25	6	SNP	1.000	T	T	157522154	C	T	157522154	4	4	141	1	0	0	0	0	0	1	0	0	914	595	21	3	4496	3	ARID1B	6	157522154	Nonsense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	4869290	157522154	13592913	92	35870											
DNAH11	8701	genome.wustl.edu	37	chr7	21641052	21641052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttataaaggagacagattCcggacttcagagagaattaa	17	10	9	5	1	1	4	1	0	0	4	2	7	2	5	1	2	0	0	1	2	5	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:21641052C>A	ENST00000409508.3	+	18	3495	c.3464C>A	c.(3463-3465)tCc>tAc	p.S1155Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.S1155Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1155	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGACAGATTCCGGACTTCAG	0.338									Kartagener syndrome																																								0													78	76	77					7																	21641052		1813	4079	5892	SO:0001583	missense	0	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.3464C>A	7.37:g.21641052C>A	ENSP00000475939:p.Ser1155Tyr		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S1155Y	ENST00000409508.3	37	c.3464		7	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881686	0.17467	.	.	ENSG00000105877	ENST00000328843	T	0.24151	1.87	5.7	0.572	0.17357	.	1.156720	0.06135	N	0.671301	T	0.23210	0.0561	.	.	.	0.09310	N	1	B	0.16166	0.016	B	0.15484	0.013	T	0.38607	-0.9653	9	0.59425	D	0.04	.	12.4581	0.55716	0.0:0.4829:0.4539:0.0632	.	1155	Q96DT5	DYH11_HUMAN	Y	1155	ENSP00000330671:S1155Y	ENSP00000330671:S1155Y	S	+	2	0	DNAH11	21607577	0.001000	0.12720	0.035000	0.18076	0.592000	0.36648	0.255000	0.18333	-0.168000	0.10853	-0.181000	0.13052	TCC	DNAH11	-	NULL	ENSG00000105877		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6		0	66	0	C	NM_003777		21641052	1			no_errors	ENST00000328843	ensembl	human	known	74_37	missense	33.72	57	29	SNP	0.114	A	A	21641052	C	A	21641052	3	1	141	1	0	0	0	0	1	0	0	0	4613	855	30	3	3534	3	DNAH11	7	21641052	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09		21641052	137497611	93	35871											
PCLO	27445	genome.wustl.edu	37	chr7	82532030	82532030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgaggaaagatgtagtGcatagttttcccgttcatct	9	14	11	7	2	2	2	1	1	1	1	3	3	3	3	1	1	2	4	1	1	3	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:82532030G>T	ENST00000333891.9	-	9	13802	c.13465C>A	c.(13465-13467)Cac>Aac	p.H4489N	PCLO_ENST00000423517.2_Missense_Mutation_p.H4489N	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						AAGATGTAGTGCATAGTTTTC	0.303																																																	0													189	171	176					7																	82532030		1836	4089	5925	SO:0001583	missense	0			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.13465C>A	7.37:g.82532030G>T	ENSP00000334319:p.His4489Asn			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.H4489N	ENST00000333891.9	37	c.13465	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405392	0.25378	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15834	2.39;2.39	5.55	5.55	0.83447	.	.	.	.	.	T	0.28830	0.0715	L	0.50333	1.59	0.80722	D	1	B;B	0.34015	0.435;0.435	B;B	0.43536	0.423;0.423	T	0.02805	-1.1108	9	0.87932	D	0	.	19.512	0.95146	0.0:0.0:1.0:0.0	.	4489;4489	Q9Y6V0-5;Q9Y6V0-6	.;.	N	4489	ENSP00000334319:H4489N;ENSP00000388393:H4489N	ENSP00000334319:H4489N	H	-	1	0	PCLO	82369966	1.000000	0.71417	0.958000	0.39756	0.312000	0.27988	6.119000	0.71590	2.624000	0.88883	0.467000	0.42956	CAC	PCLO	-	superfamily_PDZ	ENSG00000186472		0.303	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5		0	80	0	G	NM_014510		82532030	-1			no_errors	ENST00000333891	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.996	T	T	82532030	G	T	82532030	3	4	141	1	0	0	0	0	1	0	0	0	11622	1319	46	3	2048	3	PCLO	7	82532030	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	60890978	82532030	76606633	94	35872											
SAMD9	54809	genome.wustl.edu	37	chr7	92734549	92734549	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtaaaacttccacaaatcTtggctctcgaatgcacttct	12	12	5	12	1	3	0	0	0	3	0	5	1	4	0	1	1	2	3	1	1	4	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:92734549T>G	ENST00000379958.2	-	3	1131	c.862A>C	c.(862-864)Aga>Cga	p.R288R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	288						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)			TCCACAAATCTTGGCTCTCGA	0.358																																																	0													130	128	129					7																	92734549		2203	4300	6503	SO:0001819	synonymous_variant	0			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.862A>C	7.37:g.92734549T>G			A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.R288	ENST00000379958.2	37	c.862	CCDS34680.1	7																																																																																			SAMD9	-	NULL	ENSG00000205413		0.358	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1		0	40	0	T	NM_017654		92734549	-1			no_errors	ENST00000379958	ensembl	human	known	74_37	silent	45.45	18	15	SNP	1.000	G	G	92734549	T	G	92734549	2	3	141	1	0	0	0	0	0	0	0	1	13871	1617	56	4		4	SAMD9	7	92734549	Silent	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	10202519	92734549	66404114	95	35873											
MUC17	140453	genome.wustl.edu	37	chr7	100685498	100685498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacaccttccactccttctGttgacagaagcacacctgtg	9	10	7	15	0	1	2	0	1	1	1	3	2	3	2	4	0	1	3	4	0	1	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:100685498G>T	ENST00000306151.4	+	3	10865	c.10801G>T	c.(10801-10803)Gtt>Ttt	p.V3601F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3601	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)					CACTCCTTCTGTTGACAGAAG	0.463																																																	0													162	152	155					7																	100685498		2203	4300	6503	SO:0001583	missense	0			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.10801G>T	7.37:g.100685498G>T	ENSP00000302716:p.Val3601Phe		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.V3601F	ENST00000306151.4	37	c.10801	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	7.555	0.663456	0.14710	.	.	ENSG00000169876	ENST00000306151	T	0.02395	4.31	1.78	-2.51	0.06365	.	.	.	.	.	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	1	D	0.55605	0.972	D	0.79784	0.993	T	0.39313	-0.9620	9	0.56958	D	0.05	.	3.829	0.08867	0.3007:0.2127:0.4866:0.0	.	3601	Q685J3	MUC17_HUMAN	F	3601	ENSP00000302716:V3601F	ENSP00000302716:V3601F	V	+	1	0	MUC17	100472218	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.916000	0.01576	-0.471000	0.06891	0.186000	0.17326	GTT	MUC17	-	NULL	ENSG00000169876		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1		0	94	0	G	NM_001040105		100685498	1			no_errors	ENST00000306151	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.000	T	T	100685498	G	T	100685498	3	4	141	1	0	0	0	0	1	0	0	0	10012	1377	48	3	10811	3	MUC17	7	100685498	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	7950949	100685498	58453165	96	35874											
OR2F1	26211	genome.wustl.edu	37	chr7	143657735	143657735	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatccagatcatctccacCatcctaaagatccagtccag	13	9	4	15	0	2	2	1	0	1	2	7	2	6	2	6	0	1	0	6	0	3	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:143657735C>T	ENST00000392899.1	+	1	709	c.672C>T	c.(670-672)acC>acT	p.T224T	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)	224					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)					TCATCTCCACCATCCTAAAGA	0.488																																																	0													191	172	178					7																	143657735		2203	4300	6503	SO:0001819	synonymous_variant	0			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.672C>T	7.37:g.143657735C>T			A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T224	ENST00000392899.1	37	c.672	CCDS5887.1	7																																																																																			OR2F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000213215		0.488	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F1	HGNC	protein_coding	OTTHUMT00000349581.1		0	53	0	C			143657735	1			no_errors	ENST00000392899	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.005	T	T	143657735	C	T	143657735	2	4	141	1	0	0	0	0	0	0	0	1	11035	581	21	3		3	OR2F1	7	143657735	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	42972237	143657735	15480928	97	35875											
OR2A1	346528	genome.wustl.edu	37	chr7	144015576	144015576	+	Missense_Mutation	SNP	A	A	G	1	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	gctggtgctgatgtcctacgAtcgttacgtggccatctgcc	5	12	12	12	3	1	1	0	1	1	0	3	2	2	1	3	2	4	3	3	2	2	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:144015576A>G	ENST00000408951.1	+	1	359	c.359A>G	c.(358-360)gAt>gGt	p.D120G	OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					ATGTCCTACGATCGTTACGTG	0.567																																																	0													52	55	54					7																	144015576		2168	4278	6446	SO:0001583	missense	0				CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"GPCR / Class A : Olfactory receptors"	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.359A>G	7.37:g.144015576A>G	ENSP00000386175:p.Asp120Gly		Q6IF44|Q96R46	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D120G	ENST00000408951.1	37	c.359	CCDS43673.1	7	.	.	.	.	.	.	.	.	.	.	a	13.02	2.113865	0.37339	.	.	ENSG00000221970	ENST00000408951	T	0.55588	0.51	2.96	2.96	0.34315	.	0.000000	0.33327	U	0.005035	T	0.77725	0.4173	H	0.96943	3.91	0.41345	D	0.987325	.	.	.	.	.	.	T	0.82472	-0.0440	8	0.87932	D	0	.	9.2952	0.37811	1.0:0.0:0.0:0.0	.	.	.	.	G	120	ENSP00000386175:D120G	ENSP00000386175:D120G	D	+	2	0	OR2A1	143646509	1.000000	0.71417	0.248000	0.24265	0.085000	0.17905	8.782000	0.91809	1.338000	0.45544	0.402000	0.26972	GAT	OR2A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000221970		0.567	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A1	HGNC	protein_coding	OTTHUMT00000349985.1		0	97	0	A			144015576	1			no_errors	ENST00000408951	ensembl	human	known	74_37	missense	9.62	94	10	SNP	0.997	G	G	144015576	A	G	144015576	3	3	141	1	0	0	0	0	1	0	0	0	11013	333	12	4	361	4	OR2A1	7	144015576	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	357841	144015576	15123087	98	35876											
ADRA1A	148	genome.wustl.edu	37	chr8	26721982	26721982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggtctcgtcctcgggggCcggctgcctccagccgaaca	5	7	14	15	4	1	0	0	0	1	0	5	2	3	0	5	4	3	1	5	4	1	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:26721982C>A	ENST00000519229.1	-	1	511	c.505G>T	c.(505-507)Gcc>Tcc	p.A169S	ADRA1A_ENST00000354550.4_Missense_Mutation_p.A169S|ADRA1A_ENST00000380573.3_Missense_Mutation_p.A169S|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A169S|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A169S|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A169S|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A169S|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A169S|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A169S|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A169S			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	239					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)	TCCTCGGGGGCCGGCTGCCTC	0.627																																																	0													34	39	37					8																	26721982		2203	4300	6503	SO:0001583	missense	0			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.505G>T	8.37:g.26721982C>A	ENSP00000430793:p.Ala169Ser		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.A169S	ENST00000519229.1	37	c.505		8	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400360	0.42613	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.35	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.206220	0.42420	D	0.000717	T	0.32852	0.0843	L	0.31664	0.95	0.49483	D	0.999794	P;P;B;P;P;B	0.39940	0.486;0.486;0.146;0.696;0.493;0.361	B;B;B;B;B;B	0.42462	0.333;0.333;0.3;0.273;0.116;0.388	T	0.11348	-1.0591	10	0.45353	T	0.12	.	16.3193	0.82939	0.0:0.8679:0.1321:0.0	.	169;169;169;169;169;169	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	S	169	ENSP00000369960:A169S;ENSP00000369961:A169S;ENSP00000369956:A169S;ENSP00000369955:A169S;ENSP00000430793:A169S;ENSP00000346557:A169S;ENSP00000276393:A169S;ENSP00000369947:A169S;ENSP00000369946:A169S;ENSP00000351725:A169S	ENSP00000276393:A169S	A	-	1	0	ADRA1A	26777899	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	3.113000	0.50376	2.646000	0.89796	0.558000	0.71614	GCC	ADRA1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000120907		0.627	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1		0	16	0	C	NM_033303		26721982	-1			no_errors	ENST00000380586	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.998	A	A	26721982	C	A	26721982	3	1	141	1	0	0	0	0	1	0	0	0	334	739	26	3	1194	3	ADRA1A	8	26721982	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09		26721982	119642040	99	35877											
GPR124	25960	genome.wustl.edu	37	chr8	37691252	37691252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctggctcaccagctgcGcgtgtacacagccgaggccg	7	5	13	16	4	1	0	1	0	0	0	1	2	1	0	4	2	4	3	4	2	1	1	rs148143932		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:37691252G>A	ENST00000412232.2	+	10	1356	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	GPR124_ENST00000315215.7_Missense_Mutation_p.R448H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	448					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)			CACCAGCTGCGCGTGTACACA	0.532																																																	0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	104	97	99		1343	4.5	1	8	dbSNP_134	99	0,8600		0,0,4300	no	missense	GPR124	NM_032777.9	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	448/1339	37691252	2,13004	2203	4300	6503	SO:0001583	missense	0			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.1343G>A	8.37:g.37691252G>A	ENSP00000406367:p.Arg448His		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.R448H	ENST00000412232.2	37	c.1343	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597564	0.46318	4.54E-4	0.0	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.42900	0.96;0.96	4.51	4.51	0.55191	.	0.075113	0.56097	D	0.000040	T	0.57388	0.2050	L	0.54323	1.7	0.50171	D	0.999851	D;D	0.89917	0.999;1.0	D;D	0.79784	0.974;0.993	T	0.52132	-0.8616	10	0.14656	T	0.56	-9.9222	17.2164	0.86945	0.0:0.0:1.0:0.0	.	448;448	Q96PE1-2;Q96PE1	.;GP124_HUMAN	H	441;448;448	ENSP00000323508:R448H;ENSP00000406367:R448H	ENSP00000323508:R448H	R	+	2	0	GPR124	37810410	1.000000	0.71417	0.985000	0.45067	0.115000	0.19883	3.811000	0.55620	2.064000	0.61679	0.561000	0.74099	CGC	GPR124	-	NULL	ENSG00000020181		0.532	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2		0	35	0	G			37691252	1			no_errors	ENST00000412232	ensembl	human	known	74_37	missense	23.08	30	9	SNP	0.989	A	A	37691252	G	A	37691252	3	1	141	1	0	0	0	0	1	0	0	0	6664	1087	38	1	1360	1	GPR124	8	37691252	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	10969270	37691252	108672770	100	35878											
TTPA	7274	genome.wustl.edu	37	chr8	63976767	63976767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatatattttactcacccGttccttaattttttcagtca	10	19	3	9	1	3	1	3	1	0	0	4	1	4	1	2	0	1	1	2	0	5	9	rs35916840	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:63976767G>A	ENST00000260116.4	-	4	692	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	221	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.		R -> W (in AVED; dbSNP:rs35916840). {ECO:0000269|PubMed:9463307}.		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(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TTACTCACCCGTTCCTTAATT	0.368																																																	0			GRCh37	CM981967	TTPA	M	rs35916840						84	83	84					8																	63976767		2203	4300	6503	SO:0001583	missense	0			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"ataxia (Friedreich-like) with vitamin E deficiency"	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.661C>T	8.37:g.63976767G>A	ENSP00000260116:p.Arg221Trp		Q71V64	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R221W	ENST00000260116.4	37	c.661	CCDS6178.1	8	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936781	0.52972	.	.	ENSG00000137561	ENST00000260116	D	0.87650	-2.28	5.21	5.21	0.72293	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.95598	0.8569	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96768	0.9566	10	0.87932	D	0	.	18.7645	0.91866	0.0:0.0:1.0:0.0	rs35916840	221	P49638	TTPA_HUMAN	W	221	ENSP00000260116:R221W	ENSP00000260116:R221W	R	-	1	2	TTPA	64139321	1.000000	0.71417	0.943000	0.38184	0.151000	0.21798	3.961000	0.56759	2.433000	0.82419	0.591000	0.81541	CGG	TTPA	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000137561		0.368	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	HGNC	protein_coding	OTTHUMT00000378460.1		0	56	0	G	NM_000370		63976767	-1			no_errors	ENST00000260116	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.997	A	A	63976767	G	A	63976767	3	1	141	1	0	0	0	0	1	0	0	0	16785	1144	40	1	183	1	TTPA	8	63976767	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	26285515	63976767	82387255	101	35879											
CDH17	1015	genome.wustl.edu	37	chr8	95189941	95189941	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcacagcaggaggattGgccttaaactggggaaaaag	16	6	13	6	0	1	0	1	0	0	0	1	3	1	3	1	5	2	1	1	5	5	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:95189941G>C	ENST00000027335.3	-	4	283	c.159C>G	c.(157-159)gcC>gcG	p.A53A	CDH17_ENST00000450165.2_Silent_p.A53A|CDH17_ENST00000441892.2_Silent_p.A53A	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	53	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAGGAGGATTGGCCTTAAACT	0.393																																																	0													92	87	89					8																	95189941		2203	4300	6503	SO:0001819	synonymous_variant	0			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.159C>G	8.37:g.95189941G>C			Q15336|Q2M2E0	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A53	ENST00000027335.3	37	c.159	CCDS6260.1	8																																																																																			CDH17	-	superfamily_Cadherin-like,smart_Cadherin	ENSG00000079112		0.393	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1		0	63	0	G	NM_004063		95189941	-1			no_errors	ENST00000027335	ensembl	human	known	74_37	silent	8.20	56	5	SNP	0.052	C	C	95189941	G	C	95189941	2	2	141	1	0	0	0	0	0	0	0	1	3109	1335	47	5		5	CDH17	8	95189941	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	31213174	95189941	51174081	102	35880											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110465006	110465006	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttctcatgggggggaaaAtctcccccagaagaaggatc	13	8	11	9	0	2	2	1	0	2	2	5	4	2	4	2	4	0	0	2	4	5	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:110465006A>C	ENST00000378402.5	+	43	6671	c.6567A>C	c.(6565-6567)aaA>aaC	p.K2189N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2189	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGGGGGAAAATCTCCCCCAG	0.388										HNSCC(38;0.096)																																							0													44	42	42					8																	110465006		1813	4076	5889	SO:0001583	missense	0			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.6567A>C	8.37:g.110465006A>C	ENSP00000367655:p.Lys2189Asn		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.K2189N	ENST00000378402.5	37	c.6567	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	A	5.941	0.357599	0.11239	.	.	ENSG00000205038	ENST00000378402	D	0.88818	-2.43	5.83	-3.25	0.05079	G8 domain (2);	1.007710	0.07968	N	0.983501	T	0.73369	0.3578	N	0.16903	0.455	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.58228	-0.7673	10	0.13108	T	0.6	.	2.5505	0.04748	0.215:0.2685:0.3856:0.1309	.	2189	Q86WI1	PKHL1_HUMAN	N	2189	ENSP00000367655:K2189N	ENSP00000367655:K2189N	K	+	3	2	PKHD1L1	110534182	0.000000	0.05858	0.000000	0.03702	0.572000	0.35998	-1.107000	0.03316	-0.443000	0.07180	0.477000	0.44152	AAA	PKHD1L1	-	pfam_G8_domain	ENSG00000205038		0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0	88	0	A	NM_177531		110465006	1			no_errors	ENST00000378402	ensembl	human	known	74_37	missense	16.85	74	15	SNP	0.000	C	C	110465006	A	C	110465006	3	2	141	1	0	0	0	0	1	0	0	0	12011	98	4	4	6737	4	PKHD1L1	8	110465006	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	15275065	110465006	35899016	103	35881											
CSMD3	114788	genome.wustl.edu	37	chr8	113348960	113348960	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccattcccagggggtactcTtacaagccaaaaacaatctt	13	9	7	12	0	2	0	0	0	2	0	3	0	3	0	3	2	4	1	3	2	6	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:113348960T>G	ENST00000297405.5	-	44	7184	c.6940A>C	c.(6940-6942)Aga>Cga	p.R2314R	CSMD3_ENST00000352409.3_Silent_p.R2244R|CSMD3_ENST00000455883.2_Silent_p.R2210R|CSMD3_ENST00000343508.3_Silent_p.R2274R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2314	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGGGTACTCTTACAAGCCAA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													114	110	112					8																	113348960		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6940A>C	8.37:g.113348960T>G			Q96PZ3	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R2314	ENST00000297405.5	37	c.6940	CCDS6315.1	8																																																																																			CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0	36	0	T	NM_052900		113348960	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	silent	31.91	32	15	SNP	1.000	G	G	113348960	T	G	113348960	2	3	141	1	0	0	0	0	0	0	0	1	3955	1617	56	4		4	CSMD3	8	113348960	Silent	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	2883954	113348960	33015062	104	35882											
CSMD3	114788	genome.wustl.edu	37	chr8	113363470	113363470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacatgtaatgtgagagtGaccctacataaacaaaatga	18	9	7	7	0	0	3	0	3	0	1	0	4	0	3	1	0	3	1	1	0	7	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:113363470G>T	ENST00000297405.5	-	40	6503	c.6259C>A	c.(6259-6261)Cac>Aac	p.H2087N	CSMD3_ENST00000352409.3_Missense_Mutation_p.H2017N|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1983N|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2047N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2087	Sushi 11. {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						ATGTGAGAGTGACCCTACATA	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													116	118	118					8																	113363470		2203	4293	6496	SO:0001583	missense	0			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.6259C>A	8.37:g.113363470G>T	ENSP00000297405:p.His2087Asn		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H2087N	ENST00000297405.5	37	c.6259	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916978	0.33815	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	4.32	4.32	0.51571	Complement control module (2);Sushi/SCR/CCP (3);	0.076027	0.53938	D	0.000058	T	0.55465	0.1922	N	0.04387	-0.21	0.43608	D	0.99597	B;B;D	0.58620	0.001;0.0;0.983	B;B;P	0.61397	0.005;0.006;0.888	T	0.56294	-0.8003	10	0.16420	T	0.52	.	17.3411	0.87296	0.0:0.0:1.0:0.0	.	1983;2087;2047	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	2047;2087;1357;1983;2017	ENSP00000345799:H2047N;ENSP00000297405:H2087N;ENSP00000341558:H1357N;ENSP00000412263:H1983N;ENSP00000343124:H2017N	ENSP00000297405:H2087N	H	-	1	0	CSMD3	113432646	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.557000	0.67313	2.380000	0.81148	0.650000	0.86243	CAC	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.299	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0	29	0	G	NM_052900		113363470	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	113363470	G	T	113363470	3	4	141	1	0	0	0	0	1	0	0	0	3955	1290	45	3	4992	3	CSMD3	8	113363470	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	14510	113363470	33000552	105	35883											
KCNQ3	3786	genome.wustl.edu	37	chr8	133184938	133184938	+	Silent	SNP	G	G	T	0	0	1	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	gccagcccggaccccaggatGccctggagggagaggcaggc	8	2	17	14	1	0	1	0	0	0	1	0	5	0	4	5	6	2	1	5	6	0	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:133184938G>T	ENST00000388996.4	-	7	1467	c.1047C>A	c.(1045-1047)ggC>ggA	p.G349G	KCNQ3_ENST00000521134.1_Silent_p.G229G|KCNQ3_ENST00000519445.1_Silent_p.G349G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	349					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)	ACCCCAGGATGCCCTGGAGGG	0.602																																																	0													95	79	84					8																	133184938		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1047C>A	8.37:g.133184938G>T			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.G349	ENST00000388996.4	37	c.1047	CCDS34943.1	8																																																																																			KCNQ3	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000184156		0.602	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2		0	24	0	G	NM_004519		133184938	-1			no_errors	ENST00000388996	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.970	T	T	133184938	G	T	133184938	2	4	141	1	0	0	0	0	0	0	0	1	8111	1306	46	3		3	KCNQ3	8	133184938	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	19821468	133184938	13179084	106	35884											
PYCRL	65263	genome.wustl.edu	37	chr8	144687987	144687987	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagatggtggtgccacccggGgtgcacacgtctgagcgcag	7	7	16	11	3	1	2	0	1	1	1	1	2	1	2	2	4	3	2	2	4	1	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:144687987G>A	ENST00000220966.6	-	6	773	c.744C>T	c.(742-744)acC>acT	p.T248T	PYCRL_ENST00000495276.1_5'UTR|RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000377579.3_Silent_p.T99T	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	236					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			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)	TGCCACCCGGGGTGCACACGT	0.701																																																	0													70	68	69					8																	144687987		2203	4299	6502	SO:0001819	synonymous_variant	0			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.744C>T	8.37:g.144687987G>A			B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.T248	ENST00000220966.6	37	c.744	CCDS6407.2	8																																																																																			PYCRL	-	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	ENSG00000104524		0.701	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCRL	HGNC	protein_coding	OTTHUMT00000347081.2		0	54	0	G	NM_023078		144687987	-1			no_errors	ENST00000220966	ensembl	human	known	74_37	silent	37.29	37	22	SNP	0.617	A	A	144687987	G	A	144687987	2	1	141	1	0	0	0	0	0	0	0	1	12902	1219	43	3		3	PYCRL	8	144687987	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	11503049	144687987	1676035	107	35885											
MPDZ	8777	genome.wustl.edu	37	chr9	13247762	13247762	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacgttctcgcagcttggTttgcaagcgctctgctgcat	5	12	10	14	3	2	0	0	0	2	0	3	0	2	0	1	1	5	8	1	1	1	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:13247762T>G	ENST00000319217.7	-	3	302	c.55A>C	c.(55-57)Acc>Ccc	p.T19P	MPDZ_ENST00000546205.1_Missense_Mutation_p.T19P|MPDZ_ENST00000541718.1_Missense_Mutation_p.T19P|MPDZ_ENST00000381015.4_Missense_Mutation_p.T19P|MPDZ_ENST00000536827.1_Missense_Mutation_p.T19P|MPDZ_ENST00000381022.2_Missense_Mutation_p.T19P|MPDZ_ENST00000447879.1_Missense_Mutation_p.T19P	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	19	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGCAGCTTGGTTTGCAAGCGC	0.488																																																	0													261	250	254					9																	13247762		1928	4146	6074	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.55A>C	9.37:g.13247762T>G	ENSP00000320006:p.Thr19Pro		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.T19P	ENST00000319217.7	37	c.55		9	.	.	.	.	.	.	.	.	.	.	T	11.78	1.739507	0.30774	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.11063	2.86;2.81;2.81;2.81;2.86;2.86;2.86	5.68	1.68	0.24146	.	0.663319	0.13167	N	0.408606	T	0.05593	0.0147	N	0.14661	0.345	0.80722	D	1	B;B;B	0.12630	0.006;0.005;0.005	B;B;B	0.08055	0.003;0.002;0.003	T	0.34153	-0.9840	10	0.31617	T	0.26	.	5.1634	0.15073	0.1453:0.6133:0.0:0.2414	.	19;19;19	B7ZMI4;O75970-3;O75970-2	.;.;.	P	19	ENSP00000320006:T19P;ENSP00000439807:T19P;ENSP00000370410:T19P;ENSP00000444151:T19P;ENSP00000415208:T19P;ENSP00000370403:T19P;ENSP00000446358:T19P	ENSP00000320006:T19P	T	-	1	0	MPDZ	13237762	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.356000	0.34079	0.301000	0.22738	-0.669000	0.03829	ACC	MPDZ	-	pfam_L27_2,pfscan_L27	ENSG00000107186		0.488	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2		0	51	0	T	NM_003829		13247762	-1			no_errors	ENST00000319217	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	G	G	13247762	T	G	13247762	3	3	141	1	0	0	0	0	1	0	0	0	9760	1725	60	4	6246	4	MPDZ	9	13247762	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09		13247762	127965669	108	35886											
DENND4C	55667	genome.wustl.edu	37	chr9	19336364	19336364	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	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	gtggcttggcacagtttaggCagccgcttaaaaagactgtg	10	10	13	8	1	0	1	0	0	0	1	0	1	0	1	1	3	1	5	1	3	4	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:19336364C>T	ENST00000380432.2	+	15	2011	c.1978C>T	c.(1978-1980)Cag>Tag	p.Q660*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.Q896*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.Q896*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	660					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						ACAGTTTAGGCAGCCGCTTAA	0.448																																																	0													83	74	77					9																	19336364		2203	4300	6503	SO:0001587	stop_gained	0			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.1978C>T	9.37:g.19336364C>T	ENSP00000369797:p.Gln660*		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.Q896*	ENST00000380432.2	37	c.2686		9	.	.	.	.	.	.	.	.	.	.	C	37	6.033921	0.97221	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000380432	.	.	.	5.98	5.06	0.68205	.	0.254751	0.41396	D	0.000892	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-5.0092	13.7809	0.63081	0.2794:0.7206:0.0:0.0	.	.	.	.	X	660;87;87	.	ENSP00000305795:Q87X	Q	+	1	0	DENND4C	19326364	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.071000	0.57556	1.499000	0.48617	0.585000	0.79938	CAG	DENND4C	-	NULL	ENSG00000137145		0.448	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding			0	43	0	C	NM_017925		19336364	1			no_errors	ENST00000602925	ensembl	human	known	74_37	nonsense	6.52	43	3	SNP	1.000	T	T	19336364	C	T	19336364	4	4	141	1	0	0	0	0	0	1	0	0	4449	711	25	3	2036	3	DENND4C	9	19336364	Nonsense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	6088602	19336364	121877067	109	35887											
TMEM8B	51754	genome.wustl.edu	37	chr9	35846965	35846965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgtgctggaagctgcagtCtacaccttcaccatgttctt	8	14	8	11	0	3	0	1	0	2	0	3	1	3	1	2	1	4	4	2	1	3	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:35846965C>T	ENST00000377991.4	+	11	1807	c.792C>T	c.(790-792)gtC>gtT	p.V264V	TMEM8B_ENST00000377988.2_Silent_p.V264V|TMEM8B_ENST00000439587.2_Silent_p.V264V|TMEM8B_ENST00000377996.1_Silent_p.V264V	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	264					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						AAGCTGCAGTCTACACCTTCA	0.542																																																	0													234	172	193					9																	35846965		2203	4300	6503	SO:0001819	synonymous_variant	0			BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma expressed 6"		"chromosome 9 open reading frame 127"	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.792C>T	9.37:g.35846965C>T			B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	pfam_DUF3522	p.V264	ENST00000377991.4	37	c.792	CCDS43800.1	9																																																																																			TMEM8B	-	pfam_DUF3522	ENSG00000137103		0.542	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8B	HGNC	protein_coding	OTTHUMT00000052388.2		0	66	0	C	NM_016446		35846965	1			no_errors	ENST00000377988	ensembl	human	known	74_37	silent	15.53	87	16	SNP	1.000	T	T	35846965	C	T	35846965	2	4	141	1	0	0	0	0	0	0	0	1	16262	900	32	3		3	TMEM8B	9	35846965	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	16510601	35846965	105366466	110	35888											
TLE4	7091	genome.wustl.edu	37	chr9	82267549	82267549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttatcacatggacatggtctCcccgtacctctgactccaca	9	11	6	15	1	3	1	1	1	2	0	5	2	4	2	4	2	1	1	4	2	2	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:82267549C>T	ENST00000376552.2	+	7	1450	c.432C>T	c.(430-432)ctC>ctT	p.L144L	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Silent_p.L144L|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Silent_p.L119L|TLE4_ENST00000376544.3_Silent_p.L144L|TLE4_ENST00000376520.4_Silent_p.L144L	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	144	Gly/Pro-rich (GP domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GACATGGTCTCCCCGTACCTC	0.557																																																	0													109	118	115					9																	82267549		2058	4189	6247	SO:0001819	synonymous_variant	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.432C>T	9.37:g.82267549C>T			F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.L144	ENST00000376552.2	37	c.432	CCDS43837.1	9																																																																																			TLE4	-	NULL	ENSG00000106829		0.557	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4		0	20	0	C	XM_212237		82267549	1			no_errors	ENST00000376520	ensembl	human	known	74_37	silent	19.05	17	4	SNP	0.988	T	T	82267549	C	T	82267549	2	4	141	1	0	0	0	0	0	0	0	1	15988	842	30	3		3	TLE4	9	82267549	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	46420584	82267549	58945882	111	35889											
DAPK1	1612	genome.wustl.edu	37	chr9	90322065	90322065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccccagccccctccacgCcctgctgcgggaatggacca	6	5	9	21	2	0	0	0	0	0	0	2	2	2	2	8	2	3	1	8	2	1	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:90322065C>T	ENST00000408954.3	+	26	4414	c.4079C>T	c.(4078-4080)gCc>gTc	p.A1360V	DAPK1_ENST00000469640.2_Missense_Mutation_p.A1385V|DAPK1_ENST00000491893.1_Missense_Mutation_p.A1294V|DAPK1_ENST00000358077.5_Missense_Mutation_p.A1360V|DAPK1_ENST00000472284.1_Missense_Mutation_p.A1360V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1360	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				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						CCCCTCCACGCCCTGCTGCGG	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													43	47	46					9																	90322065		1951	4128	6079	SO:0001583	missense	0	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.4079C>T	9.37:g.90322065C>T	ENSP00000386135:p.Ala1360Val		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.A1385V	ENST00000408954.3	37	c.4154	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455246	0.43634	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1	6.04	6.04	0.98038	Death (3);DEATH-like (2);	0.000000	0.51477	D	0.000087	D	0.86134	0.5860	L	0.33753	1.03	0.58432	D	0.999996	P;P;P	0.43578	0.811;0.705;0.811	P;B;P	0.45660	0.489;0.439;0.489	D	0.85596	0.1249	10	0.49607	T	0.09	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	1294;1360;1360	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	V	1360;1360;1385;1360;1294	ENSP00000350785:A1360V;ENSP00000417076:A1360V;ENSP00000418885:A1385V;ENSP00000386135:A1360V;ENSP00000419026:A1294V	ENSP00000350785:A1360V	A	+	2	0	DAPK1	89511885	0.991000	0.36638	0.984000	0.44739	0.262000	0.26303	2.944000	0.49034	2.873000	0.98535	0.563000	0.77884	GCC	DAPK1	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000196730		0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1		0	21	0	C	NM_004938		90322065	1			no_errors	ENST00000469640	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	90322065	C	T	90322065	3	4	141	1	0	0	0	0	1	0	0	0	4244	739	26	3	4177	3	DAPK1	9	90322065	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	8054516	90322065	50891366	112	35890											
FAM120A	23196	genome.wustl.edu	37	chr9	96326653	96326653	+	Missense_Mutation	SNP	A	A	G	1	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	cgaggagaagccggctccccAgatgaacgggagcacgggtg	10	3	17	11	4	0	3	0	1	0	2	1	6	1	4	3	4	3	2	3	4	2	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:96326653A>G	ENST00000277165.6	+	18	3382	c.3188A>G	c.(3187-3189)cAg>cGg	p.Q1063R	FAM120A_ENST00000333936.5_Missense_Mutation_p.Q1091R|AL353629.1_ENST00000582353.1_RNA|FAM120A_ENST00000340893.4_Missense_Mutation_p.Q1017R	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1063	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						CCGGCTCCCCAGATGAACGGG	0.517																																																	0													63	70	68					9																	96326653		2203	4300	6503	SO:0001583	missense	0			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.3188A>G	9.37:g.96326653A>G	ENSP00000277165:p.Gln1063Arg		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	NULL	p.Q1091R	ENST00000277165.6	37	c.3272	CCDS6706.1	9	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860169	0.51482	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.52983	1.29;1.27;1.18;0.64	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000009	T	0.55417	0.1919	N	0.24115	0.695	0.51767	D	0.999939	D;B;D	0.57899	0.981;0.372;0.981	D;B;D	0.70487	0.969;0.21;0.969	T	0.60826	-0.7186	10	0.72032	D	0.01	-6.9804	15.5024	0.75709	1.0:0.0:0.0:0.0	.	1017;1091;1063	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	R	1063;1091;1017;439	ENSP00000277165:Q1063R;ENSP00000334918:Q1091R;ENSP00000344698:Q1017R;ENSP00000412440:Q439R	ENSP00000277165:Q1063R	Q	+	2	0	FAM120A	95366474	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.860000	0.69546	2.069000	0.61940	0.482000	0.46254	CAG	FAM120A	-	NULL	ENSG00000048828		0.517	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2		0	27	0	A	NM_014612		96326653	1			no_errors	ENST00000333936	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	G	G	96326653	A	G	96326653	3	3	141	1	0	0	0	0	1	0	0	0	5434	188	7	4	3258	4	FAM120A	9	96326653	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	6004588	96326653	44886778	113	35891											
SMC2	10592	genome.wustl.edu	37	chr9	106885419	106885419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaaacagcagtgggagatGaaaactgaagaggcagattt	17	7	12	5	0	0	5	0	2	0	3	0	6	0	5	0	2	3	2	0	2	5	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:106885419G>A	ENST00000286398.7	+	17	2451	c.2163G>A	c.(2161-2163)atG>atA	p.M721I	SMC2_ENST00000303219.8_Missense_Mutation_p.M721I|SMC2_ENST00000374787.3_Missense_Mutation_p.M721I|SMC2_ENST00000374793.3_Missense_Mutation_p.M721I	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	721					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGTGGGAGATGAAAACTGAAG	0.353																																																	0													77	72	74					9																	106885419		2203	4300	6503	SO:0001583	missense	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2163G>A	9.37:g.106885419G>A	ENSP00000286398:p.Met721Ile		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.M721I	ENST00000286398.7	37	c.2163	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648869	0.47362	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78364	-1.09;-1.09;-1.17;-1.09	5.24	4.29	0.51040	.	0.097788	0.64402	D	0.000001	T	0.62877	0.2464	N	0.12182	0.205	0.39703	D	0.971215	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.003	T	0.60367	-0.7277	10	0.34782	T	0.22	-14.45	16.2317	0.82347	0.0:0.1451:0.8549:0.0	.	721;721	O95347;Q2KQ72	SMC2_HUMAN;.	I	721	ENSP00000286398:M721I;ENSP00000363925:M721I;ENSP00000306152:M721I;ENSP00000363919:M721I	ENSP00000286398:M721I	M	+	3	0	SMC2	105925240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.226000	0.72277	2.434000	0.82447	0.650000	0.86243	ATG	SMC2	-	superfamily_P-loop_NTPase	ENSG00000136824		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1		0	43	0	G			106885419	1			no_errors	ENST00000286398	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	A	A	106885419	G	A	106885419	3	1	141	1	0	0	0	0	1	0	0	0	14828	1290	45	3	2225	3	SMC2	9	106885419	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	10558766	106885419	34328012	114	35892											
ABCA1	19	genome.wustl.edu	37	chr9	107562106	107562106	+	Missense_Mutation	SNP	A	A	T	1	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	acagccacacttacagagccAcctctgagagctgctgcttg	10	8	9	14	0	1	2	0	1	1	2	1	3	1	2	3	0	6	3	3	0	1	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:107562106A>T	ENST00000374736.3	-	36	5331	c.4937T>A	c.(4936-4938)gTg>gAg	p.V1646E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1646					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)	TTACAGAGCCACCTCTGAGAG	0.498																																																	0													131	117	122					9																	107562106		2203	4300	6503	SO:0001583	missense	0			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.4937T>A	9.37:g.107562106A>T	ENSP00000363868:p.Val1646Glu		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V1646E	ENST00000374736.3	37	c.4937	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905299	0.72868	.	.	ENSG00000165029	ENST00000374736	D	0.86627	-2.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.86912	0.6047	L	0.41079	1.255	0.80722	D	1	B	0.33494	0.414	P	0.45449	0.481	D	0.83545	0.0098	10	0.22109	T	0.4	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	1646	O95477	ABCA1_HUMAN	E	1646	ENSP00000363868:V1646E	ENSP00000363868:V1646E	V	-	2	0	ABCA1	106601927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.333000	0.79357	0.533000	0.62120	GTG	ABCA1	-	NULL	ENSG00000165029		0.498	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1		0	66	0	A	NM_005502		107562106	-1			no_errors	ENST00000374736	ensembl	human	known	74_37	missense	20.29	54	14	SNP	1.000	T	T	107562106	A	T	107562106	3	4	141	1	0	0	0	0	1	0	0	0	28	159	6	5	1908	5	ABCA1	9	107562106	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	676687	107562106	33651325	115	35893											
SVEP1	79987	genome.wustl.edu	37	chr9	113168502	113168502	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gccactgcattggcgacagaCggtggggacccacaggacaa	11	4	14	12	2	0	1	0	0	0	1	0	4	0	3	2	5	1	1	2	5	1	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:113168502C>T	ENST00000401783.2	-	38	9714	c.9378G>A	c.(9376-9378)ccG>ccA	p.P3126P	SVEP1_ENST00000297826.5_Silent_p.P1052P|SVEP1_ENST00000374469.1_Silent_p.P3103P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3126	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGCGACAGACGGTGGGGACC	0.527																																																	0													114	120	118					9																	113168502		1994	4165	6159	SO:0001819	synonymous_variant	0			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.9378G>A	9.37:g.113168502C>T			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.P3126	ENST00000401783.2	37	c.9378	CCDS48004.1	9																																																																																			SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.527	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding			0	74	0	C			113168502	-1			no_errors	ENST00000401783	ensembl	human	known	74_37	silent	32.86	47	23	SNP	0.000	T	T	113168502	C	T	113168502	2	4	141	1	0	0	0	0	0	0	0	1	15467	523	19	1		1	SVEP1	9	113168502	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	5606396	113168502	28044929	116	35894											
SPTAN1	6709	genome.wustl.edu	37	chr9	131344063	131344063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtttcctttggcaaggcGttcctgttgaatgaagactt	7	17	10	7	1	0	3	0	2	0	1	2	3	2	3	2	2	0	4	2	2	3	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:131344063G>A	ENST00000372731.4	+	12	1574	c.1464G>A	c.(1462-1464)gcG>gcA	p.A488A	SPTAN1_ENST00000372739.3_Silent_p.A488A|SPTAN1_ENST00000358161.5_Silent_p.A488A	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	488					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A488A(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTGGCAAGGCGTTCCTGTTGA	0.408																																					NSCLC(120;833 1744 2558 35612 37579)												1	Substitution - coding silent(1)	large_intestine(1)											257	255	256					9																	131344063		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1464G>A	9.37:g.131344063G>A			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.A488	ENST00000372731.4	37	c.1464	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.408	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1		0	77	0	G	NM_003127		131344063	1			no_errors	ENST00000358161	ensembl	human	known	74_37	silent	32.31	44	21	SNP	0.950	A	A	131344063	G	A	131344063	2	1	141	1	0	0	0	0	0	0	0	1	15164	1132	40	1		1	SPTAN1	9	131344063	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	18175561	131344063	9869368	117	35895											
SETX	23064	genome.wustl.edu	37	chr9	135205659	135205659	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatctgtttggttgaggacTtctttgacttcagagtacag	8	15	11	7	0	3	3	1	2	2	1	3	4	3	4	0	2	1	4	0	2	1	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:135205659T>G	ENST00000224140.5	-	10	1508	c.1326A>C	c.(1324-1326)gaA>gaC	p.E442D	SETX_ENST00000393220.1_Missense_Mutation_p.E442D|SETX_ENST00000372169.2_Missense_Mutation_p.E442D	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	442					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)		GGTTGAGGACTTCTTTGACTT	0.378																																																	0													101	87	92					9																	135205659		2203	4300	6503	SO:0001583	missense	0			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.1326A>C	9.37:g.135205659T>G	ENSP00000224140:p.Glu442Asp		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.E442D	ENST00000224140.5	37	c.1326	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	T	2.911	-0.225394	0.06022	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.75704	-0.96;-0.96;-0.96	5.74	0.836	0.18891	.	0.061910	0.64402	N	0.000008	T	0.33527	0.0866	N	0.01048	-1.04	0.20638	N	0.999875	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40515	-0.9559	10	0.02654	T	1	.	4.9411	0.13965	0.6627:0.0:0.2104:0.127	.	442;442;442	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	D	442	ENSP00000224140:E442D;ENSP00000361242:E442D;ENSP00000376913:E442D	ENSP00000224140:E442D	E	-	3	2	SETX	134195480	0.863000	0.29885	1.000000	0.80357	0.946000	0.59487	0.224000	0.17738	0.114000	0.18032	-0.282000	0.10007	GAA	SETX	-	NULL	ENSG00000107290		0.378	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3		0	16	0	T	NM_015046		135205659	-1			no_errors	ENST00000372169	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	G	G	135205659	T	G	135205659	3	3	141	1	0	0	0	0	1	0	0	0	14186	1606	56	4	6775	4	SETX	9	135205659	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	3861596	135205659	6007772	118	35896											
LCN9	392399	genome.wustl.edu	37	chr9	138557177	138557177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaacttcaggaacgggaccGagacccacacgctggcgctc	11	4	12	14	4	1	2	1	0	0	2	2	5	1	4	2	3	2	2	2	3	2	1	rs374188235		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:138557177G>A	ENST00000277526.3	+	4	394	c.394G>A	c.(394-396)Gag>Aag	p.E132K	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	132						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GAACGGGACCGAGACCCACAC	0.632																																																	0								G	LYS/GLU	0,4222		0,0,2111	67	76	73		394	-5.8	0	9		73	2,8402		0,2,4200	no	missense	LCN9	NM_001001676.1	56	0,2,6311	AA,AG,GG		0.0238,0.0,0.0158	benign	132/177	138557177	2,12624	2111	4202	6313	SO:0001583	missense	0			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"Lipocalins"	17442	protein-coding gene	gene with protein product	"MUP-like lipocalin", "epididymal-specific lipocalin-9"	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.394G>A	9.37:g.138557177G>A	ENSP00000277526:p.Glu132Lys		C9J5F0|Q6JVE7	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Odour-bd,prints_Blactoglobulin	p.E132K	ENST00000277526.3	37	c.394	CCDS56593.1	9	.	.	.	.	.	.	.	.	.	.	G	4.920	0.170960	0.09391	0.0	2.38E-4	ENSG00000148386	ENST00000277526	T	0.07444	3.19	2.9	-5.8	0.02347	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	2.729430	0.01871	N	0.037208	T	0.04543	0.0124	L	0.27053	0.805	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.37407	-0.9707	10	0.09084	T	0.74	-1.1652	1.7734	0.03016	0.2825:0.3941:0.1892:0.1341	.	132	Q8WX39	LCN9_HUMAN	K	132	ENSP00000277526:E132K	ENSP00000277526:E132K	E	+	1	0	LCN9	137696998	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.429000	0.02437	-1.848000	0.01172	-0.379000	0.06801	GAG	LCN9	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000148386		0.632	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN9	HGNC	protein_coding	OTTHUMT00000410711.1		0	58	0	G	NM_001001676		138557177	1			no_errors	ENST00000277526	ensembl	human	known	74_37	missense	18.87	43	10	SNP	0.000	A	A	138557177	G	A	138557177	3	1	141	1	0	0	0	0	1	0	0	0	8715	1059	37	1	408	1	LCN9	9	138557177	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	3351518	138557177	2656254	119	35897											
ECHDC3	79746	genome.wustl.edu	37	chr10	11805265	11805265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgagcccatttctgccCaggaggccctgctccacggg	5	8	13	15	1	1	1	0	1	1	0	2	2	2	2	4	4	3	1	4	4	0	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr10:11805265C>A	ENST00000379215.4	+	5	845	c.634C>A	c.(634-636)Cag>Aag	p.Q212K	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	212						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CATTTCTGCCCAGGAGGCCCT	0.637																																																	0													73	59	64					10																	11805265		2203	4300	6503	SO:0001583	missense	0			AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.634C>A	10.37:g.11805265C>A	ENSP00000368517:p.Gln212Lys		Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.Q212K	ENST00000379215.4	37	c.634	CCDS7084.1	10	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807510	0.31961	.	.	ENSG00000134463	ENST00000379215;ENST00000422887	T;T	0.69306	-0.39;-0.39	5.47	5.47	0.80525	Crotonase, core (1);	0.313066	0.36134	N	0.002766	T	0.65893	0.2735	L	0.58302	1.8	0.40806	D	0.983383	B	0.21821	0.061	B	0.26310	0.068	T	0.61783	-0.6992	10	0.27785	T	0.31	.	18.2984	0.90155	0.0:1.0:0.0:0.0	.	212	Q96DC8	ECHD3_HUMAN	K	212;139	ENSP00000368517:Q212K;ENSP00000398429:Q139K	ENSP00000368517:Q212K	Q	+	1	0	ECHDC3	11845271	0.993000	0.37304	0.757000	0.31301	0.220000	0.24768	4.574000	0.60900	2.565000	0.86533	0.561000	0.74099	CAG	ECHDC3	-	pfam_Crotonase_core_superfam	ENSG00000134463		0.637	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC3	HGNC	protein_coding	OTTHUMT00000046771.1		0	44	0	C	NM_024693		11805265	1			no_errors	ENST00000379215	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.993	A	A	11805265	C	A	11805265	3	1	141	1	0	0	0	0	1	0	0	0	4909	595	21	3	652	3	ECHDC3	10	11805265	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09		11805265	123729482	120	35898											
PLAU	414236	genome.wustl.edu	37	chr10	75673062	75673062	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggaacccagacaaccGgaggcgaccctggtgctatg	10	5	13	13	2	0	1	0	0	0	1	0	4	0	3	4	4	4	1	4	4	3	1	rs371297216		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr10:75673062G>A	ENST00000409178.1	-	3	268				PLAU_ENST00000372764.3_Missense_Mutation_p.R128Q|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Missense_Mutation_p.R111Q|PLAU_ENST00000372762.4_Missense_Mutation_p.R92Q	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					CCAGACAACCGGAGGCGACCC	0.577													G|||	1	0.000199681	0	0	5008	,	,		19385	0		0.001	False		,,,				2504	0																0								G	,GLN/ARG,GLN/ARG	0,4406		0,0,2203	108	110	110		,332,383	1.6	0.2	10		110	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense,missense	PLAU,C10orf55	NM_001001791.2,NM_001145031.1,NM_002658.3	,43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,benign,benign	,111/415,128/432	75673062	2,13004	2203	4300	6503	SO:0001627	intron_variant	0				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-229C>T	10.37:g.75673062G>A			Q3KRG4|Q8NAK4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R128Q	ENST00000409178.1	37	c.383	CCDS53541.1	10	.	.	.	.	.	.	.	.	.	.	G	3.393	-0.123997	0.06795	0.0	2.33E-4	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.61980	0.06;0.06;0.06	5.31	1.63	0.23807	Kringle (5);Kringle-like fold (1);Kringle, conserved site (1);	0.352135	0.31312	N	0.007870	T	0.27832	0.0685	N	0.02334	-0.595	0.09310	N	0.999998	B;B;B;B	0.22983	0.006;0.014;0.078;0.008	B;B;B;B	0.12837	0.004;0.007;0.008;0.007	T	0.10753	-1.0616	10	0.30078	T	0.28	.	3.5398	0.07807	0.646:0.0:0.1901:0.1638	.	111;92;128;128	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	Q	111;128;92;92	ENSP00000388474:R111Q;ENSP00000361850:R128Q;ENSP00000361848:R92Q	ENSP00000361847:R92Q	R	+	2	0	PLAU	75343068	0.000000	0.05858	0.212000	0.23672	0.136000	0.21042	0.542000	0.23222	0.332000	0.23536	-1.107000	0.02091	CGG	PLAU	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000122861		0.577	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	HGNC	protein_coding	OTTHUMT00000048746.1		0	31	0	G	NM_001001791		75673062	1			no_errors	ENST00000372764	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.011	A	A	75673062	G	A	75673062	1	1	141	0	1	0	0	0	0	0	0	0	12061	1116	39	1		1	PLAU	10	75673062	Intron	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	63867797	75673062	59861685	121	35899											
LBX1	10660	genome.wustl.edu	37	chr10	102987416	102987416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgcgatttggtcgcgatcggCgggggacaggtacttctggt	5	10	17	9	6	1	0	0	0	1	0	3	3	1	1	0	6	1	1	0	6	1	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr10:102987416C>T	ENST00000370193.2	-	2	1435	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	LBX1-AS1_ENST00000547077.1_RNA|LBX1-AS1_ENST00000546988.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	153					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TCGCGATCGGCGGGGGACAGG	0.587																																																	0													90	95	93					10																	102987416		2203	4300	6503	SO:0001583	missense	0			X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"Homeoboxes / ANTP class : NKL subclass"	16960	protein-coding gene	gene with protein product		604255	"ladybird homeobox homolog 1 (Drosophila)"			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.457G>A	10.37:g.102987416C>T	ENSP00000359212:p.Ala153Thr		B9EGA2|Q05BB2	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.A153T	ENST00000370193.2	37	c.457	CCDS31270.1	10	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475505	0.84640	.	.	ENSG00000138136	ENST00000370193	D	0.96200	-3.94	5.61	5.61	0.85477	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94295	0.8167	N	0.12961	0.28	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	D	0.94306	0.7541	10	0.54805	T	0.06	.	12.5865	0.56421	0.0:0.9233:0.0:0.0767	.	153	P52954	LBX1_HUMAN	T	153	ENSP00000359212:A153T	ENSP00000359212:A153T	A	-	1	0	LBX1	102977406	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.946000	0.70234	2.646000	0.89796	0.561000	0.74099	GCC	LBX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000138136		0.587	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBX1	HGNC	protein_coding	OTTHUMT00000049928.3		0	58	0	C	NM_006562		102987416	-1			no_errors	ENST00000370193	ensembl	human	known	74_37	missense	16.92	54	11	SNP	0.996	T	T	102987416	C	T	102987416	3	4	141	1	0	0	0	0	1	0	0	0	8681	768	27	1	392	1	LBX1	10	102987416	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	27314354	102987416	32547331	122	35900											
SORCS3	22986	genome.wustl.edu	37	chr10	106937852	106937852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgatgagggccactcttggGacaagtatggtttcacttcg	8	13	12	8	1	2	2	1	2	1	0	3	3	2	3	1	3	0	2	1	3	2	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr10:106937852G>A	ENST00000369701.3	+	14	2157	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	644					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)		CCACTCTTGGGACAAGTATGG	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)												0													248	213	225					10																	106937852		2203	4300	6503	SO:0001583	missense	0			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.1930G>A	10.37:g.106937852G>A	ENSP00000358715:p.Asp644Asn		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.D644N	ENST00000369701.3	37	c.1930	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116501	0.37339	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.21361	2.01;2.01	5.48	3.63	0.41609	VPS10 (1);	0.357001	0.32204	N	0.006435	T	0.09202	0.0227	N	0.11131	0.1	0.34844	D	0.740962	B	0.09022	0.002	B	0.08055	0.003	T	0.19582	-1.0301	9	.	.	.	.	6.3039	0.21127	0.3277:0.0:0.6723:0.0	.	644	Q9UPU3	SORC3_HUMAN	N	644;89	ENSP00000358715:D644N;ENSP00000376876:D89N	.	D	+	1	0	SORCS3	106927842	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.695000	0.54749	1.305000	0.44909	0.460000	0.39030	GAC	SORCS3	-	smart_VPS10	ENSG00000156395		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1		0	136	0	G	NM_014978		106937852	1			no_errors	ENST00000369701	ensembl	human	known	74_37	missense	16.15	135	26	SNP	1.000	A	A	106937852	G	A	106937852	3	1	141	1	0	0	0	0	1	0	0	0	14977	1174	41	3	1984	3	SORCS3	10	106937852	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	3950436	106937852	28596895	123	35901											
ATRNL1	26033	genome.wustl.edu	37	chr10	117486857	117486857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacagagtttctgcgagggCcattagaggtaggaacagcg	13	7	14	7	2	1	2	0	0	1	2	1	4	1	3	1	3	4	2	1	3	4	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr10:117486857C>G	ENST00000355044.3	+	27	4021	c.3895C>G	c.(3895-3897)Cca>Gca	p.P1299A	ATRNL1_ENST00000423111.2_Missense_Mutation_p.P350A|ATRNL1_ENST00000303745.7_Missense_Mutation_p.P92A	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1299					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)		TCTGCGAGGGCCATTAGAGGT	0.473																																																	0													53	47	49					10																	117486857		2203	4300	6503	SO:0001583	missense	0			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.3895C>G	10.37:g.117486857C>G	ENSP00000347152:p.Pro1299Ala		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.P1299A	ENST00000355044.3	37	c.3895	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	1.995	-0.430938	0.04669	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.39592	1.07;1.07;1.07	5.77	2.55	0.30701	.	0.242655	0.41823	D	0.000807	T	0.19886	0.0478	N	0.12182	0.205	0.31497	N	0.665233	B;B	0.09022	0.0;0.002	B;B	0.09377	0.0;0.004	T	0.23084	-1.0198	10	0.09084	T	0.74	-2.1769	8.9514	0.35792	0.1298:0.7233:0.0:0.1468	.	350;1299	B4DH41;Q5VV63	.;ATRN1_HUMAN	A	1299;350;92	ENSP00000347152:P1299A;ENSP00000409624:P350A;ENSP00000307660:P92A	ENSP00000307660:P92A	P	+	1	0	ATRNL1	117476847	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.061000	0.41403	0.752000	0.32923	0.650000	0.86243	CCA	ATRNL1	-	NULL	ENSG00000107518		0.473	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3		0	47	0	C	XM_049349		117486857	1			no_errors	ENST00000355044	ensembl	human	known	74_37	missense	42.55	27	20	SNP	1.000	G	G	117486857	C	G	117486857	3	3	141	1	0	0	0	0	1	0	0	0	1208	739	26	5	4001	5	ATRNL1	10	117486857	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	10549005	117486857	18047890	124	35902											
SMPD1	6609	genome.wustl.edu	37	chr11	6412634	6412634	+	Silent	SNP	C	C	T	0	0	0	1	1	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	aaggaacccaatgtggctcgCgtgggctccgtggccatcaa	9	7	13	12	3	1	0	1	0	0	0	3	1	2	1	3	4	1	2	3	4	4	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:6412634C>T	ENST00000342245.4	+	2	507	c.339C>T	c.(337-339)cgC>cgT	p.R113R	SMPD1_ENST00000527275.1_Silent_p.R112R|SMPD1_ENST00000299397.3_Silent_p.R113R|SMPD1_ENST00000356761.2_Silent_p.R113R|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	111	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)	ATGTGGCTCGCGTGGGCTCCG	0.592																																																	0													60	51	54					11																	6412634		2201	4296	6497	SO:0001819	synonymous_variant	0			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.339C>T	11.37:g.6412634C>T			A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	p.R113	ENST00000342245.4	37	c.339	CCDS44531.1	11																																																																																			SMPD1	-	superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	ENSG00000166311		0.592	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1		0	10	0	C	NM_000543		6412634	1			no_errors	ENST00000342245	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.241	T	T	6412634	C	T	6412634	2	4	141	1	0	0	0	0	0	0	0	1	14849	755	27	1		1	SMPD1	11	6412634	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09		6412634	128593882	125	35903											
OR10A5	144124	genome.wustl.edu	37	chr11	6867411	6867411	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaccacatggctcttcagTtttccattctgtggcaccaa	9	12	7	13	0	3	1	1	0	2	1	4	1	4	1	3	2	0	3	3	2	1	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:6867411T>C	ENST00000299454.4	+	1	529	c.498T>C	c.(496-498)agT>agC	p.S166S	OR10A5_ENST00000379831.2_Silent_p.S170S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	166					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)		GGCTCTTCAGTTTTCCATTCT	0.532																																					Pancreas(44;21 1072 25662 28041 45559)												0													116	112	113					11																	6867411		2201	4293	6494	SO:0001819	synonymous_variant	0			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.498T>C	11.37:g.6867411T>C			O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S170	ENST00000299454.4	37	c.510	CCDS7773.1	11																																																																																			OR10A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000166363		0.532	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A5	HGNC	protein_coding	OTTHUMT00000385983.1		0	40	0	T	NM_178168		6867411	1			no_errors	ENST00000379831	ensembl	human	known	74_37	silent	28.21	28	11	SNP	0.940	C	C	6867411	T	C	6867411	2	2	141	1	0	0	0	0	0	0	0	1	10932	1722	60	4		4	OR10A5	11	6867411	Silent	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	454777	6867411	128139105	126	35904											
GALNTL4	374378	genome.wustl.edu	37	chr11	11354261	11354261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactccataggcaatgatgtCggagtacatcctcatctctg	10	11	8	12	1	2	1	1	1	1	0	6	2	4	2	2	2	1	2	2	2	3	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:11354261C>T	ENST00000227756.4	-	8	1807	c.1396G>A	c.(1396-1398)Gac>Aac	p.D466N		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	466					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)										GCAATGATGTCGGAGTACATC	0.522																																																	0													103	84	90					11																	11354261		2201	4294	6495	SO:0001583	missense	0			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.1396G>A	11.37:g.11354261C>T	ENSP00000227756:p.Asp466Asn		O95903|Q8NDY9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.D466N	ENST00000227756.4	37	c.1396	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306271	0.23736	.	.	ENSG00000110328	ENST00000227756	T	0.57107	0.42	5.54	5.54	0.83059	Ricin B-related lectin (1);	0.941143	0.09007	N	0.862195	T	0.37999	0.1024	N	0.12853	0.265	0.58432	D	0.999999	B	0.18310	0.027	B	0.10450	0.005	T	0.12192	-1.0557	10	0.08837	T	0.75	.	18.0372	0.89308	0.0:1.0:0.0:0.0	.	466	Q6P9A2	GLTL4_HUMAN	N	466	ENSP00000227756:D466N	ENSP00000227756:D466N	D	-	1	0	GALNTL4	11310837	1.000000	0.71417	0.956000	0.39512	0.608000	0.37181	6.083000	0.71326	2.609000	0.88269	0.655000	0.94253	GAC	GALNT18	-	superfamily_Ricin_B_lectin	ENSG00000110328		0.522	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	HGNC	protein_coding	OTTHUMT00000385848.1		0	33	0	C	NM_198516		11354261	-1			no_errors	ENST00000227756	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	11354261	C	T	11354261	3	4	141	1	0	0	0	0	1	0	0	0	6248	884	31	1	443	1	GALNTL4	11	11354261	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	4486850	11354261	123652255	127	35905											
DGKZ	8525	genome.wustl.edu	37	chr11	46393632	46393632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtctcccaggagggccGctggagacccttcatcatca	7	9	10	15	1	4	1	3	0	1	1	5	3	4	2	4	3	0	1	4	3	0	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:46393632G>A	ENST00000454345.1	+	11	1528	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	DGKZ_ENST00000395574.3_Missense_Mutation_p.R246H|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.R279H|DGKZ_ENST00000527911.1_Missense_Mutation_p.R280H|DGKZ_ENST00000343674.6_Missense_Mutation_p.R296H|DGKZ_ENST00000528615.1_Missense_Mutation_p.R58H|DGKZ_ENST00000318201.8_Missense_Mutation_p.R257H|DGKZ_ENST00000532868.2_Missense_Mutation_p.R284H|DGKZ_ENST00000421244.2_Missense_Mutation_p.R280H	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	468	Mediates interaction with RASGRP1.				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)		CAGGAGGGCCGCTGGAGACCC	0.622																																																	0													34	29	31					11																	46393632		2202	4298	6500	SO:0001583	missense	0			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.1403G>A	11.37:g.46393632G>A	ENSP00000412178:p.Arg468His		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R468H	ENST00000454345.1	37	c.1403	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620782	0.87460	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.24723	2.4;2.6;2.6;2.66;3.59;2.42;2.48;2.6;1.84	4.86	4.86	0.63082	.	0.978321	0.08308	N	0.965807	T	0.54240	0.1846	M	0.65975	2.015	0.58432	D	0.999999	P;D;D;D;P;D;D;D;D	0.89917	0.952;1.0;1.0;0.999;0.947;1.0;0.999;0.999;1.0	B;D;D;D;P;D;D;D;D	0.70487	0.241;0.932;0.95;0.932;0.457;0.969;0.969;0.932;0.932	T	0.49000	-0.8984	10	0.72032	D	0.01	.	18.4419	0.90669	0.0:0.0:1.0:0.0	.	257;245;223;280;468;279;280;246;296	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	H	296;58;246;245;280;279;280;257;468	ENSP00000343065:R296H;ENSP00000434719:R58H;ENSP00000378941:R246H;ENSP00000436273:R245H;ENSP00000436291:R280H;ENSP00000395684:R279H;ENSP00000391021:R280H;ENSP00000320340:R257H;ENSP00000412178:R468H	ENSP00000320340:R257H	R	+	2	0	DGKZ	46350208	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.472000	0.80996	2.429000	0.82318	0.586000	0.80456	CGC	DGKZ	-	NULL	ENSG00000149091		0.622	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1		0	59	0	G	NM_001105540		46393632	1			no_errors	ENST00000454345	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	A	A	46393632	G	A	46393632	3	1	141	1	0	0	0	0	1	0	0	0	4488	1087	38	1	1888	1	DGKZ	11	46393632	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	35039371	46393632	88612884	128	35906											
OR4C6	219432	genome.wustl.edu	37	chr11	55432790	55432790	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtggtaactattatcacaAgtcagagtctgaggtcacct	11	13	9	8	0	4	2	3	1	1	1	4	2	4	2	1	2	1	1	1	2	4	4	rs200014503		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:55432790A>C	ENST00000314259.3	+	1	177	c.148A>C	c.(148-150)Agt>Cgt	p.S50R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TATTATCACAAGTCAGAGTCT	0.408																																																	0													280	250	260					11																	55432790		2200	4296	6496	SO:0001583	missense	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.148A>C	11.37:g.55432790A>C	ENSP00000324769:p.Ser50Arg		B2RP11|Q6IFD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S50R	ENST00000314259.3	37	c.148	CCDS31506.1	11	.	.	.	.	.	.	.	.	.	.	A	14.01	2.406353	0.42715	.	.	ENSG00000181903	ENST00000314259	T	0.01099	5.34	3.83	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.153264	0.30593	N	0.009294	T	0.06371	0.0164	M	0.91717	3.235	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.15037	-1.0451	10	0.87932	D	0	.	2.8612	0.05588	0.508:0.0:0.1157:0.3763	.	50	Q8NH72	OR4C6_HUMAN	R	50	ENSP00000324769:S50R	ENSP00000324769:S50R	S	+	1	0	OR4C6	55189366	0.000000	0.05858	0.010000	0.14722	0.041000	0.13682	-0.874000	0.04210	1.387000	0.46486	0.444000	0.29173	AGT	OR4C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181903		0.408	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1		0	28	0	A	NM_001004704		55432790	1			no_errors	ENST00000314259	ensembl	human	known	74_37	missense	42.11	11	8	SNP	0.001	C	C	55432790	A	C	55432790	3	2	141	1	0	0	0	0	1	0	0	0	11091	72	3	4	150	4	OR4C6	11	55432790	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	9039158	55432790	79573726	129	35907											
OR5R1	219479	genome.wustl.edu	37	chr11	56185440	56185440	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcatggaaaggaatggtgTtgcgttccacaacaaaattc	15	9	10	7	1	0	0	0	0	0	0	2	2	1	2	1	3	3	3	1	3	6	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:56185440T>A	ENST00000312253.1	-	1	268	c.269A>T	c.(268-270)aAc>aTc	p.N90I		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGGAATGGTGTTGCGTTCCAC	0.453																																																	0													123	110	115					11																	56185440		2201	4296	6497	SO:0001583	missense	0			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.269A>T	11.37:g.56185440T>A	ENSP00000308595:p.Asn90Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N90I	ENST00000312253.1	37	c.269	CCDS31530.1	11	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126226	0.37533	.	.	ENSG00000174942	ENST00000312253	T	0.01998	4.51	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.220262	0.22262	U	0.062383	T	0.12178	0.0296	M	0.86028	2.79	0.09310	N	1	D	0.53619	0.961	P	0.62014	0.897	T	0.07578	-1.0765	10	0.87932	D	0	-12.2585	11.1333	0.48360	0.0:0.0:0.1544:0.8456	.	90	Q8NH85	OR5R1_HUMAN	I	90	ENSP00000308595:N90I	ENSP00000308595:N90I	N	-	2	0	OR5R1	55942016	0.001000	0.12720	0.104000	0.21259	0.078000	0.17371	0.775000	0.26689	2.211000	0.71520	0.391000	0.25812	AAC	OR5R1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174942		0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	HGNC	protein_coding	OTTHUMT00000334444.1		0	16	0	T	NM_001004744		56185440	-1			no_errors	ENST00000312253	ensembl	human	known	74_37	missense	36.00	16	9	SNP	0.063	A	A	56185440	T	A	56185440	3	1	141	1	0	0	0	0	1	0	0	0	11219	1725	60	5	707	5	OR5R1	11	56185440	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	752650	56185440	78821076	130	35908											
FEN1	2237	genome.wustl.edu	37	chr11	61563401	61563401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttcggcagccctgtgCtaatgcgacacctgactgcc	7	9	9	16	2	1	1	1	1	0	0	2	2	1	1	4	1	4	2	4	1	1	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:61563401C>T	ENST00000305885.2	+	2	981	c.568C>T	c.(568-570)Cta>Tta	p.L190L	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CAGCCCTGTGCTAATGCGACA	0.587								Editing and processing nucleases																																									0													59	60	60					11																	61563401		2202	4299	6501	SO:0001819	synonymous_variant	0			L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"maturation factor-1", "DNase IV"	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.568C>T	11.37:g.61563401C>T				Silent	SNP	pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.L190	ENST00000305885.2	37	c.568	CCDS8010.1	11																																																																																			FEN1	-	pfam_XPG-I_dom,smart_XPG-I_dom	ENSG00000168496		0.587	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEN1	HGNC	protein_coding	OTTHUMT00000398526.1		0	25	0	C	NM_004111		61563401	1			no_errors	ENST00000305885	ensembl	human	known	74_37	silent	23.08	20	6	SNP	1.000	T	T	61563401	C	T	61563401	2	4	141	1	0	0	0	0	0	0	0	1	5834	796	28	3		3	FEN1	11	61563401	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	5377961	61563401	73443115	131	35909											
MAP4K2	5871	genome.wustl.edu	37	chr11	64564480	64564480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggagttggggggagccCgtggcaggatgacctctggg	5	8	20	8	1	1	1	0	1	1	0	1	4	1	4	2	7	1	2	2	7	0	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:64564480C>T	ENST00000294066.2	-	20	1472	c.1381G>A	c.(1381-1383)Ggg>Agg	p.G461R	MAP4K2_ENST00000377350.3_Missense_Mutation_p.G453R	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	461					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						GGGGGGAGCCCGTGGCAGGAT	0.637																																																	0													62	60	61					11																	64564480		2201	4297	6498	SO:0001583	missense	0			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.1381G>A	11.37:g.64564480C>T	ENSP00000294066:p.Gly461Arg		Q86VU3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.G461R	ENST00000294066.2	37	c.1381	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399535	0.83120	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.76060	-0.99;-0.68	4.51	4.51	0.55191	.	0.383844	0.25060	N	0.033445	D	0.83871	0.5348	M	0.65677	2.01	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85554	0.1223	10	0.87932	D	0	.	13.1403	0.59430	0.0:1.0:0.0:0.0	.	453;461	Q86VU3;Q12851	.;M4K2_HUMAN	R	461;453	ENSP00000294066:G461R;ENSP00000366567:G453R	ENSP00000294066:G461R	G	-	1	0	MAP4K2	64321056	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.401000	0.73256	2.247000	0.74100	0.558000	0.71614	GGG	MAP4K2	-	NULL	ENSG00000168067		0.637	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1		0	87	0	C	NM_004579		64564480	-1			no_errors	ENST00000294066	ensembl	human	known	74_37	missense	25.97	57	20	SNP	1.000	T	T	64564480	C	T	64564480	3	4	141	1	0	0	0	0	1	0	0	0	9298	652	23	1	1133	1	MAP4K2	11	64564480	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	3001079	64564480	70442036	132	35910											
PRKRIR	5612	genome.wustl.edu	37	chr11	76063648	76063648	+	Silent	SNP	A	A	G	1	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	tcagcctcatgtccatccagAggtatgttttgctttcccat	7	15	7	12	0	2	1	2	0	0	1	5	1	5	1	4	1	2	3	4	1	1	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:76063648A>G	ENST00000260045.3	-	5	651	c.546T>C	c.(544-546)ccT>ccC	p.P182P	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	182					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GTCCATCCAGAGGTATGTTTT	0.403																																																	0													34	31	32					11																	76063648		2200	4287	6487	SO:0001819	synonymous_variant	0			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.546T>C	11.37:g.76063648A>G			A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Silent	SNP	pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.P182	ENST00000260045.3	37	c.546	CCDS8243.1	11																																																																																			PRKRIR	-	NULL	ENSG00000137492		0.403	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	HGNC	protein_coding	OTTHUMT00000383188.1		0	100	0	A	NM_004705		76063648	-1			no_errors	ENST00000260045	ensembl	human	known	74_37	silent	22.62	65	19	SNP	0.868	G	G	76063648	A	G	76063648	2	3	141	1	0	0	0	0	0	0	0	1	12568	291	11	4		4	PRKRIR	11	76063648	Silent	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	11499168	76063648	58942868	133	35911											
MAML2	84441	genome.wustl.edu	37	chr11	95712485	95712485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tttgcccatttagtgtttggCtcatttggttcatgggtctc	4	19	10	8	0	3	0	2	0	1	0	4	0	3	0	1	3	1	3	1	3	1	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:95712485C>T	ENST00000524717.1	-	5	4382	c.3098G>A	c.(3097-3099)aGc>aAc	p.S1033N		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1033					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)				TAGTGTTTGGCTCATTTGGTT	0.493			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													148	128	134					11																	95712485		1911	4128	6039	SO:0001583	missense	0			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.3098G>A	11.37:g.95712485C>T	ENSP00000434552:p.Ser1033Asn		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.S1033N	ENST00000524717.1	37	c.3098	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	C	3.359	-0.130905	0.06753	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.39229	1.09;1.09	5.72	-0.305	0.12784	.	0.436730	0.24508	N	0.037910	T	0.15696	0.0378	N	0.11000	0.08	0.24758	N	0.992943	B	0.06786	0.001	B	0.04013	0.001	T	0.31110	-0.9955	10	0.02654	T	1	-4.623	6.5431	0.22390	0.0:0.4406:0.1246:0.4348	.	1033	Q8IZL2	MAML2_HUMAN	N	1033	ENSP00000434552:S1033N;ENSP00000412394:S1033N	ENSP00000412394:S1033N	S	-	2	0	MAML2	95352133	0.985000	0.35326	0.178000	0.23040	0.994000	0.84299	0.184000	0.16939	-0.035000	0.13691	0.561000	0.74099	AGC	MAML2	-	NULL	ENSG00000184384		0.493	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1		0	41	0	C			95712485	-1			no_errors	ENST00000524717	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.966	T	T	95712485	C	T	95712485	3	4	141	1	0	0	0	0	1	0	0	0	9244	797	28	3	376	3	MAML2	11	95712485	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	19648837	95712485	39294031	134	35912											
TRPC6	7225	genome.wustl.edu	37	chr11	101374848	101374848	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactagacaatgacaggtaAgccggacttgccaggccttt	11	9	10	11	1	1	2	1	1	0	1	1	3	1	3	3	3	2	1	3	3	3	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:101374848A>G	ENST00000344327.3	-	2	1276	c.852T>C	c.(850-852)gcT>gcC	p.A284A	TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000360497.4_Silent_p.A284A|TRPC6_ENST00000532133.1_Silent_p.A284A|TRPC6_ENST00000348423.4_Silent_p.A284A	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	284					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)		ATGACAGGTAAGCCGGACTTG	0.448																																					Colon(166;1315 1927 11094 12848 34731)												0													161	160	160					11																	101374848		2203	4299	6502	SO:0001819	synonymous_variant	0			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.852T>C	11.37:g.101374848A>G			Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.A284	ENST00000344327.3	37	c.852	CCDS8311.1	11																																																																																			TRPC6	-	pfam_TRP_dom,tigrfam_TRP_channel	ENSG00000137672		0.448	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1		0	49	0	A	NM_004621		101374848	-1			no_errors	ENST00000344327	ensembl	human	known	74_37	silent	27.87	44	17	SNP	0.914	G	G	101374848	A	G	101374848	2	3	141	1	0	0	0	0	0	0	0	1	16631	59	3	4		4	TRPC6	11	101374848	Silent	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	5662363	101374848	33631668	135	35913											
OR8B2	26595	genome.wustl.edu	37	chr11	124252988	124252988	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattcttttttgacacaaaGttcattagcattttgggagt	11	18	7	5	0	2	1	1	1	1	0	2	2	2	2	0	1	1	2	0	1	3	9			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:124252988G>C	ENST00000375013.2	-	1	270	c.252C>G	c.(250-252)aaC>aaG	p.N84K		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	84						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)		TTGACACAAAGTTCATTAGCA	0.368																																																	0													138	133	134					11																	124252988		2201	4299	6500	SO:0001583	missense	0			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.252C>G	11.37:g.124252988G>C	ENSP00000364152:p.Asn84Lys		Q8NGH2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N84K	ENST00000375013.2	37	c.252	CCDS31708.1	11	.	.	.	.	.	.	.	.	.	.	g	5.691	0.312134	0.10789	.	.	ENSG00000204293	ENST00000375013	T	0.00466	7.23	4.2	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.277802	0.31601	N	0.007363	T	0.00695	0.0023	M	0.93150	3.385	0.09310	N	1	B	0.27853	0.191	B	0.26770	0.073	T	0.37911	-0.9685	10	0.66056	D	0.02	.	5.2584	0.15559	0.3755:0.0:0.6245:0.0	.	84	Q96RD0	OR8B2_HUMAN	K	84	ENSP00000364152:N84K	ENSP00000364152:N84K	N	-	3	2	OR8B2	123758198	0.000000	0.05858	0.137000	0.22149	0.099000	0.18886	-1.218000	0.02976	1.103000	0.41568	0.400000	0.26472	AAC	OR8B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204293		0.368	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B2	HGNC	protein_coding	OTTHUMT00000387290.1		0	49	0	G	NM_001005468		124252988	-1			no_errors	ENST00000375013	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.042	C	C	124252988	G	C	124252988	3	2	141	1	0	0	0	0	1	0	0	0	11266	1020	36	5	692	5	OR8B2	11	124252988	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	22878140	124252988	10753528	136	35914											
ROBO3	64221	genome.wustl.edu	37	chr11	124738938	124738938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	catcgtgcacgggcgccgcgCgcggccggacgaaggtgtct	5	5	17	14	9	1	0	0	0	1	0	2	2	1	1	2	4	1	1	2	4	1	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:124738938C>T	ENST00000397801.1	+	2	593	c.401C>T	c.(400-402)gCg>gTg	p.A134V	ROBO3_ENST00000538940.1_Missense_Mutation_p.A112V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	134	Ig-like C2-type 1.				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)		GGGCGCCGCGCGCGGCCGGAC	0.701																																																	0													10	12	12					11																	124738938		1907	4098	6005	SO:0001583	missense	0			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.401C>T	11.37:g.124738938C>T	ENSP00000380903:p.Ala134Val			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A134V	ENST00000397801.1	37	c.401	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769991	0.90020	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.68025	-0.3;-0.3	5.03	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.371721	0.19496	N	0.112846	T	0.56321	0.1977	N	0.20881	0.62	0.80722	D	1	B	0.31485	0.325	B	0.37239	0.244	T	0.57388	-0.7820	10	0.42905	T	0.14	.	12.9677	0.58494	0.0:0.7023:0.2977:0.0	.	134	Q96MS0	ROBO3_HUMAN	V	134;112	ENSP00000380903:A134V;ENSP00000441797:A112V	ENSP00000380903:A134V	A	+	2	0	ROBO3	124244148	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	5.694000	0.68272	2.347000	0.79759	0.462000	0.41574	GCG	ROBO3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000154134		0.701	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1		0	24	0	C	XM_370663		124738938	1			no_errors	ENST00000397801	ensembl	human	known	74_37	missense	23.08	20	6	SNP	1.000	T	T	124738938	C	T	124738938	3	4	141	1	0	0	0	0	1	0	0	0	13560	768	27	1	407	1	ROBO3	11	124738938	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	485950	124738938	10267578	137	35915											
CACNA1C	775	genome.wustl.edu	37	chr12	2224508	2224508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcgtggcaggcggccatCgacgcagcccggcaggctaa	7	5	15	14	5	0	0	0	0	0	0	2	1	0	0	2	5	1	4	2	5	1	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:2224508C>T	ENST00000347598.4	+	2	168	c.168C>T	c.(166-168)atC>atT	p.I56I	CACNA1C_ENST00000399634.1_Silent_p.I56I|CACNA1C_ENST00000399603.1_Silent_p.I56I|CACNA1C_ENST00000344100.3_Silent_p.I56I|CACNA1C_ENST00000480911.1_Silent_p.I56I|CACNA1C_ENST00000406454.3_Silent_p.I56I|CACNA1C_ENST00000399617.1_Silent_p.I56I|CACNA1C_ENST00000402845.3_Silent_p.I56I|CACNA1C_ENST00000327702.7_Silent_p.I56I|CACNA1C_ENST00000399601.1_Silent_p.I56I|CACNA1C_ENST00000399641.1_Silent_p.I56I|CACNA1C_ENST00000399591.1_Silent_p.I56I|CACNA1C_ENST00000399655.1_Silent_p.I56I|CACNA1C_ENST00000399638.1_Silent_p.I56I|CACNA1C_ENST00000399621.1_Silent_p.I56I|CACNA1C_ENST00000399649.1_Silent_p.I56I|CACNA1C_ENST00000399606.1_Silent_p.I56I|CACNA1C_ENST00000335762.5_Silent_p.I56I|CACNA1C_ENST00000399597.1_Silent_p.I56I|CACNA1C_ENST00000399637.1_Silent_p.I56I|CACNA1C_ENST00000399595.1_Silent_p.I56I|CACNA1C_ENST00000399644.1_Silent_p.I56I|CACNA1C_ENST00000399629.1_Silent_p.I56I	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	56					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)	AGGCGGCCATCGACGCAGCCC	0.677																																																	0																																										SO:0001819	synonymous_variant	0			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.168C>T	12.37:g.2224508C>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	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.I56	ENST00000347598.4	37	c.168	CCDS44788.1	12																																																																																			CACNA1C	-	NULL	ENSG00000151067		0.677	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0	18	0	C	NM_000719		2224508	1			no_errors	ENST00000399634	ensembl	human	known	74_37	silent	61.54	5	8	SNP	0.994	T	T	2224508	C	T	2224508	2	4	141	1	0	0	0	0	0	0	0	1	2547	874	31	1		1	CACNA1C	12	2224508	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09		2224508	131627387	138	35916											
NCAPD2	9918	genome.wustl.edu	37	chr12	6624087	6624087	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagatcacctggatggagaaGtaggtggtccactaggggtc	10	9	15	7	0	1	2	1	0	0	2	3	4	2	3	2	6	0	1	2	6	4	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:6624087G>T	ENST00000315579.5	+	9	1786		c.e9+1		NCAPD2_ENST00000545962.1_Splice_Site	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2						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						GGATGGAGAAGTAGGTGGTCC	0.458																																																	0													112	93	100					12																	6624087		2203	4300	6503	SO:0001630	splice_region_variant	0			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.987+1G>T	12.37:g.6624087G>T			D3DUR4|Q8N6U3	Splice_Site	SNP	-	e8+1	ENST00000315579.5	37	c.987+1	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775787	0.70107	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPD2	6494348	1.000000	0.71417	0.996000	0.52242	0.658000	0.38924	8.754000	0.91642	2.652000	0.90054	0.655000	0.94253	.	NCAPD2	-	-	ENSG00000010292		0.458	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1		0	25	0	G	NM_014865	Intron	6624087	1			no_errors	ENST00000315579	ensembl	human	known	74_37	splice_site	5.56	34	2	SNP	1.000	T	T	6624087	G	T	6624087	5	4	141	1	0	0	0	0	0	0	1	0	10244	1043	36	3	1018	3	NCAPD2	12	6624087	Splice_Site	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	4399579	6624087	127227808	139	35917											
CD163L1	283316	genome.wustl.edu	37	chr12	7527976	7527976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactcattccctaagcaatGaaacctgtgtccccacacac	12	9	5	15	0	1	2	1	2	0	0	3	2	3	2	4	0	2	1	4	0	3	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:7527976G>A	ENST00000313599.3	-	11	2959	c.2902C>T	c.(2902-2904)Cat>Tat	p.H968Y	CD163L1_ENST00000396630.1_Missense_Mutation_p.H968Y|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.H978Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	968	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTAAGCAATGAAACCTGTGT	0.473																																																	0													101	88	92					12																	7527976		2203	4300	6503	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2902C>T	12.37:g.7527976G>A	ENSP00000315945:p.His968Tyr		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.H968Y	ENST00000313599.3	37	c.2902	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066669	0.36470	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35421	1.31;1.31;1.31	2.29	1.38	0.22167	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.241880	0.27306	U	0.019972	T	0.37183	0.0994	M	0.62209	1.925	0.09310	N	1	P;P	0.46277	0.875;0.752	P;B	0.46452	0.517;0.388	T	0.21109	-1.0255	10	0.66056	D	0.02	.	7.2454	0.26119	0.1497:0.0:0.8503:0.0	.	978;968	E7EVK4;Q9NR16	.;C163B_HUMAN	Y	968;978;968	ENSP00000315945:H968Y;ENSP00000393474:H978Y;ENSP00000379871:H968Y	ENSP00000315945:H968Y	H	-	1	0	CD163L1	7419243	0.000000	0.05858	0.008000	0.14137	0.507000	0.33981	-1.082000	0.03400	0.506000	0.28125	0.455000	0.32223	CAT	CD163L1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000177675		0.473	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1		0	52	0	G	NM_174941		7527976	-1			no_errors	ENST00000313599	ensembl	human	known	74_37	missense	41.94	18	13	SNP	0.000	A	A	7527976	G	A	7527976	3	1	141	1	0	0	0	0	1	0	0	0	2975	1290	45	3	1495	3	CD163L1	12	7527976	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	903889	7527976	126323919	140	35918											
PRB4	5545	genome.wustl.edu	37	chr12	11461446	11461446	+	Silent	SNP	A	A	G	1	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	ccttctggctttcctggatgAggtgggggaccttgggactg	4	12	16	9	0	1	1	0	1	1	0	2	4	2	4	3	6	0	1	3	6	0	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:11461446A>G	ENST00000535904.1	-	3	504	c.471T>C	c.(469-471)ccT>ccC	p.P157P	PRB4_ENST00000279575.1_Silent_p.P157P|PRB4_ENST00000445719.2_Intron			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	178	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTCCTGGATGAGGTGGGGGAC	0.602										HNSCC(22;0.051)																																							0													196	214	208					12																	11461446		2203	4300	6503	SO:0001819	synonymous_variant	0				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.471T>C	12.37:g.11461446A>G			A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	NULL	p.P157	ENST00000535904.1	37	c.471	CCDS8641.1	12																																																																																			PRB4	-	NULL	ENSG00000230657		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1		0	112	0	A	NM_002723		11461446	-1			no_errors	ENST00000279575	ensembl	human	known	74_37	silent	39.36	57	37	SNP	0.000	G	G	11461446	A	G	11461446	2	3	141	1	0	0	0	0	0	0	0	1	12487	291	11	4		4	PRB4	12	11461446	Silent	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	3933470	11461446	122390449	141	35919											
GPR19	2842	genome.wustl.edu	37	chr12	12814459	12814459	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagctgtgaaaacaagggaActtttcttatagtcttgttc	12	15	8	6	0	2	1	0	1	2	0	3	2	2	2	0	1	3	2	0	1	7	7			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:12814459A>C	ENST00000540510.1	-	2	1116	c.924T>G	c.(922-924)agT>agG	p.S308R	GPR19_ENST00000332427.2_Missense_Mutation_p.S308R			P46093	GPR4_HUMAN	G protein-coupled receptor 19	270					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)		AAACAAGGGAACTTTTCTTAT	0.393																																																	0													64	65	65					12																	12814459		2203	4300	6503	SO:0001583	missense	0				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.924T>G	12.37:g.12814459A>C	ENSP00000441832:p.Ser308Arg		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S308R	ENST00000540510.1	37	c.924	CCDS8652.1	12	.	.	.	.	.	.	.	.	.	.	A	11.78	1.740109	0.30865	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.38401	1.14;1.14	5.53	0.0879	0.14452	GPCR, rhodopsin-like superfamily (1);	0.051744	0.85682	D	0.000000	T	0.41696	0.1170	L	0.52011	1.625	0.41515	D	0.98836	D	0.61080	0.989	P	0.59357	0.856	T	0.21861	-1.0233	10	0.23891	T	0.37	-18.9109	9.3346	0.38043	0.4024:0.0:0.5976:0.0	.	308	Q15760	GPR19_HUMAN	R	308	ENSP00000441832:S308R;ENSP00000333744:S308R	ENSP00000333744:S308R	S	-	3	2	GPR19	12705726	0.804000	0.28969	0.998000	0.56505	0.954000	0.61252	-0.078000	0.11375	0.249000	0.21456	0.533000	0.62120	AGT	GPR19	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183150		0.393	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR19	HGNC	protein_coding	OTTHUMT00000400662.1		0	47	0	A	NM_006143		12814459	-1			no_errors	ENST00000332427	ensembl	human	known	74_37	missense	50.00	22	22	SNP	0.995	C	C	12814459	A	C	12814459	3	2	141	1	0	0	0	0	1	0	0	0	6705	40	2	4	327	4	GPR19	12	12814459	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	1353013	12814459	121037436	142	35920											
PFKM	5213	genome.wustl.edu	37	chr12	48539352	48539352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattcctctgtaggcatcGaatccccaaggaacagtggt	10	10	9	12	1	2	0	1	0	1	0	5	2	4	1	3	3	1	2	3	3	4	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:48539352G>T	ENST00000312352.7	+	23	2243	c.2204G>T	c.(2203-2205)cGa>cTa	p.R735L	PFKM_ENST00000547587.1_Missense_Mutation_p.R735L|PFKM_ENST00000551804.1_Missense_Mutation_p.R704L|PFKM_ENST00000340802.6_Missense_Mutation_p.R806L|PFKM_ENST00000395233.2_Missense_Mutation_p.R704L|PFKM_ENST00000359794.5_Missense_Mutation_p.R735L	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	735	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGTAGGCATCGAATCCCCAAG	0.453																																																	0													112	84	94					12																	48539352		2203	4300	6503	SO:0001583	missense	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2204G>T	12.37:g.48539352G>T	ENSP00000309438:p.Arg735Leu		J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.R735L	ENST00000312352.7	37	c.2204	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960331	0.92791	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.05	5.05	0.67936	Phosphofructokinase domain (1);	0.000000	0.85682	D	0.000000	D	0.91389	0.7283	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.79784	0.993;0.97;0.919	D	0.92594	0.6085	10	0.87932	D	0	-10.9633	18.5901	0.91208	0.0:0.0:1.0:0.0	.	704;735;806	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	L	806;735;704;704;735;735	ENSP00000345771:R806L;ENSP00000352842:R735L;ENSP00000378656:R704L;ENSP00000448177:R704L;ENSP00000449426:R735L;ENSP00000309438:R735L	ENSP00000309438:R735L	R	+	2	0	PFKM	46825619	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.595000	0.98260	2.793000	0.96121	0.655000	0.94253	CGA	PFKM	-	superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.453	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1		0	14	0	G	NM_000289		48539352	1			no_errors	ENST00000312352	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	T	T	48539352	G	T	48539352	3	4	141	1	0	0	0	0	1	0	0	0	11804	1058	37	2	2511	2	PFKM	12	48539352	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	35724893	48539352	85312543	143	35921											
PDE1B	5153	genome.wustl.edu	37	chr12	54970422	54970422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgatgtggtcagctttCgttccacctgggtcaagcgc	6	11	11	13	2	2	1	2	1	0	0	4	1	3	1	3	2	2	2	3	2	1	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:54970422C>A	ENST00000243052.3	+	14	1880	c.1444C>A	c.(1444-1446)Cgt>Agt	p.R482S	PDE1B_ENST00000538346.1_Missense_Mutation_p.R441S|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R462S|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	482	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GGTCAGCTTTCGTTCCACCTG	0.562																																																	0													75	62	66					12																	54970422		2203	4300	6503	SO:0001583	missense	0			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.1444C>A	12.37:g.54970422C>A	ENSP00000243052:p.Arg482Ser		Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.R482S	ENST00000243052.3	37	c.1444	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216340	0.58452	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.69806	-0.43;-0.41;-0.41	4.86	4.86	0.63082	.	0.000000	0.45361	D	0.000373	T	0.66626	0.2808	N	0.24115	0.695	0.80722	D	1	D;P	0.56035	0.974;0.956	P;P	0.56823	0.807;0.714	T	0.67217	-0.5726	10	0.39692	T	0.17	.	15.8534	0.78952	0.0:1.0:0.0:0.0	.	462;482	Q01064-2;Q01064	.;PDE1B_HUMAN	S	482;441;462	ENSP00000243052:R482S;ENSP00000442559:R441S;ENSP00000448519:R462S	ENSP00000243052:R482S	R	+	1	0	PDE1B	53256689	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	6.755000	0.74914	2.403000	0.81681	0.561000	0.74099	CGT	PDE1B	-	NULL	ENSG00000123360		0.562	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1		0	46	0	C			54970422	1			no_errors	ENST00000243052	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	A	A	54970422	C	A	54970422	3	1	141	1	0	0	0	0	1	0	0	0	11673	884	31	2	1551	2	PDE1B	12	54970422	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	6431070	54970422	78881473	144	35922											
CPM	1368	genome.wustl.edu	37	chr12	69252831	69252831	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggatttccattctgatCaaaaacttgaccctttacac	13	14	4	10	0	2	2	1	2	1	0	3	3	3	3	2	1	2	0	2	1	4	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:69252831C>A	ENST00000551568.1	-	8	1021	c.961G>T	c.(961-963)Gat>Tat	p.D321Y	CPM_ENST00000546373.1_Missense_Mutation_p.D321Y|CPM_ENST00000338356.3_Missense_Mutation_p.D321Y	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	321					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CCATTCTGATCAAAAACTTGA	0.284																																																	0													88	85	86					12																	69252831		2203	4298	6501	SO:0001583	missense	0			AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"renal carboxypeptidase", "urinary carboxypeptidase B"	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.961G>T	12.37:g.69252831C>A	ENSP00000448517:p.Asp321Tyr		B2R800|Q9H2K9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Aste_AspA,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.D321Y	ENST00000551568.1	37	c.961	CCDS8987.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.99|17.99	3.524278|3.524278	0.64747|0.64747	.|.	.|.	ENSG00000135678|ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373|ENST00000551897	T;T;T|.	0.27402|.	1.67;1.67;1.67|.	5.64|5.64	3.71|3.71	0.42584|0.42584	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85561|0.85561	0.5725|0.5725	H|H	0.95328|0.95328	3.655|3.655	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.89622|0.89622	0.3849|0.3849	9|5	.|.	.|.	.|.	-29.8908|-29.8908	13.0531|13.0531	0.58966|0.58966	0.1274:0.7497:0.1229:0.0|0.1274:0.7497:0.1229:0.0	.|.	321|.	P14384|.	CBPM_HUMAN|.	Y|F	321|123	ENSP00000448517:D321Y;ENSP00000339157:D321Y;ENSP00000447255:D321Y|.	.|.	D|L	-|-	1|3	0|2	CPM|CPM	67539098|67539098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.814000|0.814000	0.46013|0.46013	4.010000|4.010000	0.57117|0.57117	1.516000|1.516000	0.48900|0.48900	-0.181000|-0.181000	0.13052|0.13052	GAT|TTG	CPM	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000135678		0.284	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPM	HGNC	protein_coding	OTTHUMT00000403355.1		0	58	0	C	NM_198320		69252831	-1			no_errors	ENST00000338356	ensembl	human	known	74_37	missense	9.43	48	5	SNP	1.000	A	A	69252831	C	A	69252831	3	1	141	1	0	0	0	0	1	0	0	0	3815	826	29	3	378	3	CPM	12	69252831	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	14282409	69252831	64599064	145	35923											
CRY1	1407	genome.wustl.edu	37	chr12	107399004	107399004	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagaatcatactcaattGaaagtttagtaatgttccat	14	14	6	7	0	3	2	3	1	0	1	4	2	4	2	1	0	1	4	1	0	6	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:107399004G>T	ENST00000008527.5	-	3	1157	c.290C>A	c.(289-291)tCa>tAa	p.S97*		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	97	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATACTCAATTGAAAGTTTAGT	0.343																																																	0													141	136	138					12																	107399004		2203	4300	6503	SO:0001587	stop_gained	0			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.290C>A	12.37:g.107399004G>T	ENSP00000008527:p.Ser97*			Nonsense_Mutation	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.S97*	ENST00000008527.5	37	c.290	CCDS9112.1	12	.	.	.	.	.	.	.	.	.	.	G	45	11.604854	0.99582	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-12.7269	19.6408	0.95757	0.0:0.0:1.0:0.0	.	.	.	.	X	97	.	ENSP00000008527:S97X	S	-	2	0	CRY1	105923134	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.658000	0.90341	0.585000	0.79938	TCA	CRY1	-	pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N	ENSG00000008405		0.343	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRY1	HGNC	protein_coding	OTTHUMT00000406827.1		0	44	0	G	NM_004075		107399004	-1			no_errors	ENST00000008527	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	1.000	T	T	107399004	G	T	107399004	4	4	141	1	0	0	0	0	0	1	0	0	3910	1294	45	3	1510	3	CRY1	12	107399004	Nonsense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	38146173	107399004	26452891	146	35924											
HVCN1	84329	genome.wustl.edu	37	chr12	111099082	111099082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgcagctctgccttcctCgcctgagactggtgtgggtg	3	11	15	12	1	1	1	0	1	1	1	3	2	2	1	3	3	3	3	3	3	0	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:111099082C>T	ENST00000356742.5	-	3	946	c.193G>A	c.(193-195)Gag>Aag	p.E65K	HVCN1_ENST00000439744.2_Missense_Mutation_p.E45K|HVCN1_ENST00000548312.1_Missense_Mutation_p.E65K|HVCN1_ENST00000242607.8_Missense_Mutation_p.E65K			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	65					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						CTGCCTTCCTCGCCTGAGACT	0.612																																																	0													62	65	64					12																	111099082		2203	4300	6503	SO:0001583	missense	0			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.193G>A	12.37:g.111099082C>T	ENSP00000349181:p.Glu65Lys		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E65K	ENST00000356742.5	37	c.193	CCDS31900.1	12	.	.	.	.	.	.	.	.	.	.	c	16.49	3.136825	0.56936	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744;ENST00000546713	T;T;T;T	0.45276	0.9;0.91;0.91;0.93	5.28	4.35	0.52113	.	0.509796	0.19747	N	0.106981	T	0.34513	0.0900	M	0.63428	1.95	0.09310	N	1	B;B	0.23540	0.052;0.087	B;B	0.13407	0.006;0.009	T	0.09164	-1.0687	10	0.27082	T	0.32	-24.3063	6.2109	0.20628	0.1379:0.657:0.1331:0.0721	.	65;65	Q96D96;Q96D96-3	HVCN1_HUMAN;.	K	65;65;65;45;65	ENSP00000449601:E65K;ENSP00000242607:E65K;ENSP00000349181:E65K;ENSP00000412052:E45K	ENSP00000242607:E65K	E	-	1	0	HVCN1	109583465	0.000000	0.05858	0.995000	0.50966	0.109000	0.19521	0.711000	0.25764	2.754000	0.94517	0.457000	0.33378	GAG	HVCN1	-	NULL	ENSG00000122986		0.612	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HVCN1	HGNC	protein_coding	OTTHUMT00000404653.1		0	129	0	C	NM_032369		111099082	-1			no_errors	ENST00000242607	ensembl	human	known	74_37	missense	53.51	53	61	SNP	0.059	T	T	111099082	C	T	111099082	3	4	141	1	0	0	0	0	1	0	0	0	7489	893	31	1	648	1	HVCN1	12	111099082	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	3700078	111099082	22752813	147	35925											
FAM123A	219287	genome.wustl.edu	37	chr13	25743791	25743791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgttgctctgatggtggtcCcagccaagccccggttgctg	4	10	13	14	2	1	1	0	1	1	0	2	1	2	1	5	3	4	4	5	3	1	2	rs369844022		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr13:25743791C>A	ENST00000515384.1	-	1	2634	c.1967G>T	c.(1966-1968)gGg>gTg	p.G656V	AMER2_ENST00000357816.2_Missense_Mutation_p.G537V|AMER2_ENST00000381853.3_Missense_Mutation_p.G537V			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	656					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)										GATGGTGGTCCCAGCCAAGCC	0.577																																																	0													53	57	55					13																	25743791		2203	4300	6503	SO:0001583	missense	0			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.1967G>T	13.37:g.25743791C>A	ENSP00000426528:p.Gly656Val		Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.G656V	ENST00000515384.1	37	c.1967	CCDS53859.1	13	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607356	0.66558	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.35421	1.41;1.41;1.31	5.97	5.97	0.96955	.	0.066725	0.56097	D	0.000021	T	0.45357	0.1338	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.988;0.992	T	0.41752	-0.9491	10	0.72032	D	0.01	-27.4014	12.6927	0.56985	0.0:0.9254:0.0:0.0746	.	656;537	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	V	537;537;656	ENSP00000350469:G537V;ENSP00000371277:G537V;ENSP00000426528:G656V	ENSP00000350469:G537V	G	-	2	0	FAM123A	24641791	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.770000	0.55310	2.837000	0.97791	0.655000	0.94253	GGG	AMER2	-	NULL	ENSG00000165566		0.577	AMER2-002	KNOWN	basic|CCDS	protein_coding	AMER2	HGNC	protein_coding	OTTHUMT00000370229.1		0	43	0	C	NM_152704		25743791	-1			no_errors	ENST00000515384	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	A	A	25743791	C	A	25743791	3	1	141	1	0	0	0	0	1	0	0	0	5441	623	22	3	52	3	FAM123A	13	25743791	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09		25743791	89426087	148	35926											
TUBGCP3	10426	genome.wustl.edu	37	chr13	113140382	113140382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctggctttgtaatgctcGttgaagtccagcctgaagct	7	13	10	11	1	0	2	0	2	0	0	3	2	2	2	3	1	3	5	3	1	3	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr13:113140382G>A	ENST00000261965.3	-	22	2835	c.2649C>T	c.(2647-2649)aaC>aaT	p.N883N		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	883					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)					TGTAATGCTCGTTGAAGTCCA	0.567																																																	0													30	25	27					13																	113140382		2203	4298	6501	SO:0001819	synonymous_variant	0			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.2649C>T	13.37:g.113140382G>A			O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Silent	SNP	pfam_TUBGCP	p.N883	ENST00000261965.3	37	c.2649	CCDS9525.1	13																																																																																			TUBGCP3	-	NULL	ENSG00000126216		0.567	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2		0	40	0	G	NM_006322		113140382	-1			no_errors	ENST00000261965	ensembl	human	known	74_37	silent	47.22	19	17	SNP	0.294	A	A	113140382	G	A	113140382	2	1	141	1	0	0	0	0	0	0	0	1	16816	1136	40	1		1	TUBGCP3	13	113140382	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	87396591	113140382	2029496	149	35927											
SALL2	6297	genome.wustl.edu	37	chr14	21992981	21992981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggggtgggtttgtggcttCgcccaacccctccagcagag	6	8	14	13	1	0	1	0	0	0	1	2	1	1	1	4	4	2	3	4	4	1	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr14:21992981C>T	ENST00000327430.3	-	2	1175	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.R157Q|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	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)			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)		TTTGTGGCTTCGCCCAACCCC	0.602																																																	0																																										SO:0001583	missense	0			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.881G>A	14.37:g.21992981C>T	ENSP00000333537:p.Arg294Gln		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R294Q	ENST00000327430.3	37	c.881	CCDS32045.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.24|15.24	2.773681|2.773681	0.49786|0.49786	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000546363|ENST00000327430;ENST00000450879;ENST00000541876	.|T;T	.|0.03920	.|3.85;3.76	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	.|0.000000	.|0.30940	.|U	.|0.008565	T|T	0.03608|0.03608	0.0103|0.0103	L|L	0.36672|0.36672	1.1|1.1	0.27682|0.27682	N|N	0.946391|0.946391	.|P;P;P;P	.|0.39624	.|0.681;0.681;0.681;0.681	.|B;B;B;B	.|0.24701	.|0.055;0.055;0.055;0.055	T|T	0.43032|0.43032	-0.9416|-0.9416	5|10	.|0.12766	.|T	.|0.61	-23.5961|-23.5961	14.7316|14.7316	0.69386|0.69386	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|157;157;292;294	.|B4DK65;E7EW59;B4DFD9;Q9Y467	.|.;.;.;SALL2_HUMAN	K|Q	153|294;157;294	.|ENSP00000333537:R294Q;ENSP00000396773:R157Q	.|ENSP00000333537:R294Q	E|R	-|-	1|2	0|0	SALL2|SALL2	21062821|21062821	0.186000|0.186000	0.23225|0.23225	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.716000|0.716000	0.25836|0.25836	2.327000|2.327000	0.79052|0.79052	0.655000|0.655000	0.94253|0.94253	GAA|CGA	SALL2	-	NULL	ENSG00000165821		0.602	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL2	HGNC	protein_coding	OTTHUMT00000401242.1		0	27	0	C	NM_005407		21992981	-1			no_errors	ENST00000327430	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	T	T	21992981	C	T	21992981	3	4	141	1	0	0	0	0	1	0	0	0	13856	884	31	1	2146	1	SALL2	14	21992981	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09		21992981	85356559	150	35928											
ACIN1	22985	genome.wustl.edu	37	chr14	23559205	23559205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtactgggcgaatgtctgCtgagctccagctctggtctc	6	11	12	12	2	3	1	0	1	3	0	5	2	4	1	1	2	4	4	1	2	2	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr14:23559205C>A	ENST00000262710.1	-	4	923	c.596G>T	c.(595-597)aGc>aTc	p.S199I	ACIN1_ENST00000457657.1_Intron|ACIN1_ENST00000555053.1_Missense_Mutation_p.S199I|ACIN1_ENST00000605057.1_Missense_Mutation_p.S141I	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	199	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)	p.S199T(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)		CGAATGTCTGCTGAGCTCCAG	0.567																																																	1	Substitution - Missense(1)	endometrium(1)											65	46	53					14																	23559205		2203	4300	6503	SO:0001583	missense	0			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.596G>T	14.37:g.23559205C>A	ENSP00000262710:p.Ser199Ile		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	p.S199I	ENST00000262710.1	37	c.596	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379836	0.42207	.	.	ENSG00000100813	ENST00000262710;ENST00000555053	T;T	0.15834	2.39;2.39	4.86	3.95	0.45737	.	0.000000	0.45867	D	0.000333	T	0.10252	0.0251	N	0.22421	0.69	0.80722	D	1	P;P	0.38677	0.642;0.51	B;B	0.35278	0.199;0.058	T	0.09292	-1.0681	10	0.34782	T	0.22	-7.692	9.306	0.37876	0.0:0.8991:0.0:0.1009	.	199;199	G3V3M7;Q9UKV3	.;ACINU_HUMAN	I	199	ENSP00000262710:S199I;ENSP00000451328:S199I	ENSP00000262710:S199I	S	-	2	0	ACIN1	22629045	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.243000	0.43115	2.534000	0.85438	0.484000	0.47621	AGC	ACIN1	-	NULL	ENSG00000100813		0.567	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3		0	28	0	C	NM_014977		23559205	-1			no_errors	ENST00000262710	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A	A	23559205	C	A	23559205	3	1	141	1	0	0	0	0	1	0	0	0	142	797	28	3	3640	3	ACIN1	14	23559205	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	1566224	23559205	83790335	151	35929											
PCK2	5106	genome.wustl.edu	37	chr14	24569441	24569441	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtatgtgcggtggggaagGtgtggcacagcctccaggcc	6	8	18	9	1	0	0	0	0	0	0	1	1	1	1	3	7	2	2	3	7	2	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr14:24569441G>C	ENST00000216780.4	+	7	1502				PCK2_ENST00000558096.1_Intron|PCK2_ENST00000396973.4_Missense_Mutation_p.G418A|NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000561286.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)						carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGTGGGGAAGGTGTGGCACAG	0.567																																																	0													107	73	84					14																	24569441		2203	4300	6503	SO:0001627	intron_variant	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1234+19G>C	14.37:g.24569441G>C			O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N	p.G418A	ENST00000216780.4	37	c.1253	CCDS9609.1	14	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425587	0.25639	.	.	ENSG00000100889	ENST00000396973	T	0.05786	3.39	4.2	-3.94	0.04130	.	.	.	.	.	T	0.02848	0.0085	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47249	-0.9132	7	.	.	.	.	4.1381	0.10181	0.1298:0.1031:0.5534:0.2136	.	418	Q16822-2	.	A	418	ENSP00000380171:G418A	.	G	+	2	0	PCK2	23639281	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.011000	0.03652	-0.196000	0.10366	-0.266000	0.10368	GGT	PCK2	-	NULL	ENSG00000100889		0.567	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3		0	29	0	G	NM_001018073		24569441	1			no_errors	ENST00000396973	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.000	C	C	24569441	G	C	24569441	1	2	141	0	1	0	0	0	0	0	0	0	11621	1261	44	5		5	PCK2	14	24569441	Intron	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	1010236	24569441	82780099	152	35930											
LRFN5	145581	genome.wustl.edu	37	chr14	42360955	42360955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctaccactacctctgctttgCctccttcctggacttcaagc	6	13	5	17	0	2	0	1	0	1	0	4	1	4	1	5	1	5	1	5	1	3	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr14:42360955C>T	ENST00000298119.4	+	4	3077	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S	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	630						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)		CTCTGCTTTGCCTCCTTCCTG	0.458										HNSCC(30;0.082)																																							0													126	103	111					14																	42360955		2203	4300	6503	SO:0001583	missense	0			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.1888C>T	14.37:g.42360955C>T	ENSP00000298119:p.Pro630Ser		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P630S	ENST00000298119.4	37	c.1888	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	8.947	0.967294	0.18659	.	.	ENSG00000165379	ENST00000298119	T	0.40476	1.03	5.9	5.9	0.94986	.	0.000000	0.56097	D	0.000029	T	0.20740	0.0499	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	10	0.08599	T	0.76	.	11.0929	0.48125	0.0:0.9166:0.0:0.0834	.	630	Q96NI6	LRFN5_HUMAN	S	630	ENSP00000298119:P630S	ENSP00000298119:P630S	P	+	1	0	LRFN5	41430705	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.292000	0.59031	2.808000	0.96608	0.650000	0.86243	CCT	LRFN5	-	NULL	ENSG00000165379		0.458	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1		0	40	0	C	NM_152447		42360955	1			no_errors	ENST00000298119	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	42360955	C	T	42360955	3	4	141	1	0	0	0	0	1	0	0	0	8976	739	26	3	1894	3	LRFN5	14	42360955	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	17791514	42360955	64988585	153	35931											
GPHN	10243	genome.wustl.edu	37	chr14	67382739	67382739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtatgtggaatcagaGggaaaacgctcataattaac	14	9	11	7	1	2	1	2	0	0	1	2	3	2	3	1	3	2	2	1	3	6	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr14:67382739G>T	ENST00000315266.5	+	6	1530	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	GPHN_ENST00000478722.1_Missense_Mutation_p.G137W|GPHN_ENST00000305960.9_Missense_Mutation_p.G106W|GPHN_ENST00000543237.1_Missense_Mutation_p.G150W|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Missense_Mutation_p.G119W	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	137	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)		TGGAATCAGAGGGAAAACGCT	0.378			T	MLL	AL																																			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0													138	131	134					14																	67382739		2203	4300	6503	SO:0001583	missense	0			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.409G>T	14.37:g.67382739G>T	ENSP00000312771:p.Gly137Trp		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis	p.G137W	ENST00000315266.5	37	c.409	CCDS32103.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.130068	0.94473	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960;ENST00000555456	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.95	5.95	0.96441	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.90393	0.6993	M	0.87038	2.855	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;1.0;1.0;1.0;1.0	D	0.90916	0.4779	10	0.87932	D	0	-5.7805	20.3802	0.98930	0.0:0.0:1.0:0.0	.	106;150;137;137;119	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2;G3V582	.;.;GEPH_HUMAN;.;.	W	137;137;119;150;106;70	ENSP00000312771:G137W;ENSP00000417901:G137W;ENSP00000452220:G119W;ENSP00000438404:G150W;ENSP00000303019:G106W;ENSP00000450706:G70W	ENSP00000303019:G106W	G	+	1	0	GPHN	66452492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.822000	0.97130	0.563000	0.77884	GGG	GPHN	-	pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis	ENSG00000171723		0.378	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPHN	HGNC	protein_coding	OTTHUMT00000074299.2		0	61	0	G	NM_020806		67382739	1			no_errors	ENST00000478722	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	67382739	G	T	67382739	3	4	141	1	0	0	0	0	1	0	0	0	6636	1000	35	3	431	3	GPHN	14	67382739	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	25021784	67382739	39966801	154	35932											
CYP46A1	10858	genome.wustl.edu	37	chr14	100184390	100184390	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccgtcctcccttcccacaGgtcacgagacctctgccaac	8	7	6	20	2	2	1	1	0	1	1	5	2	5	1	6	1	2	0	6	1	1	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr14:100184390G>T	ENST00000261835.3	+	10	1011		c.e10-1		CYP46A1_ENST00000423126.2_Splice_Site|CYP46A1_ENST00000554176.1_Splice_Site	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCTTCCCACAGGTCACGAGAC	0.597																																																	0													115	83	94					14																	100184390		2203	4300	6503	SO:0001630	splice_region_variant	0			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.908-1G>T	14.37:g.100184390G>T			B4DHP8|E7EQG9|Q8N2B0	Splice_Site	SNP	-	e10-1	ENST00000261835.3	37	c.908-1	CCDS9954.1	14	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677475	0.29783	.	.	ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000380228;ENST00000554176;ENST00000556313	.	.	.	3.06	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8542	0.41075	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP46A1	99254143	1.000000	0.71417	0.993000	0.49108	0.604000	0.37047	5.579000	0.67457	2.036000	0.60181	0.455000	0.32223	.	CYP46A1	-	-	ENSG00000036530		0.597	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP46A1	HGNC	protein_coding	OTTHUMT00000413814.1		0	40	0	G		Intron	100184390	1			no_errors	ENST00000261835	ensembl	human	known	74_37	splice_site	10.00	36	4	SNP	0.993	T	T	100184390	G	T	100184390	5	4	141	1	0	0	0	0	0	0	1	0	4191	1014	35	3	945	3	CYP46A1	14	100184390	Splice_Site	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	32801651	100184390	7165150	155	35933											
C15orf2	23742	genome.wustl.edu	37	chr15	24923216	24923216	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggttctgggaacacacaAcccagcggcaacactgcctc	10	6	9	16	1	1	0	0	0	1	0	2	1	1	1	3	3	5	2	3	3	3	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:24923216A>G	ENST00000329468.2	+	1	2676	c.2202A>G	c.(2200-2202)caA>caG	p.Q734Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	734					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGAACACACAACCCAGCGGCA	0.542																																																	0													107	108	108					15																	24923216		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2202A>G	15.37:g.24923216A>G				Silent	SNP	NULL	p.Q734	ENST00000329468.2	37	c.2202	CCDS10015.1	15																																																																																			NPAP1	-	NULL	ENSG00000185823		0.542	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1		0	24	0	A	NM_018958		24923216	1			no_errors	ENST00000329468	ensembl	human	known	74_37	silent	29.03	22	9	SNP	0.000	G	G	24923216	A	G	24923216	2	3	141	1	0	0	0	0	0	0	0	1	1789	40	2	4		4	C15orf2	15	24923216	Silent	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09		24923216	77608176	156	35934											
ATP10A	57194	genome.wustl.edu	37	chr15	25959047	25959047	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcagttgtaggctctggcCgcatacaccagtgcggcctc	7	8	12	14	3	1	0	0	0	1	0	2	0	1	0	3	3	2	5	3	3	2	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:25959047C>T	ENST00000356865.6	-	10	2229	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	706					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)		AGGCTCTGGCCGCATACACCA	0.657																																																	0													54	51	52					15																	25959047		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2118G>A	15.37:g.25959047C>T			Q4G0S9|Q969I4	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.A706	ENST00000356865.6	37	c.2118	CCDS32178.1	15																																																																																			ATP10A	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.657	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1		0	50	0	C	NM_024490		25959047	-1			no_errors	ENST00000356865	ensembl	human	known	74_37	silent	20.51	31	8	SNP	0.132	T	T	25959047	C	T	25959047	2	4	141	1	0	0	0	0	0	0	0	1	1117	639	23	1		1	ATP10A	15	25959047	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	1035831	25959047	76572345	157	35935											
TUBGCP4	27229	genome.wustl.edu	37	chr15	43678414	43678414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattttgcaggatccattttGaaaaaccaggaagacacttt	14	13	7	7	0	0	2	0	1	0	1	1	4	1	4	2	2	2	1	2	2	4	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:43678414G>A	ENST00000260383.7	+	9	1154	c.900G>A	c.(898-900)ttG>ttA	p.L300L	TUBGCP4_ENST00000564079.1_Silent_p.L300L|TUBGCP4_ENST00000399460.3_Silent_p.L164L			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	300					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GATCCATTTTGAAAAACCAGG	0.517																																																	0													79	73	75					15																	43678414		1886	4120	6006	SO:0001819	synonymous_variant	0			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.900G>A	15.37:g.43678414G>A			B3KNK6|Q969X3|Q9NVF0	Silent	SNP	pfam_TUBGCP	p.L300	ENST00000260383.7	37	c.900		15																																																																																			TUBGCP4	-	pfam_TUBGCP	ENSG00000137822		0.517	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1		0	37	0	G	NM_014444		43678414	1			no_errors	ENST00000260383	ensembl	human	known	74_37	silent	16.67	30	6	SNP	1.000	A	A	43678414	G	A	43678414	2	1	141	1	0	0	0	0	0	0	0	1	16817	1281	45	3		3	TUBGCP4	15	43678414	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	17719367	43678414	58852978	158	35936											
LBXCOR1	390598	genome.wustl.edu	37	chr15	68120279	68120279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgccacctcctctggcGcggacggtcccgcaaactct	5	8	9	19	5	2	0	0	0	2	0	5	1	5	1	5	3	1	1	5	3	1	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:68120279G>A	ENST00000380035.2	+	2	2171	c.2113G>A	c.(2113-2115)Gcg>Acg	p.A705T	SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000554240.1_Missense_Mutation_p.A666T|SKOR1_ENST00000389002.1_Missense_Mutation_p.A661T|SKOR1_ENST00000554054.1_Missense_Mutation_p.A677T			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	705					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CTCCTCTGGCGCGGACGGTCC	0.761																																																	0													7	10	9					15																	68120279		2114	4148	6262	SO:0001583	missense	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2113G>A	15.37:g.68120279G>A	ENSP00000369374:p.Ala705Thr		A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.A705T	ENST00000380035.2	37	c.2113		15	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696582	0.30142	.	.	ENSG00000188779	ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	4.43	3.51	0.40186	.	0.818239	0.10869	N	0.625134	T	0.09555	0.0235	N	0.14661	0.345	0.09310	N	1	P	0.38642	0.641	B	0.30495	0.116	T	0.18587	-1.0332	10	0.26408	T	0.33	-1.894	12.4294	0.55565	0.0:0.1707:0.8293:0.0	.	661	P84550-3	.	T	666;677;705;661	ENSP00000451193:A666T;ENSP00000452361:A677T;ENSP00000369374:A705T;ENSP00000373654:A661T	ENSP00000369374:A705T	A	+	1	0	SKOR1	65907333	0.198000	0.23374	0.012000	0.15200	0.025000	0.11179	2.273000	0.43381	1.212000	0.43366	0.655000	0.94253	GCG	SKOR1	-	NULL	ENSG00000188779		0.761	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1		0	20	0	G	NM_001031807		68120279	1			no_errors	ENST00000380035	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.145	A	A	68120279	G	A	68120279	3	1	141	1	0	0	0	0	1	0	0	0	8683	1087	38	1	1991	1	LBXCOR1	15	68120279	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	24441865	68120279	34411113	159	35937											
SCAPER	49855	genome.wustl.edu	37	chr15	77064234	77064234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagatatttcagaagttCgaacataattgtctcgaata	15	12	7	7	2	2	2	1	0	1	2	4	4	2	2	0	0	2	2	0	0	6	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:77064234C>A	ENST00000563290.1	-	10	1192	c.1097G>T	c.(1096-1098)cGa>cTa	p.R366L	SCAPER_ENST00000538941.2_Missense_Mutation_p.R120L|SCAPER_ENST00000324767.7_Missense_Mutation_p.R366L			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	366						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						TTCAGAAGTTCGAACATAATT	0.353																																																	0													127	121	123					15																	77064234		1864	4113	5977	SO:0001583	missense	0			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.1097G>T	15.37:g.77064234C>A	ENSP00000454973:p.Arg366Leu		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.R366L	ENST00000563290.1	37	c.1097	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	5.714	0.316263	0.10789	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.22945	1.93;1.93	5.11	-4.13	0.03904	.	1.617060	0.03084	N	0.158850	T	0.17789	0.0427	N	0.22421	0.69	0.09310	N	1	B;B;B	0.15473	0.013;0.0;0.006	B;B;B	0.21546	0.035;0.001;0.016	T	0.34403	-0.9830	10	0.40728	T	0.16	.	8.3478	0.32284	0.0:0.1126:0.3937:0.4937	.	366;381;120	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	L	366;120;382	ENSP00000326924:R366L;ENSP00000442190:R120L	ENSP00000303560:R382L	R	-	2	0	SCAPER	74851289	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.150000	0.16263	-0.484000	0.06763	-0.291000	0.09656	CGA	SCAPER	-	NULL	ENSG00000140386		0.353	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1		0	24	0	C	NM_020843		77064234	-1			no_errors	ENST00000324767	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	A	A	77064234	C	A	77064234	3	1	141	1	0	0	0	0	1	0	0	0	13923	884	31	2	3197	2	SCAPER	15	77064234	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	8943955	77064234	25467158	160	35938											
BNC1	646	genome.wustl.edu	37	chr15	83926243	83926243	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttttgtgcaggttgggaTtctggctgtgtctgtttcga	3	17	15	6	1	2	0	0	0	2	0	3	2	2	1	0	4	1	5	0	4	0	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:83926243T>A	ENST00000345382.2	-	5	3021	c.2936A>T	c.(2935-2937)aAt>aTt	p.N979I	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.N972I	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	979					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAGGTTGGGATTCTGGCTGTG	0.473																																																	0													173	167	169					15																	83926243		2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2936A>T	15.37:g.83926243T>A	ENSP00000307041:p.Asn979Ile		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N979I	ENST00000345382.2	37	c.2936	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	T	27.9	4.877185	0.91664	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.57595	0.39	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.75615	2.305	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	T	0.76454	-0.2953	10	0.87932	D	0	-29.4264	16.379	0.83439	0.0:0.0:0.0:1.0	.	972;979	F5GY04;Q01954	.;BNC1_HUMAN	I	979;972	ENSP00000307041:N979I	ENSP00000307041:N979I	N	-	2	0	BNC1	81717247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.975000	0.88055	2.268000	0.75426	0.455000	0.32223	AAT	BNC1	-	smart_Znf_C2H2-like	ENSG00000169594		0.473	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1		0	72	0	T	NM_001717		83926243	-1			no_errors	ENST00000345382	ensembl	human	known	74_37	missense	5.48	68	4	SNP	1.000	A	A	83926243	T	A	83926243	3	1	141	1	0	0	0	0	1	0	0	0	1476	1493	52	5	52	5	BNC1	15	83926243	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	6862009	83926243	18605149	161	35939											
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84651856	84651856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggggaaacagggagtgtgtCccaaagctcgcatgcaaaaa	15	5	13	8	1	0	0	0	0	0	0	2	2	1	2	1	3	3	3	1	3	4	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:84651856C>T	ENST00000286744.5	+	21	3700	c.3476C>T	c.(3475-3477)tCc>tTc	p.S1159F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1159F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1159						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGAGTGTGTCCCAAAGCTCG	0.517																																																	0													52	51	52					15																	84651856		2203	4300	6503	SO:0001583	missense	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3476C>T	15.37:g.84651856C>T	ENSP00000286744:p.Ser1159Phe		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS	p.S1159F	ENST00000286744.5	37	c.3476	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490290	0.44249	.	.	ENSG00000156218	ENST00000286744	T	0.65549	-0.16	5.23	5.23	0.72850	.	0.267871	0.19965	N	0.102122	T	0.45074	0.1324	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.002	T	0.38373	-0.9664	10	0.46703	T	0.11	.	13.1556	0.59516	0.0:0.923:0.0:0.077	.	1159;1159	P82987-2;P82987	.;ATL3_HUMAN	F	1159	ENSP00000286744:S1159F	ENSP00000286744:S1159F	S	+	2	0	ADAMTSL3	82442860	0.077000	0.21312	0.046000	0.18839	0.330000	0.28571	1.084000	0.30828	2.422000	0.82143	0.557000	0.71058	TCC	ADAMTSL3	-	NULL	ENSG00000156218		0.517	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2		0	22	0	C	NM_207517		84651856	1			no_errors	ENST00000286744	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.024	T	T	84651856	C	T	84651856	3	4	141	1	0	0	0	0	1	0	0	0	276	855	30	3	3554	3	ADAMTSL3	15	84651856	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	725613	84651856	17879536	162	35940											
IQGAP1	8826	genome.wustl.edu	37	chr15	91016157	91016157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcaccaggctgcaggctcGctgccgtggatacttagttc	7	10	12	12	2	1	0	1	0	0	0	3	2	1	1	2	3	3	5	2	3	2	3	rs200740824		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:91016157G>A	ENST00000268182.5	+	19	2388	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R183H	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	755	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTGCAGGCTCGCTGCCGTGGA	0.502																																																	0													100	101	101					15																	91016157		2198	4298	6496	SO:0001583	missense	0			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.2264G>A	15.37:g.91016157G>A	ENSP00000268182:p.Arg755His		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.R755H	ENST00000268182.5	37	c.2264	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081698	0.36758	.	.	ENSG00000140575	ENST00000268182	T	0.24908	1.83	6.02	5.06	0.68205	.	0.253406	0.41712	D	0.000829	T	0.27454	0.0674	L	0.60845	1.875	0.44359	D	0.997255	B	0.06786	0.001	B	0.10450	0.005	T	0.08310	-1.0728	10	0.13108	T	0.6	-6.6636	18.0989	0.89499	0.0:0.1298:0.8702:0.0	.	755	P46940	IQGA1_HUMAN	H	755	ENSP00000268182:R755H	ENSP00000268182:R755H	R	+	2	0	IQGAP1	88817161	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	7.781000	0.85668	2.865000	0.98341	0.655000	0.94253	CGC	IQGAP1	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000140575		0.502	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1		0	31	0	G	NM_003870		91016157	1			no_errors	ENST00000268182	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.868	A	A	91016157	G	A	91016157	3	1	141	1	0	0	0	0	1	0	0	0	7841	1087	38	1	2338	1	IQGAP1	15	91016157	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	6364301	91016157	11515235	163	35941											
IGF1R	3480	genome.wustl.edu	37	chr15	99434636	99434636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgggcagctgcagcgcGcctgacaacgacacggcctg	7	5	14	15	4	0	1	0	1	0	0	0	2	0	1	3	2	5	3	3	2	1	0	rs370559574		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:99434636G>A	ENST00000268035.6	+	3	1334	c.723G>A	c.(721-723)gcG>gcA	p.A241A	IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Silent_p.A241A|RP11-654A16.1_ENST00000558736.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	241					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)"	GCTGCAGCGCGCCTGACAACG	0.637																																																	0													60	48	52					15																	99434636		2197	4297	6494	SO:0001819	synonymous_variant	0			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.723G>A	15.37:g.99434636G>A			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.A241	ENST00000268035.6	37	c.723	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	ENSG00000140443		0.637	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2		0	27	0	G	NM_000875		99434636	1			no_errors	ENST00000268035	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.001	A	A	99434636	G	A	99434636	2	1	141	1	0	0	0	0	0	0	0	1	7598	1074	38	1		1	IGF1R	15	99434636	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	8418479	99434636	3096756	164	35942											
SNRPA1	6627	genome.wustl.edu	37	chr15	101827875	101827875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccataccttaggtaagtcagCgatttgagagatgccagagg	12	9	12	8	1	1	3	1	1	0	2	1	5	1	3	3	2	3	1	3	2	3	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:101827875C>T	ENST00000254193.6	-	4	414	c.342G>A	c.(340-342)tcG>tcA	p.S114S	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	114					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)			GGTAAGTCAGCGATTTGAGAG	0.398																																																	0													113	102	106					15																	101827875		2203	4300	6503	SO:0001819	synonymous_variant	0			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.342G>A	15.37:g.101827875C>T			B2R5I6|Q8TBD2	Silent	SNP	smart_U2A'_phosphoprotein32A_C	p.S114	ENST00000254193.6	37	c.342	CCDS10391.1	15																																																																																			SNRPA1	-	NULL	ENSG00000131876		0.398	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPA1	HGNC	protein_coding	OTTHUMT00000313621.2		0	48	0	C	NM_003090		101827875	-1			no_errors	ENST00000254193	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.007	T	T	101827875	C	T	101827875	2	4	141	1	0	0	0	0	0	0	0	1	14905	755	27	1		1	SNRPA1	15	101827875	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	2393239	101827875	703517	165	35943											
CACNA1H	8912	genome.wustl.edu	37	chr16	1245071	1245071	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcggctccgagcgctgCaacatcctggaggtgagggg	7	6	18	10	3	0	1	0	1	0	0	2	4	2	2	2	5	4	3	2	5	1	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:1245071C>A	ENST00000348261.5	+	3	647	c.399C>A	c.(397-399)tgC>tgA	p.C133*	CACNA1H_ENST00000358590.4_Nonsense_Mutation_p.C133*|CACNA1H_ENST00000565831.1_Nonsense_Mutation_p.C133*	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	133					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)	CCGAGCGCTGCAACATCCtgg	0.647											OREG0023543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73	79	77					16																	1245071		2060	4179	6239	SO:0001587	stop_gained	0			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.399C>A	16.37:g.1245071C>A	ENSP00000334198:p.Cys133*	594	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.C133*	ENST00000348261.5	37	c.399	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362871	0.61403	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	.	.	.	4.48	0.843	0.18935	.	0.432998	0.25405	N	0.030910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9644	0.35867	0.0:0.6788:0.0:0.3212	.	.	.	.	X	133	.	ENSP00000334198:C133X	C	+	3	2	CACNA1H	1185072	0.328000	0.24687	0.708000	0.30435	0.104000	0.19210	0.830000	0.27462	0.456000	0.26937	-0.359000	0.07587	TGC	CACNA1H	-	prints_VDCC_T_a1su	ENSG00000196557		0.647	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1		0	81	0	C	NM_001005407		1245071	1			no_errors	ENST00000348261	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	0.324	A	A	1245071	C	A	1245071	4	1	141	1	0	0	0	0	0	1	0	0	2552	718	25	3	405	3	CACNA1H	16	1245071	Nonsense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09		1245071	89109682	166	35944											
ZC3H7A	29066	genome.wustl.edu	37	chr16	11876195	11876195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcctttttcttctctcctCggacacattggacatgttat	6	17	6	12	1	2	0	0	0	2	0	5	2	3	2	2	2	1	1	2	2	1	5	rs368731907		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:11876195C>T	ENST00000396516.2	-	1	213	c.16G>A	c.(16-18)Gag>Aag	p.E6K	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E6K|ZC3H7A_ENST00000575170.1_5'UTR			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	6						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CTTCTCTCCTCGGACACATTG	0.438																																																	0								C	LYS/GLU	0,4394		0,0,2197	240	206	217		16	4.3	1	16		217	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZC3H7A	NM_014153.3	56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	6/972	11876195	1,12993	2197	4300	6497	SO:0001583	missense	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.16G>A	16.37:g.11876195C>T	ENSP00000379773:p.Glu6Lys		D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E6K	ENST00000396516.2	37	c.16	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283955	0.59867	0.0	1.16E-4	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.09445	2.98;2.98	5.28	4.29	0.51040	.	0.266407	0.44285	D	0.000471	T	0.06600	0.0169	L	0.34521	1.04	0.80722	D	1	P	0.36412	0.552	B	0.27608	0.081	T	0.41627	-0.9498	10	0.19590	T	0.45	.	8.6127	0.33813	0.0:0.7654:0.1546:0.08	.	6	Q8IWR0	Z3H7A_HUMAN	K	6	ENSP00000347999:E6K;ENSP00000379773:E6K	ENSP00000347999:E6K	E	-	1	0	ZC3H7A	11783696	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.506000	0.53364	1.291000	0.44653	0.491000	0.48974	GAG	ZC3H7A	-	NULL	ENSG00000122299		0.438	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1		0	39	0	C	NM_014153		11876195	-1			no_errors	ENST00000355758	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	T	T	11876195	C	T	11876195	3	4	141	1	0	0	0	0	1	0	0	0	17620	893	31	1	2987	1	ZC3H7A	16	11876195	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	10631124	11876195	78478558	167	35945											
DNAH3	55567	genome.wustl.edu	37	chr16	20976007	20976007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatacaatgatgccattgtCgatggagaaggagtcaacgg	13	8	14	6	2	1	2	1	1	0	1	2	6	1	4	1	4	3	0	1	4	4	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:20976007C>T	ENST00000261383.3	-	53	9198	c.9199G>A	c.(9199-9201)Gac>Aac	p.D3067N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3067	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)|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)		ATGCCATTGTCGATGGAGAAG	0.502																																																	0													79	71	74					16																	20976007		2201	4300	6501	SO:0001583	missense	0			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.9199G>A	16.37:g.20976007C>T	ENSP00000261383:p.Asp3067Asn		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.D3067N	ENST00000261383.3	37	c.9199	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798808	0.90538	.	.	ENSG00000158486	ENST00000261383	T	0.42900	0.96	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81243	-0.1021	10	0.87932	D	0	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	3067	Q8TD57	DYH3_HUMAN	N	3067	ENSP00000261383:D3067N	ENSP00000261383:D3067N	D	-	1	0	DNAH3	20883508	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.818000	0.86416	2.797000	0.96272	0.561000	0.74099	GAC	DNAH3	-	NULL	ENSG00000158486		0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1		0	21	0	C	NM_017539		20976007	-1			no_errors	ENST00000261383	ensembl	human	known	74_37	missense	47.83	12	11	SNP	1.000	T	T	20976007	C	T	20976007	3	4	141	1	0	0	0	0	1	0	0	0	4617	884	31	1	3190	1	DNAH3	16	20976007	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	9099812	20976007	69378746	168	35946											
PRKCB	5579	genome.wustl.edu	37	chr16	24196805	24196805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgaaggggaggatgaaGatgaactcttccaatccatc	12	10	10	9	0	1	4	0	3	1	1	4	6	3	6	3	3	1	0	3	3	4	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:24196805G>T	ENST00000321728.7	+	15	1814	c.1639G>T	c.(1639-1641)Gat>Tat	p.D547Y	PRKCB_ENST00000303531.7_Missense_Mutation_p.D547Y	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	547	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GGAGGATGAAGATGAACTCTT	0.527																																																	0													133	108	116					16																	24196805		2197	4300	6497	SO:0001583	missense	0			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.1639G>T	16.37:g.24196805G>T	ENSP00000318315:p.Asp547Tyr		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.D547Y	ENST00000321728.7	37	c.1639	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977007	0.92982	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.65364	-0.15;-0.15	5.72	5.72	0.89469	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	0.68220	0.2977	N	0.17312	0.475	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74674	0.972;0.984	T	0.72534	-0.4264	10	0.87932	D	0	.	19.2318	0.93843	0.0:0.0:1.0:0.0	.	547;547	P05771-2;P05771	.;KPCB_HUMAN	Y	547	ENSP00000318315:D547Y;ENSP00000305355:D547Y	ENSP00000305355:D547Y	D	+	1	0	PRKCB	24104306	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	GAT	PRKCB	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom	ENSG00000166501		0.527	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2		0	16	0	G	NM_212535		24196805	1			no_errors	ENST00000303531	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	T	T	24196805	G	T	24196805	3	4	141	1	0	0	0	0	1	0	0	0	12550	942	33	3	1697	3	PRKCB	16	24196805	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	3220798	24196805	66157948	169	35947											
NUPR1	26471	genome.wustl.edu	37	chr16	28549402	28549402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggtcaccagtttcctctCgtgcccgccagggctggggc	3	10	13	15	2	2	0	1	0	1	0	4	0	3	0	4	4	1	2	4	4	0	2	rs371618392		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:28549402C>T	ENST00000324873.6	-	2	453	c.187G>A	c.(187-189)Gag>Aag	p.E63K	NUPR1_ENST00000395641.2_Missense_Mutation_p.E81K	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	63					acute inflammatory response (GO:0002526)|cell growth (GO:0016049)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male gonad development (GO:0008584)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein modification process (GO:0031401)|protein acetylation (GO:0006473)|protein complex assembly (GO:0006461)|regulation of female gonad development (GO:2000194)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E63K(1)		breast(1)|large_intestine(1)|lung(1)	3						AGTTTCCTCTCGTGCCCGCCA	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)						C	LYS/GLU,LYS/GLU	0,4394		0,0,2197	124	141	135		241,187	5.5	1	16		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NUPR1	NM_001042483.1,NM_012385.2	56,56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	81/101,63/83	28549402	1,12993	2197	4300	6497	SO:0001583	missense	0			AF069073	CCDS10634.1, CCDS42137.1	16p11.2	2012-07-04	2012-07-04		ENSG00000176046	ENSG00000176046			29990	protein-coding gene	gene with protein product	"candidate of metastasis 1"	614812				9405444, 10493524, 10092851	Standard	NM_012385		Approved	COM1, p8	uc002dqd.1	O60356	OTTHUMG00000131764	ENST00000324873.6:c.187G>A	16.37:g.28549402C>T	ENSP00000315559:p.Glu63Lys		B2R5C4|O60357|Q6FGG3	Missense_Mutation	SNP	pfam_Nuclear_phosphoprot_p8_DNA-bd	p.E63K	ENST00000324873.6	37	c.187	CCDS10634.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.936202	0.97122	0.0	1.16E-4	ENSG00000176046	ENST00000324873;ENST00000395641	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.79323	0.4426	.	.	.	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	T	0.80876	-0.1186	8	0.66056	D	0.02	-24.4866	15.2482	0.73523	0.0:1.0:0.0:0.0	.	63	O60356	NUPR1_HUMAN	K	63;81	.	ENSP00000315559:E63K	E	-	1	0	NUPR1	28456903	0.998000	0.40836	0.998000	0.56505	0.989000	0.77384	4.683000	0.61679	2.748000	0.94277	0.655000	0.94253	GAG	NUPR1	-	pfam_Nuclear_phosphoprot_p8_DNA-bd	ENSG00000176046		0.622	NUPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUPR1	HGNC	protein_coding	OTTHUMT00000254692.2		0	27	0	C	NM_012385		28549402	-1			no_errors	ENST00000324873	ensembl	human	known	74_37	missense	28.30	38	15	SNP	1.000	T	T	28549402	C	T	28549402	3	4	141	1	0	0	0	0	1	0	0	0	10815	893	31	1	65	1	NUPR1	16	28549402	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	4352597	28549402	61805351	170	35948											
TGFB1I1	7041	genome.wustl.edu	37	chr16	31485023	31485023	+	Silent	SNP	A	A	G	1	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	acagggtctggggagtcttcAggagcctcgggggacaagga	9	6	18	8	1	3	0	1	0	2	0	4	4	3	4	1	7	1	0	1	7	1	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:31485023A>G	ENST00000394863.3	+	3	280	c.150A>G	c.(148-150)tcA>tcG	p.S50S	TGFB1I1_ENST00000394858.2_Silent_p.S33S|TGFB1I1_ENST00000567607.1_Silent_p.S33S|TGFB1I1_ENST00000361773.3_Silent_p.S33S	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	50	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GGGAGTCTTCAGGAGCCTCGG	0.632																																																	0													65	74	71					16																	31485023		2197	4300	6497	SO:0001819	synonymous_variant	0			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.150A>G	16.37:g.31485023A>G			B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	NULL	p.R12G	ENST00000394863.3	37	c.34	CCDS42156.1	16																																																																																			TGFB1I1	-	NULL	ENSG00000140682		0.632	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFB1I1	HGNC	protein_coding	OTTHUMT00000255630.3		0	33	0	A			31485023	1			no_errors	ENST00000567066	ensembl	human	known	74_37	missense	32.50	27	13	SNP	0.912	G	G	31485023	A	G	31485023	2	3	141	1	0	0	0	0	0	0	0	1	15864	175	7	4		4	TGFB1I1	16	31485023	Silent	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	2935621	31485023	58869730	171	35949											
MT1F	4494	genome.wustl.edu	37	chr16	56693025	56693025	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggctgtagcaagtgtgcCcagggctgtgtttgcaaagg	7	10	17	7	0	0	0	0	0	0	0	0	0	0	0	1	3	3	6	1	3	3	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:56693025C>T	ENST00000334350.6	+	3	500	c.135C>T	c.(133-135)gcC>gcT	p.A45A	MT1F_ENST00000394501.2_Silent_p.A46A|MT1F_ENST00000568475.1_3'UTR			P04733	MT1F_HUMAN	metallothionein 1F	45	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)										GCAAGTGTGCCCAGGGCTGTG	0.582																																					Colon(159;794 1866 3818 8748 33331)												0													104	106	105					16																	56693025		2198	4300	6498	SO:0001819	synonymous_variant	0			BC029453	CCDS32456.1	16q13	2008-02-05	2007-03-02			ENSG00000198417		"Metallothioneins"	7398	protein-coding gene	gene with protein product		156352		MT1		6089206, 2581970	Standard	NM_005949		Approved		uc002ejt.3	P04733		ENST00000334350.6:c.135C>T	16.37:g.56693025C>T			Q9UI97	Silent	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.A46	ENST00000334350.6	37	c.138	CCDS32456.1	16																																																																																			MT1F	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	ENSG00000198417		0.582	MT1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1F	HGNC	protein_coding	OTTHUMT00000433995.2		0	91	0	C	NM_005949		56693025	1			no_errors	ENST00000394501	ensembl	human	known	74_37	silent	21.59	69	19	SNP	1.000	T	T	56693025	C	T	56693025	2	4	141	1	0	0	0	0	0	0	0	1	9938	610	22	3		3	MT1F	16	56693025	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	25208002	56693025	33661728	172	35950											
NFATC3	4775	genome.wustl.edu	37	chr16	68224878	68224878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgccacagttgcagtGtagagatgagagtgttagta	11	11	12	7	0	1	2	0	1	1	2	1	4	1	2	2	0	2	5	2	0	3	4	rs374889805		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:68224878G>A	ENST00000346183.3	+	9	2330	c.2306G>A	c.(2305-2307)tGt>tAt	p.C769Y	NFATC3_ENST00000349223.5_Missense_Mutation_p.C769Y|SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000575270.1_Missense_Mutation_p.C769Y|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.C769Y	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	769					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)		CAGTTGCAGTGTAGAGATGAG	0.453																																																	0								G	TYR/CYS,TYR/CYS,TYR/CYS	0,4396		0,0,2198	175	150	158		2306,2306,2306	5.6	1	16		158	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	NFATC3	NM_004555.3,NM_173163.2,NM_173165.2	194,194,194	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	769/1069,769/1066,769/1076	68224878	2,12994	2198	4300	6498	SO:0001583	missense	0			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.2306G>A	16.37:g.68224878G>A	ENSP00000300659:p.Cys769Tyr		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.C769Y	ENST00000346183.3	37	c.2306	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762103	0.49468	0.0	2.33E-4	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.08193	3.12;3.13;3.12	5.55	5.55	0.83447	.	0.120187	0.64402	D	0.000008	T	0.09158	0.0226	L	0.29908	0.895	0.45634	D	0.998563	P;D;P;P	0.56287	0.947;0.975;0.947;0.947	B;P;B;B	0.46543	0.272;0.52;0.355;0.355	T	0.07654	-1.0761	10	0.02654	T	1	-1.6919	19.5071	0.95124	0.0:0.0:1.0:0.0	.	769;769;769;769	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Y	769;769;769;290	ENSP00000264008:C769Y;ENSP00000300659:C769Y;ENSP00000331324:C769Y	ENSP00000331324:C769Y	C	+	2	0	NFATC3	66782379	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.597000	0.74118	2.617000	0.88574	0.557000	0.71058	TGT	NFATC3	-	NULL	ENSG00000072736		0.453	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2		0	27	0	G	NM_004555		68224878	1			no_errors	ENST00000346183	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	68224878	G	A	68224878	3	1	141	1	0	0	0	0	1	0	0	0	10403	1377	48	3	2340	3	NFATC3	16	68224878	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	11531853	68224878	22129875	173	35951											
TP53	7157	genome.wustl.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs397516437|rs121912651		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	0	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	54	0	G	NM_000546		7577539	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	52.94	24	27	SNP	1.000	A	A	7577539	G	A	7577539	3	1	141	1	0	0	0	0	1	0	0	0	16429	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09		7577539	73617671	174	35952											
KDM6B	23135	genome.wustl.edu	37	chr17	7752830	7752830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctggaaagaaggctcGggaggaagccccagggccac	10	4	15	12	1	0	1	0	0	0	1	2	4	1	4	4	5	1	1	4	5	3	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:7752830G>A	ENST00000448097.2	+	11	3555	c.3224G>A	c.(3223-3225)cGg>cAg	p.R1075Q	KDM6B_ENST00000254846.5_Missense_Mutation_p.R1075Q			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1075	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AAGAAGGCTCGGGAGGAAGCC	0.662																																																	0													14	17	16					17																	7752830		2196	4287	6483	SO:0001583	missense	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3224G>A	17.37:g.7752830G>A	ENSP00000412513:p.Arg1075Gln		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R1075Q	ENST00000448097.2	37	c.3224		17	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426000	0.25726	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.32988	1.43;1.44	3.96	2.95	0.34219	.	0.416880	0.21041	N	0.081171	T	0.15652	0.0377	N	0.14661	0.345	0.26009	N	0.982015	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.19778	-1.0295	10	0.21014	T	0.42	-4.3542	8.3098	0.32064	0.1223:0.0:0.8777:0.0	.	1075;1075	O15054;O15054-1	KDM6B_HUMAN;.	Q	1075	ENSP00000254846:R1075Q;ENSP00000412513:R1075Q	ENSP00000254846:R1075Q	R	+	2	0	KDM6B	7693555	0.746000	0.28272	0.968000	0.41197	0.875000	0.50365	1.475000	0.35409	0.965000	0.38133	0.462000	0.41574	CGG	KDM6B	-	NULL	ENSG00000132510		0.662	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1		0	75	0	G	XM_043272		7752830	1			no_errors	ENST00000254846	ensembl	human	known	74_37	missense	58.21	28	39	SNP	0.904	A	A	7752830	G	A	7752830	3	1	141	1	0	0	0	0	1	0	0	0	8165	1116	39	1	3254	1	KDM6B	17	7752830	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	175291	7752830	73442380	175	35953											
MYH4	4622	genome.wustl.edu	37	chr17	10356581	10356581	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcctcctggagagccttcTtctccttggtcagcttagca	5	12	11	13	0	3	1	1	0	2	1	5	2	4	1	4	3	3	2	4	3	1	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:10356581T>G	ENST00000255381.2	-	24	3109	c.2999A>C	c.(2998-3000)aAg>aCg	p.K1000T	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1000					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						GAGAGCCTTCTTCTCCTTGGT	0.488																																																	0													231	212	218					17																	10356581		2203	4298	6501	SO:0001583	missense	0				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.2999A>C	17.37:g.10356581T>G	ENSP00000255381:p.Lys1000Thr			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1000T	ENST00000255381.2	37	c.2999	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	T	20.5	4.003935	0.74932	.	.	ENSG00000141048	ENST00000255381	D	0.88201	-2.35	5.19	5.19	0.71726	.	0.000000	0.39146	U	0.001450	D	0.93690	0.7984	H	0.97682	4.055	0.58432	D	0.999998	B	0.33171	0.4	B	0.37239	0.244	D	0.94435	0.7653	10	0.66056	D	0.02	.	15.3343	0.74238	0.0:0.0:0.0:1.0	.	1000	Q9Y623	MYH4_HUMAN	T	1000	ENSP00000255381:K1000T	ENSP00000255381:K1000T	K	-	2	0	MYH4	10297306	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.138000	0.71717	2.078000	0.62432	0.482000	0.46254	AAG	MYH4	-	NULL	ENSG00000264424		0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1		0	136	0	T	NM_017533		10356581	-1			no_errors	ENST00000255381	ensembl	human	known	74_37	missense	44.55	61	49	SNP	1.000	G	G	10356581	T	G	10356581	3	3	141	1	0	0	0	0	1	0	0	0	10075	1609	56	4	2888	4	MYH4	17	10356581	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	2603751	10356581	70838629	176	35954											
MYH2	4620	genome.wustl.edu	37	chr17	10428384	10428384	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcatgttcaagagatgccTtaatgacagcaagaggtgac	13	10	10	8	0	2	4	2	2	0	2	2	5	2	4	1	1	2	2	1	1	3	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:10428384T>G	ENST00000245503.5	-	34	5047		c.e34-2		RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Splice_Site|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGAGATGCCTTAATGACAGC	0.388																																																	0													77	78	78					17																	10428384		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4663-2A>C	17.37:g.10428384T>G			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	-	e32-2	ENST00000245503.5	37	c.4663-2	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	T	17.25	3.340829	0.60963	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4951	0.75643	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2	10369109	1.000000	0.71417	0.940000	0.37924	0.991000	0.79684	7.846000	0.86887	2.247000	0.74100	0.482000	0.46254	.	MYH2	-	-	ENSG00000125414		0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3		0	63	0	T	NM_017534	Intron	10428384	-1			no_errors	ENST00000245503	ensembl	human	known	74_37	splice_site	47.06	27	24	SNP	0.992	G	G	10428384	T	G	10428384	5	3	141	1	0	0	0	0	0	0	1	0	10073	1623	56	4	1192	4	MYH2	17	10428384	Splice_Site	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	71803	10428384	70766826	177	35955											
KIAA0100	9703	genome.wustl.edu	37	chr17	26958852	26958852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccttgaggtataagcCgctgagtcccccgagtgaag	9	11	11	10	2	0	3	0	3	0	0	1	4	1	3	4	1	2	2	4	1	4	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:26958852C>T	ENST00000528896.2	-	22	4156	c.4082G>A	c.(4081-4083)cGg>cAg	p.R1361Q	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1218Q|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1218Q|RP11-192H23.7_ENST00000583787.1_RNA|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1361						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)					AGGTATAAGCCGCTGAGTCCC	0.493																																																	0													100	104	103					17																	26958852		2203	4300	6503	SO:0001583	missense	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	ENST00000528896.2:c.4082G>A	17.37:g.26958852C>T	ENSP00000436773:p.Arg1361Gln		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.R1361Q	ENST00000528896.2	37	c.4082	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.304561	0.95601	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.23950	1.88;1.88	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.13575	-1.0504	10	0.13470	T	0.59	.	20.0793	0.97766	0.0:1.0:0.0:0.0	.	1361	Q14667	K0100_HUMAN	Q	1361;1331;1361;1218	ENSP00000436773:R1361Q;ENSP00000446443:R1218Q	ENSP00000005905:R1361Q	R	-	2	0	KIAA0100	23982979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.735000	0.93741	0.650000	0.86243	CGG	KIAA0100	-	NULL	ENSG00000007202		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3		0	20	0	C	NM_014680		26958852	-1			no_errors	ENST00000528896	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	26958852	C	T	26958852	3	4	141	1	0	0	0	0	1	0	0	0	8181	652	23	1	2697	1	KIAA0100	17	26958852	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	16530468	26958852	54236358	178	35956											
GAS2L2	246176	genome.wustl.edu	37	chr17	34077215	34077215	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgatctcctcctccagctGcacgagtgtgggcgccgcaa	6	8	11	16	4	1	0	0	0	1	0	5	2	3	0	4	1	2	3	4	1	1	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:34077215G>A	ENST00000254466.6	-	2	535	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	GAS2L2_ENST00000587565.1_Nonsense_Mutation_p.Q170*	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	170					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCTCCAGCTGCACGAGTGTG	0.711																																																	0													91	104	100					17																	34077215		2202	4298	6500	SO:0001587	stop_gained	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.508C>T	17.37:g.34077215G>A	ENSP00000254466:p.Gln170*		Q8NHY4	Nonsense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.Q170*	ENST00000254466.6	37	c.508	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.627506	0.96671	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	.	.	.	5.03	4.04	0.47022	.	0.726005	0.13005	N	0.421363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-0.0334	12.8961	0.58099	0.0805:0.0:0.9195:0.0	.	.	.	.	X	170	.	ENSP00000254466:Q170X	Q	-	1	0	GAS2L2	31101328	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.327000	0.79147	1.074000	0.40909	0.561000	0.74099	CAG	GAS2L2	-	superfamily_CH-domain	ENSG00000132139		0.711	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1		0	42	0	G	NM_139285		34077215	-1			no_errors	ENST00000254466	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	A	A	34077215	G	A	34077215	4	1	141	1	0	0	0	0	0	1	0	0	6272	1328	46	3	2154	3	GAS2L2	17	34077215	Nonsense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	7118363	34077215	47117995	179	35957											
MED1	5469	genome.wustl.edu	37	chr17	37576108	37576108	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaagggttccctgtagacTtcggccatctggaagaggag	11	8	13	9	1	1	2	0	0	1	2	3	4	2	4	2	4	1	2	2	4	4	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:37576108T>G	ENST00000394287.3	-	14	1364	c.1159A>C	c.(1159-1161)Agt>Cgt	p.S387R	MED1_ENST00000300651.6_Missense_Mutation_p.S387R			O95243	MBD4_HUMAN	mediator complex subunit 1	0				S -> L (in Ref. 6; BAG64144). {ECO:0000305}.	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)		CCCTGTAGACTTCGGCCATCT	0.478										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													115	111	112					17																	37576108		2203	4300	6503	SO:0001583	missense	0			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.1159A>C	17.37:g.37576108T>G	ENSP00000377828:p.Ser387Arg		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.S387R	ENST00000394287.3	37	c.1159		17	.	.	.	.	.	.	.	.	.	.	T	23.1	4.373905	0.82573	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.33654	1.4	5.78	5.78	0.91487	Mediator complex, subunit Med1, metazoa/fungi (1);	.	.	.	.	T	0.47210	0.1433	L	0.39397	1.21	0.49582	D	0.999806	D;D	0.71674	0.998;0.958	D;P	0.66351	0.943;0.663	T	0.39663	-0.9603	9	0.42905	T	0.14	-7.6623	11.2304	0.48910	0.1366:0.0:0.0:0.8634	.	387;387	Q15648;Q15648-3	MED1_HUMAN;.	R	387	ENSP00000300651:S387R	ENSP00000300651:S387R	S	-	1	0	MED1	34829634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.096000	0.71446	2.205000	0.71048	0.477000	0.44152	AGT	MED1	-	pfam_Mediator_Med1_met/fun	ENSG00000125686		0.478	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1		0	56	0	T	NM_004774		37576108	-1			no_errors	ENST00000300651	ensembl	human	known	74_37	missense	37.84	46	28	SNP	0.998	G	G	37576108	T	G	37576108	3	3	141	1	0	0	0	0	1	0	0	0	9463	1609	56	4	3602	4	MED1	17	37576108	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	3498893	37576108	43619102	180	35958											
ERBB2	2064	genome.wustl.edu	37	chr17	37881021	37881021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctccccatatgtctccCgccttctgggcatctgcctg	3	12	10	16	1	3	0	0	0	3	0	5	0	4	0	5	2	1	2	5	2	1	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:37881021C>T	ENST00000269571.5	+	20	2509	c.2350C>T	c.(2350-2352)Cgc>Tgc	p.R784C	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000406381.2_Missense_Mutation_p.R754C|ERBB2_ENST00000584450.1_Missense_Mutation_p.R784C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R754C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R769C|ERBB2_ENST00000445658.2_Missense_Mutation_p.R508C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R754C			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	784	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)	p.R784C(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)	ATATGTCTCCCGCCTTCTGGG	0.597		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	1	Substitution - Missense(1)	lung(1)											88	85	86					17																	37881021		2203	4300	6503	SO:0001583	missense	0			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.2350C>T	17.37:g.37881021C>T	ENSP00000269571:p.Arg784Cys		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R784C	ENST00000269571.5	37	c.2350	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412396	0.62511	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.80008	0.4545	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.82289	-0.0531	9	0.87932	D	0	.	18.5686	0.91126	0.0:1.0:0.0:0.0	.	508;769;784	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	C	754;769;508;784;754	ENSP00000385185:R754C;ENSP00000446466:R769C;ENSP00000404047:R508C;ENSP00000269571:R784C;ENSP00000443562:R754C	ENSP00000269571:R784C	R	+	1	0	ERBB2	35134547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.952000	0.70282	2.478000	0.83669	0.563000	0.77884	CGC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141736		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2		0	69	0	C			37881021	1			no_errors	ENST00000269571	ensembl	human	known	74_37	missense	21.48	106	29	SNP	1.000	T	T	37881021	C	T	37881021	3	4	141	1	0	0	0	0	1	0	0	0	5222	652	23	1	2428	1	ERBB2	17	37881021	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	304913	37881021	43314189	181	35959											
C17orf71	55181	genome.wustl.edu	37	chr17	57288842	57288842	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactggagagctaacatctaAgattttaagcagtattaaag	16	11	8	6	0	1	2	0	0	1	2	1	3	1	2	0	1	3	3	0	1	6	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:57288842A>C	ENST00000543872.2	+	2	1694	c.1430A>C	c.(1429-1431)aAg>aCg	p.K477T	SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.K477T|SMG8_ENST00000300917.5_Missense_Mutation_p.K477T			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	477					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						CTAACATCTAAGATTTTAAGC	0.423																																																	0													56	59	58					17																	57288842		2203	4300	6503	SO:0001583	missense	0			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.1430A>C	17.37:g.57288842A>C	ENSP00000438748:p.Lys477Thr		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.K477T	ENST00000543872.2	37	c.1430	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511887	0.64522	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.55052	0.54;0.54	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	L	0.49350	1.555	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.69610	-0.5099	10	0.66056	D	0.02	-13.9788	14.9636	0.71174	1.0:0.0:0.0:0.0	.	477	Q8ND04	SMG8_HUMAN	T	477	ENSP00000300917:K477T;ENSP00000438748:K477T	ENSP00000300917:K477T	K	+	2	0	SMG8	54643624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.124000	0.65301	0.533000	0.62120	AAG	SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.423	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2		0	42	0	A	NM_018149		57288842	1			no_errors	ENST00000300917	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	C	C	57288842	A	C	57288842	3	2	141	1	0	0	0	0	1	0	0	0	1884	72	3	4	1432	4	C17orf71	17	57288842	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	19407821	57288842	23906368	182	35960											
TBX2	6909	genome.wustl.edu	37	chr17	59485501	59485501	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgcctcggctttgccCgccactagtgctgcagctgc	4	8	12	17	3	0	0	0	0	0	0	1	0	0	0	4	1	6	5	4	1	1	2	rs61756219	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:59485501C>T	ENST00000240328.3	+	7	2054	c.1773C>T	c.(1771-1773)ccC>ccT	p.P591P	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	591	Ala-rich.|Repression domain 1 (RD1).				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						cggctttgcccgccactagtg	0.672																																					GBM(3;187 253 11467 14965 23079)												0													12	14	14					17																	59485501		2040	4064	6104	SO:0001819	synonymous_variant	0			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1773C>T	17.37:g.59485501C>T			Q16424|Q7Z647	Silent	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.P591	ENST00000240328.3	37	c.1773	CCDS11627.2	17																																																																																			TBX2	-	NULL	ENSG00000121068		0.672	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2		0	18	0	C	NM_005994		59485501	1			no_errors	ENST00000240328	ensembl	human	novel	74_37	silent	30.00	14	6	SNP	0.720	T	T	59485501	C	T	59485501	2	4	141	1	0	0	0	0	0	0	0	1	15702	639	23	1		1	TBX2	17	59485501	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	2196659	59485501	21709709	183	35961											
MED13	9969	genome.wustl.edu	37	chr17	60072604	60072604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcaacaaatgcatatGgatcaattttaggttcttgt	11	16	6	8	0	3	0	2	0	1	0	4	1	4	1	1	2	2	2	1	2	5	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:60072604G>T	ENST00000397786.2	-	10	2166	c.2090C>A	c.(2089-2091)cCa>cAa	p.P697Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	697					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						AAATGCATATGGATCAATTTT	0.333																																																	0													209	181	190					17																	60072604		1837	4087	5924	SO:0001583	missense	0			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.2090C>A	17.37:g.60072604G>T	ENSP00000380888:p.Pro697Gln		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.P697Q	ENST00000397786.2	37	c.2090	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482308	0.84747	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.87334	-2.24	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.92805	0.7712	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93188	0.6580	10	0.87932	D	0	-5.0518	19.3563	0.94416	0.0:0.0:1.0:0.0	.	697	Q9UHV7	MED13_HUMAN	Q	697;696	ENSP00000380888:P697Q	ENSP00000262436:P696Q	P	-	2	0	MED13	57427386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.577000	0.90773	2.648000	0.89879	0.557000	0.71058	CCA	MED13	-	NULL	ENSG00000108510		0.333	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1		0	54	0	G	NM_005121		60072604	-1			no_errors	ENST00000397786	ensembl	human	known	74_37	missense	13.89	62	10	SNP	1.000	T	T	60072604	G	T	60072604	3	4	141	1	0	0	0	0	1	0	0	0	9468	1348	47	3	4518	3	MED13	17	60072604	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	587103	60072604	21122606	184	35962											
SEC14L1	6397	genome.wustl.edu	37	chr17	75190773	75190773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttaaagggaaaggaaatcatCgaatactaccttcgccaatt	16	10	7	8	2	1	0	1	0	0	0	3	3	1	2	2	2	2	0	2	2	8	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:75190773C>G	ENST00000413679.2	+	7	792	c.489C>G	c.(487-489)atC>atG	p.I163M	SEC14L1_ENST00000443798.4_Missense_Mutation_p.I163M|SEC14L1_ENST00000585618.1_Missense_Mutation_p.I163M|SEC14L1_ENST00000430767.4_Missense_Mutation_p.I163M|SEC14L1_ENST00000431431.2_Missense_Mutation_p.I129M|SEC14L1_ENST00000591437.1_Missense_Mutation_p.I129M|SEC14L1_ENST00000392476.2_Missense_Mutation_p.I163M|SEC14L1_ENST00000436233.4_Missense_Mutation_p.I163M	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	163	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGGAAATCATCGAATACTACC	0.388																																																	0													74	71	72					17																	75190773		2203	4300	6503	SO:0001583	missense	0			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.489C>G	17.37:g.75190773C>G	ENSP00000394716:p.Ile163Met		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.I163M	ENST00000413679.2	37	c.489	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438944	0.43326	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.36	-10.7	0.00240	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	M	0.87547	2.89	0.33851	D	0.632639	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.76482	-0.2943	10	0.87932	D	0	-26.5113	17.0921	0.86625	0.0832:0.6948:0.0:0.222	.	163;163	Q92503-2;Q92503	.;S14L1_HUMAN	M	163;163;163;163;163;129	ENSP00000376268:I163M;ENSP00000406030:I163M;ENSP00000390392:I163M;ENSP00000408169:I163M;ENSP00000394716:I163M;ENSP00000389838:I129M	ENSP00000376268:I163M	I	+	3	3	SEC14L1	72702368	0.000000	0.05858	0.069000	0.20011	0.821000	0.46438	-2.722000	0.00810	-2.855000	0.00329	-1.305000	0.01319	ATC	SEC14L1	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1	ENSG00000129657		0.388	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1		0	34	0	C	NM_003003		75190773	1			no_errors	ENST00000392476	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.067	G	G	75190773	C	G	75190773	3	3	141	1	0	0	0	0	1	0	0	0	14026	874	31	5	507	5	SEC14L1	17	75190773	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	15118169	75190773	6004437	185	35963											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14851601	14851601	+	Silent	SNP	C	C	T	0	0	0	1	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	taaaactggaagtagccacaCtgaaacatcaacaccaggtg	17	6	8	10	0	1	1	1	1	0	0	1	2	1	2	2	2	4	1	2	2	6	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr18:14851601C>T	ENST00000358984.4	+	36	3481	c.3301C>T	c.(3301-3303)Ctg>Ttg	p.L1101L		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1101										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGTAGCCACACTGAAACATCA	0.333																																																	0													44	36	39					18																	14851601		692	1590	2282	SO:0001819	synonymous_variant	0			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.3301C>T	18.37:g.14851601C>T			B4DGP1|F8WAG3|Q4G175	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L1101	ENST00000358984.4	37	c.3301	CCDS54182.1	18																																																																																			ANKRD30B	-	NULL	ENSG00000180777		0.333	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1		0	64	0	C	NM_001145029		14851601	1			no_errors	ENST00000358984	ensembl	human	known	74_37	silent	11.54	69	9	SNP	0.001	T	T	14851601	C	T	14851601	2	4	141	1	0	0	0	0	0	0	0	1	659	564	20	3		3	ANKRD30B	18	14851601	Silent	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09		14851601	63225647	186	35964											
SLC39A6	25800	genome.wustl.edu	37	chr18	33689576	33689576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctagaaatttatacgaaacaCgattttatgttcaaatatgg	16	14	6	5	2	1	1	1	0	0	1	1	3	1	1	0	1	2	1	0	1	8	8			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr18:33689576C>T	ENST00000590986.1	-	10	2537	c.2248G>A	c.(2248-2250)Gtg>Atg	p.V750M	SLC39A6_ENST00000269187.5_Missense_Mutation_p.V750M			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	750					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ATACGAAACACGATTTTATGT	0.353																																																	0													87	88	88					18																	33689576		1818	4087	5905	SO:0001583	missense	0			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.2248G>A	18.37:g.33689576C>T	ENSP00000465915:p.Val750Met		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	pfam_ZIP	p.V750M	ENST00000590986.1	37	c.2248	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329526	0.81690	.	.	ENSG00000141424	ENST00000269187;ENST00000543723	T	0.65364	-0.15	5.53	5.53	0.82687	.	0.368412	0.29073	N	0.013225	T	0.67258	0.2874	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.67122	-0.5750	10	0.40728	T	0.16	-14.343	17.3058	0.87194	0.0:1.0:0.0:0.0	.	750	Q13433	S39A6_HUMAN	M	750;405	ENSP00000269187:V750M	ENSP00000269187:V750M	V	-	1	0	SLC39A6	31943574	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.512000	0.53407	2.762000	0.94881	0.591000	0.81541	GTG	SLC39A6	-	NULL	ENSG00000141424		0.353	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1		0	26	0	C			33689576	-1			no_errors	ENST00000269187	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	33689576	C	T	33689576	3	4	141	1	0	0	0	0	1	0	0	0	14667	536	19	1	23	1	SLC39A6	18	33689576	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	18837975	33689576	44387672	187	35965											
SMAD4	4089	genome.wustl.edu	37	chr18	48603032	48603032	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatttgcgtcagtgtcatCgacagatgcagcagcaggcg	9	10	13	9	3	2	2	2	1	0	1	3	3	2	2	0	1	4	3	0	1	0	2	rs377767360		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr18:48603032C>T	ENST00000342988.3	+	11	1871	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R349*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R445*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	445	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R445*(7)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGTGTCATCGACAGATGCA	0.458																																																	46	Whole gene deletion(36)|Substitution - Nonsense(7)|Unknown(2)|Deletion - Frameshift(1)	pancreas(30)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|small_intestine(1)|oesophagus(1)|NS(1)	GRCh37	CM000742	SMAD4	M							43	44	44					18																	48603032		2203	4300	6503	SO:0001587	stop_gained	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1333C>T	18.37:g.48603032C>T	ENSP00000341551:p.Arg445*		A8K405	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R445*	ENST00000342988.3	37	c.1333	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	42	9.519426	0.99193	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3283	0.94273	0.0:1.0:0.0:0.0	.	.	.	.	X	445	.	ENSP00000341551:R445X	R	+	1	2	SMAD4	46857030	1.000000	0.71417	0.643000	0.29450	0.984000	0.73092	4.861000	0.62969	2.861000	0.98227	0.655000	0.94253	CGA	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.458	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3		0	72	0	C	NM_005359		48603032	1			no_errors	ENST00000342988	ensembl	human	known	74_37	nonsense	53.45	27	31	SNP	1.000	T	T	48603032	C	T	48603032	4	4	141	1	0	0	0	0	0	1	0	0	14805	876	31	1	1371	1	SMAD4	18	48603032	Nonsense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	14913456	48603032	29474216	188	35966											
CTDP1	9150	genome.wustl.edu	37	chr18	77477873	77477873	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaccgccttgttccacccGatgccggttcttcccaaggc	5	9	8	19	3	1	0	0	0	1	0	3	1	3	0	7	2	1	2	7	2	1	4	rs140627086	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr18:77477873G>A	ENST00000299543.7	+	10	2421	c.2274G>A	c.(2272-2274)ccG>ccA	p.P758P	CTDP1_ENST00000075430.7_Silent_p.P758P	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	758					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)		TGTTCCACCCGATGCCGGTTC	0.697													G|||	9	0.00179712	0	0.0029	5008	,	,		15469	0.001		0.005	False		,,,				2504	0.001																0								G	,,	9,4397	14.3+/-33.2	0,9,2194	41	48	46		1917,2274,2274	-10.1	0	18	dbSNP_134	46	39,8561	25.7+/-73.6	1,37,4262	no	coding-synonymous,coding-synonymous,coding-synonymous	CTDP1	NM_001202504.1,NM_004715.4,NM_048368.3	,,	1,46,6456	AA,AG,GG		0.4535,0.2043,0.3691	,,	639/843,758/962,758/868	77477873	48,12958	2203	4300	6503	SO:0001819	synonymous_variant	0			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.2274G>A	18.37:g.77477873G>A			A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.P758	ENST00000299543.7	37	c.2274	CCDS12017.1	18																																																																																			CTDP1	-	pfam_FCP1_C	ENSG00000060069		0.697	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1		0	66	0	G	NM_004715		77477873	1			no_errors	ENST00000299543	ensembl	human	known	74_37	silent	51.28	38	40	SNP	0.001	A	A	77477873	G	A	77477873	2	1	141	1	0	0	0	0	0	0	0	1	4011	1045	37	1		1	CTDP1	18	77477873	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	28874841	77477873	599375	189	35967											
EMR1	2015	genome.wustl.edu	37	chr19	6904062	6904062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatattgatgagtgccGccaagatccatcaacctgtg	11	10	10	10	1	1	4	1	2	0	2	2	4	2	4	4	0	3	1	4	0	3	2	rs528274667		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:6904062G>A	ENST00000312053.4	+	8	855	c.818G>A	c.(817-819)cGc>cAc	p.R273H	EMR1_ENST00000381404.4_Missense_Mutation_p.R221H|EMR1_ENST00000381407.5_Missense_Mutation_p.R132H|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.R273H	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	273	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GATGAGTGCCGCCAAGATCCA	0.473													G|||	0	0	0	0	5008	,	,		19963	0		0	False		,,,				2504	0																0													100	95	97					19																	6904062		2203	4300	6503	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.818G>A	19.37:g.6904062G>A	ENSP00000311545:p.Arg273His		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.R273H	ENST00000312053.4	37	c.818	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809819	0.31961	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	4.06	-8.13	0.01073	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.88522	0.6459	N	0.25992	0.78	0.09310	N	1	P;D;D;D	0.65815	0.884;0.984;0.989;0.995	B;P;P;P	0.57548	0.179;0.536;0.756;0.823	D	0.83852	0.0263	9	0.46703	T	0.11	.	8.6338	0.33935	0.0:0.152:0.224:0.6239	.	132;273;221;273	B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;EMR1_HUMAN	H	273;273;221;273;132	ENSP00000311545:R273H;ENSP00000370811:R221H;ENSP00000250572:R273H;ENSP00000370814:R132H	ENSP00000250572:R273H	R	+	2	0	EMR1	6855062	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.052000	0.01401	-1.890000	0.01111	-1.753000	0.00675	CGC	EMR1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000174837		0.473	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1		0	39	0	G			6904062	1			no_errors	ENST00000312053	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.000	A	A	6904062	G	A	6904062	3	1	141	1	0	0	0	0	1	0	0	0	5120	1087	38	1	848	1	EMR1	19	6904062	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09		6904062	52224921	190	35968											
MCOLN1	57192	genome.wustl.edu	37	chr19	7592758	7592758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcctgcctaggctggtcaAtgtcaccatccacttccggc	6	10	8	17	1	2	0	2	0	0	0	5	0	5	0	6	3	1	1	6	3	2	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:7592758A>G	ENST00000264079.6	+	6	814	c.689A>G	c.(688-690)aAt>aGt	p.N230S		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	230					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGGCTGGTCAATGTCACCATC	0.617																																																	0													63	66	65					19																	7592758		2203	4300	6503	SO:0001583	missense	0			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.689A>G	19.37:g.7592758A>G	ENSP00000264079:p.Asn230Ser		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.N230S	ENST00000264079.6	37	c.689	CCDS12180.1	19	.	.	.	.	.	.	.	.	.	.	A	9.051	0.992011	0.18966	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.54071	0.59	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	L	0.37630	1.12	0.80722	D	1	B;B	0.24882	0.113;0.024	B;B	0.24541	0.054;0.014	T	0.22521	-1.0214	10	0.09590	T	0.72	.	13.0738	0.59075	1.0:0.0:0.0:0.0	.	195;230	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	S	230;195	ENSP00000264079:N230S	ENSP00000264079:N230S	N	+	2	0	MCOLN1	7498758	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.823000	0.69272	1.979000	0.57680	0.482000	0.46254	AAT	MCOLN1	-	NULL	ENSG00000090674		0.617	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2		0	73	0	A	NM_020533		7592758	1			no_errors	ENST00000264079	ensembl	human	known	74_37	missense	55.13	35	43	SNP	1.000	G	G	7592758	A	G	7592758	3	3	141	1	0	0	0	0	1	0	0	0	9433	101	4	4	711	4	MCOLN1	19	7592758	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	688696	7592758	51536225	191	35969											
ZNF491	126069	genome.wustl.edu	37	chr19	11917123	11917123	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatttctcctgcaagcattCgaagatatatggtaacgcac	12	12	7	10	2	2	1	1	0	1	1	4	2	2	1	1	1	3	4	1	1	5	5	rs139779307		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:11917123C>T	ENST00000323169.5	+	3	686	c.355C>T	c.(355-357)Cga>Tga	p.R119*	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	119					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						TGCAAGCATTCGAAGATATAT	0.403																																																	0								C	stop/ARG	0,4406		0,0,2203	83	83	83		355	-1.8	0	19	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	ZNF491	NM_152356.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		119/438	11917123	2,13004	2203	4300	6503	SO:0001587	stop_gained	0			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.355C>T	19.37:g.11917123C>T	ENSP00000313443:p.Arg119*		Q3MJ35|Q8NAT8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R119*	ENST00000323169.5	37	c.355	CCDS12267.1	19	.	.	.	.	.	.	.	.	.	.	c	7.261	0.605151	0.14002	0.0	2.33E-4	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	.	.	.	0.914	-1.83	0.07833	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	1.3642	0.02197	0.2035:0.2317:0.4037:0.1611	.	.	.	.	X	119	.	ENSP00000313443:R119X	R	+	1	2	ZNF491	11778123	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-2.370000	0.01075	-0.578000	0.05959	-1.724000	0.00704	CGA	ZNF491	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177599		0.403	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF491	HGNC	protein_coding	OTTHUMT00000344518.1		0	34	0	C	NM_152356		11917123	1			no_errors	ENST00000323169	ensembl	human	known	74_37	nonsense	60.00	20	30	SNP	0.008	T	T	11917123	C	T	11917123	4	4	141	1	0	0	0	0	0	1	0	0	17990	876	31	1	357	1	ZNF491	19	11917123	Nonsense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	4324365	11917123	47211860	192	35970											
ZNF763	284390	genome.wustl.edu	37	chr19	12089019	12089019	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccagatgacaggctgaacTtccaggagaagaaagcttct	13	9	10	9	0	1	5	0	2	1	3	3	6	3	5	2	2	2	2	2	2	3	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:12089019T>G	ENST00000358987.3	+	4	407	c.280T>G	c.(280-282)Ttc>Gtc	p.F94V	ZNF763_ENST00000590798.1_Missense_Mutation_p.F114V|ZNF763_ENST00000591944.1_3'UTR|ZNF763_ENST00000545530.1_5'UTR|ZNF763_ENST00000538752.1_Missense_Mutation_p.F114V|ZNF763_ENST00000343949.5_Missense_Mutation_p.F97V|ZNF763_ENST00000592625.1_3'UTR			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	94					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						CAGGCTGAACTTCCAGGAGAA	0.393																																																	0													119	124	122					19																	12089019		2203	4300	6503	SO:0001583	missense	0			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.280T>G	19.37:g.12089019T>G	ENSP00000402017:p.Phe94Val		B3KRU3|B4DRE7	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F114V	ENST00000358987.3	37	c.340		19	.	.	.	.	.	.	.	.	.	.	t	6.462	0.453369	0.12283	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000358987	T;T;T	0.04970	3.54;3.52;3.52	0.824	0.824	0.18818	.	.	.	.	.	T	0.06554	0.0168	N	0.08118	0	0.27119	N	0.962187	D;D;P	0.57899	0.981;0.981;0.945	D;D;P	0.69142	0.962;0.954;0.765	T	0.35624	-0.9781	9	0.16896	T	0.51	.	3.7153	0.08435	0.0:0.0:0.0:1.0	.	114;94;97	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	V	114;97;94	ENSP00000438117:F114V;ENSP00000369774:F97V;ENSP00000402017:F94V	ENSP00000369774:F97V	F	+	1	0	ZNF763	11950019	0.002000	0.14202	0.045000	0.18777	0.194000	0.23727	0.310000	0.19356	0.166000	0.19597	0.164000	0.16699	TTC	ZNF763	-	NULL	ENSG00000197054		0.393	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF763	HGNC	protein_coding	OTTHUMT00000344158.1		0	40	0	T	NM_001012753		12089019	1			no_errors	ENST00000538752	ensembl	human	known	74_37	missense	51.52	32	34	SNP	0.358	G	G	12089019	T	G	12089019	3	3	141	1	0	0	0	0	1	0	0	0	18185	1609	56	4	303	4	ZNF763	19	12089019	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	171896	12089019	47039964	193	35971											
ZNF93	81931	genome.wustl.edu	37	chr19	20045515	20045515	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaaccctttcttcacataAgaaaatccattctggagaga	14	11	6	10	0	3	2	1	0	2	2	4	4	4	3	2	1	2	1	2	1	4	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:20045515A>C	ENST00000343769.5	+	4	1779	c.1751A>C	c.(1750-1752)aAg>aCg	p.K584T	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TCTTCACATAAGAAAATCCAT	0.383																																																	0													60	66	64					19																	20045515		2203	4300	6503	SO:0001583	missense	0			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1751A>C	19.37:g.20045515A>C	ENSP00000342002:p.Lys584Thr		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K584T	ENST00000343769.5	37	c.1751	CCDS32973.1	19	.	.	.	.	.	.	.	.	.	.	N	11.93	1.786091	0.31593	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.51817	0.69	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26412	0.0645	N	0.11284	0.12	0.21897	N	0.999484	P	0.52061	0.95	B	0.42361	0.385	T	0.12066	-1.0562	9	0.72032	D	0.01	.	5.4501	0.16560	1.0:0.0:0.0:0.0	.	584	P35789	ZNF93_HUMAN	T	584;556	ENSP00000342002:K584T	ENSP00000342002:K584T	K	+	2	0	ZNF93	19906515	0.000000	0.05858	0.122000	0.21767	0.121000	0.20230	-0.401000	0.07232	0.166000	0.19597	0.164000	0.16699	AAG	ZNF93	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184635		0.383	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2		0	76	0	A	NM_031218		20045515	1			no_errors	ENST00000343769	ensembl	human	known	74_37	missense	52.27	21	23	SNP	0.998	C	C	20045515	A	C	20045515	3	2	141	1	0	0	0	0	1	0	0	0	18250	72	3	4	1765	4	ZNF93	19	20045515	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	7956496	20045515	39083468	194	35972											
ZNF208	7757	genome.wustl.edu	37	chr19	22155194	22155194	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttctctccagtatgaattTtcttatgataactaagggtt	10	18	7	6	0	2	2	0	2	2	0	4	2	3	2	1	1	1	3	1	1	5	8	rs572727442	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:22155194T>A	ENST00000397126.4	-	4	2790	c.2642A>T	c.(2641-2643)aAa>aTa	p.K881I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	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)			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)				AGTATGAATTTTCTTATGATA	0.368													N|||	3	0.000599042	8e-04	0.0014	5008	,	,		21191	0		0	False		,,,				2504	0.001																0													41	44	43					19																	22155194		2041	4205	6246	SO:0001583	missense	0			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.2642A>T	19.37:g.22155194T>A	ENSP00000380315:p.Lys881Ile			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K881I	ENST00000397126.4	37	c.2642	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	7.478	0.648054	0.14516	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.24151	1.87	2.58	-5.16	0.02857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18635	0.0447	.	.	.	0.09310	N	1	B	0.29270	0.24	B	0.37550	0.253	T	0.42649	-0.9439	8	0.51188	T	0.08	.	4.1677	0.10315	0.1526:0.4064:0.0:0.441	.	781	O43345	ZN208_HUMAN	I	881;781	ENSP00000380315:K881I	ENSP00000380315:K881I	K	-	2	0	ZNF208	21947034	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.627000	0.00410	-0.954000	0.03640	-0.804000	0.03201	AAA	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1		0	27	0	T	NM_007153		22155194	-1			no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	43.48	13	10	SNP	0.000	A	A	22155194	T	A	22155194	3	1	141	1	0	0	0	0	1	0	0	0	17814	1841	64	5	1204	5	ZNF208	19	22155194	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	2109679	22155194	36973789	195	35973											
UQCRFS1	7386	genome.wustl.edu	37	chr19	29698831	29698831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacttgatttcgattttcGccagggccaacacatcagca	12	11	7	11	2	1	1	1	1	0	0	3	2	1	1	2	1	3	1	2	1	2	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:29698831G>A	ENST00000304863.4	-	2	871	c.449C>T	c.(448-450)gCg>gTg	p.A150V		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	150					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)			TTCGATTTTCGCCAGGGCCAA	0.483																																																	0													30	30	30					19																	29698831		2202	4276	6478	SO:0001583	missense	0			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.449C>T	19.37:g.29698831G>A	ENSP00000306397:p.Ala150Val		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su	p.A150V	ENST00000304863.4	37	c.449	CCDS12415.1	19	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659859	0.47572	.	.	ENSG00000169021	ENST00000304863	T	0.60040	0.22	5.42	3.28	0.37604	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (2);	0.105699	0.64402	D	0.000002	T	0.79185	0.4403	H	0.98111	4.15	0.38340	D	0.944034	D	0.56035	0.974	P	0.55391	0.775	D	0.83997	0.0341	10	0.87932	D	0	.	9.3868	0.38347	0.075:0.0:0.7807:0.1443	.	150	P47985	UCRI_HUMAN	V	150	ENSP00000306397:A150V	ENSP00000306397:A150V	A	-	2	0	UQCRFS1	34390671	1.000000	0.71417	0.997000	0.53966	0.044000	0.14063	5.359000	0.66074	0.643000	0.30638	0.462000	0.41574	GCG	UQCRFS1	-	superfamily_Rieske_2Fe-2S,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su	ENSG00000169021		0.483	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRFS1	HGNC	protein_coding	OTTHUMT00000458563.1		0	63	0	G	NM_006003		29698831	-1			no_errors	ENST00000304863	ensembl	human	known	74_37	missense	24.68	58	19	SNP	1.000	A	A	29698831	G	A	29698831	3	1	141	1	0	0	0	0	1	0	0	0	17070	1087	38	1	379	1	UQCRFS1	19	29698831	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	7543637	29698831	29430152	196	35974											
DPF1	8193	genome.wustl.edu	37	chr19	38709597	38709597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccataatggtctcctcctCcttcagctcaatcttcttct	6	16	4	15	0	6	0	2	0	4	0	10	0	9	0	4	1	1	1	4	1	2	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:38709597C>T	ENST00000420980.2	-	4	507	c.481G>A	c.(481-483)Gag>Aag	p.E161K	DPF1_ENST00000412732.1_Missense_Mutation_p.E79K|DPF1_ENST00000355526.4_Missense_Mutation_p.E161K|DPF1_ENST00000416611.1_Missense_Mutation_p.E135K|DPF1_ENST00000456296.1_Missense_Mutation_p.E135K|DPF1_ENST00000414789.1_Missense_Mutation_p.E79K	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	161					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)			GTCTCCTCCTCCTTCAGCTCA	0.647																																																	0													111	110	110					19																	38709597		2203	4300	6503	SO:0001583	missense	0			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.481G>A	19.37:g.38709597C>T	ENSP00000397354:p.Glu161Lys		B3KSY8|Q08AJ0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2	p.E161K	ENST00000420980.2	37	c.481	CCDS33008.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.93|17.93	3.509374|3.509374	0.64522|0.64522	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060;ENST00000434076;ENST00000438365|ENST00000355526	D;D;D;D;D;T|D	0.90004|0.88896	-2.31;-2.6;-2.11;-2.6;-2.57;2.38|-2.44	3.83|3.83	2.78|2.78	0.32641|0.32641	.|.	0.082473|.	0.45361|.	D|.	0.000378|.	D|D	0.90659|0.90659	0.7070|0.7070	M|M	0.71036|0.71036	2.16|2.16	0.42411|0.42411	D|D	0.992608|0.992608	D;D;D;D;D;P|.	0.71674|.	0.993;0.993;0.989;0.997;0.998;0.945|.	D;D;D;D;D;P|.	0.72982|.	0.956;0.971;0.915;0.936;0.979;0.564|.	D|D	0.88885|0.88885	0.3342|0.3342	10|6	0.52906|.	T|.	0.07|.	-8.154|-8.154	10.7688|10.7688	0.46310|0.46310	0.0:0.9023:0.0:0.0977|0.0:0.9023:0.0:0.0977	.|.	135;135;134;161;161;161|.	B4DMQ8;E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782|.	.;.;.;.;.;DPF1_HUMAN|.	K|E	161;161;79;135;79;135;79;135;79|153	ENSP00000397354:E161K;ENSP00000412098:E79K;ENSP00000390223:E135K;ENSP00000391884:E79K;ENSP00000411569:E135K;ENSP00000416347:E79K|ENSP00000347716:G153E	ENSP00000412098:E79K|.	E|G	-|-	1|2	0|0	DPF1|DPF1	43401437|43401437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.916000|3.916000	0.56416|0.56416	0.941000|0.941000	0.37499|0.37499	0.467000|0.467000	0.42956|0.42956	GAG|GGA	DPF1	-	NULL	ENSG00000011332		0.647	DPF1-001	KNOWN	basic|CCDS	protein_coding	DPF1	HGNC	protein_coding	OTTHUMT00000347721.1		0	34	0	C			38709597	-1			no_errors	ENST00000355526	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	38709597	C	T	38709597	3	4	141	1	0	0	0	0	1	0	0	0	4730	864	30	3	829	3	DPF1	19	38709597	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	9010766	38709597	20419386	197	35975											
FBXO27	126433	genome.wustl.edu	37	chr19	39516071	39516071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctaggacagacggactcgcaCgatcacactggagttggtca	11	7	12	11	3	2	1	2	0	0	1	3	5	2	4	0	4	0	2	0	4	1	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:39516071C>T	ENST00000292853.4	-	6	951	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	FBXO27_ENST00000509137.2_Missense_Mutation_p.V278M|FBXO27_ENST00000600828.1_Missense_Mutation_p.V277M	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	278	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGGACTCGCACGATCACACTG	0.592																																																	0													115	99	104					19																	39516071		2203	4300	6503	SO:0001583	missense	0			AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"F-boxes /  "other""	18753	protein-coding gene	gene with protein product		609099	"F-box only protein 27"			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.832G>A	19.37:g.39516071C>T	ENSP00000292853:p.Val278Met		Q96C87	Missense_Mutation	SNP	pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom	p.V278M	ENST00000292853.4	37	c.832	CCDS12527.1	19	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947324	0.53186	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.50277	0.75;0.75	3.65	-1.28	0.09318	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.755708	0.10820	N	0.630580	T	0.52996	0.1769	M	0.82823	2.61	0.09310	N	1	D	0.59357	0.985	P	0.49708	0.62	T	0.49093	-0.8975	10	0.87932	D	0	-10.6725	4.5451	0.12076	0.0:0.4368:0.3515:0.2117	.	278	Q8NI29	FBX27_HUMAN	M	278	ENSP00000292853:V278M;ENSP00000437662:V278M	ENSP00000292853:V278M	V	-	1	0	FBXO27	44207911	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-0.299000	0.08254	-0.096000	0.12329	0.491000	0.48974	GTG	FBXO27	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000161243		0.592	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO27	HGNC	protein_coding	OTTHUMT00000463281.1		0	71	0	C			39516071	-1			no_errors	ENST00000292853	ensembl	human	known	74_37	missense	41.46	48	34	SNP	0.000	T	T	39516071	C	T	39516071	3	4	141	1	0	0	0	0	1	0	0	0	5759	536	19	1	23	1	FBXO27	19	39516071	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	806474	39516071	19612912	198	35976											
PSG4	5672	genome.wustl.edu	37	chr19	43699178	43699178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agggtgactgggtcactgcgGatgccaccatatcggtcccg	7	8	14	12	3	1	1	1	1	0	0	3	2	2	2	3	4	2	0	3	4	1	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:43699178G>C	ENST00000405312.3	-	4	1194	c.957C>G	c.(955-957)atC>atG	p.I319M	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.I226M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	319	Ig-like C2-type 2.				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)				GGTCACTGCGGATGCCACCAT	0.488																																																	0													132	121	125					19																	43699178		2201	4293	6494	SO:0001583	missense	0				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.957C>G	19.37:g.43699178G>C	ENSP00000384770:p.Ile319Met		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I319M	ENST00000405312.3	37	c.957	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.526761	0.00959	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.12569	2.67;2.67	1.45	-2.9	0.05648	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10078	0.0247	L	0.47190	1.495	0.09310	N	1	B;B	0.14805	0.011;0.005	B;B	0.26310	0.068;0.043	T	0.37197	-0.9716	9	0.37606	T	0.19	.	0.4248	0.00461	0.3117:0.1949:0.2997:0.1937	.	226;319	E7EX79;Q00888	.;PSG4_HUMAN	M	319;226	ENSP00000384770:I319M;ENSP00000387864:I226M	ENSP00000384770:I319M	I	-	3	3	PSG4	48391018	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.525000	0.06214	-2.614000	0.00443	-2.241000	0.00287	ATC	PSG4	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000243137		0.488	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1		0	349	0	G	NM_213633		43699178	-1			no_errors	ENST00000405312	ensembl	human	known	74_37	missense	20.00	272	68	SNP	0.000	C	C	43699178	G	C	43699178	3	2	141	1	0	0	0	0	1	0	0	0	12699	1164	41	5	314	5	PSG4	19	43699178	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	4183107	43699178	15429805	199	35977			1	41		2	2	12	N	G_A	8.136852e-05
PSG4	5672	genome.wustl.edu	37	chr19	43699189	43699189	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcactgcggatgccaccatAtcggtcccgtatttcacatt	8	12	8	13	3	2	0	2	0	0	0	4	1	3	1	3	2	2	1	3	2	2	4	rs554597299		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:43699189A>C	ENST00000405312.3	-	4	1183	c.946T>G	c.(946-948)Tat>Gat	p.Y316D	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.Y223D	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	316	Ig-like C2-type 2.				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)				ATGCCACCATATCGGTCCCGT	0.488													A|||	1	0.000199681	8e-04	0	5008	,	,		21769	0		0	False		,,,				2504	0																0													148	136	140					19																	43699189		2201	4293	6494	SO:0001583	missense	0				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.946T>G	19.37:g.43699189A>C	ENSP00000384770:p.Tyr316Asp		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Y316D	ENST00000405312.3	37	c.946	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	a	1.365	-0.587787	0.03799	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.11712	2.75;2.75	1.45	-2.9	0.05648	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05777	0.0151	N	0.24115	0.695	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.21151	0.033;0.021	T	0.40496	-0.9560	9	0.35671	T	0.21	.	2.4671	0.04555	0.4928:0.3075:0.0:0.1997	.	223;316	E7EX79;Q00888	.;PSG4_HUMAN	D	316;223	ENSP00000384770:Y316D;ENSP00000387864:Y223D	ENSP00000384770:Y316D	Y	-	1	0	PSG4	48391029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.890000	0.04140	-0.614000	0.05687	-0.904000	0.02843	TAT	PSG4	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000243137		0.488	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1		0	360	0	A	NM_213633		43699189	-1			no_errors	ENST00000405312	ensembl	human	known	74_37	missense	20.56	286	74	SNP	0.000	C	C	43699189	A	C	43699189	3	2	141	1	0	0	0	0	1	0	0	0	12699	449	16	4	325	4	PSG4	19	43699189	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	11	43699189	15429794	200	35978			1	41		2	2	12	N	G_A	8.136852e-05
PRKD2	25865	genome.wustl.edu	37	chr19	47181788	47181788	+	Missense_Mutation	SNP	A	A	T	1	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	catgatcacgcccactgaccAcatgtccagcgagcggttgt	9	8	10	14	3	1	2	1	2	0	0	2	3	2	2	3	1	2	1	3	1	0	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:47181788A>T	ENST00000291281.4	-	16	2428	c.2203T>A	c.(2203-2205)Tgg>Agg	p.W735R	PRKD2_ENST00000593492.1_5'UTR|PRKD2_ENST00000595515.1_Missense_Mutation_p.W735R|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000600194.1_Missense_Mutation_p.W578R|PRKD2_ENST00000601806.1_Missense_Mutation_p.W578R|PRKD2_ENST00000433867.1_Missense_Mutation_p.W735R			Q9BZL6	KPCD2_HUMAN	protein kinase D2	735	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)		CCCACTGACCACATGTCCAGC	0.607																																																	0													170	123	139					19																	47181788		2203	4300	6503	SO:0001583	missense	0			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.2203T>A	19.37:g.47181788A>T	ENSP00000291281:p.Trp735Arg		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.W735R	ENST00000291281.4	37	c.2203	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	A	25.6	4.651915	0.88056	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.90788	-2.73;-2.73	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	0.000006	D	0.97241	0.9098	H	0.98786	4.33	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	0.98348	1.0542	10	0.87932	D	0	-24.0138	13.3949	0.60846	1.0:0.0:0.0:0.0	.	735;220;735	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	R	735	ENSP00000291281:W735R;ENSP00000393978:W735R	ENSP00000291281:W735R	W	-	1	0	PRKD2	51873628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.238000	0.95380	1.872000	0.54250	0.460000	0.39030	TGG	PRKD2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105287		0.607	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1		0	67	0	A	NM_016457		47181788	-1			no_errors	ENST00000291281	ensembl	human	known	74_37	missense	25.88	62	22	SNP	1.000	T	T	47181788	A	T	47181788	3	4	141	1	0	0	0	0	1	0	0	0	12561	159	6	5	445	5	PRKD2	19	47181788	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	3482599	47181788	11947195	201	35979											
AKT1S1	84335	genome.wustl.edu	37	chr19	50374931	50374931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggctgggggcactgagCaggtgggggggccggcgggg	4	4	25	8	2	0	2	0	2	0	0	0	2	0	2	1	10	1	3	1	10	0	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:50374931C>T	ENST00000391833.1	-	3	2489	c.500G>A	c.(499-501)tGc>tAc	p.C167Y	AKT1S1_ENST00000391834.2_Missense_Mutation_p.C167Y|AKT1S1_ENST00000391835.1_Missense_Mutation_p.C187Y|AKT1S1_ENST00000391832.3_Missense_Mutation_p.C167Y|AKT1S1_ENST00000344175.5_Missense_Mutation_p.C167Y|AKT1S1_ENST00000391831.1_Missense_Mutation_p.C167Y	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)		GGGCACTGAGCAGGTGGGGGG	0.652																																																	0													35	43	41					19																	50374931		2202	4294	6496	SO:0001583	missense	0			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.500G>A	19.37:g.50374931C>T	ENSP00000375709:p.Cys167Tyr			Missense_Mutation	SNP	NULL	p.C167Y	ENST00000391833.1	37	c.500	CCDS12784.1	19	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.043001	0.00039	.	.	ENSG00000204673	ENST00000391833;ENST00000344175;ENST00000391832;ENST00000391834;ENST00000391835;ENST00000391831	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.06;1.04	3.6	-4.18	0.03846	.	1.188910	0.05936	N	0.636156	T	0.17109	0.0411	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32745	-0.9895	10	0.02654	T	1	0.1894	7.4981	0.27500	0.0:0.568:0.1654:0.2665	.	167	Q96B36	AKTS1_HUMAN	Y	167;167;167;167;187;167	ENSP00000375709:C167Y;ENSP00000341698:C167Y;ENSP00000375708:C167Y;ENSP00000375710:C167Y;ENSP00000375711:C187Y;ENSP00000375707:C167Y	ENSP00000341698:C167Y	C	-	2	0	AKT1S1	55066743	0.013000	0.17824	0.000000	0.03702	0.010000	0.07245	-0.957000	0.03861	-1.108000	0.03000	-0.302000	0.09304	TGC	AKT1S1	-	NULL	ENSG00000204673		0.652	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1S1	HGNC	protein_coding	OTTHUMT00000317073.1		0	49	0	C	NM_032375		50374931	-1			no_errors	ENST00000344175	ensembl	human	known	74_37	missense	11.39	70	9	SNP	0.000	T	T	50374931	C	T	50374931	3	4	141	1	0	0	0	0	1	0	0	0	479	710	25	3	278	3	AKT1S1	19	50374931	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	3193143	50374931	8754052	202	35980											
ZNF600	162966	genome.wustl.edu	37	chr19	53270131	53270131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctccagtatgaattctaCgatgacgtgcaaggtttgat	10	14	9	8	2	2	3	0	3	2	0	4	4	3	3	1	1	2	3	1	1	4	4	rs375256564		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:53270131C>T	ENST00000338230.3	-	3	1145	c.878G>A	c.(877-879)cGt>cAt	p.R293H		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	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(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)		ATGAATTCTACGATGACGTGC	0.368																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0								C	HIS/ARG	0,4406		0,0,2203	80	80	80		878	-3.1	0	19		80	1,8599		0,1,4299	no	missense	ZNF600	NM_198457.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	293/723	53270131	1,13005	2203	4300	6503	SO:0001583	missense	0			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.878G>A	19.37:g.53270131C>T	ENSP00000344791:p.Arg293His		Q6MZR0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R293H	ENST00000338230.3	37	c.878	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	0.361	-0.939407	0.02322	0.0	1.16E-4	ENSG00000189190	ENST00000338230	T	0.18502	2.21	1.57	-3.14	0.05250	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	L	0.45698	1.435	0.19945	N	0.999942	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	9	0.40728	T	0.16	.	2.8049	0.05425	0.376:0.1348:0.0:0.4892	.	293	Q6ZNG1	ZN600_HUMAN	H	293	ENSP00000344791:R293H	ENSP00000344791:R293H	R	-	2	0	ZNF600	57961943	0.000000	0.05858	0.005000	0.12908	0.107000	0.19398	-2.989000	0.00658	-1.908000	0.01086	-0.856000	0.03024	CGT	ZNF600	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189190		0.368	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	HGNC	protein_coding	OTTHUMT00000463093.1		0	73	0	C	NM_198457		53270131	-1			no_errors	ENST00000338230	ensembl	human	known	74_37	missense	32.43	75	36	SNP	0.981	T	T	53270131	C	T	53270131	3	4	141	1	0	0	0	0	1	0	0	0	18078	536	19	1	1294	1	ZNF600	19	53270131	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	2895200	53270131	5858852	203	35981											
ZNF347	84671	genome.wustl.edu	37	chr19	53644629	53644629	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacactcattacacttataAggtttctctccagtatgaat	12	14	4	11	0	2	1	1	1	1	0	4	1	3	1	2	1	1	2	2	1	5	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:53644629A>C	ENST00000334197.7	-	5	1520	c.1452T>G	c.(1450-1452)ccT>ccG	p.P484P	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.P485P|ZNF347_ENST00000452676.2_Silent_p.P485P	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	484					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)		TACACTTATAAGGTTTCTCTC	0.413																																					Melanoma(64;205 1597 17324 45721)												0													144	143	143					19																	53644629		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1452T>G	19.37:g.53644629A>C			B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P485	ENST00000334197.7	37	c.1455	CCDS33097.1	19																																																																																			ZNF347	-	pfscan_Znf_C2H2	ENSG00000197937		0.413	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1		0	68	0	A	NM_032584		53644629	-1			no_errors	ENST00000452676	ensembl	human	known	74_37	silent	26.21	76	27	SNP	0.027	C	C	53644629	A	C	53644629	2	2	141	1	0	0	0	0	0	0	0	1	17909	59	3	4		4	ZNF347	19	53644629	Silent	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	374498	53644629	5484354	204	35982											
ZNF677	342926	genome.wustl.edu	37	chr19	53741076	53741076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctagtgaggttcgaacactGgttaaaggctttgccacact	10	11	10	10	1	0	1	0	1	0	0	1	2	0	1	2	3	2	3	2	3	4	4			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:53741076G>T	ENST00000598513.1	-	5	1054	c.904C>A	c.(904-906)Cag>Aag	p.Q302K	ZNF677_ENST00000333952.4_Missense_Mutation_p.Q302K|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	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)|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)		TTCGAACACTGGTTAAAGGCT	0.408																																																	0													120	110	113					19																	53741076		2203	4300	6503	SO:0001583	missense	0			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.904C>A	19.37:g.53741076G>T	ENSP00000469391:p.Gln302Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q302K	ENST00000598513.1	37	c.904	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823135	0.32237	.	.	ENSG00000197928	ENST00000333952	T	0.35421	1.31	2.2	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.631969	0.12359	N	0.475872	T	0.22666	0.0547	N	0.25245	0.725	0.09310	N	1	B	0.31256	0.316	B	0.29942	0.109	T	0.16778	-1.0391	10	0.49607	T	0.09	.	8.0868	0.30777	0.0:0.0:0.7578:0.2422	.	302	Q86XU0	ZN677_HUMAN	K	302	ENSP00000334394:Q302K	ENSP00000334394:Q302K	Q	-	1	0	ZNF677	58432888	0.000000	0.05858	0.001000	0.08648	0.848000	0.48234	-1.561000	0.02158	0.478000	0.27488	0.650000	0.86243	CAG	ZNF677	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197928		0.408	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1		0	47	0	G	NM_182609		53741076	-1			no_errors	ENST00000333952	ensembl	human	known	74_37	missense	28.26	33	13	SNP	0.000	T	T	53741076	G	T	53741076	3	4	141	1	0	0	0	0	1	0	0	0	18132	1357	47	3	854	3	ZNF677	19	53741076	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	96447	53741076	5387907	205	35983											
PRKCG	5582	genome.wustl.edu	37	chr19	54401237	54401237	+	Missense_Mutation	SNP	T	T	A	0	1	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	tgcggatgggcccctcttccTctcccatcccctccccttcc	2	11	6	22	1	2	0	0	0	2	0	7	1	6	1	9	2	1	0	9	2	0	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:54401237T>A	ENST00000263431.3	+	10	1246	c.964T>A	c.(964-966)Tct>Act	p.S322T	PRKCG_ENST00000542049.1_Missense_Mutation_p.S209T|PRKCG_ENST00000540413.1_Missense_Mutation_p.S322T|PRKCG_ENST00000536044.1_Silent_p.P292P	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	322					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)	cccctcttcctctcccatccc	0.587																																																	0													88	89	89					19																	54401237		2203	4300	6503	SO:0001583	missense	0			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.964T>A	19.37:g.54401237T>A	ENSP00000263431:p.Ser322Thr		B7Z8Q0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.S322T	ENST00000263431.3	37	c.964	CCDS12867.1	19	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854163	0.32791	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.70516	-0.49;-0.49;-0.48	4.39	4.39	0.52855	.	.	.	.	.	T	0.68302	0.2986	L	0.29908	0.895	0.29182	N	0.876462	B;B;B	0.26041	0.14;0.004;0.133	P;B;B	0.45449	0.481;0.022;0.09	T	0.63580	-0.6605	9	0.22109	T	0.4	.	10.161	0.42851	0.0:0.0:0.0:1.0	.	209;322;322	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	T	322;322;209	ENSP00000443493:S322T;ENSP00000263431:S322T;ENSP00000438090:S209T	ENSP00000263431:S322T	S	+	1	0	PRKCG	59093049	0.001000	0.12720	0.959000	0.39883	0.967000	0.64934	0.641000	0.24720	1.975000	0.57531	0.397000	0.26171	TCT	PRKCG	-	pirsf_Protein_kinase_C_a/b/g	ENSG00000126583		0.587	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	HGNC	protein_coding	OTTHUMT00000139233.3		0	71	0	T	NM_002739		54401237	1			no_errors	ENST00000540413	ensembl	human	known	74_37	missense	6.93	92	7	SNP	1.000	A	A	54401237	T	A	54401237	3	1	141	1	0	0	0	0	1	0	0	0	12554	1551	54	5	1002	5	PRKCG	19	54401237	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	660161	54401237	4727746	206	35984											
LENG9	94059	genome.wustl.edu	37	chr19	54973785	54973785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacttctgcttgtagcccagGctcggtcaccatgagggcca	7	9	11	14	1	2	1	1	1	1	0	3	1	2	1	3	3	2	3	3	3	1	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:54973785G>A	ENST00000333834.4	-	1	1109	c.991C>T	c.(991-993)Cct>Tct	p.P331S		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	331							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		TGTAGCCCAGGCTCGGTCACC	0.627																																																	0													55	50	52					19																	54973785		2203	4300	6503	SO:0001583	missense	0			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.991C>T	19.37:g.54973785G>A	ENSP00000331647:p.Pro331Ser		B2VAM3	Missense_Mutation	SNP	superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH	p.P331S	ENST00000333834.4	37	c.991	CCDS12895.2	19	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455236	0.26161	.	.	ENSG00000182909	ENST00000333834	T	0.64803	-0.12	3.98	-1.09	0.09904	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.412413	0.23840	N	0.044057	T	0.48114	0.1482	L	0.59436	1.845	0.09310	N	1	B	0.14438	0.01	B	0.17979	0.02	T	0.29305	-1.0016	10	0.32370	T	0.25	-4.4015	3.3568	0.07172	0.0948:0.3143:0.4295:0.1615	.	331	Q96B70	LENG9_HUMAN	S	331	ENSP00000331647:P331S	ENSP00000331647:P331S	P	-	1	0	LENG9	59665597	0.028000	0.19301	0.000000	0.03702	0.002000	0.02628	0.562000	0.23531	-0.140000	0.11394	-1.175000	0.01729	CCT	LENG9	-	superfamily_RNA_ligase/cNuc_Pdiesterase	ENSG00000182909		0.627	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG9	HGNC	protein_coding	OTTHUMT00000140806.3		0	45	0	G	NM_198988		54973785	-1			no_errors	ENST00000333834	ensembl	human	known	74_37	missense	16.67	50	10	SNP	0.000	A	A	54973785	G	A	54973785	3	1	141	1	0	0	0	0	1	0	0	0	8753	1203	42	3	518	3	LENG9	19	54973785	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	572548	54973785	4155198	207	35985											
C20orf132	140699	genome.wustl.edu	37	chr20	35752070	35752070	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtacaggccacttgggatgtCgacatcagacatggtgaggc	10	8	14	9	1	1	2	1	1	0	1	2	4	1	3	1	4	1	1	1	4	1	2	rs35287749	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr20:35752070C>G	ENST00000400441.3	-	15	1917	c.1918G>C	c.(1918-1920)Gac>Cac	p.D640H	MROH8_ENST00000217333.8_Missense_Mutation_p.D469H|MROH8_ENST00000441008.2_Missense_Mutation_p.D626H			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	49																	CTTGGGATGTCGACATCAGAC	0.483																																																	0													132	132	132					20																	35752070		2075	4198	6273	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1918G>C	20.37:g.35752070C>G	ENSP00000383291:p.Asp640His		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D640H	ENST00000400441.3	37	c.1918		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.556|6.556	0.470868|0.470868	0.12461|0.12461	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458	T;T;T|.	0.03607|.	4.11;4.39;3.87|.	5.4|5.4	-1.47|-1.47	0.08772|0.08772	.|.	1.019820|.	0.07820|.	N|.	0.959558|.	T|T	0.14787|0.14787	0.0357|0.0357	N|N	0.08118|0.08118	0|0	0.19575|0.19575	N|N	0.999967|0.999967	B;P|.	0.51653|.	0.34;0.947|.	B;P|.	0.48982|.	0.113;0.597|.	T|T	0.28427|0.28427	-1.0044|-1.0044	10|5	0.45353|.	T|.	0.12|.	-9.2644|-9.2644	4.7649|4.7649	0.13127|0.13127	0.1396:0.4487:0.0:0.4118|0.1396:0.4487:0.0:0.4118	.|.	640;474|.	E7ETR9;Q9H579-2|.	.;.|.	H|P	626;640;469|267	ENSP00000392144:D626H;ENSP00000383291:D640H;ENSP00000217333:D469H|.	ENSP00000217333:D469H|.	D|R	-|-	1|2	0|0	C20orf132|C20orf132	35185484|35185484	0.098000|0.098000	0.21812|0.21812	0.633000|0.633000	0.29310|0.29310	0.073000|0.073000	0.16967|0.16967	-0.506000|-0.506000	0.06359|0.06359	-0.229000|-0.229000	0.09854|0.09854	0.491000|0.491000	0.48974|0.48974	GAC|CGA	MROH8	-	superfamily_ARM-type_fold	ENSG00000101353		0.483	MROH8-202	KNOWN	basic|appris_principal	protein_coding	MROH8	HGNC	protein_coding			0	37	0	C	NM_152503		35752070	-1			no_errors	ENST00000400441	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.545	G	G	35752070	C	G	35752070	3	3	141	1	0	0	0	0	1	0	0	0	2093	884	31	5	1250	5	C20orf132	20	35752070	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09		35752070	27273450	208	35986											
ZSWIM3	140831	genome.wustl.edu	37	chr20	44505670	44505670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctagataaggtacaagtgtCctcaaagccagagcaggaag	15	6	11	9	0	1	2	1	0	0	2	2	3	2	3	3	2	3	2	3	2	6	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr20:44505670C>T	ENST00000255152.2	+	2	682	c.473C>T	c.(472-474)tCc>tTc	p.S158F	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.S152F	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	158							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GTACAAGTGTCCTCAAAGCCA	0.498																																																	0													138	111	120					20																	44505670		2203	4300	6503	SO:0001583	missense	0			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.473C>T	20.37:g.44505670C>T	ENSP00000255152:p.Ser158Phe		Q9BR13	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.S158F	ENST00000255152.2	37	c.473	CCDS13381.1	20	.	.	.	.	.	.	.	.	.	.	C	3.203	-0.163271	0.06502	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.24538	1.89;1.85	5.49	3.39	0.38822	.	0.497073	0.20654	N	0.088155	T	0.09992	0.0245	N	0.08118	0	0.09310	N	1	B;B	0.25521	0.128;0.054	B;B	0.21546	0.035;0.015	T	0.30794	-0.9966	10	0.09843	T	0.71	-14.4085	6.374	0.21497	0.1809:0.6954:0.0:0.1237	.	152;158	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	F	158;152	ENSP00000255152:S158F;ENSP00000406313:S152F	ENSP00000255152:S158F	S	+	2	0	ZSWIM3	43939077	0.003000	0.15002	0.278000	0.24718	0.188000	0.23474	0.628000	0.24522	1.510000	0.48803	0.655000	0.94253	TCC	ZSWIM3	-	NULL	ENSG00000132801		0.498	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1		0	20	0	C	NM_080752		44505670	1			no_errors	ENST00000255152	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.011	T	T	44505670	C	T	44505670	3	4	141	1	0	0	0	0	1	0	0	0	18290	855	30	3	479	3	ZSWIM3	20	44505670	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	8753600	44505670	18519850	209	35987											
LSM14B	149986	genome.wustl.edu	37	chr20	60705584	60705584	+	Splice_Site	SNP	A	A	G	1	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	gggctgtcctttgtcctcacAggaaacaggcgaacaaggaa	12	7	12	10	1	1	0	1	0	0	0	3	3	3	2	2	4	2	1	2	4	4	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr20:60705584A>G	ENST00000279068.6	+	6	833		c.e6-1		LSM14B_ENST00000253001.4_Splice_Site	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)						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)			TTGTCCTCACAGGAAACAGGC	0.498																																																	0													57	56	56					20																	60705584		1985	4146	6131	SO:0001630	splice_region_variant	0			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.674-1A>G	20.37:g.60705584A>G			Q6PFW8|Q96LH8	Splice_Site	SNP	-	e6-2	ENST00000279068.6	37	c.674-2	CCDS46626.1	20	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649533	0.67358	.	.	ENSG00000149657	ENST00000279068;ENST00000253001;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4482	0.75248	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LSM14B	60138979	1.000000	0.71417	0.966000	0.40874	0.907000	0.53573	5.335000	0.65929	2.125000	0.65367	0.454000	0.30748	.	LSM14B	-	-	ENSG00000149657		0.498	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM14B	HGNC	protein_coding	OTTHUMT00000079996.4		0	36	0	A	NM_144703	Intron	60705584	1			no_errors	ENST00000253001	ensembl	human	known	74_37	splice_site	10.87	41	5	SNP	0.995	G	G	60705584	A	G	60705584	5	3	141	1	0	0	0	0	0	0	1	0	9090	202	7	4	694	4	LSM14B	20	60705584	Splice_Site	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	16199914	60705584	2319936	210	35988											
CYTSA	23384	genome.wustl.edu	37	chr22	24718716	24718716	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tggagaatgaaaagcagaaaGtggcagagctgtattctatc	15	9	12	5	0	1	4	0	1	1	3	2	5	1	4	0	2	2	4	0	2	6	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr22:24718716G>A	ENST00000314328.9	+	5	2053	c.1768G>A	c.(1768-1770)Gtg>Atg	p.V590M	SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.V590M|SPECC1L_ENST00000541492.1_Missense_Mutation_p.V590M|SPECC1L_ENST00000437398.1_Missense_Mutation_p.V590M|SPECC1L_ENST00000416735.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	590					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						AAAGCAGAAAGTGGCAGAGCT	0.483																																																	0													74	77	76					22																	24718716		2203	4300	6503	SO:0001583	missense	0			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.1768G>A	22.37:g.24718716G>A	ENSP00000325785:p.Val590Met		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain	p.V590M	ENST00000314328.9	37	c.1768	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801117	0.70567	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.63744	-0.06;2.42;-0.06;2.96	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	L	0.39633	1.23	0.80722	D	1	D;D	0.65815	0.995;0.991	D;P	0.65773	0.938;0.881	T	0.69224	-0.5201	10	0.39692	T	0.17	-29.069	18.8439	0.92196	0.0:0.0:1.0:0.0	.	590;590	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	M	618;590;590;590;590	ENSP00000393363:V590M;ENSP00000405671:V590M;ENSP00000325785:V590M;ENSP00000439633:V590M	ENSP00000325785:V590M	V	+	1	0	SPECC1L	23048716	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.362000	0.73077	2.707000	0.92482	0.655000	0.94253	GTG	SPECC1L	-	NULL	ENSG00000100014		0.483	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2		0	14	0	G	NM_015330		24718716	1			no_errors	ENST00000314328	ensembl	human	known	74_37	missense	46.15	7	6	SNP	1.000	A	A	24718716	G	A	24718716	3	1	141	1	0	0	0	0	1	0	0	0	4218	1029	36	3	1778	3	CYTSA	22	24718716	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09		24718716	26585850	211	35989											
C22orf30	253143	genome.wustl.edu	37	chr22	32108594	32108594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctaaggcaagccttgccGgagcacagtgctcaggaaaa	12	6	11	12	1	1	0	1	0	0	0	2	2	2	2	3	3	4	3	3	3	4	2	rs138862865		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr22:32108594G>A	ENST00000327423.6	-	4	5420	c.5231C>T	c.(5230-5232)cCg>cTg	p.P1744L	PRR14L_ENST00000397493.2_Missense_Mutation_p.P1744L|PRR14L_ENST00000434485.1_Missense_Mutation_p.P1744L	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1744										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AAGCCTTGCCGGAGCACAGTG	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		20694	0		0	False		,,,				2504	0																0													17	19	19					22																	32108594		692	1591	2283	SO:0001583	missense	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5231C>T	22.37:g.32108594G>A	ENSP00000331845:p.Pro1744Leu		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.P1744L	ENST00000327423.6	37	c.5231	CCDS13900.2	22	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	19.14	3.769712	0.69992	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.11169	2.81;2.85;2.8	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000015	T	0.22244	0.0536	M	0.61703	1.905	0.48975	D	0.999732	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.00145	-1.1993	10	0.66056	D	0.02	-10.7701	12.6721	0.56872	0.0:0.0:0.8246:0.1754	.	1744;1744;1744	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	L	1744	ENSP00000380630:P1744L;ENSP00000331845:P1744L;ENSP00000388314:P1744L	ENSP00000331845:P1744L	P	-	2	0	PRR14L	30438594	0.990000	0.36364	0.847000	0.33407	0.997000	0.91878	2.627000	0.46469	2.738000	0.93877	0.655000	0.94253	CCG	PRR14L	-	NULL	ENSG00000183530		0.522	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2		0	19	0	G	NM_173566		32108594	-1			no_errors	ENST00000397493	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.927	A	A	32108594	G	A	32108594	3	1	141	1	0	0	0	0	1	0	0	0	2149	1116	39	1	1248	1	C22orf30	22	32108594	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	7389878	32108594	19195972	212	35990											
CARD10	29775	genome.wustl.edu	37	chr22	37906323	37906323	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctggctccttctccttctCcttctccttctccttctcct	0	19	3	19	0	6	0	0	0	6	0	12	0	7	0	6	1	0	1	6	1	0	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr22:37906323C>A	ENST00000403299.1	-	5	1021	c.805G>T	c.(805-807)Gag>Tag	p.E269*	CARD10_ENST00000251973.5_Nonsense_Mutation_p.E269*|CARD10_ENST00000406271.3_5'Flank|CARD10_ENST00000494166.1_5'UTR			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	269					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)					ttctccttctccttctccttc	0.617																																																	0													31	33	32					22																	37906323		2203	4300	6503	SO:0001587	stop_gained	0			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.805G>T	22.37:g.37906323C>A	ENSP00000384570:p.Glu269*		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.E269*	ENST00000403299.1	37	c.805	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141772	0.77775	.	.	ENSG00000100065	ENST00000403299;ENST00000251973	.	.	.	1.35	1.35	0.21983	.	0.780550	0.09557	U	0.786081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-15.3583	6.0989	0.20035	0.0:1.0:0.0:0.0	.	.	.	.	X	269	.	ENSP00000251973:E269X	E	-	1	0	CARD10	36236269	1.000000	0.71417	0.997000	0.53966	0.633000	0.38033	0.931000	0.28871	1.097000	0.41459	0.313000	0.20887	GAG	CARD10	-	NULL	ENSG00000100065		0.617	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1		0	14	0	C	NM_014550		37906323	-1			no_errors	ENST00000251973	ensembl	human	known	74_37	nonsense	26.67	11	4	SNP	0.999	A	A	37906323	C	A	37906323	4	1	141	1	0	0	0	0	0	1	0	0	2651	864	30	3	2361	3	CARD10	22	37906323	Nonsense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	5797729	37906323	13398243	213	35991											
PARVB	29780	genome.wustl.edu	37	chr22	44514957	44514957	+	Missense_Mutation	SNP	A	A	G	1	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	atgacgtgctggtggaggagAggatcattgtgaagcagctg	10	9	17	5	1	1	3	1	2	0	1	1	6	1	5	0	4	3	3	0	4	1	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr22:44514957A>G	ENST00000338758.7	+	4	376	c.313A>G	c.(313-315)Agg>Ggg	p.R105G	PARVB_ENST00000404989.1_Missense_Mutation_p.R68G|PARVB_ENST00000406477.3_Missense_Mutation_p.R138G	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	105	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGTGGAGGAGAGGATCATTGT	0.587																																																	0													203	169	180					22																	44514957		2203	4300	6503	SO:0001583	missense	0			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.313A>G	22.37:g.44514957A>G	ENSP00000342492:p.Arg105Gly		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R138G	ENST00000338758.7	37	c.412	CCDS14056.1	22	.	.	.	.	.	.	.	.	.	.	A	16.19	3.053535	0.55218	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000402876;ENST00000444029;ENST00000404989	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	4.92	-3.15	0.05233	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.75889	0.3911	M	0.86740	2.835	0.53688	D	0.99997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.996;0.999;0.997	T	0.77718	-0.2483	10	0.87932	D	0	.	16.0854	0.81042	0.2869:0.7131:0.0:0.0	.	105;68;105;138	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	G	138;105;105;103;68	ENSP00000384515:R138G;ENSP00000342492:R105G;ENSP00000385331:R105G;ENSP00000393758:R103G;ENSP00000384353:R68G	ENSP00000342492:R105G	R	+	1	2	PARVB	42846290	0.973000	0.33851	0.214000	0.23707	0.683000	0.39861	1.727000	0.38095	-1.093000	0.03058	-0.313000	0.08912	AGG	PARVB	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000188677		0.587	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	HGNC	protein_coding	OTTHUMT00000319518.2		0	25	0	A	NM_001003828		44514957	1			no_errors	ENST00000406477	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.325	G	G	44514957	A	G	44514957	3	3	141	1	0	0	0	0	1	0	0	0	11508	295	11	4	546	4	PARVB	22	44514957	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	6608634	44514957	6789609	214	35992											
CERK	64781	genome.wustl.edu	37	chr22	47097574	47097574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtttctgcgtcgctggtgCccacggtggagtaacacacg	7	9	14	11	4	1	0	0	0	1	0	2	1	1	1	1	4	3	3	1	4	1	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr22:47097574C>T	ENST00000216264.8	-	7	861	c.749G>A	c.(748-750)gGc>gAc	p.G250D	CERK_ENST00000541677.1_Missense_Mutation_p.G52D	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	250	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCGCTGGTGCCCACGGTGGA	0.582																																																	0													70	57	61					22																	47097574		2186	4265	6451	SO:0001583	missense	0			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.749G>A	22.37:g.47097574C>T	ENSP00000216264:p.Gly250Asp		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.G250D	ENST00000216264.8	37	c.749	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287193	0.59867	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.23348	1.91;1.91	4.49	4.49	0.54785	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.89785	3.06	0.80722	D	1	D	0.61080	0.989	D	0.63192	0.912	T	0.65557	-0.6139	10	0.56958	D	0.05	-16.0164	15.012	0.71557	0.0:1.0:0.0:0.0	.	250	Q8TCT0	CERK1_HUMAN	D	250;52	ENSP00000216264:G250D;ENSP00000438659:G52D	ENSP00000216264:G250D	G	-	2	0	CERK	45476238	1.000000	0.71417	0.284000	0.24805	0.016000	0.09150	6.227000	0.72282	2.197000	0.70478	0.591000	0.81541	GGC	CERK	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000100422		0.582	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2		0	21	0	C	NM_022766		47097574	-1			no_errors	ENST00000216264	ensembl	human	known	74_37	missense	16.67	14	3	SNP	1.000	T	T	47097574	C	T	47097574	3	4	141	1	0	0	0	0	1	0	0	0	3274	739	26	3	892	3	CERK	22	47097574	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	2582617	47097574	4206992	215	35993											
NYX	60506	genome.wustl.edu	37	chrX	41332760	41332760	+	Silent	SNP	G	G	T	0	0	1	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	gcagcggtggtcctcggcctGcccagcgcctgggccgtggg	2	6	18	15	4	0	0	0	0	0	0	2	0	1	0	5	5	3	1	5	5	0	0			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:41332760G>T	ENST00000342595.2	+	2	510	c.54G>T	c.(52-54)ctG>ctT	p.L18L	NYX_ENST00000378220.1_Silent_p.L18L|NYX_ENST00000486842.1_3'UTR	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	18					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						TCCTCGGCCTGCCCAGCGCCT	0.716																																																	0													1	1	1					X																	41332760		724	1550	2274	SO:0001819	synonymous_variant	0			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.54G>T	X.37:g.41332760G>T			D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L18	ENST00000342595.2	37	c.54	CCDS14256.1	X																																																																																			NYX	-	NULL	ENSG00000188937		0.716	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYX	HGNC	protein_coding	OTTHUMT00000056256.1		0	20	0	G	NM_022567		41332760	1			no_errors	ENST00000342595	ensembl	human	known	74_37	silent	55.56	12	15	SNP	0.990	T	T	41332760	G	T	41332760	2	4	141	1	0	0	0	0	0	0	0	1	10836	1306	46	3		3	NYX	23	41332760	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09		41332760	113937800	216	35994											
MAOA	4128	genome.wustl.edu	37	chrX	43591035	43591035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaccagttaattcagcGgcttccaatgggagctgtca	12	9	11	9	1	2	1	2	0	0	1	3	3	3	2	2	2	3	3	2	2	3	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:43591035G>A	ENST00000338702.3	+	8	1013	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	MAOA_ENST00000542639.1_Missense_Mutation_p.R164Q	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	297					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)	TTAATTCAGCGGCTTCCAATG	0.423																																																	0													98	84	88					X																	43591035		2203	4300	6503	SO:0001583	missense	0				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.890G>A	X.37:g.43591035G>A	ENSP00000340684:p.Arg297Gln		B4DF46|Q16426	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase	p.R297Q	ENST00000338702.3	37	c.890	CCDS14260.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.496103	0.96355	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	D;D	0.93307	-3.2;-3.2	5.62	5.62	0.85841	Amine oxidase (1);	0.048394	0.85682	D	0.000000	D	0.96787	0.8951	M	0.84156	2.68	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.96966	0.9705	10	0.59425	D	0.04	.	18.7135	0.91667	0.0:0.0:1.0:0.0	.	297	P21397	AOFA_HUMAN	Q	297;164	ENSP00000340684:R297Q;ENSP00000440846:R164Q	ENSP00000340684:R297Q	R	+	2	0	MAOA	43475979	1.000000	0.71417	0.997000	0.53966	0.877000	0.50540	9.337000	0.96545	2.365000	0.80145	0.538000	0.68166	CGG	MAOA	-	pfam_Amino_oxidase	ENSG00000189221		0.423	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOA	HGNC	protein_coding	OTTHUMT00000056300.1		0	28	0	G	NM_000240		43591035	1			no_errors	ENST00000338702	ensembl	human	known	74_37	missense	31.82	30	14	SNP	1.000	A	A	43591035	G	A	43591035	3	1	141	1	0	0	0	0	1	0	0	0	9263	1116	39	1	920	1	MAOA	23	43591035	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	2258275	43591035	111679525	217	35995											
AR	367	genome.wustl.edu	37	chrX	66765188	66765188	+	Missense_Mutation	SNP	A	A	T																															gcagcagcagcagcagcagcAgcagcagcagcagcagcagc																										TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:66765188A>T	ENST00000374690.3	+	1	724	c.200A>T	c.(199-201)cAg>cTg	p.Q67L	AR_ENST00000396044.3_Missense_Mutation_p.Q67L|AR_ENST00000504326.1_Missense_Mutation_p.Q67L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	67	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)	cagcagcagcagcagcagcag	0.672									Androgen Insensitivity Syndrome																																								0													4	8	7					X																	66765188		1328	2795	4123	SO:0001583	missense	0	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.200A>T	X.37:g.66765188A>T	ENSP00000363822:p.Gln67Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.Q67L	ENST00000374690.3	37	c.200	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	a	12.39	1.924161	0.34002	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.59224	0.28;0.28;0.28	1.43	1.43	0.22495	.	1.958740	0.03276	U	0.185421	T	0.60483	0.2272	N	0.19112	0.55	0.19945	N	0.999946	P;P;P	0.49559	0.807;0.925;0.807	D;D;P	0.65140	0.932;0.932;0.728	T	0.51325	-0.8720	10	0.72032	D	0.01	.	4.8652	0.13604	1.0:0.0:0.0:0.0	.	67;67;65	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	67	ENSP00000363822:Q67L;ENSP00000421155:Q67L;ENSP00000379359:Q67L	ENSP00000363822:Q67L	Q	+	2	0	AR	66681913	0.407000	0.25352	0.994000	0.49952	0.753000	0.42808	0.127000	0.15790	0.644000	0.30656	0.084000	0.15446	CAG	AR	-	pfam_Andrgn_rcpt	ENSG00000169083		0.672	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1		0	17	0	A	NM_000044		66765188	1			no_errors	ENST00000374690	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.999	T	T	66765188	A	T	66765188	3	4	141	1	0	0	0	0	1	0	0	0	836	188	7	5	202	5	AR	23	66765188	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	23174153	66765188	88505372	218	35996	130	2									
AR	367	genome.wustl.edu	37	chrX	66765191	66765191	+	Missense_Mutation	SNP	A	A	T																															gcagcagcagcagcagcagcAgcagcagcagcagcagcagc																										TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:66765191A>T	ENST00000374690.3	+	1	727	c.203A>T	c.(202-204)cAg>cTg	p.Q68L	AR_ENST00000396044.3_Missense_Mutation_p.Q68L|AR_ENST00000504326.1_Missense_Mutation_p.Q68L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	68	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)	cagcagcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																																								0																																										SO:0001583	missense	0	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.203A>T	X.37:g.66765191A>T	ENSP00000363822:p.Gln68Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.Q68L	ENST00000374690.3	37	c.203	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	a	16.44	3.123738	0.56613	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.76060	-0.99;-0.99;-0.99	4.65	4.65	0.58169	.	0.643517	0.12034	N	0.505704	T	0.74764	0.3759	N	0.19112	0.55	0.21256	N	0.999748	P;P;P	0.49559	0.807;0.925;0.807	D;D;P	0.65140	0.932;0.932;0.728	T	0.63265	-0.6676	10	0.45353	T	0.12	.	9.4675	0.38822	1.0:0.0:0.0:0.0	.	68;68;66	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	68	ENSP00000363822:Q68L;ENSP00000421155:Q68L;ENSP00000379359:Q68L	ENSP00000363822:Q68L	Q	+	2	0	AR	66681916	0.901000	0.30685	1.000000	0.80357	0.788000	0.44548	0.492000	0.22435	1.757000	0.51966	0.381000	0.24937	CAG	AR	-	pfam_Andrgn_rcpt	ENSG00000169083		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1		0	17	0	A	NM_000044		66765191	1			no_errors	ENST00000374690	ensembl	human	known	74_37	missense	25.93	19	7	SNP	1.000	T	T	66765191	A	T	66765191	3	4	141	1	0	0	0	0	1	0	0	0	836	188	7	5	205	5	AR	23	66765191	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	3	66765191	88505369	219	35997	130	2									
RGAG4	340526	genome.wustl.edu	37	chrX	71350747	71350747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggaagcgcgggaagttgGcatgcaaggggcttccttcc	8	7	15	11	2	0	0	0	0	0	0	2	2	2	2	3	5	2	4	3	5	3	3			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:71350747G>A	ENST00000545866.1	-	1	1011	c.644C>T	c.(643-645)gCc>gTc	p.A215V	NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.A215V	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	215										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CGGGAAGTTGGCATGCAAGGG	0.607																																																	0													48	50	49					X																	71350747		1910	4101	6011	SO:0001583	missense	0			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.644C>T	X.37:g.71350747G>A	ENSP00000441366:p.Ala215Val		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom	p.A215V	ENST00000545866.1	37	c.644	CCDS55446.1	X	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071304	0.55646	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12039	2.72;2.72	4.23	3.37	0.38596	Retrotransposon gag protein (1);	.	.	.	.	T	0.07683	0.0193	N	0.08118	0	0.25596	N	0.986645	P	0.43750	0.816	B	0.43225	0.412	T	0.21827	-1.0234	8	.	.	.	-5.4361	7.2218	0.25992	0.121:0.0:0.879:0.0	.	215	Q5HYW3	RGAG4_HUMAN	V	215	ENSP00000441366:A215V;ENSP00000418667:A215V	.	A	-	2	0	RGAG4	71267472	0.998000	0.40836	0.885000	0.34714	0.973000	0.67179	2.303000	0.43646	1.142000	0.42291	-0.260000	0.10688	GCC	RGAG4	-	pfam_Retrotrans_gag_dom	ENSG00000242732		0.607	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1		0	38	0	G	NM_001024455		71350747	-1			no_errors	ENST00000479991	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.859	A	A	71350747	G	A	71350747	3	1	141	1	0	0	0	0	1	0	0	0	13320	1203	42	3	1069	3	RGAG4	23	71350747	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	4585556	71350747	83919813	220	35998											
TBX22	50945	genome.wustl.edu	37	chrX	79279597	79279597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttcgggtcaaggtgaaagGgttggatccagggaagcagt	10	9	17	5	1	1	1	1	1	0	0	3	3	2	3	1	5	1	3	1	5	3	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:79279597G>T	ENST00000373294.5	+	3	420	c.392G>T	c.(391-393)gGg>gTg	p.G131V	TBX22_ENST00000442340.1_Missense_Mutation_p.G11V|TBX22_ENST00000373296.3_Missense_Mutation_p.G131V|TBX22_ENST00000373291.1_Missense_Mutation_p.G11V	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	131					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAGGTGAAAGGGTTGGATCCA	0.493																																																	0													171	134	146					X																	79279597		2203	4300	6503	SO:0001583	missense	0			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.392G>T	X.37:g.79279597G>T	ENSP00000362390:p.Gly131Val		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.G131V	ENST00000373294.5	37	c.392	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345180	0.61073	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	4.71	4.71	0.59529	p53-like transcription factor, DNA-binding (1);	0.128939	0.53938	D	0.000057	D	0.98664	0.9552	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99809	1.1040	10	0.87932	D	0	.	15.3729	0.74581	0.0:0.0:1.0:0.0	.	131	Q9Y458	TBX22_HUMAN	V	131;11;131;11	ENSP00000362393:G131V;ENSP00000396394:G11V;ENSP00000362390:G131V;ENSP00000362388:G11V	ENSP00000362388:G11V	G	+	2	0	TBX22	79166253	1.000000	0.71417	0.969000	0.41365	0.816000	0.46133	3.846000	0.55888	1.922000	0.55676	0.594000	0.82650	GGG	TBX22	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000122145		0.493	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1		0	41	0	G	NM_016954		79279597	1			no_errors	ENST00000373294	ensembl	human	known	74_37	missense	52.73	26	29	SNP	0.998	T	T	79279597	G	T	79279597	3	4	141	1	0	0	0	0	1	0	0	0	15705	1232	43	3	402	3	TBX22	23	79279597	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	7928850	79279597	75990963	221	35999											
CPXCR1	53336	genome.wustl.edu	37	chrX	88009209	88009209	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatatccataccatgaatgTtatgatcacaaacaccaata	18	11	3	9	0	1	2	1	2	0	0	2	2	2	2	3	0	2	1	3	0	8	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:88009209T>G	ENST00000276127.4	+	3	1053	c.794T>G	c.(793-795)gTt>gGt	p.V265G	CPXCR1_ENST00000373111.1_Missense_Mutation_p.V265G	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	265							metal ion binding (GO:0046872)	p.V265A(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ACCATGAATGTTATGATCACA	0.328																																																	1	Substitution - Missense(1)	lung(1)											43	40	41					X																	88009209		2201	4295	6496	SO:0001583	missense	0			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.794T>G	X.37:g.88009209T>G	ENSP00000276127:p.Val265Gly		B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.V265G	ENST00000276127.4	37	c.794	CCDS14458.1	X	.	.	.	.	.	.	.	.	.	.	T	8.546	0.874445	0.17395	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.30981	1.51;1.51	3.57	-0.307	0.12777	.	1.310120	0.05681	N	0.590454	T	0.17238	0.0414	N	0.24115	0.695	0.09310	N	1	P	0.42518	0.782	B	0.34652	0.187	T	0.18777	-1.0326	9	.	.	.	-0.6274	5.8653	0.18771	0.0:0.3932:0.0:0.6068	.	265	Q8N123	CPXCR_HUMAN	G	265	ENSP00000276127:V265G;ENSP00000362203:V265G	.	V	+	2	0	CPXCR1	87895865	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.167000	0.16602	-0.151000	0.11176	0.481000	0.45027	GTT	CPXCR1	-	NULL	ENSG00000147183		0.328	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXCR1	HGNC	protein_coding	OTTHUMT00000057418.1		0	58	0	T	NM_033048		88009209	1			no_errors	ENST00000276127	ensembl	human	known	74_37	missense	63.89	26	46	SNP	0.000	G	G	88009209	T	G	88009209	3	3	141	1	0	0	0	0	1	0	0	0	3843	1725	60	4	796	4	CPXCR1	23	88009209	Missense_Mutation	SNP	T	TCGA-R6-A6KZ-01A-11D-A31U-09	8729612	88009209	67261351	222	36000											
DIAPH2	1730	genome.wustl.edu	37	chrX	96192269	96192269	+	Missense_Mutation	SNP	A	A	T	1	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	gaatgatgagcttgatattcAgttgaaagtatttgatgaaa	15	14	10	2	0	1	6	1	6	0	0	1	7	1	6	0	0	1	3	0	0	5	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:96192269A>T	ENST00000324765.8	+	11	1474	c.1127A>T	c.(1126-1128)cAg>cTg	p.Q376L	DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q376L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q376L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q372L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q376L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	376	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTTGATATTCAGTTGAAAGTA	0.308																																																	0													62	52	55					X																	96192269		2202	4300	6502	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1127A>T	X.37:g.96192269A>T	ENSP00000321348:p.Gln376Leu		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.Q376L	ENST00000324765.8	37	c.1127	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	A	15.28	2.786047	0.49997	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0	4.48	4.48	0.54585	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.082227	0.49916	D	0.000135	D	0.93396	0.7894	M	0.92026	3.265	0.49213	D	0.999768	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.987;0.996	D	0.94578	0.7777	10	0.87932	D	0	.	13.2691	0.60152	1.0:0.0:0.0:0.0	.	376;376;383	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	L	376;372;376;376;376;383	ENSP00000362152:Q376L;ENSP00000362145:Q372L;ENSP00000348082:Q376L;ENSP00000362140:Q376L;ENSP00000321348:Q376L	ENSP00000321348:Q376L	Q	+	2	0	DIAPH2	96078925	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	8.560000	0.90712	1.572000	0.49736	0.235000	0.17854	CAG	DIAPH2	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000147202		0.308	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2		0	39	0	A	NM_006729, NM_007309		96192269	1			no_errors	ENST00000324765	ensembl	human	known	74_37	missense	43.24	21	16	SNP	1.000	T	T	96192269	A	T	96192269	3	4	141	1	0	0	0	0	1	0	0	0	4533	188	7	5	1169	5	DIAPH2	23	96192269	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	8183060	96192269	59078291	223	36001											
PCDH19	57526	genome.wustl.edu	37	chrX	99551696	99551696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaaagtccgtttggtggggCcgcagtcgtcataagcctcg	7	9	14	11	5	1	0	1	0	0	0	4	1	2	0	3	3	1	2	3	3	2	2			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:99551696C>A	ENST00000373034.4	-	6	4701	c.3026G>T	c.(3025-3027)gGc>gTc	p.G1009V	PCDH19_ENST00000420881.2_Missense_Mutation_p.G961V|PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000255531.7_Missense_Mutation_p.G962V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1009					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						TTTGGTGGGGCCGCAGTCGTC	0.567																																																	0													79	79	79					X																	99551696		2123	4217	6340	SO:0001583	missense	0			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.3026G>T	X.37:g.99551696C>A	ENSP00000362125:p.Gly1009Val		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1009V	ENST00000373034.4	37	c.3026	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026923	0.35797	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.54279	0.59;0.58;0.59	5.73	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	L	0.38175	1.15	0.80722	D	1	B;D;D	0.62365	0.335;0.991;0.984	B;P;P	0.54026	0.058;0.74;0.554	T	0.57353	-0.7826	10	0.48119	T	0.1	.	15.833	0.78773	0.0:0.8676:0.1324:0.0	.	1009;962;961	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	V	961;1009;962	ENSP00000400327:G961V;ENSP00000362125:G1009V;ENSP00000255531:G962V	ENSP00000255531:G962V	G	-	2	0	PCDH19	99438352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.757000	0.47557	1.164000	0.42652	0.600000	0.82982	GGC	PCDH19	-	NULL	ENSG00000165194		0.567	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2		0	18	0	C	NM_020766		99551696	-1			no_errors	ENST00000373034	ensembl	human	known	74_37	missense	50.00	12	12	SNP	1.000	A	A	99551696	C	A	99551696	3	1	141	1	0	0	0	0	1	0	0	0	11553	739	26	3	424	3	PCDH19	23	99551696	Missense_Mutation	SNP	C	TCGA-R6-A6KZ-01A-11D-A31U-09	3359427	99551696	55718864	224	36002											
GUCY2F	2986	genome.wustl.edu	37	chrX	108638591	108638591	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttaaatatttcatcaaaAgttggtcgttgttctgcagc	10	16	9	6	1	3	0	2	0	1	0	4	0	3	0	0	2	2	5	0	2	5	6			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:108638591A>C	ENST00000218006.2	-	12	2694	c.2403T>G	c.(2401-2403)acT>acG	p.T801T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	801	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTTCATCAAAAGTTGGTCGTT	0.498																																																	0													165	134	145					X																	108638591		2203	4300	6503	SO:0001819	synonymous_variant	0			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2403T>G	X.37:g.108638591A>C			Q9UJF1	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.T801	ENST00000218006.2	37	c.2403	CCDS14545.1	X																																																																																			GUCY2F	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000101890		0.498	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1		0	16	0	A	NM_001522		108638591	-1			no_errors	ENST00000218006	ensembl	human	known	74_37	silent	75.00	2	9	SNP	0.975	C	C	108638591	A	C	108638591	2	2	141	1	0	0	0	0	0	0	0	1	6925	59	3	4		4	GUCY2F	23	108638591	Silent	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	9086895	108638591	46631969	225	36003											
ZCCHC12	170261	genome.wustl.edu	37	chrX	117959408	117959408	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaaaactggctgacccaAgtcaatggcgtcctgccaga	11	9	10	11	1	1	3	1	2	0	1	2	3	2	3	3	2	2	1	3	2	4	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:117959408A>G	ENST00000310164.2	+	4	708	c.201A>G	c.(199-201)caA>caG	p.Q67Q		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	67					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ggctgacccaagtcaatggcg	0.542																																																	0													69	69	69					X																	117959408		2203	4300	6503	SO:0001819	synonymous_variant	0			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.201A>G	X.37:g.117959408A>G			B3KV48|Q6PID5|Q8N1C1	Silent	SNP	superfamily_Znf_CCHC	p.Q67	ENST00000310164.2	37	c.201	CCDS14574.1	X																																																																																			ZCCHC12	-	NULL	ENSG00000174460		0.542	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC12	HGNC	protein_coding	OTTHUMT00000058014.1		0	14	0	A	NM_173798		117959408	1			no_errors	ENST00000310164	ensembl	human	known	74_37	silent	85.71	2	12	SNP	0.999	G	G	117959408	A	G	117959408	2	3	141	1	0	0	0	0	0	0	0	1	17629	69	3	4		4	ZCCHC12	23	117959408	Silent	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	9320817	117959408	37311152	226	36004											
ATP1B4	23439	genome.wustl.edu	37	chrX	119509235	119509235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgctttaggttataatGacagtcttcaagaggaaatg	14	12	9	6	0	2	2	1	1	1	1	2	3	2	3	0	2	1	2	0	2	5	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:119509235G>T	ENST00000218008.3	+	5	628	c.571G>T	c.(571-573)Gac>Tac	p.D191Y	ATP1B4_ENST00000361319.3_Missense_Mutation_p.D187Y|ATP1B4_ENST00000539306.1_Missense_Mutation_p.D148Y	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	191					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGGTTATAATGACAGTCTTCA	0.483																																																	0													103	95	98					X																	119509235		2203	4300	6503	SO:0001583	missense	0			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.571G>T	X.37:g.119509235G>T	ENSP00000218008:p.Asp191Tyr		Q17RR0|Q9UN41	Missense_Mutation	SNP	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	p.D191Y	ENST00000218008.3	37	c.571	CCDS48158.1	X	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391025	0.82902	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.32515	1.45;1.45;1.45	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.89534	3.04	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.996;0.99;0.996;0.994	T	0.72437	-0.4294	10	0.66056	D	0.02	-12.5937	17.4253	0.87525	0.0:0.0:1.0:0.0	.	148;156;191;187	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	Y	191;187;148	ENSP00000218008:D191Y;ENSP00000355346:D187Y;ENSP00000443334:D148Y	ENSP00000218008:D191Y	D	+	1	0	ATP1B4	119393263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.147000	0.94646	2.328000	0.79073	0.513000	0.50165	GAC	ATP1B4	-	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	ENSG00000101892		0.483	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1B4	HGNC	protein_coding	OTTHUMT00000058095.1		0	24	0	G	NM_001142447		119509235	1			no_errors	ENST00000218008	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	T	T	119509235	G	T	119509235	3	4	141	1	0	0	0	0	1	0	0	0	1136	1290	45	3	589	3	ATP1B4	23	119509235	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	1549827	119509235	35761325	227	36005											
CUL4B	8450	genome.wustl.edu	37	chrX	119672585	119672585	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccgactaacaggcgcttGgctaaatctttcttatagaa	11	14	7	9	2	2	1	0	0	2	1	3	2	3	1	1	2	1	2	1	2	6	7			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:119672585G>T	ENST00000404115.3	-	15	2237	c.1836C>A	c.(1834-1836)gcC>gcA	p.A612A	CUL4B_ENST00000371322.5_Silent_p.A594A|CUL4B_ENST00000336592.6_Silent_p.A599A	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	612					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACAGGCGCTTGGCTAAATCTT	0.348																																																	0													97	96	96					X																	119672585		2203	4300	6503	SO:0001819	synonymous_variant	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1836C>A	X.37:g.119672585G>T			B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.A612	ENST00000404115.3	37	c.1836	CCDS35379.1	X																																																																																			CUL4B	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000158290		0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1		0	49	0	G	NM_003588		119672585	-1			no_errors	ENST00000404115	ensembl	human	known	74_37	silent	9.09	39	4	SNP	0.997	T	T	119672585	G	T	119672585	2	4	141	1	0	0	0	0	0	0	0	1	4067	1335	47	3		3	CUL4B	23	119672585	Silent	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	163350	119672585	35597975	228	36006											
PASD1	139135	genome.wustl.edu	37	chrX	150840247	150840247	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagccttgtgttgccttcaAccaggtatggaaaggctgtt	8	12	13	8	0	1	0	1	0	0	0	1	2	1	2	3	4	3	4	3	4	3	5			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:150840247A>C	ENST00000370357.4	+	13	1678	c.1433A>C	c.(1432-1434)aAc>aCc	p.N478T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	478						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)					GTTGCCTTCAACCAGGTATGG	0.453																																																	0													79	73	75					X																	150840247		2203	4300	6503	SO:0001583	missense	0			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.1433A>C	X.37:g.150840247A>C	ENSP00000359382:p.Asn478Thr		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	superfamily_PAS,smart_PAS,pfscan_PAS	p.N478T	ENST00000370357.4	37	c.1433	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	A	4.395	0.072919	0.08436	.	.	ENSG00000166049	ENST00000370357	T	0.16897	2.31	3.45	-6.91	0.01649	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.33803	-0.9854	9	0.56958	D	0.05	-6.1647	0.2864	0.00252	0.3631:0.1438:0.2186:0.2746	.	478	Q8IV76	PASD1_HUMAN	T	478	ENSP00000359382:N478T	ENSP00000359382:N478T	N	+	2	0	PASD1	150590903	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.675000	0.01947	-2.217000	0.00731	-1.848000	0.00571	AAC	PASD1	-	NULL	ENSG00000166049		0.453	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2		0	17	0	A	NM_173493		150840247	1			no_errors	ENST00000370357	ensembl	human	known	74_37	missense	50.00	17	17	SNP	0.000	C	C	150840247	A	C	150840247	3	2	141	1	0	0	0	0	1	0	0	0	11510	43	2	4	1479	4	PASD1	23	150840247	Missense_Mutation	SNP	A	TCGA-R6-A6KZ-01A-11D-A31U-09	31167662	150840247	4430313	229	36007											
RPL10	6134	genome.wustl.edu	37	chrX	153627911	153627911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggccacatggtgtcagatGaatatgagcagctgtcctct	9	11	12	9	0	2	3	1	2	1	1	3	3	3	3	2	2	2	2	2	2	2	1			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:153627911G>A	ENST00000369817.2	+	5	742	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	RPL10_ENST00000424325.2_Missense_Mutation_p.E56K|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_Missense_Mutation_p.E5K			P27635	RL10_HUMAN	ribosomal protein L10	56					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTGTCAGATGAATATGAGCA	0.507																																																	0													112	110	111					X																	153627911		2203	4300	6503	SO:0001583	missense	0			AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"L ribosomal proteins"	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.166G>A	X.37:g.153627911G>A	ENSP00000358832:p.Glu56Lys		A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	p.E56K	ENST00000369817.2	37	c.166	CCDS14746.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.435565	0.96150	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000458500;ENST00000406022;ENST00000451365	T;T;T;T	0.79940	-0.98;-0.98;-0.98;-1.32	4.77	4.77	0.60923	Ribosomal protein L10e/L16 (2);	0.150767	0.42420	U	0.000704	D	0.92616	0.7654	H	0.96720	3.87	0.80722	D	1	P;D	0.65815	0.912;0.995	P;D	0.69654	0.876;0.965	D	0.94917	0.8070	10	0.87932	D	0	-16.8236	14.3504	0.66697	0.0:0.0:1.0:0.0	.	56;56	A6QRI9;P27635	.;RL10_HUMAN	K	56;56;56;56;56;5;39	ENSP00000358832:E56K;ENSP00000413436:E56K;ENSP00000341730:E56K;ENSP00000385621:E5K	ENSP00000341730:E56K	E	+	1	0	RPL10	153281105	1.000000	0.71417	0.996000	0.52242	0.891000	0.51852	8.919000	0.92770	1.963000	0.57068	0.600000	0.82982	GAA	RPL10	-	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	ENSG00000147403		0.507	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10	HGNC	protein_coding	OTTHUMT00000127774.5		0	28	0	G	NM_006013		153627911	1			no_errors	ENST00000344746	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	A	A	153627911	G	A	153627911	3	1	141	1	0	0	0	0	1	0	0	0	13599	1291	45	3	176	3	RPL10	23	153627911	Missense_Mutation	SNP	G	TCGA-R6-A6KZ-01A-11D-A31U-09	2787664	153627911	1642649	230	36008											
CDK11B	8510	genome.wustl.edu	37	chr1	1572272	1572272	+	IGR	SNP	A	A	G	1	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	gactcaccttggcaccaagcAgcagctctggggcgcggtac	8	6	13	14	2	2	0	1	0	1	0	2	1	2	0	2	4	4	5	2	4	2	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:1572272A>G	ENST00000356026.5	+	0	1326				CDK11B_ENST00000341832.6_Missense_Mutation_p.L552P|CDK11B_ENST00000340677.5_Missense_Mutation_p.L586P|CDK11B_ENST00000407249.3_Missense_Mutation_p.L599P|CDK11B_ENST00000317673.7_Missense_Mutation_p.L597P			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	GGCACCAAGCAGCAGCTCTGG	0.677																																																	0													32	42	39					1																	1572272		2093	4200	6293	SO:0001628	intergenic_variant	0				CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7171	protein-coding gene	gene with protein product	"matrix metalloproteinase 22", "femalysin", "matrix metalloproteinase in the female reproductive tract"	603321	"matrix metalloproteinase 23B"	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572272A>G			A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L599P	ENST00000356026.5	37	c.1796	CCDS30559.1	1																																																																																			CDK11B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000248333		0.677	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK11B	HGNC	protein_coding	OTTHUMT00000158492.2		0	93	0	A	NM_006983		1572272	-1			no_errors	ENST00000407249	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	G	G	1572272	A	G	1572272	1	3	142	0	1	0	0	0	0	0	0	0	3134	188	7	4		4	CDK11B	1	1572272	IGR	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09		1572272	247678349	1	36009											
AJAP1	55966	genome.wustl.edu	37	chr1	4832549	4832549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgatgagacgctgcactcgaCgacgggggagtacaaatcca	12	5	13	11	5	0	1	0	1	0	1	2	6	1	2	1	2	2	3	1	2	2	1	rs149958982	byFrequency	TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:4832549C>T	ENST00000378191.4	+	4	1508	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	AJAP1_ENST00000378190.3_Missense_Mutation_p.T376M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	376	Targeting signals.				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)		CTGCACTCGACGACGGGGGAG	0.582													C|||	3	0.000599042	8e-04	0.0029	5008	,	,		17821	0		0	False		,,,				2504	0																0								C	MET/THR,MET/THR	13,4393	20.2+/-43.8	0,13,2190	54	51	52		1127,1127	5.1	0.1	1	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	AJAP1	NM_001042478.1,NM_018836.3	81,81	0,15,6488	TT,TC,CC		0.0233,0.2951,0.1153	probably-damaging,probably-damaging	376/412,376/412	4832549	15,12991	2203	4300	6503	SO:0001583	missense	0			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.1127C>T	1.37:g.4832549C>T	ENSP00000367433:p.Thr376Met		Q9Y229	Missense_Mutation	SNP	NULL	p.T376M	ENST00000378191.4	37	c.1127	CCDS54.1	1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	15.86	2.957209	0.53293	0.002951	2.33E-4	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.56275	0.47;0.47	5.12	5.12	0.69794	.	0.393883	0.29198	N	0.012856	T	0.49338	0.1551	N	0.08118	0	0.30467	N	0.773702	D	0.64830	0.994	P	0.62014	0.897	T	0.55939	-0.8061	10	0.87932	D	0	.	12.255	0.54619	0.1701:0.8299:0.0:0.0	.	376	Q9UKB5	AJAP1_HUMAN	M	376	ENSP00000367432:T376M;ENSP00000367433:T376M	ENSP00000367432:T376M	T	+	2	0	AJAP1	4732409	0.999000	0.42202	0.121000	0.21740	0.661000	0.39034	5.799000	0.69101	2.380000	0.81148	0.561000	0.74099	ACG	AJAP1	-	NULL	ENSG00000196581		0.582	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3		0	30	0	C	NM_018836		4832549	1			no_errors	ENST00000378190	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.876	T	T	4832549	C	T	4832549	3	4	142	1	0	0	0	0	1	0	0	0	438	536	19	1	1141	1	AJAP1	1	4832549	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	3260277	4832549	244418072	2	36010											
SPSB1	80176	genome.wustl.edu	37	chr1	9427595	9427595	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggagatccacacgctgccGctgccggcttccctcaaggc	6	6	13	16	3	1	1	1	0	0	1	3	2	3	1	4	4	2	3	4	4	1	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:9427595G>A	ENST00000328089.6	+	3	1124	c.783G>A	c.(781-783)ccG>ccA	p.P261P	SPSB1_ENST00000357898.3_Silent_p.P261P|SPSB1_ENST00000377399.2_Silent_p.P261P	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	261	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		ACACGCTGCCGCTGCCGGCTT	0.687																																																	0													28	30	29					1																	9427595		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.783G>A	1.37:g.9427595G>A			A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Silent	SNP	pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.P261	ENST00000328089.6	37	c.783	CCDS102.1	1																																																																																			SPSB1	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C	ENSG00000171621		0.687	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB1	HGNC	protein_coding	OTTHUMT00000003727.2		0	70	0	G	NM_025106		9427595	1			no_errors	ENST00000328089	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.986	A	A	9427595	G	A	9427595	2	1	142	1	0	0	0	0	0	0	0	1	15159	1074	38	1		1	SPSB1	1	9427595	Silent	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	4595046	9427595	239823026	3	36011											
PRAMEF22	653606	genome.wustl.edu	37	chr1	13036521	13036521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagcattctaaatttcaGaaacatattggaaacagtat	18	12	6	5	0	2	2	1	1	1	1	2	3	2	3	0	1	3	2	0	1	7	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:13036521G>T	ENST00000376187.1	+	2	593	c.593G>T	c.(592-594)aGa>aTa	p.R198I	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	198					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CTAAATTTCAGAAACATATTG	0.433																																																	0													1	1	1					1																	13036521		681	1612	2293	SO:0001583	missense	0					1p36.21	2013-01-17			ENSG00000204508			"-"	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.593G>T	1.37:g.13036521G>T	ENSP00000365358:p.Arg198Ile		A6NMM3	Missense_Mutation	SNP	NULL	p.R198I	ENST00000376187.1	37	c.593	CCDS41256.1	1	.	.	.	.	.	.	.	.	.	.	.	5.002	0.186155	0.09495	.	.	ENSG00000204508	ENST00000376187	T	0.16743	2.32	1.18	-1.04	0.10068	.	1.949630	0.02320	N	0.072922	T	0.21347	0.0514	L	0.28458	0.855	0.09310	N	1	D	0.65815	0.995	D	0.63793	0.918	T	0.42932	-0.9422	10	0.07175	T	0.84	.	4.4896	0.11806	0.0:0.0:0.5055:0.4945	.	198	A3QJZ6	PRA22_HUMAN	I	198	ENSP00000365358:R198I	ENSP00000365358:R198I	R	+	2	0	PRAMEF22	12959108	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.581000	0.05820	-0.214000	0.10078	0.194000	0.17425	AGA	PRAMEF22	-	NULL	ENSG00000204508		0.433	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	PRAMEF22	HGNC	protein_coding	OTTHUMT00000158511.1		0	143	0	G	NM_001100631		13036521	1			no_errors	ENST00000376187	ensembl	human	known	74_37	missense	12.39	99	14	SNP	0.000	T	T	13036521	G	T	13036521	3	4	142	1	0	0	0	0	1	0	0	0	12478	942	33	3	599	3	PRAMEF22	1	13036521	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	3608926	13036521	236214100	4	36012											
PTPRU	10076	genome.wustl.edu	37	chr1	29611333	29611333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctgtgcaggggggcttgCtgtcctcatccttctcctgg	3	13	12	13	0	3	0	1	0	2	0	6	0	5	0	3	4	2	3	3	4	0	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:29611333C>T	ENST00000345512.3	+	14	2399	c.2270C>T	c.(2269-2271)gCt>gTt	p.A757V	PTPRU_ENST00000428026.2_Missense_Mutation_p.A757V|PTPRU_ENST00000356870.3_Missense_Mutation_p.A757V|PTPRU_ENST00000460170.2_Missense_Mutation_p.A757V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.A757V|PTPRU_ENST00000323874.8_Missense_Mutation_p.A757V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	757					canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGGGGGCTTGCTGTCCTCATC	0.612																																																	0													98	85	90					1																	29611333		2203	4300	6503	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2270C>T	1.37:g.29611333C>T	ENSP00000334941:p.Ala757Val		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.A757V	ENST00000345512.3	37	c.2270	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	6.933	0.541806	0.13250	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.28454	1.62;1.67;1.67;1.67;1.61;1.67	5.21	4.19	0.49359	.	0.071468	0.56097	D	0.000028	T	0.07728	0.0194	N	0.00841	-1.15	0.30957	N	0.724073	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.001;0.001	T	0.20505	-1.0273	9	.	.	.	.	4.4683	0.11700	0.0:0.7741:0.0:0.2259	.	757;757;757;757;757	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	757	ENSP00000334941:A757V;ENSP00000362884:A757V;ENSP00000349333:A757V;ENSP00000314987:A757V;ENSP00000392332:A757V;ENSP00000432906:A757V	.	A	+	2	0	PTPRU	29483920	0.996000	0.38824	0.997000	0.53966	0.997000	0.91878	2.871000	0.48459	2.422000	0.82143	0.542000	0.68232	GCT	PTPRU	-	NULL	ENSG00000060656		0.612	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1		0	68	0	C			29611333	1			no_errors	ENST00000345512	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.991	T	T	29611333	C	T	29611333	3	4	142	1	0	0	0	0	1	0	0	0	12858	797	28	3	2324	3	PTPRU	1	29611333	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	16574812	29611333	219639288	5	36013											
KANK4	163782	genome.wustl.edu	37	chr1	62740610	62740611	+	Missense_Mutation	DNP	GA	GA	TG																															cttggcccttctgtggatagGaattcttttgatagtgtttc																										TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:62740610_62740611GA>TG	ENST00000371153.4	-	3	543_544	c.165_166TC>CA	c.(163-168)atTCct>atCAct	p.P56T	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	56						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						CTGTGGATAGGAATTCTTTTGA	0.535																																																	0																																										SO:0001583	missense	0			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.165_166delinsTG	1.37:g.62740610_62740611delinsTG	ENSP00000360195:p.Pro56Thr		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation|Silent	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P56T|p.I55	ENST00000371153.4	37	c.166|c.165	CCDS620.1	1																																																																																			KANK4	-	pfam_KN_motif	ENSG00000132854		0.535	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1		0	54	0	G|A	NM_181712		62740610|62740611	-1			no_errors	ENST00000371153	ensembl	human	known	74_37	missense|silent	40.00|38.10	12|13	8	SNP	0.964|0.972	T|G	TG	62740611	GA	TG	62740610	3	4	142	1	0	0	0	0	1	0	0	0	8006	1174	41	3	2853	3	KANK4	1	62740610	Missense_Mutation	DNP	GA	TCGA-R6-A6L4-01A-11D-A31U-09	33129277	62740610	186510011	6	36014											
LRRIQ3	127255	genome.wustl.edu	37	chr1	74575235	74575235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttttgtggaaaaacacaGggctgaatataaggggaggg	13	11	14	3	0	0	1	0	1	0	0	0	3	0	3	0	5	1	1	0	5	5	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:74575235G>A	ENST00000395089.1	-	4	709	c.710C>T	c.(709-711)cCt>cTt	p.P237L	LRRIQ3_ENST00000370909.2_Missense_Mutation_p.P129L|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.P237L|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	237	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAAAAACACAGGGCTGAATAT	0.318																																																	0													104	88	93					1																	74575235		1786	4051	5837	SO:0001583	missense	0			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.710C>T	1.37:g.74575235G>A	ENSP00000378524:p.Pro237Leu		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.P237L	ENST00000395089.1	37	c.710	CCDS41350.1	1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.019897	0.19355	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972	T;T;T	0.30448	3.06;3.06;1.53	3.83	-2.15	0.07102	.	40.222200	0.00357	N	0.000021	T	0.10252	0.0251	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19192	-1.0313	10	0.25106	T	0.35	.	7.1473	0.25591	0.0991:0.0:0.2253:0.6756	.	237	A6PVS8	LRIQ3_HUMAN	L	237;237;129;237	ENSP00000378524:P237L;ENSP00000346414:P237L;ENSP00000359946:P129L	ENSP00000346414:P237L	P	-	2	0	LRRIQ3	74347823	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	-0.532000	0.06164	-0.404000	0.07610	0.585000	0.79938	CCT	LRRIQ3	-	pfscan_IQ_motif_EF-hand-BS	ENSG00000162620		0.318	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1		0	103	0	G	NM_145258		74575235	-1			no_errors	ENST00000354431	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.000	A	A	74575235	G	A	74575235	3	1	142	1	0	0	0	0	1	0	0	0	9065	1000	35	3	1180	3	LRRIQ3	1	74575235	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	11834625	74575235	174675386	7	36015											
CLCA2	9635	genome.wustl.edu	37	chr1	86919122	86919122	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcgaaagtggggctttagCcgagtcagctcaggaggctc	9	7	16	9	2	2	0	2	0	0	0	3	4	2	1	1	4	3	3	1	4	2	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:86919122C>T	ENST00000370565.4	+	13	2388	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	742					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGGGCTTTAGCCGAGTCAGCT	0.463																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													75	78	77					1																	86919122		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2226C>T	1.37:g.86919122C>T			A8K2T3|Q9Y6N2	Silent	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.S742	ENST00000370565.4	37	c.2226	CCDS708.1	1																																																																																			CLCA2	-	tigrfam_CaCC_prot	ENSG00000137975		0.463	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1		0	67	0	C	NM_006536		86919122	1			no_errors	ENST00000370565	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.973	T	T	86919122	C	T	86919122	2	4	142	1	0	0	0	0	0	0	0	1	3465	738	26	3		3	CLCA2	1	86919122	Silent	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	12343887	86919122	162331499	8	36016											
ALG14	199857	genome.wustl.edu	37	chr1	95538354	95538354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatactgagagactccCggggcgtaacgtccatggaa	12	6	12	11	3	0	3	0	1	0	2	2	5	2	4	3	3	2	1	3	3	4	2	rs566569103		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:95538354C>T	ENST00000370205.5	-	1	147	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	34					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		GAGAGACTCCCGGGGCGTAAC	0.572																																																	0													127	115	119					1																	95538354		2203	4300	6503	SO:0001583	missense	0				CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"asparagine-linked glycosylation 14 homolog (yeast)", "asparagine-linked glycosylation 14 homolog (S. cerevisiae)"			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.101G>A	1.37:g.95538354C>T	ENSP00000359224:p.Arg34Gln		A8K030	Missense_Mutation	SNP	pfam_Oligosacch_biosynth_Alg14	p.R34Q	ENST00000370205.5	37	c.101	CCDS752.1	1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980201	0.53827	.	.	ENSG00000172339	ENST00000370205	T	0.45668	0.89	4.99	3.03	0.35002	.	0.132033	0.48286	D	0.000197	T	0.07728	0.0194	N	0.08118	0	0.09310	N	1	P	0.52577	0.954	B	0.40285	0.325	T	0.16041	-1.0416	10	0.13470	T	0.59	-16.913	8.3316	0.32189	0.0:0.7485:0.161:0.0905	.	34	Q96F25	ALG14_HUMAN	Q	34	ENSP00000359224:R34Q	ENSP00000359224:R34Q	R	-	2	0	ALG14	95310942	0.072000	0.21174	0.296000	0.24974	0.263000	0.26337	1.720000	0.38022	2.591000	0.87537	0.591000	0.81541	CGG	ALG14	-	NULL	ENSG00000172339		0.572	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG14	HGNC	protein_coding	OTTHUMT00000029699.2		0	106	0	C	NM_144988		95538354	-1			no_errors	ENST00000370205	ensembl	human	known	74_37	missense	36.54	33	19	SNP	0.005	T	T	95538354	C	T	95538354	3	4	142	1	0	0	0	0	1	0	0	0	516	652	23	1	565	1	ALG14	1	95538354	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	8619232	95538354	153712267	9	36017											
CSDE1	7812	genome.wustl.edu	37	chr1	115275390	115275390	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtctccaaagggaagttcTttagggatcacaaagtcaac	13	11	9	8	0	4	0	2	0	2	0	5	2	4	2	1	2	1	1	1	2	5	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:115275390T>C	ENST00000358528.4	-	10	1311	c.885A>G	c.(883-885)aaA>aaG	p.K295K	CSDE1_ENST00000534699.1_Silent_p.K295K|CSDE1_ENST00000438362.2_Silent_p.K341K|CSDE1_ENST00000530886.1_Silent_p.K165K|CSDE1_ENST00000339438.6_Silent_p.K264K|CSDE1_ENST00000369530.1_Silent_p.K310K|CSDE1_ENST00000261443.5_Silent_p.K264K	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	295					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)		AGGGAAGTTCTTTAGGGATCA	0.423																																																	0													148	146	147					1																	115275390		2203	4300	6503	SO:0001819	synonymous_variant	0				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.885A>G	1.37:g.115275390T>C			A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot	p.K310	ENST00000358528.4	37	c.930	CCDS30812.1	1																																																																																			CSDE1	-	NULL	ENSG00000009307		0.423	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1		0	45	0	T	NM_007158		115275390	-1			no_errors	ENST00000369530	ensembl	human	known	74_37	silent	25.00	30	10	SNP	1.000	C	C	115275390	T	C	115275390	2	2	142	1	0	0	0	0	0	0	0	1	3938	1606	56	4		4	CSDE1	1	115275390	Silent	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	19737036	115275390	133975231	10	36018											
KCNN3	3782	genome.wustl.edu	37	chr1	154705591	154705591	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccacatggcacccagaaagTtactagttacgtcctgctgg	10	9	10	12	1	0	1	0	0	0	1	1	1	1	1	3	2	3	4	3	2	4	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:154705591T>G	ENST00000271915.4	-	4	1793	c.1478A>C	c.(1477-1479)aAc>aCc	p.N493T	KCNN3_ENST00000361147.4_Missense_Mutation_p.N188T|KCNN3_ENST00000358505.2_Missense_Mutation_p.N180T	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	498					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)	ACCCAGAAAGTTACTAGTTAC	0.517																																																	0													180	143	156					1																	154705591		2203	4300	6503	SO:0001583	missense	0			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.1478A>C	1.37:g.154705591T>G	ENSP00000271915:p.Asn493Thr		B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.N493T	ENST00000271915.4	37	c.1478	CCDS30880.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415762	0.83449	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	T;T;T	0.21734	1.99;1.99;1.99	4.67	4.67	0.58626	Ion transport 2 (1);	0.000000	0.64402	D	0.000020	T	0.24967	0.0606	L	0.33710	1.025	0.58432	D	0.999999	D;B	0.69078	0.997;0.272	D;B	0.79108	0.992;0.249	T	0.04281	-1.0963	10	0.72032	D	0.01	-37.0852	13.9547	0.64140	0.0:0.0:0.0:1.0	.	498;188	Q9UGI6;Q9UGI6-2	KCNN3_HUMAN;.	T	188;493;180	ENSP00000354764:N188T;ENSP00000271915:N493T;ENSP00000351295:N180T	ENSP00000271915:N493T	N	-	2	0	KCNN3	152972215	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.061000	0.71148	1.970000	0.57323	0.533000	0.62120	AAC	KCNN3	-	pfam_2pore_dom_K_chnl_dom	ENSG00000143603		0.517	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3		0	53	0	T	NM_002249		154705591	-1			no_errors	ENST00000271915	ensembl	human	novel	74_37	missense	14.29	24	4	SNP	1.000	G	G	154705591	T	G	154705591	3	3	142	1	0	0	0	0	1	0	0	0	8107	1725	60	4	737	4	KCNN3	1	154705591	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	39430201	154705591	94545030	11	36019											
FCRL1	115350	genome.wustl.edu	37	chr1	157771260	157771260	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatactaacctatttttcTtttgaggccgtagcaaaata	14	15	5	7	1	1	1	0	1	1	0	1	1	1	1	2	1	3	2	2	1	9	10			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:157771260T>G	ENST00000368176.3	-	6	1061	c.994A>C	c.(994-996)Aga>Cga	p.R332R	FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Silent_p.R332R|FCRL1_ENST00000358292.3_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTATTTTTCTTTTGAGGCCG	0.428																																					GBM(54;482 1003 11223 30131 35730)												0													71	71	71					1																	157771260		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.994A>C	1.37:g.157771260T>G			B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R332	ENST00000368176.3	37	c.994	CCDS1170.1	1																																																																																			FCRL1	-	NULL	ENSG00000163534		0.428	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1		0	46	0	T	NM_052938		157771260	-1			no_errors	ENST00000368176	ensembl	human	known	74_37	silent	37.50	30	18	SNP	0.970	G	G	157771260	T	G	157771260	2	3	142	1	0	0	0	0	0	0	0	1	5816	1617	56	4		4	FCRL1	1	157771260	Silent	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	3065669	157771260	91479361	12	36020											
PYHIN1	149628	genome.wustl.edu	37	chr1	158906935	158906935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccaacactgggagaccttGctgaaactcttaaaagagaa	16	8	8	9	0	1	3	0	1	1	2	1	5	1	3	2	1	4	1	2	1	6	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:158906935G>T	ENST00000368140.1	+	2	480	c.235G>T	c.(235-237)Gct>Tct	p.A79S	PYHIN1_ENST00000392252.3_Missense_Mutation_p.A79S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.A79S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.A79S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.A79S	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	79	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)					GGGAGACCTTGCTGAAACTCT	0.438																																																	0													54	56	55					1																	158906935		2203	4300	6503	SO:0001583	missense	0			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.235G>T	1.37:g.158906935G>T	ENSP00000357122:p.Ala79Ser		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.A79S	ENST00000368140.1	37	c.235	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126004	0.37533	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	2.83	1.88	0.25563	Pyrin (2);	.	.	.	.	T	0.50820	0.1638	M	0.64404	1.975	0.09310	N	1	D;D;D;D;D	0.67145	0.99;0.995;0.99;0.996;0.99	D;D;D;D;P	0.71870	0.921;0.966;0.921;0.975;0.878	T	0.33189	-0.9878	9	0.72032	D	0.01	.	6.9845	0.24721	0.0:0.0:0.7274:0.2725	.	79;79;79;79;79	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	S	79	ENSP00000407616:A79S;ENSP00000357122:A79S;ENSP00000357120:A79S;ENSP00000376083:A79S;ENSP00000376082:A79S;ENSP00000357117:A79S	ENSP00000357117:A79S	A	+	1	0	PYHIN1	157173559	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.184000	0.16939	0.488000	0.27723	0.563000	0.77884	GCT	PYHIN1	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	ENSG00000163564		0.438	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1		0	50	0	G	NM_152501		158906935	1			no_errors	ENST00000368140	ensembl	human	known	74_37	missense	24.14	22	7	SNP	0.002	T	T	158906935	G	T	158906935	3	4	142	1	0	0	0	0	1	0	0	0	12910	1319	46	3	237	3	PYHIN1	1	158906935	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	1135675	158906935	90343686	13	36021											
FASLG	356	genome.wustl.edu	37	chr1	172634916	172634916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacttccggggtcaatcttgCaacaacctgcccctgagcca	9	9	8	15	1	2	1	1	1	1	0	3	1	3	1	5	2	6	1	5	2	4	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:172634916C>T	ENST00000367721.2	+	4	790	c.606C>T	c.(604-606)tgC>tgT	p.C202C	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	202					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						GTCAATCTTGCAACAACCTGC	0.473																																					Ovarian(28;486 876 30334 44033)												0													123	115	118					1																	172634916		2203	4300	6503	SO:0001819	synonymous_variant	0			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.606C>T	1.37:g.172634916C>T			Q9BZP9	Silent	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL,prints_TNF,prints_TNF_C	p.C202	ENST00000367721.2	37	c.606	CCDS1304.1	1																																																																																			FASLG	-	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	ENSG00000117560		0.473	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASLG	HGNC	protein_coding	OTTHUMT00000084276.1		0	39	0	C			172634916	1			no_errors	ENST00000367721	ensembl	human	known	74_37	silent	45.00	22	18	SNP	0.243	T	T	172634916	C	T	172634916	2	4	142	1	0	0	0	0	0	0	0	1	5704	718	25	3		3	FASLG	1	172634916	Silent	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	13727981	172634916	76615705	14	36022											
TNR	7143	genome.wustl.edu	37	chr1	175335227	175335227	+	Missense_Mutation	SNP	A	A	G	1	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	ggtccagatgagggagatggAggtctccgaggaggctgtca	9	7	18	7	1	2	3	1	1	1	2	4	7	3	5	2	6	0	1	2	6	0	0			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:175335227A>G	ENST00000367674.2	-	11	2809	c.2101T>C	c.(2101-2103)Tcc>Ccc	p.S701P	TNR_ENST00000263525.2_Missense_Mutation_p.S701P			Q92752	TENR_HUMAN	tenascin R	701	Fibronectin type-III 5. {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)					AGGGAGATGGAGGTCTCCGAG	0.532																																																	0													123	102	109					1																	175335227		2203	4300	6503	SO:0001583	missense	0			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.2101T>C	1.37:g.175335227A>G	ENSP00000356646:p.Ser701Pro		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.S701P	ENST00000367674.2	37	c.2101	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262638	0.80358	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.63417	-0.04;-0.04	5.92	4.76	0.60689	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058840	0.64402	D	0.000002	T	0.80644	0.4662	M	0.92122	3.275	0.45366	D	0.998353	D	0.69078	0.997	D	0.62955	0.909	T	0.83287	-0.0035	10	0.87932	D	0	.	10.0375	0.42137	0.7308:0.0:0.0:0.2692	.	701	Q92752	TENR_HUMAN	P	701	ENSP00000356646:S701P;ENSP00000263525:S701P	ENSP00000263525:S701P	S	-	1	0	TNR	173601850	0.994000	0.37717	1.000000	0.80357	0.988000	0.76386	2.780000	0.47742	1.003000	0.39130	0.454000	0.30748	TCC	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4		0	38	0	A	NM_003285		175335227	-1			no_errors	ENST00000263525	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	G	G	175335227	A	G	175335227	3	3	142	1	0	0	0	0	1	0	0	0	16385	304	11	4	2027	4	TNR	1	175335227	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	2700311	175335227	73915394	15	36023											
C1orf125	126859	genome.wustl.edu	37	chr1	179504087	179504087	+	Silent	SNP	T	T	C	0	1	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	gcagaaaattcctcaaaatcTccaaagaaaggtaaggattg	18	8	8	7	0	2	2	1	0	1	2	4	3	3	3	2	2	0	2	2	2	7	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:179504087T>C	ENST00000367618.3	+	25	3408	c.3021T>C	c.(3019-3021)tcT>tcC	p.S1007S		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	1007										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						CCTCAAAATCTCCAAAGAAAG	0.318																																																	0													59	61	61					1																	179504087		2056	4235	6291	SO:0001819	synonymous_variant	0			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.3021T>C	1.37:g.179504087T>C			Q6AWB2|Q96LJ3|Q96M01	Silent	SNP	pfam_Axonemal_dynein_light_chain	p.S1007	ENST00000367618.3	37	c.3021	CCDS30948.1	1																																																																																			AXDND1	-	NULL	ENSG00000162779		0.318	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1		0	52	0	T	NM_144696		179504087	1			no_errors	ENST00000367618	ensembl	human	known	74_37	silent	44.44	15	12	SNP	0.000	C	C	179504087	T	C	179504087	2	2	142	1	0	0	0	0	0	0	0	1	2000	1538	54	4		4	C1orf125	1	179504087	Silent	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	4168860	179504087	69746534	16	36024											
HMCN1	83872	genome.wustl.edu	37	chr1	186034411	186034411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catggcacaaagatgggcagCccctccaagaagatgaagcc	14	4	11	12	0	0	4	0	1	0	3	1	4	1	4	4	2	2	2	4	2	4	0			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:186034411C>T	ENST00000271588.4	+	49	7784	c.7555C>T	c.(7555-7557)Ccc>Tcc	p.P2519S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2519S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2519	Ig-like C2-type 23.				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						AGATGGGCAGCCCCTCCAAGA	0.408																																																	0													66	64	65					1																	186034411		2203	4300	6503	SO:0001583	missense	0			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.7555C>T	1.37:g.186034411C>T	ENSP00000271588:p.Pro2519Ser		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.P2519S	ENST00000271588.4	37	c.7555	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	5.978	0.364388	0.11296	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.53	4.62	0.57501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.518559	0.21536	N	0.072968	T	0.62478	0.2431	M	0.65677	2.01	0.28853	N	0.895942	B	0.32071	0.355	B	0.34931	0.192	T	0.54892	-0.8225	10	0.12103	T	0.63	.	11.567	0.50811	0.0:0.8071:0.1243:0.0686	.	2519	Q96RW7	HMCN1_HUMAN	S	2519	ENSP00000271588:P2519S;ENSP00000356462:P2519S	ENSP00000271588:P2519S	P	+	1	0	HMCN1	184301034	0.930000	0.31532	0.863000	0.33907	0.461000	0.32589	1.735000	0.38176	1.329000	0.45376	0.561000	0.74099	CCC	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143341		0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	49	0	C	NM_031935		186034411	1			no_errors	ENST00000271588	ensembl	human	known	74_37	missense	41.46	24	17	SNP	0.953	T	T	186034411	C	T	186034411	3	4	142	1	0	0	0	0	1	0	0	0	7247	739	26	3	7749	3	HMCN1	1	186034411	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	6530324	186034411	63216210	17	36025											
B3GALT2	8707	genome.wustl.edu	37	chr1	193149573	193149573	+	Missense_Mutation	SNP	A	A	T	1	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	aattaggtggctgtatttacAgctcgaataagagactcgcc	12	11	10	8	2	0	1	0	0	0	1	2	3	0	1	1	2	2	3	1	2	6	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:193149573A>T	ENST00000367434.4	-	2	1875	c.1120T>A	c.(1120-1122)Tgt>Agt	p.C374S	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	374					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	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(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CTGTATTTACAGCTCGAATAA	0.418																																																	0													111	111	111					1																	193149573		2203	4300	6503	SO:0001583	missense	0			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"Beta 3-glycosyltransferases"	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.1120T>A	1.37:g.193149573A>T	ENSP00000356404:p.Cys374Ser		B2RAB1|Q9BZQ9	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.C374S	ENST00000367434.4	37	c.1120	CCDS1383.1	1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.944009	0.73672	.	.	ENSG00000162630	ENST00000367434	T	0.55234	0.53	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77236	-0.2662	10	0.72032	D	0.01	.	15.22	0.73303	1.0:0.0:0.0:0.0	.	374	O43825	B3GT2_HUMAN	S	374	ENSP00000356404:C374S	ENSP00000356404:C374S	C	-	1	0	B3GALT2	191416196	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	1.991000	0.58162	0.454000	0.30748	TGT	B3GALT2	-	NULL	ENSG00000162630		0.418	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT2	HGNC	protein_coding	OTTHUMT00000086759.1		0	44	0	A	NM_003783		193149573	-1			no_errors	ENST00000367434	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	193149573	A	T	193149573	3	4	142	1	0	0	0	0	1	0	0	0	1249	188	7	5	152	5	B3GALT2	1	193149573	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	7115162	193149573	56101048	18	36026											
CACNA1S	779	genome.wustl.edu	37	chr1	201035042	201035042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacgatgttcccgatggtgCtgatggccacgaacatgcac	9	8	12	12	3	0	1	0	1	0	0	1	4	1	1	2	2	3	4	2	2	1	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:201035042C>T	ENST00000362061.3	-	22	3003	c.2777G>A	c.(2776-2778)aGc>aAc	p.S926N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.S926N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	926					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)	CCCGATGGTGCTGATGGCCAC	0.607																																																	0													93	72	79					1																	201035042		2203	4300	6503	SO:0001583	missense	0			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.2777G>A	1.37:g.201035042C>T	ENSP00000355192:p.Ser926Asn		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.S926N	ENST00000362061.3	37	c.2777	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781150	0.49891	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97480	-4.4;-4.4	4.41	3.49	0.39957	Ion transport (1);	0.245012	0.37669	N	0.001988	D	0.93851	0.8033	L	0.35793	1.09	0.21627	N	0.999617	B	0.15141	0.012	B	0.28305	0.088	D	0.88508	0.3087	10	0.87932	D	0	.	7.9323	0.29909	0.0:0.7478:0.0:0.2522	.	926	Q13698	CAC1S_HUMAN	N	926	ENSP00000355192:S926N;ENSP00000356307:S926N	ENSP00000355192:S926N	S	-	2	0	CACNA1S	199301665	0.258000	0.24033	1.000000	0.80357	0.996000	0.88848	1.548000	0.36201	0.966000	0.38159	0.561000	0.74099	AGC	CACNA1S	-	pfam_Ion_trans_dom	ENSG00000081248		0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1		0	23	0	C	NM_000069		201035042	-1			no_errors	ENST00000362061	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	T	T	201035042	C	T	201035042	3	4	142	1	0	0	0	0	1	0	0	0	2554	797	28	3	2936	3	CACNA1S	1	201035042	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	7885469	201035042	48215579	19	36027											
FAM71A	149647	genome.wustl.edu	37	chr1	212798688	212798688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgcaattgtgtcccgctCttgacacacgggatgacctc	8	11	9	13	2	2	2	0	2	2	0	4	3	3	3	2	1	1	2	2	1	1	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:212798688C>G	ENST00000294829.3	+	1	900	c.469C>G	c.(469-471)Ctt>Gtt	p.L157V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	157						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTGTCCCGCTCTTGACACACG	0.502																																																	0													115	119	118					1																	212798688		2203	4300	6503	SO:0001583	missense	0				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.469C>G	1.37:g.212798688C>G	ENSP00000294829:p.Leu157Val		Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.L157V	ENST00000294829.3	37	c.469	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	C	7.195	0.592347	0.13812	.	.	ENSG00000162771	ENST00000294829	T	0.17054	2.3	4.54	2.67	0.31697	.	0.946097	0.08749	N	0.899310	T	0.26011	0.0634	L	0.43152	1.355	0.09310	N	1	D	0.56287	0.975	P	0.59056	0.851	T	0.14980	-1.0453	10	0.33141	T	0.24	-3.3371	6.4978	0.22152	0.0:0.7876:0.0:0.2124	.	157	Q8IYT1	FA71A_HUMAN	V	157	ENSP00000294829:L157V	ENSP00000294829:L157V	L	+	1	0	FAM71A	210865311	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	0.869000	0.27996	1.277000	0.44412	0.563000	0.77884	CTT	FAM71A	-	pfam_DUF3699	ENSG00000162771		0.502	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1		0	25	0	C	NM_153606		212798688	1			no_errors	ENST00000294829	ensembl	human	known	74_37	missense	40.00	12	8	SNP	0.004	G	G	212798688	C	G	212798688	3	3	142	1	0	0	0	0	1	0	0	0	5629	913	32	5	471	5	FAM71A	1	212798688	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	11763646	212798688	36451933	20	36028											
USH2A	7399	genome.wustl.edu	37	chr1	216373055	216373055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggacttagtctttggggaGgggcctgggctgtggtcact	4	12	18	7	0	2	0	1	0	1	0	2	2	2	2	1	7	0	1	1	7	1	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:216373055G>T	ENST00000307340.3	-	17	4111	c.3725C>A	c.(3724-3726)cCt>cAt	p.P1242H	USH2A_ENST00000366943.2_Missense_Mutation_p.P1242H|USH2A_ENST00000366942.3_Missense_Mutation_p.P1242H|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1242	Fibronectin type-III 2. {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)		TCTTTGGGGAGGGGCCTGGGC	0.478										HNSCC(13;0.011)																																							0													91	88	89					1																	216373055		2203	4300	6503	SO:0001583	missense	0			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.3725C>A	1.37:g.216373055G>T	ENSP00000305941:p.Pro1242His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.P1242H	ENST00000307340.3	37	c.3725	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983453	0.74474	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.56275	0.52;0.47;0.47	5.87	3.97	0.46021	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.322096	0.22282	N	0.062116	T	0.74650	0.3744	M	0.88704	2.975	0.47407	D	0.999418	D;D	0.76494	0.999;0.994	D;P	0.68353	0.957;0.819	T	0.78927	-0.2011	10	0.72032	D	0.01	.	13.009	0.58722	0.0:0.1234:0.7481:0.1285	.	1242;1242	O75445-2;O75445	.;USH2A_HUMAN	H	1242	ENSP00000305941:P1242H;ENSP00000355910:P1242H;ENSP00000355909:P1242H	ENSP00000305941:P1242H	P	-	2	0	USH2A	214439678	1.000000	0.71417	0.342000	0.25602	0.928000	0.56348	3.835000	0.55805	0.896000	0.36366	0.655000	0.94253	CCT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	58	0	G	NM_007123		216373055	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	15.79	48	9	SNP	0.985	T	T	216373055	G	T	216373055	3	4	142	1	0	0	0	0	1	0	0	0	17085	1000	35	3	12121	3	USH2A	1	216373055	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	3574367	216373055	32877566	21	36029											
USH2A	7399	genome.wustl.edu	37	chr1	216462627	216462627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaaaactcacctgatCacaaagaatgctaccatttc	16	9	4	12	0	3	3	3	1	0	2	4	3	3	3	2	0	3	1	2	0	5	2	rs146824138		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:216462627C>A	ENST00000307340.3	-	11	2352	c.1966G>T	c.(1966-1968)Gat>Tat	p.D656Y	USH2A_ENST00000366943.2_Missense_Mutation_p.D656Y|USH2A_ENST00000366942.3_Missense_Mutation_p.D656Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	656	Laminin EGF-like 3. {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)		CTCACCTGATCACAAAGAATG	0.393										HNSCC(13;0.011)																																							0			GRCh37	CM071129	USH2A	M	rs146824138						133	120	124					1																	216462627		2203	4300	6503	SO:0001583	missense	0			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.1966G>T	1.37:g.216462627C>A	ENSP00000305941:p.Asp656Tyr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D656Y	ENST00000307340.3	37	c.1966	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774314	0.49786	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.58797	0.31;0.31;0.31	5.12	4.19	0.49359	EGF-like, laminin (3);	0.000000	0.41097	U	0.000947	T	0.78923	0.4360	M	0.93763	3.455	0.44834	D	0.997841	D;D	0.61080	0.989;0.989	P;P	0.59643	0.861;0.832	D	0.84838	0.0806	10	0.66056	D	0.02	.	14.2674	0.66129	0.0:0.7166:0.2834:0.0	.	656;656	O75445-2;O75445	.;USH2A_HUMAN	Y	656	ENSP00000305941:D656Y;ENSP00000355910:D656Y;ENSP00000355909:D656Y	ENSP00000305941:D656Y	D	-	1	0	USH2A	214529250	1.000000	0.71417	0.953000	0.39169	0.361000	0.29550	2.591000	0.46163	1.242000	0.43836	0.460000	0.39030	GAT	USH2A	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000042781		0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	67	0	C	NM_007123		216462627	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	A	A	216462627	C	A	216462627	3	1	142	1	0	0	0	0	1	0	0	0	17085	826	29	3	13904	3	USH2A	1	216462627	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	89572	216462627	32787994	22	36030											
DUSP10	11221	genome.wustl.edu	37	chr1	221912696	221912696	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagggctgcccaccccacTtgatggacttagagagcctg	9	7	11	14	0	0	2	0	1	0	1	0	4	0	3	4	2	2	1	4	2	1	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:221912696T>G	ENST00000366899.3	-	2	629	c.391A>C	c.(391-393)Agt>Cgt	p.S131R	DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	131					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CCCACCCCACTTGATGGACTT	0.527																																																	0													80	72	75					1																	221912696		2203	4300	6503	SO:0001583	missense	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.391A>C	1.37:g.221912696T>G	ENSP00000355866:p.Ser131Arg		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.S131R	ENST00000366899.3	37	c.391	CCDS1528.1	1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809901	0.31961	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.02446	4.29	5.76	2.8	0.32819	.	0.209077	0.43579	D	0.000548	T	0.01905	0.0060	N	0.14661	0.345	0.54753	D	0.999989	B	0.11235	0.004	B	0.15484	0.013	T	0.53933	-0.8368	10	0.41790	T	0.15	.	5.8296	0.18572	0.1346:0.6535:0.0:0.2118	.	131	Q9Y6W6	DUS10_HUMAN	R	131;76	ENSP00000355866:S131R	ENSP00000355866:S131R	S	-	1	0	DUSP10	219979319	0.010000	0.17322	0.971000	0.41717	0.974000	0.67602	0.893000	0.28336	0.765000	0.33221	-0.202000	0.12741	AGT	DUSP10	-	NULL	ENSG00000143507		0.527	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0	57	0	T	NM_007207		221912696	-1			no_errors	ENST00000366899	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.688	G	G	221912696	T	G	221912696	3	3	142	1	0	0	0	0	1	0	0	0	4824	1609	56	4	1069	4	DUSP10	1	221912696	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	5450069	221912696	27337925	23	36031											
RYR2	6262	genome.wustl.edu	37	chr1	237936826	237936826	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctatttcccaggaatcaAttagtgacttttattggtat	10	18	6	7	0	2	1	1	1	1	0	4	2	3	2	1	2	0	1	1	2	6	7			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:237936826A>G	ENST00000366574.2	+	87	11970	c.11653A>G	c.(11653-11655)Att>Gtt	p.I3885V	RYR2_ENST00000542537.1_Missense_Mutation_p.I3869V|RYR2_ENST00000360064.6_Missense_Mutation_p.I3891V|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3885					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)			CCAGGAATCAATTAGTGACTT	0.333																																																	0													96	92	93					1																	237936826		1812	4066	5878	SO:0001583	missense	0			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.11653A>G	1.37:g.237936826A>G	ENSP00000355533:p.Ile3885Val		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.I3891V	ENST00000366574.2	37	c.11671	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340079	0.60963	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97066	-4.23;-4.2;-4.22	5.13	4.0	0.46444	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000011	D	0.96358	0.8812	N	0.25957	0.775	0.80722	D	1	D;D	0.58620	0.973;0.983	D;P	0.75484	0.986;0.869	D	0.94602	0.7797	10	0.33141	T	0.24	-12.2372	11.0696	0.47995	0.927:0.0:0.073:0.0	.	859;3885	B4DGV4;Q92736	.;RYR2_HUMAN	V	3885;3891;3869;859	ENSP00000355533:I3885V;ENSP00000353174:I3891V;ENSP00000443798:I3869V	ENSP00000353174:I3891V	I	+	1	0	RYR2	236003449	1.000000	0.71417	0.860000	0.33809	0.910000	0.53928	7.472000	0.80996	0.892000	0.36259	0.523000	0.50628	ATT	RYR2	-	pfam_RIH_assoc-dom	ENSG00000198626		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0	93	0	A	NM_001035		237936826	1			no_errors	ENST00000360064	ensembl	human	known	74_37	missense	22.58	48	14	SNP	0.995	G	G	237936826	A	G	237936826	3	3	142	1	0	0	0	0	1	0	0	0	13814	101	4	4	11999	4	RYR2	1	237936826	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	16024130	237936826	11313795	24	36032											
TPO	7173	genome.wustl.edu	37	chr2	1440109	1440109	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccccaaaatgcccaaacacTtgcctggcgaacaaatacag	15	5	6	15	1	0	0	0	0	0	0	0	1	0	0	4	1	5	0	4	1	6	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:1440109T>C	ENST00000345913.4	+	5	526	c.435T>C	c.(433-435)acT>acC	p.T145T	TPO_ENST00000382269.3_Silent_p.T145T|TPO_ENST00000329066.4_Silent_p.T145T|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.T145T|TPO_ENST00000346956.3_Silent_p.T145T|TPO_ENST00000337415.3_Silent_p.T145T|TPO_ENST00000382201.3_Silent_p.T145T|TPO_ENST00000382198.1_Silent_p.T145T|TPO_ENST00000539820.1_Silent_p.T145T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	145					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)	GCCCAAACACTTGCCTGGCGA	0.433																																																	0													137	131	133					2																	1440109		2203	4300	6503	SO:0001819	synonymous_variant	0				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.435T>C	2.37:g.1440109T>C			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.T145	ENST00000345913.4	37	c.435	CCDS1643.1	2																																																																																			TPO	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000115705		0.433	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2		0	64	0	T	NM_000547		1440109	1			no_errors	ENST00000329066	ensembl	human	known	74_37	silent	20.37	43	11	SNP	0.017	C	C	1440109	T	C	1440109	2	2	142	1	0	0	0	0	0	0	0	1	16458	1596	56	4		4	TPO	2	1440109	Silent	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09		1440109	241759264	25	36033											
PDIA6	10130	genome.wustl.edu	37	chr2	10930911	10930911	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccagtttcacttttcctttCgtctgctcttttacttctga	4	20	5	12	1	4	1	1	1	3	0	6	1	5	1	2	0	2	2	2	0	1	7	rs145487229	byFrequency	TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:10930911C>G	ENST00000272227.3	-	7	780	c.633G>C	c.(631-633)acG>acC	p.T211T	PDIA6_ENST00000404371.2_Silent_p.T263T|PDIA6_ENST00000404824.2_Silent_p.T259T|PDIA6_ENST00000540494.1_Silent_p.T208T|PDIA6_ENST00000381611.4_Silent_p.T216T	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	211	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)	p.T211T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTTTTCCTTTCGTCTGCTCTT	0.443																																					GBM(73;509 1219 34219 41343 41551)												1	Substitution - coding silent(1)	lung(1)											152	146	148					2																	10930911		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.633G>C	2.37:g.10930911C>G			B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.T216	ENST00000272227.3	37	c.648	CCDS1675.1	2																																																																																			PDIA6	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase	ENSG00000143870		0.443	PDIA6-001	KNOWN	basic|CCDS	protein_coding	PDIA6	HGNC	protein_coding	OTTHUMT00000206933.1		0	23	0	C	NM_005742		10930911	-1			no_errors	ENST00000381611	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.000	G	G	10930911	C	G	10930911	2	3	142	1	0	0	0	0	0	0	0	1	11711	871	31	5		5	PDIA6	2	10930911	Silent	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	9490802	10930911	232268462	26	36034											
APOB	338	genome.wustl.edu	37	chr2	21252655	21252655	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggcccatatttccaatGacctgcattgaagaaaagaa	14	11	8	8	0	0	4	0	2	0	2	1	4	1	4	3	1	1	2	3	1	6	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:21252655G>T	ENST00000233242.1	-	12	1600	c.1473C>A	c.(1471-1473)gtC>gtA	p.V491V	APOB_ENST00000399256.4_Silent_p.V491V	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	491	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATTTCCAATGACCTGCATTG	0.418																																																	0													144	139	140					2																	21252655		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1473C>A	2.37:g.21252655G>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.V491	ENST00000233242.1	37	c.1473	CCDS1703.1	2																																																																																			APOB	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	ENSG00000084674		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0	65	0	G			21252655	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	silent	23.81	32	10	SNP	1.000	T	T	21252655	G	T	21252655	2	4	142	1	0	0	0	0	0	0	0	1	785	1277	45	3		3	APOB	2	21252655	Silent	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	10321744	21252655	221946718	27	36035											
LTBP1	4052	genome.wustl.edu	37	chr2	33482362	33482362	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaatctagctgcttttaagGaaatctgtcctggtggaatg	11	13	10	7	0	2	0	0	0	2	0	3	2	3	2	1	3	2	2	1	3	5	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:33482362G>T	ENST00000404816.2	+	12	2532	c.2179G>T	c.(2179-2181)Gaa>Taa	p.E727*	LTBP1_ENST00000390003.4_Nonsense_Mutation_p.E401*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.E401*|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.E727*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.E401*|LTBP1_ENST00000402934.1_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	727	TB 2.				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)				TGCTTTTAAGGAAATCTGTCC	0.383																																																	0													76	75	75					2																	33482362		2203	4300	6503	SO:0001587	stop_gained	0				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.2179G>T	2.37:g.33482362G>T	ENSP00000386043:p.Glu727*		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.E727*	ENST00000404816.2	37	c.2179	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	G	40	7.930937	0.98568	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000407925;ENST00000468091	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	.	.	.	X	727;727;401;401;401;44	.	ENSP00000346467:E727X	E	+	1	0	LTBP1	33335866	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.850000	0.92190	2.736000	0.93811	0.655000	0.94253	GAA	LTBP1	-	pfam_TB_dom,superfamily_TB_dom	ENSG00000049323		0.383	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2		0	86	0	G	NM_206943		33482362	1			no_errors	ENST00000354476	ensembl	human	known	74_37	nonsense	6.25	75	5	SNP	1.000	T	T	33482362	G	T	33482362	4	4	142	1	0	0	0	0	0	1	0	0	9108	1175	41	3	2280	3	LTBP1	2	33482362	Nonsense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	12229707	33482362	209717011	28	36036											
CCDC88A	55704	genome.wustl.edu	37	chr2	55562102	55562102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctttttctttataatGttccaattcttttttaattt	7	26	1	7	0	3	0	0	0	3	0	5	0	4	0	2	0	0	1	2	0	4	12			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:55562102G>A	ENST00000436346.1	-	15	2696	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y	AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.H619Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.H619Y|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.H619Y|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	619					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						TCTTTATAATGTTCCAATTCT	0.244																																																	0													28	26	27					2																	55562102		2199	4294	6493	SO:0001583	missense	0			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.1855C>T	2.37:g.55562102G>A	ENSP00000410608:p.His619Tyr		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.H619Y	ENST00000436346.1	37	c.1855		2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011158	0.35511	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.18	5.18	0.71444	.	0.134142	0.33272	U	0.005082	T	0.31702	0.0805	L	0.40543	1.245	0.80722	D	1	B;B;B	0.26744	0.158;0.087;0.108	B;B;B	0.29663	0.105;0.045;0.061	T	0.13255	-1.0516	10	0.72032	D	0.01	-8.7542	18.6882	0.91573	0.0:0.0:1.0:0.0	.	619;619;619	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Y	619	ENSP00000338728:H619Y;ENSP00000263630:H619Y;ENSP00000410608:H619Y;ENSP00000404431:H619Y	ENSP00000263630:H619Y	H	-	1	0	CCDC88A	55415606	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.570000	0.45981	2.400000	0.81607	0.561000	0.74099	CAT	CCDC88A	-	NULL	ENSG00000115355		0.244	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding			0	65	0	G	NM_017571		55562102	-1			no_errors	ENST00000436346	ensembl	human	known	74_37	missense	27.27	47	18	SNP	1.000	A	A	55562102	G	A	55562102	3	1	142	1	0	0	0	0	1	0	0	0	2870	1377	48	3	3832	3	CCDC88A	2	55562102	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	22079740	55562102	187637271	29	36037											
MEIS1	4211	genome.wustl.edu	37	chr2	66775136	66775136	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacacgggactcaccatccTtcaagtgaacaattggtaag	14	8	9	10	1	2	2	2	1	0	1	3	3	3	3	2	2	1	1	2	2	4	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:66775136T>G	ENST00000272369.9	+	9	1407	c.950T>G	c.(949-951)cTt>cGt	p.L317R	MEIS1_ENST00000495021.2_Missense_Mutation_p.L252R|MEIS1_ENST00000488550.1_Missense_Mutation_p.L317R|MEIS1_ENST00000398506.2_Missense_Mutation_p.L315R|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000407092.2_Missense_Mutation_p.L317R|MEIS1_ENST00000560281.2_Missense_Mutation_p.L317R|MEIS1_ENST00000444274.2_3'UTR	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	317					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						CTCACCATCCTTCAAGTGAAC	0.428																																																	0													117	116	116					2																	66775136		1949	4148	6097	SO:0001583	missense	0				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.950T>G	2.37:g.66775136T>G	ENSP00000272369:p.Leu317Arg		A8MV50	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L317R	ENST00000272369.9	37	c.950	CCDS46309.1	2	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565845	0.65651	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000495021;ENST00000402908;ENST00000409517;ENST00000450027	D;D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	5.67	5.67	0.87782	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	N	0.04132	-0.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.999	D	0.92688	0.6164	10	0.87932	D	0	.	16.2045	0.82114	0.0:0.0:0.0:1.0	.	252;315;317;317	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	R	317;317;315;252;173;67;129	ENSP00000272369:L317R;ENSP00000384461:L317R;ENSP00000381518:L315R;ENSP00000440571:L252R;ENSP00000386708:L67R;ENSP00000395827:L129R	ENSP00000272369:L317R	L	+	2	0	MEIS1	66628640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.288000	0.76882	0.533000	0.62120	CTT	MEIS1	-	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000143995		0.428	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4		0	83	0	T	NM_002398		66775136	1			no_errors	ENST00000407092	ensembl	human	known	74_37	missense	21.05	60	16	SNP	1.000	G	G	66775136	T	G	66775136	3	3	142	1	0	0	0	0	1	0	0	0	9505	1609	56	4	984	4	MEIS1	2	66775136	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	11213034	66775136	176424237	30	36038											
UGGT1	56886	genome.wustl.edu	37	chr2	128885000	128885000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcaatggacttcacatGgatttagatacacaggatat	14	13	7	7	0	3	1	3	0	0	1	3	4	3	4	0	3	1	0	0	3	4	6	rs142963053	byFrequency	TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:128885000G>T	ENST00000259253.6	+	12	1247	c.1200G>T	c.(1198-1200)atG>atT	p.M400I	UGGT1_ENST00000375990.3_Missense_Mutation_p.M376I	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	400					'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						GACTTCACATGGATTTAGATA	0.343																																																	0													81	83	82					2																	128885000		2203	4300	6503	SO:0001583	missense	0			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.1200G>T	2.37:g.128885000G>T	ENSP00000259253:p.Met400Ile		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.M400I	ENST00000259253.6	37	c.1200	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	1.368	-0.586867	0.03827	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.22945	1.93;1.93	5.51	-1.42	0.08913	.	0.151953	0.56097	N	0.000022	T	0.02494	0.0076	N	0.00063	-2.32	0.21604	N	0.999623	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34700	-0.9818	10	0.02654	T	1	.	1.0295	0.01535	0.215:0.1901:0.1121:0.4829	.	376;400	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	I	376;400	ENSP00000365158:M376I;ENSP00000259253:M400I	ENSP00000259253:M400I	M	+	3	0	UGGT1	128601470	1.000000	0.71417	0.980000	0.43619	0.947000	0.59692	0.840000	0.27600	-0.493000	0.06678	-1.799000	0.00621	ATG	UGGT1	-	NULL	ENSG00000136731		0.343	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2		0	53	0	G	NM_020120		128885000	1			no_errors	ENST00000259253	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.980	T	T	128885000	G	T	128885000	3	4	142	1	0	0	0	0	1	0	0	0	16990	1348	47	3	1246	3	UGGT1	2	128885000	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	62109864	128885000	114314373	31	36039											
TTN	7273	genome.wustl.edu	37	chr2	179590368	179590368	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcagtttggagacaaatcTtggtggttctgaacaggaaa	12	12	12	5	0	3	2	1	1	2	1	3	4	3	3	0	4	1	3	0	4	3	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:179590368T>G	ENST00000591111.1	-	69	19836	c.19612A>C	c.(19612-19614)Aga>Cga	p.R6538R	TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.R6855R|TTN_ENST00000342992.6_Silent_p.R5611R|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12140	Ig-like 47.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGACAAATCTTGGTGGTTCT	0.428																																																	0													77	73	74					2																	179590368		1866	4099	5965	SO:0001819	synonymous_variant	0			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.19612A>C	2.37:g.179590368T>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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R5611	ENST00000591111.1	37	c.16831		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	29	0	T	NM_133378		179590368	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	36.36	14	8	SNP	0.918	G	G	179590368	T	G	179590368	2	3	142	1	0	0	0	0	0	0	0	1	16784	1617	56	4		4	TTN	2	179590368	Silent	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	50705368	179590368	63609005	32	36040											
MSTN	2660	genome.wustl.edu	37	chr2	190924966	190924966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatgtcaagtttcagagatCggattccagtataccttgta	11	14	8	8	1	3	1	3	0	0	1	5	3	4	2	2	1	1	3	2	1	4	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:190924966C>T	ENST00000260950.4	-	2	701	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	190					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)			TTTCAGAGATCGGATTCCAGT	0.428																																																	0													197	184	188					2																	190924966		2203	4300	6503	SO:0001583	missense	0			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.569G>A	2.37:g.190924966C>T	ENSP00000260950:p.Arg190Gln		A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.R190Q	ENST00000260950.4	37	c.569	CCDS2303.1	2	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923567	0.73213	.	.	ENSG00000138379	ENST00000260950	T	0.70282	-0.47	5.76	5.76	0.90799	Transforming growth factor-beta, N-terminal (1);	0.060128	0.64402	D	0.000003	T	0.71099	0.3300	M	0.64080	1.96	0.80722	D	1	B	0.33135	0.399	B	0.31751	0.135	T	0.71334	-0.4624	10	0.54805	T	0.06	-6.1684	19.9636	0.97259	0.0:1.0:0.0:0.0	.	190	O14793	GDF8_HUMAN	Q	190	ENSP00000260950:R190Q	ENSP00000260950:R190Q	R	-	2	0	MSTN	190633211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.718000	0.92993	0.650000	0.86243	CGA	MSTN	-	pfam_TGF-b_N	ENSG00000138379		0.428	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	HGNC	protein_coding	OTTHUMT00000255917.2		0	62	0	C	NM_005259		190924966	-1			no_errors	ENST00000260950	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	190924966	C	T	190924966	3	4	142	1	0	0	0	0	1	0	0	0	9931	884	31	1	566	1	MSTN	2	190924966	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	11334598	190924966	52274407	33	36041											
ALS2CR8	79800	genome.wustl.edu	37	chr2	203818736	203818736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgttgttaagatgtccctGaagagaaacccagtaacaga	14	11	9	7	0	0	4	0	1	0	3	1	5	1	4	2	0	2	3	2	0	4	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:203818736G>A	ENST00000402905.3	+	6	757	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	CARF_ENST00000545253.1_Missense_Mutation_p.E58K|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.E70K|CARF_ENST00000456821.2_Missense_Mutation_p.E134K|CARF_ENST00000428585.1_Missense_Mutation_p.E70K|CARF_ENST00000434998.1_Missense_Mutation_p.E44K|CARF_ENST00000438828.2_Missense_Mutation_p.E146K|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000414439.1_Missense_Mutation_p.E44K|CARF_ENST00000320443.8_Missense_Mutation_p.E146K|CARF_ENST00000444724.1_Missense_Mutation_p.E146K	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	146					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)										AGATGTCCCTGAAGAGAAACC	0.333																																																	0													110	103	105					2																	203818736		1839	4092	5931	SO:0001583	missense	0			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.436G>A	2.37:g.203818736G>A	ENSP00000384006:p.Glu146Lys		B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	NULL	p.E146K	ENST00000402905.3	37	c.436	CCDS42801.1	2	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089376	0.55968	.	.	ENSG00000138380	ENST00000402905;ENST00000444724;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000447539;ENST00000456821;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.07	3.27	0.37495	.	0.237397	0.35013	N	0.003503	T	0.47377	0.1442	L	0.41236	1.265	0.36745	D	0.88241	B;B;B;B;B	0.19935	0.018;0.008;0.04;0.008;0.022	B;B;B;B;B	0.22601	0.019;0.02;0.04;0.014;0.018	T	0.49428	-0.8941	9	0.54805	T	0.06	-7.2289	10.199	0.43071	0.1591:0.0:0.8409:0.0	.	58;70;146;146;146	B4DIA7;G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;.;AL2S8_HUMAN;.	K	146;146;44;70;58;70;70;134;44;146;146	.	ENSP00000316224:E146K	E	+	1	0	ALS2CR8	203526981	0.998000	0.40836	1.000000	0.80357	0.899000	0.52679	3.028000	0.49705	0.523000	0.28482	0.655000	0.94253	GAA	CARF	-	NULL	ENSG00000138380		0.333	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARF	HGNC	protein_coding	OTTHUMT00000335768.5		0	64	0	G	NM_001104586		203818736	1			no_errors	ENST00000320443	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	A	A	203818736	G	A	203818736	3	1	142	1	0	0	0	0	1	0	0	0	555	1291	45	3	450	3	ALS2CR8	2	203818736	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	12893770	203818736	39380637	34	36042											
ERBB4	2066	genome.wustl.edu	37	chr2	212812223	212812223	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttctgtagtttaaaaatattGccaaggcatatcgatcctca	13	14	6	8	1	2	0	1	0	1	0	4	1	3	0	2	1	1	3	2	1	7	7			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:212812223G>T	ENST00000342788.4	-	3	663	c.353C>A	c.(352-354)gCa>gAa	p.A118E	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.A118E|ERBB4_ENST00000436443.1_Missense_Mutation_p.A118E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	118					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)	TAAAAATATTGCCAAGGCATA	0.373										TSP Lung(8;0.080)																																							0													113	108	110					2																	212812223		2203	4300	6503	SO:0001583	missense	0			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.353C>A	2.37:g.212812223G>T	ENSP00000342235:p.Ala118Glu		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A118E	ENST00000342788.4	37	c.353	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.559461|4.559461	0.86335|0.86335	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846|ENST00000260943	T;T;T;T|.	0.80480|.	-1.38;-1.38;-1.38;-1.38|.	5.54|5.54	5.54|5.54	0.83059|0.83059	EGF receptor, L domain (1);|.	0.101382|.	0.64402|.	D|.	0.000002|.	D|D	0.82393|0.82393	0.5027|0.5027	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.966;0.998;0.999|.	T|T	0.82991|0.82991	-0.0182|-0.0182	10|5	0.56958|.	D|.	0.05|.	.|.	19.4961|19.4961	0.95073|0.95073	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	118;118;118;118|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	E|K	118;118;118;59|118	ENSP00000342235:A118E;ENSP00000403204:A118E;ENSP00000385565:A118E;ENSP00000405564:A59E|.	ENSP00000342235:A118E|.	A|Q	-|-	2|1	0|0	ERBB4|ERBB4	212520468|212520468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.596000|6.596000	0.74113|0.74113	2.601000|2.601000	0.87937|0.87937	0.557000|0.557000	0.71058|0.71058	GCA|CAA	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000178568		0.373	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1		0	79	0	G	NM_001042599		212812223	-1			no_errors	ENST00000342788	ensembl	human	known	74_37	missense	26.67	33	12	SNP	1.000	T	T	212812223	G	T	212812223	3	4	142	1	0	0	0	0	1	0	0	0	5225	1319	46	3	3677	3	ERBB4	2	212812223	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	8993487	212812223	30387150	35	36043											
AGAP1	116987	genome.wustl.edu	37	chr2	236706458	236706458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtccataggaccctgCaagtcgctacctaattctcc	9	10	7	15	1	1	0	0	0	1	0	4	1	2	1	4	1	3	3	4	1	4	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:236706458C>T	ENST00000304032.8	+	7	1309	c.729C>T	c.(727-729)tgC>tgT	p.C243C	AGAP1_ENST00000336665.5_Silent_p.C243C|AGAP1_ENST00000409538.1_Silent_p.C508C|AGAP1_ENST00000428334.2_Silent_p.C82C|AGAP1_ENST00000409457.1_Silent_p.C243C	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	243	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TAGGACCCTGCAAGTCGCTAC	0.512																																																	0													175	176	176					2																	236706458		2203	4300	6503	SO:0001819	synonymous_variant	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.729C>T	2.37:g.236706458C>T			B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.C243	ENST00000304032.8	37	c.729	CCDS33408.1	2																																																																																			AGAP1	-	NULL	ENSG00000157985		0.512	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2		0	60	0	C	NM_014914		236706458	1			no_errors	ENST00000304032	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	236706458	C	T	236706458	2	4	142	1	0	0	0	0	0	0	0	1	366	718	25	3		3	AGAP1	2	236706458	Silent	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	23894235	236706458	6492915	36	36044											
PHF7	51533	genome.wustl.edu	37	chr3	52456288	52456288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctcagacttatatcagcGctatcagcactgtgatgccc	9	13	7	12	1	3	2	3	1	1	1	4	2	3	2	1	0	3	2	1	0	3	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:52456288G>A	ENST00000327906.3	+	9	1391	c.731G>A	c.(730-732)cGc>cAc	p.R244H	PHF7_ENST00000347025.2_Intron	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	244						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TTATATCAGCGCTATCAGCAC	0.498																																																	0													98	94	96					3																	52456288		2203	4300	6503	SO:0001583	missense	0			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.731G>A	3.37:g.52456288G>A	ENSP00000333024:p.Arg244His		K4DI82	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_RING	p.R244H	ENST00000327906.3	37	c.731	CCDS2854.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.555323|3.555323	0.65425|0.65425	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000461861|ENST00000478707;ENST00000327906;ENST00000394916	.|T;T	.|0.10668	.|2.85;2.85	5.75|5.75	4.87|4.87	0.63330|0.63330	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.|0.183995	.|0.49916	.|D	.|0.000130	T|T	0.13586|0.13586	0.0329|0.0329	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D	.|0.58620	.|0.983	.|P	.|0.46339	.|0.513	T|T	0.01762|0.01762	-1.1279|-1.1279	5|10	.|0.24483	.|T	.|0.36	-14.6779|-14.6779	9.7093|9.7093	0.40236|0.40236	0.0917:0.0:0.9083:0.0|0.0917:0.0:0.9083:0.0	.|.	.|244	.|Q9BWX1	.|PHF7_HUMAN	T|H	204|244;244;153	.|ENSP00000419316:R244H;ENSP00000333024:R244H	.|ENSP00000333024:R244H	A|R	+|+	1|2	0|0	PHF7|PHF7	52431328|52431328	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.920000|2.920000	0.48844|0.48844	2.719000|2.719000	0.93026|0.93026	0.655000|0.655000	0.94253|0.94253	GCT|CGC	PHF7	-	superfamily_Znf_FYVE_PHD	ENSG00000010318		0.498	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF7	HGNC	protein_coding	OTTHUMT00000351155.1		0	45	0	G	NM_016483		52456288	1			no_errors	ENST00000327906	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	A	A	52456288	G	A	52456288	3	1	142	1	0	0	0	0	1	0	0	0	11878	1087	38	1	761	1	PHF7	3	52456288	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09		52456288	145566142	37	36045											
PTPRG	5793	genome.wustl.edu	37	chr3	62188912	62188912	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggtcttctacctggacGtcctctggcatcccattctc	4	13	9	15	2	4	0	0	0	4	0	8	1	6	1	3	4	1	1	3	4	1	3	rs544886184		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:62188912G>A	ENST00000474889.1	+	12	1820	c.1443G>A	c.(1441-1443)acG>acA	p.T481T	PTPRG_ENST00000295874.10_Silent_p.T481T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	481					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)		CTACCTGGACGTCCTCTGGCA	0.627																																																	0													94	102	99					3																	62188912		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1443G>A	3.37:g.62188912G>A			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.T481	ENST00000474889.1	37	c.1443	CCDS2895.1	3																																																																																			PTPRG	-	NULL	ENSG00000144724		0.627	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1		0	32	0	G	NM_002841		62188912	1			no_errors	ENST00000474889	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.991	A	A	62188912	G	A	62188912	2	1	142	1	0	0	0	0	0	0	0	1	12847	1132	40	1		1	PTPRG	3	62188912	Silent	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	9732624	62188912	135833518	38	36046											
ACPP	55	genome.wustl.edu	37	chr3	132071589	132071589	+	Missense_Mutation	SNP	A	A	G	1	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	cactactgtgagtggcctacAgatggcgctagatgtttaca	10	11	11	9	1	0	3	0	1	0	2	0	3	0	3	1	2	3	2	1	2	4	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:132071589A>G	ENST00000336375.5	+	9	980	c.890A>G	c.(889-891)cAg>cGg	p.Q297R	ACPP_ENST00000351273.7_Missense_Mutation_p.Q297R|ACPP_ENST00000475741.1_Missense_Mutation_p.Q264R	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	297					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						AGTGGCCTACAGATGGCGCTA	0.433																																																	0													154	139	144					3																	132071589		2203	4300	6503	SO:0001583	missense	0				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.890A>G	3.37:g.132071589A>G	ENSP00000337471:p.Gln297Arg		D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.Q297R	ENST00000336375.5	37	c.890	CCDS3073.1	3	.	.	.	.	.	.	.	.	.	.	A	17.68	3.448515	0.63178	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.28895	1.59;1.59;1.59	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000003	T	0.54919	0.1888	M	0.72118	2.19	0.46113	D	0.998872	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.57510	-0.7799	10	0.62326	D	0.03	.	14.1506	0.65381	1.0:0.0:0.0:0.0	.	297;297;264	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	R	297;264;297	ENSP00000337471:Q297R;ENSP00000417744:Q264R;ENSP00000323036:Q297R	ENSP00000337471:Q297R	Q	+	2	0	ACPP	133554279	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	5.574000	0.67424	2.227000	0.72691	0.456000	0.33151	CAG	ACPP	-	pfam_His_Pase_superF_clade-2	ENSG00000014257		0.433	ACPP-001	KNOWN	basic|CCDS	protein_coding	ACPP	HGNC	protein_coding	OTTHUMT00000356699.2		0	55	0	A	NM_001099		132071589	1			no_errors	ENST00000351273	ensembl	human	known	74_37	missense	53.85	12	14	SNP	1.000	G	G	132071589	A	G	132071589	3	3	142	1	0	0	0	0	1	0	0	0	167	188	7	4	924	4	ACPP	3	132071589	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	69882677	132071589	65950841	39	36047											
TRPC1	7220	genome.wustl.edu	37	chr3	142503559	142503559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcagtttgtctcccagtCtaactgccagcagttcctga	7	15	7	12	0	3	1	1	1	2	0	5	1	4	1	3	0	3	3	3	0	1	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:142503559C>T	ENST00000476941.1	+	7	1460	c.974C>T	c.(973-975)tCt>tTt	p.S325F	TRPC1_ENST00000273482.6_Missense_Mutation_p.S291F	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	325					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						GTCTCCCAGTCTAACTGCCAG	0.393																																																	0													88	79	82					3																	142503559		2203	4300	6503	SO:0001583	missense	0			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.974C>T	3.37:g.142503559C>T	ENSP00000419313:p.Ser325Phe		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.S325F	ENST00000476941.1	37	c.974	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705886	0.89018	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.63580	-0.05;-0.05	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.74703	0.3751	L	0.42245	1.32	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.71656	0.974;0.916	T	0.75808	-0.3187	10	0.87932	D	0	-15.5167	19.9576	0.97228	0.0:1.0:0.0:0.0	.	325;291	P48995;P48995-2	TRPC1_HUMAN;.	F	325;291	ENSP00000419313:S325F;ENSP00000273482:S291F	ENSP00000273482:S291F	S	+	2	0	TRPC1	143986249	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.452000	0.80683	2.706000	0.92434	0.591000	0.81541	TCT	TRPC1	-	tigrfam_TRP_channel	ENSG00000144935		0.393	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1		0	55	0	C	NM_003304		142503559	1			no_errors	ENST00000476941	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	T	T	142503559	C	T	142503559	3	4	142	1	0	0	0	0	1	0	0	0	16626	913	32	3	894	3	TRPC1	3	142503559	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	10431970	142503559	55518871	40	36048											
PLSCR5	389158	genome.wustl.edu	37	chr3	146309619	146309619	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggcagaaaggggtcccacTtctgcgtaacgtaaccaact	12	8	10	11	2	1	1	0	0	1	1	2	1	2	1	2	3	4	3	2	3	5	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:146309619T>G	ENST00000443512.1	-	5	1506	c.503A>C	c.(502-504)aAg>aCg	p.K168T	PLSCR5_ENST00000492200.1_Missense_Mutation_p.K168T|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Missense_Mutation_p.K156T	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	168										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						GGGGTCCCACTTCTGCGTAAC	0.363																																																	0													60	56	57					3																	146309619		1831	4094	5925	SO:0001583	missense	0			AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.503A>C	3.37:g.146309619T>G	ENSP00000390111:p.Lys168Thr		B2RXK5	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.K168T	ENST00000443512.1	37	c.503	CCDS46931.1	3	.	.	.	.	.	.	.	.	.	.	T	13.31	2.200114	0.38905	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.39406	1.08;1.08;1.08	5.66	3.2	0.36748	Tubby, C-terminal (1);	.	.	.	.	T	0.16171	0.0389	N	0.01817	-0.705	0.30214	N	0.797447	B;B	0.20459	0.004;0.045	B;B	0.28305	0.012;0.088	T	0.29882	-0.9997	9	0.06236	T	0.91	-14.3749	8.7092	0.34374	0.0:0.0676:0.1279:0.8045	.	156;168	B2RXK5;A0PG75	.;PLS5_HUMAN	T	168;156;168	ENSP00000417184:K168T;ENSP00000418626:K156T;ENSP00000390111:K168T	ENSP00000390111:K168T	K	-	2	0	PLSCR5	147792309	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.979000	0.70508	0.956000	0.37904	0.523000	0.50628	AAG	PLSCR5	-	pfam_Scramblase,superfamily_Tubby_C-like	ENSG00000231213		0.363	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLSCR5	HGNC	protein_coding	OTTHUMT00000355365.1		0	146	0	T	XM_371670		146309619	-1			no_errors	ENST00000443512	ensembl	human	known	74_37	missense	50.94	26	27	SNP	1.000	G	G	146309619	T	G	146309619	3	3	142	1	0	0	0	0	1	0	0	0	12152	1609	56	4	324	4	PLSCR5	3	146309619	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	3806060	146309619	51712811	41	36049											
IGSF10	285313	genome.wustl.edu	37	chr3	151156006	151156006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatagcaagtataatctcCttcctccgctaccccaactt	10	11	5	15	1	1	0	0	0	1	0	4	0	3	0	5	1	3	4	5	1	6	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:151156006C>G	ENST00000282466.3	-	6	6342	c.6343G>C	c.(6343-6345)Gga>Cga	p.G2115R	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	2115	Ig-like C2-type 7.				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)			GTATAATCTCCTTCCTCCGCT	0.448																																																	0													103	97	99					3																	151156006		2203	4300	6503	SO:0001583	missense	0			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.6343G>C	3.37:g.151156006C>G	ENSP00000282466:p.Gly2115Arg		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.G2115R	ENST00000282466.3	37	c.6343	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883202	0.72410	.	.	ENSG00000152580	ENST00000282466	T	0.60424	0.19	5.86	4.06	0.47325	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000246	D	0.84781	0.5548	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89043	0.3450	10	0.87932	D	0	.	12.6726	0.56876	0.0:0.8661:0.0:0.1339	.	2115;142	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	R	2115	ENSP00000282466:G2115R	ENSP00000282466:G2115R	G	-	1	0	IGSF10	152638696	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.645000	0.61404	0.813000	0.34350	0.655000	0.94253	GGA	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000152580		0.448	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1		0	63	0	C	NM_178822		151156006	-1			no_errors	ENST00000282466	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	G	G	151156006	C	G	151156006	3	3	142	1	0	0	0	0	1	0	0	0	7624	690	24	5	1532	5	IGSF10	3	151156006	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	4846387	151156006	46866424	42	36050											
BCHE	590	genome.wustl.edu	37	chr3	165547693	165547693	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaaccttcctgaaattCttttctagttatgatactat	11	20	3	7	0	2	2	0	2	2	0	3	2	3	2	2	0	2	1	2	0	7	10	rs534912670		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:165547693C>A	ENST00000264381.3	-	2	1295	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	377					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TCCTGAAATTCTTTTCTAGTT	0.373																																																	0													28	31	30					3																	165547693		2201	4290	6491	SO:0001587	stop_gained	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1129G>T	3.37:g.165547693C>A	ENSP00000264381:p.Glu377*		A8K7P8	Nonsense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.E377*	ENST00000264381.3	37	c.1129	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856797	0.91433	.	.	ENSG00000114200	ENST00000264381	.	.	.	5.55	3.7	0.42460	.	0.222920	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.1573	0.81676	0.0:0.4083:0.5917:0.0	.	.	.	.	X	377	.	ENSP00000264381:E377X	E	-	1	0	BCHE	167030387	0.070000	0.21116	0.594000	0.28785	0.472000	0.32918	0.539000	0.23175	0.641000	0.30601	0.655000	0.94253	GAA	BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.373	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1		0	60	0	C			165547693	-1			no_errors	ENST00000264381	ensembl	human	known	74_37	nonsense	29.41	24	10	SNP	0.588	A	A	165547693	C	A	165547693	4	1	142	1	0	0	0	0	0	1	0	0	1359	922	32	3	691	3	BCHE	3	165547693	Nonsense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	14391687	165547693	32474737	43	36051											
BCHE	590	genome.wustl.edu	37	chr3	165548550	165548550	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatgttctgacagcaagaaTttgcatattttgtggcattc	10	16	8	7	0	1	2	0	1	1	1	2	2	1	2	0	1	2	4	0	1	4	7			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:165548550T>G	ENST00000264381.3	-	2	438	c.272A>C	c.(271-273)aAt>aCt	p.N91T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	91					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ACAGCAAGAATTTGCATATTT	0.418																																																	0													101	104	103					3																	165548550		2203	4300	6503	SO:0001583	missense	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.272A>C	3.37:g.165548550T>G	ENSP00000264381:p.Asn91Thr		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.N91T	ENST00000264381.3	37	c.272	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	T	11.64	1.698251	0.30142	.	.	ENSG00000114200	ENST00000264381	T	0.68025	-0.3	5.67	4.49	0.54785	Carboxylesterase, type B (1);	0.044485	0.85682	D	0.000000	T	0.71013	0.3290	M	0.69523	2.12	0.80722	D	1	P	0.42908	0.793	P	0.47075	0.536	T	0.73173	-0.4066	10	0.87932	D	0	.	11.3815	0.49761	0.1357:0.0:0.0:0.8643	.	91	P06276	CHLE_HUMAN	T	91	ENSP00000264381:N91T	ENSP00000264381:N91T	N	-	2	0	BCHE	167031244	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	3.900000	0.56295	0.950000	0.37743	-0.336000	0.08194	AAT	BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.418	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1		0	73	0	T			165548550	-1			no_errors	ENST00000264381	ensembl	human	known	74_37	missense	35.90	25	14	SNP	1.000	G	G	165548550	T	G	165548550	3	3	142	1	0	0	0	0	1	0	0	0	1359	1493	52	4	1548	4	BCHE	3	165548550	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	857	165548550	32473880	44	36052											
NCAPG	64151	genome.wustl.edu	37	chr4	17839316	17839316	+	Silent	SNP	A	A	T																															acactggccaatgcccctgcAtcttctcctttagctgaaat																								rs543017291		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:17839316A>T	ENST00000251496.2	+	16	2534	c.2358A>T	c.(2356-2358)gcA>gcT	p.A786A		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	786					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)		ATGCCCCTGCATCTTCTCCTT	0.408																																																	0													169	167	168					4																	17839316		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2358A>T	4.37:g.17839316A>T			Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	superfamily_ARM-type_fold	p.A786	ENST00000251496.2	37	c.2358	CCDS3424.1	4																																																																																			NCAPG	-	superfamily_ARM-type_fold	ENSG00000109805		0.408	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1		0	53	0	A	NM_022346		17839316	1			no_errors	ENST00000251496	ensembl	human	known	74_37	silent	50.00	7	7	SNP	0.918	T	T	17839316	A	T	17839316	2	4	142	1	0	0	0	0	0	0	0	1	10246	204	8	5		5	NCAPG	4	17839316	Silent	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09		17839316	173314960	45	36053	131	2									
NCAPG	64151	genome.wustl.edu	37	chr4	17839318	17839318	+	Missense_Mutation	SNP	C	C	T																															actggccaatgcccctgcatCttctcctttagctgaaattg																										TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:17839318C>T	ENST00000251496.2	+	16	2536	c.2360C>T	c.(2359-2361)tCt>tTt	p.S787F		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	787					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)		GCCCCTGCATCTTCTCCTTTA	0.403																																																	0													169	167	168					4																	17839318		2203	4300	6503	SO:0001583	missense	0			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.2360C>T	4.37:g.17839318C>T	ENSP00000251496:p.Ser787Phe		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S787F	ENST00000251496.2	37	c.2360	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291723	0.80914	.	.	ENSG00000109805	ENST00000251496	T	0.44881	0.91	5.25	5.25	0.73442	Armadillo-type fold (1);	0.098536	0.64402	D	0.000002	T	0.61837	0.2379	M	0.68952	2.095	0.47037	D	0.999291	D	0.76494	0.999	D	0.71870	0.975	T	0.64334	-0.6432	10	0.72032	D	0.01	-13.7353	14.7709	0.69679	0.0:0.8558:0.1442:0.0	.	787	Q9BPX3	CND3_HUMAN	F	787	ENSP00000251496:S787F	ENSP00000251496:S787F	S	+	2	0	NCAPG	17448416	0.927000	0.31430	0.993000	0.49108	0.994000	0.84299	4.097000	0.57741	2.601000	0.87937	0.591000	0.81541	TCT	NCAPG	-	superfamily_ARM-type_fold	ENSG00000109805		0.403	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1		0	54	0	C	NM_022346		17839318	1			no_errors	ENST00000251496	ensembl	human	known	74_37	missense	50.00	7	7	SNP	1.000	T	T	17839318	C	T	17839318	3	4	142	1	0	0	0	0	1	0	0	0	10246	913	32	3	2422	3	NCAPG	4	17839318	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	2	17839318	173314958	46	36054	131	2									
GK2	2712	genome.wustl.edu	37	chr4	80329320	80329320	+	Missense_Mutation	SNP	A	A	G	1	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	cctggaccaccgctcccaccAacggccccacagctgctgtc	7	5	8	21	2	0	0	0	0	0	0	2	1	1	1	7	2	3	3	7	2	1	0			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:80329320A>G	ENST00000358842.3	-	1	52	c.35T>C	c.(34-36)tTg>tCg	p.L12S		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						CGCTCCCACCAACGGCCCCAC	0.567																																																	0													35	35	35					4																	80329320		2203	4300	6503	SO:0001583	missense	0			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.35T>C	4.37:g.80329320A>G	ENSP00000351706:p.Leu12Ser		Q7Z4Q4	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.L12S	ENST00000358842.3	37	c.35	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	A	13.72	2.320546	0.41096	.	.	ENSG00000196475	ENST00000358842	T	0.17691	2.26	3.74	3.74	0.42951	.	0.083603	0.49305	D	0.000141	T	0.37812	0.1017	M	0.77406	2.37	0.50467	D	0.999873	D	0.59357	0.985	D	0.63113	0.911	T	0.29912	-0.9996	10	0.87932	D	0	-14.1563	11.0599	0.47942	1.0:0.0:0.0:0.0	.	12	Q14410	GLPK2_HUMAN	S	12	ENSP00000351706:L12S	ENSP00000351706:L12S	L	-	2	0	GK2	80548344	1.000000	0.71417	0.994000	0.49952	0.644000	0.38419	4.860000	0.62961	1.936000	0.56123	0.377000	0.23210	TTG	GK2	-	tigrfam_Glycerol_kin	ENSG00000196475		0.567	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2		0	49	0	A	NM_033214		80329320	-1			no_errors	ENST00000358842	ensembl	human	known	74_37	missense	75.00	6	18	SNP	1.000	G	G	80329320	A	G	80329320	3	3	142	1	0	0	0	0	1	0	0	0	6447	131	5	4	1630	4	GK2	4	80329320	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	62490002	80329320	110824956	47	36055											
THAP9	79725	genome.wustl.edu	37	chr4	83838327	83838327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgccacttgcttcagaaaCtgttttgttaatggcagtgg	10	13	10	8	1	1	1	1	0	0	1	1	1	1	1	1	2	3	4	1	2	3	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:83838327C>T	ENST00000302236.5	+	5	1013	c.962C>T	c.(961-963)aCt>aTt	p.T321I	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	321					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)				GCTTCAGAAACTGTTTTGTTA	0.433																																																	0													135	127	129					4																	83838327		2203	4300	6503	SO:0001583	missense	0			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.962C>T	4.37:g.83838327C>T	ENSP00000305533:p.Thr321Ile		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.T321I	ENST00000302236.5	37	c.962	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254900	0.22965	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.35973	1.28	3.7	3.7	0.42460	.	0.194047	0.25575	N	0.029732	T	0.23210	0.0561	L	0.36672	1.1	0.80722	D	1	P	0.39809	0.689	B	0.34093	0.175	T	0.02567	-1.1140	10	0.27082	T	0.32	-10.5834	9.4603	0.38781	0.0:0.8951:0.0:0.1049	.	321	Q9H5L6	THAP9_HUMAN	I	321	ENSP00000305533:T321I	ENSP00000305533:T321I	T	+	2	0	THAP9	84057351	0.885000	0.30320	0.913000	0.36048	0.001000	0.01503	1.567000	0.36407	2.367000	0.80283	0.650000	0.86243	ACT	THAP9	-	NULL	ENSG00000168152		0.433	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1		0	72	0	C	NM_024672		83838327	1			no_errors	ENST00000302236	ensembl	human	known	74_37	missense	43.48	26	20	SNP	0.927	T	T	83838327	C	T	83838327	3	4	142	1	0	0	0	0	1	0	0	0	15898	565	20	3	980	3	THAP9	4	83838327	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	3509007	83838327	107315949	48	36056											
MAPK10	5602	genome.wustl.edu	37	chr4	86938393	86938393	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcggctagtcacctgcaacaAcccaggggtcctgccgaggc	8	5	13	15	2	1	0	1	0	0	0	2	1	2	0	4	4	4	2	4	4	3	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:86938393A>T	ENST00000359221.3	-	14	1909	c.1383T>A	c.(1381-1383)ggT>ggA	p.G461G	MAPK10_ENST00000395160.3_3'UTR|MAPK10_ENST00000395169.3_Silent_p.G423G|MAPK10_ENST00000395157.3_Silent_p.G316G|MAPK10_ENST00000395166.1_Silent_p.G423G|MAPK10_ENST00000361569.2_3'UTR|MAPK10_ENST00000449047.2_Silent_p.G316G			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	461					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ACCTGCAACAACCCAGGGGTC	0.567																																																	0													88	91	90					4																	86938393		2203	4300	6503	SO:0001819	synonymous_variant	0			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1383T>A	4.37:g.86938393A>T			A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom	p.G461	ENST00000359221.3	37	c.1383	CCDS34026.1	4																																																																																			MAPK10	-	NULL	ENSG00000109339		0.567	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	HGNC	protein_coding	OTTHUMT00000361363.2		0	62	0	A			86938393	-1			no_errors	ENST00000359221	ensembl	human	known	74_37	silent	37.04	17	10	SNP	1.000	T	T	86938393	A	T	86938393	2	4	142	1	0	0	0	0	0	0	0	1	9310	30	2	5		5	MAPK10	4	86938393	Silent	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	3100066	86938393	104215883	49	36057											
PITX2	5308	genome.wustl.edu	37	chr4	111543490	111543490	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagtccagcgaccggggctGaccgggagccagaaccgaag	10	2	17	12	4	0	2	0	1	0	1	1	6	1	4	5	4	3	1	5	4	2	0			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:111543490G>A	ENST00000354925.2	-	6	1890				PITX2_ENST00000355080.5_Intron|PITX2_ENST00000306732.3_Nonsense_Mutation_p.Q43*|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394598.2_Intron|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000557119.2_Nonsense_Mutation_p.Q43*	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2						atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GACCGGGGCTGACCGGGAGCC	0.682																																																	0													23	24	24					4																	111543490		2199	4299	6498	SO:0001627	intron_variant	0			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.185-965C>T	4.37:g.111543490G>A			A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Nonsense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom	p.Q43*	ENST00000354925.2	37	c.127	CCDS3692.1	4	.	.	.	.	.	.	.	.	.	.	G	43	10.316386	0.99381	.	.	ENSG00000164093	ENST00000306732	.	.	.	5.01	5.01	0.66863	.	0.382752	0.27846	N	0.017620	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	17.9142	0.88944	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000304169:Q43X	Q	-	1	0	PITX2	111762939	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.807000	0.91935	2.318000	0.78349	0.655000	0.94253	CAG	PITX2	-	pirsf_Homeobox_Pitx/unc30	ENSG00000164093		0.682	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2		0	89	0	G			111543490	-1			no_errors	ENST00000306732	ensembl	human	known	74_37	nonsense	39.02	25	16	SNP	1.000	A	A	111543490	G	A	111543490	1	1	142	0	1	0	0	0	0	0	0	0	11994	1299	45	3		3	PITX2	4	111543490	Intron	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	24605097	111543490	79610786	50	36058											
EDNRA	1909	genome.wustl.edu	37	chr4	148453698	148453698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcgtgttcagggaattGggattcctttggtaactgcc	7	13	14	7	1	1	0	1	0	0	0	3	3	2	3	2	4	2	2	2	4	2	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:148453698G>T	ENST00000324300.5	+	4	1104	c.589G>T	c.(589-591)Ggg>Tgg	p.G197W	EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000339690.5_Missense_Mutation_p.W154L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	197					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TCAGGGAATTGGGATTCCTTT	0.423																																																	0													177	163	168					4																	148453698		2203	4300	6503	SO:0001583	missense	0			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.589G>T	4.37:g.148453698G>T	ENSP00000315011:p.Gly197Trp		B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn	p.G197W	ENST00000324300.5	37	c.589	CCDS3769.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.747665|4.747665	0.89663|0.89663	.|.	.|.	ENSG00000151617|ENSG00000151617	ENST00000324300|ENST00000339690	T|D	0.37235|0.83914	1.21|-1.78	5.55|5.55	5.55|5.55	0.83447|0.83447	GPCR, rhodopsin-like superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88537|0.88537	0.6463|0.6463	H|H	0.94385|0.94385	3.53|3.53	0.43667|0.43667	D|D	0.996093|0.996093	D|B	0.67145|0.24043	0.996|0.096	D|B	0.68039|0.23852	0.955|0.049	D|D	0.86437|0.86437	0.1764|0.1764	10|9	0.87932|0.33141	D|T	0|0.24	-14.786|-14.786	19.4992|19.4992	0.95086|0.95086	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	197|154	P25101|P25101-2	EDNRA_HUMAN|.	W|L	197|154	ENSP00000315011:G197W|ENSP00000341556:W154L	ENSP00000315011:G197W|ENSP00000341556:W154L	G|W	+|+	1|2	0|0	EDNRA|EDNRA	148673148|148673148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.471000|9.471000	0.97696|0.97696	2.604000|2.604000	0.88044|0.88044	0.557000|0.557000	0.71058|0.71058	GGG|TGG	EDNRA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt	ENSG00000151617		0.423	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1		0	56	0	G			148453698	1			no_errors	ENST00000324300	ensembl	human	known	74_37	missense	66.67	7	14	SNP	1.000	T	T	148453698	G	T	148453698	3	4	142	1	0	0	0	0	1	0	0	0	4933	1348	47	3	599	3	EDNRA	4	148453698	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	36910208	148453698	42700578	51	36059											
FBXW7	55294	genome.wustl.edu	37	chr4	153247195	153247195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattagtatgcccctgcaacGtgtgtagacaggtttcagtc	9	13	10	9	1	1	1	1	0	0	1	2	1	1	1	2	1	3	4	2	1	5	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:153247195G>C	ENST00000281708.4	-	10	2836	c.1607C>G	c.(1606-1608)aCg>aGg	p.T536R	FBXW7_ENST00000603548.1_Missense_Mutation_p.T536R|FBXW7_ENST00000263981.5_Missense_Mutation_p.T456R|FBXW7_ENST00000393956.3_Missense_Mutation_p.T360R|FBXW7_ENST00000296555.5_Missense_Mutation_p.T418R|FBXW7_ENST00000603841.1_Missense_Mutation_p.T536R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	536					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCCCTGCAACGTGTGTAGACA	0.423			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											183	178	180					4																	153247195		2203	4300	6503	SO:0001583	missense	0			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.1607C>G	4.37:g.153247195G>C	ENSP00000281708:p.Thr536Arg		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T536R	ENST00000281708.4	37	c.1607	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180385	0.78677	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	L	0.46819	1.47	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	T	0.75326	-0.3357	10	0.59425	D	0.04	-9.7839	20.2406	0.98372	0.0:0.0:1.0:0.0	.	360;536;418;456	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	R	536;418;456;360	ENSP00000281708:T536R;ENSP00000296555:T418R;ENSP00000263981:T456R;ENSP00000377528:T360R	ENSP00000263981:T456R	T	-	2	0	FBXW7	153466645	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.857000	0.98124	0.650000	0.86243	ACG	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109670		0.423	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1		0	71	0	G			153247195	-1			no_errors	ENST00000281708	ensembl	human	known	74_37	missense	43.59	22	17	SNP	1.000	C	C	153247195	G	C	153247195	3	2	142	1	0	0	0	0	1	0	0	0	5791	1145	40	5	528	5	FBXW7	4	153247195	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	4793497	153247195	37907081	52	36060											
WDR17	116966	genome.wustl.edu	37	chr4	177098797	177098797	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttgtcttacgggattaAaaatccaggtaaagcctaac	13	13	7	8	1	2	0	0	0	2	0	3	1	3	1	2	2	3	1	2	2	7	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:177098797A>T	ENST00000280190.4	+	30	3997	c.3841A>T	c.(3841-3843)Aaa>Taa	p.K1281*	WDR17_ENST00000507824.2_Nonsense_Mutation_p.K1256*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.K1242*|WDR17_ENST00000393643.2_Nonsense_Mutation_p.K1257*			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1281										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)		TACGGGATTAAAAATCCAGGT	0.308																																																	0													54	56	55					4																	177098797		2203	4298	6501	SO:0001587	stop_gained	0			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.3841A>T	4.37:g.177098797A>T	ENSP00000280190:p.Lys1281*		E7EQX0|Q0QD35	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K1281*	ENST00000280190.4	37	c.3841	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	42|42	9.566948|9.566948	0.99207|0.99207	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|.	.|.	.|.	5.96|5.96	4.72|4.72	0.59763|0.59763	.|.	0.053132|0.053132	0.64402|0.64402	D|D	0.000001|0.000001	T|.	0.33352|.	0.0860|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17899|.	-1.0354|.	5|.	.|0.02654	.|T	.|1	-30.5397|-30.5397	11.8315|11.8315	0.52299|0.52299	0.7322:0.2678:0.0:0.0|0.7322:0.2678:0.0:0.0	.|.	.|.	.|.	.|.	I|X	515|1242;1257;1281;1257	.|.	.|ENSP00000280190:K1281X	K|K	+|+	2|1	0|0	WDR17|WDR17	177335791|177335791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.853000|3.853000	0.55941|0.55941	2.284000|2.284000	0.76573|0.76573	0.528000|0.528000	0.53228|0.53228	AAA|AAA	WDR17	-	NULL	ENSG00000150627		0.308	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2		0	66	0	A			177098797	1			no_errors	ENST00000280190	ensembl	human	known	74_37	nonsense	33.33	16	8	SNP	1.000	T	T	177098797	A	T	177098797	4	4	142	1	0	0	0	0	0	1	0	0	17326	15	1	5	3955	5	WDR17	4	177098797	Nonsense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	23851602	177098797	14055479	53	36061											
IRX1	79192	genome.wustl.edu	37	chr5	3599410	3599410	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcccacacggcgccggcTtattacccctacggccagtt	7	7	10	17	4	0	0	0	0	0	0	0	0	0	0	5	3	3	3	5	3	3	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:3599410T>G	ENST00000302006.3	+	2	400	c.348T>G	c.(346-348)gcT>gcG	p.A116A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	116					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGGCGCCGGCTTATTACCCCT	0.657																																																	0													41	46	44					5																	3599410		2203	4299	6502	SO:0001819	synonymous_variant	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.348T>G	5.37:g.3599410T>G			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.A116	ENST00000302006.3	37	c.348	CCDS34132.1	5																																																																																			IRX1	-	superfamily_Homeodomain-like	ENSG00000170549		0.657	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1		0	30	0	T	NM_024337		3599410	1			no_errors	ENST00000302006	ensembl	human	known	74_37	silent	30.77	18	8	SNP	1.000	G	G	3599410	T	G	3599410	2	3	142	1	0	0	0	0	0	0	0	1	7870	1596	56	4		4	IRX1	5	3599410	Silent	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09		3599410	177315850	54	36062											
PPAP2A	8611	genome.wustl.edu	37	chr5	54721117	54721117	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcctcctcttttctttCtttaaaagaagttctttctt	8	20	4	9	0	5	2	0	0	5	2	7	2	7	2	2	0	0	1	2	0	3	8			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:54721117C>A	ENST00000307259.8	-	6	1192	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	SKIV2L2_ENST00000230640.5_3'UTR|PPAP2A_ENST00000264775.5_Nonsense_Mutation_p.E259*	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	258					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TCTTTTCTTTCTTTAAAAGAA	0.378																																																	0													126	118	121					5																	54721117		2203	4300	6503	SO:0001587	stop_gained	0			AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.772G>T	5.37:g.54721117C>A	ENSP00000302229:p.Glu258*		B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Nonsense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.E259*	ENST00000307259.8	37	c.775	CCDS34159.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.739159	0.96873	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	.	.	.	5.66	4.78	0.61160	.	0.553787	0.18768	N	0.131685	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-21.0036	12.7595	0.57356	0.0:0.6175:0.3825:0.0	.	.	.	.	X	259;258	.	ENSP00000264775:E259X	E	-	1	0	PPAP2A	54756874	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.362000	0.59467	2.657000	0.90304	0.655000	0.94253	GAA	PPAP2A	-	superfamily_P_Acid_Pase_2/haloperoxidase	ENSG00000067113		0.378	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2A	HGNC	protein_coding	OTTHUMT00000368073.1		0	55	0	C			54721117	-1			no_errors	ENST00000264775	ensembl	human	known	74_37	nonsense	9.52	19	2	SNP	1.000	A	A	54721117	C	A	54721117	4	1	142	1	0	0	0	0	0	1	0	0	12329	922	32	3	86	3	PPAP2A	5	54721117	Nonsense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	51121707	54721117	126194143	55	36063											
BDP1	55814	genome.wustl.edu	37	chr5	70818198	70818198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaagccaaatttgggaagaGcacacagtaagaaagaggaa	19	5	11	6	0	0	3	0	0	0	3	0	5	0	5	1	2	2	2	1	2	6	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:70818198G>A	ENST00000358731.4	+	23	5337	c.5074G>A	c.(5074-5076)Gca>Aca	p.A1692T	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	1692					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)		TTTGGGAAGAGCACACAGTAA	0.393																																																	0													151	151	151					5																	70818198		1858	4097	5955	SO:0001583	missense	0			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.5074G>A	5.37:g.70818198G>A	ENSP00000351575:p.Ala1692Thr		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.A1692T	ENST00000358731.4	37	c.5074	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899929	0.72754	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.21543	2.0	5.21	4.34	0.51931	.	0.122511	0.37178	N	0.002209	T	0.35941	0.0949	L	0.59436	1.845	0.80722	D	1	P;D	0.69078	0.94;0.997	P;D	0.66196	0.534;0.942	T	0.10800	-1.0614	10	0.66056	D	0.02	.	6.9023	0.24288	0.0898:0.0:0.7383:0.1719	.	1692;1692	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	T	1692;1272	ENSP00000351575:A1692T	ENSP00000351575:A1692T	A	+	1	0	BDP1	70853954	0.293000	0.24371	0.987000	0.45799	0.783000	0.44284	1.235000	0.32671	1.184000	0.42957	0.555000	0.69702	GCA	BDP1	-	NULL	ENSG00000145734		0.393	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2		0	40	0	G	NM_018429		70818198	1			no_errors	ENST00000358731	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.903	A	A	70818198	G	A	70818198	3	1	142	1	0	0	0	0	1	0	0	0	1396	971	34	3	5164	3	BDP1	5	70818198	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	16097081	70818198	110097062	56	36064											
PCDHA7	56141	genome.wustl.edu	37	chr5	140214096	140214096	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaggaggctaaacatggcaActtcgtgggccgcatcgcgc	9	6	14	12	5	0	0	0	0	0	0	2	2	0	1	1	4	2	3	1	4	3	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:140214096A>C	ENST00000525929.1	+	1	128	c.128A>C	c.(127-129)aAc>aCc	p.N43T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.N43T|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	43	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)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACATGGCAACTTCGTGGGC	0.622																																					NSCLC(160;258 2013 5070 22440 28951)												0													58	72	67					5																	140214096		2203	4299	6502	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.128A>C	5.37:g.140214096A>C	ENSP00000436426:p.Asn43Thr		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N43T	ENST00000525929.1	37	c.128	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	1.925	-0.447441	0.04572	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.31247	1.5;1.5	4.02	3.15	0.36227	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.02888	0.0086	N	0.00000	-3.92	0.25701	N	0.98558	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33574	-0.9863	9	0.02654	T	1	.	13.4185	0.60982	0.1588:0.8412:0.0:0.0	.	43;43	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	43	ENSP00000436426:N43T;ENSP00000367365:N43T	ENSP00000367365:N43T	N	+	2	0	PCDHA7	140194280	0.011000	0.17503	1.000000	0.80357	0.834000	0.47266	2.608000	0.46308	0.809000	0.34255	-0.405000	0.06341	AAC	PCDHA7	-	pfam_Cadherin_N,superfamily_Cadherin-like	ENSG00000204963		0.622	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2		0	112	0	A	NM_018910		140214096	1			no_errors	ENST00000525929	ensembl	human	known	74_37	missense	19.72	56	14	SNP	1.000	C	C	140214096	A	C	140214096	3	2	142	1	0	0	0	0	1	0	0	0	11568	43	2	4	130	4	PCDHA7	5	140214096	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	69395898	140214096	40701164	57	36065											
PCDHB12	56124	genome.wustl.edu	37	chr5	140590121	140590121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagcgaggcgctggtgCgcgtgctggtgctggacgcc	4	7	19	11	5	0	1	0	1	0	0	0	3	0	2	1	4	5	4	1	4	0	0			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:140590121C>T	ENST00000239450.2	+	1	1831	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R211C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	548	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(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.706																																																	0													31	36	34					5																	140590121		2201	4296	6497	SO:0001583	missense	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1642C>T	5.37:g.140590121C>T	ENSP00000239450:p.Arg548Cys		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R548C	ENST00000239450.2	37	c.1642	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336340	0.60963	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01767	4.65;4.65	3.41	2.5	0.30297	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.10035	0.0246	M	0.84948	2.725	0.36704	D	0.880266	D	0.89917	1.0	D	0.85130	0.997	T	0.02087	-1.1216	9	0.87932	D	0	.	9.945	0.41602	0.3687:0.6313:0.0:0.0	.	548	Q9Y5F1	PCDBC_HUMAN	C	211;548;168	ENSP00000440199:R211C;ENSP00000239450:R548C	ENSP00000239450:R548C	R	+	1	0	PCDHB12	140570305	0.000000	0.05858	0.796000	0.32109	0.995000	0.86356	0.601000	0.24119	0.523000	0.28482	0.485000	0.47835	CGC	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120328		0.706	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2		0	163	0	C	NM_018932		140590121	1			no_errors	ENST00000239450	ensembl	human	known	74_37	missense	40.38	62	42	SNP	0.752	T	T	140590121	C	T	140590121	3	4	142	1	0	0	0	0	1	0	0	0	11576	768	27	1	1644	1	PCDHB12	5	140590121	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	376025	140590121	40325139	58	36066											
TIGD6	81789	genome.wustl.edu	37	chr5	149375789	149375789	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgtagataaagtagaGggagtgataccaaattcttt	17	11	10	3	0	1	4	0	1	1	3	1	5	1	5	1	1	1	2	1	1	8	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:149375789G>T	ENST00000296736.3	-	2	897	c.123C>A	c.(121-123)ccC>ccA	p.P41P	TIGD6_ENST00000515406.2_Silent_p.P41P	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	41	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)			ATAAAGTAGAGGGAGTGATAC	0.483																																																	0													60	65	63					5																	149375789		2203	4300	6503	SO:0001819	synonymous_variant	0			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.123C>A	5.37:g.149375789G>T			B3KTZ8|Q96MQ4|Q9H0X7	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.P41	ENST00000296736.3	37	c.123	CCDS4301.1	5																																																																																			TIGD6	-	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	ENSG00000164296		0.483	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD6	HGNC	protein_coding	OTTHUMT00000252324.1		0	56	0	G	NM_030953		149375789	-1			no_errors	ENST00000296736	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.948	T	T	149375789	G	T	149375789	2	4	142	1	0	0	0	0	0	0	0	1	15947	987	35	3		3	TIGD6	5	149375789	Silent	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	8785668	149375789	31539471	59	36067											
HAVCR1	26762	genome.wustl.edu	37	chr5	156476082	156476082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtacaatggtgagctggtggGttctctccttattgctccct	5	15	11	10	0	1	1	0	1	1	0	4	1	3	1	2	3	3	4	2	3	3	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:156476082G>A	ENST00000339252.3	-	4	1280	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	HAVCR1_ENST00000544197.1_Missense_Mutation_p.P250S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P250S|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P250S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P250S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	245					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)			GAGCTGGTGGGTTCTCTCCTT	0.463																																																	0													245	242	243					5																	156476082		2043	4185	6228	SO:0001583	missense	0			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.748C>T	5.37:g.156476082G>A	ENSP00000344844:p.Pro250Ser		O43656	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.P250S	ENST00000339252.3	37	c.748	CCDS43392.1	5	.	.	.	.	.	.	.	.	.	.	G	5.527	0.282097	0.10458	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197	T;T;T;T;T	0.16324	2.35;2.46;2.46;2.35;2.46	3.11	-1.19	0.09585	.	.	.	.	.	T	0.07007	0.0178	N	0.14661	0.345	0.09310	N	1	B;B;B	0.34290	0.447;0.447;0.447	B;B;B	0.29440	0.102;0.102;0.102	T	0.26883	-1.0090	9	0.51188	T	0.08	-2.6661	1.2902	0.02059	0.1256:0.1876:0.305:0.3819	.	250;245;245	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	S	250	ENSP00000428524:P250S;ENSP00000427898:P250S;ENSP00000344844:P250S;ENSP00000403333:P250S;ENSP00000440258:P250S	ENSP00000344844:P250S	P	-	1	0	HAVCR1	156408660	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.182000	0.09726	-0.293000	0.08986	-1.113000	0.02065	CCC	HAVCR1	-	NULL	ENSG00000113249		0.463	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR1	HGNC	protein_coding	OTTHUMT00000373698.1		0	87	0	G			156476082	-1			no_errors	ENST00000425854	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.000	A	A	156476082	G	A	156476082	3	1	142	1	0	0	0	0	1	0	0	0	7000	1261	44	3	366	3	HAVCR1	5	156476082	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	7100293	156476082	24439178	60	36068											
CCDC99	54908	genome.wustl.edu	37	chr5	169015490	169015490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagagcgactaaaagctGcacagtatggtttacaacta	17	8	9	7	1	0	2	0	0	0	2	0	3	0	2	0	1	5	4	0	1	8	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:169015490G>A	ENST00000265295.4	+	2	349	c.70G>A	c.(70-72)Gca>Aca	p.A24T	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		ACTAAAAGCTGCACAGTATGG	0.373																																																	0													98	94	95					5																	169015490		2203	4300	6503	SO:0001583	missense	0			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.70G>A	5.37:g.169015490G>A	ENSP00000265295:p.Ala24Thr			Missense_Mutation	SNP	NULL	p.A24T	ENST00000265295.4	37	c.70	CCDS4370.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.232943	0.95207	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	T	0.62941	-0.01	5.51	5.51	0.81932	.	0.052186	0.85682	D	0.000000	T	0.79528	0.4461	M	0.70275	2.135	0.52501	D	0.999953	D	0.89917	1.0	D	0.77004	0.989	T	0.79588	-0.1741	10	0.56958	D	0.05	-17.6645	19.7654	0.96337	0.0:0.0:1.0:0.0	.	24	Q96EA4	SPDLY_HUMAN	T	24	ENSP00000265295:A24T	ENSP00000265295:A24T	A	+	1	0	CCDC99	168948068	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.937000	0.87672	2.750000	0.94351	0.655000	0.94253	GCA	SPDL1	-	NULL	ENSG00000040275		0.373	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2		0	32	0	G	NM_017785		169015490	1			no_errors	ENST00000265295	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	A	A	169015490	G	A	169015490	3	1	142	1	0	0	0	0	1	0	0	0	2883	1319	46	3	72	3	CCDC99	5	169015490	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	12539408	169015490	11899770	61	36069											
DOCK2	1794	genome.wustl.edu	37	chr5	169108760	169108760	+	Silent	SNP	T	T	C	0	1	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	ctttacagaatccttgagctTgatttgattgtcagagatga	11	15	9	6	0	1	6	1	4	0	2	2	7	2	6	1	0	2	1	1	0	2	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:169108760T>C	ENST00000256935.8	+	7	563	c.483T>C	c.(481-483)ctT>ctC	p.L161L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	161					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)			TCCTTGAGCTTGATTTGATTG	0.408																																																	0													150	143	146					5																	169108760		2203	4300	6503	SO:0001819	synonymous_variant	0			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.483T>C	5.37:g.169108760T>C			Q2M3I0|Q96AK7	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.L161	ENST00000256935.8	37	c.483	CCDS4371.1	5																																																																																			DOCK2	-	NULL	ENSG00000134516		0.408	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2		0	70	0	T	NM_004946		169108760	1			no_errors	ENST00000256935	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.029	C	C	169108760	T	C	169108760	2	2	142	1	0	0	0	0	0	0	0	1	4701	1799	63	4		4	DOCK2	5	169108760	Silent	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	93270	169108760	11806500	62	36070											
TRIM27	5987	genome.wustl.edu	37	chr6	28891220	28891220	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gtgccggttgggccgcatgtGcctctgcgggaaggtctccc	3	9	16	13	3	2	0	0	0	2	0	3	1	2	1	4	4	3	2	4	4	1	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:28891220G>A	ENST00000377199.3	-	1	546	c.190C>T	c.(190-192)Cac>Tac	p.H64Y	TRIM27_ENST00000377194.3_Missense_Mutation_p.H64Y|TRIM27_ENST00000498117.1_5'Flank	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	64					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGCCGCATGTGCCTCTGCGGG	0.697			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0													25	23	23					6																	28891220		2201	4297	6498	SO:0001583	missense	0			Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.190C>T	6.37:g.28891220G>A	ENSP00000366404:p.His64Tyr		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.H64Y	ENST00000377199.3	37	c.190	CCDS4654.1	6	.	.	.	.	.	.	.	.	.	.	G	17.36	3.371178	0.61624	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	D;D	0.83837	-1.77;-1.77	4.48	4.48	0.54585	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.49305	D	0.000155	T	0.57460	0.2055	N	0.08118	0	0.35298	D	0.782775	P;B;P	0.49185	0.92;0.438;0.898	B;B;B	0.40901	0.343;0.138;0.253	T	0.71174	-0.4670	10	0.72032	D	0.01	.	13.3601	0.60650	0.0:0.0:1.0:0.0	.	131;64;64	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	Y	64	ENSP00000366404:H64Y;ENSP00000366399:H64Y	ENSP00000366399:H64Y	H	-	1	0	TRIM27	28999199	0.000000	0.05858	1.000000	0.80357	0.956000	0.61745	-0.244000	0.08903	2.423000	0.82170	0.555000	0.69702	CAC	TRIM27	-	NULL	ENSG00000204713		0.697	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2		0	16	0	G	NM_030950		28891220	-1			no_errors	ENST00000377199	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	A	A	28891220	G	A	28891220	3	1	142	1	0	0	0	0	1	0	0	0	16549	1319	46	3	1383	3	TRIM27	6	28891220	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09		28891220	142223847	63	36071											
NOTCH4	4855	genome.wustl.edu	37	chr6	32168965	32168965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctctctcctgataggtgggGtcccgagttcctcctagctt	4	13	11	13	1	1	1	0	1	1	0	6	2	5	1	4	3	1	3	4	3	2	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:32168965G>T	ENST00000375023.3	-	22	4206	c.4068C>A	c.(4066-4068)gaC>gaA	p.D1356E		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1356					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						GATAGGTGGGGTCCCGAGTTC	0.607																																																	0													63	72	69					6																	32168965		1507	2709	4216	SO:0001583	missense	0				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.4068C>A	6.37:g.32168965G>T	ENSP00000364163:p.Asp1356Glu		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.D1356E	ENST00000375023.3	37	c.4068	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	1.992	-0.431565	0.04669	.	.	ENSG00000204301	ENST00000375023	T	0.81078	-1.45	4.37	1.46	0.22682	.	0.560185	0.14707	N	0.303209	T	0.34106	0.0886	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.18840	-1.0324	10	0.08381	T	0.77	.	1.1518	0.01787	0.2077:0.1752:0.4376:0.1795	.	1356;1355	Q99466;B0S882	NOTC4_HUMAN;.	E	1356	ENSP00000364163:D1356E	ENSP00000364163:D1356E	D	-	3	2	NOTCH4	32276943	0.002000	0.14202	0.003000	0.11579	0.552000	0.35366	-0.216000	0.09266	0.106000	0.17784	0.456000	0.33151	GAC	NOTCH4	-	pirsf_Notch,prints_Notch_4	ENSG00000204301		0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2		0	44	0	G			32168965	-1			no_errors	ENST00000375023	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.000	T	T	32168965	G	T	32168965	3	4	142	1	0	0	0	0	1	0	0	0	10590	1252	44	3	1979	3	NOTCH4	6	32168965	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	3277745	32168965	138946102	64	36072											
WDR46	9277	genome.wustl.edu	37	chr6	33255470	33255470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagggcagccacatgacCtcggcgccctccaaaagcca	12	4	9	16	2	1	1	1	1	0	0	3	1	2	1	5	2	2	1	5	2	3	0			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:33255470C>A	ENST00000374617.4	-	7	1005	c.649G>T	c.(649-651)Ggt>Tgt	p.G217C	PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000395131.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	217							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GCCACATGACCTCGGCGCCCT	0.597																																																	0													65	61	63					6																	33255470		2203	4300	6503	SO:0001583	missense	0			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"WD repeat domain containing"	13923	protein-coding gene	gene with protein product		611440	"chromosome 6 open reading frame 11"	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.649G>T	6.37:g.33255470C>A	ENSP00000363746:p.Gly217Cys		A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G217C	ENST00000374617.4	37	c.649	CCDS4772.1	6	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477639	0.84640	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.26518	4.35;1.73	4.56	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67795	-0.5578	10	0.87932	D	0	-13.7893	14.8987	0.70661	0.0:1.0:0.0:0.0	.	163;217	B4DP15;O15213	.;WDR46_HUMAN	C	217;144	ENSP00000363746:G217C;ENSP00000405568:G144C	ENSP00000363746:G217C	G	-	1	0	WDR46	33363448	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.325000	0.72901	2.366000	0.80165	0.549000	0.68633	GGT	WDR46	-	superfamily_WD40_repeat_dom	ENSG00000227057		0.597	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR46	HGNC	protein_coding	OTTHUMT00000076382.2		0	39	0	C	NM_005452		33255470	-1			no_errors	ENST00000374617	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	A	A	33255470	C	A	33255470	3	1	142	1	0	0	0	0	1	0	0	0	17348	681	24	3	1219	3	WDR46	6	33255470	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	1086505	33255470	137859597	65	36073											
CPNE5	57699	genome.wustl.edu	37	chr6	36790834	36790834	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtcagagcaggacttacGtgggtcggacttggaaaaca	12	9	13	7	2	1	1	1	0	0	1	2	4	1	4	0	4	3	1	0	4	3	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:36790834G>A	ENST00000244751.2	-	2	760	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	46	C2 1. {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						CAGGACTTACGTGGGTCGGAC	0.532																																																	0													149	133	139					6																	36790834		2203	4300	6503	SO:0001630	splice_region_variant	0			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.136+1C>T	6.37:g.36790834G>A			Q7Z6C8	Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.L46	ENST00000244751.2	37	c.136	CCDS4825.1	6																																																																																			CPNE5	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000124772		0.532	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE5	HGNC	protein_coding	OTTHUMT00000040351.1		0	72	0	G	NM_020939	Silent	36790834	-1			no_errors	ENST00000244751	ensembl	human	known	74_37	silent	33.93	37	19	SNP	0.988	A	A	36790834	G	A	36790834	5	1	142	1	0	0	0	0	0	0	1	0	3822	1159	40	1	1725	1	CPNE5	6	36790834	Splice_Site	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	3535364	36790834	134324233	66	36074											
SLC17A5	26503	genome.wustl.edu	37	chr6	74304823	74304823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtctgtgtccatggtgatCattgagagcccagttttgta	7	15	12	7	0	2	2	1	2	1	1	3	3	3	2	2	1	1	2	2	1	1	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:74304823C>G	ENST00000355773.5	-	11	1733	c.1465G>C	c.(1465-1467)Gat>Cat	p.D489H		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	489					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCATGGTGATCATTGAGAGCC	0.373																																																	0													196	189	191					6																	74304823		2203	4300	6503	SO:0001583	missense	0			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1465G>C	6.37:g.74304823C>G	ENSP00000348019:p.Asp489His		Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D489H	ENST00000355773.5	37	c.1465	CCDS4981.1	6	.	.	.	.	.	.	.	.	.	.	C	5.784	0.329047	0.10956	.	.	ENSG00000119899	ENST00000355773	T	0.60672	0.17	5.3	3.07	0.35406	Major facilitator superfamily domain, general substrate transporter (1);	1.704590	0.02644	N	0.105650	T	0.26991	0.0661	L	0.31371	0.925	0.19575	N	0.999969	B	0.02656	0.0	B	0.04013	0.001	T	0.13656	-1.0501	10	0.48119	T	0.1	.	7.3705	0.26798	0.0:0.6708:0.1409:0.1882	.	489	Q9NRA2	S17A5_HUMAN	H	489	ENSP00000348019:D489H	ENSP00000348019:D489H	D	-	1	0	SLC17A5	74361544	0.000000	0.05858	0.342000	0.25602	0.148000	0.21650	0.182000	0.16900	1.153000	0.42468	0.542000	0.68232	GAT	SLC17A5	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000119899		0.373	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A5	HGNC	protein_coding	OTTHUMT00000041228.1		0	123	0	C			74304823	-1			no_errors	ENST00000355773	ensembl	human	known	74_37	missense	37.25	64	38	SNP	0.085	G	G	74304823	C	G	74304823	3	3	142	1	0	0	0	0	1	0	0	0	14465	826	29	5	26	5	SLC17A5	6	74304823	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	37513989	74304823	96810244	67	36075											
CD109	135228	genome.wustl.edu	37	chr6	74502432	74502432	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaacagaacatgataaatTttgctccaaatatttacatt	16	14	5	6	0	0	3	0	2	0	1	1	3	1	3	1	0	4	1	1	0	7	7			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:74502432T>G	ENST00000287097.5	+	23	2897	c.2785T>G	c.(2785-2787)Ttt>Gtt	p.F929V	CD109_ENST00000474094.1_3'UTR|CD109_ENST00000422508.2_Missense_Mutation_p.F852V|CD109_ENST00000437994.2_Missense_Mutation_p.F929V			Q6YHK3	CD109_HUMAN	CD109 molecule	929					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						CATGATAAATTTTGCTCCAAA	0.368																																																	0													116	111	113					6																	74502432		2203	4300	6503	SO:0001583	missense	0			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.2785T>G	6.37:g.74502432T>G	ENSP00000287097:p.Phe929Val		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.F929V	ENST00000287097.5	37	c.2785	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742413	0.89573	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.55760	0.5;0.5;0.5	5.87	5.87	0.94306	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);	0.109388	0.64402	D	0.000004	T	0.70762	0.3261	M	0.83774	2.66	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.997;0.98;0.998	T	0.76035	-0.3106	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	852;929;929	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	V	929;852;929	ENSP00000388062:F929V;ENSP00000404475:F852V;ENSP00000287097:F929V	ENSP00000287097:F929V	F	+	1	0	CD109	74559153	1.000000	0.71417	0.940000	0.37924	0.880000	0.50808	7.885000	0.87282	2.371000	0.80710	0.533000	0.62120	TTT	CD109	-	pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000156535		0.368	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3		0	62	0	T	NM_133493		74502432	1			no_errors	ENST00000287097	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	G	G	74502432	T	G	74502432	3	3	142	1	0	0	0	0	1	0	0	0	2970	1841	64	4	2875	4	CD109	6	74502432	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	197609	74502432	96612635	68	36076											
SNAP91	9892	genome.wustl.edu	37	chr6	84292073	84292073	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccatgaaagaacccccaaAtcctgaaaaaaagttccaaa	19	5	5	12	1	0	3	0	2	0	1	2	3	2	3	5	0	1	1	5	0	7	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:84292073A>C	ENST00000439399.2	-	23	2333	c.2017T>G	c.(2017-2019)Ttt>Gtt	p.F673V	SNAP91_ENST00000195649.6_Missense_Mutation_p.F673V|SNAP91_ENST00000369694.2_Missense_Mutation_p.F673V|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000437520.1_Missense_Mutation_p.F366V|SNAP91_ENST00000428679.2_Missense_Mutation_p.F673V|SNAP91_ENST00000520213.1_Missense_Mutation_p.F366V|SNAP91_ENST00000521743.1_Missense_Mutation_p.F673V|SNAP91_ENST00000520302.1_Missense_Mutation_p.F643V|SNAP91_ENST00000521485.1_Missense_Mutation_p.F673V	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	673					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GAACCCCCAAATCCTGAAAAA	0.403																																																	0													47	47	47					6																	84292073		1864	4101	5965	SO:0001583	missense	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2017T>G	6.37:g.84292073A>C	ENSP00000400459:p.Phe673Val		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.F673V	ENST00000439399.2	37	c.2017	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	A	16.09	3.023878	0.54683	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448;ENST00000521931	T;T;T;T;T;T;T;T;T;T;T	0.32023	2.43;2.45;2.45;2.43;2.45;2.39;2.41;2.45;2.39;1.88;1.47	5.57	5.57	0.84162	.	0.987636	0.08273	N	0.971053	T	0.46852	0.1414	M	0.64997	1.995	0.45318	D	0.998319	D;D;D;P;D	0.65815	0.981;0.981;0.995;0.874;0.962	D;D;D;P;P	0.71184	0.932;0.943;0.972;0.449;0.719	T	0.16748	-1.0392	10	0.59425	D	0.04	-14.3325	15.7193	0.77694	1.0:0.0:0.0:0.0	.	554;366;643;673;671	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	V	673;673;673;673;673;366;643;673;366;14;486	ENSP00000429776:F673V;ENSP00000358708:F673V;ENSP00000400459:F673V;ENSP00000195649:F673V;ENSP00000412492:F673V;ENSP00000413277:F366V;ENSP00000428511:F643V;ENSP00000428215:F673V;ENSP00000428026:F366V;ENSP00000430255:F14V;ENSP00000430071:F486V	ENSP00000195649:F673V	F	-	1	0	SNAP91	84348792	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	6.778000	0.75043	2.128000	0.65567	0.533000	0.62120	TTT	SNAP91	-	NULL	ENSG00000065609		0.403	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1		0	28	0	A			84292073	-1			no_errors	ENST00000369694	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	C	C	84292073	A	C	84292073	3	2	142	1	0	0	0	0	1	0	0	0	14878	101	4	4	734	4	SNAP91	6	84292073	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	9789641	84292073	86822994	69	36077											
GRIK2	2898	genome.wustl.edu	37	chr6	102513685	102513685	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaacagagagccaagactaAgttacctcaagactatgtat	16	9	7	9	0	2	3	2	0	0	3	2	4	2	3	2	0	3	2	2	0	7	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:102513685A>C	ENST00000421544.1	+	16	3052				GRIK2_ENST00000369138.1_Missense_Mutation_p.K859T|GRIK2_ENST00000413795.1_Intron|GRIK2_ENST00000369134.4_Intron|GRIK2_ENST00000369137.3_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)	GCCAAGACTAAGTTACCTCAA	0.343																																																	0													296	242	258					6																	102513685		692	1589	2281	SO:0001627	intron_variant	0				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.2563-2537A>C	6.37:g.102513685A>C			A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K859T	ENST00000421544.1	37	c.2576	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	A	7.873	0.728616	0.15507	.	.	ENSG00000164418	ENST00000369138	T	0.13089	2.62	3.75	2.54	0.30619	.	.	.	.	.	T	0.02727	0.0082	N	0.19112	0.55	0.80722	D	1	B	0.26445	0.149	B	0.15052	0.012	T	0.31888	-0.9927	9	0.46703	T	0.11	.	6.1301	0.20201	0.7624:0.0:0.0:0.2376	.	859	Q13002-5	.	T	859	ENSP00000358134:K859T	ENSP00000358134:K859T	K	+	2	0	GRIK2	102620378	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.285000	0.33261	0.750000	0.32877	0.477000	0.44152	AAG	GRIK2	-	NULL	ENSG00000164418		0.343	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1		0	53	0	A			102513685	1			no_errors	ENST00000369138	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	C	C	102513685	A	C	102513685	1	2	142	0	1	0	0	0	0	0	0	0	6801	72	3	4		4	GRIK2	6	102513685	Intron	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	18221612	102513685	68601382	70	36078											
LAMA4	3910	genome.wustl.edu	37	chr6	112457365	112457365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatttgagctttctttaacGtatcttcaagatgcacaggg	11	15	8	7	1	3	2	1	1	2	1	3	2	3	2	0	1	3	3	0	1	4	7			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:112457365G>A	ENST00000230538.7	-	25	3771	c.3374C>T	c.(3373-3375)aCg>aTg	p.T1125M	LAMA4_ENST00000389463.4_Missense_Mutation_p.T1118M|LAMA4_ENST00000522006.1_Missense_Mutation_p.T1118M|LAMA4_ENST00000424408.2_Missense_Mutation_p.T1118M	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1125	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	p.T1118M(1)		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)		TTTCTTTAACGTATCTTCAAG	0.363																																																	1	Substitution - Missense(1)	large_intestine(1)											137	122	127					6																	112457365		2203	4300	6503	SO:0001583	missense	0				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.3374C>T	6.37:g.112457365G>A	ENSP00000230538:p.Thr1125Met		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.T1125M	ENST00000230538.7	37	c.3374	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	g	17.31	3.357414	0.61293	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.93	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.202649	0.51477	N	0.000086	T	0.70745	0.3259	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.60886	0.88;0.809	T	0.80106	-0.1521	10	0.59425	D	0.04	.	15.3825	0.74669	0.0666:0.0:0.9334:0.0	.	1125;1118	Q16363;Q16363-2	LAMA4_HUMAN;.	M	1125;1118;1118;1118	ENSP00000230538:T1125M;ENSP00000429488:T1118M;ENSP00000374114:T1118M;ENSP00000416470:T1118M	ENSP00000230538:T1125M	T	-	2	0	LAMA4	112564058	1.000000	0.71417	0.896000	0.35187	0.415000	0.31203	5.135000	0.64777	1.527000	0.49086	-0.119000	0.15052	ACG	LAMA4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000112769		0.363	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2		0	53	0	G	NM_001105206		112457365	-1			no_errors	ENST00000230538	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.986	A	A	112457365	G	A	112457365	3	1	142	1	0	0	0	0	1	0	0	0	8636	1145	40	1	2157	1	LAMA4	6	112457365	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	9943680	112457365	58657702	71	36079											
ECT2L	345930	genome.wustl.edu	37	chr6	139170551	139170551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttagcgatggagacagcaGagaaatcaatttactccaag	16	9	9	7	1	1	2	1	0	0	2	2	5	2	2	1	1	3	1	1	1	5	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:139170551G>C	ENST00000423192.1	+	8	1210	c.1049G>C	c.(1048-1050)aGa>aCa	p.R350T	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.R281T|ECT2L_ENST00000367682.2_Missense_Mutation_p.R350T			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	350							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						GGAGACAGCAGAGAAATCAAT	0.488			"N, Splice, Mis"		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													86	82	84					6																	139170551		1926	4143	6069	SO:0001583	missense	0				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.1049G>C	6.37:g.139170551G>C	ENSP00000387388:p.Arg350Thr		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain	p.R350T	ENST00000423192.1	37	c.1049	CCDS43508.1	6	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753207	0.49362	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75589	0.16;0.16;-0.95	5.53	5.53	0.82687	.	0.265700	0.23487	U	0.047651	T	0.81093	0.4751	M	0.68317	2.08	0.33898	D	0.638146	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.79366	-0.1833	10	0.35671	T	0.21	-4.3043	16.7427	0.85464	0.0:0.0:1.0:0.0	.	281;350	F5H7S9;Q008S8	.;ECT2L_HUMAN	T	350;350;281	ENSP00000387388:R350T;ENSP00000356655:R350T;ENSP00000442307:R281T	ENSP00000356655:R350T	R	+	2	0	ECT2L	139212244	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.809000	0.47971	2.758000	0.94735	0.591000	0.81541	AGA	ECT2L	-	NULL	ENSG00000203734		0.488	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3		0	50	0	G	NM_001077706		139170551	1			no_errors	ENST00000367682	ensembl	human	known	74_37	missense	45.95	19	17	SNP	1.000	C	C	139170551	G	C	139170551	3	2	142	1	0	0	0	0	1	0	0	0	4916	942	33	5	1075	5	ECT2L	6	139170551	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	26713186	139170551	31944516	72	36080											
SYNE1	23345	genome.wustl.edu	37	chr6	152780060	152780060	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagtggggagtaacattcTttgacctttaaaaacataaa	16	11	9	5	0	1	1	0	1	1	0	1	3	1	3	1	3	2	1	1	3	6	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:152780060T>A	ENST00000367255.5	-	22	3001	c.2400A>T	c.(2398-2400)aaA>aaT	p.K800N	SYNE1_ENST00000367253.4_Missense_Mutation_p.K800N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K800N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K800N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K807N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K790N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K807N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K807N|SYNE1_ENST00000495090.2_Missense_Mutation_p.K367N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	800					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)		AGTAACATTCTTTGACCTTTA	0.393										HNSCC(10;0.0054)																																							0													59	59	59					6																	152780060		2203	4300	6503	SO:0001583	missense	0			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.2400A>T	6.37:g.152780060T>A	ENSP00000356224:p.Lys800Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K800N	ENST00000367255.5	37	c.2400	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	15.72	2.918296	0.52546	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.54071	1.43;1.43;1.43;1.43;0.59;1.43;1.43;1.43;1.43	5.72	3.32	0.38043	.	0.092738	0.46442	D	0.000294	T	0.24044	0.0582	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B;B;B	0.27594	0.158;0.043;0.182;0.072;0.016;0.043;0.072	B;B;B;B;B;B;B	0.27608	0.046;0.02;0.045;0.081;0.02;0.02;0.045	T	0.07065	-1.0792	10	0.21014	T	0.42	.	4.9753	0.14136	0.1256:0.2739:0.0:0.6004	.	783;800;367;790;800;800;807	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	N	800;807;800;807;807;800;790;800;367	ENSP00000356224:K800N;ENSP00000396024:K807N;ENSP00000265368:K800N;ENSP00000390975:K807N;ENSP00000341887:K807N;ENSP00000356222:K800N;ENSP00000356217:K790N;ENSP00000414510:K800N;ENSP00000438508:K367N	ENSP00000265368:K800N	K	-	3	2	SYNE1	152821753	0.995000	0.38212	0.998000	0.56505	0.998000	0.95712	0.235000	0.17948	0.520000	0.28426	0.528000	0.53228	AAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	15	0	T	NM_182961		152780060	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.999	A	A	152780060	T	A	152780060	3	1	142	1	0	0	0	0	1	0	0	0	15492	1606	56	5	24566	5	SYNE1	6	152780060	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	13609509	152780060	18335007	73	36081											
CREB5	9586	genome.wustl.edu	37	chr7	28610022	28610022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagttggtggggccatgacgGggcccggaactcaccagctt	7	7	15	12	2	1	1	1	1	0	0	1	2	1	2	3	6	2	2	3	6	1	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:28610022G>T	ENST00000357727.2	+	5	721	c.331G>T	c.(331-333)Ggg>Tgg	p.G111W	CREB5_ENST00000396299.2_Missense_Mutation_p.G78W|CREB5_ENST00000409603.1_Missense_Mutation_p.G78W|CREB5_ENST00000396300.2_Missense_Mutation_p.G104W	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	111					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						GGCCATGACGGGGCCCGGAAC	0.537																																																	0													91	86	87					7																	28610022		2203	4300	6503	SO:0001583	missense	0			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.331G>T	7.37:g.28610022G>T	ENSP00000350359:p.Gly111Trp		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.G111W	ENST00000357727.2	37	c.331	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057014	0.55325	.	.	ENSG00000146592	ENST00000396299;ENST00000424599;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T	0.65364	-0.11;-0.15;-0.14;-0.11	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	L	0.40543	1.245	0.80722	D	1	P	0.40376	0.715	B	0.43575	0.424	T	0.60260	-0.7298	10	0.39692	T	0.17	-9.2755	19.3132	0.94199	0.0:0.0:1.0:0.0	.	111	Q02930	CREB5_HUMAN	W	78;104;111;104;78	ENSP00000379593:G78W;ENSP00000350359:G111W;ENSP00000379594:G104W;ENSP00000387197:G78W	ENSP00000350359:G111W	G	+	1	0	CREB5	28576547	1.000000	0.71417	0.990000	0.47175	0.884000	0.51177	9.110000	0.94302	2.587000	0.87381	0.655000	0.94253	GGG	CREB5	-	pirsf_TF_cAMP-dep	ENSG00000146592		0.537	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4		0	36	0	G	NM_004904		28610022	1			no_errors	ENST00000357727	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.999	T	T	28610022	G	T	28610022	3	4	142	1	0	0	0	0	1	0	0	0	3867	1232	43	3	349	3	CREB5	7	28610022	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09		28610022	130528641	74	36082											
ANLN	54443	genome.wustl.edu	37	chr7	36460273	36460273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caataaagcaggtgattgttCggaaggaagatgttacttca	14	11	11	5	1	1	2	1	1	0	1	2	4	1	4	0	3	2	3	0	3	6	5	rs375850531		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:36460273C>T	ENST00000265748.2	+	12	2304	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W	ANLN_ENST00000396068.2_Missense_Mutation_p.R658W	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	695					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GGTGATTGTTCGGAAGGAAGA	0.338																																																	0								C	TRP/ARG	0,4406		0,0,2203	149	142	144		2083	5.8	1	7		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANLN	NM_018685.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	695/1125	36460273	1,13005	2203	4300	6503	SO:0001583	missense	0			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2083C>T	7.37:g.36460273C>T	ENSP00000265748:p.Arg695Trp		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R695W	ENST00000265748.2	37	c.2083	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542967	0.86022	0.0	1.16E-4	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.19938	2.11;2.25	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	M	0.68593	2.085	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	0.41645	-0.9497	10	0.87932	D	0	-13.7119	20.1379	0.98040	0.0:1.0:0.0:0.0	.	572;657;658;695	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	W	695;658	ENSP00000265748:R695W;ENSP00000379380:R658W	ENSP00000265748:R695W	R	+	1	2	ANLN	36426798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.864000	0.69575	2.779000	0.95612	0.655000	0.94253	CGG	ANLN	-	NULL	ENSG00000011426		0.338	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3		0	44	0	C	NM_018685		36460273	1			no_errors	ENST00000265748	ensembl	human	known	74_37	missense	42.11	33	24	SNP	1.000	T	T	36460273	C	T	36460273	3	4	142	1	0	0	0	0	1	0	0	0	694	875	31	1	2129	1	ANLN	7	36460273	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	7850251	36460273	122678390	75	36083											
CDK14	5218	genome.wustl.edu	37	chr7	90747400	90747400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcttctatttttactgtcCcaaatgtgagattgcaacca	10	16	6	9	0	2	1	0	1	2	1	3	2	3	1	2	0	3	1	2	0	4	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:90747400C>A	ENST00000380050.3	+	14	1446	c.1315C>A	c.(1315-1317)Cca>Aca	p.P439T	CDK14_ENST00000265741.3_Missense_Mutation_p.P421T|CDK14_ENST00000406263.1_Missense_Mutation_p.P393T|CDK14_ENST00000436577.2_Missense_Mutation_p.P310T			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	439					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						TTTTACTGTCCCAAATGTGAG	0.338																																					GBM(83;1228 1256 8311 16577 31299)												0													77	81	79					7																	90747400		2203	4300	6503	SO:0001583	missense	0				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.1315C>A	7.37:g.90747400C>A	ENSP00000369390:p.Pro439Thr		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P439T	ENST00000380050.3	37	c.1315		7	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802365	0.70682	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.70986	-0.43;-0.43;-0.42;-0.53	5.78	4.9	0.64082	Protein kinase-like domain (1);	0.062472	0.64402	D	0.000005	T	0.71517	0.3349	L	0.43923	1.385	0.53688	D	0.999971	B;D;B	0.56287	0.084;0.975;0.084	B;P;B	0.50570	0.039;0.644;0.063	T	0.74951	-0.3489	10	0.62326	D	0.03	-3.966	15.1128	0.72372	0.0:0.9321:0.0:0.0679	.	310;421;439	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	T	439;421;393;310	ENSP00000369390:P439T;ENSP00000265741:P421T;ENSP00000385034:P393T;ENSP00000398936:P310T	ENSP00000265741:P421T	P	+	1	0	CDK14	90585336	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.203000	0.51075	1.594000	0.50039	0.655000	0.94253	CCA	CDK14	-	superfamily_Kinase-like_dom	ENSG00000058091		0.338	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	HGNC	protein_coding	OTTHUMT00000059970.5		0	64	0	C	NM_012395		90747400	1			no_errors	ENST00000380050	ensembl	human	known	74_37	missense	47.22	19	17	SNP	1.000	A	A	90747400	C	A	90747400	3	1	142	1	0	0	0	0	1	0	0	0	3137	623	22	3	1311	3	CDK14	7	90747400	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	54287127	90747400	68391263	76	36084											
FBXL13	222235	genome.wustl.edu	37	chr7	102523840	102523840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttattcccttgcagtcagCcatataaatgtgactgagat	11	14	8	8	0	1	2	1	2	0	1	2	3	2	2	2	0	2	2	2	0	4	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:102523840C>T	ENST00000313221.4	-	14	1726	c.1300G>A	c.(1300-1302)Gct>Act	p.A434T	FBXL13_ENST00000379305.3_Missense_Mutation_p.A434T|FBXL13_ENST00000455112.2_Missense_Mutation_p.A434T|FBXL13_ENST00000436908.1_Missense_Mutation_p.A434T|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.A434T|FBXL13_ENST00000393772.2_Missense_Mutation_p.A434T|FBXL13_ENST00000456695.1_Intron	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	434										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTGCAGTCAGCCATATAAATG	0.358																																																	0													108	104	105					7																	102523840		2203	4300	6503	SO:0001583	missense	0			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.1300G>A	7.37:g.102523840C>T	ENSP00000321927:p.Ala434Thr		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.A434T	ENST00000313221.4	37	c.1300	CCDS5726.1	7	.	.	.	.	.	.	.	.	.	.	C	4.532	0.098670	0.08681	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.02498	4.27;4.27;4.27;4.27;4.27;4.27	5.27	1.75	0.24633	.	0.623617	0.14115	N	0.340436	T	0.03390	0.0098	L	0.46157	1.445	0.52501	D	0.999958	B;P;B	0.37158	0.046;0.585;0.413	B;B;B	0.35971	0.086;0.215;0.168	T	0.55347	-0.8155	10	0.34782	T	0.22	.	9.4738	0.38858	0.2655:0.657:0.0:0.0775	.	434;434;434	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	T	434	ENSP00000377367:A434T;ENSP00000368610:A434T;ENSP00000368607:A434T;ENSP00000388608:A434T;ENSP00000321927:A434T;ENSP00000391550:A434T	ENSP00000321927:A434T	A	-	1	0	FBXL13	102311076	0.869000	0.29996	0.559000	0.28332	0.072000	0.16883	1.505000	0.35736	0.521000	0.28445	0.655000	0.94253	GCT	FBXL13	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000161040		0.358	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1		0	27	0	C	NM_145032		102523840	-1			no_errors	ENST00000313221	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.511	T	T	102523840	C	T	102523840	3	4	142	1	0	0	0	0	1	0	0	0	5731	739	26	3	935	3	FBXL13	7	102523840	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	11776440	102523840	56614823	77	36085											
RELN	5649	genome.wustl.edu	37	chr7	103180780	103180780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgctggaattgctgaaaAggaactcctgaagaagactc	14	9	10	8	0	0	4	0	2	0	2	2	6	1	6	1	2	3	2	1	2	6	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:103180780A>G	ENST00000428762.1	-	44	6953	c.6794T>C	c.(6793-6795)cTt>cCt	p.L2265P	RELN_ENST00000424685.2_Missense_Mutation_p.L2265P|RELN_ENST00000343529.5_Missense_Mutation_p.L2265P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2265					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)		ATTGCTGAAAAGGAACTCCTG	0.547																																					NSCLC(146;835 1944 15585 22231 52158)												0													104	101	102					7																	103180780		2203	4300	6503	SO:0001583	missense	0				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.6794T>C	7.37:g.103180780A>G	ENSP00000392423:p.Leu2265Pro		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.L2265P	ENST00000428762.1	37	c.6794	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792119	0.50102	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.28895	1.59;1.59;1.59	5.44	5.44	0.79542	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.38531	1.155	0.80722	D	1	D;P	0.69078	0.997;0.92	D;P	0.69142	0.962;0.653	T	0.16837	-1.0389	10	0.38643	T	0.18	.	10.9553	0.47354	0.8604:0.0:0.0:0.1396	.	2265;2265	P78509-2;P78509	.;RELN_HUMAN	P	2265	ENSP00000392423:L2265P;ENSP00000345694:L2265P;ENSP00000388446:L2265P	ENSP00000345694:L2265P	L	-	2	0	RELN	102968016	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.711000	0.74675	2.194000	0.70268	0.533000	0.62120	CTT	RELN	-	superfamily_Sialidases	ENSG00000189056		0.547	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1		0	49	0	A	NM_005045		103180780	-1			no_errors	ENST00000424685	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	G	G	103180780	A	G	103180780	3	3	142	1	0	0	0	0	1	0	0	0	13265	72	3	4	3676	4	RELN	7	103180780	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	656940	103180780	55957883	78	36086											
SLC26A3	1811	genome.wustl.edu	37	chr7	107418651	107418651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacgatggttagcagttGaaatgccacactagctgcca	13	8	10	10	1	0	1	0	1	0	0	0	3	0	1	2	1	5	4	2	1	4	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:107418651G>T	ENST00000340010.5	-	13	1667	c.1483C>A	c.(1483-1485)Caa>Aaa	p.Q495K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.Q460K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	495					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.Q495K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GTTAGCAGTTGAAATGCCACA	0.468																																																	1	Substitution - Missense(1)	lung(1)											101	79	86					7																	107418651		2203	4300	6503	SO:0001583	missense	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1483C>A	7.37:g.107418651G>T	ENSP00000345873:p.Gln495Lys			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.Q495K	ENST00000340010.5	37	c.1483	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973725	0.53720	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92805	-3.09;-3.11	5.81	4.92	0.64577	.	0.098174	0.64402	D	0.000002	D	0.90892	0.7138	L	0.44542	1.39	0.31585	N	0.654598	P;B	0.41420	0.749;0.215	B;B	0.44108	0.441;0.071	D	0.91810	0.5459	10	0.72032	D	0.01	.	16.9709	0.86298	0.0:0.4444:0.5556:0.0	.	460;495	G5E9U3;P40879	.;S26A3_HUMAN	K	460;495	ENSP00000415817:Q460K;ENSP00000345873:Q495K	ENSP00000345873:Q495K	Q	-	1	0	SLC26A3	107205887	0.999000	0.42202	0.996000	0.52242	0.924000	0.55760	2.745000	0.47459	1.419000	0.47118	0.655000	0.94253	CAA	SLC26A3	-	tigrfam_SulP_transpt	ENSG00000091138		0.468	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1		0	34	0	G	NM_000111		107418651	-1			no_errors	ENST00000340010	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.993	T	T	107418651	G	T	107418651	3	4	142	1	0	0	0	0	1	0	0	0	14563	1299	45	3	847	3	SLC26A3	7	107418651	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	4237871	107418651	51720012	79	36087											
SLC26A3	1811	genome.wustl.edu	37	chr7	107423293	107423293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctagaacgacaatcagcacGatgatggcaccaataagccc	15	5	9	12	2	1	2	1	1	0	1	1	4	1	2	2	1	3	3	2	1	5	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:107423293G>A	ENST00000340010.5	-	11	1444	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	SLC26A3_ENST00000422236.2_Silent_p.I385I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	420					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAATCAGCACGATGATGGCAC	0.418																																																	0													84	81	82					7																	107423293		2203	4300	6503	SO:0001819	synonymous_variant	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1260C>T	7.37:g.107423293G>A				Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I420	ENST00000340010.5	37	c.1260	CCDS5748.1	7																																																																																			SLC26A3	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000091138		0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1		0	49	0	G	NM_000111		107423293	-1			no_errors	ENST00000340010	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.005	A	A	107423293	G	A	107423293	2	1	142	1	0	0	0	0	0	0	0	1	14563	1048	37	1		1	SLC26A3	7	107423293	Silent	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	4642	107423293	51715370	80	36088											
FLNC	2318	genome.wustl.edu	37	chr7	128492798	128492798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagcgcctgcccaaccGgcacattggtgagcgtgggg	7	6	16	12	3	0	2	0	2	0	0	0	2	0	2	3	4	4	2	3	4	2	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:128492798G>A	ENST00000325888.8	+	36	6257	c.5996G>A	c.(5995-5997)cGg>cAg	p.R1999Q	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R1966Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1999					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						CTGCCCAACCGGCACATTGGT	0.652																																																	0													42	47	45					7																	128492798		2013	4184	6197	SO:0001583	missense	0			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.5996G>A	7.37:g.128492798G>A	ENSP00000327145:p.Arg1999Gln		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R1999Q	ENST00000325888.8	37	c.5996	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173938	0.78452	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.41758	0.99;0.99	5.97	5.97	0.96955	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.129340	0.50627	D	0.000112	T	0.51500	0.1678	L	0.44542	1.39	0.38909	D	0.957482	D;P	0.71674	0.998;0.818	P;B	0.58172	0.834;0.193	T	0.53143	-0.8480	10	0.62326	D	0.03	.	14.023	0.64568	0.0774:0.0:0.9226:0.0	.	1966;1999	Q14315-2;Q14315	.;FLNC_HUMAN	Q	1999;1966	ENSP00000327145:R1999Q;ENSP00000344002:R1966Q	ENSP00000327145:R1999Q	R	+	2	0	FLNC	128280034	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	3.390000	0.52523	2.837000	0.97791	0.655000	0.94253	CGG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3		0	66	0	G			128492798	1			no_errors	ENST00000325888	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	128492798	G	A	128492798	3	1	142	1	0	0	0	0	1	0	0	0	5957	1116	39	1	6138	1	FLNC	7	128492798	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	21069505	128492798	30645865	81	36089											
CNGB3	54714	genome.wustl.edu	37	chr8	87616392	87616392	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcagggcctccaagaacTtggacttctccatgcttgat	9	11	8	13	0	2	2	1	1	1	1	4	3	3	3	4	2	2	1	4	2	2	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr8:87616392T>G	ENST00000320005.5	-	15	1757	c.1710A>C	c.(1708-1710)caA>caC	p.Q570H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	570					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						CTCCAAGAACTTGGACTTCTC	0.353																																																	0													77	74	75					8																	87616392		2203	4300	6503	SO:0001583	missense	0			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.1710A>C	8.37:g.87616392T>G	ENSP00000316605:p.Gln570His		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.Q570H	ENST00000320005.5	37	c.1710	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	T	17.25	3.343057	0.61073	.	.	ENSG00000170289	ENST00000320005	D	0.92699	-3.09	5.97	2.24	0.28232	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.93154	0.6552	10	0.72032	D	0.01	.	7.2538	0.26164	0.0:0.1282:0.1226:0.7492	.	570;570	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	H	570	ENSP00000316605:Q570H	ENSP00000316605:Q570H	Q	-	3	2	CNGB3	87685508	1.000000	0.71417	0.997000	0.53966	0.626000	0.37791	2.044000	0.41241	0.141000	0.18875	-0.274000	0.10170	CAA	CNGB3	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000170289		0.353	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1		0	59	0	T	NM_019098		87616392	-1			no_errors	ENST00000320005	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	G	G	87616392	T	G	87616392	3	3	142	1	0	0	0	0	1	0	0	0	3608	1606	56	4	735	4	CNGB3	8	87616392	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09		87616392	58747630	82	36090											
RBM12B	389677	genome.wustl.edu	37	chr8	94745658	94745658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagttaacttaacttttCggggcccaactggcctatca	11	11	8	11	1	1	0	1	0	0	0	2	0	1	0	2	3	3	2	2	3	5	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr8:94745658C>A	ENST00000399300.2	-	3	3194	c.2981G>T	c.(2980-2982)cGa>cTa	p.R994L	RBM12B_ENST00000517700.1_Missense_Mutation_p.R874L|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	994	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R994Q(1)		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)			CTTAACTTTTCGGGGCCCAAC	0.368																																																	1	Substitution - Missense(1)	large_intestine(1)											40	38	39					8																	94745658		1811	4084	5895	SO:0001583	missense	0				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.2981G>T	8.37:g.94745658C>A	ENSP00000382239:p.Arg994Leu		A8MYB5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R994L	ENST00000399300.2	37	c.2981	CCDS43755.1	8	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461629	0.84425	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.13196	2.61;2.61	5.44	5.44	0.79542	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.673599	0.14098	N	0.341596	T	0.50343	0.1610	M	0.91249	3.19	0.42188	D	0.991718	D	0.89917	1.0	D	0.97110	1.0	T	0.58967	-0.7542	10	0.87932	D	0	-0.5895	19.2621	0.93971	0.0:1.0:0.0:0.0	.	994	Q8IXT5	RB12B_HUMAN	L	994;874	ENSP00000382239:R994L;ENSP00000427729:R874L	ENSP00000382239:R994L	R	-	2	0	RBM12B	94814834	1.000000	0.71417	0.988000	0.46212	0.811000	0.45836	7.487000	0.81328	2.555000	0.86185	0.563000	0.77884	CGA	RBM12B	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000183808		0.368	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1		0	69	0	C	NM_203390		94745658	-1			no_errors	ENST00000399300	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	A	A	94745658	C	A	94745658	3	1	142	1	0	0	0	0	1	0	0	0	13159	884	31	2	28	2	RBM12B	8	94745658	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	7129266	94745658	51618364	83	36091											
GCNT1	2650	genome.wustl.edu	37	chr9	79118499	79118499	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaccacttgtttgccaataAgtttgacgtggatgttgacc	10	13	9	9	1	0	2	0	2	0	0	0	3	0	3	3	1	1	3	3	1	2	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:79118499A>C	ENST00000376730.4	+	4	1685	c.1202A>C	c.(1201-1203)aAg>aCg	p.K401T	GCNT1_ENST00000442371.1_Missense_Mutation_p.K401T|GCNT1_ENST00000536223.1_Missense_Mutation_p.K401T|GCNT1_ENST00000444201.2_Missense_Mutation_p.K401T	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	401	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.K401T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTGCCAATAAGTTTGACGTG	0.488																																																	1	Substitution - Missense(1)	urinary_tract(1)											116	93	101					9																	79118499		2203	4300	6503	SO:0001583	missense	0			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.1202A>C	9.37:g.79118499A>C	ENSP00000365920:p.Lys401Thr		Q6DJZ4	Missense_Mutation	SNP	pfam_Glyco_trans_14	p.K401T	ENST00000376730.4	37	c.1202	CCDS6653.1	9	.	.	.	.	.	.	.	.	.	.	a	24.1	4.488718	0.84962	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.80982	2.52	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.65721	-0.6099	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	401	Q02742	GCNT1_HUMAN	T	401	ENSP00000440883:K401T;ENSP00000415454:K401T;ENSP00000390703:K401T;ENSP00000365920:K401T	.	K	+	2	0	GCNT1	78308319	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAG	GCNT1	-	NULL	ENSG00000187210		0.488	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT1	HGNC	protein_coding	OTTHUMT00000052725.1		0	16	0	A	NM_001097634		79118499	1			no_errors	ENST00000376730	ensembl	human	known	74_37	missense	39.13	13	9	SNP	1.000	C	C	79118499	A	C	79118499	3	2	142	1	0	0	0	0	1	0	0	0	6325	72	3	4	1204	4	GCNT1	9	79118499	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09		79118499	62094932	84	36092											
C9orf79	286234	genome.wustl.edu	37	chr9	90502633	90502633	+	Silent	SNP	A	A	C	1	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	gggaccactggtaacccctcAgcgtcttcagtctgtgttgc	6	11	11	13	1	4	0	2	0	2	0	4	1	4	1	3	2	3	2	3	2	1	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:90502633A>C	ENST00000325643.5	+	4	3297	c.3231A>C	c.(3229-3231)tcA>tcC	p.S1077S		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1077					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTAACCCCTCAGCGTCTTCAG	0.582																																																	0													80	74	76					9																	90502633		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3231A>C	9.37:g.90502633A>C			B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	NULL	p.S1077	ENST00000325643.5	37	c.3231	CCDS6676.1	9																																																																																			SPATA31E1	-	NULL	ENSG00000177992		0.582	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2		0	33	0	A	NM_178828		90502633	1			no_errors	ENST00000325643	ensembl	human	known	74_37	silent	18.75	26	6	SNP	0.000	C	C	90502633	A	C	90502633	2	2	142	1	0	0	0	0	0	0	0	1	2504	175	7	4		4	C9orf79	9	90502633	Silent	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	11384134	90502633	50710798	85	36093											
NOL8	55035	genome.wustl.edu	37	chr9	95076606	95076606	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcttttgctttttgcctCgcttccaaggctgccaaacg	6	15	7	13	2	1	0	0	0	1	0	3	0	2	0	3	1	4	3	3	1	2	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:95076606C>T	ENST00000535387.1	-	6	2300	c.2301G>A	c.(2299-2301)gcG>gcA	p.A767A	NOL8_ENST00000542053.1_Silent_p.A699A|NOL8_ENST00000358855.4_Silent_p.A699A|NOL8_ENST00000442668.2_Silent_p.A767A|NOL8_ENST00000545558.1_Silent_p.A767A					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTTTTGCCTCGCTTCCAAGG	0.383																																																	0													90	84	86					9																	95076606		1955	4156	6111	SO:0001819	synonymous_variant	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2301G>A	9.37:g.95076606C>T				Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A767	ENST00000535387.1	37	c.2301	CCDS47993.1	9																																																																																			NOL8	-	NULL	ENSG00000198000		0.383	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2		0	27	0	C	NM_017948		95076606	-1			no_errors	ENST00000442668	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.998	T	T	95076606	C	T	95076606	2	4	142	1	0	0	0	0	0	0	0	1	10566	871	31	1		1	NOL8	9	95076606	Silent	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	4573973	95076606	46136825	86	36094											
ASTN2	23245	genome.wustl.edu	37	chr9	119567995	119567995	+	Missense_Mutation	SNP	T	T	C	0	1	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	gcatctctccaaagagggtaTcattgaatttggagtcaggt	11	12	11	7	0	3	2	2	1	1	1	5	3	4	3	1	3	0	2	1	3	3	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:119567995T>C	ENST00000313400.4	-	13	2412	c.2312A>G	c.(2311-2313)gAt>gGt	p.D771G	ASTN2_ENST00000373996.3_Missense_Mutation_p.D767G|ASTN2_ENST00000361209.2_Missense_Mutation_p.D720G|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	771					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AAAGAGGGTATCATTGAATTT	0.483																																																	0													229	212	218					9																	119567995		2203	4300	6503	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2312A>G	9.37:g.119567995T>C	ENSP00000314038:p.Asp771Gly		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.D771G	ENST00000313400.4	37	c.2312		9	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305891	0.60305	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.13538	2.76;2.75;2.58;2.78	5.49	5.49	0.81192	.	0.107759	0.64402	D	0.000011	T	0.18002	0.0432	N	0.19112	0.55	0.52099	D	0.99994	D;P;P	0.60575	0.988;0.908;0.93	P;B;P	0.56216	0.794;0.265;0.774	T	0.05599	-1.0875	9	.	.	.	-20.5972	15.5999	0.76616	0.0:0.0:0.0:1.0	.	720;771;767	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	G	771;767;494;720	ENSP00000314038:D771G;ENSP00000363108:D767G;ENSP00000363098:D494G;ENSP00000354504:D720G	.	D	-	2	0	ASTN2	118607816	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.359000	0.79477	2.074000	0.62210	0.533000	0.62120	GAT	ASTN2	-	NULL	ENSG00000148219		0.483	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding			0	101	0	T	NM_014010		119567995	-1			no_errors	ENST00000313400	ensembl	human	known	74_37	missense	19.61	41	10	SNP	1.000	C	C	119567995	T	C	119567995	3	2	142	1	0	0	0	0	1	0	0	0	1066	1435	50	4	1983	4	ASTN2	9	119567995	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	24491389	119567995	21645436	87	36095											
OR1J4	26219	genome.wustl.edu	37	chr9	125281615	125281615	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcttcttcctcagccacTtggctctcactgacatctcc	5	15	5	16	0	5	1	2	1	4	0	8	1	6	1	3	1	1	2	3	1	0	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:125281615T>G	ENST00000340750.1	+	1	196	c.196T>G	c.(196-198)Ttg>Gtg	p.L66V		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCTCAGCCACTTGGCTCTCAC	0.502																																																	0													298	248	265					9																	125281615		2203	4300	6503	SO:0001583	missense	0			X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"GPCR / Class A : Olfactory receptors"	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.196T>G	9.37:g.125281615T>G	ENSP00000343521:p.Leu66Val		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L66V	ENST00000340750.1	37	c.196	CCDS35122.1	9	.	.	.	.	.	.	.	.	.	.	T	15.05	2.716888	0.48622	.	.	ENSG00000197233;ENSG00000239590	ENST00000444856;ENST00000340750	T	0.00507	6.92	5.52	0.584	0.17422	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27768	U	0.017940	T	0.02688	0.0081	H	0.97365	3.99	0.30276	N	0.791795	D	0.89917	1.0	D	0.91635	0.999	T	0.03139	-1.1068	10	0.62326	D	0.03	.	9.5056	0.39044	0.0:0.3682:0.0:0.6318	.	66	Q8NGS1	OR1J4_HUMAN	V	232;66	ENSP00000343521:L66V	ENSP00000407987:L232V	L	+	1	2	OR1J2;OR1J4	124321436	0.000000	0.05858	1.000000	0.80357	0.429000	0.31625	-0.829000	0.04415	0.192000	0.20272	-0.269000	0.10298	TTG	OR1J4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000239590		0.502	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J4	HGNC	protein_coding	OTTHUMT00000053936.1		0	88	0	T			125281615	1			no_errors	ENST00000340750	ensembl	human	known	74_37	missense	25.58	64	22	SNP	0.999	G	G	125281615	T	G	125281615	3	3	142	1	0	0	0	0	1	0	0	0	11000	1606	56	4	198	4	OR1J4	9	125281615	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	5713620	125281615	15931816	88	36096											
OR1L4	254973	genome.wustl.edu	37	chr9	125486972	125486972	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcccctctgcagccgggaAgtggaaggccttctctacct	8	9	10	14	1	2	0	0	0	2	0	4	2	3	2	5	3	3	1	5	3	4	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:125486972A>C	ENST00000259466.1	+	1	704	c.704A>C	c.(703-705)aAg>aCg	p.K235T		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GCAGCCGGGAAGTGGAAGGCC	0.512																																																	0													235	215	222					9																	125486972		2203	4300	6503	SO:0001583	missense	0				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.704A>C	9.37:g.125486972A>C	ENSP00000259466:p.Lys235Thr		Q6IFN0|Q96R81	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K235T	ENST00000259466.1	37	c.704	CCDS35129.1	9	.	.	.	.	.	.	.	.	.	.	.	15.28	2.787207	0.49997	.	.	ENSG00000136939	ENST00000259466	T	0.00169	8.63	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.00412	0.0013	M	0.89601	3.045	0.32134	N	0.58634	P	0.46457	0.878	P	0.50617	0.646	T	0.03933	-1.0991	10	0.87932	D	0	-13.0107	7.1996	0.25873	0.897:0.0:0.103:0.0	.	235	Q8NGR5	OR1L4_HUMAN	T	235	ENSP00000259466:K235T	ENSP00000259466:K235T	K	+	2	0	OR1L4	124526793	0.346000	0.24844	0.944000	0.38274	0.712000	0.41017	2.884000	0.48562	1.719000	0.51432	0.248000	0.18094	AAG	OR1L4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000136939		0.512	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L4	HGNC	protein_coding	OTTHUMT00000053951.1		0	140	0	A			125486972	1			no_errors	ENST00000259466	ensembl	human	known	74_37	missense	16.84	79	16	SNP	0.743	C	C	125486972	A	C	125486972	3	2	142	1	0	0	0	0	1	0	0	0	11004	72	3	4	706	4	OR1L4	9	125486972	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	205357	125486972	15726459	89	36097											
PTGES2	80142	genome.wustl.edu	37	chr9	130885294	130885294	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccctccacggctccgaacTtgccctcgcggacaatgtag	8	7	9	17	4	0	0	0	0	0	0	3	2	2	1	4	2	2	2	4	2	3	2	rs141329933		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:130885294T>G	ENST00000338961.6	-	5	1550	c.806A>C	c.(805-807)aAg>aCg	p.K269T	PTGES2_ENST00000277462.5_Missense_Mutation_p.K78T|PTGES2_ENST00000483625.1_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	269	GST C-terminal.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						GGCTCCGAACTTGCCCTCGCG	0.617																																																	0													98	82	87					9																	130885294		2203	4300	6503	SO:0001583	missense	0			AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"chromosome 9 open reading frame 15"	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.806A>C	9.37:g.130885294T>G	ENSP00000345341:p.Lys269Thr		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.K269T	ENST00000338961.6	37	c.806	CCDS6891.1	9	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189433	0.57909	.	.	ENSG00000148334	ENST00000338961;ENST00000277462;ENST00000449878	T;T;T	0.42513	0.97;0.97;0.97	5.42	4.29	0.51040	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.090855	0.85682	D	0.000000	T	0.32852	0.0843	L	0.55103	1.725	0.49483	D	0.999792	B	0.30686	0.29	B	0.23574	0.047	T	0.06826	-1.0805	10	0.15066	T	0.55	-0.0076	10.0812	0.42391	0.0:0.0784:0.0:0.9216	.	269	Q9H7Z7	PGES2_HUMAN	T	269;78;234	ENSP00000345341:K269T;ENSP00000277462:K78T;ENSP00000411378:K234T	ENSP00000277462:K78T	K	-	2	0	PTGES2	129925115	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.831000	0.62752	0.917000	0.36895	0.459000	0.35465	AAG	PTGES2	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000148334		0.617	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES2	HGNC	protein_coding	OTTHUMT00000054339.1		0	46	0	T			130885294	-1			no_errors	ENST00000338961	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	G	G	130885294	T	G	130885294	3	3	142	1	0	0	0	0	1	0	0	0	12790	1609	56	4	339	4	PTGES2	9	130885294	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	5398322	130885294	10328137	90	36098											
SEC16A	9919	genome.wustl.edu	37	chr9	139351997	139351997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggcttgcgtggccagccCcatttccgccaggcggcagg	6	6	15	14	3	0	0	0	0	0	0	1	1	1	0	5	5	2	2	5	5	1	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:139351997C>A	ENST00000371706.3	-	16	4948	c.4915G>T	c.(4915-4917)Ggg>Tgg	p.G1639W	SEC16A_ENST00000431893.2_Missense_Mutation_p.G1639W|SEC16A_ENST00000313050.7_Missense_Mutation_p.G1817W|SEC16A_ENST00000290037.6_Missense_Mutation_p.G1639W			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1639					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)		GTGGCCAGCCCCATTTCCGCC	0.612																																																	0													37	51	47					9																	139351997		2069	4206	6275	SO:0001583	missense	0			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.4915G>T	9.37:g.139351997C>A	ENSP00000360771:p.Gly1639Trp		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.G1817W	ENST00000371706.3	37	c.5449		9	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610552	0.87258	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;D;T;T;T;T	0.82984	-0.92;-1.67;-1.16;-0.91;-0.91;-0.91	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95138	0.8261	10	0.87932	D	0	-26.4578	16.9705	0.86297	0.0:1.0:0.0:0.0	.	1817;1639;1639;1207	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	W	1817;211;539;1639;1639;1639;1207	ENSP00000325827:G1817W;ENSP00000277537:G211W;ENSP00000403525:G539W;ENSP00000360771:G1639W;ENSP00000290037:G1639W;ENSP00000387583:G1639W	ENSP00000277537:G211W	G	-	1	0	SEC16A	138471818	1.000000	0.71417	0.951000	0.38953	0.899000	0.52679	7.621000	0.83083	2.306000	0.77630	0.561000	0.74099	GGG	SEC16A	-	NULL	ENSG00000148396		0.612	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1		0	52	0	C	XM_088459		139351997	-1			no_errors	ENST00000313050	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	139351997	C	A	139351997	3	1	142	1	0	0	0	0	1	0	0	0	14031	623	22	3	1684	3	SEC16A	9	139351997	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	8466703	139351997	1861434	91	36099											
ZEB1	6935	genome.wustl.edu	37	chr10	31810100	31810100	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtgcagaagagctctcaAaaattgctgattcagtaaac	16	9	8	8	0	2	3	2	1	1	2	3	3	2	3	0	0	4	4	0	0	6	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr10:31810100A>C	ENST00000320985.10	+	7	1947	c.1837A>C	c.(1837-1839)Aaa>Caa	p.K613Q	ZEB1_ENST00000542815.3_Missense_Mutation_p.K546Q|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.K593Q|ZEB1_ENST00000446923.2_Missense_Mutation_p.K597Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.K614Q			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	613					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGAGCTCTCAAAAATTGCTGA	0.403																																					Ovarian(40;423 959 14296 36701 49589)												0													70	72	71					10																	31810100		2203	4299	6502	SO:0001583	missense	0			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.1837A>C	10.37:g.31810100A>C	ENSP00000319248:p.Lys613Gln		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.K614Q	ENST00000320985.10	37	c.1840	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	A	17.63	3.437788	0.62955	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.34	5.34	0.76211	Homeodomain-related (1);Homeobox (2);	0.177751	0.39475	N	0.001352	D	0.84234	0.5427	N	0.17278	0.47	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.972;1.0;1.0;1.0;1.0;0.988;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.918;0.997;0.998;0.998;0.998;0.951;0.999;0.998	D	0.85677	0.1298	10	0.45353	T	0.12	-27.813	15.6271	0.76870	1.0:0.0:0.0:0.0	.	546;613;597;613;613;593;614;613	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	Q	395;613;614;613;546;613;593;472;504;597	ENSP00000444282:K395Q;ENSP00000354487:K614Q;ENSP00000444891:K546Q;ENSP00000319248:K613Q;ENSP00000391612:K597Q	ENSP00000319248:K613Q	K	+	1	0	ZEB1	31850106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.155000	0.67459	0.533000	0.62120	AAA	ZEB1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom	ENSG00000148516		0.403	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2		0	43	0	A	NM_030751		31810100	1			no_errors	ENST00000361642	ensembl	human	known	74_37	missense	50.00	7	7	SNP	1.000	C	C	31810100	A	C	31810100	3	2	142	1	0	0	0	0	1	0	0	0	17671	15	1	4	1877	4	ZEB1	10	31810100	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09		31810100	103724647	92	36100											
SLC16A9	220963	genome.wustl.edu	37	chr10	61412546	61412546	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttctaaacattagaggcaActttgtacaagaaagttgtt	14	14	7	6	0	2	2	0	0	2	2	2	2	2	2	0	1	3	4	0	1	7	7			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr10:61412546A>C	ENST00000395348.3	-	6	2150	c.1514T>G	c.(1513-1515)gTt>gGt	p.V505G	SLC16A9_ENST00000395347.1_Missense_Mutation_p.V505G	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	505					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						ATTAGAGGCAACTTTGTACAA	0.398																																																	0													61	64	63					10																	61412546		2203	4300	6503	SO:0001583	missense	0			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.1514T>G	10.37:g.61412546A>C	ENSP00000378757:p.Val505Gly		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V505G	ENST00000395348.3	37	c.1514	CCDS7256.1	10	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091661	0.36952	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.04917	3.53;3.53	5.57	4.44	0.53790	.	0.964852	0.08622	N	0.918293	T	0.05273	0.0140	N	0.24115	0.695	0.58432	D	0.999994	B	0.11235	0.004	B	0.09377	0.004	T	0.39742	-0.9599	10	0.87932	D	0	.	4.448	0.11607	0.6415:0.183:0.1756:0.0	.	505	Q7RTY1	MOT9_HUMAN	G	505	ENSP00000378757:V505G;ENSP00000378756:V505G	ENSP00000378756:V505G	V	-	2	0	SLC16A9	61082552	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.057000	0.49931	2.103000	0.63969	0.528000	0.53228	GTT	SLC16A9	-	NULL	ENSG00000165449		0.398	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A9	HGNC	protein_coding	OTTHUMT00000048174.2		0	104	0	A	NM_194298		61412546	-1			no_errors	ENST00000395347	ensembl	human	known	74_37	missense	40.48	25	17	SNP	1.000	C	C	61412546	A	C	61412546	3	2	142	1	0	0	0	0	1	0	0	0	14460	43	2	4	19	4	SLC16A9	10	61412546	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	29602446	61412546	74122201	93	36101											
ANK3	288	genome.wustl.edu	37	chr10	61831657	61831657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ttactcatgcttgactgggaCaatttttgtgatagttcatg	9	17	9	6	0	2	2	2	2	0	0	2	3	2	3	0	1	2	2	0	1	3	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr10:61831657C>A	ENST00000280772.2	-	37	9173	c.8982G>T	c.(8980-8982)ttG>ttT	p.L2994F	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)	2994					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						TTGACTGGGACAATTTTTGTG	0.383																																																	0													65	61	62					10																	61831657		2203	4300	6503	SO:0001583	missense	0			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.8982G>T	10.37:g.61831657C>A	ENSP00000280772:p.Leu2994Phe		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.L2994F	ENST00000280772.2	37	c.8982	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	0.066	-1.212964	0.01555	.	.	ENSG00000151150	ENST00000280772	T	0.64085	-0.08	5.44	1.59	0.23543	.	2.069380	0.02814	N	0.124662	T	0.41627	0.1167	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.28138	-1.0053	10	0.38643	T	0.18	.	4.3243	0.11032	0.1547:0.3452:0.0:0.5001	.	2994	Q12955	ANK3_HUMAN	F	2994	ENSP00000280772:L2994F	ENSP00000280772:L2994F	L	-	3	2	ANK3	61501663	0.000000	0.05858	0.007000	0.13788	0.034000	0.12701	-0.169000	0.09911	0.475000	0.27415	0.462000	0.41574	TTG	ANK3	-	NULL	ENSG00000151150		0.383	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0	32	0	C	NM_020987		61831657	-1			no_errors	ENST00000280772	ensembl	human	known	74_37	missense	60.00	6	9	SNP	0.040	A	A	61831657	C	A	61831657	3	1	142	1	0	0	0	0	1	0	0	0	622	477	17	3	4492	3	ANK3	10	61831657	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	419111	61831657	73703090	94	36102											
NRG3	10718	genome.wustl.edu	37	chr10	84745257	84745257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaccgaggacagtgcaagcGaaaacacagcctttctcccc	14	5	8	14	2	1	0	0	0	1	0	2	3	1	1	4	1	5	1	4	1	4	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr10:84745257G>A	ENST00000404547.1	+	10	2059	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K	NRG3_ENST00000545131.1_Missense_Mutation_p.E313K|NRG3_ENST00000556918.1_Missense_Mutation_p.E493K|NRG3_ENST00000404576.2_Missense_Mutation_p.E467K|NRG3_ENST00000372142.2_Missense_Mutation_p.E466K|NRG3_ENST00000537893.1_Missense_Mutation_p.E313K|NRG3_ENST00000372141.2_Missense_Mutation_p.E663K			P56975	NRG3_HUMAN	neuregulin 3	687					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)		CAGTGCAAGCGAAAACACAGC	0.483																																																	0													78	72	74					10																	84745257		2203	4300	6503	SO:0001583	missense	0			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.2059G>A	10.37:g.84745257G>A	ENSP00000384796:p.Glu687Lys		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.E687K	ENST00000404547.1	37	c.2059	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054466	0.75960	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.52295	1.29;1.19;1.21;0.67;1.24;0.75;0.75	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000002	T	0.64394	0.2594	L	0.50333	1.59	0.52099	D	0.999947	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.65948	-0.6044	10	0.87932	D	0	-13.4813	16.9886	0.86347	0.0:0.0:1.0:0.0	.	662;687;466;663	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	K	663;687;662;466;467;493;313;313	ENSP00000361214:E663K;ENSP00000384796:E687K;ENSP00000361215:E466K;ENSP00000385804:E467K;ENSP00000451376:E493K;ENSP00000441201:E313K;ENSP00000440377:E313K	ENSP00000361214:E663K	E	+	1	0	NRG3	84735237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.978000	0.63799	2.615000	0.88500	0.655000	0.94253	GAA	NRG3	-	NULL	ENSG00000185737		0.483	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1		0	65	0	G	XM_166086		84745257	1			no_errors	ENST00000404547	ensembl	human	known	74_37	missense	41.67	14	10	SNP	1.000	A	A	84745257	G	A	84745257	3	1	142	1	0	0	0	0	1	0	0	0	10688	1059	37	1	2265	1	NRG3	10	84745257	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	22913600	84745257	50789490	95	36103											
CYP2E1	1571	genome.wustl.edu	37	chr10	135342131	135342131	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctccccgcgttccatgcGcacagggacaggggtgagtc	7	6	14	14	3	0	1	0	1	0	0	3	3	2	2	4	3	1	2	4	3	0	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr10:135342131G>A	ENST00000463117.2	+	4	596	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.A108A|AL161645.2_ENST00000599428.1_Intron|CYP2E1_ENST00000480558.1_3'UTR			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	108					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)	CGTTCCATGCGCACAGGGACA	0.662									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													68	55	59					10																	135342131		2203	4300	6503	SO:0001819	synonymous_variant	0	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.324G>A	10.37:g.135342131G>A			Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A108	ENST00000463117.2	37	c.324	CCDS7686.1	10																																																																																			CYP2E1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000130649		0.662	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2		0	29	0	G	NM_000773		135342131	1			no_errors	ENST00000252945	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.000	A	A	135342131	G	A	135342131	2	1	142	1	0	0	0	0	0	0	0	1	4179	1074	38	1		1	CYP2E1	10	135342131	Silent	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	50596874	135342131	192616	96	36104											
IFITM2	10581	genome.wustl.edu	37	chr11	308207	308207	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccatgaaccacattgtGcaaaccttctctcctgtcaa	11	11	5	14	0	3	1	2	1	1	0	5	1	4	1	4	0	3	1	4	0	3	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:308207G>A	ENST00000399817.4	+	1	45	c.15G>A	c.(13-15)gtG>gtA	p.V5V	RP11-326C3.7_ENST00000526612.1_RNA|IFITM2_ENST00000533141.1_Intron|IFITM2_ENST00000602569.1_5'Flank	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	5					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACCACATTGTGCAAACCTTCT	0.567																																																	0													170	198	189					11																	308207		2032	4184	6216	SO:0001819	synonymous_variant	0			X57351	CCDS41583.1	11p15.5	2012-03-13	2012-03-13		ENSG00000185201	ENSG00000185201			5413	protein-coding gene	gene with protein product		605578	"interferon induced transmembrane protein 2 (1-8D)"			1906403	Standard	NM_006435		Approved	1-8D	uc001lox.4	Q01629		ENST00000399817.4:c.15G>A	11.37:g.308207G>A			Q6FH82|Q96DA8	Silent	SNP	pfam_CD225/Dispanin_fam	p.V5	ENST00000399817.4	37	c.15	CCDS41583.1	11																																																																																			IFITM2	-	NULL	ENSG00000185201		0.567	IFITM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFITM2	HGNC	protein_coding	OTTHUMT00000383591.1		0	44	0	G	NM_006435		308207	1			no_errors	ENST00000399817	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.000	A	A	308207	G	A	308207	2	1	142	1	0	0	0	0	0	0	0	1	7554	1306	46	3		3	IFITM2	11	308207	Silent	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09		308207	134698309	97	36105											
OR56B1	387748	genome.wustl.edu	37	chr11	5758407	5758407	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggaatggggagtgatctaAgtcttattatactgtcatat	11	16	10	4	0	3	1	1	1	2	0	3	3	3	3	0	3	1	0	0	3	6	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:5758407A>C	ENST00000317121.3	+	1	727	c.661A>C	c.(661-663)Agt>Cgt	p.S221R	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, 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)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GAGTGATCTAAGTCTTATTAT	0.468																																																	0													87	80	82					11																	5758407		2201	4297	6498	SO:0001583	missense	0			BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"GPCR / Class A : Olfactory receptors"	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.661A>C	11.37:g.5758407A>C	ENSP00000322939:p.Ser221Arg		B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S221R	ENST00000317121.3	37	c.661	CCDS31395.1	11	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360585	0.41801	.	.	ENSG00000181023	ENST00000317121	T	0.38560	1.13	5.87	-4.48	0.03515	GPCR, rhodopsin-like superfamily (1);	0.456992	0.18209	U	0.148259	T	0.33323	0.0859	L	0.43152	1.355	0.09310	N	1	P	0.35527	0.507	B	0.41412	0.356	T	0.36720	-0.9736	10	0.72032	D	0.01	.	8.5414	0.33395	0.3547:0.0:0.5303:0.115	.	221	Q8NGI3	O56B1_HUMAN	R	221	ENSP00000322939:S221R	ENSP00000322939:S221R	S	+	1	0	OR56B1	5714983	0.000000	0.05858	0.000000	0.03702	0.889000	0.51656	-0.581000	0.05820	-0.829000	0.04268	0.533000	0.62120	AGT	OR56B1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181023		0.468	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B1	HGNC	protein_coding	OTTHUMT00000143354.1		0	36	0	A	NM_001005180		5758407	1			no_errors	ENST00000317121	ensembl	human	known	74_37	missense	48.00	13	12	SNP	0.000	C	C	5758407	A	C	5758407	3	2	142	1	0	0	0	0	1	0	0	0	11176	72	3	4	663	4	OR56B1	11	5758407	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	5450200	5758407	129248109	98	36106											
OR5M11	219487	genome.wustl.edu	37	chr11	56310161	56310161	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggcatgctctttgacataAgtatcagaacaagaaagctt	15	11	8	7	0	2	3	1	1	1	2	2	3	2	3	0	1	3	4	0	1	5	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:56310161A>C	ENST00000528616.2	-	1	596	c.573T>G	c.(571-573)acT>acG	p.T191T		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTTTGACATAAGTATCAGAAC	0.502																																																	0													53	55	54					11																	56310161		2078	4214	6292	SO:0001819	synonymous_variant	0			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.573T>G	11.37:g.56310161A>C			B2RNL5|B2RNL7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T191	ENST00000528616.2	37	c.573	CCDS53629.1	11																																																																																			OR5M11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000255223		0.502	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	HGNC	protein_coding	OTTHUMT00000391608.1		0	25	0	A	NM_001005245		56310161	-1			no_errors	ENST00000528616	ensembl	human	known	74_37	silent	46.67	8	7	SNP	0.511	C	C	56310161	A	C	56310161	2	2	142	1	0	0	0	0	0	0	0	1	11213	59	3	4		4	OR5M11	11	56310161	Silent	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	50551754	56310161	78696355	99	36107											
AHNAK	79026	genome.wustl.edu	37	chr11	62295472	62295472	+	Silent	SNP	C	C	T	0	0	0	1	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	aaatctccctccaattttggCaaagacacatccacatcccc	13	9	3	16	0	1	1	0	0	1	1	5	1	4	1	5	1	0	1	5	1	3	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:62295472C>T	ENST00000378024.4	-	5	6691	c.6417G>A	c.(6415-6417)ttG>ttA	p.L2139L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2139					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)				CCAATTTTGGCAAAGACACAT	0.502																																																	0													182	194	190					11																	62295472		2202	4299	6501	SO:0001819	synonymous_variant	0			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.6417G>A	11.37:g.62295472C>T			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L2139	ENST00000378024.4	37	c.6417	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1		0	126	0	C	NM_024060		62295472	-1			no_errors	ENST00000378024	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.001	T	T	62295472	C	T	62295472	2	4	142	1	0	0	0	0	0	0	0	1	414	709	25	3		3	AHNAK	11	62295472	Silent	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	5985311	62295472	72711044	100	36108											
SHANK2	22941	genome.wustl.edu	37	chr11	70333283	70333283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgctgctgctggtggacgGctccttcacgatgatggtcg	4	10	15	12	4	1	1	1	1	0	0	3	3	2	2	2	4	2	4	2	4	0	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:70333283G>A	ENST00000423696.2	-	15	2014	c.1978C>T	c.(1978-1980)Ccg>Tcg	p.P660S	SHANK2_ENST00000449833.2_Missense_Mutation_p.P444S|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1040S|SHANK2_ENST00000409161.1_Missense_Mutation_p.P443S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	660					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)			CTGGTGGACGGCTCCTTCACG	0.667																																																	0													73	74	74					11																	70333283		2200	4294	6494	SO:0001583	missense	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1978C>T	11.37:g.70333283G>A	ENSP00000394536:p.Pro660Ser		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P1040S	ENST00000423696.2	37	c.3118		11	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896026	0.72639	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.59224	1.45;1.44;2.23;0.28;1.73;1.74	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.77624	0.4158	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.998	T	0.79463	-0.1793	10	0.46703	T	0.11	.	18.0048	0.89207	0.0:0.0:1.0:0.0	.	660;1039;444	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	S	444;443;318;1040;660;678;663	ENSP00000399423:P444S;ENSP00000386491:P443S;ENSP00000402944:P318S;ENSP00000345193:P1040S;ENSP00000394536:P660S;ENSP00000294018:P663S	ENSP00000294018:P663S	P	-	1	0	SHANK2	70010931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.972000	0.93424	2.271000	0.75665	0.561000	0.74099	CCG	SHANK2	-	NULL	ENSG00000162105		0.667	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding			0	42	0	G	NM_012309		70333283	-1			no_errors	ENST00000338508	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A	A	70333283	G	A	70333283	3	1	142	1	0	0	0	0	1	0	0	0	14310	1203	42	3	2442	3	SHANK2	11	70333283	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	8037811	70333283	64673233	101	36109											
OR10G9	219870	genome.wustl.edu	37	chr11	123894134	123894134	+	Missense_Mutation	SNP	A	A	G	1	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	ccagcatgatgagtgggagcAgatgtgccctcctggccacc	8	7	13	13	0	0	3	0	2	0	1	1	4	1	4	5	2	3	2	5	2	0	0			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:123894134A>G	ENST00000375024.1	+	1	415	c.415A>G	c.(415-417)Aga>Gga	p.R139G		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAGTGGGAGCAGATGTGCCCT	0.552																																																	0													77	72	73					11																	123894134		2201	4288	6489	SO:0001583	missense	0			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.415A>G	11.37:g.123894134A>G	ENSP00000364164:p.Arg139Gly			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R139G	ENST00000375024.1	37	c.415	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	A	1.853	-0.464589	0.04476	.	.	ENSG00000236981	ENST00000375024	T	0.41065	1.01	3.48	-5.42	0.02640	GPCR, rhodopsin-like superfamily (1);	1.210250	0.06075	N	0.660834	T	0.29914	0.0748	L	0.28014	0.82	0.09310	N	1	B	0.14438	0.01	B	0.22601	0.04	T	0.41822	-0.9487	10	0.72032	D	0.01	.	10.5368	0.45009	0.2997:0.1216:0.5786:0.0	.	139	Q8NGN4	O10G9_HUMAN	G	139	ENSP00000364164:R139G	ENSP00000364164:R139G	R	+	1	2	OR10G9	123399344	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.573000	0.02134	-1.414000	0.02025	-1.807000	0.00615	AGA	OR10G9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000236981		0.552	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	HGNC	protein_coding	OTTHUMT00000387269.1		0	59	0	A	NM_001001953		123894134	1			no_errors	ENST00000375024	ensembl	human	known	74_37	missense	27.91	31	12	SNP	0.000	G	G	123894134	A	G	123894134	3	3	142	1	0	0	0	0	1	0	0	0	10943	180	7	4	417	4	OR10G9	11	123894134	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	53560851	123894134	11112382	102	36110											
TMTC1	83857	genome.wustl.edu	37	chr12	29670402	29670402	+	Silent	SNP	A	A	C	1	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	tgagaaggctgaagtgctgcAgcttcctggtaaatctgcaa	11	10	12	8	0	1	2	0	2	1	1	2	3	2	2	1	2	4	6	1	2	5	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr12:29670402A>C	ENST00000539277.1	-	14	2185	c.2127T>G	c.(2125-2127)gcT>gcG	p.A709A	RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000552618.1_Silent_p.A733A|TMTC1_ENST00000551659.1_Silent_p.A771A|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Silent_p.A601A	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	709						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GAAGTGCTGCAGCTTCCTGGT	0.512																																																	0													153	146	148					12																	29670402		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2127T>G	12.37:g.29670402A>C			D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A601	ENST00000539277.1	37	c.1803	CCDS53772.1	12																																																																																			TMTC1	-	pfam_TPR_1,pfam_TPR_2,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000133687		0.512	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1		0	61	0	A	NM_031920		29670402	-1			no_errors	ENST00000256062	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.000	C	C	29670402	A	C	29670402	2	2	142	1	0	0	0	0	0	0	0	1	16307	175	7	4		4	TMTC1	12	29670402	Silent	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09		29670402	104181493	103	36111											
PRPF40B	25766	genome.wustl.edu	37	chr12	50037935	50037935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtgagctggagaggcGgcggcggacactcctacagc	8	5	18	10	3	0	3	0	2	0	1	1	5	1	4	1	6	3	1	1	6	1	1	rs367928140		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr12:50037935G>A	ENST00000380281.1	+	25	2640	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Missense_Mutation_p.R846Q|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R880Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	859					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						CTGGAGAGGCGGCGGCGGACA	0.602											OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	GLN/ARG,GLN/ARG,,	0,4406		0,0,2203	143	114	123		2576,2537,,	4	1	12		123	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,utr-3,utr-3	PRPF40B,FMNL3	NM_001031698.1,NM_012272.1,NM_175736.4,NM_198900.2	43,43,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,,	859/872,846/859,,	50037935	2,13004	2203	4300	6503	SO:0001583	missense	0			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.2576G>A	12.37:g.50037935G>A	ENSP00000369634:p.Arg859Gln	966	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.R880Q	ENST00000380281.1	37	c.2639		12	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859286	0.71834	0.0	2.33E-4	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.29142	1.59;1.58	4.86	3.97	0.46021	.	0.096849	0.43416	D	0.000574	T	0.18130	0.0435	L	0.29908	0.895	0.80722	D	1	B;B	0.34181	0.313;0.44	B;B	0.22753	0.018;0.041	T	0.05784	-1.0864	10	0.39692	T	0.17	-16.694	9.0929	0.36621	0.1711:0.0:0.8289:0.0	.	859;846	Q6NWY9;Q6NWY9-2	PR40B_HUMAN;.	Q	846;859	ENSP00000261897:R846Q;ENSP00000369634:R859Q	ENSP00000261897:R846Q	R	+	2	0	PRPF40B	48324202	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.955000	0.63638	1.418000	0.47098	0.561000	0.74099	CGG	PRPF40B	-	NULL	ENSG00000110844		0.602	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1		0	14	0	G	NM_012272		50037935	1			no_errors	ENST00000548825	ensembl	human	known	74_37	missense	50.00	3	3	SNP	1.000	A	A	50037935	G	A	50037935	3	1	142	1	0	0	0	0	1	0	0	0	12614	1116	39	1	2674	1	PRPF40B	12	50037935	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	20367533	50037935	83813960	104	36112											
SCN8A	6334	genome.wustl.edu	37	chr12	52200089	52200089	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctggcagatataattGagaaatactttgtttcccca	11	15	7	8	0	0	2	0	1	0	2	2	3	2	2	3	1	1	3	3	1	4	7			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr12:52200089G>T	ENST00000354534.6	+	27	4997	c.4819G>T	c.(4819-4821)Gag>Tag	p.E1607*	SCN8A_ENST00000545061.1_Nonsense_Mutation_p.E1566*	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1607					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)	AGATATAATTGAGAAATACTT	0.433																																																	0													138	143	142					12																	52200089		1906	4136	6042	SO:0001587	stop_gained	0			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.4819G>T	12.37:g.52200089G>T	ENSP00000346534:p.Glu1607*		B9VWG8|O95788|Q9NYX2|Q9UPB2	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E1607*	ENST00000354534.6	37	c.4819	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	43	9.894802	0.99290	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	12.7943	0.57551	0.0744:0.0:0.9256:0.0	.	.	.	.	X	1607;1566	.	ENSP00000346534:E1607X	E	+	1	0	SCN8A	50486356	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.495000	0.73665	2.927000	0.99377	0.637000	0.83480	GAG	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.433	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3		0	48	0	G	NM_014191		52200089	1			no_errors	ENST00000354534	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T	T	52200089	G	T	52200089	4	4	142	1	0	0	0	0	0	1	0	0	13969	1291	45	3	4921	3	SCN8A	12	52200089	Nonsense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	2162154	52200089	81651806	105	36113											
KRT72	140807	genome.wustl.edu	37	chr12	52984624	52984624	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttcatagaacccacctgcTtcttcacattccctatctct	9	15	2	15	0	4	1	2	0	2	1	6	1	5	1	3	0	2	1	3	0	3	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr12:52984624T>G	ENST00000537672.2	-	6	1095	c.1085A>C	c.(1084-1086)aAg>aCg	p.K362T	KRT72_ENST00000354310.4_Intron|KRT72_ENST00000293745.2_Missense_Mutation_p.K362T|KRT72_ENST00000398066.3_Missense_Mutation_p.K174T	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	362	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)		ACCCACCTGCTTCTTCACATT	0.478																																																	0													94	90	91					12																	52984624		2203	4300	6503	SO:0001583	missense	0			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.1085A>C	12.37:g.52984624T>G	ENSP00000441160:p.Lys362Thr		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.K362T	ENST00000537672.2	37	c.1085	CCDS8833.1	12	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523878	0.64747	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000398066	T;T;D	0.89746	-0.96;-0.96;-2.56	5.14	5.14	0.70334	Filament (1);	0.000000	0.49916	D	0.000121	D	0.94089	0.8105	M	0.88704	2.975	0.29709	N	0.839556	D	0.76494	0.999	D	0.77557	0.99	D	0.90598	0.4542	10	0.51188	T	0.08	.	8.1671	0.31233	0.0:0.0729:0.1366:0.7905	.	362	Q14CN4	K2C72_HUMAN	T	362;362;174	ENSP00000441160:K362T;ENSP00000293745:K362T;ENSP00000446151:K174T	ENSP00000293745:K362T	K	-	2	0	KRT72	51270891	0.670000	0.27512	1.000000	0.80357	0.971000	0.66376	0.860000	0.27871	2.253000	0.74438	0.533000	0.62120	AAG	KRT72	-	pfam_IF	ENSG00000170486		0.478	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1		0	35	0	T	NM_080747		52984624	-1			no_errors	ENST00000293745	ensembl	human	known	74_37	missense	60.00	8	12	SNP	0.998	G	G	52984624	T	G	52984624	3	3	142	1	0	0	0	0	1	0	0	0	8512	1609	56	4	466	4	KRT72	12	52984624	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	784535	52984624	80867271	106	36114											
STARD13	90627	genome.wustl.edu	37	chr13	33704134	33704134	+	Missense_Mutation	SNP	A	A	G	1	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	gtgggaggctgctgctgacgAgtggggcatccagcatgacc	7	7	17	10	1	0	2	0	2	0	0	1	4	1	3	2	4	3	5	2	4	0	0			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr13:33704134A>G	ENST00000336934.5	-	5	796	c.680T>C	c.(679-681)cTc>cCc	p.L227P	STARD13_ENST00000255486.4_Missense_Mutation_p.L219P|STARD13_ENST00000399365.3_Missense_Mutation_p.L109P	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	227					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTGCTGACGAGTGGGGCATC	0.607																																																	0													48	53	51					13																	33704134		2203	4300	6503	SO:0001583	missense	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.680T>C	13.37:g.33704134A>G	ENSP00000338785:p.Leu227Pro		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.L227P	ENST00000336934.5	37	c.680	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	A	2.498	-0.315932	0.05422	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06528	3.3;3.29;3.3	5.7	-1.91	0.07641	.	1.854270	0.02138	N	0.056924	T	0.07413	0.0187	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.003;0.001;0.003	T	0.41556	-0.9502	10	0.33940	T	0.23	.	8.5468	0.33426	0.368:0.0:0.5157:0.1164	.	219;192;227;219	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	P	109;219;227;219	ENSP00000382300:L109P;ENSP00000255486:L219P;ENSP00000338785:L227P	ENSP00000255486:L219P	L	-	2	0	STARD13	32602134	0.002000	0.14202	0.000000	0.03702	0.125000	0.20455	1.528000	0.35985	-0.151000	0.11176	-0.408000	0.06270	CTC	STARD13	-	NULL	ENSG00000133121		0.607	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2		0	10	0	A	NM_001243466		33704134	-1			no_errors	ENST00000336934	ensembl	human	known	74_37	missense	60.00	4	6	SNP	0.000	G	G	33704134	A	G	33704134	3	3	142	1	0	0	0	0	1	0	0	0	15303	304	11	4	2701	4	STARD13	13	33704134	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09		33704134	81465744	107	36115											
SYNE2	23224	genome.wustl.edu	37	chr14	64548248	64548248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatttgctggccaatcctGctgactatgactctttgagg	7	14	10	10	0	2	3	1	3	1	0	3	3	3	3	2	2	2	2	2	2	2	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr14:64548248G>A	ENST00000344113.4	+	57	11646	c.11434G>A	c.(11434-11436)Gct>Act	p.A3812T	SYNE2_ENST00000554584.1_Missense_Mutation_p.A3845T|SYNE2_ENST00000357395.3_Missense_Mutation_p.A174T|SYNE2_ENST00000555002.1_Missense_Mutation_p.A446T|SYNE2_ENST00000394768.2_Missense_Mutation_p.A174T|SYNE2_ENST00000358025.3_Missense_Mutation_p.A3812T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3812					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)		GGCCAATCCTGCTGACTATGA	0.448																																																	0													122	107	112					14																	64548248		2203	4300	6503	SO:0001583	missense	0			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.11434G>A	14.37:g.64548248G>A	ENSP00000341781:p.Ala3812Thr		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A3812T	ENST00000344113.4	37	c.11434	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607263	0.28623	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	5.6	3.75	0.43078	.	0.341025	0.25394	N	0.030985	T	0.24736	0.0600	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.24721	0.041;0.024;0.058;0.11	B;B;B;B	0.23419	0.027;0.012;0.038;0.046	T	0.11227	-1.0596	10	0.27785	T	0.31	.	6.6568	0.22992	0.2064:0.0:0.6582:0.1355	.	174;3846;3812;3812	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	T	3812;174;3812;3845;3845;446;174	ENSP00000350719:A3812T;ENSP00000349969:A174T;ENSP00000341781:A3812T;ENSP00000452570:A3845T;ENSP00000450831:A446T;ENSP00000378249:A174T	ENSP00000261678:A3845T	A	+	1	0	SYNE2	63618001	0.018000	0.18449	0.666000	0.29783	0.982000	0.71751	0.523000	0.22925	1.508000	0.48769	0.655000	0.94253	GCT	SYNE2	-	NULL	ENSG00000054654		0.448	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2		0	45	0	G	NM_182914		64548248	1			no_errors	ENST00000358025	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.002	A	A	64548248	G	A	64548248	3	1	142	1	0	0	0	0	1	0	0	0	15493	1319	46	3	11656	3	SYNE2	14	64548248	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09		64548248	42801292	108	36116											
FLRT2	23768	genome.wustl.edu	37	chr14	86089197	86089197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctctctctcttcaccGtgatggcatacaaactcaca	9	11	7	14	1	4	1	2	1	2	0	6	1	4	1	1	2	2	3	1	2	2	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr14:86089197G>A	ENST00000330753.4	+	2	2106	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	FLRT2_ENST00000554746.1_Missense_Mutation_p.V447M	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	447	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.V447M(1)		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)		TCTCTTCACCGTGATGGCATA	0.493																																																	1	Substitution - Missense(1)	large_intestine(1)											82	75	78					14																	86089197		2203	4300	6503	SO:0001583	missense	0			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.1339G>A	14.37:g.86089197G>A	ENSP00000332879:p.Val447Met		A0AV84|B7ZLP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.V447M	ENST00000330753.4	37	c.1339	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025691	0.35701	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.59224	0.28;0.28	6.17	6.17	0.99709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66015	0.2747	N	0.21194	0.64	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59263	-0.7487	10	0.24483	T	0.36	-19.394	20.8794	0.99867	0.0:0.0:1.0:0.0	.	447	O43155	FLRT2_HUMAN	M	447;447;100	ENSP00000332879:V447M;ENSP00000451050:V447M	ENSP00000332879:V447M	V	+	1	0	FLRT2	85158950	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	8.002000	0.88514	2.941000	0.99782	0.655000	0.94253	GTG	FLRT2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185070		0.493	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1		0	36	0	G			86089197	1			no_errors	ENST00000330753	ensembl	human	known	74_37	missense	50.00	9	9	SNP	1.000	A	A	86089197	G	A	86089197	3	1	142	1	0	0	0	0	1	0	0	0	5961	1145	40	1	1341	1	FLRT2	14	86089197	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	21540949	86089197	21260343	109	36117											
MAGEL2	54551	genome.wustl.edu	37	chr15	23890550	23890550	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggagcaaaggtctcCggtgtggcaggcaggttttt	8	9	18	6	1	1	0	0	0	1	0	2	3	1	2	1	7	1	4	1	7	1	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:23890550C>T	ENST00000532292.1	-	1	625	c.531G>A	c.(529-531)ccG>ccA	p.P177P		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	60					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)		CAAAGGTCTCCGGTGTGGCAG	0.587																																																	0													56	63	61					15																	23890550		2017	4195	6212	SO:0001819	synonymous_variant	0			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.531G>A	15.37:g.23890550C>T				Silent	SNP	pfam_MAGE,pfscan_MAGE	p.P177	ENST00000532292.1	37	c.531		15	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.462186	0.01062	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.08	-6.14	0.02111	.	.	.	.	.	T	0.15652	0.0377	.	.	.	0.24552	N	0.994015	.	.	.	.	.	.	T	0.25676	-1.0125	4	.	.	.	.	0.7996	0.01072	0.3769:0.3038:0.1197:0.1996	.	.	.	.	Q	209	.	.	R	-	2	0	MAGEL2	21441643	0.000000	0.05858	0.009000	0.14445	0.035000	0.12851	-2.780000	0.00773	-1.124000	0.02936	-0.953000	0.02652	CGG	MAGEL2	-	NULL	ENSG00000254585		0.587	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2		0	38	0	C	NM_019066		23890550	-1			no_errors	ENST00000532292	ensembl	human	known	74_37	silent	43.48	13	10	SNP	0.018	T	T	23890550	C	T	23890550	2	4	142	1	0	0	0	0	0	0	0	1	9227	639	23	1		1	MAGEL2	15	23890550	Silent	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09		23890550	78640842	110	36118											
ATP8B4	79895	genome.wustl.edu	37	chr15	50264787	50264787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttctcttaccatagattCtcccattaatggaacatctt	10	17	4	10	0	3	1	0	0	3	1	5	2	3	2	2	1	2	1	2	1	4	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:50264787C>T	ENST00000284509.6	-	13	1376	c.1235G>A	c.(1234-1236)aGa>aAa	p.R412K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R412K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	412						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)	p.R412I(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACCATAGATTCTCCCATTAAT	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)											82	71	75					15																	50264787		2196	4295	6491	SO:0001583	missense	0			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1235G>A	15.37:g.50264787C>T	ENSP00000284509:p.Arg412Lys		Q9H727	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R412K	ENST00000284509.6	37	c.1235	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	2.265	-0.368350	0.05069	.	.	ENSG00000104043	ENST00000284509	T	0.63417	-0.04	5.08	-0.109	0.13584	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.726076	0.13544	N	0.379999	T	0.33440	0.0863	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.19811	-1.0294	10	0.18276	T	0.48	.	8.7319	0.34505	0.0:0.4908:0.0:0.5092	.	412	Q8TF62	AT8B4_HUMAN	K	412	ENSP00000284509:R412K	ENSP00000284509:R412K	R	-	2	0	ATP8B4	48052079	0.000000	0.05858	0.980000	0.43619	0.969000	0.65631	-0.552000	0.06020	-0.043000	0.13513	0.650000	0.86243	AGA	ATP8B4	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000104043		0.348	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1		0	68	0	C	NM_024837		50264787	-1			no_errors	ENST00000284509	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.112	T	T	50264787	C	T	50264787	3	4	142	1	0	0	0	0	1	0	0	0	1198	913	32	3	2407	3	ATP8B4	15	50264787	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	26374237	50264787	52266605	111	36119											
RAB27A	5873	genome.wustl.edu	37	chr15	55497769	55497769	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgtagaggcatgaccatttGatcgcaccactccttcagga	10	9	9	13	2	1	3	1	2	0	1	3	4	2	4	4	2	0	3	4	2	1	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:55497769G>C	ENST00000396307.2	-	6	853	c.602C>G	c.(601-603)tCa>tGa	p.S201*	RAB27A_ENST00000564609.1_Nonsense_Mutation_p.S201*|RAB27A_ENST00000336787.1_Nonsense_Mutation_p.S201*|RAB27A_ENST00000569493.1_Nonsense_Mutation_p.S201*	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	201					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ATGACCATTTGATCGCACCAC	0.473																																																	0													386	322	344					15																	55497769		2193	4292	6485	SO:0001587	stop_gained	0			U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"RAB, member RAS oncogene"	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.602C>G	15.37:g.55497769G>C	ENSP00000379601:p.Ser201*		O00195|Q6FI40|Q9UIR9|Q9Y5U3	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S201*	ENST00000396307.2	37	c.602	CCDS10153.1	15	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669790	0.88348	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	.	.	.	4.96	4.96	0.65561	.	0.475945	0.24722	N	0.036129	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-3.8429	17.3827	0.87408	0.0:0.0:1.0:0.0	.	.	.	.	X	201;193;201	.	ENSP00000337761:S201X	S	-	2	0	RAB27A	53285061	1.000000	0.71417	0.987000	0.45799	0.965000	0.64279	4.908000	0.63307	2.585000	0.87301	0.655000	0.94253	TCA	RAB27A	-	superfamily_P-loop_NTPase,smart_Ran_GTPase	ENSG00000069974		0.473	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB27A	HGNC	protein_coding	OTTHUMT00000254918.1		0	67	0	G	NM_004580, NM_183236		55497769	-1			no_errors	ENST00000336787	ensembl	human	known	74_37	nonsense	50.00	21	21	SNP	0.913	C	C	55497769	G	C	55497769	4	2	142	1	0	0	0	0	0	1	0	0	12959	1294	45	5	67	5	RAB27A	15	55497769	Nonsense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	5232982	55497769	47033623	112	36120											
FAM108C1	58489	genome.wustl.edu	37	chr15	81041946	81041946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaggtatgaatgcgcagCggtaattctccattcccctc	8	11	9	13	3	1	1	0	1	1	0	5	2	2	1	3	2	2	3	3	2	3	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:81041946C>A	ENST00000258884.4	+	2	810	c.683C>A	c.(682-684)gCg>gAg	p.A228E	ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000558464.1_Intron|ABHD17C_ENST00000560609.1_5'UTR	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	228							hydrolase activity (GO:0016787)										GAATGCGCAGCGGTAATTCTC	0.507																																																	0													162	161	161					15																	81041946		2026	4169	6195	SO:0001583	missense	0				CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"Abhydrolase domain containing"	26925	protein-coding gene	gene with protein product			"family with sequence similarity 108, member C1"	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.683C>A	15.37:g.81041946C>A	ENSP00000258884:p.Ala228Glu		Q1RMD6|Q9NPM1	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Dienelactn_hydro	p.A228E	ENST00000258884.4	37	c.683	CCDS45323.1	15	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761046	0.49468	.	.	ENSG00000136379	ENST00000258884	T	0.56444	0.46	4.19	3.25	0.37280	.	0.000000	0.64402	D	0.000001	T	0.79305	0.4423	H	0.95437	3.67	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.86047	0.1523	10	0.87932	D	0	.	14.418	0.67163	0.0:0.8518:0.1482:0.0	.	228	Q6PCB6	F108C_HUMAN	E	228	ENSP00000258884:A228E	ENSP00000258884:A228E	A	+	2	0	FAM108C1	78829001	0.999000	0.42202	0.172000	0.22920	0.047000	0.14425	4.359000	0.59449	1.076000	0.40961	0.655000	0.94253	GCG	ABHD17C	-	pfam_Peptidase_S9,pfam_Dienelactn_hydro	ENSG00000136379		0.507	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17C	HGNC	protein_coding	OTTHUMT00000417652.1		0	108	0	C	NM_021214		81041946	1			no_errors	ENST00000258884	ensembl	human	known	74_37	missense	48.98	25	24	SNP	0.997	A	A	81041946	C	A	81041946	3	1	142	1	0	0	0	0	1	0	0	0	5412	768	27	2	689	2	FAM108C1	15	81041946	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	25544177	81041946	21489446	113	36121											
KIAA1199	57214	genome.wustl.edu	37	chr15	81221382	81221382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaccttcccgtatgacGacggctccaagcaagagata	12	7	11	11	3	0	2	0	1	0	1	2	5	2	3	3	2	2	3	3	2	5	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:81221382G>T	ENST00000394685.3	+	21	2898	c.2479G>T	c.(2479-2481)Gac>Tac	p.D827Y	KIAA1199_ENST00000356249.5_Missense_Mutation_p.D827Y|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D827Y|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		827					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						CCCGTATGACGACGGCTCCAA	0.517																																																	0													135	125	129					15																	81221382		2203	4300	6503	SO:0001583	missense	0																														ENST00000394685.3:c.2479G>T	15.37:g.81221382G>T	ENSP00000378177:p.Asp827Tyr		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.D827Y	ENST00000394685.3	37	c.2479	CCDS10315.1	15	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110701	0.56398	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.60171	0.21;0.21;0.21	4.87	4.87	0.63330	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	P	0.61658	0.892	T	0.72924	-0.4144	10	0.62326	D	0.03	-25.9098	18.2156	0.89884	0.0:0.0:1.0:0.0	.	827	Q8WUJ3	K1199_HUMAN	Y	827	ENSP00000220244:D827Y;ENSP00000378177:D827Y;ENSP00000348583:D827Y	ENSP00000220244:D827Y	D	+	1	0	KIAA1199	79008437	1.000000	0.71417	0.098000	0.21074	0.125000	0.20455	8.746000	0.91604	2.518000	0.84900	0.655000	0.94253	GAC	KIAA1199	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000103888		0.517	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1		0	63	0	G			81221382	1			no_errors	ENST00000220244	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	81221382	G	T	81221382	3	4	142	1	0	0	0	0	1	0	0	0	8240	1058	37	2	2553	2	KIAA1199	15	81221382	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	179436	81221382	21310010	114	36122											
AP3B2	8120	genome.wustl.edu	37	chr15	83331462	83331462	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaccaatttcgggaaattcTtggatgctgatgccagcagg	10	10	12	9	1	1	1	0	1	1	0	2	3	1	3	2	3	3	3	2	3	2	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:83331462T>C	ENST00000261722.3	-	22	2967	c.2760A>G	c.(2758-2760)caA>caG	p.Q920Q	AP3B2_ENST00000535359.1_Silent_p.Q939Q|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.Q888Q	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	920					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CGGGAAATTCTTGGATGCTGA	0.562																																																	0													35	37	36					15																	83331462		1943	4145	6088	SO:0001819	synonymous_variant	0			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2760A>G	15.37:g.83331462T>C			A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.Q920	ENST00000261722.3	37	c.2760	CCDS45331.1	15																																																																																			AP3B2	-	superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	ENSG00000103723		0.562	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1		0	65	0	T			83331462	-1			no_errors	ENST00000261722	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.991	C	C	83331462	T	C	83331462	2	2	142	1	0	0	0	0	0	0	0	1	745	1606	56	4		4	AP3B2	15	83331462	Silent	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	2110080	83331462	19199930	115	36123											
SOLH	6650	genome.wustl.edu	37	chr16	598175	598175	+	Frame_Shift_Del	DEL	G	G	-																															gctcctggtggcccagcggcGgggggccgcgcccctgaggc																								rs559682366		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr16:598175delG	ENST00000219611.2	+	4	1700	c.1337delG	c.(1336-1338)cggfs	p.R446fs	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	446					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)										GCCCAGCGGCGGGGGGCCGCG	0.731																																																	0										28,3412		13,2,1705	4	5	5			2.2	1	16		4	53,6747		21,11,3368	no	frameshift	SOLH	NM_005632.2		34,13,5073	A1A1,A1R,RR		0.7794,0.814,0.791			598175	81,10159	2006	3911	5917	SO:0001589	frameshift_variant	0			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.1337delG	16.37:g.598175delG	ENSP00000219611:p.Arg446fs		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Frame_Shift_Del	DEL	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.A448fs	ENST00000219611.2	37	c.1337	CCDS10410.1	16																																																																																			CAPN15	-	NULL	ENSG00000103326		0.731	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	HGNC	protein_coding	OTTHUMT00000239271.1		0	8	0	G	NM_005632		598175	1			no_errors	ENST00000219611	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.996	0	-	598175	G	-	598175	7	5	142	1	0	1	0	1	0	0	0	0	14970	1116	39	0	1339	0	SOLH	16	598175	Frame_Shift_Del	DEL	G	TCGA-R6-A6L4-01A-11D-A31U-09		598175	89756578	116	36124											
GRIN2A	2903	genome.wustl.edu	37	chr16	9923493	9923493	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagcttttccaattgtaaaAgaaggcccatggggtgctgc	11	11	11	8	0	0	1	0	0	0	1	1	1	1	1	2	3	3	3	2	3	5	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr16:9923493A>C	ENST00000396573.2	-	10	2103	c.1794T>G	c.(1792-1794)tcT>tcG	p.S598S	GRIN2A_ENST00000330684.3_Silent_p.S598S|GRIN2A_ENST00000535259.1_Silent_p.S441S|GRIN2A_ENST00000404927.2_Silent_p.S598S|GRIN2A_ENST00000562109.1_Silent_p.S598S|GRIN2A_ENST00000396575.2_Silent_p.S598S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	598			S -> F (found in a cutaneous malignant melanoma sample; somatic mutation). {ECO:0000269|PubMed:21499247}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S598S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAATTGTAAAAGAAGGCCCAT	0.463																																																	1	Substitution - coding silent(1)	lung(1)											49	48	48					16																	9923493		2197	4300	6497	SO:0001819	synonymous_variant	0				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.1794T>G	16.37:g.9923493A>C			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S598	ENST00000396573.2	37	c.1794	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000183454		0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3		0	54	0	A			9923493	-1			no_errors	ENST00000330684	ensembl	human	known	74_37	silent	59.38	13	19	SNP	0.998	C	C	9923493	A	C	9923493	2	2	142	1	0	0	0	0	0	0	0	1	6806	59	3	4		4	GRIN2A	16	9923493	Silent	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	9325318	9923493	80431260	117	36125											
PLA2G10	8399	genome.wustl.edu	37	chr16	14766487	14766487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcacacttgggcgagtccgGctcacataggaactgggggt	8	8	15	10	2	2	0	2	0	0	0	3	2	3	1	1	5	1	1	1	5	2	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr16:14766487G>A	ENST00000438167.3	-	4	914	c.475C>T	c.(475-477)Ccg>Tcg	p.P159S		NM_003561.1	NP_003552.1	O15496	PA2GX_HUMAN	phospholipase A2, group X	159					arachidonic acid metabolic process (GO:0019369)|axon guidance (GO:0007411)|cholesterol homeostasis (GO:0042632)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lysophospholipid transport (GO:0051977)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|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 metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of prostaglandin secretion (GO:0032308)|regulation of macrophage activation (GO:0043030)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)|phospholipase activity (GO:0004620)										GGCGAGTCCGGCTCACATAGG	0.448																																																	0													190	172	178					16																	14766487		2197	4300	6497	SO:0001583	missense	0			U95301	CCDS10555.1	16p13.1-p12	2008-09-19			ENSG00000069764	ENSG00000069764	3.1.1.4		9029	protein-coding gene	gene with protein product		603603				9188469	Standard	NM_003561		Approved	GXPLA2	uc002dcq.3	O15496	OTTHUMG00000048069	ENST00000438167.3:c.475C>T	16.37:g.14766487G>A	ENSP00000393847:p.Pro159Ser		Q14DU3|Q6NT23	Missense_Mutation	SNP	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.P159S	ENST00000438167.3	37	c.475	CCDS10555.1	16	.	.	.	.	.	.	.	.	.	.	G	6.968	0.548647	0.13312	.	.	ENSG00000069764	ENST00000438167;ENST00000261659	T	0.25579	1.79	5.64	-11.3	0.00108	Phospholipase A2 (2);	2.401260	0.01745	N	0.029629	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.14755	-1.0461	10	0.15066	T	0.55	.	2.9996	0.06009	0.0874:0.2616:0.3136:0.3374	.	159	O15496	PA2GX_HUMAN	S	159	ENSP00000393847:P159S	ENSP00000261659:P159S	P	-	1	0	PLA2G10	14673988	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.776000	0.01781	-2.021000	0.00939	-0.227000	0.12334	CCG	PLA2G10	-	superfamily_PLipase_A2_dom	ENSG00000069764		0.448	PLA2G10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G10	HGNC	protein_coding	OTTHUMT00000109393.3		0	123	0	G	NM_003561		14766487	-1			no_errors	ENST00000438167	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	A	A	14766487	G	A	14766487	3	1	142	1	0	0	0	0	1	0	0	0	12028	1203	42	3	26	3	PLA2G10	16	14766487	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	4842994	14766487	75588266	118	36126											
NOD2	64127	genome.wustl.edu	37	chr16	50733865	50733865	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcttcacaccgtcccagagGgtgaggcactcctggtgtgc	7	9	12	13	1	2	2	1	1	1	1	4	2	4	2	3	3	1	1	3	3	0	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr16:50733865G>A	ENST00000300589.2	+	2	645	c.540G>A	c.(538-540)agG>agA	p.R180R	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	180	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGTCCCAGAGGGTGAGGCACT	0.537																																																	0													62	51	55					16																	50733865		2198	4300	6498	SO:0001630	splice_region_variant	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.540+1G>A	16.37:g.50733865G>A			E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.R180	ENST00000300589.2	37	c.540	CCDS10746.1	16																																																																																			NOD2	-	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	ENSG00000167207		0.537	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2		0	38	0	G	NM_022162	Silent	50733865	1			no_errors	ENST00000300589	ensembl	human	known	74_37	silent	47.62	11	10	SNP	1.000	A	A	50733865	G	A	50733865	5	1	142	1	0	0	0	0	0	0	1	0	10556	1246	43	3	546	3	NOD2	16	50733865	Splice_Site	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	35967378	50733865	39620888	119	36127											
HYDIN	54768	genome.wustl.edu	37	chr16	70917868	70917868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgtaaagaatgccggcagGgtggactgcagggtctcggc	9	7	17	8	2	1	1	0	0	1	1	2	2	1	2	1	5	2	3	1	5	3	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr16:70917868G>T	ENST00000393567.2	-	59	10084	c.9934C>A	c.(9934-9936)Cct>Act	p.P3312T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3312					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)				ATGCCGGCAGGGTGGACTGCA	0.522																																																	0													53	57	56					16																	70917868		1961	4157	6118	SO:0001583	missense	0			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.9934C>A	16.37:g.70917868G>T	ENSP00000377197:p.Pro3312Thr		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.P3312T	ENST00000393567.2	37	c.9934	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719248	0.30503	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01133	5.29	5.01	5.01	0.66863	.	0.000000	0.33023	U	0.005375	T	0.02807	0.0084	M	0.65975	2.015	0.80722	D	1	P	0.39903	0.694	B	0.43867	0.434	T	0.54669	-0.8259	10	0.48119	T	0.1	.	13.6469	0.62288	0.0:0.1554:0.8446:0.0	.	3311	F8WD23	.	T	3312;3311	ENSP00000377197:P3312T	ENSP00000313052:P3311T	P	-	1	0	HYDIN	69475369	1.000000	0.71417	0.081000	0.20488	0.008000	0.06430	5.610000	0.67668	2.325000	0.78763	0.511000	0.50034	CCT	HYDIN	-	NULL	ENSG00000157423		0.522	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3		0	35	0	G			70917868	-1			no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	44.00	14	11	SNP	0.944	T	T	70917868	G	T	70917868	3	4	142	1	0	0	0	0	1	0	0	0	7494	1232	43	3	5543	3	HYDIN	16	70917868	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	20184003	70917868	19436885	120	36128											
ZFHX3	463	genome.wustl.edu	37	chr16	72984417	72984417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagttgaccgtgtgcagcCgcagcttctccaggctgttg	5	11	14	11	2	1	1	0	1	1	0	2	2	1	2	3	2	3	6	3	2	0	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr16:72984417C>T	ENST00000268489.5	-	3	3839	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R142Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1056					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)				CGTGTGCAGCCGCAGCTTCTC	0.587																																																	0													73	62	66					16																	72984417		2198	4300	6498	SO:0001583	missense	0			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.3167G>A	16.37:g.72984417C>T	ENSP00000268489:p.Arg1056Gln		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.R1056Q	ENST00000268489.5	37	c.3167	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485800	0.84854	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.54279	0.58;0.58	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);	0.000000	0.47093	D	0.000246	T	0.63200	0.2491	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.55915	-0.8065	10	0.18276	T	0.48	.	18.9874	0.92777	0.0:1.0:0.0:0.0	.	1056	Q15911	ZFHX3_HUMAN	Q	1056;142	ENSP00000268489:R1056Q;ENSP00000438926:R142Q	ENSP00000268489:R1056Q	R	-	2	0	ZFHX3	71541918	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.436000	0.80404	2.472000	0.83506	0.650000	0.86243	CGG	ZFHX3	-	smart_Znf_C2H2-like	ENSG00000140836		0.587	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1		0	35	0	C	NM_006885		72984417	-1			no_errors	ENST00000268489	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T	T	72984417	C	T	72984417	3	4	142	1	0	0	0	0	1	0	0	0	17682	652	23	1	7976	1	ZFHX3	16	72984417	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	2066549	72984417	17370336	121	36129											
NEURL4	84461	genome.wustl.edu	37	chr17	7224748	7224748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgtgcatcgtgtcatctgCcccccgacgaacacccacac	9	7	8	17	3	2	0	1	0	1	0	3	3	2	0	4	0	3	1	4	0	1	0			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:7224748C>T	ENST00000399464.2	-	19	3145	c.3130G>A	c.(3130-3132)Gca>Aca	p.A1044T	NEURL4_ENST00000570460.1_Missense_Mutation_p.A1020T|NEURL4_ENST00000315614.7_Missense_Mutation_p.A1042T|NEURL4_ENST00000574120.1_5'Flank|RP11-542C16.2_ENST00000575474.1_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1044	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						GTGTCATCTGCCCCCCGACGA	0.617																																																	0													100	109	106					17																	7224748		2142	4233	6375	SO:0001583	missense	0				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.3130G>A	17.37:g.7224748C>T	ENSP00000382390:p.Ala1044Thr		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z	p.A1044T	ENST00000399464.2	37	c.3130	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387533	0.25031	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.29917	1.56;1.55	5.14	3.12	0.35913	NEUZ (1);	0.367706	0.27715	N	0.018158	T	0.16342	0.0393	N	0.19112	0.55	0.30331	N	0.786698	B;B	0.24426	0.103;0.063	B;B	0.22386	0.039;0.017	T	0.15464	-1.0436	10	0.17369	T	0.5	-6.4658	7.6331	0.28251	0.0:0.7296:0.0:0.2704	.	1042;1044	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	T	1042;1044	ENSP00000319826:A1042T;ENSP00000382390:A1044T	ENSP00000319826:A1042T	A	-	1	0	NEURL4	7165472	0.427000	0.25514	0.990000	0.47175	0.989000	0.77384	0.520000	0.22878	1.133000	0.42147	0.563000	0.77884	GCA	NEURL4	-	pfscan_Neu_Z	ENSG00000215041		0.617	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	HGNC	protein_coding	OTTHUMT00000255434.2		0	23	0	C	NM_032442		7224748	-1			no_errors	ENST00000399464	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.993	T	T	7224748	C	T	7224748	3	4	142	1	0	0	0	0	1	0	0	0	10386	739	26	3	1602	3	NEURL4	17	7224748	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09		7224748	73970462	122	36130											
TP53	7157	genome.wustl.edu	37	chr17	7578526	7578526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ggcaggtcttggccagttggCaaaacatcttgttgagggca	9	10	14	8	0	2	1	0	1	2	0	2	1	2	1	1	5	1	5	1	5	2	4	rs587781991		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:7578526C>A	ENST00000269305.4	-	5	593	c.404G>T	c.(403-405)tGc>tTc	p.C135F	TP53_ENST00000413465.2_Missense_Mutation_p.C135F|TP53_ENST00000455263.2_Missense_Mutation_p.C135F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C135F|TP53_ENST00000420246.2_Missense_Mutation_p.C135F|TP53_ENST00000359597.4_Missense_Mutation_p.C135F	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	135	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).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(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)	GGCCAGTTGGCAAAACATCTT	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"	152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)											50	50	50					17																	7578526		2203	4300	6503	SO:0001583	missense	0	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.404G>T	17.37:g.7578526C>A	ENSP00000269305:p.Cys135Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C135F	ENST00000269305.4	37	c.404	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574878	0.86542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.997;1.0;0.904;1.0;1.0;1.0;1.0	D	0.97349	0.9962	10	0.72032	D	0.01	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135F;ENSP00000352610:C135F;ENSP00000269305:C135F;ENSP00000398846:C135F;ENSP00000391127:C135F;ENSP00000391478:C135F;ENSP00000425104:C3F;ENSP00000423862:C42F;ENSP00000424104:C135F	ENSP00000269305:C135F	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	41	0	C	NM_000546		7578526	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	40.00	9	6	SNP	1.000	A	A	7578526	C	A	7578526	3	1	142	1	0	0	0	0	1	0	0	0	16429	710	25	3	894	3	TP53	17	7578526	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	353778	7578526	73616684	123	36131											
CHD3	1107	genome.wustl.edu	37	chr17	7797888	7797888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccttgatcctgagcttGaccgggctccagagggcaaa	8	9	12	12	1	1	4	0	3	1	1	3	4	3	4	4	2	2	3	4	2	1	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:7797888G>T	ENST00000330494.7	+	8	1381	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y	CHD3_ENST00000358181.4_Missense_Mutation_p.D411Y|CHD3_ENST00000380358.4_Missense_Mutation_p.D470Y	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	411					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)				TCCTGAGCTTGACCGGGCTCC	0.572																																																	0													142	109	120					17																	7797888		2203	4300	6503	SO:0001583	missense	0			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.1231G>T	17.37:g.7797888G>T	ENSP00000332628:p.Asp411Tyr		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D411Y	ENST00000330494.7	37	c.1231	CCDS32554.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.215628|3.215628	0.58452|0.58452	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000452447	D;D;D|.	0.94138|.	-3.36;-3.36;-3.36|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.47455|.	D|.	0.000227|.	T|.	0.73946|.	0.3652|.	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D|.	0.65815|.	0.983;0.986;0.995|.	P;P;D|.	0.63283|.	0.804;0.876;0.913|.	T|.	0.73304|.	-0.4025|.	10|.	0.87932|.	D|.	0|.	-28.0882|-28.0882	18.0617|18.0617	0.89379|0.89379	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	411;411;470|.	Q12873-2;Q12873;E9PG89|.	.;CHD3_HUMAN;.|.	Y|L	470;411;411|281	ENSP00000369716:D470Y;ENSP00000350907:D411Y;ENSP00000332628:D411Y|.	ENSP00000332628:D411Y|.	D|X	+|+	1|2	0|2	CHD3|CHD3	7738613|7738613	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.537000|9.537000	0.98070|0.98070	2.499000|2.499000	0.84300|0.84300	0.557000|0.557000	0.71058|0.71058	GAC|TGA	CHD3	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000170004		0.572	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1		0	32	0	G	NM_001005273		7797888	1			no_errors	ENST00000330494	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	7797888	G	T	7797888	3	4	142	1	0	0	0	0	1	0	0	0	3333	1290	45	3	1542	3	CHD3	17	7797888	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	219362	7797888	73397322	124	36132											
DNAH9	1770	genome.wustl.edu	37	chr17	11659897	11659897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctccaggtgctgacattgGccagcaatgagaggattcct	9	10	12	10	0	1	2	0	2	1	1	3	4	2	3	3	3	2	2	3	3	1	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:11659897G>A	ENST00000262442.4	+	34	6819	c.6751G>A	c.(6751-6753)Gcc>Acc	p.A2251T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2251T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2251	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTGACATTGGCCAGCAATGA	0.547																																																	0													132	127	129					17																	11659897		2203	4300	6503	SO:0001583	missense	0			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.6751G>A	17.37:g.11659897G>A	ENSP00000262442:p.Ala2251Thr		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2251T	ENST00000262442.4	37	c.6751	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983077	0.93044	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.55234	0.53;0.53	5.89	4.91	0.64330	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.062486	0.64402	D	0.000005	T	0.72053	0.3413	M	0.76727	2.345	0.80722	D	1	D	0.60575	0.988	D	0.68192	0.956	T	0.76751	-0.2844	10	0.87932	D	0	.	16.455	0.84009	0.0:0.0:0.8676:0.1324	.	2251	Q9NYC9	DYH9_HUMAN	T	2251;2251;833	ENSP00000262442:A2251T;ENSP00000414874:A2251T	ENSP00000262442:A2251T	A	+	1	0	DNAH9	11600622	1.000000	0.71417	0.997000	0.53966	0.844000	0.47949	8.011000	0.88624	1.483000	0.48342	0.585000	0.79938	GCC	DNAH9	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000007174		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0	47	0	G	NM_001372		11659897	1			no_errors	ENST00000262442	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	A	A	11659897	G	A	11659897	3	1	142	1	0	0	0	0	1	0	0	0	4622	1203	42	3	6885	3	DNAH9	17	11659897	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	3862009	11659897	69535313	125	36133											
TRPV2	51393	genome.wustl.edu	37	chr17	16335477	16335477	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttccaggagcagctgcacTtccgcggcatggtgctgctg	5	9	13	14	2	0	0	0	0	0	0	2	1	2	1	3	3	5	6	3	3	0	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:16335477T>G	ENST00000338560.7	+	12	2251	c.1852T>G	c.(1852-1854)Ttc>Gtc	p.F618V	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.F188V	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	618					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)		GCAGCTGCACTTCCGCGGCAT	0.612																																																	0													79	74	76					17																	16335477		2203	4300	6503	SO:0001583	missense	0			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.1852T>G	17.37:g.16335477T>G	ENSP00000342222:p.Phe618Val		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.F618V	ENST00000338560.7	37	c.1852	CCDS32576.1	17	.	.	.	.	.	.	.	.	.	.	T	13.14	2.149062	0.37923	.	.	ENSG00000187688	ENST00000338560	D	0.87571	-2.27	4.81	4.81	0.61882	Ion transport (1);	0.210041	0.51477	D	0.000092	D	0.91640	0.7358	M	0.71206	2.165	0.41678	D	0.989271	D	0.55172	0.97	P	0.62298	0.9	D	0.92513	0.6018	10	0.62326	D	0.03	-23.6506	13.5891	0.61948	0.0:0.0:0.0:1.0	.	618	Q9Y5S1	TRPV2_HUMAN	V	618	ENSP00000342222:F618V	ENSP00000342222:F618V	F	+	1	0	TRPV2	16276202	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	4.743000	0.62110	1.820000	0.53075	0.369000	0.22263	TTC	TRPV2	-	prints_TRPV1-4_channel,tigrfam_TRP_channel	ENSG00000187688		0.612	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2		0	20	0	T	NM_016113		16335477	1			no_errors	ENST00000338560	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.884	G	G	16335477	T	G	16335477	3	3	142	1	0	0	0	0	1	0	0	0	16644	1609	56	4	1894	4	TRPV2	17	16335477	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	4675580	16335477	64859733	126	36134											
NF1	4763	genome.wustl.edu	37	chr17	29559830	29559830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ggaggctggcatcactgaggCactgtacggtccttgcaatg	8	9	14	10	1	1	1	1	1	0	0	2	2	2	2	1	5	2	5	1	5	2	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:29559830C>T	ENST00000358273.4	+	26	3810	c.3427C>T	c.(3427-3429)Cac>Tac	p.H1143Y	NF1_ENST00000356175.3_Missense_Mutation_p.H1143Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1143					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCACTGAGGCACTGTACGGT	0.443			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	GRCh37	CS031791	NF1	S							118	97	104					17																	29559830		2203	4300	6503	SO:0001583	missense	0	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.3427C>T	17.37:g.29559830C>T	ENSP00000351015:p.His1143Tyr		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.H1143Y	ENST00000358273.4	37	c.3427	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045573	0.93685	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.08984	3.2;3.34;3.03	5.55	5.55	0.83447	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	N	0.08118	0	0.80722	D	1	D;P;P;P	0.53151	0.958;0.687;0.908;0.937	P;B;D;P	0.64144	0.558;0.173;0.922;0.579	T	0.33163	-0.9879	10	0.72032	D	0.01	.	19.4952	0.95069	0.0:1.0:0.0:0.0	.	1143;193;1143;1143	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	Y	1143;1143;809	ENSP00000351015:H1143Y;ENSP00000348498:H1143Y;ENSP00000389907:H809Y	ENSP00000348498:H1143Y	H	+	1	0	NF1	26583956	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.434000	0.80377	2.612000	0.88384	0.555000	0.69702	CAC	NF1	-	superfamily_ARM-type_fold	ENSG00000196712		0.443	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2		0	52	0	C	NM_000267		29559830	1			no_errors	ENST00000358273	ensembl	human	known	74_37	missense	29.55	31	13	SNP	1.000	T	T	29559830	C	T	29559830	3	4	142	1	0	0	0	0	1	0	0	0	10395	710	25	3	3590	3	NF1	17	29559830	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	13224353	29559830	51635380	127	36135											
NR1D1	9572	genome.wustl.edu	37	chr17	38251254	38251254	+	Silent	SNP	G	G	A	0	0	1	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	aggtcacggaagcccgggatGtgtttggcaaactctaccac	10	8	12	11	2	2	0	1	0	1	0	2	2	2	2	2	4	3	2	2	4	3	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:38251254G>A	ENST00000246672.3	-	6	1998	c.1368C>T	c.(1366-1368)caC>caT	p.H456H		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	456	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)					AGCCCGGGATGTGTTTGGCAA	0.552																																																	0													88	72	77					17																	38251254		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1368C>T	17.37:g.38251254G>A			Q0P5Z4|Q15304	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.H456	ENST00000246672.3	37	c.1368	CCDS11361.1	17																																																																																			NR1D1	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000126368		0.552	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1		0	69	0	G			38251254	-1			no_errors	ENST00000246672	ensembl	human	known	74_37	silent	18.75	26	6	SNP	1.000	A	A	38251254	G	A	38251254	2	1	142	1	0	0	0	0	0	0	0	1	10654	1368	48	3		3	NR1D1	17	38251254	Silent	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	8691424	38251254	42943956	128	36136											
CASC3	22794	genome.wustl.edu	37	chr17	38318023	38318023	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgaagaaggtgaataCagtgaagaggaaaactccaa	18	5	13	5	0	0	5	0	3	0	2	1	6	1	6	1	3	2	0	1	3	8	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:38318023C>T	ENST00000264645.7	+	4	541	c.315C>T	c.(313-315)taC>taT	p.Y105Y		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	105					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						AAGGTGAATACAGTGAAGAGG	0.433																																																	0													84	86	85					17																	38318023		2203	4300	6503	SO:0001819	synonymous_variant	0			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.315C>T	17.37:g.38318023C>T			A8K8R0	Silent	SNP	pfam_Btz_dom	p.Y105	ENST00000264645.7	37	c.315	CCDS11362.1	17																																																																																			CASC3	-	NULL	ENSG00000108349		0.433	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC3	HGNC	protein_coding	OTTHUMT00000257127.3		0	39	0	C	NM_007359		38318023	1			no_errors	ENST00000264645	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.999	T	T	38318023	C	T	38318023	2	4	142	1	0	0	0	0	0	0	0	1	2668	489	17	3		3	CASC3	17	38318023	Silent	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	66769	38318023	42877187	129	36137											
KRT20	54474	genome.wustl.edu	37	chr17	39036389	39036389	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttggcctcttgaaggttcTtctgggccatgacttcatac	6	15	9	11	0	4	2	1	2	3	0	4	2	4	2	2	3	1	1	2	3	2	6			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:39036389T>A	ENST00000167588.3	-	4	796	c.755A>T	c.(754-756)aAg>aTg	p.K252M		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	252	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTGAAGGTTCTTCTGGGCCAT	0.468																																																	0													215	187	196					17																	39036389		2203	4300	6503	SO:0001583	missense	0			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.755A>T	17.37:g.39036389T>A	ENSP00000167588:p.Lys252Met		B2R6W7	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.K252M	ENST00000167588.3	37	c.755	CCDS11379.1	17	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461986	0.84425	.	.	ENSG00000171431	ENST00000167588	D	0.89939	-2.59	5.29	5.29	0.74685	Filament (1);	0.280099	0.30219	N	0.010129	D	0.96056	0.8715	H	0.95079	3.62	0.46609	D	0.999129	D	0.89917	1.0	D	0.72338	0.977	D	0.97305	0.9933	10	0.87932	D	0	.	15.2204	0.73306	0.0:0.0:0.0:1.0	.	252	P35900	K1C20_HUMAN	M	252	ENSP00000167588:K252M	ENSP00000167588:K252M	K	-	2	0	KRT20	36289915	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.538000	0.82048	1.999000	0.58509	0.402000	0.26972	AAG	KRT20	-	pfam_IF	ENSG00000171431		0.468	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	HGNC	protein_coding	OTTHUMT00000257202.2		0	37	0	T			39036389	-1			no_errors	ENST00000167588	ensembl	human	known	74_37	missense	54.84	14	17	SNP	1.000	A	A	39036389	T	A	39036389	3	1	142	1	0	0	0	0	1	0	0	0	8485	1609	56	5	539	5	KRT20	17	39036389	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	718366	39036389	42158821	130	36138											
KRT23	25984	genome.wustl.edu	37	chr17	39086215	39086215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatggtgcttcttcatgaGaatgagctctttcctcattc	7	16	7	11	0	5	2	3	2	2	1	7	3	6	2	1	1	2	2	1	1	1	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:39086215G>A	ENST00000209718.3	-	4	1037	c.613C>T	c.(613-615)Ctc>Ttc	p.L205F	KRT23_ENST00000436344.3_Missense_Mutation_p.L68F|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	205	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TTCTTCATGAGAATGAGCTCT	0.498																																																	0													298	218	245					17																	39086215		2203	4300	6503	SO:0001583	missense	0			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.613C>T	17.37:g.39086215G>A	ENSP00000209718:p.Leu205Phe		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.L205F	ENST00000209718.3	37	c.613	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459392	0.26248	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.85171	-1.95;-1.95	5.74	5.74	0.90152	Filament (1);	0.000000	0.48286	D	0.000189	T	0.69333	0.3099	N	0.10664	0.02	0.35438	D	0.794648	P	0.39094	0.659	B	0.38880	0.284	T	0.72988	-0.4124	10	0.07644	T	0.81	.	13.1751	0.59621	0.0729:0.0:0.9271:0.0	.	205	Q9C075	K1C23_HUMAN	F	205;68	ENSP00000209718:L205F;ENSP00000414056:L68F	ENSP00000209718:L205F	L	-	1	0	KRT23	36339741	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	3.748000	0.55142	2.714000	0.92807	0.460000	0.39030	CTC	KRT23	-	pfam_IF	ENSG00000108244		0.498	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1		0	55	0	G			39086215	-1			no_errors	ENST00000209718	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	39086215	G	A	39086215	3	1	142	1	0	0	0	0	1	0	0	0	8487	942	33	3	679	3	KRT23	17	39086215	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	49826	39086215	42108995	131	36139											
KRT9	3857	genome.wustl.edu	37	chr17	39724612	39724612	+	Missense_Mutation	SNP	T	T	C	0	1	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	agtagcggttcttcgtgtctTccaagctcttctccagagct	6	14	9	12	2	4	1	0	0	4	1	7	1	5	1	2	1	3	4	2	1	2	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:39724612T>C	ENST00000246662.4	-	6	1261	c.1196A>G	c.(1195-1197)gAa>gGa	p.E399G	KRT9_ENST00000588431.1_Missense_Mutation_p.E166G	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	399	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTTCGTGTCTTCCAAGCTCTT	0.522																																																	0													115	114	115					17																	39724612		2203	4300	6503	SO:0001583	missense	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1196A>G	17.37:g.39724612T>C	ENSP00000246662:p.Glu399Gly		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.E399G	ENST00000246662.4	37	c.1196	CCDS32654.1	17	.	.	.	.	.	.	.	.	.	.	T	13.12	2.143249	0.37825	.	.	ENSG00000171403	ENST00000246662	D	0.88354	-2.37	5.03	3.93	0.45458	Filament (1);	0.000000	0.33290	N	0.005077	D	0.89403	0.6705	L	0.41906	1.305	0.26843	N	0.968338	D	0.53312	0.959	P	0.57846	0.828	T	0.82723	-0.0316	10	0.46703	T	0.11	.	11.8701	0.52515	0.0:0.0:0.4298:0.5701	.	399	P35527	K1C9_HUMAN	G	399	ENSP00000246662:E399G	ENSP00000246662:E399G	E	-	2	0	KRT9	36978138	0.034000	0.19679	0.978000	0.43139	0.788000	0.44548	0.071000	0.14594	0.716000	0.32124	0.386000	0.25728	GAA	KRT9	-	pfam_IF	ENSG00000171403		0.522	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1		0	67	0	T	NM_000226		39724612	-1			no_errors	ENST00000246662	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.842	C	C	39724612	T	C	39724612	3	2	142	1	0	0	0	0	1	0	0	0	8528	1783	62	4	683	4	KRT9	17	39724612	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	638397	39724612	41470598	132	36140											
MAPT	4137	genome.wustl.edu	37	chr17	44060543	44060543	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactgcgtatctccacacaGagcctgaaagtggtaaggtg	11	8	11	11	1	1	2	0	1	1	1	2	2	1	2	3	2	2	2	3	2	3	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:44060543G>C	ENST00000571987.1	+	5	373		c.e5-1		MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000344290.5_Splice_Site|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Splice_Site|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Splice_Site|MAPT_ENST00000570299.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau						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)	TCTCCACACAGAGCCTGAAAG	0.657																																																	0													23	20	21					17																	44060543		2203	4299	6502	SO:0001630	splice_region_variant	0			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.374-1G>C	17.37:g.44060543G>C			P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Splice_Site	SNP	-	e5-1	ENST00000571987.1	37	c.374-1	CCDS11501.1	17	.	.	.	.	.	.	.	.	.	.	G	7.586	0.669657	0.14776	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	.	.	.	5.15	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4869	0.22093	0.0964:0.1854:0.7182:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPT	41416380	0.030000	0.19436	0.023000	0.16930	0.008000	0.06430	1.580000	0.36547	1.183000	0.42943	-0.225000	0.12378	.	MAPT	-	-	ENSG00000186868		0.657	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1		0	47	0	G	NM_016835	Intron	44060543	1			no_errors	ENST00000344290	ensembl	human	known	74_37	splice_site	33.33	10	5	SNP	0.001	C	C	44060543	G	C	44060543	5	2	142	1	0	0	0	0	0	0	1	0	9335	956	33	5	391	5	MAPT	17	44060543	Splice_Site	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	4335931	44060543	37134667	133	36141											
PNPO	55163	genome.wustl.edu	37	chr17	46024062	46024062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	atgaccggatagtctttcggCggggcctacccacaggagat	9	8	13	11	3	1	2	0	1	1	1	2	4	1	3	3	5	1	0	3	5	2	3	rs368943864		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:46024062C>T	ENST00000225573.4	+	7	805	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	PNPO_ENST00000534893.1_Missense_Mutation_p.R139W|RP11-6N17.6_ENST00000580372.1_RNA|PNPO_ENST00000544840.1_Missense_Mutation_p.R216W|PNPO_ENST00000434554.2_Missense_Mutation_p.R191W|RP11-6N17.9_ENST00000582262.1_RNA|RP11-6N17.6_ENST00000582142.1_RNA	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	234					pyridoxine biosynthetic process (GO:0008615)|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)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)	p.R234W(1)		endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						AGTCTTTCGGCGGGGCCTACC	0.577											OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	endometrium(1)											70	72	72					17																	46024062		2203	4300	6503	SO:0001583	missense	0			AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"pyridoxine 5'-phosphate oxidase"			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.700C>T	17.37:g.46024062C>T	ENSP00000225573:p.Arg234Trp	936	B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase	p.R234W	ENST00000225573.4	37	c.700	CCDS11522.1	17	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513906	0.64522	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840;ENST00000534893	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	5.22	-4.03	0.04021	Pyridoxine 5&apos (1);FMN-binding split barrel-related (1);-phosphate oxidase, dimerisation, C-terminal (1);FMN-binding split barrel (1);	0.118364	0.53938	D	0.000053	D	0.88588	0.6477	M	0.86805	2.84	0.34850	D	0.741586	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.975;0.993;0.969	D	0.90662	0.4591	10	0.87932	D	0	-8.368	15.2143	0.73250	0.6923:0.3077:0.0:0.0	.	191;216;234	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	W	234;191;216;139	ENSP00000225573:R234W;ENSP00000399960:R191W;ENSP00000446182:R216W;ENSP00000437480:R139W	ENSP00000225573:R234W	R	+	1	2	PNPO	43379061	0.220000	0.23631	0.017000	0.16124	0.211000	0.24417	0.168000	0.16622	-0.361000	0.08125	-0.314000	0.08810	CGG	PNPO	-	pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase	ENSG00000108439		0.577	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPO	HGNC	protein_coding	OTTHUMT00000441407.1		0	74	0	C	NM_018129		46024062	1			no_errors	ENST00000225573	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.016	T	T	46024062	C	T	46024062	3	4	142	1	0	0	0	0	1	0	0	0	12211	759	27	1	726	1	PNPO	17	46024062	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	1963519	46024062	35171148	134	36142											
LIMD2	80774	genome.wustl.edu	37	chr17	61776262	61776262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cacggtcttctggcaggcggCgcaggtctccttcacctggg	4	9	14	14	3	4	0	1	0	3	0	5	0	4	0	2	6	0	2	2	6	0	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:61776262C>T	ENST00000259006.3	-	4	279	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	LIMD2_ENST00000578402.1_Missense_Mutation_p.A41T|LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000578061.1_Missense_Mutation_p.A41T|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000582055.1_5'UTR	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	41	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						TGGCAGGCGGCGCAGGTCTCC	0.632																																																	0													60	62	61					17																	61776262		2203	4300	6503	SO:0001583	missense	0			AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.121G>A	17.37:g.61776262C>T	ENSP00000259006:p.Ala41Thr		D3DU16|Q96S91	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A41T	ENST00000259006.3	37	c.121	CCDS11641.1	17	.	.	.	.	.	.	.	.	.	.	C	4.203	0.036330	0.08148	.	.	ENSG00000136490	ENST00000259006	D	0.88741	-2.42	4.53	0.256	0.15567	Zinc finger, LIM-type (5);	0.541906	0.19623	N	0.109866	T	0.76054	0.3934	L	0.28776	0.89	0.21473	N	0.999677	B	0.02656	0.0	B	0.04013	0.001	T	0.56768	-0.7924	10	0.16896	T	0.51	-13.2895	3.1145	0.06370	0.3102:0.2937:0.0:0.3961	.	41	Q9BT23	LIMD2_HUMAN	T	41	ENSP00000259006:A41T	ENSP00000259006:A41T	A	-	1	0	LIMD2	59129994	0.002000	0.14202	0.004000	0.12327	0.990000	0.78478	-0.041000	0.12084	-0.052000	0.13311	0.462000	0.41574	GCC	LIMD2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000136490		0.632	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD2	HGNC	protein_coding	OTTHUMT00000443877.1		0	9	0	C	NM_030576		61776262	-1			no_errors	ENST00000259006	ensembl	human	known	74_37	missense	50.00	3	3	SNP	0.004	T	T	61776262	C	T	61776262	3	4	142	1	0	0	0	0	1	0	0	0	8828	768	27	1	270	1	LIMD2	17	61776262	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	15752200	61776262	19418948	135	36143											
ABCA6	23460	genome.wustl.edu	37	chr17	67125841	67125841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttatgataattgtaacGaatatggaaataataaagat	20	13	7	1	1	0	2	0	1	0	1	0	4	0	3	0	1	1	2	0	1	10	7	rs531506351		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:67125841G>T	ENST00000284425.2	-	7	1017	c.843C>A	c.(841-843)ttC>ttA	p.F281L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	281					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)					TAATTGTAACGAATATGGAAA	0.284																																																	0													72	77	75					17																	67125841		2203	4296	6499	SO:0001583	missense	0			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.843C>A	17.37:g.67125841G>T	ENSP00000284425:p.Phe281Leu		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F281L	ENST00000284425.2	37	c.843	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.931571	0.00488	.	.	ENSG00000154262	ENST00000284425	D	0.85171	-1.95	5.6	1.67	0.24075	.	1.358490	0.04814	N	0.435661	T	0.68348	0.2991	N	0.16708	0.43	0.24037	N	0.9961	B	0.09022	0.002	B	0.12156	0.007	T	0.58142	-0.7688	10	0.02654	T	1	.	1.7756	0.03021	0.1264:0.2474:0.4083:0.2179	.	281	Q8N139	ABCA6_HUMAN	L	281	ENSP00000284425:F281L	ENSP00000284425:F281L	F	-	3	2	ABCA6	64637436	0.959000	0.32827	0.284000	0.24805	0.015000	0.08874	0.210000	0.17455	0.637000	0.30526	0.650000	0.86243	TTC	ABCA6	-	NULL	ENSG00000154262		0.284	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1		0	44	0	G	NM_080284		67125841	-1			no_errors	ENST00000284425	ensembl	human	known	74_37	missense	36.36	14	8	SNP	0.114	T	T	67125841	G	T	67125841	3	4	142	1	0	0	0	0	1	0	0	0	36	1049	37	2	4142	2	ABCA6	17	67125841	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	5349579	67125841	14069369	136	36144											
CCDC57	284001	genome.wustl.edu	37	chr17	80156227	80156227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcaccgtcgagctcctcaAgttttctctccagtgtccat	6	13	7	15	2	3	0	2	0	1	0	8	1	6	0	4	0	1	3	4	0	1	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:80156227A>G	ENST00000389641.4	-	3	515	c.479T>C	c.(478-480)cTt>cCt	p.L160P	CCDC57_ENST00000392347.1_Missense_Mutation_p.L160P|CCDC57_ENST00000392343.3_Missense_Mutation_p.L160P			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	160										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)			GAGCTCCTCAAGTTTTCTCTC	0.488																																																	0													97	95	95					17																	80156227		1854	4101	5955	SO:0001583	missense	0			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.479T>C	17.37:g.80156227A>G	ENSP00000374292:p.Leu160Pro		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	NULL	p.L160P	ENST00000389641.4	37	c.479		17	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557458	0.45590	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.32272	2.64;2.64;1.46	5.28	5.28	0.74379	.	0.197109	0.32785	N	0.005654	T	0.52041	0.1710	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.54417	-0.8297	10	0.66056	D	0.02	-14.8187	13.1426	0.59442	1.0:0.0:0.0:0.0	.	160;160	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	P	160	ENSP00000374292:L160P;ENSP00000376158:L160P;ENSP00000376154:L160P	ENSP00000374292:L160P	L	-	2	0	CCDC57	77749516	0.992000	0.36948	0.136000	0.22124	0.229000	0.25112	6.644000	0.74338	1.993000	0.58246	0.533000	0.62120	CTT	CCDC57	-	NULL	ENSG00000176155		0.488	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3		0	33	0	A	NM_198082		80156227	-1			no_errors	ENST00000389641	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.595	G	G	80156227	A	G	80156227	3	3	142	1	0	0	0	0	1	0	0	0	2834	72	3	4	2328	4	CCDC57	17	80156227	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	13030386	80156227	1038983	137	36145											
CHST9	83539	genome.wustl.edu	37	chr18	24496546	24496546	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggacggtgggaatccagcaAgtagtggataaactctttga	12	10	13	6	1	1	1	0	1	1	0	2	4	2	4	1	4	2	2	1	4	5	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr18:24496546A>C	ENST00000284224.8	-	6	1286	c.1009T>G	c.(1009-1011)Ttg>Gtg	p.L337V	CHST9_ENST00000581714.1_Missense_Mutation_p.L337V|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	337					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)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GAATCCAGCAAGTAGTGGATA	0.398																																																	0													134	128	130					18																	24496546		1900	4114	6014	SO:0001583	missense	0			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1009T>G	18.37:g.24496546A>C	ENSP00000284224:p.Leu337Val		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	pfam_Sulfotransferase	p.L337V	ENST00000284224.8	37	c.1009	CCDS42422.1	18	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057731	0.36277	.	.	ENSG00000154080	ENST00000284224	T	0.73789	-0.78	6.17	1.23	0.21249	.	0.000000	0.53938	D	0.000045	T	0.78960	0.4366	L	0.52364	1.645	0.80722	D	1	P	0.47191	0.891	P	0.61874	0.895	T	0.77590	-0.2531	10	0.87932	D	0	-12.8716	10.4137	0.44309	0.6693:0.0:0.3307:0.0	.	337	Q7L1S5	CHST9_HUMAN	V	337	ENSP00000284224:L337V	ENSP00000284224:L337V	L	-	1	2	CHST9	22750544	0.987000	0.35691	0.999000	0.59377	0.801000	0.45260	0.361000	0.20267	0.194000	0.20326	-0.408000	0.06270	TTG	CHST9	-	pfam_Sulfotransferase	ENSG00000154080		0.398	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST9	HGNC	protein_coding	OTTHUMT00000446549.1		0	29	0	A	NM_031422		24496546	-1			no_errors	ENST00000284224	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.996	C	C	24496546	A	C	24496546	3	2	142	1	0	0	0	0	1	0	0	0	3418	69	3	4	326	4	CHST9	18	24496546	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09		24496546	53580702	138	36146											
ZNF397	84307	genome.wustl.edu	37	chr18	32825283	32825283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcagaagaaaaatcacaggGactccctcaggaaccttcat	15	7	7	12	0	4	2	4	0	0	2	5	4	5	4	2	2	1	0	2	2	4	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr18:32825283G>A	ENST00000330501.7	+	4	767	c.614G>A	c.(613-615)gGa>gAa	p.G205E	ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_3'UTR|ZNF397_ENST00000261333.6_Missense_Mutation_p.G205E|ZNF397_ENST00000355632.4_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	205					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(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						AAATCACAGGGACTCCCTCAG	0.398																																																	0													76	76	76					18																	32825283		2203	4300	6503	SO:0001583	missense	0			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"-", "Zinc fingers, C2H2-type"	18818	protein-coding gene	gene with protein product		609601	"zinc finger protein 47"	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.614G>A	18.37:g.32825283G>A	ENSP00000331577:p.Gly205Glu		Q9BRM2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G205E	ENST00000330501.7	37	c.614	CCDS45852.1	18	.	.	.	.	.	.	.	.	.	.	G	2.826	-0.243813	0.05906	.	.	ENSG00000186812	ENST00000261333;ENST00000330501	T;T	0.05855	4.47;3.38	3.56	1.08	0.20341	.	0.507228	0.14803	N	0.297523	T	0.02929	0.0087	N	0.19112	0.55	0.21652	N	0.999606	B;B	0.20550	0.001;0.046	B;B	0.12837	0.001;0.008	T	0.46484	-0.9188	10	0.02654	T	1	.	4.9173	0.13853	0.1767:0.1958:0.6275:0.0	.	205;205	Q8NF99;Q8NF99-2	ZN397_HUMAN;.	E	205	ENSP00000261333:G205E;ENSP00000331577:G205E	ENSP00000261333:G205E	G	+	2	0	ZNF397	31079281	0.000000	0.05858	0.022000	0.16811	0.941000	0.58515	0.143000	0.16115	0.098000	0.17522	0.289000	0.19496	GGA	ZNF397	-	NULL	ENSG00000186812		0.398	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1		0	51	0	G	NM_032347		32825283	1			no_errors	ENST00000330501	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.386	A	A	32825283	G	A	32825283	3	1	142	1	0	0	0	0	1	0	0	0	17931	1174	41	3	624	3	ZNF397	18	32825283	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	8328737	32825283	45251965	139	36147											
ELP2	55250	genome.wustl.edu	37	chr18	33750130	33750130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgtgacagctgtcagCgtctgcccagtgctccaccc	5	8	13	15	1	2	1	1	1	1	0	3	1	3	1	3	2	4	3	3	2	0	0			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr18:33750130C>T	ENST00000358232.6	+	20	2244	c.2181C>T	c.(2179-2181)agC>agT	p.S727S	ELP2_ENST00000423854.2_Silent_p.S657S|ELP2_ENST00000542824.1_Silent_p.S657S|ELP2_ENST00000351393.6_Silent_p.S701S|ELP2_ENST00000350494.6_Silent_p.S722S|ELP2_ENST00000442325.2_Silent_p.S792S	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	727					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CAGCTGTCAGCGTCTGCCCAG	0.532																																																	0													161	128	139					18																	33750130		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2181C>T	18.37:g.33750130C>T			A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S727	ENST00000358232.6	37	c.2181	CCDS11918.1	18																																																																																			ELP2	-	superfamily_WD40_repeat_dom	ENSG00000134759		0.532	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2		0	87	0	C	NM_018255		33750130	1			no_errors	ENST00000358232	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.081	T	T	33750130	C	T	33750130	2	4	142	1	0	0	0	0	0	0	0	1	5096	767	27	1		1	ELP2	18	33750130	Silent	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	924847	33750130	44327118	140	36148											
FHOD3	80206	genome.wustl.edu	37	chr18	34192047	34192047	+	Missense_Mutation	SNP	A	A	C	1	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	tggacttagtggagcaactcAacatttatgaggtaccagac	13	10	10	8	0	1	2	1	1	0	1	1	4	1	4	1	3	4	2	1	3	5	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr18:34192047A>C	ENST00000359247.4	+	9	946	c.946A>C	c.(946-948)Aac>Cac	p.N316H	FHOD3_ENST00000257209.4_Missense_Mutation_p.N316H|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.N316H|FHOD3_ENST00000445677.1_Missense_Mutation_p.N316H	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	316	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGAGCAACTCAACATTTATGA	0.512																																																	0													215	173	187					18																	34192047		2203	4300	6503	SO:0001583	missense	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.946A>C	18.37:g.34192047A>C	ENSP00000352186:p.Asn316His		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.N316H	ENST00000359247.4	37	c.946		18	.	.	.	.	.	.	.	.	.	.	A	17.92	3.507902	0.64410	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.76578	-1.03;-1.03;-1.03	5.58	5.58	0.84498	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86247	0.5887	M	0.66939	2.045	0.39699	D	0.971152	D;D;D;D	0.89917	0.989;0.991;1.0;0.979	D;D;D;D	0.77004	0.986;0.989;0.98;0.969	D	0.86907	0.2058	10	0.45353	T	0.12	.	14.884	0.70555	1.0:0.0:0.0:0.0	.	316;316;316;316	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	H	316	ENSP00000257209:N316H;ENSP00000352186:N316H;ENSP00000411430:N316H	ENSP00000257209:N316H	N	+	1	0	FHOD3	32446045	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	7.526000	0.81920	2.250000	0.74265	0.454000	0.30748	AAC	FHOD3	-	superfamily_ARM-type_fold	ENSG00000134775		0.512	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1		0	59	0	A	XM_371114		34192047	1			no_errors	ENST00000257209	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	C	C	34192047	A	C	34192047	3	2	142	1	0	0	0	0	1	0	0	0	5905	130	5	4	980	4	FHOD3	18	34192047	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	441917	34192047	43885201	141	36149											
PLIN4	729359	genome.wustl.edu	37	chr19	4511250	4511250	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggacagtccctttggccaAgttcacagcccctgtgagcc	7	9	10	15	0	1	1	1	1	0	0	2	2	2	2	5	2	2	1	5	2	1	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:4511250A>C	ENST00000301286.3	-	3	2679	c.2680T>G	c.(2680-2682)Ttg>Gtg	p.L894V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	894	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						CCTTTGGCCAAGTTCACAGCC	0.597																																																	0													107	111	109					19																	4511250		2009	4165	6174	SO:0001583	missense	0			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.2680T>G	19.37:g.4511250A>C	ENSP00000301286:p.Leu894Val		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.L894V	ENST00000301286.3	37	c.2680	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	A	0.237	-1.016262	0.02078	.	.	ENSG00000167676	ENST00000301286	T	0.06142	3.34	4.86	-2.03	0.07365	.	1.101450	0.07304	N	0.874684	T	0.01523	0.0049	N	0.01535	-0.81	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44251	-0.9340	10	0.02654	T	1	-4.3193	0.2791	0.00242	0.3279:0.2521:0.1338:0.2861	.	894	Q96Q06	PLIN4_HUMAN	V	894	ENSP00000301286:L894V	ENSP00000301286:L894V	L	-	1	2	PLIN4	4462250	0.000000	0.05858	0.061000	0.19648	0.017000	0.09413	-5.297000	0.00133	-0.214000	0.10078	0.379000	0.24179	TTG	PLIN4	-	NULL	ENSG00000167676		0.597	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1		0	96	0	A	XM_170901		4511250	-1			no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	10.87	41	5	SNP	0.009	C	C	4511250	A	C	4511250	3	2	142	1	0	0	0	0	1	0	0	0	12131	69	3	4	1409	4	PLIN4	19	4511250	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09		4511250	54617733	142	36150											
PLIN4	729359	genome.wustl.edu	37	chr19	4511646	4511646	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggacagtccctttggccaActtcacagcccctgtgagcc	7	9	9	16	0	1	1	1	1	0	0	2	2	2	2	5	2	3	0	5	2	1	2	rs75876308	byFrequency	TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:4511646A>C	ENST00000301286.3	-	3	2283	c.2284T>G	c.(2284-2286)Ttg>Gtg	p.L762V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	762	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						CCTTTGGCCAACTTCACAGCC	0.572													a|||	44	0.00878594	0.0053	0.0519	5008	,	,		20320	0.001		0	False		,,,				2504	0																0													122	94	103					19																	4511646		2076	4195	6271	SO:0001583	missense	0			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.2284T>G	19.37:g.4511646A>C	ENSP00000301286:p.Leu762Val		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.L762V	ENST00000301286.3	37	c.2284	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	a	0.015	-1.558038	0.00910	.	.	ENSG00000167676	ENST00000301286	T	0.02301	4.35	4.69	-5.67	0.02444	.	0.530450	0.15430	N	0.262752	T	0.00468	0.0015	N	0.00507	-1.42	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38265	-0.9669	10	0.02654	T	1	-8.2514	0.877	0.01226	0.3483:0.2765:0.102:0.2731	.	762	Q96Q06	PLIN4_HUMAN	V	762	ENSP00000301286:L762V	ENSP00000301286:L762V	L	-	1	2	PLIN4	4462646	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-7.181000	0.00042	-0.937000	0.03719	-2.150000	0.00334	TTG	PLIN4	-	NULL	ENSG00000167676		0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1		0	105	0	A	XM_170901		4511646	-1			no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	28.16	74	29	SNP	0.000	C	C	4511646	A	C	4511646	3	2	142	1	0	0	0	0	1	0	0	0	12131	40	2	4	1805	4	PLIN4	19	4511646	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	396	4511646	54617337	143	36151											
TYK2	7297	genome.wustl.edu	37	chr19	10473098	10473098	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgctgctcaatggggaacTttcggagccgcaagctctgc	7	9	12	13	2	2	0	1	0	1	0	3	2	2	2	2	3	6	4	2	3	3	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:10473098T>C	ENST00000525621.1	-	11	1992	c.1511A>G	c.(1510-1512)aAg>aGg	p.K504R	TYK2_ENST00000529370.1_Missense_Mutation_p.K504R|TYK2_ENST00000264818.6_Missense_Mutation_p.K504R|TYK2_ENST00000524462.1_Missense_Mutation_p.K319R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	504	SH2; atypical.				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)			AATGGGGAACTTTCGGAGCCG	0.667																																																	0													23	26	25					19																	10473098		2202	4300	6502	SO:0001583	missense	0				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.1511A>G	19.37:g.10473098T>C	ENSP00000431885:p.Lys504Arg		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.K504R	ENST00000525621.1	37	c.1511	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942933	0.34283	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	4.36	1.09	0.20402	SH2 motif (2);	0.265266	0.25450	N	0.030596	T	0.15003	0.0362	L	0.34521	1.04	0.27402	N	0.954819	B;B	0.16166	0.016;0.004	B;B	0.16289	0.015;0.009	T	0.14309	-1.0477	10	0.36615	T	0.2	-35.6302	3.9118	0.09207	0.157:0.1719:0.0:0.6711	.	504;504	E9PPF2;P29597	.;TYK2_HUMAN	R	319;504;504;251;504	ENSP00000433203:K319R;ENSP00000431885:K504R;ENSP00000264818:K504R;ENSP00000432728:K504R	ENSP00000264818:K504R	K	-	2	0	TYK2	10334098	0.994000	0.37717	0.163000	0.22734	0.060000	0.15804	3.579000	0.53900	-0.042000	0.13535	0.402000	0.26972	AAG	TYK2	-	smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2	ENSG00000105397		0.667	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1		0	59	0	T			10473098	-1			no_errors	ENST00000264818	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.884	C	C	10473098	T	C	10473098	3	2	142	1	0	0	0	0	1	0	0	0	16859	1609	56	4	2112	4	TYK2	19	10473098	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	5961452	10473098	48655885	144	36152											
CLEC17A	388512	genome.wustl.edu	37	chr19	14694191	14694191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatggaggaggaggaggaGgatgatgactatgagaactc	14	6	16	5	0	0	3	0	3	0	1	1	10	0	9	1	6	1	0	1	6	2	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:14694191G>T	ENST00000417570.1	+	2	104	c.66G>T	c.(64-66)gaG>gaT	p.E22D	CLEC17A_ENST00000397439.2_Missense_Mutation_p.E22D|CLEC17A_ENST00000547437.1_Missense_Mutation_p.E22D|RN7SL337P_ENST00000462468.2_RNA	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	22	Poly-Glu.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.E22D(1)									AGGAGGAGGAGGATGATGACT	0.562																																																	1	Substitution - Missense(1)	endometrium(1)											31	28	29					19																	14694191		1855	4057	5912	SO:0001583	missense	0			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.66G>T	19.37:g.14694191G>T	ENSP00000393719:p.Glu22Asp		A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E22D	ENST00000417570.1	37	c.66	CCDS56087.1	19	.	.	.	.	.	.	.	.	.	.	G	2.622	-0.288366	0.05605	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.19394	2.15;2.5;4.0	3.24	-6.48	0.01896	.	.	.	.	.	T	0.09905	0.0243	L	0.31664	0.95	0.09310	N	1	B;B;B;B	0.12630	0.001;0.006;0.004;0.006	B;B;B;B	0.14578	0.003;0.011;0.002;0.005	T	0.17776	-1.0358	9	0.19147	T	0.46	.	1.7991	0.03068	0.166:0.3031:0.1262:0.4047	.	22;22;22;22	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	D	22	ENSP00000450065:E22D;ENSP00000380581:E22D;ENSP00000393719:E22D	ENSP00000341620:E22D	E	+	3	2	CLEC17A	14555191	0.009000	0.17119	0.000000	0.03702	0.002000	0.02628	-1.637000	0.02015	-3.697000	0.00119	-2.070000	0.00385	GAG	CLEC17A	-	NULL	ENSG00000187912		0.562	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC17A	HGNC	protein_coding	OTTHUMT00000403400.1		0	91	0	G	NM_207390		14694191	1			no_errors	ENST00000417570	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.000	T	T	14694191	G	T	14694191	3	4	142	1	0	0	0	0	1	0	0	0	3508	991	35	3	72	3	CLEC17A	19	14694191	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	4221093	14694191	44434792	145	36153											
UNC13A	23025	genome.wustl.edu	37	chr19	17746919	17746919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccagaagtcgaggttCttgatgctgggcccctgttc	6	12	13	10	1	1	2	0	1	1	1	3	4	1	3	3	3	1	3	3	3	1	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:17746919C>A	ENST00000519716.2	-	26	3128	c.3129G>T	c.(3127-3129)aaG>aaT	p.K1043N	UNC13A_ENST00000551649.1_Missense_Mutation_p.K1043N|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1043N|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1043N|UNC13A_ENST00000428389.2_Missense_Mutation_p.K1131N|UNC13A_ENST00000550896.1_Missense_Mutation_p.K1041N	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1043					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						AGTCGAGGTTCTTGATGCTGG	0.527																																																	0													72	69	70					19																	17746919		1938	4155	6093	SO:0001583	missense	0			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.3129G>T	19.37:g.17746919C>A	ENSP00000429562:p.Lys1043Asn		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.K1131N	ENST00000519716.2	37	c.3393	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155621	0.57259	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.82167	-1.56;-1.58;-1.56;-1.44;-1.43;-1.55	3.52	2.44	0.29823	Calcium-dependent secretion activator (1);	0.061993	0.64402	U	0.000007	D	0.84692	0.5528	M	0.61703	1.905	0.38724	D	0.953502	P	0.42993	0.797	P	0.53146	0.719	D	0.85835	0.1394	10	0.59425	D	0.04	-21.7854	8.8817	0.35378	0.0:0.8805:0.0:0.1195	.	1043	Q9UPW8	UN13A_HUMAN	N	1043;1131;1043;1043;1043;1041	ENSP00000429562:K1043N;ENSP00000400409:K1131N;ENSP00000252773:K1043N;ENSP00000447236:K1043N;ENSP00000447572:K1043N;ENSP00000446831:K1041N	ENSP00000252773:K1043N	K	-	3	2	UNC13A	17607919	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.080000	0.30779	1.808000	0.52836	0.305000	0.20034	AAG	UNC13A	-	pfam_Ca-dep_secretion_activator	ENSG00000130477		0.527	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2		0	94	0	C	XM_038604		17746919	-1			no_errors	ENST00000428389	ensembl	human	known	74_37	missense	41.03	23	16	SNP	1.000	A	A	17746919	C	A	17746919	3	1	142	1	0	0	0	0	1	0	0	0	17033	912	32	3	2054	3	UNC13A	19	17746919	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	3052728	17746919	41382064	146	36154											
SELV	348303	genome.wustl.edu	37	chr19	40006070	40006070	+	Missense_Mutation	SNP	T	T	A	0	1	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	agcccagattcccactctggTccccactcccgctctggccc	5	8	7	21	1	2	1	0	0	2	1	5	1	5	1	6	2	1	1	6	2	0	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:40006070T>A	ENST00000335426.4	+	1	318	c.218T>A	c.(217-219)gTc>gAc	p.V73D	SELV_ENST00000423711.1_Missense_Mutation_p.V73D	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		73					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	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)			cccactctggtccccactccc	0.687																																																	0													32	40	37					19																	40006070		1595	3087	4682	SO:0001583	missense	0																														ENST00000335426.4:c.218T>A	19.37:g.40006070T>A	ENSP00000333956:p.Val73Asp		Q17RG5	Missense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.V73D	ENST00000335426.4	37	c.218	CCDS54266.1	19	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348811	0.41599	.	.	ENSG00000186838	ENST00000335426;ENST00000423711	T;T	0.53640	0.61;0.69	2.88	0.593	0.17478	.	.	.	.	.	T	0.47911	0.1471	L	0.49126	1.545	0.32415	N	0.550113	D	0.62365	0.991	P	0.58013	0.831	T	0.53500	-0.8430	9	0.14252	T	0.57	-0.5392	5.7805	0.18304	0.0:0.4975:0.0:0.5025	.	73	P59797	SELV_HUMAN	D	73	ENSP00000333956:V73D;ENSP00000412508:V73D	ENSP00000333956:V73D	V	+	2	0	AC011500.1	44697910	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-1.783000	0.01770	0.083000	0.17047	0.248000	0.18094	GTC	SELV	-	NULL	ENSG00000186838		0.687	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELV	Uniprot_gn	protein_coding	OTTHUMT00000389802.1		0	25	0	T			40006070	1			no_errors	ENST00000423711	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.018	A	A	40006070	T	A	40006070	3	1	142	1	0	0	0	0	1	0	0	0	14068	1667	58	5	220	5	SELV	19	40006070	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	22259151	40006070	19122913	147	36155											
FCGBP	8857	genome.wustl.edu	37	chr19	40364190	40364191	+	Frame_Shift_Del	DEL	CA	CA	-																															atggccacctggcccacactCacagcgccgctcacactcag																										TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:40364190_40364191delCA	ENST00000221347.6	-	31	14458_14459	c.14451_14452delTG	c.(14449-14454)tgtgagfs	p.CE4817fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4817						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)			GGCCCACACTCACAGCGCCGCT	0.663																																																	0																																										SO:0001589	frameshift_variant	0			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.14451_14452delTG	19.37:g.40364192_40364193delCA	ENSP00000221347:p.Cys4817fs		O95784	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.C4817fs	ENST00000221347.6	37	c.14452_14451	CCDS12546.1	19																																																																																			FCGBP	-	smart_VWC_out	ENSG00000090920		0.663	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0	66	0	CA	NM_003890		40364191	-1			no_errors	ENST00000221347	ensembl	human	known	74_37	frame_shift_del	20.45	35	9	DEL	0.997:0.999	0	-	40364191	CA	-	40364190	7	5	142	1	0	1	0	1	0	0	0	0	5800	835	29	0	1789	0	FCGBP	19	40364190	Frame_Shift_Del	DEL	CA	TCGA-R6-A6L4-01A-11D-A31U-09	358120	40364190	18764793	148	36156											
FCGBP	8857	genome.wustl.edu	37	chr19	40421095	40421095	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccacgtcgctcaccagCacttgcccggggtactcccg	5	6	12	18	5	1	0	1	0	0	0	3	0	2	0	4	3	3	3	4	3	1	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:40421095C>T	ENST00000221347.6	-	5	2833	c.2826G>A	c.(2824-2826)gtG>gtA	p.V942V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	942	VWFD 2. {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)			CGCTCACCAGCACTTGCCCGG	0.682																																																	0													19	22	21					19																	40421095		2188	4258	6446	SO:0001819	synonymous_variant	0			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.2826G>A	19.37:g.40421095C>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.V942	ENST00000221347.6	37	c.2826	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0	49	0	C	NM_003890		40421095	-1			no_errors	ENST00000221347	ensembl	human	known	74_37	silent	50.00	17	17	SNP	0.245	T	T	40421095	C	T	40421095	2	4	142	1	0	0	0	0	0	0	0	1	5800	697	25	3		3	FCGBP	19	40421095	Silent	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	56905	40421095	18707888	149	36157											
ZNF222	7673	genome.wustl.edu	37	chr19	44536823	44536823	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatatcttttggtccatcaAcgagtccacactggagaaaa	13	11	7	10	1	3	1	2	0	1	1	5	3	5	1	2	2	1	0	2	2	4	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:44536823A>C	ENST00000187879.8	+	4	1158	c.996A>C	c.(994-996)caA>caC	p.Q332H	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.Q372H	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	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(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGGTCCATCAACGAGTCCACA	0.428																																																	0													105	103	104					19																	44536823		2203	4300	6503	SO:0001583	missense	0			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"Zinc fingers, C2H2-type", "-"	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.996A>C	19.37:g.44536823A>C	ENSP00000187879:p.Gln332His		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q372H	ENST00000187879.8	37	c.1116	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401324	0.42613	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.36520	1.25;1.25	2.79	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44519	0.1297	L	0.48174	1.505	0.23003	N	0.998443	P;D	0.52996	0.953;0.957	D;D	0.68483	0.948;0.958	T	0.21999	-1.0229	9	0.52906	T	0.07	.	2.6465	0.04985	0.2663:0.0:0.5054:0.2283	.	372;332	G5E9B9;Q9UK12	.;ZN222_HUMAN	H	372;332;278	ENSP00000375822:Q372H;ENSP00000187879:Q332H	ENSP00000187879:Q332H	Q	+	3	2	ZNF222	49228663	0.000000	0.05858	0.154000	0.22540	0.310000	0.27922	-0.709000	0.05030	0.482000	0.27582	-1.073000	0.02249	CAA	ZNF222	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000159885		0.428	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2		0	65	0	A			44536823	1			no_errors	ENST00000391960	ensembl	human	known	74_37	missense	27.27	32	12	SNP	0.870	C	C	44536823	A	C	44536823	3	2	142	1	0	0	0	0	1	0	0	0	17824	40	2	4	1149	4	ZNF222	19	44536823	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	4115728	44536823	14592160	150	36158											
PPFIA3	8541	genome.wustl.edu	37	chr19	49637913	49637913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaactccctgagcgaggaGatagccaacatgaagaagct	15	5	11	10	1	0	5	0	2	0	3	1	7	1	5	2	1	5	1	2	1	5	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:49637913G>T	ENST00000334186.4	+	12	1744	c.1395G>T	c.(1393-1395)gaG>gaT	p.E465D	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E465D	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	465					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.E465D(1)		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)		TGAGCGAGGAGATAGCCAACA	0.602																																																	1	Substitution - Missense(1)	lung(1)											139	130	133					19																	49637913		2203	4300	6503	SO:0001583	missense	0			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.1395G>T	19.37:g.49637913G>T	ENSP00000335614:p.Glu465Asp		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E465D	ENST00000334186.4	37	c.1395	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024981	0.54683	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.25414	1.8	3.4	2.36	0.29203	.	0.000000	0.42682	U	0.000674	T	0.32496	0.0831	L	0.54323	1.7	0.44417	D	0.99733	P;B;P	0.47545	0.458;0.022;0.897	B;B;P	0.54924	0.129;0.045;0.764	T	0.04664	-1.0935	10	0.54805	T	0.06	-16.3752	5.3213	0.15883	0.3508:0.0:0.6492:0.0	.	389;465;465	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	D	465;389	ENSP00000335614:E465D	ENSP00000335614:E465D	E	+	3	2	PPFIA3	54329725	1.000000	0.71417	0.999000	0.59377	0.834000	0.47266	3.024000	0.49674	0.779000	0.33543	0.557000	0.71058	GAG	PPFIA3	-	NULL	ENSG00000177380		0.602	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1		0	55	0	G	NM_003660		49637913	1			no_errors	ENST00000334186	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	49637913	G	T	49637913	3	4	142	1	0	0	0	0	1	0	0	0	12350	933	33	3	1437	3	PPFIA3	19	49637913	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	5101090	49637913	9491070	151	36159											
KLK2	3817	genome.wustl.edu	37	chr19	51381679	51381679	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtgattctgggggtccacTtgtctgtaatggtgtgcttc	4	15	15	7	0	2	1	0	1	2	0	4	1	3	1	1	4	1	2	1	4	1	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:51381679T>C	ENST00000325321.3	+	5	875	c.650T>C	c.(649-651)cTt>cCt	p.L217P	KLK2_ENST00000358049.4_3'UTR|KLK2_ENST00000391810.2_Missense_Mutation_p.L115P			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GGGGGTCCACTTGTCTGTAAT	0.537			T	ETV4	prostate																																			Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													190	180	183					19																	51381679		2203	4300	6503	SO:0001583	missense	0			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"Kallikreins"	6363	protein-coding gene	gene with protein product		147960	"kallikrein 2, prostatic"			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.650T>C	19.37:g.51381679T>C	ENSP00000313581:p.Leu217Pro		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L217P	ENST00000325321.3	37	c.650	CCDS12808.1	19	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961561	0.74016	.	.	ENSG00000167751	ENST00000325321;ENST00000391810	D;D	0.92249	-3.0;-3.0	3.41	3.41	0.39046	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.30901	N	0.008642	D	0.97096	0.9051	H	0.97564	4.03	0.43494	D	0.995732	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96942	0.9688	10	0.87932	D	0	.	10.1097	0.42555	0.0:0.0:0.0:1.0	.	200;217	B4DU77;P20151	.;KLK2_HUMAN	P	217;115	ENSP00000313581:L217P;ENSP00000375686:L115P	ENSP00000313581:L217P	L	+	2	0	KLK2	56073491	0.938000	0.31826	0.010000	0.14722	0.644000	0.38419	6.127000	0.71642	1.319000	0.45190	0.383000	0.25322	CTT	KLK2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000167751		0.537	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3		0	111	0	T	NM_005551.3		51381679	1			no_errors	ENST00000325321	ensembl	human	known	74_37	missense	39.09	67	43	SNP	0.802	C	C	51381679	T	C	51381679	3	2	142	1	0	0	0	0	1	0	0	0	8431	1609	56	4	705	4	KLK2	19	51381679	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	1743766	51381679	7747304	152	36160											
ZNF28	7576	genome.wustl.edu	37	chr19	53303226	53303226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagtatgaagcctacgatgGattataagcgatgatgtctg	12	11	11	7	2	1	2	0	2	1	0	1	5	1	3	2	1	3	1	2	1	5	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:53303226G>C	ENST00000457749.2	-	4	1991	c.1872C>G	c.(1870-1872)atC>atG	p.I624M	ZNF28_ENST00000360272.4_Missense_Mutation_p.I571M|ZNF28_ENST00000414252.2_Missense_Mutation_p.I571M|ZNF28_ENST00000438150.2_Missense_Mutation_p.I571M	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	624					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)		GCCTACGATGGATTATAAGCG	0.438																																																	0													228	204	212					19																	53303226		2203	4300	6503	SO:0001583	missense	0			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.1872C>G	19.37:g.53303226G>C	ENSP00000397693:p.Ile624Met		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I624M	ENST00000457749.2	37	c.1872	CCDS33093.2	19	.	.	.	.	.	.	.	.	.	.	-	2.356	-0.347685	0.05208	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	1.81	-3.62	0.04543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	N	0.21142	0.635	0.09310	N	1	P	0.44309	0.832	B	0.36608	0.229	T	0.22556	-1.0213	9	0.33940	T	0.23	.	3.1024	0.06330	0.4053:0.0:0.1594:0.4353	.	624	P17035	ZNF28_HUMAN	M	571;624;571;571	ENSP00000412143:I571M;ENSP00000397693:I624M;ENSP00000353410:I571M;ENSP00000444965:I571M	ENSP00000353410:I571M	I	-	3	3	ZNF28	57995038	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-4.967000	0.00165	-0.607000	0.05738	0.298000	0.19748	ATC	ZNF28	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198538		0.438	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF28	HGNC	protein_coding	OTTHUMT00000336038.2		0	97	0	G	NM_006969		53303226	-1			no_errors	ENST00000457749	ensembl	human	known	74_37	missense	26.56	47	17	SNP	0.016	C	C	53303226	G	C	53303226	3	2	142	1	0	0	0	0	1	0	0	0	17861	1164	41	5	288	5	ZNF28	19	53303226	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	1921547	53303226	5825757	153	36161											
TTYH1	57348	genome.wustl.edu	37	chr19	54942356	54942356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcactgctacactgccGcagcctgcacaaggtgaagc	9	6	13	13	1	0	1	0	1	0	0	0	1	0	1	2	3	6	4	2	3	3	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:54942356G>A	ENST00000376530.3	+	10	1215	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000301194.4_Missense_Mutation_p.R371H|TTYH1_ENST00000376531.3_Missense_Mutation_p.R371H|TTYH1_ENST00000391739.3_Silent_p.P401P|TTYH1_ENST00000489425.1_3'UTR	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	371					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)		CTACACTGCCGCAGCCTGCAC	0.602																																																	0													79	72	74					19																	54942356		2203	4300	6503	SO:0001583	missense	0			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.1112G>A	19.37:g.54942356G>A	ENSP00000365713:p.Arg371His		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	pfam_Tweety	p.R371H	ENST00000376530.3	37	c.1112	CCDS12893.1	19	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342983	0.41498	.	.	ENSG00000167614	ENST00000301194;ENST00000376530;ENST00000376531	T;T;T	0.19105	2.17;2.17;2.17	4.07	3.02	0.34903	.	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	M	0.83774	2.66	0.80722	D	1	B;B;B;B	0.31040	0.305;0.099;0.268;0.009	B;B;B;B	0.26517	0.07;0.035;0.051;0.008	T	0.13335	-1.0513	10	0.66056	D	0.02	-16.5537	10.0833	0.42404	0.1013:0.0:0.8987:0.0	.	283;371;371;371	Q9H313-5;Q9H313-2;Q9H313-3;Q9H313	.;.;.;TTYH1_HUMAN	H	371	ENSP00000301194:R371H;ENSP00000365713:R371H;ENSP00000365714:R371H	ENSP00000301194:R371H	R	+	2	0	TTYH1	59634168	1.000000	0.71417	0.872000	0.34217	0.570000	0.35934	3.814000	0.55643	1.047000	0.40274	0.561000	0.74099	CGC	TTYH1	-	pfam_Tweety	ENSG00000167614		0.602	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1		0	79	0	G			54942356	1			no_errors	ENST00000376531	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.988	A	A	54942356	G	A	54942356	3	1	142	1	0	0	0	0	1	0	0	0	16788	1087	38	1	1150	1	TTYH1	19	54942356	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	1639130	54942356	4186627	154	36162											
TGM3	7053	genome.wustl.edu	37	chr20	2291025	2291025	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggcatctcctctgtgaaacTtgggacgttcatactgcttt	7	14	9	11	2	3	1	1	1	2	0	4	2	3	2	1	2	3	3	1	2	2	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:2291025T>G	ENST00000381458.5	+	3	446	c.383T>G	c.(382-384)cTt>cGt	p.L128R		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	128					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)	TCTGTGAAACTTGGGACGTTC	0.537																																																	0													192	182	186					20																	2291025		2203	4300	6503	SO:0001583	missense	0			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.383T>G	20.37:g.2291025T>G	ENSP00000370867:p.Leu128Arg		A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L128R	ENST00000381458.5	37	c.383	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773635	0.69992	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.93189	-3.18	5.34	5.34	0.76211	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.509987	0.20845	N	0.084634	D	0.96962	0.9008	M	0.91406	3.205	0.48901	D	0.999722	D	0.89917	1.0	D	0.64410	0.925	D	0.97612	1.0130	10	0.87932	D	0	.	13.2685	0.60148	0.0:0.0:0.0:1.0	.	128	Q08188	TGM3_HUMAN	R	128	ENSP00000370867:L128R	ENSP00000370867:L128R	L	+	2	0	TGM3	2239025	0.191000	0.23288	0.602000	0.28890	0.044000	0.14063	2.930000	0.48924	2.021000	0.59480	0.379000	0.24179	CTT	TGM3	-	superfamily_Ig_E-set	ENSG00000125780		0.537	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2		0	30	0	T	NM_003245		2291025	1			no_errors	ENST00000381458	ensembl	human	known	74_37	missense	29.17	34	14	SNP	0.959	G	G	2291025	T	G	2291025	3	3	142	1	0	0	0	0	1	0	0	0	15878	1609	56	4	393	4	TGM3	20	2291025	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09		2291025	60734495	155	36163											
ASXL1	171023	genome.wustl.edu	37	chr20	31024338	31024338	+	Missense_Mutation	SNP	T	T	C	0	1	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	cctcgagaacacctcgtttcTcatctccaaatgtgatctcc	9	12	5	15	2	3	2	1	1	3	1	8	3	3	2	4	0	1	1	4	0	2	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:31024338T>C	ENST00000375687.4	+	13	4247	c.3823T>C	c.(3823-3825)Tca>Cca	p.S1275P	ASXL1_ENST00000306058.5_Missense_Mutation_p.S1270P	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1275					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ACCTCGTTTCTCATCTCCAAA	0.502			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													100	91	94					20																	31024338		2203	4300	6503	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3823T>C	20.37:g.31024338T>C	ENSP00000364839:p.Ser1275Pro		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.S1275P	ENST00000375687.4	37	c.3823	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702948	0.48412	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.16324	2.36;2.35	4.56	3.46	0.39613	.	0.532693	0.20083	N	0.099606	T	0.12347	0.0300	L	0.34521	1.04	0.30594	N	0.761185	B;B	0.18461	0.011;0.028	B;B	0.14023	0.007;0.01	T	0.07654	-1.0761	10	0.35671	T	0.21	-1.6163	8.564	0.33527	0.0:0.0887:0.0:0.9113	.	1270;1275	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	P	1275;1275;1275;1196;1270	ENSP00000364839:S1275P;ENSP00000305119:S1270P	ENSP00000305119:S1270P	S	+	1	0	ASXL1	30487999	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	3.982000	0.56909	1.084000	0.41184	0.459000	0.35465	TCA	ASXL1	-	NULL	ENSG00000171456		0.502	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2		0	33	0	T	NM_015338		31024338	1			no_errors	ENST00000375687	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	C	C	31024338	T	C	31024338	3	2	142	1	0	0	0	0	1	0	0	0	1067	1551	54	4	3879	4	ASXL1	20	31024338	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	28733313	31024338	32001182	156	36164											
PPP1R16B	26051	genome.wustl.edu	37	chr20	37546851	37546851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgaatttcctaccaagatcCcacgaggtgaactggacatg	12	8	9	12	2	0	2	0	1	0	1	2	5	2	3	4	2	2	0	4	2	4	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:37546851C>A	ENST00000299824.1	+	11	1435	c.1246C>A	c.(1246-1248)Cca>Aca	p.P416T	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.P374T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	416					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)				TACCAAGATCCCACGAGGTGA	0.567																																																	0													140	144	142					20																	37546851		2203	4300	6503	SO:0001583	missense	0			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.1246C>A	20.37:g.37546851C>A	ENSP00000299824:p.Pro416Thr		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P416T	ENST00000299824.1	37	c.1246	CCDS13309.1	20	.	.	.	.	.	.	.	.	.	.	C	6.865	0.528886	0.13127	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.68765	-0.16;-0.35	5.44	1.78	0.24846	.	0.107299	0.64402	D	0.000007	T	0.23210	0.0561	N	0.00707	-1.245	0.20926	N	0.999822	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17018	-1.0383	10	0.10377	T	0.69	.	0.7287	0.00953	0.4095:0.2732:0.1425:0.1748	.	374;416	E9PFS8;Q96T49	.;PP16B_HUMAN	T	416;374	ENSP00000299824:P416T;ENSP00000362428:P374T	ENSP00000299824:P416T	P	+	1	0	PPP1R16B	36980265	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.511000	0.45476	0.452000	0.26830	0.655000	0.94253	CCA	PPP1R16B	-	pirsf_Pase-1_reg_su_16AB_euk	ENSG00000101445		0.567	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2		0	41	0	C	NM_015568		37546851	1			no_errors	ENST00000299824	ensembl	human	known	74_37	missense	36.59	26	15	SNP	1.000	A	A	37546851	C	A	37546851	3	1	142	1	0	0	0	0	1	0	0	0	12408	623	22	3	1284	3	PPP1R16B	20	37546851	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	6522513	37546851	25478669	157	36165											
TOP1	7150	genome.wustl.edu	37	chr20	39744934	39744934	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagactggtattctgaataAgcatcttcaggatctcatgg	11	12	9	9	0	4	2	2	1	3	1	5	3	4	3	1	3	1	2	1	3	3	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:39744934A>C	ENST00000361337.2	+	17	1974	c.1724A>C	c.(1723-1725)aAg>aCg	p.K575T	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	575					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)	ATTCTGAATAAGCATCTTCAG	0.478			T	NUP98	AML*																																			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													93	80	84					20																	39744934		2203	4300	6503	SO:0001583	missense	0				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.1724A>C	20.37:g.39744934A>C	ENSP00000354522:p.Lys575Thr		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.K575T	ENST00000361337.2	37	c.1724	CCDS13312.1	20	.	.	.	.	.	.	.	.	.	.	A	29.9	5.046216	0.93740	.	.	ENSG00000198900	ENST00000361337	T	0.47528	0.84	6.17	6.17	0.99709	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.90922	3.16	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.81284	-0.1002	10	0.72032	D	0.01	-19.4945	16.8222	0.85835	1.0:0.0:0.0:0.0	.	575	P11387	TOP1_HUMAN	T	575	ENSP00000354522:K575T	ENSP00000354522:K575T	K	+	2	0	TOP1	39178348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAG	TOP1	-	pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk	ENSG00000198900		0.478	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1	HGNC	protein_coding	OTTHUMT00000080397.2		0	67	0	A			39744934	1			no_errors	ENST00000361337	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	C	C	39744934	A	C	39744934	3	2	142	1	0	0	0	0	1	0	0	0	16411	72	3	4	1790	4	TOP1	20	39744934	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	2198083	39744934	23280586	158	36166											
ZNFX1	57169	genome.wustl.edu	37	chr20	47871098	47871098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcttcctggagtctcagctCggccattctttctgctgatg	4	15	10	12	1	4	1	1	1	4	0	7	2	5	2	2	2	2	2	2	2	0	3	rs370749596		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:47871098C>T	ENST00000396105.1	-	10	3139	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	ZNFX1_ENST00000371754.4_Missense_Mutation_p.E965K|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E965K	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	965							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)			AGTCTCAGCTCGGCCATTCTT	0.517													C|||	1	0.000199681	8e-04	0	5008	,	,		19323	0		0	False		,,,				2504	0																0								C	LYS/GLU	0,4406		0,0,2203	196	169	178		2893	5.8	1	20		178	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNFX1	NM_021035.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	965/1919	47871098	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2893G>A	20.37:g.47871098C>T	ENSP00000379412:p.Glu965Lys		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1	p.E965K	ENST00000396105.1	37	c.2893	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.467789	0.96257	0.0	1.16E-4	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105	T;D;D	0.82255	1.94;-1.59;-1.59	5.83	5.83	0.93111	.	0.044929	0.85682	D	0.000000	D	0.83585	0.5286	L	0.38692	1.165	0.58432	D	0.999994	D	0.58620	0.983	P	0.54460	0.753	T	0.79293	-0.1863	10	0.19147	T	0.46	-27.025	18.6856	0.91562	0.0:1.0:0.0:0.0	.	965	Q9P2E3	ZNFX1_HUMAN	K	965	ENSP00000360819:E965K;ENSP00000360817:E965K;ENSP00000379412:E965K	ENSP00000360817:E965K	E	-	1	0	ZNFX1	47304505	0.998000	0.40836	0.997000	0.53966	0.994000	0.84299	3.872000	0.56085	2.763000	0.94921	0.561000	0.74099	GAG	ZNFX1	-	superfamily_P-loop_NTPase	ENSG00000124201		0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2		0	38	0	C	NM_021035		47871098	-1			no_errors	ENST00000371752	ensembl	human	known	74_37	missense	48.15	14	13	SNP	1.000	T	T	47871098	C	T	47871098	3	4	142	1	0	0	0	0	1	0	0	0	18253	893	31	1	2883	1	ZNFX1	20	47871098	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	8126164	47871098	15154422	159	36167											
C20orf151	140893	genome.wustl.edu	37	chr20	60990853	60990853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccacagcaccttctccccGtaggcccacgccctggtggt	5	7	9	20	2	1	0	0	0	1	0	2	0	1	0	7	3	1	2	7	3	1	2			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:60990853G>A	ENST00000252998.1	-	7	691	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	179						extracellular space (GO:0005615)											CCTTCTCCCCGTAGGCCCACG	0.716																																																	0													33	36	35					20																	60990853		2202	4299	6501	SO:0001583	missense	0			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.535C>T	20.37:g.60990853G>A	ENSP00000252998:p.Arg179Trp		B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	pfam_CtIP_N	p.R179W	ENST00000252998.1	37	c.535	CCDS13498.1	20	.	.	.	.	.	.	.	.	.	.	G	9.929	1.214210	0.22289	.	.	ENSG00000130701	ENST00000252998	T	0.18810	2.19	3.68	-3.86	0.04230	.	2.806820	0.01602	N	0.022102	T	0.15219	0.0367	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29305	-1.0016	10	0.56958	D	0.05	.	5.5155	0.16904	0.5599:0.0:0.2939:0.1462	.	179	Q8NC74	CT151_HUMAN	W	179	ENSP00000252998:R179W	ENSP00000252998:R179W	R	-	1	2	C20orf151	60424248	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.234000	0.09028	-0.927000	0.03766	-0.390000	0.06520	CGG	RBBP8NL	-	NULL	ENSG00000130701		0.716	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP8NL	HGNC	protein_coding	OTTHUMT00000080029.1		0	21	0	G	NM_080833		60990853	-1			no_errors	ENST00000252998	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.000	A	A	60990853	G	A	60990853	3	1	142	1	0	0	0	0	1	0	0	0	2098	1144	40	1	1491	1	C20orf151	20	60990853	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	13119755	60990853	2034667	160	36168											
OPRL1	4987	genome.wustl.edu	37	chr20	62729634	62729634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctctccctgcagagatcGagtgcctggtggagatccct	6	12	11	12	1	1	2	0	0	1	2	5	5	3	2	3	2	2	1	3	2	0	1			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:62729634G>A	ENST00000349451.3	+	6	1007	c.595G>A	c.(595-597)Gag>Aag	p.E199K	OPRL1_ENST00000355631.4_Missense_Mutation_p.E199K|OPRL1_ENST00000336866.2_Missense_Mutation_p.E199K	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	199					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCAGAGATCGAGTGCCTGGT	0.637																																																	0													174	141	153					20																	62729634		2203	4298	6501	SO:0001583	missense	0				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.595G>A	20.37:g.62729634G>A	ENSP00000336764:p.Glu199Lys		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.E199K	ENST00000349451.3	37	c.595	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166571	0.78339	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.37235	1.21;1.21;1.21	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.052002	0.85682	D	0.000000	T	0.50531	0.1621	L	0.55213	1.73	0.80722	D	1	D;D	0.67145	0.964;0.996	P;P	0.57720	0.536;0.826	T	0.46992	-0.9151	10	0.35671	T	0.21	.	17.6656	0.88202	0.0:0.0:1.0:0.0	.	194;199	P41146-2;P41146	.;OPRX_HUMAN	K	199	ENSP00000336843:E199K;ENSP00000347848:E199K;ENSP00000336764:E199K	ENSP00000336843:E199K	E	+	1	0	OPRL1	62200078	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.561000	0.98142	2.166000	0.68216	0.555000	0.69702	GAG	OPRL1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_Neuropept_B/W_rcpt	ENSG00000125510		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	HGNC	protein_coding	OTTHUMT00000080295.1		0	35	0	G	NM_182647		62729634	1			no_errors	ENST00000336866	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	A	A	62729634	G	A	62729634	3	1	142	1	0	0	0	0	1	0	0	0	10925	1059	37	1	605	1	OPRL1	20	62729634	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	1738781	62729634	295886	161	36169											
EP300	2033	genome.wustl.edu	37	chr22	41536233	41536233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atatgctcggaaagttgaagGggacatgtatgaatctgcaa	14	10	12	5	1	1	2	0	2	1	0	2	4	1	4	0	3	2	4	0	3	6	3			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr22:41536233G>T	ENST00000263253.7	+	9	3069	c.1850G>T	c.(1849-1851)gGg>gTg	p.G617V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	617	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				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						AAAGTTGAAGGGGACATGTAT	0.408			"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													169	170	170					22																	41536233		2203	4300	6503	SO:0001583	missense	0	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.1850G>T	22.37:g.41536233G>T	ENSP00000263253:p.Gly617Val		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.G617V	ENST00000263253.7	37	c.1850	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952994	0.92660	.	.	ENSG00000100393	ENST00000263253	D	0.85171	-1.95	5.29	5.29	0.74685	Coactivator CBP, KIX (4);	0.000000	0.49305	D	0.000143	D	0.92126	0.7504	M	0.72479	2.2	0.80722	D	1	D	0.65815	0.995	D	0.79108	0.992	D	0.92636	0.6120	10	0.87932	D	0	-6.9567	19.2942	0.94115	0.0:0.0:1.0:0.0	.	617	Q09472	EP300_HUMAN	V	617	ENSP00000263253:G617V	ENSP00000263253:G617V	G	+	2	0	EP300	39866179	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.813000	0.99286	2.627000	0.88993	0.467000	0.42956	GGG	EP300	-	pfam_KIX_dom,superfamily_KIX_dom,pfscan_KIX_dom	ENSG00000100393		0.408	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1		0	117	0	G	NM_001429		41536233	1			no_errors	ENST00000263253	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	41536233	G	T	41536233	3	4	142	1	0	0	0	0	1	0	0	0	5164	1232	43	3	1884	3	EP300	22	41536233	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09		41536233	9768333	162	36170											
EFCAB6	64800	genome.wustl.edu	37	chr22	44083441	44083441	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	attgcttccaattgattttaGtggtggctttaagtccaaat	10	17	8	6	0	0	1	0	1	0	0	2	1	2	1	2	2	1	2	2	2	4	7			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr22:44083441G>T	ENST00000262726.7	-	11	1305	c.1052C>A	c.(1051-1053)aCt>aAt	p.T351N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.T199N|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	351			T -> A (in dbSNP:rs5764214). {ECO:0000269|PubMed:14702039}.		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)				ATTGATTTTAGTGGTGGCTTT	0.328																																																	0													59	59	59					22																	44083441		2203	4300	6503	SO:0001583	missense	0			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.1052C>A	22.37:g.44083441G>T	ENSP00000262726:p.Thr351Asn		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.T351N	ENST00000262726.7	37	c.1052	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	0.575	-0.839480	0.02692	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.07021	3.23;3.23	4.68	-5.81	0.02340	.	1.984030	0.02128	N	0.056195	T	0.10852	0.0265	L	0.57536	1.79	0.09310	N	1	B;B	0.15141	0.012;0.01	B;B	0.13407	0.009;0.008	T	0.40553	-0.9557	10	0.18710	T	0.47	0.2565	15.1856	0.72999	0.0:0.7186:0.1692:0.1122	.	351;351	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	N	199;351	ENSP00000379533:T199N;ENSP00000262726:T351N	ENSP00000262726:T351N	T	-	2	0	EFCAB6	42414774	0.000000	0.05858	0.000000	0.03702	0.957000	0.61999	-1.200000	0.03029	-0.566000	0.06054	0.655000	0.94253	ACT	EFCAB6	-	NULL	ENSG00000186976		0.328	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1		0	158	0	G	NM_022785		44083441	-1			no_errors	ENST00000262726	ensembl	human	known	74_37	missense	38.96	47	30	SNP	0.000	T	T	44083441	G	T	44083441	3	4	142	1	0	0	0	0	1	0	0	0	4953	1029	36	3	3541	3	EFCAB6	22	44083441	Missense_Mutation	SNP	G	TCGA-R6-A6L4-01A-11D-A31U-09	2547208	44083441	7221125	163	36171											
KCND1	3750	genome.wustl.edu	37	chrX	48826500	48826500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaaggtgtctgggtagCggtccagcgtattcttccaa	8	10	12	11	2	2	0	0	0	2	0	4	0	4	0	3	3	3	3	3	3	4	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chrX:48826500C>T	ENST00000218176.3	-	1	1476	c.179G>A	c.(178-180)cGc>cAc	p.R60H	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	60					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	GTCTGGGTAGCGGTCCAGCGT	0.587																																																	0													47	31	36					X																	48826500		2203	4300	6503	SO:0001583	missense	0			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.179G>A	X.37:g.48826500C>T	ENSP00000218176:p.Arg60His		A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.R60H	ENST00000218176.3	37	c.179	CCDS14314.1	X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071084	0.76301	.	.	ENSG00000102057	ENST00000218176	T	0.48522	0.81	4.25	4.25	0.50352	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	P	0.58210	0.835	T	0.78628	-0.2130	10	0.87932	D	0	.	14.8625	0.70392	0.0:1.0:0.0:0.0	.	60	Q9NSA2	KCND1_HUMAN	H	60	ENSP00000218176:R60H	ENSP00000218176:R60H	R	-	2	0	KCND1	48711444	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	4.833000	0.62766	2.096000	0.63516	0.513000	0.50165	CGC	KCND1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000102057		0.587	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND1	HGNC	protein_coding	OTTHUMT00000060774.1		0	17	0	C	NM_004979		48826500	-1			no_errors	ENST00000218176	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T	T	48826500	C	T	48826500	3	4	142	1	0	0	0	0	1	0	0	0	8045	768	27	1	1788	1	KCND1	23	48826500	Missense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09		48826500	106444060	164	36172											
TAF1	6872	genome.wustl.edu	37	chrX	70609454	70609454	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgctggctatggtgagaAatccttttttgctccagaag	9	13	12	7	0	0	2	0	1	0	2	2	4	2	3	2	3	2	3	2	3	3	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chrX:70609454A>T	ENST00000373790.4	+	18	2768	c.2717A>T	c.(2716-2718)aAa>aTa	p.K906I	TAF1_ENST00000449580.1_Missense_Mutation_p.K906I|TAF1_ENST00000276072.3_Missense_Mutation_p.K927I|TAF1_ENST00000423759.1_Missense_Mutation_p.K927I	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	906	Histone acetyltransferase (HAT).				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)				TATGGTGAGAAATCCTTTTTT	0.338																																																	0													112	103	106					X																	70609454		2203	4300	6503	SO:0001583	missense	0				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.2717A>T	X.37:g.70609454A>T	ENSP00000362895:p.Lys906Ile		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.K906I	ENST00000373790.4	37	c.2717	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	24.0	4.487961	0.84854	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	4.98	4.98	0.66077	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.52364	1.645	0.80722	D	1	D;D;D	0.58620	0.983;0.977;0.972	P;D;D	0.67900	0.882;0.954;0.924	T	0.07654	-1.0761	10	0.87932	D	0	.	13.9905	0.64362	1.0:0.0:0.0:0.0	.	906;906;927	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	I	906;906;927;927	ENSP00000362895:K906I;ENSP00000389000:K906I;ENSP00000406549:K927I;ENSP00000276072:K927I	ENSP00000276072:K927I	K	+	2	0	TAF1	70526179	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.832000	0.92079	1.749000	0.51849	0.412000	0.27726	AAA	TAF1	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000147133		0.338	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2		0	42	0	A	NM_004606		70609454	1			no_errors	ENST00000449580	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T	T	70609454	A	T	70609454	3	4	142	1	0	0	0	0	1	0	0	0	15560	14	1	5	2850	5	TAF1	23	70609454	Missense_Mutation	SNP	A	TCGA-R6-A6L4-01A-11D-A31U-09	21782954	70609454	84661106	165	36173											
TBX22	50945	genome.wustl.edu	37	chrX	79283495	79283495	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactctcttttttaggggtgTattggatgggcttttagaga	7	17	13	4	0	1	1	0	0	1	1	2	4	1	2	0	4	0	2	0	4	3	7			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chrX:79283495T>C	ENST00000373294.5	+	7	897	c.869T>C	c.(868-870)gTa>gCa	p.V290A	TBX22_ENST00000373291.1_Missense_Mutation_p.V170A|TBX22_ENST00000442340.1_Missense_Mutation_p.V170A|TBX22_ENST00000373296.3_Missense_Mutation_p.V290A	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	290					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTAGGGGTGTATTGGATGGG	0.373																																																	0													91	82	85					X																	79283495		2203	4300	6503	SO:0001583	missense	0			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.869T>C	X.37:g.79283495T>C	ENSP00000362390:p.Val290Ala		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.V290A	ENST00000373294.5	37	c.869	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	t	0.099	-1.154920	0.01700	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.86366	-2.11;-1.83;-2.11;-1.83	3.88	2.7	0.31948	.	0.518829	0.17552	N	0.170128	T	0.81837	0.4907	M	0.64997	1.995	0.43000	D	0.994519	B	0.10296	0.003	B	0.09377	0.004	T	0.70267	-0.4919	10	0.15952	T	0.53	.	7.7656	0.28978	0.0:0.1049:0.0:0.8951	.	290	Q9Y458	TBX22_HUMAN	A	290;170;290;170	ENSP00000362393:V290A;ENSP00000396394:V170A;ENSP00000362390:V290A;ENSP00000362388:V170A	ENSP00000362388:V170A	V	+	2	0	TBX22	79170151	1.000000	0.71417	0.962000	0.40283	0.485000	0.33311	4.652000	0.61454	0.501000	0.28013	-0.326000	0.08463	GTA	TBX22	-	NULL	ENSG00000122145		0.373	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1		0	74	0	T	NM_016954		79283495	1			no_errors	ENST00000373294	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.994	C	C	79283495	T	C	79283495	3	2	142	1	0	0	0	0	1	0	0	0	15705	1638	57	4	895	4	TBX22	23	79283495	Missense_Mutation	SNP	T	TCGA-R6-A6L4-01A-11D-A31U-09	8674041	79283495	75987065	166	36174											
IL1RAPL2	26280	genome.wustl.edu	37	chrX	105011435	105011435	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagattcaatgcaaatCaggcactgttgcagaggtta	12	11	9	9	0	3	2	3	0	0	2	3	2	3	2	1	2	2	5	1	2	3	4			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chrX:105011435C>A	ENST00000372582.1	+	11	2598	c.1842C>A	c.(1840-1842)atC>atA	p.I614I	IL1RAPL2_ENST00000344799.4_Silent_p.I614I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	614					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAATGCAAATCAGGCACTGTT	0.488																																																	0													113	103	106					X																	105011435		2203	4300	6503	SO:0001819	synonymous_variant	0			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1842C>A	X.37:g.105011435C>A			Q2M3U3|Q9NZN0	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ	p.I614	ENST00000372582.1	37	c.1842	CCDS14517.1	X																																																																																			IL1RAPL2	-	NULL	ENSG00000189108		0.488	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1		0	19	0	C	NM_017416		105011435	1			no_errors	ENST00000344799	ensembl	human	known	74_37	silent	72.73	3	8	SNP	1.000	A	A	105011435	C	A	105011435	2	1	142	1	0	0	0	0	0	0	0	1	7689	816	29	3		3	IL1RAPL2	23	105011435	Silent	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09	25727940	105011435	50259125	167	36175											
USP9Y	8287	genome.wustl.edu	37	chrY	14924810	14924810	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcatccaaagtttacctgCagtatttaagaagtggagaa	14	10	9	8	1	0	2	0	0	0	2	1	3	1	2	3	1	2	4	3	1	6	5			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chrY:14924810C>T	ENST00000338981.3	+	31	5377	c.4432C>T	c.(4432-4434)Cag>Tag	p.Q1478*	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1478					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						AGTTTACCTGCAGTATTTAAG	0.378																																																	0													78	69	71					Y																	14924810		609	1952	2561	SO:0001587	stop_gained	0			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.4432C>T	Y.37:g.14924810C>T	ENSP00000342812:p.Gln1478*		O14601	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67	p.Q1478*	ENST00000338981.3	37	c.4432	CCDS14781.1	Y																																																																																			USP9Y	-	NULL	ENSG00000114374		0.378	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP9Y	HGNC	protein_coding	OTTHUMT00000088703.2		0	27	0	C	NM_004654		14924810	1			no_errors	ENST00000338981	ensembl	human	known	74_37	nonsense	64.71	6	11	SNP	1.000	T	T	14924810	C	T	14924810	4	4	142	1	0	0	0	0	0	1	0	0	17140	711	25	3	4546	3	USP9Y	24	14924810	Nonsense_Mutation	SNP	C	TCGA-R6-A6L4-01A-11D-A31U-09		14924810	44448756	168	36176											
RERE	473	genome.wustl.edu	37	chr1	8416274	8416274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggggaccggcagtcagggGgtcgaccagcgggtgaacgg	7	4	21	9	4	1	1	1	1	0	0	2	3	1	2	2	7	2	1	2	7	1	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:8416274G>T	ENST00000337907.3	-	22	5006	c.4372C>A	c.(4372-4374)Ccc>Acc	p.P1458T	RERE_ENST00000400908.2_Missense_Mutation_p.P1458T|RERE_ENST00000377464.1_Missense_Mutation_p.P1190T|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.P904T	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1458	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)		GCAGTCAGGGGGTCGACCAGC	0.637																																																	0													38	44	42					1																	8416274		2203	4300	6503	SO:0001583	missense	0			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.4372C>A	1.37:g.8416274G>T	ENSP00000338629:p.Pro1458Thr		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.P1458T	ENST00000337907.3	37	c.4372	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591320	0.86851	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	T;T;T	0.57273	0.41;0.43;0.41	5.97	5.97	0.96955	.	.	.	.	.	T	0.74520	0.3727	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75560	-0.3275	9	0.87932	D	0	-23.2468	19.4161	0.94700	0.0:0.0:1.0:0.0	.	1458	Q9P2R6	RERE_HUMAN	T	1458;1190;904;1458;114	ENSP00000338629:P1458T;ENSP00000366684:P1190T;ENSP00000383700:P1458T	ENSP00000338629:P1458T	P	-	1	0	RERE	8338861	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	9.798000	0.99111	2.837000	0.97791	0.655000	0.94253	CCC	RERE	-	pfam_Atrophin-like	ENSG00000142599		0.637	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	-	0	95	0	G			8416274	-1	tier1	-	no_errors	ENST00000337907	ensembl	human	known	74_37	missense	29.09	39	16	SNP	1.000	T	T	8416274	G	T	8416274	3	4	143	1	0	0	0	0	1	0	0	0	13276	1232	43	3	340	3	RERE	1	8416274	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09		8416274	240834347	1	36177											
SESN2	83667	genome.wustl.edu	37	chr1	28601526	28601526	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcgtctttggcatcaGgtgagctcatatcccttcat	7	13	8	13	1	4	1	3	1	1	0	5	1	5	1	2	2	2	2	2	2	1	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:28601526G>T	ENST00000253063.3	+	8	1532	c.1211G>T	c.(1210-1212)aGa>aTa	p.R404I		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	404					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGGCATCAGGTGAGCTCAT	0.468																																																	0													96	69	78					1																	28601526		2203	4300	6503	SO:0001630	splice_region_variant	0			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1211+1G>T	1.37:g.28601526G>T			Q5T7D0|Q96SI5	Missense_Mutation	SNP	pfam_PA26	p.R404I	ENST00000253063.3	37	c.1211	CCDS321.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796848	0.90453	.	.	ENSG00000130766	ENST00000253063	T	0.30182	1.54	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.53129	-0.8482	10	0.46703	T	0.11	-11.9933	17.1465	0.86767	0.0:0.0:1.0:0.0	.	404	P58004	SESN2_HUMAN	I	404	ENSP00000253063:R404I	ENSP00000253063:R404I	R	+	2	0	SESN2	28474113	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.171000	0.94802	2.575000	0.86900	0.655000	0.94253	AGA	SESN2	-	pfam_PA26	ENSG00000130766		0.468	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	-	0	33	0	G		Missense_Mutation	28601526	1	tier1	-	no_errors	ENST00000253063	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	28601526	G	T	28601526	5	4	143	1	0	0	0	0	0	0	1	0	14170	1014	35	3	1241	3	SESN2	1	28601526	Splice_Site	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	20185252	28601526	220649095	2	36178											
BSDC1	55108	genome.wustl.edu	37	chr1	32844434	32844434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcgtcaaacaattccGggggccctgcagagggacag	10	4	15	12	2	1	1	1	0	0	1	2	2	2	2	3	4	2	1	3	4	2	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:32844434G>T	ENST00000455895.2	-	6	452	c.419C>A	c.(418-420)cCg>cAg	p.P140Q	BSDC1_ENST00000413080.1_Missense_Mutation_p.P140Q|BSDC1_ENST00000526031.1_Missense_Mutation_p.P45Q|BSDC1_ENST00000449308.1_Missense_Mutation_p.P140Q|BSDC1_ENST00000341071.7_Missense_Mutation_p.P157Q|BSDC1_ENST00000446293.2_Missense_Mutation_p.P157Q|BSDC1_ENST00000419121.2_Missense_Mutation_p.P84Q	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	140										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAACAATTCCGGGGGCCCTGC	0.552																																																	0													20	20	20					1																	32844434		2194	4274	6468	SO:0001583	missense	0			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.419C>A	1.37:g.32844434G>T	ENSP00000412173:p.Pro140Gln		B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.P157Q	ENST00000455895.2	37	c.470	CCDS363.2	1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886633	0.51908	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000325745;ENST00000446293;ENST00000449308;ENST00000527163;ENST00000530485	.	.	.	5.75	3.9	0.45041	.	0.092204	0.85682	D	0.000000	T	0.49081	0.1536	L	0.38838	1.175	0.80722	D	1	B;B;B;B;B	0.33345	0.409;0.059;0.304;0.344;0.175	B;B;B;B;B	0.37239	0.244;0.108;0.23;0.166;0.216	T	0.44251	-0.9340	9	0.38643	T	0.18	-8.1257	12.3611	0.55203	0.1367:0.0:0.8633:0.0	.	45;84;157;157;140	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	Q	140;140;157;45;84;140;157;140;74;101	.	ENSP00000317670:P140Q	P	-	2	0	BSDC1	32617021	0.993000	0.37304	1.000000	0.80357	0.965000	0.64279	2.234000	0.43035	0.927000	0.37143	-0.119000	0.15052	CCG	BSDC1	-	NULL	ENSG00000160058		0.552	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3		0	62	0	G	NM_018045		32844434	-1			no_errors	ENST00000341071	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	32844434	G	T	32844434	3	4	143	1	0	0	0	0	1	0	0	0	1532	1116	39	2	897	2	BSDC1	1	32844434	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	4242908	32844434	216406187	3	36179											
PIK3R3	8503	genome.wustl.edu	37	chr1	46511589	46511589	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatccccagagaagacttaCaccacagagcaagcatagca	17	5	7	12	0	0	3	0	0	0	3	1	4	1	3	3	0	4	3	3	0	5	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:46511589C>A	ENST00000262741.5	-	9	1877		c.e9+1		RP4-533D7.4_ENST00000450004.1_RNA|PIK3R3_ENST00000340332.6_Splice_Site|PIK3R3_ENST00000420542.1_Splice_Site|PIK3R3_ENST00000423209.1_Splice_Site|PIK3R3_ENST00000372006.1_Splice_Site|PIK3R3_ENST00000488808.1_Splice_Site|PIK3R3_ENST00000354242.4_Splice_Site|PIK3R3_ENST00000540385.1_Splice_Site	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)						insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	AGAAGACTTACACCACAGAGC	0.363																																																	0													162	150	154					1																	46511589		2203	4300	6503	SO:0001630	splice_region_variant	0			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1187+1G>T	1.37:g.46511589C>A			B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Splice_Site	SNP	-	e9+1	ENST00000262741.5	37	c.1325+1	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506860	0.85282	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.433	0.94779	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIK3R3	46284176	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.779000	0.95612	0.655000	0.94253	.	PIK3R3	-	-	ENSG00000117461		0.363	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1		0	27	0	C	NM_003629	Intron	46511589	-1			no_errors	ENST00000540385	ensembl	human	known	74_37	splice_site	9.09	40	4	SNP	1.000	A	A	46511589	C	A	46511589	5	1	143	1	0	0	0	0	0	0	1	0	11959	492	17	3	205	3	PIK3R3	1	46511589	Splice_Site	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	13667155	46511589	202739032	4	36180											
MYSM1	114803	genome.wustl.edu	37	chr1	59137558	59137558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacctttttgttggtcttgGcacttttaaagatttaacag	10	17	7	7	0	1	1	0	0	1	1	1	1	1	1	1	2	1	2	1	2	3	8			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:59137558G>A	ENST00000472487.1	-	12	1684	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	549					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)					GTTGGTCTTGGCACTTTTAAA	0.318																																																	0													123	114	117					1																	59137558		1816	4090	5906	SO:0001583	missense	0			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.1645C>T	1.37:g.59137558G>A	ENSP00000418734:p.Pro549Ser		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom	p.P549S	ENST00000472487.1	37	c.1645	CCDS41343.1	1	.	.	.	.	.	.	.	.	.	.	G	2.856	-0.237296	0.05944	.	.	ENSG00000162601	ENST00000472487	T	0.20738	2.05	4.69	3.72	0.42706	.	0.327537	0.34025	N	0.004340	T	0.08268	0.0206	N	0.16307	0.4	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.38373	-0.9664	10	0.02654	T	1	-0.3121	2.6302	0.04941	0.274:0.0:0.5:0.226	.	549	Q5VVJ2	MYSM1_HUMAN	S	549	ENSP00000418734:P549S	ENSP00000418734:P549S	P	-	1	0	MYSM1	58910146	0.995000	0.38212	0.975000	0.42487	0.997000	0.91878	2.181000	0.42547	1.050000	0.40346	0.650000	0.86243	CCA	MYSM1	-	NULL	ENSG00000162601		0.318	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYSM1	HGNC	protein_coding	OTTHUMT00000026343.2		0	36	0	G	XM_055481		59137558	-1			no_errors	ENST00000472487	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.361	A	A	59137558	G	A	59137558	3	1	143	1	0	0	0	0	1	0	0	0	10139	1203	42	3	877	3	MYSM1	1	59137558	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	12625969	59137558	190113063	5	36181											
JUN	3725	genome.wustl.edu	37	chr1	59248515	59248516	+	Frame_Shift_Ins	INS	-	-	AG																															actggattatcaggcgctccINSagctcgggcgacgccagctt																										TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:59248515_59248516insAG	ENST00000371222.2	-	1	1269_1270	c.227_228insCT	c.(226-228)ctgfs	p.L76fs	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	76					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|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 cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|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 transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	TCAGGCGCTCCAGCTCGGGCGA	0.668			A		sarcoma																																			Dom	yes		1	1p32-p31	3725	jun oncogene		M	0																																										SO:0001589	frameshift_variant	0			AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.226_227dupCT	1.37:g.59248516_59248517dupAG	ENSP00000360266:p.Leu76fs		Q6FHM7|Q96G93	Frame_Shift_Ins	INS	pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.E77fs	ENST00000371222.2	37	c.228_227	CCDS610.1	1																																																																																			JUN	-	pfam_JNK	ENSG00000177606		0.668	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUN	HGNC	protein_coding	OTTHUMT00000023042.1		0	70	0	-	NM_002228		59248516	-1	tier1		no_errors	ENST00000371222	ensembl	human	known	74_37	frame_shift_ins	34.55	36	19	INS	1.000:1.000	AG	AG	59248516	-	AG	59248515	7	5	143	1	0	1	1	0	0	0	0	0	7996	581	21	0	771	0	JUN	1	59248515	Frame_Shift_Ins	INS	-	TCGA-R6-A6L6-01B-11D-A33E-09	110957	59248515	190002106	6	36182											
DNAJC6	9829	genome.wustl.edu	37	chr1	65871646	65871647	+	Frame_Shift_Ins	INS	-	-	TA																															cagaaggcgtctccccagccINStatgggtggcgggtggcagc																								rs373611651		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:65871646_65871647insTA	ENST00000395325.3	+	16	2307_2308	c.2150_2151insTA	c.(2149-2154)cctatgfs	p.M718fs	DNAJC6_ENST00000371069.4_Frame_Shift_Ins_p.M775fs|DNAJC6_ENST00000263441.7_Frame_Shift_Ins_p.M705fs	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	718	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCTCCCCAGCCTATGGGTGGCG	0.614																																																	0																																										SO:0001589	frameshift_variant	0			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.2151_2152dupTA	1.37:g.65871647_65871648dupTA	ENSP00000378735:p.Met718fs		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Frame_Shift_Ins	INS	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.M775fs	ENST00000395325.3	37	c.2321_2322	CCDS30739.1	1																																																																																			DNAJC6	-	NULL	ENSG00000116675		0.614	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1		0	65	0	-			65871647	1	tier1		no_errors	ENST00000371069	ensembl	human	known	74_37	frame_shift_ins	24.62	49	16	INS	0.993:0.111	TA	TA	65871647	-	TA	65871646	7	5	143	1	0	1	1	0	0	0	0	0	4667	681	24	0	2212	0	DNAJC6	1	65871646	Frame_Shift_Ins	INS	-	TCGA-R6-A6L6-01B-11D-A33E-09	6623131	65871646	183378975	7	36183											
SASS6	163786	genome.wustl.edu	37	chr1	100575976	100575976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagctggtggatgttttGttgatggaggatttctaaat	8	18	13	2	0	1	1	0	1	1	0	1	4	1	4	0	4	1	4	0	4	3	7			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:100575976G>T	ENST00000287482.5	-	8	873	c.733C>A	c.(733-735)Caa>Aaa	p.Q245K	SASS6_ENST00000535161.1_Missense_Mutation_p.Q78K|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	245					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TGGATGTTTTGTTGATGGAGG	0.348																																																	0													158	150	153					1																	100575976		2203	4299	6502	SO:0001583	missense	0			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.733C>A	1.37:g.100575976G>T	ENSP00000287482:p.Gln245Lys		D3DT55|Q8N3K0	Missense_Mutation	SNP	NULL	p.Q245K	ENST00000287482.5	37	c.733	CCDS764.1	1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416612	0.25552	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.79454	-1.27;-1.27	5.31	3.22	0.36961	.	0.151861	0.56097	D	0.000028	T	0.36826	0.0981	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.25813	-1.0121	10	0.27082	T	0.32	-2.5554	12.6359	0.56683	0.0:0.0:0.5781:0.4219	.	245	Q6UVJ0	SAS6_HUMAN	K	245;218;78	ENSP00000287482:Q245K;ENSP00000440169:Q78K	ENSP00000287482:Q245K	Q	-	1	0	SASS6	100348564	0.115000	0.22152	0.095000	0.20976	0.818000	0.46254	2.292000	0.43549	1.193000	0.43086	0.655000	0.94253	CAA	SASS6	-	NULL	ENSG00000156876		0.348	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	-	0	41	0	G	NM_194292		100575976	-1	tier1	-	no_errors	ENST00000287482	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.239	T	T	100575976	G	T	100575976	3	4	143	1	0	0	0	0	1	0	0	0	13895	1386	48	3	1280	3	SASS6	1	100575976	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	34704330	100575976	148674645	8	36184											
C1orf103	55791	genome.wustl.edu	37	chr1	111494956	111494956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggctggaatctgtaaatGatgcccagaaggcaaaactg	14	8	12	7	0	1	2	0	1	1	1	1	3	1	3	1	3	2	3	1	3	6	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:111494956G>A	ENST00000369763.4	-	2	940	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ATCTGTAAATGATGCCCAGAA	0.453																																																	0													61	59	60					1																	111494956		2203	4300	6503	SO:0001583	missense	0			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.550C>T	1.37:g.111494956G>A	ENSP00000358778:p.His184Tyr		Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	NULL	p.H184Y	ENST00000369763.4	37	c.550	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503238	0.44558	.	.	ENSG00000121931	ENST00000369763	T	0.28895	1.59	5.08	5.08	0.68730	.	0.231528	0.37623	N	0.002018	T	0.25005	0.0607	L	0.29908	0.895	0.80722	D	1	P	0.51240	0.943	P	0.51582	0.674	T	0.02371	-1.1169	10	0.62326	D	0.03	-2.3658	16.3294	0.83004	0.0:0.0:1.0:0.0	.	184	Q5T3J3	LRIF1_HUMAN	Y	184	ENSP00000358778:H184Y	ENSP00000358778:H184Y	H	-	1	0	LRIF1	111296479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.653000	0.67967	2.524000	0.85096	0.467000	0.42956	CAT	LRIF1	-	NULL	ENSG00000121931		0.453	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	-	0	47	0	G	NM_018372		111494956	-1	tier1	-	no_errors	ENST00000369763	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	A	A	111494956	G	A	111494956	3	1	143	1	0	0	0	0	1	0	0	0	1984	1290	45	3	1771	3	C1orf103	1	111494956	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	10918980	111494956	137755665	9	36185											
RSBN1	54665	genome.wustl.edu	37	chr1	114340623	114340623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcttcaagacaaaatcatCggctctctgggttttaccat	10	15	6	10	1	4	1	2	0	2	1	6	1	4	1	1	2	1	2	1	2	4	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:114340623C>T	ENST00000261441.5	-	2	802	c.739G>A	c.(739-741)Gat>Aat	p.D247N		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	247						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)		ACAAAATCATCGGCTCTCTGG	0.363																																																	0													91	96	94					1																	114340623		2194	4287	6481	SO:0001583	missense	0			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.739G>A	1.37:g.114340623C>T	ENSP00000261441:p.Asp247Asn		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.D247N	ENST00000261441.5	37	c.739	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280147	0.80692	.	.	ENSG00000081019	ENST00000261441	.	.	.	6.17	6.17	0.99709	.	0.050938	0.85682	D	0.000000	T	0.59742	0.2216	L	0.44542	1.39	0.51233	D	0.999912	D	0.65815	0.995	P	0.54312	0.748	T	0.60058	-0.7337	9	0.66056	D	0.02	-14.4881	20.8794	0.99867	0.0:1.0:0.0:0.0	.	247	Q5VWQ0	RSBN1_HUMAN	N	247	.	ENSP00000261441:D247N	D	-	1	0	RSBN1	114142146	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.463000	0.80869	2.941000	0.99782	0.655000	0.94253	GAT	RSBN1	-	NULL	ENSG00000081019		0.363	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2		0	32	0	C	NM_018364		114340623	-1			no_errors	ENST00000261441	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	114340623	C	T	114340623	3	4	143	1	0	0	0	0	1	0	0	0	13741	884	31	1	1693	1	RSBN1	1	114340623	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	2845667	114340623	134909998	10	36186											
C1orf161	126868	genome.wustl.edu	37	chr1	116675886	116675886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaacactatttcgtccGgaacagcaacctctttcagt	11	11	6	13	2	2	1	1	1	1	0	4	2	3	2	3	1	4	1	3	1	4	3	rs145242444		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:116675886G>A	ENST00000369500.3	+	7	1254	c.989G>A	c.(988-990)cGg>cAg	p.R330Q		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	330								p.H326fs*11(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TATTTCGTCCGGAACAGCAAC	0.547																																																	1	Deletion - Frameshift(1)	breast(1)						G	GLN/ARG	0,4406		0,0,2203	99	85	90		989	-4.9	0	1	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAB21L3	NM_152367.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	330/363	116675886	1,13005	2203	4300	6503	SO:0001583	missense	0			AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 161"	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.989G>A	1.37:g.116675886G>A	ENSP00000358512:p.Arg330Gln		Q5TDL7	Missense_Mutation	SNP	pfam_Mab-21_dom	p.R330Q	ENST00000369500.3	37	c.989	CCDS886.1	1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166733	0.57476	0.0	1.16E-4	ENSG00000173212	ENST00000369500	T	0.07688	3.17	5.37	-4.95	0.03048	.	1.362290	0.04782	N	0.430008	T	0.03783	0.0107	L	0.50919	1.6	0.09310	N	1	P	0.48407	0.91	B	0.43809	0.432	T	0.39901	-0.9591	10	0.51188	T	0.08	1.1135	10.2217	0.43201	0.2471:0.5382:0.2148:0.0	.	330	Q8N8X9	MB213_HUMAN	Q	330	ENSP00000358512:R330Q	ENSP00000358512:R330Q	R	+	2	0	MAB21L3	116477409	0.001000	0.12720	0.003000	0.11579	0.131000	0.20780	0.156000	0.16382	-0.464000	0.06963	-0.176000	0.13171	CGG	MAB21L3	-	pfam_Mab-21_dom	ENSG00000173212		0.547	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L3	HGNC	protein_coding	OTTHUMT00000033486.1	-	0	80	0	G	NM_152367		116675886	1	tier1	rs145242444	no_errors	ENST00000369500	ensembl	human	known	74_37	missense	45.71	38	32	SNP	0.000	A	A	116675886	G	A	116675886	3	1	143	1	0	0	0	0	1	0	0	0	2016	1116	39	1	1011	1	C1orf161	1	116675886	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	2335263	116675886	132574735	11	36187											
ZNF697	90874	genome.wustl.edu	37	chr1	120165530	120165530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctggtgctgcgtgagcGtggagaagtcgctgaagcgc	6	8	18	9	5	0	3	0	2	0	1	1	4	0	3	0	2	5	3	0	2	2	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:120165530G>T	ENST00000421812.2	-	3	1555	c.1436C>A	c.(1435-1437)aCg>aAg	p.T479K		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CTGCGTGAGCGTGGAGAAGTC	0.647																																																	0													25	29	27					1																	120165530		2203	4300	6503	SO:0001583	missense	0			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1436C>A	1.37:g.120165530G>T	ENSP00000396857:p.Thr479Lys		Q96IT2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T479K	ENST00000421812.2	37	c.1436	CCDS44202.1	1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454403	0.26161	.	.	ENSG00000143067	ENST00000421812	T	0.15256	2.44	5.21	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37577	N	0.002032	T	0.08088	0.0202	N	0.21583	0.68	0.31167	N	0.7037	D	0.58970	0.984	P	0.58210	0.835	T	0.10847	-1.0612	10	0.18276	T	0.48	-13.7465	7.0404	0.25017	0.088:0.0:0.7414:0.1706	.	479	Q5TEC3	ZN697_HUMAN	K	479	ENSP00000396857:T479K	ENSP00000396857:T479K	T	-	2	0	ZNF697	119967053	0.220000	0.23631	1.000000	0.80357	0.113000	0.19764	0.540000	0.23191	1.354000	0.45846	-0.136000	0.14681	ACG	ZNF697	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000143067		0.647	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	HGNC	protein_coding	OTTHUMT00000036349.3		0	49	0	G	XM_371286		120165530	-1			no_errors	ENST00000421812	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	120165530	G	T	120165530	3	4	143	1	0	0	0	0	1	0	0	0	18148	1145	40	2	205	2	ZNF697	1	120165530	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	3489644	120165530	129085091	12	36188											
SNX27	81609	genome.wustl.edu	37	chr1	151611494	151611494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacctagatcccagtgacGactcgttgggacaatcattt	12	11	8	10	2	1	2	1	1	0	1	3	4	2	3	2	1	1	1	2	1	3	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:151611494G>T	ENST00000458013.2	+	2	562	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	SNX27_ENST00000368838.1_Missense_Mutation_p.D55Y|SNX27_ENST00000368843.3_Missense_Mutation_p.D148Y			Q96L92	SNX27_HUMAN	sorting nexin family member 27	148					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)			TCCCAGTGACGACTCGTTGGG	0.468																																					Colon(46;291 966 40145 41237 41888)												0													132	117	122					1																	151611494		2203	4300	6503	SO:0001583	missense	0			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.442G>T	1.37:g.151611494G>T	ENSP00000400333:p.Asp148Tyr		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc	p.D148Y	ENST00000458013.2	37	c.442		1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401066	0.83120	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.54675	0.56;0.57;0.62	4.49	4.49	0.54785	Phox homologous domain (1);PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	M	0.67397	2.05	0.80722	D	1	D;D	0.65815	0.966;0.995	P;D	0.63793	0.906;0.918	T	0.67841	-0.5566	10	0.87932	D	0	.	15.8961	0.79336	0.0:0.0:1.0:0.0	.	148;148	Q96L92;Q96L92-3	SNX27_HUMAN;.	Y	148;148;55	ENSP00000400333:D148Y;ENSP00000357836:D148Y;ENSP00000357831:D55Y	ENSP00000357831:D55Y	D	+	1	0	SNX27	149878118	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	SNX27	-	superfamily_Phox,superfamily_PDZ	ENSG00000143376		0.468	SNX27-003	NOVEL	basic	protein_coding	SNX27	HGNC	protein_coding	OTTHUMT00000036624.3		0	45	0	G	NM_030918		151611494	1			no_errors	ENST00000368843	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	151611494	G	T	151611494	3	4	143	1	0	0	0	0	1	0	0	0	14942	1058	37	2	448	2	SNX27	1	151611494	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	31445964	151611494	97639127	13	36189											
TNFSF4	7292	genome.wustl.edu	37	chr1	173155952	173155952	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgttctgcaccttcatGatttcatcctccttttggga	6	17	8	10	0	3	1	2	1	1	0	5	3	5	2	3	1	1	3	3	1	0	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:173155952G>T	ENST00000281834.3	-	3	391	c.255C>A	c.(253-255)atC>atA	p.I85I	TNFSF4_ENST00000488053.1_5'Flank|TNFSF4_ENST00000367718.1_Silent_p.I35I	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	85					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|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-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.I85I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GCACCTTCATGATTTCATCCT	0.398																																																	1	Substitution - coding silent(1)	endometrium(1)											105	107	106					1																	173155952		2203	4300	6503	SO:0001819	synonymous_variant	0			D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11934	protein-coding gene	gene with protein product		603594	"tax-transcriptionally activated glycoprotein 1, 34kD"	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.255C>A	1.37:g.173155952G>T			Q5JZA5|Q8IV74|Q9HCN9	Silent	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom	p.I85	ENST00000281834.3	37	c.255	CCDS1306.1	1																																																																																			TNFSF4	-	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom	ENSG00000117586		0.398	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF4	HGNC	protein_coding	OTTHUMT00000084271.1		0	24	0	G			173155952	-1			no_errors	ENST00000281834	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.023	T	T	173155952	G	T	173155952	2	4	143	1	0	0	0	0	0	0	0	1	16357	1280	45	3		3	TNFSF4	1	173155952	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	21544458	173155952	76094669	14	36190											
PTPRC	5788	genome.wustl.edu	37	chr1	198687417	198687417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcttcaatattcaacaGactacacttttaaggtaaaa	18	12	4	7	0	3	2	2	0	1	2	3	2	3	2	0	1	2	1	0	1	8	7			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:198687417G>T	ENST00000367376.2	+	14	1810	c.1639G>T	c.(1639-1641)Gac>Tac	p.D547Y	PTPRC_ENST00000594404.1_Missense_Mutation_p.D386Y|PTPRC_ENST00000352140.3_Missense_Mutation_p.D499Y|PTPRC_ENST00000348564.6_Missense_Mutation_p.D388Y|PTPRC_ENST00000442510.2_Missense_Mutation_p.D549Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	547	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATATTCAACAGACTACACTTT	0.328																																																	0													52	50	51					1																	198687417		2202	4300	6502	SO:0001583	missense	0			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.1639G>T	1.37:g.198687417G>T	ENSP00000356346:p.Asp547Tyr		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D549Y	ENST00000367376.2	37	c.1645		1	.	.	.	.	.	.	.	.	.	.	g	3.009	-0.204255	0.06180	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.58210	0.35	4.52	-9.04	0.00734	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.959790	0.02323	N	0.073205	T	0.23451	0.0567	N	0.02391	-0.57	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.003;0.003;0.001;0.002	B;B;B;B;B	0.19391	0.012;0.025;0.006;0.006;0.006	T	0.38972	-0.9636	10	0.66056	D	0.02	.	4.5056	0.11885	0.5134:0.169:0.2316:0.086	.	483;483;388;499;547	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	Y	549;483;499;499;433;547;481;386	ENSP00000193532:D499Y	ENSP00000306782:D386Y	D	+	1	0	PTPRC	196954040	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.417000	0.02464	-3.012000	0.00272	-4.551000	0.00004	GAC	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000081237		0.328	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding			0	30	0	G			198687417	1			no_errors	ENST00000442510	ensembl	human	known	74_37	missense	5.36	52	3	SNP	0.000	T	T	198687417	G	T	198687417	3	4	143	1	0	0	0	0	1	0	0	0	12842	942	33	3	1700	3	PTPRC	1	198687417	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	25531465	198687417	50563204	15	36191											
C1orf74	148304	genome.wustl.edu	37	chr1	209956627	209956627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagggtgacgctggcagctgGaaacatccacaaaggctatg	13	6	13	9	1	0	1	0	1	0	0	1	2	1	2	1	4	2	4	1	4	4	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:209956627G>T	ENST00000294811.1	-	2	609	c.353C>A	c.(352-354)tCc>tAc	p.S118Y		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	118										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		CTGGCAGCTGGAAACATCCAC	0.537																																																	0													57	54	55					1																	209956627		2203	4300	6503	SO:0001583	missense	0			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.353C>A	1.37:g.209956627G>T	ENSP00000294811:p.Ser118Tyr			Missense_Mutation	SNP	NULL	p.S118Y	ENST00000294811.1	37	c.353	CCDS1491.1	1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781536	0.49891	.	.	ENSG00000162757	ENST00000294811	T	0.48836	0.8	5.61	5.61	0.85477	.	0.253476	0.39834	N	0.001255	T	0.68174	0.2972	M	0.67953	2.075	0.44771	D	0.997773	D	0.76494	0.999	D	0.69479	0.964	T	0.69881	-0.5025	10	0.72032	D	0.01	-38.5549	19.2273	0.93822	0.0:0.0:1.0:0.0	.	118	Q96LT6	CA074_HUMAN	Y	118	ENSP00000294811:S118Y	ENSP00000294811:S118Y	S	-	2	0	C1orf74	208023250	0.997000	0.39634	0.973000	0.42090	0.208000	0.24298	4.977000	0.63792	2.652000	0.90054	0.655000	0.94253	TCC	C1orf74	-	NULL	ENSG00000162757		0.537	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf74	HGNC	protein_coding	OTTHUMT00000088745.1	-	0	30	0	G	NM_152485		209956627	-1	tier1	-	no_errors	ENST00000294811	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.996	T	T	209956627	G	T	209956627	3	4	143	1	0	0	0	0	1	0	0	0	2065	1174	41	3	460	3	C1orf74	1	209956627	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	11269210	209956627	39293994	16	36192											
NSL1	25936	genome.wustl.edu	37	chr1	212911901	212911901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgttataaagttctcaGgtttagcatctggtttccta	8	18	8	7	0	3	0	1	0	3	0	5	0	4	0	1	2	1	5	1	2	5	7			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:212911901G>T	ENST00000366977.3	-	6	713	c.695C>A	c.(694-696)cCt>cAt	p.P232H	NSL1_ENST00000366975.6_Missense_Mutation_p.P191H|NSL1_ENST00000366978.1_Intron|NSL1_ENST00000422588.2_3'UTR|NSL1_ENST00000366976.1_3'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	232					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)		AAAGTTCTCAGGTTTAGCATC	0.443																																																	0													169	172	171					1																	212911901		2203	4300	6503	SO:0001583	missense	0			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.695C>A	1.37:g.212911901G>T	ENSP00000355944:p.Pro232His		E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	pfam_Kinetochore_Mis14	p.P232H	ENST00000366977.3	37	c.695	CCDS1509.1	1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839946	0.32513	.	.	ENSG00000117697	ENST00000366977;ENST00000366975	T;T	0.34667	1.35;1.36	5.25	4.34	0.51931	.	0.669453	0.14180	N	0.336082	T	0.52837	0.1759	M	0.61703	1.905	0.20926	N	0.999822	D;D	0.76494	0.999;0.998	D;P	0.69479	0.964;0.87	T	0.40384	-0.9566	10	0.66056	D	0.02	-4.0E-4	8.033	0.30476	0.1925:0.0:0.8075:0.0	.	191;232	B4E071;Q96IY1	.;NSL1_HUMAN	H	232;191	ENSP00000355944:P232H;ENSP00000355942:P191H	ENSP00000355942:P191H	P	-	2	0	NSL1	210978524	0.371000	0.25056	0.015000	0.15790	0.446000	0.32137	2.050000	0.41297	1.349000	0.45751	-0.266000	0.10368	CCT	NSL1	-	NULL	ENSG00000117697		0.443	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSL1	HGNC	protein_coding	OTTHUMT00000089398.2	-	0	51	0	G	NM_015471		212911901	-1	tier1	-	no_errors	ENST00000366977	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.051	T	T	212911901	G	T	212911901	3	4	143	1	0	0	0	0	1	0	0	0	10712	1000	35	3	154	3	NSL1	1	212911901	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	2955274	212911901	36338720	17	36193											
TMEM63A	9725	genome.wustl.edu	37	chr1	226041407	226041407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgagacctggcagccGcagcagctccatgccattgc	9	6	13	13	1	0	1	0	1	0	1	1	4	1	2	4	2	5	4	4	2	0	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:226041407G>A	ENST00000366835.3	-	19	1990	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	574					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)					CCTGGCAGCCGCAGCAGCTCC	0.607																																																	0													52	38	43					1																	226041407		2203	4300	6503	SO:0001583	missense	0				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.1720C>T	1.37:g.226041407G>A	ENSP00000355800:p.Arg574Trp		Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	pfam_DUF221	p.R574W	ENST00000366835.3	37	c.1720	CCDS31042.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598095	0.87055	.	.	ENSG00000196187	ENST00000366835	T	0.35973	1.28	5.45	4.5	0.54988	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	M	0.90082	3.085	0.80722	D	1	D	0.71674	0.998	D	0.64776	0.929	T	0.73836	-0.3857	10	0.87932	D	0	-34.7788	15.6278	0.76874	0.0:0.0:0.8622:0.1378	.	574	O94886	TM63A_HUMAN	W	574	ENSP00000355800:R574W	ENSP00000355800:R574W	R	-	1	2	TMEM63A	224108030	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.285000	0.65633	2.562000	0.86427	0.563000	0.77884	CGG	TMEM63A	-	pfam_DUF221	ENSG00000196187		0.607	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	-	0	74	0	G	NM_014698		226041407	-1	tier1	-	no_errors	ENST00000366835	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A	A	226041407	G	A	226041407	3	1	143	1	0	0	0	0	1	0	0	0	16237	1086	38	1	727	1	TMEM63A	1	226041407	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	13129506	226041407	23209214	18	36194											
FMN2	56776	genome.wustl.edu	37	chr1	240519208	240519208	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaacaatttattattcaaGgtaaattccaaagagatgtg	16	13	8	4	0	1	1	1	0	0	1	2	3	2	2	1	2	1	1	1	2	8	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:240519208G>T	ENST00000319653.9	+	14	5088	c.4858G>T	c.(4858-4860)Gcc>Tcc	p.A1620S	FMN2_ENST00000545751.1_Splice_Site_p.A216S	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1620	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)			TATTATTCAAGGTAAATTCCA	0.308																																																	0													63	58	60					1																	240519208		2203	4300	6503	SO:0001630	splice_region_variant	0			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.4858+1G>T	1.37:g.240519208G>T			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.A1620S	ENST00000319653.9	37	c.4858	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488918	0.64074	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.24723	1.84;1.84	5.93	5.93	0.95920	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.56097	D	0.000022	T	0.50514	0.1620	L	0.58510	1.815	0.80722	D	1	B;B;D	0.64830	0.136;0.136;0.994	B;B;D	0.74023	0.049;0.049;0.982	T	0.40961	-0.9535	10	0.66056	D	0.02	.	19.9643	0.97261	0.0:0.0:1.0:0.0	.	216;249;1620	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	S	1620;216;247;96	ENSP00000318884:A1620S;ENSP00000437918:A216S	ENSP00000318884:A1620S	A	+	1	0	FMN2	238585831	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.618000	0.74214	2.826000	0.97356	0.655000	0.94253	GCC	FMN2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000155816		0.308	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2		0	19	0	G	XM_371352	Missense_Mutation	240519208	1			no_errors	ENST00000319653	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	240519208	G	T	240519208	5	4	143	1	0	0	0	0	0	0	1	0	5972	1014	35	3	4912	3	FMN2	1	240519208	Splice_Site	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	14477801	240519208	8731413	19	36195											
C1orf150	148823	genome.wustl.edu	37	chr1	247737631	247737631	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttaggacttctgttagtAggccttgttcctgcacccat	6	16	8	11	0	2	0	0	0	2	0	3	1	3	1	3	2	1	4	3	2	3	7			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr1:247737631A>T	ENST00000366488.4	+	5	459	c.355A>T	c.(355-357)Agg>Tgg	p.R119W	GCSAML_ENST00000463359.1_Missense_Mutation_p.R87W|GCSAML_ENST00000527084.1_Missense_Mutation_p.R87W|GCSAML_ENST00000366491.2_Missense_Mutation_p.R99W|GCSAML_ENST00000527541.1_Missense_Mutation_p.R87W|GCSAML_ENST00000536561.1_Missense_Mutation_p.R99W|GCSAML_ENST00000366489.1_Missense_Mutation_p.R99W|RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	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	119																	TTCTGTTAGTAGGCCTTGTTC	0.428																																																	0													157	132	141					1																	247737631		2203	4300	6503	SO:0001583	missense	0			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.355A>T	1.37:g.247737631A>T	ENSP00000355444:p.Arg119Trp		B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	NULL	p.R119W	ENST00000366488.4	37	c.355	CCDS1635.1	1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814629	0.50527	.	.	ENSG00000169224	ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000366488;ENST00000536561	.	.	.	3.91	-3.22	0.05125	.	0.941962	0.08722	N	0.903241	T	0.42899	0.1223	M	0.61703	1.905	0.09310	N	1	D	0.69078	0.997	P	0.60173	0.87	T	0.39035	-0.9633	9	0.72032	D	0.01	0.4192	0.9076	0.01288	0.3249:0.1772:0.3249:0.173	.	119	Q5JQS6	CA150_HUMAN	W	87;87;99;99;87;119;99	.	ENSP00000355444:R119W	R	+	1	2	C1orf150	245804254	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.026000	0.12392	-0.369000	0.08028	0.482000	0.46254	AGG	GCSAML	-	NULL	ENSG00000169224		0.428	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCSAML	HGNC	protein_coding	OTTHUMT00000097745.4	-	0	65	0	A	NM_145278		247737631	1	tier1	-	no_errors	ENST00000366488	ensembl	human	known	74_37	missense	21.15	41	11	SNP	0.000	T	T	247737631	A	T	247737631	3	4	143	1	0	0	0	0	1	0	0	0	2011	411	15	5	373	5	C1orf150	1	247737631	Missense_Mutation	SNP	A	TCGA-R6-A6L6-01B-11D-A33E-09	7218423	247737631	1512990	20	36196											
DNAH6	1768	genome.wustl.edu	37	chr2	84930679	84930679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcagtggatcaagaaagtgCcgatcaggtatgctgcagtt	11	9	14	7	1	2	1	2	0	0	1	2	3	2	2	1	3	3	5	1	3	3	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:84930679C>T	ENST00000237449.6	+	49	8230	c.8222C>T	c.(8221-8223)gCc>gTc	p.A2741V	DNAH6_ENST00000389394.3_Missense_Mutation_p.A2741V			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2741	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(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						CAAGAAAGTGCCGATCAGGTA	0.368																																																	0													66	58	60					2																	84930679		692	1591	2283	SO:0001583	missense	0			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.8222C>T	2.37:g.84930679C>T	ENSP00000237449:p.Ala2741Val		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2741V	ENST00000237449.6	37	c.8222	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.098109	0.94197	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.67523	-0.27;-0.27	5.79	5.79	0.91817	Dynein heavy chain, coiled coil stalk (1);	.	.	.	.	T	0.77532	0.4144	L	0.55990	1.75	0.80722	D	1	D	0.64830	0.994	P	0.61477	0.889	T	0.76531	-0.2925	9	0.49607	T	0.09	.	18.8083	0.92047	0.0:1.0:0.0:0.0	.	2741	Q9C0G6	DYH6_HUMAN	V	2741	ENSP00000374045:A2741V;ENSP00000237449:A2741V	ENSP00000237449:A2741V	A	+	2	0	DNAH6	84784190	1.000000	0.71417	0.960000	0.40013	0.978000	0.69477	6.340000	0.72973	2.735000	0.93741	0.563000	0.77884	GCC	DNAH6	-	superfamily_P-loop_NTPase	ENSG00000115423		0.368	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0	36	0	C	NM_001370		84930679	1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	84930679	C	T	84930679	3	4	143	1	0	0	0	0	1	0	0	0	4619	739	26	3	8416	3	DNAH6	2	84930679	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09		84930679	158268694	21	36197											
SFTPB	6439	genome.wustl.edu	37	chr2	85895264	85895266	+	In_Frame_Del	DEL	GCA	GCA	-																															gcctgggccacagagcgtggGcagcagcagcagcagccact																								rs147057701		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:85895264_85895266delGCA	ENST00000519937.2	-	1	60_62	c.41_43delTGC	c.(40-45)ctgccc>ccc	p.L14del	SFTPB_ENST00000393822.3_In_Frame_Del_p.L26del|SFTPB_ENST00000409383.1_In_Frame_Del_p.L26del|SFTPB_ENST00000342375.3_In_Frame_Del_p.L14del			P07988	PSPB_HUMAN	surfactant protein B	14					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGAGCGTGGGCAGCAGCAGCAG	0.64																																																	0									,	56,3532		3,50,1741					,	3.5	0.8		dbSNP_134	24	135,6753		12,111,3321	no	coding,coding	SFTPB	NM_198843.2,NM_000542.3	,	15,161,5062	A1A1,A1R,RR		1.9599,1.5608,1.8232	,	,		191,10285				SO:0001651	inframe_deletion	0			J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"surfactant, pulmonary-associated protein B"	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.41_43delTGC	2.37:g.85895273_85895275delGCA	ENSP00000428719:p.Leu14del		Q96R04	In_Frame_Del	DEL	pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin	p.L26in_frame_del	ENST00000519937.2	37	c.79_77		2																																																																																			SFTPB	-	NULL	ENSG00000168878		0.64	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	SFTPB	HGNC	protein_coding	OTTHUMT00000252499.3		0	32	0	GCA	NM_198843		85895266	-1	tier1		no_errors	ENST00000393822	ensembl	human	known	74_37	in_frame_del	14.29	18	3	DEL	0.966:0.981:0.990	-	-	85895266	GCA	-	85895264	7	5	143	1	0	1	0	1	0	0	0	0	14236	1203	42	0	1142	0	SFTPB	2	85895264	In_Frame_Del	DEL	GCA	TCGA-R6-A6L6-01B-11D-A33E-09	964585	85895264	157304109	22	36198											
THNSL2	55258	genome.wustl.edu	37	chr2	88484950	88484950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgctgtgcccccactcagCggtggccgtgaactaccatt	6	10	10	15	2	1	1	1	1	0	0	1	1	1	1	4	2	5	1	4	2	2	3	rs530167692		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:88484950C>T	ENST00000324166.5	+	7	2872	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.A394V|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000449349.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	394					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						CCCCACTCAGCGGTGGCCGTG	0.592																																																	0													31	36	34					2																	88484950		2203	4300	6503	SO:0001583	missense	0				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.1181C>T	2.37:g.88484950C>T	ENSP00000327323:p.Ala394Val		B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	p.A394V	ENST00000324166.5	37	c.1181	CCDS2002.2	2	.	.	.	.	.	.	.	.	.	.	C	33	5.270727	0.95429	.	.	ENSG00000144115	ENST00000358591;ENST00000324166	T;T	0.35236	1.32;1.32	5.8	5.8	0.92144	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	T	0.70833	0.3269	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77408	-0.2599	10	0.72032	D	0.01	.	19.0512	0.93046	0.0:1.0:0.0:0.0	.	394	Q86YJ6	THNS2_HUMAN	V	394	ENSP00000351402:A394V;ENSP00000327323:A394V	ENSP00000327323:A394V	A	+	2	0	THNSL2	88266065	1.000000	0.71417	0.338000	0.25549	0.825000	0.46686	6.683000	0.74533	2.741000	0.93983	0.650000	0.86243	GCG	THNSL2	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	ENSG00000144115		0.592	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THNSL2	HGNC	protein_coding	OTTHUMT00000252662.1	-	0	55	0	C	NM_018271		88484950	1	tier1	-	no_errors	ENST00000324166	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.990	T	T	88484950	C	T	88484950	3	4	143	1	0	0	0	0	1	0	0	0	15910	768	27	1	1207	1	THNSL2	2	88484950	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	2589686	88484950	154714423	23	36199											
IWS1	55677	genome.wustl.edu	37	chr2	128238661	128238661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatgctgattttcactgCgtgtgcagatctgctttttt	6	18	8	9	1	3	2	2	1	1	1	3	2	3	2	0	0	4	3	0	0	1	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:128238661C>T	ENST00000295321.4	-	14	2678	c.2419G>A	c.(2419-2421)Gca>Aca	p.A807T	AC010976.2_ENST00000454503.2_RNA|AC010976.2_ENST00000596439.1_RNA|AC010976.2_ENST00000599001.1_RNA|AC010976.2_ENST00000598065.1_RNA|AC010976.2_ENST00000595561.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	807	Interaction with SUPT6H and ALYREF.				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)		ATTTTCACTGCGTGTGCAGAT	0.438																																																	0													259	229	239					2																	128238661		2203	4300	6503	SO:0001583	missense	0			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.2419G>A	2.37:g.128238661C>T	ENSP00000295321:p.Ala807Thr		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N	p.A807T	ENST00000295321.4	37	c.2419	CCDS2146.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.271387	0.95429	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.52526	0.66	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.76591	-0.2903	10	0.87932	D	0	-28.8702	19.4441	0.94840	0.0:1.0:0.0:0.0	.	807	Q96ST2	IWS1_HUMAN	T	807;760	ENSP00000295321:A807T	ENSP00000295321:A807T	A	-	1	0	IWS1	127955131	1.000000	0.71417	0.990000	0.47175	0.886000	0.51366	7.512000	0.81728	2.671000	0.90904	0.650000	0.86243	GCA	IWS1	-	NULL	ENSG00000163166		0.438	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2		0	27	0	C	NM_017969		128238661	-1			no_errors	ENST00000295321	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	128238661	C	T	128238661	3	4	143	1	0	0	0	0	1	0	0	0	7958	768	27	1	44	1	IWS1	2	128238661	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	39753711	128238661	114960712	24	36200											
NCKAP5	344148	genome.wustl.edu	37	chr2	133540699	133540699	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	actttccaatggctcttgtaGtgctgtttccaggggaagcc	7	13	11	10	0	1	0	0	0	1	0	3	1	3	1	3	3	2	4	3	3	3	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:133540699G>T	ENST00000409261.1	-	14	4058	c.3685C>A	c.(3685-3687)Cta>Ata	p.L1229I	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L1229I|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1229										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGCTCTTGTAGTGCTGTTTCC	0.507																																																	0													117	113	114					2																	133540699		1937	4158	6095	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3685C>A	2.37:g.133540699G>T	ENSP00000387128:p.Leu1229Ile		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.L1229I	ENST00000409261.1	37	c.3685	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098264	0.37048	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10860	2.83;2.83	5.5	2.51	0.30379	.	4.412020	0.01228	U	0.008265	T	0.08537	0.0212	N	0.14661	0.345	0.09310	N	1	B	0.22003	0.063	B	0.21917	0.037	T	0.31613	-0.9937	10	0.36615	T	0.2	.	6.9309	0.24442	0.0921:0.0:0.5038:0.4041	.	1229	O14513	NCKP5_HUMAN	I	1229	ENSP00000387128:L1229I;ENSP00000380603:L1229I	ENSP00000380603:L1229I	L	-	1	2	NCKAP5	133257169	0.000000	0.05858	0.000000	0.03702	0.244000	0.25665	0.036000	0.13819	0.317000	0.23160	0.655000	0.94253	CTA	NCKAP5	-	NULL	ENSG00000176771		0.507	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	47	0	G	NM_207481		133540699	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.000	T	T	133540699	G	T	133540699	3	4	143	1	0	0	0	0	1	0	0	0	10262	1020	36	3	2072	3	NCKAP5	2	133540699	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	5302038	133540699	109658674	25	36201											
ARHGAP15	55843	genome.wustl.edu	37	chr2	144381722	144381722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagaagctgaatttggacGacagccagtgggaggacatc	14	6	14	7	1	0	2	0	1	0	1	1	7	0	5	1	3	2	1	1	3	3	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:144381722G>A	ENST00000295095.6	+	12	1191	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	342	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)		GAATTTGGACGACAGCCAGTG	0.443																																																	0													89	85	87					2																	144381722		2203	4300	6503	SO:0001583	missense	0			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.1024G>A	2.37:g.144381722G>A	ENSP00000295095:p.Asp342Asn		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.D342N	ENST00000295095.6	37	c.1024	CCDS2184.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.110598	0.97291	.	.	ENSG00000075884	ENST00000295095	T	0.20069	2.1	6.16	6.16	0.99307	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.051970	0.85682	D	0.000000	T	0.39860	0.1094	M	0.74258	2.255	0.58432	D	0.999999	D	0.57899	0.981	P	0.49301	0.606	T	0.19224	-1.0312	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	342	Q53QZ3	RHG15_HUMAN	N	342	ENSP00000295095:D342N	ENSP00000295095:D342N	D	+	1	0	ARHGAP15	144098192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GAC	ARHGAP15	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000075884		0.443	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP15	HGNC	protein_coding	OTTHUMT00000254793.2	-	0	68	0	G	NM_018460		144381722	1	tier1	-	no_errors	ENST00000295095	ensembl	human	known	74_37	missense	25.40	47	16	SNP	1.000	A	A	144381722	G	A	144381722	3	1	143	1	0	0	0	0	1	0	0	0	866	1058	37	1	1066	1	ARHGAP15	2	144381722	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	10841023	144381722	98817651	26	36202											
RBMS1	5937	genome.wustl.edu	37	chr2	161349870	161349870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgctgtttccacactttgCccatgaagctggaagggagc	8	11	11	11	0	1	1	0	1	1	0	2	3	2	3	2	2	4	3	2	2	2	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:161349870C>T	ENST00000348849.3	-	1	435	c.5G>A	c.(4-6)gGc>gAc	p.G2D	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.G2D	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	2					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)								CCACACTTTGCCCATGAAGCT	0.622																																																	0													67	55	59					2																	161349870		2203	4300	6503	SO:0001583	missense	0			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.5G>A	2.37:g.161349870C>T	ENSP00000294904:p.Gly2Asp		Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.G2D	ENST00000348849.3	37	c.5	CCDS2213.1	2	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852190	0.71719	.	.	ENSG00000153250	ENST00000348849;ENST00000392753	T;T	0.27890	1.64;1.73	3.95	3.95	0.45737	.	0.000000	0.51477	D	0.000086	T	0.47948	0.1473	L	0.44542	1.39	0.36726	D	0.881428	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.959;0.982;0.992	T	0.60424	-0.7266	10	0.87932	D	0	.	16.3265	0.82983	0.0:1.0:0.0:0.0	.	2;2;2	P29558;P29558-2;B4DN88	RBMS1_HUMAN;.;.	D	2	ENSP00000294904:G2D;ENSP00000376508:G2D	ENSP00000294904:G2D	G	-	2	0	RBMS1	161058116	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.926000	0.56491	1.913000	0.55393	0.305000	0.20034	GGC	RBMS1	-	NULL	ENSG00000153250		0.622	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	HGNC	protein_coding	OTTHUMT00000255043.4	-	0	108	0	C	NM_016836		161349870	-1	tier1	-	no_errors	ENST00000392753	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	161349870	C	T	161349870	3	4	143	1	0	0	0	0	1	0	0	0	13193	739	26	3	1267	3	RBMS1	2	161349870	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	16968148	161349870	81849503	27	36203											
SCN7A	6332	genome.wustl.edu	37	chr2	167322481	167322481	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcagtggatcaggaccccTacaagggatttcagacctgg	12	7	12	10	0	2	1	2	0	0	1	2	4	2	4	3	4	2	1	3	4	3	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:167322481T>G	ENST00000409855.1	-	7	807	c.681A>C	c.(679-681)gtA>gtC	p.V227V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	227					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCAGGACCCCTACAAGGGATT	0.403																																																	0													36	33	34					2																	167322481		1814	4078	5892	SO:0001819	synonymous_variant	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.681A>C	2.37:g.167322481T>G				Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.V227	ENST00000409855.1	37	c.681	CCDS46442.1	2																																																																																			SCN7A	-	pfam_Ion_trans_dom	ENSG00000136546		0.403	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0	25	0	T			167322481	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	silent	23.33	23	7	SNP	0.492	G	G	167322481	T	G	167322481	2	3	143	1	0	0	0	0	0	0	0	1	13968	1509	53	4		4	SCN7A	2	167322481	Silent	SNP	T	TCGA-R6-A6L6-01B-11D-A33E-09	5972611	167322481	75876892	28	36204											
XIRP2	129446	genome.wustl.edu	37	chr2	168067378	168067378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taccaggcagctgtttccagGggtgactgccgcagcttctc	6	10	12	13	1	1	1	0	1	1	0	3	1	2	1	3	3	4	5	3	3	1	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:168067378G>T	ENST00000409728.1	+	5	884	c.795G>T	c.(793-795)agG>agT	p.R265S	XIRP2_ENST00000409756.2_Missense_Mutation_p.R232S|XIRP2_ENST00000409195.1_Missense_Mutation_p.R232S|XIRP2_ENST00000420519.1_Missense_Mutation_p.R265S|XIRP2_ENST00000409043.1_Missense_Mutation_p.R232S|XIRP2_ENST00000295237.9_Missense_Mutation_p.R232S|XIRP2_ENST00000409273.1_Missense_Mutation_p.R10S|XIRP2_ENST00000409605.1_Missense_Mutation_p.R10S	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	57					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						CTGTTTCCAGGGGTGACTGCC	0.532																																																	0													79	84	82					2																	168067378		2042	4196	6238	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.795G>T	2.37:g.168067378G>T	ENSP00000386619:p.Arg265Ser		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.R232S	ENST00000409728.1	37	c.696	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976146	0.74360	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.79247	-1.25;-1.23;4.05;-1.25;-1.23;4.05;4.12;-1.18	5.93	2.75	0.32379	.	0.335587	0.34067	N	0.004288	T	0.81903	0.4921	L	0.61218	1.895	0.28861	N	0.895506	B;D;D;B;B	0.67145	0.165;0.996;0.996;0.211;0.25	B;D;D;B;B	0.66497	0.067;0.944;0.944;0.106;0.092	T	0.74031	-0.3795	10	0.66056	D	0.02	-8.2396	5.8722	0.18809	0.2582:0.145:0.5968:0.0	.	57;232;265;57;10	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	S	232;265;232;232;265;232;10;10	ENSP00000386454:R232S;ENSP00000386619:R265S;ENSP00000386840:R232S;ENSP00000386724:R232S;ENSP00000415541:R265S;ENSP00000295237:R232S;ENSP00000387255:R10S;ENSP00000386981:R10S	ENSP00000295237:R232S	R	+	3	2	XIRP2	167775624	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.740000	0.26188	0.847000	0.35167	0.655000	0.94253	AGG	XIRP2	-	NULL	ENSG00000163092		0.532	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	-	0	51	0	G	NM_152381		168067378	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.993	T	T	168067378	G	T	168067378	3	4	143	1	0	0	0	0	1	0	0	0	17479	1223	43	3	706	3	XIRP2	2	168067378	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	744897	168067378	75131995	29	36205											
STRADB	55437	genome.wustl.edu	37	chr2	202344861	202344861	+	Missense_Mutation	SNP	A	A	G	1	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	ttggactgagccagaatgtgAttttcctgatgaaaaagact	13	12	10	6	0	0	6	0	4	0	2	1	7	1	7	2	1	1	0	2	1	3	3	rs139900078		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:202344861A>G	ENST00000194530.3	+	12	1585	c.1220A>G	c.(1219-1221)gAt>gGt	p.D407G	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	407					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)	p.D407G(1)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CCAGAATGTGATTTTCCTGAT	0.403																																																	1	Substitution - Missense(1)	skin(1)											140	138	139					2																	202344861		2203	4300	6503	SO:0001583	missense	0			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.1220A>G	2.37:g.202344861A>G	ENSP00000194530:p.Asp407Gly		Q5BKY7|Q9P1L0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D407G	ENST00000194530.3	37	c.1220	CCDS2348.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.737|4.737	0.137134|0.137134	0.09032|0.09032	.|.	.|.	ENSG00000082146|ENSG00000082146	ENST00000194530;ENST00000539670;ENST00000392866|ENST00000415688	T|.	0.61510|.	0.1|.	5.55|5.55	-1.4|-1.4	0.08968|0.08968	.|.	1.281530|.	0.04747|.	N|.	0.423931|.	T|.	0.17959|.	0.0431|.	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|.	0.24512|.	-1.0158|.	10|.	0.21014|.	T|.	0.42|.	.|.	1.8647|1.8647	0.03195|0.03195	0.3817:0.2818:0.075:0.2616|0.3817:0.2818:0.075:0.2616	.|.	407|.	Q9C0K7|.	STRAB_HUMAN|.	G|W	407;407;269|77	ENSP00000194530:D407G|.	ENSP00000194530:D407G|.	D|X	+|+	2|3	0|0	STRADB|STRADB	202053106|202053106	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.245000|0.245000	0.25701|0.25701	-0.132000|-0.132000	0.10467|0.10467	0.023000|0.023000	0.15187|0.15187	0.533000|0.533000	0.62120|0.62120	GAT|TGA	STRADB	-	NULL	ENSG00000082146		0.403	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	HGNC	protein_coding	OTTHUMT00000256297.1	-	0	59	0	A	NM_018571		202344861	1	tier1	rs139900078	no_errors	ENST00000194530	ensembl	human	known	74_37	missense	7.59	73	6	SNP	0.000	G	G	202344861	A	G	202344861	3	3	143	1	0	0	0	0	1	0	0	0	15372	333	12	4	1262	4	STRADB	2	202344861	Missense_Mutation	SNP	A	TCGA-R6-A6L6-01B-11D-A33E-09	34277483	202344861	40854512	30	36206											
STRADB	55437	genome.wustl.edu	37	chr2	202344886	202344886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgatgaaaaagactcataCtgggaattctagggctgcca	13	9	10	9	0	2	3	1	2	1	1	2	4	2	4	2	2	2	1	2	2	5	3	rs146098224		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	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	0			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1245C>T	2.37:g.202344886C>T			Q5BKY7|Q9P1L0	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y415	ENST00000194530.3	37	c.1245	CCDS2348.1	2																																																																																			STRADB	-	NULL	ENSG00000082146		0.393	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	HGNC	protein_coding	OTTHUMT00000256297.1	-	0	60	0	C	NM_018571		202344886	1	tier1	rs146098224	no_errors	ENST00000194530	ensembl	human	known	74_37	silent	12.05	73	10	SNP	0.437	T	T	202344886	C	T	202344886	2	4	143	1	0	0	0	0	0	0	0	1	15372	576	20	3		3	STRADB	2	202344886	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	25	202344886	40854487	31	36207											
ACADL	33	genome.wustl.edu	37	chr2	211082784	211082785	+	Frame_Shift_Ins	INS	-	-	C																															gcagtccttgttttccagctINSttttcccaaacctccctact																										TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:211082784_211082785insC	ENST00000233710.3	-	3	502_503	c.275_276insG	c.(274-276)aaafs	p.K92fs	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	92					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)		GTTTTCCAGCTTTTTCCCAAAC	0.396																																																	0																																										SO:0001589	frameshift_variant	0			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.275_276insG	2.37:g.211082784_211082785insC	ENSP00000233710:p.Lys92fs		B2R8T3|Q8IUN8	Frame_Shift_Ins	INS	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.A93fs	ENST00000233710.3	37	c.276_275	CCDS2389.1	2																																																																																			ACADL	-	pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000115361		0.396	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADL	HGNC	protein_coding	OTTHUMT00000256561.2		0	52	0	-	NM_001608		211082785	-1	tier1		no_errors	ENST00000233710	ensembl	human	known	74_37	frame_shift_ins	16.67	50	10	INS	1.000:1.000	C	C	211082785	-	C	211082784	7	5	143	1	0	1	1	0	0	0	0	0	112	1606	56	0	1052	0	ACADL	2	211082784	Frame_Shift_Ins	INS	-	TCGA-R6-A6L6-01B-11D-A33E-09	8737898	211082784	32116589	32	36208	132	2									
ACADL	33	genome.wustl.edu	37	chr2	211082785	211082785	+	Missense_Mutation	SNP	T	T	C																															gcagtccttgttttccagctTtttcccaaacctccctactt																										TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:211082785T>C	ENST00000233710.3	-	3	502	c.275A>G	c.(274-276)aAa>aGa	p.K92R	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	92					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)		TTTTCCAGCTTTTTCCCAAAC	0.393																																																	0													138	118	125					2																	211082785		2203	4300	6503	SO:0001583	missense	0			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.275A>G	2.37:g.211082785T>C	ENSP00000233710:p.Lys92Arg		B2R8T3|Q8IUN8	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.K92R	ENST00000233710.3	37	c.275	CCDS2389.1	2	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843023	0.71488	.	.	ENSG00000115361	ENST00000233710	D	0.99751	-6.63	5.41	5.41	0.78517	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99214	0.9727	M	0.62088	1.915	0.58432	D	0.999997	P	0.40909	0.732	B	0.40038	0.317	D	0.99835	1.1057	10	0.56958	D	0.05	.	15.4411	0.75184	0.0:0.0:0.0:1.0	.	92	P28330	ACADL_HUMAN	R	92	ENSP00000233710:K92R	ENSP00000233710:K92R	K	-	2	0	ACADL	210791030	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.396000	0.66297	2.060000	0.61445	0.455000	0.32223	AAA	ACADL	-	pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000115361		0.393	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADL	HGNC	protein_coding	OTTHUMT00000256561.2		0	51	0	T	NM_001608		211082785	-1			no_errors	ENST00000233710	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	C	C	211082785	T	C	211082785	3	2	143	1	0	0	0	0	1	0	0	0	112	1841	64	4	1053	4	ACADL	2	211082785	Missense_Mutation	SNP	T	TCGA-R6-A6L6-01B-11D-A33E-09	1	211082785	32116588	33	36209	132	2									
NCL	4691	genome.wustl.edu	37	chr2	232321441	232321441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatttaaagcttctttagCgtcttcgaatgaagcaaact	13	13	8	7	2	2	1	0	1	2	0	3	3	2	2	0	1	4	2	0	1	7	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:232321441C>T	ENST00000322723.4	-	11	1846	c.1606G>A	c.(1606-1608)Gct>Act	p.A536T	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	536	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.A536T(1)		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)		GCTTCTTTAGCGTCTTCGAAT	0.443																																																	1	Substitution - Missense(1)	central_nervous_system(1)											104	102	103					2																	232321441		2203	4300	6503	SO:0001583	missense	0				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.1606G>A	2.37:g.232321441C>T	ENSP00000318195:p.Ala536Thr		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.A536T	ENST00000322723.4	37	c.1606	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842648	0.91197	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	D;T	0.84442	-1.85;1.52	5.6	5.6	0.85130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.145267	0.64402	D	0.000008	D	0.93887	0.8044	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94689	0.7872	10	0.87932	D	0	-25.1157	18.6624	0.91475	0.0:1.0:0.0:0.0	.	536	P19338	NUCL_HUMAN	T	536;428;308;161	ENSP00000318195:A536T;ENSP00000349410:A161T	ENSP00000318195:A536T	A	-	1	0	NCL	232029685	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.197000	0.65141	2.651000	0.90000	0.551000	0.68910	GCT	NCL	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000115053		0.443	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1		0	42	0	C	NM_005381		232321441	-1			no_errors	ENST00000322723	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	232321441	C	T	232321441	3	4	143	1	0	0	0	0	1	0	0	0	10265	768	27	1	542	1	NCL	2	232321441	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	21238656	232321441	10877932	34	36210											
UGT1A4	54657	genome.wustl.edu	37	chr2	234628062	234628062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatattcctaagttactaaCgaccaattcagaccacatga	15	11	4	11	1	1	2	1	1	0	1	2	3	2	2	3	0	2	1	3	0	6	7	rs538242607		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:234628062C>T	ENST00000373409.3	+	1	639	c.596C>T	c.(595-597)aCg>aTg	p.T199M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	199					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)	AAGTTACTAACGACCAATTCA	0.443													C|||	1	0.000199681	8e-04	0	5008	,	,		23183	0		0	False		,,,				2504	0				Melanoma(99;1011 1962 13201 26492)												0													165	158	160					2																	234628062		2203	4297	6500	SO:0001583	missense	0			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.596C>T	2.37:g.234628062C>T	ENSP00000362508:p.Thr199Met		B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T199M	ENST00000373409.3	37	c.596	CCDS33405.1	2	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601251	0.46423	.	.	ENSG00000244474	ENST00000373409	T	0.60672	0.17	4.35	4.35	0.52113	.	.	.	.	.	T	0.80502	0.4635	M	0.88570	2.965	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74057	-0.3787	9	0.87932	D	0	.	16.8588	0.86012	0.0:1.0:0.0:0.0	.	199;199	B8K288;P22310	.;UD14_HUMAN	M	199	ENSP00000362508:T199M	ENSP00000362508:T199M	T	+	2	0	UGT1A4	234292801	0.147000	0.22687	0.003000	0.11579	0.014000	0.08584	3.964000	0.56780	1.942000	0.56320	0.491000	0.48974	ACG	UGT1A4	-	pfam_UDP_glucos_trans	ENSG00000244474		0.443	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A4	HGNC	protein_coding	OTTHUMT00000130984.1	-	0	118	0	C	NM_007120		234628062	1	tier1	-	no_errors	ENST00000373409	ensembl	human	known	74_37	missense	20.35	90	23	SNP	0.022	T	T	234628062	C	T	234628062	3	4	143	1	0	0	0	0	1	0	0	0	16996	536	19	1	598	1	UGT1A4	2	234628062	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	2306621	234628062	8571311	35	36211											
IQCA1	79781	genome.wustl.edu	37	chr2	237406090	237406090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttatcgagtaaagcacCgagggcttcttgggtctgat	8	13	11	9	2	3	1	0	1	3	0	4	3	3	1	1	2	1	3	1	2	3	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr2:237406090C>T	ENST00000409907.3	-	2	326	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	IQCA1_ENST00000309507.5_Missense_Mutation_p.G14S|IQCA1_ENST00000431676.2_Missense_Mutation_p.G18S	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	18							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGTAAAGCACCGAGGGCTTCT	0.373																																																	0													41	40	41					2																	237406090		1831	4081	5912	SO:0001583	missense	0			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.52G>A	2.37:g.237406090C>T	ENSP00000387347:p.Gly18Ser		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.G18S	ENST00000409907.3	37	c.52	CCDS46549.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.007|2.007	-0.427912|-0.427912	0.04701|0.04701	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437|ENST00000418802	D;D;D|.	0.93426|.	-3.08;-3.07;-3.22|.	5.52|5.52	0.0505|0.0505	0.14293|0.14293	.|.	0.858042|.	0.10385|.	N|.	0.681127|.	T|T	0.07999|0.07999	0.0200|0.0200	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.06786|.	0.0;0.001;0.001|.	B;B;B|.	0.06405|.	0.001;0.002;0.002|.	T|T	0.32824|0.32824	-0.9892|-0.9892	10|5	0.08179|.	T|.	0.78|.	.|.	2.7466|2.7466	0.05268|0.05268	0.1097:0.2102:0.1129:0.5671|0.1097:0.2102:0.1129:0.5671	.|.	18;25;18|.	E7EWQ0;E9PH78;Q86XH1|.	.;.;IQCA1_HUMAN|.	S|Q	18;25;14;18;14|36	ENSP00000387347:G18S;ENSP00000311951:G14S;ENSP00000407213:G18S|.	ENSP00000254653:G18S|.	G|R	-|-	1|2	0|0	IQCA1|IQCA1	237070829|237070829	0.002000|0.002000	0.14202|0.14202	0.110000|0.110000	0.21437|0.21437	0.547000|0.547000	0.35210|0.35210	0.208000|0.208000	0.17415|0.17415	-0.165000|-0.165000	0.10908|0.10908	-1.088000|-1.088000	0.02184|0.02184	GGT|CGG	IQCA1	-	NULL	ENSG00000132321		0.373	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	-	0	46	0	C	NM_024726		237406090	-1	tier1	-	no_errors	ENST00000409907	ensembl	human	known	74_37	missense	31.48	37	17	SNP	0.001	T	T	237406090	C	T	237406090	3	4	143	1	0	0	0	0	1	0	0	0	7829	652	23	1	2488	1	IQCA1	2	237406090	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	2778028	237406090	5793283	36	36212											
MTMR14	64419	genome.wustl.edu	37	chr3	9724868	9724868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttttctccaacagtgttggGatctggtgcaacaaacacaa	12	11	8	10	0	2	0	0	0	2	0	3	1	2	1	1	2	4	2	1	2	4	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr3:9724868G>T	ENST00000296003.4	+	10	1026	c.904G>T	c.(904-906)Gat>Tat	p.D302Y	MTMR14_ENST00000351233.5_Missense_Mutation_p.D302Y|MTMR14_ENST00000420925.1_Missense_Mutation_p.D56Y|MTMR14_ENST00000353332.5_Missense_Mutation_p.D302Y	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	302					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)					ACAGTGTTGGGATCTGGTGCA	0.418																																																	0													98	99	99					3																	9724868		1899	4123	6022	SO:0001583	missense	0			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.904G>T	3.37:g.9724868G>T	ENSP00000296003:p.Asp302Tyr		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	NULL	p.D302Y	ENST00000296003.4	37	c.904	CCDS43043.1	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581513	0.86748	.	.	ENSG00000163719	ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233;ENST00000419048;ENST00000431250	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	M	0.83223	2.63	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;0.998	D	0.95721	0.8766	10	0.87932	D	0	-0.2104	20.4084	0.99013	0.0:0.0:1.0:0.0	.	56;302;302;302	C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;.;MTMRE_HUMAN	Y	302;56;302;302;302;74	ENSP00000323462:D302Y;ENSP00000401993:D56Y;ENSP00000296003:D302Y;ENSP00000334070:D302Y;ENSP00000388746:D74Y	ENSP00000296003:D302Y	D	+	1	0	MTMR14	9699868	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.564000	0.90726	2.833000	0.97629	0.650000	0.86243	GAT	MTMR14	-	NULL	ENSG00000163719		0.418	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR14	HGNC	protein_coding	OTTHUMT00000338435.1		0	61	0	G	NM_022485		9724868	1			no_errors	ENST00000296003	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	9724868	G	T	9724868	3	4	143	1	0	0	0	0	1	0	0	0	9980	1174	41	3	942	3	MTMR14	3	9724868	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09		9724868	188297562	37	36213											
FGD5	152273	genome.wustl.edu	37	chr3	14860755	14860755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccaaagtgctctgagtcGgagaccgacgaggattacat	12	8	11	10	3	1	2	0	1	1	1	3	6	2	3	2	2	2	1	2	2	2	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr3:14860755G>A	ENST00000285046.5	+	1	287	c.177G>A	c.(175-177)tcG>tcA	p.S59S	FGD5_ENST00000543601.1_5'Flank	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	59	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						GCTCTGAGTCGGAGACCGACG	0.607																																																	0													41	43	42					3																	14860755		692	1591	2283	SO:0001819	synonymous_variant	0			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.177G>A	3.37:g.14860755G>A			B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.S59	ENST00000285046.5	37	c.177	CCDS46767.1	3																																																																																			FGD5	-	NULL	ENSG00000154783		0.607	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	-	0	17	0	G	NM_152536		14860755	1	tier1	-	no_errors	ENST00000285046	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.000	A	A	14860755	G	A	14860755	2	1	143	1	0	0	0	0	0	0	0	1	5858	1103	39	1		1	FGD5	3	14860755	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	5135887	14860755	183161675	38	36214											
TOP2B	7155	genome.wustl.edu	37	chr3	25651146	25651146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctcctgcaccttctactgGtgctccactgaattcttcat	6	16	5	14	0	4	1	1	1	3	0	6	1	5	1	3	1	3	2	3	1	2	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr3:25651146G>T	ENST00000264331.4	-	29	3843	c.3844C>A	c.(3844-3846)Cca>Aca	p.P1282T	TOP2B_ENST00000435706.2_Missense_Mutation_p.P1277T|TOP2B_ENST00000540199.1_Missense_Mutation_p.P134T|TOP2B_ENST00000475717.1_5'Flank|TOP2B_ENST00000542520.1_Missense_Mutation_p.P134T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1282					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)	CCTTCTACTGGTGCTCCACTG	0.393																																																	0													65	56	58					3																	25651146		1858	4092	5950	SO:0001583	missense	0			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.3844C>A	3.37:g.25651146G>T	ENSP00000264331:p.Pro1282Thr		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.P1282T	ENST00000264331.4	37	c.3844		3	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617899	0.28801	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.43688	0.94;1.02;1.02;0.94	5.72	4.84	0.62591	.	0.489185	0.23398	N	0.048614	T	0.43853	0.1266	L	0.57536	1.79	0.37131	D	0.901253	B;B	0.29037	0.031;0.231	B;B	0.32980	0.034;0.156	T	0.46005	-0.9222	10	0.27785	T	0.31	-3.3822	16.391	0.83537	0.0:0.1321:0.8679:0.0	.	1282;1277	Q02880;Q02880-2	TOP2B_HUMAN;.	T	134;1277;1282;134	ENSP00000446023:P134T;ENSP00000396704:P1277T;ENSP00000264331:P1282T;ENSP00000437352:P134T	ENSP00000264331:P1282T	P	-	1	0	TOP2B	25626150	1.000000	0.71417	0.924000	0.36721	0.444000	0.32077	3.890000	0.56220	1.406000	0.46857	0.585000	0.79938	CCA	TOP2B	-	NULL	ENSG00000077097		0.393	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding			0	34	0	G			25651146	-1			no_errors	ENST00000264331	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.984	T	T	25651146	G	T	25651146	3	4	143	1	0	0	0	0	1	0	0	0	16414	1261	44	3	1068	3	TOP2B	3	25651146	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	10790391	25651146	172371284	39	36215											
OXSM	54995	genome.wustl.edu	37	chr3	25833286	25833286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctgagcacaaactcaGatcccaagttggcatgtcga	11	8	11	11	1	2	2	1	1	1	1	4	3	3	2	1	2	2	4	1	2	2	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr3:25833286G>T	ENST00000280701.3	+	2	874	c.775G>T	c.(775-777)Gat>Tat	p.D259Y	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Intron|OXSM_ENST00000449808.1_3'UTR	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	259					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)	p.D259H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CACAAACTCAGATCCCAAGTT	0.483																																																	1	Substitution - Missense(1)	lung(1)											76	78	77					3																	25833286		2203	4300	6503	SO:0001583	missense	0			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.775G>T	3.37:g.25833286G>T	ENSP00000280701:p.Asp259Tyr			Missense_Mutation	SNP	pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2	p.D259Y	ENST00000280701.3	37	c.775	CCDS2643.1	3	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749565	0.49257	.	.	ENSG00000151093	ENST00000280701	.	.	.	6.16	6.16	0.99307	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (2);	0.335103	0.37304	N	0.002152	T	0.63803	0.2542	M	0.83118	2.625	0.80722	D	1	P	0.42203	0.773	P	0.44921	0.464	T	0.69569	-0.5110	9	0.87932	D	0	-34.1207	8.1268	0.31003	0.1802:0.0:0.8198:0.0	.	259	Q9NWU1	OXSM_HUMAN	Y	259	.	ENSP00000280701:D259Y	D	+	1	0	OXSM	25808290	0.997000	0.39634	0.976000	0.42696	0.986000	0.74619	2.942000	0.49018	2.937000	0.99478	0.650000	0.86243	GAT	OXSM	-	pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2	ENSG00000151093		0.483	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXSM	HGNC	protein_coding	OTTHUMT00000252876.2		0	38	0	G	NM_017897		25833286	1			no_errors	ENST00000280701	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.922	T	T	25833286	G	T	25833286	3	4	143	1	0	0	0	0	1	0	0	0	11374	942	33	3	777	3	OXSM	3	25833286	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	182140	25833286	172189144	40	36216											
STT3B	201595	genome.wustl.edu	37	chr3	31667586	31667586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatttctctggatggttagGatagctgaaggagaacatcc	13	11	11	6	0	1	2	0	1	1	1	3	5	2	4	1	4	2	2	1	4	5	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr3:31667586G>T	ENST00000295770.2	+	13	2249	c.2040G>T	c.(2038-2040)agG>agT	p.R680S		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	680					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						GGATGGTTAGGATAGCTGAAG	0.378																																																	0													146	138	141					3																	31667586		2203	4300	6503	SO:0001583	missense	0			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.2040G>T	3.37:g.31667586G>T	ENSP00000295770:p.Arg680Ser		Q96JZ4|Q96KY7	Missense_Mutation	SNP	pfam_Oligo_trans_STT3	p.R680S	ENST00000295770.2	37	c.2040	CCDS2650.1	3	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498969	0.64298	.	.	ENSG00000163527	ENST00000295770	D	0.93247	-3.19	5.36	1.64	0.23874	.	0.000000	0.85682	D	0.000000	D	0.97142	0.9066	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95849	0.8873	10	0.59425	D	0.04	-15.0218	8.9451	0.35753	0.4116:0.0:0.5884:0.0	.	680	Q8TCJ2	STT3B_HUMAN	S	680	ENSP00000295770:R680S	ENSP00000295770:R680S	R	+	3	2	STT3B	31642590	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	0.800000	0.27042	0.566000	0.29273	0.313000	0.20887	AGG	STT3B	-	pfam_Oligo_trans_STT3	ENSG00000163527		0.378	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2	-	0	34	0	G	NM_178862		31667586	1	tier1	-	no_errors	ENST00000295770	ensembl	human	known	74_37	missense	13.85	56	9	SNP	0.999	T	T	31667586	G	T	31667586	3	4	143	1	0	0	0	0	1	0	0	0	15381	1165	41	3	2090	3	STT3B	3	31667586	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	5834300	31667586	166354844	41	36217											
GOLGB1	2804	genome.wustl.edu	37	chr3	121448073	121448073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgactgaggttctgtaggcaGaacagtccctccttgtgctt	7	13	11	10	0	1	3	0	2	1	1	3	3	3	3	2	2	2	4	2	2	2	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr3:121448073G>C	ENST00000340645.5	-	4	489	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	GOLGB1_ENST00000472829.1_5'UTR|GOLGB1_ENST00000393667.3_Missense_Mutation_p.L122V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	122					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)		TCTGTAGGCAGAACAGTCCCT	0.373																																																	0													149	137	141					3																	121448073		2203	4300	6503	SO:0001583	missense	0			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.364C>G	3.37:g.121448073G>C	ENSP00000341848:p.Leu122Val		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.L122V	ENST00000340645.5	37	c.364	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.27|10.27	1.303293|1.303293	0.23736|0.23736	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000489400|ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	.|T;T;T	.|0.26067	.|2.44;2.44;1.76	5.48|5.48	0.335|0.335	0.15953|0.15953	.|.	.|1.215190	.|0.06176	.|N	.|0.678550	T|T	0.17365|0.17365	0.0417|0.0417	L|L	0.28740|0.28740	0.885|0.885	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.12630	.|0.006;0.006;0.006;0.006;0.006	.|B;B;B;B;B	.|0.13407	.|0.009;0.009;0.009;0.009;0.009	T|T	0.30765|0.30765	-0.9967|-0.9967	5|10	.|0.30078	.|T	.|0.28	.|.	4.7928|4.7928	0.13257|0.13257	0.3324:0.0:0.5248:0.1428|0.3324:0.0:0.5248:0.1428	.|.	.|83;122;122;122;122	.|F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.|.;.;.;.;GOGB1_HUMAN	L|V	67|122;122;122;9	.|ENSP00000341848:L122V;ENSP00000377275:L122V;ENSP00000418231:L122V	.|ENSP00000341848:L122V	F|L	-|-	3|1	2|2	GOLGB1|GOLGB1	122930763|122930763	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.494000|0.494000	0.33585|0.33585	-0.899000|-0.899000	0.04101|0.04101	0.059000|0.059000	0.16252|0.16252	0.591000|0.591000	0.81541|0.81541	TTC|CTG	GOLGB1	-	NULL	ENSG00000173230		0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0	40	0	G	NM_004487		121448073	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	12.86	61	9	SNP	0.000	C	C	121448073	G	C	121448073	3	2	143	1	0	0	0	0	1	0	0	0	6591	933	33	5	9491	5	GOLGB1	3	121448073	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	89780487	121448073	76574357	42	36218											
TTC14	151613	genome.wustl.edu	37	chr3	180320998	180320998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttttccgagatattgagCgtggtgatatagtgattgga	9	16	13	3	2	0	4	0	3	0	1	1	6	1	5	1	2	1	1	1	2	3	7			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr3:180320998C>T	ENST00000296015.4	+	3	505	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000382584.4_Missense_Mutation_p.R125C|TTC14_ENST00000412756.2_Missense_Mutation_p.R125C	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	125							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)			AGATATTGAGCGTGGTGATAT	0.373																																																	0													250	236	241					3																	180320998		2203	4300	6503	SO:0001583	missense	0			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.373C>T	3.37:g.180320998C>T	ENSP00000296015:p.Arg125Cys		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R125C	ENST00000296015.4	37	c.373	CCDS3237.1	3	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620844	0.87460	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584;ENST00000492617;ENST00000495660	T;T	0.50813	0.73;0.76	5.71	5.71	0.89125	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);	0.058333	0.64402	D	0.000001	T	0.69278	0.3093	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.976;0.949;0.988	T	0.70457	-0.4866	10	0.72032	D	0.01	-9.776	19.8449	0.96704	0.0:1.0:0.0:0.0	.	125;125;125	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	C	125;125;125;125;25;25	ENSP00000296015:R125C;ENSP00000372027:R125C	ENSP00000296015:R125C	R	+	1	0	TTC14	181803692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.435000	0.59941	2.680000	0.91292	0.655000	0.94253	CGT	TTC14	-	superfamily_NA-bd_OB-fold	ENSG00000163728		0.373	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC14	HGNC	protein_coding	OTTHUMT00000349786.1	-	0	46	0	C	NM_133462		180320998	1	tier1	-	no_errors	ENST00000296015	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	180320998	C	T	180320998	3	4	143	1	0	0	0	0	1	0	0	0	16730	768	27	1	383	1	TTC14	3	180320998	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	58872925	180320998	17701432	43	36219											
BOD1L	259282	genome.wustl.edu	37	chr4	13603449	13603449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ctcttatctctgttccagcaCttgtaactgctccatcactt	7	16	4	14	0	3	0	1	0	2	0	6	0	5	0	2	0	3	4	2	0	2	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr4:13603449C>T	ENST00000040738.5	-	10	5210	c.5075G>A	c.(5074-5076)aGt>aAt	p.S1692N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1692						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGTTCCAGCACTTGTAACTGC	0.398																																																	0													204	225	218					4																	13603449		2203	4300	6503	SO:0001583	missense	0			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.5075G>A	4.37:g.13603449C>T	ENSP00000040738:p.Ser1692Asn		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.S1692N	ENST00000040738.5	37	c.5075	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193789	0.78902	.	.	ENSG00000038219	ENST00000040738	T	0.17528	2.27	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000004	T	0.33411	0.0862	L	0.36672	1.1	0.41121	D	0.985814	D	0.71674	0.998	D	0.78314	0.991	T	0.05451	-1.0884	10	0.48119	T	0.1	-7.5439	18.1927	0.89812	0.0:1.0:0.0:0.0	.	1692	Q8NFC6	BOD1L_HUMAN	N	1692	ENSP00000040738:S1692N	ENSP00000040738:S1692N	S	-	2	0	BOD1L	13212547	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.072000	0.64389	2.359000	0.80004	0.555000	0.69702	AGT	BOD1L1	-	NULL	ENSG00000038219		0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	19	0	C	NM_148894		13603449	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	T	T	13603449	C	T	13603449	3	4	143	1	0	0	0	0	1	0	0	0	1485	565	20	3	4148	3	BOD1L	4	13603449	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09		13603449	177550827	44	36220											
EPHA5	2044	genome.wustl.edu	37	chr4	66467595	66467595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatagtatacacgcacaGaaaccagagcaatgcaagca	17	8	7	9	1	0	2	0	0	0	2	0	2	0	2	1	0	5	5	1	0	7	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr4:66467595G>T	ENST00000273854.3	-	3	1274	c.674C>A	c.(673-675)tCt>tAt	p.S225Y	EPHA5_ENST00000354839.4_Missense_Mutation_p.S225Y|EPHA5_ENST00000432638.2_Missense_Mutation_p.S225Y|EPHA5_ENST00000511294.1_Missense_Mutation_p.S225Y	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	225	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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						TACACGCACAGAAACCAGAGC	0.433										TSP Lung(17;0.13)																																							0													71	69	69					4																	66467595		2203	4300	6503	SO:0001583	missense	0			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.674C>A	4.37:g.66467595G>T	ENSP00000273854:p.Ser225Tyr		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S225Y	ENST00000273854.3	37	c.674	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418647	0.83559	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.83	5.83	0.93111	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000014	T	0.50786	0.1636	M	0.92412	3.305	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;0.996;0.999;0.999	T	0.60984	-0.7154	10	0.87932	D	0	.	20.1208	0.97960	0.0:0.0:1.0:0.0	.	225;225;225;225	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Y	225	ENSP00000273854:S225Y;ENSP00000389208:S225Y;ENSP00000346899:S225Y;ENSP00000427638:S225Y	ENSP00000273854:S225Y	S	-	2	0	EPHA5	66150190	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.758000	0.94735	0.655000	0.94253	TCT	EPHA5	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000145242		0.433	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2		0	25	0	G	NM_004439		66467595	-1			no_errors	ENST00000273854	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	66467595	G	T	66467595	3	4	143	1	0	0	0	0	1	0	0	0	5186	942	33	3	2503	3	EPHA5	4	66467595	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	52864146	66467595	124686681	45	36221											
C4orf26	152816	genome.wustl.edu	37	chr4	76489432	76489432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tgccccgaggagtccggtcaCaagggcccagcccatcacaa	10	4	11	16	2	2	0	2	0	0	0	3	2	3	1	5	3	2	0	5	3	2	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr4:76489432C>A	ENST00000311623.4	+	2	211	c.176C>A	c.(175-177)aCa>aAa	p.T59K	C4orf26_ENST00000435974.2_Missense_Mutation_p.Q74K	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	59						extracellular region (GO:0005576)				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGTCCGGTCACAAGGGCCCAG	0.527																																																	0													96	98	97					4																	76489432		2203	4300	6503	SO:0001583	missense	0			AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.176C>A	4.37:g.76489432C>A	ENSP00000311307:p.Thr59Lys		B4DTI3|E7ETQ0|Q8TEC3	Missense_Mutation	SNP	NULL	p.T59K	ENST00000311623.4	37	c.176	CCDS3569.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.61|10.61	1.399039|1.399039	0.25291|0.25291	.|.	.|.	ENSG00000174792|ENSG00000174792	ENST00000435974|ENST00000311623	T|T	0.44482|0.37752	0.92|1.18	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	.|0.000000	.|0.52532	.|D	.|0.000070	T|T	0.47507|0.47507	0.1449|0.1449	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P|D	0.38677|0.89917	0.642|1.0	B|D	0.35278|0.87578	0.199|0.998	T|T	0.35748|0.35748	-0.9776|-0.9776	8|10	.|0.87932	.|D	.|0	.|.	13.8181|13.8181	0.63303|0.63303	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	74|59	E7ETQ0|Q17RF5	.|CD026_HUMAN	K|K	74|59	ENSP00000406925:Q74K|ENSP00000311307:T59K	.|ENSP00000311307:T59K	Q|T	+|+	1|2	0|0	C4orf26|C4orf26	76708456|76708456	0.512000|0.512000	0.26186|0.26186	0.079000|0.079000	0.20413|0.20413	0.013000|0.013000	0.08279|0.08279	1.950000|1.950000	0.40323|0.40323	2.720000|2.720000	0.93068|0.93068	0.644000|0.644000	0.83932|0.83932	CAA|ACA	C4orf26	-	NULL	ENSG00000174792		0.527	C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf26	HGNC	protein_coding	OTTHUMT00000252410.1	-	0	57	0	C	NM_178497		76489432	1	tier1	-	no_errors	ENST00000311623	ensembl	human	known	74_37	missense	15.00	51	9	SNP	0.152	A	A	76489432	C	A	76489432	3	1	143	1	0	0	0	0	1	0	0	0	2264	478	17	3	182	3	C4orf26	4	76489432	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	10021837	76489432	114664844	46	36222											
NHEDC1	150159	genome.wustl.edu	37	chr4	103832695	103832695	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgttattaagtataccacCtgtaggggcacacaataaaa	15	9	9	8	1	0	0	0	0	0	0	0	0	0	0	2	3	1	4	2	3	8	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr4:103832695C>T	ENST00000296422.7	-	8	971		c.e8-1		SLC9B1_ENST00000394789.3_Splice_Site|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						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)										AGTATACCACCTGTAGGGGCA	0.358																																																	0													33	33	33					4																	103832695		2030	3868	5898	SO:0001630	splice_region_variant	0			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.830-1G>A	4.37:g.103832695C>T			A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Splice_Site	SNP	-	e7-1	ENST00000296422.7	37	c.830-1	CCDS34041.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.46|12.46	1.944972|1.944972	0.34283|0.34283	.|.	.|.	ENSG00000164037|ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000514340|ENST00000511253	.|T	.|0.57907	.|0.37	4.36|4.36	4.36|4.36	0.52297|0.52297	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64046	.|0.2563	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63431	.|-0.6639	.|5	.|.	.|.	.|.	.|.	16.1779|16.1779	0.81874|0.81874	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|S	-1|2	.|ENSP00000425544:G2S	.|.	.|G	-|-	.|1	.|0	SLC9B1|SLC9B1	104052144|104052144	1.000000|1.000000	0.71417|0.71417	0.730000|0.730000	0.30809|0.30809	0.133000|0.133000	0.20885|0.20885	3.602000|3.602000	0.54066|0.54066	2.403000|2.403000	0.81681|0.81681	0.585000|0.585000	0.79938|0.79938	.|GGT	SLC9B1	-	-	ENSG00000164037		0.358	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B1	HGNC	protein_coding	OTTHUMT00000363841.1	-	0	54	0	C	NM_139173	Intron	103832695	-1	tier1	-	no_errors	ENST00000296422	ensembl	human	known	74_37	splice_site	11.76	75	10	SNP	0.993	T	T	103832695	C	T	103832695	5	4	143	1	0	0	0	0	0	0	1	0	10439	695	24	3	838	3	NHEDC1	4	103832695	Splice_Site	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	27343263	103832695	87321581	47	36223											
TRIM2	23321	genome.wustl.edu	37	chr4	154236987	154236987	+	Frame_Shift_Del	DEL	T	T	-																															tgtaatttatcttacagataTtttccaatgatggccagttc																										TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr4:154236987delT	ENST00000437508.2	+	8	1738	c.1537delT	c.(1537-1539)tttfs	p.F513fs	TRIM2_ENST00000338700.5_Frame_Shift_Del_p.F540fs	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	513					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)		CTTACAGATATTTTCCAATGA	0.483																																																	0													81	91	88					4																	154236987		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1537delT	4.37:g.154236987delT	ENSP00000415812:p.Phe513fs		D3DP09|O60272|Q9BSI9|Q9UFZ1	Frame_Shift_Del	DEL	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.S541fs	ENST00000437508.2	37	c.1618	CCDS47147.1	4																																																																																			TRIM2	-	pfscan_NHL_repeat_subgr	ENSG00000109654		0.483	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1		0	26	0	T			154236987	1	tier1		no_errors	ENST00000338700	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	1.000	-	-	154236987	T	-	154236987	7	5	143	1	0	1	0	1	0	0	0	0	16542	1493	52	0	1648	0	TRIM2	4	154236987	Frame_Shift_Del	DEL	T	TCGA-R6-A6L6-01B-11D-A33E-09	50404292	154236987	36917289	48	36224											
VEGFC	7424	genome.wustl.edu	37	chr4	177632662	177632662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatactcactgtggtagtGttgctggcagggaacgtcta	8	13	12	8	1	3	0	2	0	1	0	3	1	3	1	0	3	3	4	0	3	4	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr4:177632662G>T	ENST00000280193.2	-	4	1110	c.695C>A	c.(694-696)aCa>aAa	p.T232K	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	232					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTGTGGTAGTGTTGCTGGCAG	0.343																																																	0													131	124	127					4																	177632662		1893	4104	5997	SO:0001583	missense	0			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.695C>A	4.37:g.177632662G>T	ENSP00000280193:p.Thr232Lys		B2R9Q8	Missense_Mutation	SNP	pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.T232K	ENST00000280193.2	37	c.695	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470920	0.43942	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.89	5.05	0.67936	.	0.296217	0.31051	N	0.008357	T	0.50240	0.1604	M	0.63428	1.95	0.41698	D	0.989389	B	0.32245	0.361	B	0.26864	0.074	T	0.50013	-0.8877	9	0.07990	T	0.79	-1.3281	15.2367	0.73436	0.0674:0.0:0.9326:0.0	.	232	P49767	VEGFC_HUMAN	K	232	.	ENSP00000280193:T232K	T	-	2	0	VEGFC	177869656	0.990000	0.36364	0.216000	0.23742	0.990000	0.78478	5.053000	0.64269	1.495000	0.48549	0.585000	0.79938	ACA	VEGFC	-	NULL	ENSG00000150630		0.343	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	-	0	49	0	G	NM_005429		177632662	-1	tier1	-	no_errors	ENST00000280193	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.874	T	T	177632662	G	T	177632662	3	4	143	1	0	0	0	0	1	0	0	0	17201	1377	48	3	583	3	VEGFC	4	177632662	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	23395675	177632662	13521614	49	36225											
PLEKHG4B	153478	genome.wustl.edu	37	chr5	140666	140666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggactcttcccaggagatctCggtcctgggaaagggcaccc	8	7	13	13	1	2	1	0	0	2	1	5	4	4	3	3	5	0	1	3	5	1	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:140666C>T	ENST00000283426.6	+	1	294	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	CTD-2231H16.1_ENST00000512035.1_lincRNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	82							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)		CAGGAGATCTCGGTCCTGGGA	0.672																																																	0													16	21	19					5																	140666		2169	4279	6448	SO:0001583	missense	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.244C>T	5.37:g.140666C>T	ENSP00000283426:p.Arg82Trp			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R82W	ENST00000283426.6	37	c.244	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	.	9.239	1.037873	0.19669	.	.	ENSG00000153404	ENST00000283426	T	0.25414	1.8	2.59	0.325	0.15903	.	.	.	.	.	T	0.18299	0.0439	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	P	0.47941	0.562	T	0.14062	-1.0486	9	0.48119	T	0.1	.	6.3254	0.21240	0.5227:0.4773:0.0:0.0	.	82	Q96PX9	PKH4B_HUMAN	W	82	ENSP00000283426:R82W	ENSP00000283426:R82W	R	+	1	2	PLEKHG4B	193666	0.000000	0.05858	0.066000	0.19879	0.110000	0.19582	-0.832000	0.04400	0.054000	0.16065	0.298000	0.19748	CGG	PLEKHG4B	-	NULL	ENSG00000153404		0.672	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	-	0	123	0	C	NM_052909		140666	1	tier1	-	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	8.14	79	7	SNP	0.189	T	T	140666	C	T	140666	3	4	143	1	0	0	0	0	1	0	0	0	12111	875	31	1	246	1	PLEKHG4B	5	140666	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09		140666	180774594	50	36226											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41018510	41018510	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctttcccactctttttgtGaaacaagccacatttggaga	10	14	6	11	0	2	2	0	1	2	1	3	3	3	2	2	1	2	0	2	1	2	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:41018510G>C	ENST00000399564.4	-	27	3146	c.2696C>G	c.(2695-2697)tCa>tGa	p.S899*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.S454*	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	899																	CTCTTTTTGTGAAACAAGCCA	0.353																																																	0													75	70	71					5																	41018510		1848	4092	5940	SO:0001587	stop_gained	0				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.2696C>G	5.37:g.41018510G>C	ENSP00000382476:p.Ser899*		Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S899*	ENST00000399564.4	37	c.2696	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	41	8.543436	0.98857	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	.	.	.	5.96	5.96	0.96718	.	0.000000	0.47852	D	0.000205	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9221	0.79583	0.0:0.0:1.0:0.0	.	.	.	.	X	454;604;899	.	ENSP00000296803:S604X	S	-	2	0	HEATR7B2	41054267	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.489000	0.60309	2.832000	0.97577	0.655000	0.94253	TCA	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.353	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0	41	0	G	NM_173489		41018510	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	nonsense	15.00	34	6	SNP	0.994	C	C	41018510	G	C	41018510	4	2	143	1	0	0	0	0	0	1	0	0	7062	1294	45	5	2125	5	HEATR7B2	5	41018510	Nonsense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	40877844	41018510	139896750	51	36227											
MAP1B	4131	genome.wustl.edu	37	chr5	71482533	71482533	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagctcattctccagtcCggctctttctccttccagaa	7	12	8	14	1	4	2	1	0	3	2	8	3	6	2	4	2	1	2	4	2	1	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:71482533C>A	ENST00000296755.7	+	4	760	c.462C>A	c.(460-462)tcC>tcA	p.S154S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	154					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)		TTCTCCAGTCCGGCTCTTTCT	0.493																																					Melanoma(17;367 822 11631 31730 47712)												0													105	106	106					5																	71482533		2203	4300	6503	SO:0001819	synonymous_variant	0			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.462C>A	5.37:g.71482533C>A			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.S154	ENST00000296755.7	37	c.462	CCDS4012.1	5																																																																																			MAP1B	-	NULL	ENSG00000131711		0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0	35	0	C	NM_005909		71482533	1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.175	A	A	71482533	C	A	71482533	2	1	143	1	0	0	0	0	0	0	0	1	9266	639	23	2		2	MAP1B	5	71482533	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	30464023	71482533	109432727	52	36228											
CMYA5	202333	genome.wustl.edu	37	chr5	79025904	79025904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccatttctctggaggcagCgtcaccaggtctggcagcat	7	11	11	12	1	3	0	1	0	2	0	5	1	4	1	2	4	2	3	2	4	0	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:79025904C>T	ENST00000446378.2	+	2	1347	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	439					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)		CTGGAGGCAGCGTCACCAGGT	0.493																																																	0													80	80	80					5																	79025904		2203	4300	6503	SO:0001583	missense	0			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.1316C>T	5.37:g.79025904C>T	ENSP00000394770:p.Ala439Val		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.A439V	ENST00000446378.2	37	c.1316	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	c	10.70	1.423250	0.25639	.	.	ENSG00000164309	ENST00000446378	T	0.36878	1.23	5.38	-10.8	0.00216	.	27.852700	0.00604	N	0.000392	T	0.16300	0.0392	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.13737	-1.0498	10	0.44086	T	0.13	.	2.8712	0.05617	0.2047:0.3295:0.0831:0.3827	.	439	Q8N3K9	CMYA5_HUMAN	V	439	ENSP00000394770:A439V	ENSP00000394770:A439V	A	+	2	0	CMYA5	79061660	0.025000	0.19082	0.000000	0.03702	0.013000	0.08279	0.100000	0.15231	-2.874000	0.00322	-2.648000	0.00150	GCG	CMYA5	-	NULL	ENSG00000164309		0.493	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	60	0	C	NM_153610		79025904	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.000	T	T	79025904	C	T	79025904	3	4	143	1	0	0	0	0	1	0	0	0	3597	768	27	1	1322	1	CMYA5	5	79025904	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	7543371	79025904	101889356	53	36229											
ERAP2	64167	genome.wustl.edu	37	chr5	96215729	96215729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatcttgcacagcaaaGatcttgaaatcacgaatgcc	14	11	6	10	1	4	2	2	1	2	1	4	3	4	2	1	0	3	2	1	0	4	3	rs149963216	byFrequency	TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:96215729G>T	ENST00000437043.3	+	2	1051	c.340G>T	c.(340-342)Gat>Tat	p.D114Y	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.D114Y|ERAP2_ENST00000510309.1_Missense_Mutation_p.D114Y	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	114					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)		GCACAGCAAAGATCTTGAAAT	0.433													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		23565	0		0	False		,,,				2504	0																0								G	TYR/ASP,TYR/ASP	25,4381	31.7+/-61.6	0,25,2178	78	69	72		340,340	2.7	1	5	dbSNP_134	72	0,8600		0,0,4300	yes	missense,missense	ERAP2	NM_001130140.1,NM_022350.3	160,160	0,25,6478	TT,TG,GG		0.0,0.5674,0.1922	benign,benign	114/961,114/961	96215729	25,12981	2203	4300	6503	SO:0001583	missense	0			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.340G>T	5.37:g.96215729G>T	ENSP00000400376:p.Asp114Tyr		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.D114Y	ENST00000437043.3	37	c.340	CCDS4086.1	5	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	10.72	1.428326	0.25726	0.005674	0.0	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48	4.67	2.74	0.32292	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.444786	0.21932	N	0.067012	T	0.05364	0.0142	L	0.58302	1.8	0.33845	D	0.631906	B;B	0.20988	0.04;0.05	B;B	0.28305	0.078;0.088	T	0.03249	-1.1056	10	0.54805	T	0.06	.	6.6842	0.23136	0.0:0.2847:0.4549:0.2603	.	114;114	Q6P179-3;Q6P179	.;ERAP2_HUMAN	Y	114	ENSP00000400376:D114Y;ENSP00000421175:D114Y;ENSP00000421849:D114Y;ENSP00000369235:D114Y;ENSP00000425758:D114Y	ENSP00000369235:D114Y	D	+	1	0	ERAP2	96241485	0.007000	0.16637	0.953000	0.39169	0.975000	0.68041	0.112000	0.15479	2.315000	0.78130	0.563000	0.77884	GAT	ERAP2	-	pfam_Peptidase_M1_N	ENSG00000164308		0.433	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP2	HGNC	protein_coding	OTTHUMT00000250623.2		0	46	0	G	NM_022350		96215729	1			no_errors	ENST00000437043	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.981	T	T	96215729	G	T	96215729	3	4	143	1	0	0	0	0	1	0	0	0	5220	942	33	3	342	3	ERAP2	5	96215729	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	17189825	96215729	84699531	54	36230											
YTHDC2	64848	genome.wustl.edu	37	chr5	112889642	112889642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaatatcttgttgcagattCtttccaccaatattgctgaa	11	16	6	8	0	2	2	0	1	2	1	3	2	3	2	2	0	2	4	2	0	5	8	rs544302245		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:112889642C>G	ENST00000161863.4	+	16	2269	c.2056C>G	c.(2056-2058)Ctt>Gtt	p.L686V	YTHDC2_ENST00000515883.1_Missense_Mutation_p.L686V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	686	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		GTTGCAGATTCTTTCCACCAA	0.294													C|||	1	0.000199681	0	0	5008	,	,		15191	0		0	False		,,,				2504	0.001																0													125	118	121					5																	112889642		2202	4298	6500	SO:0001583	missense	0			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.2056C>G	5.37:g.112889642C>G	ENSP00000161863:p.Leu686Val		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L686V	ENST00000161863.4	37	c.2056	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128030	0.77549	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.66280	1.69;-0.2	5.51	5.51	0.81932	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	L	0.53249	1.67	0.54753	D	0.999987	P	0.50528	0.936	D	0.72625	0.978	T	0.77189	-0.2679	10	0.59425	D	0.04	.	19.3947	0.94603	0.0:1.0:0.0:0.0	.	686	Q9H6S0	YTDC2_HUMAN	V	686;686;596	ENSP00000161863:L686V;ENSP00000423101:L686V	ENSP00000161863:L686V	L	+	1	0	YTHDC2	112917541	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.641000	0.83368	2.572000	0.86782	0.650000	0.86243	CTT	YTHDC2	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000047188		0.294	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	-	0	19	0	C	NM_022828		112889642	1	tier1	-	no_errors	ENST00000161863	ensembl	human	known	74_37	missense	27.78	26	10	SNP	1.000	G	G	112889642	C	G	112889642	3	3	143	1	0	0	0	0	1	0	0	0	17546	913	32	5	2118	5	YTHDC2	5	112889642	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	16673913	112889642	68025618	55	36231											
CCDC112	153733	genome.wustl.edu	37	chr5	114615389	114615389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttattttccaattcttctaGcatactatgctcaattctga	10	19	3	9	0	4	1	1	1	3	0	5	1	5	1	1	0	3	2	1	0	6	10			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:114615389G>T	ENST00000512261.1	-	4	483	c.67C>A	c.(67-69)Cta>Ata	p.L23I	CCDC112_ENST00000395557.4_Missense_Mutation_p.L23I|CCDC112_ENST00000506442.1_Missense_Mutation_p.L23I|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000379611.5_Missense_Mutation_p.L106I			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	23										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)		AATTCTTCTAGCATACTATGC	0.299																																																	0													126	114	118					5																	114615389		2202	4298	6500	SO:0001583	missense	0			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.67C>A	5.37:g.114615389G>T	ENSP00000423712:p.Leu23Ile		Q6A334	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.L106I	ENST00000512261.1	37	c.316	CCDS4117.1	5	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854815	0.71719	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.28255	1.94;1.62;1.66;1.62	5.4	3.34	0.38264	.	0.074783	0.53938	D	0.000042	T	0.41534	0.1163	L	0.53249	1.67	0.31058	N	0.714402	D;D;D	0.61697	0.974;0.99;0.99	P;P;P	0.59424	0.747;0.857;0.857	T	0.33979	-0.9847	10	0.40728	T	0.16	-8.1249	10.0981	0.42488	0.0833:0.0:0.775:0.1417	.	23;106;23	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	I	106;23;23;23	ENSP00000368931:L106I;ENSP00000423712:L23I;ENSP00000424876:L23I;ENSP00000378925:L23I	ENSP00000368931:L106I	L	-	1	2	CCDC112	114643288	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	1.996000	0.40776	2.550000	0.86006	0.460000	0.39030	CTA	CCDC112	-	NULL	ENSG00000164221		0.299	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1		0	20	0	G	NM_152549		114615389	-1			no_errors	ENST00000379611	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.982	T	T	114615389	G	T	114615389	3	4	143	1	0	0	0	0	1	0	0	0	2756	962	34	3	1305	3	CCDC112	5	114615389	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	1725747	114615389	66299871	56	36232											
ADAMTS19	171019	genome.wustl.edu	37	chr5	129037259	129037259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccaggactgcatgaccGtgtgggaggcgggagtgtgg	7	6	21	7	2	0	1	0	1	0	0	0	4	0	4	2	6	1	1	2	6	0	0	rs377194418		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:129037259G>A	ENST00000274487.4	+	20	3260	c.3115G>A	c.(3115-3117)Gtg>Atg	p.V1039M	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1039	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V1039M(1)		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)		CTGCATGACCGTGTGGGAGGC	0.567																																																	1	Substitution - Missense(1)	kidney(1)						G	MET/VAL	0,4406		0,0,2203	73	68	69		3115	3.1	0.9	5		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS19	NM_133638.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1039/1208	129037259	1,13005	2203	4300	6503	SO:0001583	missense	0			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.3115G>A	5.37:g.129037259G>A	ENSP00000274487:p.Val1039Met			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V1039M	ENST00000274487.4	37	c.3115	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667644	0.67814	0.0	1.16E-4	ENSG00000145808	ENST00000274487	T	0.19394	2.15	4.0	3.11	0.35812	.	0.000000	0.53938	D	0.000043	T	0.29126	0.0724	L	0.43152	1.355	0.46222	D	0.998939	D	0.65815	0.995	P	0.54312	0.748	T	0.03175	-1.1064	9	.	.	.	.	14.5487	0.68050	0.0:0.148:0.852:0.0	.	1039	Q8TE59	ATS19_HUMAN	M	1039	ENSP00000274487:V1039M	.	V	+	1	0	ADAMTS19	129065158	1.000000	0.71417	0.854000	0.33618	0.996000	0.88848	4.525000	0.60559	1.243000	0.43853	0.650000	0.86243	GTG	ADAMTS19	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145808		0.567	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2		0	25	0	G	NM_133638		129037259	1			no_errors	ENST00000274487	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.986	A	A	129037259	G	A	129037259	3	1	143	1	0	0	0	0	1	0	0	0	264	1145	40	1	3193	1	ADAMTS19	5	129037259	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	14421870	129037259	51878001	57	36233											
CTNNA1	1495	genome.wustl.edu	37	chr5	138145894	138145894	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttgttcagctgaaagttGtaagtatacaggcctatgtc	11	14	9	7	0	1	1	1	1	0	0	2	1	1	1	1	1	3	5	1	1	6	8			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:138145894G>T	ENST00000302763.7	+	4	558		c.e4+1		CTNNA1_ENST00000355078.5_Splice_Site|CTNNA1_ENST00000518825.1_Splice_Site	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa						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)			GCTGAAAGTTGTAAGTATACA	0.423																																																	0													92	90	90					5																	138145894		2203	4300	6503	SO:0001630	splice_region_variant	0			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.468+1G>T	5.37:g.138145894G>T			Q12795|Q8N1C0	Splice_Site	SNP	-	e3+1	ENST00000302763.7	37	c.468+1	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774279	0.90108	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000518910;ENST00000537034;ENST00000541863;ENST00000518245;ENST00000520158;ENST00000518825	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9593	0.92671	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNNA1	138173793	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.645000	0.89757	0.655000	0.94253	.	CTNNA1	-	-	ENSG00000044115		0.423	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	-	0	47	0	G	NM_001903	Intron	138145894	1	tier1	-	no_errors	ENST00000302763	ensembl	human	known	74_37	splice_site	8.51	43	4	SNP	1.000	T	T	138145894	G	T	138145894	5	4	143	1	0	0	0	0	0	0	1	0	4021	1391	48	3	479	3	CTNNA1	5	138145894	Splice_Site	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	9108635	138145894	42769366	58	36234											
PURA	5813	genome.wustl.edu	37	chr5	139494597	139494597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcaagtactcggaggaGatgaagaagattcaagagaa	16	8	12	5	1	2	5	1	1	1	4	3	8	2	6	0	2	2	2	0	2	6	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:139494597G>T	ENST00000331327.3	+	1	890	c.831G>T	c.(829-831)gaG>gaT	p.E277D		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	277					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCGGAGGAGATGAAGAAGA	0.592																																																	0													62	60	61					5																	139494597		2203	4300	6503	SO:0001583	missense	0			BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.831G>T	5.37:g.139494597G>T	ENSP00000332706:p.Glu277Asp			Missense_Mutation	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.E277D	ENST00000331327.3	37	c.831	CCDS4220.1	5	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060416	0.36373	.	.	ENSG00000185129	ENST00000331327	T	0.33438	1.41	5.19	1.38	0.22167	.	0.058796	0.64402	D	0.000003	T	0.48187	0.1486	M	0.73598	2.24	0.50171	D	0.999859	D	0.64830	0.994	D	0.71414	0.973	T	0.33292	-0.9874	10	0.28530	T	0.3	-8.8043	9.6064	0.39637	0.2881:0.0:0.7119:0.0	.	277	Q00577	PURA_HUMAN	D	277	ENSP00000332706:E277D	ENSP00000332706:E277D	E	+	3	2	PURA	139474781	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.744000	0.38268	0.067000	0.16545	-0.808000	0.03180	GAG	PURA	-	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	ENSG00000185129		0.592	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PURA	HGNC	protein_coding	OTTHUMT00000251341.3	-	0	55	0	G	NM_005859		139494597	1	tier1	-	no_errors	ENST00000331327	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	139494597	G	T	139494597	3	4	143	1	0	0	0	0	1	0	0	0	12872	933	33	3	833	3	PURA	5	139494597	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	1348703	139494597	41420663	59	36235											
PCDHA2	56146	genome.wustl.edu	37	chr5	140174555	140174555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaggattggtaatggcGtcttctatcagaaggggccg	9	11	14	7	2	3	2	1	1	2	1	3	3	3	3	1	5	0	1	1	5	3	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:140174555G>A	ENST00000526136.1	+	1	6	c.6G>A	c.(4-6)gcG>gcA	p.A2A	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.A2A|PCDHA2_ENST00000378132.1_Silent_p.A2A	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	2					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTAATGGCGTCTTCTATCA	0.502																																																	0													42	50	47					5																	140174555		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.6G>A	5.37:g.140174555G>A			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A2	ENST00000526136.1	37	c.6	CCDS54914.1	5																																																																																			PCDHA2	-	NULL	ENSG00000204969		0.502	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	-	0	75	0	G	NM_018905		140174555	1	tier1	-	no_errors	ENST00000526136	ensembl	human	known	74_37	silent	15.00	51	9	SNP	0.003	A	A	140174555	G	A	140174555	2	1	143	1	0	0	0	0	0	0	0	1	11563	1132	40	1		1	PCDHA2	5	140174555	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	679958	140174555	40740705	60	36236											
PCDHGB1	56104	genome.wustl.edu	37	chr5	140731471	140731471	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcctgcgcgtgttggtGggcgacctcaatgacaatgc	7	9	15	10	3	1	2	1	2	0	0	1	3	1	2	2	2	3	1	2	2	2	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:140731471G>A	ENST00000523390.1	+	1	1644	c.1644G>A	c.(1642-1644)gtG>gtA	p.V548V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	548	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)			GCGTGTTGGTGGGCGACCTCA	0.697																																																	0													43	53	50					5																	140731471		2148	4255	6403	SO:0001819	synonymous_variant	0			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.1644G>A	5.37:g.140731471G>A			Q3SY75|Q9Y5C8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V548	ENST00000523390.1	37	c.1644	CCDS54923.1	5																																																																																			PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000254221		0.697	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	-	0	74	0	G	NM_018922		140731471	1	tier1	-	no_errors	ENST00000523390	ensembl	human	known	74_37	silent	19.64	45	11	SNP	0.999	A	A	140731471	G	A	140731471	2	1	143	1	0	0	0	0	0	0	0	1	11601	1335	47	3		3	PCDHGB1	5	140731471	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	556916	140731471	40183789	61	36237											
PCDHGA6	56109	genome.wustl.edu	37	chr5	140755185	140755185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccatcaactccgacactgGgattctgtacgccctgcgct	7	10	9	15	3	2	0	1	0	1	0	4	2	4	1	3	1	3	2	3	1	2	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:140755185G>A	ENST00000517434.1	+	1	1535	c.1535G>A	c.(1534-1536)gGg>gAg	p.G512E	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	512	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)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGACACTGGGATTCTGTAC	0.612																																																	0													102	119	113					5																	140755185		2167	4278	6445	SO:0001583	missense	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1535G>A	5.37:g.140755185G>A	ENSP00000429601:p.Gly512Glu		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G512E	ENST00000517434.1	37	c.1535	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	14.78	2.638336	0.47153	.	.	ENSG00000253731	ENST00000517434	D	0.91464	-2.85	5.0	5.0	0.66597	Cadherin (5);Cadherin-like (1);	0.000000	0.31370	U	0.007761	D	0.97851	0.9294	H	0.99740	4.74	0.47778	D	0.999516	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99293	1.0899	10	0.87932	D	0	.	18.851	0.92230	0.0:0.0:1.0:0.0	.	512;512	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	E	512	ENSP00000429601:G512E	ENSP00000429601:G512E	G	+	2	0	PCDHGA6	140735369	1.000000	0.71417	0.227000	0.23927	0.012000	0.07955	7.695000	0.84257	2.757000	0.94681	0.563000	0.77884	GGG	PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253731		0.612	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	-	0	95	0	G	NM_018919		140755185	1	tier1	-	no_errors	ENST00000517434	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	140755185	G	A	140755185	3	1	143	1	0	0	0	0	1	0	0	0	11597	1232	43	3	1537	3	PCDHGA6	5	140755185	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	23714	140755185	40160075	62	36238											
PCDHGA12	26025	genome.wustl.edu	37	chr5	140812130	140812130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagactccggccagaacGcctggctgtcctaccgtctg	8	7	11	15	3	1	2	0	0	1	2	3	3	3	2	5	2	2	1	5	2	2	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:140812130G>A	ENST00000252085.3	+	1	1946	c.1804G>A	c.(1804-1806)Gcc>Acc	p.A602T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	602	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGAACGCCTGGCTGTC	0.697																																																	0													38	46	43					5																	140812130		2198	4294	6492	SO:0001583	missense	0			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.1804G>A	5.37:g.140812130G>A	ENSP00000252085:p.Ala602Thr		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A602T	ENST00000252085.3	37	c.1804	CCDS4260.1	5	.	.	.	.	.	.	.	.	.	.	g	26.6	4.751392	0.89753	.	.	ENSG00000253159	ENST00000252085	T	0.60797	0.16	4.89	4.89	0.63831	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.82047	0.4952	M	0.92268	3.29	0.39099	D	0.961242	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	D	0.87852	0.2658	9	0.87932	D	0	.	18.4792	0.90806	0.0:0.0:1.0:0.0	.	602;602	O60330-2;O60330	.;PCDGC_HUMAN	T	602	ENSP00000252085:A602T	ENSP00000252085:A602T	A	+	1	0	PCDHGA12	140792314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.612000	0.67681	2.432000	0.82394	0.556000	0.70494	GCC	PCDHGA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253159		0.697	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2		0	117	0	G	NM_003735		140812130	1			no_errors	ENST00000252085	ensembl	human	known	74_37	missense	5.94	94	6	SNP	1.000	A	A	140812130	G	A	140812130	3	1	143	1	0	0	0	0	1	0	0	0	11592	1087	38	1	1806	1	PCDHGA12	5	140812130	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	56945	140812130	40103130	63	36239											
PWWP2A	114825	genome.wustl.edu	37	chr5	159520354	159520354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	cttttgtgccttttctttggCaatttttaacacttcccgag	6	19	6	10	1	1	0	0	0	1	0	2	1	2	0	2	1	2	1	2	1	2	9			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:159520354C>T	ENST00000307063.7	-	2	1337	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	PWWP2A_ENST00000456329.3_Missense_Mutation_p.A435T|PWWP2A_ENST00000523662.1_Missense_Mutation_p.A435T	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	435										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTTCTTTGGCAATTTTTAAC	0.383																																																	0													81	72	75					5																	159520354		1840	4097	5937	SO:0001583	missense	0				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.1303G>A	5.37:g.159520354C>T	ENSP00000305151:p.Ala435Thr		G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.A435T	ENST00000307063.7	37	c.1303	CCDS47332.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099533	0.76983	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.21031	2.03;2.03;2.03	5.54	5.54	0.83059	.	0.110686	0.64402	D	0.000011	T	0.36441	0.0967	L	0.29908	0.895	0.80722	D	1	P;D;D	0.89917	0.63;1.0;1.0	B;D;D	0.79784	0.123;0.993;0.993	T	0.03175	-1.1064	10	0.37606	T	0.19	-12.6177	19.1388	0.93439	0.0:1.0:0.0:0.0	.	435;435;435	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	T	435	ENSP00000390462:A435T;ENSP00000428143:A435T;ENSP00000305151:A435T	ENSP00000305151:A435T	A	-	1	0	PWWP2A	159452932	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.351000	0.66022	2.625000	0.88918	0.558000	0.71614	GCC	PWWP2A	-	NULL	ENSG00000170234		0.383	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PWWP2A	HGNC	protein_coding	OTTHUMT00000374092.1	-	0	48	0	C			159520354	-1	tier1	-	no_errors	ENST00000307063	ensembl	human	known	74_37	missense	12.77	41	6	SNP	1.000	T	T	159520354	C	T	159520354	3	4	143	1	0	0	0	0	1	0	0	0	12890	710	25	3	1110	3	PWWP2A	5	159520354	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	18708224	159520354	21394906	64	36240											
KCNIP1	30820	genome.wustl.edu	37	chr5	170145823	170145823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcccgagggactggagcaGctcgaggcccagaccaactt	9	4	14	14	3	0	1	0	0	0	1	1	5	0	3	3	4	3	2	3	4	1	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr5:170145823G>T	ENST00000411494.1	+	3	156	c.156G>T	c.(154-156)caG>caT	p.Q52H	KCNIP1_ENST00000434108.1_Missense_Mutation_p.Q41H|KCNIP1_ENST00000328939.4_Missense_Mutation_p.Q41H|KCNIP1_ENST00000520740.1_Missense_Mutation_p.Q13H|KCNIP1_ENST00000390656.4_Missense_Mutation_p.Q41H|KCNIP1_ENST00000377360.4_Missense_Mutation_p.Q50H			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	52	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACTGGAGCAGCTCGAGGCCC	0.552																																																	0													62	58	60					5																	170145823		2203	4300	6503	SO:0001583	missense	0			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.156G>T	5.37:g.170145823G>T	ENSP00000395323:p.Gln52His		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.Q52H	ENST00000411494.1	37	c.156	CCDS34286.1	5	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619313	0.66787	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.59	1.85	0.25348	EF-hand-like domain (1);	0.106093	0.64402	D	0.000003	T	0.43722	0.1260	M	0.77820	2.39	0.53005	D	0.999969	D;D;P;B	0.65815	0.995;0.975;0.526;0.285	P;P;B;B	0.61800	0.894;0.715;0.083;0.051	T	0.21655	-1.0239	9	.	.	.	.	9.2612	0.37614	0.2874:0.0:0.7126:0.0	.	41;41;52;50	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	H	50;41;41;13;41;52	ENSP00000366577:Q50H;ENSP00000329686:Q41H;ENSP00000375071:Q41H;ENSP00000431102:Q13H;ENSP00000414886:Q41H;ENSP00000395323:Q52H	.	Q	+	3	2	KCNIP1	170078401	1.000000	0.71417	0.978000	0.43139	0.977000	0.68977	2.111000	0.41883	0.053000	0.16036	0.655000	0.94253	CAG	KCNIP1	-	prints_Recoverin	ENSG00000182132		0.552	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	KCNIP1	HGNC	protein_coding	OTTHUMT00000371760.1	-	0	55	0	G			170145823	1	tier1	-	no_errors	ENST00000411494	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.998	T	T	170145823	G	T	170145823	3	4	143	1	0	0	0	0	1	0	0	0	8066	962	34	3	258	3	KCNIP1	5	170145823	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	10625469	170145823	10769437	65	36241											
LRRC16A	55604	genome.wustl.edu	37	chr6	25605048	25605048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaattttttagaagcttggGaatgatgccgtatcccagga	11	13	11	6	1	0	3	0	2	0	1	1	5	1	5	2	2	2	2	2	2	5	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:25605048G>A	ENST00000329474.6	+	34	3929	c.3561G>A	c.(3559-3561)ggG>ggA	p.G1187G		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1187					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGAAGCTTGGGAATGATGCCG	0.463																																																	0													14	13	14					6																	25605048		876	1991	2867	SO:0001819	synonymous_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3561G>A	6.37:g.25605048G>A			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.G1187	ENST00000329474.6	37	c.3561	CCDS54973.1	6																																																																																			LRRC16A	-	NULL	ENSG00000079691		0.463	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	-	0	58	0	G	NM_017640		25605048	1	tier1	-	no_errors	ENST00000329474	ensembl	human	novel	74_37	silent	23.73	45	14	SNP	1.000	A	A	25605048	G	A	25605048	2	1	143	1	0	0	0	0	0	0	0	1	9006	1161	41	3		3	LRRC16A	6	25605048	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09		25605048	145510019	66	36242											
TRIM15	89870	genome.wustl.edu	37	chr6	30131704	30131705	+	Frame_Shift_Del	DEL	TT	TT	-																															ctgggcccgctgggagaaacTtactgcgaggagcacggcga																										TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:30131704_30131705delTT	ENST00000376694.4	+	1	712_713	c.243_244delTT	c.(241-246)acttacfs	p.Y82fs	TRIM15_ENST00000376688.1_Frame_Shift_Del_p.Y82fs|TRIM10_ENST00000449742.2_5'Flank|TRIM10_ENST00000376704.3_5'Flank	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	82					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						TGGGAGAAACTTACTGCGAGGA	0.629																																																	0																																										SO:0001589	frameshift_variant	0			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.243_244delTT	6.37:g.30131704_30131705delTT	ENSP00000365884:p.Tyr82fs		A2BEC9|O95604|Q8IUX9|Q9C018	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Y82fs	ENST00000376694.4	37	c.243_244	CCDS4677.1	6																																																																																			TRIM15	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000204610		0.629	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM15	HGNC	protein_coding	OTTHUMT00000076026.2		0	40	0	TT	NM_033229		30131705	1	tier1		no_errors	ENST00000376694	ensembl	human	known	74_37	frame_shift_del	9.30	39	4	DEL	0.000:0.000	-	-	30131705	TT	-	30131704	7	5	143	1	0	1	0	1	0	0	0	0	16538	1596	56	0	245	0	TRIM15	6	30131704	Frame_Shift_Del	DEL	TT	TCGA-R6-A6L6-01B-11D-A33E-09	4526656	30131704	140983363	67	36243											
DDR1	780	genome.wustl.edu	37	chr6	30864562	30864562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgcccccaggggcagtcGgggatgggccccccagagtg	6	4	16	15	1	0	1	0	0	0	1	1	2	0	2	5	5	1	1	5	5	0	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:30864562G>A	ENST00000324771.8	+	15	2337	c.1789G>A	c.(1789-1791)Ggg>Agg	p.G597R	DDR1_ENST00000376569.3_Missense_Mutation_p.G560R|DDR1_ENST00000513240.1_Missense_Mutation_p.G597R|DDR1_ENST00000376567.2_Missense_Mutation_p.G560R|DDR1_ENST00000376568.3_Missense_Mutation_p.G597R|DDR1_ENST00000452441.1_Missense_Mutation_p.G597R|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.G578R|DDR1_ENST00000376575.3_Missense_Mutation_p.G597R|DDR1_ENST00000418800.2_Missense_Mutation_p.G560R|DDR1_ENST00000376570.4_Missense_Mutation_p.G560R|DDR1_ENST00000361741.4_Missense_Mutation_p.G264R|DDR1_ENST00000454612.2_Missense_Mutation_p.G560R			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	597	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)	AGGGGCAGTCGGGGATGGGCC	0.632																																																	0													50	58	55					6																	30864562		2203	4300	6503	SO:0001583	missense	0			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.1789G>A	6.37:g.30864562G>A	ENSP00000318217:p.Gly597Arg		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G597R	ENST00000324771.8	37	c.1789	CCDS34385.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.59|14.59	2.579924|2.579924	0.46006|0.46006	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741|ENST00000514434	D;D;D;D;D;D;D;D;D;D;D;T;T|.	0.85171|.	-1.83;-1.81;-1.81;-1.81;-1.95;-1.81;-1.83;-1.83;-1.82;-1.81;-1.95;-1.23;-1.3|.	5.21|5.21	5.21|5.21	0.72293|0.72293	Protein kinase-like domain (1);|.	0.127995|.	0.51477|.	D|.	0.000099|.	T|T	0.25005|0.25005	0.0607|0.0607	L|L	0.31926|0.31926	0.97|0.97	0.28043|0.28043	N|N	0.933672|0.933672	D;D;D;D|.	0.89917|.	1.0;0.994;0.996;1.0|.	D;P;P;D|.	0.72075|.	0.976;0.468;0.873;0.933|.	T|T	0.14924|0.14924	-1.0455|-1.0455	10|5	0.26408|.	T|.	0.33|.	.|.	14.2567|14.2567	0.66058|0.66058	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	578;329;597;597|.	B7Z2K0;A2ABM8;Q08345-5;Q08345|.	.;.;.;DDR1_HUMAN|.	R|Q	597;560;560;560;597;560;597;597;578;560;597;329;264|88	ENSP00000318217:G597R;ENSP00000407699:G560R;ENSP00000406091:G560R;ENSP00000365753:G560R;ENSP00000365759:G597R;ENSP00000365754:G560R;ENSP00000365752:G597R;ENSP00000405039:G597R;ENSP00000422442:G578R;ENSP00000365751:G560R;ENSP00000427552:G597R;ENSP00000398682:G329R;ENSP00000354844:G264R|.	ENSP00000318217:G597R|.	G|R	+|+	1|2	0|0	DDR1|DDR1	30972541|30972541	1.000000|1.000000	0.71417|0.71417	0.888000|0.888000	0.34837|0.34837	0.860000|0.860000	0.49131|0.49131	4.765000|4.765000	0.62271|0.62271	2.430000|2.430000	0.82344|0.82344	0.561000|0.561000	0.74099|0.74099	GGG|CGG	DDR1	-	superfamily_Kinase-like_dom	ENSG00000204580		0.632	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	HGNC	protein_coding	OTTHUMT00000076494.3	-	0	25	0	G	NM_013994		30864562	1	tier1	-	no_errors	ENST00000376575	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.517	A	A	30864562	G	A	30864562	3	1	143	1	0	0	0	0	1	0	0	0	4345	1116	39	1	1835	1	DDR1	6	30864562	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	732858	30864562	140250505	68	36244											
SFRS3	6428	genome.wustl.edu	37	chr6	36569506	36569506	+	Silent	SNP	A	A	G	1	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	tccctttctagagataggagAagagagagatcgctgtctcg	11	10	12	8	2	2	4	0	0	2	4	5	8	3	4	1	1	0	1	1	1	3	3	rs139583002	byFrequency	TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:36569506A>G	ENST00000373715.6	+	5	518	c.402A>G	c.(400-402)agA>agG	p.R134R		NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	134	2 X approximate repeats, basic.|Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GAGATAGGAGAAGAGAGAGAT	0.388																																																	0								A		1,4405	2.1+/-5.4	0,1,2202	154	166	162		402	1.8	1	6	dbSNP_134	162	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SRSF3	NM_003017.4		0,4,6499	GG,GA,AA		0.0349,0.0227,0.0308		134/165	36569506	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10785	protein-coding gene	gene with protein product		603364	"splicing factor, arginine/serine-rich 3"	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.402A>G	6.37:g.36569506A>G			B4E241|O08831|P23152|Q5R3K0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R134	ENST00000373715.6	37	c.402	CCDS4823.1	6																																																																																			SRSF3	-	NULL	ENSG00000112081		0.388	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF3	HGNC	protein_coding	OTTHUMT00000040347.2		0	21	0	A	NM_003017		36569506	1			no_errors	ENST00000373715	ensembl	human	known	74_37	silent	10.34	26	3	SNP	0.998	G	G	36569506	A	G	36569506	2	3	143	1	0	0	0	0	0	0	0	1	14223	243	9	4		4	SFRS3	6	36569506	Silent	SNP	A	TCGA-R6-A6L6-01B-11D-A33E-09	5704944	36569506	134545561	69	36245											
TBC1D22B	55633	genome.wustl.edu	37	chr6	37250673	37250673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagatgaactgaggaagtGtagctggccaggggttccca	11	8	14	8	0	0	3	0	2	0	1	1	4	1	4	2	4	3	3	2	4	4	3	rs367947387		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:37250673G>T	ENST00000373491.3	+	5	763	c.617G>T	c.(616-618)tGt>tTt	p.C206F		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	206							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CTGAGGAAGTGTAGCTGGCCA	0.498																																																	0													109	104	105					6																	37250673		2203	4300	6503	SO:0001583	missense	0			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.617G>T	6.37:g.37250673G>T	ENSP00000362590:p.Cys206Phe		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.C206F	ENST00000373491.3	37	c.617	CCDS4832.1	6	.	.	.	.	.	.	.	.	.	.	G	9.398	1.077298	0.20227	.	.	ENSG00000065491	ENST00000373491	T	0.03951	3.75	5.99	5.13	0.70059	Rab-GAP/TBC domain (1);	0.300496	0.42821	D	0.000649	T	0.01353	0.0044	N	0.04880	-0.145	0.46678	D	0.999156	B	0.12013	0.005	B	0.10450	0.005	T	0.49597	-0.8923	10	0.62326	D	0.03	.	14.4616	0.67453	0.0713:0.0:0.9287:0.0	.	206	Q9NU19	TB22B_HUMAN	F	206	ENSP00000362590:C206F	ENSP00000362590:C206F	C	+	2	0	TBC1D22B	37358651	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.103000	0.41806	1.553000	0.49476	-0.126000	0.14955	TGT	TBC1D22B	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000065491		0.498	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22B	HGNC	protein_coding	OTTHUMT00000040402.1	-	0	78	0	G	NM_017772		37250673	1	tier1	-	no_errors	ENST00000373491	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	37250673	G	T	37250673	3	4	143	1	0	0	0	0	1	0	0	0	15659	1377	48	3	635	3	TBC1D22B	6	37250673	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	681167	37250673	133864394	70	36246											
DNAH8	1769	genome.wustl.edu	37	chr6	38838224	38838224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcttaatcaatgacctgttCccaggactgcaactggatag	12	10	9	10	0	1	1	1	1	0	0	2	3	2	3	2	2	3	3	2	2	4	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:38838224C>A	ENST00000359357.3	+	47	6479	c.6225C>A	c.(6223-6225)ttC>ttA	p.F2075L	DNAH8_ENST00000449981.2_Missense_Mutation_p.F2292L|DNAH8_ENST00000441566.1_Missense_Mutation_p.F2039L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2075					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						ATGACCTGTTCCCAGGACTGC	0.408																																																	0													117	111	113					6																	38838224		2203	4300	6503	SO:0001583	missense	0			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.6225C>A	6.37:g.38838224C>A	ENSP00000352312:p.Phe2075Leu		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F2075L	ENST00000359357.3	37	c.6225		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.38|16.38	3.106041|3.106041	0.56291|0.56291	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566|ENST00000394393	T;T;T|.	0.22945|.	1.93;1.93;1.93|.	6.06|6.06	2.19|2.19	0.27852|0.27852	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82061|0.82061	0.4955|0.4955	H|H	0.97564|0.97564	4.03|4.03	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.84408|0.84408	0.0564|0.0564	10|5	0.72032|.	D|.	0.01|.	.|.	10.1206|10.1206	0.42618|0.42618	0.0:0.2554:0.0:0.7446|0.0:0.2554:0.0:0.7446	.|.	2075|.	Q96JB1|.	DYH8_HUMAN|.	L|Y	2280;2280;2075;2039|121	ENSP00000333363:F2280L;ENSP00000352312:F2075L;ENSP00000402294:F2039L|.	ENSP00000333363:F2280L|.	F|S	+|+	3|2	2|0	DNAH8|DNAH8	38946202|38946202	0.992000|0.992000	0.36948|0.36948	0.999000|0.999000	0.59377|0.59377	0.277000|0.277000	0.26821|0.26821	0.282000|0.282000	0.18829|0.18829	0.178000|0.178000	0.19917|0.19917	-1.105000|-1.105000	0.02106|0.02106	TTC|TCC	DNAH8	-	superfamily_P-loop_NTPase	ENSG00000124721		0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0	43	0	C	NM_001206927		38838224	1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	38838224	C	A	38838224	3	1	143	1	0	0	0	0	1	0	0	0	4621	854	30	3	6403	3	DNAH8	6	38838224	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	1587551	38838224	132276843	71	36247											
MAD2L1BP	9587	genome.wustl.edu	37	chr6	43608158	43608158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatcgagtgcccagccgggGccataaactgactgtgaccc	9	7	11	14	2	0	2	0	2	0	0	1	3	0	2	4	2	3	0	4	2	3	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:43608158G>T	ENST00000372171.4	+	3	770	c.713G>T	c.(712-714)gGc>gTc	p.G238V	MAD2L1BP_ENST00000451025.2_Missense_Mutation_p.G270V	NM_014628.2	NP_055443.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	238					mitotic cell cycle checkpoint (GO:0007093)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCCAGCCGGGGCCATAAACTG	0.557																																																	0													50	44	46					6																	43608158		2203	4300	6503	SO:0001583	missense	0			BC002904	CCDS4904.1, CCDS47431.1	6p21.1	2003-06-23			ENSG00000124688	ENSG00000124688			21059	protein-coding gene	gene with protein product						7788527, 12456649	Standard	NM_014628		Approved	CMT2, KIAA0110, dJ261G23.1	uc003ovu.3	Q15013	OTTHUMG00000014747	ENST00000372171.4:c.713G>T	6.37:g.43608158G>T	ENSP00000361244:p.Gly238Val		B4DLV3|E9PAT7|Q6IBB1	Missense_Mutation	SNP	pfam_MAD1/Cdc20-bound-Mad2-bd	p.G270V	ENST00000372171.4	37	c.809	CCDS4904.1	6	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655266	0.67472	.	.	ENSG00000124688	ENST00000451025;ENST00000372171	T	0.48836	0.8	5.09	5.09	0.68999	.	0.062135	0.64402	D	0.000004	T	0.43919	0.1269	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.996;0.991	P;P	0.60541	0.873;0.876	T	0.51926	-0.8643	10	0.87932	D	0	-0.0685	16.7112	0.85386	0.0:0.0:1.0:0.0	.	238;270	Q15013;E9PAT7	MD2BP_HUMAN;.	V	270;238	ENSP00000410818:G270V	ENSP00000361244:G238V	G	+	2	0	MAD2L1BP	43716136	1.000000	0.71417	0.991000	0.47740	0.915000	0.54546	6.930000	0.75858	2.365000	0.80145	0.555000	0.69702	GGC	MAD2L1BP	-	pfam_MAD1/Cdc20-bound-Mad2-bd	ENSG00000124688		0.557	MAD2L1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L1BP	HGNC	protein_coding	OTTHUMT00000040692.2		0	33	0	G	NM_014628		43608158	1			no_errors	ENST00000451025	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	43608158	G	T	43608158	3	4	143	1	0	0	0	0	1	0	0	0	9185	1203	42	3	873	3	MAD2L1BP	6	43608158	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	4769934	43608158	127506909	72	36248											
GPR110	266977	genome.wustl.edu	37	chr6	46984422	46984422	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggctgtcttagccttctCggcaacatgttcaatggctg	8	12	11	10	1	3	0	1	0	2	0	4	0	3	0	1	3	2	4	1	3	4	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:46984422C>A	ENST00000371253.2	-	8	909	c.694G>T	c.(694-696)Gag>Tag	p.E232*	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Nonsense_Mutation_p.E35*	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	232	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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						TTAGCCTTCTCGGCAACATGT	0.483																																																	0													105	89	94					6																	46984422		2203	4300	6503	SO:0001587	stop_gained	0			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.694G>T	6.37:g.46984422C>A	ENSP00000360299:p.Glu232*		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.E232*	ENST00000371253.2	37	c.694	CCDS34471.1	6	.	.	.	.	.	.	.	.	.	.	C	3.754	-0.050962	0.07407	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	.	.	.	5.71	1.96	0.26148	.	0.758879	0.11938	N	0.515016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-1.6264	10.6501	0.45642	0.0:0.7074:0.0:0.2926	.	.	.	.	X	232;232;35	.	ENSP00000283297:E35X	E	-	1	0	GPR110	47092381	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.235000	0.17948	-0.104000	0.12154	-1.814000	0.00607	GAG	GPR110	-	pfam_SEA_dom	ENSG00000153292		0.483	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	-	0	39	0	C	NM_153840		46984422	-1	tier1	-	no_errors	ENST00000371253	ensembl	human	known	74_37	nonsense	10.26	35	4	SNP	0.000	A	A	46984422	C	A	46984422	4	1	143	1	0	0	0	0	0	1	0	0	6653	893	31	2	2070	2	GPR110	6	46984422	Nonsense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	3376264	46984422	124130645	73	36249											
BAI3	577	genome.wustl.edu	37	chr6	69646560	69646560	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	caagggtttgcaataacactGccctctgtccaggtagtgtt	9	12	10	10	0	1	0	0	0	1	0	2	0	2	0	2	2	3	4	2	2	4	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:69646560G>T	ENST00000370598.1	+	5	1839	c.1018G>T	c.(1018-1020)Gcc>Tcc	p.A340S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	340	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)				CAATAACACTGCCCTCTGTCC	0.453																																																	0													99	74	83					6																	69646560		2203	4300	6503	SO:0001583	missense	0			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.1018G>T	6.37:g.69646560G>T	ENSP00000359630:p.Ala340Ser		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.A340S	ENST00000370598.1	37	c.1018	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341151	0.60963	.	.	ENSG00000135298	ENST00000370598	T	0.52526	0.66	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	L	0.58354	1.805	0.80722	D	1	B	0.25772	0.134	B	0.30179	0.112	T	0.23762	-1.0179	10	0.38643	T	0.18	.	19.2236	0.93808	0.0:0.0:1.0:0.0	.	340	O60242	BAI3_HUMAN	S	340	ENSP00000359630:A340S	ENSP00000359630:A340S	A	+	1	0	BAI3	69703281	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.545000	0.85829	0.585000	0.79938	GCC	BAI3	-	pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000135298		0.453	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	56	0	G			69646560	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	T	T	69646560	G	T	69646560	3	4	143	1	0	0	0	0	1	0	0	0	1301	1319	46	3	1028	3	BAI3	6	69646560	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	22662138	69646560	101468507	74	36250											
TRAF3IP2	10758	genome.wustl.edu	37	chr6	111884188	111884188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttagcatttgggaagaGcacagggatgaatctgaaat	13	11	11	6	0	2	3	0	2	2	1	2	5	2	5	0	2	2	2	0	2	4	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:111884188G>A	ENST00000340026.6	-	9	2152	c.1558C>T	c.(1558-1560)Ctc>Ttc	p.L520F	TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Missense_Mutation_p.L55F|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.L511F|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.L99F|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.L510F			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	520	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				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)		TTTGGGAAGAGCACAGGGATG	0.348																																																	0													90	76	81					6																	111884188		2203	4300	6503	SO:0001583	missense	0			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.1558C>T	6.37:g.111884188G>A	ENSP00000345984:p.Leu520Phe		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	pfam_SEFIR	p.L520F	ENST00000340026.6	37	c.1558		6	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858501	0.91433	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000392556;ENST00000340026;ENST00000359831;ENST00000368735	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36040	-0.9764	10	0.46703	T	0.11	-27.8804	20.3437	0.98782	0.0:0.0:1.0:0.0	.	510	Q7Z6Q1	.	F	520;511;99;520;510;55	ENSP00000357750:L511F;ENSP00000376339:L99F;ENSP00000345984:L520F;ENSP00000352889:L510F;ENSP00000357724:L55F	ENSP00000345984:L520F	L	-	1	0	TRAF3IP2	111990881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.735000	0.74806	2.815000	0.96918	0.561000	0.74099	CTC	TRAF3IP2	-	pfam_SEFIR	ENSG00000056972		0.348	TRAF3IP2-001	KNOWN	basic	protein_coding	TRAF3IP2	HGNC	protein_coding	OTTHUMT00000041841.2		0	25	0	G			111884188	-1			no_errors	ENST00000340026	ensembl	human	known	74_37	missense	6.06	30	2	SNP	1.000	A	A	111884188	G	A	111884188	3	1	143	1	0	0	0	0	1	0	0	0	16489	971	34	3	174	3	TRAF3IP2	6	111884188	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	42237628	111884188	59230879	75	36251											
TRAF3IP2	10758	genome.wustl.edu	37	chr6	111887731	111887731	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtcctgtttgtatttGgggctgattgctacgattat	6	17	10	8	2	0	1	0	1	0	0	2	2	2	1	2	2	2	4	2	2	3	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:111887731G>T	ENST00000340026.6	-	8	2013	c.1419C>A	c.(1417-1419)ccC>ccA	p.P473P	TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Silent_p.P8P|TRAF3IP2_ENST00000368761.5_Silent_p.P464P|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000392556.4_Silent_p.P52P|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Silent_p.P463P			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	473	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				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)		GTTTGTATTTGGGGCTGATTG	0.493																																																	0													262	196	218					6																	111887731		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1419C>A	6.37:g.111887731G>T			B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	pfam_SEFIR	p.P473	ENST00000340026.6	37	c.1419		6																																																																																			TRAF3IP2	-	pfam_SEFIR	ENSG00000056972		0.493	TRAF3IP2-001	KNOWN	basic	protein_coding	TRAF3IP2	HGNC	protein_coding	OTTHUMT00000041841.2	-	0	91	0	G			111887731	-1	tier1	-	no_errors	ENST00000340026	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	T	T	111887731	G	T	111887731	2	4	143	1	0	0	0	0	0	0	0	1	16489	1335	47	3		3	TRAF3IP2	6	111887731	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	3543	111887731	59227336	76	36252											
FRK	2444	genome.wustl.edu	37	chr6	116277717	116277717	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aagctggataagctttggatGtcttaggttcttcattatct	9	17	9	6	0	4	0	1	0	3	0	4	2	4	2	0	3	2	3	0	3	4	6	rs369393469		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:116277717G>T	ENST00000606080.1	-	5	1302	c.856C>A	c.(856-858)Cat>Aat	p.H286N	FRK_ENST00000538210.1_Missense_Mutation_p.H144N	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	286	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)	AGCTTTGGATGTCTTAGGTTC	0.378																																																	0													145	153	150					6																	116277717		2203	4300	6503	SO:0001583	missense	0			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.856C>A	6.37:g.116277717G>T	ENSP00000476145:p.His286Asn		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.H286N	ENST00000606080.1	37	c.856	CCDS5103.1	6	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677767	0.88445	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.53206	0.63;0.63	5.74	5.74	0.90152	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	0.000003	T	0.66577	0.2803	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68903	-0.5286	10	0.87932	D	0	.	19.9189	0.97077	0.0:0.0:1.0:0.0	.	286	P42685	FRK_HUMAN	N	286;144	ENSP00000357615:H286N;ENSP00000443075:H144N	ENSP00000357615:H286N	H	-	1	0	FRK	116384410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.707000	0.92482	0.655000	0.94253	CAT	FRK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000111816		0.378	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	HGNC	protein_coding	OTTHUMT00000041924.2	-	0	40	0	G	NM_002031		116277717	-1	tier1	-	no_errors	ENST00000606080	ensembl	human	known	74_37	missense	5.49	86	5	SNP	1.000	T	T	116277717	G	T	116277717	3	4	143	1	0	0	0	0	1	0	0	0	6072	1377	48	3	677	3	FRK	6	116277717	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	4389986	116277717	54837350	77	36253											
PPIL4	85313	genome.wustl.edu	37	chr6	149856809	149856809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatgtccatgccttctgtCacctcaccaaacaccgtatg	10	12	5	14	1	3	0	2	0	1	0	4	0	4	0	5	0	2	1	5	0	3	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:149856809C>T	ENST00000253329.2	-	5	419	c.387G>A	c.(385-387)gtG>gtA	p.V129V		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	129	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TGCCTTCTGTCACCTCACCAA	0.348																																																	0													138	123	128					6																	149856809		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.387G>A	6.37:g.149856809C>T			B2RD34|Q7Z3Q5	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.V129	ENST00000253329.2	37	c.387	CCDS34550.1	6																																																																																			PPIL4	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000131013		0.348	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL4	HGNC	protein_coding	OTTHUMT00000042642.1	-	0	51	0	C			149856809	-1	tier1	-	no_errors	ENST00000253329	ensembl	human	known	74_37	silent	23.61	55	17	SNP	0.999	T	T	149856809	C	T	149856809	2	4	143	1	0	0	0	0	0	0	0	1	12371	813	29	3		3	PPIL4	6	149856809	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	33579092	149856809	21258258	78	36254											
SYNE1	23345	genome.wustl.edu	37	chr6	152655226	152655226	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatggtaatctcttgttctCtgaagatcctcttccctttg	6	18	6	11	0	4	2	1	1	3	1	8	2	6	2	2	1	0	2	2	1	2	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:152655226C>T	ENST00000367255.5	-	77	13312	c.12711G>A	c.(12709-12711)caG>caA	p.Q4237Q	SYNE1_ENST00000341594.5_Silent_p.Q4102Q|SYNE1_ENST00000423061.1_Silent_p.Q4166Q|SYNE1_ENST00000265368.4_Silent_p.Q4237Q|SYNE1_ENST00000448038.1_Silent_p.Q4166Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4237					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)		CTCTTGTTCTCTGAAGATCCT	0.398										HNSCC(10;0.0054)																																							0													214	197	203					6																	152655226		2203	4300	6503	SO:0001819	synonymous_variant	0			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.12711G>A	6.37:g.152655226C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q4237	ENST00000367255.5	37	c.12711	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	52	0	C	NM_182961		152655226	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	8.62	53	5	SNP	1.000	T	T	152655226	C	T	152655226	2	4	143	1	0	0	0	0	0	0	0	1	15492	912	32	3		3	SYNE1	6	152655226	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	2798417	152655226	18459841	79	36255											
LPA	4018	genome.wustl.edu	37	chr6	160969601	160969601	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgagcatcgcgtcaggttGcagtactcccacctgatgct	7	11	10	13	2	2	2	1	2	1	0	4	2	3	2	2	1	4	5	2	1	1	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr6:160969601G>T	ENST00000316300.5	-	31	5108	c.5064C>A	c.(5062-5064)tgC>tgA	p.C1688*	LPA_ENST00000447678.1_Nonsense_Mutation_p.C1688*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4196	Kringle 15. {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)	GCGTCAGGTTGCAGTACTCCC	0.537																																																	0													87	94	92					6																	160969601		2203	4300	6503	SO:0001587	stop_gained	0			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.5064C>A	6.37:g.160969601G>T	ENSP00000321334:p.Cys1688*		Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.C1688*	ENST00000316300.5	37	c.5064	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	g	41	9.032644	0.99042	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.71	-1.2	0.09554	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5515	0.27800	0.5503:0.0:0.4497:0.0	.	.	.	.	X	1688	.	ENSP00000321334:C1688X	C	-	3	2	LPA	160889591	0.997000	0.39634	0.975000	0.42487	0.583000	0.36354	0.150000	0.16263	-0.165000	0.10908	0.436000	0.28706	TGC	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000198670		0.537	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0	144	0	G	NM_005577		160969601	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	nonsense	18.80	108	25	SNP	1.000	T	T	160969601	G	T	160969601	4	4	143	1	0	0	0	0	0	1	0	0	8938	1311	46	3	1094	3	LPA	6	160969601	Nonsense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	8314375	160969601	10145466	80	36256											
DNAH11	8701	genome.wustl.edu	37	chr7	21654793	21654793	+	Frame_Shift_Del	DEL	T	T	-																															gatgcaagaatctactcgtcTttttgaagtggctcttccag																										TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr7:21654793delT	ENST00000409508.3	+	21	3945	c.3914delT	c.(3913-3915)cttfs	p.L1305fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.L1305fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1305	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTACTCGTCTTTTTGAAGTG	0.398									Kartagener syndrome																																								0													125	118	120					7																	21654793		1851	4095	5946	SO:0001589	frameshift_variant	0	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.3914delT	7.37:g.21654793delT	ENSP00000475939:p.Leu1305fs		Q9UJ82	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F1306fs	ENST00000409508.3	37	c.3914		7																																																																																			DNAH11	-	NULL	ENSG00000105877		0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6		0	21	0	T	NM_003777		21654793	1	tier1		no_errors	ENST00000328843	ensembl	human	known	74_37	frame_shift_del	24.32	28	9	DEL	1.000	-	-	21654793	T	-	21654793	7	5	143	1	0	1	0	1	0	0	0	0	4613	1609	56	0	3996	0	DNAH11	7	21654793	Frame_Shift_Del	DEL	T	TCGA-R6-A6L6-01B-11D-A33E-09		21654793	137483870	81	36257											
SKAP2	8935	genome.wustl.edu	37	chr7	26779515	26779515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagtttaccttttctgcGtttttcaaggtagccagcct	6	17	7	11	1	3	0	2	0	1	0	3	0	3	0	3	1	4	3	3	1	3	8			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr7:26779515G>A	ENST00000345317.2	-	5	689	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_De_novo_Start_OutOfFrame	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	126	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R126C(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CCTTTTCTGCGTTTTTCAAGG	0.373																																																	1	Substitution - Missense(1)	skin(1)											74	70	71					7																	26779515		2203	4300	6503	SO:0001583	missense	0				CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.376C>T	7.37:g.26779515G>A	ENSP00000005587:p.Arg126Cys		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.R126C	ENST00000345317.2	37	c.376	CCDS5400.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058233	0.76074	.	.	ENSG00000005020	ENST00000345317;ENST00000535331;ENST00000432747	T;T	0.14391	2.51;2.51	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.06391	-1.0829	10	0.87932	D	0	-25.7679	17.008	0.86398	0.0:0.0:1.0:0.0	.	111;126	B7Z5N4;O75563	.;SKAP2_HUMAN	C	126;111;111	ENSP00000005587:R126C;ENSP00000408163:R111C	ENSP00000005587:R126C	R	-	1	0	SKAP2	26746040	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.504000	0.66968	2.746000	0.94184	0.591000	0.81541	CGC	SKAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000005020		0.373	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP2	HGNC	protein_coding	OTTHUMT00000214128.1	-	0	72	0	G			26779515	-1	tier1	-	no_errors	ENST00000345317	ensembl	human	known	74_37	missense	9.52	95	10	SNP	1.000	A	A	26779515	G	A	26779515	3	1	143	1	0	0	0	0	1	0	0	0	14401	1145	40	1	735	1	SKAP2	7	26779515	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	5124722	26779515	132359148	82	36258											
KIAA0895	23366	genome.wustl.edu	37	chr7	36397154	36397154	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaatgaatcttctgcatttAgaatagacttcttagcaagt	13	15	6	7	0	4	3	1	1	3	2	4	3	4	3	0	0	2	2	0	0	7	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr7:36397154A>G	ENST00000297063.6	-	3	274	c.224T>C	c.(223-225)cTa>cCa	p.L75P	KIAA0895_ENST00000338533.5_Missense_Mutation_p.L62P|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000317020.6_Missense_Mutation_p.L24P|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000415803.2_Missense_Mutation_p.L62P|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.L24P	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	75										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TTCTGCATTTAGAATAGACTT	0.353																																																	0													91	81	84					7																	36397154		1844	4092	5936	SO:0001583	missense	0			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.224T>C	7.37:g.36397154A>G	ENSP00000297063:p.Leu75Pro		B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	pfam_DUF1704	p.L75P	ENST00000297063.6	37	c.224	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190286	0.78789	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000415803	.	.	.	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	T	0.75975	0.3923	L	0.54323	1.7	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;0.999;0.999;0.999;0.999;0.999	T	0.78229	-0.2285	9	0.87932	D	0	-5.0875	16.1146	0.81295	1.0:0.0:0.0:0.0	.	24;24;62;75;62;24	B4DGN6;B7ZLT4;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;K0895_HUMAN;.;.	P	75;62;24;24;62	.	ENSP00000297063:L75P	L	-	2	0	KIAA0895	36363679	1.000000	0.71417	0.988000	0.46212	0.968000	0.65278	8.355000	0.90083	2.200000	0.70718	0.460000	0.39030	CTA	KIAA0895	-	NULL	ENSG00000164542		0.353	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	HGNC	protein_coding	OTTHUMT00000337717.1	-	0	34	0	A	NM_015314		36397154	-1	tier1	-	no_errors	ENST00000297063	ensembl	human	known	74_37	missense	24.62	49	16	SNP	1.000	G	G	36397154	A	G	36397154	3	3	143	1	0	0	0	0	1	0	0	0	8224	420	15	4	1358	4	KIAA0895	7	36397154	Missense_Mutation	SNP	A	TCGA-R6-A6L6-01B-11D-A33E-09	9617639	36397154	122741509	83	36259											
HECW1	23072	genome.wustl.edu	37	chr7	43360233	43360233	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcctctgggaatataGatgaggtcttgtccgaaaac	10	14	9	8	1	3	2	0	1	3	1	5	4	5	3	2	2	1	0	2	2	5	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr7:43360233G>T	ENST00000395891.2	+	5	957		c.e5-1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						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						TGGGAATATAGATGAGGTCTT	0.428																																																	0													95	90	92					7																	43360233		1862	4104	5966	SO:0001630	splice_region_variant	0			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.353-1G>T	7.37:g.43360233G>T			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Splice_Site	SNP	-	e3-1	ENST00000395891.2	37	c.353-1	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016374	0.93404	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECW1	43326758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.696000	0.98695	2.820000	0.97059	0.650000	0.86243	.	HECW1	-	-	ENSG00000002746		0.428	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2		0	59	0	G	NM_015052	Intron	43360233	1			no_errors	ENST00000395891	ensembl	human	known	74_37	splice_site	5.26	36	2	SNP	1.000	T	T	43360233	G	T	43360233	5	4	143	1	0	0	0	0	0	0	1	0	7069	956	33	3	362	3	HECW1	7	43360233	Splice_Site	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	6963079	43360233	115778430	84	36260											
WBSCR17	64409	genome.wustl.edu	37	chr7	70886046	70886046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtgcatgtacatcagccCcccaaaagactggtgggacg	10	7	13	11	1	1	1	1	0	0	1	1	2	1	2	3	3	3	2	3	3	3	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr7:70886046C>A	ENST00000333538.5	+	5	1551	c.917C>A	c.(916-918)cCc>cAc	p.P306H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	306					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)				TACATCAGCCCCCCAAAAGAC	0.582																																																	0													79	77	78					7																	70886046		2203	4300	6503	SO:0001583	missense	0			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.917C>A	7.37:g.70886046C>A	ENSP00000329654:p.Pro306His		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P306H	ENST00000333538.5	37	c.917	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802580	0.90623	.	.	ENSG00000185274	ENST00000333538	T	0.61158	0.13	5.32	5.32	0.75619	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.81211	0.4775	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85292	0.1068	10	0.87932	D	0	.	18.0015	0.89199	0.0:1.0:0.0:0.0	.	306	Q6IS24	GLTL3_HUMAN	H	306	ENSP00000329654:P306H	ENSP00000329654:P306H	P	+	2	0	WBSCR17	70523982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.490000	0.84030	0.557000	0.71058	CCC	WBSCR17	-	pfam_Glyco_trans_2	ENSG00000185274		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1		0	51	0	C	NM_022479		70886046	1			no_errors	ENST00000333538	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	70886046	C	A	70886046	3	1	143	1	0	0	0	0	1	0	0	0	17313	623	22	3	935	3	WBSCR17	7	70886046	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	27525813	70886046	88252617	85	36261											
FZD9	8326	genome.wustl.edu	37	chr7	72849811	72849811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcggccgcggggcccGgaggccggagggactgctcg	4	2	21	14	7	0	0	0	0	0	0	1	3	0	3	3	7	2	2	3	7	0	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr7:72849811G>A	ENST00000344575.3	+	1	1703	c.1474G>A	c.(1474-1476)Gga>Aga	p.G492R		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	492					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCGGGGCCCGGAGGCCGGAG	0.652																																					Pancreas(144;909 1878 36867 38226 39554)												0													28	31	30					7																	72849811		2198	4297	6495	SO:0001583	missense	0			U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1474G>A	7.37:g.72849811G>A	ENSP00000345785:p.Gly492Arg			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.G492R	ENST00000344575.3	37	c.1474	CCDS5548.1	7	.	.	.	.	.	.	.	.	.	.	G	7.667	0.686159	0.14973	.	.	ENSG00000188763	ENST00000344575	D	0.81908	-1.55	4.88	4.88	0.63580	GPCR, family 2-like (1);	0.239110	0.19239	U	0.119218	T	0.75102	0.3804	L	0.40543	1.245	0.48696	D	0.999698	B	0.23185	0.081	B	0.16722	0.016	T	0.69168	-0.5216	10	0.17369	T	0.5	.	13.553	0.61743	0.0:0.1692:0.8308:0.0	.	492	O00144	FZD9_HUMAN	R	492	ENSP00000345785:G492R	ENSP00000345785:G492R	G	+	1	0	FZD9	72487747	0.973000	0.33851	0.434000	0.26772	0.534000	0.34807	2.663000	0.46774	2.261000	0.74972	0.563000	0.77884	GGA	FZD9	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000188763		0.652	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD9	HGNC	protein_coding	OTTHUMT00000252120.1		0	40	0	G			72849811	1			no_errors	ENST00000344575	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.962	A	A	72849811	G	A	72849811	3	1	143	1	0	0	0	0	1	0	0	0	6161	1117	39	1	1476	1	FZD9	7	72849811	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	1963765	72849811	86288852	86	36262											
YWHAG	7532	genome.wustl.edu	37	chr7	75959220	75959220	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtcgcccttttctctcCggtggccacttcagccaggt	4	11	9	17	3	2	0	1	0	1	0	5	0	3	0	5	3	1	0	5	3	0	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr7:75959220C>A	ENST00000307630.3	-	2	640	c.418G>T	c.(418-420)Gga>Tga	p.G140*		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	140					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CTTTTCTCTCCGGTGGCCACT	0.562																																																	0													137	137	137					7																	75959220		2203	4300	6503	SO:0001587	stop_gained	0			AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"14-3-3 gamma", "protein phosphatase 1, regulatory subunit 170"	605356	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.418G>T	7.37:g.75959220C>A	ENSP00000306330:p.Gly140*		O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Nonsense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.G140*	ENST00000307630.3	37	c.418	CCDS5584.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.109776	0.97291	.	.	ENSG00000170027	ENST00000307630;ENST00000536755;ENST00000453207	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2853	0.90112	0.0:1.0:0.0:0.0	.	.	.	.	X	140;118;100	.	ENSP00000306330:G140X	G	-	1	0	YWHAG	75797156	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.616000	0.83018	2.793000	0.96121	0.650000	0.86243	GGA	YWHAG	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000170027		0.562	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAG	HGNC	protein_coding	OTTHUMT00000253002.1		0	35	0	C	NM_012479		75959220	-1			no_errors	ENST00000307630	ensembl	human	known	74_37	nonsense	6.78	54	4	SNP	1.000	A	A	75959220	C	A	75959220	4	1	143	1	0	0	0	0	0	1	0	0	17552	661	23	2	329	2	YWHAG	7	75959220	Nonsense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	3109409	75959220	83179443	87	36263											
MAGI2	9863	genome.wustl.edu	37	chr7	77797250	77797250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctccacatagcacctttCttctcacagtgaggttgacc	9	12	6	14	0	2	2	1	2	2	0	4	2	3	2	4	1	2	2	4	1	2	5	rs375028312		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr7:77797250C>G	ENST00000354212.4	-	15	2832	c.2579G>C	c.(2578-2580)aGa>aCa	p.R860T	MAGI2_ENST00000419488.1_Missense_Mutation_p.R846T|MAGI2_ENST00000522391.1_Missense_Mutation_p.R860T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	860	PDZ 4. {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)				TAGCACCTTTCTTCTCACAGT	0.517																																																	0													236	219	225					7																	77797250		2203	4300	6503	SO:0001583	missense	0			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.2579G>C	7.37:g.77797250C>G	ENSP00000346151:p.Arg860Thr		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.R860T	ENST00000354212.4	37	c.2579	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768046	0.90020	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.58210	0.35;0.55;0.55	5.96	5.96	0.96718	PDZ/DHR/GLGF (3);	0.000000	0.39985	U	0.001218	T	0.81941	0.4929	H	0.96633	3.855	0.80722	D	1	P;D;P	0.65815	0.546;0.995;0.799	B;D;B	0.63957	0.202;0.92;0.202	D	0.87264	0.2281	10	0.87932	D	0	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	860;846;860	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	T	846;860;860;860	ENSP00000405766:R846T;ENSP00000346151:R860T;ENSP00000428389:R860T	ENSP00000346151:R860T	R	-	2	0	MAGI2	77635186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.831000	0.97527	0.650000	0.86243	AGA	MAGI2	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000187391		0.517	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	-	0	79	0	C	NM_012301		77797250	-1	tier1	-	no_errors	ENST00000354212	ensembl	human	known	74_37	missense	21.88	50	14	SNP	1.000	G	G	77797250	C	G	77797250	3	3	143	1	0	0	0	0	1	0	0	0	9229	913	32	5	1820	5	MAGI2	7	77797250	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	1838030	77797250	81341413	88	36264											
CTTNBP2	83992	genome.wustl.edu	37	chr7	117431583	117431583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgggggtgtggtggagaaGgagtttgggagagccctggc	6	9	22	4	0	0	2	0	0	0	2	0	5	0	3	1	7	1	2	1	7	1	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr7:117431583G>T	ENST00000160373.3	-	4	1758	c.1667C>A	c.(1666-1668)cCt>cAt	p.P556H	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	556	Pro-rich.				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)		TGGTGGAGAAGGAGTTTGGGA	0.512																																																	0													115	124	121					7																	117431583		2203	4300	6503	SO:0001583	missense	0				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.1667C>A	7.37:g.117431583G>T	ENSP00000160373:p.Pro556His		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P556H	ENST00000160373.3	37	c.1667	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960735	0.74016	.	.	ENSG00000077063	ENST00000160373	T	0.79247	-1.25	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.90452	0.7010	M	0.89478	3.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.91668	0.5348	10	0.87932	D	0	0.219	19.6369	0.95737	0.0:0.0:1.0:0.0	.	556	Q8WZ74	CTTB2_HUMAN	H	556	ENSP00000160373:P556H	ENSP00000160373:P556H	P	-	2	0	CTTNBP2	117218819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.717000	0.92951	0.563000	0.77884	CCT	CTTNBP2	-	NULL	ENSG00000077063		0.512	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4		0	53	0	G	NM_033427		117431583	-1			no_errors	ENST00000160373	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	117431583	G	T	117431583	3	4	143	1	0	0	0	0	1	0	0	0	4054	1000	35	3	3404	3	CTTNBP2	7	117431583	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	39634333	117431583	41707080	89	36265											
CADPS2	93664	genome.wustl.edu	37	chr7	122033528	122033528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtctcctgctcaaaacctCtgtgaattgactgggcgatg	9	12	10	10	1	3	2	1	2	2	0	4	3	3	2	2	1	2	1	2	1	3	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr7:122033528C>G	ENST00000449022.2	-	21	2874	c.2855G>C	c.(2854-2856)aGa>aCa	p.R952T	CADPS2_ENST00000412584.2_Missense_Mutation_p.R946T|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000334010.7_Missense_Mutation_p.R950T|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.R946T	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	952	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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						CTCAAAACCTCTGTGAATTGA	0.458																																																	0													154	148	150					7																	122033528		1973	4171	6144	SO:0001583	missense	0				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.2855G>C	7.37:g.122033528C>G	ENSP00000398481:p.Arg952Thr		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R952T	ENST00000449022.2	37	c.2855	CCDS55158.1	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.86|15.86|15.86	2.959007|2.959007|2.959007	0.53400|0.53400|0.53400	.|.|.	.|.|.	ENSG00000081803|ENSG00000081803|ENSG00000081803	ENST00000462699|ENST00000397721|ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.|.|T;T;T;T	.|.|0.33438	.|.|1.41;1.41;1.41;1.41	5.63|5.63|5.63	5.63|5.63|5.63	0.86233|0.86233|0.86233	.|.|Munc13 homology 1 (1);	.|.|0.055774	.|.|0.64402	.|.|D	.|.|0.000001	T|T|T	0.34745|0.34745|0.34745	0.0908|0.0908|0.0908	L|L|L	0.59436|0.59436|0.59436	1.845|1.845|1.845	0.49213|0.49213|0.49213	D|D|D	0.999767|0.999767|0.999767	.|.|P;P;P;B	.|.|0.40909	.|.|0.732;0.609;0.732;0.135	.|.|B;B;B;B	.|.|0.41666	.|.|0.283;0.363;0.264;0.059	T|T|T	0.13575|0.13575|0.13575	-1.0504|-1.0504|-1.0504	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-21.798|-21.798|-21.798	13.2787|13.2787|13.2787	0.60202|0.60202|0.60202	0.0:0.9274:0.0:0.0726|0.0:0.9274:0.0:0.0726|0.0:0.9274:0.0:0.0726	.|.|.	.|.|956;946;952;946	.|.|B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3	.|.|.;.;CAPS2_HUMAN;.	Q|H|T	146|594|125;946;950;957;913;946;952	.|.|ENSP00000325581:R946T;ENSP00000333940:R950T;ENSP00000400401:R946T;ENSP00000398481:R952T	.|.|ENSP00000325581:R946T	E|Q|R	-|-|-	1|3|2	0|2|0	CADPS2|CADPS2|CADPS2	121820764|121820764|121820764	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	4.019000|4.019000|4.019000	0.57181|0.57181|0.57181	2.805000|2.805000|2.805000	0.96524|0.96524|0.96524	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|CAG|AGA	CADPS2	-	NULL	ENSG00000081803		0.458	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	-	0	80	0	C	NM_017954		122033528	-1	tier1	-	no_errors	ENST00000449022	ensembl	human	known	74_37	missense	22.58	48	14	SNP	1.000	G	G	122033528	C	G	122033528	3	3	143	1	0	0	0	0	1	0	0	0	2578	913	32	5	1094	5	CADPS2	7	122033528	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	4601945	122033528	37105135	90	36266											
BRAF	673	genome.wustl.edu	37	chr7	140501350	140501350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgctaaggtgaaaaacGtttttcgtacctgcaaagta	16	11	8	6	2	0	1	0	1	0	0	1	1	0	1	1	1	4	5	1	1	8	5	rs387906660		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr7:140501350G>A	ENST00000288602.6	-	6	782	c.722C>T	c.(721-723)aCg>aTg	p.T241M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	241			T -> M (in a patient with Noonan syndrome). {ECO:0000269|PubMed:19206169}.|T -> P (in CFC1 and LEOPARD3). {ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|T -> R (in a patient with Noonan syndrome). {ECO:0000269|PubMed:19206169}.		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)	GGTGAAAAACGTTTTTCGTAC	0.348		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													37	34	35					7																	140501350		2203	4300	6503	SO:0001583	missense	0	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.722C>T	7.37:g.140501350G>A	ENSP00000288602:p.Thr241Met		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.T241M	ENST00000288602.6	37	c.722	CCDS5863.1	7	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608871	0.87258	.	.	ENSG00000157764	ENST00000288602	D	0.93488	-3.23	5.17	5.17	0.71159	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98730	1.0712	10	0.87932	D	0	.	18.6773	0.91532	0.0:0.0:1.0:0.0	.	241	P15056	BRAF_HUMAN	M	241	ENSP00000288602:T241M	ENSP00000288602:T241M	T	-	2	0	BRAF	140147819	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.809000	0.99208	2.407000	0.81776	0.561000	0.74099	ACG	BRAF	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd	ENSG00000157764		0.348	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	-	0	25	0	G	NM_004333		140501350	-1	tier1	-	no_errors	ENST00000288602	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A	A	140501350	G	A	140501350	3	1	143	1	0	0	0	0	1	0	0	0	1500	1145	40	1	1630	1	BRAF	7	140501350	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	18467822	140501350	18637313	91	36267											
EPHA1	2041	genome.wustl.edu	37	chr7	143094701	143094701	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaaggctgcaccaagcagCagcccaaagatgacggctac	14	3	11	13	1	0	2	0	1	0	1	0	2	0	2	2	2	6	6	2	2	4	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr7:143094701C>T	ENST00000275815.3	-	9	1751	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	555					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)				CACCAAGCAGCAGCCCAAAGA	0.592																																																	0													85	82	83					7																	143094701		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1665G>A	7.37:g.143094701C>T			A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.L555	ENST00000275815.3	37	c.1665	CCDS5884.1	7																																																																																			EPHA1	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000146904		0.592	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1	-	0	51	0	C			143094701	-1	tier1	-	no_errors	ENST00000275815	ensembl	human	known	74_37	silent	8.33	55	5	SNP	0.917	T	T	143094701	C	T	143094701	2	4	143	1	0	0	0	0	0	0	0	1	5181	697	25	3		3	EPHA1	7	143094701	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	2593351	143094701	16043962	92	36268											
FBXO25	26260	genome.wustl.edu	37	chr8	408445	408445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctataccggttctcagacgGatgggacatcatcaccttag	10	10	9	12	2	3	1	3	0	1	1	4	3	3	3	3	3	1	1	3	3	3	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr8:408445G>T	ENST00000276326.5	+	8	856	c.737G>T	c.(736-738)gGa>gTa	p.G246V	FBXO25_ENST00000352684.2_Missense_Mutation_p.G179V|FBXO25_ENST00000382824.1_Missense_Mutation_p.G179V|FBXO25_ENST00000350302.3_Missense_Mutation_p.G246V|FBXO25_ENST00000519376.1_3'UTR	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	246	F-box.				protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TTCTCAGACGGATGGGACATC	0.483																																																	0													210	165	180					8																	408445		2203	4300	6503	SO:0001583	missense	0			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"F-boxes /  "other""	13596	protein-coding gene	gene with protein product		609098	"F-box only protein 25"			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.737G>T	8.37:g.408445G>T	ENSP00000276326:p.Gly246Val		Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	superfamily_F-box_dom	p.G246V	ENST00000276326.5	37	c.737	CCDS5953.1	8	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813424	0.50527	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000382824	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	4.32	4.32	0.51571	F-box domain, Skp2-like (1);	0.052813	0.64402	D	0.000001	T	0.30947	0.0781	L	0.52573	1.65	0.80722	D	1	P;D;D	0.61080	0.775;0.989;0.989	B;P;P	0.56700	0.436;0.804;0.804	T	0.01557	-1.1325	10	0.39692	T	0.17	-27.8126	10.6767	0.45789	0.0:0.1952:0.8048:0.0	.	179;246;246	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	V	246;179;246;179	ENSP00000342077:G246V;ENSP00000341345:G179V;ENSP00000276326:G246V;ENSP00000372274:G179V	ENSP00000276326:G246V	G	+	2	0	FBXO25	398445	1.000000	0.71417	0.612000	0.29024	0.929000	0.56500	4.568000	0.60857	2.089000	0.63090	0.591000	0.81541	GGA	FBXO25	-	superfamily_F-box_dom	ENSG00000147364		0.483	FBXO25-001	KNOWN	basic|CCDS	protein_coding	FBXO25	HGNC	protein_coding	OTTHUMT00000206710.2		0	52	0	G	NM_012173		408445	1			no_errors	ENST00000276326	ensembl	human	known	74_37	missense	5.17	54	3	SNP	0.999	T	T	408445	G	T	408445	3	4	143	1	0	0	0	0	1	0	0	0	5758	1174	41	3	763	3	FBXO25	8	408445	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09		408445	145955577	93	36269											
PRSS55	203074	genome.wustl.edu	37	chr8	10396231	10396231	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccagtctcgggagtcccagaGccaggcagccccagatcctg	8	5	12	16	1	1	2	0	0	1	2	4	3	3	3	6	2	2	1	6	2	0	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr8:10396231G>T	ENST00000328655.3	+	5	1027	c.987G>T	c.(985-987)gaG>gaT	p.E329D	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	329						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						GAGTCCCAGAGCCAGGCAGCC	0.512																																																	0													98	111	106					8																	10396231		2203	4300	6503	SO:0001583	missense	0			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.987G>T	8.37:g.10396231G>T	ENSP00000333003:p.Glu329Asp		E5RJX5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.E329D	ENST00000328655.3	37	c.987	CCDS5976.1	8	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290522	0.23478	.	.	ENSG00000184647	ENST00000328655	D	0.88586	-2.4	3.64	-0.133	0.13485	.	1.413030	0.05311	N	0.524725	T	0.76601	0.4010	N	0.24115	0.695	0.09310	N	1	P	0.35011	0.48	B	0.30855	0.121	T	0.64394	-0.6418	10	0.20519	T	0.43	.	1.7349	0.02940	0.1123:0.1798:0.3829:0.325	.	329	Q6UWB4	PRS55_HUMAN	D	329	ENSP00000333003:E329D	ENSP00000333003:E329D	E	+	3	2	PRSS55	10433641	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.281000	0.18810	-0.035000	0.13691	-0.127000	0.14921	GAG	PRSS55	-	NULL	ENSG00000184647		0.512	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS55	HGNC	protein_coding	OTTHUMT00000251493.3		0	35	0	G	NM_198464		10396231	1			no_errors	ENST00000328655	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.006	T	T	10396231	G	T	10396231	3	4	143	1	0	0	0	0	1	0	0	0	12676	962	34	3	1005	3	PRSS55	8	10396231	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	9987786	10396231	135967791	94	36270											
EPHX2	2053	genome.wustl.edu	37	chr8	27373843	27373843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgttttctagatccctGctctggcccaggcaggttac	5	15	10	11	0	2	1	0	0	2	1	3	1	3	1	2	3	2	5	2	3	2	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr8:27373843G>T	ENST00000521400.1	+	8	1268	c.838G>T	c.(838-840)Gct>Tct	p.A280S	EPHX2_ENST00000518379.1_Missense_Mutation_p.A248S|EPHX2_ENST00000380476.3_Missense_Mutation_p.A227S|EPHX2_ENST00000521780.1_Missense_Mutation_p.A214S|EPHX2_ENST00000517536.1_Missense_Mutation_p.A97S	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	280	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.A280S(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		CTAGATCCCTGCTCTGGCCCA	0.542											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	lung(1)											367	311	330					8																	27373843		2203	4300	6503	SO:0001583	missense	0			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.838G>T	8.37:g.27373843G>T	ENSP00000430269:p.Ala280Ser	793	B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_HAD-SF_hydro_IA,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA	p.A280S	ENST00000521400.1	37	c.838	CCDS6060.1	8	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524441	0.64747	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	5.67	5.67	0.87782	.	0.044847	0.85682	D	0.000000	T	0.10723	0.0262	L	0.60845	1.875	0.51482	D	0.999926	P;P;P	0.45902	0.668;0.868;0.801	B;B;P	0.45881	0.318;0.446;0.496	T	0.01084	-1.1457	10	0.46703	T	0.11	-9.8483	17.2762	0.87116	0.0:0.0:1.0:0.0	.	248;280;280	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	S	280;97;214;227;284;248	ENSP00000430269:A280S;ENSP00000428875:A97S;ENSP00000430302:A214S;ENSP00000369843:A227S;ENSP00000427956:A248S	ENSP00000369843:A227S	A	+	1	0	EPHX2	27429760	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.425000	0.66470	2.677000	0.91161	0.561000	0.74099	GCT	EPHX2	-	prints_Epox_hydrolase-like	ENSG00000120915		0.542	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX2	HGNC	protein_coding	OTTHUMT00000219954.4		0	47	0	G			27373843	1			no_errors	ENST00000521400	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T	T	27373843	G	T	27373843	3	4	143	1	0	0	0	0	1	0	0	0	5196	1319	46	3	868	3	EPHX2	8	27373843	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	16977612	27373843	118990179	95	36271											
IDO1	3620	genome.wustl.edu	37	chr8	39771476	39771476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaactcctggacaatcaGtaaagagtaccatattgatg	16	9	9	7	0	1	2	1	1	0	1	2	4	2	4	2	2	2	2	2	2	7	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr8:39771476G>T	ENST00000518237.1	+	1	674	c.35G>T	c.(34-36)aGt>aTt	p.S12I	RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.2_ENST00000520185.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.S12I	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	12					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	TGGACAATCAGTAAAGAGTAC	0.428																																																	0													83	82	83					8																	39771476		1939	4141	6080	SO:0001583	missense	0			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.35G>T	8.37:g.39771476G>T	ENSP00000430950:p.Ser12Ile		Q540B4	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.S12I	ENST00000518237.1	37	c.35	CCDS47847.1	8	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990757	0.18966	.	.	ENSG00000131203	ENST00000518804;ENST00000519154;ENST00000522495;ENST00000522840;ENST00000518237	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.51	-10.5	0.00291	.	4.187620	0.00616	N	0.000436	T	0.18467	0.0443	N	0.17474	0.49	0.09310	N	1	B	0.17465	0.022	B	0.12837	0.008	T	0.09907	-1.0653	9	.	.	.	3.1058	1.6506	0.02771	0.4295:0.0937:0.2718:0.205	.	12	P14902	I23O1_HUMAN	I	12	ENSP00000429297:S12I;ENSP00000428716:S12I;ENSP00000430505:S12I;ENSP00000429933:S12I;ENSP00000430950:S12I	.	S	+	2	0	IDO1	39890633	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.736000	0.04882	-1.676000	0.01457	-0.353000	0.07706	AGT	IDO1	-	pfam_Indolamine_dOase	ENSG00000131203		0.428	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDO1	HGNC	protein_coding	OTTHUMT00000376987.1		0	70	0	G	NM_002164		39771476	1			no_errors	ENST00000518237	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.000	T	T	39771476	G	T	39771476	3	4	143	1	0	0	0	0	1	0	0	0	7528	1029	36	3	37	3	IDO1	8	39771476	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	12397633	39771476	106592546	96	36272											
C8orf46	254778	genome.wustl.edu	37	chr8	67417674	67417674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgccccaccgcggagaccGcagggaccctggcgaccgcc	6	2	14	19	5	0	1	0	0	0	1	0	4	0	2	7	3	1	2	7	3	0	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr8:67417674G>A	ENST00000305454.3	+	3	632	c.191G>A	c.(190-192)cGc>cAc	p.R64H	C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000522977.1_Missense_Mutation_p.R64H|C8orf46_ENST00000480005.1_Missense_Mutation_p.R64H|C8orf46_ENST00000521495.1_Missense_Mutation_p.R64H	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	64										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CGCGGAGACCGCAGGGACCCT	0.721																																																	0													10	14	13					8																	67417674		2166	4220	6386	SO:0001583	missense	0			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.191G>A	8.37:g.67417674G>A	ENSP00000302260:p.Arg64His		B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	NULL	p.R64H	ENST00000305454.3	37	c.191	CCDS6191.2	8	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493101	0.64186	.	.	ENSG00000169085	ENST00000305454;ENST00000521495;ENST00000522977;ENST00000480005	.	.	.	5.62	2.87	0.33458	.	0.261400	0.34268	N	0.004117	T	0.47893	0.1470	L	0.32530	0.975	0.09310	N	1	D;B	0.76494	0.999;0.002	D;B	0.80764	0.994;0.003	T	0.27905	-1.0060	9	0.48119	T	0.1	-0.8901	8.2296	0.31590	0.2503:0.0:0.7497:0.0	.	64;64	Q8TAG6-2;Q8TAG6	.;CH046_HUMAN	H	64	.	ENSP00000302260:R64H	R	+	2	0	C8orf46	67580228	0.035000	0.19736	0.391000	0.26233	0.576000	0.36127	0.621000	0.24418	0.413000	0.25759	0.655000	0.94253	CGC	C8orf46	-	NULL	ENSG00000169085		0.721	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf46	HGNC	protein_coding	OTTHUMT00000347010.1	-	0	33	0	G	NM_152765		67417674	1	tier1	-	no_errors	ENST00000305454	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.029	A	A	67417674	G	A	67417674	3	1	143	1	0	0	0	0	1	0	0	0	2438	1087	38	1	201	1	C8orf46	8	67417674	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	27646198	67417674	78946348	97	36273											
TRPA1	8989	genome.wustl.edu	37	chr8	72981315	72981315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagaggagccatcatgttGaagtttcggagatttgggtt	9	13	15	4	1	1	3	1	1	0	2	2	6	1	4	1	4	1	3	1	4	1	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr8:72981315G>C	ENST00000262209.4	-	3	594	c.387C>G	c.(385-387)ttC>ttG	p.F129L		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	129					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCATCATGTTGAAGTTTCGGA	0.478																																																	0													229	243	238					8																	72981315		2203	4300	6503	SO:0001583	missense	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.387C>G	8.37:g.72981315G>C	ENSP00000262209:p.Phe129Leu		A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F129L	ENST00000262209.4	37	c.387	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	G	3.877	-0.026769	0.07589	.	.	ENSG00000104321	ENST00000262209	T	0.15017	2.46	5.74	3.86	0.44501	Ankyrin repeat-containing domain (4);	2.273830	0.01005	N	0.003745	T	0.11067	0.0270	N	0.05414	-0.055	0.24063	N	0.996005	B	0.09022	0.002	B	0.06405	0.002	T	0.24333	-1.0163	10	0.30854	T	0.27	2.6832	6.7882	0.23685	0.0697:0.1252:0.6676:0.1375	.	129	O75762	TRPA1_HUMAN	L	129	ENSP00000262209:F129L	ENSP00000262209:F129L	F	-	3	2	TRPA1	73143869	0.852000	0.29690	0.131000	0.22000	0.204000	0.24138	1.768000	0.38511	0.691000	0.31592	0.655000	0.94253	TTC	TRPA1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.478	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0	69	0	G	NM_007332		72981315	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	missense	13.51	64	10	SNP	0.757	C	C	72981315	G	C	72981315	3	2	143	1	0	0	0	0	1	0	0	0	16625	1281	45	5	3072	5	TRPA1	8	72981315	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	5563641	72981315	73382707	98	36274											
TRPS1	7227	genome.wustl.edu	37	chr8	116632015	116632015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagtttcctcccttactggGgctttcataattgaagccag	10	13	8	10	0	1	1	1	1	0	0	3	1	3	1	3	2	2	2	3	2	4	5	rs200964070	byFrequency	TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr8:116632015G>T	ENST00000220888.5	-	2	430	c.271C>A	c.(271-273)Ccc>Acc	p.P91T	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.P95T|TRPS1_ENST00000519674.1_Missense_Mutation_p.P91T|TRPS1_ENST00000395715.3_Missense_Mutation_p.P104T			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	91					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)			CCCTTACTGGGGCTTTCATAA	0.483									Langer-Giedion syndrome																																								0													91	85	87					8																	116632015		1916	4142	6058	SO:0001583	missense	0	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.271C>A	8.37:g.116632015G>T	ENSP00000220888:p.Pro91Thr		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.P104T	ENST00000220888.5	37	c.310		8	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855732	0.32791	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815	D;D;D;T	0.98419	-4.92;-4.9;-4.9;0.91	5.82	3.1	0.35709	.	0.252817	0.33346	N	0.005013	D	0.92967	0.7762	N	0.08118	0	0.35798	D	0.82292	B;B;B	0.29085	0.232;0.149;0.232	B;B;B	0.29353	0.101;0.047;0.063	D	0.89745	0.3936	10	0.20046	T	0.44	-1.5836	11.2559	0.49054	0.1971:0.0:0.8029:0.0	.	95;91;104	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	T	104;91;95;91;104;104	ENSP00000379065:P104T;ENSP00000220888:P91T;ENSP00000428680:P95T;ENSP00000429174:P91T	ENSP00000220888:P91T	P	-	1	0	TRPS1	116701190	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.348000	0.59379	0.399000	0.25367	0.650000	0.86243	CCC	TRPS1	-	NULL	ENSG00000104447		0.483	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3		0	39	0	G	NM_014112		116632015	-1			no_errors	ENST00000395715	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	116632015	G	T	116632015	3	4	143	1	0	0	0	0	1	0	0	0	16641	1232	43	3	3594	3	TRPS1	8	116632015	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	43650700	116632015	29732007	99	36275											
TG	7038	genome.wustl.edu	37	chr8	133895118	133895118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctttggtcacccctatgttCcaagctgccgccgaaatggc	7	10	10	14	2	1	0	1	0	0	0	2	1	2	0	5	2	2	3	5	2	3	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr8:133895118C>A	ENST00000220616.4	+	8	989	c.949C>A	c.(949-951)Cca>Aca	p.P317T	TG_ENST00000377869.1_Missense_Mutation_p.P317T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	317	Thyroglobulin type-1 4. {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)		CCCCTATGTTCCAAGCTGCCG	0.552																																																	0													59	58	58					8																	133895118		2203	4300	6503	SO:0001583	missense	0			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.949C>A	8.37:g.133895118C>A	ENSP00000220616:p.Pro317Thr		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.P317T	ENST00000220616.4	37	c.949	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329942	0.81690	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.89343	-2.5;-2.5	5.49	5.49	0.81192	Thyroglobulin type-1 (6);	0.000000	0.64402	D	0.000009	D	0.96904	0.8989	H	0.98089	4.145	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	D	0.98308	1.0522	10	0.87932	D	0	.	18.3504	0.90336	0.0:1.0:0.0:0.0	.	317	P01266	THYG_HUMAN	T	317	ENSP00000367100:P317T;ENSP00000220616:P317T	ENSP00000220616:P317T	P	+	1	0	TG	133964300	1.000000	0.71417	0.147000	0.22382	0.612000	0.37316	5.284000	0.65627	2.570000	0.86706	0.563000	0.77884	CCA	TG	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	ENSG00000042832		0.552	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	74	0	C	NM_003235		133895118	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.997	A	A	133895118	C	A	133895118	3	1	143	1	0	0	0	0	1	0	0	0	15860	855	30	3	979	3	TG	8	133895118	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	17263103	133895118	12468904	100	36276											
FAM154A	158297	genome.wustl.edu	37	chr9	18928632	18928632	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaacatccggggcattggCcaagcttggtacttatctcg	9	10	12	10	2	1	1	0	0	1	1	3	2	2	1	2	4	3	3	2	4	4	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr9:18928632C>A	ENST00000380534.4	-	4	1122	c.843G>T	c.(841-843)tgG>tgT	p.W281C	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.W89C	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	281										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)		GGGGCATTGGCCAAGCTTGGT	0.542																																																	0													110	107	108					9																	18928632		2203	4300	6503	SO:0001583	missense	0			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.843G>T	9.37:g.18928632C>A	ENSP00000369907:p.Trp281Cys		Q5VY58	Missense_Mutation	SNP	NULL	p.W281C	ENST00000380534.4	37	c.843	CCDS6487.1	9	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620945	0.66787	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.19394	2.15;2.15	5.09	5.09	0.68999	.	0.000000	0.53938	D	0.000060	T	0.49355	0.1552	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44802	-0.9304	10	0.38643	T	0.18	-12.1837	17.2336	0.86991	0.0:1.0:0.0:0.0	.	281	Q8IYX7	F154A_HUMAN	C	281;89	ENSP00000369907:W281C;ENSP00000438823:W89C	ENSP00000369907:W281C	W	-	3	0	FAM154A	18918632	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.678000	0.54627	2.640000	0.89533	0.650000	0.86243	TGG	FAM154A	-	NULL	ENSG00000155875		0.542	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM154A	HGNC	protein_coding	OTTHUMT00000051811.1	-	0	69	0	C	NM_153707		18928632	-1	tier1	-	no_errors	ENST00000380534	ensembl	human	known	74_37	missense	23.33	45	14	SNP	1.000	A	A	18928632	C	A	18928632	3	1	143	1	0	0	0	0	1	0	0	0	5482	740	26	3	585	3	FAM154A	9	18928632	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09		18928632	122284799	101	36277											
ANKRD20A1	84210	genome.wustl.edu	37	chr9	67968379	67968379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttctgtacaagtagaaatGagttctgctatttccaaagt	12	15	8	6	0	2	2	0	1	2	1	3	2	3	2	1	0	2	5	1	0	6	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr9:67968379G>A	ENST00000377477.2	+	15	2050	c.1938G>A	c.(1936-1938)atG>atA	p.M646I	RP11-195B21.3_ENST00000417488.1_5'Flank	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	646						plasma membrane (GO:0005886)		p.M646I(1)		kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AAGTAGAAATGAGTTCTGCTA	0.343																																																	1	Substitution - Missense(1)	lung(1)											84	78	80					9																	67968379		2202	4292	6494	SO:0001583	missense	0			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.1938G>A	9.37:g.67968379G>A	ENSP00000366697:p.Met646Ile		Q9H0H6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M646I	ENST00000377477.2	37	c.1938	CCDS6620.1	9	.	.	.	.	.	.	.	.	.	.	.	0.670	-0.802394	0.02841	.	.	ENSG00000196774	ENST00000377477	T	0.15603	2.41	1.88	0.916	0.19373	.	.	.	.	.	T	0.12518	0.0304	L	0.55990	1.75	0.19575	N	0.999969	B	0.32409	0.37	B	0.17098	0.017	T	0.26224	-1.0109	9	0.62326	D	0.03	.	3.5063	0.07692	0.4091:0.0:0.5909:0.0	.	646	Q5TYW2	A20A1_HUMAN	I	646	ENSP00000366697:M646I	ENSP00000366697:M646I	M	+	3	0	ANKRD20A1	67558199	0.988000	0.35896	0.073000	0.20177	0.004000	0.04260	0.573000	0.23699	1.071000	0.40834	0.109000	0.15622	ATG	ANKRD20A1	-	NULL	ENSG00000196774		0.343	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A1	HGNC	protein_coding	OTTHUMT00000083800.1	-	0	120	0	G			67968379	1	tier1	-	no_errors	ENST00000377477	ensembl	human	known	74_37	missense	14.04	202	33	SNP	0.846	A	A	67968379	G	A	67968379	3	1	143	1	0	0	0	0	1	0	0	0	648	1290	45	3	1996	3	ANKRD20A1	9	67968379	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	49039747	67968379	73245052	102	36278											
PRUNE2	158471	genome.wustl.edu	37	chr9	79465525	79465525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtctcggtgaagtagttGaattcagttcttggtatgtt	7	17	11	6	2	3	2	1	2	2	0	5	2	3	2	0	2	0	5	0	2	4	7			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr9:79465525G>T	ENST00000376718.3	-	3	321	c.198C>A	c.(196-198)ttC>ttA	p.F66L	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.F66L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	66					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						TGAAGTAGTTGAATTCAGTTC	0.398																																																	0													140	146	144					9																	79465525		2203	4300	6503	SO:0001583	missense	0			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.198C>A	9.37:g.79465525G>T	ENSP00000365908:p.Phe66Leu		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.F66L	ENST00000376718.3	37	c.198	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218339	0.58560	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T	0.39787	1.06	5.78	4.88	0.63580	.	0.064903	0.64402	D	0.000007	T	0.48804	0.1520	L	0.38953	1.18	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.97	T	0.29336	-1.0015	10	0.02654	T	1	.	15.1162	0.72404	0.0686:0.0:0.9314:0.0	.	66;66	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	L	66;65;66	ENSP00000365908:F66L	ENSP00000365903:F66L	F	-	3	2	PRUNE2	78655345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.992000	0.40737	2.730000	0.93505	0.650000	0.86243	TTC	PRUNE2	-	NULL	ENSG00000106772		0.398	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	-	0	56	0	G	NM_138818		79465525	-1	tier1	-	no_errors	ENST00000376718	ensembl	human	novel	74_37	missense	5.88	64	4	SNP	1.000	T	T	79465525	G	T	79465525	3	4	143	1	0	0	0	0	1	0	0	0	12683	1281	45	3	9136	3	PRUNE2	9	79465525	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	11497146	79465525	61747906	103	36279											
GNAQ	2776	genome.wustl.edu	37	chr9	80409502	80409502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctttggccccctacatcGaccattctgcaaggttaaca	10	10	7	14	1	1	0	0	0	1	0	2	2	1	0	4	2	3	2	4	2	3	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr9:80409502G>A	ENST00000286548.4	-	5	834	c.612C>T	c.(610-612)gtC>gtT	p.V204V	GNAQ_ENST00000397476.3_Silent_p.V2V	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	204					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.V204V(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CCCCTACATCGACCATTCTGC	0.333			Mis		uveal melanoma																																			Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	1	Substitution - coding silent(1)	endometrium(1)											88	87	87					9																	80409502		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.612C>T	9.37:g.80409502G>A			O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha	p.V204	ENST00000286548.4	37	c.612	CCDS6658.1	9																																																																																			GNAQ	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000156052		0.333	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAQ	HGNC	protein_coding	OTTHUMT00000052761.1		0	17	0	G	NM_002072		80409502	-1			no_errors	ENST00000286548	ensembl	human	known	74_37	silent	6.06	30	2	SNP	1.000	A	A	80409502	G	A	80409502	2	1	143	1	0	0	0	0	0	0	0	1	6535	1045	37	1		1	GNAQ	9	80409502	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	943977	80409502	60803929	104	36280											
PHYHD1	254295	genome.wustl.edu	37	chr9	131702926	131702926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgttggctcagcgcctgGtaccagcttccttgggtcag	4	11	12	14	1	2	0	2	0	0	0	3	0	3	0	4	3	3	4	4	3	1	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr9:131702926G>T	ENST00000372592.3	+	11	1568	c.635G>T	c.(634-636)gGt>gTt	p.G212V	RP11-101E3.5_ENST00000482796.1_5'Flank|PHYHD1_ENST00000487504.1_3'UTR|PHYHD1_ENST00000421063.2_Missense_Mutation_p.G191V|PHYHD1_ENST00000353176.5_Missense_Mutation_p.G191V|PHYHD1_ENST00000308941.5_Missense_Mutation_p.V205L	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	212							dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						TCAGCGCCTGGTACCAGCTTC	0.607																																																	0													78	71	73					9																	131702926		2203	4300	6503	SO:0001583	missense	0			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.635G>T	9.37:g.131702926G>T	ENSP00000361673:p.Gly212Val		A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Missense_Mutation	SNP	pfam_Phytyl_CoA_dOase	p.V205L	ENST00000372592.3	37	c.613	CCDS43885.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.322|1.322	-0.599194|-0.599194	0.03744|0.03744	.|.	.|.	ENSG00000175287|ENSG00000175287	ENST00000372592;ENST00000353176;ENST00000421063|ENST00000308941	D;D;D|.	0.89746|.	-2.56;-2.56;-2.56|.	4.6|4.6	2.74|2.74	0.32292|0.32292	.|.	.|.	.|.	.|.	.|.	T|T	0.17323|0.17323	0.0416|0.0416	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	B;B|B	0.25351|0.09022	0.014;0.124|0.002	B;B|B	0.21708|0.10450	0.009;0.036|0.005	T|T	0.32851|0.32851	-0.9891|-0.9891	8|7	0.12766|0.10377	T|T	0.61|0.69	-3.3126|-3.3126	6.4725|6.4725	0.22015|0.22015	0.0849:0.0:0.5939:0.3212|0.0849:0.0:0.5939:0.3212	.|.	191;212|205	Q5SRE7-2;Q5SRE7|Q5SRE7-3	.;PHYD1_HUMAN|.	V|L	212;191;191|205	ENSP00000361673:G212V;ENSP00000340945:G191V;ENSP00000409928:G191V|.	ENSP00000340945:G191V|ENSP00000309515:V205L	G|V	+|+	2|1	0|0	PHYHD1|PHYHD1	130742747|130742747	0.516000|0.516000	0.26218|0.26218	0.110000|0.110000	0.21437|0.21437	0.019000|0.019000	0.09904|0.09904	1.792000|1.792000	0.38754|0.38754	0.383000|0.383000	0.24910|0.24910	0.555000|0.555000	0.69702|0.69702	GGT|GTA	PHYHD1	-	NULL	ENSG00000175287		0.607	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYHD1	HGNC	protein_coding	OTTHUMT00000054506.2	-	0	76	0	G	NM_174933		131702926	1	tier1	-	no_errors	ENST00000308941	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.001	T	T	131702926	G	T	131702926	3	4	143	1	0	0	0	0	1	0	0	0	11904	1261	44	3	669	3	PHYHD1	9	131702926	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	51293424	131702926	9510505	105	36281											
FCN1	2219	genome.wustl.edu	37	chr9	137801649	137801649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggggtcctggcccgtctaggCgggccgcaccttcatctctg	3	9	14	15	3	3	0	1	0	2	0	5	0	4	0	4	5	0	1	4	5	1	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr9:137801649C>T	ENST00000371806.3	-	9	1067	c.976G>A	c.(976-978)Gcc>Acc	p.A326T		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	326	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.|P domain.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.A326T(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCCGTCTAGGCGGGCCGCACC	0.597																																																	1	Substitution - Missense(1)	endometrium(1)											59	61	60					9																	137801649		2203	4300	6503	SO:0001583	missense	0			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.976G>A	9.37:g.137801649C>T	ENSP00000360871:p.Ala326Thr		Q5VYV5|Q92596	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.A326T	ENST00000371806.3	37	c.976	CCDS6985.1	9	.	.	.	.	.	.	.	.	.	.	C	8.112	0.779109	0.16120	.	.	ENSG00000085265	ENST00000371806	D	0.84873	-1.91	3.13	-3.57	0.04612	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);	.	.	.	.	T	0.63283	0.2498	N	0.04245	-0.25	0.09310	N	1	B	0.22346	0.068	B	0.15052	0.012	T	0.48917	-0.8992	9	0.33141	T	0.24	.	6.3362	0.21296	0.0:0.5338:0.1717:0.2945	.	326	O00602	FCN1_HUMAN	T	326	ENSP00000360871:A326T	ENSP00000360871:A326T	A	-	1	0	FCN1	136941470	0.000000	0.05858	0.005000	0.12908	0.308000	0.27856	-0.449000	0.06812	-0.902000	0.03886	-0.492000	0.04666	GCC	FCN1	-	superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000085265		0.597	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN1	HGNC	protein_coding	OTTHUMT00000054963.1	-	0	39	0	C	NM_002003		137801649	-1	tier1	-	no_errors	ENST00000371806	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.113	T	T	137801649	C	T	137801649	3	4	143	1	0	0	0	0	1	0	0	0	5813	768	27	1	8	1	FCN1	9	137801649	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	6098723	137801649	3411782	106	36282											
IDI1	3422	genome.wustl.edu	37	chr10	1089949	1089949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagcacctttctcaatGttctcgttcaggtgacaatt	11	13	7	10	1	3	1	2	1	2	0	5	1	3	1	1	1	2	4	1	1	3	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr10:1089949G>T	ENST00000381344.3	-	2	469	c.303C>A	c.(301-303)aaC>aaA	p.N101K	RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI1_ENST00000491735.1_Intron|IDI2-AS1_ENST00000437374.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	44	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.			A -> T (in Ref. 8; AAH19227). {ECO:0000305}.	cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		CTTTCTCAATGTTCTCGTTCA	0.413																																																	0													157	144	149					10																	1089949		2203	4300	6503	SO:0001583	missense	0			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"IPP isomerase"	604055	"isopentenyl-diphosphate delta isomerase"			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.303C>A	10.37:g.1089949G>T	ENSP00000370748:p.Asn101Lys		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.N101K	ENST00000381344.3	37	c.303	CCDS7056.1	10	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492607	0.44352	.	.	ENSG00000067064	ENST00000381344;ENST00000429642	.	.	.	4.49	2.58	0.30949	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	L	0.46614	1.455	0.58432	D	0.999999	P	0.39737	0.685	B	0.33890	0.172	T	0.31052	-0.9957	9	0.49607	T	0.09	-25.4578	8.7956	0.34876	0.2478:0.0:0.7522:0.0	.	101	Q13907-2	.	K	101;44	.	ENSP00000370748:N101K	N	-	3	2	IDI1	1079949	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.850000	0.48294	0.984000	0.38629	0.591000	0.81541	AAC	IDI1	-	superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	ENSG00000067064		0.413	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI1	HGNC	protein_coding	OTTHUMT00000046409.2	-	0	44	0	G	NM_004508		1089949	-1	tier1	-	no_errors	ENST00000381344	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	1089949	G	T	1089949	3	4	143	1	0	0	0	0	1	0	0	0	7526	1368	48	3	567	3	IDI1	10	1089949	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09		1089949	134444798	107	36283											
TAF3	83860	genome.wustl.edu	37	chr10	8005922	8005922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccactgatggaggcacatCagcagaagccatgcaggttc	11	6	12	12	0	1	2	1	1	0	1	2	3	1	3	2	3	3	4	2	3	1	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr10:8005922C>T	ENST00000344293.5	+	3	655	c.449C>T	c.(448-450)tCa>tTa	p.S150L		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	150					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						GGAGGCACATCAGCAGAAGCC	0.398																																																	0													48	46	47					10																	8005922		1847	4100	5947	SO:0001583	missense	0			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.449C>T	10.37:g.8005922C>T	ENSP00000340271:p.Ser150Leu		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S150L	ENST00000344293.5	37	c.449	CCDS41487.1	10	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219257	0.79464	.	.	ENSG00000165632	ENST00000344293;ENST00000542889	T	0.21191	2.02	5.57	5.57	0.84162	.	0.000000	0.56097	D	0.000025	T	0.49508	0.1561	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.36261	-0.9755	10	0.33141	T	0.24	-14.7954	19.5521	0.95324	0.0:1.0:0.0:0.0	.	150	Q5VWG9	TAF3_HUMAN	L	150	ENSP00000340271:S150L	ENSP00000340271:S150L	S	+	2	0	TAF3	8045928	1.000000	0.71417	0.941000	0.38009	0.958000	0.62258	7.487000	0.81328	2.639000	0.89480	0.655000	0.94253	TCA	TAF3	-	NULL	ENSG00000165632		0.398	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	-	0	28	0	C	NM_031923		8005922	1	tier1	-	no_errors	ENST00000344293	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	T	T	8005922	C	T	8005922	3	4	143	1	0	0	0	0	1	0	0	0	15572	838	29	3	459	3	TAF3	10	8005922	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	6915973	8005922	127528825	108	36284											
CUBN	8029	genome.wustl.edu	37	chr10	17156080	17156080	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	agtgttgaaacactgcacaaGtgtggagcaaggcccgggct	11	7	14	9	1	0	1	0	1	0	0	0	2	0	2	1	3	3	4	1	3	3	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr10:17156080G>C	ENST00000377833.4	-	8	894	c.829C>G	c.(829-831)Ctt>Gtt	p.L277V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	277	EGF-like 3; 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)	CACTGCACAAGTGTGGAGCAA	0.587																																																	0													70	52	58					10																	17156080		2203	4300	6503	SO:0001583	missense	0			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.829C>G	10.37:g.17156080G>C	ENSP00000367064:p.Leu277Val		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.L277V	ENST00000377833.4	37	c.829	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420109	0.25552	.	.	ENSG00000107611	ENST00000377833	D	0.91945	-2.94	5.64	4.72	0.59763	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.757763	0.10766	N	0.636603	D	0.89469	0.6724	L	0.31926	0.97	0.32812	D	0.501627	P	0.44521	0.837	B	0.43331	0.416	D	0.89033	0.3443	10	0.41790	T	0.15	.	15.491	0.75605	0.0697:0.0:0.9303:0.0	.	277	O60494	CUBN_HUMAN	V	277	ENSP00000367064:L277V	ENSP00000367064:L277V	L	-	1	0	CUBN	17196086	0.715000	0.27946	0.148000	0.22405	0.130000	0.20726	4.060000	0.57477	2.816000	0.96949	0.563000	0.77884	CTT	CUBN	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000107611		0.587	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0	59	0	G	NM_001081		17156080	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.170	C	C	17156080	G	C	17156080	3	2	143	1	0	0	0	0	1	0	0	0	4060	1029	36	5	10282	5	CUBN	10	17156080	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	9150158	17156080	118378667	109	36285											
NSUN6	221078	genome.wustl.edu	37	chr10	18835047	18835047	+	Missense_Mutation	SNP	T	T	C	0	1	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	acatgagagcccagctccccTcattccttctcctccaatct	8	11	4	18	0	3	1	1	1	2	1	7	2	6	1	6	0	2	1	6	0	1	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr10:18835047T>C	ENST00000377304.4	-	11	1643	c.1225A>G	c.(1225-1227)Agg>Ggg	p.R409G	RP11-499P20.2_ENST00000436485.1_RNA|RP11-499P20.2_ENST00000425669.1_RNA|NSUN6_ENST00000493816.1_5'UTR	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	409							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.R409W(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						CCAGCTCCCCTCATTCCTTCT	0.463																																																	1	Substitution - Missense(1)	lung(1)											152	149	150					10																	18835047		2203	4300	6503	SO:0001583	missense	0			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.1225A>G	10.37:g.18835047T>C	ENSP00000366519:p.Arg409Gly		B0YJ54	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT	p.R409G	ENST00000377304.4	37	c.1225	CCDS7130.1	10	.	.	.	.	.	.	.	.	.	.	T	13.93	2.385178	0.42308	.	.	ENSG00000241058	ENST00000377304	T	0.23950	1.88	5.5	-9.27	0.00659	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	1.027660	0.07621	N	0.927031	T	0.08358	0.0208	N	0.05124	-0.11	0.26044	N	0.981579	B	0.09022	0.002	B	0.09377	0.004	T	0.29150	-1.0021	10	0.22706	T	0.39	.	5.7691	0.18243	0.0967:0.2292:0.5213:0.1528	.	409	Q8TEA1	NSUN6_HUMAN	G	409	ENSP00000366519:R409G	ENSP00000366519:R409G	R	-	1	2	NSUN6	18875053	0.112000	0.22096	0.801000	0.32222	0.833000	0.47200	-0.872000	0.04219	-1.430000	0.01985	-0.316000	0.08728	AGG	NSUN6	-	pfam_Fmu/NOL1/Nop2p	ENSG00000241058		0.463	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	HGNC	protein_coding	OTTHUMT00000047083.1		0	34	0	T	NM_182543		18835047	-1			no_errors	ENST00000377304	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.481	C	C	18835047	T	C	18835047	3	2	143	1	0	0	0	0	1	0	0	0	10721	1550	54	4	188	4	NSUN6	10	18835047	Missense_Mutation	SNP	T	TCGA-R6-A6L6-01B-11D-A33E-09	1678967	18835047	116699700	110	36286											
EIF4EBP2	1979	genome.wustl.edu	37	chr10	72179687	72179687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaactcgaatcatttatGacagaaagtttctgttggat	13	13	9	6	1	2	2	1	1	1	1	3	5	2	4	0	2	1	2	0	2	4	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr10:72179687G>T	ENST00000373218.4	+	2	186	c.163G>T	c.(163-165)Gac>Tac	p.D55Y		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	55					cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412)					large_intestine(1)	1						AATCATTTATGACAGAAAGTT	0.428																																																	0													100	102	101					10																	72179687		2203	4300	6503	SO:0001583	missense	0				CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730			3289	protein-coding gene	gene with protein product		602224				7935836, 8975712	Standard	NM_004096		Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.163G>T	10.37:g.72179687G>T	ENSP00000362314:p.Asp55Tyr			Missense_Mutation	SNP	pfam_EIF4EBP	p.D55Y	ENST00000373218.4	37	c.163	CCDS7303.1	10	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662647	0.88251	.	.	ENSG00000148730	ENST00000373218	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	M	0.84219	2.685	0.80722	D	1	D	0.57899	0.981	P	0.54815	0.761	T	0.80185	-0.1487	9	0.62326	D	0.03	-13.1135	18.6601	0.91469	0.0:0.0:1.0:0.0	.	55	Q13542	4EBP2_HUMAN	Y	55	.	ENSP00000362314:D55Y	D	+	1	0	EIF4EBP2	71849693	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.117000	0.94347	2.781000	0.95711	0.650000	0.86243	GAC	EIF4EBP2	-	pfam_EIF4EBP	ENSG00000148730		0.428	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4EBP2	HGNC	protein_coding	OTTHUMT00000048513.1		0	40	0	G	NM_004096		72179687	1			no_errors	ENST00000373218	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	72179687	G	T	72179687	3	4	143	1	0	0	0	0	1	0	0	0	5049	1290	45	3	169	3	EIF4EBP2	10	72179687	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	53344640	72179687	63355060	111	36287											
CYP2C9	1559	genome.wustl.edu	37	chr10	96698578	96698578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatatcctacagataggtAttaaggacatcagcaaatcc	17	9	7	8	0	1	1	1	0	0	1	3	3	3	2	2	2	2	2	2	2	7	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr10:96698578A>G	ENST00000260682.6	+	1	151	c.139A>G	c.(139-141)Att>Gtt	p.I47V	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	47					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)	ACAGATAGGTATTAAGGACAT	0.423																																					Ovarian(54;1266 1406 16072 35076)												0													112	112	112					10																	96698578		2203	4300	6503	SO:0001583	missense	0			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.139A>G	10.37:g.96698578A>G	ENSP00000260682:p.Ile47Val		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.I47V	ENST00000260682.6	37	c.139	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	1.949	-0.441641	0.04604	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.67523	-0.27	3.7	-4.96	0.03038	.	0.493390	0.17640	U	0.167049	T	0.25232	0.0613	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31668	-0.9935	10	0.12430	T	0.62	.	2.2219	0.03974	0.5308:0.1403:0.1879:0.1411	.	47;47;47	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	V	47	ENSP00000260682:I47V	ENSP00000260682:I47V	I	+	1	0	CYP2C9	96688568	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.811000	0.01728	-0.864000	0.04078	0.402000	0.26972	ATT	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000138109		0.423	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	-	0	52	0	A	NM_000771		96698578	1	tier1	-	no_errors	ENST00000260682	ensembl	human	known	74_37	missense	15.07	62	11	SNP	0.000	G	G	96698578	A	G	96698578	3	3	143	1	0	0	0	0	1	0	0	0	4177	449	16	4	141	4	CYP2C9	10	96698578	Missense_Mutation	SNP	A	TCGA-R6-A6L6-01B-11D-A33E-09	24518891	96698578	38836169	112	36288											
SMC3	9126	genome.wustl.edu	37	chr10	112341689	112341689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcttttaagagggcaaaCgggaaaaaatcaatgagttg	16	11	10	4	1	2	2	1	1	1	1	2	3	2	3	0	2	1	2	0	2	6	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr10:112341689C>T	ENST00000361804.4	+	9	682	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	186					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGAGGGCAAACGGGAAAAAAT	0.299																																																	0													58	65	63					10																	112341689		2203	4300	6503	SO:0001583	missense	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.556C>T	10.37:g.112341689C>T	ENSP00000354720:p.Arg186Trp		A8K156|O60464|Q5T482	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.R186W	ENST00000361804.4	37	c.556	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058394	0.76074	.	.	ENSG00000108055	ENST00000361804	T	0.76448	-1.02	5.51	4.6	0.57074	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.88227	0.2901	10	0.52906	T	0.07	.	14.8326	0.70159	0.2605:0.7395:0.0:0.0	.	186	Q9UQE7	SMC3_HUMAN	W	186	ENSP00000354720:R186W	ENSP00000354720:R186W	R	+	1	2	SMC3	112331679	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.682000	0.37628	1.298000	0.44778	0.591000	0.81541	CGG	SMC3	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000108055		0.299	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	HGNC	protein_coding	OTTHUMT00000050337.1	-	0	39	0	C	NM_005445		112341689	1	tier1	-	no_errors	ENST00000361804	ensembl	human	known	74_37	missense	13.48	77	12	SNP	1.000	T	T	112341689	C	T	112341689	3	4	143	1	0	0	0	0	1	0	0	0	14829	527	19	1	590	1	SMC3	10	112341689	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	15643111	112341689	23193058	113	36289											
FANK1	92565	genome.wustl.edu	37	chr10	127693499	127693499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctagatgttgtgaaatatCtccgaagacatggcgcttct	11	12	9	9	2	2	3	0	1	2	2	3	4	2	3	2	1	0	2	2	1	4	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr10:127693499C>T	ENST00000368693.1	+	7	690	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Missense_Mutation_p.L190F			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	196						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TGTGAAATATCTCCGAAGACA	0.517																																																	0													172	163	166					10																	127693499		2203	4300	6503	SO:0001583	missense	0			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.586C>T	10.37:g.127693499C>T	ENSP00000357682:p.Leu196Phe		Q6UXY9|Q6X7T6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt	p.L196F	ENST00000368693.1	37	c.586	CCDS31309.1	10	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940403	0.73557	.	.	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692	T;T;T	0.80393	-1.37;-1.37;-1.37	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000013	D	0.90741	0.7094	M	0.90483	3.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	D	0.91689	0.5364	10	0.66056	D	0.02	-21.3551	12.1794	0.54204	0.0:0.9213:0.0:0.0787	.	222;196;196	Q8TC84-3;Q8TC84-2;Q8TC84	.;.;FANK1_HUMAN	F	190;196;174;222	ENSP00000357684:L190F;ENSP00000357682:L196F;ENSP00000357680:L174F	ENSP00000357680:L174F	L	+	1	0	FANK1	127683489	0.997000	0.39634	0.970000	0.41538	0.687000	0.40016	3.593000	0.54001	2.733000	0.93635	0.655000	0.94253	CTC	FANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000203780		0.517	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FANK1	HGNC	protein_coding		-	0	79	0	C	NM_145235		127693499	1	tier1	-	no_errors	ENST00000368693	ensembl	human	known	74_37	missense	17.39	57	12	SNP	0.994	T	T	127693499	C	T	127693499	3	4	143	1	0	0	0	0	1	0	0	0	5694	913	32	3	612	3	FANK1	10	127693499	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	15351810	127693499	7841248	114	36290											
CTSD	1509	genome.wustl.edu	37	chr11	1780814	1780814	+	Missense_Mutation	SNP	A	A	C	1	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	tggaggagcccgtgtcgaagAcgactgtgaagcactggggg	9	6	18	8	3	0	2	0	1	0	1	1	6	0	4	1	4	2	1	1	4	2	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:1780814A>C	ENST00000236671.2	-	3	416	c.284T>G	c.(283-285)gTc>gGc	p.V95G	AC068580.6_ENST00000449248.1_RNA|RP11-295K3.1_ENST00000427721.1_5'Flank	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	95					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)"	CGTGTCGAAGACGACTGTGAA	0.657																																																	0													64	63	63					11																	1780814		2202	4299	6501	SO:0001583	missense	0			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.284T>G	11.37:g.1780814A>C	ENSP00000236671:p.Val95Gly		Q6IB57	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.V95G	ENST00000236671.2	37	c.284	CCDS7725.1	11	.	.	.	.	.	.	.	.	.	.	a	19.92	3.915533	0.73098	.	.	ENSG00000117984	ENST00000236671;ENST00000438213;ENST00000367196	T;T;T	0.60548	0.18;0.18;0.18	4.2	3.06	0.35304	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.208574	0.39985	N	0.001211	D	0.82572	0.5066	H	0.98370	4.215	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.86021	0.1507	10	0.87932	D	0	.	9.1828	0.37152	0.9121:0.0:0.0879:0.0	.	95	P07339	CATD_HUMAN	G	95;80;60	ENSP00000236671:V95G;ENSP00000415036:V80G;ENSP00000356164:V60G	ENSP00000236671:V95G	V	-	2	0	CTSD	1737390	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	4.567000	0.60850	1.676000	0.50930	0.398000	0.26397	GTC	CTSD	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	ENSG00000117984		0.657	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSD	HGNC	protein_coding	OTTHUMT00000104272.5	-	0	166	0	A	NM_001909		1780814	-1	tier1	-	no_errors	ENST00000236671	ensembl	human	known	74_37	missense	13.10	126	19	SNP	1.000	C	C	1780814	A	C	1780814	3	2	143	1	0	0	0	0	1	0	0	0	4041	275	10	4	982	4	CTSD	11	1780814	Missense_Mutation	SNP	A	TCGA-R6-A6L6-01B-11D-A33E-09		1780814	133225702	115	36291											
NELL1	4745	genome.wustl.edu	37	chr11	20907087	20907087	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagcatggcttattcaaaGtaagcactaacgttcttttt	14	14	6	7	1	2	0	1	0	1	0	2	0	2	0	0	1	3	5	0	1	6	7			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:20907087G>T	ENST00000357134.5	+	5	755		c.e5+1		NELL1_ENST00000298925.5_Splice_Site|NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000532434.1_Splice_Site	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTTATTCAAAGTAAGCACTAA	0.403																																																	0													72	66	68					11																	20907087		2203	4300	6503	SO:0001630	splice_region_variant	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.603+1G>T	11.37:g.20907087G>T			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Splice_Site	SNP	-	e5+1	ENST00000357134.5	37	c.603+1	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281141	0.80692	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8059	0.92037	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NELL1	20863663	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.783000	0.85696	2.526000	0.85167	0.591000	0.81541	.	NELL1	-	-	ENSG00000165973		0.403	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1		0	37	0	G	NM_006157	Intron	20907087	1			no_errors	ENST00000357134	ensembl	human	known	74_37	splice_site	5.00	38	2	SNP	1.000	T	T	20907087	G	T	20907087	5	4	143	1	0	0	0	0	0	0	1	0	10372	1043	36	3	622	3	NELL1	11	20907087	Splice_Site	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	19126273	20907087	114099429	116	36292											
CAPRIN1	4076	genome.wustl.edu	37	chr11	34093524	34093524	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagaggagtttcatggcacTaagtcaagatgtaagtaaaa	17	9	10	5	0	2	2	2	0	0	2	2	3	2	3	0	2	0	4	0	2	5	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:34093524T>C	ENST00000341394.4	+	4	545	c.356T>C	c.(355-357)cTa>cCa	p.L119P	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.L119P|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.L119P|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.L38P|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.L119P	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	119					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)				TTCATGGCACTAAGTCAAGAT	0.333																																																	0													61	64	63					11																	34093524		2202	4298	6500	SO:0001583	missense	0			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.356T>C	11.37:g.34093524T>C	ENSP00000340329:p.Leu119Pro		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	pfam_Caprin-1_C	p.L119P	ENST00000341394.4	37	c.356	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186531	0.78789	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000534825;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58901	-0.7554	10	0.87932	D	0	-3.9003	15.6424	0.77016	0.0:0.0:0.0:1.0	.	119;119	Q14444;Q14444-2	CAPR1_HUMAN;.	P	119;119;119;119;119;38	ENSP00000340329:L119P;ENSP00000374296:L119P;ENSP00000431373:L119P;ENSP00000434150:L119P;ENSP00000434204:L119P;ENSP00000431581:L38P	ENSP00000340329:L119P	L	+	2	0	CAPRIN1	34050100	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.621000	0.83083	2.084000	0.62774	0.460000	0.39030	CTA	CAPRIN1	-	NULL	ENSG00000135387		0.333	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	-	0	71	0	T	NM_005898		34093524	1	tier1	-	no_errors	ENST00000341394	ensembl	human	known	74_37	missense	12.86	122	18	SNP	1.000	C	C	34093524	T	C	34093524	3	2	143	1	0	0	0	0	1	0	0	0	2642	1522	53	4	366	4	CAPRIN1	11	34093524	Missense_Mutation	SNP	T	TCGA-R6-A6L6-01B-11D-A33E-09	13186437	34093524	100912992	117	36293											
OR4A5	81318	genome.wustl.edu	37	chr11	51411621	51411621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagtaggaaagtttgaaaCaggtctaacatatatgaaaa	19	10	8	4	0	2	2	1	2	1	0	2	3	2	3	0	2	2	2	0	2	8	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:51411621C>A	ENST00000319760.6	-	1	827	c.775G>T	c.(775-777)Gtt>Ttt	p.V259F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	259						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)				AAGTTTGAAACAGGTCTAACA	0.393																																																	0													51	51	51					11																	51411621		2201	4296	6497	SO:0001583	missense	0			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.775G>T	11.37:g.51411621C>A	ENSP00000367664:p.Val259Phe		Q6IF84	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V259F	ENST00000319760.6	37	c.775	CCDS31497.1	11	.	.	.	.	.	.	.	.	.	.	.	4.309	0.056661	0.08291	.	.	ENSG00000221840	ENST00000319760	T	0.00107	8.72	2.2	0.053	0.14305	GPCR, rhodopsin-like superfamily (1);	1.428610	0.05236	N	0.511237	T	0.00210	0.0006	N	0.20445	0.575	0.09310	N	1	D	0.52996	0.957	D	0.64687	0.928	T	0.49716	-0.8910	10	0.27785	T	0.31	.	5.2396	0.15464	0.0:0.5253:0.0:0.4747	.	259	Q8NH83	OR4A5_HUMAN	F	259	ENSP00000367664:V259F	ENSP00000367664:V259F	V	-	1	0	OR4A5	51268197	0.000000	0.05858	0.131000	0.22000	0.056000	0.15407	-1.344000	0.02639	0.028000	0.15324	0.162000	0.16502	GTT	OR4A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221840		0.393	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1	-	0	61	0	C	NM_001005272		51411621	-1	tier1	-	no_errors	ENST00000319760	ensembl	human	known	74_37	missense	11.11	56	7	SNP	0.159	A	A	51411621	C	A	51411621	3	1	143	1	0	0	0	0	1	0	0	0	11082	478	17	3	176	3	OR4A5	11	51411621	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	17318097	51411621	83594895	118	36294											
PRG2	5553	genome.wustl.edu	37	chr11	57157401	57157401	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccaaatagaagagccagaAgtaaggggagtttcatcttg	14	8	11	8	0	2	3	1	0	1	3	2	4	2	4	3	2	1	2	3	2	5	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:57157401A>C	ENST00000311862.5	-	2	90	c.17T>G	c.(16-18)cTt>cGt	p.L6R	PRG2_ENST00000525955.1_Missense_Mutation_p.L6R|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.L111R|PRG2_ENST00000533605.1_Missense_Mutation_p.L6R	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	6					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	AAGAGCCAGAAGTAAGGGGAG	0.413																																																	0													181	168	172					11																	57157401		2201	4296	6497	SO:0001583	missense	0			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.17T>G	11.37:g.57157401A>C	ENSP00000312134:p.Leu6Arg		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic	p.L6R	ENST00000311862.5	37	c.17	CCDS7955.1	11	.	.	.	.	.	.	.	.	.	.	A	14.93	2.680944	0.47886	.	.	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;D	0.83250	2.4;2.24;2.4;-1.7	3.97	3.97	0.46021	.	0.437666	0.16841	N	0.197353	D	0.87962	0.6310	M	0.63843	1.955	0.24263	N	0.995275	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.956	T	0.78765	-0.2076	10	0.87932	D	0	2.2461	9.8132	0.40835	1.0:0.0:0.0:0.0	.	6;6	A6XMW0;P13727	.;PRG2_HUMAN	R	6;6;6;111	ENSP00000312134:L6R;ENSP00000433231:L6R;ENSP00000433016:L6R;ENSP00000431536:L111R	ENSP00000312134:L6R	L	-	2	0	RP11-872D17.8;PRG2	56913977	0.547000	0.26465	0.974000	0.42286	0.990000	0.78478	1.460000	0.35244	1.726000	0.51525	0.533000	0.62120	CTT	PRG2	-	prints_Eosinophil_major_basic	ENSG00000186652		0.413	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRG2	HGNC	protein_coding	OTTHUMT00000392468.1		0	17	0	A	NM_002728		57157401	-1			no_errors	ENST00000311862	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.950	C	C	57157401	A	C	57157401	3	2	143	1	0	0	0	0	1	0	0	0	12521	72	3	4	671	4	PRG2	11	57157401	Missense_Mutation	SNP	A	TCGA-R6-A6L6-01B-11D-A33E-09	5745780	57157401	77849115	119	36295											
CTNND1	1500	genome.wustl.edu	37	chr11	57575878	57575878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagtatggtcgatacatccGctctgctctgcgtcaagaga	9	11	10	11	3	3	1	1	0	2	1	5	3	4	1	1	1	3	3	1	1	4	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:57575878G>T	ENST00000399050.4	+	14	2644	c.2108G>T	c.(2107-2109)cGc>cTc	p.R703L	CTNND1_ENST00000524630.1_Missense_Mutation_p.R697L|CTNND1_ENST00000530748.1_Missense_Mutation_p.R649L|CTNND1_ENST00000529526.1_Missense_Mutation_p.R643L|CTNND1_ENST00000527467.1_Missense_Mutation_p.R380L|CTNND1_ENST00000529873.1_Missense_Mutation_p.R643L|CTNND1_ENST00000426142.2_Missense_Mutation_p.R596L|CTNND1_ENST00000428599.2_Missense_Mutation_p.R697L|CTNND1_ENST00000532245.1_Missense_Mutation_p.R596L|CTNND1_ENST00000361796.4_Missense_Mutation_p.R697L|CTNND1_ENST00000526357.1_Missense_Mutation_p.R643L|CTNND1_ENST00000361332.4_Missense_Mutation_p.R697L|CTNND1_ENST00000528232.1_Missense_Mutation_p.R602L|CTNND1_ENST00000529986.1_Missense_Mutation_p.R596L|CTNND1_ENST00000531014.1_Missense_Mutation_p.R374L|CTNND1_ENST00000534579.1_Missense_Mutation_p.R643L|CTNND1_ENST00000526938.1_Missense_Mutation_p.R703L|CTNND1_ENST00000530094.1_Missense_Mutation_p.R596L|CTNND1_ENST00000529919.1_Missense_Mutation_p.R703L|CTNND1_ENST00000415361.2_Missense_Mutation_p.R602L|CTNND1_ENST00000526772.1_Missense_Mutation_p.R374L|CTNND1_ENST00000525902.1_Missense_Mutation_p.R380L|CTNND1_ENST00000532844.1_Missense_Mutation_p.R649L|CTNND1_ENST00000532649.1_Missense_Mutation_p.R643L|CTNND1_ENST00000528621.1_Missense_Mutation_p.R643L|CTNND1_ENST00000358694.6_Missense_Mutation_p.R697L|CTNND1_ENST00000361391.6_Missense_Mutation_p.R697L|CTNND1_ENST00000532787.1_Missense_Mutation_p.R596L|CTNND1_ENST00000399039.4_Missense_Mutation_p.R703L|CTNND1_ENST00000532463.1_Missense_Mutation_p.R596L|CTNND1_ENST00000360682.6_Missense_Mutation_p.R703L|CTNND1_ENST00000533667.1_Missense_Mutation_p.R374L	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	703					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CGATACATCCGCTCTGCTCTG	0.448																																																	0													119	120	120					11																	57575878		1996	4176	6172	SO:0001583	missense	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2108G>T	11.37:g.57575878G>T	ENSP00000382004:p.Arg703Leu		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R703L	ENST00000399050.4	37	c.2108	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.273104	0.95429	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83653	0.5301	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.998;0.998;0.998;0.985;0.998;0.999	D	0.85034	0.0919	10	0.87932	D	0	-3.9308	18.8697	0.92308	0.0:0.0:1.0:0.0	.	703;697;703;596;643;643;697;703;703	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	L	697;703;703;703;697;643;596;703;697;697;596;596;697;596;374;643;643;649;697;380;602;374;374;643;380;649;643;596;602;596;643;703	ENSP00000436543:R697L;ENSP00000434808:R703L;ENSP00000381996:R703L;ENSP00000353902:R703L;ENSP00000354907:R697L;ENSP00000436323:R643L;ENSP00000409930:R596L;ENSP00000382004:R703L;ENSP00000354785:R697L;ENSP00000354823:R697L;ENSP00000432075:R596L;ENSP00000437156:R596L;ENSP00000351527:R697L;ENSP00000434949:R596L;ENSP00000437051:R374L;ENSP00000435379:R643L;ENSP00000432243:R643L;ENSP00000436744:R649L;ENSP00000413586:R697L;ENSP00000434900:R380L;ENSP00000435266:R602L;ENSP00000432623:R374L;ENSP00000433158:R374L;ENSP00000435494:R643L;ENSP00000434672:R380L;ENSP00000433276:R649L;ENSP00000433334:R643L;ENSP00000437327:R596L;ENSP00000403518:R602L;ENSP00000434017:R596L;ENSP00000435789:R643L;ENSP00000432041:R703L	ENSP00000351527:R697L	R	+	2	0	CTNND1	57332454	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.570000	0.86706	0.467000	0.42956	CGC	CTNND1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000198561		0.448	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	-	0	75	0	G	NM_001331		57575878	1	tier1	-	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	13.89	61	10	SNP	1.000	T	T	57575878	G	T	57575878	3	4	143	1	0	0	0	0	1	0	0	0	4028	1087	38	2	2154	2	CTNND1	11	57575878	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	418477	57575878	77430638	120	36296											
PATL1	219988	genome.wustl.edu	37	chr11	59423454	59423454	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctccaagaagctgtgctCtctggagggggctgagaaca	9	8	13	11	0	1	2	0	1	1	2	4	4	3	3	2	3	3	3	2	3	3	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:59423454C>G	ENST00000300146.9	-	7	872	c.788G>C	c.(787-789)aGa>aCa	p.R263T		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	263	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				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)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AAGCTGTGCTCTCTGGAGGGG	0.428																																																	0													14	14	14					11																	59423454		1831	4074	5905	SO:0001583	missense	0			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.788G>C	11.37:g.59423454C>G	ENSP00000300146:p.Arg263Thr		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.R263T	ENST00000300146.9	37	c.788	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915117	0.52546	.	.	ENSG00000166889	ENST00000300146	T	0.47869	0.83	4.91	4.91	0.64330	.	0.114681	0.56097	D	0.000025	T	0.59676	0.2211	L	0.43152	1.355	0.53688	D	0.999972	D	0.62365	0.991	D	0.76071	0.987	T	0.52555	-0.8560	10	0.15952	T	0.53	-8.1191	17.6742	0.88226	0.0:1.0:0.0:0.0	.	263	Q86TB9	PATL1_HUMAN	T	263	ENSP00000300146:R263T	ENSP00000300146:R263T	R	-	2	0	PATL1	59180030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.219000	0.72231	2.253000	0.74438	0.655000	0.94253	AGA	PATL1	-	pfam_Topo_II-assoc_PAT1	ENSG00000166889		0.428	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	-	0	96	0	C	NM_152716		59423454	-1	tier1	-	no_errors	ENST00000300146	ensembl	human	known	74_37	missense	24.42	65	21	SNP	1.000	G	G	59423454	C	G	59423454	3	3	143	1	0	0	0	0	1	0	0	0	11514	913	32	5	1576	5	PATL1	11	59423454	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	1847576	59423454	75583062	121	36297											
CD6	923	genome.wustl.edu	37	chr11	60783215	60783215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatccaggtccaggcccCgccccctgaggactcagact	7	5	10	19	1	1	2	1	1	0	1	3	3	3	3	7	3	0	0	7	3	0	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:60783215C>A	ENST00000313421.7	+	9	1604	c.1418C>A	c.(1417-1419)cCg>cAg	p.P473Q	CD6_ENST00000346437.4_Intron|CD6_ENST00000344028.5_Missense_Mutation_p.P441Q|CD6_ENST00000352009.5_Missense_Mutation_p.P441Q|CD6_ENST00000452451.2_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	473					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						GTCCAGGCCCCGCCCCCTGAG	0.597																																					Pancreas(169;904 2017 4767 38890 42505)												0													113	115	114					11																	60783215		2203	4299	6502	SO:0001583	missense	0				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.1418C>A	11.37:g.60783215C>A	ENSP00000323280:p.Pro473Gln		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.P473Q	ENST00000313421.7	37	c.1418	CCDS7999.1	11	.	.	.	.	.	.	.	.	.	.	C	6.698	0.497379	0.12762	.	.	ENSG00000013725	ENST00000344028;ENST00000313421;ENST00000433107;ENST00000352009	T;T;T;T	0.01406	4.95;4.95;5.04;4.93	5.22	1.15	0.20763	.	0.835619	0.09771	N	0.758051	T	0.01765	0.0056	L	0.51422	1.61	0.22666	N	0.998871	B;B;B	0.31503	0.326;0.028;0.219	B;B;B	0.31337	0.128;0.01;0.06	T	0.46317	-0.9200	10	0.45353	T	0.12	.	4.5134	0.11923	0.1653:0.5838:0.0:0.2509	.	441;473;473	P30203-4;P30203;Q8N4Q7	.;CD6_HUMAN;.	Q	441;473;340;441	ENSP00000344108:P441Q;ENSP00000323280:P473Q;ENSP00000410638:P340Q;ENSP00000340628:P441Q	ENSP00000323280:P473Q	P	+	2	0	CD6	60539791	0.000000	0.05858	0.030000	0.17652	0.172000	0.22775	-1.848000	0.01673	-0.046000	0.13446	0.655000	0.94253	CCG	CD6	-	NULL	ENSG00000013725		0.597	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD6	HGNC	protein_coding	OTTHUMT00000396449.1		0	39	0	C	NM_006725		60783215	1			no_errors	ENST00000313421	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.144	A	A	60783215	C	A	60783215	3	1	143	1	0	0	0	0	1	0	0	0	3035	652	23	2	1452	2	CD6	11	60783215	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	1359761	60783215	74223301	122	36298											
C11orf80	79703	genome.wustl.edu	37	chr11	66555629	66555629	+	Splice_Site	SNP	A	A	G	1	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	gttgccatttcttctcacacAgaaatacagtccatactgcc	11	12	5	13	0	2	1	1	0	2	1	4	1	3	1	3	0	4	1	3	0	3	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:66555629A>G	ENST00000360962.4	+	5	530		c.e5-1		C11orf80_ENST00000527368.1_Splice_Site|C11orf80_ENST00000346672.4_Splice_Site|C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000540737.1_Splice_Site|C11orf80_ENST00000532565.2_Splice_Site|C11orf80_ENST00000525449.2_Splice_Site	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80											autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						CTTCTCACACAGAAATACAGT	0.443																																																	0													74	69	70					11																	66555629		1868	4105	5973	SO:0001630	splice_region_variant	0					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.524-1A>G	11.37:g.66555629A>G			Q9H677	Splice_Site	SNP	-	e5-2	ENST00000360962.4	37	c.524-2	CCDS53664.1	11	.	.	.	.	.	.	.	.	.	.	A	15.44	2.833589	0.50951	.	.	ENSG00000173715	ENST00000525908;ENST00000360962;ENST00000346672;ENST00000528340;ENST00000540737;ENST00000525449	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7953	0.52096	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C11orf80	66312205	0.999000	0.42202	0.974000	0.42286	0.913000	0.54294	4.086000	0.57664	2.053000	0.61076	0.533000	0.62120	.	C11orf80	-	-	ENSG00000173715		0.443	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf80	HGNC	protein_coding			0	62	0	A	NM_024650	Intron	66555629	1			no_errors	ENST00000360962	ensembl	human	known	74_37	splice_site	6.49	72	5	SNP	0.996	G	G	66555629	A	G	66555629	5	3	143	1	0	0	0	0	0	0	1	0	1669	202	7	4	540	4	C11orf80	11	66555629	Splice_Site	SNP	A	TCGA-R6-A6L6-01B-11D-A33E-09	5772414	66555629	68450887	123	36299											
MRGPRF	116535	genome.wustl.edu	37	chr11	68772956	68772956	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatgcacaggtcagtgacGtactcggggaagggggccgg	9	5	18	9	3	1	2	1	1	0	1	2	3	1	3	1	6	2	2	1	6	2	1	rs144312357		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:68772956G>A	ENST00000309099.6	-	3	1204	c.822C>T	c.(820-822)taC>taT	p.Y274Y	RP11-554A11.5_ENST00000562506.1_RNA|MRGPRF_ENST00000441623.1_Silent_p.Y274Y	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	274						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTCAGTGACGTACTCGGGGA	0.617																																																	0								G	,	0,4392		0,0,2196	38	28	31		822,822	0	1	11	dbSNP_134	31	1,8579		0,1,4289	no	coding-synonymous,coding-synonymous	MRGPRF	NM_001098515.1,NM_145015.4	,	0,1,6485	AA,AG,GG		0.0117,0.0,0.0077	,	274/344,274/344	68772956	1,12971	2196	4290	6486	SO:0001819	synonymous_variant	0			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.822C>T	11.37:g.68772956G>A			B3KV43|Q8NBK8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.Y274	ENST00000309099.6	37	c.822	CCDS8188.1	11																																																																																			MRGPRF	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172935		0.617	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	-	0	34	0	G	NM_145015		68772956	-1	tier1	rs144312357	no_errors	ENST00000309099	ensembl	human	known	74_37	silent	23.33	23	7	SNP	0.992	A	A	68772956	G	A	68772956	2	1	143	1	0	0	0	0	0	0	0	1	9803	1140	40	1		1	MRGPRF	11	68772956	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	2217327	68772956	66233560	124	36300											
ODZ4	26011	genome.wustl.edu	37	chr11	78387247	78387247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccgagcctgctctttgcGctggcgccactccaccaggt	4	8	11	18	3	1	0	0	0	1	0	2	1	2	0	6	2	3	2	6	2	0	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:78387247G>A	ENST00000278550.7	-	30	5908	c.5446C>T	c.(5446-5448)Cgc>Tgc	p.R1816C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1816					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)										TGCTCTTTGCGCTGGCGCCAC	0.667																																																	0													14	18	16					11																	78387247		2061	4177	6238	SO:0001583	missense	0			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.5446C>T	11.37:g.78387247G>A	ENSP00000278550:p.Arg1816Cys		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1816C	ENST00000278550.7	37	c.5446	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082509	0.76528	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.91068	-2.78;0.58	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94669	0.7855	9	.	.	.	.	14.1435	0.65334	0.0:0.0:0.8406:0.1594	.	1816	Q6N022	TEN4_HUMAN	C	1816;280	ENSP00000278550:R1816C;ENSP00000431711:R280C	.	R	-	1	0	ODZ4	78064895	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.262000	0.58847	2.584000	0.87258	0.650000	0.86243	CGC	TENM4	-	NULL	ENSG00000149256		0.667	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	84	0	G			78387247	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	17.14	58	12	SNP	1.000	A	A	78387247	G	A	78387247	3	1	143	1	0	0	0	0	1	0	0	0	10876	1087	38	1	2883	1	ODZ4	11	78387247	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	9614291	78387247	56619269	125	36301											
USP28	57646	genome.wustl.edu	37	chr11	113683093	113683093	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctctttcaacttcttccCaggaagattcagtaacagag	13	12	6	10	0	4	2	2	0	2	2	6	3	5	3	1	1	2	1	1	1	4	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:113683093C>G	ENST00000003302.4	-	16	1945	c.1877G>C	c.(1876-1878)tGg>tCg	p.W626S	USP28_ENST00000545540.1_Missense_Mutation_p.W501S|USP28_ENST00000544967.1_Missense_Mutation_p.W334S|USP28_ENST00000260188.5_Missense_Mutation_p.W626S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	626	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)		AACTTCTTCCCAGGAAGATTC	0.418																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												0													130	132	131					11																	113683093		2201	4296	6497	SO:0001583	missense	0			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.1877G>C	11.37:g.113683093C>G	ENSP00000003302:p.Trp626Ser		B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67	p.W626S	ENST00000003302.4	37	c.1877	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206580	0.79127	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.52	4.61	0.57282	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	L	0.58669	1.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.24977	-1.0145	10	0.23891	T	0.37	-7.9862	13.7601	0.62961	0.0:0.9267:0.0:0.0733	.	501;626;334	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	S	626;626;334;501;330	ENSP00000003302:W626S;ENSP00000260188:W626S;ENSP00000442431:W334S;ENSP00000444991:W501S;ENSP00000442257:W330S	ENSP00000003302:W626S	W	-	2	0	USP28	113188303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.772000	0.68889	2.585000	0.87301	0.655000	0.94253	TGG	USP28	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000048028		0.418	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	-	0	34	0	C			113683093	-1	tier1	-	no_errors	ENST00000003302	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	G	G	113683093	C	G	113683093	3	3	143	1	0	0	0	0	1	0	0	0	17107	595	21	5	1396	5	USP28	11	113683093	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	35295846	113683093	21323423	126	36302											
APOC3	345	genome.wustl.edu	37	chr11	116701311	116701311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggtgccatgcagccccggGtactccttgttgttgccctc	4	11	12	14	1	0	0	0	0	0	0	2	1	1	0	5	2	5	4	5	2	1	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:116701311G>T	ENST00000227667.3	+	2	75	c.13G>T	c.(13-15)Gta>Tta	p.V5L	APOC3_ENST00000375345.1_Missense_Mutation_p.V23L|APOC3_ENST00000470144.1_3'UTR	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III	5					cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)			endometrium(1)|lung(6)	7	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;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCAGCCCCGGGTACTCCTTGT	0.667																																					GBM(81;259 1650 7161 35190)												0													83	71	75					11																	116701311		2201	4296	6497	SO:0001583	missense	0			X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"Apolipoproteins"	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.13G>T	11.37:g.116701311G>T	ENSP00000227667:p.Val5Leu		Q08E83|Q6Q786	Missense_Mutation	SNP	pfam_Apo-CIII	p.V5L	ENST00000227667.3	37	c.13	CCDS8377.1	11	.	.	.	.	.	.	.	.	.	.	G	9.563	1.119098	0.20877	.	.	ENSG00000110245	ENST00000433777;ENST00000227667;ENST00000375345	D;D;D	0.90324	-1.53;-2.61;-2.65	4.99	0.83	0.18854	.	0.735374	0.11009	N	0.609678	D	0.83280	0.5220	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.69083	-0.5239	9	0.40728	T	0.16	-13.0788	6.6568	0.22992	0.166:0.4012:0.4327:0.0	.	5	P02656	APOC3_HUMAN	L	5;5;23	ENSP00000410614:V5L;ENSP00000227667:V5L;ENSP00000364494:V23L	ENSP00000227667:V5L	V	+	1	0	APOC3	116206521	0.000000	0.05858	0.170000	0.22879	0.269000	0.26545	-0.054000	0.11826	-0.111000	0.12001	0.561000	0.74099	GTA	APOC3	-	pfam_Apo-CIII	ENSG00000110245		0.667	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOC3	HGNC	protein_coding	OTTHUMT00000106284.2	-	0	72	0	G	NM_000040		116701311	1	tier1	-	no_errors	ENST00000227667	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.067	T	T	116701311	G	T	116701311	3	4	143	1	0	0	0	0	1	0	0	0	799	1261	44	3	15	3	APOC3	11	116701311	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	3018218	116701311	18305205	127	36303											
FOXR1	283150	genome.wustl.edu	37	chr11	118849880	118849880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagcggtctccccctcGgaagcggtttgccttttccc	5	10	10	16	3	1	0	0	0	1	0	4	1	2	1	4	3	4	2	4	3	2	3	rs144422939		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:118849880G>A	ENST00000317011.3	+	3	575	c.350G>A	c.(349-351)cGg>cAg	p.R117Q		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	117					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TCTCCCCCTCGGAAGCGGTTT	0.617																																																	0								G	GLN/ARG	1,4399	2.1+/-5.4	0,1,2199	56	54	55		350	-8.5	0	11	dbSNP_134	55	0,8586		0,0,4293	no	missense	FOXR1	NM_181721.2	43	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	benign	117/293	118849880	1,12985	2200	4293	6493	SO:0001583	missense	0			AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"Forkhead boxes"	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.350G>A	11.37:g.118849880G>A	ENSP00000314806:p.Arg117Gln		B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R117Q	ENST00000317011.3	37	c.350	CCDS31688.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.094|4.094	0.015464|0.015464	0.07959|0.07959	2.27E-4|2.27E-4	0.0|0.0	ENSG00000176302|ENSG00000176302	ENST00000533282|ENST00000317011	.|D	.|0.94497	.|-3.44	4.25|4.25	-8.51|-8.51	0.00923|0.00923	.|.	.|4.066770	.|0.00166	.|N	.|0.000015	D|D	0.84768|0.84768	0.5545|0.5545	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.79971|0.79971	-0.1578|-0.1578	5|10	.|0.02654	.|T	.|1	.|.	3.2509|3.2509	0.06814|0.06814	0.4594:0.2969:0.1437:0.0999|0.4594:0.2969:0.1437:0.0999	.|.	.|117	.|Q6PIV2	.|FOXR1_HUMAN	R|Q	98|117	.|ENSP00000314806:R117Q	.|ENSP00000314806:R117Q	G|R	+|+	1|2	0|0	FOXR1|FOXR1	118355090|118355090	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-2.703000|-2.703000	0.00822|0.00822	-2.408000|-2.408000	0.00573|0.00573	-1.267000|-1.267000	0.01435|0.01435	GGA|CGG	FOXR1	-	NULL	ENSG00000176302		0.617	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR1	HGNC	protein_coding	OTTHUMT00000389312.1	-	0	56	0	G	NM_181721		118849880	1	tier1	rs144422939	no_errors	ENST00000317011	ensembl	human	known	74_37	missense	14.55	47	8	SNP	0.000	A	A	118849880	G	A	118849880	3	1	143	1	0	0	0	0	1	0	0	0	6055	1116	39	1	360	1	FOXR1	11	118849880	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	2148569	118849880	16156636	128	36304											
FOXR1	283150	genome.wustl.edu	37	chr11	118850345	118850345	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaaacagttccccctgtgGcctcaacgtgcaacagatct	12	8	8	13	1	2	2	1	0	1	2	3	2	3	2	3	1	4	2	3	1	4	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:118850345G>C	ENST00000317011.3	+	4	803	c.578G>C	c.(577-579)gGc>gCc	p.G193A		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	193					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TCCCCCTGTGGCCTCAACGTG	0.622																																																	0													64	70	68					11																	118850345		2200	4295	6495	SO:0001583	missense	0			AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"Forkhead boxes"	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.578G>C	11.37:g.118850345G>C	ENSP00000314806:p.Gly193Ala		B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G193A	ENST00000317011.3	37	c.578	CCDS31688.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174155	0.78452	.	.	ENSG00000176302	ENST00000317011	D	0.95307	-3.67	5.74	5.74	0.90152	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.156453	0.56097	D	0.000023	D	0.94751	0.8306	L	0.33093	0.98	0.49915	D	0.999836	D	0.76494	0.999	D	0.73708	0.981	D	0.91747	0.5409	10	0.11485	T	0.65	.	17.4244	0.87522	0.0:0.0:1.0:0.0	.	193	Q6PIV2	FOXR1_HUMAN	A	193	ENSP00000314806:G193A	ENSP00000314806:G193A	G	+	2	0	FOXR1	118355555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.728000	0.93425	0.650000	0.86243	GGC	FOXR1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000176302		0.622	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR1	HGNC	protein_coding	OTTHUMT00000389312.1	-	0	75	0	G	NM_181721		118850345	1	tier1	-	no_errors	ENST00000317011	ensembl	human	known	74_37	missense	22.54	55	16	SNP	1.000	C	C	118850345	G	C	118850345	3	2	143	1	0	0	0	0	1	0	0	0	6055	1203	42	5	592	5	FOXR1	11	118850345	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	465	118850345	16156171	129	36305											
DDX25	29118	genome.wustl.edu	37	chr11	125780362	125780362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaagtgatgtatgccattcGagggaatcgaagtatgtacc	12	11	11	7	2	1	1	1	1	0	0	3	4	1	2	2	1	2	3	2	1	6	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:125780362G>A	ENST00000263576.6	+	7	766	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	204	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		TATGCCATTCGAGGGAATCGA	0.438																																																	0													196	186	190					11																	125780362		1935	4156	6091	SO:0001583	missense	0			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.611G>A	11.37:g.125780362G>A	ENSP00000263576:p.Arg204Gln		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R204Q	ENST00000263576.6	37	c.611	CCDS44766.1	11	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784846	0.70222	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	T	0.04917	3.53	5.82	5.82	0.92795	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.185200	0.37178	N	0.002215	T	0.19366	0.0465	L	0.45228	1.405	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.75484	0.964;0.986	T	0.00984	-1.1491	10	0.26408	T	0.33	-15.5445	19.7036	0.96065	0.0:0.0:1.0:0.0	.	204;204	B4DHI6;Q9UHL0	.;DDX25_HUMAN	Q	90;204;90	ENSP00000263576:R204Q	ENSP00000263576:R204Q	R	+	2	0	DDX25	125285572	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.312000	0.72840	2.747000	0.94245	0.655000	0.94253	CGA	DDX25	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000109832		0.438	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX25	HGNC	protein_coding	OTTHUMT00000386736.3	-	0	62	0	G	NM_013264		125780362	1	tier1	-	no_errors	ENST00000263576	ensembl	human	known	74_37	missense	13.16	66	10	SNP	1.000	A	A	125780362	G	A	125780362	3	1	143	1	0	0	0	0	1	0	0	0	4361	1058	37	1	637	1	DDX25	11	125780362	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	6930017	125780362	9226154	130	36306											
KCNJ1	3758	genome.wustl.edu	37	chr11	128709220	128709220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttggatactatgggagCaaaacggtagccccaaagca	13	8	11	9	1	1	0	0	0	1	0	1	2	1	2	2	3	5	3	2	3	6	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr11:128709220C>T	ENST00000392664.2	-	2	1092	c.976G>A	c.(976-978)Gct>Act	p.A326T	KCNJ1_ENST00000440599.2_Missense_Mutation_p.A307T|KCNJ1_ENST00000324036.3_Missense_Mutation_p.A307T|KCNJ1_ENST00000392666.1_Missense_Mutation_p.A307T|KCNJ1_ENST00000392665.2_Missense_Mutation_p.A307T	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	326					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)	ACTATGGGAGCAAAACGGTAG	0.502																																																	0													83	80	81					11																	128709220		2201	4297	6498	SO:0001583	missense	0			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.976G>A	11.37:g.128709220C>T	ENSP00000376432:p.Ala326Thr		B2RMR4|Q6LD67	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir	p.A326T	ENST00000392664.2	37	c.976	CCDS8476.1	11	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300783	0.23650	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89	5.63	4.71	0.59529	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.303330	0.36268	N	0.002686	D	0.86456	0.5937	L	0.31664	0.95	0.33265	D	0.560297	B	0.29136	0.234	B	0.27715	0.082	D	0.84347	0.0530	10	0.13470	T	0.59	.	16.7346	0.85444	0.0:0.8709:0.1291:0.0	.	326	P48048	IRK1_HUMAN	T	307;307;307;307;326	ENSP00000376433:A307T;ENSP00000376434:A307T;ENSP00000406320:A307T;ENSP00000316233:A307T;ENSP00000376432:A326T	ENSP00000316233:A307T	A	-	1	0	KCNJ1	128214430	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.781000	0.47750	1.343000	0.45638	0.563000	0.77884	GCT	KCNJ1	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir	ENSG00000151704		0.502	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	KCNJ1	HGNC	protein_coding	OTTHUMT00000386233.1		0	34	0	C	NM_000220		128709220	-1			no_errors	ENST00000392664	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	128709220	C	T	128709220	3	4	143	1	0	0	0	0	1	0	0	0	8070	710	25	3	203	3	KCNJ1	11	128709220	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	2928858	128709220	6297296	131	36307											
AKAP3	10566	genome.wustl.edu	37	chr12	4737626	4737626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatttgttttcagagccatCgatcttctcattgatctctt	8	18	5	10	1	4	2	2	1	3	1	7	3	4	2	1	0	1	1	1	0	0	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr12:4737626C>T	ENST00000545990.2	-	5	966	c.442G>A	c.(442-444)Gat>Aat	p.D148N	AKAP3_ENST00000228850.1_Missense_Mutation_p.D148N|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	148					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.D148N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCAGAGCCATCGATCTTCTCA	0.453																																																	2	Substitution - Missense(2)	lung(2)											196	184	188					12																	4737626		2203	4300	6503	SO:0001583	missense	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.442G>A	12.37:g.4737626C>T	ENSP00000440994:p.Asp148Asn		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.D148N	ENST00000545990.2	37	c.442	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	5.244	0.230550	0.09969	.	.	ENSG00000111254	ENST00000228850;ENST00000545990;ENST00000540967	T;T;T	0.34275	3.35;3.35;1.37	4.76	2.89	0.33648	.	0.200393	0.35013	N	0.003501	T	0.25044	0.0608	L	0.36672	1.1	0.19300	N	0.99997	B	0.26195	0.144	B	0.18263	0.021	T	0.16070	-1.0415	10	0.49607	T	0.09	.	7.8469	0.29431	0.0:0.7405:0.169:0.0905	.	148	O75969	AKAP3_HUMAN	N	148	ENSP00000228850:D148N;ENSP00000440994:D148N;ENSP00000442376:D148N	ENSP00000228850:D148N	D	-	1	0	AKAP3	4607887	0.865000	0.29922	0.032000	0.17829	0.103000	0.19146	1.363000	0.34159	0.688000	0.31529	-0.137000	0.14449	GAT	AKAP3	-	smart_AKAP_110	ENSG00000111254		0.453	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2		0	53	0	C	NM_006422		4737626	-1			no_errors	ENST00000228850	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.397	T	T	4737626	C	T	4737626	3	4	143	1	0	0	0	0	1	0	0	0	452	884	31	1	2127	1	AKAP3	12	4737626	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09		4737626	129114269	132	36308											
KCNA5	3741	genome.wustl.edu	37	chr12	5153934	5153934	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cgcttctaccagctgggggaCgaggccatggagcgcttccg	6	7	15	13	4	1	0	0	0	1	0	2	3	2	2	3	4	3	3	3	4	1	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr12:5153934C>T	ENST00000252321.3	+	1	850	c.621C>T	c.(619-621)gaC>gaT	p.D207D		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	207					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|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 membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	AGCTGGGGGACGAGGCCATGG	0.622																																																	0													46	50	48					12																	5153934		2203	4300	6503	SO:0001819	synonymous_variant	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.621C>T	12.37:g.5153934C>T			Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.D207	ENST00000252321.3	37	c.621	CCDS8536.1	12																																																																																			KCNA5	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1	ENSG00000130037		0.622	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	-	0	116	0	C	NM_002234		5153934	1	tier1	-	no_errors	ENST00000252321	ensembl	human	known	74_37	silent	9.68	84	9	SNP	0.537	T	T	5153934	C	T	5153934	2	4	143	1	0	0	0	0	0	0	0	1	8033	535	19	1		1	KCNA5	12	5153934	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	416308	5153934	128697961	133	36309											
TNFRSF1A	7132	genome.wustl.edu	37	chr12	6442549	6442549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacaggagaggtgcacggtCccattgaggcagaggctgca	10	6	15	10	1	1	3	1	1	0	2	2	4	2	3	1	5	2	4	1	5	0	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr12:6442549C>T	ENST00000162749.2	-	4	755	c.456G>A	c.(454-456)ggG>ggA	p.G152G	TNFRSF1A_ENST00000540022.1_Silent_p.G109G|TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000366159.4_Silent_p.G152G	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	152					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGTGCACGGTCCCATTGAGGC	0.597																																																	0													49	47	47					12																	6442549		2203	4300	6503	SO:0001819	synonymous_variant	0			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.456G>A	12.37:g.6442549C>T			A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	NULL	p.G101E	ENST00000162749.2	37	c.302	CCDS8542.1	12																																																																																			TNFRSF1A	-	NULL	ENSG00000067182		0.597	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	HGNC	protein_coding	OTTHUMT00000399038.1	-	0	26	0	C	NM_001065		6442549	-1	tier1	-	no_errors	ENST00000534885	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.994	T	T	6442549	C	T	6442549	2	4	143	1	0	0	0	0	0	0	0	1	16340	842	30	3		3	TNFRSF1A	12	6442549	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	1288615	6442549	127409346	134	36310											
PLBD1	79887	genome.wustl.edu	37	chr12	14664493	14664493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacctcttgccactatctgCcatcatattggccacacgga	9	10	6	16	1	3	0	1	0	2	0	3	1	3	1	5	2	2	0	5	2	2	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr12:14664493C>A	ENST00000240617.5	-	7	1649	c.997G>T	c.(997-999)Gca>Tca	p.A333S		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	333					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CCACTATCTGCCATCATATTG	0.443																																																	0													169	163	165					12																	14664493		2203	4300	6503	SO:0001583	missense	0			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.997G>T	12.37:g.14664493C>A	ENSP00000240617:p.Ala333Ser		A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	pfam_PLipase_B-like	p.A333S	ENST00000240617.5	37	c.997	CCDS31751.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.156360	0.94686	.	.	ENSG00000121316	ENST00000240617	T	0.19806	2.12	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	L	0.48935	1.535	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	T	0.07829	-1.0752	10	0.62326	D	0.03	-16.2522	18.2436	0.89977	0.0:1.0:0.0:0.0	.	333	Q6P4A8	PLBL1_HUMAN	S	333	ENSP00000240617:A333S	ENSP00000240617:A333S	A	-	1	0	PLBD1	14555760	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	7.299000	0.78831	2.735000	0.93741	0.655000	0.94253	GCA	PLBD1	-	pfam_PLipase_B-like	ENSG00000121316		0.443	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1		0	56	0	C	NM_024829		14664493	-1			no_errors	ENST00000240617	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	14664493	C	A	14664493	3	1	143	1	0	0	0	0	1	0	0	0	12064	739	26	3	684	3	PLBD1	12	14664493	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	8221944	14664493	119187402	135	36311											
PDZRN4	29951	genome.wustl.edu	37	chr12	41966630	41966630	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgagtgtcagaatatCatgcaggctcacaggctcca	11	9	11	10	0	3	2	3	1	0	1	4	3	4	2	1	2	2	4	1	2	2	2	rs138663536		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr12:41966630C>A	ENST00000402685.2	+	10	2057	c.2049C>A	c.(2047-2049)atC>atA	p.I683I	PDZRN4_ENST00000539469.2_Silent_p.I425I|PDZRN4_ENST00000298919.7_Silent_p.I423I	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	683							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)				GTCAGAATATCATGCAGGCTC	0.453																																																	0													99	91	94					12																	41966630		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2049C>A	12.37:g.41966630C>A			Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.I683	ENST00000402685.2	37	c.2049	CCDS53777.1	12																																																																																			PDZRN4	-	NULL	ENSG00000165966		0.453	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	-	0	55	0	C	NM_013377		41966630	1	tier1	-	no_errors	ENST00000402685	ensembl	human	known	74_37	silent	13.73	44	7	SNP	1.000	A	A	41966630	C	A	41966630	2	1	143	1	0	0	0	0	0	0	0	1	11749	816	29	3		3	PDZRN4	12	41966630	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	27302137	41966630	91885265	136	36312											
FAM113B	91523	genome.wustl.edu	37	chr12	47628922	47628922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctgggggactctgtgCatagggcagtatacaaggac	10	9	13	9	0	2	0	1	0	1	0	3	2	3	2	1	4	2	3	1	4	4	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr12:47628922C>T	ENST00000546455.1	+	4	807	c.76C>T	c.(76-78)Cat>Tat	p.H26Y	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.H26Y			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	26							hydrolase activity (GO:0016787)										GGACTCTGTGCATAGGGCAGT	0.592																																																	0													75	73	74					12																	47628922		2203	4300	6503	SO:0001583	missense	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.76C>T	12.37:g.47628922C>T	ENSP00000446688:p.His26Tyr		Q96B20	Missense_Mutation	SNP	NULL	p.H26Y	ENST00000546455.1	37	c.76	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025150	0.54683	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630;ENST00000551777	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	4.06	4.06	0.47325	Esterase, SGNH hydrolase-type (1);	0.286062	0.28006	N	0.016974	T	0.20981	0.0505	L	0.44542	1.39	0.37397	D	0.912706	D	0.54601	0.967	P	0.48840	0.592	T	0.04811	-1.0925	10	0.87932	D	0	-13.0074	12.0477	0.53489	0.0:1.0:0.0:0.0	.	26	Q96HM7	F113B_HUMAN	Y	26	ENSP00000446688:H26Y;ENSP00000396040:H26Y;ENSP00000449680:H26Y;ENSP00000448000:H26Y;ENSP00000448926:H26Y	ENSP00000396040:H26Y	H	+	1	0	FAM113B	45915189	1.000000	0.71417	0.978000	0.43139	0.249000	0.25844	4.787000	0.62432	2.567000	0.86603	0.655000	0.94253	CAT	PCED1B	-	NULL	ENSG00000179715		0.592	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	-	0	68	0	C	NM_138371		47628922	1	tier1	-	no_errors	ENST00000432328	ensembl	human	known	74_37	missense	19.51	33	8	SNP	1.000	T	T	47628922	C	T	47628922	3	4	143	1	0	0	0	0	1	0	0	0	5421	710	25	3	78	3	FAM113B	12	47628922	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	5662292	47628922	86222973	137	36313											
KRT73	319101	genome.wustl.edu	37	chr12	53009084	53009084	+	Missense_Mutation	SNP	A	A	T	1	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	ttcttaagcaccacaaattcAttctcagcagttgtgcgctt	10	14	6	11	1	3	0	2	0	2	0	4	0	3	0	1	0	3	4	1	0	2	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr12:53009084A>T	ENST00000305748.3	-	3	736	c.702T>A	c.(700-702)aaT>aaA	p.N234K	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	234	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCACAAATTCATTCTCAGCAG	0.507																																																	0													202	173	183					12																	53009084		2203	4300	6503	SO:0001583	missense	0			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.702T>A	12.37:g.53009084A>T	ENSP00000307014:p.Asn234Lys		Q32MB2	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.N234K	ENST00000305748.3	37	c.702	CCDS8834.1	12	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679967	0.68042	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	T;T	0.76316	-0.93;-1.01	4.7	-0.281	0.12882	Filament (1);	0.000000	0.51477	D	0.000095	D	0.89518	0.6738	H	0.96080	3.765	0.30861	N	0.733477	D	0.89917	1.0	D	0.97110	1.0	D	0.86125	0.1571	10	0.87932	D	0	.	9.1395	0.36894	0.7019:0.0:0.2981:0.0	.	234	Q86Y46	K2C73_HUMAN	K	234;11	ENSP00000307014:N234K;ENSP00000449081:N11K	ENSP00000307014:N234K	N	-	3	2	KRT73	51295351	0.760000	0.28428	0.999000	0.59377	0.733000	0.41908	0.007000	0.13174	0.056000	0.16144	0.455000	0.32223	AAT	KRT73	-	pfam_IF,prints_Keratin_II	ENSG00000186049		0.507	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT73	HGNC	protein_coding	OTTHUMT00000405700.1	-	0	36	0	A	NM_175068		53009084	-1	tier1	-	no_errors	ENST00000305748	ensembl	human	known	74_37	missense	22.58	24	7	SNP	1.000	T	T	53009084	A	T	53009084	3	4	143	1	0	0	0	0	1	0	0	0	8513	214	8	5	948	5	KRT73	12	53009084	Missense_Mutation	SNP	A	TCGA-R6-A6L6-01B-11D-A33E-09	5380162	53009084	80842811	138	36314											
RARG	5916	genome.wustl.edu	37	chr12	53606933	53606933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgggaacatgtagggctgGctgggccgccggcgccgggc	4	6	19	12	4	0	0	0	0	0	0	0	1	0	1	3	6	1	3	3	6	2	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr12:53606933G>T	ENST00000425354.2	-	9	1600	c.1113C>A	c.(1111-1113)agC>agA	p.S371R	RARG_ENST00000543726.1_Missense_Mutation_p.S349R|RARG_ENST00000338561.5_Missense_Mutation_p.S360R|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.S371R|RARG_ENST00000327550.3_Missense_Mutation_p.S299R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	371	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)	TGTAGGGCTGGCTGGGCCGCC	0.612											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													58	55	56					12																	53606933		2203	4300	6503	SO:0001583	missense	0			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.1113C>A	12.37:g.53606933G>T	ENSP00000388510:p.Ser371Arg	993	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.S371R	ENST00000425354.2	37	c.1113	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337145	0.81801	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.42	3.61	0.41365	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.147481	0.64402	D	0.000010	T	0.24160	0.0585	N	0.21583	0.68	0.46798	D	0.999206	P;P;B	0.38473	0.575;0.633;0.135	B;B;B	0.35353	0.156;0.184;0.201	T	0.05767	-1.0865	10	0.72032	D	0.01	.	11.2659	0.49110	0.1513:0.0:0.8487:0.0	.	349;371;360	B7Z4F1;P13631;F1D8P1	.;RARG_HUMAN;.	R	371;371;299;360;349	ENSP00000388510:S371R;ENSP00000377947:S371R;ENSP00000332695:S299R;ENSP00000343698:S360R;ENSP00000444335:S349R	ENSP00000332695:S299R	S	-	3	2	RARG	51893200	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.714000	0.68422	0.791000	0.33826	0.563000	0.77884	AGC	RARG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000172819		0.612	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	-	0	47	0	G	NM_000966		53606933	-1	tier1	-	no_errors	ENST00000394426	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	53606933	G	T	53606933	3	4	143	1	0	0	0	0	1	0	0	0	13099	1194	42	3	259	3	RARG	12	53606933	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	597849	53606933	80244962	139	36315											
GLIPR1L1	256710	genome.wustl.edu	37	chr12	75728663	75728663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tggcaaagtcaaccctcccgCggccgacatgaaatacatgg	12	6	10	13	3	1	1	1	1	0	0	2	2	2	1	3	3	2	1	3	3	4	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr12:75728663C>T	ENST00000378695.4	+	1	245	c.155C>T	c.(154-156)gCg>gTg	p.A52V	GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.A52V|CAPS2_ENST00000442339.2_Intron			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	52	SCP.				binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)		p.A52V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AACCCTCCCGCGGCCGACATG	0.483											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	prostate(1)											75	74	74					12																	75728663		2203	4300	6503	SO:0001583	missense	0			BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.155C>T	12.37:g.75728663C>T	ENSP00000367967:p.Ala52Val	1162	Q96L06	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.A52V	ENST00000378695.4	37	c.155		12	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584112	0.65992	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.62232	0.04;0.04	4.81	3.88	0.44766	CAP domain (3);	0.067701	0.64402	D	0.000018	D	0.83599	0.5289	H	0.95365	3.66	0.36857	D	0.888194	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.948	D	0.89785	0.3964	10	0.87932	D	0	.	12.292	0.54823	0.0:0.8296:0.1704:0.0	.	52;52	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	V	52	ENSP00000367967:A52V;ENSP00000310770:A52V	ENSP00000310770:A52V	A	+	2	0	GLIPR1L1	74014930	0.896000	0.30565	0.060000	0.19600	0.055000	0.15305	2.747000	0.47475	2.225000	0.72522	0.563000	0.77884	GCG	GLIPR1L1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000173401		0.483	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	GLIPR1L1	HGNC	protein_coding	OTTHUMT00000405714.1		0	93	0	C	NM_152779		75728663	1			no_errors	ENST00000378695	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.417	T	T	75728663	C	T	75728663	3	4	143	1	0	0	0	0	1	0	0	0	6468	768	27	1	157	1	GLIPR1L1	12	75728663	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	22121730	75728663	58123232	140	36316											
GPR12	2835	genome.wustl.edu	37	chr13	27333602	27333602	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagaggcagagaaagaggcGacaatgaggccgatcgtgac	15	3	15	8	3	0	5	0	2	0	3	1	8	0	5	1	3	0	1	1	3	2	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr13:27333602G>A	ENST00000381436.2	-	1	825	c.363C>T	c.(361-363)gtC>gtT	p.V121V	GPR12_ENST00000405846.3_Silent_p.V121V			P47775	GPR12_HUMAN	G protein-coupled receptor 12	121					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		AGAAAGAGGCGACAATGAGGC	0.537																																																	0													118	106	110					13																	27333602		2203	4300	6503	SO:0001819	synonymous_variant	0			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.363C>T	13.37:g.27333602G>A			Q5T8P3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn	p.V121	ENST00000381436.2	37	c.363	CCDS9319.1	13																																																																																			GPR12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000132975		0.537	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR12	HGNC	protein_coding	OTTHUMT00000044257.2	-	0	29	0	G			27333602	-1	tier1	-	no_errors	ENST00000381436	ensembl	human	known	74_37	silent	19.23	21	5	SNP	0.984	A	A	27333602	G	A	27333602	2	1	143	1	0	0	0	0	0	0	0	1	6661	1045	37	1		1	GPR12	13	27333602	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09		27333602	87836276	141	36317											
FLT3	2322	genome.wustl.edu	37	chr13	28623601	28623601	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtcgtttcttgccactGatgatacaaaagcaaacaga	13	10	9	9	2	1	3	0	2	1	1	2	3	1	3	1	1	4	2	1	1	4	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr13:28623601G>T	ENST00000241453.7	-	8	1037	c.956C>A	c.(955-957)tCa>tAa	p.S319*	FLT3_ENST00000537084.1_Nonsense_Mutation_p.S319*|FLT3_ENST00000380982.4_Nonsense_Mutation_p.S319*	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	319	Ig-like C2-type.				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)	TCTTGCCACTGATGATACAAA	0.413			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													190	170	177					13																	28623601		2203	4300	6503	SO:0001587	stop_gained	0			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.956C>A	13.37:g.28623601G>T	ENSP00000241453:p.Ser319*		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S319*	ENST00000241453.7	37	c.956	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	G	38	6.673468	0.97751	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.62	5.62	0.85841	.	0.106952	0.42682	D	0.000679	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1787	0.86849	0.0:0.0:1.0:0.0	.	.	.	.	X	319	.	ENSP00000241453:S319X	S	-	2	0	FLT3	27521601	1.000000	0.71417	0.997000	0.53966	0.903000	0.53119	5.769000	0.68865	2.809000	0.96659	0.655000	0.94253	TCA	FLT3	-	pfam_Immunoglobulin,pfscan_Ig-like_dom	ENSG00000122025		0.413	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	-	0	58	0	G			28623601	-1	tier1	-	no_errors	ENST00000380982	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	1.000	T	T	28623601	G	T	28623601	4	4	143	1	0	0	0	0	0	1	0	0	5964	1294	45	3	2093	3	FLT3	13	28623601	Nonsense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	1289999	28623601	86546277	142	36318											
STARD13	90627	genome.wustl.edu	37	chr13	33685025	33685025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catacgagttacgagactggGccaccaactcgtgtggaacc	11	7	11	12	3	0	1	0	0	0	1	1	4	0	2	3	2	4	1	3	2	4	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr13:33685025G>C	ENST00000336934.5	-	11	2743	c.2627C>G	c.(2626-2628)gCc>gGc	p.A876G	STARD13_ENST00000399365.3_Missense_Mutation_p.A758G|STARD13_ENST00000255486.4_Missense_Mutation_p.A868G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	876					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ACGAGACTGGGCCACCAACTC	0.532																																																	0													109	76	87					13																	33685025		2203	4300	6503	SO:0001583	missense	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2627C>G	13.37:g.33685025G>C	ENSP00000338785:p.Ala876Gly		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.A876G	ENST00000336934.5	37	c.2627	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566260	0.45694	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.06142	3.35;3.34;3.35	5.93	5.93	0.95920	.	0.250756	0.47093	D	0.000245	T	0.10208	0.0250	L	0.46741	1.465	0.80722	D	1	B;B;B	0.25206	0.12;0.002;0.001	B;B;B	0.28916	0.096;0.004;0.009	T	0.20571	-1.0271	10	0.28530	T	0.3	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	841;876;868	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	G	758;868;876	ENSP00000382300:A758G;ENSP00000255486:A868G;ENSP00000338785:A876G	ENSP00000255486:A868G	A	-	2	0	STARD13	32583025	0.930000	0.31532	1.000000	0.80357	0.779000	0.44077	4.381000	0.59587	2.797000	0.96272	0.655000	0.94253	GCC	STARD13	-	NULL	ENSG00000133121		0.532	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	-	0	70	0	G	NM_001243466		33685025	-1	tier1	-	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	11.86	51	7	SNP	0.999	C	C	33685025	G	C	33685025	3	2	143	1	0	0	0	0	1	0	0	0	15303	1203	42	5	730	5	STARD13	13	33685025	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	5061424	33685025	81484853	143	36319											
FREM2	341640	genome.wustl.edu	37	chr13	39265254	39265254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaccttggatcagatcaTagagagttccagcattattt	11	14	7	9	0	3	2	3	0	0	2	4	4	4	3	2	1	1	2	2	1	2	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr13:39265254T>C	ENST00000280481.7	+	1	3989	c.3773T>C	c.(3772-3774)aTa>aCa	p.I1258T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1258					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)		GATCAGATCATAGAGAGTTCC	0.423																																																	0													206	201	203					13																	39265254		2203	4300	6503	SO:0001583	missense	0			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.3773T>C	13.37:g.39265254T>C	ENSP00000280481:p.Ile1258Thr		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.I1258T	ENST00000280481.7	37	c.3773	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	T	1.719	-0.497129	0.04291	.	.	ENSG00000150893	ENST00000280481	T	0.37584	1.19	6.01	4.85	0.62838	Cadherin (1);	0.314346	0.38959	N	0.001512	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.06409	-1.0828	10	0.29301	T	0.29	.	1.2266	0.01934	0.1667:0.1267:0.1751:0.5315	.	1258	Q5SZK8	FREM2_HUMAN	T	1258	ENSP00000280481:I1258T	ENSP00000280481:I1258T	I	+	2	0	FREM2	38163254	0.004000	0.15560	1.000000	0.80357	0.994000	0.84299	0.053000	0.14184	2.306000	0.77630	0.533000	0.62120	ATA	FREM2	-	superfamily_Cadherin-like	ENSG00000150893		0.423	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	54	0	T	NM_207361		39265254	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	10.00	63	7	SNP	0.078	C	C	39265254	T	C	39265254	3	2	143	1	0	0	0	0	1	0	0	0	6069	1406	49	4	3775	4	FREM2	13	39265254	Missense_Mutation	SNP	T	TCGA-R6-A6L6-01B-11D-A33E-09	5580229	39265254	75904624	144	36320											
WBP4	11193	genome.wustl.edu	37	chr13	41642797	41642797	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaagaagaaaagaaaaaaAgatccttcaaagggcagatg	23	4	10	4	0	1	5	1	0	0	5	2	6	2	5	1	1	0	1	1	1	9	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr13:41642797A>G	ENST00000379487.3	+	5	763	c.363A>G	c.(361-363)aaA>aaG	p.K121K	WBP4_ENST00000542082.1_Silent_p.K100K	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	121	Lys-rich.				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)		aaagaaaaaaagaTCCTTCAA	0.383																																																	0													93	92	92					13																	41642797		2203	4300	6503	SO:0001819	synonymous_variant	0			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.363A>G	13.37:g.41642797A>G			B7Z4M2|Q32P29	Silent	SNP	pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin	p.K121	ENST00000379487.3	37	c.363	CCDS9375.1	13																																																																																			WBP4	-	NULL	ENSG00000120688		0.383	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP4	HGNC	protein_coding	OTTHUMT00000044655.2	-	0	33	0	A	NM_007187		41642797	1	tier1	-	no_errors	ENST00000379487	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.981	G	G	41642797	A	G	41642797	2	3	143	1	0	0	0	0	0	0	0	1	17310	69	3	4		4	WBP4	13	41642797	Silent	SNP	A	TCGA-R6-A6L6-01B-11D-A33E-09	2377543	41642797	73527081	145	36321											
TPP2	7174	genome.wustl.edu	37	chr13	103301427	103301427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttgcacttctagggaaGaagaaatcaagcaatttgac	15	11	9	6	0	2	3	1	1	1	2	2	4	2	4	0	1	2	3	0	1	6	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr13:103301427G>T	ENST00000376065.4	+	22	2835	c.2799G>T	c.(2797-2799)aaG>aaT	p.K933N	TPP2_ENST00000376052.3_Missense_Mutation_p.K933N	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	933					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)					TTCTAGGGAAGAAGAAATCAA	0.333																																																	0													144	139	140					13																	103301427		2203	4300	6503	SO:0001583	missense	0			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.2799G>T	13.37:g.103301427G>T	ENSP00000365233:p.Lys933Asn		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.K933N	ENST00000376065.4	37	c.2799	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959430	0.74016	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.76	4.92	0.64577	Peptidase S8A, tripeptidyl peptidase II (1);	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.68961	-0.5271	9	0.59425	D	0.04	.	14.3491	0.66688	0.0706:0.0:0.9294:0.0	.	933	P29144	TPP2_HUMAN	N	933	.	ENSP00000365220:K933N	K	+	3	2	TPP2	102099428	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.422000	0.66453	1.438000	0.47492	0.591000	0.81541	AAG	TPP2	-	pfam_Peptidase_S8A_TPPII	ENSG00000134900		0.333	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2		0	26	0	G			103301427	1			no_errors	ENST00000376065	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	103301427	G	T	103301427	3	4	143	1	0	0	0	0	1	0	0	0	16460	933	33	3	2885	3	TPP2	13	103301427	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	61658630	103301427	11868451	146	36322											
TFDP1	7027	genome.wustl.edu	37	chr13	114292205	114292205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctaacggcacaaggttctCtgccaggtgacagtcgttga	9	10	12	10	2	2	2	0	2	2	0	4	2	2	2	1	3	2	3	1	3	2	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr13:114292205C>T	ENST00000375370.5	+	11	1291	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	TFDP1_ENST00000538138.1_Intron|TFDP1_ENST00000544902.1_Missense_Mutation_p.S331F	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	360					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)|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 coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ACAAGGTTCTCTGCCAGGTGA	0.587										TSP Lung(29;0.18)																																							0													109	95	99					13																	114292205		2203	4300	6503	SO:0001583	missense	0			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.1079C>T	13.37:g.114292205C>T	ENSP00000364519:p.Ser360Phe		B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.S360F	ENST00000375370.5	37	c.1079	CCDS9538.1	13	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961573	0.34659	.	.	ENSG00000198176	ENST00000375370;ENST00000544902	T;T	0.53640	1.84;0.61	4.56	4.56	0.56223	.	0.218681	0.49305	D	0.000147	T	0.60818	0.2298	M	0.76574	2.34	0.80722	D	1	D;P	0.53462	0.96;0.818	P;B	0.51918	0.684;0.165	T	0.68473	-0.5399	10	0.72032	D	0.01	.	16.6755	0.85278	0.0:1.0:0.0:0.0	.	331;360	F5H452;Q14186	.;TFDP1_HUMAN	F	360;331	ENSP00000364519:S360F;ENSP00000438450:S331F	ENSP00000364519:S360F	S	+	2	0	TFDP1	113340206	1.000000	0.71417	0.974000	0.42286	0.062000	0.15995	4.314000	0.59166	2.231000	0.72958	0.561000	0.74099	TCT	TFDP1	-	pirsf_Transcrpt_fac_DP	ENSG00000198176		0.587	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP1	HGNC	protein_coding	OTTHUMT00000045918.3	-	0	41	0	C	NM_007111		114292205	1	tier1	-	no_errors	ENST00000375370	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	114292205	C	T	114292205	3	4	143	1	0	0	0	0	1	0	0	0	15844	913	32	3	1117	3	TFDP1	13	114292205	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	10990778	114292205	877673	147	36323											
RPGRIP1	57096	genome.wustl.edu	37	chr14	21790078	21790078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacaaagaaaagctggaGaggttgactcgactactaga	16	7	11	7	1	1	4	1	1	0	3	2	7	1	4	0	2	2	2	0	2	5	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr14:21790078G>T	ENST00000400017.2	+	13	1677	c.1677G>T	c.(1675-1677)gaG>gaT	p.E559D	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E532D|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E532D|RPGRIP1_ENST00000307974.4_5'Flank|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E201D|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E559D|RPGRIP1_ENST00000553500.1_3'UTR	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	559					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)		AAAAGCTGGAGAGGTTGACTC	0.403																																																	0													93	90	91					14																	21790078		1898	4111	6009	SO:0001583	missense	0			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.1677G>T	14.37:g.21790078G>T	ENSP00000382895:p.Glu559Asp		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_dom	p.E559D	ENST00000400017.2	37	c.1677	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	8.358	0.832440	0.16820	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000554303	T;T;T;T;T;T;T	0.80909	-0.34;-1.03;-1.13;-1.13;-0.76;-1.37;-1.43	4.58	2.73	0.32206	.	0.674259	0.14952	N	0.288840	D	0.83695	0.5310	M	0.66939	2.045	0.80722	D	1	D;B;D;D	0.64830	0.99;0.033;0.99;0.994	P;B;P;P	0.58928	0.848;0.027;0.848;0.709	T	0.80202	-0.1480	10	0.49607	T	0.09	-6.3836	5.9258	0.19112	0.1738:0.1594:0.6668:0.0	.	34;201;175;559	G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	D	532;532;559;559;201;34;32	ENSP00000450445:E532D;ENSP00000451219:E532D;ENSP00000382895:E559D;ENSP00000206660:E559D;ENSP00000372391:E201D;ENSP00000451262:E34D;ENSP00000450426:E32D	ENSP00000206660:E559D	E	+	3	2	RPGRIP1	20859918	0.965000	0.33210	0.944000	0.38274	0.375000	0.29983	1.492000	0.35594	0.649000	0.30751	0.305000	0.20034	GAG	RPGRIP1	-	NULL	ENSG00000092200		0.403	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1		0	71	0	G	NM_020366		21790078	1			no_errors	ENST00000206660	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.972	T	T	21790078	G	T	21790078	3	4	143	1	0	0	0	0	1	0	0	0	13594	933	33	3	1727	3	RPGRIP1	14	21790078	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09		21790078	85559462	148	36324											
HAUS4	54930	genome.wustl.edu	37	chr14	23417124	23417124	+	Nonsense_Mutation	SNP	T	T	A	0	1	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	cagcagcaacatctgctcctTctgctggctcttggcatcct	6	12	8	15	0	3	0	0	0	3	0	5	0	5	0	2	2	5	6	2	2	1	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr14:23417124T>A	ENST00000206474.7	-	7	913	c.661A>T	c.(661-663)Aag>Tag	p.K221*	HAUS4_ENST00000490506.1_Nonsense_Mutation_p.K97*|HAUS4_ENST00000342454.8_Nonsense_Mutation_p.K176*|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000555986.1_Nonsense_Mutation_p.K176*|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000347758.2_Intron|RP11-298I3.1_ENST00000548322.1_RNA|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.E50V|HAUS4_ENST00000555367.1_Nonsense_Mutation_p.K176*|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Nonsense_Mutation_p.K221*			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	221					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						ATCTGCTCCTTCTGCTGGCTC	0.557																																																	0													98	85	89					14																	23417124		2203	4300	6503	SO:0001587	stop_gained	0			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.661A>T	14.37:g.23417124T>A	ENSP00000206474:p.Lys221*		B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Nonsense_Mutation	SNP	NULL	p.K221*	ENST00000206474.7	37	c.661	CCDS9580.1	14	.	.	.	.	.	.	.	.	.	.	T	37	6.490991	0.97612	.	.	ENSG00000092036	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000555367;ENST00000555986;ENST00000555040	.	.	.	5.24	-2.42	0.06542	.	0.437567	0.26899	N	0.021931	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7745	8.5638	0.33527	0.0:0.0816:0.5634:0.355	.	.	.	.	X	221;97;221;176;176;176;221	.	ENSP00000206474:K221X	K	-	1	0	HAUS4	22486964	0.968000	0.33430	0.979000	0.43373	0.991000	0.79684	-0.123000	0.10611	-0.703000	0.05049	0.477000	0.44152	AAG	HAUS4	-	NULL	ENSG00000092036		0.557	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS4	HGNC	protein_coding	OTTHUMT00000071680.3		0	30	0	T			23417124	-1			no_errors	ENST00000206474	ensembl	human	known	74_37	nonsense	17.86	23	5	SNP	0.993	A	A	23417124	T	A	23417124	4	1	143	1	0	0	0	0	0	1	0	0	6995	1792	62	5	446	5	HAUS4	14	23417124	Nonsense_Mutation	SNP	T	TCGA-R6-A6L6-01B-11D-A33E-09	1627046	23417124	83932416	149	36325											
CLEC14A	161198	genome.wustl.edu	37	chr14	38724781	38724781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgggctcgaccccaccGgtggcctggagtaccgcgca	5	5	14	17	5	0	0	0	0	0	0	1	2	0	1	6	4	2	3	6	4	1	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr14:38724781G>A	ENST00000342213.2	-	1	793	c.447C>T	c.(445-447)acC>acT	p.T149T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	149	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CGACCCCACCGGTGGCCTGGA	0.677																																																	0													31	31	31					14																	38724781		2203	4294	6497	SO:0001819	synonymous_variant	0				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.447C>T	14.37:g.38724781G>A			Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T149	ENST00000342213.2	37	c.447	CCDS9667.1	14																																																																																			CLEC14A	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000176435		0.677	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	-	0	43	0	G	NM_175060		38724781	-1	tier1	-	no_errors	ENST00000342213	ensembl	human	known	74_37	silent	10.87	41	5	SNP	0.041	A	A	38724781	G	A	38724781	2	1	143	1	0	0	0	0	0	0	0	1	3506	1103	39	1		1	CLEC14A	14	38724781	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	15307657	38724781	68624759	150	36326											
FRMD6	122786	genome.wustl.edu	37	chr14	52174919	52174919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggctgtccgactggatGacgtcgctgttcattactac	9	11	11	10	3	1	2	1	1	0	1	3	4	2	3	1	2	2	3	1	2	3	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr14:52174919G>A	ENST00000344768.5	+	7	878	c.682G>A	c.(682-684)Gac>Aac	p.D228N	FRMD6_ENST00000395718.2_Missense_Mutation_p.D220N|FRMD6_ENST00000554167.1_Missense_Mutation_p.D151N|FRMD6_ENST00000356218.4_Missense_Mutation_p.D220N			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	228	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)					CCGACTGGATGACGTCGCTGT	0.398																																																	0													89	77	81					14																	52174919		2203	4300	6503	SO:0001583	missense	0			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.682G>A	14.37:g.52174919G>A	ENSP00000343899:p.Asp228Asn		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.D228N	ENST00000344768.5	37	c.682	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.352482	0.95830	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000557405	D;D;D;D;T	0.82081	-1.57;-1.57;-1.57;-1.57;-1.27	5.57	5.57	0.84162	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.91216	0.7232	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.982;0.994;0.998	D	0.90931	0.4790	10	0.52906	T	0.07	.	19.5302	0.95226	0.0:0.0:1.0:0.0	.	151;228;220	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	N	220;220;228;151;118	ENSP00000348550:D220N;ENSP00000379068:D220N;ENSP00000343899:D228N;ENSP00000451977:D151N;ENSP00000450667:D118N	ENSP00000343899:D228N	D	+	1	0	FRMD6	51244669	1.000000	0.71417	0.909000	0.35828	0.757000	0.42996	9.869000	0.99810	2.633000	0.89246	0.591000	0.81541	GAC	FRMD6	-	pfam_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000139926		0.398	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	-	0	41	0	G	NM_152330		52174919	1	tier1	-	no_errors	ENST00000344768	ensembl	human	known	74_37	missense	36.00	15	9	SNP	1.000	A	A	52174919	G	A	52174919	3	1	143	1	0	0	0	0	1	0	0	0	6078	1290	45	3	680	3	FRMD6	14	52174919	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	13450138	52174919	55174621	151	36327											
EXD2	55218	genome.wustl.edu	37	chr14	69702803	69702803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgctttctccatgctcctGatggacagcccctctgcact	6	12	7	16	0	2	1	0	1	2	0	4	2	3	2	4	1	4	3	4	1	0	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr14:69702803G>A	ENST00000409018.3	+	6	1218	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	EXD2_ENST00000409675.1_Missense_Mutation_p.D239N|EXD2_ENST00000409949.1_Missense_Mutation_p.D239N|EXD2_ENST00000409014.1_Missense_Mutation_p.D239N|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.D239N|EXD2_ENST00000409242.1_Missense_Mutation_p.D239N|EXD2_ENST00000312994.5_Missense_Mutation_p.D364N	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	364							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCATGCTCCTGATGGACAGCC	0.438																																																	0													164	160	161					14																	69702803		2203	4300	6503	SO:0001583	missense	0			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1090G>A	14.37:g.69702803G>A	ENSP00000387331:p.Asp364Asn		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.D364N	ENST00000409018.3	37	c.1090	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.029919	0.97216	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.72505	-0.35;-0.66;-0.66;-0.66;-0.66;-0.35;-0.66	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.85588	0.5731	M	0.83012	2.62	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;P;P	0.66602	0.945;0.882;0.882	D	0.84761	0.0762	10	0.49607	T	0.09	-18.6274	20.6721	0.99693	0.0:0.0:1.0:0.0	.	364;239;239	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	N	364;239;239;239;239;364;239	ENSP00000387331:D364N;ENSP00000386915:D239N;ENSP00000386762:D239N;ENSP00000386632:D239N;ENSP00000386839:D239N;ENSP00000313140:D364N;ENSP00000392177:D239N	ENSP00000313140:D364N	D	+	1	0	EXD2	68772556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.542000	0.98086	2.894000	0.99253	0.591000	0.81541	GAT	EXD2	-	NULL	ENSG00000081177		0.438	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	-	0	41	0	G			69702803	1	tier1	-	no_errors	ENST00000312994	ensembl	human	known	74_37	missense	32.43	25	12	SNP	1.000	A	A	69702803	G	A	69702803	3	1	143	1	0	0	0	0	1	0	0	0	5314	1290	45	3	729	3	EXD2	14	69702803	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	17527884	69702803	37646737	152	36328											
NUMB	8650	genome.wustl.edu	37	chr14	73750834	73750834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcctctgcatagtggaagGcaactcattgatgcgtaggg	9	11	12	9	1	2	1	1	1	1	0	3	2	3	2	1	3	3	3	1	3	4	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr14:73750834G>T	ENST00000355058.3	-	10	1182	c.904C>A	c.(904-906)Cct>Act	p.P302T	NUMB_ENST00000556772.1_Missense_Mutation_p.P158T|NUMB_ENST00000557597.1_Missense_Mutation_p.P291T|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555238.1_Missense_Mutation_p.P302T|NUMB_ENST00000359560.3_Missense_Mutation_p.P291T|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.P291T|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Missense_Mutation_p.P302T|NUMB_ENST00000554546.1_Missense_Mutation_p.P291T|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000356296.4_Missense_Mutation_p.P302T|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron			P49757	NUMB_HUMAN	numb homolog (Drosophila)	302					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ATAGTGGAAGGCAACTCATTG	0.473																																																	0													151	134	140					14																	73750834		2203	4300	6503	SO:0001583	missense	0			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.904C>A	14.37:g.73750834G>T	ENSP00000347169:p.Pro302Thr		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.P302T	ENST00000355058.3	37	c.904	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678306	0.88542	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000535282	T;T;T;T;T;T;T;T;T	0.67698	-0.17;-0.28;0.26;0.24;0.48;0.24;0.26;-0.28;0.26	5.26	5.26	0.73747	NUMB domain (1);	0.000000	0.85682	D	0.000000	T	0.80727	0.4678	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	0.986;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.958;0.998;0.999;0.999;0.994;0.999	T	0.80681	-0.1274	10	0.54805	T	0.06	-12.2309	19.0619	0.93096	0.0:0.0:1.0:0.0	.	48;291;291;302;291;302	B1P2N9;B2RCI6;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;NUMB_HUMAN	T	291;302;291;302;158;302;291;302;291	ENSP00000452416:P291T;ENSP00000348644:P302T;ENSP00000451117:P291T;ENSP00000451300:P302T;ENSP00000451513:P158T;ENSP00000347169:P302T;ENSP00000352563:P291T;ENSP00000451625:P302T;ENSP00000441258:P291T	ENSP00000347169:P302T	P	-	1	0	NUMB	72820587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.615000	0.98356	2.744000	0.94065	0.650000	0.86243	CCT	NUMB	-	pfam_Numb_domain,pirsf_Numb/numb-like	ENSG00000133961		0.473	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1	-	0	76	0	G			73750834	-1	tier1	-	no_errors	ENST00000355058	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	73750834	G	T	73750834	3	4	143	1	0	0	0	0	1	0	0	0	10790	1203	42	3	1067	3	NUMB	14	73750834	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	4048031	73750834	33598706	153	36329											
ISM2	145501	genome.wustl.edu	37	chr14	77951088	77951088	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttctgcagctccagccGcaacggagtaacctctgggg	8	7	12	14	2	2	0	0	0	2	0	3	1	3	1	3	3	6	5	3	3	2	2	rs140785058		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr14:77951088G>T	ENST00000342219.4	-	2	372	c.316C>A	c.(316-318)Cgg>Agg	p.R106R	ISM2_ENST00000493585.1_Silent_p.R106R|ISM2_ENST00000393684.3_Silent_p.R18R|ISM2_ENST00000412904.1_Silent_p.R106R|ISM2_ENST00000429906.1_Intron	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	106						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						AGCTCCAGCCGCAACGGAGTA	0.617																																																	0													60	61	61					14																	77951088		2203	4300	6503	SO:0001819	synonymous_variant	0			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.316C>A	14.37:g.77951088G>T			A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.R106	ENST00000342219.4	37	c.316	CCDS9864.1	14																																																																																			ISM2	-	NULL	ENSG00000100593		0.617	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ISM2	HGNC	protein_coding	OTTHUMT00000351309.1		0	66	0	G	NM_182509		77951088	-1			no_errors	ENST00000342219	ensembl	human	known	74_37	silent	7.89	34	3	SNP	0.326	T	T	77951088	G	T	77951088	2	4	143	1	0	0	0	0	0	0	0	1	7888	1086	38	2		2	ISM2	14	77951088	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	4200254	77951088	29398452	154	36330											
CATSPERB	79820	genome.wustl.edu	37	chr14	92191436	92191436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttaccaagttttctaaGaaaagatacaacttgattat	16	13	5	7	0	1	3	0	1	1	2	1	4	1	3	2	0	3	1	2	0	8	7			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr14:92191436G>T	ENST00000256343.3	-	3	312	c.156C>A	c.(154-156)ttC>ttA	p.F52L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	52					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGTTTTCTAAGAAAAGATACA	0.308																																																	0													66	60	62					14																	92191436		2201	4295	6496	SO:0001583	missense	0			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.156C>A	14.37:g.92191436G>T	ENSP00000256343:p.Phe52Leu		A0AV51	Missense_Mutation	SNP	superfamily_Sialidases	p.F52L	ENST00000256343.3	37	c.156	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805387	0.31961	.	.	ENSG00000133962	ENST00000256343;ENST00000553329;ENST00000554560;ENST00000556661;ENST00000553676	T	0.40756	1.02	5.0	-0.543	0.11851	.	1.515350	0.04018	N	0.299345	T	0.27063	0.0663	L	0.36672	1.1	0.09310	N	1	B	0.15141	0.012	B	0.16289	0.015	T	0.07712	-1.0758	10	0.11794	T	0.64	-2.0295	0.9022	0.01277	0.2801:0.1594:0.3971:0.1635	.	52	Q9H7T0	CTSRB_HUMAN	L	52	ENSP00000256343:F52L	ENSP00000256343:F52L	F	-	3	2	CATSPERB	91261189	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.184000	0.09698	-0.014000	0.14175	0.650000	0.86243	TTC	CATSPERB	-	NULL	ENSG00000133962		0.308	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	-	0	29	0	G	NM_024764		92191436	-1	tier1	-	no_errors	ENST00000256343	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.001	T	T	92191436	G	T	92191436	3	4	143	1	0	0	0	0	1	0	0	0	2698	933	33	3	3294	3	CATSPERB	14	92191436	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	14240348	92191436	15158104	155	36331											
CLMN	79789	genome.wustl.edu	37	chr14	95690143	95690143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaaagccattaggattttgCcatcttgtatatcgacgaat	13	13	7	8	2	1	0	0	0	1	0	2	3	1	1	2	1	2	1	2	1	5	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr14:95690143C>T	ENST00000298912.4	-	3	307	c.194G>A	c.(193-195)gGc>gAc	p.G65D		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	65	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		TAGGATTTTGCCATCTTGTAT	0.418																																																	0													110	112	111					14																	95690143		2203	4300	6503	SO:0001583	missense	0			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.194G>A	14.37:g.95690143C>T	ENSP00000298912:p.Gly65Asp		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.G65D	ENST00000298912.4	37	c.194	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685548	0.88639	.	.	ENSG00000165959	ENST00000298912	D	0.95171	-3.63	4.97	4.97	0.65823	Calponin homology domain (5);	0.000000	0.41823	D	0.000804	D	0.98460	0.9487	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99814	1.1043	10	0.87932	D	0	.	18.1818	0.89780	0.0:1.0:0.0:0.0	.	65	Q96JQ2	CLMN_HUMAN	D	65	ENSP00000298912:G65D	ENSP00000298912:G65D	G	-	2	0	CLMN	94759896	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.316000	0.72857	2.451000	0.82905	0.561000	0.74099	GGC	CLMN	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000165959		0.418	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2		0	43	0	C			95690143	-1			no_errors	ENST00000298912	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	95690143	C	T	95690143	3	4	143	1	0	0	0	0	1	0	0	0	3549	739	26	3	2858	3	CLMN	14	95690143	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	3498707	95690143	11659397	156	36332											
RTL1	388015	genome.wustl.edu	37	chr14	101348367	101348367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggaagaatcttcatctccGcttgagagtactcaacctcg	10	12	8	11	2	4	2	2	1	2	2	6	4	4	3	2	1	2	2	2	1	4	4	rs187380673		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr14:101348367G>T	ENST00000534062.1	-	1	2817	c.2759C>A	c.(2758-2760)gCg>gAg	p.A920E	MIR127_ENST00000384876.1_RNA|MIR136_ENST00000385207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	920					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						CTTCATCTCCGCTTGAGAGTA	0.547																																																	0													29	28	28					14																	101348367		692	1591	2283	SO:0001583	missense	0				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.2759C>A	14.37:g.101348367G>T	ENSP00000435342:p.Ala920Glu		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.A920E	ENST00000534062.1	37	c.2759	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	g	0.460	-0.889425	0.02511	.	.	ENSG00000254656	ENST00000534062	T	0.42513	0.97	3.39	-0.485	0.12067	.	1.813340	0.03746	N	0.255713	T	0.24624	0.0597	N	0.19112	0.55	0.09310	N	1	B	0.21520	0.057	B	0.15484	0.013	T	0.15009	-1.0452	10	0.42905	T	0.14	.	0.3657	0.00371	0.3871:0.1903:0.2372:0.1854	.	920	E9PKS8	.	E	920	ENSP00000435342:A920E	ENSP00000435342:A920E	A	-	2	0	RTL1	100418120	0.056000	0.20664	0.041000	0.18516	0.055000	0.15305	0.691000	0.25467	-0.090000	0.12462	-0.417000	0.06048	GCG	RTL1	-	NULL	ENSG00000254656		0.547	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1		0	58	0	G	NM_001134888		101348367	-1			no_errors	ENST00000534062	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.042	T	T	101348367	G	T	101348367	3	4	143	1	0	0	0	0	1	0	0	0	13769	1087	38	2	1321	2	RTL1	14	101348367	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	5658224	101348367	6001173	157	36333											
DNAJC17	55192	genome.wustl.edu	37	chr15	41065993	41065993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccaaccaggaaatcttcaGagggttatccaccaggccaa	13	7	8	13	0	2	1	1	0	1	1	4	2	4	2	5	3	1	1	5	3	4	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr15:41065993G>C	ENST00000220496.4	-	10	754	c.724C>G	c.(724-726)Ctg>Gtg	p.L242V		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	242	RRM.				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)		GAAATCTTCAGAGGGTTATCC	0.587																																																	0													43	37	39					15																	41065993		2203	4300	6503	SO:0001583	missense	0			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.724C>G	15.37:g.41065993G>C	ENSP00000220496:p.Leu242Val			Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.L242V	ENST00000220496.4	37	c.724	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588503	0.66105	.	.	ENSG00000104129	ENST00000220496	T	0.24908	1.83	5.17	3.04	0.35103	Nucleotide-binding, alpha-beta plait (1);	0.148390	0.47093	D	0.000251	T	0.50684	0.1630	M	0.87682	2.9	0.58432	D	0.999997	D	0.89917	1.0	D	0.75020	0.985	T	0.49679	-0.8914	10	0.40728	T	0.16	.	9.4953	0.38984	0.1964:0.0:0.8036:0.0	.	242	Q9NVM6	DJC17_HUMAN	V	242	ENSP00000220496:L242V	ENSP00000220496:L242V	L	-	1	2	DNAJC17	38853285	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	1.272000	0.33109	0.587000	0.29643	0.561000	0.74099	CTG	DNAJC17	-	NULL	ENSG00000104129		0.587	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	HGNC	protein_coding	OTTHUMT00000252356.2	-	0	92	0	G	NM_018163		41065993	-1	tier1	-	no_errors	ENST00000220496	ensembl	human	known	74_37	missense	16.46	66	13	SNP	1.000	C	C	41065993	G	C	41065993	3	2	143	1	0	0	0	0	1	0	0	0	4650	933	33	5	198	5	DNAJC17	15	41065993	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09		41065993	61465399	158	36334											
CEP152	22995	genome.wustl.edu	37	chr15	49052391	49052391	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tttctgttctgccttcacaaGtgcttgatactctgccagct	6	16	7	12	0	4	1	1	1	3	0	4	1	4	1	2	0	5	3	2	0	2	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr15:49052391G>T	ENST00000380950.2	-	19	2822	c.2635C>A	c.(2635-2637)Ctt>Att	p.L879I	CEP152_ENST00000399334.3_Missense_Mutation_p.L879I|CEP152_ENST00000325747.5_Missense_Mutation_p.L786I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	879					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)		GCCTTCACAAGTGCTTGATAC	0.458																																																	0													150	149	150					15																	49052391		1923	4127	6050	SO:0001583	missense	0			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.2635C>A	15.37:g.49052391G>T	ENSP00000370337:p.Leu879Ile		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.L879I	ENST00000380950.2	37	c.2635	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	6.674	0.492877	0.12702	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.52983	0.64;0.65;0.65	4.66	1.57	0.23409	.	1.046430	0.07436	N	0.896475	T	0.37999	0.1024	L	0.51422	1.61	0.09310	N	1	B;B;P	0.37864	0.302;0.231;0.61	B;B;B	0.33620	0.167;0.082;0.154	T	0.25916	-1.0118	10	0.37606	T	0.19	0.802	5.7933	0.18373	0.1658:0.0:0.6045:0.2298	.	786;879;879	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	I	879;786;879	ENSP00000370337:L879I;ENSP00000321000:L786I;ENSP00000382271:L879I	ENSP00000321000:L786I	L	-	1	0	CEP152	46839683	0.000000	0.05858	0.008000	0.14137	0.593000	0.36681	0.777000	0.26718	0.576000	0.29452	0.655000	0.94253	CTT	CEP152	-	NULL	ENSG00000103995		0.458	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1		0	63	0	G	NM_014985		49052391	-1			no_errors	ENST00000380950	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.000	T	T	49052391	G	T	49052391	3	4	143	1	0	0	0	0	1	0	0	0	3255	1029	36	3	2361	3	CEP152	15	49052391	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	7986398	49052391	53479001	159	36335											
FAM63B	54629	genome.wustl.edu	37	chr15	59064348	59064348	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaagtggatccagtggaagGaagagaacacacccatcatc	15	6	10	10	0	2	1	2	0	0	1	4	5	3	4	2	3	1	0	2	3	4	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr15:59064348G>T	ENST00000559228.1	+	1	836	c.754G>T	c.(754-756)Gaa>Taa	p.E252*	RP11-30K9.6_ENST00000500929.2_lincRNA|FAM63B_ENST00000450403.2_Nonsense_Mutation_p.E252*			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	252										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						CCAGTGGAAGGAAGAGAACAC	0.572																																																	0													90	99	96					15																	59064348		2109	4236	6345	SO:0001587	stop_gained	0			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.754G>T	15.37:g.59064348G>T	ENSP00000452885:p.Glu252*		B2RTT8|Q9ULQ6	Nonsense_Mutation	SNP	pfam_DUF544	p.E252*	ENST00000559228.1	37	c.754	CCDS42046.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.813780	0.98504	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-26.7496	17.9721	0.89116	0.0:0.0:1.0:0.0	.	.	.	.	X	252	.	ENSP00000326194:E252X	E	+	1	0	FAM63B	56851640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.701000	0.98710	2.221000	0.72209	0.585000	0.79938	GAA	FAM63B	-	NULL	ENSG00000128923		0.572	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM63B	HGNC	protein_coding	OTTHUMT00000416230.1	-	0	59	0	G	NM_019092		59064348	1	tier1	-	no_errors	ENST00000559228	ensembl	human	known	74_37	nonsense	19.23	42	10	SNP	1.000	T	T	59064348	G	T	59064348	4	4	143	1	0	0	0	0	0	1	0	0	5619	1175	41	3	756	3	FAM63B	15	59064348	Nonsense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	10011957	59064348	43467044	160	36336											
ISL2	64843	genome.wustl.edu	37	chr15	76633522	76633522	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtggcgggcagtcccatCcgccatgagaacgccgtgca	7	6	14	14	4	0	1	0	1	0	1	2	2	2	1	4	3	2	2	4	3	1	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr15:76633522C>T	ENST00000290759.4	+	5	1003	c.843C>T	c.(841-843)atC>atT	p.I281I	RP11-685G9.2_ENST00000559539.1_RNA|RP11-685G9.4_ENST00000602530.1_lincRNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	281	LIM-binding domain (LID). {ECO:0000250}.				negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GCAGTCCCATCCGCCATGAGA	0.657																																					GBM(97;953 1391 16164 31496 36951)												0													28	29	29					15																	76633522		2197	4294	6491	SO:0001819	synonymous_variant	0			AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"Homeoboxes / LIM class"	18524	protein-coding gene	gene with protein product		609481	"ISL2 transcription factor, LIM/homeodomain, (islet-2)"				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.843C>T	15.37:g.76633522C>T			B3KM37	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P194S	ENST00000290759.4	37	c.580	CCDS10290.1	15																																																																																			ISL2	-	NULL	ENSG00000159556		0.657	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL2	HGNC	protein_coding	OTTHUMT00000289779.1		0	52	0	C			76633522	1			no_errors	ENST00000558656	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	76633522	C	T	76633522	2	4	143	1	0	0	0	0	0	0	0	1	7884	845	30	3		3	ISL2	15	76633522	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	17569174	76633522	25897870	161	36337											
RAB11FIP3	9727	genome.wustl.edu	37	chr16	560667	560667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctttcaagagcaaacGccctggaggagcagctgaag	11	8	12	10	1	1	2	1	1	0	1	1	4	1	4	2	2	5	3	2	2	3	2	rs146319300		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr16:560667G>A	ENST00000262305.4	+	9	1895	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.A548T|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.A207T	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	503	ARF-binding domain (ABD).				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AAGAGCAAACGCCCTGGAGGA	0.607													G|||	1	0.000199681	0	0	5008	,	,		18137	0		0	False		,,,				2504	0.001				Melanoma(160;2366 2595 4474 8099)												0								G	THR/ALA,THR/ALA	0,4400		0,0,2200	39	37	38		619,1507	5.2	1	16	dbSNP_134	38	2,8590	1.2+/-3.3	0,2,4294	no	missense,missense	RAB11FIP3	NM_001142272.1,NM_014700.3	58,58	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	207/461,503/757	560667	2,12990	2200	4296	6496	SO:0001583	missense	0			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1507G>A	16.37:g.560667G>A	ENSP00000262305:p.Ala503Thr		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom	p.A548T	ENST00000262305.4	37	c.1642	CCDS32351.1	16	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422054	0.25639	0.0	2.33E-4	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585;ENST00000450428;ENST00000448401	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.72415	0.3457	L	0.48362	1.52	0.80722	D	1	D;D;D	0.89917	1.0;0.981;0.998	D;P;P	0.67548	0.952;0.574;0.739	T	0.68610	-0.5363	8	0.30854	T	0.27	-33.0937	17.6777	0.88235	0.0:0.0:1.0:0.0	.	548;207;503	O75154-3;O75154-2;O75154	.;.;RFIP3_HUMAN	T	503;548;424;207;207	.	ENSP00000262305:A503T	A	+	1	0	RAB11FIP3	500668	1.000000	0.71417	0.984000	0.44739	0.306000	0.27790	9.237000	0.95368	2.581000	0.87130	0.655000	0.94253	GCC	RAB11FIP3	-	NULL	ENSG00000090565		0.607	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	RAB11FIP3	HGNC	protein_coding	OTTHUMT00000109066.4		0	25	0	G	NM_014700		560667	1			no_errors	ENST00000457159	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	A	A	560667	G	A	560667	3	1	143	1	0	0	0	0	1	0	0	0	12940	1087	38	1	1560	1	RAB11FIP3	16	560667	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09		560667	89794086	162	36338											
MKL2	57496	genome.wustl.edu	37	chr16	14311145	14311145	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttaaagaagcaattatagGcaagactctaaaaatttact	18	12	6	5	0	1	2	0	0	1	2	1	2	1	2	0	1	2	3	0	1	11	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr16:14311145G>T	ENST00000341243.5	+	5	481		c.e5+1		MKL2_ENST00000573051.1_Splice_Site|MKL2_ENST00000572567.1_Splice_Site|MKL2_ENST00000574045.1_Splice_Site|MKL2_ENST00000571589.1_Splice_Site|MKL2_ENST00000318282.5_Splice_Site			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2						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						GCAATTATAGGCAAGACTCTA	0.363																																																	0													92	108	103					16																	14311145		2197	4300	6497	SO:0001630	splice_region_variant	0			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.481+1G>T	16.37:g.14311145G>T			A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Splice_Site	SNP	-	e5+1	ENST00000341243.5	37	c.481+1		16	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751993	0.89753	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2924	0.94105	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MKL2	14218646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.878000	0.98634	0.650000	0.86243	.	MKL2	-	-	ENSG00000186260		0.363	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding			0	61	0	G	NM_014048	Intron	14311145	1			no_errors	ENST00000341243	ensembl	human	known	74_37	splice_site	8.33	66	6	SNP	1.000	T	T	14311145	G	T	14311145	5	4	143	1	0	0	0	0	0	0	1	0	9640	1217	42	3	533	3	MKL2	16	14311145	Splice_Site	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	13750478	14311145	76043608	163	36339											
ABCC1	4363	genome.wustl.edu	37	chr16	16162052	16162052	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctacgtgaccattgacGagaacaacatcctggatgcc	11	8	9	13	3	1	3	0	2	1	1	2	5	2	4	4	1	4	0	4	1	3	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr16:16162052G>T	ENST00000399410.3	+	13	1892	c.1717G>T	c.(1717-1719)Gag>Tag	p.E573*	ABCC1_ENST00000346370.5_Nonsense_Mutation_p.E573*|ABCC1_ENST00000351154.5_Nonsense_Mutation_p.E573*|ABCC1_ENST00000399408.2_Nonsense_Mutation_p.E573*|ABCC1_ENST00000349029.5_Nonsense_Mutation_p.E573*|ABCC1_ENST00000345148.5_Nonsense_Mutation_p.E573*	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	573	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.E573K(1)		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)	GACCATTGACGAGAACAACAT	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)											191	187	188					16																	16162052		2125	4238	6363	SO:0001587	stop_gained	0			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.1717G>T	16.37:g.16162052G>T	ENSP00000382342:p.Glu573*		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.E573*	ENST00000399410.3	37	c.1717	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119287	0.77323	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	.	.	.	4.46	-8.91	0.00778	.	0.699813	0.14910	N	0.291272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-1.5166	16.9821	0.86331	0.6509:0.0:0.3491:0.0	.	.	.	.	X	573;573;573;573;573;573;247	.	ENSP00000263014:E573X	E	+	1	0	ABCC1	16069553	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.809000	0.04510	-2.893000	0.00314	-1.836000	0.00589	GAG	ABCC1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	ENSG00000103222		0.547	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1		0	47	0	G	NM_004996		16162052	1			no_errors	ENST00000399408	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	0.011	T	T	16162052	G	T	16162052	4	4	143	1	0	0	0	0	0	1	0	0	49	1059	37	2	1767	2	ABCC1	16	16162052	Nonsense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	1850907	16162052	74192701	164	36340											
ACSM5	54988	genome.wustl.edu	37	chr16	20448395	20448395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatcctgagaagacagctGcatcagaacaaggggacttt	15	7	10	9	0	1	3	1	1	0	3	2	5	2	4	1	2	3	2	1	2	4	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr16:20448395G>T	ENST00000331849.4	+	11	1477	c.1330G>T	c.(1330-1332)Gca>Tca	p.A444S		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	444					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						GAAGACAGCTGCATCAGAACA	0.507																																																	0													117	111	113					16																	20448395		2203	4300	6503	SO:0001583	missense	0				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.1330G>T	16.37:g.20448395G>T	ENSP00000327916:p.Ala444Ser		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A444S	ENST00000331849.4	37	c.1330	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	G	2.517	-0.311555	0.05422	.	.	ENSG00000183549	ENST00000331849	T	0.40225	1.04	5.15	1.77	0.24775	AMP-dependent synthetase/ligase (1);	0.565592	0.17072	N	0.188139	T	0.24967	0.0606	L	0.31420	0.93	0.09310	N	1	B	0.10296	0.003	B	0.24155	0.051	T	0.23084	-1.0198	10	0.11485	T	0.65	-2.8661	5.369	0.16129	0.1772:0.0:0.5765:0.2464	.	444	Q6NUN0	ACSM5_HUMAN	S	444	ENSP00000327916:A444S	ENSP00000327916:A444S	A	+	1	0	ACSM5	20355896	0.000000	0.05858	0.001000	0.08648	0.460000	0.32559	0.027000	0.13621	0.610000	0.30035	-0.355000	0.07637	GCA	ACSM5	-	pfam_AMP-dep_Synth/Lig	ENSG00000183549		0.507	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	-	0	91	0	G	NM_017888		20448395	1	tier1	-	no_errors	ENST00000331849	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.000	T	T	20448395	G	T	20448395	3	4	143	1	0	0	0	0	1	0	0	0	187	1319	46	3	1368	3	ACSM5	16	20448395	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	4286343	20448395	69906358	165	36341											
RBBP6	5930	genome.wustl.edu	37	chr16	24583538	24583538	+	Silent	SNP	T	T	C	0	1	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	acccgaagccacagtagcagTgccagctcagcagaaagtca	14	4	10	13	1	2	1	2	0	0	1	2	2	2	1	3	0	5	4	3	0	3	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr16:24583538T>C	ENST00000319715.4	+	18	5583	c.5151T>C	c.(5149-5151)agT>agC	p.S1717S	RBBP6_ENST00000381039.3_Silent_p.S877S|RBBP6_ENST00000348022.2_Silent_p.S1683S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1717					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)		ACAGTAGCAGTGCCAgctcag	0.483																																																	0													50	50	50					16																	24583538		2197	4300	6497	SO:0001819	synonymous_variant	0				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.5151T>C	16.37:g.24583538T>C			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.S1717	ENST00000319715.4	37	c.5151	CCDS10621.1	16																																																																																			RBBP6	-	NULL	ENSG00000122257		0.483	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2		0	35	0	T	NM_006910		24583538	1			no_errors	ENST00000319715	ensembl	human	known	74_37	silent	7.32	38	3	SNP	1.000	C	C	24583538	T	C	24583538	2	2	143	1	0	0	0	0	0	0	0	1	13148	1693	59	4		4	RBBP6	16	24583538	Silent	SNP	T	TCGA-R6-A6L6-01B-11D-A33E-09	4135143	24583538	65771215	166	36342											
ZNF423	23090	genome.wustl.edu	37	chr16	49669911	49669911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccattgggggaggacgccGctgagctgcccgccagcttc	5	6	16	14	3	0	1	0	1	0	0	1	3	0	3	4	4	3	3	4	4	0	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr16:49669911G>A	ENST00000561648.1	-	4	3205	c.3152C>T	c.(3151-3153)gCg>gTg	p.A1051V	ZNF423_ENST00000562520.1_Missense_Mutation_p.A991V|ZNF423_ENST00000567169.1_Missense_Mutation_p.A934V|ZNF423_ENST00000262383.2_Missense_Mutation_p.A1051V|ZNF423_ENST00000535559.1_Missense_Mutation_p.A934V|ZNF423_ENST00000563137.2_Missense_Mutation_p.A991V|ZNF423_ENST00000562871.1_Missense_Mutation_p.A991V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1051					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)				GGAGGACGCCGCTGAGCTGCC	0.612																																																	0													48	46	46					16																	49669911		2199	4300	6499	SO:0001583	missense	0			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.3152C>T	16.37:g.49669911G>A	ENSP00000455426:p.Ala1051Val		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1051V	ENST00000561648.1	37	c.3152	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	G	9.990	1.230471	0.22542	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09163	3.01;3.05	5.1	5.1	0.69264	.	0.158032	0.56097	D	0.000037	T	0.06554	0.0168	N	0.08118	0	0.58432	D	0.999993	B	0.29766	0.256	B	0.25405	0.06	T	0.44528	-0.9322	9	.	.	.	-11.3181	18.5424	0.91033	0.0:0.0:1.0:0.0	.	1051	Q2M1K9	ZN423_HUMAN	V	1051;934	ENSP00000262383:A1051V;ENSP00000442321:A934V	.	A	-	2	0	ZNF423	48227412	1.000000	0.71417	0.806000	0.32338	0.115000	0.19883	7.494000	0.81503	2.390000	0.81377	0.561000	0.74099	GCG	ZNF423	-	NULL	ENSG00000102935		0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	-	0	44	0	G	NM_015069		49669911	-1	tier1	-	no_errors	ENST00000262383	ensembl	human	known	74_37	missense	26.83	30	11	SNP	1.000	A	A	49669911	G	A	49669911	3	1	143	1	0	0	0	0	1	0	0	0	17946	1087	38	1	722	1	ZNF423	16	49669911	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	25086373	49669911	40684842	167	36343											
HAS3	3038	genome.wustl.edu	37	chr16	69147378	69147378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgctggatccagcctGcaccatcgagatgcttcgag	8	9	11	13	2	0	1	0	0	0	1	3	4	1	2	3	1	4	3	3	1	0	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr16:69147378G>A	ENST00000306560.1	+	3	827	c.671G>A	c.(670-672)tGc>tAc	p.C224Y	HAS3_ENST00000219322.3_Missense_Mutation_p.C224Y|HAS3_ENST00000569188.1_Missense_Mutation_p.C224Y	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	224					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)		GATCCAGCCTGCACCATCGAG	0.612											OREG0023905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													112	101	104					16																	69147378		2198	4300	6498	SO:0001583	missense	0			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.671G>A	16.37:g.69147378G>A	ENSP00000304440:p.Cys224Tyr	1112	A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.C224Y	ENST00000306560.1	37	c.671	CCDS10871.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.111767	0.94339	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	D;T	0.84146	-1.81;0.36	5.65	5.65	0.86999	.	0.039308	0.85682	D	0.000000	D	0.90259	0.6954	L	0.55990	1.75	0.80722	D	1	D;P	0.53462	0.96;0.741	P;P	0.61003	0.882;0.717	D	0.90470	0.4452	10	0.87932	D	0	-14.9051	19.6915	0.96002	0.0:0.0:1.0:0.0	.	224;224	O00219;O00219-2	HAS3_HUMAN;.	Y	224	ENSP00000219322:C224Y;ENSP00000304440:C224Y	ENSP00000219322:C224Y	C	+	2	0	HAS3	67704879	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	2.800000	0.47900	2.824000	0.97209	0.655000	0.94253	TGC	HAS3	-	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	ENSG00000103044		0.612	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000268898.2	-	0	25	0	G	NM_138612		69147378	1	tier1	-	no_errors	ENST00000306560	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	A	A	69147378	G	A	69147378	3	1	143	1	0	0	0	0	1	0	0	0	6990	1319	46	3	677	3	HAS3	16	69147378	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	19477467	69147378	21207375	168	36344											
NFAT5	10725	genome.wustl.edu	37	chr16	69726422	69726422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacgttatctaatcaacaGcagcagcagcagcagcaaca	17	5	7	12	1	2	0	1	0	1	0	2	0	2	0	0	0	9	7	0	0	5	2	rs369235958		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr16:69726422G>A	ENST00000354436.2	+	12	2958	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	NFAT5_ENST00000566899.1_Silent_p.Q804Q|NFAT5_ENST00000432919.1_Silent_p.Q898Q|NFAT5_ENST00000567239.1_Silent_p.Q897Q|NFAT5_ENST00000349945.1_Silent_p.Q804Q|NFAT5_ENST00000393742.2_Silent_p.Q804Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	880	Poly-Gln.				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)	p.Q804Q(1)|p.Q898Q(1)		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						CTAATcaacagcagcagcagc	0.478																																																	2	Substitution - coding silent(2)	endometrium(2)											44	43	43					16																	69726422		2198	4300	6498	SO:0001819	synonymous_variant	0			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.2640G>A	16.37:g.69726422G>A			A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.Q898	ENST00000354436.2	37	c.2694	CCDS10881.1	16																																																																																			NFAT5	-	NULL	ENSG00000102908		0.478	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2		0	27	0	G	NM_138714		69726422	1			no_errors	ENST00000432919	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.988	A	A	69726422	G	A	69726422	2	1	143	1	0	0	0	0	0	0	0	1	10399	962	34	3		3	NFAT5	16	69726422	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	579044	69726422	20628331	169	36345											
DHX38	9785	genome.wustl.edu	37	chr16	72138403	72138403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtagtggctcggcgctcaGacctgaagctcatcgtcaca	9	8	12	12	3	3	2	3	1	0	1	5	2	3	2	1	3	1	4	1	3	2	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr16:72138403G>T	ENST00000268482.3	+	15	2538	c.2029G>T	c.(2029-2031)Gac>Tac	p.D677Y	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	677	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)				TCGGCGCTCAGACCTGAAGCT	0.617																																					Melanoma(97;711 1442 7855 13832 28836)												0													113	88	97					16																	72138403		2198	4300	6498	SO:0001583	missense	0			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.2029G>T	16.37:g.72138403G>T	ENSP00000268482:p.Asp677Tyr		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D677Y	ENST00000268482.3	37	c.2029	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894566	0.91962	.	.	ENSG00000140829	ENST00000268482	T	0.27720	1.65	4.87	4.87	0.63330	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86862	0.2030	10	0.87932	D	0	.	18.5547	0.91080	0.0:0.0:1.0:0.0	.	677	Q92620	PRP16_HUMAN	Y	677	ENSP00000268482:D677Y	ENSP00000268482:D677Y	D	+	1	0	DHX38	70695904	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.677000	0.91161	0.655000	0.94253	GAC	DHX38	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000140829		0.617	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	-	0	61	0	G	NM_014003		72138403	1	tier1	-	no_errors	ENST00000268482	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	72138403	G	T	72138403	3	4	143	1	0	0	0	0	1	0	0	0	4525	942	33	3	2083	3	DHX38	16	72138403	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	2411981	72138403	18216350	170	36346											
NUDT7	283927	genome.wustl.edu	37	chr16	77759424	77759424	+	Silent	SNP	G	G	A	0	0	1	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	aacaaatactccgtccttttGccattggtggctaaagaagg	12	11	9	9	1	0	1	0	0	0	1	2	1	2	1	3	3	3	1	3	3	6	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr16:77759424G>A	ENST00000268533.5	+	2	201	c.132G>A	c.(130-132)ttG>ttA	p.L44L	NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000564085.1_Silent_p.L44L|NUDT7_ENST00000568787.1_Silent_p.L44L|NUDT7_ENST00000437314.3_Silent_p.L44L	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	44	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CCGTCCTTTTGCCATTGGTGG	0.418																																																	0													111	110	110					16																	77759424		1851	4085	5936	SO:0001819	synonymous_variant	0			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"Nudix motif containing"	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.132G>A	16.37:g.77759424G>A			B4DLE5|H3BUB8	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.L44	ENST00000268533.5	37	c.132	CCDS42195.1	16																																																																																			NUDT7	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000140876		0.418	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT7	HGNC	protein_coding	OTTHUMT00000433873.1	-	0	51	0	G			77759424	1	tier1	-	no_errors	ENST00000268533	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.108	A	A	77759424	G	A	77759424	2	1	143	1	0	0	0	0	0	0	0	1	10783	1310	46	3		3	NUDT7	16	77759424	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	5621021	77759424	12595329	171	36347											
NLRP1	22861	genome.wustl.edu	37	chr17	5440193	5440193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgaagatgagcagctGaggtttctcctgctccaggg	7	11	13	10	0	2	4	0	3	2	1	4	4	3	4	2	2	4	5	2	2	1	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr17:5440193G>T	ENST00000572272.1	-	8	2937	c.2938C>A	c.(2938-2940)Cag>Aag	p.Q980K	NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000345221.3_Missense_Mutation_p.Q980K|NLRP1_ENST00000269280.4_Missense_Mutation_p.Q980K|NLRP1_ENST00000262467.5_Missense_Mutation_p.Q980K			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	980					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)				ATGAGCAGCTGAGGTTTCTCC	0.612																																																	0													80	66	71					17																	5440193		2203	4300	6503	SO:0001583	missense	0			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.2938C>A	17.37:g.5440193G>T	ENSP00000460475:p.Gln980Lys		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.Q980K	ENST00000572272.1	37	c.2938	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	G	7.492	0.650958	0.14516	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000345221;ENST00000537069	T;T;T;T	0.69806	-0.43;-0.43;-0.41;-0.41	3.37	-2.43	0.06522	.	0.739778	0.11126	N	0.596938	T	0.36413	0.0966	N	0.11201	0.11	0.09310	N	1	B;B;B;B	0.11235	0.002;0.001;0.004;0.001	B;B;B;B	0.17722	0.019;0.003;0.005;0.001	T	0.35425	-0.9789	10	0.02654	T	1	.	7.0092	0.24853	0.0:0.5195:0.2901:0.1904	.	246;980;980;980	F5H042;Q9C000;Q9C000-2;E9PE50	.;NALP1_HUMAN;.;.	K	980;980;980;980;246	ENSP00000442029:Q980K;ENSP00000262467:Q980K;ENSP00000269280:Q980K;ENSP00000324366:Q980K	ENSP00000262467:Q980K	Q	-	1	0	NLRP1	5380917	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.290000	0.08354	-0.125000	0.11703	-0.189000	0.12847	CAG	NLRP1	-	NULL	ENSG00000091592		0.612	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	-	0	26	0	G	NM_033004		5440193	-1	tier1	-	no_errors	ENST00000572272	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.000	T	T	5440193	G	T	5440193	3	4	143	1	0	0	0	0	1	0	0	0	10510	1299	45	3	1598	3	NLRP1	17	5440193	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09		5440193	75755017	172	36348											
RICH2	9912	genome.wustl.edu	37	chr17	12823123	12823123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacacttagccaagttggtgCtggacatggattcctcacga	11	10	10	10	1	1	0	1	0	0	0	2	3	2	2	2	3	3	2	2	3	3	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr17:12823123C>T	ENST00000379672.5	+	6	739	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	ARHGAP44_ENST00000340825.3_Silent_p.L147L|MIR1269B_ENST00000580405.1_RNA|ARHGAP44_ENST00000262444.9_Silent_p.L147L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	147	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CAAGTTGGTGCTGGACATGGA	0.388																																																	0													109	103	105					17																	12823123		1876	4110	5986	SO:0001819	synonymous_variant	0				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.439C>T	17.37:g.12823123C>T			A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.L147	ENST00000379672.5	37	c.439	CCDS45616.1	17																																																																																			ARHGAP44	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000006740		0.388	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP44	HGNC	protein_coding	OTTHUMT00000441566.1	-	0	81	0	C	NM_014859		12823123	1	tier1	-	no_errors	ENST00000379672	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	T	T	12823123	C	T	12823123	2	4	143	1	0	0	0	0	0	0	0	1	13402	796	28	3		3	RICH2	17	12823123	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	7382930	12823123	68372087	173	36349											
GRB7	2886	genome.wustl.edu	37	chr17	37902406	37902407	+	Frame_Shift_Ins	INS	-	-	C																															cggaacccccagggctttgtINScctctctttgtgccacctgc																										TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr17:37902406_37902407insC	ENST00000309156.4	+	14	1660_1661	c.1403_1404insC	c.(1402-1407)gtcctcfs	p.L469fs	GRB7_ENST00000445327.2_Frame_Shift_Ins_p.L492fs|GRB7_ENST00000394211.3_Frame_Shift_Ins_p.L469fs|GRB7_ENST00000309185.3_Frame_Shift_Ins_p.S439fs|GRB7_ENST00000394209.2_Frame_Shift_Ins_p.L469fs|GRB7_ENST00000394204.1_Frame_Shift_Ins_p.S439fs	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	469	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			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)			CAGGGCTTTGTCCTCTCTTTGT	0.594																																																	0																																										SO:0001589	frameshift_variant	0			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.1405dupC	17.37:g.37902408_37902408dupC	ENSP00000310771:p.Leu469fs		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Frame_Shift_Ins	INS	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.L492fs	ENST00000309156.4	37	c.1472_1473	CCDS11345.1	17																																																																																			GRB7	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000141738		0.594	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB7	HGNC	protein_coding	OTTHUMT00000257024.2		0	46	0	-	NM_005310		37902407	1	tier1		no_errors	ENST00000445327	ensembl	human	known	74_37	frame_shift_ins	10.53	68	8	INS	1.000:0.998	C	C	37902407	-	C	37902406	7	5	143	1	0	1	1	0	0	0	0	0	6786	1667	58	0	1453	0	GRB7	17	37902406	Frame_Shift_Ins	INS	-	TCGA-R6-A6L6-01B-11D-A33E-09	25079283	37902406	43292804	174	36350											
KRTAP3-2	83897	genome.wustl.edu	37	chr17	39156016	39156016	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcaggtgctgggcaggcaGactccacagcggcaggattt	8	6	17	10	1	0	1	0	0	0	1	1	2	1	2	1	6	2	5	1	6	0	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr17:39156016G>C	ENST00000391587.1	-	1	122	c.90C>G	c.(88-90)gtC>gtG	p.V30V		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	30	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				TGGGCAGGCAGACTCCACAGC	0.627																																																	0													73	83	79					17																	39156016		2203	4296	6499	SO:0001819	synonymous_variant	0			AJ406932	CCDS32644.1	17q21.2	2013-06-25			ENSG00000212900	ENSG00000212900		"Keratin associated proteins"	16779	protein-coding gene	gene with protein product						11279113	Standard	NM_031959		Approved	KAP3.2	uc002hvs.3	Q9BYR7	OTTHUMG00000133581	ENST00000391587.1:c.90C>G	17.37:g.39156016G>C				Silent	SNP	pfam_Keratin_matx	p.V30	ENST00000391587.1	37	c.90	CCDS32644.1	17																																																																																			KRTAP3-2	-	pfam_Keratin_matx	ENSG00000212900		0.627	KRTAP3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP3-2	HGNC	protein_coding	OTTHUMT00000257685.1	-	0	93	0	G			39156016	-1	tier1	-	no_errors	ENST00000391587	ensembl	human	known	74_37	silent	10.28	358	41	SNP	1.000	C	C	39156016	G	C	39156016	2	2	143	1	0	0	0	0	0	0	0	1	8574	929	33	5		5	KRTAP3-2	17	39156016	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	1253610	39156016	42039194	175	36351											
STAT5A	6776	genome.wustl.edu	37	chr17	40458274	40458274	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctcagggcagggtgccatttGccgtgcctgacaaagtgctg	7	9	14	11	1	1	1	1	1	0	0	1	1	1	1	3	2	4	2	3	2	1	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr17:40458274G>T	ENST00000345506.4	+	14	2131	c.1489G>T	c.(1489-1491)Gcc>Tcc	p.A497S	STAT5A_ENST00000590949.1_Missense_Mutation_p.A497S|STAT5A_ENST00000588868.1_Missense_Mutation_p.A466S|STAT5A_ENST00000452307.2_Missense_Mutation_p.A497S|STAT5A_ENST00000546010.2_Missense_Mutation_p.A467S|STAT5A_ENST00000587646.1_5'UTR	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	497					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)		GGTGCCATTTGCCGTGCCTGA	0.537																																																	0													93	82	86					17																	40458274		2203	4300	6503	SO:0001583	missense	0			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.1489G>T	17.37:g.40458274G>T	ENSP00000341208:p.Ala497Ser		Q1KLZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.A497S	ENST00000345506.4	37	c.1489	CCDS11424.1	17	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944232	0.34283	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.87809	-2.3;-2.3;-2.3	4.65	4.65	0.58169	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.271822	0.37761	N	0.001960	T	0.79167	0.4400	N	0.16266	0.395	0.35940	D	0.833138	B;B;B	0.14438	0.0;0.01;0.0	B;B;B	0.23150	0.012;0.044;0.008	T	0.76443	-0.2957	10	0.21014	T	0.42	-29.7269	17.8824	0.88844	0.0:0.0:1.0:0.0	.	467;468;497	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	S	497;467;468;497	ENSP00000341208:A497S;ENSP00000443107:A467S;ENSP00000400320:A497S	ENSP00000341208:A497S	A	+	1	0	STAT5A	37711800	0.925000	0.31364	0.998000	0.56505	0.991000	0.79684	2.027000	0.41078	2.293000	0.77203	0.561000	0.74099	GCC	STAT5A	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000126561		0.537	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1	-	0	49	0	G	NM_003152		40458274	1	tier1	-	no_errors	ENST00000345506	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.997	T	T	40458274	G	T	40458274	3	4	143	1	0	0	0	0	1	0	0	0	15315	1319	46	3	1535	3	STAT5A	17	40458274	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	1302258	40458274	40736936	176	36352											
G6PC3	92579	genome.wustl.edu	37	chr17	42153234	42153234	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagatagcctgccttgtGctggccatggggctgctggg	6	9	16	10	0	0	2	0	0	0	2	0	2	0	2	3	4	4	3	3	4	2	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr17:42153234G>T	ENST00000269097.4	+	6	1095	c.864G>T	c.(862-864)gtG>gtT	p.V288V		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	288					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCTGCCTTGTGCTGGCCATGG	0.622																																																	0													64	62	63					17																	42153234		2203	4300	6503	SO:0001819	synonymous_variant	0			BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.864G>T	17.37:g.42153234G>T			Q8WU15	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.V288	ENST00000269097.4	37	c.864	CCDS11476.1	17																																																																																			G6PC3	-	pirsf_Glucose-6-phosphatase	ENSG00000141349		0.622	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G6PC3	HGNC	protein_coding	OTTHUMT00000457675.1	-	0	77	0	G	NM_138387		42153234	1	tier1	-	no_errors	ENST00000269097	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.995	T	T	42153234	G	T	42153234	2	4	143	1	0	0	0	0	0	0	0	1	6169	1306	46	3		3	G6PC3	17	42153234	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	1694960	42153234	39041976	177	36353											
ABCA6	23460	genome.wustl.edu	37	chr17	67079107	67079107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacttttagctctagaatgTaatccttgccaagtttgttt	9	18	6	8	0	2	1	1	0	1	1	3	1	3	1	2	0	2	4	2	0	5	7			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr17:67079107T>C	ENST00000284425.2	-	36	4697	c.4523A>G	c.(4522-4524)tAc>tGc	p.Y1508C	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1508	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTCTAGAATGTAATCCTTGCC	0.413																																																	0													205	209	207					17																	67079107		2203	4300	6503	SO:0001583	missense	0			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.4523A>G	17.37:g.67079107T>C	ENSP00000284425:p.Tyr1508Cys		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y1508C	ENST00000284425.2	37	c.4523	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907331	0.72868	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.95690	-3.78	5.27	5.27	0.74061	ABC transporter-like (1);	0.000000	0.47852	D	0.000209	D	0.97645	0.9228	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98368	1.0552	10	0.87932	D	0	.	14.8217	0.70077	0.0:0.0:0.0:1.0	.	1508	Q8N139	ABCA6_HUMAN	C	1508;368	ENSP00000284425:Y1508C	ENSP00000284425:Y1508C	Y	-	2	0	ABCA6	64590702	1.000000	0.71417	0.998000	0.56505	0.768000	0.43524	7.043000	0.76572	2.340000	0.79590	0.528000	0.53228	TAC	ABCA6	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000154262		0.413	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0	61	0	T	NM_080284		67079107	-1	tier1	-	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	18.75	39	9	SNP	1.000	C	C	67079107	T	C	67079107	3	2	143	1	0	0	0	0	1	0	0	0	36	1638	57	4	346	4	ABCA6	17	67079107	Missense_Mutation	SNP	T	TCGA-R6-A6L6-01B-11D-A33E-09	24925873	67079107	14116103	178	36354											
ABCA6	23460	genome.wustl.edu	37	chr17	67081766	67081766	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaccatttcctcactacCtctccagcagttggctttgt	8	13	7	13	0	2	0	1	0	1	0	4	1	3	1	4	2	3	3	4	2	2	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr17:67081766C>A	ENST00000284425.2	-	31	4203	c.4029G>T	c.(4027-4029)gaG>gaT	p.E1343D	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1343	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCCTCACTACCTCTCCAGCAG	0.338																																																	0													93	82	85					17																	67081766		2203	4300	6503	SO:0001630	splice_region_variant	0			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.4029+1G>T	17.37:g.67081766C>A			Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1343D	ENST00000284425.2	37	c.4029	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967710	0.34754	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.94232	-3.38	4.66	3.69	0.42338	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.552015	0.16220	N	0.224083	D	0.90195	0.6935	L	0.33668	1.02	0.80722	D	1	B	0.30104	0.268	B	0.39339	0.297	D	0.85655	0.1285	9	.	.	.	.	12.2326	0.54497	0.0:0.917:0.0:0.083	.	1343	Q8N139	ABCA6_HUMAN	D	1343;203	ENSP00000284425:E1343D	.	E	-	3	2	ABCA6	64593361	1.000000	0.71417	0.999000	0.59377	0.053000	0.15095	3.961000	0.56759	1.323000	0.45263	-0.142000	0.14014	GAG	ABCA6	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154262		0.338	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1		0	23	0	C	NM_080284	Missense_Mutation	67081766	-1			no_errors	ENST00000284425	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	67081766	C	A	67081766	5	1	143	1	0	0	0	0	0	0	1	0	36	695	24	3	860	3	ABCA6	17	67081766	Splice_Site	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	2659	67081766	14113444	179	36355											
RECQL5	9400	genome.wustl.edu	37	chr17	73662603	73662603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactccggactcgccgctcaGggtcaaaaggaaaggtggta	11	7	13	10	3	2	0	2	0	0	0	4	2	3	2	2	5	1	2	2	5	5	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr17:73662603G>A	ENST00000317905.5	-	2	194	c.35C>T	c.(34-36)cCt>cTt	p.P12L	RECQL5_ENST00000423245.2_Missense_Mutation_p.P12L|RECQL5_ENST00000584999.1_Missense_Mutation_p.P12L|SAP30BP_ENST00000355423.3_5'Flank|SAP30BP_ENST00000584667.1_5'Flank|RECQL5_ENST00000340830.5_Missense_Mutation_p.P12L|RECQL5_ENST00000420326.2_Missense_Mutation_p.P12L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	12					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)			TCGCCGCTCAGGGTCAAAAGG	0.498								Other identified genes with known or suspected DNA repair function																																									0													77	72	74					17																	73662603		2203	4300	6503	SO:0001583	missense	0			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.35C>T	17.37:g.73662603G>A	ENSP00000317636:p.Pro12Leu		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.P12L	ENST00000317905.5	37	c.35	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211355	0.39102	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T;T	0.60424	0.19;0.5;0.82;0.8	5.54	0.847	0.18961	.	0.588543	0.17993	N	0.155149	T	0.42494	0.1205	L	0.43152	1.355	0.36865	D	0.88859	B;B;B	0.26195	0.144;0.003;0.001	B;B;B	0.19391	0.025;0.002;0.002	T	0.37384	-0.9708	10	0.51188	T	0.08	-1.8219	5.1634	0.15073	0.0888:0.3981:0.3847:0.1284	.	12;12;12	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	L	12	ENSP00000394820:P12L;ENSP00000317636:P12L;ENSP00000414933:P12L;ENSP00000341983:P12L	ENSP00000317636:P12L	P	-	2	0	RECQL5	71174198	0.989000	0.36119	0.998000	0.56505	0.896000	0.52359	0.842000	0.27627	0.335000	0.23614	0.655000	0.94253	CCT	RECQL5	-	NULL	ENSG00000108469		0.498	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	-	0	70	0	G	NM_004259		73662603	-1	tier1	-	no_errors	ENST00000317905	ensembl	human	known	74_37	missense	22.58	48	14	SNP	0.995	A	A	73662603	G	A	73662603	3	1	143	1	0	0	0	0	1	0	0	0	13248	1000	35	3	3103	3	RECQL5	17	73662603	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	6580837	73662603	7532607	180	36356											
QRICH2	84074	genome.wustl.edu	37	chr17	74286138	74286138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagctgctcctgcagttCaggaggtatggtccttttga	6	14	11	10	0	2	1	2	1	0	0	4	2	4	2	2	3	3	5	2	3	1	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr17:74286138C>T	ENST00000262765.5	-	5	3414	c.3235G>A	c.(3235-3237)Gaa>Aaa	p.E1079K		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1079										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						TCCTGCAGTTCAGGAGGTATG	0.458																																																	0													122	135	130					17																	74286138		2203	4300	6503	SO:0001583	missense	0			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.3235G>A	17.37:g.74286138C>T	ENSP00000262765:p.Glu1079Lys		A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.E1079K	ENST00000262765.5	37	c.3235	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857518	0.32791	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.47869	3.03;0.83	4.47	4.47	0.54385	.	.	.	.	.	T	0.30479	0.0766	N	0.08118	0	0.25826	N	0.984227	B;B	0.32467	0.372;0.372	B;B	0.32677	0.15;0.114	T	0.26744	-1.0094	9	0.66056	D	0.02	-13.7778	12.8348	0.57767	0.0:1.0:0.0:0.0	.	1079;1079	B5MD94;Q9H0J4	.;QRIC2_HUMAN	K	1079;87;1079	ENSP00000262765:E1079K;ENSP00000394461:E87K	ENSP00000262765:E1079K	E	-	1	0	QRICH2	71797733	0.982000	0.34865	0.941000	0.38009	0.046000	0.14306	3.269000	0.51592	2.478000	0.83669	0.655000	0.94253	GAA	QRICH2	-	NULL	ENSG00000129646		0.458	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	-	0	22	0	C	NM_032134		74286138	-1	tier1	-	no_errors	ENST00000262765	ensembl	human	known	74_37	missense	57.14	6	8	SNP	0.953	T	T	74286138	C	T	74286138	3	4	143	1	0	0	0	0	1	0	0	0	12925	835	29	3	1816	3	QRICH2	17	74286138	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	623535	74286138	6909072	181	36357											
SLC16A3	9123	genome.wustl.edu	37	chr17	80196594	80196594	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcaaactcctggatgcGacccacgtctacatgtacgt	10	8	10	13	3	1	0	0	0	1	0	2	2	2	1	2	2	4	3	2	2	3	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr17:80196594G>T	ENST00000581287.1	+	4	3462	c.1140G>T	c.(1138-1140)gcG>gcT	p.A380A	SLC16A3_ENST00000582743.1_Silent_p.A380A|SLC16A3_ENST00000392339.1_Silent_p.A380A|SLC16A3_ENST00000392341.1_Silent_p.A380A	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	380					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	TCCTGGATGCGACCCACGTCT	0.627																																					Pancreas(52;652 1135 19190 37282 52456)												0													38	29	32					17																	80196594		2196	4297	6493	SO:0001819	synonymous_variant	0			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"Solute carriers"	10924	protein-coding gene	gene with protein product		603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.1140G>T	17.37:g.80196594G>T			B3KXG8|Q2M1P8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.A380	ENST00000581287.1	37	c.1140	CCDS11804.1	17																																																																																			SLC16A3	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000141526		0.627	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A3	HGNC	protein_coding	OTTHUMT00000443498.1		0	27	0	G	NM_004207		80196594	1			no_errors	ENST00000392339	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.866	T	T	80196594	G	T	80196594	2	4	143	1	0	0	0	0	0	0	0	1	14454	1045	37	2		2	SLC16A3	17	80196594	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	5910456	80196594	998616	182	36358											
USP14	9097	genome.wustl.edu	37	chr18	197625	197625	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacattacaggatgctaatGaatgttggatacaaatgatg	15	13	9	4	0	0	2	0	2	0	0	0	4	0	4	0	2	4	2	0	2	6	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr18:197625G>T	ENST00000261601.7	+	8	695	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	USP14_ENST00000400266.3_Nonsense_Mutation_p.E191*|USP14_ENST00000383589.2_Nonsense_Mutation_p.E156*|USP14_ENST00000582707.1_Nonsense_Mutation_p.E167*	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	202	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)				GGATGCTAATGAATGTTGGAT	0.328																																																	0													120	127	125					18																	197625		2203	4299	6502	SO:0001587	stop_gained	0			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.604G>T	18.37:g.197625G>T	ENSP00000261601:p.Glu202*		J3QRZ5|Q53XY5	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.E202*	ENST00000261601.7	37	c.604	CCDS32780.1	18	.	.	.	.	.	.	.	.	.	.	G	37	6.608290	0.97701	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.6463	19.8765	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	X	202;167;191	.	ENSP00000261601:E202X	E	+	1	0	USP14	187625	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.262000	0.95591	2.695000	0.91970	0.650000	0.86243	GAA	USP14	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000101557		0.328	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP14	HGNC	protein_coding	OTTHUMT00000440305.3		0	32	0	G	NM_005151		197625	1			no_errors	ENST00000261601	ensembl	human	known	74_37	nonsense	9.38	29	3	SNP	1.000	T	T	197625	G	T	197625	4	4	143	1	0	0	0	0	0	1	0	0	17094	1291	45	3	634	3	USP14	18	197625	Nonsense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09		197625	77879623	183	36359											
L3MBTL4	91133	genome.wustl.edu	37	chr18	6301916	6301916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattaccgtgactcaaagggGttgtgctatccttgggcttc	8	13	11	9	1	1	1	1	1	0	0	3	1	2	1	2	3	2	3	2	3	4	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr18:6301916G>T	ENST00000284898.6	-	4	313	c.113C>A	c.(112-114)aCc>aAc	p.T38N	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.T38N|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.T38N|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.T38N	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	38					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACTCAAAGGGGTTGTGCTATC	0.353																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													289	275	279					18																	6301916		2203	4300	6503	SO:0001583	missense	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.113C>A	18.37:g.6301916G>T	ENSP00000284898:p.Thr38Asn		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.T38N	ENST00000284898.6	37	c.113	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	.	2.863	-0.235694	0.05944	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.14516	2.5;2.5;2.5;2.72	5.0	3.13	0.36017	.	1.768200	0.03328	N	0.192898	T	0.12646	0.0307	L	0.38175	1.15	0.09310	N	1	B	0.24675	0.109	B	0.23018	0.043	T	0.41378	-0.9512	10	0.08599	T	0.76	.	9.6776	0.40050	0.0863:0.1424:0.7713:0.0	.	38	Q8NA19	LMBL4_HUMAN	N	38	ENSP00000382976:T38N;ENSP00000318543:T38N;ENSP00000284898:T38N;ENSP00000382975:T38N	ENSP00000284898:T38N	T	-	2	0	L3MBTL4	6291916	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.861000	0.01654	0.215000	0.20761	-1.128000	0.01989	ACC	L3MBTL4	-	NULL	ENSG00000154655		0.353	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0	86	0	G	NM_173464		6301916	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	missense	6.93	94	7	SNP	0.000	T	T	6301916	G	T	6301916	3	4	143	1	0	0	0	0	1	0	0	0	8622	1261	44	3	1826	3	L3MBTL4	18	6301916	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	6104291	6301916	71775332	184	36360											
MEP1B	4225	genome.wustl.edu	37	chr18	29787385	29787385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtgatcggccaacgaatgGatttcagtgactctgatctc	10	12	10	9	2	3	3	1	3	2	0	5	5	3	4	1	2	1	0	1	2	2	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr18:29787385G>T	ENST00000269202.6	+	8	765	c.718G>T	c.(718-720)Gat>Tat	p.D240Y	MEP1B_ENST00000581447.1_Missense_Mutation_p.D240Y	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	240	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCAACGAATGGATTTCAGTGA	0.388																																																	0													56	53	54					18																	29787385		1915	4127	6042	SO:0001583	missense	0			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.718G>T	18.37:g.29787385G>T	ENSP00000269202:p.Asp240Tyr		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.D240Y	ENST00000269202.6	37	c.718	CCDS45846.1	18	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081130	0.76528	.	.	ENSG00000141434	ENST00000269202	T	0.64803	-0.12	5.75	5.75	0.90469	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.044265	0.85682	D	0.000000	T	0.76870	0.4048	L	0.53249	1.67	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.77595	-0.2529	10	0.87932	D	0	-29.3307	19.9319	0.97122	0.0:0.0:1.0:0.0	.	240	Q16820	MEP1B_HUMAN	Y	240	ENSP00000269202:D240Y	ENSP00000269202:D240Y	D	+	1	0	MEP1B	28041383	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.728000	0.93425	0.591000	0.81541	GAT	MEP1B	-	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A	ENSG00000141434		0.388	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MEP1B	HGNC	protein_coding	OTTHUMT00000447755.1		0	37	0	G	NM_005925		29787385	1			no_errors	ENST00000269202	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	29787385	G	T	29787385	3	4	143	1	0	0	0	0	1	0	0	0	9514	1174	41	3	748	3	MEP1B	18	29787385	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	23485469	29787385	48289863	185	36361											
SYT4	6860	genome.wustl.edu	37	chr18	40854171	40854171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacttcatttttatcatctgCtccaaacttctttttgctat	8	21	2	10	0	4	0	2	0	2	0	5	0	5	0	1	0	4	2	1	0	4	9			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr18:40854171C>T	ENST00000255224.3	-	2	591	c.223G>A	c.(223-225)Gca>Aca	p.A75T	SYT4_ENST00000590752.1_Missense_Mutation_p.A57T|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	75					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						TTATCATCTGCTCCAAACTTC	0.368																																					NSCLC(85;81 1419 2855 22820 35912)												0													109	105	106					18																	40854171		2203	4300	6503	SO:0001583	missense	0			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.223G>A	18.37:g.40854171C>T	ENSP00000255224:p.Ala75Thr		B4DEU3|Q9P2K4	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.A75T	ENST00000255224.3	37	c.223	CCDS11922.1	18	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605401	0.46423	.	.	ENSG00000132872	ENST00000255224	T	0.37584	1.19	5.86	5.86	0.93980	.	0.259107	0.43579	D	0.000541	T	0.35970	0.0950	L	0.51422	1.61	0.36081	D	0.842768	B;B	0.24963	0.115;0.115	B;B	0.23275	0.045;0.045	T	0.31668	-0.9935	10	0.15066	T	0.55	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	57;75	B4DEU3;Q9H2B2	.;SYT4_HUMAN	T	75	ENSP00000255224:A75T	ENSP00000255224:A75T	A	-	1	0	SYT4	39108169	1.000000	0.71417	0.990000	0.47175	0.805000	0.45488	5.510000	0.67018	2.937000	0.99478	0.650000	0.86243	GCA	SYT4	-	NULL	ENSG00000132872		0.368	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	-	0	42	0	C	NM_020783		40854171	-1	tier1	-	no_errors	ENST00000255224	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	T	T	40854171	C	T	40854171	3	4	143	1	0	0	0	0	1	0	0	0	15523	797	28	3	1066	3	SYT4	18	40854171	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	11066786	40854171	37223077	186	36362											
KATNAL2	83473	genome.wustl.edu	37	chr18	44593476	44593476	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	agttagtcaaagaagctgttGtgtatcctataagggtaagg	13	12	12	4	0	1	1	1	0	0	1	2	1	2	1	1	2	1	5	1	2	7	6			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr18:44593476G>A	ENST00000245121.5	+	8	789	c.595G>A	c.(595-597)Gtg>Atg	p.V199M	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.V271M	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						AGAAGCTGTTGTGTATCCTAT	0.423																																																	0													104	94	97					18																	44593476		2203	4300	6503	SO:0001583	missense	0			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.595G>A	18.37:g.44593476G>A	ENSP00000245121:p.Val199Met			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V199M	ENST00000245121.5	37	c.595	CCDS32828.1	18	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123434	0.77436	.	.	ENSG00000167216	ENST00000356157;ENST00000245121;ENST00000454462	D;D	0.94966	-3.57;-3.57	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.96608	0.8893	M	0.67569	2.06	0.80722	D	1	.	.	.	.	.	.	D	0.96459	0.9340	8	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	M	271;199;39	ENSP00000348478:V271M;ENSP00000245121:V199M	ENSP00000245121:V199M	V	+	1	0	KATNAL2	42847474	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	8.990000	0.93510	2.826000	0.97356	0.655000	0.94253	GTG	KATNAL2	-	superfamily_P-loop_NTPase	ENSG00000167216		0.423	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	KATNAL2	HGNC	protein_coding	OTTHUMT00000446138.2	-	0	69	0	G	NM_031303		44593476	1	tier1	-	no_errors	ENST00000245121	ensembl	human	known	74_37	missense	16.67	60	12	SNP	1.000	A	A	44593476	G	A	44593476	3	1	143	1	0	0	0	0	1	0	0	0	8013	1377	48	3	621	3	KATNAL2	18	44593476	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	3739305	44593476	33483772	187	36363											
PQLC1	80148	genome.wustl.edu	37	chr18	77679354	77679354	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccaggacgcactgcacGtagtccgagaagctgctcca	11	5	12	13	3	0	1	0	0	0	1	2	3	2	2	3	2	3	5	3	2	3	1	rs570486466		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr18:77679354G>T	ENST00000397778.2	-	5	620	c.438C>A	c.(436-438)taC>taA	p.Y146*	PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000357575.4_Nonsense_Mutation_p.Y128*|PQLC1_ENST00000409073.1_Nonsense_Mutation_p.Y63*	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	146						integral component of membrane (GO:0016021)		p.Y146*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CGCACTGCACGTAGTCCGAGA	0.622																																																	1	Substitution - Nonsense(1)	kidney(1)											82	67	72					18																	77679354		2203	4300	6503	SO:0001587	stop_gained	0			AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.438C>A	18.37:g.77679354G>T	ENSP00000380880:p.Tyr146*		B7Z7D9|G5E989|Q9H6D0	Nonsense_Mutation	SNP	smart_CTNS	p.Y146*	ENST00000397778.2	37	c.438	CCDS12020.1	18	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725947	0.69074	.	.	ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575	.	.	.	4.97	-1.26	0.09376	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8849	7.6774	0.28494	0.4875:0.1096:0.4029:0.0	.	.	.	.	X	146;63;128	.	ENSP00000350188:Y128X	Y	-	3	2	PQLC1	75780342	0.002000	0.14202	0.965000	0.40720	0.744000	0.42396	-1.209000	0.03002	-0.535000	0.06307	-0.797000	0.03246	TAC	PQLC1	-	NULL	ENSG00000122490		0.622	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PQLC1	HGNC	protein_coding	OTTHUMT00000256434.1		0	58	0	G	NM_025078		77679354	-1			no_errors	ENST00000397778	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	0.995	T	T	77679354	G	T	77679354	4	4	143	1	0	0	0	0	0	1	0	0	12460	1140	40	2	385	2	PQLC1	18	77679354	Nonsense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	33085878	77679354	397894	188	36364											
CCDC94	55702	genome.wustl.edu	37	chr19	4262016	4262016	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttggaggaagccagaaagCgaagactgctggaggactcc	12	6	15	8	1	0	2	0	0	0	2	1	7	1	6	2	4	3	2	2	4	3	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:4262016C>T	ENST00000262962.7	+	6	681	c.613C>T	c.(613-615)Cga>Tga	p.R205*		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	205										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCCAGAAAGCGAAGACTGCT	0.622																																																	0													86	74	78					19																	4262016		2203	4300	6503	SO:0001587	stop_gained	0			AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.613C>T	19.37:g.4262016C>T	ENSP00000262962:p.Arg205*		O75270|Q9H862|Q9NW16	Nonsense_Mutation	SNP	pfam_CWC16	p.R205*	ENST00000262962.7	37	c.613	CCDS12124.1	19	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406541	0.62399	.	.	ENSG00000105248	ENST00000262962	.	.	.	4.47	-0.395	0.12431	.	0.254049	0.36519	N	0.002555	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-16.0819	3.0543	0.06179	0.4526:0.311:0.1475:0.0889	.	.	.	.	X	205	.	ENSP00000262962:R205X	R	+	1	2	CCDC94	4213016	0.002000	0.14202	0.000000	0.03702	0.098000	0.18820	1.006000	0.29847	-0.092000	0.12417	-0.552000	0.04208	CGA	CCDC94	-	pfam_CWC16	ENSG00000105248		0.622	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC94	HGNC	protein_coding	OTTHUMT00000458007.2		0	53	0	C	NM_018074		4262016	1			no_errors	ENST00000262962	ensembl	human	known	74_37	nonsense	8.33	33	3	SNP	0.000	T	T	4262016	C	T	4262016	4	4	143	1	0	0	0	0	0	1	0	0	2880	760	27	1	635	1	CCDC94	19	4262016	Nonsense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09		4262016	54866967	189	36365											
OR7E24	26648	genome.wustl.edu	37	chr19	9362188	9362188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	accgaatcatcatgaacccaCgcctctgtggcttcttaatc	10	11	6	14	2	4	1	2	1	2	0	5	2	4	1	3	1	1	1	3	1	3	2	rs201669790		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:9362188C>T	ENST00000456448.1	+	1	583	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R157C(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CATGAACCCACGCCTCTGTGG	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)						C	CYS/ARG	0,4382		0,0,2191	129	142	138		469	-4.8	0	19		138	2,8586		0,2,4292	yes	missense	OR7E24	NM_001079935.1	180	0,2,6483	TT,TC,CC		0.0233,0.0,0.0154	benign	157/340	9362188	2,12968	2191	4294	6485	SO:0001583	missense	0			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.469C>T	19.37:g.9362188C>T	ENSP00000387523:p.Arg157Cys		B9EJD9|Q9UPJ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R157C	ENST00000456448.1	37	c.469	CCDS45955.1	19	.	.	.	.	.	.	.	.	.	.	N	1.408	-0.576377	0.03882	0.0	2.33E-4	ENSG00000237521	ENST00000456448	T	0.43294	0.95	2.39	-4.79	0.03200	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.24661	0.0598	L	0.33293	1	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.15178	-1.0446	9	0.42905	T	0.14	.	3.6635	0.08247	0.3628:0.24:0.0:0.3972	.	157	Q6IFN5	O7E24_HUMAN	C	157	ENSP00000387523:R157C	ENSP00000387523:R157C	R	+	1	0	OR7E24	9223188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.599000	0.00893	-1.556000	0.01695	-2.560000	0.00174	CGC	OR7E24	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000237521		0.453	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7E24	HGNC	protein_coding	OTTHUMT00000449006.1	-	0	79	0	C			9362188	1	tier1	rs201669790	no_errors	ENST00000456448	ensembl	human	known	74_37	missense	29.23	46	19	SNP	0.000	T	T	9362188	C	T	9362188	3	4	143	1	0	0	0	0	1	0	0	0	11260	536	19	1	471	1	OR7E24	19	9362188	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	5100172	9362188	49766795	190	36366											
CCDC151	115948	genome.wustl.edu	37	chr19	11531819	11531819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaacttgtccttggaagtgGcaaggggcagggcgatgcgg	10	7	17	7	2	0	0	0	0	0	0	1	2	1	1	1	6	2	2	1	6	4	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:11531819G>A	ENST00000356392.4	-	12	1739	c.1652C>T	c.(1651-1653)gCc>gTc	p.A551V	CCDC151_ENST00000545100.1_Missense_Mutation_p.A497V|CCDC151_ENST00000591179.1_Missense_Mutation_p.A491V|RGL3_ENST00000393423.3_5'Flank|CCDC151_ENST00000586836.1_Missense_Mutation_p.A360V|RGL3_ENST00000380456.3_5'Flank	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	551										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CTTGGAAGTGGCAAGGGGCAG	0.602																																																	0													49	51	51					19																	11531819		1931	4128	6059	SO:0001583	missense	0				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1652C>T	19.37:g.11531819G>A	ENSP00000348757:p.Ala551Val		B4DXT0|Q96CG5	Missense_Mutation	SNP	NULL	p.A551V	ENST00000356392.4	37	c.1652	CCDS42501.1	19	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555743	0.27827	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	T;T	0.15017	2.46;2.67	4.46	-1.43	0.08884	.	0.669254	0.12781	N	0.439655	T	0.10078	0.0247	L	0.37750	1.13	0.09310	N	1	B;B;B	0.20671	0.047;0.047;0.047	B;B;B	0.19946	0.027;0.027;0.027	T	0.31475	-0.9942	10	0.27082	T	0.32	-2.3288	3.1809	0.06584	0.2602:0.0:0.4558:0.2839	.	551;551;531	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	V	497;551;530	ENSP00000442987:A497V;ENSP00000348757:A551V	ENSP00000348757:A551V	A	-	2	0	CCDC151	11392819	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.066000	0.14489	0.241000	0.21283	-0.367000	0.07326	GCC	CCDC151	-	NULL	ENSG00000198003		0.602	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	HGNC	protein_coding	OTTHUMT00000458800.1	-	0	78	0	G	NM_145045		11531819	-1	tier1	-	no_errors	ENST00000356392	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	A	A	11531819	G	A	11531819	3	1	143	1	0	0	0	0	1	0	0	0	2793	1203	42	3	143	3	CCDC151	19	11531819	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	2169631	11531819	47597164	191	36367											
NWD1	284434	genome.wustl.edu	37	chr19	16923594	16923594	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaatgtgcttgcttctcCaaggatgacaagtatgtgta	10	13	10	8	0	1	1	0	1	1	0	3	2	2	2	2	1	2	4	2	1	5	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:16923594C>G	ENST00000552788.1	+	17	4326	c.4326C>G	c.(4324-4326)tcC>tcG	p.S1442S	NWD1_ENST00000523826.1_Silent_p.S1236S|NWD1_ENST00000549814.1_Silent_p.S1400S|NWD1_ENST00000379808.3_Intron|NWD1_ENST00000339803.6_Silent_p.S1307S|NWD1_ENST00000524140.2_Intron			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1442							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTGCTTCTCCAAGGATGACA	0.418																																																	0													283	234	251					19																	16923594		2203	4300	6503	SO:0001819	synonymous_variant	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4326C>G	19.37:g.16923594C>G			C9J021|Q68CT3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1307	ENST00000552788.1	37	c.3921		19																																																																																			NWD1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000188039		0.418	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	-	0	63	0	C	NM_001007525		16923594	1	tier1	-	no_errors	ENST00000339803	ensembl	human	known	74_37	silent	25.93	40	14	SNP	1.000	G	G	16923594	C	G	16923594	2	3	143	1	0	0	0	0	0	0	0	1	10820	581	21	5		5	NWD1	19	16923594	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	5391775	16923594	42205389	192	36368											
CPAMD8	27151	genome.wustl.edu	37	chr19	17108037	17108037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgcgacctgctggctccCgtccacactggtcaccatgg	7	7	11	16	3	1	0	1	0	0	0	3	2	3	0	4	3	2	2	4	3	1	0	rs369025323		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:17108037C>A	ENST00000443236.1	-	11	1151	c.1120G>T	c.(1120-1122)Ggg>Tgg	p.G374W	CPAMD8_ENST00000388925.4_Missense_Mutation_p.G327W	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	327						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						TGCTGGCTCCCGTCCACACTG	0.642																																																	0													27	28	27					19																	17108037		1905	4069	5974	SO:0001583	missense	0			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.1120G>T	19.37:g.17108037C>A	ENSP00000402505:p.Gly374Trp		Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.G374W	ENST00000443236.1	37	c.1120	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	c	14.86	2.660450	0.47572	.	.	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.58652	0.32;0.33	3.0	3.0	0.34707	.	0.703445	0.12215	N	0.488942	T	0.78978	0.4369	M	0.86651	2.83	0.51482	D	0.999929	D	0.89917	1.0	D	0.97110	1.0	T	0.81344	-0.0975	10	0.72032	D	0.01	.	14.3086	0.66400	0.0:1.0:0.0:0.0	.	327	Q8IZJ3	CPMD8_HUMAN	W	374;327	ENSP00000291440:G374W;ENSP00000373577:G327W	ENSP00000291440:G374W	G	-	1	0	CPAMD8	16969037	1.000000	0.71417	0.596000	0.28811	0.174000	0.22865	6.398000	0.73244	1.423000	0.47198	0.555000	0.69702	GGG	CPAMD8	-	NULL	ENSG00000160111		0.642	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	-	0	34	0	C	NM_015692		17108037	-1	tier1	-	no_errors	ENST00000443236	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A	A	17108037	C	A	17108037	3	1	143	1	0	0	0	0	1	0	0	0	3802	652	23	2	4806	2	CPAMD8	19	17108037	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	184443	17108037	42020946	193	36369											
UNC13A	23025	genome.wustl.edu	37	chr19	17778978	17778978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttcttggcccagtagCgagcctcctcttcaggaatg	7	10	10	14	1	3	0	1	0	2	0	4	2	4	1	4	2	3	2	4	2	2	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:17778978C>T	ENST00000519716.2	-	6	415	c.416G>A	c.(415-417)cGc>cAc	p.R139H	UNC13A_ENST00000551649.1_Missense_Mutation_p.R139H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R139H|UNC13A_ENST00000550896.1_Missense_Mutation_p.R139H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R139H|UNC13A_ENST00000428389.2_Missense_Mutation_p.R227H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	139					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						GGCCCAGTAGCGAGCCTCCTC	0.582																																																	0													77	79	78					19																	17778978		2011	4186	6197	SO:0001583	missense	0			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.416G>A	19.37:g.17778978C>T	ENSP00000429562:p.Arg139His		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R227H	ENST00000519716.2	37	c.680	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885449	0.72410	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.38	4.38	0.52667	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	T	0.65249	0.2673	M	0.63843	1.955	0.35461	D	0.796509	D	0.58268	0.982	B	0.37731	0.257	T	0.79035	-0.1968	10	0.62326	D	0.03	-14.5696	14.4334	0.67266	0.0:1.0:0.0:0.0	.	139	Q9UPW8	UN13A_HUMAN	H	139;227;139;139;139;139	ENSP00000429562:R139H;ENSP00000400409:R227H;ENSP00000252773:R139H;ENSP00000447236:R139H;ENSP00000447572:R139H;ENSP00000446831:R139H	ENSP00000252773:R139H	R	-	2	0	UNC13A	17639978	0.985000	0.35326	0.980000	0.43619	0.789000	0.44602	4.748000	0.62148	1.995000	0.58328	0.561000	0.74099	CGC	UNC13A	-	superfamily_C2_dom	ENSG00000130477		0.582	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0	52	0	C	XM_038604		17778978	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	12.73	47	7	SNP	0.994	T	T	17778978	C	T	17778978	3	4	143	1	0	0	0	0	1	0	0	0	17033	768	27	1	4843	1	UNC13A	19	17778978	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	670941	17778978	41350005	194	36370											
ZNF254	9534	genome.wustl.edu	37	chr19	24309076	24309076	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatgtgtcctcattttgctCaagacctttggccagagcag	8	13	10	10	0	2	2	2	0	0	2	3	2	3	2	3	1	2	3	3	1	2	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:24309076C>G	ENST00000357002.4	+	4	389	c.274C>G	c.(274-276)Caa>Gaa	p.Q92E	ZNF254_ENST00000342944.6_Missense_Mutation_p.Q7E	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	92					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)				TCATTTTGCTCAAGACCTTTG	0.308																																																	0													32	33	33					19																	24309076		2168	4279	6447	SO:0001583	missense	0			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.274C>G	19.37:g.24309076C>G	ENSP00000349494:p.Gln92Glu		A4QPC0|Q86XL7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q92E	ENST00000357002.4	37	c.274	CCDS32983.1	19	.	.	.	.	.	.	.	.	.	.	C	4.553	0.102703	0.08731	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.08720	3.06;3.39	1.42	-0.124	0.13523	.	.	.	.	.	T	0.07818	0.0196	L	0.48174	1.505	0.09310	N	1	B	0.21147	0.052	B	0.17979	0.02	T	0.32025	-0.9922	9	0.48119	T	0.1	.	6.8441	0.23979	0.0:0.4613:0.5387:0.0	.	92	O75437	ZN254_HUMAN	E	7;92;92	ENSP00000445527:Q7E;ENSP00000349494:Q92E	ENSP00000445527:Q7E	Q	+	1	0	ZNF254	24100916	.	.	0.003000	0.11579	0.631000	0.37964	.	.	0.536000	0.28733	0.313000	0.20887	CAA	ZNF254	-	NULL	ENSG00000213096		0.308	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	-	0	43	0	C	NM_004876		24309076	1	tier1	-	no_errors	ENST00000357002	ensembl	human	known	74_37	missense	21.43	44	12	SNP	0.000	G	G	24309076	C	G	24309076	3	3	143	1	0	0	0	0	1	0	0	0	17846	827	29	5	288	5	ZNF254	19	24309076	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	6530098	24309076	34819907	195	36371											
DMKN	93099	genome.wustl.edu	37	chr19	35991478	35991478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagtgatgacgcgtccGcaccctgaaaggaagaaggg	11	6	14	10	3	1	4	0	3	1	1	2	5	2	5	2	2	1	2	2	2	3	0	rs149828471		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:35991478G>A	ENST00000339686.3	-	12	1420	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V	DMKN_ENST00000480502.1_Missense_Mutation_p.A109V|DMKN_ENST00000419602.1_Missense_Mutation_p.A404V|DMKN_ENST00000414866.2_Missense_Mutation_p.A128V|DMKN_ENST00000492341.2_Missense_Mutation_p.A62V|DMKN_ENST00000602781.1_Missense_Mutation_p.A128V|DMKN_ENST00000467637.1_Missense_Mutation_p.A140V|DMKN_ENST00000436012.1_Missense_Mutation_p.A111V|DMKN_ENST00000472252.2_Missense_Mutation_p.A62V|DMKN_ENST00000429837.1_Missense_Mutation_p.A374V|DMKN_ENST00000408915.2_Missense_Mutation_p.A29V|DMKN_ENST00000402589.2_Missense_Mutation_p.A128V|DMKN_ENST00000443640.1_Missense_Mutation_p.A178V|DMKN_ENST00000462126.1_5'UTR	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	415			A -> S (in dbSNP:rs2293696).			extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A415V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	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)			TGACGCGTCCGCACCCTGAAA	0.617													G|||	1	0.000199681	0	0	5008	,	,		18636	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	71	48	56		86,1211,383,1121,1244	-2.4	0	19	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	DMKN	NM_001035516.3,NM_001126056.2,NM_001126059.2,NM_001190347.1,NM_033317.4	64,64,64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	29/91,404/466,128/190,374/450,415/477	35991478	1,13005	2203	4300	6503	SO:0001583	missense	0			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1244C>T	19.37:g.35991478G>A	ENSP00000342012:p.Ala415Val		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	NULL	p.A415V	ENST00000339686.3	37	c.1244	CCDS12463.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.569077|1.569077	0.28003|0.28003	2.27E-4|2.27E-4	0.0|0.0	ENSG00000161249|ENSG00000161249	ENST00000408915;ENST00000402589;ENST00000339686;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640|ENST00000443857	T;T;T;T;T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38|.	3.96|3.96	-2.41|-2.41	0.06562|0.06562	.|.	1.172480|.	0.06548|.	N|.	0.744470|.	T|T	0.13457|0.13457	0.0326|0.0326	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;P;B;B;B;B;B|.	0.38745|.	0.003;0.003;0.017;0.003;0.012;0.022;0.645;0.433;0.007;0.001;0.001;0.003|.	B;B;B;B;B;B;B;B;B;B;B;B|.	0.32533|.	0.001;0.001;0.004;0.001;0.002;0.005;0.147;0.049;0.003;0.001;0.001;0.001|.	T|T	0.24404|0.24404	-1.0161|-1.0161	10|5	0.52906|.	T|.	0.07|.	0.6512|0.6512	2.8777|2.8777	0.05636|0.05636	0.2958:0.0:0.3719:0.3323|0.2958:0.0:0.3719:0.3323	.|.	111;62;71;71;91;109;404;374;415;128;178;29|.	B4E3D1;B7ZB10;Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1;Q6E0U4-15|.	.;.;.;.;.;.;.;.;DMKN_HUMAN;.;.;.|.	V|W	29;128;415;111;128;374;404;178|119	ENSP00000386225:A29V;ENSP00000384509:A128V;ENSP00000342012:A415V;ENSP00000412075:A111V;ENSP00000392222:A128V;ENSP00000405503:A374V;ENSP00000391036:A404V;ENSP00000406864:A178V|.	ENSP00000342012:A415V|.	A|R	-|-	2|1	0|2	DMKN|DMKN	40683318|40683318	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.024000|0.024000	0.10985|0.10985	0.123000|0.123000	0.15708|0.15708	-0.411000|-0.411000	0.07530|0.07530	-0.477000|-0.477000	0.04895|0.04895	GCG|CGG	DMKN	-	NULL	ENSG00000161249		0.617	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2		0	50	0	G	NM_033317		35991478	-1			no_errors	ENST00000339686	ensembl	human	known	74_37	missense	5.56	33	2	SNP	0.000	A	A	35991478	G	A	35991478	3	1	143	1	0	0	0	0	1	0	0	0	4596	1087	38	1	248	1	DMKN	19	35991478	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	11682402	35991478	23137505	196	36372											
RYR1	6261	genome.wustl.edu	37	chr19	38954120	38954120	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcggagaacatccacGagctctgggcgctaacccgc	9	5	13	14	4	1	1	0	0	1	1	2	3	2	1	2	3	4	3	2	3	2	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:38954120G>T	ENST00000359596.3	+	21	2635	c.2635G>T	c.(2635-2637)Gag>Tag	p.E879*	RYR1_ENST00000355481.4_Nonsense_Mutation_p.E879*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.E879*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	879	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)	GAACATCCACGAGCTCTGGGC	0.657																																																	0													35	35	35					19																	38954120		2203	4300	6503	SO:0001587	stop_gained	0			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.2635G>T	19.37:g.38954120G>T	ENSP00000352608:p.Glu879*		Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E879*	ENST00000359596.3	37	c.2635	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	g	42	9.164480	0.99087	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	4.0	4.0	0.46444	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9968	0.80256	0.0:0.0:1.0:0.0	.	.	.	.	X	879	.	ENSP00000347667:E879X	E	+	1	0	RYR1	43645960	1.000000	0.71417	0.996000	0.52242	0.587000	0.36485	9.615000	0.98356	2.093000	0.63338	0.444000	0.29173	GAG	RYR1	-	pfam_Ryanodine_rcpt,prints_Ryan_recept	ENSG00000196218		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0	67	0	G			38954120	1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	38954120	G	T	38954120	4	4	143	1	0	0	0	0	0	1	0	0	13813	1059	37	2	2717	2	RYR1	19	38954120	Nonsense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	2962642	38954120	20174863	197	36373											
PSG6	5675	genome.wustl.edu	37	chr19	43407843	43407843	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgaaaccaggtgtttggaCcagcataggtaacctgggga	11	9	13	8	0	0	1	0	1	0	0	0	3	0	3	3	5	3	3	3	5	3	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:43407843C>G	ENST00000292125.2	-	6	1315	c.1271G>C	c.(1270-1272)gGt>gCt	p.G424A	PSG6_ENST00000187910.2_Intron|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	424					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)				ggtgtttggaccagcataggt	0.438																																																	0													55	51	53					19																	43407843		1326	2309	3635	SO:0001583	missense	0				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.1271G>C	19.37:g.43407843C>G	ENSP00000292125:p.Gly424Ala		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G424A	ENST00000292125.2	37	c.1271	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	c	0.037	-1.303080	0.01353	.	.	ENSG00000170848	ENST00000292125	T	0.27890	1.64	0.331	0.331	0.15933	.	.	.	.	.	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	8	0.19590	T	0.45	.	.	.	.	.	424	Q00889	PSG6_HUMAN	A	424	ENSP00000292125:G424A	ENSP00000292125:G424A	G	-	2	0	PSG6	48099683	0.001000	0.12720	0.004000	0.12327	0.016000	0.09150	-1.172000	0.03112	0.434000	0.26340	0.134000	0.15878	GGT	PSG6	-	NULL	ENSG00000170848		0.438	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	-	0	116	0	C	NM_002782		43407843	-1	tier1	-	no_errors	ENST00000292125	ensembl	human	known	74_37	missense	11.01	97	12	SNP	0.005	G	G	43407843	C	G	43407843	3	3	143	1	0	0	0	0	1	0	0	0	12701	507	18	5	79	5	PSG6	19	43407843	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	4453723	43407843	15721140	198	36374											
NKPD1	284353	genome.wustl.edu	37	chr19	45662002	45662002	+	5'Flank	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctcgctgggcttcaggaGgacgccagccgcggagggta	6	5	19	11	4	1	0	1	0	0	0	2	3	1	3	2	6	1	4	2	6	1	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:45662002G>C	ENST00000438936.2	-	0	0				NKPD1_ENST00000317951.4_Missense_Mutation_p.L150V			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1							integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GGCTTCAGGAGGACGCCAGCC	0.711																																																	0													17	23	21					19																	45662002		692	1591	2283	SO:0001631	upstream_gene_variant	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521		19.37:g.45662002G>C	Exception_encountered		B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	pfam_KAP_NTPase	p.L150V	ENST00000438936.2	37	c.448		19	.	.	.	.	.	.	.	.	.	.	G	7.015	0.557615	0.13436	.	.	ENSG00000179846	ENST00000317951	T	0.60171	0.21	4.13	-0.947	0.10382	.	.	.	.	.	T	0.53965	0.1829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49273	-0.8957	5	.	.	.	.	8.1112	0.30916	0.1832:0.1348:0.682:0.0	.	.	.	.	V	150	ENSP00000321976:L150V	.	L	-	1	0	NKPD1	50353842	0.970000	0.33590	0.795000	0.32087	0.085000	0.17905	0.298000	0.19120	0.139000	0.18822	-1.149000	0.01842	CTC	NKPD1	-	NULL	ENSG00000179846		0.711	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	-	0	12	0	G	NM_198478		45662002	-1	tier1	-	no_errors	ENST00000317951	ensembl	human	known	74_37	missense	40.00	6	4	SNP	0.792	C	C	45662002	G	C	45662002	1	2	143	0	1	0	0	0	0	0	0	0	10485	1000	35	5		5	NKPD1	19	45662002	5'Flank	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	2254159	45662002	13466981	199	36375											
IGFL4	444882	genome.wustl.edu	37	chr19	46544204	46544204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctggggtctccttaccaGaaattctgggcaccatgggt	7	10	14	10	0	2	1	0	0	2	1	3	1	2	1	3	5	1	2	3	5	2	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:46544204G>A	ENST00000377697.1	-	1	70	c.17C>T	c.(16-18)tCt>tTt	p.S6F	IGFL4_ENST00000595006.1_Intron|IGFL4_ENST00000601672.1_Intron	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	6						extracellular space (GO:0005615)				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CTCCTTACCAGAAATTCTGGG	0.438																																																	0													55	51	52					19																	46544204		2203	4300	6503	SO:0001583	missense	0			AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.17C>T	19.37:g.46544204G>A	ENSP00000366926:p.Ser6Phe			Missense_Mutation	SNP	NULL	p.S6F	ENST00000377697.1	37	c.17	CCDS33057.1	19	.	.	.	.	.	.	.	.	.	.	A	2.352	-0.348563	0.05208	.	.	ENSG00000204869	ENST00000377697	T	0.21361	2.01	2.0	0.851	0.18989	.	.	.	.	.	T	0.06416	0.0165	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39663	-0.9603	9	0.08381	T	0.77	.	2.5419	0.04728	0.533:0.2868:0.1802:0.0	.	6	Q6B9Z1	IGFL4_HUMAN	F	6	ENSP00000366926:S6F	ENSP00000366926:S6F	S	-	2	0	IGFL4	51236044	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.019000	0.13444	-0.155000	0.11098	-0.720000	0.03607	TCT	IGFL4	-	NULL	ENSG00000204869		0.438	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IGFL4	HGNC	protein_coding	OTTHUMT00000461698.1		0	36	0	G	NM_001002923		46544204	-1			no_errors	ENST00000377697	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	A	A	46544204	G	A	46544204	3	1	143	1	0	0	0	0	1	0	0	0	7616	942	33	3	373	3	IGFL4	19	46544204	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	882202	46544204	12584779	200	36376											
TRPM4	54795	genome.wustl.edu	37	chr19	49703625	49703625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatggttttcacggtgcGgctgcttcacatcttcacgg	5	14	10	12	3	5	0	4	0	1	0	5	0	5	0	0	4	2	3	0	4	0	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:49703625G>T	ENST00000252826.5	+	18	2840	c.2714G>T	c.(2713-2715)cGg>cTg	p.R905L	TRPM4_ENST00000427978.2_Missense_Mutation_p.R760L|TRPM4_ENST00000355712.5_Missense_Mutation_p.R551L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	905					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)		TTCACGGTGCGGCTGCTTCAC	0.607																																																	0													60	54	56					19																	49703625		2203	4300	6503	SO:0001583	missense	0			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.2714G>T	19.37:g.49703625G>T	ENSP00000252826:p.Arg905Leu		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R905L	ENST00000252826.5	37	c.2714	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.213495	0.95069	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	D;T;D	0.99619	-6.28;-0.72;-6.28	4.21	4.21	0.49690	Ion transport (1);	0.063176	0.64402	D	0.000015	D	0.99635	0.9866	M	0.89095	3.005	0.58432	D	0.999992	D;D;D;D	0.89917	0.997;0.997;0.997;1.0	D;P;P;D	0.97110	0.95;0.873;0.873;1.0	D	0.97562	1.0099	10	0.87932	D	0	-27.4517	15.7186	0.77688	0.0:0.0:1.0:0.0	.	551;731;760;905	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	L	905;760;551	ENSP00000252826:R905L;ENSP00000407492:R760L;ENSP00000347944:R551L	ENSP00000252826:R905L	R	+	2	0	TRPM4	54395437	1.000000	0.71417	0.972000	0.41901	0.932000	0.56968	9.056000	0.93881	2.084000	0.62774	0.491000	0.48974	CGG	TRPM4	-	pfam_Ion_trans_dom	ENSG00000130529		0.607	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	-	0	45	0	G	NM_017636		49703625	1	tier1	-	no_errors	ENST00000252826	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	T	T	49703625	G	T	49703625	3	4	143	1	0	0	0	0	1	0	0	0	16636	1116	39	2	2784	2	TRPM4	19	49703625	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	3159421	49703625	9425358	201	36377											
ZNF534	147658	genome.wustl.edu	37	chr19	52942558	52942558	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgaatgtagcaaggtcttCagtcggaattcacgccttgc	11	11	10	9	2	3	1	2	1	1	0	4	2	3	2	1	2	2	2	1	2	5	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:52942558C>T	ENST00000332323.6	+	4	1945	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Silent_p.F615F	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GCAAGGTCTTCAGTCGGAATT	0.408																																																	0													52	49	50					19																	52942558		692	1591	2283	SO:0001819	synonymous_variant	0			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.1884C>T	19.37:g.52942558C>T			Q76KX9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F628	ENST00000332323.6	37	c.1884	CCDS46165.1	19																																																																																			ZNF534	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198633		0.408	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	-	0	57	0	C	NM_182512		52942558	1	tier1	-	no_errors	ENST00000332323	ensembl	human	known	74_37	silent	36.07	39	22	SNP	0.009	T	T	52942558	C	T	52942558	2	4	143	1	0	0	0	0	0	0	0	1	18021	825	29	3		3	ZNF534	19	52942558	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	3238933	52942558	6186425	202	36378											
ZNF160	90338	genome.wustl.edu	37	chr19	53571671	53571671	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcccacactcattgcatcGgtaaggtttctctccggtgt	6	15	8	12	2	2	0	1	0	1	0	6	0	4	0	2	3	1	3	2	3	1	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:53571671G>A	ENST00000429604.1	-	7	2531	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	ZNF160_ENST00000601421.1_Nonsense_Mutation_p.R670*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.R706*|ZNF160_ENST00000418871.1_Nonsense_Mutation_p.R706*	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	706					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)		TCATTGCATCGGTAAGGTTTC	0.443																																																	0													159	135	143					19																	53571671		2203	4300	6503	SO:0001587	stop_gained	0			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.2116C>T	19.37:g.53571671G>A	ENSP00000406201:p.Arg706*		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R706*	ENST00000429604.1	37	c.2116	CCDS12859.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.701804	0.97772	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	.	.	.	2.47	-1.23	0.09465	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	5.3366	0.15961	0.0:0.1179:0.307:0.5751	.	.	.	.	X	706	.	ENSP00000409597:R706X	R	-	1	2	ZNF160	58263483	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	-4.369000	0.00245	-0.181000	0.10619	-0.310000	0.09108	CGA	ZNF160	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170949		0.443	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	-	0	80	0	G	NM_033288		53571671	-1	tier1	-	no_errors	ENST00000418871	ensembl	human	known	74_37	nonsense	12.50	63	9	SNP	0.052	A	A	53571671	G	A	53571671	4	1	143	1	0	0	0	0	0	1	0	0	17787	1124	39	1	344	1	ZNF160	19	53571671	Nonsense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	629113	53571671	5557312	203	36379											
NLRP7	199713	genome.wustl.edu	37	chr19	55450533	55450533	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaagatgtgctttgcattGcagcaattcctgtttgatgt	9	16	10	6	0	0	3	0	2	0	1	1	3	1	3	1	0	4	5	1	0	2	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:55450533G>A	ENST00000590030.1	-	3	1694	c.1654C>T	c.(1654-1656)Caa>Taa	p.Q552*	NLRP7_ENST00000588756.1_Nonsense_Mutation_p.Q552*|NLRP7_ENST00000446217.1_Nonsense_Mutation_p.Q580*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.Q552*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.Q552*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.Q552*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.Q552*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	552							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)		GCTTTGCATTGCAGCAATTCC	0.527																																																	0													87	86	87					19																	55450533		2203	4300	6503	SO:0001587	stop_gained	0			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.1654C>T	19.37:g.55450533G>A	ENSP00000465520:p.Gln552*		E9PE16|Q32MH8|Q7RTR1	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q580*	ENST00000590030.1	37	c.1738	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546044	0.65198	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	.	.	.	1.74	-2.97	0.05530	.	3.036110	0.01504	N	0.017615	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	3.9581	0.09399	0.0:0.4615:0.2433:0.2952	.	.	.	.	X	552;552;552;580;319	.	ENSP00000329568:Q552X	Q	-	1	0	NLRP7	60142345	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.904000	0.04080	-0.982000	0.03515	-0.521000	0.04368	CAA	NLRP7	-	NULL	ENSG00000167634		0.527	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1		0	33	0	G	NM_139176		55450533	-1			no_errors	ENST00000446217	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	0.002	A	A	55450533	G	A	55450533	4	1	143	1	0	0	0	0	0	1	0	0	10521	1328	46	3	1491	3	NLRP7	19	55450533	Nonsense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	1878862	55450533	3678450	204	36380											
PTPRH	5794	genome.wustl.edu	37	chr19	55697635	55697635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcagcatgaccagggtgtgGctctgctgttcccacaccag	7	9	12	13	0	2	1	1	1	1	0	3	1	3	1	3	2	2	4	3	2	0	1			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr19:55697635G>T	ENST00000376350.3	-	16	2758	c.2736C>A	c.(2734-2736)agC>agA	p.S912R	PTPRH_ENST00000263434.5_Missense_Mutation_p.S734R	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	912	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)		CCAGGGTGTGGCTCTGCTGTT	0.632																																																	0													45	45	45					19																	55697635		2203	4300	6503	SO:0001583	missense	0				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.2736C>A	19.37:g.55697635G>T	ENSP00000365528:p.Ser912Arg		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S912R	ENST00000376350.3	37	c.2736	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981864	0.53827	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.84516	-1.86;-1.86	4.97	2.84	0.33178	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.42682	D	0.000676	D	0.91928	0.7444	M	0.87180	2.865	0.42552	D	0.993115	D;D	0.76494	0.999;0.999	D;D	0.87578	0.995;0.998	D	0.91349	0.5103	10	0.56958	D	0.05	.	10.432	0.44413	0.163:0.0:0.837:0.0	.	734;912	C9JCH2;Q9HD43	.;PTPRH_HUMAN	R	912;734	ENSP00000365528:S912R;ENSP00000263434:S734R	ENSP00000263434:S734R	S	-	3	2	PTPRH	60389447	0.262000	0.24073	0.991000	0.47740	0.671000	0.39405	1.427000	0.34881	0.649000	0.30751	-0.145000	0.13849	AGC	PTPRH	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000080031		0.632	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1		0	83	0	G			55697635	-1			no_errors	ENST00000376350	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.902	T	T	55697635	G	T	55697635	3	4	143	1	0	0	0	0	1	0	0	0	12848	1194	42	3	631	3	PTPRH	19	55697635	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	247102	55697635	3431348	205	36381											
KIF16B	55614	genome.wustl.edu	37	chr20	16254017	16254017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtggaggggagatgttgCggactggagcatcacgctga	9	8	18	6	2	1	2	1	1	0	1	1	7	1	5	0	5	2	3	0	5	0	1	rs369549554		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr20:16254017C>T	ENST00000354981.2	-	26	3992	c.3835G>A	c.(3835-3837)Gca>Aca	p.A1279T	KIF16B_ENST00000378003.2_Missense_Mutation_p.A464T|KIF16B_ENST00000355755.3_Missense_Mutation_p.A1249T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1279	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.A1279P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GGAGATGTTGCGGACTGGAGC	0.473																																																	1	Substitution - Missense(1)	lung(1)						C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	117	110	112		3682,3835	3.8	0	20		112	0,8600		0,0,4300	no	missense,missense	KIF16B	NM_001199865.1,NM_024704.4	58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	1228/1267,1279/1318	16254017	1,13005	2203	4300	6503	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3835G>A	20.37:g.16254017C>T	ENSP00000347076:p.Ala1279Thr		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Phox,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,superfamily_Phox,smart_Kinesin_motor_dom,smart_Phox,pfscan_Phox,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A1279T	ENST00000354981.2	37	c.3835	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	8.014	0.758097	0.15846	2.27E-4	0.0	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003	T;T;T	0.70164	-0.46;-0.46;2.55	5.87	3.78	0.43462	Phox homologous domain (2);	.	.	.	.	T	0.37945	0.1022	N	0.03608	-0.345	0.09310	N	1	P;P	0.37176	0.531;0.586	B;B	0.28784	0.057;0.094	T	0.21655	-1.0239	9	0.72032	D	0.01	.	7.8763	0.29595	0.0:0.6445:0.2616:0.0939	.	1238;1279	Q96L93-6;Q96L93	.;KI16B_HUMAN	T	1279;1249;1123;464	ENSP00000347076:A1279T;ENSP00000347995:A1249T;ENSP00000367242:A464T	ENSP00000347076:A1279T	A	-	1	0	KIF16B	16202017	0.788000	0.28762	0.006000	0.13384	0.732000	0.41865	1.540000	0.36115	1.426000	0.47256	0.655000	0.94253	GCA	KIF16B	-	smart_Phox,pfscan_Phox	ENSG00000089177		0.473	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2		0	50	0	C	NM_017683		16254017	-1			no_errors	ENST00000354981	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.021	T	T	16254017	C	T	16254017	3	4	143	1	0	0	0	0	1	0	0	0	8305	768	27	1	122	1	KIF16B	20	16254017	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09		16254017	46771503	206	36382											
PTPRT	11122	genome.wustl.edu	37	chr20	40877452	40877452	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccacagtgttagaattctgGgtggaggcacctaggaaggg	10	9	15	7	0	1	1	0	0	1	1	2	3	2	3	2	5	0	2	2	5	4	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr20:40877452G>T	ENST00000373187.1	-	14	2186	c.2187C>A	c.(2185-2187)acC>acA	p.T729T	PTPRT_ENST00000373198.4_Silent_p.T748T|PTPRT_ENST00000373193.3_Silent_p.T729T|PTPRT_ENST00000373190.1_Silent_p.T729T|PTPRT_ENST00000373184.1_Silent_p.T729T|PTPRT_ENST00000356100.2_Silent_p.T748T|PTPRT_ENST00000373201.1_Silent_p.T729T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	729					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAGAATTCTGGGTGGAGGCAC	0.493																																																	0													63	66	65					20																	40877452		2093	4214	6307	SO:0001819	synonymous_variant	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2187C>A	20.37:g.40877452G>T			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.T748	ENST00000373187.1	37	c.2244	CCDS42874.1	20																																																																																			PTPRT	-	NULL	ENSG00000196090		0.493	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	45	0	G			40877452	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	silent	37.50	25	15	SNP	0.067	T	T	40877452	G	T	40877452	2	4	143	1	0	0	0	0	0	0	0	1	12857	1219	43	3		3	PTPRT	20	40877452	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	24623435	40877452	22148068	207	36383											
PPP1R3D	5509	genome.wustl.edu	37	chr20	58514148	58514148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtgcagcgcgtggttgCgacatgtgaggctgtagtct	6	11	16	8	3	1	1	0	1	1	0	1	2	1	1	0	2	3	5	0	2	1	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr20:58514148C>T	ENST00000370996.3	-	1	1204	c.839G>A	c.(838-840)cGc>cAc	p.R280H	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	280					dephosphorylation (GO:0016311)|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 serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CGCGTGGTTGCGACATGTGAG	0.652																																																	0													50	50	50					20																	58514148		2203	4300	6503	SO:0001583	missense	0			Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9294	protein-coding gene	gene with protein product		603326	"protein phosphatase 1, regulatory (inhibitor) subunit 3D"	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.839G>A	20.37:g.58514148C>T	ENSP00000360035:p.Arg280His		Q6DK02	Missense_Mutation	SNP	pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21	p.R280H	ENST00000370996.3	37	c.839	CCDS13483.1	20	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468816	0.43839	.	.	ENSG00000132825	ENST00000370996	T	0.56776	0.44	5.22	4.07	0.47477	.	0.210667	0.31199	N	0.008070	T	0.38931	0.1059	L	0.33485	1.01	0.36304	D	0.857222	B	0.25312	0.123	B	0.16289	0.015	T	0.39542	-0.9609	10	0.16896	T	0.51	-21.7536	14.671	0.68945	0.0:0.9178:0.0:0.0822	.	280	O95685	PPR3D_HUMAN	H	280	ENSP00000360035:R280H	ENSP00000360035:R280H	R	-	2	0	PPP1R3D	57947543	1.000000	0.71417	0.998000	0.56505	0.697000	0.40408	3.072000	0.50049	2.451000	0.82905	0.561000	0.74099	CGC	PPP1R3D	-	pirsf_Pase-1_Glycogen_target-su_met	ENSG00000132825		0.652	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3D	HGNC	protein_coding	OTTHUMT00000079940.2	-	0	28	0	C	NM_006242		58514148	-1	tier1	-	no_errors	ENST00000370996	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	T	T	58514148	C	T	58514148	3	4	143	1	0	0	0	0	1	0	0	0	12416	768	27	1	64	1	PPP1R3D	20	58514148	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	17636696	58514148	4511372	208	36384											
CHRNA4	1137	genome.wustl.edu	37	chr20	61987390	61987390	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgcggatggaggtgacaTtctcatagtcagctgggtcc	8	10	15	8	1	2	1	2	1	1	0	4	4	3	4	1	5	2	1	1	5	1	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr20:61987390T>C	ENST00000370263.4	-	4	541	c.320A>G	c.(319-321)aAt>aGt	p.N107S	CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	107					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)	GGAGGTGACATTCTCATAGTC	0.622																																																	0													54	46	49					20																	61987390		2201	4296	6497	SO:0001583	missense	0				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.320A>G	20.37:g.61987390T>C	ENSP00000359285:p.Asn107Ser		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.N107S	ENST00000370263.4	37	c.320	CCDS13517.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.0|25.0	4.591249|4.591249	0.86851|0.86851	.|.	.|.	ENSG00000101204|ENSG00000101204	ENST00000539366|ENST00000370263	.|T	.|0.79247	.|-1.25	4.19|4.19	4.19|4.19	0.49359|0.49359	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.192470	.|0.44902	.|U	.|0.000416	D|D	0.83492|0.83492	0.5266|0.5266	M|M	0.81497|0.81497	2.545|2.545	0.58432|0.58432	D|D	0.999995|0.999995	B|P	0.20261|0.51933	0.043|0.949	B|P	0.19946|0.51777	0.027|0.679	D|D	0.86194|0.86194	0.1614|0.1614	7|10	.|0.72032	.|D	.|0.01	.|.	13.2418|13.2418	0.60002|0.60002	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3|107	Q4VAQ5|P43681	.|ACHA4_HUMAN	V|S	3|107	.|ENSP00000359285:N107S	.|ENSP00000359285:N107S	M|N	-|-	1|2	0|0	CHRNA4|CHRNA4	61457834|61457834	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.904000|0.904000	0.53231|0.53231	6.013000|6.013000	0.70776|0.70776	1.515000|1.515000	0.48885|0.48885	0.363000|0.363000	0.22086|0.22086	ATG|AAT	CHRNA4	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000101204		0.622	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	HGNC	protein_coding	OTTHUMT00000080508.3	-	0	52	0	T			61987390	-1	tier1	-	no_errors	ENST00000370263	ensembl	human	known	74_37	missense	18.18	63	14	SNP	1.000	C	C	61987390	T	C	61987390	3	2	143	1	0	0	0	0	1	0	0	0	3392	1493	52	4	1575	4	CHRNA4	20	61987390	Missense_Mutation	SNP	T	TCGA-R6-A6L6-01B-11D-A33E-09	3473242	61987390	1038130	209	36385											
ITGB2	3689	genome.wustl.edu	37	chr21	46320388	46320388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttgcgccagccgatttcCtcctgagaagaaggcgtggg	8	8	14	11	4	0	2	0	1	0	2	2	4	2	2	4	2	2	1	4	2	2	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr21:46320388C>T	ENST00000397850.2	-	8	1196	c.744G>A	c.(742-744)gaG>gaA	p.E248E	ITGB2_ENST00000397854.3_Silent_p.E191E|ITGB2_ENST00000355153.4_Silent_p.E248E|ITGB2_ENST00000302347.5_Silent_p.E248E|ITGB2_ENST00000397857.1_Silent_p.E248E|ITGB2_ENST00000397852.1_Silent_p.E248E			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	248	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGCCGATTTCCTCCTGAGAAG	0.657																																																	0													41	45	44					21																	46320388		2203	4300	6503	SO:0001819	synonymous_variant	0			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.744G>A	21.37:g.46320388C>T			B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.E248	ENST00000397850.2	37	c.744	CCDS13716.1	21																																																																																			ITGB2	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000160255		0.657	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	-	0	149	0	C	NM_000211		46320388	-1	tier1	-	no_errors	ENST00000302347	ensembl	human	known	74_37	silent	7.34	101	8	SNP	0.998	T	T	46320388	C	T	46320388	2	4	143	1	0	0	0	0	0	0	0	1	7921	680	24	3		3	ITGB2	21	46320388	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09		46320388	1809507	210	36386											
SCARF2	91179	genome.wustl.edu	37	chr22	20781731	20781731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatcagtggtgtcaaaCgaggagaaggaggcccgaga	12	6	14	9	2	3	2	3	0	0	2	3	6	3	3	2	4	1	0	2	4	2	1	rs542257135		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr22:20781731C>T	ENST00000266214.5	-	10	1766	c.1662G>A	c.(1660-1662)tcG>tcA	p.S554S	SCARF2_ENST00000405555.3_Silent_p.S549S	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	554					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)			TGGTGTCAAACGAGGAGAAGG	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		21477	0		0	False		,,,				2504	0																0													106	93	97					22																	20781731		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1662G>A	22.37:g.20781731C>T			E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.S549	ENST00000266214.5	37	c.1647	CCDS13779.1	22																																																																																			SCARF2	-	NULL	ENSG00000244486		0.577	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	HGNC	protein_coding	OTTHUMT00000320047.1	-	0	48	0	C			20781731	-1	tier1	-	no_errors	ENST00000405555	ensembl	human	known	74_37	silent	17.65	28	6	SNP	1.000	T	T	20781731	C	T	20781731	2	4	143	1	0	0	0	0	0	0	0	1	13929	523	19	1		1	SCARF2	22	20781731	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09		20781731	30522835	211	36387											
XBP1	7494	genome.wustl.edu	37	chr22	29191375	29191375	+	3'UTR	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccggaacgaggtcatcttCtacaggttcttccttcactg	7	13	8	13	2	5	0	2	0	3	0	7	2	7	1	2	3	2	1	2	3	2	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr22:29191375C>G	ENST00000216037.6	-	0	1017				XBP1_ENST00000405219.3_3'UTR|XBP1_ENST00000403532.3_3'UTR|XBP1_ENST00000344347.5_Missense_Mutation_p.E307Q	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AGGTCATCTTCTACAGGTTCT	0.498																																																	0													75	81	79					22																	29191375		1196	2234	3430	SO:0001624	3_prime_UTR_variant	0			M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"basic leucine zipper proteins"	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.*159G>C	22.37:g.29191375C>G			Q8WYK6|Q969P1|Q96BD7	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.E307Q	ENST00000216037.6	37	c.919	CCDS13847.1	22	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430661	0.62844	.	.	ENSG00000100219	ENST00000344347	.	.	.	5.73	5.73	0.89815	.	0.245809	0.38778	N	0.001567	T	0.76751	0.4031	.	.	.	0.47441	D	0.999424	D	0.59767	0.986	P	0.58873	0.847	T	0.78964	-0.1996	8	0.72032	D	0.01	.	17.3898	0.87427	0.0:1.0:0.0:0.0	.	307	P17861-2	.	Q	307	.	ENSP00000343155:E307Q	E	-	1	0	XBP1	27521375	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	6.188000	0.72045	2.704000	0.92352	0.655000	0.94253	GAA	XBP1	-	NULL	ENSG00000100219		0.498	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	XBP1	HGNC	protein_coding	OTTHUMT00000321274.1	-	0	60	0	C	NM_005080		29191375	-1	tier1	-	no_errors	ENST00000344347	ensembl	human	known	74_37	missense	9.23	59	6	SNP	1.000	G	G	29191375	C	G	29191375	1	3	143	0	1	0	0	0	0	0	0	0	17471	922	32	5		5	XBP1	22	29191375	3'UTR	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	8409644	29191375	22113191	212	36388											
NF2	4771	genome.wustl.edu	37	chr22	30057296	30057296	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctccttcccgtggaatGaaatccgaaacatctcgtac	12	10	7	12	3	2	2	0	1	2	1	6	4	4	3	3	1	2	1	3	1	4	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr22:30057296G>T	ENST00000338641.4	+	8	1219	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	NF2_ENST00000361166.4_Nonsense_Mutation_p.E260*|NF2_ENST00000347330.5_Nonsense_Mutation_p.E101*|NF2_ENST00000403435.1_Nonsense_Mutation_p.E260*|NF2_ENST00000403999.3_Nonsense_Mutation_p.E260*|NF2_ENST00000361676.4_Nonsense_Mutation_p.E218*|NF2_ENST00000334961.7_Nonsense_Mutation_p.E177*|NF2_ENST00000397789.3_Nonsense_Mutation_p.E260*|NF2_ENST00000361452.4_Nonsense_Mutation_p.E219*|NF2_ENST00000353887.4_Nonsense_Mutation_p.E177*|NF2_ENST00000413209.2_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	260	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.D245fs*31(1)|p.N226_E270del(1)|p.K253_S265del(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						CCCGTGGAATGAAATCCGAAA	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	6	Unknown(3)|Deletion - In frame(2)|Complex - frameshift(1)	soft_tissue(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)	GRCh37	CI084935	NF2	I							127	118	121					22																	30057296		2203	4300	6503	SO:0001587	stop_gained	0	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.778G>T	22.37:g.30057296G>T	ENSP00000344666:p.Glu260*		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin	p.E260*	ENST00000338641.4	37	c.778	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	G	41	8.687139	0.98914	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	.	.	.	X	101;260;260;219;260;260;177;177;260;218;260	.	.	E	+	1	0	NF2	28387296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.747000	0.94245	0.650000	0.86243	GAA	NF2	-	pirsf_ERM,pfam_FERM_PH-like_C,pfscan_FERM_domain	ENSG00000186575		0.532	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3		0	78	0	G	NM_000268		30057296	1			no_errors	ENST00000338641	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	1.000	T	T	30057296	G	T	30057296	4	4	143	1	0	0	0	0	0	1	0	0	10396	1291	45	3	808	3	NF2	22	30057296	Nonsense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	865921	30057296	21247270	213	36389											
HORMAD2	150280	genome.wustl.edu	37	chr22	30572086	30572086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtgtgcagtcagcaaaGttctgagtgctccaggaaga	10	12	12	7	0	2	2	1	1	1	1	3	3	3	3	1	1	3	4	1	1	2	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr22:30572086G>T	ENST00000336726.6	+	11	1209	c.854G>T	c.(853-855)aGt>aTt	p.S285I	HORMAD2_ENST00000403975.1_Missense_Mutation_p.S285I	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	285					meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			AGTCAGCAAAGTTCTGAGTGC	0.383																																																	0													83	84	84					22																	30572086		1876	4121	5997	SO:0001583	missense	0			AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.854G>T	22.37:g.30572086G>T	ENSP00000336984:p.Ser285Ile		B5MEB2|Q8NHR2	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.S285I	ENST00000336726.6	37	c.854	CCDS46683.1	22	.	.	.	.	.	.	.	.	.	.	G	8.522	0.868927	0.17322	.	.	ENSG00000176635	ENST00000336726;ENST00000403975;ENST00000481990	T;T	0.31510	1.49;1.49	5.86	-2.8	0.05823	.	1.027090	0.07674	N	0.935862	T	0.14657	0.0354	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27872	-1.0061	10	0.40728	T	0.16	2.3319	0.3393	0.00331	0.3113:0.1327:0.2837:0.2723	.	285	Q8N7B1	HORM2_HUMAN	I	285;285;25	ENSP00000336984:S285I;ENSP00000385055:S285I	ENSP00000336984:S285I	S	+	2	0	HORMAD2	28902086	0.039000	0.19947	0.000000	0.03702	0.920000	0.55202	0.504000	0.22626	-0.370000	0.08016	-0.913000	0.02753	AGT	HORMAD2	-	NULL	ENSG00000176635		0.383	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HORMAD2	HGNC	protein_coding	OTTHUMT00000320416.2	-	0	55	0	G	NM_152510		30572086	1	tier1	-	no_errors	ENST00000336726	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	T	T	30572086	G	T	30572086	3	4	143	1	0	0	0	0	1	0	0	0	7314	1029	36	3	892	3	HORMAD2	22	30572086	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	514790	30572086	20732480	214	36390											
SOX10	6663	genome.wustl.edu	37	chr22	38379656	38379656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccagctcgcctggccccgGgctggctcgcaggcccgatc	3	5	14	19	4	0	0	0	0	0	0	3	1	0	0	5	4	1	4	5	4	0	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr22:38379656G>C	ENST00000396884.2	-	2	418	c.136C>G	c.(136-138)Ccg>Gcg	p.P46A	POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000470555.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.P46A	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	46					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCTGGCCCCGGGCTGGCTCGC	0.751																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)												0													29	19	23					22																	38379656		2192	4295	6487	SO:0001583	missense	0				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.136C>G	22.37:g.38379656G>C	ENSP00000380093:p.Pro46Ala		B4DV62|Q6FHW7	Missense_Mutation	SNP	pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P46A	ENST00000396884.2	37	c.136	CCDS13964.1	22	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564613	0.27915	.	.	ENSG00000100146	ENST00000396884;ENST00000360880;ENST00000416937;ENST00000427770	T;T;T	0.77098	-1.07;-1.07;-1.07	4.35	4.35	0.52113	.	0.417751	0.21308	N	0.076689	T	0.67859	0.2938	L	0.46157	1.445	0.40033	D	0.975556	B	0.23650	0.089	B	0.22753	0.041	T	0.63409	-0.6644	9	.	.	.	.	8.4313	0.32759	0.1454:0.0:0.8546:0.0	.	46	P56693	SOX10_HUMAN	A	46	ENSP00000380093:P46A;ENSP00000354130:P46A;ENSP00000414853:P46A	.	P	-	1	0	SOX10	36709602	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.964000	0.49192	2.260000	0.74910	0.456000	0.33151	CCG	SOX10	-	pfam_Sox_N	ENSG00000100146		0.751	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SOX10	HGNC	protein_coding	OTTHUMT00000313875.1	-	0	24	0	G	NM_006941		38379656	-1	tier1	-	no_errors	ENST00000360880	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	C	C	38379656	G	C	38379656	3	2	143	1	0	0	0	0	1	0	0	0	14986	1232	43	5	1276	5	SOX10	22	38379656	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	7807570	38379656	12924910	215	36391											
MGAT3	4248	genome.wustl.edu	37	chr22	39884528	39884528	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactacaccatgcccaacttCagacagtatgagaaccgcac	14	7	6	14	1	1	2	1	1	0	2	1	3	1	2	3	0	5	2	3	0	5	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr22:39884528C>T	ENST00000341184.6	+	2	1391	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F		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	392					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)					TGCCCAACTTCAGACAGTATG	0.657																																																	0													45	45	45					22																	39884528		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1176C>T	22.37:g.39884528C>T			A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	pfam_Glyco_trans_17	p.F392	ENST00000341184.6	37	c.1176	CCDS13994.2	22																																																																																			MGAT3	-	pfam_Glyco_trans_17	ENSG00000128268		0.657	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	-	0	62	0	C	NM_002409		39884528	1	tier1	-	no_errors	ENST00000341184	ensembl	human	known	74_37	silent	14.29	48	8	SNP	1.000	T	T	39884528	C	T	39884528	2	4	143	1	0	0	0	0	0	0	0	1	9582	825	29	3		3	MGAT3	22	39884528	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	1504872	39884528	11420038	216	36392											
LMF2	91289	genome.wustl.edu	37	chr22	50942048	50942048	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcagggcgggggcctccagGggagacagctgagagcgagt	9	3	20	9	2	0	2	0	1	0	2	1	5	1	2	2	5	3	2	2	5	0	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chr22:50942048G>T	ENST00000474879.2	-	14	1911	c.1896C>A	c.(1894-1896)ccC>ccA	p.P632P	LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Silent_p.P519P|LMF2_ENST00000216080.5_Silent_p.P607P	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	632						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCCTCCAGGGGAGACAGCT	0.687																																																	0													13	18	16					22																	50942048		2179	4270	6449	SO:0001819	synonymous_variant	0			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1896C>A	22.37:g.50942048G>T			A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP	pfam_LMF	p.P632	ENST00000474879.2	37	c.1896	CCDS14093.2	22	.	.	.	.	.	.	.	.	.	.	G	0.829	-0.745791	0.03065	.	.	ENSG00000100258	ENST00000487499	.	.	.	5.22	-4.86	0.03132	.	0.439418	0.24991	N	0.033985	T	0.35770	0.0943	.	.	.	0.43642	D	0.996046	.	.	.	.	.	.	T	0.16158	-1.0412	6	0.26408	T	0.33	3.5558	1.4851	0.02445	0.2892:0.1058:0.3899:0.2151	.	.	.	.	T	639	.	ENSP00000424764:P639T	P	-	1	0	LMF2	49288914	0.035000	0.19736	0.056000	0.19401	0.035000	0.12851	-0.026000	0.12392	-0.862000	0.04089	-0.797000	0.03246	CCT	LMF2	-	NULL	ENSG00000100258		0.687	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	HGNC	protein_coding	OTTHUMT00000316833.2	-	0	53	0	G	NM_033200		50942048	-1	tier1	-	no_errors	ENST00000474879	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.082	T	T	50942048	G	T	50942048	2	4	143	1	0	0	0	0	0	0	0	1	8876	1219	43	3		3	LMF2	22	50942048	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	11057520	50942048	362518	217	36393											
DMD	1756	genome.wustl.edu	37	chrX	31525458	31525458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcatgttatccaaacgtCtttgtaacaggactgcatca	12	13	7	9	1	3	0	2	0	1	0	4	1	4	1	1	1	3	4	1	1	3	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chrX:31525458C>T	ENST00000357033.4	-	56	8536	c.8330G>A	c.(8329-8331)aGa>aAa	p.R2777K	DMD_ENST00000343523.2_Missense_Mutation_p.R317K|DMD_ENST00000359836.1_Missense_Mutation_p.R317K|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000474231.1_Missense_Mutation_p.R317K|DMD_ENST00000541735.1_Missense_Mutation_p.R317K|DMD_ENST00000378677.2_Missense_Mutation_p.R2773K|DMD_ENST00000378707.3_Missense_Mutation_p.R317K	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	2777					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)				ATCCAAACGTCTTTGTAACAG	0.403																																																	0													185	150	162					X																	31525458		2202	4300	6502	SO:0001583	missense	0			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.8330G>A	X.37:g.31525458C>T	ENSP00000354923:p.Arg2777Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.R2777K	ENST00000357033.4	37	c.8330	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	13.36	2.212803	0.39102	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.68	5.68	0.88126	.	0.000000	0.39475	U	0.001357	T	0.45216	0.1331	L	0.35341	1.055	0.44539	D	0.99749	B;P;D;B;B;B;B;B;B;B;B	0.57257	0.022;0.543;0.979;0.219;0.219;0.007;0.004;0.004;0.122;0.1;0.151	B;B;D;B;B;B;B;B;B;B;B	0.74023	0.078;0.306;0.982;0.191;0.113;0.02;0.015;0.015;0.064;0.038;0.108	T	0.15150	-1.0447	10	0.22109	T	0.4	.	18.7631	0.91860	0.0:1.0:0.0:0.0	.	2769;2777;2773;1436;1433;317;317;317;317;317;2654	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	K	2769;1436;1433;473;2773;2777;317;317;2777;2654;317;317;317	ENSP00000350765:R473K;ENSP00000367948:R2773K;ENSP00000354923:R2777K;ENSP00000352894:R317K;ENSP00000340057:R317K;ENSP00000367979:R317K;ENSP00000444119:R317K;ENSP00000417123:R317K	ENSP00000340057:R317K	R	-	2	0	DMD	31435379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.049000	0.64244	2.377000	0.81083	0.594000	0.82650	AGA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.403	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	16	0	C	NM_004006		31525458	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	T	T	31525458	C	T	31525458	3	4	143	1	0	0	0	0	1	0	0	0	4594	913	32	3	2937	3	DMD	23	31525458	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09		31525458	123745102	218	36394											
ATP6AP2	10159	genome.wustl.edu	37	chrX	40448252	40448252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttcaggtgttttggggaacGagtttagtatattaaaatca	12	16	10	3	1	2	0	2	0	0	0	2	2	2	1	0	3	1	3	0	3	6	8			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chrX:40448252G>C	ENST00000378438.4	+	2	210	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	ATP6AP2_ENST00000486558.1_Intron|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.E18Q|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.E18Q|ATP6AP2_ENST00000544975.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	18					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						TTTGGGGAACGAGTTTAGTAT	0.378																																																	0													67	64	65					X																	40448252		2203	4300	6503	SO:0001583	missense	0			AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"prorenin receptor", "renin receptor"	300556	"ATPase, H+ transporting, lysosomal interacting protein 2"	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.52G>C	X.37:g.40448252G>C	ENSP00000367697:p.Glu18Gln		B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	pfam_Renin_rcpt	p.E18Q	ENST00000378438.4	37	c.52	CCDS14252.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.04|14.04	2.418189|2.418189	0.42918|0.42918	.|.	.|.	ENSG00000182220|ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000436783;ENST00000535777;ENST00000538655|ENST00000423649	T;T;T;T|.	0.74632|.	-0.86;1.38;0.78;-0.86|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.135681|.	0.56097|.	D|.	0.000035|.	T|T	0.59838|0.59838	0.2223|0.2223	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	P;P;B|.	0.39551|.	0.649;0.678;0.076|.	B;B;B|.	0.35073|.	0.195;0.145;0.026|.	T|T	0.57757|0.57757	-0.7756|-0.7756	10|5	0.13108|.	T|.	0.6|.	-11.9908|-11.9908	10.4772|10.4772	0.44672|0.44672	0.0923:0.0:0.9077:0.0|0.0923:0.0:0.9077:0.0	.|.	18;18;18|.	B7Z1I9;B7Z9I3;O75787|.	.;.;RENR_HUMAN|.	Q|P	18;18;50;18;18|36	ENSP00000438415:E18Q;ENSP00000367697:E18Q;ENSP00000403969:E50Q;ENSP00000441536:E18Q|.	ENSP00000367697:E18Q|.	E|R	+|+	1|2	0|0	ATP6AP2|ATP6AP2	40333196|40333196	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.983000|0.983000	0.72400|0.72400	4.096000|4.096000	0.57734|0.57734	2.213000|2.213000	0.71641|0.71641	0.529000|0.529000	0.55759|0.55759	GAG|CGA	ATP6AP2	-	NULL	ENSG00000182220		0.378	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP2	HGNC	protein_coding	OTTHUMT00000060679.1	-	0	21	0	G	NM_005765		40448252	1	tier1	-	no_errors	ENST00000378438	ensembl	human	known	74_37	missense	28.95	27	11	SNP	0.990	C	C	40448252	G	C	40448252	3	2	143	1	0	0	0	0	1	0	0	0	1168	1059	37	5	58	5	ATP6AP2	23	40448252	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	8922794	40448252	114822308	219	36395											
PHF8	23133	genome.wustl.edu	37	chrX	54040952	54040952	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacaagttttcgacccatGacagctttcgaacaatcttc	11	11	6	13	2	1	1	0	1	1	0	4	3	1	1	2	0	2	2	2	0	3	4			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chrX:54040952G>T	ENST00000357988.5	-	7	1107	c.749C>A	c.(748-750)tCa>tAa	p.S250*	PHF8_ENST00000338946.6_Nonsense_Mutation_p.S214*|PHF8_ENST00000338154.6_Nonsense_Mutation_p.S214*|PHF8_ENST00000322659.8_Nonsense_Mutation_p.S214*	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	250	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TTCGACCCATGACAGCTTTCG	0.468																																																	0													129	84	99					X																	54040952		2203	4300	6503	SO:0001587	stop_gained	0			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.749C>A	X.37:g.54040952G>T	ENSP00000350676:p.Ser250*		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.S250*	ENST00000357988.5	37	c.749	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.367772|11.367772	0.99552|0.99552	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282|ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659	.|.	.|.	.|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.128522	.|0.53938	.|D	.|0.000043	T|.	0.45558|.	0.1348|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42916|.	-0.9423|.	3|.	.|0.05620	.|T	.|0.96	-9.0493|-9.0493	16.8548|16.8548	0.86003|0.86003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	N|X	118|250;214;214;244;214	.|.	.|ENSP00000319473:S214X	H|S	-|-	1|2	0|0	PHF8|PHF8	54057677|54057677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.833000|9.833000	0.99426|0.99426	2.241000|2.241000	0.73720|0.73720	0.494000|0.494000	0.49563|0.49563	CAT|TCA	PHF8	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000172943		0.468	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	-	0	34	0	G	NM_015107		54040952	-1	tier1	-	no_errors	ENST00000357988	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	1.000	T	T	54040952	G	T	54040952	4	4	143	1	0	0	0	0	0	1	0	0	11879	1294	45	3	2667	3	PHF8	23	54040952	Nonsense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	13592700	54040952	101229608	220	36396											
FAM120C	54954	genome.wustl.edu	37	chrX	54114227	54114227	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagagatactcgctctcgGcctgctttaattagcttgct	8	13	8	12	2	1	1	0	0	1	1	3	2	1	1	2	1	4	4	2	1	3	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chrX:54114227G>T	ENST00000375180.2	-	12	2654	c.2598C>A	c.(2596-2598)ggC>ggA	p.G866G	FAM120C_ENST00000328235.4_Intron	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	866							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTCGCTCTCGGCCTGCTTTAA	0.527																																																	0													90	77	82					X																	54114227		2203	4300	6503	SO:0001819	synonymous_variant	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2598C>A	X.37:g.54114227G>T			B2RMT7	Silent	SNP	NULL	p.G866	ENST00000375180.2	37	c.2598	CCDS14356.1	X																																																																																			FAM120C	-	NULL	ENSG00000184083		0.527	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	-	0	24	0	G	NM_017848		54114227	-1	tier1	-	no_errors	ENST00000375180	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.979	T	T	54114227	G	T	54114227	2	4	143	1	0	0	0	0	0	0	0	1	5437	1190	42	3		3	FAM120C	23	54114227	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	73275	54114227	101156333	221	36397											
ZMYM3	9203	genome.wustl.edu	37	chrX	70471418	70471418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccctcacccgttcaggcGgcttctcactcgccttcgca	4	10	7	20	4	3	0	3	0	1	0	7	0	4	0	4	2	0	3	4	2	0	3			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chrX:70471418G>T	ENST00000353904.2	-	3	888	c.701C>A	c.(700-702)cCg>cAg	p.P234Q	ZMYM3_ENST00000373998.1_Missense_Mutation_p.P234Q|ZMYM3_ENST00000373982.1_Missense_Mutation_p.P234Q|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P234Q|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P234Q|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P234Q|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P234Q|ZMYM3_ENST00000373981.1_Missense_Mutation_p.P234Q	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	234					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)					CCGTTCAGGCGGCTTCTCACT	0.587																																																	0													55	32	40					X																	70471418		2199	4293	6492	SO:0001583	missense	0			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.701C>A	X.37:g.70471418G>T	ENSP00000343909:p.Pro234Gln		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.P234Q	ENST00000353904.2	37	c.701	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	9.672	1.147105	0.21288	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.54866	1.54;0.96;1.54;1.37;1.38;0.55;0.91	4.3	2.49	0.30216	.	0.252019	0.28828	N	0.014019	T	0.27967	0.0689	N	0.14661	0.345	0.26784	N	0.969537	P;B;B	0.44690	0.841;0.084;0.024	B;B;B	0.37047	0.24;0.038;0.004	T	0.10917	-1.0609	10	0.34782	T	0.22	-2.7423	6.2856	0.21031	0.0907:0.0:0.5886:0.3207	.	234;234;234	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	Q	234	ENSP00000322845:P234Q;ENSP00000363110:P234Q;ENSP00000343909:P234Q;ENSP00000363096:P234Q;ENSP00000363100:P234Q;ENSP00000363094:P234Q;ENSP00000363093:P234Q	ENSP00000322845:P234Q	P	-	2	0	ZMYM3	70388143	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	3.116000	0.50399	0.295000	0.22570	0.425000	0.28330	CCG	ZMYM3	-	NULL	ENSG00000147130		0.587	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1		0	45	0	G	NM_201599		70471418	-1			no_errors	ENST00000373988	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.992	T	T	70471418	G	T	70471418	3	4	143	1	0	0	0	0	1	0	0	0	17749	1116	39	2	3521	2	ZMYM3	23	70471418	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	16357191	70471418	84799142	222	36398											
COL4A6	1288	genome.wustl.edu	37	chrX	107422508	107422508	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccctgttaatccttgtagGccttgttcccccggagcacc	5	12	9	15	1	0	0	0	0	0	0	2	1	2	1	6	2	2	4	6	2	2	5			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chrX:107422508G>T	ENST00000372216.4	-	26	2395	c.2295C>A	c.(2293-2295)ggC>ggA	p.G765G	COL4A6_ENST00000545689.1_Silent_p.G764G|COL4A6_ENST00000334504.7_Silent_p.G764G|COL4A6_ENST00000538570.1_Silent_p.G764G|COL4A6_ENST00000394872.2_Silent_p.G765G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	765	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATCCTTGTAGGCCTTGTTCCC	0.493									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													109	89	96					X																	107422508		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2295C>A	X.37:g.107422508G>T			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G765	ENST00000372216.4	37	c.2295	CCDS14541.1	X																																																																																			COL4A6	-	pfam_Collagen	ENSG00000197565		0.493	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	-	0	66	0	G			107422508	-1	tier1	-	no_errors	ENST00000372216	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.889	T	T	107422508	G	T	107422508	2	4	143	1	0	0	0	0	0	0	0	1	3702	1190	42	3		3	COL4A6	23	107422508	Silent	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	36951090	107422508	47848052	223	36399											
IRS4	8471	genome.wustl.edu	37	chrX	107976118	107976118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggcggagtcaaatccagCagctgcggctgctgcgccga	9	5	15	12	4	1	1	1	0	0	1	2	3	2	2	2	3	5	4	2	3	1	0			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chrX:107976118C>A	ENST00000372129.2	-	1	3533	c.3457G>T	c.(3457-3459)Gct>Tct	p.A1153S	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1153	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCAAATCCAGCAGCTGCGGCT	0.642																																																	0													30	37	35					X																	107976118		2128	4136	6264	SO:0001583	missense	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3457G>T	X.37:g.107976118C>A	ENSP00000361202:p.Ala1153Ser			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.A1153S	ENST00000372129.2	37	c.3457	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	C	6.213	0.407434	0.11754	.	.	ENSG00000133124	ENST00000372129	T	0.31247	1.5	5.25	2.38	0.29361	.	0.855610	0.10007	N	0.727703	T	0.20941	0.0504	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.12837	0.008	T	0.23154	-1.0196	10	0.46703	T	0.11	0.0893	7.1753	0.25740	0.3806:0.4615:0.1579:0.0	.	1153	O14654	IRS4_HUMAN	S	1153	ENSP00000361202:A1153S	ENSP00000361202:A1153S	A	-	1	0	IRS4	107862774	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.021000	0.12504	0.226000	0.20979	-0.237000	0.12165	GCT	IRS4	-	NULL	ENSG00000133124		0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	-	0	14	0	C	NM_003604		107976118	-1	tier1	-	no_errors	ENST00000372129	ensembl	human	known	74_37	missense	28.57	10	4	SNP	0.005	A	A	107976118	C	A	107976118	3	1	143	1	0	0	0	0	1	0	0	0	7869	710	25	3	320	3	IRS4	23	107976118	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	553610	107976118	47294442	224	36400											
ARHGAP36	158763	genome.wustl.edu	37	chrX	130220591	130220591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatccagtggaaacctctGctgaagcccgggctgctgtc	7	9	12	13	1	1	2	0	2	1	0	3	3	2	3	3	2	4	3	3	2	2	0	rs180953681		TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chrX:130220591G>A	ENST00000276211.5	+	11	1783	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A468T|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A344T	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	480					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						GGAAACCTCTGCTGAAGCCCG	0.502																																																	0													100	89	93					X																	130220591		2203	4300	6503	SO:0001583	missense	0				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.1438G>A	X.37:g.130220591G>A	ENSP00000276211:p.Ala480Thr		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A480T	ENST00000276211.5	37	c.1438	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	G	5.268	0.234887	0.09969	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10763	2.84;2.84;2.85;2.86	4.32	3.44	0.39384	.	0.142087	0.32884	N	0.005530	T	0.05364	0.0142	N	0.08118	0	0.30426	N	0.777601	B;B;B	0.19331	0.035;0.035;0.02	B;B;B	0.17722	0.019;0.019;0.008	T	0.22765	-1.0207	10	0.21014	T	0.42	.	10.5637	0.45161	0.0:0.0:0.8059:0.1941	.	449;468;480	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	T	480;468;449;344	ENSP00000276211:A480T;ENSP00000359960:A468T;ENSP00000408515:A449T;ENSP00000359959:A344T	ENSP00000276211:A480T	A	+	1	0	ARHGAP36	130048272	1.000000	0.71417	0.999000	0.59377	0.527000	0.34593	1.716000	0.37981	1.131000	0.42111	0.594000	0.82650	GCT	ARHGAP36	-	NULL	ENSG00000147256		0.502	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	-	0	31	0	G	NM_144967		130220591	1	tier1	-	no_errors	ENST00000276211	ensembl	human	known	74_37	missense	33.33	16	8	SNP	1.000	A	A	130220591	G	A	130220591	3	1	143	1	0	0	0	0	1	0	0	0	883	1319	46	3	1476	3	ARHGAP36	23	130220591	Missense_Mutation	SNP	G	TCGA-R6-A6L6-01B-11D-A33E-09	22244473	130220591	25049969	225	36401											
MAGEA8	4107	genome.wustl.edu	37	chrX	149013844	149013844	+	Silent	SNP	C	C	A	0	0	0	1	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	gagtaccgccaggcgcccggCagtgatcctgtgcgctacga	7	6	14	14	5	0	1	0	1	0	0	1	3	1	1	4	2	3	3	4	2	2	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chrX:149013844C>A	ENST00000542674.1	+	3	1319	c.798C>A	c.(796-798)ggC>ggA	p.G266G	MAGEA8_ENST00000535454.1_Silent_p.G266G|MAGEA8_ENST00000286482.1_Silent_p.G266G	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	266	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCGCCCGGCAGTGATCCTG	0.572																																																	0													113	108	110					X																	149013844		2203	4298	6501	SO:0001819	synonymous_variant	0				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.798C>A	X.37:g.149013844C>A			Q9BUN9	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.G266	ENST00000542674.1	37	c.798	CCDS14692.1	X																																																																																			MAGEA8	-	pfam_MAGE,pfscan_MAGE	ENSG00000156009		0.572	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA8	HGNC	protein_coding	OTTHUMT00000058728.1	-	0	58	0	C	NM_005364		149013844	1	tier1	-	no_errors	ENST00000286482	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.102	A	A	149013844	C	A	149013844	2	1	143	1	0	0	0	0	0	0	0	1	9207	697	25	3		3	MAGEA8	23	149013844	Silent	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09	18793253	149013844	6256716	226	36402											
USP9Y	8287	genome.wustl.edu	37	chrY	14821396	14821396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtatgacagccatcactCatggctctccagtaggaggg	11	8	11	11	0	3	1	2	1	1	0	4	2	3	2	2	3	1	3	2	3	3	2			TCGA-R6-A6L6-01B-11D-A33E-09	TCGA-R6-A6L6-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a11a03e7-daed-4928-91bd-6e39606e95be	d6ddfca3-2910-436f-be68-5307de6276a1	g.chrY:14821396C>G	ENST00000338981.3	+	3	961	c.16C>G	c.(16-18)Cat>Gat	p.H6D	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	6					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						AGCCATCACTCATGGCTCTCC	0.448																																																	0													63	67	66					Y																	14821396		596	1919	2515	SO:0001583	missense	0			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.16C>G	Y.37:g.14821396C>G	ENSP00000342812:p.His6Asp		O14601	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67	p.H6D	ENST00000338981.3	37	c.16	CCDS14781.1	Y																																																																																			USP9Y	-	NULL	ENSG00000114374		0.448	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP9Y	HGNC	protein_coding	OTTHUMT00000088703.2	-	0	17	0	C	NM_004654		14821396	1	tier1	-	no_errors	ENST00000338981	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	G	G	14821396	C	G	14821396	3	3	143	1	0	0	0	0	1	0	0	0	17140	826	29	5	18	5	USP9Y	24	14821396	Missense_Mutation	SNP	C	TCGA-R6-A6L6-01B-11D-A33E-09		14821396	44552170	227	36403											
ICMT	23463	genome.wustl.edu	37	chr1	6291979	6291979	+	Missense_Mutation	SNP	A	A	C	1	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	tacctgagttccaatactccAgtaaaaccacccgacgtaag	14	8	6	13	2	0	1	0	1	0	0	2	2	2	1	5	0	3	3	5	0	6	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:6291979A>C	ENST00000343813.5	-	4	683	c.655T>G	c.(655-657)Tgg>Ggg	p.W219G		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	219					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)		CCAATACTCCAGTAAAACCAC	0.363																																																	0													98	92	94					1																	6291979		2202	4300	6502	SO:0001583	missense	0			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.655T>G	1.37:g.6291979A>C	ENSP00000343552:p.Trp219Gly		Q6FHT0	Missense_Mutation	SNP	pfam_ICMT_MeTrfase	p.W219G	ENST00000343813.5	37	c.655	CCDS61.1	1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076594	0.76415	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.85741	0.5767	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88774	0.3266	9	0.62326	D	0.03	.	15.5459	0.76101	1.0:0.0:0.0:0.0	.	219	O60725	ICMT_HUMAN	G	219;123	.	ENSP00000343552:W219G	W	-	1	0	ICMT	6214566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.737000	0.91562	2.263000	0.75096	0.533000	0.62120	TGG	ICMT	-	pfam_ICMT_MeTrfase	ENSG00000116237		0.363	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICMT	HGNC	protein_coding	OTTHUMT00000003681.1	-	0	188	0	A	NM_012405		6291979	-1	tier1	-	no_errors	ENST00000343813	ensembl	human	known	74_37	missense	16.75	174	35	SNP	1.000	C	C	6291979	A	C	6291979	3	2	144	1	0	0	0	0	1	0	0	0	7512	188	7	4	207	4	ICMT	1	6291979	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09		6291979	242958642	1	36404											
PRAMEF1	65121	genome.wustl.edu	37	chr1	12855855	12855855	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgagccggtgctcccagCtcaccaccttctactttggc	5	10	8	18	1	2	1	1	1	1	0	3	1	3	1	5	2	4	2	5	2	1	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:12855855C>A	ENST00000332296.7	+	4	1238	c.1135C>A	c.(1135-1137)Ctc>Atc	p.L379I	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L134I	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	379					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)		GTGCTCCCAGCTCACCACCTT	0.552																																																	0													48	45	46					1																	12855855		2201	4293	6494	SO:0001583	missense	0			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.1135C>A	1.37:g.12855855C>A	ENSP00000332134:p.Leu379Ile		Q9UQP2	Missense_Mutation	SNP	NULL	p.L379I	ENST00000332296.7	37	c.1135	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.185131	0.38609	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.04706	3.57;3.57	1.56	1.56	0.23342	.	0.000000	0.64402	D	0.000005	T	0.17152	0.0412	M	0.83953	2.67	0.09310	N	1	D	0.71674	0.998	D	0.72338	0.977	T	0.01105	-1.1450	10	0.59425	D	0.04	.	6.5617	0.22489	0.0:1.0:0.0:0.0	.	379	O95521	PRAM1_HUMAN	I	379;134	ENSP00000332134:L379I;ENSP00000383616:L134I	ENSP00000332134:L379I	L	+	1	0	PRAMEF1	12778442	0.218000	0.23608	0.265000	0.24526	0.072000	0.16883	2.049000	0.41288	1.170000	0.42753	0.205000	0.17691	CTC	PRAMEF1	-	NULL	ENSG00000116721		0.552	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	-	0	133	0	C	NM_023013		12855855	1	tier1	-	no_errors	ENST00000332296	ensembl	human	known	74_37	missense	46.75	123	108	SNP	0.329	A	A	12855855	C	A	12855855	3	1	144	1	0	0	0	0	1	0	0	0	12467	797	28	3	1145	3	PRAMEF1	1	12855855	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	6563876	12855855	236394766	2	36405											
EPHA8	2046	genome.wustl.edu	37	chr1	22902916	22902916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacctgcaaggagaccttCaacctctactacctggagtc	10	8	9	14	0	2	1	1	0	1	1	3	3	2	2	4	3	4	2	4	3	4	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:22902916C>A	ENST00000166244.3	+	3	438	c.366C>A	c.(364-366)ttC>ttA	p.F122L	EPHA8_ENST00000538803.1_Missense_Mutation_p.F122L|EPHA8_ENST00000374644.4_Missense_Mutation_p.F122L	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	122	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)		AGGAGACCTTCAACCTCTACT	0.607																																																	0													61	58	59					1																	22902916		2203	4300	6503	SO:0001583	missense	0			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.366C>A	1.37:g.22902916C>A	ENSP00000166244:p.Phe122Leu		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.F122L	ENST00000166244.3	37	c.366	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843252	0.71488	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.12569	2.67;2.67;2.67	4.29	2.41	0.29592	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	M	0.84156	2.68	0.53005	D	0.999961	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.04593	-1.0940	10	0.87932	D	0	.	6.9888	0.24743	0.0:0.7095:0.0:0.2905	.	122;122	P29322;P29322-2	EPHA8_HUMAN;.	L	122	ENSP00000166244:F122L;ENSP00000363775:F122L;ENSP00000440274:F122L	ENSP00000166244:F122L	F	+	3	2	EPHA8	22775503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.623000	0.46435	0.448000	0.26722	0.442000	0.29010	TTC	EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000070886		0.607	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1		0	60	0	C	NM_020526		22902916	1			no_errors	ENST00000166244	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	22902916	C	A	22902916	3	1	144	1	0	0	0	0	1	0	0	0	5189	825	29	3	376	3	EPHA8	1	22902916	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	10047061	22902916	226347705	3	36406											
FAM167B	84734	genome.wustl.edu	37	chr1	32713121	32713121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggcactgacagccaaGctgcagctgcagactcggcg	10	5	14	12	2	0	3	0	2	0	1	1	3	0	3	1	2	5	5	1	2	2	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:32713121G>T	ENST00000373582.3	+	1	288	c.99G>T	c.(97-99)aaG>aaT	p.K33N		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	33										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						TGACAGCCAAGCTGCAGCTGC	0.637																																																	0													42	53	49					1																	32713121		2026	4185	6211	SO:0001583	missense	0			BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 90"	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.99G>T	1.37:g.32713121G>T	ENSP00000362684:p.Lys33Asn		Q5TDH6	Missense_Mutation	SNP	pfam_FAM167	p.K33N	ENST00000373582.3	37	c.99	CCDS358.2	1	.	.	.	.	.	.	.	.	.	.	g	16.56	3.157150	0.57259	.	.	ENSG00000183615	ENST00000373582	T	0.46451	0.87	5.51	3.6	0.41247	.	0.070442	0.53938	U	0.000042	T	0.51822	0.1697	M	0.72118	2.19	0.43238	D	0.995143	D	0.71674	0.998	P	0.53954	0.738	T	0.57219	-0.7849	10	0.87932	D	0	10.7384	9.4709	0.38842	0.2763:0.0:0.7237:0.0	.	33	Q9BTA0	F167B_HUMAN	N	33	ENSP00000362684:K33N	ENSP00000362684:K33N	K	+	3	2	FAM167B	32485708	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	2.580000	0.46068	1.477000	0.48234	-0.258000	0.10820	AAG	FAM167B	-	NULL	ENSG00000183615		0.637	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM167B	HGNC	protein_coding	OTTHUMT00000019615.2	-	0	74	0	G	NM_032648		32713121	1	tier1	-	no_errors	ENST00000373582	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	32713121	G	T	32713121	3	4	144	1	0	0	0	0	1	0	0	0	5503	962	34	3	101	3	FAM167B	1	32713121	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	9810205	32713121	216537500	4	36407											
ZMYM1	79830	genome.wustl.edu	37	chr1	35580031	35580031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtttgaaattcctgtatcGagtgctgagtgttacaggaa	10	15	11	5	1	0	2	0	2	0	0	2	4	1	3	1	1	2	4	1	1	4	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:35580031G>A	ENST00000373330.1	+	11	2774	c.2600G>A	c.(2599-2601)cGa>cAa	p.R867Q	ZMYM1_ENST00000359858.4_Missense_Mutation_p.R867Q|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	867						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)				TTCCTGTATCGAGTGCTGAGT	0.328																																																	0													56	48	50					1																	35580031		1805	4069	5874	SO:0001583	missense	0			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.2600G>A	1.37:g.35580031G>A	ENSP00000362427:p.Arg867Gln		D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.R867Q	ENST00000373330.1	37	c.2600	CCDS41302.1	1	.	.	.	.	.	.	.	.	.	.	G	9.977	1.227061	0.22542	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.21543	2.0;2.0;2.0	4.11	3.2	0.36748	Ribonuclease H-like (1);	0.000000	0.39210	N	0.001421	T	0.34308	0.0893	L	0.54323	1.7	0.25624	N	0.986362	D;D	0.76494	0.999;0.997	D;D	0.72625	0.978;0.968	T	0.03630	-1.1018	9	.	.	.	-7.0029	6.5197	0.22269	0.2123:0.0:0.7876:0.0	.	848;867	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	Q	867;792;867	ENSP00000352920:R867Q;ENSP00000362426:R792Q;ENSP00000362427:R867Q	.	R	+	2	0	ZMYM1	35352618	1.000000	0.71417	0.977000	0.42913	0.006000	0.05464	1.378000	0.34328	1.332000	0.45431	-0.391000	0.06502	CGA	ZMYM1	-	superfamily_RNaseH-like_dom	ENSG00000197056		0.328	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	-	0	58	0	G	NM_024772		35580031	1	tier1	-	no_errors	ENST00000359858	ensembl	human	novel	74_37	missense	28.95	54	22	SNP	0.972	A	A	35580031	G	A	35580031	3	1	144	1	0	0	0	0	1	0	0	0	17747	1058	37	1	2634	1	ZMYM1	1	35580031	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2866910	35580031	213670590	5	36408											
SF3A3	10946	genome.wustl.edu	37	chr1	38442611	38442611	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagaaaagcaatgtctttgTtcctttcagtgtctctgaga	10	15	8	8	0	3	2	1	1	2	2	5	3	4	2	1	0	1	2	1	0	4	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:38442611T>G	ENST00000373019.4	-	12	1905	c.950A>C	c.(949-951)aAc>aCc	p.N317T	SF3A3_ENST00000448721.2_Missense_Mutation_p.N264T|SF3A3_ENST00000489537.1_5'Flank	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	317					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AATGTCTTTGTTCCTTTCAGT	0.393																																																	0													136	138	137					1																	38442611		2202	4300	6502	SO:0001583	missense	0			U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.950A>C	1.37:g.38442611T>G	ENSP00000362110:p.Asn317Thr		D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin	p.N317T	ENST00000373019.4	37	c.950	CCDS428.1	1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029549	0.54790	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.69	5.69	0.88448	.	0.042869	0.85682	D	0.000000	T	0.51058	0.1652	L	0.46157	1.445	0.80722	D	1	B;B	0.32245	0.009;0.361	B;B	0.31614	0.004;0.133	T	0.47209	-0.9135	9	0.23891	T	0.37	-22.648	15.6555	0.77129	0.0:0.0:0.0:1.0	.	264;317	E7EUT8;Q12874	.;SF3A3_HUMAN	T	317;264	.	ENSP00000362110:N317T	N	-	2	0	SF3A3	38215198	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.611000	0.82962	2.193000	0.70182	0.477000	0.44152	AAC	SF3A3	-	NULL	ENSG00000183431		0.393	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A3	HGNC	protein_coding	OTTHUMT00000012976.1	-	0	50	0	T	NM_006802		38442611	-1	tier1	-	no_errors	ENST00000373019	ensembl	human	known	74_37	missense	7.07	92	7	SNP	1.000	G	G	38442611	T	G	38442611	3	3	144	1	0	0	0	0	1	0	0	0	14193	1725	60	4	579	4	SF3A3	1	38442611	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	2862580	38442611	210808010	6	36409											
MACF1	23499	genome.wustl.edu	37	chr1	39800561	39800561	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagatagttcagagttcagCgatcacagggctcagattga	13	10	11	7	1	4	4	4	1	0	3	4	5	4	4	0	1	1	3	0	1	2	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:39800561C>T	ENST00000372915.3	+	36	8403	c.8316C>T	c.(8314-8316)agC>agT	p.S2772S	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.S1207S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Silent_p.S2804S|MACF1_ENST00000564288.1_Silent_p.S2767S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2772					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)			CAGAGTTCAGCGATCACAGGG	0.373																																																	0													76	76	76					1																	39800561		2203	4300	6503	SO:0001819	synonymous_variant	0			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.8316C>T	1.37:g.39800561C>T			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.S2804	ENST00000372915.3	37	c.8412		1																																																																																			MACF1	-	superfamily_RNaseH-like_dom	ENSG00000127603		0.373	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	52	0	C	NM_033044		39800561	1	tier1	-	no_errors	ENST00000567887	ensembl	human	putative	74_37	silent	39.33	54	35	SNP	0.011	T	T	39800561	C	T	39800561	2	4	144	1	0	0	0	0	0	0	0	1	9180	767	27	1		1	MACF1	1	39800561	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	1357950	39800561	209450060	7	36410											
TMEM69	51249	genome.wustl.edu	37	chr1	46158897	46158897	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tactgaagtactctttcccaGtgggactaagaaccagcaga	13	9	9	10	0	1	3	0	1	1	2	2	4	2	4	2	1	4	2	2	1	5	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:46158897G>T	ENST00000372025.4	+	3	1221	c.64G>T	c.(64-66)Gtg>Ttg	p.V22L	TMEM69_ENST00000496366.1_3'UTR|RP11-767N6.7_ENST00000430643.1_RNA	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	22						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CTCTTTCCCAGTGGGACTAAG	0.363																																																	0													162	157	159					1																	46158897		1837	4091	5928	SO:0001583	missense	0			BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 154"	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.64G>T	1.37:g.46158897G>T	ENSP00000361095:p.Val22Leu		Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	pfam_DUF3429	p.V22L	ENST00000372025.4	37	c.64	CCDS41325.1	1	.	.	.	.	.	.	.	.	.	.	G	5.022	0.189801	0.09547	.	.	ENSG00000159596	ENST00000372025	.	.	.	5.28	-8.58	0.00897	.	0.973050	0.08449	N	0.944218	T	0.18593	0.0446	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21999	-1.0229	9	0.12766	T	0.61	0.7743	5.1655	0.15082	0.6144:0.0973:0.1896:0.0987	.	22	Q5SWH9	TMM69_HUMAN	L	22	.	ENSP00000361095:V22L	V	+	1	0	TMEM69	45931484	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.999000	0.03697	-1.477000	0.01872	-0.367000	0.07326	GTG	TMEM69	-	NULL	ENSG00000159596		0.363	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM69	HGNC	protein_coding	OTTHUMT00000098390.1	-	0	29	0	G	NM_016486		46158897	1	tier1	-	no_errors	ENST00000372025	ensembl	human	known	74_37	missense	6.15	60	4	SNP	0.000	T	T	46158897	G	T	46158897	3	4	144	1	0	0	0	0	1	0	0	0	16245	1029	36	3	70	3	TMEM69	1	46158897	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6358336	46158897	203091724	8	36411											
RAD54L	8438	genome.wustl.edu	37	chr1	46738139	46738139	+	Splice_Site	SNP	T	T	C	0	1	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	tttatcctgttttctctagaTgcctgatacggaggacttct	7	17	8	9	1	2	2	0	1	2	1	4	4	3	4	2	2	2	1	2	2	3	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:46738139T>C	ENST00000371975.4	+	11	1845	c.1171T>C	c.(1171-1173)Tgc>Cgc	p.C391R	RAD54L_ENST00000442598.1_Splice_Site_p.C391R|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	391					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TTTCTCTAGATGCCTGATACG	0.423								Direct reversal of damage;Homologous recombination																																									0													125	123	124					1																	46738139		2203	4300	6503	SO:0001630	splice_region_variant	0			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1170-1T>C	1.37:g.46738139T>C			Q5TE31|Q6IUY3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.C391R	ENST00000371975.4	37	c.1171	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678357	0.68042	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93247	-3.19;-3.19	4.43	4.43	0.53597	SNF2-related (1);	0.097489	0.64402	D	0.000001	D	0.95996	0.8696	M	0.73319	2.225	0.80722	D	1	P;D	0.89917	0.847;1.0	B;D	0.85130	0.289;0.997	D	0.96482	0.9357	10	0.87932	D	0	-11.8029	14.1824	0.65583	0.0:0.0:0.0:1.0	.	211;391	G3V1N0;Q92698	.;RAD54_HUMAN	R	391;391;211	ENSP00000396113:C391R;ENSP00000361043:C391R	ENSP00000361043:C391R	C	+	1	0	RAD54L	46510726	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	7.266000	0.78452	2.009000	0.58944	0.524000	0.50904	TGC	RAD54L	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000085999		0.423	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	HGNC	protein_coding	OTTHUMT00000021272.1	-	0	34	0	T	NM_003579	Missense_Mutation	46738139	1	tier1	-	no_errors	ENST00000371975	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	C	C	46738139	T	C	46738139	5	2	144	1	0	0	0	0	0	0	1	0	13038	1478	51	4	1213	4	RAD54L	1	46738139	Splice_Site	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	579242	46738139	202512482	9	36412											
C1orf168	199920	genome.wustl.edu	37	chr1	57258301	57258301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactggaacagtatggtgtgCgctgcttgtggttggatgag	7	13	16	5	1	0	1	0	1	0	0	0	3	0	3	0	4	4	4	0	4	3	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:57258301C>T	ENST00000343433.6	-	2	265	c.185G>A	c.(184-186)cGc>cAc	p.R62H	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	62										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						GTATGGTGTGCGCTGCTTGTG	0.473																																																	0													148	141	143					1																	57258301		2203	4300	6503	SO:0001583	missense	0			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.185G>A	1.37:g.57258301C>T	ENSP00000345972:p.Arg62His		Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3_domain	p.R62H	ENST00000343433.6	37	c.185	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	C	5.451	0.268340	0.10349	.	.	ENSG00000187889	ENST00000343433	T	0.31769	1.48	4.39	-7.27	0.01461	.	1.264140	0.05447	N	0.548664	T	0.09730	0.0239	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	0.16600	-1.0397	10	0.40728	T	0.16	5.9064	0.0969	0.00045	0.3085:0.2118:0.1603:0.3195	.	62;62	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	H	62	ENSP00000345972:R62H	ENSP00000345972:R62H	R	-	2	0	C1orf168	57030889	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.230000	0.02942	-1.640000	0.01525	-2.444000	0.00210	CGC	C1orf168	-	NULL	ENSG00000187889		0.473	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	-	0	45	0	C	NM_001004303		57258301	-1	tier1	-	no_errors	ENST00000343433	ensembl	human	known	74_37	missense	8.91	92	9	SNP	0.000	T	T	57258301	C	T	57258301	3	4	144	1	0	0	0	0	1	0	0	0	2019	768	27	1	2077	1	C1orf168	1	57258301	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	10520162	57258301	191992320	10	36413											
C8A	731	genome.wustl.edu	37	chr1	57347161	57347161	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atgctcagagtgtgtacgatGccagttattatgggggccag	9	11	14	7	1	1	1	1	0	0	1	1	2	1	1	2	2	3	3	2	2	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:57347161G>T	ENST00000361249.3	+	5	604	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	170	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGTGTACGATGCCAGTTATTA	0.473																																																	0													170	172	172					1																	57347161		2203	4300	6503	SO:0001583	missense	0			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.508G>T	1.37:g.57347161G>T	ENSP00000354458:p.Ala170Ser		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.A170S	ENST00000361249.3	37	c.508	CCDS606.1	1	.	.	.	.	.	.	.	.	.	.	G	7.938	0.742059	0.15642	.	.	ENSG00000157131	ENST00000361249	T	0.75260	-0.92	5.56	3.62	0.41486	Membrane attack complex component/perforin (MACPF) domain (1);	0.267810	0.43747	D	0.000525	T	0.67040	0.2851	L	0.59912	1.85	0.29939	N	0.821202	B	0.24368	0.102	B	0.17433	0.018	T	0.58741	-0.7583	10	0.10902	T	0.67	-13.4206	14.458	0.67431	0.0:0.5796:0.4204:0.0	.	170	P07357	CO8A_HUMAN	S	170	ENSP00000354458:A170S	ENSP00000354458:A170S	A	+	1	0	C8A	57119749	0.858000	0.29795	0.901000	0.35422	0.155000	0.21991	3.538000	0.53597	1.331000	0.45412	0.655000	0.94253	GCC	C8A	-	NULL	ENSG00000157131		0.473	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8A	HGNC	protein_coding	OTTHUMT00000022890.1	-	0	44	0	G	NM_000562		57347161	1	tier1	-	no_errors	ENST00000361249	ensembl	human	known	74_37	missense	6.78	54	4	SNP	0.964	T	T	57347161	G	T	57347161	3	4	144	1	0	0	0	0	1	0	0	0	2423	1319	46	3	526	3	C8A	1	57347161	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	88860	57347161	191903460	11	36414											
LHX8	431707	genome.wustl.edu	37	chr1	75602808	75602808	+	Silent	SNP	C	C	T	0	0	0	1	1	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	agccccgagggagcgggggaCgaggactcgtgctcctcctc	6	5	16	14	4	0	0	0	0	0	0	4	5	2	3	4	4	3	1	4	4	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:75602808C>T	ENST00000294638.5	+	4	793	c.129C>T	c.(127-129)gaC>gaT	p.D43D	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Silent_p.D33D	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	43					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						GAGCGGGGGACGAGGACTCGT	0.711																																																	0													25	28	27					1																	75602808		2202	4298	6500	SO:0001819	synonymous_variant	0			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.129C>T	1.37:g.75602808C>T			E9PGE3	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.D43	ENST00000294638.5	37	c.129	CCDS30756.1	1																																																																																			LHX8	-	NULL	ENSG00000162624		0.711	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LHX8	HGNC	protein_coding	OTTHUMT00000026700.1	-	0	28	0	C	NM_001001933		75602808	1	tier1	-	no_errors	ENST00000294638	ensembl	human	known	74_37	silent	25.64	28	10	SNP	1.000	T	T	75602808	C	T	75602808	2	4	144	1	0	0	0	0	0	0	0	1	8805	535	19	1		1	LHX8	1	75602808	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	18255647	75602808	173647813	12	36415											
EVI5	7813	genome.wustl.edu	37	chr1	93101861	93101861	+	Frame_Shift_Del	DEL	A	A	-																															tccttctctagctgtagcacAaaatcttcgttgtagttgga																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:93101861delA	ENST00000370331.1	-	12	1386	c.1377delT	c.(1375-1377)tttfs	p.F459fs	EVI5_ENST00000543509.1_Frame_Shift_Del_p.F470fs|EVI5_ENST00000540033.1_Frame_Shift_Del_p.F459fs|EVI5_ENST00000491940.1_5'UTR	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	459	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|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)		GCTGTAGCACAAAATCTTCGT	0.368																																																	0													135	121	126					1																	93101861		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1377delT	1.37:g.93101861delA	ENSP00000359356:p.Phe459fs		A6NKX8|B9A6J0|Q9H1Y9	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F470fs	ENST00000370331.1	37	c.1410	CCDS30774.1	1																																																																																			EVI5	-	NULL	ENSG00000067208		0.368	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1		0	79	0	A	NM_005665		93101861	-1	tier1		no_errors	ENST00000543509	ensembl	human	known	74_37	frame_shift_del	18.75	65	15	DEL	1.000	-	-	93101861	A	-	93101861	7	5	144	1	0	1	0	1	0	0	0	0	5305	127	5	0	1083	0	EVI5	1	93101861	Frame_Shift_Del	DEL	A	TCGA-R6-A6XG-01B-11D-A33E-09	17499053	93101861	156148760	13	36416											
COL11A1	1301	genome.wustl.edu	37	chr1	103343611	103343611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaccaacttcaaatccGaacttctgattctgatcacc	13	10	5	13	1	4	2	2	2	2	0	5	4	5	3	3	1	2	0	3	1	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:103343611G>T	ENST00000370096.3	-	67	5697	c.5385C>A	c.(5383-5385)ttC>ttA	p.F1795L	COL11A1_ENST00000353414.4_Missense_Mutation_p.F1756L|COL11A1_ENST00000512756.1_Missense_Mutation_p.F1679L|COL11A1_ENST00000358392.2_Missense_Mutation_p.F1807L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1795	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)	p.F1807F(1)		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)		CTTCAAATCCGAACTTCTGAT	0.348																																																	1	Substitution - coding silent(1)	skin(1)											107	103	104					1																	103343611		2203	4300	6503	SO:0001583	missense	0			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.5385C>A	1.37:g.103343611G>T	ENSP00000359114:p.Phe1795Leu		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.F1807L	ENST00000370096.3	37	c.5421	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	g	14.52	2.559793	0.45590	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.36	1.59	0.23543	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	M	0.89840	3.065	0.58432	D	0.999998	B;B;B;B;B	0.31968	0.129;0.106;0.3;0.349;0.106	B;B;B;B;B	0.34590	0.186;0.117;0.182;0.186;0.14	T	0.73792	-0.3871	10	0.72032	D	0.01	.	11.7623	0.51910	0.8675:0.0:0.1325:0.0	.	1679;1756;1807;1795;1015	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	L	1795;1807;1756;1015;1679	ENSP00000359114:F1795L;ENSP00000351163:F1807L;ENSP00000302551:F1756L;ENSP00000426533:F1679L	ENSP00000302551:F1756L	F	-	3	2	COL11A1	103116199	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.602000	0.54066	0.145000	0.18977	-1.380000	0.01176	TTC	COL11A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000060718		0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0	38	0	G	NM_080630		103343611	-1			no_errors	ENST00000358392	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	103343611	G	T	103343611	3	4	144	1	0	0	0	0	1	0	0	0	3674	1049	37	2	39	2	COL11A1	1	103343611	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	10241750	103343611	145907010	14	36417											
VAV3	10451	genome.wustl.edu	37	chr1	108145687	108145687	+	Missense_Mutation	SNP	T	T	C	0	1	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	acttaatgctaattgcatatTctcctgactctttggtcctg	8	17	6	10	0	2	1	0	1	2	0	4	1	3	1	2	1	2	2	2	1	3	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:108145687T>C	ENST00000370056.4	-	23	2388	c.2114A>G	c.(2113-2115)gAa>gGa	p.E705G	VAV3_ENST00000544443.1_Missense_Mutation_p.E109G|VAV3_ENST00000415432.2_Missense_Mutation_p.E145G|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.E705G	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	705	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|Sufficient for interaction with ROS1.				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)		AATTGCATATTCTCCTGACTC	0.373																																																	0													161	146	151					1																	108145687		2203	4300	6503	SO:0001583	missense	0			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.2114A>G	1.37:g.108145687T>C	ENSP00000359073:p.Glu705Gly		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin	p.E705G	ENST00000370056.4	37	c.2114	CCDS785.1	1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153179	0.78114	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.73	5.73	0.89815	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	L	0.55481	1.735	0.80722	D	1	D;P;D;P	0.89917	1.0;0.597;1.0;0.837	D;P;D;P	0.97110	1.0;0.781;0.999;0.788	D	0.92788	0.6246	10	0.66056	D	0.02	.	16.0313	0.80579	0.0:0.0:0.0:1.0	.	705;109;705;145	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.;.;VAV3_HUMAN;.	G	705;705;109;145	ENSP00000359073:E705G;ENSP00000432540:E705G;ENSP00000446404:E109G;ENSP00000394897:E145G	ENSP00000359073:E705G	E	-	2	0	VAV3	107947210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.503000	0.81632	2.187000	0.69744	0.383000	0.25322	GAA	VAV3	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000134215		0.373	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	-	0	48	0	T	NM_006113		108145687	-1	tier1	-	no_errors	ENST00000370056	ensembl	human	known	74_37	missense	58.06	26	36	SNP	1.000	C	C	108145687	T	C	108145687	3	2	144	1	0	0	0	0	1	0	0	0	17182	1783	62	4	449	4	VAV3	1	108145687	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	4802076	108145687	141104934	15	36418											
EPS8L3	79574	genome.wustl.edu	37	chr1	110299762	110299762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatcacttgggctgctaggCcagcctcagggcacctggcc	7	7	13	14	0	2	1	2	0	0	1	2	1	2	1	4	4	2	3	4	4	1	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:110299762C>T	ENST00000361965.4	-	12	1101	c.995G>A	c.(994-996)gGc>gAc	p.G332D	EPS8L3_ENST00000361852.4_Missense_Mutation_p.G332D|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000369805.3_Missense_Mutation_p.G333D	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	332						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGCTGCTAGGCCAGCCTCAGG	0.592																																																	0													63	55	58					1																	110299762		2203	4300	6503	SO:0001583	missense	0			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.995G>A	1.37:g.110299762C>T	ENSP00000355255:p.Gly332Asp		A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain	p.G333D	ENST00000361965.4	37	c.998	CCDS814.1	1	.	.	.	.	.	.	.	.	.	.	C	6.008	0.369891	0.11352	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.12147	2.71;2.71;2.71	5.44	-6.76	0.01732	.	0.918119	0.09416	N	0.805110	T	0.01287	0.0042	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.11235	0.0;0.002;0.0;0.004	B;B;B;B	0.09377	0.002;0.004;0.003;0.004	T	0.47711	-0.9096	10	0.05436	T	0.98	-0.0237	15.6673	0.77238	0.0:0.1738:0.0:0.8262	.	332;332;332;333	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	D	332;333;332	ENSP00000354551:G332D;ENSP00000358820:G333D;ENSP00000355255:G332D	ENSP00000354551:G332D	G	-	2	0	EPS8L3	110101285	0.000000	0.05858	0.000000	0.03702	0.484000	0.33280	-2.147000	0.01293	-1.368000	0.02149	0.585000	0.79938	GGC	EPS8L3	-	NULL	ENSG00000198758		0.592	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1	-	0	36	0	C	NM_024526		110299762	-1	tier1	-	no_errors	ENST00000369805	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T	T	110299762	C	T	110299762	3	4	144	1	0	0	0	0	1	0	0	0	5213	739	26	3	818	3	EPS8L3	1	110299762	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	2154075	110299762	138950859	16	36419											
CASQ2	845	genome.wustl.edu	37	chr1	116268160	116268160	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	acatttcttctgggcgcaggCgacgtagagtgggtctggaa	8	10	15	8	3	3	1	0	0	3	1	3	3	3	2	0	4	0	2	0	4	2	3	rs200265771		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:116268160C>A	ENST00000261448.5	-	7	991	c.752G>T	c.(751-753)cGc>cTc	p.R251L	CASQ2_ENST00000488931.1_5'Flank|CASQ2_ENST00000456138.2_Missense_Mutation_p.R180L	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	251					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|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 heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-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)		TGGGCGCAGGCGACGTAGAGT	0.423																																																	0													107	110	109					1																	116268160		2203	4300	6503	SO:0001583	missense	0			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"Protein disulfide isomerases"	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.752G>T	1.37:g.116268160C>A	ENSP00000261448:p.Arg251Leu		B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.R251L	ENST00000261448.5	37	c.752	CCDS884.1	1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433261	0.62844	.	.	ENSG00000118729	ENST00000261448;ENST00000456138	T;T	0.75589	-0.95;-0.95	5.31	5.31	0.75309	Thioredoxin-like fold (2);	0.095159	0.64402	D	0.000002	T	0.56673	0.2001	N	0.22421	0.69	0.43471	D	0.995684	D;B	0.54964	0.969;0.083	P;B	0.50082	0.63;0.026	T	0.65475	-0.6159	10	0.72032	D	0.01	-6.7415	7.1055	0.25360	0.0:0.8032:0.0:0.1968	.	180;251	B4DIB0;O14958	.;CASQ2_HUMAN	L	251;180	ENSP00000261448:R251L;ENSP00000403858:R180L	ENSP00000261448:R251L	R	-	2	0	CASQ2	116069683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.140000	0.64807	2.937000	0.99478	0.650000	0.86243	CGC	CASQ2	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	ENSG00000118729		0.423	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ2	HGNC	protein_coding	OTTHUMT00000033091.1		0	15	0	C	NM_001232		116268160	-1			no_errors	ENST00000261448	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	A	A	116268160	C	A	116268160	3	1	144	1	0	0	0	0	1	0	0	0	2688	768	27	2	467	2	CASQ2	1	116268160	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	5968398	116268160	132982461	17	36420											
HFE2	148738	genome.wustl.edu	37	chr1	145416451	145416451	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggatccagtttgtcgattCaaactgctaaccctgggaac	10	10	11	10	1	1	0	1	0	0	0	3	3	2	2	2	3	4	2	2	3	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:145416451C>T	ENST00000336751.5	+	4	1034	c.796C>T	c.(796-798)Caa>Taa	p.Q266*	HFE2_ENST00000357836.5_Nonsense_Mutation_p.Q153*|HFE2_ENST00000497365.1_Nonsense_Mutation_p.Q40*|HFE2_ENST00000475797.1_Nonsense_Mutation_p.Q40*	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	266					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTGTCGATTCAAACTGCTAA	0.493																																																	0													109	111	110					1																	145416451		2203	4300	6503	SO:0001587	stop_gained	0			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"repulsive guidance molecule c"	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.796C>T	1.37:g.145416451C>T	ENSP00000337014:p.Gln266*		B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Nonsense_Mutation	SNP	pfam_RGM_N,pfam_RGM_C	p.Q266*	ENST00000336751.5	37	c.796	CCDS910.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.060569	0.93846	.	.	ENSG00000168509	ENST00000357836;ENST00000336751;ENST00000497365;ENST00000475797	.	.	.	5.18	0.95	0.19572	.	0.823806	0.11045	N	0.605648	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-20.1646	3.2518	0.06818	0.2944:0.3394:0.2859:0.0803	.	.	.	.	X	153;266;40;40	.	ENSP00000337014:Q266X	Q	+	1	0	HFE2	144127808	0.014000	0.17966	0.863000	0.33907	0.994000	0.84299	0.248000	0.18198	0.018000	0.15052	0.655000	0.94253	CAA	HFE2	-	pfam_RGM_C	ENSG00000168509		0.493	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HFE2	HGNC	protein_coding	OTTHUMT00000038527.1	-	0	160	0	C	NM_145277		145416451	1	tier1	-	no_errors	ENST00000336751	ensembl	human	known	74_37	nonsense	33.48	151	76	SNP	0.043	T	T	145416451	C	T	145416451	4	4	144	1	0	0	0	0	0	1	0	0	7109	827	29	3	806	3	HFE2	1	145416451	Nonsense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	29148291	145416451	103834170	18	36421											
FLG	2312	genome.wustl.edu	37	chr1	152276671	152276671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	actgctcctgagcagatccaCgatggtttctggaagcagac	10	9	11	11	1	1	3	0	1	1	2	3	5	3	4	2	2	3	4	2	2	1	1	rs7518080	byFrequency	TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:152276671C>T	ENST00000368799.1	-	3	10726	c.10691G>A	c.(10690-10692)cGt>cAt	p.R3564H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3564	Ser-rich.		R -> H (in dbSNP:rs7518080).		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)			AGCAGATCCACGATGGTTTCT	0.567									Ichthyosis				c|||	1284	0.25639	0.2685	0.2608	5008	,	,		18674	0.38		0.0875	False		,,,				2504	0.2832																0													154	193	180					1																	152276671		2203	4300	6503	SO:0001583	missense	0	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.10691G>A	1.37:g.152276671C>T	ENSP00000357789:p.Arg3564His		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.R3564H	ENST00000368799.1	37	c.10691	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	c	3.366	-0.129501	0.06753	.	.	ENSG00000143631	ENST00000368799	T	0.00816	5.66	2.89	-5.77	0.02369	.	.	.	.	.	T	0.00109	0.0003	N	0.01742	-0.745	0.09310	N	1	B	0.20459	0.045	B	0.08055	0.003	T	0.34527	-0.9825	9	0.09843	T	0.71	.	4.6793	0.12727	0.0:0.3492:0.341:0.3098	rs7518080;rs56813207	3564	P20930	FILA_HUMAN	H	3564	ENSP00000357789:R3564H	ENSP00000357789:R3564H	R	-	2	0	FLG	150543295	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.306000	0.02735	-1.611000	0.01581	-2.444000	0.00210	CGT	FLG	-	NULL	ENSG00000143631		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	110	0	C	NM_002016		152276671	-1	tier1	rs7518080	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	10.85	230	28	SNP	0.000	T	T	152276671	C	T	152276671	3	4	144	1	0	0	0	0	1	0	0	0	5944	536	19	1	1498	1	FLG	1	152276671	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	6860220	152276671	96973950	19	36422											
ADAR	103	genome.wustl.edu	37	chr1	154558301	154558301	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatctcttgtcacacgacaGcaaatagcacgggtcagatg	12	8	9	12	2	3	1	2	0	1	1	4	2	3	1	1	1	2	2	1	1	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:154558301G>A	ENST00000368474.4	-	13	3442	c.3243C>T	c.(3241-3243)tgC>tgT	p.C1081C	ADAR_ENST00000292205.5_Silent_p.C1124C|ADAR_ENST00000368471.3_Silent_p.C786C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1081	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCACACGACAGCAAATAGCAC	0.453																																																	0													117	103	108					1																	154558301		2203	4300	6503	SO:0001819	synonymous_variant	0			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3243C>T	1.37:g.154558301G>A			B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.C1124	ENST00000368474.4	37	c.3372	CCDS1071.1	1																																																																																			ADAR	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000160710		0.453	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	-	0	69	0	G	NM_001111		154558301	-1	tier1	-	no_errors	ENST00000292205	ensembl	human	known	74_37	silent	47.22	57	51	SNP	1.000	A	A	154558301	G	A	154558301	2	1	144	1	0	0	0	0	0	0	0	1	281	963	34	3		3	ADAR	1	154558301	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2281630	154558301	94692320	20	36423											
KCNN3	3782	genome.wustl.edu	37	chr1	154842330	154842331	+	In_Frame_Ins	INS	-	-	TGC																															gtggtggctgctgctgctgtINStgctgctgctgctgctgctg																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:154842330_154842331insTGC	ENST00000271915.4	-	1	425_426	c.110_111insGCA	c.(109-111)caa>caGCAa	p.37_37Q>QQ	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	37	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)	gctgctgctgttgctgctgctg	0.673																																																	0																																										SO:0001652	inframe_insertion	0			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.108_110dupGCA	1.37:g.154842337_154842339dupTGC	ENSP00000271915:p.Gln41dup		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.41in_frame_insQ	ENST00000271915.4	37	c.111_110	CCDS30880.1	1																																																																																			KCNN3	-	NULL	ENSG00000143603		0.673	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3		0	139	0	-	NM_002249		154842331	-1	tier1		no_errors	ENST00000271915	ensembl	human	novel	74_37	in_frame_ins	14.97	125	22	INS	0.893:0.882	TGC	TGC	154842331	-	TGC	154842330	7	5	144	1	0	1	1	0	0	0	0	0	8107	1722	60	0	2138	0	KCNN3	1	154842330	In_Frame_Ins	INS	-	TCGA-R6-A6XG-01B-11D-A33E-09	284029	154842330	94408291	21	36424											
HCN3	57657	genome.wustl.edu	37	chr1	155257872	155257872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctcgctctgcttggcGctcagcaggctctccagctt	3	12	10	16	2	3	0	1	0	2	0	5	0	3	0	2	2	4	7	2	2	0	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:155257872G>T	ENST00000368358.3	+	8	1951	c.1943G>T	c.(1942-1944)cGc>cTc	p.R648L	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	648					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTGCTTGGCGCTCAGCAGGC	0.697																																																	0													30	29	29					1																	155257872		2203	4300	6503	SO:0001583	missense	0			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1943G>T	1.37:g.155257872G>T	ENSP00000357342:p.Arg648Leu		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R648L	ENST00000368358.3	37	c.1943	CCDS1108.1	1	.	.	.	.	.	.	.	.	.	.	G	8.402	0.842173	0.16963	.	.	ENSG00000143630	ENST00000368358	D	0.98105	-4.72	4.91	2.94	0.34122	.	0.301944	0.22829	N	0.055126	D	0.87386	0.6164	N	0.08118	0	0.32507	N	0.538066	B;B	0.18166	0.026;0.001	B;B	0.15484	0.013;0.001	T	0.77811	-0.2449	10	0.36615	T	0.2	.	11.7302	0.51732	0.0:0.0:0.6795:0.3205	.	343;648	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	L	648	ENSP00000357342:R648L	ENSP00000357342:R648L	R	+	2	0	HCN3	153524496	0.979000	0.34478	0.946000	0.38457	0.905000	0.53344	0.887000	0.28254	0.704000	0.31869	0.557000	0.71058	CGC	HCN3	-	NULL	ENSG00000143630		0.697	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1		0	47	0	G	NM_020897		155257872	1			no_errors	ENST00000368358	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	155257872	G	T	155257872	3	4	144	1	0	0	0	0	1	0	0	0	7025	1087	38	2	1973	2	HCN3	1	155257872	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	415542	155257872	93992749	22	36425											
PEAR1	375033	genome.wustl.edu	37	chr1	156884559	156884559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccagtacggcatccccCatcacctccacttcgacgcc	7	7	6	21	3	1	0	1	0	0	0	5	1	4	0	7	1	1	2	7	1	1	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:156884559C>T	ENST00000338302.3	+	24	3308	c.3083C>T	c.(3082-3084)cCa>cTa	p.P1028L	PEAR1_ENST00000292357.7_Missense_Mutation_p.P1028L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	1028	Pro-rich.				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)					CGGCATCCCCCATCACCTCCA	0.622																																																	0													173	121	138					1																	156884559		2203	4300	6503	SO:0001583	missense	0			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.3083C>T	1.37:g.156884559C>T	ENSP00000344465:p.Pro1028Leu		Q8TEK2	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.P1028L	ENST00000338302.3	37	c.3083	CCDS30892.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306801	0.81247	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.92099	-2.97;-2.97	4.95	4.95	0.65309	.	0.000000	0.43110	D	0.000613	D	0.86789	0.6017	L	0.59436	1.845	0.54753	D	0.99998	B	0.28636	0.218	B	0.21546	0.035	D	0.87571	0.2478	10	0.87932	D	0	.	15.7102	0.77620	0.0:1.0:0.0:0.0	.	1028	Q5VY43	PEAR1_HUMAN	L	1028	ENSP00000344465:P1028L;ENSP00000292357:P1028L	ENSP00000292357:P1028L	P	+	2	0	PEAR1	155151183	1.000000	0.71417	0.992000	0.48379	0.922000	0.55478	5.319000	0.65835	2.553000	0.86117	0.591000	0.81541	CCA	PEAR1	-	NULL	ENSG00000187800		0.622	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2	-	0	99	0	C	NM_001080471		156884559	1	tier1	-	no_errors	ENST00000292357	ensembl	human	known	74_37	missense	8.33	132	12	SNP	0.990	T	T	156884559	C	T	156884559	3	4	144	1	0	0	0	0	1	0	0	0	11751	594	21	3	3169	3	PEAR1	1	156884559	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	1626687	156884559	92366062	23	36426											
CD1D	912	genome.wustl.edu	37	chr1	158152092	158152092	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagggaagtcggaactgaAgaagcaaggtcagcctgcct	12	6	14	9	1	2	2	2	1	0	1	3	4	2	4	2	3	4	1	2	3	5	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:158152092A>T	ENST00000368171.3	+	4	1098	c.599A>T	c.(598-600)aAg>aTg	p.K200M		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	200	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)					TCGGAACTGAAGAAGCAAGGT	0.532																																																	0													124	123	123					1																	158152092		2203	4300	6503	SO:0001583	missense	0			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.599A>T	1.37:g.158152092A>T	ENSP00000357153:p.Lys200Met		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.K200M	ENST00000368171.3	37	c.599	CCDS1173.1	1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.432235	0.25813	.	.	ENSG00000158473	ENST00000368171	T	0.06768	3.26	4.65	3.51	0.40186	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.263100	0.27327	N	0.019870	T	0.02342	0.0072	L	0.35854	1.095	0.09310	N	0.999999	B	0.12013	0.005	B	0.06405	0.002	T	0.39121	-0.9629	10	0.87932	D	0	-21.5368	7.1515	0.25614	0.8969:0.0:0.1031:0.0	.	200	P15813	CD1D_HUMAN	M	200	ENSP00000357153:K200M	ENSP00000357153:K200M	K	+	2	0	CD1D	156418716	0.998000	0.40836	0.984000	0.44739	0.328000	0.28507	3.893000	0.56243	0.894000	0.36317	0.528000	0.53228	AAG	CD1D	-	superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like_dom	ENSG00000158473		0.532	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1D	HGNC	protein_coding	OTTHUMT00000058340.1	-	0	114	0	A	NM_001766		158152092	1	tier1	-	no_errors	ENST00000368171	ensembl	human	known	74_37	missense	28.12	92	36	SNP	0.840	T	T	158152092	A	T	158152092	3	4	144	1	0	0	0	0	1	0	0	0	2984	72	3	5	609	5	CD1D	1	158152092	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	1267533	158152092	91098529	24	36427											
CD1C	911	genome.wustl.edu	37	chr1	158261014	158261014	+	Missense_Mutation	SNP	A	A	C	1	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	tcagggctcaggatggctggAcgagttgcagactcatggct	8	9	15	9	1	3	1	3	0	0	1	3	4	3	3	0	5	1	5	0	5	0	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:158261014A>C	ENST00000368170.3	+	2	431	c.152A>C	c.(151-153)gAc>gCc	p.D51A		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	51					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)					GGATGGCTGGACGAGTTGCAG	0.502																																																	0													106	92	97					1																	158261014		2203	4300	6503	SO:0001583	missense	0			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.152A>C	1.37:g.158261014A>C	ENSP00000357152:p.Asp51Ala		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.D51A	ENST00000368170.3	37	c.152	CCDS1175.1	1	.	.	.	.	.	.	.	.	.	.	-	13.99	2.400538	0.42613	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.14144	2.53	3.32	0.434	0.16539	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.220262	0.23149	N	0.051365	T	0.06280	0.0162	M	0.76838	2.35	0.09310	N	1	P	0.51147	0.942	B	0.40636	0.335	T	0.16867	-1.0388	10	0.72032	D	0.01	.	5.2713	0.15627	0.6288:0.0:0.3712:0.0	.	51	P29017	CD1C_HUMAN	A	51	ENSP00000357152:D51A	ENSP00000357151:D51A	D	+	2	0	CD1C	156527638	0.000000	0.05858	0.001000	0.08648	0.577000	0.36160	-1.161000	0.03144	0.060000	0.16281	0.529000	0.55759	GAC	CD1C	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158481		0.502	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1C	HGNC	protein_coding	OTTHUMT00000046351.2	-	0	40	0	A	NM_001765		158261014	1	tier1	-	no_errors	ENST00000368170	ensembl	human	known	74_37	missense	7.38	113	9	SNP	0.002	C	C	158261014	A	C	158261014	3	2	144	1	0	0	0	0	1	0	0	0	2983	275	10	4	158	4	CD1C	1	158261014	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	108922	158261014	90989607	25	36428											
OR10K2	391107	genome.wustl.edu	37	chr1	158390251	158390251	+	Frame_Shift_Del	DEL	T	T	-																															catacacaccccatgtcccaTtagcactgagtagcgcagtg																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:158390251delT	ENST00000314902.2	-	1	405	c.406delA	c.(406-408)atgfs	p.M136fs		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CCATGTCCCATTAGCACTGAG	0.502																																																	0													183	175	178					1																	158390251		2203	4300	6503	SO:0001589	frameshift_variant	0			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.406delA	1.37:g.158390251delT	ENSP00000324251:p.Met136fs			Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M136fs	ENST00000314902.2	37	c.406	CCDS30896.1	1																																																																																			OR10K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000180708		0.502	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1		0	26	0	T	NM_001004476		158390251	-1	tier1		no_errors	ENST00000314902	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.981	-	-	158390251	T	-	158390251	7	5	144	1	0	1	0	1	0	0	0	0	10953	1493	52	0	534	0	OR10K2	1	158390251	Frame_Shift_Del	DEL	T	TCGA-R6-A6XG-01B-11D-A33E-09	129237	158390251	90860370	26	36429											
SPTA1	6708	genome.wustl.edu	37	chr1	158637762	158637762	+	Missense_Mutation	SNP	T	T	C	0	1	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	aatcatctcttggccagtttTctgtatgttttccagctggg	6	17	9	9	0	3	0	1	0	2	0	5	0	4	0	2	2	1	4	2	2	2	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:158637762T>C	ENST00000368147.4	-	15	2104	c.1924A>G	c.(1924-1926)Aaa>Gaa	p.K642E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	642					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)					TGGCCAGTTTTCTGTATGTTT	0.478																																																	0													171	166	167					1																	158637762		1864	4098	5962	SO:0001583	missense	0			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.1924A>G	1.37:g.158637762T>C	ENSP00000357129:p.Lys642Glu		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.K642E	ENST00000368147.4	37	c.1924	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.062779	0.36373	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.42513	0.97;0.97	4.95	3.81	0.43845	.	0.611782	0.12628	N	0.452417	T	0.24084	0.0583	L	0.52266	1.64	0.32654	N	0.518951	B	0.25719	0.132	B	0.36766	0.232	T	0.15435	-1.0437	10	0.23891	T	0.37	.	11.0075	0.47644	0.0:0.0:0.1563:0.8437	.	642	P02549	SPTA1_HUMAN	E	642	ENSP00000357130:K642E;ENSP00000357129:K642E	ENSP00000357129:K642E	K	-	1	0	SPTA1	156904386	1.000000	0.71417	0.512000	0.27736	0.381000	0.30169	4.038000	0.57318	0.898000	0.36418	0.528000	0.53228	AAA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	36	0	T	NM_003126		158637762	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	C	C	158637762	T	C	158637762	3	2	144	1	0	0	0	0	1	0	0	0	15163	1792	62	4	5487	4	SPTA1	1	158637762	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	247511	158637762	90612859	27	36430											
MNDA	4332	genome.wustl.edu	37	chr1	158815572	158815572	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaagtcttcgacatcaacTtgaaagagaaatttgtaagg	16	11	9	5	1	2	3	1	2	1	1	3	5	2	3	0	1	1	1	0	1	5	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:158815572T>C	ENST00000368141.4	+	5	1027	c.766T>C	c.(766-768)Ttg>Ctg	p.L256L		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	256	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L256L(1)		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)					CGACATCAACTTGAAAGAGAA	0.363																																																	1	Substitution - coding silent(1)	lung(1)											85	87	87					1																	158815572		2203	4300	6503	SO:0001819	synonymous_variant	0			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.766T>C	1.37:g.158815572T>C				Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.L256	ENST00000368141.4	37	c.766	CCDS1177.1	1																																																																																			MNDA	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163563		0.363	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	HGNC	protein_coding	OTTHUMT00000059069.1	-	0	66	0	T	NM_002432		158815572	1	tier1	-	no_errors	ENST00000368141	ensembl	human	known	74_37	silent	25.00	72	24	SNP	0.058	C	C	158815572	T	C	158815572	2	2	144	1	0	0	0	0	0	0	0	1	9714	1606	56	4		4	MNDA	1	158815572	Silent	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	177810	158815572	90435049	28	36431											
POGK	57645	genome.wustl.edu	37	chr1	166818561	166818561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aaaacgcccacgccatgcggCgggcattccgaggccccaag	10	3	12	16	5	0	0	0	0	0	0	1	1	1	0	5	3	2	1	5	3	3	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:166818561C>T	ENST00000367875.1	+	5	1105	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	POGK_ENST00000367876.4_Missense_Mutation_p.R249W|POGK_ENST00000536514.1_Missense_Mutation_p.R164W|POGK_ENST00000537173.1_Missense_Mutation_p.R131W			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	249					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						CGCCATGCGGCGGGCATTCCG	0.567																																					GBM(76;192 1530 30153 48742)												0													38	41	40					1																	166818561		2203	4300	6503	SO:0001583	missense	0			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.745C>T	1.37:g.166818561C>T	ENSP00000356849:p.Arg249Trp		Q5TIJ1|Q8TE07	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R249W	ENST00000367875.1	37	c.745	CCDS1254.1	1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217841	0.58560	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000367876;ENST00000367875	T;T;T;T	0.35973	1.29;1.28;4.54;4.54	5.5	3.61	0.41365	.	0.000000	0.45361	D	0.000366	T	0.23210	0.0561	N	0.24115	0.695	0.38313	D	0.943308	D;D;D	0.89917	1.0;1.0;0.978	D;D;B	0.74674	0.984;0.927;0.265	T	0.10660	-1.0620	8	.	.	.	-27.7935	5.0097	0.14306	0.1685:0.664:0.0:0.1675	.	131;164;249	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	W	131;164;249;249	ENSP00000442763:R131W;ENSP00000441187:R164W;ENSP00000356850:R249W;ENSP00000356849:R249W	.	R	+	1	2	POGK	165085185	0.990000	0.36364	0.950000	0.38849	0.870000	0.49936	0.814000	0.27239	0.859000	0.35456	0.655000	0.94253	CGG	POGK	-	NULL	ENSG00000143157		0.567	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	POGK	HGNC	protein_coding	OTTHUMT00000082888.1	-	0	49	0	C	NM_017542		166818561	1	tier1	-	no_errors	ENST00000367875	ensembl	human	known	74_37	missense	24.14	66	21	SNP	0.922	T	T	166818561	C	T	166818561	3	4	144	1	0	0	0	0	1	0	0	0	12224	759	27	1	759	1	POGK	1	166818561	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	8002989	166818561	82432060	29	36432											
MAEL	84944	genome.wustl.edu	37	chr1	166990945	166990945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatttctggccaaaacagCagcgttcggggaagaggaat	15	7	12	7	2	1	1	0	0	1	1	2	3	1	3	1	4	3	2	1	4	6	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:166990945C>A	ENST00000367872.4	+	12	1402	c.1158C>A	c.(1156-1158)agC>agA	p.S386R	MAEL_ENST00000367870.2_Missense_Mutation_p.S355R|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	386					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						GCCAAAACAGCAGCGTTCGGG	0.383																																																	0													86	85	85					1																	166990945		2203	4300	6503	SO:0001583	missense	0			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.1158C>A	1.37:g.166990945C>A	ENSP00000356846:p.Ser386Arg		B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_CH-domain	p.S386R	ENST00000367872.4	37	c.1158	CCDS1257.1	1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447546	0.43429	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.54866	0.55;0.59	5.38	3.53	0.40419	.	0.075030	0.56097	D	0.000025	T	0.19525	0.0469	L	0.27053	0.805	0.32492	N	0.540094	P;P	0.38250	0.624;0.624	B;B	0.34590	0.186;0.186	T	0.07065	-1.0792	10	0.87932	D	0	.	7.8084	0.29217	0.0:0.8171:0.0:0.1829	.	355;386	E9JVC3;Q96JY0	.;MAEL_HUMAN	R	386;355;108	ENSP00000356846:S386R;ENSP00000356844:S355R	ENSP00000356844:S355R	S	+	3	2	MAEL	165257569	0.953000	0.32496	0.994000	0.49952	0.994000	0.84299	0.704000	0.25661	0.844000	0.35094	0.655000	0.94253	AGC	MAEL	-	NULL	ENSG00000143194		0.383	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	HGNC	protein_coding	OTTHUMT00000083239.1	-	0	54	0	C	NM_032858		166990945	1	tier1	-	no_errors	ENST00000367872	ensembl	human	known	74_37	missense	17.02	78	16	SNP	0.986	A	A	166990945	C	A	166990945	3	1	144	1	0	0	0	0	1	0	0	0	9190	709	25	3	1204	3	MAEL	1	166990945	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	172384	166990945	82259676	30	36433											
MYOC	4653	genome.wustl.edu	37	chr1	171605844	171605844	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacccaaactagttctcCacatcctggtaaattcagaa	13	11	4	13	0	2	1	1	0	1	1	5	1	4	1	4	1	2	2	4	1	6	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:171605844C>A	ENST00000037502.6	-	3	807	c.736G>T	c.(736-738)Gga>Tga	p.G246*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	246	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		G -> R (in GLC1A). {ECO:0000269|PubMed:9328473}.		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)					ACTAGTTCTCCACATCCTGGT	0.473																																																	0			GRCh37	CM971019	MYOC	M							69	73	72					1																	171605844		2203	4300	6503	SO:0001587	stop_gained	0			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.736G>T	1.37:g.171605844C>A	ENSP00000037502:p.Gly246*		B2RD84|O00620|Q7Z6Q9	Nonsense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.G246*	ENST00000037502.6	37	c.736	CCDS1297.1	1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560297	0.65538	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5426	0.91035	0.0:1.0:0.0:0.0	.	.	.	.	X	246;199;179;246	.	ENSP00000037502:G246X	G	-	1	0	MYOC	169872467	1.000000	0.71417	0.499000	0.27577	0.187000	0.23431	7.410000	0.80065	2.719000	0.93026	0.555000	0.69702	GGA	MYOC	-	smart_Olfac-like,pfscan_Olfac-like	ENSG00000034971		0.473	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2		0	42	0	C	NM_000261		171605844	-1			no_errors	ENST00000037502	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	1.000	A	A	171605844	C	A	171605844	4	1	144	1	0	0	0	0	0	1	0	0	10124	603	21	3	782	3	MYOC	1	171605844	Nonsense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	4614899	171605844	77644777	31	36434											
TNR	7143	genome.wustl.edu	37	chr1	175331871	175331871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgaggctgatttcgtattCggtagctgggttcagtctgg	5	15	15	6	2	2	2	1	2	1	0	4	2	2	2	0	4	1	6	0	4	2	6	rs546435742	byFrequency	TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:175331871C>T	ENST00000367674.2	-	14	3490	c.2782G>A	c.(2782-2784)Gaa>Aaa	p.E928K	TNR_ENST00000263525.2_Missense_Mutation_p.E928K			Q92752	TENR_HUMAN	tenascin R	928	Fibronectin type-III 7. {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)					ATTTCGTATTCGGTAGCTGGG	0.527													C|||	2	0.000399361	0	0	5008	,	,		21447	0		0	False		,,,				2504	0.002																0													216	184	195					1																	175331871		2203	4300	6503	SO:0001583	missense	0			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.2782G>A	1.37:g.175331871C>T	ENSP00000356646:p.Glu928Lys		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.E928K	ENST00000367674.2	37	c.2782	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061258	0.55432	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57436	0.4;0.4	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.053554	0.64402	D	0.000001	T	0.45196	0.1330	L	0.46885	1.475	0.58432	D	0.999999	B	0.15719	0.014	B	0.22152	0.038	T	0.30119	-0.9989	10	0.20046	T	0.44	.	12.1138	0.53854	0.0:0.9191:0.0:0.0809	.	928	Q92752	TENR_HUMAN	K	928;928;838	ENSP00000356646:E928K;ENSP00000263525:E928K	ENSP00000263525:E928K	E	-	1	0	TNR	173598494	0.995000	0.38212	0.944000	0.38274	0.523000	0.34469	3.240000	0.51368	2.625000	0.88918	0.650000	0.86243	GAA	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.527	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0	76	0	C	NM_003285		175331871	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	19.02	149	35	SNP	0.997	T	T	175331871	C	T	175331871	3	4	144	1	0	0	0	0	1	0	0	0	16385	893	31	1	1334	1	TNR	1	175331871	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	3726027	175331871	73918750	32	36435											
ASTN1	460	genome.wustl.edu	37	chr1	177133539	177133539	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgggactcacccagcacgaAgtagggcagctccgtgttct	8	7	12	14	3	2	0	1	0	1	0	3	2	3	1	3	2	2	5	3	2	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:177133539A>C	ENST00000367654.3	-	1	485	c.274T>G	c.(274-276)Ttc>Gtc	p.F92V	ASTN1_ENST00000424564.2_Missense_Mutation_p.F92V|ASTN1_ENST00000367657.3_Missense_Mutation_p.F92V|ASTN1_ENST00000361833.2_Missense_Mutation_p.F92V|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	92					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						CCCAGCACGAAGTAGGGCAGC	0.697																																																	0													33	28	30					1																	177133539		2203	4300	6503	SO:0001583	missense	0			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.274T>G	1.37:g.177133539A>C	ENSP00000356626:p.Phe92Val		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.F92V	ENST00000367654.3	37	c.274		1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324567	0.81580	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15952	2.38;2.8;2.8;2.39	3.04	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	L	0.44542	1.39	0.80722	D	1	D;D;D	0.61080	0.989;0.989;0.978	D;D;P	0.70487	0.969;0.969;0.649	T	0.02263	-1.1186	10	0.52906	T	0.07	-23.062	11.3054	0.49332	1.0:0.0:0.0:0.0	.	92;92;92	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	92	ENSP00000356629:F92V;ENSP00000354536:F92V;ENSP00000356626:F92V;ENSP00000395041:F92V	ENSP00000354536:F92V	F	-	1	0	ASTN1	175400162	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.588000	0.90813	1.404000	0.46819	0.317000	0.21355	TTC	ASTN1	-	NULL	ENSG00000152092		0.697	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0	83	0	A	NM_004319		177133539	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	29.21	63	26	SNP	1.000	C	C	177133539	A	C	177133539	3	2	144	1	0	0	0	0	1	0	0	0	1065	72	3	4	3706	4	ASTN1	1	177133539	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	1801668	177133539	72117082	33	36436											
C1orf125	126859	genome.wustl.edu	37	chr1	179437745	179437745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttaaaccttactggtattGttccacagcacatagatgtg	11	14	8	8	0	0	1	0	0	0	1	1	1	1	1	2	1	3	4	2	1	5	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:179437745G>T	ENST00000367618.3	+	17	2353	c.1966G>T	c.(1966-1968)Gtt>Ttt	p.V656F	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	656										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						TACTGGTATTGTTCCACAGCA	0.343																																																	0													96	97	97					1																	179437745		2203	4300	6503	SO:0001583	missense	0			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.1966G>T	1.37:g.179437745G>T	ENSP00000356590:p.Val656Phe		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.V656F	ENST00000367618.3	37	c.1966	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914036	0.52546	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.19105	2.17;2.18	4.42	3.48	0.39840	.	0.754534	0.12508	N	0.462759	T	0.36608	0.0973	M	0.64997	1.995	0.49051	D	0.999747	D;D	0.58268	0.965;0.982	P;P	0.58660	0.742;0.843	T	0.08249	-1.0731	10	0.52906	T	0.07	2.574	9.6875	0.40107	0.0:0.0:0.7932:0.2068	.	614;656	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	F	656;614;590	ENSP00000356590:V656F;ENSP00000391716:V590F	ENSP00000353471:V614F	V	+	1	0	AXDND1	177704368	0.096000	0.21769	0.566000	0.28421	0.012000	0.07955	1.792000	0.38754	1.407000	0.46875	0.655000	0.94253	GTT	AXDND1	-	NULL	ENSG00000162779		0.343	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	-	0	53	0	G	NM_144696		179437745	1	tier1	-	no_errors	ENST00000367618	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.673	T	T	179437745	G	T	179437745	3	4	144	1	0	0	0	0	1	0	0	0	2000	1377	48	3	2028	3	C1orf125	1	179437745	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2304206	179437745	69812876	34	36437											
HMCN1	83872	genome.wustl.edu	37	chr1	186017922	186017922	+	Silent	SNP	A	A	T	1	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	ggtcgttacacttgtgaagcAacaaatgttgctggaaaaac	14	10	10	7	1	0	1	0	1	0	0	1	2	0	2	0	2	5	4	0	2	6	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:186017922A>T	ENST00000271588.4	+	42	6757	c.6528A>T	c.(6526-6528)gcA>gcT	p.A2176A	HMCN1_ENST00000367492.2_Silent_p.A2176A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2176	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTGTGAAGCAACAAATGTTG	0.363																																																	0													100	101	101					1																	186017922		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6528A>T	1.37:g.186017922A>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.A2176	ENST00000271588.4	37	c.6528	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	40	0	A	NM_031935		186017922	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	21.31	48	13	SNP	0.957	T	T	186017922	A	T	186017922	2	4	144	1	0	0	0	0	0	0	0	1	7247	117	5	5		5	HMCN1	1	186017922	Silent	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	6580177	186017922	63232699	35	36438											
PTPN14	5784	genome.wustl.edu	37	chr1	214625231	214625231	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aaaggctcattagcgaatttGtccagatgtttcttcagagg	11	13	10	7	1	3	2	2	0	1	2	4	3	4	2	1	2	1	2	1	2	3	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:214625231G>T	ENST00000366956.5	-	3	455	c.261C>A	c.(259-261)gaC>gaA	p.D87E	PTPN14_ENST00000543945.1_Missense_Mutation_p.D87E	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	87	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)		TAGCGAATTTGTCCAGATGTT	0.473																																					Colon(92;557 1424 24372 34121 40073)												0													116	112	113					1																	214625231		2203	4300	6503	SO:0001583	missense	0			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.261C>A	1.37:g.214625231G>T	ENSP00000355923:p.Asp87Glu		Q5VSI0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.D87E	ENST00000366956.5	37	c.261	CCDS1514.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197143	0.79015	.	.	ENSG00000152104	ENST00000366956;ENST00000543945	T;T	0.76186	-1.0;-1.0	5.45	5.45	0.79879	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	L	0.31120	0.905	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.74612	-0.3607	10	0.20046	T	0.44	.	19.2695	0.94003	0.0:0.0:1.0:0.0	.	87	Q15678	PTN14_HUMAN	E	87	ENSP00000355923:D87E;ENSP00000443330:D87E	ENSP00000355923:D87E	D	-	3	2	PTPN14	212691854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.555000	0.82223	2.565000	0.86533	0.555000	0.69702	GAC	PTPN14	-	pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain	ENSG00000152104		0.473	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	-	0	38	0	G	NM_005401		214625231	-1	tier1	-	no_errors	ENST00000366956	ensembl	human	known	74_37	missense	49.48	49	48	SNP	1.000	T	T	214625231	G	T	214625231	3	4	144	1	0	0	0	0	1	0	0	0	12826	1368	48	3	3370	3	PTPN14	1	214625231	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	28607309	214625231	34625390	36	36439											
ITPKB	3707	genome.wustl.edu	37	chr1	226923281	226923281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctgagttggggtccaGggtgcgctcagggtcactgg	6	8	19	8	1	2	1	2	1	0	0	3	2	3	1	1	6	1	3	1	6	1	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:226923281G>T	ENST00000272117.3	-	1	1878	c.1879C>A	c.(1879-1881)Ctg>Atg	p.L627M	ITPKB_ENST00000429204.1_Missense_Mutation_p.L627M|ITPKB_ENST00000366784.1_Missense_Mutation_p.L627M			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	627					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)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TTGGGGTCCAGGGTGCGCTCA	0.562																																					Colon(84;110 1851 5306 33547)												0													132	123	126					1																	226923281		2203	4300	6503	SO:0001583	missense	0			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.1879C>A	1.37:g.226923281G>T	ENSP00000272117:p.Leu627Met		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	pfam_IPK	p.L627M	ENST00000272117.3	37	c.1879	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770748	0.69992	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.33654	1.76;1.76;1.4	5.77	2.44	0.29823	.	0.324112	0.28964	N	0.013580	T	0.41236	0.1150	L	0.27053	0.805	0.25314	N	0.989175	D	0.76494	0.999	D	0.68192	0.956	T	0.13602	-1.0503	10	0.49607	T	0.09	-8.9213	9.9268	0.41496	0.315:0.0:0.685:0.0	.	627	P27987	IP3KB_HUMAN	M	627	ENSP00000272117:L627M;ENSP00000411152:L627M;ENSP00000355748:L627M	ENSP00000272117:L627M	L	-	1	2	ITPKB	224989904	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.419000	0.21247	0.912000	0.36772	0.655000	0.94253	CTG	ITPKB	-	NULL	ENSG00000143772		0.562	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	-	0	58	0	G	NM_002221		226923281	-1	tier1	-	no_errors	ENST00000272117	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.996	T	T	226923281	G	T	226923281	3	4	144	1	0	0	0	0	1	0	0	0	7945	991	35	3	989	3	ITPKB	1	226923281	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	12298050	226923281	22327340	37	36440											
MRPL55	128308	genome.wustl.edu	37	chr1	228294529	228294529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcatcactgagctcctgctCgtactccttcctcgactgga	6	12	8	15	2	2	1	2	1	0	0	7	3	5	2	3	1	3	3	3	1	1	2	rs375373877		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:228294529C>T	ENST00000411464.2	-	5	1112	c.319G>A	c.(319-321)Gag>Aag	p.E107K	MRPL55_ENST00000348259.5_Missense_Mutation_p.E107K|MRPL55_ENST00000336520.3_Missense_Mutation_p.E107K|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000366731.5_Missense_Mutation_p.E143K|MRPL55_ENST00000366747.3_Missense_Mutation_p.E107K|MRPL55_ENST00000366741.1_Missense_Mutation_p.E107K|MRPL55_ENST00000295008.4_Missense_Mutation_p.E107K|MRPL55_ENST00000336300.5_Missense_Mutation_p.E107K|MRPL55_ENST00000430433.1_Missense_Mutation_p.E143K|MRPL55_ENST00000366742.1_Missense_Mutation_p.E107K|MRPL55_ENST00000366735.1_Missense_Mutation_p.E107K|MRPL55_ENST00000366740.1_Missense_Mutation_p.E107K|MRPL55_ENST00000366739.1_Missense_Mutation_p.E107K|MRPL55_ENST00000366736.1_Missense_Mutation_p.E107K|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366733.1_Missense_Mutation_p.E107K|MRPL55_ENST00000366744.1_Missense_Mutation_p.E107K|MRPL55_ENST00000391867.3_Missense_Mutation_p.E107K|MRPL55_ENST00000366732.1_Missense_Mutation_p.E104K|MRPL55_ENST00000366746.3_Missense_Mutation_p.E107K|MRPL55_ENST00000366734.1_Missense_Mutation_p.E107K|MRPL55_ENST00000366738.1_Missense_Mutation_p.E143K			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	107					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				AGCTCCTGCTCGTACTCCTTC	0.612																																																	0								C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	135	108	117		319,319,319,319,427,319,319,319	-0.9	0	1		117	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense	MRPL55	NM_181441.2,NM_181454.2,NM_181455.2,NM_181456.2,NM_181462.2,NM_181463.2,NM_181464.2,NM_181465.2	56,56,56,56,56,56,56,56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign,benign,benign,benign,benign	107/129,107/129,107/129,107/129,143/165,107/129,107/129,107/129	228294529	2,13004	2203	4300	6503	SO:0001583	missense	0			AK056987	CCDS1567.1, CCDS44325.1	1q42.13	2012-09-13			ENSG00000162910	ENSG00000162910		"Mitochondrial ribosomal proteins / large subunits"	16686	protein-coding gene	gene with protein product		611859					Standard	NM_181463		Approved		uc001hrz.4	Q7Z7F7	OTTHUMG00000037965	ENST00000411464.2:c.319G>A	1.37:g.228294529C>T	ENSP00000401737:p.Glu107Lys		Q5TBY3|Q5TBY6|Q6UWI8	Missense_Mutation	SNP	pfam_Ribosomal_L55_mit	p.E143K	ENST00000411464.2	37	c.427	CCDS1567.1	1	.	.	.	.	.	.	.	.	.	.	C	9.179	1.022991	0.19433	4.54E-4	0.0	ENSG00000162910	ENST00000366732;ENST00000366733;ENST00000366734;ENST00000366735;ENST00000366736;ENST00000366738;ENST00000366741;ENST00000366740;ENST00000366739;ENST00000366742;ENST00000366744;ENST00000348259;ENST00000366747;ENST00000366746;ENST00000295008;ENST00000336520;ENST00000336300;ENST00000430433;ENST00000391867;ENST00000366731;ENST00000411464	T;T;T;T;T;T;T;T;T;T;T;T;T;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;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	3.11	-0.931	0.10438	.	0.555880	0.16922	N	0.194035	T	0.15349	0.0370	L	0.28274	0.84	0.09310	N	1	B;B	0.27971	0.196;0.018	B;B	0.17098	0.017;0.012	T	0.13469	-1.0508	10	0.32370	T	0.25	-8.6794	5.6851	0.17799	0.0:0.5818:0.194:0.2241	.	143;107	Q7Z7F7-2;Q7Z7F7	.;RM55_HUMAN	K	104;107;107;107;107;143;107;107;107;107;107;107;107;107;107;107;107;143;107;143;107	ENSP00000355693:E104K;ENSP00000355694:E107K;ENSP00000355695:E107K;ENSP00000355696:E107K;ENSP00000355697:E107K;ENSP00000355699:E143K;ENSP00000355702:E107K;ENSP00000355701:E107K;ENSP00000355700:E107K;ENSP00000355703:E107K;ENSP00000355705:E107K;ENSP00000338189:E107K;ENSP00000355708:E107K;ENSP00000355707:E107K;ENSP00000295008:E107K;ENSP00000337342:E107K;ENSP00000337361:E107K;ENSP00000403614:E143K;ENSP00000375740:E107K;ENSP00000355692:E143K;ENSP00000401737:E107K	ENSP00000295008:E107K	E	-	1	0	MRPL55	226361152	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	-0.144000	0.10280	-0.122000	0.11766	-1.077000	0.02231	GAG	MRPL55	-	pfam_Ribosomal_L55_mit	ENSG00000162910		0.612	MRPL55-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPL55	HGNC	protein_coding	OTTHUMT00000092808.1	-	0	77	0	C	XM_059233		228294529	-1	tier1	-	no_errors	ENST00000366731	ensembl	human	known	74_37	missense	51.47	33	35	SNP	0.000	T	T	228294529	C	T	228294529	3	4	144	1	0	0	0	0	1	0	0	0	9857	893	31	1	71	1	MRPL55	1	228294529	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	1371248	228294529	20956092	38	36441											
TRIM11	81559	genome.wustl.edu	37	chr1	228582844	228582844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	caggggccggggtcaaagcgCtctgggctgtccggcagggc	5	5	19	12	3	2	0	1	0	1	0	3	0	3	0	2	7	1	3	2	7	1	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:228582844C>A	ENST00000284551.6	-	6	1247	c.969G>T	c.(967-969)gaG>gaT	p.E323D	TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000493030.2_Missense_Mutation_p.E198D	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	323	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)				GGTCAAAGCGCTCTGGGCTGT	0.706																																																	0													14	15	15					1																	228582844		2194	4293	6487	SO:0001583	missense	0			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.969G>T	1.37:g.228582844C>A	ENSP00000284551:p.Glu323Asp		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E323D	ENST00000284551.6	37	c.969	CCDS31048.1	1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832657	0.32421	.	.	ENSG00000154370	ENST00000284551	T	0.15139	2.45	5.08	3.07	0.35406	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.294250	0.24730	N	0.036062	T	0.14570	0.0352	L	0.51422	1.61	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.006;0.009	T	0.05599	-1.0875	10	0.27082	T	0.32	.	8.1966	0.31400	0.0:0.7504:0.1598:0.0898	.	322;323	Q96F44-3;Q96F44	.;TRI11_HUMAN	D	323	ENSP00000284551:E323D	ENSP00000284551:E323D	E	-	3	2	TRIM11	226649467	0.359000	0.24955	0.987000	0.45799	0.427000	0.31564	-0.014000	0.12656	1.276000	0.44395	0.655000	0.94253	GAG	TRIM11	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY	ENSG00000154370		0.706	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM11	HGNC	protein_coding	OTTHUMT00000095995.3	-	0	65	0	C	NM_145214		228582844	-1	tier1	-	no_errors	ENST00000284551	ensembl	human	known	74_37	missense	7.59	73	6	SNP	1.000	A	A	228582844	C	A	228582844	3	1	144	1	0	0	0	0	1	0	0	0	16535	796	28	3	441	3	TRIM11	1	228582844	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	288315	228582844	20667777	39	36442											
PGBD5	79605	genome.wustl.edu	37	chr1	230472966	230472966	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctggccaccatgctgtgGagctggggcttattcttcag	5	12	12	12	0	2	0	1	0	1	0	3	1	3	1	3	4	2	3	3	4	1	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:230472966G>T	ENST00000525115.1	-	4	779	c.756C>A	c.(754-756)ctC>ctA	p.L252L	PGBD5_ENST00000530424.1_5'Flank|PGBD5_ENST00000321327.2_Silent_p.L351L|PGBD5_ENST00000391860.1_Silent_p.L206L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	252						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)		CCATGCTGTGGAGCTGGGGCT	0.557																																																	0													66	57	60					1																	230472966		2203	4300	6503	SO:0001819	synonymous_variant	0			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.756C>A	1.37:g.230472966G>T			A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	NULL	p.L351	ENST00000525115.1	37	c.1053		1																																																																																			PGBD5	-	NULL	ENSG00000177614		0.557	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	-	0	78	0	G	NM_024554		230472966	-1	tier1	-	no_errors	ENST00000321327	ensembl	human	known	74_37	silent	5.13	111	6	SNP	0.435	T	T	230472966	G	T	230472966	2	4	144	1	0	0	0	0	0	0	0	1	11823	1161	41	3		3	PGBD5	1	230472966	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1890122	230472966	18777655	40	36443											
KIF26B	55083	genome.wustl.edu	37	chr1	245809487	245809487	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtgaaagctcttagcaaAaatcgagaaggaggctcagg	14	8	13	6	1	2	2	1	1	1	1	3	4	2	3	0	3	2	3	0	3	5	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:245809487A>C	ENST00000407071.2	+	10	2603	c.2163A>C	c.(2161-2163)aaA>aaC	p.K721N	KIF26B_ENST00000366518.4_Missense_Mutation_p.K340N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	721	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTCTTAGCAAAAATCGAGAAG	0.502																																																	0													70	73	72					1																	245809487		2045	4197	6242	SO:0001583	missense	0			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.2163A>C	1.37:g.245809487A>C	ENSP00000385545:p.Lys721Asn		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K721N	ENST00000407071.2	37	c.2163	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967861	0.53507	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.75260	-0.92;-0.92	5.52	-1.08	0.09936	Kinesin, motor domain (5);	.	.	.	.	T	0.80518	0.4638	M	0.81802	2.56	0.42107	D	0.991364	P;P	0.37548	0.587;0.599	P;P	0.49361	0.608;0.57	T	0.79657	-0.1712	9	0.72032	D	0.01	.	11.7116	0.51628	0.5294:0.0:0.4706:0.0	.	340;721	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	721;340;337	ENSP00000385545:K721N;ENSP00000355475:K340N	ENSP00000355475:K340N	K	+	3	2	KIF26B	243876110	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	0.948000	0.29096	-0.472000	0.06881	0.454000	0.30748	AAA	KIF26B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000162849		0.502	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1		0	41	0	A	XM_371354		245809487	1			no_errors	ENST00000407071	ensembl	human	known	74_37	missense	9.59	66	7	SNP	0.968	C	C	245809487	A	C	245809487	3	2	144	1	0	0	0	0	1	0	0	0	8322	11	1	4	2201	4	KIF26B	1	245809487	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	15336521	245809487	3441134	41	36444											
AHCTF1	25909	genome.wustl.edu	37	chr1	247013009	247013009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagatggccttgctagacCgagtcctgctgctgcgggat	8	9	13	11	2	0	2	0	0	0	2	1	4	1	3	3	2	4	3	3	2	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:247013009C>T	ENST00000391829.2	-	33	6422	c.6299G>A	c.(6298-6300)cGg>cAg	p.R2100Q	AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2109Q|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R2135Q|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2100	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTGCTAGACCGAGTCCTGCT	0.453																																					Colon(145;197 1800 4745 15099 26333)												0													153	130	138					1																	247013009		2203	4300	6503	SO:0001583	missense	0				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.6299G>A	1.37:g.247013009C>T	ENSP00000375705:p.Arg2100Gln		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.R2109Q	ENST00000391829.2	37	c.6326		1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618830	0.66787	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.47869	0.83;0.84;0.84	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	T	0.66636	0.2809	M	0.68952	2.095	0.35715	D	0.816713	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.67968	-0.5533	10	0.27082	T	0.32	-21.7075	17.1279	0.86719	0.0:1.0:0.0:0.0	.	2135;2100	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	Q	2135;2109;2100	ENSP00000355464:R2135Q;ENSP00000355465:R2109Q;ENSP00000375705:R2100Q	ENSP00000355465:R2109Q	R	-	2	0	AHCTF1	245079632	1.000000	0.71417	0.866000	0.34008	0.015000	0.08874	4.723000	0.61965	2.718000	0.92993	0.650000	0.86243	CGG	AHCTF1	-	NULL	ENSG00000153207		0.453	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		-	0	101	0	C	NM_015446		247013009	-1	tier1	-	no_errors	ENST00000326225	ensembl	human	known	74_37	missense	27.13	136	51	SNP	0.996	T	T	247013009	C	T	247013009	3	4	144	1	0	0	0	0	1	0	0	0	408	652	23	1	517	1	AHCTF1	1	247013009	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	1203522	247013009	2237612	42	36445											
ZNF496	84838	genome.wustl.edu	37	chr1	247464366	247464366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tttcccacagttcggacacaCgtaggacttcttggaggtct	8	12	10	11	2	2	0	0	0	2	0	4	3	3	3	1	4	0	2	1	4	1	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:247464366C>T	ENST00000294753.4	-	9	1683	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.V443M	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	407					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TTCGGACACACGTAGGACTTC	0.652																																																	0													48	47	48					1																	247464366		2203	4300	6503	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1219G>A	1.37:g.247464366C>T	ENSP00000294753:p.Val407Met		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.V443M	ENST00000294753.4	37	c.1327	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212966	0.58452	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.54279	0.58;0.58	4.5	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.477023	0.17996	N	0.155045	T	0.52933	0.1765	L	0.45352	1.415	0.24520	N	0.994167	D;D	0.63880	0.993;0.977	P;P	0.55923	0.759;0.787	T	0.39961	-0.9588	10	0.48119	T	0.1	-26.8964	7.7545	0.28917	0.0:0.6896:0.0:0.3104	.	443;407	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	M	407;443	ENSP00000294753:V407M;ENSP00000355454:V443M	ENSP00000294753:V407M	V	-	1	0	ZNF496	245530989	0.000000	0.05858	0.979000	0.43373	0.913000	0.54294	-2.008000	0.01456	0.590000	0.29694	0.655000	0.94253	GTG	ZNF496	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000162714		0.652	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	-	0	99	0	C	NM_032752		247464366	-1	tier1	-	no_errors	ENST00000366498	ensembl	human	known	74_37	missense	6.86	95	7	SNP	0.905	T	T	247464366	C	T	247464366	3	4	144	1	0	0	0	0	1	0	0	0	17993	536	19	1	548	1	ZNF496	1	247464366	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	451357	247464366	1786255	43	36446											
PGBD2	267002	genome.wustl.edu	37	chr1	249212492	249212492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccctctgccactcacagaCcaacacccggtgtgagaagt	10	7	9	15	1	2	2	1	1	1	2	2	3	2	2	4	1	3	0	4	1	2	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr1:249212492C>A	ENST00000329291.5	+	3	1856	c.1709C>A	c.(1708-1710)aCc>aAc	p.T570N	PGBD2_ENST00000355360.4_Missense_Mutation_p.T319N|PGBD2_ENST00000539153.1_Missense_Mutation_p.T567N	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	570										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)			CACTCACAGACCAACACCCGG	0.532																																																	0													117	122	120					1																	249212492		2203	4300	6503	SO:0001583	missense	0			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.1709C>A	1.37:g.249212492C>A	ENSP00000331643:p.Thr570Asn		B3KVR8|Q6MZF8	Missense_Mutation	SNP	NULL	p.T570N	ENST00000329291.5	37	c.1709	CCDS31128.1	1	.	.	.	.	.	.	.	.	.	.	.	9.258	1.042579	0.19748	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	D;D;D	0.84370	-1.84;-1.84;-1.84	3.12	2.2	0.27929	.	0.000000	0.51477	D	0.000098	D	0.87390	0.6165	L	0.50333	1.59	0.25176	N	0.990242	D;D	0.76494	0.999;0.995	D;P	0.83275	0.996;0.72	T	0.76836	-0.2812	10	0.72032	D	0.01	.	6.1507	0.20310	0.0:0.8587:0.0:0.1413	.	567;570	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	N	319;570;567	ENSP00000355424:T319N;ENSP00000331643:T570N;ENSP00000439950:T567N	ENSP00000331643:T570N	T	+	2	0	PGBD2	247179115	1.000000	0.71417	0.871000	0.34182	0.001000	0.01503	3.079000	0.50104	0.870000	0.35726	-0.218000	0.12543	ACC	PGBD2	-	NULL	ENSG00000185220		0.532	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGBD2	HGNC	protein_coding	OTTHUMT00000097318.1	-	0	36	0	C			249212492	1	tier1	-	no_errors	ENST00000329291	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.939	A	A	249212492	C	A	249212492	3	1	144	1	0	0	0	0	1	0	0	0	11820	507	18	3	1715	3	PGBD2	1	249212492	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	1748126	249212492	38129	44	36447											
NTSR2	23620	genome.wustl.edu	37	chr2	11810004	11810006	+	In_Frame_Del	DEL	CAG	CAG	-																															agctccaccggcacgccgacCagcagcagcagcaggcccgc																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:11810004_11810006delCAG	ENST00000306928.5	-	1	284_286	c.250_252delCTG	c.(250-252)ctgdel	p.L84del		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	84					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCACGCCGACCAGCAGCAGCAGC	0.719																																																	0										77,3647		3,71,1788						0.2	0.8			7	168,7346		5,158,3594	no	coding	NTSR2	NM_012344.3		8,229,5382	A1A1,A1R,RR		2.2358,2.0677,2.1801				245,10993				SO:0001651	inframe_deletion	0			Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.250_252delCTG	2.37:g.11810013_11810015delCAG	ENSP00000303686:p.Leu84del		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	In_Frame_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn	p.L84in_frame_del	ENST00000306928.5	37	c.252_250	CCDS1681.1	2																																																																																			NTSR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000169006		0.719	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR2	HGNC	protein_coding	OTTHUMT00000239297.1		0	42	0	CAG			11810006	-1	tier1		no_errors	ENST00000306928	ensembl	human	known	74_37	in_frame_del	9.09	40	4	DEL	0.976:0.984:0.971	-	-	11810006	CAG	-	11810004	7	5	144	1	0	1	0	1	0	0	0	0	10750	581	21	0	996	0	NTSR2	2	11810004	In_Frame_Del	DEL	CAG	TCGA-R6-A6XG-01B-11D-A33E-09		11810004	231389369	45	36448											
POMC	5443	genome.wustl.edu	37	chr2	25384477	25384477	+	Missense_Mutation	SNP	T	T	C	0	1	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	gccgctgctgccgctgctgcTgctgttgcggcggccgaatc	2	9	15	15	5	0	0	0	0	0	0	1	1	0	0	3	2	6	7	3	2	1	1	rs200380417		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:25384477T>C	ENST00000405623.1	-	3	732	c.277A>G	c.(277-279)Agc>Ggc	p.S93G	RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000380794.1_Missense_Mutation_p.S93G|POMC_ENST00000264708.3_Missense_Mutation_p.S93G|POMC_ENST00000395826.2_Missense_Mutation_p.S93G			P01189	COLI_HUMAN	proopiomelanocortin	93					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	ccgctgctgctgctgttgcGG	0.706																																					Colon(110;1515 1566 8452 10082 43216)												0													6	5	5					2																	25384477		1790	3648	5438	SO:0001583	missense	0				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.277A>G	2.37:g.25384477T>C	ENSP00000384092:p.Ser93Gly		P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.S93G	ENST00000405623.1	37	c.277	CCDS1717.1	2	.	.	.	.	.	.	.	.	.	.	T	14.04	2.417467	0.42918	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	4.68	4.68	0.58851	.	0.226724	0.44097	D	0.000500	D	0.87438	0.6177	M	0.69823	2.125	0.45272	D	0.998279	D	0.69078	0.997	D	0.75020	0.985	D	0.86337	0.1702	10	0.33141	T	0.24	-17.5951	13.2388	0.59985	0.0:0.0:0.0:1.0	.	93	P01189	COLI_HUMAN	G	93	ENSP00000370171:S93G;ENSP00000384092:S93G;ENSP00000264708:S93G;ENSP00000379170:S93G;ENSP00000387993:S93G	ENSP00000264708:S93G	S	-	1	0	POMC	25237981	1.000000	0.71417	0.989000	0.46669	0.146000	0.21551	3.558000	0.53749	1.864000	0.54056	0.260000	0.18958	AGC	POMC	-	NULL	ENSG00000115138		0.706	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	HGNC	protein_coding	OTTHUMT00000211573.3		0	18	0	T	NM_001035256		25384477	-1			no_errors	ENST00000264708	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	C	C	25384477	T	C	25384477	3	2	144	1	0	0	0	0	1	0	0	0	12281	1580	55	4	530	4	POMC	2	25384477	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	13574473	25384477	217814896	46	36449											
XDH	7498	genome.wustl.edu	37	chr2	31609316	31609316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacgaccagcttggcgtcagGgtgctgagccttgaggtcca	7	8	14	12	2	1	2	1	2	0	0	2	3	2	2	3	3	3	2	3	3	0	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:31609316G>T	ENST00000379416.3	-	9	805	c.757C>A	c.(757-759)Cct>Act	p.P253T	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	253	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				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)	TTGGCGTCAGGGTGCTGAGCC	0.617																																					Colon(66;682 1445 30109 40147)												0													109	89	96					2																	31609316		2203	4300	6503	SO:0001583	missense	0			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.757C>A	2.37:g.31609316G>T	ENSP00000368727:p.Pro253Thr		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.P253T	ENST00000379416.3	37	c.757	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967315	0.53507	.	.	ENSG00000158125	ENST00000379416	T	0.26957	1.7	5.9	5.9	0.94986	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.046236	0.85682	D	0.000000	T	0.63977	0.2557	M	0.93462	3.42	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.72110	-0.4389	10	0.66056	D	0.02	.	19.1042	0.93287	0.0:0.0:1.0:0.0	.	253	P47989	XDH_HUMAN	T	253	ENSP00000368727:P253T	ENSP00000368727:P253T	P	-	1	0	XDH	31462820	1.000000	0.71417	0.187000	0.23214	0.003000	0.03518	7.601000	0.82783	2.811000	0.96726	0.638000	0.83543	CCT	XDH	-	pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu	ENSG00000158125		0.617	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1		0	27	0	G	NM_000379		31609316	-1			no_errors	ENST00000379416	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.978	T	T	31609316	G	T	31609316	3	4	144	1	0	0	0	0	1	0	0	0	17475	1232	43	3	3356	3	XDH	2	31609316	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6224839	31609316	211590057	47	36450											
NRXN1	9378	genome.wustl.edu	37	chr2	50149314	50149314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcccaacgaccatacccGtggtgctgctggactcccgg	7	8	10	16	3	0	0	0	0	0	0	2	2	2	1	4	3	4	2	4	3	3	2	rs201871400		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:50149314G>A	ENST00000406316.2	-	22	5678	c.4202C>T	c.(4201-4203)aCg>aTg	p.T1401M	NRXN1_ENST00000406859.3_Missense_Mutation_p.T1401M|NRXN1_ENST00000342183.5_Missense_Mutation_p.T366M|NRXN1_ENST00000401710.1_Missense_Mutation_p.T419M|NRXN1_ENST00000401669.2_Missense_Mutation_p.T1431M|NRXN1_ENST00000402717.3_Missense_Mutation_p.T1423M|NRXN1_ENST00000405472.3_Missense_Mutation_p.T1423M|NRXN1_ENST00000404971.1_Missense_Mutation_p.T1471M	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1401					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)			GACCATACCCGTGGTGCTGCT	0.547																																																	0													88	73	78					2																	50149314		2203	4300	6503	SO:0001583	missense	0			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.4202C>T	2.37:g.50149314G>A	ENSP00000384311:p.Thr1401Met		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.T1423M	ENST00000406316.2	37	c.4268	CCDS54360.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.148121|4.148121	0.78001|0.78001	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000412315|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.73047	.|0.8;2.02;-0.0;-0.02;-0.71;-0.59;-0.3;-0.15	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.000000	.|0.51477	.|U	.|0.000081	D|D	0.85062|0.85062	0.5611|0.5611	M|M	0.76574|0.76574	2.34|2.34	0.53688|0.53688	D|D	0.999971|0.999971	.|D;D;D;D;D;D	.|0.89917	.|0.999;0.994;1.0;1.0;1.0;0.998	.|P;P;D;D;D;D	.|0.78314	.|0.872;0.63;0.991;0.966;0.973;0.985	D|D	0.85357|0.85357	0.1105|0.1105	5|10	.|0.87932	.|D	.|0	.|.	20.4238|20.4238	0.99064|0.99064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66;1471;366;1401;1420;63	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	W|M	134|366;320;419;1471;1401;1423;1431;1472;1423;1401	.|ENSP00000341184:T366M;ENSP00000385580:T419M;ENSP00000385142:T1471M;ENSP00000384311:T1401M;ENSP00000434015:T1423M;ENSP00000385017:T1431M;ENSP00000385434:T1423M;ENSP00000385681:T1401M	.|ENSP00000341184:T366M	R|T	-|-	1|2	2|0	NRXN1|NRXN1	50002818|50002818	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.961000|0.961000	0.63080|0.63080	9.869000|9.869000	0.99810|0.99810	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	CGG|ACG	NRXN1	-	NULL	ENSG00000179915		0.547	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0	41	0	G			50149314	-1	tier1	rs201871400	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	29.27	58	24	SNP	1.000	A	A	50149314	G	A	50149314	3	1	144	1	0	0	0	0	1	0	0	0	10704	1145	40	1	235	1	NRXN1	2	50149314	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	18539998	50149314	193050059	48	36451											
C2orf63	130162	genome.wustl.edu	37	chr2	55403045	55403045	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	taatttgtcaaagccattctGtgaacatatatttgccactt	12	16	5	8	0	2	1	1	1	1	0	2	1	2	1	2	0	3	0	2	0	5	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:55403045G>T	ENST00000401408.1	-	13	1987	c.1642C>A	c.(1642-1644)Cag>Aag	p.Q548K	CLHC1_ENST00000406076.1_Missense_Mutation_p.Q426K|CLHC1_ENST00000494539.1_5'UTR|CLHC1_ENST00000406437.2_Missense_Mutation_p.Q99K|CLHC1_ENST00000407122.1_Missense_Mutation_p.Q548K	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	548																	AAGCCATTCTGTGAACATATA	0.363																																																	0													119	114	115					2																	55403045		2203	4300	6503	SO:0001583	missense	0				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.1642C>A	2.37:g.55403045G>T	ENSP00000384869:p.Gln548Lys		B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel	p.Q548K	ENST00000401408.1	37	c.1642	CCDS33201.1	2	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633493	0.47049	.	.	ENSG00000162994	ENST00000406437;ENST00000407122;ENST00000401408;ENST00000406076	T;T;T;T	0.32515	1.45;2.21;2.21;2.21	5.91	4.99	0.66335	.	0.196908	0.35739	N	0.003008	T	0.31544	0.0800	M	0.69823	2.125	0.33312	D	0.566213	P	0.35844	0.524	B	0.31946	0.138	T	0.48258	-0.9051	10	0.37606	T	0.19	-10.8646	12.6183	0.56590	0.0:0.2516:0.7484:0.0	.	548	Q8NHS4	CB063_HUMAN	K	99;548;548;426	ENSP00000384810:Q99K;ENSP00000385778:Q548K;ENSP00000384869:Q548K;ENSP00000385512:Q426K	ENSP00000384869:Q548K	Q	-	1	0	C2orf63	55256549	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.817000	0.48034	2.814000	0.96858	0.650000	0.86243	CAG	CLHC1	-	pirsf_Clathrin_heavy-chain-rel	ENSG00000162994		0.363	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CLHC1	HGNC	protein_coding	OTTHUMT00000324412.4	-	0	40	0	G	NM_152385		55403045	-1	tier1	-	no_errors	ENST00000401408	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	55403045	G	T	55403045	3	4	144	1	0	0	0	0	1	0	0	0	2189	1386	48	3	122	3	C2orf63	2	55403045	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	5253731	55403045	187796328	49	36452											
XPO1	7514	genome.wustl.edu	37	chr2	61719269	61719269	+	Silent	SNP	G	G	T	0	0	1	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	tgaacctgaacgaaatgcctGcggcatttttgggctatttt	9	14	10	8	2	0	2	0	2	0	0	0	3	0	2	2	2	4	2	2	2	4	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:61719269G>T	ENST00000401558.2	-	16	2515	c.1788C>A	c.(1786-1788)cgC>cgA	p.R596R	XPO1_ENST00000406957.1_Silent_p.R596R|XPO1_ENST00000404992.2_Silent_p.R596R	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	596	Necessary for HTLV-1 Rex-mediated mRNA export.				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)			CGAAATGCCTGCGGCATTTTT	0.373			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0													79	80	80					2																	61719269		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1788C>A	2.37:g.61719269G>T			A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Silent	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R596	ENST00000401558.2	37	c.1788	CCDS33205.1	2																																																																																			XPO1	-	superfamily_ARM-type_fold	ENSG00000082898		0.373	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3		0	59	0	G	NM_003400		61719269	-1			no_errors	ENST00000401558	ensembl	human	known	74_37	silent	5.43	87	5	SNP	0.907	T	T	61719269	G	T	61719269	2	4	144	1	0	0	0	0	0	0	0	1	17494	1306	46	3		3	XPO1	2	61719269	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6316224	61719269	181480104	50	36453											
ALMS1	7840	genome.wustl.edu	37	chr2	73777445	73777445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcaggtgctaggcacaaGagatgatgacctctcagcca	12	7	11	11	0	2	3	2	2	1	1	3	4	2	3	2	2	3	3	2	2	2	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:73777445G>A	ENST00000264448.6	+	13	10067	c.9956G>A	c.(9955-9957)aGa>aAa	p.R3319K	ALMS1_ENST00000409009.1_Missense_Mutation_p.R3277K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3319					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						CTAGGCACAAGAGATGATGAC	0.443																																																	0													110	102	104					2																	73777445		1922	4132	6054	SO:0001583	missense	0			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.9956G>A	2.37:g.73777445G>A	ENSP00000264448:p.Arg3319Lys		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.R3319K	ENST00000264448.6	37	c.9956	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619517	0.87460	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.22336	1.96;1.96	5.83	5.83	0.93111	.	0.000000	0.53938	D	0.000050	T	0.40498	0.1119	L	0.48642	1.525	0.80722	D	1	D;D;D	0.76494	0.994;0.998;0.999	D;D;D	0.80764	0.979;0.986;0.994	T	0.05209	-1.0899	10	0.59425	D	0.04	.	15.6048	0.76658	0.0:0.0:1.0:0.0	.	3319;3277;3319	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	K	3277;3319	ENSP00000386627:R3277K;ENSP00000264448:R3319K	ENSP00000264448:R3319K	R	+	2	0	ALMS1	73630953	0.999000	0.42202	0.703000	0.30354	0.770000	0.43624	2.373000	0.44266	2.762000	0.94881	0.655000	0.94253	AGA	ALMS1	-	NULL	ENSG00000116127		0.443	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0	56	0	G	NM_015120		73777445	1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	10.00	90	10	SNP	0.975	A	A	73777445	G	A	73777445	3	1	144	1	0	0	0	0	1	0	0	0	535	942	33	3	10006	3	ALMS1	2	73777445	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	12058176	73777445	169421928	51	36454											
EIF2AK3	9451	genome.wustl.edu	37	chr2	88874663	88874663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaaggagtgcccctcatCattgccatccatagtcccat	10	11	6	14	0	3	0	3	0	0	0	5	1	5	1	5	1	2	0	5	1	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:88874663C>T	ENST00000303236.3	-	13	2639	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_Intron|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D629N	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	780	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TGCCCCTCATCATTGCCATCC	0.473																																					GBM(138;671 1851 16235 39058 45249)												0													312	308	309					2																	88874663		2203	4300	6503	SO:0001583	missense	0			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2338G>A	2.37:g.88874663C>T	ENSP00000307235:p.Asp780Asn		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D780N	ENST00000303236.3	37	c.2338	CCDS33241.1	2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167243	0.38315	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.74526	-0.73;-0.67;-0.85	6.06	5.19	0.71726	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.288248	0.42682	D	0.000667	T	0.64549	0.2608	L	0.41492	1.28	0.43069	D	0.994707	B	0.06786	0.001	B	0.06405	0.002	T	0.60979	-0.7155	10	0.40728	T	0.16	-4.4928	10.1086	0.42548	0.0:0.7914:0.1382:0.0704	.	780	Q9NZJ5	E2AK3_HUMAN	N	629;780;629;659	ENSP00000408325:D629N;ENSP00000307235:D780N;ENSP00000412076:D659N	ENSP00000307235:D780N	D	-	1	0	EIF2AK3	88655778	0.028000	0.19301	0.427000	0.26684	0.974000	0.67602	2.015000	0.40961	1.588000	0.49971	-0.127000	0.14921	GAT	EIF2AK3	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000172071		0.473	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EIF2AK3	HGNC	protein_coding	OTTHUMT00000338233.2		0	26	0	C	NM_004836		88874663	-1			no_errors	ENST00000303236	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.862	T	T	88874663	C	T	88874663	3	4	144	1	0	0	0	0	1	0	0	0	5012	826	29	3	1032	3	EIF2AK3	2	88874663	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	15097218	88874663	154324710	52	36455											
GPAT2	150763	genome.wustl.edu	37	chr2	96691728	96691728	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccagggtctgtctgccGccccagcagcttctggcact	4	10	11	16	1	3	0	0	0	3	0	4	0	4	0	4	2	4	4	4	2	0	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:96691728G>A	ENST00000434632.1	-	13	1647	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G	GPAT2_ENST00000377137.3_Silent_p.G396G|GPAT2_ENST00000359548.4_Silent_p.G396G|GPAT2_ENST00000453542.1_Silent_p.G325G			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	396					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TCTGTCTGCCGCCCCAGCAGC	0.632																																																	0													27	28	28					2																	96691728		1955	4142	6097	SO:0001819	synonymous_variant	0			BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1188C>T	2.37:g.96691728G>A			Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	smart_Plipid/glycerol_acylTrfase	p.G396	ENST00000434632.1	37	c.1188	CCDS42714.1	2																																																																																			GPAT2	-	NULL	ENSG00000186281		0.632	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAT2	HGNC	protein_coding	OTTHUMT00000338786.1	-	0	97	0	G	NM_207328		96691728	-1	tier1	-	no_errors	ENST00000359548	ensembl	human	known	74_37	silent	16.98	88	18	SNP	0.063	A	A	96691728	G	A	96691728	2	1	144	1	0	0	0	0	0	0	0	1	6615	1074	38	1		1	GPAT2	2	96691728	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	7817065	96691728	146507645	53	36456											
SLC9A4	389015	genome.wustl.edu	37	chr2	103121712	103121712	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactctgctccttttataGaatcacagcctgcgcagtaa	11	11	8	11	1	2	2	1	0	1	2	3	3	3	2	2	0	3	3	2	0	4	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:103121712G>T	ENST00000295269.4	+	4	1437		c.e4-1			NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4						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						TCCTTTTATAGAATCACAGCC	0.483																																																	0													69	63	65					2																	103121712		2203	4300	6503	SO:0001630	splice_region_variant	0				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.981-1G>T	2.37:g.103121712G>T			Q69YK0	Splice_Site	SNP	-	e4-1	ENST00000295269.4	37	c.981-1	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414617	0.62511	.	.	ENSG00000180251	ENST00000295269	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4595	0.61219	0.0:0.0:0.8435:0.1565	.	.	.	.	.	-1	.	.	.	+	.	.	SLC9A4	102488144	1.000000	0.71417	0.968000	0.41197	0.812000	0.45895	7.858000	0.86971	2.692000	0.91855	0.491000	0.48974	.	SLC9A4	-	-	ENSG00000180251		0.483	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1		0	22	0	G	NM_001011552.3	Intron	103121712	1			no_errors	ENST00000295269	ensembl	human	known	74_37	splice_site	5.88	32	2	SNP	0.999	T	T	103121712	G	T	103121712	5	4	144	1	0	0	0	0	0	0	1	0	14761	956	33	3	994	3	SLC9A4	2	103121712	Splice_Site	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6429984	103121712	140077661	54	36457											
GPR45	11250	genome.wustl.edu	37	chr2	105858480	105858480	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgggcaacactgtggtCtgcatcatcgtgtaccagag	8	11	11	11	1	2	1	1	0	1	1	4	1	3	1	2	2	3	3	2	2	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:105858480C>A	ENST00000258456.1	+	1	281	c.165C>A	c.(163-165)gtC>gtA	p.V55V		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						ACACTGTGGTCTGCATCATCG	0.622																																																	0													144	126	132					2																	105858480		2203	4300	6503	SO:0001819	synonymous_variant	0			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.165C>A	2.37:g.105858480C>A			Q6NWS4|Q6NXU6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V55	ENST00000258456.1	37	c.165	CCDS2066.1	2																																																																																			GPR45	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000135973		0.622	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR45	HGNC	protein_coding	OTTHUMT00000253348.1	-	0	64	0	C	NM_007227		105858480	1	tier1	-	no_errors	ENST00000258456	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	A	A	105858480	C	A	105858480	2	1	144	1	0	0	0	0	0	0	0	1	6722	900	32	3		3	GPR45	2	105858480	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	2736768	105858480	137340893	55	36458											
IWS1	55677	genome.wustl.edu	37	chr2	128261067	128261067	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcactgtcagatgctatGgtcttctctcttttgcctga	5	17	7	12	0	5	2	2	1	3	1	7	2	6	2	2	1	2	1	2	1	1	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:128261067G>A	ENST00000295321.4	-	4	1564	c.1305C>T	c.(1303-1305)acC>acT	p.T435T	IWS1_ENST00000455721.2_Silent_p.T442T|IWS1_ENST00000486662.1_5'Flank|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	435	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)		CAGATGCTATGGTCTTCTCTC	0.428																																																	0													160	142	148					2																	128261067		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1305C>T	2.37:g.128261067G>A			Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	pfam_TFIIS_N,superfamily_TFIIS_N	p.T435	ENST00000295321.4	37	c.1305	CCDS2146.1	2																																																																																			IWS1	-	NULL	ENSG00000163166		0.428	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2	-	0	27	0	G	NM_017969		128261067	-1	tier1	-	no_errors	ENST00000295321	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.009	A	A	128261067	G	A	128261067	2	1	144	1	0	0	0	0	0	0	0	1	7958	1335	47	3		3	IWS1	2	128261067	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	22402587	128261067	114938306	56	36459											
GPR39	2863	genome.wustl.edu	37	chr2	133402990	133402990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgctttgtgcagcgcccGttgctcttcgcgtcccggcg	1	10	13	17	7	1	0	0	0	1	0	3	0	2	0	3	1	3	4	3	1	0	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:133402990G>A	ENST00000329321.3	+	2	1642	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	391					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						TGCAGCGCCCGTTGCTCTTCG	0.622																																																	0													42	44	44					2																	133402990		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1173G>A	2.37:g.133402990G>A			B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P391	ENST00000329321.3	37	c.1173	CCDS2170.1	2																																																																																			GPR39	-	NULL	ENSG00000183840		0.622	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	HGNC	protein_coding	OTTHUMT00000254582.1	-	0	62	0	G			133402990	1	tier1	-	no_errors	ENST00000329321	ensembl	human	known	74_37	silent	29.41	36	15	SNP	0.001	A	A	133402990	G	A	133402990	2	1	144	1	0	0	0	0	0	0	0	1	6719	1132	40	1		1	GPR39	2	133402990	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	5141923	133402990	109796383	57	36460											
NCKAP5	344148	genome.wustl.edu	37	chr2	133554203	133554203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaactgggaaactcacgtGcacctcagcatcagttcgtg	10	8	11	12	2	3	0	3	0	0	0	4	1	3	1	1	2	4	4	1	2	2	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:133554203G>T	ENST00000409261.1	-	12	1280	c.907C>A	c.(907-909)Cac>Aac	p.H303N	NCKAP5_ENST00000317721.6_Missense_Mutation_p.H303N|NCKAP5_ENST00000405974.3_Missense_Mutation_p.H303N|NCKAP5_ENST00000409213.1_Missense_Mutation_p.H303N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	303										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAACTCACGTGCACCTCAGCA	0.438																																																	0													71	71	71					2																	133554203		1950	4147	6097	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.907C>A	2.37:g.133554203G>T	ENSP00000387128:p.His303Asn		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.H303N	ENST00000409261.1	37	c.907	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	G	12.63	1.997085	0.35226	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.43688	2.93;0.94;2.93;0.94	5.35	4.47	0.54385	.	0.529195	0.13743	U	0.365838	T	0.45478	0.1344	N	0.19112	0.55	0.09310	N	1	P;D	0.63880	0.867;0.993	B;P	0.59424	0.439;0.857	T	0.35822	-0.9773	10	0.59425	D	0.04	.	12.7616	0.57367	0.0755:0.0:0.9245:0.0	.	303;303	O14513-2;O14513	.;NCKP5_HUMAN	N	303	ENSP00000387128:H303N;ENSP00000386952:H303N;ENSP00000380603:H303N;ENSP00000385692:H303N	ENSP00000380603:H303N	H	-	1	0	NCKAP5	133270673	0.943000	0.32029	0.048000	0.18961	0.992000	0.81027	4.742000	0.62103	1.632000	0.50472	0.655000	0.94253	CAC	NCKAP5	-	NULL	ENSG00000176771		0.438	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	32	0	G	NM_207481		133554203	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.073	T	T	133554203	G	T	133554203	3	4	144	1	0	0	0	0	1	0	0	0	10262	1319	46	3	4858	3	NCKAP5	2	133554203	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	151213	133554203	109645170	58	36461											
LRP1B	53353	genome.wustl.edu	37	chr2	141819787	141819787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccttgttcggttcatcccatCcatgtcacatctctccactt	6	15	4	16	1	3	0	2	0	1	0	8	0	6	0	4	1	0	2	4	1	0	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:141819787C>T	ENST00000389484.3	-	8	2040	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	357					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)		TTCATCCCATCCATGTCACAT	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													145	127	133					2																	141819787		2203	4300	6503	SO:0001583	missense	0			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.1069G>A	2.37:g.141819787C>T	ENSP00000374135:p.Asp357Asn		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D357N	ENST00000389484.3	37	c.1069	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888547	0.91814	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95001	-3.58	5.63	5.63	0.86233	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.97331	0.9127	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97382	0.9983	10	0.72032	D	0.01	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	357	Q9NZR2	LRP1B_HUMAN	N	357;295	ENSP00000374135:D357N	ENSP00000374135:D357N	D	-	1	0	LRP1B	141536257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.729000	0.84864	2.805000	0.96524	0.655000	0.94253	GAT	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000168702		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2		0	8	0	C	NM_018557		141819787	-1			no_errors	ENST00000389484	ensembl	human	known	74_37	missense	50.00	2	2	SNP	1.000	T	T	141819787	C	T	141819787	3	4	144	1	0	0	0	0	1	0	0	0	8990	855	30	3	13066	3	LRP1B	2	141819787	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	8265584	141819787	101379586	59	36462											
RAPGEF4	11069	genome.wustl.edu	37	chr2	173894894	173894894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcctgtgtttcagctGtaaggagtataaaaatctga	12	13	9	7	0	3	1	1	1	2	0	4	2	3	2	1	1	1	5	1	1	5	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:173894894G>T	ENST00000397081.3	+	26	2704	c.2561G>T	c.(2560-2562)tGt>tTt	p.C854F	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.C701F|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.C710F|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.C853F|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.C854F|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.C634F|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.C701F|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.C683F	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	854	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGTTTCAGCTGTAAGGAGTAT	0.383																																																	0													113	108	109					2																	173894894		1869	4106	5975	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2561G>T	2.37:g.173894894G>T	ENSP00000380271:p.Cys854Phe		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.C854F	ENST00000397081.3	37	c.2561	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613248	0.87359	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	6.03	6.03	0.97812	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.92784	3.345	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.76575	0.965;0.988	T	0.79773	-0.1662	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	710;854	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	F	853;854;854;710;683;701;701;634;85	ENSP00000264111:C853F;ENSP00000380271:C854F;ENSP00000387104:C854F;ENSP00000380276:C710F;ENSP00000440135:C683F;ENSP00000440250:C701F;ENSP00000437384:C701F;ENSP00000438011:C634F;ENSP00000380274:C85F	ENSP00000264111:C853F	C	+	2	0	RAPGEF4	173603140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.412000	0.80091	2.854000	0.98071	0.655000	0.94253	TGT	RAPGEF4	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000091428		0.383	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	-	0	37	0	G	NM_007023		173894894	1	tier1	-	no_errors	ENST00000397081	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	173894894	G	T	173894894	3	4	144	1	0	0	0	0	1	0	0	0	13091	1377	48	3	2679	3	RAPGEF4	2	173894894	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	32075107	173894894	69304479	60	36463											
CHN1	1123	genome.wustl.edu	37	chr2	175742705	175742705	+	Missense_Mutation	SNP	T	T	A	0	1	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	ctcataaattgggtttatcgTcatcttggcaatgtattctg	9	17	8	7	1	4	0	2	0	2	0	5	0	4	0	0	2	0	3	0	2	5	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:175742705T>A	ENST00000409900.3	-	6	725	c.412A>T	c.(412-414)Acg>Tcg	p.T138S	CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Missense_Mutation_p.T138S	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	138					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GGGTTTATCGTCATCTTGGCA	0.428			T	TAF15	extraskeletal myxoid chondrosarcoma																																			Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0													221	211	214					2																	175742705		1936	4148	6084	SO:0001583	missense	0				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.412A>T	2.37:g.175742705T>A	ENSP00000386741:p.Thr138Ser		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.T138S	ENST00000409900.3	37	c.412	CCDS46455.1	2	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458710	0.63401	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	T;T	0.62639	0.01;0.01	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	L	0.42245	1.32	0.58432	D	0.999999	P;P	0.47910	0.641;0.902	B;B	0.41466	0.19;0.358	T	0.52170	-0.8611	10	0.18276	T	0.48	.	15.0746	0.72066	0.0:0.0:0.0:1.0	.	138;138	B4DV19;P15882	.;CHIN_HUMAN	S	138	ENSP00000386741:T138S;ENSP00000386470:T138S	ENSP00000386470:T138S	T	-	1	0	CHN1	175450951	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.764000	0.85297	2.150000	0.67090	0.533000	0.62120	ACG	CHN1	-	pirsf_N-chimaerin	ENSG00000128656		0.428	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	HGNC	protein_coding	OTTHUMT00000334453.1	-	0	39	0	T	NM_001822		175742705	-1	tier1	-	no_errors	ENST00000409900	ensembl	human	known	74_37	missense	54.90	46	56	SNP	1.000	A	A	175742705	T	A	175742705	3	1	144	1	0	0	0	0	1	0	0	0	3369	1667	58	5	999	5	CHN1	2	175742705	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	1847811	175742705	67456668	61	36464											
TTN	7273	genome.wustl.edu	37	chr2	179396213	179396213	+	Silent	SNP	G	G	T	0	0	1	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	ctggggacctcttcatctctGcgttgggaagcataggtggt	6	12	14	9	1	3	0	1	0	2	0	4	2	3	2	1	5	2	2	1	5	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:179396213G>T	ENST00000591111.1	-	308	100430	c.100206C>A	c.(100204-100206)cgC>cgA	p.R33402R	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.R25978R|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.R35043R|TTN_ENST00000342175.6_Silent_p.R26170R|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000359218.5_Silent_p.R26103R|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000342992.6_Silent_p.R32475R|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33402					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)			CTTCATCTCTGCGTTGGGAAG	0.488																																																	0													122	121	121					2																	179396213		1940	4156	6096	SO:0001819	synonymous_variant	0			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.100206C>A	2.37:g.179396213G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R32475	ENST00000591111.1	37	c.97425		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	40	0	G	NM_133378		179396213	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	T	T	179396213	G	T	179396213	2	4	144	1	0	0	0	0	0	0	0	1	16784	1306	46	3		3	TTN	2	179396213	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3653508	179396213	63803160	62	36465											
TTN	7273	genome.wustl.edu	37	chr2	179401681	179401681	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaaatggactcttaatGatcacaactgaggacacttc	14	10	6	11	0	3	2	2	2	1	0	4	4	3	4	1	2	1	0	1	2	3	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:179401681G>T	ENST00000591111.1	-	306	95456	c.95232C>A	c.(95230-95232)atC>atA	p.I31744I	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.I24320I|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.I33385I|TTN_ENST00000342175.6_Silent_p.I24512I|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Silent_p.I24445I|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.I30817I|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31744	Fibronectin type-III 130. {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)			GACTCTTAATGATCACAACTG	0.378																																																	0													47	45	45					2																	179401681		1869	4107	5976	SO:0001819	synonymous_variant	0			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.95232C>A	2.37:g.179401681G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I30817	ENST00000591111.1	37	c.92451		2																																																																																			TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	43	0	G	NM_133378		179401681	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	6.98	40	3	SNP	1.000	T	T	179401681	G	T	179401681	2	4	144	1	0	0	0	0	0	0	0	1	16784	1280	45	3		3	TTN	2	179401681	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	5468	179401681	63797692	63	36466											
TTN	7273	genome.wustl.edu	37	chr2	179404446	179404446	+	Silent	SNP	G	G	T	0	0	1	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	ttgatgtagacagccttcttGccacatttattttccagaac	10	15	6	10	0	1	3	0	1	1	2	2	3	2	3	3	0	3	1	3	0	3	8			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:179404446G>T	ENST00000591111.1	-	302	93647	c.93423C>A	c.(93421-93423)ggC>ggA	p.G31141G	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.G23717G|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.G32782G|TTN_ENST00000342175.6_Silent_p.G23909G|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Silent_p.G23842G|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.G30214G|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31141	Ig-like 139.				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.G23842G(1)|p.G23909G(1)|p.G23717G(1)|p.G30212G(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)			CAGCCTTCTTGCCACATTTAT	0.478																																																	4	Substitution - coding silent(4)	large_intestine(4)											122	112	115					2																	179404446		1985	4162	6147	SO:0001819	synonymous_variant	0			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.93423C>A	2.37:g.179404446G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G30214	ENST00000591111.1	37	c.90642		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	21	0	G	NM_133378		179404446	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	7.69	24	2	SNP	1.000	T	T	179404446	G	T	179404446	2	4	144	1	0	0	0	0	0	0	0	1	16784	1306	46	3		3	TTN	2	179404446	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2765	179404446	63794927	64	36467											
TTN	7273	genome.wustl.edu	37	chr2	179424606	179424608	+	In_Frame_Del	DEL	TTC	TTC	-																															ctgtcaatatcaaataaaggTtcttcttctctttcctttgc																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:179424606_179424608delTTC	ENST00000591111.1	-	276	81552_81554	c.81328_81330delGAA	c.(81328-81330)gaadel	p.E27110del	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.E19686del|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.E28751del|TTN_ENST00000342175.6_In_Frame_Del_p.E19878del|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.E19811del|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E26183del|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27110	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)			CAAATAAAGGTTCTTCTTCTCTT	0.433																																																	0																																										SO:0001651	inframe_deletion	0			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.81328_81330delGAA	2.37:g.179424612_179424614delTTC	ENSP00000465570:p.Glu27110del		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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E26183in_frame_del	ENST00000591111.1	37	c.78549_78547		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	26	0	TTC	NM_133378		179424608	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	in_frame_del	12.50	49	7	DEL	1.000:1.000:1.000	0	-	179424608	TTC	-	179424606	7	5	144	1	0	1	0	1	0	0	0	0	16784	1722	60	0	21874	0	TTN	2	179424606	In_Frame_Del	DEL	TTC	TCGA-R6-A6XG-01B-11D-A33E-09	20160	179424606	63774767	65	36468											
TTN	7273	genome.wustl.edu	37	chr2	179439379	179439379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggggtaccaggaggtccaGgaaccttaaatggatagttg	12	8	15	6	0	0	0	0	0	0	0	1	4	1	3	3	6	2	2	3	6	5	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:179439379G>T	ENST00000591111.1	-	276	66781	c.66557C>A	c.(66556-66558)cCt>cAt	p.P22186H	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14762H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P23827H|TTN_ENST00000342175.6_Missense_Mutation_p.P14954H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14887H|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21259H|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22186					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)			AGGAGGTCCAGGAACCTTAAA	0.458																																																	0													107	100	102					2																	179439379		1923	4151	6074	SO:0001583	missense	0			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.66557C>A	2.37:g.179439379G>T	ENSP00000465570:p.Pro22186His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P21259H	ENST00000591111.1	37	c.63776		2	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416018	0.42817	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.7	5.7	0.88788	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88314	0.6403	H	0.98426	4.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.998	D	0.92392	0.5922	9	0.87932	D	0	.	19.8266	0.96619	0.0:0.0:1.0:0.0	.	14762;14887;14954;22186	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	21259;14762;14954;14887;14760	ENSP00000343764:P21259H;ENSP00000434586:P14762H;ENSP00000340554:P14954H;ENSP00000352154:P14887H	ENSP00000340554:P14954H	P	-	2	0	TTN	179147625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.699000	0.92147	0.650000	0.86243	CCT	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	39	0	G	NM_133378		179439379	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	12.07	51	7	SNP	1.000	T	T	179439379	G	T	179439379	3	4	144	1	0	0	0	0	1	0	0	0	16784	1000	35	3	36647	3	TTN	2	179439379	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	14773	179439379	63759994	66	36469											
TTN	7273	genome.wustl.edu	37	chr2	179453427	179453427	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgacagggacccatcGtgttgaatgcttttcctttt	6	17	9	9	1	0	2	0	2	0	0	2	3	1	3	2	1	1	3	2	1	1	7	rs368452607		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:179453427G>T	ENST00000591111.1	-	254	58326	c.58102C>A	c.(58102-58104)Cga>Aga	p.R19368R	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.R11944R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.R21009R|TTN_ENST00000342175.6_Silent_p.R12136R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.R12069R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.R18441R|TTN-AS1_ENST00000590743.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19368	Fibronectin type-III 40. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R12136*(1)|p.R18441*(1)|p.R18439*(1)|p.R11944*(1)|p.R12069*(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)			GGGACCCATCGTGTTGAATGC	0.423																																																	5	Substitution - Nonsense(5)	lung(5)						G	,,,	1,3807		0,1,1903	164	154	157		35830,55321,36205,36406	5.3	0.9	2		157	0,8244		0,0,4122	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6025	TT,TG,GG		0.0,0.0263,0.0083	,,,	11944/26927,18441/33424,12069/27052,12136/27119	179453427	1,12051	1904	4122	6026	SO:0001819	synonymous_variant	0			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.58102C>A	2.37:g.179453427G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R18441	ENST00000591111.1	37	c.55321		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	35	0	G	NM_133378		179453427	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.985	T	T	179453427	G	T	179453427	2	4	144	1	0	0	0	0	0	0	0	1	16784	1153	40	2		2	TTN	2	179453427	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	14048	179453427	63745946	67	36470											
TTN	7273	genome.wustl.edu	37	chr2	179577515	179577515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgatgtatctacatcGaacaactccagttcagcaac	12	12	6	11	1	2	1	1	1	1	0	4	2	3	1	1	0	5	3	1	0	5	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:179577515G>T	ENST00000591111.1	-	92	26510	c.26286C>A	c.(26284-26286)ttC>ttA	p.F8762L	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F9079L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F7835L			Q8WZ42	TITIN_HUMAN	titin	12915	Ig-like 70.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTACATCGAACAACTCCA	0.423																																																	0													89	84	85					2																	179577515		1931	4124	6055	SO:0001583	missense	0			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.26286C>A	2.37:g.179577515G>T	ENSP00000465570:p.Phe8762Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.F7835L	ENST00000591111.1	37	c.23505		2	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148714	0.37923	.	.	ENSG00000155657	ENST00000342992	T	0.65732	-0.17	5.48	2.98	0.34508	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43656	0.1257	N	0.12887	0.27	0.80722	D	1	P	0.35124	0.485	B	0.36504	0.226	T	0.46843	-0.9162	9	0.87932	D	0	.	9.5076	0.39056	0.8547:0.0:0.1453:0.0	.	8762	Q8WZ42	TITIN_HUMAN	L	7835	ENSP00000343764:F7835L	ENSP00000343764:F7835L	F	-	3	2	TTN	179285760	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	2.332000	0.43903	1.002000	0.39104	-0.290000	0.09829	TTC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	29	0	G	NM_133378		179577515	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	T	T	179577515	G	T	179577515	3	4	144	1	0	0	0	0	1	0	0	0	16784	1049	37	2	77368	2	TTN	2	179577515	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	124088	179577515	63621858	68	36471											
PLCL1	5334	genome.wustl.edu	37	chr2	198950711	198950711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtttgcagcctggatatCggcatgttcccctgcgttct	6	14	10	11	2	1	0	0	0	1	0	3	1	2	1	3	2	3	5	3	2	2	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:198950711C>T	ENST00000428675.1	+	2	2868	c.2470C>T	c.(2470-2472)Cgg>Tgg	p.R824W	PLCL1_ENST00000437704.2_Missense_Mutation_p.R726W	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	824					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCCTGGATATCGGCATGTTCC	0.453																																																	0													208	183	192					2																	198950711		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2470C>T	2.37:g.198950711C>T	ENSP00000402861:p.Arg824Trp		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R824W	ENST00000428675.1	37	c.2470	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698517	0.48307	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.16597	2.33;2.33	5.5	4.6	0.57074	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.099179	0.43416	D	0.000565	T	0.43656	0.1257	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.44375	-0.9332	9	.	.	.	.	12.3071	0.54908	0.4667:0.5333:0.0:0.0	.	824;750	Q15111;B4DYZ4	PLCL1_HUMAN;.	W	824;726	ENSP00000402861:R824W;ENSP00000414138:R726W	.	R	+	1	2	PLCL1	198658956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.053000	0.49901	1.514000	0.48869	0.655000	0.94253	CGG	PLCL1	-	superfamily_C2_dom,smart_C2_dom,prints_Pinositol_PLipase_C	ENSG00000115896		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	-	0	54	0	C	NM_006226		198950711	1	tier1	-	no_errors	ENST00000428675	ensembl	human	known	74_37	missense	23.53	78	24	SNP	1.000	T	T	198950711	C	T	198950711	3	4	144	1	0	0	0	0	1	0	0	0	12078	875	31	1	2476	1	PLCL1	2	198950711	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	19373196	198950711	44248662	69	36472											
MAP2	4133	genome.wustl.edu	37	chr2	210559473	210559473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccatgtcattgtaaaaaCggacagtcagctcgaagacc	16	7	8	10	2	2	1	2	0	0	1	3	3	2	2	2	1	3	2	2	1	5	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:210559473C>T	ENST00000360351.4	+	7	3085	c.2579C>T	c.(2578-2580)aCg>aTg	p.T860M	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T856M|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	860					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATTGTAAAAACGGACAGTCAG	0.483																																					Pancreas(27;423 979 28787 29963)												0													84	78	80					2																	210559473		2203	4300	6503	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2579C>T	2.37:g.210559473C>T	ENSP00000353508:p.Thr860Met		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.T860M	ENST00000360351.4	37	c.2579	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387435	0.25031	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.18960	2.18;2.18	5.8	3.91	0.45181	MAP2/Tau projection (1);	0.464648	0.20454	N	0.092038	T	0.25938	0.0632	L	0.40543	1.245	0.22446	N	0.9991	D;D	0.56287	0.969;0.975	P;P	0.51895	0.555;0.683	T	0.04481	-1.0948	10	0.62326	D	0.03	-7.4309	10.572	0.45206	0.1329:0.7983:0.0:0.0688	.	856;860	P11137-3;P11137	.;MAP2_HUMAN	M	860;856	ENSP00000353508:T860M;ENSP00000392164:T856M	ENSP00000353508:T860M	T	+	2	0	MAP2	210267718	0.961000	0.32948	0.884000	0.34674	0.104000	0.19210	2.354000	0.44098	1.469000	0.48083	-0.145000	0.13849	ACG	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.483	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0	25	0	C	NM_001039538		210559473	1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	missense	29.82	40	17	SNP	0.735	T	T	210559473	C	T	210559473	3	4	144	1	0	0	0	0	1	0	0	0	9273	536	19	1	2593	1	MAP2	2	210559473	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	11608762	210559473	32639900	70	36473											
MAP2	4133	genome.wustl.edu	37	chr2	210588377	210588377	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtccagatgtggttccaAggataacatcaaacattcgg	13	10	9	9	1	2	1	2	0	0	1	5	2	4	2	2	3	2	1	2	3	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:210588377A>C	ENST00000360351.4	+	13	5579				RNA5SP118_ENST00000410385.1_RNA|MAP2_ENST00000199940.6_Missense_Mutation_p.K412T|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2						axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGTGGTTCCAAGGATAACATC	0.443																																					Pancreas(27;423 979 28787 29963)												0													100	98	98					2																	210588377		2203	4300	6503	SO:0001627	intron_variant	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5074-2056A>C	2.37:g.210588377A>C			Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP_tubulin-bd_rpt	p.K412T	ENST00000360351.4	37	c.1235	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399275	0.42512	.	.	ENSG00000078018	ENST00000199940	D	0.93366	-3.21	5.65	5.65	0.86999	.	.	.	.	.	D	0.92554	0.7635	L	0.52364	1.645	0.80722	D	1	P	0.41569	0.755	P	0.50896	0.653	D	0.89650	0.3869	9	0.17369	T	0.5	.	10.5518	0.45092	0.9188:0.0:0.0812:0.0	.	412	Q8IUX2	.	T	412	ENSP00000199940:K412T	ENSP00000199940:K412T	K	+	2	0	MAP2	210296622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.682000	0.54656	2.144000	0.66660	0.533000	0.62120	AAG	MAP2	-	pfam_MAP_tubulin-bd_rpt	ENSG00000078018		0.443	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0	54	0	A	NM_001039538		210588377	1	tier1	-	no_errors	ENST00000199940	ensembl	human	known	74_37	missense	25.61	61	21	SNP	1.000	C	C	210588377	A	C	210588377	1	2	144	0	1	0	0	0	0	0	0	0	9273	72	3	4		4	MAP2	2	210588377	Intron	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	28904	210588377	32610996	71	36474											
ERBB4	2066	genome.wustl.edu	37	chr2	212812173	212812173	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcaagttctttaatcCaagttcttgaagtccaaagt	12	14	6	9	0	3	1	1	1	2	0	5	1	5	1	3	0	0	2	3	0	5	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:212812173C>A	ENST00000342788.4	-	3	713	c.403G>T	c.(403-405)Gga>Tga	p.G135*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.G135*|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.G135*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	135					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)	TTCTTTAATCCAAGTTCTTGA	0.323										TSP Lung(8;0.080)																																							0													113	110	111					2																	212812173		2202	4300	6502	SO:0001587	stop_gained	0			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.403G>T	2.37:g.212812173C>A	ENSP00000342235:p.Gly135*		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G135*	ENST00000342788.4	37	c.403	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.621559|6.621559	0.97714|0.97714	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846|ENST00000260943	.|D	.|0.91521	.|-2.86	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|D	.|0.95357	.|0.8493	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.95571	.|0.8638	.|5	0.06757|0.87932	T|D	0.87|0	.|.	19.4961|19.4961	0.95073|0.95073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	135;135;135;76|134	.|ENSP00000260943:L134F	ENSP00000342235:G135X|ENSP00000260943:L134F	G|L	-|-	1|3	0|2	ERBB4|ERBB4	212520418|212520418	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.999000|5.999000	0.70665|0.70665	2.601000|2.601000	0.87937|0.87937	0.557000|0.557000	0.71058|0.71058	GGA|TTG	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000178568		0.323	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1		0	35	0	C	NM_001042599		212812173	-1			no_errors	ENST00000342788	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	1.000	A	A	212812173	C	A	212812173	4	1	144	1	0	0	0	0	0	1	0	0	5225	603	21	3	3627	3	ERBB4	2	212812173	Nonsense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	2223796	212812173	30387200	72	36475											
SERPINE2	5270	genome.wustl.edu	37	chr2	224849554	224849554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gctgatgtgtgggatgatggCagacagcggagtggagctct	8	9	18	6	1	1	3	0	2	1	1	1	6	1	6	0	4	2	3	0	4	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:224849554C>A	ENST00000258405.4	-	5	1041	c.799G>T	c.(799-801)Gcc>Tcc	p.A267S	SERPINE2_ENST00000409840.3_Missense_Mutation_p.A267S|SERPINE2_ENST00000409304.1_Missense_Mutation_p.A267S|SERPINE2_ENST00000447280.2_Missense_Mutation_p.A279S	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	267					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)		GGGATGATGGCAGACAGCGGA	0.542																																																	0													139	117	124					2																	224849554		2203	4300	6503	SO:0001583	missense	0			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.799G>T	2.37:g.224849554C>A	ENSP00000258405:p.Ala267Ser		B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.A267S	ENST00000258405.4	37	c.799	CCDS2460.1	2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209190	0.58343	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.97	5.97	0.96955	Serpin domain (3);	0.223441	0.47852	D	0.000201	T	0.80127	0.4566	L	0.35593	1.075	0.47374	D	0.999407	P;P	0.44776	0.843;0.843	P;P	0.44772	0.46;0.46	T	0.75611	-0.3258	10	0.20519	T	0.43	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	279;267	B4DIF2;P07093	.;GDN_HUMAN	S	267;267;267;279;267	ENSP00000386412:A267S;ENSP00000258405:A267S;ENSP00000386969:A267S;ENSP00000415786:A279S;ENSP00000408452:A267S	ENSP00000258405:A267S	A	-	1	0	SERPINE2	224557798	0.985000	0.35326	0.982000	0.44146	0.503000	0.33858	2.606000	0.46291	2.837000	0.97791	0.655000	0.94253	GCC	SERPINE2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000135919		0.542	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	HGNC	protein_coding	OTTHUMT00000256865.2	-	0	43	0	C	NM_006216		224849554	-1	tier1	-	no_errors	ENST00000258405	ensembl	human	known	74_37	missense	54.37	46	56	SNP	0.992	A	A	224849554	C	A	224849554	3	1	144	1	0	0	0	0	1	0	0	0	14157	710	25	3	417	3	SERPINE2	2	224849554	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	12037381	224849554	18349819	73	36476											
ECEL1	9427	genome.wustl.edu	37	chr2	233347591	233347591	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacctcctgccgaatcttcTtaactgagagctggatgctg	8	11	9	13	1	2	1	0	1	2	1	3	4	3	2	4	1	4	2	4	1	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:233347591T>C	ENST00000304546.1	-	10	1865	c.1655A>G	c.(1654-1656)aAg>aGg	p.K552R	ECEL1_ENST00000409941.1_Missense_Mutation_p.K552R	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	552					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)		CCGAATCTTCTTAACTGAGAG	0.572																																																	0													163	163	163					2																	233347591		2203	4300	6503	SO:0001583	missense	0			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.1655A>G	2.37:g.233347591T>C	ENSP00000302051:p.Lys552Arg		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.K552R	ENST00000304546.1	37	c.1655	CCDS2493.1	2	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784882	0.49997	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	D;D	0.81996	-1.56;-1.56	5.25	5.25	0.73442	.	0.053197	0.64402	D	0.000001	T	0.72708	0.3494	L	0.29908	0.895	0.53688	D	0.999979	B;B	0.17465	0.012;0.022	B;B	0.17433	0.013;0.018	T	0.67684	-0.5607	10	0.33940	T	0.23	-0.149	9.6616	0.39958	0.0:0.078:0.0:0.922	.	552;552	O95672-2;O95672	.;ECEL1_HUMAN	R	552	ENSP00000302051:K552R;ENSP00000386333:K552R	ENSP00000302051:K552R	K	-	2	0	ECEL1	233055835	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.434000	0.52841	1.981000	0.57761	0.533000	0.62120	AAG	ECEL1	-	NULL	ENSG00000171551		0.572	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	-	0	90	0	T	NM_004826		233347591	-1	tier1	-	no_errors	ENST00000304546	ensembl	human	known	74_37	missense	17.72	65	14	SNP	1.000	C	C	233347591	T	C	233347591	3	2	144	1	0	0	0	0	1	0	0	0	4905	1609	56	4	708	4	ECEL1	2	233347591	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	8498037	233347591	9851782	74	36477											
NEU2	4759	genome.wustl.edu	37	chr2	233899463	233899463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggagcgtcatcagcttccCcagcccccgctcggggcctg	4	6	14	17	3	2	0	2	0	0	0	4	1	3	1	5	4	3	2	5	4	0	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:233899463C>A	ENST00000233840.3	+	2	839	c.839C>A	c.(838-840)cCc>cAc	p.P280H		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	280					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	ATCAGCTTCCCCAGCCCCCGC	0.672																																																	0													19	23	22					2																	233899463		2201	4295	6496	SO:0001583	missense	0			Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.839C>A	2.37:g.233899463C>A	ENSP00000233840:p.Pro280His		Q3KNW4|Q6NTB4	Missense_Mutation	SNP	superfamily_Sialidases	p.P280H	ENST00000233840.3	37	c.839	CCDS2501.1	2	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643049	0.29246	.	.	ENSG00000115488	ENST00000233840	D	0.90732	-2.72	4.06	3.14	0.36123	Neuraminidase (2);	0.198149	0.36034	N	0.002829	D	0.89255	0.6663	L	0.56769	1.78	0.34328	D	0.68734	B	0.26775	0.159	B	0.37989	0.262	D	0.89115	0.3499	10	0.38643	T	0.18	-31.1754	10.6289	0.45523	0.201:0.799:0.0:0.0	.	280	Q9Y3R4	NEUR2_HUMAN	H	280	ENSP00000233840:P280H	ENSP00000233840:P280H	P	+	2	0	NEU2	233607707	0.415000	0.25416	0.870000	0.34147	0.476000	0.33039	1.969000	0.40510	0.980000	0.38523	0.655000	0.94253	CCC	NEU2	-	superfamily_Sialidases	ENSG00000115488		0.672	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU2	HGNC	protein_coding	OTTHUMT00000257053.2		0	64	0	C	NM_005383		233899463	1			no_errors	ENST00000233840	ensembl	human	known	74_37	missense	8.00	69	6	SNP	0.996	A	A	233899463	C	A	233899463	3	1	144	1	0	0	0	0	1	0	0	0	10381	623	22	3	845	3	NEU2	2	233899463	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	551872	233899463	9299910	75	36478											
UGT1A10	54575	genome.wustl.edu	37	chr2	234545575	234545575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaccgaaaattagtagaatActtaaaggagagttcttttg	15	13	9	4	1	1	3	0	1	1	2	1	5	1	3	1	1	1	2	1	1	8	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr2:234545575A>G	ENST00000344644.5	+	1	476	c.407A>G	c.(406-408)tAc>tGc	p.Y136C	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.Y136C	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	136					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)	TTAGTAGAATACTTAAAGGAG	0.358																																																	0													123	131	128					2																	234545575		2203	4299	6502	SO:0001583	missense	0			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.407A>G	2.37:g.234545575A>G	ENSP00000343838:p.Tyr136Cys		O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.Y136C	ENST00000344644.5	37	c.407	CCDS33403.1	2	.	.	.	.	.	.	.	.	.	.	A	5.974	0.363645	0.11296	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59638	0.25;0.25	3.52	3.52	0.40303	.	.	.	.	.	T	0.75788	0.3897	M	0.80746	2.51	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.65236	-0.6217	9	0.62326	D	0.03	.	12.5346	0.56135	1.0:0.0:0.0:0.0	.	136;136	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	C	136	ENSP00000343838:Y136C;ENSP00000362544:Y136C	ENSP00000343838:Y136C	Y	+	2	0	UGT1A10	234210314	0.000000	0.05858	0.042000	0.18584	0.156000	0.22039	0.108000	0.15396	1.624000	0.50355	0.333000	0.21579	TAC	UGT1A10	-	pfam_UDP_glucos_trans	ENSG00000242515		0.358	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A10	HGNC	protein_coding	OTTHUMT00000130986.1	-	0	54	0	A	NM_019075		234545575	1	tier1	-	no_errors	ENST00000344644	ensembl	human	known	74_37	missense	7.96	104	9	SNP	0.001	G	G	234545575	A	G	234545575	3	3	144	1	0	0	0	0	1	0	0	0	16994	391	14	4	409	4	UGT1A10	2	234545575	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	646112	234545575	8653798	76	36479											
SETD5	55209	genome.wustl.edu	37	chr3	9512170	9512170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accgaaaagacctggatttgGcaaaagtaggataccttgac	15	8	10	8	1	0	2	0	1	0	1	0	5	0	4	3	3	1	2	3	3	6	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:9512170G>A	ENST00000406341.1	+	18	2942	c.2752G>A	c.(2752-2754)Gca>Aca	p.A918T	SETD5_ENST00000402466.1_Missense_Mutation_p.A820T|SETD5_ENST00000302463.6_Missense_Mutation_p.A820T|SETD5_ENST00000402198.1_Missense_Mutation_p.A918T|SETD5_ENST00000407969.1_Missense_Mutation_p.A937T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	918										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)		CCTGGATTTGGCAAAAGTAGG	0.483																																																	0													172	159	163					3																	9512170		1891	4112	6003	SO:0001583	missense	0			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.2752G>A	3.37:g.9512170G>A	ENSP00000383939:p.Ala918Thr		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.A918T	ENST00000406341.1	37	c.2752	CCDS46741.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.07|10.07	1.250064|1.250064	0.22880|0.22880	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.91631|.	-2.56;-2.88;-2.56;-2.56;-2.88|.	5.46|5.46	1.4|1.4	0.22301|0.22301	.|.	0.181621|.	0.48286|.	N|.	0.000195|.	T|T	0.15955|0.15955	0.0384|0.0384	N|N	0.08118|0.08118	0|0	0.21740|0.21740	N|N	0.999563|0.999563	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.26395|0.26395	-1.0104|-1.0104	10|5	0.25751|.	T|.	0.34|.	-3.2769|-3.2769	5.1418|5.1418	0.14963|0.14963	0.4818:0.244:0.2742:0.0|0.4818:0.244:0.2742:0.0	.|.	587;820;918|.	B3KXG4;Q9C0A6-3;Q9C0A6|.	.;.;SETD5_HUMAN|.	T|D	918;820;918;937;820|585;248	ENSP00000385852:A918T;ENSP00000384429:A820T;ENSP00000383939:A918T;ENSP00000384114:A937T;ENSP00000302028:A820T|.	ENSP00000302028:A820T|.	A|G	+|+	1|2	0|0	SETD5|SETD5	9487170|9487170	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	0.685000|0.685000	0.25378|0.25378	0.376000|0.376000	0.24707|0.24707	-0.482000|-0.482000	0.04802|0.04802	GCA|GGC	SETD5	-	NULL	ENSG00000168137		0.483	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1		0	49	0	G	XM_371614		9512170	1			no_errors	ENST00000402198	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.997	A	A	9512170	G	A	9512170	3	1	144	1	0	0	0	0	1	0	0	0	14179	1203	42	3	2818	3	SETD5	3	9512170	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09		9512170	188510260	77	36480											
OXNAD1	92106	genome.wustl.edu	37	chr3	16327858	16327858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggttttagattgtgtcaGcagctaaggtgtgtggagct	7	16	14	4	0	1	1	1	0	0	1	1	2	1	2	0	3	3	4	0	3	2	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:16327858G>T	ENST00000285083.5	+	5	658	c.193G>T	c.(193-195)Gca>Tca	p.A65S	OXNAD1_ENST00000435829.2_Missense_Mutation_p.A83S|OXNAD1_ENST00000544043.1_Missense_Mutation_p.A83S|OXNAD1_ENST00000605932.1_Missense_Mutation_p.A65S|OXNAD1_ENST00000606098.1_Missense_Mutation_p.A65S	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	65	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						GATTGTGTCAGCAGCTAAGGT	0.478																																																	0													181	155	164					3																	16327858		2203	4300	6503	SO:0001583	missense	0			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.193G>T	3.37:g.16327858G>T	ENSP00000285083:p.Ala65Ser		Q2HYC7|Q59FA4	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase	p.A83S	ENST00000285083.5	37	c.247	CCDS2630.1	3	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650328	0.29336	.	.	ENSG00000154814	ENST00000285083;ENST00000435829;ENST00000544043	T;T;T	0.21932	2.28;1.98;2.26	5.26	-5.07	0.02938	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.397887	0.30109	N	0.010392	T	0.05868	0.0153	N	0.05230	-0.09	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.38585	-0.9654	10	0.07990	T	0.79	-11.3596	6.8275	0.23891	0.2433:0.5565:0.1196:0.0805	.	83;65	F5H620;Q96HP4	.;OXND1_HUMAN	S	65;65;83	ENSP00000285083:A65S;ENSP00000389872:A65S;ENSP00000437967:A83S	ENSP00000285083:A65S	A	+	1	0	OXNAD1	16302862	0.000000	0.05858	0.000000	0.03702	0.823000	0.46562	0.094000	0.15107	-0.473000	0.06871	0.655000	0.94253	GCA	OXNAD1	-	superfamily_Riboflavin_synthase-like_b-brl	ENSG00000154814		0.478	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OXNAD1	HGNC	protein_coding	OTTHUMT00000252109.1		0	34	0	G	NM_138381		16327858	1			no_errors	ENST00000544043	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.001	T	T	16327858	G	T	16327858	3	4	144	1	0	0	0	0	1	0	0	0	11372	971	34	3	203	3	OXNAD1	3	16327858	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6815688	16327858	181694572	78	36481											
ZCWPW2	152098	genome.wustl.edu	37	chr3	28566121	28566121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaattaaaagctggagaatGtattgaggatataactaata	20	11	8	2	0	0	2	0	1	0	1	0	4	0	3	0	2	2	2	0	2	10	7	rs527953274		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:28566121G>A	ENST00000383768.2	+	10	1201	c.1013G>A	c.(1012-1014)tGt>tAt	p.C338Y	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.C338Y			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	338							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCTGGAGAATGTATTGAGGAT	0.303													G|||	1	0.000199681	0	0.0014	5008	,	,		13528	0		0	False		,,,				2504	0																0													61	70	67					3																	28566121		2199	4298	6497	SO:0001583	missense	0			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.1013G>A	3.37:g.28566121G>A	ENSP00000373278:p.Cys338Tyr			Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW	p.C338Y	ENST00000383768.2	37	c.1013	CCDS33723.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.96|16.96	3.265730|3.265730	0.59540|0.59540	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000383768;ENST00000421010|ENST00000419130	T;T|.	0.51071|.	0.72;0.72|.	6.03|6.03	3.29|3.29	0.37713|0.37713	.|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|T	0.40670|0.40670	0.1126|0.1126	L|L	0.34521|0.34521	1.04|1.04	0.32374|0.32374	N|N	0.55549|0.55549	B|.	0.17465|.	0.022|.	B|.	0.14578|.	0.011|.	T|T	0.47018|0.47018	-0.9149|-0.9149	10|5	0.87932|.	D|.	0|.	-18.8087|-18.8087	9.7617|9.7617	0.40537|0.40537	0.2195:0.0:0.7805:0.0|0.2195:0.0:0.7805:0.0	.|.	338|.	Q504Y3|.	ZCPW2_HUMAN|.	Y|I	338|222	ENSP00000373278:C338Y;ENSP00000412386:C338Y|.	ENSP00000373278:C338Y|.	C|M	+|+	2|3	0|0	ZCWPW2|ZCWPW2	28541125|28541125	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	2.944000|2.944000	0.49034|0.49034	0.436000|0.436000	0.26393|0.26393	-0.123000|-0.123000	0.14984|0.14984	TGT|ATG	ZCWPW2	-	NULL	ENSG00000206559		0.303	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCWPW2	HGNC	protein_coding	OTTHUMT00000341318.1		0	69	0	G	XM_087384		28566121	1			no_errors	ENST00000383768	ensembl	human	known	74_37	missense	7.53	86	7	SNP	1.000	A	A	28566121	G	A	28566121	3	1	144	1	0	0	0	0	1	0	0	0	17646	1377	48	3	1043	3	ZCWPW2	3	28566121	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	12238263	28566121	169456309	79	36482											
CCR4	1233	genome.wustl.edu	37	chr3	32995849	32995849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctgggggagaaatttcGcaagtacatcctacagctct	10	13	9	9	1	2	1	0	0	2	1	4	2	3	1	1	2	3	3	1	2	4	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:32995849G>A	ENST00000330953.5	+	2	1103	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	312					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GAGAAATTTCGCAAGTACATC	0.478																																																	0													64	68	67					3																	32995849		2203	4300	6503	SO:0001583	missense	0			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.935G>A	3.37:g.32995849G>A	ENSP00000332659:p.Arg312His		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.R312H	ENST00000330953.5	37	c.935	CCDS2656.1	3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068896	0.76301	.	.	ENSG00000183813	ENST00000330953	T	0.58358	0.34	5.73	5.73	0.89815	.	0.107611	0.39210	N	0.001435	T	0.71986	0.3405	M	0.84948	2.725	0.48288	D	0.999625	D	0.89917	1.0	D	0.64506	0.926	T	0.76187	-0.3051	10	0.87932	D	0	.	11.2774	0.49174	0.1148:0.0:0.8852:0.0	.	312	P51679	CCR4_HUMAN	H	312	ENSP00000332659:R312H	ENSP00000332659:R312H	R	+	2	0	CCR4	32970853	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.362000	0.59467	2.706000	0.92434	0.563000	0.77884	CGC	CCR4	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	ENSG00000183813		0.478	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	-	0	45	0	G			32995849	1	tier1	-	no_errors	ENST00000330953	ensembl	human	known	74_37	missense	34.78	30	16	SNP	1.000	A	A	32995849	G	A	32995849	3	1	144	1	0	0	0	0	1	0	0	0	2950	1087	38	1	937	1	CCR4	3	32995849	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	4429728	32995849	165026581	80	36483											
GORASP1	64689	genome.wustl.edu	37	chr3	39141811	39141811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacctccatgtagtcactCtgcctggaacctgtctccag	8	11	7	15	0	3	0	1	0	2	0	5	1	4	1	5	1	3	1	5	1	3	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:39141811C>A	ENST00000319283.3	-	6	1571	c.750G>T	c.(748-750)caG>caT	p.Q250H	GORASP1_ENST00000422110.2_Missense_Mutation_p.Q95H|GORASP1_ENST00000476334.1_5'Flank|GORASP1_ENST00000479927.1_Missense_Mutation_p.Q155H	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	250	Pro-rich.				Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGTAGTCACTCTGCCTGGAAC	0.592																																																	0													53	57	55					3																	39141811		2203	4300	6503	SO:0001583	missense	0			AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"golgi phosphoprotein 5"	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.750G>T	3.37:g.39141811C>A	ENSP00000313869:p.Gln250His		B3KWC8|Q3SYG7|Q8N272|Q96H42	Missense_Mutation	SNP	pfam_GRASP55/65_PDZ,superfamily_PDZ	p.Q250H	ENST00000319283.3	37	c.750	CCDS2681.1	3	.	.	.	.	.	.	.	.	.	.	C	5.566	0.289348	0.10513	.	.	ENSG00000114745	ENST00000319283;ENST00000422110;ENST00000479927	T;T;T	0.48522	0.84;0.82;0.81	4.56	3.67	0.42095	.	0.833030	0.10800	N	0.632816	T	0.53270	0.1786	M	0.67953	2.075	0.33906	D	0.639101	B;P;B	0.52061	0.001;0.95;0.003	B;P;B	0.50708	0.002;0.648;0.002	T	0.62029	-0.6940	10	0.44086	T	0.13	-14.0726	7.5951	0.28044	0.0:0.8871:0.0:0.1129	.	155;95;250	B4E1H8;B3KPY8;Q9BQQ3	.;.;GORS1_HUMAN	H	250;95;155	ENSP00000313869:Q250H;ENSP00000395709:Q95H;ENSP00000419123:Q155H	ENSP00000313869:Q250H	Q	-	3	2	GORASP1	39116815	0.209000	0.23505	1.000000	0.80357	0.215000	0.24574	0.422000	0.21296	2.469000	0.83416	0.591000	0.81541	CAG	GORASP1	-	pfam_GRASP55/65_PDZ	ENSG00000114745		0.592	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GORASP1	HGNC	protein_coding	OTTHUMT00000254060.1	-	0	60	0	C			39141811	-1	tier1	-	no_errors	ENST00000319283	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.996	A	A	39141811	C	A	39141811	3	1	144	1	0	0	0	0	1	0	0	0	6601	912	32	3	588	3	GORASP1	3	39141811	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	6145962	39141811	158880619	81	36484											
XIRP1	165904	genome.wustl.edu	37	chr3	39226171	39226171	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gcctggcgctactgctgactGtgacactgatcttgtgggca	6	11	13	11	1	1	3	0	3	1	0	1	3	1	3	1	2	2	3	1	2	1	2	rs367987838	byFrequency	TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:39226171G>T	ENST00000340369.3	-	2	4994	c.4766C>A	c.(4765-4767)aCa>aAa	p.T1589K	XIRP1_ENST00000421646.1_Missense_Mutation_p.T272K|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1589					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)		ACTGCTGACTGTGACACTGAT	0.587																																																	0													188	174	178					3																	39226171		2203	4300	6503	SO:0001583	missense	0			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.4766C>A	3.37:g.39226171G>T	ENSP00000343140:p.Thr1589Lys		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.T1589K	ENST00000340369.3	37	c.4766	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553521	0.27739	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.18174	3.98;2.23	4.37	0.452	0.16634	.	0.562398	0.17780	U	0.162266	T	0.09949	0.0244	L	0.47716	1.5	0.09310	N	1	B	0.33694	0.421	B	0.24541	0.054	T	0.36480	-0.9746	10	0.07813	T	0.8	.	7.6425	0.28303	0.4888:0.0:0.5112:0.0	.	1589	Q702N8	XIRP1_HUMAN	K	1589;272	ENSP00000343140:T1589K;ENSP00000391645:T272K	ENSP00000343140:T1589K	T	-	2	0	XIRP1	39201175	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	0.117000	0.15583	-0.039000	0.13602	0.655000	0.94253	ACA	XIRP1	-	NULL	ENSG00000168334		0.587	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	-	0	54	0	G	XM_093522		39226171	-1	tier1	-	no_errors	ENST00000340369	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	T	T	39226171	G	T	39226171	3	4	144	1	0	0	0	0	1	0	0	0	17478	1377	48	3	769	3	XIRP1	3	39226171	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	84360	39226171	158796259	82	36485											
MYL3	4634	genome.wustl.edu	37	chr3	46904847	46904847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggggctgccttggcatCatccttcttgggctctggct	2	14	13	12	0	3	0	1	0	2	0	4	0	4	0	2	5	1	4	2	5	0	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:46904847C>A	ENST00000395869.1	-	1	85	c.34G>T	c.(34-36)Gat>Tat	p.D12Y	MYL3_ENST00000292327.4_Missense_Mutation_p.D12Y			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	12					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GCCTTGGCATCATCCTTCTTG	0.592																																					Melanoma(166;130 1949 2249 18977 46142)												0													70	72	71					3																	46904847		2203	4300	6503	SO:0001583	missense	0				CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"Myosins / Light chain", "EF-hand domain containing"	7584	protein-coding gene	gene with protein product		160790	"myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.34G>T	3.37:g.46904847C>A	ENSP00000379210:p.Asp12Tyr		B2R534|Q9NRS8	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.D12Y	ENST00000395869.1	37	c.34	CCDS2746.1	3	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992957	0.35131	.	.	ENSG00000160808	ENST00000395869;ENST00000292327;ENST00000431168	D;D	0.84589	-1.87;-1.87	4.78	3.9	0.45041	.	2.132630	0.02133	N	0.056562	T	0.80325	0.4602	L	0.34521	1.04	0.09310	N	1	P	0.34546	0.456	B	0.27380	0.079	T	0.68780	-0.5318	10	0.59425	D	0.04	-3.8835	11.255	0.49048	0.0:0.91:0.0:0.09	.	12	P08590	MYL3_HUMAN	Y	12	ENSP00000379210:D12Y;ENSP00000292327:D12Y	ENSP00000292327:D12Y	D	-	1	0	MYL3	46879851	0.994000	0.37717	0.071000	0.20095	0.949000	0.60115	4.226000	0.58606	1.364000	0.46038	0.561000	0.74099	GAT	MYL3	-	NULL	ENSG00000160808		0.592	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL3	HGNC	protein_coding	OTTHUMT00000259165.2	-	0	103	0	C	NM_000258		46904847	-1	tier1	-	no_errors	ENST00000292327	ensembl	human	known	74_37	missense	5.15	92	5	SNP	0.084	A	A	46904847	C	A	46904847	3	1	144	1	0	0	0	0	1	0	0	0	10086	826	29	3	577	3	MYL3	3	46904847	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	7678676	46904847	151117583	83	36486											
IMPDH2	54870	genome.wustl.edu	37	chr3	49065934	49065934	+	IGR	SNP	G	G	T	0	0	1	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	aaaccagtggggtcttaagaGtgattttcttggtcagagca	11	12	12	6	0	3	3	1	1	2	2	3	3	3	3	1	3	2	1	1	3	2	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:49065934G>T	ENST00000395443.2	-	0	3549				IMPDH2_ENST00000326739.4_Missense_Mutation_p.T60N|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)		GGTCTTAAGAGTGATTTTCTT	0.552																																																	0													73	72	72					3																	49065934		2203	4300	6503	SO:0001628	intergenic_variant	0				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.49065934G>T			Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_CBS_dom,pirsf_IMP_DH,tigrfam_IMP_DH	p.T60N	ENST00000395443.2	37	c.179	CCDS2787.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246870	0.80024	.	.	ENSG00000178035	ENST00000537036;ENST00000326739;ENST00000442157	T;T	0.78481	-1.18;-1.18	5.82	5.82	0.92795	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	L	0.43152	1.355	0.80722	D	1	B	0.11235	0.004	B	0.22386	0.039	T	0.66200	-0.5983	9	.	.	.	-20.7334	20.1054	0.97890	0.0:0.0:1.0:0.0	.	60	P12268	IMDH2_HUMAN	N	60	ENSP00000321584:T60N;ENSP00000403502:T60N	.	T	-	2	0	IMPDH2	49040938	1.000000	0.71417	0.990000	0.47175	0.974000	0.67602	9.712000	0.98738	2.757000	0.94681	0.655000	0.94253	ACT	IMPDH2	-	pfam_IMP_DH_GMPRt,pfam_2Npropane_dOase,pirsf_IMP_DH,tigrfam_IMP_DH	ENSG00000178035		0.552	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPDH2	HGNC	protein_coding	OTTHUMT00000345669.1	-	0	69	0	G	NM_017730		49065934	-1	tier1	-	no_errors	ENST00000326739	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	49065934	G	T	49065934	1	4	144	0	1	0	0	0	0	0	0	0	7754	1029	36	3		3	IMPDH2	3	49065934	IGR	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2161087	49065934	148956496	84	36487											
TUSC2	11334	genome.wustl.edu	37	chr3	50363557	50363557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccacctcccagggtcacaCctcatagaggatcacaggga	11	6	10	14	0	3	1	3	0	0	1	4	3	4	3	4	3	1	0	4	3	1	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:50363557C>A	ENST00000232496.4	-	3	471	c.328G>T	c.(328-330)Gtg>Ttg	p.V110L	TUSC2_ENST00000462137.1_Intron	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2	110					cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567)	mitochondrion (GO:0005739)				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGGGTCACACCTCATAGAGG	0.602																																																	0													45	36	39					3																	50363557		2202	4295	6497	SO:0001583	missense	0			AF055479	CCDS2819.1	3p21.3	2010-09-21	2004-01-20	2004-01-21	ENSG00000114383	ENSG00000114383			17034	protein-coding gene	gene with protein product		607052	"PDGFA associated protein 2"	PDAP2		8780057, 11593436	Standard	NM_007275		Approved	FUS1, PAP, C3orf11	uc003czy.1	O75896	OTTHUMG00000156877	ENST00000232496.4:c.328G>T	3.37:g.50363557C>A	ENSP00000232496:p.Val110Leu		B2R4Y9	Missense_Mutation	SNP	NULL	p.V110L	ENST00000232496.4	37	c.328	CCDS2819.1	3	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789680	0.70337	.	.	ENSG00000114383	ENST00000232496	.	.	.	5.6	1.27	0.21489	.	0.351696	0.32218	N	0.006418	T	0.56077	0.1961	M	0.63428	1.95	0.42723	D	0.993681	B	0.26602	0.154	B	0.21360	0.034	T	0.58025	-0.7709	9	0.66056	D	0.02	.	11.9831	0.53131	0.0:0.7433:0.0:0.2567	.	110	O75896	TUSC2_HUMAN	L	110	.	ENSP00000232496:V110L	V	-	1	0	TUSC2	50338561	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	1.315000	0.33608	0.324000	0.23333	-0.137000	0.14449	GTG	TUSC2	-	NULL	ENSG00000114383		0.602	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUSC2	HGNC	protein_coding	OTTHUMT00000346399.1	-	0	97	0	C	NM_007275		50363557	-1	tier1	-	no_errors	ENST00000232496	ensembl	human	known	74_37	missense	17.05	73	15	SNP	1.000	A	A	50363557	C	A	50363557	3	1	144	1	0	0	0	0	1	0	0	0	16826	507	18	3	8	3	TUSC2	3	50363557	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	1297623	50363557	147658873	85	36488											
DUSP7	1849	genome.wustl.edu	37	chr3	52088231	52088231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgactcggtggcactgctgGgcagctctcggtccgactcg	4	9	14	14	4	1	1	0	1	1	0	5	2	2	1	1	4	2	4	1	4	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:52088231G>T	ENST00000495880.1	-	2	860	c.677C>A	c.(676-678)cCc>cAc	p.P226H	DUSP7_ENST00000296483.6_Missense_Mutation_p.P175H			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	226	Ser-rich.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCACTGCTGGGCAGCTCTCG	0.677																																																	0													109	100	103					3																	52088231		2203	4300	6503	SO:0001583	missense	0			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.677C>A	3.37:g.52088231G>T	ENSP00000417183:p.Pro226His		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.P175H	ENST00000495880.1	37	c.524	CCDS33766.2	3	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630095	0.67015	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	T;T;T	0.10477	4.2;4.23;2.87	5.53	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	L	0.53249	1.67	0.80722	D	1	B;B	0.24092	0.052;0.097	B;B	0.33254	0.093;0.16	T	0.02333	-1.1175	10	0.56958	D	0.05	.	15.1308	0.72520	0.0:0.0:0.8572:0.1428	.	175;226	Q16829-2;Q16829	.;DUS7_HUMAN	H	226;175;159	ENSP00000417183:P226H;ENSP00000296483:P175H;ENSP00000418566:P159H	ENSP00000296483:P175H	P	-	2	0	DUSP7	52063271	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.391000	0.97249	1.279000	0.44446	0.549000	0.68633	CCC	DUSP7	-	pirsf_MKP	ENSG00000164086		0.677	DUSP7-001	NOVEL	basic|CCDS	protein_coding	DUSP7	HGNC	protein_coding	OTTHUMT00000349697.1		0	55	0	G	NM_001947		52088231	-1			no_errors	ENST00000296483	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	52088231	G	T	52088231	3	4	144	1	0	0	0	0	1	0	0	0	4844	1232	43	3	590	3	DUSP7	3	52088231	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1724674	52088231	145934199	86	36489											
DNAH1	25981	genome.wustl.edu	37	chr3	52406928	52406928	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcggaagggtgtgtttGgaccacctctggggcgcaac	7	8	16	10	2	2	0	1	0	1	0	2	2	2	2	2	6	1	2	2	6	2	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:52406928G>T	ENST00000420323.2	+	44	7105	c.6844G>T	c.(6844-6846)Gga>Tga	p.G2282*		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2282	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGTGTGTTTGGACCACCTCT	0.622																																																	0													80	84	83					3																	52406928		1997	4153	6150	SO:0001587	stop_gained	0			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.6844G>T	3.37:g.52406928G>T	ENSP00000401514:p.Gly2282*		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.G2282*	ENST00000420323.2	37	c.6844	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	50	16.348637	0.99861	.	.	ENSG00000114841	ENST00000420323	.	.	.	4.98	4.98	0.66077	.	0.000000	0.49916	D	0.000135	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4445	0.90678	0.0:0.0:1.0:0.0	.	.	.	.	X	2282	.	ENSP00000401514:G2282X	G	+	1	0	DNAH1	52381968	1.000000	0.71417	0.964000	0.40570	0.963000	0.63663	9.169000	0.94788	2.604000	0.88044	0.655000	0.94253	GGA	DNAH1	-	superfamily_P-loop_NTPase	ENSG00000114841		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0	62	0	G	NM_015512		52406928	1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	52406928	G	T	52406928	4	4	144	1	0	0	0	0	0	1	0	0	4611	1349	47	3	7014	3	DNAH1	3	52406928	Nonsense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	318697	52406928	145615502	87	36490											
ERC2	26059	genome.wustl.edu	37	chr3	56026194	56026194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgccacactcgtcgcGgtagtaagacgcctctttat	7	11	10	13	4	1	1	0	0	1	1	3	1	1	1	3	2	1	2	3	2	3	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	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	0			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	3.37:g.56026194G>T	ENSP00000288221:p.Arg716Ser		Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.R716S	ENST00000288221.6	37	c.2146	CCDS46851.1	3	.	.	.	.	.	.	.	.	.	.	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	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000187672		0.473	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	-	0	40	0	G	NM_015576		56026194	-1	tier1	-	no_errors	ENST00000288221	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	56026194	G	T	56026194	3	4	144	1	0	0	0	0	1	0	0	0	5227	1116	39	2	745	2	ERC2	3	56026194	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3619266	56026194	141996236	88	36491											
MAGI1	9223	genome.wustl.edu	37	chr3	65425633	65425633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctcaagctgcttCttccgtttggcttctagaac	5	15	9	12	1	3	1	1	0	2	1	4	1	4	1	1	1	6	7	1	1	3	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:65425633C>A	ENST00000497477.2	-	9	1190	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N	MAGI1_ENST00000330909.8_Missense_Mutation_p.K397N|MAGI1_ENST00000483466.1_Missense_Mutation_p.K397N|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.K397N			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	397					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.K397K(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CAAGCTGCTTCTTCCGTTTGG	0.517											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	lung(2)											145	119	128					3																	65425633		2203	4300	6503	SO:0001583	missense	0			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.1191G>T	3.37:g.65425633C>A	ENSP00000424369:p.Lys397Asn	1084	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.K397N	ENST00000497477.2	37	c.1191		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.232251|4.232251	0.79688|0.79688	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257;ENST00000479287|ENST00000460329	T;T;T;T;T;T;T|.	0.79141|.	-0.04;-1.24;-1.24;-1.24;-1.24;-1.24;2.25|.	5.86|5.86	4.99|4.99	0.66335|0.66335	.|.	0.304838|.	0.35067|.	N|.	0.003472|.	T|T	0.69486|0.69486	0.3116|0.3116	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;P;B|.	0.57899|.	0.981;0.981;0.835;0.929;0.317|.	P;P;P;P;B|.	0.53490|.	0.681;0.727;0.549;0.681;0.187|.	T|T	0.68277|0.68277	-0.5451|-0.5451	10|5	0.45353|.	T|.	0.12|.	-28.091|-28.091	14.7788|14.7788	0.69749|0.69749	0.0:0.9312:0.0:0.0688|0.0:0.9312:0.0:0.0688	.|.	397;397;397;397;397|.	Q96QZ7-6;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;.;.;.;.|.	N|I	397;397;293;272;397;397;183;147|278	ENSP00000385450:K397N;ENSP00000331157:K397N;ENSP00000418177:K272N;ENSP00000420323:K397N;ENSP00000424369:K397N;ENSP00000420796:K183N;ENSP00000418044:K147N|.	ENSP00000331157:K397N|.	K|R	-|-	3|2	2|0	MAGI1|MAGI1	65400673|65400673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.445000|1.445000	0.35079|0.35079	1.490000|1.490000	0.48466|0.48466	0.650000|0.650000	0.86243|0.86243	AAG|AGA	MAGI1	-	NULL	ENSG00000151276		0.517	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2		0	27	0	C	NM_004742		65425633	-1			no_errors	ENST00000402939	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	A	A	65425633	C	A	65425633	3	1	144	1	0	0	0	0	1	0	0	0	9228	912	32	3	3491	3	MAGI1	3	65425633	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	9399439	65425633	132596797	89	36492											
MYH15	22989	genome.wustl.edu	37	chr3	108127151	108127151	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttcttccagtgtcacctgGacttctgtcttctcttcttc	3	19	6	13	0	6	0	1	0	5	0	9	1	7	1	2	1	0	1	2	1	0	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:108127151G>T	ENST00000273353.3	-	33	4712	c.4656C>A	c.(4654-4656)gtC>gtA	p.V1552V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1552						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						GTGTCACCTGGACTTCTGTCT	0.403																																																	0													234	218	223					3																	108127151		1890	4127	6017	SO:0001819	synonymous_variant	0			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.4656C>A	3.37:g.108127151G>T				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.V1552	ENST00000273353.3	37	c.4656	CCDS43127.1	3																																																																																			MYH15	-	pfam_Myosin_tail	ENSG00000144821		0.403	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	-	0	31	0	G	XM_036988		108127151	-1	tier1	-	no_errors	ENST00000273353	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.625	T	T	108127151	G	T	108127151	2	4	144	1	0	0	0	0	0	0	0	1	10072	1161	41	3		3	MYH15	3	108127151	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	42701518	108127151	89895279	90	36493											
PHLDB2	90102	genome.wustl.edu	37	chr3	111632384	111632384	+	Silent	SNP	C	C	T	0	0	0	1	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	gactccctccctgatgcagaCttggcaagctgtgggagtct	7	10	12	12	0	1	2	0	1	1	1	3	4	3	3	2	2	2	3	2	2	1	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:111632384C>T	ENST00000431670.2	+	3	1965	c.1554C>T	c.(1552-1554)gaC>gaT	p.D518D	PHLDB2_ENST00000495180.1_Silent_p.D104D|PHLDB2_ENST00000477695.1_Silent_p.D518D|PHLDB2_ENST00000393923.3_Silent_p.D545D|PHLDB2_ENST00000412622.1_Silent_p.D518D|PHLDB2_ENST00000393925.3_Silent_p.D518D|PHLDB2_ENST00000481953.1_Silent_p.D518D	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	518						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGATGCAGACTTGGCAAGCT	0.557																																																	0													124	125	125					3																	111632384		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1554C>T	3.37:g.111632384C>T			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D518	ENST00000431670.2	37	c.1554	CCDS46886.1	3																																																																																			PHLDB2	-	NULL	ENSG00000144824		0.557	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	-	0	26	0	C	NM_145753		111632384	1	tier1	-	no_errors	ENST00000393925	ensembl	human	known	74_37	silent	17.14	29	6	SNP	0.046	T	T	111632384	C	T	111632384	2	4	144	1	0	0	0	0	0	0	0	1	11891	564	20	3		3	PHLDB2	3	111632384	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	3505233	111632384	86390046	91	36494											
BOC	91653	genome.wustl.edu	37	chr3	112997020	112997020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaccctcaccagacttGaccccgggagcttgtatgaa	9	8	10	14	1	1	4	1	3	0	1	1	5	1	5	5	1	1	2	5	1	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:112997020G>T	ENST00000495514.1	+	10	2322	c.1618G>T	c.(1618-1620)Gac>Tac	p.D540Y	BOC_ENST00000273395.4_Missense_Mutation_p.D541Y|BOC_ENST00000355385.3_Missense_Mutation_p.D540Y|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	540	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CACCAGACTTGACCCCGGGAG	0.542																																																	0													146	135	139					3																	112997020		2203	4300	6503	SO:0001583	missense	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1618G>T	3.37:g.112997020G>T	ENSP00000418663:p.Asp540Tyr		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D541Y	ENST00000495514.1	37	c.1621	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118375	0.77323	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57273	0.41;0.41;0.41	5.8	5.8	0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.107759	0.64402	D	0.000006	T	0.64416	0.2596	L	0.50333	1.59	0.58432	D	0.99999	P;P	0.42248	0.732;0.774	P;P	0.52159	0.459;0.691	T	0.64223	-0.6458	10	0.72032	D	0.01	.	20.0466	0.97609	0.0:0.0:1.0:0.0	.	541;540	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	Y	540;541;540	ENSP00000418663:D540Y;ENSP00000273395:D541Y;ENSP00000347546:D540Y	ENSP00000273395:D541Y	D	+	1	0	BOC	114479710	1.000000	0.71417	0.967000	0.41034	0.760000	0.43138	6.938000	0.75904	2.729000	0.93468	0.563000	0.77884	GAC	BOC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144857		0.542	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3		0	61	0	G	NM_033254		112997020	1			no_errors	ENST00000273395	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	112997020	G	T	112997020	3	4	144	1	0	0	0	0	1	0	0	0	1483	1290	45	3	1648	3	BOC	3	112997020	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1364636	112997020	85025410	92	36495											
CCDC37	348807	genome.wustl.edu	37	chr3	126139071	126139071	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggtggcgactccagaGggtgagtgggctcgggtggt	5	7	20	9	3	0	2	0	1	0	1	2	3	1	2	2	6	1	1	2	6	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:126139071G>A	ENST00000352312.1	+	11	1180	c.1081G>A	c.(1081-1083)Ggg>Agg	p.G361R	CCDC37_ENST00000505024.1_Splice_Site_p.G362R|CCDC37_ENST00000393425.1_Splice_Site_p.G362R	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	361										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)		CGACTCCAGAGGGTGAGTGGG	0.652																																																	0													21	25	24					3																	126139071		2201	4295	6496	SO:0001630	splice_region_variant	0			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.1082+1G>A	3.37:g.126139071G>A			D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C	p.G362R	ENST00000352312.1	37	c.1084	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	G	8.771	0.925893	0.18056	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.30182	1.55;1.54;1.54	3.37	-4.64	0.03349	.	2.853410	0.00721	N	0.000882	T	0.14270	0.0345	N	0.11560	0.145	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.11329	0.006;0.003	T	0.12967	-1.0527	10	0.15499	T	0.54	.	5.1174	0.14843	0.5031:0.3042:0.1927:0.0	.	362;361	Q494V2-2;Q494V2	.;CCD37_HUMAN	R	361;362;362	ENSP00000344749:G361R;ENSP00000377076:G362R;ENSP00000423046:G362R	ENSP00000344749:G361R	G	+	1	0	CCDC37	127621761	0.003000	0.15002	0.001000	0.08648	0.520000	0.34377	-0.682000	0.05185	-1.080000	0.03109	0.491000	0.48974	GGG	CCDC37	-	NULL	ENSG00000163885		0.652	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	-	0	62	0	G	NM_182628	Missense_Mutation	126139071	1	tier1	-	no_errors	ENST00000393425	ensembl	human	known	74_37	missense	25.27	68	23	SNP	0.001	A	A	126139071	G	A	126139071	5	1	144	1	0	0	0	0	0	0	1	0	2816	1014	35	3	1119	3	CCDC37	3	126139071	Splice_Site	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	13142051	126139071	71883359	93	36496											
UROC1	131669	genome.wustl.edu	37	chr3	126208173	126208173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccctaaaggggctgtCggtgccgctcacgtcatggt	5	10	14	12	3	3	0	2	0	1	0	5	0	3	0	2	5	1	2	2	5	2	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:126208173C>A	ENST00000290868.2	-	17	1707	c.1654G>T	c.(1654-1656)Gac>Tac	p.D552Y	UROC1_ENST00000383579.3_Missense_Mutation_p.D612Y	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	552					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)	p.D552N(1)		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)		AAGGGGCTGTCGGTGCCGCTC	0.537																																																	1	Substitution - Missense(1)	large_intestine(1)											147	136	140					3																	126208173		2203	4300	6503	SO:0001583	missense	0			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.1654G>T	3.37:g.126208173C>A	ENSP00000290868:p.Asp552Tyr		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase	p.D552Y	ENST00000290868.2	37	c.1654	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133796	0.77662	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.47528	0.84;0.84	4.59	4.59	0.56863	Urocanase domain (2);Urocanase conserved site (1);	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85043	0.0924	10	0.87932	D	0	-10.501	15.247	0.73513	0.0:1.0:0.0:0.0	.	612;552	E9PE13;Q96N76	.;HUTU_HUMAN	Y	552;612	ENSP00000290868:D552Y;ENSP00000373073:D612Y	ENSP00000290868:D552Y	D	-	1	0	UROC1	127690863	1.000000	0.71417	0.989000	0.46669	0.773000	0.43773	6.781000	0.75068	2.247000	0.74100	0.491000	0.48974	GAC	UROC1	-	pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase	ENSG00000159650		0.537	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2		0	57	0	C	NM_144639		126208173	-1			no_errors	ENST00000290868	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.999	A	A	126208173	C	A	126208173	3	1	144	1	0	0	0	0	1	0	0	0	17077	884	31	2	392	2	UROC1	3	126208173	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	69102	126208173	71814257	94	36497											
DNAJC13	23317	genome.wustl.edu	37	chr3	132221270	132221270	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaattatgactacacactAgaagagagtggcattcagaa	16	11	8	6	0	1	4	1	1	0	3	1	5	1	4	0	1	1	1	0	1	6	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:132221270A>T	ENST00000260818.6	+	40	4922	c.4674A>T	c.(4672-4674)ctA>ctT	p.L1558L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1558					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						ACTACACACTAGAAGAGAGTG	0.368																																																	0													123	118	119					3																	132221270		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4674A>T	3.37:g.132221270A>T			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.L1558	ENST00000260818.6	37	c.4674	CCDS33857.1	3																																																																																			DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.368	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	-	0	52	0	A	NM_015268		132221270	1	tier1	-	no_errors	ENST00000260818	ensembl	human	known	74_37	silent	6.40	117	8	SNP	1.000	T	T	132221270	A	T	132221270	2	4	144	1	0	0	0	0	0	0	0	1	4646	407	15	5		5	DNAJC13	3	132221270	Silent	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	6013097	132221270	65801160	95	36498											
PIK3CB	5291	genome.wustl.edu	37	chr3	138452210	138452210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgggtactcacttttacaGtttcctctgtgttaagttta	8	18	8	7	0	2	0	1	0	1	0	3	0	3	0	1	1	2	4	1	1	4	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:138452210G>A	ENST00000477593.1	-	7	1116	c.1043C>T	c.(1042-1044)aCt>aTt	p.T348I	PIK3CB_ENST00000289153.2_Missense_Mutation_p.T348I			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	348	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)	CACTTTTACAGTTTCCTCTGT	0.318																																																	0													120	122	121					3																	138452210		2201	4298	6499	SO:0001583	missense	0				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.1043C>T	3.37:g.138452210G>A	ENSP00000418143:p.Thr348Ile		D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.T348I	ENST00000477593.1	37	c.1043	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008930	0.35415	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.66099	-0.19;-0.19	5.46	4.58	0.56647	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.312845	0.32836	N	0.005582	T	0.40398	0.1115	N	0.04203	-0.255	0.80722	D	1	B	0.27013	0.166	B	0.32583	0.148	T	0.29761	-1.0001	10	0.32370	T	0.25	-7.1183	10.3895	0.44160	0.0:0.2656:0.5919:0.1425	.	348	P42338	PK3CB_HUMAN	I	348	ENSP00000418143:T348I;ENSP00000289153:T348I	ENSP00000289153:T348I	T	-	2	0	PIK3CB	139934900	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.118000	0.41949	1.277000	0.44412	0.591000	0.81541	ACT	PIK3CB	-	superfamily_C2_dom,smart_PI3K_C2_dom	ENSG00000051382		0.318	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	-	0	102	0	G			138452210	-1	tier1	-	no_errors	ENST00000289153	ensembl	human	known	74_37	missense	20.74	106	28	SNP	1.000	A	A	138452210	G	A	138452210	3	1	144	1	0	0	0	0	1	0	0	0	11953	1029	36	3	2235	3	PIK3CB	3	138452210	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6230940	138452210	59570220	96	36499											
PRR23B	389151	genome.wustl.edu	37	chr3	138739030	138739030	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggaactcggggtccgcGtcctcctcgtaggcctcttc	3	10	12	16	5	1	0	0	0	1	0	8	1	5	1	5	4	1	1	5	4	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:138739030G>A	ENST00000329447.5	-	1	738	c.474C>T	c.(472-474)gaC>gaT	p.D158D	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	158										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGGGTCCGCGTCCTCCTCGT	0.642																																																	0													36	43	41					3																	138739030		2203	4300	6503	SO:0001819	synonymous_variant	0			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.474C>T	3.37:g.138739030G>A			B2RNV9	Silent	SNP	pfam_UPF0572	p.D158	ENST00000329447.5	37	c.474	CCDS33868.1	3																																																																																			PRR23B	-	pfam_UPF0572	ENSG00000184814		0.642	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23B	HGNC	protein_coding	OTTHUMT00000361501.1	-	0	163	0	G	NM_001013650		138739030	-1	tier1	-	no_errors	ENST00000329447	ensembl	human	known	74_37	silent	32.78	121	59	SNP	0.000	A	A	138739030	G	A	138739030	2	1	144	1	0	0	0	0	0	0	0	1	12637	1136	40	1		1	PRR23B	3	138739030	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	286820	138739030	59283400	97	36500											
PRR23C	389152	genome.wustl.edu	37	chr3	138762947	138762947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagcccagcggctgagccGgctgcggagtccatccagag	8	5	15	13	3	0	3	0	1	0	2	2	4	2	4	4	3	4	2	4	3	1	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:138762947G>A	ENST00000413199.1	-	1	787	c.516C>T	c.(514-516)gcC>gcT	p.A172A	PRR23C_ENST00000502927.2_Silent_p.A172A|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	172										breast(2)|lung(7)|skin(2)	11						CGGCTGAGCCGGCTGCGGAGT	0.657																																																	0													21	27	25					3																	138762947		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.516C>T	3.37:g.138762947G>A				Silent	SNP	pfam_UPF0572	p.A172	ENST00000413199.1	37	c.516	CCDS46924.1	3																																																																																			PRR23C	-	pfam_UPF0572	ENSG00000233701		0.657	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23C	HGNC	protein_coding	OTTHUMT00000361502.1	-	0	113	0	G	NM_001134657		138762947	-1	tier1	-	no_errors	ENST00000413199	ensembl	human	known	74_37	silent	56.67	65	85	SNP	0.000	A	A	138762947	G	A	138762947	2	1	144	1	0	0	0	0	0	0	0	1	12638	1103	39	1		1	PRR23C	3	138762947	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	23917	138762947	59259483	98	36501											
PLSCR2	57047	genome.wustl.edu	37	chr3	146171805	146171805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacctcaaaatcaacacccGcaatacagctgcacacgata	16	7	4	14	2	2	0	2	0	0	0	2	1	2	0	2	0	5	3	2	0	7	3	rs375128168		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr3:146171805G>T	ENST00000497985.1	-	7	1125	c.686C>A	c.(685-687)gCg>gAg	p.A229E	PLSCR2_ENST00000336685.2_Missense_Mutation_p.A156E	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	229					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)	p.A156E(1)|p.A156V(1)|p.A229E(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ATCAACACCCGCAATACAGCT	0.323																																																	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)											123	118	120					3																	146171805		2203	4300	6503	SO:0001583	missense	0				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.686C>A	3.37:g.146171805G>T	ENSP00000420132:p.Ala229Glu		B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.A156E	ENST00000497985.1	37	c.467	CCDS56284.1	3	.	.	.	.	.	.	.	.	.	.	.	7.777	0.708637	0.15239	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.21932	1.98;1.98;1.98	3.64	-6.48	0.01896	.	0.176775	0.22413	U	0.060385	T	0.10380	0.0254	L	0.28344	0.845	0.09310	N	1	B;B	0.20988	0.05;0.007	B;B	0.29077	0.098;0.019	T	0.34675	-0.9819	10	0.02654	T	1	.	12.4847	0.55866	0.0:0.5673:0.199:0.2336	.	249;156	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	E	156;248;229;156	ENSP00000338707:A156E;ENSP00000420132:A229E;ENSP00000418444:A156E	ENSP00000338707:A156E	A	-	2	0	PLSCR2	147654495	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.183000	0.01255	-1.759000	0.01313	-0.467000	0.05162	GCG	PLSCR2	-	pfam_Scramblase,superfamily_Tubby_C-like	ENSG00000163746		0.323	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	PLSCR2	HGNC	protein_coding	OTTHUMT00000355264.1		0	44	0	G	NM_020359		146171805	-1			no_errors	ENST00000336685	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.000	T	T	146171805	G	T	146171805	3	4	144	1	0	0	0	0	1	0	0	0	12149	1087	38	2	219	2	PLSCR2	3	146171805	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	7408858	146171805	51850625	99	36502											
MAN2B2	23324	genome.wustl.edu	37	chr4	6596273	6596273	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcagggatgtgacaagCagttcttcaatgcctcggtg	8	10	12	11	1	2	1	1	1	1	0	3	2	2	2	2	2	3	3	2	2	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:6596273C>T	ENST00000285599.3	+	7	907	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	MAN2B2_ENST00000504248.1_Intron	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	291					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						ATGTGACAAGCAGTTCTTCAA	0.632																																																	0													121	94	103					4																	6596273		2203	4300	6503	SO:0001587	stop_gained	0			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.871C>T	4.37:g.6596273C>T	ENSP00000285599:p.Gln291*		Q66MP2|Q86T67	Nonsense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.Q291*	ENST00000285599.3	37	c.871	CCDS33951.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.437057	0.97568	.	.	ENSG00000013288	ENST00000285599	.	.	.	4.1	4.1	0.47936	.	0.125214	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-17.7441	15.342	0.74306	0.0:1.0:0.0:0.0	.	.	.	.	X	291	.	ENSP00000285599:Q291X	Q	+	1	0	MAN2B2	6647174	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.816000	0.62642	1.836000	0.53414	0.442000	0.29010	CAG	MAN2B2	-	pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000013288		0.632	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	-	0	47	0	C	NM_015274		6596273	1	tier1	-	no_errors	ENST00000285599	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	T	T	6596273	C	T	6596273	4	4	144	1	0	0	0	0	0	1	0	0	9255	711	25	3	897	3	MAN2B2	4	6596273	Nonsense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09		6596273	184558003	100	36503											
TADA2B	93624	genome.wustl.edu	37	chr4	7056185	7056185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcggcggaagaacatcGcccgtgactacaatctggtg	11	6	13	11	4	1	2	0	1	1	1	2	4	1	3	1	3	3	0	1	3	4	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:7056185G>T	ENST00000310074.7	+	2	856	c.667G>T	c.(667-669)Gcc>Tcc	p.A223S	TADA2B_ENST00000515646.1_Missense_Mutation_p.A131S|TADA2B_ENST00000512388.1_Missense_Mutation_p.A148S	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	223					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						GAAGAACATCGCCCGTGACTA	0.567																																																	0													75	82	80					4																	7056185		2026	4204	6230	SO:0001583	missense	0			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.667G>T	4.37:g.7056185G>T	ENSP00000308022:p.Ala223Ser		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.A223S	ENST00000310074.7	37	c.667	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598885	0.87055	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	T;T;T	0.42900	0.96;0.96;0.96	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	L	0.45228	1.405	0.80722	D	1	P;P	0.47253	0.837;0.892	B;B	0.42995	0.4;0.404	T	0.40776	-0.9545	10	0.54805	T	0.06	-40.6654	18.9307	0.92564	0.0:0.0:1.0:0.0	.	148;223	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	S	223;148;131	ENSP00000308022:A223S;ENSP00000423947:A148S;ENSP00000423181:A131S	ENSP00000308022:A223S	A	+	1	0	TADA2B	7107086	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.319000	0.96338	2.481000	0.83766	0.561000	0.74099	GCC	TADA2B	-	pirsf_Transcriptional_adaptor_2	ENSG00000173011		0.567	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	-	0	84	0	G	NM_152293		7056185	1	tier1	-	no_errors	ENST00000310074	ensembl	human	known	74_37	missense	31.58	52	24	SNP	1.000	T	T	7056185	G	T	7056185	3	4	144	1	0	0	0	0	1	0	0	0	15558	1087	38	2	673	2	TADA2B	4	7056185	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	459912	7056185	184098091	101	36504											
C1QTNF7	114905	genome.wustl.edu	37	chr4	15437439	15437439	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccggggtaatcagttgaaAggagagaactactcccccag	12	6	11	12	1	1	2	1	1	0	1	2	4	2	3	4	3	2	2	4	3	4	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:15437439A>C	ENST00000444304.2	+	2	398	c.72A>C	c.(70-72)aaA>aaC	p.K24N	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.K24N|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.K31N			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	24					protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						ATCAGTTGAAAGGAGAGAACT	0.532																																																	0													82	81	81					4																	15437439		2203	4300	6503	SO:0001583	missense	0			AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.72A>C	4.37:g.15437439A>C	ENSP00000388914:p.Lys24Asn		B2RBT3|J3KPW3	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.K24N	ENST00000444304.2	37	c.72	CCDS3414.1	4	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177201	0.57692	.	.	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000382383;ENST00000429690;ENST00000444304	D;D;D;D;D	0.91577	-2.87;-2.55;-2.74;-2.53;-2.53	5.54	3.09	0.35607	.	0.048258	0.85682	D	0.000000	D	0.83105	0.5182	L	0.36672	1.1	0.52501	D	0.999954	B	0.34103	0.437	B	0.29862	0.108	T	0.77680	-0.2497	10	0.49607	T	0.09	.	8.0086	0.30340	0.7912:0.1371:0.0717:0.0	.	24	Q9BXJ2	C1QT7_HUMAN	N	31;31;24;24;24	ENSP00000380812:K31N;ENSP00000295297:K31N;ENSP00000371820:K24N;ENSP00000410722:K24N;ENSP00000388914:K24N	ENSP00000295297:K31N	K	+	3	2	C1QTNF7	15046537	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.378000	0.52432	0.468000	0.27243	0.533000	0.62120	AAA	C1QTNF7	-	NULL	ENSG00000163145		0.532	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C1QTNF7	HGNC	protein_coding	OTTHUMT00000250891.2	-	0	38	0	A			15437439	1	tier1	-	no_errors	ENST00000429690	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	C	C	15437439	A	C	15437439	3	2	144	1	0	0	0	0	1	0	0	0	1975	69	3	4	99	4	C1QTNF7	4	15437439	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	8381254	15437439	175716837	102	36505											
NSUN7	79730	genome.wustl.edu	37	chr4	40809088	40809088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgctgcaggcttagtcctCctgttcttccactgtgctcc	3	15	8	15	0	2	0	0	0	2	0	6	0	6	0	4	1	3	5	4	1	1	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:40809088C>A	ENST00000381782.2	+	11	1906	c.1411C>A	c.(1411-1413)Cct>Act	p.P471T	NSUN7_ENST00000316607.5_Intron	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	471							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GCTTAGTCCTCCTGTTCTTCC	0.368																																																	0													160	131	140					4																	40809088		692	1591	2283	SO:0001583	missense	0			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1411C>A	4.37:g.40809088C>A	ENSP00000371201:p.Pro471Thr		C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p	p.P471T	ENST00000381782.2	37	c.1411	CCDS3461.2	4	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441572	0.43326	.	.	ENSG00000179299	ENST00000381782	T	0.52295	0.67	5.73	5.73	0.89815	.	0.226577	0.43260	D	0.000582	T	0.67021	0.2849	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.68296	-0.5446	10	0.59425	D	0.04	-14.9194	15.0253	0.71667	0.0:0.9299:0.0:0.0701	.	471	Q8NE18	NSUN7_HUMAN	T	471	ENSP00000371201:P471T	ENSP00000371201:P471T	P	+	1	0	NSUN7	40503845	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	2.805000	0.47939	2.692000	0.91855	0.591000	0.81541	CCT	NSUN7	-	NULL	ENSG00000179299		0.368	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN7	HGNC	protein_coding	OTTHUMT00000250454.2		0	41	0	C	NM_024677		40809088	1			no_errors	ENST00000381782	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	40809088	C	A	40809088	3	1	144	1	0	0	0	0	1	0	0	0	10722	855	30	3	1449	3	NSUN7	4	40809088	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	25371649	40809088	150345188	103	36506											
CNGA1	1259	genome.wustl.edu	37	chr4	47938583	47938583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcatactcagccaagattCgggcaaacctggtttgcagg	11	9	10	11	1	2	1	2	0	0	1	3	1	2	1	2	3	4	3	2	3	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:47938583C>T	ENST00000514170.1	-	11	2247	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	CNGA1_ENST00000402813.3_Missense_Mutation_p.R712Q|CNGA1_ENST00000544810.1_Missense_Mutation_p.R643Q|CNGA1_ENST00000420489.2_Missense_Mutation_p.R643Q|CNGA1_ENST00000358519.4_Missense_Mutation_p.R643Q			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	643					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						AGCCAAGATTCGGGCAAACCT	0.423																																																	0													132	126	128					4																	47938583		1884	4110	5994	SO:0001583	missense	0			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.1928G>A	4.37:g.47938583C>T	ENSP00000426862:p.Arg643Gln		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R712Q	ENST00000514170.1	37	c.2135	CCDS43226.1	4	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255733	0.80135	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97066	-4.11;-4.23;-4.23;-4.23;-4.23	4.77	3.93	0.45458	.	0.053822	0.64402	N	0.000001	D	0.94961	0.8370	M	0.77712	2.385	0.54753	D	0.999988	P;P	0.38788	0.647;0.647	B;B	0.23150	0.044;0.044	D	0.93736	0.7046	10	0.52906	T	0.07	.	13.3431	0.60555	0.0:0.923:0.0:0.077	.	643;643	Q4W5E3;P29973	.;CNGA1_HUMAN	Q	712;643;643;643;643	ENSP00000384264:R712Q;ENSP00000426862:R643Q;ENSP00000443401:R643Q;ENSP00000351320:R643Q;ENSP00000389881:R643Q	ENSP00000351320:R643Q	R	-	2	0	CNGA1	47633340	0.998000	0.40836	0.992000	0.48379	0.925000	0.55904	3.826000	0.55738	1.132000	0.42129	0.491000	0.48974	CGA	CNGA1	-	NULL	ENSG00000198515		0.423	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding	OTTHUMT00000372070.2		0	41	0	C	NM_000087		47938583	-1			no_errors	ENST00000402813	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	47938583	C	T	47938583	3	4	144	1	0	0	0	0	1	0	0	0	3603	884	31	1	148	1	CNGA1	4	47938583	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	7129495	47938583	143215693	104	36507											
UTP3	57050	genome.wustl.edu	37	chr4	71555010	71555010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgagacacgggtcgtgaagGatttggctaaagtttcagtg	10	11	14	6	2	1	2	1	2	0	1	2	4	1	3	0	3	0	2	0	3	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:71555010G>A	ENST00000254803.2	+	1	815	c.616G>A	c.(616-618)Gat>Aat	p.D206N		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	206					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GGTCGTGAAGGATTTGGCTAA	0.483																																																	0													68	68	68					4																	71555010		2203	4300	6503	SO:0001583	missense	0			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.616G>A	4.37:g.71555010G>A	ENSP00000254803:p.Asp206Asn		Q6FI82	Missense_Mutation	SNP	pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D	p.D206N	ENST00000254803.2	37	c.616	CCDS3546.1	4	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816655	0.70912	.	.	ENSG00000132467	ENST00000254803	T	0.39592	1.07	5.44	5.44	0.79542	.	0.099847	0.64402	D	0.000003	T	0.44787	0.1310	M	0.62154	1.92	0.80722	D	1	P	0.36974	0.576	B	0.35039	0.194	T	0.46978	-0.9152	10	0.51188	T	0.08	-3.9163	19.2714	0.94011	0.0:0.0:1.0:0.0	.	206	Q9NQZ2	SAS10_HUMAN	N	206	ENSP00000254803:D206N	ENSP00000254803:D206N	D	+	1	0	UTP3	71773874	1.000000	0.71417	0.999000	0.59377	0.891000	0.51852	6.949000	0.75971	2.542000	0.85734	0.603000	0.83216	GAT	UTP3	-	NULL	ENSG00000132467		0.483	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP3	HGNC	protein_coding	OTTHUMT00000252163.2	-	0	52	0	G	NM_020368		71555010	1	tier1	-	no_errors	ENST00000254803	ensembl	human	known	74_37	missense	11.94	59	8	SNP	1.000	A	A	71555010	G	A	71555010	3	1	144	1	0	0	0	0	1	0	0	0	17150	1174	41	3	618	3	UTP3	4	71555010	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	23616427	71555010	119599266	105	36508											
HPGDS	27306	genome.wustl.edu	37	chr4	95220738	95220738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggttgtctaacaggtcagGcttaaagaccaaaagtgtgg	13	10	12	6	0	2	1	1	0	1	1	2	1	2	1	1	4	1	2	1	4	5	3	rs377587381		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:95220738G>A	ENST00000295256.5	-	6	583	c.493C>T	c.(493-495)Cct>Tct	p.P165S		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	165	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AACAGGTCAGGCTTAAAGACC	0.438																																					Colon(86;1802 1843 17863 46794)												0													123	116	119					4																	95220738		2203	4300	6503	SO:0001583	missense	0			D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"Glutathione S-transferases / Soluble"	17890	protein-coding gene	gene with protein product	"glutathione S-transferase sigma"	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.493C>T	4.37:g.95220738G>A	ENSP00000295256:p.Pro165Ser		Q6FHT9	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.P165S	ENST00000295256.5	37	c.493	CCDS3640.1	4	.	.	.	.	.	.	.	.	.	.	G	7.475	0.647452	0.14516	.	.	ENSG00000163106	ENST00000295256	T	0.02121	4.44	5.73	4.0	0.46444	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.452187	0.22413	N	0.060391	T	0.02230	0.0069	L	0.28400	0.85	0.38431	D	0.946454	B	0.11235	0.004	B	0.17098	0.017	T	0.52335	-0.8589	10	0.33940	T	0.23	.	8.9634	0.35860	0.139:0.1227:0.7382:0.0	.	165	O60760	HPGDS_HUMAN	S	165	ENSP00000295256:P165S	ENSP00000295256:P165S	P	-	1	0	HPGDS	95439761	0.998000	0.40836	0.731000	0.30826	0.036000	0.12997	0.816000	0.27267	0.760000	0.33108	0.655000	0.94253	CCT	HPGDS	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	ENSG00000163106		0.438	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGDS	HGNC	protein_coding	OTTHUMT00000253587.1	-	0	69	0	G	NM_014485		95220738	-1	tier1	-	no_errors	ENST00000295256	ensembl	human	known	74_37	missense	13.40	84	13	SNP	0.844	A	A	95220738	G	A	95220738	3	1	144	1	0	0	0	0	1	0	0	0	7362	1203	42	3	110	3	HPGDS	4	95220738	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	23665728	95220738	95933538	106	36509											
GSTCD	79807	genome.wustl.edu	37	chr4	106763267	106763267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaccagacagctgtccagCtcccaccccaacgaaggctc	11	4	8	18	1	0	2	0	0	0	2	3	3	2	2	5	1	3	3	5	1	2	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:106763267C>T	ENST00000515279.1	+	11	1961	c.1741C>T	c.(1741-1743)Ctc>Ttc	p.L581F	GSTCD_ENST00000394728.3_Missense_Mutation_p.L581F|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000360505.5_Missense_Mutation_p.L581F|GSTCD_ENST00000394730.3_Missense_Mutation_p.L494F			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	581						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AGCTGTCCAGCTCCCACCCCA	0.408																																																	0													116	108	110					4																	106763267		1905	4134	6039	SO:0001583	missense	0			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.1741C>T	4.37:g.106763267C>T	ENSP00000422354:p.Leu581Phe		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like	p.L581F	ENST00000515279.1	37	c.1741	CCDS43257.1	4	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091284	0.55968	.	.	ENSG00000138780	ENST00000394730;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.27	4.4	0.53042	.	0.139850	0.45606	D	0.000342	T	0.46132	0.1377	L	0.50919	1.6	0.52501	D	0.999956	P;B	0.49862	0.929;0.024	B;B	0.43103	0.408;0.013	T	0.42292	-0.9460	9	0.45353	T	0.12	-2.0712	8.4964	0.33130	0.1544:0.7691:0.0:0.0765	.	581;204	Q8NEC7;B7Z8J7	GSTCD_HUMAN;.	F	494;581;581;581	.	ENSP00000353695:L581F	L	+	1	0	GSTCD	106982716	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.642000	0.54367	1.147000	0.42369	0.591000	0.81541	CTC	GSTCD	-	NULL	ENSG00000138780		0.408	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSTCD	HGNC	protein_coding	OTTHUMT00000363981.1	-	0	32	0	C	NM_024751		106763267	1	tier1	-	no_errors	ENST00000360505	ensembl	human	known	74_37	missense	37.74	33	20	SNP	1.000	T	T	106763267	C	T	106763267	3	4	144	1	0	0	0	0	1	0	0	0	6862	797	28	3	1779	3	GSTCD	4	106763267	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	11542529	106763267	84391009	107	36510											
TNIP3	79931	genome.wustl.edu	37	chr4	122075707	122075707	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttgacctgactgataccTtattgaggcgttttatttca	8	17	8	8	1	1	4	1	4	0	0	1	4	1	4	2	1	2	2	2	1	3	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:122075707T>C	ENST00000509841.1	-	8	800	c.722A>G	c.(721-723)aAg>aGg	p.K241R	TNIP3_ENST00000507879.1_Splice_Site_p.K234R|TNIP3_ENST00000057513.3_Splice_Site_p.K164R|TNIP3_ENST00000454328.1_Splice_Site_p.K164R	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GACTGATACCTTATTGAGGCG	0.373																																																	0													182	169	173					4																	122075707		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.723+1A>G	4.37:g.122075707T>C				Missense_Mutation	SNP	NULL	p.K164R	ENST00000509841.1	37	c.491	CCDS58926.1	4	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021812	0.75275	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	4.71	4.71	0.59529	.	0.165608	0.41712	D	0.000830	T	0.75554	0.3865	M	0.66506	2.035	0.36413	D	0.863848	D;D;D	0.76494	0.997;0.997;0.999	P;P;D	0.69479	0.881;0.881;0.964	T	0.81990	-0.0679	10	0.56958	D	0.05	-17.302	14.0733	0.64874	0.0:0.0:0.0:1.0	.	234;164;164	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	R	164;164;234;241	ENSP00000057513:K164R;ENSP00000411817:K164R;ENSP00000427106:K234R;ENSP00000426613:K241R	ENSP00000057513:K164R	K	-	2	0	TNIP3	122295157	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.407000	0.59754	2.066000	0.61787	0.533000	0.62120	AAG	TNIP3	-	NULL	ENSG00000050730		0.373	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	TNIP3	HGNC	protein_coding	OTTHUMT00000364000.4	-	0	59	0	T	NM_024873	Missense_Mutation	122075707	-1	tier1	-	no_errors	ENST00000057513	ensembl	human	known	74_37	missense	36.17	60	34	SNP	1.000	C	C	122075707	T	C	122075707	5	2	144	1	0	0	0	0	0	0	1	0	16363	1623	56	4	514	4	TNIP3	4	122075707	Splice_Site	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	15312440	122075707	69078569	108	36511											
BBS7	55212	genome.wustl.edu	37	chr4	122756435	122756435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactggccttcaattgagcGaatctgattcaacacaaaag	15	10	7	9	1	3	2	2	2	1	0	3	3	3	2	1	1	3	0	1	1	6	4	rs150743868	byFrequency	TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:122756435G>T	ENST00000264499.4	-	14	1558	c.1375C>A	c.(1375-1377)Cgc>Agc	p.R459S	BBS7_ENST00000506636.1_Missense_Mutation_p.R459S	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	459					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCAATTGAGCGAATCTGATTC	0.358									Bardet-Biedl syndrome																																								0													157	142	147					4																	122756435		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1375C>A	4.37:g.122756435G>T	ENSP00000264499:p.Arg459Ser		Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.R459S	ENST00000264499.4	37	c.1375	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306029	0.81247	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.76060	-0.99;-0.99	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.88262	0.6389	M	0.88241	2.94	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.87885	0.2680	10	0.37606	T	0.19	-9.2483	19.2795	0.94046	0.0:0.0:1.0:0.0	.	459	Q8IWZ6	BBS7_HUMAN	S	459	ENSP00000264499:R459S;ENSP00000423626:R459S	ENSP00000264499:R459S	R	-	1	0	BBS7	122975885	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.005000	0.70716	2.549000	0.85964	0.650000	0.86243	CGC	BBS7	-	pirsf_Bardet-Biedl_syndrome_7_prot	ENSG00000138686		0.358	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1		0	53	0	G			122756435	-1			no_errors	ENST00000264499	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	122756435	G	T	122756435	3	4	144	1	0	0	0	0	1	0	0	0	1342	1058	37	2	801	2	BBS7	4	122756435	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	680728	122756435	68397841	109	36512											
FAT4	79633	genome.wustl.edu	37	chr4	126241321	126241321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcactattctataataaaagGaaatgaagaaagacagtttg	19	11	7	4	0	2	3	1	1	1	2	2	4	2	4	0	1	0	1	0	1	8	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:126241321G>T	ENST00000394329.3	+	1	3768	c.3755G>T	c.(3754-3756)gGa>gTa	p.G1252V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1252	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1252E(2)		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						ATAATAAAAGGAAATGAAGAA	0.363																																																	2	Substitution - Missense(2)	skin(2)											57	55	55					4																	126241321		1845	4105	5950	SO:0001583	missense	0			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.3755G>T	4.37:g.126241321G>T	ENSP00000377862:p.Gly1252Val		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G1252V	ENST00000394329.3	37	c.3755	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419435	0.62622	.	.	ENSG00000196159	ENST00000394329	T	0.67171	-0.25	4.81	4.81	0.61882	Cadherin (4);Cadherin-like (1);	0.000000	0.33610	U	0.004730	D	0.83445	0.5256	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86277	0.1665	10	0.87932	D	0	.	18.0596	0.89373	0.0:0.0:1.0:0.0	.	1252	Q6V0I7	FAT4_HUMAN	V	1252	ENSP00000377862:G1252V	ENSP00000377862:G1252V	G	+	2	0	FAT4	126460771	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.454000	0.97621	2.503000	0.84419	0.561000	0.74099	GGA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.363	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0	46	0	G	NM_024582		126241321	1			no_errors	ENST00000394329	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	126241321	G	T	126241321	3	4	144	1	0	0	0	0	1	0	0	0	5714	1174	41	3	3757	3	FAT4	4	126241321	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3484886	126241321	64912955	110	36513											
FAT4	79633	genome.wustl.edu	37	chr4	126402848	126402848	+	Silent	SNP	C	C	T	0	0	0	1	1	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	aggaccagaagcgagaatggCgttttaatccatatccaaga	15	8	10	8	2	0	3	0	0	0	3	2	5	2	4	3	2	1	1	3	2	5	3	rs558612271		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:126402848C>T	ENST00000394329.3	+	15	12784	c.12771C>T	c.(12769-12771)ggC>ggT	p.G4257G	FAT4_ENST00000335110.5_Silent_p.G2498G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4257	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						GCGAGAATGGCGTTTTAATCC	0.433																																																	0													105	99	101					4																	126402848		2203	4300	6503	SO:0001819	synonymous_variant	0			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.12771C>T	4.37:g.126402848C>T			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G4257	ENST00000394329.3	37	c.12771	CCDS3732.3	4																																																																																			FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196159		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	50	0	C	NM_024582		126402848	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	silent	49.37	40	39	SNP	0.976	T	T	126402848	C	T	126402848	2	4	144	1	0	0	0	0	0	0	0	1	5714	755	27	1		1	FAT4	4	126402848	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	161527	126402848	64751428	111	36514											
PCDH10	57575	genome.wustl.edu	37	chr4	134073782	134073782	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgcctgacccctgagtcCgccaagaccgacctgatgtt	8	9	10	14	2	0	4	0	3	0	1	1	5	1	4	7	0	1	2	7	0	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:134073782C>T	ENST00000264360.5	+	1	3313	c.2487C>T	c.(2485-2487)tcC>tcT	p.S829S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	829					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)		CCCCTGAGTCCGCCAAGACCG	0.612																																																	0													86	76	80					4																	134073782		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2487C>T	4.37:g.134073782C>T			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S829	ENST00000264360.5	37	c.2487	CCDS34063.1	4																																																																																			PCDH10	-	NULL	ENSG00000138650		0.612	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	88	0	C	NM_032961		134073782	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	silent	38.46	32	20	SNP	1.000	T	T	134073782	C	T	134073782	2	4	144	1	0	0	0	0	0	0	0	1	11546	639	23	1		1	PCDH10	4	134073782	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	7670934	134073782	57080494	112	36515											
PCDH10	57575	genome.wustl.edu	37	chr4	134073920	134073920	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacggaagcattttgtcCaacgaggtaaggctgaagcg	12	8	12	9	3	0	1	0	1	0	0	2	3	2	2	2	3	4	3	2	3	5	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:134073920C>A	ENST00000264360.5	+	1	3451	c.2625C>A	c.(2623-2625)tcC>tcA	p.S875S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	875					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)		GCATTTTGTCCAACGAGGTAA	0.552																																																	0													79	78	79					4																	134073920		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2625C>A	4.37:g.134073920C>A			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S875	ENST00000264360.5	37	c.2625	CCDS34063.1	4																																																																																			PCDH10	-	NULL	ENSG00000138650		0.552	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2		0	69	0	C	NM_032961		134073920	1			no_errors	ENST00000264360	ensembl	human	known	74_37	silent	6.67	28	2	SNP	1.000	A	A	134073920	C	A	134073920	2	1	144	1	0	0	0	0	0	0	0	1	11546	581	21	3		3	PCDH10	4	134073920	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	138	134073920	57080356	113	36516											
SFRP2	6423	genome.wustl.edu	37	chr4	154702638	154702638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggatgctgcgggagatgcGcttgaactctctctgcccct	5	10	13	13	3	2	2	0	1	2	1	3	4	2	3	2	2	5	2	2	2	1	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:154702638G>A	ENST00000274063.4	-	3	1137	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	285	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R285C(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CGGGAGATGCGCTTGAACTCT	0.617																																																	1	Substitution - Missense(1)	prostate(1)											111	90	97					4																	154702638		2203	4300	6503	SO:0001583	missense	0			AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.853C>T	4.37:g.154702638G>A	ENSP00000274063:p.Arg285Cys		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.R285C	ENST00000274063.4	37	c.853	CCDS34082.1	4	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647889	0.67358	.	.	ENSG00000145423	ENST00000274063	T	0.26223	1.75	5.95	5.95	0.96441	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.28073	-1.0055	10	0.52906	T	0.07	.	15.9197	0.79552	0.0:0.0:0.8643:0.1357	.	285	Q96HF1	SFRP2_HUMAN	C	285	ENSP00000274063:R285C	ENSP00000274063:R285C	R	-	1	0	SFRP2	154922088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.495000	0.53280	2.811000	0.96726	0.655000	0.94253	CGC	SFRP2	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain	ENSG00000145423		0.617	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP2	HGNC	protein_coding	OTTHUMT00000365296.1	-	0	36	0	G			154702638	-1	tier1	-	no_errors	ENST00000274063	ensembl	human	known	74_37	missense	32.73	36	18	SNP	1.000	A	A	154702638	G	A	154702638	3	1	144	1	0	0	0	0	1	0	0	0	14207	1087	38	1	38	1	SFRP2	4	154702638	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	20628718	154702638	36451638	114	36517											
DDX60	55601	genome.wustl.edu	37	chr4	169201719	169201719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttttcttattctctctaGcaattatttcagccttggtc	7	19	4	11	0	4	0	1	0	3	0	6	0	4	0	2	1	2	1	2	1	4	8			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:169201719G>T	ENST00000393743.3	-	14	2036	c.1745C>A	c.(1744-1746)gCt>gAt	p.A582D		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	582					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)		ATTCTCTCTAGCAATTATTTC	0.348																																																	0													46	48	47					4																	169201719		2203	4300	6503	SO:0001583	missense	0			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.1745C>A	4.37:g.169201719G>T	ENSP00000377344:p.Ala582Asp		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A582D	ENST00000393743.3	37	c.1745	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	G	5.953	0.359785	0.11296	.	.	ENSG00000137628	ENST00000393743	T	0.19394	2.15	5.58	1.34	0.21922	.	1.297200	0.04861	N	0.444220	T	0.15869	0.0382	L	0.40543	1.245	0.09310	N	1	B	0.28552	0.215	B	0.25291	0.059	T	0.28996	-1.0026	10	0.12103	T	0.63	.	5.7016	0.17885	0.3564:0.0:0.511:0.1327	.	582	Q8IY21	DDX60_HUMAN	D	582	ENSP00000377344:A582D	ENSP00000377344:A582D	A	-	2	0	DDX60	169438294	0.000000	0.05858	0.003000	0.11579	0.117000	0.20001	-0.112000	0.10791	0.306000	0.22856	0.563000	0.77884	GCT	DDX60	-	NULL	ENSG00000137628		0.348	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1		0	34	0	G	NM_017631		169201719	-1			no_errors	ENST00000393743	ensembl	human	known	74_37	missense	7.14	65	5	SNP	0.000	T	T	169201719	G	T	169201719	3	4	144	1	0	0	0	0	1	0	0	0	4387	971	34	3	3493	3	DDX60	4	169201719	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	14499081	169201719	21952557	115	36518											
SH3RF1	57630	genome.wustl.edu	37	chr4	170057668	170057668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtgtcggagtgctttGgggcagtgctgctctgggct	2	14	17	8	1	2	0	0	0	2	0	3	1	2	1	0	5	3	5	0	5	0	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:170057668G>T	ENST00000284637.9	-	5	1210	c.869C>A	c.(868-870)cCa>cAa	p.P290Q	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	290					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)		GGAGTGCTTTGGGGCAGTGCT	0.562																																																	0													180	162	168					4																	170057668		2203	4300	6503	SO:0001583	missense	0			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.869C>A	4.37:g.170057668G>T	ENSP00000284637:p.Pro290Gln		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain	p.P290Q	ENST00000284637.9	37	c.869	CCDS34099.1	4	.	.	.	.	.	.	.	.	.	.	G	2.524	-0.310067	0.05458	.	.	ENSG00000154447	ENST00000284637	T	0.04502	3.61	5.48	4.58	0.56647	.	0.481847	0.24547	N	0.037594	T	0.01558	0.0050	N	0.00656	-1.285	0.28473	N	0.915347	B	0.02656	0.0	B	0.04013	0.001	T	0.42932	-0.9422	10	0.10902	T	0.67	-3.4117	11.9822	0.53125	0.0:0.0:0.6687:0.3313	.	290	Q7Z6J0	SH3R1_HUMAN	Q	290	ENSP00000284637:P290Q	ENSP00000284637:P290Q	P	-	2	0	SH3RF1	170294243	1.000000	0.71417	0.995000	0.50966	0.127000	0.20565	5.336000	0.65935	2.743000	0.94032	0.655000	0.94253	CCA	SH3RF1	-	NULL	ENSG00000154447		0.562	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3RF1	HGNC	protein_coding	OTTHUMT00000363382.3	-	0	48	0	G	NM_020870		170057668	-1	tier1	-	no_errors	ENST00000284637	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.999	T	T	170057668	G	T	170057668	3	4	144	1	0	0	0	0	1	0	0	0	14303	1348	47	3	1829	3	SH3RF1	4	170057668	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	855949	170057668	21096608	116	36519											
ODZ3	55714	genome.wustl.edu	37	chr4	183600932	183600932	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtcagccttcatgaggcCggctttatccagtacttgga	7	12	10	12	2	2	1	2	1	0	0	4	2	4	2	4	3	2	2	4	3	2	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:183600932C>T	ENST00000511685.1	+	8	1563	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	TENM3_ENST00000406950.2_Silent_p.A480A			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	480					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)										TTCATGAGGCCGGCTTTATCC	0.517																																																	0													48	54	52					4																	183600932		1858	4087	5945	SO:0001819	synonymous_variant	0			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.1440C>T	4.37:g.183600932C>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A480	ENST00000511685.1	37	c.1440	CCDS47165.1	4																																																																																			TENM3	-	NULL	ENSG00000218336		0.517	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0	46	0	C			183600932	1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	silent	44.62	36	29	SNP	0.763	T	T	183600932	C	T	183600932	2	4	144	1	0	0	0	0	0	0	0	1	10875	639	23	1		1	ODZ3	4	183600932	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	13543264	183600932	7553344	117	36520											
FAT1	2195	genome.wustl.edu	37	chr4	187510244	187510244	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcgtagcctccagggtaataGtccgtatcgatggcgtttgg	7	12	13	9	4	0	0	0	0	0	0	4	1	2	0	3	3	1	4	3	3	4	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr4:187510244G>T	ENST00000441802.2	-	27	13478	c.13269C>A	c.(13267-13269)gaC>gaA	p.D4423E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4423					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						CAGGGTAATAGTCCGTATCGA	0.532										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													229	229	229					4																	187510244		2026	4185	6211	SO:0001583	missense	0			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.13269C>A	4.37:g.187510244G>T	ENSP00000406229:p.Asp4423Glu			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.D4423E	ENST00000441802.2	37	c.13269	CCDS47177.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.79|16.79	3.221286|3.221286	0.58560|0.58560	.|.	.|.	ENSG00000083857|ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509927|ENST00000512772;ENST00000507105	T;T|.	0.49432|.	0.78;0.78|.	5.37|5.37	4.53|4.53	0.55603|0.55603	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73218|0.73218	0.3559|0.3559	M|M	0.80422|0.80422	2.495|2.495	0.58432|0.58432	D|D	0.999992|0.999992	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.74645|0.74645	-0.3596|-0.3596	10|5	0.39692|.	T|.	0.17|.	.|.	10.6382|10.6382	0.45577|0.45577	0.1461:0.0:0.8539:0.0|0.1461:0.0:0.8539:0.0	.|.	4423|.	Q14517|.	FAT1_HUMAN|.	E|I	4423;4425;113|203;191	ENSP00000406229:D4423E;ENSP00000420869:D113E|.	ENSP00000260147:D4425E|.	D|L	-|-	3|1	2|2	FAT1|FAT1	187747238|187747238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.384000|0.384000	0.30261|0.30261	3.167000|3.167000	0.50793|0.50793	1.505000|1.505000	0.48720|0.48720	0.455000|0.455000	0.32223|0.32223	GAC|CTA	FAT1	-	NULL	ENSG00000083857		0.532	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	0	58	0	G	NM_005245		187510244	-1	tier1	-	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	187510244	G	T	187510244	3	4	144	1	0	0	0	0	1	0	0	0	5711	1020	36	3	501	3	FAT1	4	187510244	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3909312	187510244	3644032	118	36521											
SLC9A3	6550	genome.wustl.edu	37	chr5	475247	475247	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaacacagggttgtcaattCctaggagagagggcagcggc	13	6	14	8	1	1	1	1	0	0	1	2	3	2	2	1	4	2	2	1	4	4	3	rs189017275		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:475247C>A	ENST00000264938.3	-	16	2261	c.2252G>T	c.(2251-2253)gGa>gTa	p.G751V	CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Splice_Site_p.G742V|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.5_ENST00000510604.1_5'Flank|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.5_ENST00000510714.1_5'Flank|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.5_ENST00000342584.3_5'Flank	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	751					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)			GTTGTCAATTCCTAGGAGAGA	0.682																																																	0													33	42	39					5																	475247		2203	4299	6502	SO:0001630	splice_region_variant	0				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.2252-1G>T	5.37:g.475247C>A			B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.G751V	ENST00000264938.3	37	c.2252	CCDS3855.1	5	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120658	0.77323	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.73789	-0.78;-0.78	5.05	5.05	0.67936	.	1.760780	0.02682	N	0.109725	D	0.89005	0.6592	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75110	-0.3433	10	0.66056	D	0.02	.	16.1676	0.81782	0.0:1.0:0.0:0.0	.	742;751	E9PF67;P48764	.;SL9A3_HUMAN	V	751;742	ENSP00000264938:G751V;ENSP00000422983:G742V	ENSP00000264938:G751V	G	-	2	0	SLC9A3	528247	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.056000	0.71111	2.350000	0.79820	0.462000	0.41574	GGA	SLC9A3	-	NULL	ENSG00000066230		0.682	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3	HGNC	protein_coding	OTTHUMT00000206677.2	-	0	24	0	C	NM_004174	Missense_Mutation	475247	-1	tier1	-	no_errors	ENST00000264938	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	A	A	475247	C	A	475247	5	1	144	1	0	0	0	0	0	0	1	0	14758	869	30	3	260	3	SLC9A3	5	475247	Splice_Site	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09		475247	180440013	119	36522											
IL7R	3575	genome.wustl.edu	37	chr5	35876108	35876108	+	Silent	SNP	T	T	G	0	1	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	ttaaatgtgagtttcaatccTgaaagtttcctggactgcca	11	14	8	8	0	1	2	1	2	0	0	3	3	3	3	3	1	1	2	3	1	4	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:35876108T>G	ENST00000303115.3	+	8	1029	c.900T>G	c.(898-900)ccT>ccG	p.P300P	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	300					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)			GTTTCAATCCTGAAAGTTTCC	0.418			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																																	Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0													86	82	83					5																	35876108		2203	4300	6503	SO:0001819	synonymous_variant	0			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.900T>G	5.37:g.35876108T>G			B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3	p.P300	ENST00000303115.3	37	c.900	CCDS3911.1	5																																																																																			IL7R	-	NULL	ENSG00000168685		0.418	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7R	HGNC	protein_coding	OTTHUMT00000207577.2	-	0	41	0	T			35876108	1	tier1	-	no_errors	ENST00000303115	ensembl	human	known	74_37	silent	84.44	7	38	SNP	0.871	G	G	35876108	T	G	35876108	2	3	144	1	0	0	0	0	0	0	0	1	7732	1567	55	4		4	IL7R	5	35876108	Silent	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	35400861	35876108	145039152	120	36523											
RASGRF2	5924	genome.wustl.edu	37	chr5	80419466	80419466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttttcaagcagcagtcCtagagtctgcaccagcggac	10	9	11	11	1	2	1	1	0	1	1	3	3	3	2	2	1	4	4	2	1	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:80419466C>A	ENST00000265080.4	+	16	2543	c.2476C>A	c.(2476-2478)Cta>Ata	p.L826I		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	826					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)		AGCAGCAGTCCTAGAGTCTGC	0.483																																																	0													86	80	82					5																	80419466		2203	4300	6503	SO:0001583	missense	0			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.2476C>A	5.37:g.80419466C>A	ENSP00000265080:p.Leu826Ile		B9EG89|Q9UK56	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L826I	ENST00000265080.4	37	c.2476	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057669	0.36277	.	.	ENSG00000113319	ENST00000265080	T	0.74842	-0.88	5.98	3.24	0.37175	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	4.928250	0.00166	N	0.000002	T	0.74321	0.3701	M	0.65975	2.015	0.34144	D	0.666787	B	0.23650	0.089	B	0.17433	0.018	T	0.53107	-0.8485	10	0.29301	T	0.29	.	9.5623	0.39378	0.0:0.7295:0.0:0.2705	.	826	O14827	RGRF2_HUMAN	I	826	ENSP00000265080:L826I	ENSP00000265080:L826I	L	+	1	2	RASGRF2	80455222	0.995000	0.38212	0.026000	0.17262	0.147000	0.21601	1.638000	0.37165	0.412000	0.25729	0.591000	0.81541	CTA	RASGRF2	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N	ENSG00000113319		0.483	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	-	0	59	0	C	NM_006909		80419466	1	tier1	-	no_errors	ENST00000265080	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.882	A	A	80419466	C	A	80419466	3	1	144	1	0	0	0	0	1	0	0	0	13118	680	24	3	2538	3	RASGRF2	5	80419466	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	44543358	80419466	100495794	121	36524											
PCSK1	5122	genome.wustl.edu	37	chr5	95757621	95757621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatatcggggaaatggatCatggtcattatcattaaaat	15	13	8	5	1	4	0	4	0	0	0	5	2	4	2	0	4	0	0	0	4	5	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:95757621C>A	ENST00000311106.3	-	5	820	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.D148Y	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	195	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)"	GGAAATGGATCATGGTCATTA	0.303																																																	0													147	147	147					5																	95757621		2203	4300	6503	SO:0001583	missense	0				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.583G>T	5.37:g.95757621C>A	ENSP00000308024:p.Asp195Tyr		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.D195Y	ENST00000311106.3	37	c.583	CCDS4081.1	5	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931223	0.92389	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.81579	-1.51;-1.51	5.82	5.82	0.92795	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.90625	0.7060	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.90018	0.4126	10	0.48119	T	0.1	-27.6928	19.6917	0.96005	0.0:1.0:0.0:0.0	.	195	P29120	NEC1_HUMAN	Y	195;148	ENSP00000308024:D195Y;ENSP00000421600:D148Y	ENSP00000308024:D195Y	D	-	1	0	PCSK1	95783377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	2.751000	0.94390	0.650000	0.86243	GAT	PCSK1	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000175426		0.303	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK1	HGNC	protein_coding	OTTHUMT00000242851.1		0	34	0	C	NM_000439		95757621	-1			no_errors	ENST00000311106	ensembl	human	known	74_37	missense	5.08	55	3	SNP	1.000	A	A	95757621	C	A	95757621	3	1	144	1	0	0	0	0	1	0	0	0	11639	826	29	3	1718	3	PCSK1	5	95757621	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	15338155	95757621	85157639	122	36525											
FBN2	2201	genome.wustl.edu	37	chr5	127595289	127595289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatttccagtgtgtatgtgCcgggcatgagcttcttcttg	5	16	12	8	1	2	2	0	2	2	0	3	2	3	2	2	1	2	3	2	1	1	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:127595289C>T	ENST00000508053.1	-	71	9571	c.8597G>A	c.(8596-8598)gGc>gAc	p.G2866D	FBN2_ENST00000262464.4_Missense_Mutation_p.G2866D			P35556	FBN2_HUMAN	fibrillin 2	2866					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTGTATGTGCCGGGCATGAG	0.502																																																	0													234	208	217					5																	127595289		2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8597G>A	5.37:g.127595289C>T	ENSP00000424571:p.Gly2866Asp		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G2866D	ENST00000508053.1	37	c.8597	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625387	0.28889	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	T;T	0.61158	0.13;0.13	5.49	4.63	0.57726	.	0.000000	0.64402	D	0.000005	T	0.56790	0.2009	M	0.63843	1.955	0.49798	D	0.999828	P	0.37500	0.597	B	0.37650	0.255	T	0.61710	-0.7007	10	0.54805	T	0.06	.	14.3998	0.67034	0.0:0.9296:0.0:0.0704	.	2866	P35556	FBN2_HUMAN	D	2866	ENSP00000262464:G2866D;ENSP00000424571:G2866D	ENSP00000262464:G2866D	G	-	2	0	FBN2	127623188	1.000000	0.71417	0.493000	0.27502	0.003000	0.03518	5.762000	0.68809	1.565000	0.49641	-0.229000	0.12294	GGC	FBN2	-	pirsf_FBN,superfamily_Cadherin-like	ENSG00000138829		0.502	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2		0	50	0	C	NM_001999		127595289	-1			no_errors	ENST00000262464	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.999	T	T	127595289	C	T	127595289	3	4	144	1	0	0	0	0	1	0	0	0	5725	739	26	3	145	3	FBN2	5	127595289	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	31837668	127595289	53319971	123	36526											
SLC22A4	6583	genome.wustl.edu	37	chr5	131663064	131663064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaaaaatgaacaacataGctgtaccagcagtgatattt	16	10	7	8	0	0	2	0	2	0	0	0	2	0	2	1	0	6	4	1	0	7	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:131663064G>T	ENST00000200652.3	+	5	1093	c.919G>T	c.(919-921)Gct>Tct	p.A307S	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	307					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	GAACAACATAGCTGTACCAGC	0.378																																																	0													78	78	78					5																	131663064		2203	4300	6503	SO:0001583	missense	0			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.919G>T	5.37:g.131663064G>T	ENSP00000200652:p.Ala307Ser		O14546	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A307S	ENST00000200652.3	37	c.919	CCDS4153.1	5	.	.	.	.	.	.	.	.	.	.	G	8.346	0.829775	0.16749	.	.	ENSG00000197208	ENST00000200652	T	0.73152	-0.72	5.85	-6.21	0.02065	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.046210	0.07454	N	0.899478	T	0.35451	0.0932	N	0.02973	-0.45	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.26087	-1.0113	10	0.11794	T	0.64	.	4.2944	0.10894	0.3239:0.37:0.2291:0.0771	.	307	Q9H015	S22A4_HUMAN	S	307	ENSP00000200652:A307S	ENSP00000200652:A307S	A	+	1	0	SLC22A4	131690963	0.000000	0.05858	0.000000	0.03702	0.238000	0.25445	-0.676000	0.05221	-1.241000	0.02526	0.655000	0.94253	GCT	SLC22A4	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197208		0.378	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A4	HGNC	protein_coding	OTTHUMT00000132661.1	-	0	58	0	G	NM_003059		131663064	1	tier1	-	no_errors	ENST00000200652	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	T	T	131663064	G	T	131663064	3	4	144	1	0	0	0	0	1	0	0	0	14501	971	34	3	937	3	SLC22A4	5	131663064	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	4067775	131663064	49252196	124	36527											
SLC23A1	9963	genome.wustl.edu	37	chr5	138717693	138717693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacacagcgcctcagccaGcaggaagggcacggcgatgg	11	2	14	14	3	1	0	1	0	0	0	1	2	1	1	2	4	3	2	2	4	1	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:138717693G>T	ENST00000348729.3	-	3	242	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	SLC23A1_ENST00000353963.3_Missense_Mutation_p.L66M|SLC23A1_ENST00000503919.1_5'UTR	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	66					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)	GCCTCAGCCAGCAGGAAGGGC	0.612																																																	0													89	64	73					5																	138717693		2203	4300	6503	SO:0001583	missense	0			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.196C>A	5.37:g.138717693G>T	ENSP00000302701:p.Leu66Met		O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.L66M	ENST00000348729.3	37	c.196	CCDS4212.1	5	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821963	0.71028	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000339881;ENST00000453898;ENST00000508270	T;T;T	0.19394	2.15;2.15;2.15	4.82	2.1	0.27182	.	0.079486	0.53938	D	0.000058	T	0.47229	0.1434	M	0.87038	2.855	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.45483	-0.9258	10	0.66056	D	0.02	-9.507	9.5598	0.39362	0.2251:0.0:0.7749:0.0	.	66;66	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	M	66;66;66;66;140	ENSP00000302851:L66M;ENSP00000302701:L66M;ENSP00000427271:L140M	ENSP00000343584:L66M	L	-	1	2	SLC23A1	138745592	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	3.969000	0.56816	0.257000	0.21650	0.448000	0.29417	CTG	SLC23A1	-	pfam_Xant/urac/vitC	ENSG00000170482		0.612	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	SLC23A1	HGNC	protein_coding	OTTHUMT00000374185.1		0	59	0	G	NM_152685		138717693	-1			no_errors	ENST00000353963	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	138717693	G	T	138717693	3	4	144	1	0	0	0	0	1	0	0	0	14507	962	34	3	1660	3	SLC23A1	5	138717693	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	7054629	138717693	42197567	125	36528											
PCDHB16	57717	genome.wustl.edu	37	chr5	140562945	140562945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccgccagggatttagacGgcggagccaatggaaaaata	13	7	12	9	3	1	1	0	0	1	1	2	4	1	4	3	4	1	0	3	4	5	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:140562945G>A	ENST00000361016.2	+	1	1966	c.811G>A	c.(811-813)Ggc>Agc	p.G271S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	271	Cadherin 3. {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)	p.G271S(1)		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)			GGATTTAGACGGCGGAGCCAA	0.488																																																	1	Substitution - Missense(1)	lung(1)											62	64	64					5																	140562945		2203	4300	6503	SO:0001583	missense	0			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.811G>A	5.37:g.140562945G>A	ENSP00000354293:p.Gly271Ser		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G271S	ENST00000361016.2	37	c.811	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	g	4.620	0.115281	0.08831	.	.	ENSG00000196963	ENST00000361016	T	0.01145	5.27	4.75	-0.71	0.11234	Cadherin (5);Cadherin-like (1);	0.940200	0.08702	N	0.906228	T	0.00356	0.0011	N	0.00159	-1.955	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44298	-0.9337	10	0.14252	T	0.57	.	4.6413	0.12550	0.3263:0.0:0.4028:0.2709	.	271	Q9NRJ7	PCDBG_HUMAN	S	271	ENSP00000354293:G271S	ENSP00000354293:G271S	G	+	1	0	PCDHB16	140543129	0.000000	0.05858	0.003000	0.11579	0.676000	0.39594	0.473000	0.22132	-0.409000	0.07553	-0.383000	0.06682	GGC	PCDHB16	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000196963		0.488	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	-	0	68	0	G	NM_020957		140562945	1	tier1	-	no_errors	ENST00000361016	ensembl	human	known	74_37	missense	86.96	9	60	SNP	0.157	A	A	140562945	G	A	140562945	3	1	144	1	0	0	0	0	1	0	0	0	11580	1116	39	1	813	1	PCDHB16	5	140562945	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1845252	140562945	40352315	126	36529											
PCDHGA2	56113	genome.wustl.edu	37	chr5	140720764	140720764	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cagagctcgcactttgtgggCgtggacggggttcgggcttt	4	11	17	9	4	0	1	0	0	0	1	2	2	0	2	0	5	1	4	0	5	0	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:140720764C>T	ENST00000394576.2	+	1	2226	c.2226C>T	c.(2224-2226)ggC>ggT	p.G742G	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	742					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)			ACTTTGTGGGCGTGGACGGGG	0.627																																																	0													74	78	77					5																	140720764		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2226C>T	5.37:g.140720764C>T			Q52LL6|Q9Y5D5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G742	ENST00000394576.2	37	c.2226	CCDS47289.1	5																																																																																			PCDHGA2	-	NULL	ENSG00000081853		0.627	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	-	0	203	0	C	NM_018915		140720764	1	tier1	-	no_errors	ENST00000394576	ensembl	human	known	74_37	silent	13.10	126	19	SNP	0.111	T	T	140720764	C	T	140720764	2	4	144	1	0	0	0	0	0	0	0	1	11593	755	27	1		1	PCDHGA2	5	140720764	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	157819	140720764	40194496	127	36530											
PCDHGB4	8641	genome.wustl.edu	37	chr5	140768647	140768647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	attaacttcttcaagaaacaCgtataaattagtgacagatg	17	12	6	6	1	2	3	1	1	1	2	2	3	2	3	0	0	2	1	0	0	7	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:140768647C>T	ENST00000519479.1	+	1	1196	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	399	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGAAACACGTATAAATTA	0.433																																																	0													125	126	126					5																	140768647		1907	4129	6036	SO:0001583	missense	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1196C>T	5.37:g.140768647C>T	ENSP00000428288:p.Thr399Met		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T399M	ENST00000519479.1	37	c.1196	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	15.32	2.797342	0.50208	.	.	ENSG00000253953	ENST00000519479	T	0.01767	4.65	5.18	1.04	0.20106	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02649	0.0080	L	0.35288	1.05	0.09310	N	1	P;P	0.52463	0.889;0.953	P;P	0.51487	0.541;0.671	T	0.49103	-0.8974	9	0.87932	D	0	.	4.7398	0.13007	0.4434:0.393:0.0:0.1637	.	399;399	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	M	399	ENSP00000428288:T399M	ENSP00000428288:T399M	T	+	2	0	PCDHGB4	140748831	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.349000	0.20055	0.639000	0.30564	0.655000	0.94253	ACG	PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253953		0.433	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	-	0	87	0	C	NM_003736		140768647	1	tier1	-	no_errors	ENST00000519479	ensembl	human	known	74_37	missense	37.70	38	23	SNP	0.000	T	T	140768647	C	T	140768647	3	4	144	1	0	0	0	0	1	0	0	0	11604	536	19	1	1198	1	PCDHGB4	5	140768647	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	47883	140768647	40146613	128	36531											
PCDHGA8	9708	genome.wustl.edu	37	chr5	140773787	140773787	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacaacctgagaggagcCtccatcttttccttgactgc	10	10	9	12	0	1	3	0	2	1	2	3	6	3	4	4	1	4	0	4	1	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:140773787C>A	ENST00000398604.2	+	1	1407	c.1407C>A	c.(1405-1407)gcC>gcA	p.A469A	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	469	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)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGAGGAGCCTCCATCTTTT	0.562																																																	0													60	63	62					5																	140773787		2084	4222	6306	SO:0001819	synonymous_variant	0			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1407C>A	5.37:g.140773787C>A			A7MCZ4|O15039	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A469	ENST00000398604.2	37	c.1407	CCDS47291.1	5																																																																																			PCDHGA8	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000253767		0.562	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	-	0	112	0	C	NM_032088		140773787	1	tier1	-	no_errors	ENST00000398604	ensembl	human	known	74_37	silent	39.53	52	34	SNP	0.801	A	A	140773787	C	A	140773787	2	1	144	1	0	0	0	0	0	0	0	1	11599	668	24	3		3	PCDHGA8	5	140773787	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	5140	140773787	40141473	129	36532											
SPRY4	81848	genome.wustl.edu	37	chr5	141694439	141694439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gacatcctggtcacagcgggCgggcgtcggggccagctctg	5	6	17	13	4	2	0	1	0	1	0	4	1	3	0	2	5	2	1	2	5	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:141694439C>T	ENST00000434127.2	-	2	478	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Missense_Mutation_p.A102T	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	79					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.A102T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACAGCGGGCGGGCGTCGGG	0.657									Testicular Cancer, Familial Clustering of																																								1	Substitution - Missense(1)	large_intestine(1)											27	34	32					5																	141694439		2200	4297	6497	SO:0001583	missense	0	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.235G>A	5.37:g.141694439C>T	ENSP00000399468:p.Ala79Thr		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	pfam_Sprouty	p.A102T	ENST00000434127.2	37	c.304	CCDS47296.1	5	.	.	.	.	.	.	.	.	.	.	C	5.663	0.306885	0.10733	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661	T;T	0.63580	-0.05;-0.04	5.77	1.58	0.23477	.	0.687272	0.14744	N	0.301020	T	0.31575	0.0801	N	0.08118	0	0.21105	N	0.999789	B;B	0.22003	0.063;0.006	B;B	0.12156	0.007;0.002	T	0.16928	-1.0386	10	0.09590	T	0.72	-17.321	4.2449	0.10667	0.2178:0.4614:0.2244:0.0964	.	79;79	Q9C004-2;Q9C004	.;SPY4_HUMAN	T	102;79;79	ENSP00000344967:A102T;ENSP00000399468:A79T	ENSP00000344967:A102T	A	-	1	0	SPRY4	141674623	0.001000	0.12720	0.452000	0.26994	0.562000	0.35680	-0.102000	0.10956	0.740000	0.32651	-0.314000	0.08810	GCC	SPRY4	-	NULL	ENSG00000187678		0.657	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY4	HGNC	protein_coding	OTTHUMT00000370652.1		0	61	0	C			141694439	-1			no_errors	ENST00000344120	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.099	T	T	141694439	C	T	141694439	3	4	144	1	0	0	0	0	1	0	0	0	15155	768	27	1	668	1	SPRY4	5	141694439	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	920652	141694439	39220821	130	36533											
PCYOX1L	78991	genome.wustl.edu	37	chr5	148745521	148745521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaggatctataagtaccagGcccacggctatgccttctcg	9	10	9	13	2	2	0	0	0	2	0	3	1	2	1	3	3	2	2	3	3	5	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:148745521G>T	ENST00000274569.4	+	4	549	c.487G>T	c.(487-489)Gcc>Tcc	p.A163S	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.A73S	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	163					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGTACCAGGCCCACGGCTA	0.562																																					Ovarian(62;1136 1477 27277 27495)												0													80	81	81					5																	148745521		2203	4300	6503	SO:0001583	missense	0				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.487G>T	5.37:g.148745521G>T	ENSP00000274569:p.Ala163Ser		Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	p.A163S	ENST00000274569.4	37	c.487	CCDS4296.1	5	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778578	0.31502	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.13089	2.62;2.62	5.27	5.27	0.74061	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.19005	0.0456	L	0.35593	1.075	0.54753	D	0.999981	B;P	0.48911	0.339;0.917	B;P	0.54759	0.16;0.76	T	0.01004	-1.1484	10	0.05351	T	0.99	-26.3546	18.8941	0.92416	0.0:0.0:1.0:0.0	.	73;163	E7EVZ5;Q8NBM8	.;PCYXL_HUMAN	S	163;73	ENSP00000274569:A163S;ENSP00000428512:A73S	ENSP00000274569:A163S	A	+	1	0	PCYOX1L	148725714	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.604000	0.61112	2.483000	0.83821	0.561000	0.74099	GCC	PCYOX1L	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	ENSG00000145882		0.562	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1L	HGNC	protein_coding	OTTHUMT00000252331.2	-	0	57	0	G	NM_024028		148745521	1	tier1	-	no_errors	ENST00000274569	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	148745521	G	T	148745521	3	4	144	1	0	0	0	0	1	0	0	0	11648	1203	42	3	501	3	PCYOX1L	5	148745521	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	7051082	148745521	32169739	131	36534											
ATP10B	23120	genome.wustl.edu	37	chr5	160047770	160047770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcacctccactgcacacaGatgcatcatctctctcatcc	10	10	4	17	0	4	1	3	0	2	1	8	1	6	1	3	0	2	2	3	0	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr5:160047770G>T	ENST00000327245.5	-	15	2846	c.2000C>A	c.(1999-2001)tCt>tAt	p.S667Y	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	667					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)			ACTGCACACAGATGCATCATC	0.587																																																	0													67	70	69					5																	160047770		2170	4272	6442	SO:0001583	missense	0			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.2000C>A	5.37:g.160047770G>T	ENSP00000313600:p.Ser667Tyr		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.S667Y	ENST00000327245.5	37	c.2000	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	G	1.025	-0.683508	0.03353	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.86432	-2.12;-2.12	5.36	5.36	0.76844	HAD-like domain (1);	0.317848	0.30979	N	0.008498	T	0.81969	0.4935	N	0.25647	0.755	0.21184	N	0.999767	P;B	0.43788	0.817;0.077	B;B	0.41988	0.372;0.018	T	0.74506	-0.3643	9	.	.	.	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	275;667	Q2YDW8;O94823	.;AT10B_HUMAN	Y	667;275	ENSP00000313600:S667Y;ENSP00000431081:S275Y	.	S	-	2	0	ATP10B	159980348	1.000000	0.71417	0.536000	0.28039	0.021000	0.10359	5.996000	0.70639	2.523000	0.85059	0.655000	0.94253	TCT	ATP10B	-	superfamily_HAD-like_dom	ENSG00000118322		0.587	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1		0	35	0	G	NM_025153		160047770	-1			no_errors	ENST00000327245	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.373	T	T	160047770	G	T	160047770	3	4	144	1	0	0	0	0	1	0	0	0	1118	942	33	3	2433	3	ATP10B	5	160047770	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	11302249	160047770	20867490	132	36535											
BTN2A1	11120	genome.wustl.edu	37	chr6	26466201	26466201	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaacttcaagaagaattgCgtaagtttagcctttcctta	14	13	7	7	1	1	3	1	0	0	3	2	3	2	3	2	0	3	2	2	0	7	7	rs552017766		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:26466201C>T	ENST00000312541.5	+	6	1203	c.955C>T	c.(955-957)Cga>Tga	p.R319*	BTN2A1_ENST00000469185.1_Splice_Site_p.R319*|BTN2A1_ENST00000429381.1_Splice_Site_p.R319*|BTN2A1_ENST00000541522.1_Splice_Site_p.R258*	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	319	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.R319*(1)|p.R305*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						AGAAGAATTGCGTAAGTTTAG	0.373																																																	2	Substitution - Nonsense(2)	endometrium(2)											203	183	190					6																	26466201		2203	4300	6503	SO:0001630	splice_region_variant	0			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.955+1C>T	6.37:g.26466201C>T			B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.R319*	ENST00000312541.5	37	c.955	CCDS4613.1	6	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541175	0.65085	.	.	ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	.	.	.	3.84	-2.23	0.06930	.	1.164090	0.06577	N	0.749545	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	2.4458	0.04506	0.4684:0.2767:0.1535:0.1013	.	.	.	.	X	319;258;319;305;319	.	ENSP00000265424:R305X	R	+	1	2	BTN2A1	26574180	0.092000	0.21681	0.920000	0.36463	0.027000	0.11550	-0.333000	0.07894	-0.245000	0.09625	-0.448000	0.05591	CGA	BTN2A1	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000112763		0.373	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A1	HGNC	protein_coding	OTTHUMT00000040122.2	-	0	81	0	C	NM_007049	Nonsense_Mutation	26466201	1	tier1	-	no_errors	ENST00000312541	ensembl	human	known	74_37	nonsense	39.66	70	46	SNP	0.869	T	T	26466201	C	T	26466201	5	4	144	1	0	0	0	0	0	0	1	0	1564	782	27	1	973	1	BTN2A1	6	26466201	Splice_Site	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09		26466201	144648866	133	36536											
PGBD1	84547	genome.wustl.edu	37	chr6	28269344	28269344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaattggctataaaatttgGtgtggtacaaccacacaggg	14	10	11	6	0	0	1	0	0	0	1	0	1	0	1	1	4	2	2	1	4	6	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:28269344G>T	ENST00000405948.2	+	7	2133	c.1713G>T	c.(1711-1713)tgG>tgT	p.W571C	PGBD1_ENST00000259883.3_Missense_Mutation_p.W571C	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	571						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						ATAAAATTTGGTGTGGTACAA	0.393																																																	0													77	77	77					6																	28269344		2203	4300	6503	SO:0001583	missense	0			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.1713G>T	6.37:g.28269344G>T	ENSP00000385213:p.Trp571Cys		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN	p.W571C	ENST00000405948.2	37	c.1713	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957910	0.53400	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.19105	2.17;2.17	4.66	4.66	0.58398	.	0.000000	0.52532	D	0.000063	T	0.35941	0.0949	M	0.73962	2.25	0.58432	D	0.999993	P	0.52316	0.952	D	0.65773	0.938	T	0.10683	-1.0619	10	0.87932	D	0	-13.6362	13.256	0.60079	0.0:0.0:1.0:0.0	.	571	Q96JS3	PGBD1_HUMAN	C	571	ENSP00000385213:W571C;ENSP00000259883:W571C	ENSP00000259883:W571C	W	+	3	0	PGBD1	28377323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.127000	0.64727	2.581000	0.87130	0.655000	0.94253	TGG	PGBD1	-	NULL	ENSG00000137338		0.393	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	-	0	29	0	G			28269344	1	tier1	-	no_errors	ENST00000259883	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	28269344	G	T	28269344	3	4	144	1	0	0	0	0	1	0	0	0	11819	1270	44	3	1735	3	PGBD1	6	28269344	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1803143	28269344	142845723	134	36537											
BAT2	7916	genome.wustl.edu	37	chr6	31595606	31595606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgaggcatggcggcagcGacgaaagcagtcgtcatctg	10	6	16	9	4	2	1	1	1	1	0	3	4	2	2	0	4	2	3	0	4	1	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:31595606G>A	ENST00000376033.2	+	12	1589	c.1355G>A	c.(1354-1356)cGa>cAa	p.R452Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R452Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	452	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGGCGGCAGCGACGAAAGCAG	0.642																																																	0													53	61	58					6																	31595606		1509	2708	4217	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1355G>A	6.37:g.31595606G>A	ENSP00000365201:p.Arg452Gln		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.R452Q	ENST00000376033.2	37	c.1355	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108683	0.56291	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.15487	2.42;2.42	4.38	4.38	0.52667	.	0.000000	0.44902	D	0.000404	T	0.31136	0.0787	M	0.64997	1.995	0.53688	D	0.999976	D	0.89917	1.0	D	0.76575	0.988	T	0.06092	-1.0846	10	0.87932	D	0	-11.8439	16.2187	0.82244	0.0:0.0:1.0:0.0	.	452	P48634	PRC2A_HUMAN	Q	452;441;452;452	ENSP00000365175:R452Q;ENSP00000365201:R452Q	ENSP00000365175:R452Q	R	+	2	0	PRRC2A	31703585	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.090000	0.76916	2.453000	0.82957	0.561000	0.74099	CGA	PRRC2A	-	NULL	ENSG00000204469		0.642	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	-	0	103	0	G	NM_080686		31595606	1	tier1	-	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	13.77	118	19	SNP	1.000	A	A	31595606	G	A	31595606	3	1	144	1	0	0	0	0	1	0	0	0	1320	1058	37	1	1397	1	BAT2	6	31595606	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3326262	31595606	139519461	135	36538											
TNXB	7148	genome.wustl.edu	37	chr6	32036806	32036806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtcaccatccaggagaGatgcagggtgtgtgacgtgg	9	8	15	9	1	2	2	2	1	0	1	3	4	3	3	2	3	1	1	2	3	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:32036806G>T	ENST00000375244.3	-	16	5896	c.5695C>A	c.(5695-5697)Ctc>Atc	p.L1899I	TNXB_ENST00000375247.2_Missense_Mutation_p.L1899I			P22105	TENX_HUMAN	tenascin XB	1981	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATCCAGGAGAGATGCAGGGTG	0.582																																																	0													90	101	97					6																	32036806		1344	2597	3941	SO:0001583	missense	0			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.5695C>A	6.37:g.32036806G>T	ENSP00000364393:p.Leu1899Ile		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.L1899I	ENST00000375244.3	37	c.5695		6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973653	0.74246	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.61510	0.1;0.1	4.94	4.0	0.46444	.	0.000000	0.41001	D	0.000966	T	0.68265	0.2982	M	0.88377	2.95	0.24573	N	0.993913	D	0.76494	0.999	D	0.81914	0.995	T	0.59830	-0.7380	10	0.27785	T	0.31	.	11.6068	0.51037	0.0:0.0:0.8222:0.1778	.	1899	P22105-3	.	I	1899	ENSP00000364393:L1899I;ENSP00000364396:L1899I	ENSP00000364393:L1899I	L	-	1	0	TNXB	32144784	0.994000	0.37717	0.946000	0.38457	0.874000	0.50279	2.522000	0.45572	2.469000	0.83416	0.655000	0.94253	CTC	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	-	0	59	0	G	NM_019105		32036806	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.932	T	T	32036806	G	T	32036806	3	4	144	1	0	0	0	0	1	0	0	0	16393	942	33	3	9134	3	TNXB	6	32036806	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	441200	32036806	139078261	136	36539											
PNPLA1	285848	genome.wustl.edu	37	chr6	36270166	36270166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcaactgtgggggcacCtcaaacactgccccgaagtt	9	8	10	14	1	2	0	2	0	0	0	2	1	2	0	4	2	3	2	4	2	3	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:36270166C>A	ENST00000394571.2	+	6	1304	c.1304C>A	c.(1303-1305)cCt>cAt	p.P435H	PNPLA1_ENST00000312917.5_Missense_Mutation_p.P349H|PNPLA1_ENST00000388715.3_Missense_Mutation_p.P340H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	435	Pro-rich.				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						GTGGGGGCACCTCAAACACTG	0.592											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													123	121	121					6																	36270166		2203	4300	6503	SO:0001583	missense	0				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.1304C>A	6.37:g.36270166C>A	ENSP00000378072:p.Pro435His	861	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.P436H	ENST00000394571.2	37	c.1307	CCDS54997.1	6	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442245	0.43326	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.31510	1.67;1.67;1.49;1.49	5.4	-0.945	0.10388	.	2.172240	0.02086	N	0.052715	T	0.07234	0.0183	L	0.27053	0.805	0.09310	N	1	B;B	0.17038	0.005;0.02	B;B	0.17098	0.007;0.017	T	0.28106	-1.0054	10	0.66056	D	0.02	2.7331	1.9264	0.03318	0.1296:0.4598:0.1266:0.2841	.	435;349	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	H	340;349;436;435	ENSP00000373367:P340H;ENSP00000321116:P349H;ENSP00000391868:P436H;ENSP00000378072:P435H	ENSP00000321116:P349H	P	+	2	0	PNPLA1	36378144	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.030000	0.12308	-0.557000	0.06126	0.650000	0.86243	CCT	PNPLA1	-	NULL	ENSG00000180316		0.592	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA1	HGNC	protein_coding			0	42	0	C	NM_173676		36270166	1			no_errors	ENST00000457797	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.000	A	A	36270166	C	A	36270166	3	1	144	1	0	0	0	0	1	0	0	0	12203	681	24	3	1353	3	PNPLA1	6	36270166	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	4233360	36270166	134844901	137	36540											
DAAM2	23500	genome.wustl.edu	37	chr6	39846262	39846262	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagaaggaagagatgatgcgGacgctgaacaaaatgaagga	18	4	15	4	2	0	5	0	3	0	2	0	10	0	8	0	3	2	1	0	3	6	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:39846262G>A	ENST00000398904.2	+	13	1625	c.1443G>A	c.(1441-1443)cgG>cgA	p.R481R	DAAM2_ENST00000274867.4_Silent_p.R481R|DAAM2_ENST00000538976.1_Silent_p.R481R			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	481					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)					AGATGATGCGGACGCTGAACA	0.582																																																	0													44	50	48					6																	39846262		2038	4190	6228	SO:0001819	synonymous_variant	0			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.1443G>A	6.37:g.39846262G>A			G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.R481	ENST00000398904.2	37	c.1443	CCDS56426.1	6																																																																																			DAAM2	-	NULL	ENSG00000146122		0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	-	0	61	0	G			39846262	1	tier1	-	no_errors	ENST00000274867	ensembl	human	known	74_37	silent	17.07	68	14	SNP	1.000	A	A	39846262	G	A	39846262	2	1	144	1	0	0	0	0	0	0	0	1	4225	1161	41	3		3	DAAM2	6	39846262	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3576096	39846262	131268805	138	36541											
ENPP5	59084	genome.wustl.edu	37	chr6	46135472	46135472	+	Silent	SNP	T	T	C	0	1	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	ccaagatttatgggctctttTgacgtaaaccattcaataat	13	14	6	8	1	2	2	1	1	1	1	2	2	2	2	2	1	1	2	2	1	6	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:46135472T>C	ENST00000371383.2	-	3	788	c.528A>G	c.(526-528)tcA>tcG	p.S176S	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Silent_p.S176S					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TGGGCTCTTTTGACGTAAACC	0.418																																																	0													74	80	78					6																	46135472		2203	4300	6503	SO:0001819	synonymous_variant	0			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.528A>G	6.37:g.46135472T>C				Silent	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S176	ENST00000371383.2	37	c.528	CCDS4915.1	6																																																																																			ENPP5	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000112796		0.418	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP5	HGNC	protein_coding	OTTHUMT00000040779.2	-	0	23	0	T			46135472	-1	tier1	-	no_errors	ENST00000230565	ensembl	human	known	74_37	silent	24.07	41	13	SNP	0.839	C	C	46135472	T	C	46135472	2	2	144	1	0	0	0	0	0	0	0	1	5149	1799	63	4		4	ENPP5	6	46135472	Silent	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	6289210	46135472	124979595	139	36542											
BEND6	221336	genome.wustl.edu	37	chr6	56880028	56880028	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacatctgcatccaccctCtggagagcaacaaacaactc	13	8	5	15	0	3	1	0	0	3	1	5	2	4	1	2	1	6	2	2	1	4	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:56880028C>A	ENST00000370746.3	+	4	665	c.396C>A	c.(394-396)ctC>ctA	p.L132L	BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Silent_p.L34L|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	132					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						CATCCACCCTCTGGAGAGCAA	0.473																																																	0													129	128	128					6																	56880028		1942	4134	6076	SO:0001819	synonymous_variant	0			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.396C>A	6.37:g.56880028C>A			Q4G0W8|Q8N662|Q96NS6	Silent	SNP	pfam_BEN_domain	p.L132	ENST00000370746.3	37	c.396	CCDS43476.1	6																																																																																			BEND6	-	NULL	ENSG00000151917		0.473	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND6	HGNC	protein_coding	OTTHUMT00000041032.4	-	0	49	0	C	NM_152731		56880028	1	tier1	-	no_errors	ENST00000370746	ensembl	human	known	74_37	silent	20.16	102	26	SNP	1.000	A	A	56880028	C	A	56880028	2	1	144	1	0	0	0	0	0	0	0	1	1403	900	32	3		3	BEND6	6	56880028	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	10744556	56880028	114235039	140	36543											
BAG2	9532	genome.wustl.edu	37	chr6	57037568	57037568	+	Missense_Mutation	SNP	T	T	C	0	1	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	cctcctccatggctgaccgcTccagccgcctgctggagagc	5	7	11	18	2	0	2	0	1	0	1	3	3	3	2	7	2	3	3	7	2	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:57037568T>C	ENST00000370693.5	+	1	445	c.73T>C	c.(73-75)Tcc>Ccc	p.S25P	RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|BAG2_ENST00000545080.1_5'Flank|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000590164.1_RNA|RP11-203B9.4_ENST00000589394.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000609545.1_RNA|RP11-203B9.4_ENST00000585414.1_RNA|RP11-203B9.4_ENST00000589312.1_RNA|RP11-203B9.4_ENST00000592785.1_RNA|RP11-203B9.4_ENST00000588819.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586234.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	25					protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGCTGACCGCTCCAGCCGCCT	0.697																																																	0													20	18	19					6																	57037568		2200	4296	6496	SO:0001583	missense	0			AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.73T>C	6.37:g.57037568T>C	ENSP00000359727:p.Ser25Pro		B4DXE2|Q08AS9|Q6FID0	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.S25P	ENST00000370693.5	37	c.73	CCDS4961.1	6	.	.	.	.	.	.	.	.	.	.	T	25.1	4.605081	0.87157	.	.	ENSG00000112208	ENST00000370693	.	.	.	4.89	2.49	0.30216	.	0.112007	0.64402	N	0.000006	T	0.49932	0.1586	M	0.69823	2.125	0.80722	D	1	D	0.56521	0.976	P	0.51016	0.656	T	0.53753	-0.8394	9	0.66056	D	0.02	-6.6833	8.8188	0.35011	0.0:0.1556:0.0:0.8444	.	25	O95816	BAG2_HUMAN	P	25	.	ENSP00000359727:S25P	S	+	1	0	BAG2	57145527	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.622000	0.67750	0.232000	0.21100	0.383000	0.25322	TCC	BAG2	-	NULL	ENSG00000112208		0.697	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG2	HGNC	protein_coding	OTTHUMT00000041044.2	-	0	111	0	T			57037568	1	tier1	-	no_errors	ENST00000370693	ensembl	human	known	74_37	missense	56.18	39	50	SNP	1.000	C	C	57037568	T	C	57037568	3	2	144	1	0	0	0	0	1	0	0	0	1288	1551	54	4	75	4	BAG2	6	57037568	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	157540	57037568	114077499	141	36544											
FAM46A	55603	genome.wustl.edu	37	chr6	82459466	82459466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tgctggcacgtgaatactggCtgaacctgtgcaatgtagta	10	11	12	8	1	0	2	0	2	0	0	0	2	0	2	1	2	4	6	1	2	6	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:82459466C>A	ENST00000320172.6	-	3	1589	c.1275G>T	c.(1273-1275)caG>caT	p.Q425H	FAM46A_ENST00000369756.3_Missense_Mutation_p.Q506H|FAM46A_ENST00000369754.3_Missense_Mutation_p.Q444H	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	425					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)		TGAATACTGGCTGAACCTGTG	0.438																																																	0													145	129	135					6																	82459466		2203	4300	6503	SO:0001583	missense	0			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.1275G>T	6.37:g.82459466C>A	ENSP00000318298:p.Gln425His		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	pfam_DUF1693	p.Q444H	ENST00000320172.6	37	c.1332	CCDS34489.1	6	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030344	0.54790	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.24908	1.83;1.84;1.83	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.31136	0.0787	L	0.52364	1.645	0.80722	D	1	D;D	0.64830	0.99;0.994	D;D	0.78314	0.979;0.991	T	0.02307	-1.1179	10	0.15499	T	0.54	-17.187	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	425;444	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	H	444;425;506	ENSP00000358769:Q444H;ENSP00000318298:Q425H;ENSP00000358771:Q506H	ENSP00000318298:Q425H	Q	-	3	2	FAM46A	82516185	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.835000	0.55805	2.941000	0.99782	0.655000	0.94253	CAG	FAM46A	-	NULL	ENSG00000112773		0.438	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM46A	HGNC	protein_coding	OTTHUMT00000041331.1		0	84	0	C			82459466	-1			no_errors	ENST00000369754	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	82459466	C	A	82459466	3	1	144	1	0	0	0	0	1	0	0	0	5587	796	28	3	57	3	FAM46A	6	82459466	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	25421898	82459466	88655601	142	36545											
MAP3K7	6885	genome.wustl.edu	37	chr6	91266319	91266319	+	Silent	SNP	T	T	A	0	1	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	aaatcacaaatttttagaacTgtcccccctgcaaccagcag	14	9	5	13	0	1	1	1	0	0	1	2	1	2	1	4	0	4	2	4	0	5	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:91266319T>A	ENST00000369329.3	-	6	668	c.507A>T	c.(505-507)acA>acT	p.T169T	MAP3K7_ENST00000369325.3_Silent_p.T169T|MAP3K7_ENST00000369332.3_Silent_p.T169T|MAP3K7_ENST00000369327.3_Silent_p.T169T	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	169	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)		TTTTTAGAACTGTCCCCCCTG	0.378																																																	0													99	93	95					6																	91266319		2203	4300	6503	SO:0001819	synonymous_variant	0			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.507A>T	6.37:g.91266319T>A			B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Silent	SNP	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T169	ENST00000369329.3	37	c.507	CCDS5028.1	6																																																																																			MAP3K7	-	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135341		0.378	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1	-	0	108	0	T	NM_145331		91266319	-1	tier1	-	no_errors	ENST00000369329	ensembl	human	known	74_37	silent	30.25	83	36	SNP	0.995	A	A	91266319	T	A	91266319	2	1	144	1	0	0	0	0	0	0	0	1	9293	1567	55	5		5	MAP3K7	6	91266319	Silent	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	8806853	91266319	79848748	143	36546											
KLHL32	114792	genome.wustl.edu	37	chr6	97561851	97561851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	accaccagagcatctatgcaCagcctgtctggcagactcgc	10	7	9	15	1	2	2	0	0	2	2	3	2	2	2	3	1	3	3	3	1	1	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:97561851C>A	ENST00000369261.4	+	7	1183	c.820C>A	c.(820-822)Cag>Aag	p.Q274K	KLHL32_ENST00000536676.1_Missense_Mutation_p.Q238K|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.Q205K	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	274										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CATCTATGCACAGCCTGTCTG	0.537																																																	0													103	86	92					6																	97561851		2203	4300	6503	SO:0001583	missense	0			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.820C>A	6.37:g.97561851C>A	ENSP00000358265:p.Gln274Lys		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Q274K	ENST00000369261.4	37	c.820	CCDS5038.1	6	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151307	0.57151	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.74526	-0.79;-0.83;-0.85	5.19	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	M	0.67700	2.07	0.80722	D	1	P;B;D;P	0.62365	0.948;0.255;0.991;0.495	P;B;P;B	0.52514	0.598;0.104;0.701;0.098	T	0.76105	-0.3081	10	0.52906	T	0.07	.	13.7698	0.63018	0.0:0.9262:0.0:0.0738	.	205;238;274;274	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	K	274;238;205	ENSP00000358265:Q274K;ENSP00000440382:Q238K;ENSP00000441527:Q205K	ENSP00000358265:Q274K	Q	+	1	0	KLHL32	97668572	1.000000	0.71417	0.979000	0.43373	0.803000	0.45373	7.294000	0.78760	1.406000	0.46857	0.591000	0.81541	CAG	KLHL32	-	pirsf_Kelch-like_gigaxonin	ENSG00000186231		0.537	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL32	HGNC	protein_coding	OTTHUMT00000041570.1		0	42	0	C	NM_052904		97561851	1			no_errors	ENST00000369261	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	97561851	C	A	97561851	3	1	144	1	0	0	0	0	1	0	0	0	8413	479	17	3	842	3	KLHL32	6	97561851	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	6295532	97561851	73553216	144	36547											
FBXL4	26235	genome.wustl.edu	37	chr6	99353423	99353423	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatctagttttgcccagtAtggttgcagattgaggtgga	8	14	13	6	0	2	2	1	1	1	1	2	3	2	3	1	3	2	4	1	3	2	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:99353423A>G	ENST00000369244.2	-	6	1410	c.982T>C	c.(982-984)Tac>Cac	p.Y328H	FBXL4_ENST00000229971.1_Missense_Mutation_p.Y328H	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	328	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTTGCCCAGTATGGTTGCAGA	0.448																																																	0													193	172	179					6																	99353423		2203	4300	6503	SO:0001583	missense	0			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.982T>C	6.37:g.99353423A>G	ENSP00000358247:p.Tyr328His		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.Y328H	ENST00000369244.2	37	c.982	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422987	0.83559	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.55760	0.5;0.5	5.43	5.43	0.79202	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	M	0.82716	2.605	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.72659	-0.4226	10	0.52906	T	0.07	.	14.043	0.64689	1.0:0.0:0.0:0.0	.	328	Q9UKA2	FBXL4_HUMAN	H	328	ENSP00000358247:Y328H;ENSP00000229971:Y328H	ENSP00000229971:Y328H	Y	-	1	0	FBXL4	99460144	1.000000	0.71417	0.977000	0.42913	0.961000	0.63080	8.962000	0.93254	2.056000	0.61249	0.482000	0.46254	TAC	FBXL4	-	superfamily_F-box_dom,pfscan_F-box_dom	ENSG00000112234		0.448	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	-	0	46	0	A			99353423	-1	tier1	-	no_errors	ENST00000229971	ensembl	human	known	74_37	missense	34.92	41	22	SNP	0.999	G	G	99353423	A	G	99353423	3	3	144	1	0	0	0	0	1	0	0	0	5743	449	16	4	903	4	FBXL4	6	99353423	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	1791572	99353423	71761644	145	36548											
DCBLD1	285761	genome.wustl.edu	37	chr6	117859897	117859897	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctcctggccaagcccgacTtcaggaccaaggcccatcat	9	7	9	16	1	3	0	2	0	1	0	4	2	3	1	5	3	1	0	5	3	2	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:117859897T>G	ENST00000338728.5	+	8	995	c.875T>G	c.(874-876)cTt>cGt	p.L292R	DCBLD1_ENST00000368503.4_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.L292R|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	292	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CAAGCCCGACTTCAGGACCAA	0.517																																																	0													59	56	57					6																	117859897		2203	4300	6503	SO:0001583	missense	0			AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.875T>G	6.37:g.117859897T>G	ENSP00000342422:p.Leu292Arg		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB_dom,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB_dom,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.L292R	ENST00000338728.5	37	c.875		6	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257342	0.59321	.	.	ENSG00000164465	ENST00000296955;ENST00000338728	D;D	0.98701	-5.08;-5.08	4.17	1.63	0.23807	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.424932	0.23340	N	0.049258	D	0.98298	0.9436	H	0.96805	3.885	0.80722	D	1	P;B	0.35600	0.511;0.413	B;B	0.43225	0.412;0.219	D	0.97556	1.0095	10	0.87932	D	0	-6.0862	7.2645	0.26222	0.144:0.0:0.1507:0.7053	.	292;292	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	R	292	ENSP00000296955:L292R;ENSP00000342422:L292R	ENSP00000296955:L292R	L	+	2	0	DCBLD1	117966590	0.997000	0.39634	0.933000	0.37362	0.915000	0.54546	2.604000	0.46274	0.145000	0.18977	0.379000	0.24179	CTT	DCBLD1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164465		0.517	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	DCBLD1	HGNC	protein_coding	OTTHUMT00000041979.2	-	0	41	0	T	NM_173674		117859897	1	tier1	-	no_errors	ENST00000338728	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.951	G	G	117859897	T	G	117859897	3	3	144	1	0	0	0	0	1	0	0	0	4289	1609	56	4	905	4	DCBLD1	6	117859897	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	18506474	117859897	53255170	146	36549											
C6orf174	387104	genome.wustl.edu	37	chr6	127836128	127836128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatttcctgcagttgacagGcatcctcctcgaagaaagtg	10	10	10	11	1	0	2	0	1	0	1	4	3	3	2	3	1	1	4	3	1	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:127836128G>T	ENST00000525778.1	-	3	1911	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	SOGA3_ENST00000465909.2_Missense_Mutation_p.A389D|SOGA3_ENST00000481848.2_Missense_Mutation_p.A389D|SOGA3_ENST00000368268.2_Missense_Mutation_p.A389D|SOGA3_ENST00000556132.1_Missense_Mutation_p.A389D			Q5TF21	SOGA3_HUMAN	SOGA family member 3	389					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CAGTTGACAGGCATCCTCCTC	0.562																																																	0													196	197	197					6																	127836128		2124	4251	6375	SO:0001583	missense	0			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.1166C>A	6.37:g.127836128G>T	ENSP00000434570:p.Ala389Asp			Missense_Mutation	SNP	pfam_SOGA	p.A389D	ENST00000525778.1	37	c.1166	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.195349	0.94960	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.65	5.65	0.86999	.	0.109437	0.64402	D	0.000006	T	0.47691	0.1459	M	0.63843	1.955	0.80722	D	1	P	0.47302	0.893	P	0.51701	0.677	T	0.44528	-0.9322	10	0.54805	T	0.06	-15.5471	19.3474	0.94370	0.0:0.0:1.0:0.0	.	389	Q5TF21	CF174_HUMAN	D	389	ENSP00000451768:A389D;ENSP00000357251:A389D;ENSP00000434570:A389D;ENSP00000435559:A389D	ENSP00000435559:A389D	A	-	2	0	C6orf174	127877821	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.012000	0.88631	2.666000	0.90696	0.557000	0.71058	GCC	SOGA3	-	NULL	ENSG00000214338		0.562	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	-	0	70	0	G	NM_001012279		127836128	-1	tier1	-	no_errors	ENST00000368268	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	127836128	G	T	127836128	3	4	144	1	0	0	0	0	1	0	0	0	2352	1203	42	3	1697	3	C6orf174	6	127836128	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	9976231	127836128	43278939	147	36550											
PTPRK	5796	genome.wustl.edu	37	chr6	128304446	128304446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgacacaattgtaaatatCaacaacaccctctctttcag	14	13	3	11	0	3	1	2	1	1	0	4	1	3	1	1	0	2	1	1	0	6	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:128304446C>G	ENST00000368215.3	-	23	3324	c.3325G>C	c.(3325-3327)Gat>Cat	p.D1109H	PTPRK_ENST00000368213.5_Missense_Mutation_p.D1116H|PTPRK_ENST00000368210.3_Missense_Mutation_p.D1128H|PTPRK_ENST00000368207.3_Missense_Mutation_p.D1142H|PTPRK_ENST00000368226.4_Missense_Mutation_p.D1110H|PTPRK_ENST00000368227.3_Missense_Mutation_p.D1127H|PTPRK_ENST00000532331.1_Missense_Mutation_p.D1132H			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1109	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTGTAAATATCAACAACACCC	0.368																																																	0													94	81	85					6																	128304446		2203	4300	6503	SO:0001583	missense	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3325G>C	6.37:g.128304446C>G	ENSP00000357198:p.Asp1109His		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D1127H	ENST00000368215.3	37	c.3379		6	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695317	0.88830	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.095862	0.64402	D	0.000001	T	0.71108	0.3301	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;0.995	D;D;D;P	0.77557	0.99;0.99;0.913;0.859	T	0.82388	-0.0482	10	0.87932	D	0	.	18.3063	0.90182	0.0:1.0:0.0:0.0	.	1132;1116;1109;1110	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	H	1110;1127;1132;1116;1128;1109;1142	ENSP00000357209:D1110H;ENSP00000357210:D1127H;ENSP00000432973:D1132H;ENSP00000357196:D1116H;ENSP00000357193:D1128H;ENSP00000357198:D1109H;ENSP00000357190:D1142H	ENSP00000357190:D1142H	D	-	1	0	PTPRK	128346139	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.818000	0.86416	2.566000	0.86566	0.585000	0.79938	GAT	PTPRK	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000152894		0.368	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	-	0	38	0	C			128304446	-1	tier1	-	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	15.79	47	9	SNP	1.000	G	G	128304446	C	G	128304446	3	3	144	1	0	0	0	0	1	0	0	0	12850	826	29	5	1026	5	PTPRK	6	128304446	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	468318	128304446	42810621	148	36551											
SGK1	6446	genome.wustl.edu	37	chr6	134583168	134583168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggcatgtttgacacaagGaagactcgaagtctggctcc	11	8	11	11	1	1	2	0	1	1	1	3	4	2	3	2	3	0	3	2	3	3	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:134583168G>T	ENST00000367858.5	-	2	785	c.188C>A	c.(187-189)tCc>tAc	p.S63Y	SGK1_ENST00000524929.1_Missense_Mutation_p.S63Y	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0					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)		TTGACACAAGGAAGACTCGAA	0.532																																																	0													203	181	188					6																	134583168		1568	3582	5150	SO:0001583	missense	0			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	ENST00000367858.5:c.188C>A	6.37:g.134583168G>T	ENSP00000356832:p.Ser63Tyr		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.S63Y	ENST00000367858.5	37	c.188	CCDS47476.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.519239|2.519239	0.44866|0.44866	.|.	.|.	ENSG00000118515|ENSG00000118515	ENST00000460769|ENST00000367858;ENST00000461976;ENST00000524929	.|T	.|0.75938	.|-0.98	5.88|5.88	5.01|5.01	0.66863|0.66863	.|.	.|0.727288	.|0.12420	.|N	.|0.470560	T|T	0.59824|0.59824	0.2222|0.2222	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|P;B	.|0.47253	.|0.892;0.115	.|P;B	.|0.47251	.|0.542;0.055	T|T	0.59984|0.59984	-0.7351|-0.7351	5|10	.|0.87932	.|D	.|0	.|.	15.434|15.434	0.75129|0.75129	0.0:0.1382:0.8618:0.0|0.0:0.1382:0.8618:0.0	.|.	.|63;63	.|Q7Z3I4;O00141-2	.|.;.	L|Y	10|63;32;63	.|ENSP00000356832:S63Y	.|ENSP00000356832:S63Y	F|S	-|-	3|2	2|0	SGK1|SGK1	134624861|134624861	0.304000|0.304000	0.24472|0.24472	0.960000|0.960000	0.40013|0.40013	0.119000|0.119000	0.20118|0.20118	3.660000|3.660000	0.54496|0.54496	1.465000|1.465000	0.48006|0.48006	-0.176000|-0.176000	0.13171|0.13171	TTC|TCC	SGK1	-	NULL	ENSG00000118515		0.532	SGK1-001	KNOWN	basic|CCDS	protein_coding	SGK1	HGNC	protein_coding	OTTHUMT00000042304.2		0	45	0	G			134583168	-1			no_errors	ENST00000367858	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.284	T	T	134583168	G	T	134583168	3	4	144	1	0	0	0	0	1	0	0	0	14252	1174	41	3	1810	3	SGK1	6	134583168	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6278722	134583168	36531899	149	36552											
TNFAIP3	7128	genome.wustl.edu	37	chr6	138197171	138197171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcaggttccaatttcGcccctttgaaagtgggtgga	9	12	12	8	1	1	1	1	1	0	0	3	3	2	3	3	4	0	1	3	4	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:138197171G>T	ENST00000237289.4	+	5	739	c.673G>T	c.(673-675)Gcc>Tcc	p.A225S	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	225	Interaction with ubiquitin. {ECO:0000305}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTCCAATTTCGCCCCTTTGAA	0.433			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											91	95	94					6																	138197171		2203	4300	6503	SO:0001583	missense	0			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.673G>T	6.37:g.138197171G>T	ENSP00000237289:p.Ala225Ser		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.A225S	ENST00000237289.4	37	c.673	CCDS5187.1	6	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922908	0.33908	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000535332;ENST00000544646	T	0.29917	1.55	5.92	4.0	0.46444	Ovarian tumour, otubain (2);	0.210386	0.51477	N	0.000095	T	0.06826	0.0174	N	0.04705	-0.18	0.45515	D	0.998471	B	0.16802	0.019	B	0.20767	0.031	T	0.12656	-1.0539	10	0.24483	T	0.36	1.2307	13.0506	0.58952	0.0:0.0:0.5975:0.4025	.	225	P21580	TNAP3_HUMAN	S	225	ENSP00000237289:A225S	ENSP00000237289:A225S	A	+	1	0	TNFAIP3	138238864	0.997000	0.39634	0.938000	0.37757	0.980000	0.70556	2.290000	0.43531	1.461000	0.47929	0.650000	0.86243	GCC	TNFAIP3	-	pfam_OTU,pfscan_OTU	ENSG00000118503		0.433	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1		0	65	0	G			138197171	1			no_errors	ENST00000237289	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.937	T	T	138197171	G	T	138197171	3	4	144	1	0	0	0	0	1	0	0	0	16321	1087	38	2	687	2	TNFAIP3	6	138197171	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3614003	138197171	32917896	150	36553											
AIG1	51390	genome.wustl.edu	37	chr6	143654504	143654504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccagaatcatcttctttGggtctacaaccatcttaatg	11	13	7	10	0	5	1	1	0	4	1	5	2	5	1	2	1	3	0	2	1	4	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:143654504G>T	ENST00000275235.4	+	5	626	c.601G>T	c.(601-603)Ggg>Tgg	p.G201W	AIG1_ENST00000357847.4_Missense_Mutation_p.G201W|AIG1_ENST00000344492.5_Missense_Mutation_p.G149W			Q9NVV5	AIG1_HUMAN	androgen-induced 1	201						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		CATCTTCTTTGGGTCTACAAC	0.463																																																	0													169	163	165					6																	143654504		2203	4300	6503	SO:0001583	missense	0			AF153605	CCDS5198.1, CCDS69216.1	6q24.1	2008-02-05			ENSG00000146416	ENSG00000146416			21607	protein-coding gene	gene with protein product		608514				11266118	Standard	NM_001286587		Approved	dJ95L4.1, AIG-1, FLJ10485	uc003qjh.3	Q9NVV5	OTTHUMG00000015721	ENST00000275235.4:c.601G>T	6.37:g.143654504G>T	ENSP00000275235:p.Gly201Trp		B4DPX2|C9J569|Q5T2H2|Q6N047|Q7Z378|Q8TB14|Q9Y3A9|Q9Y5B4	Missense_Mutation	SNP	pfam_Far-17a_AIG1	p.G201W	ENST00000275235.4	37	c.601		6	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274460	0.59649	.	.	ENSG00000146416	ENST00000419072;ENST00000357847;ENST00000344492;ENST00000275235;ENST00000458219	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.46	4.57	0.56435	.	0.895855	0.09993	N	0.729496	T	0.30978	0.0782	L	0.52573	1.65	0.80722	D	1	D;D;D	0.64830	0.993;0.993;0.994	P;P;P	0.60345	0.8;0.8;0.873	T	0.04216	-1.0968	9	.	.	.	1.1334	8.8709	0.35316	0.0745:0.0:0.7754:0.1501	.	149;201;197	Q9NVV5-3;Q9NVV5-2;E7ENG8	.;.;.	W	197;201;149;201;113	ENSP00000350509:G201W;ENSP00000340090:G149W;ENSP00000275235:G201W;ENSP00000407817:G113W	.	G	+	1	0	AIG1	143696197	0.999000	0.42202	0.983000	0.44433	0.998000	0.95712	2.399000	0.44495	1.233000	0.43693	0.650000	0.86243	GGG	AIG1	-	pfam_Far-17a_AIG1	ENSG00000146416		0.463	AIG1-005	KNOWN	basic	protein_coding	AIG1	HGNC	protein_coding	OTTHUMT00000042510.1	-	0	64	0	G	NM_016108		143654504	1	tier1	-	no_errors	ENST00000275235	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.987	T	T	143654504	G	T	143654504	3	4	144	1	0	0	0	0	1	0	0	0	429	1348	47	3	619	3	AIG1	6	143654504	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	5457333	143654504	27460563	151	36554											
PEX3	8504	genome.wustl.edu	37	chr6	143780297	143780297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggctgcagaatacattgCccaagcacgacgacaatatc	14	6	10	11	2	0	1	0	0	0	1	1	4	0	2	1	2	4	3	1	2	5	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:143780297C>T	ENST00000367591.4	+	2	212	c.149C>T	c.(148-150)gCc>gTc	p.A50V		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	50					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)		GAATACATTGCCCAAGCACGA	0.358																																																	0													123	118	120					6																	143780297		2203	4300	6503	SO:0001583	missense	0			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.149C>T	6.37:g.143780297C>T	ENSP00000356563:p.Ala50Val		Q6FGP5	Missense_Mutation	SNP	pfam_Peroxin-3	p.A50V	ENST00000367591.4	37	c.149	CCDS5199.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.118970	0.94385	.	.	ENSG00000034693	ENST00000367591	T	0.49720	0.77	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	L	0.60845	1.875	0.80722	D	1	D;D	0.71674	0.975;0.998	P;D	0.67900	0.447;0.954	T	0.45906	-0.9229	10	0.27785	T	0.31	-12.2468	19.9658	0.97266	0.0:1.0:0.0:0.0	.	50;50	B4DV31;P56589	.;PEX3_HUMAN	V	50	ENSP00000356563:A50V	ENSP00000356563:A50V	A	+	2	0	PEX3	143821990	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.429000	0.80309	2.721000	0.93114	0.591000	0.81541	GCC	PEX3	-	pfam_Peroxin-3	ENSG00000034693		0.358	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX3	HGNC	protein_coding	OTTHUMT00000042525.1		0	41	0	C			143780297	1			no_errors	ENST00000367591	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	143780297	C	T	143780297	3	4	144	1	0	0	0	0	1	0	0	0	11786	739	26	3	155	3	PEX3	6	143780297	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	125793	143780297	27334770	152	36555											
GRM1	2911	genome.wustl.edu	37	chr6	146720166	146720166	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacctccagcgcctcttggTtggcctctcctctgcgatgt	3	13	9	16	2	3	0	0	0	3	0	5	1	4	0	5	2	3	1	5	2	1	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:146720166T>G	ENST00000282753.1	+	7	2226	c.1991T>G	c.(1990-1992)gTt>gGt	p.V664G	GRM1_ENST00000355289.4_Missense_Mutation_p.V664G|GRM1_ENST00000492807.2_Missense_Mutation_p.V664G|GRM1_ENST00000392299.2_Missense_Mutation_p.V664G|GRM1_ENST00000361719.2_Missense_Mutation_p.V664G|GRM1_ENST00000507907.1_Missense_Mutation_p.V664G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	664					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)		CGCCTCTTGGTTGGCCTCTCC	0.517																																																	0													328	302	311					6																	146720166		2203	4300	6503	SO:0001583	missense	0			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.1991T>G	6.37:g.146720166T>G	ENSP00000282753:p.Val664Gly		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.V664G	ENST00000282753.1	37	c.1991	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719118	0.68844	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.51	4.34	0.51931	GPCR, family 3, C-terminal (2);	0.053373	0.85682	D	0.000000	D	0.88994	0.6589	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	0.973;1.0;0.973	P;D;P	0.91635	0.69;0.999;0.786	D	0.90134	0.4208	10	0.87932	D	0	.	11.2249	0.48877	0.0:0.0722:0.0:0.9278	.	664;664;664	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	G	664	ENSP00000354896:V664G;ENSP00000376119:V664G;ENSP00000424095:V664G;ENSP00000282753:V664G;ENSP00000347437:V664G;ENSP00000425599:V664G	ENSP00000282753:V664G	V	+	2	0	GRM1	146761859	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	8.040000	0.89188	0.931000	0.37242	0.477000	0.44152	GTT	GRM1	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt	ENSG00000152822		0.517	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0	42	0	T	NM_000838		146720166	1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	G	G	146720166	T	G	146720166	3	3	144	1	0	0	0	0	1	0	0	0	6823	1725	60	4	2017	4	GRM1	6	146720166	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	2939869	146720166	24394901	153	36556											
TIAM2	26230	genome.wustl.edu	37	chr6	155486407	155486407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacattaggtatgttctaGagatgactctgctctccgga	9	15	9	8	1	3	2	0	1	3	1	4	4	3	3	1	2	2	3	1	2	4	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:155486407G>T	ENST00000461783.3	+	11	3498	c.2225G>T	c.(2224-2226)aGa>aTa	p.R742I	TIAM2_ENST00000360366.4_Missense_Mutation_p.R742I|TIAM2_ENST00000318981.5_Missense_Mutation_p.R742I|TIAM2_ENST00000529824.2_Missense_Mutation_p.R742I|TIAM2_ENST00000456144.1_Missense_Mutation_p.R742I|TIAM2_ENST00000367174.2_Missense_Mutation_p.R94I|TIAM2_ENST00000528391.2_Missense_Mutation_p.R54I|TIAM2_ENST00000456877.2_Missense_Mutation_p.R54I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	742					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)		GTATGTTCTAGAGATGACTCT	0.408																																																	0													65	65	65					6																	155486407		2203	4300	6503	SO:0001583	missense	0				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.2225G>T	6.37:g.155486407G>T	ENSP00000437188:p.Arg742Ile		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.R742I	ENST00000461783.3	37	c.2225	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496962	0.85069	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.38722	1.27;1.3;1.38;1.27;1.12;1.45;1.38;1.32;1.29	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.972;0.999;0.999;0.997	T	0.62746	-0.6789	10	0.87932	D	0	.	14.7456	0.69488	0.0:0.1443:0.8557:0.0	.	54;742;742;742	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	I	742;988;742;742;742;94;742;742;54;54	ENSP00000437188:R742I;ENSP00000434901:R742I;ENSP00000407746:R742I;ENSP00000327315:R742I;ENSP00000356142:R94I;ENSP00000353528:R742I;ENSP00000433348:R742I;ENSP00000407183:R54I;ENSP00000435335:R54I	ENSP00000327315:R742I	R	+	2	0	TIAM2	155528099	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	7.100000	0.76989	2.526000	0.85167	0.655000	0.94253	AGA	TIAM2	-	NULL	ENSG00000146426		0.408	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2		0	54	0	G	NM_012454		155486407	1			no_errors	ENST00000456144	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	155486407	G	T	155486407	3	4	144	1	0	0	0	0	1	0	0	0	15938	942	33	3	2247	3	TIAM2	6	155486407	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	8766241	155486407	15628660	154	36557											
TIAM2	26230	genome.wustl.edu	37	chr6	155486490	155486490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatattttcttcgttaaaaGggctggacacactggccaga	12	11	10	8	1	1	1	0	0	1	1	2	3	1	2	1	3	0	2	1	3	4	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:155486490G>T	ENST00000461783.3	+	11	3581	c.2308G>T	c.(2308-2310)Ggg>Tgg	p.G770W	TIAM2_ENST00000360366.4_Missense_Mutation_p.G770W|TIAM2_ENST00000318981.5_Missense_Mutation_p.G770W|TIAM2_ENST00000529824.2_Missense_Mutation_p.G770W|TIAM2_ENST00000456144.1_Missense_Mutation_p.G770W|TIAM2_ENST00000367174.2_Missense_Mutation_p.G122W|TIAM2_ENST00000528391.2_Missense_Mutation_p.G82W|TIAM2_ENST00000456877.2_Missense_Mutation_p.G82W			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	770					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)		TTCGTTAAAAGGGCTGGACAC	0.458																																																	0													76	73	74					6																	155486490		2203	4300	6503	SO:0001583	missense	0				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.2308G>T	6.37:g.155486490G>T	ENSP00000437188:p.Gly770Trp		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.G770W	ENST00000461783.3	37	c.2308	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325571	0.81580	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.19532	2.47;2.44;2.54;2.47;2.14;2.8;2.54;2.6;2.19	5.21	4.33	0.51752	.	0.057553	0.64402	D	0.000001	T	0.33962	0.0881	M	0.68593	2.085	0.47698	D	0.999492	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	T	0.24977	-1.0145	10	0.87932	D	0	.	14.0405	0.64672	0.074:0.0:0.926:0.0	.	82;770;770;770	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	W	770;1016;770;770;770;122;770;770;82;82	ENSP00000437188:G770W;ENSP00000434901:G770W;ENSP00000407746:G770W;ENSP00000327315:G770W;ENSP00000356142:G122W;ENSP00000353528:G770W;ENSP00000433348:G770W;ENSP00000407183:G82W;ENSP00000435335:G82W	ENSP00000327315:G770W	G	+	1	0	TIAM2	155528182	1.000000	0.71417	0.972000	0.41901	0.990000	0.78478	7.194000	0.77789	1.164000	0.42652	0.655000	0.94253	GGG	TIAM2	-	NULL	ENSG00000146426		0.458	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	-	0	64	0	G	NM_012454		155486490	1	tier1	-	no_errors	ENST00000456144	ensembl	human	known	74_37	missense	5.75	82	5	SNP	1.000	T	T	155486490	G	T	155486490	3	4	144	1	0	0	0	0	1	0	0	0	15938	1000	35	3	2330	3	TIAM2	6	155486490	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	83	155486490	15628577	155	36558											
IGF2R	3482	genome.wustl.edu	37	chr6	160494982	160494982	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccggagccgctgtgtgcaAagttcctattgatggtcccc	6	11	12	12	2	0	1	0	1	0	0	2	2	2	2	5	2	3	3	5	2	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:160494982A>T	ENST00000356956.1	+	35	5289	c.5141A>T	c.(5140-5142)aAa>aTa	p.K1714I		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1714					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)	GCTGTGTGCAAAGTTCCTATT	0.463																																																	0													68	62	64					6																	160494982		2203	4300	6503	SO:0001583	missense	0			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.5141A>T	6.37:g.160494982A>T	ENSP00000349437:p.Lys1714Ile		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.K1714I	ENST00000356956.1	37	c.5141	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874913	0.72180	.	.	ENSG00000197081	ENST00000356956	T	0.11277	2.79	5.58	5.58	0.84498	Mannose-6-phosphate receptor, binding (1);	0.109134	0.64402	D	0.000015	T	0.12433	0.0302	L	0.52364	1.645	0.43740	D	0.996236	B	0.31435	0.323	P	0.50617	0.646	T	0.08868	-1.0701	10	0.42905	T	0.14	-7.1058	9.3957	0.38401	0.7307:0.0:0.0:0.2693	.	1714	P11717	MPRI_HUMAN	I	1714	ENSP00000349437:K1714I	ENSP00000349437:K1714I	K	+	2	0	IGF2R	160414972	1.000000	0.71417	0.971000	0.41717	0.755000	0.42902	5.257000	0.65473	2.135000	0.66039	0.533000	0.62120	AAA	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.463	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0	83	0	A	NM_000876		160494982	1	tier1	-	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	20.65	73	19	SNP	1.000	T	T	160494982	A	T	160494982	3	4	144	1	0	0	0	0	1	0	0	0	7603	14	1	5	5279	5	IGF2R	6	160494982	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	5008492	160494982	10620085	156	36559											
SMOC2	64094	genome.wustl.edu	37	chr6	169053815	169053815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgttgaatactgtgacGtgaataatgacaaatccatc	14	13	8	6	1	0	4	0	4	0	0	2	4	1	4	1	0	1	2	1	0	5	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:169053815G>A	ENST00000356284.2	+	11	1412	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	SMOC2_ENST00000354536.5_Missense_Mutation_p.V409M	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	398	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.V409M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		ATACTGTGACGTGAATAATGA	0.458																																																	1	Substitution - Missense(1)	lung(1)											124	117	119					6																	169053815		2203	4300	6503	SO:0001583	missense	0			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.1192G>A	6.37:g.169053815G>A	ENSP00000348630:p.Val398Met		B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1	p.V409M	ENST00000356284.2	37	c.1225	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	G	7.649	0.682463	0.14907	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793;ENST00000392101;ENST00000538593;ENST00000417208	T;T	0.36520	1.25;1.25	4.92	4.03	0.46877	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.418347	0.24215	N	0.040490	T	0.11965	0.0291	L	0.43152	1.355	0.31740	N	0.635896	B;B	0.31318	0.319;0.076	B;B	0.26094	0.066;0.03	T	0.08953	-1.0697	10	0.34782	T	0.22	-4.0834	7.5074	0.27553	0.0909:0.1675:0.7417:0.0	.	398;409	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	M	398;409;398;75;75;18	ENSP00000348630:V398M;ENSP00000346537:V409M	ENSP00000346537:V409M	V	+	1	0	SMOC2	168795740	1.000000	0.71417	0.055000	0.19348	0.172000	0.22775	1.981000	0.40628	1.021000	0.39600	0.655000	0.94253	GTG	SMOC2	-	pfam_SPARC/Testican_Ca-bd-dom,pfscan_EF_hand_dom	ENSG00000112562		0.458	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	HGNC	protein_coding	OTTHUMT00000043201.1	-	0	112	0	G			169053815	1	tier1	-	no_errors	ENST00000354536	ensembl	human	known	74_37	missense	31.36	81	37	SNP	0.998	A	A	169053815	G	A	169053815	3	1	144	1	0	0	0	0	1	0	0	0	14847	1145	40	1	1267	1	SMOC2	6	169053815	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	8558833	169053815	2061252	157	36560											
WDR27	253769	genome.wustl.edu	37	chr6	170052081	170052081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actatggaaaaccaggcgttGgtccttcatgacgttccgtg	9	11	11	10	3	1	1	1	1	0	0	3	2	3	2	3	3	1	2	3	3	3	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr6:170052081G>T	ENST00000448612.1	-	14	1535	c.1426C>A	c.(1426-1428)Caa>Aaa	p.Q476K	WDR27_ENST00000423258.1_Missense_Mutation_p.Q349K|WDR27_ENST00000333572.6_Missense_Mutation_p.Q476K|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	446						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ACCAGGCGTTGGTCCTTCATG	0.433																																																	0													109	104	105					6																	170052081		1979	4163	6142	SO:0001583	missense	0			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1426C>A	6.37:g.170052081G>T	ENSP00000416289:p.Gln476Lys		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q476K	ENST00000448612.1	37	c.1426	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	G	7.325	0.617704	0.14129	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.23348	2.0;2.25;1.91	4.59	2.66	0.31614	.	0.312440	0.25253	N	0.032002	T	0.09113	0.0225	L	0.58101	1.795	0.39273	D	0.964415	P;P;B	0.39022	0.506;0.655;0.314	B;B;B	0.38264	0.083;0.269;0.068	T	0.10543	-1.0625	10	0.06365	T	0.9	-3.3717	10.8694	0.46875	0.0:0.0:0.6851:0.3149	.	476;349;476	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	K	476;476;349	ENSP00000416289:Q476K;ENSP00000330265:Q476K;ENSP00000397869:Q349K	ENSP00000330265:Q476K	Q	-	1	0	WDR27	169794006	0.949000	0.32298	0.054000	0.19295	0.004000	0.04260	1.332000	0.33805	0.380000	0.24823	0.563000	0.77884	CAA	WDR27	-	NULL	ENSG00000184465		0.433	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	-	0	73	0	G	NM_182552		170052081	-1	tier1	-	no_errors	ENST00000448612	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.608	T	T	170052081	G	T	170052081	3	4	144	1	0	0	0	0	1	0	0	0	17333	1357	47	3	1195	3	WDR27	6	170052081	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	998266	170052081	1062986	158	36561											
RSPH10B	222967	genome.wustl.edu	37	chr7	5997557	5997557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgcccctctcccacCgcccggtgtactcttcgttg	3	11	9	18	3	2	0	0	0	2	0	4	1	2	1	6	2	2	2	6	2	1	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:5997557C>T	ENST00000405415.1	-	7	1147	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	RSPH10B_ENST00000441023.2_Missense_Mutation_p.R254Q|RSPH10B_ENST00000539903.1_Missense_Mutation_p.R20Q|RSPH10B_ENST00000404406.1_Missense_Mutation_p.R254Q|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000337579.3_Missense_Mutation_p.R254Q			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	254										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		CCTCTCCCACCGCCCGGTGTA	0.557																																																	0																																										SO:0001583	missense	0				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.761G>A	7.37:g.5997557C>T	ENSP00000385443:p.Arg254Gln		A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.R254Q	ENST00000405415.1	37	c.761	CCDS34598.1	7	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.541548	0.00934	.	.	ENSG00000155026	ENST00000539903;ENST00000405415;ENST00000404406;ENST00000337579;ENST00000354951;ENST00000441023	T;T;T;T;T	0.39997	1.05;1.08;1.08;1.08;1.08	3.87	2.55	0.30701	.	0.483859	0.21137	N	0.079554	T	0.05090	0.0136	N	0.00009	-3.085	0.24350	N	0.994925	B;B;B	0.11235	0.001;0.004;0.003	B;B;B	0.04013	0.0;0.001;0.0	T	0.41484	-0.9506	10	0.02654	T	1	.	8.2325	0.31605	0.0:0.1027:0.0:0.8973	.	20;254;113	B7Z298;P0C881;F5GXE3	.;R10B1_HUMAN;.	Q	20;254;254;254;113;254	ENSP00000445203:R20Q;ENSP00000385443:R254Q;ENSP00000384097:R254Q;ENSP00000338556:R254Q;ENSP00000400988:R254Q	ENSP00000338556:R254Q	R	-	2	0	RSPH10B	5964083	0.499000	0.26083	0.918000	0.36340	0.049000	0.14656	0.640000	0.24705	0.471000	0.27319	-0.702000	0.03669	CGG	RSPH10B	-	pfam_MORN,smart_MORN	ENSG00000155026		0.557	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B	HGNC	protein_coding	OTTHUMT00000325465.2	-	0	40	0	C	NM_173565		5997557	-1	tier1	-	no_errors	ENST00000337579	ensembl	human	known	74_37	missense	12.00	44	6	SNP	1.000	T	T	5997557	C	T	5997557	3	4	144	1	0	0	0	0	1	0	0	0	13748	652	23	1	1907	1	RSPH10B	7	5997557	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09		5997557	153141106	159	36562											
MACC1	346389	genome.wustl.edu	37	chr7	20199215	20199215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atggttaagcatgtgtggcgGatcaaggaaagcccttagag	12	9	14	6	1	1	1	1	0	0	1	1	3	1	3	1	4	2	2	1	4	4	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:20199215G>C	ENST00000400331.5	-	5	1077	c.769C>G	c.(769-771)Ccg>Gcg	p.P257A	MACC1_ENST00000589011.1_Missense_Mutation_p.P257A|MACC1_ENST00000332878.4_Missense_Mutation_p.P257A	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	257					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATGTGTGGCGGATCAAGGAAA	0.473																																																	0													100	95	97					7																	20199215		2203	4300	6503	SO:0001583	missense	0				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.769C>G	7.37:g.20199215G>C	ENSP00000383185:p.Pro257Ala		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_DEATH-like_dom	p.P257A	ENST00000400331.5	37	c.769	CCDS5369.1	7	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122761	0.20877	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.11930	2.73;2.73	5.47	4.53	0.55603	.	0.048745	0.85682	D	0.000000	T	0.13670	0.0331	L	0.52573	1.65	0.80722	D	1	B	0.29508	0.246	B	0.28305	0.088	T	0.02596	-1.1136	10	0.59425	D	0.04	-17.0994	10.1226	0.42630	0.0742:0.1389:0.7869:0.0	.	257	Q6ZN28	MACC1_HUMAN	A	257	ENSP00000383185:P257A;ENSP00000328410:P257A	ENSP00000328410:P257A	P	-	1	0	MACC1	20165740	1.000000	0.71417	0.986000	0.45419	0.439000	0.31926	6.714000	0.74692	2.569000	0.86673	0.585000	0.79938	CCG	MACC1	-	NULL	ENSG00000183742		0.473	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	-	0	34	0	G	NM_182762		20199215	-1	tier1	-	no_errors	ENST00000332878	ensembl	human	known	74_37	missense	26.98	46	17	SNP	1.000	C	C	20199215	G	C	20199215	3	2	144	1	0	0	0	0	1	0	0	0	9179	1174	41	5	1801	5	MACC1	7	20199215	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	14201658	20199215	138939448	160	36563											
EGFR	1956	genome.wustl.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:55233043G>A	ENST00000275493.2	+	15	1970	c.1793G>A	c.(1792-1794)gGa>gAa	p.G598E	EGFR_ENST00000342916.3_Missense_Mutation_p.G598E|EGFR_ENST00000454757.2_Missense_Mutation_p.G545E|EGFR_ENST00000442591.1_Missense_Mutation_p.G598E|EGFR_ENST00000344576.2_Missense_Mutation_p.G598E|EGFR_ENST00000455089.1_Missense_Mutation_p.G553E	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	15	Substitution - Missense(15)	central_nervous_system(15)											96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>A	7.37:g.55233043G>A	ENSP00000275493:p.Gly598Glu		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G598E	ENST00000275493.2	37	c.1793	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899687	0.91962	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.70334	0.3212	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.941;0.954;0.991;0.998	T	0.73936	-0.3825	10	0.87932	D	0	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	E	553;598;468;598;598;598;545;392	ENSP00000415559:G553E;ENSP00000342376:G598E;ENSP00000345973:G598E;ENSP00000275493:G598E;ENSP00000410031:G598E;ENSP00000395243:G545E	ENSP00000275493:G598E	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	ENSG00000146648		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	-	0	46	0	G	NM_005228		55233043	1	tier1	-	no_errors	ENST00000275493	ensembl	human	known	74_37	missense	39.06	39	25	SNP	1.000	A	A	55233043	G	A	55233043	3	1	144	1	0	0	0	0	1	0	0	0	4981	1174	41	3	1862	3	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	35033828	55233043	103905620	161	36564											
CLIP2	7461	genome.wustl.edu	37	chr7	73791017	73791017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcgctggccgagaagaaGatgttggactacgagcggct	10	8	14	9	4	1	3	0	0	1	3	2	6	1	4	1	3	2	3	1	3	3	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:73791017G>A	ENST00000395060.1	+	9	2286	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K	CLIP2_ENST00000361545.5_Silent_p.K727K|CLIP2_ENST00000223398.6_Silent_p.K762K			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	762						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						CCGAGAAGAAGATGTTGGACT	0.607																																																	0													29	35	33					7																	73791017		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2286G>A	7.37:g.73791017G>A			O14527|O43611	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.K762	ENST00000395060.1	37	c.2286	CCDS5569.1	7																																																																																			CLIP2	-	NULL	ENSG00000106665		0.607	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	-	0	67	0	G	NM_003388		73791017	1	tier1	-	no_errors	ENST00000223398	ensembl	human	known	74_37	silent	22.47	69	20	SNP	1.000	A	A	73791017	G	A	73791017	2	1	144	1	0	0	0	0	0	0	0	1	3540	933	33	3		3	CLIP2	7	73791017	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	18557974	73791017	85347646	162	36565											
POMZP3	22932	genome.wustl.edu	37	chr7	76240786	76240786	+	Missense_Mutation	SNP	A	A	C	1	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	cataccatgcctgcggttacAgggaagcagacgtggaccac	11	6	12	12	2	0	1	0	0	0	1	0	3	0	3	3	3	5	2	3	3	3	2	rs71819724	byFrequency	TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:76240786A>C	ENST00000310842.4	-	6	1244	c.560T>G	c.(559-561)cTg>cGg	p.L187R	POMZP3_ENST00000275569.4_Intron|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	187										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				CTGCGGTTACAGGGAAGCAGA	0.517																																																	0													51	55	54					7																	76240786		1684	3181	4865	SO:0001583	missense	0			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.560T>G	7.37:g.76240786A>C	ENSP00000309233:p.Leu187Arg		F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	pfam_ZP_dom	p.L187R	ENST00000310842.4	37	c.560	CCDS43606.1	7	.	.	.	.	.	.	.	.	.	.	N	12.82	2.052691	0.36181	.	.	ENSG00000146707	ENST00000310842	T	0.27256	1.68	.	.	.	.	48.261100	0.00760	U	0.001131	T	0.23926	0.0579	N	0.08118	0	0.09310	N	1	P	0.51240	0.943	P	0.55011	0.766	T	0.19745	-1.0296	8	0.87932	D	0	.	.	.	.	.	187	Q6PJE2	POZP3_HUMAN	R	187	ENSP00000309233:L187R	ENSP00000309233:L187R	L	-	2	0	POMZP3	76078722	0.049000	0.20398	0.276000	0.24689	0.537000	0.34900	-0.663000	0.05299	0.000000	0.14550	0.000000	0.15137	CTG	POMZP3	-	NULL	ENSG00000146707		0.517	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMZP3	HGNC	protein_coding	OTTHUMT00000341775.1		0	29	0	A	NM_012230		76240786	-1			no_errors	ENST00000310842	ensembl	human	known	74_37	missense	5.88	66	6	SNP	0.466	C	C	76240786	A	C	76240786	3	2	144	1	0	0	0	0	1	0	0	0	12286	188	7	4	14	4	POMZP3	7	76240786	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	2449769	76240786	82897877	163	36566											
DBF4	10926	genome.wustl.edu	37	chr7	87507388	87507389	+	Frame_Shift_Ins	INS	-	-	A																															tggaatccaagtcaaaaatgINSaaaaaaacagaccatctctg																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:87507388_87507389insA	ENST00000265728.1	+	2	571_572	c.67_68insA	c.(67-69)gaafs	p.E23fs	SLC25A40_ENST00000341119.5_5'Flank	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	23					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)				AGTCAAAAATGAAAAAAACAGA	0.302																																																	0																																										SO:0001589	frameshift_variant	0			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.74dupA	7.37:g.87507395_87507395dupA	ENSP00000265728:p.Glu23fs		A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Frame_Shift_Ins	INS	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.N25fs	ENST00000265728.1	37	c.67_68	CCDS5611.1	7																																																																																			DBF4	-	NULL	ENSG00000006634		0.302	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBF4	HGNC	protein_coding	OTTHUMT00000253678.1		0	165	0	-	NM_006716		87507389	1	tier1		no_errors	ENST00000265728	ensembl	human	known	74_37	frame_shift_ins	40.09	139	93	INS	1.000:1.000	A	A	87507389	-	A	87507388	7	5	144	1	0	1	1	0	0	0	0	0	4257	1291	45	0	73	0	DBF4	7	87507388	Frame_Shift_Ins	INS	-	TCGA-R6-A6XG-01B-11D-A33E-09	11266602	87507388	71631275	164	36567											
COL1A2	1278	genome.wustl.edu	37	chr7	94052369	94052369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccgaactggagaagtagGtgcagttggtccccctggct	7	9	15	10	1	0	1	0	0	0	1	1	3	1	1	3	5	2	4	3	5	3	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:94052369G>A	ENST00000297268.6	+	40	2975	c.2504G>A	c.(2503-2505)gGt>gAt	p.G835D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	835			G -> C (in OI3). {ECO:0000269|PubMed:16879195}.|G -> S (in OI1). {ECO:0000269|PubMed:8829649}.|Missing (in OI2). {ECO:0000269|PubMed:1339453}.		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)	GGAGAAGTAGGTGCAGTTGGT	0.562										HNSCC(75;0.22)																																							0													151	140	144					7																	94052369		2203	4300	6503	SO:0001583	missense	0			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.2504G>A	7.37:g.94052369G>A	ENSP00000297268:p.Gly835Asp		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	p.G835D	ENST00000297268.6	37	c.2504	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411054	0.83340	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99488	-6.0	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97137	0.9822	10	0.87932	D	0	.	19.1875	0.93649	0.0:0.0:1.0:0.0	.	835	P08123	CO1A2_HUMAN	D	835;836	ENSP00000297268:G835D	ENSP00000297268:G835D	G	+	2	0	COL1A2	93890305	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	9.869000	0.99810	2.614000	0.88457	0.563000	0.77884	GGT	COL1A2	-	NULL	ENSG00000164692		0.562	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	-	0	58	0	G	NM_000089		94052369	1	tier1	-	no_errors	ENST00000297268	ensembl	human	known	74_37	missense	41.26	84	59	SNP	1.000	A	A	94052369	G	A	94052369	3	1	144	1	0	0	0	0	1	0	0	0	3685	1261	44	3	2662	3	COL1A2	7	94052369	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6544981	94052369	65086294	165	36568											
GIGYF1	64599	genome.wustl.edu	37	chr7	100284957	100284957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgcgctggatttcccggGggcttcgtccaaaggcccca	5	8	14	14	3	0	0	0	0	0	0	3	1	2	1	4	5	1	3	4	5	1	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:100284957G>T	ENST00000275732.5	-	5	1655	c.446C>A	c.(445-447)cCc>cAc	p.P149H	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	149					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)					GATTTCCCGGGGGCTTCGTCC	0.657																																																	0													65	72	69					7																	100284957		2203	4300	6503	SO:0001583	missense	0			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.446C>A	7.37:g.100284957G>T	ENSP00000275732:p.Pro149His		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.P149H	ENST00000275732.5	37	c.446	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	22.0	4.233210	0.79688	.	.	ENSG00000146830	ENST00000275732	D	0.82803	-1.65	5.21	5.21	0.72293	.	0.160696	0.44097	D	0.000495	T	0.76564	0.4005	N	0.14661	0.345	0.35429	D	0.793865	D	0.64830	0.994	P	0.51355	0.667	T	0.81583	-0.0866	10	0.39692	T	0.17	-14.4957	12.0782	0.53655	0.0:0.1734:0.8265:0.0	.	149	O75420	PERQ1_HUMAN	H	149	ENSP00000275732:P149H	ENSP00000275732:P149H	P	-	2	0	GIGYF1	100122893	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.666000	0.46799	2.415000	0.81967	0.563000	0.77884	CCC	GIGYF1	-	NULL	ENSG00000146830		0.657	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2		0	45	0	G	NM_022574		100284957	-1			no_errors	ENST00000275732	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	100284957	G	T	100284957	3	4	144	1	0	0	0	0	1	0	0	0	6403	1232	43	3	2741	3	GIGYF1	7	100284957	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6232588	100284957	58853706	166	36569											
DNAJC2	27000	genome.wustl.edu	37	chr7	102964049	102964051	+	In_Frame_Del	DEL	CTG	CTG	-																															tgatttgcatacataccattCtgctttttctttttcttctt																								rs369683489		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:102964049_102964051delCTG	ENST00000379263.3	-	7	963_965	c.713_715delCAG	c.(712-717)gcagaa>gaa	p.A238del	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_In_Frame_Del_p.A238del	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	238	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ACATACCATTCTGCTTTTTCTTT	0.256																																																	0																																										SO:0001651	inframe_deletion	0			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.713_715delCAG	7.37:g.102964049_102964051delCTG	ENSP00000368565:p.Ala238del		A4VCI0|Q9BVX1	In_Frame_Del	DEL	pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain	p.A238in_frame_del	ENST00000379263.3	37	c.715_713	CCDS43628.1	7																																																																																			DNAJC2	-	NULL	ENSG00000105821		0.256	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC2	HGNC	protein_coding	OTTHUMT00000347891.1		0	50	0	CTG			102964051	-1	tier1		no_errors	ENST00000379263	ensembl	human	known	74_37	in_frame_del	32.99	65	32	DEL	1.000:0.998:1.000	-	-	102964051	CTG	-	102964049	7	5	144	1	0	1	0	1	0	0	0	0	4653	922	32	0	1194	0	DNAJC2	7	102964049	In_Frame_Del	DEL	CTG	TCGA-R6-A6XG-01B-11D-A33E-09	2679092	102964049	56174614	167	36570	133	2									
DNAJC2	27000	genome.wustl.edu	37	chr7	102964051	102964052	+	Missense_Mutation	DNP	GC	GC	TT																															atttgcatacataccattctGctttttctttttcttcttca																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:102964051_102964052GC>TT	ENST00000379263.3	-	7	962_963	c.712_713GC>AA	c.(712-714)GCa>AAa	p.A238K	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.A238K	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	238	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ATACCATTCTGCTTTTTCTTTT	0.257																																																	0																																										SO:0001583	missense	0			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.712_713delinsTT	7.37:g.102964051_102964052delinsTT	ENSP00000368565:p.Ala238Lys		A4VCI0|Q9BVX1	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain	p.A238E|p.A238T	ENST00000379263.3	37	c.713|c.712	CCDS43628.1	7																																																																																			DNAJC2	-	NULL	ENSG00000105821		0.257	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC2	HGNC	protein_coding	OTTHUMT00000347891.1		0	48	0	G|C			102964051|102964052	-1			no_errors	ENST00000379263	ensembl	human	known	74_37	missense	18.18|9.18	54|89	12|9	SNP	1.000	T	TT	102964052	GC	TT	102964051	3	4	144	1	0	0	0	0	1	0	0	0	4653	1319	46	3	1196	3	DNAJC2	7	102964051	Missense_Mutation	DNP	GC	TCGA-R6-A6XG-01B-11D-A33E-09	2	102964051	56174612	168	36571	133	2									
WASL	8976	genome.wustl.edu	37	chr7	123329200	123329200	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gtgtagactcttggccatcaGccaccttggaaaagaaagtt	12	10	10	9	0	2	2	1	0	1	2	2	3	2	3	3	2	1	2	3	2	4	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:123329200G>T	ENST00000223023.4	-	10	1684	c.1352C>A	c.(1351-1353)gCt>gAt	p.A451D		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	451					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						TTGGCCATCAGCCACCTTGGA	0.408																																																	0													126	125	125					7																	123329200		2203	4300	6503	SO:0001583	missense	0			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.1352C>A	7.37:g.123329200G>T	ENSP00000223023:p.Ala451Asp		A1JUI9|Q7Z746	Missense_Mutation	SNP	pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom	p.A451D	ENST00000223023.4	37	c.1352	CCDS34743.1	7	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945603	0.53079	.	.	ENSG00000106299	ENST00000223023	D	0.99701	-6.45	5.29	4.41	0.53225	Wiscott-Aldrich syndrome, C-terminal (1);	0.425937	0.25164	N	0.032642	D	0.97368	0.9139	N	0.02247	-0.625	0.23806	N	0.996798	B	0.15930	0.015	B	0.17979	0.02	D	0.94003	0.7277	10	0.52906	T	0.07	-15.0063	13.8823	0.63688	0.074:0.0:0.926:0.0	.	451	O00401	WASL_HUMAN	D	451	ENSP00000223023:A451D	ENSP00000223023:A451D	A	-	2	0	WASL	123116436	1.000000	0.71417	0.998000	0.56505	0.747000	0.42532	5.855000	0.69510	1.209000	0.43321	0.585000	0.79938	GCT	WASL	-	superfamily_WASP_C	ENSG00000106299		0.408	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1		0	36	0	G	NM_003941		123329200	-1			no_errors	ENST00000223023	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	123329200	G	T	123329200	3	4	144	1	0	0	0	0	1	0	0	0	17305	971	34	3	173	3	WASL	7	123329200	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	20365149	123329200	35809463	169	36572											
POT1	25913	genome.wustl.edu	37	chr7	124503562	124503562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaggcttctaccattttgtGgtcctcagtagtgaagttaa	10	15	9	7	0	2	1	1	1	1	0	3	1	3	1	2	2	1	3	2	2	5	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:124503562G>T	ENST00000357628.3	-	8	986	c.388C>A	c.(388-390)Cac>Aac	p.H130N	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	130					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						ACCATTTTGTGGTCCTCAGTA	0.433																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													162	148	153					7																	124503562		2203	4299	6502	SO:0001583	missense	0			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.388C>A	7.37:g.124503562G>T	ENSP00000350249:p.His130Asn		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.H130N	ENST00000357628.3	37	c.388	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545129	0.27652	.	.	ENSG00000128513	ENST00000357628;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T	0.40476	1.03	5.44	2.4	0.29515	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	1.004790	0.07994	N	0.987559	T	0.24236	0.0587	N	0.08118	0	0.38643	D	0.951659	B	0.11235	0.004	B	0.17722	0.019	T	0.07986	-1.0744	10	0.17832	T	0.49	-24.1695	10.6888	0.45858	0.0:0.3973:0.4655:0.1372	.	130	Q9NUX5	POTE1_HUMAN	N	130;130;130;130;129	ENSP00000350249:H130N	ENSP00000265391:H129N	H	-	1	0	POT1	124290798	0.087000	0.21565	0.776000	0.31678	0.961000	0.63080	0.855000	0.27805	0.618000	0.30179	0.650000	0.86243	CAC	POT1	-	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	ENSG00000128513		0.433	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	-	0	32	0	G			124503562	-1	tier1	-	no_errors	ENST00000357628	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.600	T	T	124503562	G	T	124503562	3	4	144	1	0	0	0	0	1	0	0	0	12299	1348	47	3	1564	3	POT1	7	124503562	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1174362	124503562	34635101	170	36573											
ARF5	381	genome.wustl.edu	37	chr7	127231142	127231142	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttacgcagccgcacGgtaggggtcctgcccacctg	7	6	12	16	3	0	0	0	0	0	0	1	0	1	0	4	3	4	4	4	3	2	2	rs572157049		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:127231142G>T	ENST00000000233.5	+	5	610	c.456G>T	c.(454-456)acG>acT	p.T152T	FSCN3_ENST00000265825.5_5'Flank|FSCN3_ENST00000420086.2_5'Flank|GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	152					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GCAGCCGCACGGTAGGGGTCC	0.577																																																	0													80	74	76					7																	127231142		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"ADP-ribosylation factors"	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.456+1G>T	7.37:g.127231142G>T			P26437	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T152	ENST00000000233.5	37	c.456	CCDS34745.1	7																																																																																			ARF5	-	pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type	ENSG00000004059		0.577	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF5	HGNC	protein_coding	OTTHUMT00000059567.2	-	0	59	0	G	NM_001662	Silent	127231142	1	tier1	-	no_errors	ENST00000000233	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.988	T	T	127231142	G	T	127231142	5	4	144	1	0	0	0	0	0	0	1	0	847	1130	39	2	474	2	ARF5	7	127231142	Splice_Site	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2727580	127231142	31907521	171	36574											
EXOC4	60412	genome.wustl.edu	37	chr7	133314798	133314798	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttttctttcttctgaaagGgggtcctgatgacaacttaa	9	17	8	7	0	3	3	0	3	3	0	4	3	4	3	1	2	1	0	1	2	3	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:133314798G>A	ENST00000253861.4	+	10	1447	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E	EXOC4_ENST00000545148.1_Splice_Site_p.G83E|EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000539845.1_Splice_Site_p.G372E	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	473					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CTTCTGAAAGGGGGTCCTGAT	0.358																																																	0													91	91	91					7																	133314798		2203	4300	6503	SO:0001630	splice_region_variant	0			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1418-1G>A	7.37:g.133314798G>A			E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.G473E	ENST00000253861.4	37	c.1418	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239222	0.79800	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	L	0.36672	1.1	0.80722	D	1	B;D;D	0.89917	0.376;0.999;1.0	B;D;D	0.83275	0.058;0.973;0.996	T	0.68055	-0.5510	8	.	.	.	.	20.1519	0.98089	0.0:0.0:1.0:0.0	.	5;83;473	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	E	473;92;372;83	.	.	G	+	2	0	EXOC4	132965338	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.004000	0.93583	2.861000	0.98227	0.655000	0.94253	GGG	EXOC4	-	NULL	ENSG00000131558		0.358	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	-	0	29	0	G	NM_021807	Missense_Mutation	133314798	1	tier1	-	no_errors	ENST00000253861	ensembl	human	known	74_37	missense	29.09	39	16	SNP	1.000	A	A	133314798	G	A	133314798	5	1	144	1	0	0	0	0	0	0	1	0	5322	1246	43	3	1465	3	EXOC4	7	133314798	Splice_Site	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6083656	133314798	25823865	172	36575											
MRPS33	51650	genome.wustl.edu	37	chr7	140710420	140710420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatgcggaaggcatattctGaaagggaggacatttcttga	13	10	12	6	1	2	2	0	2	2	0	2	5	2	5	0	4	1	1	0	4	3	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:140710420G>A	ENST00000393008.3	-	2	169	c.14C>T	c.(13-15)tCa>tTa	p.S5L	MRPS33_ENST00000467334.1_Intron|MRPS33_ENST00000496958.1_Missense_Mutation_p.S5L|MRPS33_ENST00000472343.1_5'Flank|MRPS33_ENST00000469351.1_Missense_Mutation_p.S5L|MRPS33_ENST00000324787.5_Missense_Mutation_p.S5L	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	5					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					GGCATATTCTGAAAGGGAGGA	0.413																																																	0													103	102	102					7																	140710420		2203	4300	6503	SO:0001583	missense	0			AF078858	CCDS5864.1	7q34	2012-09-13			ENSG00000090263	ENSG00000090263		"Mitochondrial ribosomal proteins / small subunits"	16634	protein-coding gene	gene with protein product		611993				11279123, 10810093	Standard	NM_016071		Approved	CGI-139	uc003vwe.4	Q9Y291	OTTHUMG00000157456	ENST00000393008.3:c.14C>T	7.37:g.140710420G>A	ENSP00000376732:p.Ser5Leu			Missense_Mutation	SNP	pfam_Ribosomal_S27/S33_mit	p.S5L	ENST00000393008.3	37	c.14	CCDS5864.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.425882	0.96131	.	.	ENSG00000090263	ENST00000544013;ENST00000393008;ENST00000324787;ENST00000496958;ENST00000469351	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.84579	0.5503	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86476	0.1788	9	0.87932	D	0	-12.4406	19.5988	0.95551	0.0:0.0:1.0:0.0	.	5	Q9Y291	RT33_HUMAN	L	5	.	ENSP00000320567:S5L	S	-	2	0	MRPS33	140356889	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.187000	0.94912	2.708000	0.92522	0.591000	0.81541	TCA	MRPS33	-	NULL	ENSG00000090263		0.413	MRPS33-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MRPS33	HGNC	protein_coding	OTTHUMT00000348878.1	-	0	84	0	G	NM_053035		140710420	-1	tier1	-	no_errors	ENST00000324787	ensembl	human	known	74_37	missense	25.81	46	16	SNP	1.000	A	A	140710420	G	A	140710420	3	1	144	1	0	0	0	0	1	0	0	0	9880	1294	45	3	314	3	MRPS33	7	140710420	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	7395622	140710420	18428243	173	36576											
PTPRN2	5799	genome.wustl.edu	37	chr7	157985175	157985175	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctcctctcgctgccaacgctGtgttttgagggcctgaaaaa	8	11	10	12	2	1	2	0	2	1	0	3	2	2	2	3	1	2	3	3	1	3	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr7:157985175G>T	ENST00000389418.4	-	5	402	c.393C>A	c.(391-393)caC>caA	p.H131Q	PTPRN2_ENST00000389413.3_Missense_Mutation_p.H131Q|PTPRN2_ENST00000404321.2_Missense_Mutation_p.H154Q|PTPRN2_ENST00000409483.1_Missense_Mutation_p.H93Q|PTPRN2_ENST00000389416.4_Missense_Mutation_p.H114Q	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	131					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)		TGCCAACGCTGTGTTTTGAGG	0.627																																																	0													51	59	56					7																	157985175		2203	4299	6502	SO:0001583	missense	0			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.393C>A	7.37:g.157985175G>T	ENSP00000374069:p.His131Gln		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.H154Q	ENST00000389418.4	37	c.462	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	G	2.618	-0.289214	0.05605	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02709	4.19;4.26;4.24;4.26;4.25	4.17	2.32	0.28847	.	.	.	.	.	T	0.01156	0.0038	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.49021	-0.8982	9	0.13470	T	0.59	.	5.0871	0.14689	0.0:0.6594:0.224:0.1166	.	154;93;131;114;131	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	Q	93;131;114;131;154	ENSP00000387114:H93Q;ENSP00000374064:H131Q;ENSP00000374067:H114Q;ENSP00000374069:H131Q;ENSP00000385464:H154Q	ENSP00000374064:H131Q	H	-	3	2	PTPRN2	157677936	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	-0.144000	0.10280	1.041000	0.40125	-0.226000	0.12346	CAC	PTPRN2	-	NULL	ENSG00000155093		0.627	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	-	0	101	0	G			157985175	-1	tier1	-	no_errors	ENST00000404321	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.006	T	T	157985175	G	T	157985175	3	4	144	1	0	0	0	0	1	0	0	0	12853	1368	48	3	2730	3	PTPRN2	7	157985175	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	17274755	157985175	1153488	174	36577											
CSMD1	64478	genome.wustl.edu	37	chr8	2824268	2824268	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagggttgccacaggacacgGctgttaggcaaacaagaaca	14	5	12	10	1	0	1	0	0	0	1	0	2	0	2	1	4	3	4	1	4	4	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:2824268G>A	ENST00000520002.1	-	59	9482	c.8927C>T	c.(8926-8928)gCc>gTc	p.A2976V	CSMD1_ENST00000537824.1_Splice_Site_p.A2975V|CSMD1_ENST00000602557.1_Splice_Site_p.A2976V|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2976	Sushi 22. {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)		ACAGGACACGGCTGTTAGGCA	0.507																																																	0													46	47	47					8																	2824268		2065	4214	6279	SO:0001630	splice_region_variant	0					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.8927-1C>T	8.37:g.2824268G>A			Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A2976V	ENST00000520002.1	37	c.8927		8	.	.	.	.	.	.	.	.	.	.	G	9.620	1.133684	0.21123	.	.	ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824	T;T	0.24908	1.83;1.83	5.46	5.46	0.80206	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	N	0.17901	0.54	0.80722	D	1	D;B	0.69078	0.997;0.004	D;B	0.70716	0.97;0.009	T	0.02179	-1.1200	10	0.02654	T	1	.	19.3169	0.94218	0.0:0.0:1.0:0.0	.	2976;2976	E5RIG2;Q96PZ7	.;CSMD1_HUMAN	V	2976;2837;2975	ENSP00000430733:A2976V;ENSP00000441462:A2975V	ENSP00000320445:A2837V	A	-	2	0	CSMD1	2811675	1.000000	0.71417	0.420000	0.26596	0.273000	0.26683	5.173000	0.65010	2.557000	0.86248	0.655000	0.94253	GCC	CSMD1	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0	48	0	G	NM_033225	Missense_Mutation	2824268	-1			no_errors	ENST00000520002	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.996	A	A	2824268	G	A	2824268	5	1	144	1	0	0	0	0	0	0	1	0	3953	1217	42	3	1822	3	CSMD1	8	2824268	Splice_Site	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09		2824268	143539754	175	36578											
CSMD1	64478	genome.wustl.edu	37	chr8	2967710	2967710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatcgttgacagcttccGtctgtaacagggtgaagttg	9	13	12	7	2	1	2	0	2	1	0	3	2	2	2	1	1	2	5	1	1	3	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:2967710G>A	ENST00000520002.1	-	44	7136	c.6581C>T	c.(6580-6582)aCg>aTg	p.T2194M	CSMD1_ENST00000537824.1_Missense_Mutation_p.T2193M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2194M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2194M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2194M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2193M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2194	CUB 13. {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)		GACAGCTTCCGTCTGTAACAG	0.448																																																	0													98	97	97					8																	2967710		1958	4134	6092	SO:0001583	missense	0					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.6581C>T	8.37:g.2967710G>A	ENSP00000430733:p.Thr2194Met		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T2194M	ENST00000520002.1	37	c.6581		8	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893250	0.52121	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	4.96	4.96	0.65561	CUB (5);	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	L	0.56199	1.76	0.80722	D	1	D;P;D	0.89917	1.0;0.911;1.0	D;P;D	0.91635	0.998;0.658;0.999	T	0.20075	-1.0286	10	0.45353	T	0.12	.	18.564	0.91111	0.0:0.0:1.0:0.0	.	2194;2194;2193	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	M	2194;2194;2055;2193;2193	ENSP00000383047:T2194M;ENSP00000430733:T2194M;ENSP00000441462:T2193M;ENSP00000446243:T2193M	ENSP00000320445:T2055M	T	-	2	0	CSMD1	2955117	1.000000	0.71417	0.946000	0.38457	0.223000	0.24884	5.911000	0.69939	2.461000	0.83175	0.453000	0.30009	ACG	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.448	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	55	0	G	NM_033225		2967710	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	25.64	58	20	SNP	0.995	A	A	2967710	G	A	2967710	3	1	144	1	0	0	0	0	1	0	0	0	3953	1145	40	1	4228	1	CSMD1	8	2967710	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	143442	2967710	143396312	176	36579											
ANGPT2	285	genome.wustl.edu	37	chr8	6372251	6372251	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgctgccatcctcacgtcGctgaataattgtccacccgc	9	9	7	16	4	1	1	1	1	0	0	4	1	3	1	4	0	2	2	4	0	3	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:6372251G>C	ENST00000325203.5	-	6	1453	c.979C>G	c.(979-981)Cga>Gga	p.R327G	ANGPT2_ENST00000415216.1_Missense_Mutation_p.R326G|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Missense_Mutation_p.R326G|ANGPT2_ENST00000338312.6_Missense_Mutation_p.R275G			O15123	ANGP2_HUMAN	angiopoietin 2	327	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TCCTCACGTCGCTGAATAATT	0.478																																																	0													165	177	173					8																	6372251		2203	4300	6503	SO:0001583	missense	0			AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"Fibrinogen C domain containing"	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.979C>G	8.37:g.6372251G>C	ENSP00000314897:p.Arg327Gly		A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.R327G	ENST00000325203.5	37	c.979	CCDS5958.1	8	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874260	0.72180	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	T;T;T;T	0.78595	1.79;1.79;1.79;-1.19	5.81	3.81	0.43845	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.161185	0.52532	D	0.000067	D	0.91479	0.7310	H	0.97240	3.965	0.35253	D	0.778917	P;D;P;P	0.63880	0.661;0.993;0.814;0.952	B;D;B;P	0.66716	0.122;0.946;0.243;0.729	D	0.96661	0.9489	10	0.87932	D	0	.	14.3224	0.66496	0.0:0.0:0.7259:0.2741	.	275;326;326;327	O15123-2;E7EVQ3;O15123-3;O15123	.;.;.;ANGP2_HUMAN	G	327;326;275;326	ENSP00000314897:R327G;ENSP00000400782:R326G;ENSP00000343517:R275G;ENSP00000428023:R326G	ENSP00000314897:R327G	R	-	1	2	ANGPT2	6359659	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.059000	0.41384	1.433000	0.47394	0.655000	0.94253	CGA	ANGPT2	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000091879		0.478	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANGPT2	HGNC	protein_coding	OTTHUMT00000206737.1	-	0	38	0	G	NM_001147		6372251	-1	tier1	-	no_errors	ENST00000325203	ensembl	human	known	74_37	missense	23.26	33	10	SNP	0.998	C	C	6372251	G	C	6372251	3	2	144	1	0	0	0	0	1	0	0	0	611	1095	38	5	527	5	ANGPT2	8	6372251	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3404541	6372251	139991771	177	36580											
KCNU1	157855	genome.wustl.edu	37	chr8	36767014	36767014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactatctacagagagaatgGcgatttctctggaattttcc	11	13	9	8	1	2	2	0	0	2	2	4	6	3	3	1	2	1	0	1	2	4	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:36767014G>T	ENST00000399881.3	+	21	2329	c.2292G>T	c.(2290-2292)tgG>tgT	p.W764C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	764					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)		AGAGAGAATGGCGATTTCTCT	0.378																																																	0													129	129	129					8																	36767014		1852	4084	5936	SO:0001583	missense	0			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.2292G>T	8.37:g.36767014G>T	ENSP00000382770:p.Trp764Cys			Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.W764C	ENST00000399881.3	37	c.2292	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279021	0.59758	.	.	ENSG00000215262	ENST00000399881	T	0.54071	0.59	5.8	5.8	0.92144	.	0.000000	0.36591	U	0.002516	T	0.75882	0.3910	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.78476	-0.2189	10	0.87932	D	0	-2.7834	19.6593	0.95859	0.0:0.0:1.0:0.0	.	764	A8MYU2	KCNU1_HUMAN	C	764	ENSP00000382770:W764C	ENSP00000382770:W764C	W	+	3	0	KCNU1	36886172	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	9.094000	0.94168	2.745000	0.94114	0.655000	0.94253	TGG	KCNU1	-	NULL	ENSG00000215262		0.378	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0	36	0	G	NM_001031836		36767014	1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	36767014	G	T	36767014	3	4	144	1	0	0	0	0	1	0	0	0	8120	1212	42	3	2374	3	KCNU1	8	36767014	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	30394763	36767014	109597008	178	36581											
SNTG1	54212	genome.wustl.edu	37	chr8	51449339	51449339	+	Silent	SNP	T	T	C	0	1	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	ctacttcattcgcgcttctcTcagtatgtgcccggcacaga	7	12	8	14	3	3	1	2	0	1	1	5	1	3	1	1	1	2	3	1	1	2	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:51449339T>C	ENST00000522124.1	+	11	1312	c.651T>C	c.(649-651)tcT>tcC	p.S217S	SNTG1_ENST00000517473.1_Silent_p.S217S|SNTG1_ENST00000518864.1_Silent_p.S217S|SNTG1_ENST00000276467.5_Silent_p.S217S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	217					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CGCGCTTCTCTCAGTATGTGC	0.478																																																	0													207	184	192					8																	51449339		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.651T>C	8.37:g.51449339T>C			Q2M3Q0|Q9NY98	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.S217	ENST00000522124.1	37	c.651	CCDS6147.1	8																																																																																			SNTG1	-	smart_Pleckstrin_homology	ENSG00000147481		0.478	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	-	0	15	0	T			51449339	1	tier1	-	no_errors	ENST00000518864	ensembl	human	known	74_37	silent	23.81	16	5	SNP	0.998	C	C	51449339	T	C	51449339	2	2	144	1	0	0	0	0	0	0	0	1	14919	1538	54	4		4	SNTG1	8	51449339	Silent	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	14682325	51449339	94914683	179	36582											
ADHFE1	137872	genome.wustl.edu	37	chr8	67356900	67356900	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctccaagctccctcctgtGcaagtagctatggattccct	7	12	7	15	0	1	0	0	0	1	0	5	1	4	1	4	1	3	4	4	1	4	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:67356900G>T	ENST00000396623.3	+	5	301	c.270G>T	c.(268-270)gtG>gtT	p.V90V	ADHFE1_ENST00000379385.4_Silent_p.V90V|ADHFE1_ENST00000415254.1_Silent_p.V42V|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	90					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)			TCCCTCCTGTGCAAGTAGCTA	0.413																																																	0													257	242	247					8																	67356900		2203	4300	6503	SO:0001819	synonymous_variant	0			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.270G>T	8.37:g.67356900G>T			B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Silent	SNP	pfam_ADH_Fe	p.V90	ENST00000396623.3	37	c.270	CCDS6190.2	8																																																																																			ADHFE1	-	pfam_ADH_Fe	ENSG00000147576		0.413	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADHFE1	HGNC	protein_coding	OTTHUMT00000316867.3	-	0	72	0	G	NM_144650		67356900	1	tier1	-	no_errors	ENST00000396623	ensembl	human	known	74_37	silent	6.33	74	5	SNP	0.003	T	T	67356900	G	T	67356900	2	4	144	1	0	0	0	0	0	0	0	1	314	1306	46	3		3	ADHFE1	8	67356900	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	15907561	67356900	79007122	180	36583											
C8orf34	116328	genome.wustl.edu	37	chr8	69434158	69434158	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctccaattccaagaagcaAaaatgaccaatgggaaagtg	17	6	9	9	0	0	2	0	1	0	1	2	3	2	3	4	1	1	1	4	1	7	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:69434158A>T	ENST00000539993.1	+	6	1181	c.632A>T	c.(631-633)aAa>aTa	p.K211I	C8orf34_ENST00000337103.4_Missense_Mutation_p.K186I|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.K211I|C8orf34_ENST00000518698.1_Missense_Mutation_p.K297I			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	211										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)			CCAAGAAGCAAAAATGACCAA	0.438																																																	0													102	97	99					8																	69434158		2203	4300	6503	SO:0001583	missense	0			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.632A>T	8.37:g.69434158A>T	ENSP00000438159:p.Lys211Ile		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.K297I	ENST00000539993.1	37	c.890		8	.	.	.	.	.	.	.	.	.	.	A	31	5.064306	0.93898	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.55234	0.53;0.57;0.55	5.59	5.59	0.84812	.	0.092020	0.85682	D	0.000000	T	0.69851	0.3157	M	0.62723	1.935	0.41632	D	0.98902	D;D	0.89917	0.963;1.0	P;D	0.85130	0.76;0.997	T	0.70015	-0.4988	9	.	.	.	-18.0878	16.0668	0.80887	1.0:0.0:0.0:0.0	.	211;211	Q49A92;Q49A92-3	CH034_HUMAN;.	I	297;211;211;186	ENSP00000427820:K297I;ENSP00000438159:K211I;ENSP00000337174:K186I	.	K	+	2	0	C8orf34	69596712	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.918000	0.87506	2.246000	0.74042	0.533000	0.62120	AAA	C8orf34	-	NULL	ENSG00000165084		0.438	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding		-	0	81	0	A	NM_052958		69434158	1	tier1	-	no_errors	ENST00000518698	ensembl	human	known	74_37	missense	29.07	61	25	SNP	1.000	T	T	69434158	A	T	69434158	3	4	144	1	0	0	0	0	1	0	0	0	2429	14	1	5	575	5	C8orf34	8	69434158	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	2077258	69434158	76929864	181	36584											
ZFHX4	79776	genome.wustl.edu	37	chr8	77766811	77766811	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgatgactggacaactgCtgggcagttccctcactcaa	9	9	10	13	1	2	2	2	2	0	0	3	3	3	3	1	2	2	4	1	2	2	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:77766811C>T	ENST00000521891.2	+	10	8102	c.7654C>T	c.(7654-7656)Ctg>Ttg	p.L2552L	ZFHX4_ENST00000050961.6_Silent_p.L2507L|ZFHX4_ENST00000518282.1_Silent_p.L2526L|ZFHX4_ENST00000455469.2_Silent_p.L2507L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2507					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)			TGGACAACTGCTGGGCAGTTC	0.517										HNSCC(33;0.089)																																							0													96	95	95					8																	77766811		1956	4140	6096	SO:0001819	synonymous_variant	0				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.7654C>T	8.37:g.77766811C>T			G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L2552	ENST00000521891.2	37	c.7654	CCDS47878.2	8																																																																																			ZFHX4	-	NULL	ENSG00000091656		0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	29	0	C	NM_024721		77766811	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	silent	29.55	31	13	SNP	1.000	T	T	77766811	C	T	77766811	2	4	144	1	0	0	0	0	0	0	0	1	17683	796	28	3		3	ZFHX4	8	77766811	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	8332653	77766811	68597211	182	36585											
TTC35	9694	genome.wustl.edu	37	chr8	109491236	109491236	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtttttatttgtttttagtCggcaagtcatattgcttcta	7	22	7	5	1	2	0	1	0	1	0	3	0	2	0	0	1	1	4	0	1	5	11			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:109491236C>G	ENST00000220853.3	+	10	739	c.704C>G	c.(703-705)tCg>tGg	p.S235W	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	235						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TGTTTTTAGTCGGCAAGTCAT	0.323																																																	0													79	74	75					8																	109491236		2203	4300	6503	SO:0001630	splice_region_variant	0			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"tetratricopeptide repeat domain 35"	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.703-1C>G	8.37:g.109491236C>G			Q8WUE1	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S235W	ENST00000220853.3	37	c.704	CCDS6309.1	8	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225044	0.79576	.	.	ENSG00000104412	ENST00000220853	T	0.76839	-1.05	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	D	0.86685	0.1919	10	0.54805	T	0.06	-9.2818	19.8297	0.96630	0.0:1.0:0.0:0.0	.	235	Q15006	TTC35_HUMAN	W	235	ENSP00000220853:S235W	ENSP00000220853:S235W	S	+	2	0	TTC35	109560412	1.000000	0.71417	0.987000	0.45799	0.816000	0.46133	7.412000	0.80091	2.697000	0.92050	0.557000	0.71058	TCG	EMC2	-	NULL	ENSG00000104412		0.323	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC2	HGNC	protein_coding	OTTHUMT00000380717.1	-	0	22	0	C	NM_014673	Missense_Mutation	109491236	1	tier1	-	no_errors	ENST00000220853	ensembl	human	known	74_37	missense	47.83	12	11	SNP	1.000	G	G	109491236	C	G	109491236	5	3	144	1	0	0	0	0	0	0	1	0	16752	898	31	5	742	5	TTC35	8	109491236	Splice_Site	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	31724425	109491236	36872786	183	36586											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110527510	110527510	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccagcagaaacactgtGaacttaataaccatctgtac	15	9	6	11	0	1	2	0	1	1	1	1	2	1	2	2	0	6	2	2	0	5	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:110527510G>T	ENST00000378402.5	+	72	11769	c.11665G>T	c.(11665-11667)Gaa>Taa	p.E3889*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3889					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)			GAAACACTGTGAACTTAATAA	0.318										HNSCC(38;0.096)																																							0													76	68	71					8																	110527510		1837	4084	5921	SO:0001587	stop_gained	0			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.11665G>T	8.37:g.110527510G>T	ENSP00000367655:p.Glu3889*		Q567P2|Q9UF27	Nonsense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.E3889*	ENST00000378402.5	37	c.11665	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810556	0.90707	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	.	.	.	5.46	-1.89	0.07689	.	0.640835	0.16601	N	0.207347	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	5.7912	0.18361	0.5094:0.1437:0.3468:0.0	.	.	.	.	X	3889;817	.	ENSP00000367655:E3889X	E	+	1	0	PKHD1L1	110596686	0.767000	0.28508	0.156000	0.22583	0.572000	0.35998	0.335000	0.19806	-0.477000	0.06832	-0.237000	0.12165	GAA	PKHD1L1	-	NULL	ENSG00000205038		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0	40	0	G	NM_177531		110527510	1			no_errors	ENST00000378402	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	0.643	T	T	110527510	G	T	110527510	4	4	144	1	0	0	0	0	0	1	0	0	12011	1291	45	3	11951	3	PKHD1L1	8	110527510	Nonsense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1036274	110527510	35836512	184	36587											
CSMD3	114788	genome.wustl.edu	37	chr8	113299394	113299394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcacaagcataacgtacaGtacttttagttctgaaattg	14	14	6	7	1	2	1	1	1	1	0	2	1	2	1	0	0	4	4	0	0	7	8			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:113299394G>T	ENST00000297405.5	-	58	9474	c.9230C>A	c.(9229-9231)aCt>aAt	p.T3077N	CSMD3_ENST00000455883.2_Missense_Mutation_p.T2908N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3007N|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3037N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3077	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T3037I(1)|p.T3077I(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						ATAACGTACAGTACTTTTAGT	0.473										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - Missense(2)	lung(2)											178	150	159					8																	113299394		2203	4300	6503	SO:0001583	missense	0			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.9230C>A	8.37:g.113299394G>T	ENSP00000297405:p.Thr3077Asn		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T3077N	ENST00000297405.5	37	c.9230	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698518	0.30142	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.36	2.5	0.30297	Complement control module (2);Sushi/SCR/CCP (3);	0.652914	0.14801	N	0.297625	T	0.60274	0.2256	M	0.65498	2.005	0.20926	N	0.999828	B;B;B	0.23316	0.035;0.083;0.074	B;B;B	0.30943	0.036;0.122;0.091	T	0.51639	-0.8680	10	0.31617	T	0.26	.	3.6034	0.08032	0.12:0.1202:0.5131:0.2466	.	2908;3077;3037	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	3037;3077;2347;2908;3007	ENSP00000345799:T3037N;ENSP00000297405:T3077N;ENSP00000341558:T2347N;ENSP00000412263:T2908N;ENSP00000343124:T3007N	ENSP00000297405:T3077N	T	-	2	0	CSMD3	113368570	0.565000	0.26610	0.986000	0.45419	0.993000	0.82548	0.814000	0.27239	0.728000	0.32382	0.650000	0.86243	ACT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.473	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0	26	0	G	NM_052900		113299394	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.421	T	T	113299394	G	T	113299394	3	4	144	1	0	0	0	0	1	0	0	0	3955	1029	36	3	1949	3	CSMD3	8	113299394	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2771884	113299394	33064628	185	36588											
EIF3H	8667	genome.wustl.edu	37	chr8	117668098	117668098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggcagggccacttacctgCtggcaaggctgagcaattca	10	8	12	11	0	1	1	1	1	0	0	1	1	1	1	2	4	3	5	2	4	4	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:117668098C>T	ENST00000276682.4	-	7	1512	c.746G>A	c.(745-747)aGc>aAc	p.S249N	EIF3H_ENST00000521861.1_Missense_Mutation_p.S235N					eukaryotic translation initiation factor 3, subunit H									p.S235I(1)		large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CACTTACCTGCTGGCAAGGCT	0.373																																																	1	Substitution - Missense(1)	lung(1)											96	85	89					8																	117668098		2203	4300	6503	SO:0001583	missense	0			U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.746G>A	8.37:g.117668098C>T	ENSP00000276682:p.Ser249Asn			Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.S235N	ENST00000276682.4	37	c.704		8	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848777	0.91277	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518949	T;T	0.45668	0.89;0.89	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	L	0.46157	1.445	0.80722	D	1	P;P	0.48764	0.915;0.842	B;B	0.36922	0.236;0.236	T	0.41233	-0.9520	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	249;235	B3KS98;O15372	.;EIF3H_HUMAN	N	235;249;203	ENSP00000429931:S235N;ENSP00000276682:S249N	ENSP00000276682:S249N	S	-	2	0	EIF3H	117737279	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.771000	0.85420	2.937000	0.99478	0.650000	0.86243	AGC	EIF3H	-	NULL	ENSG00000147677		0.373	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	EIF3H	HGNC	protein_coding	OTTHUMT00000380913.1		0	27	0	C	NM_003756		117668098	-1			no_errors	ENST00000521861	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	117668098	C	T	117668098	3	4	144	1	0	0	0	0	1	0	0	0	5034	797	28	3	370	3	EIF3H	8	117668098	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	4368704	117668098	28695924	186	36589											
LRRC6	23639	genome.wustl.edu	37	chr8	133584607	133584607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggttgggtcttcctcacTtggtataattttgggttcag	8	16	11	6	0	3	0	2	0	1	0	4	0	4	0	1	4	0	3	1	4	3	8			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:133584607T>C	ENST00000519595.1	-	12	1446	c.1348A>G	c.(1348-1350)Agt>Ggt	p.S450G	LRRC6_ENST00000518642.1_3'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.S450G			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	450					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)			TCTTCCTCACTTGGTATAATT	0.473																																																	0													316	286	296					8																	133584607		2203	4300	6503	SO:0001583	missense	0			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.1348A>G	8.37:g.133584607T>C	ENSP00000429791:p.Ser450Gly		Q13648|Q4G183	Missense_Mutation	SNP	superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom	p.S450G	ENST00000519595.1	37	c.1348		8	.	.	.	.	.	.	.	.	.	.	T	1.863	-0.462147	0.04508	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000250173	T;T;T	0.50813	0.73;0.88;0.73	5.49	-0.37	0.12530	.	1.378510	0.04331	N	0.352286	T	0.30634	0.0771	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.09975	-1.0650	10	0.22706	T	0.39	-0.076	1.2006	0.01884	0.3776:0.0928:0.1428:0.3868	.	450	Q86X45	LRRC6_HUMAN	G	450;190;450	ENSP00000429791:S450G;ENSP00000428015:S190G;ENSP00000250173:S450G	ENSP00000250173:S450G	S	-	1	0	LRRC6	133653789	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.426000	0.07008	0.032000	0.15435	-0.290000	0.09829	AGT	LRRC6	-	NULL	ENSG00000129295		0.473	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	LRRC6	HGNC	protein_coding	OTTHUMT00000379578.1	-	0	48	0	T	NM_012472		133584607	-1	tier1	-	no_errors	ENST00000250173	ensembl	human	known	74_37	missense	13.25	72	11	SNP	0.000	C	C	133584607	T	C	133584607	3	2	144	1	0	0	0	0	1	0	0	0	9051	1609	56	4	56	4	LRRC6	8	133584607	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	15916509	133584607	12779415	187	36590											
ZFAT	57623	genome.wustl.edu	37	chr8	135490915	135490915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggacgcttgctggaccGtctcctggatcatgaccgtg	6	9	12	14	4	2	1	1	1	1	0	3	4	2	4	4	3	1	2	4	3	0	1	rs577332990		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:135490915G>A	ENST00000377838.3	-	16	3716	c.3542C>T	c.(3541-3543)aCg>aTg	p.T1181M	ZFAT_ENST00000520727.1_Missense_Mutation_p.T1169M|ZFAT_ENST00000520214.1_Missense_Mutation_p.T1169M|ZFAT_ENST00000520356.1_Missense_Mutation_p.T1083M|ZFAT_ENST00000523399.1_Missense_Mutation_p.T1119M|ZFAT_ENST00000429442.2_Silent_p.D1132D	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1181					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)			TTGCTGGACCGTCTCCTGGAT	0.642													g|||	1	0.000199681	0	0.0014	5008	,	,		19032	0		0	False		,,,				2504	0																0													21	24	23					8																	135490915		2057	4172	6229	SO:0001583	missense	0			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.3542C>T	8.37:g.135490915G>A	ENSP00000367069:p.Thr1181Met		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1181M	ENST00000377838.3	37	c.3542	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	N	20.3	3.964563	0.74131	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000377838;ENST00000520214;ENST00000521673;ENST00000318135;ENST00000523399	T;T;T;T;T	0.10192	2.9;2.92;2.91;2.92;2.93	5.19	5.19	0.71726	.	0.249276	0.40469	N	0.001093	T	0.19248	0.0462	N	0.24115	0.695	0.37439	D	0.914344	D;P;D;D	0.89917	0.998;0.73;0.99;1.0	P;B;B;P	0.61800	0.828;0.064;0.425;0.894	T	0.06356	-1.0831	10	0.52906	T	0.07	-15.9866	17.6918	0.88270	0.0:0.0:1.0:0.0	.	300;1119;1083;1181	B7Z741;E9PER3;E9PBN4;Q9P243	.;.;.;ZFAT_HUMAN	M	1083;1169;1181;1169;101;1068;1119	ENSP00000427879:T1083M;ENSP00000427831:T1169M;ENSP00000367069:T1181M;ENSP00000428483:T1169M;ENSP00000429091:T1119M	ENSP00000326997:T1068M	T	-	2	0	ZFAT	135560097	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	7.780000	0.85658	2.432000	0.82394	0.651000	0.88453	ACG	ZFAT	-	NULL	ENSG00000066827		0.642	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	-	0	39	0	G	NM_001029939		135490915	-1	tier1	-	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	A	A	135490915	G	A	135490915	3	1	144	1	0	0	0	0	1	0	0	0	17680	1145	40	1	193	1	ZFAT	8	135490915	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1906308	135490915	10873107	188	36591											
EPPK1	83481	genome.wustl.edu	37	chr8	144942890	144942890	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gcaggggctgcctctctgcaGcctcgaccagggtggtgact	5	8	15	13	1	1	1	0	1	1	0	3	2	1	1	3	4	3	3	3	4	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr8:144942890G>A	ENST00000525985.1	-	2	4603	c.4532C>T	c.(4531-4533)gCt>gTt	p.A1511V				P58107	EPIPL_HUMAN	epiplakin 1	1511						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)			CCTCTCTGCAGCCTCGACCAG	0.682																																																	0													11	13	13					8																	144942890		2072	4201	6273	SO:0001583	missense	0			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.4532C>T	8.37:g.144942890G>A	ENSP00000436337:p.Ala1511Val		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.A1511V	ENST00000525985.1	37	c.4532		8	.	.	.	.	.	.	.	.	.	.	G	2.768	-0.256413	0.05829	.	.	ENSG00000227184	ENST00000525985	T	0.67865	-0.29	4.54	-1.47	0.08772	.	.	.	.	.	T	0.55065	0.1897	L	0.34521	1.04	0.09310	N	1	B	0.24721	0.11	B	0.27887	0.084	T	0.41556	-0.9502	9	0.30078	T	0.28	.	14.8305	0.70146	0.0:0.0:0.3355:0.6645	.	1511	E9PPU0	.	V	1511	ENSP00000436337:A1511V	ENSP00000436337:A1511V	A	-	2	0	EPPK1	145014878	0.004000	0.15560	0.000000	0.03702	0.005000	0.04900	0.771000	0.26633	-0.368000	0.08040	-1.378000	0.01179	GCT	EPPK1	-	NULL	ENSG00000227184		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0	20	0	G	NM_031308		144942890	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.000	A	A	144942890	G	A	144942890	3	1	144	1	0	0	0	0	1	0	0	0	5206	971	34	3	2734	3	EPPK1	8	144942890	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	9451975	144942890	1421132	189	36592											
JAK2	3717	genome.wustl.edu	37	chr9	5069023	5069023	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataattaaacttatacagcGagaaaatgtcattgaatata	19	13	5	4	1	1	2	1	1	0	1	1	3	1	2	0	0	3	0	0	0	11	8			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:5069023G>T	ENST00000381652.3	+	11	1822	c.1328G>T	c.(1327-1329)cGa>cTa	p.R443L	JAK2_ENST00000544510.1_Splice_Site_p.R294L|JAK2_ENST00000539801.1_Splice_Site_p.R443L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	443	SH2; atypical. {ECO:0000255|PROSITE- ProRule:PRU00191}.	Breakpoint for translocation to form PCM1-JAK2 fusion protein.			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)	CTTATACAGCGAGAAAATGTC	0.328		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													54	60	58					9																	5069023		2203	4299	6502	SO:0001630	splice_region_variant	0	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.1327-1G>T	9.37:g.5069023G>T			O14636|O75297	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R443L	ENST00000381652.3	37	c.1328	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678745	0.29783	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.26373	1.74;1.74;1.74	5.02	3.19	0.36642	SH2 motif (4);	0.488046	0.20689	N	0.087500	T	0.17492	0.0420	N	0.25647	0.755	0.39592	D	0.969607	B	0.23442	0.085	B	0.26614	0.071	T	0.06972	-1.0797	10	0.30078	T	0.28	-2.4355	9.5014	0.39019	0.2283:0.0:0.7717:0.0	.	443	O60674	JAK2_HUMAN	L	443;443;294	ENSP00000440387:R443L;ENSP00000371067:R443L;ENSP00000443103:R294L	ENSP00000371067:R443L	R	+	2	0	JAK2	5059023	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	2.765000	0.47621	0.521000	0.28445	0.591000	0.81541	CGA	JAK2	-	pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_SH2	ENSG00000096968		0.328	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	-	0	56	0	G		Missense_Mutation	5069023	1	tier1	-	no_errors	ENST00000381652	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.984	T	T	5069023	G	T	5069023	5	4	144	1	0	0	0	0	0	0	1	0	7965	1072	37	2	1362	2	JAK2	9	5069023	Splice_Site	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09		5069023	136144408	190	36593											
CNTLN	54875	genome.wustl.edu	37	chr9	17457615	17457615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcacaagtttggcagaaGaaaattcccaggtaacattt	17	10	7	7	0	1	2	1	0	0	2	2	2	2	2	1	2	1	3	1	2	6	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:17457615G>A	ENST00000380647.3	+	19	3292	c.3208G>A	c.(3208-3210)Gaa>Aaa	p.E1070K	CNTLN_ENST00000262360.5_Missense_Mutation_p.E1070K|CNTLN_ENST00000425824.1_Missense_Mutation_p.E1070K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1070					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)		TTTGGCAGAAGAAAATTCCCA	0.363																																																	0													80	78	79					9																	17457615		1812	4074	5886	SO:0001583	missense	0			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.3208G>A	9.37:g.17457615G>A	ENSP00000370021:p.Glu1070Lys		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.E1070K	ENST00000380647.3	37	c.3208	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693006	0.30052	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18960	2.18;2.18;2.44	4.31	4.31	0.51392	.	.	.	.	.	T	0.32133	0.0819	L	0.50919	1.6	0.27690	N	0.946131	D;P;P	0.56035	0.974;0.728;0.728	P;B;B	0.56216	0.794;0.297;0.297	T	0.04347	-1.0958	9	0.25106	T	0.35	.	13.006	0.58705	0.0:0.1764:0.8236:0.0	.	1070;1070;1070	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	K	1070	ENSP00000370021:E1070K;ENSP00000392798:E1070K;ENSP00000262360:E1070K	ENSP00000262360:E1070K	E	+	1	0	CNTLN	17447615	0.421000	0.25465	0.994000	0.49952	0.726000	0.41606	1.438000	0.35002	2.691000	0.91804	0.585000	0.79938	GAA	CNTLN	-	NULL	ENSG00000044459		0.363	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	-	0	121	0	G	NM_017738		17457615	1	tier1	-	no_errors	ENST00000380647	ensembl	human	known	74_37	missense	25.75	124	43	SNP	0.950	A	A	17457615	G	A	17457615	3	1	144	1	0	0	0	0	1	0	0	0	3646	943	33	3	3312	3	CNTLN	9	17457615	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	12388592	17457615	123755816	191	36594											
SH3GL2	6456	genome.wustl.edu	37	chr9	17747117	17747117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaagctagatgatgacttCaaagagatggaaagggtaag	17	7	12	5	0	1	4	1	2	0	2	1	6	1	5	1	2	1	2	1	2	5	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:17747117C>T	ENST00000380607.4	+	2	219	c.99C>T	c.(97-99)ttC>ttT	p.F33F	SH3GL2_ENST00000537391.1_5'UTR	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	33	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		ATGATGACTTCAAAGAGATGG	0.398																																																	0													132	114	120					9																	17747117		2203	4300	6503	SO:0001819	synonymous_variant	0			X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.99C>T	9.37:g.17747117C>T			B2R618|Q9NQK5	Silent	SNP	pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.F33	ENST00000380607.4	37	c.99	CCDS6483.1	9																																																																																			SH3GL2	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000107295		0.398	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL2	HGNC	protein_coding	OTTHUMT00000051796.1	-	0	93	0	C	NM_003026		17747117	1	tier1	-	no_errors	ENST00000380607	ensembl	human	known	74_37	silent	36.61	71	41	SNP	1.000	T	T	17747117	C	T	17747117	2	4	144	1	0	0	0	0	0	0	0	1	14296	825	29	3		3	SH3GL2	9	17747117	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	289502	17747117	123466314	192	36595											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18770777	18770777	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctctcagactggacaGaggtatgtatgttcctccga	8	12	11	10	1	2	2	1	0	1	2	5	4	4	3	2	3	0	4	2	3	2	4	rs576805757		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:18770777G>T	ENST00000380548.4	+	17	2734	c.2395G>T	c.(2395-2397)Gag>Tag	p.E799*		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	799	TSP type-1 7. {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)		AGACTGGACAGAGGTATGTAT	0.463																																																	0													41	41	41					9																	18770777		1906	4126	6032	SO:0001587	stop_gained	0			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.2395G>T	9.37:g.18770777G>T	ENSP00000369921:p.Glu799*		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.E799*	ENST00000380548.4	37	c.2395	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	44	10.824876	0.99473	.	.	ENSG00000178031	ENST00000380548	.	.	.	5.19	4.27	0.50696	.	14.966700	0.04415	U	0.366688	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	12.0701	0.53611	0.0:0.4216:0.5784:0.0	.	.	.	.	X	799	.	ENSP00000369921:E799X	E	+	1	0	ADAMTSL1	18760777	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.055000	0.64282	2.446000	0.82766	0.609000	0.83330	GAG	ADAMTSL1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.463	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0	54	0	G			18770777	1	tier1	-	no_errors	ENST00000380548	ensembl	human	novel	74_37	nonsense	6.90	54	4	SNP	1.000	T	T	18770777	G	T	18770777	4	4	144	1	0	0	0	0	0	1	0	0	274	943	33	3	2465	3	ADAMTSL1	9	18770777	Nonsense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1023660	18770777	122442654	193	36596											
DENND4C	55667	genome.wustl.edu	37	chr9	19346068	19346068	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttttagttctgaaagtCgagcaggaatgttgcttaag	11	14	12	4	1	1	1	0	1	1	0	2	3	1	2	0	1	2	6	0	1	5	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:19346068C>A	ENST00000380432.2	+	18	2479	c.2446C>A	c.(2446-2448)Cga>Aga	p.R816R	DENND4C_ENST00000434457.2_Silent_p.R1101R|DENND4C_ENST00000602925.1_Silent_p.R1052R			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	816					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						TTCTGAAAGTCGAGCAGGAAT	0.403																																																	0													141	135	137					9																	19346068		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2446C>A	9.37:g.19346068C>A			A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R1052	ENST00000380432.2	37	c.3154		9																																																																																			DENND4C	-	NULL	ENSG00000137145		0.403	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		-	0	67	0	C	NM_017925		19346068	1	tier1	-	no_errors	ENST00000602925	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	A	A	19346068	C	A	19346068	2	1	144	1	0	0	0	0	0	0	0	1	4449	876	31	2		2	DENND4C	9	19346068	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	575291	19346068	121867363	194	36597											
CDKN2A	1029	genome.wustl.edu	37	chr9	21971175	21971175	+	Frame_Shift_Del	DEL	C	C	-																															gcgccgtggagcagcagcagCtccgccactcgggcgctgcc																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:21971175delC	ENST00000304494.5	-	2	453	c.183delG	c.(181-183)gagfs	p.E61fs	CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E61fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E61fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E61fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E10fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.A120fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E10fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.A79fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.A79fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E10fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E10fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.E10fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	61			EL -> DV.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(45)|p.E61fs*80(2)|p.E61fs*49(2)|p.V59fs*82(2)|p.E61fs*50(1)|p.L62fs*86(1)|p.E61fs*54(1)|p.0(1)|p.V28_V51del(1)|p.V59fs*45(1)|p.E61_L94del(1)|p.G116fs*>53(1)|p.L62del(1)|p.V59_G67del(1)|p.E61fs*55(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCAGCAGCTCCGCCACTC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1377	Whole gene deletion(1316)|Unknown(45)|Deletion - Frameshift(11)|Deletion - In frame(4)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(285)|skin(174)|central_nervous_system(167)|lung(146)|urinary_tract(92)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(56)|oesophagus(54)|pleura(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											7	8	8					9																	21971175		2089	4169	6258	SO:0001589	frameshift_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.183delG	9.37:g.21971175delC	ENSP00000307101:p.Glu61fs		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	pfam_Cyclin_kinase-Inhib_2A	p.A117fs	ENST00000304494.5	37	c.349	CCDS6510.1	9																																																																																			CDKN2A	-	NULL	ENSG00000147889		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0	13	0	C	NM_000077		21971175	-1	tier1		no_errors	ENST00000361570	ensembl	human	known	74_37	frame_shift_del	75.00	1	3	DEL	0.005	-	-	21971175	C	-	21971175	7	5	144	1	0	1	0	1	0	0	0	0	3168	797	28	0	295	0	CDKN2A	9	21971175	Frame_Shift_Del	DEL	C	TCGA-R6-A6XG-01B-11D-A33E-09	2625107	21971175	119242256	195	36598											
BAG1	573	genome.wustl.edu	37	chr9	33256871	33256871	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcctatcaagtttgcaGagagcttcagcttgcaaatc	11	12	7	11	0	3	1	2	0	1	1	5	2	3	1	1	0	4	5	1	0	3	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:33256871G>T	ENST00000379704.2	-	5	901	c.468C>A	c.(466-468)ctC>ctA	p.L156L	BAG1_ENST00000467389.2_5'UTR|BAG1_ENST00000472232.3_Silent_p.L271L			Q99933	BAG1_HUMAN	BCL2-associated athanogene	271	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			CAAGTTTGCAGAGAGCTTCAG	0.438																																					GBM(77;1066 1502 5858 12192)												0													141	127	132					9																	33256871		2203	4300	6503	SO:0001819	synonymous_variant	0			AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.468C>A	9.37:g.33256871G>T			O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Silent	SNP	pfam_BAG_domain,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_Ubiquitin_supergroup	p.L271	ENST00000379704.2	37	c.813	CCDS55301.1	9																																																																																			BAG1	-	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	ENSG00000107262		0.438	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG1	HGNC	protein_coding	OTTHUMT00000052042.3	-	0	70	0	G	NM_004323		33256871	-1	tier1	-	no_errors	ENST00000472232	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.999	T	T	33256871	G	T	33256871	2	4	144	1	0	0	0	0	0	0	0	1	1287	929	33	3		3	BAG1	9	33256871	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	11285696	33256871	107956560	196	36599											
CEP78	84131	genome.wustl.edu	37	chr9	80858446	80858446	+	Silent	SNP	C	C	T	0	0	0	1	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	tataggagacctgatcttgaCtgtatggctggcttaagacg	10	12	12	7	1	1	4	0	2	1	2	1	5	1	4	1	3	0	3	1	3	4	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:80858446C>T	ENST00000424347.2	+	5	961	c.672C>T	c.(670-672)gaC>gaT	p.D224D	CEP78_ENST00000415759.2_Silent_p.D224D|CEP78_ENST00000277082.5_Silent_p.D224D|CEP78_ENST00000376598.2_Silent_p.D224D|CEP78_ENST00000376597.4_Silent_p.D224D			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	224					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTGATCTTGACTGTATGGCTG	0.418																																																	0													157	150	152					9																	80858446		1950	4148	6098	SO:0001819	synonymous_variant	0			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 81"	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.672C>T	9.37:g.80858446C>T			A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D224	ENST00000424347.2	37	c.672		9																																																																																			CEP78	-	NULL	ENSG00000148019		0.418	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	HGNC	protein_coding	OTTHUMT00000052766.2	-	0	48	0	C	XM_095991		80858446	1	tier1	-	no_errors	ENST00000376597	ensembl	human	known	74_37	silent	26.98	46	17	SNP	0.752	T	T	80858446	C	T	80858446	2	4	144	1	0	0	0	0	0	0	0	1	3269	564	20	3		3	CEP78	9	80858446	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	47601575	80858446	60354985	197	36600											
OMD	4958	genome.wustl.edu	37	chr9	95177560	95177560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatctggaaatctcctGaaaacttgtgtctttagttg	10	16	7	8	0	5	1	2	1	3	0	6	2	5	2	1	1	1	1	1	1	4	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:95177560G>T	ENST00000375550.4	-	3	1415	c.1140C>A	c.(1138-1140)ttC>ttA	p.F380L	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	380					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GAAATCTCCTGAAAACTTGTG	0.408			T	USP6	aneurysmal bone cysts																																			Dom	yes		9	9q22.31	4958	osteomodulin		M	0													219	202	208					9																	95177560		2203	4300	6503	SO:0001583	missense	0			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8134	protein-coding gene	gene with protein product	"osteoadherin proteoglycan"						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.1140C>A	9.37:g.95177560G>T	ENSP00000364700:p.Phe380Leu		Q5TBF4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.F380L	ENST00000375550.4	37	c.1140	CCDS6696.1	9	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520688	0.44866	.	.	ENSG00000127083	ENST00000375550	T	0.33654	1.4	5.44	1.5	0.22942	.	0.076211	0.53938	D	0.000048	T	0.29524	0.0736	M	0.63428	1.95	0.30777	N	0.742437	B	0.22346	0.068	B	0.17979	0.02	T	0.17379	-1.0371	10	0.33940	T	0.23	-9.2033	5.9621	0.19305	0.3141:0.0:0.5583:0.1276	.	380	Q99983	OMD_HUMAN	L	380	ENSP00000364700:F380L	ENSP00000364700:F380L	F	-	3	2	OMD	94217381	0.035000	0.19736	0.863000	0.33907	0.904000	0.53231	0.045000	0.14013	0.348000	0.23949	0.555000	0.69702	TTC	OMD	-	NULL	ENSG00000127083		0.408	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMD	HGNC	protein_coding	OTTHUMT00000053090.1	-	0	48	0	G	NM_005014		95177560	-1	tier1	-	no_errors	ENST00000375550	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.916	T	T	95177560	G	T	95177560	3	4	144	1	0	0	0	0	1	0	0	0	10904	1281	45	3	129	3	OMD	9	95177560	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	14319114	95177560	46035871	198	36601											
GABBR2	9568	genome.wustl.edu	37	chr9	101056109	101056109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctataggatctttgcatgttCgagagggctctgttgtgttc	6	16	12	7	1	2	1	0	0	2	1	4	3	2	2	0	2	1	5	0	2	2	6	rs368856308		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:101056109C>T	ENST00000259455.2	-	18	3077	c.2618G>A	c.(2617-2619)cGa>cAa	p.R873Q		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	873					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTTGCATGTTCGAGAGGGCTC	0.398													C|||	1	0.000199681	0	0	5008	,	,		19417	0.001		0	False		,,,				2504	0																0													240	234	236					9																	101056109		2203	4300	6503	SO:0001583	missense	0			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2618G>A	9.37:g.101056109C>T	ENSP00000259455:p.Arg873Gln		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C	p.R873Q	ENST00000259455.2	37	c.2618	CCDS6736.1	9	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704803	0.68615	.	.	ENSG00000136928	ENST00000259455	T	0.80393	-1.37	5.1	5.1	0.69264	.	0.053754	0.64402	D	0.000001	T	0.59335	0.2186	N	0.14661	0.345	0.45025	D	0.99804	P	0.39782	0.688	B	0.25884	0.064	T	0.65573	-0.6135	10	0.54805	T	0.06	-10.0223	9.4348	0.38632	0.0:0.9058:0.0:0.0942	.	873	O75899	GABR2_HUMAN	Q	873	ENSP00000259455:R873Q	ENSP00000259455:R873Q	R	-	2	0	GABBR2	100095930	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.469000	0.66749	2.641000	0.89580	0.650000	0.86243	CGA	GABBR2	-	NULL	ENSG00000136928		0.398	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	-	0	69	0	C			101056109	-1	tier1	-	no_errors	ENST00000259455	ensembl	human	known	74_37	missense	79.12	19	72	SNP	0.997	T	T	101056109	C	T	101056109	3	4	144	1	0	0	0	0	1	0	0	0	6180	884	31	1	215	1	GABBR2	9	101056109	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	5878549	101056109	40157322	199	36602											
ANKS6	203286	genome.wustl.edu	37	chr9	101552791	101552791	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacccaggtggccgccccGagaagccacagtgagcacac	11	2	11	17	2	0	2	0	1	0	1	0	3	0	2	5	2	2	1	5	2	1	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:101552791G>T	ENST00000353234.4	-	2	504	c.457C>A	c.(457-459)Cgg>Agg	p.R153R	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Silent_p.R153R|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	153						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)				TGGCCGCCCCGAGAAGCCACA	0.632																																																	0													18	24	22					9																	101552791		2006	4162	6168	SO:0001819	synonymous_variant	0			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.457C>A	9.37:g.101552791G>T			A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.R153	ENST00000353234.4	37	c.457	CCDS43856.1	9																																																																																			ANKS6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000165138		0.632	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1		0	53	0	G	NM_173551		101552791	-1			no_errors	ENST00000375018	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T	T	101552791	G	T	101552791	2	4	144	1	0	0	0	0	0	0	0	1	692	1057	37	2		2	ANKS6	9	101552791	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	496682	101552791	39660640	200	36603											
STRBP	55342	genome.wustl.edu	37	chr9	125898332	125898332	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatacctgagggataatCttctttttcttattatttgc	9	19	5	8	0	4	1	1	1	3	0	4	2	4	2	1	1	2	0	1	1	4	8			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:125898332C>A	ENST00000348403.5	-	16	2190	c.1761G>T	c.(1759-1761)aaG>aaT	p.K587N	STRBP_ENST00000447404.2_Missense_Mutation_p.K587N|STRBP_ENST00000360998.3_Missense_Mutation_p.K573N	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	587	Poly-Lys.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GAGGGATAATCTTCTTTTTCT	0.403																																																	0													120	117	118					9																	125898332		2203	4300	6503	SO:0001583	missense	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"spermatid perinuclear RNA-binding protein", "interleukin enhancer binding factor 3-like"	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1761G>T	9.37:g.125898332C>A	ENSP00000321347:p.Lys587Asn		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.K587N	ENST00000348403.5	37	c.1761	CCDS6851.1	9	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391823	0.62066	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.19806	2.39;2.39;2.12	5.33	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	L	0.29908	0.895	0.45129	D	0.998149	P;D	0.53151	0.93;0.958	B;P	0.47346	0.342;0.544	T	0.01596	-1.1316	10	0.87932	D	0	-12.1788	9.6283	0.39763	0.0:0.7824:0.0:0.2176	.	587;573	Q96SI9;Q96SI9-2	STRBP_HUMAN;.	N	587;587;573	ENSP00000415968:K587N;ENSP00000321347:K587N;ENSP00000354271:K573N	ENSP00000321347:K587N	K	-	3	2	STRBP	124938153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.241000	0.43097	1.387000	0.46486	0.655000	0.94253	AAG	STRBP	-	NULL	ENSG00000165209		0.403	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRBP	HGNC	protein_coding	OTTHUMT00000053982.1	-	0	39	0	C			125898332	-1	tier1	-	no_errors	ENST00000348403	ensembl	human	known	74_37	missense	6.76	68	5	SNP	1.000	A	A	125898332	C	A	125898332	3	1	144	1	0	0	0	0	1	0	0	0	15374	912	32	3	273	3	STRBP	9	125898332	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	24345541	125898332	15315099	201	36604											
TBC1D13	54662	genome.wustl.edu	37	chr9	131565639	131565639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcggatcctgttcatctaCgccaagctcaaccctggcat	9	9	9	14	2	3	0	2	0	1	0	4	2	4	1	3	2	4	3	3	2	3	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr9:131565639C>T	ENST00000372648.5	+	8	804	c.654C>T	c.(652-654)taC>taT	p.Y218Y	TBC1D13_ENST00000539497.1_Silent_p.Y37Y|TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	218	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						TGTTCATCTACGCCAAGCTCA	0.542																																																	0													153	122	133					9																	131565639		2203	4300	6503	SO:0001819	synonymous_variant	0			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.654C>T	9.37:g.131565639C>T			A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Y218	ENST00000372648.5	37	c.654	CCDS6911.1	9																																																																																			TBC1D13	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000107021		0.542	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D13	HGNC	protein_coding	OTTHUMT00000054496.1	-	0	129	0	C	NM_018201		131565639	1	tier1	-	no_errors	ENST00000372648	ensembl	human	known	74_37	silent	80.36	22	90	SNP	0.361	T	T	131565639	C	T	131565639	2	4	144	1	0	0	0	0	0	0	0	1	15649	547	19	1		1	TBC1D13	9	131565639	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	5667307	131565639	9647792	202	36605											
ADARB2	105	genome.wustl.edu	37	chr10	1405543	1405543	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcacagcagccgccgtcGcccgtaggccgcggacagaa	8	2	15	16	7	0	1	0	0	0	1	1	2	0	2	4	3	2	3	4	3	2	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:1405543G>A	ENST00000381312.1	-	3	1082	c.757C>T	c.(757-759)Cga>Tga	p.R253*	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	253					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		AGCCGCCGTCGCCCGTAGGCC	0.801																																																	0													1	1	1					10																	1405543		444	1166	1610	SO:0001587	stop_gained	0			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.757C>T	10.37:g.1405543G>A	ENSP00000370713:p.Arg253*		B2RPJ5|Q5VUT6|Q5VW42	Nonsense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.R253*	ENST00000381312.1	37	c.757	CCDS7058.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.039383	0.97226	.	.	ENSG00000185736	ENST00000381312	.	.	.	5.05	3.12	0.35913	.	0.892480	0.09924	N	0.738080	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-3.7979	13.6519	0.62316	0.0:0.0:0.7174:0.2826	.	.	.	.	X	253	.	ENSP00000370713:R253X	R	-	1	2	ADARB2	1395543	0.131000	0.22433	0.014000	0.15608	0.011000	0.07611	2.126000	0.42026	0.482000	0.27582	-0.500000	0.04577	CGA	ADARB2	-	NULL	ENSG00000185736		0.801	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	HGNC	protein_coding	OTTHUMT00000046426.1		0	8	0	G	NM_018702		1405543	-1			no_errors	ENST00000381312	ensembl	human	known	74_37	nonsense	60.00	2	3	SNP	0.960	A	A	1405543	G	A	1405543	4	1	144	1	0	0	0	0	0	1	0	0	283	1095	38	1	1494	1	ADARB2	10	1405543	Nonsense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09		1405543	134129204	203	36606											
DNAJC1	64215	genome.wustl.edu	37	chr10	22208783	22208783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttttttctgaagcacCgagttttgatacatccacac	10	16	5	10	1	2	2	1	2	1	0	3	3	3	2	2	0	2	2	2	0	2	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:22208783C>T	ENST00000376980.3	-	5	903	c.613G>A	c.(613-615)Ggt>Agt	p.G205S		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	205					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCTGAAGCACCGAGTTTTGAT	0.289																																																	0													140	145	143					10																	22208783		2202	4297	6499	SO:0001583	missense	0			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.613G>A	10.37:g.22208783C>T	ENSP00000366179:p.Gly205Ser		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.G205S	ENST00000376980.3	37	c.613	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	C	9.846	1.192440	0.21954	.	.	ENSG00000136770	ENST00000376980	T	0.39997	1.05	5.91	2.65	0.31530	.	0.651159	0.17323	N	0.178409	T	0.21186	0.0510	N	0.25647	0.755	0.58432	D	0.999998	P	0.45986	0.87	B	0.30716	0.119	T	0.06516	-1.0822	10	0.09843	T	0.71	-2.8678	12.1983	0.54311	0.0:0.7848:0.0:0.2152	.	205	Q96KC8	DNJC1_HUMAN	S	205	ENSP00000366179:G205S	ENSP00000366179:G205S	G	-	1	0	DNAJC1	22248789	0.997000	0.39634	0.989000	0.46669	0.977000	0.68977	1.066000	0.30604	0.846000	0.35142	0.650000	0.86243	GGT	DNAJC1	-	NULL	ENSG00000136770		0.289	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	-	0	23	0	C	NM_022365		22208783	-1	tier1	-	no_errors	ENST00000376980	ensembl	human	known	74_37	missense	64.44	15	29	SNP	0.933	T	T	22208783	C	T	22208783	3	4	144	1	0	0	0	0	1	0	0	0	4642	652	23	1	1083	1	DNAJC1	10	22208783	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	20803240	22208783	113325964	204	36607											
BMS1	9790	genome.wustl.edu	37	chr10	43292424	43292424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagctctccccactttcGattctgggcattgcacagct	8	11	8	14	1	2	0	0	0	2	0	4	1	2	0	2	1	4	5	2	1	1	3	rs375201810		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:43292424G>T	ENST00000374518.5	+	10	1795	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	578					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						CCCCACTTTCGATTCTGGGCA	0.468																																																	0													85	81	82					10																	43292424		2203	4300	6503	SO:0001583	missense	0			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.1732G>T	10.37:g.43292424G>T	ENSP00000363642:p.Asp578Tyr		Q5QPT5|Q86XJ9	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN	p.D578Y	ENST00000374518.5	37	c.1732	CCDS7199.1	10	.	.	.	.	.	.	.	.	.	.	g	14.86	2.661979	0.47572	.	.	ENSG00000165733	ENST00000374518	T	0.27256	1.68	4.79	4.79	0.61399	.	0.196868	0.43579	D	0.000548	T	0.43456	0.1248	L	0.36672	1.1	0.49582	D	0.999803	D	0.89917	1.0	D	0.91635	0.999	T	0.41342	-0.9514	10	0.72032	D	0.01	.	18.2534	0.90011	0.0:0.0:1.0:0.0	.	578	Q14692	BMS1_HUMAN	Y	578	ENSP00000363642:D578Y	ENSP00000363642:D578Y	D	+	1	0	BMS1	42612430	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	5.862000	0.69560	2.381000	0.81170	0.549000	0.68633	GAT	BMS1	-	superfamily_P-loop_NTPase	ENSG00000165733		0.468	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	HGNC	protein_coding	OTTHUMT00000047690.2		0	55	0	G	NM_014753		43292424	1			no_errors	ENST00000374518	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	43292424	G	T	43292424	3	4	144	1	0	0	0	0	1	0	0	0	1474	1058	37	2	1766	2	BMS1	10	43292424	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	21083641	43292424	92242323	205	36608											
ZNF32	7580	genome.wustl.edu	37	chr10	44139834	44139834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cttctctgacaaatagcacaCtcgtagggtttctgtccagt	9	13	8	11	1	2	1	0	1	2	0	5	1	3	1	1	1	1	3	1	1	3	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:44139834C>A	ENST00000395797.1	-	3	674	c.486G>T	c.(484-486)gaG>gaT	p.E162D	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.E162D	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		AAATAGCACACTCGTAGGGTT	0.488																																																	0													106	104	105					10																	44139834		2203	4300	6503	SO:0001583	missense	0			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"Zinc fingers, C2H2-type"	13095	protein-coding gene	gene with protein product		194539	"zinc finger protein 32 (KOX 30)"				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.486G>T	10.37:g.44139834C>A	ENSP00000379143:p.Glu162Asp		Q92951	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E162D	ENST00000395797.1	37	c.486	CCDS7206.1	10	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665959	0.47677	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.07688	3.17;3.17	4.52	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000142	T	0.06188	0.0160	L	0.33293	1	0.09310	N	0.99999	B	0.23650	0.089	B	0.27262	0.078	T	0.30534	-0.9975	10	0.72032	D	0.01	-17.7149	3.8366	0.08897	0.1675:0.5582:0.0:0.2743	.	162	P17041	ZNF32_HUMAN	D	162	ENSP00000363556:E162D;ENSP00000379143:E162D	ENSP00000363556:E162D	E	-	3	2	ZNF32	43459840	0.000000	0.05858	0.924000	0.36721	0.981000	0.71138	-1.624000	0.02038	0.383000	0.24910	0.655000	0.94253	GAG	ZNF32	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169740		0.488	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF32	HGNC	protein_coding	OTTHUMT00000047723.1	-	0	65	0	C	NM_006973		44139834	-1	tier1	-	no_errors	ENST00000374433	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.028	A	A	44139834	C	A	44139834	3	1	144	1	0	0	0	0	1	0	0	0	17886	564	20	3	339	3	ZNF32	10	44139834	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	847410	44139834	91394913	206	36609											
C10orf71	118461	genome.wustl.edu	37	chr10	50533993	50533993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcggcagaagacctcCggaccctctctccaagaggt	9	7	11	14	2	1	3	0	0	1	3	5	4	3	4	4	3	1	2	4	3	2	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:50533993C>T	ENST00000374144.3	+	3	3691	c.3403C>T	c.(3403-3405)Cgg>Tgg	p.R1135W	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1135										endometrium(1)	1						AGAAGACCTCCGGACCCTCTC	0.637																																																	0													26	32	30					10																	50533993		692	1591	2283	SO:0001583	missense	0			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.3403C>T	10.37:g.50533993C>T	ENSP00000363259:p.Arg1135Trp		A0AVL8	Missense_Mutation	SNP	NULL	p.R1135W	ENST00000374144.3	37	c.3403	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250046	0.59212	.	.	ENSG00000177354	ENST00000374144	T	0.05319	3.46	5.35	0.364	0.16124	.	0.177419	0.26669	N	0.023117	T	0.07188	0.0182	L	0.32530	0.975	0.09310	N	0.999994	.	.	.	.	.	.	T	0.22765	-1.0207	8	0.51188	T	0.08	.	10.5223	0.44927	0.4187:0.4913:0.0:0.09	.	.	.	.	W	1135	ENSP00000363259:R1135W	ENSP00000363259:R1135W	R	+	1	2	C10orf71	50203999	0.000000	0.05858	0.024000	0.17045	0.172000	0.22775	-0.013000	0.12678	-0.156000	0.11079	0.491000	0.48974	CGG	C10orf71	-	NULL	ENSG00000177354		0.637	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	-	0	91	0	C	NM_199459		50533993	1	tier1	-	no_errors	ENST00000374144	ensembl	human	known	74_37	missense	35.56	28	16	SNP	0.000	T	T	50533993	C	T	50533993	3	4	144	1	0	0	0	0	1	0	0	0	1619	643	23	1	3405	1	C10orf71	10	50533993	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	6394159	50533993	85000754	207	36610											
ASAH2	56624	genome.wustl.edu	37	chr10	52005058	52005058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccactgaagttctgaaatAgaggagactctggggttaaa	14	9	12	6	0	2	4	0	2	2	2	2	5	2	4	1	3	1	2	1	3	5	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:52005058A>G	ENST00000395526.4	-	2	283	c.284T>C	c.(283-285)cTa>cCa	p.L95P	ASAH2_ENST00000447815.1_Missense_Mutation_p.L95P|ASAH2_ENST00000329428.6_Missense_Mutation_p.L76P	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	95					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						GTTCTGAAATAGAGGAGACTC	0.512																																																	0													176	180	179					10																	52005058		2203	4300	6503	SO:0001583	missense	0			AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.284T>C	10.37:g.52005058A>G	ENSP00000378897:p.Leu95Pro		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	pfam_Ceramidase_alk	p.L95P	ENST00000395526.4	37	c.284	CCDS7239.2	10	.	.	.	.	.	.	.	.	.	.	A	9.421	1.083076	0.20309	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.32023	1.48;1.47;1.47	5.31	0.253	0.15551	.	1.149980	0.06310	N	0.702538	T	0.20820	0.0501	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.29549	-1.0008	10	0.27082	T	0.32	.	9.0457	0.36345	0.5581:0.0:0.4419:0.0	.	95;95	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	P	95;95;76	ENSP00000378897:L95P;ENSP00000388206:L95P;ENSP00000329886:L76P	ENSP00000329886:L76P	L	-	2	0	ASAH2	51675064	0.028000	0.19301	0.000000	0.03702	0.210000	0.24377	1.589000	0.36644	0.041000	0.15688	0.533000	0.62120	CTA	ASAH2	-	NULL	ENSG00000188611		0.512	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH2	HGNC	protein_coding	OTTHUMT00000048061.3	-	0	95	0	A	NM_019893		52005058	-1	tier1	-	no_errors	ENST00000395526	ensembl	human	known	74_37	missense	5.19	128	7	SNP	0.000	G	G	52005058	A	G	52005058	3	3	144	1	0	0	0	0	1	0	0	0	1008	420	15	4	2134	4	ASAH2	10	52005058	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	1471065	52005058	83529689	208	36611											
PCDH15	65217	genome.wustl.edu	37	chr10	56423985	56423985	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcccaggatgatccctGaagctaaacatgtccagaga	14	6	11	10	0	0	4	0	2	0	2	2	7	2	5	3	1	3	1	3	1	3	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:56423985G>T	ENST00000320301.6	-	2	432	c.38C>A	c.(37-39)tCa>tAa	p.S13*	PCDH15_ENST00000395445.1_Nonsense_Mutation_p.S13*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.S13*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.S13*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.S13*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.S13*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.S13*|PCDH15_ENST00000395442.1_Nonsense_Mutation_p.S13*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.S13*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.S13*|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.S13*|PCDH15_ENST00000395440.1_Nonsense_Mutation_p.S13*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.S13*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.S13*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.S13*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	13					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGATCCCTGAAGCTAAACA	0.398										HNSCC(58;0.16)																																							0													85	76	79					10																	56423985		2203	4300	6503	SO:0001587	stop_gained	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.38C>A	10.37:g.56423985G>T	ENSP00000322604:p.Ser13*		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S13*	ENST00000320301.6	37	c.38	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.327478	0.97476	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	.	.	.	5.8	-0.00993	0.13998	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5102	0.07705	0.4844:0.0:0.3243:0.1913	.	.	.	.	X	13	.	ENSP00000322604:S13X	S	-	2	0	PCDH15	56093991	0.047000	0.20315	0.002000	0.10522	0.672000	0.39443	1.327000	0.33746	0.080000	0.16959	0.491000	0.48974	TCA	PCDH15	-	NULL	ENSG00000150275		0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	43	0	G	NM_033056		56423985	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	nonsense	12.12	29	4	SNP	0.002	T	T	56423985	G	T	56423985	4	4	144	1	0	0	0	0	0	1	0	0	11550	1294	45	3	7620	3	PCDH15	10	56423985	Nonsense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	4418927	56423985	79110762	209	36612											
FAM13C	220965	genome.wustl.edu	37	chr10	61012606	61012606	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagagctggtggttttacTtctttcttttcatctggtaa	7	18	10	6	0	4	1	1	0	3	1	4	3	4	1	0	3	2	3	0	3	2	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:61012606T>G	ENST00000373868.2	-	12	1572	c.1485A>C	c.(1483-1485)gaA>gaC	p.E495D	FAM13C_ENST00000468840.2_Missense_Mutation_p.E412D|FAM13C_ENST00000442566.3_Missense_Mutation_p.E516D|FAM13C_ENST00000277705.6_Missense_Mutation_p.E515D|FAM13C_ENST00000373867.3_Missense_Mutation_p.E411D|FAM13C_ENST00000419214.2_Missense_Mutation_p.E397D|FAM13C_ENST00000435852.2_Missense_Mutation_p.E495D	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	495										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						GTGGTTTTACTTCTTTCTTTT	0.453																																																	0													171	150	157					10																	61012606		2203	4300	6503	SO:0001583	missense	0			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.1485A>C	10.37:g.61012606T>G	ENSP00000362975:p.Glu495Asp		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.E495D	ENST00000373868.2	37	c.1485	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612502	0.46631	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852	T;T;T;T;T	0.46819	0.88;0.89;0.86;0.88;0.86	5.72	3.34	0.38264	.	0.171243	0.38605	N	0.001636	T	0.50086	0.1595	L	0.60455	1.87	0.21861	N	0.999503	D;B;P;D	0.57899	0.981;0.134;0.955;0.981	P;B;P;P	0.54889	0.763;0.027;0.636;0.604	T	0.36359	-0.9751	10	0.36615	T	0.2	-21.0341	5.1247	0.14878	0.2988:0.0793:0.0:0.6219	.	495;411;397;495	B7Z2K3;B7ZB77;Q8NE31-3;Q8NE31	.;.;.;FA13C_HUMAN	D	411;495;516;515;397;412;495	ENSP00000362975:E495D;ENSP00000395661:E516D;ENSP00000277705:E515D;ENSP00000391993:E397D;ENSP00000392302:E495D	ENSP00000277705:E515D	E	-	3	2	FAM13C	60682612	0.998000	0.40836	0.952000	0.39060	0.994000	0.84299	0.849000	0.27723	1.083000	0.41159	0.533000	0.62120	GAA	FAM13C	-	NULL	ENSG00000148541		0.453	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	-	0	70	0	T			61012606	-1	tier1	-	no_errors	ENST00000373868	ensembl	human	known	74_37	missense	9.64	75	8	SNP	0.439	G	G	61012606	T	G	61012606	3	3	144	1	0	0	0	0	1	0	0	0	5473	1606	56	4	284	4	FAM13C	10	61012606	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	4588621	61012606	74522141	210	36613											
RTKN2	219790	genome.wustl.edu	37	chr10	63983041	63983041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcttgaaactatcctcaGcactttccaaggttagggta	10	12	10	9	0	2	1	1	1	1	0	4	1	4	1	2	3	2	3	2	3	5	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:63983041G>T	ENST00000373789.3	-	7	833	c.737C>A	c.(736-738)gCt>gAt	p.A246D	RTKN2_ENST00000395265.1_Missense_Mutation_p.A246D|RTKN2_ENST00000315289.2_Missense_Mutation_p.A27D	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	246					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)					ACTATCCTCAGCACTTTCCAA	0.289																																																	0													124	123	124					10																	63983041		2203	4298	6501	SO:0001583	missense	0			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.737C>A	10.37:g.63983041G>T	ENSP00000362894:p.Ala246Asp		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A246D	ENST00000373789.3	37	c.737	CCDS7263.1	10	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754412	0.69648	.	.	ENSG00000182010	ENST00000315289;ENST00000395265;ENST00000373789	T;T;T	0.51071	0.72;0.84;0.84	5.84	4.0	0.46444	.	0.468130	0.26424	N	0.024452	T	0.51839	0.1698	M	0.64997	1.995	0.47009	D	0.999283	D;P	0.56287	0.975;0.782	P;P	0.50754	0.649;0.506	T	0.53676	-0.8405	10	0.87932	D	0	-8.8579	8.3588	0.32346	0.2973:0.0:0.7027:0.0	.	27;246	Q5SVY4;Q8IZC4	.;RTKN2_HUMAN	D	27;246;246	ENSP00000325379:A27D;ENSP00000378682:A246D;ENSP00000362894:A246D	ENSP00000325379:A27D	A	-	2	0	RTKN2	63653047	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.187000	0.32090	0.826000	0.34661	0.557000	0.71058	GCT	RTKN2	-	NULL	ENSG00000182010		0.289	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1	-	0	41	0	G	NM_145307		63983041	-1	tier1	-	no_errors	ENST00000373789	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.997	T	T	63983041	G	T	63983041	3	4	144	1	0	0	0	0	1	0	0	0	13768	971	34	3	1116	3	RTKN2	10	63983041	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2970435	63983041	71551706	211	36614											
JMJD1C	221037	genome.wustl.edu	37	chr10	64967532	64967532	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacagatgccatagcagcCtgtaactttccgctgctttt	9	13	8	11	1	0	2	0	1	0	1	1	2	1	2	3	0	5	4	3	0	2	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:64967532C>T	ENST00000399262.2	-	10	4115	c.3897G>A	c.(3895-3897)caG>caA	p.Q1299Q	JMJD1C_ENST00000402544.1_Silent_p.Q1080Q|JMJD1C_ENST00000399251.1_Silent_p.Q1080Q|JMJD1C_ENST00000542921.1_Silent_p.Q1117Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1299					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)					CCATAGCAGCCTGTAACTTTC	0.418																																																	0													121	119	120					10																	64967532		1920	4124	6044	SO:0001819	synonymous_variant	0			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.3897G>A	10.37:g.64967532C>T			A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.Q1299	ENST00000399262.2	37	c.3897	CCDS41532.1	10																																																																																			JMJD1C	-	NULL	ENSG00000171988		0.418	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	-	0	29	0	C	NM_004241		64967532	-1	tier1	-	no_errors	ENST00000399262	ensembl	human	known	74_37	silent	20.00	48	12	SNP	0.941	T	T	64967532	C	T	64967532	2	4	144	1	0	0	0	0	0	0	0	1	7977	680	24	3		3	JMJD1C	10	64967532	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	984491	64967532	70567215	212	36615											
NPFFR1	64106	genome.wustl.edu	37	chr10	72020484	72020484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcttgcatgtggcattgtCgaagggccaccctgcaatga	9	10	11	11	1	1	1	0	1	1	0	2	2	1	1	2	2	2	3	2	2	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:72020484C>T	ENST00000277942.6	-	3	333	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	112					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						GTGGCATTGTCGAAGGGCCAC	0.577																																																	0													40	45	44					10																	72020484		2035	4190	6225	SO:0001583	missense	0			AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	17425	protein-coding gene	gene with protein product	"neuropeptide FF 1"	607448	"G protein-coupled receptor 147"	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.334G>A	10.37:g.72020484C>T	ENSP00000277942:p.Asp112Asn		A2RRF0|Q8NGR0|Q96RN3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_1,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.D112N	ENST00000277942.6	37	c.334	CCDS53539.1	10	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747740	0.89663	.	.	ENSG00000148734	ENST00000449957;ENST00000277942	T;T	0.36340	1.26;1.26	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.301220	0.36066	N	0.002818	T	0.42921	0.1224	L	0.37800	1.135	0.53688	D	0.99997	D	0.64830	0.994	P	0.53954	0.738	T	0.43360	-0.9396	10	0.72032	D	0.01	.	16.0624	0.80847	0.0:1.0:0.0:0.0	.	112	Q9GZQ6	NPFF1_HUMAN	N	110;112	ENSP00000401171:D110N;ENSP00000277942:D112N	ENSP00000277942:D112N	D	-	1	0	NPFFR1	71690490	0.992000	0.36948	0.998000	0.56505	0.994000	0.84299	2.387000	0.44389	2.415000	0.81967	0.563000	0.77884	GAC	NPFFR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt	ENSG00000148734		0.577	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NPFFR1	HGNC	protein_coding	OTTHUMT00000048504.2	-	0	35	0	C	NM_022146		72020484	-1	tier1	-	no_errors	ENST00000277942	ensembl	human	novel	74_37	missense	25.81	23	8	SNP	1.000	T	T	72020484	C	T	72020484	3	4	144	1	0	0	0	0	1	0	0	0	10616	884	31	1	965	1	NPFFR1	10	72020484	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	7052952	72020484	63514263	213	36616											
KIAA1274	27143	genome.wustl.edu	37	chr10	72298676	72298676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgatctggtctccccggacgCgctcagcactgtcagagaga	8	7	12	14	4	4	2	2	0	2	2	5	5	4	3	2	2	1	2	2	2	0	0	rs141292267	byFrequency	TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:72298676C>T	ENST00000263563.6	+	13	1749	c.1481C>T	c.(1480-1482)gCg>gTg	p.A494V		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	494						cytosol (GO:0005829)											TCCCCGGACGCGCTCAGCACT	0.682																																																	0								C	VAL/ALA	0,4406		0,0,2203	58	63	61		1481	4	0.1	10	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KIAA1274	NM_014431.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	494/857	72298676	2,13004	2203	4300	6503	SO:0001583	missense	0			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.1481C>T	10.37:g.72298676C>T	ENSP00000263563:p.Ala494Val		B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	smart_Tyr_Pase_cat	p.A494V	ENST00000263563.6	37	c.1481	CCDS31215.1	10	.	.	.	.	.	.	.	.	.	.	c	1.251	-0.618649	0.03663	0.0	2.33E-4	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.28255	1.62	5.01	3.98	0.46160	.	0.056377	0.64402	D	0.000001	T	0.10895	0.0266	N	0.11560	0.145	0.33411	D	0.578633	B	0.18461	0.028	B	0.12156	0.007	T	0.29027	-1.0025	10	0.02654	T	1	-20.0994	3.4805	0.07601	0.0:0.6141:0.0:0.3859	.	494	Q9ULE6	PALD_HUMAN	V	494	ENSP00000263563:A494V	ENSP00000263563:A494V	A	+	2	0	KIAA1274	71968682	0.995000	0.38212	0.055000	0.19348	0.060000	0.15804	2.820000	0.48057	2.318000	0.78349	0.542000	0.68232	GCG	PALD1	-	NULL	ENSG00000107719		0.682	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	HGNC	protein_coding	OTTHUMT00000048515.2	-	0	64	0	C	NM_014431		72298676	1	tier1	rs141292267	no_errors	ENST00000263563	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.989	T	T	72298676	C	T	72298676	3	4	144	1	0	0	0	0	1	0	0	0	8247	768	27	1	1527	1	KIAA1274	10	72298676	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	278192	72298676	63236071	214	36617											
DUSP13	51207	genome.wustl.edu	37	chr10	76863737	76863737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aggctctagggccgaccccaCgctgggcttccaccatcttc	6	8	10	17	2	2	0	0	0	2	0	4	1	3	0	5	3	0	3	5	3	1	3	rs576003204		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:76863737C>T	ENST00000491677.2	-	4	748	c.206G>A	c.(205-207)cGt>cAt	p.R69H	DUSP13_ENST00000607131.1_Missense_Mutation_p.R33H|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Intron	NM_001007271.1	NP_001007272.1	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	172					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCGACCCCACGCTGGGCTTC	0.652													C|||	1	0.000199681	8e-04	0	5008	,	,		19622	0		0	False		,,,				2504	0				NSCLC(174;1655 2059 12324 40663 42963)												0													34	35	35					10																	76863737		2196	4297	6493	SO:0001583	missense	0			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000491677.2:c.206G>A	10.37:g.76863737C>T	ENSP00000436312:p.Arg69His		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.R69H	ENST00000491677.2	37	c.206		10	.	.	.	.	.	.	.	.	.	.	C	9.760	1.169866	0.21621	.	.	ENSG00000079393	ENST00000491677;ENST00000372698	T	0.04275	3.66	4.0	-0.0252	0.13936	.	2.957090	0.01171	N	0.006873	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41288	-0.9517	10	0.18276	T	0.48	.	6.652	0.22967	0.0:0.575:0.0:0.425	.	69	F2Z2C4	.	H	69;33	ENSP00000436312:R69H	ENSP00000361783:R33H	R	-	2	0	DUSP13	76533743	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.676000	0.05221	-0.089000	0.12484	-0.742000	0.03525	CGT	DUSP13	-	NULL	ENSG00000079393		0.652	DUSP13-201	KNOWN	basic|appris_candidate_longest	protein_coding	DUSP13	HGNC	protein_coding		-	0	113	0	C			76863737	-1	tier1	-	no_errors	ENST00000491677	ensembl	human	known	74_37	missense	29.55	62	26	SNP	0.000	T	T	76863737	C	T	76863737	3	4	144	1	0	0	0	0	1	0	0	0	4827	536	19	1	797	1	DUSP13	10	76863737	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	4565061	76863737	58671010	215	36618											
KCNMA1	3778	genome.wustl.edu	37	chr10	78799285	78799285	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccagttaaaggtcacttaCtcacaaacagtagggaagga	16	8	9	8	0	2	0	2	0	0	0	3	2	3	2	1	3	2	2	1	3	6	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:78799285C>T	ENST00000286628.8	-	15	1859		c.e15+1		KCNMA1_ENST00000404857.1_Splice_Site|KCNMA1_ENST00000372443.1_Splice_Site|KCNMA1_ENST00000372440.1_Splice_Site|KCNMA1_ENST00000406533.3_Splice_Site|KCNMA1_ENST00000286627.5_Splice_Site|KCNMA1_ENST00000354353.5_Splice_Site|KCNMA1_ENST00000404771.3_Splice_Site	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						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)	AGGTCACTTACTCACAAACAG	0.473																																																	0													192	162	172					10																	78799285		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1859+1G>A	10.37:g.78799285C>T			F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Splice_Site	SNP	-	e15+1	ENST00000286628.8	37	c.1859+1		10	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931646	0.92389	.	.	ENSG00000156113	ENST00000372421;ENST00000372440;ENST00000372403;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000434208;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708;ENST00000450795;ENST00000428546	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8759	0.96870	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNMA1	78469291	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.653000	0.83643	2.704000	0.92352	0.585000	0.79938	.	KCNMA1	-	-	ENSG00000156113		0.473	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0	36	0	C	NM_002247	Intron	78799285	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	splice_site	30.77	36	16	SNP	1.000	T	T	78799285	C	T	78799285	5	4	144	1	0	0	0	0	0	0	1	0	8100	579	20	3	2078	3	KCNMA1	10	78799285	Splice_Site	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	1935548	78799285	56735462	216	36619											
BMPR1A	657	genome.wustl.edu	37	chr10	88649838	88649838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacagaatctggatagtatGcttcatggcactgggatgaa	12	10	13	6	0	2	2	1	1	1	1	2	5	2	5	0	4	1	3	0	4	4	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:88649838G>T	ENST00000372037.3	+	4	624	c.87G>T	c.(85-87)atG>atT	p.M29I	BMPR1A_ENST00000480152.1_3'UTR|RNU1-19P_ENST00000363306.1_RNA	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	29					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TGGATAGTATGCTTCATGGCA	0.363			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)		yes	Rec		Juvenile polyposis	10	10q22.3	657	"bone morphogenetic protein receptor, type IA"		E	0													101	96	98					10																	88649838		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.87G>T	10.37:g.88649838G>T	ENSP00000361107:p.Met29Ile		A8K6U9|Q8NEN8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M29I	ENST00000372037.3	37	c.87	CCDS7378.1	10	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744820	0.49151	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.82433	-1.61	6.01	2.97	0.34412	.	0.450080	0.28778	N	0.014172	T	0.73094	0.3543	L	0.27053	0.805	0.44181	D	0.996993	B	0.14012	0.009	B	0.14023	0.01	T	0.72214	-0.4358	10	0.62326	D	0.03	.	12.879	0.58006	0.0:0.1094:0.6649:0.2257	.	29	P36894	BMR1A_HUMAN	I	29	ENSP00000361107:M29I	ENSP00000224764:M29I	M	+	3	0	BMPR1A	88639818	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.480000	0.45206	1.506000	0.48736	0.650000	0.86243	ATG	BMPR1A	-	NULL	ENSG00000107779		0.363	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1A	HGNC	protein_coding	OTTHUMT00000049170.3	-	0	51	0	G	NM_004329		88649838	1	tier1	-	no_errors	ENST00000372037	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T	T	88649838	G	T	88649838	3	4	144	1	0	0	0	0	1	0	0	0	1471	1319	46	3	93	3	BMPR1A	10	88649838	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	9850553	88649838	46884909	217	36620											
HTR7	3363	genome.wustl.edu	37	chr10	92502287	92502288	+	Splice_Site	INS	-	-	A																															cagtagtcagcattttgtctINSaaaaaaaagagagagaaaaa																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:92502287_92502288insA	ENST00000336152.3	-	4	1420		c.e4-2		HTR7_ENST00000371721.3_Splice_Site|HTR7_ENST00000371719.2_Splice_Site|HTR7_ENST00000277874.6_Splice_Site	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled						blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GCATTTTGTCTAAAAAAAAGAG	0.307																																																	0																																										SO:0001630	splice_region_variant	0			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1394-2->T	10.37:g.92502295_92502295dupA			B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Splice_Site	INS	-	e4-2	ENST00000336152.3	37	c.1394-3_1394-2	CCDS7408.1	10																																																																																			HTR7	-	-	ENSG00000148680		0.307	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	HGNC	protein_coding	OTTHUMT00000049343.1		0	18	0	-	NM_000872	Intron	92502288	-1	tier1		no_errors	ENST00000336152	ensembl	human	known	74_37	splice_site_ins	9.09	20	2	INS	0.999:0.019	A	A	92502288	-	A	92502287	8	5	144	1	0	1	1	0	0	0	1	0	7479	1536	53	0	51	0	HTR7	10	92502287	Splice_Site	INS	-	TCGA-R6-A6XG-01B-11D-A33E-09	3852449	92502287	43032460	218	36621											
PDE6C	5146	genome.wustl.edu	37	chr10	95418860	95418860	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttttgttttcttcctaaGggcaatgatgatgacggcat	9	17	9	6	1	1	3	0	3	1	0	2	3	2	3	1	2	0	3	1	2	2	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:95418860G>T	ENST00000371447.3	+	18	2282		c.e18-1			NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime						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)	TTCTTCCTAAGGGCAATGATG	0.338																																																	0													106	94	98					10																	95418860		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2145-1G>T	10.37:g.95418860G>T			A6NCR6|Q5VY29	Splice_Site	SNP	-	e18-1	ENST00000371447.3	37	c.2145-1	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298767	0.81025	.	.	ENSG00000095464	ENST00000371447	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7906	0.88551	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE6C	95408850	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.150000	0.94667	2.742000	0.94016	0.591000	0.81541	.	PDE6C	-	-	ENSG00000095464		0.338	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1		0	65	0	G	NM_006204	Intron	95418860	1			no_errors	ENST00000371447	ensembl	human	known	74_37	splice_site	5.56	68	4	SNP	1.000	T	T	95418860	G	T	95418860	5	4	144	1	0	0	0	0	0	0	1	0	11686	1014	35	3	2214	3	PDE6C	10	95418860	Splice_Site	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2916573	95418860	40115887	219	36622											
CHUK	1147	genome.wustl.edu	37	chr10	101959766	101959766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgcttatatagatcaatgGcacgctgttccctataaaag	13	12	7	9	1	1	1	1	0	0	1	2	1	2	1	1	1	1	4	1	1	7	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:101959766G>T	ENST00000370397.7	-	16	1777	c.1691C>A	c.(1690-1692)gCc>gAc	p.A564D		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	564					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)	TAGATCAATGGCACGCTGTTC	0.333																																					Ovarian(159;52 1904 10536 35305 37148)												0													184	181	182					10																	101959766		2203	4300	6503	SO:0001583	missense	0			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.1691C>A	10.37:g.101959766G>T	ENSP00000359424:p.Ala564Asp		O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A564D	ENST00000370397.7	37	c.1691	CCDS7488.1	10	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383669	0.82792	.	.	ENSG00000213341	ENST00000370397	T	0.25414	1.8	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53599	-0.8416	10	0.66056	D	0.02	-4.8528	16.1381	0.81502	0.0:0.0:1.0:0.0	.	564	O15111	IKKA_HUMAN	D	564	ENSP00000359424:A564D	ENSP00000359424:A564D	A	-	2	0	CHUK	101949756	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	6.968000	0.76086	2.413000	0.81919	0.558000	0.71614	GCC	CHUK	-	NULL	ENSG00000213341		0.333	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1		0	44	0	G	NM_001278		101959766	-1			no_errors	ENST00000370397	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	101959766	G	T	101959766	3	4	144	1	0	0	0	0	1	0	0	0	3423	1203	42	3	570	3	CHUK	10	101959766	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6540906	101959766	33574981	220	36623											
HABP2	3026	genome.wustl.edu	37	chr10	115340369	115340369	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tttagaaacccagatgcggaCgaaaagccctggtgctttat	12	10	10	9	2	0	2	0	0	0	2	0	4	0	3	2	2	4	1	2	2	5	4	rs142304622		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:115340369C>T	ENST00000351270.3	+	8	852	c.756C>T	c.(754-756)gaC>gaT	p.D252D	HABP2_ENST00000542051.1_Silent_p.D226D|HABP2_ENST00000541666.1_Silent_p.D252D	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	252	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				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)	CAGATGCGGACGAAAAGCCCT	0.428													C|||	1	0.000199681	0	0	5008	,	,		19063	0		0	False		,,,				2504	0.001																0								C	,	3,4403	6.2+/-15.9	0,3,2200	94	95	95		678,756	1.6	0.9	10	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HABP2	NM_001177660.1,NM_004132.3	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	226/535,252/561	115340369	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0				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.756C>T	10.37:g.115340369C>T			A8K467|B7Z8U5|F5H5M6|O00663	Silent	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.D252	ENST00000351270.3	37	c.756	CCDS7577.1	10																																																																																			HABP2	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000148702		0.428	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP2	HGNC	protein_coding	OTTHUMT00000050428.1	-	0	72	0	C	NM_004132		115340369	1	tier1	rs142304622	no_errors	ENST00000351270	ensembl	human	known	74_37	silent	47.54	32	29	SNP	0.841	T	T	115340369	C	T	115340369	2	4	144	1	0	0	0	0	0	0	0	1	6965	535	19	1		1	HABP2	10	115340369	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	13380603	115340369	20194378	221	36624											
DMBT1	1755	genome.wustl.edu	37	chr10	124396670	124396670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtctgccaaatcacatgCaagccagtgtgagcaggagc	11	8	11	11	0	3	1	1	1	2	0	3	2	3	2	2	1	5	2	2	1	2	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr10:124396670C>A	ENST00000338354.3	+	51	6503	c.6397C>A	c.(6397-6399)Caa>Aaa	p.Q2133K	DMBT1_ENST00000368955.3_Missense_Mutation_p.Q2123K|DMBT1_ENST00000359586.6_Missense_Mutation_p.Q853K|DMBT1_ENST00000368956.2_Missense_Mutation_p.Q1505K|DMBT1_ENST00000368909.3_Missense_Mutation_p.Q2133K|DMBT1_ENST00000330163.4_Missense_Mutation_p.Q1505K|DMBT1_ENST00000344338.3_Missense_Mutation_p.Q2123K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2133	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)				AAATCACATGCAAGCCAGTGT	0.532																																					Ovarian(182;93 2026 18125 22222 38972)												0													116	116	116					10																	124396670		2037	4192	6229	SO:0001583	missense	0				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.6397C>A	10.37:g.124396670C>A	ENSP00000342210:p.Gln2133Lys		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.Q2133K	ENST00000338354.3	37	c.6397		10	.	.	.	.	.	.	.	.	.	.	C	1.574	-0.533395	0.04082	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.29	2.01	0.26516	Zona pellucida sperm-binding protein (3);	0.760645	0.10333	U	0.687300	T	0.75347	0.3837	L	0.52759	1.655	0.25576	N	0.986847	B;B;B;B;B;B;P	0.34462	0.035;0.016;0.4;0.4;0.4;0.4;0.454	B;B;B;B;B;B;B	0.34931	0.038;0.004;0.121;0.121;0.121;0.121;0.192	T	0.61758	-0.6997	10	0.35671	T	0.21	.	11.414	0.49941	0.126:0.5416:0.3324:0.0	.	853;2113;1382;2262;1505;2123;2133	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	K	2133;2262;2133;2133;2133;2132;1505;2123;1505;1505;2133;2123;1505;279;853	ENSP00000342210:Q2133K;ENSP00000343175:Q2123K;ENSP00000327747:Q1505K;ENSP00000357905:Q2133K;ENSP00000357951:Q2123K;ENSP00000357952:Q1505K;ENSP00000352593:Q853K	ENSP00000331522:Q1505K	Q	+	1	0	DMBT1	124386660	0.477000	0.25909	0.984000	0.44739	0.317000	0.28152	0.598000	0.24074	0.601000	0.29879	-0.165000	0.13383	CAA	DMBT1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000187908		0.532	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	-	0	56	0	C	NM_004406		124396670	1	tier1	-	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	6.49	72	5	SNP	0.636	A	A	124396670	C	A	124396670	3	1	144	1	0	0	0	0	1	0	0	0	4591	711	25	3	6599	3	DMBT1	10	124396670	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	9056301	124396670	11138077	222	36625											
MUC6	4588	genome.wustl.edu	37	chr11	1016777	1016777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggagaaaggtggaacGtgagtgggaagtgtggtctg	10	8	21	2	1	1	2	0	1	1	1	1	6	1	4	0	6	1	0	0	6	3	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:1016777G>T	ENST00000421673.2	-	31	6074	c.6024C>A	c.(6022-6024)caC>caA	p.H2008Q		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:0001583	missense	0			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>A	11.37:g.1016777G>T	ENSP00000406861:p.His2008Gln		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.H2008Q	ENST00000421673.2	37	c.6024	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	8.054	0.766569	0.15983	.	.	ENSG00000184956	ENST00000421673	T	0.16897	2.31	3.08	-6.16	0.02098	.	.	.	.	.	T	0.09468	0.0233	L	0.42245	1.32	0.09310	N	1	B	0.23128	0.08	B	0.15052	0.012	T	0.12293	-1.0553	9	0.25751	T	0.34	.	0.5755	0.00702	0.2498:0.3003:0.1474:0.3026	.	2008	Q6W4X9	MUC6_HUMAN	Q	2008	ENSP00000406861:H2008Q	ENSP00000406861:H2008Q	H	-	3	2	MUC6	1006777	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.326000	0.07965	-4.640000	0.00038	0.306000	0.20318	CAC	MUC6	-	NULL	ENSG00000184956		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0	745	0	G	XM_290540		1016777	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	6.54	527	38	SNP	0.000	T	T	1016777	G	T	1016777	3	4	144	1	0	0	0	0	1	0	0	0	10018	1136	40	2	1307	2	MUC6	11	1016777	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09		1016777	133989739	223	36626											
MUC5B	727897	genome.wustl.edu	37	chr11	1270633	1270633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctgggcctcgagtgcCgtgcccaggcccagcctggt	4	6	14	17	2	0	0	0	0	0	0	1	1	0	0	7	3	4	0	7	3	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:1270633C>T	ENST00000529681.1	+	31	12581	c.12523C>T	c.(12523-12525)Cgt>Tgt	p.R4175C	MUC5B_ENST00000447027.1_Missense_Mutation_p.R4178C|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4175	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)		CCTCGAGTGCCGTGCCCAGGC	0.692																																																	0													30	39	36					11																	1270633		1865	4078	5943	SO:0001583	missense	0			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.12523C>T	11.37:g.1270633C>T	ENSP00000436812:p.Arg4175Cys		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.R4178C	ENST00000529681.1	37	c.12532	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	8.168	0.791011	0.16258	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22134	1.97;1.97	3.69	2.75	0.32379	.	.	.	.	.	T	0.51924	0.1703	M	0.91140	3.18	0.22968	N	0.998494	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	T	0.44498	-0.9324	9	0.87932	D	0	.	10.9048	0.47073	0.3386:0.6614:0.0:0.0	.	4648;4178	A7Y9J9;E9PBJ0	.;.	C	4175;4178;4119;4025	ENSP00000436812:R4175C;ENSP00000415793:R4178C	ENSP00000343037:R4119C	R	+	1	0	MUC5B	1227209	0.000000	0.05858	0.044000	0.18714	0.027000	0.11550	-0.201000	0.09464	0.669000	0.31146	0.393000	0.25936	CGT	MUC5B	-	NULL	ENSG00000117983		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	209	0	C	XM_001126093		1270633	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	83.10	24	118	SNP	0.623	T	T	1270633	C	T	1270633	3	4	144	1	0	0	0	0	1	0	0	0	10017	652	23	1	12654	1	MUC5B	11	1270633	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	253856	1270633	133735883	224	36627											
MMP26	56547	genome.wustl.edu	37	chr11	5010967	5010967	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctgcaacaattccatcgGaatgggacagacctacttga	12	9	8	12	1	0	2	0	1	0	1	3	4	2	4	3	2	3	1	3	2	4	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:5010967G>T	ENST00000380390.1	+	3	405	c.189G>T	c.(187-189)cgG>cgT	p.R63R	MMP26_ENST00000300762.1_Silent_p.R63R|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	63					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)	AATTCCATCGGAATGGGACAG	0.522																																																	0													81	64	69					11																	5010967		2201	4298	6499	SO:0001819	synonymous_variant	0			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.189G>T	11.37:g.5010967G>T			Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A	p.R63	ENST00000380390.1	37	c.189	CCDS7752.1	11																																																																																			MMP26	-	superfamily_Peptidoglycan-bd-like	ENSG00000167346		0.522	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3		0	13	0	G	NM_021801		5010967	1			no_errors	ENST00000300762	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.000	T	T	5010967	G	T	5010967	2	4	144	1	0	0	0	0	0	0	0	1	9701	1161	41	3		3	MMP26	11	5010967	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3740334	5010967	129995549	225	36628											
OR52E2	119678	genome.wustl.edu	37	chr11	5080587	5080587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagatgatccctctgaGgttgatccagaagattccaa	13	11	8	9	0	2	6	1	3	1	3	5	6	5	6	3	1	0	1	3	1	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:5080587G>T	ENST00000321522.2	-	1	270	c.271C>A	c.(271-273)Ctc>Atc	p.L91I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N90_L91>KI(1)|p.L91I(1)		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)		ATCCCTCTGAGGTTGATCCAG	0.488																																																	2	Substitution - Missense(1)|Complex - compound substitution(1)	lung(2)											83	77	79					11																	5080587		2201	4298	6499	SO:0001583	missense	0			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.271C>A	11.37:g.5080587G>T	ENSP00000322088:p.Leu91Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L91I	ENST00000321522.2	37	c.271	CCDS31371.1	11	.	.	.	.	.	.	.	.	.	.	G	1.246	-0.620019	0.03636	.	.	ENSG00000176787	ENST00000321522	T	0.03035	4.07	3.77	0.815	0.18763	GPCR, rhodopsin-like superfamily (1);	0.786555	0.10841	N	0.628273	T	0.04182	0.0116	L	0.46567	1.45	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.39683	-0.9602	10	0.34782	T	0.22	.	8.0404	0.30519	0.3727:0.0:0.6273:0.0	.	91	Q8NGJ4	O52E2_HUMAN	I	91	ENSP00000322088:L91I	ENSP00000322088:L91I	L	-	1	0	OR52E2	5037163	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.739000	0.04866	0.200000	0.20447	-0.141000	0.14075	CTC	OR52E2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176787		0.488	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E2	HGNC	protein_coding	OTTHUMT00000142815.1		0	32	0	G	NM_001005164		5080587	-1			no_errors	ENST00000321522	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.000	T	T	5080587	G	T	5080587	3	4	144	1	0	0	0	0	1	0	0	0	11154	1000	35	3	709	3	OR52E2	11	5080587	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	69620	5080587	129925929	226	36629											
OR52A5	390054	genome.wustl.edu	37	chr11	5153446	5153446	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaagtccaatatgagttaAgaactgctgggaaaagatgg	15	8	11	7	0	0	3	0	1	0	2	1	4	1	4	2	2	2	2	2	2	7	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:5153446A>G	ENST00000307388.1	-	1	426	c.427T>C	c.(427-429)Tta>Cta	p.L143L		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	143					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATATGAGTTAAGAACTGCTGG	0.478																																																	0													72	65	67					11																	5153446		2201	4298	6499	SO:0001819	synonymous_variant	0			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.427T>C	11.37:g.5153446A>G				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L143	ENST00000307388.1	37	c.427	CCDS31373.1	11																																																																																			OR52A5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000171944		0.478	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	HGNC	protein_coding	OTTHUMT00000142823.1	-	0	58	0	A	NM_001005160		5153446	-1	tier1	-	no_errors	ENST00000307388	ensembl	human	known	74_37	silent	81.00	19	81	SNP	0.000	G	G	5153446	A	G	5153446	2	3	144	1	0	0	0	0	0	0	0	1	11149	69	3	4		4	OR52A5	11	5153446	Silent	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	72859	5153446	129853070	227	36630											
OR51I1	390063	genome.wustl.edu	37	chr11	5462646	5462646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcatgtagaggatgcaGaaaatcagggcaacccaggt	15	6	13	7	0	2	3	2	0	0	3	2	5	2	4	1	3	2	3	1	3	4	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:5462646G>T	ENST00000380211.1	-	1	98	c.99C>A	c.(97-99)ttC>ttA	p.F33L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	33					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.F33L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGATGCAGAAAATCAGGG	0.527																																																	1	Substitution - Missense(1)	lung(1)											112	109	110					11																	5462646		2201	4297	6498	SO:0001583	missense	0			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"GPCR / Class A : Olfactory receptors"	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.99C>A	11.37:g.5462646G>T	ENSP00000369559:p.Phe33Leu		B9EKW2|Q6IF33	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F33L	ENST00000380211.1	37	c.99	CCDS31382.1	11	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024405	0.35701	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.03982	3.74	5.9	4.96	0.65561	.	0.000000	0.56097	D	0.000025	T	0.04048	0.0113	N	0.20574	0.59	0.35648	D	0.811567	B	0.13145	0.007	B	0.10450	0.005	T	0.40079	-0.9582	10	0.17832	T	0.49	.	14.0849	0.64949	0.0:0.1507:0.8493:0.0	.	33	Q9H343	O51I1_HUMAN	L	18;30;33	ENSP00000369559:F33L	ENSP00000348350:F18L	F	-	3	2	OR51I1	5419222	0.904000	0.30761	1.000000	0.80357	0.979000	0.70002	1.499000	0.35671	1.497000	0.48584	0.644000	0.83932	TTC	OR51I1	-	prints_GPCR_Rhodpsn	ENSG00000167359		0.527	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I1	HGNC	protein_coding	OTTHUMT00000143399.1		0	20	0	G	NM_001005288		5462646	-1			no_errors	ENST00000380211	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	5462646	G	T	5462646	3	4	144	1	0	0	0	0	1	0	0	0	11139	933	33	3	849	3	OR51I1	11	5462646	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	309200	5462646	129543870	228	36631											
TRIM5	85363	genome.wustl.edu	37	chr11	5701291	5701291	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcttgtggtttgcagtGaggcatgcttggcagaagct	7	13	14	7	0	1	2	0	1	1	1	1	3	1	2	0	3	3	6	0	3	1	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:5701291G>T	ENST00000380034.3	-	2	373	c.117C>A	c.(115-117)ctC>ctA	p.L39L	TRIM5_ENST00000380027.1_Silent_p.L39L|TRIM5_ENST00000396855.3_Silent_p.L39L|TRIM5_ENST00000396847.3_Silent_p.L39L|TRIM5_ENST00000396853.4_Silent_p.L39L|TRIM5_ENST00000305836.5_Silent_p.L39L|TRIM5_ENST00000483835.1_5'Flank	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	39					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GGTTTGCAGTGAGGCATGCTT	0.552																																																	0													121	107	112					11																	5701291		2201	4297	6498	SO:0001819	synonymous_variant	0			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.117C>A	11.37:g.5701291G>T			A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.L39	ENST00000380034.3	37	c.117	CCDS31393.1	11																																																																																			TRIM5	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000132256		0.552	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM5	HGNC	protein_coding	OTTHUMT00000143360.3		0	62	0	G	NM_033034		5701291	-1			no_errors	ENST00000305836	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.953	T	T	5701291	G	T	5701291	2	4	144	1	0	0	0	0	0	0	0	1	16573	1277	45	3		3	TRIM5	11	5701291	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	238645	5701291	129305225	229	36632											
APBB1	322	genome.wustl.edu	37	chr11	6424578	6424578	+	Frame_Shift_Del	DEL	C	C	-																															tgagctgggaaggtcaacgtCccctcctcaggttccttcag																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:6424578delC	ENST00000609360.1	-	5	1110	c.1011delG	c.(1009-1011)gggfs	p.G337fs	APBB1_ENST00000608645.1_Frame_Shift_Del_p.G78fs|APBB1_ENST00000530885.1_Frame_Shift_Del_p.G117fs|APBB1_ENST00000608394.1_Frame_Shift_Del_p.G78fs|APBB1_ENST00000311051.3_Frame_Shift_Del_p.G337fs|APBB1_ENST00000608655.1_Frame_Shift_Del_p.G117fs|APBB1_ENST00000608704.1_Frame_Shift_Del_p.G78fs|APBB1_ENST00000389906.2_Frame_Shift_Del_p.G337fs|APBB1_ENST00000529519.1_5'UTR|APBB1_ENST00000299402.6_Frame_Shift_Del_p.G337fs|APBB1_ENST00000609331.1_Frame_Shift_Del_p.G102fs	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	337					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)		AGGTCAACGTCCCCTCCTCAG	0.567																																					GBM(147;1810 2556 5672 39622)												0													70	67	68					11																	6424578		2201	4296	6497	SO:0001589	frameshift_variant	0			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		ENST00000609360.1:c.1011delG	11.37:g.6424578delC	ENSP00000477213:p.Gly337fs		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Frame_Shift_Del	DEL	pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.T338fs	ENST00000609360.1	37	c.1011		11																																																																																			APBB1	-	NULL	ENSG00000166313		0.567	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1		0	49	0	C	NM_001164		6424578	-1	tier1		no_errors	ENST00000389906	ensembl	human	known	74_37	frame_shift_del	28.95	27	11	DEL	0.993	-	-	6424578	C	-	6424578	7	5	144	1	0	1	0	1	0	0	0	0	759	842	30	0	1161	0	APBB1	11	6424578	Frame_Shift_Del	DEL	C	TCGA-R6-A6XG-01B-11D-A33E-09	723287	6424578	128581938	230	36633											
DNHD1	144132	genome.wustl.edu	37	chr11	6565398	6565398	+	Missense_Mutation	SNP	T	T	C	0	1	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	aggaaagtcttcaggtgttgTccaagatcttggccatcgaa	11	11	11	8	1	3	1	1	0	2	1	5	3	4	2	2	3	0	1	2	3	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:6565398T>C	ENST00000527990.2	+	17	3676	c.3676T>C	c.(3676-3678)Tcc>Ccc	p.S1226P	DNHD1_ENST00000254579.6_Missense_Mutation_p.S1226P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1226					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)		TCAGGTGTTGTCCAAGATCTT	0.507																																																	0													97	85	89					11																	6565398		692	1591	2283	SO:0001583	missense	0			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.3676T>C	11.37:g.6565398T>C	ENSP00000436180:p.Ser1226Pro		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.S1226P	ENST00000527990.2	37	c.3676	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	T	11.23	1.578528	0.28180	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.62498	0.02;0.02	5.23	1.67	0.24075	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.36110	0.0955	N	0.08118	0	0.21675	N	0.999595	B	0.28998	0.23	B	0.32090	0.14	T	0.22765	-1.0207	9	0.23302	T	0.38	.	3.4922	0.07642	0.0:0.2152:0.2004:0.5844	.	1226	Q96M86	DNHD1_HUMAN	P	1226	ENSP00000254579:S1226P;ENSP00000436180:S1226P	ENSP00000254579:S1226P	S	+	1	0	DNHD1	6521974	0.589000	0.26807	0.977000	0.42913	0.763000	0.43281	0.146000	0.16180	0.488000	0.27723	-0.291000	0.09656	TCC	DNHD1	-	pfam_Dynein_heavy_dom-2	ENSG00000179532		0.507	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2		0	39	0	T	NM_144666		6565398	1			no_errors	ENST00000254579	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.971	C	C	6565398	T	C	6565398	3	2	144	1	0	0	0	0	1	0	0	0	4682	1667	58	4	3751	4	DNHD1	11	6565398	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	140820	6565398	128441118	231	36634											
RRP8	23378	genome.wustl.edu	37	chr11	6623228	6623228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttctacttcttcctcaGagtcactgcaaggtgggccc	6	13	8	14	0	4	1	2	0	2	1	6	1	6	1	3	2	2	1	3	2	2	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:6623228G>T	ENST00000254605.6	-	2	434	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	RRP8_ENST00000534343.1_Intron|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000299421.4_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000528995.1_5'Flank|ILK_ENST00000420936.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	106					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						TTCTTCCTCAGAGTCACTGCA	0.448																																																	0													172	159	163					11																	6623228		2201	4296	6497	SO:0001583	missense	0			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.317C>A	11.37:g.6623228G>T	ENSP00000254605:p.Ser106Tyr		Q7KZ78|Q9BVM6	Missense_Mutation	SNP	pfam_Methyltransferase-rel,pfam_Methyltransf_11	p.S106Y	ENST00000254605.6	37	c.317	CCDS31411.1	11	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413708	0.25465	.	.	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.54071	1.31;0.59	5.03	2.05	0.26809	.	0.761220	0.12161	N	0.494013	T	0.32041	0.0816	N	0.17082	0.46	0.58432	D	0.999997	B	0.10296	0.003	B	0.06405	0.002	T	0.14392	-1.0474	10	0.56958	D	0.05	-15.9007	3.6197	0.08090	0.0908:0.1676:0.568:0.1736	.	106	O43159	RRP8_HUMAN	Y	106	ENSP00000254605:S106Y;ENSP00000436246:S106Y	ENSP00000254605:S106Y	S	-	2	0	RRP8	6579804	0.895000	0.30542	0.721000	0.30653	0.733000	0.41908	0.703000	0.25646	0.364000	0.24374	0.655000	0.94253	TCT	RRP8	-	NULL	ENSG00000132275		0.448	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP8	HGNC	protein_coding	OTTHUMT00000384505.1	-	0	68	0	G	NM_015324		6623228	-1	tier1	-	no_errors	ENST00000254605	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.839	T	T	6623228	G	T	6623228	3	4	144	1	0	0	0	0	1	0	0	0	13735	942	33	3	1077	3	RRP8	11	6623228	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	57830	6623228	128383288	232	36635											
DCHS1	8642	genome.wustl.edu	37	chr11	6651816	6651816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgcgtaccgtaagcgcGcgccacggcgggccagcttc	6	5	14	16	8	1	0	1	0	0	0	2	0	1	0	3	2	4	3	3	2	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:6651816G>A	ENST00000299441.3	-	10	4620	c.4209C>T	c.(4207-4209)cgC>cgT	p.R1403R	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1403	Cadherin 13. {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)		CCGTAAGCGCGCGCCACGGCG	0.726																																																	0													2	3	3					11																	6651816		1390	3110	4500	SO:0001819	synonymous_variant	0			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.4209C>T	11.37:g.6651816G>A			O15098	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R1403	ENST00000299441.3	37	c.4209	CCDS7771.1	11																																																																																			DCHS1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.726	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1		0	13	0	G	NM_003737		6651816	-1			no_errors	ENST00000299441	ensembl	human	known	74_37	silent	50.00	3	3	SNP	1.000	A	A	6651816	G	A	6651816	2	1	144	1	0	0	0	0	0	0	0	1	4296	1074	38	1		1	DCHS1	11	6651816	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	28588	6651816	128354700	233	36636											
STK33	65975	genome.wustl.edu	37	chr11	8478953	8478953	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaccttgtctcattctctGagaaatgccctttcctatcc	7	15	4	15	0	2	1	1	1	2	1	7	2	5	1	5	0	1	0	5	0	2	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:8478953G>C	ENST00000447869.1	-	5	1550	c.632C>G	c.(631-633)tCa>tGa	p.S211*	STK33_ENST00000396673.1_Nonsense_Mutation_p.S211*|STK33_ENST00000396672.1_Nonsense_Mutation_p.S211*|STK33_ENST00000534493.1_Nonsense_Mutation_p.S170*|STK33_ENST00000358872.3_Nonsense_Mutation_p.S24*|STK33_ENST00000315204.1_Nonsense_Mutation_p.S211*			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CTCATTCTCTGAGAAATGCCC	0.393																																																	0													142	133	136					11																	8478953		2201	4296	6497	SO:0001587	stop_gained	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.632C>G	11.37:g.8478953G>C	ENSP00000416750:p.Ser211*		Q658S6|Q8NEF5	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S211*	ENST00000447869.1	37	c.632	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531763	0.64972	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559	.	.	.	4.86	4.86	0.63082	.	0.201243	0.41500	D	0.000878	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1697	0.81793	0.0:0.0:1.0:0.0	.	.	.	.	X	211;211;211;24;211;170;123;170;170	.	ENSP00000320754:S211X	S	-	2	0	STK33	8435529	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.159000	0.71856	2.256000	0.74724	0.460000	0.39030	TCA	STK33	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000130413		0.393	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	-	0	48	0	G	NM_030906		8478953	-1	tier1	-	no_errors	ENST00000315204	ensembl	human	known	74_37	nonsense	79.37	13	50	SNP	1.000	C	C	8478953	G	C	8478953	4	2	144	1	0	0	0	0	0	1	0	0	15347	1294	45	5	944	5	STK33	11	8478953	Nonsense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1827137	8478953	126527563	234	36637											
MRGPRX3	117195	genome.wustl.edu	37	chr11	18159055	18159055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcctcagtcctgtgatGacctttccctactttatagg	10	14	6	11	0	1	2	1	2	0	0	4	2	4	2	4	1	1	0	4	1	5	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:18159055G>T	ENST00000396275.2	+	3	667	c.306G>T	c.(304-306)atG>atT	p.M102I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	102						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						GTCCTGTGATGACCTTTCCCT	0.567																																																	0													121	116	118					11																	18159055		2200	4293	6493	SO:0001583	missense	0				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.306G>T	11.37:g.18159055G>T	ENSP00000379571:p.Met102Ile		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.M102I	ENST00000396275.2	37	c.306	CCDS7830.1	11	.	.	.	.	.	.	.	.	.	.	G	3.507	-0.100532	0.06967	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.71222	-0.55;-0.55	1.46	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	4.791810	0.00357	N	0.000030	T	0.60958	0.2309	L	0.49778	1.585	0.09310	N	1	B	0.12013	0.005	B	0.19666	0.026	T	0.19160	-1.0314	10	0.25106	T	0.35	.	3.1558	0.06504	0.3013:0.0:0.4916:0.2071	.	102	Q96LB0	MRGX3_HUMAN	I	102	ENSP00000379571:M102I;ENSP00000436242:M102I	ENSP00000379571:M102I	M	+	3	0	MRGPRX3	18115631	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-4.719000	0.00194	-0.891000	0.03940	0.430000	0.28490	ATG	MRGPRX3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179826		0.567	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	HGNC	protein_coding	OTTHUMT00000389767.1	-	0	41	0	G	NM_054031		18159055	1	tier1	-	no_errors	ENST00000396275	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.025	T	T	18159055	G	T	18159055	3	4	144	1	0	0	0	0	1	0	0	0	9806	1290	45	3	308	3	MRGPRX3	11	18159055	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	9680102	18159055	116847461	235	36638											
C11orf41	25758	genome.wustl.edu	37	chr11	33667346	33667346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctccacactgagctcccagCcatccatcgacgaggtcagg	9	6	9	17	2	1	1	1	1	0	0	5	3	4	1	5	2	2	1	5	2	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:33667346C>T	ENST00000321505.4	+	16	4813	c.4633C>T	c.(4633-4635)Cca>Tca	p.P1545S	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P1551S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1545						integral component of membrane (GO:0016021)											GAGCTCCCAGCCATCCATCGA	0.622																																																	0													54	63	60					11																	33667346		2159	4244	6403	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4633C>T	11.37:g.33667346C>T	ENSP00000315295:p.Pro1545Ser		B0QYU0	Missense_Mutation	SNP	NULL	p.P1551S	ENST00000321505.4	37	c.4651	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043400	0.93685	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	D	0.82848	0.5126	M	0.73962	2.25	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.83927	0.0304	9	0.87932	D	0	-19.7632	19.8929	0.96937	0.0:1.0:0.0:0.0	.	1551	E9PAT2	.	S	1545;1551;1384	.	ENSP00000315295:P1545S	P	+	1	0	C11orf41	33623922	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.466000	0.80914	2.702000	0.92279	0.462000	0.41574	CCA	KIAA1549L	-	NULL	ENSG00000110427		0.622	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	-	0	114	0	C	NM_012194		33667346	1	tier1	-	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	17.65	70	15	SNP	1.000	T	T	33667346	C	T	33667346	3	4	144	1	0	0	0	0	1	0	0	0	1645	739	26	3	4713	3	C11orf41	11	33667346	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	15508291	33667346	101339170	236	36639											
PTPRJ	5795	genome.wustl.edu	37	chr11	48146607	48146607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacctgtggacccatcctCcggccagcagtcccgagaca	8	5	12	16	2	0	1	0	0	0	1	3	4	3	3	6	3	1	1	6	3	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:48146607C>A	ENST00000418331.2	+	6	1314	c.962C>A	c.(961-963)tCc>tAc	p.S321Y	PTPRJ_ENST00000440289.2_Missense_Mutation_p.S321Y	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	321	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GACCCATCCTCCGGCCAGCAG	0.597																																																	0													99	110	106					11																	48146607		2201	4298	6499	SO:0001583	missense	0			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.962C>A	11.37:g.48146607C>A	ENSP00000400010:p.Ser321Tyr		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S321Y	ENST00000418331.2	37	c.962	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	C	9.953	1.220567	0.22457	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.37584	2.46;1.19	4.77	-0.498	0.12019	Fibronectin, type III (1);	.	.	.	.	T	0.17195	0.0413	L	0.29908	0.895	0.09310	N	1	B;P	0.36282	0.004;0.546	B;B	0.28638	0.004;0.092	T	0.17289	-1.0374	9	0.16420	T	0.52	.	3.9448	0.09344	0.1582:0.4773:0.0:0.3646	.	321;321	Q12913;Q6P4H4	PTPRJ_HUMAN;.	Y	321	ENSP00000400010:S321Y;ENSP00000409733:S321Y	ENSP00000278456:S321Y	S	+	2	0	PTPRJ	48103183	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.117000	0.10708	-0.012000	0.14223	-0.251000	0.11542	TCC	PTPRJ	-	smart_Fibronectin_type3	ENSG00000149177		0.597	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1		0	49	0	C			48146607	1			no_errors	ENST00000418331	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.000	A	A	48146607	C	A	48146607	3	1	144	1	0	0	0	0	1	0	0	0	12849	855	30	3	984	3	PTPRJ	11	48146607	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	14479261	48146607	86859909	237	36640											
OR4A5	81318	genome.wustl.edu	37	chr11	51411994	51411994	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcaaacctgtcgattCatgatggtcaaatagtgcag	14	9	11	7	1	2	1	2	1	0	0	3	3	2	2	1	2	3	2	1	2	4	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:51411994C>A	ENST00000319760.6	-	1	454	c.402G>T	c.(400-402)atG>atT	p.M134I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	134						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)				CCTGTCGATTCATGATGGTCA	0.478																																																	0													78	73	75					11																	51411994		2201	4293	6494	SO:0001583	missense	0			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.402G>T	11.37:g.51411994C>A	ENSP00000367664:p.Met134Ile		Q6IF84	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M134I	ENST00000319760.6	37	c.402	CCDS31497.1	11	.	.	.	.	.	.	.	.	.	.	.	9.109	1.005998	0.19199	.	.	ENSG00000221840	ENST00000319760	T	0.00848	5.62	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.01940	0.0061	M	0.83692	2.655	0.28158	N	0.929112	B	0.24132	0.098	B	0.26614	0.071	T	0.10474	-1.0628	10	0.72032	D	0.01	.	9.9079	0.41388	0.0:1.0:0.0:0.0	.	134	Q8NH83	OR4A5_HUMAN	I	134	ENSP00000367664:M134I	ENSP00000367664:M134I	M	-	3	0	OR4A5	51268570	0.981000	0.34729	0.909000	0.35828	0.394000	0.30568	2.687000	0.46976	1.394000	0.46624	0.162000	0.16502	ATG	OR4A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000221840		0.478	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1		0	33	0	C	NM_001005272		51411994	-1			no_errors	ENST00000319760	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.993	A	A	51411994	C	A	51411994	3	1	144	1	0	0	0	0	1	0	0	0	11082	826	29	3	549	3	OR4A5	11	51411994	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	3265387	51411994	83594522	238	36641											
OR4C11	219429	genome.wustl.edu	37	chr11	55371506	55371506	+	Missense_Mutation	SNP	A	A	G	1	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	catagcgatcaacagccatgAgaatgaggacaaagatctcc	16	6	9	10	1	2	3	1	2	1	2	3	6	2	4	2	1	3	0	2	1	4	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:55371506A>G	ENST00000302231.4	-	1	368	c.344T>C	c.(343-345)cTc>cCc	p.L115P		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AACAGCCATGAGAATGAGGAC	0.443																																																	0													98	82	88					11																	55371506		2179	4009	6188	SO:0001583	missense	0			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.344T>C	11.37:g.55371506A>G	ENSP00000306651:p.Leu115Pro		B9EIL4|Q8NGL8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L115P	ENST00000302231.4	37	c.344	CCDS31503.1	11	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786071	0.31593	.	.	ENSG00000172188	ENST00000302231	T	0.03358	3.96	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.362916	0.18940	U	0.126961	T	0.09642	0.0237	M	0.70903	2.155	0.48236	D	0.999615	D	0.59767	0.986	P	0.53313	0.723	T	0.01084	-1.1457	10	0.87932	D	0	.	6.6259	0.22828	0.8931:0.0:0.1069:0.0	.	115	Q6IEV9	OR4CB_HUMAN	P	115	ENSP00000306651:L115P	ENSP00000306651:L115P	L	-	2	0	OR4C11	55128082	0.000000	0.05858	0.981000	0.43875	0.154000	0.21943	0.415000	0.21181	1.962000	0.57031	0.391000	0.25812	CTC	OR4C11	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172188		0.443	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C11	HGNC	protein_coding	OTTHUMT00000383268.1	-	0	25	0	A	NM_001004700		55371506	-1	tier1	-	no_errors	ENST00000302231	ensembl	human	known	74_37	missense	42.11	22	16	SNP	0.867	G	G	55371506	A	G	55371506	3	3	144	1	0	0	0	0	1	0	0	0	11084	304	11	4	590	4	OR4C11	11	55371506	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	3959512	55371506	79635010	239	36642											
OR8H3	390152	genome.wustl.edu	37	chr11	55890377	55890377	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcaaacataattcatcacTttttctgtgacacttcccca	12	14	2	13	0	4	1	3	1	1	0	5	1	5	1	2	0	1	0	2	0	2	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:55890377T>A	ENST00000313472.3	+	1	529	c.529T>A	c.(529-531)Ttt>Att	p.F177I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	177						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)					AATTCATCACTTTTTCTGTGA	0.428																																																	0													246	222	230					11																	55890377		2201	4296	6497	SO:0001583	missense	0			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.529T>A	11.37:g.55890377T>A	ENSP00000323928:p.Phe177Ile		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F177I	ENST00000313472.3	37	c.529	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989133	0.53934	.	.	ENSG00000181761	ENST00000313472	T	0.00350	7.98	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000046	T	0.00724	0.0024	M	0.80982	2.52	0.29009	N	0.887012	D	0.63046	0.992	D	0.67900	0.954	T	0.18053	-1.0349	10	0.87932	D	0	.	11.7455	0.51817	0.0:0.0:0.0:1.0	.	177	Q8N146	OR8H3_HUMAN	I	177	ENSP00000323928:F177I	ENSP00000323928:F177I	F	+	1	0	OR8H3	55646953	0.002000	0.14202	0.958000	0.39756	0.395000	0.30598	0.937000	0.28951	1.415000	0.47037	0.145000	0.16022	TTT	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181761		0.428	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	-	0	23	0	T	NM_001005201		55890377	1	tier1	-	no_errors	ENST00000313472	ensembl	human	known	74_37	missense	80.00	6	24	SNP	0.995	A	A	55890377	T	A	55890377	3	1	144	1	0	0	0	0	1	0	0	0	11278	1609	56	5	531	5	OR8H3	11	55890377	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	518871	55890377	79116139	240	36643											
OR5A2	219981	genome.wustl.edu	37	chr11	59189513	59189513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccggggtccctttccatgGctttcctcatggcattttta	4	16	8	13	1	1	0	1	0	0	0	5	0	5	0	4	4	0	2	4	4	1	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:59189513G>T	ENST00000302040.4	-	1	936	c.914C>A	c.(913-915)gCc>gAc	p.A305D		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCTTTCCATGGCTTTCCTCAT	0.448																																																	0													83	82	83					11																	59189513		2201	4295	6496	SO:0001583	missense	0			AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"GPCR / Class A : Olfactory receptors"	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.914C>A	11.37:g.59189513G>T	ENSP00000303834:p.Ala305Asp		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A305D	ENST00000302040.4	37	c.914	CCDS31560.1	11	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671122	0.47781	.	.	ENSG00000172324	ENST00000302040	T	0.38077	1.16	5.46	-9.97	0.00440	.	0.589703	0.12541	U	0.459898	T	0.13200	0.0320	N	0.08118	0	0.09310	N	1	P	0.37038	0.579	B	0.33750	0.169	T	0.36407	-0.9749	10	0.66056	D	0.02	.	9.9216	0.41468	0.2998:0.1236:0.5766:0.0	.	305	Q8NGI9	OR5A2_HUMAN	D	305	ENSP00000303834:A305D	ENSP00000303834:A305D	A	-	2	0	OR5A2	58946089	0.001000	0.12720	0.000000	0.03702	0.406000	0.30931	0.070000	0.14573	-2.064000	0.00888	0.655000	0.94253	GCC	OR5A2	-	NULL	ENSG00000172324		0.448	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5A2	HGNC	protein_coding	OTTHUMT00000394552.1	-	0	50	0	G	NM_001001954		59189513	-1	tier1	-	no_errors	ENST00000302040	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.000	T	T	59189513	G	T	59189513	3	4	144	1	0	0	0	0	1	0	0	0	11179	1203	42	3	62	3	OR5A2	11	59189513	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3299136	59189513	75817003	241	36644											
C11orf9	745	genome.wustl.edu	37	chr11	61541595	61541595	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aagacgcccgagggcctcaaGcccctcgactgcttctatct	8	8	9	16	3	3	1	1	0	2	1	4	3	3	1	4	1	2	1	4	1	3	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:61541595G>T	ENST00000278836.5	+	8	1368	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	MYRF_ENST00000265460.5_Missense_Mutation_p.K415N|TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000327797.1_Missense_Mutation_p.K51N	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	424					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)										AGGGCCTCAAGCCCCTCGACT	0.592																																																	0													49	43	45					11																	61541595		2202	4299	6501	SO:0001583	missense	0				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.1272G>T	11.37:g.61541595G>T	ENSP00000278836:p.Lys424Asn		O43582|Q9P1Q6	Missense_Mutation	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.K424N	ENST00000278836.5	37	c.1272	CCDS44622.1	11	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294625	0.81025	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.48201	1.34;1.35;0.82	4.52	4.52	0.55395	NDT80 DNA-binding domain (2);p53-like transcription factor, DNA-binding (1);	0.249286	0.41294	D	0.000904	T	0.53254	0.1785	L	0.58669	1.825	0.52501	D	0.99995	B;B	0.33777	0.216;0.425	B;B	0.43950	0.437;0.324	T	0.57528	-0.7796	10	0.59425	D	0.04	-20.1586	13.2364	0.59971	0.0799:0.0:0.9201:0.0	.	415;424	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	N	424;415;51	ENSP00000278836:K424N;ENSP00000265460:K415N;ENSP00000333261:K51N	ENSP00000265460:K415N	K	+	3	2	C11orf9	61298171	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.058000	0.57463	2.527000	0.85204	0.462000	0.41574	AAG	MYRF	-	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	ENSG00000124920		0.592	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2	-	0	76	0	G	NM_013279		61541595	1	tier1	-	no_errors	ENST00000278836	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	61541595	G	T	61541595	3	4	144	1	0	0	0	0	1	0	0	0	1676	962	34	3	1325	3	C11orf9	11	61541595	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2352082	61541595	73464921	242	36645											
SLC22A12	116085	genome.wustl.edu	37	chr11	64359294	64359294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggccccaccagtgccGccgcttccgccagccacagt	7	4	10	20	3	0	1	0	0	0	1	1	1	1	1	9	1	2	1	9	1	0	1	rs201567912		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:64359294G>T	ENST00000377574.1	+	1	1013	c.266G>T	c.(265-267)cGc>cTc	p.R89L	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R89L|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R89L|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R89L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	89					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CACCAGTGCCGCCGCTTCCGC	0.667																																																	0													23	27	26					11																	64359294		2196	4294	6490	SO:0001583	missense	0			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.266G>T	11.37:g.64359294G>T	ENSP00000366797:p.Arg89Leu		B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R89L	ENST00000377574.1	37	c.266	CCDS8075.1	11	.	.	.	.	.	.	.	.	.	.	G	9.688	1.151104	0.21371	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	4.4	-3.38	0.04883	.	0.452831	0.22567	N	0.058382	T	0.04543	0.0124	N	0.13198	0.31	0.21105	N	0.999784	B;B;P;B	0.35383	0.078;0.078;0.498;0.078	B;B;B;B	0.36608	0.028;0.028;0.229;0.028	T	0.43734	-0.9373	10	0.10111	T	0.7	.	8.6014	0.33747	0.0809:0.0:0.2911:0.628	.	89;89;89;89	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	L	89	ENSP00000366790:R89L;ENSP00000366797:R89L;ENSP00000366795:R89L;ENSP00000336836:R89L	ENSP00000336836:R89L	R	+	2	0	SLC22A12	64115870	0.000000	0.05858	0.089000	0.20774	0.132000	0.20833	-0.585000	0.05794	-0.818000	0.04329	0.484000	0.47621	CGC	SLC22A12	-	NULL	ENSG00000197891		0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2		0	99	0	G	NM_144585		64359294	1			no_errors	ENST00000377574	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.779	T	T	64359294	G	T	64359294	3	4	144	1	0	0	0	0	1	0	0	0	14488	1087	38	2	268	2	SLC22A12	11	64359294	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2817699	64359294	70647222	243	36646											
SCYL1	57410	genome.wustl.edu	37	chr11	65299049	65299049	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttcctgccctttcaggtGggcaagttcctgagcgctga	6	12	11	12	1	2	2	1	2	1	0	4	2	4	2	3	2	2	3	3	2	1	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:65299049G>T	ENST00000270176.5	+	8	1088	c.1011G>T	c.(1009-1011)gtG>gtT	p.V337V	SCYL1_ENST00000420247.2_Silent_p.V337V|SCYL1_ENST00000533862.1_Silent_p.V337V|SCYL1_ENST00000524944.1_Silent_p.V337V|SCYL1_ENST00000525364.1_Silent_p.V337V|SCYL1_ENST00000279270.6_Silent_p.V337V|SCYL1_ENST00000527009.1_Silent_p.V194V	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	337					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CCTTTCAGGTGGGCAAGTTCC	0.557																																																	0													70	73	72					11																	65299049		2111	4218	6329	SO:0001819	synonymous_variant	0			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1011G>T	11.37:g.65299049G>T			A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.V337	ENST00000270176.5	37	c.1011	CCDS41672.1	11																																																																																			SCYL1	-	superfamily_ARM-type_fold	ENSG00000142186		0.557	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL1	HGNC	protein_coding	OTTHUMT00000389159.2	-	0	76	0	G	NM_020680		65299049	1	tier1	-	no_errors	ENST00000270176	ensembl	human	known	74_37	silent	5.19	72	4	SNP	1.000	T	T	65299049	G	T	65299049	2	4	144	1	0	0	0	0	0	0	0	1	13992	1335	47	3		3	SCYL1	11	65299049	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	939755	65299049	69707467	244	36647											
SHANK2	22941	genome.wustl.edu	37	chr11	70666754	70666754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tgttggggggccgccgccggCggttggagtacgccggggcc	2	6	21	12	6	0	0	0	0	0	0	0	1	0	1	5	8	1	3	5	8	1	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:70666754C>T	ENST00000423696.2	-	2	107	c.71G>A	c.(70-72)cGc>cAc	p.R24H	SHANK2_ENST00000338508.4_Missense_Mutation_p.R404H|SHANK2_ENST00000468619.1_5'UTR			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	24					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)			CCGCCGCCGGCGGTTGGAGTA	0.697																																																	0																																										SO:0001583	missense	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.71G>A	11.37:g.70666754C>T	ENSP00000394536:p.Arg24His		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.R404H	ENST00000423696.2	37	c.1211		11	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582499	0.46006	.	.	ENSG00000162105	ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000425049	T;T;T	0.45276	0.9;2.04;1.95	4.38	3.47	0.39725	.	0.000000	0.50627	U	0.000116	T	0.58308	0.2113	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59484	-0.7446	10	0.56958	D	0.05	.	12.281	0.54762	0.0:0.9167:0.0:0.0833	.	403	Q9UPX8-3	.	H	404;24;33;34;50	ENSP00000345193:R404H;ENSP00000394536:R24H;ENSP00000294018:R34H	ENSP00000294018:R34H	R	-	2	0	SHANK2	70344402	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	4.183000	0.58317	0.961000	0.38030	0.462000	0.41574	CGC	SHANK2	-	NULL	ENSG00000162105		0.697	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding			0	21	0	C	NM_012309		70666754	-1			no_errors	ENST00000338508	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.999	T	T	70666754	C	T	70666754	3	4	144	1	0	0	0	0	1	0	0	0	14310	768	27	1	4490	1	SHANK2	11	70666754	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	5367705	70666754	64339762	245	36648											
CLPB	81570	genome.wustl.edu	37	chr11	72004486	72004486	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtcttgctgtccttgtcGatgatctccagacgcagctt	6	13	10	12	3	2	2	0	1	2	1	5	4	3	2	2	0	2	3	2	0	0	3	rs200471243		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:72004486G>T	ENST00000294053.3	-	17	2222	c.2049C>A	c.(2047-2049)atC>atA	p.I683I	CLPB_ENST00000538021.1_Silent_p.I291I|CLPB_ENST00000340729.5_Silent_p.I624I|CLPB_ENST00000538039.1_Silent_p.I653I|CLPB_ENST00000543042.1_Silent_p.I482I|CLPB_ENST00000437826.2_Silent_p.I638I	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	683					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						TGTCCTTGTCGATGATCTCCA	0.592																																																	0													134	104	114					11																	72004486		2200	4293	6493	SO:0001819	synonymous_variant	0			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.2049C>A	11.37:g.72004486G>T			B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Silent	SNP	pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,prints_ClpA/B,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I683	ENST00000294053.3	37	c.2049	CCDS8215.1	11																																																																																			CLPB	-	NULL	ENSG00000162129		0.592	CLPB-001	KNOWN	basic|CCDS	protein_coding	CLPB	HGNC	protein_coding	OTTHUMT00000396889.1		0	50	0	G	NM_030813		72004486	-1			no_errors	ENST00000294053	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.887	T	T	72004486	G	T	72004486	2	4	144	1	0	0	0	0	0	0	0	1	3558	1048	37	2		2	CLPB	11	72004486	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1337732	72004486	63002030	246	36649											
FOLR4	390243	genome.wustl.edu	37	chr11	94039705	94039705	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctggaaggacaatgcctgCtgcaccctcacgacaagctg	10	6	10	15	1	1	0	1	0	0	0	1	3	1	2	3	2	4	3	3	2	3	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:94039705C>A	ENST00000440961.2	+	2	209	c.165C>A	c.(163-165)tgC>tgA	p.C55*		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	55					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						ACAATGCCTGCTGCACCCTCA	0.552																																																	0													205	203	203					11																	94039705		2068	4202	6270	SO:0001587	stop_gained	0					11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"folate receptor 4 (delta) homolog (mouse)"			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.165C>A	11.37:g.94039705C>A	ENSP00000416935:p.Cys55*			Nonsense_Mutation	SNP	pfam_Folate_rcpt-like	p.C55*	ENST00000440961.2	37	c.165		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.217886|4.217886	0.79352|0.79352	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000328458|ENST00000440961	.|.	.|.	.|.	4.75|4.75	3.84|3.84	0.44239|0.44239	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.53753|.	0.1816|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.64202|.	-0.6463|.	3|.	.|.	.|.	.|.	-6.1828|-6.1828	10.7748|10.7748	0.46343|0.46343	0.0:0.9071:0.0:0.0929|0.0:0.9071:0.0:0.0929	.|.	.|.	.|.	.|.	D|X	49|55	.|.	.|.	A|C	+|+	2|3	0|2	FOLR4|FOLR4	93679353|93679353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.824000|0.824000	0.46624|0.46624	1.849000|1.849000	0.39318|0.39318	1.368000|1.368000	0.46115|0.46115	0.561000|0.561000	0.74099|0.74099	GCT|TGC	FOLR4	-	pfam_Folate_rcpt-like	ENSG00000183560		0.552	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	FOLR4	HGNC	protein_coding	OTTHUMT00000396420.1	-	0	18	0	C	NM_001080486		94039705	1	tier1	-	no_errors	ENST00000440961	ensembl	human	novel	74_37	nonsense	42.86	8	6	SNP	1.000	A	A	94039705	C	A	94039705	4	1	144	1	0	0	0	0	0	1	0	0	6006	805	28	3	171	3	FOLR4	11	94039705	Nonsense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	22035219	94039705	40966811	247	36650											
ATM	472	genome.wustl.edu	37	chr11	108121679	108121679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattacctttcgtggtataaGttctgagcaaatacaagctg	12	14	8	7	1	1	1	0	1	1	0	2	1	1	1	1	1	4	4	1	1	7	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:108121679G>T	ENST00000452508.2	+	11	1676	c.1487G>T	c.(1486-1488)aGt>aTt	p.S496I	ATM_ENST00000278616.4_Missense_Mutation_p.S496I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	496					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)	CGTGGTATAAGTTCTGAGCAA	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"	0													123	133	129					11																	108121679		2201	4298	6499	SO:0001583	missense	0	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.1487G>T	11.37:g.108121679G>T	ENSP00000388058:p.Ser496Ile		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S496I	ENST00000452508.2	37	c.1487	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600183	0.87055	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.65549	-0.16;-0.16;-0.16	5.77	4.86	0.63082	Armadillo-type fold (1);	0.043398	0.85682	D	0.000000	T	0.71609	0.3360	M	0.68952	2.095	0.51482	D	0.999921	D	0.56746	0.977	P	0.54460	0.753	T	0.75736	-0.3213	10	0.72032	D	0.01	.	14.5973	0.68415	0.0694:0.0:0.9305:0.0	.	496	Q13315	ATM_HUMAN	I	496	ENSP00000435747:S496I;ENSP00000278616:S496I;ENSP00000388058:S496I	ENSP00000278616:S496I	S	+	2	0	ATM	107626889	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.267000	0.72546	1.446000	0.47643	0.561000	0.74099	AGT	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	45	0	G	NM_000051		108121679	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	108121679	G	T	108121679	3	4	144	1	0	0	0	0	1	0	0	0	1110	1029	36	3	1521	3	ATM	11	108121679	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	14081974	108121679	26884837	248	36651											
SORL1	6653	genome.wustl.edu	37	chr11	121458833	121458833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagtgccgcgacgggtccGatgaggatgcggcgtttgca	6	8	16	11	6	0	1	0	1	0	0	2	4	2	2	3	3	3	2	3	3	0	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr11:121458833G>A	ENST00000260197.7	+	28	4048	c.3919G>A	c.(3919-3921)Gat>Aat	p.D1307N	SORL1_ENST00000534286.1_Missense_Mutation_p.D217N|SORL1_ENST00000527934.1_5'Flank|SORL1_ENST00000532694.1_Missense_Mutation_p.D153N|SORL1_ENST00000525532.1_Missense_Mutation_p.D251N	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1307	LDL-receptor class A 6. {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)		CGACGGGTCCGATGAGGATGC	0.587																																																	0													94	78	83					11																	121458833		2203	4299	6502	SO:0001583	missense	0			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.3919G>A	11.37:g.121458833G>A	ENSP00000260197:p.Asp1307Asn		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D1307N	ENST00000260197.7	37	c.3919	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.070005	0.93950	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.52	5.52	0.82312	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99351	0.9772	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98991	1.0808	10	0.87932	D	0	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	1307	Q92673	SORL_HUMAN	N	1307;251;153;217	ENSP00000260197:D1307N;ENSP00000434634:D251N;ENSP00000432131:D153N;ENSP00000436447:D217N	ENSP00000260197:D1307N	D	+	1	0	SORL1	120964043	1.000000	0.71417	0.098000	0.21074	0.064000	0.16182	9.434000	0.97515	2.595000	0.87683	0.655000	0.94253	GAT	SORL1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	ENSG00000137642		0.587	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2		0	26	0	G	NM_003105		121458833	1			no_errors	ENST00000260197	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.996	A	A	121458833	G	A	121458833	3	1	144	1	0	0	0	0	1	0	0	0	14979	1058	37	1	4029	1	SORL1	11	121458833	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	13337154	121458833	13547683	249	36652											
CACNA2D4	93589	genome.wustl.edu	37	chr12	1965219	1965219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgaggaagcggatcatgGcctctagctggctgagcttc	7	10	15	9	1	2	2	1	2	1	0	3	4	2	4	1	5	3	3	1	5	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:1965219G>T	ENST00000382722.5	-	22	2473	c.2111C>A	c.(2110-2112)gCc>gAc	p.A704D	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A640D|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A640D|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A704D|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A679D|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A565D	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	704					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)		GCGGATCATGGCCTCTAGCTG	0.547																																					Colon(2;101 179 21030 23310 28141)												0													68	76	73					12																	1965219		2040	4192	6232	SO:0001583	missense	0			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.2111C>A	12.37:g.1965219G>T	ENSP00000372169:p.Ala704Asp		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A704D	ENST00000382722.5	37	c.2111	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	G	15.87	2.962083	0.53400	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.30981	1.51	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.985;1.0	P;D	0.91635	0.882;0.999	T	0.59236	-0.7492	10	0.17369	T	0.5	.	15.6637	0.77209	0.0:0.0:1.0:0.0	.	704;704	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	D	640;704;704	ENSP00000372169:A704D	ENSP00000280663:A704D	A	-	2	0	CACNA2D4	1835480	1.000000	0.71417	0.913000	0.36048	0.153000	0.21895	9.349000	0.97066	2.065000	0.61736	0.462000	0.41574	GCC	CACNA2D4	-	NULL	ENSG00000151062		0.547	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2		0	96	0	G			1965219	-1			no_errors	ENST00000382722	ensembl	human	known	74_37	missense	6.10	77	5	SNP	0.998	T	T	1965219	G	T	1965219	3	4	144	1	0	0	0	0	1	0	0	0	2558	1203	42	3	1370	3	CACNA2D4	12	1965219	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09		1965219	131886676	250	36653											
CD163	9332	genome.wustl.edu	37	chr12	7647722	7647722	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgatcacaggtaagtcCaccccattgccagttcttgc	10	11	8	12	0	2	1	1	1	1	0	3	1	3	1	4	1	2	2	4	1	2	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:7647722C>A	ENST00000359156.4	-	6	1577	c.1375G>T	c.(1375-1377)Gga>Tga	p.G459*	CD163_ENST00000432237.2_Nonsense_Mutation_p.G459*|CD163_ENST00000396620.3_Nonsense_Mutation_p.G459*|CD163_ENST00000541972.1_Nonsense_Mutation_p.G447*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	459	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CAGGTAAGTCCACCCCATTGC	0.413																																																	0													210	193	199					12																	7647722		2203	4300	6503	SO:0001587	stop_gained	0			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.1375G>T	12.37:g.7647722C>A	ENSP00000352071:p.Gly459*		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.G459*	ENST00000359156.4	37	c.1375	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.862457	0.97036	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	5.01	4.12	0.48240	.	0.464024	0.20456	N	0.091982	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	11.2519	0.49031	0.0:0.9092:0.0:0.0908	.	.	.	.	X	459;447;459;459	.	ENSP00000352071:G459X	G	-	1	0	CD163	7538989	0.000000	0.05858	1.000000	0.80357	0.777000	0.43975	-0.165000	0.09968	2.776000	0.95493	0.650000	0.86243	GGA	CD163	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000177575		0.413	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	-	0	47	0	C	NM_004244, NM_203416		7647722	-1	tier1	-	no_errors	ENST00000359156	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	0.936	A	A	7647722	C	A	7647722	4	1	144	1	0	0	0	0	0	1	0	0	2974	603	21	3	2139	3	CD163	12	7647722	Nonsense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	5682503	7647722	126204173	251	36654											
PHC1	1911	genome.wustl.edu	37	chr12	9085324	9085324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agctacacacctccagttggCgcagcagcagcagcagcaac	12	4	10	15	1	0	0	0	0	0	0	1	0	1	0	2	1	8	8	2	1	2	2	rs368945524		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:9085324C>T	ENST00000543824.1	+	9	1603	c.1271C>T	c.(1270-1272)gCg>gTg	p.A424V	PHC1_ENST00000536844.1_Missense_Mutation_p.A203V|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Missense_Mutation_p.A424V|PHC1_ENST00000433083.2_Missense_Mutation_p.A379V			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	424					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	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)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CTCCAGTTGGCgcagcagcag	0.607																																																	0													67	72	70					12																	9085324		2203	4298	6501	SO:0001583	missense	0			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.1271C>T	12.37:g.9085324C>T	ENSP00000440674:p.Ala424Val		D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.A424V	ENST00000543824.1	37	c.1271	CCDS8597.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.27|16.27	3.076823|3.076823	0.55753|0.55753	.|.	.|.	ENSG00000111752|ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844|ENST00000537610	T;T;T;T;T|.	0.74002|.	0.3;0.3;0.3;0.3;-0.8|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.194739|.	0.34676|.	N|.	0.003775|.	T|T	0.59569|0.59569	0.2203|0.2203	L|L	0.35854|0.35854	1.095|1.095	0.35668|0.35668	D|D	0.813076|0.813076	D;D;D|.	0.69078|.	0.996;0.993;0.997|.	P;P;P|.	0.54238|.	0.746;0.561;0.689|.	T|T	0.63924|0.63924	-0.6527|-0.6527	10|5	0.33141|.	T|.	0.24|.	-1.2229|-1.2229	17.7775|17.7775	0.88514|0.88514	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	424;424;424|.	B4DF21;P78364;B2RXH1|.	.;PHC1_HUMAN;.|.	V|C	424;424;379;424;203|60	ENSP00000440674:A424V;ENSP00000251757:A424V;ENSP00000399194:A379V;ENSP00000437659:A424V;ENSP00000440488:A203V|.	ENSP00000251757:A424V|.	A|R	+|+	2|1	0|0	PHC1|PHC1	8976591|8976591	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.915000|0.915000	0.54546|0.54546	4.694000|4.694000	0.61760|0.61760	2.517000|2.517000	0.84864|0.84864	0.650000|0.650000	0.86243|0.86243	GCG|CGC	PHC1	-	NULL	ENSG00000111752		0.607	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	HGNC	protein_coding	OTTHUMT00000399115.1	-	0	97	0	C	NM_004426		9085324	1	tier1	-	no_errors	ENST00000543824	ensembl	human	known	74_37	missense	26.67	66	24	SNP	1.000	T	T	9085324	C	T	9085324	3	4	144	1	0	0	0	0	1	0	0	0	11855	768	27	1	1297	1	PHC1	12	9085324	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	1437602	9085324	124766571	252	36655											
CLEC9A	283420	genome.wustl.edu	37	chr12	10218213	10218213	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatctgtgagaagtatgcGttgagatcctctgtctgaaa	10	15	10	6	1	3	3	0	3	3	2	4	5	4	3	1	0	1	2	1	0	4	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:10218213G>T	ENST00000355819.1	+	9	1321	c.708G>T	c.(706-708)gcG>gcT	p.A236A		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	236					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)	p.A236A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AGAAGTATGCGTTGAGATCCT	0.438																																																	1	Substitution - coding silent(1)	large_intestine(1)											187	166	173					12																	10218213		2203	4300	6503	SO:0001819	synonymous_variant	0				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.708G>T	12.37:g.10218213G>T			B0ZBM2	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.A236	ENST00000355819.1	37	c.708	CCDS8611.1	12																																																																																			CLEC9A	-	superfamily_C-type_lectin_fold	ENSG00000197992		0.438	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CLEC9A	HGNC	protein_coding	OTTHUMT00000399564.1		0	30	0	G	NM_207345		10218213	1			no_errors	ENST00000355819	ensembl	human	putative	74_37	silent	5.13	37	2	SNP	0.000	T	T	10218213	G	T	10218213	2	4	144	1	0	0	0	0	0	0	0	1	3529	1132	40	2		2	CLEC9A	12	10218213	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1132889	10218213	123633682	253	36656											
GPRC5A	9052	genome.wustl.edu	37	chr12	13061546	13061546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgctgtcagtctgaccaaGctcgtccgggggaggaagcc	8	7	14	12	2	2	1	1	1	1	0	4	3	3	3	3	3	3	2	3	3	2	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:13061546G>T	ENST00000014914.5	+	2	1253	c.363G>T	c.(361-363)aaG>aaT	p.K121N	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	121					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)	GTCTGACCAAGCTCGTCCGGG	0.562																																																	0													151	150	150					12																	13061546		2203	4300	6503	SO:0001583	missense	0			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.363G>T	12.37:g.13061546G>T	ENSP00000014914:p.Lys121Asn		B3KV45|O95357	Missense_Mutation	SNP	pfam_GPCR_3_C	p.K121N	ENST00000014914.5	37	c.363	CCDS8657.1	12	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949821	0.34377	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	D;D	0.87887	-2.31;-2.31	5.63	4.68	0.58851	GPCR, family 3, C-terminal (1);	0.662303	0.15566	N	0.255700	D	0.87997	0.6319	M	0.68952	2.095	0.24562	N	0.993966	P;P	0.50369	0.81;0.934	B;P	0.50537	0.361;0.643	T	0.80146	-0.1504	10	0.33141	T	0.24	-3.1414	9.9359	0.41550	0.081:0.1425:0.7766:0.0	.	121;121	Q8NFJ5;A8K556	RAI3_HUMAN;.	N	121	ENSP00000014914:K121N;ENSP00000441627:K121N	ENSP00000014914:K121N	K	+	3	2	GPRC5A	12952813	0.964000	0.33143	0.876000	0.34364	0.014000	0.08584	1.660000	0.37397	2.659000	0.90383	0.561000	0.74099	AAG	GPRC5A	-	pfam_GPCR_3_C	ENSG00000013588		0.562	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5A	HGNC	protein_coding	OTTHUMT00000400682.1		0	70	0	G			13061546	1			no_errors	ENST00000014914	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.899	T	T	13061546	G	T	13061546	3	4	144	1	0	0	0	0	1	0	0	0	6751	962	34	3	365	3	GPRC5A	12	13061546	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2843333	13061546	120790349	254	36657											
SLCO1B3	28234	genome.wustl.edu	37	chr12	21014003	21014003	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcagaaaattcaacatcaAgtttatcaacctgtttaatt	16	14	3	8	0	4	1	4	0	0	1	4	1	4	1	1	0	2	2	1	0	7	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:21014003A>C	ENST00000381545.3	+	6	631	c.412A>C	c.(412-414)Agt>Cgt	p.S138R	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S138R|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S138R|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.S138R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	138					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCAACATCAAGTTTATCAAC	0.279																																																	0													54	52	53					12																	21014003		2197	4284	6481	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.412A>C	12.37:g.21014003A>C	ENSP00000370956:p.Ser138Arg		E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S138R	ENST00000381545.3	37	c.412	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	A	13.24	2.176805	0.38413	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000540229	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	2.88	0.325	0.15903	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.990483	0.08229	N	0.977823	T	0.35566	0.0936	L	0.46947	1.48	0.09310	N	1	P;B	0.39480	0.675;0.389	B;B	0.43123	0.409;0.213	T	0.33497	-0.9866	10	0.30854	T	0.27	.	3.8203	0.08833	0.6411:0.2219:0.1371:0.0	.	138;138	Q5JAR4;Q9NPD5	.;SO1B3_HUMAN	R	138	ENSP00000442000:S138R;ENSP00000261196:S138R;ENSP00000370956:S138R;ENSP00000451758:S138R;ENSP00000441269:S138R	ENSP00000441269:S138R	S	+	1	0	SLCO1B3;RP11-545J16.1	20905270	0.887000	0.30362	0.024000	0.17045	0.646000	0.38490	2.064000	0.41432	1.192000	0.43071	0.383000	0.25322	AGT	SLCO1B3	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.279	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0	108	0	A	NM_019844		21014003	1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	29.09	117	48	SNP	0.001	C	C	21014003	A	C	21014003	3	2	144	1	0	0	0	0	1	0	0	0	14769	72	3	4	426	4	SLCO1B3	12	21014003	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	7952457	21014003	112837892	255	36658											
C12orf40	283461	genome.wustl.edu	37	chr12	40076539	40076539	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaatacagcatatttggggGaaaaatggaaaggaagtttc	16	10	11	4	0	1	0	1	0	0	0	2	3	1	3	0	4	2	2	0	4	7	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:40076539G>T	ENST00000324616.5	+	8	967	c.813G>T	c.(811-813)ggG>ggT	p.G271G	C12orf40_ENST00000405531.3_Silent_p.G271G|C12orf40_ENST00000398716.1_Silent_p.G194G	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	271										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						ATATTTGGGGGAAAAATGGAA	0.353																																																	0																																										SO:0001819	synonymous_variant	0			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.813G>T	12.37:g.40076539G>T			B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	NULL	p.G271	ENST00000324616.5	37	c.813	CCDS41770.1	12																																																																																			C12orf40	-	NULL	ENSG00000180116		0.353	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	-	0	51	0	G	NM_173599		40076539	1	tier1	-	no_errors	ENST00000324616	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.002	T	T	40076539	G	T	40076539	2	4	144	1	0	0	0	0	0	0	0	1	1691	1161	41	3		3	C12orf40	12	40076539	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	19062536	40076539	93775356	256	36659											
LRRK2	120892	genome.wustl.edu	37	chr12	40643716	40643716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagaatgcagcattgcaGatctcagcgctcagctgttt	10	10	10	11	1	2	2	2	0	1	2	3	3	2	2	1	0	5	6	1	0	1	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:40643716G>T	ENST00000298910.7	+	8	985	c.927G>T	c.(925-927)caG>caT	p.Q309H	LRRK2_ENST00000343742.2_Missense_Mutation_p.Q309H	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	309					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)				CAGCATTGCAGATCTCAGCGC	0.403																																																	0													89	82	84					12																	40643716		2203	4300	6503	SO:0001583	missense	0			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.927G>T	12.37:g.40643716G>T	ENSP00000298910:p.Gln309His		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.Q309H	ENST00000298910.7	37	c.927	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547253	0.27652	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.67171	-0.25;1.27;1.27	5.56	-2.33	0.06724	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	L	0.56769	1.78	0.27931	N	0.937888	D	0.89917	1.0	D	0.87578	0.998	T	0.70655	-0.4812	10	0.72032	D	0.01	.	11.7269	0.51714	0.5424:0.0:0.4576:0.0	.	309	Q5S007	LRRK2_HUMAN	H	193;309;309	ENSP00000398726:Q193H;ENSP00000341930:Q309H;ENSP00000298910:Q309H	ENSP00000298910:Q309H	Q	+	3	2	LRRK2	38929983	0.383000	0.25156	0.008000	0.14137	0.089000	0.18198	-0.236000	0.09003	-0.858000	0.04110	-1.031000	0.02408	CAG	LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.403	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1		0	32	0	G	XM_058513		40643716	1			no_errors	ENST00000298910	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.176	T	T	40643716	G	T	40643716	3	4	144	1	0	0	0	0	1	0	0	0	9068	933	33	3	957	3	LRRK2	12	40643716	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	567177	40643716	93208179	257	36660											
FAM113B	91523	genome.wustl.edu	37	chr12	47630009	47630009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccttcttccccacaccccGttatcagcggcctgccccag	5	8	7	21	2	2	0	1	0	1	0	3	0	3	0	8	1	2	1	8	1	1	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:47630009G>A	ENST00000546455.1	+	4	1894	c.1163G>A	c.(1162-1164)cGt>cAt	p.R388H	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.R388H			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	388	Pro-rich.						hydrolase activity (GO:0016787)										CCCACACCCCGTTATCAGCGG	0.572																																																	0													108	105	106					12																	47630009		2203	4300	6503	SO:0001583	missense	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1163G>A	12.37:g.47630009G>A	ENSP00000446688:p.Arg388His		Q96B20	Missense_Mutation	SNP	NULL	p.R388H	ENST00000546455.1	37	c.1163	CCDS8752.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.172|3.172	-0.169888|-0.169888	0.06461|0.06461	.|.	.|.	ENSG00000179715|ENSG00000179715	ENST00000546455;ENST00000432328|ENST00000330951	T;T|.	0.28255|.	1.62;1.62|.	3.24|3.24	-0.917|-0.917	0.10485|0.10485	.|.	0.971212|.	0.08380|.	N|.	0.954643|.	T|T	0.16428|0.16428	0.0395|0.0395	N|N	0.05078|0.05078	-0.115|-0.115	0.09310|0.09310	N|N	1|1	P|.	0.39326|.	0.668|.	B|.	0.24155|.	0.051|.	T|T	0.22382|0.22382	-1.0218|-1.0218	10|6	0.15066|0.87932	T|D	0.55|0	-1.5804|-1.5804	3.4496|3.4496	0.07493|0.07493	0.3683:0.2005:0.4312:0.0|0.3683:0.2005:0.4312:0.0	.|.	388|.	Q96HM7|.	F113B_HUMAN|.	H|I	388|232	ENSP00000446688:R388H;ENSP00000396040:R388H|.	ENSP00000396040:R388H|ENSP00000328560:V232I	R|V	+|+	2|1	0|0	FAM113B|FAM113B	45916276|45916276	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.854000|-0.854000	0.04299|0.04299	-0.205000|-0.205000	0.10219|0.10219	-0.136000|-0.136000	0.14681|0.14681	CGT|GTT	PCED1B	-	NULL	ENSG00000179715		0.572	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	-	0	54	0	G	NM_138371		47630009	1	tier1	-	no_errors	ENST00000432328	ensembl	human	known	74_37	missense	26.67	21	8	SNP	0.000	A	A	47630009	G	A	47630009	3	1	144	1	0	0	0	0	1	0	0	0	5421	1145	40	1	1165	1	FAM113B	12	47630009	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6986293	47630009	86221886	258	36661											
MLL2	8085	genome.wustl.edu	37	chr12	49433544	49433544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctctgtttggctaaggccgGacatgcctgggtcctgggta	5	11	15	10	1	1	0	0	0	1	0	2	1	2	1	3	5	1	4	3	5	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:49433544G>A	ENST00000301067.7	-	31	8008	c.8009C>T	c.(8008-8010)tCc>tTc	p.S2670F	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2670					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)										GCTAAGGCCGGACATGCCTGG	0.577																																																	0													38	42	41					12																	49433544		2008	4163	6171	SO:0001583	missense	0			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.8009C>T	12.37:g.49433544G>A	ENSP00000301067:p.Ser2670Phe		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S2670F	ENST00000301067.7	37	c.8009	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	6.767	0.510343	0.12883	.	.	ENSG00000167548	ENST00000301067	T	0.79653	-1.29	5.6	5.6	0.85130	.	0.204859	0.24856	N	0.035059	T	0.68732	0.3033	N	0.14661	0.345	0.23784	N	0.996858	B	0.33448	0.412	B	0.34722	0.188	T	0.67063	-0.5765	10	0.87932	D	0	.	13.5629	0.61799	0.0:0.2607:0.7393:0.0	.	2670	O14686	MLL2_HUMAN	F	2670	ENSP00000301067:S2670F	ENSP00000301067:S2670F	S	-	2	0	MLL2	47719811	1.000000	0.71417	0.992000	0.48379	0.878000	0.50629	3.256000	0.51492	2.805000	0.96524	0.655000	0.94253	TCC	KMT2D	-	NULL	ENSG00000167548		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	68	0	G			49433544	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	35.90	25	14	SNP	0.919	A	A	49433544	G	A	49433544	3	1	144	1	0	0	0	0	1	0	0	0	9659	1174	41	3	8700	3	MLL2	12	49433544	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1803535	49433544	84418351	259	36662											
LMBR1L	55716	genome.wustl.edu	37	chr12	49494393	49494393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctccggaagagtggagaGctatagaagcccacaactga	14	5	13	9	1	0	4	0	1	0	3	1	6	1	5	2	3	3	2	2	3	5	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:49494393G>T	ENST00000267102.8	-	14	1461	c.1119C>A	c.(1117-1119)agC>agA	p.S373R	LMBR1L_ENST00000395141.4_Missense_Mutation_p.S368R|LMBR1L_ENST00000547382.1_Missense_Mutation_p.S353R	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	373					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGAGTGGAGAGCTATAGAAGC	0.552																																																	0													49	45	47					12																	49494393		2203	4300	6503	SO:0001583	missense	0			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"limb region 1 homolog (mouse)-like"			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.1119C>A	12.37:g.49494393G>T	ENSP00000267102:p.Ser373Arg		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt	p.S373R	ENST00000267102.8	37	c.1119	CCDS8780.2	12	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278104	0.80692	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000547698;ENST00000395141;ENST00000552449	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.54	2.77	0.32553	LMBR1-like membrane protein (1);	0.111038	0.85682	D	0.000000	T	0.44871	0.1314	M	0.73217	2.22	0.51767	D	0.999938	D;D;P	0.61080	0.983;0.989;0.741	P;P;P	0.58172	0.644;0.834;0.477	T	0.37361	-0.9709	10	0.87932	D	0	0.1718	8.2024	0.31432	0.3111:0.0:0.6889:0.0	.	353;373;368	Q6UX01-3;Q6UX01;Q6UX01-4	.;LMBRL_HUMAN;.	R	373;353;63;368;89	ENSP00000267102:S373R;ENSP00000447329:S353R;ENSP00000448821:S63R;ENSP00000378573:S368R;ENSP00000450362:S89R	ENSP00000267102:S373R	S	-	3	2	LMBR1L	47780660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.175000	0.31944	0.460000	0.27045	0.650000	0.86243	AGC	LMBR1L	-	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt	ENSG00000139636		0.552	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBR1L	HGNC	protein_coding	OTTHUMT00000318696.1	-	0	67	0	G	NM_018113		49494393	-1	tier1	-	no_errors	ENST00000267102	ensembl	human	known	74_37	missense	6.02	78	5	SNP	1.000	T	T	49494393	G	T	49494393	3	4	144	1	0	0	0	0	1	0	0	0	8871	962	34	3	366	3	LMBR1L	12	49494393	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	60849	49494393	84357502	260	36663											
DIP2B	57609	genome.wustl.edu	37	chr12	51089677	51089677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttgcactgggctatgatGgcacatcgggaccaaagaga	12	7	13	9	1	0	2	0	1	0	1	1	5	0	3	1	3	1	3	1	3	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:51089677G>T	ENST00000301180.5	+	16	1894	c.1860G>T	c.(1858-1860)atG>atT	p.M620I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	620						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						GGGCTATGATGGCACATCGGG	0.418																																																	0													207	179	188					12																	51089677		2203	4300	6503	SO:0001583	missense	0			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.1860G>T	12.37:g.51089677G>T	ENSP00000301180:p.Met620Ile		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.M620I	ENST00000301180.5	37	c.1860	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274883	0.59649	.	.	ENSG00000066084	ENST00000301180	T	0.36878	1.23	4.96	4.96	0.65561	AMP-dependent synthetase/ligase (1);	0.038653	0.85682	D	0.000000	T	0.22360	0.0539	N	0.16478	0.41	0.58432	D	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.05289	-1.0894	10	0.26408	T	0.33	-23.8608	11.8113	0.52183	0.0799:0.0:0.9201:0.0	.	620	Q9P265	DIP2B_HUMAN	I	620	ENSP00000301180:M620I	ENSP00000301180:M620I	M	+	3	0	DIP2B	49375944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.826000	0.86716	2.582000	0.87167	0.555000	0.69702	ATG	DIP2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066084		0.418	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1		0	46	0	G	NM_173602		51089677	1			no_errors	ENST00000301180	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	51089677	G	T	51089677	3	4	144	1	0	0	0	0	1	0	0	0	4542	1348	47	3	1922	3	DIP2B	12	51089677	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1595284	51089677	82762218	261	36664											
SMARCC2	6601	genome.wustl.edu	37	chr12	56559127	56559128	+	Frame_Shift_Ins	INS	-	-	G																															gtccaggggggggaacccctINSggtgggactgccccaggctg																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:56559127_56559128insG	ENST00000267064.4	-	26	3199_3200	c.3113_3114insC	c.(3112-3114)ccafs	p.P1038fs	SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.P1069fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1069fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.P1069fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1038	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGAACCCCTGGTGGGACTGC	0.584																																																	0																																										SO:0001589	frameshift_variant	0			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.3114dupC	12.37:g.56559129_56559129dupG	ENSP00000267064:p.Pro1038fs		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.G1039fs	ENST00000267064.4	37	c.3114_3113	CCDS8907.1	12																																																																																			SMARCC2	-	NULL	ENSG00000139613		0.584	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1		0	143	0	0			56559128	-1			no_errors	ENST00000267064	ensembl	human	known	74_37	frame_shift_ins	5.41	140	8	INS	1.000:1.000	G	G	56559128	-	G	56559127	7	5	144	1	0	1	1	0	0	0	0	0	14821	1567	55	0	542	0	SMARCC2	12	56559127	Frame_Shift_Ins	INS	-	TCGA-R6-A6XG-01B-11D-A33E-09	5469450	56559127	77292768	262	36665											
MYO1A	4640	genome.wustl.edu	37	chr12	57432204	57432204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatgtcacctgatgtaGttggggctcttggaatacag	9	11	12	9	0	2	1	1	1	1	0	2	2	2	2	2	3	2	4	2	3	3	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:57432204G>T	ENST00000442789.2	-	18	2039	c.1752C>A	c.(1750-1752)aaC>aaA	p.N584K	MYO1A_ENST00000300119.3_Missense_Mutation_p.N584K|MYO1A_ENST00000544473.1_Missense_Mutation_p.N422K|MYO1A_ENST00000476795.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	584	Actin-binding. {ECO:0000255}.|Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ACCTGATGTAGTTGGGGCTCT	0.547																																																	0													51	47	48					12																	57432204		2203	4300	6503	SO:0001583	missense	0			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1752C>A	12.37:g.57432204G>T	ENSP00000393392:p.Asn584Lys		Q9UQD7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.N584K	ENST00000442789.2	37	c.1752	CCDS8929.1	12	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767321	0.69878	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.71341	-0.56;-0.56;-0.56	4.94	3.11	0.35812	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.83128	0.5187	M	0.84511	2.7	0.46499	D	0.999073	D	0.89917	1.0	D	0.87578	0.998	T	0.82504	-0.0424	10	0.52906	T	0.07	.	9.8519	0.41061	0.1714:0.0:0.8286:0.0	.	584	Q9UBC5	MYO1A_HUMAN	K	584;584;422	ENSP00000300119:N584K;ENSP00000393392:N584K;ENSP00000440514:N422K	ENSP00000300119:N584K	N	-	3	2	MYO1A	55718471	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.581000	0.53914	0.621000	0.30232	0.561000	0.74099	AAC	MYO1A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000166866		0.547	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2		0	52	0	G	NM_005379		57432204	-1			no_errors	ENST00000300119	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	57432204	G	T	57432204	3	4	144	1	0	0	0	0	1	0	0	0	10106	1020	36	3	1427	3	MYO1A	12	57432204	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	873077	57432204	76419691	263	36666											
C12orf64	283310	genome.wustl.edu	37	chr12	80645477	80645477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcactttctagaactGatgatgatgaaacctattgc	11	16	6	8	0	3	5	1	4	2	1	3	5	3	5	1	0	3	0	1	0	4	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:80645477G>T	ENST00000547103.1	+	11	1036	c.1030G>T	c.(1030-1032)Gat>Tat	p.D344Y	OTOGL_ENST00000458043.2_Missense_Mutation_p.D344Y			Q3ZCN5	OTOGL_HUMAN	otogelin-like	344					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						TTCTAGAACTGATGATGATGA	0.448																																																	0													76	69	71					12																	80645477		1938	4140	6078	SO:0001583	missense	0			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.1030G>T	12.37:g.80645477G>T	ENSP00000447211:p.Asp344Tyr		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.D344Y	ENST00000547103.1	37	c.1030		12	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801748	0.31869	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.77229	-1.08;-1.08	5.8	2.47	0.30058	.	.	.	.	.	D	0.83547	0.5278	M	0.77616	2.38	0.45822	D	0.998697	.	.	.	.	.	.	D	0.83643	0.0151	7	0.52906	T	0.07	.	11.8747	0.52539	0.0711:0.2424:0.6866:0.0	.	.	.	.	Y	344	ENSP00000447211:D344Y;ENSP00000400895:D344Y	ENSP00000400895:D344Y	D	+	1	0	OTOGL	79169608	1.000000	0.71417	0.999000	0.59377	0.486000	0.33341	3.717000	0.54911	0.768000	0.33290	0.655000	0.94253	GAT	OTOGL	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000165899		0.448	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1		0	35	0	G	NM_173591		80645477	1			no_errors	ENST00000458043	ensembl	human	known	74_37	missense	8.00	45	4	SNP	1.000	T	T	80645477	G	T	80645477	3	4	144	1	0	0	0	0	1	0	0	0	1712	1290	45	3	1072	3	C12orf64	12	80645477	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	23213273	80645477	53206418	264	36667											
HCFC2	29915	genome.wustl.edu	37	chr12	104492126	104492126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctgaaattagaaagaGactccttcaaatccagtggc	13	12	7	9	0	2	3	1	1	1	2	5	4	4	3	2	1	0	0	2	1	4	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:104492126G>T	ENST00000229330.4	+	13	1850	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	582					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATTAGAAAGAGACTCCTTCAA	0.338																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													34	38	37					12																	104492126		2203	4300	6503	SO:0001583	missense	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1746G>T	12.37:g.104492126G>T	ENSP00000229330:p.Glu582Asp		B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E582D	ENST00000229330.4	37	c.1746	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	G	5.151	0.213372	0.09757	.	.	ENSG00000111727	ENST00000229330	T	0.01804	4.63	5.68	0.0568	0.14321	Fibronectin, type III (3);	0.347447	0.28327	N	0.015756	T	0.00815	0.0027	N	0.04636	-0.2	0.31938	N	0.61129	B	0.02656	0.0	B	0.04013	0.001	T	0.40478	-0.9561	10	0.23302	T	0.38	-16.9573	4.1665	0.10308	0.463:0.0:0.3665:0.1705	.	582	Q9Y5Z7	HCFC2_HUMAN	D	582	ENSP00000229330:E582D	ENSP00000229330:E582D	E	+	3	2	HCFC2	103016256	0.494000	0.26043	0.996000	0.52242	0.987000	0.75469	0.171000	0.16685	0.309000	0.22966	0.650000	0.86243	GAG	HCFC2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000111727		0.338	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	-	0	91	0	G	NM_013320		104492126	1	tier1	-	no_errors	ENST00000229330	ensembl	human	known	74_37	missense	6.61	226	16	SNP	0.465	T	T	104492126	G	T	104492126	3	4	144	1	0	0	0	0	1	0	0	0	7020	933	33	3	1796	3	HCFC2	12	104492126	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	23846649	104492126	29359769	265	36668											
TRPV4	59341	genome.wustl.edu	37	chr12	110240891	110240891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacagggatggtgtcgttgCggccattgctcaggttcagc	6	10	15	10	2	2	0	2	0	0	0	3	1	2	1	1	4	3	4	1	4	0	3	rs373108373		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:110240891C>T	ENST00000418703.2	-	3	711	c.617G>A	c.(616-618)cGc>cAc	p.R206H	TRPV4_ENST00000346520.2_Missense_Mutation_p.R206H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R206H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R206H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R206H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R206H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R206H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R172H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	206					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						GGTGTCGTTGCGGCCATTGCT	0.582																																																	0													133	105	114					12																	110240891		2203	4300	6503	SO:0001583	missense	0			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.617G>A	12.37:g.110240891C>T	ENSP00000406191:p.Arg206His		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.R206H	ENST00000418703.2	37	c.617	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783003	0.31593	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89343	-2.48;-2.48;-2.31;-2.5;-2.32;-2.5;-2.31;-2.48	4.51	2.69	0.31865	.	0.368310	0.31450	N	0.007624	T	0.79311	0.4424	L	0.34521	1.04	0.22947	N	0.998522	B;B;B;B;B	0.19706	0.024;0.008;0.038;0.003;0.004	B;B;B;B;B	0.13407	0.002;0.001;0.009;0.005;0.001	T	0.60667	-0.7218	10	0.15952	T	0.53	-1.4684	7.5579	0.27835	0.0:0.7313:0.0:0.2687	.	206;206;206;206;172	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	H	206;206;206;206;206;206;206;172	ENSP00000406191:R206H;ENSP00000261740:R206H;ENSP00000376480:R206H;ENSP00000319003:R206H;ENSP00000443611:R206H;ENSP00000442738:R206H;ENSP00000442167:R206H;ENSP00000444336:R172H	ENSP00000261740:R206H	R	-	2	0	TRPV4	108725274	0.003000	0.15002	0.959000	0.39883	0.561000	0.35649	0.306000	0.19279	0.475000	0.27415	0.561000	0.74099	CGC	TRPV4	-	tigrfam_TRP_channel	ENSG00000111199		0.582	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	-	0	62	0	C	NM_021625		110240891	-1	tier1	-	no_errors	ENST00000261740	ensembl	human	known	74_37	missense	12.90	54	8	SNP	1.000	T	T	110240891	C	T	110240891	3	4	144	1	0	0	0	0	1	0	0	0	16646	768	27	1	2050	1	TRPV4	12	110240891	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	5748765	110240891	23611004	266	36669											
C12orf51	283450	genome.wustl.edu	37	chr12	112631334	112631334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcctcgccctggtgcaggGtccgggtgatggccacgttg	3	10	15	13	3	1	1	0	1	1	0	4	1	2	1	4	4	1	2	4	4	0	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:112631334G>T	ENST00000430131.2	-	56	8773	c.7628C>A	c.(7627-7629)aCc>aAc	p.T2543N	HECTD4_ENST00000550722.1_Missense_Mutation_p.T2819N|HECTD4_ENST00000377560.5_Missense_Mutation_p.T2793N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2543					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)										CTGGTGCAGGGTCCGGGTGAT	0.552																																																	0													57	62	60					12																	112631334		2025	4184	6209	SO:0001583	missense	0			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.7628C>A	12.37:g.112631334G>T	ENSP00000404379:p.Thr2543Asn		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.T2793N	ENST00000430131.2	37	c.8378		12	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145999	0.77888	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.48836	0.8;0.81;0.8	5.38	5.38	0.77491	.	.	.	.	.	T	0.33147	0.0853	N	0.08118	0	0.49130	D	0.999754	B	0.24186	0.099	B	0.19391	0.025	T	0.21008	-1.0258	9	0.72032	D	0.01	.	19.1362	0.93429	0.0:0.0:1.0:0.0	.	2543	Q9Y4D8	K0614_HUMAN	N	2793;2543;2819	ENSP00000366783:T2793N;ENSP00000404379:T2543N;ENSP00000449784:T2819N	ENSP00000366783:T2793N	T	-	2	0	C12orf51	111115717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.577000	0.82486	2.515000	0.84797	0.591000	0.81541	ACC	HECTD4	-	NULL	ENSG00000173064		0.552	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding			0	68	0	G	NM_173813		112631334	-1			no_errors	ENST00000377560	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	112631334	G	T	112631334	3	4	144	1	0	0	0	0	1	0	0	0	1701	1261	44	3	4442	3	C12orf51	12	112631334	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2390443	112631334	21220561	267	36670											
C12orf51	283450	genome.wustl.edu	37	chr12	112685929	112685929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccagtttcccctgcatgGcatcatcaacttcactttgc	7	14	5	15	0	4	0	3	0	1	0	6	0	5	0	3	1	3	3	3	1	1	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:112685929G>A	ENST00000430131.2	-	26	4069	c.2924C>T	c.(2923-2925)gCc>gTc	p.A975V	HECTD4_ENST00000550722.1_Missense_Mutation_p.A1251V|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1225V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	975					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)										CCCCTGCATGGCATCATCAAC	0.328																																																	0													106	97	100					12																	112685929		1887	4129	6016	SO:0001583	missense	0			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.2924C>T	12.37:g.112685929G>A	ENSP00000404379:p.Ala975Val		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.A1225V	ENST00000430131.2	37	c.3674		12	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252633	0.80135	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.46451	0.87;0.87;0.88	5.79	5.79	0.91817	.	.	.	.	.	T	0.31231	0.0790	N	0.14661	0.345	0.58432	D	0.999994	P	0.37525	0.598	B	0.34824	0.19	T	0.16719	-1.0393	9	0.56958	D	0.05	.	20.0341	0.97551	0.0:0.0:1.0:0.0	.	975	Q9Y4D8	K0614_HUMAN	V	1225;975;1251	ENSP00000366783:A1225V;ENSP00000404379:A975V;ENSP00000449784:A1251V	ENSP00000366783:A1225V	A	-	2	0	C12orf51	111170312	1.000000	0.71417	0.996000	0.52242	0.855000	0.48748	9.154000	0.94694	2.753000	0.94483	0.555000	0.69702	GCC	HECTD4	-	NULL	ENSG00000173064		0.328	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding			0	28	0	G	NM_173813		112685929	-1			no_errors	ENST00000377560	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A	A	112685929	G	A	112685929	3	1	144	1	0	0	0	0	1	0	0	0	1701	1203	42	3	9266	3	C12orf51	12	112685929	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	54595	112685929	21165966	268	36671											
MLEC	9761	genome.wustl.edu	37	chr12	121125148	121125150	+	In_Frame_Del	DEL	CTG	CTG	-																															ccgctgtggcgctcctgcgaCtgctgctgctgctgctgccg																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:121125148_121125150delCTG	ENST00000228506.3	+	1	477_479	c.49_51delCTG	c.(49-51)ctgdel	p.L22del	MLEC_ENST00000412616.2_In_Frame_Del_p.L22del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	22					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gctcctgcgactgctgctgctgc	0.783																																																	0										47,1473		16,15,729						-1.8	1			2	80,3128		23,34,1547	no	coding	MLEC	NM_014730.2		39,49,2276	A1A1,A1R,RR		2.4938,3.0921,2.6861				127,4601				SO:0001651	inframe_deletion	0			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.49_51delCTG	12.37:g.121125157_121125159delCTG	ENSP00000228506:p.Leu22del			In_Frame_Del	DEL	pfam_Malectin	p.L20in_frame_del	ENST00000228506.3	37	c.49_51	CCDS9206.1	12																																																																																			MLEC	-	NULL	ENSG00000110917		0.783	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLEC	HGNC	protein_coding	OTTHUMT00000402781.2		0	26	0	CTG	NM_014730		121125150	1	tier1		no_errors	ENST00000228506	ensembl	human	known	74_37	in_frame_del	13.79	25	4	DEL	1.000:1.000:1.000	-	-	121125150	CTG	-	121125148	7	5	144	1	0	1	0	1	0	0	0	0	9651	564	20	0	51	0	MLEC	12	121125148	In_Frame_Del	DEL	CTG	TCGA-R6-A6XG-01B-11D-A33E-09	8439219	121125148	12726747	269	36672											
ANAPC5	51433	genome.wustl.edu	37	chr12	121775130	121775130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggattaaatttcaacaaattGtttaattccttctgcaagga	14	15	6	6	0	2	0	1	0	1	0	3	2	3	2	1	2	2	2	1	2	6	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:121775130G>T	ENST00000261819.3	-	6	844	c.723C>A	c.(721-723)aaC>aaA	p.N241K	ANAPC5_ENST00000441917.2_Missense_Mutation_p.N142K|ANAPC5_ENST00000536366.1_Missense_Mutation_p.N120K|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N241K|ANAPC5_ENST00000544314.1_5'Flank|ANAPC5_ENST00000344395.4_Missense_Mutation_p.N142K	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	241					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)					TCAACAAATTGTTTAATTCCT	0.363																																																	0													102	105	104					12																	121775130		2203	4300	6503	SO:0001583	missense	0			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.723C>A	12.37:g.121775130G>T	ENSP00000261819:p.Asn241Lys		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	smart_TPR_repeat	p.N241K	ENST00000261819.3	37	c.723	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	G	15.86	2.959221	0.53400	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.64	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.55481	1.735	0.58432	D	0.999997	D;D	0.62365	0.978;0.991	P;P	0.49922	0.531;0.626	T	0.13361	-1.0512	10	0.27785	T	0.31	.	10.2721	0.43489	0.211:0.0:0.789:0.0	.	142;241	E9PFB2;Q9UJX4	.;APC5_HUMAN	K	142;241;241;142;120;142	ENSP00000415061:N142K;ENSP00000439875:N241K;ENSP00000261819:N241K;ENSP00000343787:N142K;ENSP00000445310:N120K;ENSP00000440800:N142K	ENSP00000261819:N241K	N	-	3	2	ANAPC5	120259513	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	1.222000	0.32515	1.523000	0.49018	0.563000	0.77884	AAC	ANAPC5	-	NULL	ENSG00000089053		0.363	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	HGNC	protein_coding	OTTHUMT00000402582.1	-	0	50	0	G			121775130	-1	tier1	-	no_errors	ENST00000261819	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	121775130	G	T	121775130	3	4	144	1	0	0	0	0	1	0	0	0	605	1368	48	3	1592	3	ANAPC5	12	121775130	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	649982	121775130	12076765	270	36673											
SCARB1	949	genome.wustl.edu	37	chr12	125348162	125348162	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggacctgctgcttgatGagcgacggcaccatcacgat	10	9	11	11	3	1	2	1	2	0	0	1	5	1	3	2	2	3	3	2	2	1	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:125348162G>T	ENST00000415380.2	-	1	230	c.105C>A	c.(103-105)ctC>ctA	p.L35L	SCARB1_ENST00000261693.6_Silent_p.L35L|SCARB1_ENST00000546215.1_Silent_p.L35L|SCARB1_ENST00000376788.1_Silent_p.L35L|SCARB1_ENST00000339570.5_Silent_p.L35L|SCARB1_ENST00000535005.1_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	35					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)	GCTGCTTGATGAGCGACGGCA	0.721																																																	0													26	23	24					12																	125348162		2201	4300	6501	SO:0001819	synonymous_variant	0			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.105C>A	12.37:g.125348162G>T			F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.L35	ENST00000415380.2	37	c.105		12																																																																																			SCARB1	-	pfam_CD36	ENSG00000073060		0.721	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1	-	0	111	0	G	NM_005505		125348162	-1	tier1	-	no_errors	ENST00000415380	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.988	T	T	125348162	G	T	125348162	2	4	144	1	0	0	0	0	0	0	0	1	13926	1277	45	3		3	SCARB1	12	125348162	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3573032	125348162	8503733	271	36674											
EP400	57634	genome.wustl.edu	37	chr12	132512805	132512805	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgacgctttgtcggtgtGgagagtctctgcaggatgtt	5	15	15	6	2	1	2	0	1	1	1	3	4	1	3	0	3	1	4	0	3	0	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr12:132512805G>T	ENST00000333577.4	+	28	5570	c.5461G>T	c.(5461-5463)Gga>Tga	p.G1821*	EP400_ENST00000389561.2_Nonsense_Mutation_p.G1785*|EP400_ENST00000330386.6_Nonsense_Mutation_p.G1704*|EP400_ENST00000389562.2_Nonsense_Mutation_p.G1784*|EP400_ENST00000332482.4_Nonsense_Mutation_p.G1748*|SNORA49_ENST00000386157.1_RNA			Q96L91	EP400_HUMAN	E1A binding protein p400	1821					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)		TTGTCGGTGTGGAGAGTCTCT	0.567																																																	0													184	159	168					12																	132512805		2203	4300	6503	SO:0001587	stop_gained	0			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.5461G>T	12.37:g.132512805G>T	ENSP00000333602:p.Gly1821*		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G1821*	ENST00000333577.4	37	c.5461		12	.	.	.	.	.	.	.	.	.	.	G	44	10.558655	0.99427	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	.	.	.	5.97	0.419	0.16438	.	1.436090	0.04193	N	0.328659	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	7.3877	0.26893	0.2805:0.5653:0.0844:0.0697	.	.	.	.	X	1821;1785;1784;1748;1704;1785;1704	.	ENSP00000330620:G1704X	G	+	1	0	EP400	131078758	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.291000	0.18994	-0.140000	0.11394	-0.802000	0.03209	GGA	EP400	-	NULL	ENSG00000183495		0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding			0	124	0	G	NM_015409		132512805	1			no_errors	ENST00000333577	ensembl	human	known	74_37	nonsense	5.43	87	5	SNP	0.000	T	T	132512805	G	T	132512805	4	4	144	1	0	0	0	0	0	1	0	0	5165	1349	47	3	5452	3	EP400	12	132512805	Nonsense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	7164643	132512805	1339090	272	36675											
TUBA3C	7278	genome.wustl.edu	37	chr13	19751215	19751215	+	Missense_Mutation	SNP	A	A	G	1	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	cgtggcgagggtcacacttgAccatctgattggctggctcg	6	10	14	11	3	2	2	1	2	1	0	3	3	2	2	1	4	0	2	1	4	0	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr13:19751215A>G	ENST00000400113.3	-	4	1012	c.908T>C	c.(907-909)gTc>gCc	p.V303A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	303					'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)		GTCACACTTGACCATCTGATT	0.602																																																	0													168	144	152					13																	19751215		2203	4300	6503	SO:0001583	missense	0			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.908T>C	13.37:g.19751215A>G	ENSP00000382982:p.Val303Ala		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.V303A	ENST00000400113.3	37	c.908	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	a	11.68	1.710104	0.30322	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84146	-1.81	1.21	1.21	0.21127	.	0.000000	0.42294	U	0.000739	D	0.83991	0.5374	.	.	.	0.39940	D	0.974408	.	.	.	.	.	.	T	0.80944	-0.1156	7	0.45353	T	0.12	.	6.5532	0.22446	1.0:0.0:0.0:0.0	.	.	.	.	A	303	ENSP00000382982:V303A	ENSP00000354037:V303A	V	-	2	0	TUBA3C	18649215	1.000000	0.71417	0.998000	0.56505	0.661000	0.39034	7.474000	0.81024	0.809000	0.34255	0.155000	0.16302	GTC	TUBA3C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom	ENSG00000198033		0.602	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0	184	0	A	NM_006001		19751215	-1	tier1	-	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	12.96	141	21	SNP	1.000	G	G	19751215	A	G	19751215	3	3	144	1	0	0	0	0	1	0	0	0	16795	275	10	4	452	4	TUBA3C	13	19751215	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09		19751215	95418663	273	36676											
TPTE2	93492	genome.wustl.edu	37	chr13	20038637	20038637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agactgccttccagaagatgGaaatgacatagcaataatac	17	8	8	8	0	0	4	0	1	0	3	1	5	1	5	2	1	3	1	2	1	6	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr13:20038637G>T	ENST00000400230.2	-	10	744	c.700C>A	c.(700-702)Cca>Aca	p.P234T	TPTE2_ENST00000457266.2_Missense_Mutation_p.P123T|TPTE2_ENST00000382978.1_Missense_Mutation_p.P194T|TPTE2_ENST00000255310.6_Missense_Mutation_p.P157T|TPTE2_ENST00000390680.2_Missense_Mutation_p.P157T|TPTE2_ENST00000382975.4_Missense_Mutation_p.P194T|TPTE2_ENST00000382977.4_Missense_Mutation_p.P234T|TPTE2_ENST00000400103.2_Missense_Mutation_p.P123T			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	234	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCAGAAGATGGAAATGACATA	0.294																																																	0													98	93	95					13																	20038637		2203	4297	6500	SO:0001583	missense	0			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.700C>A	13.37:g.20038637G>T	ENSP00000383089:p.Pro234Thr		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.P234T	ENST00000400230.2	37	c.700	CCDS45014.1	13	.	.	.	.	.	.	.	.	.	.	g	10.53	1.376647	0.24857	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.99388	-5.81;-5.81;-5.81;-5.81;-5.81;-5.81;-5.81;-5.81	2.73	2.73	0.32206	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.98276	4.19	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97855	1.0277	9	.	.	.	-22.8043	9.1217	0.36791	0.0:0.0:1.0:0.0	.	123;157;234	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	T	194;123;234;157;157;234;194;123;234;103	ENSP00000372438:P194T;ENSP00000382974:P123T;ENSP00000383089:P234T;ENSP00000255310:P157T;ENSP00000375098:P157T;ENSP00000372437:P234T;ENSP00000372435:P194T;ENSP00000442218:P123T	.	P	-	1	0	TPTE2	18936637	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	6.542000	0.73869	1.831000	0.53308	0.467000	0.42956	CCA	TPTE2	-	pfscan_Phosphatase_tensin-typ	ENSG00000132958		0.294	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding			0	76	0	G	NM_199254		20038637	-1			no_errors	ENST00000382977	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	20038637	G	T	20038637	3	4	144	1	0	0	0	0	1	0	0	0	16479	1174	41	3	912	3	TPTE2	13	20038637	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	287422	20038637	95131241	274	36677											
LATS2	26524	genome.wustl.edu	37	chr13	21562256	21562256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcttttgcggctcttgtCgccgccctcgggctcgttgg	0	12	15	14	6	1	0	0	0	1	0	4	0	1	0	2	4	1	4	2	4	0	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr13:21562256C>A	ENST00000382592.4	-	4	2068	c.1663G>T	c.(1663-1665)Gac>Tac	p.D555Y	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Missense_Mutation_p.D555Y	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)		CGGCTCTTGTCGCCGCCCTCG	0.622																																																	0													106	106	106					13																	21562256		2203	4300	6503	SO:0001583	missense	0			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.1663G>T	13.37:g.21562256C>A	ENSP00000372035:p.Asp555Tyr			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.D555Y	ENST00000382592.4	37	c.1663	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422066	0.25639	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.60040	0.22;0.22	4.2	2.44	0.29823	.	1.491440	0.03667	N	0.243440	T	0.45796	0.1360	N	0.08118	0	0.20196	N	0.999923	D	0.57257	0.979	P	0.49477	0.612	T	0.39396	-0.9616	10	0.42905	T	0.14	.	5.8524	0.18699	0.0:0.6586:0.1689:0.1725	.	555	Q9NRM7	LATS2_HUMAN	Y	555	ENSP00000372035:D555Y;ENSP00000441817:D555Y	ENSP00000372035:D555Y	D	-	1	0	LATS2	20460256	0.434000	0.25570	0.002000	0.10522	0.055000	0.15305	1.268000	0.33062	0.419000	0.25927	0.478000	0.44815	GAC	LATS2	-	NULL	ENSG00000150457		0.622	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	-	0	130	0	C			21562256	-1	tier1	-	no_errors	ENST00000382592	ensembl	human	known	74_37	missense	32.14	57	27	SNP	0.432	A	A	21562256	C	A	21562256	3	1	144	1	0	0	0	0	1	0	0	0	8675	884	31	2	1623	2	LATS2	13	21562256	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	1523619	21562256	93607622	275	36678											
ATP8A2	51761	genome.wustl.edu	37	chr13	26104741	26104741	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggaagatataccaccctGgtgccattgatcattatttt	12	13	7	9	0	1	2	1	1	0	1	1	3	1	3	3	2	2	0	3	2	4	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr13:26104741G>T	ENST00000381655.2	+	4	505	c.363G>T	c.(361-363)ctG>ctT	p.L121L	ATP8A2_ENST00000255283.8_Silent_p.L81L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	81					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)		ATACCACCCTGGTGCCATTGA	0.358																																																	0													87	75	79					13																	26104741		1816	4080	5896	SO:0001819	synonymous_variant	0			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.363G>T	13.37:g.26104741G>T			Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L121	ENST00000381655.2	37	c.363	CCDS41873.1	13																																																																																			ATP8A2	-	tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000132932		0.358	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	-	0	32	0	G	NM_016529		26104741	1	tier1	-	no_errors	ENST00000381655	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	T	T	26104741	G	T	26104741	2	4	144	1	0	0	0	0	0	0	0	1	1194	1335	47	3		3	ATP8A2	13	26104741	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	4542485	26104741	89065137	276	36679											
FAM48A	55578	genome.wustl.edu	37	chr13	37595648	37595648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagacctcctgagggtaGaaggccgctcaggtttattc	9	10	12	10	1	1	3	1	1	0	2	3	3	2	3	3	3	1	4	3	3	4	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr13:37595648G>T	ENST00000350612.6	-	21	1973	c.1753C>A	c.(1753-1755)Cta>Ata	p.L585I	SUPT20H_ENST00000360252.4_Missense_Mutation_p.L586I|SUPT20H_ENST00000464744.1_Missense_Mutation_p.L586I|SUPT20H_ENST00000475892.1_Missense_Mutation_p.L664I|SUPT20H_ENST00000356185.3_Missense_Mutation_p.L586I	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	585					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CCTGAGGGTAGAAGGCCGCTC	0.502																																																	0													55	48	50					13																	37595648		2203	4300	6503	SO:0001583	missense	0			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1753C>A	13.37:g.37595648G>T	ENSP00000218894:p.Leu585Ile		E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	pfam_Spt20	p.L585I	ENST00000350612.6	37	c.1753	CCDS31959.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.44|18.44	3.624960|3.624960	0.66901|0.66901	.|.	.|.	ENSG00000102710|ENSG00000102710	ENST00000469488|ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744	.|T;T;T;T;T	.|0.63744	.|0.33;-0.06;0.95;0.33;0.33	5.73|5.73	4.77|4.77	0.60923|0.60923	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.72843|0.72843	0.3511|0.3511	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.997;1.0;0.998;1.0;0.998	.|D;D;D;D;D	.|0.78314	.|0.991;0.94;0.956;0.94;0.956	T|T	0.72988|0.72988	-0.4124|-0.4124	5|10	.|0.36615	.|T	.|0.2	-8.989|-8.989	3.7536|3.7536	0.08576|0.08576	0.3339:0.0:0.6661:0.0|0.3339:0.0:0.6661:0.0	.|.	.|664;586;586;585;585	.|E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46	.|.;.;.;FA48A_HUMAN;.	L|I	139|586;664;585;586;585;586	.|ENSP00000353388:L586I;ENSP00000417510:L664I;ENSP00000218894:L585I;ENSP00000348512:L586I;ENSP00000419754:L586I	.|ENSP00000218894:L585I	F|L	-|-	3|1	2|2	FAM48A|FAM48A	36493648|36493648	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.923000|0.923000	0.55619|0.55619	3.805000|3.805000	0.55575|0.55575	2.720000|2.720000	0.93068|0.93068	0.591000|0.591000	0.81541|0.81541	TTC|CTA	SUPT20H	-	NULL	ENSG00000102710		0.502	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT20H	HGNC	protein_coding	OTTHUMT00000354766.1		0	23	0	G	NM_017569		37595648	-1			no_errors	ENST00000350612	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	37595648	G	T	37595648	3	4	144	1	0	0	0	0	1	0	0	0	5594	933	33	3	610	3	FAM48A	13	37595648	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	11490907	37595648	77574230	277	36680											
DIAPH3	81624	genome.wustl.edu	37	chr13	60435609	60435609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tatcagggtacttctcttcaCatatttctaccaggaaatga	12	14	6	9	0	4	1	2	1	2	0	5	2	4	2	1	2	2	1	1	2	5	7	rs74451107		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr13:60435609C>T	ENST00000400324.4	-	22	2889	c.2669G>A	c.(2668-2670)tGt>tAt	p.C890Y	DIAPH3_ENST00000400319.1_Missense_Mutation_p.C820Y|DIAPH3_ENST00000400320.1_Missense_Mutation_p.C844Y|DIAPH3_ENST00000377908.2_Missense_Mutation_p.C879Y|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.C890Y|DIAPH3_ENST00000400330.1_Missense_Mutation_p.C890Y	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	890	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)		CTTCTCTTCACATATTTCTAC	0.358																																																	0													148	136	140					13																	60435609		1831	4083	5914	SO:0001583	missense	0			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.2669G>A	13.37:g.60435609C>T	ENSP00000383178:p.Cys890Tyr		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.C890Y	ENST00000400324.4	37	c.2669	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388048	0.82902	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.38	5.38	0.77491	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	M	0.67625	2.065	0.52501	D	0.999957	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.987;0.996;1.0	T	0.33394	-0.9870	10	0.87932	D	0	.	19.1314	0.93408	0.0:1.0:0.0:0.0	.	627;627;890	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	Y	890;890;879;844;820;879;820;844;890;627;890	ENSP00000383178:C890Y;ENSP00000383184:C890Y;ENSP00000367141:C879Y;ENSP00000383173:C820Y;ENSP00000383174:C844Y;ENSP00000267215:C890Y	ENSP00000267214:C627Y	C	-	2	0	DIAPH3	59333610	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.487000	0.81328	2.536000	0.85505	0.561000	0.74099	TGT	DIAPH3	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000139734		0.358	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	-	0	50	0	C	NM_001042517		60435609	-1	tier1	-	no_errors	ENST00000400324	ensembl	human	known	74_37	missense	18.03	100	22	SNP	1.000	T	T	60435609	C	T	60435609	3	4	144	1	0	0	0	0	1	0	0	0	4534	478	17	3	960	3	DIAPH3	13	60435609	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	22839961	60435609	54734269	278	36681											
MYCBP2	23077	genome.wustl.edu	37	chr13	77663012	77663012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttccttagggcctgtttCattgctatttcaagaccttc	7	17	7	10	0	2	1	2	0	0	1	4	2	3	1	3	1	1	2	3	1	3	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr13:77663012C>A	ENST00000544440.2	-	61	10583	c.10566G>T	c.(10564-10566)atG>atT	p.M3522I	MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M3522I|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.M3560I|MYCBP2-AS1_ENST00000448470.2_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGGCCTGTTTCATTGCTATTT	0.368																																																	0													97	97	97					13																	77663012		2203	4300	6503	SO:0001583	missense	0			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.10566G>T	13.37:g.77663012C>A	ENSP00000444596:p.Met3522Ile			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.M3560I	ENST00000544440.2	37	c.10680		13	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987958	0.74589	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.36157	1.28;1.27;1.28	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	L	0.41492	1.28	0.80722	D	1	P	0.35872	0.525	P	0.45428	0.48	T	0.38436	-0.9661	10	0.72032	D	0.01	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	3522	O75592	MYCB2_HUMAN	I	3522;3560;3522	ENSP00000349892:M3522I;ENSP00000384288:M3560I;ENSP00000444596:M3522I	ENSP00000349892:M3522I	M	-	3	0	MYCBP2	76561013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.809000	0.86057	2.644000	0.89710	0.563000	0.77884	ATG	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.368	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	39	0	C	NM_015057		77663012	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	A	A	77663012	C	A	77663012	3	1	144	1	0	0	0	0	1	0	0	0	10056	826	29	3	3448	3	MYCBP2	13	77663012	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	17227403	77663012	37506866	279	36682											
SLITRK5	26050	genome.wustl.edu	37	chr13	88329844	88329844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgcgcacgtgcatcaccGcgggcccgcgctgcccaagg	7	3	13	18	7	1	0	1	0	0	0	1	0	1	0	3	2	2	3	3	2	1	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr13:88329844G>A	ENST00000325089.6	+	2	2420	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R493H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	734					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTGCATCACCGCGGGCCCGCG	0.657																																																	0													40	44	43					13																	88329844		2198	4291	6489	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2201G>A	13.37:g.88329844G>A	ENSP00000366283:p.Arg734His		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R734H	ENST00000325089.6	37	c.2201	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118532	0.56505	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58358	0.34;0.68	4.71	4.71	0.59529	.	0.198849	0.40469	U	0.001097	T	0.35941	0.0949	N	0.19112	0.55	0.35520	D	0.801326	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.38972	-0.9636	9	.	.	.	-10.9319	13.1547	0.59509	0.0:0.0:1.0:0.0	.	493;734	B4DSH5;O94991	.;SLIK5_HUMAN	H	734;493	ENSP00000366283:R734H;ENSP00000442244:R493H	.	R	+	2	0	SLITRK5	87127845	0.978000	0.34361	1.000000	0.80357	0.682000	0.39822	-0.017000	0.12590	2.131000	0.65755	0.555000	0.69702	CGC	SLITRK5	-	NULL	ENSG00000165300		0.657	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0	41	0	G			88329844	1	tier1	-	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	A	A	88329844	G	A	88329844	3	1	144	1	0	0	0	0	1	0	0	0	14791	1087	38	1	2203	1	SLITRK5	13	88329844	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	10666832	88329844	26840034	280	36683											
DCT	1638	genome.wustl.edu	37	chr13	95092239	95092239	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcttctatattgaagaaaAgccaacagcacaaaaagacc	19	7	6	9	0	2	3	0	1	2	2	2	3	2	3	2	0	3	1	2	0	8	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr13:95092239A>G	ENST00000377028.5	-	8	1886	c.1473T>C	c.(1471-1473)gcT>gcC	p.A491A	DCT_ENST00000446125.1_Silent_p.A524A	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	491					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)		ATTGAAGAAAAGCCAACAGCA	0.438																																																	0													102	102	102					13																	95092239		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1473T>C	13.37:g.95092239A>G			Q09GT4	Silent	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.A524	ENST00000377028.5	37	c.1572	CCDS9470.1	13																																																																																			DCT	-	NULL	ENSG00000080166		0.438	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	-	0	34	0	A			95092239	-1	tier1	-	no_errors	ENST00000446125	ensembl	human	known	74_37	silent	58.49	22	31	SNP	0.003	G	G	95092239	A	G	95092239	2	3	144	1	0	0	0	0	0	0	0	1	4313	59	3	4		4	DCT	13	95092239	Silent	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	6762395	95092239	20077639	281	36684											
IPO4	79711	genome.wustl.edu	37	chr14	24657939	24657939	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtacccgacggatgcgctCggtgtccggtagcagcagct	6	7	14	14	6	0	0	0	0	0	0	2	2	1	1	3	3	5	6	3	3	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr14:24657939C>A	ENST00000354464.6	-	1	231	c.55G>T	c.(55-57)Gag>Tag	p.E19*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	19					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)		CGGATGCGCTCGGTGTCCGGT	0.687																																																	0													8	11	10					14																	24657939		1955	4114	6069	SO:0001587	stop_gained	0			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.55G>T	14.37:g.24657939C>A	ENSP00000346453:p.Glu19*		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Nonsense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.E19*	ENST00000354464.6	37	c.55	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	C	38	6.646056	0.97730	.	.	ENSG00000196497	ENST00000354464	.	.	.	6.08	3.08	0.35506	.	0.303702	0.32015	N	0.006703	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-4.5519	7.662	0.28409	0.0:0.5997:0.3167:0.0836	.	.	.	.	X	19	.	ENSP00000346453:E19X	E	-	1	0	IPO4	23727779	0.489000	0.26004	1.000000	0.80357	0.979000	0.70002	1.887000	0.39698	0.876000	0.35872	0.655000	0.94253	GAG	IPO4	-	superfamily_ARM-type_fold	ENSG00000196497		0.687	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	-	0	76	0	C	NM_024658		24657939	-1	tier1	-	no_errors	ENST00000354464	ensembl	human	known	74_37	nonsense	6.86	95	7	SNP	0.997	A	A	24657939	C	A	24657939	4	1	144	1	0	0	0	0	0	1	0	0	7822	893	31	2	3310	2	IPO4	14	24657939	Nonsense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09		24657939	82691601	282	36685											
SNX6	58533	genome.wustl.edu	37	chr14	35032375	35032375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttctgcagcaactgtaGattaccctaaaaaaggaaga	16	8	9	8	0	1	2	0	0	1	2	1	3	1	3	1	1	4	5	1	1	7	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr14:35032375G>T	ENST00000362031.4	-	14	1240	c.1210C>A	c.(1210-1212)Cta>Ata	p.L404I	SNX6_ENST00000355110.5_Missense_Mutation_p.L280I|RP11-671J11.4_ENST00000554608.1_RNA|RP11-671J11.4_ENST00000555361.1_RNA|SNX6_ENST00000396534.3_Missense_Mutation_p.L276I|SNX6_ENST00000396526.3_Missense_Mutation_p.L276I	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	392					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)		AGCAACTGTAGATTACCCTAA	0.343																																																	0													60	58	58					14																	35032375		2203	4300	6503	SO:0001583	missense	0			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.1210C>A	14.37:g.35032375G>T	ENSP00000355217:p.Leu404Ile		C0H5W9|Q9Y449	Missense_Mutation	SNP	pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.L404I	ENST00000362031.4	37	c.1210	CCDS41942.1	14	.	.	.	.	.	.	.	.	.	.	G	5.549	0.286125	0.10513	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.37	3.46	0.39613	Vps5 C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.20536	0.0494	N	0.10874	0.06	0.52501	D	0.999958	D;D	0.57257	0.979;0.979	D;D	0.71414	0.973;0.973	T	0.29243	-1.0018	10	0.09590	T	0.72	-6.0194	3.8689	0.09029	0.3451:0.0:0.6549:0.0	.	280;392	B4DJS7;Q9UNH7	.;SNX6_HUMAN	I	276;276;404;280	ENSP00000379779:L276I;ENSP00000379785:L276I;ENSP00000355217:L404I;ENSP00000347230:L280I	ENSP00000347230:L280I	L	-	1	2	SNX6	34102126	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	4.719000	0.61937	2.360000	0.80028	0.462000	0.41574	CTA	SNX6	-	pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6	ENSG00000129515		0.343	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	SNX6	HGNC	protein_coding	OTTHUMT00000276642.3	-	0	50	0	G			35032375	-1	tier1	-	no_errors	ENST00000362031	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	35032375	G	T	35032375	3	4	144	1	0	0	0	0	1	0	0	0	14951	933	33	3	50	3	SNX6	14	35032375	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	10374436	35032375	72317165	283	36686											
C14orf43	91748	genome.wustl.edu	37	chr14	74203747	74203747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcgggtggaccgcctgcggGtgacgatgactgatggcttg	5	10	17	9	4	0	3	0	3	0	0	1	5	0	4	2	4	1	1	2	4	0	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr14:74203747G>A	ENST00000286523.5	-	3	2485	c.1703C>T	c.(1702-1704)aCc>aTc	p.T568I	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.T568I|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	568					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CCGCCTGCGGGTGACGATGAC	0.622																																																	0													82	71	75					14																	74203747		2203	4300	6503	SO:0001583	missense	0			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.1703C>T	14.37:g.74203747G>A	ENSP00000286523:p.Thr568Ile		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.T568I	ENST00000286523.5	37	c.1703	CCDS9819.1	14	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888233	0.91814	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.16897	2.32;2.32;2.32;2.31	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.30823	0.0777	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	T	0.01729	-1.1286	10	0.59425	D	0.04	-27.6493	17.1775	0.86845	0.0:0.0:1.0:0.0	.	568;568	A0PJD3;Q6PJG2	.;CN043_HUMAN	I	568	ENSP00000377634:T568I;ENSP00000286523:T568I;ENSP00000407767:T568I;ENSP00000402380:T568I	ENSP00000286523:T568I	T	-	2	0	C14orf43	73273500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.890000	0.92477	2.732000	0.93576	0.655000	0.94253	ACC	ELMSAN1	-	NULL	ENSG00000156030		0.622	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	-	0	105	0	G	NM_194278		74203747	-1	tier1	-	no_errors	ENST00000286523	ensembl	human	known	74_37	missense	12.50	105	15	SNP	1.000	A	A	74203747	G	A	74203747	3	1	144	1	0	0	0	0	1	0	0	0	1779	1261	44	3	1474	3	C14orf43	14	74203747	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	39171372	74203747	33145793	284	36687											
FOS	2353	genome.wustl.edu	37	chr14	75748089	75748089	+	Missense_Mutation	SNP	T	T	C	0	1	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	gcagcagcaatgagccttccTctgactcgctcagctcaccc	8	8	8	17	1	3	2	2	2	1	0	5	2	4	2	3	0	4	5	3	0	1	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr14:75748089T>C	ENST00000303562.4	+	4	1314	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	FOS_ENST00000555347.1_Missense_Mutation_p.S221P|FOS_ENST00000535987.1_Missense_Mutation_p.S333P|FOS_ENST00000555686.1_Missense_Mutation_p.S255P	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	369					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	TGAGCCTTCCTCTGACTCGCT	0.642																																																	0													35	36	35					14																	75748089		2202	4300	6502	SO:0001583	missense	0			K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"basic leucine zipper proteins"	3796	protein-coding gene	gene with protein product		164810	"v-fos FBJ murine osteosarcoma viral oncogene homolog"			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.1105T>C	14.37:g.75748089T>C	ENSP00000306245:p.Ser369Pro		A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.S369P	ENST00000303562.4	37	c.1105	CCDS9841.1	14	.	.	.	.	.	.	.	.	.	.	T	17.00	3.276102	0.59649	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555347	T;T;T	0.70749	0.16;0.56;-0.51	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	M	0.69248	2.105	0.58432	D	0.999999	P;D	0.71674	0.518;0.998	B;D	0.75484	0.204;0.986	D	0.84672	0.0712	10	0.87932	D	0	-26.0367	15.5464	0.76104	0.0:0.0:0.0:1.0	.	333;369	B4DQ65;P01100	.;FOS_HUMAN	P	369;333;255;221	ENSP00000306245:S369P;ENSP00000442268:S333P;ENSP00000452590:S255P	ENSP00000306245:S369P	S	+	1	0	FOS	74817842	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.066000	0.64351	2.155000	0.67459	0.533000	0.62120	TCT	FOS	-	NULL	ENSG00000170345		0.642	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOS	HGNC	protein_coding	OTTHUMT00000415044.1	-	0	47	0	T	NM_005252		75748089	1	tier1	-	no_errors	ENST00000303562	ensembl	human	known	74_37	missense	67.65	11	23	SNP	1.000	C	C	75748089	T	C	75748089	3	2	144	1	0	0	0	0	1	0	0	0	6007	1551	54	4	1119	4	FOS	14	75748089	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	1544342	75748089	31601451	285	36688											
ALKBH1	8846	genome.wustl.edu	37	chr14	78140430	78140430	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggcagtgaggcaggccttCcccttctggatttggaagga	8	10	14	9	0	1	1	0	1	1	0	2	4	2	4	3	6	0	2	3	6	2	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr14:78140430C>A	ENST00000216489.3	-	6	910	c.895G>T	c.(895-897)Gaa>Taa	p.E299*		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	299	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GGCAGGCCTTCCCCTTCTGGA	0.557																																																	0													66	62	64					14																	78140430		2203	4300	6503	SO:0001587	stop_gained	0			X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.895G>T	14.37:g.78140430C>A	ENSP00000216489:p.Glu299*		Q8TAU1|Q9ULA7	Nonsense_Mutation	SNP	tigrfam_Alkb	p.E299*	ENST00000216489.3	37	c.895	CCDS32127.1	14	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145712	0.57044	.	.	ENSG00000100601	ENST00000216489	.	.	.	5.95	4.97	0.65823	.	0.658363	0.16705	N	0.202942	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-29.0722	7.2155	0.25957	0.0:0.8164:0.0:0.1836	.	.	.	.	X	299	.	ENSP00000216489:E299X	E	-	1	0	ALKBH1	77210183	0.000000	0.05858	0.391000	0.26233	0.781000	0.44180	1.061000	0.30542	2.824000	0.97209	0.655000	0.94253	GAA	ALKBH1	-	NULL	ENSG00000100601		0.557	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH1	HGNC	protein_coding	OTTHUMT00000414037.1		0	56	0	C	NM_006020		78140430	-1			no_errors	ENST00000216489	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	0.293	A	A	78140430	C	A	78140430	4	1	144	1	0	0	0	0	0	1	0	0	526	864	30	3	278	3	ALKBH1	14	78140430	Nonsense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	2392341	78140430	29209110	286	36689											
IFI27L2	83982	genome.wustl.edu	37	chr14	94594153	94594153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttattcctcatgtttctCtgacttgagtgggggttttg	4	19	10	8	0	2	2	1	2	1	0	4	2	3	2	2	2	0	2	2	2	1	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr14:94594153C>T	ENST00000238609.3	-	4	475	c.376G>A	c.(376-378)Gag>Aag	p.E126K	IFI27L2_ENST00000556727.1_Missense_Mutation_p.E101K	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN	interferon, alpha-inducible protein 27-like 2	126						integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						TCATGTTTCTCTGACTTGAGT	0.488																																																	0													219	206	210					14																	94594153		2203	4300	6503	SO:0001583	missense	0			AF208232	CCDS9920.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000119632			19753	protein-coding gene	gene with protein product		611319	"family with sequence similarity 14, member A"	FAM14A			Standard	NM_032036		Approved	TLH29	uc001ycq.3	Q9H2X8		ENST00000238609.3:c.376G>A	14.37:g.94594153C>T	ENSP00000238609:p.Glu126Lys		Q8TBD7|Q9NYL0	Missense_Mutation	SNP	pfam_IFI6/IFI27	p.E126K	ENST00000238609.3	37	c.376	CCDS9920.1	14	.	.	.	.	.	.	.	.	.	.	C	18.97	3.734912	0.69189	.	.	ENSG00000119632	ENST00000238609;ENST00000556727	T;T	0.37411	1.2;1.21	4.1	4.1	0.47936	.	.	.	.	.	T	0.32585	0.0834	L	0.29908	0.895	0.22666	N	0.99888	P	0.40970	0.734	B	0.42798	0.398	T	0.20706	-1.0267	9	0.87932	D	0	.	12.5672	0.56316	0.0:1.0:0.0:0.0	.	126	Q9H2X8	I27L2_HUMAN	K	126;101	ENSP00000238609:E126K;ENSP00000451717:E101K	ENSP00000238609:E126K	E	-	1	0	IFI27L2	93663906	0.077000	0.21312	0.266000	0.24541	0.028000	0.11728	-0.456000	0.06754	2.211000	0.71520	0.563000	0.77884	GAG	IFI27L2	-	NULL	ENSG00000119632		0.488	IFI27L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI27L2	HGNC	protein_coding	OTTHUMT00000412935.1	-	0	115	0	C	NM_032036		94594153	-1	tier1	-	no_errors	ENST00000238609	ensembl	human	known	74_37	missense	26.23	90	32	SNP	0.726	T	T	94594153	C	T	94594153	3	4	144	1	0	0	0	0	1	0	0	0	7541	922	32	3	20	3	IFI27L2	14	94594153	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	16453723	94594153	12755387	287	36690											
OCA2	4948	genome.wustl.edu	37	chr15	28234767	28234767	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	catgccaaacagcagggccaGcgtctcaaaatcaatccact	14	6	7	14	1	2	0	2	0	1	0	4	0	3	0	3	1	4	1	3	1	4	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:28234767G>T	ENST00000354638.3	-	11	1317	c.1162C>A	c.(1162-1164)Ctg>Atg	p.L388M	OCA2_ENST00000353809.5_Missense_Mutation_p.L364M|OCA2_ENST00000382996.2_Missense_Mutation_p.L388M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	388					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGCAGGGCCAGCGTCTCAAAA	0.582									Oculocutaneous Albinism																																								0													117	97	104					15																	28234767		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1162C>A	15.37:g.28234767G>T	ENSP00000346659:p.Leu388Met		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.L388M	ENST00000354638.3	37	c.1162	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596827	0.66332	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.92911	-3.13;-3.13;-3.13	4.99	3.07	0.35406	Divalent ion symporter (1);	0.000000	0.64402	D	0.000001	D	0.93838	0.8029	L	0.60904	1.88	0.43569	D	0.995897	D;D	0.89917	0.999;1.0	D;D	0.80764	0.989;0.994	D	0.92366	0.5901	10	0.54805	T	0.06	-14.1099	9.2798	0.37722	0.2521:0.0:0.7479:0.0	.	364;388	Q04671-2;Q04671	.;P_HUMAN	M	388;364;388	ENSP00000346659:L388M;ENSP00000261276:L364M;ENSP00000372457:L388M	ENSP00000261276:L364M	L	-	1	2	OCA2	25908362	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	3.223000	0.51231	0.642000	0.30620	0.655000	0.94253	CTG	OCA2	-	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.582	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	-	0	60	0	G	NM_000275		28234767	-1	tier1	-	no_errors	ENST00000354638	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.983	T	T	28234767	G	T	28234767	3	4	144	1	0	0	0	0	1	0	0	0	10854	962	34	3	1410	3	OCA2	15	28234767	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09		28234767	74296625	288	36691											
HERC2	8924	genome.wustl.edu	37	chr15	28431882	28431882	+	Missense_Mutation	SNP	T	T	G	0	1	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	tgcactgctttatagcaattTcaatatacctgtgatactag	12	15	6	8	0	1	1	1	1	0	0	1	1	1	1	1	0	5	3	1	0	8	8			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:28431882T>G	ENST00000261609.7	-	56	8774	c.8666A>C	c.(8665-8667)gAa>gCa	p.E2889A		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)		TATAGCAATTTCAATATACCT	0.433																																																	0													64	58	60					15																	28431882		2203	4300	6503	SO:0001583	missense	0			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.8666A>C	15.37:g.28431882T>G	ENSP00000261609:p.Glu2889Ala			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.E2889A	ENST00000261609.7	37	c.8666	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497275	0.85069	.	.	ENSG00000128731	ENST00000261609	T	0.65732	-0.17	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	0.80265	0.4591	M	0.83774	2.66	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.83861	0.0268	10	0.87932	D	0	.	15.0231	0.71647	0.0:0.0:0.0:1.0	.	2889	O95714	HERC2_HUMAN	A	2889	ENSP00000261609:E2889A	ENSP00000261609:E2889A	E	-	2	0	HERC2	26105477	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.000000	0.58554	0.528000	0.53228	GAA	HERC2	-	superfamily_Galactose-bd-like	ENSG00000128731		0.433	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	50	0	T	NM_004667		28431882	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	40.00	21	14	SNP	1.000	G	G	28431882	T	G	28431882	3	3	144	1	0	0	0	0	1	0	0	0	7085	1783	62	4	5990	4	HERC2	15	28431882	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	197115	28431882	74099510	289	36692											
ZNF770	54989	genome.wustl.edu	37	chr15	35275397	35275397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaatactacatttaaaaGgcagactatgagttagttga	17	11	8	5	0	0	3	0	2	0	1	0	4	0	3	0	1	2	3	0	1	7	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:35275397G>T	ENST00000356321.4	-	3	583	c.239C>A	c.(238-240)cCt>cAt	p.P80H		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)		ACATTTAAAAGGCAGACTATG	0.353																																																	0													85	85	85					15																	35275397		2201	4298	6499	SO:0001583	missense	0			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.239C>A	15.37:g.35275397G>T	ENSP00000348673:p.Pro80His		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P80H	ENST00000356321.4	37	c.239	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261152	0.59431	.	.	ENSG00000198146	ENST00000356321	T	0.21361	2.01	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000002	T	0.47358	0.1441	M	0.72624	2.21	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.49437	-0.8940	10	0.87932	D	0	-9.9616	17.1786	0.86848	0.0:0.0:1.0:0.0	.	80	Q6IQ21	ZN770_HUMAN	H	80	ENSP00000348673:P80H	ENSP00000348673:P80H	P	-	2	0	ZNF770	33062689	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.849000	0.62882	2.515000	0.84797	0.655000	0.94253	CCT	ZNF770	-	NULL	ENSG00000198146		0.353	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	75	0	G	NM_014106		35275397	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	35275397	G	T	35275397	3	4	144	1	0	0	0	0	1	0	0	0	18191	1000	35	3	1840	3	ZNF770	15	35275397	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	6843515	35275397	67255995	290	36693											
SPINT1	6692	genome.wustl.edu	37	chr15	41148489	41148489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagagaaggatgtgtttgGcctgaggcgggaaatcccca	10	8	15	8	1	0	2	0	1	0	1	1	5	1	4	3	4	1	2	3	4	2	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:41148489G>A	ENST00000344051.4	+	10	1586	c.1352G>A	c.(1351-1353)gGc>gAc	p.G451D	SPINT1_ENST00000431806.1_Missense_Mutation_p.G435D|SPINT1_ENST00000562057.1_Missense_Mutation_p.G435D			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	451					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GATGTGTTTGGCCTGAGGCGG	0.547																																																	0													154	127	136					15																	41148489		2203	4300	6503	SO:0001583	missense	0				CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1352G>A	15.37:g.41148489G>A	ENSP00000342098:p.Gly451Asp		Q7Z7D2	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G451D	ENST00000344051.4	37	c.1352	CCDS10067.1	15	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382965	0.61845	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95622	-3.74;-3.76	5.38	4.47	0.54385	.	0.439592	0.28908	N	0.013753	D	0.97056	0.9038	M	0.75447	2.3	0.41356	D	0.987398	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.91635	0.999;0.828;0.986	D	0.96753	0.9555	10	0.46703	T	0.11	-9.9339	11.8004	0.52124	0.0838:0.0:0.9162:0.0	.	435;435;451	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	D	451;418;435	ENSP00000342098:G451D;ENSP00000409935:G435D	ENSP00000342098:G451D	G	+	2	0	SPINT1	38935781	0.998000	0.40836	0.919000	0.36401	0.733000	0.41908	2.889000	0.48601	1.412000	0.46977	0.561000	0.74099	GGC	SPINT1	-	NULL	ENSG00000166145		0.547	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPINT1	HGNC	protein_coding	OTTHUMT00000252359.2		0	36	0	G	NM_003710		41148489	1			no_errors	ENST00000344051	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.972	A	A	41148489	G	A	41148489	3	1	144	1	0	0	0	0	1	0	0	0	15115	1203	42	3	1386	3	SPINT1	15	41148489	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	5873092	41148489	61382903	291	36694											
TYRO3	7301	genome.wustl.edu	37	chr15	41853368	41853368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagctgacagtgtctcaGgggcagccggtgaagctcaa	10	7	15	9	1	2	3	2	3	1	0	3	3	2	3	1	3	3	3	1	3	3	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:41853368G>T	ENST00000263798.3	+	2	392	c.168G>T	c.(166-168)caG>caT	p.Q56H	TYRO3_ENST00000559066.1_Missense_Mutation_p.Q11H	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	56	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGTGTCTCAGGGGCAGCCGG	0.577																																																	0													68	69	69					15																	41853368		2203	4300	6503	SO:0001583	missense	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.168G>T	15.37:g.41853368G>T	ENSP00000263798:p.Gln56His		O14953|Q86VR3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q56H	ENST00000263798.3	37	c.168	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779084	0.70107	.	.	ENSG00000092445	ENST00000263798	D	0.83837	-1.77	4.78	2.74	0.32292	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39909	N	0.001232	D	0.89632	0.6771	M	0.79258	2.445	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90118	0.4197	10	0.66056	D	0.02	-17.5847	11.722	0.51688	0.1687:0.0:0.8313:0.0	.	56;117	Q06418;Q59FM9	TYRO3_HUMAN;.	H	56	ENSP00000263798:Q56H	ENSP00000263798:Q56H	Q	+	3	2	TYRO3	39640660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.146000	0.58072	1.241000	0.43820	0.549000	0.68633	CAG	TYRO3	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000092445		0.577	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2	-	0	69	0	G			41853368	1	tier1	-	no_errors	ENST00000263798	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	41853368	G	T	41853368	3	4	144	1	0	0	0	0	1	0	0	0	16863	991	35	3	174	3	TYRO3	15	41853368	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	704879	41853368	60678024	292	36695											
MGA	23269	genome.wustl.edu	37	chr15	41988910	41988910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagaaagaatactcgacGattcaaaggattcagttgga	16	8	10	7	2	2	2	2	0	0	2	3	6	2	4	0	2	1	2	0	2	4	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:41988910G>T	ENST00000570161.1	+	2	1702	c.1702G>T	c.(1702-1704)Gat>Tat	p.D568Y	MGA_ENST00000545763.1_Missense_Mutation_p.D568Y|MGA_ENST00000219905.7_Missense_Mutation_p.D568Y|MGA_ENST00000389936.4_Missense_Mutation_p.D568Y|MGA_ENST00000566586.1_Missense_Mutation_p.D568Y			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATACTCGACGATTCAAAGGA	0.413																																																	0													58	52	54					15																	41988910		1875	4112	5987	SO:0001583	missense	0			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.1702G>T	15.37:g.41988910G>T	ENSP00000457035:p.Asp568Tyr		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.D568Y	ENST00000570161.1	37	c.1702	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	4.672	0.124964	0.08931	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83837	-1.77;-1.77;-1.76	5.44	0.681	0.17986	.	2.269950	0.01184	N	0.007170	T	0.75547	0.3864	N	0.14661	0.345	0.09310	N	1	P;P	0.39940	0.696;0.64	B;B	0.42245	0.381;0.15	T	0.67612	-0.5626	10	0.72032	D	0.01	.	9.106	0.36698	0.7031:0.0:0.2969:0.0	.	568;568	F5H7K2;E7ENI0	.;.	Y	568	ENSP00000219905:D568Y;ENSP00000374586:D568Y;ENSP00000442467:D568Y	ENSP00000219905:D568Y	D	+	1	0	MGA	39776202	0.178000	0.23122	0.445000	0.26908	0.010000	0.07245	1.313000	0.33585	0.388000	0.25054	-0.487000	0.04747	GAT	MGA	-	NULL	ENSG00000174197		0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	59	0	G	NM_001164273.1		41988910	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	5.06	74	4	SNP	0.001	T	T	41988910	G	T	41988910	3	4	144	1	0	0	0	0	1	0	0	0	9578	1058	37	2	1708	2	MGA	15	41988910	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	135542	41988910	60542482	293	36696											
TUBGCP4	27229	genome.wustl.edu	37	chr15	43678001	43678001	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgactagcgcctgattgagGaagagaacatgctggcacca	12	8	12	9	1	0	4	0	3	0	1	0	6	0	5	2	2	3	2	2	2	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:43678001G>T	ENST00000260383.7	+	8	990	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	TUBGCP4_ENST00000564079.1_Nonsense_Mutation_p.E246*|TUBGCP4_ENST00000399460.3_Nonsense_Mutation_p.E110*			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	246					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CCTGATTGAGGAAGAGAACAT	0.438																																																	0													117	107	110					15																	43678001		1937	4157	6094	SO:0001587	stop_gained	0			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.736G>T	15.37:g.43678001G>T	ENSP00000260383:p.Glu246*		B3KNK6|Q969X3|Q9NVF0	Nonsense_Mutation	SNP	pfam_TUBGCP	p.E246*	ENST00000260383.7	37	c.736		15	.	.	.	.	.	.	.	.	.	.	G	37	6.454026	0.97581	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	.	.	.	5.74	4.83	0.62350	.	0.043243	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-19.4138	14.1301	0.65247	0.0718:0.0:0.9282:0.0	.	.	.	.	X	246;110	.	ENSP00000260383:E246X	E	+	1	0	TUBGCP4	41465293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	1.576000	0.49790	0.561000	0.74099	GAA	TUBGCP4	-	pfam_TUBGCP	ENSG00000137822		0.438	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	-	0	71	0	G	NM_014444		43678001	1	tier1	-	no_errors	ENST00000260383	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	1.000	T	T	43678001	G	T	43678001	4	4	144	1	0	0	0	0	0	1	0	0	16817	1175	41	3	766	3	TUBGCP4	15	43678001	Nonsense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1689091	43678001	58853391	294	36697											
SEMA6D	80031	genome.wustl.edu	37	chr15	48063590	48063590	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaatagcccaaccaagCgagtggatgtccccaccact	13	5	8	15	1	0	1	0	0	0	1	1	3	1	2	6	1	3	0	6	1	4	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:48063590C>T	ENST00000316364.5	+	19	3269	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*	SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.R901*|SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.R925*|SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.R882*|SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.R882*|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.R869*|SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.R888*|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.R944*|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.R882*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	944					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCCAACCAAGCGAGTGGATGT	0.512																																																	0													109	111	110					15																	48063590		2198	4297	6495	SO:0001587	stop_gained	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2830C>T	15.37:g.48063590C>T	ENSP00000324857:p.Arg944*		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Nonsense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.R944*	ENST00000316364.5	37	c.2830	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	C	41	9.108550	0.99068	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	.	.	.	5.8	-0.0948	0.13643	.	0.236027	0.40728	N	0.001038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0584	0.86541	0.6624:0.3376:0.0:0.0	.	.	.	.	X	882;944;944;925;901;888;882;869	.	ENSP00000324857:R944X	R	+	1	2	SEMA6D	45850882	0.999000	0.42202	0.993000	0.49108	0.991000	0.79684	0.686000	0.25392	-0.282000	0.09128	0.563000	0.77884	CGA	SEMA6D	-	NULL	ENSG00000137872		0.512	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	-	0	27	0	C	NM_024966		48063590	1	tier1	-	no_errors	ENST00000316364	ensembl	human	known	74_37	nonsense	40.00	9	6	SNP	1.000	T	T	48063590	C	T	48063590	4	4	144	1	0	0	0	0	0	1	0	0	14087	760	27	1	2943	1	SEMA6D	15	48063590	Nonsense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	4385589	48063590	54467802	295	36698											
CYP19A1	1588	genome.wustl.edu	37	chr15	51507369	51507369	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagacatggtgtcaggagCtgcgatcagcatttccaata	12	9	11	9	1	2	1	2	0	0	1	3	4	3	2	1	2	3	2	1	2	2	2	rs370257485		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:51507369C>A	ENST00000396402.1	-	8	1072	c.919G>T	c.(919-921)Gct>Tct	p.A307S	CYP19A1_ENST00000396404.4_Missense_Mutation_p.A307S|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A307S|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A307S|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	307					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|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)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|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)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GTGTCAGGAGCTGCGATCAGC	0.398																																					Melanoma(142;1016 1807 39614 48966 51721)												0													131	124	127					15																	51507369		2196	4293	6489	SO:0001583	missense	0			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.919G>T	15.37:g.51507369C>A	ENSP00000379683:p.Ala307Ser		Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A307S	ENST00000396402.1	37	c.919	CCDS10139.1	15	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024426	0.93518	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404;ENST00000420301;ENST00000439712	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.83889	0.5352	M	0.79926	2.475	0.80722	D	1	D	0.63046	0.992	D	0.77557	0.99	D	0.84472	0.0600	10	0.72032	D	0.01	-18.3898	20.3539	0.98825	0.0:1.0:0.0:0.0	.	307	P11511	CP19A_HUMAN	S	307	ENSP00000379683:A307S;ENSP00000260433:A307S;ENSP00000379685:A307S;ENSP00000390614:A307S	ENSP00000260433:A307S	A	-	1	0	CYP19A1	49294661	1.000000	0.71417	0.504000	0.27639	0.752000	0.42762	7.480000	0.81109	2.826000	0.97356	0.655000	0.94253	GCT	CYP19A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	ENSG00000137869		0.398	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP19A1	HGNC	protein_coding	OTTHUMT00000254669.1		0	35	0	C			51507369	-1			no_errors	ENST00000260433	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	A	A	51507369	C	A	51507369	3	1	144	1	0	0	0	0	1	0	0	0	4157	797	28	3	604	3	CYP19A1	15	51507369	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	3443779	51507369	51024023	296	36699											
PYGO1	26108	genome.wustl.edu	37	chr15	55838889	55838889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaattagatgccaaatcggGgttagaaacttggctagcat	15	10	10	6	1	0	2	0	0	0	2	1	2	0	2	1	3	3	3	1	3	7	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:55838889G>T	ENST00000302000.6	-	3	686	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	PYGO1_ENST00000563719.1_Missense_Mutation_p.P198T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	198	Asn-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GCCAAATCGGGGTTAGAAACT	0.353																																																	0													69	73	72					15																	55838889		2193	4292	6485	SO:0001583	missense	0			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.592C>A	15.37:g.55838889G>T	ENSP00000302327:p.Pro198Thr		A7Y2D6	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P198T	ENST00000302000.6	37	c.592	CCDS10155.1	15	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807646	0.31961	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.60040	0.22	4.78	4.78	0.61160	.	0.086761	0.49916	D	0.000124	T	0.64011	0.2560	L	0.27053	0.805	0.42544	D	0.993086	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.65166	-0.6234	10	0.42905	T	0.14	-11.907	15.3579	0.74443	0.0:0.0:1.0:0.0	.	198;198	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	T	198	ENSP00000302327:P198T	ENSP00000302327:P198T	P	-	1	0	PYGO1	53626181	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.968000	0.49224	2.374000	0.81015	0.585000	0.79938	CCC	PYGO1	-	NULL	ENSG00000171016		0.353	PYGO1-001	KNOWN	basic|CCDS	protein_coding	PYGO1	HGNC	protein_coding	OTTHUMT00000254977.2	-	0	51	0	G	NM_015617		55838889	-1	tier1	-	no_errors	ENST00000302000	ensembl	human	known	74_37	missense	36.76	43	25	SNP	1.000	T	T	55838889	G	T	55838889	3	4	144	1	0	0	0	0	1	0	0	0	12908	1232	43	3	671	3	PYGO1	15	55838889	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	4331520	55838889	46692503	297	36700											
GCNT3	9245	genome.wustl.edu	37	chr15	59911753	59911753	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctatgggactgaactttGagacacactatgagagcgtt	12	11	10	8	1	1	3	0	3	1	2	1	6	1	4	0	1	2	1	0	1	3	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:59911753G>T	ENST00000396065.1	+	3	1764	c.1316G>T	c.(1315-1317)tGa>tTa	p.*439L	GCNT3_ENST00000560585.1_Nonstop_Mutation_p.*439L	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	0					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						ACTGAACTTTGAGACACACTA	0.478																																																	0													135	139	138					15																	59911753		2190	4290	6480	SO:0001578	stop_lost	0			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.1316G>T	15.37:g.59911753G>T	ENSP00000379377:p.*439Leuext*4			Nonstop_Mutation	SNP	pfam_Glyco_trans_14	p.*439L	ENST00000396065.1	37	c.1316	CCDS10172.1	15	.	.	.	.	.	.	.	.	.	.	G	3.540	-0.093817	0.07053	.	.	ENSG00000140297	ENST00000396065	.	.	.	5.22	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7391	0.34547	0.075:0.0:0.7734:0.1515	.	.	.	.	L	439	.	.	X	+	2	2	GCNT3	57699045	1.000000	0.71417	0.998000	0.56505	0.099000	0.18886	2.621000	0.46418	1.175000	0.42826	0.655000	0.94253	TGA	GCNT3	-	NULL	ENSG00000140297		0.478	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	HGNC	protein_coding	OTTHUMT00000256068.1	-	0	48	0	G	NM_004751		59911753	1	tier1	-	no_errors	ENST00000396065	ensembl	human	known	74_37	nonstop	5.19	72	4	SNP	1.000	T	T	59911753	G	T	59911753	4	4	144	1	0	0	0	0	0	0	0	0	6327	1285	45	3	1318	3	GCNT3	15	59911753	Nonstop_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	4072864	59911753	42619639	298	36701											
CYP11A1	1583	genome.wustl.edu	37	chr15	74636231	74636231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttgagcatggggacgctgGtgtggaacatctggtagatg	8	10	18	5	1	1	2	0	1	1	1	1	4	1	4	0	6	2	4	0	6	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:74636231G>T	ENST00000268053.6	-	4	882	c.728C>A	c.(727-729)aCc>aAc	p.T243N	CYP11A1_ENST00000358632.4_Missense_Mutation_p.T85N|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Missense_Mutation_p.T85N	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	243					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)	GGGGACGCTGGTGTGGAACAT	0.542																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													165	152	156					15																	74636231		2197	4296	6493	SO:0001583	missense	0			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.728C>A	15.37:g.74636231G>T	ENSP00000268053:p.Thr243Asn		A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.T243N	ENST00000268053.6	37	c.728	CCDS32291.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.010288|4.010288	0.75046|0.75046	.|.	.|.	ENSG00000140459|ENSG00000140459	ENST00000452422|ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	.|T;T;T	.|0.68479	.|-0.33;-0.33;-0.33	4.33|4.33	3.38|3.38	0.38709|0.38709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78123|0.78123	0.4234|0.4234	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.993;0.998	T|T	0.78066|0.78066	-0.2349|-0.2349	6|10	0.02654|0.49607	T|T	1|0.09	-20.8241|-20.8241	13.6072|13.6072	0.62054|0.62054	0.0:0.1572:0.8428:0.0|0.0:0.1572:0.8428:0.0	.|.	.|213;243	.|B4DTE5;P05108	.|.;CP11A_HUMAN	T|N	9|243;85;85;155	.|ENSP00000268053:T243N;ENSP00000351455:T85N;ENSP00000405488:T85N	ENSP00000391041:P9T|ENSP00000268053:T243N	P|T	-|-	1|2	0|0	CYP11A1|CYP11A1	72423284|72423284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.850000|0.850000	0.48378|0.48378	7.161000|7.161000	0.77505|0.77505	0.791000|0.791000	0.33826|0.33826	0.537000|0.537000	0.68136|0.68136	CCA|ACC	CYP11A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000140459		0.542	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11A1	HGNC	protein_coding	OTTHUMT00000319737.1	-	0	71	0	G			74636231	-1	tier1	-	no_errors	ENST00000268053	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	74636231	G	T	74636231	3	4	144	1	0	0	0	0	1	0	0	0	4153	1261	44	3	861	3	CYP11A1	15	74636231	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	14724478	74636231	27895161	299	36702											
ALPK3	57538	genome.wustl.edu	37	chr15	85383828	85383828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccagaccctgagtgtcCgggcgcctggggagagtccc	6	5	15	15	2	0	3	0	1	0	2	2	5	2	3	6	3	0	0	6	3	0	0	rs558339788		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr15:85383828C>T	ENST00000258888.5	+	5	2091	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	642					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)			CCTGAGTGTCCGGGCGCCTGG	0.647																																																	0													24	27	26					15																	85383828		2201	4299	6500	SO:0001583	missense	0			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.1924C>T	15.37:g.85383828C>T	ENSP00000258888:p.Arg642Trp		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.R642W	ENST00000258888.5	37	c.1924	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303336	0.40795	.	.	ENSG00000136383	ENST00000258888	T	0.62788	0.0	4.01	0.283	0.15696	.	7739.210000	0.00166	N	0.000000	T	0.50069	0.1594	L	0.29908	0.895	0.09310	N	1	P	0.48834	0.916	B	0.36666	0.23	T	0.53464	-0.8435	10	0.72032	D	0.01	-5.0309	10.0199	0.42037	0.4274:0.5726:0.0:0.0	.	642	Q96L96	ALPK3_HUMAN	W	642	ENSP00000258888:R642W	ENSP00000258888:R642W	R	+	1	2	ALPK3	83184832	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.356000	0.20181	0.028000	0.15324	-0.457000	0.05445	CGG	ALPK3	-	NULL	ENSG00000136383		0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0	136	0	C	NM_020778		85383828	1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	22.73	85	25	SNP	0.000	T	T	85383828	C	T	85383828	3	4	144	1	0	0	0	0	1	0	0	0	546	643	23	1	1942	1	ALPK3	15	85383828	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	10747597	85383828	17147564	300	36703											
IFT140	9742	genome.wustl.edu	37	chr16	1574888	1574888	+	Missense_Mutation	SNP	A	A	C	1	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	ccatctcgccctggctctccAggtactgcgcccaccaccgc	5	7	8	21	3	2	0	0	0	2	0	4	0	2	0	6	2	2	2	6	2	1	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:1574888A>C	ENST00000426508.2	-	23	3257	c.2894T>G	c.(2893-2895)cTg>cGg	p.L965R	IFT140_ENST00000361339.5_Missense_Mutation_p.L159R	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	965					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)				CTGGCTCTCCAGGTACTGCGC	0.697																																																	0													35	44	41					16																	1574888		2199	4300	6499	SO:0001583	missense	0			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.2894T>G	16.37:g.1574888A>C	ENSP00000406012:p.Leu965Arg		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L965R	ENST00000426508.2	37	c.2894	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716988	0.89205	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.79141	-1.24;-1.24	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000004	D	0.87541	0.6203	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.70716	0.934;0.97	D	0.88252	0.2917	10	0.51188	T	0.08	.	15.66	0.77178	1.0:0.0:0.0:0.0	.	965;652	Q96RY7;B4DR58	IF140_HUMAN;.	R	965;159;965	ENSP00000354895:L159R;ENSP00000406012:L965R	ENSP00000354895:L159R	L	-	2	0	IFT140	1514889	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.262000	0.95591	2.108000	0.64289	0.533000	0.62120	CTG	IFT140	-	NULL	ENSG00000187535		0.697	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	-	0	197	0	A	NM_014714		1574888	-1	tier1	-	no_errors	ENST00000426508	ensembl	human	known	74_37	missense	11.22	87	11	SNP	1.000	C	C	1574888	A	C	1574888	3	2	144	1	0	0	0	0	1	0	0	0	7583	188	7	4	1530	4	IFT140	16	1574888	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09		1574888	88779865	301	36704											
CCNF	899	genome.wustl.edu	37	chr16	2505474	2505474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtccagccaggaggaGacgctgctgggcagcttcct	7	7	15	12	1	0	1	0	0	0	1	2	4	2	2	3	3	4	5	3	3	0	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:2505474G>T	ENST00000397066.4	+	16	1882	c.1794G>T	c.(1792-1794)gaG>gaT	p.E598D	RP11-715J22.3_ENST00000561653.1_RNA|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	598	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GCCAGGAGGAGACGCTGCTGG	0.637																																																	0													47	40	42					16																	2505474		2197	4299	6496	SO:0001583	missense	0			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1794G>T	16.37:g.2505474G>T	ENSP00000380256:p.Glu598Asp		B2R8H3|Q96EG9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom	p.E598D	ENST00000397066.4	37	c.1794	CCDS10467.1	16	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123341	0.77436	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.30448	1.53	5.52	1.97	0.26223	.	0.045776	0.85682	N	0.000000	T	0.43344	0.1243	L	0.59436	1.845	0.54753	D	0.999989	D	0.76494	0.999	D	0.65987	0.94	T	0.25082	-1.0142	10	0.52906	T	0.07	-26.934	7.2139	0.25949	0.2131:0.1446:0.6423:0.0	.	598	P41002	CCNF_HUMAN	D	598;513	ENSP00000380256:E598D	ENSP00000293968:E513D	E	+	3	2	CCNF	2445475	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	1.952000	0.40343	0.686000	0.31488	0.561000	0.74099	GAG	CCNF	-	NULL	ENSG00000162063		0.637	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	-	0	133	0	G	NM_001761		2505474	1	tier1	-	no_errors	ENST00000397066	ensembl	human	known	74_37	missense	7.14	65	5	SNP	0.996	T	T	2505474	G	T	2505474	3	4	144	1	0	0	0	0	1	0	0	0	2929	933	33	3	1856	3	CCNF	16	2505474	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	930586	2505474	87849279	302	36705											
GRIN2A	2903	genome.wustl.edu	37	chr16	9857432	9857432	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaacaggctgccgtaaaaAtttccctccagaagccgttc	12	9	7	13	2	0	1	0	0	0	1	3	1	2	1	4	1	3	3	4	1	6	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:9857432A>G	ENST00000396573.2	-	14	4278	c.3969T>C	c.(3967-3969)aaT>aaC	p.N1323N	GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Silent_p.N1323N|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.N1323N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1323					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)	TGCCGTAAAAATTTCCCTCCA	0.522																																																	0													88	92	90					16																	9857432		2197	4300	6497	SO:0001819	synonymous_variant	0				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.3969T>C	16.37:g.9857432A>G			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.N1323	ENST00000396573.2	37	c.3969	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_NMDAR2_C	ENSG00000183454		0.522	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	-	0	59	0	A			9857432	-1	tier1	-	no_errors	ENST00000330684	ensembl	human	known	74_37	silent	59.51	83	122	SNP	0.004	G	G	9857432	A	G	9857432	2	3	144	1	0	0	0	0	0	0	0	1	6806	98	4	4		4	GRIN2A	16	9857432	Silent	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	7351958	9857432	80497321	303	36706											
ACSM5	54988	genome.wustl.edu	37	chr16	20429577	20429577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	gtggtggctggtcagtgtggCttgcatgcggacaggtcagt	5	11	18	7	1	2	0	2	0	0	0	2	1	2	1	0	6	2	3	0	6	0	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:20429577C>G	ENST00000331849.4	+	3	548	c.401C>G	c.(400-402)gCt>gGt	p.A134G	ACSM5_ENST00000575584.1_Missense_Mutation_p.A134G	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	134					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						GTCAGTGTGGCTTGCATGCGG	0.592																																																	0													51	43	46					16																	20429577		2203	4300	6503	SO:0001583	missense	0				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.401C>G	16.37:g.20429577C>G	ENSP00000327916:p.Ala134Gly		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A134G	ENST00000331849.4	37	c.401	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847424	0.51164	.	.	ENSG00000183549	ENST00000331849	T	0.63255	-0.03	4.56	4.56	0.56223	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000011	T	0.52338	0.1728	N	0.25957	0.775	0.54753	D	0.999983	P	0.36733	0.567	B	0.40825	0.341	T	0.47032	-0.9148	10	0.14656	T	0.56	-16.3832	17.2067	0.86920	0.0:1.0:0.0:0.0	.	134	Q6NUN0	ACSM5_HUMAN	G	134	ENSP00000327916:A134G	ENSP00000327916:A134G	A	+	2	0	ACSM5	20337078	0.999000	0.42202	1.000000	0.80357	0.943000	0.58893	4.609000	0.61148	2.369000	0.80426	0.650000	0.86243	GCT	ACSM5	-	pfam_AMP-dep_Synth/Lig	ENSG00000183549		0.592	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	-	0	52	0	C	NM_017888		20429577	1	tier1	-	no_errors	ENST00000331849	ensembl	human	known	74_37	missense	12.50	77	11	SNP	1.000	G	G	20429577	C	G	20429577	3	3	144	1	0	0	0	0	1	0	0	0	187	797	28	5	407	5	ACSM5	16	20429577	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	10572145	20429577	69925176	304	36707											
DNAH3	55567	genome.wustl.edu	37	chr16	21098317	21098317	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggtcttgatcagtttataCgttgtcctccacatattccc	9	15	6	11	1	2	1	1	1	1	0	5	1	5	1	3	1	1	2	3	1	4	7	rs376345259		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:21098317C>A	ENST00000261383.3	-	19	2729	c.2730G>T	c.(2728-2730)acG>acT	p.T910T	DNAH3_ENST00000415178.1_Silent_p.T910T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	910	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAGTTTATACGTTGTCCTCC	0.463																																																	0													242	217	225					16																	21098317		2201	4300	6501	SO:0001819	synonymous_variant	0			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.2730G>T	16.37:g.21098317C>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.T910	ENST00000261383.3	37	c.2730	CCDS10594.1	16																																																																																			DNAH3	-	pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase	ENSG00000158486		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	43	0	C	NM_017539		21098317	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	silent	39.58	58	38	SNP	0.806	A	A	21098317	C	A	21098317	2	1	144	1	0	0	0	0	0	0	0	1	4617	523	19	2		2	DNAH3	16	21098317	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	668740	21098317	69256436	305	36708											
IL4R	3566	genome.wustl.edu	37	chr16	27374546	27374546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaatgtgggtttggggctAgcagtggggaagaggggtat	10	9	20	2	0	0	2	0	0	0	2	0	3	0	3	0	7	1	4	0	7	4	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:27374546A>G	ENST00000395762.2	+	11	2132	c.1873A>G	c.(1873-1875)Agc>Ggc	p.S625G	IL4R_ENST00000380922.3_Missense_Mutation_p.S610G|IL4R_ENST00000543915.2_Missense_Mutation_p.S625G|IL4R_ENST00000170630.2_Missense_Mutation_p.S625G	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	625	Required for IL4-induced gene expression.				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						GTTTGGGGCTAGCAGTGGGGA	0.602																																																	0													53	52	53					16																	27374546		2197	4300	6497	SO:0001583	missense	0			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.1873A>G	16.37:g.27374546A>G	ENSP00000379111:p.Ser625Gly		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S625G	ENST00000395762.2	37	c.1873	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	A	6.984	0.551694	0.13374	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	4.98	0.648	0.17801	.	1.748270	0.03138	N	0.166146	T	0.08714	0.0216	N	0.20401	0.57	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.10450	0.005;0.003;0.003	T	0.35895	-0.9770	10	0.42905	T	0.14	-13.6551	7.3058	0.26447	0.3829:0.0:0.6171:0.0	.	610;625;625	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	G	625;625;610;625	ENSP00000379111:S625G;ENSP00000441667:S625G;ENSP00000370309:S610G;ENSP00000170630:S625G	ENSP00000170630:S625G	S	+	1	0	IL4R	27282047	0.001000	0.12720	0.500000	0.27589	0.205000	0.24178	-0.219000	0.09228	0.145000	0.18977	0.459000	0.35465	AGC	IL4R	-	NULL	ENSG00000077238		0.602	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	-	0	87	0	A			27374546	1	tier1	-	no_errors	ENST00000170630	ensembl	human	known	74_37	missense	6.93	214	16	SNP	0.067	G	G	27374546	A	G	27374546	3	3	144	1	0	0	0	0	1	0	0	0	7725	420	15	4	1925	4	IL4R	16	27374546	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	6276229	27374546	62980207	306	36709											
ZNF48	197407	genome.wustl.edu	37	chr16	30409330	30409330	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccccccgaccagtggtgccCcgacggcagccatctcgggc	5	4	12	20	4	1	0	0	0	1	0	2	2	1	0	7	3	2	1	7	3	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:30409330C>A	ENST00000320159.2	+	2	1135	c.759C>A	c.(757-759)ccC>ccA	p.P253P	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CAGTGGTGCCCCGACGGCAGC	0.637																																																	0													34	41	39					16																	30409330		2197	4298	6495	SO:0001819	synonymous_variant	0			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.759C>A	16.37:g.30409330C>A			Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P253	ENST00000320159.2	37	c.759	CCDS10679.1	16																																																																																			ZNF48	-	NULL	ENSG00000180035		0.637	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	-	0	86	0	C	NM_152652		30409330	1	tier1	-	no_errors	ENST00000320159	ensembl	human	known	74_37	silent	8.72	136	13	SNP	0.637	A	A	30409330	C	A	30409330	2	1	144	1	0	0	0	0	0	0	0	1	17982	610	22	3		3	ZNF48	16	30409330	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	3034784	30409330	59945423	307	36710											
ITGAM	3684	genome.wustl.edu	37	chr16	31309066	31309066	+	Splice_Site	SNP	A	A	T	1	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	atactgtttgtgtttagcagAgggctcggtggcagtgtgat	7	14	15	5	1	0	2	0	1	0	1	1	2	0	2	0	3	2	5	0	3	2	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:31309066A>T	ENST00000287497.8	+	14	1573	c.1498A>T	c.(1498-1500)Agg>Tgg	p.R500W	ITGAM_ENST00000544665.3_Missense_Mutation_p.R501W			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	500					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						TGTTTAGCAGAGGGCTCGGTG	0.657																																																	0													64	66	66					16																	31309066		2164	4274	6438	SO:0001630	splice_region_variant	0			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.1498-1A>T	16.37:g.31309066A>T			Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R501W	ENST00000287497.8	37	c.1501	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	A	8.373	0.835829	0.16820	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.26810	2.76;1.71	4.0	0.0916	0.14469	.	.	.	.	.	T	0.22205	0.0535	L	0.58101	1.795	0.09310	N	1	B;B	0.25351	0.124;0.124	B;B	0.24269	0.052;0.052	T	0.25082	-1.0142	9	0.49607	T	0.09	.	5.0971	0.14739	0.4896:0.4042:0.1062:0.0	.	500;500	Q4VAK1;P11215	.;ITAM_HUMAN	W	501;500	ENSP00000441691:R501W;ENSP00000287497:R500W	ENSP00000287497:R500W	R	+	1	2	ITGAM	31216567	0.433000	0.25562	0.172000	0.22920	0.427000	0.31564	0.229000	0.17833	-0.111000	0.12001	0.533000	0.62120	AGG	ITGAM	-	smart_Int_alpha_beta-p	ENSG00000169896		0.657	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	-	0	110	0	A	NM_000632	Missense_Mutation	31309066	1	tier1	-	no_errors	ENST00000544665	ensembl	human	known	74_37	missense	7.75	369	31	SNP	0.091	T	T	31309066	A	T	31309066	5	4	144	1	0	0	0	0	0	0	1	0	7914	318	11	5	1555	5	ITGAM	16	31309066	Splice_Site	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	899736	31309066	59045687	308	36711											
N4BP1	9683	genome.wustl.edu	37	chr16	48595560	48595560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatatctggacttaaattttCagaatcagcagaagaatcag	16	12	7	6	0	4	3	3	0	1	3	4	4	4	4	0	1	1	1	0	1	7	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:48595560C>T	ENST00000262384.3	-	2	1230	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	332					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CTTAAATTTTCAGAATCAGCA	0.363																																																	0													66	66	66					16																	48595560		1808	4068	5876	SO:0001583	missense	0			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.994G>A	16.37:g.48595560C>T	ENSP00000262384:p.Glu332Lys		A7MD49|Q2YDX1	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.E332K	ENST00000262384.3	37	c.994	CCDS45479.1	16	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350731	0.41599	.	.	ENSG00000102921	ENST00000262384	T	0.49139	0.79	5.97	4.0	0.46444	.	0.656314	0.16165	N	0.226565	T	0.34308	0.0893	L	0.27053	0.805	0.26429	N	0.975976	B	0.26876	0.162	B	0.17979	0.02	T	0.24261	-1.0165	10	0.48119	T	0.1	-8.3763	12.3663	0.55230	0.0:0.8604:0.0:0.1396	.	332	O75113	N4BP1_HUMAN	K	332	ENSP00000262384:E332K	ENSP00000262384:E332K	E	-	1	0	N4BP1	47153061	0.683000	0.27633	0.023000	0.16930	0.744000	0.42396	1.231000	0.32624	1.508000	0.48769	0.655000	0.94253	GAA	N4BP1	-	NULL	ENSG00000102921		0.363	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP1	HGNC	protein_coding	OTTHUMT00000429920.1	-	0	21	0	C	NM_014664		48595560	-1	tier1	-	no_errors	ENST00000262384	ensembl	human	known	74_37	missense	36.36	21	12	SNP	0.718	T	T	48595560	C	T	48595560	3	4	144	1	0	0	0	0	1	0	0	0	10147	835	29	3	1720	3	N4BP1	16	48595560	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	17286494	48595560	41759193	309	36712											
C16orf78	123970	genome.wustl.edu	37	chr16	49407984	49407984	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagcggaggcaggggaagaAgaaacaagctcccgaggtgg	13	2	19	7	2	0	2	0	0	0	2	1	6	1	5	1	7	3	2	1	7	4	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:49407984A>C	ENST00000299191.3	+	1	251	c.134A>C	c.(133-135)aAg>aCg	p.K45T		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	45						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CAGGGGAAGAAGAAACAAGCT	0.512																																																	0													74	71	72					16																	49407984		2199	4300	6499	SO:0001583	missense	0			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.134A>C	16.37:g.49407984A>C	ENSP00000299191:p.Lys45Thr			Missense_Mutation	SNP	NULL	p.K45T	ENST00000299191.3	37	c.134	CCDS10738.1	16	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401200	0.42613	.	.	ENSG00000166152	ENST00000299191	T	0.55760	0.5	3.66	1.33	0.21861	.	0.266624	0.26939	N	0.021728	T	0.51295	0.1666	L	0.34521	1.04	0.28767	N	0.900597	D	0.67145	0.996	D	0.64877	0.93	T	0.42137	-0.9469	9	.	.	.	-41.2732	4.8343	0.13456	0.7033:0.0:0.2967:0.0	.	45	Q8WTQ4	CP078_HUMAN	T	45	ENSP00000299191:K45T	.	K	+	2	0	C16orf78	47965485	0.927000	0.31430	0.863000	0.33907	0.718000	0.41266	0.442000	0.21628	0.259000	0.21709	0.459000	0.35465	AAG	C16orf78	-	NULL	ENSG00000166152		0.512	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf78	HGNC	protein_coding	OTTHUMT00000256846.1	-	0	77	0	A	NM_144602		49407984	1	tier1	-	no_errors	ENST00000299191	ensembl	human	known	74_37	missense	20.69	92	24	SNP	0.885	C	C	49407984	A	C	49407984	3	2	144	1	0	0	0	0	1	0	0	0	1840	72	3	4	136	4	C16orf78	16	49407984	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	812424	49407984	40946769	310	36713											
CDH8	1006	genome.wustl.edu	37	chr16	61851392	61851392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	aataaaaataccttataggaCtggaagtgatatcagggtca	17	10	9	5	0	2	1	2	1	0	0	2	3	2	3	1	3	1	0	1	3	9	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:61851392C>A	ENST00000577390.1	-	7	2222	c.1268G>T	c.(1267-1269)aGt>aTt	p.S423I	CDH8_ENST00000584337.1_Missense_Mutation_p.S423I|CDH8_ENST00000299345.6_Missense_Mutation_p.S423I|CDH8_ENST00000577730.1_Missense_Mutation_p.S423I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	423	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)		CCTTATAGGACTGGAAGTGAT	0.428																																																	0													62	60	60					16																	61851392		2203	4300	6503	SO:0001583	missense	0			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.1268G>T	16.37:g.61851392C>A	ENSP00000462701:p.Ser423Ile		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S423I	ENST00000577390.1	37	c.1268	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005081	0.74932	.	.	ENSG00000150394	ENST00000299345	T	0.01838	4.61	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.034571	0.85682	D	0.000000	T	0.20820	0.0501	M	0.92923	3.36	0.80722	D	1	D;P	0.76494	0.999;0.797	D;P	0.77557	0.99;0.702	T	0.01071	-1.1461	10	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	239;423	Q3LID3;P55286	.;CADH8_HUMAN	I	423	ENSP00000299345:S423I	ENSP00000299345:S423I	S	-	2	0	CDH8	60408893	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.584000	0.60971	2.894000	0.99253	0.655000	0.94253	AGT	CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150394		0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	-	0	57	0	C	NM_001796		61851392	-1	tier1	-	no_errors	ENST00000577390	ensembl	human	known	74_37	missense	40.62	38	26	SNP	1.000	A	A	61851392	C	A	61851392	3	1	144	1	0	0	0	0	1	0	0	0	3123	565	20	3	1155	3	CDH8	16	61851392	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	12443408	61851392	28503361	311	36714											
VPS4A	27183	genome.wustl.edu	37	chr16	69350218	69350218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagctgaaggattatttacGaagcaaagagaaacacggca	18	6	11	6	2	0	2	0	1	0	1	0	6	0	3	0	2	4	3	0	2	7	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:69350218G>A	ENST00000254950.11	+	3	380	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.R99Q	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				GATTATTTACGAAGCAAAGAG	0.567																																																	0													83	98	93					16																	69350218		2074	4200	6274	SO:0001583	missense	0			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.224G>A	16.37:g.69350218G>A	ENSP00000254950:p.Arg75Gln			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.R75Q	ENST00000254950.11	37	c.224	CCDS45517.1	16	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793187	0.50102	.	.	ENSG00000132612	ENST00000254950	T	0.21191	2.02	5.71	4.76	0.60689	MIT (1);	0.060082	0.64402	D	0.000002	T	0.09905	0.0243	N	0.05306	-0.075	0.39966	D	0.974723	B	0.24092	0.097	B	0.17433	0.018	T	0.18999	-1.0319	10	0.30078	T	0.28	-6.6692	9.7851	0.40670	0.1587:0.0:0.8413:0.0	.	75	Q9UN37	VPS4A_HUMAN	Q	75	ENSP00000254950:R75Q	ENSP00000254950:R75Q	R	+	2	0	VPS4A	67907719	1.000000	0.71417	0.802000	0.32245	0.991000	0.79684	4.450000	0.60041	1.413000	0.46997	0.655000	0.94253	CGA	VPS4A	-	smart_MIT	ENSG00000132612		0.567	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3	-	0	119	0	G	NM_013245		69350218	1	tier1	-	no_errors	ENST00000254950	ensembl	human	known	74_37	missense	27.81	109	42	SNP	0.998	A	A	69350218	G	A	69350218	3	1	144	1	0	0	0	0	1	0	0	0	17261	1058	37	1	234	1	VPS4A	16	69350218	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	7498826	69350218	21004535	312	36715											
NFAT5	10725	genome.wustl.edu	37	chr16	69727099	69727099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccacagtcagacttctaCaacctcctctgaacaaatgc	12	10	5	14	0	3	2	1	1	2	1	5	2	5	2	3	0	4	0	3	0	4	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:69727099C>T	ENST00000354436.2	+	12	3635	c.3317C>T	c.(3316-3318)aCa>aTa	p.T1106I	NFAT5_ENST00000349945.1_Missense_Mutation_p.T1030I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T1030I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T1030I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T1123I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T1124I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1106					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						CAGACTTCTACAACCTCCTCT	0.453																																																	0													101	102	102					16																	69727099		2198	4300	6498	SO:0001583	missense	0			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.3317C>T	16.37:g.69727099C>T	ENSP00000346420:p.Thr1106Ile		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.T1124I	ENST00000354436.2	37	c.3371	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246173	0.39697	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.52295	0.69;0.67;0.67;0.67	5.83	5.83	0.93111	.	0.130161	0.52532	D	0.000066	T	0.43055	0.1230	L	0.43152	1.355	0.48901	D	0.999727	P;B;B	0.35433	0.501;0.18;0.281	B;B;B	0.29942	0.109;0.076;0.076	T	0.30446	-0.9978	10	0.41790	T	0.15	-3.1267	20.1162	0.97934	0.0:1.0:0.0:0.0	.	1123;1106;1124	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	1124;1123;1030;1106;1030	ENSP00000396538:T1124I;ENSP00000338806:T1030I;ENSP00000346420:T1106I;ENSP00000377343:T1030I	ENSP00000338806:T1030I	T	+	2	0	NFAT5	68284600	0.997000	0.39634	0.995000	0.50966	0.987000	0.75469	5.359000	0.66074	2.756000	0.94617	0.655000	0.94253	ACA	NFAT5	-	NULL	ENSG00000102908		0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	-	0	47	0	C	NM_138714		69727099	1	tier1	-	no_errors	ENST00000432919	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.989	T	T	69727099	C	T	69727099	3	4	144	1	0	0	0	0	1	0	0	0	10399	478	17	3	3421	3	NFAT5	16	69727099	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	376881	69727099	20627654	313	36716											
MAF	4094	genome.wustl.edu	37	chr16	79632734	79632734	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcgagccgttttctcggaAgccgctgctcaccaacttct	6	11	9	15	4	3	0	1	0	2	0	5	2	3	1	3	1	4	4	3	1	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:79632734A>G	ENST00000393350.1	-	1	1877	c.1066T>C	c.(1066-1068)Ttc>Ctc	p.F356L	MAF_ENST00000326043.4_Missense_Mutation_p.F356L|MAF_ENST00000569649.1_Missense_Mutation_p.F356L	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	356	Represses ARE-mediated transcription.				cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		TTTTCTCGGAAGCCGCTGCTC	0.582			T	IGH@	MM																																			Dom	yes		16	16q22-q23	4094	v-maf musculoaponeurotic fibrosarcoma oncogene homolog		L	0													62	62	62					16																	79632734		2198	4300	6498	SO:0001583	missense	0				CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.1066T>C	16.37:g.79632734A>G	ENSP00000377019:p.Phe356Leu		Q66I47|Q9UP93	Missense_Mutation	SNP	pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.F356L	ENST00000393350.1	37	c.1066	CCDS42198.1	16	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142764	0.77888	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.97480	-4.4;-4.36	4.27	4.27	0.50696	.	0.270692	0.42548	D	0.000692	D	0.96620	0.8897	M	0.74881	2.28	0.39901	D	0.973904	B;B	0.33826	0.069;0.427	B;B	0.42916	0.076;0.402	D	0.95966	0.8966	10	0.22109	T	0.4	-12.4494	13.6754	0.62451	1.0:0.0:0.0:0.0	.	356;356	O75444;O75444-1	MAF_HUMAN;.	L	356	ENSP00000327048:F356L;ENSP00000377019:F356L	ENSP00000327048:F356L	F	-	1	0	MAF	78190235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.200000	0.77838	1.693000	0.51124	0.448000	0.29417	TTC	MAF	-	NULL	ENSG00000178573		0.582	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAF	HGNC	protein_coding	OTTHUMT00000317037.1	-	0	132	0	A			79632734	-1	tier1	-	no_errors	ENST00000326043	ensembl	human	known	74_37	missense	30.70	79	35	SNP	1.000	G	G	79632734	A	G	79632734	3	3	144	1	0	0	0	0	1	0	0	0	9191	72	3	4	157	4	MAF	16	79632734	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	9905635	79632734	10722019	314	36717											
C16orf74	404550	genome.wustl.edu	37	chr16	85743833	85743833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggggcgtgatgatgatgtCgggcacgtccaggtgcttgt	5	10	19	7	3	0	3	0	3	0	0	2	3	1	3	1	5	1	2	1	5	0	1	rs377716191		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:85743833C>T	ENST00000284245.4	-	3	292	c.109G>A	c.(109-111)Gac>Aac	p.D37N	C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602719.1_Missense_Mutation_p.D37N|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602583.1_Missense_Mutation_p.D25N|C16orf74_ENST00000602766.1_5'UTR	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	37																	ATGATGATGTCGGGCACGTCC	0.662																																																	0													17	22	20					16																	85743833		2133	4236	6369	SO:0001583	missense	0			BC009078	CCDS45540.1	16q24.1	2014-05-28			ENSG00000154102	ENSG00000154102			23362	protein-coding gene	gene with protein product							Standard	NM_206967		Approved	MGC17624	uc002fjc.4	Q96GX8	OTTHUMG00000183875	ENST00000284245.4:c.109G>A	16.37:g.85743833C>T	ENSP00000284245:p.Asp37Asn			Missense_Mutation	SNP	NULL	p.D37N	ENST00000284245.4	37	c.109	CCDS45540.1	16	.	.	.	.	.	.	.	.	.	.	C	5.934	0.356442	0.11239	.	.	ENSG00000154102	ENST00000284245	.	.	.	4.85	-0.84	0.10755	.	0.448478	0.20948	N	0.082807	T	0.12220	0.0297	.	.	.	0.24242	N	0.995352	B	0.12630	0.006	B	0.06405	0.002	T	0.34725	-0.9817	8	0.02654	T	1	-27.196	8.0544	0.30596	0.0:0.3031:0.0:0.6969	.	37	Q96GX8	CP074_HUMAN	N	37	.	ENSP00000284245:D37N	D	-	1	0	C16orf74	84301334	0.980000	0.34600	0.996000	0.52242	0.986000	0.74619	-0.165000	0.09968	-0.129000	0.11620	0.561000	0.74099	GAC	C16orf74	-	NULL	ENSG00000154102		0.662	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf74	HGNC	protein_coding	OTTHUMT00000467253.1	-	0	27	0	C	NM_206967		85743833	-1	tier1	-	no_errors	ENST00000284245	ensembl	human	known	74_37	missense	65.85	14	27	SNP	0.994	T	T	85743833	C	T	85743833	3	4	144	1	0	0	0	0	1	0	0	0	1838	884	31	1	129	1	C16orf74	16	85743833	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	6111099	85743833	4610920	315	36718											
BANP	54971	genome.wustl.edu	37	chr16	88037956	88037956	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atcggcagaacgccattgtaGccaagatggaagaccccttg	12	7	11	11	2	0	3	0	0	0	3	1	4	0	4	4	2	2	2	4	2	4	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr16:88037956G>T	ENST00000393207.1	+	5	615	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	BANP_ENST00000286122.7_Missense_Mutation_p.A132S|BANP_ENST00000479780.2_Intron|BANP_ENST00000393208.2_Intron|BANP_ENST00000355163.5_Intron|BANP_ENST00000538234.1_Missense_Mutation_p.A140S|BANP_ENST00000355022.4_Intron	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	132					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)		CGCCATTGTAGCCAAGATGGA	0.488																																																	0																																										SO:0001583	missense	0			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.394G>T	16.37:g.88037956G>T	ENSP00000376902:p.Ala132Ser		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	pfam_BEN_domain	p.A132S	ENST00000393207.1	37	c.394	CCDS54054.1	16	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979173	0.74360	.	.	ENSG00000172530	ENST00000286122;ENST00000538234;ENST00000393207	T;T;T	0.39997	1.05;1.05;1.05	5.93	5.93	0.95920	.	0.217217	0.39985	N	0.001205	T	0.24509	0.0594	N	0.14661	0.345	0.39395	D	0.966497	B;B	0.34372	0.243;0.451	B;B	0.31869	0.097;0.137	T	0.14090	-1.0485	10	0.15499	T	0.54	.	12.6066	0.56527	0.075:0.0:0.925:0.0	.	140;132	B4DE54;Q8N9N5	.;BANP_HUMAN	S	132;140;132	ENSP00000286122:A132S;ENSP00000444352:A140S;ENSP00000376902:A132S	ENSP00000286122:A132S	A	+	1	0	BANP	86595457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.012000	0.64017	2.797000	0.96272	0.655000	0.94253	GCC	BANP	-	NULL	ENSG00000172530		0.488	BANP-002	KNOWN	basic|CCDS	protein_coding	BANP	HGNC	protein_coding	OTTHUMT00000269166.1	-	0	76	0	G	NM_017869		88037956	1	tier1	-	no_errors	ENST00000286122	ensembl	human	known	74_37	missense	5.43	87	5	SNP	1.000	T	T	88037956	G	T	88037956	3	4	144	1	0	0	0	0	1	0	0	0	1311	971	34	3	450	3	BANP	16	88037956	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2294123	88037956	2316797	316	36719											
P2RX1	5023	genome.wustl.edu	37	chr17	3807317	3807317	+	Splice_Site	SNP	G	G	T	0	0	1	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	acacacttgcccgtgcggatGcctggagccagagggaaacc	10	5	13	13	2	0	1	0	0	0	1	0	4	0	4	4	3	5	0	4	3	1	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr17:3807317G>T	ENST00000225538.3	-	5	703	c.429C>A	c.(427-429)ggC>ggA	p.G143G		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	143					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CCGTGCGGATGCCTGGAGCCA	0.617																																																	0													78	61	67					17																	3807317		2203	4300	6503	SO:0001630	splice_region_variant	0			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.428-1C>A	17.37:g.3807317G>T			Q9UK84	Silent	SNP	pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.G143	ENST00000225538.3	37	c.429	CCDS11040.1	17																																																																																			P2RX1	-	pfam_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor	ENSG00000108405		0.617	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX1	HGNC	protein_coding	OTTHUMT00000438391.1	-	0	57	0	G	NM_002558	Silent	3807317	-1	tier1	-	no_errors	ENST00000225538	ensembl	human	known	74_37	silent	10.87	41	5	SNP	0.995	T	T	3807317	G	T	3807317	5	4	144	1	0	0	0	0	0	0	1	0	11378	1333	46	3	802	3	P2RX1	17	3807317	Splice_Site	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09		3807317	77387893	317	36720											
WDR16	146845	genome.wustl.edu	37	chr17	9489127	9489127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaatgccatcctgaccaGgagcatatgatttatcctct	11	12	6	12	0	2	2	1	2	1	0	4	3	4	3	4	1	2	1	4	1	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr17:9489127G>T	ENST00000576499.1	+	2	122	c.108G>T	c.(106-108)caG>caT	p.Q36H	WDR16_ENST00000299764.5_Missense_Mutation_p.Q46H|WDR16_ENST00000396219.3_Intron|WDR16_ENST00000352665.5_Missense_Mutation_p.Q36H					WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCCTGACCAGGAGCATATGA	0.438																																																	0													185	171	175					17																	9489127		2203	4300	6503	SO:0001583	missense	0			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000576499.1:c.108G>T	17.37:g.9489127G>T	ENSP00000476293:p.Gln36His			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q46H	ENST00000576499.1	37	c.138		17	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967058	0.53507	.	.	ENSG00000166596	ENST00000352665;ENST00000299764	T;T	0.29655	1.56;4.95	5.86	4.89	0.63831	WD40 repeat-like-containing domain (1);	0.434279	0.25854	N	0.027870	T	0.34337	0.0894	L	0.46157	1.445	0.33993	D	0.64935	P;P	0.51240	0.943;0.844	P;B	0.46940	0.532;0.332	T	0.52147	-0.8614	10	0.49607	T	0.09	-23.1893	13.7952	0.63166	0.075:0.0:0.925:0.0	.	46;36	Q8N1V2-2;Q8N1V2	.;WDR16_HUMAN	H	36;46	ENSP00000339449:Q36H;ENSP00000299764:Q46H	ENSP00000299764:Q46H	Q	+	3	2	WDR16	9429852	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.364000	0.34171	1.462000	0.47948	0.585000	0.79938	CAG	WDR16	-	superfamily_WD40_repeat_dom	ENSG00000166596		0.438	WDR16-009	PUTATIVE	basic|exp_conf	protein_coding	WDR16	HGNC	protein_coding	OTTHUMT00000439850.2	-	0	48	0	G	NM_145054		9489127	1	tier1	-	no_errors	ENST00000299764	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	9489127	G	T	9489127	3	4	144	1	0	0	0	0	1	0	0	0	17325	991	35	3	114	3	WDR16	17	9489127	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	5681810	9489127	71706083	318	36721											
NOS2	4843	genome.wustl.edu	37	chr17	26093544	26093544	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actttcccttacctggatgtCggactttgtagattctgccg	6	15	9	11	2	1	1	0	0	1	1	3	3	2	3	3	2	2	1	3	2	2	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr17:26093544C>T	ENST00000313735.6	-	19	2471	c.2238G>A	c.(2236-2238)ccG>ccA	p.P746P		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	746	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				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)	ACCTGGATGTCGGACTTTGTA	0.483																																																	0													298	260	273					17																	26093544		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2238G>A	17.37:g.26093544C>T			A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.P746	ENST00000313735.6	37	c.2238	CCDS11223.1	17																																																																																			NOS2	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk	ENSG00000007171		0.483	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	-	0	75	0	C	NM_000625		26093544	-1	tier1	-	no_errors	ENST00000313735	ensembl	human	known	74_37	silent	30.93	67	30	SNP	0.000	T	T	26093544	C	T	26093544	2	4	144	1	0	0	0	0	0	0	0	1	10582	871	31	1		1	NOS2	17	26093544	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	16604417	26093544	55101666	319	36722											
SARM1	113235	genome.wustl.edu	37	chr17	26723195	26723195	+	3'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggtcccacgaataccagGaggccaccattgagaagatc	12	6	12	11	1	0	2	0	1	0	2	2	5	1	3	4	4	1	0	4	4	3	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr17:26723195G>T	ENST00000440501.1	-	0	4952				SARM1_ENST00000457710.3_Nonsense_Mutation_p.E655*|SLC46A1_ENST00000321666.5_3'UTR|SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000379061.4_3'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1						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)	CGAATACCAGGAGGCCACCAT	0.607																																																	0													78	68	71					17																	26723195		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			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.*3477C>A	17.37:g.26723195G>T			Q1HE20|Q86T92|Q8TEG3|Q96FL0	Nonsense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.E655*	ENST00000440501.1	37	c.1963		17	.	.	.	.	.	.	.	.	.	.	G	41	9.150458	0.99082	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	4.84	4.84	0.62591	.	0.059111	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-27.3339	17.9677	0.89105	0.0:0.0:1.0:0.0	.	.	.	.	X	687;655	.	ENSP00000003834:E655X	E	+	1	0	SARM1	23747322	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.718000	0.74713	2.222000	0.72286	0.561000	0.74099	GAG	SARM1	-	smart_TIR_dom	ENSG00000004139		0.607	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SARM1	HGNC	protein_coding			0	49	0	G	NM_080669		26723195	1			no_errors	ENST00000457710	ensembl	human	novel	74_37	nonsense	5.26	54	3	SNP	1.000	T	T	26723195	G	T	26723195	1	4	144	0	1	0	0	0	0	0	0	0	13887	1175	41	3		3	SARM1	17	26723195	3'UTR	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	629651	26723195	54472015	320	36723											
ADAP2	55803	genome.wustl.edu	37	chr17	29271984	29271984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgccaccttccagacagaGaagatagggcacccccatgg	13	5	10	13	0	0	3	0	0	0	3	1	4	1	3	5	2	1	1	5	2	3	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr17:29271984G>A	ENST00000330889.3	+	6	905	c.570G>A	c.(568-570)gaG>gaA	p.E190E	ADAP2_ENST00000580525.1_Silent_p.E196E	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	190	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCCAGACAGAGAAGATAGGGC	0.502																																																	1	Unknown(1)	central_nervous_system(1)											98	92	94					17																	29271984		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16487	protein-coding gene	gene with protein product		608635	"centaurin, alpha 2"	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.570G>A	17.37:g.29271984G>A			Q8N4Q6|Q96SD5	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP	p.E190	ENST00000330889.3	37	c.570	CCDS11261.1	17																																																																																			ADAP2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000184060		0.502	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAP2	HGNC	protein_coding	OTTHUMT00000256346.1	-	0	25	0	G	NM_018404		29271984	1	tier1	-	no_errors	ENST00000330889	ensembl	human	known	74_37	silent	55.71	31	39	SNP	1.000	A	A	29271984	G	A	29271984	2	1	144	1	0	0	0	0	0	0	0	1	280	933	33	3		3	ADAP2	17	29271984	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2548789	29271984	51923226	321	36724											
RASL10B	91608	genome.wustl.edu	37	chr17	34062293	34062293	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgtacaacgagttcagCgaggtctgcgtccccaccac	8	10	9	14	3	3	0	1	0	2	0	4	2	4	0	3	1	4	2	3	1	2	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr17:34062293C>T	ENST00000268864.3	+	2	467	c.90C>T	c.(88-90)agC>agT	p.S30S		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	30	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACGAGTTCAGCGAGGTCTGCG	0.652																																																	0													96	75	82					17																	34062293		2203	4300	6503	SO:0001819	synonymous_variant	0			BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.90C>T	17.37:g.34062293C>T			B3KV31	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.S30	ENST00000268864.3	37	c.90	CCDS11297.1	17																																																																																			RASL10B	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	ENSG00000141150		0.652	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL10B	HGNC	protein_coding	OTTHUMT00000256498.2	-	0	76	0	C	NM_033315		34062293	1	tier1	-	no_errors	ENST00000268864	ensembl	human	known	74_37	silent	34.41	61	32	SNP	1.000	T	T	34062293	C	T	34062293	2	4	144	1	0	0	0	0	0	0	0	1	13125	767	27	1		1	RASL10B	17	34062293	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	4790309	34062293	47132917	322	36725											
ORMDL3	94103	genome.wustl.edu	37	chr17	38080379	38080379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagaccgatggccagcacGtaggagagccagatgccacg	12	3	15	11	3	0	3	0	0	0	3	0	6	0	3	4	3	3	2	4	3	1	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr17:38080379G>A	ENST00000394169.1	-	4	1572	c.78C>T	c.(76-78)taC>taT	p.Y26Y	ORMDL3_ENST00000304046.2_Silent_p.Y26Y|ORMDL3_ENST00000584220.1_Silent_p.Y26Y|ORMDL3_ENST00000579695.1_Silent_p.Y26Y|ORMDL3_ENST00000582052.1_5'Flank			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	26					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)			TGGCCAGCACGTAGGAGAGCC	0.592																																																	0													209	156	174					17																	38080379		2203	4300	6503	SO:0001819	synonymous_variant	0				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.78C>T	17.37:g.38080379G>A			B3KS83|Q6UY83	Silent	SNP	pfam_ORMDL,pirsf_ORMDL	p.Y26	ENST00000394169.1	37	c.78	CCDS11355.1	17																																																																																			ORMDL3	-	pfam_ORMDL,pirsf_ORMDL	ENSG00000172057		0.592	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ORMDL3	HGNC	protein_coding	OTTHUMT00000257003.1	-	0	64	0	G	NM_139280		38080379	-1	tier1	-	no_errors	ENST00000304046	ensembl	human	known	74_37	silent	31.65	54	25	SNP	0.997	A	A	38080379	G	A	38080379	2	1	144	1	0	0	0	0	0	0	0	1	11310	1140	40	1		1	ORMDL3	17	38080379	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	4018086	38080379	43114831	323	36726											
MPP2	4355	genome.wustl.edu	37	chr17	41981824	41981824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagttggtggcggcaaccGgcatggtgaaggaggcaagg	10	5	19	7	2	0	2	0	1	0	1	0	3	0	3	1	8	1	4	1	8	3	1	rs146765164	byFrequency	TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr17:41981824G>A	ENST00000461854.1	-	2	90	c.5C>T	c.(4-6)cCg>cTg	p.P2L	MPP2_ENST00000536246.1_5'Flank|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000523501.1_Intron|MPP2_ENST00000518766.1_Missense_Mutation_p.P47L|MPP2_ENST00000269095.4_Missense_Mutation_p.P2L|MPP2_ENST00000473246.1_5'Flank			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	2					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.P2L(1)		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)		GGCGGCAACCGGCATGGTGAA	0.557																																																	1	Substitution - Missense(1)	large_intestine(1)											114	97	102					17																	41981824		2203	4300	6503	SO:0001583	missense	0				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.5C>T	17.37:g.41981824G>A	ENSP00000428286:p.Pro2Leu		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.P2L	ENST00000461854.1	37	c.5		17	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062694	0.55432	.	.	ENSG00000108852	ENST00000269095;ENST00000461854;ENST00000518766;ENST00000520406;ENST00000523934;ENST00000520241;ENST00000521178;ENST00000522172;ENST00000518478	T;T;T;T;T;T;T	0.52057	3.09;2.67;3.05;0.72;0.72;0.68;0.71	4.9	4.9	0.64082	.	.	.	.	.	T	0.31979	0.0814	N	0.19112	0.55	0.80722	D	1	B	0.30211	0.273	B	0.14578	0.011	T	0.25082	-1.0142	9	0.87932	D	0	.	13.438	0.61094	0.0:0.0:1.0:0.0	.	47	E7EV80	.	L	2;2;47;2;2;2;2;2;2	ENSP00000269095:P2L;ENSP00000428286:P2L;ENSP00000428182:P47L;ENSP00000428354:P2L;ENSP00000430797:P2L;ENSP00000428938:P2L;ENSP00000430443:P2L	ENSP00000269095:P2L	P	-	2	0	MPP2	39337350	0.999000	0.42202	0.987000	0.45799	0.901000	0.52897	4.597000	0.61062	2.539000	0.85634	0.561000	0.74099	CCG	MPP2	-	NULL	ENSG00000108852		0.557	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	MPP2	HGNC	protein_coding	OTTHUMT00000258388.2	-	0	93	0	G	NM_005374		41981824	-1	tier1	-	no_errors	ENST00000461854	ensembl	human	known	74_37	missense	23.94	107	34	SNP	0.988	A	A	41981824	G	A	41981824	3	1	144	1	0	0	0	0	1	0	0	0	9772	1116	39	1	1701	1	MPP2	17	41981824	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3901445	41981824	39213386	324	36727											
FZD2	2535	genome.wustl.edu	37	chr17	42636566	42636566	+	Missense_Mutation	SNP	A	A	G	1	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	agcactgcaagagcctggccAtcccgtgcccggcgcactac	8	5	11	17	3	0	1	0	0	0	1	1	1	1	1	4	2	5	3	4	2	2	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr17:42636566A>G	ENST00000315323.3	+	1	1642	c.1510A>G	c.(1510-1512)Atc>Gtc	p.I504V		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	504					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GAGCCTGGCCATCCCGTGCCC	0.627																																																	0													45	41	42					17																	42636566		2203	4300	6503	SO:0001583	missense	0			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1510A>G	17.37:g.42636566A>G	ENSP00000323901:p.Ile504Val		Q0VG82	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.I504V	ENST00000315323.3	37	c.1510	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	a	2.451	-0.326393	0.05350	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.82711	-1.64	5.0	5.0	0.66597	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	N	0.16233	0.39	0.50171	D	0.999854	B	0.06786	0.001	B	0.15484	0.013	T	0.62872	-0.6762	10	0.05351	T	0.99	.	14.4343	0.67270	1.0:0.0:0.0:0.0	.	504	Q14332	FZD2_HUMAN	V	580;504	ENSP00000323901:I504V	ENSP00000323901:I504V	I	+	1	0	FZD2	39992092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.485000	0.45250	1.885000	0.54596	0.454000	0.30748	ATC	FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000180340		0.627	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	-	0	92	0	A	NM_001466		42636566	1	tier1	-	no_errors	ENST00000315323	ensembl	human	known	74_37	missense	9.20	79	8	SNP	1.000	G	G	42636566	A	G	42636566	3	3	144	1	0	0	0	0	1	0	0	0	6154	217	8	4	1512	4	FZD2	17	42636566	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	654742	42636566	38558644	325	36728											
PDK2	5164	genome.wustl.edu	37	chr17	48184157	48184157	+	Splice_Site	SNP	G	G	T	0	0	1	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	atcctcccttcctgcctgcaGccctcatctttgatggcagc	5	12	7	17	0	2	1	1	1	1	0	5	1	5	1	5	1	4	2	5	1	0	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr17:48184157G>T	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	0	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>T	17.37:g.48184157G>T			A8K3A7|B3KNW0|Q6P515|Q9BS05	Splice_Site	SNP	-	e5-1	ENST00000503176.1	37	c.518-1	CCDS11559.1	17	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201367	0.58234	.	.	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	.	PDK2	-	-	ENSG00000005882		0.582	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK2	HGNC	protein_coding	OTTHUMT00000366492.2		0	28	0	G	NM_002611	Intron	48184157	1			no_errors	ENST00000503176	ensembl	human	known	74_37	splice_site	9.52	38	4	SNP	1.000	T	T	48184157	G	T	48184157	5	4	144	1	0	0	0	0	0	0	1	0	11715	985	34	3	535	3	PDK2	17	48184157	Splice_Site	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	5547591	48184157	33011053	326	36729											
ABCA10	10349	genome.wustl.edu	37	chr17	67181658	67181658	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctggtaagaggcgtcttCgggatttgttccagagaaag	10	10	15	6	2	1	2	0	0	1	2	3	4	2	3	1	4	0	3	1	4	2	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr17:67181658C>T	ENST00000269081.4	-	21	3366	c.2457G>A	c.(2455-2457)ccG>ccA	p.P819P	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	819					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)					GAGGCGTCTTCGGGATTTGTT	0.373																																																	0													72	73	73					17																	67181658		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2457G>A	17.37:g.67181658C>T			C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P819	ENST00000269081.4	37	c.2457	CCDS11684.1	17																																																																																			ABCA10	-	NULL	ENSG00000154263		0.373	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	-	0	77	0	C	NM_080282		67181658	-1	tier1	-	no_errors	ENST00000269081	ensembl	human	known	74_37	silent	12.66	138	20	SNP	0.001	T	T	67181658	C	T	67181658	2	4	144	1	0	0	0	0	0	0	0	1	29	871	31	1		1	ABCA10	17	67181658	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	18997501	67181658	14013552	327	36730											
C17orf101	79701	genome.wustl.edu	37	chr17	80361875	80361875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcttccgtgctgtttatgcGggagaagaaggtgggcttgg	6	11	17	7	3	0	2	0	0	0	2	1	3	1	2	1	4	2	4	1	4	3	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr17:80361875G>A	ENST00000313056.5	-	7	788	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	RP13-20L14.4_ENST00000579188.1_RNA|OGFOD3_ENST00000329197.5_Missense_Mutation_p.R213C	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	213	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										CTGTTTATGCGGGAGAAGAAG	0.642																																																	0													108	81	90					17																	80361875		2203	4300	6503	SO:0001583	missense	0			BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.637C>T	17.37:g.80361875G>A	ENSP00000320116:p.Arg213Cys		C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	smart_Pro_4_hyd_alph	p.R213C	ENST00000313056.5	37	c.637	CCDS11811.1	17	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699230	0.68501	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.47177	1.46;0.85	5.25	5.25	0.73442	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78054	-0.2354	10	0.87932	D	0	-24.4987	13.3177	0.60417	0.0:0.0:0.8413:0.1586	.	213;213	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	C	213	ENSP00000320116:R213C;ENSP00000330075:R213C	ENSP00000320116:R213C	R	-	1	0	C17orf101	77955164	1.000000	0.71417	0.996000	0.52242	0.725000	0.41563	3.894000	0.56250	2.439000	0.82584	0.655000	0.94253	CGC	OGFOD3	-	smart_Pro_4_hyd_alph	ENSG00000181396		0.642	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD3	HGNC	protein_coding	OTTHUMT00000442895.1	-	0	65	0	G	NM_175902		80361875	-1	tier1	-	no_errors	ENST00000329197	ensembl	human	known	74_37	missense	24.24	50	16	SNP	0.992	A	A	80361875	G	A	80361875	3	1	144	1	0	0	0	0	1	0	0	0	1853	1116	39	1	511	1	C17orf101	17	80361875	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	13180217	80361875	833335	328	36731											
POTEC	388468	genome.wustl.edu	37	chr18	14534903	14534903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaagaaataaccataccttCcatatctatcaagtgcattt	17	12	3	9	0	2	1	1	0	1	1	3	1	3	1	3	0	3	1	3	0	8	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr18:14534903C>T	ENST00000358970.5	-	4	913	c.914G>A	c.(913-915)gGa>gAa	p.G305E	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	305										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ACCATACCTTCCATATCTATC	0.303																																																	0													9	15	13					18																	14534903		270	818	1088	SO:0001583	missense	0			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.914G>A	18.37:g.14534903C>T	ENSP00000351856:p.Gly305Glu			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G305E	ENST00000358970.5	37	c.914	CCDS45835.1	18	.	.	.	.	.	.	.	.	.	.	C	11.02	1.517129	0.27123	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.65732	-0.17	1.73	-0.873	0.10635	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.73218	0.3559	M	0.77616	2.38	0.09310	N	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.60296	-0.7291	9	0.72032	D	0.01	.	4.2175	0.10542	0.0:0.4244:0.0:0.5756	.	305	B2RU33	POTEC_HUMAN	E	305	ENSP00000351856:G305E	ENSP00000351856:G305E	G	-	2	0	POTEC	14524903	0.511000	0.26179	0.029000	0.17559	0.031000	0.12232	0.406000	0.21032	-0.207000	0.10187	0.194000	0.17425	GGA	POTEC	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000183206		0.303	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	-	0	259	0	C	XM_496269		14534903	-1	tier1	-	no_errors	ENST00000358970	ensembl	human	known	74_37	missense	15.15	196	35	SNP	0.193	T	T	14534903	C	T	14534903	3	4	144	1	0	0	0	0	1	0	0	0	12301	855	30	3	746	3	POTEC	18	14534903	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09		14534903	63542345	329	36732											
TMX3	54495	genome.wustl.edu	37	chr18	66348308	66348308	+	Silent	SNP	T	T	G	0	1	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	agcaagaaatattgctggttTgaagtattcagtacaactac	15	12	8	6	0	1	2	1	1	0	1	1	2	1	2	0	1	5	5	0	1	8	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr18:66348308T>G	ENST00000299608.2	-	14	1261	c.945A>C	c.(943-945)tcA>tcC	p.S315S		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	315					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						ATTGCTGGTTTGAAGTATTCA	0.308																																																	0													120	119	119					18																	66348308		2203	4300	6503	SO:0001819	synonymous_variant	0			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.945A>C	18.37:g.66348308T>G			B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Silent	SNP	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.S315	ENST00000299608.2	37	c.945	CCDS32840.1	18																																																																																			TMX3	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold	ENSG00000166479		0.308	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TMX3	HGNC	protein_coding	OTTHUMT00000420155.1	-	0	26	0	T	NM_019022		66348308	-1	tier1	-	no_errors	ENST00000299608	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.995	G	G	66348308	T	G	66348308	2	3	144	1	0	0	0	0	0	0	0	1	16315	1799	63	4		4	TMX3	18	66348308	Silent	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	51813405	66348308	11728940	330	36733											
TBXA2R	6915	genome.wustl.edu	37	chr19	3595872	3595872	+	Silent	SNP	C	C	G	0	0	0	1	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	tccttctccgtggtgcgggaCagctgcccggcggggctcat	3	9	15	14	4	2	0	1	0	1	0	4	1	3	1	3	5	3	2	3	5	0	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:3595872C>G	ENST00000375190.4	-	3	1239	c.846G>C	c.(844-846)ctG>ctC	p.L282L	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Missense_Mutation_p.V153L|TBXA2R_ENST00000411851.3_Silent_p.L282L	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	282					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)	TGGTGCGGGACAGCTGCCCGG	0.667																																																	0													17	20	19					19																	3595872		2171	4264	6435	SO:0001819	synonymous_variant	0				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.846G>C	19.37:g.3595872C>G			O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt	p.V153L	ENST00000375190.4	37	c.457	CCDS42467.1	19																																																																																			TBXA2R	-	NULL	ENSG00000006638		0.667	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBXA2R	HGNC	protein_coding	OTTHUMT00000453081.2	-	0	96	0	C			3595872	-1	tier1	-	no_errors	ENST00000589966	ensembl	human	putative	74_37	missense	7.00	93	7	SNP	0.964	G	G	3595872	C	G	3595872	2	3	144	1	0	0	0	0	0	0	0	1	15710	465	17	5		5	TBXA2R	19	3595872	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09		3595872	55533111	331	36734											
PNPLA6	10908	genome.wustl.edu	37	chr19	7620583	7620583	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtccattggctctttcatCggagcgttgtacgcggagga	7	11	13	10	5	2	0	1	0	1	0	4	3	3	3	1	4	2	3	1	4	1	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:7620583C>T	ENST00000221249.6	+	27	3344	c.2913C>T	c.(2911-2913)atC>atT	p.I971I	PNPLA6_ENST00000450331.3_Silent_p.I971I|PNPLA6_ENST00000600737.1_Silent_p.I1009I|PNPLA6_ENST00000414982.3_Silent_p.I1019I|PNPLA6_ENST00000545201.2_Silent_p.I944I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1010					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						GCTCTTTCATCGGAGCGTTGT	0.667																																																	0													37	39	39					19																	7620583		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2913C>T	19.37:g.7620583C>T			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.I1019	ENST00000221249.6	37	c.3057	CCDS32891.1	19																																																																																			PNPLA6	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000032444		0.667	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	-	0	71	0	C	NM_006702		7620583	1	tier1	-	no_errors	ENST00000414982	ensembl	human	known	74_37	silent	31.37	35	16	SNP	0.197	T	T	7620583	C	T	7620583	2	4	144	1	0	0	0	0	0	0	0	1	12208	874	31	1		1	PNPLA6	19	7620583	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	4024711	7620583	51508400	332	36735											
XAB2	56949	genome.wustl.edu	37	chr19	7685536	7685536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcaggcacatctcacgcGcgtgctcgtccgacagcacc	8	5	10	18	6	1	0	1	0	1	0	4	1	2	0	3	1	2	4	3	1	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:7685536G>T	ENST00000358368.4	-	15	2028	c.1991C>A	c.(1990-1992)gCg>gAg	p.A664E	XAB2_ENST00000534844.1_Missense_Mutation_p.A661E	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	664					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						CATCTCACGCGCGTGCTCGTC	0.662								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													33	34	34					19																	7685536		2203	4300	6503	SO:0001583	missense	0			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.1991C>A	19.37:g.7685536G>T	ENSP00000351137:p.Ala664Glu		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A664E	ENST00000358368.4	37	c.1991	CCDS32892.1	19	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006540	0.35415	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.40225	1.04;1.04	4.31	3.26	0.37387	Tetratricopeptide-like helical (1);	0.142130	0.46145	D	0.000312	T	0.54111	0.1838	M	0.88450	2.955	0.51767	D	0.999939	D	0.54047	0.964	P	0.47044	0.535	T	0.64635	-0.6361	10	0.87932	D	0	-25.3541	11.0621	0.47953	0.0929:0.0:0.9071:0.0	.	664	Q9HCS7	SYF1_HUMAN	E	664;661	ENSP00000351137:A664E;ENSP00000438225:A661E	ENSP00000351137:A664E	A	-	2	0	XAB2	7591536	0.832000	0.29368	0.839000	0.33178	0.046000	0.14306	3.857000	0.55972	1.018000	0.39521	0.460000	0.39030	GCG	XAB2	-	NULL	ENSG00000076924		0.662	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1		0	98	0	G	NM_020196		7685536	-1			no_errors	ENST00000358368	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.987	T	T	7685536	G	T	7685536	3	4	144	1	0	0	0	0	1	0	0	0	17467	1087	38	2	596	2	XAB2	19	7685536	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	64953	7685536	51443447	333	36736											
FBN3	84467	genome.wustl.edu	37	chr19	8152011	8152011	+	Missense_Mutation	SNP	A	A	G	1	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	gccgcatgcctgggggacagAcgcacgcgaaggtaccgatg	9	4	16	12	5	0	1	0	0	0	1	0	4	0	2	3	3	2	3	3	3	2	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:8152011A>G	ENST00000600128.1	-	54	7118	c.6704T>C	c.(6703-6705)gTc>gCc	p.V2235A	FBN3_ENST00000601739.1_Missense_Mutation_p.V2235A|FBN3_ENST00000270509.2_Missense_Mutation_p.V2235A			Q75N90	FBN3_HUMAN	fibrillin 3	2235	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGGGGACAGACGCACGCGAA	0.627																																																	0													84	75	78					19																	8152011		2203	4300	6503	SO:0001583	missense	0				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.6704T>C	19.37:g.8152011A>G	ENSP00000470498:p.Val2235Ala		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.V2235A	ENST00000600128.1	37	c.6704	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	A	13.51	2.260039	0.39995	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.92446	-3.04	3.71	3.71	0.42584	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.124305	0.52532	U	0.000074	D	0.85283	0.5661	N	0.05351	-0.065	0.41168	D	0.986146	P;B	0.38300	0.626;0.051	B;B	0.43508	0.422;0.01	D	0.86018	0.1505	10	0.46703	T	0.11	.	12.7178	0.57125	1.0:0.0:0.0:0.0	.	2235;341	Q75N90;Q6ZNB8	FBN3_HUMAN;.	A	2235;341	ENSP00000270509:V2235A	ENSP00000270509:V2235A	V	-	2	0	FBN3	8058011	1.000000	0.71417	0.748000	0.31131	0.076000	0.17211	6.868000	0.75516	1.462000	0.47948	0.334000	0.21626	GTC	FBN3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000142449		0.627	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0	42	0	A	NM_032447		8152011	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	G	G	8152011	A	G	8152011	3	3	144	1	0	0	0	0	1	0	0	0	5726	275	10	4	1769	4	FBN3	19	8152011	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	466475	8152011	50976972	334	36737											
MUC16	94025	genome.wustl.edu	37	chr19	9059054	9059054	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgatagaggtgaaaagagaAgtgacagggacaggagagga	18	4	17	2	0	0	6	0	3	0	3	0	10	0	8	0	4	0	0	0	4	4	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:9059054A>C	ENST00000397910.4	-	3	28595	c.28392T>G	c.(28390-28392)acT>acG	p.T9464T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9466	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						TGAAAAGAGAAGTGACAGGGA	0.483																																																	0													109	107	108					19																	9059054		2006	4187	6193	SO:0001819	synonymous_variant	0			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.28392T>G	19.37:g.9059054A>C			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T9464	ENST00000397910.4	37	c.28392	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	60	0	A	NM_024690		9059054	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	40.32	74	50	SNP	0.000	C	C	9059054	A	C	9059054	2	2	144	1	0	0	0	0	0	0	0	1	10011	59	3	4		4	MUC16	19	9059054	Silent	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	907043	9059054	50069929	335	36738											
ZNF177	7730	genome.wustl.edu	37	chr19	9491836	9491836	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttcagaactgtgtcagaActcactctggagagatgccc	10	9	9	13	0	4	3	3	0	1	3	4	5	4	4	2	1	3	0	2	1	2	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:9491836A>C	ENST00000589262.1	+	6	895	c.829A>C	c.(829-831)Act>Cct	p.T277P	ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602738.1_Missense_Mutation_p.T117P|ZNF177_ENST00000541595.2_Missense_Mutation_p.T117P|ZNF177_ENST00000434737.2_Missense_Mutation_p.T277P|ZNF177_ENST00000343499.4_Missense_Mutation_p.T117P|ZNF177_ENST00000446085.4_3'UTR	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	277					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTGTGTCAGAACTCACTCTGG	0.433																																																	0													86	79	81					19																	9491836		2203	4300	6503	SO:0001583	missense	0			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type", "-"	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.829A>C	19.37:g.9491836A>C	ENSP00000468531:p.Thr277Pro		B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T277P	ENST00000589262.1	37	c.829	CCDS54214.1	19	.	.	.	.	.	.	.	.	.	.	A	9.411	1.080504	0.20309	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.12984	5.23;5.23;2.63	2.82	1.79	0.24919	.	.	.	.	.	T	0.17066	0.0410	M	0.78344	2.41	0.25697	N	0.985626	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06481	-1.0824	8	0.48119	T	0.1	.	7.7665	0.28982	0.3912:0.6088:0.0:0.0	.	277;117	B4DY57;Q13360	.;ZN177_HUMAN	P	117;117;277	ENSP00000445323:T117P;ENSP00000341497:T117P;ENSP00000415070:T277P	ENSP00000341497:T117P	T	+	1	0	ZNF177	9352836	0.000000	0.05858	0.007000	0.13788	0.967000	0.64934	0.534000	0.23098	0.606000	0.29965	0.460000	0.39030	ACT	ZNF177	-	pfscan_Znf_C2H2	ENSG00000188629		0.433	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF177	HGNC	protein_coding	OTTHUMT00000449028.1	-	0	25	0	A	NM_003451		9491836	1	tier1	-	no_errors	ENST00000434737	ensembl	human	known	74_37	missense	50.00	25	25	SNP	0.118	C	C	9491836	A	C	9491836	3	2	144	1	0	0	0	0	1	0	0	0	17794	43	2	4	847	4	ZNF177	19	9491836	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	432782	9491836	49637147	336	36739											
RAVER1	112812	genome.wustl.edu	37	chr19	10428164	10428164	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcttcaggtaggagtccGcgtagtggccgccgaggccc	5	7	15	14	5	1	0	1	0	0	0	3	2	3	1	5	4	0	3	5	4	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:10428164G>A	ENST00000393708.3	-	0	0				CTD-2369P2.12_ENST00000586529.1_Missense_Mutation_p.A147V|FDX1L_ENST00000494368.1_5'Flank|RAVER1_ENST00000293677.6_Missense_Mutation_p.A746V|CTD-2369P2.10_ENST00000452032.2_5'Flank|FDX1L_ENST00000541276.1_5'Flank|FDX1L_ENST00000492239.1_5'Flank	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like						oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GTAGGAGTCCGCGTAGTGGCC	0.592																																																	0													53	59	57					19																	10428164		2076	4204	6280	SO:0001631	upstream_gene_variant	0			AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299		19.37:g.10428164G>A	Exception_encountered		Q8N8B8	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A746V	ENST00000393708.3	37	c.2237	CCDS32905.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.254818|5.254818	0.95336|0.95336	.|.	.|.	ENSG00000161847|ENSG00000161847	ENST00000293677|ENST00000331131	T|.	0.46451|.	0.87|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	3.435300|.	0.01124|.	N|.	0.005847|.	T|T	0.46718|0.46718	0.1407|0.1407	M|M	0.61703|0.61703	1.905|1.905	0.53688|0.53688	D|D	0.999973|0.999973	D|P	0.89917|0.51537	1.0|0.946	D|B	0.78314|0.33521	0.991|0.165	T|T	0.58967|0.58967	-0.7542|-0.7542	10|8	0.72032|0.59425	D|D	0.01|0.04	-1.2971|-1.2971	15.7941|15.7941	0.78394|0.78394	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	746|603	E9PAU2|Q8IY67	.|RAVR1_HUMAN	V|W	746|603	ENSP00000293677:A746V|.	ENSP00000293677:A746V|ENSP00000327543:R603W	A|R	-|-	2|1	0|2	RAVER1|RAVER1	10289164|10289164	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.973000|0.973000	0.67179|0.67179	8.067000|8.067000	0.89488|0.89488	2.323000|2.323000	0.78572|0.78572	0.561000|0.561000	0.74099|0.74099	GCG|CGG	RAVER1	-	NULL	ENSG00000161847		0.592	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000280567.2	-	0	123	0	G			10428164	-1	tier1	-	no_errors	ENST00000293677	ensembl	human	known	74_37	missense	39.84	73	49	SNP	1.000	A	A	10428164	G	A	10428164	1	1	144	0	1	0	0	0	0	0	0	0	13139	1087	38	1		1	RAVER1	19	10428164	5'Flank	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	936328	10428164	48700819	337	36740											
ZNF627	199692	genome.wustl.edu	37	chr19	11727779	11727779	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgagttatcatcgctcttTtccagtacgtgaaaggactc	9	14	8	10	2	2	2	1	2	1	0	5	3	3	3	1	1	1	3	1	1	3	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:11727779T>C	ENST00000361113.5	+	4	669	c.461T>C	c.(460-462)tTt>tCt	p.F154S	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CATCGCTCTTTTCCAGTACGT	0.413																																					Melanoma(112;173 1614 10731 17751 23322)												0													84	81	82					19																	11727779		2104	4257	6361	SO:0001583	missense	0			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.461T>C	19.37:g.11727779T>C	ENSP00000354414:p.Phe154Ser		O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F154S	ENST00000361113.5	37	c.461	CCDS42502.1	19	.	.	.	.	.	.	.	.	.	.	t	16.46	3.128423	0.56721	.	.	ENSG00000198551	ENST00000361113	T	0.28666	1.6	1.36	1.36	0.22044	.	.	.	.	.	T	0.50463	0.1617	M	0.81239	2.535	0.09310	N	1	D	0.63046	0.992	D	0.66497	0.944	T	0.26430	-1.0103	9	0.72032	D	0.01	.	6.8018	0.23756	0.0:0.0:0.0:1.0	.	154	Q7L945	ZN627_HUMAN	S	154	ENSP00000354414:F154S	ENSP00000354414:F154S	F	+	2	0	ZNF627	11588779	0.020000	0.18652	0.001000	0.08648	0.839000	0.47603	3.301000	0.51842	0.901000	0.36495	0.260000	0.18958	TTT	ZNF627	-	NULL	ENSG00000198551		0.413	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF627	HGNC	protein_coding	OTTHUMT00000458875.1	-	0	110	0	T	NM_145295		11727779	1	tier1	-	no_errors	ENST00000361113	ensembl	human	known	74_37	missense	26.28	101	36	SNP	0.001	C	C	11727779	T	C	11727779	3	2	144	1	0	0	0	0	1	0	0	0	18099	1841	64	4	475	4	ZNF627	19	11727779	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	1299615	11727779	47401204	338	36741											
CYP4F22	126410	genome.wustl.edu	37	chr19	15658973	15658973	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcattaaggagagcctgcgCcagtacccacctgtcactct	9	9	9	14	1	2	1	1	0	1	1	2	2	2	1	4	1	4	2	4	1	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:15658973C>A	ENST00000269703.3	+	11	1390	c.1191C>A	c.(1189-1191)cgC>cgA	p.R397R	CYP4F22_ENST00000601005.2_Silent_p.R397R	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	397						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						AGAGCCTGCGCCAGTACCCAC	0.562																																																	0													170	152	158					19																	15658973		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1191C>A	19.37:g.15658973C>A			Q8N8H4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R397	ENST00000269703.3	37	c.1191	CCDS12331.1	19																																																																																			CYP4F22	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000171954		0.562	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	HGNC	protein_coding	OTTHUMT00000461338.2	-	0	43	0	C	NM_173483		15658973	1	tier1	-	no_errors	ENST00000269703	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.721	A	A	15658973	C	A	15658973	2	1	144	1	0	0	0	0	0	0	0	1	4198	726	26	3		3	CYP4F22	19	15658973	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	3931194	15658973	43470010	339	36742											
PIK3R2	5296	genome.wustl.edu	37	chr19	18271374	18271374	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaggccattgaaaggacagGtaagttccagcctggctgca	11	7	14	9	0	0	1	0	1	0	0	1	3	1	3	3	5	2	4	3	5	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:18271374G>T	ENST00000593731.1	+	3	975		c.e3+1		PIK3R2_ENST00000222254.8_Splice_Site			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)						blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GAAAGGACAGGTAAGTTCCAG	0.592																																																	0													80	65	70					19																	18271374		2203	4298	6501	SO:0001630	splice_region_variant	0				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.415+1G>T	19.37:g.18271374G>T			Q5EAT5|Q9UPH9	Splice_Site	SNP	-	e2+1	ENST00000593731.1	37	c.415+1	CCDS12371.1	19	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082245	0.36758	.	.	ENSG00000105647	ENST00000222254	.	.	.	4.45	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5554	0.56250	0.0:0.0:0.8334:0.1666	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3R2	18132374	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	7.038000	0.76537	2.203000	0.70933	0.561000	0.74099	.	PIK3R2	-	-	ENSG00000105647		0.592	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2		0	85	0	G	NM_005027	Intron	18271374	1			no_errors	ENST00000222254	ensembl	human	known	74_37	splice_site	5.45	52	3	SNP	1.000	T	T	18271374	G	T	18271374	5	4	144	1	0	0	0	0	0	0	1	0	11958	1275	44	3	422	3	PIK3R2	19	18271374	Splice_Site	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2612401	18271374	40857609	340	36743											
TSHZ3	57616	genome.wustl.edu	37	chr19	31769762	31769762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggcagggatgattttggcggCgacaggagtgacgggttcct	7	9	18	7	3	0	2	0	2	0	0	1	5	1	4	1	6	0	2	1	6	0	3	rs200738522		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:31769762C>T	ENST00000240587.4	-	2	1264	c.937G>A	c.(937-939)Gcc>Acc	p.A313T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	313					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)					ATTTTGGCGGCGACAGGAGTG	0.542																																																	0													86	87	87					19																	31769762		2203	4300	6503	SO:0001583	missense	0			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.937G>A	19.37:g.31769762C>T	ENSP00000240587:p.Ala313Thr		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.A313T	ENST00000240587.4	37	c.937	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	C	3.099	-0.185174	0.06340	.	.	ENSG00000121297	ENST00000240587	T	0.12039	2.72	5.46	0.995	0.19838	.	0.107758	0.64402	N	0.000007	T	0.06280	0.0162	N	0.08118	0	0.49389	D	0.999786	B	0.12630	0.006	B	0.08055	0.003	T	0.36504	-0.9745	10	0.29301	T	0.29	-1.1298	10.0143	0.42006	0.0:0.729:0.0:0.271	.	313	Q63HK5	TSH3_HUMAN	T	313	ENSP00000240587:A313T	ENSP00000240587:A313T	A	-	1	0	TSHZ3	36461602	0.977000	0.34250	0.029000	0.17559	0.209000	0.24338	2.485000	0.45250	0.036000	0.15547	-0.736000	0.03550	GCC	TSHZ3	-	NULL	ENSG00000121297		0.542	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0	34	0	C	NM_020856		31769762	-1	tier1	rs200738522	no_errors	ENST00000240587	ensembl	human	known	74_37	missense	21.69	61	18	SNP	0.907	T	T	31769762	C	T	31769762	3	4	144	1	0	0	0	0	1	0	0	0	16673	768	27	1	2312	1	TSHZ3	19	31769762	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	13498388	31769762	27359221	341	36744											
NPHS1	4868	genome.wustl.edu	37	chr19	36330497	36330497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacctttaatcctgatggaGggtcagggcggcctatgggg	8	9	15	9	1	1	1	1	1	0	0	2	2	2	2	3	6	1	0	3	6	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:36330497G>A	ENST00000378910.5	-	21	2827	c.2828C>T	c.(2827-2829)cCt>cTt	p.P943L	NPHS1_ENST00000353632.6_Missense_Mutation_p.P943L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	943	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTGATGGAGGGTCAGGGCG	0.517																																																	0													49	51	51					19																	36330497		2203	4300	6503	SO:0001583	missense	0				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.2828C>T	19.37:g.36330497G>A	ENSP00000368190:p.Pro943Leu		A6NDH2|C3RX61	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P943L	ENST00000378910.5	37	c.2828	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452836	0.63290	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.59772	0.24;0.24	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75605	-0.3260	10	0.28530	T	0.3	-17.0301	16.4567	0.84019	0.0:0.0:1.0:0.0	.	943	O60500	NPHN_HUMAN	L	943	ENSP00000368190:P943L;ENSP00000343634:P943L	ENSP00000343634:P943L	P	-	2	0	NPHS1	41022337	1.000000	0.71417	0.958000	0.39756	0.363000	0.29612	7.308000	0.78929	2.496000	0.84212	0.585000	0.79938	CCT	NPHS1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000161270		0.517	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	-	0	106	0	G			36330497	-1	tier1	-	no_errors	ENST00000378910	ensembl	human	known	74_37	missense	8.39	142	13	SNP	1.000	A	A	36330497	G	A	36330497	3	1	144	1	0	0	0	0	1	0	0	0	10621	1000	35	3	933	3	NPHS1	19	36330497	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	4560735	36330497	22798486	342	36745											
CAPNS1	826	genome.wustl.edu	37	chr19	36633589	36633589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactccaacattgaggccaaCgagagtgaggaggtccggca	12	6	13	10	2	0	3	0	2	0	1	2	5	2	4	3	4	3	1	3	4	3	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:36633589C>A	ENST00000246533.3	+	4	877	c.279C>A	c.(277-279)aaC>aaA	p.N93K	CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000588815.1_Missense_Mutation_p.N93K|CAPNS1_ENST00000589146.1_Intron|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Missense_Mutation_p.N93K|CAPNS1_ENST00000587718.1_Missense_Mutation_p.N93K	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	93	EF-hand 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00448}.				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)			TTGAGGCCAACGAGAGTGAGG	0.622																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)												0													129	134	133					19																	36633589		2203	4300	6503	SO:0001583	missense	0			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.279C>A	19.37:g.36633589C>A	ENSP00000246533:p.Asn93Lys		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.N93K	ENST00000246533.3	37	c.279	CCDS12489.1	19	.	.	.	.	.	.	.	.	.	.	c	13.45	2.239488	0.39598	.	.	ENSG00000126247	ENST00000246533	T	0.46819	0.86	4.73	2.3	0.28687	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	M	0.62723	1.935	0.80722	D	1	P	0.34800	0.469	B	0.21546	0.035	T	0.13229	-1.0517	10	0.48119	T	0.1	.	5.5173	0.16914	0.0:0.4571:0.0:0.5429	.	93	P04632	CPNS1_HUMAN	K	93	ENSP00000246533:N93K	ENSP00000246533:N93K	N	+	3	2	CAPNS1	41325429	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	0.554000	0.23407	0.393000	0.25203	0.655000	0.94253	AAC	CAPNS1	-	NULL	ENSG00000126247		0.622	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	HGNC	protein_coding	OTTHUMT00000457411.2	-	0	83	0	C			36633589	1	tier1	-	no_errors	ENST00000588780	ensembl	human	known	74_37	missense	9.41	77	8	SNP	1.000	A	A	36633589	C	A	36633589	3	1	144	1	0	0	0	0	1	0	0	0	2640	535	19	2	289	2	CAPNS1	19	36633589	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	303092	36633589	22495394	343	36746											
ZNF461	92283	genome.wustl.edu	37	chr19	37129824	37129824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtctaaaggccttacCacatatcatgcattcatgag	14	11	7	9	0	3	2	2	2	1	0	3	2	3	2	2	1	2	1	2	1	5	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:37129824C>T	ENST00000588268.1	-	6	1650	c.1423G>A	c.(1423-1425)Ggt>Agt	p.G475S	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.G452S	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	475					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)			AAGGCCTTACCACATATCATG	0.393																																																	0													59	63	61					19																	37129824		2200	4298	6498	SO:0001583	missense	0			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.1423G>A	19.37:g.37129824C>T	ENSP00000467931:p.Gly475Ser		A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G475S	ENST00000588268.1	37	c.1423	CCDS54257.1	19	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768159	0.69878	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605;ENST00000396892	T	0.07114	3.22	3.48	2.43	0.29744	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21307	0.0513	L	0.60845	1.875	0.34439	D	0.699376	D;D;D	0.76494	0.999;0.995;0.999	D;D;D	0.72338	0.977;0.925;0.977	T	0.19647	-1.0299	9	0.66056	D	0.02	.	9.5758	0.39457	0.0:0.8903:0.0:0.1097	.	452;397;475	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	S	475;206;452;348;169	ENSP00000353515:G452S	ENSP00000353515:G452S	G	-	1	0	ZNF461	41821664	0.997000	0.39634	0.991000	0.47740	0.889000	0.51656	3.401000	0.52601	0.787000	0.33731	0.491000	0.48974	GGT	ZNF461	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197808		0.393	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF461	HGNC	protein_coding	OTTHUMT00000453202.1	-	0	58	0	C	NM_153257		37129824	-1	tier1	-	no_errors	ENST00000588268	ensembl	human	known	74_37	missense	23.73	89	28	SNP	1.000	T	T	37129824	C	T	37129824	3	4	144	1	0	0	0	0	1	0	0	0	17973	594	21	3	272	3	ZNF461	19	37129824	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	496235	37129824	21999159	344	36747											
ZFP30	22835	genome.wustl.edu	37	chr19	38126679	38126679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggagattaagttgtcCtctaactctaaaggctttcc	10	15	8	8	0	2	2	0	1	2	1	4	3	4	2	2	2	1	2	2	2	4	6			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:38126679C>T	ENST00000351218.2	-	6	1320	c.763G>A	c.(763-765)Gga>Aga	p.G255R	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.G255R|ZFP30_ENST00000514101.2_Missense_Mutation_p.G255R	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			TTAAGTTGTCCTCTAACTCTA	0.428																																																	0													87	87	87					19																	38126679		2203	4300	6503	SO:0001583	missense	0			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.763G>A	19.37:g.38126679C>T	ENSP00000343581:p.Gly255Arg		Q58EY8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G255R	ENST00000351218.2	37	c.763	CCDS33005.1	19	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258800	0.39896	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144	T;T;T	0.07114	3.22;3.22;3.22	3.99	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34178	N	0.004199	T	0.13200	0.0320	N	0.16602	0.42	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.04005	-1.0985	10	0.59425	D	0.04	.	9.3874	0.38352	0.3353:0.6647:0.0:0.0	.	255;255	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	R	255	ENSP00000343581:G255R;ENSP00000422930:G255R;ENSP00000375988:G255R	ENSP00000343581:G255R	G	-	1	0	ZFP30	42818519	0.000000	0.05858	0.979000	0.43373	0.866000	0.49608	-0.918000	0.04021	2.223000	0.72356	0.655000	0.94253	GGA	ZFP30	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000120784		0.428	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	HGNC	protein_coding	OTTHUMT00000109601.2	-	0	54	0	C	NM_014898		38126679	-1	tier1	-	no_errors	ENST00000351218	ensembl	human	known	74_37	missense	11.65	91	12	SNP	0.037	T	T	38126679	C	T	38126679	3	4	144	1	0	0	0	0	1	0	0	0	17692	690	24	3	800	3	ZFP30	19	38126679	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	996855	38126679	21002304	345	36748											
PSG3	5671	genome.wustl.edu	37	chr19	43234055	43234055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatcctgttttcaatgggtCgctttaccctgggactgacc	6	13	11	11	1	1	1	1	1	0	0	3	3	2	3	3	3	1	2	3	3	2	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:43234055C>T	ENST00000327495.5	-	4	1047	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	PSG3_ENST00000595140.1_Missense_Mutation_p.R288Q	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	288	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)				TTCAATGGGTCGCTTTACCCT	0.483																																																	0													80	84	82					19																	43234055		1510	2702	4212	SO:0001583	missense	0				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.863G>A	19.37:g.43234055C>T	ENSP00000332215:p.Arg288Gln		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R288Q	ENST00000327495.5	37	c.863	CCDS12611.1	19	.	.	.	.	.	.	.	.	.	.	a	0.033	-1.319906	0.01320	.	.	ENSG00000221826	ENST00000327495	T	0.09350	2.99	1.1	-2.21	0.06973	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03136	0.0092	N	0.03608	-0.345	0.09310	N	1	B;B	0.24186	0.099;0.013	B;B	0.21917	0.037;0.009	T	0.34601	-0.9822	9	0.18710	T	0.47	.	0.1026	0.00049	0.3288:0.2364:0.2056:0.2292	.	266;288	Q08266;Q16557	.;PSG3_HUMAN	Q	288	ENSP00000332215:R288Q	ENSP00000332215:R288Q	R	-	2	0	PSG3	47925895	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.114000	0.10757	-2.467000	0.00532	-2.033000	0.00422	CGA	PSG3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000221826		0.483	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	PSG3	HGNC	protein_coding	OTTHUMT00000321423.2	-	0	174	0	C	NM_021016		43234055	-1	tier1	-	no_errors	ENST00000327495	ensembl	human	known	74_37	missense	24.11	362	115	SNP	0.000	T	T	43234055	C	T	43234055	3	4	144	1	0	0	0	0	1	0	0	0	12698	884	31	1	435	1	PSG3	19	43234055	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	5107376	43234055	15894928	346	36749											
PSG1	5669	genome.wustl.edu	37	chr19	43372351	43372351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	tatgctttgtagtaatatggCggataaagagcttttgtcct	10	16	10	5	1	0	1	0	0	0	1	1	2	1	2	1	2	2	4	1	2	6	8	rs150536125		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:43372351C>A	ENST00000436291.2	-	5	1261	c.1145G>T	c.(1144-1146)cGc>cTc	p.R382L	PSG1_ENST00000595356.1_Missense_Mutation_p.R382L|PSG1_ENST00000403380.3_Missense_Mutation_p.R289L|PSG1_ENST00000595124.1_Missense_Mutation_p.R289L|PSG1_ENST00000312439.6_Missense_Mutation_p.R382L|PSG1_ENST00000244296.2_Missense_Mutation_p.R382L	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	382	Ig-like C2-type 3.				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)				AGTAATATGGCGGATAAAGAG	0.463																																																	0													189	196	193					19																	43372351		2201	4298	6499	SO:0001583	missense	0				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.1145G>T	19.37:g.43372351C>A	ENSP00000413041:p.Arg382Leu		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R382L	ENST00000436291.2	37	c.1145	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	0.007	-1.999293	0.00435	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	1.07	-2.14	0.07123	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07279	0.0184	N	0.21545	0.675	0.09310	N	1	B;B;B;P;B;B;B	0.34699	0.022;0.073;0.045;0.464;0.003;0.0;0.293	B;B;B;B;B;B;B	0.36418	0.06;0.143;0.224;0.224;0.017;0.004;0.224	T	0.27606	-1.0069	9	0.22109	T	0.4	.	2.8303	0.05497	0.3844:0.2451:0.3705:0.0	.	382;289;382;289;382;289;254	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;B4DTG5	.;.;PSG1_HUMAN;.;.;.;.	L	382;289;382;382	ENSP00000413041:R382L;ENSP00000385386:R289L;ENSP00000308970:R382L;ENSP00000244296:R382L	ENSP00000244296:R382L	R	-	2	0	PSG1	48064191	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	-0.445000	0.06845	-2.096000	0.00852	-3.242000	0.00051	CGC	PSG1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000231924		0.463	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	-	0	175	0	C			43372351	-1	tier1	-	no_errors	ENST00000312439	ensembl	human	known	74_37	missense	24.32	306	99	SNP	0.003	A	A	43372351	C	A	43372351	3	1	144	1	0	0	0	0	1	0	0	0	12695	768	27	2	175	2	PSG1	19	43372351	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	138296	43372351	15756632	347	36750											
PSG11	5680	genome.wustl.edu	37	chr19	43522939	43522939	+	Frame_Shift_Del	DEL	A	A	-																															cacggaggagattcagggtgActgggtcactgcggctggca																										TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:43522939delA	ENST00000401740.1	-	3	795	c.692delT	c.(691-693)gtcfs	p.V231fs	PSG11_ENST00000306322.7_Frame_Shift_Del_p.V109fs|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Frame_Shift_Del_p.V109fs|PSG11_ENST00000320078.7_Frame_Shift_Del_p.V231fs			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	231	Ig-like C2-type 1.				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)				ATTCAGGGTGACTGGGTCACT	0.527																																																	0													190	200	197					19																	43522939		2201	4298	6499	SO:0001589	frameshift_variant	0			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.692delT	19.37:g.43522939delA	ENSP00000384995:p.Val231fs		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Frame_Shift_Del	DEL	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V231fs	ENST00000401740.1	37	c.692	CCDS12614.2	19																																																																																			PSG11	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000243130		0.527	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG11	HGNC	protein_coding	OTTHUMT00000323079.1		0	170	0	A	NM_002785		43522939	-1	tier1		no_errors	ENST00000320078	ensembl	human	known	74_37	frame_shift_del	18.57	307	70	DEL	0.007	-	-	43522939	A	-	43522939	7	5	144	1	0	1	0	1	0	0	0	0	12696	275	10	0	327	0	PSG11	19	43522939	Frame_Shift_Del	DEL	A	TCGA-R6-A6XG-01B-11D-A33E-09	150588	43522939	15606044	348	36751											
DACT3	147906	genome.wustl.edu	37	chr19	47151905	47151905	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaccagctgctgcggcCacacgaggccaccgctgccg	6	3	12	20	5	0	0	0	0	0	0	0	1	0	0	7	2	4	3	7	2	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:47151905C>T	ENST00000391916.2	-	4	1797	c.1724G>A	c.(1723-1725)tGg>tAg	p.W575*	DACT3_ENST00000300875.4_Nonsense_Mutation_p.W350*	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	575					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 epithelial to mesenchymal transition (GO:0010719)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		CTGCTGCGGCCACACGAGGCC	0.692																																																	0													29	41	37					19																	47151905		2186	4257	6443	SO:0001587	stop_gained	0				CCDS12688.2, CCDS74402.1	19q13.32	2013-05-15	2013-05-15	2006-09-25	ENSG00000197380	ENSG00000197380			30745	protein-coding gene	gene with protein product		611112	"arginine rich region 1", "dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)"	RRR1		16881060	Standard	NM_145056		Approved	MGC15476, DAPPER3	uc010ekq.3	Q96B18	OTTHUMG00000153070	ENST00000391916.2:c.1724G>A	19.37:g.47151905C>T	ENSP00000375783:p.Trp575*			Nonsense_Mutation	SNP	NULL	p.W575*	ENST00000391916.2	37	c.1724	CCDS12688.2	19	.	.	.	.	.	.	.	.	.	.	C	40	8.235001	0.98719	.	.	ENSG00000197380	ENST00000391916;ENST00000300875	.	.	.	3.11	3.11	0.35812	.	0.000000	0.40728	U	0.001037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2012	12.0067	0.53263	0.0:1.0:0.0:0.0	.	.	.	.	X	575;350	.	ENSP00000300875:W350X	W	-	2	0	DACT3	51843745	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.835000	0.75344	1.710000	0.51325	0.289000	0.19496	TGG	DACT3	-	NULL	ENSG00000197380		0.692	DACT3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	DACT3	HGNC	protein_coding	OTTHUMT00000334090.1	-	0	20	0	C	NM_145056		47151905	-1	tier1	-	no_errors	ENST00000391916	ensembl	human	known	74_37	nonsense	72.73	6	16	SNP	1.000	T	T	47151905	C	T	47151905	4	4	144	1	0	0	0	0	0	1	0	0	4232	595	21	3	169	3	DACT3	19	47151905	Nonsense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	3628966	47151905	11977078	349	36752											
LRRC4B	94030	genome.wustl.edu	37	chr19	51021420	51021420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccagacaccgtctgtcGtgggccctggcggttccttc	4	9	11	17	3	1	1	0	0	1	1	4	1	2	1	5	3	0	1	5	3	0	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:51021420G>A	ENST00000599957.1	-	3	1747	c.1550C>T	c.(1549-1551)aCg>aTg	p.T517M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.T517M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	517	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ACCGTCTGTCGTGGGCCCTGG	0.736																																																	0													8	10	9					19																	51021420		1794	3958	5752	SO:0001583	missense	0			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.1550C>T	19.37:g.51021420G>A	ENSP00000471502:p.Thr517Met		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T517M	ENST00000599957.1	37	c.1550	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262446	0.39995	.	.	ENSG00000131409	ENST00000389201	T	0.64260	-0.09	3.05	3.05	0.35203	.	0.166419	0.38605	U	0.001628	T	0.68467	0.3004	L	0.54323	1.7	0.32456	N	0.544812	D	0.89917	1.0	D	0.66602	0.945	T	0.72714	-0.4210	10	0.49607	T	0.09	.	7.548	0.27778	0.0:0.0:0.7445:0.2555	.	517	Q9NT99	LRC4B_HUMAN	M	517	ENSP00000373853:T517M	ENSP00000373853:T517M	T	-	2	0	LRRC4B	55713232	0.998000	0.40836	0.996000	0.52242	0.507000	0.33981	2.555000	0.45854	1.705000	0.51264	0.462000	0.41574	ACG	LRRC4B	-	NULL	ENSG00000131409		0.736	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	-	0	24	0	G	NM_001080457		51021420	-1	tier1	-	no_errors	ENST00000389201	ensembl	human	known	74_37	missense	43.33	17	13	SNP	1.000	A	A	51021420	G	A	51021420	3	1	144	1	0	0	0	0	1	0	0	0	9042	1145	40	1	595	1	LRRC4B	19	51021420	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3869515	51021420	8107563	350	36753											
HAS1	3036	genome.wustl.edu	37	chr19	52222984	52222984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctgaaaggaaggccccGtagaggccgaaggccaggag	11	3	17	10	3	0	2	0	1	0	1	0	5	0	4	4	5	1	2	4	5	4	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:52222984G>A	ENST00000222115.1	-	2	211	c.177C>T	c.(175-177)taC>taT	p.Y59Y	HAS1_ENST00000540069.2_Silent_p.Y58Y|HAS1_ENST00000601714.1_Silent_p.Y66Y|HAS1_ENST00000594621.1_5'Flank	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	59					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)		GGAAGGCCCCGTAGAGGCCGA	0.731																																					NSCLC(132;636 2450 45807 47979)												0													4	5	5					19																	52222984		2068	4125	6193	SO:0001819	synonymous_variant	0			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.177C>T	19.37:g.52222984G>A			Q14470|Q9NS49	Silent	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.Y66	ENST00000222115.1	37	c.198	CCDS12838.1	19																																																																																			HAS1	-	NULL	ENSG00000105509		0.731	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1	-	0	10	0	G	NM_001523		52222984	-1	tier1	-	no_errors	ENST00000601714	ensembl	human	known	74_37	silent	33.33	12	6	SNP	0.998	A	A	52222984	G	A	52222984	2	1	144	1	0	0	0	0	0	0	0	1	6988	1140	40	1		1	HAS1	19	52222984	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1201564	52222984	6905999	351	36754											
CACNG8	59283	genome.wustl.edu	37	chr19	54483237	54483237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggaacatcattctgggcGcagggatcctgttcgtggca	9	9	14	9	2	2	1	1	0	1	1	4	3	3	3	1	4	1	3	1	4	1	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:54483237G>A	ENST00000270458.2	+	3	587	c.484G>A	c.(484-486)Gca>Aca	p.A162T	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	162					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)		CATTCTGGGCGCAGGGATCCT	0.652																																																	0													35	35	35					19																	54483237		2202	4299	6501	SO:0001583	missense	0			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.484G>A	19.37:g.54483237G>A	ENSP00000270458:p.Ala162Thr		Q9BXT0|Q9BY23	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin	p.A162T	ENST00000270458.2	37	c.484	CCDS33104.1	19	.	.	.	.	.	.	.	.	.	.	.	34	5.301610	0.95601	.	.	ENSG00000142408	ENST00000270458	D	0.89617	-2.54	4.75	3.68	0.42216	.	0.081888	0.46442	U	0.000293	D	0.91570	0.7337	L	0.53780	1.695	0.29308	N	0.8681909999999999	D	0.71674	0.998	D	0.65233	0.933	D	0.93820	0.7118	9	0.87932	D	0	-2.4663	12.2439	0.54560	0.0:0.0:0.8281:0.1718	.	162	Q8WXS5	CCG8_HUMAN	T	162	ENSP00000270458:A162T	ENSP00000270458:A162T	A	+	1	0	CACNG8	59175049	1.000000	0.71417	0.639000	0.29394	0.991000	0.79684	7.435000	0.80391	1.121000	0.41925	0.531000	0.56144	GCA	CACNG8	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000142408		0.652	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	CACNG8	HGNC	protein_coding	OTTHUMT00000139361.3	-	0	119	0	G			54483237	1	tier1	-	no_errors	ENST00000270458	ensembl	human	known	74_37	missense	28.23	89	35	SNP	0.995	A	A	54483237	G	A	54483237	3	1	144	1	0	0	0	0	1	0	0	0	2570	1087	38	1	494	1	CACNG8	19	54483237	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2260253	54483237	4645746	352	36755											
ZNF581	51545	genome.wustl.edu	37	chr19	56156513	56156513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacactgcagaaacacacGcggtggaagcatccatgagc	15	4	10	12	2	0	2	0	1	0	1	1	3	1	3	1	2	5	2	1	2	3	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:56156513G>A	ENST00000587252.1	+	2	849	c.576G>A	c.(574-576)acG>acA	p.T192T	CCDC106_ENST00000308964.3_5'Flank|CCDC106_ENST00000586790.1_5'Flank|ZNF581_ENST00000270451.5_Silent_p.T192T|ZNF581_ENST00000588537.1_Silent_p.T192T			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGAAACACACGCGGTGGAAGC	0.632																																																	0													37	39	38					19																	56156513		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"Zinc fingers, C2H2-type"	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.576G>A	19.37:g.56156513G>A			B2RDM6	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T192	ENST00000587252.1	37	c.576	CCDS12932.1	19																																																																																			ZNF581	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171425		0.632	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF581	HGNC	protein_coding	OTTHUMT00000453430.1	-	0	212	0	G	NM_016535		56156513	1	tier1	-	no_errors	ENST00000270451	ensembl	human	known	74_37	silent	21.12	182	49	SNP	0.000	A	A	56156513	G	A	56156513	2	1	144	1	0	0	0	0	0	0	0	1	18061	1074	38	1		1	ZNF581	19	56156513	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	1673276	56156513	2972470	353	36756											
ZIM2	23619	genome.wustl.edu	37	chr19	57286732	57286732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccttcctggggatcctttCctagaggatcctttgattgt	5	16	10	10	0	0	2	0	1	0	1	4	4	4	4	5	3	1	0	5	3	1	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:57286732C>A	ENST00000391708.3	-	12	1450	c.908G>T	c.(907-909)gGa>gTa	p.G303V	AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.G303V|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.G303V|ZIM2_ENST00000593711.1_Missense_Mutation_p.G303V|ZIM2_ENST00000221722.5_Missense_Mutation_p.G303V	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	303					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(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GGGATCCTTTCCTAGAGGATC	0.453																																																	0													119	114	116					19																	57286732		2203	4300	6503	SO:0001583	missense	0			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.908G>T	19.37:g.57286732C>A	ENSP00000375589:p.Gly303Val		Q2M3K1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G303V	ENST00000391708.3	37	c.908	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538981	0.45176	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04758	3.56;3.56	3.89	0.45	0.16624	.	.	.	.	.	T	0.02494	0.0076	N	0.14661	0.345	.	.	.	B	0.32653	0.379	B	0.26517	0.07	T	0.40590	-0.9555	8	0.59425	D	0.04	.	2.8917	0.05678	0.3745:0.3962:0.0:0.2293	.	303	Q9NZV7	ZIM2_HUMAN	V	303	ENSP00000375589:G303V;ENSP00000221722:G303V	ENSP00000221722:G303V	G	-	2	0	ZIM2	61978544	0.000000	0.05858	0.131000	0.22000	0.731000	0.41821	-0.337000	0.07852	0.176000	0.19873	0.655000	0.94253	GGA	ZIM2	-	NULL	ENSG00000269699		0.453	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	HGNC	protein_coding	OTTHUMT00000416094.2	-	0	48	0	C			57286732	-1	tier1	-	no_errors	ENST00000221722	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.918	A	A	57286732	C	A	57286732	3	1	144	1	0	0	0	0	1	0	0	0	17732	855	30	3	679	3	ZIM2	19	57286732	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	1130219	57286732	1842251	354	36757											
USP29	57663	genome.wustl.edu	37	chr19	57641839	57641839	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacccgttgaaccagacaAgaatgccgacctacaaagat	15	7	7	12	2	1	4	0	1	1	3	1	5	1	4	4	0	4	1	4	0	6	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr19:57641839A>C	ENST00000254181.4	+	4	2250	c.1796A>C	c.(1795-1797)aAg>aCg	p.K599T	USP29_ENST00000598197.1_Missense_Mutation_p.K599T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	599	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)		GAACCAGACAAGAATGCCGAC	0.478																																																	0													68	67	68					19																	57641839		2203	4300	6503	SO:0001583	missense	0				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.1796A>C	19.37:g.57641839A>C	ENSP00000254181:p.Lys599Thr			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.K599T	ENST00000254181.4	37	c.1796	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	A	10.76	1.441021	0.25900	.	.	ENSG00000131864	ENST00000254181	T	0.50001	0.76	2.52	-1.06	0.10002	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.35624	0.0938	L	0.41824	1.3	0.09310	N	1	P	0.48503	0.911	P	0.47470	0.548	T	0.19451	-1.0305	9	0.20519	T	0.43	-0.4653	2.186	0.03887	0.4181:0.0:0.323:0.2589	.	599	Q9HBJ7	UBP29_HUMAN	T	599	ENSP00000254181:K599T	ENSP00000254181:K599T	K	+	2	0	USP29	62333651	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.011000	0.13264	-0.371000	0.08004	0.383000	0.25322	AAG	USP29	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000131864		0.478	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	-	0	30	0	A			57641839	1	tier1	-	no_errors	ENST00000254181	ensembl	human	known	74_37	missense	26.32	56	20	SNP	0.000	C	C	57641839	A	C	57641839	3	2	144	1	0	0	0	0	1	0	0	0	17108	72	3	4	1798	4	USP29	19	57641839	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09	355107	57641839	1487144	355	36758											
IDH3B	3420	genome.wustl.edu	37	chr20	2639430	2639430	+	Silent	SNP	A	A	C	1	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	gtctgcaggtgaccgatgacAgacttgatgaagtcggttgt	9	11	14	7	2	1	5	0	4	1	1	2	6	1	5	1	2	1	2	1	2	1	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr20:2639430A>C	ENST00000380843.4	-	12	1155	c.1125T>G	c.(1123-1125)tcT>tcG	p.S375S	IDH3B_ENST00000380851.5_Intron|IDH3B_ENST00000488299.1_5'UTR|SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	375					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						GACCGATGACAGACTTGATGA	0.567																																																	0													172	150	158					20																	2639430		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1125T>G	20.37:g.2639430A>C			B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Silent	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.S375	ENST00000380843.4	37	c.1125	CCDS13032.1	20																																																																																			IDH3B	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	ENSG00000101365		0.567	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	HGNC	protein_coding	OTTHUMT00000077613.1	-	0	94	0	A			2639430	-1	tier1	-	no_errors	ENST00000380843	ensembl	human	known	74_37	silent	35.29	44	24	SNP	0.994	C	C	2639430	A	C	2639430	2	2	144	1	0	0	0	0	0	0	0	1	7524	175	7	4		4	IDH3B	20	2639430	Silent	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09		2639430	60386090	356	36759											
ATRN	8455	genome.wustl.edu	37	chr20	3578567	3578567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagatactcttcttattGactatcagttcacctttagt	10	17	4	10	0	4	2	2	1	2	1	4	2	4	2	2	0	1	1	2	0	5	9			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr20:3578567G>T	ENST00000262919.5	+	22	3552	c.3484G>T	c.(3484-3486)Gac>Tac	p.D1162Y	ATRN_ENST00000446916.2_Missense_Mutation_p.D1162Y	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1162					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTTCTTATTGACTATCAGTT	0.333																																																	0													161	152	155					20																	3578567		2203	4300	6503	SO:0001583	missense	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3484G>T	20.37:g.3578567G>T	ENSP00000262919:p.Asp1162Tyr		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.D1162Y	ENST00000262919.5	37	c.3484	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567741	0.86439	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.51325	0.71;0.71	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.977;0.999	T	0.74109	-0.3771	10	0.87932	D	0	-26.5239	20.4745	0.99168	0.0:0.0:1.0:0.0	.	1162;1162	O75882;O75882-2	ATRN_HUMAN;.	Y	1162;1162;1088	ENSP00000262919:D1162Y;ENSP00000416587:D1162Y	ENSP00000262919:D1162Y	D	+	1	0	ATRN	3526567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.798000	0.99111	2.941000	0.99782	0.655000	0.94253	GAC	ATRN	-	NULL	ENSG00000088812		0.333	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2		0	26	0	G	NM_139321		3578567	1			no_errors	ENST00000262919	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	3578567	G	T	3578567	3	4	144	1	0	0	0	0	1	0	0	0	1207	1290	45	3	3570	3	ATRN	20	3578567	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	939137	3578567	59446953	357	36760											
SFRS6	6431	genome.wustl.edu	37	chr20	42088794	42088794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctttggacaaactggatgGcacagaaataaatggcagaa	16	8	11	6	0	0	2	0	0	0	2	0	4	0	4	0	4	2	3	0	4	5	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr20:42088794G>A	ENST00000244020.3	+	4	609	c.503G>A	c.(502-504)gGc>gAc	p.G168D		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	168	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						AAACTGGATGGCACAGAAATA	0.443																																																	0													112	108	110					20																	42088794		2203	4297	6500	SO:0001583	missense	0			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.503G>A	20.37:g.42088794G>A	ENSP00000244020:p.Gly168Asp		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.G168D	ENST00000244020.3	37	c.503	CCDS13318.1	20	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255789	0.59321	.	.	ENSG00000124193	ENST00000244020	T	0.26067	1.76	6.08	6.08	0.98989	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.043260	0.85682	D	0.000000	T	0.40448	0.1117	L	0.45470	1.425	0.80722	D	1	P;P	0.49358	0.923;0.65	P;P	0.58266	0.836;0.679	T	0.01472	-1.1346	10	0.12766	T	0.61	.	19.4436	0.94836	0.0:0.0:1.0:0.0	.	168;168	Q13247;A8K588	SRSF6_HUMAN;.	D	168	ENSP00000244020:G168D	ENSP00000244020:G168D	G	+	2	0	SRSF6	41522208	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	7.895000	0.87343	2.894000	0.99253	0.591000	0.81541	GGC	SRSF6	-	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	ENSG00000124193		0.443	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF6	HGNC	protein_coding	OTTHUMT00000079292.1		0	74	0	G	NM_006275		42088794	1			no_errors	ENST00000244020	ensembl	human	known	74_37	missense	5.43	87	5	SNP	1.000	A	A	42088794	G	A	42088794	3	1	144	1	0	0	0	0	1	0	0	0	14226	1203	42	3	517	3	SFRS6	20	42088794	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	38510227	42088794	20936726	358	36761											
HNF4A	3172	genome.wustl.edu	37	chr20	43047127	43047127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagccaccaagagatccatGgtgttcaaggacgtgctgct	10	8	13	10	1	1	1	1	0	0	1	2	4	2	3	3	3	3	3	3	3	2	1			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr20:43047127G>T	ENST00000316099.4	+	6	800	c.711G>T	c.(709-711)atG>atT	p.M237I	HNF4A_ENST00000457232.1_Missense_Mutation_p.M215I|HNF4A_ENST00000415691.2_Missense_Mutation_p.M237I|HNF4A_ENST00000443598.2_Missense_Mutation_p.M237I|HNF4A_ENST00000609795.1_Missense_Mutation_p.M215I|HNF4A_ENST00000316673.4_Missense_Mutation_p.M215I	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	237					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)			AGAGATCCATGGTGTTCAAGG	0.612																																					Colon(79;2 1269 8820 14841 52347)												0													115	101	106					20																	43047127		2203	4300	6503	SO:0001583	missense	0			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.711G>T	20.37:g.43047127G>T	ENSP00000312987:p.Met237Ile		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.M237I	ENST00000316099.4	37	c.711	CCDS13330.1	20	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278976	0.40294	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03	5.33	5.33	0.75918	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.94019	0.8084	L	0.48260	1.515	0.80722	D	1	B;B;B;B;B;B;B	0.26483	0.049;0.002;0.002;0.15;0.049;0.04;0.043	B;B;B;B;B;B;B	0.25140	0.058;0.04;0.04;0.058;0.058;0.034;0.031	D	0.91868	0.5505	10	0.16896	T	0.51	.	19.006	0.92851	0.0:0.0:1.0:0.0	.	230;237;237;237;215;215;215	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	I	215;215;237;237;267;237	ENSP00000315180:M215I;ENSP00000396216:M215I;ENSP00000312987:M237I;ENSP00000410911:M237I;ENSP00000412111:M237I	ENSP00000312987:M237I	M	+	3	0	HNF4A	42480541	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.995000	0.88328	2.481000	0.83766	0.462000	0.41574	ATG	HNF4A	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000101076		0.612	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	-	0	26	0	G			43047127	1	tier1	-	no_errors	ENST00000316099	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	43047127	G	T	43047127	3	4	144	1	0	0	0	0	1	0	0	0	7280	1348	47	3	786	3	HNF4A	20	43047127	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	958333	43047127	19978393	359	36762											
BCAS4	55653	genome.wustl.edu	37	chr20	49446909	49446909	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctatgccaaagtggacCggctagaggtacgtctaggc	10	8	13	10	2	2	1	0	0	2	1	2	2	2	2	2	4	2	3	2	4	5	4			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr20:49446909C>G	ENST00000358791.5	+	3	446	c.346C>G	c.(346-348)Cgg>Ggg	p.R116G	BCAS4_ENST00000262591.5_Missense_Mutation_p.R116G|BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000609336.1_Missense_Mutation_p.R86G|BCAS4_ENST00000371608.2_Missense_Mutation_p.R116G	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	116						cytoplasm (GO:0005737)				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CAAAGTGGACCGGCTAGAGGT	0.502																																																	0													136	109	118					20																	49446909		2203	4300	6503	SO:0001583	missense	0			AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.346C>G	20.37:g.49446909C>G	ENSP00000351642:p.Arg116Gly		Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Missense_Mutation	SNP	NULL	p.R116G	ENST00000358791.5	37	c.346	CCDS33487.1	20	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204441	0.38905	.	.	ENSG00000124243	ENST00000358791;ENST00000262591;ENST00000355583;ENST00000371608	T;T;T	0.48201	1.85;0.87;0.82	5.52	4.52	0.55395	.	0.616213	0.15427	N	0.262895	T	0.39517	0.1081	L	0.32530	0.975	0.24761	N	0.992925	P;P;P;P	0.47191	0.761;0.761;0.891;0.491	B;B;B;B	0.43754	0.338;0.202;0.43;0.202	T	0.31641	-0.9936	10	0.62326	D	0.03	-16.9791	9.9024	0.41355	0.2529:0.7471:0.0:0.0	.	116;116;116;116	Q8TDM0-2;Q8TDM0-3;Q8TDM0;F8WE92	.;.;BCAS4_HUMAN;.	G	116	ENSP00000351642:R116G;ENSP00000262591:R116G;ENSP00000360669:R116G	ENSP00000262591:R116G	R	+	1	2	BCAS4	48880316	0.969000	0.33509	0.970000	0.41538	0.514000	0.34195	2.360000	0.44151	2.597000	0.87782	0.655000	0.94253	CGG	BCAS4	-	NULL	ENSG00000124243		0.502	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS4	HGNC	protein_coding	OTTHUMT00000079700.1	-	0	89	0	C	NM_017843		49446909	1	tier1	-	no_errors	ENST00000358791	ensembl	human	known	74_37	missense	9.21	137	14	SNP	0.932	G	G	49446909	C	G	49446909	3	3	144	1	0	0	0	0	1	0	0	0	1354	643	23	5	356	5	BCAS4	20	49446909	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	6399782	49446909	13578611	360	36763											
CBLN4	140689	genome.wustl.edu	37	chr20	54579078	54579078	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggagcccttggagtcCgtggccgggttcgagtcgca	7	7	17	10	4	0	1	0	0	0	1	3	5	1	3	3	4	1	2	3	4	1	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr20:54579078C>T	ENST00000064571.2	-	1	1450	c.150G>A	c.(148-150)acG>acA	p.T50T		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	50					protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CCTTGGAGTCCGTGGCCGGGT	0.677																																																	0													61	61	61					20																	54579078		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"cerebellin precursor-like 1"	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.150G>A	20.37:g.54579078C>T			A8K0S5	Silent	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.T50	ENST00000064571.2	37	c.150	CCDS13448.1	20																																																																																			CBLN4	-	NULL	ENSG00000054803		0.677	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN4	HGNC	protein_coding	OTTHUMT00000079783.2	-	0	30	0	C	NM_080617		54579078	-1	tier1	-	no_errors	ENST00000064571	ensembl	human	known	74_37	silent	17.14	29	6	SNP	0.992	T	T	54579078	C	T	54579078	2	4	144	1	0	0	0	0	0	0	0	1	2714	639	23	1		1	CBLN4	20	54579078	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	5132169	54579078	8446442	361	36764											
SON	6651	genome.wustl.edu	37	chr21	34932343	34932343	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacatccctacccaacattgGgccctccctgcacttgtggg	7	9	8	17	0	0	0	0	0	0	0	2	0	2	0	4	2	3	1	4	2	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr21:34932343G>T	ENST00000356577.4	+	6	7132				SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.G2273V|SON_ENST00000290239.6_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein						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						CCCAACATTGGGCCCTCCCTG	0.443																																																	0													130	116	121					21																	34932343		2203	4300	6503	SO:0001627	intron_variant	0			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.6657+262G>T	21.37:g.34932343G>T			D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.G2273V	ENST00000356577.4	37	c.6818	CCDS13629.1	21	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917040	0.33815	.	.	ENSG00000159140	ENST00000300278	T	0.10960	2.82	5.58	5.58	0.84498	.	.	.	.	.	T	0.34948	0.0915	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04693	-1.0933	8	0.87932	D	0	.	15.0702	0.72030	0.0:0.0:1.0:0.0	.	2273	P18583-3	.	V	2273	ENSP00000300278:G2273V	ENSP00000300278:G2273V	G	+	2	0	SON	33854213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.489000	0.60309	2.629000	0.89072	0.563000	0.77884	GGG	SON	-	NULL	ENSG00000159140		0.443	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	-	0	58	0	G	NM_138927		34932343	1	tier1	-	no_errors	ENST00000300278	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	34932343	G	T	34932343	1	4	144	0	1	0	0	0	0	0	0	0	14971	1232	43	3		3	SON	21	34932343	Intron	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09		34932343	13197552	362	36765											
SIK1	150094	genome.wustl.edu	37	chr21	44837639	44837639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttcctcagctgctgcCgaaaggccttcagccctgca	6	10	10	15	1	3	0	2	0	1	0	4	1	4	0	4	2	5	3	4	2	1	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr21:44837639C>T	ENST00000270162.6	-	13	1892	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	587	RK-rich region. {ECO:0000250}.				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)	CAGCTGCTGCCGAAAGGCCTT	0.637																																																	0													28	21	23					21																	44837639		2192	4290	6482	SO:0001583	missense	0			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.1760G>A	21.37:g.44837639C>T	ENSP00000270162:p.Arg587Gln		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R587Q	ENST00000270162.6	37	c.1760	CCDS33575.1	21	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737596	0.89573	.	.	ENSG00000142178	ENST00000270162	D	0.86097	-2.07	4.05	4.05	0.47172	.	0.000000	0.85682	D	0.000000	D	0.88288	0.6396	M	0.79475	2.455	0.53005	D	0.999961	D	0.63880	0.993	P	0.50136	0.632	D	0.90412	0.4410	10	0.72032	D	0.01	.	14.7637	0.69623	0.0:1.0:0.0:0.0	.	587	P57059	SIK1_HUMAN	Q	587	ENSP00000270162:R587Q	ENSP00000270162:R587Q	R	-	2	0	SIK1	43662067	1.000000	0.71417	0.998000	0.56505	0.735000	0.41995	6.633000	0.74286	1.973000	0.57446	0.561000	0.74099	CGG	SIK1	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000142178		0.637	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	HGNC	protein_coding	OTTHUMT00000195654.1	-	0	187	0	C	NM_173354		44837639	-1	tier1	-	no_errors	ENST00000270162	ensembl	human	known	74_37	missense	37.07	73	43	SNP	1.000	T	T	44837639	C	T	44837639	3	4	144	1	0	0	0	0	1	0	0	0	14362	652	23	1	599	1	SIK1	21	44837639	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	9905296	44837639	3292256	363	36766											
COL6A2	1292	genome.wustl.edu	37	chr21	47552323	47552323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaacgtggtacccaccGtgctggccttgggcagcgac	8	6	14	13	3	0	1	0	0	0	1	0	2	0	1	3	3	5	4	3	3	2	2	rs145959270		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr21:47552323G>T	ENST00000300527.4	+	28	3021	c.2917G>T	c.(2917-2919)Gtg>Ttg	p.V973L		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	973	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGTACCCACCGTGCTGGCCTT	0.652																																																	0													71	61	64					21																	47552323		2202	4300	6502	SO:0001583	missense	0			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.2917G>T	21.37:g.47552323G>T	ENSP00000300527:p.Val973Leu		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V973L	ENST00000300527.4	37	c.2917	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508554	0.44660	.	.	ENSG00000142173	ENST00000300527	D	0.86097	-2.07	4.4	4.4	0.53042	von Willebrand factor, type A (3);	0.069431	0.56097	D	0.000024	D	0.85843	0.5791	L	0.49350	1.555	0.80722	D	1	P	0.44006	0.824	P	0.50791	0.65	D	0.86586	0.1857	10	0.56958	D	0.05	-16.4704	12.1528	0.54059	0.0:0.0:0.8287:0.1713	.	973	P12110	CO6A2_HUMAN	L	973	ENSP00000300527:V973L	ENSP00000300527:V973L	V	+	1	0	COL6A2	46376751	1.000000	0.71417	0.998000	0.56505	0.321000	0.28281	7.542000	0.82095	2.001000	0.58596	0.297000	0.19635	GTG	COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142173		0.652	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0	40	0	G			47552323	1	tier1	-	no_errors	ENST00000300527	ensembl	human	known	74_37	missense	46.43	15	13	SNP	0.998	T	T	47552323	G	T	47552323	3	4	144	1	0	0	0	0	1	0	0	0	3707	1145	40	2	3353	2	COL6A2	21	47552323	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2714684	47552323	577572	364	36767											
POTEH	23784	genome.wustl.edu	37	chr22	16279269	16279269	+	Missense_Mutation	SNP	A	A	T	1	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	accacttgctgtttttgctcAtgtacaccaagtaacagtgg	10	13	8	10	0	1	0	1	0	0	0	1	0	1	0	2	1	4	5	2	1	3	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr22:16279269A>T	ENST00000343518.6	-	4	1005	c.954T>A	c.(952-954)caT>caA	p.H318Q	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	318										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTTTTGCTCATGTACACCAA	0.328																																																	0																																										SO:0001583	missense	0			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.954T>A	22.37:g.16279269A>T	ENSP00000340610:p.His318Gln		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H318Q	ENST00000343518.6	37	c.954	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	4.641	0.119243	0.08881	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.51071	0.72	1.38	0.136	0.14780	Ankyrin repeat-containing domain (3);	2.018720	0.03867	U	0.274988	T	0.22859	0.0552	N	0.03917	-0.325	0.09310	N	1	P;P	0.37781	0.605;0.608	B;B	0.38378	0.259;0.272	T	0.10132	-1.0643	10	0.13853	T	0.58	.	4.0251	0.09683	0.6189:0.3811:0.0:0.0	.	318;281	Q6S545;A6NKF6	POTEH_HUMAN;.	Q	281;318	ENSP00000340610:H318Q	ENSP00000340610:H318Q	H	-	3	2	POTEH	14659269	0.073000	0.21202	0.003000	0.11579	0.095000	0.18619	0.435000	0.21510	-0.001000	0.14495	0.147000	0.16070	CAT	POTEH	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000198062		0.328	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	-	0	487	0	A	NM_001136213		16279269	-1	tier1	-	no_errors	ENST00000343518	ensembl	human	known	74_37	missense	8.46	701	65	SNP	0.022	T	T	16279269	A	T	16279269	3	4	144	1	0	0	0	0	1	0	0	0	12306	214	8	5	711	5	POTEH	22	16279269	Missense_Mutation	SNP	A	TCGA-R6-A6XG-01B-11D-A33E-09		16279269	35025297	365	36768											
SGSM1	129049	genome.wustl.edu	37	chr22	25243762	25243762	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcagctgatcgagagcGcgtgagtgcaaagcatgggg	10	6	18	7	3	0	3	0	2	0	1	1	5	0	4	0	3	5	4	0	3	1	0	rs538422718	byFrequency	TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr22:25243762G>T	ENST00000400359.4	+	4	308	c.301G>T	c.(301-303)Gcg>Tcg	p.A101S	SGSM1_ENST00000400358.4_Splice_Site_p.A101S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	101	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					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						GATCGAGAGCGCGTGAGTGCA	0.577																																																	0													20	21	20					22																	25243762		2040	4199	6239	SO:0001630	splice_region_variant	0			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.302+1G>T	22.37:g.25243762G>T			A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.A101S	ENST00000400359.4	37	c.301	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	G	1.779	-0.482349	0.04383	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.29655	1.56;1.56	3.95	-3.42	0.04825	RUN (2);	0.639174	0.17621	N	0.167709	T	0.09686	0.0238	N	0.02539	-0.55	0.32783	N	0.502214	B;B;B;B;B	0.27559	0.021;0.026;0.15;0.065;0.181	B;B;B;B;B	0.29862	0.032;0.046;0.066;0.098;0.108	T	0.40194	-0.9576	10	0.10902	T	0.67	-3.4421	9.8588	0.41101	0.5816:0.0:0.4184:0.0	.	101;76;76;101;76	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	S	76;101;101	ENSP00000383211:A101S;ENSP00000383212:A101S	ENSP00000383211:A101S	A	+	1	0	SGSM1	23573762	0.887000	0.30362	0.550000	0.28217	0.466000	0.32739	0.082000	0.14847	-0.693000	0.05121	-1.267000	0.01435	GCG	SGSM1	-	pfam_Run,pfscan_Run	ENSG00000167037		0.577	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	-	0	112	0	G	XM_059318	Missense_Mutation	25243762	1	tier1	-	no_errors	ENST00000400359	ensembl	human	known	74_37	missense	19.33	96	23	SNP	0.737	T	T	25243762	G	T	25243762	5	4	144	1	0	0	0	0	0	0	1	0	14267	1101	38	2	315	2	SGSM1	22	25243762	Splice_Site	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	8964493	25243762	26060804	366	36769											
MYO18B	84700	genome.wustl.edu	37	chr22	26231269	26231269	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttctcccagcaggtccgcTtaccagctggaggaggtgcc	6	8	14	13	1	1	0	0	0	1	0	3	2	2	2	4	5	4	4	4	5	1	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr22:26231269T>C	ENST00000407587.2	+	17	3239	c.3070T>C	c.(3070-3072)Tta>Cta	p.L1024L	MYO18B_ENST00000536101.1_Silent_p.L1023L|MYO18B_ENST00000335473.7_Silent_p.L1023L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1023	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCAGGTCCGCTTACCAGCTGG	0.572																																																	0													37	39	38					22																	26231269		1897	4123	6020	SO:0001819	synonymous_variant	0			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.3070T>C	22.37:g.26231269T>C			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1023	ENST00000407587.2	37	c.3067		22																																																																																			MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	53	0	T	NM_032608		26231269	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	silent	66.67	26	52	SNP	0.003	C	C	26231269	T	C	26231269	2	2	144	1	0	0	0	0	0	0	0	1	10104	1606	56	4		4	MYO18B	22	26231269	Silent	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	987507	26231269	25073297	367	36770											
LARGE	9215	genome.wustl.edu	37	chr22	33712229	33712229	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagctcagacagctgcttCtggagctgcagggtaggaga	9	8	14	10	0	2	2	1	0	1	2	3	4	3	3	1	3	5	6	1	3	1	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr22:33712229C>T	ENST00000354992.2	-	12	1864	c.1293G>A	c.(1291-1293)caG>caA	p.Q431Q	LARGE_ENST00000437602.2_Silent_p.Q431Q|LARGE_ENST00000452586.2_Silent_p.Q230Q|LARGE_ENST00000337431.2_Silent_p.Q379Q|LARGE_ENST00000397394.2_Silent_p.Q431Q|LARGE_ENST00000402320.1_Silent_p.Q379Q	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	431					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)				ACAGCTGCTTCTGGAGCTGCA	0.607																																					Colon(70;397 1175 4573 19089 45288)												0													83	68	73					22																	33712229		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1293G>A	22.37:g.33712229C>T			B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	pfam_Glyco_trans_8	p.Q431	ENST00000354992.2	37	c.1293	CCDS13912.1	22																																																																																			LARGE	-	NULL	ENSG00000133424		0.607	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	-	0	30	0	C	NM_133642		33712229	-1	tier1	-	no_errors	ENST00000354992	ensembl	human	known	74_37	silent	41.30	27	19	SNP	1.000	T	T	33712229	C	T	33712229	2	4	144	1	0	0	0	0	0	0	0	1	8655	912	32	3		3	LARGE	22	33712229	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	7480960	33712229	17592337	368	36771											
APOL1	8542	genome.wustl.edu	37	chr22	36661572	36661572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcagtaccatggactaCggaaagaagtggtggacaca	15	5	12	9	1	0	1	0	0	0	1	0	4	0	4	2	4	3	2	2	4	4	2	rs566062739		TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr22:36661572C>T	ENST00000397278.3	+	6	919	c.690C>T	c.(688-690)taC>taT	p.Y230Y	APOL1_ENST00000347595.7_Silent_p.Y109Y|APOL1_ENST00000397279.4_Silent_p.Y230Y|APOL1_ENST00000319136.4_Silent_p.Y246Y|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000422706.1_Silent_p.Y230Y|APOL1_ENST00000426053.1_Silent_p.Y212Y	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	230					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CCATGGACTACGGAAAGAAGT	0.522													c|||	1	0.000199681	8e-04	0	5008	,	,		21672	0		0	False		,,,				2504	0																0													99	94	95					22																	36661572		2203	4300	6503	SO:0001819	synonymous_variant	0			AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"Apolipoproteins"	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.690C>T	22.37:g.36661572C>T			A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Silent	SNP	pfam_ApoL	p.Y246	ENST00000397278.3	37	c.738	CCDS13926.1	22																																																																																			APOL1	-	pfam_ApoL	ENSG00000100342		0.522	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL1	HGNC	protein_coding	OTTHUMT00000319100.4	-	0	62	0	C	NM_145343		36661572	1	tier1	-	no_errors	ENST00000319136	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.000	T	T	36661572	C	T	36661572	2	4	144	1	0	0	0	0	0	0	0	1	805	547	19	1		1	APOL1	22	36661572	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	2949343	36661572	14642994	369	36772											
SHANK3	85358	genome.wustl.edu	37	chr22	51159738	51159738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagggtccctggcttccccGgctttctccccacggagccc	3	8	11	19	3	1	0	0	0	1	0	4	2	3	1	6	4	1	2	6	4	0	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chr22:51159738G>A	ENST00000414786.2	+	21	3662	c.3435G>A	c.(3433-3435)ccG>ccA	p.P1145P	SHANK3_ENST00000445220.2_Silent_p.P1161P|SHANK3_ENST00000262795.3_Silent_p.P1175P			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1159					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)		TGGCTTCCCCGGCTTTCTCCC	0.687																																																	0													23	28	26					22																	51159738		1903	4099	6002	SO:0001819	synonymous_variant	0			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.3435G>A	22.37:g.51159738G>A			D7UT47|Q8TET3	Silent	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P1175	ENST00000414786.2	37	c.3525		22																																																																																			SHANK3	-	NULL	ENSG00000251322		0.687	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	-	0	88	0	G	NM_001080420		51159738	1	tier1	-	no_errors	ENST00000262795	ensembl	human	known	74_37	silent	36.08	62	35	SNP	0.975	A	A	51159738	G	A	51159738	2	1	144	1	0	0	0	0	0	0	0	1	14311	1103	39	1		1	SHANK3	22	51159738	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	14498166	51159738	144828	370	36773											
ZBED1	9189	genome.wustl.edu	37	chrX	2407512	2407512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcaccatgctgatggtggGgtacctggaggccgacagca	8	8	14	11	1	1	1	1	1	0	0	1	3	1	2	3	5	3	3	3	5	1	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chrX:2407512G>A	ENST00000381223.4	-	2	1452	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Missense_Mutation_p.P417S|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.P417S	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	417					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)				CTGATGGTGGGGTACCTGGAG	0.627																																																	0													127	112	117					X																	2407512		2203	4296	6499	SO:0001583	missense	0			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.1249C>T	X.37:g.2407512G>A	ENSP00000370621:p.Pro417Ser		Q96BY4	Missense_Mutation	SNP	pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.P417S	ENST00000381223.4	37	c.1249	CCDS14118.1	X	.	.	.	.	.	.	.	.	.	.	G	8.053	0.766414	0.15983	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.23754	1.89;1.89;1.89	3.06	3.06	0.35304	Ribonuclease H-like (1);	0.185776	0.33057	N	0.005325	T	0.46658	0.1404	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.33343	-0.9872	9	0.45353	T	0.12	-47.0428	13.6519	0.62316	0.0:0.0:1.0:0.0	.	417	O96006	ZBED1_HUMAN	S	417	ENSP00000370621:P417S;ENSP00000370620:P417S;ENSP00000370616:P417S	ENSP00000370616:P417S	P	-	1	0	ZBED1	2417512	1.000000	0.71417	0.542000	0.28115	0.156000	0.22039	6.419000	0.73345	1.155000	0.42497	0.519000	0.50382	CCC	ZBED1	-	superfamily_RNaseH-like_dom	ENSG00000214717		0.627	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3	-	0	80	0	G	NM_004729		2407512	-1	tier1	-	no_errors	ENST00000381218	ensembl	human	known	74_37	missense	10.81	66	8	SNP	1.000	A	A	2407512	G	A	2407512	3	1	144	1	0	0	0	0	1	0	0	0	17566	1232	43	3	839	3	ZBED1	23	2407512	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09		2407512	152863048	371	36774											
NLGN4X	57502	genome.wustl.edu	37	chrX	6069501	6069501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagcagtccctggggccGtgacatggttcaaatctgca	9	9	11	12	1	2	1	1	1	1	0	3	1	3	1	3	3	2	3	3	3	2	2			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chrX:6069501G>A	ENST00000381095.3	-	2	634	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R3W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R3W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R3W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R3W	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	3					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						CCCTGGGGCCGTGACATGGTT	0.532													G|||	1	0.000264901	0	0	3775	,	,		14236	0.001		0	False		,,,				2504	0																0													74	53	60					X																	6069501		2203	4300	6503	SO:0001583	missense	0			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.7C>T	X.37:g.6069501G>A	ENSP00000370485:p.Arg3Trp		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R3W	ENST00000381095.3	37	c.7	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	G	6.620	0.482807	0.12581	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67345	-0.26;-0.25;-0.26;-0.26;-0.26	4.07	2.89	0.33648	.	.	.	.	.	T	0.38799	0.1054	N	0.08118	0	0.29310	N	0.868061	P;B;B	0.41159	0.74;0.0;0.0	B;B;B	0.26969	0.075;0.0;0.001	T	0.23332	-1.0191	9	0.56958	D	0.05	.	9.2914	0.37789	0.0:0.0:0.2027:0.7973	.	3;3;3	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	W	3	ENSP00000370485:R3W;ENSP00000370483:R3W;ENSP00000275857:R3W;ENSP00000370482:R3W;ENSP00000439203:R3W	ENSP00000275857:R3W	R	-	1	2	NLGN4X	6079501	0.979000	0.34478	0.193000	0.23327	0.244000	0.25665	0.986000	0.29590	0.343000	0.23821	-0.371000	0.07208	CGG	NLGN4X	-	NULL	ENSG00000146938		0.532	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	-	0	34	0	G	NM_020742		6069501	-1	tier1	-	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	74.51	13	38	SNP	0.967	A	A	6069501	G	A	6069501	3	1	144	1	0	0	0	0	1	0	0	0	10503	1144	40	1	2463	1	NLGN4X	23	6069501	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3661989	6069501	149201059	372	36775											
MAGEB10	139422	genome.wustl.edu	37	chrX	27839520	27839520	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgctctggacattttaGaagaggaggaagaatctccc	13	10	11	7	0	2	4	0	0	2	4	3	7	2	7	1	3	1	1	1	3	5	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chrX:27839520G>T	ENST00000356790.2	+	3	342	c.97G>T	c.(97-99)Gaa>Taa	p.E33*		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	33										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GGACATTTTAGAAGAGGAGGA	0.517																																																	0													55	53	54					X																	27839520		2202	4300	6502	SO:0001587	stop_gained	0				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.97G>T	X.37:g.27839520G>T	ENSP00000368304:p.Glu33*		Q494Y6|Q494Y7|Q9BZ78	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E33*	ENST00000356790.2	37	c.97	CCDS35221.1	X	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658338	0.47467	.	.	ENSG00000177689	ENST00000356790	.	.	.	1.94	0.845	0.18950	.	1.353090	0.05243	U	0.512536	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.9256	0.13892	0.0:0.0:0.5354:0.4646	.	.	.	.	X	33	.	ENSP00000368304:E33X	E	+	1	0	MAGEB10	27749441	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.249000	0.08842	0.151000	0.19162	0.422000	0.28245	GAA	MAGEB10	-	pfam_Melanoma_ass_antigen_N	ENSG00000177689		0.517	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	-	0	47	0	G	NM_182506		27839520	1	tier1	-	no_errors	ENST00000356790	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	0.000	T	T	27839520	G	T	27839520	4	4	144	1	0	0	0	0	0	1	0	0	9211	943	33	3	99	3	MAGEB10	23	27839520	Nonsense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	21770019	27839520	127431040	373	36776											
ZNF81	347344	genome.wustl.edu	37	chrX	47775683	47775683	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcaataaacaccagacCattcacactggagagaaacc	18	7	5	11	0	2	2	2	0	0	2	2	4	2	3	3	1	2	0	3	1	5	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chrX:47775683C>A	ENST00000376954.1	+	6	2006	c.1638C>A	c.(1636-1638)acC>acA	p.T546T	ZNF81_ENST00000338637.7_Silent_p.T546T			P51508	ZNF81_HUMAN	zinc finger protein 81	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AACACCAGACCATTCACACTG	0.423																																																	0													61	60	60					X																	47775683		2152	4264	6416	SO:0001819	synonymous_variant	0			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.1638C>A	X.37:g.47775683C>A			Q6RX22|Q96QH6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T546	ENST00000376954.1	37	c.1638	CCDS43933.1	X																																																																																			ZNF81	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197779		0.423	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	-	0	18	0	C	NM_007137		47775683	1	tier1	-	no_errors	ENST00000338637	ensembl	human	known	74_37	silent	100.00	0	18	SNP	0.987	A	A	47775683	C	A	47775683	2	1	144	1	0	0	0	0	0	0	0	1	18222	581	21	3		3	ZNF81	23	47775683	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	19936163	47775683	107494877	374	36777											
BMP15	9210	genome.wustl.edu	37	chrX	50659505	50659505	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccggccctcctgtgtcccGtataagtatgttccaattag	7	12	8	14	2	0	0	0	0	0	0	3	0	3	0	6	1	0	3	6	1	5	5	rs147148606	byFrequency	TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chrX:50659505G>A	ENST00000252677.3	+	2	1077	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	359					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)					CCTGTGTCCCGTATAAGTATG	0.458																																																	0								G		1,3834		0,1,1631,571	89	81	84		1077	2	1	X	dbSNP_134	84	1,6726		0,1,2427,1871	no	coding-synonymous	BMP15	NM_005448.2		0,2,4058,2442	AA,AG,GG,G		0.0149,0.0261,0.0189		359/393	50659505	2,10560	2203	4299	6502	SO:0001819	synonymous_variant	0			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.1077G>A	X.37:g.50659505G>A			Q17RM6|Q5JST1|Q9UMS1	Silent	SNP	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.P359	ENST00000252677.3	37	c.1077	CCDS14334.1	X																																																																																			BMP15	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000130385		0.458	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	HGNC	protein_coding	OTTHUMT00000056572.1	-	0	24	0	G	NM_005448		50659505	1	tier1	rs147148606	no_errors	ENST00000252677	ensembl	human	known	74_37	silent	20.59	27	7	SNP	0.959	A	A	50659505	G	A	50659505	2	1	144	1	0	0	0	0	0	0	0	1	1460	1132	40	1		1	BMP15	23	50659505	Silent	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	2883822	50659505	104611055	375	36778											
HUWE1	10075	genome.wustl.edu	37	chrX	53600757	53600757	+	Missense_Mutation	SNP	T	T	A	0	1	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	agtgtagctgtagttggcaaTcagggtagcaataccaacat	13	10	11	7	0	1	0	1	0	0	0	1	0	1	0	1	2	4	7	1	2	7	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chrX:53600757T>A	ENST00000342160.3	-	46	6722	c.6265A>T	c.(6265-6267)Att>Ttt	p.I2089F	HUWE1_ENST00000262854.6_Missense_Mutation_p.I2089F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2089					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						TAGTTGGCAATCAGGGTAGCA	0.443																																																	0													206	153	171					X																	53600757		2203	4300	6503	SO:0001583	missense	0			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.6265A>T	X.37:g.53600757T>A	ENSP00000340648:p.Ile2089Phe		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.I2089F	ENST00000342160.3	37	c.6265	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.080728|4.080728	0.76528|0.76528	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.50548	.|0.74;0.74	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59756|0.59756	0.2217|0.2217	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|P;D	.|0.69078	.|0.932;0.997	.|P;D	.|0.78314	.|0.888;0.991	T|T	0.54918|0.54918	-0.8221|-0.8221	5|10	.|0.20046	.|T	.|0.44	.|.	14.1263|14.1263	0.65222|0.65222	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2089;2089	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	V|F	1122|2089	.|ENSP00000340648:I2089F;ENSP00000262854:I2089F	.|ENSP00000262854:I2089F	D|I	-|-	2|1	0|0	HUWE1|HUWE1	53617482|53617482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.639000|7.639000	0.83342|0.83342	1.981000|1.981000	0.57761|0.57761	0.441000|0.441000	0.28932|0.28932	GAT|ATT	HUWE1	-	NULL	ENSG00000086758		0.443	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	64	0	T	XM_497119		53600757	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	37.70	38	23	SNP	1.000	A	A	53600757	T	A	53600757	3	1	144	1	0	0	0	0	1	0	0	0	7488	1435	50	5	7011	5	HUWE1	23	53600757	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	2941252	53600757	101669803	376	36779											
AR	367	genome.wustl.edu	37	chrX	66766359	66766359	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ggtggtggtgggggtggtggCggcggcggcggcggcggcgg	0	5	29	7	7	0	0	0	0	0	0	0	0	0	0	0	14	0	0	0	14	0	0			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chrX:66766359C>T	ENST00000374690.3	+	1	1895	c.1371C>T	c.(1369-1371)ggC>ggT	p.G457G	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.G457G|AR_ENST00000504326.1_Silent_p.G457G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	455	Modulating.|Poly-Gly.				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)	ggggtggtggcggcggcggcg	0.746									Androgen Insensitivity Syndrome																																								0													1	1	1					X																	66766359		738	1695	2433	SO:0001819	synonymous_variant	0	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.1371C>T	X.37:g.66766359C>T			A2RUN2|B1AKD7|Q9UD95	Silent	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.G457	ENST00000374690.3	37	c.1371	CCDS14387.1	X																																																																																			AR	-	NULL	ENSG00000169083		0.746	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	-	0	26	0	C	NM_000044		66766359	1	tier1	-	no_errors	ENST00000374690	ensembl	human	known	74_37	silent	100.00	0	6	SNP	0.062	T	T	66766359	C	T	66766359	2	4	144	1	0	0	0	0	0	0	0	1	836	755	27	1		1	AR	23	66766359	Silent	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	13165602	66766359	88504201	377	36780											
ZMYM3	9203	genome.wustl.edu	37	chrX	70473041	70473041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatgtctactggtaggtctCcagccaggggcttctctggc	5	11	12	13	0	3	0	0	0	3	0	5	0	3	0	3	5	2	2	3	5	2	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chrX:70473041C>A	ENST00000353904.2	-	2	252	c.65G>T	c.(64-66)gGa>gTa	p.G22V	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.G22V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.G22V|ZMYM3_ENST00000373984.3_Missense_Mutation_p.G22V|ZMYM3_ENST00000314425.5_Missense_Mutation_p.G22V|ZMYM3_ENST00000373978.1_Missense_Mutation_p.G22V|ZMYM3_ENST00000373998.1_Missense_Mutation_p.G22V|ZMYM3_ENST00000373981.1_Missense_Mutation_p.G22V	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	22					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)					TGGTAGGTCTCCAGCCAGGGG	0.557											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													23	25	24					X																	70473041		2023	4166	6189	SO:0001583	missense	0			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.65G>T	X.37:g.70473041C>A	ENSP00000343909:p.Gly22Val	1122	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.G22V	ENST00000353904.2	37	c.65	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	c	17.01	3.279612	0.59758	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	4.64	4.64	0.57946	.	0.000000	0.48767	D	0.000165	T	0.40862	0.1134	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.996;0.998;0.994	T	0.43228	-0.9404	10	0.62326	D	0.03	-5.4295	15.0413	0.71793	0.0:1.0:0.0:0.0	.	22;22;22	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	V	22	ENSP00000322845:G22V;ENSP00000363110:G22V;ENSP00000343909:G22V;ENSP00000363096:G22V;ENSP00000363100:G22V;ENSP00000363094:G22V;ENSP00000363093:G22V;ENSP00000363090:G22V	ENSP00000322845:G22V	G	-	2	0	ZMYM3	70389766	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.044000	0.49830	1.898000	0.54952	0.287000	0.19450	GGA	ZMYM3	-	NULL	ENSG00000147130		0.557	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	-	0	70	0	C	NM_201599		70473041	-1	tier1	-	no_errors	ENST00000373988	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	A	A	70473041	C	A	70473041	3	1	144	1	0	0	0	0	1	0	0	0	17749	855	30	3	4161	3	ZMYM3	23	70473041	Missense_Mutation	SNP	C	TCGA-R6-A6XG-01B-11D-A33E-09	3706682	70473041	84797519	378	36781											
KIAA2022	340533	genome.wustl.edu	37	chrX	73962149	73962149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggattggttttccaagagaGggctcatttgaacaattggc	11	12	12	6	0	1	2	1	1	0	1	2	4	2	3	1	4	1	2	1	4	3	5			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chrX:73962149G>T	ENST00000055682.6	-	3	2854	c.2243C>A	c.(2242-2244)cCt>cAt	p.P748H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	748					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTCCAAGAGAGGGCTCATTTG	0.373																																																	0													72	71	71					X																	73962149		2203	4300	6503	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2243C>A	X.37:g.73962149G>T	ENSP00000055682:p.Pro748His		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.P748H	ENST00000055682.6	37	c.2243	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312572	0.40895	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.33654	1.4;1.4	5.73	5.73	0.89815	.	0.489617	0.24031	N	0.042190	T	0.38081	0.1027	L	0.47716	1.5	0.39940	D	0.974398	B	0.17667	0.023	B	0.18561	0.022	T	0.21518	-1.0243	10	0.72032	D	0.01	-4.4293	18.9182	0.92515	0.0:0.0:1.0:0.0	.	748	Q5QGS0	K2022_HUMAN	H	748	ENSP00000362567:P748H;ENSP00000055682:P748H	ENSP00000055682:P748H	P	-	2	0	KIAA2022	73878874	1.000000	0.71417	0.997000	0.53966	0.535000	0.34838	3.619000	0.54196	2.415000	0.81967	0.600000	0.82982	CCT	KIAA2022	-	NULL	ENSG00000050030		0.373	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2		0	37	0	G	NM_001008537		73962149	-1			no_errors	ENST00000055682	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	73962149	G	T	73962149	3	4	144	1	0	0	0	0	1	0	0	0	8296	1000	35	3	2315	3	KIAA2022	23	73962149	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	3489108	73962149	81308411	379	36782											
CHM	1121	genome.wustl.edu	37	chrX	85212893	85212893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatatttctcatattccaTacaaaatgtaagaaatttca	17	14	4	6	0	2	1	2	0	1	1	4	2	3	2	1	1	1	1	1	1	7	7			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chrX:85212893T>C	ENST00000357749.2	-	7	936	c.907A>G	c.(907-909)Atg>Gtg	p.M303V	CHM_ENST00000537751.1_Missense_Mutation_p.M155V|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	303					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCATATTCCATACAAAATGTA	0.294																																																	0													46	45	46					X																	85212893		2201	4287	6488	SO:0001583	missense	0			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.907A>G	X.37:g.85212893T>C	ENSP00000350386:p.Met303Val		A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.M303V	ENST00000357749.2	37	c.907	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	T	1.800	-0.477246	0.04414	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.85339	-1.97;-1.97	4.36	-0.658	0.11428	.	0.483736	0.25506	N	0.030201	T	0.55449	0.1921	N	0.02802	-0.49	0.23304	N	0.997941	B	0.02656	0.0	B	0.06405	0.002	T	0.44143	-0.9347	10	0.13470	T	0.59	-2.7113	0.8684	0.01209	0.23:0.1092:0.235:0.4258	.	303	P24386	RAE1_HUMAN	V	303;155	ENSP00000350386:M303V;ENSP00000441728:M155V	ENSP00000350386:M303V	M	-	1	0	CHM	85099549	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	0.533000	0.23082	0.056000	0.16144	0.339000	0.21740	ATG	CHM	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	ENSG00000188419		0.294	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	-	0	48	0	T	NM_000390		85212893	-1	tier1	-	no_errors	ENST00000357749	ensembl	human	known	74_37	missense	82.50	7	33	SNP	0.991	C	C	85212893	T	C	85212893	3	2	144	1	0	0	0	0	1	0	0	0	3357	1406	49	4	1090	4	CHM	23	85212893	Missense_Mutation	SNP	T	TCGA-R6-A6XG-01B-11D-A33E-09	11250744	85212893	70057667	380	36783											
BTK	695	genome.wustl.edu	37	chrX	100611043	100611043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttctaaggtcccaccagGtctcggtgaaggaactgctt	8	11	10	12	1	2	1	0	1	2	0	5	2	4	2	3	4	2	1	3	4	3	3			TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chrX:100611043G>T	ENST00000308731.7	-	15	1726	c.1563C>A	c.(1561-1563)gaC>gaA	p.D521E	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	521	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> G (in XLA). {ECO:0000269|PubMed:9445504}.|D -> H (in XLA; severe). {ECO:0000269|PubMed:8695804}.|D -> N (in XLA; severe).		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTCCCACCAGGTCTCGGTGAA	0.537									Agammaglobulinemia, X-linked																																								0													138	117	124					X																	100611043		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1563C>A	X.37:g.100611043G>T	ENSP00000308176:p.Asp521Glu		B2RAW1|Q32ML5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.D521E	ENST00000308731.7	37	c.1563	CCDS14482.1	X	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470102	0.63625	.	.	ENSG00000010671	ENST00000372855;ENST00000443591;ENST00000308731	D	0.96334	-3.98	5.49	1.18	0.20946	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	0.98874	0.9619	H	0.99609	4.655	0.80722	D	1	D;D;D;D	0.89917	0.994;0.999;1.0;0.999	D;D;D;D	0.97110	0.967;0.995;1.0;0.997	D	0.97740	1.0208	10	0.87932	D	0	.	10.956	0.47358	0.3235:0.0:0.6765:0.0	.	192;192;521;521	Q3MS94;Q3MS96;B2RAW1;Q06187	.;.;.;BTK_HUMAN	E	70;192;521	ENSP00000308176:D521E	ENSP00000308176:D521E	D	-	3	2	BTK	100497699	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.492000	0.53259	0.156000	0.19299	-0.191000	0.12829	GAC	BTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000010671		0.537	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	HGNC	protein_coding	OTTHUMT00000057532.2		0	44	0	G	NM_000061		100611043	-1			no_errors	ENST00000308731	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	T	T	100611043	G	T	100611043	3	4	144	1	0	0	0	0	1	0	0	0	1561	1252	44	3	436	3	BTK	23	100611043	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	15398150	100611043	54659517	381	36784											
NDUFA1	4694	genome.wustl.edu	37	chrX	119005968	119005968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatccacaggttcactaacGggggcaaggtaagccggctt	11	7	12	11	2	1	0	1	0	0	0	2	0	2	0	2	5	2	4	2	5	3	4	rs1801316	byFrequency	TCGA-R6-A6XG-01B-11D-A33E-09	TCGA-R6-A6XG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	766dcd2a-8fce-43da-826c-7d1b73bedbce	26e187fb-b287-4cd8-80ec-215cae9d6379	g.chrX:119005968G>T	ENST00000371437.4	+	1	519	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	32			G -> R (in dbSNP:rs1801316).		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 membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.G32R(1)		endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						GTTCACTAACGGGGGCAAGGT	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											106	92	96					X																	119005968		2203	4300	6503	SO:0001583	missense	0				CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"Mitochondrial respiratory chain complex / Complex I"	7683	protein-coding gene	gene with protein product	"NADH:ubiquinone oxidoreductase (complex 1)", "type I dehydrogenase", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)", "complex I MWFE subunit"	300078	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.94G>T	X.37:g.119005968G>T	ENSP00000360492:p.Gly32Trp			Missense_Mutation	SNP	pirsf_NADH_Ub_cplx-1_asu_su-1	p.G32W	ENST00000371437.4	37	c.94	CCDS14590.1	X	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590818	0.46214	.	.	ENSG00000125356	ENST00000371437	T	0.78126	-1.15	5.55	3.79	0.43588	.	0.098623	0.64402	D	0.000001	D	0.86326	0.5906	.	.	.	0.52501	D	0.999953	D	0.89917	1.0	D	0.83275	0.996	D	0.85251	0.1044	9	0.87932	D	0	-14.0394	8.269	0.31833	0.1835:0.0:0.8165:0.0	.	32	O15239	NDUA1_HUMAN	W	32	ENSP00000360492:G32W	ENSP00000360492:G32W	G	+	1	0	NDUFA1	118889996	1.000000	0.71417	0.831000	0.32960	0.084000	0.17831	3.706000	0.54830	0.536000	0.28733	0.600000	0.82982	GGG	NDUFA1	-	pirsf_NADH_Ub_cplx-1_asu_su-1	ENSG00000125356		0.617	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA1	HGNC	protein_coding	OTTHUMT00000058080.1	-	0	61	0	G	NM_004541		119005968	1	tier1	-	no_errors	ENST00000371437	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.907	T	T	119005968	G	T	119005968	3	4	144	1	0	0	0	0	1	0	0	0	10298	1116	39	2	96	2	NDUFA1	23	119005968	Missense_Mutation	SNP	G	TCGA-R6-A6XG-01B-11D-A33E-09	18394925	119005968	36264592	382	36785											
CASZ1	54897	genome.wustl.edu	37	chr1	10709147	10709147	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcgtgcttgatggccccGtccaaggtgctgaagagcgc	6	10	14	11	3	0	3	0	2	0	1	1	3	1	3	3	2	4	2	3	2	2	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:10709147G>A	ENST00000377022.3	-	15	3455	c.3138C>T	c.(3136-3138)gaC>gaT	p.D1046D	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.D1046D	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1046					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)	p.D1046_I1049>V(1)		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)		TGATGGCCCCGTCCAAGGTGC	0.627																																																	1	Complex - deletion inframe(1)	prostate(1)											43	41	42					1																	10709147		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3138C>T	1.37:g.10709147G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1046	ENST00000377022.3	37	c.3138	CCDS41246.1	1																																																																																			CASZ1	-	smart_Znf_C2H2-like	ENSG00000130940		0.627	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0	111	0	G	NM_017766		10709147	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	silent	15.91	74	14	SNP	1.000	A	A	10709147	G	A	10709147	2	1	145	1	0	0	0	0	0	0	0	1	2692	1136	40	1		1	CASZ1	1	10709147	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		10709147	238541474	1	36786											
PLA2G2F	64600	genome.wustl.edu	37	chr1	20474883	20474883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaatccccagcgccccccGcccctccctagagcctctga	7	5	6	23	2	1	2	0	1	1	1	3	2	3	2	10	0	2	0	10	0	2	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:20474883G>A	ENST00000375102.3	+	5	727	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	166					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|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 metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AGCGCCCCCCGCCCCTCCCTA	0.652																																																	0																																										SO:0001583	missense	0			AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.625G>A	1.37:g.20474883G>A	ENSP00000364243:p.Ala209Thr		Q5R385|Q8N217|Q9H506	Missense_Mutation	SNP	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.A209T	ENST00000375102.3	37	c.625	CCDS204.2	1	.	.	.	.	.	.	.	.	.	.	G	8.756	0.922337	0.17982	.	.	ENSG00000158786	ENST00000375102	T	0.27256	1.68	4.91	-1.35	0.09114	.	1.436000	0.04830	N	0.438544	T	0.10121	0.0248	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24225	-1.0166	10	0.23302	T	0.38	-1.3404	2.3058	0.04173	0.2279:0.1479:0.4885:0.1357	.	209	Q9BZM2-2	.	T	209	ENSP00000364243:A209T	ENSP00000364243:A209T	A	+	1	0	PLA2G2F	20347470	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.316000	0.02710	0.034000	0.15491	-1.320000	0.01293	GCC	PLA2G2F	-	NULL	ENSG00000158786		0.652	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2F	HGNC	protein_coding	OTTHUMT00000007687.1	-	0	48	0	G	NM_022819		20474883	1	tier1	-	no_errors	ENST00000375102	ensembl	human	known	74_37	missense	31.82	29	14	SNP	0.000	A	A	20474883	G	A	20474883	3	1	145	1	0	0	0	0	1	0	0	0	12038	1087	38	1	643	1	PLA2G2F	1	20474883	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	9765736	20474883	228775738	2	36787											
EPHB2	2048	genome.wustl.edu	37	chr1	23110900	23110900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgggaagaggtgagtGgctacgatgagaacatgaac	14	6	15	6	1	0	4	0	3	0	2	0	7	0	5	0	3	3	1	0	3	4	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:23110900G>T	ENST00000400191.3	+	3	160	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	EPHB2_ENST00000544305.1_Missense_Mutation_p.G48C|EPHB2_ENST00000374632.3_Missense_Mutation_p.G48C|EPHB2_ENST00000374630.3_Missense_Mutation_p.G48C|EPHB2_ENST00000374627.1_Missense_Mutation_p.G42C	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	48	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGAGGTGAGTGGCTACGATGA	0.552																																																	0													95	80	85					1																	23110900		2203	4300	6503	SO:0001583	missense	0			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.142G>T	1.37:g.23110900G>T	ENSP00000383053:p.Gly48Cys		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G48C	ENST00000400191.3	37	c.142		1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169485	0.78452	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.19	5.19	0.71726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.996	T	0.45293	-0.9271	10	0.72032	D	0.01	.	17.4346	0.87548	0.0:0.0:1.0:0.0	.	48;48;66;48	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	C	48;48;48;48;48;42	ENSP00000444174:G48C;ENSP00000363761:G48C;ENSP00000383053:G48C;ENSP00000363763:G48C;ENSP00000363758:G42C	ENSP00000363755:G48C	G	+	1	0	EPHB2	22983487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.578000	0.98200	2.704000	0.92352	0.484000	0.47621	GGC	EPHB2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000133216		0.552	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2		0	42	0	G	NM_017449		23110900	1			no_errors	ENST00000400191	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	23110900	G	T	23110900	3	4	145	1	0	0	0	0	1	0	0	0	5191	1348	47	3	152	3	EPHB2	1	23110900	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	2636017	23110900	226139721	3	36788											
TMEM50A	23585	genome.wustl.edu	37	chr1	25669536	25669536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accactcataccatgcctgtGgtgttatagcaaccatagcc	11	10	7	13	0	1	0	1	0	0	0	1	0	1	0	5	1	5	2	5	1	5	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:25669536G>T	ENST00000374358.4	+	3	731	c.178G>T	c.(178-180)Ggt>Tgt	p.G60C	RNU6-1171P_ENST00000516706.1_RNA|TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	60						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		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;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		CCATGCCTGTGGTGTTATAGC	0.358																																																	0													152	137	142					1																	25669536		2203	4300	6503	SO:0001583	missense	0			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"small membrane protein 1"	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.178G>T	1.37:g.25669536G>T	ENSP00000363478:p.Gly60Cys			Missense_Mutation	SNP	pfam_UPF0220	p.G60C	ENST00000374358.4	37	c.178	CCDS264.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848267	0.91277	.	.	ENSG00000183726	ENST00000374358	T	0.34275	1.37	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75099	-0.3437	10	0.72032	D	0.01	.	18.2472	0.89991	0.0:0.0:1.0:0.0	.	60;60	B7Z5M7;O95807	.;TM50A_HUMAN	C	60	ENSP00000363478:G60C	ENSP00000363478:G60C	G	+	1	0	TMEM50A	25542123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.745000	0.91600	2.641000	0.89580	0.563000	0.77884	GGT	TMEM50A	-	pfam_UPF0220	ENSG00000183726		0.358	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM50A	HGNC	protein_coding	OTTHUMT00000020313.1	-	0	75	0	G			25669536	1	tier1	-	no_errors	ENST00000374358	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	25669536	G	T	25669536	3	4	145	1	0	0	0	0	1	0	0	0	16222	1348	47	3	184	3	TMEM50A	1	25669536	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	2558636	25669536	223581085	4	36789											
TRIM63	84676	genome.wustl.edu	37	chr1	26387815	26387815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggggtgactgcccttctGcagcggccgactgcagtgga	6	8	15	12	2	1	1	0	1	1	0	1	3	1	2	2	4	4	2	2	4	0	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:26387815G>T	ENST00000374272.3	-	3	481	c.343C>A	c.(343-345)Cag>Aag	p.Q115K	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	115	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q115K(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)		CTGCCCTTCTGCAGCGGCCGA	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)											101	77	85					1																	26387815		2203	4300	6503	SO:0001583	missense	0			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.343C>A	1.37:g.26387815G>T	ENSP00000363390:p.Gln115Lys		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q115K	ENST00000374272.3	37	c.343	CCDS273.1	1	.	.	.	.	.	.	.	.	.	.	G	4.470	0.087078	0.08583	.	.	ENSG00000158022	ENST00000374272	T	0.40225	1.04	5.33	4.41	0.53225	Zinc finger, RING/FYVE/PHD-type (1);	0.094270	0.64402	N	0.000001	T	0.12561	0.0305	N	0.00707	-1.245	0.29996	N	0.81642	B	0.02656	0.0	B	0.04013	0.001	T	0.17837	-1.0356	10	0.02654	T	1	.	12.6674	0.56849	0.0:0.0:0.5587:0.4413	.	115	Q969Q1	TRI63_HUMAN	K	115	ENSP00000363390:Q115K	ENSP00000363390:Q115K	Q	-	1	0	TRIM63	26260402	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.033000	0.49743	1.370000	0.46153	0.591000	0.81541	CAG	TRIM63	-	NULL	ENSG00000158022		0.577	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM63	HGNC	protein_coding	OTTHUMT00000019750.1		0	43	0	G	NM_032588		26387815	-1			no_errors	ENST00000374272	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	26387815	G	T	26387815	3	4	145	1	0	0	0	0	1	0	0	0	16586	1328	46	3	746	3	TRIM63	1	26387815	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	718279	26387815	222862806	5	36790											
MACF1	23499	genome.wustl.edu	37	chr1	39715766	39715766	+	Silent	SNP	C	C	A	0	0	0	1	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	ctgttggaggtcctctcaggCatcaaactggtgagcttctc	7	12	11	11	0	3	1	2	1	2	0	6	2	4	2	1	4	2	3	1	4	1	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:39715766C>A	ENST00000372915.3	+	3	450	c.363C>A	c.(361-363)ggC>ggA	p.G121G	MACF1_ENST00000317713.7_Silent_p.G121G|RP11-420K8.1_ENST00000289890.7_RNA|MACF1_ENST00000545844.1_Silent_p.G121G|MACF1_ENST00000564288.1_Silent_p.G84G|MACF1_ENST00000567887.1_Silent_p.G121G|MACF1_ENST00000539005.1_Silent_p.G121G|MACF1_ENST00000536367.1_Silent_p.G84G|MACF1_ENST00000361689.2_Silent_p.G121G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	121	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			TCCTCTCAGGCATCAAACTGG	0.478																																																	0													187	168	174					1																	39715766		2203	4300	6503	SO:0001819	synonymous_variant	0			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.363C>A	1.37:g.39715766C>A			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.G121	ENST00000372915.3	37	c.363		1																																																																																			MACF1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000127603		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	57	0	C	NM_033044		39715766	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	silent	10.00	27	3	SNP	0.998	A	A	39715766	C	A	39715766	2	1	145	1	0	0	0	0	0	0	0	1	9180	697	25	3		3	MACF1	1	39715766	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	13327951	39715766	209534855	6	36791											
LEPRE1	64175	genome.wustl.edu	37	chr1	43228043	43228043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcggcctccttcactccaGacatggtttggtaatagtct	8	13	9	11	1	2	1	1	0	1	1	5	1	4	1	3	3	0	2	3	3	2	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:43228043G>T	ENST00000296388.5	-	2	620	c.569C>A	c.(568-570)tCt>tAt	p.S190Y	LEPRE1_ENST00000397054.3_Missense_Mutation_p.S190Y|LEPRE1_ENST00000236040.4_Missense_Mutation_p.S190Y			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	190					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)	CTTCACTCCAGACATGGTTTG	0.418																																																	0													170	161	164					1																	43228043		2203	4300	6503	SO:0001583	missense	0			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.569C>A	1.37:g.43228043G>T	ENSP00000296388:p.Ser190Tyr		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.S190Y	ENST00000296388.5	37	c.569	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221675	0.79464	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.27557	1.66;1.66;1.66	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);	0.102943	0.64402	D	0.000003	T	0.47303	0.1438	L	0.58810	1.83	0.33929	D	0.641765	D;D;P;D	0.67145	0.996;0.991;0.925;0.958	P;P;P;P	0.60473	0.875;0.875;0.541;0.635	T	0.61153	-0.7120	10	0.72032	D	0.01	-18.8347	12.5369	0.56145	0.0:0.0:0.8336:0.1664	.	190;190;55;190	Q32P28-2;Q32P28-3;B4DNM8;Q32P28	.;.;.;P3H1_HUMAN	Y	190;190;190;55	ENSP00000380245:S190Y;ENSP00000236040:S190Y;ENSP00000296388:S190Y	ENSP00000236040:S190Y	S	-	2	0	LEPRE1	43000630	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.437000	0.59955	2.756000	0.94617	0.563000	0.77884	TCT	LEPRE1	-	NULL	ENSG00000117385		0.418	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	-	0	60	0	G	NM_022356		43228043	-1	tier1	-	no_errors	ENST00000236040	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.997	T	T	43228043	G	T	43228043	3	4	145	1	0	0	0	0	1	0	0	0	8757	942	33	3	1716	3	LEPRE1	1	43228043	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3512277	43228043	206022578	7	36792											
POMGNT1	55624	genome.wustl.edu	37	chr1	46662690	46662690	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggcttcactgatggctcGccgagtgtccaggatcaact	8	11	11	11	2	2	1	2	1	0	0	4	3	3	2	2	3	1	2	2	3	1	2	rs193919337		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:46662690G>A	ENST00000371984.3	-	3	344	c.187C>T	c.(187-189)Cga>Tga	p.R63*	POMGNT1_ENST00000371992.1_Nonsense_Mutation_p.R63*|POMGNT1_ENST00000396420.3_Nonsense_Mutation_p.R63*|POMGNT1_ENST00000535522.1_Nonsense_Mutation_p.R41*|POMGNT1_ENST00000371986.3_Nonsense_Mutation_p.R63*	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	63					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CTGATGGCTCGCCGAGTGTCC	0.547																																																	0			GRCh37	CM030725	POMGNT1	M	rs193919337						178	187	184					1																	46662690		2203	4300	6503	SO:0001587	stop_gained	0				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.187C>T	1.37:g.46662690G>A	ENSP00000361052:p.Arg63*		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Nonsense_Mutation	SNP	pfam_Glyco_trans_13	p.R63*	ENST00000371984.3	37	c.187	CCDS531.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.579120	0.97680	.	.	ENSG00000085998	ENST00000396420;ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	.	.	.	4.96	1.81	0.25067	.	0.229220	0.42964	D	0.000633	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9773	7.4352	0.27152	0.0847:0.0:0.4291:0.4862	.	.	.	.	X	63;63;63;41;63	.	ENSP00000361052:R63X	R	-	1	2	POMGNT1	46435277	0.981000	0.34729	0.438000	0.26821	0.214000	0.24535	1.804000	0.38873	0.441000	0.26529	-0.258000	0.10820	CGA	POMGNT1	-	NULL	ENSG00000085998		0.547	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT1	HGNC	protein_coding	OTTHUMT00000020146.1	-	0	113	0	G	NM_017739		46662690	-1	tier1	rs193919337	no_errors	ENST00000371986	ensembl	human	known	74_37	nonsense	16.84	79	16	SNP	0.535	A	A	46662690	G	A	46662690	4	1	145	1	0	0	0	0	0	1	0	0	12282	1095	38	1	1875	1	POMGNT1	1	46662690	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3434647	46662690	202587931	8	36793											
C1orf123	54987	genome.wustl.edu	37	chr1	53682462	53682462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacacacacacctgcggctGgaaatcaactggttcaaggc	13	7	9	12	1	2	0	2	0	0	0	2	1	2	1	1	4	3	2	1	4	4	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:53682462G>T	ENST00000294360.4	-	6	372	c.331C>A	c.(331-333)Cag>Aag	p.Q111K	C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	111						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						ACCTGCGGCTGGAAATCAACT	0.498																																																	0													118	115	116					1																	53682462		2203	4300	6503	SO:0001583	missense	0			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.331C>A	1.37:g.53682462G>T	ENSP00000294360:p.Gln111Lys			Missense_Mutation	SNP	pfam_DUF866_euk	p.Q111K	ENST00000294360.4	37	c.331	CCDS576.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363756	0.82353	.	.	ENSG00000162384	ENST00000294360;ENST00000371480	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	L	0.31294	0.92	0.80722	D	1	P;P	0.45283	0.729;0.855	P;P	0.46825	0.528;0.456	T	0.59857	-0.7375	9	0.62326	D	0.03	-21.6846	19.843	0.96697	0.0:0.0:1.0:0.0	.	81;111	D3DQ38;Q9NWV4	.;CA123_HUMAN	K	111;92	.	ENSP00000294360:Q111K	Q	-	1	0	C1orf123	53455050	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.977000	0.93446	2.679000	0.91253	0.655000	0.94253	CAG	C1orf123	-	pfam_DUF866_euk	ENSG00000162384		0.498	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf123	HGNC	protein_coding	OTTHUMT00000024751.1	-	0	115	0	G	NM_017887		53682462	-1	tier1	-	no_errors	ENST00000294360	ensembl	human	known	74_37	missense	5.15	92	5	SNP	1.000	T	T	53682462	G	T	53682462	3	4	145	1	0	0	0	0	1	0	0	0	1998	1357	47	3	163	3	C1orf123	1	53682462	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	7019772	53682462	195568159	9	36794											
C8A	731	genome.wustl.edu	37	chr1	57378299	57378299	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagcaaacacagacagaagGtaaggtccgtgcatccccac	14	5	10	12	1	0	3	0	1	0	2	2	3	2	3	3	2	3	3	3	2	3	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:57378299G>T	ENST00000361249.3	+	10	1699		c.e10+1			NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide						complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CAGACAGAAGGTAAGGTCCGT	0.602																																																	0													54	56	55					1																	57378299		2203	4300	6503	SO:0001630	splice_region_variant	0			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1603+1G>T	1.37:g.57378299G>T			A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP	-	e10+1	ENST00000361249.3	37	c.1603+1	CCDS606.1	1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200231	0.38905	.	.	ENSG00000157131	ENST00000361249	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0789	0.89436	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C8A	57150887	1.000000	0.71417	0.791000	0.31998	0.161000	0.22273	7.055000	0.76656	2.713000	0.92767	0.655000	0.94253	.	C8A	-	-	ENSG00000157131		0.602	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8A	HGNC	protein_coding	OTTHUMT00000022890.1	-	0	47	0	G	NM_000562	Intron	57378299	1	tier1	-	no_errors	ENST00000361249	ensembl	human	known	74_37	splice_site	12.20	36	5	SNP	1.000	T	T	57378299	G	T	57378299	5	4	145	1	0	0	0	0	0	0	1	0	2423	1275	44	3	1642	3	C8A	1	57378299	Splice_Site	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3695837	57378299	191872322	10	36795											
RAVER2	55225	genome.wustl.edu	37	chr1	65268729	65268729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcatttttacatttGaataaagcacatcaggtaca	13	14	5	9	0	2	1	1	1	1	0	3	1	2	1	1	1	4	3	1	1	5	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:65268729G>T	ENST00000294428.3	+	6	1254	c.1176G>T	c.(1174-1176)ttG>ttT	p.L392F	RAVER2_ENST00000371072.4_Missense_Mutation_p.L392F|RAVER2_ENST00000430964.2_Missense_Mutation_p.L98F			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	392						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L392F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTTTACATTTGAATAAAGCAC	0.323																																																	1	Substitution - Missense(1)	breast(1)											104	99	100					1																	65268729		1848	4103	5951	SO:0001583	missense	0			AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"RNA binding motif (RRM) containing"	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1176G>T	1.37:g.65268729G>T	ENSP00000294428:p.Leu392Phe		Q6P141|Q9NPV7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L392F	ENST00000294428.3	37	c.1176		1	.	.	.	.	.	.	.	.	.	.	G	7.347	0.622122	0.14193	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.47528	0.9;0.84	5.67	2.72	0.32119	.	0.279835	0.34200	N	0.004172	T	0.17109	0.0411	L	0.31752	0.955	0.38976	D	0.958851	B;B	0.24368	0.061;0.102	B;B	0.27380	0.036;0.079	T	0.03910	-1.0993	10	0.29301	T	0.29	-15.093	9.3352	0.38045	0.0746:0.2834:0.642:0.0	.	392;392	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	F	392;392;98	ENSP00000360112:L392F;ENSP00000294428:L392F	ENSP00000294428:L392F	L	+	3	2	RAVER2	65041317	1.000000	0.71417	0.804000	0.32291	0.003000	0.03518	3.148000	0.50647	0.303000	0.22785	-0.179000	0.13096	TTG	RAVER2	-	NULL	ENSG00000162437		0.323	RAVER2-201	KNOWN	basic	protein_coding	RAVER2	HGNC	protein_coding			0	55	0	G	NM_018211		65268729	1			no_errors	ENST00000294428	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.994	T	T	65268729	G	T	65268729	3	4	145	1	0	0	0	0	1	0	0	0	13140	1281	45	3	1198	3	RAVER2	1	65268729	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	7890430	65268729	183981892	11	36796											
GSTM3	2947	genome.wustl.edu	37	chr1	110280279	110280279	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttttcccttcttcctaccTtttccccggcaaaccatgag	6	15	4	16	1	2	1	0	1	2	0	5	1	5	1	6	1	2	1	6	1	2	7	rs59389091		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:110280279T>C	ENST00000540225.1	-	7	777	c.467A>G	c.(466-468)aAg>aGg	p.K156R	RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000256594.3_Splice_Site_p.K156R|GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Splice_Site_p.K156R			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	156	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|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)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.K156fs*30(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	TCTTCCTACCTTTTCCCCGGC	0.438																																																	1	Deletion - Frameshift(1)	large_intestine(1)											129	148	141					1																	110280279		2203	4300	6503	SO:0001630	splice_region_variant	0			BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"Glutathione S-transferases / Soluble"	4635	protein-coding gene	gene with protein product		138390	"glutathione S-transferase M3 (brain)"			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.468+1A>G	1.37:g.110280279T>C			O60550|Q96HA3	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu	p.K156R	ENST00000540225.1	37	c.467	CCDS812.1	1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635916	0.67130	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.03801	3.8;3.8;3.8	5.53	5.53	0.82687	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.07548	0.0190	M	0.83603	2.65	0.58432	D	0.999999	B;B;B	0.31625	0.105;0.332;0.105	B;B;B	0.39217	0.026;0.294;0.026	T	0.00525	-1.1689	10	0.72032	D	0.01	-18.6724	14.7863	0.69806	0.0:0.0:0.0:1.0	.	156;162;156	Q6FGJ9;Q59EJ5;P21266	.;.;GSTM3_HUMAN	R	156	ENSP00000444978:K156R;ENSP00000256594:K156R;ENSP00000354357:K156R	ENSP00000256594:K156R	K	-	2	0	GSTM3	110081802	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.191000	0.65110	2.315000	0.78130	0.533000	0.62120	AAG	GSTM3	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,prints_GST_mu	ENSG00000134202		0.438	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM3	HGNC	protein_coding	OTTHUMT00000032182.1		0	14	0	T	NM_000849	Missense_Mutation	110280279	-1			no_errors	ENST00000256594	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	C	C	110280279	T	C	110280279	5	2	145	1	0	0	0	0	0	0	1	0	6866	1623	56	4	222	4	GSTM3	1	110280279	Splice_Site	SNP	T	TCGA-R6-A6XQ-01B-11D-A33E-09	45011550	110280279	138970342	12	36797											
HMGCS2	3158	genome.wustl.edu	37	chr1	120298057	120298057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtactcactgggacaGaagcgaggccaggcacccgt	11	5	13	12	2	1	1	1	0	0	1	1	3	1	2	2	3	3	3	2	3	2	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:120298057G>T	ENST00000369406.3	-	6	1229	c.1180C>A	c.(1180-1182)Ctg>Atg	p.L394M	HMGCS2_ENST00000544913.2_Missense_Mutation_p.L352M|HMGCS2_ENST00000476640.1_5'Flank	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	394					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)	p.L394V(1)		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)		CACTGGGACAGAAGCGAGGCC	0.552																																																	1	Substitution - Missense(1)	lung(1)											275	256	262					1																	120298057		2203	4300	6503	SO:0001583	missense	0			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.1180C>A	1.37:g.120298057G>T	ENSP00000358414:p.Leu394Met		B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.L394M	ENST00000369406.3	37	c.1180	CCDS905.1	1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475762	0.44044	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.83673	-1.75;-1.75	5.26	3.38	0.38709	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.49305	D	0.000151	D	0.88691	0.6505	M	0.91872	3.25	0.28139	N	0.929866	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.83501	0.0075	10	0.72032	D	0.01	-9.6397	9.9644	0.41715	0.1684:0.0:0.8316:0.0	.	352;394	B7Z8R3;P54868	.;HMCS2_HUMAN	M	394;352	ENSP00000358414:L394M;ENSP00000439495:L352M	ENSP00000358414:L394M	L	-	1	2	HMGCS2	120099580	1.000000	0.71417	0.023000	0.16930	0.655000	0.38815	3.118000	0.50414	0.698000	0.31739	0.563000	0.77884	CTG	HMGCS2	-	pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	ENSG00000134240		0.552	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS2	HGNC	protein_coding	OTTHUMT00000033469.2		0	76	0	G	NM_005518		120298057	-1			no_errors	ENST00000369406	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.171	T	T	120298057	G	T	120298057	3	4	145	1	0	0	0	0	1	0	0	0	7260	933	33	3	362	3	HMGCS2	1	120298057	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	10017778	120298057	128952564	13	36798											
HRNR	388697	genome.wustl.edu	37	chr1	152188847	152188847	+	Missense_Mutation	SNP	A	A	G	1	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	cagactcatgttgaccaaagAcagaagagtgacccgagcga	15	5	11	10	2	1	6	1	2	0	4	1	8	1	6	2	0	1	1	2	0	2	1	rs145667921		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:152188847A>G	ENST00000368801.2	-	3	5333	c.5258T>C	c.(5257-5259)gTc>gCc	p.V1753A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1753					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)			TTGACCAAAGACAGAAGAGTG	0.562																																																	0													1	1	1					1																	152188847		388	960	1348	SO:0001583	missense	0			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.5258T>C	1.37:g.152188847A>G	ENSP00000357791:p.Val1753Ala		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.V1753A	ENST00000368801.2	37	c.5258	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191978	0.38707	.	.	ENSG00000197915	ENST00000368801	T	0.01548	4.78	3.15	2.19	0.27852	.	.	.	.	.	T	0.00412	0.0013	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	9	0.07482	T	0.82	.	1.9459	0.03356	0.2121:0.4632:0.2061:0.1186	.	1753	Q86YZ3	HORN_HUMAN	A	1753	ENSP00000357791:V1753A	ENSP00000357791:V1753A	V	-	2	0	HRNR	150455471	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.214000	0.09292	0.170000	0.19704	-0.294000	0.09567	GTC	HRNR	-	NULL	ENSG00000197915		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	49	0	A	XM_373868		152188847	-1	tier1	rs145667921	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.002	G	G	152188847	A	G	152188847	3	3	145	1	0	0	0	0	1	0	0	0	7386	275	10	4	3298	4	HRNR	1	152188847	Missense_Mutation	SNP	A	TCGA-R6-A6XQ-01B-11D-A33E-09	31890790	152188847	97061774	14	36799											
SLC27A3	11000	genome.wustl.edu	37	chr1	153747831	153747831	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtggtgggggcctgggtggGaatgggcgtgtgccagcgca	5	7	22	7	2	0	0	0	0	0	0	0	1	0	1	2	6	2	1	2	6	1	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:153747831G>T	ENST00000368661.3	+	0	64				SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Missense_Mutation_p.G81V	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						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)			GCCTGGGTGGGAATGGGCGTG	0.682																																																	0													37	43	41					1																	153747831		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			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.-2G>T	1.37:g.153747831G>T			Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G81V	ENST00000368661.3	37	c.242	CCDS1053.1	1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029398	0.54790	.	.	ENSG00000143554	ENST00000271857	T	0.62232	0.04	4.32	1.99	0.26369	.	.	.	.	.	T	0.54382	0.1855	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58923	-0.7550	6	0.72032	D	0.01	-4.6903	7.163	0.25675	0.2556:0.0:0.7444:0.0	.	.	.	.	V	81	ENSP00000271857:G81V	ENSP00000271857:G81V	G	+	2	0	SLC27A3	152014455	0.997000	0.39634	1.000000	0.80357	0.886000	0.51366	0.645000	0.24782	0.819000	0.34492	0.462000	0.41574	GGA	SLC27A3	-	NULL	ENSG00000143554		0.682	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	HGNC	protein_coding			0	37	0	G	NM_024330		153747831	1			no_errors	ENST00000271857	ensembl	human	novel	74_37	missense	10.53	34	4	SNP	0.999	T	T	153747831	G	T	153747831	1	4	145	0	1	0	0	0	0	0	0	0	14572	1189	41	3		3	SLC27A3	1	153747831	5'UTR	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1558984	153747831	95502790	15	36800											
NES	10763	genome.wustl.edu	37	chr1	156642916	156642916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggcaagggtgaggggaggGaagttgggctcaggactggg	9	5	22	5	0	1	1	1	1	0	0	1	4	1	4	0	8	0	3	0	8	2	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:156642916G>T	ENST00000368223.3	-	4	1196	c.1064C>A	c.(1063-1065)tCc>tAc	p.S355Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	355	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGGGGAGGGAAGTTGGGCT	0.602																																																	0													37	47	43					1																	156642916		2202	4299	6501	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1064C>A	1.37:g.156642916G>T	ENSP00000357206:p.Ser355Tyr		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.S355Y	ENST00000368223.3	37	c.1064	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271370	0.59649	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.86694	-2.16	4.87	3.95	0.45737	.	0.542047	0.13979	N	0.349638	D	0.83266	0.5217	L	0.53249	1.67	0.25430	N	0.988194	D	0.61697	0.99	P	0.54664	0.758	T	0.75701	-0.3226	10	0.87932	D	0	.	8.8793	0.35365	0.1049:0.0:0.8951:0.0	.	355	P48681	NEST_HUMAN	Y	355	ENSP00000357206:S355Y	ENSP00000255024:S355Y	S	-	2	0	NES	154909540	0.885000	0.30320	0.567000	0.28434	0.982000	0.71751	2.573000	0.46007	1.046000	0.40249	0.313000	0.20887	TCC	NES	-	NULL	ENSG00000132688		0.602	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0	43	0	G	NM_006617		156642916	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.504	T	T	156642916	G	T	156642916	3	4	145	1	0	0	0	0	1	0	0	0	10376	1174	41	3	3805	3	NES	1	156642916	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	2895085	156642916	92607705	16	36801											
CFH	3075	genome.wustl.edu	37	chr1	196682864	196682864	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttattctcttcccttttaGaaacatgttccaaatcaagt	11	17	3	10	0	3	1	1	0	2	1	6	1	5	1	2	0	1	1	2	0	5	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:196682864G>T	ENST00000367429.4	+	10	1576		c.e10-1			NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H						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						TTCCCTTTTAGAAACATGTTC	0.249																																																	0													37	37	37					1																	196682864		2202	4299	6501	SO:0001630	splice_region_variant	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1337-1G>T	1.37:g.196682864G>T			A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Splice_Site	SNP	-	e10-1	ENST00000367429.4	37	c.1337-1	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287636	0.23478	.	.	ENSG00000000971	ENST00000367429	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2971	0.66321	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CFH	194949487	1.000000	0.71417	0.997000	0.53966	0.095000	0.18619	4.372000	0.59530	2.443000	0.82685	0.591000	0.81541	.	CFH	-	-	ENSG00000000971		0.249	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2		0	11	0	G	NM_000186	Intron	196682864	1			no_errors	ENST00000367429	ensembl	human	known	74_37	splice_site	18.18	9	2	SNP	1.000	T	T	196682864	G	T	196682864	5	4	145	1	0	0	0	0	0	0	1	0	3290	956	33	3	1392	3	CFH	1	196682864	Splice_Site	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	40039948	196682864	52567757	17	36802											
IGFN1	91156	genome.wustl.edu	37	chr1	201181738	201181738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgctggccagggggggttgGcatctcagggaggtggggac	5	8	21	7	0	1	0	1	0	1	0	2	2	1	2	1	9	1	3	1	9	0	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:201181738G>A	ENST00000335211.4	+	12	7847	c.7717G>A	c.(7717-7719)Gca>Aca	p.A2573T	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGGGGGTTGGCATCTCAGGG	0.597																																																	0													18	21	20					1																	201181738		692	1591	2283	SO:0001583	missense	0			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.7717G>A	1.37:g.201181738G>A	ENSP00000334714:p.Ala2573Thr		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A2573T	ENST00000335211.4	37	c.7717	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	g	7.138	0.581194	0.13686	.	.	ENSG00000163395	ENST00000335211	T	0.50277	0.75	3.66	1.5	0.22942	.	.	.	.	.	T	0.22820	0.0551	N	0.08118	0	0.20764	N	0.999855	.	.	.	.	.	.	T	0.19943	-1.0290	6	.	.	.	.	4.8702	0.13629	0.1205:0.0:0.6713:0.2082	.	.	.	.	T	2573	ENSP00000334714:A2573T	.	A	+	1	0	IGFN1	199448361	0.001000	0.12720	0.004000	0.12327	0.033000	0.12548	0.807000	0.27140	0.482000	0.27582	0.306000	0.20318	GCA	IGFN1	-	NULL	ENSG00000163395		0.597	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding			0	66	0	G	NM_178275		201181738	1			no_errors	ENST00000335211	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.003	A	A	201181738	G	A	201181738	3	1	145	1	0	0	0	0	1	0	0	0	7617	1203	42	3	7759	3	IGFN1	1	201181738	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	4498874	201181738	48068883	18	36803											
SYT2	127833	genome.wustl.edu	37	chr1	202571541	202571541	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttcattgaaggcagggttcaGtgtcttccgatggactttgg	7	14	13	7	1	3	1	2	1	1	0	4	3	4	2	1	4	0	2	1	4	1	5	rs551242051		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:202571541G>T	ENST00000367267.1	-	5	790	c.598C>A	c.(598-600)Ctg>Atg	p.L200M	SYT2_ENST00000367268.4_Missense_Mutation_p.L200M|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	200	C2 1. {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)	GCAGGGTTCAGTGTCTTCCGA	0.522																																																	0													158	150	153					1																	202571541		2203	4300	6503	SO:0001583	missense	0			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.598C>A	1.37:g.202571541G>T	ENSP00000356236:p.Leu200Met		Q496K5|Q8NBE5	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.L200M	ENST00000367267.1	37	c.598	CCDS1427.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990762	0.74589	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.11712	2.75;2.75	5.58	3.72	0.42706	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	T	0.41673	0.1169	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52495	-0.8568	10	0.87932	D	0	.	12.1788	0.54199	0.1407:0.0:0.8593:0.0	.	200	Q8N9I0	SYT2_HUMAN	M	200	ENSP00000356237:L200M;ENSP00000356236:L200M	ENSP00000356236:L200M	L	-	1	2	SYT2	200838164	1.000000	0.71417	0.693000	0.30195	0.957000	0.61999	5.768000	0.68858	0.726000	0.32339	-0.137000	0.14449	CTG	SYT2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	ENSG00000143858		0.522	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT2	HGNC	protein_coding	OTTHUMT00000099157.1		0	45	0	G	NM_177402		202571541	-1			no_errors	ENST00000367267	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.997	T	T	202571541	G	T	202571541	3	4	145	1	0	0	0	0	1	0	0	0	15521	1020	36	3	681	3	SYT2	1	202571541	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1389803	202571541	46679080	19	36804											
USH2A	7399	genome.wustl.edu	37	chr1	215802171	215802171	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcaccagtccactgttgtgGcccatgatggcttcccacag	7	10	9	15	0	1	1	1	1	0	0	3	1	3	1	4	2	0	2	4	2	0	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:215802171G>T	ENST00000307340.3	-	71	15890	c.15504C>A	c.(15502-15504)ggC>ggA	p.G5168G	SNORD116_ENST00000365628.1_RNA|USH2A_ENST00000366943.2_Silent_p.G5192G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5168					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)	p.G5168G(1)		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)		CACTGTTGTGGCCCATGATGG	0.493										HNSCC(13;0.011)																																							1	Substitution - coding silent(1)	lung(1)											95	98	97					1																	215802171		2203	4300	6503	SO:0001819	synonymous_variant	0			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.15504C>A	1.37:g.215802171G>T			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.G5192	ENST00000307340.3	37	c.15576	CCDS31025.1	1																																																																																			USH2A	-	NULL	ENSG00000042781		0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	50	0	G	NM_007123		215802171	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.998	T	T	215802171	G	T	215802171	2	4	145	1	0	0	0	0	0	0	0	1	17085	1190	42	3		3	USH2A	1	215802171	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	13230630	215802171	33448450	20	36805											
LBR	3930	genome.wustl.edu	37	chr1	225611623	225611623	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctcttaccttaatatcaTtctctttcaattcaagctct	10	17	3	11	0	6	0	3	0	3	0	7	1	6	0	1	0	3	2	1	0	5	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:225611623T>C	ENST00000338179.2	-	2	280	c.155A>G	c.(154-156)aAt>aGt	p.N52S	LBR_ENST00000272163.4_Missense_Mutation_p.N52S	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	52	Tudor.				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)		CTTAATATCATTCTCTTTCAA	0.378																																																	0													208	211	210					1																	225611623		2203	4300	6503	SO:0001583	missense	0			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.155A>G	1.37:g.225611623T>C	ENSP00000339883:p.Asn52Ser		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor	p.N52S	ENST00000338179.2	37	c.155	CCDS1545.1	1	.	.	.	.	.	.	.	.	.	.	T	1.941	-0.443653	0.04604	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080	D;D;T	0.96745	-4.11;-4.11;0.64	5.3	-5.63	0.02474	Lamin-B receptor of TUDOR domain (1);Tudor domain (1);	0.606682	0.19252	N	0.118918	D	0.83083	0.5177	N	0.01874	-0.695	0.22424	N	0.999119	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.74503	-0.3644	10	0.02654	T	1	-2.8992	12.7272	0.57176	0.0:0.4663:0.0:0.5337	.	52;52	C9JXK0;Q14739	.;LBR_HUMAN	S	52	ENSP00000272163:N52S;ENSP00000339883:N52S;ENSP00000388059:N52S	ENSP00000272163:N52S	N	-	2	0	LBR	223678246	0.923000	0.31300	0.620000	0.29132	0.792000	0.44763	-0.016000	0.12613	-1.641000	0.01523	-0.899000	0.02877	AAT	LBR	-	pfam_Lamin-B_rcpt_of_tudor,smart_Tudor	ENSG00000143815		0.378	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LBR	HGNC	protein_coding	OTTHUMT00000091398.1	-	0	53	0	T	NM_002296		225611623	-1	tier1	-	no_errors	ENST00000272163	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.681	C	C	225611623	T	C	225611623	3	2	145	1	0	0	0	0	1	0	0	0	8680	1493	52	4	1744	4	LBR	1	225611623	Missense_Mutation	SNP	T	TCGA-R6-A6XQ-01B-11D-A33E-09	9809452	225611623	23638998	21	36806											
OBSCN	84033	genome.wustl.edu	37	chr1	228494222	228494222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggccaatgggcgccgggagCcacggcttcagggctgcacc	7	4	16	14	3	1	0	1	0	0	0	1	1	1	1	4	5	2	3	4	5	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:228494222C>T	ENST00000422127.1	+	44	11853	c.11809C>T	c.(11809-11811)Cca>Tca	p.P3937S	OBSCN_ENST00000284548.11_Missense_Mutation_p.P3937S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P1571S|OBSCN_ENST00000570156.2_Missense_Mutation_p.P4894S|OBSCN_ENST00000366709.4_Missense_Mutation_p.P1056S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3937	Ig-like 40.				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)				GCGCCGGGAGCCACGGCTTCA	0.647																																																	0													29	33	31					1																	228494222		1968	4155	6123	SO:0001583	missense	0			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.11809C>T	1.37:g.228494222C>T	ENSP00000409493:p.Pro3937Ser		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.P3937S	ENST00000422127.1	37	c.11809	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668306	0.29604	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.28	-3.2	0.05156	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.158870	0.06438	N	0.725348	T	0.59307	0.2184	L	0.41906	1.305	0.09310	N	1	D;B	0.58970	0.984;0.032	P;B	0.57204	0.815;0.022	T	0.53315	-0.8456	10	0.54805	T	0.06	.	1.935	0.03335	0.4895:0.1681:0.1896:0.1528	.	3937;3937	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	3937;3937;1571;1056	ENSP00000284548:P3937S;ENSP00000409493:P3937S;ENSP00000355668:P1571S;ENSP00000355670:P1056S	ENSP00000284548:P3937S	P	+	1	0	OBSCN	226560845	0.000000	0.05858	0.126000	0.21872	0.060000	0.15804	-0.725000	0.04942	-0.255000	0.09486	0.462000	0.41574	CCA	OBSCN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000154358		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding			0	32	0	C	NM_052843		228494222	1			no_errors	ENST00000422127	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.000	T	T	228494222	C	T	228494222	3	4	145	1	0	0	0	0	1	0	0	0	10851	739	26	3	11979	3	OBSCN	1	228494222	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	2882599	228494222	20756399	22	36807											
TRIM17	51127	genome.wustl.edu	37	chr1	228595948	228595948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgaccatctgaccaGacttcggagcccccaggcag	10	6	12	13	1	1	4	0	2	1	2	2	6	1	5	4	3	1	1	4	3	0	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:228595948G>T	ENST00000366697.2	-	6	2344	c.1388C>A	c.(1387-1389)tCt>tAt	p.S463Y	TRIM11_ENST00000493030.2_5'Flank|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.S463Y|TRIM17_ENST00000295033.3_Missense_Mutation_p.S463Y|TRIM11_ENST00000284551.6_5'Flank|TRIM11_ENST00000366699.3_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	463	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CATCTGACCAGACTTCGGAGC	0.607																																																	0													68	75	73					1																	228595948		2203	4300	6503	SO:0001583	missense	0			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1388C>A	1.37:g.228595948G>T	ENSP00000355658:p.Ser463Tyr		B4DVJ2|Q5VST8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S463Y	ENST00000366697.2	37	c.1388	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741440	0.69304	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.71103	-0.54;-0.54;-0.54	4.16	4.16	0.48862	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.36374	N	0.002629	T	0.81153	0.4763	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82621	-0.0367	10	0.87932	D	0	.	12.2736	0.54721	0.0:0.0:1.0:0.0	.	463	Q9Y577	TRI17_HUMAN	Y	463	ENSP00000355658:S463Y;ENSP00000355659:S463Y;ENSP00000295033:S463Y	ENSP00000295033:S463Y	S	-	2	0	TRIM17	226662571	0.743000	0.28239	0.412000	0.26496	0.854000	0.48673	3.314000	0.51943	2.585000	0.87301	0.655000	0.94253	TCT	TRIM17	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000162931		0.607	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2		0	90	0	G	NM_016102		228595948	-1			no_errors	ENST00000295033	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.477	T	T	228595948	G	T	228595948	3	4	145	1	0	0	0	0	1	0	0	0	16541	942	33	3	49	3	TRIM17	1	228595948	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	101726	228595948	20654673	23	36808											
ARID4B	51742	genome.wustl.edu	37	chr1	235383152	235383152	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcttctacctttatgttgagGgattcatctaccctagttgt	7	17	8	9	0	3	1	1	1	2	0	3	2	3	2	2	1	2	3	2	1	4	9			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:235383152G>C	ENST00000264183.3	-	16	2036	c.1539C>G	c.(1537-1539)tcC>tcG	p.S513S	ARID4B_ENST00000366603.2_Silent_p.S513S|ARID4B_ENST00000349213.3_Silent_p.S513S	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	513	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S513S(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTATGTTGAGGGATTCATCTA	0.343																																																	1	Substitution - coding silent(1)	lung(1)											218	202	207					1																	235383152		2203	4300	6503	SO:0001819	synonymous_variant	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1539C>G	1.37:g.235383152G>C			A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S513	ENST00000264183.3	37	c.1539	CCDS31061.1	1																																																																																			ARID4B	-	NULL	ENSG00000054267		0.343	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3		0	26	0	G	NM_016374		235383152	-1			no_errors	ENST00000264183	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.952	C	C	235383152	G	C	235383152	2	2	145	1	0	0	0	0	0	0	0	1	920	1219	43	5		5	ARID4B	1	235383152	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	6787204	235383152	13867469	24	36809											
ACTN2	88	genome.wustl.edu	37	chr1	236918342	236918342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcccggagctccatccaGatcacaggagccctggaaga	11	6	11	13	1	1	2	1	0	0	2	3	5	3	5	4	3	3	1	4	3	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:236918342G>T	ENST00000366578.4	+	17	2164	c.1998G>T	c.(1996-1998)caG>caT	p.Q666H	ACTN2_ENST00000546208.1_Missense_Mutation_p.Q160H|ACTN2_ENST00000542672.1_Missense_Mutation_p.Q666H	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	666					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTCCATCCAGATCACAGGAG	0.557																																																	0													117	115	116					1																	236918342		2203	4300	6503	SO:0001583	missense	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1998G>T	1.37:g.236918342G>T	ENSP00000355537:p.Gln666His		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.Q666H	ENST00000366578.4	37	c.1998	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828328	0.32329	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.49432	0.78;0.78;0.78	4.62	3.71	0.42584	.	0.731928	0.13715	N	0.367826	T	0.33030	0.0849	N	0.08118	0	0.34028	D	0.653523	B;B;B;B	0.33528	0.416;0.0;0.391;0.245	B;B;B;B	0.43701	0.215;0.006;0.428;0.112	T	0.45862	-0.9232	10	0.52906	T	0.07	.	5.1172	0.14840	0.1915:0.3174:0.491:0.0	.	451;666;436;666	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	H	666;666;160;435	ENSP00000443495:Q666H;ENSP00000355537:Q666H;ENSP00000438384:Q160H	ENSP00000355537:Q666H	Q	+	3	2	ACTN2	234984965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.993000	0.29680	0.928000	0.37168	0.557000	0.71058	CAG	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.557	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	-	0	51	0	G	NM_001103		236918342	1	tier1	-	no_errors	ENST00000366578	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	T	T	236918342	G	T	236918342	3	4	145	1	0	0	0	0	1	0	0	0	205	933	33	3	2064	3	ACTN2	1	236918342	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1535190	236918342	12332279	25	36810											
RYR2	6262	genome.wustl.edu	37	chr1	237758806	237758806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaattcagcatcaaacGcagcaactgctatatggtat	14	12	7	8	1	2	1	2	1	0	0	2	1	2	1	0	1	5	5	0	1	6	5	rs373024059		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:237758806G>A	ENST00000366574.2	+	34	4762	c.4445G>A	c.(4444-4446)cGc>cAc	p.R1482H	RYR2_ENST00000360064.6_Missense_Mutation_p.R1480H|RYR2_ENST00000542537.1_Missense_Mutation_p.R1466H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1482	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)	p.R1480P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCATCAAACGCAGCAACTGC	0.443													G|||	1	0.000199681	0	0	5008	,	,		20895	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						G	HIS/ARG	0,4036		0,0,2018	79	81	80		4445	5	1	1		80	2,8344		0,2,4171	no	missense	RYR2	NM_001035.2	29	0,2,6189	AA,AG,GG		0.024,0.0,0.0162	benign	1482/4968	237758806	2,12380	2018	4173	6191	SO:0001583	missense	0			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.4445G>A	1.37:g.237758806G>A	ENSP00000355533:p.Arg1482His		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R1480H	ENST00000366574.2	37	c.4439	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781147	0.49891	0.0	2.4E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.61627	0.09;0.09;0.09	5.0	5.0	0.66597	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.267390	0.30446	N	0.009610	T	0.58666	0.2138	M	0.66378	2.025	0.80722	D	1	B	0.18863	0.031	B	0.12156	0.007	T	0.56902	-0.7902	10	0.41790	T	0.15	.	18.4746	0.90788	0.0:0.0:1.0:0.0	.	1482	Q92736	RYR2_HUMAN	H	1482;1480;1466	ENSP00000355533:R1482H;ENSP00000353174:R1480H;ENSP00000443798:R1466H	ENSP00000353174:R1480H	R	+	2	0	RYR2	235825429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.560000	0.73950	2.598000	0.87819	0.655000	0.94253	CGC	RYR2	-	pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198626		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0	29	0	G	NM_001035		237758806	1			no_errors	ENST00000360064	ensembl	human	known	74_37	missense	20.00	8	2	SNP	1.000	A	A	237758806	G	A	237758806	3	1	145	1	0	0	0	0	1	0	0	0	13814	1087	38	1	4579	1	RYR2	1	237758806	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	840464	237758806	11491815	26	36811											
RYR2	6262	genome.wustl.edu	37	chr1	237936939	237936939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctttaacactcttacagaGtatattcaggtaaacattta	14	15	5	7	0	3	1	1	0	2	1	3	1	3	1	0	1	3	2	0	1	7	9			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:237936939G>T	ENST00000366574.2	+	87	12083	c.11766G>T	c.(11764-11766)gaG>gaT	p.E3922D	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.E3928D|RYR2_ENST00000542537.1_Missense_Mutation_p.E3906D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3922					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)			CTCTTACAGAGTATATTCAGG	0.363																																																	0													82	79	80					1																	237936939		1845	4090	5935	SO:0001583	missense	0			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.11766G>T	1.37:g.237936939G>T	ENSP00000355533:p.Glu3922Asp		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E3928D	ENST00000366574.2	37	c.11784	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611083	0.66558	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97642	-4.47;-4.47;-4.47	5.04	1.57	0.23409	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000011	D	0.98451	0.9484	H	0.94734	3.575	0.80722	D	1	D;P	0.71674	0.998;0.937	D;P	0.83275	0.996;0.615	D	0.97655	1.0157	10	0.87932	D	0	-16.5542	7.5386	0.27725	0.4853:0.0:0.5147:0.0	.	896;3922	B4DGV4;Q92736	.;RYR2_HUMAN	D	3922;3928;3906;896	ENSP00000355533:E3922D;ENSP00000353174:E3928D;ENSP00000443798:E3906D	ENSP00000353174:E3928D	E	+	3	2	RYR2	236003562	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	0.553000	0.23391	0.620000	0.30215	0.579000	0.79373	GAG	RYR2	-	pfam_RIH_assoc-dom	ENSG00000198626		0.363	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	45	0	G	NM_001035		237936939	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.999	T	T	237936939	G	T	237936939	3	4	145	1	0	0	0	0	1	0	0	0	13814	1020	36	3	12112	3	RYR2	1	237936939	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	178133	237936939	11313682	27	36812											
OR2L3	391192	genome.wustl.edu	37	chr1	248224713	248224713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgacctgcagcacccacCtcactgtagtaactttctac	10	10	5	16	0	2	1	1	1	1	0	2	1	2	1	4	0	4	4	4	0	3	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr1:248224713C>A	ENST00000359959.3	+	1	730	c.730C>A	c.(730-732)Ctc>Atc	p.L244I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAGCACCCACCTCACTGTAGT	0.478																																																	0													155	143	147					1																	248224713		2203	4300	6503	SO:0001583	missense	0			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.730C>A	1.37:g.248224713C>A	ENSP00000353044:p.Leu244Ile		B9EH44	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L244I	ENST00000359959.3	37	c.730	CCDS31104.1	1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293991	0.23564	.	.	ENSG00000198128	ENST00000359959	T	0.43294	0.95	2.05	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28376	U	0.015580	T	0.47192	0.1432	M	0.64404	1.975	0.26925	N	0.966595	P	0.50156	0.932	P	0.55087	0.768	T	0.32508	-0.9904	10	0.44086	T	0.13	.	5.8494	0.18683	0.0:0.7226:0.0:0.2774	.	244	Q8NG85	OR2L3_HUMAN	I	244	ENSP00000353044:L244I	ENSP00000353044:L244I	L	+	1	0	OR2L3	246291336	0.000000	0.05858	0.892000	0.35008	0.110000	0.19582	-0.453000	0.06778	0.175000	0.19841	0.462000	0.41574	CTC	OR2L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000198128		0.478	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1		0	97	0	C	NM_001004687		248224713	1			no_errors	ENST00000359959	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.911	A	A	248224713	C	A	248224713	3	1	145	1	0	0	0	0	1	0	0	0	11047	681	24	3	732	3	OR2L3	1	248224713	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	10287774	248224713	1025908	28	36813											
ALLC	55821	genome.wustl.edu	37	chr2	3744990	3744990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgtgaatgggcagttttccGattggcacatcctggagtaa	9	13	12	7	1	0	1	0	1	0	0	2	3	2	2	2	3	0	4	2	3	2	5	rs35124934	byFrequency	TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:3744990G>C	ENST00000252505.3	+	10	956	c.794G>C	c.(793-795)cGa>cCa	p.R265P	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	284					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)		GCAGTTTTCCGATTGGCACAT	0.373										HNSCC(21;0.051)																																							0													156	152	153					2																	3744990		1858	4097	5955	SO:0001583	missense	0			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.794G>C	2.37:g.3744990G>C	ENSP00000252505:p.Arg265Pro		Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.R265P	ENST00000252505.3	37	c.794	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947365	0.53186	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.47	4.58	0.56647	Allantoicase domain (1);Galactose-binding domain-like (1);	0.124148	0.49916	D	0.000127	T	0.81997	0.4941	H	0.95539	3.685	0.40270	D	0.97827	D	0.69078	0.997	D	0.67725	0.953	D	0.85594	0.1248	9	0.72032	D	0.01	-12.8632	8.8278	0.35065	0.1715:0.0:0.8285:0.0	.	284	Q8N6M5	ALLC_HUMAN	P	265	.	ENSP00000252505:R265P	R	+	2	0	ALLC	3722865	1.000000	0.71417	0.951000	0.38953	0.612000	0.37316	4.488000	0.60300	2.561000	0.86390	0.563000	0.77884	CGA	ALLC	-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	ENSG00000151360		0.373	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	-	0	61	0	G			3744990	1	tier1	-	no_errors	ENST00000252505	ensembl	human	known	74_37	missense	56.14	25	32	SNP	0.920	C	C	3744990	G	C	3744990	3	2	145	1	0	0	0	0	1	0	0	0	534	1058	37	5	828	5	ALLC	2	3744990	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		3744990	239454383	29	36814											
GREB1	9687	genome.wustl.edu	37	chr2	11767137	11767137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttatgtgcggcgtcagacGgcacggatgagactgtccaa	9	9	13	10	4	1	2	1	1	0	2	2	4	2	3	1	3	1	1	1	3	2	2	rs543467857		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:11767137G>A	ENST00000381486.2	+	25	4656	c.4356G>A	c.(4354-4356)acG>acA	p.T1452T	GREB1_ENST00000396123.1_Silent_p.T450T|GREB1_ENST00000234142.5_Silent_p.T1452T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1452						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)		GGCGTCAGACGGCACGGATGA	0.562													G|||	1	0.000199681	0	0	5008	,	,		20421	0		0	False		,,,				2504	0.001				Ovarian(39;850 945 2785 23371 33093)												0													84	90	88					2																	11767137		2098	4224	6322	SO:0001819	synonymous_variant	0				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.4356G>A	2.37:g.11767137G>A			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	superfamily_P-loop_NTPase	p.T1452	ENST00000381486.2	37	c.4356	CCDS42655.1	2																																																																																			GREB1	-	NULL	ENSG00000196208		0.562	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0	72	0	G	NM_014668		11767137	1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	silent	24.59	46	15	SNP	0.169	A	A	11767137	G	A	11767137	2	1	145	1	0	0	0	0	0	0	0	1	6787	1103	39	1		1	GREB1	2	11767137	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	8022147	11767137	231432236	30	36815											
LPIN1	23175	genome.wustl.edu	37	chr2	11913846	11913846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcctcataccctaattcgGatagagagtggtcacccact	11	9	8	13	1	2	1	2	0	0	1	3	3	2	2	3	2	2	0	3	2	3	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:11913846G>T	ENST00000256720.2	+	5	790	c.697G>T	c.(697-699)Gat>Tat	p.D233Y	LPIN1_ENST00000425416.2_Missense_Mutation_p.D239Y|LPIN1_ENST00000396098.1_Missense_Mutation_p.D239Y|LPIN1_ENST00000396099.1_Missense_Mutation_p.D239Y|LPIN1_ENST00000449576.2_Missense_Mutation_p.D282Y	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	233					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)		CCCTAATTCGGATAGAGAGTG	0.473																																																	0													126	124	125					2																	11913846		2203	4300	6503	SO:0001583	missense	0			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.697G>T	2.37:g.11913846G>T	ENSP00000256720:p.Asp233Tyr		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.D282Y	ENST00000256720.2	37	c.844	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315663	0.81469	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	D;D;D;D;D	0.90676	-1.73;-2.71;-1.7;-1.92;-1.91	5.33	5.33	0.75918	.	0.250238	0.45867	D	0.000323	D	0.94644	0.8273	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	0.999;0.993;1.0	D;P;D	0.75484	0.957;0.855;0.986	D	0.95072	0.8205	10	0.87932	D	0	-12.2847	17.1909	0.86879	0.0:0.0:1.0:0.0	.	282;233;239	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	Y	282;239;239;239;233	ENSP00000397908:D282Y;ENSP00000379405:D239Y;ENSP00000379406:D239Y;ENSP00000401522:D239Y;ENSP00000256720:D233Y	ENSP00000256720:D233Y	D	+	1	0	LPIN1	11831297	1.000000	0.71417	0.754000	0.31244	0.918000	0.54935	6.758000	0.74929	2.505000	0.84491	0.467000	0.42956	GAT	LPIN1	-	NULL	ENSG00000134324		0.473	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3		0	55	0	G	NM_145693		11913846	1			no_errors	ENST00000449576	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.935	T	T	11913846	G	T	11913846	3	4	145	1	0	0	0	0	1	0	0	0	8953	1174	41	3	711	3	LPIN1	2	11913846	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	146709	11913846	231285527	31	36816											
OTOF	9381	genome.wustl.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-																															tctggctcctccgcagtgccCttcttcttcttcttcttctc																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)												0									,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	0			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.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.K1310in_frame_del	ENST00000272371.2	37	c.3930_3928	CCDS1725.1	2																																																																																			OTOF	-	NULL	ENSG00000115155		0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3		0	20	0	CTT			26693556	-1	tier1		no_errors	ENST00000272371	ensembl	human	known	74_37	in_frame_del	15.79	16	3	DEL	0.998:1.000:1.000	-	-	26693556	CTT	-	26693554	7	5	145	1	0	1	0	1	0	0	0	0	11342	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-R6-A6XQ-01B-11D-A33E-09	14779708	26693554	216505819	32	36817											
RTN4	57142	genome.wustl.edu	37	chr2	55200965	55200965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaggaaattacctgatgccGttcataaataacaggaacac	16	10	7	8	1	1	1	1	1	0	0	1	3	1	3	2	2	4	1	2	2	7	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:55200965G>A	ENST00000337526.6	-	7	3712	c.3469C>T	c.(3469-3471)Cgg>Tgg	p.R1157W	RTN4_ENST00000402434.2_Missense_Mutation_p.R310W|RTN4_ENST00000394609.2_Missense_Mutation_p.R164W|RTN4_ENST00000394611.2_Missense_Mutation_p.R951W|RTN4_ENST00000354474.6_Missense_Mutation_p.R925W|RTN4_ENST00000486085.1_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.R951W|RTN4_ENST00000317610.7_Missense_Mutation_p.R338W|RTN4_ENST00000357376.3_Missense_Mutation_p.R951W|RTN4_ENST00000357732.4_Missense_Mutation_p.R357W|RTN4_ENST00000404909.1_Missense_Mutation_p.R951W	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1157	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				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						ACCTGATGCCGTTCATAAATA	0.368																																																	0													82	86	85					2																	55200965		2203	4300	6503	SO:0001583	missense	0			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.3469C>T	2.37:g.55200965G>A	ENSP00000337838:p.Arg1157Trp		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.R1157W	ENST00000337526.6	37	c.3469	CCDS42684.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.654487|4.654487	0.88056|0.88056	.|.	.|.	ENSG00000115310|ENSG00000115310	ENST00000394609;ENST00000405240;ENST00000357376;ENST00000337526;ENST00000317610;ENST00000357732;ENST00000394611;ENST00000404909;ENST00000402434;ENST00000354474|ENST00000438462	T;T;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;0.86;0.86|.	5.96|5.96	5.01|5.01	0.66863|0.66863	.|.	0.046199|.	0.85682|.	D|.	0.000000|.	T|T	0.52240|0.52240	0.1722|0.1722	L|L	0.28458|0.28458	0.855|0.855	0.49389|0.49389	D|D	0.99978|0.99978	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998|.	D;D;D;D|.	0.97110|.	0.993;0.988;1.0;0.968|.	T|T	0.41680|0.41680	-0.9495|-0.9495	10|5	0.87932|.	D|.	0|.	-6.4701|-6.4701	11.7147|11.7147	0.51645|0.51645	0.0:0.0:0.6232:0.3768|0.0:0.0:0.6232:0.3768	.|.	338;357;1157;164|.	Q7L7Q6;Q9NQC3-5;Q9NQC3;Q7L7Q5|.	.;.;RTN4_HUMAN;.|.	W|M	164;951;951;1157;338;357;951;951;310;925|180	ENSP00000378107:R164W;ENSP00000384471:R951W;ENSP00000349944:R951W;ENSP00000337838:R1157W;ENSP00000322147:R338W;ENSP00000350365:R357W;ENSP00000378109:R951W;ENSP00000385650:R951W;ENSP00000384825:R310W;ENSP00000346465:R925W|.	ENSP00000322147:R338W|.	R|T	-|-	1|2	2|0	RTN4|RTN4	55054469|55054469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.626000|5.626000	0.67777|0.67777	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CGG|ACG	RTN4	-	pfam_Reticulon,pfscan_Reticulon	ENSG00000115310		0.368	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1		0	42	0	G			55200965	-1			no_errors	ENST00000337526	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	55200965	G	A	55200965	3	1	145	1	0	0	0	0	1	0	0	0	13773	1144	40	1	121	1	RTN4	2	55200965	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	28507411	55200965	187998408	33	36818											
CNRIP1	25927	genome.wustl.edu	37	chr2	68546496	68546496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	attaggctggatgcgcagcgCgatggagaggcgcacgaggc	9	5	18	9	5	0	1	0	0	0	1	0	5	0	2	0	5	2	3	0	5	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:68546496C>T	ENST00000263655.3	-	1	642	c.37G>A	c.(37-39)Gcg>Acg	p.A13T	CNRIP1_ENST00000481714.1_Intron|CNRIP1_ENST00000409862.1_Missense_Mutation_p.A13T|CNRIP1_ENST00000409559.3_Missense_Mutation_p.A13T	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	13								p.A13T(2)		kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ATGCGCAGCGCGATGGAGAGG	0.706																																																	2	Substitution - Missense(2)	large_intestine(2)											30	24	26					2																	68546496		2183	4273	6456	SO:0001583	missense	0			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 32"	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.37G>A	2.37:g.68546496C>T	ENSP00000263655:p.Ala13Thr		B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	NULL	p.A13T	ENST00000263655.3	37	c.37	CCDS1886.1	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300231	0.81136	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	4.73	0.667	0.17907	.	0.131033	0.53938	D	0.000059	T	0.33411	0.0862	L	0.43152	1.355	0.37672	D	0.923172	P;P;P	0.50066	0.516;0.931;0.516	B;B;B	0.38880	0.086;0.284;0.058	T	0.25082	-1.0142	9	0.66056	D	0.02	-4.0644	8.1043	0.30877	0.5317:0.3936:0.0:0.0746	.	13;13;13	B8ZZB8;Q96F85;Q96F85-2	.;CNRP1_HUMAN;.	T	13	.	ENSP00000263655:A13T	A	-	1	0	CNRIP1	68400000	1.000000	0.71417	0.846000	0.33378	0.974000	0.67602	1.452000	0.35156	-0.064000	0.13043	-0.500000	0.04577	GCG	CNRIP1	-	NULL	ENSG00000119865		0.706	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNRIP1	HGNC	protein_coding	OTTHUMT00000251758.1	-	0	88	0	C	NM_015463		68546496	-1	tier1	-	no_errors	ENST00000263655	ensembl	human	known	74_37	missense	64.79	25	46	SNP	0.884	T	T	68546496	C	T	68546496	3	4	145	1	0	0	0	0	1	0	0	0	3640	768	27	1	530	1	CNRIP1	2	68546496	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	13345531	68546496	174652877	34	36819											
LRRTM1	347730	genome.wustl.edu	37	chr2	80529687	80529687	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtggatctgcacggcgttctCggcgtgctcgccgcctggaa	4	9	15	13	6	2	0	0	0	2	0	4	2	2	2	2	4	2	3	2	4	1	1	rs200735251		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:80529687C>G	ENST00000295057.3	-	2	1914	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.E420Q|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	420					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.E420K(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ACGGCGTTCTCGGCGTGCTCG	0.662										HNSCC(69;0.2)																																							2	Substitution - Missense(2)	skin(2)											56	52	53					2																	80529687		2203	4300	6503	SO:0001583	missense	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1258G>C	2.37:g.80529687C>G	ENSP00000295057:p.Glu420Gln		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E420Q	ENST00000295057.3	37	c.1258	CCDS1966.1	2	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113877	0.56398	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.39787	1.06;1.06	5.04	5.04	0.67666	.	0.070917	0.56097	U	0.000031	T	0.36166	0.0957	N	0.08118	0	0.80722	D	1	D	0.55605	0.972	P	0.52554	0.702	T	0.26155	-1.0111	9	.	.	.	.	18.4061	0.90536	0.0:1.0:0.0:0.0	.	420	Q86UE6	LRRT1_HUMAN	Q	420	ENSP00000295057:E420Q;ENSP00000386646:E420Q	.	E	-	1	0	LRRTM1	80383198	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.814000	0.86154	2.310000	0.77875	0.655000	0.94253	GAG	LRRTM1	-	NULL	ENSG00000162951		0.662	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	-	0	29	0	C	NM_178839		80529687	-1	tier1	-	no_errors	ENST00000295057	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	G	G	80529687	C	G	80529687	3	3	145	1	0	0	0	0	1	0	0	0	9074	893	31	5	314	5	LRRTM1	2	80529687	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	11983191	80529687	162669686	35	36820											
RMND5A	64795	genome.wustl.edu	37	chr2	86980658	86980658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattagaggcattaaaggtCagagttctgagacctgctct	12	12	10	7	0	3	3	1	1	2	3	3	4	3	3	1	2	1	3	1	2	4	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:86980658C>T	ENST00000283632.4	+	4	993	c.498C>T	c.(496-498)gtC>gtT	p.V166V		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	166	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.							p.V166V(1)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						CATTAAAGGTCAGAGTTCTGA	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											129	128	128					2																	86980658		2203	4300	6503	SO:0001819	synonymous_variant	0			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.498C>T	2.37:g.86980658C>T			D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Silent	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.V166	ENST00000283632.4	37	c.498	CCDS1991.1	2																																																																																			RMND5A	-	smart_CTLH_C,pfscan_CTLH_C	ENSG00000153561		0.373	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND5A	HGNC	protein_coding	OTTHUMT00000252591.2	-	0	37	0	C	NM_022780		86980658	1	tier1	-	no_errors	ENST00000283632	ensembl	human	known	74_37	silent	28.57	10	4	SNP	1.000	T	T	86980658	C	T	86980658	2	4	145	1	0	0	0	0	0	0	0	1	13442	813	29	3		3	RMND5A	2	86980658	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	6450971	86980658	156218715	36	36821											
TRIM43	129868	genome.wustl.edu	37	chr2	96265165	96265165	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccagtgtttcctcactaCatagagaaacctctgggccg	9	10	8	14	1	2	1	1	0	1	1	4	2	4	1	5	1	2	1	5	1	3	3	rs200456827		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:96265165C>T	ENST00000272395.2	+	7	1321	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	395	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						TTCCTCACTACATAGAGAAAC	0.418																																																	0													1	1	1					2																	96265165		500	1208	1708	SO:0001819	synonymous_variant	0			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.1185C>T	2.37:g.96265165C>T			Q53TJ7	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Y395	ENST00000272395.2	37	c.1185	CCDS2015.1	2																																																																																			TRIM43	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000144015		0.418	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM43	HGNC	protein_coding	OTTHUMT00000252784.1	-	0	12	0	C	NM_138800		96265165	1	tier1	rs200456827	no_errors	ENST00000272395	ensembl	human	known	74_37	silent	52.94	8	9	SNP	0.000	T	T	96265165	C	T	96265165	2	4	145	1	0	0	0	0	0	0	0	1	16566	489	17	3		3	TRIM43	2	96265165	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	9284507	96265165	146934208	37	36822											
CIAO1	9391	genome.wustl.edu	37	chr2	96937046	96937046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcctcctgcagtgatgatgGggaggtggccttctggaagt	6	10	17	8	0	1	2	0	2	1	0	2	4	2	4	3	6	1	1	3	6	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:96937046G>T	ENST00000488633.1	+	7	1196	c.977G>T	c.(976-978)gGg>gTg	p.G326V		NM_004804.2	NP_004795.1			cytosolic iron-sulfur assembly component 1											endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						AGTGATGATGGGGAGGTGGCC	0.552																																																	0													72	68	69					2																	96937046		2203	4300	6503	SO:0001583	missense	0			U63810	CCDS2019.1	2q11.1-q11.2	2014-01-13	2014-01-13	2006-11-23	ENSG00000144021	ENSG00000144021		"WD repeat domain containing"	14280	protein-coding gene	gene with protein product		604333	"WD repeat domain 39", "cytosolic iron-sulfur protein assembly 1 homolog (S. cerevisiae)", "cytosolic iron-sulfur protein assembly 1"	WDR39		9556563, 10493829	Standard	NM_004804		Approved	CIA1	uc002svs.3	O76071	OTTHUMG00000130452	ENST00000488633.1:c.977G>T	2.37:g.96937046G>T	ENSP00000418287:p.Gly326Val			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G326V	ENST00000488633.1	37	c.977	CCDS2019.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821476	0.90873	.	.	ENSG00000144021	ENST00000488633	T	0.76060	-0.99	5.84	5.84	0.93424	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	0.90442	0.7007	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91657	0.5339	10	0.48119	T	0.1	-36.8863	17.6318	0.88111	0.0:0.0:1.0:0.0	.	326	O76071	CIAO1_HUMAN	V	326	ENSP00000418287:G326V	ENSP00000418287:G326V	G	+	2	0	CIAO1	96300773	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.256000	0.95535	2.779000	0.95612	0.655000	0.94253	GGG	CIAO1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000144021		0.552	CIAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIAO1	HGNC	protein_coding	OTTHUMT00000252843.1	-	0	63	0	G	NM_004804		96937046	1	tier1	-	no_errors	ENST00000488633	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	96937046	G	T	96937046	3	4	145	1	0	0	0	0	1	0	0	0	3425	1232	43	3	1003	3	CIAO1	2	96937046	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	671881	96937046	146262327	38	36823											
MITD1	129531	genome.wustl.edu	37	chr2	99790475	99790475	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctcttagtattatctttGgtacctacaaatttaaaaat	14	17	3	7	0	2	0	0	0	2	0	3	0	2	0	1	1	2	2	1	1	9	8			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:99790475G>T	ENST00000289359.2	-	2	232	c.156C>A	c.(154-156)acC>acA	p.T52T	MITD1_ENST00000466880.1_5'UTR|MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	52	MIT.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(2)|ovary(1)	6						TATTATCTTTGGTACCTACaa	0.274																																																	0													71	65	67					2																	99790475		2202	4299	6501	SO:0001819	synonymous_variant	0			BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.156C>A	2.37:g.99790475G>T			Q69YV0	Silent	SNP	pfam_MIT,smart_MIT	p.T52	ENST00000289359.2	37	c.156	CCDS2040.1	2																																																																																			MITD1	-	pfam_MIT,smart_MIT	ENSG00000158411		0.274	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MITD1	HGNC	protein_coding	OTTHUMT00000253126.1	-	0	36	0	G	NM_138798		99790475	-1	tier1	-	no_errors	ENST00000289359	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.994	T	T	99790475	G	T	99790475	2	4	145	1	0	0	0	0	0	0	0	1	9633	1335	47	3		3	MITD1	2	99790475	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	2853429	99790475	143408898	39	36824											
RGPD3	653489	genome.wustl.edu	37	chr2	107040824	107040824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ttttgaaatctttcagtccaCtcttcatttcttcagctctc	7	19	3	12	0	7	1	3	1	4	0	9	1	8	1	1	0	1	1	1	0	1	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:107040824C>T	ENST00000409886.3	-	20	3686	c.3599G>A	c.(3598-3600)aGt>aAt	p.S1200N	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1200N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1200					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCAGTCCACTCTTCATTTC	0.438																																																	0													1	1	1					2																	107040824		78	386	464	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3599G>A	2.37:g.107040824C>T	ENSP00000386588:p.Ser1200Asn		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S1200N	ENST00000409886.3	37	c.3599	CCDS46379.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.13|12.13	1.844625|1.844625	0.32606|0.32606	.|.	.|.	ENSG00000153165|ENSG00000153165	ENST00000452099|ENST00000409886;ENST00000304514	.|T;T	.|0.49432	.|0.78;0.78	2.35|2.35	2.35|2.35	0.29111|0.29111	.|.	.|.	.|.	.|.	.|.	.|T	.|0.48642	.|0.1511	L|L	0.34521|0.34521	1.04|1.04	0.22745|0.22745	N|N	0.998787|0.998787	.|D	.|0.69078	.|0.997	.|P	.|0.60173	.|0.87	.|T	.|0.23368	.|-1.0190	.|9	.|0.41790	.|T	.|0.15	.|-25.7003	7.081|7.081	0.25231|0.25231	0.0:0.7152:0.2848:0.0|0.0:0.7152:0.2848:0.0	.|.	.|1200	.|A6NKT7	.|RGPD3_HUMAN	.|N	-1|1200	.|ENSP00000386588:S1200N;ENSP00000303659:S1200N	.|ENSP00000303659:S1200N	.|S	-|-	.|2	.|0	RGPD3|RGPD3	106407256|106407256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.761000|0.761000	0.43186|0.43186	1.826000|1.826000	0.39092|0.39092	1.314000|1.314000	0.45095|0.45095	0.186000|0.186000	0.17326|0.17326	.|AGT	RGPD3	-	NULL	ENSG00000153165		0.438	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	-	0	63	0	C	XM_929931		107040824	-1	tier1	-	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	54.69	29	35	SNP	1.000	T	T	107040824	C	T	107040824	3	4	145	1	0	0	0	0	1	0	0	0	13332	565	20	3	1693	3	RGPD3	2	107040824	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	7250349	107040824	136158549	40	36825											
MKI67IP	84365	genome.wustl.edu	37	chr2	122493190	122493190	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgcaaaaatcttaccCttttacttctggacagcctg	11	12	5	13	0	2	0	0	0	2	0	2	1	2	1	3	1	5	1	3	1	5	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:122493190C>T	ENST00000285814.4	-	2	314	c.242G>A	c.(241-243)aGg>aAg	p.R81K		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		81	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						AAATCTTACCCTTTTACTTCT	0.388																																																	0													108	109	108					2																	122493190		2203	4300	6503	SO:0001630	splice_region_variant	0																														ENST00000285814.4:c.243+1G>A	2.37:g.122493190C>T			A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R81K	ENST00000285814.4	37	c.242	CCDS2135.1	2	.	.	.	.	.	.	.	.	.	.	C	6.771	0.511122	0.12883	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000451734	T;T	0.15487	2.42;2.42	4.39	-0.914	0.10497	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.172475	0.64402	N	0.000011	T	0.04048	0.0113	N	0.01668	-0.77	0.41152	D	0.986031	B;B	0.19073	0.002;0.033	B;B	0.22753	0.023;0.041	T	0.45977	-0.9224	10	0.02654	T	1	-8.7839	7.6371	0.28272	0.0:0.3842:0.0:0.6158	.	81;81	B4DSM4;Q9BYG3	.;MK67I_HUMAN	K	81;81;49	ENSP00000285814:R81K;ENSP00000398116:R49K	ENSP00000285814:R81K	R	-	2	0	MKI67IP	122209660	1.000000	0.71417	0.819000	0.32651	0.971000	0.66376	1.496000	0.35638	-0.334000	0.08463	0.561000	0.74099	AGG	MKI67IP	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000155438		0.388	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKI67IP	HGNC	protein_coding	OTTHUMT00000254239.2	-	0	104	0	C		Missense_Mutation	122493190	-1	tier1	-	no_errors	ENST00000285814	ensembl	human	known	74_37	missense	33.33	63	32	SNP	1.000	T	T	122493190	C	T	122493190	5	4	145	1	0	0	0	0	0	0	1	0	9637	695	24	3	663	3	MKI67IP	2	122493190	Splice_Site	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	15452366	122493190	120706183	41	36826											
WDR33	55339	genome.wustl.edu	37	chr2	128477225	128477225	+	Frame_Shift_Del	DEL	C	C	-																															gggagcaggaccctggttctCccgggggcctggaggcccct																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:128477225delC	ENST00000322313.4	-	16	2532	c.2374delG	c.(2374-2376)gagfs	p.E792fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	792					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)		CCCTGGTTCTCCCGGGGGCCT	0.617																																																	0													24	29	27					2																	128477225		2201	4299	6500	SO:0001589	frameshift_variant	0				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.2374delG	2.37:g.128477225delC	ENSP00000325377:p.Glu792fs		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E792fs	ENST00000322313.4	37	c.2374	CCDS2150.1	2																																																																																			WDR33	-	NULL	ENSG00000136709		0.617	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2		0	54	0	C	NM_018383		128477225	-1	tier1		no_errors	ENST00000322313	ensembl	human	known	74_37	frame_shift_del	13.16	33	5	DEL	1.000	-	-	128477225	C	-	128477225	7	5	145	1	0	1	0	1	0	0	0	0	17336	864	30	0	1664	0	WDR33	2	128477225	Frame_Shift_Del	DEL	C	TCGA-R6-A6XQ-01B-11D-A33E-09	5984035	128477225	114722148	42	36827											
WDR33	55339	genome.wustl.edu	37	chr2	128522385	128522385	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatagggactacagaaaatgGtatattgtgtataaacctgg	16	11	10	4	0	0	1	0	0	0	1	0	2	0	2	1	3	2	2	1	3	10	7			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:128522385G>T	ENST00000322313.4	-	6	785				WDR33_ENST00000393006.1_Intron|WDR33_ENST00000409658.3_Missense_Mutation_p.P215T	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33						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)		ACAGAAAATGGTATATTGTGT	0.423																																																	0													142	122	129					2																	128522385		2203	4300	6503	SO:0001627	intron_variant	0				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.626+16C>A	2.37:g.128522385G>T			Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P215T	ENST00000322313.4	37	c.643	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009728	0.35415	.	.	ENSG00000136709	ENST00000409658	T	0.30448	1.53	5.7	4.83	0.62350	.	.	.	.	.	T	0.20007	0.0481	.	.	.	0.35411	D	0.792475	B	0.30634	0.288	B	0.32342	0.144	T	0.11891	-1.0569	8	0.08179	T	0.78	.	14.8852	0.70564	0.069:0.0:0.931:0.0	.	215	Q9C0J8-2	.	T	215	ENSP00000387186:P215T	ENSP00000387186:P215T	P	-	1	0	WDR33	128238855	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.005000	0.70716	1.419000	0.47118	0.655000	0.94253	CCA	WDR33	-	NULL	ENSG00000136709		0.423	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2		0	64	0	G	NM_018383		128522385	-1			no_errors	ENST00000409658	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	128522385	G	T	128522385	1	4	145	0	1	0	0	0	0	0	0	0	17336	1261	44	3		3	WDR33	2	128522385	Intron	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	45160	128522385	114676988	43	36828											
NCKAP5	344148	genome.wustl.edu	37	chr2	133618112	133618112	+	Missense_Mutation	SNP	T	T	A	0	1	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	gactcgctgttggaataggaTgcttagtgttcgattctgct	7	15	12	7	2	1	0	0	0	1	0	3	4	1	2	0	2	2	5	0	2	3	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:133618112T>A	ENST00000409261.1	-	11	1133	c.760A>T	c.(760-762)Atc>Ttc	p.I254F	NCKAP5_ENST00000405974.3_Missense_Mutation_p.I254F|NCKAP5_ENST00000409213.1_Missense_Mutation_p.I254F|NCKAP5_ENST00000317721.6_Missense_Mutation_p.I254F	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	254										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGAATAGGATGCTTAGTGTT	0.408																																																	0													174	167	169					2																	133618112		1951	4139	6090	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.760A>T	2.37:g.133618112T>A	ENSP00000387128:p.Ile254Phe		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.I254F	ENST00000409261.1	37	c.760	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327005	0.60743	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.44482	2.91;0.92;2.91;0.92	5.76	1.95	0.26073	.	1.138740	0.07401	U	0.890782	T	0.31918	0.0812	N	0.14661	0.345	0.27145	N	0.961558	B;P	0.49559	0.023;0.925	B;P	0.52217	0.01;0.693	T	0.17501	-1.0367	10	0.45353	T	0.12	.	0.2486	0.00202	0.236:0.1533:0.2436:0.3671	.	254;254	O14513-2;O14513	.;NCKP5_HUMAN	F	254	ENSP00000387128:I254F;ENSP00000386952:I254F;ENSP00000380603:I254F;ENSP00000385692:I254F	ENSP00000380603:I254F	I	-	1	0	NCKAP5	133334582	1.000000	0.71417	0.976000	0.42696	0.986000	0.74619	1.251000	0.32862	0.401000	0.25424	0.450000	0.29827	ATC	NCKAP5	-	NULL	ENSG00000176771		0.408	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	38	0	T	NM_207481		133618112	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	43.48	13	10	SNP	0.998	A	A	133618112	T	A	133618112	3	1	145	1	0	0	0	0	1	0	0	0	10262	1464	51	5	5009	5	NCKAP5	2	133618112	Missense_Mutation	SNP	T	TCGA-R6-A6XQ-01B-11D-A33E-09	5095727	133618112	109581261	44	36829											
LRP1B	53353	genome.wustl.edu	37	chr2	141598621	141598621	+	Silent	SNP	T	T	C	0	1	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	ctaatccagtataaattacgTgacacccaatccactgctag	14	10	5	12	1	0	1	0	1	0	0	2	1	2	1	3	0	2	2	3	0	7	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:141598621T>C	ENST00000389484.3	-	30	5951	c.4980A>G	c.(4978-4980)tcA>tcG	p.S1660S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1660					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)		ATAAATTACGTGACACCCAAT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													133	124	127					2																	141598621		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4980A>G	2.37:g.141598621T>C			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.S1660	ENST00000389484.3	37	c.4980	CCDS2182.1	2																																																																																			LRP1B	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000168702		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	41	0	T	NM_018557		141598621	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	47.83	12	11	SNP	0.918	C	C	141598621	T	C	141598621	2	2	145	1	0	0	0	0	0	0	0	1	8990	1683	59	4		4	LRP1B	2	141598621	Silent	SNP	T	TCGA-R6-A6XQ-01B-11D-A33E-09	7980509	141598621	101600752	45	36830											
ACVR1	90	genome.wustl.edu	37	chr2	158637047	158637047	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccttcacagtggtcctCattaccgcaggagagacctt	8	10	10	13	1	2	1	2	0	0	1	3	3	3	2	4	3	1	1	4	3	1	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:158637047C>A	ENST00000263640.3	-	4	562	c.133G>T	c.(133-135)Gag>Tag	p.E45*	ACVR1_ENST00000409283.2_Nonsense_Mutation_p.E45*|ACVR1_ENST00000434821.1_Nonsense_Mutation_p.E45*|ACVR1_ENST00000410057.2_Nonsense_Mutation_p.E45*|ACVR1_ENST00000487456.1_5'UTR	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	45					activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|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 phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|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)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CAGTGGTCCTCATTACCGCAG	0.488																																																	0													94	94	94					2																	158637047		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.133G>T	2.37:g.158637047C>A	ENSP00000263640:p.Glu45*			Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.E45*	ENST00000263640.3	37	c.133	CCDS2206.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.757730	0.96898	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057;ENST00000412025;ENST00000440523;ENST00000539637;ENST00000424669	.	.	.	5.09	4.19	0.49359	.	0.356811	0.32002	N	0.006738	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	16.3354	0.83059	0.0:0.8334:0.1666:0.0	.	.	.	.	X	45	.	ENSP00000263640:E45X	E	-	1	0	ACVR1	158345293	0.942000	0.31987	0.959000	0.39883	0.981000	0.71138	3.191000	0.50981	2.364000	0.80123	0.655000	0.94253	GAG	ACVR1	-	pfam_Activin_rcpt	ENSG00000115170		0.488	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1	HGNC	protein_coding	OTTHUMT00000254927.1	-	0	33	0	C	NM_001105		158637047	-1	tier1	-	no_errors	ENST00000263640	ensembl	human	known	74_37	nonsense	18.75	13	3	SNP	0.987	A	A	158637047	C	A	158637047	4	1	145	1	0	0	0	0	0	1	0	0	220	835	29	3	1428	3	ACVR1	2	158637047	Nonsense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	17038426	158637047	84562326	46	36831											
SCN3A	6328	genome.wustl.edu	37	chr2	165986560	165986560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactctccacacagcacgcGgaacacaatcaggaaggagt	14	4	9	14	2	2	0	1	0	1	0	3	3	2	3	2	3	2	1	2	3	3	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:165986560G>A	ENST00000360093.3	-	17	3303	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C	SCN3A_ENST00000409101.3_Missense_Mutation_p.R889C|SCN3A_ENST00000283254.7_Missense_Mutation_p.R938C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	938					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R938C(1)|p.R889C(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACAGCACGCGGAACACAATC	0.493																																																	2	Substitution - Missense(2)	endometrium(2)											167	160	163					2																	165986560		2203	4297	6500	SO:0001583	missense	0			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.2812C>T	2.37:g.165986560G>A	ENSP00000353206:p.Arg938Cys		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R938C	ENST00000360093.3	37	c.2812		2	.	.	.	.	.	.	.	.	.	.	G	34	5.297909	0.95574	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.64402	D	0.000013	D	0.99588	0.9851	H	0.98802	4.335	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;0.996;0.996;1.0	D	0.97675	1.0169	10	0.87932	D	0	.	19.6755	0.95930	0.0:0.0:1.0:0.0	.	938;889;889;889;938	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	C	938;938;889;889	ENSP00000353206:R938C;ENSP00000283254:R938C;ENSP00000386726:R889C;ENSP00000403348:R889C	ENSP00000283254:R938C	R	-	1	0	SCN3A	165694806	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.813000	0.99286	2.652000	0.90054	0.563000	0.77884	CGC	SCN3A	-	pfam_Ion_trans_dom	ENSG00000153253		0.493	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		-	0	83	0	G	NM_006922		165986560	-1	tier1	-	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	A	A	165986560	G	A	165986560	3	1	145	1	0	0	0	0	1	0	0	0	13963	1116	39	1	3238	1	SCN3A	2	165986560	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	7349513	165986560	77212813	47	36832											
SCN3A	6328	genome.wustl.edu	37	chr2	166018865	166018865	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggtctttttgcccatcCaaaacataaaagtgacctgt	14	11	7	9	0	1	1	0	1	1	0	2	1	2	1	3	1	2	0	3	1	5	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:166018865C>G	ENST00000360093.3	-	9	1475	c.984G>C	c.(982-984)ttG>ttC	p.L328F	SCN3A_ENST00000409101.3_Missense_Mutation_p.L328F|SCN3A_ENST00000283254.7_Missense_Mutation_p.L328F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	328					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)	TTTGCCCATCCAAAACATAAA	0.284																																																	0													84	102	96					2																	166018865		2200	4298	6498	SO:0001583	missense	0			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.984G>C	2.37:g.166018865C>G	ENSP00000353206:p.Leu328Phe		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.L328F	ENST00000360093.3	37	c.984		2	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235448	0.39498	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96685	-4.09;-4.09;-4.05;-3.93	5.52	4.64	0.57946	Ion transport (1);	0.144445	0.31989	N	0.006750	D	0.97939	0.9322	M	0.88310	2.945	0.80722	D	1	P;B;B;B;P	0.52577	0.954;0.001;0.001;0.001;0.944	P;B;B;B;P	0.60012	0.867;0.015;0.006;0.006;0.79	D	0.98210	1.0472	10	0.59425	D	0.04	.	14.0737	0.64877	0.0:0.9277:0.0:0.0723	.	328;328;328;328;328	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	F	328	ENSP00000353206:L328F;ENSP00000283254:L328F;ENSP00000386726:L328F;ENSP00000403348:L328F	ENSP00000283254:L328F	L	-	3	2	SCN3A	165727111	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.616000	0.46376	1.302000	0.44855	0.650000	0.86243	TTG	SCN3A	-	pfam_Ion_trans_dom	ENSG00000153253		0.284	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		-	0	46	0	C	NM_006922		166018865	-1	tier1	-	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	G	G	166018865	C	G	166018865	3	3	145	1	0	0	0	0	1	0	0	0	13963	593	21	5	5098	5	SCN3A	2	166018865	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	32305	166018865	77180508	48	36833											
SCN9A	6335	genome.wustl.edu	37	chr2	167083216	167083216	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgggctgcttgtctaccTataaaatttacaaaagttag	13	15	7	6	0	1	0	0	0	1	0	1	0	1	0	1	1	3	3	1	1	8	8			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:167083216T>C	ENST00000409435.1	-	23	4260		c.e23-2		SCN9A_ENST00000303354.6_Splice_Site|SCN9A_ENST00000409672.1_Splice_Site|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Splice_Site			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit						behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.?(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTGTCTACCTATAAAATTTA	0.313																																																	1	Unknown(1)	breast(1)											49	46	47					2																	167083216		1938	4167	6105	SO:0001630	splice_region_variant	0			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.4261-2A>G	2.37:g.167083216T>C			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Splice_Site	SNP	-	e23-2	ENST00000409435.1	37	c.4264-2	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750425	0.89753	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5302	0.75952	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN9A	166791462	1.000000	0.71417	0.969000	0.41365	0.610000	0.37248	7.939000	0.87685	2.069000	0.61940	0.482000	0.46254	.	SCN9A	-	-	ENSG00000169432		0.313	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1		0	44	0	T	NM_002977	Intron	167083216	-1			no_errors	ENST00000303354	ensembl	human	known	74_37	splice_site	5.71	33	2	SNP	1.000	C	C	167083216	T	C	167083216	5	2	145	1	0	0	0	0	0	0	1	0	13970	1536	53	4	1723	4	SCN9A	2	167083216	Splice_Site	SNP	T	TCGA-R6-A6XQ-01B-11D-A33E-09	1064351	167083216	76116157	49	36834											
KLHL23	151230	genome.wustl.edu	37	chr2	170591713	170591713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcagcaattattttaaGgcaatgttcacagctgacat	12	13	8	8	0	1	1	1	1	0	0	1	1	1	1	0	1	3	6	0	1	4	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:170591713G>T	ENST00000392647.2	+	2	433	c.189G>T	c.(187-189)aaG>aaT	p.K63N	KLHL23_ENST00000272797.4_Missense_Mutation_p.K63N|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	63	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						ATTATTTTAAGGCAATGTTCA	0.353																																																	0													61	68	66					2																	170591713		2200	4298	6498	SO:0001583	missense	0			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.189G>T	2.37:g.170591713G>T	ENSP00000376419:p.Lys63Asn		Q8N9B9|Q96FT8	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.K63N	ENST00000392647.2	37	c.189	CCDS2236.1	2	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830270	0.50845	.	.	ENSG00000213160	ENST00000272797;ENST00000392647	T;T	0.70749	-0.51;-0.51	5.81	3.7	0.42460	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.045522	0.85682	D	0.000000	T	0.68513	0.3009	L	0.55213	1.73	0.33637	D	0.606769	B	0.28258	0.205	B	0.39152	0.292	T	0.75028	-0.3462	9	0.45353	T	0.12	.	9.4527	0.38736	0.2823:0.0:0.7177:0.0	.	63	Q8NBE8	KLH23_HUMAN	N	63	ENSP00000272797:K63N;ENSP00000376419:K63N	ENSP00000272797:K63N	K	+	3	2	KLHL23	170299959	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.499000	0.45372	1.456000	0.47831	0.655000	0.94253	AAG	KLHL23	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000213160		0.353	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2	-	0	54	0	G	NM_144711		170591713	1	tier1	-	no_errors	ENST00000272797	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	170591713	G	T	170591713	3	4	145	1	0	0	0	0	1	0	0	0	8405	991	35	3	191	3	KLHL23	2	170591713	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3508497	170591713	72607660	50	36835											
RAPGEF4	11069	genome.wustl.edu	37	chr2	173679105	173679105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatcgttaccagggagagCagtgaactgctccgcatcga	11	7	11	12	3	0	2	0	1	0	1	3	4	1	2	3	1	4	4	3	1	2	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:173679105C>A	ENST00000397081.3	+	4	539	c.396C>A	c.(394-396)agC>agA	p.S132R	RAPGEF4_ENST00000264111.6_Missense_Mutation_p.S132R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.S132R	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	132					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCAGGGAGAGCAGTGAACTGC	0.517																																																	0													101	97	98					2																	173679105		1930	4149	6079	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.396C>A	2.37:g.173679105C>A	ENSP00000380271:p.Ser132Arg		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.S132R	ENST00000397081.3	37	c.396	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514828	0.27123	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036	D;D;D	0.92397	-3.03;-3.03;-3.03	5.93	5.04	0.67666	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.366690	0.36482	N	0.002574	D	0.82674	0.5088	N	0.11756	0.17	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.76353	-0.2990	10	0.25106	T	0.35	.	11.0153	0.47685	0.0:0.8098:0.0:0.1902	.	132;132;132	E7EVE5;Q8WZA2;E9PB94	.;RPGF4_HUMAN;.	R	132	ENSP00000264111:S132R;ENSP00000380271:S132R;ENSP00000387104:S132R	ENSP00000264111:S132R	S	+	3	2	RAPGEF4	173387351	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.804000	0.27098	2.805000	0.96524	0.655000	0.94253	AGC	RAPGEF4	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000091428		0.517	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	-	0	37	0	C	NM_007023		173679105	1	tier1	-	no_errors	ENST00000397081	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	A	A	173679105	C	A	173679105	3	1	145	1	0	0	0	0	1	0	0	0	13091	709	25	3	410	3	RAPGEF4	2	173679105	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	3087392	173679105	69520268	51	36836											
RBM45	129831	genome.wustl.edu	37	chr2	178981028	178981028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatctggaagtcaccgaGatgttgaagatgaagaactt	14	10	11	6	1	3	5	2	2	1	3	3	8	3	6	1	1	1	1	1	1	4	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:178981028G>T	ENST00000286070.5	+	2	432	c.340G>T	c.(340-342)Gat>Tat	p.D114Y		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	114					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D114Y(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AAGTCACCGAGATGTTGAAGA	0.333																																																	1	Substitution - Missense(1)	endometrium(1)											136	138	137					2																	178981028		2203	4300	6503	SO:0001583	missense	0			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"RNA binding motif (RRM) containing"	24468	protein-coding gene	gene with protein product	"developmentally regulated RNA binding protein 1"	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.340G>T	2.37:g.178981028G>T	ENSP00000286070:p.Asp114Tyr		Q6NYL0|Q8NFC9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D114Y	ENST00000286070.5	37	c.340	CCDS33335.1	2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015566	0.93404	.	.	ENSG00000155636	ENST00000286070	D	0.85702	-2.02	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.91270	0.7248	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.91345	0.5100	10	0.87932	D	0	-25.2722	19.3813	0.94536	0.0:0.0:1.0:0.0	.	114	Q8IUH3-3	.	Y	114	ENSP00000286070:D114Y	ENSP00000286070:D114Y	D	+	1	0	RBM45	178689274	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.785000	0.85724	2.824000	0.97209	0.655000	0.94253	GAT	RBM45	-	NULL	ENSG00000155636		0.333	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM45	HGNC	protein_coding	OTTHUMT00000334375.2		0	37	0	G	NM_152945		178981028	1			no_errors	ENST00000286070	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	178981028	G	T	178981028	3	4	145	1	0	0	0	0	1	0	0	0	13184	942	33	3	346	3	RBM45	2	178981028	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	5301923	178981028	64218345	52	36837											
GTF3C3	9330	genome.wustl.edu	37	chr2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T																															tgaggtgccttcttctgaagINStttttttttccagcacaatt																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:197649613_197649614insT	ENST00000263956.3	-	8	1170_1171	c.1081_1082insA	c.(1081-1083)actfs	p.T361fs	GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.T361fs|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	361					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						TTCTTCTGAAGTTTTTTTTTCC	0.337																																																	0																																										SO:0001589	frameshift_variant	0			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.1082dupA	2.37:g.197649622_197649622dupT	ENSP00000263956:p.Thr361fs		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Frame_Shift_Ins	INS	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T361fs	ENST00000263956.3	37	c.1082_1081	CCDS2316.1	2																																																																																			GTF3C3	-	NULL	ENSG00000119041		0.337	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	HGNC	protein_coding	OTTHUMT00000256104.1		0	38	0	-			197649614	-1	tier1		no_errors	ENST00000263956	ensembl	human	known	74_37	frame_shift_ins	14.29	18	3	INS	0.008:0.044	T	T	197649614	-	T	197649613	7	5	145	1	0	1	1	0	0	0	0	0	6901	1029	36	0	1622	0	GTF3C3	2	197649613	Frame_Shift_Ins	INS	-	TCGA-R6-A6XQ-01B-11D-A33E-09	18668585	197649613	45549760	53	36838											
CRYGD	1421	genome.wustl.edu	37	chr2	208986573	208986573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggatttcattgaagcGgaagcggtcctgaagacagg	11	8	16	6	2	1	3	1	2	0	1	2	6	2	6	1	5	2	0	1	5	3	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr2:208986573G>C	ENST00000264376.4	-	3	376	c.349C>G	c.(349-351)Cgc>Ggc	p.R117G		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	117	Beta/gamma crystallin 'Greek key' 3. {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)		TCATTGAAGCGGAAGCGGTCC	0.562																																																	0													122	116	118					2																	208986573		2203	4300	6503	SO:0001583	missense	0				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.349C>G	2.37:g.208986573G>C	ENSP00000264376:p.Arg117Gly		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.R117G	ENST00000264376.4	37	c.349	CCDS2378.1	2	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132528	0.37630	.	.	ENSG00000118231	ENST00000264376	T	0.75589	-0.95	4.25	3.38	0.38709	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.439725	0.25535	N	0.030015	T	0.63815	0.2543	N	0.26162	0.8	0.24754	N	0.992964	B	0.22983	0.078	B	0.37888	0.26	T	0.57136	-0.7863	10	0.49607	T	0.09	.	5.1593	0.15053	0.1054:0.0:0.6913:0.2032	.	117	P07320	CRGD_HUMAN	G	117	ENSP00000264376:R117G	ENSP00000264376:R117G	R	-	1	0	CRYGD	208694818	0.959000	0.32827	0.936000	0.37596	0.977000	0.68977	2.522000	0.45572	1.013000	0.39391	0.555000	0.69702	CGC	CRYGD	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000118231		0.562	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGD	HGNC	protein_coding	OTTHUMT00000256476.2	-	0	54	0	G	NM_006891		208986573	-1	tier1	-	no_errors	ENST00000264376	ensembl	human	known	74_37	missense	38.46	23	15	SNP	0.722	C	C	208986573	G	C	208986573	3	2	145	1	0	0	0	0	1	0	0	0	3924	1116	39	5	179	5	CRYGD	2	208986573	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	11336960	208986573	34212800	54	36839											
KAT2B	8850	genome.wustl.edu	37	chr3	20178458	20178458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaacacacctgatgaatCatttgaaagaatatcacata	18	10	6	7	0	2	4	2	3	0	1	2	5	2	5	1	1	1	0	1	1	6	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr3:20178458C>A	ENST00000263754.4	+	12	2229	c.1774C>A	c.(1774-1776)Cat>Aat	p.H592N	MIR3135A_ENST00000578460.1_RNA	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	592	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)	p.H592Y(1)		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						CCTGATGAATCATTTGAAAGA	0.358																																																	1	Substitution - Missense(1)	skin(1)											127	110	116					3																	20178458		2203	4300	6503	SO:0001583	missense	0			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.1774C>A	3.37:g.20178458C>A	ENSP00000263754:p.His592Asn		Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.H592N	ENST00000263754.4	37	c.1774	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.113637	0.94339	.	.	ENSG00000114166	ENST00000263754	T	0.25579	1.79	5.66	5.66	0.87406	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69997	-0.4993	10	0.87932	D	0	-21.8842	20.1253	0.97977	0.0:1.0:0.0:0.0	.	592	Q92831	KAT2B_HUMAN	N	592	ENSP00000263754:H592N	ENSP00000263754:H592N	H	+	1	0	KAT2B	20153462	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	CAT	KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000114166		0.358	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1		0	33	0	C	NM_003884		20178458	1			no_errors	ENST00000263754	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	A	A	20178458	C	A	20178458	3	1	145	1	0	0	0	0	1	0	0	0	8009	826	29	3	1820	3	KAT2B	3	20178458	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09		20178458	177843972	55	36840											
TOP2B	7155	genome.wustl.edu	37	chr3	25651062	25651062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctataatcatttctcaccagGctccttcttctccctcttag	7	16	3	15	0	5	0	2	0	4	0	8	0	6	0	3	1	0	1	3	1	3	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr3:25651062G>T	ENST00000264331.4	-	29	3927	c.3928C>A	c.(3928-3930)Cct>Act	p.P1310T	TOP2B_ENST00000542520.1_Missense_Mutation_p.P162T|TOP2B_ENST00000475717.1_5'Flank|TOP2B_ENST00000435706.2_Missense_Mutation_p.P1305T|TOP2B_ENST00000540199.1_Missense_Mutation_p.P162T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1310					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)	TTCTCACCAGGCTCCTTCTTC	0.388																																																	0													59	52	54					3																	25651062		1844	4090	5934	SO:0001583	missense	0			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.3928C>A	3.37:g.25651062G>T	ENSP00000264331:p.Pro1310Thr		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.P1310T	ENST00000264331.4	37	c.3928		3	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309920	0.60414	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.50001	0.76;0.99;0.99;0.76	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	L	0.52126	1.63	0.80722	D	1	P;P	0.40398	0.594;0.716	B;B	0.39840	0.164;0.311	T	0.46610	-0.9179	10	0.46703	T	0.11	.	19.4672	0.94948	0.0:0.0:1.0:0.0	.	1310;1305	Q02880;Q02880-2	TOP2B_HUMAN;.	T	162;1305;1310;162	ENSP00000446023:P162T;ENSP00000396704:P1305T;ENSP00000264331:P1310T;ENSP00000437352:P162T	ENSP00000264331:P1310T	P	-	1	0	TOP2B	25626066	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.278000	0.89899	2.700000	0.92200	0.585000	0.79938	CCT	TOP2B	-	NULL	ENSG00000077097		0.388	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		-	0	47	0	G			25651062	-1	tier1	-	no_errors	ENST00000264331	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T	T	25651062	G	T	25651062	3	4	145	1	0	0	0	0	1	0	0	0	16414	1203	42	3	984	3	TOP2B	3	25651062	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	5472604	25651062	172371368	56	36841											
CTNNB1	1499	genome.wustl.edu	37	chr3	41266100	41266100	+	Missense_Mutation	SNP	T	T	G	0	1	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	agcaacagtcttacctggacTctggaatccattctggtgcc	9	11	9	12	0	3	0	0	0	3	0	4	2	4	2	3	3	4	1	3	3	3	2	rs121913416		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr3:41266100T>G	ENST00000349496.5	+	3	377	c.97T>G	c.(97-99)Tct>Gct	p.S33A	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> F (in PTR, MDB and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> L (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:9065402}.		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)	p.A5_A80del(53)|p.S33P(47)|p.S33A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_D32del(4)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.D32_S33insS(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.S33T(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	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)		TTACCTGGACTCTGGAATCCA	0.488		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"	212	Deletion - In frame(115)|Substitution - Missense(70)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)|Insertion - In frame(1)	liver(130)|large_intestine(20)|endometrium(14)|stomach(10)|pituitary(9)|pancreas(9)|central_nervous_system(8)|adrenal_gland(2)|small_intestine(2)|biliary_tract(2)|skin(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|breast(1)											93	77	82					3																	41266100		2203	4300	6503	SO:0001583	missense	0	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.97T>G	3.37:g.41266100T>G	ENSP00000344456:p.Ser33Ala		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.S33A	ENST00000349496.5	37	c.97	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317386	0.81469	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74509	-0.3642	10	0.87932	D	0	-10.7796	16.0677	0.80897	0.0:0.0:0.0:1.0	.	33	P35222	CTNB1_HUMAN	A	26;33;33;33;33;26;33;33;33	ENSP00000400508:S26A;ENSP00000385604:S33A;ENSP00000412219:S33A;ENSP00000379486:S33A;ENSP00000344456:S33A;ENSP00000411226:S26A;ENSP00000379488:S33A;ENSP00000409302:S33A;ENSP00000401599:S33A	ENSP00000344456:S33A	S	+	1	0	CTNNB1	41241104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.201000	0.70794	0.533000	0.62120	TCT	CTNNB1	-	NULL	ENSG00000168036		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	-	0	30	0	T	NM_001098210		41266100	1	tier1	-	no_errors	ENST00000349496	ensembl	human	known	74_37	missense	50.00	8	8	SNP	1.000	G	G	41266100	T	G	41266100	3	3	145	1	0	0	0	0	1	0	0	0	4025	1551	54	4	103	4	CTNNB1	3	41266100	Missense_Mutation	SNP	T	TCGA-R6-A6XQ-01B-11D-A33E-09	15615038	41266100	156756330	57	36842											
CCR2	729230	genome.wustl.edu	37	chr3	46401261	46401261	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaagaatgtgaaagtGactacacaaggactcctcga	16	6	10	9	1	0	3	0	2	0	1	2	6	1	5	2	2	1	0	2	2	5	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr3:46401261G>T	ENST00000400888.2	+	2	1074	c.1035G>T	c.(1033-1035)gtG>gtT	p.V345V	CCR2_ENST00000292301.4_Silent_p.V345V			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	345					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)		ATGTGAAAGTGACTACACAAG	0.498																																																	0													122	110	114					3																	46401261		1568	3582	5150	SO:0001819	synonymous_variant	0				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.1035G>T	3.37:g.46401261G>T			A0AVQ3|B2RMT0|Q4VBL2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2	p.V345	ENST00000400888.2	37	c.1035	CCDS43078.1	3																																																																																			CCR2	-	NULL	ENSG00000121807		0.498	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCR2	HGNC	protein_coding	OTTHUMT00000344292.1	-	0	35	0	G	NM_000647		46401261	1	tier1	-	no_errors	ENST00000292301	ensembl	human	known	74_37	silent	51.52	16	17	SNP	0.001	T	T	46401261	G	T	46401261	2	4	145	1	0	0	0	0	0	0	0	1	2948	1277	45	3		3	CCR2	3	46401261	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	5135161	46401261	151621169	58	36843											
CNTN3	5067	genome.wustl.edu	37	chr3	74350588	74350588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttctgagggtaaacttgGttctccacctccaattttgt	7	18	7	9	0	2	1	0	1	2	0	4	1	3	1	3	2	1	2	3	2	3	7			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr3:74350588G>T	ENST00000263665.6	-	15	2083	c.2056C>A	c.(2056-2058)Cca>Aca	p.P686T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	686	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGTAAACTTGGTTCTCCACCT	0.408																																																	0													135	133	134					3																	74350588		2203	4300	6503	SO:0001583	missense	0			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.2056C>A	3.37:g.74350588G>T	ENSP00000263665:p.Pro686Thr		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P686T	ENST00000263665.6	37	c.2056	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764304	0.89932	.	.	ENSG00000113805	ENST00000263665	T	0.57273	0.41	6.08	6.08	0.98989	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89707	0.3909	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	686	Q9P232	CNTN3_HUMAN	T	686	ENSP00000263665:P686T	ENSP00000263665:P686T	P	-	1	0	CNTN3	74433278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.107000	0.94261	2.894000	0.99253	0.591000	0.81541	CCA	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.408	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1		0	69	0	G	NM_020872		74350588	-1			no_errors	ENST00000263665	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	74350588	G	T	74350588	3	4	145	1	0	0	0	0	1	0	0	0	3649	1261	44	3	1062	3	CNTN3	3	74350588	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	27949327	74350588	123671842	59	36844											
GUCA1C	9626	genome.wustl.edu	37	chr3	108639294	108639294	+	Frame_Shift_Del	DEL	C	C	-																															ttcacttaccatgaacatgtCcagtagttcatttttgtcaa																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr3:108639294delC	ENST00000261047.3	-	2	475	c.343delG	c.(343-345)gacfs	p.D115fs	GUCA1C_ENST00000393963.3_Frame_Shift_Del_p.D115fs|GUCA1C_ENST00000471108.1_Frame_Shift_Del_p.D115fs	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						ATGAACATGTCCAGTAGTTCA	0.353																																					NSCLC(157;1360 1999 30631 40189 44208)												0													112	113	112					3																	108639294		2203	4299	6502	SO:0001589	frameshift_variant	0			AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"EF-hand domain containing"	4680	protein-coding gene	gene with protein product	"guanylyl cyclase-activating protein 3"	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.343delG	3.37:g.108639294delC	ENSP00000261047:p.Asp115fs		O95844|Q9UNM0	Frame_Shift_Del	DEL	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.D115fs	ENST00000261047.3	37	c.343	CCDS2954.1	3																																																																																			GUCA1C	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000138472		0.353	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA1C	HGNC	protein_coding	OTTHUMT00000353819.1		0	63	0	C	NM_005459		108639294	-1	tier1		no_errors	ENST00000261047	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	0.973	-	-	108639294	C	-	108639294	7	5	145	1	0	1	0	1	0	0	0	0	6917	855	30	0	298	0	GUCA1C	3	108639294	Frame_Shift_Del	DEL	C	TCGA-R6-A6XQ-01B-11D-A33E-09	34288706	108639294	89383136	60	36845											
FAM162A	26355	genome.wustl.edu	37	chr3	122121729	122121729	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcccggagctccatccCgtaagtttttattttttcta	9	16	6	10	2	1	0	0	0	1	0	4	1	4	1	3	1	1	3	3	1	4	8	rs199578714		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr3:122121729C>A	ENST00000477892.1	+	2	241	c.157C>A	c.(157-159)Cgc>Agc	p.R53S	FAM162A_ENST00000469967.1_Splice_Site_p.R53S|FAM162A_ENST00000232125.5_Splice_Site_p.R43S	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	53					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						AGCTCCATCCCGTAAGTTTTT	0.383																																																	0													67	64	65					3																	122121729		1812	4069	5881	SO:0001630	splice_region_variant	0			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.157+1C>A	3.37:g.122121729C>A			Q9NRN6|Q9UJX8	Missense_Mutation	SNP	pfam_DUF1075	p.R53S	ENST00000477892.1	37	c.157	CCDS43139.1	3	.	.	.	.	.	.	.	.	.	.	C	9.824	1.186505	0.21870	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967	T;T;T	0.28255	1.62;1.62;1.62	4.98	-1.9	0.07665	.	1.849220	0.02440	N	0.084450	T	0.24661	0.0598	L	0.53249	1.67	0.26758	N	0.97007	B;B	0.15930	0.015;0.002	B;B	0.17098	0.017;0.003	T	0.06607	-1.0817	10	0.16896	T	0.51	.	1.1584	0.01800	0.2822:0.3922:0.1341:0.1914	.	53;53	E9PH05;Q96A26	.;F162A_HUMAN	S	43;53;53	ENSP00000232125:R43S;ENSP00000419088:R53S;ENSP00000419491:R53S	ENSP00000232125:R43S	R	+	1	0	FAM162A	123604419	0.086000	0.21541	0.912000	0.35992	0.982000	0.71751	-1.451000	0.02387	-0.628000	0.05582	0.650000	0.86243	CGC	FAM162A	-	pfam_DUF1075	ENSG00000114023		0.383	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM162A	HGNC	protein_coding	OTTHUMT00000355766.1		0	54	0	C	NM_014367	Missense_Mutation	122121729	1			no_errors	ENST00000477892	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.946	A	A	122121729	C	A	122121729	5	1	145	1	0	0	0	0	0	0	1	0	5493	666	23	2	163	2	FAM162A	3	122121729	Splice_Site	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	13482435	122121729	75900701	61	36846											
KPNA1	3836	genome.wustl.edu	37	chr3	122146488	122146488	+	Silent	SNP	A	A	T	1	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	ttttccaagccatttagggcAacctgtacaatcttagagtc	11	13	7	10	0	1	1	0	0	1	1	3	1	2	1	3	1	3	2	3	1	6	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr3:122146488A>T	ENST00000344337.6	-	13	1502	c.1326T>A	c.(1324-1326)gtT>gtA	p.V442V	RP11-299J3.8_ENST00000608015.1_RNA|KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	442					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)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.V442V(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CATTTAGGGCAACCTGTACAA	0.433																																					Melanoma(12;340 801 11196 19797)												1	Substitution - coding silent(1)	breast(1)											96	89	91					3																	122146488		2203	4300	6503	SO:0001819	synonymous_variant	0			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1326T>A	3.37:g.122146488A>T			D3DN93|Q6IBQ9|Q9BQ56	Silent	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.V442	ENST00000344337.6	37	c.1326	CCDS3013.1	3																																																																																			KPNA1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000114030		0.433	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1		0	44	0	A	NM_002264		122146488	-1			no_errors	ENST00000344337	ensembl	human	known	74_37	silent	10.00	18	2	SNP	1.000	T	T	122146488	A	T	122146488	2	4	145	1	0	0	0	0	0	0	0	1	8456	117	5	5		5	KPNA1	3	122146488	Silent	SNP	A	TCGA-R6-A6XQ-01B-11D-A33E-09	24759	122146488	75875942	62	36847											
GAK	2580	genome.wustl.edu	37	chr4	862466	862466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgccggggaagctcCggcttccctgcaggagaggg	6	5	17	13	2	0	1	0	0	0	1	2	3	2	2	4	6	3	4	4	6	1	1	rs572190550		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr4:862466C>T	ENST00000314167.4	-	20	2366	c.2256G>A	c.(2254-2256)ccG>ccA	p.P752P	GAK_ENST00000511163.1_Silent_p.P673P|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	752					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)		GGGGAAGCTCCGGCTTCCCTG	0.692													C|||	1	0.000199681	0	0	5008	,	,		16266	0.001		0	False		,,,				2504	0																0													18	20	19					4																	862466		2139	4158	6297	SO:0001819	synonymous_variant	0			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.2256G>A	4.37:g.862466C>T			Q5U4P5|Q9BVY6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.P752	ENST00000314167.4	37	c.2256	CCDS3340.1	4																																																																																			GAK	-	NULL	ENSG00000178950		0.692	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1		0	114	0	C	NM_005255		862466	-1			no_errors	ENST00000314167	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.001	T	T	862466	C	T	862466	2	4	145	1	0	0	0	0	0	0	0	1	6220	639	23	1		1	GAK	4	862466	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09		862466	190291810	63	36848											
HTT	3064	genome.wustl.edu	37	chr4	3189472	3189472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatattgttctttctcGtattcaggagctctccttct	7	18	7	9	1	5	2	1	1	4	1	7	3	5	3	1	1	1	3	1	1	3	7			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr4:3189472G>T	ENST00000355072.5	+	39	5229	c.5084G>T	c.(5083-5085)cGt>cTt	p.R1695L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1695					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)	p.R1695H(1)		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)		GTTCTTTCTCGTATTCAGGAG	0.423																																																	1	Substitution - Missense(1)	endometrium(1)											191	175	180					4																	3189472		1840	4102	5942	SO:0001583	missense	0			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.5084G>T	4.37:g.3189472G>T	ENSP00000347184:p.Arg1695Leu		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.R1695L	ENST00000355072.5	37	c.5084	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008751	0.93346	.	.	ENSG00000197386	ENST00000355072	T	0.07688	3.17	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.00802	-1.1560	10	0.72032	D	0.01	.	19.7324	0.96188	0.0:0.0:1.0:0.0	.	1695	P42858	HD_HUMAN	L	1695	ENSP00000347184:R1695L	ENSP00000347184:R1695L	R	+	2	0	HTT	3159270	1.000000	0.71417	0.550000	0.28217	0.705000	0.40729	9.624000	0.98398	2.663000	0.90544	0.655000	0.94253	CGT	HTT	-	NULL	ENSG00000197386		0.423	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2		0	68	0	G	NM_002111		3189472	1			no_errors	ENST00000355072	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	3189472	G	T	3189472	3	4	145	1	0	0	0	0	1	0	0	0	7484	1145	40	2	5238	2	HTT	4	3189472	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	2327006	3189472	187964804	64	36849											
WFS1	7466	genome.wustl.edu	37	chr4	6304133	6304133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgactggcgcagcaccGtgcatggcgccgtgaagttc	8	6	14	13	5	0	1	0	1	0	0	1	2	0	1	2	2	3	5	2	2	1	1	rs71532874	byFrequency	TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr4:6304133G>T	ENST00000226760.1	+	8	2781	c.2611G>T	c.(2611-2613)Gtg>Ttg	p.V871L	WFS1_ENST00000503569.1_Missense_Mutation_p.V871L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	871			V -> M (in dbSNP:rs71532874). {ECO:0000269|PubMed:11709538, ECO:0000269|PubMed:15605410}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCGCAGCACCGTGCATGGCGC	0.617																																																	0			GRCh37	CM021367	WFS1	M	rs71532874						53	51	51					4																	6304133		2203	4300	6503	SO:0001583	missense	0			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2611G>T	4.37:g.6304133G>T	ENSP00000226760:p.Val871Leu		B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	NULL	p.V871L	ENST00000226760.1	37	c.2611	CCDS3386.1	4	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498658	0.44455	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.93247	-3.19;-3.19	4.68	4.68	0.58851	.	0.137530	0.49916	D	0.000134	D	0.87030	0.6076	N	0.19112	0.55	0.42153	D	0.991568	B	0.26400	0.148	B	0.23275	0.045	D	0.83726	0.0195	10	0.17832	T	0.49	-23.7543	16.7484	0.85479	0.0:0.0:1.0:0.0	.	871	O76024	WFS1_HUMAN	L	871;871;249	ENSP00000423337:V871L;ENSP00000226760:V871L	ENSP00000226760:V871L	V	+	1	0	WFS1	6355034	1.000000	0.71417	0.970000	0.41538	0.990000	0.78478	3.900000	0.56295	2.440000	0.82611	0.561000	0.74099	GTG	WFS1	-	NULL	ENSG00000109501		0.617	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	HGNC	protein_coding	OTTHUMT00000206863.1		0	47	0	G			6304133	1			no_errors	ENST00000226760	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.997	T	T	6304133	G	T	6304133	3	4	145	1	0	0	0	0	1	0	0	0	17409	1145	40	2	2637	2	WFS1	4	6304133	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3114661	6304133	184850143	65	36850											
ATP10D	57205	genome.wustl.edu	37	chr4	47538513	47538513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaatgttcccgagcctGatggacatatcatatcacca	11	13	6	11	1	3	1	3	1	0	0	4	3	4	2	3	1	1	1	3	1	3	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr4:47538513G>T	ENST00000273859.3	+	8	1344	c.1075G>T	c.(1075-1077)Gat>Tat	p.D359Y	ATP10D_ENST00000504445.1_Missense_Mutation_p.D359Y	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	359					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D359N(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCCCGAGCCTGATGGACATAT	0.343																																																	1	Substitution - Missense(1)	lung(1)											267	263	265					4																	47538513		2203	4300	6503	SO:0001583	missense	0			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.1075G>T	4.37:g.47538513G>T	ENSP00000273859:p.Asp359Tyr		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.D359Y	ENST00000273859.3	37	c.1075	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857567	0.51376	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.44881	0.91;3.92	5.46	5.46	0.80206	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000001	T	0.62466	0.2430	L	0.61387	1.9	0.45477	D	0.998443	P;P	0.50156	0.932;0.932	D;P	0.64321	0.924;0.889	T	0.63778	-0.6560	10	0.72032	D	0.01	-22.3925	18.3032	0.90171	0.0:0.0:1.0:0.0	.	359;359	Q9P241;Q6PEW3	AT10D_HUMAN;.	Y	359	ENSP00000273859:D359Y;ENSP00000420909:D359Y	ENSP00000273859:D359Y	D	+	1	0	ATP10D	47233270	0.589000	0.26807	0.926000	0.36857	0.003000	0.03518	1.640000	0.37186	2.577000	0.86979	0.655000	0.94253	GAT	ATP10D	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.343	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1		0	20	0	G	NM_020453		47538513	1			no_errors	ENST00000273859	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	T	T	47538513	G	T	47538513	3	4	145	1	0	0	0	0	1	0	0	0	1119	1290	45	3	1101	3	ATP10D	4	47538513	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	41234380	47538513	143615763	66	36851											
CORIN	10699	genome.wustl.edu	37	chr4	47605414	47605414	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggactaatacactggcttacTtttattgcccatgtggcccc	8	13	8	12	0	0	0	0	0	0	0	0	1	0	1	3	3	3	1	3	3	4	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr4:47605414T>G	ENST00000273857.4	-	20	2811	c.2812A>C	c.(2812-2814)Atg>Ctg	p.M938L	CORIN_ENST00000505909.1_Splice_Site_p.M901L|CORIN_ENST00000502252.1_Splice_Site_p.M871L|CORIN_ENST00000508498.1_Splice_Site_p.M799L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	938	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						aCTGGCTTACTTTTATTGCCC	0.478																																																	0													60	59	59					4																	47605414		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2812+1A>C	4.37:g.47605414T>G			B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.M938L	ENST00000273857.4	37	c.2812	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	T	9.341	1.062907	0.19987	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.8	4.63	0.57726	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.124306	0.64402	D	0.000001	T	0.74496	0.3724	N	0.03983	-0.305	0.80722	D	1	B;B	0.20261	0.036;0.043	B;B	0.23852	0.025;0.049	T	0.66232	-0.5975	9	.	.	.	.	11.6076	0.51041	0.0:0.0694:0.0:0.9306	.	871;938	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	L	938;799;871;901	ENSP00000273857:M938L;ENSP00000425597:M799L;ENSP00000424212:M871L;ENSP00000425401:M901L	.	M	-	1	0	CORIN	47300171	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.865000	0.62998	1.034000	0.39945	0.459000	0.35465	ATG	CORIN	-	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000145244		0.478	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	-	0	21	0	T		Missense_Mutation	47605414	-1	tier1	-	no_errors	ENST00000273857	ensembl	human	known	74_37	missense	100.00	0	7	SNP	1.000	G	G	47605414	T	G	47605414	5	3	145	1	0	0	0	0	0	0	1	0	3759	1623	56	4	328	4	CORIN	4	47605414	Splice_Site	SNP	T	TCGA-R6-A6XQ-01B-11D-A33E-09	66901	47605414	143548862	67	36852											
ENPEP	2028	genome.wustl.edu	37	chr4	111430838	111430838	+	Frame_Shift_Del	DEL	G	G	-																															ctattccagattttggcactGgtgccatggagaactgggga																								rs142050074		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr4:111430838delG	ENST00000265162.5	+	5	1411	c.1069delG	c.(1069-1071)ggtfs	p.G357fs	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	357	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)		TTTTGGCACTGGTGCCATGGA	0.418																																																	0													134	131	132					4																	111430838		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1069delG	4.37:g.111430838delG	ENSP00000265162:p.Gly357fs		Q504U2	Frame_Shift_Del	DEL	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G357fs	ENST00000265162.5	37	c.1069	CCDS3691.1	4																																																																																			ENPEP	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000138792		0.418	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2		0	96	0	G			111430838	1	tier1		no_errors	ENST00000265162	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-	-	111430838	G	-	111430838	7	5	145	1	0	1	0	1	0	0	0	0	5144	1348	47	0	1087	0	ENPEP	4	111430838	Frame_Shift_Del	DEL	G	TCGA-R6-A6XQ-01B-11D-A33E-09	63825424	111430838	79723438	68	36853											
PDE5A	8654	genome.wustl.edu	37	chr4	120528199	120528199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaccttggaggggttaGaggcatctgttccttctttt	8	15	10	8	0	3	1	1	0	2	1	4	2	4	2	2	4	1	3	2	4	2	6	rs201954719		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr4:120528199G>T	ENST00000354960.3	-	2	725	c.406C>A	c.(406-408)Cta>Ata	p.L136I	PDE5A_ENST00000394439.1_Missense_Mutation_p.L84I|PDE5A_ENST00000264805.5_Missense_Mutation_p.L94I	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	136					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GGAGGGGTTAGAGGCATCTGT	0.458																																																	0													112	106	108					4																	120528199		2203	4300	6503	SO:0001583	missense	0			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.406C>A	4.37:g.120528199G>T	ENSP00000347046:p.Leu136Ile		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.L136I	ENST00000354960.3	37	c.406	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887658	0.33348	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805;ENST00000420633	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.64	5.64	0.86602	.	0.478059	0.20039	N	0.100558	T	0.09247	0.0228	L	0.47716	1.5	0.39775	D	0.972228	B;P	0.41848	0.146;0.763	B;B	0.35770	0.119;0.21	T	0.19516	-1.0303	10	0.34782	T	0.22	.	14.871	0.70456	0.0704:0.0:0.9296:0.0	.	136;94	O76074;O76074-2	PDE5A_HUMAN;.	I	136;84;94;84	ENSP00000347046:L136I;ENSP00000377957:L84I;ENSP00000264805:L94I;ENSP00000416309:L84I	ENSP00000264805:L94I	L	-	1	2	PDE5A	120747647	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.066000	0.50002	2.659000	0.90383	0.655000	0.94253	CTA	PDE5A	-	NULL	ENSG00000138735		0.458	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	-	0	60	0	G	NM_001083		120528199	-1	tier1	-	no_errors	ENST00000354960	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	T	T	120528199	G	T	120528199	3	4	145	1	0	0	0	0	1	0	0	0	11683	933	33	3	2301	3	PDE5A	4	120528199	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	9097361	120528199	70626077	69	36854											
ANXA5	308	genome.wustl.edu	37	chr4	122593777	122593777	+	Frame_Shift_Del	DEL	A	A	-																															taagttctccagcctgaaatAaagcctgcaaaaatttcaaa																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr4:122593777delA	ENST00000296511.5	-	9	821	c.536delT	c.(535-537)ttafs	p.L179fs	ANXA5_ENST00000515017.1_Frame_Shift_Del_p.L79fs|ANXA5_ENST00000501272.2_Frame_Shift_Del_p.L119fs	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	179					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						AGCCTGAAATAAAGCCTGCAA	0.358																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)												0													63	62	62					4																	122593777		2203	4300	6503	SO:0001589	frameshift_variant	0			U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.536delT	4.37:g.122593777delA	ENSP00000296511:p.Leu179fs		D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Frame_Shift_Del	DEL	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV	p.L179fs	ENST00000296511.5	37	c.536	CCDS3720.1	4																																																																																			ANXA5	-	pfam_Annexin_repeat,prints_Annexin	ENSG00000164111		0.358	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA5	HGNC	protein_coding	OTTHUMT00000256636.2		0	36	0	A	NM_001154		122593777	-1	tier1		no_errors	ENST00000296511	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	0.995	-	-	122593777	A	-	122593777	7	5	145	1	0	1	0	1	0	0	0	0	721	372	13	0	446	0	ANXA5	4	122593777	Frame_Shift_Del	DEL	A	TCGA-R6-A6XQ-01B-11D-A33E-09	2065578	122593777	68560499	70	36855											
FAT4	79633	genome.wustl.edu	37	chr4	126411719	126411719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaagggaacccaaaacCagatatcattgaaagggaaa	18	5	10	8	0	1	3	1	2	0	1	1	5	1	5	3	2	2	0	3	2	7	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr4:126411719C>A	ENST00000394329.3	+	17	13755	c.13742C>A	c.(13741-13743)cCa>cAa	p.P4581Q	FAT4_ENST00000335110.5_Missense_Mutation_p.P2822Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4581					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						AACCCAAAACCAGATATCATT	0.468																																																	0													95	103	100					4																	126411719		2203	4300	6503	SO:0001583	missense	0			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.13742C>A	4.37:g.126411719C>A	ENSP00000377862:p.Pro4581Gln		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P4581Q	ENST00000394329.3	37	c.13742	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622555	0.46840	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.96300	-3.97;-2.55	4.95	4.95	0.65309	.	0.000000	0.34314	U	0.004065	D	0.97321	0.9124	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.98335	1.0535	10	0.87932	D	0	.	17.186	0.86867	0.0:1.0:0.0:0.0	.	2822;4581;4580	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Q	4581;2822	ENSP00000377862:P4581Q;ENSP00000335169:P2822Q	ENSP00000335169:P2822Q	P	+	2	0	FAT4	126631169	1.000000	0.71417	0.493000	0.27502	0.965000	0.64279	7.534000	0.82004	2.275000	0.75901	0.561000	0.74099	CCA	FAT4	-	NULL	ENSG00000196159		0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	79	0	C	NM_024582		126411719	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	A	A	126411719	C	A	126411719	3	1	145	1	0	0	0	0	1	0	0	0	5714	594	21	3	13808	3	FAT4	4	126411719	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	3817942	126411719	64742557	71	36856											
FHDC1	85462	genome.wustl.edu	37	chr4	153864387	153864387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgtccttcctcccctcctCcacccccaccacctccactt	5	10	2	24	0	0	0	0	0	0	0	6	0	6	0	11	0	0	0	11	0	0	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr4:153864387C>A	ENST00000511601.1	+	2	366	c.178C>A	c.(178-180)Cca>Aca	p.P60T	FHDC1_ENST00000260008.3_Missense_Mutation_p.P60T			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	60									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)					CTCCCCTCCTCCACCCCCACC	0.617																																																	0													54	39	44					4																	153864387		2203	4299	6502	SO:0001583	missense	0			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.178C>A	4.37:g.153864387C>A	ENSP00000427567:p.Pro60Thr			Missense_Mutation	SNP	pfam_FH2_Formin,smart_FH2_Formin	p.P60T	ENST00000511601.1	37	c.178	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	C	4.912	0.169548	0.09339	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.52754	0.65;0.65	4.64	3.8	0.43715	.	1.244620	0.05562	N	0.569539	T	0.45538	0.1347	L	0.59436	1.845	0.09310	N	0.999999	B	0.29988	0.264	B	0.24541	0.054	T	0.41233	-0.9520	10	0.72032	D	0.01	.	7.5901	0.28017	0.1628:0.7495:0.0:0.0877	.	60	Q9C0D6	FHDC1_HUMAN	T	60	ENSP00000427567:P60T;ENSP00000260008:P60T	ENSP00000260008:P60T	P	+	1	0	FHDC1	154083837	0.998000	0.40836	0.013000	0.15412	0.043000	0.13939	1.366000	0.34193	1.288000	0.44600	-0.253000	0.11424	CCA	FHDC1	-	NULL	ENSG00000137460		0.617	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	-	0	88	0	C	NM_033393		153864387	1	tier1	-	no_errors	ENST00000260008	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.017	A	A	153864387	C	A	153864387	3	1	145	1	0	0	0	0	1	0	0	0	5898	855	30	3	180	3	FHDC1	4	153864387	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	27452668	153864387	37289889	72	36857											
WDR17	116966	genome.wustl.edu	37	chr4	177072975	177072975	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccagtctgaagctcaaGaactaacaacagtcaagatg	19	6	7	9	0	3	3	2	1	1	2	3	3	3	3	1	0	5	1	1	0	8	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr4:177072975G>T	ENST00000280190.4	+	18	2545	c.2389G>T	c.(2389-2391)Gaa>Taa	p.E797*	WDR17_ENST00000393643.2_Nonsense_Mutation_p.E773*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.E780*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.E773*			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	797										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)		TGAAGCTCAAGAACTAACAAC	0.318																																																	0													92	93	93					4																	177072975		2203	4300	6503	SO:0001587	stop_gained	0			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.2389G>T	4.37:g.177072975G>T	ENSP00000280190:p.Glu797*		E7EQX0|Q0QD35	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E797*	ENST00000280190.4	37	c.2389	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	9.137389|9.137389	0.99078|0.99078	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76543	.|0.4002	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74928	.|-0.3497	.|3	0.72032|.	D|.	0.01|.	-33.1868|-33.1868	19.5608|19.5608	0.95371|0.95371	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	773;773;797;780|39	.|.	ENSP00000280190:E797X|.	E|R	+|+	1|2	0|0	WDR17|WDR17	177309969|177309969	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.936000|0.936000	0.57629|0.57629	9.357000|9.357000	0.97099|0.97099	2.631000|2.631000	0.89168|0.89168	0.549000|0.549000	0.68633|0.68633	GAA|AGA	WDR17	-	NULL	ENSG00000150627		0.318	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2		0	45	0	G			177072975	1			no_errors	ENST00000280190	ensembl	human	known	74_37	nonsense	25.00	6	2	SNP	1.000	T	T	177072975	G	T	177072975	4	4	145	1	0	0	0	0	0	1	0	0	17326	943	33	3	2455	3	WDR17	4	177072975	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	23208588	177072975	14081301	73	36858											
MTNR1A	4543	genome.wustl.edu	37	chr4	187455160	187455160	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccagcaaatggcaaaaaGgacaaaaaccacaaacatgg	21	2	8	10	0	0	0	0	0	0	0	0	1	0	1	2	3	4	2	2	3	6	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr4:187455160G>C	ENST00000307161.5	-	2	937	c.736C>G	c.(736-738)Ctt>Gtt	p.L246V	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	246					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ATGGCAAAAAGGACAAAAACC	0.537																																																	0													115	123	120					4																	187455160		2203	4300	6503	SO:0001583	missense	0				CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.736C>G	4.37:g.187455160G>C	ENSP00000302811:p.Leu246Val		A0AVC5|B0M0L2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C	p.L246V	ENST00000307161.5	37	c.736	CCDS3848.1	4	.	.	.	.	.	.	.	.	.	.	G	10.22	1.288936	0.23478	.	.	ENSG00000168412	ENST00000307161	T	0.68903	-0.36	4.96	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.062425	0.64402	D	0.000003	T	0.62036	0.2395	L	0.41124	1.26	0.80722	D	1	B	0.20671	0.047	B	0.31390	0.129	T	0.61252	-0.7100	10	0.62326	D	0.03	-12.0301	14.471	0.67517	0.0:0.0:0.8515:0.1485	.	246	P48039	MTR1A_HUMAN	V	246	ENSP00000302811:L246V	ENSP00000302811:L246V	L	-	1	0	MTNR1A	187692154	1.000000	0.71417	0.473000	0.27253	0.063000	0.16089	6.577000	0.74027	1.044000	0.40200	0.655000	0.94253	CTT	MTNR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000168412		0.537	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1A	HGNC	protein_coding	OTTHUMT00000360189.1	-	0	31	0	G			187455160	-1	tier1	-	no_errors	ENST00000307161	ensembl	human	known	74_37	missense	55.56	4	5	SNP	0.995	C	C	187455160	G	C	187455160	3	2	145	1	0	0	0	0	1	0	0	0	9989	1000	35	5	320	5	MTNR1A	4	187455160	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	10382185	187455160	3699116	74	36859											
IRX1	79192	genome.wustl.edu	37	chr5	3600242	3600242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgcgctccttcctgggcGttggcgctccccacgccgcg	3	8	12	18	6	0	0	0	0	0	0	3	0	3	0	5	2	1	3	5	2	0	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr5:3600242G>A	ENST00000302006.3	+	2	1232	c.1180G>A	c.(1180-1182)Gtt>Att	p.V394I	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	394					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTTCCTGGGCGTTGGCGCTCC	0.657																																																	0													48	47	47					5																	3600242		2202	4300	6502	SO:0001583	missense	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1180G>A	5.37:g.3600242G>A	ENSP00000305244:p.Val394Ile		Q7Z2F8|Q8N312	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.V394I	ENST00000302006.3	37	c.1180	CCDS34132.1	5	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149723	0.37923	.	.	ENSG00000170549	ENST00000302006	T	0.59502	0.26	4.17	4.17	0.49024	.	0.145888	0.44285	D	0.000476	T	0.70395	0.3219	L	0.57536	1.79	0.52099	D	0.999947	D	0.76494	0.999	D	0.72982	0.979	T	0.67711	-0.5600	10	0.22706	T	0.39	.	16.4849	0.84182	0.0:0.0:1.0:0.0	.	394	P78414	IRX1_HUMAN	I	394	ENSP00000305244:V394I	ENSP00000305244:V394I	V	+	1	0	IRX1	3653242	1.000000	0.71417	0.818000	0.32626	0.004000	0.04260	7.072000	0.76777	1.834000	0.53371	0.467000	0.42956	GTT	IRX1	-	NULL	ENSG00000170549		0.657	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	-	0	32	0	G	NM_024337		3600242	1	tier1	-	no_errors	ENST00000302006	ensembl	human	known	74_37	missense	65.38	9	17	SNP	1.000	A	A	3600242	G	A	3600242	3	1	145	1	0	0	0	0	1	0	0	0	7870	1145	40	1	1186	1	IRX1	5	3600242	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		3600242	177315018	75	36860											
FAM105A	54491	genome.wustl.edu	37	chr5	14607502	14607502	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtacagttttggtcctGagaagtatacaggctcgaat	12	11	11	7	1	0	1	0	1	0	1	2	3	1	1	1	2	3	5	1	2	5	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr5:14607502G>T	ENST00000274217.3	+	6	682	c.562G>T	c.(562-564)Gag>Tag	p.E188*		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	188	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TTTTGGTCCTGAGAAGTATAC	0.378																																																	0													145	146	146					5																	14607502		2203	4300	6503	SO:0001587	stop_gained	0				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.562G>T	5.37:g.14607502G>T	ENSP00000274217:p.Glu188*		Q53H50|Q9H037	Nonsense_Mutation	SNP	prints_FAM105,prints_FAM105A	p.E188*	ENST00000274217.3	37	c.562	CCDS3884.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.573827	0.96553	.	.	ENSG00000145569	ENST00000274217	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-30.3016	19.7398	0.96223	0.0:0.0:1.0:0.0	.	.	.	.	X	188	.	ENSP00000274217:E188X	E	+	1	0	FAM105A	14660502	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.744000	0.74854	2.660000	0.90430	0.655000	0.94253	GAG	FAM105A	-	prints_FAM105A	ENSG00000145569		0.378	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	HGNC	protein_coding	OTTHUMT00000253710.1	-	0	88	0	G	NM_019018		14607502	1	tier1	-	no_errors	ENST00000274217	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	T	T	14607502	G	T	14607502	4	4	145	1	0	0	0	0	0	1	0	0	5406	1291	45	3	584	3	FAM105A	5	14607502	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	11007260	14607502	166307758	76	36861											
RXFP3	51289	genome.wustl.edu	37	chr5	33937128	33937128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgggtggtgtgcgccctgGggttggcgggcaacctgctg	3	9	19	10	2	0	0	0	0	0	0	0	0	0	0	2	6	3	3	2	6	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr5:33937128G>T	ENST00000330120.3	+	1	638	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	95					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						GTGCGCCCTGGGGTTGGCGGG	0.652																																																	0													75	75	75					5																	33937128		2203	4300	6503	SO:0001583	missense	0			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.283G>T	5.37:g.33937128G>T	ENSP00000328708:p.Gly95Trp		Q14DA5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.G95W	ENST00000330120.3	37	c.283	CCDS3900.1	5	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487592	0.84854	.	.	ENSG00000182631	ENST00000330120	T	0.53857	0.6	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.64649	0.2617	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67550	-0.5642	10	0.87932	D	0	-30.3042	19.5993	0.95554	0.0:0.0:1.0:0.0	.	95	Q9NSD7	RL3R1_HUMAN	W	95	ENSP00000328708:G95W	ENSP00000328708:G95W	G	+	1	0	RXFP3	33972885	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.911000	0.87458	2.704000	0.92352	0.655000	0.94253	GGG	RXFP3	-	prints_GPCR_Rhodpsn	ENSG00000182631		0.652	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP3	HGNC	protein_coding	OTTHUMT00000207369.1	-	0	59	0	G	NM_016568		33937128	1	tier1	-	no_errors	ENST00000330120	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	33937128	G	T	33937128	3	4	145	1	0	0	0	0	1	0	0	0	13806	1232	43	3	285	3	RXFP3	5	33937128	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	19329626	33937128	146978132	77	36862											
SNCAIP	9627	genome.wustl.edu	37	chr5	121786373	121786373	+	Frame_Shift_Del	DEL	G	G	-																															ccagccgggctagacccaaaGcaaaagatgaagattctgat																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr5:121786373delG	ENST00000261368.8	+	10	2093	c.1831delG	c.(1831-1833)gcafs	p.A611fs	CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Frame_Shift_Del_p.A551fs|SNCAIP_ENST00000261367.7_Frame_Shift_Del_p.A658fs|SNCAIP_ENST00000414317.2_Frame_Shift_Del_p.A213fs|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000542191.1_Frame_Shift_Del_p.A169fs|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379533.2_Frame_Shift_Del_p.A658fs|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Frame_Shift_Del_p.A245fs|SNCAIP_ENST00000504884.2_3'UTR	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	611					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)		TAGACCCAAAGCAAAAGATGA	0.463																																																	0													60	70	67					5																	121786373		2202	4300	6502	SO:0001589	frameshift_variant	0			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.1831delG	5.37:g.121786373delG	ENSP00000261368:p.Ala611fs		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A658fs	ENST00000261368.8	37	c.1972	CCDS4131.1	5																																																																																			SNCAIP	-	NULL	ENSG00000064692		0.463	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1		0	52	0	G			121786373	1	tier1		no_errors	ENST00000379533	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	0.838	-	-	121786373	G	-	121786373	7	5	145	1	0	1	0	1	0	0	0	0	14886	971	34	0	1865	0	SNCAIP	5	121786373	Frame_Shift_Del	DEL	G	TCGA-R6-A6XQ-01B-11D-A33E-09	87849245	121786373	59128887	78	36863											
FNIP1	96459	genome.wustl.edu	37	chr5	131008399	131008399	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggacatactctgattCttctatttcacctttctcta	10	16	4	11	0	5	1	1	1	4	0	6	3	5	2	1	1	1	0	1	1	4	7			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr5:131008399C>A	ENST00000510461.1	-	14	1833	c.1738G>T	c.(1738-1740)Gaa>Taa	p.E580*	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Nonsense_Mutation_p.E535*|FNIP1_ENST00000307968.7_Nonsense_Mutation_p.E552*	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	580					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)	p.E580K(1)		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)		TACTCTGATTCTTCTATTTCA	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											164	154	157					5																	131008399		2203	4300	6503	SO:0001587	stop_gained	0			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.1738G>T	5.37:g.131008399C>A	ENSP00000421985:p.Glu580*		D6RJH5|Q86T47|Q9BUT0	Nonsense_Mutation	SNP	NULL	p.E580*	ENST00000510461.1	37	c.1738	CCDS34227.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.672632	0.96754	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-11.0845	20.126	0.97982	0.0:1.0:0.0:0.0	.	.	.	.	X	552;535;340;580	.	ENSP00000310453:E535X	E	-	1	0	FNIP1	131036298	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.749000	0.94314	0.655000	0.94253	GAA	FNIP1	-	NULL	ENSG00000217128		0.353	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	HGNC	protein_coding	OTTHUMT00000370077.1		0	42	0	C	NM_133372		131008399	-1			no_errors	ENST00000510461	ensembl	human	known	74_37	nonsense	10.00	18	2	SNP	1.000	A	A	131008399	C	A	131008399	4	1	145	1	0	0	0	0	0	1	0	0	5997	922	32	3	1782	3	FNIP1	5	131008399	Nonsense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	9222026	131008399	49906861	79	36864											
IK	3550	genome.wustl.edu	37	chr5	140037180	140037180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgacattgtcattagcaaGctgacccagatcctttcata	13	12	6	10	0	2	3	2	2	0	1	3	3	3	3	2	0	2	2	2	0	4	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr5:140037180G>T	ENST00000417647.2	+	10	982	c.843G>T	c.(841-843)aaG>aaT	p.K281N		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	281					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)			TCATTAGCAAGCTGACCCAGA	0.438																																																	0													153	137	142					5																	140037180		1929	4147	6076	SO:0001583	missense	0			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.843G>T	5.37:g.140037180G>T	ENSP00000396301:p.Lys281Asn		Q6IPD8	Missense_Mutation	SNP	pfam_RED_N,pfam_RED_C	p.K281N	ENST00000417647.2	37	c.843	CCDS47280.1	5	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903970	0.72754	.	.	ENSG00000113141	ENST00000417647	.	.	.	5.48	4.61	0.57282	RED-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81327	0.4799	M	0.90814	3.15	0.58432	D	0.999999	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.981	D	0.84567	0.0653	9	0.87932	D	0	.	11.438	0.50078	0.1473:0.0:0.8527:0.0	.	281;281	Q9UK43;Q13123	.;RED_HUMAN	N	281	.	ENSP00000396301:K281N	K	+	3	2	IK	140017364	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.071000	0.41500	1.451000	0.47736	-0.140000	0.14226	AAG	IK	-	pfam_RED_N	ENSG00000113141		0.438	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	IK	HGNC	protein_coding	OTTHUMT00000372897.1	-	0	70	0	G	NM_006083		140037180	1	tier1	-	no_errors	ENST00000417647	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	140037180	G	T	140037180	3	4	145	1	0	0	0	0	1	0	0	0	7635	962	34	3	881	3	IK	5	140037180	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	9028781	140037180	40878080	80	36865											
PCDHB14	56122	genome.wustl.edu	37	chr5	140605202	140605202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcggtgctcctgttcGtggcggtgcggctgtgcagg	1	13	16	11	4	2	0	0	0	2	0	5	0	3	0	1	5	3	4	1	5	0	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr5:140605202G>A	ENST00000239449.4	+	1	2125	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	PCDHB14_ENST00000515856.2_Missense_Mutation_p.V556M	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	709					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGTTCGTGGCGGTGCG	0.706																																					Ovarian(141;50 1831 27899 33809 37648)												0													72	87	82					5																	140605202		2188	4265	6453	SO:0001583	missense	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2125G>A	5.37:g.140605202G>A	ENSP00000239449:p.Val709Met		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V709M	ENST00000239449.4	37	c.2125	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	17.07	3.294546	0.60086	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.15256	2.44;2.44	4.36	3.19	0.36642	.	.	.	.	.	T	0.35885	0.0947	H	0.97131	3.945	0.09310	N	1	D	0.54964	0.969	P	0.45232	0.474	T	0.50250	-0.8850	9	0.72032	D	0.01	.	6.8628	0.24076	0.1342:0.0:0.697:0.1688	.	709	Q9Y5E9	PCDBE_HUMAN	M	556;709	ENSP00000444518:V556M;ENSP00000239449:V709M	ENSP00000239449:V709M	V	+	1	0	PCDHB14	140585386	0.000000	0.05858	0.119000	0.21687	0.415000	0.31203	0.262000	0.18460	2.127000	0.65507	0.650000	0.86243	GTG	PCDHB14	-	NULL	ENSG00000120327		0.706	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0	115	0	G	NM_018934		140605202	1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	missense	24.24	50	16	SNP	0.004	A	A	140605202	G	A	140605202	3	1	145	1	0	0	0	0	1	0	0	0	11578	1145	40	1	2127	1	PCDHB14	5	140605202	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	568022	140605202	40310058	81	36866											
RBM27	54439	genome.wustl.edu	37	chr5	145651199	145651199	+	Frame_Shift_Del	DEL	A	A	-																															cactaacagttggaggattcAttgaggaagaaaaagaagac																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr5:145651199delA	ENST00000265271.5	+	19	3116	c.2950delA	c.(2950-2952)attfs	p.I984fs	RBM27_ENST00000506502.1_Frame_Shift_Del_p.I929fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	984					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)			TGGAGGATTCATTGAGGAAGA	0.448																																																	0													134	129	131					5																	145651199		1568	3582	5150	SO:0001589	frameshift_variant	0			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.2950delA	5.37:g.145651199delA	ENSP00000265271:p.Ile984fs		Q8IYW9	Frame_Shift_Del	DEL	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.I984fs	ENST00000265271.5	37	c.2950	CCDS43378.1	5																																																																																			RBM27	-	NULL	ENSG00000091009		0.448	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1		0	41	0	A	XM_291128		145651199	1	tier1		no_errors	ENST00000265271	ensembl	human	known	74_37	frame_shift_del	13.33	13	2	DEL	0.297	-	-	145651199	A	-	145651199	7	5	145	1	0	1	0	1	0	0	0	0	13172	217	8	0	3024	0	RBM27	5	145651199	Frame_Shift_Del	DEL	A	TCGA-R6-A6XQ-01B-11D-A33E-09	5045997	145651199	35264061	82	36867											
AFAP1L1	134265	genome.wustl.edu	37	chr5	148687091	148687091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcacctggtgagggaatGcaggatatgtgccttcctgc	8	10	13	10	0	0	1	0	1	0	0	1	3	1	3	3	3	4	2	3	3	2	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr5:148687091G>T	ENST00000296721.4	+	7	760	c.662G>T	c.(661-663)tGc>tTc	p.C221F	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.C221F|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	221	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGGGAATGCAGGATATGT	0.607																																																	0													78	65	70					5																	148687091		2203	4300	6503	SO:0001583	missense	0			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.662G>T	5.37:g.148687091G>T	ENSP00000296721:p.Cys221Phe		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.C221F	ENST00000296721.4	37	c.662	CCDS34274.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218671	0.79464	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.11063	2.81;2.81	4.89	4.89	0.63831	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.043965	0.85682	D	0.000000	T	0.33411	0.0862	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.83275	0.989;0.948;0.996	T	0.04840	-1.0923	10	0.87932	D	0	-28.3548	18.243	0.89974	0.0:0.0:1.0:0.0	.	221;221;221	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	F	221	ENSP00000296721:C221F;ENSP00000424427:C221F	ENSP00000296721:C221F	C	+	2	0	AFAP1L1	148667284	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.447000	0.73465	2.543000	0.85770	0.561000	0.74099	TGC	AFAP1L1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000157510		0.607	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1		0	73	0	G	NM_152406		148687091	1			no_errors	ENST00000296721	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	148687091	G	T	148687091	3	4	145	1	0	0	0	0	1	0	0	0	354	1319	46	3	688	3	AFAP1L1	5	148687091	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3035892	148687091	32228169	83	36868											
FAT2	2196	genome.wustl.edu	37	chr5	150945577	150945577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtcatcaggtccacccgGaaggtcccatgggcgccatc	7	7	11	16	2	2	0	2	0	0	0	5	1	4	1	5	4	0	0	5	4	1	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr5:150945577G>T	ENST00000261800.5	-	1	2928	c.2916C>A	c.(2914-2916)ttC>ttA	p.F972L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	972	Cadherin 8. {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)			GGTCCACCCGGAAGGTCCCAT	0.597																																																	0													46	49	48					5																	150945577		2203	4300	6503	SO:0001583	missense	0			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.2916C>A	5.37:g.150945577G>T	ENSP00000261800:p.Phe972Leu		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.F972L	ENST00000261800.5	37	c.2916	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208516	0.58343	.	.	ENSG00000086570	ENST00000261800	T	0.70749	-0.51	5.39	4.52	0.55395	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.86112	0.5855	M	0.93241	3.395	0.50171	D	0.999854	D	0.76494	0.999	D	0.87578	0.998	D	0.87830	0.2644	10	0.66056	D	0.02	.	9.4676	0.38822	0.216:0.0:0.784:0.0	.	972	Q9NYQ8	FAT2_HUMAN	L	972	ENSP00000261800:F972L	ENSP00000261800:F972L	F	-	3	2	FAT2	150925770	0.967000	0.33354	0.995000	0.50966	0.981000	0.71138	1.854000	0.39368	2.523000	0.85059	0.561000	0.74099	TTC	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.597	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	24	0	G	NM_001447		150945577	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	57.69	11	15	SNP	0.701	T	T	150945577	G	T	150945577	3	4	145	1	0	0	0	0	1	0	0	0	5712	1165	41	3	10225	3	FAT2	5	150945577	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	2258486	150945577	29969683	84	36869											
CLINT1	9685	genome.wustl.edu	37	chr5	157236744	157236744	+	Frame_Shift_Del	DEL	G	G	-																															cacctaatttatcactgaatGgaaaagcactcttgttttta																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr5:157236744delG	ENST00000411809.2	-	6	791	c.587delC	c.(586-588)ccafs	p.P196fs	CLINT1_ENST00000296951.5_Frame_Shift_Del_p.P178fs|CLINT1_ENST00000523908.1_Frame_Shift_Del_p.P196fs|CLINT1_ENST00000523094.1_Frame_Shift_Del_p.P178fs|RNU6-260P_ENST00000384092.1_RNA|CLINT1_ENST00000530742.1_Frame_Shift_Del_p.P178fs	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	196					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)			ATCACTGAATGGAAAAGCACT	0.388																																					Colon(22;427 587 2170 6147 14291)												0													152	140	144					5																	157236744		1865	4100	5965	SO:0001589	frameshift_variant	0			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.587delC	5.37:g.157236744delG	ENSP00000388340:p.Pro196fs		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Frame_Shift_Del	DEL	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.P178fs	ENST00000411809.2	37	c.533	CCDS47330.1	5																																																																																			CLINT1	-	NULL	ENSG00000113282		0.388	CLINT1-001	KNOWN	basic|CCDS	protein_coding	CLINT1	HGNC	protein_coding	OTTHUMT00000374001.1		0	33	0	G	NM_014666		157236744	-1	tier1		no_errors	ENST00000296951	ensembl	human	known	74_37	frame_shift_del	20.00	8	2	DEL	1.000	-	-	157236744	G	-	157236744	7	5	145	1	0	1	0	1	0	0	0	0	3538	1348	47	0	1318	0	CLINT1	5	157236744	Frame_Shift_Del	DEL	G	TCGA-R6-A6XQ-01B-11D-A33E-09	6291167	157236744	23678516	85	36870											
RARS	5917	genome.wustl.edu	37	chr5	167915644	167915644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgactgctgaaattgaccGgttgaaaaactgtggctgtt	10	13	11	7	1	1	4	0	4	1	0	1	4	1	4	1	2	2	4	1	2	3	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr5:167915644G>T	ENST00000231572.3	+	2	137	c.83G>T	c.(82-84)cGg>cTg	p.R28L	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	28	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GAAATTGACCGGTTGAAAAAC	0.368																																																	0													64	69	67					5																	167915644		2203	4300	6503	SO:0001583	missense	0			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.83G>T	5.37:g.167915644G>T	ENSP00000231572:p.Arg28Leu		B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.R28L	ENST00000231572.3	37	c.83	CCDS4367.1	5	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090710	0.36855	.	.	ENSG00000113643	ENST00000231572	T	0.60548	0.18	5.64	2.82	0.32997	.	0.311519	0.33895	N	0.004450	T	0.48295	0.1492	L	0.55103	1.725	0.48452	D	0.999654	B	0.06786	0.001	B	0.04013	0.001	T	0.31364	-0.9946	10	0.23302	T	0.38	-16.6409	9.9954	0.41896	0.2917:0.0:0.7083:0.0	.	28	P54136	SYRC_HUMAN	L	28	ENSP00000231572:R28L	ENSP00000231572:R28L	R	+	2	0	RARS	167848222	0.044000	0.20184	0.833000	0.33012	0.883000	0.51084	0.575000	0.23729	0.291000	0.22468	0.462000	0.41574	CGG	RARS	-	NULL	ENSG00000113643		0.368	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2	-	0	89	0	G	NM_002887		167915644	1	tier1	-	no_errors	ENST00000231572	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.565	T	T	167915644	G	T	167915644	3	4	145	1	0	0	0	0	1	0	0	0	13103	1116	39	2	89	2	RARS	5	167915644	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	10678900	167915644	12999616	86	36871											
EHMT2	10919	genome.wustl.edu	37	chr6	31851610	31851610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgatgttgcgatcgatGttcatggtggacgtctcgca	6	13	15	7	4	2	1	1	1	1	0	4	4	2	2	0	3	1	3	0	3	0	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr6:31851610G>T	ENST00000375537.4	-	22	2895	c.2889C>A	c.(2887-2889)aaC>aaA	p.N963K	EHMT2_ENST00000375528.4_Missense_Mutation_p.N986K|EHMT2_ENST00000395728.3_Missense_Mutation_p.N1020K|EHMT2_ENST00000375530.4_Missense_Mutation_p.N929K|EHMT2_ENST00000480912.1_5'UTR|EHMT2-AS1_ENST00000434689.1_RNA	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	963					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						TGCGATCGATGTTCATGGTGG	0.567																																																	0													166	157	160					6																	31851610		2203	4300	6503	SO:0001583	missense	0			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.2889C>A	6.37:g.31851610G>T	ENSP00000364687:p.Asn963Lys		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.N1020K	ENST00000375537.4	37	c.3060	CCDS4725.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.460772|3.460772	0.63513|0.63513	.|.	.|.	ENSG00000204371|ENSG00000204371	ENST00000436026|ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	.|D;D;D;D	.|0.89123	.|-2.47;-2.47;-2.47;-2.47	5.45|5.45	1.15|1.15	0.20763|0.20763	.|Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	.|0.048642	.|0.85682	.|D	.|0.000000	T|T	0.80696|0.80696	0.4672|0.4672	L|L	0.41573|0.41573	1.285|1.285	0.47737|0.47737	D|D	0.999503|0.999503	.|P;B;P;P	.|0.43750	.|0.807;0.28;0.816;0.717	.|B;B;P;P	.|0.48189	.|0.441;0.252;0.57;0.465	T|T	0.78976|0.78976	-0.1991|-0.1991	5|10	.|0.56958	.|D	.|0.05	.|.	9.5722|9.5722	0.39436|0.39436	0.4106:0.0:0.5894:0.0|0.4106:0.0:0.5894:0.0	.|.	.|986;929;963;784	.|A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.|.;.;EHMT2_HUMAN;.	N|K	294|1020;986;929;963;784	.|ENSP00000379078:N1020K;ENSP00000364678:N986K;ENSP00000364680:N929K;ENSP00000364687:N963K	.|ENSP00000364678:N986K	H|N	-|-	1|3	0|2	EHMT2|EHMT2	31959589|31959589	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.838000|0.838000	0.47535|0.47535	2.342000|2.342000	0.43992|0.43992	0.293000|0.293000	0.22520|0.22520	-0.145000|-0.145000	0.13849|0.13849	CAT|AAC	EHMT2	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub	ENSG00000204371		0.567	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	-	0	52	0	G	NM_006709		31851610	-1	tier1	-	no_errors	ENST00000395728	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.998	T	T	31851610	G	T	31851610	3	4	145	1	0	0	0	0	1	0	0	0	4998	1368	48	3	771	3	EHMT2	6	31851610	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		31851610	139263457	87	36872											
IP6K3	117283	genome.wustl.edu	37	chr6	33690743	33690743	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggttcctgcccatcataGatgacaaggagagagctgga	11	8	14	8	0	1	3	1	1	0	2	2	6	2	5	2	4	2	2	2	4	2	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr6:33690743G>T	ENST00000293756.4	-	6	1313	c.987C>A	c.(985-987)atC>atA	p.I329I	IP6K3_ENST00000451316.1_Silent_p.I329I	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	329					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GCCCATCATAGATGACAAGGA	0.617																																																	0													63	67	65					6																	33690743		2203	4300	6503	SO:0001819	synonymous_variant	0			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"inositol hexaphosphate kinase 3"	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.987C>A	6.37:g.33690743G>T			Q96MQ9	Silent	SNP	pfam_IPK	p.I329	ENST00000293756.4	37	c.987	CCDS34435.1	6																																																																																			IP6K3	-	pfam_IPK	ENSG00000161896		0.617	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K3	HGNC	protein_coding	OTTHUMT00000040203.1		0	50	0	G	NM_054111		33690743	-1			no_errors	ENST00000293756	ensembl	human	known	74_37	silent	7.50	37	3	SNP	1.000	T	T	33690743	G	T	33690743	2	4	145	1	0	0	0	0	0	0	0	1	7817	932	33	3		3	IP6K3	6	33690743	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1839133	33690743	137424324	88	36873											
TRERF1	55809	genome.wustl.edu	37	chr6	42227217	42227217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgggctcagcatgggtgggGgcgtgtaagggggcagctcg	5	6	21	9	3	1	0	1	0	0	0	2	0	1	0	1	6	2	5	1	6	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr6:42227217G>A	ENST00000372922.4	-	9	2691	c.2129C>T	c.(2128-2130)cCc>cTc	p.P710L	TRERF1_ENST00000354325.2_Missense_Mutation_p.P627L|TRERF1_ENST00000541110.1_Missense_Mutation_p.P730L|TRERF1_ENST00000372917.4_Missense_Mutation_p.P627L|TRERF1_ENST00000340840.2_Missense_Mutation_p.P627L	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	710	Interacts with CREBBP.|Pro-rich.				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)			CATGGGTGGGGGCGTGTAAGG	0.726																																																	0													10	15	13					6																	42227217		2131	4185	6316	SO:0001583	missense	0			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.2129C>T	6.37:g.42227217G>A	ENSP00000362013:p.Pro710Leu		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.P730L	ENST00000372922.4	37	c.2189	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.616225	0.96649	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.37058	1.22;1.34;1.34;1.34;1.35	5.41	5.41	0.78517	.	0.000000	0.56097	D	0.000021	T	0.59046	0.2165	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	0.91635	0.999;0.997;0.997;0.999;0.999	T	0.64736	-0.6337	10	0.87932	D	0	-20.3857	19.209	0.93747	0.0:0.0:1.0:0.0	.	627;730;710;466;466	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	L	730;627;710;627;627	ENSP00000439689:P730L;ENSP00000362008:P627L;ENSP00000362013:P710L;ENSP00000339438:P627L;ENSP00000346285:P627L	ENSP00000339438:P627L	P	-	2	0	TRERF1	42335195	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.636000	0.98440	2.519000	0.84933	0.655000	0.94253	CCC	TRERF1	-	NULL	ENSG00000124496		0.726	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	-	0	34	0	G	NM_033502		42227217	-1	tier1	-	no_errors	ENST00000541110	ensembl	human	known	74_37	missense	85.29	5	29	SNP	1.000	A	A	42227217	G	A	42227217	3	1	145	1	0	0	0	0	1	0	0	0	16523	1232	43	3	1513	3	TRERF1	6	42227217	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	8536474	42227217	128887850	89	36874											
RPL7L1	285855	genome.wustl.edu	37	chr6	42852469	42852469	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaaaatgctgcgtatagtgGaaccttatgtgacctggggg	11	11	13	6	1	0	1	0	1	0	0	0	2	0	2	2	3	3	2	2	3	7	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr6:42852469G>T	ENST00000493763.1	+	4	706	c.403G>T	c.(403-405)Gaa>Taa	p.E135*	RPL7L1_ENST00000424341.2_Nonsense_Mutation_p.E135*|RPL7L1_ENST00000602561.1_Nonsense_Mutation_p.E135*|RPL7L1_ENST00000304734.5_Nonsense_Mutation_p.E135*|RPL7L1_ENST00000397415.3_3'UTR	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	135						ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			GCGTATAGTGGAACCTTATGT	0.433																																																	0													54	58	57					6																	42852469		2203	4300	6503	SO:0001587	stop_gained	0				CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"L ribosomal proteins"	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.403G>T	6.37:g.42852469G>T	ENSP00000418221:p.Glu135*		A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	Nonsense_Mutation	SNP	pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.E135*	ENST00000493763.1	37	c.403	CCDS4873.1	6	.	.	.	.	.	.	.	.	.	.	G	38	6.751860	0.97813	.	.	ENSG00000146223	ENST00000493763;ENST00000304734;ENST00000424341	.	.	.	5.01	5.01	0.66863	.	0.052139	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1811	0.81903	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000346063:E135X	E	+	1	0	RPL7L1	42960447	1.000000	0.71417	0.996000	0.52242	0.743000	0.42351	9.325000	0.96381	2.474000	0.83562	0.591000	0.81541	GAA	RPL7L1	-	pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	ENSG00000146223		0.433	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7L1	HGNC	protein_coding	OTTHUMT00000314417.1	-	0	94	0	G	XM_209769		42852469	1	tier1	-	no_errors	ENST00000304734	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	T	T	42852469	G	T	42852469	4	4	145	1	0	0	0	0	0	1	0	0	13646	1175	41	3	417	3	RPL7L1	6	42852469	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	625252	42852469	128262598	90	36875											
CUL9	23113	genome.wustl.edu	37	chr6	43181534	43181534	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcatacctgaacgtaGagaaggatgaaggccgaacc	14	4	12	11	2	0	3	0	2	0	1	0	6	0	4	4	3	3	2	4	3	6	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr6:43181534G>T	ENST00000252050.4	+	29	5656	c.5572G>T	c.(5572-5574)Gag>Tag	p.E1858*	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Nonsense_Mutation_p.E1748*|CUL9_ENST00000372647.2_Splice_Site|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1858					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						CCTGAACGTAGAGAAGGATGA	0.582																																																	0													81	82	81					6																	43181534		2203	4300	6503	SO:0001587	stop_gained	0			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.5572G>T	6.37:g.43181534G>T	ENSP00000252050:p.Glu1858*		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Nonsense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.E1858*	ENST00000252050.4	37	c.5572	CCDS4890.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.68|12.68	2.009876|2.009876	0.35415|0.35415	.|.	.|.	ENSG00000112659|ENSG00000112659	ENST00000372647|ENST00000252050;ENST00000354495	.|.	.|.	.|.	5.22|5.22	4.34|4.34	0.51931|0.51931	.|.	.|0.101939	.|0.64402	.|D	.|0.000004	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.87932	.|D	.|0	.|-17.0194	15.7187|15.7187	0.77691|0.77691	0.0:0.1372:0.8628:0.0|0.0:0.1372:0.8628:0.0	.|.	.|.	.|.	.|.	.|X	-1|1858;1748	.|.	.|ENSP00000252050:E1858X	.|E	+|+	.|1	.|0	CUL9|CUL9	43289512|43289512	1.000000|1.000000	0.71417|0.71417	0.731000|0.731000	0.30826|0.30826	0.500000|0.500000	0.33767|0.33767	4.556000|4.556000	0.60775|0.60775	1.176000|1.176000	0.42840|0.42840	0.655000|0.655000	0.94253|0.94253	.|GAG	CUL9	-	NULL	ENSG00000112659		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	-	0	118	0	G	NM_015089		43181534	1	tier1	-	no_errors	ENST00000252050	ensembl	human	known	74_37	nonsense	5.48	68	4	SNP	0.999	T	T	43181534	G	T	43181534	4	4	145	1	0	0	0	0	0	1	0	0	4070	943	33	3	5682	3	CUL9	6	43181534	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	329065	43181534	127933533	91	36876											
ENPP5	59084	genome.wustl.edu	37	chr6	46133249	46133249	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcttcttttttgtaaacaGtaagattaggatgagcgtga	11	15	10	5	2	2	3	0	2	2	1	2	4	2	4	0	1	2	2	0	1	4	7			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr6:46133249G>C	ENST00000371383.2	-	4	1141	c.881C>G	c.(880-882)aCt>aGt	p.T294S	ENPP5_ENST00000230565.3_Missense_Mutation_p.T294S|ENPP5_ENST00000492313.1_5'UTR					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTTGTAAACAGTAAGATTAGG	0.398																																																	0													204	179	187					6																	46133249		2203	4300	6503	SO:0001583	missense	0			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.881C>G	6.37:g.46133249G>C	ENSP00000360436:p.Thr294Ser			Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.T294S	ENST00000371383.2	37	c.881	CCDS4915.1	6	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794629	0.50102	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.71341	-0.56;-0.56	5.77	5.77	0.91146	Alkaline-phosphatase-like, core domain (1);	0.179817	0.50627	D	0.000120	T	0.49218	0.1544	L	0.52206	1.635	0.25440	N	0.988104	P;P	0.37548	0.599;0.599	B;B	0.38296	0.27;0.27	T	0.43893	-0.9363	10	0.25751	T	0.34	-20.4505	11.1035	0.48188	0.0:0.1185:0.6485:0.233	.	294;294	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	S	294	ENSP00000360436:T294S;ENSP00000230565:T294S	ENSP00000230565:T294S	T	-	2	0	ENPP5	46241208	0.993000	0.37304	0.954000	0.39281	0.305000	0.27757	1.230000	0.32612	2.884000	0.98904	0.655000	0.94253	ACT	ENPP5	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000112796		0.398	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP5	HGNC	protein_coding	OTTHUMT00000040779.2	-	0	79	0	G			46133249	-1	tier1	-	no_errors	ENST00000230565	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.934	C	C	46133249	G	C	46133249	3	2	145	1	0	0	0	0	1	0	0	0	5149	1029	36	5	560	5	ENPP5	6	46133249	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	2951715	46133249	124981818	92	36877											
HCRTR2	3062	genome.wustl.edu	37	chr6	55142396	55142396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcctcaatgtgctaaaGaggtaaaacttatctgttat	14	13	7	7	0	2	1	1	0	1	1	3	1	3	1	1	1	3	4	1	1	7	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr6:55142396G>T	ENST00000370862.3	+	5	1317	c.981G>T	c.(979-981)aaG>aaT	p.K327N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	327					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)			ATGTGCTAAAGAGGTAAAACT	0.333																																																	0													76	75	75					6																	55142396		2203	4300	6503	SO:0001583	missense	0			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.981G>T	6.37:g.55142396G>T	ENSP00000359899:p.Lys327Asn		Q5VTM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.K327N	ENST00000370862.3	37	c.981	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500513	0.64298	.	.	ENSG00000137252	ENST00000370862	T	0.71461	-0.57	6.16	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	L	0.31065	0.9	0.80722	D	1	D	0.58268	0.982	P	0.61722	0.893	T	0.51733	-0.8668	10	0.17832	T	0.49	.	8.2407	0.31658	0.4474:0.0:0.5526:0.0	.	327	O43614	OX2R_HUMAN	N	327	ENSP00000359899:K327N	ENSP00000359899:K327N	K	+	3	2	HCRTR2	55250355	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.095000	0.50235	0.440000	0.26502	0.650000	0.86243	AAG	HCRTR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt	ENSG00000137252		0.333	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	-	0	23	0	G			55142396	1	tier1	-	no_errors	ENST00000370862	ensembl	human	known	74_37	missense	30.00	7	3	SNP	1.000	T	T	55142396	G	T	55142396	3	4	145	1	0	0	0	0	1	0	0	0	7029	933	33	3	999	3	HCRTR2	6	55142396	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	9009147	55142396	115972671	93	36878											
RWDD2A	112611	genome.wustl.edu	37	chr6	83904241	83904241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgttttctatgtttcCtaaccaaggagaagtaaaac	14	13	7	7	0	1	1	0	0	1	1	2	2	2	1	2	1	3	4	2	1	7	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr6:83904241C>A	ENST00000369724.4	+	2	276	c.71C>A	c.(70-72)cCt>cAt	p.P24H	RWDD2A_ENST00000539997.1_Intron|PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000513973.1_5'Flank|PGM3_ENST00000512866.1_5'Flank|PGM3_ENST00000283977.4_5'Flank	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	24	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		TCTATGTTTCCTAACCAAGGA	0.448																																																	0													100	93	95					6																	83904241		2203	4300	6503	SO:0001583	missense	0			BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"RWD domain containing 2"	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.71C>A	6.37:g.83904241C>A	ENSP00000358739:p.Pro24His		B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain	p.P24H	ENST00000369724.4	37	c.71	CCDS4998.1	6	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588219	0.86851	.	.	ENSG00000013392	ENST00000369724	T	0.26660	1.72	5.03	5.03	0.67393	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.64402	D	0.000002	T	0.47911	0.1471	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52616	-0.8552	10	0.87932	D	0	-16.1458	18.5631	0.91108	0.0:1.0:0.0:0.0	.	24	Q9UIY3	RWD2A_HUMAN	H	24	ENSP00000358739:P24H	ENSP00000358739:P24H	P	+	2	0	RWDD2A	83960960	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.315000	0.72853	2.596000	0.87737	0.655000	0.94253	CCT	RWDD2A	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain	ENSG00000013392		0.448	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RWDD2A	HGNC	protein_coding	OTTHUMT00000041348.2	-	0	76	0	C	NM_033411		83904241	1	tier1	-	no_errors	ENST00000369724	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	83904241	C	A	83904241	3	1	145	1	0	0	0	0	1	0	0	0	13800	681	24	3	73	3	RWDD2A	6	83904241	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	28761845	83904241	87210826	94	36879											
CASP8AP2	9994	genome.wustl.edu	37	chr6	90578514	90578514	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcataattctcacaaaaaGagaagaaacatttctgatct	17	12	5	7	0	3	3	1	1	3	2	4	4	3	3	0	0	2	1	0	0	5	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr6:90578514G>T	ENST00000551025.1	+	0	6942									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)		CTCACAAAAAGAGAAGAAACA	0.343																																					Colon(187;1656 2025 17045 31481 39901)												0													48	44	46					6																	90578514		1822	4081	5903			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578514G>T				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.343	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript			0	42	0	G	NM_001137667		90578514	1			no_errors	ENST00000237177	ensembl	human	known	74_37	rna	10.34	26	3	SNP	0.998	T	T	90578514	G	T	90578514	1	4	145	0	1	0	0	0	0	0	0	0	2685	933	33	3		3	CASP8AP2	6	90578514	RNA	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	6674273	90578514	80536553	95	36880											
FAM26F	441168	genome.wustl.edu	37	chr6	116784539	116784539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagttagttttctgcagCtgaaattctggaaaatctat	11	15	7	8	0	3	1	0	1	3	0	4	2	4	2	1	1	2	4	1	1	5	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr6:116784539C>A	ENST00000368605.1	+	3	714	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	FAM26F_ENST00000368606.3_Missense_Mutation_p.L35M|RP1-93H18.6_ENST00000476099.1_RNA	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	207					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)		TTTTCTGCAGCTGAAATTCTG	0.383																																																	0													135	133	133					6																	116784539		2203	4300	6503	SO:0001583	missense	0			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.619C>A	6.37:g.116784539C>A	ENSP00000357594:p.Leu207Met		B9EJB0|Q5R3K4	Missense_Mutation	SNP	NULL	p.L207M	ENST00000368605.1	37	c.619	CCDS34519.1	6	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353349	0.61293	.	.	ENSG00000188820	ENST00000368606;ENST00000368605;ENST00000368604	T;T;T	0.19806	2.12;2.12;2.12	5.11	0.176	0.15049	.	0.088940	0.46442	D	0.000291	T	0.21962	0.0529	M	0.71296	2.17	0.32513	N	0.537329	D	0.89917	1.0	D	0.76071	0.987	T	0.03184	-1.1063	10	0.39692	T	0.17	-9.6283	5.4947	0.16795	0.1283:0.5849:0.0:0.2868	.	207	Q5R3K3	FA26F_HUMAN	M	35;207;50	ENSP00000357595:L35M;ENSP00000357594:L207M;ENSP00000357593:L50M	ENSP00000357593:L50M	L	+	1	2	FAM26F	116891232	1.000000	0.71417	0.611000	0.29010	0.919000	0.55068	0.819000	0.27308	-0.165000	0.10908	-0.150000	0.13652	CTG	FAM26F	-	NULL	ENSG00000188820		0.383	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26F	HGNC	protein_coding	OTTHUMT00000041946.1	-	0	75	0	C	NM_001010919		116784539	1	tier1	-	no_errors	ENST00000368605	ensembl	human	known	74_37	missense	15.49	60	11	SNP	0.980	A	A	116784539	C	A	116784539	3	1	145	1	0	0	0	0	1	0	0	0	5573	796	28	3	625	3	FAM26F	6	116784539	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	26206025	116784539	54330528	96	36881											
SMPDL3A	10924	genome.wustl.edu	37	chr6	123122527	123122527	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaccatggctagatgaaGaagctattagtactttaagg	15	10	11	5	0	0	3	0	1	0	2	0	4	0	4	1	3	3	3	1	3	8	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr6:123122527G>T	ENST00000368440.4	+	4	721	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	SMPDL3A_ENST00000539041.1_Nonsense_Mutation_p.E51*	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	182					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)		GCTAGATGAAGAAGCTATTAG	0.338																																																	0													148	138	142					6																	123122527		2203	4300	6503	SO:0001587	stop_gained	0			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.544G>T	6.37:g.123122527G>T	ENSP00000357425:p.Glu182*		B7Z729|Q8WV13	Nonsense_Mutation	SNP	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.E182*	ENST00000368440.4	37	c.544	CCDS5128.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.744451	0.96882	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	.	.	.	5.72	5.72	0.89469	.	0.228395	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-16.7957	20.2406	0.98372	0.0:0.0:1.0:0.0	.	.	.	.	X	182;51	.	ENSP00000357425:E182X	E	+	1	0	SMPDL3A	123164226	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	6.417000	0.73337	2.857000	0.98124	0.650000	0.86243	GAA	SMPDL3A	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000172594		0.338	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1		0	88	0	G	NM_006714		123122527	1			no_errors	ENST00000368440	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	T	T	123122527	G	T	123122527	4	4	145	1	0	0	0	0	0	1	0	0	14853	943	33	3	558	3	SMPDL3A	6	123122527	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	6337988	123122527	47992540	97	36882											
NOX3	50508	genome.wustl.edu	37	chr6	155743884	155743884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaccatatagatttcaGaagagcagcgaagggagtga	14	10	12	5	1	1	4	1	1	0	3	1	6	1	5	1	1	3	2	1	1	5	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr6:155743884G>T	ENST00000159060.2	-	10	1354	c.1252C>A	c.(1252-1254)Ctg>Atg	p.L418M		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	418					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)		ATAGATTTCAGAAGAGCAGCG	0.502																																																	0													153	144	147					6																	155743884		2203	4300	6503	SO:0001583	missense	0			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.1252C>A	6.37:g.155743884G>T	ENSP00000159060:p.Leu418Met		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.L418M	ENST00000159060.2	37	c.1252	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916373	0.52546	.	.	ENSG00000074771	ENST00000159060	D	0.96073	-3.9	5.81	4.76	0.60689	Ferric reductase, NAD binding (1);	0.000000	0.51477	D	0.000100	D	0.97885	0.9305	H	0.95504	3.68	0.40794	D	0.983288	D	0.57899	0.981	P	0.60236	0.871	D	0.98442	1.0587	10	0.87932	D	0	-12.1055	13.4936	0.61411	0.1168:0.0:0.8832:0.0	.	418	Q9HBY0	NOX3_HUMAN	M	418	ENSP00000159060:L418M	ENSP00000159060:L418M	L	-	1	2	NOX3	155785576	1.000000	0.71417	0.984000	0.44739	0.444000	0.32077	3.019000	0.49635	2.747000	0.94245	0.643000	0.83706	CTG	NOX3	-	pfam_Fe_red_NAD-bd_6,prints_Cyt_b245_heavy_chain	ENSG00000074771		0.502	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	-	0	48	0	G			155743884	-1	tier1	-	no_errors	ENST00000159060	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T	T	155743884	G	T	155743884	3	4	145	1	0	0	0	0	1	0	0	0	10596	933	33	3	470	3	NOX3	6	155743884	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	32621357	155743884	15371183	98	36883											
SDK1	221935	genome.wustl.edu	37	chr7	3990596	3990596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatggccccaaccattgtgGttcccccgggcaacagaagt	9	7	10	15	1	0	1	0	0	0	1	1	1	1	1	6	3	2	2	6	3	3	2	rs367915297		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr7:3990596G>T	ENST00000404826.2	+	6	1028	c.889G>T	c.(889-891)Gtt>Ttt	p.V297F	SDK1_ENST00000389531.3_Missense_Mutation_p.V297F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	297	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AACCATTGTGGTTCCCCCGGG	0.557																																																	0													105	80	89					7																	3990596		2203	4300	6503	SO:0001583	missense	0			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.889G>T	7.37:g.3990596G>T	ENSP00000385899:p.Val297Phe		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V297F	ENST00000404826.2	37	c.889	CCDS34590.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.05|14.05	2.419649|2.419649	0.42918|0.42918	.|.	.|.	ENSG00000146555|ENSG00000146555	ENST00000404826;ENST00000389531|ENST00000426596	T;T|.	0.03524|.	3.9;3.9|.	5.61|5.61	0.167|0.167	0.15006|0.15006	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.256457|.	0.29676|.	N|.	0.011493|.	T|T	0.45895|0.45895	0.1365|0.1365	L|L	0.55017|0.55017	1.72|1.72	0.29079|0.29079	N|N	0.88281|0.88281	P|.	0.44877|.	0.845|.	P|.	0.47346|.	0.544|.	T|T	0.44390|0.44390	-0.9331|-0.9331	10|5	0.72032|.	D|.	0.01|.	.|.	8.3659|8.3659	0.32387|0.32387	0.4882:0.0:0.5118:0.0|0.4882:0.0:0.5118:0.0	.|.	297|.	Q7Z5N4|.	SDK1_HUMAN|.	F|C	297|15	ENSP00000385899:V297F;ENSP00000374182:V297F|.	ENSP00000374182:V297F|.	V|W	+|+	1|3	0|0	SDK1|SDK1	3957122|3957122	0.229000|0.229000	0.23729|0.23729	0.163000|0.163000	0.22734|0.22734	0.714000|0.714000	0.41099|0.41099	0.048000|0.048000	0.14078|0.14078	-0.186000|-0.186000	0.10533|0.10533	0.655000|0.655000	0.94253|0.94253	GTT|TGG	SDK1	-	pfscan_Ig-like_dom	ENSG00000146555		0.557	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1		0	91	0	G	NM_152744		3990596	1			no_errors	ENST00000404826	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.881	T	T	3990596	G	T	3990596	3	4	145	1	0	0	0	0	1	0	0	0	14013	1261	44	3	911	3	SDK1	7	3990596	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		3990596	155148067	99	36884											
MMD2	221938	genome.wustl.edu	37	chr7	4965104	4965104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgggtggcacagttggccGcatgttcatactctgtgggc	6	11	14	10	1	2	0	1	0	1	0	2	0	2	0	1	4	1	4	1	4	1	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr7:4965104G>C	ENST00000404774.3	-	2	301	c.107C>G	c.(106-108)gCg>gGg	p.A36G	MMD2_ENST00000401401.3_Missense_Mutation_p.A36G|MMD2_ENST00000406755.1_Missense_Mutation_p.A36G	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	36						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		ACAGTTGGCCGCATGTTCATA	0.602																																																	0													151	150	150					7																	4965104		1948	4132	6080	SO:0001583	missense	0			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.107C>G	7.37:g.4965104G>C	ENSP00000384690:p.Ala36Gly		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	pfam_HlyIII-related	p.A36G	ENST00000404774.3	37	c.107	CCDS47529.1	7	.	.	.	.	.	.	.	.	.	.	g	22.8	4.334046	0.81801	.	.	ENSG00000136297	ENST00000404774;ENST00000406755;ENST00000401401	T;T;T	0.31247	1.5;1.5;1.5	3.82	3.82	0.43975	.	0.000000	0.64402	D	0.000001	T	0.56819	0.2011	M	0.80982	2.52	0.58432	D	0.999994	D;D;P	0.76494	0.999;0.998;0.922	D;D;P	0.76575	0.988;0.971;0.805	T	0.65154	-0.6237	10	0.72032	D	0.01	-7.5795	14.8881	0.70584	0.0:0.0:1.0:0.0	.	36;36;36	B5MBW4;Q8IY49;Q8IY49-2	.;PAQRA_HUMAN;.	G	36	ENSP00000384690:A36G;ENSP00000385963:A36G;ENSP00000384141:A36G	ENSP00000384141:A36G	A	-	2	0	MMD2	4931630	1.000000	0.71417	0.933000	0.37362	0.983000	0.72400	8.793000	0.91862	1.965000	0.57142	0.561000	0.74099	GCG	MMD2	-	pfam_HlyIII-related	ENSG00000136297		0.602	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	HGNC	protein_coding	OTTHUMT00000324136.1		0	41	0	G	NM_198403		4965104	-1			no_errors	ENST00000404774	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	C	C	4965104	G	C	4965104	3	2	145	1	0	0	0	0	1	0	0	0	9682	1087	38	5	729	5	MMD2	7	4965104	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	974508	4965104	154173559	100	36885											
TNRC18	84629	genome.wustl.edu	37	chr7	5360056	5360056	+	Splice_Site	SNP	A	A	G	1	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	aggctggcctcacatcgatgAtctagaagggcatgggatga	11	8	14	8	1	2	3	1	2	1	1	3	5	2	4	1	4	0	2	1	4	2	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr7:5360056A>G	ENST00000430969.1	-	24	6986	c.6638T>C	c.(6637-6639)aTc>aCc	p.I2213T	TNRC18_ENST00000399537.4_Splice_Site_p.I2213T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2213							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)		CACATCGATGATCTAGAAGGG	0.627																																																	0													40	39	39					7																	5360056		1559	3567	5126	SO:0001630	splice_region_variant	0			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.6637-1T>C	7.37:g.5360056A>G			A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.I2213T	ENST00000430969.1	37	c.6638	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	a	18.39	3.614596	0.66672	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.42131	0.98;0.98	4.4	4.4	0.53042	.	.	.	.	.	T	0.58323	0.2114	L	0.54323	1.7	0.58432	D	0.999996	D	0.71674	0.998	D	0.78314	0.991	T	0.61936	-0.6960	9	0.72032	D	0.01	.	13.245	0.60018	1.0:0.0:0.0:0.0	.	2213	O15417	TNC18_HUMAN	T	2213	ENSP00000382452:I2213T;ENSP00000395538:I2213T	ENSP00000382452:I2213T	I	-	2	0	TNRC18	5326582	1.000000	0.71417	0.983000	0.44433	0.724000	0.41520	4.485000	0.60279	1.609000	0.50190	0.456000	0.33151	ATC	TNRC18	-	NULL	ENSG00000182095		0.627	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding			0	93	0	A		Missense_Mutation	5360056	-1			no_errors	ENST00000399537	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	G	G	5360056	A	G	5360056	5	3	145	1	0	0	0	0	0	0	1	0	16386	347	12	4	2296	4	TNRC18	7	5360056	Splice_Site	SNP	A	TCGA-R6-A6XQ-01B-11D-A33E-09	394952	5360056	153778607	101	36886											
ABCB5	340273	genome.wustl.edu	37	chr7	20685713	20685713	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttttggtatggaacctcCttgattcttaatggagaacc	9	15	9	8	0	1	2	0	1	1	1	2	4	2	3	3	3	2	2	3	3	4	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr7:20685713C>A	ENST00000404938.2	+	9	1585	c.933C>A	c.(931-933)tcC>tcA	p.S311S	ABCB5_ENST00000258738.6_5'Flank|ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000406935.1_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	311	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATGGAACCTCCTTGATTCTTA	0.403																																																	0													131	115	119					7																	20685713		1568	3582	5150	SO:0001819	synonymous_variant	0			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.933C>A	7.37:g.20685713C>A			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.S311	ENST00000404938.2	37	c.933	CCDS55090.1	7																																																																																			ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000004846		0.403	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	-	0	43	0	C	NM_178559		20685713	1	tier1	-	no_errors	ENST00000404938	ensembl	human	putative	74_37	silent	26.32	14	5	SNP	0.986	A	A	20685713	C	A	20685713	2	1	145	1	0	0	0	0	0	0	0	1	44	668	24	3		3	ABCB5	7	20685713	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	15325657	20685713	138452950	102	36887											
AMPH	273	genome.wustl.edu	37	chr7	38431352	38431352	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaaaataagaataccttGtagagaaagccaggaggcaa	20	7	9	5	0	0	2	0	0	0	2	0	4	0	3	2	2	2	2	2	2	9	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr7:38431352G>T	ENST00000356264.2	-	19	2090	c.1875C>A	c.(1873-1875)taC>taA	p.Y625*	AMPH_ENST00000428293.2_Nonsense_Mutation_p.Y583*|AMPH_ENST00000325590.5_Nonsense_Mutation_p.Y583*|AMPH_ENST00000471913.1_5'Flank	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	625	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGAATACCTTGTAGAGAAAGC	0.458																																																	0													39	43	42					7																	38431352		2203	4299	6502	SO:0001587	stop_gained	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1875C>A	7.37:g.38431352G>T	ENSP00000348602:p.Tyr625*		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Nonsense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain	p.Y625*	ENST00000356264.2	37	c.1875	CCDS5456.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.689594|7.689594	0.98434|0.98434	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000441628|ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	.|.	.|.	.|.	5.63|5.63	2.37|2.37	0.29283|0.29283	.|.	.|0.166757	.|0.44483	.|D	.|0.000456	T|.	0.15696|.	0.0378|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32955|.	-0.9887|.	3|.	.|0.02654	.|T	.|1	-14.7173|-14.7173	6.3413|6.3413	0.21324|0.21324	0.5237:0.0:0.4763:0.0|0.5237:0.0:0.4763:0.0	.|.	.|.	.|.	.|.	K|X	508|583;625;583;527	.|.	.|ENSP00000317441:Y583X	Q|Y	-|-	1|3	0|2	AMPH|AMPH	38397877|38397877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	1.929000|1.929000	0.40114|0.40114	0.640000|0.640000	0.30582|0.30582	0.655000|0.655000	0.94253|0.94253	CAA|TAC	AMPH	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Amphiphysin,prints_SH3_domain	ENSG00000078053		0.458	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2		0	95	0	G	NM_001635		38431352	-1			no_errors	ENST00000356264	ensembl	human	known	74_37	nonsense	5.36	53	3	SNP	1.000	T	T	38431352	G	T	38431352	4	4	145	1	0	0	0	0	0	1	0	0	588	1372	48	3	224	3	AMPH	7	38431352	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	17745639	38431352	120707311	103	36888											
INHBA	3624	genome.wustl.edu	37	chr7	41729394	41729394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaaggggctatggccccGcatgcggtagtggttgatga	8	8	17	8	2	0	2	0	2	0	0	0	2	0	2	2	6	1	5	2	6	3	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr7:41729394G>A	ENST00000242208.4	-	3	1381	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	INHBA_ENST00000442711.1_Missense_Mutation_p.R379W|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	379				RMR -> AC (in Ref. 7; CAA51163). {ECO:0000305}.	activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.R379W(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTATGGCCCCGCATGCGGTAG	0.537										TSP Lung(11;0.080)																																							1	Substitution - Missense(1)	large_intestine(1)											126	112	117					7																	41729394		2203	4300	6503	SO:0001583	missense	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.1135C>T	7.37:g.41729394G>A	ENSP00000242208:p.Arg379Trp		Q14599	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.R379W	ENST00000242208.4	37	c.1135	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	.	14.76	2.631060	0.46944	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	D;D	0.85339	-1.97;-1.97	5.86	2.59	0.31030	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92319	0.7563	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93414	0.6771	10	0.87932	D	0	-21.1176	15.948	0.79809	0.0:0.0:0.5124:0.4876	.	379	P08476	INHBA_HUMAN	W	379	ENSP00000242208:R379W;ENSP00000397197:R379W	ENSP00000242208:R379W	R	-	1	2	INHBA	41695919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.507000	0.22675	0.732000	0.32470	0.591000	0.81541	CGG	INHBA	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000122641		0.537	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	-	0	42	0	G			41729394	-1	tier1	-	no_errors	ENST00000242208	ensembl	human	known	74_37	missense	68.18	7	15	SNP	0.995	A	A	41729394	G	A	41729394	3	1	145	1	0	0	0	0	1	0	0	0	7768	1086	38	1	149	1	INHBA	7	41729394	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3298042	41729394	117409269	104	36889											
COL1A2	1278	genome.wustl.edu	37	chr7	94043006	94043006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttaaatatttttagggtgCtccaggtcctgatggaaaca	11	14	10	6	0	0	1	0	1	0	0	2	2	2	2	2	3	2	2	2	3	5	5	rs140434765		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr7:94043006C>A	ENST00000297268.6	+	27	2033	c.1562C>A	c.(1561-1563)gCt>gAt	p.A521D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	521					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)	TTTTAGGGTGCTCCAGGTCCT	0.438										HNSCC(75;0.22)																																							0													98	93	95					7																	94043006		2203	4300	6503	SO:0001583	missense	0			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.1562C>A	7.37:g.94043006C>A	ENSP00000297268:p.Ala521Asp		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	p.A521D	ENST00000297268.6	37	c.1562	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837665	0.50951	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93659	-3.26	5.4	5.4	0.78164	.	0.268946	0.36703	N	0.002444	D	0.90810	0.7114	N	0.12746	0.255	0.50467	D	0.999873	P	0.48834	0.916	P	0.54924	0.764	D	0.87596	0.2494	10	0.10636	T	0.68	.	19.5643	0.95386	0.0:1.0:0.0:0.0	.	521	P08123	CO1A2_HUMAN	D	521;522	ENSP00000297268:A521D	ENSP00000297268:A521D	A	+	2	0	COL1A2	93880942	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.900000	0.63252	2.700000	0.92200	0.655000	0.94253	GCT	COL1A2	-	pfam_Collagen	ENSG00000164692		0.438	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2		0	41	0	C	NM_000089		94043006	1			no_errors	ENST00000297268	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	A	A	94043006	C	A	94043006	3	1	145	1	0	0	0	0	1	0	0	0	3685	797	28	3	1668	3	COL1A2	7	94043006	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	52313612	94043006	65095657	105	36890											
AP4M1	9179	genome.wustl.edu	37	chr7	99702906	99702906	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagtctcgtttcacagCtctgtgaatctggacgaatt	10	13	10	8	2	4	2	1	2	3	0	5	5	4	3	0	1	1	2	0	1	3	2	rs545459309		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr7:99702906C>A	ENST00000359593.4	+	10	929	c.771C>A	c.(769-771)agC>agA	p.S257R	AP4M1_ENST00000429084.1_Missense_Mutation_p.S264R|AP4M1_ENST00000421755.1_Missense_Mutation_p.S257R|AP4M1_ENST00000422582.1_Missense_Mutation_p.S129R	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	257	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)					CGTTTCACAGCTCTGTGAATC	0.532																																					Pancreas(174;1182 2812 29595 49511)												0													110	117	115					7																	99702906		2203	4300	6503	SO:0001583	missense	0			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.771C>A	7.37:g.99702906C>A	ENSP00000352603:p.Ser257Arg		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C	p.S257R	ENST00000359593.4	37	c.771	CCDS5685.1	7	.	.	.	.	.	.	.	.	.	.	C	5.106	0.205148	0.09704	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582;ENST00000450807	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	5.1	-0.162	0.13367	Clathrin adaptor, mu subunit, C-terminal (3);	0.245603	0.44902	D	0.000416	T	0.08980	0.0222	N	0.14661	0.345	0.31832	N	0.624613	B;P;P;P	0.42375	0.349;0.778;0.577;0.577	B;B;B;B	0.36845	0.081;0.176;0.234;0.156	T	0.18745	-1.0327	10	0.62326	D	0.03	-28.0504	5.0127	0.14321	0.0:0.4012:0.1501:0.4487	.	213;209;264;257	C9JMG3;B4DKN7;C9JC87;O00189	.;.;.;AP4M1_HUMAN	R	189;264;257;213;257;129;9	ENSP00000401613:S189R;ENSP00000403663:S264R;ENSP00000352603:S257R;ENSP00000414286:S213R;ENSP00000412185:S257R;ENSP00000406676:S129R;ENSP00000391585:S9R	ENSP00000352603:S257R	S	+	3	2	AP4M1	99540842	1.000000	0.71417	0.980000	0.43619	0.150000	0.21749	0.814000	0.27239	0.057000	0.16193	-0.150000	0.13652	AGC	AP4M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C	ENSG00000221838		0.532	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP4M1	HGNC	protein_coding	OTTHUMT00000336772.4	-	0	53	0	C	NM_004722		99702906	1	tier1	-	no_errors	ENST00000359593	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.970	A	A	99702906	C	A	99702906	3	1	145	1	0	0	0	0	1	0	0	0	753	796	28	3	809	3	AP4M1	7	99702906	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	5659900	99702906	59435757	106	36891											
ST7	7982	genome.wustl.edu	37	chr7	116759698	116759698	+	Silent	SNP	A	A	T	1	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	cacttgcgcccccttctgggAggggttgacaacaactcttc	7	10	10	14	1	2	1	0	1	2	0	3	2	2	2	2	3	3	1	2	3	2	4	rs35416096		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr7:116759698A>T	ENST00000393446.2	+	3	621	c.318A>T	c.(316-318)ggA>ggT	p.G106G	ST7_ENST00000393449.1_Silent_p.G106G|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000393444.3_Silent_p.G63G|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000393443.1_Silent_p.G56G|ST7_ENST00000465133.1_Silent_p.G63G|ST7_ENST00000393447.4_Silent_p.G63G|ST7_ENST00000432298.1_Silent_p.G60G|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000265437.5_Silent_p.G106G|ST7_ENST00000393451.3_Silent_p.G106G|ST7_ENST00000422922.1_Silent_p.G60G|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000323984.3_Silent_p.G106G			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)		CCCTTCTGGGAGGGGTTGACA	0.413																																																	0													107	108	107					7																	116759698		2203	4300	6503	SO:0001819	synonymous_variant	0			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.318A>T	7.37:g.116759698A>T			A8K137|B4DRQ2	Silent	SNP	pfam_ST7	p.G106	ENST00000393446.2	37	c.318		7																																																																																			ST7	-	pfam_ST7	ENSG00000004866		0.413	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	ST7	HGNC	protein_coding	OTTHUMT00000319687.1	-	0	27	0	A	NM_021908		116759698	1	tier1	-	no_errors	ENST00000265437	ensembl	human	known	74_37	silent	41.18	9	7	SNP	0.999	T	T	116759698	A	T	116759698	2	4	145	1	0	0	0	0	0	0	0	1	15276	291	11	5		5	ST7	7	116759698	Silent	SNP	A	TCGA-R6-A6XQ-01B-11D-A33E-09	17056792	116759698	42378965	107	36892											
CTTNBP2	83992	genome.wustl.edu	37	chr7	117432023	117432023	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatgcctggtgtttgagcGgtgggaggggcagcgttact	5	11	18	7	2	0	1	0	1	0	0	0	2	0	2	1	5	4	4	1	5	2	3	rs367880685		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr7:117432023G>T	ENST00000160373.3	-	4	1318	c.1227C>A	c.(1225-1227)acC>acA	p.T409T	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	409	Pro-rich.				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)		GTGTTTGAGCGGTGGGAGGGG	0.517																																																	0													194	173	180					7																	117432023		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1227C>A	7.37:g.117432023G>T			O43389|Q7LG11|Q9C0A5	Silent	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T409	ENST00000160373.3	37	c.1227	CCDS5774.1	7																																																																																			CTTNBP2	-	NULL	ENSG00000077063		0.517	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	-	0	111	0	G	NM_033427		117432023	-1	tier1	-	no_errors	ENST00000160373	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.000	T	T	117432023	G	T	117432023	2	4	145	1	0	0	0	0	0	0	0	1	4054	1103	39	2		2	CTTNBP2	7	117432023	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	672325	117432023	41706640	108	36893											
KCNH2	3757	genome.wustl.edu	37	chr7	150648627	150648627	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactggtgaggctgctgaaGgtgaagtagagcgccgtcac	10	7	15	9	2	1	4	1	3	0	1	1	4	1	4	1	3	2	3	1	3	3	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr7:150648627G>T	ENST00000262186.5	-	7	2255	c.1854C>A	c.(1852-1854)acC>acA	p.T618T	KCNH2_ENST00000392968.2_Silent_p.T522T|KCNH2_ENST00000430723.3_Silent_p.T618T|KCNH2_ENST00000330883.4_Silent_p.T278T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	618					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)	GGCTGCTGAAGGTGAAGTAGA	0.577																																					GBM(137;110 1844 13671 20123 45161)												0													104	90	95					7																	150648627		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1854C>A	7.37:g.150648627G>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.T618	ENST00000262186.5	37	c.1854	CCDS5910.1	7																																																																																			KCNH2	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000055118		0.577	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2		0	77	0	G	NM_000238		150648627	-1			no_errors	ENST00000262186	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T	T	150648627	G	T	150648627	2	4	145	1	0	0	0	0	0	0	0	1	8059	987	35	3		3	KCNH2	7	150648627	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	33216604	150648627	8490036	109	36894											
PAXIP1	22976	genome.wustl.edu	37	chr7	154760267	154760269	+	In_Frame_Del	DEL	CTG	CTG	-																															ggcgctgtctgactttgcatCtgctgctgctgctgctgctg																								rs141168451		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr7:154760267_154760269delCTG	ENST00000404141.1	-	7	1796_1798	c.1642_1644delCAG	c.(1642-1644)cagdel	p.Q548del	PAXIP1_ENST00000397192.1_In_Frame_Del_p.Q548del|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	548	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	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)		GACTTTGCATctgctgctgctgc	0.626																																																	0										135,3467		9,117,1675						-0.6	0		dbSNP_134	18	258,6344		17,224,3060	no	coding	PAXIP1	NM_007349.3		26,341,4735	A1A1,A1R,RR		3.9079,3.7479,3.8514				393,9811				SO:0001651	inframe_deletion	0			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.1642_1644delCAG	7.37:g.154760276_154760278delCTG	ENSP00000384048:p.Gln548del		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	In_Frame_Del	DEL	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q548in_frame_del	ENST00000404141.1	37	c.1644_1642	CCDS47753.1	7																																																																																			PAXIP1	-	NULL	ENSG00000157212		0.626	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1		0	32	0	CTG	NM_007349		154760269	-1	tier1		no_errors	ENST00000397192	ensembl	human	known	74_37	in_frame_del	11.54	23	3	DEL	0.709:0.971:0.997	-	-	154760269	CTG	-	154760267	7	5	145	1	0	1	0	1	0	0	0	0	11526	912	32	0	1625	0	PAXIP1	7	154760267	In_Frame_Del	DEL	CTG	TCGA-R6-A6XQ-01B-11D-A33E-09	4111640	154760267	4378396	110	36895											
SLC7A2	6542	genome.wustl.edu	37	chr8	17400943	17400943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagacaccaaattatgccGctgcttatccaccatggacc	13	8	7	13	1	0	2	0	0	0	2	1	3	1	3	5	1	2	2	5	1	4	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr8:17400943G>T	ENST00000494857.1	+	3	313	c.95G>T	c.(94-96)cGc>cTc	p.R32L	SLC7A2_ENST00000398090.3_Missense_Mutation_p.R72L|SLC7A2_ENST00000522656.1_Missense_Mutation_p.R32L|SLC7A2_ENST00000004531.10_Missense_Mutation_p.R72L|SLC7A2_ENST00000470360.1_Missense_Mutation_p.R72L	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	32					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)	p.R72H(1)|p.R32H(1)		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)	AAATTATGCCGCTGCTTATCC	0.577																																																	2	Substitution - Missense(2)	large_intestine(2)											93	84	87					8																	17400943		2203	4300	6503	SO:0001583	missense	0			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.95G>T	8.37:g.17400943G>T	ENSP00000419140:p.Arg32Leu		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.R72L	ENST00000494857.1	37	c.215	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.417886	0.96092	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.95447	-3.47;-3.47;-3.71;-3.51;-3.71	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.971;0.997;0.991	D	0.97969	1.0342	10	0.72032	D	0.01	.	19.2514	0.93926	0.0:0.0:1.0:0.0	.	72;72;32	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	L	32;32;72;72;72	ENSP00000419140:R32L;ENSP00000430464:R32L;ENSP00000419873:R72L;ENSP00000004531:R72L;ENSP00000381164:R72L	ENSP00000004531:R72L	R	+	2	0	SLC7A2	17445322	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.823000	0.99369	2.630000	0.89119	0.655000	0.94253	CGC	SLC7A2	-	tigrfam_Cat_AA_permease	ENSG00000003989		0.577	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3		0	88	0	G	NM_003046		17400943	1			no_errors	ENST00000004531	ensembl	human	known	74_37	missense	5.66	49	3	SNP	1.000	T	T	17400943	G	T	17400943	3	4	145	1	0	0	0	0	1	0	0	0	14742	1087	38	2	221	2	SLC7A2	8	17400943	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		17400943	128963079	111	36896											
PPP3CC	5533	genome.wustl.edu	37	chr8	22398187	22398187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgaagaagcgcgaggtctgGaccgaattaatgagcgaatg	13	8	14	6	4	1	3	0	2	1	1	1	7	1	4	1	2	2	0	1	2	5	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr8:22398187G>T	ENST00000240139.5	+	14	1738	c.1411G>T	c.(1411-1413)Gac>Tac	p.D471Y	RP11-582J16.4_ENST00000514980.1_RNA|PPP3CC_ENST00000289963.8_Missense_Mutation_p.D461Y|PPP3CC_ENST00000397775.3_Missense_Mutation_p.D480Y	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	471					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GCGAGGTCTGGACCGAATTAA	0.517																																																	0													118	116	116					8																	22398187		2203	4300	6503	SO:0001583	missense	0				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.1411G>T	8.37:g.22398187G>T	ENSP00000240139:p.Asp471Tyr		B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.D471Y	ENST00000240139.5	37	c.1411	CCDS34859.1	8	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778434	0.90195	.	.	ENSG00000120910	ENST00000240139;ENST00000289963;ENST00000397775	T;T;T	0.05855	3.38;3.38;3.38	5.43	5.43	0.79202	.	0.099065	0.64402	D	0.000002	T	0.28101	0.0693	M	0.78916	2.43	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	0.01004	-1.1484	10	0.87932	D	0	-26.1131	18.0311	0.89285	0.0:0.0:1.0:0.0	.	480;461;471	B4DRT5;P48454-2;P48454	.;.;PP2BC_HUMAN	Y	471;461;480	ENSP00000240139:D471Y;ENSP00000289963:D461Y;ENSP00000380878:D480Y	ENSP00000240139:D471Y	D	+	1	0	PPP3CC	22454132	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.647000	0.98478	2.543000	0.85770	0.655000	0.94253	GAC	PPP3CC	-	NULL	ENSG00000120910		0.517	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP3CC	HGNC	protein_coding	OTTHUMT00000375652.1	-	0	23	0	G	NM_005605		22398187	1	tier1	-	no_errors	ENST00000240139	ensembl	human	known	74_37	missense	57.14	3	4	SNP	1.000	T	T	22398187	G	T	22398187	3	4	145	1	0	0	0	0	1	0	0	0	12441	1174	41	3	1465	3	PPP3CC	8	22398187	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	4997244	22398187	123965835	112	36897											
ANK1	286	genome.wustl.edu	37	chr8	41574498	41574498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcattgactttggctttGttctggagtaaatatttggc	7	18	11	5	0	1	1	0	1	1	0	1	2	1	2	0	4	0	4	0	4	3	8			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr8:41574498G>T	ENST00000347528.4	-	13	1460	c.1377C>A	c.(1375-1377)aaC>aaA	p.N459K	ANK1_ENST00000396945.1_Missense_Mutation_p.N459K|ANK1_ENST00000396942.1_Missense_Mutation_p.N459K|ANK1_ENST00000265709.8_Missense_Mutation_p.N492K|ANK1_ENST00000289734.7_Missense_Mutation_p.N459K|ANK1_ENST00000352337.4_Missense_Mutation_p.N459K|ANK1_ENST00000379758.2_Missense_Mutation_p.N459K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	459	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTTGGCTTTGTTCTGGAGTA	0.483																																																	0													279	247	258					8																	41574498		2203	4300	6503	SO:0001583	missense	0			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.1377C>A	8.37:g.41574498G>T	ENSP00000339620:p.Asn459Lys		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.N459K	ENST00000347528.4	37	c.1377	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739463	0.69304	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.31	3.52	0.40303	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	N	0.21583	0.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.99;0.971;0.998	T	0.63453	-0.6634	10	0.54805	T	0.06	.	8.8449	0.35164	0.2309:0.0:0.7691:0.0	.	492;459;459;459;459	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	K	459;459;459;459;459;459;492;459	ENSP00000339620:N459K;ENSP00000289734:N459K;ENSP00000369082:N459K;ENSP00000380149:N459K;ENSP00000380147:N459K;ENSP00000309131:N459K;ENSP00000265709:N492K	ENSP00000265709:N492K	N	-	3	2	ANK1	41693655	0.992000	0.36948	1.000000	0.80357	0.984000	0.73092	0.329000	0.19698	0.739000	0.32628	-0.350000	0.07774	AAC	ANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000029534		0.483	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1		0	80	0	G	NM_020475		41574498	-1			no_errors	ENST00000396942	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	41574498	G	T	41574498	3	4	145	1	0	0	0	0	1	0	0	0	620	1368	48	3	4742	3	ANK1	8	41574498	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	19176311	41574498	104789524	113	36898											
C8orf34	116328	genome.wustl.edu	37	chr8	69728126	69728126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttttgttgtgcaggttccGctgatcttcttctttgcgtt	2	21	9	9	2	4	1	0	1	4	0	5	1	5	1	1	1	2	5	1	1	0	8			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr8:69728126G>T	ENST00000539993.1	+	13	1846	c.1297G>T	c.(1297-1299)Gct>Tct	p.A433S	C8orf34_ENST00000337103.4_Missense_Mutation_p.A408S|C8orf34_ENST00000518698.1_Missense_Mutation_p.A519S			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	433										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)			TGCAGGTTCCGCTGATCTTCT	0.448																																																	0													371	319	337					8																	69728126		2203	4300	6503	SO:0001583	missense	0			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.1297G>T	8.37:g.69728126G>T	ENSP00000438159:p.Ala433Ser		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.A519S	ENST00000539993.1	37	c.1555		8	.	.	.	.	.	.	.	.	.	.	G	8.668	0.902114	0.17760	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103	T;T;T	0.52526	0.66;0.78;0.77	4.2	2.41	0.29592	.	0.525534	0.18828	N	0.130077	T	0.25901	0.0631	N	0.14661	0.345	0.22968	N	0.998495	B	0.33883	0.43	B	0.33799	0.17	T	0.11108	-1.0601	9	.	.	.	-0.6464	6.6945	0.23191	0.2121:0.0:0.7879:0.0	.	433	Q49A92	CH034_HUMAN	S	519;433;408	ENSP00000427820:A519S;ENSP00000438159:A433S;ENSP00000337174:A408S	.	A	+	1	0	C8orf34	69890680	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	0.979000	0.29500	0.735000	0.32537	-0.145000	0.13849	GCT	C8orf34	-	NULL	ENSG00000165084		0.448	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding			0	32	0	G	NM_052958		69728126	1			no_errors	ENST00000518698	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	69728126	G	T	69728126	3	4	145	1	0	0	0	0	1	0	0	0	2429	1087	38	2	1268	2	C8orf34	8	69728126	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	28153628	69728126	76635896	114	36899											
ZFHX4	79776	genome.wustl.edu	37	chr8	77765710	77765710	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatacgctttttaaggaaCgacagagaaataaagattca	19	9	8	5	2	1	2	1	0	0	2	1	6	1	3	0	1	2	1	0	1	7	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr8:77765710C>T	ENST00000521891.2	+	10	7001	c.6553C>T	c.(6553-6555)Cga>Tga	p.R2185*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.R2140*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.R2159*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.R2140*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2140					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.R2169R(1)|p.R2169*(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)			TTTTAAGGAACGACAGAGAAA	0.378										HNSCC(33;0.089)																																							2	Substitution - Nonsense(1)|Substitution - coding silent(1)	lung(1)|endometrium(1)											128	124	125					8																	77765710		1844	4090	5934	SO:0001587	stop_gained	0				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.6553C>T	8.37:g.77765710C>T	ENSP00000430497:p.Arg2185*		G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.R2185*	ENST00000521891.2	37	c.6553	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	47	13.547881	0.99749	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	3.92	0.775	0.18527	.	0.000000	0.38381	U	0.001717	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2325	0.54497	0.4463:0.5537:0.0:0.0	.	.	.	.	X	2185;2169;2140;2140;2159	.	ENSP00000050961:R2140X	R	+	1	2	ZFHX4	77928265	0.775000	0.28604	0.974000	0.42286	0.623000	0.37688	0.376000	0.20535	0.036000	0.15547	0.455000	0.32223	CGA	ZFHX4	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000091656		0.378	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	56	0	C	NM_024721		77765710	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	nonsense	25.00	18	6	SNP	1.000	T	T	77765710	C	T	77765710	4	4	145	1	0	0	0	0	0	1	0	0	17683	528	19	1	6587	1	ZFHX4	8	77765710	Nonsense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	8037584	77765710	68598312	115	36900											
MMP16	4325	genome.wustl.edu	37	chr8	89068395	89068395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttttcccgacgtcctccCaccaaatggctgaatcaata	11	10	7	13	2	1	1	1	1	0	0	4	2	4	1	4	2	0	2	4	2	4	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr8:89068395C>A	ENST00000286614.6	-	8	1615	c.1334G>T	c.(1333-1335)tGg>tTg	p.W445L		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	445					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W445*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GACGTCCTCCCACCAAATGGC	0.418																																																	1	Substitution - Nonsense(1)	cervix(1)											118	111	113					8																	89068395		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1334G>T	8.37:g.89068395C>A	ENSP00000286614:p.Trp445Leu		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.W445L	ENST00000286614.6	37	c.1334	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.396043	0.96009	.	.	ENSG00000156103	ENST00000286614	T	0.08282	3.11	5.91	5.91	0.95273	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.21109	-1.0255	10	0.52906	T	0.07	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	445	P51512	MMP16_HUMAN	L	445	ENSP00000286614:W445L	ENSP00000286614:W445L	W	-	2	0	MMP16	89137511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.793000	0.96121	0.655000	0.94253	TGG	MMP16	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat	ENSG00000156103		0.418	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2		0	62	0	C	NM_005941		89068395	-1			no_errors	ENST00000286614	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A	A	89068395	C	A	89068395	3	1	145	1	0	0	0	0	1	0	0	0	9693	595	21	3	501	3	MMP16	8	89068395	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	11302685	89068395	57295627	116	36901											
RAD54B	25788	genome.wustl.edu	37	chr8	95419670	95419670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatttttaaaatcttacttgGcgtatatgggtcatggcgtg	9	17	10	5	2	2	0	1	0	1	0	2	0	2	0	0	3	1	1	0	3	6	8	rs531560568		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr8:95419670G>T	ENST00000336148.5	-	5	902	c.778C>A	c.(778-780)Cca>Aca	p.P260T		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	260					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)			ATCTTACTTGGCGTATATGGG	0.284								Direct reversal of damage;Homologous recombination																																									0													58	57	57					8																	95419670		2203	4300	6503	SO:0001583	missense	0			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.778C>A	8.37:g.95419670G>T	ENSP00000336606:p.Pro260Thr		F6WBS8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P260T	ENST00000336148.5	37	c.778	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648071	0.47258	.	.	ENSG00000197275	ENST00000336148	D	0.93247	-3.19	5.75	4.88	0.63580	.	0.218156	0.47852	D	0.000209	D	0.90611	0.7056	M	0.72894	2.215	0.80722	D	1	P	0.42961	0.795	B	0.35727	0.209	D	0.89036	0.3445	10	0.40728	T	0.16	.	10.58	0.45250	0.0704:0.0:0.7897:0.1399	.	260	Q9Y620	RA54B_HUMAN	T	260	ENSP00000336606:P260T	ENSP00000336606:P260T	P	-	1	0	RAD54B	95488846	1.000000	0.71417	0.886000	0.34754	0.830000	0.47004	2.221000	0.42917	1.427000	0.47276	-0.145000	0.13849	CCA	RAD54B	-	superfamily_P-loop_NTPase	ENSG00000197275		0.284	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	-	0	35	0	G	NM_012415		95419670	-1	tier1	-	no_errors	ENST00000336148	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	95419670	G	T	95419670	3	4	145	1	0	0	0	0	1	0	0	0	13037	1203	42	3	1998	3	RAD54B	8	95419670	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	6351275	95419670	50944352	117	36902											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110465003	110465003	+	Frame_Shift_Del	DEL	A	A	-																															tccaatttctcatgggggggAaaatctcccccagaagaagg																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr8:110465003delA	ENST00000378402.5	+	43	6668	c.6564delA	c.(6562-6564)ggafs	p.G2188fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2188	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATGGGGGGGAAAATCTCCCC	0.393										HNSCC(38;0.096)																																							0										31,3475		13,5,1735	42	39	40			5.8	1	8		40	75,7737		33,9,3864	no	frameshift	PKHD1L1	NM_177531.4		46,14,5599	A1A1,A1R,RR		0.9601,0.8842,0.9366			110465003	106,11212	1811	4075	5886	SO:0001589	frameshift_variant	0			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.6564delA	8.37:g.110465003delA	ENSP00000367655:p.Gly2188fs		Q567P2|Q9UF27	Frame_Shift_Del	DEL	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.K2189fs	ENST00000378402.5	37	c.6564	CCDS47911.1	8																																																																																			PKHD1L1	-	pfam_G8_domain	ENSG00000205038		0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0	67	0	A	NM_177531		110465003	1	tier1		no_errors	ENST00000378402	ensembl	human	known	74_37	frame_shift_del	20.59	27	7	DEL	0.001	-	-	110465003	A	-	110465003	7	5	145	1	0	1	0	1	0	0	0	0	12011	233	9	0	6734	0	PKHD1L1	8	110465003	Frame_Shift_Del	DEL	A	TCGA-R6-A6XQ-01B-11D-A33E-09	15045333	110465003	35899019	118	36903											
GSDMC	56169	genome.wustl.edu	37	chr8	130789632	130789632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctaggactgaagaacttgGctccaggatgtcattgaggg	11	9	13	8	0	1	3	1	2	0	1	2	5	2	5	2	4	1	1	2	4	3	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr8:130789632G>A	ENST00000276708.4	-	2	1083	c.202C>T	c.(202-204)Cca>Tca	p.P68S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	68						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GAAGAACTTGGCTCCAGGATG	0.433																																																	0													96	85	89					8																	130789632		2203	4300	6503	SO:0001583	missense	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.202C>T	8.37:g.130789632G>A	ENSP00000276708:p.Pro68Ser		Q5XKF3|Q6P494	Missense_Mutation	SNP	pfam_Gasdermin	p.P68S	ENST00000276708.4	37	c.202	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	G	9.748	1.166728	0.21621	.	.	ENSG00000147697	ENST00000276708	T	0.33216	1.42	4.15	2.34	0.29019	.	0.640803	0.14159	N	0.337502	T	0.38268	0.1034	L	0.52905	1.665	0.20074	N	0.999934	D	0.69078	0.997	P	0.55871	0.786	T	0.11817	-1.0572	10	0.40728	T	0.16	.	6.5584	0.22474	0.223:0.0:0.777:0.0	.	68	Q9BYG8	GSDMC_HUMAN	S	68	ENSP00000276708:P68S	ENSP00000276708:P68S	P	-	1	0	GSDMC	130858814	0.996000	0.38824	0.071000	0.20095	0.054000	0.15201	1.469000	0.35343	0.524000	0.28502	-0.216000	0.12614	CCA	GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.433	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	-	0	48	0	G			130789632	-1	tier1	-	no_errors	ENST00000276708	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.259	A	A	130789632	G	A	130789632	3	1	145	1	0	0	0	0	1	0	0	0	6845	1203	42	3	1376	3	GSDMC	8	130789632	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	20324629	130789632	15574390	119	36904											
ADCY8	114	genome.wustl.edu	37	chr8	131861901	131861901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aatggatgcaaagatgatgaCgttccgggccaaataggtct	13	9	12	7	2	1	3	0	2	1	1	2	4	2	4	2	3	1	2	2	3	4	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr8:131861901C>T	ENST00000286355.5	-	10	4451	c.2359G>A	c.(2359-2361)Gtc>Atc	p.V787I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	787					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)			AAGATGATGACGTTCCGGGCC	0.463										HNSCC(32;0.087)																																							0													132	123	126					8																	131861901		2203	4300	6503	SO:0001583	missense	0			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.2359G>A	8.37:g.131861901C>T	ENSP00000286355:p.Val787Ile			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V787I	ENST00000286355.5	37	c.2359	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892554	0.33442	.	.	ENSG00000155897	ENST00000286355	T	0.45668	0.89	5.25	3.44	0.39384	.	0.412422	0.25714	N	0.028786	T	0.24122	0.0584	N	0.25647	0.755	0.80722	D	1	B	0.31077	0.307	B	0.20384	0.029	T	0.04078	-1.0979	10	0.13470	T	0.59	.	10.3251	0.43787	0.0:0.8408:0.0:0.1592	.	787	P40145	ADCY8_HUMAN	I	787	ENSP00000286355:V787I	ENSP00000286355:V787I	V	-	1	0	ADCY8	131931083	1.000000	0.71417	0.949000	0.38748	0.999000	0.98932	4.588000	0.60999	0.585000	0.29608	0.655000	0.94253	GTC	ADCY8	-	NULL	ENSG00000155897		0.463	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	34	0	C			131861901	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	42.86	8	6	SNP	0.999	T	T	131861901	C	T	131861901	3	4	145	1	0	0	0	0	1	0	0	0	300	536	19	1	1432	1	ADCY8	8	131861901	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	1072269	131861901	14502121	120	36905											
COL22A1	169044	genome.wustl.edu	37	chr8	139715569	139715569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agttccaggtaacccgggagGgcctgcaggaccagcttcac	9	6	13	13	1	1	0	1	0	0	0	2	2	2	2	4	4	3	4	4	4	1	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr8:139715569G>A	ENST00000303045.6	-	31	2985	c.2539C>T	c.(2539-2541)Cct>Tct	p.P847S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P847S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	847	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)			AACCCGGGAGGGCCTGCAGGA	0.478										HNSCC(7;0.00092)																																							0													84	83	83					8																	139715569		2203	4300	6503	SO:0001583	missense	0			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.2539C>T	8.37:g.139715569G>A	ENSP00000303153:p.Pro847Ser		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.P847S	ENST00000303045.6	37	c.2539	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	7.426	0.637752	0.14386	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97665	-4.48;-4.48	3.95	3.95	0.45737	.	0.000000	0.47093	U	0.000257	D	0.97114	0.9057	M	0.64567	1.98	0.39990	D	0.975026	D;D	0.89917	1.0;0.993	D;D	0.83275	0.996;0.968	D	0.95110	0.8237	10	0.06891	T	0.86	.	11.7937	0.52084	0.0:0.0:1.0:0.0	.	847;847	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	847;847;560	ENSP00000303153:P847S;ENSP00000387655:P847S	ENSP00000303153:P847S	P	-	1	0	COL22A1	139784751	0.995000	0.38212	0.792000	0.32020	0.516000	0.34256	3.698000	0.54771	2.482000	0.83794	0.563000	0.77884	CCT	COL22A1	-	pfam_Collagen	ENSG00000169436		0.478	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	-	0	69	0	G	XM_291257		139715569	-1	tier1	-	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	38.30	28	18	SNP	0.809	A	A	139715569	G	A	139715569	3	1	145	1	0	0	0	0	1	0	0	0	3688	1232	43	3	2481	3	COL22A1	8	139715569	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	7853668	139715569	6648453	121	36906											
PTPRD	5789	genome.wustl.edu	37	chr9	8317914	8317914	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agctgcccaggtactctagtGcggcacgataggaaaactga	12	7	12	10	2	1	1	0	1	1	0	1	3	1	2	1	3	5	3	1	3	5	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr9:8317914G>T	ENST00000381196.4	-	43	6242	c.5699C>A	c.(5698-5700)gCa>gAa	p.A1900E	PTPRD_ENST00000397617.3_Missense_Mutation_p.A1493E|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1900E|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1900E|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1493E|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1490E|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1490E|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1493E|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1887E|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1878E|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1494E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1900	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)		GTACTCTAGTGCGGCACGATA	0.428										TSP Lung(15;0.13)																																							0													135	140	138					9																	8317914		2203	4299	6502	SO:0001583	missense	0			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.5699C>A	9.37:g.8317914G>T	ENSP00000370593:p.Ala1900Glu		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.A1900E	ENST00000381196.4	37	c.5699	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022662	0.54683	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.103125	0.64402	D	0.000004	T	0.38825	0.1055	M	0.80982	2.52	0.50171	D	0.99985	B;B;B;B;D;B;D;P;D	0.64830	0.037;0.037;0.037;0.037;0.983;0.03;0.994;0.53;0.975	B;B;B;B;P;B;P;B;P	0.62813	0.046;0.046;0.046;0.046;0.871;0.027;0.907;0.28;0.852	T	0.10177	-1.0641	10	0.87932	D	0	.	16.0651	0.80865	0.0:0.1332:0.8668:0.0	.	1493;1484;1493;1494;1490;1490;1887;1900;1900	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	E	1900;1900;1887;1878;1494;1493;1490;1490;1371;1900;1493;1493	ENSP00000370593:A1900E;ENSP00000348812:A1900E;ENSP00000353187:A1887E;ENSP00000351293:A1878E;ENSP00000347373:A1494E;ENSP00000380741:A1493E;ENSP00000380735:A1490E;ENSP00000440515:A1490E;ENSP00000438164:A1900E;ENSP00000417093:A1493E;ENSP00000380731:A1493E	ENSP00000340918:A1371E	A	-	2	0	PTPRD	8307914	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.643000	0.61390	2.885000	0.99019	0.655000	0.94253	GCA	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000153707		0.428	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	20	0	G			8317914	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	8317914	G	T	8317914	3	4	145	1	0	0	0	0	1	0	0	0	12844	1319	46	3	43	3	PTPRD	9	8317914	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		8317914	132895517	122	36907											
GOLM1	51280	genome.wustl.edu	37	chr9	88648293	88648293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagtcatcttctcctctcaGtttctgctggtttctccctg	3	18	7	13	0	6	0	2	0	5	0	9	0	6	0	2	1	1	4	2	1	1	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr9:88648293G>T	ENST00000388712.3	-	9	1201	c.1033C>A	c.(1033-1035)Ctg>Atg	p.L345M	GOLM1_ENST00000388711.3_Missense_Mutation_p.L345M|GOLM1_ENST00000257504.6_5'Flank	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	345					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.L345L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TCTCCTCTCAGTTTCTGCTGG	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											203	169	180					9																	88648293		2203	4299	6502	SO:0001583	missense	0			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.1033C>A	9.37:g.88648293G>T	ENSP00000373364:p.Leu345Met		Q6IAF4|Q9NRB9	Missense_Mutation	SNP	NULL	p.L345M	ENST00000388712.3	37	c.1033	CCDS35054.1	9	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542263	0.65198	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.51071	0.72;0.72	4.79	0.404	0.16355	.	0.880500	0.09710	N	0.765858	T	0.41003	0.1140	L	0.47716	1.5	0.09310	N	1	P	0.44195	0.828	P	0.45138	0.471	T	0.27673	-1.0067	10	0.51188	T	0.08	-28.0831	3.4952	0.07653	0.0965:0.3404:0.4102:0.1529	.	345	Q8NBJ4	GOLM1_HUMAN	M	345	ENSP00000373364:L345M;ENSP00000373363:L345M	ENSP00000373363:L345M	L	-	1	2	GOLM1	87838113	0.000000	0.05858	0.000000	0.03702	0.815000	0.46073	-0.028000	0.12350	-0.099000	0.12263	0.655000	0.94253	CTG	GOLM1	-	NULL	ENSG00000135052		0.428	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	HGNC	protein_coding	OTTHUMT00000052904.2		0	44	0	G	NM_177937		88648293	-1			no_errors	ENST00000388711	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.000	T	T	88648293	G	T	88648293	3	4	145	1	0	0	0	0	1	0	0	0	6593	1020	36	3	180	3	GOLM1	9	88648293	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	80330379	88648293	52565138	123	36908											
SEMA4D	10507	genome.wustl.edu	37	chr9	91993636	91993636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcagtctccatctgcgtCtgagtcagcgaacttcagct	7	11	9	14	2	6	1	3	1	3	0	7	2	6	1	2	0	4	1	2	0	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr9:91993636C>T	ENST00000450295.1	-	16	3348	c.2572G>A	c.(2572-2574)Gac>Aac	p.D858N	SEMA4D_ENST00000356444.2_Missense_Mutation_p.D858N|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.D858N|SEMA4D_ENST00000438547.2_Missense_Mutation_p.D858N|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	858					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCATCTGCGTCTGAGTCAGCG	0.582																																																	0													91	70	77					9																	91993636		2203	4300	6503	SO:0001583	missense	0			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.2572G>A	9.37:g.91993636C>T	ENSP00000416523:p.Asp858Asn		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.D858N	ENST00000450295.1	37	c.2572	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915717	0.73098	.	.	ENSG00000187764	ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.88	4.88	0.63580	.	0.288297	0.27572	N	0.018773	T	0.48150	0.1484	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.48790	-0.9004	10	0.87932	D	0	.	18.601	0.91247	0.0:1.0:0.0:0.0	.	858	Q92854	SEM4D_HUMAN	N	858	ENSP00000416523:D858N;ENSP00000405102:D858N;ENSP00000348822:D858N;ENSP00000388768:D858N	ENSP00000348822:D858N	D	-	1	0	SEMA4D	91183456	1.000000	0.71417	0.842000	0.33263	0.009000	0.06853	6.976000	0.76135	2.707000	0.92482	0.561000	0.74099	GAC	SEMA4D	-	NULL	ENSG00000187764		0.582	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	-	0	59	0	C	NM_006378		91993636	-1	tier1	-	no_errors	ENST00000356444	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.997	T	T	91993636	C	T	91993636	3	4	145	1	0	0	0	0	1	0	0	0	14079	913	32	3	590	3	SEMA4D	9	91993636	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	3345343	91993636	49219795	124	36909											
FGD3	89846	genome.wustl.edu	37	chr9	95797636	95797636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggacggccggctgccccGcaccatccctctccccagct	5	5	10	21	3	1	0	0	0	1	0	3	1	2	1	7	3	2	4	7	3	0	0	rs200577392	byFrequency	TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr9:95797636G>T	ENST00000375482.3	+	18	2439	c.1943G>T	c.(1942-1944)cGc>cTc	p.R648L	FGD3_ENST00000538555.1_Missense_Mutation_p.R251L|FGD3_ENST00000416701.2_Missense_Mutation_p.R647L|FGD3_ENST00000337352.6_Missense_Mutation_p.R648L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	648	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)	p.R648L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGCTGCCCCGCACCATCCCT	0.682																																																	1	Substitution - Missense(1)	lung(1)											24	29	27					9																	95797636		2109	4237	6346	SO:0001583	missense	0			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.1943G>T	9.37:g.95797636G>T	ENSP00000364631:p.Arg648Leu		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R648L	ENST00000375482.3	37	c.1943	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	g	7.835	0.720704	0.15372	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.72505	-0.57;-0.56;-0.57;-0.66	4.37	-6.13	0.02118	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	1.764920	0.03294	N	0.188010	T	0.57460	0.2055	M	0.62723	1.935	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.17098	0.017;0.002	T	0.41251	-0.9519	10	0.11485	T	0.65	.	0.7623	0.01009	0.3834:0.1186:0.259:0.2391	.	647;648	F8W7P2;Q5JSP0	.;FGD3_HUMAN	L	648;647;648;251	ENSP00000364631:R648L;ENSP00000413833:R647L;ENSP00000336914:R648L;ENSP00000442560:R251L	ENSP00000336914:R648L	R	+	2	0	FGD3	94837457	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-0.600000	0.05693	-1.516000	0.01782	-1.418000	0.01112	CGC	FGD3	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000127084		0.682	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1		0	62	0	G	NM_033086		95797636	1			no_errors	ENST00000337352	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.000	T	T	95797636	G	T	95797636	3	4	145	1	0	0	0	0	1	0	0	0	5856	1087	38	2	2005	2	FGD3	9	95797636	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3804000	95797636	45415795	125	36910											
STX17	55014	genome.wustl.edu	37	chr9	102730928	102730928	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagctgtccagatcttccCagccaaactgacaagaaatg	13	8	7	13	0	1	3	0	1	1	2	4	3	4	3	4	0	3	1	4	0	3	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr9:102730928C>G	ENST00000259400.6	+	8	1018	c.882C>G	c.(880-882)ccC>ccG	p.P294P	STX17_ENST00000534052.1_Silent_p.P294P|STX17_ENST00000525640.1_Silent_p.P294P	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	294					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)				CAGATCTTCCCAGCCAAACTG	0.443																																																	0													73	76	75					9																	102730928		2203	4300	6503	SO:0001819	synonymous_variant	0			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.882C>G	9.37:g.102730928C>G			Q4VXC2	Silent	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.P294	ENST00000259400.6	37	c.882	CCDS6745.1	9																																																																																			STX17	-	NULL	ENSG00000136874		0.443	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	STX17	HGNC	protein_coding	OTTHUMT00000053398.3	-	0	45	0	C	NM_017919		102730928	1	tier1	-	no_errors	ENST00000259400	ensembl	human	known	74_37	silent	75.00	3	9	SNP	0.995	G	G	102730928	C	G	102730928	2	3	145	1	0	0	0	0	0	0	0	1	15387	581	21	5		5	STX17	9	102730928	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	6933292	102730928	38482503	126	36911											
DBC1	1620	genome.wustl.edu	37	chr9	121930059	121930059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccatgcggttcttgttgCtcttgagagtgagggacatg	7	13	14	7	1	2	2	0	2	2	1	3	4	3	3	1	2	2	3	1	2	0	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr9:121930059C>T	ENST00000265922.3	-	8	2050	c.1589G>A	c.(1588-1590)aGc>aAc	p.S530N	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	530					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)											GTTCTTGTTGCTCTTGAGAGT	0.557																																																	0													132	102	112					9																	121930059		2203	4300	6503	SO:0001583	missense	0			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.1589G>A	9.37:g.121930059C>T	ENSP00000265922:p.Ser530Asn		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S530N	ENST00000265922.3	37	c.1589	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076690	0.76415	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.21543	2.0	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	M	0.61703	1.905	0.80722	D	1	D	0.54601	0.967	P	0.57776	0.827	T	0.20438	-1.0275	10	0.87932	D	0	-30.9933	19.91	0.97023	0.0:1.0:0.0:0.0	.	530	O60477	DBC1_HUMAN	N	530	ENSP00000265922:S530N	ENSP00000265922:S530N	S	-	2	0	DBC1	120969880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.702000	0.92279	0.655000	0.94253	AGC	BRINP1	-	NULL	ENSG00000078725		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	45	0	C	NM_014618		121930059	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	T	T	121930059	C	T	121930059	3	4	145	1	0	0	0	0	1	0	0	0	4256	797	28	3	700	3	DBC1	9	121930059	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	19199131	121930059	19283372	127	36912											
DAB2IP	153090	genome.wustl.edu	37	chr9	124530738	124530738	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaggaggaatacatgtcCttcatgaaccagttcctaga	14	9	9	9	0	1	2	1	1	0	1	3	4	3	4	3	2	3	2	3	2	5	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr9:124530738C>A	ENST00000408936.3	+	10	1907	c.1725C>A	c.(1723-1725)tcC>tcA	p.S575S	DAB2IP_ENST00000259371.2_Silent_p.S547S|DAB2IP_ENST00000309989.1_Silent_p.S451S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	575					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						AATACATGTCCTTCATGAACC	0.587																																																	0													139	121	127					9																	124530738		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1725C>A	9.37:g.124530738C>A			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.S575	ENST00000408936.3	37	c.1725		9																																																																																			DAB2IP	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP	ENSG00000136848		0.587	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	-	0	78	0	C	NM_032552		124530738	1	tier1	-	no_errors	ENST00000408936	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.905	A	A	124530738	C	A	124530738	2	1	145	1	0	0	0	0	0	0	0	1	4228	668	24	3		3	DAB2IP	9	124530738	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	2600679	124530738	16682693	128	36913											
NUP188	23511	genome.wustl.edu	37	chr9	131745618	131745618	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tggatgtcattgcttcttgtGtcaactgcttaactgttttg	6	19	9	7	0	3	0	2	0	1	0	3	1	3	1	0	1	4	3	0	1	2	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr9:131745618G>A	ENST00000372577.2	+	18	1864	c.1843G>A	c.(1843-1845)Gtc>Atc	p.V615I		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	615					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)		p.V615I(1)		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						TGCTTCTTGTGTCAACTGCTT	0.443																																																	1	Substitution - Missense(1)	urinary_tract(1)											218	203	208					9																	131745618		2203	4300	6503	SO:0001583	missense	0			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.1843G>A	9.37:g.131745618G>A	ENSP00000361658:p.Val615Ile		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.V615I	ENST00000372577.2	37	c.1843	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897802	0.91962	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.64085	-0.08	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	L	0.27053	0.805	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.67197	-0.5731	10	0.34782	T	0.22	-11.8947	18.5867	0.91192	0.0:0.0:1.0:0.0	.	615	Q5SRE5	NU188_HUMAN	I	504;615	ENSP00000361658:V615I	ENSP00000349125:V504I	V	+	1	0	NUP188	130785439	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.182000	0.94881	2.708000	0.92522	0.563000	0.77884	GTC	NUP188	-	pfam_Nucleoporin_Nup188	ENSG00000095319		0.443	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2		0	64	0	G			131745618	1			no_errors	ENST00000372577	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A	A	131745618	G	A	131745618	3	1	145	1	0	0	0	0	1	0	0	0	10797	1377	48	3	1913	3	NUP188	9	131745618	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	7214880	131745618	9467813	129	36914											
SARDH	1757	genome.wustl.edu	37	chr9	136559399	136559399	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaaaggcgggggccagCggggaggcctggtggctggg	5	5	21	10	2	1	0	1	0	0	0	1	1	1	1	3	9	1	1	3	9	1	1	rs377363025		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr9:136559399C>A	ENST00000371872.4	-	15	2159	c.1902G>T	c.(1900-1902)ccG>ccT	p.P634P	SARDH_ENST00000439388.1_Silent_p.P634P|SARDH_ENST00000422262.2_Silent_p.P466P|SARDH_ENST00000371868.1_Silent_p.P62P	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	634					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)		CGGGGGCCAGCGGGGAGGCCT	0.662																																																	0													21	19	20					9																	136559399		1993	3841	5834	SO:0001819	synonymous_variant	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1902G>T	9.37:g.136559399C>A			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.P634	ENST00000371872.4	37	c.1902	CCDS6978.1	9																																																																																			SARDH	-	pfam_GCV_T_N	ENSG00000123453		0.662	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	-	0	155	0	C			136559399	-1	tier1	-	no_errors	ENST00000371872	ensembl	human	known	74_37	silent	50.55	41	46	SNP	0.284	A	A	136559399	C	A	136559399	2	1	145	1	0	0	0	0	0	0	0	1	13886	755	27	2		2	SARDH	9	136559399	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	4813781	136559399	4654032	130	36915											
IDE	3416	genome.wustl.edu	37	chr10	94274768	94274768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttacatcaatgccttcttgGtttggtctagtctccagagt	7	16	8	10	0	4	1	1	0	3	1	5	1	4	1	2	2	2	1	2	2	3	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr10:94274768G>T	ENST00000265986.6	-	5	749	c.693C>A	c.(691-693)aaC>aaA	p.N231K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	231					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)"	TGCCTTCTTGGTTTGGTCTAG	0.358																																																	0													180	188	185					10																	94274768		2203	4300	6503	SO:0001583	missense	0			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.693C>A	10.37:g.94274768G>T	ENSP00000265986:p.Asn231Lys		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.N231K	ENST00000265986.6	37	c.693	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	G	1.658	-0.512309	0.04200	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T	0.29397	1.57	6.06	3.22	0.36961	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.161158	0.56097	D	0.000025	T	0.05502	0.0145	N	0.00289	-1.7	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28808	-1.0032	10	0.02654	T	1	-19.0163	5.615	0.17426	0.2641:0.0:0.6098:0.1261	.	231	P14735	IDE_HUMAN	K	231;217	ENSP00000265986:N231K	ENSP00000265986:N231K	N	-	3	2	IDE	94264748	0.974000	0.33945	1.000000	0.80357	0.996000	0.88848	0.284000	0.18864	0.913000	0.36797	-0.136000	0.14681	AAC	IDE	-	superfamily_Metalloenz_LuxS/M16	ENSG00000119912		0.358	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	-	0	75	0	G	NM_004969		94274768	-1	tier1	-	no_errors	ENST00000265986	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.999	T	T	94274768	G	T	94274768	3	4	145	1	0	0	0	0	1	0	0	0	7520	1252	44	3	2450	3	IDE	10	94274768	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		94274768	41259979	131	36916											
COL17A1	1308	genome.wustl.edu	37	chr10	105801271	105801271	+	Silent	SNP	T	T	A	0	1	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	ccgcgtgggccgggtgggccTgggggaccttgtaaattaag	6	8	18	9	3	0	0	0	0	0	0	0	1	0	1	4	5	0	1	4	5	3	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr10:105801271T>A	ENST00000353479.5	-	37	2867	c.2577A>T	c.(2575-2577)ccA>ccT	p.P859P	COL17A1_ENST00000369733.3_Silent_p.P859P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	859	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)		CGGGTGGGCCTGGGGGACCTT	0.517																																																	0													24	27	26					10																	105801271		2202	4300	6502	SO:0001819	synonymous_variant	0			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.2577A>T	10.37:g.105801271T>A			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	pfam_Collagen	p.P859	ENST00000353479.5	37	c.2577	CCDS7554.1	10																																																																																			COL17A1	-	NULL	ENSG00000065618		0.517	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	-	0	120	0	T	NM_130778, NM_000494		105801271	-1	tier1	-	no_errors	ENST00000353479	ensembl	human	known	74_37	silent	50.00	35	35	SNP	0.998	A	A	105801271	T	A	105801271	2	1	145	1	0	0	0	0	0	0	0	1	3681	1567	55	5		5	COL17A1	10	105801271	Silent	SNP	T	TCGA-R6-A6XQ-01B-11D-A33E-09	11526503	105801271	29733476	132	36917											
XPNPEP1	7511	genome.wustl.edu	37	chr10	111640657	111640657	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagctttggcgatgcaGatgggggtgtaaggcataca	10	10	14	7	1	1	1	1	0	0	1	1	2	1	1	0	4	3	4	0	4	2	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr10:111640657G>T	ENST00000502935.1	-	11	1193	c.1074C>A	c.(1072-1074)atC>atA	p.I358I	XPNPEP1_ENST00000430337.1_5'Flank|XPNPEP1_ENST00000322238.8_Silent_p.I358I|XPNPEP1_ENST00000369680.4_Silent_p.I315I|XPNPEP1_ENST00000369683.1_Silent_p.I244I					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.I358I(1)|p.I315I(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TGGCGATGCAGATGGGGGTGT	0.567																																																	2	Substitution - coding silent(2)	urinary_tract(2)											110	86	94					10																	111640657		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1074C>A	10.37:g.111640657G>T				Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.I358	ENST00000502935.1	37	c.1074	CCDS7560.2	10																																																																																			XPNPEP1	-	NULL	ENSG00000108039		0.567	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2		0	47	0	G			111640657	-1			no_errors	ENST00000502935	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.999	T	T	111640657	G	T	111640657	2	4	145	1	0	0	0	0	0	0	0	1	17491	932	33	3		3	XPNPEP1	10	111640657	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	5839386	111640657	23894090	133	36918											
GFRA1	2674	genome.wustl.edu	37	chr10	117884831	117884831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgatggtctgtcgcctcCgctctgtgcaggcgatgtcc	4	10	13	14	4	2	0	0	0	2	0	5	2	4	0	3	2	1	3	3	2	0	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr10:117884831C>T	ENST00000355422.6	-	6	1221	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	GFRA1_ENST00000439649.3_Missense_Mutation_p.R219Q|GFRA1_ENST00000544592.1_Missense_Mutation_p.R103Q|GFRA1_ENST00000369236.1_Missense_Mutation_p.R219Q	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	224					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTGTCGCCTCCGCTCTGTGCA	0.567																																					Ovarian(128;329 1725 45498 46808 50759)												0													80	68	72					10																	117884831		2203	4300	6503	SO:0001583	missense	0			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.671G>A	10.37:g.117884831C>T	ENSP00000347591:p.Arg224Gln		A8KA21|O15507|O43912	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.R224Q	ENST00000355422.6	37	c.671	CCDS44481.1	10	.	.	.	.	.	.	.	.	.	.	C	37	5.987554	0.97173	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.63744	-0.06;-0.06	5.99	5.99	0.97316	GDNF/GAS1 (2);	0.109281	0.64402	D	0.000014	D	0.83229	0.5209	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.937	D	0.84106	0.0398	10	0.54805	T	0.06	-8.0016	20.4777	0.99188	0.0:1.0:0.0:0.0	.	224;219	P56159;P56159-2	GFRA1_HUMAN;.	Q	224;219;219;103;219	ENSP00000358239:R219Q;ENSP00000442179:R103Q	ENSP00000347591:R219Q	R	-	2	0	GFRA1	117874821	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	CGG	GFRA1	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt	ENSG00000151892		0.567	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	-	0	43	0	C	NM_145793		117884831	-1	tier1	-	no_errors	ENST00000355422	ensembl	human	known	74_37	missense	53.57	13	15	SNP	1.000	T	T	117884831	C	T	117884831	3	4	145	1	0	0	0	0	1	0	0	0	6373	652	23	1	750	1	GFRA1	10	117884831	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	6244174	117884831	17649916	134	36919											
CPXM2	119587	genome.wustl.edu	37	chr10	125639812	125639812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggttctcataacttttttGttgctgtgtttacctaaagg	7	20	8	6	0	1	0	1	0	1	0	2	0	1	0	1	2	3	4	1	2	4	10			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr10:125639812G>T	ENST00000241305.3	-	2	472	c.318C>A	c.(316-318)aaC>aaA	p.N106K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	106					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)		TAACTTTTTTGTTGCTGTGTT	0.473																																																	0													191	180	184					10																	125639812		2203	4300	6503	SO:0001583	missense	0			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.318C>A	10.37:g.125639812G>T	ENSP00000241305:p.Asn106Lys		B4E3Q2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.N106K	ENST00000241305.3	37	c.318	CCDS7637.1	10	.	.	.	.	.	.	.	.	.	.	G	1.107	-0.659369	0.03454	.	.	ENSG00000121898	ENST00000241305;ENST00000418782	D	0.95821	-3.82	3.59	2.66	0.31614	.	0.770737	0.11881	N	0.520502	D	0.85805	0.5782	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.76446	-0.2956	10	0.02654	T	1	-11.5554	8.2981	0.31997	0.0:0.0:0.7647:0.2353	.	106	Q8N436	CPXM2_HUMAN	K	106	ENSP00000241305:N106K	ENSP00000241305:N106K	N	-	3	2	CPXM2	125629802	0.998000	0.40836	1.000000	0.80357	0.283000	0.27025	1.361000	0.34136	1.040000	0.40099	0.655000	0.94253	AAC	CPXM2	-	NULL	ENSG00000121898		0.473	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1	-	0	58	0	G	NM_198148		125639812	-1	tier1	-	no_errors	ENST00000241305	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	125639812	G	T	125639812	3	4	145	1	0	0	0	0	1	0	0	0	3845	1368	48	3	2004	3	CPXM2	10	125639812	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	7754981	125639812	9894935	135	36920											
TUBGCP2	10844	genome.wustl.edu	37	chr10	135095762	135095762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccgggcccgctcctcggCccctgcgggcagccccagga	3	5	13	20	4	0	0	0	0	0	0	3	1	2	1	7	4	2	2	7	4	0	1	rs373693348		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr10:135095762C>A	ENST00000252936.3	-	15	2413	c.2374G>T	c.(2374-2376)Gcc>Tcc	p.A792S	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.A820S|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.A662S|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.A792S|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.A385S			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	792					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)		CGCTCCTCGGCCCCTGCGGGC	0.667																																																	0								C	SER/ALA	2,4402		0,2,2200	19	23	22		2374	3.1	0	10		22	0,8594		0,0,4297	no	missense	TUBGCP2	NM_006659.2	99	0,2,6497	AA,AC,CC		0.0,0.0454,0.0154	benign	792/903	135095762	2,12996	2202	4297	6499	SO:0001583	missense	0			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.2374G>T	10.37:g.135095762C>A	ENSP00000252936:p.Ala792Ser		B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	pfam_TUBGCP,superfamily_Ocr	p.A820S	ENST00000252936.3	37	c.2458	CCDS7676.1	10	.	.	.	.	.	.	.	.	.	.	C	2.642	-0.283935	0.05642	4.54E-4	0.0	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.29142	2.58;2.32;2.58;1.58;2.58	4.98	3.08	0.35506	.	0.614745	0.16852	N	0.196882	T	0.10895	0.0266	N	0.03115	-0.41	0.25110	N	0.990723	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.005;0.004;0.002	T	0.34153	-0.9840	10	0.07175	T	0.84	-13.6135	6.7554	0.23510	0.1758:0.7316:0.0:0.0926	.	820;820;792	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	S	792;662;792;385;820	ENSP00000252936:A792S;ENSP00000395666:A662S;ENSP00000357551:A792S;ENSP00000357550:A385S;ENSP00000446093:A820S	ENSP00000252936:A792S	A	-	1	0	TUBGCP2	134945752	0.866000	0.29940	0.046000	0.18839	0.005000	0.04900	0.366000	0.20365	0.776000	0.33473	0.561000	0.74099	GCC	TUBGCP2	-	NULL	ENSG00000130640		0.667	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1		0	66	0	C			135095762	-1			no_errors	ENST00000543663	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.504	A	A	135095762	C	A	135095762	3	1	145	1	0	0	0	0	1	0	0	0	16815	739	26	3	346	3	TUBGCP2	10	135095762	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	9455950	135095762	438985	136	36921											
OSBPL5	114879	genome.wustl.edu	37	chr11	3113730	3113730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctgctgcaaggtccGcaggatcccgtcttgctcaa	6	9	11	15	2	2	0	1	0	1	0	5	1	5	1	4	3	3	4	4	3	2	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:3113730G>A	ENST00000263650.7	-	19	2350	c.2191C>T	c.(2191-2193)Cgg>Tgg	p.R731W	OSBPL5_ENST00000389989.3_Missense_Mutation_p.R663W|OSBPL5_ENST00000348039.5_Missense_Mutation_p.R663W|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R362W|OSBPL5_ENST00000478260.1_Missense_Mutation_p.R185W|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R642W	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	731					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)		TGCAAGGTCCGCAGGATCCCG	0.697											OREG0020694	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													32	27	29					11																	3113730		2194	4285	6479	SO:0001583	missense	0			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.2191C>T	11.37:g.3113730G>A	ENSP00000263650:p.Arg731Trp	608	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R731W	ENST00000263650.7	37	c.2191	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825683	0.50739	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.47	2.58	0.30949	.	1.375470	0.04481	N	0.377845	T	0.19886	0.0478	N	0.08118	0	0.28202	N	0.927318	P;D;P	0.55800	0.933;0.973;0.933	B;B;B	0.41860	0.296;0.368;0.296	T	0.28933	-1.0028	10	0.52906	T	0.07	-0.5401	9.6725	0.40021	0.1735:0.0:0.8265:0.0	.	642;663;731	B4DVB0;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	W	185;731;663;284;642;362;663;350	ENSP00000437141:R185W;ENSP00000263650:R731W;ENSP00000374639:R663W;ENSP00000431412:R284W;ENSP00000433342:R642W;ENSP00000441551:R362W;ENSP00000302872:R663W	ENSP00000263650:R731W	R	-	1	2	OSBPL5	3070306	1.000000	0.71417	0.046000	0.18839	0.271000	0.26615	5.344000	0.65981	0.354000	0.24105	0.561000	0.74099	CGG	OSBPL5	-	NULL	ENSG00000021762		0.697	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	-	0	160	0	G			3113730	-1	tier1	-	no_errors	ENST00000263650	ensembl	human	known	74_37	missense	51.75	68	74	SNP	1.000	A	A	3113730	G	A	3113730	3	1	145	1	0	0	0	0	1	0	0	0	11319	1086	38	1	464	1	OSBPL5	11	3113730	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		3113730	131892786	137	36922											
SPON1	10418	genome.wustl.edu	37	chr11	14284473	14284473	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggaggcccgagagagcCggcggagtgagcagctgaag	10	2	21	8	3	0	3	0	2	0	1	0	8	0	6	2	5	3	2	2	5	1	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:14284473C>T	ENST00000534587.1	-	0	158				SPON1_ENST00000310358.7_RNA														p.R737W(1)									CCGAGAGAGCCGGCGGAGTGA	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											38	40	39					11																	14284473		1919	4114	6033			0																															11.37:g.14284473C>T				RNA	SNP	-	NULL	ENST00000534587.1	37	NULL		11	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872510	0.72180	.	.	ENSG00000152268	ENST00000310358	.	.	.	6.04	1.34	0.21922	.	0.045895	0.85682	D	0.000000	T	0.77068	0.4076	.	.	.	0.53005	D	0.999969	D	0.89917	1.0	D	0.72075	0.976	D	0.83492	0.0070	7	0.66056	D	0.02	.	14.4744	0.67537	0.5911:0.4089:0.0:0.0	.	738	Q9HCB6	SPON1_HUMAN	W	737	.	ENSP00000309297:R737W	R	+	1	2	SPON1	14241049	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.383000	0.34385	0.361000	0.24292	0.561000	0.74099	CGG	SPON1	-	-	ENSG00000152268		0.587	RP11-21L19.1-001	KNOWN	basic	antisense	SPON1	HGNC	antisense	OTTHUMT00000386031.1	-	0	50	0	C			14284473	1	tier1	-	no_errors	ENST00000310358	ensembl	human	known	74_37	rna	36.00	16	9	SNP	0.998	T	T	14284473	C	T	14284473	1	4	145	0	1	0	0	0	0	0	0	0	15129	643	23	1		1	SPON1	11	14284473	RNA	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	11170743	14284473	120722043	138	36923											
IGSF22	144110	genome.wustl.edu	37	chr11	18727656	18727656	+	IGR	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgcgtggcgccagtccttCttctcgtagggcttgagctt	3	12	14	12	4	2	1	0	1	2	0	4	1	3	1	2	3	1	3	2	3	1	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:18727656C>T	ENST00000280734.2	+	0	3595				IGSF22_ENST00000513874.1_Silent_p.K1206K|RP11-1081L13.4_ENST00000527285.1_RNA|IGSF22_ENST00000510673.1_5'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GCCAGTCCTTCTTCTCGTAGG	0.716																																																	0													47	51	50					11																	18727656		692	1591	2283	SO:0001628	intergenic_variant	0			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			11.37:g.18727656C>T			Q96AJ0	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K1206	ENST00000280734.2	37	c.3618	CCDS7844.1	11																																																																																			IGSF22	-	NULL	ENSG00000179057		0.716	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000387812.1	-	0	49	0	C	NM_153347		18727656	-1	tier1	-	no_errors	ENST00000513874	ensembl	human	known	74_37	silent	49.09	28	27	SNP	0.003	T	T	18727656	C	T	18727656	1	4	145	0	1	0	0	0	0	0	0	0	7627	912	32	3		3	IGSF22	11	18727656	IGR	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	4443183	18727656	116278860	139	36924											
COMMD9	29099	genome.wustl.edu	37	chr11	36297787	36297787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgaccaggcgtggcagaGagactgtggaaggaacagct	12	5	16	8	2	0	2	0	0	0	2	1	7	0	4	1	4	2	2	1	4	2	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:36297787G>T	ENST00000263401.5	-	5	372	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000533308.1_5'Flank|COMMD9_ENST00000452374.2_Missense_Mutation_p.S77Y|COMMD9_ENST00000532705.1_Silent_p.L107L	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	119										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				GCGTGGCAGAGAGACTGTGGA	0.557																																																	0													90	73	79					11																	36297787		2202	4298	6500	SO:0001583	missense	0			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.356C>A	11.37:g.36297787G>T	ENSP00000263401:p.Ser119Tyr		E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	pfam_HCaRG	p.S119Y	ENST00000263401.5	37	c.356	CCDS7900.1	11	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459439	0.84317	.	.	ENSG00000110442	ENST00000263401;ENST00000537683;ENST00000452374	T;T	0.10960	2.82;2.82	5.73	4.82	0.62117	.	0.048985	0.85682	D	0.000000	T	0.37019	0.0988	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35425	-0.9789	10	0.72032	D	0.01	-19.0372	13.7846	0.63102	0.0753:0.0:0.9247:0.0	.	77;119	Q9P000-2;Q9P000	.;COMD9_HUMAN	Y	119;119;77	ENSP00000263401:S119Y;ENSP00000392510:S77Y	ENSP00000263401:S119Y	S	-	2	0	COMMD9	36254363	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.331000	0.90022	1.417000	0.47077	0.563000	0.77884	TCT	COMMD9	-	pfam_HCaRG	ENSG00000110442		0.557	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD9	HGNC	protein_coding	OTTHUMT00000389196.1	-	0	26	0	G	NM_014186		36297787	-1	tier1	-	no_errors	ENST00000263401	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T	T	36297787	G	T	36297787	3	4	145	1	0	0	0	0	1	0	0	0	3730	942	33	3	248	3	COMMD9	11	36297787	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	17570131	36297787	98708729	140	36925											
NDUFS3	4722	genome.wustl.edu	37	chr11	47600657	47600657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gagtaacatggcggcggcggCggtagccaggctgtggtggc	6	6	20	9	4	0	0	0	0	0	0	0	1	0	0	1	8	2	3	1	8	2	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:47600657C>T	ENST00000263774.4	+	1	96	c.14C>T	c.(13-15)gCg>gTg	p.A5V	KBTBD4_ENST00000395288.2_5'Flank|NDUFS3_ENST00000534208.1_Missense_Mutation_p.A5V|NDUFS3_ENST00000529276.1_Missense_Mutation_p.A5V|KBTBD4_ENST00000525720.1_5'Flank|NDUFS3_ENST00000528192.1_Missense_Mutation_p.A5V|KBTBD4_ENST00000533290.1_5'Flank|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000534716.2_Missense_Mutation_p.A5V|KBTBD4_ENST00000430070.2_5'Flank|KBTBD4_ENST00000526005.1_5'Flank|RNU5E-10P_ENST00000363506.1_RNA	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	5				MAAAAVA -> MAAGRY (in Ref. 3). {ECO:0000305}.	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)	GCGGCGGCGGCGGTAGCCAGG	0.692																																					Pancreas(15;551 601 22438 23457 52512)												0													14	15	15					11																	47600657		2147	4214	6361	SO:0001583	missense	0			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.14C>T	11.37:g.47600657C>T	ENSP00000263774:p.Ala5Val		B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_30kDa_su,tigrfam_NADH_DH_suC	p.A5V	ENST00000263774.4	37	c.14	CCDS7941.1	11	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751818	0.49362	.	.	ENSG00000213619	ENST00000263774;ENST00000529276;ENST00000528192;ENST00000530295;ENST00000534208;ENST00000534716	T;T	0.77489	-1.1;1.42	5.47	4.56	0.56223	.	0.470662	0.23918	N	0.043262	T	0.69949	0.3168	L	0.58101	1.795	0.09310	N	0.999992	B;B	0.20550	0.012;0.046	B;B	0.10450	0.003;0.005	T	0.53704	-0.8401	10	0.09338	T	0.73	-33.586	11.8687	0.52509	0.0:0.9179:0.0:0.0821	.	5;5	B4DFM8;O75489	.;NDUS3_HUMAN	V	5	ENSP00000263774:A5V;ENSP00000432099:A5V	ENSP00000263774:A5V	A	+	2	0	NDUFS3	47557233	0.003000	0.15002	0.016000	0.15963	0.001000	0.01503	0.010000	0.13242	1.455000	0.47813	-0.119000	0.15052	GCG	NDUFS3	-	NULL	ENSG00000213619		0.692	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS3	HGNC	protein_coding	OTTHUMT00000391749.1	-	0	39	0	C	NM_004551		47600657	1	tier1	-	no_errors	ENST00000263774	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.150	T	T	47600657	C	T	47600657	3	4	145	1	0	0	0	0	1	0	0	0	10332	768	27	1	16	1	NDUFS3	11	47600657	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	11302870	47600657	87405859	141	36926											
CCDC88B	283234	genome.wustl.edu	37	chr11	64111516	64111516	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgttcttccagtgctGgaggaggctccccagactcc	6	9	11	15	0	1	1	0	0	1	1	4	4	4	3	5	3	1	3	5	3	0	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:64111516G>T	ENST00000356786.5	+	14	1547	c.1503G>T	c.(1501-1503)ctG>ctT	p.L501L	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	501						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						TTCCAGTGCTGGAGGAGGCTC	0.657																																																	0													36	37	37					11																	64111516		2200	4297	6497	SO:0001819	synonymous_variant	0			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.1503G>T	11.37:g.64111516G>T			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	pfam_Hook-related_fam	p.L501	ENST00000356786.5	37	c.1503	CCDS8072.2	11																																																																																			CCDC88B	-	NULL	ENSG00000168071		0.657	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	-	0	66	0	G	NM_032251		64111516	1	tier1	-	no_errors	ENST00000356786	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.000	T	T	64111516	G	T	64111516	2	4	145	1	0	0	0	0	0	0	0	1	2871	1335	47	3		3	CCDC88B	11	64111516	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	16510859	64111516	70895000	142	36927											
LTBP3	4054	genome.wustl.edu	37	chr11	65307271	65307271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagtcgtcgaaggtgaggGcaggcccggccagggggcca	8	3	19	11	3	0	1	0	1	0	0	2	2	0	1	3	6	1	2	3	6	1	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:65307271G>A	ENST00000301873.5	-	25	3735	c.3467C>T	c.(3466-3468)gCc>gTc	p.A1156V	LTBP3_ENST00000530785.1_Missense_Mutation_p.A159V|LTBP3_ENST00000532932.1_Missense_Mutation_p.A586V|LTBP3_ENST00000536982.1_Missense_Mutation_p.A735V|LTBP3_ENST00000322147.4_Missense_Mutation_p.A1109V|LTBP3_ENST00000529189.1_Missense_Mutation_p.A112V	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1156	TB 4.				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						GAAGGTGAGGGCAGGCCCGGC	0.761																																																	0													2	3	3					11																	65307271		1663	3347	5010	SO:0001583	missense	0			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.3467C>T	11.37:g.65307271G>A	ENSP00000301873:p.Ala1156Val		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A1156V	ENST00000301873.5	37	c.3467	CCDS44647.1	11	.	.	.	.	.	.	.	.	.	.	G	5.970	0.363006	0.11296	.	.	ENSG00000168056	ENST00000301874;ENST00000322147;ENST00000301873;ENST00000530785;ENST00000529189;ENST00000532932;ENST00000536982;ENST00000532661;ENST00000529371;ENST00000530866	T;T;D;T;D;T;D;D;T	0.93763	-1.37;-1.46;-2.58;-0.42;-2.58;-1.32;-3.28;-3.28;-1.35	4.93	1.33	0.21861	Matrix fibril-associated (3);TGF-beta binding (1);	0.847721	0.10620	N	0.653461	D	0.83367	0.5239	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B;B;B	0.32302	0.243;0.007;0.024;0.363;0.016;0.005;0.089	B;B;B;B;B;B;B	0.35182	0.197;0.006;0.014;0.183;0.009;0.009;0.098	T	0.72890	-0.4155	10	0.15952	T	0.53	.	3.9868	0.09519	0.2033:0.474:0.3227:0.0	.	1067;735;992;1156;1109;586;735	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2;B4DQL8	.;.;.;LTBP3_HUMAN;.;.;.	V	159;1109;1156;159;112;586;735;112;29;1067	ENSP00000326647:A1109V;ENSP00000301873:A1156V;ENSP00000434315:A159V;ENSP00000434406:A112V;ENSP00000435530:A586V;ENSP00000441912:A735V;ENSP00000436341:A112V;ENSP00000436032:A29V;ENSP00000435276:A1067V	ENSP00000301873:A1156V	A	-	2	0	LTBP3	65063847	0.228000	0.23718	0.011000	0.14972	0.001000	0.01503	0.715000	0.25822	0.432000	0.26286	-0.175000	0.13238	GCC	LTBP3	-	pfam_TB_dom,superfamily_TB_dom	ENSG00000168056		0.761	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1		0	9	0	G	NM_021070		65307271	-1			no_errors	ENST00000301873	ensembl	human	known	74_37	missense	50.00	5	5	SNP	0.001	A	A	65307271	G	A	65307271	3	1	145	1	0	0	0	0	1	0	0	0	9110	1203	42	3	460	3	LTBP3	11	65307271	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1195755	65307271	69699245	143	36928											
ANKRD13D	338692	genome.wustl.edu	37	chr11	67067035	67067035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacgtggagctggtgacacGcacacgcacggagcacctct	10	5	12	14	4	1	1	0	1	1	0	1	3	1	3	1	3	3	4	1	3	1	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:67067035G>A	ENST00000447274.2	+	8	1747	c.572G>A	c.(571-573)cGc>cAc	p.R191H	ANKRD13D_ENST00000515828.1_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R278H|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R191H|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R191H			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	191						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)			CTGGTGACACGCACACGCACG	0.647																																																	0													56	43	47					11																	67067035		2029	3854	5883	SO:0001583	missense	0			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.572G>A	11.37:g.67067035G>A	ENSP00000402616:p.Arg191His		D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.R278H	ENST00000447274.2	37	c.833		11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382305	0.82792	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.04	4.1	0.47936	.	0.072834	0.53938	D	0.000047	T	0.68265	0.2982	M	0.89414	3.03	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.953	T	0.71189	-0.4666	10	0.66056	D	0.02	-16.8134	7.21	0.25929	0.1194:0.1684:0.7122:0.0	.	278;191	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	H	191;278;191;191	ENSP00000402616:R191H;ENSP00000427130:R278H;ENSP00000310874:R191H;ENSP00000444404:R191H	ENSP00000310874:R191H	R	+	2	0	ANKRD13D	66823611	0.987000	0.35691	1.000000	0.80357	0.989000	0.77384	3.691000	0.54720	1.304000	0.44892	0.491000	0.48974	CGC	ANKRD13D	-	pfam_ANKRD13	ENSG00000172932		0.647	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2		0	39	0	G	NM_207354		67067035	1			no_errors	ENST00000511455	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	A	A	67067035	G	A	67067035	3	1	145	1	0	0	0	0	1	0	0	0	644	1087	38	1	863	1	ANKRD13D	11	67067035	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1759764	67067035	67939481	144	36929											
LRRC32	2615	genome.wustl.edu	37	chr11	76376953	76376953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttggtgttgtgcagccaGgcctagggtcagcagggcca	6	9	16	10	0	2	0	1	0	1	0	2	0	2	0	3	4	3	3	3	4	1	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:76376953G>T	ENST00000407242.2	-	2	288	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	LRRC32_ENST00000464145.1_5'UTR|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.L16M|LRRC32_ENST00000260061.5_Missense_Mutation_p.L16M	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	16					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						TGTGCAGCCAGGCCTAGGGTC	0.597																																																	0													175	150	159					11																	76376953		2200	4292	6492	SO:0001583	missense	0			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.46C>A	11.37:g.76376953G>T	ENSP00000384126:p.Leu16Met		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.L16M	ENST00000407242.2	37	c.46	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424591	0.43020	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	T;T;T;T	0.59906	1.05;1.05;1.05;0.23	3.85	3.85	0.44370	.	0.229124	0.29342	N	0.012434	T	0.67961	0.2949	L	0.47716	1.5	0.31817	N	0.626496	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.68443	-0.5407	10	0.30854	T	0.27	.	15.5702	0.76330	0.0:0.0:1.0:0.0	.	16;16	C9JYU3;Q14392	.;LRC32_HUMAN	M	16	ENSP00000260061:L16M;ENSP00000384126:L16M;ENSP00000385766:L16M;ENSP00000413331:L16M	ENSP00000260061:L16M	L	-	1	2	LRRC32	76054601	1.000000	0.71417	0.997000	0.53966	0.032000	0.12392	2.364000	0.44187	2.445000	0.82738	0.467000	0.42956	CTG	LRRC32	-	NULL	ENSG00000137507		0.597	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0	56	0	G	NM_005512		76376953	-1	tier1	-	no_errors	ENST00000260061	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.999	T	T	76376953	G	T	76376953	3	4	145	1	0	0	0	0	1	0	0	0	9022	991	35	3	1950	3	LRRC32	11	76376953	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	9309918	76376953	58629563	145	36930											
ODZ4	26011	genome.wustl.edu	37	chr11	78369591	78369591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccccatcaatggtgaagtGcaggttctctaggtagtggg	9	10	13	9	0	2	1	1	1	1	0	3	1	2	1	2	4	1	3	2	4	4	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:78369591G>T	ENST00000278550.7	-	34	8284	c.7822C>A	c.(7822-7824)Cac>Aac	p.H2608N		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2608					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)										ATGGTGAAGTGCAGGTTCTCT	0.562																																																	0													43	45	45					11																	78369591		2043	4196	6239	SO:0001583	missense	0			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.7822C>A	11.37:g.78369591G>T	ENSP00000278550:p.His2608Asn		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.H2608N	ENST00000278550.7	37	c.7822	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269381	0.80469	.	.	ENSG00000149256	ENST00000278550	D	0.90133	-2.62	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94945	0.8365	M	0.72894	2.215	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	D	0.93733	0.7043	9	.	.	.	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	2608	Q6N022	TEN4_HUMAN	N	2608	ENSP00000278550:H2608N	.	H	-	1	0	ODZ4	78047239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	CAC	TENM4	-	NULL	ENSG00000149256		0.562	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	60	0	G			78369591	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	59.26	11	16	SNP	1.000	T	T	78369591	G	T	78369591	3	4	145	1	0	0	0	0	1	0	0	0	10876	1319	46	3	491	3	ODZ4	11	78369591	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1992638	78369591	56636925	146	36931											
FAT3	120114	genome.wustl.edu	37	chr11	92495313	92495313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctagaaagcagtttacaGcaggcagttatgacatccta	13	11	8	9	0	1	2	0	1	1	1	2	2	2	2	1	1	3	5	1	1	5	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:92495313G>T	ENST00000298047.6	+	4	3978	c.3961G>T	c.(3961-3963)Gca>Tca	p.A1321S	FAT3_ENST00000409404.2_Missense_Mutation_p.A1321S|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.A1171S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1321	Cadherin 12. {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)				GCAGTTTACAGCAGGCAGTTA	0.428										TCGA Ovarian(4;0.039)																																							0													69	66	67					11																	92495313		1890	4124	6014	SO:0001583	missense	0			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.3961G>T	11.37:g.92495313G>T	ENSP00000298047:p.Ala1321Ser		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A1321S	ENST00000298047.6	37	c.3961		11	.	.	.	.	.	.	.	.	.	.	G	32	5.151384	0.94645	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52057	0.68;0.68;0.68	5.58	5.58	0.84498	.	.	.	.	.	T	0.63117	0.2484	L	0.43701	1.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57797	-0.7749	9	0.34782	T	0.22	.	19.5733	0.95430	0.0:0.0:1.0:0.0	.	1321	Q8TDW7-3	.	S	1321;1321;1171	ENSP00000298047:A1321S;ENSP00000387040:A1321S;ENSP00000432586:A1171S	ENSP00000298047:A1321S	A	+	1	0	FAT3	92134961	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.787000	0.99055	2.618000	0.88619	0.563000	0.77884	GCA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.428	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	32	0	G	NM_001008781		92495313	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	92495313	G	T	92495313	3	4	145	1	0	0	0	0	1	0	0	0	5713	971	34	3	3975	3	FAT3	11	92495313	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	14125722	92495313	42511203	147	36932											
SIK3	23387	genome.wustl.edu	37	chr11	116730026	116730026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcagctgcttggacaagggaCggtgcccatagctgagggtg	8	8	16	9	1	1	1	1	1	0	0	1	3	1	3	1	4	4	3	1	4	2	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:116730026C>T	ENST00000292055.4	-	19	2437	c.2402G>A	c.(2401-2403)cGt>cAt	p.R801H	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.R196H|SIK3_ENST00000542607.1_Missense_Mutation_p.R801H|SIK3_ENST00000446921.2_Missense_Mutation_p.R859H|SIK3_ENST00000434315.2_Missense_Mutation_p.R700H|SIK3_ENST00000375300.1_Missense_Mutation_p.R859H	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	801	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						GGACAAGGGACGGTGCCCATA	0.607																																																	0													108	79	88					11																	116730026		2201	4296	6497	SO:0001583	missense	0			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.2402G>A	11.37:g.116730026C>T	ENSP00000292055:p.Arg801His		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R859H	ENST00000292055.4	37	c.2576	CCDS8379.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.243575	0.95272	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	T;D;T;T;T	0.81499	-1.49;-1.5;0.56;-1.29;-0.96	5.43	5.43	0.79202	.	0.000000	0.37577	U	0.002022	D	0.85792	0.5779	L	0.34521	1.04	0.33927	D	0.641558	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;0.999	D	0.89613	0.3843	10	0.87932	D	0	.	19.2354	0.93856	0.0:1.0:0.0:0.0	.	801;801;700;801;196	Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.;.;.;SIK3_HUMAN;.	H	859;801;196;801;700	ENSP00000364449:R859H;ENSP00000292055:R801H;ENSP00000364437:R196H;ENSP00000438108:R801H;ENSP00000415873:R700H	ENSP00000292055:R801H	R	-	2	0	SIK3	116235236	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.786000	0.75094	2.527000	0.85204	0.561000	0.74099	CGT	SIK3	-	NULL	ENSG00000160584		0.607	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding			0	9	0	C	NM_025164		116730026	-1			no_errors	ENST00000375300	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	T	T	116730026	C	T	116730026	3	4	145	1	0	0	0	0	1	0	0	0	14364	536	19	1	1409	1	SIK3	11	116730026	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	24234713	116730026	18276490	148	36933											
C2CD2L	9854	genome.wustl.edu	37	chr11	118983046	118983046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgtcccacagggatctggGcccccagagccgggagctga	7	6	14	14	1	1	2	0	1	1	1	2	4	2	4	4	3	2	1	4	3	0	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:118983046G>T	ENST00000528586.1	+	4	342	c.272G>T	c.(271-273)gGc>gTc	p.G91V	C2CD2L_ENST00000336702.3_Missense_Mutation_p.G343V			O14523	C2C2L_HUMAN	C2CD2-like	343						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						AGGGATCTGGGCCCCCAGAGC	0.602																																																	0													37	39	38					11																	118983046		2199	4295	6494	SO:0001583	missense	0			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.272G>T	11.37:g.118983046G>T	ENSP00000433600:p.Gly91Val		Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	superfamily_C2_dom	p.G343V	ENST00000528586.1	37	c.1028		11	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953468	0.73902	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.50813	0.73;0.73	5.23	5.23	0.72850	C2 calcium/lipid-binding domain, CaLB (1);	0.268654	0.42548	D	0.000694	T	0.53562	0.1804	L	0.29908	0.895	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.57244	0.816;0.816	T	0.53781	-0.8390	10	0.52906	T	0.07	-9.0565	17.9555	0.89067	0.0:0.0:1.0:0.0	.	343;343	O14523;O14523-2	C2C2L_HUMAN;.	V	343;91	ENSP00000338885:G343V;ENSP00000433600:G91V	ENSP00000338885:G343V	G	+	2	0	C2CD2L	118488256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.254000	0.65457	2.731000	0.93534	0.591000	0.81541	GGC	C2CD2L	-	superfamily_C2_dom	ENSG00000172375		0.602	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000388199.2		0	120	0	G	NM_014807		118983046	1			no_errors	ENST00000336702	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.999	T	T	118983046	G	T	118983046	3	4	145	1	0	0	0	0	1	0	0	0	2160	1203	42	3	1058	3	C2CD2L	11	118983046	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	2253020	118983046	16023470	149	36934											
NLRX1	79671	genome.wustl.edu	37	chr11	119045798	119045798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgtgttcaccgtgcccGccatgcaggaatacctggct	6	10	10	15	3	1	0	1	0	0	0	2	1	1	1	5	2	3	3	5	2	2	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:119045798G>T	ENST00000409109.1	+	6	2073	c.1486G>T	c.(1486-1488)Gcc>Tcc	p.A496S	NLRX1_ENST00000409991.1_Missense_Mutation_p.A496S|NLRX1_ENST00000409265.4_Missense_Mutation_p.A496S|NLRX1_ENST00000525863.1_Missense_Mutation_p.A496S|NLRX1_ENST00000292199.2_Missense_Mutation_p.A496S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	496	Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CACCGTGCCCGCCATGCAGGA	0.607																																																	0													94	82	86					11																	119045798		2200	4295	6495	SO:0001583	missense	0			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1486G>T	11.37:g.119045798G>T	ENSP00000387334:p.Ala496Ser		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.A496S	ENST00000409109.1	37	c.1486	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308761	0.40895	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.67865	-0.19;-0.19;-0.29;-0.19;-0.29	5.76	4.82	0.62117	.	0.068570	0.64402	D	0.000012	T	0.59569	0.2203	L	0.34521	1.04	0.29525	N	0.8532	P;P	0.51537	0.946;0.928	P;B	0.51324	0.666;0.323	T	0.53816	-0.8385	10	0.09084	T	0.74	.	10.2031	0.43097	0.0705:0.0:0.792:0.1375	.	496;496	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	S	496	ENSP00000386851:A496S;ENSP00000292199:A496S;ENSP00000386858:A496S;ENSP00000387334:A496S;ENSP00000433442:A496S	ENSP00000292199:A496S	A	+	1	0	NLRX1	118551008	1.000000	0.71417	0.876000	0.34364	0.935000	0.57460	5.268000	0.65536	1.367000	0.46095	0.655000	0.94253	GCC	NLRX1	-	NULL	ENSG00000160703		0.607	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	-	0	77	0	G	NM_170722		119045798	1	tier1	-	no_errors	ENST00000292199	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.980	T	T	119045798	G	T	119045798	3	4	145	1	0	0	0	0	1	0	0	0	10524	1087	38	2	1504	2	NLRX1	11	119045798	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	62752	119045798	15960718	150	36935											
OR8B4	283162	genome.wustl.edu	37	chr11	124294459	124294459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaattgacaaagaaacaGaagaaaaatagctgagtcat	21	7	8	5	0	2	6	2	2	0	4	2	6	2	6	0	0	2	1	0	0	7	2	rs140207564		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:124294459G>T	ENST00000356130.3	-	1	330	c.309C>A	c.(307-309)ttC>ttA	p.F103L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	103						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)		CAAAGAAACAGAAGAAAAATA	0.423																																																	0													103	102	102					11																	124294459		2201	4299	6500	SO:0001583	missense	0			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.309C>A	11.37:g.124294459G>T	ENSP00000348449:p.Phe103Leu		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F103L	ENST00000356130.3	37	c.309	CCDS31710.1	11	.	.	.	.	.	.	.	.	.	.	g	13.52	2.260268	0.39995	.	.	ENSG00000198657	ENST00000356130	T	0.00309	8.16	4.62	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000033	T	0.00210	0.0006	L	0.49571	1.57	0.26359	N	0.977086	B	0.20368	0.044	B	0.21151	0.033	T	0.34700	-0.9818	10	0.66056	D	0.02	.	7.1371	0.25535	0.2906:0.0:0.7094:0.0	.	103	Q96RC9	OR8B4_HUMAN	L	103	ENSP00000348449:F103L	ENSP00000348449:F103L	F	-	3	2	OR8B4	123799669	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.122000	0.10627	1.305000	0.44909	0.655000	0.94253	TTC	OR8B4	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198657		0.423	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B4	HGNC	protein_coding	OTTHUMT00000387055.1	-	0	21	0	G	NM_001005196		124294459	-1	tier1	-	no_errors	ENST00000356130	ensembl	human	known	74_37	missense	18.75	12	3	SNP	0.623	T	T	124294459	G	T	124294459	3	4	145	1	0	0	0	0	1	0	0	0	11268	933	33	3	622	3	OR8B4	11	124294459	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	5248661	124294459	10712057	151	36936											
ADAMTS8	11095	genome.wustl.edu	37	chr11	130275784	130275784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggctctggcaagggcCggaagctctgcaggcgctcc	7	6	15	13	2	3	1	1	0	2	1	4	2	4	2	2	5	2	5	2	5	2	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr11:130275784C>T	ENST00000257359.6	-	9	3045	c.2339G>A	c.(2338-2340)cGg>cAg	p.R780Q		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	780	Spacer.				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)		TGGCAAGGGCCGGAAGCTCTG	0.577																																																	0													100	106	104					11																	130275784		1998	4157	6155	SO:0001583	missense	0			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.2339G>A	11.37:g.130275784C>T	ENSP00000257359:p.Arg780Gln		Q9NZS0	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS	p.R780Q	ENST00000257359.6	37	c.2339	CCDS41732.1	11	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111416	0.37242	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.49432	0.78	5.34	2.44	0.29823	ADAM-TS Spacer 1 (1);	0.359497	0.30547	N	0.009396	T	0.31513	0.0799	L	0.31526	0.94	0.22017	N	0.999413	B;B	0.27316	0.175;0.034	B;B	0.19391	0.015;0.025	T	0.18272	-1.0342	10	0.54805	T	0.06	.	7.9623	0.30079	0.0:0.601:0.0:0.399	.	780;261	Q9UP79;B3KVX9	ATS8_HUMAN;.	Q	178;780;809	ENSP00000257359:R780Q	ENSP00000257359:R780Q	R	-	2	0	ADAMTS8	129780994	0.000000	0.05858	0.999000	0.59377	0.984000	0.73092	-0.153000	0.10144	0.235000	0.21160	0.460000	0.39030	CGG	ADAMTS8	-	pfam_ADAM_spacer1	ENSG00000134917		0.577	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS8	HGNC	protein_coding	OTTHUMT00000385636.1	-	0	32	0	C	NM_007037		130275784	-1	tier1	-	no_errors	ENST00000257359	ensembl	human	known	74_37	missense	25.00	21	7	SNP	0.530	T	T	130275784	C	T	130275784	3	4	145	1	0	0	0	0	1	0	0	0	272	652	23	1	334	1	ADAMTS8	11	130275784	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	5981325	130275784	4730732	152	36937											
CACNA1C	775	genome.wustl.edu	37	chr12	2800177	2800177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagaggagatggagagcGcggccgacaacatcctcagc	12	4	13	12	3	1	3	1	0	0	3	2	6	2	3	3	3	3	0	3	3	2	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:2800177G>T	ENST00000347598.4	+	49	6373	c.6373G>T	c.(6373-6375)Gcg>Tcg	p.A2125S	CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2105S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2083S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2096S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A2094S|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A2077S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2077S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2096S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2148S|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2085S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2077S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A2077S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2077S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2112S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2102S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2148S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2112S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2077S|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2097S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2096S|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2085S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2118S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2160					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.A1612T(1)|p.A2190T(1)|p.A2118T(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)	GATGGAGAGCGCGGCCGACAA	0.647																																																	3	Substitution - Missense(3)	large_intestine(3)											12	15	14					12																	2800177		1983	4141	6124	SO:0001583	missense	0			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.6373G>T	12.37:g.2800177G>T	ENSP00000266376:p.Ala2125Ser		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.A2148S	ENST00000347598.4	37	c.6442	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832728	0.91036	.	.	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	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	4.58	4.58	0.56647	.	0.059993	0.64402	D	0.000005	T	0.78489	0.4291	M	0.83774	2.66	0.49798	D	0.999822	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;1.0;1.0;0.622;1.0;0.999;0.999;0.999;1.0;0.997;0.999;0.999;0.977;0.999;1.0;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.993;0.999;0.997;0.998;0.997;0.998;0.457;0.999;0.997;0.997;0.997;0.998;0.984;0.996;0.997;0.888;0.997;0.999;0.994;0.996;0.997;0.997;0.993	T	0.82422	-0.0465	10	0.87932	D	0	.	17.926	0.88983	0.0:0.0:1.0:0.0	.	768;2118;2074;2160;2112;2096;2077;2094;2105;2077;2097;2077;2108;2125;2077;2112;2148;2085;2083;2085;2066;2096;2096;2077;2077	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	2102;2077;2077;2105;2077;2096;2096;2085;2077;2125;2097;2077;2118;2094;2112;2083;2096;2077;2148;2112;2148;2085;1978	ENSP00000336982:A2102S;ENSP00000382563:A2077S;ENSP00000382552:A2077S;ENSP00000382547:A2105S;ENSP00000382506:A2077S;ENSP00000382530:A2096S;ENSP00000382546:A2096S;ENSP00000382500:A2085S;ENSP00000382549:A2077S;ENSP00000266376:A2125S;ENSP00000382515:A2097S;ENSP00000382510:A2077S;ENSP00000341092:A2118S;ENSP00000382537:A2094S;ENSP00000329877:A2112S;ENSP00000382557:A2083S;ENSP00000385724:A2096S;ENSP00000382512:A2077S;ENSP00000382542:A2148S;ENSP00000382526:A2112S;ENSP00000385896:A2148S;ENSP00000382504:A2085S	ENSP00000323129:A1978S	A	+	1	0	CACNA1C	2670438	1.000000	0.71417	0.971000	0.41717	0.982000	0.71751	9.482000	0.97935	2.545000	0.85829	0.655000	0.94253	GCG	CACNA1C	-	NULL	ENSG00000151067		0.647	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0	25	0	G	NM_000719		2800177	1			no_errors	ENST00000399634	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	2800177	G	T	2800177	3	4	145	1	0	0	0	0	1	0	0	0	2547	1087	38	2	7124	2	CACNA1C	12	2800177	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		2800177	131051718	153	36938											
GRIN2B	2904	genome.wustl.edu	37	chr12	13768094	13768094	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgctgcgtgacaccatGacactgatgcctgtctctat	8	12	8	13	1	1	3	0	3	1	0	2	3	1	3	3	0	3	1	3	0	1	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:13768094G>T	ENST00000609686.1	-	7	1817	c.1608C>A	c.(1606-1608)gtC>gtA	p.V536V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	536					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)	GTGACACCATGACACTGATGC	0.517																																																	0													194	150	165					12																	13768094		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1608C>A	12.37:g.13768094G>T			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V536	ENST00000609686.1	37	c.1608	CCDS8662.1	12																																																																																			GRIN2B	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000273079		0.517	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	-	0	56	0	G			13768094	-1	tier1	-	no_errors	ENST00000609686	ensembl	human	known	74_37	silent	11.43	31	4	SNP	1.000	T	T	13768094	G	T	13768094	2	4	145	1	0	0	0	0	0	0	0	1	6807	1277	45	3		3	GRIN2B	12	13768094	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	10967917	13768094	120083801	154	36939											
SLCO1C1	53919	genome.wustl.edu	37	chr12	20903702	20903702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtagaggatcatgcaGattatatgattcaaatgtct	14	13	10	4	0	3	3	2	1	1	2	3	5	3	5	0	2	1	2	0	2	5	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:20903702G>T	ENST00000266509.2	+	14	2260	c.1892G>T	c.(1891-1893)aGa>aTa	p.R631I	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.R631I|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R582I|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R631I|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.R513I	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	631					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)	GGATCATGCAGATTATATGAT	0.408																																																	0													133	123	126					12																	20903702		2203	4300	6503	SO:0001583	missense	0			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.1892G>T	12.37:g.20903702G>T	ENSP00000266509:p.Arg631Ile		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.R631I	ENST00000266509.2	37	c.1892	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929821	0.92389	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.92219	3.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.991;0.998	T	0.71530	-0.4565	10	0.19590	T	0.45	.	16.962	0.86274	0.0:0.0:1.0:0.0	.	513;582;631;631	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	I	631;582;631;631;513	ENSP00000444149:R631I;ENSP00000438665:R582I;ENSP00000266509:R631I;ENSP00000370964:R631I;ENSP00000444527:R513I	ENSP00000266509:R631I	R	+	2	0	SLCO1C1	20794969	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.173000	0.89680	2.761000	0.94854	0.655000	0.94253	AGA	SLCO1C1	-	pfam_OA_transporter,tigrfam_OA_transporter	ENSG00000139155		0.408	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1		0	46	0	G	NM_017435		20903702	1			no_errors	ENST00000381552	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T	T	20903702	G	T	20903702	3	4	145	1	0	0	0	0	1	0	0	0	14770	942	33	3	1942	3	SLCO1C1	12	20903702	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	7135608	20903702	112948193	155	36940											
KCNJ8	3764	genome.wustl.edu	37	chr12	21926469	21926469	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctttggggaggcggtctcGgatgcgcggcttgcgcaggt	3	9	20	9	5	1	0	0	0	1	0	2	2	1	2	0	8	2	3	0	8	0	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:21926469G>A	ENST00000240662.2	-	2	427	c.82C>T	c.(82-84)Cga>Tga	p.R28*		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	28					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	AGGCGGTCTCGGATGCGCGGC	0.597											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													76	78	77					12																	21926469		2203	4300	6503	SO:0001587	stop_gained	0			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.82C>T	12.37:g.21926469G>A	ENSP00000240662:p.Arg28*	752	O00657	Nonsense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	p.R28*	ENST00000240662.2	37	c.82	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.496026	0.96355	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	.	.	.	4.88	2.88	0.33553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	13.8725	0.63629	0.0:0.0:0.6331:0.3668	.	.	.	.	X	28	.	ENSP00000240662:R28X	R	-	1	2	KCNJ8	21817736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.178000	0.42519	1.268000	0.44264	0.591000	0.81541	CGA	KCNJ8	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	ENSG00000121361		0.597	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	-	0	38	0	G	NM_004982		21926469	-1	tier1	-	no_errors	ENST00000240662	ensembl	human	known	74_37	nonsense	63.64	20	35	SNP	1.000	A	A	21926469	G	A	21926469	4	1	145	1	0	0	0	0	0	1	0	0	8083	1124	39	1	1200	1	KCNJ8	12	21926469	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1022767	21926469	111925426	156	36941											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43777766	43777766	+	Nonsense_Mutation	SNP	A	A	T	1	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	ctctgctgaactccagagccAcaggtcacagagcactacaa	13	6	8	14	0	2	3	1	1	1	2	3	3	3	3	2	1	5	2	2	1	3	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:43777766A>T	ENST00000389420.3	-	30	4466	c.4467T>A	c.(4465-4467)tgT>tgA	p.C1489*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1489	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C1489C(2)|p.S1489S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCCAGAGCCACAGGTCACAG	0.413																																																	3	Substitution - coding silent(3)	prostate(3)											69	59	62					12																	43777766		2203	4300	6503	SO:0001587	stop_gained	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4467T>A	12.37:g.43777766A>T	ENSP00000374071:p.Cys1489*		A6NNC9|J3QT00	Nonsense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.C1489*	ENST00000389420.3	37	c.4467	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	A	42	9.257192	0.99117	.	.	ENSG00000173157	ENST00000389420	.	.	.	4.25	-0.865	0.10662	.	0.115603	0.38663	N	0.001605	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3226	0.49430	0.7348:0.0:0.2652:0.0	.	.	.	.	X	1489	.	ENSP00000374071:C1489X	C	-	3	2	ADAMTS20	42064033	1.000000	0.71417	0.986000	0.45419	0.947000	0.59692	0.895000	0.28363	-0.433000	0.07286	-1.139000	0.01908	TGT	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000173157		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1		0	38	0	A	NM_025003		43777766	-1			no_errors	ENST00000389420	ensembl	human	known	74_37	nonsense	12.50	14	2	SNP	0.999	T	T	43777766	A	T	43777766	4	4	145	1	0	0	0	0	0	1	0	0	266	157	6	5	1304	5	ADAMTS20	12	43777766	Nonsense_Mutation	SNP	A	TCGA-R6-A6XQ-01B-11D-A33E-09	21851297	43777766	90074129	157	36942											
LMBR1L	55716	genome.wustl.edu	37	chr12	49500756	49500756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagtacctgtggtgaactCagcaggcttcttgaagcggg	10	9	13	9	1	2	2	1	2	1	0	2	2	2	2	1	3	4	3	1	3	4	3	rs370079049		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:49500756C>T	ENST00000267102.8	-	2	487	c.145G>A	c.(145-147)Gag>Aag	p.E49K	LMBR1L_ENST00000547382.1_Missense_Mutation_p.E49K|LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000395141.4_5'Flank	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	49	LCN1-binding.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTGGTGAACTCAGCAGGCTTC	0.517																																																	0								C	LYS/GLU	0,4220		0,0,2110	130	148	142		145	5.2	1	12		142	1,8465		0,1,4232	no	missense	LMBR1L	NM_018113.2	56	0,1,6342	TT,TC,CC		0.0118,0.0,0.0079	benign	49/490	49500756	1,12685	2110	4233	6343	SO:0001583	missense	0			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"limb region 1 homolog (mouse)-like"			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.145G>A	12.37:g.49500756C>T	ENSP00000267102:p.Glu49Lys		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt	p.E49K	ENST00000267102.8	37	c.145	CCDS8780.2	12	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768340	0.90020	0.0	1.18E-4	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000547675;ENST00000550137;ENST00000551854;ENST00000551782	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.25	5.25	0.73442	LMBR1-like membrane protein (1);	0.103535	0.64402	D	0.000004	T	0.32194	0.0821	L	0.46157	1.445	0.80722	D	1	B;B	0.30542	0.241;0.284	B;B	0.30943	0.051;0.122	T	0.12451	-1.0547	10	0.66056	D	0.02	.	17.7869	0.88540	0.0:1.0:0.0:0.0	.	49;49	Q6UX01-3;Q6UX01	.;LMBRL_HUMAN	K	49;49;49;49;54;49	ENSP00000267102:E49K;ENSP00000447329:E49K;ENSP00000447240:E49K;ENSP00000446641:E54K;ENSP00000449633:E49K	ENSP00000267102:E49K	E	-	1	0	LMBR1L	47787023	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.194000	0.77789	2.744000	0.94065	0.563000	0.77884	GAG	LMBR1L	-	pfam_LMBR1-like_membr_prot	ENSG00000139636		0.517	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBR1L	HGNC	protein_coding	OTTHUMT00000318696.1	-	0	115	0	C	NM_018113		49500756	-1	tier1	-	no_errors	ENST00000267102	ensembl	human	known	74_37	missense	12.62	90	13	SNP	1.000	T	T	49500756	C	T	49500756	3	4	145	1	0	0	0	0	1	0	0	0	8871	835	29	3	1388	3	LMBR1L	12	49500756	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	5722990	49500756	84351139	158	36943											
TSFM	10102	genome.wustl.edu	37	chr12	58180908	58180908	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccttggaaccatgatgcattGtcagaccctaaaggatcaac	13	9	8	11	0	2	2	2	1	0	1	2	4	2	4	3	2	3	1	3	2	4	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:58180908G>T	ENST00000550559.1	+	4	461	c.446G>T	c.(445-447)tGt>tTt	p.C149F	TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000540550.1_Missense_Mutation_p.C149F|TSFM_ENST00000454289.3_Missense_Mutation_p.C149F|TSFM_ENST00000543727.1_Missense_Mutation_p.C149F|TSFM_ENST00000548851.1_Missense_Mutation_p.C149F|TSFM_ENST00000323833.8_Missense_Mutation_p.C149F|TSFM_ENST00000350762.5_Missense_Mutation_p.C109F					Ts translation elongation factor, mitochondrial											endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ATGATGCATTGTCAGACCCTA	0.408																																																	0													90	72	78					12																	58180908		2199	4300	6499	SO:0001583	missense	0			L37936	CCDS8958.2, CCDS53809.1, CCDS53810.1, CCDS53811.1	12q14.1	2006-06-10			ENSG00000123297	ENSG00000123297			12367	protein-coding gene	gene with protein product		604723				7615523	Standard	NM_005726		Approved	EF-Tsmt, EF-TS	uc001sqh.3	P43897	OTTHUMG00000153042	ENST00000550559.1:c.446G>T	12.37:g.58180908G>T	ENSP00000448575:p.Cys149Phe			Missense_Mutation	SNP	pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/Ts_N,superfamily_Transl_elong_EFTs/EF1B_dimer,superfamily_UBA-like	p.C149F	ENST00000550559.1	37	c.446		12	.	.	.	.	.	.	.	.	.	.	G	1.747	-0.490231	0.04322	.	.	ENSG00000123297	ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000350762;ENST00000550559;ENST00000548851;ENST00000434359;ENST00000457189	.	.	.	5.42	5.42	0.78866	Translation elongation factor EFTs/EF1B, dimerisation (2);	0.256618	0.44097	D	0.000494	T	0.50922	0.1644	L	0.50333	1.59	0.36140	D	0.846742	P;P;B;P	0.41265	0.744;0.47;0.347;0.465	P;B;B;B	0.45119	0.47;0.055;0.092;0.077	T	0.58261	-0.7667	8	.	.	.	.	10.5891	0.45300	0.089:0.0:0.911:0.0	.	149;109;149;149	B4E391;F8W6R3;P43897;P43897-2	.;.;EFTS_HUMAN;.	F	149;149;149;149;109;149;149;99;99	.	.	C	+	2	0	TSFM	56467175	1.000000	0.71417	0.990000	0.47175	0.081000	0.17604	3.149000	0.50655	2.686000	0.91538	0.655000	0.94253	TGT	TSFM	-	pfam_Transl_elong_EFTs/EF1B_dimer,superfamily_Transl_elong_EFTs/EF1B_dimer	ENSG00000123297		0.408	TSFM-008	PUTATIVE	basic|exp_conf	protein_coding	TSFM	HGNC	protein_coding	OTTHUMT00000409343.1	-	0	77	0	G	NM_005726		58180908	1	tier1	-	no_errors	ENST00000323833	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	58180908	G	T	58180908	3	4	145	1	0	0	0	0	1	0	0	0	16663	1377	48	3	460	3	TSFM	12	58180908	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	8680152	58180908	75670987	159	36944											
TBC1D15	64786	genome.wustl.edu	37	chr12	72287037	72287037	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aagaacacttcttgtgaattGtcagaataagagtctttcac	14	13	7	7	0	4	4	2	1	2	3	4	4	4	4	0	0	1	0	0	0	5	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:72287037G>T	ENST00000550746.1	+	6	654	c.590G>T	c.(589-591)tGt>tTt	p.C197F	TBC1D15_ENST00000485960.2_Missense_Mutation_p.C197F|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.C205F	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	197					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						CTTGTGAATTGTCAGAATAAG	0.303																																																	0													77	77	77					12																	72287037		2202	4291	6493	SO:0001583	missense	0			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.590G>T	12.37:g.72287037G>T	ENSP00000448182:p.Cys197Phe		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.C197F	ENST00000550746.1	37	c.590	CCDS31858.1	12	.	.	.	.	.	.	.	.	.	.	G	9.907	1.208389	0.22205	.	.	ENSG00000121749	ENST00000482439;ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.5	4.55	0.56014	Domain of unknown function DUF3548 (1);	0.314708	0.37955	N	0.001871	T	0.16599	0.0399	N	0.08118	0	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.12156	0.007;0.004;0.007	T	0.04607	-1.0939	10	0.49607	T	0.09	-5.4804	11.075	0.48025	0.0:0.1195:0.6494:0.2311	.	205;197;197	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	F	98;197;98;205;197	ENSP00000449643:C98F;ENSP00000448182:C197F;ENSP00000418091:C98F;ENSP00000318262:C205F;ENSP00000420678:C197F	ENSP00000318262:C205F	C	+	2	0	TBC1D15	70573304	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	0.915000	0.28638	2.579000	0.87056	0.591000	0.81541	TGT	TBC1D15	-	pfam_DUF3548	ENSG00000121749		0.303	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	TBC1D15	HGNC	protein_coding	OTTHUMT00000351266.2	-	0	12	0	G	NM_022771		72287037	1	tier1	-	no_errors	ENST00000550746	ensembl	human	known	74_37	missense	44.44	5	4	SNP	1.000	T	T	72287037	G	T	72287037	3	4	145	1	0	0	0	0	1	0	0	0	15651	1377	48	3	736	3	TBC1D15	12	72287037	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	14106129	72287037	61564858	160	36945											
PPP1R12A	4659	genome.wustl.edu	37	chr12	80211231	80211231	+	Silent	SNP	A	A	G	1	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	gacacagtaggtgttgtaacAgctacaggagctgcttgtgt	10	11	13	7	0	0	0	0	0	0	0	0	2	0	1	0	2	5	6	0	2	3	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:80211231A>G	ENST00000450142.2	-	9	1448	c.1182T>C	c.(1180-1182)gcT>gcC	p.A394A	PPP1R12A_ENST00000261207.5_Silent_p.A394A|PPP1R12A_ENST00000437004.2_Silent_p.A394A|PPP1R12A_ENST00000550107.1_Silent_p.A394A|PPP1R12A_ENST00000546369.1_Silent_p.A307A	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	394					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GTGTTGTAACAGCTACAGGAG	0.363																																																	0													116	114	114					12																	80211231		1864	4110	5974	SO:0001819	synonymous_variant	0			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1182T>C	12.37:g.80211231A>G			B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Silent	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A394	ENST00000450142.2	37	c.1182	CCDS44947.1	12																																																																																			PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk	ENSG00000058272		0.363	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	-	0	26	0	A	NM_002480		80211231	-1	tier1	-	no_errors	ENST00000261207	ensembl	human	known	74_37	silent	16.67	20	4	SNP	1.000	G	G	80211231	A	G	80211231	2	3	145	1	0	0	0	0	0	0	0	1	12396	175	7	4		4	PPP1R12A	12	80211231	Silent	SNP	A	TCGA-R6-A6XQ-01B-11D-A33E-09	7924194	80211231	53640664	161	36946											
NR2C1	7181	genome.wustl.edu	37	chr12	95416047	95416047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tgagagttataatctgcaggCtccattttcaaaatatgtgg	12	14	9	6	0	2	1	1	1	1	1	3	2	3	1	1	2	1	3	1	2	5	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:95416047C>A	ENST00000333003.5	-	14	2100	c.1770G>T	c.(1768-1770)gaG>gaT	p.E590D		NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	590	Required for interaction with NRIP1. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AATCTGCAGGCTCCATTTTCA	0.368																																																	0													128	133	131					12																	95416047		2203	4300	6503	SO:0001583	missense	0			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1770G>T	12.37:g.95416047C>A	ENSP00000333275:p.Glu590Asp		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.E590D	ENST00000333003.5	37	c.1770	CCDS9051.1	12	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697024	0.48202	.	.	ENSG00000120798	ENST00000333003	T	0.52057	0.68	5.89	0.787	0.18596	Nuclear hormone receptor, ligand-binding (1);	0.096846	0.64402	D	0.000001	T	0.56156	0.1966	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.46470	-0.9189	10	0.29301	T	0.29	.	10.8152	0.46571	0.0:0.5798:0.0:0.4202	.	590	P13056	NR2C1_HUMAN	D	590	ENSP00000333275:E590D	ENSP00000333275:E590D	E	-	3	2	NR2C1	93940178	0.950000	0.32346	0.996000	0.52242	0.738000	0.42128	0.142000	0.16096	-0.122000	0.11766	-0.142000	0.14014	GAG	NR2C1	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000120798		0.368	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2C1	HGNC	protein_coding	OTTHUMT00000407565.2		0	44	0	C	NM_003297		95416047	-1			no_errors	ENST00000333003	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.996	A	A	95416047	C	A	95416047	3	1	145	1	0	0	0	0	1	0	0	0	10661	796	28	3	45	3	NR2C1	12	95416047	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	15204816	95416047	38435848	162	36947											
ANKS1B	56899	genome.wustl.edu	37	chr12	99837501	99837501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggcagtatcaggggatgGaggtgaacaatcaggtgttg	11	8	18	4	0	2	1	2	1	0	0	2	4	2	3	0	6	1	3	0	6	3	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:99837501G>T	ENST00000547776.2	-	11	1524	c.1525C>A	c.(1525-1527)Cca>Aca	p.P509T	ANKS1B_ENST00000329257.7_Missense_Mutation_p.P509T|ANKS1B_ENST00000547010.1_Missense_Mutation_p.P89T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	509						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)		TCAGGGGATGGAGGTGAACAA	0.418																																																	0													188	184	185					12																	99837501		1906	4120	6026	SO:0001583	missense	0			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.1525C>A	12.37:g.99837501G>T	ENSP00000449629:p.Pro509Thr		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.P509T	ENST00000547776.2	37	c.1525	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714961	0.89112	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.61040	0.96;0.14;0.96;0.69	6.04	6.04	0.98038	.	0.064498	0.64402	D	0.000008	T	0.69726	0.3143	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.64655	-0.6356	9	.	.	.	-9.4069	18.7754	0.91910	0.0:0.0:1.0:0.0	.	475;89;509	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	T	509;89;509;88;475	ENSP00000449629:P509T;ENSP00000448512:P89T;ENSP00000331381:P509T;ENSP00000449894:P475T	.	P	-	1	0	ANKS1B	98361632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.328000	0.90014	2.873000	0.98535	0.563000	0.77884	CCA	ANKS1B	-	NULL	ENSG00000185046		0.418	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	-	0	28	0	G	NM_020140		99837501	-1	tier1	-	no_errors	ENST00000329257	ensembl	human	known	74_37	missense	28.57	10	4	SNP	1.000	T	T	99837501	G	T	99837501	3	4	145	1	0	0	0	0	1	0	0	0	689	1174	41	3	2573	3	ANKS1B	12	99837501	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	4421454	99837501	34014394	163	36948											
UTP20	27340	genome.wustl.edu	37	chr12	101706008	101706008	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaattcccagaaagagtaGagccacggtccagggagctt	13	6	11	11	1	0	3	0	0	0	3	2	4	2	4	4	2	2	2	4	2	3	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:101706008G>T	ENST00000261637.4	+	21	2680	c.2506G>T	c.(2506-2508)Gag>Tag	p.E836*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	836					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						AGAAAGAGTAGAGCCACGGTC	0.458																																																	0													109	113	112					12																	101706008		2203	4300	6503	SO:0001587	stop_gained	0			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.2506G>T	12.37:g.101706008G>T	ENSP00000261637:p.Glu836*		Q9H3H4	Nonsense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.E836*	ENST00000261637.4	37	c.2506	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.517313	0.99193	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-22.3739	19.6584	0.95853	0.0:0.0:1.0:0.0	.	.	.	.	X	836	.	ENSP00000261637:E836X	E	+	1	0	UTP20	100230139	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	8.925000	0.92832	2.646000	0.89796	0.655000	0.94253	GAG	UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.458	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	-	0	51	0	G	NM_014503		101706008	1	tier1	-	no_errors	ENST00000261637	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	1.000	T	T	101706008	G	T	101706008	4	4	145	1	0	0	0	0	0	1	0	0	17148	943	33	3	2588	3	UTP20	12	101706008	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1868507	101706008	32145887	164	36949											
STAB2	55576	genome.wustl.edu	37	chr12	104152935	104152935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgggcgggacatcgagCaccacctcgccaatgtcagc	8	7	12	14	3	2	0	1	0	1	0	4	2	2	1	3	2	2	1	3	2	1	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:104152935C>T	ENST00000388887.2	+	65	7336	c.7132C>T	c.(7132-7134)Cac>Tac	p.H2378Y	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGACATCGAGCACCACCTCGC	0.488																																																	0													157	137	144					12																	104152935		2203	4300	6503	SO:0001583	missense	0			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.7132C>T	12.37:g.104152935C>T	ENSP00000373539:p.His2378Tyr			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.H2378Y	ENST00000388887.2	37	c.7132	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	C	0.320	-0.962319	0.02249	.	.	ENSG00000136011	ENST00000388887	D	0.87412	-2.25	4.77	2.91	0.33838	FAS1 domain (4);	0.219749	0.39909	N	0.001238	T	0.70902	0.3277	N	0.11000	0.08	0.35712	D	0.816475	B	0.02656	0.0	B	0.06405	0.002	T	0.66372	-0.5940	10	0.35671	T	0.21	.	5.6866	0.17807	0.0:0.637:0.0:0.363	.	2378	Q8WWQ8	STAB2_HUMAN	Y	2378	ENSP00000373539:H2378Y	ENSP00000373539:H2378Y	H	+	1	0	STAB2	102677065	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	1.305000	0.33493	1.124000	0.41980	0.655000	0.94253	CAC	STAB2	-	superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000136011		0.488	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0	55	0	C			104152935	1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	104152935	C	T	104152935	3	4	145	1	0	0	0	0	1	0	0	0	15285	710	25	3	7390	3	STAB2	12	104152935	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	2446927	104152935	29698960	165	36950											
CUX2	23316	genome.wustl.edu	37	chr12	111736347	111736347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ctcatctttgtgtctcagggCagatgaagtcggcctgatca	8	12	11	10	1	4	3	3	2	2	1	6	3	4	3	1	2	0	1	1	2	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:111736347C>A	ENST00000261726.6	+	9	861	c.707C>A	c.(706-708)gCa>gAa	p.A236E		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	236					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						TGTCTCAGGGCAGATGAAGTC	0.662																																																	0													22	23	23					12																	111736347		1916	4124	6040	SO:0001583	missense	0			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.707C>A	12.37:g.111736347C>A	ENSP00000261726:p.Ala236Glu		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.A236E	ENST00000261726.6	37	c.707	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431276	0.83776	.	.	ENSG00000111249	ENST00000261726	T	0.49720	0.77	4.32	4.32	0.51571	.	0.227062	0.45361	D	0.000364	T	0.51924	0.1703	M	0.62723	1.935	0.37643	D	0.922136	P	0.50943	0.94	P	0.47915	0.561	T	0.58075	-0.7700	10	0.28530	T	0.3	-12.2396	15.7529	0.78001	0.0:1.0:0.0:0.0	.	236	O14529	CUX2_HUMAN	E	236	ENSP00000261726:A236E	ENSP00000261726:A236E	A	+	2	0	CUX2	110220730	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.280000	0.58959	2.131000	0.65755	0.561000	0.74099	GCA	CUX2	-	NULL	ENSG00000111249		0.662	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1		0	133	0	C	NM_015267		111736347	1			no_errors	ENST00000261726	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	111736347	C	A	111736347	3	1	145	1	0	0	0	0	1	0	0	0	4074	710	25	3	741	3	CUX2	12	111736347	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	7583412	111736347	22115548	166	36951											
PEBP1	5037	genome.wustl.edu	37	chr12	118582594	118582594	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaaactgtacgagcagCtgtctgggaagtagggggtt	9	9	15	8	1	1	0	0	0	1	0	1	2	1	1	1	3	5	5	1	3	4	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:118582594C>T	ENST00000261313.2	+	4	902	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	184						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)					GTACGAGCAGCTGTCTGGGAA	0.557																																					NSCLC(44;94 1357 12187 49467)												0													69	63	65					12																	118582594		2203	4300	6503	SO:0001819	synonymous_variant	0			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.550C>T	12.37:g.118582594C>T			B2R4S1	Silent	SNP	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP	p.L184	ENST00000261313.2	37	c.550	CCDS9187.1	12																																																																																			PEBP1	-	superfamily_PtdEtn-bd_prot_PEBP	ENSG00000089220		0.557	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEBP1	HGNC	protein_coding	OTTHUMT00000401405.1	-	0	56	0	C	NM_002567		118582594	1	tier1	-	no_errors	ENST00000261313	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T	T	118582594	C	T	118582594	2	4	145	1	0	0	0	0	0	0	0	1	11752	796	28	3		3	PEBP1	12	118582594	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	6846247	118582594	15269301	167	36952											
KNTC1	9735	genome.wustl.edu	37	chr12	123099634	123099637	+	Splice_Site	DEL	GTAA	GTAA	-																															agcttctgggcttcaatatgGtaagtaagactcaatgccct																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	GTAA	GTAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:123099634_123099637delGTAA	ENST00000333479.7	+	56	6150		c.e56+1		KNTC1_ENST00000436959.3_Splice_Site|KNTC1_ENST00000450485.2_Splice_Site|KNTC1_ENST00000537348.1_Splice_Site	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1						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)		CTTCAATATGGTAAGTAAGACTCA	0.392																																																	0																																										SO:0001630	splice_region_variant	0				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.5973+1GTAA>-	12.37:g.123099638_123099641delGTAA			A7E2C4|B3KSG2	Splice_Site	DEL	-	e55+1	ENST00000333479.7	37	c.5973+1_5973+1	CCDS45002.1	12																																																																																			KNTC1	-	-	ENSG00000184445		0.392	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2		0	50	0	GTAA		Intron	123099637	1	tier1		no_errors	ENST00000333479	ensembl	human	known	74_37	splice_site_del	22.50	31	9	DEL	1.000:1.000:0.996:1.000	-	-	123099637	GTAA	-	123099634	8	5	145	1	0	1	0	1	0	0	1	0	8455	1275	44	0	6192	0	KNTC1	12	123099634	Splice_Site	DEL	GTAA	TCGA-R6-A6XQ-01B-11D-A33E-09	4517040	123099634	10752261	168	36953											
NCOR2	9612	genome.wustl.edu	37	chr12	124820115	124820115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gccccttgtcgtgggtcagaCtgggtgagctcacagggctg	5	9	16	11	1	2	2	2	1	0	1	3	2	2	2	2	3	1	2	2	3	0	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:124820115C>A	ENST00000405201.1	-	39	6179	c.6179G>T	c.(6178-6180)aGt>aTt	p.S2060I	NCOR2_ENST00000356219.3_Missense_Mutation_p.S2067I|NCOR2_ENST00000397355.1_Missense_Mutation_p.S2051I|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1621I|NCOR2_ENST00000404621.1_Missense_Mutation_p.S2050I|NCOR2_ENST00000429285.2_Missense_Mutation_p.S2050I			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2071					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)		GTGGGTCAGACTGGGTGAGCT	0.687																																																	0													29	38	35					12																	124820115		1924	4123	6047	SO:0001583	missense	0			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.6179G>T	12.37:g.124820115C>A	ENSP00000384018:p.Ser2060Ile		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S2067I	ENST00000405201.1	37	c.6200	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884761	0.33255	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.18657	2.2;2.46;2.2;2.46;2.2;2.46	3.56	3.56	0.40772	.	0.416253	0.27778	N	0.017895	T	0.32194	0.0821	L	0.38531	1.155	0.35517	D	0.801155	D;D;D	0.71674	0.996;0.998;0.997	P;P;P	0.59703	0.731;0.862;0.791	T	0.47222	-0.9134	10	0.56958	D	0.05	-17.5848	16.0192	0.80468	0.0:1.0:0.0:0.0	.	2051;2060;2071	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	I	2060;2050;2067;2051;2059;1621;152;2050	ENSP00000384018:S2060I;ENSP00000384202:S2050I;ENSP00000348551:S2067I;ENSP00000380513:S2051I;ENSP00000385618:S1621I;ENSP00000400281:S2050I	ENSP00000348551:S2067I	S	-	2	0	NCOR2	123386068	1.000000	0.71417	0.997000	0.53966	0.130000	0.20726	3.597000	0.54031	1.927000	0.55829	0.505000	0.49811	AGT	NCOR2	-	NULL	ENSG00000196498		0.687	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0	102	0	C	NM_006312		124820115	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	59.57	57	84	SNP	1.000	A	A	124820115	C	A	124820115	3	1	145	1	0	0	0	0	1	0	0	0	10275	565	20	3	1401	3	NCOR2	12	124820115	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	1720481	124820115	9031780	169	36954											
MMP17	4326	genome.wustl.edu	37	chr12	132325284	132325284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggccgaccataacgacGgctaccccttcgacggcccc	9	4	9	19	5	0	0	0	0	0	0	1	3	0	0	7	3	2	1	7	3	3	3	rs370404573		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:132325284G>A	ENST00000360564.1	+	4	691	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	MMP17_ENST00000535291.1_Missense_Mutation_p.G113S|MMP17_ENST00000535182.1_3'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	197					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)	CCATAACGACGGCTACCCCTT	0.677																																																	0								G	SER/GLY	0,4406		0,0,2203	69	60	63		589	0.1	0.6	12		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	MMP17	NM_016155.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	197/604	132325284	1,13005	2203	4300	6503	SO:0001583	missense	0			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.589G>A	12.37:g.132325284G>A	ENSP00000353767:p.Gly197Ser		Q14850	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.G197S	ENST00000360564.1	37	c.589	CCDS31927.1	12	.	.	.	.	.	.	.	.	.	.	G	5.536	0.283894	0.10458	0.0	1.16E-4	ENSG00000198598	ENST00000360564;ENST00000545671;ENST00000545790;ENST00000535291;ENST00000534865	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	4.39	0.117	0.14652	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.770342	0.11692	N	0.538773	T	0.22589	0.0545	L	0.41824	1.3	0.80722	D	1	D	0.54397	0.966	P	0.50231	0.635	T	0.19451	-1.0305	10	0.02654	T	1	.	16.7367	0.85448	0.0:0.3978:0.6022:0.0	.	197	Q9ULZ9	MMP17_HUMAN	S	197;93;113;113;38	ENSP00000353767:G197S;ENSP00000444603:G93S;ENSP00000441710:G113S;ENSP00000441106:G113S;ENSP00000442104:G38S	ENSP00000353767:G197S	G	+	1	0	MMP17	130891237	0.994000	0.37717	0.562000	0.28370	0.015000	0.08874	2.404000	0.44539	-0.159000	0.11021	0.313000	0.20887	GGC	MMP17	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	ENSG00000198598		0.677	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP17	HGNC	protein_coding	OTTHUMT00000397757.1	-	0	117	0	G	NM_016155		132325284	1	tier1	-	no_errors	ENST00000360564	ensembl	human	known	74_37	missense	65.45	57	108	SNP	1.000	A	A	132325284	G	A	132325284	3	1	145	1	0	0	0	0	1	0	0	0	9694	1116	39	1	603	1	MMP17	12	132325284	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	7505169	132325284	1526611	170	36955											
CHFR	55743	genome.wustl.edu	37	chr12	133434058	133434058	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttacagatccgctccacGggacagcggcaggtaggaca	10	8	12	11	3	0	1	0	0	0	1	2	3	2	3	2	4	2	3	2	4	2	4	rs115029653	byFrequency	TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr12:133434058G>T	ENST00000432561.2	-	9	1108	c.1035C>A	c.(1033-1035)ccC>ccA	p.P345P	CHFR_ENST00000315585.7_Silent_p.P304P|CHFR_ENST00000537522.1_5'Flank|CHFR_ENST00000443047.2_Silent_p.P253P|CHFR_ENST00000450056.2_Silent_p.P333P|CHFR_ENST00000266880.7_Silent_p.P345P|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	345					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)		TCCGCTCCACGGGACAGCGGC	0.592																																																	0													181	141	155					12																	133434058		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1035C>A	12.37:g.133434058G>T			A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING	p.P345	ENST00000432561.2	37	c.1035	CCDS53849.1	12																																																																																			CHFR	-	NULL	ENSG00000072609		0.592	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CHFR	HGNC	protein_coding	OTTHUMT00000397130.2	-	0	67	0	G			133434058	-1	tier1	-	no_errors	ENST00000266880	ensembl	human	known	74_37	silent	6.02	78	5	SNP	0.002	T	T	133434058	G	T	133434058	2	4	145	1	0	0	0	0	0	0	0	1	3344	1103	39	2		2	CHFR	12	133434058	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1108774	133434058	417837	171	36956											
SLITRK6	84189	genome.wustl.edu	37	chr13	86369531	86369531	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgtgaataatatttccCgctagaatgagctttctagg	13	13	8	7	1	1	3	0	2	1	1	2	3	2	3	1	1	2	2	1	1	7	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr13:86369531C>A	ENST00000400286.2	-	2	1711	c.1113G>T	c.(1111-1113)gcG>gcT	p.A371A		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	371					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TAATATTTCCCGCTAGAATGA	0.388																																																	0													78	72	74					13																	86369531		1830	4086	5916	SO:0001819	synonymous_variant	0			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1113G>T	13.37:g.86369531C>A			A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A371	ENST00000400286.2	37	c.1113	CCDS41903.1	13																																																																																			SLITRK6	-	NULL	ENSG00000184564		0.388	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2		0	32	0	C	NM_032229		86369531	-1			no_errors	ENST00000400286	ensembl	human	known	74_37	silent	28.57	5	2	SNP	0.294	A	A	86369531	C	A	86369531	2	1	145	1	0	0	0	0	0	0	0	1	14792	639	23	2		2	SLITRK6	13	86369531	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09		86369531	28800347	172	36957											
OR4K5	79317	genome.wustl.edu	37	chr14	20389688	20389688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaccattacctgaggcCaaggagaatttctgaaatgt	13	11	10	7	0	1	4	0	3	1	1	1	5	1	4	3	2	2	0	3	2	5	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr14:20389688C>A	ENST00000315915.4	+	1	948	c.923C>A	c.(922-924)cCa>cAa	p.P308Q		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P308Q(1)		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)		TACCTGAGGCCAAGGAGAATT	0.373																																																	1	Substitution - Missense(1)	lung(1)											89	101	97					14																	20389688		2203	4299	6502	SO:0001583	missense	0			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.923C>A	14.37:g.20389688C>A	ENSP00000319511:p.Pro308Gln		Q6IFA7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P308Q	ENST00000315915.4	37	c.923	CCDS32024.1	14	.	.	.	.	.	.	.	.	.	.	.	0.208	-1.039063	0.02013	.	.	ENSG00000176281	ENST00000315915	T	0.37235	1.21	3.99	3.09	0.35607	.	0.632412	0.13767	N	0.364127	T	0.23688	0.0573	L	0.34521	1.04	0.09310	N	1	B	0.33212	0.402	B	0.33392	0.163	T	0.13710	-1.0499	10	0.29301	T	0.29	.	4.649	0.12585	0.2158:0.6693:0.0:0.1149	.	308	Q8NGD3	OR4K5_HUMAN	Q	308	ENSP00000319511:P308Q	ENSP00000319511:P308Q	P	+	2	0	OR4K5	19459528	0.019000	0.18553	0.002000	0.10522	0.110000	0.19582	3.111000	0.50360	0.873000	0.35799	0.650000	0.86243	CCA	OR4K5	-	NULL	ENSG00000176281		0.373	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K5	HGNC	protein_coding	OTTHUMT00000409867.1		0	77	0	C	NM_001005483		20389688	1			no_errors	ENST00000315915	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.000	A	A	20389688	C	A	20389688	3	1	145	1	0	0	0	0	1	0	0	0	11112	594	21	3	925	3	OR4K5	14	20389688	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09		20389688	86959852	173	36958											
RALGAPA1	253959	genome.wustl.edu	37	chr14	36153162	36153162	+	Frame_Shift_Del	DEL	T	T	-																															atccacatcagcagaggacgTaaccccagtgtcggttccaa																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr14:36153162delT	ENST00000389698.3	-	20	3196	c.2806delA	c.(2806-2808)acgfs	p.T936fs	RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.T949fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.T936fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Del_p.T983fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	936					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						GCAGAGGACGTAACCCCAGTG	0.398																																																	0													43	53	50					14																	36153162		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2806delA	14.37:g.36153162delT	ENSP00000374348:p.Thr936fs		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Del	DEL	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.T983fs	ENST00000389698.3	37	c.2947	CCDS32065.1	14																																																																																			RALGAPA1	-	NULL	ENSG00000174373		0.398	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1		0	28	0	T	XM_210022		36153162	-1	tier1		no_errors	ENST00000258840	ensembl	human	known	74_37	frame_shift_del	28.57	5	2	DEL	0.000	-	-	36153162	T	-	36153162	7	5	145	1	0	1	0	1	0	0	0	0	13058	1638	57	0	3541	0	RALGAPA1	14	36153162	Frame_Shift_Del	DEL	T	TCGA-R6-A6XQ-01B-11D-A33E-09	15763474	36153162	71196378	174	36959											
FSCB	84075	genome.wustl.edu	37	chr14	44974442	44974442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggcctcttctgcagtggtCtcttcacctgatggaggctg	5	12	13	11	0	4	1	1	1	3	0	5	3	4	2	2	4	1	2	2	4	0	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr14:44974442C>T	ENST00000340446.4	-	1	2040	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	583	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGCAGTGGTCTCTTCACCTG	0.537																																																	0													28	30	29					14																	44974442		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1749G>A	14.37:g.44974442C>T			Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	NULL	p.E583	ENST00000340446.4	37	c.1749	CCDS9679.1	14																																																																																			FSCB	-	NULL	ENSG00000189139		0.537	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1		0	46	0	C	NM_032135		44974442	-1			no_errors	ENST00000340446	ensembl	human	known	74_37	silent	14.29	12	2	SNP	0.004	T	T	44974442	C	T	44974442	2	4	145	1	0	0	0	0	0	0	0	1	6090	912	32	3		3	FSCB	14	44974442	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	8821280	44974442	62375098	175	36960											
DLGAP5	9787	genome.wustl.edu	37	chr14	55615075	55615075	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttatttttaaattcaaaaTtctcctggttgtagaggtga	12	18	7	4	0	2	2	1	1	1	1	3	2	2	2	1	2	0	2	1	2	6	9			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr14:55615075T>C	ENST00000247191.2	-	19	2751	c.2535A>G	c.(2533-2535)gaA>gaG	p.E845E	DLGAP5_ENST00000395425.2_3'UTR	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	845					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						AAATTCAAAATTCTCCTGGTT	0.318																																																	0													76	84	81					14																	55615075		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2535A>G	14.37:g.55615075T>C			A8MTM6|B4DRM8|Q86T11|Q8NG58	Silent	SNP	pfam_GKAP	p.E845	ENST00000247191.2	37	c.2535	CCDS9723.1	14																																																																																			DLGAP5	-	NULL	ENSG00000126787		0.318	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	-	0	94	0	T	NM_014750		55615075	-1	tier1	-	no_errors	ENST00000247191	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.249	C	C	55615075	T	C	55615075	2	2	145	1	0	0	0	0	0	0	0	1	4577	1490	52	4		4	DLGAP5	14	55615075	Silent	SNP	T	TCGA-R6-A6XQ-01B-11D-A33E-09	10640633	55615075	51734465	176	36961											
RTN1	6252	genome.wustl.edu	37	chr14	60212584	60212584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagaaggttctatttccGtcagtgtgattttgacaggg	10	13	11	7	1	2	3	1	2	1	1	3	3	3	3	1	2	1	1	1	2	3	5	rs377312291		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr14:60212584G>T	ENST00000267484.5	-	2	1192	c.857C>A	c.(856-858)aCg>aAg	p.T286K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	286					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)		TTCTATTTCCGTCAGTGTGAT	0.458																																																	0								G	LYS/THR	0,4406		0,0,2203	113	106	109		857	5.5	1	14		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	RTN1	NM_021136.2	78	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	286/777	60212584	1,13005	2203	4300	6503	SO:0001583	missense	0			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.857C>A	14.37:g.60212584G>T	ENSP00000267484:p.Thr286Lys		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.T286K	ENST00000267484.5	37	c.857	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106839	0.77096	0.0	1.16E-4	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.38722	1.12	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66944	0.2841	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67608	-0.5627	10	0.52906	T	0.07	.	19.4571	0.94897	0.0:0.0:1.0:0.0	.	286	Q16799	RTN1_HUMAN	K	286;212	ENSP00000267484:T286K	ENSP00000267484:T286K	T	-	2	0	RTN1	59282337	1.000000	0.71417	0.956000	0.39512	0.775000	0.43874	5.413000	0.66399	2.588000	0.87417	0.557000	0.71058	ACG	RTN1	-	NULL	ENSG00000139970		0.458	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2		0	30	0	G			60212584	-1			no_errors	ENST00000267484	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.998	T	T	60212584	G	T	60212584	3	4	145	1	0	0	0	0	1	0	0	0	13770	1145	40	2	1570	2	RTN1	14	60212584	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	4597509	60212584	47136956	177	36962											
HIF1A	3091	genome.wustl.edu	37	chr14	62212426	62212426	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tagggaacattattacagcaGccagacgatcatgcagctac	14	8	9	10	1	1	1	1	0	0	1	1	3	1	2	1	1	7	3	1	1	5	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr14:62212426G>T	ENST00000337138.4	+	14	2485	c.2220G>T	c.(2218-2220)caG>caT	p.Q740H	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.Q764H|HIF1A_ENST00000394997.1_Missense_Mutation_p.Q741H|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Intron|HIF1A_ENST00000557538.1_Missense_Mutation_p.Q681H	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	740	ID.				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)	TATTACAGCAGCCAGACGATC	0.308																																																	0													130	126	127					14																	62212426		2203	4300	6503	SO:0001583	missense	0			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.2220G>T	14.37:g.62212426G>T	ENSP00000338018:p.Gln740His		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.Q764H	ENST00000337138.4	37	c.2292	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397414	0.62177	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000557538;ENST00000539097	T;T;T;T	0.52057	0.69;0.69;0.69;0.68	5.87	-3.79	0.04320	.	2.339110	0.01643	N	0.024150	T	0.47600	0.1454	L	0.47716	1.5	0.28279	N	0.924045	P;P	0.46220	0.874;0.874	P;P	0.47206	0.541;0.541	T	0.53322	-0.8455	10	0.56958	D	0.05	.	8.4383	0.32799	0.6067:0.1144:0.2789:0.0	.	741;740	A8MYV6;Q16665	.;HIF1A_HUMAN	H	491;681;740;741;681;764	ENSP00000338018:Q740H;ENSP00000378446:Q741H;ENSP00000451696:Q681H;ENSP00000437955:Q764H	ENSP00000338018:Q740H	Q	+	3	2	HIF1A	61282179	0.991000	0.36638	0.938000	0.37757	0.978000	0.69477	0.308000	0.19314	-0.724000	0.04908	-0.148000	0.13756	CAG	HIF1A	-	NULL	ENSG00000100644		0.308	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	-	0	46	0	G	NM_001530		62212426	1	tier1	-	no_errors	ENST00000539097	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.925	T	T	62212426	G	T	62212426	3	4	145	1	0	0	0	0	1	0	0	0	7130	962	34	3	2274	3	HIF1A	14	62212426	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1999842	62212426	45137114	178	36963											
SYNE2	23224	genome.wustl.edu	37	chr14	64619312	64619312	+	Frame_Shift_Del	DEL	A	A	-																															atcaacttgcaattaaatccAaagcactagatgagttgaaa																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr14:64619312delA	ENST00000344113.4	+	85	15882	c.15670delA	c.(15670-15672)aaafs	p.K5224fs	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Frame_Shift_Del_p.K1858fs|SYNE2_ENST00000358025.3_Frame_Shift_Del_p.K5224fs|SYNE2_ENST00000357395.3_Frame_Shift_Del_p.K1609fs|SYNE2_ENST00000394768.2_Frame_Shift_Del_p.K1609fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.K5141fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5224					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)		AATTAAATCCAAAGCACTAGA	0.353																																																	0													77	77	77					14																	64619312		2203	4300	6503	SO:0001589	frameshift_variant	0			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.15670delA	14.37:g.64619312delA	ENSP00000341781:p.Lys5224fs		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A5225fs	ENST00000344113.4	37	c.15670	CCDS41963.1	14																																																																																			SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2		0	18	0	A	NM_182914		64619312	1	tier1		no_errors	ENST00000358025	ensembl	human	known	74_37	frame_shift_del	40.00	3	2	DEL	0.994	-	-	64619312	A	-	64619312	7	5	145	1	0	1	0	1	0	0	0	0	15493	131	5	0	16004	0	SYNE2	14	64619312	Frame_Shift_Del	DEL	A	TCGA-R6-A6XQ-01B-11D-A33E-09	2406886	64619312	42730228	179	36964											
PLEK2	26499	genome.wustl.edu	37	chr14	67854146	67854146	+	Missense_Mutation	SNP	A	A	T	1	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	ccttagtaatcactttgaagAggtttccctggacattccct	9	14	7	11	0	1	2	1	1	0	1	3	3	3	3	3	2	0	2	3	2	3	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr14:67854146A>T	ENST00000216446.4	-	9	1102	c.962T>A	c.(961-963)cTc>cAc	p.L321H		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	321	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		CACTTTGAAGAGGTTTCCCTG	0.433																																																	0													170	154	159					14																	67854146		2203	4300	6503	SO:0001583	missense	0			AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"Pleckstrin homology (PH) domain containing"	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.962T>A	14.37:g.67854146A>T	ENSP00000216446:p.Leu321His		Q96JT0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology	p.L321H	ENST00000216446.4	37	c.962	CCDS9782.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.778343|4.778343	0.90195|0.90195	.|.	.|.	ENSG00000100558|ENSG00000100558	ENST00000216446|ENST00000556532	T|.	0.75821|.	-0.97|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73621|0.73621	0.3610|0.3610	M|M	0.72353|0.72353	2.195|2.195	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.73780|0.73780	-0.3875|-0.3875	10|5	0.52906|.	T|.	0.07|.	-3.3367|-3.3367	14.8066|14.8066	0.69962|0.69962	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	321|.	Q9NYT0|.	PLEK2_HUMAN|.	H|T	321|85	ENSP00000216446:L321H|.	ENSP00000216446:L321H|.	L|S	-|-	2|1	0|0	PLEK2|PLEK2	66923899|66923899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.011000|8.011000	0.88624|0.88624	2.238000|2.238000	0.73509|0.73509	0.533000|0.533000	0.62120|0.62120	CTC|TCT	PLEK2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000100558		0.433	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEK2	HGNC	protein_coding	OTTHUMT00000412547.2	-	0	67	0	A			67854146	-1	tier1	-	no_errors	ENST00000216446	ensembl	human	known	74_37	missense	93.75	1	15	SNP	1.000	T	T	67854146	A	T	67854146	3	4	145	1	0	0	0	0	1	0	0	0	12093	304	11	5	103	5	PLEK2	14	67854146	Missense_Mutation	SNP	A	TCGA-R6-A6XQ-01B-11D-A33E-09	3234834	67854146	39495394	180	36965											
FLVCR2	55640	genome.wustl.edu	37	chr14	76100017	76100017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtccactcttctgaatcGcatggtgatctggcactacc	7	13	8	13	1	3	2	0	2	3	0	5	2	4	2	2	2	1	2	2	2	2	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr14:76100017G>T	ENST00000238667.4	+	4	1354	c.998G>T	c.(997-999)cGc>cTc	p.R333L	FLVCR2_ENST00000539311.1_Missense_Mutation_p.R128L|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Missense_Mutation_p.R81L|FLVCR2_ENST00000555027.1_Missense_Mutation_p.R48L|FLVCR2_ENST00000556856.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	333					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)		CTTCTGAATCGCATGGTGATC	0.488																																																	0													240	202	215					14																	76100017		2203	4300	6503	SO:0001583	missense	0			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.998G>T	14.37:g.76100017G>T	ENSP00000238667:p.Arg333Leu		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom	p.R333L	ENST00000238667.4	37	c.998	CCDS9844.1	14	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512728	0.85389	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000555058;ENST00000553341;ENST00000553587;ENST00000554580;ENST00000555027	T;T;T;T;T;T;T	0.55234	0.69;0.69;0.53;0.53;0.53;0.53;0.53	5.69	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.77820	2.39	0.80722	D	1	P;P	0.48407	0.91;0.806	P;P	0.49953	0.627;0.627	T	0.65821	-0.6075	10	0.51188	T	0.08	-16.3905	11.7446	0.51813	0.083:0.0:0.917:0.0	.	128;333	B7Z485;Q9UPI3	.;FLVC2_HUMAN	L	333;128;81;34;81;33;48	ENSP00000238667:R333L;ENSP00000443439:R128L;ENSP00000451104:R81L;ENSP00000452584:R34L;ENSP00000451603:R81L;ENSP00000451781:R33L;ENSP00000452453:R48L	ENSP00000238667:R333L	R	+	2	0	AC007182.1	75169770	1.000000	0.71417	0.990000	0.47175	0.973000	0.67179	6.052000	0.71080	1.407000	0.46875	0.591000	0.81541	CGC	FLVCR2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000119686		0.488	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	HGNC	protein_coding	OTTHUMT00000413672.1		0	87	0	G	NM_017791		76100017	1			no_errors	ENST00000238667	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	76100017	G	T	76100017	3	4	145	1	0	0	0	0	1	0	0	0	5968	1087	38	2	1012	2	FLVCR2	14	76100017	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	8245871	76100017	31249523	181	36966											
SERPINA3	12	genome.wustl.edu	37	chr14	95090124	95090124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaacatcttcttcatgagCaaagtcaccaatcccaagca	15	8	5	13	0	4	2	2	1	2	1	5	2	5	2	2	0	3	2	2	0	4	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr14:95090124C>A	ENST00000467132.1	+	5	2393	c.1245C>A	c.(1243-1245)agC>agA	p.S415R	SERPINA3_ENST00000482740.1_Missense_Mutation_p.S197R|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S415R|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S415R			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	415					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)	p.S415R(1)		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)		TCTTCATGAGCAAAGTCACCA	0.507																																																	1	Substitution - Missense(1)	ovary(1)											166	146	153					14																	95090124		2203	4300	6503	SO:0001583	missense	0			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.1245C>A	14.37:g.95090124C>A	ENSP00000450540:p.Ser415Arg		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S415R	ENST00000467132.1	37	c.1245	CCDS32150.1	14	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558727	0.45590	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	4.99	3.04	0.35103	Serpin domain (3);	0.652042	0.14557	N	0.312326	T	0.79986	0.4541	L	0.31926	0.97	0.28089	N	0.931888	B;P	0.50710	0.358;0.938	B;B	0.42282	0.378;0.382	T	0.74702	-0.3576	10	0.62326	D	0.03	.	9.1458	0.36933	0.2206:0.6465:0.1329:0.0	.	415;440	P01011;G3V5I3	AACT_HUMAN;.	R	440;415;415;415;197	ENSP00000452367:S440R;ENSP00000376793:S415R;ENSP00000376795:S415R;ENSP00000450540:S415R;ENSP00000451119:S197R	ENSP00000376793:S415R	S	+	3	2	SERPINA3	94159877	0.086000	0.21541	0.027000	0.17364	0.008000	0.06430	-0.584000	0.05800	2.460000	0.83146	0.563000	0.77884	AGC	SERPINA3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000196136		0.507	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	HGNC	protein_coding	OTTHUMT00000268080.3		0	47	0	C	NM_001085		95090124	1			no_errors	ENST00000393078	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.997	A	A	95090124	C	A	95090124	3	1	145	1	0	0	0	0	1	0	0	0	14135	709	25	3	1259	3	SERPINA3	14	95090124	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	18990107	95090124	12259416	182	36967											
C14orf49	161176	genome.wustl.edu	37	chr14	95932292	95932292	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttggccttcactgcatcGtactcagccttcattctctt	5	15	6	15	1	4	0	3	0	1	0	6	0	4	0	3	1	3	2	3	1	1	6	rs149765715		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr14:95932292G>T	ENST00000334258.5	-	3	617	c.603C>A	c.(601-603)taC>taA	p.Y201*	SYNE3_ENST00000553340.1_Nonsense_Mutation_p.Y201*|SYNE3_ENST00000557275.1_Nonsense_Mutation_p.Y201*	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	201					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						TCACTGCATCGTACTCAGCCT	0.597																																																	0													139	109	119					14																	95932292		2203	4300	6503	SO:0001587	stop_gained	0			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.603C>A	14.37:g.95932292G>T	ENSP00000334308:p.Tyr201*		A6H8H3|Q86SX5|Q8N7G8	Nonsense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.Y201*	ENST00000334258.5	37	c.603	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	g	13.46	2.243694	0.39697	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	.	.	.	4.06	-0.87	0.10646	.	0.000000	0.34853	N	0.003624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2042	11.2725	0.49147	0.4544:0.0:0.5456:0.0	.	.	.	.	X	201	.	ENSP00000334308:Y201X	Y	-	3	2	C14orf49	95002045	0.998000	0.40836	0.009000	0.14445	0.045000	0.14185	0.929000	0.28844	-0.384000	0.07845	-1.902000	0.00527	TAC	SYNE3	-	NULL	ENSG00000176438		0.597	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2		0	42	0	G	NM_152592		95932292	-1			no_errors	ENST00000334258	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	0.659	T	T	95932292	G	T	95932292	4	4	145	1	0	0	0	0	0	1	0	0	1781	1140	40	2	2384	2	C14orf49	14	95932292	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	842168	95932292	11417248	183	36968											
AHNAK2	113146	genome.wustl.edu	37	chr14	105416271	105416272	+	Missense_Mutation	DNP	GC	GC	AG																															accgaggcctcgatggacttGcctggggcagacaccccgaa																								rs527306736|rs386781101|rs2582509	byFrequency	TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr14:105416271_105416272GC>AG	ENST00000333244.5	-	7	5635_5636	c.5516_5517GC>CT	c.(5515-5517)gGC>gCT	p.G1839A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1839						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)			CGATGGACTTGCCTGGGGCAGA	0.609																																																	0																																										SO:0001583	missense	0			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.5516_5517delinsAG	14.37:g.105416271_105416272delinsAG	ENSP00000353114:p.Gly1839Ala		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent|Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G1839|p.G1839A	ENST00000333244.5	37	c.5517|c.5516	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.609	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	242|244	0	G|C	NM_138420		105416271|105416272	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	silent|missense	37.84|37.67	92|91	56|55	SNP	0.679|0.417	A|G	AG	105416272	GC	AG	105416271	3	1	145	1	0	0	0	0	1	0	0	0	415	1306	46	3	11874	3	AHNAK2	14	105416271	Missense_Mutation	DNP	GC	TCGA-R6-A6XQ-01B-11D-A33E-09	9483979	105416271	1933269	184	36969											
CYFIP1	23191	genome.wustl.edu	37	chr15	22999533	22999533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactgtggagtgccatgcaGtttgtctactgcattcccgt	7	13	11	10	1	1	1	0	0	1	1	2	2	2	2	2	1	4	3	2	1	1	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr15:22999533G>T	ENST00000313077.7	+	29	3530	c.3405G>T	c.(3403-3405)caG>caT	p.Q1135H	CYFIP1_ENST00000560848.1_Missense_Mutation_p.Q1135H|CYFIP1_ENST00000435939.2_Missense_Mutation_p.Q704H	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GTGCCATGCAGTTTGTCTACT	0.587																																																	0													79	71	74					15																	22999533		2203	4300	6503	SO:0001583	missense	0			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.3405G>T	15.37:g.22999533G>T	ENSP00000324549:p.Gln1135His			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.Q1135H	ENST00000313077.7	37	c.3405	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016888	0.93404	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.29397	1.57;1.57	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000006	T	0.64800	0.2631	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.73380	0.98;0.958	T	0.72821	-0.4177	10	0.87932	D	0	-36.6457	19.1954	0.93686	0.0:0.0:1.0:0.0	.	704;1135	Q7L576-2;Q7L576	.;CYFP1_HUMAN	H	1135;1137;704	ENSP00000324549:Q1135H;ENSP00000405956:Q704H	ENSP00000324549:Q1135H	Q	+	3	2	CYFIP1	20550974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.681000	0.74523	2.624000	0.88883	0.561000	0.74099	CAG	CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	ENSG00000068793		0.587	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2		0	38	0	G	NM_014608		22999533	1			no_errors	ENST00000313077	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	22999533	G	T	22999533	3	4	145	1	0	0	0	0	1	0	0	0	4146	1020	36	3	3896	3	CYFIP1	15	22999533	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		22999533	79531859	185	36970											
ARHGAP11A	9824	genome.wustl.edu	37	chr15	32920994	32920994	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctattacacctcaagaaGaaagaattggtaggtattta	15	13	7	6	0	2	3	1	0	1	3	2	3	2	3	1	2	1	2	1	2	9	8			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr15:32920994G>T	ENST00000361627.3	+	7	1650	c.928G>T	c.(928-930)Gaa>Taa	p.E310*	ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.E121*|ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.E121*|ARHGAP11A_ENST00000567348.1_Nonsense_Mutation_p.E310*|ARHGAP11A_ENST00000563864.1_Nonsense_Mutation_p.E310*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	310					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)		ACCTCAAGAAGAAAGAATTGG	0.249																																					Colon(45;757 1134 30003 36652)												0													40	43	42					15																	32920994		2198	4281	6479	SO:0001587	stop_gained	0			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.928G>T	15.37:g.32920994G>T	ENSP00000355090:p.Glu310*		B4DZN9|Q6PI96|Q9Y3S6	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E310*	ENST00000361627.3	37	c.928	CCDS10028.1	15	.	.	.	.	.	.	.	.	.	.	.	43	10.314707	0.99381	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	.	.	.	4.99	4.99	0.66335	.	0.331370	0.26103	N	0.026335	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.8299	0.92133	0.0:0.0:1.0:0.0	.	.	.	.	X	310;121	.	ENSP00000355090:E310X	E	+	1	0	ARHGAP11A	30708286	1.000000	0.71417	0.503000	0.27626	0.427000	0.31564	8.421000	0.90259	2.753000	0.94483	0.467000	0.42956	GAA	ARHGAP11A	-	NULL	ENSG00000198826		0.249	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11A	HGNC	protein_coding	OTTHUMT00000251417.1	-	0	78	0	G	NM_014783		32920994	1	tier1	-	no_errors	ENST00000361627	ensembl	human	known	74_37	nonsense	6.56	56	4	SNP	0.995	T	T	32920994	G	T	32920994	4	4	145	1	0	0	0	0	0	1	0	0	863	943	33	3	954	3	ARHGAP11A	15	32920994	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	9921461	32920994	69610398	186	36971											
DNAJC17	55192	genome.wustl.edu	37	chr15	41067283	41067283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccaccttttgactcatcCtccttcttgcacttccattt	6	17	3	15	0	2	1	1	1	1	0	5	1	5	1	5	0	2	1	5	0	1	7			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr15:41067283C>A	ENST00000220496.4	-	8	576	c.546G>T	c.(544-546)gaG>gaT	p.E182D		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	182	RRM.				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)		TTGACTCATCCTCCTTCTTGC	0.498																																																	0													166	127	140					15																	41067283		2203	4300	6503	SO:0001583	missense	0			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.546G>T	15.37:g.41067283C>A	ENSP00000220496:p.Glu182Asp			Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.E182D	ENST00000220496.4	37	c.546	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452869	0.26161	.	.	ENSG00000104129	ENST00000220496	T	0.17691	2.26	5.02	-2.31	0.06765	.	0.099482	0.64402	D	0.000002	T	0.05181	0.0138	N	0.10782	0.045	0.42148	D	0.991547	B	0.06786	0.001	B	0.06405	0.002	T	0.35822	-0.9773	10	0.15499	T	0.54	.	1.1206	0.01724	0.2139:0.3065:0.1083:0.3714	.	182	Q9NVM6	DJC17_HUMAN	D	182	ENSP00000220496:E182D	ENSP00000220496:E182D	E	-	3	2	DNAJC17	38854575	0.999000	0.42202	0.603000	0.28903	0.959000	0.62525	0.468000	0.22051	-0.103000	0.12175	0.561000	0.74099	GAG	DNAJC17	-	NULL	ENSG00000104129		0.498	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	HGNC	protein_coding	OTTHUMT00000252356.2	-	0	51	0	C	NM_018163		41067283	-1	tier1	-	no_errors	ENST00000220496	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.922	A	A	41067283	C	A	41067283	3	1	145	1	0	0	0	0	1	0	0	0	4650	680	24	3	384	3	DNAJC17	15	41067283	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	8146289	41067283	61464109	187	36972											
CHP	11261	genome.wustl.edu	37	chr15	41571030	41571030	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcatcgcagacaggacCattcaggaggctgatcagga	12	5	14	10	1	2	2	2	1	0	1	3	5	2	5	1	5	1	4	1	5	0	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr15:41571030C>A	ENST00000334660.5	+	6	717	c.477C>A	c.(475-477)acC>acA	p.T159T	CHP1_ENST00000560397.1_Intron|CHP1_ENST00000558351.1_3'UTR	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	159	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for nuclear export signal.				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)										CAGACAGGACCATTCAGGAGG	0.468																																																	0													154	126	135					15																	41571030		2203	4300	6503	SO:0001819	synonymous_variant	0				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.477C>A	15.37:g.41571030C>A			B2R6H9|Q6FHZ9	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.T159	ENST00000334660.5	37	c.477	CCDS10073.1	15																																																																																			CHP1	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000187446		0.468	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP1	HGNC	protein_coding	OTTHUMT00000252554.2	-	0	72	0	C	NM_007236		41571030	1	tier1	-	no_errors	ENST00000334660	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.998	A	A	41571030	C	A	41571030	2	1	145	1	0	0	0	0	0	0	0	1	3373	581	21	3		3	CHP	15	41571030	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	503747	41571030	60960362	188	36973											
RPAP1	26015	genome.wustl.edu	37	chr15	41827072	41827072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgggtccctgaaagctgtgGctgctcccaggaagctggca	7	9	14	11	0	0	1	0	1	0	0	2	2	2	2	2	4	3	5	2	4	2	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr15:41827072G>T	ENST00000304330.4	-	6	719	c.603C>A	c.(601-603)agC>agA	p.S201R	RPAP1_ENST00000561603.1_Missense_Mutation_p.S201R|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	201						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)		GAAAGCTGTGGCTGCTCCCAG	0.547																																																	0													85	77	80					15																	41827072		2203	4300	6503	SO:0001583	missense	0			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.603C>A	15.37:g.41827072G>T	ENSP00000306123:p.Ser201Arg		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.S201R	ENST00000304330.4	37	c.603	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682066	0.29872	.	.	ENSG00000103932	ENST00000304330	T	0.13196	2.61	5.22	3.17	0.36434	.	0.404999	0.28021	N	0.016917	T	0.10895	0.0266	L	0.54323	1.7	0.09310	N	1	P	0.42409	0.779	B	0.36030	0.216	T	0.28618	-1.0038	10	0.87932	D	0	-12.9108	3.8749	0.09051	0.0902:0.1587:0.5875:0.1635	.	201	Q9BWH6	RPAP1_HUMAN	R	201	ENSP00000306123:S201R	ENSP00000306123:S201R	S	-	3	2	RPAP1	39614364	0.845000	0.29573	0.177000	0.23020	0.115000	0.19883	2.687000	0.46976	1.168000	0.42723	0.491000	0.48974	AGC	RPAP1	-	NULL	ENSG00000103932		0.547	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	-	0	47	0	G	NM_015540		41827072	-1	tier1	-	no_errors	ENST00000304330	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.001	T	T	41827072	G	T	41827072	3	4	145	1	0	0	0	0	1	0	0	0	13586	1194	42	3	3658	3	RPAP1	15	41827072	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	256042	41827072	60704320	189	36974											
C15orf43	145645	genome.wustl.edu	37	chr15	45270773	45270773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggatatttggcatatcatGttcaaaatgaaattaatatg	16	14	7	4	0	2	1	2	1	0	0	2	2	2	2	0	2	0	2	0	2	7	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr15:45270773G>T	ENST00000340827.3	+	7	627	c.610G>T	c.(610-612)Gtt>Ttt	p.V204F		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	204										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)		GGCATATCATGTTCAAAATGA	0.274																																																	0													44	46	46					15																	45270773		2193	4286	6479	SO:0001583	missense	0			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.610G>T	15.37:g.45270773G>T	ENSP00000340644:p.Val204Phe			Missense_Mutation	SNP	NULL	p.V204F	ENST00000340827.3	37	c.610	CCDS10115.1	15	.	.	.	.	.	.	.	.	.	.	G	13.96	2.394296	0.42410	.	.	ENSG00000167014	ENST00000340827	T	0.44881	0.91	4.05	2.05	0.26809	.	0.539898	0.16191	N	0.225368	T	0.28797	0.0714	N	0.24115	0.695	0.23827	N	0.996737	P	0.39250	0.665	B	0.41088	0.347	T	0.13045	-1.0524	10	0.87932	D	0	.	6.273	0.20965	0.2414:0.0:0.7586:0.0	.	204	Q8NHR7	CO043_HUMAN	F	204	ENSP00000340644:V204F	ENSP00000340644:V204F	V	+	1	0	C15orf43	43058065	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.263000	0.33004	0.793000	0.33875	0.298000	0.19748	GTT	C15orf43	-	NULL	ENSG00000167014		0.274	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf43	HGNC	protein_coding	OTTHUMT00000254032.1	-	0	68	0	G	NM_152448		45270773	1	tier1	-	no_errors	ENST00000340827	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	45270773	G	T	45270773	3	4	145	1	0	0	0	0	1	0	0	0	1802	1377	48	3	636	3	C15orf43	15	45270773	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3443701	45270773	57260619	190	36975											
HERC1	8925	genome.wustl.edu	37	chr15	64048745	64048745	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aactgaagacttctccttctGtcgtaaaggctaaagtgtga	12	12	9	8	1	2	3	0	2	2	1	4	3	2	3	1	1	1	2	1	1	6	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr15:64048745G>T	ENST00000443617.2	-	5	1511	c.1424C>A	c.(1423-1425)aCa>aAa	p.T475K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	475					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						TTCTCCTTCTGTCGTAAAGGC	0.398																																																	0													110	103	105					15																	64048745		1873	4098	5971	SO:0001583	missense	0			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.1424C>A	15.37:g.64048745G>T	ENSP00000390158:p.Thr475Lys		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.T475K	ENST00000443617.2	37	c.1424	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949694	0.34377	.	.	ENSG00000103657	ENST00000443617	T	0.79940	-1.32	5.14	5.14	0.70334	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	U	0.000000	T	0.67822	0.2934	N	0.14661	0.345	0.42665	D	0.993495	B;B	0.15473	0.013;0.013	B;B	0.09377	0.004;0.004	T	0.62407	-0.6861	10	0.17369	T	0.5	.	18.9606	0.92676	0.0:0.0:1.0:0.0	.	475;475	C9JUT5;Q15751	.;HERC1_HUMAN	K	475	ENSP00000390158:T475K	ENSP00000390158:T475K	T	-	2	0	HERC1	61835798	1.000000	0.71417	0.962000	0.40283	0.983000	0.72400	4.791000	0.62460	2.554000	0.86153	0.561000	0.74099	ACA	HERC1	-	superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000103657		0.398	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1		0	72	0	G	NM_003922		64048745	-1			no_errors	ENST00000443617	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.750	T	T	64048745	G	T	64048745	3	4	145	1	0	0	0	0	1	0	0	0	7084	1377	48	3	13457	3	HERC1	15	64048745	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	18777972	64048745	38482647	191	36976											
HCN4	10021	genome.wustl.edu	37	chr15	73635991	73635991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccaccacgatccctgtgCggaagttgaggaccaagtcg	9	7	11	14	3	0	1	0	1	0	0	3	4	2	3	5	2	1	1	5	2	2	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr15:73635991C>T	ENST00000261917.3	-	2	1937	c.944G>A	c.(943-945)cGc>cAc	p.R315H	RP11-272D12.1_ENST00000557981.1_RNA|RP11-272D12.1_ENST00000558742.1_RNA	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	315					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)		GATCCCTGTGCGGAAGTTGAG	0.488																																																	0													93	77	82					15																	73635991		2198	4297	6495	SO:0001583	missense	0			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.944G>A	15.37:g.73635991C>T	ENSP00000261917:p.Arg315His		Q9UMQ7	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.R315H	ENST00000261917.3	37	c.944	CCDS10248.1	15	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418677	0.83559	.	.	ENSG00000138622	ENST00000261917	D	0.98192	-4.78	5.34	5.34	0.76211	Ion transport (1);	.	.	.	.	D	0.98563	0.9520	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99146	1.0857	9	0.46703	T	0.11	.	19.4036	0.94640	0.0:1.0:0.0:0.0	.	315	Q9Y3Q4	HCN4_HUMAN	H	315	ENSP00000261917:R315H	ENSP00000261917:R315H	R	-	2	0	HCN4	71423044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.671000	0.83941	2.657000	0.90304	0.655000	0.94253	CGC	HCN4	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000138622		0.488	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	-	0	95	0	C	NM_005477		73635991	-1	tier1	-	no_errors	ENST00000261917	ensembl	human	known	74_37	missense	20.00	64	16	SNP	1.000	T	T	73635991	C	T	73635991	3	4	145	1	0	0	0	0	1	0	0	0	7026	768	27	1	2695	1	HCN4	15	73635991	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	9587246	73635991	28895401	192	36977											
PPCDC	60490	genome.wustl.edu	37	chr15	75320765	75320765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccctgaagttgcctcttCtggtgtcaaagcttttggac	7	13	10	11	0	3	1	1	1	2	0	3	2	3	2	2	2	3	2	2	2	2	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr15:75320765C>A	ENST00000342932.3	+	2	250	c.106C>A	c.(106-108)Ctg>Atg	p.L36M	PPCDC_ENST00000568649.1_Missense_Mutation_p.L36M|PPCDC_ENST00000567336.1_Missense_Mutation_p.L36M|PPCDC_ENST00000564923.1_Missense_Mutation_p.L36M	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	36					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)	cytosol (GO:0005829)	phosphopantothenoylcysteine decarboxylase activity (GO:0004633)			breast(1)|cervix(1)	2						GTTGCCTCTTCTGGTGTCAAA	0.572																																																	0													148	125	133					15																	75320765		2197	4295	6492	SO:0001583	missense	0			AK027491	CCDS10275.1, CCDS73761.1, CCDS73759.1, CCDS73760.1	15q24.2	2005-08-16			ENSG00000138621	ENSG00000138621	4.1.1.36		28107	protein-coding gene	gene with protein product		609854				12975309, 11923312	Standard	XM_005254579		Approved	MDS018, FLJ14585	uc002azo.3	Q96CD2	OTTHUMG00000142824	ENST00000342932.3:c.106C>A	15.37:g.75320765C>A	ENSP00000343190:p.Leu36Met		Q96SX0|Q9HC17	Missense_Mutation	SNP	pfam_Flavoprotein,superfamily_Flavoprotein	p.L36M	ENST00000342932.3	37	c.106	CCDS10275.1	15	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457369	0.63401	.	.	ENSG00000138621	ENST00000342932	T	0.50277	0.75	5.03	4.11	0.48088	Flavoprotein (3);	0.000000	0.64402	D	0.000003	T	0.70736	0.3258	M	0.90019	3.08	0.80722	D	1	D	0.57899	0.981	D	0.66979	0.948	T	0.75698	-0.3227	10	0.72032	D	0.01	-13.5765	10.9003	0.47047	0.0:0.9132:0.0:0.0868	.	36	Q96CD2	COAC_HUMAN	M	36	ENSP00000343190:L36M	ENSP00000343190:L36M	L	+	1	2	PPCDC	73107818	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.120000	0.41968	1.137000	0.42214	0.462000	0.41574	CTG	PPCDC	-	pfam_Flavoprotein,superfamily_Flavoprotein	ENSG00000138621		0.572	PPCDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPCDC	HGNC	protein_coding	OTTHUMT00000286416.1	-	0	52	0	C	NM_021823		75320765	1	tier1	-	no_errors	ENST00000342932	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	75320765	C	A	75320765	3	1	145	1	0	0	0	0	1	0	0	0	12343	912	32	3	108	3	PPCDC	15	75320765	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	1684774	75320765	27210627	193	36978											
CHRNB4	1143	genome.wustl.edu	37	chr15	78921536	78921536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggaggtggcggtggcctCgggcttggtcacgcatgact	4	9	19	9	3	1	1	1	1	0	0	2	2	1	2	1	8	0	2	1	8	0	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr15:78921536C>T	ENST00000261751.3	-	5	1222	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	371					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)	GCGGTGGCCTCGGGCTTGGTC	0.632																																																	0													48	51	50					15																	78921536		2196	4293	6489	SO:0001583	missense	0			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.1111G>A	15.37:g.78921536C>T	ENSP00000261751:p.Glu371Lys		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E371K	ENST00000261751.3	37	c.1111	CCDS10306.1	15	.	.	.	.	.	.	.	.	.	.	C	1.132	-0.652220	0.03480	.	.	ENSG00000117971	ENST00000261751	T	0.70516	-0.49	4.76	-0.993	0.10228	Neurotransmitter-gated ion-channel transmembrane domain (2);	7.471660	0.00166	N	0.000000	T	0.57036	0.2026	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.37776	-0.9691	10	0.17369	T	0.5	.	10.1407	0.42734	0.0:0.4569:0.4106:0.1325	.	371	P30926	ACHB4_HUMAN	K	371	ENSP00000261751:E371K	ENSP00000261751:E371K	E	-	1	0	CHRNB4	76708591	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.647000	0.24812	-0.879000	0.04002	-1.094000	0.02160	GAG	CHRNB4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000117971		0.632	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB4	HGNC	protein_coding	OTTHUMT00000290108.1	-	0	103	0	C			78921536	-1	tier1	-	no_errors	ENST00000261751	ensembl	human	known	74_37	missense	21.21	76	21	SNP	0.000	T	T	78921536	C	T	78921536	3	4	145	1	0	0	0	0	1	0	0	0	3400	893	31	1	393	1	CHRNB4	15	78921536	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	3600771	78921536	23609856	194	36979											
SLCO3A1	28232	genome.wustl.edu	37	chr15	92706314	92706314	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacataggacaaagtttatCtataacctggaagaccatga	17	9	7	8	0	1	2	0	1	1	1	1	4	1	4	2	2	1	1	2	2	6	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr15:92706314C>A	ENST00000318445.6	+	10	2296	c.2082C>A	c.(2080-2082)atC>atA	p.I694I	RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000424469.2_Intron|SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	694					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CAAAGTTTATCTATAACCTGG	0.478																																																	0													98	106	103					15																	92706314		2198	4298	6496	SO:0001819	synonymous_variant	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.2082C>A	15.37:g.92706314C>A			A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.I694	ENST00000318445.6	37	c.2082	CCDS10371.1	15																																																																																			SLCO3A1	-	NULL	ENSG00000176463		0.478	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	-	0	64	0	C	NM_013272		92706314	1	tier1	-	no_errors	ENST00000318445	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	A	A	92706314	C	A	92706314	2	1	145	1	0	0	0	0	0	0	0	1	14773	903	32	3		3	SLCO3A1	15	92706314	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	13784778	92706314	9825078	195	36980											
CACNA1H	8912	genome.wustl.edu	37	chr16	1254250	1254250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccacgcgaccaccccgtgCgacggacacaccaggcccag	9	1	10	21	5	0	0	0	0	0	0	0	3	0	1	7	2	1	0	7	2	0	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:1254250C>T	ENST00000348261.5	+	10	2491	c.2243C>T	c.(2242-2244)gCg>gTg	p.A748V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A748V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A748V|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	748			A -> V (in ECA6). {ECO:0000269|PubMed:12891677}.		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)	CCACCCCGTGCGACGGACACA	0.711																																																	0			GRCh37	CM032208	CACNA1H	M							13	17	15					16																	1254250		2075	4190	6265	SO:0001583	missense	0			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.2243C>T	16.37:g.1254250C>T	ENSP00000334198:p.Ala748Val		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.A748V	ENST00000348261.5	37	c.2243	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	C	3.376	-0.127342	0.06753	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96427	-4.01;-3.96	2.81	-4.33	0.03677	.	0.591999	0.17963	N	0.156111	D	0.83959	0.5367	N	0.03608	-0.345	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.09377	0.004;0.001	T	0.76375	-0.2982	10	0.27785	T	0.31	.	2.7589	0.05300	0.3588:0.2748:0.0:0.3664	.	748;748	O95180-2;O95180	.;CAC1H_HUMAN	V	748	ENSP00000334198:A748V;ENSP00000351401:A748V	ENSP00000334198:A748V	A	+	2	0	CACNA1H	1194251	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.805000	0.04530	-1.167000	0.02779	-0.314000	0.08810	GCG	CACNA1H	-	NULL	ENSG00000196557		0.711	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	-	0	80	0	C	NM_001005407		1254250	1	tier1	-	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	34.78	45	24	SNP	0.000	T	T	1254250	C	T	1254250	3	4	145	1	0	0	0	0	1	0	0	0	2552	768	27	1	2277	1	CACNA1H	16	1254250	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09		1254250	89100503	196	36981											
CRAMP1L	57585	genome.wustl.edu	37	chr16	1676115	1676115	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaggtccggcggcagtGggagtcgtggagcacagagg	11	4	18	8	3	0	1	0	0	0	1	2	3	1	3	1	6	1	2	1	6	2	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:1676115G>A	ENST00000397412.3	+	3	587	c.488G>A	c.(487-489)tGg>tAg	p.W163*	CRAMP1L_ENST00000436138.3_Nonsense_Mutation_p.W160*|CRAMP1L_ENST00000293925.5_Nonsense_Mutation_p.W163*|LA16c-395F10.1_ENST00000415176.1_RNA			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	163	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CGGCGGCAGTGGGAGTCGTGG	0.647																																																	0													75	79	78					16																	1676115		692	1591	2283	SO:0001587	stop_gained	0			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.488G>A	16.37:g.1676115G>A	ENSP00000380559:p.Trp163*		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Nonsense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.W163*	ENST00000397412.3	37	c.488	CCDS10440.2	16	.	.	.	.	.	.	.	.	.	.	G	37	6.623517	0.97714	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-20.2845	20.074	0.97736	0.0:0.0:1.0:0.0	.	.	.	.	X	163;163;160	.	ENSP00000293925:W163X	W	+	2	0	CRAMP1L	1616116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.553000	0.98118	2.746000	0.94184	0.655000	0.94253	TGG	CRAMP1L	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000007545		0.647	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	-	0	87	0	G			1676115	1	tier1	-	no_errors	ENST00000293925	ensembl	human	known	74_37	nonsense	6.78	54	4	SNP	1.000	A	A	1676115	G	A	1676115	4	1	145	1	0	0	0	0	0	1	0	0	3853	1357	47	3	494	3	CRAMP1L	16	1676115	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	421865	1676115	88678638	197	36982											
MMP25	64386	genome.wustl.edu	37	chr16	3097523	3097523	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcatgcagaggttcgcGgggctgccggagaccggccg	8	5	17	11	5	1	2	1	0	0	2	2	3	1	2	3	5	2	3	3	5	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:3097523G>A	ENST00000336577.4	+	2	444	c.207G>A	c.(205-207)gcG>gcA	p.A69A		NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	70					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)	AGAGGTTCGCGGGGCTGCCGG	0.667																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)												0													52	60	57					16																	3097523		2198	4300	6498	SO:0001819	synonymous_variant	0			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.207G>A	16.37:g.3097523G>A			Q96F04|Q96TE2	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.A69	ENST00000336577.4	37	c.207	CCDS10492.1	16																																																																																			MMP25	-	pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like	ENSG00000008516		0.667	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	HGNC	protein_coding	OTTHUMT00000437116.1	-	0	129	0	G	NM_022468		3097523	1	tier1	-	no_errors	ENST00000336577	ensembl	human	known	74_37	silent	62.67	28	47	SNP	0.007	A	A	3097523	G	A	3097523	2	1	145	1	0	0	0	0	0	0	0	1	9700	1103	39	1		1	MMP25	16	3097523	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1421408	3097523	87257230	198	36983											
C16orf89	146556	genome.wustl.edu	37	chr16	5094401	5094401	+	3'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggctctctgtttgctGgggggtattctgccaggatg	3	14	17	7	0	2	0	0	0	2	0	3	1	2	1	1	6	2	4	1	6	1	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:5094401G>T	ENST00000315997.5	-	0	1593				C16orf89_ENST00000472572.3_Missense_Mutation_p.P345Q|C16orf89_ENST00000474471.3_3'UTR|C16orf89_ENST00000350219.4_3'UTR|ALG1_ENST00000588623.1_Intron|RP11-165E7.1_ENST00000588778.1_RNA|C16orf89_ENST00000422873.1_Missense_Mutation_p.P383Q	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89							cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TCTGTTTGCTGGGGGGTATTC	0.612																																																	0													63	73	70					16																	5094401		2036	4188	6224	SO:0001624	3_prime_UTR_variant	0				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.*183C>A	16.37:g.5094401G>T			B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	NULL	p.P383Q	ENST00000315997.5	37	c.1148	CCDS42116.2	16	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738436	0.49045	.	.	ENSG00000153446	ENST00000472572;ENST00000422873	T;T	0.28895	1.59;1.59	4.29	1.05	0.20165	.	.	.	.	.	T	0.42381	0.1200	M	0.64997	1.995	0.09310	N	1	D	0.59767	0.986	P	0.58454	0.839	T	0.20207	-1.0282	9	0.51188	T	0.08	.	7.0442	0.25037	0.0953:0.3297:0.5749:0.0	.	383	G3V0F0	.	Q	345;383	ENSP00000420566:P345Q;ENSP00000390402:P383Q	ENSP00000390402:P383Q	P	-	2	0	C16orf89	5034402	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	0.616000	0.24344	0.064000	0.16427	0.448000	0.29417	CCA	C16orf89	-	NULL	ENSG00000153446		0.612	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1		0	64	0	G	NM_152459		5094401	-1			no_errors	ENST00000422873	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T	T	5094401	G	T	5094401	1	4	145	0	1	0	0	0	0	0	0	0	1847	1348	47	3		3	C16orf89	16	5094401	3'UTR	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1996878	5094401	85260352	199	36984											
C16orf89	146556	genome.wustl.edu	37	chr16	5105289	5105289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtttctgccagctgaGaatggcctccagccaccgga	7	9	11	14	1	1	1	0	1	1	1	2	3	2	2	5	2	4	3	5	2	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:5105289G>T	ENST00000315997.5	-	6	1027	c.826C>A	c.(826-828)Ctc>Atc	p.L276I	C16orf89_ENST00000472572.3_Missense_Mutation_p.L276I|C16orf89_ENST00000474471.3_Missense_Mutation_p.L308I|C16orf89_ENST00000350219.4_Missense_Mutation_p.L314I|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.L314I	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	276						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TGCCAGCTGAGAATGGCCTCC	0.637																																																	0													27	29	29					16																	5105289		1955	4162	6117	SO:0001583	missense	0				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.826C>A	16.37:g.5105289G>T	ENSP00000324672:p.Leu276Ile		B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	NULL	p.L314I	ENST00000315997.5	37	c.940	CCDS42116.2	16	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730897	0.69074	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.49	4.52	0.55395	.	0.177601	0.38663	N	0.001608	T	0.61248	0.2332	M	0.69358	2.11	0.34082	D	0.659716	D;D	0.67145	0.996;0.99	P;P	0.59424	0.817;0.857	T	0.74166	-0.3753	10	0.56958	D	0.05	-12.3261	12.457	0.55710	0.0:0.1679:0.8321:0.0	.	276;314	Q6UX73;G3V0F0	CP089_HUMAN;.	I	308;276;276;314;314;308	ENSP00000417158:L308I;ENSP00000420566:L276I;ENSP00000390402:L314I;ENSP00000283478:L314I	ENSP00000324672:L308I	L	-	1	0	C16orf89	5045290	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	2.266000	0.43320	1.273000	0.44346	0.557000	0.71058	CTC	C16orf89	-	NULL	ENSG00000153446		0.637	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1	-	0	97	0	G	NM_152459		5105289	-1	tier1	-	no_errors	ENST00000350219	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	5105289	G	T	5105289	3	4	145	1	0	0	0	0	1	0	0	0	1847	942	33	3	529	3	C16orf89	16	5105289	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	10888	5105289	85249464	200	36985											
RUNDC2A	92017	genome.wustl.edu	37	chr16	12136831	12136831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactccctgcgccacatcGcctcagacgtgggccggggt	5	8	12	16	4	2	1	1	0	1	1	4	1	3	1	4	3	2	0	4	3	1	1	rs200498279	byFrequency	TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:12136831G>T	ENST00000566228.1	+	5	394	c.325G>T	c.(325-327)Gcc>Tcc	p.A109S	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	109	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.A109S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GCGCCACATCGCCTCAGACGT	0.657																																																	1	Substitution - Missense(1)	kidney(1)											43	36	38					16																	12136831		2197	4300	6497	SO:0001583	missense	0			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.325G>T	16.37:g.12136831G>T	ENSP00000456480:p.Ala109Ser		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	pfam_Run,pfam_Phox,superfamily_Phox,smart_Run,smart_Phox,pfscan_Phox,pfscan_Run	p.A109S	ENST00000566228.1	37	c.325	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	G	8.219	0.801987	0.16397	.	.	ENSG00000140660	ENST00000268271	.	.	.	4.64	-1.3	0.09259	.	0.486656	0.20636	N	0.088489	T	0.07683	0.0193	N	0.00368	-1.59	0.80722	D	1	.	.	.	.	.	.	T	0.15694	-1.0428	7	0.10636	T	0.68	3.6012	2.7979	0.05406	0.4239:0.0:0.2267:0.3493	.	.	.	.	S	109	.	ENSP00000268271:A109S	A	+	1	0	RUNDC2A	12044332	0.534000	0.26362	0.792000	0.32020	0.953000	0.61014	0.807000	0.27140	-0.060000	0.13132	-0.521000	0.04368	GCC	SNX29	-	pfam_Run,pfscan_Run	ENSG00000048471		0.657	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1		0	94	0	G			12136831	1			no_errors	ENST00000566228	ensembl	human	putative	74_37	missense	5.56	51	3	SNP	0.946	T	T	12136831	G	T	12136831	3	4	145	1	0	0	0	0	1	0	0	0	13788	1087	38	2	343	2	RUNDC2A	16	12136831	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	7031542	12136831	78217922	201	36986											
OTOA	146183	genome.wustl.edu	37	chr16	21712311	21712311	+	Missense_Mutation	SNP	T	T	C	0	1	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	ttctggagaggatcagctccTccaactttaacatgaggaat	12	11	9	9	0	2	2	1	1	1	1	4	5	4	4	2	3	3	1	2	3	3	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:21712311T>C	ENST00000286149.4	+	10	944	c.943T>C	c.(943-945)Tcc>Ccc	p.S315P	OTOA_ENST00000388958.3_Missense_Mutation_p.S315P|OTOA_ENST00000388956.4_Missense_Mutation_p.S236P			Q7RTW8	OTOAN_HUMAN	otoancorin	315					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)		GATCAGCTCCTCCAACTTTAA	0.522																																																	0													90	78	82					16																	21712311		2199	4300	6499	SO:0001583	missense	0			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.943T>C	16.37:g.21712311T>C	ENSP00000286149:p.Ser315Pro		A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.S315P	ENST00000286149.4	37	c.943		16	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368439	0.82463	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	D;D;D	0.83506	-1.73;-1.73;-1.73	5.41	5.41	0.78517	.	0.065465	0.64402	D	0.000006	D	0.89632	0.6771	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90539	0.4501	10	0.72032	D	0.01	-20.0642	13.7046	0.62631	0.0:0.0:0.0:1.0	.	236;315	B3KWU3;E9PF51	.;.	P	315;315;236	ENSP00000373610:S315P;ENSP00000286149:S315P;ENSP00000373608:S236P	ENSP00000286149:S315P	S	+	1	0	OTOA	21619812	1.000000	0.71417	0.875000	0.34327	0.967000	0.64934	5.740000	0.68629	2.171000	0.68590	0.528000	0.53228	TCC	OTOA	-	NULL	ENSG00000155719		0.522	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	-	0	34	0	T			21712311	1	tier1	-	no_errors	ENST00000286149	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.993	C	C	21712311	T	C	21712311	3	2	145	1	0	0	0	0	1	0	0	0	11341	1551	54	4	1015	4	OTOA	16	21712311	Missense_Mutation	SNP	T	TCGA-R6-A6XQ-01B-11D-A33E-09	9575480	21712311	68642442	202	36987											
C16orf54	283897	genome.wustl.edu	37	chr16	29756002	29756002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccataccagtcctcagagcGctctcgggcggtgcccatgg	6	7	13	15	3	2	1	1	0	1	1	4	1	3	1	4	3	3	1	4	3	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:29756002G>A	ENST00000329410.3	-	2	366	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	91						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						TCCTCAGAGCGCTCTCGGGCG	0.701																																																	0													13	14	14					16																	29756002		2173	4279	6452	SO:0001583	missense	0			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.271C>T	16.37:g.29756002G>A	ENSP00000327506:p.Arg91Cys		A6NJR6|Q8NAB0	Missense_Mutation	SNP	NULL	p.R91C	ENST00000329410.3	37	c.271	CCDS10652.1	16	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202173	0.79127	.	.	ENSG00000185905	ENST00000329410	T	0.53640	0.61	5.09	5.09	0.68999	.	0.000000	0.41938	U	0.000796	T	0.57844	0.2081	L	0.32530	0.975	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	T	0.61287	-0.7093	10	0.87932	D	0	-14.362	13.998	0.64414	0.0:0.0:1.0:0.0	.	91	Q6UWD8	CP054_HUMAN	C	91	ENSP00000327506:R91C	ENSP00000327506:R91C	R	-	1	0	C16orf54	29663503	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	4.456000	0.60081	2.376000	0.81061	0.313000	0.20887	CGC	C16orf54	-	NULL	ENSG00000185905		0.701	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf54	HGNC	protein_coding	OTTHUMT00000255158.1	-	0	65	0	G	NM_175900		29756002	-1	tier1	-	no_errors	ENST00000329410	ensembl	human	known	74_37	missense	14.29	23	4	SNP	1.000	A	A	29756002	G	A	29756002	3	1	145	1	0	0	0	0	1	0	0	0	1824	1087	38	1	407	1	C16orf54	16	29756002	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	8043691	29756002	60598751	203	36988											
ITGAD	3681	genome.wustl.edu	37	chr16	31426281	31426281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacctgcgtcctgtgctggCcgtgggctcacaagacctct	6	9	12	14	2	2	1	1	0	1	1	3	2	3	1	4	2	3	2	4	2	2	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:31426281C>T	ENST00000389202.2	+	18	2301	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	751					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						CCTGTGCTGGCCGTGGGCTCA	0.537																																																	0													113	102	106					16																	31426281		2197	4300	6497	SO:0001583	missense	0			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.2252C>T	16.37:g.31426281C>T	ENSP00000373854:p.Ala751Val		Q15575|Q15576	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A751V	ENST00000389202.2	37	c.2252	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619430	0.46736	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.47177	0.85	5.03	2.91	0.33838	Integrin alpha-2 (1);	.	.	.	.	T	0.67720	0.2923	M	0.83118	2.625	0.28701	N	0.904059	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.60786	-0.7194	9	0.56958	D	0.05	.	10.2284	0.43241	0.3569:0.6431:0.0:0.0	.	767;751	Q59H14;Q13349	.;ITAD_HUMAN	V	767;751	ENSP00000373854:A751V	ENSP00000373854:A751V	A	+	2	0	ITGAD	31333782	0.027000	0.19231	0.792000	0.32020	0.201000	0.24016	-0.000000	0.12993	1.068000	0.40764	0.195000	0.17529	GCC	ITGAD	-	pfam_Integrin_alpha-2	ENSG00000156886		0.537	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	-	0	42	0	C	NM_005353		31426281	1	tier1	-	no_errors	ENST00000389202	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.718	T	T	31426281	C	T	31426281	3	4	145	1	0	0	0	0	1	0	0	0	7911	739	26	3	2322	3	ITGAD	16	31426281	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	1670279	31426281	58928472	204	36989											
NFAT5	10725	genome.wustl.edu	37	chr16	69703968	69703968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgtttttaatcggcaaGaactttctgaaaggaactaa	15	12	9	5	1	1	2	0	1	1	1	2	4	1	3	0	2	2	2	0	2	7	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:69703968G>T	ENST00000354436.2	+	7	1722	c.1404G>T	c.(1402-1404)aaG>aaT	p.K468N	NFAT5_ENST00000566899.1_Missense_Mutation_p.K392N|NFAT5_ENST00000393742.2_Missense_Mutation_p.K392N|NFAT5_ENST00000432919.1_Missense_Mutation_p.K486N|NFAT5_ENST00000567239.1_Missense_Mutation_p.K486N|NFAT5_ENST00000349945.1_Missense_Mutation_p.K392N	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	468					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						TAATCGGCAAGAACTTTCTGA	0.363																																																	0													60	61	61					16																	69703968		2198	4300	6498	SO:0001583	missense	0			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.1404G>T	16.37:g.69703968G>T	ENSP00000346420:p.Lys468Asn		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.K486N	ENST00000354436.2	37	c.1458	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484698	0.63962	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.18	0.331	0.15933	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50137	0.1598	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.85130	0.993;0.972;0.989;0.997	T	0.50866	-0.8777	10	0.72032	D	0.01	-3.6313	10.1722	0.42917	0.3842:0.0:0.6158:0.0	.	486;468;486;392	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	N	486;486;392;468;392	ENSP00000396538:K486N;ENSP00000338806:K392N;ENSP00000346420:K468N;ENSP00000377343:K392N	ENSP00000338806:K392N	K	+	3	2	NFAT5	68261469	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.731000	0.47343	0.186000	0.20125	-0.237000	0.12165	AAG	NFAT5	-	superfamily_Ig_E-set,smart_IPT,prints_NFAT	ENSG00000102908		0.363	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2		0	53	0	G	NM_138714		69703968	1			no_errors	ENST00000432919	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.999	T	T	69703968	G	T	69703968	3	4	145	1	0	0	0	0	1	0	0	0	10399	933	33	3	1488	3	NFAT5	16	69703968	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	38277687	69703968	20650785	205	36990											
ZFHX3	463	genome.wustl.edu	37	chr16	72984827	72984827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgacaccagctgcccGcccccgagccgcatgtctag	6	7	9	19	3	2	1	0	1	2	0	3	2	3	1	6	0	3	2	6	0	1	1	rs141768802	byFrequency	TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:72984827G>A	ENST00000268489.5	-	3	3429	c.2757C>T	c.(2755-2757)ggC>ggT	p.G919G	ZFHX3_ENST00000397992.5_Silent_p.G5G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	919					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCAGCTGCCCGCCCCCGAGCC	0.622																																																	0								G	,	1,4395	2.1+/-5.4	0,1,2197	49	47	48		15,2757	2	1	16	dbSNP_134	48	0,8600	1.2+/-3.3	0,0,4300	no	coding-synonymous,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	5/2790,919/3704	72984827	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2757C>T	16.37:g.72984827G>A			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.G919	ENST00000268489.5	37	c.2757	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.622	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0	64	0	G	NM_006885		72984827	-1	tier1	rs141768802	no_errors	ENST00000268489	ensembl	human	known	74_37	silent	44.44	15	12	SNP	1.000	A	A	72984827	G	A	72984827	2	1	145	1	0	0	0	0	0	0	0	1	17682	1074	38	1		1	ZFHX3	16	72984827	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3280859	72984827	17369926	206	36991											
WDR59	79726	genome.wustl.edu	37	chr16	74943462	74943462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcgtcctggtacgaccCgtaagccgtggtcacccgcg	5	8	14	14	6	1	0	1	0	0	0	2	1	2	0	4	3	2	3	4	3	2	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:74943462C>T	ENST00000262144.6	-	16	1709	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	527										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TGGTACGACCCGTAAGCCGTG	0.557																																																	0													84	89	87					16																	74943462		2198	4300	6498	SO:0001583	missense	0			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.1579G>A	16.37:g.74943462C>T	ENSP00000262144:p.Gly527Arg		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G527R	ENST00000262144.6	37	c.1579	CCDS32488.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272354	0.80580	.	.	ENSG00000103091	ENST00000262144	T	0.67345	-0.26	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75233	-0.3390	10	0.39692	T	0.17	-27.5587	20.1581	0.98126	0.0:1.0:0.0:0.0	.	527	Q6PJI9	WDR59_HUMAN	R	527	ENSP00000262144:G527R	ENSP00000262144:G527R	G	-	1	0	WDR59	73500963	1.000000	0.71417	0.988000	0.46212	0.016000	0.09150	7.052000	0.76634	2.937000	0.99478	0.650000	0.86243	GGG	WDR59	-	NULL	ENSG00000103091		0.557	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3	-	0	79	0	C	NM_030581		74943462	-1	tier1	-	no_errors	ENST00000262144	ensembl	human	known	74_37	missense	29.41	24	10	SNP	1.000	T	T	74943462	C	T	74943462	3	4	145	1	0	0	0	0	1	0	0	0	17357	652	23	1	1389	1	WDR59	16	74943462	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	1958635	74943462	15411291	207	36992											
CDYL2	124359	genome.wustl.edu	37	chr16	80646529	80646529	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggaggcttaccagcgcGacgcccaggatctgggggaa	10	4	15	12	3	1	0	0	0	1	0	1	4	1	3	2	5	2	1	2	5	2	1	rs148183173		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:80646529G>T	ENST00000570137.2	-	5	1367	c.1212C>A	c.(1210-1212)gtC>gtA	p.V404V	CDYL2_ENST00000562812.1_Silent_p.V405V|CDYL2_ENST00000563890.1_Silent_p.V405V|CDYL2_ENST00000566173.1_Silent_p.V405V	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	404						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TTACCAGCGCGACGCCCAGGA	0.622																																																	0													69	72	71					16																	80646529		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1212C>A	16.37:g.80646529G>T			Q7Z5I8	Silent	SNP	pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.V404	ENST00000570137.2	37	c.1212	CCDS32493.1	16																																																																																			CDYL2	-	pfam_Crotonase_core_superfam	ENSG00000166446		0.622	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDYL2	HGNC	protein_coding	OTTHUMT00000434727.2		0	86	0	G	NM_152342		80646529	-1			no_errors	ENST00000570137	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.958	T	T	80646529	G	T	80646529	2	4	145	1	0	0	0	0	0	0	0	1	3193	1045	37	2		2	CDYL2	16	80646529	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	5703067	80646529	9708224	208	36993											
WFDC1	58189	genome.wustl.edu	37	chr16	84360521	84360521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtggcagaacctggaaGgggacaacagaagcactttc	14	6	13	8	0	0	2	0	0	0	2	1	5	0	4	1	4	3	2	1	4	5	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:84360521G>T	ENST00000219454.5	+	6	964	c.638G>T	c.(637-639)aGg>aTg	p.R213M	WFDC1_ENST00000568638.1_Missense_Mutation_p.R213M	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	213					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GAACCTGGAAGGGGACAACAG	0.527																																																	0													135	122	126					16																	84360521		2200	4300	6500	SO:0001583	missense	0			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.638G>T	16.37:g.84360521G>T	ENSP00000219454:p.Arg213Met		D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core	p.R213M	ENST00000219454.5	37	c.638	CCDS10946.1	16	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650926	0.47362	.	.	ENSG00000103175	ENST00000219454	T	0.33438	1.41	3.46	-3.86	0.04230	.	0.295676	0.30667	N	0.009140	T	0.12902	0.0313	N	0.14661	0.345	0.09310	N	1	B	0.28512	0.214	B	0.25405	0.06	T	0.07927	-1.0747	10	0.87932	D	0	-2.9339	5.7013	0.17883	0.4612:0.1466:0.3922:0.0	.	213	Q9HC57	WFDC1_HUMAN	M	213	ENSP00000219454:R213M	ENSP00000219454:R213M	R	+	2	0	WFDC1	82918022	0.776000	0.28616	0.000000	0.03702	0.790000	0.44656	1.667000	0.37471	-0.889000	0.03950	0.453000	0.30009	AGG	WFDC1	-	NULL	ENSG00000103175		0.527	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC1	HGNC	protein_coding	OTTHUMT00000269083.2		0	47	0	G			84360521	1			no_errors	ENST00000219454	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.000	T	T	84360521	G	T	84360521	3	4	145	1	0	0	0	0	1	0	0	0	17395	1000	35	3	660	3	WFDC1	16	84360521	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3713992	84360521	5994232	209	36994											
JPH3	57338	genome.wustl.edu	37	chr16	87678031	87678031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcatcccgacgcctctccgGcggtggccggcagcccggcc	3	5	14	19	6	1	0	0	0	1	0	3	1	2	0	6	5	2	2	6	5	0	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:87678031G>A	ENST00000284262.2	+	2	792	c.550G>A	c.(550-552)Gcg>Acg	p.A184T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	184					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGCCTCTCCGGCGGTGGCCGG	0.692																																																	0													33	38	36					16																	87678031		2191	4294	6485	SO:0001583	missense	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.550G>A	16.37:g.87678031G>A	ENSP00000284262:p.Ala184Thr		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.A184T	ENST00000284262.2	37	c.550	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366560	0.24771	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.45668	0.89	5.03	4.07	0.47477	.	0.337477	0.31123	N	0.008204	T	0.16514	0.0397	N	0.02916	-0.46	0.43982	D	0.99667	B	0.09022	0.002	B	0.11329	0.006	T	0.06789	-1.0807	10	0.09843	T	0.71	.	8.6652	0.34116	0.1721:0.0:0.8279:0.0	.	184	Q8WXH2	JPH3_HUMAN	T	47;184	ENSP00000284262:A184T	ENSP00000284262:A184T	A	+	1	0	JPH3	86235532	1.000000	0.71417	0.101000	0.21167	0.542000	0.35054	6.205000	0.72148	1.115000	0.41800	0.462000	0.41574	GCG	JPH3	-	pirsf_Junctophilin	ENSG00000154118		0.692	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	-	0	64	0	G			87678031	1	tier1	-	no_errors	ENST00000284262	ensembl	human	known	74_37	missense	53.57	25	30	SNP	0.938	A	A	87678031	G	A	87678031	3	1	145	1	0	0	0	0	1	0	0	0	7989	1203	42	3	556	3	JPH3	16	87678031	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3317510	87678031	2676722	210	36995											
MC1R	4157	genome.wustl.edu	37	chr16	89986519	89986519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttcaacctctttctcGccctcatcatctgcaatgcc	9	12	4	16	1	6	1	3	0	3	1	7	1	6	1	3	0	4	1	3	0	3	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:89986519G>T	ENST00000555147.1	+	1	2233	c.853G>T	c.(853-855)Gcc>Tcc	p.A285S	MC1R_ENST00000555427.1_Missense_Mutation_p.A285S|TUBB3_ENST00000554444.1_5'Flank|TUBB3_ENST00000556922.1_Missense_Mutation_p.A285S|RP11-566K11.4_ENST00000554623.1_RNA|RP11-566K11.7_ENST00000570217.1_RNA	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	285					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCTCTTTCTCGCCCTCATCAT	0.597									Melanoma, Familial Clustering of																																								0													112	109	110					16																	89986519		2127	4256	6383	SO:0001583	missense	0	Familial Cancer Database			CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.853G>T	16.37:g.89986519G>T	ENSP00000451605:p.Ala285Ser		Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.A285S	ENST00000555147.1	37	c.853	CCDS56011.1	16	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864669	0.51482	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.72167	-0.63;-0.63;-0.63	5.27	-8.23	0.01033	GPCR, rhodopsin-like superfamily (1);	1.588320	0.04849	U	0.441987	T	0.65291	0.2677	L	0.58810	1.83	0.09310	N	1	B	0.20550	0.046	B	0.33750	0.169	T	0.55373	-0.8151	9	.	.	.	.	9.4686	0.38829	0.6234:0.1586:0.218:0.0	.	285	Q01726	MSHR_HUMAN	S	285	ENSP00000451760:A285S;ENSP00000451560:A285S;ENSP00000451605:A285S	.	A	+	1	0	MC1R;RP11-566K11.2	88514020	0.000000	0.05858	0.001000	0.08648	0.823000	0.46562	-0.190000	0.09615	-1.930000	0.01056	-0.252000	0.11476	GCC	MC1R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	ENSG00000258839		0.597	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	MC1R	HGNC	protein_coding	OTTHUMT00000412014.1		0	55	0	G	NM_002386		89986519	1			no_errors	ENST00000555147	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.003	T	T	89986519	G	T	89986519	3	4	145	1	0	0	0	0	1	0	0	0	9401	1087	38	2	855	2	MC1R	16	89986519	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	2308488	89986519	368234	211	36996											
PRDM7	11105	genome.wustl.edu	37	chr16	90128361	90128361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccactgttggctgcctcttCgtcttctgtaattcggccct	3	16	8	14	2	3	0	0	0	3	0	6	0	4	0	3	2	1	3	3	2	1	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr16:90128361C>T	ENST00000449207.2	-	7	869	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	PRDM7_ENST00000325921.6_Missense_Mutation_p.E78K|PRDM7_ENST00000407825.1_Missense_Mutation_p.E78K	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	284	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCTGCCTCTTCGTCTTCTGTA	0.537																																																	0													126	123	124					16																	90128361		2198	4300	6498	SO:0001583	missense	0			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.850G>A	16.37:g.90128361C>T	ENSP00000396732:p.Glu284Lys		A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_SET_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E284K	ENST00000449207.2	37	c.850	CCDS45557.1	16	.	.	.	.	.	.	.	.	.	.	.	3.508	-0.100466	0.06967	.	.	ENSG00000126856	ENST00000325921;ENST00000449207;ENST00000407825	T;T;T	0.72505	0.99;-0.66;0.99	2.62	-3.6	0.04570	SET domain (2);	.	.	.	.	T	0.58192	0.2105	M	0.67397	2.05	0.30624	N	0.758143	B;B;B	0.33198	0.401;0.013;0.006	B;B;B	0.23150	0.044;0.009;0.005	T	0.51655	-0.8678	8	.	.	.	-4.0398	6.9714	0.24650	0.0:0.5411:0.0:0.4589	.	78;284;78	Q9NQW5-1;Q9NQW5;Q9NQW5-2	.;PRDM7_HUMAN;.	K	78;284;78	ENSP00000315512:E78K;ENSP00000396732:E284K;ENSP00000385121:E78K	.	E	-	1	0	PRDM7	88655862	0.970000	0.33590	0.022000	0.16811	0.007000	0.05969	1.795000	0.38784	-0.440000	0.07211	-2.686000	0.00141	GAA	PRDM7	-	pfscan_SET_dom	ENSG00000126856		0.537	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM7	HGNC	protein_coding	OTTHUMT00000420560.1	-	0	63	0	C			90128361	-1	tier1	-	no_errors	ENST00000449207	ensembl	human	known	74_37	missense	18.75	26	6	SNP	0.376	T	T	90128361	C	T	90128361	3	4	145	1	0	0	0	0	1	0	0	0	12503	893	31	1	644	1	PRDM7	16	90128361	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	141842	90128361	226392	212	36997											
PITPNM3	83394	genome.wustl.edu	37	chr17	6386932	6386932	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagggaaatgggctcgtgtGaccttctccagcacggagct	8	8	14	11	2	1	1	0	1	1	0	3	3	1	3	2	3	2	4	2	3	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:6386932G>A	ENST00000262483.8	-	6	579	c.492C>T	c.(490-492)gtC>gtT	p.V164V	PITPNM3_ENST00000421306.3_Silent_p.V128V	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	164					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGGCTCGTGTGACCTTCTCCA	0.612																																																	0													150	100	117					17																	6386932		2203	4300	6503	SO:0001819	synonymous_variant	0			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.492C>T	17.37:g.6386932G>A			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.V164	ENST00000262483.8	37	c.492	CCDS11076.1	17																																																																																			PITPNM3	-	NULL	ENSG00000091622		0.612	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	-	0	86	0	G	NM_031220		6386932	-1	tier1	-	no_errors	ENST00000262483	ensembl	human	known	74_37	silent	23.33	46	14	SNP	1.000	A	A	6386932	G	A	6386932	2	1	145	1	0	0	0	0	0	0	0	1	11991	1277	45	3		3	PITPNM3	17	6386932	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		6386932	74808278	213	36998											
TEKT1	83659	genome.wustl.edu	37	chr17	6733588	6733588	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctggctttctgcgaccagGcgttctgatcgggacctttg	4	13	12	12	3	3	1	0	1	3	0	4	3	3	2	2	3	1	2	2	3	0	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:6733588G>T	ENST00000338694.2	-	2	237	c.108C>A	c.(106-108)cgC>cgA	p.R36R	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	36						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CTGCGACCAGGCGTTCTGATC	0.473																																																	0													98	93	95					17																	6733588		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.108C>A	17.37:g.6733588G>T			D3DTM7	Silent	SNP	pfam_Tektin,prints_Tektin	p.R36	ENST00000338694.2	37	c.108	CCDS11083.1	17																																																																																			TEKT1	-	pfam_Tektin	ENSG00000167858		0.473	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	-	0	40	0	G	NM_053285		6733588	-1	tier1	-	no_errors	ENST00000338694	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.998	T	T	6733588	G	T	6733588	2	4	145	1	0	0	0	0	0	0	0	1	15799	1190	42	3		3	TEKT1	17	6733588	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	346656	6733588	74461622	214	36999											
TP53	7157	genome.wustl.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	0	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	58	0	C	NM_000546		7577538	-1	tier1	rs11540652	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	93.55	2	29	SNP	1.000	T	T	7577538	C	T	7577538	3	4	145	1	0	0	0	0	1	0	0	0	16429	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	843950	7577538	73617672	215	37000											
DHRS7B	25979	genome.wustl.edu	37	chr17	21081549	21081549	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cttttctcttcccttagaatGtgcaaaagtcttctatgctg	8	17	6	10	0	3	1	0	0	3	1	5	1	4	1	1	0	2	2	1	0	5	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:21081549G>T	ENST00000395511.3	+	3	523	c.203G>T	c.(202-204)tGt>tTt	p.C68F	DHRS7B_ENST00000579303.1_Missense_Mutation_p.C53F	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	68						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CCCTTAGAATGTGCAAAAGTC	0.512																																																	0													119	110	113					17																	21081549		2203	4300	6503	SO:0001583	missense	0			BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	24547	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 1"					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.203G>T	17.37:g.21081549G>T	ENSP00000378887:p.Cys68Phe		B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.C68F	ENST00000395511.3	37	c.203	CCDS11215.1	17	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217685	0.79352	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	D	0.87103	-2.21	5.38	5.38	0.77491	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87541	0.6203	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90047	0.4146	10	0.56958	D	0.05	.	19.489	0.95042	0.0:0.0:1.0:0.0	.	68	Q6IAN0	DRS7B_HUMAN	F	68	ENSP00000378887:C68F	ENSP00000320352:C68F	C	+	2	0	DHRS7B	21022141	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	7.864000	0.87037	2.684000	0.91462	0.555000	0.69702	TGT	DHRS7B	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	ENSG00000109016		0.512	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHRS7B	HGNC	protein_coding	OTTHUMT00000444066.3	-	0	75	0	G	NM_015510		21081549	1	tier1	-	no_errors	ENST00000395511	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	21081549	G	T	21081549	3	4	145	1	0	0	0	0	1	0	0	0	4510	1377	48	3	213	3	DHRS7B	17	21081549	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	13504011	21081549	60113661	216	37001											
PIGS	94005	genome.wustl.edu	37	chr17	26898142	26898142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgtggtcttccaccagagCggtagccccagcacgatggc	7	7	12	15	3	1	1	0	0	1	1	3	2	3	1	5	3	3	2	5	3	1	2	rs144271516		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:26898142C>T	ENST00000308360.7	-	2	474	c.99G>A	c.(97-99)ccG>ccA	p.P33P	PIGS_ENST00000543734.1_Intron|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000395346.2_Silent_p.P25P	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	33					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)					TCCACCAGAGCGGTAGCCCCA	0.662																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	39	44	42		99	-9.6	0.7	17	dbSNP_134	42	0,8600		0,0,4300	no	coding-synonymous	PIGS	NM_033198.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		33/556	26898142	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				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.99G>A	17.37:g.26898142C>T			Q6UVX6	Silent	SNP	pfam_PtdIno-glycan_biosynth_class_S	p.P33	ENST00000308360.7	37	c.99	CCDS11235.1	17																																																																																			PIGS	-	pfam_PtdIno-glycan_biosynth_class_S	ENSG00000087111		0.662	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGS	HGNC	protein_coding	OTTHUMT00000255833.3		0	100	0	C	NM_033198		26898142	-1			no_errors	ENST00000308360	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.077	T	T	26898142	C	T	26898142	2	4	145	1	0	0	0	0	0	0	0	1	11937	755	27	1		1	PIGS	17	26898142	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	5816593	26898142	54297068	217	37002											
MYO18A	399687	genome.wustl.edu	37	chr17	27423864	27423864	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagctcagccgtcagtcGctggcacttcttcttgagct	5	13	10	13	2	4	1	2	1	2	0	5	1	4	1	1	1	4	5	1	1	0	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:27423864G>T	ENST00000527372.1	-	28	4480	c.4300C>A	c.(4300-4302)Cga>Aga	p.R1434R	MYO18A_ENST00000354329.4_Silent_p.R1434R|MYO18A_ENST00000533112.1_Silent_p.R1434R|MYO18A_ENST00000531253.1_Silent_p.R1434R	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)			GCCGTCAGTCGCTGGCACTTC	0.617																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0													27	30	29					17																	27423864		2132	4272	6404	SO:0001819	synonymous_variant	0			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.4300C>A	17.37:g.27423864G>T			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.R1434	ENST00000527372.1	37	c.4300	CCDS45642.1	17																																																																																			MYO18A	-	pfam_Myosin_tail	ENSG00000196535		0.617	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1		0	37	0	G	NM_078471		27423864	-1			no_errors	ENST00000354329	ensembl	human	known	74_37	silent	7.14	26	2	SNP	1.000	T	T	27423864	G	T	27423864	2	4	145	1	0	0	0	0	0	0	0	1	10103	1095	38	2		2	MYO18A	17	27423864	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	525722	27423864	53771346	218	37003											
ATAD5	79915	genome.wustl.edu	37	chr17	29214209	29214209	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttctctctctgttttgaaGctaaatgttgccagctacct	8	17	6	10	0	2	1	0	1	2	0	4	1	2	1	2	0	4	4	2	0	4	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:29214209G>T	ENST00000321990.4	+	19	4455		c.e19-1			NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5						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)				CTGTTTTGAAGCTAAATGTTG	0.308																																																	0													84	79	80					17																	29214209		2203	4299	6502	SO:0001630	splice_region_variant	0				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.4078-1G>T	17.37:g.29214209G>T			Q05DH0|Q69YR6|Q9H9I1	Splice_Site	SNP	-	e19-1	ENST00000321990.4	37	c.4078-1	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238335	0.79800	.	.	ENSG00000176208	ENST00000321990	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7972	0.96491	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATAD5	26238335	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.597000	0.82733	2.685000	0.91497	0.454000	0.30748	.	ATAD5	-	-	ENSG00000176208		0.308	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2		0	62	0	G	NM_024857	Intron	29214209	1			no_errors	ENST00000321990	ensembl	human	known	74_37	splice_site	8.33	33	3	SNP	1.000	T	T	29214209	G	T	29214209	5	4	145	1	0	0	0	0	0	0	1	0	1077	985	34	3	4151	3	ATAD5	17	29214209	Splice_Site	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1790345	29214209	51981001	219	37004											
C17orf75	64149	genome.wustl.edu	37	chr17	30661542	30661542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgatgaccacagacttatGctgctcctctgtcatggcca	9	11	8	13	1	2	2	1	1	1	1	4	3	3	2	3	1	2	2	3	1	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:30661542G>T	ENST00000577809.1	-	8	866	c.817C>A	c.(817-819)Cat>Aat	p.H273N	C17orf75_ENST00000225805.4_Missense_Mutation_p.H273N|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	273										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAGACTTATGCTGCTCCTCT	0.512																																																	0													70	70	70					17																	30661542		2119	4251	6370	SO:0001583	missense	0			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.817C>A	17.37:g.30661542G>T	ENSP00000464275:p.His273Asn		Q7Z2H4	Missense_Mutation	SNP	NULL	p.H273N	ENST00000577809.1	37	c.817	CCDS58537.1	17	.	.	.	.	.	.	.	.	.	.	G	6.488	0.458244	0.12342	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.95	4.98	0.66077	.	0.341267	0.38605	N	0.001629	T	0.49795	0.1578	L	0.56769	1.78	0.29113	N	0.88072	B	0.22211	0.066	B	0.21151	0.033	T	0.43972	-0.9358	9	0.22109	T	0.4	-8.4565	16.3048	0.82843	0.0:0.1323:0.8677:0.0	.	273	Q9HAS0	NJMU_HUMAN	N	273	.	ENSP00000225805:H273N	H	-	1	0	C17orf75	27685655	1.000000	0.71417	0.019000	0.16419	0.000000	0.00434	7.843000	0.86859	1.507000	0.48752	-0.176000	0.13171	CAT	C17orf75	-	NULL	ENSG00000108666		0.512	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	C17orf75	HGNC	protein_coding	OTTHUMT00000447204.1	-	0	42	0	G	NM_022344		30661542	-1	tier1	-	no_errors	ENST00000225805	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.448	T	T	30661542	G	T	30661542	3	4	145	1	0	0	0	0	1	0	0	0	1886	1319	46	3	385	3	C17orf75	17	30661542	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1447333	30661542	50533668	220	37005											
UBTF	7343	genome.wustl.edu	37	chr17	42284616	42284616	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggctgagcctcagttGgagtcagagtctgaggagtc	7	9	18	7	0	3	3	2	2	1	1	4	5	3	5	1	5	1	2	1	5	0	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:42284616G>T	ENST00000302904.4	-	21	2781	c.2289C>A	c.(2287-2289)tcC>tcA	p.S763S	UBTF_ENST00000527034.1_Missense_Mutation_p.P725Q|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Silent_p.S763S|UBTF_ENST00000526094.1_Silent_p.S726S|UBTF_ENST00000393606.3_Silent_p.S726S|UBTF_ENST00000533177.1_Silent_p.S726S|UBTF_ENST00000343638.5_Silent_p.S726S|UBTF_ENST00000436088.1_Silent_p.S763S			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	763	Asp/Glu/Ser-rich (acidic).				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)		AGCCTCAGTTGGAGTCAGAGT	0.607																																																	0													65	51	56					17																	42284616		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2289C>A	17.37:g.42284616G>T			A8K6R8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P725Q	ENST00000302904.4	37	c.2174	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545523	0.45280	.	.	ENSG00000108312	ENST00000527034	D	0.98717	-5.09	5.4	5.4	0.78164	.	.	.	.	.	D	0.98754	0.9581	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.98789	1.0735	6	0.87932	D	0	-14.6699	13.9264	0.63966	0.0:0.1523:0.8477:0.0	.	.	.	.	Q	725	ENSP00000431539:P725Q	ENSP00000431539:P725Q	P	-	2	0	UBTF	39640142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.174000	0.31932	2.813000	0.96785	0.561000	0.74099	CCA	UBTF	-	NULL	ENSG00000108312		0.607	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	-	0	89	0	G	NM_014233		42284616	-1	tier1	-	no_errors	ENST00000527034	ensembl	human	novel	74_37	missense	7.14	52	4	SNP	1.000	T	T	42284616	G	T	42284616	2	4	145	1	0	0	0	0	0	0	0	1	16958	1335	47	3		3	UBTF	17	42284616	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	11623074	42284616	38910594	221	37006											
FAM117A	81558	genome.wustl.edu	37	chr17	47794910	47794910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatgccagctcctcggcgGcaccccgatgttcctcatga	6	9	11	15	3	1	1	1	1	0	0	4	3	3	2	5	3	2	3	5	3	0	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:47794910G>A	ENST00000240364.2	-	6	954	c.875C>T	c.(874-876)gCc>gTc	p.A292V	FAM117A_ENST00000513602.1_Missense_Mutation_p.A20V|RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'Flank	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	292										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CTCCTCGGCGGCACCCCGATG	0.627																																																	0													38	35	36					17																	47794910		2190	4285	6475	SO:0001583	missense	0			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"C/EBP induced protein"					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.875C>T	17.37:g.47794910G>A	ENSP00000240364:p.Ala292Val		B7Z7Q3	Missense_Mutation	SNP	NULL	p.A292V	ENST00000240364.2	37	c.875	CCDS11553.1	17	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453685	0.26161	.	.	ENSG00000121104	ENST00000240364;ENST00000511743	.	.	.	5.2	3.14	0.36123	.	0.469078	0.20231	N	0.096480	T	0.14700	0.0355	N	0.03608	-0.345	0.09310	N	1	B	0.19583	0.037	B	0.19148	0.024	T	0.11036	-1.0604	9	0.38643	T	0.18	-27.5635	5.7251	0.18008	0.1572:0.1733:0.6695:0.0	.	292	Q9C073	F117A_HUMAN	V	292;182	.	ENSP00000240364:A292V	A	-	2	0	FAM117A	45149909	0.131000	0.22433	0.031000	0.17742	0.638000	0.38207	1.832000	0.39151	1.385000	0.46445	0.655000	0.94253	GCC	FAM117A	-	NULL	ENSG00000121104		0.627	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117A	HGNC	protein_coding	OTTHUMT00000365736.1	-	0	47	0	G	NM_030802		47794910	-1	tier1	-	no_errors	ENST00000240364	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.091	A	A	47794910	G	A	47794910	3	1	145	1	0	0	0	0	1	0	0	0	5428	1203	42	3	498	3	FAM117A	17	47794910	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	5510294	47794910	33400300	222	37007											
MYST2	11143	genome.wustl.edu	37	chr17	47893244	47893244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgacttggatcttttccGaagagcacaagcccgggctt	9	11	11	10	2	1	2	0	1	1	1	2	4	2	3	2	2	2	3	2	2	3	5			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:47893244G>T	ENST00000259021.4	+	8	1212	c.932G>T	c.(931-933)cGa>cTa	p.R311L	KAT7_ENST00000509773.1_Missense_Mutation_p.R201L|KAT7_ENST00000510819.1_Missense_Mutation_p.R142L|KAT7_ENST00000435742.2_Missense_Mutation_p.R125L|KAT7_ENST00000424009.2_Missense_Mutation_p.R281L|KAT7_ENST00000454930.2_Missense_Mutation_p.R172L|KAT7_ENST00000503935.2_Missense_Mutation_p.R155L|KAT7_ENST00000513980.1_3'UTR	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	311					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)										GATCTTTTCCGAAGAGCACAA	0.458																																																	0													78	78	78					17																	47893244		2203	4300	6503	SO:0001583	missense	0			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.932G>T	17.37:g.47893244G>T	ENSP00000259021:p.Arg311Leu		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase	p.R311L	ENST00000259021.4	37	c.932	CCDS11554.1	17	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383825	0.82792	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	M	0.65677	2.01	0.80722	D	1	D;B;P;P;D;D	0.64830	0.986;0.229;0.885;0.944;0.994;0.99	P;B;B;P;P;P	0.52856	0.599;0.055;0.445;0.554;0.698;0.711	T	0.74417	-0.3672	9	0.56958	D	0.05	-7.704	18.8697	0.92308	0.0:0.0:1.0:0.0	.	274;142;201;172;311;281	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	L	311;172;201;142;281;155;125	.	ENSP00000259021:R311L	R	+	2	0	KAT7	45248243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.750000	0.91623	2.788000	0.95919	0.650000	0.86243	CGA	KAT7	-	NULL	ENSG00000136504		0.458	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT7	HGNC	protein_coding	OTTHUMT00000366032.1		0	39	0	G	NM_007067		47893244	1			no_errors	ENST00000259021	ensembl	human	known	74_37	missense	16.67	10	2	SNP	1.000	T	T	47893244	G	T	47893244	3	4	145	1	0	0	0	0	1	0	0	0	10141	1058	37	2	962	2	MYST2	17	47893244	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	98334	47893244	33301966	223	37008											
SPAG9	9043	genome.wustl.edu	37	chr17	49059942	49059942	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttcctatagccacaccaGactttgtcatgtaccacagt	10	13	6	12	0	1	1	1	0	0	1	2	1	2	1	4	0	2	2	4	0	3	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:49059942G>A	ENST00000262013.7	-	25	3388	c.3180C>T	c.(3178-3180)gtC>gtT	p.V1060V	SPAG9_ENST00000357122.4_Silent_p.V1046V|SPAG9_ENST00000505279.1_Silent_p.V1050V|SPAG9_ENST00000510283.1_Silent_p.V903V	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1060					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)			AGCCACACCAGACTTTGTCAT	0.403																																																	0													162	149	154					17																	49059942		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3180C>T	17.37:g.49059942G>A			A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.V1060	ENST00000262013.7	37	c.3180	CCDS45740.1	17																																																																																			SPAG9	-	superfamily_WD40_repeat_dom	ENSG00000008294		0.403	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	-	0	50	0	G	NM_003971		49059942	-1	tier1	-	no_errors	ENST00000262013	ensembl	human	known	74_37	silent	45.45	12	10	SNP	1.000	A	A	49059942	G	A	49059942	2	1	145	1	0	0	0	0	0	0	0	1	15032	929	33	3		3	SPAG9	17	49059942	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	1166698	49059942	32135268	224	37009											
ACE	1636	genome.wustl.edu	37	chr17	61564014	61564014	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaacaccactatcaagCggatcataaagaaggttcag	16	7	9	9	1	3	2	3	0	0	2	3	3	3	3	1	2	3	2	1	2	6	3	rs200649158	byFrequency	TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:61564014C>A	ENST00000290866.4	+	14	2179	c.2155C>A	c.(2155-2157)Cgg>Agg	p.R719R	ACE_ENST00000290863.6_Silent_p.R145R|ACE_ENST00000490216.2_Silent_p.R145R|ACE_ENST00000421982.2_Silent_p.R29R|ACE_ENST00000428043.1_Silent_p.R719R|ACE_ENST00000577647.1_Silent_p.R145R|ACE_ENST00000413513.3_Silent_p.R145R	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	719	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)	CACTATCAAGCGGATCATAAA	0.547																																																	0													103	87	92					17																	61564014		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2155C>A	17.37:g.61564014C>A			B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.R719	ENST00000290866.4	37	c.2155	CCDS11637.1	17																																																																																			ACE	-	pfam_Peptidase_M2	ENSG00000159640		0.547	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2		0	75	0	C			61564014	1			no_errors	ENST00000290866	ensembl	human	known	74_37	silent	5.13	74	4	SNP	1.000	A	A	61564014	C	A	61564014	2	1	145	1	0	0	0	0	0	0	0	1	136	759	27	2		2	ACE	17	61564014	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	12504072	61564014	19631196	225	37010											
ARSG	22901	genome.wustl.edu	37	chr17	66303711	66303711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatcctcttgtggatttttGcatcagtgggaaaacaagag	11	14	10	6	0	2	1	1	0	1	1	3	3	3	3	1	2	2	1	1	2	4	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:66303711G>T	ENST00000448504.2	+	2	873	c.77G>T	c.(76-78)tGc>tTc	p.C26F	ARSG_ENST00000452479.2_Intron	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	26					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)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTGGATTTTTGCATCAGTGGG	0.468																																																	0													104	110	108					17																	66303711		2203	4300	6503	SO:0001583	missense	0			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.77G>T	17.37:g.66303711G>T	ENSP00000407193:p.Cys26Phe		Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.C26F	ENST00000448504.2	37	c.77	CCDS11676.1	17	.	.	.	.	.	.	.	.	.	.	G	6.767	0.510327	0.12883	.	.	ENSG00000141337	ENST00000452479	.	.	.	5.33	-3.47	0.04753	.	1.117560	0.06506	N	0.737093	T	0.21267	0.0512	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.11329	0.006	T	0.24764	-1.0151	9	0.09590	T	0.72	.	6.1566	0.20340	0.3884:0.228:0.3836:0.0	.	26	Q96EG1	ARSG_HUMAN	F	26	.	ENSP00000413953:C26F	C	+	2	0	ARSG	63815306	0.000000	0.05858	0.001000	0.08648	0.789000	0.44602	-0.738000	0.04871	-0.384000	0.07845	0.563000	0.77884	TGC	ARSG	-	NULL	ENSG00000141337		0.468	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSG	HGNC	protein_coding	OTTHUMT00000448369.1		0	82	0	G	NM_014960		66303711	1			no_errors	ENST00000448504	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	T	T	66303711	G	T	66303711	3	4	145	1	0	0	0	0	1	0	0	0	993	1319	46	3	79	3	ARSG	17	66303711	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	4739697	66303711	14891499	226	37011											
SLC38A10	124565	genome.wustl.edu	37	chr17	79225168	79225168	+	Intron	SNP	C	C	T	0	0	0	1	1	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	cgaggggtctgctcagcaggCggctggaaagagaagggggg	9	4	21	7	2	2	1	1	0	1	1	2	4	2	2	0	8	2	3	0	8	2	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr17:79225168C>T	ENST00000374759.3	-	14	2449				SLC38A10_ENST00000288439.5_Silent_p.P730P	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)				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)			GCTCAGCAGGCGGCTGGAAAG	0.637																																																	0													18	26	23					17																	79225168		2191	4290	6481	SO:0001627	intron_variant	0			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+124G>A	17.37:g.79225168C>T			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	pfam_AA_transpt_TM	p.P730	ENST00000374759.3	37	c.2190	CCDS42397.1	17																																																																																			SLC38A10	-	NULL	ENSG00000157637		0.637	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1		0	64	0	C	NM_138570		79225168	-1			no_errors	ENST00000288439	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.000	T	T	79225168	C	T	79225168	1	4	145	0	1	0	0	0	0	0	0	0	14647	755	27	1		1	SLC38A10	17	79225168	Intron	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	12921457	79225168	1970042	227	37012											
DCC	1630	genome.wustl.edu	37	chr18	50866153	50866153	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aactgcatcatcatgagttgGactcctcccttgaacccaaa	12	10	6	13	0	2	2	2	2	0	0	4	3	4	3	3	1	3	2	3	1	3	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr18:50866153G>A	ENST00000442544.2	+	15	2851	c.2235G>A	c.(2233-2235)tgG>tgA	p.W745*	DCC_ENST00000581580.1_Nonsense_Mutation_p.W400*|DCC_ENST00000412726.1_Nonsense_Mutation_p.W593*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	745	Fibronectin type-III 4. {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)		TCATGAGTTGGACTCCTCCCT	0.493																																																	0													241	199	213					18																	50866153		2203	4300	6503	SO:0001587	stop_gained	0			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.2235G>A	18.37:g.50866153G>A	ENSP00000389140:p.Trp745*			Nonsense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W745*	ENST00000442544.2	37	c.2235	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	40	8.392058	0.98791	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7948	0.88566	0.0:0.0:1.0:0.0	.	.	.	.	X	745;678;593	.	ENSP00000304146:W678X	W	+	3	0	DCC	49120151	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.504000	0.97986	2.565000	0.86533	0.655000	0.94253	TGG	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.493	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	44	0	G	NM_005215		50866153	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	nonsense	45.45	6	5	SNP	1.000	A	A	50866153	G	A	50866153	4	1	145	1	0	0	0	0	0	1	0	0	4291	1183	41	3	2293	3	DCC	18	50866153	Nonsense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		50866153	27211095	228	37013											
GTF2F1	2962	genome.wustl.edu	37	chr19	6381410	6381412	+	In_Frame_Del	DEL	CTC	CTC	-																															tgcggggtgggtgccttcttCtcctcctcctcctccttgtc																										TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr19:6381410_6381412delCTC	ENST00000394456.5	-	9	1440_1442	c.976_978delGAG	c.(976-978)gagdel	p.E326del	GTF2F1_ENST00000429701.2_In_Frame_Del_p.E241del|PSPN_ENST00000597721.1_5'Flank	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	326	Glu-rich.				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						GTGccttcttctcctcctcctcc	0.64																																																	0										17,4245		1,15,2115						3.9	1			48	27,8225		1,25,4100	no	coding	GTF2F1	NM_002096.2		2,40,6215	A1A1,A1R,RR		0.3272,0.3989,0.3516				44,12470				SO:0001651	inframe_deletion	0				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.976_978delGAG	19.37:g.6381419_6381421delCTC	ENSP00000377969:p.Glu326del		B2RCS0|Q9BWN0	In_Frame_Del	DEL	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	p.E326in_frame_del	ENST00000394456.5	37	c.978_976	CCDS12165.1	19																																																																																			GTF2F1	-	pfam_TFIIF-alpha	ENSG00000125651		0.64	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F1	HGNC	protein_coding	OTTHUMT00000398033.1		0	34	0	CTC	NM_002096		6381412	-1	tier1		no_errors	ENST00000394456	ensembl	human	known	74_37	in_frame_del	5.88	32	2	DEL	1.000:1.000:1.000	-	-	6381412	CTC	-	6381410	7	5	145	1	0	1	0	1	0	0	0	0	6885	912	32	0	595	0	GTF2F1	19	6381410	In_Frame_Del	DEL	CTC	TCGA-R6-A6XQ-01B-11D-A33E-09		6381410	52747573	229	37014											
CCDC130	81576	genome.wustl.edu	37	chr19	13869785	13869785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcccagcgcaaggaggagCgctgggacatggcggacaat	10	3	17	11	4	0	0	0	0	0	0	0	4	0	4	1	5	2	2	1	5	2	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr19:13869785C>T	ENST00000586600.1	+	8	864	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	CCDC130_ENST00000221554.8_Missense_Mutation_p.R121C			P13994	CC130_HUMAN	coiled-coil domain containing 130	121					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CAAGGAGGAGCGCTGGGACAT	0.647																																																	0													42	38	39					19																	13869785		2203	4300	6503	SO:0001583	missense	0			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.361C>T	19.37:g.13869785C>T	ENSP00000465776:p.Arg121Cys		Q9BQ72	Missense_Mutation	SNP	pfam_CWC16	p.R121C	ENST00000586600.1	37	c.361	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415228	0.83449	.	.	ENSG00000104957	ENST00000540216;ENST00000221554	T	0.32988	1.43	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.61185	0.2327	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.959;0.996	T	0.66408	-0.5931	10	0.56958	D	0.05	-29.2001	15.9545	0.79876	0.0:1.0:0.0:0.0	.	121;121	B7Z1U2;P13994	.;CC130_HUMAN	C	121	ENSP00000221554:R121C	ENSP00000221554:R121C	R	+	1	0	CCDC130	13730785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.921000	0.63397	2.645000	0.89757	0.561000	0.74099	CGC	CCDC130	-	pfam_CWC16	ENSG00000104957		0.647	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	CCDC130	HGNC	protein_coding	OTTHUMT00000453216.2	-	0	66	0	C	NM_030818		13869785	1	tier1	-	no_errors	ENST00000221554	ensembl	human	known	74_37	missense	86.11	5	31	SNP	1.000	T	T	13869785	C	T	13869785	3	4	145	1	0	0	0	0	1	0	0	0	2773	768	27	1	383	1	CCDC130	19	13869785	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	7488375	13869785	45259198	230	37015											
PRKACA	5566	genome.wustl.edu	37	chr19	14208613	14208613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaatgagcagattctccGgcttcaggtccctgtagatg	8	11	12	10	1	3	3	2	1	1	2	5	3	4	3	2	3	1	3	2	3	2	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr19:14208613G>T	ENST00000308677.4	-	6	705	c.509C>A	c.(508-510)cCg>cAg	p.P170Q	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Missense_Mutation_p.P162Q	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CAGATTCTCCGGCTTCAGGTC	0.627																																																	0													78	77	77					19																	14208613		2203	4300	6503	SO:0001583	missense	0				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.509C>A	19.37:g.14208613G>T	ENSP00000309591:p.Pro170Gln		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P170Q	ENST00000308677.4	37	c.509	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357258	0.82243	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.16597	2.33	4.61	4.61	0.57282	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	0.43747	D	0.000537	T	0.50326	0.1609	M	0.91717	3.235	0.58432	D	0.999999	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	0.63229	-0.6684	10	0.87932	D	0	.	14.943	0.71009	0.0:0.0:1.0:0.0	.	112;153;170;162	B7Z708;Q15136;P17612;P17612-2	.;.;KAPCA_HUMAN;.	Q	170;162;170;112	ENSP00000309591:P170Q	ENSP00000309591:P170Q	P	-	2	0	PRKACA	14069613	1.000000	0.71417	0.944000	0.38274	0.865000	0.49528	9.649000	0.98487	2.121000	0.65114	0.579000	0.79373	CCG	PRKACA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000072062		0.627	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	HGNC	protein_coding	OTTHUMT00000459004.1		0	62	0	G	NM_002730		14208613	-1			no_errors	ENST00000308677	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.999	T	T	14208613	G	T	14208613	3	4	145	1	0	0	0	0	1	0	0	0	12539	1116	39	2	566	2	PRKACA	19	14208613	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	338828	14208613	44920370	231	37016											
MYO9B	4650	genome.wustl.edu	37	chr19	17278782	17278782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagggcgaggggatcacgtgGcacaacatcggctacacaga	12	4	14	11	3	1	1	1	0	0	1	2	3	1	2	0	5	2	2	0	5	2	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr19:17278782G>T	ENST00000594824.1	+	11	1848	c.1701G>T	c.(1699-1701)tgG>tgT	p.W567C	MYO9B_ENST00000397274.2_Missense_Mutation_p.W567C|MYO9B_ENST00000595618.1_Missense_Mutation_p.W567C|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	567	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						GGATCACGTGGCACAACATCG	0.517																																																	0													38	46	43					19																	17278782		2080	4203	6283	SO:0001583	missense	0				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.1701G>T	19.37:g.17278782G>T	ENSP00000471367:p.Trp567Cys		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.W567C	ENST00000594824.1	37	c.1701		19	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254819	0.80135	.	.	ENSG00000099331	ENST00000397274	D	0.89810	-2.57	4.85	4.85	0.62838	Myosin head, motor domain (2);	0.000000	0.52532	D	0.000061	D	0.96084	0.8724	H	0.94264	3.515	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	0.97411	1.0002	10	0.87932	D	0	.	16.9722	0.86303	0.0:0.0:1.0:0.0	.	567;567;573	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	C	567	ENSP00000380444:W567C	ENSP00000380444:W567C	W	+	3	0	MYO9B	17139782	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.685000	0.98661	2.243000	0.73865	0.561000	0.74099	TGG	MYO9B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000099331		0.517	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1		0	65	0	G			17278782	1			no_errors	ENST00000594824	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	17278782	G	T	17278782	3	4	145	1	0	0	0	0	1	0	0	0	10123	1212	42	3	1739	3	MYO9B	19	17278782	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3070169	17278782	41850201	232	37017											
C19orf62	29086	genome.wustl.edu	37	chr19	17389663	17389663	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctccccggcaggatatgtttGccttcatgggcagcctggat	6	11	12	12	1	1	0	1	0	0	0	2	2	2	2	4	4	2	3	4	4	1	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr19:17389663G>T	ENST00000359435.4	+	9	989	c.796G>T	c.(796-798)Gcc>Tcc	p.A266S	BABAM1_ENST00000595632.1_Missense_Mutation_p.A191S|BABAM1_ENST00000601043.1_Missense_Mutation_p.A266S|BABAM1_ENST00000447614.2_Missense_Mutation_p.A266S|CTD-2278I10.6_ENST00000596542.1_Intron|ANKLE1_ENST00000433424.2_5'Flank|BABAM1_ENST00000598188.1_Missense_Mutation_p.A266S|ANKLE1_ENST00000394458.3_5'Flank|ANKLE1_ENST00000404085.1_5'Flank	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	266	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						GGATATGTTTGCCTTCATGGG	0.582																																																	0													32	33	33					19																	17389663		1968	4125	6093	SO:0001583	missense	0			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.796G>T	19.37:g.17389663G>T	ENSP00000352408:p.Ala266Ser		A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Missense_Mutation	SNP	NULL	p.A266S	ENST00000359435.4	37	c.796	CCDS46012.1	19	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289419	0.23478	.	.	ENSG00000105393	ENST00000359435;ENST00000447614	.	.	.	5.06	4.03	0.46877	.	.	.	.	.	T	0.37999	0.1024	L	0.28115	0.83	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.12630	-1.0540	8	0.11794	T	0.64	-7.0268	7.6435	0.28307	0.1868:0.0:0.8132:0.0	.	266	Q9NWV8	BABA1_HUMAN	S	266	.	ENSP00000352408:A266S	A	+	1	0	BABAM1	17250663	0.363000	0.24989	1.000000	0.80357	0.957000	0.61999	0.211000	0.17474	1.364000	0.46038	0.655000	0.94253	GCC	BABAM1	-	NULL	ENSG00000105393		0.582	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	BABAM1	HGNC	protein_coding	OTTHUMT00000463471.1	-	0	67	0	G	NM_014173		17389663	1	tier1	-	no_errors	ENST00000359435	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.997	T	T	17389663	G	T	17389663	3	4	145	1	0	0	0	0	1	0	0	0	1951	1319	46	3	826	3	C19orf62	19	17389663	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	110881	17389663	41739320	233	37018											
UNC13A	23025	genome.wustl.edu	37	chr19	17760330	17760330	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttaccaagtcgctcacGagtgggataggtttcctctt	7	13	11	10	2	2	0	1	0	1	0	4	2	3	1	2	2	2	3	2	2	3	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr19:17760330G>T	ENST00000519716.2	-	13	1505	c.1506C>A	c.(1504-1506)ctC>ctA	p.L502L	UNC13A_ENST00000428389.2_Silent_p.L590L|UNC13A_ENST00000551649.1_Silent_p.L502L|UNC13A_ENST00000552293.1_Silent_p.L502L|UNC13A_ENST00000550896.1_Silent_p.L502L|UNC13A_ENST00000252773.7_Silent_p.L502L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	502					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						AGTCGCTCACGAGTGGGATAG	0.577																																																	0													158	161	160					19																	17760330		2116	4234	6350	SO:0001819	synonymous_variant	0			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.1506C>A	19.37:g.17760330G>T			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L590	ENST00000519716.2	37	c.1770	CCDS46013.2	19																																																																																			UNC13A	-	NULL	ENSG00000130477		0.577	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2		0	72	0	G	XM_038604		17760330	-1			no_errors	ENST00000428389	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.990	T	T	17760330	G	T	17760330	2	4	145	1	0	0	0	0	0	0	0	1	17033	1045	37	2		2	UNC13A	19	17760330	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	370667	17760330	41368653	234	37019											
CCNE1	898	genome.wustl.edu	37	chr19	30312651	30312651	+	Missense_Mutation	SNP	A	A	G	1	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	aatctatcctccaaagttgcAccagtttgcgtatgtgacag	11	12	8	10	1	1	1	0	1	1	0	3	1	3	1	3	0	2	4	3	0	4	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr19:30312651A>G	ENST00000262643.3	+	8	911	c.632A>G	c.(631-633)cAc>cGc	p.H211R	CCNE1_ENST00000444983.2_Missense_Mutation_p.H196R|CCNE1_ENST00000357943.5_Missense_Mutation_p.H168R	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	211					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCAAAGTTGCACCAGTTTGCG	0.398			A		serous ovarian																																			Dom	yes		19	19q12	898	cyclin E1		E	0													94	91	92					19																	30312651		2203	4300	6503	SO:0001583	missense	0			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"cyclin Es", "cyclin Et"	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.632A>G	19.37:g.30312651A>G	ENSP00000262643:p.His211Arg		A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.H211R	ENST00000262643.3	37	c.632	CCDS12419.1	19	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619948	0.46736	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.10668	2.85;2.85;2.85	6.08	6.08	0.98989	Cyclin, N-terminal (1);Cyclin-like (3);	0.086328	0.85682	D	0.000000	T	0.08670	0.0215	N	0.25094	0.71	0.58432	D	0.999998	B	0.27732	0.187	B	0.21360	0.034	T	0.32719	-0.9896	10	0.25751	T	0.34	.	15.8323	0.78764	1.0:0.0:0.0:0.0	.	211	P24864	CCNE1_HUMAN	R	211;168;196	ENSP00000262643:H211R;ENSP00000350625:H168R;ENSP00000410179:H196R	ENSP00000262643:H211R	H	+	2	0	CCNE1	35004491	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.102000	0.71486	2.333000	0.79357	0.482000	0.46254	CAC	CCNE1	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000105173		0.398	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNE1	HGNC	protein_coding	OTTHUMT00000438138.1	-	0	83	0	A	NM_001238		30312651	1	tier1	-	no_errors	ENST00000262643	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	G	G	30312651	A	G	30312651	3	3	145	1	0	0	0	0	1	0	0	0	2927	159	6	4	658	4	CCNE1	19	30312651	Missense_Mutation	SNP	A	TCGA-R6-A6XQ-01B-11D-A33E-09	12552321	30312651	28816332	235	37020											
ZNF345	25850	genome.wustl.edu	37	chr19	37368066	37368066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttaccatcaaagaattCatactggtgagaagcctttt	12	14	7	8	0	2	2	2	1	0	2	2	3	2	2	2	1	4	1	2	1	5	6			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr19:37368066C>A	ENST00000529555.1	+	2	1122	c.334C>A	c.(334-336)Cat>Aat	p.H112N	ZNF345_ENST00000420450.1_Missense_Mutation_p.H112N|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.H112N|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	112					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)			TCAAAGAATTCATACTGGTGA	0.428																																																	0													64	66	65					19																	37368066		2203	4300	6503	SO:0001583	missense	0			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.334C>A	19.37:g.37368066C>A	ENSP00000431202:p.His112Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H112N	ENST00000529555.1	37	c.334	CCDS12497.1	19	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261848	0.59431	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000331800	T;T;T	0.67345	-0.26;-0.26;3.19	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82783	0.5112	M	0.86805	2.84	0.32276	N	0.568277	D	0.64830	0.994	D	0.79784	0.993	D	0.85688	0.1305	8	.	.	.	.	13.4821	0.61342	0.0:1.0:0.0:0.0	.	112	Q14585	ZN345_HUMAN	N	112	ENSP00000431216:H112N;ENSP00000431202:H112N;ENSP00000331120:H112N	.	H	+	1	0	ZNF345	42059906	0.965000	0.33210	1.000000	0.80357	0.908000	0.53690	2.899000	0.48679	2.280000	0.76307	0.561000	0.74099	CAT	ZNF345	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000251247		0.428	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF345	HGNC	protein_coding	OTTHUMT00000388258.1		0	49	0	C			37368066	1			no_errors	ENST00000420450	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	A	A	37368066	C	A	37368066	3	1	145	1	0	0	0	0	1	0	0	0	17907	826	29	3	336	3	ZNF345	19	37368066	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	7055415	37368066	21760917	236	37021											
SLC8A2	6543	genome.wustl.edu	37	chr19	47960696	47960696	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtccagctcgatgctcttCggggggtcgccctcggcgcc	2	8	14	17	6	1	0	0	0	1	0	6	1	2	0	4	4	2	2	4	4	0	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr19:47960696C>T	ENST00000236877.6	-	3	1226	c.831G>A	c.(829-831)ccG>ccA	p.P277P	SLC8A2_ENST00000542837.1_Silent_p.P33P|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	277					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CGATGCTCTTCGGGGGGTCGC	0.711																																																	0													11	16	15					19																	47960696		2190	4281	6471	SO:0001819	synonymous_variant	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.831G>A	19.37:g.47960696C>T			B4DYQ9	Silent	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.P277	ENST00000236877.6	37	c.831	CCDS33065.1	19																																																																																			SLC8A2	-	tigrfam_Na_Ca_Ex	ENSG00000118160		0.711	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	-	0	24	0	C			47960696	-1	tier1	-	no_errors	ENST00000236877	ensembl	human	known	74_37	silent	76.19	5	16	SNP	0.993	T	T	47960696	C	T	47960696	2	4	145	1	0	0	0	0	0	0	0	1	14752	871	31	1		1	SLC8A2	19	47960696	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	10592630	47960696	11168287	237	37022											
ZNF473	25888	genome.wustl.edu	37	chr19	50545064	50545064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggaggaagcccagaaGcaacaagccctggtgagtgg	12	4	16	9	0	0	2	0	1	0	1	0	4	0	4	2	5	4	2	2	5	4	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr19:50545064G>T	ENST00000595661.1	+	5	709	c.214G>T	c.(214-216)Gca>Tca	p.A72S	ZNF473_ENST00000601364.1_Missense_Mutation_p.A72S|ZNF473_ENST00000270617.3_Missense_Mutation_p.A72S|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.A72S|ZNF473_ENST00000445728.3_Missense_Mutation_p.A60S|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)		AAGCCCAGAAGCAACAAGCCC	0.587																																																	0													73	74	73					19																	50545064		2203	4300	6503	SO:0001583	missense	0			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.214G>T	19.37:g.50545064G>T	ENSP00000472808:p.Ala72Ser		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A72S	ENST00000595661.1	37	c.214	CCDS33077.1	19	.	.	.	.	.	.	.	.	.	.	G	3.261	-0.151260	0.06585	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.09163	3.19;3.19;3.01	5.05	2.88	0.33553	Krueppel-associated box (1);	1.336410	0.05322	N	0.526751	T	0.04770	0.0129	N	0.02142	-0.665	0.09310	N	0.999999	B	0.17038	0.02	B	0.19391	0.025	T	0.30592	-0.9973	10	0.07644	T	0.81	-0.025	10.8269	0.46638	0.0:0.0:0.6135:0.3865	.	72	Q8WTR7	ZN473_HUMAN	S	72;72;60	ENSP00000270617:A72S;ENSP00000375697:A72S;ENSP00000388961:A60S	ENSP00000270617:A72S	A	+	1	0	ZNF473	55236876	0.230000	0.23740	0.193000	0.23327	0.070000	0.16714	1.883000	0.39658	0.738000	0.32606	0.561000	0.74099	GCA	ZNF473	-	pfscan_Krueppel-associated_box	ENSG00000142528		0.587	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	-	0	62	0	G	XM_046390		50545064	1	tier1	-	no_errors	ENST00000270617	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.278	T	T	50545064	G	T	50545064	3	4	145	1	0	0	0	0	1	0	0	0	17979	971	34	3	224	3	ZNF473	19	50545064	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	2584368	50545064	8583919	238	37023											
ZNF813	126017	genome.wustl.edu	37	chr19	53994704	53994704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcgtagacttcatacCggagagaagccttacaagtg	12	9	10	10	2	1	2	1	0	0	2	2	4	1	3	3	1	4	1	3	1	5	4	rs372871030		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr19:53994704C>T	ENST00000396403.4	+	4	1346	c.1218C>T	c.(1216-1218)acC>acT	p.T406T	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GACTTCATACCGGAGAGAAGC	0.403																																																	0								T		1,4399	2.1+/-5.4	0,1,2199	64	68	66		1218	0.1	0.1	19		66	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	ZNF813	NM_001004301.3		0,3,6496	TT,TC,CC		0.0233,0.0227,0.0231		406/618	53994704	3,12995	2200	4299	6499	SO:0001819	synonymous_variant	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1218C>T	19.37:g.53994704C>T				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T406	ENST00000396403.4	37	c.1218	CCDS46172.1	19																																																																																			ZNF813	-	pfscan_Znf_C2H2	ENSG00000198346		0.403	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	-	0	103	0	C	NM_001004301		53994704	1	tier1	-	no_errors	ENST00000396403	ensembl	human	known	74_37	silent	23.08	40	12	SNP	0.994	T	T	53994704	C	T	53994704	2	4	145	1	0	0	0	0	0	0	0	1	18223	639	23	1		1	ZNF813	19	53994704	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	3449640	53994704	5134279	239	37024											
NLRP12	91662	genome.wustl.edu	37	chr19	54313956	54313956	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttaagaagcagctccgtGggccgtttctcctcccagca	7	10	10	14	2	1	1	0	0	1	1	4	1	3	1	4	1	3	5	4	1	2	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr19:54313956G>T	ENST00000324134.6	-	3	1125	c.957C>A	c.(955-957)ccC>ccA	p.P319P	NLRP12_ENST00000351894.4_Silent_p.P319P|NLRP12_ENST00000354278.3_Silent_p.P319P|NLRP12_ENST00000345770.5_Silent_p.P319P|NLRP12_ENST00000391772.1_Silent_p.P319P|NLRP12_ENST00000391773.1_Silent_p.P319P|NLRP12_ENST00000535162.1_Silent_p.P319P|NLRP12_ENST00000391775.3_Silent_p.P319P	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	319	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)		GCAGCTCCGTGGGCCGTTTCT	0.572																																																	0													45	48	47					19																	54313956		2203	4300	6503	SO:0001819	synonymous_variant	0			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.957C>A	19.37:g.54313956G>T			A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P319	ENST00000324134.6	37	c.957	CCDS12864.1	19																																																																																			NLRP12	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000142405		0.572	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	-	0	42	0	G	NM_144687		54313956	-1	tier1	-	no_errors	ENST00000324134	ensembl	human	known	74_37	silent	8.16	44	4	SNP	0.235	T	T	54313956	G	T	54313956	2	4	145	1	0	0	0	0	0	0	0	1	10513	1335	47	3		3	NLRP12	19	54313956	Silent	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	319252	54313956	4815027	240	37025											
GZF1	64412	genome.wustl.edu	37	chr20	23345574	23345577	+	Frame_Shift_Del	DEL	GAGA	GAGA	-																															ggattccttggactacccagGagagagagccagcaatggca																								rs374194682		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	GAGA	GAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr20:23345574_23345577delGAGA	ENST00000338121.5	+	2	631_634	c.554_557delGAGA	c.(553-558)ggagagfs	p.GE185fs	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Frame_Shift_Del_p.GE185fs|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	185					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GACTACCCAGGAGAGAGAGCCAGC	0.539																																																	0																																										SO:0001589	frameshift_variant	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.554_557delGAGA	20.37:g.23345578_23345581delGAGA	ENSP00000338290:p.Gly185fs		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R187fs	ENST00000338121.5	37	c.554_557	CCDS13151.1	20																																																																																			GZF1	-	NULL	ENSG00000125812		0.539	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1		0	64	0	GAGA	NM_022482		23345577	1	tier1		no_errors	ENST00000338121	ensembl	human	known	74_37	frame_shift_del	16.19	88	17	DEL	0.000:0.000:0.001:0.000	-	-	23345577	GAGA	-	23345574	7	5	145	1	0	1	0	1	0	0	0	0	6941	1174	41	0	556	0	GZF1	20	23345574	Frame_Shift_Del	DEL	GAGA	TCGA-R6-A6XQ-01B-11D-A33E-09		23345574	39679946	241	37026											
XKR7	343702	genome.wustl.edu	37	chr20	30584665	30584665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagggccgcagccgccGccgcatgaccctctaccact	8	4	11	18	4	1	1	0	1	1	0	1	2	1	2	6	2	2	2	6	2	2	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr20:30584665G>A	ENST00000562532.2	+	3	1319	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	382						integral component of membrane (GO:0016021)		p.R382H(1)		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)			CGCAGCCGCCGCCGCATGACC	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											45	39	41					20																	30584665		2203	4300	6503	SO:0001583	missense	0			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.1145G>A	20.37:g.30584665G>A	ENSP00000477059:p.Arg382His		Q9NUG5	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.R382H	ENST00000562532.2	37	c.1145	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	G	4.845	0.157145	0.09236	.	.	ENSG00000101321	ENST00000217299	T	0.63744	-0.06	5.16	3.2	0.36748	.	0.376195	0.30620	N	0.009230	T	0.42177	0.1191	N	0.16656	0.425	0.22127	N	0.999341	B	0.15930	0.015	B	0.12156	0.007	T	0.17992	-1.0351	10	0.15952	T	0.53	.	11.3416	0.49535	0.2394:0.0:0.7606:0.0	.	382	Q5GH72	XKR7_HUMAN	H	382	ENSP00000217299:R382H	ENSP00000217299:R382H	R	+	2	0	XKR7	30048326	0.889000	0.30405	0.998000	0.56505	0.713000	0.41058	0.755000	0.26405	0.207000	0.20607	-1.134000	0.01955	CGC	XKR7	-	pfam_Transport_prot_XK	ENSG00000260903		0.582	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3	-	0	52	0	G	NM_001011718		30584665	1	tier1	-	no_errors	ENST00000562532	ensembl	human	known	74_37	missense	47.89	37	34	SNP	0.998	A	A	30584665	G	A	30584665	3	1	145	1	0	0	0	0	1	0	0	0	17485	1087	38	1	1155	1	XKR7	20	30584665	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	7239091	30584665	32440855	242	37027											
CEP250	11190	genome.wustl.edu	37	chr20	34092220	34092220	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gcaagcctccctggatgcctGccaggcacacagtcggcagc	8	5	12	16	1	0	0	0	0	0	0	2	1	1	1	4	3	4	3	4	3	1	0			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr20:34092220G>T	ENST00000397527.1	+	30	6743	c.6023G>T	c.(6022-6024)tGc>tTc	p.C2008F	CEP250_ENST00000342580.4_Missense_Mutation_p.C1952F	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2008	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGGATGCCTGCCAGGCACAC	0.612																																																	0													19	21	20					20																	34092220		2203	4300	6503	SO:0001583	missense	0			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.6023G>T	20.37:g.34092220G>T	ENSP00000380661:p.Cys2008Phe		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.C2008F	ENST00000397527.1	37	c.6023	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980844	0.18812	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.57907	2.43;2.37;0.37	4.91	3.96	0.45880	.	0.187668	0.38326	N	0.001740	T	0.65801	0.2726	L	0.49126	1.545	0.30525	N	0.768041	D	0.89917	1.0	D	0.85130	0.997	T	0.68040	-0.5514	10	0.87932	D	0	.	13.1502	0.59484	0.0782:0.0:0.9218:0.0	.	2008	Q9BV73	CP250_HUMAN	F	2008;1952;496	ENSP00000380661:C2008F;ENSP00000341541:C1952F;ENSP00000395992:C496F	ENSP00000341541:C1952F	C	+	2	0	CEP250	33555634	0.998000	0.40836	0.995000	0.50966	0.082000	0.17680	3.305000	0.51873	1.294000	0.44707	-0.150000	0.13652	TGC	CEP250	-	NULL	ENSG00000126001		0.612	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	-	0	28	0	G	NM_007186		34092220	1	tier1	-	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.968	T	T	34092220	G	T	34092220	3	4	145	1	0	0	0	0	1	0	0	0	3259	1319	46	3	6129	3	CEP250	20	34092220	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	3507555	34092220	28933300	243	37028											
JPH2	57158	genome.wustl.edu	37	chr20	42788997	42788997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgtagggcacgctctggcGtactccgtagccatggcgca	6	7	13	15	5	1	0	0	0	1	0	2	0	2	0	3	3	2	6	3	3	3	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr20:42788997G>A	ENST00000372980.3	-	2	1302	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	144					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACGCTCTGGCGTACTCCGTAG	0.716																																																	0													19	11	14					20																	42788997		2107	4117	6224	SO:0001583	missense	0			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.430C>T	20.37:g.42788997G>A	ENSP00000362071:p.Arg144Cys		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.R144C	ENST00000372980.3	37	c.430	CCDS13325.1	20	.	.	.	.	.	.	.	.	.	.	g	20.7	4.037693	0.75617	.	.	ENSG00000149596	ENST00000372980	T	0.53857	0.6	3.34	3.34	0.38264	.	0.000000	0.85682	U	0.000000	T	0.64371	0.2592	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68918	-0.5282	10	0.66056	D	0.02	.	14.8586	0.70362	0.0:0.0:1.0:0.0	.	144	Q9BR39	JPH2_HUMAN	C	144	ENSP00000362071:R144C	ENSP00000362071:R144C	R	-	1	0	JPH2	42222411	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	9.122000	0.94380	1.700000	0.51204	0.306000	0.20318	CGC	JPH2	-	pfam_MORN,smart_MORN,pirsf_Junctophilin	ENSG00000149596		0.716	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	HGNC	protein_coding	OTTHUMT00000080307.1	-	0	56	0	G			42788997	-1	tier1	-	no_errors	ENST00000372980	ensembl	human	known	74_37	missense	29.91	75	32	SNP	1.000	A	A	42788997	G	A	42788997	3	1	145	1	0	0	0	0	1	0	0	0	7988	1145	40	1	1676	1	JPH2	20	42788997	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	8696777	42788997	20236523	244	37029											
SPATA2	9825	genome.wustl.edu	37	chr20	48522354	48522354	+	Silent	SNP	C	C	A	0	0	0	1	1	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	aagccacagcgggaagtgggCgtggtggagggcttggattt	8	8	19	6	2	0	0	0	0	0	0	0	3	0	3	1	6	2	1	1	6	2	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr20:48522354C>A	ENST00000422556.1	-	3	1714	c.1365G>T	c.(1363-1365)acG>acT	p.T455T	SPATA2_ENST00000289431.5_Silent_p.T455T|SPATA2_ENST00000543716.1_Silent_p.T318T	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	455					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)			GGGAAGTGGGCGTGGTGGAGG	0.637																																																	0													100	92	95					20																	48522354		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1365G>T	20.37:g.48522354C>A			E1P626|O94857	Silent	SNP	NULL	p.T455	ENST00000422556.1	37	c.1365	CCDS13422.1	20																																																																																			SPATA2	-	NULL	ENSG00000158480		0.637	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2	HGNC	protein_coding	OTTHUMT00000079658.1		0	21	0	C	NM_006038		48522354	-1			no_errors	ENST00000289431	ensembl	human	known	74_37	silent	6.45	28	2	SNP	0.062	A	A	48522354	C	A	48522354	2	1	145	1	0	0	0	0	0	0	0	1	15052	755	27	2		2	SPATA2	20	48522354	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	5733357	48522354	14503166	245	37030											
TSHZ2	128553	genome.wustl.edu	37	chr20	51871739	51871739	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgaggcccattgcaccaaAgtggaaagtgatgccactgg	11	7	13	10	0	0	2	0	2	0	0	0	3	0	3	3	3	2	2	3	3	2	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr20:51871739A>T	ENST00000371497.5	+	2	2629	c.1742A>T	c.(1741-1743)aAg>aTg	p.K581M	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.K578M|TSHZ2_ENST00000329613.6_Missense_Mutation_p.K578M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	581					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)			ATTGCACCAAAGTGGAAAGTG	0.527																																																	0													115	105	108					20																	51871739		2203	4300	6503	SO:0001583	missense	0			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.1742A>T	20.37:g.51871739A>T	ENSP00000360552:p.Lys581Met		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.K581M	ENST00000371497.5	37	c.1742	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	A	14.21	2.468671	0.43839	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.30182	1.54;1.54	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57906	-0.7730	10	0.72032	D	0.01	-3.1918	16.1307	0.81436	1.0:0.0:0.0:0.0	.	581	Q9NRE2	TSH2_HUMAN	M	581;578;107	ENSP00000360552:K581M;ENSP00000333114:K578M	ENSP00000333114:K578M	K	+	2	0	TSHZ2	51305146	1.000000	0.71417	0.988000	0.46212	0.108000	0.19459	8.956000	0.93066	2.220000	0.72140	0.523000	0.50628	AAG	TSHZ2	-	NULL	ENSG00000182463		0.527	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	-	0	43	0	A	NM_173485		51871739	1	tier1	-	no_errors	ENST00000371497	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	T	T	51871739	A	T	51871739	3	4	145	1	0	0	0	0	1	0	0	0	16672	72	3	5	1748	5	TSHZ2	20	51871739	Missense_Mutation	SNP	A	TCGA-R6-A6XQ-01B-11D-A33E-09	3349385	51871739	11153781	246	37031											
CYP24A1	1591	genome.wustl.edu	37	chr20	52779343	52779343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgataaatgtcacaaagGaaatctgcactaggctgctg	13	10	11	7	0	2	1	1	1	1	0	2	2	2	2	0	3	2	3	0	3	5	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr20:52779343G>T	ENST00000216862.3	-	7	1296	c.903C>A	c.(901-903)ttC>ttA	p.F301L	CYP24A1_ENST00000395955.3_Missense_Mutation_p.F301L|CYP24A1_ENST00000395954.3_Missense_Mutation_p.F159L	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	301					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|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 D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGTCACAAAGGAAATCTGCAC	0.453																																																	0													89	82	84					20																	52779343		2203	4300	6503	SO:0001583	missense	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.903C>A	20.37:g.52779343G>T	ENSP00000216862:p.Phe301Leu		Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.F301L	ENST00000216862.3	37	c.903	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953426	0.34471	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.70516	-0.49;-0.49;-0.49	5.6	2.6	0.31112	.	0.052897	0.85682	D	0.000000	T	0.58395	0.2119	L	0.35487	1.065	0.45567	D	0.998518	B;B;B	0.24317	0.004;0.101;0.059	B;B;B	0.32980	0.043;0.156;0.042	T	0.52859	-0.8519	10	0.29301	T	0.29	-26.2327	8.5483	0.33435	0.3461:0.0:0.6539:0.0	.	301;301;159	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	L	301;301;159	ENSP00000216862:F301L;ENSP00000379285:F301L;ENSP00000379284:F159L	ENSP00000216862:F301L	F	-	3	2	CYP24A1	52212750	0.985000	0.35326	0.980000	0.43619	0.715000	0.41141	0.189000	0.17037	1.370000	0.46153	0.655000	0.94253	TTC	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP24A_mit	ENSG00000019186		0.453	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	-	0	77	0	G			52779343	-1	tier1	-	no_errors	ENST00000216862	ensembl	human	known	74_37	missense	22.03	46	13	SNP	0.998	T	T	52779343	G	T	52779343	3	4	145	1	0	0	0	0	1	0	0	0	4163	1165	41	3	661	3	CYP24A1	20	52779343	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	907604	52779343	10246177	247	37032											
ZNF512B	57473	genome.wustl.edu	37	chr20	62594454	62594454	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagccactcacgggggcCgtgtgctccgagcgcacgtg	7	5	16	13	5	1	1	1	0	0	1	2	3	2	1	3	2	3	2	3	2	0	0	rs147556068		TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr20:62594454C>A	ENST00000450537.1	-	12	2022	c.1962G>T	c.(1960-1962)acG>acT	p.T654T	ZNF512B_ENST00000217130.3_Silent_p.T654T|ZNF512B_ENST00000369888.1_Silent_p.T654T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	654					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)					TCACGGGGGCCGTGTGCTCCG	0.622																																																	0													45	29	34					20																	62594454		2191	4289	6480	SO:0001819	synonymous_variant	0			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.1962G>T	20.37:g.62594454C>A			Q08AK9|Q9ULM4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T654	ENST00000450537.1	37	c.1962	CCDS13548.1	20																																																																																			ZNF512B	-	pfscan_Znf_C2H2	ENSG00000196700		0.622	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF512B	HGNC	protein_coding	OTTHUMT00000080246.1		0	57	0	C	NM_020713		62594454	-1			no_errors	ENST00000217130	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.083	A	A	62594454	C	A	62594454	2	1	145	1	0	0	0	0	0	0	0	1	18005	639	23	2		2	ZNF512B	20	62594454	Silent	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	9815111	62594454	431066	248	37033											
CHAF1B	8208	genome.wustl.edu	37	chr21	37771856	37771856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtatacagaagaagcgtgtgGctttcaatgtttcgaagatg	12	12	12	5	2	1	3	1	0	0	3	2	4	1	3	0	1	2	3	0	1	6	4			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr21:37771856G>T	ENST00000314103.5	+	7	767	c.616G>T	c.(616-618)Gct>Tct	p.A206S		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	206					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GAAGCGTGTGGCTTTCAATGT	0.398																																																	0													150	142	145					21																	37771856		2203	4300	6503	SO:0001583	missense	0			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.616G>T	21.37:g.37771856G>T	ENSP00000315700:p.Ala206Ser		Q99548	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B	p.A206S	ENST00000314103.5	37	c.616	CCDS13644.1	21	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959052	0.74016	.	.	ENSG00000159259	ENST00000314103	T	0.64991	-0.13	5.48	5.48	0.80851	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	0.70876	0.3274	M	0.68317	2.08	0.80722	D	1	P	0.51933	0.949	P	0.54759	0.76	T	0.65833	-0.6072	10	0.09338	T	0.73	-24.8358	18.9576	0.92665	0.0:0.0:1.0:0.0	.	206	Q13112	CAF1B_HUMAN	S	206	ENSP00000315700:A206S	ENSP00000315700:A206S	A	+	1	0	CHAF1B	36693726	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.503000	0.81632	2.560000	0.86352	0.563000	0.77884	GCT	CHAF1B	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000159259		0.398	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1B	HGNC	protein_coding	OTTHUMT00000194616.2	-	0	50	0	G	NM_005441		37771856	1	tier1	-	no_errors	ENST00000314103	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	37771856	G	T	37771856	3	4	145	1	0	0	0	0	1	0	0	0	3319	1203	42	3	638	3	CHAF1B	21	37771856	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		37771856	10358039	249	37034											
LZTR1	8216	genome.wustl.edu	37	chr22	21343119	21343119	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccatggggccacggtgtacaGtgacaagctgtggatctttg	8	10	14	9	1	1	1	0	1	1	0	1	2	1	2	2	4	2	2	2	4	2	2			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr22:21343119G>T	ENST00000215739.8	+	6	910	c.551G>T	c.(550-552)aGt>aTt	p.S184I	LZTR1_ENST00000389355.3_Missense_Mutation_p.S165I|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	184					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGTGTACAGTGACAAGCTG	0.652																																																	0													175	134	148					22																	21343119		2203	4300	6503	SO:0001583	missense	0			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.551G>T	22.37:g.21343119G>T	ENSP00000215739:p.Ser184Ile		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.S184I	ENST00000215739.8	37	c.551	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982567	0.74474	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.67523	-0.27;-0.27	5.87	2.61	0.31194	Kelch-type beta propeller (1);	0.081401	0.85682	D	0.000000	T	0.58963	0.2159	N	0.19112	0.55	0.52099	D	0.999943	P;P;P;D	0.59357	0.873;0.953;0.873;0.985	P;P;P;P	0.54100	0.5;0.637;0.602;0.742	T	0.60321	-0.7286	10	0.72032	D	0.01	-8.4682	7.9722	0.30134	0.2845:0.0:0.7155:0.0	.	165;143;184;143	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	I	143;184;165	ENSP00000215739:S184I;ENSP00000374006:S165I	ENSP00000215739:S184I	S	+	2	0	LZTR1	19673119	0.998000	0.40836	0.998000	0.56505	0.891000	0.51852	1.953000	0.40352	0.753000	0.32945	-0.140000	0.14226	AGT	LZTR1	-	smart_Kelch_1	ENSG00000099949		0.652	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0	60	0	G	NM_006767		21343119	1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.999	T	T	21343119	G	T	21343119	3	4	145	1	0	0	0	0	1	0	0	0	9173	1029	36	3	573	3	LZTR1	22	21343119	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		21343119	29961447	250	37035											
SF3A1	10291	genome.wustl.edu	37	chr22	30736220	30736220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	catcatcgctctgcttctcaCggatggagcgatcccgctgc	6	10	10	15	4	3	0	2	0	2	0	6	3	4	2	1	2	3	3	1	2	0	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr22:30736220C>T	ENST00000215793.8	-	9	1494	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	SF3A1_ENST00000439242.1_Missense_Mutation_p.R382H	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	447					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CTGCTTCTCACGGATGGAGCG	0.562																																																	0													48	47	47					22																	30736220		2203	4300	6503	SO:0001583	missense	0			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1340G>A	22.37:g.30736220C>T	ENSP00000215793:p.Arg447His		E9PAW1	Missense_Mutation	SNP	pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.R447H	ENST00000215793.8	37	c.1340	CCDS13875.1	22	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584671	0.86748	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.31510	1.49;1.49	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.33548	-0.9864	10	0.42905	T	0.14	-6.2693	20.6439	0.99570	0.0:1.0:0.0:0.0	.	447	Q15459	SF3A1_HUMAN	H	382;447;344;143	ENSP00000390336:R382H;ENSP00000215793:R447H	ENSP00000215793:R447H	R	-	2	0	SF3A1	29066220	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.684000	0.84104	2.884000	0.98904	0.655000	0.94253	CGT	SF3A1	-	pfam_PRP21-like	ENSG00000099995		0.562	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	HGNC	protein_coding	OTTHUMT00000320916.2	-	0	40	0	C	NM_005877		30736220	-1	tier1	-	no_errors	ENST00000215793	ensembl	human	known	74_37	missense	57.14	12	16	SNP	1.000	T	T	30736220	C	T	30736220	3	4	145	1	0	0	0	0	1	0	0	0	14191	536	19	1	1073	1	SF3A1	22	30736220	Missense_Mutation	SNP	C	TCGA-R6-A6XQ-01B-11D-A33E-09	9393101	30736220	20568346	251	37036											
CACNA1I	8911	genome.wustl.edu	37	chr22	40074028	40074028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgcgagggcatgagccGgcatgccaccttcgagaact	8	6	13	14	4	0	2	0	1	0	1	1	4	0	2	4	2	4	2	4	2	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr22:40074028G>A	ENST00000402142.3	+	31	4970	c.4970G>A	c.(4969-4971)cGg>cAg	p.R1657Q	CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1657Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1622Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1622Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1622Q|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1663Q	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1657					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)	GGCATGAGCCGGCATGCCACC	0.642																																																	0													35	37	36					22																	40074028		2074	4206	6280	SO:0001583	missense	0			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.4970G>A	22.37:g.40074028G>A	ENSP00000385019:p.Arg1657Gln		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R1663Q	ENST00000402142.3	37	c.4988	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	G	34	5.361743	0.95877	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34;-4.34;-4.34	4.25	4.25	0.50352	Ion transport (1);	0.127523	0.53938	D	0.000045	D	0.97804	0.9279	L	0.55213	1.73	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.995;0.996;0.996;0.994	D	0.98748	1.0719	10	0.66056	D	0.02	.	17.526	0.87800	0.0:0.0:1.0:0.0	.	1622;1657;1622;1657	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Q	1657;1622;1657;1622;1663;1622	ENSP00000385019:R1657Q;ENSP00000384093:R1622Q;ENSP00000383887:R1657Q;ENSP00000385680:R1622Q;ENSP00000337829:R1663Q;ENSP00000383028:R1622Q	ENSP00000337829:R1663Q	R	+	2	0	CACNA1I	38403974	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.739000	0.98837	2.291000	0.77112	0.448000	0.29417	CGG	CACNA1I	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000100346		0.642	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	-	0	121	0	G	NM_001003406		40074028	1	tier1	-	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	16.09	72	14	SNP	1.000	A	A	40074028	G	A	40074028	3	1	145	1	0	0	0	0	1	0	0	0	2553	1116	39	1	5092	1	CACNA1I	22	40074028	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	9337808	40074028	11230538	252	37037											
PLXNB2	23654	genome.wustl.edu	37	chr22	50727557	50727557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctccgagccacatgggaaGctcttgctggagccctgcgg	6	8	14	13	2	1	0	0	0	1	0	2	3	2	2	3	3	6	3	3	3	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chr22:50727557G>T	ENST00000449103.1	-	4	1223	c.1083C>A	c.(1081-1083)agC>agA	p.S361R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S361R|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	361	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)		CACATGGGAAGCTCTTGCTGG	0.692																																																	0													9	11	10					22																	50727557		2080	4176	6256	SO:0001583	missense	0				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.1083C>A	22.37:g.50727557G>T	ENSP00000409171:p.Ser361Arg		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.S361R	ENST00000449103.1	37	c.1083	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021710	0.19433	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000411680;ENST00000432455	T;T;T;T	0.10382	2.88;2.88;3.51;2.88	4.58	2.45	0.29901	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.192730	0.36482	N	0.002577	T	0.08358	0.0208	L	0.42487	1.325	0.42717	D	0.993669	B	0.14805	0.011	B	0.15870	0.014	T	0.23655	-1.0182	10	0.18710	T	0.47	.	7.3092	0.26465	0.3854:0.0:0.6146:0.0	.	361	O15031	PLXB2_HUMAN	R	361;361;361;20;361	ENSP00000409171:S361R;ENSP00000352288:S361R;ENSP00000400679:S20R;ENSP00000392620:S361R	ENSP00000352288:S361R	S	-	3	2	PLXNB2	49069684	0.971000	0.33674	0.931000	0.37212	0.258000	0.26162	0.304000	0.19228	0.525000	0.28522	0.561000	0.74099	AGC	PLXNB2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000196576		0.692	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	-	0	58	0	G	NM_012401		50727557	-1	tier1	-	no_errors	ENST00000359337	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.975	T	T	50727557	G	T	50727557	3	4	145	1	0	0	0	0	1	0	0	0	12163	962	34	3	4569	3	PLXNB2	22	50727557	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	10653529	50727557	577009	253	37038											
CASK	8573	genome.wustl.edu	37	chrX	41446170	41446170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattacttaccatgaaatgaGgttgtgttaaaatacgcttt	13	16	7	5	1	0	2	0	2	0	0	0	2	0	2	1	1	3	3	1	1	7	7			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chrX:41446170G>T	ENST00000378163.1	-	14	1778	c.1304C>A	c.(1303-1305)cCt>cAt	p.P435H	CASK_ENST00000378166.4_Missense_Mutation_p.P435H|CASK_ENST00000318588.9_Missense_Mutation_p.P435H|CASK_ENST00000442742.2_Missense_Mutation_p.P435H|CASK_ENST00000421587.2_Missense_Mutation_p.P429H|CASK_ENST00000378158.1_Missense_Mutation_p.P435H|CASK_ENST00000378154.1_Missense_Mutation_p.P435H|CASK_ENST00000361962.4_Missense_Mutation_p.P435H			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	435	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CATGAAATGAGGTTGTGTTAA	0.308																																					NSCLC(42;104 1086 3090 27189 35040)												0													103	90	95					X																	41446170		2202	4299	6501	SO:0001583	missense	0			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1304C>A	X.37:g.41446170G>T	ENSP00000367405:p.Pro435His		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Guanylate_kin-like	p.P435H	ENST00000378163.1	37	c.1304		X	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414989	0.83449	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T;T	0.72167	-0.53;-0.52;-0.53;-0.51;3.19;-0.53;-0.52;-0.53;-0.63	5.22	5.22	0.72569	L27, C-terminal (1);L27 (2);	0.000000	0.50627	D	0.000120	D	0.87382	0.6163	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.91635	0.999;0.99;0.987;0.997	D	0.90280	0.4314	10	0.87932	D	0	.	17.9031	0.88910	0.0:0.0:1.0:0.0	.	429;435;435;435	O14936-3;O14936-4;O14936-2;O14936	.;.;.;CSKP_HUMAN	H	429;435;435;435;50;435;435;435;435	ENSP00000400526:P429H;ENSP00000322727:P435H;ENSP00000354641:P435H;ENSP00000367405:P435H;ENSP00000367421:P50H;ENSP00000367400:P435H;ENSP00000367408:P435H;ENSP00000398007:P435H;ENSP00000367396:P435H	ENSP00000322727:P435H	P	-	2	0	CASK	41331114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.372000	0.97165	2.161000	0.67846	0.506000	0.49869	CCT	CASK	-	pfam_L27_C,smart_L27,pfscan_L27	ENSG00000147044		0.308	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	-	0	64	0	G	NM_003688		41446170	-1	tier1	-	no_errors	ENST00000378163	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	41446170	G	T	41446170	3	4	145	1	0	0	0	0	1	0	0	0	2672	1000	35	3	1532	3	CASK	23	41446170	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09		41446170	113824390	254	37039											
TRO	7216	genome.wustl.edu	37	chrX	54951451	54951451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatgtcatccaagaatatGatgaatatttcccagaaatc	15	11	8	7	0	1	4	1	2	0	2	4	5	3	5	2	1	0	0	2	1	6	3			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chrX:54951451G>A	ENST00000173898.7	+	6	1547	c.1435G>A	c.(1435-1437)Gat>Aat	p.D479N	TRO_ENST00000420798.2_Missense_Mutation_p.D10N|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000375022.4_Missense_Mutation_p.D479N|TRO_ENST00000375041.2_Missense_Mutation_p.D82N|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000399736.1_Missense_Mutation_p.D82N|TRO_ENST00000319167.8_Missense_Mutation_p.D479N	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	479	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				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						CCAAGAATATGATGAATATTT	0.512																																																	0													64	57	60					X																	54951451		2139	4242	6381	SO:0001583	missense	0			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.1435G>A	X.37:g.54951451G>A	ENSP00000173898:p.Asp479Asn		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.D479N	ENST00000173898.7	37	c.1435	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079411	0.55753	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000431115;ENST00000375041	T;T;T;T;T;T;T	0.04654	3.58;3.58;3.58;3.58;3.58;3.58;3.58	2.66	1.79	0.24919	.	.	.	.	.	T	0.08313	0.0207	N	0.22421	0.69	0.21762	N	0.999557	P;B;D;P	0.64830	0.877;0.268;0.994;0.877	P;B;D;P	0.67231	0.635;0.21;0.95;0.635	T	0.31364	-0.9946	9	0.66056	D	0.02	.	4.3175	0.11000	0.341:0.0:0.659:0.0	.	82;82;479;479	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	N	479;479;479;82;82;10;82;82	ENSP00000173898:D479N;ENSP00000318278:D479N;ENSP00000364162:D479N;ENSP00000382641:D82N;ENSP00000405126:D10N;ENSP00000407996:D82N;ENSP00000364181:D82N	ENSP00000173898:D479N	D	+	1	0	TRO	54968176	1.000000	0.71417	0.993000	0.49108	0.921000	0.55340	1.234000	0.32660	0.520000	0.28426	0.422000	0.28245	GAT	TRO	-	pfam_MAGE,pfscan_MAGE	ENSG00000067445		0.512	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3		0	21	0	G	NM_016157		54951451	1			no_errors	ENST00000173898	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.991	A	A	54951451	G	A	54951451	3	1	145	1	0	0	0	0	1	0	0	0	16622	1290	45	3	1453	3	TRO	23	54951451	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	13505281	54951451	100319109	255	37040											
PGK1	5230	genome.wustl.edu	37	chrX	77369397	77369397	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaatctctgctgggcaaGtaagtgccaggctctggtgc	8	10	12	11	0	3	0	1	0	2	0	4	0	3	0	1	3	3	4	1	3	3	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chrX:77369397G>T	ENST00000373316.4	+	3	439		c.e3+1		PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	TGCTGGGCAAGTAAGTGCCAG	0.502																																																	0													81	76	78					X																	77369397		2203	4299	6502	SO:0001630	splice_region_variant	0			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.272+1G>T	X.37:g.77369397G>T			A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Splice_Site	SNP	-	e3+1	ENST00000373316.4	37	c.272+1	CCDS14438.1	X	.	.	.	.	.	.	.	.	.	.	g	20.0	3.930947	0.73327	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4077	0.67093	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PGK1	77256053	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.396000	0.97270	2.236000	0.73375	0.597000	0.82753	.	PGK1	-	-	ENSG00000102144		0.502	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	HGNC	protein_coding	OTTHUMT00000057310.1		0	24	0	G		Intron	77369397	1			no_errors	ENST00000373316	ensembl	human	known	74_37	splice_site	8.70	42	4	SNP	1.000	T	T	77369397	G	T	77369397	5	4	145	1	0	0	0	0	0	0	1	0	11829	1043	36	3	283	3	PGK1	23	77369397	Splice_Site	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	22417946	77369397	77901163	256	37041											
IGSF1	3547	genome.wustl.edu	37	chrX	130417199	130417199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttctccaggtgccatgatgGgcccaggatgggctgtcaaa	8	10	13	10	0	2	1	1	1	1	0	3	2	2	2	3	4	1	1	3	4	1	1			TCGA-R6-A6XQ-01B-11D-A33E-09	TCGA-R6-A6XQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	054b1b1a-f530-4fa5-badc-e4fca6d2b898	cf40064b-0e80-4dea-ae65-c6db0c79d07d	g.chrX:130417199G>T	ENST00000361420.3	-	6	786	c.707C>A	c.(706-708)cCc>cAc	p.P236H	IGSF1_ENST00000370904.1_Missense_Mutation_p.P227H|IGSF1_ENST00000370910.1_Missense_Mutation_p.P227H|IGSF1_ENST00000370903.3_Missense_Mutation_p.P236H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	236	Ig-like C2-type 3.				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						TGCCATGATGGGCCCAGGATG	0.478																																																	0													67	64	65					X																	130417199		2203	4300	6503	SO:0001583	missense	0			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.707C>A	X.37:g.130417199G>T	ENSP00000355010:p.Pro236His		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P236H	ENST00000361420.3	37	c.707	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484098	0.26598	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00792	5.69;5.69;5.69;5.69	4.46	-1.2	0.09554	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.647057	0.13786	N	0.362910	T	0.00936	0.0031	M	0.66506	2.035	0.22142	N	0.999338	B;B	0.06786	0.0;0.001	B;B	0.12837	0.002;0.008	T	0.49360	-0.8948	10	0.72032	D	0.01	.	0.2827	0.00247	0.2288:0.1657:0.2647:0.3408	.	227;236	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	H	227;236;227;236	ENSP00000359947:P227H;ENSP00000355010:P236H;ENSP00000359941:P227H;ENSP00000359940:P236H	ENSP00000355010:P236H	P	-	2	0	IGSF1	130244880	0.744000	0.28250	0.306000	0.25113	0.990000	0.78478	0.770000	0.26618	-0.223000	0.09943	0.594000	0.82650	CCC	IGSF1	-	smart_Ig_sub	ENSG00000147255		0.478	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1		0	20	0	G			130417199	-1			no_errors	ENST00000370903	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.040	T	T	130417199	G	T	130417199	3	4	145	1	0	0	0	0	1	0	0	0	7623	1232	43	3	3378	3	IGSF1	23	130417199	Missense_Mutation	SNP	G	TCGA-R6-A6XQ-01B-11D-A33E-09	53047802	130417199	24853361	257	37042											
UBE4B	10277	genome.wustl.edu	37	chr1	10132108	10132108	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgacggaggcgccttgcacGacttgctggtggacagacct	7	8	14	12	4	0	1	0	0	0	1	1	5	0	3	2	4	2	2	2	4	0	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:10132108G>C	ENST00000253251.8	+	2	886	c.47G>C	c.(46-48)cGa>cCa	p.R16P	UBE4B_ENST00000377153.1_Missense_Mutation_p.R16P|UBE4B_ENST00000343090.6_Missense_Mutation_p.R16P|UBE4B_ENST00000377157.3_5'UTR					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)		CGCCTTGCACGACTTGCTGGT	0.547																																																	0													79	74	76					1																	10132108		2203	4300	6503	SO:0001583	missense	0			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.47G>C	1.37:g.10132108G>C	ENSP00000253251:p.Arg16Pro			Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.R16P	ENST00000253251.8	37	c.47	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796178	0.90453	.	.	ENSG00000130939	ENST00000253251;ENST00000377153;ENST00000343090	T;T	0.61980	0.31;0.06	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	L	0.36672	1.1	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79108	0.992;0.986	T	0.74754	-0.3558	10	0.59425	D	0.04	-6.7824	18.6423	0.91399	0.0:0.0:1.0:0.0	.	16;16	O95155;O95155-2	UBE4B_HUMAN;.	P	16	ENSP00000253251:R16P;ENSP00000343001:R16P	ENSP00000253251:R16P	R	+	2	0	UBE4B	10054695	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.097000	0.94193	2.475000	0.83589	0.462000	0.41574	CGA	UBE4B	-	NULL	ENSG00000130939		0.547	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	-	0	35	0	G	NM_006048		10132108	1	tier1	-	no_errors	ENST00000343090	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	C	C	10132108	G	C	10132108	3	2	146	1	0	0	0	0	1	0	0	0	16932	1058	37	5	53	5	UBE4B	1	10132108	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09		10132108	239118513	1	37043											
PADI3	51702	genome.wustl.edu	37	chr1	17592157	17592157	+	Missense_Mutation	SNP	T	T	C	0	1	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	tctgcctcctcttgcagacaTctctctggattgcgacctga	6	13	8	14	1	4	2	0	1	4	1	6	4	5	3	3	1	3	1	3	1	0	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:17592157T>C	ENST00000375460.3	+	4	390	c.350T>C	c.(349-351)aTc>aCc	p.I117T		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	117					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTTGCAGACATCTCTCTGGAT	0.562																																																	0													173	154	161					1																	17592157		2203	4300	6503	SO:0001583	missense	0			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.350T>C	1.37:g.17592157T>C	ENSP00000364609:p.Ile117Thr		Q58EY7|Q70SX5	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.I117T	ENST00000375460.3	37	c.350	CCDS179.1	1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.272174	0.59649	.	.	ENSG00000142619	ENST00000375460	T	0.26660	1.72	5.4	5.4	0.78164	Protein-arginine deiminase (PAD), central domain (2);	0.107337	0.64402	D	0.000008	T	0.53351	0.1791	M	0.86502	2.82	0.46222	D	0.998931	D	0.61697	0.99	P	0.62491	0.903	T	0.61700	-0.7009	10	0.62326	D	0.03	-21.3772	14.2564	0.66055	0.0:0.0:0.0:1.0	.	117	Q9ULW8	PADI3_HUMAN	T	117	ENSP00000364609:I117T	ENSP00000364609:I117T	I	+	2	0	PADI3	17464744	1.000000	0.71417	0.641000	0.29422	0.465000	0.32709	5.589000	0.67523	2.044000	0.60594	0.533000	0.62120	ATC	PADI3	-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub	ENSG00000142619		0.562	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	-	0	49	0	T			17592157	1	tier1	-	no_errors	ENST00000375460	ensembl	human	known	74_37	missense	33.33	38	19	SNP	1.000	C	C	17592157	T	C	17592157	3	2	146	1	0	0	0	0	1	0	0	0	11418	1435	50	4	364	4	PADI3	1	17592157	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	7460049	17592157	231658464	2	37044											
UBR4	23352	genome.wustl.edu	37	chr1	19510612	19510612	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcggataaaattgttccGagagttcagcatggaagagg	12	11	13	5	2	1	2	1	0	0	2	3	5	2	4	1	3	1	4	1	3	3	5	rs545822812		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:19510612G>T	ENST00000375254.3	-	16	2023	c.1996C>A	c.(1996-1998)Cgg>Agg	p.R666R	UBR4_ENST00000375226.2_Silent_p.R666R|UBR4_ENST00000375217.2_Silent_p.R666R|UBR4_ENST00000375267.2_Silent_p.R666R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	666					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)	p.R666W(1)		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)		AAATTGTTCCGAGAGTTCAGC	0.423																																																	1	Substitution - Missense(1)	large_intestine(1)											108	105	106					1																	19510612		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1996C>A	1.37:g.19510612G>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R666	ENST00000375254.3	37	c.1996	CCDS189.1	1																																																																																			UBR4	-	NULL	ENSG00000127481		0.423	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1		0	18	0	G	NM_020765		19510612	-1			no_errors	ENST00000375267	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	T	T	19510612	G	T	19510612	2	4	146	1	0	0	0	0	0	0	0	1	16953	1057	37	2		2	UBR4	1	19510612	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1918455	19510612	229740009	3	37045											
CLIC4	25932	genome.wustl.edu	37	chr1	25167367	25167367	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggacgagttcaccaatacctGtcccagtgataaggaggttg	11	9	12	9	1	1	1	1	1	0	0	2	4	2	3	3	3	1	2	3	3	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:25167367G>T	ENST00000374379.4	+	6	898	c.701G>T	c.(700-702)tGt>tTt	p.C234F		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	234	GST C-terminal.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		ACCAATACCTGTCCCAGTGAT	0.403																																																	0													131	121	124					1																	25167367		2203	4300	6503	SO:0001583	missense	0			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.701G>T	1.37:g.25167367G>T	ENSP00000363500:p.Cys234Phe		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.C234F	ENST00000374379.4	37	c.701	CCDS256.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777240	0.90195	.	.	ENSG00000169504	ENST00000374379	D	0.94232	-3.38	5.86	5.86	0.93980	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.042342	0.85682	D	0.000000	D	0.97879	0.9303	H	0.94925	3.6	0.53688	D	0.999974	P;D	0.89917	0.685;1.0	B;D	0.87578	0.383;0.998	D	0.98156	1.0444	10	0.66056	D	0.02	-7.9205	20.1931	0.98233	0.0:0.0:1.0:0.0	.	214;234	B3KTR3;Q9Y696	.;CLIC4_HUMAN	F	234	ENSP00000363500:C234F	ENSP00000363500:C234F	C	+	2	0	CLIC4	25039954	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.771000	0.95319	0.563000	0.77884	TGT	CLIC4	-	superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel	ENSG00000169504		0.403	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC4	HGNC	protein_coding	OTTHUMT00000009332.1	-	0	40	0	G	NM_013943		25167367	1	tier1	-	no_errors	ENST00000374379	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	25167367	G	T	25167367	3	4	146	1	0	0	0	0	1	0	0	0	3535	1377	48	3	723	3	CLIC4	1	25167367	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	5656755	25167367	224083254	4	37046											
DAB1	1600	genome.wustl.edu	37	chr1	57538009	57538009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcccttccttcccacaaaCatatccaaaggcccggtgat	11	10	5	15	1	0	1	0	1	0	0	4	1	4	1	5	2	1	0	5	2	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:57538009C>T	ENST00000371231.1	-	4	419	c.385G>A	c.(385-387)Gtt>Att	p.V129I	DAB1_ENST00000371234.4_Missense_Mutation_p.V129I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.V129I|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371236.2_Missense_Mutation_p.V129I|DAB1_ENST00000420954.2_Missense_Mutation_p.V129I|DAB1_ENST00000371230.1_Missense_Mutation_p.V129I			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	129	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						TTCCCACAAACATATCCAAAG	0.458																																																	0													134	128	130					1																	57538009		2203	4300	6503	SO:0001583	missense	0			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.385G>A	1.37:g.57538009C>T	ENSP00000360275:p.Val129Ile		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.V129I	ENST00000371231.1	37	c.385		1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131288	0.77549	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000371231;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.84	5.84	0.93424	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.054356	0.64402	D	0.000001	T	0.57666	0.2069	N	0.20986	0.625	0.80722	D	1	D;B;B;B	0.76494	0.999;0.01;0.195;0.002	D;B;P;B	0.79784	0.993;0.025;0.451;0.008	T	0.45220	-0.9276	10	0.05959	T	0.93	-9.5662	20.1466	0.98079	0.0:1.0:0.0:0.0	.	129;129;129;129	O75553-4;O75553;O75553-6;O75553-5	.;DAB1_HUMAN;.;.	I	129	ENSP00000360280:V129I;ENSP00000360278:V129I;ENSP00000395296:V129I;ENSP00000387581:V129I;ENSP00000360275:V129I;ENSP00000329120:V129I;ENSP00000360274:V129I	ENSP00000329120:V129I	V	-	1	0	DAB1	57310597	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.765000	0.68834	2.779000	0.95612	0.591000	0.81541	GTT	DAB1	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000173406		0.458	DAB1-010	KNOWN	basic	protein_coding	DAB1	HGNC	protein_coding	OTTHUMT00000027962.1	-	0	65	0	C	NM_021080		57538009	-1	tier1	-	no_errors	ENST00000371231	ensembl	human	known	74_37	missense	9.90	91	10	SNP	1.000	T	T	57538009	C	T	57538009	3	4	146	1	0	0	0	0	1	0	0	0	4226	478	17	3	1322	3	DAB1	1	57538009	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	32370642	57538009	191712612	5	37047											
C1orf173	127254	genome.wustl.edu	37	chr1	75072384	75072384	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttaccacttctttgagccCtgtttttatttcttgagctg	6	19	7	9	0	2	2	0	2	2	0	2	2	2	2	2	0	3	3	2	0	2	8			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:75072384C>A	ENST00000326665.5	-	10	1608	c.1390G>T	c.(1390-1392)Ggg>Tgg	p.G464W	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.G267W	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		464	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						TCTTTGAGCCCTGTTTTTATT	0.383																																																	0													172	174	174					1																	75072384		2203	4299	6502	SO:0001583	missense	0																														ENST00000326665.5:c.1390G>T	1.37:g.75072384C>A	ENSP00000322609:p.Gly464Trp		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.G464W	ENST00000326665.5	37	c.1390	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048541	0.36181	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19250	2.63;2.16	4.07	1.15	0.20763	.	.	.	.	.	T	0.16896	0.0406	L	0.48642	1.525	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.971;0.983	T	0.06180	-1.0841	9	0.72032	D	0.01	-0.134	2.7105	0.05174	0.132:0.4436:0.2589:0.1654	.	267;464	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	W	464;267	ENSP00000322609:G464W;ENSP00000398581:G267W	ENSP00000322609:G464W	G	-	1	0	C1orf173	74844972	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.918000	0.28678	0.275000	0.22094	0.655000	0.94253	GGG	C1orf173	-	NULL	ENSG00000178965		0.383	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0	37	0	C			75072384	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	21.74	36	10	SNP	0.000	A	A	75072384	C	A	75072384	3	1	146	1	0	0	0	0	1	0	0	0	2021	681	24	3	3222	3	C1orf173	1	75072384	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	17534375	75072384	174178237	6	37048											
LPHN2	23266	genome.wustl.edu	37	chr1	82409086	82409086	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggtttatgggtcatttaCgccactgaacagaacaatgg	13	11	10	7	1	1	2	1	1	0	1	1	2	1	2	1	3	3	1	1	3	6	4	rs375748710		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:82409086C>A	ENST00000370728.1	+	8	1476	c.831C>A	c.(829-831)taC>taA	p.Y277*	LPHN2_ENST00000271029.4_Nonsense_Mutation_p.Y277*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.Y277*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.Y281*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.Y277*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.Y277*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.Y277*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.Y277*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.Y277*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.Y277*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.Y277*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.Y277*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.Y277*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.Y277*			O95490	LPHN2_HUMAN	latrophilin 2	277	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGGTCATTTACGCCACTGAAC	0.423																																																	0													142	133	136					1																	82409086		2203	4300	6503	SO:0001587	stop_gained	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.831C>A	1.37:g.82409086C>A	ENSP00000359763:p.Tyr277*		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.Y277*	ENST00000370728.1	37	c.831		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	42|42	9.382907|9.382907	0.99155|0.99155	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.	.|.	.|.	5.52|5.52	0.473|0.473	0.16763|0.16763	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.08088|.	0.0202|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34453|.	-0.9828|.	3|.	.|0.02654	.|T	.|1	.|.	10.3562|10.3562	0.43964|0.43964	0.0:0.3219:0.0:0.6781|0.0:0.3219:0.0:0.6781	.|.	.|.	.|.	.|.	K|X	145|281;277;277;277;277;277;277;277;277;277;277;277;277;277	.|.	.|ENSP00000271029:Y277X	T|Y	+|+	2|3	0|2	LPHN2|LPHN2	82181674|82181674	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.968000|0.968000	0.65278|0.65278	0.853000|0.853000	0.27777|0.27777	-0.461000|-0.461000	0.06993|0.06993	-0.556000|-0.556000	0.04195|0.04195	ACG|TAC	LPHN2	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000117114		0.423	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	-	0	15	0	C	NM_012302		82409086	1	tier1	-	no_errors	ENST00000370717	ensembl	human	known	74_37	nonsense	14.81	23	4	SNP	1.000	A	A	82409086	C	A	82409086	4	1	146	1	0	0	0	0	0	1	0	0	8951	547	19	2	845	2	LPHN2	1	82409086	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	7336702	82409086	166841535	7	37049											
GJA8	2703	genome.wustl.edu	37	chr1	147380796	147380796	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atccggtctgccttgaagagGcctgtagagcagcccctggg	7	8	14	12	1	1	3	0	1	1	2	2	3	2	3	5	3	3	2	5	3	2	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:147380796G>A	ENST00000369235.1	+	1	714	c.714G>A	c.(712-714)agG>agA	p.R238R	GJA8_ENST00000240986.4_Silent_p.R238R			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	238					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCTTGAAGAGGCCTGTAGAGC	0.557																																					Melanoma(76;1255 1795 8195 52096)												0													69	65	66					1																	147380796		2203	4300	6503	SO:0001819	synonymous_variant	0			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.714G>A	1.37:g.147380796G>A			A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50	p.R238	ENST00000369235.1	37	c.714	CCDS30834.1	1																																																																																			GJA8	-	NULL	ENSG00000121634		0.557	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA8	HGNC	protein_coding	OTTHUMT00000060647.1	-	0	38	0	G	NM_005267		147380796	1	tier1	-	no_errors	ENST00000240986	ensembl	human	known	74_37	silent	21.05	45	12	SNP	1.000	A	A	147380796	G	A	147380796	2	1	146	1	0	0	0	0	0	0	0	1	6431	1194	42	3		3	GJA8	1	147380796	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	64971710	147380796	101869825	8	37050											
UBAP2L	9898	genome.wustl.edu	37	chr1	154241426	154241426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatcacctgcagcaggatgGccaggtaatagcccttcccc	9	7	9	16	0	1	0	1	0	0	0	2	1	2	1	6	3	3	3	6	3	2	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:154241426G>T	ENST00000361546.2	+	25	3206	c.3164G>T	c.(3163-3165)gGc>gTc	p.G1055V	UBAP2L_ENST00000428931.1_Missense_Mutation_p.G1055V|UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000271877.7_Missense_Mutation_p.G1065V			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	1055					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.G551V(1)|p.G1055V(1)		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)			CAGCAGGATGGCCAGGTAATA	0.547																																																	2	Substitution - Missense(2)	lung(2)											110	102	105					1																	154241426		2203	4300	6503	SO:0001583	missense	0			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.3164G>T	1.37:g.154241426G>T	ENSP00000355343:p.Gly1055Val		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.G1055V	ENST00000361546.2	37	c.3164	CCDS1063.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.84|15.84	2.951729|2.951729	0.53186|0.53186	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546|ENST00000433615;ENST00000428595	T;T;T|.	0.39997|.	1.05;1.05;1.05|.	5.73|5.73	4.82|4.82	0.62117|0.62117	.|.	0.060939|.	0.64402|.	D|.	0.000004|.	T|T	0.47507|0.47507	0.1449|0.1449	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.76494|.	0.959;0.997;0.875;0.999|.	P;P;B;D|.	0.72625|.	0.58;0.852;0.362;0.978|.	T|T	0.50127|0.50127	-0.8864|-0.8864	10|5	0.87932|.	D|.	0|.	-2.0338|-2.0338	9.2134|9.2134	0.37333|0.37333	0.0778:0.1458:0.7764:0.0|0.0778:0.1458:0.7764:0.0	.|.	1065;551;1055;1055|.	F8W726;C9JD99;Q14157-3;Q14157|.	.;.;.;UBP2L_HUMAN|.	V|C	1055;551;551;1065;1055|385;333	ENSP00000389445:G1055V;ENSP00000271877:G1065V;ENSP00000355343:G1055V|.	ENSP00000271877:G1065V|.	G|W	+|+	2|3	0|0	UBAP2L|UBAP2L	152508050|152508050	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.461000|7.461000	0.80834|0.80834	1.434000|1.434000	0.47414|0.47414	0.467000|0.467000	0.42956|0.42956	GGC|TGG	UBAP2L	-	NULL	ENSG00000143569		0.547	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1		0	38	0	G	NM_014847		154241426	1			no_errors	ENST00000361546	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	154241426	G	T	154241426	3	4	146	1	0	0	0	0	1	0	0	0	16887	1203	42	3	3316	3	UBAP2L	1	154241426	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	6860630	154241426	95009195	9	37051											
FLAD1	80308	genome.wustl.edu	37	chr1	154960625	154960625	+	Silent	SNP	G	G	T	0	0	1	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	ttctttctgtgccggacactGcgctccctaggggtccaggt	4	12	12	13	2	2	0	0	0	2	0	4	1	4	1	3	4	2	1	3	4	1	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:154960625G>T	ENST00000292180.3	+	2	739	c.417G>T	c.(415-417)ctG>ctT	p.L139L	FLAD1_ENST00000368433.1_Silent_p.L139L|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000315144.10_Silent_p.L42L|FLAD1_ENST00000405236.2_Silent_p.L40L|FLAD1_ENST00000368431.3_Silent_p.L40L|FLAD1_ENST00000368432.1_Silent_p.L42L|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000295530.2_5'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	139	Molybdenum cofactor biosynthesis protein- like.				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)			GCCGGACACTGCGCTCCCTAG	0.567																																																	0													177	157	164					1																	154960625		2203	4300	6503	SO:0001819	synonymous_variant	0				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.417G>T	1.37:g.154960625G>T			Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Silent	SNP	pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom	p.L40	ENST00000292180.3	37	c.120	CCDS1078.1	1																																																																																			FLAD1	-	pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom	ENSG00000160688		0.567	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	-	0	53	0	G	NM_025207		154960625	1	tier1	-	no_errors	ENST00000405236	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T	T	154960625	G	T	154960625	2	4	146	1	0	0	0	0	0	0	0	1	5942	1306	46	3		3	FLAD1	1	154960625	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	719199	154960625	94289996	10	37052											
PEAR1	375033	genome.wustl.edu	37	chr1	156882694	156882694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcattggctatcggcactGgcaaaaaggcaaggagcacc	12	7	12	10	1	1	0	1	0	0	0	2	1	1	1	1	5	1	6	1	5	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:156882694G>T	ENST00000338302.3	+	19	2567	c.2342G>T	c.(2341-2343)tGg>tTg	p.W781L	PEAR1_ENST00000292357.7_Missense_Mutation_p.W781L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	781					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)					TATCGGCACTGGCAAAAAGGC	0.602																																																	0													105	106	105					1																	156882694		2203	4300	6503	SO:0001583	missense	0			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.2342G>T	1.37:g.156882694G>T	ENSP00000344465:p.Trp781Leu		Q8TEK2	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.W781L	ENST00000338302.3	37	c.2342	CCDS30892.1	1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.959136	0.53400	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.88277	-2.36;-2.36	5.23	5.23	0.72850	.	0.000000	0.45126	D	0.000386	T	0.73682	0.3618	L	0.51422	1.61	0.36052	D	0.84083	B	0.06786	0.001	B	0.04013	0.001	T	0.63853	-0.6543	10	0.09843	T	0.71	.	9.6738	0.40028	0.0921:0.0:0.9079:0.0	.	781	Q5VY43	PEAR1_HUMAN	L	781	ENSP00000344465:W781L;ENSP00000292357:W781L	ENSP00000292357:W781L	W	+	2	0	PEAR1	155149318	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	8.305000	0.89960	2.717000	0.92951	0.563000	0.77884	TGG	PEAR1	-	NULL	ENSG00000187800		0.602	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2	-	0	30	0	G	NM_001080471		156882694	1	tier1	-	no_errors	ENST00000292357	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.999	T	T	156882694	G	T	156882694	3	4	146	1	0	0	0	0	1	0	0	0	11751	1357	47	3	2408	3	PEAR1	1	156882694	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1922069	156882694	92367927	11	37053											
OR10Z1	128368	genome.wustl.edu	37	chr1	158576639	158576639	+	Missense_Mutation	SNP	T	T	G	0	1	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	cactatgccagccacatgaaTcctaccctctgtgcccagct	9	9	6	17	0	1	1	0	1	1	0	2	1	2	1	5	0	5	1	5	0	3	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:158576639T>G	ENST00000361284.1	+	1	411	c.411T>G	c.(409-411)aaT>aaG	p.N137K		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	137						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)					GCCACATGAATCCTACCCTCT	0.512																																																	0													94	94	94					1																	158576639		2203	4300	6503	SO:0001583	missense	0			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.411T>G	1.37:g.158576639T>G	ENSP00000354707:p.Asn137Lys		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N137K	ENST00000361284.1	37	c.411	CCDS30901.1	1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.275701	0.23307	.	.	ENSG00000198967	ENST00000361284	T	0.36878	1.23	5.3	0.418	0.16429	GPCR, rhodopsin-like superfamily (1);	0.896444	0.09352	N	0.813964	T	0.15739	0.0379	M	0.62266	1.93	0.09310	N	1	B	0.20459	0.045	B	0.20184	0.028	T	0.40021	-0.9585	10	0.72032	D	0.01	.	5.6692	0.17713	0.0:0.447:0.1724:0.3806	.	137	Q8NGY1	O10Z1_HUMAN	K	137	ENSP00000354707:N137K	ENSP00000354707:N137K	N	+	3	2	OR10Z1	156843263	0.000000	0.05858	0.042000	0.18584	0.807000	0.45602	-0.550000	0.06034	0.142000	0.18901	0.533000	0.62120	AAT	OR10Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000198967		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0	27	0	T	NM_001004478		158576639	1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	missense	19.51	33	8	SNP	0.000	G	G	158576639	T	G	158576639	3	3	146	1	0	0	0	0	1	0	0	0	10962	1432	50	4	413	4	OR10Z1	1	158576639	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	1693945	158576639	90673982	12	37054											
PBX1	5087	genome.wustl.edu	37	chr1	164768988	164768988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcgagagcaaagccGgaccaggcccatctccccaa	10	5	9	17	2	2	1	0	0	2	1	4	3	2	2	6	2	3	1	6	2	2	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:164768988G>T	ENST00000420696.2	+	4	751	c.563G>T	c.(562-564)cGg>cTg	p.R188L	PBX1_ENST00000559240.1_Missense_Mutation_p.R188L|PBX1_ENST00000560641.1_Missense_Mutation_p.R83L|PBX1_ENST00000540246.1_Missense_Mutation_p.R83L|PBX1_ENST00000367897.1_Missense_Mutation_p.R188L|PBX1_ENST00000540236.1_Missense_Mutation_p.R188L|PBX1_ENST00000401534.1_Missense_Mutation_p.R188L	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	188					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						GAGCAAAGCCGGACCAGGCCC	0.567			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																			Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"L, M"	0													95	82	86					1																	164768988		2203	4300	6503	SO:0001583	missense	0			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.563G>T	1.37:g.164768988G>T	ENSP00000405890:p.Arg188Leu		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R188L	ENST00000420696.2	37	c.563	CCDS1246.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.525358	0.96431	.	.	ENSG00000185630	ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.76	5.76	0.90799	PBX (1);	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	M	0.85299	2.745	0.80722	D	1	P;D;D;D;D	0.69078	0.887;0.989;0.973;0.997;0.978	P;D;P;D;P	0.74348	0.73;0.963;0.875;0.983;0.898	T	0.65010	-0.6272	10	0.62326	D	0.03	-13.2983	19.571	0.95419	0.0:0.0:1.0:0.0	.	83;188;188;188;188	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	L	188;188;188;188;83	ENSP00000405890:R188L;ENSP00000356872:R188L;ENSP00000439943:R188L;ENSP00000384856:R188L;ENSP00000440869:R83L	ENSP00000356872:R188L	R	+	2	0	PBX1	163035612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.338000	0.96553	2.713000	0.92767	0.655000	0.94253	CGG	PBX1	-	pfam_PBX	ENSG00000185630		0.567	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4		0	27	0	G	NM_002585		164768988	1			no_errors	ENST00000420696	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	164768988	G	T	164768988	3	4	146	1	0	0	0	0	1	0	0	0	11531	1116	39	2	577	2	PBX1	1	164768988	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	6192349	164768988	84481633	13	37055											
METTL13	51603	genome.wustl.edu	37	chr1	171752987	171752987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgtcatcaagcaaatGaaggaatgtaatgccacccg	14	8	11	8	1	2	1	2	1	0	0	2	3	2	2	2	2	2	3	2	2	5	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:171752987G>T	ENST00000361735.3	+	2	527	c.261G>T	c.(259-261)atG>atT	p.M87I	METTL13_ENST00000362019.3_Start_Codon_SNP_p.M1I|METTL13_ENST00000367737.5_Missense_Mutation_p.M87I|METTL13_ENST00000458517.1_Missense_Mutation_p.M86I	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	87							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TCAAGCAAATGAAGGAATGTA	0.493																																																	0													163	148	153					1																	171752987		2203	4300	6503	SO:0001583	missense	0			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.261G>T	1.37:g.171752987G>T	ENSP00000354920:p.Met87Ile		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.M87I	ENST00000361735.3	37	c.261	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232560	0.58777	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.62788	1.02;1.39;0.0;1.02;1.02	5.02	5.02	0.67125	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	T	0.80586	0.4651	M	0.90252	3.1	0.80722	D	1	B;D;B	0.61080	0.372;0.989;0.213	B;D;B	0.72982	0.29;0.979;0.224	D	0.85262	0.1051	10	0.87932	D	0	-24.2449	17.9252	0.88982	0.0:0.0:1.0:0.0	.	86;87;87	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	I	86;1;87;87;4;1	ENSP00000401955:M86I;ENSP00000355393:M1I;ENSP00000356711:M87I;ENSP00000354920:M87I;ENSP00000356710:M4I	ENSP00000341732:M1I	M	+	3	0	METTL13	170019610	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.457000	0.80775	2.287000	0.76781	0.655000	0.94253	ATG	METTL13	-	pfam_Methyltransf_11	ENSG00000010165		0.493	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	-	0	53	0	G	NM_014955		171752987	1	tier1	-	no_errors	ENST00000361735	ensembl	human	known	74_37	missense	15.53	87	16	SNP	1.000	T	T	171752987	G	T	171752987	3	4	146	1	0	0	0	0	1	0	0	0	9535	1290	45	3	267	3	METTL13	1	171752987	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	6983999	171752987	77497634	14	37056											
RC3H1	149041	genome.wustl.edu	37	chr1	173933252	173933252	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaggcattggaggcagatCtgctggcccccttggaggta	9	8	14	10	0	1	1	0	0	1	1	1	3	1	3	2	6	2	4	2	6	2	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:173933252C>G	ENST00000367696.2	-	11	2041	c.1690G>C	c.(1690-1692)Gat>Cat	p.D564H	RC3H1_ENST00000367694.2_Missense_Mutation_p.D564H|RC3H1_ENST00000258349.4_Missense_Mutation_p.D564H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	564	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGAGGCAGATCTGCTGGCCCC	0.443																																																	0													119	116	117					1																	173933252		2203	4300	6503	SO:0001583	missense	0			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.1690G>C	1.37:g.173933252C>G	ENSP00000356669:p.Asp564His		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.D564H	ENST00000367696.2	37	c.1690	CCDS30940.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357352	0.82243	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.47177	0.85;0.85;0.85	5.86	5.86	0.93980	.	0.325326	0.32190	N	0.006459	T	0.45955	0.1368	L	0.44542	1.39	0.80722	D	1	P;P;P;P	0.48764	0.862;0.862;0.915;0.862	B;B;P;B	0.50659	0.445;0.445;0.647;0.445	T	0.33803	-0.9854	10	0.49607	T	0.09	-5.3776	20.1859	0.98214	0.0:1.0:0.0:0.0	.	564;564;564;564	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	564	ENSP00000356669:D564H;ENSP00000258349:D564H;ENSP00000356667:D564H	ENSP00000258349:D564H	D	-	1	0	RC3H1	172199875	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.486000	0.66856	2.777000	0.95525	0.591000	0.81541	GAT	RC3H1	-	NULL	ENSG00000135870		0.443	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2	-	0	68	0	C	NM_172071		173933252	-1	tier1	-	no_errors	ENST00000258349	ensembl	human	known	74_37	missense	20.14	111	28	SNP	1.000	G	G	173933252	C	G	173933252	3	3	146	1	0	0	0	0	1	0	0	0	13211	913	32	5	1751	5	RC3H1	1	173933252	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	2180265	173933252	75317369	15	37057											
PAPPA2	60676	genome.wustl.edu	37	chr1	176564298	176564298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaatggatactggccccttCggggagagaaggtgatacgc	11	7	14	9	2	0	2	0	1	0	1	1	5	0	4	2	5	2	0	2	5	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:176564298C>T	ENST00000367662.3	+	3	2722	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R520W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	520	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R520G(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGCCCCTTCGGGGAGAGAA	0.537																																																	2	Substitution - Missense(2)	lung(2)											51	52	51					1																	176564298		2003	4172	6175	SO:0001583	missense	0			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.1558C>T	1.37:g.176564298C>T	ENSP00000356634:p.Arg520Trp		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.R520W	ENST00000367662.3	37	c.1558	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886360	0.33348	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.58506	0.33;0.33	5.24	4.24	0.50183	.	0.325968	0.32785	N	0.005642	T	0.70640	0.3247	M	0.68952	2.095	0.36330	D	0.858822	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.948	T	0.77419	-0.2595	10	0.87932	D	0	-14.6877	9.8148	0.40846	0.1505:0.7702:0.0:0.0793	.	520;520	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	W	520	ENSP00000356634:R520W;ENSP00000356633:R520W	ENSP00000356633:R520W	R	+	1	2	PAPPA2	174830921	0.967000	0.33354	0.684000	0.30055	0.067000	0.16453	2.019000	0.41001	2.439000	0.82584	0.650000	0.86243	CGG	PAPPA2	-	NULL	ENSG00000116183		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1		0	44	0	C			176564298	1			no_errors	ENST00000367662	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.662	T	T	176564298	C	T	176564298	3	4	146	1	0	0	0	0	1	0	0	0	11472	875	31	1	1564	1	PAPPA2	1	176564298	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	2631046	176564298	72686323	16	37058											
FAM129A	116496	genome.wustl.edu	37	chr1	184764681	184764681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcattttcttggggaacGtggctctccccattcgtatc	5	16	8	12	2	4	0	1	0	3	0	7	1	4	1	2	3	1	2	2	3	2	6	rs35545276	byFrequency	TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:184764681G>T	ENST00000367511.3	-	14	2410	c.2217C>A	c.(2215-2217)caC>caA	p.H739Q	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	739	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTTGGGGAACGTGGCTCTCCC	0.532																																																	0													127	135	132					1																	184764681		2203	4300	6503	SO:0001583	missense	0			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2217C>A	1.37:g.184764681G>T	ENSP00000356481:p.His739Gln		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NULL	p.H739Q	ENST00000367511.3	37	c.2217	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	G	7.537	0.659871	0.14645	.	.	ENSG00000135842	ENST00000367511	T	0.09163	3.01	5.44	-5.59	0.02505	.	2.525960	0.01511	N	0.017944	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	10	0.13108	T	0.6	0.297	9.4901	0.38953	0.3787:0.4809:0.1404:0.0	.	739	Q9BZQ8	NIBAN_HUMAN	Q	739	ENSP00000356481:H739Q	ENSP00000356481:H739Q	H	-	3	2	FAM129A	183031304	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.224000	0.02959	-0.570000	0.06022	-0.658000	0.03865	CAC	FAM129A	-	NULL	ENSG00000135842		0.532	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1		0	22	0	G			184764681	-1			no_errors	ENST00000367511	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	T	T	184764681	G	T	184764681	3	4	146	1	0	0	0	0	1	0	0	0	5455	1136	40	2	573	2	FAM129A	1	184764681	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	8200383	184764681	64485940	17	37059											
HMCN1	83872	genome.wustl.edu	37	chr1	185951416	185951416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctccacttattggaatcagCccttcagtggccaatgttat	9	13	8	11	0	2	0	2	0	0	0	3	1	3	1	3	2	1	2	3	2	4	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:185951416C>G	ENST00000271588.4	+	18	2914	c.2685C>G	c.(2683-2685)agC>agG	p.S895R	HMCN1_ENST00000367492.2_Missense_Mutation_p.S895R|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	895	Ig-like C2-type 6.				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						TTGGAATCAGCCCTTCAGTGG	0.453																																																	0													190	181	184					1																	185951416		2203	4300	6503	SO:0001583	missense	0			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.2685C>G	1.37:g.185951416C>G	ENSP00000271588:p.Ser895Arg		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.S895R	ENST00000271588.4	37	c.2685	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189968	0.38707	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66815	-0.23;-0.23	5.05	0.741	0.18336	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.042903	0.85682	D	0.000000	T	0.57403	0.2051	N	0.20986	0.625	0.52501	D	0.99995	B;D	0.53462	0.137;0.96	B;P	0.58077	0.232;0.832	T	0.51434	-0.8706	10	0.21014	T	0.42	.	5.1095	0.14802	0.1324:0.5793:0.0:0.2883	.	279;895	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	R	895	ENSP00000271588:S895R;ENSP00000356462:S895R	ENSP00000271588:S895R	S	+	3	2	HMCN1	184218039	0.996000	0.38824	0.995000	0.50966	0.906000	0.53458	0.374000	0.20501	0.253000	0.21552	-0.766000	0.03442	AGC	HMCN1	-	pfam_Ig_I-set,pfscan_Ig-like_dom	ENSG00000143341		0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	53	0	C	NM_031935		185951416	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	G	G	185951416	C	G	185951416	3	3	146	1	0	0	0	0	1	0	0	0	7247	738	26	5	2755	5	HMCN1	1	185951416	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	1186735	185951416	63299205	18	37060											
CFH	3075	genome.wustl.edu	37	chr1	196695762	196695762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	atgtgttgatggagagtggaCaactttaccagtgtgtattg	10	14	13	4	0	0	2	0	1	0	1	0	4	0	3	1	2	2	2	1	2	3	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:196695762C>A	ENST00000367429.4	+	13	2276	c.2036C>A	c.(2035-2037)aCa>aAa	p.T679K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	679	Sushi 11. {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						GGAGAGTGGACAACTTTACCA	0.294																																																	0													84	86	85					1																	196695762		2203	4300	6503	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2036C>A	1.37:g.196695762C>A	ENSP00000356399:p.Thr679Lys		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.T679K	ENST00000367429.4	37	c.2036	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952531	0.53293	.	.	ENSG00000000971	ENST00000367429	T	0.68181	-0.31	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.81927	0.4926	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82606	-0.0374	9	0.51188	T	0.08	.	16.1841	0.81934	0.0:1.0:0.0:0.0	.	679	P08603	CFAH_HUMAN	K	679	ENSP00000356399:T679K	ENSP00000356399:T679K	T	+	2	0	CFH	194962385	0.992000	0.36948	0.989000	0.46669	0.127000	0.20565	2.753000	0.47524	2.605000	0.88082	0.460000	0.39030	ACA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.294	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	-	0	56	0	C	NM_000186		196695762	1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	missense	21.62	58	16	SNP	0.997	A	A	196695762	C	A	196695762	3	1	146	1	0	0	0	0	1	0	0	0	3290	478	17	3	2104	3	CFH	1	196695762	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	10744346	196695762	52554859	19	37061											
C1orf106	55765	genome.wustl.edu	37	chr1	200868725	200868725	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactctgccttcgggaagcGgtgaggccccagccagcaca	9	5	13	14	2	1	2	0	1	1	1	2	3	1	3	4	3	4	1	4	3	1	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:200868725G>T	ENST00000367342.4	+	3	635	c.435G>T	c.(433-435)gcG>gcT	p.A145A	C1orf106_ENST00000413687.2_Splice_Site_p.A60A	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	145										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TTCGGGAAGCGGTGAGGCCCC	0.642																																																	0													19	19	19					1																	200868725		2202	4300	6502	SO:0001630	splice_region_variant	0			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.435+1G>T	1.37:g.200868725G>T			B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	pfam_DUF3338	p.A145	ENST00000367342.4	37	c.435		1																																																																																			C1orf106	-	pfam_DUF3338	ENSG00000163362		0.642	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2		0	42	0	G	NM_018265	Silent	200868725	1			no_errors	ENST00000367342	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	T	T	200868725	G	T	200868725	5	4	146	1	0	0	0	0	0	0	1	0	1987	1130	39	2	445	2	C1orf106	1	200868725	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	4172963	200868725	48381896	20	37062											
CACNA1S	779	genome.wustl.edu	37	chr1	201047063	201047063	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggagcacggagatgcccagGggtgtcatggcacccgactc	8	5	15	13	3	1	1	1	0	0	1	2	4	1	2	2	5	2	2	2	5	0	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:201047063G>T	ENST00000362061.3	-	11	1789	c.1563C>A	c.(1561-1563)ccC>ccA	p.P521P	CACNA1S_ENST00000367338.3_Silent_p.P521P	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	521					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)	AGATGCCCAGGGGTGTCATGG	0.617																																																	0													78	62	67					1																	201047063		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1563C>A	1.37:g.201047063G>T			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.P521	ENST00000362061.3	37	c.1563	CCDS1407.1	1																																																																																			CACNA1S	-	pfam_Ion_trans_dom	ENSG00000081248		0.617	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1		0	57	0	G	NM_000069		201047063	-1			no_errors	ENST00000362061	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.985	T	T	201047063	G	T	201047063	2	4	146	1	0	0	0	0	0	0	0	1	2554	1219	43	3		3	CACNA1S	1	201047063	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	178338	201047063	48203558	21	37063											
MFSD4	148808	genome.wustl.edu	37	chr1	205555336	205555336	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatggttttcatcaacgtgGtaagcagctgaatagcctcc	10	11	9	11	1	2	1	2	1	0	0	3	1	3	1	3	2	4	4	3	2	4	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:205555336G>A	ENST00000367147.4	+	6	1242		c.e6+1		MFSD4_ENST00000539267.1_Splice_Site|MFSD4_ENST00000536357.1_Splice_Site	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CATCAACGTGGTAAGCAGCTG	0.582																																																	0													60	64	63					1																	205555336		2203	4300	6503	SO:0001630	splice_region_variant	0			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.1149+1G>A	1.37:g.205555336G>A			B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Splice_Site	SNP	-	e6+1	ENST00000367147.4	37	c.1149+1	CCDS1455.1	1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.621156	0.66787	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8038	0.88596	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFSD4	203821959	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	9.420000	0.97426	2.626000	0.88956	0.650000	0.86243	.	MFSD4	-	-	ENSG00000174514		0.582	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD4	HGNC	protein_coding	OTTHUMT00000090391.1	-	0	33	0	G	NM_181644	Intron	205555336	1	tier1	-	no_errors	ENST00000367147	ensembl	human	known	74_37	splice_site	9.30	38	4	SNP	1.000	A	A	205555336	G	A	205555336	5	1	146	1	0	0	0	0	0	0	1	0	9571	1275	44	3	1172	3	MFSD4	1	205555336	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	4508273	205555336	43695285	22	37064											
DTL	51514	genome.wustl.edu	37	chr1	212274230	212274230	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tccgtatgcttcagaaagctGtggaacgctacctcttcctt	8	13	8	12	2	2	1	1	0	1	1	4	2	4	2	3	1	4	4	3	1	4	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:212274230G>T	ENST00000366991.4	+	14	2212	c.1898G>T	c.(1897-1899)tGt>tTt	p.C633F	RN7SKP98_ENST00000517070.1_RNA|DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.C591F	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	633					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)		TCAGAAAGCTGTGGAACGCTA	0.468																																																	0													110	107	108					1																	212274230		2203	4300	6503	SO:0001583	missense	0			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.1898G>T	1.37:g.212274230G>T	ENSP00000355958:p.Cys633Phe		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C633F	ENST00000366991.4	37	c.1898	CCDS1502.1	1	.	.	.	.	.	.	.	.	.	.	G	6.303	0.423926	0.11928	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.69435	-0.32;-0.4	5.95	4.98	0.66077	.	0.263596	0.36134	N	0.002778	T	0.35885	0.0947	N	0.08118	0	0.36310	D	0.857592	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.43750	-0.9372	10	0.06757	T	0.87	-8.8484	3.7032	0.08390	0.085:0.1165:0.5139:0.2847	.	591;633;591	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	F	633;591;312	ENSP00000355958:C633F;ENSP00000443870:C591F	ENSP00000355958:C633F	C	+	2	0	DTL	210340853	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.762000	0.38451	2.824000	0.97209	0.655000	0.94253	TGT	DTL	-	NULL	ENSG00000143476		0.468	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTL	HGNC	protein_coding	OTTHUMT00000090182.1	-	0	64	0	G	NM_016448		212274230	1	tier1	-	no_errors	ENST00000366991	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.992	T	T	212274230	G	T	212274230	3	4	146	1	0	0	0	0	1	0	0	0	4801	1377	48	3	1952	3	DTL	1	212274230	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	6718894	212274230	36976391	23	37065											
KCNK2	3776	genome.wustl.edu	37	chr1	215408174	215408174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcttgtatgttccaggtgGgagagttcagagcacacgct	8	11	13	9	1	1	2	1	0	0	2	2	3	2	2	1	2	2	6	1	2	1	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:215408174G>A	ENST00000444842.2	+	7	1117	c.967G>A	c.(967-969)Gga>Aga	p.G323R	KCNK2_ENST00000391894.2_Missense_Mutation_p.G308R|KCNK2_ENST00000391895.2_Missense_Mutation_p.G319R	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	323					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GTTCCAGGTGGGAGAGTTCAG	0.413																																																	0													100	103	102					1																	215408174		2203	4300	6503	SO:0001583	missense	0			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.967G>A	1.37:g.215408174G>A	ENSP00000394033:p.Gly323Arg		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.G323R	ENST00000444842.2	37	c.967	CCDS41467.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499344	0.85069	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.22743	1.94;1.94;1.94	5.92	5.92	0.95590	.	0.000000	0.33075	U	0.005313	T	0.36744	0.0978	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.997;0.996;1.0	D;D;D	0.80764	0.972;0.939;0.994	T	0.01993	-1.1233	10	0.12103	T	0.63	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	308;323;319	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	R	319;308;323	ENSP00000375765:G319R;ENSP00000375764:G308R;ENSP00000394033:G323R	ENSP00000375764:G308R	G	+	1	0	KCNK2	213474797	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.869000	0.99810	2.813000	0.96785	0.561000	0.74099	GGA	KCNK2	-	prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl_TRAAK	ENSG00000082482		0.413	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	-	0	28	0	G	NM_014217		215408174	1	tier1	-	no_errors	ENST00000444842	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	215408174	G	A	215408174	3	1	146	1	0	0	0	0	1	0	0	0	8093	1233	43	3	1036	3	KCNK2	1	215408174	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	3133944	215408174	33842447	24	37066											
DUSP10	11221	genome.wustl.edu	37	chr1	221912479	221912479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccctgctgcagtctcCgccggctgatcttatcggca	4	12	10	15	3	3	1	0	1	3	0	5	1	3	1	3	2	3	4	3	2	1	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:221912479C>A	ENST00000366899.3	-	2	846	c.608G>T	c.(607-609)cGg>cTg	p.R203L	DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000468085.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	203	Interaction with MAP kinases.|Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R203Q(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTGCAGTCTCCGCCGGCTGAT	0.478																																																	1	Substitution - Missense(1)	prostate(1)											66	66	66					1																	221912479		2203	4300	6503	SO:0001583	missense	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.608G>T	1.37:g.221912479C>A	ENSP00000355866:p.Arg203Leu		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.R203L	ENST00000366899.3	37	c.608	CCDS1528.1	1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026441	0.54683	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.51325	0.71	5.44	4.53	0.55603	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.46814	0.1412	M	0.62723	1.935	0.80722	D	1	P	0.46457	0.878	B	0.41571	0.36	T	0.53287	-0.8460	10	0.87932	D	0	.	12.2604	0.54647	0.0:0.922:0.0:0.078	.	203	Q9Y6W6	DUS10_HUMAN	L	203;148	ENSP00000355866:R203L	ENSP00000355866:R203L	R	-	2	0	DUSP10	219979102	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.304000	0.44892	0.591000	0.81541	CGG	DUSP10	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MKP	ENSG00000143507		0.478	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0	29	0	C	NM_007207		221912479	-1			no_errors	ENST00000366899	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	221912479	C	A	221912479	3	1	146	1	0	0	0	0	1	0	0	0	4824	652	23	2	852	2	DUSP10	1	221912479	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	6504305	221912479	27338142	25	37067											
CAPN9	10753	genome.wustl.edu	37	chr1	230898516	230898516	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttctggagcgccttgctgGaaaaagcctacgccaagtga	11	8	12	10	2	1	1	0	1	1	0	1	3	1	3	3	2	4	2	3	2	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr1:230898516G>T	ENST00000271971.2	+	4	633	c.520G>T	c.(520-522)Gaa>Taa	p.E174*	CAPN9_ENST00000366666.2_Nonsense_Mutation_p.E111*|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Nonsense_Mutation_p.E174*	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	174	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CGCCTTGCTGGAAAAAGCCTA	0.582																																																	0													74	64	68					1																	230898516		2203	4300	6503	SO:0001587	stop_gained	0			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.520G>T	1.37:g.230898516G>T	ENSP00000271971:p.Glu174*		B1APS1|B1AQI0|Q9NS74	Nonsense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat	p.E174*	ENST00000271971.2	37	c.520	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.644100	0.98409	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0115	0.92875	0.0:0.0:1.0:0.0	.	.	.	.	X	174;174;111	.	ENSP00000271971:E174X	E	+	1	0	CAPN9	228965139	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.342000	0.97044	2.489000	0.83994	0.591000	0.81541	GAA	CAPN9	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat	ENSG00000135773		0.582	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	HGNC	protein_coding	OTTHUMT00000092179.1	-	0	31	0	G	NM_006615		230898516	1	tier1	-	no_errors	ENST00000271971	ensembl	human	known	74_37	nonsense	9.09	40	4	SNP	1.000	T	T	230898516	G	T	230898516	4	4	146	1	0	0	0	0	0	1	0	0	2639	1175	41	3	534	3	CAPN9	1	230898516	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	8986037	230898516	18352105	26	37068											
ADAM17	6868	genome.wustl.edu	37	chr2	9666349	9666349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgggatctgggtcagctCttcttttcactcgatgaaca	8	14	9	10	1	6	1	3	1	3	0	7	3	6	2	0	2	2	1	0	2	1	3	rs142946965		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:9666349C>G	ENST00000310823.3	-	6	826	c.644G>C	c.(643-645)aGa>aCa	p.R215T	ADAM17_ENST00000497134.1_Missense_Mutation_p.R215T	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	215					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)		TGGGTCAGCTCTTCTTTTCAC	0.373																																																	0													170	150	157					2																	9666349		2203	4300	6503	SO:0001583	missense	0			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.644G>C	2.37:g.9666349C>G	ENSP00000309968:p.Arg215Thr		O60226	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.R215T	ENST00000310823.3	37	c.644	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569895	0.45798	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.65916	1.92;-0.18	5.46	3.65	0.41850	.	0.080829	0.85682	D	0.000000	T	0.68165	0.2971	L	0.59436	1.845	0.46279	D	0.998963	P;P	0.49862	0.929;0.929	P;P	0.55161	0.77;0.77	T	0.66881	-0.5811	10	0.45353	T	0.12	.	11.2026	0.48749	0.0:0.8023:0.1284:0.0693	.	215;215	B2RNB2;P78536	.;ADA17_HUMAN	T	215	ENSP00000309968:R215T;ENSP00000418728:R215T	ENSP00000309968:R215T	R	-	2	0	ADAM17	9583800	1.000000	0.71417	0.800000	0.32199	0.974000	0.67602	3.024000	0.49674	0.773000	0.33404	0.585000	0.79938	AGA	ADAM17	-	NULL	ENSG00000151694		0.373	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	-	0	28	0	C			9666349	-1	tier1	-	no_errors	ENST00000310823	ensembl	human	known	74_37	missense	20.51	61	16	SNP	0.999	G	G	9666349	C	G	9666349	3	3	146	1	0	0	0	0	1	0	0	0	238	913	32	5	1886	5	ADAM17	2	9666349	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09		9666349	233533024	27	37069											
CAD	790	genome.wustl.edu	37	chr2	27461302	27461302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccattgttccccagatcCtgctaattaaagctgcaaag	11	12	6	12	0	0	1	0	0	0	1	3	1	3	1	4	0	3	4	4	0	4	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:27461302C>A	ENST00000403525.1	+	30	4819	c.4675C>A	c.(4675-4677)Ctg>Atg	p.L1559M	CAD_ENST00000264705.4_Missense_Mutation_p.L1622M			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCAGATCCTGCTAATTAA	0.552																																																	0													71	70	70					2																	27461302		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4675C>A	2.37:g.27461302C>A	ENSP00000384510:p.Leu1559Met		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.L1622M	ENST00000403525.1	37	c.4864		2	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148485	0.37923	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	T;T	0.47177	0.85;0.85	4.94	4.94	0.65067	.	0.071221	0.56097	D	0.000029	T	0.42539	0.1207	L	0.40543	1.245	0.41517	D	0.988373	B;B	0.28178	0.202;0.124	B;B	0.28139	0.086;0.055	T	0.38564	-0.9655	10	0.46703	T	0.11	-0.3993	16.753	0.85492	0.0:1.0:0.0:0.0	.	1559;1622	F8VPD4;P27708	.;PYR1_HUMAN	M	1622;1559	ENSP00000264705:L1622M;ENSP00000384510:L1559M	ENSP00000264705:L1622M	L	+	1	2	CAD	27314806	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	2.856000	0.48341	2.292000	0.77174	0.561000	0.74099	CTG	CAD	-	NULL	ENSG00000084774		0.552	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	-	0	41	0	C			27461302	1	tier1	-	no_errors	ENST00000264705	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	27461302	C	A	27461302	3	1	146	1	0	0	0	0	1	0	0	0	2572	680	24	3	4986	3	CAD	2	27461302	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	17794953	27461302	215738071	28	37070											
MSH6	2956	genome.wustl.edu	37	chr2	48026124	48026124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcatttcatcagaaaccaaGaatactttgagagctttctc	14	12	6	9	0	3	3	2	1	1	3	4	4	3	3	1	0	4	2	1	0	4	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:48026124G>C	ENST00000234420.5	+	4	1154	c.1002G>C	c.(1000-1002)aaG>aaC	p.K334N	MSH6_ENST00000540021.1_Missense_Mutation_p.K204N|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.K32N	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	334					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)			CAGAAACCAAGAATACTTTGA	0.458			"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)											132	139	137					2																	48026124		2203	4300	6503	SO:0001583	missense	0	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.1002G>C	2.37:g.48026124G>C	ENSP00000234420:p.Lys334Asn		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.K334N	ENST00000234420.5	37	c.1002	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854122	0.71719	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.88354	-1.98;-2.07;-2.37	4.41	3.53	0.40419	.	0.171885	0.50627	D	0.000110	D	0.86764	0.6011	M	0.70275	2.135	0.80722	D	1	P;B;B	0.41597	0.756;0.155;0.119	B;B;B	0.38985	0.287;0.194;0.185	D	0.84405	0.0562	10	0.31617	T	0.26	-11.7357	12.2044	0.54345	0.083:0.0:0.917:0.0	.	204;334;334	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	N	334;332;204;32	ENSP00000234420:K334N;ENSP00000446475:K204N;ENSP00000438580:K32N	ENSP00000234420:K334N	K	+	3	2	MSH6	47879628	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.385000	0.52485	1.076000	0.40961	0.655000	0.94253	AAG	MSH6	-	pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	-	0	54	0	G	NM_000179		48026124	1	tier1	-	no_errors	ENST00000234420	ensembl	human	known	74_37	missense	8.11	68	6	SNP	1.000	C	C	48026124	G	C	48026124	3	2	146	1	0	0	0	0	1	0	0	0	9912	933	33	5	1016	5	MSH6	2	48026124	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	20564822	48026124	195173249	29	37071											
FOXN2	3344	genome.wustl.edu	37	chr2	48573460	48573460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgggaagcttgcctgaagCtgttgatgctgccaggccga	9	9	14	9	1	0	2	0	2	0	0	0	4	0	3	3	2	5	4	3	2	3	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:48573460C>G	ENST00000340553.3	+	3	368	c.107C>G	c.(106-108)gCt>gGt	p.A36G		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	36					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)			TTGCCTGAAGCTGTTGATGCT	0.458																																																	0													114	116	115					2																	48573460		2203	4300	6503	SO:0001583	missense	0				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.107C>G	2.37:g.48573460C>G	ENSP00000343633:p.Ala36Gly		Q15769|Q6P4Q2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A36G	ENST00000340553.3	37	c.107	CCDS1838.1	2	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983531	0.53827	.	.	ENSG00000170802	ENST00000413569;ENST00000340553	D;D	0.95690	-3.78;-3.71	5.28	5.28	0.74379	.	0.051482	0.85682	D	0.000000	D	0.94470	0.8220	L	0.57536	1.79	0.58432	D	0.999999	D	0.56521	0.976	P	0.46885	0.53	D	0.93812	0.7111	10	0.46703	T	0.11	.	13.6342	0.62213	0.1549:0.8451:0.0:0.0	.	36	P32314	FOXN2_HUMAN	G	36	ENSP00000388486:A36G;ENSP00000343633:A36G	ENSP00000343633:A36G	A	+	2	0	FOXN2	48426964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.418000	0.52721	2.741000	0.93983	0.591000	0.81541	GCT	FOXN2	-	NULL	ENSG00000170802		0.458	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN2	HGNC	protein_coding	OTTHUMT00000251240.3		0	37	0	C	NM_002158		48573460	1			no_errors	ENST00000340553	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	G	G	48573460	C	G	48573460	3	3	146	1	0	0	0	0	1	0	0	0	6044	797	28	5	109	5	FOXN2	2	48573460	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	547336	48573460	194625913	30	37072											
GTF2A1L	11036	genome.wustl.edu	37	chr2	48906575	48906575	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	aaagccattggtgatgcagaGtggtaaaccttgtgagctca	12	10	12	7	0	1	3	1	2	0	1	1	3	1	3	2	2	4	3	2	2	3	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:48906575G>C	ENST00000403751.3	+	9	1468	c.1431G>C	c.(1429-1431)gaG>gaC	p.E477D	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E1134D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E1181D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E1181D|STON1-GTF2A1L_ENST00000402114.2_Intron|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.E443D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E1181D	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	477					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E1181D(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGATGCAGAGTGGTAAACCT	0.348																																																	1	Substitution - Missense(1)	lung(1)											163	146	152					2																	48906575		2203	4300	6503	SO:0001583	missense	0			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"TFIIA alpha/beta like factor"	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1431G>C	2.37:g.48906575G>C	ENSP00000384597:p.Glu477Asp		B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.E1181D	ENST00000403751.3	37	c.3543	CCDS46281.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937714	0.73557	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751	T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.79	3.05	0.35203	Transcription factor IIA, beta-barrel (2);	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.87827	2.91	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.861;0.986	D;D;P;D	0.83275	0.996;0.991;0.856;0.961	T	0.77757	-0.2468	10	0.87932	D	0	.	8.3723	0.32423	0.2968:0.0:0.7032:0.0	.	443;1134;477;1181	Q9UNN4-2;A8MXJ1;Q9UNN4;Q53S48	.;.;TF2AY_HUMAN;.	D	1181;1181;1181;1134;476;443;477	ENSP00000385499:E1181D;ENSP00000378236:E1181D;ENSP00000311493:E1181D;ENSP00000378234:E1134D;ENSP00000387896:E443D;ENSP00000384597:E477D	ENSP00000384597:E477D	E	+	3	2	STON1-GTF2A1L;GTF2A1L	48760079	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.001000	0.49488	0.371000	0.24564	-0.136000	0.14681	GAG	STON1-GTF2A1L	-	pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl	ENSG00000068781		0.348	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323852.4	-	0	56	0	G	NM_006872		48906575	1	tier1	-	no_errors	ENST00000309827	ensembl	human	known	74_37	missense	12.62	90	13	SNP	1.000	C	C	48906575	G	C	48906575	3	2	146	1	0	0	0	0	1	0	0	0	6880	1020	36	5	1465	5	GTF2A1L	2	48906575	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	333115	48906575	194292798	31	37073											
SEMA4F	10505	genome.wustl.edu	37	chr2	74901691	74901691	+	Missense_Mutation	SNP	T	T	A	0	1	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	ttttgaaagctgacctgctcTgtccagggcctgagcatggc	7	11	12	11	0	1	3	0	3	1	0	2	3	2	3	3	2	3	3	3	2	1	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:74901691T>A	ENST00000357877.2	+	8	1038	c.889T>A	c.(889-891)Tgt>Agt	p.C297S	SEMA4F_ENST00000339773.5_Missense_Mutation_p.C142S	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	297	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						TGACCTGCTCTGTCCAGGGCC	0.587																																																	0													97	96	97					2																	74901691		2203	4300	6503	SO:0001583	missense	0			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.889T>A	2.37:g.74901691T>A	ENSP00000350547:p.Cys297Ser		Q542Y7|Q9NS35	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.C297S	ENST00000357877.2	37	c.889	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059268	0.76074	.	.	ENSG00000135622	ENST00000357877;ENST00000339773;ENST00000453930	D;D;D	0.95482	-3.72;-3.72;-3.72	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.98093	0.9371	M	0.92923	3.36	0.51482	D	0.99992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99081	1.0837	10	0.87932	D	0	.	13.2471	0.60029	0.0:0.0:0.0:1.0	.	142;297	O95754-2;O95754	.;SEM4F_HUMAN	S	297;142;142	ENSP00000350547:C297S;ENSP00000342675:C142S;ENSP00000409141:C142S	ENSP00000342675:C142S	C	+	1	0	SEMA4F	74755199	1.000000	0.71417	0.946000	0.38457	0.820000	0.46376	7.599000	0.82757	2.025000	0.59659	0.240000	0.17902	TGT	SEMA4F	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000135622		0.587	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	-	0	25	0	T	NM_004263		74901691	1	tier1	-	no_errors	ENST00000357877	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	A	A	74901691	T	A	74901691	3	1	146	1	0	0	0	0	1	0	0	0	14080	1580	55	5	919	5	SEMA4F	2	74901691	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	25995116	74901691	168297682	32	37074											
TSGA10	80705	genome.wustl.edu	37	chr2	99720580	99720580	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctccatacgttcatcatcaAgctatacaagtagaatgaca	15	10	6	10	1	3	2	3	1	0	1	4	2	4	2	1	0	3	4	1	0	7	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:99720580A>G	ENST00000393483.3	-	10	1305	c.461T>C	c.(460-462)cTt>cCt	p.L154P	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Splice_Site_p.L154P|TSGA10_ENST00000410001.1_Splice_Site_p.L154P|TSGA10_ENST00000539964.1_Splice_Site_p.L154P|TSGA10_ENST00000542655.1_Splice_Site_p.L154P	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	154					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						TTCATCATCAAGCTATACAAG	0.383																																																	0													155	139	145					2																	99720580		2202	4300	6502	SO:0001630	splice_region_variant	0			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.460-1T>C	2.37:g.99720580A>G			B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.L154P	ENST00000393483.3	37	c.461	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816168	0.70912	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.36	5.36	0.76844	.	0.000000	0.47093	D	0.000254	T	0.66307	0.2776	M	0.73598	2.24	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66351	0.943;0.943	T	0.70364	-0.4892	10	0.72032	D	0.01	-6.2363	13.4119	0.60948	1.0:0.0:0.0:0.0	.	154;154	B7Z925;Q9BZW7	.;TSG10_HUMAN	P	154	ENSP00000377123:L154P;ENSP00000386956:L154P;ENSP00000347161:L154P;ENSP00000444419:L154P;ENSP00000386508:L154P;ENSP00000377122:L154P;ENSP00000445623:L154P	ENSP00000347161:L154P	L	-	2	0	TSGA10	99087012	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.013000	0.70776	2.260000	0.74910	0.529000	0.55759	CTT	TSGA10	-	NULL	ENSG00000135951		0.383	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	-	0	36	0	A	NM_182911	Missense_Mutation	99720580	-1	tier1	-	no_errors	ENST00000355053	ensembl	human	known	74_37	missense	14.93	57	10	SNP	1.000	G	G	99720580	A	G	99720580	5	3	146	1	0	0	0	0	0	0	1	0	16665	86	3	4	1683	4	TSGA10	2	99720580	Splice_Site	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	24818889	99720580	143478793	33	37075											
GCC2	9648	genome.wustl.edu	37	chr2	109086106	109086106	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttattttttgtaataGgattctgtaacaaagatggg	11	17	10	3	0	1	1	0	0	1	1	1	2	1	2	0	2	2	3	0	2	5	8			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:109086106G>T	ENST00000309863.6	+	6	1035		c.e6-1		GCC2_ENST00000485546.1_Splice_Site	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2						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						TTTTGTAATAGGATTCTGTAA	0.318																																																	0													47	55	52					2																	109086106		2186	4296	6482	SO:0001630	splice_region_variant	0			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.322-1G>T	2.37:g.109086106G>T			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Splice_Site	SNP	-	e6-1	ENST00000309863.6	37	c.322-1	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677920	0.29783	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409821;ENST00000409896	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.466	0.94939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GCC2	108452538	1.000000	0.71417	0.984000	0.44739	0.154000	0.21943	7.396000	0.79891	2.661000	0.90470	0.460000	0.39030	.	GCC2	-	-	ENSG00000135968		0.318	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	-	0	27	0	G	NM_014635	Intron	109086106	1	tier1	-	no_errors	ENST00000309863	ensembl	human	known	74_37	splice_site	5.71	66	4	SNP	1.000	T	T	109086106	G	T	109086106	5	4	146	1	0	0	0	0	0	0	1	0	6311	1014	35	3	343	3	GCC2	2	109086106	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	9365526	109086106	134113267	34	37076											
DDX18	8886	genome.wustl.edu	37	chr2	118578865	118578865	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagtatcagaccacttctgGaaggcaggtatgattaacat	15	10	9	7	0	2	2	1	1	1	1	2	3	2	3	1	3	1	3	1	3	5	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:118578865G>T	ENST00000263239.2	+	4	771	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	215	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACCACTTCTGGAAGGCAGGTA	0.318																																																	0													77	78	78					2																	118578865		2203	4299	6502	SO:0001587	stop_gained	0			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.643G>T	2.37:g.118578865G>T	ENSP00000263239:p.Glu215*		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E215*	ENST00000263239.2	37	c.643	CCDS2120.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.066395	0.98040	.	.	ENSG00000088205	ENST00000263239	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	0.0187	17.0203	0.86432	0.0:0.0:1.0:0.0	.	.	.	.	X	215	.	ENSP00000263239:E215X	E	+	1	0	DDX18	118295335	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.070000	0.93974	2.775000	0.95449	0.650000	0.86243	GAA	DDX18	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000088205		0.318	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	HGNC	protein_coding	OTTHUMT00000129632.3		0	36	0	G	NM_006773		118578865	1			no_errors	ENST00000263239	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	1.000	T	T	118578865	G	T	118578865	4	4	146	1	0	0	0	0	0	1	0	0	4354	1175	41	3	657	3	DDX18	2	118578865	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	9492759	118578865	124620508	35	37077											
LCT	3938	genome.wustl.edu	37	chr2	136564731	136564731	+	Silent	SNP	G	G	T	0	0	1	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	gaagctgcactccagatgaaGccctcaggaaaccgtccgta	12	6	10	13	2	1	2	1	1	0	1	3	4	3	3	4	1	4	3	4	1	4	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:136564731G>T	ENST00000264162.2	-	9	4150	c.4140C>A	c.(4138-4140)ggC>ggA	p.G1380G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1380	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)	TCCAGATGAAGCCCTCAGGAA	0.577																																																	0													156	123	134					2																	136564731		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4140C>A	2.37:g.136564731G>T			Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.G1380	ENST00000264162.2	37	c.4140	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1		0	52	0	G	NM_002299		136564731	-1			no_errors	ENST00000264162	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	T	T	136564731	G	T	136564731	2	4	146	1	0	0	0	0	0	0	0	1	8721	958	34	3		3	LCT	2	136564731	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	17985866	136564731	106634642	36	37078											
XIRP2	129446	genome.wustl.edu	37	chr2	168105269	168105269	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtcagatatggaatgtaAaattactacctcaaaggatc	15	11	7	8	0	2	1	2	0	0	1	3	3	2	3	2	2	2	1	2	2	7	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:168105269A>C	ENST00000409195.1	+	9	7456	c.7367A>C	c.(7366-7368)aAa>aCa	p.K2456T	XIRP2_ENST00000295237.9_Missense_Mutation_p.K2456T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K2234T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2281					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						ATGGAATGTAAAATTACTACC	0.388																																																	0													80	80	80					2																	168105269		1872	4121	5993	SO:0001583	missense	0			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.7367A>C	2.37:g.168105269A>C	ENSP00000386840:p.Lys2456Thr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.K2456T	ENST00000409195.1	37	c.7367	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	6.341	0.430974	0.12045	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03094	4.05;4.05;4.05	5.52	2.96	0.34315	.	0.547283	0.18235	N	0.147458	T	0.04770	0.0129	M	0.63428	1.95	0.09310	N	1	B;B;B	0.20052	0.024;0.041;0.041	B;B;B	0.12156	0.003;0.007;0.007	T	0.33854	-0.9852	10	0.25751	T	0.34	-14.0917	7.612	0.28135	0.6088:0.2636:0.0:0.1276	.	2281;2281;2234	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	2456;2456;2234	ENSP00000386840:K2456T;ENSP00000295237:K2456T;ENSP00000387255:K2234T	ENSP00000295237:K2456T	K	+	2	0	XIRP2	167813515	0.016000	0.18221	0.027000	0.17364	0.233000	0.25261	1.487000	0.35540	1.019000	0.39547	-0.332000	0.08345	AAA	XIRP2	-	NULL	ENSG00000163092		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	49	0	A	NM_152381		168105269	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.002	C	C	168105269	A	C	168105269	3	2	146	1	0	0	0	0	1	0	0	0	17479	14	1	4	7397	4	XIRP2	2	168105269	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	31540538	168105269	75094104	37	37079											
XIRP2	129446	genome.wustl.edu	37	chr2	168115797	168115797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaagcctttgtttcccaGagtggaggtgcagtcagaac	10	10	12	9	0	1	2	1	0	0	2	2	3	2	3	2	2	4	3	2	2	2	3	rs75758327	byFrequency	TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:168115797G>T	ENST00000409728.1	+	11	2929	c.2840G>T	c.(2839-2841)aGa>aTa	p.R947I	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.R947I|XIRP2_ENST00000409756.2_Missense_Mutation_p.R914I|XIRP2_ENST00000409043.1_Missense_Mutation_p.R914I|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.R692I|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGTTTCCCAGAGTGGAGGTG	0.448																																																	0													79	73	75					2																	168115797		1937	4147	6084	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2840G>T	2.37:g.168115797G>T	ENSP00000386619:p.Arg947Ile		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R947I	ENST00000409728.1	37	c.2840	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738222	0.49045	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	5.7	-1.62	0.08372	.	.	.	.	.	T	0.60805	0.2297	.	.	.	0.09310	N	1	P;P	0.44380	0.834;0.834	B;B	0.37144	0.178;0.242	T	0.55042	-0.8202	8	0.72032	D	0.01	.	1.9647	0.03393	0.2847:0.2083:0.4003:0.1066	.	914;947	A4UGR9-4;A4UGR9-6	.;.	I	914;947;914;947;692	ENSP00000386454:R914I;ENSP00000386619:R947I;ENSP00000386724:R914I;ENSP00000415541:R947I;ENSP00000386981:R692I	ENSP00000386454:R914I	R	+	2	0	XIRP2	167824043	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.318000	0.19504	-0.318000	0.08665	0.650000	0.86243	AGA	XIRP2	-	NULL	ENSG00000163092		0.448	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	-	0	33	0	G	NM_152381		168115797	1	tier1	-	no_errors	ENST00000420519	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.000	T	T	168115797	G	T	168115797	3	4	146	1	0	0	0	0	1	0	0	0	17479	942	33	3	12158	3	XIRP2	2	168115797	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	10528	168115797	75083576	38	37080											
PRKRA	8575	genome.wustl.edu	37	chr2	179296885	179296885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagctgcatcactttgtGcattgccacaggagataccg	9	11	11	10	1	1	2	1	1	0	1	1	3	1	2	2	1	5	3	2	1	1	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:179296885G>T	ENST00000325748.4	-	8	1081	c.881C>A	c.(880-882)gCa>gAa	p.A294E	PRKRA_ENST00000432031.2_Missense_Mutation_p.A283E|PRKRA_ENST00000438687.3_Missense_Mutation_p.A181E|PRKRA_ENST00000487082.1_Missense_Mutation_p.A269E|AC009948.5_ENST00000436616.2_RNA|AC009948.5_ENST00000415236.1_RNA|AC009948.5_ENST00000450044.1_RNA|AC009948.5_ENST00000454488.1_RNA|AC009948.5_ENST00000453026.2_RNA|AC009948.5_ENST00000420672.1_RNA	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	294	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.|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)	p.A294G(1)		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)			ATCACTTTGTGCATTGCCACA	0.418																																					Melanoma(200;68 3001 23825 48764)												1	Substitution - Missense(1)	lung(1)											140	126	131					2																	179296885		2203	4300	6503	SO:0001583	missense	0			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.881C>A	2.37:g.179296885G>T	ENSP00000318176:p.Ala294Glu		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.A294E	ENST00000325748.4	37	c.881	CCDS2279.1	2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782233	0.90282	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.12	5.12	0.69794	Double-stranded RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.97238	0.9097	M	0.82517	2.595	0.58432	D	0.999998	D;D	0.67145	0.995;0.996	D;D	0.70016	0.921;0.967	D	0.97799	1.0243	10	0.66056	D	0.02	.	17.3325	0.87269	0.0:0.0:1.0:0.0	.	294;283	O75569;O75569-2	PRKRA_HUMAN;.	E	294;181;269;283	ENSP00000318176:A294E;ENSP00000398980:A181E;ENSP00000430604:A269E;ENSP00000393883:A283E	ENSP00000318176:A294E	A	-	2	0	PRKRA	179005131	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.606000	0.90888	2.402000	0.81655	0.467000	0.42956	GCA	PRKRA	-	smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	ENSG00000180228		0.418	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRA	HGNC	protein_coding	OTTHUMT00000255782.2	-	0	45	0	G	NM_003690		179296885	-1	tier1	-	no_errors	ENST00000325748	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	179296885	G	T	179296885	3	4	146	1	0	0	0	0	1	0	0	0	12566	1319	46	3	64	3	PRKRA	2	179296885	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	11181088	179296885	63902488	39	37081											
TFPI	7035	genome.wustl.edu	37	chr2	188331737	188331737	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttttcttttggttttaaTtaggcctccttttgatattc	5	24	5	7	0	2	1	0	1	2	0	4	1	3	1	2	2	0	1	2	2	3	11			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:188331737T>G	ENST00000233156.3	-	8	1135	c.841A>C	c.(841-843)Att>Ctt	p.I281L	TFPI_ENST00000392365.1_Missense_Mutation_p.I281L|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	281					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TTGGTTTTAATTAGGCCTCCT	0.254																																																	0													28	32	30					2																	188331737		2148	4191	6339	SO:0001583	missense	0				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.841A>C	2.37:g.188331737T>G	ENSP00000233156:p.Ile281Leu		O95103|Q53TS4	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.I281L	ENST00000233156.3	37	c.841	CCDS2294.1	2	.	.	.	.	.	.	.	.	.	.	T	17.00	3.276825	0.59758	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055	T;T;T	0.55413	0.65;0.65;0.52	4.8	3.65	0.41850	.	0.140767	0.43919	D	0.000511	T	0.45955	0.1368	M	0.64997	1.995	0.26377	N	0.976796	P	0.47841	0.901	P	0.44696	0.458	T	0.34601	-0.9822	10	0.09338	T	0.73	.	7.1627	0.25672	0.0:0.1031:0.0:0.8968	.	281	P10646	TFPI1_HUMAN	L	281	ENSP00000376172:I281L;ENSP00000233156:I281L;ENSP00000397248:I281L	ENSP00000233156:I281L	I	-	1	0	TFPI	188039982	0.992000	0.36948	0.972000	0.41901	0.729000	0.41735	1.475000	0.35409	0.796000	0.33947	0.533000	0.62120	ATT	TFPI	-	pirsf_Prot_inhib_I2_TFPI	ENSG00000003436		0.254	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI	HGNC	protein_coding	OTTHUMT00000255881.1	-	0	44	0	T	NM_006287		188331737	-1	tier1	-	no_errors	ENST00000233156	ensembl	human	known	74_37	missense	16.39	102	20	SNP	1.000	G	G	188331737	T	G	188331737	3	3	146	1	0	0	0	0	1	0	0	0	15855	1493	52	4	77	4	TFPI	2	188331737	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	9034852	188331737	54867636	40	37082											
MYO1B	4430	genome.wustl.edu	37	chr2	192267361	192267361	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatctaaaacattctaggctCgaagggaattgaaacgcttg	14	11	9	7	2	2	1	0	1	2	0	3	3	2	2	0	2	2	2	0	2	7	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:192267361C>T	ENST00000392318.3	+	24	2720	c.2473C>T	c.(2473-2475)Cga>Tga	p.R825*	MYO1B_ENST00000439065.2_Nonsense_Mutation_p.R70*|MYO1B_ENST00000339514.4_Intron|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R825*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R796*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	825	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)			ATTCTAGGCTCGAAGGGAATT	0.438																																																	0													130	103	111					2																	192267361		1568	3582	5150	SO:0001587	stop_gained	0			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.2473C>T	2.37:g.192267361C>T	ENSP00000376132:p.Arg825*		O43794|Q7Z6L5	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R825*	ENST00000392318.3	37	c.2473	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	C	41	9.000514	0.99031	.	.	ENSG00000128641	ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0534	0.89356	0.0:1.0:0.0:0.0	.	.	.	.	X	825;825;796;70	.	ENSP00000306382:R825X	R	+	1	2	MYO1B	191975606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.149000	0.77396	2.699000	0.92147	0.561000	0.74099	CGA	MYO1B	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000128641		0.438	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1		0	23	0	C	NM_012223		192267361	1			no_errors	ENST00000304164	ensembl	human	known	74_37	nonsense	9.68	111	12	SNP	1.000	T	T	192267361	C	T	192267361	4	4	146	1	0	0	0	0	0	1	0	0	10107	876	31	1	2563	1	MYO1B	2	192267361	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	3935624	192267361	50932012	41	37083											
SF3B1	23451	genome.wustl.edu	37	chr2	198268376	198268376	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcaataactttcacaagtAaatgacgctcttgatcctca	14	13	4	10	1	4	2	3	2	1	0	5	2	5	2	1	0	1	2	1	0	6	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:198268376A>T	ENST00000335508.6	-	12	1743	c.1652T>A	c.(1651-1653)tTa>tAa	p.L551*	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	551	Interaction with SF3B14.				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)			TTTCACAAGTAAATGACGCTC	0.373			Mis		myelodysplastic syndrome																																			Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													97	98	98					2																	198268376		2203	4300	6503	SO:0001587	stop_gained	0			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.1652T>A	2.37:g.198268376A>T	ENSP00000335321:p.Leu551*		E9PCH3	Nonsense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.L551*	ENST00000335508.6	37	c.1652	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	A	39	7.482987	0.98312	.	.	ENSG00000115524	ENST00000335508	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	X	551	.	ENSP00000335321:L551X	L	-	2	0	SF3B1	197976621	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.169000	0.94788	2.371000	0.80710	0.533000	0.62120	TTA	SF3B1	-	superfamily_ARM-type_fold	ENSG00000115524		0.373	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	-	0	41	0	A			198268376	-1	tier1	-	no_errors	ENST00000335508	ensembl	human	known	74_37	nonsense	11.69	68	9	SNP	1.000	T	T	198268376	A	T	198268376	4	4	146	1	0	0	0	0	0	1	0	0	14194	372	13	5	2318	5	SF3B1	2	198268376	Nonsense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	6001015	198268376	44930997	42	37084											
CPO	130749	genome.wustl.edu	37	chr2	207833984	207833984	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgagggacagtggaacaTatgggtttgttctgccagaa	11	10	14	6	0	1	2	0	1	1	1	1	4	1	4	1	3	3	3	1	3	3	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:207833984T>C	ENST00000272852.3	+	9	995	c.949T>C	c.(949-951)Tat>Cat	p.Y317H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	317						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CAGTGGAACATATGGGTTTGT	0.512																																																	0													144	127	132					2																	207833984		2203	4300	6503	SO:0001583	missense	0				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.949T>C	2.37:g.207833984T>C	ENSP00000272852:p.Tyr317His		Q2M277|Q7RTW7	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	p.Y317H	ENST00000272852.3	37	c.949	CCDS2372.1	2	.	.	.	.	.	.	.	.	.	.	T	4.473	0.087580	0.08583	.	.	ENSG00000144410	ENST00000272852	T	0.32753	1.44	5.13	-6.49	0.01890	Peptidase M14, carboxypeptidase A (2);	0.569588	0.19535	N	0.111936	T	0.19208	0.0461	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.05084	-1.0907	10	0.52906	T	0.07	.	12.8006	0.57584	0.0:0.6688:0.1202:0.211	.	317	Q8IVL8	CBPO_HUMAN	H	317	ENSP00000272852:Y317H	ENSP00000272852:Y317H	Y	+	1	0	CPO	207542229	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.363000	0.07593	-1.508000	0.01800	-1.144000	0.01866	TAT	CPO	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000144410		0.512	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPO	HGNC	protein_coding	OTTHUMT00000202040.2	-	0	63	0	T	NM_173077		207833984	1	tier1	-	no_errors	ENST00000272852	ensembl	human	known	74_37	missense	28.33	43	17	SNP	0.000	C	C	207833984	T	C	207833984	3	2	146	1	0	0	0	0	1	0	0	0	3827	1406	49	4	983	4	CPO	2	207833984	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	9565608	207833984	35365389	43	37085											
ERBB4	2066	genome.wustl.edu	37	chr2	212566719	212566719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcttttctgttgtcccGgattactattctctggttga	5	19	8	9	1	3	1	1	1	2	0	5	2	4	2	1	2	2	3	1	2	2	8			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:212566719G>A	ENST00000342788.4	-	12	1772	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	ERBB4_ENST00000436443.1_Missense_Mutation_p.R488W|ERBB4_ENST00000402597.1_Missense_Mutation_p.R488W	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	488					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)	CTGTTGTCCCGGATTACTATT	0.343										TSP Lung(8;0.080)																																							0													141	133	136					2																	212566719		2203	4300	6503	SO:0001583	missense	0			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.1462C>T	2.37:g.212566719G>A	ENSP00000342235:p.Arg488Trp		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R488W	ENST00000342788.4	37	c.1462	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292624	0.80914	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75589	-0.94;-0.95;-0.95	5.71	5.71	0.89125	.	0.168444	0.52532	D	0.000073	T	0.81019	0.4736	L	0.56769	1.78	0.58432	D	0.999993	D;D;D;D;D	0.65815	0.995;0.992;0.99;0.995;0.991	P;P;P;P;P	0.53035	0.583;0.716;0.472;0.583;0.575	T	0.81724	-0.0802	10	0.59425	D	0.04	.	19.8769	0.96880	0.0:0.0:1.0:0.0	.	488;488;347;488;488	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	W	488	ENSP00000342235:R488W;ENSP00000403204:R488W;ENSP00000385565:R488W	ENSP00000342235:R488W	R	-	1	2	ERBB4	212274964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.318000	0.79029	2.712000	0.92718	0.650000	0.86243	CGG	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000178568		0.343	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0	38	0	G	NM_001042599		212566719	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	24.39	62	20	SNP	1.000	A	A	212566719	G	A	212566719	3	1	146	1	0	0	0	0	1	0	0	0	5225	1115	39	1	2532	1	ERBB4	2	212566719	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	4732735	212566719	30632654	44	37086											
BARD1	580	genome.wustl.edu	37	chr2	215593433	215593433	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagcaactcaaaggacatCacacagtctataaaccagct	17	6	7	11	0	3	0	2	0	1	0	3	2	3	2	1	2	4	2	1	2	6	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:215593433C>G	ENST00000260947.4	-	11	2435	c.2301G>C	c.(2299-2301)gtG>gtC	p.V767V	BARD1_ENST00000449967.2_3'UTR|BARD1_ENST00000432456.1_Silent_p.V138V	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	767	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAAAGGACATCACACAGTCTA	0.423									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													55	55	55					2																	215593433		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.2301G>C	2.37:g.215593433C>G			F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Silent	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.V767	ENST00000260947.4	37	c.2301	CCDS2397.1	2																																																																																			BARD1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000138376		0.423	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1		0	31	0	C	NM_000465		215593433	-1			no_errors	ENST00000260947	ensembl	human	known	74_37	silent	8.33	33	3	SNP	1.000	G	G	215593433	C	G	215593433	2	3	146	1	0	0	0	0	0	0	0	1	1313	813	29	5		5	BARD1	2	215593433	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	3026714	215593433	27605940	45	37087											
COL4A4	1286	genome.wustl.edu	37	chr2	227985836	227985836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccaggggtccaattggaCcctgtggccctggtggtcct	4	10	13	14	0	0	0	0	0	0	0	3	1	3	1	5	6	0	0	5	6	1	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:227985836C>G	ENST00000396625.3	-	5	428	c.221G>C	c.(220-222)gGt>gCt	p.G74A	COL4A4_ENST00000329662.7_Missense_Mutation_p.G74A	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	74	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCAATTGGACCCTGTGGCCC	0.532																																																	0													46	45	45					2																	227985836		1820	4074	5894	SO:0001583	missense	0				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.221G>C	2.37:g.227985836C>G	ENSP00000379866:p.Gly74Ala		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G74A	ENST00000396625.3	37	c.221	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380784	0.82792	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99329	-5.75;-5.75	5.24	5.24	0.73138	.	.	.	.	.	D	0.99551	0.9839	M	0.91663	3.23	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98216	1.0475	9	0.87932	D	0	.	18.8187	0.92088	0.0:1.0:0.0:0.0	.	74	P53420	CO4A4_HUMAN	A	74	ENSP00000379866:G74A;ENSP00000328553:G74A	ENSP00000328553:G74A	G	-	2	0	COL4A4	227694080	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.055000	0.71103	2.451000	0.82905	0.455000	0.32223	GGT	COL4A4	-	pfam_Collagen	ENSG00000081052		0.532	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1		0	8	0	C	NM_000092		227985836	-1			no_errors	ENST00000396625	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	G	G	227985836	C	G	227985836	3	3	146	1	0	0	0	0	1	0	0	0	3700	507	18	5	5027	5	COL4A4	2	227985836	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	12392403	227985836	15213537	46	37088											
CHRND	1144	genome.wustl.edu	37	chr2	233398705	233398705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggatggacccagccCtggggccctggtgcggagga	8	4	18	11	1	0	1	0	0	0	1	0	5	0	5	3	7	3	1	3	7	0	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr2:233398705C>A	ENST00000258385.3	+	10	1144	c.1112C>A	c.(1111-1113)cCt>cAt	p.P371H	CHRND_ENST00000543200.1_Missense_Mutation_p.P356H|CHRND_ENST00000457943.2_Missense_Mutation_p.P177H	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	371					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)	GGACCCAGCCCTGGGGCCCTG	0.632																																																	0													51	57	55					2																	233398705		2203	4300	6503	SO:0001583	missense	0			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.1112C>A	2.37:g.233398705C>A	ENSP00000258385:p.Pro371His		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P371H	ENST00000258385.3	37	c.1112	CCDS2494.1	2	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263377	0.23051	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	D;D;D	0.85629	-2.01;-2.01;-2.01	5.81	3.02	0.34903	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.949096	0.08758	N	0.898062	D	0.88683	0.6503	L	0.46157	1.445	0.09310	N	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.72338	0.942;0.972;0.977;0.977	T	0.75722	-0.3218	10	0.35671	T	0.21	.	9.5618	0.39373	0.0:0.7533:0.117:0.1297	.	177;356;371;371	B4E3W4;B4DT92;A8K661;Q07001	.;.;.;ACHD_HUMAN	H	356;371;177	ENSP00000438380:P356H;ENSP00000258385:P371H;ENSP00000391055:P177H	ENSP00000258385:P371H	P	+	2	0	CHRND	233106949	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	1.717000	0.37991	0.804000	0.34136	-0.844000	0.03045	CCT	CHRND	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000135902		0.632	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2	-	0	46	0	C			233398705	1	tier1	-	no_errors	ENST00000258385	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.010	A	A	233398705	C	A	233398705	3	1	146	1	0	0	0	0	1	0	0	0	3401	681	24	3	1150	3	CHRND	2	233398705	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	5412869	233398705	9800668	47	37089											
EDEM1	9695	genome.wustl.edu	37	chr3	5244667	5244667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaggtgaatctaaagacagGagttcctcctgacaccaata	14	8	8	11	0	1	3	0	2	1	1	3	4	3	4	4	2	0	1	4	2	5	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:5244667G>A	ENST00000256497.4	+	5	1008	c.875G>A	c.(874-876)gGa>gAa	p.G292E	EDEM1_ENST00000445686.1_Missense_Mutation_p.G97E	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	292					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)		CTAAAGACAGGAGTTCCTCCT	0.512																																																	0													69	70	70					3																	5244667		2203	4300	6503	SO:0001583	missense	0			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.875G>A	3.37:g.5244667G>A	ENSP00000256497:p.Gly292Glu		A8K9C8|B4DXP3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.G292E	ENST00000256497.4	37	c.875	CCDS33686.1	3	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847895	0.91277	.	.	ENSG00000134109	ENST00000419550;ENST00000256497;ENST00000445686	T;T	0.72942	-0.7;-0.7	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.88104	0.6347	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.997	D	0.90475	0.4456	10	0.87932	D	0	-22.9657	19.2502	0.93921	0.0:0.0:1.0:0.0	.	97;292;70	B4DXP3;Q92611;B4DPV5	.;EDEM1_HUMAN;.	E	70;292;97	ENSP00000256497:G292E;ENSP00000394099:G97E	ENSP00000256497:G292E	G	+	2	0	EDEM1	5219667	1.000000	0.71417	0.972000	0.41901	0.924000	0.55760	9.260000	0.95568	2.532000	0.85374	0.650000	0.86243	GGA	EDEM1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	ENSG00000134109		0.512	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM1	HGNC	protein_coding	OTTHUMT00000337566.2	-	0	46	0	G	NM_014674		5244667	1	tier1	-	no_errors	ENST00000256497	ensembl	human	known	74_37	missense	18.06	59	13	SNP	0.999	A	A	5244667	G	A	5244667	3	1	146	1	0	0	0	0	1	0	0	0	4925	1174	41	3	893	3	EDEM1	3	5244667	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09		5244667	192777763	48	37090											
CHCHD4	131474	genome.wustl.edu	37	chr3	14157970	14157970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatcagccaccaattctGcactgcttggagtttcatga	9	12	9	11	0	4	1	3	1	1	0	4	2	4	2	2	2	3	3	2	2	1	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:14157970G>T	ENST00000396914.3	-	2	258	c.77C>A	c.(76-78)gCa>gAa	p.A26E	CHCHD4_ENST00000295767.5_Missense_Mutation_p.A39E	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	26					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CACCAATTCTGCACTGCTTGG	0.488																																																	0													232	207	216					3																	14157970		2203	4300	6503	SO:0001583	missense	0			BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"Coiled-coil-helix-coiled-coil-helix domain containing"	26467	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)", "mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.77C>A	3.37:g.14157970G>T	ENSP00000380122:p.Ala26Glu		A8K3Z9|Q96AI2|Q96MY6	Missense_Mutation	SNP	pfam_CHCH	p.A39E	ENST00000396914.3	37	c.116	CCDS43054.1	3	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284762	0.59867	.	.	ENSG00000163528	ENST00000295767;ENST00000396914	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.47716	1.5	0.80722	D	1	P;P	0.51537	0.779;0.946	B;B	0.43155	0.141;0.41	T	0.50558	-0.8814	9	0.10377	T	0.69	-23.3386	18.0519	0.89351	0.0:0.0:1.0:0.0	.	26;39	Q8N4Q1;Q8N4Q1-2	MIA40_HUMAN;.	E	39;26	.	ENSP00000295767:A39E	A	-	2	0	CHCHD4	14132971	1.000000	0.71417	0.940000	0.37924	0.192000	0.23643	9.760000	0.98935	2.251000	0.74343	0.491000	0.48974	GCA	CHCHD4	-	NULL	ENSG00000163528		0.488	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD4	HGNC	protein_coding	OTTHUMT00000340423.1		0	39	0	G	NM_144636		14157970	-1			no_errors	ENST00000295767	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	14157970	G	T	14157970	3	4	146	1	0	0	0	0	1	0	0	0	3325	1319	46	3	359	3	CHCHD4	3	14157970	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	8913303	14157970	183864460	49	37091											
SLC22A13	9390	genome.wustl.edu	37	chr3	38318435	38318435	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggtgggcatcttctCacggatcgggggcatcctca	5	9	16	11	2	3	0	2	0	2	0	6	1	4	1	1	7	0	3	1	7	0	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:38318435C>A	ENST00000311856.4	+	9	1428	c.1379C>A	c.(1378-1380)tCa>tAa	p.S460*		NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	460					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)		GGCATCTTCTCACGGATCGGG	0.627																																																	0													51	40	44					3																	38318435		2203	4300	6503	SO:0001587	stop_gained	0			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.1379C>A	3.37:g.38318435C>A	ENSP00000310241:p.Ser460*		B2RCV9|Q8IYG1	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S460*	ENST00000311856.4	37	c.1379	CCDS2676.1	3	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085227	0.76642	.	.	ENSG00000172940	ENST00000311856	.	.	.	3.03	3.03	0.35002	.	0.062797	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	14.311	0.66416	0.0:1.0:0.0:0.0	.	.	.	.	X	460	.	ENSP00000310241:S460X	S	+	2	0	SLC22A13	38293439	0.980000	0.34600	0.860000	0.33809	0.624000	0.37722	5.341000	0.65964	2.023000	0.59567	0.650000	0.86243	TCA	SLC22A13	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000172940		0.627	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	HGNC	protein_coding	OTTHUMT00000253746.2	-	0	18	0	C	NM_004256		38318435	1	tier1	-	no_errors	ENST00000311856	ensembl	human	known	74_37	nonsense	25.00	27	9	SNP	0.992	A	A	38318435	C	A	38318435	4	1	146	1	0	0	0	0	0	1	0	0	14489	838	29	3	1413	3	SLC22A13	3	38318435	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	24160465	38318435	159703995	50	37092											
SCN10A	6336	genome.wustl.edu	37	chr3	38830463	38830463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactcaattttctctggaaGgtcagttcgggtcatgcaca	9	13	9	10	1	5	0	4	0	1	0	7	1	5	1	0	3	1	2	0	3	2	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:38830463G>T	ENST00000449082.2	-	3	453	c.454C>A	c.(454-456)Ctt>Att	p.L152I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	152					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)	TTCTCTGGAAGGTCAGTTCGG	0.373																																																	0													136	129	131					3																	38830463		2203	4300	6503	SO:0001583	missense	0			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.454C>A	3.37:g.38830463G>T	ENSP00000390600:p.Leu152Ile		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.L152I	ENST00000449082.2	37	c.454	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184702	0.38609	.	.	ENSG00000185313	ENST00000449082	D	0.97529	-4.42	5.18	-1.24	0.09435	.	0.528838	0.20166	N	0.097848	D	0.91784	0.7401	L	0.40543	1.245	0.09310	N	0.999999	B	0.25955	0.138	B	0.18561	0.022	D	0.84749	0.0755	10	0.72032	D	0.01	.	3.132	0.06426	0.3285:0.1036:0.4528:0.1152	.	152	Q9Y5Y9	SCNAA_HUMAN	I	152	ENSP00000390600:L152I	ENSP00000390600:L152I	L	-	1	0	SCN10A	38805467	0.000000	0.05858	0.079000	0.20413	0.763000	0.43281	0.134000	0.15932	-0.042000	0.13535	0.650000	0.86243	CTT	SCN10A	-	NULL	ENSG00000185313		0.373	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	-	0	48	0	G	NM_006514		38830463	-1	tier1	-	no_errors	ENST00000449082	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.068	T	T	38830463	G	T	38830463	3	4	146	1	0	0	0	0	1	0	0	0	13957	1000	35	3	5516	3	SCN10A	3	38830463	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	512028	38830463	159191967	51	37093											
XIRP1	165904	genome.wustl.edu	37	chr3	39225951	39225951	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggagaatctcggctGgaaggtaaaacccgaggagg	13	4	18	6	2	1	1	0	0	1	1	2	7	1	4	1	7	1	2	1	7	4	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:39225951G>T	ENST00000340369.3	-	2	5214	c.4986C>A	c.(4984-4986)tcC>tcA	p.S1662S	XIRP1_ENST00000421646.1_Silent_p.S345S|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1662					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)		AATCTCGGCTGGAAGGTAAAA	0.547																																																	0													87	88	87					3																	39225951		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4986C>A	3.37:g.39225951G>T			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.S1662	ENST00000340369.3	37	c.4986	CCDS2683.1	3																																																																																			XIRP1	-	NULL	ENSG00000168334		0.547	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	-	0	50	0	G	XM_093522		39225951	-1	tier1	-	no_errors	ENST00000340369	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.135	T	T	39225951	G	T	39225951	2	4	146	1	0	0	0	0	0	0	0	1	17478	1335	47	3		3	XIRP1	3	39225951	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	395488	39225951	158796479	52	37094											
ZNF445	353274	genome.wustl.edu	37	chr3	44488954	44488954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaagatggcccgccctcagGttttcttttcatggcatgct	8	13	9	11	1	3	1	2	0	1	1	3	1	3	1	2	3	1	3	2	3	2	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:44488954G>T	ENST00000396077.2	-	8	2556	c.2209C>A	c.(2209-2211)Cct>Act	p.P737T	ZNF445_ENST00000425708.2_Missense_Mutation_p.P737T	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	737					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)		CCGCCCTCAGGTTTTCTTTTC	0.493																																																	0													93	97	95					3																	44488954		2203	4300	6503	SO:0001583	missense	0			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.2209C>A	3.37:g.44488954G>T	ENSP00000379387:p.Pro737Thr		Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P737T	ENST00000396077.2	37	c.2209	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	g	10.84	1.462817	0.26248	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.07114	3.22;3.22	3.49	-0.819	0.10829	.	0.604741	0.14979	N	0.287396	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.92;0.994	T	0.27297	-1.0078	10	0.36615	T	0.2	.	3.5815	0.07955	0.0884:0.1433:0.4742:0.2941	.	725;737	B7ZKX2;P59923	.;ZN445_HUMAN	T	737	ENSP00000413073:P737T;ENSP00000379387:P737T	ENSP00000379387:P737T	P	-	1	0	ZNF445	44463958	0.000000	0.05858	0.000000	0.03702	0.721000	0.41392	-0.072000	0.11486	-0.167000	0.10871	0.306000	0.20318	CCT	ZNF445	-	NULL	ENSG00000185219		0.493	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2		0	17	0	G	NM_181489		44488954	-1			no_errors	ENST00000396077	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T	T	44488954	G	T	44488954	3	4	146	1	0	0	0	0	1	0	0	0	17966	1261	44	3	890	3	ZNF445	3	44488954	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	5263003	44488954	153533476	53	37095											
NME6	10201	genome.wustl.edu	37	chr3	48336237	48336237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcctcataccagcgctGttcactgaagtcagggaaga	10	10	9	12	1	3	2	3	1	0	1	5	3	5	3	3	1	2	2	3	1	3	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:48336237G>T	ENST00000452211.1	-	7	688	c.451C>A	c.(451-453)Cag>Aag	p.Q151K	NME6_ENST00000426723.1_Missense_Mutation_p.Q84K|NME6_ENST00000426689.2_Missense_Mutation_p.Q151K|NME6_ENST00000435684.1_Missense_Mutation_p.N137K|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000450160.1_Missense_Mutation_p.N137K|NME6_ENST00000447314.1_Missense_Mutation_p.Q106K|NME6_ENST00000421967.1_Missense_Mutation_p.Q159K|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000442597.1_Missense_Mutation_p.Q151K|NME6_ENST00000415644.1_Missense_Mutation_p.Q84K|NME6_ENST00000415053.1_Missense_Mutation_p.Q151K|NME6_ENST00000451657.1_Missense_Mutation_p.N137K			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	151					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|negative regulation of cell growth (GO:0030308)|negative regulation of mitosis (GO:0045839)|UTP biosynthetic process (GO:0006228)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TACCAGCGCTGTTCACTGAAG	0.547																																																	0													85	81	82					3																	48336237		2203	4300	6503	SO:0001583	missense	0			AF051941	CCDS2763.1	3p21.31	2012-05-18	2012-05-18		ENSG00000172113	ENSG00000172113			20567	protein-coding gene	gene with protein product		608294	"non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)"			10453732, 19852809	Standard	NM_005793		Approved	NM23-H6, IPIA-ALPHA	uc003cso.3	O75414	OTTHUMG00000133531	ENST00000452211.1:c.451C>A	3.37:g.48336237G>T	ENSP00000392352:p.Gln151Lys		B4DGW7|B4DM99|Q53HM5|Q96E73|Q9BQ63	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.Q159K	ENST00000452211.1	37	c.475		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.81|19.81	3.896917|3.896917	0.72639|0.72639	.|.	.|.	ENSG00000172113|ENSG00000172113	ENST00000450160;ENST00000451657;ENST00000435684|ENST00000421967;ENST00000426689;ENST00000452211;ENST00000426723;ENST00000415644;ENST00000415053;ENST00000442597;ENST00000447314;ENST00000425930	.|T;T;T;T;T;T;T	.|0.62639	.|0.57;0.58;0.58;0.58;0.58;0.01;0.6	4.48|4.48	3.58|3.58	0.41010|0.41010	.|.	.|0.502444	.|0.23418	.|N	.|0.048388	T|T	0.43277|0.43277	0.1240|0.1240	N|N	0.24115|0.24115	0.695|0.695	0.21802|0.21802	N|N	0.999534|0.999534	B|B;B;B	0.13145|0.24426	0.007|0.103;0.001;0.0	B|B;B;B	0.11329|0.25140	0.006|0.058;0.004;0.002	T|T	0.20273|0.20273	-1.0280|-1.0280	7|10	.|0.10636	.|T	.|0.68	-3.3817|-3.3817	10.4676|10.4676	0.44618|0.44618	0.0:0.1973:0.8027:0.0|0.0:0.1973:0.8027:0.0	.|.	137|84;151;151	O75414-3|O75414-2;O75414;C9J9V6	.|.;NDK6_HUMAN;.	K|K	137|159;151;151;84;84;151;151;106;151	.|ENSP00000416658:Q159K;ENSP00000440286:Q151K;ENSP00000392352:Q151K;ENSP00000399582:Q151K;ENSP00000406642:Q151K;ENSP00000414842:Q106K;ENSP00000411116:Q151K	.|ENSP00000399582:Q151K	N|Q	-|-	3|1	2|0	NME6|NME6	48311241|48311241	0.002000|0.002000	0.14202|0.14202	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.991000|0.991000	0.29654|0.29654	1.206000|1.206000	0.43276|0.43276	0.561000|0.561000	0.74099|0.74099	AAC|CAG	NME6	-	superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase	ENSG00000172113		0.547	NME6-005	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_candidate	protein_coding	NME6	HGNC	protein_coding	OTTHUMT00000346107.1	-	0	14	0	G	NM_005793		48336237	-1	tier1	-	no_errors	ENST00000421967	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	T	T	48336237	G	T	48336237	3	4	146	1	0	0	0	0	1	0	0	0	10534	1386	48	3	113	3	NME6	3	48336237	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	3847283	48336237	149686193	54	37096											
ARIH2	10425	genome.wustl.edu	37	chr3	49020390	49020390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcatggaaagtggagcGtgcagacagctatgacagag	12	7	13	9	1	1	3	1	1	1	2	2	5	1	5	1	2	3	2	1	2	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:49020390G>T	ENST00000356401.4	+	15	1727	c.1388G>T	c.(1387-1389)cGt>cTt	p.R463L	ARIH2_ENST00000449376.1_Missense_Mutation_p.R463L|RP13-131K19.1_ENST00000429681.1_RNA|RP13-131K19.1_ENST00000415982.1_RNA|RP13-131K19.2_ENST00000452042.1_RNA|RP13-131K19.7_ENST00000609473.1_lincRNA	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	463					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)		AAAGTGGAGCGTGCAGACAGC	0.512																																																	0													107	97	101					3																	49020390		2203	4300	6503	SO:0001583	missense	0			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.1388G>T	3.37:g.49020390G>T	ENSP00000348769:p.Arg463Leu		Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.R463L	ENST00000356401.4	37	c.1388	CCDS2780.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.217496	0.95104	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	D;D	0.83837	-1.77;-1.77	6.13	5.25	0.73442	.	0.053328	0.85682	D	0.000000	D	0.90099	0.6907	M	0.68317	2.08	0.80722	D	1	B;B;D	0.76494	0.02;0.02;0.999	B;B;D	0.70016	0.03;0.018;0.967	D	0.90914	0.4778	10	0.62326	D	0.03	.	17.5926	0.88001	0.0:0.1234:0.8766:0.0	.	388;463;463	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	L	463;463;380;287	ENSP00000348769:R463L;ENSP00000403222:R463L	ENSP00000348769:R463L	R	+	2	0	ARIH2	48995394	1.000000	0.71417	0.973000	0.42090	0.967000	0.64934	6.165000	0.71891	1.589000	0.49982	0.644000	0.83932	CGT	ARIH2	-	NULL	ENSG00000177479		0.512	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	-	0	46	0	G	NM_006321		49020390	1	tier1	-	no_errors	ENST00000356401	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	49020390	G	T	49020390	3	4	146	1	0	0	0	0	1	0	0	0	924	1145	40	2	1438	2	ARIH2	3	49020390	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	684153	49020390	149002040	55	37097											
GRM2	2912	genome.wustl.edu	37	chr3	51746583	51746583	+	Frame_Shift_Del	DEL	C	C	-																															gtcccgctatgactactttgCccgcacagtgcctcctgact																										TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:51746583delC	ENST00000395052.3	+	3	779	c.545delC	c.(544-546)gccfs	p.A182fs	GRM2_ENST00000442933.2_Frame_Shift_Del_p.A182fs|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	182					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|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)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACTACTTTGCCCGCACAGTG	0.557																																																	0													173	152	159					3																	51746583		2203	4300	6503	SO:0001589	frameshift_variant	0			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.545delC	3.37:g.51746583delC	ENSP00000378492:p.Ala182fs		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Frame_Shift_Del	DEL	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.R183fs	ENST00000395052.3	37	c.545	CCDS2834.1	3																																																																																			GRM2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000164082		0.557	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1		0	51	0	C			51746583	1	tier1		no_errors	ENST00000395052	ensembl	human	known	74_37	frame_shift_del	17.20	77	16	DEL	1.000	-	-	51746583	C	-	51746583	7	5	146	1	0	1	0	1	0	0	0	0	6824	739	26	0	551	0	GRM2	3	51746583	Frame_Shift_Del	DEL	C	TCGA-R6-A6Y0-01B-11D-A33E-09	2726193	51746583	146275847	56	37098											
PARP3	10039	genome.wustl.edu	37	chr3	51982404	51982404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagcctgtgccctgcccaGagttcagcagctccacattc	7	8	9	17	0	1	1	1	0	0	1	3	1	2	1	5	0	5	3	5	0	0	2	rs368229941		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:51982404G>A	ENST00000417220.2	+	12	1998	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	PARP3_ENST00000431474.1_Missense_Mutation_p.E504K|PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000398755.3_Missense_Mutation_p.E511K			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	504	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCCTGCCCAGAGTTCAGCAG	0.642																																																	0								G	LYS/GLU,LYS/GLU	4,4068		0,4,2032	64	65	65		1531,1510	-0.5	0	3		65	0,8386		0,0,4193	no	missense,missense	PARP3	NM_001003931.2,NM_005485.4	56,56	0,4,6225	AA,AG,GG		0.0,0.0982,0.0321	benign,benign	511/541,504/534	51982404	4,12454	2036	4193	6229	SO:0001583	missense	0			AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"Poly (ADP-ribose) polymerases"	273	protein-coding gene	gene with protein product	"poly(ADP-ribose) synthetase-3", "NAD+ ADP-ribosyltransferase 3", "poly(ADP-ribose) polymerase 3"	607726	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1510G>A	3.37:g.51982404G>A	ENSP00000395951:p.Glu504Lys		Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.E511K	ENST00000417220.2	37	c.1531	CCDS43097.1	3	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.285456	0.01387	9.82E-4	0.0	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755	T;T;T	0.14022	2.54;2.54;2.54	4.78	-0.514	0.11958	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.861304	0.10506	N	0.666777	T	0.03564	0.0102	N	0.03948	-0.315	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.40979	-0.9534	10	0.02654	T	1	-6.6145	1.2102	0.01903	0.3148:0.2659:0.2911:0.1282	.	511;504	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	K	504;504;511	ENSP00000395951:E504K;ENSP00000401511:E504K;ENSP00000381740:E511K	ENSP00000381740:E511K	E	+	1	0	PARP3	51957444	0.000000	0.05858	0.006000	0.13384	0.149000	0.21700	-0.060000	0.11712	-0.182000	0.10602	0.561000	0.74099	GAG	PARP3	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000041880		0.642	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	HGNC	protein_coding	OTTHUMT00000348612.2	-	0	39	0	G	NM_005485.4		51982404	1	tier1	-	no_errors	ENST00000398755	ensembl	human	known	74_37	missense	13.56	51	8	SNP	0.000	A	A	51982404	G	A	51982404	3	1	146	1	0	0	0	0	1	0	0	0	11501	943	33	3	1573	3	PARP3	3	51982404	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	235821	51982404	146040026	57	37099											
TIGIT	201633	genome.wustl.edu	37	chr3	114026796	114026796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcaggagaaaatcagctGgacaggaggaatggagcccc	14	4	13	10	0	2	1	2	0	0	1	2	6	2	5	3	5	2	1	3	5	3	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:114026796G>A	ENST00000486257.1	+	5	810	c.553G>A	c.(553-555)Gga>Aga	p.G185R	TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000481065.1_Missense_Mutation_p.G252R|TIGIT_ENST00000383671.3_Missense_Mutation_p.G185R			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	185					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						AAAATCAGCTGGACAGGAGGA	0.527																																																	0													84	86	85					3																	114026796		2203	4300	6503	SO:0001583	missense	0			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.553G>A	3.37:g.114026796G>A	ENSP00000419085:p.Gly185Arg		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.G185R	ENST00000486257.1	37	c.553	CCDS2980.1	3	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380786	0.24944	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671	T;T;T;T	0.56776	0.52;0.44;0.53;0.53	4.06	4.06	0.47325	.	0.345587	0.25045	N	0.033565	T	0.34395	0.0896	N	0.19112	0.55	0.09310	N	1	B	0.33694	0.421	B	0.29942	0.109	T	0.21348	-1.0248	10	0.33141	T	0.24	-1.4464	12.048	0.53491	0.0:0.0:1.0:0.0	.	185	Q495A1	TIGIT_HUMAN	R	164;252;185;185	ENSP00000418917:G164R;ENSP00000420552:G252R;ENSP00000419085:G185R;ENSP00000373167:G185R	ENSP00000373167:G185R	G	+	1	0	TIGIT	115509486	0.426000	0.25506	0.036000	0.18154	0.006000	0.05464	2.601000	0.46249	2.558000	0.86282	0.655000	0.94253	GGA	TIGIT	-	NULL	ENSG00000181847		0.527	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGIT	HGNC	protein_coding	OTTHUMT00000354690.1	-	0	31	0	G	NM_173799		114026796	1	tier1	-	no_errors	ENST00000383671	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.047	A	A	114026796	G	A	114026796	3	1	146	1	0	0	0	0	1	0	0	0	15949	1349	47	3	567	3	TIGIT	3	114026796	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	62044392	114026796	83995634	58	37100											
C3orf30	152405	genome.wustl.edu	37	chr3	118865547	118865547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagactggctatgccatctGaccagagaggttccagacag	11	8	12	10	0	1	4	0	1	1	3	2	5	2	4	3	2	1	3	3	2	2	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:118865547G>C	ENST00000295622.1	+	1	551	c.511G>C	c.(511-513)Gac>Cac	p.D171H	RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	171										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TATGCCATCTGACCAGAGAGG	0.542																																																	0													66	68	67					3																	118865547		2203	4300	6503	SO:0001583	missense	0			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.511G>C	3.37:g.118865547G>C	ENSP00000295622:p.Asp171His		A1L4B7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.D171H	ENST00000295622.1	37	c.511	CCDS2984.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.40|13.40	2.225495|2.225495	0.39300|0.39300	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150	T|.	0.23950|.	1.88|.	1.55|1.55	1.55|1.55	0.23275|0.23275	.|.	2.166740|.	0.02010|.	N|.	0.046958|.	T|.	0.34135|.	0.0887|.	L|L	0.34521|0.34521	1.04|1.04	0.24952|0.24952	N|N	0.99179|0.99179	D;D|.	0.89917|.	1.0;0.986|.	D;P|.	0.78314|.	0.991;0.85|.	T|.	0.24048|.	-1.0171|.	10|.	0.38643|.	T|.	0.18|.	.|.	9.0535|9.0535	0.36392|0.36392	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	171;171|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	H|S	171|134	ENSP00000295622:D171H|.	ENSP00000295622:D171H|.	D|X	+|+	1|2	0|2	C3orf30|C3orf30	120348237|120348237	0.348000|0.348000	0.24861|0.24861	0.210000|0.210000	0.23637|0.23637	0.089000|0.089000	0.18198|0.18198	1.407000|1.407000	0.34657|0.34657	1.143000|1.143000	0.42306|0.42306	0.514000|0.514000	0.50259|0.50259	GAC|TGA	C3orf30	-	NULL	ENSG00000163424		0.542	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf30	HGNC	protein_coding	OTTHUMT00000354838.1	-	0	25	0	G	NM_152539		118865547	1	tier1	-	no_errors	ENST00000295622	ensembl	human	known	74_37	missense	18.60	35	8	SNP	0.946	C	C	118865547	G	C	118865547	3	2	146	1	0	0	0	0	1	0	0	0	2227	1290	45	5	513	5	C3orf30	3	118865547	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	4838751	118865547	79156883	59	37101											
POLQ	10721	genome.wustl.edu	37	chr3	121207908	121207908	+	Silent	SNP	T	T	C	0	1	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	gtacctgttttttcttgtagTctagaaatatttagaaaatt	12	19	6	4	0	2	2	0	0	2	2	2	2	2	2	1	0	1	3	1	0	8	11			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:121207908T>C	ENST00000264233.5	-	16	3998	c.3870A>G	c.(3868-3870)agA>agG	p.R1290R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1290					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)		TTTCTTGTAGTCTAGAAATAT	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													73	78	76					3																	121207908		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3870A>G	3.37:g.121207908T>C			O95160|Q6VMB5	Silent	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.R1290	ENST00000264233.5	37	c.3870	CCDS33833.1	3																																																																																			POLQ	-	NULL	ENSG00000051341		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0	21	0	T	NM_199420		121207908	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	silent	15.62	27	5	SNP	0.000	C	C	121207908	T	C	121207908	2	2	146	1	0	0	0	0	0	0	0	1	12247	1664	58	4		4	POLQ	3	121207908	Silent	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	2342361	121207908	76814522	60	37102											
PODXL2	50512	genome.wustl.edu	37	chr3	127387367	127387367	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catggcagtggccaccatggGgcctggcacatctctctgag	7	8	13	13	0	2	1	0	1	2	0	3	1	2	1	3	5	0	2	3	5	0	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:127387367G>T	ENST00000342480.6	+	5	1329	c.1290G>T	c.(1288-1290)ggG>ggT	p.G430G		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	430					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GCCACCATGGGGCCTGGCACA	0.657																																																	0													18	16	17					3																	127387367		2203	4297	6500	SO:0001819	synonymous_variant	0			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1290G>T	3.37:g.127387367G>T			Q6UVY4|Q8WUV6	Silent	SNP	pfam_CD34/Podocalyxin	p.G430	ENST00000342480.6	37	c.1290	CCDS3044.1	3																																																																																			PODXL2	-	pfam_CD34/Podocalyxin	ENSG00000114631		0.657	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	HGNC	protein_coding	OTTHUMT00000356638.1		0	22	0	G	NM_015720		127387367	1			no_errors	ENST00000342480	ensembl	human	known	74_37	silent	12.20	36	5	SNP	0.998	T	T	127387367	G	T	127387367	2	4	146	1	0	0	0	0	0	0	0	1	12220	1219	43	3		3	PODXL2	3	127387367	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	6179459	127387367	70635063	61	37103											
PLSCR5	389158	genome.wustl.edu	37	chr3	146311842	146311842	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaagtacgattgaagcaGatgctttcctccactgcaaa	14	9	8	10	1	0	3	0	1	0	2	2	4	2	3	2	0	4	4	2	0	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:146311842G>C	ENST00000443512.1	-	4	1321	c.318C>G	c.(316-318)atC>atG	p.I106M	PLSCR5_ENST00000492200.1_Missense_Mutation_p.I106M|PLSCR5_ENST00000482567.1_Missense_Mutation_p.I94M	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	106										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						GATTGAAGCAGATGCTTTCCT	0.423																																																	0													138	136	137					3																	146311842		1913	4129	6042	SO:0001583	missense	0			AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.318C>G	3.37:g.146311842G>C	ENSP00000390111:p.Ile106Met		B2RXK5	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.I106M	ENST00000443512.1	37	c.318	CCDS46931.1	3	.	.	.	.	.	.	.	.	.	.	G	13.72	2.319927	0.41096	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.21734	1.99;1.99;1.99	5.69	2.91	0.33838	Tubby, C-terminal (1);	.	.	.	.	T	0.15132	0.0365	L	0.29908	0.895	0.25815	N	0.984354	P;P	0.39022	0.655;0.454	B;B	0.40782	0.34;0.285	T	0.21518	-1.0243	9	0.87932	D	0	-15.6785	2.4553	0.04528	0.2008:0.2318:0.4483:0.1191	.	94;106	B2RXK5;A0PG75	.;PLS5_HUMAN	M	106;94;106	ENSP00000417184:I106M;ENSP00000418626:I94M;ENSP00000390111:I106M	ENSP00000390111:I106M	I	-	3	3	PLSCR5	147794532	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.466000	0.45084	0.328000	0.23435	0.650000	0.86243	ATC	PLSCR5	-	pfam_Scramblase,superfamily_Tubby_C-like	ENSG00000231213		0.423	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLSCR5	HGNC	protein_coding	OTTHUMT00000355365.1		0	27	0	G	XM_371670		146311842	-1			no_errors	ENST00000443512	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	C	C	146311842	G	C	146311842	3	2	146	1	0	0	0	0	1	0	0	0	12152	932	33	5	513	5	PLSCR5	3	146311842	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	18924475	146311842	51710588	62	37104											
MFN1	55669	genome.wustl.edu	37	chr3	179095183	179095183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactgtctgttttggttgatGaattttgttcagagtttcat	7	20	10	4	0	3	3	2	2	1	1	3	4	3	3	0	1	0	4	0	1	1	7			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:179095183G>A	ENST00000471841.1	+	12	1402	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	MFN1_ENST00000263969.5_Missense_Mutation_p.E426K|MFN1_ENST00000280653.7_Missense_Mutation_p.E426K	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	426					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)			TTTGGTTGATGAATTTTGTTC	0.254																																																	0													86	88	87					3																	179095183		2203	4296	6499	SO:0001583	missense	0			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.1276G>A	3.37:g.179095183G>A	ENSP00000420617:p.Glu426Lys		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.E426K	ENST00000471841.1	37	c.1276	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572022	0.65765	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000474903	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.49	5.49	0.81192	.	0.088442	0.85682	D	0.000000	D	0.83487	0.5265	L	0.53249	1.67	0.58432	D	0.999992	B;B;B	0.28378	0.01;0.209;0.058	B;B;B	0.25759	0.016;0.063;0.063	T	0.80852	-0.1197	10	0.41790	T	0.15	-20.4859	12.6783	0.56908	0.0759:0.0:0.9241:0.0	.	426;454;426	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	K	426;426;426;426;289	ENSP00000420617:E426K;ENSP00000280653:E426K;ENSP00000263969:E426K;ENSP00000419926:E289K	ENSP00000263969:E426K	E	+	1	0	MFN1	180577877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.408000	0.73285	2.576000	0.86940	0.591000	0.81541	GAA	MFN1	-	NULL	ENSG00000171109		0.254	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	-	0	47	0	G	NM_017927		179095183	1	tier1	-	no_errors	ENST00000263969	ensembl	human	known	74_37	missense	13.01	107	16	SNP	1.000	A	A	179095183	G	A	179095183	3	1	146	1	0	0	0	0	1	0	0	0	9561	1291	45	3	1318	3	MFN1	3	179095183	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	32783341	179095183	18927247	63	37105											
VPS8	23355	genome.wustl.edu	37	chr3	184675247	184675247	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgttgtgtcagttcaacCcaacccaagttatagagact	12	11	8	10	0	2	1	2	0	0	1	2	2	2	1	2	0	3	4	2	0	5	4	rs201443606		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:184675247C>A	ENST00000437079.3	+	37	3292	c.3121C>A	c.(3121-3123)Cca>Aca	p.P1041T	VPS8_ENST00000436792.2_Missense_Mutation_p.P1039T|VPS8_ENST00000446204.2_Missense_Mutation_p.P949T|VPS8_ENST00000287546.4_Missense_Mutation_p.P1041T	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1041							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)			TCAGTTCAACCCAACCCAAGT	0.388																																																	0													83	79	80					3																	184675247		1893	4115	6008	SO:0001583	missense	0			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.3121C>A	3.37:g.184675247C>A	ENSP00000397879:p.Pro1041Thr		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1041T	ENST00000437079.3	37	c.3121	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783283	0.70222	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.35789	1.29;1.29;1.29;1.33	5.46	5.46	0.80206	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.78801	2.425	0.58432	D	0.999999	D;D;P	0.55605	0.959;0.972;0.946	P;D;P	0.64506	0.503;0.926;0.509	T	0.64015	-0.6506	10	0.66056	D	0.02	-20.5427	16.2413	0.82409	0.0:1.0:0.0:0.0	.	1041;949;1039	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	T	1041;1041;1039;949	ENSP00000287546:P1041T;ENSP00000397879:P1041T;ENSP00000404704:P1039T;ENSP00000405483:P949T	ENSP00000287546:P1041T	P	+	1	0	VPS8	186157941	0.978000	0.34361	0.603000	0.28903	0.968000	0.65278	4.413000	0.59795	2.549000	0.85964	0.655000	0.94253	CCA	VPS8	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000156931		0.388	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		-	0	51	0	C	NM_015303		184675247	1	tier1	-	no_errors	ENST00000287546	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.874	A	A	184675247	C	A	184675247	3	1	146	1	0	0	0	0	1	0	0	0	17267	623	22	3	3259	3	VPS8	3	184675247	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	5580064	184675247	13347183	64	37106											
MUC4	4585	genome.wustl.edu	37	chr3	195480039	195480039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagatgtagcagtggcCttgattgtagcagtaattca	10	12	13	6	0	1	2	1	1	0	1	1	3	1	2	1	2	2	5	1	2	3	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr3:195480039C>A	ENST00000346145.4	-	19	2722	c.2683G>T	c.(2683-2685)Ggc>Tgc	p.G895C	MUC4_ENST00000475231.1_Missense_Mutation_p.G5079C|MUC4_ENST00000463781.3_Missense_Mutation_p.G5131C|MUC4_ENST00000349607.4_Missense_Mutation_p.G844C	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1888	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TAGCAGTGGCCTTGATTGTAG	0.592																																																	0													148	141	143					3																	195480039		2203	4300	6503	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2683G>T	3.37:g.195480039C>A	ENSP00000304207:p.Gly895Cys		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.G5131C	ENST00000346145.4	37	c.15391	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	.	11.55	1.671785	0.29693	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.41758	0.99;1.35;1.25;1.3	5.58	5.58	0.84498	.	0.000000	0.52532	D	0.000062	T	0.66915	0.2838	M	0.80183	2.485	0.35308	D	0.783635	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0;0.999	T	0.75690	-0.3230	10	0.51188	T	0.08	-23.4407	16.2775	0.82651	0.0:1.0:0.0:0.0	.	5003;844;895;5131;5079;1836	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	C	844;895;5131;5079;1631	ENSP00000338109:G844C;ENSP00000304207:G895C;ENSP00000417498:G5131C;ENSP00000420243:G5079C	ENSP00000304207:G895C	G	-	1	0	MUC4	196965710	0.998000	0.40836	0.956000	0.39512	0.045000	0.14185	3.835000	0.55805	2.630000	0.89119	0.549000	0.68633	GGC	MUC4	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000145113		0.592	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1		0	45	0	C	NM_018406		195480039	-1			no_errors	ENST00000463781	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.892	A	A	195480039	C	A	195480039	3	1	146	1	0	0	0	0	1	0	0	0	10016	681	24	3	871	3	MUC4	3	195480039	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	10804792	195480039	2542391	65	37107											
ZBTB49	166793	genome.wustl.edu	37	chr4	4304045	4304045	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatttactgcaggaatgttCagcagatgcacagcagaaca	14	9	9	9	0	2	2	2	0	0	2	2	3	2	3	0	1	6	5	0	1	3	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:4304045C>G	ENST00000337872.4	+	3	603	c.482C>G	c.(481-483)tCa>tGa	p.S161*	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Nonsense_Mutation_p.S161*	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CAGGAATGTTCAGCAGATGCA	0.453																																																	0													128	124	125					4																	4304045		2203	4300	6503	SO:0001587	stop_gained	0			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.482C>G	4.37:g.4304045C>G	ENSP00000338807:p.Ser161*		Q59FJ4|Q5EBN0|Q8TB80	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S161*	ENST00000337872.4	37	c.482	CCDS3375.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135631	0.77662	.	.	ENSG00000168826	ENST00000355834;ENST00000337872	.	.	.	5.17	5.17	0.71159	.	0.551754	0.16580	N	0.208232	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	12.3936	0.55373	0.0:0.9225:0.0:0.0775	.	.	.	.	X	161	.	ENSP00000338807:S161X	S	+	2	0	ZBTB49	4354946	0.050000	0.20438	0.005000	0.12908	0.006000	0.05464	3.076000	0.50081	2.585000	0.87301	0.591000	0.81541	TCA	ZBTB49	-	NULL	ENSG00000168826		0.453	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB49	HGNC	protein_coding	OTTHUMT00000206688.3	-	0	25	0	C	NM_145291		4304045	1	tier1	-	no_errors	ENST00000337872	ensembl	human	known	74_37	nonsense	13.64	38	6	SNP	0.078	G	G	4304045	C	G	4304045	4	3	146	1	0	0	0	0	0	1	0	0	17598	838	29	5	488	5	ZBTB49	4	4304045	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09		4304045	186850231	66	37108											
JAKMIP1	152789	genome.wustl.edu	37	chr4	6066624	6066624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacatcgtccaagtcttcttCgggcgtggctggggtcctgt	4	13	13	11	3	2	0	0	0	2	0	6	0	4	0	2	4	1	1	2	4	2	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:6066624C>T	ENST00000282924.5	-	9	1899	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E472K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E287K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E307K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E472K|JAKMIP1_ENST00000457227.2_5'UTR	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	472	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAGTCTTCTTCGGGCGTGGCT	0.532																																																	0													160	134	143					4																	6066624		2203	4300	6503	SO:0001583	missense	0			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1414G>A	4.37:g.6066624C>T	ENSP00000282924:p.Glu472Lys		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	NULL	p.E472K	ENST00000282924.5	37	c.1414	CCDS3385.1	4	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396387	0.83011	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.32988	1.85;1.44;1.85;1.85;1.43	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000002	T	0.46425	0.1392	M	0.62723	1.935	0.54753	D	0.999989	D;D;D;D;D	0.69078	0.987;0.986;0.997;0.997;0.986	P;P;P;P;P	0.56042	0.573;0.555;0.79;0.715;0.63	T	0.46762	-0.9168	10	0.48119	T	0.1	.	16.0347	0.80617	0.0:1.0:0.0:0.0	.	307;472;287;472;472	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	K	472;287;472;364;472;472;307	ENSP00000386711:E472K;ENSP00000387042:E287K;ENSP00000282924:E472K;ENSP00000386925:E472K;ENSP00000386745:E307K	ENSP00000282924:E472K	E	-	1	0	JAKMIP1	6117525	1.000000	0.71417	0.851000	0.33527	0.948000	0.59901	7.140000	0.77322	2.202000	0.70862	0.561000	0.74099	GAA	JAKMIP1	-	NULL	ENSG00000152969		0.532	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2	-	0	75	0	C	NM_144720		6066624	-1	tier1	-	no_errors	ENST00000409021	ensembl	human	known	74_37	missense	29.89	61	26	SNP	1.000	T	T	6066624	C	T	6066624	3	4	146	1	0	0	0	0	1	0	0	0	7967	893	31	1	1208	1	JAKMIP1	4	6066624	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	1762579	6066624	185087652	67	37109											
DCAF16	54876	genome.wustl.edu	37	chr4	17805701	17805701	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctcatttaggtaactaaTattttcttcttcctcacttt	9	20	2	10	0	4	0	2	0	3	0	6	0	5	0	1	1	1	1	1	1	4	10	rs184417488		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:17805701T>C	ENST00000382247.1	-	3	1124	c.64A>G	c.(64-66)Att>Gtt	p.I22V	DCAF16_ENST00000536863.1_Missense_Mutation_p.I22V|DCAF16_ENST00000507768.1_5'Flank	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	22					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						AGGTAACTAATATTTTCTTCT	0.433																																																	0													53	56	55					4																	17805701		2203	4300	6503	SO:0001583	missense	0			AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"DDB1 and CUL4 associated factors"	25987	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 30"	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.64A>G	4.37:g.17805701T>C	ENSP00000371682:p.Ile22Val		B3KPB7	Missense_Mutation	SNP	NULL	p.I22V	ENST00000382247.1	37	c.64	CCDS3423.1	4	.	.	.	.	.	.	.	.	.	.	T	0.026	-1.374173	0.01214	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	T;T	0.28454	1.61;1.61	3.78	-2.72	0.05968	.	.	.	.	.	T	0.12050	0.0293	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23476	-1.0187	9	0.87932	D	0	-0.9114	0.8676	0.01207	0.1873:0.1843:0.1598:0.4686	.	22	Q9NXF7	DCA16_HUMAN	V	22	ENSP00000371682:I22V;ENSP00000445736:I22V	ENSP00000371682:I22V	I	-	1	0	DCAF16	17414799	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.593000	0.05740	-0.530000	0.06349	0.459000	0.35465	ATT	DCAF16	-	NULL	ENSG00000163257		0.433	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF16	HGNC	protein_coding	OTTHUMT00000250371.1	-	0	27	0	T	NM_017741		17805701	-1	tier1	-	no_errors	ENST00000382247	ensembl	human	known	74_37	missense	20.75	42	11	SNP	0.000	C	C	17805701	T	C	17805701	3	2	146	1	0	0	0	0	1	0	0	0	4277	1406	49	4	590	4	DCAF16	4	17805701	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	11739077	17805701	173348575	68	37110											
PDS5A	23244	genome.wustl.edu	37	chr4	39900405	39900405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaacatactcacttgctatgGtcatcagttttccaaacatg	13	13	5	10	0	3	0	3	0	0	0	4	0	4	0	1	1	4	2	1	1	4	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:39900405G>T	ENST00000303538.8	-	15	2161	c.1622C>A	c.(1621-1623)aCc>aAc	p.T541N	PDS5A_ENST00000503396.1_Missense_Mutation_p.T541N	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						ACTTGCTATGGTCATCAGTTT	0.328																																																	0													84	74	77					4																	39900405		1844	4087	5931	SO:0001583	missense	0			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.1622C>A	4.37:g.39900405G>T	ENSP00000303427:p.Thr541Asn			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T541N	ENST00000303538.8	37	c.1622	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574671	0.28092	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T	0.63913	-0.07	5.28	5.28	0.74379	Armadillo-type fold (1);	0.104917	0.64402	D	0.000005	T	0.45955	0.1368	N	0.12569	0.235	0.50039	D	0.999845	B;B	0.09022	0.001;0.002	B;B	0.10450	0.003;0.005	T	0.35450	-0.9788	9	.	.	.	-7.5844	18.9171	0.92510	0.0:0.0:1.0:0.0	.	541;541	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	N	541	ENSP00000303427:T541N	.	T	-	2	0	PDS5A	39576800	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.350000	0.59392	2.466000	0.83321	0.591000	0.81541	ACC	PDS5A	-	superfamily_ARM-type_fold	ENSG00000121892		0.328	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1		0	44	0	G	NM_015200		39900405	-1			no_errors	ENST00000303538	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	39900405	G	T	39900405	3	4	146	1	0	0	0	0	1	0	0	0	11730	1261	44	3	2500	3	PDS5A	4	39900405	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	22094704	39900405	151253871	69	37111											
DCAF4L1	285429	genome.wustl.edu	37	chr4	41984513	41984513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagcagtttgctagtaCggctcctttgctgtttaatg	6	14	11	10	1	0	0	0	0	0	0	1	0	1	0	2	2	4	7	2	2	3	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:41984513C>T	ENST00000333141.5	+	1	801	c.704C>T	c.(703-705)aCg>aTg	p.T235M		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	235										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TTTGCTAGTACGGCTCCTTTG	0.562																																																	0													157	152	154					4																	41984513		2203	4300	6503	SO:0001583	missense	0			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.704C>T	4.37:g.41984513C>T	ENSP00000327796:p.Thr235Met		B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T235M	ENST00000333141.5	37	c.704	CCDS33978.1	4	.	.	.	.	.	.	.	.	.	.	C	2.953	-0.216376	0.06101	.	.	ENSG00000182308	ENST00000333141	T	0.19806	2.12	0.688	-1.02	0.10135	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.054160	0.07227	N	0.861930	T	0.07188	0.0182	N	0.03324	-0.35	0.09310	N	1	B	0.21071	0.051	B	0.04013	0.001	T	0.34601	-0.9822	10	0.20519	T	0.43	.	2.3984	0.04395	0.3222:0.354:0.3237:0.0	.	235	Q3SXM0	DC4L1_HUMAN	M	235	ENSP00000327796:T235M	ENSP00000327796:T235M	T	+	2	0	DCAF4L1	41679270	0.979000	0.34478	0.020000	0.16555	0.031000	0.12232	1.332000	0.33805	-0.381000	0.07882	0.313000	0.20887	ACG	DCAF4L1	-	superfamily_WD40_repeat_dom	ENSG00000182308		0.562	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1		0	34	0	C	NM_001029955		41984513	1			no_errors	ENST00000333141	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.151	T	T	41984513	C	T	41984513	3	4	146	1	0	0	0	0	1	0	0	0	4280	536	19	1	706	1	DCAF4L1	4	41984513	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	2084108	41984513	149169763	70	37112											
NFXL1	152518	genome.wustl.edu	37	chr4	47912867	47912867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtagtgtatgttataaacGtatttgcaagtatttttccc	11	17	8	5	1	0	0	0	0	0	0	1	1	1	0	1	0	2	6	1	0	8	9			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:47912867G>T	ENST00000507489.1	-	3	556	c.380C>A	c.(379-381)aCg>aAg	p.T127K	NFXL1_ENST00000329043.3_Missense_Mutation_p.T127K|NFXL1_ENST00000381538.3_Missense_Mutation_p.T127K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	127						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T127M(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGTTATAAACGTATTTGCAAG	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)											140	143	142					4																	47912867		2201	4298	6499	SO:0001583	missense	0			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.380C>A	4.37:g.47912867G>T	ENSP00000422037:p.Thr127Lys		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.T127K	ENST00000507489.1	37	c.380	CCDS3478.2	4	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324916	0.41197	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.39592	1.07;1.07;1.07	5.58	5.58	0.84498	.	0.150451	0.43110	D	0.000601	T	0.32882	0.0844	L	0.34521	1.04	0.51012	D	0.999907	B	0.18461	0.028	B	0.17433	0.018	T	0.21109	-1.0255	10	0.05959	T	0.93	-14.4081	19.5641	0.95386	0.0:0.0:1.0:0.0	.	127	Q6ZNB6	NFXL1_HUMAN	K	127	ENSP00000370949:T127K;ENSP00000422037:T127K;ENSP00000333113:T127K	ENSP00000333113:T127K	T	-	2	0	NFXL1	47607624	1.000000	0.71417	0.998000	0.56505	0.698000	0.40448	8.267000	0.89874	2.619000	0.88677	0.591000	0.81541	ACG	NFXL1	-	NULL	ENSG00000170448		0.348	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1		0	27	0	G	NM_152995		47912867	-1			no_errors	ENST00000381538	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	47912867	G	T	47912867	3	4	146	1	0	0	0	0	1	0	0	0	10427	1145	40	2	2439	2	NFXL1	4	47912867	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	5928354	47912867	143241409	71	37113											
FRAS1	80144	genome.wustl.edu	37	chr4	79188042	79188042	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgtatatgtgaccggggtGaggtcaggtgtcacaagcag	9	9	16	7	2	2	2	2	2	0	0	2	2	2	2	1	4	1	2	1	4	3	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:79188042G>C	ENST00000325942.6	+	8	1182	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	FRAS1_ENST00000264899.6_Missense_Mutation_p.E248Q|FRAS1_ENST00000264895.6_Missense_Mutation_p.E248Q	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	248	VWFC 4. {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						TGACCGGGGTGAGGTCAGGTG	0.483																																																	0													61	59	60					4																	79188042		2023	4191	6214	SO:0001583	missense	0			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.742G>C	4.37:g.79188042G>C	ENSP00000326330:p.Glu248Gln		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.E248Q	ENST00000325942.6	37	c.742	CCDS54772.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.802|3.802	-0.041551|-0.041551	0.07452|0.07452	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000380674|ENST00000508900	T;T;T|.	0.71934|.	-0.61;-0.61;-0.61|.	5.33|5.33	1.54|1.54	0.23209|0.23209	.|.	0.450107|.	0.23426|.	N|.	0.048317|.	T|.	0.18676|.	0.0448|.	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	N|N	1|1	B;B|.	0.17038|.	0.02;0.006|.	B;B|.	0.21360|.	0.023;0.034|.	T|.	0.28170|.	-1.0052|.	10|.	0.10636|.	T|.	0.68|.	.|.	8.0768|8.0768	0.30720|0.30720	0.142:0.4227:0.4353:0.0|0.142:0.4227:0.4353:0.0	.|.	248;248|.	E9PHH6;A2RRR8|.	.;.|.	Q|S	248|90	ENSP00000326330:E248Q;ENSP00000264895:E248Q;ENSP00000264899:E248Q|.	ENSP00000264895:E248Q|.	E|X	+|+	1|2	0|2	FRAS1|FRAS1	79407066|79407066	0.003000|0.003000	0.15002|0.15002	0.034000|0.034000	0.17996|0.17996	0.017000|0.017000	0.09413|0.09413	0.549000|0.549000	0.23329|0.23329	0.033000|0.033000	0.15463|0.15463	-0.219000|-0.219000	0.12488|0.12488	GAG|TGA	FRAS1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000138759		0.483	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	-	0	51	0	G			79188042	1	tier1	-	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	8.05	80	7	SNP	0.000	C	C	79188042	G	C	79188042	3	2	146	1	0	0	0	0	1	0	0	0	6066	1291	45	5	772	5	FRAS1	4	79188042	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	31275175	79188042	111966234	72	37114											
WDFY3	23001	genome.wustl.edu	37	chr4	85660182	85660183	+	Frame_Shift_Ins	INS	-	-	T																															cttcactaatatcttggctgINStaactaccatctggttcaat																										TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:85660182_85660183insT	ENST00000295888.4	-	40	6961_6962	c.6554_6555insA	c.(6553-6555)tacfs	p.Y2185fs	WDFY3_ENST00000322366.6_Frame_Shift_Ins_p.Y2185fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2185					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)		TATCTTGGCTGTAACTACCATC	0.411																																																	0																																										SO:0001589	frameshift_variant	0			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.6555dupA	4.37:g.85660183_85660183dupT	ENSP00000295888:p.Tyr2185fs		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Ins	INS	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y2185fs	ENST00000295888.4	37	c.6555_6554	CCDS3609.1	4																																																																																			WDFY3	-	NULL	ENSG00000163625		0.411	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2		0	58	0	0	NM_014991		85660183	-1			no_errors	ENST00000295888	ensembl	human	known	74_37	frame_shift_ins	8.40	109	10	INS	1.000:1.000	T	T	85660183	-	T	85660182	7	5	146	1	0	1	1	0	0	0	0	0	17319	1372	48	0	4141	0	WDFY3	4	85660182	Frame_Shift_Ins	INS	-	TCGA-R6-A6Y0-01B-11D-A33E-09	6472140	85660182	105494094	73	37115											
WDFY3	23001	genome.wustl.edu	37	chr4	85687071	85687071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatagactgattacttagtaGgacaacaagaatcctcatgg	16	10	8	7	0	1	3	1	1	0	2	2	4	2	4	1	2	2	1	1	2	8	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:85687071G>T	ENST00000295888.4	-	32	5487	c.5080C>A	c.(5080-5082)Cta>Ata	p.L1694I	WDFY3_ENST00000322366.6_Missense_Mutation_p.L1694I	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1694					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)		TTACTTAGTAGGACAACAAGA	0.408																																																	0													144	136	139					4																	85687071		2203	4300	6503	SO:0001583	missense	0			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.5080C>A	4.37:g.85687071G>T	ENSP00000295888:p.Leu1694Ile		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1694I	ENST00000295888.4	37	c.5080	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	8.990	0.977443	0.18812	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.58652	0.32;0.32	5.6	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	L	0.31420	0.93	0.54753	D	0.999989	P	0.36027	0.533	B	0.27796	0.083	T	0.14420	-1.0473	10	0.22706	T	0.39	.	9.0734	0.36506	0.2768:0.0:0.7232:0.0	.	1694	Q8IZQ1	WDFY3_HUMAN	I	1694	ENSP00000318466:L1694I;ENSP00000295888:L1694I	ENSP00000295888:L1694I	L	-	1	2	WDFY3	85906095	1.000000	0.71417	0.995000	0.50966	0.617000	0.37484	2.560000	0.45896	1.358000	0.45922	0.655000	0.94253	CTA	WDFY3	-	NULL	ENSG00000163625		0.408	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0	36	0	G	NM_014991		85687071	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	85687071	G	T	85687071	3	4	146	1	0	0	0	0	1	0	0	0	17319	991	35	3	5648	3	WDFY3	4	85687071	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	26889	85687071	105467205	74	37116											
SPARCL1	8404	genome.wustl.edu	37	chr4	88414816	88414816	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcctcaattttgaggtgaTaggcaatggattgagctctc	9	13	11	8	0	2	3	1	3	1	0	4	4	3	4	1	3	1	3	1	3	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:88414816T>C	ENST00000282470.6	-	4	1606	c.1136A>G	c.(1135-1137)tAt>tGt	p.Y379C	SPARCL1_ENST00000503414.1_Missense_Mutation_p.Y254C|SPARCL1_ENST00000418378.1_Missense_Mutation_p.Y379C	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	379					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTGAGGTGATAGGCAATGGA	0.458																																																	0													80	82	81					4																	88414816		2203	4300	6503	SO:0001583	missense	0			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1136A>G	4.37:g.88414816T>C	ENSP00000282470:p.Tyr379Cys		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pirsf_SPARC-like_p1,pfscan_EF_hand_dom	p.Y379C	ENST00000282470.6	37	c.1136	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348347	0.41599	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	D;D;D	0.90504	-2.68;-2.68;-2.68	4.32	3.11	0.35812	.	0.701394	0.13869	N	0.357131	D	0.91509	0.7319	L	0.36672	1.1	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.82099	-0.0625	10	0.72032	D	0.01	-6.83	7.9305	0.29899	0.0:0.0:0.209:0.791	.	379;379	Q8N4S1;Q14515	.;SPRL1_HUMAN	C	379;379;254;254	ENSP00000282470:Y379C;ENSP00000414856:Y379C;ENSP00000422903:Y254C	ENSP00000282470:Y379C	Y	-	2	0	SPARCL1	88633840	0.405000	0.25336	0.034000	0.17996	0.021000	0.10359	3.705000	0.54823	0.953000	0.37825	0.533000	0.62120	TAT	SPARCL1	-	pirsf_SPARC-like_p1	ENSG00000152583		0.458	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	-	0	20	0	T			88414816	-1	tier1	-	no_errors	ENST00000282470	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.054	C	C	88414816	T	C	88414816	3	2	146	1	0	0	0	0	1	0	0	0	15043	1406	49	4	890	4	SPARCL1	4	88414816	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	2727745	88414816	102739460	75	37117											
TET2	54790	genome.wustl.edu	37	chr4	106155750	106155750	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacagtttctgcctcttcCgtggaacacacacatggtga	9	11	9	12	1	2	1	0	1	2	0	3	2	3	2	2	2	3	2	2	2	2	3	rs142173406		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:106155750C>A	ENST00000540549.1	+	3	1511	c.651C>A	c.(649-651)tcC>tcA	p.S217S	TET2_ENST00000545826.1_Silent_p.S217S|TET2_ENST00000394764.1_Silent_p.S217S|TET2_ENST00000513237.1_Silent_p.S238S|TET2_ENST00000305737.2_Silent_p.S217S|TET2_ENST00000380013.4_Silent_p.S217S|TET2_ENST00000413648.2_Silent_p.S217S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	217					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.V218fs*32(3)		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)		CTGCCTCTTCCGTGGAACACA	0.413			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	3	Deletion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(3)											85	74	78					4																	106155750		2203	4300	6503	SO:0001819	synonymous_variant	0			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.651C>A	4.37:g.106155750C>A			B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	NULL	p.S217	ENST00000540549.1	37	c.651	CCDS47120.1	4																																																																																			TET2	-	NULL	ENSG00000168769		0.413	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2		0	41	0	C	NM_017628		106155750	1			no_errors	ENST00000380013	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.987	A	A	106155750	C	A	106155750	2	1	146	1	0	0	0	0	0	0	0	1	15817	639	23	2		2	TET2	4	106155750	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	17740934	106155750	84998526	76	37118											
MAML3	55534	genome.wustl.edu	37	chr4	140812013	140812013	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccgcagaaatgtcctttcGaattcgtttgctagtcggag	8	12	10	11	4	0	1	0	0	0	1	4	3	1	2	3	1	1	3	3	1	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:140812013G>A	ENST00000509479.2	-	2	1433	c.577C>T	c.(577-579)Cga>Tga	p.R193*	MAML3_ENST00000327122.5_Nonsense_Mutation_p.R37*|MAML3_ENST00000398940.1_5'Flank	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)					ATGTCCTTTCGAATTCGTTTG	0.473																																																	0													73	70	71					4																	140812013		1998	4164	6162	SO:0001587	stop_gained	0			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.577C>T	4.37:g.140812013G>A	ENSP00000421180:p.Arg193*			Nonsense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.R193*	ENST00000509479.2	37	c.577	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	G	45	11.846677	0.99609	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	.	.	.	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8858	0.63708	0.0:0.0:0.8476:0.1524	.	.	.	.	X	193;37	.	ENSP00000313316:R37X	R	-	1	2	MAML3	141031463	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	4.360000	0.59455	2.469000	0.83416	0.585000	0.79938	CGA	MAML3	-	NULL	ENSG00000196782		0.473	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	-	0	44	0	G			140812013	-1	tier1	-	no_errors	ENST00000509479	ensembl	human	known	74_37	nonsense	16.88	64	13	SNP	1.000	A	A	140812013	G	A	140812013	4	1	146	1	0	0	0	0	0	1	0	0	9245	1066	37	1	2847	1	MAML3	4	140812013	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	34656263	140812013	50342263	77	37119											
FGG	2266	genome.wustl.edu	37	chr4	155528013	155528013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgaaaaacttgtcactagGatcatcgccaaaatcaaagc	16	9	7	9	1	3	1	3	1	0	0	4	2	3	2	1	1	2	0	1	1	6	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:155528013G>A	ENST00000336098.3	-	8	1011	c.973C>T	c.(973-975)Cct>Tct	p.P325S	FGG_ENST00000404648.3_Missense_Mutation_p.P325S|FGG_ENST00000405164.1_Missense_Mutation_p.P333S|FGG_ENST00000407946.1_Missense_Mutation_p.P333S	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	325	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)	TTGTCACTAGGATCATCGCCA	0.473																																																	0													254	224	234					4																	155528013		2203	4300	6503	SO:0001583	missense	0				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.973C>T	4.37:g.155528013G>A	ENSP00000336829:p.Pro325Ser		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.P325S	ENST00000336098.3	37	c.973	CCDS3788.1	4	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929911	0.34096	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.79	1.55	0.23275	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.151034	0.64402	N	0.000010	T	0.66954	0.2842	M	0.78801	2.425	0.58432	D	0.999999	B;P;P;P;P	0.40602	0.247;0.637;0.723;0.723;0.676	B;B;B;B;B	0.38327	0.187;0.187;0.271;0.271;0.177	T	0.59037	-0.7529	10	0.16420	T	0.52	.	5.8618	0.18752	0.0749:0.293:0.5098:0.1223	.	222;333;325;333;325	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	S	325;333;325;333	ENSP00000384860:P325S;ENSP00000384101:P333S;ENSP00000336829:P325S;ENSP00000384552:P333S	ENSP00000336829:P325S	P	-	1	0	FGG	155747463	1.000000	0.71417	0.997000	0.53966	0.568000	0.35870	0.988000	0.29616	0.215000	0.20761	0.650000	0.86243	CCT	FGG	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000171557		0.473	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	HGNC	protein_coding	OTTHUMT00000317581.1	-	0	51	0	G	NM_021870		155528013	-1	tier1	-	no_errors	ENST00000336098	ensembl	human	known	74_37	missense	13.92	68	11	SNP	1.000	A	A	155528013	G	A	155528013	3	1	146	1	0	0	0	0	1	0	0	0	5892	1174	41	3	415	3	FGG	4	155528013	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	14716000	155528013	35626263	78	37120											
GALNTL6	442117	genome.wustl.edu	37	chr4	172735821	172735821	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgttggtctctggtctctGtacaaggataagcacctggt	9	12	11	9	1	2	0	0	0	2	0	4	1	2	1	1	4	3	3	1	4	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:172735821G>T	ENST00000506823.1	+	2	747	c.90G>T	c.(88-90)ctG>ctT	p.L30L	GALNTL6_ENST00000511251.1_Silent_p.L30L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	30					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						TCTGGTCTCTGTACAAGGATA	0.483																																																	0													100	98	99					4																	172735821		2203	4300	6503	SO:0001819	synonymous_variant	0				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.90G>T	4.37:g.172735821G>T			Q2L4S6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L30	ENST00000506823.1	37	c.90	CCDS34104.1	4																																																																																			GALNTL6	-	NULL	ENSG00000174473		0.483	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	-	0	43	0	G	NM_001034845		172735821	1	tier1	-	no_errors	ENST00000506823	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.953	T	T	172735821	G	T	172735821	2	4	146	1	0	0	0	0	0	0	0	1	6250	1364	48	3		3	GALNTL6	4	172735821	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	17207808	172735821	18418455	79	37121											
WDR17	116966	genome.wustl.edu	37	chr4	177071685	177071685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggacaggatgatagcttaCttcctcagaactactgcaaa	15	9	8	9	0	1	2	1	1	0	1	2	4	2	4	1	2	5	2	1	2	6	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr4:177071685C>T	ENST00000280190.4	+	17	2473	c.2317C>T	c.(2317-2319)Ctt>Ttt	p.L773F	WDR17_ENST00000507824.2_Missense_Mutation_p.L756F|WDR17_ENST00000393643.2_Missense_Mutation_p.L749F|WDR17_ENST00000508596.1_Missense_Mutation_p.L749F			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	773										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)		TGATAGCTTACTTCCTCAGAA	0.338																																																	0													110	107	108					4																	177071685		2203	4300	6503	SO:0001583	missense	0			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.2317C>T	4.37:g.177071685C>T	ENSP00000280190:p.Leu773Phe		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L773F	ENST00000280190.4	37	c.2317	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.136518|4.136518	0.77662|0.77662	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.61040|.	0.18;0.2;0.14|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.77765|0.77765	0.4179|0.4179	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.997|.	T|T	0.76377|0.76377	-0.2981|-0.2981	10|5	0.54805|.	T|.	0.06|.	-12.3828|-12.3828	19.8155|19.8155	0.96566|0.96566	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	749;773|.	E7EQX0;Q8IZU2|.	.;WDR17_HUMAN|.	F|I	749;749;773;756|15	ENSP00000422763:L749F;ENSP00000377258:L749F;ENSP00000280190:L773F|.	ENSP00000280190:L773F|.	L|T	+|+	1|2	0|0	WDR17|WDR17	177308679|177308679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	5.513000|5.513000	0.67037|0.67037	2.691000|2.691000	0.91804|0.91804	0.563000|0.563000	0.77884|0.77884	CTT|ACT	WDR17	-	NULL	ENSG00000150627		0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0	40	0	C			177071685	1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	missense	13.16	66	10	SNP	1.000	T	T	177071685	C	T	177071685	3	4	146	1	0	0	0	0	1	0	0	0	17326	565	20	3	2379	3	WDR17	4	177071685	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	4335864	177071685	14082591	80	37122											
CDH9	1007	genome.wustl.edu	37	chr5	26902614	26902614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcctggcatctggatcGtatgctgtaacctgtccaat	7	15	9	10	1	1	0	0	0	1	0	4	1	3	1	3	2	2	5	3	2	3	4	rs150876106		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:26902614G>A	ENST00000231021.4	-	7	1396	c.1224C>T	c.(1222-1224)taC>taT	p.Y408Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	408	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)	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						CATCTGGATCGTATGCTGTAA	0.323																																					Melanoma(8;187 585 15745 40864 52829)												0								G		1,4405	2.1+/-5.4	0,1,2202	106	99	101		1224	0.2	1	5	dbSNP_134	101	0,8598		0,0,4299	no	coding-synonymous	CDH9	NM_016279.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		408/790	26902614	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			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.1224C>T	5.37:g.26902614G>A			Q3B7I5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y408	ENST00000231021.4	37	c.1224	CCDS3893.1	5																																																																																			CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113100		0.323	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0	31	0	G	NM_016279		26902614	-1	tier1	rs150876106	no_errors	ENST00000231021	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	A	A	26902614	G	A	26902614	2	1	146	1	0	0	0	0	0	0	0	1	3124	1140	40	1		1	CDH9	5	26902614	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09		26902614	154012646	81	37123											
SPEF2	79925	genome.wustl.edu	37	chr5	35709149	35709149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctcctcctcctgaacCagaaaaagagaaggaaattc	14	8	7	12	0	0	3	0	1	0	2	5	5	4	4	5	1	2	1	5	1	5	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:35709149C>A	ENST00000356031.3	+	19	2919	c.2765C>A	c.(2764-2766)cCa>cAa	p.P922Q	SPEF2_ENST00000440995.2_Missense_Mutation_p.P917Q|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.P917Q	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	922					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)			CCTCCTGAACCAGAAAAAGAG	0.428																																																	0													86	84	85					5																	35709149		1868	4105	5973	SO:0001583	missense	0			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.2765C>A	5.37:g.35709149C>A	ENSP00000348314:p.Pro922Gln		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.P922Q	ENST00000356031.3	37	c.2765	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564698	0.45694	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995	T;T;T	0.09255	3.36;3.0;3.41	5.82	4.95	0.65309	.	0.456346	0.20991	N	0.082024	T	0.15392	0.0371	L	0.59436	1.845	0.80722	D	1	P;P;P	0.39883	0.567;0.693;0.567	B;P;B	0.44518	0.265;0.452;0.177	T	0.00609	-1.1646	10	0.36615	T	0.2	.	9.8431	0.41010	0.0:0.9092:0.0:0.0908	.	917;917;922	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	Q	922;917;917	ENSP00000348314:P922Q;ENSP00000421593:P917Q;ENSP00000412125:P917Q	ENSP00000348314:P922Q	P	+	2	0	SPEF2	35744906	0.997000	0.39634	0.996000	0.52242	0.779000	0.44077	2.105000	0.41825	2.754000	0.94517	0.650000	0.86243	CCA	SPEF2	-	NULL	ENSG00000152582		0.428	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	29	0	C	NM_144722		35709149	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.998	A	A	35709149	C	A	35709149	3	1	146	1	0	0	0	0	1	0	0	0	15082	594	21	3	2860	3	SPEF2	5	35709149	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	8806535	35709149	145206111	82	37124											
SPEF2	79925	genome.wustl.edu	37	chr5	35795828	35795828	+	Missense_Mutation	SNP	T	T	G	0	1	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	ggtctgtggtttacaggagaTgaagatataaaaattccaga	15	11	11	4	0	1	4	0	1	1	3	2	5	2	4	1	3	1	1	1	3	6	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:35795828T>G	ENST00000356031.3	+	33	4915	c.4761T>G	c.(4759-4761)gaT>gaG	p.D1587E	SPEF2_ENST00000440995.2_Missense_Mutation_p.D1582E|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.D384E	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1587					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)			TTACAGGAGATGAAGATATAA	0.348																																																	0													111	104	106					5																	35795828		1806	4063	5869	SO:0001583	missense	0			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.4761T>G	5.37:g.35795828T>G	ENSP00000348314:p.Asp1587Glu		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.D1587E	ENST00000356031.3	37	c.4761	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	T	16.06	3.014561	0.54468	.	.	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.63744	-0.06;-0.06;-0.06	5.52	1.43	0.22495	.	0.170388	0.51477	N	0.000092	T	0.49762	0.1576	L	0.53249	1.67	0.25632	N	0.986294	B;B;B	0.30236	0.274;0.192;0.031	B;B;B	0.34722	0.188;0.054;0.014	T	0.27297	-1.0078	10	0.19590	T	0.45	.	3.6589	0.08232	0.1314:0.0747:0.1367:0.6572	.	384;1582;1587	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	E	1587;1582;384	ENSP00000348314:D1587E;ENSP00000412125:D1582E;ENSP00000303843:D384E	ENSP00000303843:D384E	D	+	3	2	SPEF2	35831585	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	0.975000	0.29449	0.434000	0.26340	0.383000	0.25322	GAT	SPEF2	-	NULL	ENSG00000152582		0.348	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	33	0	T	NM_144722		35795828	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	11.49	77	10	SNP	1.000	G	G	35795828	T	G	35795828	3	3	146	1	0	0	0	0	1	0	0	0	15082	1461	51	4	4912	4	SPEF2	5	35795828	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	86679	35795828	145119432	83	37125											
F2R	2149	genome.wustl.edu	37	chr5	76028843	76028843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgaaaccctgctcgaaGgctactatgcctactacttc	11	11	6	13	1	1	1	1	1	0	0	3	2	1	1	2	1	6	2	2	1	7	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:76028843G>T	ENST00000319211.4	+	2	1058	c.793G>T	c.(793-795)Ggc>Tgc	p.G265C		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	265					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)	p.G265C(1)		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)	CCTGCTCGAAGGCTACTATGC	0.502																																																	1	Substitution - Missense(1)	lung(1)											129	134	132					5																	76028843		2203	4300	6503	SO:0001583	missense	0			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.793G>T	5.37:g.76028843G>T	ENSP00000321326:p.Gly265Cys		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.G265C	ENST00000319211.4	37	c.793	CCDS4032.1	5	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872623	0.51695	.	.	ENSG00000181104	ENST00000319211	T	0.37411	1.2	4.71	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.680368	0.15730	N	0.247482	T	0.53514	0.1801	M	0.74647	2.275	0.33361	D	0.572296	D	0.76494	0.999	D	0.65323	0.934	T	0.62882	-0.6760	10	0.40728	T	0.16	-24.3362	8.3041	0.32032	0.273:0.0:0.727:0.0	.	265	P25116	PAR1_HUMAN	C	265	ENSP00000321326:G265C	ENSP00000321326:G265C	G	+	1	0	F2R	76064599	0.000000	0.05858	0.430000	0.26722	0.965000	0.64279	0.456000	0.21859	1.189000	0.43028	0.561000	0.74099	GGC	F2R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181104		0.502	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2R	HGNC	protein_coding	OTTHUMT00000254068.2		0	14	0	G			76028843	1			no_errors	ENST00000319211	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.278	T	T	76028843	G	T	76028843	3	4	146	1	0	0	0	0	1	0	0	0	5359	1000	35	3	799	3	F2R	5	76028843	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	40233015	76028843	104886417	84	37126											
GPR98	84059	genome.wustl.edu	37	chr5	90041472	90041472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagtaaatatccttgatGatacagttccagaaaaagaa	18	10	7	6	0	0	4	0	2	0	2	2	4	2	4	2	0	2	3	2	0	8	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:90041472G>T	ENST00000405460.2	+	52	10930	c.10834G>T	c.(10834-10836)Gat>Tat	p.D3612Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3612	Calx-beta 23. {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)	p.D3612N(1)		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)		TATCCTTGATGATACAGTTCC	0.348																																																	1	Substitution - Missense(1)	lung(1)											81	76	78					5																	90041472		1826	4085	5911	SO:0001583	missense	0			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.10834G>T	5.37:g.90041472G>T	ENSP00000384582:p.Asp3612Tyr		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.D3612Y	ENST00000405460.2	37	c.10834	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.849604|4.849604	0.91277|0.91277	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.57107|.	0.42|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Na-Ca exchanger/integrin-beta4 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86381|0.86381	0.5919|0.5919	M|M	0.91459|0.91459	3.21|3.21	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.995|.	D|D	0.88589|0.88589	0.3142|0.3142	10|5	0.87932|.	D|.	0|.	.|.	19.6119|19.6119	0.95610|0.95610	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3612;3612|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	Y|I	3612|1177	ENSP00000384582:D3612Y|.	ENSP00000296619:D3612Y|.	D|M	+|+	1|3	0|0	GPR98|GPR98	90077228|90077228	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.982000|0.982000	0.71751|0.71751	9.455000|9.455000	0.97625|0.97625	2.648000|2.648000	0.89879|0.89879	0.563000|0.563000	0.77884|0.77884	GAT|ATG	GPR98	-	pfam_Calx_beta	ENSG00000164199		0.348	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0	31	0	G	NM_032119		90041472	1			no_errors	ENST00000405460	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	90041472	G	T	90041472	3	4	146	1	0	0	0	0	1	0	0	0	6748	1290	45	3	11040	3	GPR98	5	90041472	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	14012629	90041472	90873788	85	37127											
SPATA9	83890	genome.wustl.edu	37	chr5	94994532	94994532	+	Missense_Mutation	SNP	T	T	C	0	1	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	aaaaggcttttctacaatttTcactctcctctctgttttgc	8	18	4	11	0	4	0	1	0	3	0	6	0	4	0	1	1	2	2	1	1	4	7			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:94994532T>C	ENST00000274432.8	-	5	701	c.560A>G	c.(559-561)gAa>gGa	p.E187G	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	187					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TCTACAATTTTCACTCTCCTC	0.413																																																	0													130	121	124					5																	94994532		2203	4299	6502	SO:0001583	missense	0			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.560A>G	5.37:g.94994532T>C	ENSP00000274432:p.Glu187Gly		A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	NULL	p.E187G	ENST00000274432.8	37	c.560	CCDS4076.1	5	.	.	.	.	.	.	.	.	.	.	T	6.749	0.507005	0.12883	.	.	ENSG00000145757	ENST00000274432	T	0.32988	1.43	5.35	2.86	0.33363	.	0.572586	0.16992	N	0.191242	T	0.16938	0.0407	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.12477	-1.0546	10	0.45353	T	0.12	-5.6571	4.634	0.12516	0.1676:0.0906:0.0:0.7418	.	187	Q9BWV2	SPAT9_HUMAN	G	187	ENSP00000274432:E187G	ENSP00000274432:E187G	E	-	2	0	SPATA9	95020288	0.001000	0.12720	0.005000	0.12908	0.023000	0.10783	0.448000	0.21726	1.071000	0.40834	0.519000	0.50382	GAA	SPATA9	-	NULL	ENSG00000145757		0.413	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA9	HGNC	protein_coding	OTTHUMT00000304036.1	-	0	29	0	T	NM_031952		94994532	-1	tier1	-	no_errors	ENST00000274432	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.001	C	C	94994532	T	C	94994532	3	2	146	1	0	0	0	0	1	0	0	0	15063	1783	62	4	208	4	SPATA9	5	94994532	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	4953060	94994532	85920728	86	37128											
TCF7	6932	genome.wustl.edu	37	chr5	133473797	133473797	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcccccaactctctctctaCgaacatttcaacagcccaca	11	9	3	18	1	3	0	1	0	2	0	6	1	4	0	3	0	5	0	3	0	4	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:133473797C>T	ENST00000321584.4	+	4	685	c.489C>T	c.(487-489)taC>taT	p.Y163Y	TCF7_ENST00000432532.2_Silent_p.Y48Y|TCF7_ENST00000520958.1_Silent_p.Y48Y|TCF7_ENST00000378560.4_Silent_p.Y48Y|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000321603.6_Silent_p.Y163Y|TCF7_ENST00000395029.1_Silent_p.Y163Y|TCF7_ENST00000395023.1_Silent_p.Y48Y|TCF7_ENST00000378564.1_Silent_p.Y163Y|TCF7_ENST00000518915.1_Silent_p.Y48Y|TCF7_ENST00000342854.5_Silent_p.Y163Y			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	163					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTCTCTCTACGAACATTTCA	0.592																																																	0													129	120	123					5																	133473797		2203	4300	6503	SO:0001819	synonymous_variant	0			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.489C>T	5.37:g.133473797C>T			B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	NULL	p.T66M	ENST00000321584.4	37	c.197		5																																																																																			TCF7	-	NULL	ENSG00000081059		0.592	TCF7-201	KNOWN	basic	protein_coding	TCF7	HGNC	protein_coding			0	60	0	C	NM_201634		133473797	1			no_errors	ENST00000517741	ensembl	human	known	74_37	missense	5.00	56	3	SNP	0.995	T	T	133473797	C	T	133473797	2	4	146	1	0	0	0	0	0	0	0	1	15743	547	19	1		1	TCF7	5	133473797	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	38479265	133473797	47441463	87	37129											
PSD2	84249	genome.wustl.edu	37	chr5	139193041	139193041	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggatgagagcgacagctgCgtcagcttcgaggcccccct	8	6	13	14	4	1	1	1	1	0	1	2	5	1	2	3	2	4	2	3	2	0	1	rs529058855		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:139193041C>T	ENST00000274710.3	+	3	724	c.519C>T	c.(517-519)tgC>tgT	p.C173C		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	173					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)			GCGACAGCTGCGTCAGCTTCG	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		16366	0		0	False		,,,				2504	0																0													40	43	42					5																	139193041		2203	4300	6503	SO:0001819	synonymous_variant	0			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.519C>T	5.37:g.139193041C>T			D3DQD3|Q8N3J8	Silent	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.C173	ENST00000274710.3	37	c.519	CCDS4216.1	5																																																																																			PSD2	-	NULL	ENSG00000146005		0.647	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	-	0	45	0	C	NM_032289		139193041	1	tier1	-	no_errors	ENST00000274710	ensembl	human	known	74_37	silent	14.81	46	8	SNP	0.704	T	T	139193041	C	T	139193041	2	4	146	1	0	0	0	0	0	0	0	1	12689	776	27	1		1	PSD2	5	139193041	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	5719244	139193041	41722219	88	37130											
STK32A	202374	genome.wustl.edu	37	chr5	146730628	146730628	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttcttctctctctgcagGgcacgtgcacatcacagatt	7	13	9	12	1	4	1	1	0	3	1	6	1	4	1	0	2	2	4	0	2	0	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:146730628G>C	ENST00000397936.3	+	7	806	c.473G>C	c.(472-474)gGg>gCg	p.G158A	STK32A_ENST00000398523.3_Splice_Site_p.G158A	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCTGCAGGGCACGTGCAC	0.468																																																	0													80	69	72					5																	146730628		1568	3582	5150	SO:0001630	splice_region_variant	0				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.473-1G>C	5.37:g.146730628G>C			B3KSY0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G158A	ENST00000397936.3	37	c.473	CCDS47299.1	5	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996477	0.74818	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	T;T	0.30981	1.51;1.51	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45606	D	0.000346	T	0.53658	0.1810	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.79784	0.993;0.905;0.989	T	0.51513	-0.8696	9	.	.	.	.	15.8829	0.79216	0.0:0.0:1.0:0.0	.	158;158;158	B7Z9H7;Q8WU08;Q8WU08-3	.;ST32A_HUMAN;.	A	158	ENSP00000381030:G158A;ENSP00000381535:G158A	.	G	+	2	0	STK32A	146710821	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	6.408000	0.73285	2.489000	0.83994	0.561000	0.74099	GGG	STK32A	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000169302		0.468	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32A	HGNC	protein_coding	OTTHUMT00000373306.1	-	0	22	0	G	NM_145001	Missense_Mutation	146730628	1	tier1	-	no_errors	ENST00000397936	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	C	C	146730628	G	C	146730628	5	2	146	1	0	0	0	0	0	0	1	0	15344	1246	43	5	528	5	STK32A	5	146730628	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	7537587	146730628	34184632	89	37131											
SLC6A7	6534	genome.wustl.edu	37	chr5	149580709	149580709	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatgctgctggtccgcGgagtcaccctcccaggggcc	4	8	13	16	2	2	0	2	0	0	0	4	1	4	1	4	4	3	3	4	4	0	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:149580709G>T	ENST00000230671.2	+	6	1152	c.781G>T	c.(781-783)Gga>Tga	p.G261*	SLC6A7_ENST00000524041.1_Nonsense_Mutation_p.G261*	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	261					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GCTGGTCCGCGGAGTCACCCT	0.602																																																	0													144	114	124					5																	149580709		2203	4300	6503	SO:0001587	stop_gained	0			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.781G>T	5.37:g.149580709G>T	ENSP00000230671:p.Gly261*		Q0VG81|Q52LU6	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.G261*	ENST00000230671.2	37	c.781	CCDS4305.1	5	.	.	.	.	.	.	.	.	.	.	G	42	9.214436	0.99103	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8226	0.92103	0.0:0.0:1.0:0.0	.	.	.	.	X	261	.	ENSP00000230671:G261X	G	+	1	0	SLC6A7	149560902	1.000000	0.71417	0.912000	0.35992	0.973000	0.67179	9.869000	0.99810	2.436000	0.82500	0.561000	0.74099	GGA	SLC6A7	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000011083		0.602	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	HGNC	protein_coding	OTTHUMT00000252325.1		0	25	0	G	NM_014228		149580709	1			no_errors	ENST00000230671	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T	T	149580709	G	T	149580709	4	4	146	1	0	0	0	0	0	1	0	0	14734	1117	39	2	803	2	SLC6A7	5	149580709	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	2850081	149580709	31334551	90	37132											
TNIP1	10318	genome.wustl.edu	37	chr5	150410286	150410286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggtctcactgaggcccCtcacggtcattttttggaga	7	13	10	11	1	4	2	3	1	2	1	5	3	4	2	2	4	0	0	2	4	0	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:150410286C>A	ENST00000389378.2	-	18	2487	c.1899G>T	c.(1897-1899)gaG>gaT	p.E633D	TNIP1_ENST00000520931.1_Missense_Mutation_p.E580D|TNIP1_ENST00000523338.1_Intron|TNIP1_ENST00000523200.1_Missense_Mutation_p.E569D|TNIP1_ENST00000524280.1_Missense_Mutation_p.R537M|TNIP1_ENST00000518977.1_Intron|TNIP1_ENST00000521423.1_5'Flank|TNIP1_ENST00000521591.1_Missense_Mutation_p.E633D|TNIP1_ENST00000315050.7_Missense_Mutation_p.E633D|TNIP1_ENST00000522226.1_Missense_Mutation_p.E633D	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	633	Pro-rich.				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)			ACTGAGGCCCCTCACGGTCAT	0.443																																																	0													83	82	83					5																	150410286		2203	4300	6503	SO:0001583	missense	0			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.1899G>T	5.37:g.150410286C>A	ENSP00000374029:p.Glu633Asp		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E633D	ENST00000389378.2	37	c.1899	CCDS34280.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.11|10.11	1.261281|1.261281	0.23051|0.23051	.|.	.|.	ENSG00000145901|ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000523200|ENST00000544828;ENST00000524280	T;T;T;T;T;T|T	0.11712|0.62788	2.77;2.77;2.77;2.77;2.77;2.75|-0.0	5.44|5.44	-2.34|-2.34	0.06704|0.06704	.|.	0.637227|.	0.14743|.	N|.	0.301049|.	T|T	0.38532|0.38532	0.1044|0.1044	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|B	0.09022|0.12013	0.002;0.001|0.005	B;B|B	0.08055|0.15870	0.003;0.003|0.014	T|T	0.22730|0.22730	-1.0208|-1.0208	10|9	0.16420|0.46703	T|T	0.52|0.11	-2.4862|-2.4862	0.3226|0.3226	0.00305|0.00305	0.2581:0.2521:0.2527:0.237|0.2581:0.2521:0.2527:0.237	.|.	569;633|537	E7ET96;Q15025|E7EPY1	.;TNIP1_HUMAN|.	D|M	580;633;633;526;595;633;633;569|494;537	ENSP00000429891:E580D;ENSP00000374029:E633D;ENSP00000317891:E633D;ENSP00000428187:E633D;ENSP00000430760:E633D;ENSP00000431105:E569D|ENSP00000429912:R537M	ENSP00000317891:E633D|ENSP00000429912:R537M	E|R	-|-	3|2	2|0	TNIP1|TNIP1	150390479|150390479	0.000000|0.000000	0.05858|0.05858	0.208000|0.208000	0.23602|0.23602	0.855000|0.855000	0.48748|0.48748	-1.016000|-1.016000	0.03633|0.03633	-0.488000|-0.488000	0.06726|0.06726	0.448000|0.448000	0.29417|0.29417	GAG|AGG	TNIP1	-	NULL	ENSG00000145901		0.443	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP1	HGNC	protein_coding	OTTHUMT00000374914.1		0	27	0	C	NM_006058		150410286	-1			no_errors	ENST00000315050	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.047	A	A	150410286	C	A	150410286	3	1	146	1	0	0	0	0	1	0	0	0	16361	680	24	3	15	3	TNIP1	5	150410286	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	829577	150410286	30504974	91	37133											
ANXA6	309	genome.wustl.edu	37	chr5	150497341	150497341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagagaaatgaggatcCtcctgaagtggccagatgtg	11	8	14	8	0	0	4	0	2	0	2	2	6	2	5	4	3	0	0	4	3	2	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:150497341C>A	ENST00000354546.5	-	19	1723	c.1496G>T	c.(1495-1497)aGg>aTg	p.R499M	ANXA6_ENST00000377751.5_Missense_Mutation_p.R156M|ANXA6_ENST00000521512.1_Missense_Mutation_p.R292M|ANXA6_ENST00000523714.1_Missense_Mutation_p.R467M|ANXA6_ENST00000356496.5_Missense_Mutation_p.R499M	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	499					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGAGGATCCTCCTGAAGTG	0.582																																																	0													50	55	53					5																	150497341		1933	4137	6070	SO:0001583	missense	0			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1496G>T	5.37:g.150497341C>A	ENSP00000346550:p.Arg499Met		B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV	p.R499M	ENST00000354546.5	37	c.1496	CCDS47315.1	5	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388396	0.82902	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.03717	3.83;3.83;3.83;3.83;3.83	5.25	5.25	0.73442	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.70935	0.971;0.962;0.962	T	0.10660	-1.0620	10	0.87932	D	0	.	17.6098	0.88049	0.0:1.0:0.0:0.0	.	292;499;499	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	M	499;467;156;499;292;373	ENSP00000346550:R499M;ENSP00000430517:R467M;ENSP00000366980:R156M;ENSP00000348889:R499M;ENSP00000430420:R292M	ENSP00000346550:R499M	R	-	2	0	ANXA6	150477534	1.000000	0.71417	0.993000	0.49108	0.803000	0.45373	6.533000	0.73829	2.438000	0.82558	0.561000	0.74099	AGG	ANXA6	-	pfam_Annexin_repeat,smart_Annexin_repeat	ENSG00000197043		0.582	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANXA6	HGNC	protein_coding	OTTHUMT00000377668.2		0	48	0	C	NM_001155		150497341	-1			no_errors	ENST00000354546	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	A	A	150497341	C	A	150497341	3	1	146	1	0	0	0	0	1	0	0	0	722	681	24	3	557	3	ANXA6	5	150497341	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	87055	150497341	30417919	92	37134											
LMAN2	10960	genome.wustl.edu	37	chr5	176765595	176765595	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcatttcccagtctttGaggaagcacggctggaggga	9	9	14	9	2	1	1	0	1	1	0	2	4	2	4	1	4	2	3	1	4	1	2	rs547434469		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr5:176765595G>T	ENST00000303127.7	-	3	531	c.327C>A	c.(325-327)ctC>ctA	p.L109L	LMAN2_ENST00000506310.1_5'UTR|RN7SL562P_ENST00000582768.1_RNA|LMAN2_ENST00000515209.1_Silent_p.L109L	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	109	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CCCAGTCTTTGAGGAAGCACG	0.627																																																	0													222	185	197					5																	176765595		2203	4300	6503	SO:0001819	synonymous_variant	0			U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"chromosome 5 open reading frame 8"	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.327C>A	5.37:g.176765595G>T			Q53HH1	Silent	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.L109	ENST00000303127.7	37	c.327	CCDS4417.1	5																																																																																			LMAN2	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	ENSG00000169223		0.627	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN2	HGNC	protein_coding	OTTHUMT00000253434.1		0	19	0	G	NM_006816		176765595	-1			no_errors	ENST00000303127	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T	T	176765595	G	T	176765595	2	4	146	1	0	0	0	0	0	0	0	1	8868	1277	45	3		3	LMAN2	5	176765595	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	26268254	176765595	4149665	93	37135											
RANBP9	10048	genome.wustl.edu	37	chr6	13632610	13632610	+	Frame_Shift_Del	DEL	T	T	-																															aaatatattcaccttcaacaTttttttgtttgcagtgttct																										TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:13632610delT	ENST00000011619.3	-	12	1997	c.1939delA	c.(1939-1941)atgfs	p.M647fs	RANBP9_ENST00000539980.1_Frame_Shift_Del_p.M418fs|NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	647	Interaction with FMR1.				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)			ACCTTCAACATTTTTTTGTTT	0.378																																																	0													147	140	143					6																	13632610		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1939delA	6.37:g.13632610delT	ENSP00000011619:p.Met647fs		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.M647fs	ENST00000011619.3	37	c.1939	CCDS4529.1	6																																																																																			RANBP9	-	pfam_CTLH/CRA,smart_CRA_dom	ENSG00000010017		0.378	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP9	HGNC	protein_coding	OTTHUMT00000042373.1		0	26	0	T			13632610	-1	tier1		no_errors	ENST00000011619	ensembl	human	known	74_37	frame_shift_del	10.71	25	3	DEL	1.000	-	-	13632610	T	-	13632610	7	5	146	1	0	1	0	1	0	0	0	0	13077	1493	52	0	262	0	RANBP9	6	13632610	Frame_Shift_Del	DEL	T	TCGA-R6-A6Y0-01B-11D-A33E-09		13632610	157482457	94	37136											
BTN3A3	10384	genome.wustl.edu	37	chr6	26444241	26444241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccatggtgggtgaagacGctgatctgccctgtcacctg	6	10	14	11	1	2	3	1	2	1	1	2	3	2	3	3	3	1	1	3	3	1	0	rs376102561		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:26444241G>A	ENST00000244519.2	+	4	385	c.142G>A	c.(142-144)Gct>Act	p.A48T	BTN3A3_ENST00000339789.4_Missense_Mutation_p.A6T|BTN3A3_ENST00000361232.3_Missense_Mutation_p.A6T	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	48	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.A48T(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GGGTGAAGACGCTGATCTGCC	0.572																																																	1	Substitution - Missense(1)	endometrium(1)											78	71	73					6																	26444241		2200	4293	6493	SO:0001583	missense	0			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.142G>A	6.37:g.26444241G>A	ENSP00000244519:p.Ala48Thr		B4DWI7|E9PCP5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.A48T	ENST00000244519.2	37	c.142	CCDS4611.1	6	.	.	.	.	.	.	.	.	.	.	G	8.645	0.896819	0.17686	.	.	ENSG00000111801	ENST00000494393;ENST00000482451;ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000487627;ENST00000496719;ENST00000490254;ENST00000476281;ENST00000487272	T;T;T;T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	2.74	-0.119	0.13543	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24967	0.0606	L	0.35644	1.08	0.09310	N	1	P;B	0.40398	0.716;0.028	B;B	0.32149	0.141;0.012	T	0.05582	-1.0876	9	0.29301	T	0.29	.	4.7457	0.13036	0.178:0.0:0.6397:0.1824	.	6;48	E9PCP5;O00478	.;BT3A3_HUMAN	T	48;30;48;6;6;6;6;48;6;6;6	ENSP00000417234:A48T;ENSP00000419312:A30T;ENSP00000244519:A48T;ENSP00000344968:A6T;ENSP00000417717:A6T;ENSP00000355238:A6T;ENSP00000420339:A6T;ENSP00000420147:A48T;ENSP00000419736:A6T;ENSP00000419445:A6T	ENSP00000244519:A48T	A	+	1	0	BTN3A3	26552220	0.000000	0.05858	0.000000	0.03702	0.418000	0.31294	-1.087000	0.03383	-0.050000	0.13356	-0.226000	0.12346	GCT	BTN3A3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000111801		0.572	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2		0	51	0	G	NM_006994		26444241	1			no_errors	ENST00000244519	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	A	A	26444241	G	A	26444241	3	1	146	1	0	0	0	0	1	0	0	0	1568	1087	38	1	148	1	BTN3A3	6	26444241	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	12811631	26444241	144670826	95	37137											
SKIV2L	6499	genome.wustl.edu	37	chr6	31931788	31931788	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggccgctgtgatgagcaGgcctcaggcctcacctccct	5	7	13	16	2	2	2	2	2	0	0	3	2	3	2	5	4	1	2	5	4	0	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:31931788G>A	ENST00000375394.2	+	16	1859	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	SKIV2L_ENST00000544581.1_Silent_p.Q389Q	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	582					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						GTGATGAGCAGGCCTCAGGCC	0.657																																																	0													110	115	113					6																	31931788		1510	2709	4219	SO:0001819	synonymous_variant	0				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.1746G>A	6.37:g.31931788G>A			O15005|Q12902|Q15476|Q5ST66	Silent	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q582	ENST00000375394.2	37	c.1746	CCDS4731.1	6																																																																																			SKIV2L	-	superfamily_P-loop_NTPase,pirsf_RNA_helicase_ATP-dep_SK12/DOB1	ENSG00000204351		0.657	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	HGNC	protein_coding	OTTHUMT00000076264.3	-	0	31	0	G			31931788	1	tier1	-	no_errors	ENST00000375394	ensembl	human	known	74_37	silent	15.25	50	9	SNP	1.000	A	A	31931788	G	A	31931788	2	1	146	1	0	0	0	0	0	0	0	1	14404	991	35	3		3	SKIV2L	6	31931788	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	5487547	31931788	139183279	96	37138											
SKIV2L	6499	genome.wustl.edu	37	chr6	31937096	31937096	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggccaagcggattggtGaggtccaggtggcttgtggc	5	10	18	8	1	0	1	0	1	0	0	1	2	1	2	2	7	1	1	2	7	1	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:31937096G>T	ENST00000375394.2	+	27	3552	c.3439G>T	c.(3439-3441)Gag>Tag	p.E1147*	SKIV2L_ENST00000544581.1_Nonsense_Mutation_p.E954*|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000478221.1_5'Flank|STK19_ENST00000375333.2_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1147					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						GCGGATTGGTGAGGTCCAGGT	0.577																																																	0													117	118	118					6																	31937096		2203	4300	6503	SO:0001587	stop_gained	0				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.3439G>T	6.37:g.31937096G>T	ENSP00000364543:p.Glu1147*		O15005|Q12902|Q15476|Q5ST66	Nonsense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1147*	ENST00000375394.2	37	c.3439	CCDS4731.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.887629|8.887629	0.98990|0.98990	.|.	.|.	ENSG00000204351|ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581|ENST00000491994	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.178675|.	0.48286|.	D|.	0.000189|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.14656|.	T|.	0.56|.	-29.0832|-29.0832	12.7175|12.7175	0.57123|0.57123	0.0:0.2811:0.7189:0.0|0.0:0.2811:0.7189:0.0	.|.	.|.	.|.	.|.	X|L	1147;989;954|145	.|.	ENSP00000364543:E1147X|.	E|X	+|+	1|2	0|2	SKIV2L|SKIV2L	32045075|32045075	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.401000|3.401000	0.52601|0.52601	2.460000|2.460000	0.83146|0.83146	0.655000|0.655000	0.94253|0.94253	GAG|TGA	SKIV2L	-	pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1	ENSG00000204351		0.577	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	HGNC	protein_coding	OTTHUMT00000076264.3		0	19	0	G			31937096	1			no_errors	ENST00000375394	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T	T	31937096	G	T	31937096	4	4	146	1	0	0	0	0	0	1	0	0	14404	1291	45	3	3545	3	SKIV2L	6	31937096	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	5308	31937096	139177971	97	37139											
TNXB	7148	genome.wustl.edu	37	chr6	32030234	32030234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaggttctgtcgaggctgGggccatttcttcatcctttc	4	14	13	10	1	3	0	1	0	2	0	6	2	4	1	2	5	0	2	2	5	0	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:32030234G>C	ENST00000375244.3	-	20	7069	c.6868C>G	c.(6868-6870)Cca>Gca	p.P2290A	TNXB_ENST00000375247.2_Missense_Mutation_p.P2290A			P22105	TENX_HUMAN	tenascin XB	2353	Fibronectin type-III 15. {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						GTCGAGGCTGGGGCCATTTCT	0.582																																																	0													25	29	28					6																	32030234		1286	2545	3831	SO:0001583	missense	0			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.6868C>G	6.37:g.32030234G>C	ENSP00000364393:p.Pro2290Ala		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.P2290A	ENST00000375244.3	37	c.6868		6	.	.	.	.	.	.	.	.	.	.	G	7.786	0.710522	0.15239	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59772	0.54;0.24	3.57	0.621	0.17643	.	0.360285	0.20644	N	0.088356	T	0.32285	0.0824	M	0.91872	3.25	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.43426	-0.9392	10	0.08599	T	0.76	.	4.2501	0.10691	0.224:0.3762:0.3998:0.0	.	2290	P22105-3	.	A	2290	ENSP00000364393:P2290A;ENSP00000364396:P2290A	ENSP00000364393:P2290A	P	-	1	0	TNXB	32138212	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.310000	0.08135	-0.102000	0.12197	0.491000	0.48974	CCA	TNXB	-	NULL	ENSG00000168477		0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	-	0	35	0	G	NM_019105		32030234	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.002	C	C	32030234	G	C	32030234	3	2	146	1	0	0	0	0	1	0	0	0	16393	1232	43	5	7945	5	TNXB	6	32030234	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	93138	32030234	139084833	98	37140											
PPT2	9374	genome.wustl.edu	37	chr6	32122851	32122854	+	Frame_Shift_Del	DEL	GAGA	GAGA	-																															gtgctcgatctcttcgatggGagagagagcttgcgacccct																										TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	GAGA	GAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:32122851_32122854delGAGA	ENST00000324816.6	+	3	796_799	c.228_231delGAGA	c.(226-231)gggagafs	p.GR76fs	PPT2-EGFL8_ENST00000422437.1_Frame_Shift_Del_p.GR76fs|PRRT1_ENST00000375150.2_5'Flank|PPT2_ENST00000395523.1_Frame_Shift_Del_p.GR76fs|PPT2_ENST00000375143.2_Frame_Shift_Del_p.GR76fs|PPT2_ENST00000445576.2_Frame_Shift_Del_p.GR76fs|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Frame_Shift_Del_p.GR82fs|PPT2-EGFL8_ENST00000453656.2_3'UTR|PRRT1_ENST00000375152.2_5'Flank|PPT2_ENST00000375137.2_Frame_Shift_Del_p.GR76fs			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	76					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						TCTTCGATGGGAGAGAGAGCTTGC	0.608																																																	0																																										SO:0001589	frameshift_variant	0			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.228_231delGAGA	6.37:g.32122855_32122858delGAGA	ENSP00000320528:p.Gly76fs		A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Frame_Shift_Del	DEL	pfam_Palm_thioest,prints_Palm_thioest	p.E84fs	ENST00000324816.6	37	c.246_249	CCDS4742.1	6																																																																																			PPT2	-	pfam_Palm_thioest	ENSG00000221988		0.608	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT2	HGNC	protein_coding	OTTHUMT00000076552.4		0	40	0	GAGA	NM_138717		32122854	1	tier1		no_errors	ENST00000361568	ensembl	human	known	74_37	frame_shift_del	22.73	51	15	DEL	0.455:0.517:0.541:0.539	-	-	32122854	GAGA	-	32122851	7	5	146	1	0	1	0	1	0	0	0	0	12454	1161	41	0	256	0	PPT2	6	32122851	Frame_Shift_Del	DEL	GAGA	TCGA-R6-A6Y0-01B-11D-A33E-09	92617	32122851	138992216	99	37141											
CUL7	9820	genome.wustl.edu	37	chr6	43014654	43014654	+	Silent	SNP	G	G	A	0	0	1	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	aggatgttggtgatgagtttGcggtagaggtgggcatgctt	7	13	18	3	1	0	3	0	2	0	1	0	4	0	4	0	5	2	5	0	5	1	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:43014654G>A	ENST00000265348.3	-	10	2446	c.2361C>T	c.(2359-2361)cgC>cgT	p.R787R	CUL7_ENST00000535468.1_Silent_p.R871R|CUL7_ENST00000478630.1_5'UTR			Q14999	CUL7_HUMAN	cullin 7	787					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)			TGATGAGTTTGCGGTAGAGGT	0.562																																																	0													104	88	94					6																	43014654		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2361C>T	6.37:g.43014654G>A			B4DYZ0|F5H0L1|Q5T654	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R871	ENST00000265348.3	37	c.2613	CCDS4881.1	6																																																																																			CUL7	-	superfamily_Galactose-bd-like	ENSG00000044090		0.562	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	-	0	48	0	G	NM_014780		43014654	-1	tier1	-	no_errors	ENST00000535468	ensembl	human	known	74_37	silent	8.45	65	6	SNP	1.000	A	A	43014654	G	A	43014654	2	1	146	1	0	0	0	0	0	0	0	1	4069	1306	46	3		3	CUL7	6	43014654	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	10891803	43014654	128100413	100	37142											
POLH	5429	genome.wustl.edu	37	chr6	43582040	43582040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccaagtcttctagctgctGaggaccaagtgccctgtgag	9	10	11	11	0	2	2	0	2	2	0	3	3	3	3	3	1	3	2	3	1	3	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:43582040G>A	ENST00000372236.4	+	11	2183	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	POLH_ENST00000535400.1_Missense_Mutation_p.E568K|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	1215					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)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TCTAGCTGCTGAGGACCAAGT	0.502								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																																								0													116	118	117					6																	43582040		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1888G>A	6.37:g.43582040G>A	ENSP00000361310:p.Glu630Lys		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N	p.E630K	ENST00000372236.4	37	c.1888	CCDS4902.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.243191	0.95272	.	.	ENSG00000170734	ENST00000372236;ENST00000535400	T;T	0.63744	0.09;-0.06	5.58	5.58	0.84498	.	0.099613	0.64402	D	0.000002	T	0.73931	0.3650	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.64144	0.922;0.895	T	0.74586	-0.3616	10	0.54805	T	0.06	-15.8155	18.1114	0.89537	0.0:0.0:1.0:0.0	.	568;630	B4DG64;Q9Y253	.;POLH_HUMAN	K	630;568	ENSP00000361310:E630K;ENSP00000442102:E568K	ENSP00000361310:E630K	E	+	1	0	POLH	43690018	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	9.168000	0.94781	2.778000	0.95560	0.655000	0.94253	GAG	POLH	-	pirsf_DNA_pol_eta	ENSG00000170734		0.502	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLH	HGNC	protein_coding	OTTHUMT00000040666.1	-	0	59	0	G	NM_006502		43582040	1	tier1	-	no_errors	ENST00000372236	ensembl	human	known	74_37	missense	5.49	155	9	SNP	1.000	A	A	43582040	G	A	43582040	3	1	146	1	0	0	0	0	1	0	0	0	12241	1291	45	3	1926	3	POLH	6	43582040	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	567386	43582040	127533027	101	37143											
SPATS1	221409	genome.wustl.edu	37	chr6	44329688	44329688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcaacaagaggtctctatCagagaggacggtggacaagt	13	6	14	8	2	2	2	1	0	1	2	3	5	2	4	0	5	1	1	0	5	4	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:44329688C>T	ENST00000288390.2	+	4	880	c.533C>T	c.(532-534)tCa>tTa	p.S178L	SPATS1_ENST00000323108.8_Missense_Mutation_p.S178L|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	178										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)			AGGTCTCTATCAGAGAGGACG	0.483																																																	0													195	186	189					6																	44329688		2203	4300	6503	SO:0001583	missense	0			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.533C>T	6.37:g.44329688C>T	ENSP00000424400:p.Ser178Leu		Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	NULL	p.S178L	ENST00000288390.2	37	c.533	CCDS4911.1	6	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430563	0.62844	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.50548	0.74;0.74	5.71	4.84	0.62591	.	0.986626	0.08242	N	0.975888	T	0.41766	0.1173	M	0.62723	1.935	0.27787	N	0.942953	P	0.52316	0.952	P	0.49276	0.605	T	0.36286	-0.9754	10	0.66056	D	0.02	.	12.1284	0.53930	0.1712:0.8288:0.0:0.0	.	178	Q496A3	SPAS1_HUMAN	L	178	ENSP00000437552:S178L;ENSP00000424400:S178L	ENSP00000424400:S178L	S	+	2	0	SPATS1	44437666	0.217000	0.23597	0.860000	0.33809	0.469000	0.32828	1.124000	0.31320	1.412000	0.46977	0.655000	0.94253	TCA	SPATS1	-	NULL	ENSG00000249481		0.483	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATS1	HGNC	protein_coding	OTTHUMT00000040738.2	-	0	47	0	C	NM_145026		44329688	1	tier1	-	no_errors	ENST00000288390	ensembl	human	known	74_37	missense	23.44	49	15	SNP	0.928	T	T	44329688	C	T	44329688	3	4	146	1	0	0	0	0	1	0	0	0	15065	838	29	3	547	3	SPATS1	6	44329688	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	747648	44329688	126785379	102	37144											
DST	667	genome.wustl.edu	37	chr6	56371273	56371273	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtactgaacggcagcctGcattgcctcctcaagtttgt	7	12	10	12	1	1	1	1	1	0	0	2	1	2	1	3	2	5	4	3	2	3	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:56371273G>A	ENST00000361203.3	-	72	18479	c.18472C>T	c.(18472-18474)Cag>Tag	p.Q6158*	DST_ENST00000244364.6_Nonsense_Mutation_p.Q3855*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q4072*|DST_ENST00000370754.5_Nonsense_Mutation_p.Q6447*|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Nonsense_Mutation_p.Q6269*|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.Q4181*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q5943*			Q03001	DYST_HUMAN	dystonin	6158					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)			ACGGCAGCCTGCATTGCCTCC	0.423																																																	0													67	66	66					6																	56371273		1982	4155	6137	SO:0001587	stop_gained	0			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.18472C>T	6.37:g.56371273G>A	ENSP00000354508:p.Gln6158*		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	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.Q6447*	ENST00000361203.3	37	c.19339		6	.	.	.	.	.	.	.	.	.	.	G	57	30.025291	0.99976	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.57	5.57	0.84162	.	0.000000	0.48286	D	0.000192	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	19.5247	0.95199	0.0:0.0:1.0:0.0	.	.	.	.	X	3855;6447;6269;4181;5943;4072;6158	.	ENSP00000244364:Q3855X	Q	-	1	0	DST	56479232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.825000	0.86693	2.610000	0.88304	0.585000	0.79938	CAG	DST	-	superfamily_ABC1_TM_dom	ENSG00000151914		0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	46	0	G	NM_001723		56371273	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	A	A	56371273	G	A	56371273	4	1	146	1	0	0	0	0	0	1	0	0	4797	1328	46	3	4060	3	DST	6	56371273	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	12041585	56371273	114743794	103	37145											
KIAA1919	91749	genome.wustl.edu	37	chr6	111587146	111587146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catatgcaggccttacacttCtcttttgccttgggtgcctt	5	16	8	12	0	1	0	0	0	1	0	2	0	1	0	3	2	4	1	3	2	2	7			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:111587146C>G	ENST00000368847.4	+	4	734	c.381C>G	c.(379-381)ttC>ttG	p.F127L		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	127					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CCTTACACTTCTCTTTTGCCT	0.483																																																	0													91	94	93					6																	111587146		2203	4300	6503	SO:0001583	missense	0			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.381C>G	6.37:g.111587146C>G	ENSP00000357840:p.Phe127Leu		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.F127L	ENST00000368847.4	37	c.381	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795032	0.90453	.	.	ENSG00000173214	ENST00000368847	T	0.57107	0.42	5.85	5.85	0.93711	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	M	0.80508	2.5	0.58432	D	0.999999	D	0.65815	0.995	D	0.77557	0.99	T	0.63919	-0.6528	10	0.27785	T	0.31	-20.5152	20.168	0.98156	0.0:1.0:0.0:0.0	.	127	Q5TF39	NAGT1_HUMAN	L	127	ENSP00000357840:F127L	ENSP00000357840:F127L	F	+	3	2	KIAA1919	111693839	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.426000	0.52778	2.774000	0.95407	0.643000	0.83706	TTC	KIAA1919	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000173214		0.483	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1	-	0	39	0	C	NM_153369		111587146	1	tier1	-	no_errors	ENST00000368847	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	G	G	111587146	C	G	111587146	3	3	146	1	0	0	0	0	1	0	0	0	8289	912	32	5	395	5	KIAA1919	6	111587146	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	55215873	111587146	59527921	104	37146											
IFNGR1	3459	genome.wustl.edu	37	chr6	137540466	137540466	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaagaggagagccatgCtgctaccgacggtcgctggc	10	5	16	10	3	0	3	0	0	0	3	1	6	0	3	2	4	4	3	2	4	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:137540466C>T	ENST00000367739.4	-	0	120				IFNGR1_ENST00000543628.1_5'Flank|IFNGR1_ENST00000367735.2_5'UTR|IFNGR1_ENST00000478333.1_5'UTR	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1						cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GAGAGCCATGCTGCTACCGAC	0.672																																																	0													35	35	35					6																	137540466		2201	4299	6500	SO:0001623	5_prime_UTR_variant	0				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.-2G>A	6.37:g.137540466C>T			B4DFT7|E1P587|Q53Y96	RNA	SNP	-	NULL	ENST00000367739.4	37	NULL	CCDS5185.1	6																																																																																			IFNGR1	-	-	ENSG00000027697		0.672	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	-	0	50	0	C			137540466	-1	tier1	-	no_errors	ENST00000478333	ensembl	human	known	74_37	rna	6.90	54	4	SNP	0.008	T	T	137540466	C	T	137540466	1	4	146	0	1	0	0	0	0	0	0	0	7576	812	28	3		3	IFNGR1	6	137540466	5'UTR	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	25953320	137540466	33574601	105	37147											
TXLNB	167838	genome.wustl.edu	37	chr6	139564385	139564385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctcttcttgtaaagcacGgcagaggttctctagcctcc	7	13	8	13	1	4	1	0	0	4	1	7	1	5	1	2	2	2	4	2	2	3	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr6:139564385G>T	ENST00000358430.3	-	10	1565	c.1333C>A	c.(1333-1335)Cgt>Agt	p.R445S	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	445						cytoplasm (GO:0005737)		p.R445S(1)|p.R445C(1)		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)		TGTAAAGCACGGCAGAGGTTC	0.433																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)											67	66	66					6																	139564385		2203	4300	6503	SO:0001583	missense	0				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.1333C>A	6.37:g.139564385G>T	ENSP00000351206:p.Arg445Ser		Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	pfam_Taxilin_fam	p.R445S	ENST00000358430.3	37	c.1333	CCDS34545.1	6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076969	0.76415	.	.	ENSG00000164440	ENST00000358430	T	0.39229	1.09	6.06	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.89715	3.055	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.71241	-0.4651	9	.	.	.	-13.3987	15.9512	0.79840	0.0:0.0:0.7919:0.2081	.	445	Q8N3L3	TXLNB_HUMAN	S	445	ENSP00000351206:R445S	.	R	-	1	0	TXLNB	139606078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.625000	0.46452	2.882000	0.98803	0.655000	0.94253	CGT	TXLNB	-	pfam_Taxilin_fam	ENSG00000164440		0.433	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	HGNC	protein_coding	OTTHUMT00000042458.1		0	17	0	G	NM_153235		139564385	-1			no_errors	ENST00000358430	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	139564385	G	T	139564385	3	4	146	1	0	0	0	0	1	0	0	0	16837	1116	39	2	725	2	TXLNB	6	139564385	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	2023919	139564385	31550682	106	37148											
C7orf27	221927	genome.wustl.edu	37	chr7	2577959	2577959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctgcccctggcctccCgcaggctgctgtaggaagca	5	7	15	14	1	0	0	0	0	0	0	1	1	1	1	4	5	3	6	4	5	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:2577959C>A	ENST00000340611.4	-	14	2466	c.2210G>T	c.(2209-2211)cGg>cTg	p.R737L	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	737			R -> W (in dbSNP:rs60152725).		response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.R737L(1)		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						CCTGGCCTCCCGCAGGCTGCT	0.662																																																	1	Substitution - Missense(1)	lung(1)											36	42	40					7																	2577959		2203	4298	6501	SO:0001583	missense	0			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.2210G>T	7.37:g.2577959C>A	ENSP00000339637:p.Arg737Leu		A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R737L	ENST00000340611.4	37	c.2210	CCDS5334.1	7	.	.	.	.	.	.	.	.	.	.	C	4.653	0.121406	0.08881	.	.	ENSG00000106009	ENST00000340611	T	0.30182	1.54	4.97	-0.527	0.11909	.	2.005690	0.02083	N	0.052541	T	0.25005	0.0607	L	0.44542	1.39	0.09310	N	1	B	0.27013	0.166	B	0.20577	0.03	T	0.11446	-1.0587	10	0.32370	T	0.25	-3.9329	5.1089	0.14798	0.0:0.2696:0.1785:0.5519	.	737	Q6PJG6	BRAT1_HUMAN	L	737	ENSP00000339637:R737L	ENSP00000339637:R737L	R	-	2	0	BRAT1	2544485	0.001000	0.12720	0.006000	0.13384	0.030000	0.12068	0.218000	0.17622	-0.103000	0.12175	0.561000	0.74099	CGG	BRAT1	-	NULL	ENSG00000106009		0.662	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAT1	HGNC	protein_coding	OTTHUMT00000239305.2		0	46	0	C	NM_152743		2577959	-1			no_errors	ENST00000340611	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.007	A	A	2577959	C	A	2577959	3	1	146	1	0	0	0	0	1	0	0	0	2389	652	23	2	259	2	C7orf27	7	2577959	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09		2577959	156560704	107	37149											
MEOX2	4223	genome.wustl.edu	37	chr7	15725824	15725824	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtggtggtggtggtggtgGtgccccctgtgatgctggct	1	13	20	7	0	0	1	0	1	0	0	0	1	0	1	2	8	2	2	2	8	0	0	rs372066707|rs544898693	byFrequency	TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:15725824G>C	ENST00000262041.5	-	1	613	c.204C>G	c.(202-204)caC>caG	p.H68Q	AC005550.4_ENST00000442176.1_lincRNA|AC005550.5_ENST00000438923.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	68	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)			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)		ggtggtggtggtgCCCCCTGT	0.577																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												0													31	31	31					7																	15725824		2203	4300	6503	SO:0001583	missense	0				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.204C>G	7.37:g.15725824G>C	ENSP00000262041:p.His68Gln		B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.H68Q	ENST00000262041.5	37	c.204	CCDS34605.1	7	.	.	.	.	.	.	.	.	.	.	G	5.969	0.362769	0.11296	.	.	ENSG00000106511	ENST00000262041	D	0.90261	-2.64	3.2	1.28	0.21552	.	0.072188	0.53938	D	0.000044	T	0.81545	0.4845	L	0.36672	1.1	0.40985	D	0.984803	B	0.21452	0.056	B	0.15052	0.012	T	0.70153	-0.4950	10	0.28530	T	0.3	-17.1018	5.0424	0.14465	0.2928:0.0:0.7072:0.0	.	68	P50222	MEOX2_HUMAN	Q	68	ENSP00000262041:H68Q	ENSP00000262041:H68Q	H	-	3	2	MEOX2	15692349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.151000	0.42263	0.526000	0.28541	0.572000	0.79292	CAC	MEOX2	-	NULL	ENSG00000106511		0.577	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2		0	40	0	G	NM_005924		15725824	-1			no_errors	ENST00000262041	ensembl	human	known	74_37	missense	7.46	62	5	SNP	0.991	C	C	15725824	G	C	15725824	3	2	146	1	0	0	0	0	1	0	0	0	9512	1252	44	5	722	5	MEOX2	7	15725824	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	13147865	15725824	143412839	108	37150											
HOXA1	3198	genome.wustl.edu	37	chr7	27135319	27135319	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccggctgggggtggcgatgGtggtggtggtggtggtggtg	1	10	26	4	2	0	0	0	0	0	0	0	1	0	0	1	11	0	1	1	11	0	0	rs2074398		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:27135319G>A	ENST00000343060.4	-	1	274	c.213C>T	c.(211-213)caC>caT	p.H71H	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Silent_p.H71H|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	71	Poly-His.				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						ggtggcgatggtggtggtggt	0.642											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													37	40	39					7																	27135319		2203	4300	6503	SO:0001819	synonymous_variant	0				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.213C>T	7.37:g.27135319G>A		792	A4D184|B2R8U7|O43363	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.H71	ENST00000343060.4	37	c.213	CCDS5401.1	7																																																																																			HOXA1	-	NULL	ENSG00000105991		0.642	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA1	HGNC	protein_coding	OTTHUMT00000358454.1	-	0	43	0	G			27135319	-1	tier1	rs2074398	no_errors	ENST00000343060	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.999	A	A	27135319	G	A	27135319	2	1	146	1	0	0	0	0	0	0	0	1	7315	1252	44	3		3	HOXA1	7	27135319	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	11409495	27135319	132003344	109	37151											
TBX20	57057	genome.wustl.edu	37	chr7	35289630	35289630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcccaaagctccttggtctCcaggctgcaggcaattttgg	7	11	11	12	0	1	0	0	0	1	0	4	0	3	0	3	4	2	4	3	4	2	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:35289630C>G	ENST00000408931.3	-	2	839	c.313G>C	c.(313-315)Gag>Cag	p.E105Q		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	105					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TCCTTGGTCTCCAGGCTGCAG	0.592																																																	0													68	60	63					7																	35289630		2203	4300	6503	SO:0001583	missense	0			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.313G>C	7.37:g.35289630C>G	ENSP00000386170:p.Glu105Gln		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.E105Q	ENST00000408931.3	37	c.313	CCDS43568.1	7	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745625	0.49151	.	.	ENSG00000164532	ENST00000408931	D	0.88431	-2.38	5.59	4.71	0.59529	p53-like transcription factor, DNA-binding (1);	0.045657	0.85682	D	0.000000	D	0.93106	0.7805	M	0.66560	2.04	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.92566	0.6062	10	0.41790	T	0.15	.	14.5037	0.67739	0.0:0.9297:0.0:0.0703	.	105	Q9UMR3	TBX20_HUMAN	Q	105	ENSP00000386170:E105Q	ENSP00000386170:E105Q	E	-	1	0	TBX20	35256155	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.818000	0.86416	1.363000	0.46019	-0.140000	0.14226	GAG	TBX20	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000164532		0.592	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	-	0	34	0	C	NM_020417		35289630	-1	tier1	-	no_errors	ENST00000408931	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	G	G	35289630	C	G	35289630	3	3	146	1	0	0	0	0	1	0	0	0	15703	864	30	5	1059	5	TBX20	7	35289630	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	8154311	35289630	123849033	110	37152											
ZNF117	51351	genome.wustl.edu	37	chr7	64439685	64439685	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgaaattttatggaaaacTtctacatatttattacattg	14	19	4	4	0	1	1	0	1	1	0	1	2	1	2	0	1	3	0	0	1	8	10			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:64439685T>G	ENST00000282869.6	-	4	1548	c.264A>C	c.(262-264)gaA>gaC	p.E88D		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	88					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TATGGAAAACTTCTACATATT	0.289																																																	0													42	40	41					7																	64439685		1927	4155	6082	SO:0001583	missense	0			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.264A>C	7.37:g.64439685T>G	ENSP00000282869:p.Glu88Asp		Q02313|Q7Z7Q7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E88D	ENST00000282869.6	37	c.264	CCDS43593.1	7	.	.	.	.	.	.	.	.	.	.	.	7.736	0.700280	0.15106	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.36157	1.27	1.11	1.11	0.20524	.	.	.	.	.	T	0.24198	0.0586	L	0.32530	0.975	0.09310	N	1	B	0.20459	0.045	B	0.18263	0.021	T	0.27157	-1.0082	9	0.87932	D	0	.	3.881	0.09079	0.0:0.0:0.3891:0.6109	.	88	Q03924	ZN117_HUMAN	D	88	ENSP00000282869:E88D	ENSP00000282869:E88D	E	-	3	2	ZNF117	64077120	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.389000	0.20751	0.446000	0.26666	0.254000	0.18369	GAA	ZNF117	-	NULL	ENSG00000152926		0.289	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF117	HGNC	protein_coding	OTTHUMT00000344863.3	-	0	26	0	T	NM_024498		64439685	-1	tier1	-	no_errors	ENST00000282869	ensembl	human	known	74_37	missense	15.49	60	11	SNP	0.002	G	G	64439685	T	G	64439685	3	3	146	1	0	0	0	0	1	0	0	0	17765	1606	56	4	1191	4	ZNF117	7	64439685	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	29150055	64439685	94698978	111	37153											
KCTD7	154881	genome.wustl.edu	37	chr7	66104124	66104124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggcccagggtctcaccGtggaccaccagtgcatcggg	6	7	13	15	3	2	0	1	0	2	0	5	1	2	1	4	4	1	1	4	4	0	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:66104124G>T	ENST00000275532.3	+	4	959	c.775G>T	c.(775-777)Gtg>Ttg	p.V259L	KCTD7_ENST00000443322.1_Missense_Mutation_p.V259L	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	259					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GGGTCTCACCGTGGACCACCA	0.572																																																	0													124	89	101					7																	66104124		2203	4300	6503	SO:0001583	missense	0			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.775G>T	7.37:g.66104124G>T	ENSP00000275532:p.Val259Leu		A4D2M4|Q8IVR0	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.V259L	ENST00000275532.3	37	c.775	CCDS5534.1	7	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378824	0.61735	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.67865	-0.28;-0.29	5.47	5.47	0.80525	.	.	.	.	.	T	0.59445	0.2194	L	0.43923	1.385	0.80722	D	1	B	0.33940	0.433	B	0.26517	0.07	T	0.61412	-0.7068	9	0.49607	T	0.09	.	18.3248	0.90250	0.0:0.0:1.0:0.0	.	259	Q96MP8	KCTD7_HUMAN	L	259	ENSP00000275532:V259L;ENSP00000411624:V259L	ENSP00000275532:V259L	V	+	1	0	KCTD7	65741559	1.000000	0.71417	0.954000	0.39281	0.897000	0.52465	7.282000	0.78630	2.573000	0.86826	0.655000	0.94253	GTG	KCTD7	-	NULL	ENSG00000243335		0.572	KCTD7-001	KNOWN	basic|CCDS	protein_coding	KCTD7	HGNC	protein_coding	OTTHUMT00000251733.2		0	24	0	G	NM_153033		66104124	1			no_errors	ENST00000275532	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.998	T	T	66104124	G	T	66104124	3	4	146	1	0	0	0	0	1	0	0	0	8141	1145	40	2	789	2	KCTD7	7	66104124	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1664439	66104124	93034539	112	37154											
RUNDC3B	154661	genome.wustl.edu	37	chr7	87436688	87436688	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccatcttaatattcacagGactgtgctaaagaataatga	16	11	6	8	0	2	2	1	1	1	1	2	3	2	3	1	1	1	1	1	1	6	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:87436688G>T	ENST00000338056.3	+	10	1419	c.1008G>T	c.(1006-1008)ctG>ctT	p.L336L	RUNDC3B_ENST00000394654.3_Splice_Site_p.L319L|RUNDC3B_ENST00000493037.1_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	336										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ATATTCACAGGACTGTGCTAA	0.408																																																	0													134	124	127					7																	87436688		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.1008-1G>T	7.37:g.87436688G>T			B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Silent	SNP	pfam_Run,smart_Run,pfscan_Run	p.L336	ENST00000338056.3	37	c.1008	CCDS5609.1	7																																																																																			RUNDC3B	-	NULL	ENSG00000105784		0.408	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	RUNDC3B	HGNC	protein_coding	OTTHUMT00000253679.1	-	0	48	0	G	NM_138290	Silent	87436688	1	tier1	-	no_errors	ENST00000338056	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T	T	87436688	G	T	87436688	5	4	146	1	0	0	0	0	0	0	1	0	13790	1188	41	3	1046	3	RUNDC3B	7	87436688	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	21332564	87436688	71701975	113	37155											
ADAM22	53616	genome.wustl.edu	37	chr7	87822484	87822484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgggtctattgcctccaGcagaaaatacccttacccaa	13	9	6	13	0	1	1	0	0	1	1	2	1	2	1	4	1	5	1	4	1	7	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:87822484G>A	ENST00000265727.7	+	30	2709	c.2630G>A	c.(2629-2631)aGc>aAc	p.S877N	ADAM22_ENST00000315984.7_Missense_Mutation_p.S870N|ADAM22_ENST00000398209.3_Missense_Mutation_p.S870N|ADAM22_ENST00000398204.4_Missense_Mutation_p.S841N			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	877					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)			ATTGCCTCCAGCAGAAAATAC	0.448																																																	0													92	87	89					7																	87822484		1921	4129	6050	SO:0001583	missense	0			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.2630G>A	7.37:g.87822484G>A	ENSP00000265727:p.Ser877Asn		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.S877N	ENST00000265727.7	37	c.2630	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	G	31	5.096074	0.94197	.	.	ENSG00000008277	ENST00000398204;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000426930	T;T;T;T;T	0.61510	4.31;3.89;3.42;3.7;0.1	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66479	0.2793	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.996;0.993;0.997	T	0.66654	-0.5869	10	0.45353	T	0.12	.	19.8611	0.96785	0.0:0.0:1.0:0.0	.	841;877;870	Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;ADA22_HUMAN;.	N	841;877;870;870;301	ENSP00000381262:S841N;ENSP00000265727:S877N;ENSP00000315900:S870N;ENSP00000381267:S870N;ENSP00000396233:S301N	ENSP00000265727:S877N	S	+	2	0	ADAM22	87660420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.711000	0.92665	0.650000	0.86243	AGC	ADAM22	-	NULL	ENSG00000008277		0.448	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	-	0	44	0	G	NM_021723		87822484	1	tier1	-	no_errors	ENST00000265727	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	87822484	G	A	87822484	3	1	146	1	0	0	0	0	1	0	0	0	244	971	34	3	2843	3	ADAM22	7	87822484	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	385796	87822484	71316179	114	37156											
PEG10	23089	genome.wustl.edu	37	chr7	94293534	94293534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctctcccacctcgaGgtcgccaagtcgctgtctgc	6	8	12	15	3	2	0	0	0	2	0	6	3	2	1	3	2	2	2	3	2	1	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:94293534G>C	ENST00000482108.1	+	2	1145	c.666G>C	c.(664-666)gaG>gaC	p.E222D	PEG10_ENST00000488574.1_Missense_Mutation_p.E222D	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	222	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCCACCTCGAGGTCGCCAAGT	0.617																																																	0																																										SO:0001583	missense	0			AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.666G>C	7.37:g.94293534G>C	ENSP00000417587:p.Glu222Asp		Q96A68|Q9UPV1	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom,superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.E222D	ENST00000482108.1	37	c.666	CCDS55126.1	7	.	.	.	.	.	.	.	.	.	.	G	4.861	0.160071	0.09287	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.10477	2.87;2.87	4.05	-4.63	0.03359	.	.	.	.	.	T	0.03871	0.0109	N	0.10809	0.05	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.17098	0.017;0.017	T	0.44667	-0.9313	9	0.02654	T	1	.	8.46	0.32923	0.2058:0.0:0.6688:0.1254	.	298;222	B4DSP0;Q86TG7	.;PEG10_HUMAN	D	222	ENSP00000417587:E222D;ENSP00000418944:E222D	ENSP00000417587:E222D	E	+	3	2	PEG10	94131470	0.299000	0.24426	0.003000	0.11579	0.657000	0.38888	-0.161000	0.10026	-0.941000	0.03700	0.555000	0.69702	GAG	PEG10	-	NULL	ENSG00000242265		0.617	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG10	HGNC	protein_coding	OTTHUMT00000340751.1	-	0	26	0	G	NM_015068		94293534	1	tier1	-	no_errors	ENST00000482108	ensembl	human	known	74_37	missense	18.60	35	8	SNP	0.028	C	C	94293534	G	C	94293534	3	2	146	1	0	0	0	0	1	0	0	0	11758	1000	35	5	900	5	PEG10	7	94293534	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	6471050	94293534	64845129	115	37157											
PPP1R9A	55607	genome.wustl.edu	37	chr7	94919602	94919602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaactacagccgagggtgCtggtgagcagtaacacatac	12	7	12	10	1	1	1	1	1	0	0	1	2	1	1	1	2	7	3	1	2	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:94919602C>T	ENST00000433881.1	+	16	3816	c.3284C>T	c.(3283-3285)gCt>gTt	p.A1095V	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.A1371V|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.A1250V|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.A1293V|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.A1250V|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.A1095V			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1095					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCCGAGGGTGCTGGTGAGCAG	0.468										HNSCC(28;0.073)																																							0													80	74	76					7																	94919602		2203	4300	6503	SO:0001583	missense	0			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.3284C>T	7.37:g.94919602C>T	ENSP00000398870:p.Ala1095Val		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.A1293V	ENST00000433881.1	37	c.3878	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361929	0.41801	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.17370	2.34;2.43;2.33;2.43;2.28;2.33	4.87	0.791	0.18619	.	1.119980	0.06732	N	0.776792	T	0.09818	0.0241	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.19445	0.008;0.034;0.034;0.036;0.02;0.008	B;B;B;B;B;B	0.19148	0.006;0.015;0.024;0.016;0.006;0.006	T	0.37103	-0.9720	10	0.72032	D	0.01	.	3.125	0.06405	0.1468:0.5668:0.1336:0.1528	.	1087;1293;1371;1311;1250;1095	B7ZLX4;F8W7J9;E9PDX1;D6W5R0;E9PCK6;Q9ULJ8	.;.;.;.;.;NEB1_HUMAN	V	1371;1095;1250;1095;1293;1250	ENSP00000405514:A1371V;ENSP00000344524:A1095V;ENSP00000411342:A1250V;ENSP00000398870:A1095V;ENSP00000289495:A1293V;ENSP00000402893:A1250V	ENSP00000289495:A1293V	A	+	2	0	PPP1R9A	94757538	0.008000	0.16893	0.000000	0.03702	0.000000	0.00434	0.894000	0.28350	0.040000	0.15660	-0.140000	0.14226	GCT	PPP1R9A	-	NULL	ENSG00000158528		0.468	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1		0	25	0	C	NM_001166160		94919602	1			no_errors	ENST00000289495	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.001	T	T	94919602	C	T	94919602	3	4	146	1	0	0	0	0	1	0	0	0	12420	797	28	3	4214	3	PPP1R9A	7	94919602	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	626068	94919602	64219061	116	37158											
LRCH4	4034	genome.wustl.edu	37	chr7	100174539	100174539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcccacctggtccagctatgGgaaggggctcttgggaggca	7	8	15	11	0	1	0	0	0	1	0	3	2	3	2	3	6	1	3	3	6	2	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:100174539G>T	ENST00000310300.6	-	13	1506	c.1454C>A	c.(1453-1455)cCc>cAc	p.P485H	LRCH4_ENST00000497245.1_Missense_Mutation_p.P33H	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	485					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)					TCCAGCTATGGGAAGGGGCTC	0.667																																																	0													15	14	14					7																	100174539		2183	4258	6441	SO:0001583	missense	0			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.1454C>A	7.37:g.100174539G>T	ENSP00000309689:p.Pro485His		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.P485H	ENST00000310300.6	37	c.1454	CCDS34706.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.063466|2.063466	0.36373|0.36373	.|.	.|.	ENSG00000077454|ENSG00000077454	ENST00000310300;ENST00000497245|ENST00000485554	T;T|.	0.49720|.	1.31;0.77|.	4.07|4.07	2.09|2.09	0.27110|0.27110	.|.	0.892416|0.892416	0.09812|0.09812	N|N	0.752663|0.752663	T|T	0.23171|0.23171	0.0560|0.0560	N|N	0.19112|0.19112	0.55|0.55	0.22639|0.22639	N|N	0.998901|0.998901	P|.	0.45283|.	0.855|.	B|.	0.38500|.	0.275|.	T|T	0.23762|0.23762	-1.0179|-1.0179	10|7	0.46703|0.36615	T|T	0.11|0.2	-2.6206|-2.6206	4.3332|4.3332	0.11073|0.11073	0.1173:0.0:0.6583:0.2244|0.1173:0.0:0.6583:0.2244	.|.	485|.	O75427|.	LRCH4_HUMAN|.	H|T	485;33|10	ENSP00000309689:P485H;ENSP00000419870:P33H|.	ENSP00000309689:P485H|ENSP00000419674:P10T	P|P	-|-	2|1	0|0	LRCH4|LRCH4	100012475|100012475	0.279000|0.279000	0.24239|0.24239	0.488000|0.488000	0.27440|0.27440	0.938000|0.938000	0.57974|0.57974	1.447000|1.447000	0.35101|0.35101	1.079000|1.079000	0.41038|0.41038	0.549000|0.549000	0.68633|0.68633	CCC|CCA	LRCH4	-	NULL	ENSG00000077454		0.667	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRCH4	HGNC	protein_coding	OTTHUMT00000356110.1	-	0	41	0	G	NM_002319		100174539	-1	tier1	-	no_errors	ENST00000310300	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.418	T	T	100174539	G	T	100174539	3	4	146	1	0	0	0	0	1	0	0	0	8970	1232	43	3	621	3	LRCH4	7	100174539	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	5254937	100174539	58964124	117	37159											
RELN	5649	genome.wustl.edu	37	chr7	103338500	103338500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctttggcgtcctcaggaaGgtagaggatatggatgattg	9	11	14	7	1	1	2	1	1	0	1	2	5	2	5	2	5	0	1	2	5	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:103338500G>T	ENST00000428762.1	-	10	1102	c.943C>A	c.(943-945)Ctt>Att	p.L315I	RELN_ENST00000424685.2_Missense_Mutation_p.L315I|RELN_ENST00000343529.5_Missense_Mutation_p.L315I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	315					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)		TCCTCAGGAAGGTAGAGGATA	0.448																																					NSCLC(146;835 1944 15585 22231 52158)												0													195	185	189					7																	103338500		2203	4300	6503	SO:0001583	missense	0				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.943C>A	7.37:g.103338500G>T	ENSP00000392423:p.Leu315Ile		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.L315I	ENST00000428762.1	37	c.943	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	g	26.9	4.782887	0.90282	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.38722	1.12;1.12;1.12	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.978	T	0.60444	-0.7262	10	0.44086	T	0.13	.	20.6485	0.99592	0.0:0.0:1.0:0.0	.	315;315	P78509-2;P78509	.;RELN_HUMAN	I	315	ENSP00000392423:L315I;ENSP00000345694:L315I;ENSP00000388446:L315I	ENSP00000345694:L315I	L	-	1	0	RELN	103125736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.218000	0.77991	2.891000	0.99171	0.651000	0.88453	CTT	RELN	-	NULL	ENSG00000189056		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	38	0	G	NM_005045		103338500	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	T	T	103338500	G	T	103338500	3	4	146	1	0	0	0	0	1	0	0	0	13265	1000	35	3	9663	3	RELN	7	103338500	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	3163961	103338500	55800163	118	37160											
ZNF277	11179	genome.wustl.edu	37	chr7	111982780	111982780	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattttgaaccagttgctacTataagagtacttgaaaacct	14	14	6	7	0	0	3	0	2	0	1	0	3	0	3	2	0	5	3	2	0	8	9			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:111982780T>A	ENST00000361822.3	+	12	1478	c.1349T>A	c.(1348-1350)cTa>cAa	p.L450Q	AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	450					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CAGTTGCTACTATAAGAGTAC	0.328																																																	0													56	55	55					7																	111982780		2203	4300	6503	SO:0001583	missense	0			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.1349T>A	7.37:g.111982780T>A	ENSP00000354501:p.Leu450Gln		Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L450Q	ENST00000361822.3	37	c.1349	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187579	0.57909	.	.	ENSG00000198839	ENST00000361822;ENST00000421864	T	0.36157	1.27	5.73	-0.103	0.13609	.	0.687728	0.15025	N	0.284780	T	0.14356	0.0347	N	0.08118	0	0.09310	N	0.999994	B	0.10296	0.003	B	0.08055	0.003	T	0.16928	-1.0386	10	0.87932	D	0	2.0E-4	0.6663	0.00851	0.228:0.1597:0.3196:0.2927	.	450	Q9NRM2	ZN277_HUMAN	Q	450;118	ENSP00000354501:L450Q	ENSP00000354501:L450Q	L	+	2	0	ZNF277	111770016	0.000000	0.05858	0.130000	0.21974	0.952000	0.60782	-0.094000	0.11094	0.178000	0.19917	0.533000	0.62120	CTA	ZNF277	-	NULL	ENSG00000198839		0.328	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2	-	0	35	0	T	NM_021994		111982780	1	tier1	-	no_errors	ENST00000361822	ensembl	human	known	74_37	missense	20.00	44	11	SNP	0.003	A	A	111982780	T	A	111982780	3	1	146	1	0	0	0	0	1	0	0	0	17860	1522	53	5	1395	5	ZNF277	7	111982780	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	8644280	111982780	47155883	119	37161											
HYAL4	23553	genome.wustl.edu	37	chr7	123508663	123508663	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccccattaatggaggtctCccacagaacataagtttaca	13	10	7	11	0	1	1	0	0	1	1	3	2	2	2	3	2	2	1	3	2	4	4	rs373941618		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:123508663C>G	ENST00000223026.4	+	3	974	c.336C>G	c.(334-336)ctC>ctG	p.L112L	HYAL4_ENST00000476325.1_Silent_p.L112L	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	112					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATGGAGGTCTCCCACAGAACA	0.408																																																	0													67	73	71					7																	123508663		2203	4300	6503	SO:0001819	synonymous_variant	0			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.336C>G	7.37:g.123508663C>G			D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.L112	ENST00000223026.4	37	c.336	CCDS5789.1	7																																																																																			HYAL4	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	ENSG00000106302		0.408	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL4	HGNC	protein_coding	OTTHUMT00000348545.1	-	0	78	0	C	NM_012269		123508663	1	tier1	-	no_errors	ENST00000223026	ensembl	human	known	74_37	silent	17.05	73	15	SNP	0.183	G	G	123508663	C	G	123508663	2	3	146	1	0	0	0	0	0	0	0	1	7493	842	30	5		5	HYAL4	7	123508663	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	11525883	123508663	35630000	120	37162											
MLL3	58508	genome.wustl.edu	37	chr7	151859283	151859283	+	Frame_Shift_Del	DEL	T	T	-																															gaacaaatactgccctcaggTttttgattcaaaagagaaga																										TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:151859283delT	ENST00000262189.6	-	43	11597	c.11379delA	c.(11377-11379)aaafs	p.K3793fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.K3793fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3793					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)										TGCCCTCAGGTTTTTGATTCA	0.403																																																	0													44	46	46					7																	151859283		2203	4300	6503	SO:0001589	frameshift_variant	0			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.11379delA	7.37:g.151859283delT	ENSP00000262189:p.Lys3793fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K3793fs	ENST00000262189.6	37	c.11379	CCDS5931.1	7																																																																																			KMT2C	-	NULL	ENSG00000055609		0.403	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3		0	33	0	T			151859283	-1	tier1		no_errors	ENST00000355193	ensembl	human	known	74_37	frame_shift_del	7.89	35	3	DEL	1.000	-	-	151859283	T	-	151859283	7	5	146	1	0	1	0	1	0	0	0	0	9660	1722	60	0	3424	0	MLL3	7	151859283	Frame_Shift_Del	DEL	T	TCGA-R6-A6Y0-01B-11D-A33E-09	28350620	151859283	7279380	121	37163											
HTR5A	3361	genome.wustl.edu	37	chr7	154863168	154863168	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggagagacgtactctGagggcagcgaggagtgccag	9	5	19	8	2	1	2	0	1	1	1	1	6	1	4	1	4	3	3	1	4	1	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:154863168G>T	ENST00000287907.2	+	1	1135	c.559G>T	c.(559-561)Gag>Tag	p.E187*	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	187					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GACGTACTCTGAGGGCAGCGA	0.622																																																	0													80	64	69					7																	154863168		2203	4300	6503	SO:0001587	stop_gained	0				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.559G>T	7.37:g.154863168G>T	ENSP00000287907:p.Glu187*		Q2M2D2	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt	p.E187*	ENST00000287907.2	37	c.559	CCDS5936.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.750137	0.98939	.	.	ENSG00000157219	ENST00000287907	.	.	.	4.77	4.77	0.60923	.	0.051956	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	18.0029	0.89202	0.0:0.0:1.0:0.0	.	.	.	.	X	187	.	ENSP00000287907:E187X	E	+	1	0	HTR5A	154494101	1.000000	0.71417	0.265000	0.24526	0.423000	0.31445	4.948000	0.63590	2.489000	0.83994	0.655000	0.94253	GAG	HTR5A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT5A_rcpt	ENSG00000157219		0.622	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR5A	HGNC	protein_coding	OTTHUMT00000322240.1	-	0	51	0	G	NM_024012		154863168	1	tier1	-	no_errors	ENST00000287907	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	0.997	T	T	154863168	G	T	154863168	4	4	146	1	0	0	0	0	0	1	0	0	7477	1291	45	3	561	3	HTR5A	7	154863168	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	3003885	154863168	4275495	122	37164											
CNPY1	285888	genome.wustl.edu	37	chr7	155301589	155301589	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaggaagagagcttacCgcaaatttcaaaggtctgta	14	9	10	8	1	2	1	1	0	1	1	2	3	2	2	1	2	3	4	1	2	6	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr7:155301589C>A	ENST00000321736.5	-	2	306	c.144G>T	c.(142-144)gcG>gcT	p.A48A	CNPY1_ENST00000406197.1_Splice_Site_p.A48A|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	48										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GAGAGCTTACCGCAAATTTCA	0.348																																																	0													65	62	63					7																	155301589		1808	4072	5880	SO:0001630	splice_region_variant	0				CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"canopy 1 homolog (zebrafish)"			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.144+1G>T	7.37:g.155301589C>A			A6NGX3	Silent	SNP	pfam_DUF3456	p.A48	ENST00000321736.5	37	c.144	CCDS43684.1	7																																																																																			CNPY1	-	pfam_DUF3456	ENSG00000146910		0.348	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CNPY1	HGNC	protein_coding	OTTHUMT00000322335.1	-	0	36	0	C	XM_001129537	Silent	155301589	-1	tier1	-	no_errors	ENST00000321736	ensembl	human	putative	74_37	silent	7.55	49	4	SNP	1.000	A	A	155301589	C	A	155301589	5	1	146	1	0	0	0	0	0	0	1	0	3634	666	23	2	146	2	CNPY1	7	155301589	Splice_Site	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	438421	155301589	3837074	123	37165											
BLK	640	genome.wustl.edu	37	chr8	11407731	11407731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgctccaatcaacaaGgccggctcctttcttatcag	8	13	6	14	1	4	0	2	0	2	0	6	0	6	0	3	2	2	2	3	2	4	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:11407731G>C	ENST00000259089.4	+	6	1024	c.432G>C	c.(430-432)aaG>aaC	p.K144N	RP11-148O21.6_ENST00000602626.1_lincRNA|BLK_ENST00000529894.1_Missense_Mutation_p.K73N	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	144	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAATCAACAAGGCCGGCTCCT	0.557																																																	0													97	95	96					8																	11407731		2203	4300	6503	SO:0001583	missense	0			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.432G>C	8.37:g.11407731G>C	ENSP00000259089:p.Lys144Asn		Q16291|Q96IN1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.K144N	ENST00000259089.4	37	c.432	CCDS5982.1	8	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704390	0.30232	.	.	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894	D;D	0.89485	-2.52;-2.52	5.5	4.62	0.57501	SH2 motif (4);	0.000000	0.45606	D	0.000359	D	0.86130	0.5859	L	0.55213	1.73	0.80722	D	1	B	0.24651	0.108	B	0.31614	0.133	T	0.81922	-0.0711	10	0.36615	T	0.2	.	10.1902	0.43021	0.1694:0.0:0.8306:0.0	.	144	P51451	BLK_HUMAN	N	144;144;73	ENSP00000259089:K144N;ENSP00000433663:K73N	ENSP00000259089:K144N	K	+	3	2	BLK	11445140	0.835000	0.29415	0.938000	0.37757	0.646000	0.38490	1.416000	0.34759	1.299000	0.44798	0.650000	0.86243	AAG	BLK	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000136573		0.557	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLK	HGNC	protein_coding	OTTHUMT00000207460.1	-	0	34	0	G			11407731	1	tier1	-	no_errors	ENST00000259089	ensembl	human	known	74_37	missense	26.32	28	10	SNP	0.946	C	C	11407731	G	C	11407731	3	2	146	1	0	0	0	0	1	0	0	0	1446	991	35	5	450	5	BLK	8	11407731	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09		11407731	134956291	124	37166											
DLC1	10395	genome.wustl.edu	37	chr8	13162754	13162754	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaaatagattggcgagaaAacagaaccaaaatgtcaact	20	7	7	7	1	1	3	1	0	0	3	1	4	1	3	1	1	3	0	1	1	9	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:13162754A>G	ENST00000276297.4	-	5	1758				DLC1_ENST00000511869.1_Missense_Mutation_p.F458L|DLC1_ENST00000316609.5_Intron	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein						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						TTGGCGAGAAAACAGAACCAA	0.279																																																	0													74	78	77					8																	13162754		2202	4297	6499	SO:0001627	intron_variant	0			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.1348+23T>C	8.37:g.13162754A>G			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	NULL	p.F458L	ENST00000276297.4	37	c.1372	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307034	0.23821	.	.	ENSG00000164741	ENST00000511869	T	0.10960	2.82	5.46	2.95	0.34219	.	.	.	.	.	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.43669	-0.9377	9	0.06099	T	0.92	.	6.0888	0.19983	0.7749:0.0:0.0815:0.1436	.	458	E9PF76	.	L	458	ENSP00000425878:F458L	ENSP00000425878:F458L	F	-	1	0	DLC1	13207125	0.973000	0.33851	0.350000	0.25708	0.003000	0.03518	2.592000	0.46171	1.039000	0.40074	-0.270000	0.10280	TTT	DLC1	-	NULL	ENSG00000164741		0.279	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0	89	0	A	NM_182643, NM_006094		13162754	-1	tier1	-	no_errors	ENST00000511869	ensembl	human	novel	74_37	missense	15.57	141	26	SNP	0.314	G	G	13162754	A	G	13162754	1	3	146	0	1	0	0	0	0	0	0	0	4564	14	1	4		4	DLC1	8	13162754	Intron	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	1755023	13162754	133201268	125	37167											
SH2D4A	63898	genome.wustl.edu	37	chr8	19214753	19214753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaatattcaacaaatgttgGcagattcaatcaatcgtatg	16	12	7	6	1	3	1	3	0	0	1	4	2	3	1	0	1	1	3	0	1	7	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:19214753G>T	ENST00000265807.3	+	5	964	c.553G>T	c.(553-555)Gca>Tca	p.A185S	SH2D4A_ENST00000519207.1_Missense_Mutation_p.A185S|SH2D4A_ENST00000518040.1_Missense_Mutation_p.A140S	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	185					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		ACAAATGTTGGCAGATTCAAT	0.393																																																	0													129	128	128					8																	19214753		2203	4300	6503	SO:0001583	missense	0			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.553G>T	8.37:g.19214753G>T	ENSP00000265807:p.Ala185Ser		B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.A185S	ENST00000265807.3	37	c.553	CCDS6009.1	8	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920595	0.73213	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;D;T	0.94576	2.74;-3.46;2.74	5.46	5.46	0.80206	.	0.100118	0.42548	D	0.000691	D	0.91240	0.7239	N	0.08118	0	0.28801	N	0.898784	D;P	0.56521	0.976;0.939	P;B	0.54346	0.749;0.433	D	0.86515	0.1812	10	0.34782	T	0.22	.	15.1697	0.72862	0.0:0.0:1.0:0.0	.	140;185	B4DDR1;Q9H788	.;SH24A_HUMAN	S	185;140;185	ENSP00000265807:A185S;ENSP00000429482:A140S;ENSP00000428684:A185S	ENSP00000265807:A185S	A	+	1	0	SH2D4A	19259033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.497000	0.53295	2.713000	0.92767	0.655000	0.94253	GCA	SH2D4A	-	NULL	ENSG00000104611		0.393	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D4A	HGNC	protein_coding	OTTHUMT00000214094.1	-	0	36	0	G	NM_022071		19214753	1	tier1	-	no_errors	ENST00000265807	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	19214753	G	T	19214753	3	4	146	1	0	0	0	0	1	0	0	0	14280	1203	42	3	617	3	SH2D4A	8	19214753	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	6051999	19214753	127149269	126	37168											
DOK2	9046	genome.wustl.edu	37	chr8	21767244	21767244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggcagtgagtcatgcggccGagagtaggggctatcaggcc	8	6	17	10	3	2	2	2	1	0	1	2	3	2	2	2	5	1	3	2	5	2	2	rs368473444		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:21767244G>C	ENST00000276420.4	-	5	1075	c.817C>G	c.(817-819)Cgg>Ggg	p.R273G	DOK2_ENST00000544659.1_Missense_Mutation_p.R119G	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	273	Pro-rich.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCATGCGGCCGAGAGTAGGGG	0.682																																																	0													49	56	53					8																	21767244		2203	4299	6502	SO:0001583	missense	0			AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.817C>G	8.37:g.21767244G>C	ENSP00000276420:p.Arg273Gly		Q8N5A4	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.R273G	ENST00000276420.4	37	c.817	CCDS6016.1	8	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131678	0.37630	.	.	ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197	T;T;T	0.45668	1.89;1.48;0.89	5.42	3.62	0.41486	.	0.631001	0.14032	N	0.346038	T	0.39332	0.1074	M	0.75447	2.3	0.31778	N	0.631265	P;P	0.39551	0.678;0.678	B;B	0.37346	0.247;0.247	T	0.47711	-0.9096	10	0.35671	T	0.21	-6.668	5.0901	0.14704	0.1714:0.0:0.6608:0.1678	.	273;273	O60496;A8K7W1	DOK2_HUMAN;.	G	273;119;119	ENSP00000276420:R273G;ENSP00000443602:R119G;ENSP00000430729:R119G	ENSP00000276420:R273G	R	-	1	2	DOK2	21823190	0.409000	0.25368	0.984000	0.44739	0.201000	0.24016	2.160000	0.42348	0.653000	0.30826	-0.169000	0.13324	CGG	DOK2	-	NULL	ENSG00000147443		0.682	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK2	HGNC	protein_coding	OTTHUMT00000253735.3	-	0	44	0	G	NM_003974		21767244	-1	tier1	-	no_errors	ENST00000276420	ensembl	human	known	74_37	missense	19.19	80	19	SNP	0.976	C	C	21767244	G	C	21767244	3	2	146	1	0	0	0	0	1	0	0	0	4711	1057	37	5	425	5	DOK2	8	21767244	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	2552491	21767244	124596778	127	37169											
PPP2R2A	5520	genome.wustl.edu	37	chr8	26220325	26220325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaactattcggctatgtGacatgagggcatctgccctc	10	10	11	10	1	1	2	0	2	1	0	3	3	1	3	1	3	2	2	1	3	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:26220325G>A	ENST00000380737.3	+	7	1092	c.763G>A	c.(763-765)Gac>Aac	p.D255N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.D265N	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	255					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)		TCGGCTATGTGACATGAGGGC	0.373																																																	0													84	77	79					8																	26220325		2203	4300	6503	SO:0001583	missense	0			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.763G>A	8.37:g.26220325G>A	ENSP00000370113:p.Asp255Asn		B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.D255N	ENST00000380737.3	37	c.763	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.552278	0.96501	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.76839	0.96;-1.05;0.96	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	D	0.91126	0.7206	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.995	D;D;D	0.87578	0.991;0.998;0.966	D	0.92472	0.5986	10	0.87932	D	0	-10.5039	19.7612	0.96319	0.0:0.0:1.0:0.0	.	265;255;256	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	N	255;34;265	ENSP00000370113:D255N;ENSP00000430320:D34N;ENSP00000325074:D265N	ENSP00000325074:D265N	D	+	1	0	PPP2R2A	26276242	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.415000	0.97375	2.670000	0.90874	0.655000	0.94253	GAC	PPP2R2A	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	ENSG00000221914		0.373	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	HGNC	protein_coding	OTTHUMT00000375954.2	-	0	40	0	G	NM_002717		26220325	1	tier1	-	no_errors	ENST00000380737	ensembl	human	known	74_37	missense	18.84	56	13	SNP	1.000	A	A	26220325	G	A	26220325	3	1	146	1	0	0	0	0	1	0	0	0	12426	1290	45	3	830	3	PPP2R2A	8	26220325	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	4453081	26220325	120143697	128	37170											
NRG1	3084	genome.wustl.edu	37	chr8	32607085	32607085	+	Intron	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgcattggcagagcatcTtgggattgaatttatgggta	9	15	12	5	0	2	2	0	1	2	1	2	3	2	3	0	3	2	4	0	3	3	7			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:32607085T>G	ENST00000405005.3	+	8	700				NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Missense_Mutation_p.L233R|NRG1_ENST00000519301.1_Missense_Mutation_p.L178R|NRG1_ENST00000523681.1_3'UTR|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Missense_Mutation_p.L199R|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000539990.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						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)		GCAGAGCATCTTGGGATTGAA	0.378																																																	0													154	152	153					8																	32607085		2203	4300	6503	SO:0001627	intron_variant	0			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.701-4805T>G	8.37:g.32607085T>G			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	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.L233R	ENST00000405005.3	37	c.698	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	T	21.1	4.105481	0.77096	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000356819;ENST00000287845;ENST00000518084	T;T;T;T;T	0.80480	-1.24;-1.38;-1.09;-1.02;-0.96	5.59	5.59	0.84812	.	.	.	.	.	D	0.86297	0.5899	L	0.43152	1.355	0.80722	D	1	B;B;D;P	0.89917	0.402;0.331;1.0;0.631	B;B;D;B	0.91635	0.153;0.107;0.999;0.316	D	0.87738	0.2583	9	0.87932	D	0	.	15.7861	0.78304	0.0:0.0:0.0:1.0	.	199;233;236;233	F8W9E3;Q7RTW4;Q02297-2;Q02297-6	.;.;.;.	R	195;178;301;233;199;79	ENSP00000430053:L195R;ENSP00000429582:L178R;ENSP00000429067:L301R;ENSP00000349275:L233R;ENSP00000287845:L199R	ENSP00000287845:L199R	L	+	2	0	NRG1	32726627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.101000	0.71479	2.134000	0.65973	0.528000	0.53228	CTT	NRG1	-	NULL	ENSG00000157168		0.378	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	15	0	T			32607085	1	tier1	-	no_errors	ENST00000356819	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	G	G	32607085	T	G	32607085	1	3	146	0	1	0	0	0	0	0	0	0	10686	1609	56	4		4	NRG1	8	32607085	Intron	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	6386760	32607085	113756937	129	37171											
EIF4EBP1	1978	genome.wustl.edu	37	chr8	37914778	37914778	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaagataagcgggcgggcGgtgagtgtcggggcttggcc	7	6	20	8	4	0	3	0	1	0	2	1	3	0	3	1	6	1	1	1	6	2	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:37914778G>A	ENST00000338825.4	+	2	558	c.325G>A	c.(325-327)Ggt>Agt	p.G109S	EIF4EBP1_ENST00000520657.1_3'UTR	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E binding protein 1	109					cellular protein metabolic process (GO:0044267)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translational initiation (GO:0045947)|positive regulation of mitotic cell cycle (GO:0045931)|response to ethanol (GO:0045471)|response to ischemia (GO:0002931)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	translation repressor activity (GO:0030371)			endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				GCGGGCGGGCGGTGAGTGTCG	0.622																																					Melanoma(144;549 1821 15133 20335 46806)												0													30	34	32					8																	37914778		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS6100.1	8p12	2008-10-08			ENSG00000187840	ENSG00000187840			3288	protein-coding gene	gene with protein product	"phosphorylated heat- and acid-stable protein regulated by insulin 1"	602223				7935836	Standard	NM_004095		Approved	PHAS-I, 4E-BP1	uc003xks.3	Q13541	OTTHUMG00000164012	ENST00000338825.4:c.325+1G>A	8.37:g.37914778G>A			B2R502|D3DSW8|Q6IBN3	Missense_Mutation	SNP	pfam_EIF4EBP	p.G109S	ENST00000338825.4	37	c.325	CCDS6100.1	8	.	.	.	.	.	.	.	.	.	.	G	9.703	1.155035	0.21371	.	.	ENSG00000187840	ENST00000338825	.	.	.	4.89	1.4	0.22301	.	0.301229	0.28630	N	0.014664	T	0.23766	0.0575	L	0.45228	1.405	0.80722	D	1	P	0.43826	0.818	B	0.26416	0.069	T	0.11084	-1.0602	9	0.12430	T	0.62	-18.0991	5.1747	0.15129	0.2428:0.1678:0.5894:0.0	.	109	Q13541	4EBP1_HUMAN	S	109	.	ENSP00000340691:G109S	G	+	1	0	EIF4EBP1	38033935	0.826000	0.29277	0.796000	0.32109	0.096000	0.18686	0.629000	0.24538	1.057000	0.40506	-0.463000	0.05309	GGT	EIF4EBP1	-	pfam_EIF4EBP	ENSG00000187840		0.622	EIF4EBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4EBP1	HGNC	protein_coding	OTTHUMT00000376743.1	-	0	56	0	G	NM_004095	Missense_Mutation	37914778	1	tier1	-	no_errors	ENST00000338825	ensembl	human	known	74_37	missense	9.18	89	9	SNP	0.299	A	A	37914778	G	A	37914778	5	1	146	1	0	0	0	0	0	0	1	0	5048	1130	39	1	331	1	EIF4EBP1	8	37914778	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	5307693	37914778	108449244	130	37172											
FGFR1	2260	genome.wustl.edu	37	chr8	38287203	38287203	+	Missense_Mutation	SNP	A	A	C	1	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	agggcttggctaccaacctgAaacattgacggagaagtagg	13	7	13	8	1	0	3	0	2	0	1	0	4	0	3	2	4	3	3	2	4	5	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:38287203A>C	ENST00000447712.2	-	3	1296	c.355T>G	c.(355-357)Tca>Gca	p.S119A	FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000341462.5_Missense_Mutation_p.S119A|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000532791.1_Missense_Mutation_p.S119A|FGFR1_ENST00000397108.4_Missense_Mutation_p.S119A|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000335922.5_Missense_Mutation_p.S111A|FGFR1_ENST00000397091.5_Missense_Mutation_p.S119A|FGFR1_ENST00000397113.2_Missense_Mutation_p.S119A|FGFR1_ENST00000425967.3_Missense_Mutation_p.S152A	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	119	Ig-like C2-type 1.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TACCAACCTGAAACATTGACG	0.632		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													78	67	70					8																	38287203		2197	4290	6487	SO:0001583	missense	0			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.355T>G	8.37:g.38287203A>C	ENSP00000400162:p.Ser119Ala		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S152A	ENST00000447712.2	37	c.454	CCDS6107.2	8	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473115	0.43942	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000335922;ENST00000397108;ENST00000326296;ENST00000525001	T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.16	5.16	0.70880	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.392064	0.26510	N	0.023978	T	0.71962	0.3402	L	0.45581	1.43	0.43164	D	0.99495	B;B;B;B;B	0.24920	0.114;0.114;0.07;0.114;0.114	B;B;B;B;B	0.24394	0.036;0.036;0.016;0.053;0.036	T	0.68507	-0.5390	10	0.30854	T	0.27	.	14.9947	0.71421	1.0:0.0:0.0:0.0	.	119;152;119;111;119	P11362-7;P11362-21;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	A	119;152;119;119;119;119;119;111;119;119;119	ENSP00000380280:S119A;ENSP00000393312:S152A;ENSP00000400162:S119A;ENSP00000340636:S119A;ENSP00000432972:S119A;ENSP00000380302:S119A;ENSP00000337247:S111A;ENSP00000380297:S119A;ENSP00000434712:S119A	ENSP00000311337:S119A	S	-	1	0	FGFR1	38406360	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.923000	0.48868	1.953000	0.56701	0.379000	0.24179	TCA	FGFR1	-	pirsf_FGF_rcpt_fam,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000077782		0.632	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		-	0	47	0	A			38287203	-1	tier1	-	no_errors	ENST00000425967	ensembl	human	known	74_37	missense	12.50	84	12	SNP	1.000	C	C	38287203	A	C	38287203	3	2	146	1	0	0	0	0	1	0	0	0	5885	246	9	4	2417	4	FGFR1	8	38287203	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	372425	38287203	108076819	131	37173											
CHD7	55636	genome.wustl.edu	37	chr8	61654949	61654949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccttacagtaacctaaatCagggattagttaacaataca	17	11	5	8	0	1	0	1	0	0	0	2	1	2	1	2	1	4	2	2	1	8	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:61654949C>G	ENST00000423902.2	+	2	1437	c.958C>G	c.(958-960)Cag>Gag	p.Q320E	CHD7_ENST00000525508.1_Missense_Mutation_p.Q320E|CHD7_ENST00000524602.1_Missense_Mutation_p.Q320E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	320					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)			TAACCTAAATCAGGGATTAGT	0.413																																																	0													92	89	90					8																	61654949		1895	4114	6009	SO:0001583	missense	0			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.958C>G	8.37:g.61654949C>G	ENSP00000392028:p.Gln320Glu		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q320E	ENST00000423902.2	37	c.958	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282018	0.40394	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	T;T;T	0.81247	-1.47;1.91;-1.08	5.67	5.67	0.87782	.	0.000000	0.40728	N	0.001022	D	0.85305	0.5666	L	0.43152	1.355	0.54753	D	0.999986	P	0.49447	0.924	P	0.62298	0.9	T	0.80659	-0.1284	10	0.21540	T	0.41	-13.4964	19.7706	0.96363	0.0:1.0:0.0:0.0	.	320	Q9P2D1	CHD7_HUMAN	E	320	ENSP00000392028:Q320E;ENSP00000437061:Q320E;ENSP00000436027:Q320E	ENSP00000307304:Q320E	Q	+	1	0	CHD7	61817503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.557000	0.73937	2.697000	0.92050	0.655000	0.94253	CAG	CHD7	-	NULL	ENSG00000171316		0.413	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0	48	0	C	XM_098762		61654949	1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	missense	8.51	86	8	SNP	1.000	G	G	61654949	C	G	61654949	3	3	146	1	0	0	0	0	1	0	0	0	3337	827	29	5	960	5	CHD7	8	61654949	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	23367746	61654949	84709073	132	37174											
ARMC1	55156	genome.wustl.edu	37	chr8	66539504	66539504	+	Missense_Mutation	SNP	G	G	T																															atggtccataaataaaataaGgccaggcagacatccctgat																										TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:66539504G>T	ENST00000276569.3	-	2	374	c.130C>A	c.(130-132)Ctt>Att	p.L44I	ARMC1_ENST00000458464.2_Missense_Mutation_p.P5H|ARMC1_ENST00000523384.1_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	44					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)			AATAAAATAAGGCCAGGCAGA	0.458																																																	0													137	135	136					8																	66539504		2203	4300	6503	SO:0001583	missense	0			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.130C>A	8.37:g.66539504G>T	ENSP00000276569:p.Leu44Ile		B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd	p.L44I	ENST00000276569.3	37	c.130	CCDS6181.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.078136|5.078136	0.94000|0.94000	.|.	.|.	ENSG00000104442|ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352|ENST00000458464	D;D;D|.	0.89196|.	-2.48;-2.48;-2.48|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.062183|.	0.64402|.	D|.	0.000003|.	T|T	0.71467|0.71467	0.3343|0.3343	M|M	0.67700|0.67700	2.07|2.07	0.39401|0.39401	D|D	0.966597|0.966597	D|D	0.63046|0.53885	0.992|0.963	P|P	0.51701|0.50378	0.677|0.639	T|T	0.76154|0.76154	-0.3063|-0.3063	10|8	0.72032|0.66056	D|D	0.01|0.02	.|.	19.3248|19.3248	0.94258|0.94258	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	44|5	Q9NVT9|B4E2W7	ARMC1_HUMAN|.	I|H	44|5	ENSP00000276569:L44I;ENSP00000429191:L44I;ENSP00000429715:L44I|.	ENSP00000276569:L44I|ENSP00000388572:P5H	L|P	-|-	1|2	0|0	ARMC1|ARMC1	66702058|66702058	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.459000|9.459000	0.97638|0.97638	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	CTT|CCT	ARMC1	-	pfam_Armadillo,superfamily_ARM-type_fold,pirsf_UCP013899_metal-bd	ENSG00000104442		0.458	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC1	HGNC	protein_coding	OTTHUMT00000378480.1		0	17	0	G	NM_018120		66539504	-1			no_errors	ENST00000276569	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	66539504	G	T	66539504	3	4	146	1	0	0	0	0	1	0	0	0	950	1000	35	3	742	3	ARMC1	8	66539504	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	4884555	66539504	79824518	133	37175	134	2									
ARMC1	55156	genome.wustl.edu	37	chr8	66539513	66539513	+	Silent	SNP	G	G	A																															aaataaaataaggccaggcaGacatccctgatcctggacga																										TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:66539513G>A	ENST00000276569.3	-	2	365	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	ARMC1_ENST00000458464.2_Missense_Mutation_p.S2F|ARMC1_ENST00000523384.1_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	41					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)			AGGCCAGGCAGACATCCCTGA	0.463																																																	0													147	143	145					8																	66539513		2203	4300	6503	SO:0001819	synonymous_variant	0			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.121C>T	8.37:g.66539513G>A			B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	superfamily_HeavyMe-assoc_HMA	p.S2F	ENST00000276569.3	37	c.5	CCDS6181.1	8	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061756	0.55432	.	.	ENSG00000104442	ENST00000458464	.	.	.	5.47	4.59	0.56863	.	.	.	.	.	T	0.41949	0.1181	.	.	.	0.27337	N	0.95663	B	0.02656	0.0	B	0.04013	0.001	T	0.40905	-0.9538	7	0.87932	D	0	.	13.3655	0.60680	0.0774:0.0:0.9226:0.0	.	2	B4E2W7	.	F	2	.	ENSP00000388572:S2F	S	-	2	0	ARMC1	66702067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.375000	0.44283	1.266000	0.44231	0.655000	0.94253	TCT	ARMC1	-	NULL	ENSG00000104442		0.463	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC1	HGNC	protein_coding	OTTHUMT00000378480.1		0	20	0	G	NM_018120		66539513	-1			no_errors	ENST00000458464	ensembl	human	known	74_37	missense	13.46	45	7	SNP	1.000	A	A	66539513	G	A	66539513	2	1	146	1	0	0	0	0	0	0	0	1	950	933	33	3		3	ARMC1	8	66539513	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	9	66539513	79824509	134	37176	134	2									
MTFR1	9650	genome.wustl.edu	37	chr8	66621257	66621258	+	Missense_Mutation	DNP	TT	TT	AG																															aggaaaaatgaaggctttaaTtgaaaatgtatcagactcct																										TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:66621257_66621258TT>AG	ENST00000262146.4	+	8	1106_1107	c.980_981TT>AG	c.(979-981)aTT>aAG	p.I327K	MTFR1_ENST00000458689.2_Missense_Mutation_p.I294K	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	327					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)			AAGGCTTTAATTGAAAATGTAT	0.381																																																	0																																										SO:0001583	missense	0				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		Exception_encountered	8.37:g.66621257_66621258delinsAG	ENSP00000262146:p.Ile327Lys		E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	pfam_Mtfr1	p.I327N|p.I327M	ENST00000262146.4	37	c.980|c.981	CCDS6182.1	8																																																																																			MTFR1	-	NULL	ENSG00000066855		0.381	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFR1	HGNC	protein_coding	OTTHUMT00000378894.1		0	55|58	0	T	NM_014637		66621257|66621258	1			no_errors	ENST00000262146	ensembl	human	known	74_37	missense	5.38	87|88	5	SNP	1.000	A|G	AG	66621258	TT	AG	66621257	3	1	146	1	0	0	0	0	1	0	0	0	9963	1493	52	5	1120	5	MTFR1	8	66621257	Missense_Mutation	DNP	TT	TCGA-R6-A6Y0-01B-11D-A33E-09	81744	66621257	79742765	135	37177											
NCOA2	10499	genome.wustl.edu	37	chr8	71078930	71078930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaggttttaccagcatccGacaattgaaggtatggctgt	12	12	10	7	1	0	1	0	1	0	0	1	2	1	1	2	3	2	4	2	3	6	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:71078930G>A	ENST00000452400.2	-	7	782	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	201					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)			ACCAGCATCCGACAATTGAAG	0.448			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													215	208	210					8																	71078930		1892	4115	6007	SO:0001583	missense	0			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.601C>T	8.37:g.71078930G>A	ENSP00000399968:p.Arg201Trp		Q14CD2	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.R201W	ENST00000452400.2	37	c.601	CCDS47872.1	8	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725867	0.89298	.	.	ENSG00000140396	ENST00000452400	T	0.03124	4.04	5.97	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.40646	-0.9552	10	0.87932	D	0	.	15.4012	0.74843	0.0666:0.0:0.9334:0.0	.	201	Q15596	NCOA2_HUMAN	W	201	ENSP00000399968:R201W	ENSP00000399968:R201W	R	-	1	2	NCOA2	71241484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.884000	0.87274	1.536000	0.49237	0.655000	0.94253	CGG	NCOA2	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000140396		0.448	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	-	0	68	0	G			71078930	-1	tier1	-	no_errors	ENST00000452400	ensembl	human	known	74_37	missense	12.34	135	19	SNP	1.000	A	A	71078930	G	A	71078930	3	1	146	1	0	0	0	0	1	0	0	0	10268	1057	37	1	3861	1	NCOA2	8	71078930	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	4457673	71078930	75285092	136	37178											
NIPAL2	79815	genome.wustl.edu	37	chr8	99217371	99217371	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacaagatgctatcatgatGataaacatgatatagaaaat	20	10	6	5	0	1	5	1	3	0	2	1	5	1	5	0	0	2	1	0	0	8	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:99217371G>C	ENST00000341166.3	-	7	1014	c.759C>G	c.(757-759)atC>atG	p.I253M	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Missense_Mutation_p.I253M	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	253						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						CTATCATGATGATAAACATGA	0.368																																																	0													101	97	99					8																	99217371		2203	4300	6503	SO:0001583	missense	0			AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.759C>G	8.37:g.99217371G>C	ENSP00000339256:p.Ile253Met		A2RTY8	Missense_Mutation	SNP	pfam_Mg_trans_NIPA	p.I253M	ENST00000341166.3	37	c.759	CCDS6278.1	8	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658686	0.47467	.	.	ENSG00000104361	ENST00000430223;ENST00000341166	D;D	0.91068	-2.78;-2.78	4.56	3.67	0.42095	.	0.215770	0.40064	N	0.001189	D	0.89567	0.6752	L	0.49126	1.545	0.25781	N	0.984724	B;P	0.43542	0.263;0.81	B;P	0.50659	0.232;0.647	T	0.82686	-0.0334	10	0.52906	T	0.07	-1.4987	7.4452	0.27207	0.236:0.0:0.764:0.0	.	253;253	A2RTY8;Q9H841	.;NPAL2_HUMAN	M	253	ENSP00000407087:I253M;ENSP00000339256:I253M	ENSP00000339256:I253M	I	-	3	3	NIPAL2	99286547	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	1.079000	0.30766	2.058000	0.61347	0.462000	0.41574	ATC	NIPAL2	-	pfam_Mg_trans_NIPA	ENSG00000104361		0.368	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	NIPAL2	HGNC	protein_coding	OTTHUMT00000379677.1	-	0	50	0	G	NM_024759		99217371	-1	tier1	-	no_errors	ENST00000341166	ensembl	human	known	74_37	missense	11.50	100	13	SNP	0.998	C	C	99217371	G	C	99217371	3	2	146	1	0	0	0	0	1	0	0	0	10464	1280	45	5	371	5	NIPAL2	8	99217371	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	28138441	99217371	47146651	137	37179											
DCAF13	81034	genome.wustl.edu	37	chr8	104427572	104427572	+	5'Flank	SNP	T	T	C	0	1	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	cgctccgcgagtcacgtgacTggaagtagtctgggaaaagc	10	7	14	10	4	2	1	1	1	1	0	3	4	3	3	1	2	1	2	1	2	4	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:104427572T>C	ENST00000297578.4	-	0	0				DCAF13_ENST00000519682.1_5'Flank|DCAF13_ENST00000297579.5_Silent_p.T118T|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000521971.1_5'Flank|DCAF13_ENST00000521716.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GTCACGTGACTGGAAGTAGTC	0.637																																																	0													38	46	43					8																	104427572		2199	4297	6496	SO:0001631	upstream_gene_variant	0			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>C	Exception_encountered		Q96JZ6|Q96SU7	Silent	SNP	pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T118	ENST00000297578.4	37	c.354	CCDS6300.1	8																																																																																			DCAF13	-	NULL	ENSG00000164934		0.637	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF13	HGNC	protein_coding	OTTHUMT00000380290.2	-	0	49	0	T	NM_030780		104427572	1	tier1	-	no_errors	ENST00000297579	ensembl	human	known	74_37	silent	8.75	73	7	SNP	0.984	C	C	104427572	T	C	104427572	1	2	146	0	1	0	0	0	0	0	0	0	4275	1567	55	4		4	DCAF13	8	104427572	5'Flank	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	5210201	104427572	41936450	138	37180											
TRPS1	7227	genome.wustl.edu	37	chr8	116617053	116617053	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggttttgcaacctcagaGgaggggagagaagcttttat	12	10	14	5	0	1	2	1	0	0	2	1	6	1	4	1	4	3	3	1	4	4	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:116617053G>C	ENST00000220888.5	-	3	1263	c.1104C>G	c.(1102-1104)tcC>tcG	p.S368S	TRPS1_ENST00000395715.3_Silent_p.S381S|TRPS1_ENST00000519674.1_Silent_p.S368S|TRPS1_ENST00000519076.1_Silent_p.S322S|TRPS1_ENST00000520276.1_Silent_p.S372S			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	368					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)			CAACCTCAGAGGAGGGGAGAG	0.408									Langer-Giedion syndrome																																								0													113	106	108					8																	116617053		1834	4091	5925	SO:0001819	synonymous_variant	0	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.1104C>G	8.37:g.116617053G>C			B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.S381	ENST00000220888.5	37	c.1143		8																																																																																			TRPS1	-	NULL	ENSG00000104447		0.408	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0	44	0	G	NM_014112		116617053	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	silent	10.53	68	8	SNP	1.000	C	C	116617053	G	C	116617053	2	2	146	1	0	0	0	0	0	0	0	1	16641	987	35	5		5	TRPS1	8	116617053	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	12189481	116617053	29746969	139	37181											
FAM135B	51059	genome.wustl.edu	37	chr8	139160865	139160865	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagaagctagtacagttaAgtcactgtacagaaatcctt	15	11	7	8	0	2	2	2	0	0	2	3	2	3	2	1	0	3	4	1	0	6	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:139160865A>C	ENST00000395297.1	-	14	3516	c.3346T>G	c.(3346-3348)Tta>Gta	p.L1116V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1116										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)			AGTACAGTTAAGTCACTGTAC	0.378										HNSCC(54;0.14)																																							0													94	85	88					8																	139160865		2203	4300	6503	SO:0001583	missense	0			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.3346T>G	8.37:g.139160865A>C	ENSP00000378710:p.Leu1116Val		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.L1116V	ENST00000395297.1	37	c.3346	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	A	12.94	2.087593	0.36855	.	.	ENSG00000147724	ENST00000395297	T	0.15834	2.39	5.78	4.61	0.57282	.	0.168206	0.39274	N	0.001417	T	0.20536	0.0494	L	0.38531	1.155	0.34370	D	0.691972	B;D	0.76494	0.36;0.999	B;D	0.63793	0.22;0.918	T	0.24835	-1.0149	10	0.02654	T	1	-1.2126	7.002	0.24815	0.7751:0.1509:0.074:0.0	.	1116;1116	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	V	1116	ENSP00000378710:L1116V	ENSP00000378710:L1116V	L	-	1	2	FAM135B	139230047	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.665000	0.46791	0.994000	0.38892	-0.323000	0.08544	TTA	FAM135B	-	NULL	ENSG00000147724		0.378	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3		0	49	0	A	NM_015912		139160865	-1			no_errors	ENST00000395297	ensembl	human	known	74_37	missense	13.75	69	11	SNP	1.000	C	C	139160865	A	C	139160865	3	2	146	1	0	0	0	0	1	0	0	0	5468	69	3	4	902	4	FAM135B	8	139160865	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	22543812	139160865	7203157	140	37182											
LYNX1	66004	genome.wustl.edu	37	chr8	143856632	143856632	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgggggccagggccaGggtggccggggtggcaaggc	6	3	24	8	1	0	0	0	0	0	0	0	2	0	1	3	10	0	1	3	10	1	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:143856632G>C	ENST00000335822.5	-	3	782				LYNX1_ENST00000395192.2_Missense_Mutation_p.L102V|LYNX1_ENST00000522906.1_5'Flank|LYNX1_ENST00000523332.1_Intron|LYNX1_ENST00000345173.6_Missense_Mutation_p.L102V|LYNX1_ENST00000398906.1_Missense_Mutation_p.L102V	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1							anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|lung(2)|skin(1)	4	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)					GCCAGGGCCAGGGTGGCCGGG	0.632																																																	0													45	43	43					8																	143856632		2202	4300	6502	SO:0001627	intron_variant	0			AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.154+378C>G	8.37:g.143856632G>C			D3DWI7|G3XAC2|Q86SR0	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.L102V	ENST00000335822.5	37	c.304	CCDS34951.1	8	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.145104	0.01714	.	.	ENSG00000180155	ENST00000395192;ENST00000398906;ENST00000345173	T;T;T	0.25579	1.79;1.79;1.79	4.6	2.72	0.32119	Ly-6 antigen / uPA receptor -like (1);	.	.	.	.	T	0.12561	0.0305	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.23574	0.047	T	0.24977	-1.0145	9	0.33141	T	0.24	.	7.1144	0.25409	0.2335:0.0:0.7665:0.0	.	102	Q9BZG9	LYNX1_HUMAN	V	102	ENSP00000378618:L102V;ENSP00000381878:L102V;ENSP00000332495:L102V	ENSP00000332495:L102V	L	-	1	2	LYNX1	143853634	0.053000	0.20554	0.627000	0.29227	0.015000	0.08874	0.652000	0.24888	1.041000	0.40125	0.655000	0.94253	CTG	LYNX1	-	smart_LY6_UPA_recep-like	ENSG00000180155		0.632	LYNX1-001	KNOWN	basic|CCDS	protein_coding	LYNX1	HGNC	protein_coding	OTTHUMT00000379786.3	-	0	30	0	G	NM_177476		143856632	-1	tier1	-	no_errors	ENST00000345173	ensembl	human	known	74_37	missense	43.75	36	28	SNP	0.399	C	C	143856632	G	C	143856632	1	2	146	0	1	0	0	0	0	0	0	0	9144	991	35	5		5	LYNX1	8	143856632	Intron	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	4695767	143856632	2507390	141	37183											
LYNX1	66004	genome.wustl.edu	37	chr8	143857078	143857078	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggttgaagcagttgtctccGttgtaggcacacacgtggca	8	10	14	9	2	1	1	0	1	1	0	2	1	1	1	1	3	1	7	1	3	2	4	rs372261422		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:143857078G>A	ENST00000335822.5	-	3	714	c.87C>T	c.(85-87)aaC>aaT	p.N29N	LYNX1_ENST00000395192.2_Silent_p.N29N|LYNX1_ENST00000522906.1_5'UTR|LYNX1_ENST00000523332.1_Silent_p.N29N|LYNX1_ENST00000345173.6_Silent_p.N29N|LYNX1_ENST00000398906.1_Silent_p.N29N	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1	29						anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|lung(2)|skin(1)	4	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)					AGTTGTCTCCGTTGTAGGCAC	0.657																																																	0								G	,,,	3,4399		0,3,2198	76	60	65		87,87,87,87	-8.6	0.9	8		65	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LYNX1	NM_023946.2,NM_177457.3,NM_177476.2,NM_177477.2	,,,	0,3,6496	AA,AG,GG		0.0,0.0682,0.0231	,,,	29/132,29/117,29/117,29/117	143857078	3,12995	2201	4298	6499	SO:0001819	synonymous_variant	0			AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.87C>T	8.37:g.143857078G>A			D3DWI7|G3XAC2|Q86SR0	Silent	SNP	pfam_LY6_UPAR	p.N29	ENST00000335822.5	37	c.87	CCDS34951.1	8																																																																																			LYNX1	-	pfam_LY6_UPAR	ENSG00000180155		0.657	LYNX1-001	KNOWN	basic|CCDS	protein_coding	LYNX1	HGNC	protein_coding	OTTHUMT00000379786.3	-	0	32	0	G	NM_177476		143857078	-1	tier1	-	no_errors	ENST00000335822	ensembl	human	known	74_37	silent	10.14	62	7	SNP	0.704	A	A	143857078	G	A	143857078	2	1	146	1	0	0	0	0	0	0	0	1	9144	1136	40	1		1	LYNX1	8	143857078	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	446	143857078	2506944	142	37184											
PLEC	5339	genome.wustl.edu	37	chr8	144995480	144995480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggacgcggttcatctcctCgtcgaagtagccgcgccggt	6	8	13	14	7	2	0	1	0	1	0	5	2	2	1	3	3	1	2	3	3	2	2	rs199661077		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:144995480C>T	ENST00000322810.4	-	32	9089	c.8920G>A	c.(8920-8922)Gag>Aag	p.E2974K	PLEC_ENST00000356346.3_Missense_Mutation_p.E2823K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2805K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2860K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2837K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2841K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2815K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2864K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2837K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2974	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						TTCATCTCCTCGTCGAAGTAG	0.677													C|||	1	0.000199681	0	0	5008	,	,		18695	0		0.001	False		,,,				2504	0																0								C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4034		0,0,2017	65	73	70		8590,8467,8443,8920,8413,8509,8521,8509	3.1	1	8		70	21,8313		0,21,4146	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	56,56,56,56,56,56,56,56	0,21,6163	TT,TC,CC		0.252,0.0,0.1698	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2864/4575,2823/4534,2815/4526,2974/4685,2805/4516,2837/4548,2841/4552,2837/4548	144995480	21,12347	2017	4167	6184	SO:0001583	missense	0			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.8920G>A	8.37:g.144995480C>T	ENSP00000323856:p.Glu2974Lys		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2974K	ENST00000322810.4	37	c.8920	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093481	0.36952	0.0	0.00252	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.95	3.09	0.35607	.	0.570097	0.14600	U	0.309709	T	0.64023	0.2561	L	0.52573	1.65	0.31525	N	0.661857	B;B;B;B;B;B;B;B	0.21309	0.025;0.025;0.025;0.054;0.025;0.025;0.025;0.025	B;B;B;B;B;B;B;B	0.16722	0.009;0.009;0.009;0.016;0.009;0.009;0.009;0.009	T	0.57888	-0.7733	10	0.16896	T	0.51	.	7.905	0.29757	0.0:0.7147:0.1337:0.1515	.	2864;2823;2815;2974;2805;2837;2841;2837	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	2837;2841;2837;2805;2974;2815;2823;2864;2860	ENSP00000344848:E2837K;ENSP00000350277:E2841K;ENSP00000346602:E2837K;ENSP00000381756:E2805K;ENSP00000323856:E2974K;ENSP00000347044:E2815K;ENSP00000348702:E2823K;ENSP00000388180:E2864K;ENSP00000434583:E2860K	ENSP00000323856:E2974K	E	-	1	0	PLEC	145067468	0.897000	0.30589	0.998000	0.56505	0.771000	0.43674	0.635000	0.24629	0.581000	0.29539	0.456000	0.33151	GAG	PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000178209		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	30	0	C	NM_000445		144995480	-1	tier1	rs199661077	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	8.70	84	8	SNP	1.000	T	T	144995480	C	T	144995480	3	4	146	1	0	0	0	0	1	0	0	0	12091	893	31	1	5138	1	PLEC	8	144995480	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	1138402	144995480	1368542	143	37185											
SHARPIN	81858	genome.wustl.edu	37	chr8	145154264	145154264	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaagaggcaaggctgcgctCaggcacacacaggcaccgtc	11	4	13	13	2	1	1	1	0	0	1	2	1	1	1	1	4	1	6	1	4	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:145154264C>G	ENST00000398712.2	-	6	1274	c.838G>C	c.(838-840)Gag>Cag	p.E280Q	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	280	Interaction with SHANK1. {ECO:0000250}.|Ubiquitin-like.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCTGCGCTCAGGCACACAC	0.627																																																	0													55	65	62					8																	145154264		2152	4259	6411	SO:0001583	missense	0			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.838G>C	8.37:g.145154264C>G	ENSP00000381698:p.Glu280Gln		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.E280Q	ENST00000398712.2	37	c.838	CCDS43777.1	8	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692305	0.48202	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.44083	0.93;0.93	4.63	4.63	0.57726	.	0.177414	0.50627	D	0.000110	T	0.28599	0.0708	N	0.20986	0.625	0.31994	N	0.604198	P	0.37330	0.59	B	0.37198	0.243	T	0.28459	-1.0043	10	0.21540	T	0.41	.	12.8664	0.57941	0.0:1.0:0.0:0.0	.	280	Q9H0F6	SHRPN_HUMAN	Q	280	ENSP00000381698:E280Q;ENSP00000352551:E280Q	ENSP00000352551:E280Q	E	-	1	0	SHARPIN	145226252	0.980000	0.34600	0.998000	0.56505	0.875000	0.50365	1.766000	0.38491	2.424000	0.82194	0.555000	0.69702	GAG	SHARPIN	-	NULL	ENSG00000179526		0.627	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382901.1	-	0	40	0	C	NM_030974		145154264	-1	tier1	-	no_errors	ENST00000398712	ensembl	human	known	74_37	missense	10.40	112	13	SNP	1.000	G	G	145154264	C	G	145154264	3	3	146	1	0	0	0	0	1	0	0	0	14312	835	29	5	337	5	SHARPIN	8	145154264	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	158784	145154264	1209758	144	37186											
ZNF517	340385	genome.wustl.edu	37	chr8	146029026	146029026	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagagtatgtggttgcagGaggcggttgtgttcgaggat	8	11	18	4	2	0	1	0	0	0	1	1	4	0	3	0	5	2	6	0	5	1	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr8:146029026G>T	ENST00000531720.1	+	2	79	c.34G>T	c.(34-36)Gag>Tag	p.E12*	ZNF517_ENST00000525105.1_Splice_Site_p.E12*|ZNF517_ENST00000359971.3_Splice_Site_p.E12*|ZNF517_ENST00000526178.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	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)			GTGGTTGCAGGAGGCGGTTGT	0.552																																																	0													174	165	168					8																	146029026		2203	4300	6503	SO:0001630	splice_region_variant	0			AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.34-1G>T	8.37:g.146029026G>T				Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E12*	ENST00000531720.1	37	c.34	CCDS6434.1	8	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123894	0.77436	.	.	ENSG00000197363	ENST00000359971;ENST00000528012;ENST00000531720;ENST00000525105	.	.	.	2.41	2.41	0.29592	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.535	0.44998	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	.	E	+	1	0	ZNF517	145999830	0.990000	0.36364	0.138000	0.22173	0.468000	0.32798	1.597000	0.36729	1.346000	0.45694	0.591000	0.81541	GAG	ZNF517	-	superfamily_Krueppel-associated_box	ENSG00000197363		0.552	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF517	HGNC	protein_coding	OTTHUMT00000382642.1		0	29	0	G	XM_291261	Nonsense_Mutation	146029026	1			no_errors	ENST00000359971	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	0.567	T	T	146029026	G	T	146029026	5	4	146	1	0	0	0	0	0	0	1	0	18009	1188	41	3	40	3	ZNF517	8	146029026	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	874762	146029026	334996	145	37187											
PTPRD	5789	genome.wustl.edu	37	chr9	8507340	8507340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtagaccagttcataGttggcaatggtatctgaacg	10	14	10	7	1	3	2	1	1	2	1	3	2	3	2	1	2	1	5	1	2	5	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:8507340G>T	ENST00000381196.4	-	19	2181	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	PTPRD_ENST00000358503.5_Missense_Mutation_p.N533K|PTPRD_ENST00000355233.5_Missense_Mutation_p.N546K|PTPRD_ENST00000486161.1_Missense_Mutation_p.N546K|PTPRD_ENST00000397617.3_Missense_Mutation_p.N536K|PTPRD_ENST00000540109.1_Missense_Mutation_p.N546K|PTPRD_ENST00000356435.5_Missense_Mutation_p.N546K|PTPRD_ENST00000397606.3_Missense_Mutation_p.N536K|PTPRD_ENST00000397611.3_Missense_Mutation_p.N543K|PTPRD_ENST00000537002.1_Missense_Mutation_p.N543K|PTPRD_ENST00000360074.4_Missense_Mutation_p.N533K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	546	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)		CCAGTTCATAGTTGGCAATGG	0.433										TSP Lung(15;0.13)																																							0													216	190	199					9																	8507340		2203	4300	6503	SO:0001583	missense	0			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.1638C>A	9.37:g.8507340G>T	ENSP00000370593:p.Asn546Lys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.N546K	ENST00000381196.4	37	c.1638	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	3.906	-0.021130	0.07634	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.321942	0.42053	D	0.000763	T	0.32823	0.0842	N	0.02286	-0.61	0.41099	D	0.985656	B;B;B;B;B;B;B;B;B	0.22211	0.0;0.001;0.001;0.001;0.0;0.0;0.002;0.066;0.003	B;B;B;B;B;B;B;B;B	0.29440	0.004;0.006;0.01;0.021;0.001;0.003;0.007;0.102;0.033	T	0.27839	-1.0062	9	.	.	.	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	536;540;546;546;543;543;533;546;546	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	546;546;533;533;546;536;543;543;546;546;546;536	ENSP00000370593:N546K;ENSP00000348812:N546K;ENSP00000353187:N533K;ENSP00000351293:N533K;ENSP00000347373:N546K;ENSP00000380741:N536K;ENSP00000380735:N543K;ENSP00000440515:N543K;ENSP00000438164:N546K;ENSP00000417093:N546K;ENSP00000380731:N536K	.	N	-	3	2	PTPRD	8497340	1.000000	0.71417	0.998000	0.56505	0.582000	0.36321	3.399000	0.52586	2.880000	0.98712	0.650000	0.86243	AAC	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	72	0	G			8507340	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	5.15	92	5	SNP	1.000	T	T	8507340	G	T	8507340	3	4	146	1	0	0	0	0	1	0	0	0	12844	1020	36	3	4268	3	PTPRD	9	8507340	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09		8507340	132706091	146	37188											
IFT74	80173	genome.wustl.edu	37	chr9	27056331	27056331	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctatttggatctttctaGaaattacatcaggagagaat	13	15	7	6	0	4	2	1	0	3	2	4	5	4	4	0	2	1	0	0	2	5	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:27056331G>T	ENST00000443698.1	+	18	1668		c.e18-1		IFT74_ENST00000380062.5_Splice_Site|IFT74_ENST00000433700.1_Splice_Site	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74						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)		GATCTTTCTAGAAATTACATC	0.279																																																	0													73	73	73					9																	27056331		1795	4063	5858	SO:0001630	splice_region_variant	0			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.1498-1G>T	9.37:g.27056331G>T			Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Splice_Site	SNP	-	e17-1	ENST00000443698.1	37	c.1498-1	CCDS43793.1	9	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559629	0.65538	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8844	0.92370	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT74	27046331	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.442000	0.80503	2.466000	0.83321	0.655000	0.94253	.	IFT74	-	-	ENSG00000096872		0.279	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT74	HGNC	protein_coding	OTTHUMT00000055476.2		0	23	0	G	NM_025103	Intron	27056331	1			no_errors	ENST00000380062	ensembl	human	known	74_37	splice_site	7.55	49	4	SNP	1.000	T	T	27056331	G	T	27056331	5	4	146	1	0	0	0	0	0	0	1	0	7590	956	33	3	1632	3	IFT74	9	27056331	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	18548991	27056331	114157100	147	37189											
TLN1	7094	genome.wustl.edu	37	chr9	35700259	35700259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaatgacatcttcctggcGacaggaattgccagcagcaa	12	7	11	11	1	1	1	0	1	1	0	2	3	2	2	2	3	3	3	2	3	3	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:35700259G>A	ENST00000314888.9	-	49	6942	c.6589C>T	c.(6589-6591)Cgc>Tgc	p.R2197C	TLN1_ENST00000540444.1_Missense_Mutation_p.R2085C	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2197					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)			TCTTCCTGGCGACAGGAATTG	0.547																																																	0													68	66	67					9																	35700259		2203	4300	6503	SO:0001583	missense	0			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.6589C>T	9.37:g.35700259G>A	ENSP00000316029:p.Arg2197Cys		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.R2197C	ENST00000314888.9	37	c.6589	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.322456	0.95708	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.69435	-0.4;-0.39	5.2	5.2	0.72013	.	0.057011	0.64402	D	0.000002	T	0.72763	0.3501	M	0.76002	2.32	0.80722	D	1	D	0.69078	0.997	P	0.46510	0.519	T	0.78663	-0.2116	10	0.72032	D	0.01	-9.9539	18.3575	0.90362	0.0:0.0:1.0:0.0	.	2197	Q9Y490	TLN1_HUMAN	C	2197;2085	ENSP00000316029:R2197C;ENSP00000442981:R2085C	ENSP00000316029:R2197C	R	-	1	0	TLN1	35690259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.082000	0.57635	2.436000	0.82500	0.655000	0.94253	CGC	TLN1	-	NULL	ENSG00000137076		0.547	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	-	0	29	0	G	NM_006289		35700259	-1	tier1	-	no_errors	ENST00000314888	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	A	A	35700259	G	A	35700259	3	1	146	1	0	0	0	0	1	0	0	0	15994	1058	37	1	1072	1	TLN1	9	35700259	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	8643928	35700259	105513172	148	37190											
RECK	8434	genome.wustl.edu	37	chr9	36083446	36083446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgaacagactcttctcCtggtccatctcagataaaag	11	13	6	11	1	3	2	1	0	3	2	7	3	4	2	2	1	1	0	2	1	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:36083446C>A	ENST00000377966.3	+	8	1090	c.524C>A	c.(523-525)cCt>cAt	p.P175H	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	175	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)			GACTCTTCTCCTGGTCCATCT	0.398																																																	0													95	88	90					9																	36083446		2203	4300	6503	SO:0001583	missense	0			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.524C>A	9.37:g.36083446C>A	ENSP00000367202:p.Pro175His		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom	p.P175H	ENST00000377966.3	37	c.524	CCDS6597.1	9	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955877	0.92726	.	.	ENSG00000122707	ENST00000377966	T	0.46819	0.86	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	N	0.24115	0.695	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.991	T	0.61417	-0.7067	10	0.87932	D	0	-14.9005	17.1032	0.86655	0.0:1.0:0.0:0.0	.	175;175;175;175	B2RCE6;A8K9D8;O95980;Q6P9E2	.;.;RECK_HUMAN;.	H	175	ENSP00000367202:P175H	ENSP00000367202:P175H	P	+	2	0	RECK	36073446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.628000	0.89032	0.650000	0.86243	CCT	RECK	-	NULL	ENSG00000122707		0.398	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1		0	41	0	C			36083446	1			no_errors	ENST00000377966	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	36083446	C	A	36083446	3	1	146	1	0	0	0	0	1	0	0	0	13245	681	24	3	554	3	RECK	9	36083446	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	383187	36083446	105129985	149	37191											
SMC5	23137	genome.wustl.edu	37	chr9	72892250	72892250	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggcttctggaaatcttgtAatcacccgtgagattgatgt	10	13	11	7	1	3	2	1	2	2	1	3	4	3	3	1	2	0	2	1	2	2	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:72892250A>G	ENST00000361138.5	+	4	463	c.405A>G	c.(403-405)gtA>gtG	p.V135V		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	135					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						GAAATCTTGTAATCACCCGTG	0.299																																																	0													62	64	63					9																	72892250		2203	4300	6503	SO:0001819	synonymous_variant	0			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.405A>G	9.37:g.72892250A>G			A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Silent	SNP	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	p.V135	ENST00000361138.5	37	c.405	CCDS6632.1	9																																																																																			SMC5	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000198887		0.299	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	HGNC	protein_coding	OTTHUMT00000052603.1	-	0	82	0	A	NM_015110		72892250	1	tier1	-	no_errors	ENST00000361138	ensembl	human	known	74_37	silent	9.92	109	12	SNP	0.805	G	G	72892250	A	G	72892250	2	3	146	1	0	0	0	0	0	0	0	1	14831	349	13	4		4	SMC5	9	72892250	Silent	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	36808804	72892250	68321181	150	37192											
ZCCHC6	79670	genome.wustl.edu	37	chr9	88924479	88924479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctctagatgcatcacCaatatcacacatctagacag	13	9	6	13	0	4	2	2	0	2	2	4	2	4	2	2	0	2	2	2	0	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:88924479C>A	ENST00000375963.3	-	20	3653	c.3481G>T	c.(3481-3483)Ggt>Tgt	p.G1161C	ZCCHC6_ENST00000375957.1_Intron|ZCCHC6_ENST00000375961.2_Intron|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.G925C|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.G450C	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1161					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						GATGCATCACCAATATCACAC	0.393																																																	0													84	82	82					9																	88924479		2203	4300	6503	SO:0001583	missense	0			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.3481G>T	9.37:g.88924479C>A	ENSP00000365130:p.Gly1161Cys		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.G1161C	ENST00000375963.3	37	c.3481	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670743	0.88348	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375963	T;T;T	0.55760	0.5;0.5;0.5	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.992;0.998	T	0.72083	-0.4397	10	0.72032	D	0.01	2.5357	19.1356	0.93426	0.0:1.0:0.0:0.0	.	925;1161	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	C	450;925;1161	ENSP00000277141:G450C;ENSP00000365127:G925C;ENSP00000365130:G1161C	ENSP00000277141:G450C	G	-	1	0	ZCCHC6	88114299	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.320000	0.79064	2.826000	0.97356	0.655000	0.94253	GGT	ZCCHC6	-	NULL	ENSG00000083223		0.393	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	-	0	39	0	C	NM_024617		88924479	-1	tier1	-	no_errors	ENST00000375963	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A	A	88924479	C	A	88924479	3	1	146	1	0	0	0	0	1	0	0	0	17640	594	21	3	1038	3	ZCCHC6	9	88924479	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	16032229	88924479	52288952	151	37193											
CDC14B	8555	genome.wustl.edu	37	chr9	99284790	99284790	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaacccagactcacgtGagaggaatagcgtttgtttt	13	10	11	7	2	1	2	1	1	0	2	1	5	1	4	1	2	2	2	1	2	4	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:99284790G>T	ENST00000375241.1	-	12	1792	c.1341C>A	c.(1339-1341)ctC>ctA	p.L447L	CDC14B_ENST00000481149.1_5'UTR|CDC14B_ENST00000265659.2_Silent_p.L447L|CDC14B_ENST00000375240.3_Silent_p.L447L|CDC14B_ENST00000463569.1_Silent_p.L447L|CDC14B_ENST00000375242.3_Silent_p.L410L|CDC14B_ENST00000375236.1_Silent_p.L447L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	447					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AGACTCACGTGAGAGGAATAG	0.438																																																	0													239	168	192					9																	99284790		2203	4300	6503	SO:0001819	synonymous_variant	0			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1719	protein-coding gene	gene with protein product		603505	"CDC14 (cell division cycle 14, S. cerevisiae) homolog B", "CDC14 cell division cycle 14 homolog B (S. cerevisiae)"			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1341C>A	9.37:g.99284790G>T			A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L447	ENST00000375241.1	37	c.1341	CCDS6722.1	9																																																																																			CDC14B	-	NULL	ENSG00000081377		0.438	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC14B	HGNC	protein_coding	OTTHUMT00000053278.2	-	0	79	0	G	NM_033331		99284790	-1	tier1	-	no_errors	ENST00000375241	ensembl	human	known	74_37	silent	17.95	128	28	SNP	1.000	T	T	99284790	G	T	99284790	2	4	146	1	0	0	0	0	0	0	0	1	3064	1277	45	3		3	CDC14B	9	99284790	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	10360311	99284790	41928641	152	37194											
TRIM14	9830	genome.wustl.edu	37	chr9	100857153	100857153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcggcgacttactttcCttaaggcgaatgtccaatgg	9	12	9	11	3	1	0	1	0	0	0	4	2	3	0	2	3	1	0	2	3	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:100857153C>T	ENST00000341469.2	-	4	705	c.696G>A	c.(694-696)aaG>aaA	p.K232K	TRIM14_ENST00000538344.1_5'Flank|TRIM14_ENST00000342043.3_Silent_p.K232K|TRIM14_ENST00000375098.3_Silent_p.K232K	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	232					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				ACTTACTTTCCTTAAGGCGAA	0.512																																					Colon(14;460 597 13826 51781)												0													120	104	109					9																	100857153		2203	4300	6503	SO:0001819	synonymous_variant	0			AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"Tripartite motif containing / Tripartite motif containing"	16283	protein-coding gene	gene with protein product		606556	"tripartite motif-containing 14"			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.696G>A	9.37:g.100857153C>T			A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.K232	ENST00000341469.2	37	c.696	CCDS6734.1	9																																																																																			TRIM14	-	NULL	ENSG00000106785		0.512	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM14	HGNC	protein_coding	OTTHUMT00000053350.1	-	0	97	0	C	NM_014788		100857153	-1	tier1	-	no_errors	ENST00000341469	ensembl	human	known	74_37	silent	20.35	90	23	SNP	0.984	T	T	100857153	C	T	100857153	2	4	146	1	0	0	0	0	0	0	0	1	16537	680	24	3		3	TRIM14	9	100857153	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	1572363	100857153	40356278	153	37195											
ZNF483	158399	genome.wustl.edu	37	chr9	114303963	114303963	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctttagataaaataataGaaaggtgcctcagggatgat	16	10	10	5	0	1	3	1	1	0	2	1	4	1	4	1	2	2	1	1	2	6	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:114303963G>T	ENST00000309235.5	+	6	906	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TAAAATAATAGAAAGGTGCCT	0.378																																																	0													47	50	49					9																	114303963		2202	4298	6500	SO:0001587	stop_gained	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.748G>T	9.37:g.114303963G>T	ENSP00000311679:p.Glu250*		Q5VZN2|Q8NAE1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E250*	ENST00000309235.5	37	c.748	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.539866	0.96474	.	.	ENSG00000173258	ENST00000309235	.	.	.	4.36	4.36	0.52297	.	0.143842	0.32343	N	0.006228	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-19.2079	10.672	0.45764	0.0:0.1936:0.8064:0.0	.	.	.	.	X	250	.	ENSP00000311679:E250X	E	+	1	0	ZNF483	113343784	0.977000	0.34250	0.984000	0.44739	0.968000	0.65278	1.697000	0.37784	2.732000	0.93576	0.591000	0.81541	GAA	ZNF483	-	NULL	ENSG00000173258		0.378	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1		0	18	0	G	XM_088567		114303963	1			no_errors	ENST00000309235	ensembl	human	known	74_37	nonsense	9.76	37	4	SNP	1.000	T	T	114303963	G	T	114303963	4	4	146	1	0	0	0	0	0	1	0	0	17984	943	33	3	766	3	ZNF483	9	114303963	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	13446810	114303963	26909468	154	37196											
NUP188	23511	genome.wustl.edu	37	chr9	131720321	131720321	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagaggcagagccaggcCttaatcctgaaggtcagtag	12	7	14	8	0	1	3	1	2	0	2	2	5	2	3	3	3	1	2	3	3	3	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:131720321C>A	ENST00000372577.2	+	6	381	c.360C>A	c.(358-360)gcC>gcA	p.A120A		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	120					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						AGAGCCAGGCCTTAATCCTGA	0.393																																																	0													99	91	94					9																	131720321		2203	4300	6503	SO:0001819	synonymous_variant	0			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.360C>A	9.37:g.131720321C>A			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.A120	ENST00000372577.2	37	c.360	CCDS35156.1	9																																																																																			NUP188	-	pfam_Nucleoporin_Nup188	ENSG00000095319		0.393	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	-	0	39	0	C			131720321	1	tier1	-	no_errors	ENST00000372577	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.999	A	A	131720321	C	A	131720321	2	1	146	1	0	0	0	0	0	0	0	1	10797	668	24	3		3	NUP188	9	131720321	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	17416358	131720321	9493110	155	37197											
ASB6	140459	genome.wustl.edu	37	chr9	132400710	132400710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaacactgtgtccccatCtttggtggtggccttgacgt	5	13	13	10	1	1	2	0	2	1	0	2	2	2	2	3	4	1	0	3	4	1	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:132400710C>A	ENST00000277458.4	-	6	790	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	ASB6_ENST00000450050.2_Missense_Mutation_p.D130Y|RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000277459.4_Missense_Mutation_p.K172N	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	209					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GTGTCCCCATCTTTGGTGGTG	0.547																																																	0													69	74	72					9																	132400710		2203	4300	6503	SO:0001583	missense	0				CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	17181	protein-coding gene	gene with protein product		615051	"ankyrin repeat and SOCS box-containing 6"				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.625G>T	9.37:g.132400710C>A	ENSP00000277458:p.Asp209Tyr		Q5SZB7|Q9BV15	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.D209Y	ENST00000277458.4	37	c.625	CCDS6924.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.45|19.45	3.829805|3.829805	0.71258|0.71258	.|.	.|.	ENSG00000148331|ENSG00000148331	ENST00000277458;ENST00000450050|ENST00000277459	T;T|T	0.52983|0.59364	0.64;0.64|0.27	4.45|4.45	4.45|4.45	0.53987|0.53987	Ankyrin repeat-containing domain (3);|.	0.051435|.	0.85682|.	D|.	0.000000|.	T|T	0.53578|0.53578	0.1805|0.1805	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|B	0.89917|0.24043	1.0;0.99;1.0|0.096	D;D;D|B	0.74023|0.30105	0.982;0.925;0.982|0.111	T|T	0.54642|0.54642	-0.8263|-0.8263	9|8	0.20519|0.46703	T|T	0.43|0.11	-25.2381|-25.2381	16.2407|16.2407	0.82405|0.82405	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	130;209;209|172	B4DRC4;A8K9U2;Q9NWX5|Q9NWX5-2	.;.;ASB6_HUMAN|.	Y|N	209;130|172	ENSP00000277458:D209Y;ENSP00000416172:D130Y|ENSP00000277459:K172N	ENSP00000277458:D209Y|ENSP00000277459:K172N	D|K	-|-	1|3	0|2	ASB6|ASB6	131440531|131440531	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.917000|0.917000	0.54804|0.54804	5.212000|5.212000	0.65225|0.65225	2.288000|2.288000	0.76882|0.76882	0.462000|0.462000	0.41574|0.41574	GAT|AAG	ASB6	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000148331		0.547	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB6	HGNC	protein_coding	OTTHUMT00000054594.1	-	0	44	0	C	NM_017873		132400710	-1	tier1	-	no_errors	ENST00000277458	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	A	A	132400710	C	A	132400710	3	1	146	1	0	0	0	0	1	0	0	0	1028	913	32	3	644	3	ASB6	9	132400710	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	680389	132400710	8812721	156	37198											
UCK1	83549	genome.wustl.edu	37	chr9	134404652	134404652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaccaccgtggtctctGgtaacctgaggggcgcacgg	7	7	16	11	3	1	2	0	1	1	1	2	2	1	2	3	6	1	3	3	6	2	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:134404652G>T	ENST00000372215.4	-	4	464	c.371C>A	c.(370-372)cCa>cAa	p.P124Q	UCK1_ENST00000372208.3_Missense_Mutation_p.P124Q|UCK1_ENST00000372210.3_Missense_Mutation_p.P115Q|UCK1_ENST00000372211.3_Missense_Mutation_p.P129Q|UCK1_ENST00000459858.1_5'UTR	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	124					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CGTGGTCTCTGGTAACCTGAG	0.602																																					Melanoma(42;523 1129 28385 43975 48113)												0													49	48	48					9																	134404652		2203	4300	6503	SO:0001583	missense	0			AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.371C>A	9.37:g.134404652G>T	ENSP00000361289:p.Pro124Gln		Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Missense_Mutation	SNP	pfam_PRK/URK,superfamily_P-loop_NTPase,prints_Uridine_kinase	p.P129Q	ENST00000372215.4	37	c.386	CCDS6944.1	9	.	.	.	.	.	.	.	.	.	.	G	1.737	-0.492678	0.04322	.	.	ENSG00000130717	ENST00000372215;ENST00000372208;ENST00000372211;ENST00000372210	.	.	.	4.99	0.502	0.16932	Phosphoribulokinase/uridine kinase (1);	0.571816	0.18689	N	0.133919	T	0.29355	0.0731	L	0.35854	1.095	0.09310	N	0.999999	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.17433	0.002;0.018;0.002	T	0.19484	-1.0304	9	0.27082	T	0.32	-9.2465	9.5984	0.39589	0.4878:0.0:0.5122:0.0	.	115;124;124	Q5JT10;Q9HA47-2;Q9HA47	.;.;UCK1_HUMAN	Q	124;124;129;115	.	ENSP00000361282:P124Q	P	-	2	0	UCK1	133394473	0.140000	0.22579	0.017000	0.16124	0.109000	0.19521	1.856000	0.39389	-0.143000	0.11334	-0.812000	0.03155	CCA	UCK1	-	pfam_PRK/URK,superfamily_P-loop_NTPase	ENSG00000130717		0.602	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCK1	HGNC	protein_coding	OTTHUMT00000054726.1		0	28	0	G	NM_031432		134404652	-1			no_errors	ENST00000372211	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.018	T	T	134404652	G	T	134404652	3	4	146	1	0	0	0	0	1	0	0	0	16972	1348	47	3	478	3	UCK1	9	134404652	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	2003942	134404652	6808779	157	37199											
ABCA2	20	genome.wustl.edu	37	chr9	139916857	139916857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggccgtgctattgggcagCgacaagttttgcgtcaggaa	8	10	15	8	3	1	0	1	0	0	0	1	2	1	1	1	3	3	3	1	3	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr9:139916857C>T	ENST00000371605.3	-	5	657	c.510G>A	c.(508-510)tcG>tcA	p.S170S	ABCA2_ENST00000265662.5_Silent_p.S171S|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Silent_p.S171S			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	170					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)		TATTGGGCAGCGACAAGTTTT	0.642																																																	0													35	41	39					9																	139916857		2029	4165	6194	SO:0001819	synonymous_variant	0			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.510G>A	9.37:g.139916857C>T			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S171	ENST00000371605.3	37	c.513		9																																																																																			ABCA2	-	NULL	ENSG00000107331		0.642	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		-	0	27	0	C	NM_001606		139916857	-1	tier1	-	no_errors	ENST00000265662	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.139	T	T	139916857	C	T	139916857	2	4	146	1	0	0	0	0	0	0	0	1	32	755	27	1		1	ABCA2	9	139916857	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	5512205	139916857	1296574	158	37200											
MCM10	55388	genome.wustl.edu	37	chr10	13213247	13213247	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaggcgagagaaaacGaatgaagagttgcaaggtgc	14	4	14	9	2	0	3	0	1	0	2	0	6	0	3	2	2	3	2	2	2	5	1	rs142919178	byFrequency	TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:13213247G>T	ENST00000484800.2	+	3	436	c.333G>T	c.(331-333)acG>acT	p.T111T	MCM10_ENST00000378694.1_Silent_p.T111T|MCM10_ENST00000378714.3_Silent_p.T111T			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	111	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GAGAGAAAACGAATGAAGAGT	0.453																																																	0													45	44	44					10																	13213247		2203	4300	6503	SO:0001819	synonymous_variant	0			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.333G>T	10.37:g.13213247G>T			A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.T111	ENST00000484800.2	37	c.333	CCDS7096.1	10																																																																																			MCM10	-	NULL	ENSG00000065328		0.453	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	-	0	31	0	G	NM_182751		13213247	1	tier1	-	no_errors	ENST00000484800	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.006	T	T	13213247	G	T	13213247	2	4	146	1	0	0	0	0	0	0	0	1	9423	1045	37	2		2	MCM10	10	13213247	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09		13213247	122321500	159	37201											
FRMD4A	55691	genome.wustl.edu	37	chr10	13824953	13824953	+	Missense_Mutation	SNP	A	A	G	1	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	aggacttcgcgttcagaaagAaaagctcaatggtagcatta	15	9	10	7	2	2	2	2	0	0	2	3	3	2	3	0	2	2	4	0	2	6	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:13824953A>G	ENST00000357447.2	-	6	721	c.353T>C	c.(352-354)tTc>tCc	p.F118S	FRMD4A_ENST00000358621.4_Missense_Mutation_p.F103S|FRMD4A_ENST00000378503.1_Missense_Mutation_p.F118S|FRMD4A_ENST00000342409.2_Missense_Mutation_p.F134S	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	118	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						GTTCAGAAAGAAAAGCTCAAT	0.418																																																	0													193	189	191					10																	13824953		2203	4300	6503	SO:0001583	missense	0			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.353T>C	10.37:g.13824953A>G	ENSP00000350032:p.Phe118Ser		A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.F118S	ENST00000357447.2	37	c.353	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	A	26.5	4.739777	0.89573	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.53	5.53	0.82687	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	0.67878	0.2940	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	T	0.76247	-0.3029	10	0.87932	D	0	-20.0677	14.6439	0.68745	1.0:0.0:0.0:0.0	.	134;151;118	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	S	103;118;118;151;134	ENSP00000351438:F103S;ENSP00000350032:F118S;ENSP00000367764:F118S;ENSP00000264546:F151S;ENSP00000344237:F134S	ENSP00000264546:F151S	F	-	2	0	FRMD4A	13864959	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.685000	0.91246	2.103000	0.63969	0.460000	0.39030	TTC	FRMD4A	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000151474		0.418	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	-	0	59	0	A	NM_018027		13824953	-1	tier1	-	no_errors	ENST00000357447	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	G	G	13824953	A	G	13824953	3	3	146	1	0	0	0	0	1	0	0	0	6075	246	9	4	2842	4	FRMD4A	10	13824953	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	611706	13824953	121709794	160	37202											
SPAG6	9576	genome.wustl.edu	37	chr10	22690089	22690089	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattctgctttgtatttctaGagtaaaaaagccataaagaa	16	13	6	6	0	2	2	0	0	2	2	2	2	2	2	1	0	2	3	1	0	8	7			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:22690089G>C	ENST00000376624.3	+	9	1339		c.e9-1		SPAG6_ENST00000376601.1_Splice_Site|SPAG6_ENST00000490361.1_Splice_Site|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Splice_Site|SPAG6_ENST00000313311.6_Splice_Site|SPAG6_ENST00000376603.2_Splice_Site	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6						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						TGTATTTCTAGAGTAAAAAAG	0.318																																																	0													79	80	79					10																	22690089		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1198-1G>C	10.37:g.22690089G>C			A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Splice_Site	SNP	-	e9-1	ENST00000376624.3	37	c.1426-1	CCDS7139.1	10	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092318	0.76756	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630;ENST00000456231;ENST00000313311	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7921	0.91978	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPAG6	22730095	1.000000	0.71417	0.974000	0.42286	0.911000	0.54048	4.891000	0.63185	2.443000	0.82685	0.650000	0.86243	.	SPAG6	-	-	ENSG00000077327		0.318	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1	-	0	33	0	G		Intron	22690089	1	tier1	-	no_errors	ENST00000376603	ensembl	human	known	74_37	splice_site	17.91	54	12	SNP	1.000	C	C	22690089	G	C	22690089	5	2	146	1	0	0	0	0	0	0	1	0	15029	956	33	5	1231	5	SPAG6	10	22690089	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	8865136	22690089	112844658	161	37203											
ZNF33A	7581	genome.wustl.edu	37	chr10	38343841	38343841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatagttcatccctcttGttccatcagatatctccgtc	7	16	6	12	1	4	2	2	1	2	1	8	2	6	2	3	0	0	2	3	0	2	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:38343841G>T	ENST00000458705.2	+	5	944	c.786G>T	c.(784-786)ttG>ttT	p.L262F	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.L262F|ZNF33A_ENST00000432900.2_Missense_Mutation_p.L269F|ZNF33A_ENST00000374618.3_Missense_Mutation_p.L263F			Q06730	ZN33A_HUMAN	zinc finger protein 33A	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)|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						CATCCCTCTTGTTCCATCAGA	0.383																																																	0													72	68	69					10																	38343841		2203	4300	6503	SO:0001583	missense	0			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.786G>T	10.37:g.38343841G>T	ENSP00000387713:p.Leu262Phe		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L269F	ENST00000458705.2	37	c.807	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	G	0.242	-1.012933	0.02095	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.06371	3.33;3.33;3.31;3.31	2.05	-4.09	0.03951	.	0.928993	0.08737	N	0.901195	T	0.03651	0.0104	L	0.39514	1.22	0.09310	N	1	B;B;B	0.20671	0.047;0.007;0.007	B;B;B	0.17433	0.018;0.006;0.009	T	0.48570	-0.9024	10	0.09084	T	0.74	.	1.1321	0.01747	0.2902:0.1629:0.3841:0.1628	.	269;262;263	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	F	263;269;262;262	ENSP00000363747:L263F;ENSP00000402467:L269F;ENSP00000387713:L262F;ENSP00000304268:L262F	ENSP00000304268:L262F	L	+	3	2	ZNF33A	38383847	0.000000	0.05858	0.020000	0.16555	0.310000	0.27922	-2.260000	0.01177	-1.047000	0.03242	0.460000	0.39030	TTG	ZNF33A	-	NULL	ENSG00000189180		0.383	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1		0	17	0	G	NM_006974		38343841	1			no_errors	ENST00000432900	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	T	T	38343841	G	T	38343841	3	4	146	1	0	0	0	0	1	0	0	0	17902	1368	48	3	803	3	ZNF33A	10	38343841	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	15653752	38343841	97190906	162	37204											
RET	5979	genome.wustl.edu	37	chr10	43601870	43601870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgatgcagacgtggtacCtgcatcaggggagctggtga	8	9	15	9	2	1	2	1	1	0	1	2	4	1	3	1	4	4	4	1	4	1	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:43601870C>A	ENST00000355710.3	+	5	1146	c.914C>A	c.(913-915)cCt>cAt	p.P305H	RET_ENST00000340058.5_Missense_Mutation_p.P305H	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	305					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GACGTGGTACCTGCATCAGGG	0.662		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0													59	45	50					10																	43601870		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.914C>A	10.37:g.43601870C>A	ENSP00000347942:p.Pro305His		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	p.P305H	ENST00000355710.3	37	c.914	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007081	0.54361	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;D	0.82167	-1.44;-1.58	5.05	5.05	0.67936	.	0.160627	0.56097	D	0.000026	D	0.89632	0.6771	M	0.63843	1.955	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.976;0.976;0.996	D	0.90438	0.4429	10	0.87932	D	0	.	15.9341	0.79688	0.0:1.0:0.0:0.0	.	51;305;305	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	H	305	ENSP00000347942:P305H;ENSP00000344798:P305H	ENSP00000344798:P305H	P	+	2	0	RET	42921876	0.997000	0.39634	0.777000	0.31699	0.154000	0.21943	4.705000	0.61838	2.618000	0.88619	0.467000	0.42956	CCT	RET	-	pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like	ENSG00000165731		0.662	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2		0	28	0	C	NM_020975		43601870	1			no_errors	ENST00000355710	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.910	A	A	43601870	C	A	43601870	3	1	146	1	0	0	0	0	1	0	0	0	13280	681	24	3	932	3	RET	10	43601870	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	5258029	43601870	91932877	163	37205											
ZNF22	7570	genome.wustl.edu	37	chr10	45498857	45498857	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgggtatttctcggagctCaagccaaggaaaggcctatg	11	8	13	9	2	2	0	1	0	1	0	3	2	2	2	2	4	3	2	2	4	5	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:45498857C>G	ENST00000298299.3	+	2	634	c.41C>G	c.(40-42)tCa>tGa	p.S14*	CEP164P1_ENST00000456938.2_RNA|C10orf25_ENST00000298298.1_5'Flank	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	14					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)				TCTCGGAGCTCAAGCCAAGGA	0.458																																																	0													60	64	63					10																	45498857		2203	4300	6503	SO:0001587	stop_gained	0			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.41C>G	10.37:g.45498857C>G	ENSP00000298299:p.Ser14*		Q5T741|Q96FM4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S14*	ENST00000298299.3	37	c.41	CCDS7211.1	10	.	.	.	.	.	.	.	.	.	.	C	40	8.453381	0.98817	.	.	ENSG00000165512	ENST00000298299	.	.	.	4.94	4.94	0.65067	.	0.385029	0.19198	N	0.120243	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-1.3829	16.0476	0.80731	0.0:1.0:0.0:0.0	.	.	.	.	X	14	.	ENSP00000298299:S14X	S	+	2	0	ZNF22	44818863	0.000000	0.05858	1.000000	0.80357	0.961000	0.63080	0.503000	0.22610	2.706000	0.92434	0.655000	0.94253	TCA	ZNF22	-	NULL	ENSG00000165512		0.458	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF22	HGNC	protein_coding	OTTHUMT00000047761.1	-	0	43	0	C	NM_006963		45498857	1	tier1	-	no_errors	ENST00000298299	ensembl	human	known	74_37	nonsense	14.29	48	8	SNP	0.949	G	G	45498857	C	G	45498857	4	3	146	1	0	0	0	0	0	1	0	0	17822	838	29	5	43	5	ZNF22	10	45498857	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	1896987	45498857	90035890	164	37206											
CCAR1	55749	genome.wustl.edu	37	chr10	70520826	70520826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaaaggattaaaatcccaGttaatagcccgattgacaaa	17	9	6	9	1	0	1	0	1	0	0	2	3	2	2	3	1	1	1	3	1	6	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:70520826G>T	ENST00000265872.6	+	16	2102	c.1983G>T	c.(1981-1983)caG>caT	p.Q661H	CCAR1_ENST00000543719.1_Missense_Mutation_p.Q646H|MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000535016.1_Missense_Mutation_p.Q646H	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	661	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				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						TAAAATCCCAGTTAATAGCCC	0.353																																																	0													70	73	72					10																	70520826		2203	4299	6502	SO:0001583	missense	0			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.1983G>T	10.37:g.70520826G>T	ENSP00000265872:p.Gln661His		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom	p.Q661H	ENST00000265872.6	37	c.1983	CCDS7282.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.51|15.51	2.854631|2.854631	0.51376|0.51376	.|.	.|.	ENSG00000060339|ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012|ENST00000543706	T;T;T;T;T;T|.	0.29917|.	1.55;1.72;1.72;1.72;1.77;1.75|.	5.43|5.43	4.53|4.53	0.55603|0.55603	DNA-binding SAP (4);|.	0.060025|.	0.64402|.	D|.	0.000002|.	T|T	0.64757|0.64757	0.2627|0.2627	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.71674|.	0.988;0.996;0.998|.	D;D;D|.	0.81914|.	0.984;0.995;0.955|.	T|T	0.63730|0.63730	-0.6571|-0.6571	10|5	0.72032|.	D|.	0.01|.	-8.4663|-8.4663	10.399|10.399	0.44218|0.44218	0.1489:0.0:0.8511:0.0|0.1489:0.0:0.8511:0.0	.|.	646;661;635|.	Q8IX12-2;Q8IX12;F5H2E6|.	.;CCAR1_HUMAN;.|.	H|F	661;646;646;646;635;466|31	ENSP00000265872:Q661H;ENSP00000441820:Q646H;ENSP00000445254:Q646H;ENSP00000439252:Q646H;ENSP00000438610:Q635H;ENSP00000439642:Q466H|.	ENSP00000265872:Q661H|.	Q|V	+|+	3|1	2|0	CCAR1|CCAR1	70190832|70190832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	4.424000|4.424000	0.59868|0.59868	1.299000|1.299000	0.44798|0.44798	0.655000|0.655000	0.94253|0.94253	CAG|GTT	CCAR1	-	pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	ENSG00000060339		0.353	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	-	0	47	0	G	NM_018237		70520826	1	tier1	-	no_errors	ENST00000265872	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	70520826	G	T	70520826	3	4	146	1	0	0	0	0	1	0	0	0	2737	1020	36	3	2041	3	CCAR1	10	70520826	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	25021969	70520826	65013921	165	37207											
CDH23	64072	genome.wustl.edu	37	chr10	73572558	73572558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgagccagcagctgtcaagCctgatgatgaccgatacctg	10	8	12	11	1	1	4	1	4	0	0	1	5	1	4	4	0	5	2	4	0	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:73572558C>A	ENST00000224721.6	+	67	9564	c.9559C>A	c.(9559-9561)Cct>Act	p.P3187T	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.P942T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3182					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						AGCTGTCAAGCCTGATGATGA	0.587																																																	0													46	50	49					10																	73572558		2091	4213	6304	SO:0001583	missense	0			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.9559C>A	10.37:g.73572558C>A	ENSP00000224721:p.Pro3187Thr		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P942T	ENST00000224721.6	37	c.2824		10	.	.	.	.	.	.	.	.	.	.	C	32	5.173999	0.94807	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	D	0.84298	-1.83	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.91005	0.7171	L	0.54323	1.7	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;0.996;0.996	D	0.91174	0.4971	10	0.66056	D	0.02	.	19.1626	0.93539	0.0:1.0:0.0:0.0	.	79;79;3182;3182	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	T	3187;3182;3185;942	ENSP00000381768:P942T	ENSP00000224721:P3187T	P	+	1	0	CDH23	73242564	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.598000	0.82745	2.768000	0.95171	0.561000	0.74099	CCT	CDH23	-	NULL	ENSG00000107736		0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	-	0	39	0	C	NM_052836		73572558	1	tier1	-	no_errors	ENST00000398788	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	A	A	73572558	C	A	73572558	3	1	146	1	0	0	0	0	1	0	0	0	3115	739	26	3	10230	3	CDH23	10	73572558	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	3051732	73572558	61962189	166	37208											
FUT11	170384	genome.wustl.edu	37	chr10	75533542	75533542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccacacctggctttGgcaatgtggaagagattcct	9	10	11	11	0	0	1	0	0	0	1	1	3	1	2	3	3	1	2	3	3	2	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:75533542G>T	ENST00000372841.3	+	2	1346	c.1303G>T	c.(1303-1305)Ggc>Tgc	p.G435C	FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Missense_Mutation_p.G435C|RMRPP1_ENST00000517236.1_RNA|AC022400.2_ENST00000595757.1_5'Flank	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	435					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)					ACCTGGCTTTGGCAATGTGGA	0.552																																																	0													62	66	65					10																	75533542		2203	4300	6503	SO:0001583	missense	0			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.1303G>T	10.37:g.75533542G>T	ENSP00000361932:p.Gly435Cys		Q495W7|Q8IYE4	Missense_Mutation	SNP	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.G435C	ENST00000372841.3	37	c.1303	CCDS7333.1	10	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797695	0.90538	.	.	ENSG00000196968	ENST00000372841;ENST00000394790	T;T	0.49139	1.25;0.79	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69654	0.912;0.965	T	0.71504	-0.4573	10	0.62326	D	0.03	-35.0865	19.786	0.96437	0.0:0.0:1.0:0.0	.	435;435	Q495W5;Q495W5-2	FUT11_HUMAN;.	C	435	ENSP00000361932:G435C;ENSP00000378270:G435C	ENSP00000361932:G435C	G	+	1	0	FUT11	75203548	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.624000	0.98398	2.676000	0.91093	0.563000	0.77884	GGC	FUT11	-	pirsf_Alpha-1_3-FUT_met	ENSG00000196968		0.552	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT11	HGNC	protein_coding	OTTHUMT00000048689.1	-	0	59	0	G	NM_173540		75533542	1	tier1	-	no_errors	ENST00000372841	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	75533542	G	T	75533542	3	4	146	1	0	0	0	0	1	0	0	0	6127	1348	47	3	1309	3	FUT11	10	75533542	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1960984	75533542	60001205	167	37209											
KIAA0913	23053	genome.wustl.edu	37	chr10	75549245	75549245	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagctgtacctgtggggctgGggccaaatggtgcacccacg	7	7	15	12	1	0	0	0	0	0	0	0	0	0	0	3	5	3	4	3	5	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:75549245G>C	ENST00000605216.1	+	4	795	c.578G>C	c.(577-579)gGg>gCg	p.G193A	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G193A|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G193A|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G193A|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.G193A	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	193							zinc ion binding (GO:0008270)										TGTGGGGCTGGGGCCAAATGG	0.607																																																	0													57	69	65					10																	75549245		2188	4281	6469	SO:0001583	missense	0			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.578G>C	10.37:g.75549245G>C	ENSP00000474748:p.Gly193Ala		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.G193A	ENST00000605216.1	37	c.578		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.80|10.80	1.453724|1.453724	0.26161|0.26161	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000446546	T|.	0.39997|.	1.05|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Zinc finger, SWIM-type (1);|.	.|.	.|.	.|.	.|.	T|T	0.36248|0.36248	0.0960|0.0960	N|N	0.02539|0.02539	-0.55|-0.55	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.83275|.	0.996;0.996;0.996|.	T|T	0.36383|0.36383	-0.9750|-0.9750	9|6	0.10902|0.22109	T|T	0.67|0.4	.|.	19.0053|19.0053	0.92848|0.92848	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	193;193;193|.	A7E2V4;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.|.	A|R	193|278	ENSP00000381693:G193A|.	ENSP00000381693:G193A|ENSP00000408406:G278R	G|G	+|+	2|1	0|0	KIAA0913|KIAA0913	75219251|75219251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	9.592000|9.592000	0.98245|0.98245	2.728000|2.728000	0.93425|0.93425	0.655000|0.655000	0.94253|0.94253	GGG|GGG	ZSWIM8	-	pfscan_Znf_SWIM	ENSG00000214655		0.607	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1	-	0	39	0	G	NM_001242487		75549245	1	tier1	-	no_errors	ENST00000398706	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	C	C	75549245	G	C	75549245	3	2	146	1	0	0	0	0	1	0	0	0	8227	1232	43	5	592	5	KIAA0913	10	75549245	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	15703	75549245	59985502	168	37210											
TBC1D12	23232	genome.wustl.edu	37	chr10	96163148	96163148	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccgagaggactaatgggggtGcggagccgcgcctgggcttt	6	7	18	10	4	0	1	0	0	0	1	0	4	0	3	3	5	2	1	3	5	1	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:96163148G>T	ENST00000225235.4	+	1	888	c.778G>T	c.(778-780)Gcg>Tcg	p.A260S		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	260							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)				TAATGGGGGTGCGGAGCCGCG	0.701																																																	0													6	9	8					10																	96163148		1727	3822	5549	SO:0001583	missense	0			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.778G>T	10.37:g.96163148G>T	ENSP00000225235:p.Ala260Ser		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A260S	ENST00000225235.4	37	c.778	CCDS41553.1	10	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232145	0.79688	.	.	ENSG00000108239	ENST00000225235	T	0.06218	3.33	3.63	3.63	0.41609	.	0.390669	0.18763	N	0.131823	T	0.03520	0.0101	N	0.14661	0.345	0.27825	N	0.941671	P	0.46987	0.888	B	0.38985	0.287	T	0.26643	-1.0097	10	0.07325	T	0.83	-6.7312	13.1335	0.59395	0.0:0.0:1.0:0.0	.	260	O60347	TBC12_HUMAN	S	260	ENSP00000225235:A260S	ENSP00000225235:A260S	A	+	1	0	TBC1D12	96153138	.	.	0.595000	0.28798	0.273000	0.26683	.	.	2.022000	0.59522	0.462000	0.41574	GCG	TBC1D12	-	NULL	ENSG00000108239		0.701	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D12	HGNC	protein_coding	OTTHUMT00000049482.2		0	20	0	G			96163148	1			no_errors	ENST00000225235	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.834	T	T	96163148	G	T	96163148	3	4	146	1	0	0	0	0	1	0	0	0	15648	1319	46	3	780	3	TBC1D12	10	96163148	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	20613903	96163148	39371599	169	37211											
LZTS2	84445	genome.wustl.edu	37	chr10	102763685	102763685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcagacagtggccggtcctCctccagcaagagcacaggct	9	6	11	15	1	1	2	1	0	0	2	4	2	4	2	4	3	2	3	4	3	1	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:102763685C>T	ENST00000370220.1	+	2	3893	c.830C>T	c.(829-831)tCc>tTc	p.S277F	LZTS2_ENST00000370223.3_Missense_Mutation_p.S277F					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)		GGCCGGTCCTCCTCCAGCAAG	0.711																																					Esophageal Squamous(8;38 437 13604 19902 37640)												0													25	31	29					10																	102763685		2199	4296	6495	SO:0001583	missense	0			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.830C>T	10.37:g.102763685C>T	ENSP00000359240:p.Ser277Phe			Missense_Mutation	SNP	NULL	p.S277F	ENST00000370220.1	37	c.830	CCDS7507.1	10	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358024	0.61403	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.60548	0.18;0.18	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75243	0.3823	M	0.75085	2.285	0.58432	D	0.999998	D	0.76494	0.999	D	0.66716	0.946	T	0.76321	-0.3002	9	.	.	.	-21.5724	18.2715	0.90070	0.0:1.0:0.0:0.0	.	277	Q9BRK4	LZTS2_HUMAN	F	277	ENSP00000359243:S277F;ENSP00000359240:S277F	.	S	+	2	0	LZTS2	102753675	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.824000	0.62701	2.467000	0.83353	0.561000	0.74099	TCC	LZTS2	-	NULL	ENSG00000107816		0.711	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LZTS2	HGNC	protein_coding	OTTHUMT00000049872.1		0	30	0	C	XM_046743		102763685	1			no_errors	ENST00000370220	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	T	T	102763685	C	T	102763685	3	4	146	1	0	0	0	0	1	0	0	0	9175	855	30	3	836	3	LZTS2	10	102763685	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	6600537	102763685	32771062	170	37212											
GBF1	8729	genome.wustl.edu	37	chr10	104139119	104139119	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggaggagcaacgccacctgGagacaggtggccagaagatt	12	4	15	10	2	0	3	0	0	0	3	0	6	0	5	3	5	2	1	3	5	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:104139119G>C	ENST00000369983.3	+	34	4830	c.4570G>C	c.(4570-4572)Gag>Cag	p.E1524Q		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	1524					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)		ACGCCACCTGGAGACAGGTGG	0.607																																																	0													59	56	57					10																	104139119		2203	4300	6503	SO:0001583	missense	0			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.4570G>C	10.37:g.104139119G>C	ENSP00000359000:p.Glu1524Gln		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.E1524Q	ENST00000369983.3	37	c.4570	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142983	0.37825	.	.	ENSG00000107862	ENST00000369983	T	0.11063	2.81	5.03	3.15	0.36227	.	0.145654	0.64402	N	0.000009	T	0.14614	0.0353	M	0.66439	2.03	0.48511	D	0.999665	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.003	T	0.03773	-1.1005	10	0.35671	T	0.21	-4.5422	15.4209	0.75009	0.0:0.2634:0.7366:0.0	.	1520;1520;1524	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	Q	1524	ENSP00000359000:E1524Q	ENSP00000359000:E1524Q	E	+	1	0	GBF1	104129109	1.000000	0.71417	0.999000	0.59377	0.420000	0.31355	6.527000	0.73803	0.694000	0.31654	-0.218000	0.12543	GAG	GBF1	-	NULL	ENSG00000107862		0.607	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1		0	45	0	G			104139119	1			no_errors	ENST00000369983	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	C	C	104139119	G	C	104139119	3	2	146	1	0	0	0	0	1	0	0	0	6296	1175	41	5	4700	5	GBF1	10	104139119	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1375434	104139119	31395628	171	37213											
PDCD11	22984	genome.wustl.edu	37	chr10	105185131	105185131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccattaagcctacccatgtgGttgtgactctggaagatggc	9	11	11	10	0	1	2	0	1	1	1	1	3	1	3	3	3	2	1	3	3	3	3	rs375454630		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:105185131G>T	ENST00000369797.3	+	20	3248	c.3154G>T	c.(3154-3156)Gtt>Ttt	p.V1052F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1052	S1 motif 9. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TACCCATGTGGTTGTGACTCT	0.512																																																	0													186	142	157					10																	105185131		2203	4300	6503	SO:0001583	missense	0			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.3154G>T	10.37:g.105185131G>T	ENSP00000358812:p.Val1052Phe		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.V1052F	ENST00000369797.3	37	c.3154	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829716	0.71258	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.32272	1.46	6.04	3.92	0.45320	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.342437	0.30118	N	0.010361	T	0.14098	0.0341	N	0.00859	-1.14	0.34095	D	0.661121	D	0.57571	0.98	P	0.56563	0.801	T	0.21586	-1.0241	10	0.46703	T	0.11	-10.2257	0.8224	0.01114	0.1757:0.2355:0.3485:0.2403	.	1052	Q14690	RRP5_HUMAN	F	1052	ENSP00000358812:V1052F	ENSP00000358812:V1052F	V	+	1	0	PDCD11	105175121	0.993000	0.37304	1.000000	0.80357	0.928000	0.56348	1.995000	0.40767	1.502000	0.48669	0.561000	0.74099	GTT	PDCD11	-	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	ENSG00000148843		0.512	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	-	0	41	0	G			105185131	1	tier1	-	no_errors	ENST00000369797	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.972	T	T	105185131	G	T	105185131	3	4	146	1	0	0	0	0	1	0	0	0	11656	1261	44	3	3228	3	PDCD11	10	105185131	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1046012	105185131	30349616	172	37214											
DMBT1	1755	genome.wustl.edu	37	chr10	124390762	124390762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctggttctcccacaactGtaatcatcgtgaagatgctg	10	11	10	10	1	2	2	1	1	1	1	4	2	2	2	1	2	2	4	1	2	3	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr10:124390762G>T	ENST00000338354.3	+	46	6030	c.5924G>T	c.(5923-5925)tGt>tTt	p.C1975F	DMBT1_ENST00000368955.3_Missense_Mutation_p.C1965F|DMBT1_ENST00000368909.3_Missense_Mutation_p.C1975F|DMBT1_ENST00000344338.3_Missense_Mutation_p.C1965F|DMBT1_ENST00000368956.2_Missense_Mutation_p.C1347F|DMBT1_ENST00000330163.4_Missense_Mutation_p.C1347F|DMBT1_ENST00000359586.6_Missense_Mutation_p.C695F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1975	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.C1975Y(1)		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)				TCCCACAACTGTAATCATCGT	0.547																																					Ovarian(182;93 2026 18125 22222 38972)												1	Substitution - Missense(1)	prostate(1)											149	145	146					10																	124390762		2057	4203	6260	SO:0001583	missense	0				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.5924G>T	10.37:g.124390762G>T	ENSP00000342210:p.Cys1975Phe		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.C1975F	ENST00000338354.3	37	c.5924		10	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559487	0.65538	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.56	5.56	0.83823	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.79581	0.4470	H	0.95645	3.7	0.58432	D	0.999997	D;D;D;D;D;D;P	0.89917	1.0;0.999;1.0;0.999;1.0;0.997;0.937	D;D;D;D;D;D;P	0.97110	1.0;0.999;1.0;0.994;0.975;0.991;0.89	D	0.85227	0.1030	9	0.66056	D	0.02	.	19.6051	0.95577	0.0:0.0:1.0:0.0	.	695;1955;1224;2104;1347;1965;1975	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	F	1975;2104;1975;1975;1975;1975;1347;1965;1347;1347;1975;1965;1347;121;695	ENSP00000342210:C1975F;ENSP00000343175:C1965F;ENSP00000327747:C1347F;ENSP00000357905:C1975F;ENSP00000357951:C1965F;ENSP00000357952:C1347F;ENSP00000352593:C695F	ENSP00000331522:C1347F	C	+	2	0	DMBT1	124380752	1.000000	0.71417	0.088000	0.20740	0.368000	0.29767	9.508000	0.98000	2.619000	0.88677	0.650000	0.86243	TGT	DMBT1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000187908		0.547	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2		0	28	0	G	NM_004406		124390762	1			no_errors	ENST00000338354	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	124390762	G	T	124390762	3	4	146	1	0	0	0	0	1	0	0	0	4591	1377	48	3	6106	3	DMBT1	10	124390762	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	19205631	124390762	11143985	173	37215											
MUC5B	727897	genome.wustl.edu	37	chr11	1263696	1263696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaagaacgaagaccaGacaggcaggttcaacatgtg	15	5	11	10	1	1	3	1	0	0	3	1	4	1	3	2	2	3	3	2	2	4	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:1263696G>T	ENST00000529681.1	+	31	5644	c.5586G>T	c.(5584-5586)caG>caT	p.Q1862H	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.Q1865H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1862	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)		ACGAAGACCAGACAGGCAGGT	0.612																																																	0													58	76	70					11																	1263696		2183	4276	6459	SO:0001583	missense	0			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.5586G>T	11.37:g.1263696G>T	ENSP00000436812:p.Gln1862His		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.Q1865H	ENST00000529681.1	37	c.5595	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	8.983	0.975932	0.18736	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.23348	1.91;1.91	4.65	1.56	0.23342	.	.	.	.	.	T	0.54224	0.1845	H	0.95151	3.63	0.23120	N	0.99826	D;D	0.63046	0.992;0.992	P;P	0.59357	0.856;0.856	T	0.46091	-0.9216	9	0.87932	D	0	.	7.4711	0.27349	0.1588:0.1356:0.7056:0.0	.	2555;1865	A7Y9J9;E9PBJ0	.;.	H	1862;1865;1863;1932	ENSP00000436812:Q1862H;ENSP00000415793:Q1865H	ENSP00000343037:Q1863H	Q	+	3	2	MUC5B	1220272	0.284000	0.24287	0.267000	0.24556	0.321000	0.28281	0.340000	0.19892	0.366000	0.24427	0.313000	0.20887	CAG	MUC5B	-	NULL	ENSG00000117983		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	47	0	G	XM_001126093		1263696	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.510	T	T	1263696	G	T	1263696	3	4	146	1	0	0	0	0	1	0	0	0	10017	933	33	3	5717	3	MUC5B	11	1263696	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09		1263696	133742820	174	37216											
OR51G1	79324	genome.wustl.edu	37	chr11	4944886	4944886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctggtgggaggcaatgctGagcacggtgcgaaggatgag	9	7	18	7	2	0	2	0	2	0	0	1	5	1	4	1	5	3	3	1	5	2	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:4944886G>A	ENST00000321961.2	-	1	751	c.684C>T	c.(682-684)ctC>ctT	p.L228L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, 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)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCAATGCTGAGCACGGTGC	0.542																																																	0													129	102	111					11																	4944886		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.684C>T	11.37:g.4944886G>A			B9EGW8|Q6IFH6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L228	ENST00000321961.2	37	c.684	CCDS31366.1	11																																																																																			OR51G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176879		0.542	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	HGNC	protein_coding	OTTHUMT00000142345.1	-	0	27	0	G	NM_001005237		4944886	-1	tier1	-	no_errors	ENST00000321961	ensembl	human	known	74_37	silent	28.00	18	7	SNP	0.000	A	A	4944886	G	A	4944886	2	1	146	1	0	0	0	0	0	0	0	1	11137	1277	45	3		3	OR51G1	11	4944886	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	3681190	4944886	130061630	175	37217											
OR52E2	119678	genome.wustl.edu	37	chr11	5080750	5080750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctatgagtgcgatcatgtaCacagcacagaagggaaagcc	14	6	11	10	1	1	2	1	1	0	1	1	4	1	3	2	1	4	2	2	1	4	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:5080750C>T	ENST00000321522.2	-	1	107	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	36						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)		CGATCATGTACACAGCACAGA	0.507																																																	0													122	108	113					11																	5080750		2201	4298	6499	SO:0001819	synonymous_variant	0			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.108G>A	11.37:g.5080750C>T				Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V36	ENST00000321522.2	37	c.108	CCDS31371.1	11																																																																																			OR52E2	-	prints_GPCR_Rhodpsn	ENSG00000176787		0.507	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E2	HGNC	protein_coding	OTTHUMT00000142815.1	-	0	44	0	C	NM_001005164		5080750	-1	tier1	-	no_errors	ENST00000321522	ensembl	human	known	74_37	silent	15.38	44	8	SNP	0.988	T	T	5080750	C	T	5080750	2	4	146	1	0	0	0	0	0	0	0	1	11154	465	17	3		3	OR52E2	11	5080750	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	135864	5080750	129925766	176	37218											
OR52A4	390053	genome.wustl.edu	37	chr11	5142536	5142536	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaatatatctctggcaaatgGaaccaaaaaatatcaagcat	20	9	5	7	0	2	0	1	0	1	0	3	1	2	1	1	2	2	2	1	2	10	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:5142536G>A	ENST00000498233.1	-	0	862							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTGGCAAATGGAACCAAAAAA	0.463																																																	0													55	52	53					11																	5142536		2201	4298	6499			0					11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"GPCR / Class A : Olfactory receptors"	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142536G>A				RNA	SNP	-	NULL	ENST00000498233.1	37	NULL		11																																																																																			OR52A4	-	-	ENSG00000205494		0.463	OR52A4-002	KNOWN	basic	processed_transcript	OR52A4	HGNC	pseudogene	OTTHUMT00000268565.1	-	0	31	0	G	NG_029079		5142536	-1	tier1	-	no_errors	ENST00000481634	ensembl	human	known	74_37	rna	17.65	14	3	SNP	0.000	A	A	5142536	G	A	5142536	1	1	146	0	1	0	0	0	0	0	0	0	11148	1165	41	3		3	OR52A4	11	5142536	RNA	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	61786	5142536	129863980	177	37219											
HBG2	3048	genome.wustl.edu	37	chr11	5275627	5275627	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttatggcatctcccaaggaAgtcagcaccttcttgccatg	9	12	8	12	0	3	0	1	0	2	0	4	1	3	1	3	2	2	2	3	2	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:5275627A>C	ENST00000380259.2	-	7	1450	c.210T>G	c.(208-210)acT>acG	p.T70T	HBG2_ENST00000380252.1_Silent_p.T60T|HBG2_ENST00000336906.4_Silent_p.T70T			P69892	HBG2_HUMAN	hemoglobin, gamma G	70					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCAAGGAAGTCAGCACCT	0.532																																																	0													314	243	267					11																	5275627		2201	4298	6499	SO:0001819	synonymous_variant	0			BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.210T>G	11.37:g.5275627A>C			A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Silent	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.T70	ENST00000380259.2	37	c.210	CCDS7755.1	11																																																																																			HBG2	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Myoglobin	ENSG00000196565		0.532	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBG2	HGNC	protein_coding	OTTHUMT00000142967.2	-	0	151	0	A	NM_000184		5275627	-1	tier1	-	no_errors	ENST00000336906	ensembl	human	known	74_37	silent	10.91	147	18	SNP	0.000	C	C	5275627	A	C	5275627	2	2	146	1	0	0	0	0	0	0	0	1	7010	59	3	4		4	HBG2	11	5275627	Silent	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	133091	5275627	129730889	178	37220											
TPP1	1200	genome.wustl.edu	37	chr11	6638054	6638054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaagaggcgcatgaactGagccaggtctgagtcatgga	12	6	14	9	2	2	4	1	3	1	1	2	6	2	5	2	3	2	1	2	3	2	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:6638054G>T	ENST00000299427.6	-	7	784	c.724C>A	c.(724-726)Cag>Aag	p.Q242K	TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|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)	CGCATGAACTGAGCCAGGTCT	0.587																																																	0													99	99	99					11																	6638054		2201	4296	6497	SO:0001583	missense	0			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.724C>A	11.37:g.6638054G>T	ENSP00000299427:p.Gln242Lys		Q71V64	Missense_Mutation	SNP	pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	p.Q242K	ENST00000299427.6	37	c.724	CCDS7770.1	11	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477986	0.26511	.	.	ENSG00000166340	ENST00000299427	D	0.98996	-5.31	4.48	1.52	0.23074	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.162895	0.53938	N	0.000059	D	0.94248	0.8153	N	0.16478	0.41	0.80722	D	1	B	0.22414	0.069	B	0.12156	0.007	D	0.88254	0.2918	10	0.08599	T	0.76	-12.1596	6.1193	0.20144	0.0:0.6582:0.16:0.1819	.	242	O14773	TPP1_HUMAN	K	242	ENSP00000299427:Q242K	ENSP00000299427:Q242K	Q	-	1	0	TPP1	6594630	0.766000	0.28496	0.953000	0.39169	0.917000	0.54804	1.464000	0.35288	0.346000	0.23899	-0.565000	0.04167	CAG	TPP1	-	superfamily_Peptidase_S8/S53_dom	ENSG00000166340		0.587	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP1	HGNC	protein_coding	OTTHUMT00000257261.2	-	0	61	0	G			6638054	-1	tier1	-	no_errors	ENST00000299427	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.961	T	T	6638054	G	T	6638054	3	4	146	1	0	0	0	0	1	0	0	0	16459	1299	45	3	995	3	TPP1	11	6638054	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1362427	6638054	128368462	179	37221											
ABCC8	6833	genome.wustl.edu	37	chr11	17426153	17426153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aggtgtgacataggagatgaCggccagggctgagacacaga	13	5	16	7	1	0	5	0	3	0	3	0	7	0	5	1	4	0	1	1	4	1	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:17426153C>T	ENST00000389817.3	-	28	3531	c.3463G>A	c.(3463-3465)Gtc>Atc	p.V1155I	ABCC8_ENST00000302539.4_Missense_Mutation_p.V1156I			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1155	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	p.V1155I(1)		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)	TAGGAGATGACGGCCAGGGCT	0.597																																																	1	Substitution - Missense(1)	large_intestine(1)											97	66	76					11																	17426153		2200	4293	6493	SO:0001583	missense	0			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.3463G>A	11.37:g.17426153C>T	ENSP00000374467:p.Val1155Ile		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V1156I	ENST00000389817.3	37	c.3466	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	18.59	3.655879	0.67586	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.90197	-2.63;-2.63	5.32	5.32	0.75619	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	0.89972	0.6870	L	0.58583	1.82	0.80722	D	1	B	0.24092	0.097	B	0.27262	0.078	D	0.87259	0.2278	10	0.52906	T	0.07	.	19.0064	0.92852	0.0:1.0:0.0:0.0	.	1155	Q09428	ABCC8_HUMAN	I	1155;1156	ENSP00000374467:V1155I;ENSP00000303960:V1156I	ENSP00000303960:V1156I	V	-	1	0	ABCC8	17382729	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.805000	0.86005	2.477000	0.83638	0.514000	0.50259	GTC	ABCC8	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000006071		0.597	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0	40	0	C	NM_000352		17426153	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	17426153	C	T	17426153	3	4	146	1	0	0	0	0	1	0	0	0	58	536	19	1	1330	1	ABCC8	11	17426153	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	10788099	17426153	117580363	180	37222											
TPH1	7166	genome.wustl.edu	37	chr11	18057536	18057536	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagtaaaattatctggtaGattcacagagagaacattgg	17	10	9	5	0	2	3	1	0	1	3	2	4	2	3	0	2	1	2	0	2	6	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:18057536G>C	ENST00000250018.2	-	2	833	c.271C>G	c.(271-273)Cta>Gta	p.L91V	TPH1_ENST00000341556.2_Missense_Mutation_p.L91V	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	91	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.			NL -> TP (in Ref. 2; AAA67050). {ECO:0000305}.	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)	TTATCTGGTAGATTCACAGAG	0.328																																																	0													80	80	80					11																	18057536		2200	4293	6493	SO:0001583	missense	0			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.271C>G	11.37:g.18057536G>C	ENSP00000250018:p.Leu91Val		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.L91V	ENST00000250018.2	37	c.271	CCDS7829.1	11	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418252	0.25552	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99716	-6.12;-6.13;-6.51	5.51	1.28	0.21552	.	0.316417	0.39210	N	0.001437	D	0.96839	0.8968	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.06405	0.002	D	0.94909	0.8063	10	0.15499	T	0.54	-8.0E-4	7.1395	0.25548	0.1384:0.0:0.607:0.2546	.	91	P17752	TPH1_HUMAN	V	91;91;101	ENSP00000250018:L91V;ENSP00000343550:L91V;ENSP00000436081:L101V	ENSP00000250018:L91V	L	-	1	2	TPH1	18014112	1.000000	0.71417	0.966000	0.40874	0.973000	0.67179	2.909000	0.48758	0.309000	0.22966	0.655000	0.94253	CTA	TPH1	-	pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase	ENSG00000129167		0.328	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH1	HGNC	protein_coding	OTTHUMT00000389696.1	-	0	31	0	G	NM_004179		18057536	-1	tier1	-	no_errors	ENST00000341556	ensembl	human	known	74_37	missense	16.95	49	10	SNP	1.000	C	C	18057536	G	C	18057536	3	2	146	1	0	0	0	0	1	0	0	0	16449	933	33	5	1099	5	TPH1	11	18057536	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	631383	18057536	116948980	181	37223											
SLC6A5	9152	genome.wustl.edu	37	chr11	20649547	20649547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaagatgctgccactCagattttcttctctttatct	8	17	7	9	0	4	2	1	0	3	2	5	3	4	3	1	1	2	1	1	1	2	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:20649547C>A	ENST00000525748.1	+	9	1690	c.1417C>A	c.(1417-1419)Cag>Aag	p.Q473K		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	473					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.Q473E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCTGCCACTCAGATTTTCTT	0.493																																																	1	Substitution - Missense(1)	skin(1)											125	113	117					11																	20649547		2203	4300	6503	SO:0001583	missense	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1417C>A	11.37:g.20649547C>A	ENSP00000434364:p.Gln473Lys		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.Q473K	ENST00000525748.1	37	c.1417	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.357086	0.95854	.	.	ENSG00000165970	ENST00000525748	D	0.81579	-1.51	5.65	5.65	0.86999	.	0.052295	0.85682	D	0.000000	D	0.94155	0.8125	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95666	0.8719	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	473	Q9Y345	SC6A5_HUMAN	K	473	ENSP00000434364:Q473K	ENSP00000434364:Q473K	Q	+	1	0	SLC6A5	20606123	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	CAG	SLC6A5	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000165970		0.493	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2		0	28	0	C	NM_004211		20649547	1			no_errors	ENST00000525748	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	A	A	20649547	C	A	20649547	3	1	146	1	0	0	0	0	1	0	0	0	14732	827	29	3	1451	3	SLC6A5	11	20649547	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	2592011	20649547	114356969	182	37224											
ANO3	63982	genome.wustl.edu	37	chr11	26619955	26619955	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaggagaaggagtatactGacctatacttgggaccttat	15	10	10	6	0	0	2	0	1	0	1	0	5	0	4	2	3	2	1	2	3	8	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:26619955G>C	ENST00000256737.3	+	15	2343	c.1491G>C	c.(1489-1491)ctG>ctC	p.L497L	ANO3_ENST00000531568.1_Silent_p.L351L|ANO3_ENST00000525139.1_Silent_p.L481L|ANO3_ENST00000537978.1_Silent_p.L481L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	497					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						GGAGTATACTGACCTATACTT	0.363																																																	0													126	124	125					11																	26619955		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1491G>C	11.37:g.26619955G>C			B7Z3F5	Silent	SNP	pfam_Anoctamin	p.L497	ENST00000256737.3	37	c.1491	CCDS31447.1	11																																																																																			ANO3	-	pfam_Anoctamin	ENSG00000134343		0.363	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	-	0	50	0	G	NM_031418		26619955	1	tier1	-	no_errors	ENST00000256737	ensembl	human	known	74_37	silent	12.50	77	11	SNP	0.950	C	C	26619955	G	C	26619955	2	2	146	1	0	0	0	0	0	0	0	1	698	1277	45	5		5	ANO3	11	26619955	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	5970408	26619955	108386561	183	37225											
DCDC1	341019	genome.wustl.edu	37	chr11	31329280	31329280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgatttgtagctatctaGgtctgatatttcatcatggc	8	18	9	6	0	4	2	2	2	2	0	4	2	4	2	0	2	1	3	0	2	4	7			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:31329280G>C	ENST00000452803.1	-	4	541	c.340C>G	c.(340-342)Cta>Gta	p.L114V	DCDC1_ENST00000597505.1_Missense_Mutation_p.L114V|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	114					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TAGCTATCTAGGTCTGATATT	0.428																																																	0													318	293	301					11																	31329280		2202	4299	6501	SO:0001583	missense	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.340C>G	11.37:g.31329280G>C	ENSP00000389792:p.Leu114Val		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	pfscan_Doublecortin_dom	p.L114V	ENST00000452803.1	37	c.340	CCDS7872.1	11	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545294	0.27652	.	.	ENSG00000188682	ENST00000452803	T	0.32988	1.43	5.7	5.7	0.88788	.	0.975889	0.08353	N	0.958975	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	0.999999	B	0.19583	0.037	B	0.18561	0.022	T	0.15867	-1.0422	10	0.05833	T	0.94	.	11.2459	0.48996	0.0:0.2411:0.6305:0.1284	.	114	P59894	DCDC1_HUMAN	V	114	ENSP00000389792:L114V	ENSP00000343496:L114V	L	-	1	2	DCDC1	31285856	0.017000	0.18338	0.945000	0.38365	0.965000	0.64279	0.340000	0.19892	2.683000	0.91414	0.650000	0.86243	CTA	DCDC1	-	NULL	ENSG00000170959		0.428	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000316531.1	-	0	35	0	G	NM_181807		31329280	-1	tier1	-	no_errors	ENST00000452803	ensembl	human	known	74_37	missense	15.25	50	9	SNP	0.478	C	C	31329280	G	C	31329280	3	2	146	1	0	0	0	0	1	0	0	0	4293	991	35	5	748	5	DCDC1	11	31329280	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	4709325	31329280	103677236	184	37226											
DGKZ	8525	genome.wustl.edu	37	chr11	46392886	46392886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttccagcagaagttcaccttCcacagcaaggagattgtggc	11	9	10	11	0	1	2	1	0	0	2	3	3	3	2	3	2	2	3	3	2	2	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:46392886C>G	ENST00000454345.1	+	8	1283	c.1158C>G	c.(1156-1158)ttC>ttG	p.F386L	DGKZ_ENST00000395574.3_Missense_Mutation_p.F164L|DGKZ_ENST00000456247.2_Missense_Mutation_p.F197L|DGKZ_ENST00000527911.1_Missense_Mutation_p.F198L|DGKZ_ENST00000421244.2_Missense_Mutation_p.F198L|DGKZ_ENST00000343674.6_Missense_Mutation_p.F214L|DGKZ_ENST00000318201.8_Missense_Mutation_p.F175L|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000532868.2_Missense_Mutation_p.F202L|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	386					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)		AGTTCACCTTCCACAGCAAGG	0.642																																																	0													92	92	92					11																	46392886		2202	4299	6501	SO:0001583	missense	0			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.1158C>G	11.37:g.46392886C>G	ENSP00000412178:p.Phe386Leu		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F386L	ENST00000454345.1	37	c.1158	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185638	0.78789	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345;ENST00000524448	D;D;D;D;D;D;T;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;2.6;-3.13;-3.13	4.75	2.87	0.33458	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	D	0.94801	0.8321	M	0.80982	2.52	0.80722	D	1	D;D;P;D;D;D;D;D;D	0.71674	0.974;0.998;0.876;0.972;0.972;0.966;0.966;0.972;0.998	P;D;P;D;D;D;P;D;D	0.70227	0.878;0.967;0.561;0.912;0.968;0.911;0.857;0.912;0.967	D	0.93338	0.6707	10	0.66056	D	0.02	.	7.8995	0.29725	0.0:0.6848:0.0:0.3152	.	175;163;141;198;386;197;198;164;214	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	L	214;164;163;198;197;198;175;386;82	ENSP00000343065:F214L;ENSP00000378941:F164L;ENSP00000436273:F163L;ENSP00000436291:F198L;ENSP00000395684:F197L;ENSP00000391021:F198L;ENSP00000320340:F175L;ENSP00000412178:F386L;ENSP00000435763:F82L	ENSP00000320340:F175L	F	+	3	2	DGKZ	46349462	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.504000	0.22626	0.538000	0.28769	0.561000	0.74099	TTC	DGKZ	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000149091		0.642	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	-	0	67	0	C	NM_001105540		46392886	1	tier1	-	no_errors	ENST00000454345	ensembl	human	known	74_37	missense	11.48	107	14	SNP	1.000	G	G	46392886	C	G	46392886	3	3	146	1	0	0	0	0	1	0	0	0	4488	854	30	5	1631	5	DGKZ	11	46392886	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	15063606	46392886	88613630	185	37227											
PTPRJ	5795	genome.wustl.edu	37	chr11	48149344	48149344	+	Frame_Shift_Del	DEL	T	T	-																															tctcacagatgctattcaggTttttgacgtcaccgctgtga																										TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:48149344delT	ENST00000418331.2	+	7	1458	c.1106delT	c.(1105-1107)gttfs	p.V369fs	PTPRJ_ENST00000440289.2_Frame_Shift_Del_p.V369fs	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	369	Fibronectin type-III 4. {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						GCTATTCAGGTTTTTGACGTC	0.493																																																	0													94	85	88					11																	48149344		2201	4298	6499	SO:0001589	frameshift_variant	0			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.1106delT	11.37:g.48149344delT	ENSP00000400010:p.Val369fs		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Frame_Shift_Del	DEL	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.F370fs	ENST00000418331.2	37	c.1106	CCDS7945.1	11																																																																																			PTPRJ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149177		0.493	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1		0	33	0	T			48149344	1	tier1		no_errors	ENST00000418331	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.051	-	-	48149344	T	-	48149344	7	5	146	1	0	1	0	1	0	0	0	0	12849	1725	60	0	1132	0	PTPRJ	11	48149344	Frame_Shift_Del	DEL	T	TCGA-R6-A6Y0-01B-11D-A33E-09	1756458	48149344	86857172	186	37228											
OR10AG1	282770	genome.wustl.edu	37	chr11	55735082	55735082	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaatgccaccatgatatcTttgttcctcagggtatatat	10	15	6	10	0	3	1	2	1	1	0	4	1	4	1	3	1	1	2	3	1	5	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:55735082T>G	ENST00000312345.2	-	1	908	c.858A>C	c.(856-858)aaA>aaC	p.K286N		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CCATGATATCTTTGTTCCTCA	0.338																																																	0													55	61	59					11																	55735082		2201	4296	6497	SO:0001583	missense	0			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.858A>C	11.37:g.55735082T>G	ENSP00000311477:p.Lys286Asn		B2RNH4|Q6IEU3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K286N	ENST00000312345.2	37	c.858	CCDS31514.1	11	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811730	0.50527	.	.	ENSG00000174970	ENST00000312345	T	0.45668	0.89	5.08	-0.168	0.13343	.	0.331554	0.26010	N	0.026892	T	0.60702	0.2289	M	0.85630	2.765	0.30706	N	0.74978	D	0.71674	0.998	D	0.67231	0.95	T	0.62798	-0.6778	10	0.54805	T	0.06	.	9.7886	0.40692	0.0:0.5592:0.0:0.4408	.	286	Q8NH19	O10AG_HUMAN	N	286	ENSP00000311477:K286N	ENSP00000311477:K286N	K	-	3	2	OR10AG1	55491658	0.913000	0.31002	0.941000	0.38009	0.689000	0.40095	-0.136000	0.10405	0.032000	0.15435	0.386000	0.25728	AAA	OR10AG1	-	prints_GPCR_Rhodpsn	ENSG00000174970		0.338	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1	-	0	33	0	T	NM_001005491		55735082	-1	tier1	-	no_errors	ENST00000312345	ensembl	human	known	74_37	missense	10.59	76	9	SNP	0.999	G	G	55735082	T	G	55735082	3	3	146	1	0	0	0	0	1	0	0	0	10936	1606	56	4	50	4	OR10AG1	11	55735082	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	7585738	55735082	79271434	187	37229											
OR5M3	219482	genome.wustl.edu	37	chr11	56237478	56237478	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctcaatttttccacagaAgtacaagccgtaagtccata	14	11	6	10	1	1	1	1	0	1	1	4	2	3	1	3	0	2	2	3	0	6	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:56237478A>C	ENST00000312240.2	-	1	536	c.496T>G	c.(496-498)Ttc>Gtc	p.F166V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F166V(1)		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)					TTTCCACAGAAGTACAAGCCG	0.393																																																	1	Substitution - Missense(1)	large_intestine(1)											109	98	102					11																	56237478		2201	4295	6496	SO:0001583	missense	0			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.496T>G	11.37:g.56237478A>C	ENSP00000312208:p.Phe166Val		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F166V	ENST00000312240.2	37	c.496	CCDS31532.1	11	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231911	0.58777	.	.	ENSG00000174937	ENST00000312240	T	0.00145	8.67	5.22	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.00552	0.0018	H	0.94886	3.595	0.25362	N	0.988772	D	0.89917	1.0	D	0.97110	1.0	T	0.40117	-0.9580	10	0.87932	D	0	-21.1363	5.1044	0.14775	0.7543:0.0:0.0867:0.159	.	166	Q8NGP4	OR5M3_HUMAN	V	166	ENSP00000312208:F166V	ENSP00000312208:F166V	F	-	1	0	OR5M3	55994054	0.149000	0.22717	0.996000	0.52242	0.777000	0.43975	0.830000	0.27462	0.284000	0.22305	0.448000	0.29417	TTC	OR5M3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174937		0.393	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	HGNC	protein_coding	OTTHUMT00000391639.1	-	0	64	0	A	NM_001004742		56237478	-1	tier1	-	no_errors	ENST00000312240	ensembl	human	known	74_37	missense	14.47	65	11	SNP	0.962	C	C	56237478	A	C	56237478	3	2	146	1	0	0	0	0	1	0	0	0	11214	72	3	4	429	4	OR5M3	11	56237478	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	502396	56237478	78769038	188	37230											
MS4A2	2206	genome.wustl.edu	37	chr11	59856281	59856281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	gagcaaatcttgctctcccaCaggagccttccaggtaggta	10	9	10	12	0	2	0	0	0	2	0	4	2	3	1	3	3	3	4	3	3	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:59856281C>G	ENST00000278888.3	+	1	145	c.43C>G	c.(43-45)Cag>Gag	p.Q15E		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	15					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGCTCTCCCACAGGAGCCTTC	0.408																																																	0													64	66	65					11																	59856281		2201	4295	6496	SO:0001583	missense	0			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"	147138	"IgE responsiveness (atopic)", "membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.43C>G	11.37:g.59856281C>G	ENSP00000278888:p.Gln15Glu		Q54A81	Missense_Mutation	SNP	pfam_CD20-like	p.Q15E	ENST00000278888.3	37	c.43	CCDS7980.1	11	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.359939	0.01245	.	.	ENSG00000149534	ENST00000524868;ENST00000278888	D;T	0.84442	-1.85;2.08	4.48	1.43	0.22495	.	1.889150	0.02092	N	0.053247	T	0.79885	0.4523	L	0.32530	0.975	0.09310	N	1	B	0.24043	0.096	B	0.18263	0.021	T	0.60850	-0.7181	10	0.22109	T	0.4	-3.1905	12.2337	0.54503	0.0:0.4839:0.5161:0.0	.	15	Q01362	FCERB_HUMAN	E	15	ENSP00000433311:Q15E;ENSP00000278888:Q15E	ENSP00000278888:Q15E	Q	+	1	0	MS4A2	59612857	0.028000	0.19301	0.169000	0.22859	0.014000	0.08584	0.544000	0.23253	0.345000	0.23873	-0.182000	0.12963	CAG	MS4A2	-	NULL	ENSG00000149534		0.408	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A2	HGNC	protein_coding	OTTHUMT00000393844.1	-	0	36	0	C			59856281	1	tier1	-	no_errors	ENST00000278888	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.198	G	G	59856281	C	G	59856281	3	3	146	1	0	0	0	0	1	0	0	0	9898	479	17	5	45	5	MS4A2	11	59856281	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	3618803	59856281	75150235	189	37231											
HNRNPUL2	221092	genome.wustl.edu	37	chr11	62491164	62491164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtggctgccctccatagcgGtctttgctcacttgaaaatg	8	12	10	11	1	2	1	1	1	1	0	3	1	3	1	2	2	3	2	2	2	3	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:62491164G>T	ENST00000301785.5	-	4	978	c.786C>A	c.(784-786)gaC>gaA	p.D262E	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.D262E	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	262	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTCCATAGCGGTCTTTGCTCA	0.468																																																	0													81	78	79					11																	62491164		1867	4104	5971	SO:0001583	missense	0				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.786C>A	11.37:g.62491164G>T	ENSP00000301785:p.Asp262Glu		Q8N3B3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.D262E	ENST00000301785.5	37	c.786	CCDS41659.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519753	0.85495	.	.	ENSG00000214753	ENST00000301785	T	0.78924	-1.22	5.09	4.18	0.49190	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.054264	0.64402	D	0.000001	T	0.72598	0.3480	L	0.54323	1.7	0.47276	D	0.999376	P	0.42692	0.787	B	0.40134	0.32	T	0.75077	-0.3445	10	0.62326	D	0.03	-21.9767	11.1994	0.48733	0.0881:0.0:0.9119:0.0	.	262	Q1KMD3	HNRL2_HUMAN	E	262	ENSP00000301785:D262E	ENSP00000301785:D262E	D	-	3	2	HNRNPUL2	62247740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.929000	0.56514	1.392000	0.46585	0.655000	0.94253	GAC	HNRNPUL2	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000214753		0.468	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL2	HGNC	protein_coding	OTTHUMT00000396208.2	-	0	39	0	G	XM_495877		62491164	-1	tier1	-	no_errors	ENST00000301785	ensembl	human	known	74_37	missense	14.29	48	8	SNP	1.000	T	T	62491164	G	T	62491164	3	4	146	1	0	0	0	0	1	0	0	0	7302	1252	44	3	1501	3	HNRNPUL2	11	62491164	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	2634883	62491164	72515352	190	37232											
NPAS4	266743	genome.wustl.edu	37	chr11	66191995	66191995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaagcacacctggacagccCcagccaaaccttcccagagc	12	3	7	19	0	0	1	0	0	0	1	1	2	1	2	7	1	5	1	7	1	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:66191995C>A	ENST00000311034.2	+	7	1810	c.1634C>A	c.(1633-1635)cCc>cAc	p.P545H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	545					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						CTGGACAGCCCCAGCCAAACC	0.582																																																	0													120	129	126					11																	66191995		2200	4295	6495	SO:0001583	missense	0			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.1634C>A	11.37:g.66191995C>A	ENSP00000311196:p.Pro545His		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.P545H	ENST00000311034.2	37	c.1634	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381057	0.42207	.	.	ENSG00000174576	ENST00000311034	T	0.23950	1.88	4.69	4.69	0.59074	.	0.115412	0.39834	N	0.001249	T	0.29684	0.0741	N	0.14661	0.345	0.30535	N	0.766992	D	0.69078	0.997	P	0.59012	0.85	T	0.15665	-1.0429	10	0.66056	D	0.02	-12.1373	15.1587	0.72764	0.0:1.0:0.0:0.0	.	545	Q8IUM7	NPAS4_HUMAN	H	545	ENSP00000311196:P545H	ENSP00000311196:P545H	P	+	2	0	NPAS4	65948571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.317000	0.59184	2.443000	0.82685	0.655000	0.94253	CCC	NPAS4	-	NULL	ENSG00000174576		0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1		0	9	0	C	NM_178864		66191995	1			no_errors	ENST00000311034	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	66191995	C	A	66191995	3	1	146	1	0	0	0	0	1	0	0	0	10604	623	22	3	1660	3	NPAS4	11	66191995	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	3700831	66191995	68814521	191	37233											
KDM2A	22992	genome.wustl.edu	37	chr11	66999063	66999063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttaaatgggttggagtctGggaatggggatgaggaagca	12	9	18	2	0	1	1	0	1	1	0	1	5	1	5	0	6	1	3	0	6	4	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:66999063G>T	ENST00000529006.2	+	12	1557	c.1111G>T	c.(1111-1113)Ggg>Tgg	p.G371W	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.G371W	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	371					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						GTTGGAGTCTGGGAATGGGGA	0.473																																																	0													83	74	77					11																	66999063		1913	4134	6047	SO:0001583	missense	0			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.1111G>T	11.37:g.66999063G>T	ENSP00000432786:p.Gly371Trp		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.G371W	ENST00000529006.2	37	c.1111	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837430	0.71373	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.36340	1.26;1.26	5.59	5.59	0.84812	.	0.875918	0.10001	N	0.728456	T	0.34600	0.0903	N	0.08118	0	0.80722	D	1	D	0.59767	0.986	P	0.52627	0.704	T	0.28808	-1.0032	10	0.37606	T	0.19	-13.3654	17.1157	0.86688	0.0:0.0:1.0:0.0	.	371	Q9Y2K7	KDM2A_HUMAN	W	371	ENSP00000381640:G371W;ENSP00000432786:G371W	ENSP00000381640:G371W	G	+	1	0	KDM2A	66755639	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.024000	0.64090	2.783000	0.95769	0.655000	0.94253	GGG	KDM2A	-	NULL	ENSG00000173120		0.473	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	-	0	60	0	G	NM_012308		66999063	1	tier1	-	no_errors	ENST00000529006	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	66999063	G	T	66999063	3	4	146	1	0	0	0	0	1	0	0	0	8151	1348	47	3	1153	3	KDM2A	11	66999063	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	807068	66999063	68007453	192	37234											
ME3	10873	genome.wustl.edu	37	chr11	86152470	86152470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agccaggttgtgtttgtacgCgtagtcgagaacctagagaa	11	10	13	7	3	0	2	0	0	0	2	1	4	0	2	2	1	3	4	2	1	5	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:86152470C>T	ENST00000393324.3	-	14	1919	c.1666G>A	c.(1666-1668)Gcg>Acg	p.A556T	ME3_ENST00000359636.2_Missense_Mutation_p.A556T|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.A556T	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	556					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				TGTTTGTACGCGTAGTCGAGA	0.488																																																	0													179	168	172					11																	86152470		2202	4299	6501	SO:0001583	missense	0			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1666G>A	11.37:g.86152470C>T	ENSP00000376998:p.Ala556Thr		B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.A556T	ENST00000393324.3	37	c.1666	CCDS8277.1	11	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263446	0.80358	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	4.44	4.44	0.53790	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	H	0.96333	3.805	0.80722	D	1	P	0.39094	0.659	B	0.38106	0.265	T	0.80086	-0.1529	9	.	.	.	-20.8153	17.6259	0.88093	0.0:1.0:0.0:0.0	.	556	Q16798	MAON_HUMAN	T	556	ENSP00000352657:A556T;ENSP00000440246:A556T;ENSP00000376998:A556T;ENSP00000431182:A556T	.	A	-	1	0	ME3	85830118	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.410000	0.80065	2.435000	0.82474	0.655000	0.94253	GCG	ME3	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd	ENSG00000151376		0.488	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME3	HGNC	protein_coding	OTTHUMT00000393767.2	-	0	73	0	C			86152470	-1	tier1	-	no_errors	ENST00000359636	ensembl	human	known	74_37	missense	18.33	98	22	SNP	1.000	T	T	86152470	C	T	86152470	3	4	146	1	0	0	0	0	1	0	0	0	9457	768	27	1	152	1	ME3	11	86152470	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	19153407	86152470	48854046	193	37235											
TRPC6	7225	genome.wustl.edu	37	chr11	101353851	101353851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatggtgaaggaggctgCgtgtgctacaaacttcatga	14	9	12	6	1	1	2	1	2	0	0	1	3	1	3	0	3	4	2	0	3	5	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:101353851C>T	ENST00000344327.3	-	5	1763	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	TRPC6_ENST00000360497.4_Missense_Mutation_p.A392T|TRPC6_ENST00000532133.1_Missense_Mutation_p.A447T|TRPC6_ENST00000348423.4_Missense_Mutation_p.A331T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	447					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)	p.A447T(1)		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)		AAGGAGGCTGCGTGTGCTACA	0.418																																					Colon(166;1315 1927 11094 12848 34731)												1	Substitution - Missense(1)	large_intestine(1)											105	95	98					11																	101353851		2203	4299	6502	SO:0001583	missense	0			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.1339G>A	11.37:g.101353851C>T	ENSP00000340913:p.Ala447Thr		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.A447T	ENST00000344327.3	37	c.1339	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319186	0.60524	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	L	0.48218	1.51	0.80722	D	1	D;P;D	0.89917	1.0;0.905;1.0	D;B;D	0.91635	0.999;0.346;0.998	T	0.50931	-0.8769	10	0.27785	T	0.31	-0.7414	19.431	0.94765	0.0:1.0:0.0:0.0	.	392;331;447	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	447;447;331;392	ENSP00000340913:A447T;ENSP00000435574:A447T;ENSP00000343672:A331T;ENSP00000353687:A392T	ENSP00000340913:A447T	A	-	1	0	TRPC6	100859061	1.000000	0.71417	0.850000	0.33497	0.989000	0.77384	7.818000	0.86416	2.584000	0.87258	0.591000	0.81541	GCA	TRPC6	-	tigrfam_TRP_channel	ENSG00000137672		0.418	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1		0	46	0	C	NM_004621		101353851	-1			no_errors	ENST00000344327	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	101353851	C	T	101353851	3	4	146	1	0	0	0	0	1	0	0	0	16631	768	27	1	1492	1	TRPC6	11	101353851	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	15201381	101353851	33652665	194	37236											
CASP5	838	genome.wustl.edu	37	chr11	104874037	104874037	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacacagtctcaggaattcTtcacgaggacaaagtttgag	13	11	9	8	1	3	1	2	1	2	0	4	4	3	3	0	2	1	1	0	2	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:104874037T>C	ENST00000260315.3	-	4	506	c.507A>G	c.(505-507)gaA>gaG	p.E169E	CASP5_ENST00000444749.2_Silent_p.E111E|CASP5_ENST00000393141.2_Silent_p.E182E|CASP5_ENST00000526056.1_Silent_p.E182E|CASP5_ENST00000531367.1_Silent_p.E27E|CASP5_ENST00000418434.1_Silent_p.E27E|CASP5_ENST00000393139.2_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	169					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCAGGAATTCTTCACGAGGAC	0.383																																																	0													142	142	142					11																	104874037		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.507A>G	11.37:g.104874037T>C			B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Silent	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.E182	ENST00000260315.3	37	c.546	CCDS8328.2	11																																																																																			CASP5	-	pirsf_Caspase_IL-1_beta	ENSG00000137757		0.383	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2		0	29	0	T	NM_004347		104874037	-1			no_errors	ENST00000393141	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.007	C	C	104874037	T	C	104874037	2	2	146	1	0	0	0	0	0	0	0	1	2681	1606	56	4		4	CASP5	11	104874037	Silent	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	3520186	104874037	30132479	195	37237											
ALG9	79796	genome.wustl.edu	37	chr11	111739440	111739440	+	3'UTR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaagtctgaaacccttccCcatagatgaggtagtgtgtc	10	10	9	12	0	1	3	0	2	1	1	3	3	2	3	4	1	1	1	4	1	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:111739440C>A	ENST00000524880.1	-	0	1282				ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_5'UTR|ALG9_ENST00000531154.1_5'UTR|ALG9_ENST00000527377.1_5'Flank			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase						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)		AAACCCTTCCCCATAGATGAG	0.428																																																	0													87	84	85					11																	111739440		1875	4103	5978	SO:0001624	3_prime_UTR_variant	0				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	ENST00000524880.1:c.*120G>T	11.37:g.111739440C>A			Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	RNA	SNP	-	NULL	ENST00000524880.1	37	NULL		11	.	.	.	.	.	.	.	.	.	.	C	34	5.340417	0.95783	.	.	ENSG00000086848	ENST00000428306	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.86952	0.6057	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.90440	0.4431	9	0.87932	D	0	-12.9835	18.735	0.91750	0.0:1.0:0.0:0.0	.	97;97	Q9H6U8-3;Q9H6U8	.;ALG9_HUMAN	V	330	.	ENSP00000387627:G330V	G	-	2	0	ALG9	111244650	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.433000	0.82419	0.591000	0.81541	GGG	ALG9	-	-	ENSG00000086848		0.428	ALG9-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	ALG9	HGNC	protein_coding	OTTHUMT00000413376.1		0	67	0	C	NM_024740		111739440	-1			no_errors	ENST00000524386	ensembl	human	known	74_37	rna	5.26	72	4	SNP	1.000	A	A	111739440	C	A	111739440	1	1	146	0	1	0	0	0	0	0	0	0	524	623	22	3		3	ALG9	11	111739440	3'UTR	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	6865403	111739440	23267076	196	37238											
DIXDC1	85458	genome.wustl.edu	37	chr11	111835289	111835289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcaacagctgcaggcctAtgtggcctgggtgaatgcac	9	7	13	12	0	0	1	0	1	0	0	0	1	0	1	3	3	5	4	3	3	3	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:111835289A>G	ENST00000529225.1	+	3	354	c.74A>G	c.(73-75)tAt>tGt	p.Y25C	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.Y26C|DIXDC1_ENST00000440460.2_Missense_Mutation_p.Y26C	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	26	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CTGCAGGCCTATGTGGCCTGG	0.498																																																	0													42	44	43					11																	111835289		1923	4130	6053	SO:0001583	missense	0			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000529225.1:c.74A>G	11.37:g.111835289A>G	ENSP00000434130:p.Tyr25Cys		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX	p.Y26C	ENST00000529225.1	37	c.77		11	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756728	0.69648	.	.	ENSG00000150764	ENST00000529225;ENST00000440460;ENST00000531396	T;T;T	0.61742	0.08;0.08;0.08	5.05	5.05	0.67936	Calponin homology domain (5);	0.000000	0.51477	D	0.000087	T	0.76176	0.3951	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.79981	-0.1574	10	0.87932	D	0	-25.1122	14.9707	0.71232	1.0:0.0:0.0:0.0	.	26;26;25	Q155Q3;Q155Q3-4;E9PRV4	DIXC1_HUMAN;.;.	C	25;26;26	ENSP00000434130:Y25C;ENSP00000394352:Y26C;ENSP00000432959:Y26C	ENSP00000394352:Y26C	Y	+	2	0	DIXDC1	111340499	1.000000	0.71417	0.361000	0.25849	0.830000	0.47004	8.761000	0.91691	2.139000	0.66308	0.383000	0.25322	TAT	DIXDC1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000150764		0.498	DIXDC1-002	PUTATIVE	basic	protein_coding	DIXDC1	HGNC	protein_coding	OTTHUMT00000391831.1	-	0	26	0	A	NM_001037954		111835289	1	tier1	-	no_errors	ENST00000440460	ensembl	human	known	74_37	missense	27.66	34	13	SNP	0.996	G	G	111835289	A	G	111835289	3	3	146	1	0	0	0	0	1	0	0	0	4555	449	16	4	83	4	DIXDC1	11	111835289	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	95849	111835289	23171227	197	37239											
PCSK7	9159	genome.wustl.edu	37	chr11	117077812	117077812	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccctgatgtctactgcactCcacacagagccatatagggt	10	10	8	13	0	1	2	0	1	1	1	3	2	3	2	3	1	3	1	3	1	3	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:117077812C>T	ENST00000320934.3	-	15	2481	c.1851G>A	c.(1849-1851)tgG>tgA	p.W617*	PCSK7_ENST00000540028.1_3'UTR|PCSK7_ENST00000529458.1_Intron	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	617					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)		CTACTGCACTCCACACAGAGC	0.622			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													72	64	67					11																	117077812		2200	4274	6474	SO:0001587	stop_gained	0			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.1851G>A	11.37:g.117077812C>T	ENSP00000325917:p.Trp617*		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Nonsense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.W617*	ENST00000320934.3	37	c.1851	CCDS8382.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.859407|10.859407	0.99479|0.99479	.|.	.|.	ENSG00000160613|ENSG00000160613	ENST00000543900|ENST00000320934	.|.	.|.	.|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.377447	.|0.31347	.|N	.|0.007817	T|.	0.73931|.	0.3650|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73930|.	-0.3827|.	5|.	0.48119|0.45353	T|T	0.1|0.12	-15.4137|-15.4137	17.0602|17.0602	0.86546|0.86546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	569|617	.|.	ENSP00000445538:E569K|ENSP00000325917:W617X	E|W	-|-	1|3	0|0	PCSK7|PCSK7	116583022|116583022	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	4.276000|4.276000	0.58933|0.58933	2.599000|2.599000	0.87857|0.87857	0.643000|0.643000	0.83706|0.83706	GAG|TGG	PCSK7	-	superfamily_Galactose-bd-like	ENSG00000160613		0.622	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2		0	63	0	C	NM_004716		117077812	-1			no_errors	ENST00000320934	ensembl	human	known	74_37	nonsense	7.75	131	11	SNP	1.000	T	T	117077812	C	T	117077812	4	4	146	1	0	0	0	0	0	1	0	0	11644	856	30	3	518	3	PCSK7	11	117077812	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	5242523	117077812	17928704	198	37240											
MLL	4297	genome.wustl.edu	37	chr11	118348845	118348845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ggctgccaggtgcctgaggaCtgtggtgtttgtactaattg	6	13	15	7	0	0	1	0	1	0	0	0	2	0	2	2	4	3	3	2	4	2	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:118348845C>A	ENST00000389506.5	+	5	3498	c.3498C>A	c.(3496-3498)gaC>gaA	p.D1166E	KMT2A_ENST00000354520.4_Missense_Mutation_p.D1166E|KMT2A_ENST00000534358.1_Missense_Mutation_p.D1166E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1166					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)										TGCCTGAGGACTGTGGTGTTT	0.507																																																	0													169	165	166					11																	118348845		2200	4296	6496	SO:0001583	missense	0			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.3498C>A	11.37:g.118348845C>A	ENSP00000374157:p.Asp1166Glu		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.D1166E	ENST00000389506.5	37	c.3498	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231607	0.79688	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000533790	D;T;D;D	0.92048	-2.94;0.67;-2.94;-2.96	6.06	6.06	0.98353	Zinc finger, CXXC-type (2);	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95021	0.8160	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1166;1166	E9PQG7;Q03164	.;MLL1_HUMAN	E	1166;1199;1166;1166;76;244	ENSP00000436786:D1166E;ENSP00000432391:D1199E;ENSP00000374157:D1166E;ENSP00000346516:D1166E	ENSP00000346516:D1166E	D	+	3	2	MLL	117854055	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.015000	0.57152	2.882000	0.98803	0.655000	0.94253	GAC	KMT2A	-	pfam_Znf_CXXC,pirsf_MeTrfase_trithorax,pfscan_Znf_CXXC	ENSG00000118058		0.507	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	53	0	C	NM_005933		118348845	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	118348845	C	A	118348845	3	1	146	1	0	0	0	0	1	0	0	0	9658	564	20	3	3516	3	MLL	11	118348845	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	1271033	118348845	16657671	199	37241											
TECTA	7007	genome.wustl.edu	37	chr11	120980130	120980130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaagtacttcaaagacatgGcaaccttctctgccacttgg	11	10	9	11	0	2	1	1	0	1	1	3	2	2	2	2	3	3	2	2	3	4	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:120980130G>A	ENST00000392793.1	+	4	680	c.409G>A	c.(409-411)Gca>Aca	p.A137T	TECTA_ENST00000264037.2_Missense_Mutation_p.A137T			O75443	TECTA_HUMAN	tectorin alpha	137	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				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)		p.A137T(1)	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)		CAAAGACATGGCAACCTTCTC	0.458																																																	1	Substitution - Missense(1)	large_intestine(1)											110	109	109					11																	120980130		2203	4299	6502	SO:0001583	missense	0			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.409G>A	11.37:g.120980130G>A	ENSP00000376543:p.Ala137Thr			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.A137T	ENST00000392793.1	37	c.409	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639706	0.29157	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.37411	1.2;1.2	5.57	1.31	0.21738	Nidogen, extracellular domain (2);	0.273737	0.36740	N	0.002429	T	0.19005	0.0456	N	0.16656	0.425	0.25431	N	0.988185	B	0.17667	0.023	B	0.20955	0.032	T	0.22417	-1.0217	10	0.18710	T	0.47	.	8.639	0.33966	0.1457:0.447:0.4073:0.0	.	137	O75443	TECTA_HUMAN	T	137	ENSP00000376543:A137T;ENSP00000264037:A137T	ENSP00000264037:A137T	A	+	1	0	TECTA	120485340	0.327000	0.24678	1.000000	0.80357	0.996000	0.88848	-0.089000	0.11180	0.289000	0.22422	-0.126000	0.14955	GCA	TECTA	-	smart_Nidogen_extracell_dom	ENSG00000109927		0.458	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0	47	0	G	NM_005422		120980130	1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	7.55	48	4	SNP	0.967	A	A	120980130	G	A	120980130	3	1	146	1	0	0	0	0	1	0	0	0	15794	1203	42	3	419	3	TECTA	11	120980130	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	2631285	120980130	14026386	200	37242											
OR6M1	390261	genome.wustl.edu	37	chr11	123677011	123677011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaatctccaggagagctGggaaggcaattagggtgatt	11	10	14	6	1	1	2	0	1	1	1	3	5	1	3	1	4	1	2	1	4	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:123677011G>T	ENST00000309154.2	-	1	84	c.47C>A	c.(46-48)cCa>cAa	p.P16Q		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CAGGAGAGCTGGGAAGGCAAT	0.433																																																	0													87	77	80					11																	123677011		2202	4299	6501	SO:0001583	missense	0			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.47C>A	11.37:g.123677011G>T	ENSP00000311038:p.Pro16Gln		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P16Q	ENST00000309154.2	37	c.47	CCDS31696.1	11	.	.	.	.	.	.	.	.	.	.	G	8.885	0.952619	0.18431	.	.	ENSG00000196099	ENST00000309154	T	0.00502	6.95	3.57	3.57	0.40892	.	0.000000	0.33075	U	0.005312	T	0.00552	0.0018	L	0.52266	1.64	0.28279	N	0.924066	P	0.46784	0.884	B	0.43155	0.41	T	0.49818	-0.8899	10	0.87932	D	0	.	8.8778	0.35356	0.0:0.2304:0.7696:0.0	.	16	Q8NGM8	OR6M1_HUMAN	Q	16	ENSP00000311038:P16Q	ENSP00000311038:P16Q	P	-	2	0	OR6M1	123182221	0.033000	0.19621	0.387000	0.26183	0.045000	0.14185	2.128000	0.42045	1.806000	0.52798	0.637000	0.83480	CCA	OR6M1	-	NULL	ENSG00000196099		0.433	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6M1	HGNC	protein_coding	OTTHUMT00000387437.1		0	14	0	G	NM_001005325		123677011	-1			no_errors	ENST00000309154	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.947	T	T	123677011	G	T	123677011	3	4	146	1	0	0	0	0	1	0	0	0	11244	1348	47	3	897	3	OR6M1	11	123677011	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	2696881	123677011	11329505	201	37243											
PRDM10	56980	genome.wustl.edu	37	chr11	129827739	129827739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtgtacaccacctgctgtgGggggcgaacctggtcatcgg	6	8	15	12	3	1	0	1	0	0	0	2	1	1	0	3	5	3	2	3	5	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:129827739G>T	ENST00000360871.3	-	3	367	c.136C>A	c.(136-138)Cca>Aca	p.P46T	PRDM10_ENST00000528746.1_Missense_Mutation_p.P46T|PRDM10_ENST00000358825.5_Missense_Mutation_p.P46T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	46				P -> S (in Ref. 6; AAI12935). {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)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACCTGCTGTGGGGGGCGAACC	0.547																																																	0													253	224	234					11																	129827739		2201	4297	6498	SO:0001583	missense	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.136C>A	11.37:g.129827739G>T	ENSP00000354118:p.Pro46Thr		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P46T	ENST00000360871.3	37	c.136	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564128	0.45694	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	T;T;T;T;T	0.42900	3.01;3.02;3.03;0.98;0.96	5.76	4.75	0.60458	.	0.346744	0.32041	N	0.006673	T	0.21509	0.0518	N	0.08118	0	0.80722	D	1	B	0.19200	0.034	B	0.21708	0.036	T	0.09122	-1.0689	10	0.62326	D	0.03	-25.6168	5.5001	0.16825	0.1565:0.2124:0.6311:0.0	.	46	G3XAE5	.	T	46	ENSP00000351686:P46T;ENSP00000354118:P46T;ENSP00000431262:P46T;ENSP00000432093:P46T;ENSP00000436681:P46T	ENSP00000351686:P46T	P	-	1	0	PRDM10	129332949	0.996000	0.38824	0.969000	0.41365	0.922000	0.55478	2.440000	0.44855	2.728000	0.93425	0.655000	0.94253	CCA	PRDM10	-	NULL	ENSG00000170325		0.547	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	-	0	55	0	G	NM_199437		129827739	-1	tier1	-	no_errors	ENST00000358825	ensembl	human	known	74_37	missense	6.82	82	6	SNP	0.846	T	T	129827739	G	T	129827739	3	4	146	1	0	0	0	0	1	0	0	0	12493	1232	43	3	3462	3	PRDM10	11	129827739	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	6150728	129827739	5178777	202	37244											
ADAMTS15	170689	genome.wustl.edu	37	chr11	130332588	130332588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgccagacccgccacttCccctgggccgatggcaccag	6	6	12	17	2	0	1	0	0	0	1	1	2	1	1	7	2	1	1	7	2	0	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr11:130332588C>A	ENST00000299164.2	+	4	1455	c.1455C>A	c.(1453-1455)ttC>ttA	p.F485L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	485	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)		CCCGCCACTTCCCCTGGGCCG	0.622																																																	0													87	85	86					11																	130332588		2201	4297	6498	SO:0001583	missense	0			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.1455C>A	11.37:g.130332588C>A	ENSP00000299164:p.Phe485Leu		Q32MI6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8	p.F485L	ENST00000299164.2	37	c.1455	CCDS8488.1	11	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407650	0.42715	.	.	ENSG00000166106	ENST00000299164	T	0.59906	0.23	5.48	0.397	0.16314	.	.	.	.	.	T	0.56543	0.1992	L	0.31845	0.965	0.58432	D	0.999999	D	0.76494	0.999	D	0.74023	0.982	T	0.53092	-0.8487	9	0.08179	T	0.78	.	9.7305	0.40359	0.0:0.5172:0.0:0.4828	.	485	Q8TE58	ATS15_HUMAN	L	485	ENSP00000299164:F485L	ENSP00000299164:F485L	F	+	3	2	ADAMTS15	129837798	0.844000	0.29557	1.000000	0.80357	0.996000	0.88848	0.048000	0.14078	0.284000	0.22305	-0.140000	0.14226	TTC	ADAMTS15	-	smart_ADAM_Cys-rich	ENSG00000166106		0.622	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS15	HGNC	protein_coding	OTTHUMT00000385638.1	-	0	41	0	C	NM_139055		130332588	1	tier1	-	no_errors	ENST00000299164	ensembl	human	known	74_37	missense	16.98	44	9	SNP	0.994	A	A	130332588	C	A	130332588	3	1	146	1	0	0	0	0	1	0	0	0	260	854	30	3	1469	3	ADAMTS15	11	130332588	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	504849	130332588	4673928	203	37245											
CCDC77	84318	genome.wustl.edu	37	chr12	549908	549908	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggagagagatcttcaaGgtacgaaattatctgccact	14	10	10	7	1	3	3	1	1	2	2	3	6	3	3	1	2	2	1	1	2	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:549908G>T	ENST00000239830.4	+	11	1346	c.1167G>T	c.(1165-1167)aaG>aaT	p.K389N	CCDC77_ENST00000412006.2_Splice_Site_p.K357N|CCDC77_ENST00000540180.1_Splice_Site_p.K357N|CCDC77_ENST00000422000.1_Splice_Site_p.K357N	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	389						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AGATCTTCAAGGTACGAAATT	0.448																																																	0													94	97	96					12																	549908		2203	4300	6503	SO:0001630	splice_region_variant	0			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1167+1G>T	12.37:g.549908G>T			B4DDE8	Missense_Mutation	SNP	NULL	p.K389N	ENST00000239830.4	37	c.1167	CCDS8503.1	12	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679292	0.68042	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.56956	-0.7893	10	0.44086	T	0.13	-27.4168	18.9224	0.92530	0.0:0.0:1.0:0.0	.	389	Q9BR77	CCD77_HUMAN	N	357;357;357;389;357	ENSP00000440554:K357N;ENSP00000391870:K357N;ENSP00000445873:K357N;ENSP00000239830:K389N;ENSP00000412925:K357N	ENSP00000239830:K389N	K	+	3	2	CCDC77	420169	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	6.688000	0.74557	2.472000	0.83506	0.563000	0.77884	AAG	CCDC77	-	NULL	ENSG00000120647		0.448	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1		0	41	0	G	NM_032358	Missense_Mutation	549908	1			no_errors	ENST00000239830	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	549908	G	T	549908	5	4	146	1	0	0	0	0	0	0	1	0	2858	1014	35	3	1201	3	CCDC77	12	549908	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09		549908	133301987	204	37246											
DPPA3	359787	genome.wustl.edu	37	chr12	7867910	7867910	+	Missense_Mutation	SNP	A	A	G	1	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	ctgtaggagcagcagtcctcAgggaaatcgaagatgagtgg	12	7	15	7	1	1	2	1	1	0	1	3	5	2	4	1	3	2	3	1	3	3	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:7867910A>G	ENST00000345088.2	+	2	331	c.214A>G	c.(214-216)Agg>Ggg	p.R72G		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	72					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)		AGCAGTCCTCAGGGAAATCGA	0.458																																																	0													83	75	78					12																	7867910		2203	4300	6503	SO:0001583	missense	0			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.214A>G	12.37:g.7867910A>G	ENSP00000339250:p.Arg72Gly		Q0P5U3|Q6JZS6	Missense_Mutation	SNP	NULL	p.R72G	ENST00000345088.2	37	c.214	CCDS8582.1	12	.	.	.	.	.	.	.	.	.	.	A	7.381	0.628741	0.14257	.	.	ENSG00000187569	ENST00000345088	T	0.49432	0.78	2.48	0.469	0.16741	.	.	.	.	.	T	0.29093	0.0723	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.19844	-1.0293	9	0.49607	T	0.09	-2.0612	4.4606	0.11665	0.2767:0.488:0.2353:0.0	.	72	Q6W0C5	DPPA3_HUMAN	G	72	ENSP00000339250:R72G	ENSP00000339250:R72G	R	+	1	2	DPPA3	7759177	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.918000	0.04021	0.127000	0.18452	-0.648000	0.03929	AGG	DPPA3	-	NULL	ENSG00000187569		0.458	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA3	HGNC	protein_coding	OTTHUMT00000399718.1	-	0	65	0	A	NM_199286		7867910	1	tier1	-	no_errors	ENST00000345088	ensembl	human	known	74_37	missense	14.73	110	19	SNP	0.000	G	G	7867910	A	G	7867910	3	3	146	1	0	0	0	0	1	0	0	0	4749	179	7	4	220	4	DPPA3	12	7867910	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	7318002	7867910	125983985	205	37247											
TSPAN11	441631	genome.wustl.edu	37	chr12	31135479	31135479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctccagttcaagtgctgtGgaagcaacagctcagccgac	10	7	11	13	1	2	0	2	0	0	0	3	2	3	1	3	1	5	4	3	1	3	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:31135479G>A	ENST00000261177.9	+	6	528	c.469G>A	c.(469-471)Gga>Aga	p.G157R	TSPAN11_ENST00000544427.1_Missense_Mutation_p.G147R|TSPAN11_ENST00000546076.1_Missense_Mutation_p.G157R|TSPAN11_ENST00000535215.1_Missense_Mutation_p.G86R	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	157						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)					CAAGTGCTGTGGAAGCAACAG	0.607																																																	0													35	38	37					12																	31135479		2202	4298	6500	SO:0001583	missense	0				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.469G>A	12.37:g.31135479G>A	ENSP00000261177:p.Gly157Arg		A1L158|B2RUX6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.G157R	ENST00000261177.9	37	c.469	CCDS31765.1	12	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181560	0.57800	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	D;D;D;D	0.99201	-5.55;-5.55;-5.55;-5.55	4.13	4.13	0.48395	Tetraspanin, EC2 domain (1);	0.000000	0.85682	U	0.000000	D	0.99477	0.9814	H	0.95950	3.745	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.76071	0.987;0.965	D	0.98200	1.0467	10	0.72032	D	0.01	.	13.865	0.63583	0.0:0.0:1.0:0.0	.	147;157	F5H0F0;A1L157	.;TSN11_HUMAN	R	157;86;147;157	ENSP00000437403:G157R;ENSP00000445503:G86R;ENSP00000439895:G147R;ENSP00000261177:G157R	ENSP00000261177:G157R	G	+	1	0	TSPAN11	31026746	1.000000	0.71417	0.290000	0.24890	0.327000	0.28475	9.191000	0.94940	1.814000	0.52955	0.313000	0.20887	GGA	TSPAN11	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000110900		0.607	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TSPAN11	HGNC	protein_coding	OTTHUMT00000399888.1	-	0	42	0	G	XM_497334		31135479	1	tier1	-	no_errors	ENST00000261177	ensembl	human	known	74_37	missense	8.08	91	8	SNP	1.000	A	A	31135479	G	A	31135479	3	1	146	1	0	0	0	0	1	0	0	0	16683	1349	47	3	487	3	TSPAN11	12	31135479	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	23267569	31135479	102716416	206	37248											
C12orf35	55196	genome.wustl.edu	37	chr12	32136172	32136172	+	Silent	SNP	T	T	C	0	1	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	ggaacagaacttcagatagcTgtagtgtcaccgttagttct	11	12	10	8	1	3	2	2	0	1	2	3	3	3	3	1	1	3	4	1	1	5	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:32136172T>C	ENST00000312561.4	+	4	2697	c.2283T>C	c.(2281-2283)gcT>gcC	p.A761A	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	761																	TTCAGATAGCTGTAGTGTCAC	0.388																																																	0													81	78	79					12																	32136172		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2283T>C	12.37:g.32136172T>C			B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	NULL	p.A761	ENST00000312561.4	37	c.2283	CCDS8725.2	12																																																																																			KIAA1551	-	NULL	ENSG00000174718		0.388	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	-	0	37	0	T	NM_018169		32136172	1	tier1	-	no_errors	ENST00000312561	ensembl	human	known	74_37	silent	11.49	76	10	SNP	0.157	C	C	32136172	T	C	32136172	2	2	146	1	0	0	0	0	0	0	0	1	1687	1567	55	4		4	C12orf35	12	32136172	Silent	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	1000693	32136172	101715723	207	37249											
NEUROD4	58158	genome.wustl.edu	37	chr12	55421005	55421005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccacccctgagcatcagtgGgaacttctccttgaagcaag	10	9	9	13	0	2	2	1	2	1	0	4	3	3	3	4	1	3	2	4	1	3	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:55421005G>T	ENST00000242994.3	+	2	1160	c.782G>T	c.(781-783)gGg>gTg	p.G261V		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	261					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGCATCAGTGGGAACTTCTCC	0.507																																																	0													119	115	116					12																	55421005		2203	4300	6503	SO:0001583	missense	0			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.782G>T	12.37:g.55421005G>T	ENSP00000242994:p.Gly261Val		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.G261V	ENST00000242994.3	37	c.782	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477997	0.84747	.	.	ENSG00000123307	ENST00000242994	T	0.71103	-0.54	5.85	5.85	0.93711	Neurogenic differentiation factor, domain of unknown function (1);	0.047454	0.85682	D	0.000000	D	0.85375	0.5682	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86176	0.1603	10	0.87932	D	0	-30.5834	18.0364	0.89305	0.0:0.0:1.0:0.0	.	261	Q9HD90	NDF4_HUMAN	V	261	ENSP00000242994:G261V	ENSP00000242994:G261V	G	+	2	0	NEUROD4	53707272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGG	NEUROD4	-	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD	ENSG00000123307		0.507	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	-	0	55	0	G			55421005	1	tier1	-	no_errors	ENST00000242994	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	55421005	G	T	55421005	3	4	146	1	0	0	0	0	1	0	0	0	10389	1232	43	3	784	3	NEUROD4	12	55421005	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	23284833	55421005	78430890	208	37250											
SMARCC2	6601	genome.wustl.edu	37	chr12	56558481	56558481	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcccctggcatcattgaGggaggagtttgttggttggg	6	12	16	7	0	1	1	1	1	0	0	1	3	1	3	2	5	1	4	2	5	0	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:56558481G>T	ENST00000267064.4	-	27	3260	c.3174C>A	c.(3172-3174)ccC>ccA	p.P1058P	SMARCC2_ENST00000347471.4_Silent_p.P1089P|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Silent_p.P1089P|SMARCC2_ENST00000394023.3_Silent_p.P1089P	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1058	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCATCATTGAGGGAGGAGTTT	0.527																																																	0													30	30	30					12																	56558481		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3174C>A	12.37:g.56558481G>T			F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.P1058	ENST00000267064.4	37	c.3174	CCDS8907.1	12																																																																																			SMARCC2	-	NULL	ENSG00000139613		0.527	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	-	0	39	0	G			56558481	-1	tier1	-	no_errors	ENST00000267064	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	56558481	G	T	56558481	2	4	146	1	0	0	0	0	0	0	0	1	14821	987	35	3		3	SMARCC2	12	56558481	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1137476	56558481	77293414	209	37251											
GLI1	2735	genome.wustl.edu	37	chr12	57858936	57858936	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagatgaatcaccaaaaaggGccctcgccttcctttggggt	10	9	10	12	1	1	2	1	1	0	1	3	2	2	2	4	3	0	0	4	3	3	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:57858936G>T	ENST00000228682.2	+	5	523	c.432G>T	c.(430-432)ggG>ggT	p.G144G	GLI1_ENST00000546141.1_Silent_p.G103G|GLI1_ENST00000543426.1_Silent_p.G16G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	144					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)			ACCAAAAAGGGCCCTCGCCTT	0.577																																					Pancreas(157;841 1936 10503 41495 50368)												0													64	64	64					12																	57858936		2203	4300	6503	SO:0001819	synonymous_variant	0				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.432G>T	12.37:g.57858936G>T			D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G144	ENST00000228682.2	37	c.432	CCDS8940.1	12																																																																																			GLI1	-	NULL	ENSG00000111087		0.577	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	-	0	62	0	G	NM_005269		57858936	1	tier1	-	no_errors	ENST00000228682	ensembl	human	known	74_37	silent	13.64	95	15	SNP	0.991	T	T	57858936	G	T	57858936	2	4	146	1	0	0	0	0	0	0	0	1	6463	1190	42	3		3	GLI1	12	57858936	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1300455	57858936	75992959	210	37252											
LEMD3	23592	genome.wustl.edu	37	chr12	65632541	65632541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgatgtctttttggtgtcGttttcgacgtgcttttgtta	4	21	10	6	3	1	1	0	1	1	0	3	2	1	1	0	1	1	3	0	1	1	7			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:65632541G>A	ENST00000308330.2	+	6	1894	c.1868G>A	c.(1867-1869)cGt>cAt	p.R623H		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	623					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTTGGTGTCGTTTTCGACGT	0.353																																																	0													202	175	184					12																	65632541		2203	4300	6503	SO:0001583	missense	0			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1868G>A	12.37:g.65632541G>A	ENSP00000308369:p.Arg623His		Q9NT47|Q9NYA5	Missense_Mutation	SNP	pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom	p.R623H	ENST00000308330.2	37	c.1868	CCDS8972.1	12	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795785	0.90453	.	.	ENSG00000174106	ENST00000308330	T	0.52983	0.64	4.89	4.89	0.63831	Inner nuclear membrane protein MAN1 (1);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68758	-0.5324	9	.	.	.	-9.3081	18.9427	0.92610	0.0:0.0:1.0:0.0	.	623	Q9Y2U8	MAN1_HUMAN	H	623	ENSP00000308369:R623H	.	R	+	2	0	LEMD3	63918808	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.295000	0.89937	2.653000	0.90120	0.655000	0.94253	CGT	LEMD3	-	pfam_Inner-Nucl-membr_MAN1	ENSG00000174106		0.353	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD3	HGNC	protein_coding	OTTHUMT00000401312.2	-	0	24	0	G			65632541	1	tier1	-	no_errors	ENST00000308330	ensembl	human	known	74_37	missense	14.04	49	8	SNP	1.000	A	A	65632541	G	A	65632541	3	1	146	1	0	0	0	0	1	0	0	0	8749	1145	40	1	1890	1	LEMD3	12	65632541	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	7773605	65632541	68219354	211	37253											
ACSS3	79611	genome.wustl.edu	37	chr12	81648675	81648675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccagcatttttggccacGtagaagaaatgctgaagcaa	14	8	9	10	1	0	3	0	1	0	2	0	3	0	3	3	1	3	4	3	1	5	3	rs368687134		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:81648675G>A	ENST00000548058.1	+	16	2945	c.2035G>A	c.(2035-2037)Gta>Ata	p.V679I	ACSS3_ENST00000548324.1_Missense_Mutation_p.V361I|ACSS3_ENST00000261206.3_Missense_Mutation_p.V678I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	679						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						TTTTGGCCACGTAGAAGAAAT	0.313																																																	0								G	ILE/VAL	0,4406		0,0,2203	92	97	95		2035	3.6	1	12		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSS3	NM_024560.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	679/687	81648675	1,13005	2203	4300	6503	SO:0001583	missense	0				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.2035G>A	12.37:g.81648675G>A	ENSP00000449535:p.Val679Ile		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V679I	ENST00000548058.1	37	c.2035	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	G	0.820	-0.748859	0.03065	0.0	1.16E-4	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.47869	1.94;1.95;0.83	5.95	3.59	0.41128	.	0.202495	0.50627	N	0.000109	T	0.13072	0.0317	N	0.01081	-1.03	0.25300	N	0.989284	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.33548	-0.9864	10	0.02654	T	1	-10.3099	4.293	0.10888	0.6465:0.0:0.2162:0.1373	.	361;679	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	I	679;678;361	ENSP00000449535:V679I;ENSP00000261206:V678I;ENSP00000448965:V361I	ENSP00000261206:V678I	V	+	1	0	ACSS3	80172806	0.972000	0.33761	1.000000	0.80357	0.501000	0.33797	1.635000	0.37134	0.489000	0.27749	-0.312000	0.09012	GTA	ACSS3	-	NULL	ENSG00000111058		0.313	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0	85	0	G	NM_024560		81648675	1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	missense	15.25	98	18	SNP	0.996	A	A	81648675	G	A	81648675	3	1	146	1	0	0	0	0	1	0	0	0	190	1145	40	1	2097	1	ACSS3	12	81648675	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	16016134	81648675	52203220	212	37254											
CDK17	5128	genome.wustl.edu	37	chr12	96704833	96704833	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccaaaaacttactaaGgaagctctacgagaccttcg	15	7	9	10	2	1	2	0	0	1	2	2	5	1	3	2	2	4	1	2	2	6	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:96704833G>T	ENST00000261211.3	-	5	1143	c.540C>A	c.(538-540)tcC>tcA	p.S180S	CDK17_ENST00000543119.2_Silent_p.S180S|CDK17_ENST00000542666.1_Silent_p.S127S	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	180					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						AACTTACTAAGGAAGCTCTAC	0.388																																																	0													137	127	130					12																	96704833		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.540C>A	12.37:g.96704833G>T			A8K1U6|B2RCQ2|Q8NEB8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S180	ENST00000261211.3	37	c.540	CCDS9061.1	12																																																																																			CDK17	-	superfamily_Kinase-like_dom	ENSG00000059758		0.388	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK17	HGNC	protein_coding	OTTHUMT00000408751.1	-	0	49	0	G	NM_002595		96704833	-1	tier1	-	no_errors	ENST00000261211	ensembl	human	known	74_37	silent	6.33	74	5	SNP	0.752	T	T	96704833	G	T	96704833	2	4	146	1	0	0	0	0	0	0	0	1	3140	987	35	3		3	CDK17	12	96704833	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	15056158	96704833	37147062	213	37255											
NEDD1	121441	genome.wustl.edu	37	chr12	97330537	97330537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttaagaccatcagtgctCacaagacatctgtgcagtgt	12	10	9	10	0	3	2	2	0	1	2	3	2	3	2	1	0	2	3	1	0	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:97330537C>A	ENST00000266742.4	+	8	1207	c.868C>A	c.(868-870)Cac>Aac	p.H290N	NEDD1_ENST00000557644.1_Missense_Mutation_p.H297N|NEDD1_ENST00000429527.2_Missense_Mutation_p.H290N|NEDD1_ENST00000411739.2_Missense_Mutation_p.H201N|NEDD1_ENST00000457368.2_Missense_Mutation_p.H201N	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	290					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CATCAGTGCTCACAAGACATC	0.358																																																	0													116	117	117					12																	97330537		2203	4300	6503	SO:0001583	missense	0				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"WD repeat domain containing"	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.868C>A	12.37:g.97330537C>A	ENSP00000266742:p.His290Asn		B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H297N	ENST00000266742.4	37	c.889	CCDS9063.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.117223	0.94385	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.44482	1.08;1.08;0.92;1.08;0.92	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.78314	0.991;0.981	T	0.82438	-0.0457	10	0.72032	D	0.01	.	19.7278	0.96172	0.0:1.0:0.0:0.0	.	297;290	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	N	290;290;201;297;201	ENSP00000266742:H290N;ENSP00000404978:H290N;ENSP00000411307:H201N;ENSP00000451211:H297N;ENSP00000407964:H201N	ENSP00000266742:H290N	H	+	1	0	NEDD1	95854668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.447000	0.80620	2.656000	0.90262	0.591000	0.81541	CAC	NEDD1	-	superfamily_WD40_repeat_dom	ENSG00000139350		0.358	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEDD1	HGNC	protein_coding	OTTHUMT00000409792.1	-	0	34	0	C			97330537	1	tier1	-	no_errors	ENST00000557644	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A	A	97330537	C	A	97330537	3	1	146	1	0	0	0	0	1	0	0	0	10348	826	29	3	915	3	NEDD1	12	97330537	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	625704	97330537	36521358	214	37256											
CCDC63	160762	genome.wustl.edu	37	chr12	111336860	111336860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaagataaactgtgacGccaccaagatcctggtgcag	14	7	10	10	1	1	4	1	1	0	3	2	4	2	4	3	1	2	1	3	1	5	1	rs148044780		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:111336860G>A	ENST00000308208.5	+	10	1515	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	CCDC63_ENST00000545036.1_Missense_Mutation_p.A385T|CCDC63_ENST00000552694.1_Missense_Mutation_p.A346T	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	425										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						AAACTGTGACGCCACCAAGAT	0.498																																																	0								G	THR/ALA	0,4406		0,0,2203	100	88	92		1273	2.5	0.9	12	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC63	NM_152591.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	425/564	111336860	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1273G>A	12.37:g.111336860G>A	ENSP00000312399:p.Ala425Thr		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.A425T	ENST00000308208.5	37	c.1273	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088344	0.36855	0.0	1.16E-4	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.42131	0.98;0.98;0.98	4.49	2.55	0.30701	.	0.472817	0.23863	N	0.043830	T	0.29389	0.0732	M	0.62154	1.92	0.25706	N	0.98553	P	0.43578	0.811	B	0.31946	0.138	T	0.21415	-1.0246	10	0.12430	T	0.62	.	8.7898	0.34843	0.0:0.1649:0.6642:0.1709	.	425	Q8NA47	CCD63_HUMAN	T	385;425;346	ENSP00000445881:A385T;ENSP00000312399:A425T;ENSP00000450217:A346T	ENSP00000312399:A425T	A	+	1	0	CCDC63	109821243	0.010000	0.17322	0.898000	0.35279	0.725000	0.41563	0.396000	0.20867	0.530000	0.28619	0.542000	0.68232	GCC	CCDC63	-	NULL	ENSG00000173093		0.498	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	-	0	71	0	G	NM_152591		111336860	1	tier1	rs148044780	no_errors	ENST00000308208	ensembl	human	known	74_37	missense	11.11	88	11	SNP	0.984	A	A	111336860	G	A	111336860	3	1	146	1	0	0	0	0	1	0	0	0	2841	1087	38	1	1307	1	CCDC63	12	111336860	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	14006323	111336860	22515035	215	37257											
PITPNM2	57605	genome.wustl.edu	37	chr12	123489971	123489971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcattgaactgggccatCttacgggaaagcatgagctg	10	10	11	10	1	2	2	1	2	1	0	3	3	3	3	2	2	4	2	2	2	3	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:123489971C>A	ENST00000542749.1	-	5	831	c.768G>T	c.(766-768)aaG>aaT	p.K256N	PITPNM2_ENST00000320201.4_Missense_Mutation_p.K256N|PITPNM2_ENST00000546049.1_Missense_Mutation_p.K256N|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000280562.5_Missense_Mutation_p.K256N			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	256					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)		ACTGGGCCATCTTACGGGAAA	0.627																																																	0													181	144	156					12																	123489971		2203	4300	6503	SO:0001583	missense	0			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.768G>T	12.37:g.123489971C>A	ENSP00000437611:p.Lys256Asn		Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.K256N	ENST00000542749.1	37	c.768	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907481	0.72868	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.47177	0.85;0.85;0.85	4.72	3.81	0.43845	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	0.996;0.999;1.0	D;D;D	0.85130	0.954;0.993;0.997	T	0.68519	-0.5387	10	0.72032	D	0.01	-36.5299	8.8199	0.35018	0.0:0.8247:0.0:0.1753	.	256;256;256	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	N	256	ENSP00000280562:K256N;ENSP00000322218:K256N;ENSP00000437611:K256N	ENSP00000280562:K256N	K	-	3	2	PITPNM2	122055924	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.496000	0.35638	1.084000	0.41184	0.561000	0.74099	AAG	PITPNM2	-	NULL	ENSG00000090975		0.627	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	-	0	39	0	C	NM_020845		123489971	-1	tier1	-	no_errors	ENST00000320201	ensembl	human	known	74_37	missense	18.33	49	11	SNP	1.000	A	A	123489971	C	A	123489971	3	1	146	1	0	0	0	0	1	0	0	0	11990	912	32	3	3361	3	PITPNM2	12	123489971	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	12153111	123489971	10361924	216	37258											
AACS	65985	genome.wustl.edu	37	chr12	125558421	125558421	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagctatttcatttttaGagagttatgatgacttgtac	10	18	8	5	0	2	4	1	3	1	1	2	5	2	4	0	0	2	3	0	0	4	8			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr12:125558421G>T	ENST00000316519.6	+	2	339		c.e2-1		AACS_ENST00000261686.6_Splice_Site	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase						adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TTCATTTTTAGAGAGTTATGA	0.418																																																	0													138	128	131					12																	125558421		2203	4300	6503	SO:0001630	splice_region_variant	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.134-1G>T	12.37:g.125558421G>T			Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Splice_Site	SNP	-	e2-1	ENST00000316519.6	37	c.134-1	CCDS9263.1	12	.	.	.	.	.	.	.	.	.	.	.	12.79	2.044455	0.36085	.	.	ENSG00000081760	ENST00000316519;ENST00000536752;ENST00000261686	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4648	0.84076	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AACS	124124374	1.000000	0.71417	0.525000	0.27900	0.312000	0.27988	7.958000	0.87877	2.251000	0.74343	0.491000	0.48974	.	AACS	-	-	ENSG00000081760		0.418	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1		0	33	0	G	NM_023928	Intron	125558421	1			no_errors	ENST00000316519	ensembl	human	known	74_37	splice_site	5.41	35	2	SNP	1.000	T	T	125558421	G	T	125558421	5	4	146	1	0	0	0	0	0	0	1	0	9	956	33	3	139	3	AACS	12	125558421	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	2068450	125558421	8293474	217	37259											
RNF17	56163	genome.wustl.edu	37	chr13	25378525	25378525	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacagatgtttcagtaacGgtttgtcatataaatagtcc	13	14	8	6	1	2	2	2	1	0	1	3	2	3	2	1	1	1	3	1	1	5	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr13:25378525G>T	ENST00000255324.5	+	15	2101	c.2049G>T	c.(2047-2049)acG>acT	p.T683T	RNF17_ENST00000255325.6_Intron|RNF17_ENST00000381921.1_Silent_p.T683T	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	683					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)		TTTCAGTAACGGTTTGTCATA	0.284																																																	0													81	81	81					13																	25378525		2200	4300	6500	SO:0001819	synonymous_variant	0			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.2049G>T	13.37:g.25378525G>T			Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.T683	ENST00000255324.5	37	c.2049	CCDS9308.2	13																																																																																			RNF17	-	pfam_Tudor	ENSG00000132972		0.284	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	-	0	31	0	G	NM_031994		25378525	1	tier1	-	no_errors	ENST00000255324	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.999	T	T	25378525	G	T	25378525	2	4	146	1	0	0	0	0	0	0	0	1	13506	1103	39	2		2	RNF17	13	25378525	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09		25378525	89791353	218	37260											
SPG20	23111	genome.wustl.edu	37	chr13	36900829	36900829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcttcacttgaagtatCtttagcctaaacagtaaaaa	16	13	4	8	0	3	1	1	1	2	0	3	1	3	1	1	0	3	2	1	0	9	8			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr13:36900829C>A	ENST00000451493.1	-	5	1388	c.1171G>T	c.(1171-1173)Gat>Tat	p.D391Y	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.D391Y|SPG20_ENST00000355182.4_Missense_Mutation_p.D391Y|SPG20_ENST00000494062.2_Missense_Mutation_p.D391Y	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	391					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)		CTTGAAGTATCTTTAGCCTAA	0.353																																																	0													72	64	67					13																	36900829		2203	4300	6503	SO:0001583	missense	0			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.1171G>T	13.37:g.36900829C>A	ENSP00000414147:p.Asp391Tyr		O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	pfam_Senescence/spartin,pfam_MIT,smart_MIT	p.D391Y	ENST00000451493.1	37	c.1171	CCDS9356.1	13	.	.	.	.	.	.	.	.	.	.	C	15.31	2.797068	0.50208	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.90004	-2.6;-2.6;-2.6	5.68	4.84	0.62591	.	0.921722	0.09305	N	0.820379	D	0.89914	0.6853	L	0.40543	1.245	0.39616	D	0.969961	P;D	0.55385	0.911;0.971	P;P	0.52309	0.594;0.695	D	0.86345	0.1707	10	0.62326	D	0.03	-9.2231	14.7443	0.69480	0.0:0.9305:0.0:0.0695	.	391;391	B3KMI3;Q8N0X7	.;SPG20_HUMAN	Y	391	ENSP00000406061:D391Y;ENSP00000347314:D391Y;ENSP00000414147:D391Y	ENSP00000347314:D391Y	D	-	1	0	SPG20	35798829	0.991000	0.36638	0.726000	0.30738	0.691000	0.40173	4.408000	0.59761	1.396000	0.46663	0.563000	0.77884	GAT	SPG20	-	NULL	ENSG00000133104		0.353	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	-	0	33	0	C			36900829	-1	tier1	-	no_errors	ENST00000355182	ensembl	human	known	74_37	missense	21.05	30	8	SNP	0.994	A	A	36900829	C	A	36900829	3	1	146	1	0	0	0	0	1	0	0	0	15089	913	32	3	849	3	SPG20	13	36900829	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	11522304	36900829	78269049	219	37261											
GPC5	2262	genome.wustl.edu	37	chr13	92408605	92408605	+	Missense_Mutation	SNP	A	A	G	1	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	ctatggaggtctagctgatcAgctttgtgctaatgaattag	10	14	11	6	0	2	2	1	2	1	0	2	3	2	3	0	2	3	3	0	2	5	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr13:92408605A>G	ENST00000377067.3	+	5	1583	c.1211A>G	c.(1210-1212)cAg>cGg	p.Q404R	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	404					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTAGCTGATCAGCTTTGTGCT	0.378																																																	0													147	144	145					13																	92408605		2203	4300	6503	SO:0001583	missense	0			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1211A>G	13.37:g.92408605A>G	ENSP00000366267:p.Gln404Arg		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.Q404R	ENST00000377067.3	37	c.1211	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	A	8.940	0.965625	0.18583	.	.	ENSG00000179399	ENST00000377067	T	0.49720	0.77	5.32	5.32	0.75619	.	0.368895	0.31589	N	0.007383	T	0.35711	0.0941	L	0.45137	1.4	0.43160	D	0.994945	B	0.10296	0.003	B	0.14023	0.01	T	0.19712	-1.0297	10	0.02654	T	1	-16.4053	12.6855	0.56946	1.0:0.0:0.0:0.0	.	404	P78333	GPC5_HUMAN	R	404	ENSP00000366267:Q404R	ENSP00000366267:Q404R	Q	+	2	0	GPC5	91206606	1.000000	0.71417	0.999000	0.59377	0.600000	0.36913	6.987000	0.76206	2.016000	0.59253	0.443000	0.29094	CAG	GPC5	-	pfam_Glypican	ENSG00000179399		0.378	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1		0	26	0	A	NM_004466		92408605	1			no_errors	ENST00000377067	ensembl	human	known	74_37	missense	11.11	48	6	SNP	1.000	G	G	92408605	A	G	92408605	3	3	146	1	0	0	0	0	1	0	0	0	6627	188	7	4	1229	4	GPC5	13	92408605	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	55507776	92408605	22761273	220	37262											
GPC5	2262	genome.wustl.edu	37	chr13	92408660	92408660	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttccctgctggaatggagaAgatatagtaaaaaggtattt	14	12	10	5	0	0	2	0	0	0	2	1	4	1	3	1	3	1	3	1	3	8	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr13:92408660A>C	ENST00000377067.3	+	5	1638	c.1266A>C	c.(1264-1266)gaA>gaC	p.E422D	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	422					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGAATGGAGAAGATATAGTAA	0.393																																																	0													148	146	146					13																	92408660		2203	4300	6503	SO:0001583	missense	0			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1266A>C	13.37:g.92408660A>C	ENSP00000366267:p.Glu422Asp		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.E422D	ENST00000377067.3	37	c.1266	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	A	14.76	2.632786	0.47049	.	.	ENSG00000179399	ENST00000377067	T	0.49720	0.77	5.32	-4.17	0.03857	.	0.231122	0.44902	D	0.000402	T	0.37865	0.1019	L	0.54323	1.7	0.23645	N	0.997211	B	0.09022	0.002	B	0.18871	0.023	T	0.30966	-0.9960	10	0.45353	T	0.12	0.0047	12.4067	0.55443	0.4404:0.0:0.5596:0.0	.	422	P78333	GPC5_HUMAN	D	422	ENSP00000366267:E422D	ENSP00000366267:E422D	E	+	3	2	GPC5	91206661	0.999000	0.42202	0.117000	0.21633	0.406000	0.30931	0.604000	0.24164	-0.827000	0.04278	-0.410000	0.06199	GAA	GPC5	-	pfam_Glypican	ENSG00000179399		0.393	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	-	0	36	0	A	NM_004466		92408660	1	tier1	-	no_errors	ENST00000377067	ensembl	human	known	74_37	missense	13.33	52	8	SNP	0.692	C	C	92408660	A	C	92408660	3	2	146	1	0	0	0	0	1	0	0	0	6627	69	3	4	1284	4	GPC5	13	92408660	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	55	92408660	22761218	221	37263											
NALCN	259232	genome.wustl.edu	37	chr13	101717782	101717782	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcatggaaggtgacgtcGccgccattgtggagcctctc	8	9	12	12	3	2	1	1	1	1	0	4	3	2	3	3	3	1	0	3	3	1	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr13:101717782G>T	ENST00000251127.6	-	40	4659	c.4578C>A	c.(4576-4578)ggC>ggA	p.G1526G		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1526					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)					AGGTGACGTCGCCGCCATTGT	0.577																																																	0													162	128	139					13																	101717782		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4578C>A	13.37:g.101717782G>T			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.G1526	ENST00000251127.6	37	c.4578	CCDS9498.1	13																																																																																			NALCN	-	NULL	ENSG00000102452		0.577	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2		0	27	0	G	NM_052867		101717782	-1			no_errors	ENST00000251127	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.004	T	T	101717782	G	T	101717782	2	4	146	1	0	0	0	0	0	0	0	1	10186	1074	38	2		2	NALCN	13	101717782	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	9309122	101717782	13452096	222	37264											
CARS2	79587	genome.wustl.edu	37	chr13	111329405	111329405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctcctggggtttggccGccttccacagggcgaagtca	7	8	12	14	2	1	0	1	0	0	0	3	1	3	0	5	4	0	1	5	4	1	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr13:111329405G>T	ENST00000257347.4	-	7	764	c.701C>A	c.(700-702)gCg>gAg	p.A234E	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	234					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GGGTTTGGCCGCCTTCCACAG	0.632																																																	0													52	54	53					13																	111329405		2203	4300	6503	SO:0001583	missense	0			BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.701C>A	13.37:g.111329405G>T	ENSP00000257347:p.Ala234Glu		Q8NI84|Q96IV4	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.A234E	ENST00000257347.4	37	c.701	CCDS9514.1	13	.	.	.	.	.	.	.	.	.	.	g	18.62	3.662386	0.67700	.	.	ENSG00000134905	ENST00000257347	T	0.34072	1.38	5.42	4.57	0.56435	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.372817	0.29172	N	0.012934	T	0.60689	0.2288	M	0.86178	2.8	0.49130	D	0.99975	P	0.48294	0.908	P	0.57776	0.827	T	0.66156	-0.5994	10	0.46703	T	0.11	-22.9007	16.3654	0.83319	0.0:0.1318:0.8682:0.0	.	234	Q9HA77	SYCM_HUMAN	E	234	ENSP00000257347:A234E	ENSP00000257347:A234E	A	-	2	0	CARS2	110127406	0.892000	0.30473	0.880000	0.34516	0.381000	0.30169	1.232000	0.32636	1.268000	0.44264	0.556000	0.70494	GCG	CARS2	-	pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	ENSG00000134905		0.632	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARS2	HGNC	protein_coding	OTTHUMT00000045772.3		0	29	0	G	NM_024537		111329405	-1			no_errors	ENST00000257347	ensembl	human	known	74_37	missense	5.56	50	3	SNP	0.998	T	T	111329405	G	T	111329405	3	4	146	1	0	0	0	0	1	0	0	0	2665	1087	38	2	1029	2	CARS2	13	111329405	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	9611623	111329405	3840473	223	37265											
PSME2	5721	genome.wustl.edu	37	chr14	24612685	24612685	+	Missense_Mutation	SNP	T	T	C	0	1	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	ccaggttgctgctgatgataTgataaagctcagcctgggag	10	10	13	8	0	1	3	1	3	0	0	1	4	1	4	2	2	4	4	2	2	3	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr14:24612685T>C	ENST00000216802.5	-	11	1292	c.653A>G	c.(652-654)cAt>cGt	p.H218R	EMC9_ENST00000216799.4_5'Flank|EMC9_ENST00000419198.2_5'Flank|PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Missense_Mutation_p.H207R|EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000560403.1_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	218					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)		GCTGATGATATGATAAAGCTC	0.483																																																	0													100	96	98					14																	24612685		2203	4300	6503	SO:0001583	missense	0				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.653A>G	14.37:g.24612685T>C	ENSP00000216802:p.His218Arg		Q15129	Missense_Mutation	SNP	pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28	p.H218R	ENST00000216802.5	37	c.653	CCDS9614.1	14	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250454	0.80024	.	.	ENSG00000100911	ENST00000216802	T	0.41758	0.99	5.15	5.15	0.70609	Proteasome activator pa28, REG beta subunit (2);	0.049688	0.85682	D	0.000000	T	0.48624	0.1510	L	0.36672	1.1	0.39509	D	0.968328	D	0.54601	0.967	P	0.58266	0.836	T	0.53725	-0.8398	10	0.87932	D	0	0.5674	11.6538	0.51306	0.0:0.0:0.0:1.0	.	218	Q9UL46	PSME2_HUMAN	R	218	ENSP00000216802:H218R	ENSP00000216802:H218R	H	-	2	0	PSME2	23682525	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.911000	0.69939	2.077000	0.62373	0.459000	0.35465	CAT	PSME2	-	pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28	ENSG00000100911		0.483	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME2	HGNC	protein_coding	OTTHUMT00000071918.3	-	0	51	0	T	NM_002818		24612685	-1	tier1	-	no_errors	ENST00000216802	ensembl	human	known	74_37	missense	14.47	65	11	SNP	1.000	C	C	24612685	T	C	24612685	3	2	146	1	0	0	0	0	1	0	0	0	12749	1464	51	4	70	4	PSME2	14	24612685	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09		24612685	82736855	224	37266											
G2E3	55632	genome.wustl.edu	37	chr14	31074771	31074772	+	Frame_Shift_Ins	INS	-	-	A																															tagagttaggattccaaattINSaaaaaaaaaactaaaagatt																										TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr14:31074771_31074772insA	ENST00000206595.6	+	11	1225_1226	c.1071_1072insA	c.(1072-1074)aaafs	p.K358fs	G2E3_ENST00000438909.2_Frame_Shift_Ins_p.K312fs|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.K388fs|G2E3_ENST00000544007.1_Intron	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GATTCCAAATTAAAAAAAAAAC	0.272																																																	0																																										SO:0001589	frameshift_variant	0			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.1081dupA	14.37:g.31074781_31074781dupA	ENSP00000206595:p.Lys358fs		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Frame_Shift_Ins	INS	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.T360fs	ENST00000206595.6	37	c.1071_1072	CCDS9638.1	14																																																																																			G2E3	-	superfamily_HECT	ENSG00000092140		0.272	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2		0	36	0	0	NM_017769		31074772	1			no_errors	ENST00000206595	ensembl	human	known	74_37	frame_shift_ins	9.64	75	8	INS	1.000:0.994	A	A	31074772	-	A	31074771	7	5	146	1	0	1	1	0	0	0	0	0	6164	1742	61	0	1109	0	G2E3	14	31074771	Frame_Shift_Ins	INS	-	TCGA-R6-A6Y0-01B-11D-A33E-09	6462086	31074771	76274769	225	37267											
SDCCAG1	9147	genome.wustl.edu	37	chr14	50251372	50251372	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctatttcctttttacattCagaagattgggtgcagacac	11	14	8	8	0	1	3	1	0	0	3	2	3	2	3	1	1	3	2	1	1	3	7			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr14:50251372C>G	ENST00000298310.5	-	33	3662	c.3213G>C	c.(3211-3213)ctG>ctC	p.L1071L	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Silent_p.L1050L|NEMF_ENST00000382135.2_Silent_p.L271L|NEMF_ENST00000545773.1_Silent_p.L1029L			O60524	NEMF_HUMAN	nuclear export mediator factor	1071					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						TTTTTACATTCAGAAGATTGG	0.333																																																	0													60	63	62					14																	50251372		2203	4297	6500	SO:0001819	synonymous_variant	0			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.3213G>C	14.37:g.50251372C>G			A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.L1071	ENST00000298310.5	37	c.3213	CCDS9694.1	14																																																																																			NEMF	-	NULL	ENSG00000165525		0.333	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	-	0	42	0	C	NM_004713		50251372	-1	tier1	-	no_errors	ENST00000298310	ensembl	human	known	74_37	silent	6.17	76	5	SNP	1.000	G	G	50251372	C	G	50251372	2	3	146	1	0	0	0	0	0	0	0	1	14002	813	29	5		5	SDCCAG1	14	50251372	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	19176601	50251372	57098168	226	37268											
NIN	51199	genome.wustl.edu	37	chr14	51239693	51239693	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggaaaggtgcctttttagttGtctatatggagtagatgctg	9	15	13	4	0	1	1	0	0	1	1	1	3	1	3	1	3	2	3	1	3	5	7			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr14:51239693G>T	ENST00000382041.3	-	8	977	c.787C>A	c.(787-789)Caa>Aaa	p.Q263K	NIN_ENST00000245441.5_Missense_Mutation_p.Q263K|NIN_ENST00000453196.1_Missense_Mutation_p.Q263K|NIN_ENST00000530997.2_Missense_Mutation_p.Q263K|NIN_ENST00000389868.3_Missense_Mutation_p.Q263K|NIN_ENST00000324330.9_Missense_Mutation_p.Q263K|NIN_ENST00000382043.4_Missense_Mutation_p.Q263K	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	263					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)					CTTTTTAGTTGTCTATATGGA	0.313			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													118	116	117					14																	51239693		2203	4300	6503	SO:0001583	missense	0			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.787C>A	14.37:g.51239693G>T	ENSP00000371472:p.Gln263Lys		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.Q263K	ENST00000382041.3	37	c.787	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589624	0.66105	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	D;T;D;T;D;D;T	0.95103	-3.61;-0.29;-3.61;1.92;-3.61;-3.61;1.92	4.87	4.87	0.63330	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.997;0.993;0.982	D;D;D;D;D	0.76071	0.987;0.972;0.984;0.971;0.968	D	0.95460	0.8542	10	0.39692	T	0.17	-14.4593	17.3524	0.87327	0.0:0.0:1.0:0.0	.	269;263;263;263;263	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	K	263;263;263;263;269;263;263;263;225	ENSP00000245441:Q263K;ENSP00000374518:Q263K;ENSP00000371474:Q263K;ENSP00000371472:Q263K;ENSP00000324210:Q263K;ENSP00000412391:Q263K;ENSP00000398641:Q225K	ENSP00000245441:Q263K	Q	-	1	0	NIN	50309443	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.543000	0.90651	2.398000	0.81561	0.460000	0.39030	CAA	NIN	-	NULL	ENSG00000100503		0.313	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	-	0	30	0	G	NM_182946		51239693	-1	tier1	-	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	51239693	G	T	51239693	3	4	146	1	0	0	0	0	1	0	0	0	10456	1386	48	3	5858	3	NIN	14	51239693	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	988321	51239693	56109847	227	37269											
NRXN3	9369	genome.wustl.edu	37	chr14	80328055	80328055	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttccgggggcctcagaggtGatccgggagtcgagcagcac	7	6	17	11	3	1	2	1	1	0	1	4	4	3	3	3	4	2	3	3	4	0	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr14:80328055G>C	ENST00000557594.1	+	6	2615	c.1662G>C	c.(1660-1662)gtG>gtC	p.V554V	NRXN3_ENST00000554719.1_Silent_p.V978V|NRXN3_ENST00000335750.5_Silent_p.V978V|NRXN3_ENST00000428277.2_Silent_p.V376V|NRXN3_ENST00000281127.7_Silent_p.V349V|NRXN3_ENST00000556003.1_3'UTR	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	554					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTCAGAGGTGATCCGGGAGT	0.582																																																	0													56	56	56					14																	80328055		2203	4300	6503	SO:0001819	synonymous_variant	0			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		ENST00000557594.1:c.1662G>C	14.37:g.80328055G>C			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.V978	ENST00000557594.1	37	c.2934		14																																																																																			NRXN3	-	NULL	ENSG00000021645		0.582	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	-	0	32	0	G	NM_001105250		80328055	1	tier1	-	no_errors	ENST00000335750	ensembl	human	known	74_37	silent	15.52	49	9	SNP	1.000	C	C	80328055	G	C	80328055	2	2	146	1	0	0	0	0	0	0	0	1	10706	1277	45	5		5	NRXN3	14	80328055	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	29088362	80328055	27021485	228	37270											
C14orf49	161176	genome.wustl.edu	37	chr14	95906111	95906111	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	cctccttctccgggaattctGccaccagcctctaaaggaca	9	9	7	16	1	3	0	0	0	3	0	5	2	4	2	6	2	2	0	6	2	3	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr14:95906111G>A	ENST00000334258.5	-	12	2098	c.2084C>T	c.(2083-2085)gCa>gTa	p.A695V	SYNE3_ENST00000554873.1_Missense_Mutation_p.A452V|SYNE3_ENST00000557275.1_Missense_Mutation_p.A695V	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	695					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						CGGGAATTCTGCCACCAGCCT	0.617																																																	0													38	41	40					14																	95906111		2203	4300	6503	SO:0001583	missense	0			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.2084C>T	14.37:g.95906111G>A	ENSP00000334308:p.Ala695Val		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.A695V	ENST00000334258.5	37	c.2084	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844803	0.71603	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.55588	0.51;0.51;0.51	5.34	2.34	0.29019	.	0.370391	0.19615	N	0.110060	T	0.61223	0.2330	M	0.71581	2.175	0.42806	D	0.993941	P;P	0.49358	0.905;0.923	P;P	0.54100	0.53;0.742	T	0.61917	-0.6964	10	0.54805	T	0.06	-1.6909	9.6137	0.39679	0.0:0.1366:0.5809:0.2825	.	695;695	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	V	695;452;695	ENSP00000334308:A695V;ENSP00000452154:A452V;ENSP00000450562:A695V	ENSP00000334308:A695V	A	-	2	0	C14orf49	94975864	0.906000	0.30813	0.524000	0.27887	0.935000	0.57460	1.320000	0.33666	0.604000	0.29930	0.561000	0.74099	GCA	SYNE3	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000176438		0.617	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	-	0	42	0	G	NM_152592		95906111	-1	tier1	-	no_errors	ENST00000334258	ensembl	human	known	74_37	missense	11.83	82	11	SNP	0.480	A	A	95906111	G	A	95906111	3	1	146	1	0	0	0	0	1	0	0	0	1781	1319	46	3	867	3	C14orf49	14	95906111	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	15578056	95906111	11443429	229	37271											
DLK1	8788	genome.wustl.edu	37	chr14	101200909	101200909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggggtgcacgagctgccGgtgcagcagccggagcaccg	6	4	17	14	4	0	0	0	0	0	0	0	2	0	1	4	4	7	5	4	4	0	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr14:101200909G>A	ENST00000341267.4	+	5	1070	c.828G>A	c.(826-828)ccG>ccA	p.P276P	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	276					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				ACGAGCTGCCGGTGCAGCAGC	0.652																																																	0													43	48	46					14																	101200909		2203	4300	6503	SO:0001819	synonymous_variant	0			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.828G>A	14.37:g.101200909G>A			P15803|Q96DW5	Silent	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P276	ENST00000341267.4	37	c.828	CCDS9963.1	14																																																																																			DLK1	-	NULL	ENSG00000185559		0.652	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLK1	HGNC	protein_coding	OTTHUMT00000414389.1	-	0	48	0	G			101200909	1	tier1	-	no_errors	ENST00000341267	ensembl	human	known	74_37	silent	19.23	42	10	SNP	0.001	A	A	101200909	G	A	101200909	2	1	146	1	0	0	0	0	0	0	0	1	4578	1103	39	1		1	DLK1	14	101200909	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	5294798	101200909	6148631	230	37272											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102452280	102452280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgccttcgggatcagcttgGcacagccaagaatgccaacg	10	7	11	13	3	1	1	1	0	0	1	3	2	1	2	3	2	4	2	3	2	3	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr14:102452280G>C	ENST00000360184.4	+	8	1882	c.1718G>C	c.(1717-1719)gGc>gCc	p.G573A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	573	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						GATCAGCTTGGCACAGCCAAG	0.547																																																	0													74	70	72					14																	102452280		2203	4300	6503	SO:0001583	missense	0			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.1718G>C	14.37:g.102452280G>C	ENSP00000348965:p.Gly573Ala		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.G573A	ENST00000360184.4	37	c.1718	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376317	0.24857	.	.	ENSG00000197102	ENST00000360184	T	0.54071	0.59	5.85	5.85	0.93711	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	L	0.52573	1.65	0.80722	D	1	P	0.49307	0.922	P	0.48598	0.583	T	0.47328	-0.9126	10	0.07644	T	0.81	.	20.155	0.98106	0.0:0.0:1.0:0.0	.	573	Q14204	DYHC1_HUMAN	A	573	ENSP00000348965:G573A	ENSP00000348965:G573A	G	+	2	0	DYNC1H1	101522033	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.471000	0.97696	2.760000	0.94817	0.655000	0.94253	GGC	DYNC1H1	-	pfam_Dynein_heavy_dom-1	ENSG00000197102		0.547	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	33	0	G	NM_001376		102452280	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	C	C	102452280	G	C	102452280	3	2	146	1	0	0	0	0	1	0	0	0	4855	1203	42	5	1748	5	DYNC1H1	14	102452280	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1251371	102452280	4897260	231	37273											
ASPG	374569	genome.wustl.edu	37	chr14	104558980	104558980	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcagtgcttgtgccCgggacgggcctggctgccat	3	9	15	14	2	0	0	0	0	0	0	0	1	0	1	4	3	5	3	4	3	0	1	rs374729572		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr14:104558980C>T	ENST00000551177.1	+	2	185	c.93C>T	c.(91-93)ccC>ccT	p.P31P	ASPG_ENST00000455920.2_Silent_p.P31P|ASPG_ENST00000546892.2_Silent_p.P31P	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	31	Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGCTTGTGCCCGGGACGGGCC	0.677													C|||	1	0.000199681	8e-04	0	5008	,	,		16983	0		0	False		,,,				2504	0																0								C		5,4061		0,5,2028	14	20	18		93	-8.7	0	14		18	0,7966		0,0,3983	no	coding-synonymous	ASPG	NM_001080464.2		0,5,6011	TT,TC,CC		0.0,0.123,0.0416		31/574	104558980	5,12027	2033	3983	6016	SO:0001819	synonymous_variant	0				CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.93C>T	14.37:g.104558980C>T			B9EGQ2|Q8IV80	Silent	SNP	pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI	p.P31	ENST00000551177.1	37	c.93	CCDS45170.2	14																																																																																			ASPG	-	pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI	ENSG00000166183		0.677	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPG	HGNC	protein_coding	OTTHUMT00000407005.1		0	44	0	C	NM_001080464		104558980	1			no_errors	ENST00000455920	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.006	T	T	104558980	C	T	104558980	2	4	146	1	0	0	0	0	0	0	0	1	1053	639	23	1		1	ASPG	14	104558980	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	2106700	104558980	2790560	232	37274											
FAM82A2	55177	genome.wustl.edu	37	chr15	41036287	41036287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctcacctcctcagtgaGctcacacatgtcactgtagg	8	10	8	15	1	4	1	4	1	0	0	6	1	5	1	2	1	1	3	2	1	1	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr15:41036287G>A	ENST00000260385.6	-	5	1935	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F	RMDN3_ENST00000558560.1_Intron|RMDN3_ENST00000338376.3_Missense_Mutation_p.L290F			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	290					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TCCTCAGTGAGCTCACACATG	0.572																																																	0													116	101	106					15																	41036287		2203	4300	6503	SO:0001583	missense	0			AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.868C>T	15.37:g.41036287G>A	ENSP00000260385:p.Leu290Phe		A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	NULL	p.L290F	ENST00000260385.6	37	c.868	CCDS10063.1	15	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475798	0.84640	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.51574	0.7;0.7	6.17	6.17	0.99709	.	0.344337	0.30159	N	0.010266	T	0.50394	0.1613	L	0.55017	1.72	0.35158	D	0.770371	D	0.54047	0.964	P	0.48795	0.59	T	0.57359	-0.7825	10	0.28530	T	0.3	-9.346	13.509	0.61499	0.0:0.0:0.7495:0.2505	.	290	Q96TC7	RMD3_HUMAN	F	290;290;227	ENSP00000260385:L290F;ENSP00000342493:L290F	ENSP00000260385:L290F	L	-	1	0	FAM82A2	38823579	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.996000	0.49449	2.941000	0.99782	0.655000	0.94253	CTC	RMDN3	-	NULL	ENSG00000137824		0.572	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMDN3	HGNC	protein_coding	OTTHUMT00000252357.1	-	0	35	0	G	NM_018145		41036287	-1	tier1	-	no_errors	ENST00000260385	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.976	A	A	41036287	G	A	41036287	3	1	146	1	0	0	0	0	1	0	0	0	5653	971	34	3	576	3	FAM82A2	15	41036287	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09		41036287	61495105	233	37275											
VPS18	57617	genome.wustl.edu	37	chr15	41192668	41192668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagctgctcgccagtcatgGggacacagaacacatggtgt	10	8	13	10	1	1	2	1	1	0	1	2	3	1	3	1	3	3	2	1	3	1	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr15:41192668G>T	ENST00000220509.5	+	4	1991	c.1652G>T	c.(1651-1653)gGg>gTg	p.G551V	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	551					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)		GCCAGTCATGGGGACACAGAA	0.582																																																	0													129	134	132					15																	41192668		2203	4300	6503	SO:0001583	missense	0			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.1652G>T	15.37:g.41192668G>T	ENSP00000220509:p.Gly551Val		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.G551V	ENST00000220509.5	37	c.1652	CCDS10069.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027737	0.75390	.	.	ENSG00000104142	ENST00000220509	T	0.26810	1.71	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70502	-0.4854	10	0.87932	D	0	-46.3739	20.0212	0.97504	0.0:0.0:1.0:0.0	.	551	Q9P253	VPS18_HUMAN	V	551	ENSP00000220509:G551V	ENSP00000220509:G551V	G	+	2	0	VPS18	38979960	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	9.869000	0.99810	2.735000	0.93741	0.561000	0.74099	GGG	VPS18	-	superfamily_ARM-type_fold	ENSG00000104142		0.582	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2		0	32	0	G			41192668	1			no_errors	ENST00000220509	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T	T	41192668	G	T	41192668	3	4	146	1	0	0	0	0	1	0	0	0	17243	1232	43	3	1666	3	VPS18	15	41192668	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	156381	41192668	61338724	234	37276											
TMEM87A	25963	genome.wustl.edu	37	chr15	42560178	42560178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcattgtaacaatcagcGcttttcagataccaggttat	12	15	6	8	1	3	1	3	0	0	1	3	1	3	1	1	1	3	3	1	1	4	7	rs372515263		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr15:42560178G>T	ENST00000389834.4	-	3	522	c.258C>A	c.(256-258)agC>agA	p.S86R	TMEM87A_ENST00000448392.1_Missense_Mutation_p.S25R|TMEM87A_ENST00000307216.6_Missense_Mutation_p.S86R|TMEM87A_ENST00000568432.1_5'UTR	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	86						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)		AACAATCAGCGCTTTTCAGAT	0.328																																																	0													99	98	99					15																	42560178		2202	4299	6501	SO:0001583	missense	0			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.258C>A	15.37:g.42560178G>T	ENSP00000374484:p.Ser86Arg		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.S86R	ENST00000389834.4	37	c.258	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006403	0.54361	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	4.88	2.6	0.31112	.	0.197188	0.45867	D	0.000335	T	0.34337	0.0894	N	0.19112	0.55	0.35201	D	0.774306	P;P;P	0.50819	0.538;0.842;0.939	B;B;P	0.48114	0.168;0.419;0.567	T	0.43877	-0.9364	9	0.49607	T	0.09	-6.6306	5.8701	0.18799	0.795:0.0:0.205:0.0	.	86;25;86	Q8NBN3;Q8NBN3-3;Q8NBN3-2	TM87A_HUMAN;.;.	R	86;25;62;86	.	ENSP00000305894:S86R	S	-	3	2	TMEM87A	40347470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.523000	0.35932	0.993000	0.38866	-0.339000	0.08088	AGC	TMEM87A	-	NULL	ENSG00000103978		0.328	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2		0	26	0	G	NM_015497		42560178	-1			no_errors	ENST00000389834	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	42560178	G	T	42560178	3	4	146	1	0	0	0	0	1	0	0	0	16257	1078	38	2	1527	2	TMEM87A	15	42560178	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1367510	42560178	59971214	235	37277											
PRTG	283659	genome.wustl.edu	37	chr15	55912219	55912219	+	Frame_Shift_Del	DEL	G	G	-																															cagtgaaagaatcagaggttGgggggtgtggtacttataac																								rs370777308		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr15:55912219delG	ENST00000389286.4	-	20	3491	c.3444delC	c.(3442-3444)cccfs	p.P1148fs		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATCAGAGGTTGGGGGGTGTGG	0.493																																																	0													64	64	64					15																	55912219		1926	4145	6071	SO:0001589	frameshift_variant	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3444delC	15.37:g.55912219delG	ENSP00000373937:p.Pro1148fs			Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N1149fs	ENST00000389286.4	37	c.3444	CCDS42040.1	15																																																																																			PRTG	-	NULL	ENSG00000166450		0.493	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1		0	59	0	G	NM_173814		55912219	-1	tier1		no_errors	ENST00000389286	ensembl	human	known	74_37	frame_shift_del	16.25	67	13	DEL	0.181	-	-	55912219	G	-	55912219	7	5	146	1	0	1	0	1	0	0	0	0	12680	1335	47	0	12	0	PRTG	15	55912219	Frame_Shift_Del	DEL	G	TCGA-R6-A6Y0-01B-11D-A33E-09	13352041	55912219	46619173	236	37278											
ANXA2	302	genome.wustl.edu	37	chr15	60644625	60644625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgctcggtcatgatgctgatCcacttgggaacatcagttcc	8	11	10	12	2	2	2	2	2	0	0	5	3	4	3	2	2	2	3	2	2	1	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr15:60644625C>G	ENST00000396024.3	-	10	798	c.639G>C	c.(637-639)tgG>tgC	p.W213C	ANXA2_ENST00000421017.2_Missense_Mutation_p.W213C|ANXA2_ENST00000451270.2_Missense_Mutation_p.W213C|ANXA2_ENST00000332680.4_Missense_Mutation_p.W231C	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	213					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	TGATGCTGATCCACTTGGGAA	0.557																																																	0													61	54	56					15																	60644625		2203	4298	6501	SO:0001583	missense	0			D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"Annexins"	537	protein-coding gene	gene with protein product	"annexin II"	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.639G>C	15.37:g.60644625C>G	ENSP00000379342:p.Trp213Cys		Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinII,prints_AnnexinV	p.W231C	ENST00000396024.3	37	c.693	CCDS10175.1	15	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605420	0.87157	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270;ENST00000504475	T;T;T;T	0.03301	3.98;3.98;3.98;3.98	6.03	6.03	0.97812	Annexin repeat, conserved site (1);	0.000000	0.85682	U	0.000000	T	0.22820	0.0551	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.984;0.997	T	0.00051	-1.2193	10	0.87932	D	0	.	19.3381	0.94329	0.0:1.0:0.0:0.0	.	231;213	P07355-2;P07355	.;ANXA2_HUMAN	C	213;231;213;213;96	ENSP00000379342:W213C;ENSP00000346032:W231C;ENSP00000411352:W213C;ENSP00000387545:W213C	ENSP00000346032:W231C	W	-	3	0	ANXA2	58431917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.086000	0.76885	2.854000	0.98071	0.655000	0.94253	TGG	ANXA2	-	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin	ENSG00000182718		0.557	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA2	HGNC	protein_coding	OTTHUMT00000256135.1	-	0	44	0	C	NM_001002857		60644625	-1	tier1	-	no_errors	ENST00000332680	ensembl	human	known	74_37	missense	17.14	29	6	SNP	1.000	G	G	60644625	C	G	60644625	3	3	146	1	0	0	0	0	1	0	0	0	718	856	30	5	400	5	ANXA2	15	60644625	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	4732406	60644625	41886767	237	37279											
HERC1	8925	genome.wustl.edu	37	chr15	64066900	64066900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatagtacgtaccaaagaaCgcctcatctgcattaatatg	14	12	6	9	2	2	1	1	0	1	1	2	1	2	1	2	0	4	3	2	0	8	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr15:64066900C>T	ENST00000443617.2	-	2	1010	c.923G>A	c.(922-924)cGt>cAt	p.R308H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	308					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						TACCAAAGAACGCCTCATCTG	0.368																																																	0													61	56	58					15																	64066900		1892	4119	6011	SO:0001583	missense	0			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.923G>A	15.37:g.64066900C>T	ENSP00000390158:p.Arg308His		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R308H	ENST00000443617.2	37	c.923	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662374	0.88251	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.25414	1.8	5.43	5.43	0.79202	.	0.000000	0.64402	U	0.000001	T	0.37461	0.1004	L	0.44542	1.39	0.80722	D	1	D;D;D	0.63880	0.99;0.993;0.983	P;P;P	0.52710	0.707;0.544;0.513	T	0.04216	-1.0968	10	0.52906	T	0.07	.	19.6166	0.95636	0.0:1.0:0.0:0.0	.	308;308;308	B4DKS2;C9JUT5;Q15751	.;.;HERC1_HUMAN	H	308	ENSP00000390158:R308H	ENSP00000389613:R308H	R	-	2	0	HERC1	61853953	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.873000	0.69644	2.721000	0.93114	0.655000	0.94253	CGT	HERC1	-	NULL	ENSG00000103657		0.368	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	41	0	C	NM_003922		64066900	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	9.23	58	6	SNP	1.000	T	T	64066900	C	T	64066900	3	4	146	1	0	0	0	0	1	0	0	0	7084	536	19	1	13970	1	HERC1	15	64066900	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	3422275	64066900	38464492	238	37280											
CALML4	91860	genome.wustl.edu	37	chr15	68486374	68486374	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatagtcccgtccaggaagGgtgatcttgtggataaattc	11	11	11	8	1	1	1	0	1	1	0	4	3	3	3	2	3	0	0	2	3	5	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr15:68486374G>T	ENST00000467889.1	-	5	754	c.570C>A	c.(568-570)acC>acA	p.T190T	CALML4_ENST00000395465.3_3'UTR|CALML4_ENST00000448060.2_Silent_p.T143T|RP11-315D16.2_ENST00000562767.1_3'UTR|CALML4_ENST00000540479.1_Silent_p.T114T	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	190	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						GTCCAGGAAGGGTGATCTTGT	0.398																																																	0													119	99	106					15																	68486374		2200	4298	6498	SO:0001819	synonymous_variant	0			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.570C>A	15.37:g.68486374G>T			B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	Silent	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.T190	ENST00000467889.1	37	c.570	CCDS10226.2	15																																																																																			CALML4	-	smart_EF_hand_dom	ENSG00000129007		0.398	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALML4	HGNC	protein_coding	OTTHUMT00000257067.3	-	0	50	0	G	NM_033429		68486374	-1	tier1	-	no_errors	ENST00000467889	ensembl	human	known	74_37	silent	6.17	76	5	SNP	0.938	T	T	68486374	G	T	68486374	2	4	146	1	0	0	0	0	0	0	0	1	2595	1219	43	3		3	CALML4	15	68486374	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	4419474	68486374	34045018	239	37281											
PCSK6	5046	genome.wustl.edu	37	chr15	101971641	101971641	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacattcatttccgaccGgcagcgactgttcttgtcgc	6	12	10	13	4	2	0	1	0	1	0	4	3	3	1	2	2	1	2	2	2	0	4	rs376291078		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr15:101971641G>T	ENST00000348070.1	-	5	537	c.538C>A	c.(538-540)Cgg>Agg	p.R180R	PCSK6_ENST00000398181.2_Silent_p.R180R|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Silent_p.R180R|PCSK6_ENST00000331826.7_Silent_p.R15R|PCSK6_ENST00000358417.3_Silent_p.R180R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	181					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.R180W(3)|p.R15W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTTCCGACCGGCAGCGACTG	0.527																																																	4	Substitution - Missense(4)	lung(4)											62	63	63					15																	101971641		2079	4215	6294	SO:0001819	synonymous_variant	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.538C>A	15.37:g.101971641G>T			Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.R180	ENST00000348070.1	37	c.538		15																																																																																			PCSK6	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000140479		0.527	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		-	0	41	0	G	NM_002570		101971641	-1	tier1	-	no_errors	ENST00000348070	ensembl	human	known	74_37	silent	7.69	60	5	SNP	0.998	T	T	101971641	G	T	101971641	2	4	146	1	0	0	0	0	0	0	0	1	11643	1115	39	2		2	PCSK6	15	101971641	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	33485267	101971641	559751	240	37282											
SOLH	6650	genome.wustl.edu	37	chr16	602930	602930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcatcgtggtggtggagaAccgacaccccaaggcctacc	9	6	12	14	2	1	1	1	0	0	1	2	3	1	1	5	4	2	1	5	4	3	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr16:602930A>G	ENST00000219611.2	+	13	3335	c.2972A>G	c.(2971-2973)aAc>aGc	p.N991S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	991					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)										GTGGTGGAGAACCGACACCCC	0.642																																																	0													88	80	83					16																	602930		2199	4298	6497	SO:0001583	missense	0			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.2972A>G	16.37:g.602930A>G	ENSP00000219611:p.Asn991Ser		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.N991S	ENST00000219611.2	37	c.2972	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	a	17.61	3.432887	0.62844	.	.	ENSG00000103326	ENST00000219611	D	0.93189	-3.18	4.78	4.78	0.61160	.	0.000000	0.64402	U	0.000003	D	0.95928	0.8674	M	0.73217	2.22	0.58432	D	0.999998	D	0.71674	0.998	D	0.77004	0.989	D	0.96306	0.9225	10	0.87932	D	0	.	13.5599	0.61782	1.0:0.0:0.0:0.0	.	991	O75808	CAN15_HUMAN	S	991	ENSP00000219611:N991S	ENSP00000219611:N991S	N	+	2	0	SOLH	542931	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	7.113000	0.77095	2.133000	0.65898	0.454000	0.30748	AAC	CAPN15	-	NULL	ENSG00000103326		0.642	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	HGNC	protein_coding	OTTHUMT00000239271.1	-	0	35	0	A	NM_005632		602930	1	tier1	-	no_errors	ENST00000219611	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	G	G	602930	A	G	602930	3	3	146	1	0	0	0	0	1	0	0	0	14970	43	2	4	3010	4	SOLH	16	602930	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09		602930	89751823	241	37283											
VWA3A	146177	genome.wustl.edu	37	chr16	22159581	22159581	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagcaggtgaagacaGagctggttttgctgatttgg	9	11	14	7	0	0	4	0	2	0	2	0	4	0	4	1	3	4	5	1	3	1	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr16:22159581G>T	ENST00000389398.5	+	28	3034	c.2938G>T	c.(2938-2940)Gag>Tag	p.E980*	VWA3A_ENST00000563755.1_Nonsense_Mutation_p.E82*|VWA3A_ENST00000389397.4_Nonsense_Mutation_p.E82*	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	980	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGTGAAGACAGAGCTGGTTTT	0.572																																																	0													66	66	66					16																	22159581		1970	4165	6135	SO:0001587	stop_gained	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2938G>T	16.37:g.22159581G>T	ENSP00000374049:p.Glu980*		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Nonsense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E980*	ENST00000389398.5	37	c.2938	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422856	0.83559	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	.	.	.	5.1	5.1	0.69264	.	0.300232	0.31233	N	0.008010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.4323	0.83853	0.0:0.0:1.0:0.0	.	.	.	.	X	980;82;603	.	ENSP00000299840:E603X	E	+	1	0	VWA3A	22067082	1.000000	0.71417	0.982000	0.44146	0.659000	0.38960	5.542000	0.67218	2.539000	0.85634	0.650000	0.86243	GAG	VWA3A	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000175267		0.572	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	-	0	61	0	G			22159581	1	tier1	-	no_errors	ENST00000389398	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	T	T	22159581	G	T	22159581	4	4	146	1	0	0	0	0	0	1	0	0	17289	943	33	3	3048	3	VWA3A	16	22159581	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	21556651	22159581	68195172	242	37284											
CHP2	63928	genome.wustl.edu	37	chr16	23767768	23767768	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccaggcatgagatgctgCaggttggcagaaagcgagag	11	7	15	8	1	1	3	0	1	1	3	2	5	1	3	1	3	3	5	1	3	1	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr16:23767768C>T	ENST00000300113.2	+	5	835	c.412C>T	c.(412-414)Cag>Tag	p.Q138*		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	138	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)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TGAGATGCTGCAGGTTGGCAG	0.537																																																	0													88	70	76					16																	23767768		2197	4300	6497	SO:0001587	stop_gained	0				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.412C>T	16.37:g.23767768C>T	ENSP00000300113:p.Gln138*		A8K2I8	Nonsense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.Q138*	ENST00000300113.2	37	c.412	CCDS10617.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.706326	0.96821	.	.	ENSG00000166869	ENST00000300113	.	.	.	3.67	3.67	0.42095	.	0.076227	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-27.8216	13.6905	0.62542	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000300113:Q138X	Q	+	1	0	AC130454.2	23675269	0.996000	0.38824	0.973000	0.42090	0.270000	0.26580	3.493000	0.53266	2.333000	0.79357	0.591000	0.81541	CAG	CHP2	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000166869		0.537	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP2	HGNC	protein_coding	OTTHUMT00000254498.1		0	18	0	C	NM_022097		23767768	1			no_errors	ENST00000300113	ensembl	human	known	74_37	nonsense	12.90	27	4	SNP	0.997	T	T	23767768	C	T	23767768	4	4	146	1	0	0	0	0	0	1	0	0	3374	711	25	3	430	3	CHP2	16	23767768	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	1608187	23767768	66586985	243	37285											
PRRT2	112476	genome.wustl.edu	37	chr16	29824421	29824421	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgagatgaagggggttgagGagagtcccaaggttccaggc	10	7	17	7	0	0	4	0	3	0	2	2	6	2	4	2	5	0	2	2	5	2	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr16:29824421G>T	ENST00000358758.7	+	2	329	c.46G>T	c.(46-48)Gag>Tag	p.E16*	PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000567659.1_Nonsense_Mutation_p.E16*|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000300797.6_Nonsense_Mutation_p.E16*	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	16					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						GGGGGTTGAGGAGAGTCCCAA	0.602																																																	0													50	53	52					16																	29824421		2197	4300	6497	SO:0001587	stop_gained	0			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.46G>T	16.37:g.29824421G>T	ENSP00000351608:p.Glu16*		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Nonsense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.E16*	ENST00000358758.7	37	c.46	CCDS10654.1	16	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556959	0.65425	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	.	.	.	4.25	3.29	0.37713	.	0.543878	0.15817	N	0.243205	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.2356	7.7643	0.28970	0.1149:0.0:0.8851:0.0	.	.	.	.	X	16	.	ENSP00000300797:E16X	E	+	1	0	PRRT2	29731922	0.016000	0.18221	0.211000	0.23655	0.782000	0.44232	0.811000	0.27198	1.158000	0.42547	0.563000	0.77884	GAG	PRRT2	-	NULL	ENSG00000167371		0.602	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT2	HGNC	protein_coding	OTTHUMT00000255161.3	-	0	52	0	G	NM_145239		29824421	1	tier1	-	no_errors	ENST00000567659	ensembl	human	known	74_37	nonsense	7.69	60	5	SNP	0.416	T	T	29824421	G	T	29824421	4	4	146	1	0	0	0	0	0	1	0	0	12652	1175	41	3	48	3	PRRT2	16	29824421	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	6056653	29824421	60530332	244	37286											
ORAI3	93129	genome.wustl.edu	37	chr16	30964759	30964759	+	Missense_Mutation	SNP	T	T	A	0	1	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	cactgccctgggcacctttcTcttccttgctgaagttgtcc	4	14	8	15	0	1	1	0	1	1	0	4	1	3	1	4	1	2	3	4	1	1	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr16:30964759T>A	ENST00000318663.4	+	2	706	c.482T>A	c.(481-483)cTc>cAc	p.L161H	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Missense_Mutation_p.L161H|ORAI3_ENST00000562699.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	161					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						GGCACCTTTCTCTTCCTTGCT	0.607											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													134	148	144					16																	30964759		2197	4300	6497	SO:0001583	missense	0			BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"ORAI calcium release-activated calcium modulators"	28185	protein-coding gene	gene with protein product		610930	"transmembrane protein 142C"	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.482T>A	16.37:g.30964759T>A	ENSP00000322249:p.Leu161His	821	Q96BI8	Missense_Mutation	SNP	pfam_CRAC_channel	p.L161H	ENST00000318663.4	37	c.482	CCDS10697.1	16	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664991	0.88251	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.55052	0.54	5.74	5.74	0.90152	.	0.000000	0.51477	D	0.000082	T	0.72503	0.3468	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76099	-0.3083	10	0.87932	D	0	-13.5276	15.0151	0.71578	0.0:0.0:0.0:1.0	.	161	Q9BRQ5	ORAI3_HUMAN	H	161	ENSP00000322249:L161H	ENSP00000322249:L161H	L	+	2	0	ORAI3	30872260	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.196000	0.70406	0.528000	0.53228	CTC	ORAI3	-	pfam_CRAC_channel	ENSG00000175938		0.607	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI3	HGNC	protein_coding	OTTHUMT00000255545.20	-	0	33	0	T	NM_152288		30964759	1	tier1	-	no_errors	ENST00000318663	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	A	A	30964759	T	A	30964759	3	1	146	1	0	0	0	0	1	0	0	0	11298	1551	54	5	488	5	ORAI3	16	30964759	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	1140338	30964759	59389994	245	37287											
SLC5A2	6524	genome.wustl.edu	37	chr16	31497501	31497501	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctcccccaaggtggacatgtTctccggagctgtattcatcc	7	11	9	14	1	2	0	1	0	1	0	5	2	4	2	4	3	1	3	4	3	2	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr16:31497501T>C	ENST00000330498.3	+	5	498	c.479T>C	c.(478-480)tTc>tCc	p.F160S	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	160					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)	GTGGACATGTTCTCCGGAGCT	0.597																																																	0													99	80	86					16																	31497501		2197	4300	6497	SO:0001583	missense	0				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.479T>C	16.37:g.31497501T>C	ENSP00000327943:p.Phe160Ser		A2RRD2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.F160S	ENST00000330498.3	37	c.479	CCDS10714.1	16	.	.	.	.	.	.	.	.	.	.	T	19.29	3.798635	0.70567	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.88664	-2.41;-2.41	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	M	0.87827	2.91	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.95310	0.8411	10	0.87932	D	0	.	12.8424	0.57811	0.0:0.0:0.0:1.0	.	160	P31639	SC5A2_HUMAN	S	160	ENSP00000327943:F160S;ENSP00000410601:F160S	ENSP00000327943:F160S	F	+	2	0	SLC5A2	31405002	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.286000	0.51724	2.128000	0.65567	0.459000	0.35465	TTC	SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000140675		0.597	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	-	0	36	0	T			31497501	1	tier1	-	no_errors	ENST00000330498	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	C	C	31497501	T	C	31497501	3	2	146	1	0	0	0	0	1	0	0	0	14710	1783	62	4	497	4	SLC5A2	16	31497501	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	532742	31497501	58857252	246	37288											
CNOT1	23019	genome.wustl.edu	37	chr16	58577315	58577316	+	Intron	INS	-	-	A																															tcgtgttgagaatataacagINSaaaaaaaaaaaaacacacag																								rs192650861|rs74558612|rs201890659|rs5817153	byFrequency	TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr16:58577315_58577316insA	ENST00000317147.5	-	31	4767				CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.L1544fs|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		gaatataacagaaaaaaaaaaa	0.277																																																	0																																										SO:0001627	intron_variant	0			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.4434+194->T	16.37:g.58577326_58577326dupA			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.L1543fs	ENST00000317147.5	37	c.4630_4629	CCDS10799.1	16																																																																																			CNOT1	-	NULL	ENSG00000125107		0.277	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3		0	47	0	-	NM_016284		58577316	-1	tier1		no_errors	ENST00000441024	ensembl	human	known	74_37	frame_shift_ins	12.00	44	6	INS	0.004:0.000	A	A	58577316	-	A	58577315	6	5	146	0	1	1	1	0	0	0	0	0	3624	933	33	0		0	CNOT1	16	58577315	Intron	INS	-	TCGA-R6-A6Y0-01B-11D-A33E-09	27079814	58577315	31777438	247	37289											
CNOT1	23019	genome.wustl.edu	37	chr16	58580275	58580275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttgacatctttctttGgagcagagagttgctcatct	7	15	10	9	0	4	2	1	1	3	1	4	4	4	3	0	1	3	5	0	1	0	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr16:58580275G>T	ENST00000317147.5	-	29	4288	c.3956C>A	c.(3955-3957)cCa>cAa	p.P1319Q	CNOT1_ENST00000441024.2_Missense_Mutation_p.P1319Q|SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Missense_Mutation_p.P170Q|CNOT1_ENST00000569240.1_Missense_Mutation_p.P1314Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1319	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCTTTCTTTGGAGCAGAGAG	0.428																																																	0													159	141	147					16																	58580275		2198	4300	6498	SO:0001583	missense	0			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.3956C>A	16.37:g.58580275G>T	ENSP00000320949:p.Pro1319Gln		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.P1319Q	ENST00000317147.5	37	c.3956	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.208484	0.95069	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.48201	0.83;0.82	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.76494	0.981;0.999;0.987;0.996	D;D;P;P	0.83275	0.932;0.996;0.67;0.906	T	0.62534	-0.6834	10	0.13470	T	0.59	.	19.1572	0.93516	0.0:0.0:1.0:0.0	.	170;1319;1319;1314	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	Q	1319;170;1314;1319	ENSP00000320949:P1319Q;ENSP00000413113:P1319Q	ENSP00000245138:P170Q	P	-	2	0	CNOT1	57137776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.526000	0.85167	0.650000	0.86243	CCA	CNOT1	-	NULL	ENSG00000125107		0.428	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	-	0	60	0	G	NM_016284		58580275	-1	tier1	-	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	58580275	G	T	58580275	3	4	146	1	0	0	0	0	1	0	0	0	3624	1348	47	3	3480	3	CNOT1	16	58580275	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	2960	58580275	31774478	248	37290											
TMCO7	79613	genome.wustl.edu	37	chr16	68912159	68912159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagccagtgttagctcctCttcatcgatgtttgaataca	9	14	7	11	1	2	1	1	1	1	0	5	2	4	1	3	0	3	3	3	0	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr16:68912159C>A	ENST00000261778.1	+	6	1282	c.1270C>A	c.(1270-1272)Ctt>Att	p.L424I		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	424						integral component of membrane (GO:0016021)											GTTAGCTCCTCTTCATCGATG	0.428																																																	0													78	76	77					16																	68912159		2060	4208	6268	SO:0001583	missense	0				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.1270C>A	16.37:g.68912159C>A	ENSP00000261778:p.Leu424Ile		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.L424I	ENST00000261778.1	37	c.1270	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017096	0.35606	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.49	2.06	0.26882	.	.	.	.	.	T	0.38188	0.1031	L	0.41236	1.265	0.35905	D	0.830689	B	0.17465	0.022	B	0.17433	0.018	T	0.42275	-0.9461	8	0.39692	T	0.17	-4.6178	4.7356	0.12986	0.1992:0.5872:0.1283:0.0852	.	424	Q9C0B7	TMCO7_HUMAN	I	424	.	ENSP00000261778:L424I	L	+	1	0	TMCO7	67469660	0.992000	0.36948	0.989000	0.46669	0.920000	0.55202	1.492000	0.35594	1.337000	0.45525	-0.136000	0.14681	CTT	TANGO6	-	NULL	ENSG00000103047		0.428	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	HGNC	protein_coding	OTTHUMT00000433471.2	-	0	80	0	C	XM_928235.2		68912159	1	tier1	-	no_errors	ENST00000261778	ensembl	human	known	74_37	missense	19.80	81	20	SNP	0.973	A	A	68912159	C	A	68912159	3	1	146	1	0	0	0	0	1	0	0	0	16048	913	32	3	1292	3	TMCO7	16	68912159	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	10331884	68912159	21442594	249	37291											
CIRH1A	84916	genome.wustl.edu	37	chr16	69184518	69184518	+	Missense_Mutation	SNP	A	A	C	1	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	tccctgtgacatctaacagcAgtgagaagcagtgggtgcgg	10	8	14	9	1	1	2	0	2	1	1	2	3	2	2	1	2	4	2	1	2	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr16:69184518A>C	ENST00000314423.7	+	7	994	c.817A>C	c.(817-819)Agt>Cgt	p.S273R	CIRH1A_ENST00000352319.4_Missense_Mutation_p.S273R|CIRH1A_ENST00000563094.1_Missense_Mutation_p.S273R|CIRH1A_ENST00000569615.2_3'UTR			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	273					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)		ATCTAACAGCAGTGAGAAGCA	0.537											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(69;1156 1278 4951 8715 52012)												0													136	122	127					16																	69184518		2198	4300	6498	SO:0001583	missense	0			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.817A>C	16.37:g.69184518A>C	ENSP00000327179:p.Ser273Arg	1112	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S273R	ENST00000314423.7	37	c.817	CCDS10872.1	16	.	.	.	.	.	.	.	.	.	.	A	9.107	1.005541	0.19199	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.35605	1.53;1.3	5.86	3.51	0.40186	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.478000	0.03077	N	0.157959	T	0.26011	0.0634	L	0.33189	0.99	0.25198	N	0.990073	P;B;B	0.37688	0.605;0.017;0.004	B;B;B	0.33960	0.173;0.02;0.006	T	0.21827	-1.0234	10	0.27082	T	0.32	.	2.646	0.04984	0.5741:0.1248:0.0739:0.2272	.	273;273;273	Q969X6-2;Q969X6;Q969X6-3	.;CIR1A_HUMAN;.	R	273	ENSP00000327179:S273R;ENSP00000339164:S273R	ENSP00000327179:S273R	S	+	1	0	CIRH1A	67742019	0.005000	0.15991	0.801000	0.32222	0.869000	0.49853	0.169000	0.16641	1.052000	0.40392	0.416000	0.27883	AGT	CIRH1A	-	superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom	ENSG00000141076		0.537	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIRH1A	HGNC	protein_coding	OTTHUMT00000268950.2	-	0	46	0	A	NM_032830		69184518	1	tier1	-	no_errors	ENST00000314423	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.204	C	C	69184518	A	C	69184518	3	2	146	1	0	0	0	0	1	0	0	0	3441	188	7	4	839	4	CIRH1A	16	69184518	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	272359	69184518	21170235	250	37292											
PLCG2	5336	genome.wustl.edu	37	chr16	81965160	81965160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcctggagcccaagcaGcagggcgatcctccggtgga	8	7	13	13	2	1	0	1	0	0	0	4	3	4	2	4	4	3	2	4	4	1	1	rs547100313		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr16:81965160G>T	ENST00000359376.3	+	25	2854	c.2640G>T	c.(2638-2640)caG>caT	p.Q880H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	880				Q -> E (in Ref. 1; AAA60112/CAA32194 and 3; AAQ76815). {ECO:0000305}.	B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGCCCAAGCAGCAGGGCGATC	0.512													G|||	1	0.000199681	0	0	5008	,	,		21108	0		0.001	False		,,,				2504	0																0													76	82	80					16																	81965160		1910	4119	6029	SO:0001583	missense	0				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.2640G>T	16.37:g.81965160G>T	ENSP00000352336:p.Gln880His		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.Q880H	ENST00000359376.3	37	c.2640	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921106	0.33908	.	.	ENSG00000197943	ENST00000359376	T	0.52295	0.67	5.54	2.33	0.28932	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.227351	0.52532	D	0.000063	T	0.23410	0.0566	N	0.14661	0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.06899	-1.0801	10	0.48119	T	0.1	.	1.401	0.02270	0.233:0.1163:0.4168:0.234	.	880	P16885	PLCG2_HUMAN	H	880	ENSP00000352336:Q880H	ENSP00000352336:Q880H	Q	+	3	2	PLCG2	80522661	0.981000	0.34729	1.000000	0.80357	0.982000	0.71751	0.668000	0.25127	1.293000	0.44690	0.655000	0.94253	CAG	PLCG2	-	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma	ENSG00000197943		0.512	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	-	0	46	0	G			81965160	1	tier1	-	no_errors	ENST00000359376	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.957	T	T	81965160	G	T	81965160	3	4	146	1	0	0	0	0	1	0	0	0	12075	962	34	3	2734	3	PLCG2	16	81965160	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	12780642	81965160	8389593	251	37293											
ACSF3	197322	genome.wustl.edu	37	chr16	89211764	89211764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggctacaaggtcagcGccctggaggtggagtggcac	8	6	17	10	1	1	0	1	0	0	0	1	3	1	3	1	7	2	2	1	7	2	1	rs192339782	byFrequency	TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr16:89211764G>T	ENST00000317447.4	+	9	1833	c.1456G>T	c.(1456-1458)Gcc>Tcc	p.A486S	ACSF3_ENST00000406948.3_Missense_Mutation_p.A486S|ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000378345.4_Missense_Mutation_p.A221S	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	486					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)		CAAGGTCAGCGCCCTGGAGGT	0.627																																																	0													82	72	75					16																	89211764		2198	4300	6498	SO:0001583	missense	0			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.1456G>T	16.37:g.89211764G>T	ENSP00000320646:p.Ala486Ser		A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A486S	ENST00000317447.4	37	c.1456	CCDS10974.1	16	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284074	0.80803	.	.	ENSG00000176715	ENST00000317447;ENST00000406948;ENST00000378345;ENST00000544543	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.69	3.7	0.42460	AMP-dependent synthetase/ligase (1);	0.136148	0.48286	U	0.000189	T	0.64472	0.2601	M	0.65498	2.005	0.44711	D	0.997704	D	0.65815	0.995	D	0.72982	0.979	T	0.63501	-0.6623	10	0.36615	T	0.2	-24.1555	14.1658	0.65475	0.0:0.1518:0.8482:0.0	.	486	Q4G176	ACSF3_HUMAN	S	486;486;221;221	ENSP00000320646:A486S;ENSP00000384627:A486S;ENSP00000367596:A221S;ENSP00000442781:A221S	ENSP00000320646:A486S	A	+	1	0	ACSF3	87739265	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	8.856000	0.92245	0.924000	0.37069	0.313000	0.20887	GCC	ACSF3	-	pfam_AMP-dep_Synth/Lig	ENSG00000176715		0.627	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF3	HGNC	protein_coding	OTTHUMT00000269919.1	-	0	65	0	G	NM_174917		89211764	1	tier1	-	no_errors	ENST00000317447	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	89211764	G	T	89211764	3	4	146	1	0	0	0	0	1	0	0	0	176	1087	38	2	1482	2	ACSF3	16	89211764	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	7246604	89211764	1142989	252	37294											
TSR1	55720	genome.wustl.edu	37	chr17	2237952	2237952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgcccaccaagttattCtcttcactaggaacaaaatc	14	10	6	11	0	2	0	1	0	1	0	4	1	2	1	2	2	2	1	2	2	7	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:2237952C>A	ENST00000301364.5	-	5	1874	c.795G>T	c.(793-795)gaG>gaT	p.E265D	SGSM2_ENST00000574563.1_5'Flank|TSR1_ENST00000576112.2_Missense_Mutation_p.E249D|SGSM2_ENST00000268989.3_5'Flank|SGSM2_ENST00000426855.2_5'Flank	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	265					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E265D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCAAGTTATTCTCTTCACTAG	0.458																																																	1	Substitution - Missense(1)	large_intestine(1)											103	100	101					17																	2237952		2203	4300	6503	SO:0001583	missense	0			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.795G>T	17.37:g.2237952C>A	ENSP00000301364:p.Glu265Asp		Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN	p.E265D	ENST00000301364.5	37	c.795	CCDS32525.1	17	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405566	0.25378	.	.	ENSG00000167721	ENST00000301364	T	0.46063	0.88	5.4	1.24	0.21308	AARP2CN (2);	0.454838	0.26899	N	0.021936	T	0.27419	0.0673	L	0.39397	1.21	0.38784	D	0.954836	B	0.13594	0.008	B	0.17098	0.017	T	0.09122	-1.0689	10	0.17832	T	0.49	-15.1336	6.0485	0.19773	0.0:0.5398:0.1231:0.3372	.	265	Q2NL82	TSR1_HUMAN	D	265	ENSP00000301364:E265D	ENSP00000301364:E265D	E	-	3	2	TSR1	2184702	0.833000	0.29383	0.923000	0.36655	0.867000	0.49689	0.180000	0.16860	0.026000	0.15269	-0.126000	0.14955	GAG	TSR1	-	pfam_AARP2CN,smart_AARP2CN	ENSG00000167721		0.458	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2		0	21	0	C	NM_018128		2237952	-1			no_errors	ENST00000301364	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.991	A	A	2237952	C	A	2237952	3	1	146	1	0	0	0	0	1	0	0	0	16712	912	32	3	1663	3	TSR1	17	2237952	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09		2237952	78957258	253	37295											
PELP1	27043	genome.wustl.edu	37	chr17	4594211	4594211	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgaatgctccgaagcCaagacacacagtgctgctgg	10	7	11	13	1	0	2	0	1	0	1	1	3	1	2	3	1	5	4	3	1	3	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:4594211C>G	ENST00000574876.1	-	3	409	c.392G>C	c.(391-393)tGg>tCg	p.W131S	PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000269230.7_Missense_Mutation_p.W131S|PELP1_ENST00000301396.4_Missense_Mutation_p.W131S|PELP1_ENST00000572293.1_Missense_Mutation_p.W181S|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000570823.1_5'UTR			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	131					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						GCTCCGAAGCCAAGACACACA	0.537																																																	0													72	72	72					17																	4594211		1992	4165	6157	SO:0001583	missense	0				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.392G>C	17.37:g.4594211C>G	ENSP00000461625:p.Trp131Ser		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.W131S	ENST00000574876.1	37	c.392	CCDS58503.1	17	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377435	0.42105	.	.	ENSG00000141456	ENST00000301396;ENST00000269230	T;T	0.68331	-0.32;-0.16	5.04	5.04	0.67666	.	0.075738	0.56097	D	0.000023	T	0.70168	0.3193	L	0.34521	1.04	0.80722	D	1	P	0.52577	0.954	P	0.57057	0.812	T	0.73623	-0.3924	10	0.87932	D	0	-12.1646	15.9204	0.79562	0.0:1.0:0.0:0.0	.	131	Q8IZL8	PELP1_HUMAN	S	131	ENSP00000301396:W131S;ENSP00000269230:W131S	ENSP00000269230:W131S	W	-	2	0	AC091153.1	4540960	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.378000	0.73150	2.609000	0.88269	0.563000	0.77884	TGG	PELP1	-	superfamily_ARM-type_fold	ENSG00000141456		0.537	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	-	0	74	0	C	NM_014389		4594211	-1	tier1	-	no_errors	ENST00000301396	ensembl	human	known	74_37	missense	16.30	112	22	SNP	1.000	G	G	4594211	C	G	4594211	3	3	146	1	0	0	0	0	1	0	0	0	11764	595	21	5	3060	5	PELP1	17	4594211	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	2356259	4594211	76600999	254	37296											
NLRP1	22861	genome.wustl.edu	37	chr17	5424238	5424238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccctgaaccagacccaGacacagtgtaacgacagccc	13	4	8	16	1	0	3	0	1	0	2	1	4	1	3	4	0	3	2	4	0	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:5424238G>T	ENST00000572272.1	-	14	3877	c.3878C>A	c.(3877-3879)tCt>tAt	p.S1293Y	NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000269280.4_Intron|NLRP1_ENST00000345221.3_Intron|NLRP1_ENST00000262467.5_Missense_Mutation_p.S1297Y|NLRP1_ENST00000354411.3_Missense_Mutation_p.S1263Y			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1293					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)				ACCAGACCCAGACACAGTGTA	0.517																																																	0													83	71	75					17																	5424238		2203	4300	6503	SO:0001583	missense	0			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.3878C>A	17.37:g.5424238G>T	ENSP00000460475:p.Ser1293Tyr		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.S1293Y	ENST00000572272.1	37	c.3878	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043755	0.55003	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411	T;T;T	0.21932	1.98;1.98;1.98	4.59	2.5	0.30297	.	0.000000	0.38272	N	0.001742	T	0.46405	0.1391	M	0.82323	2.585	0.21064	N	0.999793	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.998	T	0.34700	-0.9818	10	0.87932	D	0	.	11.1186	0.48275	0.0:0.3613:0.6387:0.0	.	1263;1293;1297	Q9C000-4;Q9C000;E9PE50	.;NALP1_HUMAN;.	Y	1297;1297;1293;1263	ENSP00000442029:S1297Y;ENSP00000262467:S1297Y;ENSP00000346390:S1263Y	ENSP00000262467:S1297Y	S	-	2	0	NLRP1	5364962	0.935000	0.31712	0.012000	0.15200	0.274000	0.26718	1.861000	0.39438	0.631000	0.30412	0.644000	0.83932	TCT	NLRP1	-	NULL	ENSG00000091592		0.517	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1		0	26	0	G	NM_033004		5424238	-1			no_errors	ENST00000572272	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.025	T	T	5424238	G	T	5424238	3	4	146	1	0	0	0	0	1	0	0	0	10510	942	33	3	622	3	NLRP1	17	5424238	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	830027	5424238	75770972	255	37297											
TP53	7157	genome.wustl.edu	37	chr17	7577017	7577017	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttcttgtcctgcttgcttAcctcgcttagtgctccctgg	2	16	9	14	1	1	0	0	0	1	0	4	0	3	0	3	1	4	5	3	1	2	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:7577017A>C	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|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.0?(8)|p.?(6)|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)	CTGCTTGCTTACCTCGCTTAG	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"	16	Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(2)	bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|lung(2)|stomach(1)|urinary_tract(1)|ovary(1)											128	112	117					17																	7577017		2203	4300	6503	SO:0001630	splice_region_variant	0	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+1T>G	17.37:g.7577017A>C			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	-	e7+2	ENST00000269305.4	37	c.919+2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	8.950	0.968007	0.18659	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7248	0.28753	0.8139:0.0:0.0:0.1861	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517742	1.000000	0.71417	0.780000	0.31762	0.217000	0.24651	7.280000	0.78610	0.855000	0.35359	0.459000	0.35465	.	TP53	-	-	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	55	0	A	NM_000546	Intron	7577017	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	41.76	53	38	SNP	0.853	C	C	7577017	A	C	7577017	5	2	146	1	0	0	0	0	0	0	1	0	16429	405	14	4	365	4	TP53	17	7577017	Splice_Site	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	2152779	7577017	73618193	256	37298											
ALOXE3	59344	genome.wustl.edu	37	chr17	8013843	8013843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccgctaggaagatgttccCcctctgcagaaggcacacag	10	7	11	13	1	1	2	0	0	1	2	3	3	3	3	3	2	1	4	3	2	3	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:8013843C>A	ENST00000448843.2	-	9	1301	c.961G>T	c.(961-963)Ggg>Tgg	p.G321W	ALOXE3_ENST00000380149.1_Missense_Mutation_p.G477W|ALOXE3_ENST00000318227.3_Missense_Mutation_p.G453W	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	321	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						AAGATGTTCCCCCTCTGCAGA	0.647											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													49	46	47					17																	8013843		2191	4279	6470	SO:0001583	missense	0			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.961G>T	17.37:g.8013843C>A	ENSP00000400581:p.Gly321Trp	646	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C	p.G453W	ENST00000448843.2	37	c.1357	CCDS11130.1	17	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082539	0.76528	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.91740	-2.9;-2.9;-2.9	4.52	3.54	0.40534	Lipoxygenase, C-terminal (3);	0.104529	0.64402	D	0.000003	D	0.95965	0.8686	M	0.87381	2.88	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	0.96009	0.9000	10	0.87932	D	0	-15.6686	11.8921	0.52635	0.0:0.9122:0.0:0.0878	.	453;321;321	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	W	477;453;321	ENSP00000369494:G477W;ENSP00000314879:G453W;ENSP00000400581:G321W	ENSP00000314879:G453W	G	-	1	0	ALOXE3	7954568	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	4.747000	0.62141	1.098000	0.41479	0.563000	0.77884	GGG	ALOXE3	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000179148		0.647	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	-	0	40	0	C			8013843	-1	tier1	-	no_errors	ENST00000318227	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	8013843	C	A	8013843	3	1	146	1	0	0	0	0	1	0	0	0	542	623	22	3	1206	3	ALOXE3	17	8013843	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	436826	8013843	73181367	257	37299											
ZNF624	57547	genome.wustl.edu	37	chr17	16527822	16527822	+	Splice_Site	SNP	G	G	T	0	0	1	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	gttgcaggtttgggctccatGtctggggcaaaaaagagaaa	12	9	14	6	0	1	1	0	0	1	1	2	2	2	1	1	4	1	5	1	4	4	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:16527822G>T	ENST00000311331.7	-	6	469	c.378C>A	c.(376-378)gaC>gaA	p.D126E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		TGGGCTCCATGTCTGGGGCAA	0.383																																					NSCLC(186;1023 2134 13330 38202 39800)												0													73	69	70					17																	16527822		2203	4300	6503	SO:0001630	splice_region_variant	0			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.377-1C>A	17.37:g.16527822G>T			Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D126E	ENST00000311331.7	37	c.378	CCDS11180.1	17	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.566359	0.00903	.	.	ENSG00000197566	ENST00000311331	T	0.05855	3.38	2.95	-0.264	0.12950	.	.	.	.	.	T	0.03783	0.0107	N	0.21282	0.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47837	-0.9086	9	0.16420	T	0.52	.	5.9038	0.18982	0.0:0.4593:0.37:0.1708	.	126	Q9P2J8	ZN624_HUMAN	E	126	ENSP00000310472:D126E	ENSP00000310472:D126E	D	-	3	2	ZNF624	16468547	0.000000	0.05858	0.004000	0.12327	0.304000	0.27724	-0.570000	0.05895	-0.003000	0.14444	0.655000	0.94253	GAC	ZNF624	-	NULL	ENSG00000197566		0.383	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF624	HGNC	protein_coding	OTTHUMT00000130512.3	-	0	60	0	G	XM_047617	Missense_Mutation	16527822	-1	tier1	-	no_errors	ENST00000311331	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.001	T	T	16527822	G	T	16527822	5	4	146	1	0	0	0	0	0	0	1	0	18096	1391	48	3	2223	3	ZNF624	17	16527822	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	8513979	16527822	64667388	258	37300											
ALDH3A2	224	genome.wustl.edu	37	chr17	19564483	19564483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtctcctgattatgaaaGgatcatcaatcttcgtcatt	12	14	7	8	1	5	3	3	2	2	1	7	4	5	4	1	1	0	0	1	1	3	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:19564483G>T	ENST00000176643.6	+	6	1288	c.842G>T	c.(841-843)aGg>aTg	p.R281M	ALDH3A2_ENST00000339618.4_Missense_Mutation_p.R281M|SNORA31_ENST00000516540.1_RNA|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.R281M|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.R281M|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.R281M|ALDH3A2_ENST00000571163.1_5'Flank			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	281					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)					GATTATGAAAGGATCATCAAT	0.353																																																	0													69	67	68					17																	19564483		2203	4300	6503	SO:0001583	missense	0			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.842G>T	17.37:g.19564483G>T	ENSP00000176643:p.Arg281Met		Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.R281M	ENST00000176643.6	37	c.842	CCDS11210.1	17	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084755	0.55861	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	T;T;T	0.75821	-0.97;-0.97;-0.97	6.07	6.07	0.98685	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.99	D	0.93784	0.7086	10	0.87932	D	0	-33.2456	19.6321	0.95713	0.0:0.0:1.0:0.0	.	281;281	P51648;P51648-2	AL3A2_HUMAN;.	M	281	ENSP00000176643:R281M;ENSP00000378942:R281M;ENSP00000345774:R281M	ENSP00000176643:R281M	R	+	2	0	ALDH3A2	19505075	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.715000	0.98748	2.884000	0.98904	0.655000	0.94253	AGG	ALDH3A2	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000072210		0.353	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	ALDH3A2	HGNC	protein_coding	OTTHUMT00000132268.1	-	0	48	0	G			19564483	1	tier1	-	no_errors	ENST00000339618	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	19564483	G	T	19564483	3	4	146	1	0	0	0	0	1	0	0	0	498	1000	35	3	864	3	ALDH3A2	17	19564483	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	3036661	19564483	61630727	259	37301											
PIPOX	51268	genome.wustl.edu	37	chr17	27382229	27382229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctgtcattgagagctGcatgtacacggtaaggggtc	8	10	14	9	1	1	1	1	1	0	1	2	2	1	1	1	3	4	5	1	3	2	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:27382229G>T	ENST00000323372.4	+	6	1282	c.956G>T	c.(955-957)tGc>tTc	p.C319F	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	319					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	ATTGAGAGCTGCATGTACACG	0.577																																																	0													134	117	123					17																	27382229		2203	4300	6503	SO:0001583	missense	0			AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"L-pipecolic acid oxidase"					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.956G>T	17.37:g.27382229G>T	ENSP00000317721:p.Cys319Phe		B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon	p.C319F	ENST00000323372.4	37	c.956	CCDS11248.1	17	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173260	0.78452	.	.	ENSG00000179761	ENST00000323372	D	0.83837	-1.77	5.87	5.87	0.94306	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.94618	0.8265	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95806	0.8837	10	0.87932	D	0	-3.2856	18.9818	0.92757	0.0:0.0:1.0:0.0	.	319	Q9P0Z9	SOX_HUMAN	F	319	ENSP00000317721:C319F	ENSP00000317721:C319F	C	+	2	0	PIPOX	24406355	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	8.287000	0.89918	2.780000	0.95670	0.563000	0.77884	TGC	PIPOX	-	pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon	ENSG00000179761		0.577	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIPOX	HGNC	protein_coding	OTTHUMT00000255954.1	-	0	34	0	G	NM_016518		27382229	1	tier1	-	no_errors	ENST00000323372	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	27382229	G	T	27382229	3	4	146	1	0	0	0	0	1	0	0	0	11982	1319	46	3	978	3	PIPOX	17	27382229	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	7817746	27382229	53812981	260	37302											
CCT6B	10693	genome.wustl.edu	37	chr17	33266647	33266647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatactcactaatgtatactCatacacaagaccagcatgtc	16	10	4	11	0	2	1	2	0	0	1	3	1	2	1	1	0	4	2	1	0	7	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:33266647C>T	ENST00000314144.5	-	9	1169	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	CCT6B_ENST00000421975.3_Missense_Mutation_p.E315K|CCT6B_ENST00000436961.3_Missense_Mutation_p.E307K	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	352					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				AATGTATACTCATACACAAGA	0.348																																																	0													97	85	89					17																	33266647		2203	4300	6503	SO:0001583	missense	0			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1054G>A	17.37:g.33266647C>T	ENSP00000327191:p.Glu352Lys		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.E352K	ENST00000314144.5	37	c.1054	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337332	0.60963	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.70164	-0.46;-0.46;-0.46	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	H	0.99435	4.565	0.80722	D	1	P;P;D	0.55385	0.931;0.933;0.971	D;D;D	0.66351	0.928;0.928;0.943	D	0.93366	0.6731	10	0.72032	D	0.01	-14.9254	15.4794	0.75514	0.0:1.0:0.0:0.0	.	307;315;352	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	K	315;352;307	ENSP00000398044:E315K;ENSP00000327191:E352K;ENSP00000400917:E307K	ENSP00000327191:E352K	E	-	1	0	CCT6B	30290760	1.000000	0.71417	0.236000	0.24074	0.255000	0.26057	5.267000	0.65530	2.595000	0.87683	0.563000	0.77884	GAG	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta	ENSG00000132141		0.348	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	-	0	28	0	C	NM_006584		33266647	-1	tier1	-	no_errors	ENST00000314144	ensembl	human	known	74_37	missense	13.79	50	8	SNP	0.911	T	T	33266647	C	T	33266647	3	4	146	1	0	0	0	0	1	0	0	0	2965	835	29	3	562	3	CCT6B	17	33266647	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	5884418	33266647	47928563	261	37303											
MMP28	79148	genome.wustl.edu	37	chr17	34122276	34122276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacacacggcgtacctccgCctccttgcgcagctcctggc	5	8	10	18	4	0	0	0	0	0	0	3	0	3	0	5	2	4	4	5	2	2	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:34122276C>T	ENST00000250144.8	-	1	435	c.106G>A	c.(106-108)Gcg>Acg	p.A36T		NM_001032278.1	NP_001027449.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 28	36					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)	CGTACCTCCGCCTCCTTGCGC	0.711																																																	0													8	11	10					17																	34122276		1822	3509	5331	SO:0001583	missense	0			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.106G>A	17.37:g.34122276C>T	ENSP00000250144:p.Ala36Thr		Q96F04|Q96TE2	Missense_Mutation	SNP	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like	p.A36T	ENST00000250144.8	37	c.106	CCDS45651.1	17	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420108	0.83559	.	.	ENSG00000129270	ENST00000338839;ENST00000538544;ENST00000250144	T	0.40476	1.03	4.41	3.41	0.39046	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.46268	0.1384	.	.	.	0.21386	N	0.999708	P;P	0.51933	0.949;0.698	P;B	0.51516	0.672;0.419	T	0.25293	-1.0136	8	0.48119	T	0.1	.	9.7717	0.40593	0.205:0.795:0.0:0.0	.	36;36	Q9H239-2;Q9H239	.;MMP28_HUMAN	T	36	ENSP00000250144:A36T	ENSP00000250144:A36T	A	-	1	0	MMP28	31146389	0.985000	0.35326	0.991000	0.47740	0.924000	0.55760	1.853000	0.39358	1.403000	0.46800	0.650000	0.86243	GCG	MMP28	-	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like	ENSG00000129270		0.711	MMP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP28	HGNC	protein_coding	OTTHUMT00000449269.1		0	26	0	C	NM_024302		34122276	-1			no_errors	ENST00000587639	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.992	T	T	34122276	C	T	34122276	3	4	146	1	0	0	0	0	1	0	0	0	9703	739	26	3	1501	3	MMP28	17	34122276	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	855629	34122276	47072934	262	37304											
MYO19	80179	genome.wustl.edu	37	chr17	34852182	34852182	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagcctgtaatgctgtaGggtgaaggttcagggcagat	11	11	14	5	0	1	2	1	1	0	1	1	2	1	2	1	3	2	5	1	3	5	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:34852182G>T	ENST00000431794.3	-	26	3348	c.2826C>A	c.(2824-2826)ccC>ccA	p.P942P	MYO19_ENST00000268852.9_Silent_p.P742P|ZNHIT3_ENST00000592616.1_Intron|ZNHIT3_ENST00000588253.1_Intron|ZNHIT3_ENST00000590858.1_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	942	Mitochondrial targeting.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TAATGCTGTAGGGTGAAGGTT	0.512																																																	0													135	144	141					17																	34852182		2064	4211	6275	SO:0001819	synonymous_variant	0			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2826C>A	17.37:g.34852182G>T			Q59GS4|Q9H5X2	Silent	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.P942	ENST00000431794.3	37	c.2826	CCDS54112.1	17																																																																																			MYO19	-	NULL	ENSG00000141140		0.512	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1	-	0	50	0	G	NM_025109		34852182	-1	tier1	-	no_errors	ENST00000431794	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.028	T	T	34852182	G	T	34852182	2	4	146	1	0	0	0	0	0	0	0	1	10105	987	35	3		3	MYO19	17	34852182	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	729906	34852182	46343028	263	37305											
KLHL10	317719	genome.wustl.edu	37	chr17	40001402	40001402	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggccctaatgcatgctGagtacttcatgaacaatgtt	10	12	9	10	0	1	2	1	2	0	0	1	2	1	2	2	1	4	4	2	1	4	4	rs374019359		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:40001402G>T	ENST00000293303.4	+	3	862	c.709G>T	c.(709-711)Gag>Tag	p.E237*		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	237					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AATGCATGCTGAGTACTTCAT	0.433																																																	0													87	81	83					17																	40001402		2048	4197	6245	SO:0001587	stop_gained	0			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.709G>T	17.37:g.40001402G>T	ENSP00000293303:p.Glu237*		Q6NW28|Q96MC0	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E237*	ENST00000293303.4	37	c.709	CCDS42340.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.528153	0.96446	.	.	ENSG00000161594	ENST00000293303	.	.	.	5.51	5.51	0.81932	.	0.336736	0.35772	N	0.002983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1556	0.89689	0.0:0.0:1.0:0.0	.	.	.	.	X	237	.	.	E	+	1	0	KLHL10	37254928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.810000	0.62598	2.873000	0.98535	0.561000	0.74099	GAG	KLHL10	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000161594		0.433	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL10	HGNC	protein_coding	OTTHUMT00000326535.1	-	0	30	0	G	NM_152467		40001402	1	tier1	-	no_errors	ENST00000293303	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	0.996	T	T	40001402	G	T	40001402	4	4	146	1	0	0	0	0	0	1	0	0	8393	1291	45	3	719	3	KLHL10	17	40001402	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	5149220	40001402	41193808	264	37306											
RND2	8153	genome.wustl.edu	37	chr17	41180521	41180521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtcctctgagcgcagcGtcagggatgtcttccatgtg	5	10	13	13	3	3	1	1	1	2	0	5	2	5	2	3	2	2	1	3	2	0	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:41180521G>A	ENST00000587250.2	+	5	615	c.508G>A	c.(508-510)Gtc>Atc	p.V170I	RND2_ENST00000544533.1_Missense_Mutation_p.V171I|CTD-3199J23.4_ENST00000225973.5_lincRNA			P52198	RND2_HUMAN	Rho family GTPase 2	170					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)		TGAGCGCAGCGTCAGGGATGT	0.622																																																	0													67	63	65					17																	41180521		2203	4300	6503	SO:0001583	missense	0			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.508G>A	17.37:g.41180521G>A	ENSP00000466680:p.Val170Ile		A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V171I	ENST00000587250.2	37	c.511	CCDS11452.1	17	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941209	0.92526	.	.	ENSG00000108830	ENST00000544533;ENST00000225973	T	0.80653	-1.4	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81621	0.4861	L	0.36672	1.1	0.80722	D	1	P	0.41643	0.758	P	0.48704	0.587	T	0.82420	-0.0466	10	0.66056	D	0.02	.	19.2909	0.94098	0.0:0.0:1.0:0.0	.	170	P52198	RND2_HUMAN	I	171;170	ENSP00000439328:V171I	ENSP00000225973:V170I	V	+	1	0	RND2	38434047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.623000	0.98386	2.894000	0.99253	0.655000	0.94253	GTC	RND2	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase	ENSG00000108830		0.622	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RND2	HGNC	protein_coding	OTTHUMT00000453111.2	-	0	33	0	G	NM_005440		41180521	1	tier1	-	no_errors	ENST00000544533	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	A	A	41180521	G	A	41180521	3	1	146	1	0	0	0	0	1	0	0	0	13465	1145	40	1	526	1	RND2	17	41180521	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1179119	41180521	40014689	265	37307											
TANC2	26115	genome.wustl.edu	37	chr17	61482569	61482569	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcccagccaaaccgcCgaggagcagtgccactattc	10	5	11	15	2	0	0	0	0	0	0	1	2	0	1	5	2	4	1	5	2	2	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:61482569C>A	ENST00000424789.2	+	18	3200	c.3196C>A	c.(3196-3198)Cga>Aga	p.R1066R	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.R1066R|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1066					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						GCCAAACCGCCGAGGAGCAGT	0.617																																																	0													19	21	20					17																	61482569		2011	4162	6173	SO:0001819	synonymous_variant	0			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.3196C>A	17.37:g.61482569C>A			Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R1066	ENST00000424789.2	37	c.3196	CCDS45754.1	17																																																																																			TANC2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000170921		0.617	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1		0	24	0	C			61482569	1			no_errors	ENST00000424789	ensembl	human	known	74_37	silent	5.71	33	2	SNP	1.000	A	A	61482569	C	A	61482569	2	1	146	1	0	0	0	0	0	0	0	1	15592	644	23	2		2	TANC2	17	61482569	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	20302048	61482569	19712641	266	37308											
TTYH2	94015	genome.wustl.edu	37	chr17	72233537	72233537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctgcagaccctgaagttCatacagcagatggcgggcag	11	7	12	11	1	1	3	1	1	0	2	1	3	1	3	2	2	4	4	2	2	3	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:72233537C>G	ENST00000269346.4	+	4	593	c.519C>G	c.(517-519)ttC>ttG	p.F173L	TTYH2_ENST00000529107.1_Missense_Mutation_p.F152L	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	173						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCCTGAAGTTCATACAGCAGA	0.592																																																	0													84	79	80					17																	72233537		2203	4300	6503	SO:0001583	missense	0				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.519C>G	17.37:g.72233537C>G	ENSP00000269346:p.Phe173Leu		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	pfam_Tweety	p.F173L	ENST00000269346.4	37	c.519	CCDS32717.1	17	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100444	0.56183	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.10763	2.84;2.84	5.52	2.43	0.29744	.	0.048245	0.85682	N	0.000000	T	0.15565	0.0375	M	0.81802	2.56	0.80722	D	1	B;B	0.27013	0.166;0.014	B;B	0.32289	0.143;0.021	T	0.01844	-1.1262	10	0.39692	T	0.17	-27.5661	7.8854	0.29646	0.0:0.7178:0.1334:0.1487	.	152;173	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	L	173;152	ENSP00000269346:F173L;ENSP00000433089:F152L	ENSP00000269346:F173L	F	+	3	2	TTYH2	69745132	0.885000	0.30320	0.540000	0.28089	0.967000	0.64934	1.428000	0.34892	0.281000	0.22233	0.655000	0.94253	TTC	TTYH2	-	pfam_Tweety	ENSG00000141540		0.592	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TTYH2	HGNC	protein_coding	OTTHUMT00000387459.1	-	0	26	0	C			72233537	1	tier1	-	no_errors	ENST00000269346	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.993	G	G	72233537	C	G	72233537	3	3	146	1	0	0	0	0	1	0	0	0	16789	825	29	5	533	5	TTYH2	17	72233537	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	10750968	72233537	8961673	267	37309											
ARL16	339231	genome.wustl.edu	37	chr17	79649152	79649152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacaggatgcagagagctGggtggggtcagaggcgtcca	10	5	17	9	1	1	2	1	0	0	2	2	4	2	3	1	5	2	2	1	5	0	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr17:79649152G>T	ENST00000397498.4	-	4	432	c.334C>A	c.(334-336)Cag>Aag	p.Q112K	HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000573392.1_Missense_Mutation_p.Q8K|ARL16_ENST00000574938.1_Missense_Mutation_p.Q8K|ARL16_ENST00000576135.1_Missense_Mutation_p.Q26K|ARL16_ENST00000570561.1_Missense_Mutation_p.Q26K	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	112					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)			GCAGAGAGCTGGGTGGGGTCA	0.532																																																	0													28	30	29					17																	79649152		1919	4126	6045	SO:0001583	missense	0				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.334C>A	17.37:g.79649152G>T	ENSP00000380635:p.Gln112Lys			Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1	p.Q112K	ENST00000397498.4	37	c.334	CCDS45813.1	17	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383219	0.82792	.	.	ENSG00000214087	ENST00000397498	T	0.61742	0.08	4.19	4.19	0.49359	.	0.000000	0.64402	U	0.000001	T	0.70657	0.3249	L	0.52126	1.63	0.58432	D	0.999992	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.74763	-0.3555	10	0.87932	D	0	-13.1745	15.6695	0.77262	0.0:0.0:1.0:0.0	.	112;88	Q0P5N6;B4E3H0	ARL16_HUMAN;.	K	112	ENSP00000380635:Q112K	ENSP00000380635:Q112K	Q	-	1	0	ARL16	77259557	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	8.031000	0.88826	2.165000	0.68154	0.563000	0.77884	CAG	ARL16	-	pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1	ENSG00000214087		0.532	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ARL16	HGNC	protein_coding	OTTHUMT00000440514.1		0	45	0	G	XM_290777		79649152	-1			no_errors	ENST00000397498	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	79649152	G	T	79649152	3	4	146	1	0	0	0	0	1	0	0	0	932	1357	47	3	267	3	ARL16	17	79649152	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	7415615	79649152	1546058	268	37310											
SMAD4	4089	genome.wustl.edu	37	chr18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaacaattaagatctctCaggattaacactgcagagta	16	12	6	7	0	2	2	1	0	1	2	3	3	2	3	0	1	3	2	0	1	6	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr18:48575671C>G	ENST00000342988.3	+	4	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294																																																	45	Whole gene deletion(36)|Substitution - Nonsense(5)|Unknown(4)	pancreas(26)|lung(4)|breast(4)|large_intestine(3)|stomach(3)|upper_aerodigestive_tract(2)|skin(1)|oesophagus(1)|NS(1)											182	163	169					18																	48575671		2202	4298	6500	SO:0001587	stop_gained	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.431C>G	18.37:g.48575671C>G	ENSP00000341551:p.Ser144*		A8K405	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S144*	ENST00000342988.3	37	c.431	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	42	9.517242	0.99193	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.1014	0.93275	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000341551:S144X	S	+	2	0	SMAD4	46829669	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.885000	0.63142	2.810000	0.96702	0.585000	0.79938	TCA	SMAD4	-	NULL	ENSG00000141646		0.294	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	-	0	25	0	C	NM_005359		48575671	1	tier1	-	no_errors	ENST00000342988	ensembl	human	known	74_37	nonsense	15.09	45	8	SNP	1.000	G	G	48575671	C	G	48575671	4	3	146	1	0	0	0	0	0	1	0	0	14805	838	29	5	441	5	SMAD4	18	48575671	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09		48575671	29501577	269	37311											
SOCS6	9306	genome.wustl.edu	37	chr18	67992971	67992971	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgctcctggggttgcaaGagtttatgactcagtgcaaa	9	12	11	9	0	2	2	1	1	1	1	3	2	3	2	1	2	3	5	1	2	3	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr18:67992971G>C	ENST00000397942.3	+	2	1383	c.1067G>C	c.(1066-1068)aGa>aCa	p.R356T	SOCS6_ENST00000582322.1_Missense_Mutation_p.R356T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	356					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)				GGGGTTGCAAGAGTTTATGAC	0.483																																					Melanoma(84;1024 1361 24382 36583 42651)												0													78	75	76					18																	67992971		2203	4300	6503	SO:0001583	missense	0			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.1067G>C	18.37:g.67992971G>C	ENSP00000381034:p.Arg356Thr		Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R356T	ENST00000397942.3	37	c.1067	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906841	0.72868	.	.	ENSG00000170677	ENST00000397942	T	0.30182	1.54	5.19	5.19	0.71726	.	0.064345	0.56097	D	0.000024	T	0.29882	0.0747	L	0.32530	0.975	0.58432	D	0.999999	P	0.35714	0.517	B	0.37198	0.243	T	0.12041	-1.0563	10	0.66056	D	0.02	-15.918	18.7481	0.91802	0.0:0.0:1.0:0.0	.	356	O14544	SOCS6_HUMAN	T	356	ENSP00000381034:R356T	ENSP00000381034:R356T	R	+	2	0	SOCS6	66143951	1.000000	0.71417	0.411000	0.26484	0.971000	0.66376	7.708000	0.84633	2.426000	0.82243	0.561000	0.74099	AGA	SOCS6	-	NULL	ENSG00000170677		0.483	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	-	0	48	0	G			67992971	1	tier1	-	no_errors	ENST00000397942	ensembl	human	known	74_37	missense	12.12	58	8	SNP	1.000	C	C	67992971	G	C	67992971	3	2	146	1	0	0	0	0	1	0	0	0	14963	942	33	5	1069	5	SOCS6	18	67992971	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	19417300	67992971	10084277	270	37312											
ATP8B3	148229	genome.wustl.edu	37	chr19	1802525	1802525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagcaggtgtctgtgttgcGaatcctgcagcctcggagga	8	10	14	9	2	1	0	0	0	1	0	3	3	2	2	2	3	4	3	2	3	2	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:1802525G>A	ENST00000310127.6	-	11	1262	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	ATP8B3_ENST00000539485.1_Missense_Mutation_p.R342C|ATP8B3_ENST00000526092.2_Missense_Mutation_p.R289C|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R289C	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	342					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)		TCTGTGTTGCGAATCCTGCAG	0.557																																																	0													126	136	132					19																	1802525		2122	4227	6349	SO:0001583	missense	0			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.1024C>T	19.37:g.1802525G>A	ENSP00000311336:p.Arg342Cys		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R342C	ENST00000310127.6	37	c.1024	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	g	16.22	3.060609	0.55432	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	3.72	3.72	0.42706	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.059508	0.64402	U	0.000003	D	0.88720	0.6513	H	0.95328	3.655	0.47659	D	0.999483	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	D	0.90533	0.4497	10	0.87932	D	0	.	10.1732	0.42922	0.0:0.0:0.8005:0.1995	.	289;342;289	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	C	342;342;289;289;289	ENSP00000311336:R342C;ENSP00000443574:R342C;ENSP00000437115:R289C;ENSP00000445204:R289C	ENSP00000311336:R342C	R	-	1	0	ATP8B3	1753525	1.000000	0.71417	0.991000	0.47740	0.541000	0.35023	4.208000	0.58486	1.930000	0.55929	0.450000	0.29827	CGC	ATP8B3	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000130270		0.557	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	-	0	60	0	G	NM_138813		1802525	-1	tier1	-	no_errors	ENST00000539485	ensembl	human	known	74_37	missense	8.43	76	7	SNP	0.986	A	A	1802525	G	A	1802525	3	1	146	1	0	0	0	0	1	0	0	0	1197	1058	37	1	3002	1	ATP8B3	19	1802525	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09		1802525	57326458	271	37313											
ADAMTS10	81794	genome.wustl.edu	37	chr19	8665990	8665990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcaggcggtggcttcaagGtccgcagccaccatggccgc	6	6	15	14	3	1	0	1	0	0	0	2	0	2	0	4	6	1	3	4	6	1	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:8665990G>T	ENST00000597188.1	-	6	902	c.632C>A	c.(631-633)aCc>aAc	p.T211N	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.T211N	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	211						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						TGGCTTCAAGGTCCGCAGCCA	0.642																																																	0													32	32	32					19																	8665990		2203	4300	6503	SO:0001583	missense	0			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.632C>A	19.37:g.8665990G>T	ENSP00000471851:p.Thr211Asn		M0QZE4	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T211N	ENST00000597188.1	37	c.632	CCDS12206.1	19	.	.	.	.	.	.	.	.	.	.	G	6.809	0.518378	0.13005	.	.	ENSG00000142303	ENST00000270328	T	0.59364	0.27	5.47	3.24	0.37175	.	0.203724	0.40908	D	0.000985	T	0.37019	0.0988	N	0.19112	0.55	0.43982	D	0.996671	B	0.02656	0.0	B	0.04013	0.001	T	0.08472	-1.0720	10	0.15066	T	0.55	.	9.4575	0.38764	0.0:0.1402:0.5698:0.29	.	211	Q9H324	ATS10_HUMAN	N	211	ENSP00000270328:T211N	ENSP00000270328:T211N	T	-	2	0	ADAMTS10	8571990	1.000000	0.71417	0.956000	0.39512	0.387000	0.30353	3.427000	0.52785	0.612000	0.30071	0.555000	0.69702	ACC	ADAMTS10	-	NULL	ENSG00000142303		0.642	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	-	0	23	0	G	NM_030957		8665990	-1	tier1	-	no_errors	ENST00000270328	ensembl	human	known	74_37	missense	18.52	22	5	SNP	0.960	T	T	8665990	G	T	8665990	3	4	146	1	0	0	0	0	1	0	0	0	256	1261	44	3	2763	3	ADAMTS10	19	8665990	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	6863465	8665990	50462993	272	37314											
MUC16	94025	genome.wustl.edu	37	chr19	8976800	8976800	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccttgcccatatctggtGaatactggagattggagatg	10	11	12	8	0	1	3	0	1	1	2	1	5	1	3	2	3	3	0	2	3	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:8976800G>T	ENST00000397910.4	-	73	42469	c.42266C>A	c.(42265-42267)tCa>tAa	p.S14089*	MUC16_ENST00000380951.5_Nonsense_Mutation_p.S730*|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14119				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						CATATCTGGTGAATACTGGAG	0.572																																																	0													114	113	113					19																	8976800		1969	4146	6115	SO:0001587	stop_gained	0			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.42266C>A	19.37:g.8976800G>T	ENSP00000381008:p.Ser14089*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S14089*	ENST00000397910.4	37	c.42266	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	31|31	5.103690|5.103690	0.94245|0.94245	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|.	.|.	.|.	4.37|4.37	2.16|2.16	0.27623|0.27623	.|.	.|0.665496	.|0.11564	.|N	.|0.551464	T|.	0.38295|.	0.1035|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43798|.	-0.9369|.	3|.	.|.	.|.	.|.	.|.	5.3244|5.3244	0.15898|0.15898	0.1054:0.0:0.6948:0.1998|0.1054:0.0:0.6948:0.1998	.|.	.|.	.|.	.|.	N|X	912|14089;730	.|.	.|.	H|S	-|-	1|2	0|0	MUC16|MUC16	8837800|8837800	0.004000|0.004000	0.15560|0.15560	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.442000|1.442000	0.35046|0.35046	0.562000|0.562000	0.29204|0.29204	-0.389000|-0.389000	0.06534|0.06534	CAC|TCA	MUC16	-	pfam_SEA_dom	ENSG00000181143		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	51	0	G	NM_024690		8976800	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	nonsense	5.19	73	4	SNP	0.001	T	T	8976800	G	T	8976800	4	4	146	1	0	0	0	0	0	1	0	0	10011	1294	45	3	1305	3	MUC16	19	8976800	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	310810	8976800	50152183	273	37315											
HOOK2	29911	genome.wustl.edu	37	chr19	12881826	12881826	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttccggtgctgcagctcCgcaacctccctctccagctc	4	10	9	18	2	1	0	0	0	1	0	6	0	4	0	5	2	5	6	5	2	1	1	rs545818457		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:12881826C>A	ENST00000397668.3	-	10	895	c.822G>T	c.(820-822)gcG>gcT	p.A274A	HOOK2_ENST00000264827.5_Silent_p.A274A|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	274	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						GCTGCAGCTCCGCAACCTCCC	0.657																																																	0													29	35	33					19																	12881826		2069	4198	6267	SO:0001819	synonymous_variant	0			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.822G>T	19.37:g.12881826C>A			O60562	Silent	SNP	pfam_Hook-related_fam,superfamily_UBA-like	p.A274	ENST00000397668.3	37	c.822	CCDS42508.1	19																																																																																			HOOK2	-	pfam_Hook-related_fam	ENSG00000095066		0.657	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	HGNC	protein_coding	OTTHUMT00000451008.1		0	32	0	C	NM_013312		12881826	-1			no_errors	ENST00000397668	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.000	A	A	12881826	C	A	12881826	2	1	146	1	0	0	0	0	0	0	0	1	7310	639	23	2		2	HOOK2	19	12881826	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	3905026	12881826	46247157	274	37316											
NOTCH3	4854	genome.wustl.edu	37	chr19	15302440	15302440	+	Silent	SNP	C	C	T	0	0	0	1	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	gcgttgggctgcagctgacaCtcatccacgtcctccgtgca	6	9	11	15	3	1	1	1	1	0	0	4	1	4	1	3	1	3	5	3	1	0	1	rs145049433		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:15302440C>T	ENST00000263388.2	-	6	906	c.831G>A	c.(829-831)gaG>gaA	p.E277E		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	277	EGF-like 7. {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)			GCAGCTGACACTCATCCACGT	0.642																																																	0								C		0,4404		0,0,2202	65	50	55		831	-1.5	1	19	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NOTCH3	NM_000435.2		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		277/2322	15302440	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	0			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.831G>A	19.37:g.15302440C>T			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.E277	ENST00000263388.2	37	c.831	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.642	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	46	0	C	NM_000435		15302440	-1	tier1	rs145049433	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	12.31	57	8	SNP	0.998	T	T	15302440	C	T	15302440	2	4	146	1	0	0	0	0	0	0	0	1	10589	564	20	3		3	NOTCH3	19	15302440	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	2420614	15302440	43826543	275	37317											
EPHX3	79852	genome.wustl.edu	37	chr19	15342090	15342090	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgatgtccaccagcagcagGtcgattgtgtagcagtccac	9	10	11	11	1	0	1	0	1	0	0	3	2	2	1	3	1	3	4	3	1	1	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:15342090G>A	ENST00000221730.3	-	3	667	c.447C>T	c.(445-447)gaC>gaT	p.D149D	EPHX3_ENST00000602233.1_Silent_p.D149D|EPHX3_ENST00000435261.1_Silent_p.D149D	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	149						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCAGCAGCAGGTCGATTGTGT	0.602																																																	0													102	99	100					19																	15342090		2203	4300	6503	SO:0001819	synonymous_variant	0			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.447C>T	19.37:g.15342090G>A			A3KMR3	Silent	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.D149	ENST00000221730.3	37	c.447	CCDS12327.1	19																																																																																			EPHX3	-	pfam_AB_hydrolase_1	ENSG00000105131		0.602	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EPHX3	HGNC	protein_coding	OTTHUMT00000465797.1	-	0	16	0	G	NM_024794		15342090	-1	tier1	-	no_errors	ENST00000221730	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.198	A	A	15342090	G	A	15342090	2	1	146	1	0	0	0	0	0	0	0	1	5197	1252	44	3		3	EPHX3	19	15342090	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	39650	15342090	43786893	276	37318											
ZNF253	56242	genome.wustl.edu	37	chr19	20003455	20003455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttaactggtcctcagacCttaataaacataagaaaatt	16	13	4	8	0	1	2	1	0	0	2	2	2	2	2	2	1	2	0	2	1	7	6			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:20003455C>A	ENST00000589717.1	+	4	1491	c.1399C>A	c.(1399-1401)Ctt>Att	p.L467I	ZNF253_ENST00000355650.4_Missense_Mutation_p.L391I|AC011477.1_ENST00000578823.1_RNA|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	467					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(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCCTCAGACCTTAATAAACA	0.333																																																	0													57	64	62					19																	20003455		2092	4248	6340	SO:0001583	missense	0			AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"Zinc fingers, C2H2-type", "-"	13497	protein-coding gene	gene with protein product		606954	"zinc finger protein 411"	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.1399C>A	19.37:g.20003455C>A	ENSP00000468720:p.Leu467Ile		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L467I	ENST00000589717.1	37	c.1399	CCDS42532.1	19	.	.	.	.	.	.	.	.	.	.	c	12.96	2.095052	0.36952	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30696	0.0773	N	0.08118	0	0.09310	N	1	D	0.57257	0.979	D	0.62955	0.909	T	0.19160	-1.0314	7	.	.	.	.	6.9761	0.24677	0.0:1.0:0.0:0.0	.	467	O75346	ZN253_HUMAN	I	467	.	.	L	+	1	0	ZNF253	19864455	0.351000	0.24887	0.393000	0.26258	0.391000	0.30476	1.875000	0.39578	0.181000	0.19994	0.184000	0.17185	CTT	ZNF253	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256771		0.333	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF253	HGNC	protein_coding	OTTHUMT00000460802.1	-	0	46	0	C	NM_021047		20003455	1	tier1	-	no_errors	ENST00000589717	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.048	A	A	20003455	C	A	20003455	3	1	146	1	0	0	0	0	1	0	0	0	17845	681	24	3	1413	3	ZNF253	19	20003455	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	4661365	20003455	39125528	277	37319											
ZNF708	7562	genome.wustl.edu	37	chr19	21493355	21493355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacattcctatataaattCtgctgtgctgtgtccaggca	10	14	8	9	0	1	1	0	1	1	0	3	1	3	1	2	1	2	3	2	1	4	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:21493355C>T	ENST00000356929.3	-	2	275	c.78G>A	c.(76-78)caG>caA	p.Q26Q		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TATATAAATTCTGCTGTGCTG	0.343																																																	0													65	70	68					19																	21493355		2203	4300	6503	SO:0001819	synonymous_variant	0			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.78G>A	19.37:g.21493355C>T			Q6ZMR0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q26	ENST00000356929.3	37	c.78	CCDS32980.1	19																																																																																			ZNF708	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000182141		0.343	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF708	HGNC	protein_coding	OTTHUMT00000463953.1	-	0	56	0	C	NM_021269		21493355	-1	tier1	-	no_errors	ENST00000356929	ensembl	human	known	74_37	silent	17.71	79	17	SNP	0.019	T	T	21493355	C	T	21493355	2	4	146	1	0	0	0	0	0	0	0	1	18160	912	32	3		3	ZNF708	19	21493355	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	1489900	21493355	37635628	278	37320											
MAP3K10	4294	genome.wustl.edu	37	chr19	40711051	40711051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggacccagacccccacGggcggccagatttcggtagc	7	5	14	15	3	0	2	0	0	0	2	1	3	0	3	4	4	1	2	4	4	1	2	rs376121895		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:40711051G>T	ENST00000253055.3	+	4	1324	c.1036G>T	c.(1036-1038)Ggg>Tgg	p.G346W	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	346	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						AGACCCCCACGGGCGGCCAGA	0.602																																																	0													81	87	85					19																	40711051		2203	4300	6503	SO:0001583	missense	0			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.1036G>T	19.37:g.40711051G>T	ENSP00000253055:p.Gly346Trp		Q12761|Q14871	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.G346W	ENST00000253055.3	37	c.1036	CCDS12549.1	19	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417345	0.62622	.	.	ENSG00000130758	ENST00000253055	D	0.82803	-1.65	5.2	2.96	0.34315	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.169383	0.52532	N	0.000071	T	0.80706	0.4674	N	0.25485	0.75	0.40537	D	0.980982	P	0.48911	0.917	P	0.62813	0.907	T	0.79822	-0.1641	10	0.66056	D	0.02	.	4.478	0.11753	0.1816:0.1971:0.6213:0.0	.	346	Q02779	M3K10_HUMAN	W	346	ENSP00000253055:G346W	ENSP00000253055:G346W	G	+	1	0	MAP3K10	45402891	0.025000	0.19082	0.958000	0.39756	0.851000	0.48451	0.516000	0.22817	2.564000	0.86499	0.585000	0.79938	GGG	MAP3K10	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000130758		0.602	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	-	0	32	0	G	NM_002446		40711051	1	tier1	-	no_errors	ENST00000253055	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.950	T	T	40711051	G	T	40711051	3	4	146	1	0	0	0	0	1	0	0	0	9282	1116	39	2	1050	2	MAP3K10	19	40711051	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	19217696	40711051	18417932	279	37321											
TMEM91	641649	genome.wustl.edu	37	chr19	41889665	41889665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccagggggcaggggccGcctcccgccgtgccttcctg	4	6	14	17	3	0	0	0	0	0	0	3	0	3	0	7	4	1	1	7	4	0	1	rs370308690		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:41889665G>A	ENST00000392002.2	+	4	1066	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000539627.1_3'UTR|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000447302.2_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000356385.4_3'UTR|BCKDHA_ENST00000595085.1_Intron	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	136					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						GGCAGGGGCCGCCTCCCGCCG	0.697																																																	0								G	,THR/ALA,,,,	1,4103		0,1,2051	24	30	28		,406,,,,	1.8	1	19		28	0,8338		0,0,4169	no	utr-3,missense,intron,intron,intron,intron	TMEM91	NM_001042595.2,NM_001098821.1,NM_001098822.1,NM_001098823.1,NM_001098824.1,NM_001098825.1	,58,,,,	0,1,6220	AA,AG,GG		0.0,0.0244,0.0080	,,,,,	,136/173,,,,	41889665	1,12441	2052	4169	6221	SO:0001583	missense	0			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.406G>A	19.37:g.41889665G>A	ENSP00000375859:p.Ala136Thr		C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.A136T	ENST00000392002.2	37	c.406	CCDS42571.1	19	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674108	0.67928	2.44E-4	0.0	ENSG00000142046	ENST00000392002	D	0.87729	-2.29	4.09	1.78	0.24846	.	.	.	.	.	T	0.79587	0.4471	L	0.49126	1.545	0.80722	D	1	P	0.51537	0.946	B	0.41174	0.349	T	0.73978	-0.3812	9	0.15499	T	0.54	.	8.1677	0.31237	0.092:0.0:0.7516:0.1563	.	136	Q6ZNR0	TMM91_HUMAN	T	136	ENSP00000375859:A136T	ENSP00000375859:A136T	A	+	1	0	TMEM91	46581505	0.994000	0.37717	0.996000	0.52242	0.998000	0.95712	2.172000	0.42463	1.080000	0.41073	0.561000	0.74099	GCC	TMEM91	-	pfam_CD225/Dispanin_fam	ENSG00000142046		0.697	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM91	HGNC	protein_coding	OTTHUMT00000398302.2	-	0	51	0	G			41889665	1	tier1	-	no_errors	ENST00000392002	ensembl	human	known	74_37	missense	11.96	73	11	SNP	0.986	A	A	41889665	G	A	41889665	3	1	146	1	0	0	0	0	1	0	0	0	16267	1087	38	1	480	1	TMEM91	19	41889665	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1178614	41889665	17239318	280	37322											
ARHGEF1	9138	genome.wustl.edu	37	chr19	42406690	42406690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatctcgctgtagtttgatgGtgctgagggctcctggttcc	5	14	13	9	1	1	2	0	2	1	0	4	2	3	2	2	3	1	6	2	3	2	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:42406690G>T	ENST00000354532.3	+	17	1653	c.1505G>T	c.(1504-1506)gGt>gTt	p.G502V	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.G484V|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.G558V|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.G517V|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.G469V	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	502	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TAGTTTGATGGTGCTGAGGGC	0.577																																																	0													81	79	80					19																	42406690		2203	4300	6503	SO:0001583	missense	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1505G>T	19.37:g.42406690G>T	ENSP00000346532:p.Gly502Val		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G517V	ENST00000354532.3	37	c.1550	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391200	0.62066	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.01	2.95	0.34219	Dbl homology (DH) domain (5);	0.149996	0.42964	D	0.000630	T	0.79764	0.4502	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.79108	0.986;0.992;0.979;0.967;0.985	T	0.81549	-0.0882	10	0.87932	D	0	-11.2171	9.0228	0.36211	0.1131:0.0:0.8868:0.0	.	161;484;517;469;502	Q49AN3;Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;.;ARHG1_HUMAN	V	502;469;517;484	ENSP00000346532:G502V;ENSP00000344429:G469V;ENSP00000337261:G517V;ENSP00000367394:G484V	ENSP00000337261:G517V	G	+	2	0	ARHGEF1	47098530	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	4.394000	0.59671	1.971000	0.57363	0.456000	0.33151	GGT	ARHGEF1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000076928		0.577	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	-	0	36	0	G	NM_199002		42406690	1	tier1	-	no_errors	ENST00000337665	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.967	T	T	42406690	G	T	42406690	3	4	146	1	0	0	0	0	1	0	0	0	893	1261	44	3	1616	3	ARHGEF1	19	42406690	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	517025	42406690	16722293	281	37323											
SCAF1	58506	genome.wustl.edu	37	chr19	50155769	50155769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagcggaccatcacggtggGccggcttgacaagtccgacc	9	5	13	14	4	1	1	1	1	0	0	2	3	2	2	4	4	1	1	4	4	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:50155769G>A	ENST00000360565.3	+	7	2247	c.2123G>A	c.(2122-2124)gGc>gAc	p.G708D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	708	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)		ATCACGGTGGGCCGGCTTGAC	0.692																																																	0													20	18	19					19																	50155769		2192	4298	6490	SO:0001583	missense	0			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.2123G>A	19.37:g.50155769G>A	ENSP00000353769:p.Gly708Asp		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	NULL	p.G708D	ENST00000360565.3	37	c.2123	CCDS33074.1	19	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800362	0.31869	.	.	ENSG00000126461	ENST00000360565	T	0.34275	1.37	3.56	2.48	0.30137	.	0.217442	0.23060	N	0.052393	T	0.22589	0.0545	N	0.24115	0.695	0.27235	N	0.959298	P	0.50156	0.932	P	0.45310	0.476	T	0.05869	-1.0859	9	.	.	.	-22.9789	3.5164	0.07726	0.2193:0.2287:0.552:0.0	.	708	Q9H7N4	SFR19_HUMAN	D	708	ENSP00000353769:G708D	.	G	+	2	0	SCAF1	54847581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.997000	0.49457	0.671000	0.31185	0.561000	0.74099	GGC	SCAF1	-	NULL	ENSG00000126461		0.692	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1	-	0	36	0	G	NM_021228		50155769	1	tier1	-	no_errors	ENST00000360565	ensembl	human	known	74_37	missense	28.17	51	20	SNP	0.911	A	A	50155769	G	A	50155769	3	1	146	1	0	0	0	0	1	0	0	0	13913	1203	42	3	2145	3	SCAF1	19	50155769	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	7749079	50155769	8973214	282	37324											
ZNF880	400713	genome.wustl.edu	37	chr19	52887244	52887244	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaaacatgtcgaaaaaccTatcaacaattccttagtttc	15	13	4	9	1	1	0	1	0	0	0	4	1	2	0	2	0	3	2	2	0	8	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:52887244T>C	ENST00000422689.2	+	4	426	c.411T>C	c.(409-411)ccT>ccC	p.P137P		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	137					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TCGAAAAACCTATCAACAATT	0.303																																																	0													71	58	62					19																	52887244		692	1591	2283	SO:0001819	synonymous_variant	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.411T>C	19.37:g.52887244T>C			B4DNA6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P137	ENST00000422689.2	37	c.411	CCDS46164.1	19																																																																																			ZNF880	-	NULL	ENSG00000221923		0.303	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1		0	53	0	T	NM_001145434		52887244	1			no_errors	ENST00000422689	ensembl	human	known	74_37	silent	6.93	94	7	SNP	0.001	C	C	52887244	T	C	52887244	2	2	146	1	0	0	0	0	0	0	0	1	18245	1509	53	4		4	ZNF880	19	52887244	Silent	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	2731475	52887244	6241739	283	37325											
ZFP28	140612	genome.wustl.edu	37	chr19	57066294	57066294	+	Missense_Mutation	SNP	T	T	A	0	1	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	ggaaggcctttggtgataacTcatcctgtactcaacatcaa	12	11	8	10	0	3	1	3	1	0	0	4	2	4	2	2	3	3	1	2	3	5	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr19:57066294T>A	ENST00000301318.3	+	8	2211	c.2140T>A	c.(2140-2142)Tca>Aca	p.S714T	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	714					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGGTGATAACTCATCCTGTAC	0.433																																					Ovarian(124;554 1662 19430 21141 52494)												0													107	106	106					19																	57066294		2203	4300	6503	SO:0001583	missense	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2140T>A	19.37:g.57066294T>A	ENSP00000301318:p.Ser714Thr		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S714T	ENST00000301318.3	37	c.2140	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	T	11.57	1.678175	0.29783	.	.	ENSG00000196867	ENST00000301318	T	0.17854	2.25	4.0	4.0	0.46444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38164	N	0.001791	T	0.37489	0.1005	M	0.75447	2.3	0.09310	N	0.999994	D	0.71674	0.998	D	0.76071	0.987	T	0.09292	-1.0681	10	0.59425	D	0.04	.	8.7894	0.34841	0.0:0.0:0.1905:0.8095	.	714	Q8NHY6	ZFP28_HUMAN	T	714	ENSP00000301318:S714T	ENSP00000301318:S714T	S	+	1	0	ZFP28	61758106	0.000000	0.05858	1.000000	0.80357	0.977000	0.68977	-0.082000	0.11304	1.808000	0.52836	0.454000	0.30748	TCA	ZFP28	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196867		0.433	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	-	0	30	0	T	NM_020828		57066294	1	tier1	-	no_errors	ENST00000301318	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.034	A	A	57066294	T	A	57066294	3	1	146	1	0	0	0	0	1	0	0	0	17690	1551	54	5	2170	5	ZFP28	19	57066294	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	4179050	57066294	2062689	284	37326											
SDCBP2	27111	genome.wustl.edu	37	chr20	1299025	1299025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggagagggaaagaccCatataattttccagttctgc	11	11	11	8	0	1	2	0	0	1	2	2	4	2	3	2	3	1	2	2	3	3	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr20:1299025C>A	ENST00000360779.3	-	4	335	c.162G>T	c.(160-162)atG>atT	p.M54I	SDCBP2_ENST00000339987.3_Missense_Mutation_p.M54I|SDCBP2_ENST00000381812.1_Missense_Mutation_p.M54I	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	54					intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.M54I(2)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GGGAAAGACCCATATAATTTT	0.483																																																	2	Substitution - Missense(2)	endometrium(2)											81	81	81					20																	1299025		1871	4112	5983	SO:0001583	missense	0			AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.162G>T	20.37:g.1299025C>A	ENSP00000354013:p.Met54Ile		O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M54I	ENST00000360779.3	37	c.162	CCDS42848.1	20	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969981	0.74246	.	.	ENSG00000125775	ENST00000381812;ENST00000360779;ENST00000339987	T;T;T	0.38887	1.11;1.11;1.11	4.82	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	M	0.86651	2.83	0.50171	D	0.999858	B;D	0.69078	0.275;0.997	B;D	0.64506	0.067;0.926	T	0.69595	-0.5103	10	0.72032	D	0.01	-9.5711	10.485	0.44717	0.1928:0.8072:0.0:0.0	.	54;54	B4DKI5;Q9H190	.;SDCB2_HUMAN	I	54	ENSP00000371233:M54I;ENSP00000354013:M54I;ENSP00000342935:M54I	ENSP00000342935:M54I	M	-	3	0	SDCBP2	1247025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.498000	0.60373	1.240000	0.43803	0.655000	0.94253	ATG	SDCBP2	-	NULL	ENSG00000125775		0.483	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCBP2	HGNC	protein_coding	OTTHUMT00000077513.2		0	12	0	C	NM_080489		1299025	-1			no_errors	ENST00000339987	ensembl	human	known	74_37	missense	13.33	13	2	SNP	1.000	A	A	1299025	C	A	1299025	3	1	146	1	0	0	0	0	1	0	0	0	14001	594	21	3	740	3	SDCBP2	20	1299025	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09		1299025	61726495	285	37327											
PTPRA	5786	genome.wustl.edu	37	chr20	3005267	3005267	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattagaggaggagtttaaGgtgagttggagctggataac	12	10	17	2	0	0	2	0	1	0	1	0	7	0	7	0	6	2	3	0	6	3	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr20:3005267G>T	ENST00000216877.6	+	16	1987	c.1587G>T	c.(1585-1587)aaG>aaT	p.K529N	PTPRA_ENST00000425918.2_Splice_Site_p.K549N|PTPRA_ENST00000399903.2_Splice_Site_p.K538N|PTPRA_ENST00000356147.3_Splice_Site_p.K529N|PTPRA_ENST00000318266.5_Splice_Site_p.K529N|PTPRA_ENST00000358719.4_Splice_Site_p.K394N|PTPRA_ENST00000380393.3_Splice_Site_p.K538N	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	538					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						AGGAGTTTAAGGTGAGTTGGA	0.458																																																	0													104	105	105					20																	3005267		2203	4300	6503	SO:0001630	splice_region_variant	0				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.1587+1G>T	20.37:g.3005267G>T			A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K549N	ENST00000216877.6	37	c.1647	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301506	0.81136	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69	5.8	4.66	0.58398	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	U	0.000000	T	0.28067	0.0692	L	0.37630	1.12	0.80722	D	1	P;D;B	0.76494	0.629;0.999;0.188	B;D;B	0.77004	0.364;0.989;0.124	T	0.00956	-1.1501	10	0.87932	D	0	.	15.7488	0.77967	0.0756:0.0:0.9244:0.0	.	549;538;529	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	N	538;529;538;394;148;549;529;529	ENSP00000369756:K538N;ENSP00000216877:K529N;ENSP00000382787:K538N;ENSP00000351559:K394N;ENSP00000393553:K549N;ENSP00000314568:K529N;ENSP00000348468:K529N	ENSP00000216877:K529N	K	+	3	2	PTPRA	2953267	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.742000	0.74843	2.758000	0.94735	0.561000	0.74099	AAG	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132670		0.458	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3		0	68	0	G		Missense_Mutation	3005267	1			no_errors	ENST00000425918	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	3005267	G	T	3005267	5	4	146	1	0	0	0	0	0	0	1	0	12840	1014	35	3	1668	3	PTPRA	20	3005267	Splice_Site	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1706242	3005267	60020253	286	37328											
C20orf132	140699	genome.wustl.edu	37	chr20	35743674	35743674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatctggatggctgacagaaCgatcttctcatcggtttcac	9	13	9	10	2	4	2	2	1	3	1	6	4	4	3	0	3	1	2	0	3	2	3	rs370293792		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr20:35743674C>T	ENST00000400441.3	-	19	2436	c.2437G>A	c.(2437-2439)Gtt>Att	p.V813I	MROH8_ENST00000441008.2_Missense_Mutation_p.V799I|MROH8_ENST00000217333.8_Missense_Mutation_p.V642I			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	GCTGACAGAACGATCTTCTCA	0.468																																																	0								C	ILE/VAL	2,4068		0,2,2033	250	242	244		2438	3.3	0.7	20		244	0,8368		0,0,4184	no	missense	C20orf132	NM_152503.4	29	0,2,6217	TT,TC,CC		0.0,0.0491,0.0161	benign	823/1053	35743674	2,12436	2035	4184	6219	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2437G>A	20.37:g.35743674C>T	ENSP00000383291:p.Val813Ile		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V813I	ENST00000400441.3	37	c.2437		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.979|6.979	0.550574|0.550574	0.13374|0.13374	4.91E-4|4.91E-4	0.0|0.0	ENSG00000101353|ENSG00000101353	ENST00000417458|ENST00000441008;ENST00000400441;ENST00000217333	.|T;T;T	.|0.65732	.|-0.17;1.47;-0.14	5.27|5.27	3.31|3.31	0.37934|0.37934	.|.	.|0.443676	.|0.21221	.|N	.|0.078160	T|T	0.36441|0.36441	0.0967|0.0967	N|N	0.19112|0.19112	0.55|0.55	0.23076|0.23076	N|N	0.998339|0.998339	.|B;P	.|0.39964	.|0.081;0.697	.|B;B	.|0.29440	.|0.029;0.102	T|T	0.12604|0.12604	-1.0541|-1.0541	5|10	.|0.23302	.|T	.|0.38	-10.6196|-10.6196	7.4717|7.4717	0.27353|0.27353	0.0:0.7972:0.0:0.2028|0.0:0.7972:0.0:0.2028	.|.	.|813;647	.|E7ETR9;Q9H579-2	.|.;.	H|I	440|799;813;642	.|ENSP00000392144:V799I;ENSP00000383291:V813I;ENSP00000217333:V642I	.|ENSP00000217333:V642I	R|V	-|-	2|1	0|0	C20orf132|C20orf132	35177088|35177088	0.448000|0.448000	0.25681|0.25681	0.668000|0.668000	0.29813|0.29813	0.036000|0.036000	0.12997|0.12997	0.071000|0.071000	0.14594|0.14594	0.685000|0.685000	0.31468|0.31468	0.655000|0.655000	0.94253|0.94253	CGT|GTT	MROH8	-	superfamily_ARM-type_fold	ENSG00000101353		0.468	MROH8-202	KNOWN	basic|appris_principal	protein_coding	MROH8	HGNC	protein_coding		-	0	55	0	C	NM_152503		35743674	-1	tier1	-	no_errors	ENST00000400441	ensembl	human	known	74_37	missense	28.30	75	30	SNP	0.836	T	T	35743674	C	T	35743674	3	4	146	1	0	0	0	0	1	0	0	0	2093	536	19	1	715	1	C20orf132	20	35743674	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	32738407	35743674	27281846	287	37329											
MATN4	8785	genome.wustl.edu	37	chr20	43933251	43933251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagagaacgcgcggagaGggaagacgctctgcacttga	11	4	17	9	5	1	4	0	1	1	3	1	8	1	5	0	3	2	2	0	3	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr20:43933251G>A	ENST00000372754.1	-	2	268	c.260C>T	c.(259-261)cCt>cTt	p.P87L	RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.P87L|MATN4_ENST00000353917.5_Missense_Mutation_p.P87L|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000360607.6_Missense_Mutation_p.P87L|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000342716.4_Missense_Mutation_p.P87L|MATN4_ENST00000537548.1_Missense_Mutation_p.P87L			O95460	MATN4_HUMAN	matrilin 4	87	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGCGCGGAGAGGGAAGACGCT	0.657																																																	0													36	33	34					20																	43933251		2202	4300	6502	SO:0001583	missense	0			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.260C>T	20.37:g.43933251G>A	ENSP00000361840:p.Pro87Leu		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A	p.P87L	ENST00000372754.1	37	c.260		20	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813355	0.32053	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.18	2.16	0.27623	.	0.175410	0.27554	N	0.018845	T	0.67720	0.2923	N	0.13327	0.33	0.80722	D	1	B;B;B	0.24317	0.049;0.101;0.004	B;B;B	0.31946	0.057;0.138;0.007	T	0.59247	-0.7490	10	0.34782	T	0.22	.	13.1219	0.59331	0.0:0.3068:0.6932:0.0	.	87;87;87	A6NNA4;O95460-4;O95460-2	.;.;.	L	87	ENSP00000361840:P87L;ENSP00000361842:P87L;ENSP00000243983:P87L;ENSP00000353819:P87L;ENSP00000343164:P87L;ENSP00000440328:P87L	ENSP00000255132:P87L	P	-	2	0	MATN4	43366665	1.000000	0.71417	0.681000	0.30009	0.443000	0.32047	5.845000	0.69437	0.381000	0.24851	0.462000	0.41574	CCT	MATN4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000124159		0.657	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	HGNC	protein_coding	OTTHUMT00000080335.1		0	29	0	G			43933251	-1			no_errors	ENST00000372754	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	A	A	43933251	G	A	43933251	3	1	146	1	0	0	0	0	1	0	0	0	9374	1000	35	3	1517	3	MATN4	20	43933251	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	8189577	43933251	19092269	288	37330											
DDX27	55661	genome.wustl.edu	37	chr20	47846772	47846772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaggaagcagctcttcGggcagcgcctgacatcctca	8	8	11	14	2	3	1	2	1	2	0	6	2	4	2	2	2	3	3	2	2	1	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr20:47846772G>T	ENST00000371764.4	+	9	1019	c.1010G>T	c.(1009-1011)cGg>cTg	p.R337L	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	337	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGCTCTTCGGGCAGCGCCT	0.612																																																	0													54	49	51					20																	47846772		2203	4300	6503	SO:0001583	missense	0			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1010G>T	20.37:g.47846772G>T	ENSP00000360828:p.Arg337Leu		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R337L	ENST00000371764.4	37	c.1010	CCDS13416.1	20	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623297	0.66901	.	.	ENSG00000124228	ENST00000371764	T	0.15372	2.43	4.94	4.94	0.65067	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24621	-1.0155	10	0.87932	D	0	-19.184	15.6671	0.77238	0.0:0.0:1.0:0.0	.	337	Q96GQ7	DDX27_HUMAN	L	337	ENSP00000360828:R337L	ENSP00000360828:R337L	R	+	2	0	DDX27	47280179	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	9.631000	0.98424	2.303000	0.77524	0.462000	0.41574	CGG	DDX27	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000124228		0.612	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1		0	25	0	G			47846772	1			no_errors	ENST00000371764	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	47846772	G	T	47846772	3	4	146	1	0	0	0	0	1	0	0	0	4363	1116	39	2	1044	2	DDX27	20	47846772	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	3913521	47846772	15178748	289	37331											
C20orf107	388799	genome.wustl.edu	37	chr20	55108439	55108439	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtcctgcttctgtgcctCacctgcagctatgcctttat	4	15	8	14	0	2	0	1	0	1	0	3	0	3	0	4	1	5	3	4	1	2	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr20:55108439C>G	ENST00000371325.1	+	1	138	c.42C>G	c.(40-42)ctC>ctG	p.L14L		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	14						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TTCTGTGCCTCACCTGCAGCT	0.557																																																	0													94	85	88					20																	55108439		2203	4296	6499	SO:0001819	synonymous_variant	0			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.42C>G	20.37:g.55108439C>G			Q3KRB5	Silent	SNP	NULL	p.L14	ENST00000371325.1	37	c.42	CCDS33494.1	20																																																																																			FAM209B	-	NULL	ENSG00000213714		0.557	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209B	HGNC	protein_coding	OTTHUMT00000079816.1	-	0	40	0	C			55108439	1	tier1	-	no_errors	ENST00000371325	ensembl	human	known	74_37	silent	13.33	52	8	SNP	0.000	G	G	55108439	C	G	55108439	2	3	146	1	0	0	0	0	0	0	0	1	2084	813	29	5		5	C20orf107	20	55108439	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	7261667	55108439	7917081	290	37332											
DIDO1	11083	genome.wustl.edu	37	chr20	61542195	61542195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctcacattcaggcttcGgtcggcccaagtctccaggc	8	8	9	16	2	3	0	2	0	1	0	6	0	3	0	3	4	1	1	3	4	2	2	rs149450567	byFrequency	TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr20:61542195G>T	ENST00000266070.4	-	3	1095	c.770C>A	c.(769-771)cCg>cAg	p.P257Q	DIDO1_ENST00000395335.2_Missense_Mutation_p.P257Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.P257Q|DIDO1_ENST00000370366.1_Missense_Mutation_p.P257Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.P257Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.P257Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.P257Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.P257Q|DIDO1_ENST00000370368.1_Missense_Mutation_p.P257Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	257					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)					TTCAGGCTTCGGTCGGCCCAA	0.567																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													155	152	153					20																	61542195		2203	4300	6503	SO:0001583	missense	0			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.770C>A	20.37:g.61542195G>T	ENSP00000266070:p.Pro257Gln		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.P257Q	ENST00000266070.4	37	c.770	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	G	5.027	0.190586	0.09547	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.18657	3.06;3.06;2.69;2.69;2.2;2.2;2.2;2.22;2.22	5.31	1.89	0.25635	Zinc finger, FYVE/PHD-type (1);	1.037320	0.07739	U	0.946643	T	0.08846	0.0219	N	0.08118	0	0.09310	N	1	B;B;B;B	0.21821	0.032;0.035;0.057;0.061	B;B;B;B	0.18561	0.022;0.012;0.015;0.007	T	0.40021	-0.9585	10	0.12766	T	0.61	-7.4673	3.0778	0.06252	0.1232:0.2046:0.5257:0.1464	.	257;257;257;257	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	Q	257	ENSP00000266070:P257Q;ENSP00000378752:P257Q;ENSP00000378749:P257Q;ENSP00000378744:P257Q;ENSP00000359397:P257Q;ENSP00000359394:P257Q;ENSP00000346692:P257Q;ENSP00000359391:P257Q;ENSP00000266071:P257Q	ENSP00000266070:P257Q	P	-	2	0	DIDO1	61012640	0.029000	0.19370	0.002000	0.10522	0.025000	0.11179	1.112000	0.31172	0.478000	0.27488	0.561000	0.74099	CCG	DIDO1	-	superfamily_Znf_FYVE_PHD	ENSG00000101191		0.567	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0	38	0	G	NM_080796		61542195	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	6.67	55	4	SNP	0.003	T	T	61542195	G	T	61542195	3	4	146	1	0	0	0	0	1	0	0	0	4536	1116	39	2	6138	2	DIDO1	20	61542195	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	6433756	61542195	1483325	291	37333											
SAMSN1	64092	genome.wustl.edu	37	chr21	15882762	15882762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccggttacttgtaccatCtgaacagcttgttatgccac	8	13	8	12	1	1	1	0	1	1	0	2	1	2	1	3	1	5	4	3	1	4	5			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr21:15882762C>T	ENST00000400566.1	-	5	511	c.430G>A	c.(430-432)Gat>Aat	p.D144N	SAMSN1_ENST00000285670.2_Missense_Mutation_p.D212N|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	144					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)		CTTGTACCATCTGAACAGCTT	0.463																																																	0													100	95	97					21																	15882762		2064	4213	6277	SO:0001583	missense	0			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.430G>A	21.37:g.15882762C>T	ENSP00000383411:p.Asp144Asn		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.D144N	ENST00000400566.1	37	c.430	CCDS42906.1	21	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383904	0.42308	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.44482	0.92;0.92	5.78	5.78	0.91487	.	0.103153	0.64402	D	0.000003	T	0.63319	0.2501	M	0.70275	2.135	0.51482	D	0.999928	D;P	0.89917	1.0;0.901	D;P	0.87578	0.998;0.583	T	0.55373	-0.8151	10	0.10902	T	0.67	-24.7453	20.012	0.97458	0.0:1.0:0.0:0.0	.	212;144	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	N	212;144	ENSP00000285670:D212N;ENSP00000383411:D144N	ENSP00000285670:D212N	D	-	1	0	SAMSN1	14804633	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.486000	0.60286	2.731000	0.93534	0.655000	0.94253	GAT	SAMSN1	-	pfam_rSAM/SH3_domain-containing	ENSG00000155307		0.463	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMSN1	HGNC	protein_coding	OTTHUMT00000157914.1	-	0	56	0	C			15882762	-1	tier1	-	no_errors	ENST00000400566	ensembl	human	known	74_37	missense	9.09	70	7	SNP	1.000	T	T	15882762	C	T	15882762	3	4	146	1	0	0	0	0	1	0	0	0	13875	913	32	3	707	3	SAMSN1	21	15882762	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09		15882762	32247133	292	37334											
TIAM1	7074	genome.wustl.edu	37	chr21	32537327	32537327	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattccaagtctggcccctcGgtctcctctggagcggtctc	4	11	11	15	2	4	0	0	0	4	0	8	2	5	1	4	4	1	0	4	4	1	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr21:32537327G>T	ENST00000286827.3	-	17	3414	c.2943C>A	c.(2941-2943)acC>acA	p.T981T	TIAM1_ENST00000541036.1_Silent_p.T921T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	981					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						CTGGCCCCTCGGTCTCCTCTG	0.502																																																	0													86	81	83					21																	32537327		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2943C>A	21.37:g.32537327G>T			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.T981	ENST00000286827.3	37	c.2943	CCDS13609.1	21																																																																																			TIAM1	-	NULL	ENSG00000156299		0.502	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1		0	22	0	G	NM_003253		32537327	-1			no_errors	ENST00000286827	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.196	T	T	32537327	G	T	32537327	2	4	146	1	0	0	0	0	0	0	0	1	15937	1103	39	2		2	TIAM1	21	32537327	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	16654565	32537327	15592568	293	37335											
HUNK	30811	genome.wustl.edu	37	chr21	33371416	33371416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagataggcccctggaGgccagcctgcccccactgca	7	6	11	17	0	1	1	0	0	1	1	1	2	1	2	6	3	4	2	6	3	1	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr21:33371416G>T	ENST00000270112.2	+	11	2424	c.2064G>T	c.(2062-2064)gaG>gaT	p.E688D		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	688					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						GGCCCCTGGAGGCCAGCCTGC	0.597																																																	0													57	64	62					21																	33371416		2203	4300	6503	SO:0001583	missense	0			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.2064G>T	21.37:g.33371416G>T	ENSP00000270112:p.Glu688Asp			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E688D	ENST00000270112.2	37	c.2064	CCDS13610.1	21	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415871	0.25552	.	.	ENSG00000142149	ENST00000270112	T	0.72505	-0.66	4.42	1.59	0.23543	.	0.086934	0.47455	N	0.000223	T	0.51244	0.1663	L	0.29908	0.895	0.33722	D	0.617122	B	0.06786	0.001	B	0.06405	0.002	T	0.45920	-0.9228	10	0.42905	T	0.14	-22.2686	3.7951	0.08736	0.4128:0.181:0.4062:0.0	.	688	P57058	HUNK_HUMAN	D	688	ENSP00000270112:E688D	ENSP00000270112:E688D	E	+	3	2	HUNK	32293287	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	0.416000	0.21198	0.135000	0.18707	-0.218000	0.12543	GAG	HUNK	-	NULL	ENSG00000142149		0.597	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	HGNC	protein_coding	OTTHUMT00000192782.1		0	50	0	G	NM_014586		33371416	1			no_errors	ENST00000270112	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	33371416	G	T	33371416	3	4	146	1	0	0	0	0	1	0	0	0	7485	991	35	3	2106	3	HUNK	21	33371416	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	834089	33371416	14758479	294	37336											
RIPK4	54101	genome.wustl.edu	37	chr21	43187118	43187118	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgaagccgcccgagccCaccttctcccagcccgtgaa	7	5	9	20	4	1	1	0	1	1	0	2	3	1	1	7	0	4	0	7	0	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr21:43187118C>G	ENST00000352483.2	-	1	148	c.84G>C	c.(82-84)gtG>gtC	p.V28V	RIPK4_ENST00000542057.1_5'Flank|RIPK4_ENST00000332512.3_Silent_p.V28V|RIPK4_ENST00000544709.1_5'Flank			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	28	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						CGCCCGAGCCCACCTTCTCCC	0.692																																																	0													32	27	29					21																	43187118		2203	4294	6497	SO:0001819	synonymous_variant	0			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.84G>C	21.37:g.43187118C>G			Q96KH0	Silent	SNP	pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V28	ENST00000352483.2	37	c.84		21																																																																																			RIPK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000183421		0.692	RIPK4-201	KNOWN	basic	protein_coding	RIPK4	HGNC	protein_coding		-	0	20	0	C	NM_020639		43187118	-1	tier1	-	no_errors	ENST00000352483	ensembl	human	known	74_37	silent	22.73	17	5	SNP	0.997	G	G	43187118	C	G	43187118	2	3	146	1	0	0	0	0	0	0	0	1	13428	581	21	5		5	RIPK4	21	43187118	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	9815702	43187118	4942777	295	37337											
PRDM15	63977	genome.wustl.edu	37	chr21	43287442	43287442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatcttccccagggctggggGcagattttcctggttccccc	5	11	11	14	0	1	1	0	0	1	1	4	1	4	1	5	4	0	3	5	4	1	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr21:43287442G>A	ENST00000269844.3	-	5	696	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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						AGGGCTGGGGGCAGATTTTCC	0.507																																																	0													97	101	99					21																	43287442		2203	4300	6503	SO:0001583	missense	0			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.586C>T	21.37:g.43287442G>A	ENSP00000269844:p.Pro196Ser		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.P196S	ENST00000269844.3	37	c.586	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	G	4.671	0.124737	0.08931	.	.	ENSG00000141956	ENST00000269844	T	0.10668	2.85	0.467	-0.895	0.10560	.	.	.	.	.	T	0.07548	0.0190	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.50440	0.641	T	0.27468	-1.0073	8	0.87932	D	0	.	.	.	.	.	196	P57071	PRD15_HUMAN	S	196	ENSP00000269844:P196S	ENSP00000269844:P196S	P	-	1	0	PRDM15	42160511	0.002000	0.14202	0.002000	0.10522	0.008000	0.06430	-0.127000	0.10547	-0.460000	0.07003	-1.027000	0.02421	CCC	PRDM15	-	NULL	ENSG00000141956		0.507	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		-	0	37	0	G	NM_022115		43287442	-1	tier1	-	no_errors	ENST00000269844	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.002	A	A	43287442	G	A	43287442	3	1	146	1	0	0	0	0	1	0	0	0	12498	1203	42	3	4045	3	PRDM15	21	43287442	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	100324	43287442	4842453	296	37338											
AIRE	326	genome.wustl.edu	37	chr21	45710820	45710820	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggggaacaggtggtcaggGcagaatttcaggccctggca	10	7	16	8	0	2	1	2	0	0	1	2	2	2	2	1	7	1	2	1	7	2	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr21:45710820G>A	ENST00000291582.5	+	8	1006				AIRE_ENST00000329347.4_Missense_Mutation_p.G44D|AIRE_ENST00000355347.4_Missense_Mutation_p.G44D	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator						humoral immune response (GO:0006959)|immune response (GO:0006955)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGTGGTCAGGGCAGAATTTCA	0.602									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																																								0													95	107	103					21																	45710820		2203	4300	6503	SO:0001627	intron_variant	0	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.880-158G>A	21.37:g.45710820G>A			B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G44D	ENST00000291582.5	37	c.131	CCDS13706.1	21	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994376	0.35226	.	.	ENSG00000160224	ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	D;D	0.96830	-4.07;-4.14	1.99	0.0655	0.14357	.	.	.	.	.	D	0.87849	0.6281	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.21151	0.033	T	0.80111	-0.1519	9	0.87932	D	0	.	2.5345	0.04711	0.1758:0.0:0.5379:0.2863	.	44	B2RP50	.	D	44	ENSP00000347505:G44D;ENSP00000331055:G44D	ENSP00000331055:G44D	G	+	2	0	AIRE	44535248	.	.	0.001000	0.08648	0.005000	0.04900	.	.	0.004000	0.14682	0.462000	0.41574	GGC	AIRE	-	NULL	ENSG00000160224		0.602	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIRE	HGNC	protein_coding	OTTHUMT00000195842.2	-	0	43	0	G			45710820	1	tier1	-	no_errors	ENST00000355347	ensembl	human	known	74_37	missense	6.45	57	4	SNP	0.001	A	A	45710820	G	A	45710820	1	1	146	0	1	0	0	0	0	0	0	0	437	1203	42	3		3	AIRE	21	45710820	Intron	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	2423378	45710820	2419075	297	37339											
PCNT	5116	genome.wustl.edu	37	chr21	47821471	47821471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttttttaataggataaaGaggtgttaaagaaacagcag	16	14	9	2	0	0	2	0	0	0	2	0	3	0	3	0	2	2	2	0	2	7	8			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr21:47821471G>C	ENST00000359568.5	+	26	4905	c.4798G>C	c.(4798-4800)Gag>Cag	p.E1600Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1600					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)					ATAGGATAAAGAGGTGTTAAA	0.448																																																	0													62	62	62					21																	47821471		2203	4300	6503	SO:0001583	missense	0			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.4798G>C	21.37:g.47821471G>C	ENSP00000352572:p.Glu1600Gln		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.E1600Q	ENST00000359568.5	37	c.4798	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403778	0.42613	.	.	ENSG00000160299	ENST00000359568	T	0.61158	0.13	5.64	5.64	0.86602	.	1.284110	0.05957	N	0.639867	T	0.78123	0.4234	M	0.65975	2.015	0.28112	N	0.930979	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.946	T	0.68021	-0.5519	10	0.66056	D	0.02	.	17.1775	0.86845	0.0:0.0:1.0:0.0	.	1482;1600	O95613-2;O95613	.;PCNT_HUMAN	Q	1600	ENSP00000352572:E1600Q	ENSP00000352572:E1600Q	E	+	1	0	PCNT	46645899	1.000000	0.71417	0.594000	0.28785	0.117000	0.20001	4.570000	0.60872	2.661000	0.90470	0.655000	0.94253	GAG	PCNT	-	NULL	ENSG00000160299		0.448	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	-	0	25	0	G	NM_006031		47821471	1	tier1	-	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	C	C	47821471	G	C	47821471	3	2	146	1	0	0	0	0	1	0	0	0	11629	943	33	5	4900	5	PCNT	21	47821471	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	2110651	47821471	308424	298	37340											
MIF	4282	genome.wustl.edu	37	chr22	24237106	24237106	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgcggcctgctggccGagcgcctgcgcatcagcccg	3	7	15	16	5	1	0	1	0	0	0	1	1	1	0	4	2	6	3	4	2	0	0	rs201060788		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr22:24237106G>T	ENST00000215754.7	+	2	727	c.256G>T	c.(256-258)Gag>Tag	p.E86*	AP000350.10_ENST00000433835.3_Silent_p.P193P|AP000350.4_ENST00000406213.1_3'UTR	NM_002415.1	NP_002406.1	P03971	MIS_HUMAN	macrophage migration inhibitory factor (glycosylation-inhibiting factor)	542					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)			urinary_tract(1)	1						CCTGCTGGCCGAGCGCCTGCG	0.746																																																	0													3	4	3					22																	24237106		1914	3862	5776	SO:0001587	stop_gained	0			M25639	CCDS13819.1	22q11.23	2007-04-26			ENSG00000240972	ENSG00000240972			7097	protein-coding gene	gene with protein product		153620		GLIF		7558020, 2552447	Standard	NM_002415		Approved	GIF	uc002zyr.1	P14174	OTTHUMG00000150773	ENST00000215754.7:c.256G>T	22.37:g.24237106G>T	ENSP00000215754:p.Glu86*		O75246|Q6GTN3	Nonsense_Mutation	SNP	pfam_Macrophage_inhib_fac,superfamily_Tautomerase/MIF_sf	p.E86*	ENST00000215754.7	37	c.256	CCDS13819.1	22	.	.	.	.	.	.	.	.	.	.	N	39	7.612746	0.98390	.	.	ENSG00000240972	ENST00000215754	.	.	.	5.09	-0.334	0.12666	.	0.218816	0.45867	D	0.000337	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8663	0.6509	0.00826	0.1681:0.198:0.2357:0.3981	.	.	.	.	X	86	.	ENSP00000215754:E86X	E	+	1	0	MIF	22567106	1.000000	0.71417	0.999000	0.59377	0.668000	0.39293	4.843000	0.62838	0.217000	0.20800	0.291000	0.19559	GAG	MIF	-	pfam_Macrophage_inhib_fac,superfamily_Tautomerase/MIF_sf	ENSG00000240972		0.746	MIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIF	HGNC	protein_coding	OTTHUMT00000320009.1		0	18	0	G	NM_002415		24237106	1			no_errors	ENST00000215754	ensembl	human	known	74_37	nonsense	9.09	30	3	SNP	1.000	T	T	24237106	G	T	24237106	4	4	146	1	0	0	0	0	0	1	0	0	9621	1059	37	2	262	2	MIF	22	24237106	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09		24237106	27067460	299	37341											
HPS4	89781	genome.wustl.edu	37	chr22	26860050	26860050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaggggccagcaccctGacagtttgctgagcctgaac	9	7	13	12	0	0	4	0	3	0	1	0	4	0	4	3	2	5	4	3	2	1	1	rs372833027		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr22:26860050G>T	ENST00000398145.2	-	11	2162	c.1546C>A	c.(1546-1548)Cag>Aag	p.Q516K	HPS4_ENST00000402105.3_Missense_Mutation_p.Q511K|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000398141.1_Missense_Mutation_p.Q529K|HPS4_ENST00000336873.5_Missense_Mutation_p.Q516K	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	516					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						CCAGCACCCTGACAGTTTGCT	0.582									Hermansky-Pudlak syndrome																																								0													100	97	98					22																	26860050		2203	4300	6503	SO:0001583	missense	0	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.1546C>A	22.37:g.26860050G>T	ENSP00000381213:p.Gln516Lys		B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	NULL	p.Q529K	ENST00000398145.2	37	c.1585	CCDS13835.1	22	.	.	.	.	.	.	.	.	.	.	G	1.488	-0.555292	0.03967	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.42	2.27	0.28462	.	0.825859	0.10682	N	0.646264	T	0.21307	0.0513	L	0.35723	1.085	0.09310	N	1	B;B;B;B;B;B	0.17667	0.023;0.023;0.023;0.023;0.023;0.023	B;B;B;B;B;B	0.18561	0.022;0.01;0.01;0.022;0.022;0.01	T	0.28427	-1.0044	9	.	.	.	-0.0733	5.1283	0.14896	0.1061:0.0:0.69:0.2038	.	516;516;516;516;529;511	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	K	516;529;511;516	ENSP00000381213:Q516K;ENSP00000381210:Q529K;ENSP00000384185:Q511K;ENSP00000338457:Q516K	.	Q	-	1	0	HPS4	25190050	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	2.092000	0.41700	0.476000	0.27440	0.655000	0.94253	CAG	HPS4	-	NULL	ENSG00000100099		0.582	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1		0	36	0	G	NM_022081		26860050	-1			no_errors	ENST00000398141	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	T	T	26860050	G	T	26860050	3	4	146	1	0	0	0	0	1	0	0	0	7368	1299	45	3	596	3	HPS4	22	26860050	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	2622944	26860050	24444516	300	37342											
APOL5	80831	genome.wustl.edu	37	chr22	36122764	36122764	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcacatgaggctttcggaGgaataaattggtctgaaatc	13	11	10	7	1	2	2	1	2	1	0	4	4	2	4	0	4	0	1	0	4	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr22:36122764G>T	ENST00000249044.2	+	3	649	c.649G>T	c.(649-651)Gga>Tga	p.G217*		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	217					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						GGCTTTCGGAGGAATAAATTG	0.443																																																	0													130	141	137					22																	36122764		2203	4300	6503	SO:0001587	stop_gained	0			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.649G>T	22.37:g.36122764G>T	ENSP00000249044:p.Gly217*		Q5TFL9|Q9UGW5	Nonsense_Mutation	SNP	pfam_ApoL	p.G217*	ENST00000249044.2	37	c.649	CCDS13920.1	22	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598803	0.46318	.	.	ENSG00000128313	ENST00000249044	.	.	.	3.86	1.4	0.22301	.	3.319490	0.01574	U	0.020739	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	4.5448	0.12076	0.1365:0.0:0.6566:0.2069	.	.	.	.	X	217	.	ENSP00000249044:G217X	G	+	1	0	APOL5	34452710	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.115000	0.10741	0.027000	0.15297	0.609000	0.83330	GGA	APOL5	-	pfam_ApoL	ENSG00000128313		0.443	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL5	HGNC	protein_coding	OTTHUMT00000318979.1	-	0	29	0	G	NM_030642		36122764	1	tier1	-	no_errors	ENST00000249044	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	0.000	T	T	36122764	G	T	36122764	4	4	146	1	0	0	0	0	0	1	0	0	809	1001	35	3	659	3	APOL5	22	36122764	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	9262714	36122764	15181802	301	37343											
APOL3	80833	genome.wustl.edu	37	chr22	36556899	36556899	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctcctgatcaaacatgcaAaacaggatgcttcccagccc	13	7	7	14	0	1	1	1	1	0	0	3	2	3	2	3	1	6	3	3	1	3	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr22:36556899A>C	ENST00000349314.2	-	1	78	c.41T>G	c.(40-42)tTt>tGt	p.F14C	APOL3_ENST00000361710.2_Intron|APOL3_ENST00000424878.2_Intron|APOL3_ENST00000397293.2_5'UTR|APOL3_ENST00000397287.2_Intron	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	14					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						CAAACATGCAAAACAGGATGC	0.547																																																	0													107	78	88					22																	36556899		2203	4300	6503	SO:0001583	missense	0			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.41T>G	22.37:g.36556899A>C	ENSP00000344577:p.Phe14Cys		B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	pfam_ApoL	p.F14C	ENST00000349314.2	37	c.41	CCDS13922.1	22	.	.	.	.	.	.	.	.	.	.	A	6.712	0.499978	0.12762	.	.	ENSG00000128284	ENST00000349314	T	0.05081	3.5	1.97	1.97	0.26223	.	24.677000	0.02948	N	0.141302	T	0.05410	0.0143	N	0.08118	0	0.21220	N	0.999756	D	0.67145	0.996	P	0.46172	0.506	T	0.29822	-0.9999	10	0.54805	T	0.06	.	5.9889	0.19450	1.0:0.0:0.0:0.0	.	14	O95236	APOL3_HUMAN	C	14	ENSP00000344577:F14C	ENSP00000344577:F14C	F	-	2	0	APOL3	34886845	0.004000	0.15560	0.001000	0.08648	0.013000	0.08279	1.050000	0.30404	1.155000	0.42497	0.491000	0.48974	TTT	APOL3	-	NULL	ENSG00000128284		0.547	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APOL3	HGNC	protein_coding	OTTHUMT00000319268.1		0	20	0	A	NM_145641		36556899	-1			no_errors	ENST00000349314	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.001	C	C	36556899	A	C	36556899	3	2	146	1	0	0	0	0	1	0	0	0	807	14	1	4	1179	4	APOL3	22	36556899	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	434135	36556899	14747667	302	37344											
CSF2RB	1439	genome.wustl.edu	37	chr22	37325448	37325448	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	acttcctcccctccagtccaGcctcctgagcccagggacct	6	8	7	20	0	0	1	0	1	0	0	5	2	5	2	9	1	2	0	9	1	0	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr22:37325448G>T	ENST00000403662.3	+	5	618	c.396G>T	c.(394-396)caG>caT	p.Q132H	CSF2RB_ENST00000406230.1_Missense_Mutation_p.Q132H|CSF2RB_ENST00000262825.5_Missense_Mutation_p.Q132H|CSF2RB_ENST00000536485.1_Missense_Mutation_p.Q73H			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	132					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)	CTCCAGTCCAGCCTCCTGAGC	0.652																																																	0													100	99	100					22																	37325448		2203	4300	6503	SO:0001583	missense	0			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.396G>T	22.37:g.37325448G>T	ENSP00000384053:p.Gln132His		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q132H	ENST00000403662.3	37	c.396	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776683	0.31411	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.16	5.16	0.70880	Fibronectin, type III (1);	0.000000	0.43110	D	0.000602	T	0.65460	0.2693	M	0.62016	1.91	0.38185	D	0.939747	P;P	0.36171	0.456;0.541	B;B	0.35278	0.199;0.115	T	0.73363	-0.4006	10	0.72032	D	0.01	-17.2342	15.9195	0.79552	0.0:0.0:1.0:0.0	.	132;132	P32927-2;P32927	.;IL3RB_HUMAN	H	132;132;132;132;52;73	ENSP00000384053:Q132H;ENSP00000262825:Q132H;ENSP00000385271:Q132H;ENSP00000393585:Q52H;ENSP00000440003:Q73H	ENSP00000262825:Q132H	Q	+	3	2	CSF2RB	35655394	1.000000	0.71417	0.999000	0.59377	0.155000	0.21991	3.737000	0.55060	2.543000	0.85770	0.655000	0.94253	CAG	CSF2RB	-	pirsf_IL3_rcpt_beta,superfamily_Fibronectin_type3	ENSG00000100368		0.652	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	-	0	31	0	G	NM_000395		37325448	1	tier1	-	no_errors	ENST00000262825	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	37325448	G	T	37325448	3	4	146	1	0	0	0	0	1	0	0	0	3944	962	34	3	410	3	CSF2RB	22	37325448	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	768549	37325448	13979118	303	37345											
TST	7263	genome.wustl.edu	37	chr22	37407109	37407109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggacacacggctctctgGgggggcccggcgaaaccact	7	5	15	14	3	1	0	0	0	1	0	2	2	1	1	2	6	1	1	2	6	1	0	rs11554714	byFrequency	TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr22:37407109G>T	ENST00000403892.3	-	2	1587	c.853C>A	c.(853-855)Cca>Aca	p.P285T	Y_RNA_ENST00000516603.1_RNA|TST_ENST00000249042.3_Missense_Mutation_p.P285T	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	285	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CGGCTCTCTGGGGGGGCCCGG	0.622																																																	0			GRCh37	CM067799	TST	M	rs11554714						53	58	56					22																	37407109		2202	4296	6498	SO:0001583	missense	0			Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.853C>A	22.37:g.37407109G>T	ENSP00000385828:p.Pro285Thr		B3KRM1|Q6IB06	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.P285T	ENST00000403892.3	37	c.853	CCDS13938.1	22	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259873	0.80246	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912	T;T	0.57107	0.42;0.42	5.08	5.08	0.68730	Rhodanese-like (3);	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	N	0.20530	0.585	0.80722	D	1	B	0.27997	0.197	B	0.35931	0.214	T	0.49303	-0.8954	10	0.62326	D	0.03	0.0104	18.6721	0.91516	0.0:0.0:1.0:0.0	.	285	Q16762	THTR_HUMAN	T	285;285;232	ENSP00000385828:P285T;ENSP00000249042:P285T	ENSP00000249042:P285T	P	-	1	0	TST	35737055	1.000000	0.71417	0.816000	0.32577	0.592000	0.36648	5.719000	0.68462	2.636000	0.89361	0.655000	0.94253	CCA	TST	-	superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000128311		0.622	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TST	HGNC	protein_coding	OTTHUMT00000318790.1		0	17	0	G			37407109	-1			no_errors	ENST00000249042	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.997	T	T	37407109	G	T	37407109	3	4	146	1	0	0	0	0	1	0	0	0	16721	1232	43	3	44	3	TST	22	37407109	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	81661	37407109	13897457	304	37346											
EP300	2033	genome.wustl.edu	37	chr22	41565565	41565565	+	Missense_Mutation	SNP	A	A	G	1	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	tccgtcctaaatgcttgaggActgcagtctatcatgaaatc	11	12	8	10	1	2	2	1	2	1	0	5	3	4	3	2	1	2	2	2	1	4	3			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chr22:41565565A>G	ENST00000263253.7	+	26	5450	c.4231A>G	c.(4231-4233)Act>Gct	p.T1411A	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1411	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				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						ATGCTTGAGGACTGCAGTCTA	0.328			"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													94	91	92					22																	41565565		2203	4300	6503	SO:0001583	missense	0	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.4231A>G	22.37:g.41565565A>G	ENSP00000263253:p.Thr1411Ala		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.T1411A	ENST00000263253.7	37	c.4231	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259523	0.80246	.	.	ENSG00000100393	ENST00000263253	D	0.94138	-3.36	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000274	D	0.97794	0.9276	H	0.95884	3.735	0.53688	D	0.999972	D	0.69078	0.997	D	0.80764	0.994	D	0.99146	1.0857	10	0.87932	D	0	-9.8464	15.6988	0.77521	1.0:0.0:0.0:0.0	.	1411	Q09472	EP300_HUMAN	A	1411	ENSP00000263253:T1411A	ENSP00000263253:T1411A	T	+	1	0	EP300	39895511	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.237000	0.95368	2.115000	0.64714	0.455000	0.32223	ACT	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000100393		0.328	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0	18	0	A	NM_001429		41565565	1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	G	G	41565565	A	G	41565565	3	3	146	1	0	0	0	0	1	0	0	0	5164	275	10	4	4333	4	EP300	22	41565565	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	4158456	41565565	9739001	305	37347											
OFD1	8481	genome.wustl.edu	37	chrX	13767593	13767593	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcaacttttactaaaagaTatggatttgctaagaggaag	16	11	10	4	0	0	2	0	0	0	2	0	4	0	4	0	3	3	2	0	3	7	6	rs312262858		TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chrX:13767593T>G	ENST00000340096.6	+	9	1203	c.876T>G	c.(874-876)gaT>gaG	p.D292E	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.D292E|OFD1_ENST00000380567.1_Missense_Mutation_p.D152E|OFD1_ENST00000398395.3_Missense_Mutation_p.D292E	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	292					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						TACTAAAAGATATGGATTTGC	0.318																																																	0													62	60	60					X																	13767593		2203	4297	6500	SO:0001583	missense	0			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.876T>G	X.37:g.13767593T>G	ENSP00000344314:p.Asp292Glu		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.D292E	ENST00000340096.6	37	c.876	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	T	12.91	2.080782	0.36758	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D;D	0.96300	-3.81;-3.55;-3.97;-1.94	5.66	0.138	0.14793	.	0.088949	0.85682	D	0.000000	D	0.94699	0.8290	L	0.41124	1.26	0.31476	N	0.667749	D;D;P;D;P	0.65815	0.989;0.991;0.907;0.995;0.955	P;P;P;D;P	0.62955	0.708;0.898;0.684;0.909;0.753	D	0.90037	0.4139	10	0.02654	T	1	-36.2286	11.4073	0.49904	0.0:0.4418:0.0:0.5582	.	155;292;292;152;292	F5H2Z4;A8K2T9;O75665-3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	E	292;292;292;152;155	ENSP00000369923:D292E;ENSP00000381432:D292E;ENSP00000344314:D292E;ENSP00000369941:D152E	ENSP00000344314:D292E	D	+	3	2	OFD1	13677514	0.958000	0.32768	0.765000	0.31456	0.963000	0.63663	-0.071000	0.11505	0.004000	0.14682	0.486000	0.48141	GAT	OFD1	-	NULL	ENSG00000046651		0.318	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	-	0	46	0	T	NM_003611		13767593	1	tier1	-	no_errors	ENST00000340096	ensembl	human	known	74_37	missense	35.06	50	27	SNP	0.970	G	G	13767593	T	G	13767593	3	3	146	1	0	0	0	0	1	0	0	0	10877	1403	49	4	910	4	OFD1	23	13767593	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09		13767593	141502967	306	37348											
ASB9	140462	genome.wustl.edu	37	chrX	15287931	15287931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgggtttgaaagaagcctGatgccaggaaagtcccttgg	12	9	13	7	0	0	3	0	2	0	1	1	4	1	4	3	3	2	1	3	3	4	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chrX:15287931G>A	ENST00000380488.4	-	1	339	c.66C>T	c.(64-66)atC>atT	p.I22I	ASB9_ENST00000546332.1_Silent_p.I22I|ASB9_ENST00000380485.3_Silent_p.I22I|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Silent_p.I22I	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	22					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AAAGAAGCCTGATGCCAGGAA	0.587																																																	0													112	88	96					X																	15287931		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"Ankyrin repeat domain containing"	17184	protein-coding gene	gene with protein product		300890	"ankyrin repeat and SOCS box-containing 9"			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.66C>T	X.37:g.15287931G>A			A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.I22	ENST00000380488.4	37	c.66	CCDS35208.1	X																																																																																			ASB9	-	NULL	ENSG00000102048		0.587	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB9	HGNC	protein_coding	OTTHUMT00000055844.1	-	0	17	0	G			15287931	-1	tier1	-	no_errors	ENST00000380488	ensembl	human	known	74_37	silent	41.94	18	13	SNP	0.000	A	A	15287931	G	A	15287931	2	1	146	1	0	0	0	0	0	0	0	1	1031	1280	45	3		3	ASB9	23	15287931	Silent	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	1520338	15287931	139982629	307	37349											
DGKK	139189	genome.wustl.edu	37	chrX	50114766	50114766	+	RNA	DEL	T	T	-																															tccagtcaatctcagatagcTttttgaactccttattcatg																										TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chrX:50114766delT	ENST00000376025.2	-	0	3627							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTCAGATAGCTTTTTGAACTC	0.443																																																	0													142	127	132					X																	50114766		1966	4139	6105			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50114766delT			B2RP91	RNA	DEL	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.443	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1		0	33	0	T	NM_001013742		50114766	-1	tier1		no_errors	ENST00000376025	ensembl	human	known	74_37	rna	17.78	37	8	DEL	0.865	-	-	50114766	T	-	50114766	6	5	146	0	1	1	0	1	0	0	0	0	4486	1609	56	0		0	DGKK	23	50114766	RNA	DEL	T	TCGA-R6-A6Y0-01B-11D-A33E-09	34826835	50114766	105155794	308	37350											
MCART6	401612	genome.wustl.edu	37	chrX	103349671	103349671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacagaagagtcccttgCaacgtcttggagagaagagg	14	6	12	9	1	1	4	0	0	1	4	2	6	2	5	2	2	3	1	2	2	4	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chrX:103349671C>T	ENST00000357421.4	-	2	450	c.270G>A	c.(268-270)ttG>ttA	p.L90L		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	90					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GAGTCCCTTGCAACGTCTTGG	0.552																																																	0													64	62	63					X																	103349671		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"Solute carriers"	31894	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 6"	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.270G>A	X.37:g.103349671C>T			B2RTT9	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L90	ENST00000357421.4	37	c.270	CCDS35363.1	X																																																																																			SLC25A53	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000176274		0.552	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A53	HGNC	protein_coding	OTTHUMT00000057761.1	-	0	38	0	C	NM_001012755		103349671	-1	tier1	-	no_errors	ENST00000357421	ensembl	human	known	74_37	silent	23.26	33	10	SNP	0.991	T	T	103349671	C	T	103349671	2	4	146	1	0	0	0	0	0	0	0	1	9409	709	25	3		3	MCART6	23	103349671	Silent	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09	53234905	103349671	51920889	309	37351											
NRK	203447	genome.wustl.edu	37	chrX	105153087	105153087	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgccactacaggcacaggTtagggcacctaggcttctgc	9	8	11	13	0	1	0	0	0	1	0	1	0	1	0	2	4	3	4	2	4	3	4			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chrX:105153087T>G	ENST00000243300.9	+	13	1757	c.1454T>G	c.(1453-1455)gTt>gGt	p.V485G	NRK_ENST00000428173.2_Missense_Mutation_p.V486G	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	485	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAGGCACAGGTTAGGGCACCT	0.542										HNSCC(51;0.14)																																							0													49	50	49					X																	105153087		2036	4182	6218	SO:0001583	missense	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1454T>G	X.37:g.105153087T>G	ENSP00000434830:p.Val485Gly		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.V486G	ENST00000243300.9	37	c.1457		X	.	.	.	.	.	.	.	.	.	.	T	0.581	-0.836981	0.02692	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.27557	1.66;1.66	4.49	-0.211	0.13172	.	1.149250	0.06491	N	0.734545	T	0.16599	0.0399	N	0.21448	0.665	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27020	-1.0086	10	0.23302	T	0.38	.	1.2256	0.01932	0.1305:0.2204:0.1942:0.455	.	153;485	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	G	485;486	ENSP00000434830:V485G;ENSP00000438378:V486G	ENSP00000434830:V485G	V	+	2	0	NRK	105039743	0.992000	0.36948	0.015000	0.15790	0.168000	0.22595	0.227000	0.17795	-0.142000	0.11354	-0.223000	0.12442	GTT	NRK	-	NULL	ENSG00000123572		0.542	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	-	0	15	0	T	NM_198465		105153087	1	tier1	-	no_errors	ENST00000428173	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.001	G	G	105153087	T	G	105153087	3	3	146	1	0	0	0	0	1	0	0	0	10694	1725	60	4	1504	4	NRK	23	105153087	Missense_Mutation	SNP	T	TCGA-R6-A6Y0-01B-11D-A33E-09	1803416	105153087	50117473	310	37352											
ODZ1	10178	genome.wustl.edu	37	chrX	123838994	123838994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaaaaggtgcttcgaggaAgaggcctgggagggggcgag	10	4	22	5	2	0	1	0	0	0	1	1	6	0	4	1	7	1	1	1	7	3	1			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chrX:123838994A>G	ENST00000371130.3	-	5	947	c.884T>C	c.(883-885)cTt>cCt	p.L295P	TENM1_ENST00000422452.2_Missense_Mutation_p.L295P	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	295	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										GCTTCGAGGAAGAGGCCTGGG	0.527																																																	0													146	135	139					X																	123838994		2203	4300	6503	SO:0001583	missense	0			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.884T>C	X.37:g.123838994A>G	ENSP00000360171:p.Leu295Pro		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.L295P	ENST00000371130.3	37	c.884	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069830	0.76301	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.49432	0.78;0.78	5.39	5.39	0.77823	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000003	T	0.66317	0.2777	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.999;0.99;0.997	T	0.66952	-0.5793	10	0.44086	T	0.13	.	14.6346	0.68680	1.0:0.0:0.0:0.0	.	295;295;295	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	P	295	ENSP00000360171:L295P;ENSP00000403954:L295P	ENSP00000360171:L295P	L	-	2	0	ODZ1	123666675	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.244000	0.95423	1.905000	0.55150	0.425000	0.28330	CTT	TENM1	-	pfam_Ten_N	ENSG00000009694		0.527	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0	38	0	A	NM_014253		123838994	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	20.69	46	12	SNP	1.000	G	G	123838994	A	G	123838994	3	3	146	1	0	0	0	0	1	0	0	0	10873	72	3	4	7426	4	ODZ1	23	123838994	Missense_Mutation	SNP	A	TCGA-R6-A6Y0-01B-11D-A33E-09	18685907	123838994	31431566	311	37353											
SRPK3	26576	genome.wustl.edu	37	chrX	153047267	153047267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggagacagctgtggatgaGatcaagctcctgaaatgtgt	12	9	13	7	1	1	3	1	2	0	2	2	6	2	4	1	2	2	2	1	2	2	0			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chrX:153047267G>T	ENST00000370101.3	+	4	415	c.369G>T	c.(367-369)gaG>gaT	p.E123D	SRPK3_ENST00000489426.1_Missense_Mutation_p.E190D|SRPK3_ENST00000370108.3_Missense_Mutation_p.E123D|SRPK3_ENST00000370100.1_Missense_Mutation_p.E81D|SRPK3_ENST00000370104.1_Missense_Mutation_p.E123D|SRPK3_ENST00000393786.3_Missense_Mutation_p.E123D	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	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)					CTGTGGATGAGATCAAGCTCC	0.622																																					Esophageal Squamous(167;766 3400 32156)												0													122	93	103					X																	153047267		2202	4300	6502	SO:0001583	missense	0			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.369G>T	X.37:g.153047267G>T	ENSP00000359119:p.Glu123Asp		Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.E123D	ENST00000370101.3	37	c.369	CCDS35441.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.188318|4.188318	0.78789|0.78789	.|.	.|.	ENSG00000184343|ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100|ENST00000430541	T;T;T;T;T;T|.	0.59772|.	0.24;0.24;0.24;0.24;0.24;0.24|.	5.93|5.93	5.04|5.04	0.67666|0.67666	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.56097|.	D|.	0.000036|.	T|T	0.79816|0.79816	0.4511|0.4511	M|M	0.90595|0.90595	3.13|3.13	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.71674|.	0.998;0.992;0.989;0.957;0.998|.	D;D;D;D;D|.	0.87578|.	0.996;0.973;0.99;0.966;0.998|.	T|T	0.82847|0.82847	-0.0255|-0.0255	10|5	0.87932|.	D|.	0|.	-41.6856|-41.6856	12.3332|12.3332	0.55051|0.55051	0.0881:0.0:0.9119:0.0|0.0881:0.0:0.9119:0.0	.|.	81;123;123;123;190|.	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6|.	.;.;.;SRPK3_HUMAN;.|.	D|I	190;123;123;123;123;81|137	ENSP00000420058:E190D;ENSP00000377376:E123D;ENSP00000359122:E123D;ENSP00000359126:E123D;ENSP00000359119:E123D;ENSP00000359118:E81D|.	ENSP00000359118:E81D|.	E|R	+|+	3|2	2|0	SRPK3|SRPK3	152700461|152700461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.835000|1.835000	0.39181|0.39181	1.199000|1.199000	0.43173|0.43173	0.529000|0.529000	0.55759|0.55759	GAG|AGA	SRPK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000184343		0.622	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRPK3	HGNC	protein_coding	OTTHUMT00000354501.1	-	0	42	0	G	NM_014370		153047267	1	tier1	-	no_errors	ENST00000370101	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	153047267	G	T	153047267	3	4	146	1	0	0	0	0	1	0	0	0	15208	933	33	3	383	3	SRPK3	23	153047267	Missense_Mutation	SNP	G	TCGA-R6-A6Y0-01B-11D-A33E-09	29208273	153047267	2223293	312	37354											
PCDH11Y	83259	genome.wustl.edu	37	chrY	4968285	4968285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattctgaatgggctacccCaaacccagaaaacaggcaga	16	5	9	11	0	1	3	0	1	1	2	1	4	1	3	3	2	3	2	3	2	6	2			TCGA-R6-A6Y0-01B-11D-A33E-09	TCGA-R6-A6Y0-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	456e2823-cc87-4c9d-9b2a-0f64ca6dc37f	3915e0c1-2ad5-46d6-ba8c-adc6eebb9946	g.chrY:4968285C>A	ENST00000333703.4	+	5	3146	c.2633C>A	c.(2632-2634)cCa>cAa	p.P878Q	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P889Q|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P889Q	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	889					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						TGGGCTACCCCAAACCCAGAA	0.413																																																	0													39	36	36					Y																	4968285		616	1950	2566	SO:0001583	missense	0			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.2633C>A	Y.37:g.4968285C>A	ENSP00000330552:p.Pro878Gln		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P889Q	ENST00000333703.4	37	c.2666	CCDS14776.1	Y																																																																																			PCDH11Y	-	pfam_Protocadherin	ENSG00000099715		0.413	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH11Y	HGNC	protein_coding	OTTHUMT00000084979.2	-	0	19	0	C	NM_032973		4968285	1	tier1	-	no_errors	ENST00000215473	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	A	A	4968285	C	A	4968285	3	1	146	1	0	0	0	0	1	0	0	0	11548	594	21	3	2708	3	PCDH11Y	24	4968285	Missense_Mutation	SNP	C	TCGA-R6-A6Y0-01B-11D-A33E-09		4968285	54405281	313	37355											
TTLL10	254173	genome.wustl.edu	37	chr1	1119336	1119336	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggtggacgggagaaaGtttgacgtgcgctcctacct	7	10	14	10	3	0	2	0	1	0	1	1	4	1	3	2	3	3	3	2	3	2	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:1119336G>A	ENST00000379290.1	+	12	1298	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	TTLL10_ENST00000379288.3_Silent_p.K302K|TTLL10_ENST00000379289.1_Silent_p.K375K			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	375	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGGGAGAAAGTTTGACGTGC	0.627																																																	0													368	295	320					1																	1119336		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1125G>A	1.37:g.1119336G>A			B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Silent	SNP	pfam_TTL/TTLL_fam	p.K375	ENST00000379290.1	37	c.1125	CCDS44036.1	1																																																																																			TTLL10	-	pfam_TTL/TTLL_fam	ENSG00000162571		0.627	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10	HGNC	protein_coding	OTTHUMT00000002421.3	-	0	82	0	G	NM_153254		1119336	1	tier1	-	no_errors	ENST00000379289	ensembl	human	known	74_37	silent	32.61	31	15	SNP	1.000	A	A	1119336	G	A	1119336	2	1	147	1	0	0	0	0	0	0	0	1	16772	1020	36	3		3	TTLL10	1	1119336	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09		1119336	248131285	1	37356											
ENO1	2023	genome.wustl.edu	37	chr1	8921452	8921452	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtttctgaagttcctgccGgcaaacttagccttgctgcc	6	12	11	12	1	1	1	0	1	1	0	2	1	2	1	4	2	5	4	4	2	3	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:8921452G>T	ENST00000234590.4	-	12	1391	c.1272C>A	c.(1270-1272)gcC>gcA	p.A424A		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	424	Required for interaction with PLG. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTTCCTGCCGGCAAACTTAG	0.522																																					Esophageal Squamous(21;302 608 19946 22210 33560)												0													77	68	71					1																	8921452		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1272C>A	1.37:g.8921452G>T			B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.A424	ENST00000234590.4	37	c.1272	CCDS97.1	1																																																																																			ENO1	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase	ENSG00000074800		0.522	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	-	0	92	0	G	NM_001428		8921452	-1	tier1	-	no_errors	ENST00000234590	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.924	T	T	8921452	G	T	8921452	2	4	147	1	0	0	0	0	0	0	0	1	5137	1103	39	2		2	ENO1	1	8921452	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	7802116	8921452	240329169	2	37357											
PRAMEF11	440560	genome.wustl.edu	37	chr1	12887175	12887175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaagcttttggaggcagcGcagcttgaggaactgagtgg	11	9	15	6	1	0	2	0	2	0	0	0	4	0	4	0	4	4	4	0	4	3	4	rs199614619		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:12887175G>A	ENST00000535591.1	-	3	877	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	228					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						TGGAGGCAGCGCAGCTTGAGG	0.527													.|||	1	0.000199681	8e-04	0	5008	,	,		21176	0		0	False		,,,				2504	0																0																																										SO:0001583	missense	0			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.682C>T	1.37:g.12887175G>A	ENSP00000439551:p.Arg228Cys			Missense_Mutation	SNP	NULL	p.R228C	ENST00000535591.1	37	c.682	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	1.269	-0.613593	0.03690	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.53640	0.61;0.61	1.48	-2.96	0.05547	.	1.511700	0.03844	N	0.271170	T	0.28400	0.0702	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14337	-1.0476	10	0.40728	T	0.16	.	6.1412	0.20261	0.0:0.5341:0.2829:0.183	.	228	O60813	PRA11_HUMAN	C	228;269;228	ENSP00000439551:R228C;ENSP00000391839:R228C	ENSP00000328783:R269C	R	-	1	0	PRAMEF11	12809762	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.803000	0.04540	-2.154000	0.00792	-0.723000	0.03601	CGC	PRAMEF11	-	NULL	ENSG00000204513		0.527	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		-	0	284	0	G	XM_496341		12887175	-1	tier1	rs199614619	no_errors	ENST00000535591	ensembl	human	known	74_37	missense	31.25	143	65	SNP	0.000	A	A	12887175	G	A	12887175	3	1	147	1	0	0	0	0	1	0	0	0	12469	1087	38	1	636	1	PRAMEF11	1	12887175	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	3965723	12887175	236363446	3	37358											
SLC30A2	7780	genome.wustl.edu	37	chr1	26366308	26366308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaacaggctgggccaccgtCagtgcccagatatgcaggct	10	6	13	12	1	1	2	1	0	0	2	1	2	1	2	3	3	3	3	3	3	2	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:26366308C>T	ENST00000374278.3	-	6	1002	c.786G>A	c.(784-786)ctG>ctA	p.L262L	SLC30A2_ENST00000374276.3_Silent_p.L311L	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	262					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCACCGTCAGTGCCCAGA	0.612																																																	0													70	53	59					1																	26366308		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"Solute carriers"	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.786G>A	1.37:g.26366308C>T			Q71RC8	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.L311	ENST00000374278.3	37	c.933	CCDS272.1	1																																																																																			SLC30A2	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000158014		0.612	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	SLC30A2	HGNC	protein_coding	OTTHUMT00000019742.1	-	0	91	0	C	NM_032513		26366308	-1	tier1	-	no_errors	ENST00000374276	ensembl	human	known	74_37	silent	21.57	40	11	SNP	1.000	T	T	26366308	C	T	26366308	2	4	147	1	0	0	0	0	0	0	0	1	14600	813	29	3		3	SLC30A2	1	26366308	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	13479133	26366308	222884313	4	37359											
ARID1A	8289	genome.wustl.edu	37	chr1	27023560	27023560	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taccccaaccgcagcgcctaCcccccgcccgccccggccta	6	3	7	25	5	0	0	0	0	0	0	0	0	0	0	11	1	4	1	11	1	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:27023560C>G	ENST00000324856.7	+	1	1037	c.666C>G	c.(664-666)taC>taG	p.Y222*	RP5-968P14.2_ENST00000569378.1_RNA|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y222*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	222					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)		GCAGCGCCTACCCCCCGCCCG	0.741			"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													5	6	6					1																	27023560		1710	3585	5295	SO:0001587	stop_gained	0			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.666C>G	1.37:g.27023560C>G	ENSP00000320485:p.Tyr222*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Y222*	ENST00000324856.7	37	c.666	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575108	0.86542	.	.	ENSG00000117713	ENST00000324856;ENST00000457599	.	.	.	3.5	3.5	0.40072	.	0.238386	0.27004	U	0.021411	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-2.8061	7.1061	0.25364	0.0:0.8689:0.0:0.1311	.	.	.	.	X	222	.	ENSP00000320485:Y222X	Y	+	3	2	ARID1A	26896147	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.160000	0.58164	1.666000	0.50821	0.393000	0.25936	TAC	ARID1A	-	NULL	ENSG00000117713		0.741	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	-	0	43	0	C	NM_139135		27023560	1	tier1	-	no_errors	ENST00000324856	ensembl	human	known	74_37	nonsense	66.67	2	4	SNP	1.000	G	G	27023560	C	G	27023560	4	3	147	1	0	0	0	0	0	1	0	0	913	518	18	5	668	5	ARID1A	1	27023560	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	657252	27023560	222227061	5	37360											
KIAA0319L	79932	genome.wustl.edu	37	chr1	35915580	35915580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgaaagaaaaaggataggGtgatggtcagagtgatttaa	16	11	13	1	0	1	5	1	3	0	2	1	6	1	6	0	3	0	0	0	3	5	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:35915580G>T	ENST00000325722.3	-	15	2475	c.2241C>A	c.(2239-2241)caC>caA	p.H747Q	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.H184Q|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	747	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAGGATAGGGTGATGGTCAG	0.463																																																	0													142	128	133					1																	35915580		2203	4300	6503	SO:0001583	missense	0			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2241C>A	1.37:g.35915580G>T	ENSP00000318406:p.His747Gln		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.H747Q	ENST00000325722.3	37	c.2241	CCDS390.1	1	.	.	.	.	.	.	.	.	.	.	G	7.872	0.728428	0.15507	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.68181	2.63;-0.31;2.63	5.82	2.58	0.30949	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (2);	0.087875	0.85682	D	0.000000	T	0.21761	0.0524	N	0.00337	-1.62	0.80722	D	1	P;B;B	0.37731	0.607;0.006;0.131	B;B;B	0.30782	0.12;0.021;0.033	T	0.05022	-1.0911	10	0.15066	T	0.55	-3.3515	5.8745	0.18822	0.2464:0.0:0.6205:0.1331	.	747;747;189	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	Q	747;184;747	ENSP00000318406:H747Q;ENSP00000362363:H184Q;ENSP00000395883:H747Q	ENSP00000318406:H747Q	H	-	3	2	KIAA0319L	35688167	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.990000	0.40717	0.689000	0.31550	-0.136000	0.14681	CAC	KIAA0319L	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom	ENSG00000142687		0.463	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	-	0	80	0	G	NM_024874		35915580	-1	tier1	-	no_errors	ENST00000325722	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	35915580	G	T	35915580	3	4	147	1	0	0	0	0	1	0	0	0	8196	1252	44	3	936	3	KIAA0319L	1	35915580	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	8892020	35915580	213335041	6	37361											
CSF3R	1441	genome.wustl.edu	37	chr1	36937229	36937229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttggatccgtccgctgtCttcctccaggggcactggct	4	11	11	15	2	1	0	0	0	1	0	5	1	5	1	5	4	0	3	5	4	0	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:36937229C>T	ENST00000373106.1	-	10	1637	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N	CSF3R_ENST00000440588.2_Missense_Mutation_p.D364N|CSF3R_ENST00000338937.5_Missense_Mutation_p.D364N|CSF3R_ENST00000361632.4_Missense_Mutation_p.D364N|CSF3R_ENST00000373104.1_Missense_Mutation_p.D364N|CSF3R_ENST00000373103.1_Missense_Mutation_p.D364N|CSF3R_ENST00000331941.5_Missense_Mutation_p.D364N|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Missense_Mutation_p.D364N	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	364	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGTCCGCTGTCTTCCTCCAGG	0.587																																																	0													70	71	71					1																	36937229		2203	4300	6503	SO:0001583	missense	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1090G>A	1.37:g.36937229C>T	ENSP00000362198:p.Asp364Asn			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D364N	ENST00000373106.1	37	c.1090	CCDS413.1	1	.	.	.	.	.	.	.	.	.	.	C	8.065	0.769042	0.15983	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.2	-1.29	0.09288	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.556492	0.19993	N	0.101501	T	0.11750	0.0286	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.15141	0.007;0.004;0.003;0.012	B;B;B;B	0.13407	0.003;0.004;0.002;0.009	T	0.19095	-1.0316	10	0.33141	T	0.24	-3.2604	3.7385	0.08520	0.1777:0.3207:0.0:0.5017	.	364;364;364;364	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	N	364	ENSP00000362198:D364N;ENSP00000362196:D364N;ENSP00000362195:D364N;ENSP00000355406:D364N;ENSP00000332180:D364N;ENSP00000401588:D364N;ENSP00000345013:D364N;ENSP00000397568:D364N	ENSP00000332180:D364N	D	-	1	0	CSF3R	36709816	0.001000	0.12720	0.350000	0.25708	0.773000	0.43773	0.302000	0.19192	-0.091000	0.12440	-0.367000	0.07326	GAC	CSF3R	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000119535		0.587	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	-	0	76	0	C	NM_156039		36937229	-1	tier1	-	no_errors	ENST00000373103	ensembl	human	known	74_37	missense	32.43	25	12	SNP	0.001	T	T	36937229	C	T	36937229	3	4	147	1	0	0	0	0	1	0	0	0	3946	913	32	3	1642	3	CSF3R	1	36937229	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	1021649	36937229	212313392	7	37362											
MANEAL	149175	genome.wustl.edu	37	chr1	38265826	38265826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtacctggagctgacacGccgctgggcggagcacttca	7	7	13	14	3	1	1	1	1	0	0	1	3	1	3	3	3	3	4	3	3	1	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:38265826G>A	ENST00000373045.6	+	4	1706	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.R220H|MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000525897.1_Missense_Mutation_p.R248H	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	442						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAGCTGACACGCCGCTGGGCG	0.582																																																	0													52	58	56					1																	38265826		2180	4275	6455	SO:0001583	missense	0			AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1325G>A	1.37:g.38265826G>A	ENSP00000362136:p.Arg442His		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	NULL	p.R442H	ENST00000373045.6	37	c.1325	CCDS44110.1	1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843790	0.71488	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	5.62	0.85841	.	0.100137	0.64402	D	0.000004	T	0.68906	0.3052	M	0.84846	2.72	0.49130	D	0.999752	B;P	0.38642	0.139;0.641	B;B	0.36989	0.027;0.238	T	0.74581	-0.3618	9	0.59425	D	0.04	-16.9458	18.2155	0.89884	0.0:0.0:1.0:0.0	.	220;442	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	H	442;248;220	.	ENSP00000328770:R220H	R	+	2	0	MANEAL	38038413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.247000	0.72411	2.662000	0.90505	0.655000	0.94253	CGC	MANEAL	-	NULL	ENSG00000185090		0.582	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEAL	HGNC	protein_coding	OTTHUMT00000012469.2		0	67	0	G	NM_152496		38265826	1			no_errors	ENST00000373045	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A	A	38265826	G	A	38265826	3	1	147	1	0	0	0	0	1	0	0	0	9260	1087	38	1	1339	1	MANEAL	1	38265826	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1328597	38265826	210984795	8	37363											
DMAP1	55929	genome.wustl.edu	37	chr1	44684856	44684856	+	Silent	SNP	C	C	T	0	0	0	1	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	accactgcagagcagcggcgCacggaacgcaaggcccccaa	12	1	12	16	4	0	1	0	0	0	1	0	2	0	2	3	3	4	4	3	3	3	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:44684856C>T	ENST00000372289.2	+	6	1112	c.849C>T	c.(847-849)cgC>cgT	p.R283R	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Silent_p.R283R|DMAP1_ENST00000361745.6_Silent_p.R283R	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	283					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)					AGCAGCGGCGCACGGAACGCA	0.622																																																	0													49	54	52					1																	44684856		2203	4300	6503	SO:0001819	synonymous_variant	0			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.849C>T	1.37:g.44684856C>T			A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	pfam_DMAP1,superfamily_Homeodomain-like	p.R283	ENST00000372289.2	37	c.849	CCDS509.1	1																																																																																			DMAP1	-	pfam_DMAP1	ENSG00000178028		0.622	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DMAP1	HGNC	protein_coding	OTTHUMT00000020027.3	-	0	51	0	C	NM_019100		44684856	1	tier1	-	no_errors	ENST00000315913	ensembl	human	known	74_37	silent	30.43	16	7	SNP	0.999	T	T	44684856	C	T	44684856	2	4	147	1	0	0	0	0	0	0	0	1	4590	697	25	3		3	DMAP1	1	44684856	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	6419030	44684856	204565765	9	37364											
RNF220	55182	genome.wustl.edu	37	chr1	45116421	45116421	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaacacgatcacagcgcccGgagacctgcggaggatctac	11	4	12	14	4	2	1	1	0	1	1	2	5	2	3	2	3	4	1	2	3	2	1	rs201065980		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:45116421G>T	ENST00000355387.2	+	15	2125	c.1675G>T	c.(1675-1677)Gga>Tga	p.G559*	RNF220_ENST00000443020.2_Nonsense_Mutation_p.G346*|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000361799.2_Nonsense_Mutation_p.G559*|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000372247.2_Nonsense_Mutation_p.G559*|TMEM53_ENST00000476724.1_5'Flank|RNF220_ENST00000480686.1_3'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	559					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CACAGCGCCCGGAGACCTGCG	0.632																																																	0													125	122	123					1																	45116421		2203	4300	6503	SO:0001587	stop_gained	0			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1675G>T	1.37:g.45116421G>T	ENSP00000347548:p.Gly559*		B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Nonsense_Mutation	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.G559*	ENST00000355387.2	37	c.1675	CCDS510.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.278148	0.98740	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247;ENST00000443020;ENST00000372248	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.0668	0.93114	0.0:0.0:1.0:0.0	.	.	.	.	X	559;559;559;559;346;302	.	ENSP00000347548:G559X	G	+	1	0	RNF220	44889008	1.000000	0.71417	0.966000	0.40874	0.942000	0.58702	8.896000	0.92521	2.757000	0.94681	0.462000	0.41574	GGA	RNF220	-	NULL	ENSG00000187147		0.632	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	-	0	30	0	G	NM_018150		45116421	1	tier1	-	no_errors	ENST00000355387	ensembl	human	known	74_37	nonsense	16.67	15	3	SNP	1.000	T	T	45116421	G	T	45116421	4	4	147	1	0	0	0	0	0	1	0	0	13528	1117	39	2	1729	2	RNF220	1	45116421	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	431565	45116421	204134200	10	37365											
HECTD3	79654	genome.wustl.edu	37	chr1	45473171	45473171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcggttgatgtataggcGtggcatgaagctgggcttgc	7	10	17	7	3	0	2	0	2	0	0	0	2	0	2	0	5	2	5	0	5	3	4	rs201302909		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:45473171G>A	ENST00000372172.4	-	10	1488	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Missense_Mutation_p.R83C	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	473					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R83C(1)|p.R473C(1)|p.R189C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					ATGTATAGGCGTGGCATGAAG	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		19156	0		0	False		,,,				2504	0																3	Substitution - Missense(3)	endometrium(3)											86	90	89					1																	45473171		2135	4236	6371	SO:0001583	missense	0			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1417C>T	1.37:g.45473171G>A	ENSP00000361245:p.Arg473Cys		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.R473C	ENST00000372172.4	37	c.1417	CCDS41318.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.60	2.880755	0.51801	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.61392	0.11;0.32	5.86	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	L	0.27053	0.805	0.80722	D	1	B;B	0.21381	0.027;0.055	B;B	0.12156	0.007;0.007	T	0.20806	-1.0264	10	0.44086	T	0.13	.	8.7558	0.34645	0.0671:0.0:0.5365:0.3964	.	473;83	Q5T447;Q5T447-2	HECD3_HUMAN;.	C	473;83	ENSP00000361245:R473C;ENSP00000361241:R83C	ENSP00000361241:R83C	R	-	1	0	HECTD3	45245758	0.999000	0.42202	0.987000	0.45799	0.997000	0.91878	2.898000	0.48672	0.744000	0.32741	0.655000	0.94253	CGC	HECTD3	-	NULL	ENSG00000126107		0.607	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1		0	55	0	G	NM_024602		45473171	-1			no_errors	ENST00000372172	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.992	A	A	45473171	G	A	45473171	3	1	147	1	0	0	0	0	1	0	0	0	7068	1145	40	1	1216	1	HECTD3	1	45473171	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	356750	45473171	203777450	11	37366											
CYP4X1	260293	genome.wustl.edu	37	chr1	47515828	47515828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgtatttgcacctgaaGaaactctctgaatgttagat	12	13	10	6	0	1	4	0	2	1	2	2	5	1	5	1	1	2	3	1	1	5	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:47515828G>T	ENST00000371901.3	+	12	1762	c.1512G>T	c.(1510-1512)aaG>aaT	p.K504N	CYP4X1_ENST00000538609.1_Missense_Mutation_p.K503N	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	504						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						TGCACCTGAAGAAACTCTCTG	0.418																																																	0													116	108	111					1																	47515828		2203	4300	6503	SO:0001583	missense	0			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.1512G>T	1.37:g.47515828G>T	ENSP00000360968:p.Lys504Asn		G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.K504N	ENST00000371901.3	37	c.1512	CCDS544.1	1	.	.	.	.	.	.	.	.	.	.	g	10.03	1.240112	0.22711	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.80304	-1.36;-0.47	5.36	4.38	0.52667	.	0.301230	0.40818	N	0.001011	T	0.73753	0.3627	N	0.08118	0	0.34764	D	0.733055	B;D	0.57899	0.248;0.981	B;P	0.57548	0.091;0.823	T	0.81017	-0.1123	10	0.59425	D	0.04	.	9.5516	0.39313	0.1856:0.0:0.8144:0.0	.	504;503	Q8N118;G3V1U1	CP4X1_HUMAN;.	N	503;504	ENSP00000445965:K503N;ENSP00000360968:K504N	ENSP00000360968:K504N	K	+	3	2	CYP4X1	47288415	1.000000	0.71417	0.731000	0.30826	0.142000	0.21351	1.875000	0.39578	1.276000	0.44395	0.461000	0.40582	AAG	CYP4X1	-	superfamily_Cyt_P450	ENSG00000186377		0.418	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4X1	HGNC	protein_coding	OTTHUMT00000022017.1	-	0	68	0	G	NM_178033		47515828	1	tier1	-	no_errors	ENST00000371901	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.750	T	T	47515828	G	T	47515828	3	4	147	1	0	0	0	0	1	0	0	0	4202	933	33	3	1558	3	CYP4X1	1	47515828	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2042657	47515828	201734793	12	37367											
NRD1	4898	genome.wustl.edu	37	chr1	52306075	52306075	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatcatcatcttcttcttcTtcctccacctcctcttcttc	4	19	0	18	0	9	0	3	0	6	0	13	0	12	0	4	0	0	0	4	0	0	6	rs78724482	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	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_ENST00000539524.1_Silent_p.E19E|NRD1_ENST00000352171.7_Silent_p.E151E|NRD1_ENST00000485608.1_5'UTR	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	0			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	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.E151	ENST00000354831.7	37	c.453	CCDS559.1	1																																																																																			NRD1	-	superfamily_Metalloenz_LuxS/M16	ENSG00000078618		0.388	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	-	0	15	0	T	NM_002525		52306075	-1	tier1	rs78724482	no_errors	ENST00000354831	ensembl	human	known	74_37	silent	23.53	13	4	SNP	0.094	C	C	52306075	T	C	52306075	2	2	147	1	0	0	0	0	0	0	0	1	10684	1606	56	4		4	NRD1	1	52306075	Silent	SNP	T	TCGA-R6-A6Y2-01B-11D-A33E-09	4790247	52306075	196944546	13	37368											
UBE2U	148581	genome.wustl.edu	37	chr1	64680571	64680571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatactggttaaagatgaatCtctgtacagaacaattctaa	17	12	6	6	0	2	3	0	1	2	2	3	3	2	3	0	1	3	2	0	1	9	5	rs542139617		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:64680571C>T	ENST00000371076.3	+	5	657	c.413C>T	c.(412-414)tCt>tTt	p.S138F		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	138					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						AAAGATGAATCTCTGTACAGA	0.383																																																	0													103	107	105					1																	64680571		2203	4300	6503	SO:0001583	missense	0			BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"Ubiquitin-conjugating enzymes E2"	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.413C>T	1.37:g.64680571C>T	ENSP00000360116:p.Ser138Phe		Q8N1D4	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.S138F	ENST00000371076.3	37	c.413	CCDS627.1	1	.	.	.	.	.	.	.	.	.	.	C	8.702	0.909867	0.17833	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.38887	1.11;1.11	4.49	0.118	0.14667	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	1.335470	0.05211	N	0.506688	T	0.16896	0.0406	L	0.56769	1.78	0.09310	N	1	P	0.48407	0.91	B	0.38156	0.266	T	0.18493	-1.0335	10	0.66056	D	0.02	.	3.0079	0.06034	0.3102:0.4446:0.1516:0.0936	.	138	Q5VVX9	UBE2U_HUMAN	F	138	ENSP00000360117:S138F;ENSP00000360116:S138F	ENSP00000360116:S138F	S	+	2	0	UBE2U	64453159	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.091000	0.11146	0.075000	0.16796	-0.266000	0.10368	TCT	UBE2U	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000177414		0.383	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2U	HGNC	protein_coding	OTTHUMT00000025005.1	-	0	45	0	C	NM_152489		64680571	1	tier1	-	no_errors	ENST00000371076	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T	T	64680571	C	T	64680571	3	4	147	1	0	0	0	0	1	0	0	0	16923	913	32	3	431	3	UBE2U	1	64680571	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	12374496	64680571	184570050	14	37369											
PDE4B	5142	genome.wustl.edu	37	chr1	66838008	66838008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaggttggtttcatcGactacattgtccatccattg	7	16	7	11	1	2	0	1	0	1	0	6	1	4	0	3	2	1	2	3	2	1	6			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:66838008G>T	ENST00000329654.4	+	17	2045	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y	PDE4B_ENST00000371045.5_Missense_Mutation_p.D448Y|PDE4B_ENST00000480109.2_Missense_Mutation_p.D387Y|PDE4B_ENST00000371049.3_Missense_Mutation_p.D620Y|PDE4B_ENST00000423207.2_Missense_Mutation_p.D605Y	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	620					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TGGTTTCATCGACTACATTGT	0.413																																																	0													139	141	140					1																	66838008		2203	4300	6503	SO:0001583	missense	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1858G>T	1.37:g.66838008G>T	ENSP00000332116:p.Asp620Tyr		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.D620Y	ENST00000329654.4	37	c.1858	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673151	0.67928	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	4.96	4.96	0.65561	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.87265	0.6134	M	0.93328	3.405	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	0.83275	0.995;0.991;0.996;0.995;0.995	D	0.89956	0.4083	10	0.87932	D	0	.	18.3428	0.90311	0.0:0.0:1.0:0.0	.	387;605;490;610;620	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	Y	620;620;620;605;448;387	ENSP00000332116:D620Y;ENSP00000342637:D620Y;ENSP00000360088:D620Y;ENSP00000392947:D605Y;ENSP00000360084:D448Y;ENSP00000432592:D387Y	ENSP00000332116:D620Y	D	+	1	0	PDE4B	66610596	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	9.539000	0.98076	2.734000	0.93682	0.591000	0.81541	GAC	PDE4B	-	pfam_PDEase_catalytic_dom	ENSG00000184588		0.413	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3		0	54	0	G	NM_002600		66838008	1			no_errors	ENST00000329654	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	66838008	G	T	66838008	3	4	147	1	0	0	0	0	1	0	0	0	11679	1058	37	2	2278	2	PDE4B	1	66838008	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2157437	66838008	182412613	15	37370											
NEXN	91624	genome.wustl.edu	37	chr1	78395077	78395077	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtaaactcaaactcagttTtgaagaaatggaaaggcaaa	18	9	9	5	0	2	2	2	1	0	1	2	3	2	3	0	3	2	3	0	3	7	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:78395077T>C	ENST00000334785.7	+	9	1125	c.941T>C	c.(940-942)tTt>tCt	p.F314S	NEXN_ENST00000457030.1_Missense_Mutation_p.F300S|NEXN_ENST00000330010.8_Missense_Mutation_p.F250S	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAACTCAGTTTTgaagaaatg	0.373																																																	0													68	66	67					1																	78395077		1816	4077	5893	SO:0001583	missense	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.941T>C	1.37:g.78395077T>C	ENSP00000333938:p.Phe314Ser			Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.F314S	ENST00000334785.7	37	c.941	CCDS41351.1	1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090592	0.76756	.	.	ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	T;T;T;T;T	0.78595	-0.68;-0.16;-1.01;-0.91;-1.19	4.98	4.98	0.66077	.	0.000000	0.49305	D	0.000158	T	0.81823	0.4904	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	T	0.82711	-0.0322	10	0.07813	T	0.8	-13.1928	13.5289	0.61611	0.0:0.0:0.0:1.0	.	250;300;314;250	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.;.;NEXN_HUMAN;.	S	250;300;250;314;300	ENSP00000383814:F250S;ENSP00000388048:F300S;ENSP00000327363:F250S;ENSP00000333938:F314S;ENSP00000411902:F300S	ENSP00000327363:F250S	F	+	2	0	NEXN	78167665	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.475000	0.66787	2.002000	0.58637	0.482000	0.46254	TTT	NEXN	-	NULL	ENSG00000162614		0.373	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	-	0	29	0	T	NM_144573		78395077	1	tier1	-	no_errors	ENST00000334785	ensembl	human	known	74_37	missense	24.56	43	14	SNP	1.000	C	C	78395077	T	C	78395077	3	2	147	1	0	0	0	0	1	0	0	0	10394	1841	64	4	971	4	NEXN	1	78395077	Missense_Mutation	SNP	T	TCGA-R6-A6Y2-01B-11D-A33E-09	11557069	78395077	170855544	16	37371											
DNASE2B	58511	genome.wustl.edu	37	chr1	84867689	84867689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagctggaggaagagtgaGcaactaatgaatgacaccaa	18	5	12	6	0	0	5	0	3	0	2	0	7	0	7	1	2	3	2	1	2	6	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:84867689G>T	ENST00000370665.3	+	2	264	c.231G>T	c.(229-231)gaG>gaT	p.E77D		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	77					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)		GGAAGAGTGAGCAACTAATGA	0.378																																					Pancreas(54;788 1175 11852 16034 30034)												0													81	79	80					1																	84867689		1899	4123	6022	SO:0001583	missense	0			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.231G>T	1.37:g.84867689G>T	ENSP00000359699:p.Glu77Asp		Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	pfam_DNase_II	p.E77D	ENST00000370665.3	37	c.231	CCDS44167.1	1	.	.	.	.	.	.	.	.	.	.	G	8.842	0.942452	0.18281	.	.	ENSG00000137976	ENST00000370665	T	0.14266	2.52	5.65	1.65	0.23941	.	0.480129	0.23508	N	0.047426	T	0.01730	0.0055	N	0.17082	0.46	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.47674	-0.9099	10	0.14656	T	0.56	-13.2532	5.1888	0.15199	0.3703:0.1476:0.4821:0.0	.	77	Q8WZ79	DNS2B_HUMAN	D	77	ENSP00000359699:E77D	ENSP00000359699:E77D	E	+	3	2	DNASE2B	84640277	0.125000	0.22332	0.058000	0.19502	0.747000	0.42532	1.428000	0.34892	0.321000	0.23259	0.467000	0.42956	GAG	DNASE2B	-	pfam_DNase_II	ENSG00000137976		0.378	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNASE2B	HGNC	protein_coding	OTTHUMT00000027248.1	-	0	62	0	G	NM_021233		84867689	1	tier1	-	no_errors	ENST00000370665	ensembl	human	known	74_37	missense	19.74	61	15	SNP	0.000	T	T	84867689	G	T	84867689	3	4	147	1	0	0	0	0	1	0	0	0	4679	962	34	3	237	3	DNASE2B	1	84867689	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	6472612	84867689	164382932	17	37372											
SH3GLB1	51100	genome.wustl.edu	37	chr1	87181545	87181545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtgttattgcagccaaatCcaagtaagaaactctacctc	15	10	6	10	0	1	1	0	0	1	1	3	1	2	1	3	0	4	3	3	0	7	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:87181545C>A	ENST00000370558.4	+	2	535	c.211C>A	c.(211-213)Cca>Aca	p.P71T	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.P71T|SH3GLB1_ENST00000535010.1_Intron	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	71	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)		GCAGCCAAATCCAAGTAAGAA	0.323																																																	0													63	58	60					1																	87181545		2203	4300	6503	SO:0001583	missense	0			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.211C>A	1.37:g.87181545C>A	ENSP00000473267:p.Pro71Thr		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.P71T	ENST00000370558.4	37	c.211	CCDS710.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663755	0.88251	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.67523	-0.27	5.21	5.21	0.72293	BAR (3);	0.000000	0.85682	D	0.000000	T	0.82250	0.4996	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.76575	0.988;0.964	D	0.84996	0.0897	10	0.62326	D	0.03	.	18.753	0.91823	0.0:1.0:0.0:0.0	.	71;71	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	T	71	ENSP00000418744:P71T	ENSP00000212369:P71T	P	+	1	0	SH3GLB1	86954133	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.814000	0.86154	2.425000	0.82216	0.591000	0.81541	CCA	SH3GLB1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000097033		0.323	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB1	HGNC	protein_coding	OTTHUMT00000028287.2		0	17	0	C	NM_016009		87181545	1			no_errors	ENST00000482504	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	87181545	C	A	87181545	3	1	147	1	0	0	0	0	1	0	0	0	14298	855	30	3	217	3	SH3GLB1	1	87181545	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	2313856	87181545	162069076	18	37373											
LPPR4	9890	genome.wustl.edu	37	chr1	99764674	99764674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatcaagcaccttactttCtgactgtgtgcaaaccaaac	13	11	6	11	0	2	1	1	1	1	0	2	2	2	1	2	0	5	2	2	0	5	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:99764674C>A	ENST00000370185.3	+	4	1119	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	LPPR4_ENST00000457765.1_Missense_Mutation_p.L208M|LPPR4_ENST00000370184.1_Missense_Mutation_p.L50M	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		208					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)		ACCTTACTTTCTGACTGTGTG	0.378																																																	0													159	149	153					1																	99764674		2203	4300	6503	SO:0001583	missense	0																														ENST00000370185.3:c.622C>A	1.37:g.99764674C>A	ENSP00000359204:p.Leu208Met		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L208M	ENST00000370185.3	37	c.622	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005533	0.74932	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.53423	0.62;0.62;0.62	5.41	4.5	0.54988	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.57799	0.2078	M	0.75447	2.3	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64736	-0.6337	10	0.87932	D	0	-14.8338	10.7178	0.46023	0.0:0.854:0.0:0.146	.	208;208	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	M	208;208;208;50	ENSP00000359204:L208M;ENSP00000394913:L208M;ENSP00000359203:L50M	ENSP00000263178:L208M	L	+	1	2	RP4-788L13.1	99537262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.693000	0.47027	1.429000	0.47314	0.650000	0.86243	CTG	LPPR4	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000117600		0.378	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Uniprot_gn	protein_coding	OTTHUMT00000029670.2	-	0	35	0	C			99764674	1	tier1	-	no_errors	ENST00000370185	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	99764674	C	A	99764674	3	1	147	1	0	0	0	0	1	0	0	0	8962	912	32	3	636	3	LPPR4	1	99764674	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	12583129	99764674	149485947	19	37374											
SPAG17	200162	genome.wustl.edu	37	chr1	118642303	118642303	+	Frame_Shift_Del	DEL	G	G	-																															gcagaggttcataattctctGaagatattttaatcacgctg																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:118642303delG	ENST00000336338.5	-	6	820	c.755delC	c.(754-756)tcafs	p.S252fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	252						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)		ATAATTCTCTGAAGATATTTT	0.423																																																	0													112	115	114					1																	118642303		2203	4300	6503	SO:0001589	frameshift_variant	0				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.755delC	1.37:g.118642303delG	ENSP00000337804:p.Ser252fs		Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	NULL	p.S252fs	ENST00000336338.5	37	c.755	CCDS899.1	1																																																																																			SPAG17	-	NULL	ENSG00000155761		0.423	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1		0	56	0	G	NM_206996		118642303	-1	tier1		no_errors	ENST00000336338	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-	-	118642303	G	-	118642303	7	5	147	1	0	1	0	1	0	0	0	0	15026	1294	45	0	6088	0	SPAG17	1	118642303	Frame_Shift_Del	DEL	G	TCGA-R6-A6Y2-01B-11D-A33E-09	18877629	118642303	130608318	20	37375											
NBPF9	0	genome.wustl.edu	37	chr1	144615258	144615258	+	IGR	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacctcaaagagatgttttCtaactcaactggccggcttc	12	11	7	11	1	3	1	2	0	1	1	4	2	3	1	2	2	3	2	2	2	4	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:144615258C>G								RP11-640M9.2 (9367 upstream) : NBPF9 (196485 downstream)																							GAGATGTTTTCTAACTCAACT	0.453																																																	0																																										SO:0001628	intergenic_variant	0																															1.37:g.144615258C>G				RNA	SNP	-	NULL		37	NULL		1																																																																																			RP11-640M9.2	-	-	ENSG00000225241	0	0.453					ENSG00000225241	Clone_based_vega_gene			-	0	206	0	C			144615258	1	tier1	-	no_errors	ENST00000421407	ensembl	human	known	74_37	rna	37.30	79	47	SNP	0.001	G	G	144615258	C	G	144615258	1	3	147	0	1	0	0	0	0	0	0	0	10238	913	32	5		5	NBPF9	1	144615258	IGR	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	25972955	144615258	104635363	21	37376											
NBPF9	0	genome.wustl.edu	37	chr1	144615289	144615290	+	IGR	DNP	GA	GA	AG																															ggccggcttcctggccaaccGacagaagaaatacagtaaga																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:144615289_144615290GA>AG								RP11-640M9.2 (9398 upstream) : NBPF9 (196453 downstream)																							CTGGCCAACCGACAGAAGAAAT	0.446																																																	0																																										SO:0001628	intergenic_variant	0																															1.37:g.144615289_144615290delinsAG				RNA	SNP	-	NULL		37	NULL		1																																																																																			RP11-640M9.2	-	-	ENSG00000225241	0	0.446					ENSG00000225241	Clone_based_vega_gene			-	0	162|161	0	G|A			144615289|144615290	1	tier1	rs9441106|rs9441135	no_errors	ENST00000421407	ensembl	human	known	74_37	rna	29.07|28.74	61|62	25	SNP	0.038|0.016	A|G	AG	144615290	GA	AG	144615289	1	1	147	0	1	0	0	0	0	0	0	0	10238	1045	37	1		1	NBPF9	1	144615289	IGR	DNP	GA	TCGA-R6-A6Y2-01B-11D-A33E-09	31	144615289	104635332	22	37377											
ZNF687	57592	genome.wustl.edu	37	chr1	151261077	151261077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcgcatgcataagaatcGacccccccatgtctgtcctg	9	8	8	16	2	1	1	0	0	1	1	3	2	2	1	5	0	2	2	5	0	2	1	rs375351311		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:151261077G>A	ENST00000368879.2	+	3	2287	c.2189G>A	c.(2188-2190)cGa>cAa	p.R730Q		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	730					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)			CATAAGAATCGACCCCCCCAT	0.582																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	116	97	103		2189	4.3	0.9	1		103	0,8600		0,0,4300	no	missense	ZNF687	NM_020832.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	730/1238	151261077	1,13005	2203	4300	6503	SO:0001583	missense	0				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.2189G>A	1.37:g.151261077G>A	ENSP00000357874:p.Arg730Gln		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R730Q	ENST00000368879.2	37	c.2189		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.365485|4.365485	0.82463|0.82463	2.27E-4|2.27E-4	0.0|0.0	ENSG00000143373|ENSG00000143373	ENST00000426871|ENST00000336715;ENST00000324048;ENST00000368879	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	5.25|5.25	4.34|4.34	0.51931|0.51931	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.30365	.|N	.|0.009783	T|T	0.22898|0.22898	0.0553|0.0553	N|N	0.22421|0.22421	0.69|0.69	0.40603|0.40603	D|D	0.981602|0.981602	.|D;D	.|0.76494	.|0.999;0.996	.|P;P	.|0.62014	.|0.897;0.727	T|T	0.07751|0.07751	-1.0756|-1.0756	5|10	.|0.62326	.|D	.|0.03	.|.	8.7431|8.7431	0.34569|0.34569	0.0811:0.1513:0.7676:0.0|0.0811:0.1513:0.7676:0.0	.|.	.|730;730	.|Q8N1G0-2;Q8N1G0	.|.;ZN687_HUMAN	N|Q	333|730	.|ENSP00000336620:R730Q;ENSP00000319829:R730Q;ENSP00000357874:R730Q	.|ENSP00000319829:R730Q	D|R	+|+	1|2	0|0	ZNF687|ZNF687	149527701|149527701	0.003000|0.003000	0.15002|0.15002	0.934000|0.934000	0.37439|0.37439	0.991000|0.991000	0.79684|0.79684	1.406000|1.406000	0.34646|0.34646	1.467000|1.467000	0.48044|0.48044	0.561000|0.561000	0.74099|0.74099	GAC|CGA	ZNF687	-	pfscan_Znf_C2H2	ENSG00000143373		0.582	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding		-	0	103	0	G	NM_020832		151261077	1	tier1	-	no_errors	ENST00000324048	ensembl	human	known	74_37	missense	33.33	36	18	SNP	0.842	A	A	151261077	G	A	151261077	3	1	147	1	0	0	0	0	1	0	0	0	18140	1058	37	1	2195	1	ZNF687	1	151261077	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	6645788	151261077	97989544	23	37378											
FLG	2312	genome.wustl.edu	37	chr1	152276780	152276780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcctgcttgtcctgggccCcgctgattgtccctggccgg	1	12	13	15	2	0	1	0	1	0	0	3	1	3	1	6	3	1	3	6	3	0	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:152276780C>T	ENST00000368799.1	-	3	10617	c.10582G>A	c.(10582-10584)Ggg>Agg	p.G3528R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3528	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)			GTCCTGGGCCCCGCTGATTGT	0.582									Ichthyosis																																								0													198	203	202					1																	152276780		2203	4297	6500	SO:0001583	missense	0	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.10582G>A	1.37:g.152276780C>T	ENSP00000357789:p.Gly3528Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G3528R	ENST00000368799.1	37	c.10582	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410611	0.25465	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.46	-2.37	0.06643	.	.	.	.	.	T	0.02230	0.0069	M	0.78916	2.43	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.28170	-1.0052	9	0.32370	T	0.25	.	2.7891	0.05383	0.2795:0.3676:0.0:0.353	.	3528	P20930	FILA_HUMAN	R	3528	ENSP00000357789:G3528R	ENSP00000357789:G3528R	G	-	1	0	FLG	150543404	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.031000	0.12287	-0.902000	0.03886	-0.507000	0.04495	GGG	FLG	-	pfam_Filaggrin	ENSG00000143631		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	196	0	C	NM_002016		152276780	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	15.79	112	21	SNP	0.000	T	T	152276780	C	T	152276780	3	4	147	1	0	0	0	0	1	0	0	0	5944	623	22	3	1607	3	FLG	1	152276780	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	1015703	152276780	96973841	24	37379											
IVL	3713	genome.wustl.edu	37	chr1	152883028	152883028	+	Missense_Mutation	SNP	A	A	T	1	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	ctctgagcagcaggaggggcAgctggagctctctgagcagc	8	6	16	11	0	2	2	0	2	2	0	3	4	2	4	0	4	6	6	0	4	0	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:152883028A>T	ENST00000368764.3	+	2	819	c.755A>T	c.(754-756)cAg>cTg	p.Q252L	IVL_ENST00000392667.2_Missense_Mutation_p.Q106L			P07476	INVO_HUMAN	involucrin	252	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			caggaggggcagctggagctc	0.667																																																	0													8	9	9					1																	152883028		1957	3876	5833	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.755A>T	1.37:g.152883028A>T	ENSP00000357753:p.Gln252Leu		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q252L	ENST00000368764.3	37	c.755	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	A	9.985	1.229096	0.22542	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11930	3.02;2.73	3.02	1.81	0.25067	.	.	.	.	.	T	0.05914	0.0154	M	0.64997	1.995	0.09310	N	1	P	0.43231	0.801	B	0.44108	0.441	T	0.32295	-0.9912	9	0.18276	T	0.48	.	6.9318	0.24445	0.7952:0.0:0.0:0.2048	.	252	P07476	INVO_HUMAN	L	252;106	ENSP00000357753:Q252L;ENSP00000376435:Q106L	ENSP00000357753:Q252L	Q	+	2	0	IVL	151149652	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.197000	0.09518	0.354000	0.24105	0.104000	0.15600	CAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.667	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0	97	0	A	NM_005547		152883028	1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.000	T	T	152883028	A	T	152883028	3	4	147	1	0	0	0	0	1	0	0	0	7956	188	7	5	757	5	IVL	1	152883028	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	606248	152883028	96367593	25	37380											
DCST1	149095	genome.wustl.edu	37	chr1	155020636	155020636	+	Missense_Mutation	SNP	A	A	T	1	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	cctgaggcgggagcgacagcAgaaggctccggtaagtccag	10	4	16	11	3	0	2	0	1	0	1	2	4	2	3	3	4	2	3	3	4	2	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:155020636A>T	ENST00000295542.1	+	16	1955	c.1859A>T	c.(1858-1860)cAg>cTg	p.Q620L	RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000392480.1_Missense_Mutation_p.Q620L|DCST1_ENST00000368419.2_Missense_Mutation_p.Q620L|DCST1_ENST00000423025.2_Missense_Mutation_p.Q595L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	620						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAGCGACAGCAGAAGGCTCCG	0.582																																																	0													51	49	50					1																	155020636		2203	4300	6503	SO:0001583	missense	0			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1859A>T	1.37:g.155020636A>T	ENSP00000295542:p.Gln620Leu		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.Q620L	ENST00000295542.1	37	c.1859	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	a	13.18	2.159544	0.38119	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.25250	1.81;1.82;1.82;1.82	4.8	4.8	0.61643	.	0.965028	0.08571	N	0.926072	T	0.07324	0.0185	N	0.22421	0.69	0.33284	D	0.562604	P;P	0.46142	0.873;0.873	B;B	0.35931	0.214;0.214	T	0.06770	-1.0808	9	.	.	.	-30.3447	10.6307	0.45534	1.0:0.0:0.0:0.0	.	595;620	E9PHV3;Q5T197	.;DCST1_HUMAN	L	620;620;595;620	ENSP00000295542:Q620L;ENSP00000376271:Q620L;ENSP00000387369:Q595L;ENSP00000357404:Q620L	.	Q	+	2	0	DCST1	153287260	0.991000	0.36638	0.960000	0.40013	0.172000	0.22775	2.181000	0.42547	2.007000	0.58848	0.478000	0.44815	CAG	DCST1	-	NULL	ENSG00000163357		0.582	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1		0	25	0	A	NM_152494		155020636	1			no_errors	ENST00000295542	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.942	T	T	155020636	A	T	155020636	3	4	147	1	0	0	0	0	1	0	0	0	4311	188	7	5	1917	5	DCST1	1	155020636	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	2137608	155020636	94229985	26	37381											
FAM189B	10712	genome.wustl.edu	37	chr1	155220921	155220921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccactcgttcacagatgcacGagccatcgtgaagctgaggg	10	7	12	12	3	1	3	1	2	0	1	3	4	1	3	2	1	3	3	2	1	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:155220921G>C	ENST00000361361.2	-	8	1438	c.929C>G	c.(928-930)tCg>tGg	p.S310W	FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000368368.3_Missense_Mutation_p.S292W|FAM189B_ENST00000350210.2_Missense_Mutation_p.S214W	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	310						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						ACAGATGCACGAGCCATCGTG	0.592											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													47	44	45					1																	155220921		2203	4300	6503	SO:0001583	missense	0			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.929C>G	1.37:g.155220921G>C	ENSP00000354958:p.Ser310Trp	1769	B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	pfam_CD20-like	p.S310W	ENST00000361361.2	37	c.929	CCDS1103.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113850	0.77210	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361;ENST00000491082	T;T;T;T	0.35236	1.64;2.01;2.01;1.32	4.58	4.58	0.56647	.	0.158541	0.42172	D	0.000746	T	0.37433	0.1003	L	0.42245	1.32	0.49051	D	0.999746	D;D;D;P	0.67145	0.996;0.979;0.984;0.947	P;P;P;P	0.59825	0.864;0.563;0.685;0.466	T	0.22243	-1.0222	10	0.87932	D	0	.	13.0645	0.59025	0.0:0.0:1.0:0.0	.	39;292;214;310	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	W	214;292;310;20;214	ENSP00000307128:S214W;ENSP00000357352:S292W;ENSP00000354958:S310W;ENSP00000427011:S214W	ENSP00000323164:S20W	S	-	2	0	FAM189B	153487545	0.995000	0.38212	1.000000	0.80357	0.966000	0.64601	4.863000	0.62983	2.537000	0.85549	0.655000	0.94253	TCG	FAM189B	-	NULL	ENSG00000160767		0.592	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189B	HGNC	protein_coding	OTTHUMT00000087224.1	-	0	32	0	G	NM_006589		155220921	-1	tier1	-	no_errors	ENST00000361361	ensembl	human	known	74_37	missense	43.48	13	10	SNP	1.000	C	C	155220921	G	C	155220921	3	2	147	1	0	0	0	0	1	0	0	0	5536	1059	37	5	1097	5	FAM189B	1	155220921	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	200285	155220921	94029700	27	37382											
IQGAP3	128239	genome.wustl.edu	37	chr1	156502788	156502788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcagaagcaggctacGggtgttggagtcatcagcat	10	8	12	11	1	3	1	3	0	0	1	3	2	3	2	2	3	3	4	2	3	2	2	rs200621017	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:156502788G>T	ENST00000361170.2	-	32	4097	c.4087C>A	c.(4087-4089)Cgt>Agt	p.R1363S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1363					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)					AGCAGGCTACGGGTGTTGGAG	0.577																																																	0													227	176	194					1																	156502788		2203	4300	6503	SO:0001583	missense	0			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.4087C>A	1.37:g.156502788G>T	ENSP00000354451:p.Arg1363Ser		Q5T3H8	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.R1363S	ENST00000361170.2	37	c.4087	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414217	0.25465	.	.	ENSG00000183856	ENST00000361170	T	0.41758	0.99	4.23	2.12	0.27331	.	0.765932	0.11552	N	0.552704	T	0.15219	0.0367	L	0.34521	1.04	0.09310	N	1	B	0.24483	0.104	B	0.19946	0.027	T	0.25117	-1.0141	10	0.42905	T	0.14	-1.6696	11.1955	0.48711	0.0:0.0:0.6103:0.3897	.	1363	Q86VI3	IQGA3_HUMAN	S	1363	ENSP00000354451:R1363S	ENSP00000354451:R1363S	R	-	1	0	IQGAP3	154769412	0.323000	0.24643	0.009000	0.14445	0.039000	0.13416	2.095000	0.41729	1.087000	0.41251	0.462000	0.41574	CGT	IQGAP3	-	NULL	ENSG00000183856		0.577	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	-	0	75	0	G	NM_178229		156502788	-1	tier1	-	no_errors	ENST00000361170	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.035	T	T	156502788	G	T	156502788	3	4	147	1	0	0	0	0	1	0	0	0	7843	1116	39	2	836	2	IQGAP3	1	156502788	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1281867	156502788	92747833	28	37383											
FCRL5	83416	genome.wustl.edu	37	chr1	157504488	157504488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaattccctgaatgtccttCagtcagagagaagctgaagg	12	10	11	8	0	2	4	2	2	0	2	4	5	4	4	2	1	1	2	2	1	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:157504488C>T	ENST00000361835.3	-	8	1754	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	FCRL5_ENST00000368190.3_Missense_Mutation_p.E533K|FCRL5_ENST00000368189.3_Missense_Mutation_p.E533K|FCRL5_ENST00000356953.4_Missense_Mutation_p.E533K|FCRL5_ENST00000368191.3_Missense_Mutation_p.E448K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	533	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAATGTCCTTCAGTCAGAGAG	0.502																																																	0													56	56	56					1																	157504488		2203	4300	6503	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1597G>A	1.37:g.157504488C>T	ENSP00000354691:p.Glu533Lys		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E533K	ENST00000361835.3	37	c.1597	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	2.382	-0.341820	0.05243	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	3.39	-5.11	0.02901	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.048620	0.07614	N	0.925857	T	0.03178	0.0093	L	0.38175	1.15	0.09310	N	1	B;B;P;P;P;P	0.44521	0.151;0.233;0.486;0.784;0.837;0.763	B;B;B;P;B;B	0.45310	0.184;0.176;0.098;0.476;0.281;0.358	T	0.18524	-1.0334	10	0.38643	T	0.18	.	0.2426	0.00194	0.2966:0.1936:0.1473:0.3625	.	564;448;533;533;533;533	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	K	533;533;533;448;533	ENSP00000354691:E533K;ENSP00000349434:E533K;ENSP00000357173:E533K;ENSP00000357174:E448K;ENSP00000357172:E533K	ENSP00000349434:E533K	E	-	1	0	FCRL5	155771112	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.739000	0.00379	-0.863000	0.04084	-0.823000	0.03104	GAA	FCRL5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143297		0.502	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	-	0	78	0	C	NM_031281		157504488	-1	tier1	-	no_errors	ENST00000356953	ensembl	human	known	74_37	missense	57.14	24	32	SNP	0.000	T	T	157504488	C	T	157504488	3	4	147	1	0	0	0	0	1	0	0	0	5820	835	29	3	1376	3	FCRL5	1	157504488	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	1001700	157504488	91746133	29	37384											
SPTA1	6708	genome.wustl.edu	37	chr1	158606544	158606544	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggagctcactcgtatcaActtctccctaaaatcaagga	12	10	7	12	1	4	0	3	0	1	0	6	2	4	2	1	2	2	2	1	2	5	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:158606544A>T	ENST00000368147.4	-	37	5377	c.5197T>A	c.(5197-5199)Ttg>Atg	p.L1733M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1733					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)					ACTCGTATCAACTTCTCCCTA	0.473																																																	0													105	102	103					1																	158606544		1878	4114	5992	SO:0001583	missense	0			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.5197T>A	1.37:g.158606544A>T	ENSP00000357129:p.Leu1733Met		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.L1733M	ENST00000368147.4	37	c.5197	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898142	0.33535	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48836	0.8;1.34	5.13	-1.13	0.09775	.	.	.	.	.	T	0.36220	0.0959	L	0.43152	1.355	0.27353	N	0.956189	D	0.64830	0.994	D	0.70227	0.968	T	0.11891	-1.0569	9	0.41790	T	0.15	.	5.6186	0.17446	0.3697:0.0:0.4708:0.1595	.	1733	P02549	SPTA1_HUMAN	M	1733	ENSP00000357130:L1733M;ENSP00000357129:L1733M	ENSP00000357129:L1733M	L	-	1	2	SPTA1	156873168	0.999000	0.42202	0.672000	0.29872	0.004000	0.04260	0.779000	0.26746	-0.103000	0.12175	-0.421000	0.06004	TTG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	40	0	A	NM_003126		158606544	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.966	T	T	158606544	A	T	158606544	3	4	147	1	0	0	0	0	1	0	0	0	15163	40	2	5	2126	5	SPTA1	1	158606544	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	1102056	158606544	90644077	30	37385											
UAP1	6675	genome.wustl.edu	37	chr1	162569093	162569093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgtggcagataaagaattCcatgcacctctaatcatcga	14	11	7	9	1	2	2	1	0	1	2	4	3	3	2	2	1	1	2	2	1	5	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:162569093C>A	ENST00000367925.1	+	10	1541	c.1509C>A	c.(1507-1509)ttC>ttA	p.F503L	UAP1_ENST00000367924.1_Missense_Mutation_p.F502L|UAP1_ENST00000271469.3_Missense_Mutation_p.F503L|UAP1_ENST00000367926.4_Missense_Mutation_p.F486L			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	503					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)	p.F486F(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATAAAGAATTCCATGCACCTC	0.373																																																	1	Substitution - coding silent(1)	stomach(1)											98	92	94					1																	162569093		2203	4300	6503	SO:0001583	missense	0			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1509C>A	1.37:g.162569093C>A	ENSP00000356902:p.Phe503Leu		B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	pfam_UDPGP_trans	p.F503L	ENST00000367925.1	37	c.1509		1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334606	0.60853	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.55	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	L	0.56769	1.78	0.54753	D	0.999980	B	0.32203	0.36	B	0.32211	0.142	T	0.11108	-1.0601	9	0.39692	T	0.17	-17.7282	10.0722	0.42339	0.0:0.7809:0.0:0.2191	.	486	Q16222-2	.	L	486;503;503;502	ENSP00000356903:F486L;ENSP00000271469:F503L;ENSP00000356902:F503L;ENSP00000356901:F502L	ENSP00000271469:F503L	F	+	3	2	UAP1	160835717	0.977000	0.34250	1.000000	0.80357	0.986000	0.74619	0.116000	0.15561	0.330000	0.23485	-0.736000	0.03550	TTC	UAP1	-	NULL	ENSG00000117143		0.373	UAP1-002	KNOWN	basic	protein_coding	UAP1	HGNC	protein_coding	OTTHUMT00000083203.1		0	44	0	C	NM_003115		162569093	1			no_errors	ENST00000271469	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	162569093	C	A	162569093	3	1	147	1	0	0	0	0	1	0	0	0	16874	854	30	3	1492	3	UAP1	1	162569093	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	3962549	162569093	86681528	31	37386											
PBX1	5087	genome.wustl.edu	37	chr1	164790798	164790798	+	Missense_Mutation	SNP	A	A	G	1	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	atacccttcgccatgttatcAgccagacaggaggatacagt	12	9	9	11	1	1	1	1	0	0	1	2	3	1	3	3	2	3	1	3	2	3	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:164790798A>G	ENST00000420696.2	+	8	1323	c.1135A>G	c.(1135-1137)Agc>Ggc	p.S379G	PBX1_ENST00000540246.1_Missense_Mutation_p.S274G|PBX1_ENST00000367897.1_Missense_Mutation_p.Q341R|PBX1_ENST00000560641.1_Missense_Mutation_p.S274G|PBX1_ENST00000540236.1_Missense_Mutation_p.S379G|PBX1_ENST00000401534.1_Missense_Mutation_p.Q341R|PBX1_ENST00000559240.1_Missense_Mutation_p.S288G	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	379					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						CCATGTTATCAGCCAGACAGG	0.493			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																			Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"L, M"	0													137	128	131					1																	164790798		2203	4300	6503	SO:0001583	missense	0			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1135A>G	1.37:g.164790798A>G	ENSP00000405890:p.Ser379Gly		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S379G	ENST00000420696.2	37	c.1135	CCDS1246.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.581|7.581	0.668716|0.668716	0.14776|0.14776	.|.	.|.	ENSG00000185630|ENSG00000185630	ENST00000367897;ENST00000401534|ENST00000420696;ENST00000540236;ENST00000540246	D;D|D;D;D	0.86432|0.88975	-2.12;-2.12|-2.34;-2.38;-2.45	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58779|0.58779	0.2146|0.2146	N|N	0.04297|0.04297	-0.235|-0.235	.|.	.|.	.|.	B|B;B;B;B	0.09022|0.10296	0.002|0.0;0.001;0.003;0.001	B|B;B;B;B	0.01281|0.10450	0.0|0.001;0.002;0.005;0.001	T|T	0.55661|0.55661	-0.8106|-0.8106	8|9	0.30078|0.02654	T|T	0.28|1	-15.4361|-15.4361	15.1057|15.1057	0.72319|0.72319	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	341|274;379;379;379	Q53YC7|B7Z774;A8K5V0;F5H4U9;P40424	.|.;.;.;PBX1_HUMAN	R|G	341|379;379;274	ENSP00000356872:Q341R;ENSP00000384856:Q341R|ENSP00000405890:S379G;ENSP00000439943:S379G;ENSP00000440869:S274G	ENSP00000356872:Q341R|ENSP00000405890:S379G	Q|S	+|+	2|1	0|0	PBX1|PBX1	163057422|163057422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.832000|8.832000	0.92079|0.92079	2.044000|2.044000	0.60594|0.60594	0.460000|0.460000	0.39030|0.39030	CAG|AGC	PBX1	-	NULL	ENSG00000185630		0.493	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	-	0	72	0	A	NM_002585		164790798	1	tier1	-	no_errors	ENST00000420696	ensembl	human	known	74_37	missense	47.62	22	20	SNP	1.000	G	G	164790798	A	G	164790798	3	3	147	1	0	0	0	0	1	0	0	0	11531	188	7	4	1165	4	PBX1	1	164790798	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	2221705	164790798	84459823	32	37387											
TBX19	9095	genome.wustl.edu	37	chr1	168260525	168260525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacggggaatgggtgcccGctggcaagccagaggtctcc	8	6	15	12	2	2	1	1	0	1	1	3	2	2	2	3	5	3	2	3	5	3	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:168260525G>T	ENST00000367821.3	+	2	382	c.331G>T	c.(331-333)Gct>Tct	p.A111S		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	111					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)					ATGGGTGCCCGCTGGCAAGCC	0.592																																																	0													78	81	80					1																	168260525		2203	4300	6503	SO:0001583	missense	0			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.331G>T	1.37:g.168260525G>T	ENSP00000356795:p.Ala111Ser		Q52M53	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.A111S	ENST00000367821.3	37	c.331	CCDS1272.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.63|17.63	3.438314|3.438314	0.62955|0.62955	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969	D|.	0.88741|.	-2.42|.	4.99|4.99	4.99|4.99	0.66335|0.66335	p53-like transcription factor, DNA-binding (1);|.	0.127989|.	0.52532|.	D|.	0.000074|.	T|T	0.46718|0.46718	0.1407|0.1407	L|L	0.31664|0.31664	0.95|0.95	.|.	.|.	.|.	P;D|.	0.58970|.	0.582;0.984|.	P;P|.	0.62089|.	0.563;0.898|.	T|T	0.40997|0.40997	-0.9533|-0.9533	9|4	0.66056|.	D|.	0.02|.	.|.	18.059|18.059	0.89371|0.89371	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	111;42|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	S|L	111;51|43	ENSP00000356795:A111S|.	ENSP00000356795:A111S|.	A|R	+|+	1|2	0|0	TBX19|TBX19	166527149|166527149	1.000000|1.000000	0.71417|0.71417	0.898000|0.898000	0.35279|0.35279	0.779000|0.779000	0.44077|0.44077	9.125000|9.125000	0.94402|0.94402	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	GCT|CGC	TBX19	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury	ENSG00000143178		0.592	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX19	HGNC	protein_coding	OTTHUMT00000083825.1	-	0	107	0	G	NM_005149		168260525	1	tier1	-	no_errors	ENST00000367821	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.998	T	T	168260525	G	T	168260525	3	4	147	1	0	0	0	0	1	0	0	0	15701	1087	38	2	337	2	TBX19	1	168260525	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	3469727	168260525	80990096	33	37388											
CACNA1E	777	genome.wustl.edu	37	chr1	181701652	181701652	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accatgaacccgctcaacccCctcaacccgctcagctccct	9	6	4	22	2	3	1	3	1	0	0	4	1	4	1	6	0	4	3	6	0	3	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:181701652C>G	ENST00000367573.2	+	20	2430	c.2430C>G	c.(2428-2430)ccC>ccG	p.P810P	CACNA1E_ENST00000357570.5_Silent_p.P761P|CACNA1E_ENST00000367567.4_Silent_p.P417P|CACNA1E_ENST00000526775.1_Silent_p.P791P|CACNA1E_ENST00000358338.5_Silent_p.P742P|CACNA1E_ENST00000360108.3_Silent_p.P791P|CACNA1E_ENST00000367570.1_Silent_p.P810P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	810					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						cgctcaaccccctcaacccgc	0.657																																																	0													44	60	55					1																	181701652		1772	3409	5181	SO:0001819	synonymous_variant	0			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.2430C>G	1.37:g.181701652C>G			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.P810	ENST00000367573.2	37	c.2430	CCDS55664.1	1																																																																																			CACNA1E	-	NULL	ENSG00000198216		0.657	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	200	0	C	NM_000721		181701652	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	41.67	20	15	SNP	0.778	G	G	181701652	C	G	181701652	2	3	147	1	0	0	0	0	0	0	0	1	2549	610	22	5		5	CACNA1E	1	181701652	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	13441127	181701652	67548969	34	37389											
LHX9	56956	genome.wustl.edu	37	chr1	197890745	197890745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagggcggccccggaagcGgaagagcccagcgctgggag	10	1	19	11	4	0	1	0	0	0	1	0	5	0	4	3	5	3	1	3	5	3	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:197890745G>A	ENST00000367387.4	+	3	1114	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	LHX9_ENST00000561173.1_Missense_Mutation_p.R236Q|LHX9_ENST00000337020.2_Missense_Mutation_p.R230Q|LHX9_ENST00000367390.3_Missense_Mutation_p.R221Q|LHX9_ENST00000367391.1_Missense_Mutation_p.R221Q	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	230					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCCCGGAAGCGGAAGAGCCCA	0.657																																																	0													25	22	23					1																	197890745		2200	4297	6497	SO:0001583	missense	0			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"Homeoboxes / LIM class"	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.689G>A	1.37:g.197890745G>A	ENSP00000356357:p.Arg230Gln		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.R230Q	ENST00000367387.4	37	c.689	CCDS1393.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.814646	0.96982	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	T;D;T;D	0.89810	0.3;-2.55;0.22;-2.57	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	M	0.79926	2.475	0.80722	D	1	D;D;D	0.63046	0.992;0.964;0.99	P;P;P	0.49922	0.573;0.626;0.593	D	0.92438	0.5959	10	0.54805	T	0.06	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	230;221;221	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	Q	221;221;230;230	ENSP00000356361:R221Q;ENSP00000356360:R221Q;ENSP00000337969:R230Q;ENSP00000356357:R230Q	ENSP00000337969:R230Q	R	+	2	0	LHX9	196157368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.257000	0.95545	2.941000	0.99782	0.655000	0.94253	CGG	LHX9	-	NULL	ENSG00000143355		0.657	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX9	HGNC	protein_coding	OTTHUMT00000086547.2	-	0	114	0	G	NM_020204		197890745	1	tier1	-	no_errors	ENST00000367387	ensembl	human	known	74_37	missense	53.85	12	14	SNP	1.000	A	A	197890745	G	A	197890745	3	1	147	1	0	0	0	0	1	0	0	0	8806	1116	39	1	731	1	LHX9	1	197890745	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	16189093	197890745	51359876	35	37390											
KIF21B	23046	genome.wustl.edu	37	chr1	200959451	200959451	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctgcaggaggaacagctCctcccttttctggggtcaga	7	10	11	13	0	2	1	1	0	1	1	5	3	5	3	3	4	3	2	3	4	1	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:200959451C>A	ENST00000422435.2	-	20	3161	c.2845G>T	c.(2845-2847)Gag>Tag	p.E949*	KIF21B_ENST00000360529.5_Nonsense_Mutation_p.E949*|KIF21B_ENST00000332129.2_Nonsense_Mutation_p.E949*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.E949*	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	949					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						AGGAACAGCTCCTCCCTTTTC	0.637																																																	0													20	20	20					1																	200959451		2203	4300	6503	SO:0001587	stop_gained	0			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.2845G>T	1.37:g.200959451C>A	ENSP00000411831:p.Glu949*		B2RP62|B7ZMI0|Q5T4J3	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.E949*	ENST00000422435.2	37	c.2845	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.529882	0.97641	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	18.7361	0.91755	0.0:1.0:0.0:0.0	.	.	.	.	X	949	.	ENSP00000328494:E949X	E	-	1	0	KIF21B	199226074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.966000	0.70395	2.423000	0.82170	0.655000	0.94253	GAG	KIF21B	-	NULL	ENSG00000116852		0.637	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	-	0	40	0	C	XM_371332		200959451	-1	tier1	-	no_errors	ENST00000422435	ensembl	human	known	74_37	nonsense	23.08	10	3	SNP	1.000	A	A	200959451	C	A	200959451	4	1	147	1	0	0	0	0	0	1	0	0	8316	864	30	3	2089	3	KIF21B	1	200959451	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	3068706	200959451	48291170	36	37391											
IRF6	3664	genome.wustl.edu	37	chr1	209963069	209963069	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggccattcttccccaaaGcataagtagatctcaaacgg	12	10	7	12	1	3	1	1	0	3	1	5	1	4	1	3	2	2	2	3	2	4	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:209963069G>T	ENST00000367021.3	-	8	1294	c.1122C>A	c.(1120-1122)tgC>tgA	p.C374*	IRF6_ENST00000542854.1_Nonsense_Mutation_p.C279*|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	374			C -> W (in VWS1). {ECO:0000269|PubMed:12219090}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTCCCCAAAGCATAAGTAGA	0.453										HNSCC(57;0.16)																																							0			GRCh37	CM022406	IRF6	M							159	134	142					1																	209963069		2203	4300	6503	SO:0001587	stop_gained	0			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1122C>A	1.37:g.209963069G>T	ENSP00000355988:p.Cys374*		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Nonsense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.C374*	ENST00000367021.3	37	c.1122	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.964809	0.97967	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	.	.	.	6.06	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2369	0.59974	0.1314:0.0:0.8686:0.0	.	.	.	.	X	374;279	.	.	C	-	3	2	IRF6	208029692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.494000	0.35616	1.571000	0.49722	0.655000	0.94253	TGC	IRF6	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000117595		0.453	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	HGNC	protein_coding	OTTHUMT00000088827.1		0	76	0	G	NM_006147		209963069	-1			no_errors	ENST00000367021	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	T	T	209963069	G	T	209963069	4	4	147	1	0	0	0	0	0	1	0	0	7861	963	34	3	289	3	IRF6	1	209963069	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	9003618	209963069	39287552	37	37392											
BPNT1	10380	genome.wustl.edu	37	chr1	220236122	220236122	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcctgctcctcctactcGcagcacagcatcggggttca	7	11	8	15	2	1	0	1	0	0	0	6	0	4	0	3	2	4	5	3	2	1	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:220236122G>T	ENST00000469520.2	-	8	1098	c.649C>A	c.(649-651)Cga>Aga	p.R217R	BPNT1_ENST00000322067.7_Silent_p.R217R|BPNT1_ENST00000482136.1_5'Flank|BPNT1_ENST00000414869.2_Silent_p.R181R|BPNT1_ENST00000544404.1_Silent_p.R162R|BPNT1_ENST00000354807.3_Silent_p.R232R			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	217					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CCTCCTACTCGCAGCACAGCA	0.418																																																	0													130	142	138					1																	220236122		1970	4158	6128	SO:0001819	synonymous_variant	0			AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.649C>A	1.37:g.220236122G>T			A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Silent	SNP	pfam_Inositol_monophosphatase	p.R217	ENST00000469520.2	37	c.649	CCDS41469.1	1																																																																																			BPNT1	-	pfam_Inositol_monophosphatase	ENSG00000162813		0.418	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPNT1	HGNC	protein_coding	OTTHUMT00000091137.2	-	0	108	0	G	NM_006085		220236122	-1	tier1	-	no_errors	ENST00000322067	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.890	T	T	220236122	G	T	220236122	2	4	147	1	0	0	0	0	0	0	0	1	1498	1095	38	2		2	BPNT1	1	220236122	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	10273053	220236122	29014499	38	37393											
GALNT2	2590	genome.wustl.edu	37	chr1	230415060	230415060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgcagaaatgggaacaGatcgagggcaactccaagct	13	7	12	9	1	1	2	0	0	1	2	3	4	2	3	1	2	4	3	1	2	4	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:230415060G>T	ENST00000366672.4	+	16	1644	c.1572G>T	c.(1570-1572)caG>caT	p.Q524H	GALNT2_ENST00000543760.1_Missense_Mutation_p.Q486H|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	524	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				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)				AATGGGAACAGATCGAGGGCA	0.577																																																	0													62	57	59					1																	230415060		2203	4300	6503	SO:0001583	missense	0			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.1572G>T	1.37:g.230415060G>T	ENSP00000355632:p.Gln524His		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Q524H	ENST00000366672.4	37	c.1572	CCDS1582.1	1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434818	0.25813	.	.	ENSG00000143641	ENST00000543760;ENST00000366672	T;T	0.26518	1.73;1.73	5.45	4.34	0.51931	Ricin B-related lectin (1);Ricin B lectin (3);	0.117295	0.64402	D	0.000009	T	0.10594	0.0259	N	0.04880	-0.145	0.80722	D	1	B;B	0.19331	0.035;0.01	B;B	0.12837	0.008;0.005	T	0.17107	-1.0380	10	0.25106	T	0.35	.	6.3078	0.21149	0.2684:0.0:0.7316:0.0	.	524;486	Q10471;G3V1S6	GALT2_HUMAN;.	H	486;524	ENSP00000445017:Q486H;ENSP00000355632:Q524H	ENSP00000355632:Q524H	Q	+	3	2	GALNT2	228481683	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.208000	0.58486	2.576000	0.86940	0.491000	0.48974	CAG	GALNT2	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000143641		0.577	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT2	HGNC	protein_coding	OTTHUMT00000092158.1	-	0	53	0	G	NM_004481		230415060	1	tier1	-	no_errors	ENST00000366672	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T	T	230415060	G	T	230415060	3	4	147	1	0	0	0	0	1	0	0	0	6238	933	33	3	1634	3	GALNT2	1	230415060	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	10178938	230415060	18835561	39	37394											
RYR2	6262	genome.wustl.edu	37	chr1	237947346	237947346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctgagcacatgcccaacGatacccgacttcagactttt	10	11	6	14	2	2	2	1	1	1	1	3	4	2	2	2	0	4	1	2	0	2	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:237947346G>A	ENST00000366574.2	+	90	12651	c.12334G>A	c.(12334-12336)Gat>Aat	p.D4112N	RYR2_ENST00000360064.6_Missense_Mutation_p.D4118N|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.D4096N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4112					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)			CATGCCCAACGATACCCGACT	0.522																																																	0													57	57	57					1																	237947346		1960	4172	6132	SO:0001583	missense	0			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.12334G>A	1.37:g.237947346G>A	ENSP00000355533:p.Asp4112Asn		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.D4118N	ENST00000366574.2	37	c.12352	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851323	0.91355	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97888	-4.59;-4.59;-4.59	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000003	D	0.98595	0.9530	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	D	0.99808	1.1039	10	0.87932	D	0	.	19.6415	0.95760	0.0:0.0:1.0:0.0	.	1086;4112	B4DGV4;Q92736	.;RYR2_HUMAN	N	4112;4118;4096;1086	ENSP00000355533:D4112N;ENSP00000353174:D4118N;ENSP00000443798:D4096N	ENSP00000353174:D4118N	D	+	1	0	RYR2	236013969	1.000000	0.71417	0.270000	0.24601	0.828000	0.46876	9.813000	0.99286	2.651000	0.90000	0.561000	0.74099	GAT	RYR2	-	NULL	ENSG00000198626		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	47	0	G	NM_001035		237947346	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	A	A	237947346	G	A	237947346	3	1	147	1	0	0	0	0	1	0	0	0	13814	1058	37	1	12692	1	RYR2	1	237947346	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	7532286	237947346	11303275	40	37395											
TPO	7173	genome.wustl.edu	37	chr2	1488582	1488582	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgacctgcccgggctgtGgctgcaccaggctttcttca	4	9	11	17	2	2	0	1	0	1	0	2	1	2	0	5	3	2	4	5	3	0	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:1488582G>A	ENST00000345913.4	+	9	1644	c.1553G>A	c.(1552-1554)tGg>tAg	p.W518*	TPO_ENST00000346956.3_Nonsense_Mutation_p.W518*|TPO_ENST00000329066.4_Nonsense_Mutation_p.W518*|TPO_ENST00000382201.3_Nonsense_Mutation_p.W518*|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Nonsense_Mutation_p.W518*|TPO_ENST00000382198.1_Nonsense_Mutation_p.W345*|TPO_ENST00000349624.3_Nonsense_Mutation_p.W345*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	518					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)	CCCGGGCTGTGGCTGCACCAG	0.612																																																	0													40	42	41					2																	1488582		2203	4299	6502	SO:0001587	stop_gained	0				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.1553G>A	2.37:g.1488582G>A	ENSP00000318820:p.Trp518*		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.W518*	ENST00000345913.4	37	c.1553	CCDS1643.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.14|18.14	3.556863|3.556863	0.65425|0.65425	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|.	.|.	.|.	5.3|5.3	-10.6|-10.6	0.00265|0.00265	.|.	.|2.643940	.|0.00888	.|N	.|0.002218	T|.	0.23649|.	0.0572|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16247|.	-1.0409|.	4|.	.|0.36615	.|T	.|0.2	-0.0634|-0.0634	2.7079|2.7079	0.05166|0.05166	0.1106:0.3766:0.2098:0.303|0.1106:0.3766:0.2098:0.303	.|.	.|.	.|.	.|.	S|X	50|518;518;518;345;518;518;345;447;49	.|.	.|ENSP00000329869:W518X	G|W	+|+	1|2	0|0	TPO|TPO	1467589|1467589	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.150000|-1.150000	0.03178|0.03178	-3.978000|-3.978000	0.00085|0.00085	-1.117000|-1.117000	0.02048|0.02048	GGC|TGG	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000115705		0.612	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	-	0	131	0	G	NM_000547		1488582	1	tier1	-	no_errors	ENST00000329066	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	0.000	A	A	1488582	G	A	1488582	4	1	147	1	0	0	0	0	0	1	0	0	16458	1357	47	3	1583	3	TPO	2	1488582	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09		1488582	241710791	41	37396											
KIDINS220	57498	genome.wustl.edu	37	chr2	8890423	8890423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagagggagcggggggtacGccagtcctccaatactgatc	9	7	15	10	2	0	2	0	1	0	1	3	3	2	3	3	4	3	2	3	4	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:8890423G>A	ENST00000256707.3	-	24	3414	c.3233C>T	c.(3232-3234)gCg>gTg	p.A1078V	KIDINS220_ENST00000418530.1_Missense_Mutation_p.A1036V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A1078V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A1078V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1078					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)					CGGGGGGTACGCCAGTCCTCC	0.557																																																	0													39	43	41					2																	8890423		1952	4132	6084	SO:0001583	missense	0			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.3233C>T	2.37:g.8890423G>A	ENSP00000256707:p.Ala1078Val		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A1078V	ENST00000256707.3	37	c.3233	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	9.683	1.149847	0.21371	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.67171	0.84;-0.25;-0.21;-0.17;-0.21;-0.22	5.79	4.83	0.62350	.	0.218347	0.47852	D	0.000203	T	0.48519	0.1504	N	0.08118	0	0.23693	N	0.997095	B;B;B;B;B	0.29270	0.217;0.155;0.2;0.24;0.089	B;B;B;B;B	0.29440	0.026;0.03;0.047;0.102;0.047	T	0.40924	-0.9537	10	0.32370	T	0.25	.	17.5816	0.87970	0.0:0.0:0.8682:0.1318	.	1079;1079;762;1036;1078	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	V	825;762;1078;1078;1036;1078;1079;87	ENSP00000420364:A825V;ENSP00000256707:A1078V;ENSP00000411849:A1078V;ENSP00000414923:A1036V;ENSP00000418974:A1078V;ENSP00000419964:A1079V	ENSP00000256707:A1078V	A	-	2	0	KIDINS220	8807874	1.000000	0.71417	0.157000	0.22605	0.042000	0.13812	4.126000	0.57937	2.733000	0.93635	0.655000	0.94253	GCG	KIDINS220	-	NULL	ENSG00000134313		0.557	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	-	0	41	0	G	NM_020738		8890423	-1	tier1	-	no_errors	ENST00000256707	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.286	A	A	8890423	G	A	8890423	3	1	147	1	0	0	0	0	1	0	0	0	8298	1087	38	1	2110	1	KIDINS220	2	8890423	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	7401841	8890423	234308950	42	37397											
KIF3C	3797	genome.wustl.edu	37	chr2	26152860	26152860	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccattgccatggcaacCcgagcatactggctgatagg	10	7	11	13	1	0	1	0	1	0	0	0	3	0	1	4	3	4	3	4	3	3	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:26152860C>A	ENST00000264712.3	-	6	2658	c.2079G>T	c.(2077-2079)cgG>cgT	p.R693R	KIF3C_ENST00000405914.1_Silent_p.R693R|KIF3C_ENST00000496378.1_5'UTR	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	693	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|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)					CCATGGCAACCCGAGCATACT	0.577																																																	0													131	127	128					2																	26152860		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2079G>T	2.37:g.26152860C>A			O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R693	ENST00000264712.3	37	c.2079	CCDS1719.1	2																																																																																			KIF3C	-	NULL	ENSG00000084731		0.577	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1	-	0	118	0	C			26152860	-1	tier1	-	no_errors	ENST00000264712	ensembl	human	known	74_37	silent	28.57	40	16	SNP	1.000	A	A	26152860	C	A	26152860	2	1	147	1	0	0	0	0	0	0	0	1	8329	610	22	3		3	KIF3C	2	26152860	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	17262437	26152860	217046513	43	37398											
DYSF	8291	genome.wustl.edu	37	chr2	71838712	71838712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtcatcaggaacctcCggaagaaccccaactttgac	11	8	8	14	1	2	2	2	1	0	1	3	4	3	4	5	2	3	0	5	2	4	1	rs368601323		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:71838712C>T	ENST00000258104.3	+	38	4400	c.4123C>T	c.(4123-4125)Cgg>Tgg	p.R1375W	DYSF_ENST00000409744.1_Missense_Mutation_p.R1362W|DYSF_ENST00000409762.1_Missense_Mutation_p.R1392W|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.R1375W|DYSF_ENST00000413539.2_Missense_Mutation_p.R1406W|DYSF_ENST00000409582.3_Missense_Mutation_p.R1392W|DYSF_ENST00000409651.1_Missense_Mutation_p.R1407W|DYSF_ENST00000409366.1_Missense_Mutation_p.R1376W|DYSF_ENST00000410020.3_Missense_Mutation_p.R1393W|DYSF_ENST00000410041.1_Missense_Mutation_p.R1393W|DYSF_ENST00000394120.2_Missense_Mutation_p.R1376W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1375	C2 5. {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						CAGGAACCTCCGGAAGAACCC	0.577																																																	0													58	56	57					2																	71838712		2203	4300	6503	SO:0001583	missense	0			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.4123C>T	2.37:g.71838712C>T	ENSP00000258104:p.Arg1375Trp		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.R1406W	ENST00000258104.3	37	c.4216	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624353	0.87560	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.78	4.83	0.62350	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.103860	0.64402	D	0.000003	D	0.82825	0.5121	L	0.34521	1.04	0.41309	D	0.987091	D;D;D;D;D;P;P;P;P;D;D;P;D;D;D	0.58970	0.978;0.972;0.972;0.972;0.972;0.943;0.943;0.943;0.906;0.972;0.984;0.952;0.972;0.972;0.977	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.58077	0.773;0.742;0.742;0.742;0.742;0.54;0.54;0.54;0.54;0.742;0.54;0.54;0.742;0.742;0.832	D	0.83956	0.0319	10	0.87932	D	0	-25.0615	10.6676	0.45739	0.3105:0.6895:0.0:0.0	.	118;1407;1393;1376;1362;1393;1362;1392;1361;1406;1392;1375;1361;1376;1375	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	W	1406;1392;1392;1375;1375;1407;1376;1362;1376;1393;1393	ENSP00000407046:R1406W;ENSP00000387137:R1392W;ENSP00000386547:R1392W;ENSP00000398305:R1375W;ENSP00000258104:R1375W;ENSP00000386683:R1407W;ENSP00000377678:R1376W;ENSP00000386285:R1362W;ENSP00000386512:R1376W;ENSP00000386881:R1393W;ENSP00000386617:R1393W	ENSP00000258104:R1375W	R	+	1	2	DYSF	71692220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.632000	0.61311	2.739000	0.93911	0.561000	0.74099	CGG	DYSF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000135636		0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0	122	0	C	NM_003494		71838712	1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	missense	32.69	35	17	SNP	1.000	T	T	71838712	C	T	71838712	3	4	147	1	0	0	0	0	1	0	0	0	4873	643	23	1	4465	1	DYSF	2	71838712	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	45685852	71838712	171360661	44	37399											
LOXL3	84695	genome.wustl.edu	37	chr2	74762859	74762859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgactcgcccctcatgttgGctgcggcccccactgagtcg	4	9	11	17	4	1	1	1	1	0	0	4	2	1	1	4	2	1	2	4	2	0	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:74762859G>C	ENST00000264094.3	-	8	1343	c.1272C>G	c.(1270-1272)agC>agG	p.S424R	LOXL3_ENST00000409986.1_Missense_Mutation_p.S279R|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.S279R	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	424	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCTCATGTTGGCTGCGGCCCC	0.607																																																	0													38	45	42					2																	74762859		2203	4300	6503	SO:0001583	missense	0			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1272C>G	2.37:g.74762859G>C	ENSP00000264094:p.Ser424Arg		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.S424R	ENST00000264094.3	37	c.1272	CCDS1953.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.816086|2.816086	0.50527|0.50527	.|.	.|.	ENSG00000115318|ENSG00000115318	ENST00000420535|ENST00000264094;ENST00000393937;ENST00000409986	.|T;T;T	.|0.33654	.|1.4;1.4;1.4	5.11|5.11	1.92|1.92	0.25849|0.25849	.|Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.|0.093850	.|0.85682	.|D	.|0.000000	T|T	0.44159|0.44159	0.1280|0.1280	L|L	0.56396|0.56396	1.775|1.775	0.34797|0.34797	D|D	0.736346|0.736346	.|P;P;B	.|0.51653	.|0.947;0.828;0.411	.|P;P;B	.|0.57468	.|0.691;0.821;0.321	T|T	0.51872|0.51872	-0.8650|-0.8650	5|10	.|0.37606	.|T	.|0.19	.|.	7.2269|7.2269	0.26020|0.26020	0.4119:0.0:0.5881:0.0|0.4119:0.0:0.5881:0.0	.|.	.|279;279;424	.|B9A025;Q6IPL7;P58215	.|.;.;LOXL3_HUMAN	A|R	151|424;279;279	.|ENSP00000264094:S424R;ENSP00000377512:S279R;ENSP00000386545:S279R	.|ENSP00000264094:S424R	P|S	-|-	1|3	0|2	LOXL3|LOXL3	74616367|74616367	0.909000|0.909000	0.30893|0.30893	0.885000|0.885000	0.34714|0.34714	0.992000|0.992000	0.81027|0.81027	0.496000|0.496000	0.22499|0.22499	0.258000|0.258000	0.21686|0.21686	0.563000|0.563000	0.77884|0.77884	CCA|AGC	LOXL3	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000115318		0.607	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	HGNC	protein_coding	OTTHUMT00000252215.1	-	0	49	0	G	NM_032603		74762859	-1	tier1	-	no_errors	ENST00000264094	ensembl	human	known	74_37	missense	28.57	10	4	SNP	0.964	C	C	74762859	G	C	74762859	3	2	147	1	0	0	0	0	1	0	0	0	8936	1194	42	5	1017	5	LOXL3	2	74762859	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2924147	74762859	168436514	45	37400											
MAL	4118	genome.wustl.edu	37	chr2	95719156	95719156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatagccactctgctctacGtggtccatgcggtgttctct	6	13	9	13	2	3	0	0	0	3	0	5	0	4	0	2	2	4	2	2	2	2	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:95719156G>A	ENST00000309988.4	+	4	527	c.418G>A	c.(418-420)Gtg>Atg	p.V140M	MAL_ENST00000354078.3_Missense_Mutation_p.V84M|MAL_ENST00000353004.3_Missense_Mutation_p.V98M|MAL_ENST00000349807.3_Missense_Mutation_p.V42M|AC103563.9_ENST00000442200.1_RNA	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	140	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		TCTGCTCTACGTGGTCCATGC	0.512																																																	0													228	212	217					2																	95719156		2203	4300	6503	SO:0001583	missense	0				CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.418G>A	2.37:g.95719156G>A	ENSP00000310880:p.Val140Met		Q6FH77	Missense_Mutation	SNP	pfam_Marvel,prints_MAL	p.V140M	ENST00000309988.4	37	c.418	CCDS2006.1	2	.	.	.	.	.	.	.	.	.	.	G	13.86	2.361864	0.41801	.	.	ENSG00000172005	ENST00000309988;ENST00000353004;ENST00000354078;ENST00000349807	T;T	0.45668	1.64;0.89	5.57	2.84	0.33178	Marvel (1);MARVEL-like domain (1);	0.229924	0.46145	D	0.000317	T	0.29321	0.0730	L	0.48642	1.525	0.21897	N	0.99948	B;P;P;P	0.46656	0.389;0.719;0.882;0.875	B;B;B;B	0.36766	0.023;0.104;0.232;0.218	T	0.12656	-1.0539	10	0.34782	T	0.22	.	7.9755	0.30153	0.2543:0.0:0.7457:0.0	.	42;98;84;140	P21145-4;P21145-2;P21145-3;P21145	.;.;.;MAL_HUMAN	M	140;98;84;42	ENSP00000310880:V140M;ENSP00000306568:V98M	ENSP00000310880:V140M	V	+	1	0	MAL	95082883	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	2.464000	0.45067	0.429000	0.26202	0.650000	0.86243	GTG	MAL	-	pfam_Marvel	ENSG00000172005		0.512	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAL	HGNC	protein_coding	OTTHUMT00000254982.3	-	0	92	0	G	NM_002371		95719156	1	tier1	-	no_errors	ENST00000309988	ensembl	human	known	74_37	missense	14.55	47	8	SNP	1.000	A	A	95719156	G	A	95719156	3	1	147	1	0	0	0	0	1	0	0	0	9237	1145	40	1	432	1	MAL	2	95719156	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	20956297	95719156	147480217	46	37401											
AFF3	3899	genome.wustl.edu	37	chr2	100217961	100217961	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctgctctcggtctccGagtcagatccggagctgctc	5	10	13	13	3	3	1	1	0	2	1	7	4	4	3	2	3	4	4	2	3	0	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:100217961G>T	ENST00000409236.2	-	12	1419	c.1307C>A	c.(1306-1308)tCg>tAg	p.S436*	AFF3_ENST00000409579.1_Nonsense_Mutation_p.S461*|AFF3_ENST00000356421.2_Nonsense_Mutation_p.S461*|AFF3_ENST00000317233.4_Nonsense_Mutation_p.S436*			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	436					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						CTCGGTCTCCGAGTCAGATCC	0.662																																																	0													16	18	17					2																	100217961		2202	4299	6501	SO:0001587	stop_gained	0			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.1307C>A	2.37:g.100217961G>T	ENSP00000387207:p.Ser436*		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Nonsense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S461*	ENST00000409236.2	37	c.1382	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.251515	0.95305	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	.	.	.	5.17	4.3	0.51218	.	0.118717	0.34932	N	0.003568	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6378	0.62233	0.0748:0.0:0.9252:0.0	.	.	.	.	X	436;461;461;436;436;589;461	.	ENSP00000317421:S436X	S	-	2	0	AFF3	99584393	1.000000	0.71417	0.994000	0.49952	0.031000	0.12232	6.763000	0.74955	1.188000	0.43014	-0.245000	0.11935	TCG	AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.662	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3		0	67	0	G	NM_002285		100217961	-1			no_errors	ENST00000356421	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	0.997	T	T	100217961	G	T	100217961	4	4	147	1	0	0	0	0	0	1	0	0	358	1059	37	2	2421	2	AFF3	2	100217961	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	4498805	100217961	142981412	47	37402											
TGFBRAP1	9392	genome.wustl.edu	37	chr2	105924689	105924689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcactctatgttgacgcGctccttgtcgcccatcagca	7	10	8	16	4	2	1	1	1	1	0	4	1	3	1	2	0	1	4	2	0	1	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:105924689G>T	ENST00000393359.2	-	2	496	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R24S			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	24	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.R24C(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATGTTGACGCGCTCCTTGTCG	0.572																																					Esophageal Squamous(183;794 2019 9730 21801 48859)												1	Substitution - Missense(1)	large_intestine(1)											46	44	45					2																	105924689		2203	4300	6503	SO:0001583	missense	0			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.70C>A	2.37:g.105924689G>T	ENSP00000377027:p.Arg24Ser		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.R24S	ENST00000393359.2	37	c.70	CCDS2067.1	2	.	.	.	.	.	.	.	.	.	.	G	6.484	0.457515	0.12342	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.43294	0.95;0.95	4.82	2.06	0.26882	Citron-like (1);	0.373141	0.31601	N	0.007376	T	0.30634	0.0771	L	0.47716	1.5	0.09310	N	1	B	0.16166	0.016	B	0.14023	0.01	T	0.24297	-1.0164	10	0.12103	T	0.63	-10.6517	9.8764	0.41207	0.2602:0.0:0.7398:0.0	.	24	Q8WUH2	TGFA1_HUMAN	S	24	ENSP00000377027:R24S;ENSP00000258449:R24S	ENSP00000258449:R24S	R	-	1	0	TGFBRAP1	105291121	0.999000	0.42202	0.003000	0.11579	0.046000	0.14306	4.037000	0.57311	0.343000	0.23821	-0.140000	0.14226	CGC	TGFBRAP1	-	NULL	ENSG00000135966		0.572	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	HGNC	protein_coding	OTTHUMT00000253354.2		0	26	0	G	NM_004257		105924689	-1			no_errors	ENST00000258449	ensembl	human	known	74_37	missense	16.67	10	2	SNP	0.039	T	T	105924689	G	T	105924689	3	4	147	1	0	0	0	0	1	0	0	0	15871	1087	38	2	2556	2	TGFBRAP1	2	105924689	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	5706728	105924689	137274684	48	37403											
ST6GAL2	84620	genome.wustl.edu	37	chr2	107423166	107423166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgactggacttggtgcagGgcagtgcaccgcctggaagc	9	7	15	10	1	0	1	0	1	0	0	0	3	0	3	2	4	3	3	2	4	2	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:107423166G>T	ENST00000409382.3	-	6	2168	c.1558C>A	c.(1558-1560)Cct>Act	p.P520T	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P520T	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	520					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						CTTGGTGCAGGGCAGTGCACC	0.507																																																	0													107	101	103					2																	107423166		2203	4300	6503	SO:0001583	missense	0			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.1558C>A	2.37:g.107423166G>T	ENSP00000386942:p.Pro520Thr		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.P520T	ENST00000409382.3	37	c.1558	CCDS2073.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.77|12.77	2.038709|2.038709	0.35989|0.35989	.|.	.|.	ENSG00000144057|ENSG00000144057	ENST00000361803|ENST00000361686;ENST00000409382	.|T;T	.|0.14144	.|2.53;2.53	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.212707|0.212707	0.49305|0.49305	D|D	0.000149|0.000149	T|T	0.16981|0.16981	0.0408|0.0408	L|L	0.49699|0.49699	1.58|1.58	0.80722|0.80722	D|D	1|1	.|B	.|0.21606	.|0.058	.|B	.|0.18263	.|0.021	T|T	0.02533|0.02533	-1.1145|-1.1145	6|10	.|0.30854	.|T	.|0.27	-27.8131|-27.8131	19.0512|19.0512	0.93046|0.93046	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|520	.|Q96JF0	.|SIAT2_HUMAN	H|T	85|520	.|ENSP00000355273:P520T;ENSP00000386942:P520T	.|ENSP00000355273:P520T	P|P	-|-	2|1	0|0	ST6GAL2|ST6GAL2	106789598|106789598	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.373000|0.373000	0.29922|0.29922	3.761000|3.761000	0.55242|0.55242	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CCC|CCT	ST6GAL2	-	NULL	ENSG00000144057		0.507	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1		0	50	0	G	NM_032528		107423166	-1			no_errors	ENST00000361686	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	107423166	G	T	107423166	3	4	147	1	0	0	0	0	1	0	0	0	15269	1232	43	3	35	3	ST6GAL2	2	107423166	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1498477	107423166	135776207	49	37404											
RGPD4	285190	genome.wustl.edu	37	chr2	108488029	108488029	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatactggcagagctgccaAgttaatacagagagctgaag	15	7	12	7	0	0	4	0	1	0	3	0	5	0	4	1	1	5	4	1	1	5	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:108488029A>C	ENST00000408999.3	+	20	3646	c.3569A>C	c.(3568-3570)aAg>aCg	p.K1190T	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1190T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1190					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGAGCTGCCAAGTTAATACAG	0.383																																																	0													1	1	1					2																	108488029		187	464	651	SO:0001583	missense	0			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.3569A>C	2.37:g.108488029A>C	ENSP00000386810:p.Lys1190Thr		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.K1190T	ENST00000408999.3	37	c.3569	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	12.41	1.929340	0.34096	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.40756	1.02;1.03	2.33	2.33	0.28932	.	.	.	.	.	T	0.30103	0.0754	L	0.29908	0.895	0.25285	N	0.989407	P	0.52061	0.95	B	0.43052	0.406	T	0.06972	-1.0797	9	0.26408	T	0.33	-24.4961	9.2036	0.37275	1.0:0.0:0.0:0.0	.	1190	Q7Z3J3	RGPD4_HUMAN	T	1190;1190;948	ENSP00000347081:K1190T;ENSP00000386810:K1190T	ENSP00000347081:K1190T	K	+	2	0	RGPD4	107854461	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	5.088000	0.64486	1.072000	0.40860	0.136000	0.15936	AAG	RGPD4	-	NULL	ENSG00000196862		0.383	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	-	0	116	0	A	XM_496581		108488029	1	tier1	-	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	27.91	61	24	SNP	0.986	C	C	108488029	A	C	108488029	3	2	147	1	0	0	0	0	1	0	0	0	13333	72	3	4	3647	4	RGPD4	2	108488029	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	1064863	108488029	134711344	50	37405											
IL1A	3552	genome.wustl.edu	37	chr2	113539200	113539200	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcctctgagtcattggcGatggcctccaggtcatcatc	6	12	9	14	1	4	1	3	1	1	0	7	2	6	1	4	3	0	0	4	3	0	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:113539200G>A	ENST00000263339.3	-	4	455	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	100					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	AGTCATTGGCGATGGCCTCCA	0.438																																																	0													194	182	186					2																	113539200		2203	4300	6503	SO:0001819	synonymous_variant	0			M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"Interleukins and interleukin receptors", "Endogenous ligands"	5991	protein-coding gene	gene with protein product	"preinterleukin 1 alpha", "hematopoietin-1", "pro-interleukin-1-alpha"	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.300C>T	2.37:g.113539200G>A			Q53QF9|Q7RU02	Silent	SNP	pfam_IL-1_propep,pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_alpha,prints_IL-1_alpha/beta,prints_IL-1	p.I100	ENST00000263339.3	37	c.300	CCDS2101.1	2																																																																																			IL1A	-	pfam_IL-1_propep,prints_IL-1_alpha	ENSG00000115008		0.438	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1A	HGNC	protein_coding	OTTHUMT00000254084.1	-	0	122	0	G	NM_000575		113539200	-1	tier1	-	no_errors	ENST00000263339	ensembl	human	known	74_37	silent	30.36	78	34	SNP	0.216	A	A	113539200	G	A	113539200	2	1	147	1	0	0	0	0	0	0	0	1	7677	1048	37	1		1	IL1A	2	113539200	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	5051171	113539200	129660173	51	37406											
CCNT2	905	genome.wustl.edu	37	chr2	135676490	135676490	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagctggagaacacgccGagccgccgctgcggagtgga	10	3	16	12	5	0	1	0	0	0	1	0	6	0	3	3	3	5	2	3	3	2	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:135676490G>T	ENST00000264157.5	+	1	96	c.66G>T	c.(64-66)ccG>ccT	p.P22P	CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Silent_p.P22P|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000413962.1_RNA	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	22					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)		AGAACACGCCGAGCCGCCGCT	0.617																																																	0													42	52	48					2																	135676490		2203	4300	6503	SO:0001819	synonymous_variant	0			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.66G>T	2.37:g.135676490G>T			A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.P22	ENST00000264157.5	37	c.66	CCDS2174.1	2																																																																																			CCNT2	-	pfam_Cyclin_N,superfamily_Cyclin-like	ENSG00000082258		0.617	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	-	0	111	0	G	NM_058241		135676490	1	tier1	-	no_errors	ENST00000264157	ensembl	human	known	74_37	silent	13.33	26	4	SNP	1.000	T	T	135676490	G	T	135676490	2	4	147	1	0	0	0	0	0	0	0	1	2942	1045	37	2		2	CCNT2	2	135676490	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	22137290	135676490	107522883	52	37407											
TTN	7273	genome.wustl.edu	37	chr2	179640730	179640730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaactgaagctttcctGgttcatgtacgtgaaactca	11	13	7	10	1	3	2	3	2	0	0	4	2	4	2	1	1	4	3	1	1	4	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:179640730G>T	ENST00000591111.1	-	28	6085	c.5861C>A	c.(5860-5862)cCa>cAa	p.P1954Q	TTN_ENST00000342175.6_Missense_Mutation_p.P1908Q|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P1908Q|TTN_ENST00000460472.2_Missense_Mutation_p.P1908Q|TTN_ENST00000360870.5_Missense_Mutation_p.P1954Q|TTN_ENST00000589042.1_Missense_Mutation_p.P1954Q|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P1954Q			Q8WZ42	TITIN_HUMAN	titin	12781					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)			AAGCTTTCCTGGTTCATGTAC	0.418																																																	0													169	174	172					2																	179640730		2203	4300	6503	SO:0001583	missense	0			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.5861C>A	2.37:g.179640730G>T	ENSP00000465570:p.Pro1954Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P1954Q	ENST00000591111.1	37	c.5861		2	.	.	.	.	.	.	.	.	.	.	G	11.79	1.745196	0.30955	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62498	0.02;0.25;0.24;0.23;0.38	5.1	5.1	0.69264	Ribonuclease H-like (1);	.	.	.	.	T	0.67373	0.2886	L	0.27053	0.805	0.36721	D	0.881194	P;P;P;P;D	0.55800	0.693;0.693;0.693;0.954;0.973	B;B;P;P;P	0.59546	0.331;0.331;0.49;0.617;0.859	T	0.75744	-0.3210	9	0.87932	D	0	.	18.5142	0.90930	0.0:0.0:1.0:0.0	.	1908;1908;1908;1954;1954	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	1954;1908;1908;1908;1908;1954	ENSP00000343764:P1954Q;ENSP00000434586:P1908Q;ENSP00000340554:P1908Q;ENSP00000352154:P1908Q;ENSP00000354117:P1954Q	ENSP00000340554:P1908Q	P	-	2	0	TTN	179348975	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	6.561000	0.73955	2.385000	0.81259	0.609000	0.83330	CCA	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	54	0	G	NM_133378		179640730	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	179640730	G	T	179640730	3	4	147	1	0	0	0	0	1	0	0	0	16784	1348	47	3	105467	3	TTN	2	179640730	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	43964240	179640730	63558643	53	37408											
HIBCH	26275	genome.wustl.edu	37	chr2	191116968	191116968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatcctgttaatgcaaGgaagtaaccaagttttcctt	12	14	7	8	0	1	1	0	1	1	0	3	2	3	2	3	1	2	4	3	1	6	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:191116968G>T	ENST00000359678.5	-	8	877	c.583C>A	c.(583-585)Ctt>Att	p.L195I	HIBCH_ENST00000392332.3_Missense_Mutation_p.L195I|HIBCH_ENST00000410045.1_5'Flank	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	195				LPRLQGKLGYFLALT -> FATTPRKTWLLPCIN (in Ref. 1; AAC52114). {ECO:0000305}.	branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			GTTAATGCAAGGAAGTAACCA	0.388																																																	0													90	82	84					2																	191116968		2203	4300	6503	SO:0001583	missense	0			U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"3-hydroxyisobutyryl-Coenzyme A hydrolase"			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.583C>A	2.37:g.191116968G>T	ENSP00000352706:p.Leu195Ile		D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.L195I	ENST00000359678.5	37	c.583	CCDS2304.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.111649	0.94339	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.75154	-0.22;-0.91;-0.22	5.25	5.25	0.73442	Crotonase, core (1);	0.000000	0.85682	D	0.000000	D	0.86159	0.5866	M	0.81112	2.525	0.80722	D	1	D;P	0.53745	0.962;0.937	D;P	0.64237	0.923;0.839	D	0.87318	0.2316	10	0.56958	D	0.05	-14.9327	17.8231	0.88656	0.0:0.0:1.0:0.0	.	195;195	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	I	195;195;249	ENSP00000376144:L195I;ENSP00000352706:L195I;ENSP00000387247:L249I	ENSP00000352706:L195I	L	-	1	0	HIBCH	190825213	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.460000	0.83146	0.467000	0.42956	CTT	HIBCH	-	pfam_Crotonase_core_superfam	ENSG00000198130		0.388	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIBCH	HGNC	protein_coding	OTTHUMT00000255933.1	-	0	82	0	G			191116968	-1	tier1	-	no_errors	ENST00000359678	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	191116968	G	T	191116968	3	4	147	1	0	0	0	0	1	0	0	0	7127	1000	35	3	605	3	HIBCH	2	191116968	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	11476238	191116968	52082405	54	37409											
STAT4	6775	genome.wustl.edu	37	chr2	191897819	191897819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgcaggatgtcagcgaatgGcagagcagacaaccggcctt	11	6	13	11	3	1	2	1	0	0	2	2	4	1	3	2	3	3	3	2	3	2	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:191897819G>T	ENST00000392320.2	-	21	2223	c.1909C>A	c.(1909-1911)Cca>Aca	p.P637T	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.P637T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	637	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			TCAGCGAATGGCAGAGCAGAC	0.428																																																	0													108	109	109					2																	191897819		2203	4300	6503	SO:0001583	missense	0				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.1909C>A	2.37:g.191897819G>T	ENSP00000376134:p.Pro637Thr		Q96NZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.P637T	ENST00000392320.2	37	c.1909	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433541	0.62955	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.96104	-3.91;-3.91	5.38	5.38	0.77491	SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.96513	0.8862	L	0.45352	1.415	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	0.94984	0.8128	10	0.25751	T	0.34	-66.0907	19.5036	0.95105	0.0:0.0:1.0:0.0	.	546;637;637	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	T	637	ENSP00000351255:P637T;ENSP00000376134:P637T	ENSP00000351255:P637T	P	-	1	0	STAT4	191606064	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.611000	0.67674	2.672000	0.90937	0.650000	0.86243	CCA	STAT4	-	pfscan_SH2	ENSG00000138378		0.428	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1		0	105	0	G	NM_003151		191897819	-1			no_errors	ENST00000358470	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	191897819	G	T	191897819	3	4	147	1	0	0	0	0	1	0	0	0	15314	1203	42	3	353	3	STAT4	2	191897819	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	780851	191897819	51301554	55	37410											
PLCL1	5334	genome.wustl.edu	37	chr2	198950712	198950712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgcagcctggatatcGgcatgttcccctgcgttctt	5	15	10	11	2	1	0	0	0	1	0	3	1	2	1	3	2	3	5	3	2	1	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:198950712G>T	ENST00000428675.1	+	2	2869	c.2471G>T	c.(2470-2472)cGg>cTg	p.R824L	PLCL1_ENST00000437704.2_Missense_Mutation_p.R726L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	824					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCTGGATATCGGCATGTTCCC	0.453																																																	0													208	183	191					2																	198950712		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2471G>T	2.37:g.198950712G>T	ENSP00000402861:p.Arg824Leu		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R824L	ENST00000428675.1	37	c.2471	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977884	0.74360	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.15256	2.44;2.44	5.5	5.5	0.81552	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.099179	0.43416	D	0.000565	T	0.47655	0.1457	M	0.83603	2.65	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.42531	-0.9446	9	.	.	.	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	824;750	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	824;726	ENSP00000402861:R824L;ENSP00000414138:R726L	.	R	+	2	0	PLCL1	198658957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.643000	0.98464	2.861000	0.98227	0.655000	0.94253	CGG	PLCL1	-	superfamily_C2_dom,smart_C2_dom,prints_Pinositol_PLipase_C	ENSG00000115896		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1		0	78	0	G	NM_006226		198950712	1			no_errors	ENST00000428675	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	198950712	G	T	198950712	3	4	147	1	0	0	0	0	1	0	0	0	12078	1116	39	2	2477	2	PLCL1	2	198950712	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	7052893	198950712	44248661	56	37411											
ABI2	10152	genome.wustl.edu	37	chr2	204259464	204259464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagccagtgcgtcctcCagtggtaccaaatgattacg	10	9	11	11	2	0	1	0	1	0	0	2	2	2	2	4	2	4	1	4	2	3	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:204259464C>A	ENST00000422511.2	+	6	651	c.620C>A	c.(619-621)cCa>cAa	p.P207Q	ABI2_ENST00000261016.6_Missense_Mutation_p.P156Q|ABI2_ENST00000261018.7_Intron|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.P201Q|ABI2_ENST00000295851.5_Missense_Mutation_p.P207Q|ABI2_ENST00000261017.5_Missense_Mutation_p.P201Q|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Intron			Q9NYB9	ABI2_HUMAN	abl-interactor 2	207	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						GTGCGTCCTCCAGTGGTACCA	0.483																																																	0													149	134	139					2																	204259464		2203	4300	6503	SO:0001583	missense	0			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.620C>A	2.37:g.204259464C>A	ENSP00000396249:p.Pro207Gln		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.P207Q	ENST00000422511.2	37	c.620		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.148356|5.148356	0.94603|0.94603	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511|ENST00000451591;ENST00000454023	D;D;D;D;D;D|.	0.94828|.	-3.53;-3.53;-3.53;-3.53;-3.53;-3.53|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78355|0.78355	0.4270|0.4270	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	P;D;D;P;D;D|.	0.89917|.	0.952;1.0;0.999;0.928;0.999;1.0|.	P;D;D;P;D;D|.	0.97110|.	0.521;0.999;0.996;0.79;0.994;1.0|.	T|T	0.75637|0.75637	-0.3249|-0.3249	10|5	0.87932|.	D|.	0|.	-8.1289|-8.1289	20.6013|20.6013	0.99457|0.99457	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	42;145;201;156;207;201|.	B7Z612;B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2|.	.;.;.;.;ABI2_HUMAN;.|.	Q|K	207;201;201;156;207;207|73;48	ENSP00000295851:P207Q;ENSP00000261017:P201Q;ENSP00000391433:P201Q;ENSP00000261016:P156Q;ENSP00000414703:P207Q;ENSP00000396249:P207Q|.	ENSP00000261016:P156Q|.	P|Q	+|+	2|1	0|0	ABI2|ABI2	203967709|203967709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.625000|7.625000	0.83145|0.83145	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	CCA|CAG	ABI2	-	NULL	ENSG00000138443		0.483	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	ABI2	HGNC	protein_coding	OTTHUMT00000336179.2	-	0	60	0	C	NM_005759		204259464	1	tier1	-	no_errors	ENST00000295851	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	204259464	C	A	204259464	3	1	147	1	0	0	0	0	1	0	0	0	89	594	21	3	620	3	ABI2	2	204259464	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	5308752	204259464	38939909	57	37412											
SLC19A3	80704	genome.wustl.edu	37	chr2	228552908	228552908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgactggcaagttgagccCtctctgatctactacaatca	10	11	8	12	0	3	3	1	3	2	0	4	3	3	3	1	1	3	3	1	1	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:228552908C>A	ENST00000258403.3	-	5	1359	c.1288G>T	c.(1288-1290)Ggg>Tgg	p.G430W	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G426W	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	430					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)	AAGTTGAGCCCTCTCTGATCT	0.388																																																	0													158	140	146					2																	228552908		2203	4300	6503	SO:0001583	missense	0			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.1288G>T	2.37:g.228552908C>A	ENSP00000258403:p.Gly430Trp			Missense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.G430W	ENST00000258403.3	37	c.1288	CCDS2468.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025185	0.75390	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	D;D	0.87334	-2.24;-2.24	5.44	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93403	0.7896	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94282	0.7521	10	0.87932	D	0	-8.8152	14.0607	0.64797	0.0:0.9283:0.0:0.0717	.	426;430	F5H2M8;Q9BZV2	.;S19A3_HUMAN	W	430;426	ENSP00000258403:G430W;ENSP00000445519:G426W	ENSP00000258403:G430W	G	-	1	0	SLC19A3	228261152	0.787000	0.28750	0.886000	0.34754	0.885000	0.51271	3.253000	0.51469	1.525000	0.49052	0.650000	0.86243	GGG	SLC19A3	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000135917		0.388	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	-	0	27	0	C			228552908	-1	tier1	-	no_errors	ENST00000258403	ensembl	human	known	74_37	missense	22.58	24	7	SNP	1.000	A	A	228552908	C	A	228552908	3	1	147	1	0	0	0	0	1	0	0	0	14475	681	24	3	210	3	SLC19A3	2	228552908	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	24293444	228552908	14646465	58	37413											
ALPI	248	genome.wustl.edu	37	chr2	233322334	233322334	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggaccccagaccctgagtaCccagctgatgccagccagaa	11	4	11	15	0	0	4	0	2	0	2	0	5	0	5	6	1	4	2	6	1	2	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:233322334C>T	ENST00000295463.3	+	6	785	c.708C>T	c.(706-708)taC>taT	p.Y236Y		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	236					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACCCTGAGTACCCAGCTGATG	0.612																																																	0													64	65	65					2																	233322334		2203	4300	6503	SO:0001819	synonymous_variant	0			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.708C>T	2.37:g.233322334C>T			B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.Y236	ENST00000295463.3	37	c.708	CCDS2492.1	2																																																																																			ALPI	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163295		0.612	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPI	HGNC	protein_coding	OTTHUMT00000257035.2	-	0	157	0	C	NM_001631		233322334	1	tier1	-	no_errors	ENST00000295463	ensembl	human	known	74_37	silent	35.00	52	28	SNP	0.988	T	T	233322334	C	T	233322334	2	4	147	1	0	0	0	0	0	0	0	1	543	518	18	3		3	ALPI	2	233322334	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	4769426	233322334	9877039	59	37414											
INPP5D	3635	genome.wustl.edu	37	chr2	234094525	234094525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaggagaaaatgaagaagGaagtgagggggagctggtgg	15	4	21	1	0	0	4	0	2	0	2	0	8	0	7	0	7	1	1	0	7	6	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:234094525G>T	ENST00000359570.5	+	23	2276	c.2276G>T	c.(2275-2277)gGa>gTa	p.G759V	INPP5D_ENST00000455936.2_Missense_Mutation_p.G523V|INPP5D_ENST00000450745.1_Missense_Mutation_p.G523V			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	771					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AATGAAGAAGGAAGTGAGGGG	0.463																																					NSCLC(82;1215 1426 16163 20348 41018)												0													86	92	90					2																	234094525		1914	4121	6035	SO:0001583	missense	0			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2276G>T	2.37:g.234094525G>T	ENSP00000352575:p.Gly759Val		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.G759V	ENST00000359570.5	37	c.2276		2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338004	0.81911	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96459	-3.96;-4.01;-4.01;-4.02;-4.02;-4.02	5.34	5.34	0.76211	.	0.398136	0.28549	N	0.014954	D	0.97898	0.9309	.	.	.	0.80722	D	1	D;D	0.62365	0.991;0.985	P;P	0.61201	0.885;0.771	D	0.98400	1.0567	9	0.62326	D	0.03	.	19.1318	0.93410	0.0:0.0:1.0:0.0	.	770;771	Q92835-2;Q92835	.;SHIP1_HUMAN	V	759;523;523;392;392;392	ENSP00000352575:G759V;ENSP00000407916:G523V;ENSP00000404610:G523V;ENSP00000400151:G392V;ENSP00000397421:G392V;ENSP00000405338:G392V	ENSP00000352575:G759V	G	+	2	0	INPP5D	233759264	1.000000	0.71417	0.927000	0.36925	0.989000	0.77384	5.081000	0.64444	2.510000	0.84645	0.650000	0.86243	GGA	INPP5D	-	NULL	ENSG00000168918		0.463	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		-	0	101	0	G	NM_001017915		234094525	1	tier1	-	no_errors	ENST00000359570	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.996	T	T	234094525	G	T	234094525	3	4	147	1	0	0	0	0	1	0	0	0	7783	1174	41	3	1902	3	INPP5D	2	234094525	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	772191	234094525	9104848	60	37415											
UGT1A1	54658	genome.wustl.edu	37	chr2	234669545	234669545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcattcagatcacatGaccttcctgcagcgggtgaa	9	11	8	13	1	3	3	3	2	1	1	6	3	5	3	3	1	2	1	3	1	1	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:234669545G>T	ENST00000608383.1	+	1	612	c.612G>T	c.(610-612)atG>atT	p.M204I	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.M204I|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.M204I|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	204					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)	CAGATCACATGACCTTCCTGC	0.527																																																	0													179	171	174					2																	234669545		2203	4300	6503	SO:0001583	missense	0			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.612G>T	2.37:g.234669545G>T	ENSP00000476741:p.Met204Ile		A6NJC3|B8K286	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.M204I	ENST00000608383.1	37	c.612	CCDS2510.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.463986	0.96257	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.62232	0.04;0.04	6.03	6.03	0.97812	.	.	.	.	.	D	0.87692	0.6241	H	0.97540	4.025	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.984	D	0.90952	0.4806	9	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	204;204	A6NJC3;P22309	.;UD11_HUMAN	I	204	ENSP00000304845:M204I;ENSP00000353593:M204I	ENSP00000304845:M204I	M	+	3	0	UGT1A1	234334284	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.819000	0.99357	2.861000	0.98227	0.655000	0.94253	ATG	UGT1A8	-	pfam_UDP_glucos_trans	ENSG00000242366		0.527	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	UGT1A8	HGNC	protein_coding		-	0	86	0	G			234669545	1	tier1	-	no_errors	ENST00000305208	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	234669545	G	T	234669545	3	4	147	1	0	0	0	0	1	0	0	0	16993	1290	45	3	614	3	UGT1A1	2	234669545	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	575020	234669545	8529828	61	37416											
HRH1	3269	genome.wustl.edu	37	chr3	11301579	11301579	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccccaaggagatgaaatccCcagttgtcttcagccaagag	12	7	9	13	0	2	3	1	1	1	2	3	4	3	3	5	1	1	1	5	1	3	2	rs373661540		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:11301579C>A	ENST00000397056.1	+	3	1047	c.856C>A	c.(856-858)Cca>Aca	p.P286T	HRH1_ENST00000438284.2_Missense_Mutation_p.P286T|HRH1_ENST00000431010.2_Missense_Mutation_p.P286T	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	286					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GATGAAATCCCCAGTTGTCTT	0.502																																																	0													60	66	64					3																	11301579		2203	4300	6503	SO:0001583	missense	0				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.856C>A	3.37:g.11301579C>A	ENSP00000380247:p.Pro286Thr		A8K047|Q6P9E5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt	p.P286T	ENST00000397056.1	37	c.856	CCDS2604.1	3	.	.	.	.	.	.	.	.	.	.	C	4.216	0.038902	0.08148	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.65916	-0.18;-0.18;-0.18	6.07	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.156075	0.41097	D	0.000950	T	0.58352	0.2116	M	0.70275	2.135	0.09310	N	1	B	0.31503	0.326	B	0.35182	0.197	T	0.47262	-0.9131	10	0.10636	T	0.68	-5.7995	11.9877	0.53157	0.0:0.6104:0.3227:0.0669	.	286	P35367	HRH1_HUMAN	T	286	ENSP00000406705:P286T;ENSP00000397028:P286T;ENSP00000380247:P286T	ENSP00000380247:P286T	P	+	1	0	HRH1	11276579	0.000000	0.05858	0.008000	0.14137	0.168000	0.22595	0.235000	0.17948	0.874000	0.35823	0.650000	0.86243	CCA	HRH1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196639		0.502	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH1	HGNC	protein_coding	OTTHUMT00000251928.2		0	70	0	C			11301579	1			no_errors	ENST00000397056	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.001	A	A	11301579	C	A	11301579	3	1	147	1	0	0	0	0	1	0	0	0	7382	623	22	3	858	3	HRH1	3	11301579	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09		11301579	186720851	62	37417											
XYLB	9942	genome.wustl.edu	37	chr3	38437043	38437043	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcatctcacaatagaGaaatcttacaggtaagcgtt	15	9	10	7	1	2	1	1	0	2	1	3	4	2	2	0	2	3	3	0	2	5	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:38437043G>T	ENST00000207870.3	+	16	1429	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	XYLB_ENST00000472721.1_3'UTR|XYLB_ENST00000542835.1_Nonsense_Mutation_p.E310*	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	447					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)		TCACAATAGAGAAATCTTACA	0.458																																																	0													113	106	108					3																	38437043		2203	4300	6503	SO:0001587	stop_gained	0			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.1339G>T	3.37:g.38437043G>T	ENSP00000207870:p.Glu447*		B2RAW4|B4DDT2|B9EH64	Nonsense_Mutation	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N	p.E447*	ENST00000207870.3	37	c.1339	CCDS2678.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.738708	0.97801	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	.	.	.	4.86	4.86	0.63082	.	0.187921	0.43747	D	0.000531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	13.356	0.60627	0.0:0.0:1.0:0.0	.	.	.	.	X	447;310	.	ENSP00000207870:E447X	E	+	1	0	XYLB	38412047	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	3.596000	0.54024	2.528000	0.85240	0.561000	0.74099	GAA	XYLB	-	pfam_Carb_kinase_FGGY_C	ENSG00000093217		0.458	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLB	HGNC	protein_coding	OTTHUMT00000254062.2	-	0	61	0	G	NM_005108		38437043	1	tier1	-	no_errors	ENST00000207870	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	1.000	T	T	38437043	G	T	38437043	4	4	147	1	0	0	0	0	0	1	0	0	17511	943	33	3	1401	3	XYLB	3	38437043	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	27135464	38437043	159585387	63	37418											
CCDC13	152206	genome.wustl.edu	37	chr3	42777276	42777277	+	Frame_Shift_Del	DEL	GG	GG	-																															agctaccatggcctgcagctGggcgactaggctgttgctcc																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:42777276_42777277delGG	ENST00000310232.6	-	10	1376_1377	c.1293_1294delCC	c.(1291-1296)gcccagfs	p.Q432fs	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	432										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCCTGCAGCTGGGCGACTAGGC	0.614																																																	0																																										SO:0001589	frameshift_variant	0			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.1293_1294delCC	3.37:g.42777276_42777277delGG	ENSP00000309836:p.Gln432fs			Frame_Shift_Del	DEL	superfamily_Prefoldin	p.Q432fs	ENST00000310232.6	37	c.1294_1293	CCDS2705.1	3																																																																																			CCDC13	-	NULL	ENSG00000244607		0.614	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1		0	48	0	GG	NM_144719		42777277	-1	tier1		no_errors	ENST00000310232	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000:0.981	-	-	42777277	GG	-	42777276	7	5	147	1	0	1	0	1	0	0	0	0	2772	1357	47	0	881	0	CCDC13	3	42777276	Frame_Shift_Del	DEL	GG	TCGA-R6-A6Y2-01B-11D-A33E-09	4340233	42777276	155245154	64	37419											
SETD2	29072	genome.wustl.edu	37	chr3	47163875	47163875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggtgtggtgacaccagagGttctgtttctctaaatgggc	7	14	13	7	0	2	2	0	1	2	1	3	2	2	2	1	4	0	2	1	4	2	4	rs115788094	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:47163875G>T	ENST00000409792.3	-	3	2293	c.2251C>A	c.(2251-2253)Cct>Act	p.P751T		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	751					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)		GACACCAGAGGTTCTGTTTCT	0.388			"N, F, S, Mis"		clear cell renal carcinoma								G|||	10	0.00199681	0.0076	0	5008	,	,		20596	0		0	False		,,,				2504	0							Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0								G	THR/PRO	5,4399	9.9+/-24.2	0,5,2197	158	156	157		2251	4.3	1	3	dbSNP_132	157	0,8600		0,0,4300	yes	missense	SETD2	NM_014159.6	38	0,5,6497	TT,TG,GG		0.0,0.1135,0.0384	benign	751/2565	47163875	5,12999	2202	4300	6502	SO:0001583	missense	0			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.2251C>A	3.37:g.47163875G>T	ENSP00000386759:p.Pro751Thr		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.P751T	ENST00000409792.3	37	c.2251	CCDS2749.2	3	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	14.29	2.490635	0.44249	0.001135	0.0	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.88046	-2.33;1.52	5.18	4.3	0.51218	.	0.348283	0.24886	N	0.034804	T	0.69333	0.3099	N	0.19112	0.55	0.29325	N	0.867114	B;B	0.28713	0.22;0.22	B;B	0.22386	0.039;0.024	T	0.69975	-0.4999	10	0.72032	D	0.01	.	7.6969	0.28600	0.0894:0.2156:0.6951:0.0	.	751;751	F2Z317;Q9BYW2	.;SETD2_HUMAN	T	751;751;751;707	ENSP00000386759:P751T;ENSP00000416401:P707T	ENSP00000386759:P751T	P	-	1	0	SETD2	47138879	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	2.237000	0.43061	1.403000	0.46800	0.655000	0.94253	CCT	SETD2	-	NULL	ENSG00000181555		0.388	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2		0	58	0	G	NM_014159		47163875	-1			no_errors	ENST00000409792	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.983	T	T	47163875	G	T	47163875	3	4	147	1	0	0	0	0	1	0	0	0	14176	1261	44	3	5519	3	SETD2	3	47163875	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	4386599	47163875	150858555	65	37420											
IMPDH2	54870	genome.wustl.edu	37	chr3	49065323	49065323	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggggctgaggaccacaggGtctgtgatgaatccctgttc	7	11	14	9	0	1	3	0	3	1	0	3	4	2	4	2	4	0	2	2	4	1	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:49065323G>T	ENST00000395443.2	-	0	3549				IMPDH2_ENST00000326739.4_Missense_Mutation_p.D117E|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)		GGACCACAGGGTCTGTGATGA	0.532																																																	0													56	51	53					3																	49065323		2203	4300	6503	SO:0001628	intergenic_variant	0				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.49065323G>T			Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_CBS_dom,pirsf_IMP_DH,tigrfam_IMP_DH	p.D117E	ENST00000395443.2	37	c.351	CCDS2787.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.369003|4.369003	0.82463|0.82463	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000537036;ENST00000326739;ENST00000442157|ENST00000429182	D;D|.	0.93712|.	-3.27;-3.27|.	6.08|6.08	3.34|3.34	0.38264|0.38264	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);|.	0.040031|.	0.85682|.	D|.	0.000000|.	T|T	0.65749|0.65749	0.2721|0.2721	M|M	0.76170|0.76170	2.325|2.325	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.41978|.	0.767|.	P|.	0.53649|.	0.731|.	T|T	0.64076|0.64076	-0.6492|-0.6492	10|5	0.66056|.	D|.	0.02|.	-30.2655|-30.2655	8.9107|8.9107	0.35552|0.35552	0.2767:0.0:0.7233:0.0|0.2767:0.0:0.7233:0.0	.|.	117|.	P12268|.	IMDH2_HUMAN|.	E|T	117;117;92|49	ENSP00000321584:D117E;ENSP00000403502:D92E|.	ENSP00000321584:D117E|.	D|P	-|-	3|1	2|0	IMPDH2|IMPDH2	49040327|49040327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.804000|1.804000	0.38873|0.38873	0.908000|0.908000	0.36671|0.36671	-0.140000|-0.140000	0.14226|0.14226	GAC|CCC	IMPDH2	-	pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,smart_CBS_dom,pirsf_IMP_DH,tigrfam_IMP_DH	ENSG00000178035		0.532	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPDH2	HGNC	protein_coding	OTTHUMT00000345669.1	-	0	81	0	G	NM_017730		49065323	-1	tier1	-	no_errors	ENST00000326739	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	49065323	G	T	49065323	1	4	147	0	1	0	0	0	0	0	0	0	7754	1252	44	3		3	IMPDH2	3	49065323	IGR	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1901448	49065323	148957107	66	37421											
BSN	8927	genome.wustl.edu	37	chr3	49694709	49694709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctagagtctgggactgagCcctgtgtggtcaggaggatt	8	10	16	7	0	2	2	1	1	1	1	2	5	2	5	1	4	2	1	1	4	1	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:49694709C>A	ENST00000296452.4	+	5	7834	c.7720C>A	c.(7720-7722)Ccc>Acc	p.P2574T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2574					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)		TGGGACTGAGCCCTGTGTGGT	0.647																																																	0													54	54	54					3																	49694709		2203	4300	6503	SO:0001583	missense	0			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.7720C>A	3.37:g.49694709C>A	ENSP00000296452:p.Pro2574Thr		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.P2574T	ENST00000296452.4	37	c.7720	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	3.756	-0.050644	0.07407	.	.	ENSG00000164061	ENST00000296452	T	0.19669	2.13	5.82	5.82	0.92795	.	0.141960	0.48286	D	0.000189	T	0.30854	0.0778	M	0.62723	1.935	0.38302	D	0.942998	P	0.52842	0.956	B	0.44224	0.444	T	0.17501	-1.0367	10	0.72032	D	0.01	-17.9466	19.7034	0.96065	0.0:1.0:0.0:0.0	.	2574	Q9UPA5	BSN_HUMAN	T	2574	ENSP00000296452:P2574T	ENSP00000296452:P2574T	P	+	1	0	BSN	49669713	0.680000	0.27605	0.972000	0.41901	0.192000	0.23643	1.231000	0.32624	2.756000	0.94617	0.561000	0.74099	CCC	BSN	-	NULL	ENSG00000164061		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1		0	142	0	C	NM_003458		49694709	1			no_errors	ENST00000296452	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.992	A	A	49694709	C	A	49694709	3	1	147	1	0	0	0	0	1	0	0	0	1534	739	26	3	7738	3	BSN	3	49694709	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	629386	49694709	148327721	67	37422											
MST1R	4486	genome.wustl.edu	37	chr3	49932735	49932735	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtggcacacaggattCatcttcactatcggagaagg	12	8	11	10	1	3	1	2	0	1	1	4	3	3	2	0	4	1	2	0	4	2	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:49932735C>A	ENST00000296474.3	-	14	3163	c.3136G>T	c.(3136-3138)Gaa>Taa	p.E1046*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.E997*	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1046					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)		ACACAGGATTCATCTTCACTA	0.547																																																	0													136	131	133					3																	49932735		2203	4300	6503	SO:0001587	stop_gained	0			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.3136G>T	3.37:g.49932735C>A	ENSP00000296474:p.Glu1046*		B5A944|B5A945|B5A946|B5A947	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.E1046*	ENST00000296474.3	37	c.3136	CCDS2807.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.051432|6.051432	0.97236|0.97236	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000296474;ENST00000344206|ENST00000440292	.|.	.|.	.|.	5.84|5.84	4.96|4.96	0.65561|0.65561	.|.	0.524568|.	0.23908|.	N|.	0.043371|.	.|T	.|0.69780	.|0.3149	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78949	.|-0.2002	.|4	0.27785|0.87932	T|D	0.31|0	-7.5372|-7.5372	13.9005|13.9005	0.63799|0.63799	0.0:0.927:0.0:0.073|0.0:0.927:0.0:0.073	.|.	.|.	.|.	.|.	X|I	1046;997|66	.|.	ENSP00000296474:E1046X|ENSP00000407926:M1019I	E|M	-|-	1|3	0|0	MST1R|MST1R	49907739|49907739	0.008000|0.008000	0.16893|0.16893	0.019000|0.019000	0.16419|0.16419	0.019000|0.019000	0.09904|0.09904	2.275000|2.275000	0.43399|0.43399	1.468000|1.468000	0.48064|0.48064	0.561000|0.561000	0.74099|0.74099	GAA|ATG	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt	ENSG00000164078		0.547	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	-	0	93	0	C			49932735	-1	tier1	-	no_errors	ENST00000296474	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	0.060	A	A	49932735	C	A	49932735	4	1	147	1	0	0	0	0	0	1	0	0	9929	835	29	3	1094	3	MST1R	3	49932735	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	238026	49932735	148089695	68	37423											
SEMA3G	56920	genome.wustl.edu	37	chr3	52476595	52476595	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaggatctcttccctttcGaacacactcctccctctgtc	8	12	4	17	1	2	0	0	0	2	0	8	2	5	1	3	1	1	0	3	1	2	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:52476595G>A	ENST00000231721.2	-	3	318	c.319C>T	c.(319-321)Cga>Tga	p.R107*		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	107	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CTTCCCTTTCGAACACACTCC	0.637																																																	0													192	154	167					3																	52476595		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.319C>T	3.37:g.52476595G>A	ENSP00000231721:p.Arg107*		Q7L9D9|Q9H7Q3	Nonsense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.R107*	ENST00000231721.2	37	c.319	CCDS2856.1	3	.	.	.	.	.	.	.	.	.	.	G	7.079	0.569772	0.13560	.	.	ENSG00000010319	ENST00000231721;ENST00000475739	.	.	.	4.35	2.52	0.30459	.	0.626629	0.16528	N	0.210484	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	8.5807	0.33626	0.0843:0.1529:0.7629:0.0	.	.	.	.	X	107;125	.	ENSP00000231721:R107X	R	-	1	2	SEMA3G	52451635	0.000000	0.05858	0.041000	0.18516	0.011000	0.07611	0.698000	0.25571	0.533000	0.28675	0.561000	0.74099	CGA	SEMA3G	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000010319		0.637	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1		0	57	0	G	NM_020163		52476595	-1			no_errors	ENST00000231721	ensembl	human	known	74_37	nonsense	12.00	22	3	SNP	0.001	A	A	52476595	G	A	52476595	4	1	147	1	0	0	0	0	0	1	0	0	14075	1066	37	1	2085	1	SEMA3G	3	52476595	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2543860	52476595	145545835	69	37424											
NIT2	56954	genome.wustl.edu	37	chr3	100074045	100074045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagctggctgaaatacGccagcaaatccccgttttta	13	9	9	10	2	0	2	0	1	0	1	1	3	1	2	3	1	3	4	3	1	6	4	rs373969032		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:100074045G>T	ENST00000394140.4	+	10	855	c.764G>T	c.(763-765)cGc>cTc	p.R255L		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	255	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)	p.R255H(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						GCTGAAATACGCCAGCAAATC	0.423																																																	1	Substitution - Missense(1)	large_intestine(1)											77	75	75					3																	100074045		2203	4300	6503	SO:0001583	missense	0			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.764G>T	3.37:g.100074045G>T	ENSP00000377696:p.Arg255Leu		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.R255L	ENST00000394140.4	37	c.764	CCDS33806.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.313033	0.95655	.	.	ENSG00000114021	ENST00000394140	T	0.75938	-0.98	5.78	5.78	0.91487	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.050778	0.85682	D	0.000000	D	0.92831	0.7720	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95373	0.8466	10	0.87932	D	0	-4.9614	20.0118	0.97458	0.0:0.0:1.0:0.0	.	255	Q9NQR4	NIT2_HUMAN	L	255	ENSP00000377696:R255L	ENSP00000377696:R255L	R	+	2	0	NIT2	101556735	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.587000	0.90810	2.733000	0.93635	0.591000	0.81541	CGC	NIT2	-	superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	ENSG00000114021		0.423	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT2	HGNC	protein_coding	OTTHUMT00000353142.2	-	0	80	0	G	NM_020202		100074045	1	tier1	-	no_errors	ENST00000394140	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	100074045	G	T	100074045	3	4	147	1	0	0	0	0	1	0	0	0	10473	1087	38	2	802	2	NIT2	3	100074045	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	47597450	100074045	97948385	70	37425											
KIAA2018	205717	genome.wustl.edu	37	chr3	113374665	113374665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccatttccatgagacacaGatggatgtggcaacgctggc	10	8	12	11	2	0	2	0	1	0	2	1	4	1	3	2	3	1	2	2	3	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:113374665G>T	ENST00000478658.1	-	5	5881	c.5864C>A	c.(5863-5865)tCt>tAt	p.S1955Y	KIAA2018_ENST00000316407.4_Missense_Mutation_p.S1955Y|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1955						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S1955Y(1)		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						ATGAGACACAGATGGATGTGG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											94	91	92					3																	113374665		2146	4252	6398	SO:0001583	missense	0			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.5864C>A	3.37:g.113374665G>T	ENSP00000420721:p.Ser1955Tyr		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S1955Y	ENST00000478658.1	37	c.5864	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	g	15.30	2.793730	0.50102	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.16743	2.32;2.32	5.56	5.56	0.83823	.	0.354630	0.29529	N	0.011895	T	0.20007	0.0481	N	0.24115	0.695	0.49213	D	0.999766	D	0.56521	0.976	P	0.47744	0.556	T	0.00888	-1.1526	10	0.62326	D	0.03	-4.7613	19.8795	0.96891	0.0:0.0:1.0:0.0	.	1955	Q68DE3	K2018_HUMAN	Y	1955	ENSP00000320794:S1955Y;ENSP00000420721:S1955Y	ENSP00000320794:S1955Y	S	-	2	0	KIAA2018	114857355	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.150000	0.77403	2.775000	0.95449	0.558000	0.71614	TCT	KIAA2018	-	NULL	ENSG00000176542		0.537	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0	67	0	G	NM_001009899		113374665	-1			no_errors	ENST00000316407	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.989	T	T	113374665	G	T	113374665	3	4	147	1	0	0	0	0	1	0	0	0	8295	942	33	3	877	3	KIAA2018	3	113374665	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	13300620	113374665	84647765	71	37426											
KIAA2018	205717	genome.wustl.edu	37	chr3	113376052	113376052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcatgaggtacatgatGctgcatttgatataagtgat	11	14	10	6	0	1	4	0	4	1	0	1	4	1	4	0	1	4	4	0	1	3	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:113376052G>T	ENST00000478658.1	-	5	4494	c.4477C>A	c.(4477-4479)Cat>Aat	p.H1493N	KIAA2018_ENST00000316407.4_Missense_Mutation_p.H1493N|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1493	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						GGTACATGATGCTGCATTTGA	0.493																																																	0													164	171	169					3																	113376052		2179	4279	6458	SO:0001583	missense	0			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.4477C>A	3.37:g.113376052G>T	ENSP00000420721:p.His1493Asn		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.H1493N	ENST00000478658.1	37	c.4477	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405443	0.62288	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.32272	1.46;1.46	5.89	5.89	0.94794	.	0.104565	0.64402	D	0.000004	T	0.27832	0.0685	L	0.34521	1.04	0.52501	D	0.999959	B	0.32245	0.361	B	0.29440	0.102	T	0.02064	-1.1220	10	0.35671	T	0.21	-5.9585	20.2566	0.98424	0.0:0.0:1.0:0.0	.	1493	Q68DE3	K2018_HUMAN	N	1493	ENSP00000320794:H1493N;ENSP00000420721:H1493N	ENSP00000320794:H1493N	H	-	1	0	KIAA2018	114858742	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.325000	0.96381	2.793000	0.96121	0.561000	0.74099	CAT	KIAA2018	-	NULL	ENSG00000176542		0.493	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0	59	0	G	NM_001009899		113376052	-1			no_errors	ENST00000316407	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	113376052	G	T	113376052	3	4	147	1	0	0	0	0	1	0	0	0	8295	1319	46	3	2264	3	KIAA2018	3	113376052	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1387	113376052	84646378	72	37427											
IGSF11	152404	genome.wustl.edu	37	chr3	118649028	118649028	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggttaatgagggcagcGctggtagtgaaagtgcaggg	10	9	18	4	1	0	3	0	3	0	0	0	3	0	3	0	4	2	5	0	4	3	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:118649028G>A	ENST00000393775.2	-	2	452	c.147C>T	c.(145-147)agC>agT	p.S49S	IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000425327.2_Silent_p.S48S|IGSF11_ENST00000354673.2_Silent_p.S48S|IGSF11_ENST00000489689.1_Silent_p.S49S|IGSF11_ENST00000441144.2_Silent_p.S48S|IGSF11_ENST00000491903.1_Silent_p.S49S	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	49	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGGGCAGCGCTGGTAGTGA	0.542																																																	0													137	127	130					3																	118649028		2203	4300	6503	SO:0001819	synonymous_variant	0			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.147C>T	3.37:g.118649028G>A			C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S49	ENST00000393775.2	37	c.147	CCDS46891.1	3																																																																																			IGSF11	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000144847		0.542	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355075.2	-	0	84	0	G			118649028	-1	tier1	-	no_errors	ENST00000393775	ensembl	human	known	74_37	silent	15.56	38	7	SNP	0.360	A	A	118649028	G	A	118649028	2	1	147	1	0	0	0	0	0	0	0	1	7625	1078	38	1		1	IGSF11	3	118649028	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	5272976	118649028	79373402	73	37428											
KALRN	8997	genome.wustl.edu	37	chr3	124165720	124165720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagaatatggggaattcagGgtgcctgccaaggtaggaaa	15	7	14	5	0	1	1	1	0	0	1	1	3	1	3	2	5	2	1	2	5	7	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:124165720G>T	ENST00000240874.3	+	21	3691	c.3534G>T	c.(3532-3534)agG>agT	p.R1178S	KALRN_ENST00000460856.1_Missense_Mutation_p.R1169S|KALRN_ENST00000360013.3_Missense_Mutation_p.R1178S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1178					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						GGGAATTCAGGGTGCCTGCCA	0.493																																																	0													96	99	98					3																	124165720		2203	4300	6503	SO:0001583	missense	0			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.3534G>T	3.37:g.124165720G>T	ENSP00000240874:p.Arg1178Ser		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R1178S	ENST00000240874.3	37	c.3534	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.52|14.52	2.560214|2.560214	0.45590|0.45590	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.41065	.|1.01;1.01;1.01	5.37|5.37	4.5|4.5	0.54988|0.54988	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32010|0.32010	0.0815|0.0815	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.30727	.|0.263;0.263;0.292;0.222	.|B;B;B;B	.|0.36766	.|0.232;0.232;0.22;0.149	T|T	0.08722|0.08722	-1.0708|-1.0708	5|10	.|0.20046	.|T	.|0.44	.|.	8.6022|8.6022	0.33751|0.33751	0.2132:0.0:0.7868:0.0|0.2132:0.0:0.7868:0.0	.|.	.|1169;524;1178;1178	.|C9IZQ6;F2Z3Q6;O60229;O60229-2	.|.;.;KALRN_HUMAN;.	V|S	1147|1169;1178;1178	.|ENSP00000418611:R1169S;ENSP00000240874:R1178S;ENSP00000353109:R1178S	.|ENSP00000240874:R1178S	G|R	+|+	2|3	0|2	KALRN|KALRN	125648410|125648410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.423000|2.423000	0.44705|0.44705	1.489000|1.489000	0.48450|0.48450	0.643000|0.643000	0.83706|0.83706	GGG|AGG	KALRN	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160145		0.493	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	-	0	83	0	G	NM_003947		124165720	1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	124165720	G	T	124165720	3	4	147	1	0	0	0	0	1	0	0	0	8002	1223	43	3	3616	3	KALRN	3	124165720	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	5516692	124165720	73856710	74	37429											
DZIP1L	199221	genome.wustl.edu	37	chr3	137781729	137781729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgggagctttgagcGagacaagggcttgggtttct	6	13	14	8	1	2	2	0	1	2	1	3	4	2	3	0	3	2	3	0	3	1	4	rs146029706	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:137781729G>T	ENST00000327532.2	-	16	2595	c.2233C>A	c.(2233-2235)Cgc>Agc	p.R745S		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	745					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						AGCTTTGAGCGAGACAAGGGC	0.567																																																	0													86	87	86					3																	137781729		2203	4300	6503	SO:0001583	missense	0			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.2233C>A	3.37:g.137781729G>T	ENSP00000332148:p.Arg745Ser		C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.R745S	ENST00000327532.2	37	c.2233	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	G	3.795	-0.042844	0.07452	.	.	ENSG00000158163	ENST00000327532	T	0.10192	2.9	4.7	0.63	0.17693	.	1.145360	0.06696	N	0.770528	T	0.07818	0.0196	L	0.29908	0.895	0.09310	N	1	B	0.34372	0.451	B	0.32090	0.14	T	0.36866	-0.9730	10	0.49607	T	0.09	-0.568	4.1174	0.10088	0.2771:0.0:0.5638:0.1591	.	745	Q8IYY4	DZI1L_HUMAN	S	745	ENSP00000332148:R745S	ENSP00000332148:R745S	R	-	1	0	DZIP1L	139264419	0.011000	0.17503	0.002000	0.10522	0.125000	0.20455	0.205000	0.17356	0.074000	0.16767	-0.222000	0.12452	CGC	DZIP1L	-	NULL	ENSG00000158163		0.567	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	-	0	56	0	G	NM_173543		137781729	-1	tier1	-	no_errors	ENST00000327532	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.001	T	T	137781729	G	T	137781729	3	4	147	1	0	0	0	0	1	0	0	0	4878	1058	37	2	74	2	DZIP1L	3	137781729	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	13616009	137781729	60240701	75	37430											
PEX5L	51555	genome.wustl.edu	37	chr3	179592121	179592121	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagttttgttacctgagtCggagccactaattccaattc	10	14	7	10	1	1	1	1	1	0	0	4	2	2	2	3	1	2	2	3	1	3	6			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:179592121C>T	ENST00000467460.1	-	7	1050	c.720G>A	c.(718-720)ccG>ccA	p.P240P	PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Silent_p.P132P|PEX5L_ENST00000263962.8_Silent_p.P238P|PEX5L_ENST00000465751.1_Silent_p.P216P|PEX5L_ENST00000464614.1_Silent_p.P132P|PEX5L_ENST00000468741.1_Silent_p.P48P|PEX5L_ENST00000476138.1_Silent_p.P197P|PEX5L_ENST00000485199.1_Silent_p.P205P|PEX5L_ENST00000472994.1_Silent_p.P181P	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	240					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTACCTGAGTCGGAGCCACTA	0.383																																																	0													93	90	91					3																	179592121		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.720G>A	3.37:g.179592121C>T			B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P240	ENST00000467460.1	37	c.720	CCDS3236.1	3																																																																																			PEX5L	-	NULL	ENSG00000114757		0.383	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	-	0	85	0	C	NM_016559		179592121	-1	tier1	-	no_errors	ENST00000467460	ensembl	human	known	74_37	silent	50.00	29	29	SNP	0.739	T	T	179592121	C	T	179592121	2	4	147	1	0	0	0	0	0	0	0	1	11788	871	31	1		1	PEX5L	3	179592121	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	41810392	179592121	18430309	76	37431											
CCDC149	91050	genome.wustl.edu	37	chr4	24838911	24838911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgcccactcaggatatGgttcagctcctggttgagcc	6	11	11	13	1	2	1	2	1	0	0	4	2	3	2	3	3	3	3	3	3	1	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr4:24838911G>T	ENST00000389609.4	-	7	744	c.601C>A	c.(601-603)Cat>Aat	p.H201N	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Missense_Mutation_p.H201N|CCDC149_ENST00000502801.1_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	146										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CTCAGGATATGGTTCAGCTCC	0.577																																																	0													193	132	153					4																	24838911		2203	4300	6503	SO:0001583	missense	0				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.601C>A	4.37:g.24838911G>T	ENSP00000374260:p.His201Asn		A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Missense_Mutation	SNP	pfam_Coiled-coil_dom-contain_pr_149	p.H201N	ENST00000389609.4	37	c.601	CCDS33967.2	4	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276405	0.80580	.	.	ENSG00000181982	ENST00000504487;ENST00000389609;ENST00000382116;ENST00000503881	.	.	.	6.07	6.07	0.98685	.	0.082771	0.85682	D	0.000000	T	0.77948	0.4207	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74023	0.972;0.982	T	0.72581	-0.4250	9	0.33940	T	0.23	-15.06	20.6439	0.99570	0.0:0.0:1.0:0.0	.	146;201	Q6ZUS6;G5EA04	CC149_HUMAN;.	N	201;201;125;146	.	ENSP00000371550:H125N	H	-	1	0	CCDC149	24448009	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CAT	CCDC149	-	pfam_Coiled-coil_dom-contain_pr_149	ENSG00000181982		0.577	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC149	HGNC	protein_coding	OTTHUMT00000360157.1		0	96	0	G	NM_173463		24838911	-1			no_errors	ENST00000504487	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	24838911	G	T	24838911	3	4	147	1	0	0	0	0	1	0	0	0	2790	1348	47	3	1020	3	CCDC149	4	24838911	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09		24838911	166315365	77	37432											
TECRL	253017	genome.wustl.edu	37	chr4	65274862	65274862	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaatacatatctgtttccTtgtttgagcatcaaatattt	12	17	5	7	0	2	2	1	1	1	1	3	2	3	2	1	0	2	3	1	0	5	7			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr4:65274862T>A	ENST00000381210.3	-	1	318	c.208A>T	c.(208-210)Agg>Tgg	p.R70W	TECRL_ENST00000507440.1_Missense_Mutation_p.R70W	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	70					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATCTGTTTCCTTGTTTGAGCA	0.343																																																	0													52	48	49					4																	65274862		2203	4300	6503	SO:0001583	missense	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.208A>T	4.37:g.65274862T>A	ENSP00000370607:p.Arg70Trp			Missense_Mutation	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.R70W	ENST00000381210.3	37	c.208	CCDS33990.1	4	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389331	0.61956	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.46819	0.86;0.86;0.86	4.99	3.71	0.42584	.	0.117666	0.56097	D	0.000023	T	0.60287	0.2257	M	0.75615	2.305	0.26994	N	0.965075	D;P	0.53885	0.963;0.661	P;B	0.58130	0.833;0.381	T	0.55309	-0.8161	10	0.87932	D	0	-3.1051	9.4264	0.38583	0.0:0.0:0.1785:0.8215	.	70;70	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	W	70	ENSP00000426043:R70W;ENSP00000370607:R70W;ENSP00000422497:R70W	ENSP00000370607:R70W	R	-	1	2	TECRL	64957457	0.990000	0.36364	0.986000	0.45419	0.882000	0.50991	1.811000	0.38942	2.001000	0.58596	0.533000	0.62120	AGG	TECRL	-	NULL	ENSG00000205678		0.343	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	-	0	36	0	T	NM_001010874		65274862	-1	tier1	-	no_errors	ENST00000381210	ensembl	human	known	74_37	missense	12.87	88	13	SNP	0.826	A	A	65274862	T	A	65274862	3	1	147	1	0	0	0	0	1	0	0	0	15793	1608	56	5	931	5	TECRL	4	65274862	Missense_Mutation	SNP	T	TCGA-R6-A6Y2-01B-11D-A33E-09	40435951	65274862	125879414	78	37433											
DSPP	1834	genome.wustl.edu	37	chr4	88535199	88535199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatgataagtccatgcaagGagatgatcccaatagcagtg	14	9	11	7	0	0	4	0	3	0	1	2	5	2	4	2	1	2	2	2	1	4	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr4:88535199G>T	ENST00000282478.7	+	4	1418	c.1385G>T	c.(1384-1386)gGa>gTa	p.G462V	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.G462V			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	462	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)		TCCATGCAAGGAGATGATCCC	0.383																																																	0													141	133	136					4																	88535199		2019	4182	6201	SO:0001583	missense	0			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.1385G>T	4.37:g.88535199G>T	ENSP00000282478:p.Gly462Val		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.G462V	ENST00000282478.7	37	c.1385	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	G	9.129	1.010874	0.19277	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.94376	-3.41;-3.41	4.59	2.74	0.32292	.	0.706089	0.11068	N	0.603216	D	0.95971	0.8688	M	0.78049	2.395	0.47862	D	0.999531	D	0.71674	0.998	D	0.64321	0.924	D	0.92873	0.6316	10	0.62326	D	0.03	-2.4329	12.179	0.54202	0.0:0.3317:0.6683:0.0	.	462	Q9NZW4	DSPP_HUMAN	V	462	ENSP00000382213:G462V;ENSP00000282478:G462V	ENSP00000282478:G462V	G	+	2	0	DSPP	88754223	1.000000	0.71417	0.997000	0.53966	0.430000	0.31655	2.758000	0.47565	0.304000	0.22809	0.446000	0.29264	GGA	DSPP	-	NULL	ENSG00000152591		0.383	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3		0	55	0	G	NM_014208		88535199	1			no_errors	ENST00000282478	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T	T	88535199	G	T	88535199	3	4	147	1	0	0	0	0	1	0	0	0	4796	1174	41	3	1399	3	DSPP	4	88535199	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	23260337	88535199	102619077	79	37434											
KIAA1430	57587	genome.wustl.edu	37	chr4	186084009	186084009	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcgagggtggccactGgaggggtcaaccgctgatcg	6	9	15	11	3	2	1	1	1	1	0	4	3	2	2	2	5	1	1	2	5	1	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr4:186084009G>T	ENST00000458385.2	-	5	1661	c.1542C>A	c.(1540-1542)tcC>tcA	p.S514S		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		514										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGTGGCCACTGGAGGGGTCAA	0.433																																																	0													49	54	52					4																	186084009		1933	4134	6067	SO:0001819	synonymous_variant	0																														ENST00000458385.2:c.1542C>A	4.37:g.186084009G>T			B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	NULL	p.S514	ENST00000458385.2	37	c.1542	CCDS47168.1	4																																																																																			KIAA1430	-	NULL	ENSG00000164323		0.433	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	-	0	116	0	G			186084009	-1	tier1	-	no_errors	ENST00000458385	ensembl	human	novel	74_37	silent	7.55	49	4	SNP	0.012	T	T	186084009	G	T	186084009	2	4	147	1	0	0	0	0	0	0	0	1	8259	1335	47	3		3	KIAA1430	4	186084009	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	97548810	186084009	5070267	80	37435											
SORBS2	8470	genome.wustl.edu	37	chr4	186598368	186598368	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggccttttgagaaatgacGgtacttcgacagatttggag	10	11	14	6	2	0	3	0	2	0	2	1	6	0	4	1	4	1	1	1	4	2	5	rs532231815		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr4:186598368G>T	ENST00000284776.7	-	4	465				SORBS2_ENST00000437304.2_Missense_Mutation_p.P92Q|SORBS2_ENST00000355634.5_Intron|RP11-626E13.1_ENST00000447277.1_RNA|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000319471.9_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)		GAGAAATGACGGTACTTCGAC	0.483																																					Esophageal Squamous(153;41 2433 9491 36028)												0													143	128	133					4																	186598368		692	1591	2283	SO:0001627	intron_variant	0				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.44+1208C>A	4.37:g.186598368G>T			A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.P92Q	ENST00000284776.7	37	c.275	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	G	4.462	0.085571	0.08583	.	.	ENSG00000154556	ENST00000437304	T	0.49139	0.79	5.91	5.07	0.68467	.	.	.	.	.	T	0.29652	0.0740	N	0.08118	0	0.45747	D	0.998648	P	0.39216	0.664	B	0.36989	0.238	T	0.27905	-1.0060	9	0.66056	D	0.02	.	13.3695	0.60705	0.0723:0.0:0.9277:0.0	.	92	E9PAW4	.	Q	92	ENSP00000396008:P92Q	ENSP00000396008:P92Q	P	-	2	0	SORBS2	186835362	0.700000	0.27796	0.005000	0.12908	0.064000	0.16182	3.098000	0.50259	1.505000	0.48720	0.655000	0.94253	CCG	SORBS2	-	NULL	ENSG00000154556		0.483	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3		0	60	0	G	NM_003603		186598368	-1			no_errors	ENST00000437304	ensembl	human	putative	74_37	missense	5.56	34	2	SNP	0.017	T	T	186598368	G	T	186598368	1	4	147	0	1	0	0	0	0	0	0	0	14973	1116	39	2		2	SORBS2	4	186598368	Intron	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	514359	186598368	4555908	81	37436											
SLC12A7	10723	genome.wustl.edu	37	chr5	1064243	1064243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcatgagcatgccgccGtcgtgcacgatccaccacac	10	5	10	16	4	0	1	0	1	0	0	2	2	1	1	4	0	5	4	4	0	0	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:1064243G>T	ENST00000264930.5	-	19	2605	c.2562C>A	c.(2560-2562)gaC>gaA	p.D854E	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	854					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)	GCATGCCGCCGTCGTGCACGA	0.687																																																	0													43	38	40					5																	1064243		2199	4292	6491	SO:0001583	missense	0			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.2562C>A	5.37:g.1064243G>T	ENSP00000264930:p.Asp854Glu		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.D854E	ENST00000264930.5	37	c.2562	CCDS34129.1	5	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942530	0.53079	.	.	ENSG00000113504	ENST00000264930	D	0.95588	-3.75	4.26	1.3	0.21679	.	0.000000	0.85682	D	0.000000	D	0.96216	0.8766	M	0.82433	2.59	0.50467	D	0.999872	D	0.71674	0.998	P	0.56960	0.81	D	0.94504	0.7712	10	0.72032	D	0.01	.	7.9702	0.30124	0.4523:0.0:0.5477:0.0	.	854	Q9Y666	S12A7_HUMAN	E	854	ENSP00000264930:D854E	ENSP00000264930:D854E	D	-	3	2	SLC12A7	1117243	0.916000	0.31088	1.000000	0.80357	0.588000	0.36517	-0.010000	0.12743	0.243000	0.21327	0.313000	0.20887	GAC	SLC12A7	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000113504		0.687	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	-	0	89	0	G	NM_006598		1064243	-1	tier1	-	no_errors	ENST00000264930	ensembl	human	known	74_37	missense	100.00	0	2	SNP	0.998	T	T	1064243	G	T	1064243	3	4	147	1	0	0	0	0	1	0	0	0	14433	1136	40	2	713	2	SLC12A7	5	1064243	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09		1064243	179851017	82	37437											
DNAH5	1767	genome.wustl.edu	37	chr5	13928243	13928243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttgatagtaaaacatgagGtgtcggagacctccaacagc	13	9	10	9	1	1	3	0	2	1	1	3	4	2	3	2	2	3	1	2	2	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:13928243G>T	ENST00000265104.4	-	3	341	c.237C>A	c.(235-237)caC>caA	p.H79Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	79	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAACATGAGGTGTCGGAGAC	0.358									Kartagener syndrome																																								0													108	109	109					5																	13928243		2203	4300	6503	SO:0001583	missense	0	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.237C>A	5.37:g.13928243G>T	ENSP00000265104:p.His79Gln		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.H79Q	ENST00000265104.4	37	c.237	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252991	0.22965	.	.	ENSG00000039139	ENST00000265104	T	0.21543	2.0	5.32	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	M	0.63428	1.95	0.49051	D	0.999746	B	0.15719	0.014	B	0.14023	0.01	T	0.05683	-1.0870	10	0.15066	T	0.55	.	8.75	0.34609	0.368:0.0:0.632:0.0	.	79	Q8TE73	DYH5_HUMAN	Q	79	ENSP00000265104:H79Q	ENSP00000265104:H79Q	H	-	3	2	DNAH5	13981243	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.224000	0.32539	0.711000	0.32018	0.655000	0.94253	CAC	DNAH5	-	NULL	ENSG00000039139		0.358	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	41	0	G	NM_001369		13928243	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	13928243	G	T	13928243	3	4	147	1	0	0	0	0	1	0	0	0	4618	1252	44	3	13945	3	DNAH5	5	13928243	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	12864000	13928243	166987017	83	37438											
PDZD2	23037	genome.wustl.edu	37	chr5	32074051	32074051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagacaagccagtctccccGgaagcccacaggccctccga	10	3	9	19	2	1	1	0	0	1	1	3	3	2	2	7	2	2	0	7	2	2	0	rs384728	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:32074051G>A	ENST00000438447.1	+	18	3227	c.2839G>A	c.(2839-2841)Gga>Aga	p.G947R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G947R			O15018	PDZD2_HUMAN	PDZ domain containing 2	947					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G947R(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGTCTCCCCGGAAGCCCACA	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											54	60	58					5																	32074051		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2839G>A	5.37:g.32074051G>A	ENSP00000402033:p.Gly947Arg		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G947R	ENST00000438447.1	37	c.2839	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266746	0.80358	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.09817	2.94;2.94	5.78	5.78	0.91487	.	0.000000	0.50627	D	0.000118	T	0.20373	0.0490	L	0.29908	0.895	0.39286	D	0.964657	D;D	0.89917	1.0;1.0	D;D	0.85130	0.95;0.997	T	0.01140	-1.1439	10	0.54805	T	0.06	.	10.8624	0.46833	0.0847:0.0:0.9153:0.0	.	773;947	B4E3P2;O15018	.;PDZD2_HUMAN	R	947;749;947	ENSP00000402033:G947R;ENSP00000282493:G947R	ENSP00000282493:G947R	G	+	1	0	PDZD2	32109808	1.000000	0.71417	0.994000	0.49952	0.867000	0.49689	3.961000	0.56759	2.724000	0.93272	0.563000	0.77884	GGA	PDZD2	-	NULL	ENSG00000133401		0.587	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0	59	0	G			32074051	1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	56.67	13	17	SNP	0.981	A	A	32074051	G	A	32074051	3	1	147	1	0	0	0	0	1	0	0	0	11740	1117	39	1	2905	1	PDZD2	5	32074051	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	18145808	32074051	148841209	84	37439											
NIPBL	25836	genome.wustl.edu	37	chr5	36985957	36985957	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	acaaaaatcaagacctgacaGtcctcgtgttaaacaaggag	17	7	8	9	1	1	2	1	1	0	1	3	3	2	3	2	1	1	1	2	1	6	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:36985957G>T	ENST00000282516.8	+	10	3174	c.2675G>T	c.(2674-2676)aGt>aTt	p.S892I	NIPBL_ENST00000448238.2_Missense_Mutation_p.S892I|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	892					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)			AGACCTGACAGTCCTCGTGTT	0.378																																																	0													51	54	53					5																	36985957		2203	4300	6503	SO:0001583	missense	0			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.2675G>T	5.37:g.36985957G>T	ENSP00000282516:p.Ser892Ile		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S892I	ENST00000282516.8	37	c.2675	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924957	0.34002	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94497	-3.44;-3.44	5.99	5.99	0.97316	.	0.154834	0.64402	D	0.000016	D	0.90352	0.6981	N	0.24115	0.695	0.46499	D	0.999075	B;P	0.37207	0.244;0.587	B;B	0.36289	0.11;0.221	D	0.90741	0.4650	10	0.66056	D	0.02	.	16.6927	0.85326	0.0:0.1292:0.8708:0.0	.	892;892	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	I	892	ENSP00000282516:S892I;ENSP00000406266:S892I	ENSP00000282516:S892I	S	+	2	0	NIPBL	37021714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.777000	0.68931	2.840000	0.97914	0.655000	0.94253	AGT	NIPBL	-	NULL	ENSG00000164190		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1		0	42	0	G	NM_015384		36985957	1			no_errors	ENST00000282516	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	36985957	G	T	36985957	3	4	147	1	0	0	0	0	1	0	0	0	10467	1029	36	3	2709	3	NIPBL	5	36985957	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	4911906	36985957	143929303	85	37440											
C5orf42	65250	genome.wustl.edu	37	chr5	37226488	37226488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccagtttttctgaaaacCactatcttgaaacatctgaa	15	12	5	9	0	3	4	0	3	3	1	3	4	3	4	2	0	2	1	2	0	5	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:37226488C>A	ENST00000508244.1	-	11	2302	c.2209G>T	c.(2209-2211)Ggt>Tgt	p.G737C	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.G737C			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	737						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)			TTCTGAAAACCACTATCTTGA	0.363																																																	0													38	33	34					5																	37226488		692	1591	2283	SO:0001583	missense	0				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.2209G>T	5.37:g.37226488C>A	ENSP00000421690:p.Gly737Cys		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.G737C	ENST00000508244.1	37	c.2209	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	2.278	-0.365417	0.05069	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	T;T	0.22336	1.96;1.96	4.72	-0.894	0.10563	.	2.133630	0.02516	U	0.092048	T	0.12347	0.0300	N	0.16478	0.41	0.09310	N	0.999998	B	0.09022	0.002	B	0.10450	0.005	T	0.32719	-0.9896	10	0.66056	D	0.02	3.8289	0.5504	0.00661	0.2178:0.316:0.1887:0.2776	.	737	E9PH94	.	C	737	ENSP00000421690:G737C;ENSP00000389014:G737C	ENSP00000389014:G737C	G	-	1	0	C5orf42	37262245	0.000000	0.05858	0.000000	0.03702	0.558000	0.35554	-0.656000	0.05342	0.075000	0.16796	0.591000	0.81541	GGT	C5orf42	-	NULL	ENSG00000197603		0.363	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0	52	0	C	NM_023073		37226488	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	A	A	37226488	C	A	37226488	3	1	147	1	0	0	0	0	1	0	0	0	2308	594	21	3	7548	3	C5orf42	5	37226488	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	240531	37226488	143688772	86	37441											
SLC30A5	64924	genome.wustl.edu	37	chr5	68398888	68398888	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgtttcaatatttacaGgactgcattttttatggttt	10	21	6	4	0	1	0	1	0	0	0	1	1	1	1	0	2	2	3	0	2	5	9			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:68398888G>T	ENST00000396591.3	+	3	816		c.e3-1		SLC30A5_ENST00000380860.4_Splice_Site|SLC30A5_ENST00000502979.1_Splice_Site	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5						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)		AATATTTACAGGACTGCATTT	0.269																																																	0													58	68	65					5																	68398888		2185	4296	6481	SO:0001630	splice_region_variant	0			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.207-1G>T	5.37:g.68398888G>T			B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Splice_Site	SNP	-	e3-1	ENST00000396591.3	37	c.207-1	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147532	0.77888	.	.	ENSG00000145740	ENST00000396591;ENST00000380860;ENST00000504103;ENST00000502979	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A5	68434644	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.365000	0.79537	2.941000	0.99782	0.655000	0.94253	.	SLC30A5	-	-	ENSG00000145740		0.269	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2		0	47	0	G		Intron	68398888	1			no_errors	ENST00000396591	ensembl	human	known	74_37	splice_site	7.14	52	4	SNP	1.000	T	T	68398888	G	T	68398888	5	4	147	1	0	0	0	0	0	0	1	0	14603	1014	35	3	216	3	SLC30A5	5	68398888	Splice_Site	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	31172400	68398888	112516372	87	37442											
MCCC2	64087	genome.wustl.edu	37	chr5	70939714	70939714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttctcttttctgaatctGcaaaaaaggcaagtactgtt	12	14	8	7	0	3	1	0	1	3	0	4	2	3	1	0	1	2	5	0	1	6	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:70939714G>A	ENST00000340941.6	+	12	1270	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	MCCC2_ENST00000323375.8_Missense_Mutation_p.A343T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	381	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TTCTGAATCTGCAAAAAAGGC	0.299																																																	0													111	121	118					5																	70939714		2203	4300	6503	SO:0001583	missense	0			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1141G>A	5.37:g.70939714G>A	ENSP00000343657:p.Ala381Thr		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C	p.A381T	ENST00000340941.6	37	c.1141	CCDS34184.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.261175	0.95368	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.98567	-5.0;-5.0;-5.0	5.65	5.65	0.86999	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	H	0.97051	3.93	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	D	0.98758	1.0723	10	0.87932	D	0	-8.8497	18.5014	0.90882	0.0:0.0:1.0:0.0	.	381	Q9HCC0	MCCB_HUMAN	T	381;343;153	ENSP00000343657:A381T;ENSP00000327308:A343T;ENSP00000425474:A153T	ENSP00000327308:A343T	A	+	1	0	MCCC2	70975470	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.529000	0.98049	2.664000	0.90586	0.650000	0.86243	GCA	MCCC2	-	pfam_Carboxyl_trans,pfscan_COA_CT_C	ENSG00000131844		0.299	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC2	HGNC	protein_coding	OTTHUMT00000369243.4	-	0	70	0	G			70939714	1	tier1	-	no_errors	ENST00000340941	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A	A	70939714	G	A	70939714	3	1	147	1	0	0	0	0	1	0	0	0	9413	1319	46	3	1187	3	MCCC2	5	70939714	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2540826	70939714	109975546	88	37443											
VCAN	1462	genome.wustl.edu	37	chr5	82834534	82834534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatataacccaaacatccagGgaaatagtgatttcagagcg	17	8	8	8	1	1	2	1	1	0	1	2	3	2	3	2	1	3	0	2	1	6	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:82834534G>T	ENST00000265077.3	+	8	6277	c.5712G>T	c.(5710-5712)agG>agT	p.R1904S	VCAN_ENST00000343200.5_Missense_Mutation_p.R917S|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1904	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAACATCCAGGGAAATAGTGA	0.433																																																	0													103	110	107					5																	82834534		2203	4300	6503	SO:0001583	missense	0			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.5712G>T	5.37:g.82834534G>T	ENSP00000265077:p.Arg1904Ser		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.R1904S	ENST00000265077.3	37	c.5712	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	8.910	0.958560	0.18507	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84800	-1.87;-1.9;3.23	6.02	2.02	0.26589	.	0.467087	0.21777	N	0.069273	T	0.72985	0.3529	L	0.29908	0.895	0.09310	N	0.999995	B;B	0.28933	0.228;0.146	B;B	0.21917	0.037;0.024	T	0.58651	-0.7599	10	0.30078	T	0.28	.	9.2603	0.37608	0.292:0.0:0.708:0.0	.	917;1904	P13611-2;P13611	.;CSPG2_HUMAN	S	1904;917;917	ENSP00000265077:R1904S;ENSP00000340062:R917S;ENSP00000426251:R917S	ENSP00000265077:R1904S	R	+	3	2	VCAN	82870290	0.008000	0.16893	0.339000	0.25562	0.045000	0.14185	1.129000	0.31381	0.369000	0.24510	0.655000	0.94253	AGG	VCAN	-	NULL	ENSG00000038427		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3		0	72	0	G	NM_004385		82834534	1			no_errors	ENST00000265077	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.005	T	T	82834534	G	T	82834534	3	4	147	1	0	0	0	0	1	0	0	0	17187	1223	43	3	5738	3	VCAN	5	82834534	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	11894820	82834534	98080726	89	37444											
APC	324	genome.wustl.edu	37	chr5	112170742	112170742	+	Frame_Shift_Del	DEL	T	T	-																															atgtgctgtagatggtgcacTtgcatttttggttggcactc																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:112170742delT	ENST00000457016.1	+	15	2218	c.1838delT	c.(1837-1839)cttfs	p.L613fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.L613fs|APC_ENST00000257430.4_Frame_Shift_Del_p.L613fs			P25054	APC_HUMAN	adenomatous polyposis coli	613	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)	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)		GATGGTGCACTTGCATTTTTG	0.418		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)											209	169	183					5																	112170742		2202	4300	6502	SO:0001589	frameshift_variant	0	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.1838delT	5.37:g.112170742delT	ENSP00000413133:p.Leu613fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A614fs	ENST00000457016.1	37	c.1838	CCDS4107.1	5																																																																																			APC	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000134982		0.418	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	58	0	T	NM_000038		112170742	1	tier1		no_errors	ENST00000257430	ensembl	human	known	74_37	frame_shift_del	51.22	20	21	DEL	1.000	-	-	112170742	T	-	112170742	7	5	147	1	0	1	0	1	0	0	0	0	763	1609	56	0	1892	0	APC	5	112170742	Frame_Shift_Del	DEL	T	TCGA-R6-A6Y2-01B-11D-A33E-09	29336208	112170742	68744518	90	37445											
FTMT	94033	genome.wustl.edu	37	chr5	121188036	121188036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaggagaccgagcacgcGgagaagctgatgaggctgca	11	3	18	9	4	0	4	0	2	0	2	0	8	0	5	1	4	3	4	1	4	1	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:121188036G>A	ENST00000321339.1	+	1	387	c.378G>A	c.(376-378)gcG>gcA	p.A126A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	126	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)		CCGAGCACGCGGAGAAGCTGA	0.587																																																	0													57	59	58					5																	121188036		2203	4300	6503	SO:0001819	synonymous_variant	0			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.378G>A	5.37:g.121188036G>A				Silent	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.A126	ENST00000321339.1	37	c.378	CCDS4128.1	5																																																																																			FTMT	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	ENSG00000181867		0.587	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	HGNC	protein_coding	OTTHUMT00000250884.1	-	0	65	0	G	NM_177478		121188036	1	tier1	-	no_errors	ENST00000321339	ensembl	human	known	74_37	silent	37.93	18	11	SNP	0.001	A	A	121188036	G	A	121188036	2	1	147	1	0	0	0	0	0	0	0	1	6109	1103	39	1		1	FTMT	5	121188036	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	9017294	121188036	59727224	91	37446											
CHSY3	337876	genome.wustl.edu	37	chr5	129521224	129521224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggtgcaggtggatttGatacctcaatacaaggctgg	10	12	12	7	0	2	1	1	1	1	0	2	2	2	2	1	5	3	2	1	5	5	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:129521224G>T	ENST00000305031.4	+	3	2747	c.2389G>T	c.(2389-2391)Gat>Tat	p.D797Y		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	797					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)	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)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGGTGGATTTGATACCTCAAT	0.393																																																	0													89	90	90					5																	129521224		2203	4300	6503	SO:0001583	missense	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2389G>T	5.37:g.129521224G>T	ENSP00000302629:p.Asp797Tyr		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.D797Y	ENST00000305031.4	37	c.2389	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246517	0.59103	.	.	ENSG00000198108	ENST00000305031	T	0.54071	0.59	4.09	4.09	0.47781	.	0.000000	0.52532	D	0.000080	T	0.76933	0.4057	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81899	-0.0721	9	.	.	.	.	17.6256	0.88093	0.0:0.0:1.0:0.0	.	797	Q70JA7	CHSS3_HUMAN	Y	797	ENSP00000302629:D797Y	.	D	+	1	0	CHSY3	129549123	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.571000	0.86741	0.650000	0.86243	GAT	CHSY3	-	pfam_Chond_GalNAc	ENSG00000198108		0.393	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	-	0	33	0	G	NM_175856		129521224	1	tier1	-	no_errors	ENST00000305031	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	129521224	G	T	129521224	3	4	147	1	0	0	0	0	1	0	0	0	3420	1290	45	3	2399	3	CHSY3	5	129521224	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	8333188	129521224	51394036	92	37447											
P4HA2	8974	genome.wustl.edu	37	chr5	131545994	131545994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	taccaagggagagcaggcggCgggtgagctccagggcacgg	9	3	19	10	3	0	2	0	1	0	1	1	3	1	2	2	6	3	3	2	6	2	1	rs200355999		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:131545994C>T	ENST00000401867.1	-	7	1260	c.692G>A	c.(691-693)cGc>cAc	p.R231H	P4HA2_ENST00000379100.2_Missense_Mutation_p.R231H|P4HA2_ENST00000379104.2_Missense_Mutation_p.R231H|P4HA2_ENST00000379086.1_Missense_Mutation_p.R231H|P4HA2_ENST00000360568.3_Missense_Mutation_p.R231H|P4HA2_ENST00000166534.4_Missense_Mutation_p.R231H			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	231					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GAGCAGGCGGCGGGTGAGCTC	0.597																																					Esophageal Squamous(68;117 1135 17362 19256 34242)												0													122	124	124					5																	131545994		2203	4300	6503	SO:0001583	missense	0			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.692G>A	5.37:g.131545994C>T	ENSP00000384999:p.Arg231His		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R231H	ENST00000401867.1	37	c.692	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816801	0.70912	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.47177	0.86;0.85;0.86;0.85;0.86;0.85	5.78	5.78	0.91487	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.046113	0.85682	D	0.000000	T	0.63757	0.2538	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;D	0.66847	0.836;0.947	T	0.64198	-0.6464	10	0.56958	D	0.05	-12.9213	13.2363	0.59971	0.0:0.9278:0.0:0.0722	.	231;231	O15460;O15460-2	P4HA2_HUMAN;.	H	231	ENSP00000384999:R231H;ENSP00000368379:R231H;ENSP00000166534:R231H;ENSP00000353772:R231H;ENSP00000368398:R231H;ENSP00000368394:R231H	ENSP00000166534:R231H	R	-	2	0	P4HA2	131573893	0.998000	0.40836	1.000000	0.80357	0.381000	0.30169	3.891000	0.56227	2.724000	0.93272	0.563000	0.77884	CGC	P4HA2	-	pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000072682		0.597	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	-	0	70	0	C	NM_004199		131545994	-1	tier1	rs200355999	no_errors	ENST00000166534	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	131545994	C	T	131545994	3	4	147	1	0	0	0	0	1	0	0	0	11396	768	27	1	1019	1	P4HA2	5	131545994	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	2024770	131545994	49369266	93	37448											
PCDHA4	56144	genome.wustl.edu	37	chr5	140187432	140187432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgatggaggcaaaccCgagttgactggcaccgttca	10	7	12	12	2	1	2	1	2	0	0	1	4	1	3	3	3	1	4	3	3	1	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:140187432C>T	ENST00000530339.1	+	1	660	c.660C>T	c.(658-660)ccC>ccT	p.P220P	PCDHA4_ENST00000512229.2_Silent_p.P220P|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.P220P	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	220	Cadherin 2. {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(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCAAACCCGAGTTGACTG	0.438																																																	0													59	63	61					5																	140187432		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.660C>T	5.37:g.140187432C>T			O75285|Q2M253	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P220	ENST00000530339.1	37	c.660	CCDS54916.1	5																																																																																			PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.438	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	-	0	86	0	C	NM_018907		140187432	1	tier1	-	no_errors	ENST00000530339	ensembl	human	known	74_37	silent	36.59	26	15	SNP	0.001	T	T	140187432	C	T	140187432	2	4	147	1	0	0	0	0	0	0	0	1	11565	639	23	1		1	PCDHA4	5	140187432	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	8641438	140187432	40727828	94	37449											
PCDHAC1	56135	genome.wustl.edu	37	chr5	140307146	140307146	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagtcaccatcattgtGgtggacacaaatgacaacgc	14	7	9	11	1	2	1	2	1	0	0	2	2	2	2	1	2	1	1	1	2	3	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:140307146G>T	ENST00000253807.2	+	1	669	c.669G>T	c.(667-669)gtG>gtT	p.V223V	PCDHAC1_ENST00000409700.3_Silent_p.V223V|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	223	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCATTGTGGTGGACACAA	0.582																																																	0													42	46	45					5																	140307146		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.669G>T	5.37:g.140307146G>T			Q9Y5F5|Q9Y5I5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V223	ENST00000253807.2	37	c.669	CCDS4241.1	5																																																																																			PCDHAC1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000248383		0.582	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	-	0	54	0	G	NM_018898		140307146	1	tier1	-	no_errors	ENST00000253807	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.998	T	T	140307146	G	T	140307146	2	4	147	1	0	0	0	0	0	0	0	1	11571	1335	47	3		3	PCDHAC1	5	140307146	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	119714	140307146	40608114	95	37450											
TCOF1	6949	genome.wustl.edu	37	chr5	149758557	149758557	+	Frame_Shift_Del	DEL	A	A	-																															gggacaatttcagcccctggAaaagttgtcactgcagctgc																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:149758557delA	ENST00000504761.2	+	15	2430	c.2430delA	c.(2428-2430)ggafs	p.G810fs	TCOF1_ENST00000377797.3_Frame_Shift_Del_p.G810fs|TCOF1_ENST00000445265.2_Frame_Shift_Del_p.G733fs|TCOF1_ENST00000439160.2_Frame_Shift_Del_p.G810fs|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000323668.7_Frame_Shift_Del_p.G733fs|TCOF1_ENST00000394269.3_Frame_Shift_Del_p.G810fs|TCOF1_ENST00000513346.1_Frame_Shift_Del_p.G810fs|TCOF1_ENST00000451292.1_Frame_Shift_Del_p.G810fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	810					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)			CAGCCCCTGGAAAAGTTGTCA	0.557																																																	0													81	86	84					5																	149758557		2203	4300	6503	SO:0001589	frameshift_variant	0				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.2430delA	5.37:g.149758557delA	ENSP00000421655:p.Gly810fs		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Del	DEL	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.V812fs	ENST00000504761.2	37	c.2430	CCDS54936.1	5																																																																																			TCOF1	-	pfam_TCS_treacle	ENSG00000070814		0.557	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1		0	122	0	A	NM_001008656		149758557	1	tier1		no_errors	ENST00000451292	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.596	-	-	149758557	A	-	149758557	7	5	147	1	0	1	0	1	0	0	0	0	15755	233	9	0	2488	0	TCOF1	5	149758557	Frame_Shift_Del	DEL	A	TCGA-R6-A6Y2-01B-11D-A33E-09	9451411	149758557	31156703	96	37451											
SLIT3	6586	genome.wustl.edu	37	chr5	168233482	168233482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccctccggcaagttggcagGaatctccatcaagccctttc	8	9	9	15	1	2	0	1	0	1	0	5	1	3	1	4	3	1	3	4	3	3	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:168233482G>T	ENST00000519560.1	-	9	1323	c.904C>A	c.(904-906)Cct>Act	p.P302T	SLIT3_ENST00000332966.8_Missense_Mutation_p.P302T|SLIT3_ENST00000404867.3_Missense_Mutation_p.P302T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	302	LRRNT 2.				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)			AAGTTGGCAGGAATCTCCATC	0.577																																					Ovarian(29;311 847 10864 17279 24903)												0													89	81	84					5																	168233482		2203	4300	6503	SO:0001583	missense	0			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.904C>A	5.37:g.168233482G>T	ENSP00000430333:p.Pro302Thr		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.P302T	ENST00000519560.1	37	c.904	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621016	0.87460	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.99857	-7.22;-7.22;-7.22	5.52	5.52	0.82312	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99926	0.9966	H	0.98918	4.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.966	D;D;P	0.91635	0.999;0.999;0.855	D	0.96033	0.9018	10	0.87932	D	0	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	302;302;302	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	T	302	ENSP00000430333:P302T;ENSP00000332164:P302T;ENSP00000384890:P302T	ENSP00000332164:P302T	P	-	1	0	SLIT3	168166060	1.000000	0.71417	0.993000	0.49108	0.805000	0.45488	9.046000	0.93817	2.595000	0.87683	0.655000	0.94253	CCT	SLIT3	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000184347		0.577	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	-	0	104	0	G	NM_003062		168233482	-1	tier1	-	no_errors	ENST00000519560	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	168233482	G	T	168233482	3	4	147	1	0	0	0	0	1	0	0	0	14786	1174	41	3	3779	3	SLIT3	5	168233482	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	18474925	168233482	12681778	97	37452											
N4BP3	23138	genome.wustl.edu	37	chr5	177547253	177547253	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatccatgcaaagtctggcGtcccacaaaggccagaagct	12	7	9	13	1	1	1	0	0	1	1	3	1	3	1	3	2	2	2	3	2	4	1	rs377627701		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:177547253G>A	ENST00000274605.5	+	3	764	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	135						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|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)			AAAGTCTGGCGTCCCACAAAG	0.682													G|||	1	0.000199681	0	0	5008	,	,		13875	0		0	False		,,,				2504	0.001																0								G		0,4406		0,0,2203	38	39	39		405	-10	0.1	5		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	N4BP3	NM_015111.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		135/545	177547253	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.405G>A	5.37:g.177547253G>A			B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Silent	SNP	NULL	p.A135	ENST00000274605.5	37	c.405	CCDS34307.1	5																																																																																			N4BP3	-	NULL	ENSG00000145911		0.682	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP3	HGNC	protein_coding	OTTHUMT00000373552.2	-	0	95	0	G	NM_015111		177547253	1	tier1	-	no_errors	ENST00000274605	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.167	A	A	177547253	G	A	177547253	2	1	147	1	0	0	0	0	0	0	0	1	10151	1132	40	1		1	N4BP3	5	177547253	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	9313771	177547253	3368007	98	37453											
CLK4	57396	genome.wustl.edu	37	chr5	178032350	178032350	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgggtcctaatattcgttCcatcattgccaggtgctctt	7	16	8	10	1	2	0	1	0	1	0	5	0	4	0	3	2	2	2	3	2	3	7			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:178032350C>A	ENST00000316308.4	-	11	1336	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	390	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)		AATATTCGTTCCATCATTGCC	0.323																																																	0													165	148	154					5																	178032350		2203	4300	6503	SO:0001587	stop_gained	0			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.1168G>T	5.37:g.178032350C>A	ENSP00000316948:p.Glu390*			Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E390*	ENST00000316308.4	37	c.1168	CCDS4437.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.343830	0.98224	.	.	ENSG00000113240	ENST00000316308	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.812	0.85724	0.0:1.0:0.0:0.0	.	.	.	.	X	390	.	ENSP00000316948:E390X	E	-	1	0	CLK4	177964956	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.626000	0.67777	2.548000	0.85928	0.585000	0.79938	GAA	CLK4	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000113240		0.323	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	HGNC	protein_coding	OTTHUMT00000253479.2	-	0	48	0	C			178032350	-1	tier1	-	no_errors	ENST00000316308	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	A	A	178032350	C	A	178032350	4	1	147	1	0	0	0	0	0	1	0	0	3546	864	30	3	289	3	CLK4	5	178032350	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	485097	178032350	2882910	99	37454											
HNRNPH1	3187	genome.wustl.edu	37	chr5	179050064	179050064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaacctctgcacttcatcgGccgagcaagaccagggcaag	13	5	10	13	2	2	1	1	0	1	1	3	2	2	1	3	2	3	3	3	2	4	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:179050064G>A	ENST00000356731.5	-	1	1606	c.71C>T	c.(70-72)gCc>gTc	p.A24V	HNRNPH1_ENST00000393432.4_Missense_Mutation_p.A24V|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.A24V|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.A24V|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.A24V			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	24	RRM 1. {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)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.A24V(3)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CACTTCATCGGCCGAGCAAGA	0.637																																																	3	Substitution - Missense(3)	kidney(3)											83	72	76					5																	179050064		2203	4300	6503	SO:0001583	missense	0			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.71C>T	5.37:g.179050064G>A	ENSP00000349168:p.Ala24Val		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.A24V	ENST00000356731.5	37	c.71	CCDS4446.1	5	.	.	.	.	.	.	.	.	.	.	g	6.515	0.463169	0.12402	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000503105;ENST00000508103;ENST00000506721;ENST00000523137;ENST00000505811;ENST00000510431;ENST00000519056;ENST00000504348;ENST00000513225;ENST00000515158;ENST00000521116;ENST00000515714;ENST00000503664;ENST00000522256	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;3.36;1.56;1.56;1.56;1.56;1.56	3.58	3.58	0.41010	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.261210	0.37906	N	0.001892	T	0.16257	0.0391	N	0.12443	0.215	0.58432	D	0.999995	B	0.09022	0.002	B	0.16722	0.016	T	0.07009	-1.0795	10	0.20519	T	0.43	-2.2153	10.5509	0.45087	0.0:0.0:0.8062:0.1938	.	24	P31943	HNRH1_HUMAN	V	24	ENSP00000377082:A24V;ENSP00000397797:A24V;ENSP00000349168:A24V;ENSP00000327539:A24V;ENSP00000426275:A24V;ENSP00000427408:A24V;ENSP00000425732:A24V;ENSP00000420850:A24V;ENSP00000427986:A24V;ENSP00000424087:A24V;ENSP00000423140:A24V;ENSP00000430970:A24V;ENSP00000427388:A24V;ENSP00000426518:A24V;ENSP00000421695:A24V;ENSP00000429661:A24V;ENSP00000425343:A24V;ENSP00000426726:A24V	ENSP00000327539:A24V	A	-	2	0	HNRNPH1	178982670	0.775000	0.28604	0.783000	0.31826	0.887000	0.51463	2.903000	0.48711	1.699000	0.51192	0.491000	0.48974	GCC	HNRNPH1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000169045		0.637	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HNRNPH1	HGNC	protein_coding	OTTHUMT00000253497.3	-	0	154	0	G	NM_005520		179050064	-1	tier1	-	no_errors	ENST00000356731	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.678	A	A	179050064	G	A	179050064	3	1	147	1	0	0	0	0	1	0	0	0	7293	1203	42	3	1326	3	HNRNPH1	5	179050064	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1017714	179050064	1865196	100	37455											
TBC1D9B	23061	genome.wustl.edu	37	chr5	179291077	179291077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtacaggtcctgctccatggGgtcttcactgaacatgttgt	7	13	11	10	0	2	1	1	1	1	0	4	1	4	1	2	3	3	3	2	3	2	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:179291077G>A	ENST00000356834.3	-	22	3161	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.P201S|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.P183S|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P1025S|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1042						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)			TGCTCCATGGGGTCTTCACTG	0.542																																																	0													39	35	37					5																	179291077		2203	4300	6503	SO:0001583	missense	0			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.3124C>T	5.37:g.179291077G>A	ENSP00000349291:p.Pro1042Ser		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.P1042S	ENST00000356834.3	37	c.3124	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736986	0.49045	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438	T;T;T;T	0.42900	2.82;2.82;0.96;1.21	5.36	1.47	0.22746	.	0.063730	0.64402	N	0.000004	T	0.40886	0.1135	M	0.79475	2.455	0.53005	D	0.999969	B;B;B;B;P	0.36909	0.196;0.296;0.196;0.104;0.573	B;B;B;B;B	0.39660	0.128;0.251;0.128;0.132;0.306	T	0.12915	-1.0529	10	0.44086	T	0.13	-14.1985	4.4054	0.11407	0.1372:0.125:0.6083:0.1295	.	1024;1025;1042;241;116	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8	.;.;TBC9B_HUMAN;.;.	S	1042;1025;201;183;116	ENSP00000349291:P1042S;ENSP00000347375:P1025S;ENSP00000430293:P201S;ENSP00000401585:P183S	ENSP00000347375:P1025S	P	-	1	0	TBC1D9B	179223683	1.000000	0.71417	0.400000	0.26346	0.997000	0.91878	1.436000	0.34980	-0.016000	0.14127	0.462000	0.41574	CCC	TBC1D9B	-	NULL	ENSG00000197226		0.542	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3		0	57	0	G	NM_015043		179291077	-1			no_errors	ENST00000356834	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.998	A	A	179291077	G	A	179291077	3	1	147	1	0	0	0	0	1	0	0	0	15675	1232	43	3	632	3	TBC1D9B	5	179291077	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	241013	179291077	1624183	101	37456											
HIST1H4C	8364	genome.wustl.edu	37	chr6	26104455	26104455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtatatgccctaaaacgtCaggggcgcactctgtatggc	10	10	11	10	2	2	0	1	0	1	0	2	0	2	0	1	3	2	3	1	3	6	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:26104455C>G	ENST00000377803.2	+	1	352	c.280C>G	c.(280-282)Cag>Gag	p.Q94E		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	94					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						CCTAAAACGTCAGGGGCGCAC	0.473																																																	0													59	53	55					6																	26104455		2203	4300	6503	SO:0001583	missense	0			X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"Histones / Replication-dependent"	4787	protein-coding gene	gene with protein product		602827	"H4 histone family, member G", "histone 1, H4c"	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.280C>G	6.37:g.26104455C>G	ENSP00000367034:p.Gln94Glu		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.Q94E	ENST00000377803.2	37	c.280	CCDS4583.1	6	.	.	.	.	.	.	.	.	.	.	.	19.39	3.818775	0.71028	.	.	ENSG00000197061	ENST00000377803	T	0.68903	-0.36	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.78981	-0.1989	7	0.87932	D	0	.	16.8557	0.86005	0.0:1.0:0.0:0.0	.	.	.	.	E	94	ENSP00000367034:Q94E	ENSP00000367034:Q94E	Q	+	1	0	HIST1H4C	26212434	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	7.651000	0.83577	2.533000	0.85409	0.555000	0.69702	CAG	HIST1H4C	-	pfam_Histone_core_D,superfamily_Histone-fold,prints_Histone_H4	ENSG00000197061		0.473	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4C	HGNC	protein_coding	OTTHUMT00000040092.2	-	0	60	0	C	NM_003542		26104455	1	tier1	-	no_errors	ENST00000377803	ensembl	human	known	74_37	missense	15.25	50	9	SNP	1.000	G	G	26104455	C	G	26104455	3	3	147	1	0	0	0	0	1	0	0	0	7194	827	29	5	282	5	HIST1H4C	6	26104455	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09		26104455	145010612	102	37457											
TRIM10	10107	genome.wustl.edu	37	chr6	30122004	30122004	+	Silent	SNP	C	C	G	0	0	0	1	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	cacaccccctcctctggccgCagccgaagctcccccttccg	5	6	7	23	3	1	0	0	0	1	0	4	1	4	0	8	1	2	2	8	1	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:30122004C>G	ENST00000449742.2	-	7	1263	c.1188G>C	c.(1186-1188)ctG>ctC	p.L396L	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	396	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CCTCTGGCCGCAGCCGAAGCT	0.687																																																	0													42	31	35					6																	30122004		1509	2707	4216	SO:0001819	synonymous_variant	0			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1188G>C	6.37:g.30122004C>G			A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L396	ENST00000449742.2	37	c.1188	CCDS34375.1	6																																																																																			TRIM10	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000204613		0.687	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM10	HGNC	protein_coding	OTTHUMT00000076634.1		0	30	0	C			30122004	-1			no_errors	ENST00000449742	ensembl	human	known	74_37	silent	40.00	3	2	SNP	0.161	G	G	30122004	C	G	30122004	2	3	147	1	0	0	0	0	0	0	0	1	16534	697	25	5		5	TRIM10	6	30122004	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	4017549	30122004	140993063	103	37458											
MED20	9477	genome.wustl.edu	37	chr6	41884553	41884553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggtagaggcggccgtatGgtaagtctcacagtccacac	11	7	13	10	2	1	1	1	0	1	1	3	1	2	1	2	4	0	3	2	4	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:41884553G>T	ENST00000265350.4	-	2	219	c.139C>A	c.(139-141)Cat>Aat	p.H47N	MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409060.1_Missense_Mutation_p.H47N|MED20_ENST00000409312.1_Missense_Mutation_p.H47N|Y_RNA_ENST00000384641.1_RNA	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	47					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGGCCGTATGGTAAGTCTCA	0.507																																																	0													144	129	134					6																	41884553		2203	4300	6503	SO:0001583	missense	0			AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.139C>A	6.37:g.41884553G>T	ENSP00000265350:p.His47Asn		B4DE08|O95821|Q5T8J4|Q9Y429	Missense_Mutation	SNP	pfam_Mediator_Med20	p.H47N	ENST00000265350.4	37	c.139	CCDS4862.1	6	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549117	0.45383	.	.	ENSG00000124641	ENST00000265350;ENST00000409312;ENST00000394251;ENST00000409060	.	.	.	5.44	5.44	0.79542	.	0.201500	0.52532	D	0.000076	T	0.50990	0.1648	L	0.50993	1.605	0.47441	D	0.999421	P;P	0.42584	0.784;0.761	B;P	0.48571	0.39;0.582	T	0.44528	-0.9322	9	0.26408	T	0.33	-29.7468	17.0535	0.86526	0.0:0.0:1.0:0.0	.	47;47	B4DE08;Q9H944	.;MED20_HUMAN	N	47;47;39;47	.	ENSP00000265350:H47N	H	-	1	0	MED20	41992531	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	7.358000	0.79466	2.543000	0.85770	0.650000	0.86243	CAT	MED20	-	pfam_Mediator_Med20	ENSG00000124641		0.507	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED20	HGNC	protein_coding	OTTHUMT00000040539.1		0	128	0	G	NM_004275		41884553	-1			no_errors	ENST00000265350	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	41884553	G	T	41884553	3	4	147	1	0	0	0	0	1	0	0	0	9476	1348	47	3	511	3	MED20	6	41884553	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	11762549	41884553	129230514	104	37459											
SLC22A7	10864	genome.wustl.edu	37	chr6	43269984	43269984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctgagtctggatgtgtcgGggctggggctgaacgtgtac	5	10	18	8	2	1	2	0	2	1	0	2	3	1	3	1	5	2	3	1	5	2	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:43269984G>A	ENST00000372585.5	+	8	1203	c.1108G>A	c.(1108-1110)Ggg>Agg	p.G370R	SLC22A7_ENST00000372574.3_Missense_Mutation_p.G368R|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G368R	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	370					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)	GGATGTGTCGGGGCTGGGGCT	0.597																																																	0													123	109	114					6																	43269984		2203	4300	6503	SO:0001583	missense	0			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.1108G>A	6.37:g.43269984G>A	ENSP00000361666:p.Gly370Arg		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G370R	ENST00000372585.5	37	c.1108	CCDS4893.2	6	.	.	.	.	.	.	.	.	.	.	G	14.70	2.615130	0.46631	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.73575	0.32;0.32;0.32;-0.76	5.27	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.053078	0.85682	N	0.000000	T	0.74680	0.3748	L	0.50847	1.595	0.80722	D	1	P;P;P	0.46457	0.878;0.852;0.852	P;P;P	0.62649	0.905;0.847;0.847	T	0.78001	-0.2375	10	0.66056	D	0.02	.	11.2612	0.49085	0.0869:0.0:0.9131:0.0	.	370;368;368	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	R	368;370;368;63	ENSP00000361670:G368R;ENSP00000361666:G370R;ENSP00000361655:G368R;ENSP00000393836:G63R	ENSP00000361655:G368R	G	+	1	0	SLC22A7	43377962	0.008000	0.16893	0.252000	0.24328	0.136000	0.21042	1.146000	0.31589	1.224000	0.43551	0.462000	0.41574	GGG	SLC22A7	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000137204		0.597	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	SLC22A7	HGNC	protein_coding	OTTHUMT00000040588.1	-	0	155	0	G			43269984	1	tier1	-	no_errors	ENST00000372585	ensembl	human	known	74_37	missense	29.69	45	19	SNP	0.879	A	A	43269984	G	A	43269984	3	1	147	1	0	0	0	0	1	0	0	0	14504	1232	43	3	1134	3	SLC22A7	6	43269984	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1385431	43269984	127845083	105	37460											
SMAP1	60682	genome.wustl.edu	37	chr6	71377799	71377799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcatcctatccaagcttCtgagggaggaggacaacaag	13	7	11	10	0	2	1	1	1	1	0	4	4	4	4	2	3	3	2	2	3	4	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:71377799C>T	ENST00000370455.3	+	1	321	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SMAP1_ENST00000370452.3_Silent_p.L25L|SMAP1_ENST00000316999.5_Silent_p.L25L|SMAP1_ENST00000422334.2_Silent_p.L25L	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	25	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						ATCCAAGCTTCTGAGGGAGGA	0.652																																																	0													71	61	65					6																	71377799		2203	4300	6503	SO:0001819	synonymous_variant	0			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.73C>T	6.37:g.71377799C>T			Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Silent	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.L25	ENST00000370455.3	37	c.73	CCDS43478.1	6																																																																																			SMAP1	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP	ENSG00000112305		0.652	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	HGNC	protein_coding	OTTHUMT00000041149.1	-	0	138	0	C	NM_001044305		71377799	1	tier1	-	no_errors	ENST00000370455	ensembl	human	known	74_37	silent	34.29	23	12	SNP	1.000	T	T	71377799	C	T	71377799	2	4	147	1	0	0	0	0	0	0	0	1	14811	912	32	3		3	SMAP1	6	71377799	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	28107815	71377799	99737268	106	37461											
KCNQ5	56479	genome.wustl.edu	37	chr6	73787086	73787086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatagcagttgtttctgcaAaaactcagggtaatattttt	13	15	7	6	0	2	0	1	0	1	0	2	0	2	0	0	1	3	5	0	1	6	7			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:73787086A>G	ENST00000370398.1	+	4	767	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E	KCNQ5_ENST00000342056.2_Missense_Mutation_p.K220E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.K220E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.K220E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.K220E|KCNQ5_ENST00000355635.3_Missense_Mutation_p.K220E|KCNQ5_ENST00000414165.2_Missense_Mutation_p.K220E|KCNQ5_ENST00000370392.1_Missense_Mutation_p.K220E	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	220					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)	TGTTTCTGCAAAAACTCAGGG	0.448																																					GBM(142;1375 1859 14391 23261 44706)												0													100	94	96					6																	73787086		2203	4300	6503	SO:0001583	missense	0			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.658A>G	6.37:g.73787086A>G	ENSP00000359425:p.Lys220Glu		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.K220E	ENST00000370398.1	37	c.658	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698293	0.68386	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93	5.95	5.95	0.96441	Ion transport (1);	0.105305	0.64402	D	0.000003	D	0.91566	0.7336	N	0.03154	-0.405	0.37429	D	0.913955	P;P;B;B;P;B	0.41673	0.739;0.759;0.091;0.027;0.579;0.19	P;B;B;B;B;B	0.44811	0.461;0.429;0.385;0.171;0.425;0.159	D	0.92638	0.6122	10	0.35671	T	0.21	-14.9617	10.7084	0.45969	0.9292:0.0:0.0708:0.0	.	220;220;220;220;220;220	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	E	220	ENSP00000345055:K220E;ENSP00000347326:K220E;ENSP00000359425:K220E;ENSP00000359419:K220E;ENSP00000385501:K220E;ENSP00000347853:K220E;ENSP00000384453:K220E;ENSP00000409861:K220E	ENSP00000345055:K220E	K	+	1	0	KCNQ5	73843807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.307000	0.78920	2.276000	0.75962	0.528000	0.53228	AAA	KCNQ5	-	pfam_Ion_trans_dom	ENSG00000185760		0.448	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	-	0	72	0	A	NM_019842		73787086	1	tier1	-	no_errors	ENST00000402622	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	G	G	73787086	A	G	73787086	3	3	147	1	0	0	0	0	1	0	0	0	8113	15	1	4	672	4	KCNQ5	6	73787086	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	2409287	73787086	97327981	107	37462											
C6orf167	253714	genome.wustl.edu	37	chr6	97599647	97599647	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcatattttccagttacCtaaacacagaagtcagctgg	12	11	9	9	0	1	1	1	0	0	1	2	1	2	1	2	2	3	3	2	2	5	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:97599647C>A	ENST00000275053.4	-	23	3747	c.3482G>T	c.(3481-3483)aGg>aTg	p.R1161M	MMS22L_ENST00000369251.2_Splice_Site_p.R1121M	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1161					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						TTCCAGTTACCTAAACACAGA	0.418																																																	0													173	174	173					6																	97599647		2203	4300	6503	SO:0001630	splice_region_variant	0				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.3482+1G>T	6.37:g.97599647C>A			D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1161M	ENST00000275053.4	37	c.3482	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465979	0.84425	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.35605	1.3;1.3	5.54	5.54	0.83059	.	0.048683	0.85682	D	0.000000	T	0.56031	0.1958	M	0.71581	2.175	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	T	0.59386	-0.7464	10	0.87932	D	0	-11.2124	19.4923	0.95056	0.0:1.0:0.0:0.0	.	1121;1161	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	M	1161;1121	ENSP00000275053:R1161M;ENSP00000358254:R1121M	ENSP00000275053:R1161M	R	-	2	0	MMS22L	97706368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.677000	0.68142	2.607000	0.88179	0.650000	0.86243	AGG	MMS22L	-	superfamily_ARM-type_fold	ENSG00000146263		0.418	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	-	0	97	0	C	NM_198468	Missense_Mutation	97599647	-1	tier1	-	no_errors	ENST00000275053	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A	A	97599647	C	A	97599647	5	1	147	1	0	0	0	0	0	0	1	0	2349	695	24	3	261	3	C6orf167	6	97599647	Splice_Site	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	23812561	97599647	73515420	108	37463											
ZBTB24	9841	genome.wustl.edu	37	chr6	109796645	109796645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagctgagacacatccatGaatttgcgatggcagtcttt	10	14	9	8	1	1	2	0	2	1	1	2	4	2	2	1	1	2	2	1	1	2	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:109796645G>T	ENST00000230122.3	-	5	1412	c.1245C>A	c.(1243-1245)ttC>ttA	p.F415L		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	415					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)		ACACATCCATGAATTTGCGAT	0.463																																																	0													220	180	194					6																	109796645		2203	4300	6503	SO:0001583	missense	0			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.1245C>A	6.37:g.109796645G>T	ENSP00000230122:p.Phe415Leu		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F415L	ENST00000230122.3	37	c.1245	CCDS34509.1	6	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430691	0.62844	.	.	ENSG00000112365	ENST00000230122	T	0.41065	1.01	6.17	4.39	0.52855	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	0.49218	0.1544	M	0.71036	2.16	0.40125	D	0.976641	D	0.76494	0.999	D	0.77004	0.989	T	0.55829	-0.8079	10	0.72032	D	0.01	-23.0808	8.7616	0.34678	0.2788:0.0:0.7211:0.0	.	415	O43167	ZBT24_HUMAN	L	415	ENSP00000230122:F415L	ENSP00000230122:F415L	F	-	3	2	ZBTB24	109903338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.859000	0.48364	0.921000	0.36994	0.655000	0.94253	TTC	ZBTB24	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000112365		0.463	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB24	HGNC	protein_coding	OTTHUMT00000041758.1		0	63	0	G	NM_014797		109796645	-1			no_errors	ENST00000230122	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	109796645	G	T	109796645	3	4	147	1	0	0	0	0	1	0	0	0	17579	1281	45	3	860	3	ZBTB24	6	109796645	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	12196998	109796645	61318422	109	37464											
PHF10	55274	genome.wustl.edu	37	chr6	170114892	170114892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagaactgacctttgttCgctctgttggcaaaactttg	9	14	10	8	1	1	2	0	1	1	1	2	2	1	2	1	2	2	5	1	2	4	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:170114892C>A	ENST00000339209.4	-	7	863	c.740G>T	c.(739-741)cGa>cTa	p.R247L	PHF10_ENST00000366780.4_Missense_Mutation_p.R245L|PHF10_ENST00000464779.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	247	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)		GACCTTTGTTCGCTCTGTTGG	0.408																																																	0													184	174	177					6																	170114892		2203	4300	6503	SO:0001583	missense	0			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.740G>T	6.37:g.170114892C>A	ENSP00000341805:p.Arg247Leu		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R247L	ENST00000339209.4	37	c.740	CCDS5308.2	6	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876763	0.33162	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.88201	-2.34;-2.35	5.62	5.62	0.85841	.	0.544945	0.17530	N	0.170911	T	0.71099	0.3300	N	0.12182	0.205	0.47308	D	0.999387	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.06405	0.001;0.002;0.001	T	0.65903	-0.6055	10	0.37606	T	0.19	-14.889	13.9092	0.63855	0.152:0.848:0.0:0.0	.	159;245;247	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	L	245;247	ENSP00000355743:R245L;ENSP00000341805:R247L	ENSP00000341805:R247L	R	-	2	0	PHF10	169856817	0.569000	0.26643	0.973000	0.42090	0.998000	0.95712	1.690000	0.37711	2.795000	0.96236	0.655000	0.94253	CGA	PHF10	-	NULL	ENSG00000130024		0.408	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF10	HGNC	protein_coding	OTTHUMT00000346732.1	-	0	116	0	C	NM_018288		170114892	-1	tier1	-	no_errors	ENST00000339209	ensembl	human	known	74_37	missense	5.19	72	4	SNP	0.974	A	A	170114892	C	A	170114892	3	1	147	1	0	0	0	0	1	0	0	0	11860	884	31	2	780	2	PHF10	6	170114892	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	60318247	170114892	1000175	110	37465											
UNCX	340260	genome.wustl.edu	37	chr7	1273298	1273298	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgcgcgaggcgctggcGctgcgcctagacctggtcga	5	8	15	13	6	1	1	1	0	0	1	2	3	1	1	2	3	2	2	2	3	1	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:1273298G>A	ENST00000316333.8	+	2	528	c.417G>A	c.(415-417)gcG>gcA	p.A139A		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	139					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		AGGCGCTGGCGCTGCGCCTAG	0.682																																																	0													46	49	48					7																	1273298		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"Homeoboxes / PRD class"	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.417G>A	7.37:g.1273298G>A			A4D221	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A139	ENST00000316333.8	37	c.417	CCDS34583.1	7																																																																																			UNCX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000164853		0.682	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	HGNC	protein_coding	OTTHUMT00000324910.2	-	0	180	0	G	NM_001080461		1273298	1	tier1	-	no_errors	ENST00000316333	ensembl	human	known	74_37	silent	51.61	15	16	SNP	0.998	A	A	1273298	G	A	1273298	2	1	147	1	0	0	0	0	0	0	0	1	17047	1074	38	1		1	UNCX	7	1273298	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09		1273298	157865365	111	37466											
HDAC9	9734	genome.wustl.edu	37	chr7	18788726	18788726	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gaatacagagtatctggtcaCgactgcaagaaactgggctg	13	8	12	8	1	2	2	1	0	1	2	2	4	2	2	0	2	3	3	0	2	5	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:18788726C>T	ENST00000432645.2	+	13	1999	c.1999C>T	c.(1999-2001)Cga>Tga	p.R667*	HDAC9_ENST00000401921.1_Nonsense_Mutation_p.R626*|HDAC9_ENST00000406451.4_Nonsense_Mutation_p.R667*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.R670*	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	667	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)	TATCTGGTCACGACTGCAAGA	0.438																																																	0													79	78	78					7																	18788726		1925	4151	6076	SO:0001587	stop_gained	0			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.1999C>T	7.37:g.18788726C>T	ENSP00000410337:p.Arg667*		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Nonsense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.R670*	ENST00000432645.2	37	c.2008	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.378508	0.98248	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	.	.	.	5.3	5.3	0.74995	.	0.000000	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3851	11.8523	0.52417	0.2914:0.7086:0.0:0.0	.	.	.	.	X	667;626;667;670;579	.	ENSP00000339165:R579X	R	+	1	2	HDAC9	18755251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.402000	0.44521	2.756000	0.94617	0.563000	0.77884	CGA	HDAC9	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.438	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0	63	0	C			18788726	1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	nonsense	35.29	22	12	SNP	1.000	T	T	18788726	C	T	18788726	4	4	147	1	0	0	0	0	0	1	0	0	7041	528	19	1	2109	1	HDAC9	7	18788726	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	17515428	18788726	140349937	112	37467											
ELMO1	9844	genome.wustl.edu	37	chr7	36934485	36934485	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgggactggaaatcttcCtggttcatcctctcggactg	6	11	13	11	2	3	0	1	0	2	0	6	3	5	3	2	5	0	1	2	5	1	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:36934485C>T	ENST00000310758.4	-	17	2222	c.1575G>A	c.(1573-1575)caG>caA	p.Q525Q	ELMO1_ENST00000448602.1_Silent_p.Q525Q|ELMO1_ENST00000396045.3_Silent_p.Q45Q|ELMO1_ENST00000341056.3_Silent_p.Q227Q|ELMO1_ENST00000442504.1_Silent_p.Q525Q|ELMO1_ENST00000396040.2_Silent_p.Q45Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	525					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						GGAAATCTTCCTGGTTCATCC	0.473																																																	0													142	131	135					7																	36934485		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1575G>A	7.37:g.36934485C>T			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.Q525	ENST00000310758.4	37	c.1575	CCDS5449.1	7																																																																																			ELMO1	-	NULL	ENSG00000155849		0.473	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0	144	0	C	NM_130442		36934485	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	silent	24.42	65	21	SNP	1.000	T	T	36934485	C	T	36934485	2	4	147	1	0	0	0	0	0	0	0	1	5081	680	24	3		3	ELMO1	7	36934485	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	18145759	36934485	122204178	113	37468											
INHBA	3624	genome.wustl.edu	37	chr7	41729607	41729607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactccaagccccgccgacGccggcgatgagggtggtctt	7	6	13	15	5	1	1	0	1	1	0	2	3	2	1	5	3	1	0	5	3	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:41729607G>A	ENST00000242208.4	-	3	1168	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.R308C	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	308					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCCCGCCGACGCCGGCGATGA	0.557										TSP Lung(11;0.080)																																							0													102	107	106					7																	41729607		2203	4300	6503	SO:0001583	missense	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.922C>T	7.37:g.41729607G>A	ENSP00000242208:p.Arg308Cys		Q14599	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.R308C	ENST00000242208.4	37	c.922	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	.	14.88	2.667375	0.47677	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.81078	-1.45;-1.45	5.82	3.97	0.46021	Transforming growth factor-beta, C-terminal (1);	0.169098	0.53938	D	0.000059	D	0.89252	0.6662	M	0.87269	2.87	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	D	0.90438	0.4429	10	0.87932	D	0	-20.4552	13.9132	0.63881	0.0:0.0:0.6004:0.3996	.	308	P08476	INHBA_HUMAN	C	308	ENSP00000242208:R308C;ENSP00000397197:R308C	ENSP00000242208:R308C	R	-	1	0	INHBA	41696132	0.898000	0.30612	0.799000	0.32177	0.986000	0.74619	2.807000	0.47955	0.762000	0.33152	0.484000	0.47621	CGT	INHBA	-	NULL	ENSG00000122641		0.557	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	-	0	57	0	G			41729607	-1	tier1	-	no_errors	ENST00000242208	ensembl	human	known	74_37	missense	32.65	33	16	SNP	0.992	A	A	41729607	G	A	41729607	3	1	147	1	0	0	0	0	1	0	0	0	7768	1087	38	1	362	1	INHBA	7	41729607	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	4795122	41729607	117409056	114	37469											
PSPH	5723	genome.wustl.edu	37	chr7	56088896	56088896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcttcctcagctctgagtGggagaccatcgctggaagaa	11	8	12	10	1	2	3	1	1	1	2	4	5	3	4	2	2	2	3	2	2	3	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:56088896G>T	ENST00000395471.3	-	4	815	c.10C>A	c.(10-12)Cac>Aac	p.H4N	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.H4N			P78330	SERB_HUMAN	phosphoserine phosphatase	4					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGCTCTGAGTGGGAGACCATC	0.393																																																	0													63	52	56					7																	56088896		2203	4300	6503	SO:0001583	missense	0			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.10C>A	7.37:g.56088896G>T	ENSP00000378854:p.His4Asn		B2RCR5|Q7Z3S5	Missense_Mutation	SNP	pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like	p.H4N	ENST00000395471.3	37	c.10	CCDS5522.1	7	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024972	0.35701	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312;ENST00000424596	D;D;D;T;T	0.82081	-1.57;-1.57;-1.57;-1.03;-1.03	5.5	4.6	0.57074	.	0.315505	0.34386	N	0.004015	T	0.66799	0.2826	N	0.08118	0	0.25119	N	0.990652	B;B	0.09022	0.002;0.001	B;B	0.01281	0.0;0.0	T	0.48636	-0.9018	10	0.16420	T	0.52	-5.8266	14.6423	0.68734	0.0:0.0:0.8535:0.1465	.	4;4	Q53EY1;P78330	.;SERB_HUMAN	N	4	ENSP00000275605:H4N;ENSP00000378854:H4N;ENSP00000398653:H4N;ENSP00000399660:H4N;ENSP00000390952:H4N	ENSP00000275605:H4N	H	-	1	0	PSPH	56056390	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.763000	0.74955	1.288000	0.44600	0.591000	0.81541	CAC	PSPH	-	tigrfam_SerB	ENSG00000146733		0.393	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1	-	0	72	0	G	NM_004577		56088896	-1	tier1	-	no_errors	ENST00000275605	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	56088896	G	T	56088896	3	4	147	1	0	0	0	0	1	0	0	0	12759	1348	47	3	687	3	PSPH	7	56088896	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	14359289	56088896	103049767	115	37470											
ZNF804B	219578	genome.wustl.edu	37	chr7	88847482	88847482	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaaaggattttgcagaaaAgaagtccacagcaaaggccc	16	7	9	9	0	0	2	0	0	0	2	1	3	1	3	2	2	2	2	2	2	6	3	rs534524551		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:88847482A>C	ENST00000333190.4	+	2	731	c.122A>C	c.(121-123)aAg>aCg	p.K41T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	41							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTGCAGAAAAGAAGTCCACA	0.343										HNSCC(36;0.09)																																							0													69	68	68					7																	88847482		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.122A>C	7.37:g.88847482A>C	ENSP00000329638:p.Lys41Thr		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.K41T	ENST00000333190.4	37	c.122	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941468	0.73557	.	.	ENSG00000182348	ENST00000333190	T	0.10763	2.84	5.05	5.05	0.67936	.	0.000000	0.52532	D	0.000066	T	0.17450	0.0419	N	0.24115	0.695	0.26572	N	0.973544	D	0.76494	0.999	D	0.70227	0.968	T	0.03278	-1.1053	10	0.72032	D	0.01	-12.5161	9.4583	0.38769	0.9212:0.0:0.0788:0.0	.	41	A4D1E1	Z804B_HUMAN	T	41	ENSP00000329638:K41T	ENSP00000329638:K41T	K	+	2	0	ZNF804B	88685418	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.185000	0.72013	2.121000	0.65114	0.397000	0.26171	AAG	ZNF804B	-	NULL	ENSG00000182348		0.343	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	61	0	A	NM_181646		88847482	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	34.12	56	29	SNP	1.000	C	C	88847482	A	C	88847482	3	2	147	1	0	0	0	0	1	0	0	0	18219	72	3	4	128	4	ZNF804B	7	88847482	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	32758586	88847482	70291181	116	37471											
SAMD9L	219285	genome.wustl.edu	37	chr7	92761642	92761642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attttctttgtggaaaaaggGagtgagctgaagaatctgga	13	12	13	3	0	2	3	0	2	2	1	2	6	2	6	0	3	1	1	0	3	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:92761642G>T	ENST00000318238.4	-	5	4859	c.3643C>A	c.(3643-3645)Ccc>Acc	p.P1215T	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P1215T|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P1215T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1215					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGAAAAAGGGAGTGAGCTGA	0.373																																																	0													108	102	104					7																	92761642		2203	4299	6502	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3643C>A	7.37:g.92761642G>T	ENSP00000326247:p.Pro1215Thr		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.P1215T	ENST00000318238.4	37	c.3643	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	G	12.64	2.000068	0.35320	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.26373	1.74;1.74;1.74	4.77	2.93	0.34026	.	0.073163	0.56097	D	0.000039	T	0.28001	0.0690	M	0.69823	2.125	0.21967	N	0.999442	B	0.24186	0.099	B	0.25884	0.064	T	0.28902	-1.0029	10	0.66056	D	0.02	-8.4884	9.9233	0.41476	0.0775:0.0:0.7808:0.1417	.	1215	Q8IVG5	SAM9L_HUMAN	T	1215	ENSP00000326247:P1215T;ENSP00000405760:P1215T;ENSP00000408796:P1215T	ENSP00000326247:P1215T	P	-	1	0	SAMD9L	92599578	0.662000	0.27439	0.961000	0.40146	0.639000	0.38242	2.298000	0.43602	1.345000	0.45676	-0.518000	0.04402	CCC	SAMD9L	-	NULL	ENSG00000177409		0.373	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0	55	0	G	NM_152703		92761642	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	25.81	46	16	SNP	0.387	T	T	92761642	G	T	92761642	3	4	147	1	0	0	0	0	1	0	0	0	13872	1174	41	3	1115	3	SAMD9L	7	92761642	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	3914160	92761642	66377021	117	37472											
ZAN	7455	genome.wustl.edu	37	chr7	100355875	100355875	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagaacattgccgctgctgGcccggcagtcgggtcgagtg	7	7	15	12	4	0	1	0	0	0	1	2	2	0	1	2	3	3	3	2	3	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:100355875G>T	ENST00000348028.3	+	0	3525				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_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)			GCCGCTGCTGGCCCGGCAGTC	0.582																																																	0													35	39	38					7																	100355875		2074	4213	6287			0			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.100355875G>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.W1120C	ENST00000348028.3	37	c.3360		7	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694109	0.30052	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.04809	3.55;3.55;3.55	4.21	-0.177	0.13307	.	2.318670	0.01779	N	0.031677	T	0.10035	0.0246	L	0.44542	1.39	0.09310	N	0.999999	D;D	0.56746	0.972;0.977	P;P	0.54924	0.652;0.764	T	0.15065	-1.0450	10	0.54805	T	0.06	.	3.6591	0.08232	0.3057:0.0:0.5249:0.1694	.	1120;1120	F5H0T8;Q9Y493	.;ZAN_HUMAN	C	1120	ENSP00000445943:W1120C;ENSP00000445091:W1120C;ENSP00000444427:W1120C	ENSP00000423579:W1120C	W	+	3	0	ZAN	100193811	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.181000	0.16880	-0.028000	0.13850	0.655000	0.94253	TGG	ZAN	-	smart_VWC_out	ENSG00000146839		0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1		0	107	0	G	NM_003386		100355875	1			no_errors	ENST00000546292	ensembl	human	known	74_37	missense	5.33	70	4	SNP	0.000	T	T	100355875	G	T	100355875	1	4	147	0	1	0	0	0	0	0	0	0	17562	1212	42	3		3	ZAN	7	100355875	RNA	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	7594233	100355875	58782788	118	37473											
ZNF277	11179	genome.wustl.edu	37	chr7	111970249	111970249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaacagagaatatgacaGattttatgtcatcaattatt	17	14	6	4	0	2	4	2	1	0	3	2	5	2	4	0	0	1	0	0	0	7	6			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:111970249G>T	ENST00000361822.3	+	7	908	c.779G>T	c.(778-780)aGa>aTa	p.R260I	ZNF277_ENST00000450657.1_Missense_Mutation_p.R260I|AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	260					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GAATATGACAGATTTTATGTC	0.318																																																	0													90	90	90					7																	111970249		2202	4299	6501	SO:0001583	missense	0			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.779G>T	7.37:g.111970249G>T	ENSP00000354501:p.Arg260Ile		Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R260I	ENST00000361822.3	37	c.779	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050794	0.75960	.	.	ENSG00000198839	ENST00000361822;ENST00000425229;ENST00000450657	T;T;T	0.44083	0.93;0.93;0.93	6.17	3.43	0.39272	.	0.117394	0.64402	D	0.000015	T	0.56307	0.1976	M	0.73962	2.25	0.80722	D	1	P;D	0.54601	0.917;0.967	P;P	0.57371	0.745;0.819	T	0.59139	-0.7510	10	0.56958	D	0.05	-5.5732	10.8838	0.46955	0.2536:0.0:0.7464:0.0	.	260;260	Q9NRM2;G5E9M4	ZN277_HUMAN;.	I	260;172;260	ENSP00000354501:R260I;ENSP00000390359:R172I;ENSP00000402292:R260I	ENSP00000354501:R260I	R	+	2	0	ZNF277	111757485	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.200000	0.42724	0.951000	0.37770	-0.136000	0.14681	AGA	ZNF277	-	NULL	ENSG00000198839		0.318	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2	-	0	28	0	G	NM_021994		111970249	1	tier1	-	no_errors	ENST00000361822	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	111970249	G	T	111970249	3	4	147	1	0	0	0	0	1	0	0	0	17860	942	33	3	805	3	ZNF277	7	111970249	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	11614374	111970249	47168414	119	37474											
TES	26136	genome.wustl.edu	37	chr7	115892525	115892525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctatgtgaagaatcacGctgtggtgagaagtgttcta	10	12	12	7	1	2	3	1	2	1	2	2	4	2	3	1	1	1	3	1	1	5	3	rs142549105		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:115892525G>T	ENST00000358204.4	+	6	1287	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	TES_ENST00000537767.1_Missense_Mutation_p.A116S|TES_ENST00000393481.2_Missense_Mutation_p.A349S|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	358	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GAAGAATCACGCTGTGGTGAG	0.453																																																	0													150	138	142					7																	115892525		2203	4300	6503	SO:0001583	missense	0			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.1072G>T	7.37:g.115892525G>T	ENSP00000350937:p.Ala358Ser		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A358S	ENST00000358204.4	37	c.1072	CCDS5763.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.180059	0.94846	.	.	ENSG00000135269	ENST00000358204;ENST00000537767;ENST00000257721;ENST00000393481	D;D;D	0.87966	-2.32;-2.32;-2.32	5.5	5.5	0.81552	Zinc finger, LIM-type (2);	0.000000	0.64402	D	0.000001	D	0.88396	0.6425	M	0.67625	2.065	0.80722	D	1	P	0.46512	0.879	B	0.43783	0.431	D	0.89008	0.3426	10	0.54805	T	0.06	-13.0715	19.75	0.96263	0.0:0.0:1.0:0.0	.	358	Q9UGI8	TES_HUMAN	S	358;116;358;349	ENSP00000350937:A358S;ENSP00000441607:A116S;ENSP00000377121:A349S	ENSP00000257721:A358S	A	+	1	0	TES	115679761	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.920000	0.87521	2.749000	0.94314	0.655000	0.94253	GCT	TES	-	pfscan_Znf_LIM	ENSG00000135269		0.453	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	HGNC	protein_coding	OTTHUMT00000059413.2	-	0	98	0	G	NM_015641		115892525	1	tier1	-	no_errors	ENST00000358204	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	115892525	G	T	115892525	3	4	147	1	0	0	0	0	1	0	0	0	15812	1087	38	2	1094	2	TES	7	115892525	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	3922276	115892525	43246138	120	37475											
ING3	54556	genome.wustl.edu	37	chr7	120593360	120593360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttattatgtcatagatGcaatggatcaactagaacaa	15	15	6	5	0	2	2	2	0	0	2	2	3	2	3	0	1	3	1	0	1	8	6			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:120593360G>T	ENST00000315870.5	+	3	251	c.103G>T	c.(103-105)Gca>Tca	p.A35S	ING3_ENST00000339121.5_Missense_Mutation_p.A35S|ING3_ENST00000445699.1_Missense_Mutation_p.A35S|ING3_ENST00000431467.1_Missense_Mutation_p.A20S	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	35					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TGTCATAGATGCAATGGATCA	0.308																																																	0													83	90	88					7																	120593360		2203	4298	6501	SO:0001583	missense	0			AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"Zinc fingers, PHD-type"	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.103G>T	7.37:g.120593360G>T	ENSP00000320566:p.Ala35Ser		A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A35S	ENST00000315870.5	37	c.103	CCDS5778.1	7	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774345	0.69992	.	.	ENSG00000071243	ENST00000315870;ENST00000339121;ENST00000445699;ENST00000431467	D;D	0.95137	-3.62;-3.6	5.87	5.87	0.94306	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	N	0.05124	-0.11	0.80722	D	1	B;D;D;B;B	0.69078	0.013;0.997;0.992;0.01;0.009	B;D;D;B;B	0.80764	0.008;0.994;0.989;0.009;0.021	D	0.91201	0.4991	10	0.18276	T	0.48	-25.3112	19.3531	0.94398	0.0:0.0:1.0:0.0	.	35;35;35;35;35	B7ZKQ7;Q5GRH6;Q9NXR8;Q9NXR8-2;C9JUT0	.;.;ING3_HUMAN;.;.	S	35;35;35;20	ENSP00000320566:A35S;ENSP00000388506:A20S	ENSP00000320566:A35S	A	+	1	0	ING3	120380596	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.366000	0.97143	2.941000	0.99782	0.655000	0.94253	GCA	ING3	-	NULL	ENSG00000071243		0.308	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING3	HGNC	protein_coding	OTTHUMT00000280453.2	-	0	29	0	G	NM_019071		120593360	1	tier1	-	no_errors	ENST00000315870	ensembl	human	known	74_37	missense	6.45	57	4	SNP	1.000	T	T	120593360	G	T	120593360	3	4	147	1	0	0	0	0	1	0	0	0	7764	1319	46	3	113	3	ING3	7	120593360	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	4700835	120593360	38545303	121	37476											
KIAA1549	57670	genome.wustl.edu	37	chr7	138554434	138554434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccgggaactcgtagtgcccgCggcgcttggcgcgcaggcgg	4	5	18	14	8	0	0	0	0	0	0	1	1	0	1	2	5	2	3	2	5	2	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:138554434C>T	ENST00000422774.1	-	14	4673	c.4625G>A	c.(4624-4626)cGc>cAc	p.R1542H	KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1492H|KIAA1549_ENST00000440172.1_Missense_Mutation_p.R1542H			Q9HCM3	K1549_HUMAN	KIAA1549	1542						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTAGTGCCCGCGGCGCTTGGC	0.617			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													37	46	43					7																	138554434		2040	4193	6233	SO:0001583	missense	0				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.4625G>A	7.37:g.138554434C>T	ENSP00000416040:p.Arg1542His		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.R1542H	ENST00000422774.1	37	c.4625	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364737	0.82463	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.28666	1.6;1.61;1.61	5.23	5.23	0.72850	.	0.049447	0.85682	D	0.000000	T	0.42359	0.1199	L	0.40543	1.245	0.35438	D	0.794645	D;D;D;D	0.89917	1.0;0.997;1.0;0.997	D;P;D;P	0.77004	0.989;0.823;0.982;0.823	T	0.54853	-0.8231	10	0.87932	D	0	.	7.6424	0.28300	0.0:0.8199:0.0:0.1801	.	1542;326;1542;326	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	H	1542;1492;1542	ENSP00000406661:R1542H;ENSP00000242365:R1492H;ENSP00000416040:R1542H	ENSP00000242365:R1492H	R	-	2	0	KIAA1549	138204974	1.000000	0.71417	0.989000	0.46669	0.588000	0.36517	5.802000	0.69122	2.431000	0.82371	0.655000	0.94253	CGC	KIAA1549	-	NULL	ENSG00000122778		0.617	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	-	0	53	0	C			138554434	-1	tier1	-	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.996	T	T	138554434	C	T	138554434	3	4	147	1	0	0	0	0	1	0	0	0	8271	768	27	1	1255	1	KIAA1549	7	138554434	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	17961074	138554434	20584229	122	37477											
CLEC2L	154790	genome.wustl.edu	37	chr7	139221067	139221067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgcggtccttctgttcGccatcttggtggtgatgagc	4	13	12	12	3	2	2	0	2	2	0	5	2	3	2	3	3	1	1	3	3	0	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:139221067G>T	ENST00000422142.2	+	2	310	c.238G>T	c.(238-240)Gcc>Tcc	p.A80S		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	80						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A80T(1)		NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					CCTTCTGTTCGCCATCTTGGT	0.527																																																	1	Substitution - Missense(1)	endometrium(1)											191	153	165					7																	139221067		692	1591	2283	SO:0001583	missense	0			AK057548	CCDS47724.1	7q34	2011-05-18			ENSG00000236279	ENSG00000236279		"C-type lectin domain containing"	21969	protein-coding gene	gene with protein product							Standard	NM_001080511		Approved	FLJ32986	uc010lnd.3	P0C7M8	OTTHUMG00000164900	ENST00000422142.2:c.238G>T	7.37:g.139221067G>T	ENSP00000390661:p.Ala80Ser			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.A80S	ENST00000422142.2	37	c.238	CCDS47724.1	7	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056678	0.55325	.	.	ENSG00000236279	ENST00000422142	T	0.16073	2.37	4.09	4.09	0.47781	.	.	.	.	.	T	0.10895	0.0266	N	0.21508	0.67	0.30026	N	0.813885	B	0.24483	0.104	B	0.17722	0.019	T	0.10567	-1.0624	9	0.12766	T	0.61	.	11.6587	0.51334	0.0:0.0:1.0:0.0	.	80	P0C7M8	CLC2L_HUMAN	S	80	ENSP00000390661:A80S	ENSP00000390661:A80S	A	+	1	0	CLEC2L	138871607	0.998000	0.40836	0.997000	0.53966	0.896000	0.52359	4.071000	0.57556	2.106000	0.64143	0.511000	0.50034	GCC	CLEC2L	-	NULL	ENSG00000236279		0.527	CLEC2L-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CLEC2L	HGNC	protein_coding	OTTHUMT00000380878.1	-	0	78	0	G	NM_001080511		139221067	1	tier1	-	no_errors	ENST00000422142	ensembl	human	novel	74_37	missense	7.41	50	4	SNP	0.999	T	T	139221067	G	T	139221067	3	4	147	1	0	0	0	0	1	0	0	0	3516	1087	38	2	244	2	CLEC2L	7	139221067	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	666633	139221067	19917596	123	37478											
PIP	5304	genome.wustl.edu	37	chr7	142832372	142832372	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcttgcagttcaaacaGaattgaaagaatgcatggtg	14	10	11	6	0	1	3	1	1	0	2	1	3	1	3	0	1	4	4	0	1	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:142832372G>T	ENST00000291009.3	+	2	221	c.181G>T	c.(181-183)Gaa>Taa	p.E61*		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	61					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.E61*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AGTTCAAACAGAATTGAAAGA	0.378																																																	1	Substitution - Nonsense(1)	large_intestine(1)											59	54	56					7																	142832372		2203	4299	6502	SO:0001587	stop_gained	0				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"prolactin-inducible protein"	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.181G>T	7.37:g.142832372G>T	ENSP00000291009:p.Glu61*		A0A963|A0A9C3|A0A9F3|A4D2I1	Nonsense_Mutation	SNP	pfam_SV_autoAg,pirsf_SV_autoAg	p.E61*	ENST00000291009.3	37	c.181	CCDS34768.1	7	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312045	0.40895	.	.	ENSG00000159763	ENST00000291009	.	.	.	4.55	-0.609	0.11608	.	0.979395	0.08363	N	0.957405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	4.501	0.11863	0.2837:0.3277:0.3886:0.0	.	.	.	.	X	61	.	ENSP00000291009:E61X	E	+	1	0	PIP	142542494	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.735000	0.04888	-0.215000	0.10063	-0.142000	0.14014	GAA	PIP	-	pfam_SV_autoAg,pirsf_SV_autoAg	ENSG00000159763		0.378	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP	HGNC	protein_coding	OTTHUMT00000327089.1	-	0	61	0	G	NM_002652		142832372	1	tier1	-	no_errors	ENST00000291009	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	0.000	T	T	142832372	G	T	142832372	4	4	147	1	0	0	0	0	0	1	0	0	11974	943	33	3	187	3	PIP	7	142832372	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	3611305	142832372	16306291	124	37479											
ASB10	136371	genome.wustl.edu	37	chr7	150883938	150883938	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcggaaatccctccatcGctctgggtcgctggtatcaa	9	9	11	12	3	2	0	1	0	1	0	6	2	4	1	2	3	1	3	2	3	4	1	rs532203636		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:150883938G>T	ENST00000420175.2	-	1	304	c.280C>A	c.(280-282)Cga>Aga	p.R94R	ASB10_ENST00000434669.1_Silent_p.R139R|ASB10_ENST00000275838.1_Silent_p.R94R|ASB10_ENST00000377867.3_Intron|ASB10_ENST00000422024.1_Silent_p.R139R			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	94			R -> Q (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R94R(2)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCTCCATCGCTCTGGGTCG	0.642																																																	2	Substitution - coding silent(2)	lung(2)											36	38	37					7																	150883938		2203	4300	6503	SO:0001819	synonymous_variant	0			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.280C>A	7.37:g.150883938G>T			A0AVH0|Q6ZUL6	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.R139	ENST00000420175.2	37	c.415	CCDS47750.2	7																																																																																			ASB10	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000146926		0.642	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3		0	76	0	G	NM_080871		150883938	-1			no_errors	ENST00000422024	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	T	T	150883938	G	T	150883938	2	4	147	1	0	0	0	0	0	0	0	1	1015	1095	38	2		2	ASB10	7	150883938	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	8051566	150883938	8254725	125	37480											
DPP6	1804	genome.wustl.edu	37	chr7	154564561	154564561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttaatccccaggctggaAgtgagaaccccagcatttcc	10	11	8	12	0	0	1	0	1	0	1	2	3	2	2	5	2	2	2	5	2	3	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:154564561A>G	ENST00000377770.3	+	10	1186	c.1045A>G	c.(1045-1047)Agt>Ggt	p.S349G	DPP6_ENST00000332007.3_Missense_Mutation_p.S287G|DPP6_ENST00000404039.1_Missense_Mutation_p.S285G|DPP6_ENST00000427557.1_Missense_Mutation_p.S242G			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	349					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)			CCAGGCTGGAAGTGAGAACCC	0.502																																					NSCLC(125;1384 1783 2490 7422 34254)												0													94	87	89					7																	154564561		1925	4133	6058	SO:0001583	missense	0			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.1045A>G	7.37:g.154564561A>G	ENSP00000367001:p.Ser349Gly			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.S349G	ENST00000377770.3	37	c.1045		7	.	.	.	.	.	.	.	.	.	.	A	9.840	1.190766	0.21954	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.99	2.55	0.30701	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.684929	0.15668	N	0.250541	T	0.33760	0.0874	M	0.70275	2.135	0.19775	N	0.999955	B;P;P;P	0.37122	0.254;0.528;0.583;0.583	B;B;B;B	0.38020	0.263;0.049;0.109;0.13	T	0.12578	-1.0542	10	0.51188	T	0.08	-7.0185	10.3818	0.44117	0.5841:0.0:0.0:0.4159	.	242;287;349;285	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	G	285;349;287;242	ENSP00000385578:S285G;ENSP00000367001:S349G;ENSP00000328226:S287G;ENSP00000397303:S242G	ENSP00000328226:S287G	S	+	1	0	DPP6	154195494	0.982000	0.34865	0.920000	0.36463	0.610000	0.37248	2.142000	0.42177	0.230000	0.21059	-0.339000	0.08088	AGT	DPP6	-	pfam_Peptidase_S9B	ENSG00000130226		0.502	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	-	0	68	0	A	NM_130797		154564561	1	tier1	-	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.341	G	G	154564561	A	G	154564561	3	3	147	1	0	0	0	0	1	0	0	0	4744	72	3	4	1199	4	DPP6	7	154564561	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	3680623	154564561	4574102	126	37481											
CSMD1	64478	genome.wustl.edu	37	chr8	2800061	2800061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaggaaccagaatggcagCcgccacagagccactgctgg	13	3	13	12	1	0	2	0	0	0	2	0	4	0	3	4	3	4	2	4	3	3	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:2800061C>T	ENST00000520002.1	-	70	11026	c.10471G>A	c.(10471-10473)Gct>Act	p.A3491T	CSMD1_ENST00000602723.1_Missense_Mutation_p.A3314T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A3314T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A3313T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A3491T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A3490T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3491						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)		AGAATGGCAGCCGCCACAGAG	0.408																																																	0													28	35	33					8																	2800061		1863	4098	5961	SO:0001583	missense	0					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.10471G>A	8.37:g.2800061C>T	ENSP00000430733:p.Ala3491Thr		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A3491T	ENST00000520002.1	37	c.10471		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.04|18.04	3.534954|3.534954	0.64972|0.64972	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.32753|.	1.44;1.62;1.64;1.45|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74382|0.74382	0.3709|0.3709	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.996;0.997|.	P;P;D|.	0.70716|.	0.863;0.858;0.97|.	T|T	0.71258|0.71258	-0.4646|-0.4646	10|5	0.37606|.	T|.	0.19|.	.|.	19.7363|19.7363	0.96205|0.96205	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3491;3491;3313|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	T|D	3314;3491;3352;3490;3313|2892	ENSP00000383047:A3314T;ENSP00000430733:A3491T;ENSP00000441462:A3490T;ENSP00000446243:A3313T|.	ENSP00000320445:A3352T|.	A|G	-|-	1|2	0|0	CSMD1|CSMD1	2787468|2787468	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.958000|0.958000	0.62258|0.62258	4.747000|4.747000	0.62141|0.62141	2.657000|2.657000	0.90304|0.90304	0.637000|0.637000	0.83480|0.83480	GCT|GGC	CSMD1	-	NULL	ENSG00000183117		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	102	0	C	NM_033225		2800061	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	2800061	C	T	2800061	3	4	147	1	0	0	0	0	1	0	0	0	3953	739	26	3	234	3	CSMD1	8	2800061	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09		2800061	143563961	127	37482											
VPS37A	137492	genome.wustl.edu	37	chr8	17132397	17132397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcataccacagccaagcCtgccgctccttcatttggtg	9	10	8	14	1	2	0	2	0	0	0	3	0	3	0	5	1	4	1	5	1	3	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:17132397C>G	ENST00000324849.4	+	5	1246	c.572C>G	c.(571-573)cCt>cGt	p.P191R	VPS37A_ENST00000521829.1_Missense_Mutation_p.P166R	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	191					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)		ACAGCCAAGCCTGCCGCTCCT	0.438																																																	0													133	119	124					8																	17132397		2203	4300	6503	SO:0001583	missense	0				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.572C>G	8.37:g.17132397C>G	ENSP00000318629:p.Pro191Arg		Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD	p.P191R	ENST00000324849.4	37	c.572	CCDS6001.1	8	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802075	0.50315	.	.	ENSG00000155975	ENST00000324849;ENST00000521829	T;T	0.61274	0.12;0.23	4.25	4.25	0.50352	.	0.483409	0.22876	N	0.054580	T	0.55146	0.1902	L	0.44542	1.39	0.80722	D	1	D;P	0.53151	0.958;0.93	P;B	0.45506	0.483;0.289	T	0.56565	-0.7958	10	0.35671	T	0.21	-8.3031	18.0187	0.89249	0.0:1.0:0.0:0.0	.	166;191	Q8NEZ2-2;Q8NEZ2	.;VP37A_HUMAN	R	191;166	ENSP00000318629:P191R;ENSP00000429680:P166R	ENSP00000318629:P191R	P	+	2	0	VPS37A	17176768	0.980000	0.34600	0.610000	0.28997	0.710000	0.40934	3.302000	0.51849	2.667000	0.90743	0.579000	0.79373	CCT	VPS37A	-	NULL	ENSG00000155975		0.438	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37A	HGNC	protein_coding	OTTHUMT00000253301.2	-	0	51	0	C	NM_152415		17132397	1	tier1	-	no_errors	ENST00000324849	ensembl	human	known	74_37	missense	71.74	13	33	SNP	0.972	G	G	17132397	C	G	17132397	3	3	147	1	0	0	0	0	1	0	0	0	17254	681	24	5	590	5	VPS37A	8	17132397	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	14332336	17132397	129231625	128	37483											
HMBOX1	79618	genome.wustl.edu	37	chr8	28827691	28827691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttggaaactttggaccGtcttgatcaagagcatagtg	10	12	11	8	1	2	2	1	1	1	1	2	4	2	4	2	2	3	1	2	2	3	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:28827691G>A	ENST00000397358.3	+	4	859	c.155G>A	c.(154-156)cGt>cAt	p.R52H	HMBOX1_ENST00000524238.1_Missense_Mutation_p.R52H|HMBOX1_ENST00000523613.1_Missense_Mutation_p.R52H|HMBOX1_ENST00000519047.1_Missense_Mutation_p.R52H|HMBOX1_ENST00000355231.5_Missense_Mutation_p.R52H|HMBOX1_ENST00000403668.2_Missense_Mutation_p.R52H|HMBOX1_ENST00000444075.1_Missense_Mutation_p.R52H|HMBOX1_ENST00000287701.10_Missense_Mutation_p.R52H|HMBOX1_ENST00000558662.1_Missense_Mutation_p.R52H	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	52					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		ACTTTGGACCGTCTTGATCAA	0.438																																																	0													119	109	113					8																	28827691		2203	4300	6503	SO:0001583	missense	0			AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"Homeoboxes / HNF class"	26137	protein-coding gene	gene with protein product	"homeobox telomere-binding protein 1"					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.155G>A	8.37:g.28827691G>A	ENSP00000380516:p.Arg52His		A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R52H	ENST00000397358.3	37	c.155	CCDS6071.1	8	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883550	0.72410	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519662;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.94	5.62	5.62	0.85841	Hepatocyte nuclear factor 1, N-terminal (1);	0.171080	0.53938	D	0.000054	T	0.51483	0.1677	L	0.59436	1.845	0.58432	D	0.999999	B;P;B;B;B;P	0.35411	0.445;0.5;0.445;0.14;0.011;0.5	B;B;B;B;B;B	0.28916	0.058;0.096;0.058;0.014;0.005;0.057	T	0.56974	-0.7890	10	0.72032	D	0.01	-5.7914	19.6604	0.95864	0.0:0.0:1.0:0.0	.	52;52;52;52;52;52	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	H	52	ENSP00000287701:R52H;ENSP00000401769:R52H;ENSP00000384261:R52H;ENSP00000429767:R52H;ENSP00000430059:R52H;ENSP00000380516:R52H;ENSP00000430110:R52H;ENSP00000430677:R52H	ENSP00000287701:R52H	R	+	2	0	HMBOX1	28883610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.218000	0.65257	2.648000	0.89879	0.655000	0.94253	CGT	HMBOX1	-	pfam_HNF-1_N	ENSG00000147421		0.438	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HMBOX1	HGNC	protein_coding	OTTHUMT00000255267.4	-	0	46	0	G	NM_024567		28827691	1	tier1	-	no_errors	ENST00000444075	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	A	A	28827691	G	A	28827691	3	1	147	1	0	0	0	0	1	0	0	0	7245	1145	40	1	161	1	HMBOX1	8	28827691	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	11695294	28827691	117536331	129	37484											
KCNU1	157855	genome.wustl.edu	37	chr8	36692334	36692334	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	cagaggcatgcctgattataGccaatcctttgtgcagtgat	10	12	10	9	0	0	3	0	2	0	1	1	3	1	3	3	1	3	2	3	1	3	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:36692334G>C	ENST00000399881.3	+	12	1280	c.1243G>C	c.(1243-1245)Gcc>Ccc	p.A415P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	415	RCK N-terminal.				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)		CCTGATTATAGCCAATCCTTT	0.418																																																	0													126	123	124					8																	36692334		1887	4120	6007	SO:0001583	missense	0			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.1243G>C	8.37:g.36692334G>C	ENSP00000382770:p.Ala415Pro			Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.A415P	ENST00000399881.3	37	c.1243	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306341	0.81247	.	.	ENSG00000215262	ENST00000399881	T	0.70749	-0.51	5.9	5.9	0.94986	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.000000	0.37761	U	0.001956	D	0.83774	0.5327	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84395	0.0557	10	0.87932	D	0	-5.8033	18.8427	0.92190	0.0:0.0:1.0:0.0	.	415	A8MYU2	KCNU1_HUMAN	P	415	ENSP00000382770:A415P	ENSP00000382770:A415P	A	+	1	0	KCNU1	36811492	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	8.882000	0.92420	2.788000	0.95919	0.650000	0.86243	GCC	KCNU1	-	prints_K_chnl_Ca-activ_BK_asu	ENSG00000215262		0.418	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0	55	0	G	NM_001031836		36692334	1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	missense	22.41	45	13	SNP	1.000	C	C	36692334	G	C	36692334	3	2	147	1	0	0	0	0	1	0	0	0	8120	971	34	5	1289	5	KCNU1	8	36692334	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	7864643	36692334	109671688	130	37485											
ADAM2	2515	genome.wustl.edu	37	chr8	39624391	39624391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaaatgtgtctgtacattGtttatccccactcatacaaa	12	13	5	11	0	2	0	1	0	1	0	3	0	3	0	3	0	2	2	3	0	5	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:39624391G>T	ENST00000265708.4	-	14	1586	c.1483C>A	c.(1483-1485)Caa>Aaa	p.Q495K	ADAM2_ENST00000347580.4_Missense_Mutation_p.Q476K|ADAM2_ENST00000379853.2_Missense_Mutation_p.Q369K|ADAM2_ENST00000521880.1_Missense_Mutation_p.Q495K	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	495	Cys-rich.				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)		TCTGTACATTGTTTATCCCCA	0.373																																																	0													138	136	137					8																	39624391		2203	4300	6503	SO:0001583	missense	0			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.1483C>A	8.37:g.39624391G>T	ENSP00000265708:p.Gln495Lys		P78326|Q9UQQ8	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q495K	ENST00000265708.4	37	c.1483	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080884	0.55753	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.27	4.38	0.52667	ADAM, cysteine-rich (2);	.	.	.	.	T	0.64427	0.2597	H	0.94345	3.525	0.18873	N	0.999988	D;D;D;D	0.69078	0.983;0.997;0.99;0.992	D;D;D;D	0.70227	0.943;0.938;0.947;0.968	T	0.61623	-0.7025	8	.	.	.	.	11.507	0.50472	0.0:0.0:0.8205:0.1795	.	495;369;476;495	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	K	476;369;495;495	ENSP00000343854:Q476K;ENSP00000369182:Q369K;ENSP00000265708:Q495K;ENSP00000429352:Q495K	.	Q	-	1	0	ADAM2	39743548	0.999000	0.42202	0.173000	0.22940	0.004000	0.04260	4.715000	0.61909	1.332000	0.45431	0.655000	0.94253	CAA	ADAM2	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000104755		0.373	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	HGNC	protein_coding	OTTHUMT00000376926.1	-	0	48	0	G	NM_001464		39624391	-1	tier1	-	no_errors	ENST00000265708	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.542	T	T	39624391	G	T	39624391	3	4	147	1	0	0	0	0	1	0	0	0	241	1386	48	3	752	3	ADAM2	8	39624391	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2932057	39624391	106739631	131	37486											
CHRNA6	8973	genome.wustl.edu	37	chr8	42612091	42612091	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttatagagaacaatgtcGggcttccaaatcttatctgc	11	14	8	8	1	2	1	0	0	2	1	4	2	3	1	1	1	2	2	1	1	6	5	rs201576802		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:42612091G>T	ENST00000276410.2	-	4	709	c.354C>A	c.(352-354)ccC>ccA	p.P118P	CHRNA6_ENST00000534622.1_Silent_p.P103P|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	118					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GAACAATGTCGGGCTTCCAAA	0.423																																																	0													103	104	104					8																	42612091		2203	4300	6503	SO:0001819	synonymous_variant	0			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.354C>A	8.37:g.42612091G>T			B2R8V4|B4DQH1	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P118	ENST00000276410.2	37	c.354	CCDS6135.1	8																																																																																			CHRNA6	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000147434		0.423	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA6	HGNC	protein_coding	OTTHUMT00000383156.1		0	92	0	G			42612091	-1			no_errors	ENST00000276410	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.992	T	T	42612091	G	T	42612091	2	4	147	1	0	0	0	0	0	0	0	1	3394	1103	39	2		2	CHRNA6	8	42612091	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2987700	42612091	103751931	132	37487											
TRPA1	8989	genome.wustl.edu	37	chr8	72948523	72948523	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattcaagcttgttttacCtttgaagatacaataagaaa	17	14	5	5	0	1	3	1	1	0	2	1	3	1	3	1	0	3	2	1	0	8	8			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:72948523C>A	ENST00000262209.4	-	21	2762	c.2555G>T	c.(2554-2556)aGa>aTa	p.R852I	RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	852					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTTGTTTTACCTTTGAAGATA	0.333																																																	0													50	51	51					8																	72948523		2203	4300	6503	SO:0001630	splice_region_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2555+1G>T	8.37:g.72948523C>A			A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R852I	ENST00000262209.4	37	c.2555	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674140	0.67928	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.35973	1.28;1.28	4.94	4.94	0.65067	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74315	-0.3705	9	.	.	.	-22.8035	18.5095	0.90910	0.0:1.0:0.0:0.0	.	852	O75762	TRPA1_HUMAN	I	704;852	ENSP00000428151:R704I;ENSP00000262209:R852I	.	R	-	2	0	TRPA1	73111077	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	5.706000	0.68362	2.437000	0.82529	0.591000	0.81541	AGA	TRPA1	-	pfam_Ion_trans_dom	ENSG00000104321		0.333	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2		0	79	0	C	NM_007332	Missense_Mutation	72948523	-1			no_errors	ENST00000262209	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A	A	72948523	C	A	72948523	5	1	147	1	0	0	0	0	0	0	1	0	16625	695	24	3	832	3	TRPA1	8	72948523	Splice_Site	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	30336432	72948523	73415499	133	37488											
GDAP1	54332	genome.wustl.edu	37	chr8	75263518	75263518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aactcttccaggtgcgcttgGtaattgctgaaaaggcattg	10	12	11	8	1	1	1	0	1	1	0	2	1	2	1	1	3	3	4	1	3	4	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:75263518G>T	ENST00000220822.7	+	2	207	c.127G>T	c.(127-129)Gta>Tta	p.V43L	CTD-2320G14.2_ENST00000521872.1_RNA|GDAP1_ENST00000434412.2_Intron|GDAP1_ENST00000521096.1_Intron	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	43	GST N-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)			GGTGCGCTTGGTAATTGCTGA	0.463																																																	0													255	215	228					8																	75263518		2203	4300	6503	SO:0001583	missense	0				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.127G>T	8.37:g.75263518G>T	ENSP00000220822:p.Val43Leu		A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.V43L	ENST00000220822.7	37	c.127	CCDS34911.1	8	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903585	0.92035	.	.	ENSG00000104381	ENST00000220822	T	0.24723	1.84	4.93	4.93	0.64822	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.135640	0.49916	D	0.000138	T	0.34395	0.0896	L	0.41632	1.29	0.80722	D	1	B	0.30361	0.277	B	0.43194	0.411	T	0.20140	-1.0284	10	0.54805	T	0.06	-20.1698	18.3263	0.90255	0.0:0.0:1.0:0.0	.	43	Q8TB36	GDAP1_HUMAN	L	43	ENSP00000220822:V43L	ENSP00000220822:V43L	V	+	1	0	GDAP1	75426073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.191000	0.94940	2.562000	0.86427	0.655000	0.94253	GTA	GDAP1	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold	ENSG00000104381		0.463	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP1	HGNC	protein_coding	OTTHUMT00000379061.1	-	0	111	0	G	NM_018972		75263518	1	tier1	-	no_errors	ENST00000220822	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	T	T	75263518	G	T	75263518	3	4	147	1	0	0	0	0	1	0	0	0	6332	1261	44	3	133	3	GDAP1	8	75263518	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2314995	75263518	71100504	134	37489											
CALB1	793	genome.wustl.edu	37	chr8	91072859	91072859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatggtaactaagttacctGtttattcttctcgcacagat	10	15	6	10	1	2	1	0	0	2	1	3	1	2	1	2	1	2	4	2	1	4	7			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:91072859G>T	ENST00000265431.3	-	10	851	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	CALB1_ENST00000518457.1_Missense_Mutation_p.Q167K	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	224					cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAAGTTACCTGTTTATTCTTC	0.383																																					Melanoma(46;573 1182 27367 39727 48386)												0													205	188	193					8																	91072859		2203	4300	6503	SO:0001583	missense	0				CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"EF-hand domain containing"	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.670C>A	8.37:g.91072859G>T	ENSP00000265431:p.Gln224Lys		B2R696|B7Z9J4	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.Q224K	ENST00000265431.3	37	c.670	CCDS6251.1	8	.	.	.	.	.	.	.	.	.	.	G	2.938	-0.219623	0.06061	.	.	ENSG00000104327	ENST00000265431;ENST00000518457	D;D	0.94417	-1.55;-3.42	5.8	5.8	0.92144	EF-hand-like domain (1);	0.062472	0.64402	D	0.000012	D	0.84547	0.5496	N	0.04805	-0.155	0.38758	D	0.954257	B	0.02656	0.0	B	0.04013	0.001	T	0.79337	-0.1845	10	0.02654	T	1	-18.6958	13.0372	0.58879	0.0:0.0:0.7338:0.2662	.	224	P05937	CALB1_HUMAN	K	224;167	ENSP00000265431:Q224K;ENSP00000429602:Q167K	ENSP00000265431:Q224K	Q	-	1	0	CALB1	91142035	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.976000	0.70484	2.758000	0.94735	0.563000	0.77884	CAG	CALB1	-	NULL	ENSG00000104327		0.383	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB1	HGNC	protein_coding	OTTHUMT00000259338.2		0	58	0	G	NM_004929		91072859	-1			no_errors	ENST00000265431	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	91072859	G	T	91072859	3	4	147	1	0	0	0	0	1	0	0	0	2580	1386	48	3	123	3	CALB1	8	91072859	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	15809341	91072859	55291163	135	37490											
TRPS1	7227	genome.wustl.edu	37	chr8	116599311	116599311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccccagacttctctcCgccagctggcgccccctgca	5	6	11	19	2	1	1	0	0	1	1	3	2	2	1	6	2	2	2	6	2	0	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:116599311C>T	ENST00000220888.5	-	4	2737	c.2578G>A	c.(2578-2580)Gga>Aga	p.G860R	TRPS1_ENST00000519076.1_Missense_Mutation_p.G614R|TRPS1_ENST00000395715.3_Missense_Mutation_p.G873R|TRPS1_ENST00000519674.1_Missense_Mutation_p.G860R|TRPS1_ENST00000520276.1_Missense_Mutation_p.G864R			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	860					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)			GACTTCTCTCCGCCAGCTGGC	0.567									Langer-Giedion syndrome																																								0													36	38	38					8																	116599311		1817	4070	5887	SO:0001583	missense	0	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.2578G>A	8.37:g.116599311C>T	ENSP00000220888:p.Gly860Arg		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.G873R	ENST00000220888.5	37	c.2617		8	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082222	0.55861	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98474	-4.95;-4.93;-4.93;-4.93;0.86	5.76	4.88	0.63580	.	0.334388	0.31370	N	0.007761	D	0.95497	0.8537	N	0.19112	0.55	0.36701	D	0.880125	P;P;P	0.51147	0.676;0.72;0.942	B;B;B	0.43301	0.151;0.237;0.415	D	0.97130	0.9817	10	0.87932	D	0	.	15.256	0.73585	0.0:0.9318:0.0:0.0682	.	864;860;873	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	R	873;860;614;864;860	ENSP00000379065:G873R;ENSP00000220888:G860R;ENSP00000428910:G614R;ENSP00000428680:G864R;ENSP00000429174:G860R	ENSP00000220888:G860R	G	-	1	0	TRPS1	116668486	0.901000	0.30685	0.851000	0.33527	0.347000	0.29111	2.769000	0.47654	1.407000	0.46875	0.655000	0.94253	GGA	TRPS1	-	NULL	ENSG00000104447		0.567	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3		0	59	0	C	NM_014112		116599311	-1			no_errors	ENST00000395715	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.992	T	T	116599311	C	T	116599311	3	4	147	1	0	0	0	0	1	0	0	0	16641	661	23	1	1279	1	TRPS1	8	116599311	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	25526452	116599311	29764711	136	37491											
EEF1D	1936	genome.wustl.edu	37	chr8	144662314	144662314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggaagccccccagaccagCccgtccagctggatagagcg	9	5	12	15	2	0	2	0	0	0	2	1	4	1	4	6	2	4	1	6	2	2	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:144662314C>T	ENST00000529272.1	-	7	1075	c.675G>A	c.(673-675)ggG>ggA	p.G225G	NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000532741.1_Silent_p.G641G|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000524624.1_Silent_p.G201G|EEF1D_ENST00000423316.2_Silent_p.G591G|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000419152.2_Silent_p.G225G|EEF1D_ENST00000317198.6_Silent_p.G225G|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000442189.2_Silent_p.G591G|EEF1D_ENST00000531621.1_Silent_p.G182G|EEF1D_ENST00000528610.1_Silent_p.G201G|RP11-661A12.9_ENST00000531730.1_RNA|EEF1D_ENST00000532400.1_Missense_Mutation_p.G41D|EEF1D_ENST00000395119.3_Silent_p.G225G|EEF1D_ENST00000526838.1_Silent_p.G206G|RP11-661A12.7_ENST00000529247.1_RNA			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	225	Catalytic (GEF).				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)			CCCAGACCAGCCCGTCCAGCT	0.622																																																	0													35	40	38					8																	144662314		2203	4299	6502	SO:0001819	synonymous_variant	0			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.675G>A	8.37:g.144662314C>T			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	NULL	p.G41D	ENST00000529272.1	37	c.122	CCDS6405.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.59|15.59	2.878242|2.878242	0.51801|0.51801	.|.	.|.	ENSG00000104529|ENSG00000104529	ENST00000530109|ENST00000532400	.|.	.|.	.|.	4.84|4.84	1.63|1.63	0.23807|0.23807	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62245|0.62245	0.2412|0.2412	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61997|0.61997	-0.6947|-0.6947	4|6	.|0.66056	.|D	.|0.02	.|.	7.5675|7.5675	0.27887|0.27887	0.0:0.5958:0.2313:0.1728|0.0:0.5958:0.2313:0.1728	.|.	.|.	.|.	.|.	T|D	100|41	.|.	.|ENSP00000433784:G41D	A|G	-|-	1|2	0|0	EEF1D|EEF1D	144733457|144733457	0.263000|0.263000	0.24083|0.24083	0.999000|0.999000	0.59377|0.59377	0.973000|0.973000	0.67179|0.67179	-0.535000|-0.535000	0.06142|0.06142	0.560000|0.560000	0.29169|0.29169	-0.225000|-0.225000	0.12378|0.12378	GCT|GGC	EEF1D	-	NULL	ENSG00000104529		0.622	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EEF1D	HGNC	protein_coding	OTTHUMT00000382592.2	-	0	67	0	C	NM_032378		144662314	-1	tier1	-	no_errors	ENST00000532400	ensembl	human	novel	74_37	missense	34.88	28	15	SNP	0.997	T	T	144662314	C	T	144662314	2	4	147	1	0	0	0	0	0	0	0	1	4940	726	26	3		3	EEF1D	8	144662314	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	28063003	144662314	1701708	137	37492											
VPS28	51160	genome.wustl.edu	37	chr8	145649383	145649383	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcctggctgggagggtctCgggcactgcggggctctgcc	2	7	18	14	3	2	0	0	0	2	0	3	1	2	1	3	6	2	3	3	6	0	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:145649383C>T	ENST00000526054.1	-	8	586				VPS28_ENST00000292510.4_Intron|VPS28_ENST00000529182.1_Missense_Mutation_p.E197K|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000377348.2_Missense_Mutation_p.E197K			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)						endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGGAGGGTCTCGGGCACTGCG	0.706																																																	0													40	49	46					8																	145649383		2200	4297	6497	SO:0001627	intron_variant	0			AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"vacuolar protein sorting 28 (yeast)"				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.548+40G>A	8.37:g.145649383C>T			Q86VK0	Missense_Mutation	SNP	pfam_VPS28,pirsf_VPS28	p.E197K	ENST00000526054.1	37	c.589	CCDS6425.1	8	.	.	.	.	.	.	.	.	.	.	c	11.38	1.621950	0.28889	.	.	ENSG00000160948	ENST00000529182;ENST00000377348	.	.	.	2.24	-4.02	0.04034	.	.	.	.	.	T	0.18299	0.0439	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	7	0.39692	T	0.17	.	1.335	0.02143	0.2005:0.2455:0.3936:0.1605	.	197	Q9UK41-2	.	K	197	.	ENSP00000366565:E197K	E	-	1	0	VPS28	145620191	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.366000	0.07563	-0.798000	0.04444	0.609000	0.83330	GAG	VPS28	-	pirsf_VPS28	ENSG00000160948		0.706	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS28	HGNC	protein_coding	OTTHUMT00000382694.1	-	0	61	0	C			145649383	-1	tier1	-	no_errors	ENST00000377348	ensembl	human	known	74_37	missense	100.00	0	2	SNP	0.000	T	T	145649383	C	T	145649383	1	4	147	0	1	0	0	0	0	0	0	0	17248	893	31	1		1	VPS28	8	145649383	Intron	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	987069	145649383	714639	138	37493											
KANK1	23189	genome.wustl.edu	37	chr9	710961	710961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagactgaacatccagaaGaggcggaagccgtccgtgcc	14	4	12	11	3	0	4	0	1	0	3	2	5	2	5	4	2	3	0	4	2	5	0	rs201438936	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:710961G>T	ENST00000382303.1	+	7	847	c.195G>T	c.(193-195)aaG>aaT	p.K65N	KANK1_ENST00000382293.3_5'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.K65N|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	65	Nuclear localization signal 1 (NLS 1).				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)		ACATCCAGAAGAGGCGGAAGC	0.478																																																	0													102	88	93					9																	710961		2203	4300	6503	SO:0001583	missense	0			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.195G>T	9.37:g.710961G>T	ENSP00000371740:p.Lys65Asn		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K65N	ENST00000382303.1	37	c.195	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320282	0.60634	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297	T;T	0.40476	1.03;1.03	6.06	6.06	0.98353	Kank N-terminal motif (1);	0.000000	0.53938	D	0.000056	T	0.52208	0.1720	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.976	T	0.51756	-0.8665	10	0.66056	D	0.02	0.3395	10.8679	0.46866	0.1389:0.0:0.8611:0.0	.	65;65	Q5W0W1;Q14678	.;KANK1_HUMAN	N	65	ENSP00000371740:K65N;ENSP00000371734:K65N	ENSP00000346479:K65N	K	+	3	2	KANK1	700961	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.548000	0.60718	2.882000	0.98803	0.655000	0.94253	AAG	KANK1	-	pfam_KN_motif	ENSG00000107104		0.478	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	-	0	71	0	G	NM_015158		710961	1	tier1	-	no_errors	ENST00000382297	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	710961	G	T	710961	3	4	147	1	0	0	0	0	1	0	0	0	8003	933	33	3	201	3	KANK1	9	710961	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09		710961	140502470	139	37494											
DMRT1	1761	genome.wustl.edu	37	chr9	968057	968057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctattagtaacaagaGcacaaaggcagtgcttgaat	14	10	8	9	0	1	2	0	1	1	1	2	2	1	2	1	1	3	4	1	1	6	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:968057G>T	ENST00000382276.3	+	5	1189	c.1040G>T	c.(1039-1041)aGc>aTc	p.S347I	DMRT1_ENST00000569227.1_Missense_Mutation_p.S189I	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	347	Pro/Ser-rich.				cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGTAACAAGAGCACAAAGGCA	0.552																																																	0													68	61	63					9																	968057		2203	4300	6503	SO:0001583	missense	0			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.1040G>T	9.37:g.968057G>T	ENSP00000371711:p.Ser347Ile		B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.S347I	ENST00000382276.3	37	c.1040	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086129	0.55861	.	.	ENSG00000137090	ENST00000382276	T	0.19938	2.11	5.49	4.59	0.56863	.	0.129173	0.53938	D	0.000050	T	0.31606	0.0802	L	0.43646	1.37	0.42614	D	0.993328	D	0.61080	0.989	P	0.55087	0.768	T	0.05869	-1.0859	10	0.56958	D	0.05	.	14.5647	0.68168	0.0702:0.0:0.9298:0.0	.	347	Q9Y5R6	DMRT1_HUMAN	I	347	ENSP00000371711:S347I	ENSP00000371711:S347I	S	+	2	0	DMRT1	958057	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.696000	0.54757	1.469000	0.48083	-0.136000	0.14681	AGC	DMRT1	-	NULL	ENSG00000137090		0.552	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	HGNC	protein_coding	OTTHUMT00000051489.2		0	67	0	G	NM_021951		968057	1			no_errors	ENST00000382276	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	968057	G	T	968057	3	4	147	1	0	0	0	0	1	0	0	0	4599	971	34	3	1058	3	DMRT1	9	968057	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	257096	968057	140245374	140	37495											
GLIS3	169792	genome.wustl.edu	37	chr9	3856151	3856151	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaactctccgggggctGatgtggtgaggagatggagc	7	8	19	7	1	1	3	0	2	1	1	2	6	1	5	1	6	2	2	1	6	1	0	rs367576956		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:3856151G>T	ENST00000324333.10	-	8	2059	c.1866C>A	c.(1864-1866)atC>atA	p.I622I	GLIS3_ENST00000381971.3_Silent_p.I777I|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	622					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)		TCCGGGGGCTGATGTGGTGAG	0.478																																																	0													100	94	96					9																	3856151		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1866C>A	9.37:g.3856151G>T			B1AL19|Q1PHK5	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I777	ENST00000324333.10	37	c.2331	CCDS6451.1	9																																																																																			GLIS3	-	NULL	ENSG00000107249		0.478	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	-	0	64	0	G	NM_152629		3856151	-1	tier1	-	no_errors	ENST00000381971	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T	T	3856151	G	T	3856151	2	4	147	1	0	0	0	0	0	0	0	1	6473	1280	45	3		3	GLIS3	9	3856151	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2888094	3856151	137357280	141	37496											
MPDZ	8777	genome.wustl.edu	37	chr9	13133903	13133903	+	Splice_Site	SNP	T	T	C	0	1	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	agtagtaacagttggctctgTctgacagagggaaagaaatg	14	9	13	5	0	2	3	0	1	2	2	2	4	2	4	0	2	1	4	0	2	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:13133903T>C	ENST00000319217.7	-	32	4631	c.4384A>G	c.(4384-4386)Aca>Gca	p.T1462A	MPDZ_ENST00000381015.4_Splice_Site_p.T1462A|MPDZ_ENST00000546205.1_Splice_Site_p.T1476A|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000540202.1_5'Flank|MPDZ_ENST00000538841.1_Splice_Site_p.T321A|MPDZ_ENST00000541718.1_Splice_Site_p.T1462A|MPDZ_ENST00000381022.2_Splice_Site_p.T1462A|MPDZ_ENST00000536827.1_Splice_Site_p.T1429A|MPDZ_ENST00000447879.1_Splice_Site_p.T1429A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1462					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTTGGCTCTGTCTGACAGAGG	0.353																																																	0													72	68	70					9																	13133903		1849	4104	5953	SO:0001630	splice_region_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4384-1A>G	9.37:g.13133903T>C			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.T1462A	ENST00000319217.7	37	c.4384		9	.	.	.	.	.	.	.	.	.	.	T	3.342	-0.134296	0.06711	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.13657	2.97;2.92;2.92;2.57;2.8;2.84;2.9;2.95;2.97;2.96	5.68	-1.32	0.09201	PDZ/DHR/GLGF (1);	0.883774	0.09422	N	0.804232	T	0.05502	0.0145	N	0.08118	0	0.80722	D	1	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;0.0;0.001;0.0;0.001;0.0	T	0.45483	-0.9258	10	0.08381	T	0.77	.	7.6182	0.28171	0.0:0.5138:0.1008:0.3854	.	1429;321;167;1429;1342;1462;1462	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	A	1462;1462;1462;31;398;321;1429;1429;1462;1342;1476	ENSP00000320006:T1462A;ENSP00000439807:T1462A;ENSP00000370410:T1462A;ENSP00000415964:T31A;ENSP00000444230:T398A;ENSP00000444717:T321A;ENSP00000444151:T1429A;ENSP00000415208:T1429A;ENSP00000370403:T1462A;ENSP00000446358:T1476A	ENSP00000320006:T1462A	T	-	1	0	MPDZ	13123903	0.043000	0.20138	0.125000	0.21846	0.007000	0.05969	-0.163000	0.09997	-0.375000	0.07955	-0.993000	0.02533	ACA	MPDZ	-	superfamily_PDZ	ENSG00000107186		0.353	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	-	0	73	0	T	NM_003829	Missense_Mutation	13133903	-1	tier1	-	no_errors	ENST00000319217	ensembl	human	known	74_37	missense	15.15	56	10	SNP	0.846	C	C	13133903	T	C	13133903	5	2	147	1	0	0	0	0	0	0	1	0	9760	1681	58	4	1801	4	MPDZ	9	13133903	Splice_Site	SNP	T	TCGA-R6-A6Y2-01B-11D-A33E-09	9277752	13133903	128079528	142	37497											
VCP	7415	genome.wustl.edu	37	chr9	35059171	35059171	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctctgtcaggtcagctcCagagaagccattagtcattt	11	12	8	10	0	4	1	3	0	1	1	6	2	5	1	2	1	2	1	2	1	3	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:35059171C>A	ENST00000358901.6	-	15	2945	c.2050G>T	c.(2050-2052)Gga>Tga	p.G684*		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	684					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)			AGGTCAGCTCCAGAGAAGCCA	0.512																																																	0													96	90	92					9																	35059171		2203	4300	6503	SO:0001587	stop_gained	0			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.2050G>T	9.37:g.35059171C>A	ENSP00000351777:p.Gly684*		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.G684*	ENST00000358901.6	37	c.2050	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	C	47	13.432581	0.99741	.	.	ENSG00000165280	ENST00000358901	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-44.3112	20.0591	0.97667	0.0:1.0:0.0:0.0	.	.	.	.	X	684	.	ENSP00000351777:G684X	G	-	1	0	VCP	35049171	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.747000	0.94245	0.462000	0.41574	GGA	VCP	-	superfamily_P-loop_NTPase,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.512	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	-	0	152	0	C	NM_007126		35059171	-1	tier1	-	no_errors	ENST00000358901	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	A	A	35059171	C	A	35059171	4	1	147	1	0	0	0	0	0	1	0	0	17189	603	21	3	382	3	VCP	9	35059171	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	21925268	35059171	106154260	143	37498											
MELK	9833	genome.wustl.edu	37	chr9	36665360	36665360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccagtttaccaagtactGgacagaatcaaatggggtgg	12	11	11	7	0	1	1	1	0	0	1	2	2	2	2	2	4	2	2	2	4	5	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:36665360G>T	ENST00000298048.2	+	14	1374	c.1190G>T	c.(1189-1191)tGg>tTg	p.W397L	MELK_ENST00000545008.1_Missense_Mutation_p.W326L|MELK_ENST00000543751.1_Missense_Mutation_p.W365L|MELK_ENST00000541717.1_Missense_Mutation_p.W356L|MELK_ENST00000536329.1_Missense_Mutation_p.W326L|MELK_ENST00000538311.1_Missense_Mutation_p.W203L|MELK_ENST00000536987.1_Missense_Mutation_p.W266L|MELK_ENST00000536860.1_Missense_Mutation_p.W349L	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	397	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			ACCAAGTACTGGACAGAATCA	0.328																																					Ovarian(82;980 1317 7225 14391 18624)												0													61	62	62					9																	36665360		2203	4300	6503	SO:0001583	missense	0			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1190G>T	9.37:g.36665360G>T	ENSP00000298048:p.Trp397Leu		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W397L	ENST00000298048.2	37	c.1190	CCDS6606.1	9	.	.	.	.	.	.	.	.	.	.	G	1.480	-0.557499	0.03967	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.69685	-0.24;0.77;0.54;1.08;0.45;-0.42;-0.23;-0.24	5.52	2.62	0.31277	.	0.973510	0.08553	N	0.928707	T	0.50939	0.1645	L	0.29908	0.895	0.25111	N	0.990712	B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.10450	0.002;0.005;0.005;0.002;0.003;0.001;0.0	T	0.36456	-0.9747	10	0.25106	T	0.35	-1.6676	5.4395	0.16500	0.0794:0.143:0.6296:0.148	.	317;326;349;356;326;365;397	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	L	397;203;266;326;349;326;356;365	ENSP00000298048:W397L;ENSP00000438226:W203L;ENSP00000439184:W266L;ENSP00000445452:W326L;ENSP00000439792:W349L;ENSP00000443550:W326L;ENSP00000437804:W356L;ENSP00000441596:W365L	ENSP00000298048:W397L	W	+	2	0	MELK	36655360	1.000000	0.71417	0.995000	0.50966	0.069000	0.16628	1.549000	0.36212	0.660000	0.30964	0.557000	0.71058	TGG	MELK	-	NULL	ENSG00000165304		0.328	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MELK	HGNC	protein_coding	OTTHUMT00000052428.3		0	35	0	G	NM_014791		36665360	1			no_errors	ENST00000298048	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.997	T	T	36665360	G	T	36665360	3	4	147	1	0	0	0	0	1	0	0	0	9508	1357	47	3	1240	3	MELK	9	36665360	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1606189	36665360	104548071	144	37499											
FOXD4L3	286380	genome.wustl.edu	37	chr9	70917939	70917939	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cgggactccgatggggaagaCggtaaaatcgatgtcctggg	10	7	16	8	4	0	1	0	0	0	1	3	5	2	3	2	5	0	1	2	5	3	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:70917939C>T	ENST00000342833.2	+	1	664	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	24						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)		ATGGGGAAGACGGTAAAATCG	0.627																																																	0													1	1	1					9																	70917939		102	248	350	SO:0001819	synonymous_variant	0			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.72C>T	9.37:g.70917939C>T			Q5JTX9	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.D24	ENST00000342833.2	37	c.72	CCDS43833.1	9																																																																																			FOXD4L3	-	NULL	ENSG00000187559		0.627	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L3	HGNC	protein_coding	OTTHUMT00000052539.2	-	0	55	0	C	NM_199358		70917939	1	tier1	-	no_errors	ENST00000342833	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.164	T	T	70917939	C	T	70917939	2	4	147	1	0	0	0	0	0	0	0	1	6024	535	19	1		1	FOXD4L3	9	70917939	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	34252579	70917939	70295492	145	37500											
PCSK5	5125	genome.wustl.edu	37	chr9	78686660	78686660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagtgcgaatgctggacgGagatgtcacggacatggttg	10	8	17	6	3	1	1	1	0	0	1	1	6	1	4	0	5	2	2	0	5	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:78686660G>T	ENST00000545128.1	+	7	1278	c.740G>T	c.(739-741)gGa>gTa	p.G247V	PCSK5_ENST00000376752.4_Missense_Mutation_p.G247V|PCSK5_ENST00000376767.3_Missense_Mutation_p.G247V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	247	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)	p.G247E(3)		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						ATGCTGGACGGAGATGTCACG	0.522																																																	3	Substitution - Missense(3)	lung(3)											143	140	141					9																	78686660		2203	4300	6503	SO:0001583	missense	0				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.740G>T	9.37:g.78686660G>T	ENSP00000446280:p.Gly247Val		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.G247V	ENST00000545128.1	37	c.740	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788617	0.90367	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	D;D;D	0.88664	-2.41;-2.41;-2.41	5.66	5.66	0.87406	.	.	.	.	.	D	0.97343	0.9131	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98727	1.0711	9	0.87932	D	0	.	19.7365	0.96208	0.0:0.0:1.0:0.0	.	247;247	Q92824-2;B1AMG5	.;.	V	247	ENSP00000446280:G247V;ENSP00000365958:G247V;ENSP00000365943:G247V	ENSP00000365943:G247V	G	+	2	0	PCSK5	77876480	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.476000	0.97823	2.672000	0.90937	0.655000	0.94253	GGA	PCSK5	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000099139		0.522	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding			0	46	0	G			78686660	1			no_errors	ENST00000545128	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	78686660	G	T	78686660	3	4	147	1	0	0	0	0	1	0	0	0	11642	1174	41	3	766	3	PCSK5	9	78686660	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	7768721	78686660	62526771	146	37501											
GNA14	9630	genome.wustl.edu	37	chr9	80262587	80262589	+	Splice_Site	DEL	CAG	CAG	-																															cggagacgcagccactcaccCagcagcagcagcttaagctc																								rs144900584		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:80262587_80262589delCAG	ENST00000341700.6	-	1	634_636	c.121_123delCTG	c.(121-123)ctgdel	p.L41del		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	41					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						GCCACTCACCCAGCAGCAGCAGC	0.685																																																	0																																										SO:0001630	splice_region_variant	0			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.124+1CTG>-	9.37:g.80262596_80262598delCAG			B1ALW3	In_Frame_Del	DEL	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.L41in_frame_del	ENST00000341700.6	37	c.123_121	CCDS6657.1	9																																																																																			GNA14	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000156049		0.685	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA14	HGNC	protein_coding	OTTHUMT00000052759.1		0	99	0	CAG		In_Frame_Del	80262589	-1	tier1		no_errors	ENST00000341700	ensembl	human	known	74_37	in_frame_del	10.00	18	2	DEL	1.000:1.000:1.000	-	-	80262589	CAG	-	80262587	8	5	147	1	0	1	0	1	0	0	1	0	6528	608	21	0	972	0	GNA14	9	80262587	Splice_Site	DEL	CAG	TCGA-R6-A6Y2-01B-11D-A33E-09	1575927	80262587	60950844	147	37502											
TLE4	7091	genome.wustl.edu	37	chr9	82336678	82336678	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattccagggccacacagatGgagccagctgtattgacatt	12	9	10	10	0	0	2	0	1	0	1	1	3	1	3	3	2	2	2	3	2	2	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:82336678G>T	ENST00000376552.2	+	17	2879	c.1861G>T	c.(1861-1863)Gga>Tga	p.G621*	TLE4_ENST00000376520.4_Nonsense_Mutation_p.G653*|TLE4_ENST00000376534.4_Nonsense_Mutation_p.G258*|TLE4_ENST00000265284.6_Nonsense_Mutation_p.G596*|TLE4_ENST00000376544.3_Nonsense_Mutation_p.G552*|TLE4_ENST00000376537.4_Nonsense_Mutation_p.G653*	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	621					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.G621*(1)|p.G653*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCACACAGATGGAGCCAGCTG	0.473																																																	2	Substitution - Nonsense(2)	lung(2)											66	65	65					9																	82336678		2203	4300	6503	SO:0001587	stop_gained	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1861G>T	9.37:g.82336678G>T	ENSP00000365735:p.Gly621*		F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Nonsense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.G653*	ENST00000376552.2	37	c.1957	CCDS43837.1	9	.	.	.	.	.	.	.	.	.	.	G	49	15.641287	0.99840	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-15.3836	20.5373	0.99239	0.0:0.0:1.0:0.0	.	.	.	.	X	621;552;653;653;258;596	.	ENSP00000265284:G596X	G	+	1	0	TLE4	81526498	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	9.869000	0.99810	2.857000	0.98124	0.650000	0.86243	GGA	TLE4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000106829		0.473	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4		0	86	0	G	XM_212237		82336678	1			no_errors	ENST00000376520	ensembl	human	known	74_37	nonsense	6.00	47	3	SNP	1.000	T	T	82336678	G	T	82336678	4	4	147	1	0	0	0	0	0	1	0	0	15988	1349	47	3	1927	3	TLE4	9	82336678	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2074091	82336678	58876753	148	37503											
RMI1	80010	genome.wustl.edu	37	chr9	86617475	86617475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaaatctctcaagttctgGtggtatttggagtataactg	10	15	11	5	0	3	0	1	0	2	0	4	2	3	2	0	4	1	3	0	4	5	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:86617475G>T	ENST00000325875.3	+	3	1906	c.1574G>T	c.(1573-1575)gGt>gTt	p.G525V		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	525					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)		p.G525V(1)		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						TCAAGTTCTGGTGGTATTTGG	0.378																																																	1	Substitution - Missense(1)	stomach(1)											193	192	192					9																	86617475		2203	4300	6503	SO:0001583	missense	0			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.1574G>T	9.37:g.86617475G>T	ENSP00000317039:p.Gly525Val		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	pfam_DUF1767	p.G525V	ENST00000325875.3	37	c.1574	CCDS6669.1	9	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340294	0.41398	.	.	ENSG00000178966	ENST00000325875	T	0.35236	1.32	5.29	3.4	0.38934	.	0.404947	0.28114	N	0.016541	T	0.22936	0.0554	L	0.43152	1.355	0.52501	D	0.999958	P	0.41784	0.762	B	0.32022	0.139	T	0.03514	-1.1029	9	.	.	.	-0.0382	7.5394	0.27729	0.1316:0.0:0.7166:0.1518	.	525	Q9H9A7	RMI1_HUMAN	V	525	ENSP00000317039:G525V	.	G	+	2	0	RMI1	85807295	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.615000	0.46368	1.315000	0.45114	0.563000	0.77884	GGT	RMI1	-	NULL	ENSG00000178966		0.378	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1		0	32	0	G	NM_024945		86617475	1			no_errors	ENST00000325875	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	86617475	G	T	86617475	3	4	147	1	0	0	0	0	1	0	0	0	13440	1261	44	3	1576	3	RMI1	9	86617475	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	4280797	86617475	54595956	149	37504											
IARS	3376	genome.wustl.edu	37	chr9	95043051	95043051	+	Missense_Mutation	SNP	T	T	A	0	1	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	taattttcacatattgcattTctggattaacacacacagca	14	14	4	9	0	2	0	1	0	1	0	2	1	2	1	0	1	3	2	0	1	3	7			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:95043051T>A	ENST00000375643.3	-	7	988	c.722A>T	c.(721-723)gAa>gTa	p.E241V	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.E241V|IARS_ENST00000447699.2_Missense_Mutation_p.E131V	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	241					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)	ATATTGCATTTCTGGATTAAC	0.348																																																	0													108	103	105					9																	95043051		2203	4300	6503	SO:0001583	missense	0			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.722A>T	9.37:g.95043051T>A	ENSP00000364794:p.Glu241Val		A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.E241V	ENST00000375643.3	37	c.722	CCDS6694.1	9	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208891	0.58343	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.45	5.45	0.79879	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.412136	0.27912	N	0.017341	T	0.56717	0.2004	M	0.91663	3.23	0.80722	D	1	B;B	0.20459	0.009;0.045	B;B	0.28465	0.061;0.09	T	0.62062	-0.6933	10	0.72032	D	0.01	-6.6741	14.789	0.69824	0.0:0.0:0.0:1.0	.	241;86	P41252;Q6P0M4	SYIC_HUMAN;.	V	241;241;131;241;241	ENSP00000364794:E241V;ENSP00000406448:E241V;ENSP00000415020:E131V;ENSP00000378922:E241V	ENSP00000364794:E241V	E	-	2	0	IARS	94082872	1.000000	0.71417	0.976000	0.42696	0.682000	0.39822	7.748000	0.85085	2.193000	0.70182	0.533000	0.62120	GAA	IARS	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	ENSG00000196305		0.348	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	-	0	60	0	T	NM_002161		95043051	-1	tier1	-	no_errors	ENST00000375643	ensembl	human	known	74_37	missense	13.98	80	13	SNP	0.996	A	A	95043051	T	A	95043051	3	1	147	1	0	0	0	0	1	0	0	0	7500	1783	62	5	3178	5	IARS	9	95043051	Missense_Mutation	SNP	T	TCGA-R6-A6Y2-01B-11D-A33E-09	8425576	95043051	46170380	150	37505											
BICD2	23299	genome.wustl.edu	37	chr9	95481343	95481344	+	Frame_Shift_Del	DEL	CA	CA	-																															gccagctcctcactgaaggtCaccagctcatcctgggccac																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:95481343_95481344delCA	ENST00000375512.3	-	5	1650_1651	c.1583_1584delTG	c.(1582-1584)gtgfs	p.V528fs	BICD2_ENST00000356884.6_Frame_Shift_Del_p.V528fs	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	528					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						CACTGAAGGTCACCAGCTCATC	0.619																																																	0																																										SO:0001589	frameshift_variant	0			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.1583_1584delTG	9.37:g.95481343_95481344delCA	ENSP00000364662:p.Val528fs		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Frame_Shift_Del	DEL	pfam_Bicaudal-D_microtubule-assoc	p.V528fs	ENST00000375512.3	37	c.1584_1583	CCDS6700.1	9																																																																																			BICD2	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000185963		0.619	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1		0	45	0	CA	NM_015250		95481344	-1	tier1		no_errors	ENST00000356884	ensembl	human	known	74_37	frame_shift_del	28.57	5	2	DEL	1.000:1.000	-	-	95481344	CA	-	95481343	7	5	147	1	0	1	0	1	0	0	0	0	1431	813	29	0	1005	0	BICD2	9	95481343	Frame_Shift_Del	DEL	CA	TCGA-R6-A6Y2-01B-11D-A33E-09	438292	95481343	45732088	151	37506											
ALDOB	229	genome.wustl.edu	37	chr9	104188851	104188851	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttaccttctcagtaacatActggcagtgttccaggtcat	10	13	7	11	0	2	0	2	0	1	0	4	0	3	0	2	2	3	3	2	2	3	5	rs374240733		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:104188851A>G	ENST00000374855.4	-	6	734	c.610T>C	c.(610-612)Tat>Cat	p.Y204H	ALDOB_ENST00000468981.3_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	204					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCAGTAACATACTGGCAGTGT	0.368																																																	0													129	118	122					9																	104188851		2203	4300	6503	SO:0001583	missense	0			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.610T>C	9.37:g.104188851A>G	ENSP00000363988:p.Tyr204His		Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	pfam_Aldolase_I	p.Y204H	ENST00000374855.4	37	c.610	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	A	14.06	2.423551	0.43020	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.85861	-2.04	5.62	5.62	0.85841	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.84977	0.5592	M	0.75150	2.29	0.80722	D	1	B	0.20459	0.045	B	0.20184	0.028	T	0.81653	-0.0835	10	0.38643	T	0.18	-2.697	14.9958	0.71431	1.0:0.0:0.0:0.0	.	204	P05062	ALDOB_HUMAN	H	204;131;204	ENSP00000363988:Y204H	ENSP00000363986:Y131H	Y	-	1	0	ALDOB	103228672	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.335000	0.96500	2.132000	0.65825	0.459000	0.35465	TAT	ALDOB	-	pfam_Aldolase_I	ENSG00000136872		0.368	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	-	0	77	0	A			104188851	-1	tier1	-	no_errors	ENST00000374855	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	G	G	104188851	A	G	104188851	3	3	147	1	0	0	0	0	1	0	0	0	508	391	14	4	500	4	ALDOB	9	104188851	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	8707508	104188851	37024580	152	37507											
CYLC2	1539	genome.wustl.edu	37	chr9	105767543	105767543	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagaatctgaaggtgaaaaAggaggtacagagaaagatag	20	5	13	3	0	1	5	0	2	1	3	1	7	1	6	0	3	1	1	0	3	7	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:105767543A>G	ENST00000374798.3	+	5	700	c.630A>G	c.(628-630)aaA>aaG	p.K210K	CYLC2_ENST00000487798.1_Silent_p.K210K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	210	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGGTGAAAAAGGAGGTACAG	0.358																																																	0													81	77	79					9																	105767543		2203	4300	6503	SO:0001819	synonymous_variant	0			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.630A>G	9.37:g.105767543A>G			B2R8F4|Q5VVJ9	Silent	SNP	NULL	p.K210	ENST00000374798.3	37	c.630	CCDS35085.1	9																																																																																			CYLC2	-	NULL	ENSG00000155833		0.358	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3		0	12	0	A	NM_001340		105767543	1			no_errors	ENST00000374798	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.000	G	G	105767543	A	G	105767543	2	3	147	1	0	0	0	0	0	0	0	1	4151	69	3	4		4	CYLC2	9	105767543	Silent	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	1578692	105767543	35445888	153	37508											
SMC2	10592	genome.wustl.edu	37	chr9	106878558	106878558	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcaataaaatttcagcCagatgtattgcaccagaaac	16	9	5	11	0	2	2	2	0	0	2	2	2	2	2	3	0	3	2	3	0	5	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:106878558C>A	ENST00000286398.7	+	14	2037	c.1749C>A	c.(1747-1749)gcC>gcA	p.A583A	SMC2_ENST00000303219.8_Silent_p.A583A|SMC2_ENST00000374787.3_Silent_p.A583A|SMC2_ENST00000374793.3_Silent_p.A583A	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	583	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAATTTCAGccagatgtattg	0.338																																																	0													62	68	66					9																	106878558		2203	4300	6503	SO:0001819	synonymous_variant	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1749C>A	9.37:g.106878558C>A			Q6IEE0|Q9P1P2	Silent	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.A583	ENST00000286398.7	37	c.1749	CCDS35086.1	9																																																																																			SMC2	-	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	ENSG00000136824		0.338	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	-	0	63	0	C			106878558	1	tier1	-	no_errors	ENST00000286398	ensembl	human	known	74_37	silent	5.62	84	5	SNP	0.997	A	A	106878558	C	A	106878558	2	1	147	1	0	0	0	0	0	0	0	1	14828	581	21	3		3	SMC2	9	106878558	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	1111015	106878558	34334873	154	37509											
C9orf84	158401	genome.wustl.edu	37	chr9	114454721	114454721	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcctattttcctgaggtGacgaaatttgcggtgatttt	8	17	10	6	2	0	3	0	3	0	0	2	5	2	3	2	2	1	0	2	2	2	7	rs148430343		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:114454721G>T	ENST00000318737.4	-	25	3472	c.3344C>A	c.(3343-3345)tCa>tAa	p.S1115*	C9orf84_ENST00000374287.3_Nonsense_Mutation_p.S1115*|C9orf84_ENST00000394777.4_Nonsense_Mutation_p.S1041*|C9orf84_ENST00000394779.3_Nonsense_Mutation_p.S1076*	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1115										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						TTCCTGAGGTGACGAAATTTG	0.318																																																	0													58	63	61					9																	114454721		2203	4298	6501	SO:0001587	stop_gained	0			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.3344C>A	9.37:g.114454721G>T	ENSP00000322108:p.Ser1115*		A2A2V3|Q2M1H8|Q96M73	Nonsense_Mutation	SNP	superfamily_RuvA_2-like	p.S1115*	ENST00000318737.4	37	c.3344	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	G	38	6.861189	0.97893	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	.	.	.	5.53	4.63	0.57726	.	0.350018	0.21023	N	0.081462	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2163	8.812	0.34974	0.1723:0.0:0.8276:0.0	.	.	.	.	X	1076;1041;729;1115;1115	.	ENSP00000322108:S1115X	S	-	2	0	C9orf84	113494542	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	1.608000	0.36847	1.463000	0.47967	0.563000	0.77884	TCA	C9orf84	-	NULL	ENSG00000165181		0.318	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	-	0	37	0	G	NM_173521		114454721	-1	tier1	-	no_errors	ENST00000318737	ensembl	human	known	74_37	nonsense	6.85	68	5	SNP	0.997	T	T	114454721	G	T	114454721	4	4	147	1	0	0	0	0	0	1	0	0	2507	1294	45	3	998	3	C9orf84	9	114454721	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	7576163	114454721	26758710	155	37510											
DAB2IP	153090	genome.wustl.edu	37	chr9	124521267	124521267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctccggcgagcggtgcatCccaacaaggtaagcctgcgc	9	5	12	15	4	0	0	0	0	0	0	2	1	2	0	4	3	5	2	4	3	3	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:124521267C>T	ENST00000408936.3	+	5	789	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	DAB2IP_ENST00000309989.1_Missense_Mutation_p.P79S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.P175S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	203	C2.				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						AGCGGTGCATCCCAACAAGGT	0.572																																																	0													77	67	70					9																	124521267		2203	4300	6503	SO:0001583	missense	0			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.607C>T	9.37:g.124521267C>T	ENSP00000386183:p.Pro203Ser		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.P203S	ENST00000408936.3	37	c.607		9	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780454	0.90195	.	.	ENSG00000136848	ENST00000394340;ENST00000436835;ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.97148	0.9068	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97990	1.0354	10	0.87932	D	0	.	17.4451	0.87575	0.0:1.0:0.0:0.0	.	175	G3XA90	.	S	175;79;175;203;112;79	ENSP00000377872:P175S;ENSP00000409327:P79S;ENSP00000259371:P175S;ENSP00000386183:P203S;ENSP00000362887:P112S;ENSP00000310827:P79S	ENSP00000259371:P175S	P	+	1	0	DAB2IP	123561088	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.813000	0.86123	2.414000	0.81942	0.462000	0.41574	CCC	DAB2IP	-	superfamily_C2_dom,smart_Pleckstrin_homology	ENSG00000136848		0.572	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	-	0	74	0	C	NM_032552		124521267	1	tier1	-	no_errors	ENST00000408936	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	T	T	124521267	C	T	124521267	3	4	147	1	0	0	0	0	1	0	0	0	4228	855	30	3	541	3	DAB2IP	9	124521267	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	10066546	124521267	16692164	156	37511											
OR1N1	138883	genome.wustl.edu	37	chr9	125289383	125289383	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccatgtcaacaaaagacaGgttggccaagaaaaagtaca	19	5	8	9	0	1	2	1	0	0	2	1	2	1	2	2	2	2	2	2	2	7	2	rs539467595		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:125289383G>A	ENST00000304880.2	-	1	189	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACAAAAGACAGGTTGGCCAAG	0.498																																																	0													85	81	82					9																	125289383		2203	4300	6503	SO:0001819	synonymous_variant	0			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.190C>T	9.37:g.125289383G>A			A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L64	ENST00000304880.2	37	c.190	CCDS6844.1	9																																																																																			OR1N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171505		0.498	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N1	HGNC	protein_coding	OTTHUMT00000053938.1	-	0	94	0	G			125289383	-1	tier1	-	no_errors	ENST00000304880	ensembl	human	known	74_37	silent	42.59	31	23	SNP	0.973	A	A	125289383	G	A	125289383	2	1	147	1	0	0	0	0	0	0	0	1	11008	991	35	3		3	OR1N1	9	125289383	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	768116	125289383	15924048	157	37512											
RABGAP1	23637	genome.wustl.edu	37	chr9	125777872	125777872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgtatccaaagaatgtGcagaaaaaattcttgaaaca	18	10	8	5	0	1	4	0	2	1	2	2	4	2	4	1	0	2	2	1	0	7	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:125777872G>T	ENST00000373647.4	+	12	1734	c.1600G>T	c.(1600-1602)Gca>Tca	p.A534S		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	534					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						CAAAGAATGTGCAGAAAAAAT	0.338																																																	0													100	102	102					9																	125777872		2203	4300	6503	SO:0001583	missense	0			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.1600G>T	9.37:g.125777872G>T	ENSP00000362751:p.Ala534Ser		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.A534S	ENST00000373647.4	37	c.1600	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	G	8.444	0.851423	0.17034	.	.	ENSG00000011454	ENST00000373647	T	0.69561	-0.41	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	N	0.03948	-0.315	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.44034	-0.9354	10	0.05959	T	0.93	-16.7048	18.3181	0.90227	0.0:0.0:1.0:0.0	.	534	Q9Y3P9	RBGP1_HUMAN	S	534	ENSP00000362751:A534S	ENSP00000362751:A534S	A	+	1	0	RABGAP1	124817693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.237000	0.78164	2.612000	0.88384	0.655000	0.94253	GCA	RABGAP1	-	NULL	ENSG00000011454		0.338	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	-	0	46	0	G	NM_012197		125777872	1	tier1	-	no_errors	ENST00000373647	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T	T	125777872	G	T	125777872	3	4	147	1	0	0	0	0	1	0	0	0	13009	1319	46	3	1642	3	RABGAP1	9	125777872	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	488489	125777872	15435559	158	37513											
RABGAP1	23637	genome.wustl.edu	37	chr9	125827718	125827718	+	Missense_Mutation	SNP	A	A	T	1	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	cacaggaggagatggacaagAttccttatataaaatatgca	17	9	9	6	0	0	2	0	0	0	2	1	5	1	4	1	3	1	1	1	3	6	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:125827718A>T	ENST00000373647.4	+	14	2020	c.1886A>T	c.(1885-1887)gAt>gTt	p.D629V	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	629	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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						GATGGACAAGATTCCTTATAT	0.393																																																	0													83	85	85					9																	125827718		2203	4300	6503	SO:0001583	missense	0			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.1886A>T	9.37:g.125827718A>T	ENSP00000362751:p.Asp629Val		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.D629V	ENST00000373647.4	37	c.1886	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	A	27.7	4.859287	0.91433	.	.	ENSG00000011454	ENST00000373647	T	0.11495	2.77	5.65	5.65	0.86999	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.16300	0.0392	L	0.49455	1.56	0.80722	D	1	B	0.32893	0.389	B	0.38264	0.269	T	0.01326	-1.1384	10	0.72032	D	0.01	-20.1331	15.8569	0.78987	1.0:0.0:0.0:0.0	.	629	Q9Y3P9	RBGP1_HUMAN	V	629	ENSP00000362751:D629V	ENSP00000362751:D629V	D	+	2	0	RABGAP1	124867539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.957000	0.93082	2.140000	0.66376	0.533000	0.62120	GAT	RABGAP1	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000011454		0.393	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	-	0	74	0	A	NM_012197		125827718	1	tier1	-	no_errors	ENST00000373647	ensembl	human	known	74_37	missense	29.85	47	20	SNP	1.000	T	T	125827718	A	T	125827718	3	4	147	1	0	0	0	0	1	0	0	0	13009	333	12	5	1936	5	RABGAP1	9	125827718	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	49846	125827718	15385713	159	37514											
PBX3	5090	genome.wustl.edu	37	chr9	128728190	128728190	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggaagtgtgcactcggaTacctctaactaatctctggc	10	10	9	12	1	2	0	0	0	2	0	4	2	2	2	2	3	3	1	2	3	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:128728190T>A	ENST00000373489.5	+	9	1309	c.1293T>A	c.(1291-1293)gaT>gaA	p.D431E	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_3'UTR|PBX3_ENST00000447726.2_Missense_Mutation_p.D356E|PBX3_ENST00000373483.2_Missense_Mutation_p.D250E|PBX3_ENST00000373487.4_Missense_Mutation_p.D452E	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	431					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TGCACTCGGATACCTCTAACT	0.483																																																	0													160	141	147					9																	128728190		2203	4300	6503	SO:0001583	missense	0				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1293T>A	9.37:g.128728190T>A	ENSP00000362588:p.Asp431Glu		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.D431E	ENST00000373489.5	37	c.1293	CCDS6865.1	9	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283917	0.59867	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.92099	-2.76;1.24;-2.88;-2.97	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.95310	0.8478	M	0.74258	2.255	0.58432	D	0.999997	D;D	0.67145	0.996;0.969	D;P	0.77557	0.99;0.701	D	0.95483	0.8562	10	0.87932	D	0	.	11.5561	0.50748	0.0:0.0688:0.0:0.9312	.	452;431	Q5JS98;P40426	.;PBX3_HUMAN	E	431;452;250;356	ENSP00000362588:D431E;ENSP00000362586:D452E;ENSP00000362582:D250E;ENSP00000387456:D356E	ENSP00000362582:D250E	D	+	3	2	PBX3	127768011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.849000	0.62882	2.304000	0.77564	0.528000	0.53228	GAT	PBX3	-	NULL	ENSG00000167081		0.483	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	-	0	107	0	T			128728190	1	tier1	-	no_errors	ENST00000373489	ensembl	human	known	74_37	missense	34.72	47	25	SNP	1.000	A	A	128728190	T	A	128728190	3	1	147	1	0	0	0	0	1	0	0	0	11533	1403	49	5	1327	5	PBX3	9	128728190	Missense_Mutation	SNP	T	TCGA-R6-A6Y2-01B-11D-A33E-09	2900472	128728190	12485241	160	37515											
GOLGA2	2801	genome.wustl.edu	37	chr9	131020087	131020087	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaatggtgtctgtctctcCagaaagctggatgcagcgat	10	10	11	10	1	2	1	0	0	2	1	4	3	3	2	2	2	3	2	2	2	2	0	rs371413148		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:131020087C>A	ENST00000421699.2	-	23	2524	c.2512G>T	c.(2512-2514)Gga>Tga	p.G838*	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Nonsense_Mutation_p.G826*	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	838					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						TCTGTCTCTCCAGAAAGCTGG	0.582																																																	0													341	333	336					9																	131020087		2203	4300	6503	SO:0001587	stop_gained	0			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.2512G>T	9.37:g.131020087C>A	ENSP00000416097:p.Gly838*		Q6GRM9|Q9BRB0|Q9NYF9	Nonsense_Mutation	SNP	superfamily_CofA_tubulin-bd	p.G838*	ENST00000421699.2	37	c.2512	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	c	35	5.533391	0.96460	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	.	.	.	4.56	3.67	0.42095	.	0.049521	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.5111	0.56005	0.0:0.919:0.0:0.081	.	.	.	.	X	838;122	.	ENSP00000342692:G122X	G	-	1	0	GOLGA2	130059908	1.000000	0.71417	0.234000	0.24042	0.019000	0.09904	7.320000	0.79064	1.132000	0.42129	0.650000	0.86243	GGA	GOLGA2	-	NULL	ENSG00000167110		0.582	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2	-	0	130	0	C	NM_004486		131020087	-1	tier1	-	no_errors	ENST00000421699	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	0.997	A	A	131020087	C	A	131020087	4	1	147	1	0	0	0	0	0	1	0	0	6578	603	21	3	512	3	GOLGA2	9	131020087	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	2291897	131020087	10193344	161	37516											
GTF3C5	9328	genome.wustl.edu	37	chr9	135906458	135906458	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccccgtggagctgaggcgGgagcgacgcatggtgtgcgt	5	7	19	10	5	0	1	0	1	0	0	1	4	1	3	2	4	3	2	2	4	0	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:135906458G>T	ENST00000372097.5	+	1	383	c.60G>T	c.(58-60)cgG>cgT	p.R20R	GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000342018.8_Silent_p.R20R|GTF3C5_ENST00000372095.5_5'UTR|GTF3C5_ENST00000372099.6_Silent_p.R20R|GTF3C5_ENST00000372108.5_Silent_p.R20R	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	20					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)		AGCTGAGGCGGGAGCGACGCA	0.711																																																	0													35	33	34					9																	135906458		2202	4300	6502	SO:0001819	synonymous_variant	0			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.60G>T	9.37:g.135906458G>T			A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	pfam_TF_IIIC_su-5	p.R20	ENST00000372097.5	37	c.60	CCDS6958.1	9																																																																																			GTF3C5	-	NULL	ENSG00000148308		0.711	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1	-	0	99	0	G	NM_001122823		135906458	1	tier1	-	no_errors	ENST00000372108	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.490	T	T	135906458	G	T	135906458	2	4	147	1	0	0	0	0	0	0	0	1	6903	1219	43	3		3	GTF3C5	9	135906458	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	4886371	135906458	5306973	162	37517											
NOTCH1	4851	genome.wustl.edu	37	chr9	139391881	139391881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgatgtcgtgatgcatgcGctcctgtgcgatgtcgcgcg	5	10	14	12	7	0	1	0	1	0	0	3	3	1	1	1	0	3	2	1	0	0	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:139391881G>T	ENST00000277541.6	-	34	6385	c.6310C>A	c.(6310-6312)Cgc>Agc	p.R2104S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2104					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)		TGATGCATGCGCTCCTGTGCG	0.672			"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													38	41	40					9																	139391881		2185	4273	6458	SO:0001583	missense	0			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.6310C>A	9.37:g.139391881G>T	ENSP00000277541:p.Arg2104Ser		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.R2104S	ENST00000277541.6	37	c.6310	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152241	0.57259	.	.	ENSG00000148400	ENST00000277541	T	0.52983	0.64	5.42	4.47	0.54385	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	L	0.37561	1.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59852	-0.7376	10	0.87932	D	0	.	13.2385	0.59983	0.0:0.0:0.7361:0.2639	.	2104	P46531	NOTC1_HUMAN	S	2104	ENSP00000277541:R2104S	ENSP00000277541:R2104S	R	-	1	0	NOTCH1	138511702	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	4.117000	0.57877	2.703000	0.92315	0.561000	0.74099	CGC	NOTCH1	-	superfamily_Ankyrin_rpt-contain_dom,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom	ENSG00000148400		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	82	0	G	NM_017617		139391881	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T	T	139391881	G	T	139391881	3	4	147	1	0	0	0	0	1	0	0	0	10586	1087	38	2	1361	2	NOTCH1	9	139391881	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	3485423	139391881	1821550	163	37518											
NOTCH1	4851	genome.wustl.edu	37	chr9	139400133	139400133	+	Frame_Shift_Del	DEL	G	G	-																															tagaaggggctctcggatgtGggctcacaggtcccctggtt																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:139400133delG	ENST00000277541.6	-	25	4290	c.4215delC	c.(4213-4215)cccfs	p.P1405fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1405	EGF-like 36. {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)		TCTCGGATGTGGGCTCACAGG	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													18	23	21					9																	139400133		1901	4102	6003	SO:0001589	frameshift_variant	0			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.4215delC	9.37:g.139400133delG	ENSP00000277541:p.Pro1405fs		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.T1406fs	ENST00000277541.6	37	c.4215	CCDS43905.1	9																																																																																			NOTCH1	-	smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0	178	0	G	NM_017617		139400133	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.984	-	-	139400133	G	-	139400133	7	5	147	1	0	1	0	1	0	0	0	0	10586	1335	47	0	3492	0	NOTCH1	9	139400133	Frame_Shift_Del	DEL	G	TCGA-R6-A6Y2-01B-11D-A33E-09	8252	139400133	1813298	164	37519											
PFKP	5214	genome.wustl.edu	37	chr10	3176766	3176766	+	Frame_Shift_Del	DEL	G	G	-																															tgcaaaactcaaggaggcccGgggcagaggtaaggggtctg																								rs200067284		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:3176766delG	ENST00000381125.4	+	20	2190	c.2114delG	c.(2113-2115)cggfs	p.R705fs	PFKP_ENST00000381072.1_Frame_Shift_Del_p.R123fs|PFKP_ENST00000381075.2_Frame_Shift_Del_p.R697fs	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	705	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AAGGAGGCCCGGGGCAGAGGT	0.567																																																	0													83	96	92					10																	3176766		2203	4300	6503	SO:0001589	frameshift_variant	0			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2114delG	10.37:g.3176766delG	ENSP00000370517:p.Arg705fs		B3KS15|Q5VSR7|Q5VSR8	Frame_Shift_Del	DEL	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.G706fs	ENST00000381125.4	37	c.2114	CCDS7059.1	10																																																																																			PFKP	-	superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000067057		0.567	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKP	HGNC	protein_coding	OTTHUMT00000046454.1		0	42	0	G	NM_002627		3176766	1	tier1		no_errors	ENST00000381125	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	0.000	-	-	3176766	G	-	3176766	7	5	147	1	0	1	0	1	0	0	0	0	11805	1116	39	0	2192	0	PFKP	10	3176766	Frame_Shift_Del	DEL	G	TCGA-R6-A6Y2-01B-11D-A33E-09		3176766	132357981	165	37520											
KIN	22944	genome.wustl.edu	37	chr10	7817764	7817765	+	Splice_Site	INS	-	-	A																															cgtaaaagtagggacctcctINSaaaaaaaagaaagttttaag																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:7817764_7817765insA	ENST00000379562.4	-	6	606		c.e6-2		KIN_ENST00000535925.1_Splice_Site|KIN_ENST00000543003.1_Splice_Site	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						AGGGACCTCCTAAAAAAAAGAA	0.317																																																	0																																										SO:0001630	splice_region_variant	0			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.559-2->T	10.37:g.7817772_7817772dupA				Splice_Site	INS	-	e6-2	ENST00000379562.4	37	c.559-3_559-2	CCDS7080.1	10																																																																																			KIN	-	-	ENSG00000151657		0.317	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIN	HGNC	protein_coding	OTTHUMT00000046683.2		0	39	0	-	NM_012311	Intron	7817765	-1	tier1		no_errors	ENST00000379562	ensembl	human	known	74_37	splice_site_ins	6.90	54	4	INS	0.999:0.029	A	A	7817765	-	A	7817764	8	5	147	1	0	1	1	0	0	0	1	0	8342	1536	53	0	656	0	KIN	10	7817764	Splice_Site	INS	-	TCGA-R6-A6Y2-01B-11D-A33E-09	4640998	7817764	127716983	166	37521											
PHYH	5264	genome.wustl.edu	37	chr10	13322988	13322988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacataccttcaagttcacGctattttcagctccaaagaa	15	11	4	11	1	3	1	3	0	0	1	4	1	4	1	2	0	3	3	2	0	6	6			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:13322988G>A	ENST00000263038.4	-	8	1009	c.951C>T	c.(949-951)agC>agT	p.S317S	PHYH_ENST00000396920.3_Silent_p.S300S|PHYH_ENST00000396913.2_Silent_p.S217S	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	317					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TCAAGTTCACGCTATTTTCAG	0.373																																																	0													155	140	145					10																	13322988		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.951C>T	10.37:g.13322988G>A			A8MTS8|B1ALH5	Silent	SNP	pfam_Phytyl_CoA_dOase	p.S317	ENST00000263038.4	37	c.951	CCDS7097.1	10																																																																																			PHYH	-	NULL	ENSG00000107537		0.373	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYH	HGNC	protein_coding	OTTHUMT00000046845.2	-	0	80	0	G			13322988	-1	tier1	-	no_errors	ENST00000263038	ensembl	human	known	74_37	silent	8.11	67	6	SNP	0.000	A	A	13322988	G	A	13322988	2	1	147	1	0	0	0	0	0	0	0	1	11903	1078	38	1		1	PHYH	10	13322988	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	5505224	13322988	122211759	167	37522											
STAM	8027	genome.wustl.edu	37	chr10	17746459	17746459	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagttgctacagatgctGcaaagtacagaccccagtga	13	7	10	11	0	0	3	0	1	0	2	0	4	0	3	3	0	5	5	3	0	3	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:17746459G>T	ENST00000377524.3	+	10	1157	c.942G>T	c.(940-942)ctG>ctT	p.L314L	STAM_ENST00000540523.1_Silent_p.L203L	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	314					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						TACAGATGCTGCAAAGTACAG	0.363																																																	0													136	132	134					10																	17746459		2203	4300	6503	SO:0001819	synonymous_variant	0			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.942G>T	10.37:g.17746459G>T			B0YJ99|D3DRU5|Q8N6D9	Silent	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.L314	ENST00000377524.3	37	c.942	CCDS7122.1	10																																																																																			STAM	-	NULL	ENSG00000136738		0.363	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	HGNC	protein_coding	OTTHUMT00000047039.1	-	0	83	0	G	NM_003473		17746459	1	tier1	-	no_errors	ENST00000377524	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.992	T	T	17746459	G	T	17746459	2	4	147	1	0	0	0	0	0	0	0	1	15295	1306	46	3		3	STAM	10	17746459	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	4423471	17746459	117788288	168	37523											
GPR158	57512	genome.wustl.edu	37	chr10	25887231	25887231	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctcagagaagaaaactggGcacccacgaacatcgatgtt	15	6	10	10	2	1	2	1	0	0	2	2	5	1	2	1	1	3	3	1	1	4	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:25887231G>T	ENST00000376351.3	+	11	3035	c.2676G>T	c.(2674-2676)ggG>ggT	p.G892G	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	892					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						AGAAAACTGGGCACCCACGAA	0.512																																																	0													103	104	103					10																	25887231		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2676G>T	10.37:g.25887231G>T			Q6QR81|Q9ULT3	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.G892	ENST00000376351.3	37	c.2676	CCDS31166.1	10																																																																																			GPR158	-	NULL	ENSG00000151025		0.512	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0	57	0	G	XM_166110		25887231	1	tier1	-	no_errors	ENST00000376351	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.887	T	T	25887231	G	T	25887231	2	4	147	1	0	0	0	0	0	0	0	1	6689	1190	42	3		3	GPR158	10	25887231	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	8140772	25887231	109647516	169	37524											
ACBD5	91452	genome.wustl.edu	37	chr10	27504518	27504518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaacttcactgtctgaatcGcttgtcaaatgctgaattcc	11	14	6	10	1	3	2	2	2	1	0	5	2	4	2	1	0	2	2	1	0	5	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:27504518G>T	ENST00000375888.1	-	8	973	c.909C>A	c.(907-909)agC>agA	p.S303R	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Missense_Mutation_p.S185R|ACBD5_ENST00000375897.3_Missense_Mutation_p.S117R|ACBD5_ENST00000396271.3_Missense_Mutation_p.S294R|ACBD5_ENST00000375905.4_Missense_Mutation_p.S259R			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	303					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)	p.S294S(1)|p.S259S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGTCTGAATCGCTTGTCAAAT	0.318																																																	2	Substitution - coding silent(2)	endometrium(2)											136	116	123					10																	27504518		2201	4298	6499	SO:0001583	missense	0			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.909C>A	10.37:g.27504518G>T	ENSP00000365049:p.Ser303Arg		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	p.S303R	ENST00000375888.1	37	c.909		10	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082083	0.55861	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	D;T;T;T;T	0.83992	-1.79;0.84;0.35;0.71;1.48	5.01	3.86	0.44501	.	0.072922	0.85682	D	0.000000	D	0.89093	0.6617	M	0.78637	2.42	0.58432	D	0.999998	D;D;D;D	0.65815	0.995;0.976;0.985;0.985	D;D;D;P	0.67725	0.953;0.927;0.924;0.899	D	0.87687	0.2551	10	0.45353	T	0.12	-4.6202	10.5888	0.45298	0.9231:0.0:0.0769:0.0	.	294;117;292;303	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	R	300;294;259;185;117;303	ENSP00000379568:S294R;ENSP00000365070:S259R;ENSP00000365066:S185R;ENSP00000365062:S117R;ENSP00000365049:S303R	ENSP00000365049:S303R	S	-	3	2	ACBD5	27544524	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.356000	0.44116	0.755000	0.32990	-0.509000	0.04479	AGC	ACBD5	-	pirsf_M-assoc_diazepam-bd-inh	ENSG00000107897		0.318	ACBD5-005	KNOWN	basic	protein_coding	ACBD5	HGNC	protein_coding	OTTHUMT00000047314.1		0	30	0	G	NM_145698		27504518	-1			no_errors	ENST00000375888	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	27504518	G	T	27504518	3	4	147	1	0	0	0	0	1	0	0	0	125	1078	38	2	719	2	ACBD5	10	27504518	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1617287	27504518	108030229	170	37525											
ARMC4	55130	genome.wustl.edu	37	chr10	28270417	28270417	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttagacatattttctgaaAattttggtgatttttctctt	10	22	5	4	0	2	3	0	2	2	1	3	3	2	3	0	1	0	0	0	1	4	10			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:28270417A>C	ENST00000305242.5	-	7	1006	c.914T>G	c.(913-915)tTt>tGt	p.F305C	ARMC4_ENST00000537576.1_De_novo_Start_OutOfFrame|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.F162C|ARMC4_ENST00000545014.1_De_novo_Start_OutOfFrame	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	305					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTTTCTGAAAATTTTGGTGA	0.299																																																	0													59	65	63					10																	28270417		2200	4290	6490	SO:0001583	missense	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.914T>G	10.37:g.28270417A>C	ENSP00000306410:p.Phe305Cys		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.F305C	ENST00000305242.5	37	c.914	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320391	0.60634	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.68479	0.32;-0.33;-0.32	5.01	5.01	0.66863	.	0.157857	0.56097	D	0.000024	T	0.82204	0.4986	M	0.80847	2.515	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.85203	0.1016	10	0.87932	D	0	-5.4009	15.0115	0.71552	1.0:0.0:0.0:0.0	.	305	Q5T2S8	ARMC4_HUMAN	C	305;199;162	ENSP00000306410:F305C;ENSP00000398155:F199C;ENSP00000239715:F162C	ENSP00000239715:F162C	F	-	2	0	ARMC4	28310423	1.000000	0.71417	0.987000	0.45799	0.516000	0.34256	7.499000	0.81566	2.020000	0.59435	0.533000	0.62120	TTT	ARMC4	-	superfamily_GSKIP_dom	ENSG00000169126		0.299	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	-	0	38	0	A	NM_018076		28270417	-1	tier1	-	no_errors	ENST00000305242	ensembl	human	known	74_37	missense	36.44	75	43	SNP	1.000	C	C	28270417	A	C	28270417	3	2	147	1	0	0	0	0	1	0	0	0	954	14	1	4	2276	4	ARMC4	10	28270417	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	765899	28270417	107264330	171	37526											
C10orf71	118461	genome.wustl.edu	37	chr10	50534981	50534981	+	3'UTR	SNP	C	C	A	0	0	0	1	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	aaacaagcaacacacacacaCacacacacacacacacacac	22	0	1	18	0	0	0	0	0	0	0	0	0	0	0	0	0	3	1	0	0	3	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:50534981C>A	ENST00000374144.3	+	0	4679				C10orf71_ENST00000323868.4_Missense_Mutation_p.H694N			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71											endometrium(1)	1						cacacacacacacacacacac	0.502																																																	0													57	59	59					10																	50534981		1979	4133	6112	SO:0001624	3_prime_UTR_variant	0			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.*83C>A	10.37:g.50534981C>A			A0AVL8	Missense_Mutation	SNP	NULL	p.H694N	ENST00000374144.3	37	c.2080	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	c	11.36	1.615467	0.28801	.	.	ENSG00000177354	ENST00000323868	T	0.13307	2.6	4.51	-0.725	0.11174	.	.	.	.	.	T	0.02727	0.0082	N	0.00538	-1.39	0.09310	N	1	B	0.16603	0.018	B	0.18263	0.021	T	0.44329	-0.9335	9	0.02654	T	1	.	7.5308	0.27681	0.0:0.5093:0.0:0.4907	.	694	Q711Q0-3	.	N	694	ENSP00000318713:H694N	ENSP00000318713:H694N	H	+	1	0	C10orf71	50204987	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.121000	0.15667	-0.009000	0.14296	0.484000	0.47621	CAC	C10orf71	-	NULL	ENSG00000177354		0.502	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	-	0	41	0	C	NM_199459		50534981	1	tier1	-	no_errors	ENST00000323868	ensembl	human	known	74_37	missense	16.00	20	4	SNP	0.000	A	A	50534981	C	A	50534981	1	1	147	0	1	0	0	0	0	0	0	0	1619	478	17	3		3	C10orf71	10	50534981	3'UTR	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	22264564	50534981	84999766	172	37527											
ANK3	288	genome.wustl.edu	37	chr10	61833327	61833327	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgttgactcaaaagcttcaAtgttttataagagtcatcag	13	14	8	6	0	4	2	4	1	0	1	4	2	4	2	0	0	1	3	0	0	5	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:61833327A>G	ENST00000280772.2	-	37	7503	c.7312T>C	c.(7312-7314)Ttg>Ctg	p.L2438L	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)	2438					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						AAAAGCTTCAATGTTTTATAA	0.413																																																	0													87	88	88					10																	61833327		2203	4300	6503	SO:0001819	synonymous_variant	0			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.7312T>C	10.37:g.61833327A>G			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.L2438	ENST00000280772.2	37	c.7312	CCDS7258.1	10																																																																																			ANK3	-	NULL	ENSG00000151150		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0	50	0	A	NM_020987		61833327	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.604	G	G	61833327	A	G	61833327	2	3	147	1	0	0	0	0	0	0	0	1	622	98	4	4		4	ANK3	10	61833327	Silent	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	11298346	61833327	73701420	173	37528											
TMEM26	219623	genome.wustl.edu	37	chr10	63170318	63170318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacgaggaagttcttcgcgGcaaagaacaccagcatctga	13	6	10	12	3	2	2	0	1	2	1	3	4	2	3	2	2	2	3	2	2	3	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:63170318G>A	ENST00000399298.3	-	6	1237	c.869C>T	c.(868-870)gCc>gTc	p.A290V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	290						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)					GTTCTTCGCGGCAAAGAACAC	0.502																																																	0													103	108	107					10																	63170318		2114	4229	6343	SO:0001583	missense	0			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.869C>T	10.37:g.63170318G>A	ENSP00000382237:p.Ala290Val		Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	pfam_Transmembrane_26	p.A290V	ENST00000399298.3	37	c.869	CCDS41530.1	10	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834333	0.91036	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	5.95	0.96441	.	0.109707	0.64402	D	0.000011	T	0.66177	0.2763	L	0.33189	0.99	0.80722	D	1	D	0.63046	0.992	P	0.59012	0.85	T	0.66732	-0.5849	9	0.66056	D	0.02	-2.1204	20.3967	0.98985	0.0:0.0:1.0:0.0	.	290	Q6ZUK4	TMM26_HUMAN	V	290	.	ENSP00000382237:A290V	A	-	2	0	TMEM26	62840324	1.000000	0.71417	0.967000	0.41034	0.382000	0.30200	9.416000	0.97383	2.829000	0.97493	0.655000	0.94253	GCC	TMEM26	-	pfam_Transmembrane_26	ENSG00000196932		0.502	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM26	HGNC	protein_coding	OTTHUMT00000359121.1	-	0	106	0	G	NM_178505		63170318	-1	tier1	-	no_errors	ENST00000399298	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	63170318	G	A	63170318	3	1	147	1	0	0	0	0	1	0	0	0	16198	1203	42	3	241	3	TMEM26	10	63170318	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1336991	63170318	72364429	174	37529											
SIRT1	23411	genome.wustl.edu	37	chr10	69651212	69651212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagggatggtatttatgCtcgccttgctgtagacttcc	7	14	11	9	1	1	1	1	0	0	1	3	2	2	2	2	2	2	4	2	2	4	6			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:69651212C>T	ENST00000212015.6	+	4	895	c.842C>T	c.(841-843)gCt>gTt	p.A281V	SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	281	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GGTATTTATGCTCGCCTTGCT	0.373																																																	0													220	213	215					10																	69651212		2203	4300	6503	SO:0001583	missense	0			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.842C>T	10.37:g.69651212C>T	ENSP00000212015:p.Ala281Val		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.A281V	ENST00000212015.6	37	c.842	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.274257	0.95459	.	.	ENSG00000096717	ENST00000212015	T	0.18810	2.19	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	M	0.76838	2.35	0.80722	D	1	D	0.60575	0.988	D	0.67900	0.954	T	0.51647	-0.8679	10	0.62326	D	0.03	-15.4362	17.7449	0.88418	0.0:1.0:0.0:0.0	.	281	Q96EB6	SIRT1_HUMAN	V	281	ENSP00000212015:A281V	ENSP00000212015:A281V	A	+	2	0	SIRT1	69321218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.289000	0.78701	2.495000	0.84180	0.557000	0.71058	GCT	SIRT1	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	ENSG00000096717		0.373	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1		0	39	0	C			69651212	1			no_errors	ENST00000212015	ensembl	human	known	74_37	missense	7.69	47	4	SNP	1.000	T	T	69651212	C	T	69651212	3	4	147	1	0	0	0	0	1	0	0	0	14382	797	28	3	856	3	SIRT1	10	69651212	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	6480894	69651212	65883535	175	37530											
MYPN	84665	genome.wustl.edu	37	chr10	69970097	69970097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccggcccagtggcagtcGctacggatctctcaccagta	7	9	11	14	3	2	0	1	0	1	0	5	1	3	1	3	3	1	3	3	3	2	2	rs372512501		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:69970097G>A	ENST00000358913.5	+	20	4336	c.3848G>A	c.(3847-3849)cGc>cAc	p.R1283H	MYPN_ENST00000354393.2_Missense_Mutation_p.R1008H|MYPN_ENST00000540630.1_Missense_Mutation_p.R1283H	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1283	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						AGTGGCAGTCGCTACGGATCT	0.493																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	127	113	118		3848	6.2	1	10		118	0,8600		0,0,4300	no	missense	MYPN	NM_032578.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1283/1321	69970097	1,13005	2203	4300	6503	SO:0001583	missense	0			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.3848G>A	10.37:g.69970097G>A	ENSP00000351790:p.Arg1283His		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R1283H	ENST00000358913.5	37	c.3848	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.715579	0.96830	2.27E-4	0.0	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.59906	0.23;0.27;0.24	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.981	D;D;P	0.91635	0.998;0.999;0.746	T	0.74737	-0.3564	9	.	.	.	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	1283;1008;1283	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	H	1008;1008;1283;1283	ENSP00000346369:R1008H;ENSP00000351790:R1283H;ENSP00000441668:R1283H	.	R	+	2	0	MYPN	69640103	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.095000	0.94175	2.937000	0.99478	0.650000	0.86243	CGC	MYPN	-	NULL	ENSG00000138347		0.493	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	-	0	83	0	G	NM_032578		69970097	1	tier1	-	no_errors	ENST00000358913	ensembl	human	known	74_37	missense	45.61	31	26	SNP	1.000	A	A	69970097	G	A	69970097	3	1	147	1	0	0	0	0	1	0	0	0	10136	1087	38	1	3922	1	MYPN	10	69970097	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	318885	69970097	65564650	176	37531											
VPS26A	9559	genome.wustl.edu	37	chr10	70931013	70931013	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcacaggcatctgccgaacaGcctgaaatgtgaactgaaca	14	7	9	11	1	2	3	1	3	1	0	2	4	2	3	2	1	5	1	2	1	4	0	rs148524150	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:70931013G>T	ENST00000373382.1	+	10	1625	c.972G>T	c.(970-972)caG>caT	p.Q324H	VPS26A_ENST00000263559.6_Missense_Mutation_p.Q324H|VPS26A_ENST00000546041.1_Missense_Mutation_p.Q307H|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_3'UTR|VPS26A_ENST00000541711.1_Missense_Mutation_p.Q213H|VPS26A_ENST00000395098.1_3'UTR			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	324					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CTGCCGAACAGCCTGAAATGT	0.408																																					Colon(90;545 1358 4729 6702 16773)												0													63	71	68					10																	70931013		2202	4300	6502	SO:0001583	missense	0			AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"vacuolar protein sorting 26 (yeast homolog)", "vacuolar protein sorting 26 (yeast)", "vacuolar protein sorting 26 homolog A (yeast)"	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.972G>T	10.37:g.70931013G>T	ENSP00000362480:p.Gln324His		A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	pfam_VPS26	p.Q324H	ENST00000373382.1	37	c.972	CCDS7286.1	10	.	.	.	.	.	.	.	.	.	.	G	12.48	1.952109	0.34471	.	.	ENSG00000122958	ENST00000373382;ENST00000263559;ENST00000546041;ENST00000541711	.	.	.	5.14	5.14	0.70334	.	0.052466	0.85682	D	0.000000	T	0.38295	0.1035	N	0.08118	0	0.58432	D	0.999999	P;B	0.44195	0.828;0.0	P;B	0.45138	0.471;0.001	T	0.41342	-0.9514	9	0.52906	T	0.07	-10.6587	13.3175	0.60415	0.0762:0.0:0.9238:0.0	.	307;324	F5H4L7;O75436	.;VP26A_HUMAN	H	324;324;307;213	.	ENSP00000263559:Q324H	Q	+	3	2	VPS26A	70601019	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.439000	0.59968	2.550000	0.86006	0.467000	0.42956	CAG	VPS26A	-	NULL	ENSG00000122958		0.408	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26A	HGNC	protein_coding	OTTHUMT00000048403.1		0	107	0	G	NM_004896		70931013	1			no_errors	ENST00000263559	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	70931013	G	T	70931013	3	4	147	1	0	0	0	0	1	0	0	0	17246	962	34	3	1006	3	VPS26A	10	70931013	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	960916	70931013	64603734	177	37532											
IFIT2	3433	genome.wustl.edu	37	chr10	91066977	91066977	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaaaaattgccaaaatgCgactttctaaaaatggagca	18	9	7	7	1	1	0	0	0	1	0	1	2	1	1	1	1	4	2	1	1	8	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:91066977C>T	ENST00000371826.3	+	2	1433	c.1264C>T	c.(1264-1266)Cga>Tga	p.R422*	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	422					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)				TGCCAAAATGCGACTTTCTAA	0.393																																																	0													128	120	123					10																	91066977		1831	4085	5916	SO:0001587	stop_gained	0			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.1264C>T	10.37:g.91066977C>T	ENSP00000360891:p.Arg422*		Q5T767	Nonsense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R422*	ENST00000371826.3	37	c.1264	CCDS41548.1	10	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420645	0.83559	.	.	ENSG00000119922	ENST00000371826	.	.	.	4.58	1.48	0.22813	.	0.534254	0.16694	U	0.203422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1255	12.5012	0.55955	0.7486:0.2513:0.0:0.0	.	.	.	.	X	422	.	ENSP00000360891:R422X	R	+	1	2	IFIT2	91056957	0.000000	0.05858	0.039000	0.18376	0.059000	0.15707	0.363000	0.20301	0.312000	0.23038	-0.152000	0.13540	CGA	IFIT2	-	NULL	ENSG00000119922		0.393	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT2	HGNC	protein_coding	OTTHUMT00000049293.1		0	63	0	C	NM_001547		91066977	1			no_errors	ENST00000371826	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.007	T	T	91066977	C	T	91066977	4	4	147	1	0	0	0	0	0	1	0	0	7550	760	27	1	1270	1	IFIT2	10	91066977	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	20135964	91066977	44467770	178	37533											
CWF19L1	55280	genome.wustl.edu	37	chr10	101996654	101996654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaacagctctatctgctGctcctgtgcctgggtaatga	7	13	9	12	0	2	1	0	1	2	0	4	1	4	1	3	1	5	4	3	1	3	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:101996654G>T	ENST00000354105.4	-	12	1413	c.1327C>A	c.(1327-1329)Cag>Aag	p.Q443K	RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000478047.1_5'UTR|SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000370379.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	443							catalytic activity (GO:0003824)	p.Q443K(1)		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)		TCTATCTGCTGCTCCTGTGCC	0.463																																																	1	Substitution - Missense(1)	cervix(1)											205	191	196					10																	101996654		2203	4300	6503	SO:0001583	missense	0			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.1327C>A	10.37:g.101996654G>T	ENSP00000326411:p.Gln443Lys		B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.Q443K	ENST00000354105.4	37	c.1327	CCDS7489.1	10	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010875	0.35511	.	.	ENSG00000095485	ENST00000354105	T	0.17691	2.26	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	L	0.38838	1.175	0.58432	D	0.999999	B;B	0.24882	0.094;0.113	B;B	0.26517	0.07;0.051	T	0.04140	-1.0974	10	0.29301	T	0.29	-9.8246	16.4131	0.83725	0.0:0.0:1.0:0.0	.	147;443	Q69YN2-2;Q69YN2	.;C19L1_HUMAN	K	443	ENSP00000326411:Q443K	ENSP00000326411:Q443K	Q	-	1	0	CWF19L1	101986644	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	9.471000	0.97696	2.471000	0.83476	0.655000	0.94253	CAG	CWF19L1	-	NULL	ENSG00000095485		0.463	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L1	HGNC	protein_coding			0	80	0	G	NM_018294		101996654	-1			no_errors	ENST00000354105	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	101996654	G	T	101996654	3	4	147	1	0	0	0	0	1	0	0	0	4080	1328	46	3	301	3	CWF19L1	10	101996654	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	10929677	101996654	33538093	179	37534											
PPRC1	23082	genome.wustl.edu	37	chr10	103908158	103908158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttcctctggacgttctcGaagatgctcttcctcttctt	5	17	7	12	2	5	1	0	0	5	1	8	3	7	2	2	1	1	3	2	1	2	6			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:103908158G>T	ENST00000278070.2	+	10	4469	c.4430G>T	c.(4429-4431)cGa>cTa	p.R1477L	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.R1213L|PPRC1_ENST00000370012.1_Missense_Mutation_p.R444L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1477	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGACGTTCTCGAAGATGCtct	0.547																																																	0													188	127	148					10																	103908158		2203	4300	6503	SO:0001583	missense	0			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.4430G>T	10.37:g.103908158G>T	ENSP00000278070:p.Arg1477Leu		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R1477L	ENST00000278070.2	37	c.4430	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	g	14.70	2.612290	0.46631	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.33865	1.39;1.39;1.39	5.34	5.34	0.76211	.	0.179090	0.33712	N	0.004631	T	0.46795	0.1411	N	0.19112	0.55	0.37167	D	0.902883	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.967;0.986;0.967	T	0.52381	-0.8583	10	0.45353	T	0.12	.	18.3851	0.90464	0.0:0.0:1.0:0.0	.	1213;1357;1477	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	L	1477;1213;444	ENSP00000278070:R1477L;ENSP00000399743:R1213L;ENSP00000359029:R444L	ENSP00000278070:R1477L	R	+	2	0	PPRC1	103898148	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.002000	0.63952	2.657000	0.90304	0.478000	0.44815	CGA	PPRC1	-	NULL	ENSG00000148840		0.547	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1		0	61	0	G	NM_015062		103908158	1			no_errors	ENST00000278070	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.997	T	T	103908158	G	T	103908158	3	4	147	1	0	0	0	0	1	0	0	0	12452	1058	37	2	4468	2	PPRC1	10	103908158	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1911504	103908158	31626589	180	37535											
DCLRE1A	9937	genome.wustl.edu	37	chr10	115612803	115612803	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttttctgtttctactccGttttgactggtattttccat	4	23	5	9	1	3	1	0	1	3	0	5	1	5	1	2	1	1	3	2	1	2	9			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:115612803G>T	ENST00000361384.2	-	1	1056	c.139C>A	c.(139-141)Cgg>Agg	p.R47R	DCLRE1A_ENST00000476112.1_5'Flank|NHLRC2_ENST00000369301.3_5'Flank|DCLRE1A_ENST00000369305.1_Silent_p.R47R	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	47	Nuclear localization region.				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)		TTTCTACTCCGTTTTGACTGG	0.383								Other identified genes with known or suspected DNA repair function																																									0													108	112	111					10																	115612803		2203	4300	6503	SO:0001819	synonymous_variant	0				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.139C>A	10.37:g.115612803G>T			D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	pfam_DRMBL	p.R47	ENST00000361384.2	37	c.139	CCDS7584.1	10																																																																																			DCLRE1A	-	NULL	ENSG00000198924		0.383	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1		0	66	0	G	NM_014881		115612803	-1			no_errors	ENST00000361384	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.305	T	T	115612803	G	T	115612803	2	4	147	1	0	0	0	0	0	0	0	1	4303	1144	40	2		2	DCLRE1A	10	115612803	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	11704645	115612803	19921944	181	37536											
TIAL1	7073	genome.wustl.edu	37	chr10	121336675	121336675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaatcgtagtaccgttcaCcgaaacaatggcatgggctg	11	10	10	10	3	2	0	2	0	0	0	3	1	2	0	2	2	2	5	2	2	5	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:121336675C>T	ENST00000436547.2	-	10	822	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	TIAL1_ENST00000369092.4_Missense_Mutation_p.V137M|TIAL1_ENST00000369093.2_Missense_Mutation_p.V277M|TIAL1_ENST00000463089.2_5'UTR	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	260	RRM 3. {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)		GTACCGTTCACCGAAACAATG	0.338																																																	0													82	75	77					10																	121336675		2203	4300	6503	SO:0001583	missense	0			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.778G>A	10.37:g.121336675C>T	ENSP00000394902:p.Val260Met		A8K3T0|A8K4L9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.V277M	ENST00000436547.2	37	c.829	CCDS7613.1	10	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547532	0.65311	.	.	ENSG00000151923	ENST00000369093;ENST00000369092;ENST00000436547	T;T;T	0.15139	2.45;2.45;2.45	5.56	5.56	0.83823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	N	0.04724	-0.175	0.80722	D	1	D;D;P;D	0.89917	0.998;1.0;0.559;1.0	D;D;P;D	0.97110	0.996;0.997;0.522;1.0	T	0.32348	-0.9910	10	0.13853	T	0.58	-7.2128	19.5286	0.95215	0.0:1.0:0.0:0.0	.	137;137;277;260	B4DHS3;Q49AS9;A8K4L9;Q01085	.;.;.;TIAR_HUMAN	M	277;137;260	ENSP00000358089:V277M;ENSP00000358088:V137M;ENSP00000394902:V260M	ENSP00000358088:V137M	V	-	1	0	TIAL1	121326665	1.000000	0.71417	0.960000	0.40013	0.894000	0.52154	7.442000	0.80503	2.619000	0.88677	0.591000	0.81541	GTG	TIAL1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000151923		0.338	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAL1	HGNC	protein_coding	OTTHUMT00000050672.2	-	0	31	0	C	NM_022333, NM_003252		121336675	-1	tier1	-	no_errors	ENST00000369093	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	T	T	121336675	C	T	121336675	3	4	147	1	0	0	0	0	1	0	0	0	15936	507	18	3	361	3	TIAL1	10	121336675	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	5723872	121336675	14198072	182	37537											
CTBP2	1488	genome.wustl.edu	37	chr10	126715318	126715318	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggctcagaacacgggcctgGcccaggttgggtgcgacaga	8	5	16	12	3	1	2	1	0	0	2	1	3	1	2	2	5	2	2	2	5	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:126715318G>A	ENST00000337195.5	-	3	458				CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000309035.6_Silent_p.G337G|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)		CACGGGCCTGGCCCAGGTTGG	0.697																																																	0													19	21	20					10																	126715318		2163	4211	6374	SO:0001627	intron_variant	0			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+12247C>T	10.37:g.126715318G>A			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.G337	ENST00000337195.5	37	c.1011	CCDS7643.1	10																																																																																			CTBP2	-	NULL	ENSG00000175029		0.697	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	-	0	24	0	G	NM_001083914		126715318	-1	tier1	-	no_errors	ENST00000309035	ensembl	human	known	74_37	silent	100.00	0	2	SNP	1.000	A	A	126715318	G	A	126715318	1	1	147	0	1	0	0	0	0	0	0	0	4007	1190	42	3		3	CTBP2	10	126715318	Intron	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	5378643	126715318	8819429	183	37538											
VENTX	27287	genome.wustl.edu	37	chr10	135053543	135053543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgcgcccccagctttctaCtcaacgtcttctggccttgc	5	12	7	17	2	4	0	1	0	3	0	4	0	4	0	3	1	5	1	3	1	2	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:135053543C>T	ENST00000325980.9	+	3	1021	c.510C>T	c.(508-510)taC>taT	p.Y170Y		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	170					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)		CAGCTTTCTACTCAACGTCTT	0.632																																																	0													45	49	48					10																	135053543		2202	4300	6502	SO:0001819	synonymous_variant	0			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.510C>T	10.37:g.135053543C>T			Q32MZ3	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.Y170	ENST00000325980.9	37	c.510	CCDS7675.1	10																																																																																			VENTX	-	NULL	ENSG00000151650		0.632	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VENTX	HGNC	protein_coding	OTTHUMT00000051116.4	-	0	138	0	C	NM_014468		135053543	1	tier1	-	no_errors	ENST00000325980	ensembl	human	known	74_37	silent	46.77	33	29	SNP	0.003	T	T	135053543	C	T	135053543	2	4	147	1	0	0	0	0	0	0	0	1	17202	576	20	3		3	VENTX	10	135053543	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	8338225	135053543	481204	184	37539											
PRAP1	118471	genome.wustl.edu	37	chr10	135165521	135165521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagcagggcctggggcGcccgtgtggtggagcctccg	3	6	19	13	3	0	0	0	0	0	0	1	1	1	1	5	5	3	1	5	5	0	0	rs112404351	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:135165521G>T	ENST00000433452.2	+	4	411	c.139G>T	c.(139-141)Gcc>Tcc	p.A47S	PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000423766.1_Missense_Mutation_p.A48S|ZNF511_ENST00000368554.4_Missense_Mutation_p.A206S|RP11-122K13.7_ENST00000452591.1_RNA|PRAP1_ENST00000458230.1_Missense_Mutation_p.A47S			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	47						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3		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)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		GGCCTGGGGCGCCCGTGTGGT	0.657																																																	0													53	59	57					10																	135165521		2203	4300	6503	SO:0001583	missense	0			AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.139G>T	10.37:g.135165521G>T	ENSP00000416126:p.Ala47Ser		B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.A206S	ENST00000433452.2	37	c.616	CCDS7679.1	10	.	.	.	.	.	.	.	.	.	.	g	10.78	1.446436	0.25987	.	.	ENSG00000198546;ENSG00000165828;ENSG00000165828;ENSG00000165828;ENSG00000165828	ENST00000368554;ENST00000433452;ENST00000423766;ENST00000458230;ENST00000415747	T;T;T;T	0.30182	1.57;1.55;1.54;1.55	3.07	-0.592	0.11671	.	1.236180	0.06264	N	0.694520	T	0.12902	0.0313	N	0.14661	0.345	0.09310	N	1	P;P;P	0.42456	0.78;0.78;0.78	B;B;B	0.33295	0.161;0.161;0.161	T	0.12811	-1.0533	10	0.32370	T	0.25	-1.4189	2.1538	0.03807	0.3971:0.0:0.3607:0.2422	.	47;48;47	A6XND8;Q96NZ9-3;Q96NZ9	.;.;PRAP1_HUMAN	S	206;47;48;47;47	ENSP00000357542:A206S;ENSP00000416126:A47S;ENSP00000409495:A48S;ENSP00000402700:A47S	ENSP00000403014:A47S	A	+	1	0	ZNF511;PRAP1	135015511	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.145000	0.10265	-0.102000	0.12197	-0.144000	0.13903	GCC	ZNF511	-	NULL	ENSG00000198546		0.657	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051132.1		0	188	0	G	NM_145202		135165521	1			no_errors	ENST00000368554	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.000	T	T	135165521	G	T	135165521	3	4	147	1	0	0	0	0	1	0	0	0	12483	1087	38	2	153	2	PRAP1	10	135165521	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	111978	135165521	369226	185	37540											
ANO9	338440	genome.wustl.edu	37	chr11	420818	420818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccggggcaggtgcccGgactcggaggcccgcagaga	6	3	19	13	4	0	1	0	0	0	1	2	4	1	3	3	7	1	2	3	7	0	0	rs371262598		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:420818G>A	ENST00000332826.6	-	18	1617	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	511					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						GCAGGTGCCCGGACTCGGAGG	0.697																																																	0								G		0,4370		0,0,2185	16	19	18		1533	0	0	11		18	1,8561		0,1,4280	no	coding-synonymous	ANO9	NM_001012302.2		0,1,6465	AA,AG,GG		0.0117,0.0,0.0077		511/783	420818	1,12931	2185	4281	6466	SO:0001819	synonymous_variant	0			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.1533C>T	11.37:g.420818G>A			B3KUC4|B4E134|Q8TEN4	Silent	SNP	pfam_Anoctamin	p.S511	ENST00000332826.6	37	c.1533	CCDS31326.1	11																																																																																			ANO9	-	pfam_Anoctamin	ENSG00000185101		0.697	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	-	0	55	0	G	NM_001012302		420818	-1	tier1	-	no_errors	ENST00000332826	ensembl	human	known	74_37	silent	33.33	4	3	SNP	0.000	A	A	420818	G	A	420818	2	1	147	1	0	0	0	0	0	0	0	1	704	1103	39	1		1	ANO9	11	420818	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09		420818	134585698	186	37541											
SPON1	10418	genome.wustl.edu	37	chr11	14279344	14279344	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctgtgacaaaggcaagagGatgcgacagcgcatgctgaa	14	5	13	9	2	0	3	0	2	0	1	0	5	0	4	1	2	3	3	1	2	3	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:14279344G>T	ENST00000310358.7	+	0	1927							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AAGGCAAGAGGATGCGACAGC	0.597																																																	0													30	35	33					11																	14279344		2100	4216	6316			0			AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"spondin 1, (f-spondin) extracellular matrix protein"			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14279344G>T			A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	-	NULL	ENST00000310358.7	37	NULL		11	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791262	0.50102	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	.	.	.	0.58432	D	0.999997	D	0.61080	0.989	D	0.64595	0.927	T	0.71500	-0.4574	7	0.26408	T	0.33	.	16.5961	0.84796	0.0:0.0:1.0:0.0	.	464	Q9HCB6	SPON1_HUMAN	S	463	.	ENSP00000309297:R463S	R	+	3	2	SPON1	14235920	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.227000	0.51262	2.530000	0.85305	0.561000	0.74099	AGG	SPON1	-	-	ENSG00000152268		0.597	SPON1-201	KNOWN	basic	processed_transcript	SPON1	HGNC	processed_transcript		-	0	120	0	G	NM_145584		14279344	1	tier1	-	no_errors	ENST00000310358	ensembl	human	known	74_37	rna	6.35	59	4	SNP	1.000	T	T	14279344	G	T	14279344	1	4	147	0	1	0	0	0	0	0	0	0	15129	1165	41	3		3	SPON1	11	14279344	RNA	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	13858526	14279344	120727172	187	37542											
DCDC1	341019	genome.wustl.edu	37	chr11	31329396	31329396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgttggggccaaactgaGactgcaaataatcatcagta	13	10	10	8	0	3	1	2	1	1	1	3	2	3	1	1	2	2	3	1	2	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:31329396G>T	ENST00000452803.1	-	4	425	c.224C>A	c.(223-225)tCt>tAt	p.S75Y	DCDC1_ENST00000597505.1_Missense_Mutation_p.S75Y|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	75					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCAAACTGAGACTGCAAATA	0.408																																																	0													194	183	187					11																	31329396		2202	4299	6501	SO:0001583	missense	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.224C>A	11.37:g.31329396G>T	ENSP00000389792:p.Ser75Tyr		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	pfscan_Doublecortin_dom	p.S75Y	ENST00000452803.1	37	c.224	CCDS7872.1	11	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335561	0.41398	.	.	ENSG00000188682	ENST00000452803	T	0.34275	1.37	5.9	3.0	0.34707	.	0.644940	0.14459	N	0.318295	T	0.19005	0.0456	N	0.08118	0	0.19945	N	0.999944	B	0.15719	0.014	B	0.10450	0.005	T	0.18085	-1.0348	10	0.72032	D	0.01	.	7.651	0.28348	0.3679:0.0:0.6321:0.0	.	75	P59894	DCDC1_HUMAN	Y	75	ENSP00000389792:S75Y	ENSP00000343496:S75Y	S	-	2	0	DCDC1	31285972	0.738000	0.28186	0.956000	0.39512	0.967000	0.64934	1.516000	0.35856	0.807000	0.34208	0.650000	0.86243	TCT	DCDC1	-	NULL	ENSG00000170959		0.408	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000316531.1		0	43	0	G	NM_181807		31329396	-1			no_errors	ENST00000452803	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.902	T	T	31329396	G	T	31329396	3	4	147	1	0	0	0	0	1	0	0	0	4293	942	33	3	864	3	DCDC1	11	31329396	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	17050052	31329396	103677120	188	37543											
CTNND1	1500	genome.wustl.edu	37	chr11	57576892	57576892	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaggctgccaaaaagcttCgagagacacagggtattgag	13	7	14	7	1	0	2	0	1	0	1	1	5	0	3	1	3	2	3	1	3	3	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:57576892C>T	ENST00000399050.4	+	15	2925	c.2389C>T	c.(2389-2391)Cga>Tga	p.R797*	CTNND1_ENST00000529986.1_Nonsense_Mutation_p.R690*|CTNND1_ENST00000528232.1_Nonsense_Mutation_p.R696*|CTNND1_ENST00000426142.2_Nonsense_Mutation_p.R690*|CTNND1_ENST00000531014.1_Nonsense_Mutation_p.R468*|CTNND1_ENST00000361332.4_Nonsense_Mutation_p.R791*|CTNND1_ENST00000532649.1_Nonsense_Mutation_p.R737*|CTNND1_ENST00000527467.1_Nonsense_Mutation_p.R474*|CTNND1_ENST00000428599.2_Nonsense_Mutation_p.R791*|CTNND1_ENST00000529873.1_Nonsense_Mutation_p.R737*|CTNND1_ENST00000532245.1_Nonsense_Mutation_p.R690*|CTNND1_ENST00000358694.6_Nonsense_Mutation_p.R791*|CTNND1_ENST00000526938.1_Nonsense_Mutation_p.R797*|CTNND1_ENST00000532463.1_Nonsense_Mutation_p.R690*|CTNND1_ENST00000529919.1_Nonsense_Mutation_p.R797*|CTNND1_ENST00000528621.1_Nonsense_Mutation_p.R737*|CTNND1_ENST00000361391.6_Nonsense_Mutation_p.R791*|CTNND1_ENST00000399039.4_Nonsense_Mutation_p.R797*|CTNND1_ENST00000533667.1_Nonsense_Mutation_p.R468*|CTNND1_ENST00000415361.2_Nonsense_Mutation_p.R696*|CTNND1_ENST00000360682.6_Nonsense_Mutation_p.R797*|CTNND1_ENST00000525902.1_Nonsense_Mutation_p.R474*|CTNND1_ENST00000529526.1_Nonsense_Mutation_p.R737*|CTNND1_ENST00000530748.1_Nonsense_Mutation_p.R743*|CTNND1_ENST00000361796.4_Nonsense_Mutation_p.R791*|CTNND1_ENST00000524630.1_Nonsense_Mutation_p.R791*|CTNND1_ENST00000526772.1_Nonsense_Mutation_p.R468*|CTNND1_ENST00000534579.1_Nonsense_Mutation_p.R737*|CTNND1_ENST00000532844.1_Nonsense_Mutation_p.R743*|CTNND1_ENST00000526357.1_Nonsense_Mutation_p.R737*|CTNND1_ENST00000532787.1_Nonsense_Mutation_p.R690*|CTNND1_ENST00000530094.1_Nonsense_Mutation_p.R690*	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	797					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CAAAAAGCTTCGAGAGACACA	0.433																																																	0													70	73	72					11																	57576892		1882	4108	5990	SO:0001587	stop_gained	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2389C>T	11.37:g.57576892C>T	ENSP00000382004:p.Arg797*		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R797*	ENST00000399050.4	37	c.2389	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	45	11.306780	0.99544	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6456	19.4356	0.94792	0.0:1.0:0.0:0.0	.	.	.	.	X	791;797;797;797;791;737;690;797;791;791;690;690;791;690;468;737;737;743;791;474;696;468;468;737;474;743;737;690;696;690;737;797	.	ENSP00000351527:R791X	R	+	1	2	CTNND1	57333468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.401000	0.44513	2.692000	0.91855	0.655000	0.94253	CGA	CTNND1	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000198561		0.433	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	-	0	70	0	C	NM_001331		57576892	1	tier1	-	no_errors	ENST00000399050	ensembl	human	known	74_37	nonsense	39.73	44	29	SNP	1.000	T	T	57576892	C	T	57576892	4	4	147	1	0	0	0	0	0	1	0	0	4028	876	31	1	2439	1	CTNND1	11	57576892	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	26247496	57576892	77429624	189	37544											
DDB1	1642	genome.wustl.edu	37	chr11	61068328	61068328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggggcggctaatatccaGgaaactctcaatcaagtcac	12	9	9	11	1	3	0	3	0	1	0	5	1	4	1	1	4	1	1	1	4	5	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:61068328G>A	ENST00000301764.7	-	26	3689	c.3292C>T	c.(3292-3294)Ctg>Ttg	p.L1098L	DDB1_ENST00000538470.1_Silent_p.L145L|DDB1_ENST00000450997.2_Silent_p.L409L|DDB1_ENST00000451943.2_Silent_p.L85L	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1098	Interaction with CDT1 and 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						CTAATATCCAGGAAACTCTCA	0.542								Nucleotide excision repair (NER)																																									0													175	149	158					11																	61068328		2203	4299	6502	SO:0001819	synonymous_variant	0			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.3292C>T	11.37:g.61068328G>A			A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.L1098	ENST00000301764.7	37	c.3292	CCDS31576.1	11																																																																																			DDB1	-	pfam_Cleavage/polyA-sp_fac_asu_C	ENSG00000167986		0.542	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	-	0	143	0	G	NM_001923		61068328	-1	tier1	-	no_errors	ENST00000301764	ensembl	human	known	74_37	silent	16.13	78	15	SNP	1.000	A	A	61068328	G	A	61068328	2	1	147	1	0	0	0	0	0	0	0	1	4332	991	35	3		3	DDB1	11	61068328	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	3491436	61068328	73938188	190	37545											
DAGLA	747	genome.wustl.edu	37	chr11	61488305	61488305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctggctgagcatgcgcgggGgcatcctctacacggagccc	6	7	14	14	3	2	1	0	1	2	0	3	2	3	2	2	4	4	3	2	4	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:61488305G>T	ENST00000257215.5	+	3	366	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	84					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)		CATGCGCGGGGGCATCCTCTA	0.652																																																	0													75	70	71					11																	61488305		2202	4299	6501	SO:0001583	missense	0			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.250G>T	11.37:g.61488305G>T	ENSP00000257215:p.Gly84Cys		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.G84C	ENST00000257215.5	37	c.250	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580830	0.65992	.	.	ENSG00000134780	ENST00000257215	T	0.24151	1.87	4.72	4.72	0.59763	.	0.094359	0.64402	D	0.000001	T	0.19967	0.0480	N	0.14661	0.345	0.46203	D	0.998926	P	0.47604	0.898	P	0.47786	0.557	T	0.01848	-1.1261	10	0.72032	D	0.01	-35.6556	9.5637	0.39385	0.1329:0.0:0.8671:0.0	.	84	Q9Y4D2	DGLA_HUMAN	C	84	ENSP00000257215:G84C	ENSP00000257215:G84C	G	+	1	0	DAGLA	61244881	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.771000	0.68881	2.337000	0.79520	0.561000	0.74099	GGC	DAGLA	-	NULL	ENSG00000134780		0.652	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	-	0	54	0	G	NM_006133		61488305	1	tier1	-	no_errors	ENST00000257215	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	61488305	G	T	61488305	3	4	147	1	0	0	0	0	1	0	0	0	4235	1232	43	3	256	3	DAGLA	11	61488305	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	419977	61488305	73518211	191	37546											
CCDC88B	283234	genome.wustl.edu	37	chr11	64117141	64117141	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaagaggagctgttccagGtgatgcctgcccgcctggga	7	8	16	10	1	0	2	0	1	0	1	1	5	1	5	4	4	3	2	4	4	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:64117141G>T	ENST00000356786.5	+	16	2906		c.e16+1		CCDC88B_ENST00000359902.2_Splice_Site|CCDC88B_ENST00000301897.4_Splice_Site|CCDC88B_ENST00000463837.1_Splice_Site	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B							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						GCTGTTCCAGGTGATGCCTGC	0.652																																																	0													21	28	25					11																	64117141		2191	4290	6481	SO:0001630	splice_region_variant	0			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.2862+1G>T	11.37:g.64117141G>T			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Splice_Site	SNP	-	e16+1	ENST00000356786.5	37	c.2862+1	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	-	14.64	2.595507	0.46318	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.37	0.55250	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC88B	63873717	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	2.375000	0.44283	2.189000	0.69895	0.436000	0.28706	.	CCDC88B	-	-	ENSG00000168071		0.652	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1		0	72	0	G	NM_032251	Intron	64117141	1			no_errors	ENST00000356786	ensembl	human	known	74_37	splice_site	6.90	27	2	SNP	1.000	T	T	64117141	G	T	64117141	5	4	147	1	0	0	0	0	0	0	1	0	2871	1275	44	3	2925	3	CCDC88B	11	64117141	Splice_Site	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2628836	64117141	70889375	192	37547											
FRMD8	83786	genome.wustl.edu	37	chr11	65172424	65172424	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacagtgcgactggctcGccctcggaccccagctcctc	6	6	11	18	3	0	0	0	0	0	0	4	3	1	2	4	3	2	2	4	3	0	0	rs149330420		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:65172424G>A	ENST00000317568.5	+	10	1324	c.1161G>A	c.(1159-1161)tcG>tcA	p.S387S	FRMD8_ENST00000355991.5_Silent_p.S331S|FRMD8_ENST00000416776.2_Silent_p.S353S	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						CGACTGGCTCGCCCTCGGACC	0.662																																																	0								G		1,4401	2.1+/-5.4	0,1,2200	35	36	35		1161	0.6	0	11	dbSNP_134	35	0,8586		0,0,4293	no	coding-synonymous	FRMD8	NM_031904.3		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		387/465	65172424	1,12987	2201	4293	6494	SO:0001819	synonymous_variant	0			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.1161G>A	11.37:g.65172424G>A			B4E2P1|Q86V56|Q8NCB5	Silent	SNP	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.S387	ENST00000317568.5	37	c.1161	CCDS8102.1	11																																																																																			FRMD8	-	NULL	ENSG00000126391		0.662	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD8	HGNC	protein_coding	OTTHUMT00000388833.1	-	0	82	0	G	NM_031904		65172424	1	tier1	rs149330420	no_errors	ENST00000317568	ensembl	human	known	74_37	silent	62.50	6	10	SNP	0.014	A	A	65172424	G	A	65172424	2	1	147	1	0	0	0	0	0	0	0	1	6080	1074	38	1		1	FRMD8	11	65172424	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1055283	65172424	69834092	193	37548											
PAAF1	80227	genome.wustl.edu	37	chr11	73625472	73625472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggtgaacgggaggttGgaacagaggccaaaatgctg	13	6	16	6	1	0	2	0	1	0	1	0	4	0	4	1	5	4	3	1	5	4	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:73625472G>A	ENST00000310571.3	+	8	795	c.742G>A	c.(742-744)Gga>Aga	p.G248R	PAAF1_ENST00000535604.1_Missense_Mutation_p.G133R|PAAF1_ENST00000544909.1_Missense_Mutation_p.G249R|PAAF1_ENST00000544552.1_Missense_Mutation_p.G231R|PAAF1_ENST00000376384.5_Missense_Mutation_p.G231R|PAAF1_ENST00000536003.1_Missense_Mutation_p.G231R|PAAF1_ENST00000541951.1_Missense_Mutation_p.G133R	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	248					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)					ACGGGAGGTTGGAACAGAGGC	0.478																																																	0													115	97	103					11																	73625472		2200	4293	6493	SO:0001583	missense	0			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.742G>A	11.37:g.73625472G>A	ENSP00000311665:p.Gly248Arg		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G248R	ENST00000310571.3	37	c.742	CCDS8226.1	11	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902556	0.92035	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;2.24;1.0;1.0	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.66056	0.2751	M	0.76002	2.32	0.50813	D	0.99989	D;D	0.89917	1.0;0.998	D;P	0.97110	1.0;0.863	T	0.67998	-0.5525	10	0.56958	D	0.05	-9.0385	17.7447	0.88416	0.0:0.0:1.0:0.0	.	231;248	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	R	133;248;231;231;133;231;231;112;231;249	ENSP00000441333:G133R;ENSP00000311665:G248R;ENSP00000439747:G231R;ENSP00000438894:G231R;ENSP00000438789:G133R;ENSP00000438124:G231R;ENSP00000441494:G231R;ENSP00000439877:G112R;ENSP00000365564:G231R;ENSP00000438071:G249R	ENSP00000311665:G248R	G	+	1	0	PAAF1	73303120	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.417000	0.73337	2.538000	0.85594	0.650000	0.86243	GGA	PAAF1	-	superfamily_WD40_repeat_dom	ENSG00000175575		0.478	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAAF1	HGNC	protein_coding	OTTHUMT00000397885.1	-	0	98	0	G	NM_025155		73625472	1	tier1	-	no_errors	ENST00000310571	ensembl	human	known	74_37	missense	36.92	41	24	SNP	1.000	A	A	73625472	G	A	73625472	3	1	147	1	0	0	0	0	1	0	0	0	11401	1349	47	3	772	3	PAAF1	11	73625472	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	8453048	73625472	61381044	194	37549											
LRRC32	2615	genome.wustl.edu	37	chr11	76371080	76371080	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggttctcggcaagattGagccgcttgaggcagatgaa	10	8	15	8	3	1	5	0	3	1	2	2	5	1	5	1	4	1	4	1	4	2	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:76371080G>T	ENST00000407242.2	-	3	1799	c.1557C>A	c.(1555-1557)ctC>ctA	p.L519L	LRRC32_ENST00000404995.1_Silent_p.L519L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Silent_p.L519L|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	519					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						CGGCAAGATTGAGCCGCTTGA	0.637																																																	0													43	42	42					11																	76371080		2200	4292	6492	SO:0001819	synonymous_variant	0			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.1557C>A	11.37:g.76371080G>T			Q86V06	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.L519	ENST00000407242.2	37	c.1557	CCDS8245.1	11																																																																																			LRRC32	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000137507		0.637	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0	57	0	G	NM_005512		76371080	-1	tier1	-	no_errors	ENST00000260061	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.998	T	T	76371080	G	T	76371080	2	4	147	1	0	0	0	0	0	0	0	1	9022	1277	45	3		3	LRRC32	11	76371080	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2745608	76371080	58635436	195	37550											
MLL	4297	genome.wustl.edu	37	chr11	118347598	118347598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagagcagctgttgccCttggccgaaaacgagctgtg	10	7	14	10	2	0	2	0	0	0	2	0	4	0	2	2	1	5	5	2	1	3	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:118347598C>A	ENST00000389506.5	+	4	3235	c.3235C>A	c.(3235-3237)Ctt>Att	p.L1079I	KMT2A_ENST00000534358.1_Missense_Mutation_p.L1079I|KMT2A_ENST00000354520.4_Missense_Mutation_p.L1079I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1079					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)										AGCTGTTGCCCTTGGCCGAAA	0.493																																																	0													146	136	139					11																	118347598		2200	4296	6496	SO:0001583	missense	0			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.3235C>A	11.37:g.118347598C>A	ENSP00000374157:p.Leu1079Ile		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.L1079I	ENST00000389506.5	37	c.3235	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864860	0.71949	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000533790;ENST00000389507	D;T;D;D	0.95205	-3.57;0.38;-3.56;-3.64	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.96470	0.8848	M	0.68593	2.085	0.58432	D	0.999995	D;D	0.69078	0.982;0.997	D;D	0.78314	0.952;0.991	D	0.96239	0.9174	10	0.66056	D	0.02	.	13.3657	0.60682	0.0:0.9285:0.0:0.0715	.	1079;1079	E9PQG7;Q03164	.;MLL1_HUMAN	I	1079;1112;1079;1079;157;99	ENSP00000436786:L1079I;ENSP00000432391:L1112I;ENSP00000374157:L1079I;ENSP00000346516:L1079I	ENSP00000346516:L1079I	L	+	1	0	MLL	117852808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.702000	0.54800	2.771000	0.95319	0.655000	0.94253	CTT	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	122	0	C	NM_005933		118347598	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A	A	118347598	C	A	118347598	3	1	147	1	0	0	0	0	1	0	0	0	9658	681	24	3	3249	3	MLL	11	118347598	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	41976518	118347598	16658918	196	37551											
MLL	4297	genome.wustl.edu	37	chr11	118362639	118362639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccatttgctacgctaccGgcaggtaggccaagtctcat	9	9	10	13	2	1	0	1	0	1	0	2	0	1	0	3	3	4	4	3	3	4	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:118362639G>T	ENST00000389506.5	+	15	4991	c.4991G>T	c.(4990-4992)cGg>cTg	p.R1664L	KMT2A_ENST00000534358.1_Missense_Mutation_p.R1667L|KMT2A_ENST00000354520.4_Missense_Mutation_p.R1626L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1664					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)										CTACGCTACCGGCAGGTAGGC	0.423																																																	0													30	30	30					11																	118362639		2200	4296	6496	SO:0001583	missense	0			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.4991G>T	11.37:g.118362639G>T	ENSP00000374157:p.Arg1664Leu		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.R1664L	ENST00000389506.5	37	c.4991	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603763	0.66445	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82803	-1.65;-1.65;-1.59	5.75	5.75	0.90469	Bromodomain (1);	0.117279	0.56097	D	0.000026	D	0.87148	0.6105	L	0.36672	1.1	0.53688	D	0.999973	D;D	0.65815	0.994;0.995	P;P	0.62885	0.908;0.891	D	0.87228	0.2258	10	0.56958	D	0.05	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	1667;1664	E9PQG7;Q03164	.;MLL1_HUMAN	L	1667;1664;1626;574	ENSP00000436786:R1667L;ENSP00000374157:R1664L;ENSP00000346516:R1626L	ENSP00000346516:R1626L	R	+	2	0	MLL	117867849	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.327000	0.65881	2.708000	0.92522	0.650000	0.86243	CGG	KMT2A	-	smart_Bromodomain,pirsf_MeTrfase_trithorax	ENSG00000118058		0.423	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	51	0	G	NM_005933		118362639	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	118362639	G	T	118362639	3	4	147	1	0	0	0	0	1	0	0	0	9658	1116	39	2	5049	2	MLL	11	118362639	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	15041	118362639	16643877	197	37552											
ALG10B	144245	genome.wustl.edu	37	chr12	38714830	38714830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatagttcctcagaaactgCtggaatttcgttacttcatt	10	17	6	8	1	2	1	2	0	0	1	4	2	3	2	1	1	3	3	1	1	5	7			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:38714830C>A	ENST00000308742.4	+	3	1553	c.1237C>A	c.(1237-1239)Ctg>Atg	p.L413M	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	413					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)				TCAGAAACTGCTGGAATTTCG	0.353																																																	0													181	181	181					12																	38714830		2203	4300	6503	SO:0001583	missense	0			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.1237C>A	12.37:g.38714830C>A	ENSP00000310120:p.Leu413Met		B2RPF4	Missense_Mutation	SNP	pfam_Alg10,pirsf_Alg10	p.L413M	ENST00000308742.4	37	c.1237	CCDS31772.1	12	.	.	.	.	.	.	.	.	.	.	c	14.92	2.679785	0.47886	.	.	ENSG00000175548	ENST00000308742	T	0.59083	0.29	3.34	2.45	0.29901	.	0.138212	0.50627	D	0.000120	T	0.74635	0.3742	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.76302	-0.3009	10	0.66056	D	0.02	.	8.8547	0.35221	0.0:0.8848:0.0:0.1152	.	413	Q5I7T1	AG10B_HUMAN	M	413	ENSP00000310120:L413M	ENSP00000310120:L413M	L	+	1	2	ALG10B	37001097	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.343000	0.44001	0.984000	0.38629	0.655000	0.94253	CTG	ALG10B	-	pfam_Alg10,pirsf_Alg10	ENSG00000175548		0.353	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10B	HGNC	protein_coding	OTTHUMT00000403349.1		0	28	0	C	NM_001013620		38714830	1			no_errors	ENST00000308742	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	38714830	C	A	38714830	3	1	147	1	0	0	0	0	1	0	0	0	512	796	28	3	1247	3	ALG10B	12	38714830	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09		38714830	95137065	198	37553											
CPNE8	144402	genome.wustl.edu	37	chr12	39071262	39071262	+	Missense_Mutation	SNP	T	T	C	0	1	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	acccccacttacattaactaTggactccttagtctgggcca	10	11	6	14	0	1	0	0	0	1	0	2	1	2	1	4	2	2	0	4	2	4	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:39071262T>C	ENST00000331366.5	-	17	1462	c.1366A>G	c.(1366-1368)Ata>Gta	p.I456V	CPNE8_ENST00000360449.3_Missense_Mutation_p.I444V|CPNE8_ENST00000538596.2_Missense_Mutation_p.I125V|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	456	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ACATTAACTATGGACTCCTTA	0.413																																																	0													107	100	102					12																	39071262		2203	4300	6503	SO:0001583	missense	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1366A>G	12.37:g.39071262T>C	ENSP00000329748:p.Ile456Val		Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.I456V	ENST00000331366.5	37	c.1366	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095196	0.56075	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.27890	1.64;1.64;1.64	4.72	4.72	0.59763	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	L	0.55481	1.735	0.80722	D	1	B	0.22983	0.078	B	0.33690	0.168	T	0.11717	-1.0576	10	0.30854	T	0.27	-23.6773	13.8868	0.63712	0.0:0.0:0.0:1.0	.	456	Q86YQ8	CPNE8_HUMAN	V	456;125;444	ENSP00000329748:I456V;ENSP00000439237:I125V;ENSP00000353633:I444V	ENSP00000329748:I456V	I	-	1	0	CPNE8	37357529	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.341000	0.79300	2.050000	0.60909	0.528000	0.53228	ATA	CPNE8	-	pfam_Copine,smart_VWF_A,pfscan_VWF_A	ENSG00000139117		0.413	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	-	0	68	0	T	NM_153634		39071262	-1	tier1	-	no_errors	ENST00000331366	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	C	C	39071262	T	C	39071262	3	2	147	1	0	0	0	0	1	0	0	0	3825	1464	51	4	344	4	CPNE8	12	39071262	Missense_Mutation	SNP	T	TCGA-R6-A6Y2-01B-11D-A33E-09	356432	39071262	94780633	199	37554											
OSBPL8	114882	genome.wustl.edu	37	chr12	76783476	76783476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagtttatccaggaaaGaacggggttccaaaataaat	17	9	9	6	1	0	2	0	1	0	1	2	3	2	3	2	3	1	2	2	3	8	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:76783476G>T	ENST00000261183.3	-	12	1780	c.1301C>A	c.(1300-1302)tCt>tAt	p.S434Y	OSBPL8_ENST00000393250.4_Missense_Mutation_p.S392Y|OSBPL8_ENST00000393249.2_Missense_Mutation_p.S392Y	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	434					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						ATCCAGGAAAGAACGGGGTTC	0.363																																																	0													122	125	124					12																	76783476		2203	4300	6503	SO:0001583	missense	0			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.1301C>A	12.37:g.76783476G>T	ENSP00000261183:p.Ser434Tyr		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S434Y	ENST00000261183.3	37	c.1301	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.138199	0.94560	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90746	0.4653	10	0.87932	D	0	-11.8956	19.982	0.97329	0.0:0.0:1.0:0.0	.	409;434	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	Y	392;434;419;392;434;434;409	ENSP00000376939:S392Y;ENSP00000261183:S434Y;ENSP00000376940:S392Y;ENSP00000450238:S434Y;ENSP00000447893:S409Y	ENSP00000261183:S434Y	S	-	2	0	OSBPL8	75307607	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	TCT	OSBPL8	-	pfam_Oxysterol-bd	ENSG00000091039		0.363	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	-	0	56	0	G	NM_020841		76783476	-1	tier1	-	no_errors	ENST00000261183	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	76783476	G	T	76783476	3	4	147	1	0	0	0	0	1	0	0	0	11322	942	33	3	1420	3	OSBPL8	12	76783476	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	37712214	76783476	57068419	200	37555											
C12orf63	144535	genome.wustl.edu	37	chr12	97102427	97102427	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcttgcctgcagttctGgttacaattggccaaccaca	11	10	9	11	0	1	0	0	0	1	0	1	0	1	0	3	3	4	4	3	3	4	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:97102427G>T	ENST00000524981.4	+	48	6593	c.6570G>T	c.(6568-6570)ctG>ctT	p.L2190L				Q96N23	CL055_HUMAN		0																	CTGCAGTTCTGGTTACAATTG	0.303																																																	0													77	79	78					12																	97102427		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000524981.4:c.6570G>T	12.37:g.97102427G>T				Silent	SNP	superfamily_Fibronectin_type3	p.L2190	ENST00000524981.4	37	c.6570		12																																																																																			C12orf55	-	NULL	ENSG00000188596		0.303	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	-	0	37	0	G			97102427	1	tier1	-	no_errors	ENST00000524981	ensembl	human	putative	74_37	silent	6.06	62	4	SNP	0.023	T	T	97102427	G	T	97102427	2	4	147	1	0	0	0	0	0	0	0	1	1711	1335	47	3		3	C12orf63	12	97102427	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	20318951	97102427	36749468	201	37556											
NAA25	80018	genome.wustl.edu	37	chr12	112528595	112528595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcatctgtgggttcaaggGctgccacctcctgtgcaaga	7	11	12	11	0	3	1	2	0	1	1	4	1	4	1	3	2	2	3	3	2	2	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:112528595G>A	ENST00000261745.4	-	3	466	c.218C>T	c.(217-219)gCc>gTc	p.A73V		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	73						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGGTTCAAGGGCTGCCACCTC	0.423																																																	0													157	141	146					12																	112528595		2203	4300	6503	SO:0001583	missense	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.218C>T	12.37:g.112528595G>A	ENSP00000261745:p.Ala73Val		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.A73V	ENST00000261745.4	37	c.218	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142580	0.37825	.	.	ENSG00000111300	ENST00000261745	T	0.39229	1.09	5.4	4.51	0.55191	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.191847	0.45867	D	0.000337	T	0.28234	0.0697	N	0.16790	0.44	0.42758	D	0.993792	B;B	0.12013	0.001;0.005	B;B	0.06405	0.001;0.002	T	0.04165	-1.0972	10	0.31617	T	0.26	-2.8497	14.3068	0.66389	0.0715:0.0:0.9285:0.0	.	73;73	A8K8X0;Q14CX7	.;NAA25_HUMAN	V	73	ENSP00000261745:A73V	ENSP00000261745:A73V	A	-	2	0	NAA25	111012978	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	3.671000	0.54576	1.269000	0.44280	0.650000	0.86243	GCC	NAA25	-	pfscan_TPR-contain_dom	ENSG00000111300		0.423	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	-	0	101	0	G	NM_024953		112528595	-1	tier1	-	no_errors	ENST00000261745	ensembl	human	known	74_37	missense	6.45	57	4	SNP	1.000	A	A	112528595	G	A	112528595	3	1	147	1	0	0	0	0	1	0	0	0	10159	1203	42	3	2788	3	NAA25	12	112528595	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	15426168	112528595	21323300	202	37557											
RSRC2	65117	genome.wustl.edu	37	chr12	122990142	122990142	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	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	tcctctttgtgtgtgggtttGtgatcttgccatttcatact	4	20	9	8	0	3	1	1	1	2	0	4	1	4	1	2	1	2	1	2	1	1	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:122990142G>A	ENST00000331738.7	-	10	1382	c.1237C>T	c.(1237-1239)Caa>Taa	p.Q413*	RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q365*|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	413							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GTGTGGGTTTGTGATCTTGCC	0.398																																																	0													197	163	175					12																	122990142		2203	4300	6503	SO:0001587	stop_gained	0			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.1237C>T	12.37:g.122990142G>A	ENSP00000330188:p.Gln413*		Q6N040|Q6NW16|Q9H864	Nonsense_Mutation	SNP	NULL	p.Q413*	ENST00000331738.7	37	c.1237	CCDS31920.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.785443	0.96937	.	.	ENSG00000111011	ENST00000331738;ENST00000354654	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6396	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	413;365	.	ENSP00000330188:Q413X	Q	-	1	0	RSRC2	121556095	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.357000	0.97099	2.881000	0.98747	0.650000	0.86243	CAA	RSRC2	-	NULL	ENSG00000111011		0.398	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC2	HGNC	protein_coding	OTTHUMT00000395096.3	-	0	53	0	G	NM_023012		122990142	-1	tier1	-	no_errors	ENST00000331738	ensembl	human	known	74_37	nonsense	32.26	41	20	SNP	1.000	A	A	122990142	G	A	122990142	4	1	147	1	0	0	0	0	0	1	0	0	13760	1386	48	3	71	3	RSRC2	12	122990142	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	10461547	122990142	10861753	203	37558											
OGFOD2	79676	genome.wustl.edu	37	chr12	123461463	123461463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtgactgagtacagcGtgtccccagacgcagacctc	8	7	12	14	3	0	4	0	2	0	2	2	4	1	4	4	1	2	2	4	1	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:123461463G>T	ENST00000228922.7	+	4	381	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L	OGFOD2_ENST00000454694.2_5'UTR|OGFOD2_ENST00000538628.1_5'UTR|ABCB9_ENST00000392439.3_5'Flank|ABCB9_ENST00000542678.1_Intron|ABCB9_ENST00000442028.2_5'Flank|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000545612.1_5'UTR|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000536150.1_5'UTR|OGFOD2_ENST00000397389.2_Missense_Mutation_p.V57L|OGFOD2_ENST00000538755.1_5'UTR|OGFOD2_ENST00000545317.1_5'UTR			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	117							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)	TGAGTACAGCGTGTCCCCAGA	0.652																																																	0													51	57	55					12																	123461463		2106	4223	6329	SO:0001583	missense	0			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.349G>T	12.37:g.123461463G>T	ENSP00000228922:p.Val117Leu		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	smart_Pro_4_hyd_alph	p.V117L	ENST00000228922.7	37	c.349		12	.	.	.	.	.	.	.	.	.	.	G	4.991	0.184116	0.09495	.	.	ENSG00000111325	ENST00000397389;ENST00000228922;ENST00000537966	D;D	0.85411	-1.98;-1.98	5.3	-2.73	0.05950	.	1.233450	0.05165	N	0.498522	T	0.67822	0.2934	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.21381	0.055;0.001;0.001	B;B;B	0.22880	0.042;0.01;0.003	T	0.54437	-0.8294	10	0.13470	T	0.59	2.9015	12.7296	0.57191	0.7298:0.0:0.2702:0.0	.	98;117;57	B4DZU3;Q6N063;Q6N063-2	.;OGFD2_HUMAN;.	L	57;117;190	ENSP00000380544:V57L;ENSP00000228922:V117L	ENSP00000228922:V117L	V	+	1	0	OGFOD2	122027416	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.884000	0.04166	-0.652000	0.05408	-0.355000	0.07637	GTG	OGFOD2	-	NULL	ENSG00000111325		0.652	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	OGFOD2	HGNC	protein_coding	OTTHUMT00000400984.1	-	0	117	0	G	NM_024623		123461463	1	tier1	-	no_errors	ENST00000228922	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.000	T	T	123461463	G	T	123461463	3	4	147	1	0	0	0	0	1	0	0	0	10881	1145	40	2	179	2	OGFOD2	12	123461463	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	471321	123461463	10390432	204	37559											
NEK3	4752	genome.wustl.edu	37	chr13	52718962	52718962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcataggagtaatgagacGgcagtggactgatgcaccct	11	9	13	8	1	1	2	1	2	0	1	1	5	1	4	1	3	1	4	1	3	2	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:52718962G>A	ENST00000400357.2	-	8	1961	c.668C>T	c.(667-669)cCg>cTg	p.P223L	NEK3_ENST00000339406.3_Missense_Mutation_p.P223L|NEK3_ENST00000378101.2_Missense_Mutation_p.P223L|NEK3_ENST00000452082.2_Missense_Mutation_p.P244L			P51956	NEK3_HUMAN	NIMA-related kinase 3	223	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GTAATGAGACGGCAGTGGACT	0.433																																																	0													103	108	107					13																	52718962		1963	4148	6111	SO:0001583	missense	0			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.668C>T	13.37:g.52718962G>A	ENSP00000383210:p.Pro223Leu		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P244L	ENST00000400357.2	37	c.731	CCDS53871.1	13	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181770	0.57800	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.52526	1.69;1.69;1.69;1.69;0.66	6.02	5.18	0.71444	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	0.70518	0.3233	.	.	.	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	P;D;D	0.97110	0.902;1.0;1.0	T	0.75755	-0.3206	9	0.87932	D	0	.	15.264	0.73646	0.067:0.0:0.933:0.0	.	223;244;217	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	L	223;223;223;244;217	ENSP00000339429:P223L;ENSP00000367341:P223L;ENSP00000383210:P223L;ENSP00000404197:P244L;ENSP00000448716:P217L	ENSP00000448782:P223L	P	-	2	0	NEK3	51616963	1.000000	0.71417	0.855000	0.33649	0.000000	0.00434	8.424000	0.90267	1.565000	0.49641	-0.229000	0.12294	CCG	NEK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000136098		0.433	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	NEK3	HGNC	protein_coding	OTTHUMT00000045047.3	-	0	59	0	G			52718962	-1	tier1	-	no_errors	ENST00000452082	ensembl	human	known	74_37	missense	12.50	41	6	SNP	0.999	A	A	52718962	G	A	52718962	3	1	147	1	0	0	0	0	1	0	0	0	10364	1116	39	1	884	1	NEK3	13	52718962	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09		52718962	62450916	205	37560											
THSD1	55901	genome.wustl.edu	37	chr13	52972299	52972299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctacatggcctggctctCtcaagagaagatattcagct	10	11	10	10	0	3	2	2	0	1	2	4	3	3	2	1	2	3	3	1	2	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:52972299C>A	ENST00000258613.4	-	3	267	c.89G>T	c.(88-90)aGa>aTa	p.R30I	THSD1_ENST00000349258.4_Missense_Mutation_p.R30I|RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	30					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GCCTGGCTCTCTCAAGAGAAG	0.408																																																	0													111	103	106					13																	52972299		2203	4300	6503	SO:0001583	missense	0			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.89G>T	13.37:g.52972299C>A	ENSP00000258613:p.Arg30Ile		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R30I	ENST00000258613.4	37	c.89	CCDS9432.1	13	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947855	0.53186	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.18502	2.21;2.4	5.87	4.08	0.47627	.	0.777057	0.12337	N	0.477865	T	0.10937	0.0267	N	0.14661	0.345	0.41324	D	0.987197	P;P	0.44309	0.755;0.832	B;B	0.41813	0.367;0.352	T	0.12502	-1.0545	10	0.38643	T	0.18	-1.9403	7.0419	0.25025	0.1414:0.7023:0.0:0.1563	.	30;30	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	I	30	ENSP00000340650:R30I;ENSP00000258613:R30I	ENSP00000258613:R30I	R	-	2	0	THSD1	51870300	0.995000	0.38212	0.626000	0.29213	0.894000	0.52154	2.236000	0.43052	0.754000	0.32968	0.655000	0.94253	AGA	THSD1	-	NULL	ENSG00000136114		0.408	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	-	0	50	0	C			52972299	-1	tier1	-	no_errors	ENST00000258613	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.670	A	A	52972299	C	A	52972299	3	1	147	1	0	0	0	0	1	0	0	0	15924	913	32	3	2481	3	THSD1	13	52972299	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	253337	52972299	62197579	206	37561											
PCDH9	5101	genome.wustl.edu	37	chr13	67801630	67801630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctatctaaggacctctGaactgtaatcagcccagtag	11	11	7	12	0	4	1	1	1	3	0	5	2	4	2	2	1	2	2	2	1	5	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:67801630G>T	ENST00000377865.2	-	1	1077	c.943C>A	c.(943-945)Cag>Aag	p.Q315K	PCDH9_ENST00000328454.5_Missense_Mutation_p.Q315K|PCDH9_ENST00000544246.1_Missense_Mutation_p.Q315K|PCDH9_ENST00000456367.1_Missense_Mutation_p.Q315K|PCDH9_ENST00000377861.3_Missense_Mutation_p.Q315K			Q9HC56	PCDH9_HUMAN	protocadherin 9	315	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGGACCTCTGAACTGTAATC	0.483																																																	0													88	89	89					13																	67801630		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.943C>A	13.37:g.67801630G>T	ENSP00000367096:p.Gln315Lys		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q315K	ENST00000377865.2	37	c.943	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	0.388	-0.924993	0.02377	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	6.17	6.17	0.99709	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	N	0.01789	-0.72	0.80722	D	1	B;B;B;B	0.11235	0.002;0.004;0.003;0.004	B;B;B;B	0.11329	0.004;0.006;0.003;0.006	T	0.33954	-0.9848	10	0.02654	T	1	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	315;315;315;315	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	K	315	ENSP00000442186:Q315K;ENSP00000367096:Q315K;ENSP00000401699:Q315K;ENSP00000332060:Q315K;ENSP00000367092:Q315K	ENSP00000332060:Q315K	Q	-	1	0	PCDH9	66699631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.941000	0.99782	0.655000	0.94253	CAG	PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000184226		0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	74	0	G	NM_203487		67801630	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	18.03	50	11	SNP	1.000	T	T	67801630	G	T	67801630	3	4	147	1	0	0	0	0	1	0	0	0	11557	1299	45	3	2786	3	PCDH9	13	67801630	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	14829331	67801630	47368248	207	37562											
PCDH9	5101	genome.wustl.edu	37	chr13	67802221	67802221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagaaatcattggggaGgatcaccacctcaagttcaa	14	8	9	10	0	4	2	4	1	0	1	4	4	4	4	3	3	0	1	3	3	4	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:67802221G>A	ENST00000377865.2	-	1	486	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	PCDH9_ENST00000328454.5_Missense_Mutation_p.L118F|PCDH9_ENST00000544246.1_Missense_Mutation_p.L118F|PCDH9_ENST00000456367.1_Missense_Mutation_p.L118F|PCDH9_ENST00000377861.3_Missense_Mutation_p.L118F			Q9HC56	PCDH9_HUMAN	protocadherin 9	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCATTGGGGAGGATCACCACC	0.398																																																	0													82	82	82					13																	67802221		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.352C>T	13.37:g.67802221G>A	ENSP00000367096:p.Leu118Phe		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L118F	ENST00000377865.2	37	c.352	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307819	0.40795	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.94	5.94	0.96194	Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.76328	2.33	0.58432	D	0.999999	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	0.19943	-1.0290	10	0.51188	T	0.08	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	118;118;118;118	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	F	118	ENSP00000442186:L118F;ENSP00000367096:L118F;ENSP00000401699:L118F;ENSP00000332060:L118F;ENSP00000367092:L118F	ENSP00000332060:L118F	L	-	1	0	PCDH9	66700222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.793000	0.75130	2.816000	0.96949	0.561000	0.74099	CTC	PCDH9	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000184226		0.398	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	29	0	G	NM_203487		67802221	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	A	A	67802221	G	A	67802221	3	1	147	1	0	0	0	0	1	0	0	0	11557	1000	35	3	3377	3	PCDH9	13	67802221	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	591	67802221	47367657	208	37563											
C13orf34	79866	genome.wustl.edu	37	chr13	73320213	73320213	+	Splice_Site	SNP	A	A	C	1	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	ataggagagactccactctcAggtatgtctcataataaaat	15	11	7	8	0	2	1	2	0	2	1	5	3	3	2	1	2	0	1	1	2	5	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:73320213A>C	ENST00000390667.5	+	9	967	c.870A>C	c.(868-870)tcA>tcC	p.S290S	BORA_ENST00000377815.3_Splice_Site_p.S220S	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	290					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)										CTCCACTCTCAGGTATGTCTC	0.328																																																	0													98	92	94					13																	73320213		1799	4072	5871	SO:0001630	splice_region_variant	0			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.871+1A>C	13.37:g.73320213A>C			B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Silent	SNP	prints_Aurora_borealis_protien	p.S290	ENST00000390667.5	37	c.870	CCDS9446.1	13																																																																																			BORA	-	NULL	ENSG00000136122		0.328	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	-	0	46	0	A	NM_024808	Silent	73320213	1	tier1	-	no_errors	ENST00000390667	ensembl	human	known	74_37	silent	8.22	67	6	SNP	1.000	C	C	73320213	A	C	73320213	5	2	147	1	0	0	0	0	0	0	1	0	1733	202	7	4	900	4	C13orf34	13	73320213	Splice_Site	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	5517992	73320213	41849665	209	37564											
SLITRK1	114798	genome.wustl.edu	37	chr13	84454169	84454169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttagagagcgagaccccagCgaacacgtccacaggcaggg	12	4	13	12	3	0	2	0	0	0	2	1	5	1	2	3	2	3	1	3	2	2	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:84454169C>G	ENST00000377084.2	-	1	2359	c.1474G>C	c.(1474-1476)Gct>Cct	p.A492P		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	492					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)		GAGACCCCAGCGAACACGTCC	0.537																																																	0													56	56	56					13																	84454169		2203	4300	6503	SO:0001583	missense	0			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.1474G>C	13.37:g.84454169C>G	ENSP00000366288:p.Ala492Pro		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A492P	ENST00000377084.2	37	c.1474	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104470	0.56291	.	.	ENSG00000178235	ENST00000377084	T	0.54279	0.58	5.22	5.22	0.72569	.	0.121135	0.56097	D	0.000022	T	0.65450	0.2692	L	0.59436	1.845	0.54753	D	0.999987	D	0.55605	0.972	P	0.57204	0.815	T	0.66630	-0.5875	10	0.54805	T	0.06	-7.6667	17.693	0.88273	0.0:1.0:0.0:0.0	.	492	Q96PX8	SLIK1_HUMAN	P	492	ENSP00000366288:A492P	ENSP00000366288:A492P	A	-	1	0	SLITRK1	83352170	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	2.544000	0.45761	2.603000	0.88011	0.655000	0.94253	GCT	SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000178235		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	-	0	71	0	C	NM_052910		84454169	-1	tier1	-	no_errors	ENST00000377084	ensembl	human	known	74_37	missense	20.55	58	15	SNP	1.000	G	G	84454169	C	G	84454169	3	3	147	1	0	0	0	0	1	0	0	0	14787	768	27	5	620	5	SLITRK1	13	84454169	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	11133956	84454169	30715709	210	37565											
SLITRK1	114798	genome.wustl.edu	37	chr13	84454948	84454948	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcggccgatcagggcattcTtgggaatgttttccagccat	7	12	11	11	2	2	0	1	0	1	0	4	2	3	1	3	3	1	2	3	3	1	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:84454948T>C	ENST00000377084.2	-	1	1580	c.695A>G	c.(694-696)aAg>aGg	p.K232R		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	232	LRRCT 1.				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)		CAGGGCATTCTTGGGAATGTT	0.522																																																	0													57	57	57					13																	84454948		2203	4300	6503	SO:0001583	missense	0			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.695A>G	13.37:g.84454948T>C	ENSP00000366288:p.Lys232Arg		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K232R	ENST00000377084.2	37	c.695	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	T	1.596	-0.527830	0.04112	.	.	ENSG00000178235	ENST00000377084	T	0.51574	0.7	4.72	4.72	0.59763	Cysteine-rich flanking region, C-terminal (1);	0.180286	0.49916	D	0.000132	T	0.29355	0.0731	N	0.16656	0.425	0.46725	D	0.999172	B	0.02656	0.0	B	0.04013	0.001	T	0.09818	-1.0657	10	0.10636	T	0.68	-10.7587	13.1692	0.59589	0.0:0.0:0.0:1.0	.	232	Q96PX8	SLIK1_HUMAN	R	232	ENSP00000366288:K232R	ENSP00000366288:K232R	K	-	2	0	SLITRK1	83352949	1.000000	0.71417	0.995000	0.50966	0.819000	0.46315	3.932000	0.56537	1.992000	0.58205	0.459000	0.35465	AAG	SLITRK1	-	smart_Cys-rich_flank_reg_C	ENSG00000178235		0.522	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	-	0	66	0	T	NM_052910		84454948	-1	tier1	-	no_errors	ENST00000377084	ensembl	human	known	74_37	missense	27.94	49	19	SNP	0.998	C	C	84454948	T	C	84454948	3	2	147	1	0	0	0	0	1	0	0	0	14787	1609	56	4	1399	4	SLITRK1	13	84454948	Missense_Mutation	SNP	T	TCGA-R6-A6Y2-01B-11D-A33E-09	779	84454948	30714930	211	37566											
TM9SF2	9375	genome.wustl.edu	37	chr13	100153989	100153989	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgcccggcctggcgccCgtcaacttctgcgacgaaga	7	7	11	16	5	2	1	1	0	1	1	2	3	2	1	4	2	4	0	4	2	3	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:100153989C>G	ENST00000376387.4	+	1	319	c.129C>G	c.(127-129)ccC>ccG	p.P43P	LINC00449_ENST00000366259.2_RNA	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	43					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.P43P(1)		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)					GCCTGGCGCCCGTCAACTTCT	0.657																																																	1	Substitution - coding silent(1)	endometrium(1)											37	42	40					13																	100153989		2203	4299	6502	SO:0001819	synonymous_variant	0			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.129C>G	13.37:g.100153989C>G			A8K399|Q2TAY5	Silent	SNP	pfam_EMP70	p.P43	ENST00000376387.4	37	c.129	CCDS9493.1	13																																																																																			TM9SF2	-	NULL	ENSG00000125304		0.657	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	HGNC	protein_coding	OTTHUMT00000045602.3	-	0	68	0	C			100153989	1	tier1	-	no_errors	ENST00000376387	ensembl	human	known	74_37	silent	16.67	30	6	SNP	0.986	G	G	100153989	C	G	100153989	2	3	147	1	0	0	0	0	0	0	0	1	16025	639	23	5		5	TM9SF2	13	100153989	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	15699041	100153989	15015889	212	37567											
COL4A1	1282	genome.wustl.edu	37	chr13	110823055	110823055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctcccggctaatcctGggaaacccacctcacccttt	7	9	8	17	1	1	0	1	0	0	0	3	1	3	1	5	3	1	2	5	3	2	2	rs372606485		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:110823055G>T	ENST00000375820.4	-	42	3702	c.3581C>A	c.(3580-3582)cCa>cAa	p.P1194Q		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1194	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)	p.P1194L(1)|p.P837L(1)		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)			GGCTAATCCTGGGAAACCCAC	0.567																																																	2	Substitution - Missense(2)	lung(2)											40	44	42					13																	110823055		2203	4300	6503	SO:0001583	missense	0			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.3581C>A	13.37:g.110823055G>T	ENSP00000364979:p.Pro1194Gln		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1194Q	ENST00000375820.4	37	c.3581	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318234	0.60524	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.97752	-4.52	5.21	5.21	0.72293	.	0.058094	0.64402	D	0.000001	D	0.97929	0.9319	L	0.39326	1.205	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98667	1.0686	10	0.48119	T	0.1	.	18.8249	0.92114	0.0:0.0:1.0:0.0	.	1194	P02462	CO4A1_HUMAN	Q	837;1194;843	ENSP00000364979:P1194Q	ENSP00000364973:P837Q	P	-	2	0	COL4A1	109621056	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	7.572000	0.82409	2.433000	0.82419	0.650000	0.86243	CCA	COL4A1	-	pfam_Collagen	ENSG00000187498		0.567	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3		0	75	0	G			110823055	-1			no_errors	ENST00000375820	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	110823055	G	T	110823055	3	4	147	1	0	0	0	0	1	0	0	0	3696	1348	47	3	1472	3	COL4A1	13	110823055	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	10669066	110823055	4346823	213	37568											
IL25	64806	genome.wustl.edu	37	chr14	23844855	23844855	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggacagagacttgaaccgGctcccccaggacctgtacca	10	7	10	14	1	0	2	0	1	0	1	1	5	1	4	5	3	2	2	5	3	2	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:23844855G>A	ENST00000329715.2	+	2	558	c.300G>A	c.(298-300)cgG>cgA	p.R100R	CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000359320.3_5'Flank|IL25_ENST00000397242.2_Silent_p.R84R|CMTM5_ENST00000382809.2_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	100					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		ACTTGAACCGGCTCCCCCAGG	0.647																																																	0													99	102	101					14																	23844855		2203	4300	6503	SO:0001819	synonymous_variant	0			AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"Interleukins and interleukin receptors"	13765	protein-coding gene	gene with protein product		605658	"interleukin 17E"	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.300G>A	14.37:g.23844855G>A			Q2M3F0|Q8IZV3|Q8WXB0	Silent	SNP	pfam_IL-17_fam	p.R100	ENST00000329715.2	37	c.300	CCDS9597.1	14																																																																																			IL25	-	pfam_IL-17_fam	ENSG00000166090		0.647	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL25	HGNC	protein_coding	OTTHUMT00000071789.2		0	135	0	G			23844855	1			no_errors	ENST00000329715	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	A	A	23844855	G	A	23844855	2	1	147	1	0	0	0	0	0	0	0	1	7705	1190	42	3		3	IL25	14	23844855	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09		23844855	83504685	214	37569											
RALGAPA1	253959	genome.wustl.edu	37	chr14	36096989	36096989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggactctcaaagagttcaGgagaaagttcagtactttca	13	12	9	7	0	4	2	4	0	1	2	5	4	4	3	0	2	1	3	0	2	3	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:36096989G>T	ENST00000389698.3	-	33	5036	c.4646C>A	c.(4645-4647)cCt>cAt	p.P1549H	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.P1596H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1549H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1562H	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1549	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				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)	p.P1549L(2)		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						AAAGAGTTCAGGAGAAAGTTC	0.418																																																	2	Substitution - Missense(2)	lung(2)											36	36	36					14																	36096989		2202	4294	6496	SO:0001583	missense	0			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.4646C>A	14.37:g.36096989G>T	ENSP00000374348:p.Pro1549His		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.P1596H	ENST00000389698.3	37	c.4787	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054694	0.75960	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.96992	-3.46;-3.46;-3.47;-4.2;-3.46;-3.47	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.97782	0.9272	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.994	D;D;D;P	0.97110	1.0;0.959;0.995;0.827	D	0.98055	1.0390	10	0.62326	D	0.03	-14.7119	19.8741	0.96863	0.0:0.0:1.0:0.0	.	1596;1562;1549;1549	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	H	1549;1549;1549;1596;187;1562;1596	ENSP00000374348:P1549H;ENSP00000302647:P1549H;ENSP00000258840:P1596H;ENSP00000451133:P187H;ENSP00000371803:P1562H;ENSP00000451877:P1596H	ENSP00000258840:P1596H	P	-	2	0	RALGAPA1	35166740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.747000	0.98863	2.761000	0.94854	0.655000	0.94253	CCT	RALGAPA1	-	NULL	ENSG00000174373		0.418	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1		0	54	0	G	XM_210022		36096989	-1			no_errors	ENST00000258840	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	36096989	G	T	36096989	3	4	147	1	0	0	0	0	1	0	0	0	13058	1000	35	3	1649	3	RALGAPA1	14	36096989	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	12252134	36096989	71252551	215	37570											
SYNE2	23224	genome.wustl.edu	37	chr14	64596818	64596818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaggtacacagaactcaGcagccctttcgtcactgaga	12	7	9	13	1	2	2	2	1	0	2	3	3	2	2	2	1	5	2	2	1	2	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:64596818G>T	ENST00000344113.4	+	76	14404	c.14192G>T	c.(14191-14193)aGc>aTc	p.S4731I	SYNE2_ENST00000358025.3_Missense_Mutation_p.S4731I|SYNE2_ENST00000357395.3_Missense_Mutation_p.S1116I|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1116I|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1365I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4648I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4731					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)		ACAGAACTCAGCAGCCCTTTC	0.488																																																	0													99	87	91					14																	64596818		2203	4300	6503	SO:0001583	missense	0			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.14192G>T	14.37:g.64596818G>T	ENSP00000341781:p.Ser4731Ile		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4731I	ENST00000344113.4	37	c.14192	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	7.012	0.556934	0.13436	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.57436	0.77;4.07;0.77;0.4;4.12;4.07	5.82	2.98	0.34508	.	0.187996	0.38326	N	0.001739	T	0.46946	0.1419	L	0.57536	1.79	0.35535	D	0.802552	B;P;P	0.48503	0.419;0.729;0.911	B;B;P	0.44811	0.308;0.222;0.461	T	0.59910	-0.7365	10	0.66056	D	0.02	.	4.8396	0.13483	0.256:0.2979:0.4461:0.0	.	1116;4731;4731	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	I	4731;1116;4731;4648;4648;1365;1116	ENSP00000350719:S4731I;ENSP00000349969:S1116I;ENSP00000341781:S4731I;ENSP00000452570:S4648I;ENSP00000450831:S1365I;ENSP00000378249:S1116I	ENSP00000261678:S4648I	S	+	2	0	SYNE2	63666571	1.000000	0.71417	0.998000	0.56505	0.277000	0.26821	1.820000	0.39032	1.466000	0.48025	0.655000	0.94253	AGC	SYNE2	-	NULL	ENSG00000054654		0.488	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	65	0	G	NM_182914		64596818	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.599	T	T	64596818	G	T	64596818	3	4	147	1	0	0	0	0	1	0	0	0	15493	971	34	3	14490	3	SYNE2	14	64596818	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	28499829	64596818	42752722	216	37571											
MAP3K9	4293	genome.wustl.edu	37	chr14	71209233	71209233	+	Frame_Shift_Del	DEL	G	G	-																															ctcggccagctcctgctcccGacgccgcagcagttcctcct																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:71209233delG	ENST00000554752.2	-	6	1401	c.1402delC	c.(1402-1404)cggfs	p.R468fs	MAP3K9_ENST00000554146.1_Frame_Shift_Del_p.R205fs|MAP3K9_ENST00000555993.2_Frame_Shift_Del_p.R468fs|MAP3K9_ENST00000381250.4_Frame_Shift_Del_p.R468fs|MAP3K9_ENST00000553414.1_Frame_Shift_Del_p.R162fs	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	468	Leucine-zipper 2.				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)		TCCTGCTCCCGACGCCGCAGC	0.617																																					GBM(114;411 1587 13539 28235 50070)												0													54	49	51					14																	71209233		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1402delC	14.37:g.71209233delG	ENSP00000451612:p.Arg468fs		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Frame_Shift_Del	DEL	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.R468fs	ENST00000554752.2	37	c.1402		14																																																																																			MAP3K9	-	pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam	ENSG00000006432		0.617	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2		0	64	0	G			71209233	-1	tier1		no_errors	ENST00000555993	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	1.000	-	-	71209233	G	-	71209233	7	5	147	1	0	1	0	1	0	0	0	0	9295	1057	37	0	1986	0	MAP3K9	14	71209233	Frame_Shift_Del	DEL	G	TCGA-R6-A6Y2-01B-11D-A33E-09	6612415	71209233	36140307	217	37572											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72117169	72117169	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagaatttcttcaactattgGgagagcgagttcggctcaaa	13	11	10	7	2	3	2	2	0	1	2	4	4	3	2	0	2	2	2	0	2	5	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:72117169G>T	ENST00000555818.1	+	5	2284	c.1936G>T	c.(1936-1938)Gga>Tga	p.G646*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.G646*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.G121*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.G646*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	646	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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)		TCAACTATTGGGAGAGCGAGT	0.443																																																	0													109	106	107					14																	72117169		2203	4300	6503	SO:0001587	stop_gained	0			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.1936G>T	14.37:g.72117169G>T	ENSP00000450832:p.Gly646*		J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.G646*	ENST00000555818.1	37	c.1936	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.046547	0.97231	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.6652	19.8756	0.96869	0.0:0.0:1.0:0.0	.	.	.	.	X	646;646;646;121;162	.	ENSP00000351352:G646X	G	+	1	0	SIPA1L1	71186922	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.420000	0.97426	2.768000	0.95171	0.655000	0.94253	GGA	SIPA1L1	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000197555		0.443	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1		0	63	0	G	NM_015556		72117169	1			no_errors	ENST00000555818	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	1.000	T	T	72117169	G	T	72117169	4	4	147	1	0	0	0	0	0	1	0	0	14374	1233	43	3	1950	3	SIPA1L1	14	72117169	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	907936	72117169	35232371	218	37573											
NUMB	8650	genome.wustl.edu	37	chr14	73822341	73822341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcagctcttaccttaaccGggaagctacattttccggtg	9	12	8	12	2	2	0	1	0	1	0	3	1	3	1	3	2	5	2	3	2	4	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:73822341G>T	ENST00000355058.3	-	4	397	c.119C>A	c.(118-120)cCg>cAg	p.P40Q	NUMB_ENST00000454166.4_Missense_Mutation_p.P40Q|NUMB_ENST00000554521.2_Missense_Mutation_p.P40Q|NUMB_ENST00000359560.3_Missense_Mutation_p.P40Q|NUMB_ENST00000559312.1_Missense_Mutation_p.P40Q|NUMB_ENST00000535282.1_Missense_Mutation_p.P40Q|NUMB_ENST00000544991.3_Missense_Mutation_p.P40Q|NUMB_ENST00000557597.1_Missense_Mutation_p.P40Q|NUMB_ENST00000555394.1_Missense_Mutation_p.P40Q|NUMB_ENST00000555738.2_Missense_Mutation_p.P40Q|NUMB_ENST00000554546.1_Missense_Mutation_p.P40Q|NUMB_ENST00000560335.1_Missense_Mutation_p.P40Q|NUMB_ENST00000555238.1_Missense_Mutation_p.P40Q|NUMB_ENST00000356296.4_Missense_Mutation_p.P40Q			P49757	NUMB_HUMAN	numb homolog (Drosophila)	40	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TACCTTAACCGGGAAGCTACA	0.413																																																	0													97	93	95					14																	73822341		2203	4300	6503	SO:0001583	missense	0			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.119C>A	14.37:g.73822341G>T	ENSP00000347169:p.Pro40Gln		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.P40Q	ENST00000355058.3	37	c.119	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108007	0.37242	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282;ENST00000326018;ENST00000555859;ENST00000555307;ENST00000554394;ENST00000555987;ENST00000554818	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.57;2.22;2.22;2.22;2.22	5.28	5.28	0.74379	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.254342	0.39146	N	0.001450	T	0.14657	0.0354	N	0.17474	0.49	0.41782	D	0.989824	B;B;P;B;B;B;B;B;B;B;B	0.37548	0.232;0.01;0.599;0.257;0.009;0.026;0.02;0.011;0.011;0.007;0.034	B;B;B;B;B;B;B;B;B;B;B	0.43508	0.422;0.017;0.42;0.246;0.027;0.075;0.046;0.033;0.021;0.027;0.166	T	0.07252	-1.0782	10	0.36615	T	0.2	-7.9348	12.8103	0.57635	0.0:0.0:0.72:0.28	.	40;40;40;40;40;40;40;40;40;40;40	B1P2N6;B1P2N5;B1P2N8;B1P2N7;G3V3R1;Q86SW5;B2RCI6;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;.;.;NUMB_HUMAN	Q	40	ENSP00000452416:P40Q;ENSP00000348644:P40Q;ENSP00000451117:P40Q;ENSP00000451300:P40Q;ENSP00000347169:P40Q;ENSP00000352563:P40Q;ENSP00000451625:P40Q;ENSP00000446001:P40Q;ENSP00000394025:P40Q;ENSP00000452069:P40Q;ENSP00000450817:P40Q;ENSP00000441258:P40Q;ENSP00000451326:P40Q;ENSP00000452357:P40Q;ENSP00000451374:P40Q;ENSP00000451559:P40Q;ENSP00000451959:P40Q	ENSP00000315193:P40Q	P	-	2	0	NUMB	72892094	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.590000	0.53979	2.738000	0.93877	0.655000	0.94253	CCG	NUMB	-	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	ENSG00000133961		0.413	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1	-	0	76	0	G			73822341	-1	tier1	-	no_errors	ENST00000355058	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	73822341	G	T	73822341	3	4	147	1	0	0	0	0	1	0	0	0	10790	1116	39	2	1876	2	NUMB	14	73822341	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1705172	73822341	33527199	219	37574											
VIPAR	63894	genome.wustl.edu	37	chr14	77917611	77917611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgtttcggctctttaGctgttcacgcccctcgtggg	4	13	12	12	3	2	0	1	0	1	0	4	1	2	0	2	2	2	5	2	2	2	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:77917611G>C	ENST00000553888.1	-	4	772	c.262C>G	c.(262-264)Cta>Gta	p.L88V	VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000327028.4_Missense_Mutation_p.L88V|VIPAS39_ENST00000557658.1_Missense_Mutation_p.L88V|VIPAS39_ENST00000343765.2_Missense_Mutation_p.L88V|VIPAS39_ENST00000556412.1_Missense_Mutation_p.L114V	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	88					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											CGGCTCTTTAGCTGTTCACGC	0.468																																																	0													303	235	258					14																	77917611		2203	4300	6503	SO:0001583	missense	0			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.262C>G	14.37:g.77917611G>C	ENSP00000452181:p.Leu88Val		B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	pfam_Golgin_subfamily_A_member_5	p.L88V	ENST00000553888.1	37	c.262	CCDS9862.1	14	.	.	.	.	.	.	.	.	.	.	g	1.511	-0.549499	0.03996	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000556412	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.09	3.27	0.37495	.	0.475735	0.23496	N	0.047543	T	0.26304	0.0642	N	0.22421	0.69	0.26368	N	0.976944	B	0.23735	0.09	B	0.28385	0.089	T	0.23440	-1.0188	10	0.11182	T	0.66	-6.4903	9.6858	0.40098	0.2252:0.0:0.7748:0.0	.	88	Q9H9C1	VIPAR_HUMAN	V	88;88;88;88;114	ENSP00000339122:L88V;ENSP00000452181:L88V;ENSP00000313098:L88V;ENSP00000452191:L88V;ENSP00000451857:L114V	ENSP00000313098:L88V	L	-	1	2	VIPAR	76987364	1.000000	0.71417	0.870000	0.34147	0.551000	0.35334	1.386000	0.34419	0.571000	0.29365	-0.213000	0.12676	CTA	VIPAS39	-	pfam_Golgin_subfamily_A_member_5	ENSG00000151445		0.468	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPAS39	HGNC	protein_coding	OTTHUMT00000414008.1	-	0	143	0	G	NM_022067		77917611	-1	tier1	-	no_errors	ENST00000343765	ensembl	human	known	74_37	missense	26.23	45	16	SNP	0.894	C	C	77917611	G	C	77917611	3	2	147	1	0	0	0	0	1	0	0	0	17217	962	34	5	1287	5	VIPAR	14	77917611	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	4095270	77917611	29431929	220	37575											
ADCK1	57143	genome.wustl.edu	37	chr14	78325584	78325584	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacagagcagcatgcaaGagatccgccaggtcatccga	12	5	10	14	2	1	2	1	0	0	2	4	4	4	2	4	1	3	3	4	1	1	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:78325584G>T	ENST00000238561.5	+	4	484	c.385G>T	c.(385-387)Gag>Tag	p.E129*	ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	136						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CAGCATGCAAGAGATCCGCCA	0.612																																																	0													52	50	51					14																	78325584		2203	4300	6503	SO:0001587	stop_gained	0			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.385G>T	14.37:g.78325584G>T	ENSP00000238561:p.Glu129*		B3KUD5|Q6PD65|Q9UIE6	Nonsense_Mutation	SNP	pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom	p.E129*	ENST00000238561.5	37	c.385	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.684246	0.96774	.	.	ENSG00000063761	ENST00000238561;ENST00000557501	.	.	.	5.47	5.47	0.80525	.	0.165964	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-32.3391	19.3013	0.94145	0.0:0.0:1.0:0.0	.	.	.	.	X	129	.	ENSP00000238561:E129X	E	+	1	0	ADCK1	77395337	1.000000	0.71417	0.936000	0.37596	0.990000	0.78478	6.293000	0.72731	2.560000	0.86352	0.561000	0.74099	GAG	ADCK1	-	NULL	ENSG00000063761		0.612	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	-	0	60	0	G	NM_020421		78325584	1	tier1	-	no_errors	ENST00000238561	ensembl	human	known	74_37	nonsense	53.33	14	16	SNP	1.000	T	T	78325584	G	T	78325584	4	4	147	1	0	0	0	0	0	1	0	0	288	943	33	3	395	3	ADCK1	14	78325584	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	407973	78325584	29023956	221	37576											
PRIMA1	145270	genome.wustl.edu	37	chr14	94187869	94187869	+	Frame_Shift_Del	DEL	T	T	-																															actcagcaacgctggtgccaTtttcgtcttttctcagtggt																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:94187869delT	ENST00000393140.1	-	5	485	c.383delA	c.(382-384)aatfs	p.N128fs	PRIMA1_ENST00000393143.1_Frame_Shift_Del_p.N128fs|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	128					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)		GCTGGTGCCATTTTCGTCTTT	0.562																																																	0													116	85	95					14																	94187869		2203	4300	6503	SO:0001589	frameshift_variant	0				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.383delA	14.37:g.94187869delT	ENSP00000376848:p.Asn128fs		Q86XR6	Frame_Shift_Del	DEL	NULL	p.N128fs	ENST00000393140.1	37	c.383	CCDS9912.1	14																																																																																			PRIMA1	-	NULL	ENSG00000175785		0.562	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIMA1	HGNC	protein_coding	OTTHUMT00000280658.1		0	66	0	T	NM_178013		94187869	-1	tier1		no_errors	ENST00000393140	ensembl	human	known	74_37	frame_shift_del	11.11	24	3	DEL	0.976	-	-	94187869	T	-	94187869	7	5	147	1	0	1	0	1	0	0	0	0	12534	1493	52	0	82	0	PRIMA1	14	94187869	Frame_Shift_Del	DEL	T	TCGA-R6-A6Y2-01B-11D-A33E-09	15862285	94187869	13161671	222	37577											
SERPINA12	145264	genome.wustl.edu	37	chr14	94962837	94962837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctggtagggtatttccaGgatggtgcaagagagcttat	9	14	13	5	0	1	1	0	0	1	1	2	3	2	2	1	4	2	4	1	4	4	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:94962837G>T	ENST00000341228.2	-	4	1573	c.778C>A	c.(778-780)Ctg>Atg	p.L260M	SERPINA12_ENST00000556881.1_Missense_Mutation_p.L260M	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	260					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGTATTTCCAGGATGGTGCAA	0.458																																																	0													199	190	193					14																	94962837		2203	4300	6503	SO:0001583	missense	0			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.778C>A	14.37:g.94962837G>T	ENSP00000342109:p.Leu260Met			Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L260M	ENST00000341228.2	37	c.778	CCDS9926.1	14	.	.	.	.	.	.	.	.	.	.	G	13.49	2.254242	0.39896	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.91351	-2.83;-2.83	5.35	4.45	0.53987	Serpin domain (3);	0.000000	0.47093	D	0.000256	D	0.94414	0.8203	M	0.83483	2.645	0.30753	N	0.744923	D	0.76494	0.999	D	0.73380	0.98	D	0.92236	0.5796	10	0.66056	D	0.02	.	8.404	0.32603	0.0908:0.2893:0.6199:0.0	.	260	Q8IW75	SPA12_HUMAN	M	260	ENSP00000451738:L260M;ENSP00000342109:L260M	ENSP00000342109:L260M	L	-	1	2	SERPINA12	94032590	0.991000	0.36638	0.998000	0.56505	0.352000	0.29268	0.715000	0.25822	1.228000	0.43614	0.561000	0.74099	CTG	SERPINA12	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000165953		0.458	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA12	HGNC	protein_coding	OTTHUMT00000413097.1	-	0	124	0	G	NM_173850		94962837	-1	tier1	-	no_errors	ENST00000341228	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.994	T	T	94962837	G	T	94962837	3	4	147	1	0	0	0	0	1	0	0	0	14134	991	35	3	478	3	SERPINA12	14	94962837	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	774968	94962837	12386703	223	37578											
CDC42BPB	9578	genome.wustl.edu	37	chr14	103478444	103478444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatcttacctcaccaaaaGcacctcttccaattacttta	12	15	1	13	0	3	0	1	0	2	0	4	0	4	0	4	0	3	1	4	0	7	7			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:103478444G>T	ENST00000361246.2	-	2	545	c.257C>A	c.(256-258)gCt>gAt	p.A86D		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)		CTCACCAAAAGCACCTCTTCC	0.348																																																	0													110	104	106					14																	103478444		2203	4299	6502	SO:0001583	missense	0			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.257C>A	14.37:g.103478444G>T	ENSP00000355237:p.Ala86Asp			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.A86D	ENST00000361246.2	37	c.257	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863280	0.91511	.	.	ENSG00000198752	ENST00000361246	T	0.43294	0.95	5.5	5.5	0.81552	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	0.72028	0.3410	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78314	-0.2252	10	0.87932	D	0	.	18.1741	0.89756	0.0:0.0:1.0:0.0	.	86	Q9Y5S2	MRCKB_HUMAN	D	86	ENSP00000355237:A86D	ENSP00000355237:A86D	A	-	2	0	CDC42BPB	102548197	1.000000	0.71417	0.991000	0.47740	0.903000	0.53119	9.205000	0.95048	2.576000	0.86940	0.655000	0.94253	GCT	CDC42BPB	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000198752		0.348	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	-	0	69	0	G	NM_006035		103478444	-1	tier1	-	no_errors	ENST00000361246	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	103478444	G	T	103478444	3	4	147	1	0	0	0	0	1	0	0	0	3080	971	34	3	5022	3	CDC42BPB	14	103478444	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	8515607	103478444	3871096	224	37579											
GABRB3	2562	genome.wustl.edu	37	chr15	26792964	26792964	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaacatagtacagccagtaAactaagttgaaaagagaaaa	21	8	7	5	0	0	2	0	1	0	1	0	3	0	2	1	0	4	3	1	0	10	6			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:26792964A>C	ENST00000311550.5	-	9	1509	c.1398T>G	c.(1396-1398)gtT>gtG	p.V466V	GABRB3_ENST00000545868.1_Silent_p.V381V|GABRB3_ENST00000400188.3_Silent_p.V395V|GABRB3_ENST00000299267.4_Silent_p.V466V|GABRB3_ENST00000541819.2_Silent_p.V522V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	466					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)	ACAGCCAGTAAACTAAGTTGA	0.358																																																	0													94	79	84					15																	26792964		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1398T>G	15.37:g.26792964A>C			B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V466	ENST00000311550.5	37	c.1398	CCDS10019.1	15																																																																																			GABRB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000166206		0.358	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	-	0	23	0	A			26792964	-1	tier1	-	no_errors	ENST00000299267	ensembl	human	known	74_37	silent	37.50	5	3	SNP	1.000	C	C	26792964	A	C	26792964	2	2	147	1	0	0	0	0	0	0	0	1	6192	1	1	4		4	GABRB3	15	26792964	Silent	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09		26792964	75738428	225	37580											
ELL3	80237	genome.wustl.edu	37	chr15	44068113	44068113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcagtggaggctgttaGgcccagacctggaaaaggat	11	6	15	9	0	0	1	0	0	0	1	0	4	0	4	3	6	0	3	3	6	3	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:44068113G>T	ENST00000319359.3	-	4	931	c.290C>A	c.(289-291)cCt>cAt	p.P97H	SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	97					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GAGGCTGTTAGGCCCAGACCT	0.532											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													39	41	40					15																	44068113		2198	4298	6496	SO:0001583	missense	0			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.290C>A	15.37:g.44068113G>T	ENSP00000320346:p.Pro97His	921	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.P97H	ENST00000319359.3	37	c.290	CCDS10102.1	15	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651494	0.47362	.	.	ENSG00000128886	ENST00000319359;ENST00000433927	T;T	0.30182	1.54;1.54	5.67	3.82	0.43975	.	0.335704	0.25916	N	0.027471	T	0.49813	0.1579	M	0.75447	2.3	0.23611	N	0.997294	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.951	T	0.38908	-0.9639	10	0.52906	T	0.07	-24.3217	8.691	0.34267	0.1736:0.0:0.8264:0.0	.	97;51	Q9HB65;B3KQ66	ELL3_HUMAN;.	H	97;127	ENSP00000320346:P97H;ENSP00000404209:P127H	ENSP00000320346:P97H	P	-	2	0	ELL3	41855405	0.433000	0.25562	0.991000	0.47740	0.285000	0.27093	1.668000	0.37481	0.771000	0.33359	0.655000	0.94253	CCT	ELL3	-	pfam_RNA_pol_II_elong_fac_ELL	ENSG00000128886		0.532	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	HGNC	protein_coding	OTTHUMT00000133236.2	-	0	39	0	G	NM_025165		44068113	-1	tier1	-	no_errors	ENST00000319359	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.794	T	T	44068113	G	T	44068113	3	4	147	1	0	0	0	0	1	0	0	0	5080	1000	35	3	935	3	ELL3	15	44068113	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	17275149	44068113	58463279	226	37581											
LCTL	197021	genome.wustl.edu	37	chr15	66850360	66850360	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgttataagaatgccaGgctttggcgtgggcctgaaa	9	11	15	6	1	0	2	0	1	0	1	0	2	0	2	2	4	1	2	2	4	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:66850360G>T	ENST00000341509.5	-	7	851	c.720C>A	c.(718-720)gcC>gcA	p.A240A	LCTL_ENST00000537670.1_Silent_p.A67A	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	240			A -> T (in dbSNP:rs1030986).		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						AAGAATGCCAGGCTTTGGCGT	0.547																																																	0													128	114	119					15																	66850360		2201	4299	6500	SO:0001819	synonymous_variant	0			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.720C>A	15.37:g.66850360G>T			B3KQY0	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.A240	ENST00000341509.5	37	c.720	CCDS10220.1	15																																																																																			LCTL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000188501		0.547	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCTL	HGNC	protein_coding	OTTHUMT00000256921.2		0	154	0	G	NM_207338		66850360	-1			no_errors	ENST00000341509	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.998	T	T	66850360	G	T	66850360	2	4	147	1	0	0	0	0	0	0	0	1	8722	987	35	3		3	LCTL	15	66850360	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	22782247	66850360	35681032	227	37582											
TLE3	7090	genome.wustl.edu	37	chr15	70343732	70343732	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagacggtgggcagtacctGgaatatgctggctccataag	10	9	13	9	1	1	1	1	0	0	1	2	2	2	2	2	4	2	4	2	4	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:70343732G>A	ENST00000558939.1	-	19	3586	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	TLE3_ENST00000557997.1_Nonsense_Mutation_p.Q729*|TLE3_ENST00000558201.1_Nonsense_Mutation_p.Q743*|TLE3_ENST00000559191.1_Nonsense_Mutation_p.Q318*|TLE3_ENST00000557907.1_Nonsense_Mutation_p.Q729*|TLE3_ENST00000451782.2_Nonsense_Mutation_p.Q734*|TLE3_ENST00000560939.1_Nonsense_Mutation_p.Q739*|TLE3_ENST00000558379.1_Nonsense_Mutation_p.Q732*|TLE3_ENST00000442299.2_Nonsense_Mutation_p.Q729*|TLE3_ENST00000539550.1_Nonsense_Mutation_p.Q664*|TLE3_ENST00000440567.3_Nonsense_Mutation_p.Q727*|TLE3_ENST00000559048.1_Nonsense_Mutation_p.Q737*|TLE3_ENST00000559929.1_Nonsense_Mutation_p.Q747*|TLE3_ENST00000317509.8_Nonsense_Mutation_p.Q725*|TLE3_ENST00000560589.1_Nonsense_Mutation_p.Q681*	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	737					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						GGCAGTACCTGGAATATGCTG	0.542																																																	0													55	55	55					15																	70343732		2029	4202	6231	SO:0001587	stop_gained	0			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.2209C>T	15.37:g.70343732G>A	ENSP00000452871:p.Gln737*		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Nonsense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.Q737*	ENST00000558939.1	37	c.2209	CCDS45293.1	15	.	.	.	.	.	.	.	.	.	.	G	42	9.185437	0.99092	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	5.1799	17.358	0.87342	0.0:0.0:1.0:0.0	.	.	.	.	X	729;734;737;727;664	.	ENSP00000319233:Q737X	Q	-	1	0	TLE3	68130786	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.538000	0.98072	2.636000	0.89361	0.561000	0.74099	CAG	TLE3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	ENSG00000140332		0.542	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE3	HGNC	protein_coding	OTTHUMT00000416913.1	-	0	69	0	G	NM_005078		70343732	-1	tier1	-	no_errors	ENST00000558939	ensembl	human	known	74_37	nonsense	37.93	18	11	SNP	1.000	A	A	70343732	G	A	70343732	4	1	147	1	0	0	0	0	0	1	0	0	15987	1357	47	3	117	3	TLE3	15	70343732	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	3493372	70343732	32187660	228	37583											
EFTUD1	79631	genome.wustl.edu	37	chr15	82444463	82444463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcaaagaggatgtcaactGctccatagaacgaatcaaat	17	9	7	8	1	3	2	3	0	0	2	4	4	4	3	1	1	3	1	1	1	6	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:82444463G>T	ENST00000268206.7	-	18	2500	c.2332C>A	c.(2332-2334)Cag>Aag	p.Q778K	EFTUD1_ENST00000359445.3_Missense_Mutation_p.Q727K	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	778					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						GATGTCAACTGCTCCATAGAA	0.428																																																	0													109	100	103					15																	82444463		1871	4117	5988	SO:0001583	missense	0			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.2332C>A	15.37:g.82444463G>T	ENSP00000268206:p.Gln778Lys		A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.Q778K	ENST00000268206.7	37	c.2332	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407599	0.25378	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.24538	1.85;1.85	5.94	5.0	0.66597	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.289199	0.24200	N	0.040638	T	0.14830	0.0358	N	0.14661	0.345	0.54753	D	0.999985	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.06144	-1.0843	10	0.05833	T	0.94	-8.1131	16.3759	0.83392	0.0:0.0:0.8672:0.1328	.	727;778	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	K	778;727	ENSP00000268206:Q778K;ENSP00000352418:Q727K	ENSP00000268206:Q778K	Q	-	1	0	EFTUD1	80231518	1.000000	0.71417	0.657000	0.29651	0.830000	0.47004	9.096000	0.94182	1.468000	0.48064	0.563000	0.77884	CAG	EFTUD1	-	superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000140598		0.428	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	HGNC	protein_coding	OTTHUMT00000419252.1		0	51	0	G	NM_024580		82444463	-1			no_errors	ENST00000268206	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	82444463	G	T	82444463	3	4	147	1	0	0	0	0	1	0	0	0	4974	1328	46	3	1042	3	EFTUD1	15	82444463	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	12100731	82444463	20086929	229	37584											
AP3B2	8120	genome.wustl.edu	37	chr15	83348973	83348973	+	Frame_Shift_Del	DEL	T	T	-																															cgttctggagcacaacgtacTgcacctcactgcggagagga																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:83348973delT	ENST00000261722.3	-	9	1271	c.1064delA	c.(1063-1065)cagfs	p.Q355fs	AP3B2_ENST00000535348.1_Frame_Shift_Del_p.Q323fs|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Frame_Shift_Del_p.Q355fs	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	355					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CACAACGTACTGCACCTCACT	0.682																																																	0													32	37	36					15																	83348973		2076	4215	6291	SO:0001589	frameshift_variant	0			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1064delA	15.37:g.83348973delT	ENSP00000261722:p.Gln355fs		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Frame_Shift_Del	DEL	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.Q355fs	ENST00000261722.3	37	c.1064	CCDS45331.1	15																																																																																			AP3B2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000103723		0.682	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1		0	79	0	T			83348973	-1	tier1		no_errors	ENST00000261722	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	1.000	-	-	83348973	T	-	83348973	7	5	147	1	0	1	0	1	0	0	0	0	745	1580	55	0	2180	0	AP3B2	15	83348973	Frame_Shift_Del	DEL	T	TCGA-R6-A6Y2-01B-11D-A33E-09	904510	83348973	19182419	230	37585											
WHAMM	123720	genome.wustl.edu	37	chr15	83499796	83499796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcgaatcacctgctgagcGaccacgtgactccttggaaa	10	8	11	12	3	1	2	1	2	0	0	2	5	2	3	3	1	3	1	3	1	2	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:83499796G>A	ENST00000286760.4	+	9	2186	c.2087G>A	c.(2086-2088)cGa>cAa	p.R696Q		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	696	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						CCTGCTGAGCGACCACGTGAC	0.502																																																	0													110	116	114					15																	83499796		2166	4281	6447	SO:0001583	missense	0			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.2087G>A	15.37:g.83499796G>A	ENSP00000286760:p.Arg696Gln		Q8N1J9	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.R696Q	ENST00000286760.4	37	c.2087	CCDS45333.1	15	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933947	0.52866	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.08546	3.08	4.58	2.63	0.31362	.	1.934720	0.03032	N	0.152194	T	0.07234	0.0183	N	0.22421	0.69	0.09310	N	1	D	0.63046	0.992	B	0.42916	0.402	T	0.30090	-0.9990	10	0.23302	T	0.38	.	5.9043	0.18984	0.1053:0.1946:0.7001:0.0	.	696	Q8TF30	WHAMM_HUMAN	Q	696	ENSP00000286760:R696Q	ENSP00000234505:R696Q	R	+	2	0	WHAMM	81296850	0.000000	0.05858	0.000000	0.03702	0.254000	0.26022	0.598000	0.24074	0.503000	0.28060	0.205000	0.17691	CGA	WHAMM	-	NULL	ENSG00000156232		0.502	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	-	0	34	0	G			83499796	1	tier1	-	no_errors	ENST00000286760	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.001	A	A	83499796	G	A	83499796	3	1	147	1	0	0	0	0	1	0	0	0	17410	1058	37	1	2121	1	WHAMM	15	83499796	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	150823	83499796	19031596	231	37586											
AKAP13	11214	genome.wustl.edu	37	chr15	86118427	86118427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataccgtatggagactgttCtgtgaggcatcatcgagagt	11	11	12	7	2	2	3	1	1	1	2	3	5	2	3	1	2	1	3	1	2	3	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:86118427C>T	ENST00000394518.2	+	6	823	c.728C>T	c.(727-729)tCt>tTt	p.S243F	AKAP13_ENST00000361243.2_Missense_Mutation_p.S243F	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	243					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						GGAGACTGTTCTGTGAGGCAT	0.433																																					Melanoma(94;603 1453 3280 32295 32951)												0													155	146	149					15																	86118427		2202	4299	6501	SO:0001583	missense	0			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.728C>T	15.37:g.86118427C>T	ENSP00000378026:p.Ser243Phe		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.S243F	ENST00000394518.2	37	c.728	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823133	0.50739	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.63580	-0.05;-0.05	5.2	5.2	0.72013	.	.	.	.	.	T	0.49609	0.1567	N	0.22421	0.69	0.80722	D	1	B;B	0.23249	0.049;0.082	B;B	0.22386	0.018;0.039	T	0.45542	-0.9254	9	0.48119	T	0.1	.	14.4378	0.67293	0.0:1.0:0.0:0.0	.	243;243	Q12802;Q12802-2	AKP13_HUMAN;.	F	243;243;242;242	ENSP00000354718:S243F;ENSP00000378026:S243F	ENSP00000354718:S243F	S	+	2	0	AKAP13	83919431	0.970000	0.33590	1.000000	0.80357	0.993000	0.82548	0.804000	0.27098	2.854000	0.98071	0.655000	0.94253	TCT	AKAP13	-	NULL	ENSG00000170776		0.433	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0	60	0	C	NM_007200		86118427	1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	58.33	9	14	SNP	1.000	T	T	86118427	C	T	86118427	3	4	147	1	0	0	0	0	1	0	0	0	449	913	32	3	746	3	AKAP13	15	86118427	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	2618631	86118427	16412965	232	37587											
AGBL1	123624	genome.wustl.edu	37	chr15	86807974	86807974	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagaagaaccagctctgtGgtggacttcaagatgatggc	11	8	13	9	0	2	4	1	1	1	3	2	5	2	5	2	3	2	1	2	3	3	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:86807974G>T	ENST00000441037.2	+	10	1529	c.1434G>T	c.(1432-1434)gtG>gtT	p.V478V	AGBL1_ENST00000389298.3_Silent_p.V209V|AGBL1_ENST00000421325.2_Silent_p.V478V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	478					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						CCAGCTCTGTGGTGGACTTCA	0.483																																																	0													114	112	113					15																	86807974		1929	4134	6063	SO:0001819	synonymous_variant	0			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.1434G>T	15.37:g.86807974G>T			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.V478	ENST00000441037.2	37	c.1434	CCDS58398.1	15																																																																																			AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.483	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5		0	79	0	G	NM_152336		86807974	1			no_errors	ENST00000441037	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.964	T	T	86807974	G	T	86807974	2	4	147	1	0	0	0	0	0	0	0	1	375	1335	47	3		3	AGBL1	15	86807974	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	689547	86807974	15723418	233	37588											
C16orf91	283951	genome.wustl.edu	37	chr16	1476241	1476241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcctggtgtgcagcccagGggggcttcctgaaggaggtg	6	8	17	10	0	0	1	0	1	0	0	2	2	2	2	3	6	2	2	3	6	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:1476241G>A	ENST00000310355.1	-	3	381	c.382C>T	c.(382-384)Cct>Tct	p.P128S				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TGCAGCCCAGGGGGGCTTCCT	0.612																																																	0													101	103	102					16																	1476241		2199	4300	6499	SO:0001583	missense	0			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.382C>T	16.37:g.1476241G>A	ENSP00000311390:p.Pro128Ser		Q96RZ0	Missense_Mutation	SNP	prints_CCSMST1	p.P128S	ENST00000310355.1	37	c.382	CCDS32360.1	16	.	.	.	.	.	.	.	.	.	.	G	3.499	-0.102267	0.06967	.	.	ENSG00000174109	ENST00000310355	.	.	.	3.15	1.1	0.20463	.	.	.	.	.	T	0.36358	0.0964	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36212	-0.9757	5	0.87932	D	0	.	3.5931	0.07995	0.1381:0.0:0.5978:0.2641	.	.	.	.	S	128	.	ENSP00000311390:P128S	P	-	1	0	C16orf91	1416242	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.004000	0.12878	0.318000	0.23185	0.655000	0.94253	CCT	C16orf91	-	NULL	ENSG00000174109		0.612	C16orf91-201	KNOWN	basic|CCDS	protein_coding	C16orf91	HGNC	protein_coding		-	0	150	0	G	NM_001010878		1476241	-1	tier1	-	no_errors	ENST00000310355	ensembl	human	known	74_37	missense	50.00	36	36	SNP	0.001	A	A	1476241	G	A	1476241	3	1	147	1	0	0	0	0	1	0	0	0	1849	1232	43	3	698	3	C16orf91	16	1476241	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09		1476241	88878512	234	37589											
CLCN7	1186	genome.wustl.edu	37	chr16	1497474	1497474	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctgggacacgtggatGgactggatgggtgggaagcg	7	8	19	7	3	0	0	0	0	0	0	2	5	1	5	1	6	1	0	1	6	1	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:1497474G>T	ENST00000382745.4	-	23	2774	c.2169C>A	c.(2167-2169)tcC>tcA	p.S723S	CCDC154_ENST00000409671.1_5'Flank|CCDC154_ENST00000389176.3_5'Flank|CLCN7_ENST00000448525.1_Silent_p.S699S|CLCN7_ENST00000262318.8_Silent_p.S699S|LA16c-390E6.5_ENST00000566287.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	723					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)				ACACGTGGATGGACTGGATGG	0.657																																																	0													54	34	41					16																	1497474		2148	4239	6387	SO:0001819	synonymous_variant	0			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.2169C>A	16.37:g.1497474G>T			A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.S723	ENST00000382745.4	37	c.2169	CCDS32361.1	16																																																																																			CLCN7	-	NULL	ENSG00000103249		0.657	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	-	0	133	0	G	NM_001287		1497474	-1	tier1	-	no_errors	ENST00000382745	ensembl	human	known	74_37	silent	18.18	18	4	SNP	1.000	T	T	1497474	G	T	1497474	2	4	147	1	0	0	0	0	0	0	0	1	3475	1335	47	3		3	CLCN7	16	1497474	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	21233	1497474	88857279	235	37590											
CREBBP	1387	genome.wustl.edu	37	chr16	3778125	3778125	+	Frame_Shift_Del	DEL	G	G	-																															tcatggggttcggctggcctGgggacccaatctgctgcttc																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:3778125delG	ENST00000262367.5	-	31	7732	c.6923delC	c.(6922-6924)ccafs	p.P2308fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P2270fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2308					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)		CGGCTGGCCTGGGGACCCAAT	0.642			"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													68	72	71					16																	3778125		2197	4300	6497	SO:0001589	frameshift_variant	0			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.6923delC	16.37:g.3778125delG	ENSP00000262367:p.Pro2308fs		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P2308fs	ENST00000262367.5	37	c.6923	CCDS10509.1	16																																																																																			CREBBP	-	NULL	ENSG00000005339		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2		0	149	0	G	NM_004380		3778125	-1	tier1		no_errors	ENST00000262367	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.999	-	-	3778125	G	-	3778125	7	5	147	1	0	1	0	1	0	0	0	0	3868	1348	47	0	409	0	CREBBP	16	3778125	Frame_Shift_Del	DEL	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2280651	3778125	86576628	236	37591											
NOMO3	408050	genome.wustl.edu	37	chr16	16349609	16349609	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgggattctccgtcacCgggagggtcttgaacggacc	7	9	14	11	3	4	1	2	1	2	0	5	4	4	4	3	4	1	0	3	4	1	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:16349609C>A	ENST00000399336.4	+	10	1168	c.996C>A	c.(994-996)acC>acA	p.T332T	NOMO3_ENST00000263012.6_Silent_p.T332T|NOMO3_ENST00000538468.1_Silent_p.T165T	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	332						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCTCCGTCACCGGGAGGGTCT	0.552																																																	0													45	58	54					16																	16349609		2017	4292	6309	SO:0001819	synonymous_variant	0			AK125530	CCDS42123.1	16p13	2004-11-24				ENSG00000103226			25242	protein-coding gene	gene with protein product		609159				15257293	Standard	NM_001004067		Approved		uc002deq.3	P69849	OTTHUMG00000170525	ENST00000399336.4:c.996C>A	16.37:g.16349609C>A				Silent	SNP	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom	p.T332	ENST00000399336.4	37	c.996	CCDS42123.1	16																																																																																			NOMO3	-	superfamily_CarboxyPept-like_regulatory	ENSG00000103226		0.552	NOMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOMO3	HGNC	protein_coding	OTTHUMT00000409528.13	-	0	73	0	C	NM_001004067		16349609	1	tier1	-	no_errors	ENST00000399336	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.387	A	A	16349609	C	A	16349609	2	1	147	1	0	0	0	0	0	0	0	1	10572	639	23	2		2	NOMO3	16	16349609	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	12571484	16349609	74005144	237	37592											
ZNF646	9726	genome.wustl.edu	37	chr16	31090229	31090229	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	aggagtttgactctctgcctGccctccgcagccacttccag	6	10	9	16	1	1	1	0	1	1	0	4	2	3	2	5	1	3	2	5	1	0	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:31090229G>A	ENST00000394979.2	+	1	3007	c.2584G>A	c.(2584-2586)Gcc>Acc	p.A862T	ZNF646_ENST00000300850.5_Missense_Mutation_p.A862T			O15015	ZN646_HUMAN	zinc finger protein 646	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)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTCTCTGCCTGCCCTCCGCAG	0.632																																																	0													62	67	65					16																	31090229		2197	4300	6497	SO:0001583	missense	0			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.2584G>A	16.37:g.31090229G>A	ENSP00000378429:p.Ala862Thr		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A862T	ENST00000394979.2	37	c.2584		16	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691866	0.88735	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.77229	-1.08;-1.08	5.1	5.1	0.69264	.	.	.	.	.	T	0.74023	0.3662	N	0.12887	0.27	0.41004	D	0.984952	D	0.71674	0.998	D	0.65233	0.933	T	0.71955	-0.4436	9	0.21540	T	0.41	-13.5213	12.4066	0.55443	0.0:0.0:0.8316:0.1683	.	862	O15015-2	.	T	862	ENSP00000300850:A862T;ENSP00000378429:A862T	ENSP00000300850:A862T	A	+	1	0	ZNF646	30997730	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.890000	0.63178	2.380000	0.81148	0.563000	0.77884	GCC	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167395		0.632	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0	50	0	G	NM_014699		31090229	1	tier1	-	no_errors	ENST00000300850	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	A	A	31090229	G	A	31090229	3	1	147	1	0	0	0	0	1	0	0	0	18110	1319	46	3	2586	3	ZNF646	16	31090229	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	14740620	31090229	59264524	238	37593											
SLC5A2	6524	genome.wustl.edu	37	chr16	31500466	31500466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccttctggggactcatcgGgggcctgctgatgggcctgg	3	9	17	12	2	2	1	1	1	1	0	3	2	2	2	3	6	1	1	3	6	0	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:31500466G>T	ENST00000330498.3	+	12	1491	c.1472G>T	c.(1471-1473)gGg>gTg	p.G491V	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	491					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)	GGACTCATCGGGGGCCTGCTG	0.682																																																	0													55	55	55					16																	31500466		2197	4300	6497	SO:0001583	missense	0				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.1472G>T	16.37:g.31500466G>T	ENSP00000327943:p.Gly491Val		A2RRD2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.G491V	ENST00000330498.3	37	c.1472	CCDS10714.1	16	.	.	.	.	.	.	.	.	.	.	G	8.964	0.971393	0.18736	.	.	ENSG00000140675	ENST00000330498	D	0.86297	-2.1	4.64	4.64	0.57946	Sodium/solute symporter, conserved site (1);	0.113847	0.64402	N	0.000016	D	0.82939	0.5146	N	0.10945	0.07	0.80722	D	1	D	0.60160	0.987	D	0.63597	0.916	T	0.78237	-0.2282	10	0.02654	T	1	.	15.0492	0.71854	0.0:0.0:1.0:0.0	.	491	P31639	SC5A2_HUMAN	V	491	ENSP00000327943:G491V	ENSP00000327943:G491V	G	+	2	0	SLC5A2	31407967	0.002000	0.14202	0.993000	0.49108	0.876000	0.50452	1.168000	0.31859	2.403000	0.81681	0.561000	0.74099	GGG	SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000140675		0.682	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	-	0	114	0	G			31500466	1	tier1	-	no_errors	ENST00000330498	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.931	T	T	31500466	G	T	31500466	3	4	147	1	0	0	0	0	1	0	0	0	14710	1232	43	3	1518	3	SLC5A2	16	31500466	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	410237	31500466	58854287	239	37594											
PLEKHG4	25894	genome.wustl.edu	37	chr16	67319366	67319366	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gaagctgcgggacttccactGccacttcttcctgcgtgagc	6	10	11	14	2	1	1	0	1	1	0	3	3	3	2	3	1	5	1	3	1	1	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:67319366G>T	ENST00000360461.5	+	13	4904	c.2369G>T	c.(2368-2370)tGc>tTc	p.C790F	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.C790F|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.C790F|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.C709F	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	790	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GACTTCCACTGCCACTTCTTC	0.632																																																	0													74	79	77					16																	67319366		2198	4300	6498	SO:0001583	missense	0			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2369G>T	16.37:g.67319366G>T	ENSP00000353646:p.Cys790Phe		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.C790F	ENST00000360461.5	37	c.2369	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891189	0.17613	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	4.91	-1.76	0.08006	Dbl homology (DH) domain (5);	0.567638	0.13717	N	0.367715	T	0.43233	0.1238	L	0.46157	1.445	0.24908	N	0.992067	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23833	-1.0177	10	0.17832	T	0.49	.	1.8977	0.03261	0.2784:0.1272:0.4632:0.1311	.	709;790	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	F	790;790;790;709	ENSP00000353646:C790F;ENSP00000401118:C790F;ENSP00000368649:C790F;ENSP00000398030:C709F	ENSP00000353646:C790F	C	+	2	0	PLEKHG4	65876867	0.978000	0.34361	0.208000	0.23602	0.992000	0.81027	1.192000	0.32150	-0.650000	0.05423	0.561000	0.74099	TGC	PLEKHG4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000196155		0.632	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	-	0	86	0	G	NM_015432		67319366	1	tier1	-	no_errors	ENST00000360461	ensembl	human	known	74_37	missense	17.65	13	3	SNP	0.849	T	T	67319366	G	T	67319366	3	4	147	1	0	0	0	0	1	0	0	0	12110	1319	46	3	2419	3	PLEKHG4	16	67319366	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	35818900	67319366	23035387	240	37595											
PLCG2	5336	genome.wustl.edu	37	chr16	81962194	81962194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcccttagggtctctttGcagaggaatattggacctca	10	12	9	10	0	2	1	1	0	1	1	4	3	3	3	2	3	1	1	2	3	4	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:81962194G>T	ENST00000359376.3	+	24	2760	c.2546G>T	c.(2545-2547)tGc>tTc	p.C849F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	849					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						GGGTCTCTTTGCAGAGGAATA	0.443																																																	0													186	178	181					16																	81962194		1918	4139	6057	SO:0001583	missense	0				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.2546G>T	16.37:g.81962194G>T	ENSP00000352336:p.Cys849Phe		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.C849F	ENST00000359376.3	37	c.2546	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353637	0.61293	.	.	ENSG00000197943	ENST00000359376	T	0.65549	-0.16	5.43	5.43	0.79202	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Src homology-3 domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	L	0.50333	1.59	0.58432	D	0.999993	D	0.76494	0.999	D	0.85130	0.997	T	0.73421	-0.3988	10	0.39692	T	0.17	.	18.835	0.92159	0.0:0.0:1.0:0.0	.	849	P16885	PLCG2_HUMAN	F	849	ENSP00000352336:C849F	ENSP00000352336:C849F	C	+	2	0	PLCG2	80519695	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.552000	0.60747	2.531000	0.85337	0.591000	0.81541	TGC	PLCG2	-	superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SH3_domain,smart_Pleckstrin_homology,pirsf_PLC-gamma	ENSG00000197943		0.443	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	-	0	80	0	G			81962194	1	tier1	-	no_errors	ENST00000359376	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	81962194	G	T	81962194	3	4	147	1	0	0	0	0	1	0	0	0	12075	1319	46	3	2636	3	PLCG2	16	81962194	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	14642828	81962194	8392559	241	37596											
ZC3H18	124245	genome.wustl.edu	37	chr16	88643781	88643781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcccaagaccaggactcaGaggtgaatgagctgagccgg	13	5	13	10	1	1	5	1	3	0	2	2	6	2	6	3	3	2	1	3	3	3	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:88643781G>A	ENST00000301011.5	+	2	450	c.250G>A	c.(250-252)Gag>Aag	p.E84K	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E84K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	84						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)		CCAGGACTCAGAGGTGAATGA	0.632																																					Ovarian(121;375 2276 20373 38669)												0													35	38	37					16																	88643781		2197	4300	6497	SO:0001583	missense	0			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.250G>A	16.37:g.88643781G>A	ENSP00000301011:p.Glu84Lys		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.E84K	ENST00000301011.5	37	c.250	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952082	0.53293	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.34859	1.34;1.45	5.35	5.35	0.76521	.	0.291489	0.37483	N	0.002062	T	0.23289	0.0563	N	0.08118	0	0.49299	D	0.999772	P;P;P	0.42692	0.787;0.592;0.787	B;B;B	0.41510	0.359;0.254;0.359	T	0.06092	-1.0846	10	0.13470	T	0.59	-26.5341	19.0604	0.93090	0.0:0.0:1.0:0.0	.	84;84;84	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	K	84	ENSP00000301011:E84K;ENSP00000416951:E84K	ENSP00000289509:E84K	E	+	1	0	ZC3H18	87171282	1.000000	0.71417	0.608000	0.28969	0.007000	0.05969	6.778000	0.75043	2.497000	0.84241	0.561000	0.74099	GAG	ZC3H18	-	NULL	ENSG00000158545		0.632	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	-	0	65	0	G	NM_144604		88643781	1	tier1	-	no_errors	ENST00000301011	ensembl	human	known	74_37	missense	43.33	17	13	SNP	1.000	A	A	88643781	G	A	88643781	3	1	147	1	0	0	0	0	1	0	0	0	17616	943	33	3	252	3	ZC3H18	16	88643781	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	6681587	88643781	1710972	242	37597											
TCF25	22980	genome.wustl.edu	37	chr16	89965019	89965019	+	Frame_Shift_Del	DEL	C	C	-																															ttcctggagaagcgaggctgCccgcgcacggcgctggagta																								rs186514766	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:89965019delC	ENST00000263346.8	+	10	1133	c.1077delC	c.(1075-1077)tgcfs	p.C359fs	TCF25_ENST00000263347.7_Frame_Shift_Del_p.C124fs	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	359					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGCGAGGCTGCCCGCGCACGG	0.577																																																	0													76	88	84					16																	89965019		2198	4300	6498	SO:0001589	frameshift_variant	0			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1077delC	16.37:g.89965019delC	ENSP00000263346:p.Cys359fs		Q2MK75|Q9UPV3	Frame_Shift_Del	DEL	pfam_TCF25	p.P360fs	ENST00000263346.8	37	c.1077	CCDS10987.1	16																																																																																			TCF25	-	pfam_TCF25	ENSG00000141002		0.577	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2		0	27	0	C	NM_014972		89965019	1	tier1		no_errors	ENST00000263346	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	0.994	-	-	89965019	C	-	89965019	7	5	147	1	0	1	0	1	0	0	0	0	15740	747	26	0	1115	0	TCF25	16	89965019	Frame_Shift_Del	DEL	C	TCGA-R6-A6Y2-01B-11D-A33E-09	1321238	89965019	389734	243	37598											
PLSCR3	100529211	genome.wustl.edu	37	chr17	7296934	7296934	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacctgcaccaggaattCgaggccagaaggcacccctg	11	5	10	15	1	1	1	1	0	0	1	2	3	1	2	5	3	1	2	5	3	2	1	rs199962387		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:7296934C>A	ENST00000576362.1	-	2	386	c.229G>T	c.(229-231)Gaa>Taa	p.E77*	TMEM256-PLSCR3_ENST00000574401.1_Nonsense_Mutation_p.E77*|TMEM256-PLSCR3_ENST00000324822.11_Nonsense_Mutation_p.E77*|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000576201.1_Nonsense_Mutation_p.E77*|TMEM256-PLSCR3_ENST00000535512.1_Nonsense_Mutation_p.E77*					TMEM256-PLSCR3 readthrough (NMD candidate)									p.E77K(2)									ACCAGGAATTCGAGGCCAGAA	0.682																																																	2	Substitution - Missense(2)	large_intestine(2)											23	27	26					17																	7296934		2024	4160	6184	SO:0001587	stop_gained	0					17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.229G>T	17.37:g.7296934C>A	ENSP00000460800:p.Glu77*			Nonsense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.E77*	ENST00000576362.1	37	c.229		17	.	.	.	.	.	.	.	.	.	.	C	37	6.529984	0.97641	.	.	ENSG00000187838	ENST00000535512;ENST00000324822;ENST00000380658	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.4048	14.8178	0.70048	0.0:1.0:0.0:0.0	.	.	.	.	X	77	.	ENSP00000316021:E77X	E	-	1	0	PLSCR3	7237658	0.993000	0.37304	0.996000	0.52242	0.949000	0.60115	2.885000	0.48570	2.584000	0.87258	0.462000	0.41574	GAA	TMEM256-PLSCR3	-	pfam_Scramblase	ENSG00000187838		0.682	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	TMEM256-PLSCR3	HGNC	protein_coding	OTTHUMT00000440808.1		0	98	0	C			7296934	-1			no_errors	ENST00000324822	ensembl	human	known	74_37	nonsense	9.09	19	2	SNP	0.984	A	A	7296934	C	A	7296934	4	1	147	1	0	0	0	0	0	1	0	0	12150	893	31	2	682	2	PLSCR3	17	7296934	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09		7296934	73898276	244	37599											
TP53	7157	genome.wustl.edu	37	chr17	7577570	7577570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cccatgcaggaactgttacaCatgtagttgtagtggatggt	10	12	12	7	0	0	0	0	0	0	0	0	2	0	2	1	3	3	5	1	3	4	4	rs587782664		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:7577570C>A	ENST00000269305.4	-	7	900	c.711G>T	c.(709-711)atG>atT	p.M237I	TP53_ENST00000413465.2_Missense_Mutation_p.M237I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000420246.2_Missense_Mutation_p.M237I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACTGTTACACATGTAGTTGT	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(1)	GRCh37	CM011014	TP53	M							130	102	112					17																	7577570		2203	4300	6503	SO:0001583	missense	0	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.711G>T	17.37:g.7577570C>A	ENSP00000269305:p.Met237Ile		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.M237I	ENST00000269305.4	37	c.711	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282984	0.80692	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999982	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	64	0	C	NM_000546		7577570	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	61.11	14	22	SNP	1.000	A	A	7577570	C	A	7577570	3	1	147	1	0	0	0	0	1	0	0	0	16429	478	17	3	579	3	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	280636	7577570	73617640	245	37600											
MYO15A	51168	genome.wustl.edu	37	chr17	18022244	18022244	+	Frame_Shift_Del	DEL	A	A	-																															tcatgggcttccgcgaccgtAcacccaagatctccaagaag																										TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:18022244delA	ENST00000205890.5	+	2	468	c.130delA	c.(130-132)acafs	p.T44fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	44					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)					CCGCGACCGTACACCCAAGAT	0.642																																																	0													41	53	49					17																	18022244		1948	4114	6062	SO:0001589	frameshift_variant	0			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.130delA	17.37:g.18022244delA	ENSP00000205890:p.Thr44fs		B4DFC7	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.T44fs	ENST00000205890.5	37	c.130	CCDS42271.1	17																																																																																			MYO15A	-	NULL	ENSG00000091536		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1		0	90	0	A	NM_016239		18022244	1	tier1		no_errors	ENST00000205890	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	0.712	-	-	18022244	A	-	18022244	7	5	147	1	0	1	0	1	0	0	0	0	10101	391	14	0	132	0	MYO15A	17	18022244	Frame_Shift_Del	DEL	A	TCGA-R6-A6Y2-01B-11D-A33E-09	10444674	18022244	63172966	246	37601											
KIAA0100	9703	genome.wustl.edu	37	chr17	26961608	26961608	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaatccctcagggggaaaAgggctgcctggatcaagctc	10	8	12	11	0	3	0	2	0	1	0	5	2	4	2	2	4	2	2	2	4	4	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	KIAA0100_ENST00000544884.1_Silent_p.P856P|KIAA0100_ENST00000389003.3_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_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	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	ENST00000528896.2:c.2997T>C	17.37:g.26961608A>G			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.P999	ENST00000528896.2	37	c.2997	CCDS32595.1	17																																																																																			KIAA0100	-	NULL	ENSG00000007202		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	-	0	91	0	A	NM_014680		26961608	-1	tier1	-	no_errors	ENST00000528896	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.973	G	G	26961608	A	G	26961608	2	3	147	1	0	0	0	0	0	0	0	1	8181	59	3	4		4	KIAA0100	17	26961608	Silent	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	8939364	26961608	54233602	247	37602											
ERAL1	26284	genome.wustl.edu	37	chr17	27184985	27184985	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgacacacctggcattatcaGtcctggtaaacagaagaggt	13	9	10	9	0	1	3	1	1	0	2	2	3	2	3	2	3	1	2	2	3	4	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:27184985G>T	ENST00000254928.5	+	4	615	c.518G>T	c.(517-519)aGt>aTt	p.S173I	ERAL1_ENST00000578001.1_Intron|FAM222B_ENST00000583953.1_5'Flank	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	173	Era-type G.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GGCATTATCAGTCCTGGTAAA	0.483																																																	0													122	120	121					17																	27184985		2203	4300	6503	SO:0001583	missense	0			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.518G>T	17.37:g.27184985G>T	ENSP00000254928:p.Ser173Ile		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.S173I	ENST00000254928.5	37	c.518	CCDS11244.1	17	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817691	0.32145	.	.	ENSG00000132591	ENST00000254928;ENST00000412138	T	0.18960	2.18	5.97	3.97	0.46021	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.250233	0.52532	D	0.000078	T	0.29652	0.0740	L	0.55834	1.745	0.49483	D	0.999796	P	0.52316	0.952	P	0.53689	0.732	T	0.01935	-1.1244	10	0.40728	T	0.16	-7.0572	9.5167	0.39109	0.166:0.0:0.834:0.0	.	173	O75616	ERAL1_HUMAN	I	173;113	ENSP00000254928:S173I	ENSP00000254928:S173I	S	+	2	0	ERAL1	24209111	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	1.705000	0.37867	1.536000	0.49237	-0.140000	0.14226	AGT	ERAL1	-	pfam_GTP_binding_domain,pfam_MIRO-like,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	ENSG00000132591		0.483	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAL1	HGNC	protein_coding	OTTHUMT00000255937.2		0	99	0	G			27184985	1			no_errors	ENST00000254928	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	27184985	G	T	27184985	3	4	147	1	0	0	0	0	1	0	0	0	5218	1029	36	3	532	3	ERAL1	17	27184985	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	223377	27184985	54010225	248	37603											
MYO18A	399687	genome.wustl.edu	37	chr17	27417116	27417116	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctctggagggcttgtaGctagaggtgggggacaggaa	8	8	19	6	0	1	1	0	0	1	1	1	4	1	4	0	7	1	4	0	7	3	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:27417116G>T	ENST00000527372.1	-	37	5569	c.5389C>A	c.(5389-5391)Cta>Ata	p.L1797I	MYO18A_ENST00000533112.1_Splice_Site_p.L1760I|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_Splice_Site_p.L1797I|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000354329.4_Splice_Site_p.L1797I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1797					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)	p.L1797V(2)		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)			AGGGCTTGTAGCTAGAGGTGG	0.577																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												2	Substitution - Missense(2)	kidney(2)											30	31	31					17																	27417116		1994	4172	6166	SO:0001630	splice_region_variant	0			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.5389-1C>A	17.37:g.27417116G>T			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.L1797I	ENST00000527372.1	37	c.5389	CCDS45642.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.245331|2.245331	0.39697|0.39697	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105|ENST00000527859	T;D;T;T|.	0.83673|.	-0.99;-1.75;-0.99;-0.99|.	5.2|5.2	3.11|3.11	0.35812|0.35812	Myosin tail (1);|.	0.078542|.	0.51477|.	D|.	0.000100|.	T|T	0.55862|0.55862	0.1947|0.1947	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.18166|.	0.011;0.026;0.026;0.018|.	B;B;B;B|.	0.23419|.	0.046;0.017;0.017;0.039|.	T|T	0.51694|0.51694	-0.8673|-0.8673	10|5	0.18276|.	T|.	0.48|.	.|.	6.5337|6.5337	0.22341|0.22341	0.1521:0.0:0.6936:0.1544|0.1521:0.0:0.6936:0.1544	.|.	1400;1760;1797;1797|.	F8W6Y3;Q92614-3;Q92614-4;Q92614|.	.;.;.;MY18A_HUMAN|.	I|R	1797;1760;1760;1797;1797;693;693;1400;78|59	ENSP00000346291:L1797I;ENSP00000435932:L1760I;ENSP00000434228:L1797I;ENSP00000437073:L1797I|.	ENSP00000346291:L1797I|.	L|S	-|-	1|3	2|2	MYO18A|MYO18A	24441242|24441242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	2.323000|2.323000	0.43823|0.43823	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	CTA|AGC	MYO18A	-	pfam_Myosin_tail	ENSG00000196535		0.577	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1		0	74	0	G	NM_078471	Missense_Mutation	27417116	-1			no_errors	ENST00000354329	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	27417116	G	T	27417116	5	4	147	1	0	0	0	0	0	0	1	0	10103	985	34	3	799	3	MYO18A	17	27417116	Splice_Site	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	232131	27417116	53778094	249	37604											
BRCA1	672	genome.wustl.edu	37	chr17	41245977	41245977	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tttcaggagtcttttgaactGccaaatctgctttcttgata	9	17	7	8	0	4	2	1	2	3	0	4	3	4	3	1	1	3	1	1	1	3	6	rs397508886|rs80357333		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:41245977G>T	ENST00000357654.3	-	10	1689	c.1571C>A	c.(1570-1572)gCa>gAa	p.A524E	BRCA1_ENST00000346315.3_Missense_Mutation_p.A524E|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.A477E|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.A524E|BRCA1_ENST00000471181.2_Missense_Mutation_p.A524E|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.A228E	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	524					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)		CTTTTGAACTGCCAAATCTGC	0.378			"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													64	59	60					17																	41245977		2203	4300	6503	SO:0001583	missense	0	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.1571C>A	17.37:g.41245977G>T	ENSP00000350283:p.Ala524Glu		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.A524E	ENST00000357654.3	37	c.1571	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356327	0.24598	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	4.38	2.19	0.27852	.	0.810359	0.10967	N	0.614242	T	0.81024	0.4737	L	0.55990	1.75	0.09310	N	1	B;B;B;P;P;B	0.38167	0.028;0.028;0.349;0.621;0.563;0.088	B;B;B;B;B;B	0.34093	0.009;0.009;0.17;0.132;0.175;0.086	T	0.69533	-0.5120	10	0.36615	T	0.2	-0.1361	6.867	0.24098	0.0:0.144:0.5518:0.3042	.	524;483;524;524;524;524	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	E	524;524;524;524;228;524;477;524;498	ENSP00000350283:A524E;ENSP00000326002:A524E;ENSP00000246907:A524E;ENSP00000310938:A228E;ENSP00000418960:A524E;ENSP00000418775:A477E;ENSP00000419274:A524E;ENSP00000419988:A498E	ENSP00000310938:A228E	A	-	2	0	BRCA1	38499503	0.002000	0.14202	0.950000	0.38849	0.922000	0.55478	1.183000	0.32041	1.185000	0.42971	0.462000	0.41574	GCA	BRCA1	-	pirsf_BRCA1	ENSG00000012048		0.378	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	-	0	27	0	G	NM_007294		41245977	-1	tier1	-	no_errors	ENST00000471181	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.115	T	T	41245977	G	T	41245977	3	4	147	1	0	0	0	0	1	0	0	0	1502	1319	46	3	4146	3	BRCA1	17	41245977	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	13828861	41245977	39949233	250	37605											
PPP1R9B	84687	genome.wustl.edu	37	chr17	48226983	48226983	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcctccacctccaccggcTtaatcttgcgcacctcccgg	5	10	6	20	3	2	0	0	0	2	0	6	0	5	0	7	2	1	2	7	2	1	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:48226983T>A	ENST00000316878.6	-	3	892	c.890A>T	c.(889-891)aAg>aTg	p.K297M	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	297	Interacts with D(2) dopamine receptor. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CTCCACCGGCTTAATCTTGCG	0.736																																																	0													3	4	4					17																	48226983		1783	3877	5660	SO:0001583	missense	0			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9298	protein-coding gene	gene with protein product	"spinophilin", "Neurabin-2"	603325	"protein phosphatase 1, regulatory subunit 9B, spinophilin", "protein phosphatase 1, regulatory (inhibitor) subunit 9B"	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.890A>T	17.37:g.48226983T>A	ENSP00000475417:p.Lys297Met		Q8TCR9	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K297M	ENST00000316878.6	37	c.890		17																																																																																			PPP1R9B	-	NULL	ENSG00000108819		0.736	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	HGNC	protein_coding		-	0	38	0	T	NM_032595		48226983	-1	tier1	-	no_errors	ENST00000316878	ensembl	human	known	74_37	missense	100.00	0	2	SNP	1.000	A	A	48226983	T	A	48226983	3	1	147	1	0	0	0	0	1	0	0	0	12421	1609	56	5	1597	5	PPP1R9B	17	48226983	Missense_Mutation	SNP	T	TCGA-R6-A6Y2-01B-11D-A33E-09	6981006	48226983	32968227	251	37606											
TEX14	56155	genome.wustl.edu	37	chr17	56634377	56634377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatccaattccaatcagtCtgacaagtcactctgatcca	13	11	5	12	0	4	3	2	3	2	0	7	3	7	3	3	0	0	0	3	0	3	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:56634377C>A	ENST00000240361.8	-	33	4574	c.4489G>T	c.(4489-4491)Gac>Tac	p.D1497Y	TEX14_ENST00000349033.5_Missense_Mutation_p.D1451Y|TEX14_ENST00000584699.1_5'UTR|RP11-112H10.4_ENST00000578022.1_RNA|TEX14_ENST00000389934.3_Missense_Mutation_p.D1491Y|RP11-112H10.4_ENST00000580589.1_RNA			Q8IWB6	TEX14_HUMAN	testis expressed 14	1497					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)					TCCAATCAGTCTGACAAGTCA	0.418																																																	0													174	139	151					17																	56634377		2203	4300	6503	SO:0001583	missense	0			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.4489G>T	17.37:g.56634377C>A	ENSP00000240361:p.Asp1497Tyr		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.D1497Y	ENST00000240361.8	37	c.4489	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206672	0.79127	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;D	0.88818	-2.29;-2.29;-2.43	5.53	5.53	0.82687	.	0.353182	0.27966	N	0.017129	D	0.89577	0.6755	N	0.19112	0.55	0.36012	D	0.838162	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.68943	0.915;0.939;0.961	D	0.92199	0.5766	10	0.87932	D	0	-5.6551	14.8344	0.70172	0.0:1.0:0.0:0.0	.	1497;1451;1491	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Y	1497;1491;1451	ENSP00000240361:D1497Y;ENSP00000374584:D1491Y;ENSP00000268910:D1451Y	ENSP00000240361:D1497Y	D	-	1	0	TEX14	53989376	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.274000	0.51631	2.882000	0.98803	0.655000	0.94253	GAC	TEX14	-	NULL	ENSG00000121101		0.418	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	-	0	95	0	C			56634377	-1	tier1	-	no_errors	ENST00000240361	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	56634377	C	A	56634377	3	1	147	1	0	0	0	0	1	0	0	0	15825	913	32	3	8	3	TEX14	17	56634377	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	8407394	56634377	24560833	252	37607											
PITPNC1	26207	genome.wustl.edu	37	chr17	65628318	65628318	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctttattgatattgcctgCgatgaaattccagagcgcta	10	14	9	8	2	0	3	0	2	0	1	1	4	1	3	2	0	4	2	2	0	4	7			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:65628318C>A	ENST00000581322.1	+	6	426	c.426C>A	c.(424-426)tgC>tgA	p.C142*	PITPNC1_ENST00000299954.9_Nonsense_Mutation_p.C142*|PITPNC1_ENST00000580974.1_Nonsense_Mutation_p.C142*|PITPNC1_ENST00000335257.6_Nonsense_Mutation_p.C142*			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	142					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			ATATTGCCTGCGATGAAATTC	0.388																																																	0													111	106	108					17																	65628318		1910	4135	6045	SO:0001587	stop_gained	0			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.426C>A	17.37:g.65628318C>A	ENSP00000464006:p.Cys142*		A8K473|J3QR20|Q96I07	Nonsense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.C142*	ENST00000581322.1	37	c.426	CCDS58588.1	17	.	.	.	.	.	.	.	.	.	.	C	40	8.111226	0.98659	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	.	.	.	5.58	-5.07	0.02938	.	0.183799	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	0.9268	14.1656	0.65475	0.0:0.3245:0.0:0.6755	.	.	.	.	X	142	.	ENSP00000299954:C142X	C	+	3	2	PITPNC1	63058780	0.154000	0.22792	0.975000	0.42487	0.966000	0.64601	-0.615000	0.05597	-0.702000	0.05056	-0.339000	0.08088	TGC	PITPNC1	-	pfam_PI_transfer	ENSG00000154217		0.388	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNC1	HGNC	protein_coding	OTTHUMT00000447194.1		0	67	0	C	NM_012417		65628318	1			no_errors	ENST00000335257	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.877	A	A	65628318	C	A	65628318	4	1	147	1	0	0	0	0	0	1	0	0	11988	776	27	2	448	2	PITPNC1	17	65628318	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	8993941	65628318	15566892	253	37608											
MGAT5B	146664	genome.wustl.edu	37	chr17	74898751	74898751	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctgctcctgcacagcaaGggtgggtgccagggggcggg	6	6	19	10	1	1	0	0	0	1	0	2	0	2	0	2	5	4	3	2	5	1	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:74898751G>T	ENST00000569840.2	+	4	1018	c.444G>T	c.(442-444)aaG>aaT	p.K148N	MGAT5B_ENST00000428789.2_Splice_Site_p.K159N|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Splice_Site_p.K148N	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	148					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						TGCACAGCAAGGGTGGGTGCC	0.662																																																	0													17	15	15					17																	74898751		2200	4295	6495	SO:0001630	splice_region_variant	0			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.445+1G>T	17.37:g.74898751G>T			Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.K159N	ENST00000569840.2	37	c.477	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582014	0.65992	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.48836	0.8;0.8	5.28	4.31	0.51392	.	0.263474	0.36338	N	0.002660	T	0.34483	0.0899	L	0.31664	0.95	0.80722	D	1	P;P	0.50272	0.933;0.873	P;P	0.47346	0.544;0.544	T	0.06516	-1.0822	10	0.15499	T	0.54	-35.24	5.672	0.17728	0.2565:0.0:0.7435:0.0	.	159;148	Q3V5L5-2;Q3V5L5-5	.;.	N	148;148;159	ENSP00000301618:K148N;ENSP00000391227:K159N	ENSP00000301618:K148N	K	+	3	2	MGAT5B	72410346	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.525000	0.45598	2.453000	0.82957	0.655000	0.94253	AAG	MGAT5B	-	NULL	ENSG00000167889		0.662	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	-	0	103	0	G	NM_144677	Missense_Mutation	74898751	1	tier1	-	no_errors	ENST00000428789	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	74898751	G	T	74898751	5	4	147	1	0	0	0	0	0	0	1	0	9587	1014	35	3	559	3	MGAT5B	17	74898751	Splice_Site	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	9270433	74898751	6296459	254	37609											
ZNF24	7572	genome.wustl.edu	37	chr18	32917382	32917382	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacattcaagacatttGtaaggtttttctccagtgtg	9	16	7	9	0	2	1	1	0	1	1	4	1	3	1	2	1	0	2	2	1	2	6			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr18:32917382G>T	ENST00000261332.6	-	4	1100	c.921C>A	c.(919-921)taC>taA	p.Y307*	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Nonsense_Mutation_p.Y307*	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	307					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						CAAGACATTTGTAAGGTTTTT	0.448																																					Colon(42;769 913 8916 19469 46270)												0													110	111	111					18																	32917382		2203	4300	6503	SO:0001587	stop_gained	0			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.921C>A	18.37:g.32917382G>T	ENSP00000261332:p.Tyr307*		O14754|Q53YE4|Q6ICR5|Q8IZN4	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Y307*	ENST00000261332.6	37	c.921	CCDS11912.1	18	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394743	0.83011	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	.	.	.	5.14	3.08	0.35506	.	0.000000	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7147	0.40268	0.1545:0.0:0.8455:0.0	.	.	.	.	X	307	.	ENSP00000261332:Y307X	Y	-	3	2	ZNF24	31171380	0.004000	0.15560	1.000000	0.80357	0.999000	0.98932	-0.008000	0.12788	0.677000	0.31305	0.655000	0.94253	TAC	ZNF24	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172466		0.448	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF24	HGNC	protein_coding	OTTHUMT00000255769.1	-	0	66	0	G	NM_006965		32917382	-1	tier1	-	no_errors	ENST00000261332	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	T	T	32917382	G	T	32917382	4	4	147	1	0	0	0	0	0	1	0	0	17840	1372	48	3	189	3	ZNF24	18	32917382	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09		32917382	45159866	255	37610											
MBD1	4152	genome.wustl.edu	37	chr18	47801528	47801528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctctggggactgtgatgGgggtggtggaggcagtggct	4	9	23	5	0	1	1	0	1	1	0	1	3	1	3	0	9	0	3	0	9	0	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr18:47801528G>T	ENST00000591416.1	-	9	1311	c.880C>A	c.(880-882)Cca>Aca	p.P294T	MBD1_ENST00000585595.1_Missense_Mutation_p.P319T|MBD1_ENST00000339998.6_Missense_Mutation_p.P294T|MBD1_ENST00000398488.1_Missense_Mutation_p.P294T|MBD1_ENST00000269471.5_Missense_Mutation_p.P294T|MBD1_ENST00000353909.3_Missense_Mutation_p.P245T|MBD1_ENST00000347968.3_Missense_Mutation_p.P294T|MBD1_ENST00000457839.2_Missense_Mutation_p.P319T|MBD1_ENST00000269468.5_Missense_Mutation_p.P294T|MBD1_ENST00000591535.1_Missense_Mutation_p.P294T|MBD1_ENST00000587605.1_Missense_Mutation_p.P294T|MBD1_ENST00000349085.2_Missense_Mutation_p.P294T|MBD1_ENST00000436910.1_Missense_Mutation_p.P294T|MBD1_ENST00000382948.5_Missense_Mutation_p.P294T|MBD1_ENST00000398495.2_Missense_Mutation_p.P319T|MBD1_ENST00000424334.2_Missense_Mutation_p.P345T|MBD1_ENST00000588937.1_Missense_Mutation_p.P294T|MBD1_ENST00000590208.1_Missense_Mutation_p.P294T|MBD1_ENST00000398493.1_Missense_Mutation_p.P294T|MBD1_ENST00000585672.1_Missense_Mutation_p.P245T			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	294	Pro-rich.				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)			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						GACTGTGATGGGGGTGGTGGA	0.662																																																	0													36	45	42					18																	47801528		2203	4300	6503	SO:0001583	missense	0			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.880C>A	18.37:g.47801528G>T	ENSP00000467017:p.Pro294Thr		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.P345T	ENST00000591416.1	37	c.1033	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	g	2.917	-0.224156	0.06061	.	.	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	0.95447	-3.69;-3.69;-3.64;-3.69;-3.63;-3.71;-3.7;-3.71;-3.69;-3.71;-3.63;-3.64	4.68	-0.457	0.12186	.	0.484707	0.19111	N	0.122434	D	0.85762	0.5772	N	0.19112	0.55	0.09310	N	1	B;P;B;B;B;P;B;P;B;B;B;B	0.38504	0.19;0.469;0.277;0.017;0.218;0.634;0.011;0.493;0.017;0.321;0.017;0.321	B;B;B;B;B;B;B;B;B;B;B;B	0.30495	0.039;0.11;0.079;0.034;0.075;0.085;0.029;0.116;0.034;0.108;0.034;0.108	T	0.78927	-0.2011	10	0.30078	T	0.28	-0.0231	4.8294	0.13432	0.0963:0.5303:0.2399:0.1335	.	294;345;294;294;294;294;245;294;294;294;319;294	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	T	294;245;294;294;294;294;294;345;294;294;319;294;294	ENSP00000372407:P294T;ENSP00000269469:P245T;ENSP00000342531:P294T;ENSP00000269468:P294T;ENSP00000285102:P294T;ENSP00000409561:P294T;ENSP00000269471:P294T;ENSP00000408846:P345T;ENSP00000339546:P294T;ENSP00000405268:P319T;ENSP00000381506:P294T;ENSP00000381502:P294T	ENSP00000269468:P294T	P	-	1	0	MBD1	46055526	0.002000	0.14202	0.000000	0.03702	0.051000	0.14879	0.489000	0.22387	-0.008000	0.14320	-0.323000	0.08544	CCA	MBD1	-	NULL	ENSG00000141644		0.662	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3	-	0	198	0	G	NM_015846		47801528	-1	tier1	-	no_errors	ENST00000424334	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.000	T	T	47801528	G	T	47801528	3	4	147	1	0	0	0	0	1	0	0	0	9380	1232	43	3	1163	3	MBD1	18	47801528	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	14884146	47801528	30275720	256	37611											
DOT1L	84444	genome.wustl.edu	37	chr19	2211201	2211201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccccgcccgcgctgcaGaagcttctaggtgagcccgt	6	6	11	18	4	1	2	0	1	1	1	1	2	1	2	5	1	3	3	5	1	2	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:2211201G>T	ENST00000398665.3	+	15	1491	c.1455G>T	c.(1453-1455)caG>caT	p.Q485H	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	485					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)		CCGCGCTGCAGAAGCTTCTAG	0.682																																																	0													27	31	30					19																	2211201		2010	4171	6181	SO:0001583	missense	0			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.1455G>T	19.37:g.2211201G>T	ENSP00000381657:p.Gln485His		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.Q485H	ENST00000398665.3	37	c.1455	CCDS42460.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.42|14.42	2.529474|2.529474	0.44969|0.44969	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482|ENST00000440640	T|.	0.33654|.	1.4|.	4.5|4.5	0.851|0.851	0.18989|0.18989	.|.	0.120564|.	0.64402|.	N|.	0.000020|.	T|T	0.44008|0.44008	0.1273|0.1273	L|L	0.33485|0.33485	1.01|1.01	0.37659|0.37659	D|D	0.922697|0.922697	B|.	0.16802|.	0.019|.	B|.	0.19391|.	0.025|.	T|T	0.36359|0.36359	-0.9751|-0.9751	10|5	0.87932|.	D|.	0|.	-19.5275|-19.5275	8.9706|8.9706	0.35903|0.35903	0.0826:0.2925:0.6249:0.0|0.0826:0.2925:0.6249:0.0	.|.	485|.	Q8TEK3-2|.	.|.	H|I	485|272	ENSP00000381657:Q485H|.	ENSP00000221482:Q485H|.	Q|R	+|+	3|2	2|0	DOT1L|DOT1L	2162201|2162201	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	2.591000|2.591000	0.46163|0.46163	0.427000|0.427000	0.26145|0.26145	0.561000|0.561000	0.74099|0.74099	CAG|AGA	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.682	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	-	0	43	0	G	NM_032482		2211201	1	tier1	-	no_errors	ENST00000398665	ensembl	human	known	74_37	missense	100.00	0	2	SNP	1.000	T	T	2211201	G	T	2211201	3	4	147	1	0	0	0	0	1	0	0	0	4723	933	33	3	1513	3	DOT1L	19	2211201	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09		2211201	56917782	257	37612											
EEF2	1938	genome.wustl.edu	37	chr19	3982032	3982032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgacttgctgaacttgccGttggctgggtcaaagtacct	7	12	12	10	1	1	2	1	2	0	0	1	2	1	2	2	2	4	5	2	2	3	4	rs201754413		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:3982032G>A	ENST00000309311.6	-	6	898	c.810C>T	c.(808-810)aaC>aaT	p.N270N	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'Flank	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	270	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAACTTGCCGTTGGCTGGGT	0.587																																					Colon(165;1804 1908 4071 6587 18799)												0								G		0,4406		0,0,2203	99	90	93		810	-12.1	0	19		93	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	EEF2	NM_001961.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		270/859	3982032	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.810C>T	19.37:g.3982032G>A			B2RMP5|D6W618|Q58J86	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.N270	ENST00000309311.6	37	c.810	CCDS12117.1	19																																																																																			EEF2	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000167658		0.587	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	-	0	122	0	G	NM_001961		3982032	-1	tier1	rs201754413	no_errors	ENST00000309311	ensembl	human	known	74_37	silent	37.84	23	14	SNP	0.000	A	A	3982032	G	A	3982032	2	1	147	1	0	0	0	0	0	0	0	1	4943	1136	40	1		1	EEF2	19	3982032	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1770831	3982032	55146951	258	37613											
SH3GL1	6455	genome.wustl.edu	37	chr19	4363467	4363467	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagagctgactcacctgctCgatctgtggggacagtaggg	8	8	15	10	2	2	2	1	1	1	1	3	5	2	3	1	3	2	3	1	3	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:4363467C>A	ENST00000269886.3	-	7	806	c.628G>T	c.(628-630)Gag>Tag	p.E210*	SH3GL1_ENST00000417295.2_Nonsense_Mutation_p.E162*|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Nonsense_Mutation_p.E146*	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	210	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CTCACCTGCTCGATCTGTGGG	0.652			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													31	24	26					19																	4363467		2202	4300	6502	SO:0001587	stop_gained	0				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.628G>T	19.37:g.4363467C>A	ENSP00000269886:p.Glu210*		B4DRA1|E7EVZ4|M0QZV5|Q99668	Nonsense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.E210*	ENST00000269886.3	37	c.628	CCDS32874.1	19	.	.	.	.	.	.	.	.	.	.	.	37	6.370990	0.97511	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.7665	16.5275	0.84335	0.0:1.0:0.0:0.0	.	.	.	.	X	210;162	.	ENSP00000269886:E210X	E	-	1	0	SH3GL1	4314467	1.000000	0.71417	0.994000	0.49952	0.893000	0.52053	7.770000	0.85390	2.141000	0.66446	0.556000	0.70494	GAG	SH3GL1	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom	ENSG00000141985		0.652	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	-	0	146	0	C	NM_003025		4363467	-1	tier1	-	no_errors	ENST00000269886	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	1.000	A	A	4363467	C	A	4363467	4	1	147	1	0	0	0	0	0	1	0	0	14295	893	31	2	494	2	SH3GL1	19	4363467	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	381435	4363467	54765516	259	37614											
PLIN3	10226	genome.wustl.edu	37	chr19	4847712	4847712	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaacctcaccaggcttagGacctgcgacagctgcagcag	10	6	12	13	1	1	0	1	0	0	0	1	3	1	2	3	3	5	4	3	3	2	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:4847712G>T	ENST00000221957.4	-	6	1001	c.825C>A	c.(823-825)gtC>gtA	p.V275V	PLIN3_ENST00000585479.1_Silent_p.V275V|PLIN3_ENST00000592528.1_Silent_p.V263V	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	275			V -> A (in dbSNP:rs9973235). {ECO:0000269|PubMed:10393528, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9590177, ECO:0000269|PubMed:9874244, ECO:0000269|Ref.4, ECO:0000269|Ref.6}.		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)	CCAGGCTTAGGACCTGCGACA	0.652																																																	0													21	18	19					19																	4847712		2198	4299	6497	SO:0001819	synonymous_variant	0			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.825C>A	19.37:g.4847712G>T			A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.V275	ENST00000221957.4	37	c.825	CCDS12137.1	19																																																																																			PLIN3	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000105355		0.652	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLIN3	HGNC	protein_coding	OTTHUMT00000450436.1		0	262	0	G	NM_005817		4847712	-1			no_errors	ENST00000221957	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.088	T	T	4847712	G	T	4847712	2	4	147	1	0	0	0	0	0	0	0	1	12130	1161	41	3		3	PLIN3	19	4847712	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	484245	4847712	54281271	260	37615											
VAV1	7409	genome.wustl.edu	37	chr19	6829897	6829897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcacagcttccaggttcggGatgactcttcaggagaccga	9	9	12	11	2	2	2	1	1	1	1	4	5	3	3	2	3	2	3	2	3	0	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:6829897G>T	ENST00000602142.1	+	14	1448	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y	VAV1_ENST00000539284.1_Missense_Mutation_p.D359Y|VAV1_ENST00000596764.1_Missense_Mutation_p.D424Y|VAV1_ENST00000304076.2_Missense_Mutation_p.D456Y|VAV1_ENST00000599806.1_Missense_Mutation_p.D401Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	456	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CCAGGTTCGGGATGACTCTTC	0.557																																																	0													129	111	117					19																	6829897		2203	4300	6503	SO:0001583	missense	0				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.1366G>T	19.37:g.6829897G>T	ENSP00000472929:p.Asp456Tyr		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.D456Y	ENST00000602142.1	37	c.1366	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429409	0.62844	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.89681	-2.55;-2.55	4.92	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.989;0.999	D;D;D;D	0.91635	0.999;0.999;0.965;0.983	D	0.94390	0.7613	10	0.87932	D	0	.	15.9747	0.80054	0.0:0.0:1.0:0.0	.	359;456;401;456	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Y	456;359	ENSP00000302269:D456Y;ENSP00000443242:D359Y	ENSP00000302269:D456Y	D	+	1	0	VAV1	6780897	1.000000	0.71417	0.984000	0.44739	0.630000	0.37929	3.309000	0.51903	2.444000	0.82710	0.655000	0.94253	GAT	VAV1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000141968		0.557	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	-	0	67	0	G			6829897	1	tier1	-	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	19.35	25	6	SNP	0.998	T	T	6829897	G	T	6829897	3	4	147	1	0	0	0	0	1	0	0	0	17180	1174	41	3	1420	3	VAV1	19	6829897	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1982185	6829897	52299086	261	37616											
EMR1	2015	genome.wustl.edu	37	chr19	6913704	6913704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgtgcttaaacaaatatCcacgtggactaaattcacca	14	10	5	12	1	1	0	1	0	0	0	2	1	2	1	3	1	2	1	3	1	6	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:6913704C>A	ENST00000312053.4	+	11	1200	c.1163C>A	c.(1162-1164)tCc>tAc	p.S388Y	EMR1_ENST00000250572.8_Missense_Mutation_p.S388Y|EMR1_ENST00000381404.4_Missense_Mutation_p.S336Y|EMR1_ENST00000450315.3_Missense_Mutation_p.S211Y|EMR1_ENST00000381407.5_Missense_Mutation_p.S247Y	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	388	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AAACAAATATCCACGTGGACT	0.438																																																	0													93	88	90					19																	6913704		2203	4300	6503	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1163C>A	19.37:g.6913704C>A	ENSP00000311545:p.Ser388Tyr		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.S388Y	ENST00000312053.4	37	c.1163	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143632	0.37825	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.78924	-1.17;-1.2;-1.22;-0.01;0.3	4.98	0.193	0.15139	.	.	.	.	.	T	0.80025	0.4548	M	0.67953	2.075	0.09310	N	1	P;P;D;P;P	0.59767	0.9;0.766;0.986;0.766;0.766	P;B;P;B;B	0.57152	0.635;0.325;0.814;0.401;0.24	T	0.67768	-0.5585	9	0.72032	D	0.01	.	4.0985	0.10002	0.3234:0.4927:0.0:0.1839	.	211;247;388;336;388	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	Y	388;388;336;388;247;211	ENSP00000311545:S388Y;ENSP00000370811:S336Y;ENSP00000250572:S388Y;ENSP00000370814:S247Y;ENSP00000405974:S211Y	ENSP00000250572:S388Y	S	+	2	0	EMR1	6864704	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.629000	0.24538	-0.114000	0.11936	-0.145000	0.13849	TCC	EMR1	-	NULL	ENSG00000174837		0.438	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	-	0	92	0	C			6913704	1	tier1	-	no_errors	ENST00000312053	ensembl	human	known	74_37	missense	25.00	51	17	SNP	0.000	A	A	6913704	C	A	6913704	3	1	147	1	0	0	0	0	1	0	0	0	5120	855	30	3	1205	3	EMR1	19	6913704	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	83807	6913704	52215279	262	37617											
PNPLA6	10908	genome.wustl.edu	37	chr19	7622101	7622101	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgacgctgtcgggctacCtgcccccgctgtgcgacccc	4	7	12	18	4	0	1	0	1	0	0	1	2	0	1	5	1	3	4	5	1	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:7622101C>G	ENST00000221249.6	+	30	3645	c.3214C>G	c.(3214-3216)Ctg>Gtg	p.L1072V	PNPLA6_ENST00000414982.3_Missense_Mutation_p.L1120V|PNPLA6_ENST00000600737.1_Missense_Mutation_p.L1110V|PNPLA6_ENST00000545201.2_Missense_Mutation_p.L1045V|PNPLA6_ENST00000450331.3_Missense_Mutation_p.L1072V	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1111	Patatin.				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						GTCGGGCTACCTGCCCCCGCT	0.667																																																	0													61	54	56					19																	7622101		2203	4299	6502	SO:0001583	missense	0			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.3214C>G	19.37:g.7622101C>G	ENSP00000221249:p.Leu1072Val		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L1120V	ENST00000221249.6	37	c.3358	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	c	14.43	2.533731	0.45073	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	4.09	4.09	0.47781	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.101398	0.42548	D	0.000690	T	0.81128	0.4758	M	0.77313	2.365	0.54753	D	0.999989	P;P;P;P	0.44986	0.78;0.739;0.739;0.847	B;B;B;P	0.49561	0.431;0.305;0.305;0.615	T	0.83162	-0.0098	10	0.72032	D	0.01	.	9.1514	0.36965	0.2173:0.7827:0.0:0.0	.	1111;1045;1110;1072	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	V	1072;1045;1120;1072	ENSP00000221249:L1072V;ENSP00000443323:L1045V;ENSP00000407509:L1120V;ENSP00000394348:L1072V	ENSP00000221249:L1072V	L	+	1	2	PNPLA6	7528101	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	3.053000	0.49901	2.123000	0.65237	0.484000	0.47621	CTG	PNPLA6	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000032444		0.667	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1		0	108	0	C	NM_006702		7622101	1			no_errors	ENST00000414982	ensembl	human	known	74_37	missense	25.00	6	2	SNP	1.000	G	G	7622101	C	G	7622101	3	3	147	1	0	0	0	0	1	0	0	0	12208	680	24	5	3468	5	PNPLA6	19	7622101	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	708397	7622101	51506882	263	37618											
LRRC8E	80131	genome.wustl.edu	37	chr19	7960626	7960626	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctttggctgcaccctccaGgtgaggccctcccctggcaa	5	9	11	16	0	1	1	0	1	1	0	3	1	3	1	5	4	1	3	5	4	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:7960626G>T	ENST00000306708.6	+	2	239	c.138G>T	c.(136-138)caG>caT	p.Q46H		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	46					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCACCCTCCAGGTGAGGCCCT	0.622																																																	0													85	67	73					19																	7960626		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.138+1G>T	19.37:g.7960626G>T			B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q46H	ENST00000306708.6	37	c.138	CCDS12189.1	19	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677123	0.88445	.	.	ENSG00000171017	ENST00000306708	T	0.36157	1.27	4.49	4.49	0.54785	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63839	-0.6546	10	0.87932	D	0	.	14.7321	0.69388	0.0:0.0:1.0:0.0	.	46	Q6NSJ5	LRC8E_HUMAN	H	46	ENSP00000306524:Q46H	ENSP00000306524:Q46H	Q	+	3	2	LRRC8E	7866626	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.732000	0.84908	2.327000	0.79052	0.491000	0.48974	CAG	LRRC8E	-	pfam_LRR_protein-8_N	ENSG00000171017		0.622	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	HGNC	protein_coding	OTTHUMT00000461354.1	-	0	136	0	G	NM_025061	Missense_Mutation	7960626	1	tier1	-	no_errors	ENST00000306708	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T	T	7960626	G	T	7960626	5	4	147	1	0	0	0	0	0	0	1	0	9060	1014	35	3	140	3	LRRC8E	19	7960626	Splice_Site	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	338525	7960626	51168357	264	37619											
TIMM44	10469	genome.wustl.edu	37	chr19	7998370	7998370	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaagacaccttcactcacGgttaaacaccacgttgttct	11	11	5	14	2	3	1	2	0	1	1	4	1	4	1	3	1	1	3	3	1	3	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:7998370G>T	ENST00000270538.3	-	7	1037	c.769C>A	c.(769-771)Cgg>Agg	p.R257R	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	257					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CTTCACTCACGGTTAAACACC	0.597																																																	0													308	262	277					19																	7998370		2203	4300	6503	SO:0001630	splice_region_variant	0			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.769+1C>A	19.37:g.7998370G>T			A8K0R9|D6W664|Q8N193	Silent	SNP	pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44	p.R257	ENST00000270538.3	37	c.769	CCDS12192.1	19																																																																																			TIMM44	-	pirsf_Tim44,tigrfam_Tim44	ENSG00000104980		0.597	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	HGNC	protein_coding	OTTHUMT00000461596.3	-	0	119	0	G		Silent	7998370	-1	tier1	-	no_errors	ENST00000270538	ensembl	human	known	74_37	silent	11.43	31	4	SNP	1.000	T	T	7998370	G	T	7998370	5	4	147	1	0	0	0	0	0	0	1	0	15959	1130	39	2	617	2	TIMM44	19	7998370	Splice_Site	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	37744	7998370	51130613	265	37620											
ANGPTL4	51129	genome.wustl.edu	37	chr19	8430944	8430944	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gcgaattcagcatctgcaaaGccaggtaaccctaggatcaa	14	7	9	11	1	3	0	2	0	1	0	3	2	3	1	2	2	4	3	2	2	5	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:8430944G>A	ENST00000301455.2	+	2	596	c.425G>A	c.(424-426)aGc>aAc	p.S142N	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.S142N	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	142					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						CATCTGCAAAGCCAGGTAACC	0.582																																																	0													75	74	74					19																	8430944		2203	4300	6503	SO:0001583	missense	0			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.425G>A	19.37:g.8430944G>A	ENSP00000301455:p.Ser142Asn		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.S142N	ENST00000301455.2	37	c.425	CCDS12200.1	19	.	.	.	.	.	.	.	.	.	.	G	0.331	-0.956071	0.02267	.	.	ENSG00000167772	ENST00000301455;ENST00000393962	T;T	0.57273	0.59;0.41	4.62	2.41	0.29592	.	8.991540	0.00166	N	0.000000	T	0.39410	0.1077	L	0.29908	0.895	0.80722	D	1	B;B	0.27951	0.195;0.102	B;B	0.22152	0.038;0.028	T	0.18555	-1.0333	10	0.13470	T	0.59	.	6.0955	0.20019	0.1053:0.1917:0.703:0.0	.	142;142	A8MY84;Q9BY76	.;ANGL4_HUMAN	N	142	ENSP00000301455:S142N;ENSP00000377534:S142N	ENSP00000301455:S142N	S	+	2	0	ANGPTL4	8336944	0.994000	0.37717	1.000000	0.80357	0.425000	0.31504	0.522000	0.22909	0.350000	0.24002	0.655000	0.94253	AGC	ANGPTL4	-	NULL	ENSG00000167772		0.582	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL4	HGNC	protein_coding	OTTHUMT00000460322.1	-	0	141	0	G	NM_139314		8430944	1	tier1	-	no_errors	ENST00000301455	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	A	A	8430944	G	A	8430944	3	1	147	1	0	0	0	0	1	0	0	0	616	971	34	3	431	3	ANGPTL4	19	8430944	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	432574	8430944	50698039	266	37621											
MUC16	94025	genome.wustl.edu	37	chr19	9080541	9080541	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	catctttatggtggtcactaGcgttccatcagttgctgaaa	9	14	9	9	1	3	1	2	1	1	0	4	1	4	1	1	2	2	3	1	2	3	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:9080541G>T	ENST00000397910.4	-	2	9693	c.9490C>A	c.(9490-9492)Cta>Ata	p.L3164I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3165	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						GTGGTCACTAGCGTTCCATCA	0.458																																																	0													137	130	132					19																	9080541		1944	4153	6097	SO:0001583	missense	0			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.9490C>A	19.37:g.9080541G>T	ENSP00000381008:p.Leu3164Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L3164I	ENST00000397910.4	37	c.9490	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.705	-0.500448	0.04291	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	1.12	-0.134	0.13481	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	P	0.39094	0.659	B	0.31751	0.135	T	0.45848	-0.9233	8	0.87932	D	0	.	4.8645	0.13602	0.0:0.3944:0.6056:0.0	.	3164	B5ME49	.	I	3164	ENSP00000381008:L3164I	ENSP00000381008:L3164I	L	-	1	2	MUC16	8941541	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	0.293000	0.19029	-0.002000	0.14469	0.313000	0.20887	CTA	MUC16	-	NULL	ENSG00000181143		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	124	0	G	NM_024690		9080541	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.000	T	T	9080541	G	T	9080541	3	4	147	1	0	0	0	0	1	0	0	0	10011	962	34	3	34365	3	MUC16	19	9080541	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	649597	9080541	50048442	267	37622											
ZNF699	374879	genome.wustl.edu	37	chr19	9406193	9406193	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttcacatgccttcgaaaGtaggcaggacaaacaaaggc	14	8	10	9	1	1	0	1	0	0	0	2	2	1	1	1	3	2	3	1	3	4	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:9406193G>C	ENST00000591998.1	-	6	2115	c.1887C>G	c.(1885-1887)taC>taG	p.Y629*	ZNF699_ENST00000308650.3_Nonsense_Mutation_p.Y629*|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y629Y(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCTTCGAAAGTAGGCAGGAC	0.428																																																	1	Substitution - coding silent(1)	lung(1)											102	108	106					19																	9406193		2198	4300	6498	SO:0001587	stop_gained	0			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1887C>G	19.37:g.9406193G>C	ENSP00000467723:p.Tyr629*		Q8N9A1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y629*	ENST00000591998.1	37	c.1887	CCDS42495.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.828121	0.96996	.	.	ENSG00000196110	ENST00000308650	.	.	.	3.59	-0.917	0.10485	.	0.000000	0.32175	N	0.006463	.	.	.	.	.	.	0.29164	N	0.877542	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	7.5119	0.27579	0.4121:0.0:0.5879:0.0	.	.	.	.	X	629	.	ENSP00000311596:Y629X	Y	-	3	2	ZNF699	9267193	0.000000	0.05858	0.000000	0.03702	0.985000	0.73830	-0.242000	0.08928	-0.062000	0.13088	-0.266000	0.10368	TAC	ZNF699	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196110		0.428	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF699	HGNC	protein_coding	OTTHUMT00000449010.1	-	0	55	0	G	NM_198535		9406193	-1	tier1	-	no_errors	ENST00000308650	ensembl	human	known	74_37	nonsense	44.23	29	23	SNP	0.000	C	C	9406193	G	C	9406193	4	2	147	1	0	0	0	0	0	1	0	0	18149	1024	36	5	45	5	ZNF699	19	9406193	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	325652	9406193	49722790	268	37623											
KRI1	84971	genome.wustl.edu	37	chr19	10664803	10664803	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccctcctccgcttctgggGggctggcttcttgtggggtg	0	12	17	12	1	2	0	0	0	2	0	4	0	4	0	3	7	0	3	3	7	0	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:10664803G>T	ENST00000309469.4	+	0	1949				KRI1_ENST00000361821.5_Missense_Mutation_p.P648T|KRI1_ENST00000312962.6_Missense_Mutation_p.P652T|MIR1238_ENST00000408483.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						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)			CGCTTCTGGGGGGCTGGCTTC	0.642																																																	0													56	63	61					19																	10664803		2201	4300	6501	SO:0001628	intergenic_variant	0			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		19.37:g.10664803G>T			Q969K0	Missense_Mutation	SNP	pfam_KRR1-interact_protein_1	p.P652T	ENST00000309469.4	37	c.1954	CCDS12241.1	19	.	.	.	.	.	.	.	.	.	.	G	9.351	1.065491	0.20067	.	.	ENSG00000129347	ENST00000312962;ENST00000361821	T;T	0.08193	3.3;3.12	4.18	-0.914	0.10497	.	0.949068	0.08798	N	0.892172	T	0.08088	0.0202	L	0.56769	1.78	0.09310	N	1	B;B	0.28713	0.1;0.22	B;B	0.28139	0.054;0.086	T	0.40478	-0.9561	10	0.29301	T	0.29	-7.2031	3.4791	0.07595	0.0816:0.2616:0.3894:0.2674	.	652;648	Q8N9T8;D3YTE0	KRI1_HUMAN;.	T	652;648	ENSP00000320917:P652T;ENSP00000355366:P648T	ENSP00000320917:P652T	P	-	1	0	KRI1	10525803	0.519000	0.26242	0.004000	0.12327	0.010000	0.07245	1.650000	0.37292	-0.111000	0.12001	-0.181000	0.13052	CCC	KRI1	-	NULL	ENSG00000129347		0.642	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000452022.1		0	150	0	G	NM_032885		10664803	-1			no_errors	ENST00000312962	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.022	T	T	10664803	G	T	10664803	1	4	147	0	1	0	0	0	0	0	0	0	8471	1232	43	3		3	KRI1	19	10664803	IGR	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1258610	10664803	48464180	269	37624											
KANK2	25959	genome.wustl.edu	37	chr19	11287353	11287353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgccggctggtcttggccGctgccgtccctgcaggcctg	1	9	14	17	3	1	0	0	0	1	0	2	0	2	0	6	4	3	3	6	4	0	1	rs111476305	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:11287353G>A	ENST00000586659.1	-	7	1975	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	KANK2_ENST00000355150.5_Missense_Mutation_p.A554V|KANK2_ENST00000589359.1_Missense_Mutation_p.A562V|KANK2_ENST00000589894.1_Missense_Mutation_p.A554V|KANK2_ENST00000432929.2_Missense_Mutation_p.A562V			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	554					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)		p.A554V(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGTCTTGGCCGCTGCCGTCCC	0.627													G|||	14	0.00279553	0.003	0	5008	,	,		16971	0.0099		0	False		,,,				2504	0																1	Substitution - Missense(1)	urinary_tract(1)						G	VAL/ALA,VAL/ALA	7,4399	15.5+/-35.6	0,7,2196	92	90	90		1661,1685	-11.2	0	19	dbSNP_132	90	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	KANK2	NM_001136191.2,NM_015493.6	64,64	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	benign,benign	554/852,562/860	11287353	8,12998	2203	4300	6503	SO:0001583	missense	0			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.1661C>T	19.37:g.11287353G>A	ENSP00000465650:p.Ala554Val		B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A562V	ENST00000586659.1	37	c.1685	CCDS12255.1	19	11	0.005036630036630037	2	0.0040650406504065045	0	0.0	9	0.015734265734265736	0	0.0	G	7.825	0.718600	0.15372	0.001589	1.16E-4	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.40476	1.03;1.04	5.61	-11.2	0.00127	.	1.575930	0.03836	N	0.269907	T	0.07999	0.0200	N	0.02802	-0.49	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.0;0.002	T	0.35574	-0.9783	10	0.30078	T	0.28	-1.1215	8.7739	0.34749	0.0879:0.3232:0.4516:0.1373	.	554;562	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	V	562;554	ENSP00000395650:A562V;ENSP00000347276:A554V	ENSP00000347276:A554V	A	-	2	0	KANK2	11148353	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.211000	0.00141	-4.973000	0.00025	-1.327000	0.01280	GCG	KANK2	-	NULL	ENSG00000197256		0.627	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2		0	51	0	G	NM_015493		11287353	-1			no_errors	ENST00000432929	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.000	A	A	11287353	G	A	11287353	3	1	147	1	0	0	0	0	1	0	0	0	8004	1087	38	1	922	1	KANK2	19	11287353	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	622550	11287353	47841630	270	37625											
CALR3	125972	genome.wustl.edu	37	chr19	16594793	16594793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgattctgccggggacGtttccttcttgagtgatgtt	4	16	11	10	3	2	2	0	2	2	0	4	4	3	3	3	2	1	2	3	2	0	6			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:16594793G>A	ENST00000269881.3	-	5	688	c.626C>T	c.(625-627)aCg>aTg	p.T209M	CALR3_ENST00000602234.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	209	4 X approximate repeats.|P-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						TGCCGGGGACGTTTCCTTCTT	0.418																																																	0													126	110	116					19																	16594793		2203	4300	6503	SO:0001583	missense	0			AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"cancer/testis antigen 93", "calsperin"	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.626C>T	19.37:g.16594793G>A	ENSP00000269881:p.Thr209Met		D9N574|Q96LN3	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex	p.T209M	ENST00000269881.3	37	c.626	CCDS12344.1	19	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491443	0.26774	.	.	ENSG00000141979	ENST00000269881	T	0.22743	1.94	4.55	1.08	0.20341	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);	0.599767	0.17090	N	0.187434	T	0.12092	0.0294	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.11329	0.006	T	0.21211	-1.0252	10	0.87932	D	0	-13.8487	6.5619	0.22491	0.0:0.0819:0.3013:0.6167	.	209	Q96L12	CALR3_HUMAN	M	209	ENSP00000269881:T209M	ENSP00000269881:T209M	T	-	2	0	CALR3	16455793	1.000000	0.71417	0.000000	0.03702	0.017000	0.09413	2.607000	0.46300	-0.062000	0.13088	-0.377000	0.06932	ACG	CALR3	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin	ENSG00000269058		0.418	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR3	HGNC	protein_coding	OTTHUMT00000461089.1	-	0	121	0	G	NM_145046		16594793	-1	tier1	-	no_errors	ENST00000269881	ensembl	human	known	74_37	missense	12.00	66	9	SNP	0.249	A	A	16594793	G	A	16594793	3	1	147	1	0	0	0	0	1	0	0	0	2600	1145	40	1	548	1	CALR3	19	16594793	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	5307440	16594793	42534190	271	37626											
FCHO1	23149	genome.wustl.edu	37	chr19	17883316	17883316	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcacatgaaggcactgctGggctcatatgctcactcggt	9	9	12	11	1	2	1	2	1	0	0	3	1	2	1	0	4	2	5	0	4	2	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:17883316G>T	ENST00000596536.1	+	10	928	c.645G>T	c.(643-645)ctG>ctT	p.L215L	FCHO1_ENST00000252771.7_Silent_p.L215L|FCHO1_ENST00000389133.4_Silent_p.L215L|FCHO1_ENST00000597512.1_Silent_p.L222L|FCHO1_ENST00000594202.1_Silent_p.L215L|FCHO1_ENST00000595033.1_Silent_p.L165L|FCHO1_ENST00000600676.1_Silent_p.L215L|FCHO1_ENST00000596951.1_Silent_p.L215L|FCHO1_ENST00000539407.1_Silent_p.L215L	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	215	Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGGCACTGCTGGGCTCATATG	0.602																																																	0													139	110	120					19																	17883316		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.645G>T	19.37:g.17883316G>T			A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom	p.L215	ENST00000596536.1	37	c.645	CCDS32955.1	19																																																																																			FCHO1	-	NULL	ENSG00000130475		0.602	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	HGNC	protein_coding	OTTHUMT00000466946.2	-	0	97	0	G	NM_015122		17883316	1	tier1	-	no_errors	ENST00000252771	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.997	T	T	17883316	G	T	17883316	2	4	147	1	0	0	0	0	0	0	0	1	5809	1335	47	3		3	FCHO1	19	17883316	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1288523	17883316	41245667	272	37627											
ZNF99	7652	genome.wustl.edu	37	chr19	22940313	22940313	+	Missense_Mutation	SNP	T	T	G	0	1	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	ttttctaagggttgaggaatTgttaaaagctttgccacatt	11	16	9	5	0	1	1	0	1	1	0	1	2	1	2	1	2	2	3	1	2	4	8	rs541691706		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:22940313T>G	ENST00000596209.1	-	4	2488	c.2398A>C	c.(2398-2400)Aat>Cat	p.N800H	ZNF99_ENST00000397104.3_Missense_Mutation_p.N709H|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTGAGGAATTGTTAAAAGCT	0.348													t|||	1	0.000199681	8e-04	0	5008	,	,		19243	0		0	False		,,,				2504	0																0													32	35	34					19																	22940313		2043	4206	6249	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2398A>C	19.37:g.22940313T>G	ENSP00000472969:p.Asn800His		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N709H	ENST00000596209.1	37	c.2125	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	t	0.017	-1.508819	0.00984	.	.	ENSG00000213973	ENST00000397104	T	0.19250	2.16	1.26	-2.52	0.06346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	N	0.04297	-0.235	0.09310	N	1	B	0.12630	0.006	B	0.20184	0.028	T	0.35599	-0.9782	9	0.13108	T	0.6	.	0.1001	0.00047	0.2359:0.1894:0.2374:0.3373	.	709	A8MXY4	ZNF99_HUMAN	H	709	ENSP00000380293:N709H	ENSP00000380293:N709H	N	-	1	0	ZNF99	22732153	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.769000	0.00099	-1.181000	0.02730	-0.939000	0.02691	AAT	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1		0	27	0	T	XM_065124		22940313	-1			no_errors	ENST00000397104	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.000	G	G	22940313	T	G	22940313	3	3	147	1	0	0	0	0	1	0	0	0	18252	1812	63	4	999	4	ZNF99	19	22940313	Missense_Mutation	SNP	T	TCGA-R6-A6Y2-01B-11D-A33E-09	5056997	22940313	36188670	273	37628											
POP4	10775	genome.wustl.edu	37	chr19	30101445	30101445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagtacttcacccgcCacaagcgcaaggagaagaag	13	5	11	12	2	1	2	1	0	0	2	2	4	2	3	3	2	2	2	3	2	5	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:30101445C>T	ENST00000585603.1	+	3	2492	c.190C>T	c.(190-192)Cac>Tac	p.H64Y	POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Intron|POP4_ENST00000221770.3_Intron			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	64					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CTTCACCCGCCACAAGCGCAA	0.622											OREG0025393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(89;1165 1449 14085 34436 43672)												0													40	45	44					19																	30101445		2203	4300	6503	SO:0001583	missense	0			BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.190C>T	19.37:g.30101445C>T	ENSP00000465213:p.His64Tyr	814	Q5XKL7|Q6FHW9|Q9UQQ3	Missense_Mutation	SNP	pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit	p.H64Y	ENST00000585603.1	37	c.190	CCDS12416.1	19	.	.	.	.	.	.	.	.	.	.	C	9.419	1.082509	0.20309	.	.	ENSG00000105171	ENST00000221770	.	.	.	5.55	1.77	0.24775	.	0.436768	0.27016	N	0.021355	T	0.24851	0.0603	N	0.22421	0.69	0.22811	N	0.99871	B	0.17465	0.022	B	0.09377	0.004	T	0.17561	-1.0365	9	0.59425	D	0.04	-5.4399	6.4214	0.21746	0.448:0.4623:0.0:0.0897	.	64	O95707	RPP29_HUMAN	Y	64	.	ENSP00000221770:H64Y	H	+	1	0	POP4	34793285	0.018000	0.18449	0.271000	0.24616	0.165000	0.22458	2.809000	0.47971	0.797000	0.33971	0.585000	0.79938	CAC	POP4	-	pirsf_RNase_P/MRP_p29-subunit	ENSG00000105171		0.622	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP4	HGNC	protein_coding	OTTHUMT00000458710.1	-	0	161	0	C	NM_006627		30101445	1	tier1	-	no_errors	ENST00000585603	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.031	T	T	30101445	C	T	30101445	3	4	147	1	0	0	0	0	1	0	0	0	12291	594	21	3	200	3	POP4	19	30101445	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	7161132	30101445	29027538	274	37629											
LSM14A	26065	genome.wustl.edu	37	chr19	34685532	34685532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgttctttgcctcaagacCcagctattgttcaggtaact	9	14	8	10	0	3	1	2	0	1	1	3	1	3	1	2	1	3	4	2	1	3	6			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:34685532C>A	ENST00000433627.5	+	2	346	c.271C>A	c.(271-273)Cca>Aca	p.P91T	LSM14A_ENST00000544216.3_Missense_Mutation_p.P91T|LSM14A_ENST00000540746.2_Missense_Mutation_p.P91T	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	91					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GCCTCAAGACCCAGCTATTGT	0.413																																																	0													187	166	173					19																	34685532		2203	4300	6503	SO:0001583	missense	0			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.271C>A	19.37:g.34685532C>A	ENSP00000413964:p.Pro91Thr		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.P91T	ENST00000433627.5	37	c.271	CCDS46040.1	19	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643480	0.87859	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.61392	0.11;0.11;0.29	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.82811	0.5118	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.81914	0.992;0.87;0.995	D	0.87158	0.2213	10	0.72032	D	0.01	-10.8197	19.1769	0.93605	0.0:1.0:0.0:0.0	.	91;91;91	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	T	91	ENSP00000446271:P91T;ENSP00000413964:P91T;ENSP00000446451:P91T	ENSP00000314768:P91T	P	+	1	0	LSM14A	39377372	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.764000	0.85297	2.609000	0.88269	0.655000	0.94253	CCA	LSM14A	-	NULL	ENSG00000257103		0.413	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LSM14A	HGNC	protein_coding	OTTHUMT00000451576.3	-	0	75	0	C	NM_015578		34685532	1	tier1	-	no_errors	ENST00000433627	ensembl	human	known	74_37	missense	24.18	68	22	SNP	1.000	A	A	34685532	C	A	34685532	3	1	147	1	0	0	0	0	1	0	0	0	9089	623	22	3	277	3	LSM14A	19	34685532	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	4584087	34685532	24443451	275	37630											
FXYD3	5349	genome.wustl.edu	37	chr19	35612193	35612193	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccccacaaccccacataCtgcttggtgccaagggttcc	8	8	7	18	0	0	0	0	0	0	0	2	0	2	0	7	2	4	2	7	2	3	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:35612193C>T	ENST00000344013.6	+	5	293				FXYD3_ENST00000603524.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000603449.1_Silent_p.Y47Y|FXYD3_ENST00000605677.1_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000406242.3_Intron|FXYD3_ENST00000605552.1_Silent_p.Y47Y|FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000435734.2_Intron|FXYD3_ENST00000454903.2_Silent_p.Y47Y|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000346446.5_Intron|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000535103.1_Intron			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-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)			ACCCCACATACTGCTTGGTGC	0.507																																																	0													46	50	49					19																	35612193		2202	4298	6500	SO:0001627	intron_variant	0			X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"FXYD domain-containing ion transport regulator 3"	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.97+44C>T	19.37:g.35612193C>T			A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Silent	SNP	NULL	p.Y47	ENST00000344013.6	37	c.141	CCDS12442.1	19																																																																																			FXYD3	-	NULL	ENSG00000089356		0.507	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FXYD3	HGNC	protein_coding	OTTHUMT00000468985.1	-	0	179	0	C	NM_021910		35612193	1	tier1	-	no_errors	ENST00000454903	ensembl	human	known	74_37	silent	40.91	65	45	SNP	0.000	T	T	35612193	C	T	35612193	1	4	147	0	1	0	0	0	0	0	0	0	6143	576	20	3		3	FXYD3	19	35612193	Intron	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	926661	35612193	23516790	276	37631											
ZNF829	374899	genome.wustl.edu	37	chr19	37382431	37382431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatggcgaatgaggtcaGagcgactaccaaaagccttt	12	8	10	11	2	2	2	2	1	0	1	2	4	2	2	3	2	3	0	3	2	4	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:37382431G>T	ENST00000391711.3	-	6	1626	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	ZNF829_ENST00000520965.1_Missense_Mutation_p.S502Y|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGAGGTCAGAGCGACTACC	0.378																																																	0													63	66	65					19																	37382431		2188	4291	6479	SO:0001583	missense	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1262C>A	19.37:g.37382431G>T	ENSP00000429266:p.Ser421Tyr		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S502Y	ENST00000391711.3	37	c.1505	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580062	0.46006	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.37058	1.22	3.28	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33702	0.0872	L	0.42686	1.345	0.23585	N	0.997351	P	0.37573	0.6	B	0.37267	0.245	T	0.29305	-1.0016	9	0.59425	D	0.04	.	14.4683	0.67499	0.0:0.0:1.0:0.0	.	421	Q3KNS6	ZN829_HUMAN	Y	421	ENSP00000429266:S421Y	ENSP00000429266:S421Y	S	-	2	0	ZNF829	42074271	0.000000	0.05858	0.998000	0.56505	0.986000	0.74619	0.758000	0.26447	2.129000	0.65627	0.557000	0.71058	TCT	ZNF829	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185869		0.378	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	-	0	61	0	G	NM_001037232		37382431	-1	tier1	-	no_errors	ENST00000520965	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.552	T	T	37382431	G	T	37382431	3	4	147	1	0	0	0	0	1	0	0	0	18230	942	33	3	40	3	ZNF829	19	37382431	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1770238	37382431	21746552	277	37632											
ZNF574	64763	genome.wustl.edu	37	chr19	42583430	42583430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgctcccagctcttccaGctgccggcggatttcctgga	5	10	12	14	2	1	0	0	0	1	0	4	3	4	2	4	3	4	3	4	3	0	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:42583430G>A	ENST00000600245.1	+	2	1327	c.672G>A	c.(670-672)caG>caA	p.Q224Q	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.Q224Q|ZNF574_ENST00000222339.7_Silent_p.Q314Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				AGCTCTTCCAGCTGCCGGCGG	0.622																																																	0													66	69	68					19																	42583430		2203	4300	6503	SO:0001819	synonymous_variant	0			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.672G>A	19.37:g.42583430G>A			Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q314	ENST00000600245.1	37	c.942	CCDS12596.1	19																																																																																			ZNF574	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105732		0.622	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	HGNC	protein_coding	OTTHUMT00000463458.1	-	0	115	0	G	NM_022752		42583430	1	tier1	-	no_errors	ENST00000222339	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	A	A	42583430	G	A	42583430	2	1	147	1	0	0	0	0	0	0	0	1	18054	962	34	3		3	ZNF574	19	42583430	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	5200999	42583430	16545553	278	37633											
KLK4	9622	genome.wustl.edu	37	chr19	51411835	51411835	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacacccgtgagctcacCgttcgccagcagaccccagc	10	4	8	19	3	1	2	1	1	0	1	2	2	1	2	5	0	3	3	5	0	0	1	rs267605602		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:51411835C>T	ENST00000324041.1	-	3	474	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	KLK4_ENST00000431178.2_Splice_Site_p.G110R|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	159	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> D (in dbSNP:rs34626614).		amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGAGCTCACCGTTCGCCAGC	0.637																																																	0													92	76	81					19																	51411835		2203	4300	6503	SO:0001630	splice_region_variant	0			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.475+1G>A	19.37:g.51411835C>T			Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G159S	ENST00000324041.1	37	c.475	CCDS12809.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.33|10.33	1.319411|1.319411	0.23994|0.23994	.|.	.|.	ENSG00000167749|ENSG00000167749	ENST00000431178|ENST00000324041	D|D	0.93763|0.88354	-3.28|-2.37	3.43|3.43	1.25|1.25	0.21368|0.21368	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000|0.000000	0.39083|0.39083	N|N	0.001469|0.001469	T|T	0.75627|0.75627	0.3875|0.3875	L|L	0.28504|0.28504	0.86|0.86	0.18873|0.18873	N|N	0.999988|0.999988	.|P;P	.|0.48589	.|0.912;0.875	.|B;B	.|0.36567	.|0.228;0.107	T|T	0.67929|0.67929	-0.5543|-0.5543	7|9	.|.	.|.	.|.	.|.	4.7095|4.7095	0.12865|0.12865	0.0:0.6502:0.225:0.1248|0.0:0.6502:0.225:0.1248	.|.	.|110;159	.|Q96JD7;Q9Y5K2	.|.;KLK4_HUMAN	R|S	110|159	ENSP00000399448:G110R|ENSP00000326159:G159S	.|.	G|G	-|-	1|1	0|0	KLK4|KLK4	56103647|56103647	0.062000|0.062000	0.20869|0.20869	0.202000|0.202000	0.23494|0.23494	0.005000|0.005000	0.04900|0.04900	0.795000|0.795000	0.26972|0.26972	0.439000|0.439000	0.26476|0.26476	-0.305000|-0.305000	0.09177|0.09177	GGG|GGC	KLK4	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167749		0.637	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK4	HGNC	protein_coding	OTTHUMT00000464449.1	-	0	71	0	C	NM_004917	Missense_Mutation	51411835	-1	tier1	-	no_errors	ENST00000324041	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.225	T	T	51411835	C	T	51411835	5	4	147	1	0	0	0	0	0	0	1	0	8433	666	23	1	301	1	KLK4	19	51411835	Splice_Site	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	8828405	51411835	7717148	279	37634											
DYNLRB1	83658	genome.wustl.edu	37	chr20	33122442	33122442	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctcaggcattcccatCaagagcaccatggacaaccc	11	6	6	18	0	2	1	2	0	0	1	4	2	4	2	5	2	2	2	5	2	2	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:33122442C>A	ENST00000357156.2	+	3	140	c.90C>A	c.(88-90)atC>atA	p.I30I	DYNLRB1_ENST00000417166.2_Silent_p.I30I|DYNLRB1_ENST00000374846.3_Silent_p.I82I|DYNLRB1_ENST00000480759.1_3'UTR	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	30					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						GCATTCCCATCAAGAGCACCA	0.597																																																	0													115	88	97					20																	33122442		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"Cytoplasmic dyneins"	15468	protein-coding gene	gene with protein product	"roadblock domain containing 1"	607167	"dynein, cytoplasmic, light polypeptide 2A"	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.90C>A	20.37:g.33122442C>A			B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Silent	SNP	pfam_Dynein_light-rel,smart_Dynein_light-rel	p.I30	ENST00000357156.2	37	c.90	CCDS13235.1	20																																																																																			DYNLRB1	-	pfam_Dynein_light-rel,smart_Dynein_light-rel	ENSG00000125971		0.597	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNLRB1	HGNC	protein_coding	OTTHUMT00000078791.1	-	0	56	0	C	NM_014183		33122442	1	tier1	-	no_errors	ENST00000417166	ensembl	human	known	74_37	silent	7.41	49	4	SNP	1.000	A	A	33122442	C	A	33122442	2	1	147	1	0	0	0	0	0	0	0	1	4864	816	29	3		3	DYNLRB1	20	33122442	Silent	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09		33122442	29903078	280	37635											
ACSS2	55902	genome.wustl.edu	37	chr20	33501246	33501246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgcctatgatcccagagCttgtggtggccatgctggca	8	10	12	11	0	0	2	0	1	0	1	1	2	1	2	3	3	3	3	3	3	1	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:33501246C>T	ENST00000360596.2	+	4	728	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.L173F|ACSS2_ENST00000336325.4_Missense_Mutation_p.L123F	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	173					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)	p.L173I(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GATCCCAGAGCTTGTGGTGGC	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											117	113	114					20																	33501246		2203	4300	6503	SO:0001583	missense	0			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.517C>T	20.37:g.33501246C>T	ENSP00000353804:p.Leu173Phe		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.L173F	ENST00000360596.2	37	c.517	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131816	0.77662	.	.	ENSG00000131069	ENST00000488172;ENST00000336325;ENST00000360596;ENST00000374693;ENST00000473172;ENST00000253382	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.09	5.09	0.68999	AMP-dependent synthetase/ligase (1);	0.066974	0.64402	D	0.000008	T	0.69851	0.3157	M	0.90198	3.095	0.80722	D	1	D;D	0.60575	0.988;0.98	D;D	0.69654	0.965;0.936	T	0.76219	-0.3039	10	0.66056	D	0.02	-6.9042	15.8075	0.78527	0.0:0.8643:0.1357:0.0	.	173;173	Q5QPH3;Q9NR19	.;ACSA_HUMAN	F	123;123;173;173;186;173	ENSP00000417783:L123F;ENSP00000337190:L123F;ENSP00000353804:L173F;ENSP00000419925:L186F;ENSP00000253382:L173F	ENSP00000253382:L173F	L	+	1	0	ACSS2	32964907	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.885000	0.69736	2.638000	0.89438	0.655000	0.94253	CTT	ACSS2	-	pfam_AMP-dep_Synth/Lig	ENSG00000131069		0.567	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3		0	37	0	C	NM_018677		33501246	1			no_errors	ENST00000253382	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T	T	33501246	C	T	33501246	3	4	147	1	0	0	0	0	1	0	0	0	189	797	28	3	531	3	ACSS2	20	33501246	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	378804	33501246	29524274	281	37636											
CTNNBL1	56259	genome.wustl.edu	37	chr20	36488710	36488710	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagatcctaaacatgcgaGgaagctccatcaaaattgtc	15	8	7	11	1	1	1	1	0	0	1	4	3	3	2	3	1	3	1	3	1	5	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:36488710G>T	ENST00000361383.6	+	15	1684	c.1567G>T	c.(1567-1569)Gga>Tga	p.G523*	CTNNBL1_ENST00000373473.1_Nonsense_Mutation_p.G336*|CTNNBL1_ENST00000373469.1_Nonsense_Mutation_p.G271*|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000405275.2_Nonsense_Mutation_p.G496*	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	523					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)				AAACATGCGAGGAAGCTCCAT	0.443																																					Ovarian(184;582 2038 3273 4106 42608)												0													196	171	179					20																	36488710		2203	4300	6503	SO:0001587	stop_gained	0			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.1567G>T	20.37:g.36488710G>T	ENSP00000355050:p.Gly523*		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Nonsense_Mutation	SNP	pfam_CTNNBL1_N,superfamily_ARM-type_fold	p.G496*	ENST00000361383.6	37	c.1486	CCDS13298.1	20	.	.	.	.	.	.	.	.	.	.	G	41	8.607431	0.98884	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-18.1222	18.0467	0.89335	0.0:0.0:1.0:0.0	.	.	.	.	X	523;496;336;271	.	ENSP00000355050:G523X	G	+	1	0	CTNNBL1	35922124	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.375000	0.97178	2.488000	0.83962	0.655000	0.94253	GGA	CTNNBL1	-	NULL	ENSG00000132792		0.443	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1		0	87	0	G	NM_030877		36488710	1			no_errors	ENST00000405275	ensembl	human	known	74_37	nonsense	5.00	76	4	SNP	1.000	T	T	36488710	G	T	36488710	4	4	147	1	0	0	0	0	0	1	0	0	4027	1001	35	3	1625	3	CTNNBL1	20	36488710	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	2987464	36488710	26536810	282	37637											
PREX1	57580	genome.wustl.edu	37	chr20	47251238	47251238	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatagttctcgtccagctGcttaaaggagaaggtgacat	12	10	10	9	1	1	2	0	1	1	1	3	3	2	2	1	2	2	3	1	2	4	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:47251238G>A	ENST00000371941.3	-	33	4265	c.4243C>T	c.(4243-4245)Cag>Tag	p.Q1415*	PREX1_ENST00000396220.1_Nonsense_Mutation_p.Q1415*	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1415					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)			TCGTCCAGCTGCTTAAAGGAG	0.582																																																	0													148	106	120					20																	47251238		2203	4300	6503	SO:0001587	stop_gained	0			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.4243C>T	20.37:g.47251238G>A	ENSP00000361009:p.Gln1415*		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q1415*	ENST00000371941.3	37	c.4243	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	44	10.764849	0.99463	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	.	.	.	4.9	4.9	0.64082	.	0.000000	0.52532	U	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.104	0.89515	0.0:0.0:1.0:0.0	.	.	.	.	X	1415	.	ENSP00000361009:Q1415X	Q	-	1	0	PREX1	46684645	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.011000	0.64011	2.245000	0.73994	0.561000	0.74099	CAG	PREX1	-	NULL	ENSG00000124126		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	-	0	59	0	G	NM_020820		47251238	-1	tier1	-	no_errors	ENST00000371941	ensembl	human	known	74_37	nonsense	26.00	37	13	SNP	1.000	A	A	47251238	G	A	47251238	4	1	147	1	0	0	0	0	0	1	0	0	12518	1328	46	3	768	3	PREX1	20	47251238	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	10762528	47251238	15774282	283	37638											
EDN3	1908	genome.wustl.edu	37	chr20	57896131	57896131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccggggcaagaggtctgCggggccacttccagggaatc	7	7	15	12	2	1	1	0	0	1	1	4	2	3	2	3	6	1	1	3	6	2	2	rs536097197		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:57896131C>T	ENST00000337938.2	+	3	811	c.425C>T	c.(424-426)gCg>gTg	p.A142V	EDN3_ENST00000371025.3_Missense_Mutation_p.A142V|EDN3_ENST00000311585.7_Missense_Mutation_p.A142V|EDN3_ENST00000395654.3_Missense_Mutation_p.A142V|EDN3_ENST00000371028.2_Missense_Mutation_p.A142V	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	142					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)					AAGAGGTCTGCGGGGCCACTT	0.582													C|||	1	0.000199681	0	0	5008	,	,		19264	0		0	False		,,,				2504	0.001																0													100	89	93					20																	57896131		2203	4300	6503	SO:0001583	missense	0			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.425C>T	20.37:g.57896131C>T	ENSP00000337128:p.Ala142Val		E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.A142V	ENST00000337938.2	37	c.425	CCDS13477.1	20	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397968	0.25205	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2	4.87	-1.32	0.09201	.	1.390750	0.05277	N	0.518649	T	0.81307	0.4795	L	0.42245	1.32	0.09310	N	1	B;B;B;B	0.28378	0.169;0.209;0.105;0.152	B;B;B;B	0.26864	0.074;0.018;0.033;0.008	T	0.62756	-0.6787	10	0.23891	T	0.37	-2.4125	9.5053	0.39042	0.0:0.775:0.0:0.225	.	142;142;142;142	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	V	142	ENSP00000337128:A142V;ENSP00000311854:A142V;ENSP00000360067:A142V;ENSP00000360064:A142V;ENSP00000379015:A142V	ENSP00000311854:A142V	A	+	2	0	EDN3	57329526	0.000000	0.05858	0.000000	0.03702	0.352000	0.29268	-0.295000	0.08298	-0.433000	0.07286	-0.367000	0.07326	GCG	EDN3	-	NULL	ENSG00000124205		0.582	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDN3	HGNC	protein_coding	OTTHUMT00000079919.2	-	0	116	0	C	NM_000114		57896131	1	tier1	-	no_errors	ENST00000337938	ensembl	human	known	74_37	missense	60.71	22	34	SNP	0.000	T	T	57896131	C	T	57896131	3	4	147	1	0	0	0	0	1	0	0	0	4932	768	27	1	435	1	EDN3	20	57896131	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	10644893	57896131	5129389	284	37639											
CDH4	1002	genome.wustl.edu	37	chr20	60318683	60318683	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaacagcatggacttcaaAgttggggcagatgggacagt	13	7	13	8	0	1	1	1	0	0	1	1	3	1	3	1	4	2	3	1	4	2	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:60318683A>C	ENST00000360469.5	+	3	322	c.234A>C	c.(232-234)aaA>aaC	p.K78N	RP11-429E11.2_ENST00000442888.1_RNA|RP11-429E11.2_ENST00000447909.1_RNA|CDH4_ENST00000543233.1_Missense_Mutation_p.K4N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	78					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGGACTTCAAAGTTGGGGCAG	0.597																																																	0													60	41	48					20																	60318683		2202	4300	6502	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.234A>C	20.37:g.60318683A>C	ENSP00000353656:p.Lys78Asn		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.K78N	ENST00000360469.5	37	c.234	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	A	10.70	1.425238	0.25639	.	.	ENSG00000179242	ENST00000360469;ENST00000543233	T;T	0.50001	0.76;0.76	5.11	1.5	0.22942	Cadherin prodomain-like (1);Cadherin-like (1);	0.399593	0.29466	N	0.012077	T	0.37544	0.1007	M	0.68317	2.08	0.41325	D	0.987208	P	0.37781	0.608	B	0.33846	0.171	T	0.08597	-1.0714	9	.	.	.	.	5.0262	0.14385	0.5568:0.1494:0.2937:0.0	.	78	P55283	CADH4_HUMAN	N	78;4	ENSP00000353656:K78N;ENSP00000443301:K4N	.	K	+	3	2	CDH4	59752078	0.996000	0.38824	0.592000	0.28758	0.114000	0.19823	0.235000	0.17948	-0.018000	0.14079	0.402000	0.26972	AAA	CDH4	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like	ENSG00000179242		0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0	59	0	A	NM_001794		60318683	1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.998	C	C	60318683	A	C	60318683	3	2	147	1	0	0	0	0	1	0	0	0	3119	69	3	4	244	4	CDH4	20	60318683	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	2422552	60318683	2706837	285	37640											
KCNQ2	3785	genome.wustl.edu	37	chr20	62070961	62070961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacttactgcaggcagcGcgaagaaggagacaccgatg	12	5	14	10	3	0	2	0	0	0	2	0	6	0	3	1	3	3	2	1	3	3	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:62070961G>A	ENST00000359125.2	-	6	1091	c.917C>T	c.(916-918)gCg>gTg	p.A306V	KCNQ2_ENST00000359689.1_Missense_Mutation_p.A306V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A306V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.A306V|KCNQ2_ENST00000344462.4_Missense_Mutation_p.A306V|KCNQ2_ENST00000344425.5_Missense_Mutation_p.A306V|KCNQ2_ENST00000354587.3_Missense_Mutation_p.A306V|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A306V	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	306			A -> T (in BFNS1; 20%-40% reduction of wt heteromeric current. Ratio of 1:1:2). {ECO:0000269|PubMed:14534157, ECO:0000269|PubMed:9425895}.		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)	TGCAGGCAGCGCGAAGAAGGA	0.632																																																	0													160	122	135					20																	62070961		2203	4300	6503	SO:0001583	missense	0			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.917C>T	20.37:g.62070961G>A	ENSP00000352035:p.Ala306Val		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.A306V	ENST00000359125.2	37	c.917	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544581	0.65198	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.98862	-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19	4.01	4.01	0.46588	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99155	0.9708	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.996;0.993;0.993;0.995	D;D;P;P;P;P	0.77557	0.99;0.946;0.754;0.754;0.81;0.841	D	0.99323	1.0907	10	0.87932	D	0	-19.7988	16.4798	0.84155	0.0:0.0:1.0:0.0	.	306;306;306;306;306;306	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	V	306	ENSP00000349789:A306V;ENSP00000352035:A306V;ENSP00000359246:A306V;ENSP00000346601:A306V;ENSP00000352718:A306V;ENSP00000399612:A306V;ENSP00000353668:A306V;ENSP00000339611:A306V;ENSP00000359244:A306V;ENSP00000359242:A306V;ENSP00000359241:A306V;ENSP00000345523:A306V	ENSP00000345523:A306V	A	-	2	0	KCNQ2	61541405	1.000000	0.71417	0.995000	0.50966	0.011000	0.07611	9.547000	0.98100	1.908000	0.55244	0.561000	0.74099	GCG	KCNQ2	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000075043		0.632	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	-	0	253	0	G	NM_172109		62070961	-1	tier1	-	no_errors	ENST00000354587	ensembl	human	known	74_37	missense	48.48	67	64	SNP	1.000	A	A	62070961	G	A	62070961	3	1	147	1	0	0	0	0	1	0	0	0	8110	1087	38	1	1813	1	KCNQ2	20	62070961	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1752278	62070961	954559	286	37641											
C20orf135	140701	genome.wustl.edu	37	chr20	62494063	62494063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	tatgcacgctaccgcgtggaCgaggactggtgcctggcgct	6	8	15	12	5	0	0	0	0	0	0	0	3	0	2	2	4	3	3	2	4	2	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:62494063C>A	ENST00000369916.3	+	1	1498	c.1170C>A	c.(1168-1170)gaC>gaA	p.D390E	C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|TPD52L2_ENST00000351424.4_5'Flank|TPD52L2_ENST00000346249.4_5'Flank|TPD52L2_ENST00000217121.5_5'Flank|TPD52L2_ENST00000352482.4_5'Flank|TPD52L2_ENST00000348257.5_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	390							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						ACCGCGTGGACGAGGACTGGT	0.721																																																	0													9	9	9					20																	62494063		2016	3830	5846	SO:0001583	missense	0				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"Abhydrolase domain containing"	16128	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 135"	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.1170C>A	20.37:g.62494063C>A	ENSP00000358932:p.Asp390Glu			Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.D390E	ENST00000369916.3	37	c.1170	CCDS13539.1	20	.	.	.	.	.	.	.	.	.	.	C	3.026	-0.200746	0.06219	.	.	ENSG00000183260	ENST00000369916	T	0.46451	0.87	5.04	-6.22	0.02058	.	0.122187	0.52532	D	0.000066	T	0.25082	0.0609	L	0.31294	0.92	0.36097	D	0.843857	B	0.18166	0.026	B	0.25614	0.062	T	0.17930	-1.0353	10	0.15499	T	0.54	-10.5834	14.3602	0.66766	0.0:0.6847:0.0:0.3153	.	390	Q9H3Z7	ABHGB_HUMAN	E	390	ENSP00000358932:D390E	ENSP00000358932:D390E	D	+	3	2	ABHD16B	61964507	0.380000	0.25131	0.115000	0.21578	0.161000	0.22273	-0.727000	0.04931	-1.213000	0.02617	-0.218000	0.12543	GAC	ABHD16B	-	NULL	ENSG00000183260		0.721	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16B	HGNC	protein_coding	OTTHUMT00000080254.1	-	0	17	0	C			62494063	1	tier1	-	no_errors	ENST00000369916	ensembl	human	known	74_37	missense	100.00	0	2	SNP	0.271	A	A	62494063	C	A	62494063	3	1	147	1	0	0	0	0	1	0	0	0	2095	535	19	2	1172	2	C20orf135	20	62494063	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	423102	62494063	531457	287	37642											
GAB4	128954	genome.wustl.edu	37	chr22	17450854	17450854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattatccgcctcagagcCtgtgaggctgcctctggtgt	5	12	11	13	1	3	2	2	1	1	1	4	2	4	2	4	2	2	1	4	2	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:17450854C>T	ENST00000400588.1	-	4	1023	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	306										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)				GCCTCAGAGCCTGTGAGGCTG	0.592																																																	0													78	86	83					22																	17450854		2174	4290	6464	SO:0001583	missense	0			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.916G>A	22.37:g.17450854C>T	ENSP00000383431:p.Gly306Ser			Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G306S	ENST00000400588.1	37	c.916	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266632	0.23136	.	.	ENSG00000215568	ENST00000400588	T	0.41400	1.0	1.97	1.97	0.26223	.	0.178022	0.48767	N	0.000180	T	0.28928	0.0718	N	0.20685	0.6	0.39565	D	0.969194	D	0.55172	0.97	P	0.48704	0.587	T	0.04767	-1.0928	10	0.11485	T	0.65	.	9.9586	0.41682	0.0:1.0:0.0:0.0	.	306	Q2WGN9	GAB4_HUMAN	S	306	ENSP00000383431:G306S	ENSP00000383431:G306S	G	-	1	0	GAB4	15830854	1.000000	0.71417	0.997000	0.53966	0.090000	0.18270	4.834000	0.62774	1.398000	0.46701	0.411000	0.27672	GGC	GAB4	-	NULL	ENSG00000215568		0.592	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	-	0	113	0	C	XM_372882		17450854	-1	tier1	-	no_errors	ENST00000400588	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	17450854	C	T	17450854	3	4	147	1	0	0	0	0	1	0	0	0	6175	681	24	3	836	3	GAB4	22	17450854	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09		17450854	33853712	288	37643											
CECR5	27440	genome.wustl.edu	37	chr22	17619025	17619025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcataagtctcggtgcccGtggaatggaggctcccctcc	8	8	12	13	2	1	0	0	0	1	0	4	2	3	2	4	4	2	2	4	4	3	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:17619025G>T	ENST00000336737.4	-	8	1183	c.1158C>A	c.(1156-1158)caC>caA	p.H386Q	CECR5_ENST00000155674.5_Missense_Mutation_p.H356Q|CECR5_ENST00000399852.3_Missense_Mutation_p.H186Q	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	386						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CTCGGTGCCCGTGGAATGGAG	0.602																																																	0													106	91	96					22																	17619025		2203	4300	6503	SO:0001583	missense	0			AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.1158C>A	22.37:g.17619025G>T	ENSP00000337358:p.His386Gln		B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA	p.H386Q	ENST00000336737.4	37	c.1158	CCDS33595.1	22	.	.	.	.	.	.	.	.	.	.	G	14.94	2.683970	0.47991	.	.	ENSG00000069998	ENST00000155674;ENST00000336737;ENST00000399852	T;T;T	0.49432	0.78;0.78;0.78	4.47	-1.82	0.07857	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	M	0.83384	2.64	0.40650	D	0.982022	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;0.998	T	0.67260	-0.5715	10	0.66056	D	0.02	-26.8632	10.1774	0.42946	0.6105:0.0:0.3895:0.0	.	356;186;386;250	Q9BXW7-2;A8MYZ9;Q9BXW7;B3KVW8	.;.;CECR5_HUMAN;.	Q	356;386;186	ENSP00000155674:H356Q;ENSP00000337358:H386Q;ENSP00000382745:H186Q	ENSP00000155674:H356Q	H	-	3	2	CECR5	15999025	0.269000	0.24143	0.997000	0.53966	0.396000	0.30629	-0.423000	0.07034	-0.111000	0.12001	-0.367000	0.07326	CAC	CECR5	-	superfamily_HAD-like_dom	ENSG00000069998		0.602	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CECR5	HGNC	protein_coding	OTTHUMT00000316100.1		0	76	0	G	NM_017829		17619025	-1			no_errors	ENST00000336737	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.997	T	T	17619025	G	T	17619025	3	4	147	1	0	0	0	0	1	0	0	0	3214	1136	40	2	117	2	CECR5	22	17619025	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	168171	17619025	33685541	289	37644											
CLDN5	7122	genome.wustl.edu	37	chr22	19511944	19511944	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctgccagctcctgccGgggggtaccctctttgaagg	4	10	15	12	1	2	1	0	1	2	0	3	1	3	1	4	5	4	2	4	5	2	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:19511944G>T	ENST00000406028.1	-	2	1150	c.90C>A	c.(88-90)ccC>ccA	p.P30P	CLDN5_ENST00000403084.1_Silent_p.P30P|CLDN5_ENST00000413119.2_Silent_p.P30P			O00501	CLD5_HUMAN	claudin 5	0					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					AGCTCCTGCCGGGGGGTACCC	0.741																																																	0													3	4	4					22																	19511944		593	1402	1995	SO:0001819	synonymous_variant	0			AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"Claudins"	2047	protein-coding gene	gene with protein product		602101	"transmembrane protein deleted in velocardiofacial syndrome"	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.90C>A	22.37:g.19511944G>T			B3KS11|Q53XW2|Q8WUW3	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin5	p.P30	ENST00000406028.1	37	c.90	CCDS13763.2	22																																																																																			CLDN5	-	NULL	ENSG00000184113		0.741	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDN5	HGNC	protein_coding	OTTHUMT00000318122.3	-	0	45	0	G	NM_003277		19511944	-1	tier1	-	no_errors	ENST00000403084	ensembl	human	known	74_37	silent	50.00	0	2	SNP	0.015	T	T	19511944	G	T	19511944	2	4	147	1	0	0	0	0	0	0	0	1	3495	1103	39	2		2	CLDN5	22	19511944	Silent	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	1892919	19511944	31792622	290	37645											
CSF2RB	1439	genome.wustl.edu	37	chr22	37322157	37322157	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcgtcactgacgttgactActtctcattccaaccagaca	10	12	6	13	2	2	3	2	2	1	1	5	3	3	3	2	0	2	1	2	0	2	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:37322157A>G	ENST00000403662.3	+	4	551	c.329A>G	c.(328-330)tAc>tGc	p.Y110C	CSF2RB_ENST00000536485.1_Missense_Mutation_p.Y51C|CSF2RB_ENST00000262825.5_Missense_Mutation_p.Y110C|CSF2RB_ENST00000406230.1_Missense_Mutation_p.Y110C			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	110					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)	GACGTTGACTACTTCTCATTC	0.622																																																	0													103	84	90					22																	37322157		2203	4300	6503	SO:0001583	missense	0			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.329A>G	22.37:g.37322157A>G	ENSP00000384053:p.Tyr110Cys		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Y110C	ENST00000403662.3	37	c.329	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	A	11.55	1.672692	0.29693	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.37	-0.00228	0.14031	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.864447	0.09647	N	0.774114	T	0.67804	0.2932	M	0.68952	2.095	0.20074	N	0.999937	D;D	0.69078	0.996;0.997	P;P	0.62813	0.907;0.733	T	0.55405	-0.8146	10	0.59425	D	0.04	-4.2428	0.4069	0.00434	0.4431:0.1675:0.1922:0.1971	.	110;110	P32927-2;P32927	.;IL3RB_HUMAN	C	110;110;110;110;30;51	ENSP00000384053:Y110C;ENSP00000262825:Y110C;ENSP00000385271:Y110C;ENSP00000393585:Y30C;ENSP00000440003:Y51C	ENSP00000262825:Y110C	Y	+	2	0	CSF2RB	35652103	0.158000	0.22850	0.321000	0.25320	0.004000	0.04260	0.064000	0.14437	0.097000	0.17492	-0.411000	0.06167	TAC	CSF2RB	-	pirsf_IL3_rcpt_beta,superfamily_Fibronectin_type3	ENSG00000100368		0.622	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	-	0	56	0	A	NM_000395		37322157	1	tier1	-	no_errors	ENST00000262825	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.282	G	G	37322157	A	G	37322157	3	3	147	1	0	0	0	0	1	0	0	0	3944	391	14	4	339	4	CSF2RB	22	37322157	Missense_Mutation	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	17810213	37322157	13982409	291	37646											
ENTHD1	150350	genome.wustl.edu	37	chr22	40140082	40140082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacatcagaagacactgggcCcctagaagcaaaggagtgat	15	6	11	9	0	1	4	1	1	0	3	1	5	1	5	2	2	2	1	2	2	5	2			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:40140082C>A	ENST00000325157.6	-	7	1676	c.1426G>T	c.(1426-1428)Ggc>Tgc	p.G476C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	476										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GACACTGGGCCCCTAGAAGCA	0.423																																																	0													71	73	73					22																	40140082		2203	4300	6503	SO:0001583	missense	0			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.1426G>T	22.37:g.40140082C>A	ENSP00000317431:p.Gly476Cys		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.G476C	ENST00000325157.6	37	c.1426	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454934	0.26161	.	.	ENSG00000176177	ENST00000325157	T	0.51817	0.69	5.56	-2.63	0.06133	.	1.210600	0.05897	N	0.629275	T	0.37919	0.1021	L	0.50333	1.59	0.09310	N	1	B	0.24258	0.1	B	0.20384	0.029	T	0.35699	-0.9778	10	0.41790	T	0.15	-1.4183	5.6864	0.17805	0.1344:0.4623:0.0:0.4034	.	476	Q8IYW4	ENTD1_HUMAN	C	476	ENSP00000317431:G476C	ENSP00000317431:G476C	G	-	1	0	ENTHD1	38470028	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-1.698000	0.01908	-0.167000	0.10871	0.650000	0.86243	GGC	ENTHD1	-	NULL	ENSG00000176177		0.423	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	-	0	48	0	C	NM_152512		40140082	-1	tier1	-	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	A	A	40140082	C	A	40140082	3	1	147	1	0	0	0	0	1	0	0	0	5153	623	22	3	401	3	ENTHD1	22	40140082	Missense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09	2817925	40140082	11164484	292	37647											
MOV10L1	54456	genome.wustl.edu	37	chr22	50530519	50530519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgatctacttctccagtGatgctgtgactagcagagtg	10	13	10	8	0	2	4	0	3	2	1	3	4	2	4	1	0	3	2	1	0	3	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:50530519G>T	ENST00000262794.5	+	2	270	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	MOV10L1_ENST00000395858.3_Missense_Mutation_p.D63Y|MOV10L1_ENST00000540615.1_Missense_Mutation_p.D43Y|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.D63Y	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	63					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)		CTTCTCCAGTGATGCTGTGAC	0.448																																																	0													309	257	274					22																	50530519		2203	4300	6503	SO:0001583	missense	0			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.187G>T	22.37:g.50530519G>T	ENSP00000262794:p.Asp63Tyr		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold	p.D63Y	ENST00000262794.5	37	c.187	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053520	0.75960	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000428564	D;D;D;D	0.87887	-2.13;-2.13;-1.74;-2.31	5.21	5.21	0.72293	.	0.747115	0.13221	N	0.404371	D	0.93341	0.7877	M	0.72118	2.19	0.80722	D	1	P;D;P;P	0.89917	0.905;1.0;0.846;0.846	P;D;P;P	0.72338	0.6;0.977;0.499;0.58	D	0.92975	0.6401	10	0.72032	D	0.01	-15.2505	18.4023	0.90520	0.0:0.0:1.0:0.0	.	43;43;63;63	F5H403;E7EPK8;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	Y	63;63;63;43;43	ENSP00000438978:D63Y;ENSP00000262794:D63Y;ENSP00000379199:D63Y;ENSP00000438542:D43Y	ENSP00000262794:D63Y	D	+	1	0	MOV10L1	48872646	0.996000	0.38824	0.041000	0.18516	0.955000	0.61496	4.343000	0.59348	2.431000	0.82371	0.650000	0.86243	GAT	MOV10L1	-	superfamily_NA-bd_OB-fold	ENSG00000073146		0.448	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	-	0	100	0	G	NM_018995		50530519	1	tier1	-	no_errors	ENST00000262794	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.748	T	T	50530519	G	T	50530519	3	4	147	1	0	0	0	0	1	0	0	0	9757	1290	45	3	234	3	MOV10L1	22	50530519	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	10390437	50530519	774047	293	37648											
MOV10L1	54456	genome.wustl.edu	37	chr22	50582644	50582644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagccggccaccatggtccGggtgaacgccacctgcaggt	8	5	13	15	3	0	1	0	1	0	0	1	1	1	1	6	4	3	1	6	4	1	0			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:50582644G>T	ENST00000262794.5	+	18	2560	c.2477G>T	c.(2476-2478)cGg>cTg	p.R826L	MOV10L1_ENST00000395858.3_Missense_Mutation_p.R826L|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R806L|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000545383.1_Missense_Mutation_p.R826L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	826					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)		ACCATGGTCCGGGTGAACGCC	0.612																																																	0													85	75	78					22																	50582644		2203	4300	6503	SO:0001583	missense	0			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.2477G>T	22.37:g.50582644G>T	ENSP00000262794:p.Arg826Leu		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold	p.R826L	ENST00000262794.5	37	c.2477	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046868	0.93740	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.52	5.52	0.82312	.	0.048141	0.85682	D	0.000000	D	0.93370	0.7886	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.996;0.998	D	0.94091	0.7353	10	0.72032	D	0.01	-33.2565	19.8046	0.96525	0.0:0.0:1.0:0.0	.	806;826;826	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	L	826;826;826;806	ENSP00000438978:R826L;ENSP00000262794:R826L;ENSP00000379199:R826L;ENSP00000438542:R806L	ENSP00000262794:R826L	R	+	2	0	MOV10L1	48924771	1.000000	0.71417	0.506000	0.27664	0.735000	0.41995	9.136000	0.94489	2.748000	0.94277	0.655000	0.94253	CGG	MOV10L1	-	superfamily_P-loop_NTPase	ENSG00000073146		0.612	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	-	0	46	0	G	NM_018995		50582644	1	tier1	-	no_errors	ENST00000262794	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.764	T	T	50582644	G	T	50582644	3	4	147	1	0	0	0	0	1	0	0	0	9757	1116	39	2	2588	2	MOV10L1	22	50582644	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	52125	50582644	721922	294	37649											
DMD	1756	genome.wustl.edu	37	chrX	32509576	32509576	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttagcaactggcagaattCgatccaccggctgttcagtt	10	11	9	11	2	1	1	1	0	0	1	3	2	2	1	2	2	2	5	2	2	3	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chrX:32509576C>A	ENST00000357033.4	-	20	2646	c.2440G>T	c.(2440-2442)Gaa>Taa	p.E814*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E810*	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	814					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)				TGGCAGAATTCGATCCACCGG	0.408																																																	0													82	66	72					X																	32509576		2202	4300	6502	SO:0001587	stop_gained	0			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.2440G>T	X.37:g.32509576C>A	ENSP00000354923:p.Glu814*		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.E814*	ENST00000357033.4	37	c.2440	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.187096	0.99094	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	4.94	4.07	0.47477	.	0.000000	0.37348	U	0.002133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	13.0022	0.58683	0.0:0.9185:0.0:0.0815	.	.	.	.	X	806;810;814;814;691	.	ENSP00000354923:E814X	E	-	1	0	DMD	32419497	1.000000	0.71417	0.202000	0.23494	0.984000	0.73092	5.634000	0.67833	0.990000	0.38787	0.429000	0.28392	GAA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	35	0	C	NM_004006		32509576	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	nonsense	29.41	24	10	SNP	0.939	A	A	32509576	C	A	32509576	4	1	147	1	0	0	0	0	0	1	0	0	4594	893	31	2	9100	2	DMD	23	32509576	Nonsense_Mutation	SNP	C	TCGA-R6-A6Y2-01B-11D-A33E-09		32509576	122760984	295	37650											
KDM6A	7403	genome.wustl.edu	37	chrX	44920585	44920585	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatacttctgacaattGgagtggtggacatgctgtgt	10	13	12	6	0	2	2	1	1	1	1	2	4	2	4	0	3	2	1	0	3	3	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chrX:44920585G>A	ENST00000377967.4	+	14	1387	c.1346G>A	c.(1345-1347)tGg>tAg	p.W449*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W404*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W456*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W404*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	449	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						TCTGACAATTGGAGTGGTGGA	0.353			"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)											62	50	54					X																	44920585		2203	4300	6503	SO:0001587	stop_gained	0			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.1346G>A	X.37:g.44920585G>A	ENSP00000367203:p.Trp449*		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W456*	ENST00000377967.4	37	c.1367	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.939454|5.939454	0.97128|0.97128	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000451692|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.239988	.|0.45606	.|D	.|0.000345	T|.	0.47097|.	0.1427|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40478|.	-0.9561|.	3|.	.|0.02654	.|T	.|1	-5.156|-5.156	18.9152|18.9152	0.92503|0.92503	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	113|146;449;404;456;404;42	.|.	.|ENSP00000334340:W146X	G|W	+|+	1|2	0|0	KDM6A|KDM6A	44805529|44805529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	6.820000|6.820000	0.75267|0.75267	2.414000|2.414000	0.81942|0.81942	0.506000|0.506000	0.49869|0.49869	GGA|TGG	KDM6A	-	NULL	ENSG00000147050		0.353	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	-	0	29	0	G	NM_021140		44920585	1	tier1	-	no_errors	ENST00000382899	ensembl	human	known	74_37	nonsense	57.14	21	28	SNP	1.000	A	A	44920585	G	A	44920585	4	1	147	1	0	0	0	0	0	1	0	0	8164	1357	47	3	1400	3	KDM6A	23	44920585	Nonsense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	12411009	44920585	110349975	296	37651											
TRO	7216	genome.wustl.edu	37	chrX	54957319	54957319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcaccagtggcttcagcGgtggaccgagcacaggagct	10	5	14	12	2	1	0	1	0	0	0	1	3	1	2	2	4	4	4	2	4	1	1			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chrX:54957319G>T	ENST00000173898.7	+	12	4274	c.4162G>T	c.(4162-4164)Ggt>Tgt	p.G1388C	TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G991C|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G919C	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1388	62 X 10 AA approximate tandem repeats.				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						TGGCTTCAGCGGTGGACCGAG	0.612																																																	0													65	67	66					X																	54957319		2037	4184	6221	SO:0001583	missense	0			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.4162G>T	X.37:g.54957319G>T	ENSP00000173898:p.Gly1388Cys		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.G1388C	ENST00000173898.7	37	c.4162	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641383	0.29157	.	.	ENSG00000067445	ENST00000173898;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T	0.07688	3.91;3.17;3.55	1.48	-0.998	0.10212	.	.	.	.	.	T	0.16642	0.0400	L	0.48642	1.525	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.13791	-1.0496	9	0.87932	D	0	.	4.5971	0.12334	0.3921:0.0:0.6079:0.0	.	991;1388	B1AKE9;Q12816	.;TROP_HUMAN	C	1388;314;919;991	ENSP00000173898:G1388C;ENSP00000405126:G919C;ENSP00000364181:G991C	ENSP00000173898:G1388C	G	+	1	0	TRO	54974044	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-4.125000	0.00290	-0.430000	0.07318	-0.347000	0.07816	GGT	TRO	-	NULL	ENSG00000067445		0.612	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	-	0	40	0	G	NM_016157		54957319	1	tier1	-	no_errors	ENST00000173898	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.221	T	T	54957319	G	T	54957319	3	4	147	1	0	0	0	0	1	0	0	0	16622	1116	39	2	4204	2	TRO	23	54957319	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	10036734	54957319	100313241	297	37652											
SLC25A43	203427	genome.wustl.edu	37	chrX	118586029	118586029	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	atgtccatttctcaggagcaGtggactgcttccggcagata	9	11	11	10	1	1	1	1	0	1	1	4	3	3	3	2	3	2	3	2	3	1	3			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chrX:118586029G>A	ENST00000217909.7	+	4	1092	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Missense_Mutation_p.S192N	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	250					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTCAGGAGCAGTGGACTGCTT	0.547																																																	0													73	74	74					X																	118586029		2203	4300	6503	SO:0001583	missense	0			BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"Solute carriers"	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.748G>A	X.37:g.118586029G>A	ENSP00000217909:p.Val250Met		O75854|Q8N9L5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.V250M	ENST00000217909.7	37	c.748	CCDS14577.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.184|8.184	0.794479|0.794479	0.16327|0.16327	.|.	.|.	ENSG00000077713|ENSG00000077713	ENST00000336249|ENST00000217909;ENST00000326714	T|T	0.77229|0.79845	-1.08|-1.31	5.37|5.37	2.45|2.45	0.29901|0.29901	.|Mitochondrial carrier domain (2);	.|.	.|.	.|.	.|.	T|T	0.69251|0.69251	0.3090|0.3090	L|L	0.41356|0.41356	1.27|1.27	0.09310|0.09310	N|N	1|1	B|B	0.20671|0.16603	0.047|0.018	B|B	0.14578|0.21151	0.011|0.033	T|T	0.53244|0.53244	-0.8466|-0.8466	9|9	0.18710|0.25106	T|T	0.47|0.35	.|.	5.4156|5.4156	0.16372|0.16372	0.3506:0.1335:0.5159:0.0|0.3506:0.1335:0.5159:0.0	.|.	192|250	B4E1P8|Q8WUT9	.|S2543_HUMAN	N|M	192|250;198	ENSP00000338628:S192N|ENSP00000217909:V250M	ENSP00000338628:S192N|ENSP00000217909:V250M	S|V	+|+	2|1	0|0	SLC25A43|SLC25A43	118470057|118470057	0.939000|0.939000	0.31865|0.31865	0.078000|0.078000	0.20375|0.20375	0.650000|0.650000	0.38633|0.38633	0.484000|0.484000	0.22308|0.22308	0.065000|0.065000	0.16485|0.16485	-0.208000|-0.208000	0.12717|0.12717	AGT|GTG	SLC25A43	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000077713		0.547	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A43	HGNC	protein_coding	OTTHUMT00000058028.1	-	0	62	0	G	NM_145305		118586029	1	tier1	-	no_errors	ENST00000217909	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.032	A	A	118586029	G	A	118586029	3	1	147	1	0	0	0	0	1	0	0	0	14553	1029	36	3	762	3	SLC25A43	23	118586029	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	63628710	118586029	36684531	298	37653											
GPR112	139378	genome.wustl.edu	37	chrX	135427224	135427224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtttacagtggaaaaGacttcacctgcatctactca	11	12	7	11	0	3	1	2	0	1	1	3	2	3	2	2	2	3	2	2	2	4	5			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chrX:135427224G>T	ENST00000394143.1	+	6	1650	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	GPR112_ENST00000412101.1_Missense_Mutation_p.K248N|GPR112_ENST00000370652.1_Missense_Mutation_p.K453N|GPR112_ENST00000287534.4_Missense_Mutation_p.K390N|GPR112_ENST00000394141.1_Missense_Mutation_p.K248N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	453					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)					CAGTGGAAAAGACTTCACCTG	0.478																																																	0													83	73	77					X																	135427224		2203	4300	6503	SO:0001583	missense	0			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.1359G>T	X.37:g.135427224G>T	ENSP00000377699:p.Lys453Asn		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.K453N	ENST00000394143.1	37	c.1359	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	g	2.301	-0.360110	0.05103	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29397	1.6;1.6;1.57;1.71;1.57	3.78	-0.262	0.12958	.	.	.	.	.	T	0.14013	0.0339	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33103	0.397;0.187;0.118	B;B;B	0.28638	0.092;0.055;0.025	T	0.16217	-1.0410	9	0.62326	D	0.03	.	3.3226	0.07056	0.3507:0.0:0.4658:0.1835	.	390;248;453	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	N	453;453;248;390;248	ENSP00000377699:K453N;ENSP00000359686:K453N;ENSP00000416526:K248N;ENSP00000287534:K390N;ENSP00000377697:K248N	ENSP00000287534:K390N	K	+	3	2	GPR112	135254890	0.128000	0.22383	0.001000	0.08648	0.048000	0.14542	0.140000	0.16056	-0.354000	0.08212	0.411000	0.27672	AAG	GPR112	-	NULL	ENSG00000156920		0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	-	0	25	0	G			135427224	1	tier1	-	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.008	T	T	135427224	G	T	135427224	3	4	147	1	0	0	0	0	1	0	0	0	6655	933	33	3	1369	3	GPR112	23	135427224	Missense_Mutation	SNP	G	TCGA-R6-A6Y2-01B-11D-A33E-09	16841195	135427224	19843336	299	37654											
ZNF275	10838	genome.wustl.edu	37	chrX	152612275	152612275	+	Splice_Site	SNP	A	A	C	1	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	tgccttgtgtttatcgtttcAgaaagcacctccgcgacccg	7	12	9	13	4	1	1	1	0	0	1	3	2	2	1	4	0	2	3	4	0	2	4			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chrX:152612275A>C	ENST00000421401.3	+	4	310		c.e4-1		ZNF275_ENST00000440091.1_Splice_Site|ZNF275_ENST00000370249.2_Splice_Site|ZNF275_ENST00000370251.3_Splice_Site			Q9NSD4	ZN275_HUMAN	zinc finger protein 275						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTATCGTTTCAGAAAGCACCT	0.547																																																	0													31	32	32					X																	152612275		2030	4161	6191	SO:0001630	splice_region_variant	0			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"Zinc fingers, C2H2-type", "-"	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.134-1A>C	X.37:g.152612275A>C			A6NE92	Splice_Site	SNP	-	e4-2	ENST00000421401.3	37	c.224-2		X	.	.	.	.	.	.	.	.	.	.	A	12.39	1.924278	0.34002	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091	.	.	.	4.39	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8547	0.08970	0.6451:0.2408:0.1141:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF275	152265469	.	.	0.488000	0.27440	0.215000	0.24574	.	.	0.801000	0.34066	0.486000	0.48141	.	ZNF275	-	-	ENSG00000063587		0.547	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	HGNC	protein_coding		-	0	76	0	A	NM_001080485	Intron	152612275	1	tier1	-	no_errors	ENST00000440091	ensembl	human	known	74_37	splice_site	12.28	50	7	SNP	0.922	C	C	152612275	A	C	152612275	5	2	147	1	0	0	0	0	0	0	1	0	17858	202	7	4	142	4	ZNF275	23	152612275	Splice_Site	SNP	A	TCGA-R6-A6Y2-01B-11D-A33E-09	17185051	152612275	2658285	300	37655											
KIF17	57576	genome.wustl.edu	37	chr1	21036160	21036160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatctcgatgctgatggtGaagatggagtgcgagcgtga	10	9	16	6	3	1	4	0	3	1	1	2	8	1	5	0	2	3	1	0	2	1	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:21036160G>T	ENST00000247986.2	-	4	952	c.642C>A	c.(640-642)ttC>ttA	p.F214L	KIF17_ENST00000400463.3_Missense_Mutation_p.F214L|KIF17_ENST00000375044.1_Missense_Mutation_p.F114L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	214	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)		TGCTGATGGTGAAGATGGAGT	0.597																																																	0													164	111	129					1																	21036160		2203	4300	6503	SO:0001583	missense	0			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.642C>A	1.37:g.21036160G>T	ENSP00000247986:p.Phe214Leu		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.F214L	ENST00000247986.2	37	c.642	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918921	0.73098	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.76316	-1.01;-1.01;-1.01	4.63	3.7	0.42460	Kinesin, motor domain (5);	0.000000	0.34046	U	0.004311	T	0.80894	0.4711	L	0.43554	1.36	0.49798	D	0.999825	D;D	0.71674	0.994;0.998	D;D	0.72982	0.932;0.979	T	0.80627	-0.1298	10	0.87932	D	0	.	7.4186	0.27059	0.1977:0.0:0.8023:0.0	.	214;214	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	L	114;214;214	ENSP00000364184:F114L;ENSP00000383311:F214L;ENSP00000247986:F214L	ENSP00000247986:F214L	F	-	3	2	KIF17	20908747	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.206000	0.42779	1.139000	0.42245	0.462000	0.41574	TTC	KIF17	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000117245		0.597	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	-	0	51	0	G	NM_020816		21036160	-1	tier1	-	no_errors	ENST00000247986	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	21036160	G	T	21036160	3	4	148	1	0	0	0	0	1	0	0	0	8306	1281	45	3	2495	3	KIF17	1	21036160	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		21036160	228214461	1	37656											
ZMYM4	9202	genome.wustl.edu	37	chr1	35852871	35852871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaaaccagaacttcttGactataaggtaaagtatagc	17	9	6	9	0	1	2	0	1	1	1	1	2	1	2	2	1	3	2	2	1	9	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:35852871G>T	ENST00000314607.6	+	12	2184	c.2104G>T	c.(2104-2106)Gac>Tac	p.D702Y	ZMYM4_ENST00000373297.2_Missense_Mutation_p.D613Y	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	702					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)				AGAACTTCTTGACTATAAGGT	0.373																																																	0													50	43	45					1																	35852871		2203	4300	6503	SO:0001583	missense	0			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.2104G>T	1.37:g.35852871G>T	ENSP00000322915:p.Asp702Tyr		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom	p.D702Y	ENST00000314607.6	37	c.2104	CCDS389.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.88|18.88	3.718206|3.718206	0.68844|0.68844	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.24723|.	1.84;1.88|.	5.66|5.66	5.66|5.66	0.87406|0.87406	TRASH (1);Zinc finger, MYM-type (1);|.	0.111255|.	0.64402|.	D|.	0.000013|.	T|.	0.70159|.	0.3192|.	L|L	0.48642|0.48642	1.525|1.525	0.49915|0.49915	D|D	0.999836|0.999836	D|.	0.58620|.	0.983|.	D|.	0.65684|.	0.937|.	T|.	0.65203|.	-0.6225|.	10|.	0.48119|.	T|.	0.1|.	-11.9003|-11.9003	19.7395|19.7395	0.96220|0.96220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	702|.	Q5VZL5|.	ZMYM4_HUMAN|.	Y|L	702;613|361	ENSP00000322915:D702Y;ENSP00000362394:D613Y|.	ENSP00000322915:D702Y|.	D|X	+|+	1|2	0|2	ZMYM4|ZMYM4	35625458|35625458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.572000|4.572000	0.60886|0.60886	2.669000|2.669000	0.90835|0.90835	0.655000|0.655000	0.94253|0.94253	GAC|TGA	ZMYM4	-	pfam_Znf_MYM,smart_TRASH_dom	ENSG00000146463		0.373	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3		0	26	0	G	NM_005095		35852871	1			no_errors	ENST00000314607	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	35852871	G	T	35852871	3	4	148	1	0	0	0	0	1	0	0	0	17750	1290	45	3	2150	3	ZMYM4	1	35852871	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	14816711	35852871	213397750	2	37657											
HIVEP3	59269	genome.wustl.edu	37	chr1	41979411	41979411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagtcctggaacaggtcGtcactggttcctgagggcaa	8	9	13	11	2	1	1	1	1	0	0	5	3	4	2	3	4	1	2	3	4	2	1	rs372654136		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:41979411G>A	ENST00000372583.1	-	8	6366	c.5481C>T	c.(5479-5481)gaC>gaT	p.D1827D	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Silent_p.D1827D|HIVEP3_ENST00000372584.1_Silent_p.D1827D|HIVEP3_ENST00000247584.5_Silent_p.D1827D	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1827	Acidic 3.				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)				GGAACAGGTCGTCACTGGTTC	0.602																																																	0													38	40	40					1																	41979411		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5481C>T	1.37:g.41979411G>A			A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1827	ENST00000372583.1	37	c.5481	CCDS463.1	1																																																																																			HIVEP3	-	NULL	ENSG00000127124		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1		0	41	0	G	NM_024503		41979411	-1			no_errors	ENST00000247584	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.727	A	A	41979411	G	A	41979411	2	1	148	1	0	0	0	0	0	0	0	1	7215	1136	40	1		1	HIVEP3	1	41979411	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	6126540	41979411	207271210	3	37658											
AGBL4	84871	genome.wustl.edu	37	chr1	49511431	49511431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagttcttcctatggtccGggcagcggtagtagtaaaca	10	11	11	9	2	1	0	0	0	1	0	3	0	3	0	2	3	2	5	2	3	6	7	rs370128287		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:49511431G>A	ENST00000371839.1	-	5	535	c.419C>T	c.(418-420)cCg>cTg	p.P140L	RP11-141A19.1_ENST00000456002.1_RNA|AGBL4_ENST00000371838.1_Missense_Mutation_p.P140L|AGBL4_ENST00000371836.1_Missense_Mutation_p.P140L	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	140					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)		CCTATGGTCCGGGCAGCGGTA	0.403																																																	0								G	LEU/PRO	1,1383		0,1,691	90	75	79		419	5.6	1	1		79	0,3182		0,0,1591	no	missense	AGBL4	NM_032785.3	98	0,1,2282	AA,AG,GG		0.0,0.0723,0.0219	probably-damaging	140/504	49511431	1,4565	692	1591	2283	SO:0001583	missense	0			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.419C>T	1.37:g.49511431G>A	ENSP00000360905:p.Pro140Leu		B3KT26|B4DG37	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14	p.P140L	ENST00000371839.1	37	c.419	CCDS44137.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824141	0.90873	7.23E-4	0.0	ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000371838;ENST00000371836	T;T;T	0.27402	1.67;1.67;1.67	5.6	5.6	0.85130	.	0.545382	0.17900	N	0.158213	T	0.58581	0.2132	M	0.76433	2.335	0.80722	D	1	D;B	0.89917	1.0;0.236	D;B	0.91635	0.999;0.053	T	0.55860	-0.8074	9	.	.	.	-5.4607	18.6038	0.91259	0.0:0.0:1.0:0.0	.	152;140	Q5VU57-2;Q5VU57	.;CBPC6_HUMAN	L	140;134;140;140	ENSP00000360905:P140L;ENSP00000360904:P140L;ENSP00000360902:P140L	.	P	-	2	0	AGBL4	49284018	1.000000	0.71417	0.994000	0.49952	0.915000	0.54546	9.444000	0.97578	2.640000	0.89533	0.563000	0.77884	CCG	AGBL4	-	NULL	ENSG00000186094		0.403	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4	-	0	34	0	G	NM_032785		49511431	-1	tier1	-	no_errors	ENST00000371839	ensembl	human	known	74_37	missense	26.83	30	11	SNP	1.000	A	A	49511431	G	A	49511431	3	1	148	1	0	0	0	0	1	0	0	0	377	1116	39	1	1132	1	AGBL4	1	49511431	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	7532020	49511431	199739190	4	37659											
MSH4	4438	genome.wustl.edu	37	chr1	76365303	76365303	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttaaaacaaataattctagGattaaaagctgcagaggtgt	17	12	8	4	0	1	1	0	0	1	1	1	2	1	2	0	2	3	2	0	2	7	6			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:76365303G>A	ENST00000263187.3	+	19	2635	c.2531G>A	c.(2530-2532)gGa>gAa	p.G844E		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	844					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)	p.G844E(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATAATTCTAGGATTAAAAGCT	0.313								Mismatch excision repair (MMR)																																									1	Substitution - Missense(1)	skin(1)											79	84	82					1																	76365303		2203	4298	6501	SO:0001630	splice_region_variant	0			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.2531-1G>A	1.37:g.76365303G>A			Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.G844E	ENST00000263187.3	37	c.2531	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132192	0.77662	.	.	ENSG00000057468	ENST00000263187	D	0.95272	-3.66	5.61	5.61	0.85477	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	H	0.98754	4.32	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.99731	1.1012	9	.	.	.	.	17.8182	0.88642	0.0:0.0:1.0:0.0	.	844	O15457	MSH4_HUMAN	E	844	ENSP00000263187:G844E	.	G	+	2	0	MSH4	76137891	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.777000	0.85628	2.643000	0.89663	0.467000	0.42956	GGA	MSH4	-	pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C	ENSG00000057468		0.313	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	-	0	100	0	G	NM_002440	Missense_Mutation	76365303	1	tier1	-	no_errors	ENST00000263187	ensembl	human	known	74_37	missense	8.00	91	8	SNP	1.000	A	A	76365303	G	A	76365303	5	1	148	1	0	0	0	0	0	0	1	0	9910	1188	41	3	2605	3	MSH4	1	76365303	Splice_Site	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	26853872	76365303	172885318	5	37660											
AK5	26289	genome.wustl.edu	37	chr1	78024350	78024350	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacagctattgactctattTtctgaaggcaaaaatgcatg	13	12	8	8	0	2	2	0	2	2	0	2	2	2	2	0	1	2	4	0	1	5	5	rs77417596		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:78024350T>A	ENST00000354567.2	+	14	1947	c.1684T>A	c.(1684-1686)Ttc>Atc	p.F562I	AK5_ENST00000478255.1_Missense_Mutation_p.F77I|AK5_ENST00000344720.5_Missense_Mutation_p.F536I	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	562					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						TGACTCTATTTTCTGAAGGCA	0.333																																																	0													96	84	88					1																	78024350		2203	4300	6503	SO:0001583	missense	0			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.1684T>A	1.37:g.78024350T>A	ENSP00000346577:p.Phe562Ile		Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.F562I	ENST00000354567.2	37	c.1684	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950980	0.73787	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478255	T;T;T	0.77877	-0.68;-0.68;-1.13	5.64	5.64	0.86602	.	0.163070	0.42420	D	0.000709	T	0.63129	0.2485	L	0.50333	1.59	0.40982	D	0.984786	B	0.23891	0.093	B	0.12837	0.008	T	0.64089	-0.6489	10	0.44086	T	0.13	-3.2311	16.1703	0.81808	0.0:0.0:0.0:1.0	rs6485	562	Q9Y6K8	KAD5_HUMAN	I	562;536;77	ENSP00000346577:F562I;ENSP00000341430:F536I;ENSP00000433915:F77I	ENSP00000341430:F536I	F	+	1	0	AK5	77796938	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.544000	0.45761	2.284000	0.76573	0.528000	0.53228	TTC	AK5	-	superfamily_P-loop_NTPase	ENSG00000154027		0.333	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	HGNC	protein_coding	OTTHUMT00000026993.4		0	78	0	T	NM_174858		78024350	1			no_errors	ENST00000354567	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	78024350	T	A	78024350	3	1	148	1	0	0	0	0	1	0	0	0	443	1841	64	5	1738	5	AK5	1	78024350	Missense_Mutation	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09	1659047	78024350	171226271	6	37661											
TNFAIP8L2	79626	genome.wustl.edu	37	chr1	151131355	151131355	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggcccagcgcgtgatcaAggacctgatcaaagtggcca	11	5	12	13	2	2	2	2	2	0	0	2	3	2	3	4	3	1	0	4	3	2	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:151131355A>T	ENST00000368910.3	+	2	308	c.182A>T	c.(181-183)aAg>aTg	p.K61M		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	61					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)			CGCGTGATCAAGGACCTGATC	0.592																																																	0													51	49	50					1																	151131355		2203	4300	6503	SO:0001583	missense	0			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	ENST00000368910.3:c.182A>T	1.37:g.151131355A>T	ENSP00000357906:p.Lys61Met		Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	pfam_DUF758	p.K61M	ENST00000368910.3	37	c.182	CCDS985.1	1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682344	0.88542	.	.	ENSG00000163154	ENST00000368910	T	0.49432	0.78	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73685	-0.3905	10	0.87932	D	0	-4.1057	14.9096	0.70746	1.0:0.0:0.0:0.0	.	61	Q6P589	TP8L2_HUMAN	M	61	ENSP00000357906:K61M	ENSP00000357906:K61M	K	+	2	0	TNFAIP8L2	149397979	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.339000	0.96797	2.159000	0.67721	0.533000	0.62120	AAG	TNFAIP8L2	-	pfam_DUF758	ENSG00000163154		0.592	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	TNFAIP8L2	HGNC	protein_coding	OTTHUMT00000034069.2	-	0	35	0	A	NM_024575		151131355	1	tier1	-	no_errors	ENST00000368910	ensembl	human	known	74_37	missense	43.40	30	23	SNP	1.000	T	T	151131355	A	T	151131355	3	4	148	1	0	0	0	0	1	0	0	0	16325	72	3	5	184	5	TNFAIP8L2	1	151131355	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	73107005	151131355	98119266	7	37662											
FLG	2312	genome.wustl.edu	37	chr1	152283911	152283911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctgagtgcctggagctgtCtcgtgcctgctcgtggtggg	2	11	17	11	3	1	1	0	1	1	0	3	2	1	2	2	3	4	3	2	3	0	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:152283911C>T	ENST00000368799.1	-	3	3486	c.3451G>A	c.(3451-3453)Gac>Aac	p.D1151N	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	1151	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTGTCTCGTGCCTGC	0.602									Ichthyosis																																								0													201	242	228					1																	152283911		2203	4296	6499	SO:0001583	missense	0	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.3451G>A	1.37:g.152283911C>T	ENSP00000357789:p.Asp1151Asn		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.D1151N	ENST00000368799.1	37	c.3451	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	9.729	1.161652	0.21538	.	.	ENSG00000143631	ENST00000368799	T	0.04454	3.62	3.18	1.11	0.20524	.	.	.	.	.	T	0.06234	0.0161	M	0.69248	2.105	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.39702	-0.9601	9	0.25751	T	0.34	.	4.916	0.13846	0.2437:0.5186:0.2377:0.0	.	1151	P20930	FILA_HUMAN	N	1151	ENSP00000357789:D1151N	ENSP00000357789:D1151N	D	-	1	0	FLG	150550535	0.003000	0.15002	0.086000	0.20670	0.189000	0.23516	0.665000	0.25083	1.626000	0.50381	0.186000	0.17326	GAC	FLG	-	NULL	ENSG00000143631		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	168	0	C	NM_002016		152283911	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	23.11	163	49	SNP	0.004	T	T	152283911	C	T	152283911	3	4	148	1	0	0	0	0	1	0	0	0	5944	913	32	3	8738	3	FLG	1	152283911	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	1152556	152283911	96966710	8	37663											
FLG	2312	genome.wustl.edu	37	chr1	152287150	152287150	+	Missense_Mutation	SNP	A	A	C	1	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	ccatcagaagaaactcagtgAagtcaattttcttgttgtgg	12	13	9	7	0	4	3	3	1	1	2	4	3	4	3	1	1	1	1	1	1	4	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:152287150A>C	ENST00000368799.1	-	3	247	c.212T>G	c.(211-213)tTc>tGc	p.F71C	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	71	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAACTCAGTGAAGTCAATTTT	0.413									Ichthyosis																																								0													110	110	110					1																	152287150		2203	4300	6503	SO:0001583	missense	0	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.212T>G	1.37:g.152287150A>C	ENSP00000357789:p.Phe71Cys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.F71C	ENST00000368799.1	37	c.212	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.409102	0.25378	.	.	ENSG00000143631	ENST00000368799	T	0.22945	1.93	5.09	5.09	0.68999	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.54208	0.1844	H	0.96943	3.91	0.28226	N	0.926307	D	0.89917	1.0	D	0.91635	0.999	T	0.62220	-0.6900	9	0.87932	D	0	-14.0653	11.2283	0.48897	1.0:0.0:0.0:0.0	.	71	P20930	FILA_HUMAN	C	71	ENSP00000357789:F71C	ENSP00000357789:F71C	F	-	2	0	FLG	150553774	0.930000	0.31532	0.882000	0.34594	0.300000	0.27592	3.999000	0.57031	2.142000	0.66516	0.477000	0.44152	TTC	FLG	-	pfscan_EF_hand_dom	ENSG00000143631		0.413	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1		0	55	0	A	NM_002016		152287150	-1			no_errors	ENST00000368799	ensembl	human	known	74_37	missense	5.61	101	6	SNP	0.927	C	C	152287150	A	C	152287150	3	2	148	1	0	0	0	0	1	0	0	0	5944	246	9	4	11977	4	FLG	1	152287150	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	3239	152287150	96963471	9	37664											
IQGAP3	128239	genome.wustl.edu	37	chr1	156542318	156542318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggcccgctgctctcctctCcatgttcctccttcttccag	2	14	7	18	1	3	0	0	0	3	0	8	0	6	0	6	1	1	3	6	1	0	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:156542318C>T	ENST00000361170.2	-	1	14	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	2					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)					GCTCTCCTCTCCATGTTCCTC	0.672																																																	0													121	128	126					1																	156542318		2203	4300	6503	SO:0001583	missense	0			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.4G>A	1.37:g.156542318C>T	ENSP00000354451:p.Glu2Lys		Q5T3H8	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.E2K	ENST00000361170.2	37	c.4	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582988	0.46006	.	.	ENSG00000183856	ENST00000361170	T	0.02631	4.22	4.03	3.11	0.35812	.	0.534882	0.16321	N	0.219546	T	0.00637	0.0021	N	0.14661	0.345	0.28904	N	0.893098	B	0.26081	0.141	B	0.25759	0.063	T	0.48747	-0.9008	10	0.28530	T	0.3	-0.0255	7.141	0.25556	0.0:0.8778:0.0:0.1222	.	2	Q86VI3	IQGA3_HUMAN	K	2	ENSP00000354451:E2K	ENSP00000354451:E2K	E	-	1	0	IQGAP3	154808942	0.994000	0.37717	0.956000	0.39512	0.806000	0.45545	1.957000	0.40392	0.882000	0.36016	0.563000	0.77884	GAG	IQGAP3	-	NULL	ENSG00000183856		0.672	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	-	0	117	0	C	NM_178229		156542318	-1	tier1	-	no_errors	ENST00000361170	ensembl	human	known	74_37	missense	15.86	122	23	SNP	0.986	T	T	156542318	C	T	156542318	3	4	148	1	0	0	0	0	1	0	0	0	7843	864	30	3	5043	3	IQGAP3	1	156542318	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	4255168	156542318	92708303	10	37665											
FMO4	2329	genome.wustl.edu	37	chr1	171306535	171306535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaaaattgatgatggaGgctactgaaaaggaacagct	16	8	10	7	0	0	3	0	3	0	0	1	5	1	5	1	3	3	2	1	3	6	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:171306535G>T	ENST00000367749.3	+	9	1551	c.1221G>T	c.(1219-1221)gaG>gaT	p.E407D		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	407					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGATGATGGAGGCTACTGAAA	0.353																																					Pancreas(24;816 862 7754 7993 32832)												0													107	102	103					1																	171306535		2203	4300	6503	SO:0001583	missense	0			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1221G>T	1.37:g.171306535G>T	ENSP00000356723:p.Glu407Asp		Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3	p.E407D	ENST00000367749.3	37	c.1221	CCDS1295.1	1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.702563	0.00719	.	.	ENSG00000076258	ENST00000367749	T	0.54071	0.59	4.85	-4.82	0.03171	.	0.339515	0.32175	N	0.006475	T	0.07503	0.0189	N	0.16602	0.42	0.09310	N	1	B	0.09022	0.002	B	0.23419	0.046	T	0.35919	-0.9769	10	0.02654	T	1	-9.0465	4.1774	0.10358	0.4287:0.0:0.2291:0.3422	.	407	P31512	FMO4_HUMAN	D	407	ENSP00000356723:E407D	ENSP00000356723:E407D	E	+	3	2	FMO4	169573159	0.007000	0.16637	0.034000	0.17996	0.120000	0.20174	-0.616000	0.05591	-0.548000	0.06199	0.655000	0.94253	GAG	FMO4	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase	ENSG00000076258		0.353	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO4	HGNC	protein_coding	OTTHUMT00000086223.1	-	0	72	0	G	NM_002022		171306535	1	tier1	-	no_errors	ENST00000367749	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.005	T	T	171306535	G	T	171306535	3	4	148	1	0	0	0	0	1	0	0	0	5979	991	35	3	1247	3	FMO4	1	171306535	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	14764217	171306535	77944086	11	37666											
ABL2	27	genome.wustl.edu	37	chr1	179078319	179078319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacccatcagcatgctgtaGagaagcaacagatgagaagt	16	6	11	8	0	1	3	1	1	0	3	1	6	1	3	1	0	5	4	1	0	5	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:179078319G>T	ENST00000502732.1	-	12	2286	c.2083C>A	c.(2083-2085)Cta>Ata	p.L695I	ABL2_ENST00000504405.1_Intron|ABL2_ENST00000408940.3_Missense_Mutation_p.L659I|ABL2_ENST00000512653.1_Missense_Mutation_p.L680I|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.L674I|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000507173.1_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	695	F-actin-binding. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GCATGCTGTAGAGAAGCAACA	0.532			T	ETV6	AML																																			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0													140	145	144					1																	179078319		2203	4300	6503	SO:0001583	missense	0			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2083C>A	1.37:g.179078319G>T	ENSP00000427562:p.Leu695Ile		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.L695I	ENST00000502732.1	37	c.2083	CCDS30947.1	1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720517	0.30503	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000512653;ENST00000367623	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.7	3.8	0.43715	.	0.000000	0.34435	U	0.003979	T	0.17238	0.0414	L	0.50333	1.59	0.45662	D	0.998588	B;B;B;B	0.22146	0.065;0.039;0.065;0.015	B;B;B;B	0.27170	0.077;0.035;0.048;0.015	T	0.08700	-1.0709	10	0.31617	T	0.26	.	4.0811	0.09927	0.2071:0.2082:0.5847:0.0	.	674;695;680;659	P42684-6;P42684;P42684-3;D1MPS6	.;ABL2_HUMAN;.;.	I	695;659;680;674	ENSP00000427562:L695I;ENSP00000386152:L659I;ENSP00000423578:L680I;ENSP00000356595:L674I	ENSP00000356595:L674I	L	-	1	2	ABL2	177344942	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.593000	0.36686	1.386000	0.46466	0.591000	0.81541	CTA	ABL2	-	NULL	ENSG00000143322		0.532	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABL2	HGNC	protein_coding	OTTHUMT00000085174.3	-	0	70	0	G	NM_005158		179078319	-1	tier1	-	no_errors	ENST00000502732	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	T	T	179078319	G	T	179078319	3	4	148	1	0	0	0	0	1	0	0	0	93	933	33	3	1469	3	ABL2	1	179078319	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	7771784	179078319	70172302	12	37667											
HMCN1	83872	genome.wustl.edu	37	chr1	186158649	186158649	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gtttgttgtccttaggttctGcctcaagaactgtccaccca	7	14	8	12	0	2	1	1	0	1	1	4	1	4	1	4	1	2	3	4	1	3	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:186158649G>T	ENST00000271588.4	+	107	16776	c.16547G>T	c.(16546-16548)tGc>tTc	p.C5516F	HMCN1_ENST00000367492.2_Missense_Mutation_p.C5399F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5516					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						CTTAGGTTCTGCCTCAAGAAC	0.428																																																	0													95	87	90					1																	186158649		2176	4266	6442	SO:0001583	missense	0			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.16547G>T	1.37:g.186158649G>T	ENSP00000271588:p.Cys5516Phe		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.C5516F	ENST00000271588.4	37	c.16547	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581139	0.86748	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.99914	-7.98;-7.98;-7.98	5.75	5.75	0.90469	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.99926	0.9966	M	0.86178	2.8	0.52501	D	0.99995	D	0.76494	0.999	D	0.85130	0.997	D	0.96179	0.9129	10	0.66056	D	0.02	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	5516	Q96RW7	HMCN1_HUMAN	F	5516;5399;191	ENSP00000271588:C5516F;ENSP00000356462:C5399F;ENSP00000406205:C191F	ENSP00000271588:C5516F	C	+	2	0	HMCN1	184425272	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.765000	0.98953	2.716000	0.92895	0.655000	0.94253	TGC	HMCN1	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000143341		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	67	0	G	NM_031935		186158649	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	186158649	G	T	186158649	3	4	148	1	0	0	0	0	1	0	0	0	7247	1319	46	3	16973	3	HMCN1	1	186158649	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	7080330	186158649	63091972	13	37668											
DSTYK	25778	genome.wustl.edu	37	chr1	205156711	205156711	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagggagcgccaggctGacccgagtctgagtcccata	8	7	13	13	2	1	2	0	2	1	0	3	4	3	3	4	2	1	1	4	2	1	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:205156711G>T	ENST00000367162.3	-	2	519	c.489C>A	c.(487-489)gtC>gtA	p.V163V	DSTYK_ENST00000367160.4_Silent_p.V163V|DSTYK_ENST00000367161.3_Silent_p.V163V	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	163					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GCGCCAGGCTGACCCGAGTCT	0.602																																																	0													63	53	56					1																	205156711		2203	4300	6503	SO:0001819	synonymous_variant	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.489C>A	1.37:g.205156711G>T			B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V163	ENST00000367162.3	37	c.489	CCDS1451.1	1																																																																																			DSTYK	-	NULL	ENSG00000133059		0.602	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1		0	46	0	G	NM_015375		205156711	-1			no_errors	ENST00000367162	ensembl	human	known	74_37	silent	6.90	27	2	SNP	1.000	T	T	205156711	G	T	205156711	2	4	148	1	0	0	0	0	0	0	0	1	4799	1277	45	3		3	DSTYK	1	205156711	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	18998062	205156711	44093910	14	37669											
PROX1	5629	genome.wustl.edu	37	chr1	214171008	214171008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcggccaagccctcccGccaggttcctcaggtcttcc	4	11	8	18	2	2	0	1	0	1	0	6	0	5	0	6	3	1	1	6	3	1	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:214171008G>A	ENST00000366958.4	+	2	1738	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	PROX1_ENST00000435016.1_Missense_Mutation_p.R377H|PROX1_ENST00000498508.2_Missense_Mutation_p.R377H|PROX1_ENST00000261454.4_Missense_Mutation_p.R377H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	377					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)		AAGCCCTCCCGCCAGGTTCCT	0.547																																																	0													99	99	99					1																	214171008		2203	4300	6503	SO:0001583	missense	0			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.1130G>A	1.37:g.214171008G>A	ENSP00000355925:p.Arg377His		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.R377H	ENST00000366958.4	37	c.1130	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711771	0.68730	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.47177	0.86;0.85;0.86;0.86	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	P	0.58577	0.841	T	0.60120	-0.7325	10	0.36615	T	0.2	-3.8807	19.3843	0.94550	0.0:0.0:1.0:0.0	.	377	Q92786	PROX1_HUMAN	H	377	ENSP00000420283:R377H;ENSP00000355925:R377H;ENSP00000400694:R377H;ENSP00000261454:R377H	ENSP00000261454:R377H	R	+	2	0	PROX1	212237631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.912000	0.87465	2.574000	0.86865	0.563000	0.77884	CGC	PROX1	-	pfam_Homeo_prospero_dom	ENSG00000117707		0.547	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	-	0	53	0	G	NM_002763		214171008	1	tier1	-	no_errors	ENST00000261454	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	A	A	214171008	G	A	214171008	3	1	148	1	0	0	0	0	1	0	0	0	12602	1087	38	1	1132	1	PROX1	1	214171008	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	9014297	214171008	35079613	15	37670											
RYR2	6262	genome.wustl.edu	37	chr1	237801690	237801690	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctggttgtggactgcaaAgttgccagatgctggtgtct	6	13	15	7	0	1	1	0	0	1	1	1	2	1	2	1	4	3	5	1	4	1	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:237801690A>C	ENST00000366574.2	+	45	7143	c.6826A>C	c.(6826-6828)Agt>Cgt	p.S2276R	RYR2_ENST00000542537.1_Missense_Mutation_p.S2260R|RYR2_ENST00000360064.6_Missense_Mutation_p.S2274R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2276	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGACTGCAAAGTTGCCAGAT	0.418																																																	0													259	252	254					1																	237801690		1920	4135	6055	SO:0001583	missense	0			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.6826A>C	1.37:g.237801690A>C	ENSP00000355533:p.Ser2276Arg		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S2274R	ENST00000366574.2	37	c.6820	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.640740	0.87859	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95690	-3.78;-3.78;-3.78	5.31	5.31	0.75309	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.97161	0.9072	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97802	1.0245	10	0.72032	D	0.01	-11.7159	15.5642	0.76277	1.0:0.0:0.0:0.0	.	2276	Q92736	RYR2_HUMAN	R	2276;2274;2260	ENSP00000355533:S2276R;ENSP00000353174:S2274R;ENSP00000443798:S2260R	ENSP00000353174:S2274R	S	+	1	0	RYR2	235868313	1.000000	0.71417	0.621000	0.29145	0.780000	0.44128	9.287000	0.95975	2.123000	0.65237	0.459000	0.35465	AGT	RYR2	-	pfam_Ca-rel_channel	ENSG00000198626		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	85	0	A	NM_001035		237801690	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	22.50	62	18	SNP	1.000	C	C	237801690	A	C	237801690	3	2	148	1	0	0	0	0	1	0	0	0	13814	72	3	4	7004	4	RYR2	1	237801690	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	23630682	237801690	11448931	16	37671											
ZNF695	57116	genome.wustl.edu	37	chr1	247151543	247151543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcaaaatgtcttcagtaaGataagaagacaaaactggaa	19	8	9	5	0	2	3	1	0	1	3	2	4	2	4	0	2	1	2	0	2	8	3	rs575633182		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:247151543G>A	ENST00000339986.7	-	4	421	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	ZNF695_ENST00000498046.2_5'UTR|ZNF695_ENST00000487338.2_Missense_Mutation_p.L92F	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	92					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)			TCTTCAGTAAGATAAGAAGAC	0.323													G|||	1	0.000199681	0	0	5008	,	,		19556	0		0.001	False		,,,				2504	0																0													58	55	56					1																	247151543		1816	4083	5899	SO:0001583	missense	0				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.274C>T	1.37:g.247151543G>A	ENSP00000341236:p.Leu92Phe		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L92F	ENST00000339986.7	37	c.274	CCDS44344.1	1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.705377	0.00719	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.06142	5.84;3.34	0.459	-0.655	0.11439	.	.	.	.	.	T	0.01254	0.0041	N	0.00504	-1.425	0.09310	N	1	B;B;P	0.36616	0.004;0.002;0.561	B;B;B	0.35470	0.002;0.001;0.203	T	0.30765	-0.9967	9	0.02654	T	1	.	3.7314	0.08495	0.6475:0.0:0.3525:0.0	.	92;80;92	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	F	92	ENSP00000429736:L92F;ENSP00000341236:L92F	ENSP00000428213:L80F	L	-	1	0	ZNF695	245218166	0.013000	0.17824	0.001000	0.08648	0.580000	0.36256	0.141000	0.16076	-0.384000	0.07845	0.195000	0.17529	CTT	ZNF695	-	NULL	ENSG00000197472		0.323	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5		0	38	0	G	NM_020394		247151543	-1			no_errors	ENST00000339986	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.005	A	A	247151543	G	A	247151543	3	1	148	1	0	0	0	0	1	0	0	0	18146	942	33	3	1277	3	ZNF695	1	247151543	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	9349853	247151543	2099078	17	37672											
OR2L2	26246	genome.wustl.edu	37	chr1	248201860	248201860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctccttcactggatgtggGattcagagtttcttcttctt	6	18	8	9	0	6	1	2	0	4	1	7	3	6	3	1	2	0	1	1	2	0	6			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr1:248201860G>A	ENST00000366479.2	+	1	387	c.291G>A	c.(289-291)ggG>ggA	p.G97G	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	97						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)			ctggatgtgggattcAGAGTT	0.428																																																	0													144	137	139					1																	248201860		2203	4300	6503	SO:0001819	synonymous_variant	0			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.291G>A	1.37:g.248201860G>A			Q2M3T5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G97	ENST00000366479.2	37	c.291	CCDS31103.1	1																																																																																			OR2L2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000203663		0.428	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L2	HGNC	protein_coding	OTTHUMT00000096871.1	-	0	129	0	G	NM_001004686		248201860	1	tier1	-	no_errors	ENST00000366479	ensembl	human	known	74_37	silent	22.48	99	29	SNP	0.000	A	A	248201860	G	A	248201860	2	1	148	1	0	0	0	0	0	0	0	1	11046	1161	41	3		3	OR2L2	1	248201860	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	1050317	248201860	1048761	18	37673											
SLC3A1	6519	genome.wustl.edu	37	chr2	44547468	44547468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	cagccactatgttgtgtacaCaagagagctggatggcatcg	11	9	12	9	1	0	1	0	0	0	1	1	3	0	2	1	2	3	4	1	2	3	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:44547468C>T	ENST00000260649.6	+	10	1824	c.1748C>T	c.(1747-1749)aCa>aTa	p.T583I	PREPL_ENST00000409411.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.T305I|SLC3A1_ENST00000409740.3_Missense_Mutation_p.T214I|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	583					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)	GTTGTGTACACAAGAGAGCTG	0.413																																																	0													131	113	119					2																	44547468		2203	4300	6503	SO:0001583	missense	0				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.1748C>T	2.37:g.44547468C>T	ENSP00000260649:p.Thr583Ile		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	p.T583I	ENST00000260649.6	37	c.1748	CCDS1819.1	2	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553945	0.45487	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.96232	-3.95;-3.95;-3.95	5.99	4.09	0.47781	.	0.508271	0.22398	N	0.060589	D	0.91019	0.7175	L	0.33485	1.01	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	D	0.85316	0.1081	10	0.33141	T	0.24	-5.0688	3.9034	0.09172	0.0:0.5415:0.1851:0.2734	.	583	Q07837	SLC31_HUMAN	I	583;519;305;214	ENSP00000260649:T583I;ENSP00000386709:T305I;ENSP00000386677:T214I	ENSP00000260649:T583I	T	+	2	0	SLC3A1	44400972	0.989000	0.36119	0.989000	0.46669	0.994000	0.84299	2.890000	0.48609	1.529000	0.49120	0.655000	0.94253	ACA	SLC3A1	-	NULL	ENSG00000138079		0.413	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC3A1	HGNC	protein_coding	OTTHUMT00000250676.1	-	0	65	0	C	NM_000341		44547468	1	tier1	-	no_errors	ENST00000260649	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.971	T	T	44547468	C	T	44547468	3	4	148	1	0	0	0	0	1	0	0	0	14671	478	17	3	1786	3	SLC3A1	2	44547468	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09		44547468	198651905	19	37674											
HTRA2	27429	genome.wustl.edu	37	chr2	74758174	74758174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctcagcgtccagccaGagacctgggactcccccaaa	9	6	9	17	1	2	1	1	0	1	1	4	3	4	2	5	1	3	1	5	1	1	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:74758174G>T	ENST00000258080.3	+	3	1478	c.848G>T	c.(847-849)aGa>aTa	p.R283I	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	283	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CGTCCAGCCAGAGACCTGGGA	0.517																																																	0													130	136	134					2																	74758174		2203	4300	6503	SO:0001583	missense	0				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.848G>T	2.37:g.74758174G>T	ENSP00000258080:p.Arg283Ile		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.R283I	ENST00000258080.3	37	c.848	CCDS1951.1	2	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604597	0.66445	.	.	ENSG00000115317	ENST00000258080;ENST00000437202	D;D	0.88277	-2.36;-2.36	4.94	2.11	0.27256	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.295460	0.36665	N	0.002461	D	0.88955	0.6578	L	0.56396	1.775	0.80722	D	1	B;P;P;P	0.48911	0.049;0.845;0.917;0.845	B;P;P;P	0.53988	0.061;0.739;0.622;0.739	D	0.85734	0.1333	10	0.56958	D	0.05	-3.1098	6.5693	0.22529	0.3988:0.0:0.6012:0.0	.	283;283;283;283	O43464-4;A8K7G2;O43464-3;O43464	.;.;.;HTRA2_HUMAN	I	283;270	ENSP00000258080:R283I;ENSP00000399166:R270I	ENSP00000258080:R283I	R	+	2	0	HTRA2	74611682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.257000	0.32932	0.267000	0.21916	0.462000	0.41574	AGA	HTRA2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	ENSG00000115317		0.517	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA2	HGNC	protein_coding	OTTHUMT00000252219.2	-	0	49	0	G	NM_013247		74758174	1	tier1	-	no_errors	ENST00000258080	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.990	T	T	74758174	G	T	74758174	3	4	148	1	0	0	0	0	1	0	0	0	7481	942	33	3	858	3	HTRA2	2	74758174	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	30210706	74758174	168441199	20	37675											
THNSL2	55258	genome.wustl.edu	37	chr2	88482532	88482532	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacagccaggtgacaagagcCctcatggagcagtttgaaag	13	6	13	9	0	1	3	1	2	0	1	1	5	1	4	2	2	3	2	2	2	2	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:88482532C>T	ENST00000324166.5	+	6	2708	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A	THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000377254.3_Silent_p.A339A|THNSL2_ENST00000343544.4_Silent_p.A339A|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000358591.2_Silent_p.A339A|THNSL2_ENST00000402102.1_Silent_p.A339A	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	339					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						TGACAAGAGCCCTCATGGAGC	0.527																																																	0													83	76	79					2																	88482532		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1017C>T	2.37:g.88482532C>T			B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	p.A339	ENST00000324166.5	37	c.1017	CCDS2002.2	2																																																																																			THNSL2	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	ENSG00000144115		0.527	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THNSL2	HGNC	protein_coding	OTTHUMT00000252662.1	-	0	58	0	C	NM_018271		88482532	1	tier1	-	no_errors	ENST00000324166	ensembl	human	known	74_37	silent	14.81	46	8	SNP	0.121	T	T	88482532	C	T	88482532	2	4	148	1	0	0	0	0	0	0	0	1	15910	610	22	3		3	THNSL2	2	88482532	Silent	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	13724358	88482532	154716841	21	37676											
SULT1C3	442038	genome.wustl.edu	37	chr2	108872060	108872060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccagaaatcccaaggattgCctggtgtcctactaccactt	10	10	8	13	0	0	1	0	0	0	1	2	2	2	2	5	2	3	0	5	2	4	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:108872060C>G	ENST00000329106.2	+	4	432	c.432C>G	c.(430-432)tgC>tgG	p.C144W	SULT1C3_ENST00000376700.1_Missense_Mutation_p.C144W	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	144					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCAAGGATTGCCTGGTGTCCT	0.428																																																	0													125	121	122					2																	108872060		2203	4300	6503	SO:0001583	missense	0			BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"Sulfotransferases, cytosolic"	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.432C>G	2.37:g.108872060C>G	ENSP00000333310:p.Cys144Trp		Q6IMI5	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.C144W	ENST00000329106.2	37	c.432	CCDS33267.1	2	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455093	0.43634	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	D;D	0.82344	-1.6;-1.6	3.58	-2.06	0.07298	Sulfotransferase domain (1);	0.308775	0.28376	N	0.015580	D	0.89708	0.6793	M	0.90705	3.14	0.32002	N	0.60322	D	0.69078	0.997	D	0.68353	0.957	D	0.87908	0.2695	10	0.87932	D	0	.	8.9775	0.35944	0.0:0.4068:0.0:0.5932	.	144	Q6IMI6	ST1C3_HUMAN	W	144	ENSP00000333310:C144W;ENSP00000365890:C144W	ENSP00000333310:C144W	C	+	3	2	SULT1C3	108238492	0.000000	0.05858	0.001000	0.08648	0.235000	0.25334	-0.210000	0.09345	-0.660000	0.05352	0.650000	0.86243	TGC	SULT1C3	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000196228		0.428	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT1C3	HGNC	protein_coding	OTTHUMT00000330255.1	-	0	52	0	C	NM_001008743		108872060	1	tier1	-	no_errors	ENST00000329106	ensembl	human	known	74_37	missense	23.81	48	15	SNP	0.403	G	G	108872060	C	G	108872060	3	3	148	1	0	0	0	0	1	0	0	0	15425	747	26	5	446	5	SULT1C3	2	108872060	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	20389528	108872060	134327313	22	37677											
BCL2L11	10018	genome.wustl.edu	37	chr2	111907707	111907707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtattggagacgagtttaacGcttactatgcaaggagggta	12	11	13	5	2	0	1	0	0	0	1	0	4	0	2	0	3	3	5	0	3	6	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:111907707G>T	ENST00000393256.3	+	3	754	c.481G>T	c.(481-483)Gct>Tct	p.A161S	BCL2L11_ENST00000393253.2_Missense_Mutation_p.A71S|BCL2L11_ENST00000357757.2_Missense_Mutation_p.A161S|BCL2L11_ENST00000308659.8_Missense_Mutation_p.A101S	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	161					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|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 release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CGAGTTTAACGCTTACTATGC	0.463																																																	0													164	122	136					2																	111907707		2203	4300	6503	SO:0001583	missense	0			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.481G>T	2.37:g.111907707G>T	ENSP00000376943:p.Ala161Ser		A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Missense_Mutation	SNP	pfam_Bcl-x_interacting_BH3_dom,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11	p.A161S	ENST00000393256.3	37	c.481	CCDS2089.1	2	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718157	0.48622	.	.	ENSG00000153094	ENST00000308659;ENST00000357757;ENST00000393253;ENST00000393256;ENST00000452033	.	.	.	5.89	4.08	0.47627	Bcl-x interacting (1);	0.587171	0.16174	N	0.226132	T	0.25975	0.0633	L	0.27053	0.805	0.21147	N	0.999776	B;B;P	0.35793	0.073;0.089;0.521	B;B;B	0.36134	0.098;0.101;0.218	T	0.13656	-1.0501	9	0.62326	D	0.03	0.112	8.2618	0.31790	0.0832:0.1568:0.76:0.0	.	71;161;101	O43521-3;O43521;O43521-2	.;B2L11_HUMAN;.	S	101;161;71;161;28	.	ENSP00000309226:A101S	A	+	1	0	BCL2L11	111624178	0.653000	0.27358	0.017000	0.16124	0.945000	0.59286	1.918000	0.40006	0.817000	0.34445	0.591000	0.81541	GCT	BCL2L11	-	pfam_Bcl-x_interacting_BH3_dom,pirsf_Bcl-2-like_11	ENSG00000153094		0.463	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L11	HGNC	protein_coding	OTTHUMT00000254022.3	-	0	75	0	G			111907707	1	tier1	-	no_errors	ENST00000393256	ensembl	human	known	74_37	missense	5.68	83	5	SNP	0.063	T	T	111907707	G	T	111907707	3	4	148	1	0	0	0	0	1	0	0	0	1370	1087	38	2	616	2	BCL2L11	2	111907707	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	3035647	111907707	131291666	23	37678											
DPP10	57628	genome.wustl.edu	37	chr2	116447262	116447262	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttcttttttaatttcaGatttttcattattcgtatac	9	24	3	5	1	3	1	2	0	1	1	4	1	3	1	0	0	1	2	0	0	4	11			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:116447262G>T	ENST00000410059.1	+	6	921		c.e6-1		DPP10_ENST00000488208.1_Splice_Site|DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)							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						TTTAATTTCAGATTTTTCATT	0.264																																																	0													70	68	69					2																	116447262		2197	4291	6488	SO:0001630	splice_region_variant	0			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.442-1G>T	2.37:g.116447262G>T			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Splice_Site	SNP	-	e6-1	ENST00000410059.1	37	c.454-1	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920073	0.73098	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2739	0.73726	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP10	116163732	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.767000	0.85331	2.515000	0.84797	0.650000	0.86243	.	DPP10	-	-	ENSG00000175497		0.264	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0	57	0	G	NM_020868	Intron	116447262	1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	splice_site	17.65	56	12	SNP	1.000	T	T	116447262	G	T	116447262	5	4	148	1	0	0	0	0	0	0	1	0	4741	956	33	3	634	3	DPP10	2	116447262	Splice_Site	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	4539555	116447262	126752111	24	37679											
NXPH2	11249	genome.wustl.edu	37	chr2	139428724	139428724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttttttcatactcaatgCgacaattgaaagatttggat	12	16	7	6	1	2	2	2	1	0	1	2	4	2	3	0	1	2	1	0	1	4	6			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:139428724C>T	ENST00000272641.3	-	2	669	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	188	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.R188H(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ATACTCAATGCGACAATTGAA	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)											59	58	59					2																	139428724		1880	4096	5976	SO:0001583	missense	0			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.563G>A	2.37:g.139428724C>T	ENSP00000272641:p.Arg188His		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.R188H	ENST00000272641.3	37	c.563	CCDS46421.1	2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549860	0.45383	.	.	ENSG00000144227	ENST00000272641	.	.	.	5.66	4.78	0.61160	.	0.048936	0.85682	N	0.000000	T	0.60457	0.2270	M	0.64170	1.965	0.58432	D	0.999991	B	0.28801	0.223	B	0.32149	0.141	T	0.57985	-0.7716	8	.	.	.	-8.6021	13.9695	0.64230	0.0:0.9264:0.0:0.0736	.	188	O95156	NXPH2_HUMAN	H	188	.	.	R	-	2	0	NXPH2	139145194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.903000	0.63272	1.507000	0.48752	0.655000	0.94253	CGC	NXPH2	-	pfam_NXPH/NXPE,pirsf_Neurexophilin	ENSG00000144227		0.478	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH2	HGNC	protein_coding	OTTHUMT00000331901.1		0	40	0	C			139428724	-1			no_errors	ENST00000272641	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	139428724	C	T	139428724	3	4	148	1	0	0	0	0	1	0	0	0	10830	768	27	1	235	1	NXPH2	2	139428724	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	22981462	139428724	103770649	25	37680											
SCN3A	6328	genome.wustl.edu	37	chr2	166019203	166019203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgggggccactgcaaaCatttattcctcagattgccc	8	11	9	13	1	1	1	1	0	0	1	2	1	2	1	3	2	3	2	3	2	2	5	rs370566356		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:166019203C>A	ENST00000360093.3	-	8	1321	c.830G>T	c.(829-831)tGt>tTt	p.C277F	SCN3A_ENST00000283254.7_Missense_Mutation_p.C277F|SCN3A_ENST00000409101.3_Missense_Mutation_p.C277F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	277					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)	CCACTGCAAACATTTATTCCT	0.433																																																	0													111	107	109					2																	166019203		2203	4300	6503	SO:0001583	missense	0			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.830G>T	2.37:g.166019203C>A	ENSP00000353206:p.Cys277Phe		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.C277F	ENST00000360093.3	37	c.830		2	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105281	0.56291	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	5.82	5.82	0.92795	Ion transport (1);	0.196957	0.37261	N	0.002175	D	0.99648	0.9870	H	0.99732	4.735	0.80722	D	1	D;P;P;P;D	0.76494	0.997;0.811;0.766;0.875;0.999	D;P;P;P;D	0.83275	0.996;0.786;0.73;0.877;0.996	D	0.97301	0.9931	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	277;277;277;277;277	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	F	277	ENSP00000353206:C277F;ENSP00000283254:C277F;ENSP00000386726:C277F;ENSP00000403348:C277F	ENSP00000283254:C277F	C	-	2	0	SCN3A	165727449	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.818000	0.86416	2.752000	0.94435	0.655000	0.94253	TGT	SCN3A	-	pfam_Ion_trans_dom	ENSG00000153253		0.433	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		-	0	78	0	C	NM_006922		166019203	-1	tier1	-	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	A	A	166019203	C	A	166019203	3	1	148	1	0	0	0	0	1	0	0	0	13963	478	17	3	5256	3	SCN3A	2	166019203	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	26590479	166019203	77180170	26	37681											
OSBPL6	114880	genome.wustl.edu	37	chr2	179197705	179197705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagatgctagttttcacatAtttccttcaacgtccacagc	11	13	6	11	1	2	1	2	0	0	1	4	2	4	1	2	0	3	2	2	0	3	6	rs372381868		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:179197705A>G	ENST00000190611.4	+	8	970	c.594A>G	c.(592-594)atA>atG	p.I198M	OSBPL6_ENST00000315022.2_Missense_Mutation_p.I177M|OSBPL6_ENST00000357080.4_Missense_Mutation_p.I198M|OSBPL6_ENST00000392505.2_Missense_Mutation_p.I198M|OSBPL6_ENST00000359685.3_Missense_Mutation_p.I198M|OSBPL6_ENST00000409631.1_Missense_Mutation_p.I198M|OSBPL6_ENST00000409045.3_Missense_Mutation_p.I198M	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	198					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTTTTCACATATTTCCTTCAA	0.423																																																	0								A	MET/ILE,MET/ILE,MET/ILE,MET/ILE,MET/ILE	0,4406		0,0,2203	123	109	114		531,594,594,594,594	3	1	2		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	OSBPL6	NM_145739.2,NM_032523.3,NM_001201482.1,NM_001201481.1,NM_001201480.1	10,10,10,10,10	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	177/939,198/935,198/899,198/904,198/960	179197705	1,13005	2203	4300	6503	SO:0001583	missense	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.594A>G	2.37:g.179197705A>G	ENSP00000190611:p.Ile198Met		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I177M	ENST00000190611.4	37	c.531	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198639	0.38806	0.0	1.16E-4	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.12361	2.71;2.72;2.69;2.7;2.72;2.72;2.71	5.57	2.99	0.34606	.	0.138754	0.64402	D	0.000003	T	0.04588	0.0125	N	0.02011	-0.69	0.38005	D	0.934358	B;B;B;B;B;B	0.23128	0.006;0.08;0.002;0.045;0.008;0.053	B;B;B;B;B;B	0.20767	0.015;0.031;0.006;0.028;0.008;0.013	T	0.33854	-0.9852	10	0.33141	T	0.24	-17.1364	7.0537	0.25087	0.6433:0.2854:0.0714:0.0	.	198;177;198;198;198;198	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	M	198;198;198;198;198;198;177	ENSP00000376293:I198M;ENSP00000352713:I198M;ENSP00000349591:I198M;ENSP00000387248:I198M;ENSP00000190611:I198M;ENSP00000386885:I198M;ENSP00000318723:I177M	ENSP00000190611:I198M	I	+	3	3	OSBPL6	178905951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.680000	0.25306	1.022000	0.39626	0.533000	0.62120	ATA	OSBPL6	-	NULL	ENSG00000079156		0.423	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	-	0	62	0	A	NM_032523		179197705	1	tier1	-	no_errors	ENST00000315022	ensembl	human	known	74_37	missense	22.64	41	12	SNP	1.000	G	G	179197705	A	G	179197705	3	3	148	1	0	0	0	0	1	0	0	0	11320	439	16	4	659	4	OSBPL6	2	179197705	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	13178502	179197705	64001668	27	37682											
SDPR	8436	genome.wustl.edu	37	chr2	192711216	192711216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcggaggagctgggcgtGgttgttctccagccgcttca	4	10	16	11	4	2	0	1	0	1	0	4	2	2	2	2	4	2	4	2	4	0	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:192711216G>T	ENST00000304141.4	-	1	765	c.436C>A	c.(436-438)Cac>Aac	p.H146N	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			AGCTGGGCGTGGTTGTTCTCC	0.587																																																	0													53	44	47					2																	192711216		2203	4300	6503	SO:0001583	missense	0			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.436C>A	2.37:g.192711216G>T	ENSP00000305675:p.His146Asn			Missense_Mutation	SNP	NULL	p.H146N	ENST00000304141.4	37	c.436	CCDS2313.1	2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634327	0.87660	.	.	ENSG00000168497	ENST00000304141	T	0.60171	0.21	4.62	4.62	0.57501	.	0.057961	0.64402	D	0.000002	T	0.76421	0.3985	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79631	-0.1723	10	0.72032	D	0.01	-30.4964	18.0107	0.89222	0.0:0.0:1.0:0.0	.	146	O95810	SDPR_HUMAN	N	146	ENSP00000305675:H146N	ENSP00000305675:H146N	H	-	1	0	SDPR	192419461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.635000	0.61332	2.564000	0.86499	0.484000	0.47621	CAC	SDPR	-	NULL	ENSG00000168497		0.587	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	-	0	32	0	G	NM_004657		192711216	-1	tier1	-	no_errors	ENST00000304141	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	192711216	G	T	192711216	3	4	148	1	0	0	0	0	1	0	0	0	14015	1348	47	3	849	3	SDPR	2	192711216	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	13513511	192711216	50488157	28	37683											
ALS2CR8	79800	genome.wustl.edu	37	chr2	203831815	203831815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctacaaagccacttgtcCagctcggtaagctttatttt	9	14	7	11	1	1	0	0	0	1	0	3	0	2	0	2	1	4	4	2	1	4	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:203831815C>T	ENST00000402905.3	+	9	1268	c.947C>T	c.(946-948)cCa>cTa	p.P316L	CARF_ENST00000428585.1_Missense_Mutation_p.P240L|CARF_ENST00000320443.8_Missense_Mutation_p.P316L|CARF_ENST00000438828.2_Missense_Mutation_p.P316L|CARF_ENST00000545262.1_Missense_Mutation_p.P240L|CARF_ENST00000456821.2_3'UTR|CARF_ENST00000545253.1_Missense_Mutation_p.P228L|WDR12_ENST00000477723.1_Intron|CARF_ENST00000414439.1_Missense_Mutation_p.P214L	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	316					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)										GCCACTTGTCCAGCTCGGTAA	0.338																																																	0													157	156	156					2																	203831815		1831	4095	5926	SO:0001583	missense	0			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.947C>T	2.37:g.203831815C>T	ENSP00000384006:p.Pro316Leu		B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	NULL	p.P316L	ENST00000402905.3	37	c.947	CCDS42801.1	2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961167	0.92791	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.70016	0.967;0.944;0.944	T	0.74127	-0.3765	9	0.87932	D	0	-13.6208	19.3813	0.94536	0.0:1.0:0.0:0.0	.	228;240;316	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	L	316;214;240;228;240;316;316	.	ENSP00000316224:P316L	P	+	2	0	ALS2CR8	203540060	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.017000	0.70805	2.824000	0.97209	0.655000	0.94253	CCA	CARF	-	NULL	ENSG00000138380		0.338	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARF	HGNC	protein_coding	OTTHUMT00000335768.5	-	0	53	0	C	NM_001104586		203831815	1	tier1	-	no_errors	ENST00000320443	ensembl	human	known	74_37	missense	15.52	49	9	SNP	1.000	T	T	203831815	C	T	203831815	3	4	148	1	0	0	0	0	1	0	0	0	555	594	21	3	973	3	ALS2CR8	2	203831815	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	11120599	203831815	39367558	29	37684											
NRP2	8828	genome.wustl.edu	37	chr2	206659485	206659485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtatcgcagatgaataCgaggtggactggagcaattc	12	11	12	6	2	0	2	0	1	0	1	2	5	0	4	0	3	2	3	0	3	5	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:206659485C>T	ENST00000357785.5	+	17	2515	c.2484C>T	c.(2482-2484)taC>taT	p.Y828Y	NRP2_ENST00000412873.2_Silent_p.Y811Y|NRP2_ENST00000540178.1_Silent_p.Y828Y|NRP2_ENST00000360409.3_Silent_p.Y833Y|NRP2_ENST00000540841.1_Silent_p.Y811Y			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAGATGAATACGAGGTGGACT	0.537																																																	0													80	78	79					2																	206659485		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2484C>T	2.37:g.206659485C>T			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.Y833	ENST00000357785.5	37	c.2499	CCDS46496.1	2																																																																																			NRP2	-	pirsf_Neuropilin	ENSG00000118257		0.537	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1	-	0	50	0	C			206659485	1	tier1	-	no_errors	ENST00000360409	ensembl	human	known	74_37	silent	21.43	33	9	SNP	0.134	T	T	206659485	C	T	206659485	2	4	148	1	0	0	0	0	0	0	0	1	10700	547	19	1		1	NRP2	2	206659485	Silent	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	2827670	206659485	36539888	30	37685											
PTPRN	5798	genome.wustl.edu	37	chr2	220173953	220173953	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaccgtgggcactaacGgcgctgcagccccccgggcg	5	5	14	17	5	0	1	0	1	0	0	1	1	1	1	5	3	3	3	5	3	1	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:220173953G>A	ENST00000295718.2	-	1	342	c.102C>T	c.(100-102)gcC>gcT	p.A34A	PTPRN_ENST00000409251.3_Silent_p.A34A|PTPRN_ENST00000423636.2_5'Flank	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	34					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)		GGGCACTAACGGCGCTGCAGC	0.736																																																	0													3	4	4					2																	220173953		1931	3897	5828	SO:0001819	synonymous_variant	0				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.102C>T	2.37:g.220173953G>A			B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A34	ENST00000295718.2	37	c.102	CCDS2440.1	2																																																																																			PTPRN	-	NULL	ENSG00000054356		0.736	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	-	0	58	0	G			220173953	-1	tier1	-	no_errors	ENST00000295718	ensembl	human	known	74_37	silent	23.73	45	14	SNP	1.000	A	A	220173953	G	A	220173953	2	1	148	1	0	0	0	0	0	0	0	1	12852	1103	39	1		1	PTPRN	2	220173953	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	13514468	220173953	23025420	31	37686											
SPHKAP	80309	genome.wustl.edu	37	chr2	228858303	228858303	+	Silent	SNP	G	G	A	0	0	1	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	taaatgtccagatccataatGccaagactgctagtggcact	13	10	8	10	0	0	2	0	0	0	2	2	2	2	2	3	1	2	2	3	1	5	3	rs528902743		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:228858303G>A	ENST00000392056.3	-	9	4714	c.4668C>T	c.(4666-4668)ggC>ggT	p.G1556G	SPHKAP_ENST00000344657.5_Intron	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1556						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)		GATCCATAATGCCAAGACTGC	0.438													G|||	1	0.000199681	0	0	5008	,	,		20045	0		0	False		,,,				2504	0.001																0													104	79	87					2																	228858303		1568	3582	5150	SO:0001819	synonymous_variant	0				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.4668C>T	2.37:g.228858303G>A			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.G1556	ENST00000392056.3	37	c.4668	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.438	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0	60	0	G	NM_030623		228858303	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	silent	9.62	47	5	SNP	1.000	A	A	228858303	G	A	228858303	2	1	148	1	0	0	0	0	0	0	0	1	15095	1306	46	3		3	SPHKAP	2	228858303	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	8684350	228858303	14341070	32	37687											
HDAC4	9759	genome.wustl.edu	37	chr2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcaagggagccggacGaacacggaggcgagcgagcc	11	0	16	14	6	0	0	0	0	0	0	0	6	0	3	4	4	4	1	4	4	2	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L|HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGCCGGACGAACACGGAGG	0.612																																																	0													77	85	82					2																	240016733		2203	4300	6503	SO:0001583	missense	0			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.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F746L	ENST00000345617.3	37	c.2238	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	-	0	180	0	G	NM_006037		240016733	-1	tier1	-	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	5.46	172	10	SNP	0.191	T	T	240016733	G	T	240016733	3	4	148	1	0	0	0	0	1	0	0	0	7036	1049	37	2	1060	2	HDAC4	2	240016733	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	11158430	240016733	3182640	33	37688											
THAP4	51078	genome.wustl.edu	37	chr2	242545863	242545863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatccaggacagtggctcCaccactgggttcatcttggg	8	9	12	12	0	2	0	1	0	1	0	4	1	4	1	3	4	1	3	3	4	0	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr2:242545863C>T	ENST00000407315.1	-	3	1697	c.1266G>A	c.(1264-1266)gtG>gtA	p.V422V	THAP4_ENST00000402545.1_Silent_p.V10V|THAP4_ENST00000402136.1_Silent_p.V10V	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	422							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V422V(1)		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)		ACAGTGGCTCCACCACTGGGT	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											30	26	27					2																	242545863		2203	4295	6498	SO:0001819	synonymous_variant	0			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.1266G>A	2.37:g.242545863C>T			Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.V422	ENST00000407315.1	37	c.1266	CCDS2551.1	2																																																																																			THAP4	-	pfam_DUF1794,superfamily_Calycin-like	ENSG00000176946		0.587	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	HGNC	protein_coding	OTTHUMT00000257267.3		0	31	0	C	NM_015963		242545863	-1			no_errors	ENST00000407315	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.978	T	T	242545863	C	T	242545863	2	4	148	1	0	0	0	0	0	0	0	1	15893	581	21	3		3	THAP4	2	242545863	Silent	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	2529130	242545863	653510	34	37689											
CTNNB1	1499	genome.wustl.edu	37	chr3	41277242	41277242	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcatggaagaaatagttGaaggttgtaccggagccctt	11	10	12	8	2	0	2	0	1	0	1	1	4	1	4	3	3	2	4	3	3	5	5			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr3:41277242G>T	ENST00000349496.5	+	11	1991	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.E571*|CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.E571*|CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.E571*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.E564*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	571					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)		AGAAATAGTTGAAGGTTGTAC	0.428		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													134	134	134					3																	41277242		2203	4300	6503	SO:0001587	stop_gained	0	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.1711G>T	3.37:g.41277242G>T	ENSP00000344456:p.Glu571*		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.E571*	ENST00000349496.5	37	c.1711	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	G	43	10.389056	0.99396	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-15.5419	19.661	0.95871	0.0:0.0:1.0:0.0	.	.	.	.	X	571;571;571;564;571	.	ENSP00000344456:E571X	E	+	1	0	CTNNB1	41252246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.659000	0.90383	0.655000	0.94253	GAA	CTNNB1	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000168036		0.428	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2		0	37	0	G	NM_001098210		41277242	1			no_errors	ENST00000349496	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	1.000	T	T	41277242	G	T	41277242	4	4	148	1	0	0	0	0	0	1	0	0	4025	1291	45	3	1749	3	CTNNB1	3	41277242	Nonsense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		41277242	156745188	35	37690											
ULK4	54986	genome.wustl.edu	37	chr3	41795927	41795927	+	Silent	SNP	T	T	C	0	1	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	agaaccaggaaggcttttgcTctaatgcatgttgaggggct	10	11	13	7	0	1	2	0	1	1	1	1	3	1	3	1	4	3	5	1	4	3	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr3:41795927T>C	ENST00000301831.4	-	22	2709	c.2247A>G	c.(2245-2247)agA>agG	p.R749R		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	749					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)		AGGCTTTTGCTCTAATGCATG	0.363																																																	0													97	94	95					3																	41795927		1830	4088	5918	SO:0001819	synonymous_variant	0			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.2247A>G	3.37:g.41795927T>C			A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R749	ENST00000301831.4	37	c.2247	CCDS43071.1	3																																																																																			ULK4	-	superfamily_ARM-type_fold	ENSG00000168038		0.363	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	-	0	61	0	T	XM_929989		41795927	-1	tier1	-	no_errors	ENST00000301831	ensembl	human	known	74_37	silent	24.39	31	10	SNP	1.000	C	C	41795927	T	C	41795927	2	2	148	1	0	0	0	0	0	0	0	1	17027	1548	54	4		4	ULK4	3	41795927	Silent	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09	518685	41795927	156226503	36	37691											
SFMBT1	51460	genome.wustl.edu	37	chr3	52977502	52977502	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcggagaaggagcaactgCtcacaggtagtgataacggt	13	7	14	7	2	1	2	1	1	0	1	1	4	1	3	0	4	5	3	0	4	5	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr3:52977502C>T	ENST00000394752.3	-	4	613	c.231G>A	c.(229-231)gaG>gaA	p.E77E	SFMBT1_ENST00000394750.1_Silent_p.E77E|SFMBT1_ENST00000296295.6_Silent_p.E77E|SFMBT1_ENST00000358080.2_Silent_p.E77E	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	77					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGAGCAACTGCTCACAGGTAG	0.527																																																	0													115	89	98					3																	52977502		2203	4300	6503	SO:0001819	synonymous_variant	0			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.231G>A	3.37:g.52977502C>T			Q402F7|Q96C73|Q9Y4Q9	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.E77	ENST00000394752.3	37	c.231	CCDS2867.1	3																																																																																			SFMBT1	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000163935		0.527	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	-	0	48	0	C	NM_016329		52977502	-1	tier1	-	no_errors	ENST00000358080	ensembl	human	known	74_37	silent	22.81	44	13	SNP	1.000	T	T	52977502	C	T	52977502	2	4	148	1	0	0	0	0	0	0	0	1	14202	796	28	3		3	SFMBT1	3	52977502	Silent	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	11181575	52977502	145044928	37	37692											
CNTN3	5067	genome.wustl.edu	37	chr3	74349082	74349082	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacttcagaaggaggcacTtctggaactatacaggtcag	12	10	11	8	0	3	2	2	1	1	1	3	4	3	4	0	4	2	1	0	4	4	5			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr3:74349082T>G	ENST00000263665.6	-	16	2130	c.2103A>C	c.(2101-2103)gaA>gaC	p.E701D		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	701					cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.E701D(1)		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)		AAGGAGGCACTTCTGGAACTA	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											85	77	80					3																	74349082		2203	4300	6503	SO:0001583	missense	0			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.2103A>C	3.37:g.74349082T>G	ENSP00000263665:p.Glu701Asp		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E701D	ENST00000263665.6	37	c.2103	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562107	0.45590	.	.	ENSG00000113805	ENST00000263665	T	0.52295	0.67	5.86	0.678	0.17969	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.048917	0.85682	D	0.000000	T	0.17492	0.0420	N	0.03194	-0.395	0.30596	N	0.761044	B	0.12013	0.005	B	0.17979	0.02	T	0.22103	-1.0226	10	0.10111	T	0.7	.	5.2293	0.15412	0.1186:0.2641:0.0:0.6173	.	701	Q9P232	CNTN3_HUMAN	D	701	ENSP00000263665:E701D	ENSP00000263665:E701D	E	-	3	2	CNTN3	74431772	1.000000	0.71417	0.995000	0.50966	0.953000	0.61014	1.158000	0.31737	-0.095000	0.12351	0.528000	0.53228	GAA	CNTN3	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.388	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0	70	0	T	NM_020872		74349082	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.939	G	G	74349082	T	G	74349082	3	3	148	1	0	0	0	0	1	0	0	0	3649	1606	56	4	1011	4	CNTN3	3	74349082	Missense_Mutation	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09	21371580	74349082	123673348	38	37693											
ROBO1	6091	genome.wustl.edu	37	chr3	78676529	78676529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggacaatcctgtaacatggGctggagttcttcctgtgggg	7	12	14	8	0	1	0	0	0	1	0	3	2	3	2	2	5	1	3	2	5	2	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr3:78676529G>A	ENST00000464233.1	-	26	3930	c.3817C>T	c.(3817-3819)Ccc>Tcc	p.P1273S	ROBO1_ENST00000495273.1_Missense_Mutation_p.P1228S|ROBO1_ENST00000436010.2_Missense_Mutation_p.P1234S|ROBO1_ENST00000467549.1_Missense_Mutation_p.P1173S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1273					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)		TGTAACATGGGCTGGAGTTCT	0.542																																																	0													52	60	58					3																	78676529		2164	4270	6434	SO:0001583	missense	0			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.3817C>T	3.37:g.78676529G>A	ENSP00000420321:p.Pro1273Ser		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P1273S	ENST00000464233.1	37	c.3817	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371548	0.82573	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.62105	0.21;0.19;0.19;0.05	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	L	0.32530	0.975	0.80722	D	1	D;P;D;P;P	0.89917	1.0;0.604;0.999;0.495;0.928	D;B;D;B;P	0.87578	0.998;0.209;0.942;0.095;0.652	T	0.68394	-0.5420	9	.	.	.	.	19.2858	0.94069	0.0:0.0:1.0:0.0	.	1237;1273;1228;1173;1234	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	S	1234;1228;1273;1228;1173;1277	ENSP00000406043:P1234S;ENSP00000420321:P1273S;ENSP00000420637:P1228S;ENSP00000417992:P1173S	.	P	-	1	0	ROBO1	78759219	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	9.809000	0.99208	2.630000	0.89119	0.561000	0.74099	CCC	ROBO1	-	NULL	ENSG00000169855		0.542	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0	46	0	G	NM_002941		78676529	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	A	A	78676529	G	A	78676529	3	1	148	1	0	0	0	0	1	0	0	0	13558	1203	42	3	1162	3	ROBO1	3	78676529	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	4327447	78676529	119345901	39	37694											
OR5AC2	81050	genome.wustl.edu	37	chr3	97806700	97806701	+	Frame_Shift_Ins	INS	-	-	A																															gtgtgctctttgatattctgINSaaaaaaaagtctgaaaaggg																								rs11369970	byFrequency	TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr3:97806700_97806701insA	ENST00000358642.2	+	1	684_685	c.684_685insA	c.(685-687)aaafs	p.K229fs		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	229					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTGATATTCTGAAAAAAAAGTC	0.371														159	0.0317492	0.112	0.0144	5008	,	,		21923	0		0.001	False		,,,				2504	0																0																																										SO:0001589	frameshift_variant	0			AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"GPCR / Class A : Olfactory receptors"	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.692dupA	3.37:g.97806708_97806708dupA	ENSP00000351466:p.Lys229fs			Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S231fs	ENST00000358642.2	37	c.684_685	CCDS33796.1	3																																																																																			OR5AC2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196578		0.371	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AC2	HGNC	protein_coding	OTTHUMT00000359116.1		0	25	0	-			97806701	1	tier1		no_errors	ENST00000358642	ensembl	human	known	74_37	frame_shift_ins	6.67	28	2	INS	0.016:0.046	A	A	97806701	-	A	97806700	7	5	148	1	0	1	1	0	0	0	0	0	11180	1277	45	0	686	0	OR5AC2	3	97806700	Frame_Shift_Ins	INS	-	TCGA-R6-A8W5-01B-11D-A37C-09	19130171	97806700	100215730	40	37695											
CEP97	79598	genome.wustl.edu	37	chr3	101474334	101474334	+	Silent	SNP	C	C	T	0	0	0	1	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	gcatatcggcctggccagcaCatccagcttgtccaatatct	9	10	8	14	1	1	0	0	0	1	0	4	0	3	0	4	2	2	3	4	2	3	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr3:101474334C>T	ENST00000341893.3	+	7	1541	c.789C>T	c.(787-789)caC>caT	p.H263H	CEP97_ENST00000327230.4_Silent_p.H263H|CEP97_ENST00000494050.1_Silent_p.H263H			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	263					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						CTGGCCAGCACATCCAGCTTG	0.473																																																	0													112	102	106					3																	101474334		2203	4300	6503	SO:0001819	synonymous_variant	0			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.789C>T	3.37:g.101474334C>T			B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.H263	ENST00000341893.3	37	c.789	CCDS2944.1	3																																																																																			CEP97	-	NULL	ENSG00000182504		0.473	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	-	0	62	0	C	NM_024548		101474334	1	tier1	-	no_errors	ENST00000327230	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.844	T	T	101474334	C	T	101474334	2	4	148	1	0	0	0	0	0	0	0	1	3270	477	17	3		3	CEP97	3	101474334	Silent	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	3667634	101474334	96548096	41	37696											
TOPBP1	11073	genome.wustl.edu	37	chr3	133329972	133329972	+	Missense_Mutation	SNP	T	T	C	0	1	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	gtatggaactacttccccatTcatagtcttcttcctagaga	10	14	6	11	0	3	1	1	0	2	1	5	3	5	2	3	1	2	1	3	1	5	8			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr3:133329972T>C	ENST00000260810.5	-	25	4180	c.4049A>G	c.(4048-4050)gAa>gGa	p.E1350G		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1350	BRCT 7. {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						ACTTCCCCATTCATAGTCTTC	0.443								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													136	126	129					3																	133329972		1865	4106	5971	SO:0001583	missense	0			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.4049A>G	3.37:g.133329972T>C	ENSP00000260810:p.Glu1350Gly		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.E1350G	ENST00000260810.5	37	c.4049	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531977	0.85812	.	.	ENSG00000163781	ENST00000260810	T	0.60672	0.17	5.39	5.39	0.77823	BRCT (2);	0.000000	0.85682	D	0.000000	T	0.81517	0.4839	M	0.92169	3.28	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86424	0.1756	10	0.87932	D	0	.	15.4073	0.74890	0.0:0.0:0.0:1.0	.	1350	Q92547	TOPB1_HUMAN	G	1350	ENSP00000260810:E1350G	ENSP00000260810:E1350G	E	-	2	0	TOPBP1	134812662	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	6.825000	0.75293	2.043000	0.60533	0.482000	0.46254	GAA	TOPBP1	-	superfamily_BRCT_dom,pfscan_BRCT_dom	ENSG00000163781		0.443	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	-	0	44	0	T	NM_007027		133329972	-1	tier1	-	no_errors	ENST00000260810	ensembl	human	known	74_37	missense	11.29	55	7	SNP	1.000	C	C	133329972	T	C	133329972	3	2	148	1	0	0	0	0	1	0	0	0	16417	1783	62	4	535	4	TOPBP1	3	133329972	Missense_Mutation	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09	31855638	133329972	64692458	42	37697											
GRK7	131890	genome.wustl.edu	37	chr3	141497562	141497562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggaagagcgagtggctGcagtgacgctggccaaggct	9	6	17	9	2	0	3	0	2	0	1	0	5	0	4	1	4	2	4	1	4	2	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr3:141497562G>T	ENST00000264952.2	+	1	573	c.436G>T	c.(436-438)Gca>Tca	p.A146S		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	146	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCGAGTGGCTGCAGTGACGCT	0.607																																																	0													43	44	44					3																	141497562		2203	4300	6503	SO:0001583	missense	0				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.436G>T	3.37:g.141497562G>T	ENSP00000264952:p.Ala146Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.A146S	ENST00000264952.2	37	c.436	CCDS3120.1	3	.	.	.	.	.	.	.	.	.	.	G	0.104	-1.148028	0.01714	.	.	ENSG00000114124	ENST00000264952	T	0.01981	4.52	4.79	-6.02	0.02192	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.610854	0.16666	N	0.204563	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.24317	0.101	B	0.25506	0.061	T	0.43147	-0.9409	10	0.72032	D	0.01	0.0631	5.1323	0.14917	0.1974:0.2133:0.4637:0.1256	.	146	Q8WTQ7	GRK7_HUMAN	S	146	ENSP00000264952:A146S	ENSP00000264952:A146S	A	+	1	0	GRK7	142980252	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.207000	0.03008	-0.923000	0.03785	-0.253000	0.11424	GCA	GRK7	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000114124		0.607	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1	-	0	68	0	G	NM_139209		141497562	1	tier1	-	no_errors	ENST00000264952	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	T	T	141497562	G	T	141497562	3	4	148	1	0	0	0	0	1	0	0	0	6821	1319	46	3	438	3	GRK7	3	141497562	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	8167590	141497562	56524868	43	37698											
MED12L	116931	genome.wustl.edu	37	chr3	151097977	151097977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaagatgaacaaagggaaGgcctcctaacatctctccag	15	6	9	11	0	1	2	0	1	1	1	4	4	3	3	3	2	2	0	3	2	5	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr3:151097977G>T	ENST00000474524.1	+	30	4488	c.4450G>T	c.(4450-4452)Ggc>Tgc	p.G1484C	MED12L_ENST00000273432.4_Missense_Mutation_p.G1344C|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1484						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)			ACAAAGGGAAGGCCTCCTAAC	0.368																																																	0													120	119	119					3																	151097977		2203	4300	6503	SO:0001583	missense	0			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.4450G>T	3.37:g.151097977G>T	ENSP00000417235:p.Gly1484Cys		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.G1484C	ENST00000474524.1	37	c.4450	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548649	0.86127	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.27402	1.67;1.67	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	L	0.60845	1.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.98;0.97	T	0.53802	-0.8387	10	0.87932	D	0	-20.9801	19.874	0.96863	0.0:0.0:1.0:0.0	.	1344;1483;1484	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	C	1484;1344	ENSP00000417235:G1484C;ENSP00000273432:G1344C	ENSP00000273432:G1344C	G	+	1	0	MED12L	152580667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.650000	0.83521	2.788000	0.95919	0.650000	0.86243	GGC	MED12L	-	NULL	ENSG00000144893		0.368	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0	46	0	G	NM_053002		151097977	1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	151097977	G	T	151097977	3	4	148	1	0	0	0	0	1	0	0	0	9467	1000	35	3	4568	3	MED12L	3	151097977	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	9600415	151097977	46924453	44	37699											
ECE2	9718	genome.wustl.edu	37	chr3	183967586	183967586	+	Missense_Mutation	SNP	A	A	C	1	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	gcgctaccaaggcgcagccgAttctgccccctacgattggt	7	8	11	15	4	1	0	0	0	1	0	1	2	1	0	4	2	4	2	4	2	3	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr3:183967586A>C	ENST00000402825.3	+	1	104	c.104A>C	c.(103-105)gAt>gCt	p.D35A	ALG3_ENST00000455059.1_5'Flank|ALG3_ENST00000418734.2_5'Flank|ALG3_ENST00000397676.3_5'Flank|ALG3_ENST00000445626.2_5'Flank|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Missense_Mutation_p.D35A	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	35	Methyltransferase-like 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)			GGCGCAGCCGATTCTGCCCCC	0.647											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56	55	55					3																	183967586		2203	4300	6503	SO:0001583	missense	0			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.104A>C	3.37:g.183967586A>C	ENSP00000384223:p.Asp35Ala	1988	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.D35A	ENST00000402825.3	37	c.104	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	A	11.71	1.721044	0.30503	.	.	ENSG00000145194	ENST00000324557;ENST00000402825	T;T	0.63744	-0.06;-0.06	5.57	4.41	0.53225	.	.	.	.	.	T	0.45115	0.1326	L	0.52364	1.645	0.51233	D	0.999915	B;P	0.41929	0.031;0.765	B;B	0.27887	0.009;0.084	T	0.46978	-0.9152	9	0.36615	T	0.2	-16.2783	6.4293	0.21788	0.8278:0.0:0.1722:0.0	.	35;35	O60344;O60344-4	ECE2_HUMAN;.	A	35	ENSP00000314295:D35A;ENSP00000384223:D35A	ENSP00000314295:D35A	D	+	2	0	ECE2	185450280	0.109000	0.22037	0.892000	0.35008	0.820000	0.46376	1.763000	0.38461	2.244000	0.73946	0.482000	0.46254	GAT	ECE2	-	NULL	ENSG00000145194		0.647	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	-	0	95	0	A	NM_014693		183967586	1	tier1	-	no_errors	ENST00000402825	ensembl	human	known	74_37	missense	39.74	47	31	SNP	0.413	C	C	183967586	A	C	183967586	3	2	148	1	0	0	0	0	1	0	0	0	4904	333	12	4	106	4	ECE2	3	183967586	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	32869609	183967586	14054844	45	37700											
ECE2	9718	genome.wustl.edu	37	chr3	184007255	184007255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcagcgaaatccggaccGcatttgaggaggccctggga	10	7	14	10	3	1	2	1	2	0	0	2	6	2	5	3	4	1	1	3	4	1	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr3:184007255G>A	ENST00000402825.3	+	12	1759	c.1759G>A	c.(1759-1761)Gca>Aca	p.A587T	ECE2_ENST00000359140.4_Missense_Mutation_p.A440T|ECE2_ENST00000404464.3_Missense_Mutation_p.A469T|ECE2_ENST00000357474.5_Missense_Mutation_p.A515T|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	587	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)			AATCCGGACCGCATTTGAGGA	0.607											OREG0015946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													49	44	46					3																	184007255		2203	4300	6503	SO:0001583	missense	0			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.1759G>A	3.37:g.184007255G>A	ENSP00000384223:p.Ala587Thr	1988	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.A587T	ENST00000402825.3	37	c.1759	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	33	5.214386	0.95104	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.03	5.03	0.67393	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.929;1.0;1.0;1.0	D	0.90190	0.4249	10	0.72032	D	0.01	-19.2359	15.2198	0.73303	0.0:0.0:1.0:0.0	.	189;440;458;469;515;440;587	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	T	587;440;469;515;461	ENSP00000384223:A587T;ENSP00000352052:A440T;ENSP00000385846:A469T;ENSP00000350066:A515T;ENSP00000398444:A461T	ENSP00000350066:A515T	A	+	1	0	ECE2	185489949	1.000000	0.71417	0.946000	0.38457	0.906000	0.53458	7.450000	0.80656	2.631000	0.89168	0.549000	0.68633	GCA	ECE2	-	pfam_Peptidase_M13_N	ENSG00000145194		0.607	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	-	0	71	0	G	NM_014693		184007255	1	tier1	-	no_errors	ENST00000402825	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	184007255	G	A	184007255	3	1	148	1	0	0	0	0	1	0	0	0	4904	1087	38	1	2369	1	ECE2	3	184007255	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	39669	184007255	14015175	46	37701											
GABRG1	2565	genome.wustl.edu	37	chr4	46099235	46099235	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacctcctatatctggacgaAgtttattgtcatagccttga	10	15	7	9	1	2	1	1	1	1	0	3	3	3	2	3	1	2	1	3	1	6	8			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr4:46099235A>C	ENST00000295452.4	-	2	403	c.236T>G	c.(235-237)cTt>cGt	p.L79R		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	79					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)	ATCTGGACGAAGTTTATTGTC	0.348																																																	0													148	144	146					4																	46099235		2203	4299	6502	SO:0001583	missense	0			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.236T>G	4.37:g.46099235A>C	ENSP00000295452:p.Leu79Arg		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L79R	ENST00000295452.4	37	c.236	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999735	0.74818	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.79454	-1.27	4.83	4.83	0.62350	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.89234	0.6657	M	0.88241	2.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91268	0.5042	10	0.87932	D	0	.	13.7529	0.62919	1.0:0.0:0.0:0.0	.	79	Q8N1C3	GBRG1_HUMAN	R	79	ENSP00000295452:L79R	ENSP00000295452:L79R	L	-	2	0	GABRG1	45793992	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.732000	0.91534	2.032000	0.59987	0.533000	0.62120	CTT	GABRG1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,tigrfam_Neur_channel	ENSG00000163285		0.348	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	-	0	61	0	A	NM_173536		46099235	-1	tier1	-	no_errors	ENST00000295452	ensembl	human	known	74_37	missense	10.96	65	8	SNP	1.000	C	C	46099235	A	C	46099235	3	2	148	1	0	0	0	0	1	0	0	0	6195	72	3	4	1193	4	GABRG1	4	46099235	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09		46099235	145055041	47	37702											
TECRL	253017	genome.wustl.edu	37	chr4	65175643	65175643	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtatacaatgacagaagcaAgccaagctggaaaaaaaaat	21	6	8	6	0	0	2	0	1	0	1	0	3	0	3	1	1	4	3	1	1	10	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr4:65175643A>C	ENST00000381210.3	-	6	668	c.558T>G	c.(556-558)gcT>gcG	p.A186A	TECRL_ENST00000507440.1_Silent_p.A186A|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	186					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GACAGAAGCAAGCCAAGCTGG	0.323																																																	0													72	77	75					4																	65175643		2203	4299	6502	SO:0001819	synonymous_variant	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.558T>G	4.37:g.65175643A>C				Silent	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.A186	ENST00000381210.3	37	c.558	CCDS33990.1	4																																																																																			TECRL	-	NULL	ENSG00000205678		0.323	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	-	0	56	0	A	NM_001010874		65175643	-1	tier1	-	no_errors	ENST00000381210	ensembl	human	known	74_37	silent	30.77	36	16	SNP	1.000	C	C	65175643	A	C	65175643	2	2	148	1	0	0	0	0	0	0	0	1	15793	59	3	4		4	TECRL	4	65175643	Silent	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	19076408	65175643	125978633	48	37703											
SMR3B	10879	genome.wustl.edu	37	chr4	71255445	71255445	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgctggctcctcctcaaccTtttggcccaggatttgttcc	4	13	8	16	1	1	0	1	0	0	0	4	1	4	1	6	3	1	3	6	3	1	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr4:71255445T>G	ENST00000304915.3	+	3	269	c.120T>G	c.(118-120)ccT>ccG	p.P40P	SMR3B_ENST00000504825.1_Silent_p.P40P	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	40	Pro-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				CTCCTCAACCTTTTGGCCCAG	0.537																																																	0													98	97	97					4																	71255445		2203	4300	6503	SO:0001819	synonymous_variant	0			D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"proline rich 3", "submaxillary gland androgen regulated protein 3 homolog B (mouse)"	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.120T>G	4.37:g.71255445T>G			B7ZMG7|Q9UBN0|Q9UCT0	Silent	SNP	NULL	p.P40	ENST00000304915.3	37	c.120	CCDS3540.1	4																																																																																			SMR3B	-	NULL	ENSG00000171201		0.537	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMR3B	HGNC	protein_coding	OTTHUMT00000251552.2	-	0	120	0	T	NM_006685		71255445	1	tier1	-	no_errors	ENST00000304915	ensembl	human	known	74_37	silent	44.25	63	50	SNP	0.020	G	G	71255445	T	G	71255445	2	3	148	1	0	0	0	0	0	0	0	1	14857	1596	56	4		4	SMR3B	4	71255445	Silent	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09	6079802	71255445	119898831	49	37704											
AFF1	4299	genome.wustl.edu	37	chr4	87968484	87968484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccatgataaagagacccCtcaagacagtttggtggccc	12	8	10	11	0	1	3	1	1	0	2	2	4	2	3	4	2	0	1	4	2	3	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr4:87968484C>T	ENST00000307808.6	+	3	1196	c.776C>T	c.(775-777)cCt>cTt	p.P259L	AFF1_ENST00000395146.4_Missense_Mutation_p.P266L|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	259					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)		AAAGAGACCCCTCAAGACAGT	0.537																																																	0													102	115	111					4																	87968484		2203	4300	6503	SO:0001583	missense	0			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.776C>T	4.37:g.87968484C>T	ENSP00000305689:p.Pro259Leu		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.P266L	ENST00000307808.6	37	c.797	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	4.317	0.058233	0.08339	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.85	2.22	0.28083	.	0.524196	0.19942	N	0.102632	T	0.76695	0.4023	M	0.79258	2.445	0.09310	N	1	P;P;P;D;D;P	0.61080	0.711;0.698;0.811;0.989;0.98;0.711	P;B;B;D;P;P	0.67103	0.603;0.341;0.433;0.949;0.878;0.603	T	0.64622	-0.6364	10	0.51188	T	0.08	-0.5888	6.7588	0.23528	0.0:0.6033:0.1237:0.273	.	266;266;200;259;259;266	E9PBM3;B4DXZ8;B4DJM6;Q14C88;P51825;B4DTU1	.;.;.;.;AFF1_HUMAN;.	L	266;266;266;266;259	ENSP00000378578:P266L;ENSP00000427593:P266L;ENSP00000424483:P266L;ENSP00000305689:P259L	ENSP00000305689:P259L	P	+	2	0	AFF1	88187508	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.436000	0.21526	0.403000	0.25479	0.650000	0.86243	CCT	AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.537	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	-	0	37	0	C	NM_005935		87968484	1	tier1	-	no_errors	ENST00000395146	ensembl	human	known	74_37	missense	26.00	37	13	SNP	0.000	T	T	87968484	C	T	87968484	3	4	148	1	0	0	0	0	1	0	0	0	356	681	24	3	828	3	AFF1	4	87968484	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	16713039	87968484	103185792	50	37705											
HSD17B11	51170	genome.wustl.edu	37	chr4	88312183	88312183	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctagggagcagacgatcaGtaacgggagaagcaggagga	14	4	16	7	2	2	2	1	0	1	2	2	7	2	5	0	4	3	3	0	4	3	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr4:88312183G>C	ENST00000358290.4	-	1	355	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V	HSD17B11_ENST00000507286.1_Missense_Mutation_p.L14V	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	14					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CAGACGATCAGTAACGGGAGA	0.453																																																	0													54	63	60					4																	88312183		2203	4300	6503	SO:0001583	missense	0			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.40C>G	4.37:g.88312183G>C	ENSP00000351035:p.Leu14Val		Q96HF6|Q9UKU4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L14V	ENST00000358290.4	37	c.40	CCDS3619.1	4	.	.	.	.	.	.	.	.	.	.	G	6.853	0.526616	0.13066	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;D	0.85339	-1.97;-1.76	5.98	5.98	0.97165	.	0.118405	0.38837	N	0.001551	T	0.72542	0.3473	L	0.41573	1.285	0.09310	N	1	P	0.40083	0.702	B	0.30495	0.116	T	0.64879	-0.6303	10	0.06236	T	0.91	.	11.3812	0.49759	0.0:0.1355:0.7243:0.1403	.	14	Q8NBQ5	DHB11_HUMAN	V	14	ENSP00000351035:L14V;ENSP00000423775:L14V	ENSP00000351035:L14V	L	-	1	2	HSD17B11	88531207	0.662000	0.27439	0.103000	0.21229	0.035000	0.12851	1.399000	0.34566	2.838000	0.97847	0.655000	0.94253	CTG	HSD17B11	-	NULL	ENSG00000198189		0.453	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B11	HGNC	protein_coding	OTTHUMT00000253041.1	-	0	115	0	G	NM_016245		88312183	-1	tier1	-	no_errors	ENST00000358290	ensembl	human	known	74_37	missense	30.53	66	29	SNP	0.069	C	C	88312183	G	C	88312183	3	2	148	1	0	0	0	0	1	0	0	0	7407	1020	36	5	890	5	HSD17B11	4	88312183	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	343699	88312183	102842093	51	37706											
ANK2	287	genome.wustl.edu	37	chr4	114179302	114179302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcaatccaagctataacaGaggtagaaaaatgttttagc	16	11	7	7	0	1	2	1	0	0	2	2	2	2	2	1	1	3	3	1	1	8	6			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr4:114179302G>A	ENST00000357077.4	+	12	1338	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	ANK2_ENST00000506722.1_Missense_Mutation_p.E408K|ANK2_ENST00000394537.3_Missense_Mutation_p.E429K|ANK2_ENST00000264366.6_Missense_Mutation_p.E429K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	429					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)		AGCTATAACAGAGGTAGAAAA	0.403																																																	0													114	101	105					4																	114179302		2203	4300	6503	SO:0001583	missense	0			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.1285G>A	4.37:g.114179302G>A	ENSP00000349588:p.Glu429Lys		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.E429K	ENST00000357077.4	37	c.1285	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.312643	0.95655	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.70045	-0.45;2.47;2.47;2.47;-0.45;2.47;2.47	6.04	6.04	0.98038	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000032	T	0.69540	0.3122	N	0.10629	0.01	0.80722	D	1	D;D;P;P;D	0.60575	0.961;0.982;0.837;0.936;0.988	P;D;B;P;D	0.77557	0.734;0.918;0.381;0.57;0.99	T	0.74836	-0.3529	10	0.54805	T	0.06	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	429;429;429;408;408	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	K	408;408;408;444;429;429;429;408	ENSP00000423799:E408K;ENSP00000421011:E408K;ENSP00000421067:E408K;ENSP00000424722:E444K;ENSP00000378044:E429K;ENSP00000349588:E429K;ENSP00000264366:E429K	ENSP00000264366:E429K	E	+	1	0	ANK2	114398751	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.766000	0.98957	2.873000	0.98535	0.563000	0.77884	GAG	ANK2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	49	0	G	NM_001148		114179302	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	14.58	41	7	SNP	1.000	A	A	114179302	G	A	114179302	3	1	148	1	0	0	0	0	1	0	0	0	621	943	33	3	1356	3	ANK2	4	114179302	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	25867119	114179302	76974974	52	37707											
NDST4	64579	genome.wustl.edu	37	chr4	115997561	115997561	+	Missense_Mutation	SNP	T	T	A	0	1	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	ccccaggaagagggcctttcTcaaccttgggggctttggta	7	10	13	11	0	1	1	1	0	1	1	2	2	1	2	4	5	1	2	4	5	3	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr4:115997561T>A	ENST00000264363.2	-	2	1310	c.632A>T	c.(631-633)gAg>gTg	p.E211V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	211	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)		AGGGCCTTTCTCAACCTTGGG	0.408																																																	0													72	73	73					4																	115997561		2203	4300	6503	SO:0001583	missense	0			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.632A>T	4.37:g.115997561T>A	ENSP00000264363:p.Glu211Val		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.E211V	ENST00000264363.2	37	c.632	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	T	13.04	2.118143	0.37339	.	.	ENSG00000138653	ENST00000264363	T	0.37235	1.21	5.25	2.7	0.31948	.	0.098721	0.64402	D	0.000002	T	0.29976	0.0750	L	0.58810	1.83	0.37435	D	0.914208	B	0.18461	0.028	B	0.22880	0.042	T	0.14896	-1.0456	10	0.13853	T	0.58	.	8.3748	0.32436	0.1313:0.0:0.1378:0.7309	.	211	Q9H3R1	NDST4_HUMAN	V	211	ENSP00000264363:E211V	ENSP00000264363:E211V	E	-	2	0	NDST4	116217010	1.000000	0.71417	0.461000	0.27105	0.986000	0.74619	2.897000	0.48664	0.268000	0.21939	0.482000	0.46254	GAG	NDST4	-	pfam_Heparan_SO4_deacetylase	ENSG00000138653		0.408	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	-	0	46	0	T	NM_022569		115997561	-1	tier1	-	no_errors	ENST00000264363	ensembl	human	known	74_37	missense	38.24	21	13	SNP	0.584	A	A	115997561	T	A	115997561	3	1	148	1	0	0	0	0	1	0	0	0	10297	1551	54	5	2038	5	NDST4	4	115997561	Missense_Mutation	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09	1818259	115997561	75156715	53	37708											
FBXW7	55294	genome.wustl.edu	37	chr4	153249360	153249361	+	Splice_Site	INS	-	-	T																															tgacaagattttcccttaccINSttttttcatgaagatgcata																										TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr4:153249360_153249361insT	ENST00000281708.4	-	9	2646_2647	c.1417_1418insA	c.(1417-1419)aga>aAga	p.R473fs	FBXW7_ENST00000603548.1_Splice_Site_p.R473fs|FBXW7_ENST00000263981.5_Splice_Site_p.R393fs|FBXW7_ENST00000393956.3_Splice_Site_p.R297fs|FBXW7_ENST00000603841.1_Splice_Site_p.R473fs|FBXW7_ENST00000296555.5_Splice_Site_p.R355fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	473					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.R473fs*25(4)|p.R473fs*4(3)|p.R234fs*25(1)|p.R393fs*25(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)				TTTCCCTTACCTTTTTTCATGA	0.416			"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"	10	Deletion - Frameshift(6)|Insertion - Frameshift(3)|Unknown(1)	large_intestine(6)|NS(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|endometrium(1)																																								SO:0001630	splice_region_variant	0			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.1418+1->A	4.37:g.153249366_153249366dupT			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R473fs	ENST00000281708.4	37	c.1418_1417	CCDS3777.1	4																																																																																			FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109670		0.416	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1		0	69	0	-		Frame_Shift_Ins	153249361	-1	tier1		no_errors	ENST00000281708	ensembl	human	known	74_37	frame_shift_ins	18.37	80	18	INS	1.000:1.000	T	T	153249361	-	T	153249360	8	5	148	1	0	1	1	0	0	0	1	0	5791	695	24	0	721	0	FBXW7	4	153249360	Splice_Site	INS	-	TCGA-R6-A8W5-01B-11D-A37C-09	37251799	153249360	37904916	54	37709											
CCT5	22948	genome.wustl.edu	37	chr5	10260964	10260964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgatgatgaagcaaatCacttacttcttcagaacaac	14	12	6	9	0	3	4	2	3	1	1	3	4	3	4	0	0	4	2	0	0	5	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:10260964C>A	ENST00000280326.4	+	7	1354	c.934C>A	c.(934-936)Cac>Aac	p.H312N	CCT5_ENST00000503026.1_Missense_Mutation_p.H291N|CCT5_ENST00000515676.1_Missense_Mutation_p.H274N|CCT5_ENST00000515390.1_Missense_Mutation_p.H257N|CCT5_ENST00000506600.1_Missense_Mutation_p.H219N	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	312					'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						TGAAGCAAATCACTTACTTCT	0.448																																																	0													243	251	248					5																	10260964		2203	4300	6503	SO:0001583	missense	0			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.934C>A	5.37:g.10260964C>A	ENSP00000280326:p.His312Asn		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.H312N	ENST00000280326.4	37	c.934	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.349819	0.95830	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.89033	0.6600	H	0.97390	3.995	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.99;0.99;0.976;1.0;1.0;1.0	D	0.92312	0.5858	10	0.87932	D	0	-28.499	19.0925	0.93233	0.0:1.0:0.0:0.0	.	219;257;161;310;312;312	B4DYD8;E7ENZ3;B4DZY9;Q9BU08;A8K2X8;P48643	.;.;.;.;.;TCPE_HUMAN	N	312;291;257;285;274;219	ENSP00000280326:H312N;ENSP00000423318:H291N;ENSP00000426923:H257N;ENSP00000427297:H274N;ENSP00000423052:H219N	ENSP00000280326:H312N	H	+	1	0	CCT5	10313964	1.000000	0.71417	0.943000	0.38184	0.989000	0.77384	7.319000	0.79040	2.746000	0.94184	0.586000	0.80456	CAC	CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_epsi	ENSG00000150753		0.448	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	-	0	98	0	C			10260964	1	tier1	-	no_errors	ENST00000280326	ensembl	human	known	74_37	missense	14.81	68	12	SNP	1.000	A	A	10260964	C	A	10260964	3	1	148	1	0	0	0	0	1	0	0	0	2963	826	29	3	960	3	CCT5	5	10260964	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09		10260964	170654296	55	37710											
DNAH5	1767	genome.wustl.edu	37	chr5	13871844	13871844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccaaatgtgattgtagcGtttgaagcaatccatggatg	11	13	11	6	1	0	2	0	2	0	0	1	3	1	3	2	1	3	3	2	1	4	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:13871844G>A	ENST00000265104.4	-	23	3531	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1143	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATTGTAGCGTTTGAAGCAA	0.343									Kartagener syndrome																																								0													93	102	99					5																	13871844		2203	4300	6503	SO:0001583	missense	0	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.3427C>T	5.37:g.13871844G>A	ENSP00000265104:p.Arg1143Cys		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1143C	ENST00000265104.4	37	c.3427	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661732	0.29515	.	.	ENSG00000039139	ENST00000265104	T	0.24723	1.84	5.99	-5.37	0.02681	.	0.707817	0.15428	N	0.262858	T	0.09642	0.0237	N	0.04768	-0.165	0.31283	N	0.690324	B	0.02656	0.0	B	0.04013	0.001	T	0.10520	-1.0626	10	0.44086	T	0.13	.	8.9435	0.35745	0.648:0.0:0.1547:0.1972	.	1143	Q8TE73	DYH5_HUMAN	C	1143	ENSP00000265104:R1143C	ENSP00000265104:R1143C	R	-	1	0	DNAH5	13924844	0.002000	0.14202	0.866000	0.34008	0.959000	0.62525	-0.835000	0.04386	-0.866000	0.04068	-0.748000	0.03510	CGC	DNAH5	-	NULL	ENSG00000039139		0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	66	0	G	NM_001369		13871844	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	13.76	93	15	SNP	0.356	A	A	13871844	G	A	13871844	3	1	148	1	0	0	0	0	1	0	0	0	4618	1145	40	1	10675	1	DNAH5	5	13871844	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	3610880	13871844	167043416	56	37711											
CDH18	1016	genome.wustl.edu	37	chr5	19503156	19503156	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaggcgttcatcaagaaaGaagttaaaccttggtccatt	13	10	10	8	1	2	2	2	0	0	2	3	2	3	2	2	3	1	3	2	3	5	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:19503156G>A	ENST00000507958.1	-	13	2565	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	CDH18_ENST00000274170.4_Silent_p.F525F|CDH18_ENST00000502796.1_Silent_p.F525F|CDH18_ENST00000511273.1_Silent_p.F525F|CDH18_ENST00000506372.1_Silent_p.F525F|CDH18_ENST00000382275.1_Silent_p.F525F			Q13634	CAD18_HUMAN	cadherin 18, type 2	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CATCAAGAAAGAAGTTAAACC	0.338																																																	0													135	125	128					5																	19503156		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1575C>T	5.37:g.19503156G>A			A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F525	ENST00000507958.1	37	c.1575	CCDS3889.1	5																																																																																			CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000145526		0.338	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	-	0	55	0	G	NM_004934		19503156	-1	tier1	-	no_errors	ENST00000274170	ensembl	human	known	74_37	silent	7.53	86	7	SNP	1.000	A	A	19503156	G	A	19503156	2	1	148	1	0	0	0	0	0	0	0	1	3110	933	33	3		3	CDH18	5	19503156	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	5631312	19503156	161412104	57	37712											
HCN1	348980	genome.wustl.edu	37	chr5	45645495	45645495	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctttttaaataattcatcTtgatcactttggggtccagg	10	16	8	7	0	3	1	2	1	1	0	4	1	4	1	1	3	1	1	1	3	3	7	rs527655367		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:45645495T>G	ENST00000303230.4	-	2	698	c.641A>C	c.(640-642)aAg>aCg	p.K214T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	214					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						ATAATTCATCTTGATCACTTT	0.373																																																	0													88	83	85					5																	45645495		2203	4300	6503	SO:0001583	missense	0			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.641A>C	5.37:g.45645495T>G	ENSP00000307342:p.Lys214Thr			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.K214T	ENST00000303230.4	37	c.641	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516650	0.64634	.	.	ENSG00000164588	ENST00000303230	D	0.97959	-4.63	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.64402	D	0.000009	D	0.96185	0.8756	L	0.35854	1.095	0.80722	D	1	B	0.33777	0.425	B	0.40940	0.344	D	0.96155	0.9111	10	0.62326	D	0.03	.	15.3658	0.74519	0.0:0.0:0.0:1.0	.	214	O60741	HCN1_HUMAN	T	214	ENSP00000307342:K214T	ENSP00000307342:K214T	K	-	2	0	HCN1	45681252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.038000	0.60285	0.454000	0.30748	AAG	HCN1	-	pfam_Ion_trans_dom	ENSG00000164588		0.373	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	90	0	T	NM_021072		45645495	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	6.67	70	5	SNP	1.000	G	G	45645495	T	G	45645495	3	3	148	1	0	0	0	0	1	0	0	0	7023	1609	56	4	2059	4	HCN1	5	45645495	Missense_Mutation	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09	26142339	45645495	135269765	58	37713											
MCTP1	79772	genome.wustl.edu	37	chr5	94230447	94230447	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgatgctgtcagagtGaccagcagcaccaggtgtcc	8	8	14	11	0	1	3	1	2	0	1	2	3	2	3	3	2	3	4	3	2	0	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:94230447G>T	ENST00000515393.1	-	11	1745	c.1746C>A	c.(1744-1746)gtC>gtA	p.V582V	MCTP1_ENST00000312216.8_Silent_p.V361V|MCTP1_ENST00000505078.1_Silent_p.V98V|MCTP1_ENST00000505208.1_Silent_p.V361V|MCTP1_ENST00000429576.2_Silent_p.V315V	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	582					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)		CTGTCAGAGTGACCAGCAGCA	0.542																																																	0													96	78	84					5																	94230447		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1746C>A	5.37:g.94230447G>T			Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.V582	ENST00000515393.1	37	c.1746	CCDS34203.1	5																																																																																			MCTP1	-	NULL	ENSG00000175471		0.542	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	HGNC	protein_coding	OTTHUMT00000370280.3	-	0	37	0	G	NM_024717		94230447	-1	tier1	-	no_errors	ENST00000515393	ensembl	human	known	74_37	silent	21.05	30	8	SNP	1.000	T	T	94230447	G	T	94230447	2	4	148	1	0	0	0	0	0	0	0	1	9438	1277	45	3		3	MCTP1	5	94230447	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	48584952	94230447	86684813	59	37714											
SPOCK1	6695	genome.wustl.edu	37	chr5	136324305	136324305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcccagggagtccttgCagatgggcaggatgctagtg	8	8	15	10	0	0	1	0	0	0	1	2	3	2	3	3	3	3	3	3	3	1	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:136324305C>T	ENST00000394945.1	-	8	903	c.734G>A	c.(733-735)tGc>tAc	p.C245Y	SPOCK1_ENST00000282223.7_Missense_Mutation_p.C245Y|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	245					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGTCCTTGCAGATGGGCAG	0.512																																																	0													103	86	92					5																	136324305		2203	4300	6503	SO:0001583	missense	0			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.734G>A	5.37:g.136324305C>T	ENSP00000378401:p.Cys245Tyr		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.C245Y	ENST00000394945.1	37	c.734	CCDS4191.1	5	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965279	0.92855	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.51574	0.7;0.7	6.06	6.06	0.98353	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75057	0.3798	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77800	-0.2452	10	0.87932	D	0	.	19.6164	0.95636	0.0:1.0:0.0:0.0	.	245	Q08629	TICN1_HUMAN	Y	245	ENSP00000378401:C245Y;ENSP00000282223:C245Y	ENSP00000282223:C245Y	C	-	2	0	SPOCK1	136352204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.871000	0.98454	0.655000	0.94253	TGC	SPOCK1	-	pfam_SPARC/Testican_Ca-bd-dom	ENSG00000152377		0.512	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOCK1	HGNC	protein_coding	OTTHUMT00000251222.1	-	0	37	0	C	NM_004598		136324305	-1	tier1	-	no_errors	ENST00000282223	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	136324305	C	T	136324305	3	4	148	1	0	0	0	0	1	0	0	0	15126	710	25	3	601	3	SPOCK1	5	136324305	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	42093858	136324305	44590955	60	37715											
PCDHA1	56147	genome.wustl.edu	37	chr5	140167909	140167909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggccaggcgccaaaggcGtcttcgcgggcgtcggtggg	5	5	19	12	7	1	0	0	0	1	0	3	0	1	0	2	6	1	0	2	6	1	1	rs562110007		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:140167909G>A	ENST00000504120.2	+	1	2034	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.A678A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	678	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A678A(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCAAAGGCGTCTTCGCGGG	0.662													.|||	1	0.000199681	0	0	5008	,	,		16213	0		0.001	False		,,,				2504	0																2	Substitution - coding silent(2)	prostate(2)											42	47	45					5																	140167909		2201	4300	6501	SO:0001819	synonymous_variant	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2034G>A	5.37:g.140167909G>A			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A678	ENST00000504120.2	37	c.2034	CCDS54913.1	5																																																																																			PCDHA1	-	pfscan_Cadherin	ENSG00000204970		0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	-	0	89	0	G	NM_018900		140167909	1	tier1	-	no_errors	ENST00000504120	ensembl	human	known	74_37	silent	5.49	86	5	SNP	0.000	A	A	140167909	G	A	140167909	2	1	148	1	0	0	0	0	0	0	0	1	11558	1132	40	1		1	PCDHA1	5	140167909	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	3843604	140167909	40747351	61	37716											
PCDHB1	29930	genome.wustl.edu	37	chr5	140431920	140431920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaaaacccagaagcaattCtcaagacgtttcagattgac	15	9	6	11	1	3	4	3	1	1	3	4	4	3	4	1	0	2	2	1	0	5	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:140431920C>T	ENST00000306549.3	+	1	942	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAGCAATTCTCAAGACGTT	0.473																																																	0													68	69	68					5																	140431920		2203	4300	6503	SO:0001583	missense	0			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.865C>T	5.37:g.140431920C>T	ENSP00000307234:p.Leu289Phe		Q2M257	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L289F	ENST00000306549.3	37	c.865	CCDS4243.1	5	.	.	.	.	.	.	.	.	.	.	C	7.173	0.588029	0.13812	.	.	ENSG00000171815	ENST00000306549	T	0.51817	0.69	6.17	1.97	0.26223	Cadherin (4);Cadherin-like (1);	0.204216	0.25186	N	0.032490	T	0.34716	0.0907	L	0.41710	1.295	0.09310	N	1	P	0.45634	0.863	B	0.43990	0.438	T	0.09465	-1.0673	10	0.24483	T	0.36	.	4.8782	0.13667	0.3266:0.38:0.2299:0.0635	.	289	Q9Y5F3	PCDB1_HUMAN	F	289	ENSP00000307234:L289F	ENSP00000307234:L289F	L	+	1	0	PCDHB1	140412104	0.000000	0.05858	0.643000	0.29450	0.708000	0.40852	-0.342000	0.07801	0.904000	0.36572	0.655000	0.94253	CTC	PCDHB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000171815		0.473	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2	-	0	72	0	C	NM_013340		140431920	1	tier1	-	no_errors	ENST00000306549	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.000	T	T	140431920	C	T	140431920	3	4	148	1	0	0	0	0	1	0	0	0	11573	913	32	3	867	3	PCDHB1	5	140431920	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	264011	140431920	40483340	62	37717											
PCDHGA3	56112	genome.wustl.edu	37	chr5	140724088	140724088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcttttgacccagatgtagGcattaactccctgcagaact	10	12	8	11	0	0	3	0	1	0	2	1	3	1	3	2	1	4	4	2	1	3	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:140724088G>T	ENST00000253812.6	+	1	488	c.488G>T	c.(487-489)gGc>gTc	p.G163V	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	163	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(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGATGTAGGCATTAACTCC	0.463																																																	0													84	82	82					5																	140724088		1937	4132	6069	SO:0001583	missense	0			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.488G>T	5.37:g.140724088G>T	ENSP00000253812:p.Gly163Val		Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G163V	ENST00000253812.6	37	c.488	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	20.8	4.054644	0.75960	.	.	ENSG00000254245	ENST00000253812	T	0.28454	1.61	5.65	5.65	0.86999	Cadherin (3);Cadherin-like (1);	0.000000	0.33572	U	0.004772	T	0.74876	0.3774	H	0.99325	4.515	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74674	0.983;0.984	D	0.85654	0.1284	10	0.87932	D	0	.	19.7068	0.96076	0.0:0.0:1.0:0.0	.	163;163	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	163	ENSP00000253812:G163V	ENSP00000253812:G163V	G	+	2	0	PCDHGA3	140704272	1.000000	0.71417	0.980000	0.43619	0.924000	0.55760	7.830000	0.86741	2.824000	0.97209	0.655000	0.94253	GGC	PCDHGA3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254245		0.463	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	-	0	44	0	G	NM_018916		140724088	1	tier1	-	no_errors	ENST00000253812	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	140724088	G	T	140724088	3	4	148	1	0	0	0	0	1	0	0	0	11594	1203	42	3	490	3	PCDHGA3	5	140724088	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	292168	140724088	40191172	63	37718											
PCDH1	5097	genome.wustl.edu	37	chr5	141244537	141244537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcaggaaatacttcttCttgctgtcactgcctgtctc	6	15	8	12	0	5	0	1	0	4	0	6	1	5	1	1	1	4	2	1	1	2	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:141244537C>A	ENST00000394536.3	-	3	1498	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.K441N|PCDH1_ENST00000287008.3_Missense_Mutation_p.K453N|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Missense_Mutation_p.K431N	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	453	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		AATACTTCTTCTTGCTGTCAC	0.557																																					Ovarian(132;1609 1739 4190 14731 45037)												0													182	171	174					5																	141244537		2203	4300	6503	SO:0001583	missense	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1359G>T	5.37:g.141244537C>A	ENSP00000378043:p.Lys453Asn		Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K453N	ENST00000394536.3	37	c.1359	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	c	14.29	2.492526	0.44352	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.37915	1.17;4.66;4.66;4.66;4.66	5.88	4.99	0.66335	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000048	T	0.50051	0.1593	L	0.42581	1.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.45116	-0.9283	10	0.41790	T	0.15	.	12.0419	0.53458	0.0:0.9132:0.0:0.0868	.	453;453	Q08174;Q08174-2	PCDH1_HUMAN;.	N	453;453;441;464;431	ENSP00000287008:K453N;ENSP00000378043:K453N;ENSP00000403497:K441N;ENSP00000350122:K464N;ENSP00000438825:K431N	ENSP00000287008:K453N	K	-	3	2	PCDH1	141224721	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.880000	0.39628	1.443000	0.47586	0.645000	0.84053	AAG	PCDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000156453		0.557	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	-	0	14	0	C	NM_032420		141244537	-1	tier1	-	no_errors	ENST00000287008	ensembl	human	known	74_37	missense	40.00	9	6	SNP	1.000	A	A	141244537	C	A	141244537	3	1	148	1	0	0	0	0	1	0	0	0	11545	912	32	3	2450	3	PCDH1	5	141244537	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	520449	141244537	39670723	64	37719											
ATP10B	23120	genome.wustl.edu	37	chr5	160025796	160025796	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcagagttctggccactcTtgtatagctcaggcaatgcc	8	11	9	13	0	4	1	2	0	2	1	4	1	4	1	3	2	2	4	3	2	3	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:160025796T>A	ENST00000327245.5	-	22	4391	c.3545A>T	c.(3544-3546)aAg>aTg	p.K1182M		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1182					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)			CTGGCCACTCTTGTATAGCTC	0.498																																																	0													269	255	260					5																	160025796		1940	4133	6073	SO:0001583	missense	0			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.3545A>T	5.37:g.160025796T>A	ENSP00000313600:p.Lys1182Met		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.K1182M	ENST00000327245.5	37	c.3545	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	T	13.86	2.362223	0.41902	.	.	ENSG00000118322	ENST00000327245	T	0.68624	-0.34	5.53	1.82	0.25136	.	0.218042	0.47455	D	0.000236	T	0.70587	0.3241	L	0.52011	1.625	0.42190	D	0.991725	D	0.71674	0.998	D	0.63033	0.91	T	0.67146	-0.5744	9	.	.	.	.	8.9732	0.35919	0.0:0.2155:0.0:0.7845	.	1182	O94823	AT10B_HUMAN	M	1182	ENSP00000313600:K1182M	.	K	-	2	0	ATP10B	159958374	0.967000	0.33354	0.994000	0.49952	0.973000	0.67179	1.326000	0.33735	0.407000	0.25591	0.533000	0.62120	AAG	ATP10B	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000118322		0.498	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	-	0	53	0	T	NM_025153		160025796	-1	tier1	-	no_errors	ENST00000327245	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.987	A	A	160025796	T	A	160025796	3	1	148	1	0	0	0	0	1	0	0	0	1118	1609	56	5	860	5	ATP10B	5	160025796	Missense_Mutation	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09	18781259	160025796	20889464	65	37720											
KCNIP1	30820	genome.wustl.edu	37	chr5	169780917	169780917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgcaagcttgggttcGtgaaatttgcccagaccatc	12	10	10	9	1	0	3	0	1	0	2	2	3	0	3	2	1	3	3	2	1	3	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:169780917G>A	ENST00000377360.4	+	1	427	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	KCNIP1_ENST00000518527.1_3'UTR	NM_001034838.2	NP_001030010.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	0					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)			GCTTGGGTTCGTGAAATTTGC	0.557																																																	0													103	85	91					5																	169780917		2203	4300	6503	SO:0001583	missense	0			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	ENST00000377360.4:c.37G>A	5.37:g.169780917G>A	ENSP00000366577:p.Val13Met		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.V13M	ENST00000377360.4	37	c.37	CCDS34285.1	5	.	.	.	.	.	.	.	.	.	.	G	7.021	0.558734	0.13436	.	.	ENSG00000182132	ENST00000377360	T	0.69926	-0.44	5.16	2.3	0.28687	.	.	.	.	.	T	0.36717	0.0977	N	0.08118	0	0.80722	D	1	B	0.31968	0.349	B	0.18871	0.023	T	0.06250	-1.0837	8	.	.	.	.	7.2599	0.26197	0.0902:0.3267:0.5831:0.0	.	13	Q3YAD3	.	M	13	ENSP00000366577:V13M	.	V	+	1	0	KCNIP1	169713495	1.000000	0.71417	0.470000	0.27216	0.112000	0.19704	1.957000	0.40392	0.170000	0.19704	0.561000	0.74099	GTG	KCNIP1	-	NULL	ENSG00000182132		0.557	KCNIP1-005	KNOWN	basic|CCDS	protein_coding	KCNIP1	HGNC	protein_coding	OTTHUMT00000371845.1		0	126	0	G			169780917	1			no_errors	ENST00000377360	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.909	A	A	169780917	G	A	169780917	3	1	148	1	0	0	0	0	1	0	0	0	8066	1145	40	1	39	1	KCNIP1	5	169780917	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	9755121	169780917	11134343	66	37721											
HK3	3101	genome.wustl.edu	37	chr5	176314483	176314483	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggcccggacgaaagtGggcagcatgcgaagggagga	10	3	21	7	3	0	0	0	0	0	0	0	5	0	3	1	7	2	2	1	7	2	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr5:176314483G>T	ENST00000292432.5	-	11	1660	c.1569C>A	c.(1567-1569)ccC>ccA	p.P523P		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	523	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACGAAAGTGGGCAGCATGC	0.657																																																	0													35	35	35					5																	176314483		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1569C>A	5.37:g.176314483G>T			Q8N1E7	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.P523	ENST00000292432.5	37	c.1569	CCDS4407.1	5																																																																																			HK3	-	pfam_Hexokinase_N	ENSG00000160883		0.657	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK3	HGNC	protein_coding	OTTHUMT00000253428.1	-	0	100	0	G			176314483	-1	tier1	-	no_errors	ENST00000292432	ensembl	human	known	74_37	silent	17.05	73	15	SNP	1.000	T	T	176314483	G	T	176314483	2	4	148	1	0	0	0	0	0	0	0	1	7219	1335	47	3		3	HK3	5	176314483	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	6533566	176314483	4600777	67	37722											
SCAND3	114821	genome.wustl.edu	37	chr6	28542713	28542713	+	Missense_Mutation	SNP	T	T	G	0	1	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	tgctctcaggagggctttttTcagccaccttaggagtgaca	8	12	11	10	0	2	1	2	1	1	0	3	3	2	3	2	3	2	2	2	3	1	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr6:28542713T>G	ENST00000452236.2	-	3	2386	c.1769A>C	c.(1768-1770)gAa>gCa	p.E590A	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						AGGGCTTTTTTCAGCCACCTT	0.363																																																	0													52	51	51					6																	28542713		2203	4300	6503	SO:0001583	missense	0																														ENST00000452236.2:c.1769A>C	6.37:g.28542713T>G	ENSP00000395259:p.Glu590Ala			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.E590A	ENST00000452236.2	37	c.1769	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	T	0.250	-1.007522	0.02112	.	.	ENSG00000232040	ENST00000452236	T	0.01584	4.75	3.41	-4.5	0.03493	.	.	.	.	.	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44360	-0.9333	9	0.35671	T	0.21	.	0.989	0.01452	0.17:0.3316:0.1742:0.3242	.	590	Q6R2W3	SCND3_HUMAN	A	590	ENSP00000395259:E590A	ENSP00000395259:E590A	E	-	2	0	SCAND3	28650692	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.580000	0.02121	-1.070000	0.03149	-0.371000	0.07208	GAA	SCAND3	-	NULL	ENSG00000232040		0.363	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	-	0	45	0	T			28542713	-1	tier1	-	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	32.39	48	23	SNP	0.000	G	G	28542713	T	G	28542713	3	3	148	1	0	0	0	0	1	0	0	0	13921	1783	62	4	2216	4	SCAND3	6	28542713	Missense_Mutation	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09		28542713	142572354	68	37723											
APOBEC2	10930	genome.wustl.edu	37	chr6	41029176	41029176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgaagcacagggcaaggggGgccaagtgcaggcatctcgg	10	5	17	9	1	1	1	0	1	1	0	2	1	1	1	1	6	2	4	1	6	3	1	rs144963628		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr6:41029176G>A	ENST00000244669.2	+	2	285	c.241G>A	c.(241-243)Ggc>Agc	p.G81S		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	81					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGCAAGGGGGGCCAAGTGCA	0.557																																					Ovarian(118;1320 2185 8096 29684)												0													80	77	78					6																	41029176		2203	4300	6503	SO:0001583	missense	0			AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"Apolipoprotein B mRNA editing enzymes"	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.241G>A	6.37:g.41029176G>A	ENSP00000244669:p.Gly81Ser		B2R899|Q53F28|Q5TGU5|Q5TGU6	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.G81S	ENST00000244669.2	37	c.241	CCDS4848.1	6	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501346	0.26861	.	.	ENSG00000124701	ENST00000244669	T	0.61859	0.07	5.69	4.81	0.61882	APOBEC-like, N-terminal (1);	0.539436	0.21461	N	0.074167	T	0.16557	0.0398	N	0.10707	0.03	0.43703	D	0.996165	B	0.25272	0.122	B	0.20577	0.03	T	0.10451	-1.0629	10	0.08381	T	0.77	.	11.6757	0.51427	0.0847:0.0:0.9153:0.0	.	81	Q9Y235	ABEC2_HUMAN	S	81	ENSP00000244669:G81S	ENSP00000244669:G81S	G	+	1	0	APOBEC2	41137154	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.318000	0.51975	2.676000	0.91093	0.655000	0.94253	GGC	APOBEC2	-	pfam_APOBEC_N	ENSG00000124701		0.557	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC2	HGNC	protein_coding	OTTHUMT00000040498.1	-	0	68	0	G	NM_006789		41029176	1	tier1	-	no_errors	ENST00000244669	ensembl	human	known	74_37	missense	31.76	58	27	SNP	1.000	A	A	41029176	G	A	41029176	3	1	148	1	0	0	0	0	1	0	0	0	788	1232	43	3	247	3	APOBEC2	6	41029176	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	12486463	41029176	130085891	69	37724											
TTBK1	84630	genome.wustl.edu	37	chr6	43214429	43214429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagcggccgcccttaaggacGaaaccaacatgagtggggga	12	5	14	10	3	0	1	0	1	0	0	0	4	0	3	3	4	3	0	3	4	4	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr6:43214429G>A	ENST00000259750.4	+	2	114	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	TTBK1_ENST00000304139.5_5'Flank	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	11					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)			CCTTAAGGACGAAACCAACAT	0.667																																																	0													36	33	34					6																	43214429		2203	4300	6503	SO:0001583	missense	0			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.31G>A	6.37:g.43214429G>A	ENSP00000259750:p.Glu11Lys		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E11K	ENST00000259750.4	37	c.31	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675026	0.88445	.	.	ENSG00000146216	ENST00000259750	T	0.52295	0.67	4.77	3.9	0.45041	.	0.162071	0.40908	D	0.000990	T	0.15392	0.0371	N	0.19112	0.55	0.80722	D	1	P	0.35011	0.48	B	0.24006	0.05	T	0.07558	-1.0766	10	0.59425	D	0.04	.	11.8577	0.52449	0.0869:0.0:0.9131:0.0	.	11	Q5TCY1	TTBK1_HUMAN	K	11	ENSP00000259750:E11K	ENSP00000259750:E11K	E	+	1	0	TTBK1	43322407	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.889000	0.63171	1.000000	0.39049	-0.136000	0.14681	GAA	TTBK1	-	NULL	ENSG00000146216		0.667	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	-	0	147	0	G			43214429	1	tier1	-	no_errors	ENST00000259750	ensembl	human	known	74_37	missense	19.59	78	19	SNP	1.000	A	A	43214429	G	A	43214429	3	1	148	1	0	0	0	0	1	0	0	0	16725	1059	37	1	33	1	TTBK1	6	43214429	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	2185253	43214429	127900638	70	37725											
PBOV1	59351	genome.wustl.edu	37	chr6	138539138	138539138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagagtttatatgatctgtGgatgtatagttttggataag	11	17	12	1	0	1	2	0	2	1	1	1	5	1	4	0	2	0	3	0	2	5	8			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr6:138539138G>T	ENST00000527246.2	-	1	489	c.395C>A	c.(394-396)cCa>cAa	p.P132Q	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	132						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		TATGATCTGTGGATGTATAGT	0.393																																																	0													101	103	102					6																	138539138		2203	4300	6503	SO:0001583	missense	0			AF189269	CCDS5190.1	6q23.3	2012-02-09			ENSG00000254440	ENSG00000254440			21079	protein-coding gene	gene with protein product		605669				12553037, 11156405	Standard	NM_021635		Approved	UC28, UROC28	uc003qhv.3	Q9GZY1	OTTHUMG00000167040	ENST00000527246.2:c.395C>A	6.37:g.138539138G>T	ENSP00000432353:p.Pro132Gln			Missense_Mutation	SNP	NULL	p.P132Q	ENST00000527246.2	37	c.395	CCDS5190.1	6	.	.	.	.	.	.	.	.	.	.	G	4.932	0.173091	0.09391	.	.	ENSG00000254440	ENST00000527246	T	0.57752	0.38	3.53	-3.64	0.04515	.	.	.	.	.	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	P	0.40332	0.713	B	0.37304	0.246	T	0.13176	-1.0519	9	0.87932	D	0	.	3.2463	0.06798	0.3257:0.0:0.2161:0.4582	.	132	Q9GZY1	PBOV1_HUMAN	Q	132	ENSP00000432353:P132Q	ENSP00000432353:P132Q	P	-	2	0	PBOV1	138580831	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.986000	0.03747	-0.902000	0.03886	0.655000	0.94253	CCA	PBOV1	-	NULL	ENSG00000254440		0.393	PBOV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBOV1	HGNC	protein_coding	OTTHUMT00000392617.1	-	0	76	0	G	NM_021635		138539138	-1	tier1	-	no_errors	ENST00000527246	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T	T	138539138	G	T	138539138	3	4	148	1	0	0	0	0	1	0	0	0	11529	1348	47	3	16	3	PBOV1	6	138539138	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	95324709	138539138	32575929	71	37726											
SYNJ2	8871	genome.wustl.edu	37	chr6	158505053	158505053	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatattcttgaagacgatGaagactacttggtggatgaa	13	11	13	4	1	1	5	0	3	1	2	1	8	1	7	0	3	1	0	0	3	5	5			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr6:158505053G>T	ENST00000355585.4	+	22	3130	c.3055G>T	c.(3055-3057)Gaa>Taa	p.E1019*	SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.E1019*|SYNJ2_ENST00000367112.1_Nonsense_Mutation_p.E104*|SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.E1019*	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1019					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)		TGAAGACGATGAAGACTACTT	0.527																																																	0													237	255	249					6																	158505053		2203	4300	6503	SO:0001587	stop_gained	0			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.3055G>T	6.37:g.158505053G>T	ENSP00000347792:p.Glu1019*		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Nonsense_Mutation	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.E1019*	ENST00000355585.4	37	c.3055	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	G	38	7.219427	0.98143	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	.	.	.	5.08	5.08	0.68730	.	0.105878	0.41605	D	0.000856	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	15.202	0.73147	0.0:0.0:1.0:0.0	.	.	.	.	X	1019;1019;1019;104	.	ENSP00000347792:E1019X	E	+	1	0	SYNJ2	158425041	0.998000	0.40836	0.101000	0.21167	0.214000	0.24535	5.004000	0.63966	1.922000	0.55676	0.482000	0.46254	GAA	SYNJ2	-	NULL	ENSG00000078269		0.527	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	-	0	69	0	G			158505053	1	tier1	-	no_errors	ENST00000355585	ensembl	human	known	74_37	nonsense	28.57	45	18	SNP	0.422	T	T	158505053	G	T	158505053	4	4	148	1	0	0	0	0	0	1	0	0	15500	1291	45	3	3141	3	SYNJ2	6	158505053	Nonsense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	19965915	158505053	12610014	72	37727											
TULP4	56995	genome.wustl.edu	37	chr6	158900956	158900956	+	Silent	SNP	G	G	T	0	0	1	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	gacgtcagcaagctgactctGcccccccgcctctgctccta	6	8	8	19	2	3	1	1	1	2	0	4	2	4	1	5	0	4	3	5	0	2	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr6:158900956G>T	ENST00000367097.3	+	7	2557	c.1200G>T	c.(1198-1200)ctG>ctT	p.L400L	TULP4_ENST00000367094.2_Silent_p.L400L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	400	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R403fs*91(1)		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)		AGCTGACTCTGCCCCCCCGCC	0.642																																																	1	Insertion - Frameshift(1)	large_intestine(1)											75	72	73					6																	158900956		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1200G>T	6.37:g.158900956G>T			Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L400	ENST00000367097.3	37	c.1200	CCDS34561.1	6																																																																																			TULP4	-	pfam_SOCS_C,superfamily_Tumour_necrosis_fac-like_dom,smart_SOCS_C,pfscan_SOCS_C	ENSG00000130338		0.642	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1		0	44	0	G	NM_020245		158900956	1			no_errors	ENST00000367097	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	T	T	158900956	G	T	158900956	2	4	148	1	0	0	0	0	0	0	0	1	16825	1306	46	3		3	TULP4	6	158900956	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	395903	158900956	12214111	73	37728											
PARK2	5071	genome.wustl.edu	37	chr6	161771153	161771153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acacgtcgaaccagtggtccCccatgcagacgcggttccac	9	6	10	16	4	0	1	0	0	0	1	3	2	2	1	4	2	2	2	4	2	1	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr6:161771153C>T	ENST00000366898.1	-	12	1478	c.1376G>A	c.(1375-1377)gGg>gAg	p.G459E	PARK2_ENST00000366896.1_Missense_Mutation_p.G310E|PARK2_ENST00000366897.1_Missense_Mutation_p.G431E|PARK2_ENST00000366894.1_Missense_Mutation_p.G268E|PARK2_ENST00000338468.3_Missense_Mutation_p.G268E	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	459					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)		CCAGTGGTCCCCCATGCAGAC	0.612																																																	0													45	39	41					6																	161771153		2203	4300	6503	SO:0001583	missense	0				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.1376G>A	6.37:g.161771153C>T	ENSP00000355865:p.Gly459Glu		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin	p.G459E	ENST00000366898.1	37	c.1376	CCDS5281.1	6	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619230	0.87460	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468	D;D;D;D;D	0.92965	-2.82;-2.93;-3.14;-2.52;-2.52	5.27	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.92485	0.7614	L	0.49126	1.545	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.993	D;P;P	0.75020	0.985;0.896;0.896	D	0.92801	0.6256	10	0.54805	T	0.06	.	12.8544	0.57876	0.0:0.8356:0.1644:0.0	.	310;431;459	Q5VVX3;Q5VVX4;O60260	.;.;PRKN2_HUMAN	E	459;431;310;268;268	ENSP00000355865:G459E;ENSP00000355863:G431E;ENSP00000355862:G310E;ENSP00000355860:G268E;ENSP00000343589:G268E	ENSP00000343589:G268E	G	-	2	0	PARK2	161691143	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	5.476000	0.66793	1.163000	0.42636	0.563000	0.77884	GGG	PARK2	-	pirsf_Parkin,prints_Parkin	ENSG00000185345		0.612	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	-	0	115	0	C			161771153	-1	tier1	-	no_errors	ENST00000366898	ensembl	human	known	74_37	missense	24.30	81	26	SNP	1.000	T	T	161771153	C	T	161771153	3	4	148	1	0	0	0	0	1	0	0	0	11488	623	22	3	25	3	PARK2	6	161771153	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	2870197	161771153	9343914	74	37729											
CDK13	8621	genome.wustl.edu	37	chr7	40118419	40118419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtgcgagttcctccgaGatgtggaaccctcaaaaatg	11	10	10	10	2	2	1	2	0	0	1	4	4	4	2	3	1	2	1	3	1	3	2	rs34759339		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr7:40118419G>T	ENST00000181839.4	+	11	3603	c.2998G>T	c.(2998-3000)Gat>Tat	p.D1000Y	CDK13_ENST00000340829.5_Missense_Mutation_p.D1000Y	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1000					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						GTTCCTCCGAGATGTGGAACC	0.368																																																	0													75	73	74					7																	40118419		2203	4300	6503	SO:0001583	missense	0			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.2998G>T	7.37:g.40118419G>T	ENSP00000181839:p.Asp1000Tyr		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D1000Y	ENST00000181839.4	37	c.2998	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388287	0.42308	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.47528	0.84;0.84	5.4	4.52	0.55395	Protein kinase-like domain (1);	.	.	.	.	T	0.65144	0.2663	L	0.60455	1.87	0.58432	D	0.999998	D;D	0.89917	1.0;0.982	D;P	0.91635	0.999;0.776	T	0.65668	-0.6112	8	.	.	.	-13.0712	16.6039	0.84823	0.0:0.1303:0.8697:0.0	.	1000;1000	Q14004-2;Q14004	.;CDK13_HUMAN	Y	1000	ENSP00000181839:D1000Y;ENSP00000340557:D1000Y	.	D	+	1	0	CDK13	40084944	1.000000	0.71417	0.992000	0.48379	0.564000	0.35744	8.023000	0.88764	1.408000	0.46895	-0.150000	0.13652	GAT	CDK13	-	superfamily_Kinase-like_dom	ENSG00000065883		0.368	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	-	0	111	0	G	NM_003718		40118419	1	tier1	-	no_errors	ENST00000181839	ensembl	human	known	74_37	missense	7.69	108	9	SNP	1.000	T	T	40118419	G	T	40118419	3	4	148	1	0	0	0	0	1	0	0	0	3136	942	33	3	3040	3	CDK13	7	40118419	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		40118419	119020244	75	37730											
MGAM	8972	genome.wustl.edu	37	chr7	141708480	141708480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaattggaacgaattaattGcatccctgaccagccgccaa	13	9	8	11	2	0	2	0	2	0	0	1	4	1	3	4	1	3	1	4	1	5	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr7:141708480G>T	ENST00000549489.2	+	3	397	c.302G>T	c.(301-303)tGc>tTc	p.C101F	MGAM_ENST00000475668.2_Missense_Mutation_p.C101F	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	101	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGAATTAATTGCATCCCTGAC	0.388																																																	0													75	75	75					7																	141708480		1877	4105	5982	SO:0001583	missense	0			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.302G>T	7.37:g.141708480G>T	ENSP00000447378:p.Cys101Phe		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.C101F	ENST00000549489.2	37	c.302	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350802	0.61183	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	D;D;D	0.89415	-2.51;-2.51;-2.51	4.33	4.33	0.51752	P-type trefoil, conserved site (1);P-type trefoil (4);	0.000000	0.49305	D	0.000150	D	0.95573	0.8561	H	0.94503	3.545	0.42605	D	0.993298	D	0.89917	1.0	D	0.85130	0.997	D	0.96039	0.9023	10	0.87932	D	0	.	12.6238	0.56618	0.0:0.0:1.0:0.0	.	101	O43451	MGA_HUMAN	F	101	ENSP00000419372:C101F;ENSP00000447378:C101F;ENSP00000417103:C101F	ENSP00000373973:C101F	C	+	2	0	MGAM	141354949	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.603000	0.46266	2.707000	0.92482	0.655000	0.94253	TGC	MGAM	-	pfam_P_trefoil,smart_P_trefoil	ENSG00000257335		0.388	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0	70	0	G			141708480	1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	5.48	68	4	SNP	1.000	T	T	141708480	G	T	141708480	3	4	148	1	0	0	0	0	1	0	0	0	9579	1319	46	3	308	3	MGAM	7	141708480	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	101590061	141708480	17430183	76	37731											
OR2A12	346525	genome.wustl.edu	37	chr7	143793132	143793132	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaaacagagatcaatgtGaagaatcatttgagatatcc	16	11	9	5	0	2	4	2	2	0	3	3	7	3	5	1	1	1	0	1	1	5	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr7:143793132G>A	ENST00000408949.2	+	1	992	c.932G>A	c.(931-933)tGa>tAa	p.*311*		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AGATCAATGTGAAGAATCATT	0.428																																																	0													105	101	103					7																	143793132		1850	4093	5943	SO:0001819	synonymous_variant	0				CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.932G>A	7.37:g.143793132G>A			Q6IF43	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.*311	ENST00000408949.2	37	c.932	CCDS43670.1	7																																																																																			OR2A12	-	NULL	ENSG00000221858		0.428	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A12	HGNC	protein_coding	OTTHUMT00000349969.1	-	0	42	0	G			143793132	1	tier1	-	no_errors	ENST00000408949	ensembl	human	known	74_37	silent	25.81	23	8	SNP	0.071	A	A	143793132	G	A	143793132	2	1	148	1	0	0	0	0	0	0	0	1	11014	1304	45	3		3	OR2A12	7	143793132	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	2084652	143793132	15345531	77	37732											
PAXIP1	22976	genome.wustl.edu	37	chr7	154760285	154760285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgctgctgctgctgctgCtggtgcatgcgctggagctg	3	12	15	11	1	1	0	0	0	1	0	1	1	1	1	0	2	9	9	0	2	0	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr7:154760285C>G	ENST00000404141.1	-	7	1780	c.1626G>C	c.(1624-1626)caG>caC	p.Q542H	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.Q542H			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	542	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	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)		p.Q508H(1)		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)		gctgctgctgctggtgcatgc	0.627																																																	1	Substitution - Missense(1)	large_intestine(1)											13	13	13					7																	154760285		1934	3626	5560	SO:0001583	missense	0			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.1626G>C	7.37:g.154760285C>G	ENSP00000384048:p.Gln542His		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q542H	ENST00000404141.1	37	c.1626	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548436	0.27652	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000323199	T;T	0.48201	0.82;0.82	4.96	-3.3	0.05003	.	0.298320	0.23000	N	0.053095	T	0.26593	0.0650	N	0.19112	0.55	0.25352	N	0.988853	B;B;B;B	0.14012	0.001;0.009;0.002;0.001	B;B;B;B	0.12156	0.003;0.007;0.007;0.003	T	0.11991	-1.0565	10	0.45353	T	0.12	-3.9012	9.2332	0.37450	0.0:0.4209:0.4486:0.1305	.	495;451;508;542	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	H	542;542;495	ENSP00000384048:Q542H;ENSP00000380376:Q542H	ENSP00000319149:Q495H	Q	-	3	2	PAXIP1	154391218	0.712000	0.27916	0.413000	0.26509	0.911000	0.54048	0.051000	0.14141	-0.530000	0.06349	-0.357000	0.07601	CAG	PAXIP1	-	NULL	ENSG00000157212		0.627	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1		0	57	0	C	NM_007349		154760285	-1			no_errors	ENST00000397192	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.930	G	G	154760285	C	G	154760285	3	3	148	1	0	0	0	0	1	0	0	0	11526	796	28	5	1643	5	PAXIP1	7	154760285	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	10967153	154760285	4378378	78	37733											
MFHAS1	9258	genome.wustl.edu	37	chr8	8750480	8750480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cggcggtaagcgtgagctggCgcaggttgctccgcagcttc	5	8	16	12	5	0	1	0	1	0	0	2	1	1	1	1	4	4	7	1	4	1	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr8:8750480C>T	ENST00000276282.6	-	1	675	c.89G>A	c.(88-90)cGc>cAc	p.R30H	RNU6-682P_ENST00000363843.1_RNA	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	30										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)		CGTGAGCTGGCGCAGGTTGCT	0.766																																					Melanoma(103;1201 2045 17515 28966)												0													3	4	4					8																	8750480		1952	3888	5840	SO:0001583	missense	0			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.89G>A	8.37:g.8750480C>T	ENSP00000276282:p.Arg30His		Q96CI0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_typical-subtyp	p.R30H	ENST00000276282.6	37	c.89	CCDS34844.1	8	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286891	0.80803	.	.	ENSG00000147324	ENST00000276282	T	0.36699	1.24	4.53	3.65	0.41850	.	0.158566	0.41396	D	0.000882	T	0.23249	0.0562	N	0.24115	0.695	0.54753	D	0.999984	B	0.24317	0.101	B	0.15484	0.013	T	0.04333	-1.0959	10	0.45353	T	0.12	.	10.1776	0.42948	0.0:0.8997:0.0:0.1003	.	30	Q9Y4C4	MFHA1_HUMAN	H	30	ENSP00000276282:R30H	ENSP00000276282:R30H	R	-	2	0	MFHAS1	8787890	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.971000	0.70440	0.883000	0.36040	0.557000	0.71058	CGC	MFHAS1	-	NULL	ENSG00000147324		0.766	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFHAS1	HGNC	protein_coding	OTTHUMT00000374724.2		0	42	0	C	NM_004225		8750480	-1			no_errors	ENST00000276282	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	8750480	C	T	8750480	3	4	148	1	0	0	0	0	1	0	0	0	9559	768	27	1	3081	1	MFHAS1	8	8750480	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09		8750480	137613542	79	37734											
INTS10	55174	genome.wustl.edu	37	chr8	19700427	19700427	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	actgcctccatttaatgttaGcctgttttaaggtaagctta	10	16	7	8	0	0	0	0	0	0	0	1	0	1	0	3	1	3	4	3	1	5	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr8:19700427G>T	ENST00000397977.3	+	14	2106	c.1708G>T	c.(1708-1710)Gcc>Tcc	p.A570S		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	570					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)		TTTAATGTTAGCCTGTTTTAA	0.373																																																	0													140	129	133					8																	19700427		1860	4116	5976	SO:0001583	missense	0			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.1708G>T	8.37:g.19700427G>T	ENSP00000381064:p.Ala570Ser		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.A570S	ENST00000397977.3	37	c.1708	CCDS6011.2	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.565049|4.565049	0.86439|0.86439	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000397977|ENST00000520670;ENST00000523772	T|.	0.51325|.	0.71|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69486|.	0.3116|.	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.64830|.	0.994|.	P|.	0.60789|.	0.879|.	T|.	0.66320|.	-0.5953|.	9|.	.|.	.|.	.|.	-14.9538|-14.9538	17.7168|17.7168	0.88340|0.88340	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	570|.	Q9NVR2|.	INT10_HUMAN|.	S|Y	570|59;6	ENSP00000381064:A570S|.	.|.	A|X	+|+	1|3	0|2	INTS10|INTS10	19744707|19744707	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	8.992000|8.992000	0.93519|0.93519	2.512000|2.512000	0.84698|0.84698	0.655000|0.655000	0.94253|0.94253	GCC|TAG	INTS10	-	NULL	ENSG00000104613		0.373	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2		0	48	0	G	NM_018142		19700427	1			no_errors	ENST00000397977	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	19700427	G	T	19700427	3	4	148	1	0	0	0	0	1	0	0	0	7803	971	34	3	1762	3	INTS10	8	19700427	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	10949947	19700427	126663595	80	37735											
ENTPD4	9583	genome.wustl.edu	37	chr8	23290607	23290607	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacaggtagtggttgtaGacaaaggaaacgccccgcca	14	5	13	9	2	0	2	0	0	0	2	0	4	0	3	3	3	2	3	3	3	5	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr8:23290607G>T	ENST00000358689.4	-	13	1918	c.1683C>A	c.(1681-1683)gtC>gtA	p.V561V	ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Silent_p.V553V	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	561					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)		AGTGGTTGTAGACAAAGGAAA	0.602																																																	0													59	62	61					8																	23290607		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1683C>A	8.37:g.23290607G>T			D3DSS3|O15092	Silent	SNP	pfam_GDA1_CD39_NTPase	p.V561	ENST00000358689.4	37	c.1683	CCDS6041.1	8																																																																																			ENTPD4	-	NULL	ENSG00000197217		0.602	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	ENTPD4	HGNC	protein_coding	OTTHUMT00000215142.1	-	0	146	0	G	NM_004901		23290607	-1	tier1	-	no_errors	ENST00000358689	ensembl	human	known	74_37	silent	5.23	144	8	SNP	1.000	T	T	23290607	G	T	23290607	2	4	148	1	0	0	0	0	0	0	0	1	5157	929	33	3		3	ENTPD4	8	23290607	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	3590180	23290607	123073415	81	37736											
DPYSL2	1808	genome.wustl.edu	37	chr8	26505224	26505224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttcaacctttaccccCggaaaggccgcattgctgtg	9	10	9	13	2	2	0	1	0	1	0	2	1	2	1	4	2	3	2	4	2	4	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr8:26505224C>T	ENST00000311151.5	+	11	1601	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	DPYSL2_ENST00000523027.1_Missense_Mutation_p.R361W|DPYSL2_ENST00000521913.1_Missense_Mutation_p.R361W	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	397					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)		CCTTTACCCCCGGAAAGGCCG	0.547																																																	0													107	100	102					8																	26505224		2203	4300	6503	SO:0001583	missense	0			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.1189C>T	8.37:g.26505224C>T	ENSP00000309539:p.Arg397Trp		A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R397W	ENST00000311151.5	37	c.1189	CCDS6051.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.389851	0.95988	.	.	ENSG00000092964	ENST00000545637;ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.07	5.07	0.68467	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.97152	0.9832	10	0.87932	D	0	-24.5714	19.0071	0.92856	0.0:1.0:0.0:0.0	.	397;453	Q16555;Q59GB4	DPYL2_HUMAN;.	W	36;361;397;397;361	ENSP00000427985:R361W;ENSP00000309539:R397W;ENSP00000428909:R397W;ENSP00000431117:R361W	ENSP00000309539:R397W	R	+	1	2	DPYSL2	26561141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.609000	0.82925	2.793000	0.96121	0.563000	0.77884	CGG	DPYSL2	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000092964		0.547	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL2	HGNC	protein_coding	OTTHUMT00000216904.3	-	0	64	0	C	NM_001386		26505224	1	tier1	-	no_errors	ENST00000311151	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	26505224	C	T	26505224	3	4	148	1	0	0	0	0	1	0	0	0	4761	643	23	1	1231	1	DPYSL2	8	26505224	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	3214617	26505224	119858798	82	37737											
CYP7B1	9420	genome.wustl.edu	37	chr8	65528530	65528530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatagttgtaaatgtgatctCaaatattattgagctgcaga	14	15	8	4	0	1	3	1	2	1	1	2	3	1	3	0	0	2	4	0	0	7	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr8:65528530C>G	ENST00000310193.3	-	3	741	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	CYP7B1_ENST00000523954.1_5'Flank	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	190					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATGTGATCTCAAATATTATT	0.323																																																	0													50	51	51					8																	65528530		2203	4299	6502	SO:0001583	missense	0			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.568G>C	8.37:g.65528530C>G	ENSP00000310721:p.Glu190Gln		B2RN07|Q9UNF5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.E190Q	ENST00000310193.3	37	c.568	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432472	0.43224	.	.	ENSG00000172817	ENST00000310193	D	0.85258	-1.96	5.32	5.32	0.75619	.	0.138520	0.64402	D	0.000004	D	0.91102	0.7199	M	0.76002	2.32	0.41624	D	0.988982	P	0.43231	0.801	P	0.55923	0.787	D	0.90164	0.4230	9	.	.	.	-18.0458	19.3561	0.94414	0.0:1.0:0.0:0.0	.	190	O75881	CP7B1_HUMAN	Q	190	ENSP00000310721:E190Q	.	E	-	1	0	CYP7B1	65691084	1.000000	0.71417	0.996000	0.52242	0.477000	0.33069	5.068000	0.64364	2.646000	0.89796	0.655000	0.94253	GAG	CYP7B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000172817		0.323	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	-	0	76	0	C			65528530	-1	tier1	-	no_errors	ENST00000310193	ensembl	human	known	74_37	missense	12.87	88	13	SNP	1.000	G	G	65528530	C	G	65528530	3	3	148	1	0	0	0	0	1	0	0	0	4206	835	29	5	968	5	CYP7B1	8	65528530	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	39023306	65528530	80835492	83	37738											
ZFHX4	79776	genome.wustl.edu	37	chr8	77767606	77767606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgacgccaccaccggaGacgagggaaacactgaaatg	14	4	12	11	3	1	3	1	2	0	1	1	6	1	4	3	2	1	0	3	2	2	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr8:77767606G>T	ENST00000521891.2	+	10	8897	c.8449G>T	c.(8449-8451)Gac>Tac	p.D2817Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2791Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2772Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2772Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2772					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)			CACCACCGGAGACGAGGGAAA	0.468										HNSCC(33;0.089)																																							0													51	52	51					8																	77767606		1959	4154	6113	SO:0001583	missense	0				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.8449G>T	8.37:g.77767606G>T	ENSP00000430497:p.Asp2817Tyr		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.D2817Y	ENST00000521891.2	37	c.8449	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480011	0.26598	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.61158	0.13;0.19;0.16;0.15	4.98	4.98	0.66077	.	0.000000	0.45867	U	0.000325	T	0.73148	0.3550	L	0.55990	1.75	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	0.75682	-0.3233	10	0.87932	D	0	.	18.4359	0.90646	0.0:0.0:1.0:0.0	.	2772;2772;2817	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	2817;2801;2772;2772;2791	ENSP00000430497:D2817Y;ENSP00000399605:D2772Y;ENSP00000050961:D2772Y;ENSP00000430848:D2791Y	ENSP00000050961:D2772Y	D	+	1	0	ZFHX4	77930161	1.000000	0.71417	0.112000	0.21494	0.218000	0.24690	9.657000	0.98554	2.588000	0.87417	0.561000	0.74099	GAC	ZFHX4	-	NULL	ENSG00000091656		0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	42	0	G	NM_024721		77767606	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	77767606	G	T	77767606	3	4	148	1	0	0	0	0	1	0	0	0	17683	942	33	3	8483	3	ZFHX4	8	77767606	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	12239076	77767606	68596416	84	37739											
WWP1	11059	genome.wustl.edu	37	chr8	87424100	87424100	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacacagaaaccttgccatCagggtatgttaagcttttta	13	12	7	9	0	1	1	1	0	0	1	1	1	1	1	2	1	4	3	2	1	5	6			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr8:87424100C>G	ENST00000517970.1	+	9	1365	c.1058C>G	c.(1057-1059)tCa>tGa	p.S353*	WWP1_ENST00000349423.2_Nonsense_Mutation_p.S135*|WWP1_ENST00000341922.2_Nonsense_Mutation_p.S223*|WWP1_ENST00000265428.4_Nonsense_Mutation_p.S353*	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	353	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ACCTTGCCATCAGGGTATGTT	0.403																																																	0													47	45	46					8																	87424100		2203	4299	6502	SO:0001587	stop_gained	0			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.1058C>G	8.37:g.87424100C>G	ENSP00000427793:p.Ser353*		O00307|Q5YLC1|Q96BP4	Nonsense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.S353*	ENST00000517970.1	37	c.1058	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.305592	0.95601	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	.	.	.	6.07	5.2	0.72013	.	0.202992	0.42294	D	0.000730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	13.7332	0.62802	0.0:0.9292:0.0:0.0708	.	.	.	.	X	353;353;223;135	.	ENSP00000265428:S353X	S	+	2	0	WWP1	87493216	0.996000	0.38824	0.855000	0.33649	0.881000	0.50899	4.770000	0.62309	1.587000	0.49959	-0.145000	0.13849	TCA	WWP1	-	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	ENSG00000123124		0.403	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1		0	12	0	C	NM_007013		87424100	1			no_errors	ENST00000265428	ensembl	human	known	74_37	nonsense	16.67	10	2	SNP	0.992	G	G	87424100	C	G	87424100	4	3	148	1	0	0	0	0	0	1	0	0	17464	838	29	5	1084	5	WWP1	8	87424100	Nonsense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	9656494	87424100	58939922	85	37740											
VPS13B	157680	genome.wustl.edu	37	chr8	100865817	100865817	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttctctgtgtggccccGggagctggtcccctccctgg	2	13	12	14	1	1	0	0	0	1	0	4	1	3	1	5	4	1	1	5	4	0	2	rs151315104		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr8:100865817G>A	ENST00000358544.2	+	56	10386	c.10275G>A	c.(10273-10275)ccG>ccA	p.P3425P	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.P3400P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3425					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)			GTGTGGCCCCGGGAGCTGGTC	0.542																																					Colon(161;2205 2542 7338 31318)												0								A	,	0,4406		0,0,2203	67	63	64		10275,10200	-10.9	0	8	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13B	NM_017890.3,NM_152564.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	3425/4023,3400/3998	100865817	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.10275G>A	8.37:g.100865817G>A			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.P3425	ENST00000358544.2	37	c.10275	CCDS6280.1	8																																																																																			VPS13B	-	NULL	ENSG00000132549		0.542	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	-	0	48	0	G	NM_184042		100865817	1	tier1	rs151315104	no_errors	ENST00000358544	ensembl	human	known	74_37	silent	26.47	25	9	SNP	0.000	A	A	100865817	G	A	100865817	2	1	148	1	0	0	0	0	0	0	0	1	17239	1103	39	1		1	VPS13B	8	100865817	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	13441717	100865817	45498205	86	37741											
COL14A1	7373	genome.wustl.edu	37	chr8	121344398	121344398	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggccttccgggaaaggatGgatcctcgggacctccagga	9	6	15	11	2	0	0	0	0	0	0	4	5	3	5	5	6	0	0	5	6	1	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr8:121344398G>T	ENST00000297848.3	+	41	4948	c.4678G>T	c.(4678-4680)Gga>Tga	p.G1560*	COL14A1_ENST00000247781.3_Nonsense_Mutation_p.G1465*|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.G1560*	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)			GGGAAAGGATGGATCCTCGGG	0.463																																																	0													80	79	79					8																	121344398		2203	4300	6503	SO:0001587	stop_gained	0				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.4678G>T	8.37:g.121344398G>T	ENSP00000297848:p.Gly1560*			Nonsense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G1560*	ENST00000297848.3	37	c.4678	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	G	45	11.626836	0.99584	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.6259	0.76855	0.0:0.0:1.0:0.0	.	.	.	.	X	1560;1560;1465	.	ENSP00000247781:G1465X	G	+	1	0	COL14A1	121413579	1.000000	0.71417	0.786000	0.31890	0.528000	0.34623	4.955000	0.63638	2.676000	0.91093	0.655000	0.94253	GGA	COL14A1	-	pfam_Collagen	ENSG00000187955		0.463	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0	44	0	G	NM_021110		121344398	1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.992	T	T	121344398	G	T	121344398	4	4	148	1	0	0	0	0	0	1	0	0	3678	1349	47	3	4836	3	COL14A1	8	121344398	Nonsense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	20478581	121344398	25019624	87	37742											
FAM135B	51059	genome.wustl.edu	37	chr8	139164797	139164797	+	Missense_Mutation	SNP	A	A	T	1	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	ggtagaacttagtggatcacAgggctcagagggggtgagtt	10	9	17	5	0	2	3	2	1	0	2	2	4	2	4	0	5	1	3	0	5	3	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr8:139164797A>T	ENST00000395297.1	-	13	2091	c.1921T>A	c.(1921-1923)Tgt>Agt	p.C641S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	641										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)			AGTGGATCACAGGGCTCAGAG	0.478										HNSCC(54;0.14)																																							0													92	93	93					8																	139164797		1882	4121	6003	SO:0001583	missense	0			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.1921T>A	8.37:g.139164797A>T	ENSP00000378710:p.Cys641Ser		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.C641S	ENST00000395297.1	37	c.1921	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	A	10.04	1.241514	0.22711	.	.	ENSG00000147724	ENST00000395297	T	0.13307	2.6	5.51	1.89	0.25635	.	0.750110	0.13009	N	0.420982	T	0.16896	0.0406	M	0.67953	2.075	0.09310	N	1	P;P;B	0.40731	0.728;0.557;0.148	P;B;B	0.44359	0.447;0.372;0.027	T	0.15607	-1.0431	10	0.15499	T	0.54	-1.6814	7.4042	0.26981	0.5885:0.329:0.0825:0.0	.	641;641;641	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	S	641	ENSP00000378710:C641S	ENSP00000276737:C641S	C	-	1	0	FAM135B	139233979	0.000000	0.05858	0.564000	0.28396	0.102000	0.19082	0.818000	0.27295	0.377000	0.24735	0.533000	0.62120	TGT	FAM135B	-	NULL	ENSG00000147724		0.478	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	103	0	A	NM_015912		139164797	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	15.38	88	16	SNP	0.000	T	T	139164797	A	T	139164797	3	4	148	1	0	0	0	0	1	0	0	0	5468	188	7	5	2331	5	FAM135B	8	139164797	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	17820399	139164797	7199225	88	37743											
BAI1	575	genome.wustl.edu	37	chr8	143602279	143602279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgggcagacccagacccGcaacaaggtaggcagccttg	11	4	12	14	2	0	2	0	0	0	2	1	2	0	2	3	3	2	4	3	3	3	2	rs374047873		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr8:143602279G>A	ENST00000517894.1	+	20	3911	c.3017G>A	c.(3016-3018)cGc>cAc	p.R1006H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1006H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1006					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)					ACCCAGACCCGCAACAAGGTA	0.597																																																	0								G	HIS/ARG	0,4342		0,0,2171	112	117	116		3017	2.9	1	8		116	1,8525		0,1,4262	no	missense	BAI1	NM_001702.2	29	0,1,6433	AA,AG,GG		0.0117,0.0,0.0078	benign	1006/1585	143602279	1,12867	2171	4263	6434	SO:0001583	missense	0			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.3017G>A	8.37:g.143602279G>A	ENSP00000430945:p.Arg1006His			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R1006H	ENST00000517894.1	37	c.3017		8	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737299	0.30774	0.0	1.17E-4	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.37058	1.22;1.22	2.86	2.86	0.33363	.	0.428735	0.18894	U	0.128228	T	0.21761	0.0524	N	0.02916	-0.46	0.43632	D	0.996026	P	0.43477	0.808	P	0.46389	0.515	T	0.15492	-1.0435	10	0.39692	T	0.17	.	12.7427	0.57261	0.0:0.0:1.0:0.0	.	1006	E9PBK0	.	H	1006	ENSP00000430945:R1006H;ENSP00000313046:R1006H	ENSP00000313046:R1006H	R	+	2	0	BAI1	143599281	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.455000	0.60075	1.406000	0.46857	0.446000	0.29264	CGC	BAI1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000181790		0.597	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	-	0	32	0	G	NM_001702		143602279	1	tier1	-	no_errors	ENST00000323289	ensembl	human	known	74_37	missense	31.82	15	7	SNP	1.000	A	A	143602279	G	A	143602279	3	1	148	1	0	0	0	0	1	0	0	0	1299	1087	38	1	3091	1	BAI1	8	143602279	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	4437482	143602279	2761743	89	37744											
ARHGAP39	80728	genome.wustl.edu	37	chr8	145759580	145759580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggcatacgtgcttatcGccacccctggaaaggaaagg	11	8	11	11	2	0	0	0	0	0	0	1	2	0	2	3	4	2	2	3	4	4	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr8:145759580G>A	ENST00000276826.5	-	6	2729	c.2528C>T	c.(2527-2529)gCg>gTg	p.A843V	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.A874V|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.A843V			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	843	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGTGCTTATCGCCACCCCTGG	0.642																																																	0													98	92	94					8																	145759580		2203	4300	6503	SO:0001583	missense	0				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2528C>T	8.37:g.145759580G>A	ENSP00000276826:p.Ala843Val		B4E1I1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom	p.A874V	ENST00000276826.5	37	c.2621		8	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750905	0.89753	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	D;T;D	0.92048	-2.96;-0.11;-2.96	4.54	4.54	0.55810	MyTH4 domain (2);	0.201492	0.42172	D	0.000754	D	0.93779	0.8011	L	0.47716	1.5	0.42499	D	0.992924	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.926	D	0.94511	0.7718	10	0.66056	D	0.02	-22.4669	14.7964	0.69881	0.0:0.0:1.0:0.0	.	843;874	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	V	843;874;843	ENSP00000276826:A843V;ENSP00000366522:A874V;ENSP00000445075:A843V	ENSP00000276826:A843V	A	-	2	0	ARHGAP39	145730388	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.952000	0.87827	2.094000	0.63399	0.455000	0.32223	GCG	ARHGAP39	-	pfscan_MyTH4_dom	ENSG00000147799		0.642	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	ARHGAP39	HGNC	protein_coding	OTTHUMT00000382509.1	-	0	74	0	G			145759580	-1	tier1	-	no_errors	ENST00000377307	ensembl	human	known	74_37	missense	8.08	91	8	SNP	1.000	A	A	145759580	G	A	145759580	3	1	148	1	0	0	0	0	1	0	0	0	884	1087	38	1	743	1	ARHGAP39	8	145759580	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	2157301	145759580	604442	90	37745											
PTPRD	5789	genome.wustl.edu	37	chr9	8486299	8486299	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggagggtgccactgaataaGagcagtattcatctgagtgt	11	10	13	7	1	2	3	1	2	1	1	2	4	2	4	1	2	2	2	1	2	3	3	rs142009246	byFrequency	TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr9:8486299G>C	ENST00000381196.4	-	25	3061	c.2518C>G	c.(2518-2520)Ctt>Gtt	p.L840V	PTPRD_ENST00000360074.4_Missense_Mutation_p.L827V|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L840V|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000358503.5_Missense_Mutation_p.L818V|PTPRD_ENST00000356435.5_Missense_Mutation_p.L840V|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	840	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTGAATAAGAGCAGTATTC	0.488										TSP Lung(15;0.13)																																							0													75	73	74					9																	8486299		2203	4300	6503	SO:0001583	missense	0			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.2518C>G	9.37:g.8486299G>C	ENSP00000370593:p.Leu840Val		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.L840V	ENST00000381196.4	37	c.2518	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663882	0.47572	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.61703	1.905	0.80722	D	1	B;D;B	0.76494	0.292;0.999;0.195	B;D;B	0.80764	0.101;0.994;0.192	T	0.67681	-0.5608	9	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	827;840;840	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	V	840;840;827;818;840	ENSP00000370593:L840V;ENSP00000348812:L840V;ENSP00000353187:L827V;ENSP00000351293:L818V;ENSP00000438164:L840V	.	L	-	1	0	PTPRD	8476299	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.297000	0.72757	2.826000	0.97356	0.655000	0.94253	CTT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.488	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	58	0	G			8486299	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	C	C	8486299	G	C	8486299	3	2	148	1	0	0	0	0	1	0	0	0	12844	942	33	5	3364	5	PTPRD	9	8486299	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		8486299	132727132	91	37746											
DDX58	23586	genome.wustl.edu	37	chr9	32457349	32457349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaacttgaaaactgctttGgcttgggatgtggtctactc	10	13	10	8	0	1	1	0	1	1	0	2	2	1	2	0	3	4	2	0	3	5	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr9:32457349G>T	ENST00000379883.2	-	18	2706	c.2549C>A	c.(2548-2550)cCa>cAa	p.P850Q	DDX58_ENST00000379868.1_Missense_Mutation_p.P647Q|DDX58_ENST00000542096.1_Missense_Mutation_p.P779Q|DDX58_ENST00000379882.1_Missense_Mutation_p.P805Q	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	850	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)		AAACTGCTTTGGCTTGGGATG	0.423																																																	0													87	80	82					9																	32457349		2203	4300	6503	SO:0001583	missense	0			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.2549C>A	9.37:g.32457349G>T	ENSP00000369213:p.Pro850Gln		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P850Q	ENST00000379883.2	37	c.2549	CCDS6526.1	9	.	.	.	.	.	.	.	.	.	.	G	8.976	0.974150	0.18736	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.83	4.88	0.63580	C-terminal domain of RIG-I (1);	0.256218	0.33419	N	0.004938	T	0.38746	0.1052	L	0.48877	1.53	0.80722	D	1	P;P	0.42692	0.454;0.787	B;B	0.41894	0.173;0.369	T	0.08411	-1.0723	10	0.25751	T	0.34	-10.7486	14.6651	0.68901	0.0:0.0:0.854:0.146	.	779;850	B3KWW1;O95786	.;DDX58_HUMAN	Q	805;850;647;779	ENSP00000369212:P805Q;ENSP00000369213:P850Q;ENSP00000369197:P647Q;ENSP00000442160:P779Q	ENSP00000369197:P647Q	P	-	2	0	DDX58	32447349	0.997000	0.39634	0.836000	0.33094	0.215000	0.24574	3.318000	0.51975	2.759000	0.94783	0.650000	0.86243	CCA	DDX58	-	pfam_RIG-I_C-RD	ENSG00000107201		0.423	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX58	HGNC	protein_coding	OTTHUMT00000052011.1		0	60	0	G	NM_014314		32457349	-1			no_errors	ENST00000379883	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.970	T	T	32457349	G	T	32457349	3	4	148	1	0	0	0	0	1	0	0	0	4384	1348	47	3	232	3	DDX58	9	32457349	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	23971050	32457349	108756082	92	37747											
CRB2	286204	genome.wustl.edu	37	chr9	126133391	126133391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgggaggcgccccaagctCtgcctcctttctgctccaag	5	10	10	16	1	2	0	0	0	2	0	4	1	4	1	5	2	3	2	5	2	2	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr9:126133391C>T	ENST00000373631.3	+	8	1971	c.1970C>T	c.(1969-1971)tCt>tTt	p.S657F	CRB2_ENST00000373629.2_Missense_Mutation_p.S325F|CRB2_ENST00000359999.3_Missense_Mutation_p.S657F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	657	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCCCCAAGCTCTGCCTCCTTT	0.607																																																	0													90	100	97					9																	126133391		2203	4300	6503	SO:0001583	missense	0			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.1970C>T	9.37:g.126133391C>T	ENSP00000362734:p.Ser657Phe		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S657F	ENST00000373631.3	37	c.1970	CCDS6852.2	9	.	.	.	.	.	.	.	.	.	.	.	0.547	-0.851005	0.02651	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.79749	-1.3;-1.3;-1.3	5.05	2.83	0.33086	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.002780	0.08041	N	0.995128	T	0.63510	0.2517	N	0.20986	0.625	0.09310	N	0.999999	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.50065	-0.8871	10	0.10111	T	0.7	.	3.7787	0.08671	0.1913:0.5268:0.0:0.2819	.	657;657	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	F	657;657;325	ENSP00000353092:S657F;ENSP00000362734:S657F;ENSP00000362732:S325F	ENSP00000353092:S657F	S	+	2	0	CRB2	125173212	0.047000	0.20315	0.869000	0.34112	0.041000	0.13682	0.300000	0.19156	1.123000	0.41961	-0.311000	0.09066	TCT	CRB2	-	superfamily_ConA-like_lec_gl_sf	ENSG00000148204		0.607	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB2	HGNC	protein_coding	OTTHUMT00000053990.3	-	0	43	0	C	NM_173689		126133391	1	tier1	-	no_errors	ENST00000373631	ensembl	human	known	74_37	missense	28.57	20	8	SNP	0.132	T	T	126133391	C	T	126133391	3	4	148	1	0	0	0	0	1	0	0	0	3856	913	32	3	2000	3	CRB2	9	126133391	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	93676042	126133391	15080040	93	37748											
WDR5	11091	genome.wustl.edu	37	chr9	137013436	137013436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatcgtgatggatccttGatagtttcaagtagctatga	11	16	9	5	1	1	3	1	3	0	0	3	4	2	4	1	1	1	3	1	1	5	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr9:137013436G>T	ENST00000358625.3	+	8	726	c.555G>T	c.(553-555)ttG>ttT	p.L185F	WDR5_ENST00000425041.1_Missense_Mutation_p.L185F	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	185					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)		p.L185F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ATGGATCCTTGATAGTTTCAA	0.408																																																	1	Substitution - Missense(1)	lung(1)											214	199	204					9																	137013436		2203	4300	6503	SO:0001583	missense	0			AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"WD repeat domain containing"	12757	protein-coding gene	gene with protein product	"SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)", "cilia and flagella associated protein 89"	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.555G>T	9.37:g.137013436G>T	ENSP00000351446:p.Leu185Phe		Q91VA5|Q9NWX7|Q9UGP9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L185F	ENST00000358625.3	37	c.555	CCDS6981.1	9	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591359	0.66219	.	.	ENSG00000196363	ENST00000358625;ENST00000425041	T;T	0.61274	0.12;0.12	3.54	3.54	0.40534	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000016	T	0.64271	0.2583	L	0.41632	1.29	0.80722	D	1	D	0.67145	0.996	D	0.73380	0.98	T	0.64964	-0.6283	10	0.52906	T	0.07	.	10.3276	0.43803	0.0:0.2014:0.7986:0.0	.	185	P61964	WDR5_HUMAN	F	185	ENSP00000351446:L185F;ENSP00000401889:L185F	ENSP00000351446:L185F	L	+	3	2	WDR5	136003257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.868000	0.56055	1.712000	0.51347	0.543000	0.68304	TTG	WDR5	-	pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000196363		0.408	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR5	HGNC	protein_coding	OTTHUMT00000254621.1		0	75	0	G	NM_052821		137013436	1			no_errors	ENST00000358625	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	137013436	G	T	137013436	3	4	148	1	0	0	0	0	1	0	0	0	17352	1281	45	3	581	3	WDR5	9	137013436	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	10880045	137013436	4199995	94	37749											
FRMD4A	55691	genome.wustl.edu	37	chr10	13696433	13696433	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacccagtctgccaggttagGatgtggtgggggctgcttgg	5	10	17	9	0	1	0	0	0	1	0	1	1	1	1	2	6	2	3	2	6	1	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr10:13696433G>T	ENST00000357447.2	-	23	3401	c.3033C>A	c.(3031-3033)atC>atA	p.I1011I	FRMD4A_ENST00000378503.1_Silent_p.I1011I|FRMD4A_ENST00000358621.4_Silent_p.I996I	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1011					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						GCCAGGTTAGGATGTGGTGGG	0.517																																																	0													80	77	78					10																	13696433		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3033C>A	10.37:g.13696433G>T			A7E2Y3|Q5T377	Silent	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.I1011	ENST00000357447.2	37	c.3033	CCDS7101.1	10																																																																																			FRMD4A	-	NULL	ENSG00000151474		0.517	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	-	0	69	0	G	NM_018027		13696433	-1	tier1	-	no_errors	ENST00000357447	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	T	T	13696433	G	T	13696433	2	4	148	1	0	0	0	0	0	0	0	1	6075	1164	41	3		3	FRMD4A	10	13696433	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		13696433	121838314	95	37750											
C10orf140	387640	genome.wustl.edu	37	chr10	21805228	21805228	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctttgacactactcttGaggtcgggaagtctgccggc	6	11	12	12	3	2	2	0	2	2	0	4	3	3	3	2	3	2	1	2	3	2	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr10:21805228G>T	ENST00000449193.2	-	4	3776	c.1524C>A	c.(1522-1524)ctC>ctA	p.L508L	SKIDA1_ENST00000444772.3_Silent_p.L429L	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	427						nucleus (GO:0005634)											CACTACTCTTGAGGTCGGGAA	0.637																																																	0													39	43	42					10																	21805228		1938	4152	6090	SO:0001819	synonymous_variant	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1524C>A	10.37:g.21805228G>T			B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.L508	ENST00000449193.2	37	c.1524	CCDS44363.1	10																																																																																			SKIDA1	-	NULL	ENSG00000180592		0.637	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2		0	79	0	G	NM_207371		21805228	-1			no_errors	ENST00000449193	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T	T	21805228	G	T	21805228	2	4	148	1	0	0	0	0	0	0	0	1	1600	1277	45	3		3	C10orf140	10	21805228	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	8108795	21805228	113729519	96	37751											
CXCL12	6387	genome.wustl.edu	37	chr10	44871398	44871398	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagataactagtttttccTtttctgggcagcctttctct	6	17	8	10	0	2	1	0	0	2	1	4	1	3	1	2	2	2	3	2	2	2	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr10:44871398T>C	ENST00000374429.2	-	4	353				CXCL12_ENST00000496375.1_5'Flank|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374426.2_Missense_Mutation_p.R117G|AL137026.1_ENST00000593376.1_5'Flank	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12						adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	TAGTTTTTCCTTTTCTGGGCA	0.458																																																	0													307	307	307					10																	44871398		2203	4298	6501	SO:0001627	intron_variant	0			L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"Endogenous ligands"	10672	protein-coding gene	gene with protein product		600835	"stromal cell-derived factor 1"	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.267-2607A>G	10.37:g.44871398T>C			B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R117G	ENST00000374429.2	37	c.349	CCDS44373.1	10	.	.	.	.	.	.	.	.	.	.	T	10.54	1.379462	0.24944	.	.	ENSG00000107562	ENST00000374426	T	0.25749	1.78	5.4	4.26	0.50523	.	.	.	.	.	T	0.20047	0.0482	.	.	.	0.80722	D	1	B	0.19817	0.039	B	0.16289	0.015	T	0.07501	-1.0769	8	0.66056	D	0.02	.	7.4273	0.27107	0.0:0.0958:0.0:0.9042	.	117	P48061-3	.	G	117	ENSP00000363548:R117G	ENSP00000363548:R117G	R	-	1	2	CXCL12	44191404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.184000	0.42575	2.175000	0.68902	0.533000	0.62120	AGG	CXCL12	-	NULL	ENSG00000107562		0.458	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CXCL12	HGNC	protein_coding	OTTHUMT00000047738.2	-	0	102	0	T	NM_000609		44871398	-1	tier1	-	no_errors	ENST00000374426	ensembl	human	known	74_37	missense	24.73	70	23	SNP	1.000	C	C	44871398	T	C	44871398	1	2	148	0	1	0	0	0	0	0	0	0	4089	1608	56	4		4	CXCL12	10	44871398	Intron	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09	23066170	44871398	90663349	97	37752											
UBE2D1	7321	genome.wustl.edu	37	chr10	60124623	60124623	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaatggtcaccagctctGactgtatcaaaaggtaattt	13	12	7	9	0	4	1	3	1	1	0	4	1	4	1	1	2	1	3	1	2	5	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr10:60124623G>T	ENST00000373910.4	+	5	518	c.291G>T	c.(289-291)ctG>ctT	p.L97L		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	97					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						CACCAGCTCTGACTGTATCAA	0.333																																																	0													149	138	142					10																	60124623		2203	4300	6503	SO:0001819	synonymous_variant	0			BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"Ubiquitin-conjugating enzymes E2"	12474	protein-coding gene	gene with protein product		602961	"stimulator of Fe transport", "ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.291G>T	10.37:g.60124623G>T			A6NLF6|A8K786	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L97	ENST00000373910.4	37	c.291	CCDS7252.1	10																																																																																			UBE2D1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000072401		0.333	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2D1	HGNC	protein_coding	OTTHUMT00000048143.2	-	0	65	0	G	NM_003338		60124623	1	tier1	-	no_errors	ENST00000373910	ensembl	human	known	74_37	silent	5.88	80	5	SNP	1.000	T	T	60124623	G	T	60124623	2	4	148	1	0	0	0	0	0	0	0	1	16897	1277	45	3		3	UBE2D1	10	60124623	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	15253225	60124623	75410124	98	37753											
LRRTM3	347731	genome.wustl.edu	37	chr10	68687289	68687289	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtctttgctggcatgatCagactcaaagaacttcacct	12	12	7	10	0	4	3	3	1	1	2	4	3	4	3	1	1	2	2	1	1	3	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr10:68687289C>T	ENST00000361320.4	+	2	1193	c.615C>T	c.(613-615)atC>atT	p.I205I	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	205					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTGGCATGATCAGACTCAAAG	0.478																																																	0													99	101	101					10																	68687289		2203	4300	6503	SO:0001819	synonymous_variant	0			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.615C>T	10.37:g.68687289C>T			A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.I205	ENST00000361320.4	37	c.615	CCDS7270.1	10																																																																																			LRRTM3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000198739		0.478	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2	-	0	31	0	C	NM_178011		68687289	1	tier1	-	no_errors	ENST00000361320	ensembl	human	known	74_37	silent	25.00	24	8	SNP	1.000	T	T	68687289	C	T	68687289	2	4	148	1	0	0	0	0	0	0	0	1	9076	816	29	3		3	LRRTM3	10	68687289	Silent	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	8562666	68687289	66847458	99	37754											
LRIT2	340745	genome.wustl.edu	37	chr10	85984470	85984470	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaggctggccagttcaggaAgacactcttggatacaactg	11	9	12	9	0	2	1	1	0	1	1	2	3	2	3	1	4	2	3	1	4	4	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr10:85984470A>T	ENST00000372113.4	-	2	516	c.511T>A	c.(511-513)Ttc>Atc	p.F171I	LRIT2_ENST00000538192.1_Missense_Mutation_p.F171I	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	171						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CAGTTCAGGAAGACACTCTTG	0.542																																																	0													72	67	69					10																	85984470		2203	4300	6503	SO:0001583	missense	0				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.511T>A	10.37:g.85984470A>T	ENSP00000361185:p.Phe171Ile		B7ZME6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F171I	ENST00000372113.4	37	c.511	CCDS31234.1	10	.	.	.	.	.	.	.	.	.	.	A	18.82	3.705877	0.68615	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.57752	0.38;0.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71790	-0.4486	10	0.45353	T	0.12	.	15.8048	0.78491	1.0:0.0:0.0:0.0	.	171;171	B7ZME6;A6NDA9	.;LRIT2_HUMAN	I	171	ENSP00000361185:F171I;ENSP00000438264:F171I	ENSP00000361185:F171I	F	-	1	0	LRIT2	85974450	1.000000	0.71417	0.997000	0.53966	0.244000	0.25665	9.053000	0.93860	2.371000	0.80710	0.533000	0.62120	TTC	LRIT2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000204033		0.542	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	-	0	54	0	A	XM_291697		85984470	-1	tier1	-	no_errors	ENST00000538192	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	85984470	A	T	85984470	3	4	148	1	0	0	0	0	1	0	0	0	8983	72	3	5	1149	5	LRIT2	10	85984470	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	17297181	85984470	49550277	100	37755											
BTAF1	9044	genome.wustl.edu	37	chr10	93744056	93744056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgttccattcacacgaatGcagaatgaatgtaaacaact	15	9	7	10	2	1	2	1	1	0	1	2	3	2	2	2	0	3	3	2	0	6	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr10:93744056G>T	ENST00000265990.6	+	19	2630	c.2322G>T	c.(2320-2322)atG>atT	p.M774I	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	774					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCACACGAATGCAGAATGAAT	0.353																																																	0													102	90	94					10																	93744056		2202	4300	6502	SO:0001583	missense	0			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2322G>T	10.37:g.93744056G>T	ENSP00000265990:p.Met774Ile		B4E0W6|O43578	Missense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M774I	ENST00000265990.6	37	c.2322	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047453	0.55110	.	.	ENSG00000095564	ENST00000265990	D	0.89415	-2.51	5.67	5.67	0.87782	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91389	0.7283	M	0.68952	2.095	0.80722	D	1	P;P	0.38788	0.647;0.647	P;P	0.46718	0.525;0.525	D	0.89693	0.3899	10	0.36615	T	0.2	-12.32	19.7677	0.96349	0.0:0.0:1.0:0.0	.	774;774	Q2M1V9;O14981	.;BTAF1_HUMAN	I	774	ENSP00000265990:M774I	ENSP00000265990:M774I	M	+	3	0	BTAF1	93734036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.668000	0.90789	0.650000	0.86243	ATG	BTAF1	-	pfam_DUF3535,superfamily_ARM-type_fold	ENSG00000095564		0.353	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	-	0	51	0	G	NM_003972		93744056	1	tier1	-	no_errors	ENST00000265990	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	93744056	G	T	93744056	3	4	148	1	0	0	0	0	1	0	0	0	1540	1319	46	3	2396	3	BTAF1	10	93744056	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	7759586	93744056	41790691	101	37756											
GOLGA7B	401647	genome.wustl.edu	37	chr10	99619286	99619286	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatccagagagactacagCgatgggaccatctgtcagtt	11	11	10	9	1	2	2	1	0	1	2	3	5	3	3	2	1	2	1	2	1	2	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr10:99619286C>T	ENST00000370602.1	+	2	149	c.84C>T	c.(82-84)agC>agT	p.S28S		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	28						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						GAGACTACAGCGATGGGACCA	0.577																																																	0													84	78	80					10																	99619286		2203	4300	6503	SO:0001819	synonymous_variant	0			BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"chromosome 10 open reading frame 133", "chromosome 10 open reading frame 132", "golgi autoantigen, golgin subfamily a, 7B"	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.84C>T	10.37:g.99619286C>T			Q5T4F5	Silent	SNP	pfam_Golgin_A_7/ERF4	p.S28	ENST00000370602.1	37	c.84	CCDS31265.1	10																																																																																			GOLGA7B	-	pfam_Golgin_A_7/ERF4	ENSG00000155265		0.577	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA7B	HGNC	protein_coding	OTTHUMT00000049752.1	-	0	54	0	C	NM_001010917		99619286	1	tier1	-	no_errors	ENST00000370602	ensembl	human	known	74_37	silent	31.25	44	20	SNP	0.992	T	T	99619286	C	T	99619286	2	4	148	1	0	0	0	0	0	0	0	1	6588	767	27	1		1	GOLGA7B	10	99619286	Silent	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	5875230	99619286	35915461	102	37757											
NOLC1	9221	genome.wustl.edu	37	chr10	103919295	103919295	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccagtgacgaggaagagGagcaaaaaaaacccatgaaa	19	3	10	9	1	0	3	0	2	0	1	1	6	1	5	3	2	2	1	3	2	6	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr10:103919295G>T	ENST00000605788.1	+	7	1064	c.829G>T	c.(829-831)Gag>Tag	p.E277*	NOLC1_ENST00000488254.2_Nonsense_Mutation_p.E278*|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000405356.1_Nonsense_Mutation_p.E287*	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	277	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				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)		CGAGGAAGAGGAGCAAAAAAA	0.527																																																	0													105	115	112					10																	103919295		2203	4300	6503	SO:0001587	stop_gained	0			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.829G>T	10.37:g.103919295G>T	ENSP00000474710:p.Glu277*		Q15030|Q5VV70|Q9BUV3	Nonsense_Mutation	SNP	pfam_SRP40_C,pfscan_LisH_dimerisation	p.E287*	ENST00000605788.1	37	c.859	CCDS7530.1	10	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622439	0.28889	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	.	.	.	5.97	-0.761	0.11038	.	0.461581	0.21708	N	0.070315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-3.6745	14.3563	0.66740	0.0617:0.5635:0.3748:0.0	.	.	.	.	X	287;277	.	ENSP00000359024:E277X	E	+	1	0	NOLC1	103909285	0.863000	0.29885	0.111000	0.21465	0.040000	0.13550	0.714000	0.25808	-0.097000	0.12307	-0.150000	0.13652	GAG	NOLC1	-	NULL	ENSG00000166197		0.527	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	HGNC	protein_coding	OTTHUMT00000050012.2	-	0	40	0	G	NM_004741		103919295	1	tier1	-	no_errors	ENST00000405356	ensembl	human	known	74_37	nonsense	32.50	27	13	SNP	0.673	T	T	103919295	G	T	103919295	4	4	148	1	0	0	0	0	0	1	0	0	10568	1175	41	3	855	3	NOLC1	10	103919295	Nonsense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	4300009	103919295	31615452	103	37758											
C10orf84	63877	genome.wustl.edu	37	chr10	120085671	120085671	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccttttgactcacctctcGagtagctagctggttgctga	7	13	9	12	1	2	2	1	2	1	0	3	3	2	2	2	1	3	5	2	1	2	5			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr10:120085671G>A	ENST00000369183.4	-	7	797	c.538C>T	c.(538-540)Cga>Tga	p.R180*	FAM204A_ENST00000369172.4_Nonsense_Mutation_p.R180*|FAM204A_ENST00000469758.1_5'UTR	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	180								p.R180R(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						CTCACCTCTCGAGTAGCTAGC	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											107	104	105					10																	120085671		2203	4300	6503	SO:0001587	stop_gained	0			AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 84"	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.538C>T	10.37:g.120085671G>A	ENSP00000358183:p.Arg180*		D3DRC6|Q5T373|Q9H5V5	Nonsense_Mutation	SNP	NULL	p.R180*	ENST00000369183.4	37	c.538	CCDS7605.1	10	.	.	.	.	.	.	.	.	.	.	G	38	7.235534	0.98154	.	.	ENSG00000165669	ENST00000369183;ENST00000369172	.	.	.	5.72	4.81	0.61882	.	0.062204	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6837	16.4299	0.83839	0.0:0.0:0.8674:0.1326	.	.	.	.	X	180	.	ENSP00000358170:R180X	R	-	1	2	FAM204A	120075661	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.700000	0.91322	1.548000	0.49413	0.650000	0.86243	CGA	FAM204A	-	NULL	ENSG00000165669		0.348	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM204A	HGNC	protein_coding	OTTHUMT00000050596.2	-	0	82	0	G	NM_022063		120085671	-1	tier1	-	no_errors	ENST00000369172	ensembl	human	known	74_37	nonsense	21.51	73	20	SNP	1.000	A	A	120085671	G	A	120085671	4	1	148	1	0	0	0	0	0	1	0	0	1626	1066	37	1	175	1	C10orf84	10	120085671	Nonsense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	16166376	120085671	15449076	104	37759											
GPR26	2849	genome.wustl.edu	37	chr10	125426476	125426476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctcagcttcctgctctccTtcgtcgtgctctgctgcacg	2	14	8	17	3	3	0	1	0	3	0	8	0	4	0	2	0	5	5	2	0	0	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr10:125426476T>C	ENST00000284674.1	+	1	606	c.553T>C	c.(553-555)Ttc>Ctc	p.F185L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	185					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCTGCTCTCCTTCGTCGTGCT	0.642																																																	0													36	27	30					10																	125426476		2203	4299	6502	SO:0001583	missense	0				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.553T>C	10.37:g.125426476T>C	ENSP00000284674:p.Phe185Leu		Q2M2E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F185L	ENST00000284674.1	37	c.553	CCDS7636.1	10	.	.	.	.	.	.	.	.	.	.	T	0.036	-1.306569	0.01353	.	.	ENSG00000154478	ENST00000284674	T	0.32988	1.43	4.02	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.124528	0.53938	D	0.000049	T	0.07638	0.0192	N	0.01091	-1.02	0.36456	D	0.866409	B	0.09022	0.002	B	0.14023	0.01	T	0.28138	-1.0053	10	0.05525	T	0.97	-35.956	6.172	0.20422	0.0:0.2705:0.0:0.7295	.	185	Q8NDV2	GPR26_HUMAN	L	185	ENSP00000284674:F185L	ENSP00000284674:F185L	F	+	1	0	GPR26	125416466	1.000000	0.71417	0.996000	0.52242	0.132000	0.20833	1.419000	0.34793	0.600000	0.29862	-0.256000	0.11100	TTC	GPR26	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000154478		0.642	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR26	HGNC	protein_coding	OTTHUMT00000050850.1	-	0	38	0	T			125426476	1	tier1	-	no_errors	ENST00000284674	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	C	C	125426476	T	C	125426476	3	2	148	1	0	0	0	0	1	0	0	0	6710	1609	56	4	555	4	GPR26	10	125426476	Missense_Mutation	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09	5340805	125426476	10108271	105	37760											
PHLDA2	7262	genome.wustl.edu	37	chr11	2950495	2950495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaacaggctcaggcggtCggaggtgagcaccccgcgct	7	4	18	12	4	1	1	1	1	0	0	2	3	1	3	2	7	2	3	2	7	1	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr11:2950495C>A	ENST00000314222.4	-	1	190	c.100G>T	c.(100-102)Gac>Tac	p.D34Y		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	34	PH.				apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		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;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCAGGCGGTCGGAGGTGAGC	0.662																																																	0													20	22	21					11																	2950495		2196	4297	6493	SO:0001583	missense	0			AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"Pleckstrin homology (PH) domain containing"	12385	protein-coding gene	gene with protein product		602131	"tumor suppressing subtransferable candidate 3"	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.100G>T	11.37:g.2950495C>A	ENSP00000319231:p.Asp34Tyr		O00496	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology	p.D34Y	ENST00000314222.4	37	c.100	CCDS7741.1	11	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903455	0.92035	.	.	ENSG00000181649	ENST00000314222	T	0.52526	0.66	3.51	3.51	0.40186	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	U	0.000000	T	0.67646	0.2915	M	0.74258	2.255	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.74405	-0.3676	10	0.87932	D	0	-26.7573	15.3955	0.74790	0.0:1.0:0.0:0.0	.	34	Q53GA4	PHLA2_HUMAN	Y	34	ENSP00000319231:D34Y	ENSP00000319231:D34Y	D	-	1	0	PHLDA2	2907071	1.000000	0.71417	0.981000	0.43875	0.934000	0.57294	6.786000	0.75094	1.660000	0.50760	0.313000	0.20887	GAC	PHLDA2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology	ENSG00000181649		0.662	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDA2	HGNC	protein_coding	OTTHUMT00000030116.1	-	0	27	0	C	NM_003311		2950495	-1	tier1	-	no_errors	ENST00000314222	ensembl	human	known	74_37	missense	41.67	7	5	SNP	1.000	A	A	2950495	C	A	2950495	3	1	148	1	0	0	0	0	1	0	0	0	11888	884	31	2	362	2	PHLDA2	11	2950495	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09		2950495	132056021	106	37761											
OR4X2	119764	genome.wustl.edu	37	chr11	48266938	48266938	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcatggcacagcttttcTtcttgcacttctttggtggc	4	16	10	11	0	3	0	0	0	3	0	3	0	3	0	0	3	3	5	0	3	0	6			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr11:48266938T>G	ENST00000302329.3	+	1	331	c.283T>G	c.(283-285)Ttc>Gtc	p.F95V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACAGCTTTTCTTCTTGCACTT	0.517																																																	0													122	116	118					11																	48266938		2201	4298	6499	SO:0001583	missense	0			AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.283T>G	11.37:g.48266938T>G	ENSP00000307751:p.Phe95Val		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F95V	ENST00000302329.3	37	c.283	CCDS31486.1	11	.	.	.	.	.	.	.	.	.	.	T	4.840	0.156215	0.09236	.	.	ENSG00000172208	ENST00000302329	T	0.00500	6.96	5.37	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.00784	0.0026	L	0.42008	1.315	0.28285	N	0.923803	D	0.69078	0.997	P	0.62813	0.907	T	0.49735	-0.8908	10	0.09338	T	0.73	.	9.8965	0.41322	0.1529:0.0:0.0:0.8471	.	95	Q8NGF9	OR4X2_HUMAN	V	95	ENSP00000307751:F95V	ENSP00000307751:F95V	F	+	1	0	OR4X2	48223514	0.000000	0.05858	0.537000	0.28052	0.132000	0.20833	-0.688000	0.05150	0.848000	0.35191	0.528000	0.53228	TTC	OR4X2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000172208		0.517	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X2	HGNC	protein_coding	OTTHUMT00000383376.2	-	0	83	0	T	NM_001004727		48266938	1	tier1	-	no_errors	ENST00000302329	ensembl	human	known	74_37	missense	21.82	86	24	SNP	0.894	G	G	48266938	T	G	48266938	3	3	148	1	0	0	0	0	1	0	0	0	11124	1609	56	4	285	4	OR4X2	11	48266938	Missense_Mutation	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09	45316443	48266938	86739578	107	37762											
GLYATL2	219970	genome.wustl.edu	37	chr11	58602155	58602155	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatcacaatccaagagacaAgctggccctctggacccagc	12	5	8	16	0	2	1	1	0	1	1	3	3	3	2	4	2	2	1	4	2	3	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr11:58602155A>C	ENST00000287275.1	-	6	1022	c.632T>G	c.(631-633)cTt>cGt	p.L211R	GLYATL2_ENST00000533636.1_5'Flank|GLYATL2_ENST00000532258.1_Missense_Mutation_p.L211R	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	211						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CCAAGAGACAAGCTGGCCCTC	0.458																																																	0													71	74	73					11																	58602155		2136	4264	6400	SO:0001583	missense	0			AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.632T>G	11.37:g.58602155A>C	ENSP00000287275:p.Leu211Arg		A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.L211R	ENST00000287275.1	37	c.632	CCDS41649.1	11	.	.	.	.	.	.	.	.	.	.	A	10.30	1.311605	0.23821	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.22945	1.93;1.93	4.34	2.41	0.29592	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.085587	0.47455	U	0.000222	T	0.16896	0.0406	L	0.38175	1.15	0.09310	N	1	P	0.37176	0.586	B	0.36378	0.223	T	0.11743	-1.0575	10	0.49607	T	0.09	.	4.956	0.14041	0.1167:0.0:0.6778:0.2056	.	211	Q8WU03	GLYL2_HUMAN	R	211	ENSP00000287275:L211R;ENSP00000434277:L211R	ENSP00000287275:L211R	L	-	2	0	GLYATL2	58358731	0.049000	0.20398	0.002000	0.10522	0.080000	0.17528	0.546000	0.23284	0.273000	0.22049	-0.516000	0.04426	CTT	GLYATL2	-	pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	ENSG00000156689		0.458	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYATL2	HGNC	protein_coding	OTTHUMT00000394599.1	-	0	42	0	A	NM_145016		58602155	-1	tier1	-	no_errors	ENST00000287275	ensembl	human	known	74_37	missense	25.49	38	13	SNP	0.011	C	C	58602155	A	C	58602155	3	2	148	1	0	0	0	0	1	0	0	0	6507	72	3	4	256	4	GLYATL2	11	58602155	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	10335217	58602155	76404361	108	37763											
DAGLA	747	genome.wustl.edu	37	chr11	61493471	61493471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgctttgcaggcacCgcttagaggagggtcaagcc	7	9	12	13	1	2	1	1	0	1	1	3	2	2	2	3	3	3	4	3	3	2	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr11:61493471C>A	ENST00000257215.5	+	6	669	c.553C>A	c.(553-555)Cgc>Agc	p.R185S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	185					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)		TTGCAGGCACCGCTTAGAGGA	0.607																																																	0													86	80	82					11																	61493471		2202	4299	6501	SO:0001583	missense	0			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.553C>A	11.37:g.61493471C>A	ENSP00000257215:p.Arg185Ser		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.R185S	ENST00000257215.5	37	c.553	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613627	0.66672	.	.	ENSG00000134780	ENST00000257215	T	0.24908	1.83	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.42630	0.1211	L	0.41415	1.275	0.54753	D	0.999983	D	0.63880	0.993	D	0.74023	0.982	T	0.34650	-0.9820	10	0.51188	T	0.08	-32.1558	17.2282	0.86977	0.0:1.0:0.0:0.0	.	185	Q9Y4D2	DGLA_HUMAN	S	185	ENSP00000257215:R185S	ENSP00000257215:R185S	R	+	1	0	DAGLA	61250047	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.097000	0.50251	2.151000	0.67156	0.462000	0.41574	CGC	DAGLA	-	NULL	ENSG00000134780		0.607	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	-	0	42	0	C	NM_006133		61493471	1	tier1	-	no_errors	ENST00000257215	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	61493471	C	A	61493471	3	1	148	1	0	0	0	0	1	0	0	0	4235	652	23	2	571	2	DAGLA	11	61493471	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	2891316	61493471	73513045	109	37764											
AHNAK	79026	genome.wustl.edu	37	chr11	62285778	62285778	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagacagccagatctccctGcaggcttggtcccctcagtg	8	8	11	14	0	2	2	1	0	1	2	4	3	3	2	4	2	2	2	4	2	0	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr11:62285778G>A	ENST00000378024.4	-	5	16385	c.16111C>T	c.(16111-16113)Cag>Tag	p.Q5371*	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5371					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)				AGATCTCCCTGCAGGCTTGGT	0.532																																																	0													113	88	97					11																	62285778		2202	4299	6501	SO:0001587	stop_gained	0			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.16111C>T	11.37:g.62285778G>A	ENSP00000367263:p.Gln5371*		A1A586	Nonsense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q5371*	ENST00000378024.4	37	c.16111	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	57	27.410623	0.99971	.	.	ENSG00000124942	ENST00000378024	.	.	.	3.73	2.69	0.31865	.	0.232742	0.21615	U	0.071729	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	8.9071	0.35530	0.0:0.0:0.5431:0.4569	.	.	.	.	X	5371	.	ENSP00000367263:Q5371X	Q	-	1	0	AHNAK	62042354	0.966000	0.33281	1.000000	0.80357	0.993000	0.82548	1.879000	0.39618	2.013000	0.59113	0.453000	0.30009	CAG	AHNAK	-	NULL	ENSG00000124942		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1		0	75	0	G	NM_024060		62285778	-1			no_errors	ENST00000378024	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	1.000	A	A	62285778	G	A	62285778	4	1	148	1	0	0	0	0	0	1	0	0	414	1328	46	3	1681	3	AHNAK	11	62285778	Nonsense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	792307	62285778	72720738	110	37765											
PLCB3	5331	genome.wustl.edu	37	chr11	64032910	64032910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtcaccctcacccgcCgcctgctggatggcctggct	5	7	12	17	2	2	0	2	0	0	0	2	1	2	1	5	4	1	3	5	4	0	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr11:64032910C>T	ENST00000540288.1	+	25	3074	c.2971C>T	c.(2971-2973)Cgc>Tgc	p.R991C	PLCB3_ENST00000279230.6_Missense_Mutation_p.R991C|PLCB3_ENST00000325234.5_Missense_Mutation_p.R924C	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	991					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						CCTCACCCGCCGCCTGCTGGA	0.677																																																	0													20	21	21					11																	64032910		2183	4263	6446	SO:0001583	missense	0			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.2971C>T	11.37:g.64032910C>T	ENSP00000443631:p.Arg991Cys		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.R991C	ENST00000540288.1	37	c.2971	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961551	0.74016	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.47177	0.85;0.85;0.85	5.2	4.22	0.49857	.	0.367126	0.27019	N	0.021334	T	0.38639	0.1048	N	0.08118	0	0.23232	N	0.998072	D;D	0.71674	0.998;0.998	P;P	0.55260	0.701;0.772	T	0.21690	-1.0238	10	0.66056	D	0.02	.	10.2017	0.43087	0.1982:0.8018:0.0:0.0	.	924;991	G5E960;Q01970	.;PLCB3_HUMAN	C	991;991;924	ENSP00000279230:R991C;ENSP00000443631:R991C;ENSP00000324660:R924C	ENSP00000279230:R991C	R	+	1	0	PLCB3	63789486	1.000000	0.71417	0.402000	0.26371	0.206000	0.24218	1.244000	0.32778	2.445000	0.82738	0.561000	0.74099	CGC	PLCB3	-	pirsf_PLC-beta	ENSG00000149782		0.677	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	-	0	95	0	C			64032910	1	tier1	-	no_errors	ENST00000279230	ensembl	human	known	74_37	missense	14.29	54	9	SNP	0.268	T	T	64032910	C	T	64032910	3	4	148	1	0	0	0	0	1	0	0	0	12068	652	23	1	3069	1	PLCB3	11	64032910	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	1747132	64032910	70973606	111	37766											
SLC22A11	55867	genome.wustl.edu	37	chr11	64329843	64329843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcctggcctttgccctgCgggactggaggactctccag	4	8	15	14	2	1	0	0	0	1	0	2	3	1	3	4	5	2	0	4	5	0	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr11:64329843C>T	ENST00000301891.4	+	4	1131	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	SLC22A11_ENST00000377585.3_Missense_Mutation_p.R253W|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.R253W	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	253					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)	CTTTGCCCTGCGGGACTGGAG	0.632																																																	0													74	80	78					11																	64329843		2201	4297	6498	SO:0001583	missense	0			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.757C>T	11.37:g.64329843C>T	ENSP00000301891:p.Arg253Trp		A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R253W	ENST00000301891.4	37	c.757	CCDS8074.1	11	.	.	.	.	.	.	.	.	.	.	.	15.75	2.926597	0.52759	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.57436	0.4;0.4;0.4	3.58	1.64	0.23874	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	T	0.72763	0.3501	M	0.94021	3.485	0.29678	N	0.841925	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	T	0.66999	-0.5781	10	0.87932	D	0	.	3.5031	0.07680	0.1954:0.5802:0.0:0.2244	.	253;47;253;253	Q9NSA0-2;Q8NBZ3;A6NCG2;Q9NSA0	.;.;.;S22AB_HUMAN	W	253	ENSP00000301891:R253W;ENSP00000366809:R253W;ENSP00000366804:R253W	ENSP00000301891:R253W	R	+	1	2	SLC22A11	64086419	0.917000	0.31117	0.999000	0.59377	0.734000	0.41952	0.425000	0.21346	0.210000	0.20664	0.555000	0.69702	CGG	SLC22A11	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000168065		0.632	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A11	HGNC	protein_coding	OTTHUMT00000104886.4	-	0	30	0	C	NM_018484		64329843	1	tier1	-	no_errors	ENST00000301891	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.998	T	T	64329843	C	T	64329843	3	4	148	1	0	0	0	0	1	0	0	0	14487	759	27	1	771	1	SLC22A11	11	64329843	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	296933	64329843	70676673	112	37767											
C11orf87	399947	genome.wustl.edu	37	chr11	109294749	109294749	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acccacgcaaaggaaacccgGctggagaggcagccccggga	12	1	14	14	3	0	1	0	0	0	1	0	4	0	3	4	5	2	3	4	5	2	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr11:109294749G>T	ENST00000327419.6	+	2	793	c.390G>T	c.(388-390)cgG>cgT	p.R130R	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	130						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGGAAACCCGGCTGGAGAGGC	0.697																																																	0													50	58	55					11																	109294749		2201	4298	6499	SO:0001819	synonymous_variant	0			AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.390G>T	11.37:g.109294749G>T			B4E169	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.R130	ENST00000327419.6	37	c.390	CCDS31672.1	11																																																																																			C11orf87	-	NULL	ENSG00000185742		0.697	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf87	HGNC	protein_coding	OTTHUMT00000390403.1	-	0	21	0	G	NM_207645		109294749	1	tier1	-	no_errors	ENST00000327419	ensembl	human	known	74_37	silent	20.00	16	4	SNP	1.000	T	T	109294749	G	T	109294749	2	4	148	1	0	0	0	0	0	0	0	1	1674	1190	42	3		3	C11orf87	11	109294749	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	44964906	109294749	25711767	113	37768											
OR8G5	219865	genome.wustl.edu	37	chr11	124135398	124135398	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgaagctctcctgttctAgtacttacattaatgagtta	10	17	6	8	0	3	2	0	2	3	0	4	2	3	2	1	0	3	4	1	0	6	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr11:124135398A>G	ENST00000524943.2	+	1	676	c.676A>G	c.(676-678)Agt>Ggt	p.S226G	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|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;0.0523)		CTCCTGTTCTAGTACTTACAT	0.368																																					Ovarian(169;523 1969 8640 31295 51256)												0													178	177	177					11																	124135398		1949	4164	6113	SO:0001583	missense	0			BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.676A>G	11.37:g.124135398A>G	ENSP00000477014:p.Ser226Gly		B2RND3|Q6IEU6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S226G	ENST00000524943.2	37	c.676		11																																																																																			OR8G5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000255298		0.368	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	OR8G5	HGNC	protein_coding	OTTHUMT00000387283.2	-	0	118	0	A	NM_001005198		124135398	1	tier1	-	no_errors	ENST00000524943	ensembl	human	known	74_37	missense	6.62	127	9	SNP	0.004	G	G	124135398	A	G	124135398	3	3	148	1	0	0	0	0	1	0	0	0	11275	420	15	4	678	4	OR8G5	11	124135398	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	14840649	124135398	10871118	114	37769											
OPCML	4978	genome.wustl.edu	37	chr11	132290100	132290100	+	Missense_Mutation	SNP	A	A	G	1	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	tttcttatcaaaacttgatgAagaagtgggctaagagggtc	13	12	11	5	0	2	4	1	2	1	2	3	4	2	4	0	2	1	1	0	2	6	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr11:132290100A>G	ENST00000331898.7	-	7	1603	c.1025T>C	c.(1024-1026)tTc>tCc	p.F342S	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.F301S|OPCML_ENST00000524381.1_Missense_Mutation_p.F335S|OPCML_ENST00000541867.1_Missense_Mutation_p.F351S	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	342					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AAACTTGATGAAGAAGTGGGC	0.512																																																	0													106	96	99					11																	132290100		2201	4297	6498	SO:0001583	missense	0			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.1025T>C	11.37:g.132290100A>G	ENSP00000330862:p.Phe342Ser		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F351S	ENST00000331898.7	37	c.1052	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	A	15.02	2.709623	0.48517	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.63096	0.35;0.32;0.5;-0.02	5.04	5.04	0.67666	.	0.236441	0.35585	N	0.003104	T	0.46405	0.1391	N	0.14661	0.345	0.35554	D	0.804169	B;B;B;B	0.26002	0.015;0.139;0.087;0.139	B;B;B;B	0.24701	0.027;0.034;0.035;0.055	T	0.58707	-0.7589	10	0.87932	D	0	-9.0433	13.3194	0.60424	1.0:0.0:0.0:0.0	.	351;335;341;342	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	S	342;335;301;309;351	ENSP00000330862:F342S;ENSP00000434750:F335S;ENSP00000363910:F301S;ENSP00000445496:F351S	ENSP00000330862:F342S	F	-	2	0	OPCML	131795310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.552000	0.67281	2.025000	0.59659	0.460000	0.39030	TTC	OPCML	-	NULL	ENSG00000183715		0.512	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	-	0	27	0	A	NM_001012393		132290100	-1	tier1	-	no_errors	ENST00000541867	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	G	G	132290100	A	G	132290100	3	3	148	1	0	0	0	0	1	0	0	0	10913	246	9	4	16	4	OPCML	11	132290100	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	8154702	132290100	2716416	115	37770											
RIMKLB	57494	genome.wustl.edu	37	chr12	8926293	8926293	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcgaccctgaaagcacGgagcgagagctgctcaccaa	13	3	12	13	3	1	2	1	1	0	1	1	6	1	3	2	1	5	3	2	1	2	0	rs201727444		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:8926293G>T	ENST00000538135.1	+	6	1899	c.1074G>T	c.(1072-1074)acG>acT	p.T358T	RIMKLB_ENST00000535829.1_Silent_p.T358T|RIMKLB_ENST00000299673.5_Intron|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000357529.3_Silent_p.T358T			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	358					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						CTGAAAGCACGGAGCGAGAGC	0.557																																																	0													97	96	96					12																	8926293		1928	4136	6064	SO:0001819	synonymous_variant	0			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.1074G>T	12.37:g.8926293G>T			B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.T358	ENST00000538135.1	37	c.1074	CCDS41748.1	12																																																																																			RIMKLB	-	NULL	ENSG00000166532		0.557	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLB	HGNC	protein_coding	OTTHUMT00000398874.1	-	0	32	0	G	NM_020734		8926293	1	tier1	-	no_errors	ENST00000357529	ensembl	human	known	74_37	silent	11.90	37	5	SNP	0.669	T	T	8926293	G	T	8926293	2	4	148	1	0	0	0	0	0	0	0	1	13411	1103	39	2		2	RIMKLB	12	8926293	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		8926293	124925602	116	37771											
CPNE8	144402	genome.wustl.edu	37	chr12	39047710	39047710	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgagtctgtaacacatgtgTaggtggggtgtatgggggag	8	12	18	3	0	1	1	0	1	1	0	1	2	1	2	0	5	1	3	0	5	3	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:39047710T>G	ENST00000331366.5	-	20	1765	c.1669A>C	c.(1669-1671)Aca>Cca	p.T557P	CPNE8_ENST00000538596.2_Missense_Mutation_p.T226P|CPNE8_ENST00000360449.3_Missense_Mutation_p.T545P|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	557						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AACACATGTGTAGGTGGGGTG	0.468																																																	0													93	87	89					12																	39047710		2203	4300	6503	SO:0001583	missense	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1669A>C	12.37:g.39047710T>G	ENSP00000329748:p.Thr557Pro		Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.T557P	ENST00000331366.5	37	c.1669	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	T	10.67	1.416529	0.25552	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.25749	1.78;1.91;1.78	4.14	4.14	0.48551	.	0.210998	0.41396	D	0.000886	T	0.10766	0.0263	N	0.04355	-0.22	0.24986	N	0.991567	B	0.22604	0.072	B	0.14578	0.011	T	0.14755	-1.0461	10	0.34782	T	0.22	-17.5788	7.7896	0.29112	0.0:0.0995:0.0:0.9005	.	557	Q86YQ8	CPNE8_HUMAN	P	557;226;545	ENSP00000329748:T557P;ENSP00000439237:T226P;ENSP00000353633:T545P	ENSP00000329748:T557P	T	-	1	0	CPNE8	37333977	0.055000	0.20627	0.838000	0.33150	0.871000	0.50021	0.276000	0.18716	1.810000	0.52873	0.533000	0.62120	ACA	CPNE8	-	NULL	ENSG00000139117		0.468	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	-	0	51	0	T	NM_153634		39047710	-1	tier1	-	no_errors	ENST00000331366	ensembl	human	known	74_37	missense	17.19	53	11	SNP	0.733	G	G	39047710	T	G	39047710	3	3	148	1	0	0	0	0	1	0	0	0	3825	1638	57	4	29	4	CPNE8	12	39047710	Missense_Mutation	SNP	T	TCGA-R6-A8W5-01B-11D-A37C-09	30121417	39047710	94804185	117	37772											
LRRK2	120892	genome.wustl.edu	37	chr12	40734196	40734196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcattgcaaagattgctGactacggcattgctcagtac	11	11	8	11	1	2	2	2	1	0	1	2	2	2	2	1	1	5	5	1	1	3	5			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:40734196G>T	ENST00000298910.7	+	41	6107	c.6049G>T	c.(6049-6051)Gac>Tac	p.D2017Y		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2017	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)	p.D2017H(1)|p.D2024H(1)		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)				AAAGATTGCTGACTACGGCAT	0.453																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(2)											207	177	187					12																	40734196		2203	4300	6503	SO:0001583	missense	0			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.6049G>T	12.37:g.40734196G>T	ENSP00000298910:p.Asp2017Tyr		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.D2017Y	ENST00000298910.7	37	c.6049	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899937	0.92035	.	.	ENSG00000188906	ENST00000298910	D	0.93076	-3.16	5.69	5.69	0.88448	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	0.98327	0.9445	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99305	1.0902	10	0.87932	D	0	.	19.8215	0.96599	0.0:0.0:1.0:0.0	.	2017;2017	Q17RV3;Q5S007	.;LRRK2_HUMAN	Y	2017	ENSP00000298910:D2017Y	ENSP00000298910:D2017Y	D	+	1	0	LRRK2	39020463	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.527000	0.98044	2.679000	0.91253	0.650000	0.86243	GAC	LRRK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000188906		0.453	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1		0	56	0	G	XM_058513		40734196	1			no_errors	ENST00000298910	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	40734196	G	T	40734196	3	4	148	1	0	0	0	0	1	0	0	0	9068	1290	45	3	6211	3	LRRK2	12	40734196	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	1686486	40734196	93117699	118	37773											
ASB8	140461	genome.wustl.edu	37	chr12	48543324	48543324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacatagctgcgggtctctgGccacctctcgtggcatggtg	5	10	13	13	2	2	0	0	0	2	0	4	0	2	0	2	4	2	2	2	4	1	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:48543324G>T	ENST00000317697.3	-	4	861	c.692C>A	c.(691-693)gCc>gAc	p.A231D	ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.A231D	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	231					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						CGGGTCTCTGGCCACCTCTCG	0.527																																																	0													78	78	78					12																	48543324		2203	4300	6503	SO:0001583	missense	0			AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"Ankyrin repeat domain containing"	17183	protein-coding gene	gene with protein product		615053	"ankyrin repeat and SOCS box-containing 8"			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.692C>A	12.37:g.48543324G>T	ENSP00000320893:p.Ala231Asp		A8K1P2|Q547Q2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.A231D	ENST00000317697.3	37	c.692	CCDS8761.1	12	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017256	0.35606	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549	T;T	0.42513	0.97;0.97	5.19	4.29	0.51040	Ankyrin repeat-containing domain (1);	0.367046	0.33691	N	0.004649	T	0.28699	0.0711	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09618	-1.0666	10	0.87932	D	0	-5.1047	9.503	0.39028	0.0751:0.0:0.7805:0.1444	.	231	Q9H765	ASB8_HUMAN	D	231;231;198	ENSP00000320893:A231D;ENSP00000445622:A231D	ENSP00000320893:A231D	A	-	2	0	ASB8	46829591	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	2.622000	0.46427	1.316000	0.45131	-0.182000	0.12963	GCC	ASB8	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000177981		0.527	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB8	HGNC	protein_coding	OTTHUMT00000396497.1		0	69	0	G			48543324	-1			no_errors	ENST00000317697	ensembl	human	known	74_37	missense	8.51	42	4	SNP	1.000	T	T	48543324	G	T	48543324	3	4	148	1	0	0	0	0	1	0	0	0	1030	1203	42	3	178	3	ASB8	12	48543324	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	7809128	48543324	85308571	119	37774											
KRT6B	3854	genome.wustl.edu	37	chr12	52841347	52841347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgacttgtccaacgccttCgccattcagcctgtggagag	7	11	11	12	2	1	2	1	1	0	1	3	3	2	2	4	1	2	1	4	1	1	4	rs369418982	byFrequency	TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:52841347C>T	ENST00000252252.3	-	8	1482	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	479	Tail.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.E479K(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)		CCAACGCCTTCGCCATTCAGC	0.552													C|||	3	0.000599042	0	0	5008	,	,		22490	0		0.001	False		,,,				2504	0.002																1	Substitution - Missense(1)	lung(1)						C	LYS/GLU	1,4405		0,1,2202	141	110	120		1435	2.9	1	12		120	0,8600		0,0,4300	no	missense	KRT6B	NM_005555.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	479/565	52841347	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1435G>A	12.37:g.52841347C>T	ENSP00000252252:p.Glu479Lys		P48669	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.E479K	ENST00000252252.3	37	c.1435	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546388	0.45383	2.27E-4	0.0	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.86164	-2.08	2.93	2.93	0.34026	.	0.000000	0.56097	D	0.000026	D	0.93154	0.7820	M	0.91090	3.175	0.38261	D	0.941888	D	0.89917	1.0	D	0.64877	0.93	D	0.94314	0.7548	10	0.87932	D	0	.	10.0312	0.42101	0.0:0.896:0.0:0.104	.	479	P04259	K2C6B_HUMAN	K	479;439	ENSP00000252252:E479K	ENSP00000252252:E479K	E	-	1	0	KRT6B	51127614	0.956000	0.32656	0.991000	0.47740	0.227000	0.25037	5.082000	0.64450	1.971000	0.57363	0.305000	0.20034	GAA	KRT6B	-	NULL	ENSG00000185479		0.552	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1		0	84	0	C	NM_005555		52841347	-1			no_errors	ENST00000252252	ensembl	human	known	74_37	missense	7.84	46	4	SNP	0.985	T	T	52841347	C	T	52841347	3	4	148	1	0	0	0	0	1	0	0	0	8508	893	31	1	267	1	KRT6B	12	52841347	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	4298023	52841347	81010548	120	37775											
CDK2	1017	genome.wustl.edu	37	chr12	56364968	56364968	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagccaagtttccccaagtgGgcccggcaagattttagtaa	12	9	10	10	1	0	1	0	0	0	1	1	1	1	1	4	2	1	3	4	2	6	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:56364968G>A	ENST00000266970.4	+	6	969	c.729G>A	c.(727-729)tgG>tgA	p.W243*	RAB5B_ENST00000360299.5_5'Flank|CDK2_ENST00000440311.2_Nonsense_Mutation_p.W183*|CDK2_ENST00000354056.4_Nonsense_Mutation_p.W209*|RAB5B_ENST00000553116.1_5'Flank|CDK2_ENST00000556656.1_3'UTR|RAB5B_ENST00000448789.2_5'Flank|CDK2_ENST00000553376.1_Nonsense_Mutation_p.W291*	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	TCCCCAAGTGGGCCCGGCAAG	0.517																																																	0													171	177	175					12																	56364968		2203	4300	6503	SO:0001587	stop_gained	0			M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"Cyclin-dependent kinases"	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.729G>A	12.37:g.56364968G>A	ENSP00000266970:p.Trp243*		A8K7C6|O75100	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.W243*	ENST00000266970.4	37	c.729	CCDS8898.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.093394	0.97276	.	.	ENSG00000123374	ENST00000266970;ENST00000553376;ENST00000440311;ENST00000354056	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4701	17.7108	0.88321	0.0:0.0:1.0:0.0	.	.	.	.	X	243;291;183;209	.	ENSP00000266970:W243X	W	+	3	0	CDK2	54651235	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.852000	0.99516	2.559000	0.86315	0.591000	0.81541	TGG	CDK2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000123374		0.517	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK2	HGNC	protein_coding	OTTHUMT00000409650.1	-	0	81	0	G			56364968	1	tier1	-	no_errors	ENST00000266970	ensembl	human	known	74_37	nonsense	15.71	59	11	SNP	1.000	A	A	56364968	G	A	56364968	4	1	148	1	0	0	0	0	0	1	0	0	3143	1241	43	3	751	3	CDK2	12	56364968	Nonsense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	3523621	56364968	77486927	121	37776											
PRIM1	5557	genome.wustl.edu	37	chr12	57127970	57127970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttttcgggatttatccaGattttcaagaaaatgttcaa	12	16	6	7	1	2	2	2	0	0	2	5	3	4	3	2	1	0	1	2	1	5	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:57127970G>A	ENST00000338193.6	-	12	1240	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	402					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						GATTTATCCAGATTTTCAAGA	0.323																																																	0													83	83	83					12																	57127970		1810	4067	5877	SO:0001819	synonymous_variant	0			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.1204C>T	12.37:g.57127970G>A				Silent	SNP	pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc	p.L402	ENST00000338193.6	37	c.1204	CCDS44926.1	12																																																																																			PRIM1	-	NULL	ENSG00000198056		0.323	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIM1	HGNC	protein_coding	OTTHUMT00000406956.1	-	0	62	0	G	NM_000946		57127970	-1	tier1	-	no_errors	ENST00000338193	ensembl	human	known	74_37	silent	17.39	37	8	SNP	0.989	A	A	57127970	G	A	57127970	2	1	148	1	0	0	0	0	0	0	0	1	12532	933	33	3		3	PRIM1	12	57127970	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	763002	57127970	76723925	122	37777											
DUSP6	1848	genome.wustl.edu	37	chr12	89743266	89743266	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tctgcataaggtaagccacaGtcacagtgactgagcggcta	12	8	11	10	1	2	2	1	2	1	0	2	2	2	2	1	2	3	3	1	2	3	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:89743266G>T	ENST00000279488.7	-	3	2142	c.911C>A	c.(910-912)aCt>aAt	p.T304N	DUSP6_ENST00000308385.6_Missense_Mutation_p.T158N|DUSP6_ENST00000547140.1_5'UTR|DUSP6_ENST00000547291.1_Missense_Mutation_p.T179N	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	304	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)	p.T304I(1)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GTAAGCCACAGTCACAGTGAC	0.448																																					Colon(132;3456 5224)												1	Substitution - Missense(1)	large_intestine(1)											104	98	100					12																	89743266		2203	4300	6503	SO:0001583	missense	0			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.911C>A	12.37:g.89743266G>T	ENSP00000279488:p.Thr304Asn		O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.T304N	ENST00000279488.7	37	c.911	CCDS9033.1	12	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514445	0.85389	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000547291	T;T;T	0.60672	0.17;0.17;0.17	5.68	5.68	0.88126	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.046598	0.85682	D	0.000000	T	0.82204	0.4986	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.81914	0.991;0.995	D	0.84736	0.0748	10	0.62326	D	0.03	.	20.1615	0.98135	0.0:0.0:1.0:0.0	.	158;304	Q16828-2;Q16828	.;DUS6_HUMAN	N	304;158;179	ENSP00000279488:T304N;ENSP00000307835:T158N;ENSP00000449838:T179N	ENSP00000279488:T304N	T	-	2	0	DUSP6	88267397	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	9.835000	0.99442	2.835000	0.97688	0.650000	0.86243	ACT	DUSP6	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000139318		0.448	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP6	HGNC	protein_coding	OTTHUMT00000406534.2		0	32	0	G	NM_001946, NM_022652		89743266	-1			no_errors	ENST00000279488	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	89743266	G	T	89743266	3	4	148	1	0	0	0	0	1	0	0	0	4843	1029	36	3	238	3	DUSP6	12	89743266	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	32615296	89743266	44108629	123	37778											
LTA4H	4048	genome.wustl.edu	37	chr12	96412682	96412682	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttaagcatagattcagtCtgaaaaatcaacatatatat	18	14	4	5	0	3	2	2	1	1	1	3	2	3	2	0	0	2	1	0	0	8	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:96412682C>T	ENST00000228740.2	-	8	853		c.e8-1		LTA4H_ENST00000413268.2_Splice_Site|LTA4H_ENST00000552789.1_Splice_Site	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase						arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TAGATTCAGTCTGAAAAATCA	0.363																																																	0													62	60	61					12																	96412682		2203	4300	6503	SO:0001630	splice_region_variant	0			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.712-1G>A	12.37:g.96412682C>T			B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Splice_Site	SNP	-	e8-1	ENST00000228740.2	37	c.712-1	CCDS9059.1	12	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043487	0.75732	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2883	0.94087	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTA4H	94936813	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.667000	0.83888	2.646000	0.89796	0.591000	0.81541	.	LTA4H	-	-	ENSG00000111144		0.363	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTA4H	HGNC	protein_coding	OTTHUMT00000408655.1	-	0	53	0	C	NM_000895	Intron	96412682	-1	tier1	-	no_errors	ENST00000228740	ensembl	human	known	74_37	splice_site	14.58	41	7	SNP	1.000	T	T	96412682	C	T	96412682	5	4	148	1	0	0	0	0	0	0	1	0	9104	927	32	3	1172	3	LTA4H	12	96412682	Splice_Site	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	6669416	96412682	37439213	124	37779											
NUP37	79023	genome.wustl.edu	37	chr12	102471235	102471235	+	Frame_Shift_Del	DEL	A	A	-																															ataaaatagcctgttgggccAaaagatcataaaaccggatt																										TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:102471235delA	ENST00000552283.1	-	7	726	c.587delT	c.(586-588)ttgfs	p.L196fs	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Frame_Shift_Del_p.L196fs|NUP37_ENST00000543021.1_5'Flank			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	196					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)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CTGTTGGGCCAAAAGATCATA	0.383																																																	0													135	140	138					12																	102471235		2203	4300	6503	SO:0001589	frameshift_variant	0			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"WD repeat domain containing"	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.587delT	12.37:g.102471235delA	ENSP00000448054:p.Leu196fs		Q9H644	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L196fs	ENST00000552283.1	37	c.587	CCDS9089.1	12																																																																																			NUP37	-	superfamily_WD40_repeat_dom	ENSG00000075188		0.383	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP37	HGNC	protein_coding	OTTHUMT00000409330.1		0	43	0	A	NM_024057		102471235	-1	tier1		no_errors	ENST00000251074	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.054	-	-	102471235	A	-	102471235	7	5	148	1	0	1	0	1	0	0	0	0	10803	131	5	0	409	0	NUP37	12	102471235	Frame_Shift_Del	DEL	A	TCGA-R6-A8W5-01B-11D-A37C-09	6058553	102471235	31380660	125	37780											
KIAA1033	23325	genome.wustl.edu	37	chr12	105519872	105519872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaatttgcacatagtattCggtcaatttttgcaaatgta	13	15	8	5	1	1	0	1	0	0	0	2	1	1	1	0	2	2	4	0	2	6	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:105519872C>T	ENST00000332180.5	+	11	964	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		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						ACATAGTATTCGGTCAATTTT	0.323																																																	0													110	99	102					12																	105519872		1818	4075	5893	SO:0001583	missense	0			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.877C>T	12.37:g.105519872C>T	ENSP00000328062:p.Arg293Trp			Missense_Mutation	SNP	NULL	p.R293W	ENST00000332180.5	37	c.877	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656037	0.88056	.	.	ENSG00000136051	ENST00000332180	T	0.35973	1.28	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.968;0.968	T	0.65154	-0.6237	10	0.72032	D	0.01	.	19.5177	0.95171	0.0:1.0:0.0:0.0	.	293;293	B7ZKT9;Q2M389	.;WASH7_HUMAN	W	293	ENSP00000328062:R293W	ENSP00000328062:R293W	R	+	1	2	KIAA1033	104044002	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.950000	0.70265	2.605000	0.88082	0.557000	0.71058	CGG	KIAA1033	-	NULL	ENSG00000136051		0.323	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	-	0	98	0	C	NM_015275		105519872	1	tier1	-	no_errors	ENST00000332180	ensembl	human	known	74_37	missense	8.42	87	8	SNP	1.000	T	T	105519872	C	T	105519872	3	4	148	1	0	0	0	0	1	0	0	0	8233	875	31	1	919	1	KIAA1033	12	105519872	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	3048637	105519872	28332023	126	37781											
PSMD9	5715	genome.wustl.edu	37	chr12	122337551	122337551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcccaggcctgcagaatGatcacaaggcagtgatgaag	13	7	11	10	0	2	4	2	3	0	1	3	4	3	4	2	2	1	2	2	2	3	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:122337551G>T	ENST00000541212.1	+	3	379	c.253G>T	c.(253-255)Gat>Tat	p.D85Y	PSMD9_ENST00000340175.5_Missense_Mutation_p.D85Y|PSMD9_ENST00000261817.2_Missense_Mutation_p.D85Y|RP11-87C12.2_ENST00000546333.1_Intron|PSMD9_ENST00000542602.1_Intron			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	85					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)		CCTGCAGAATGATCACAAGGC	0.552																																																	0													36	32	33					12																	122337551		2200	4298	6498	SO:0001583	missense	0			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.253G>T	12.37:g.122337551G>T	ENSP00000440485:p.Asp85Tyr		B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ	p.D85Y	ENST00000541212.1	37	c.253	CCDS9225.1	12	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832501	0.91036	.	.	ENSG00000110801	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000538613	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73842	-0.3855	10	0.87932	D	0	-30.5929	20.0139	0.97470	0.0:0.0:1.0:0.0	.	85;85	F8W7V8;O00233	.;PSMD9_HUMAN	Y	85	ENSP00000440485:D85Y;ENSP00000340847:D85Y;ENSP00000261817:D85Y;ENSP00000443081:D85Y	ENSP00000261817:D85Y	D	+	1	0	PSMD9	120821934	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.024000	0.93689	2.724000	0.93272	0.563000	0.77884	GAT	PSMD9	-	NULL	ENSG00000110801		0.552	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMD9	HGNC	protein_coding	OTTHUMT00000401686.1		0	39	0	G	NM_002813		122337551	1			no_errors	ENST00000541212	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	122337551	G	T	122337551	3	4	148	1	0	0	0	0	1	0	0	0	12747	1290	45	3	263	3	PSMD9	12	122337551	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	16817679	122337551	11514344	127	37782											
PITPNM2	57605	genome.wustl.edu	37	chr12	123470823	123470823	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcgccatgcgggtggcCgtgttgcgagcgggccgcgc	3	5	19	14	8	0	0	0	0	0	0	0	1	0	0	3	3	4	2	3	3	0	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:123470823C>T	ENST00000542749.1	-	24	3864	c.3801G>A	c.(3799-3801)acG>acA	p.T1267T	PITPNM2_ENST00000320201.4_Silent_p.T1267T|PITPNM2_ENST00000392428.1_Silent_p.T988T|PITPNM2_ENST00000280562.5_Silent_p.T1261T			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1267					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)		TGCGGGTGGCCGTGTTGCGAG	0.706																																																	0													8	9	9					12																	123470823		2141	4194	6335	SO:0001819	synonymous_variant	0			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.3801G>A	12.37:g.123470823C>T			Q9P271	Silent	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.T1267	ENST00000542749.1	37	c.3801	CCDS9242.1	12																																																																																			PITPNM2	-	NULL	ENSG00000090975		0.706	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	-	0	14	0	C	NM_020845		123470823	-1	tier1	-	no_errors	ENST00000320201	ensembl	human	known	74_37	silent	40.00	6	4	SNP	0.539	T	T	123470823	C	T	123470823	2	4	148	1	0	0	0	0	0	0	0	1	11990	639	23	1		1	PITPNM2	12	123470823	Silent	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	1133272	123470823	10381072	128	37783											
NCOR2	9612	genome.wustl.edu	37	chr12	124817728	124817728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggtacacagcactccGggagtgccctggctccgtca	7	6	13	15	3	1	0	1	0	0	0	3	1	3	1	3	3	4	3	3	3	1	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr12:124817728G>C	ENST00000405201.1	-	42	6703	c.6703C>G	c.(6703-6705)Cgg>Ggg	p.R2235G	NCOR2_ENST00000404621.1_Missense_Mutation_p.R2225G|NCOR2_ENST00000429285.2_Missense_Mutation_p.R2225G|NCOR2_ENST00000397355.1_Missense_Mutation_p.R2226G|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1796G|NCOR2_ENST00000356219.3_Missense_Mutation_p.R2242G			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2246					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)		ACAGCACTCCGGGAGTGCCCT	0.632																																																	0													50	59	56					12																	124817728		2081	4206	6287	SO:0001583	missense	0			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.6703C>G	12.37:g.124817728G>C	ENSP00000384018:p.Arg2235Gly		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R2242G	ENST00000405201.1	37	c.6724	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	8.740	0.918810	0.17982	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.18810	2.19;2.45;2.19;2.45;2.19;2.45	4.8	3.9	0.45041	.	0.246048	0.33092	N	0.005296	T	0.32912	0.0845	L	0.48362	1.52	0.30632	N	0.757408	D;D;P	0.69078	0.993;0.997;0.603	P;D;B	0.67725	0.827;0.953;0.201	T	0.17561	-1.0365	10	0.46703	T	0.11	-26.065	7.7801	0.29060	0.0817:0.0:0.6532:0.2652	.	2226;2235;2246	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	G	2235;2225;2242;2226;2234;1796;327;2225	ENSP00000384018:R2235G;ENSP00000384202:R2225G;ENSP00000348551:R2242G;ENSP00000380513:R2226G;ENSP00000385618:R1796G;ENSP00000400281:R2225G	ENSP00000348551:R2242G	R	-	1	2	NCOR2	123383681	0.983000	0.35010	0.144000	0.22314	0.155000	0.21991	2.478000	0.45189	0.991000	0.38814	0.650000	0.86243	CGG	NCOR2	-	NULL	ENSG00000196498		0.632	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0	44	0	G	NM_006312		124817728	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.733	C	C	124817728	G	C	124817728	3	2	148	1	0	0	0	0	1	0	0	0	10275	1115	39	5	865	5	NCOR2	12	124817728	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	1346905	124817728	9034167	129	37784											
IRS2	8660	genome.wustl.edu	37	chr13	110436619	110436619	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagggtgtattcatccagCgaggcagaggagggctgggg	9	7	18	7	1	2	1	2	0	0	1	3	3	3	2	1	6	1	3	1	6	1	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr13:110436619C>A	ENST00000375856.3	-	1	2296	c.1782G>T	c.(1780-1782)tcG>tcT	p.S594S		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	594					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)			ATTCATCCAGCGAGGCAGAGG	0.726																																					Melanoma(100;613 2409 40847)												0													9	14	12					13																	110436619		2161	4274	6435	SO:0001819	synonymous_variant	0			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.1782G>T	13.37:g.110436619C>A			Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.S594	ENST00000375856.3	37	c.1782	CCDS9510.1	13																																																																																			IRS2	-	NULL	ENSG00000185950		0.726	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	HGNC	protein_coding	OTTHUMT00000045755.1	-	0	22	0	C	NM_003749		110436619	-1	tier1	-	no_errors	ENST00000375856	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.987	A	A	110436619	C	A	110436619	2	1	148	1	0	0	0	0	0	0	0	1	7868	755	27	2		2	IRS2	13	110436619	Silent	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09		110436619	4733259	130	37785											
CLEC14A	161198	genome.wustl.edu	37	chr14	38724103	38724103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattaaacttggaaatcacGctccctgatggggtgatagt	12	11	11	7	1	1	2	1	2	0	0	2	4	2	3	1	3	1	1	1	3	5	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr14:38724103G>T	ENST00000342213.2	-	1	1471	c.1125C>A	c.(1123-1125)agC>agA	p.S375R		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	375						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGGAAATCACGCTCCCTGATG	0.502																																																	0													78	65	70					14																	38724103		2203	4300	6503	SO:0001583	missense	0				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1125C>A	14.37:g.38724103G>T	ENSP00000353013:p.Ser375Arg		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S375R	ENST00000342213.2	37	c.1125	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300285	0.60195	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.77489	-1.1	4.14	-3.61	0.04556	.	0.890976	0.09291	N	0.822312	T	0.58119	0.2100	L	0.29908	0.895	0.09310	N	1	B	0.20052	0.041	B	0.13407	0.009	T	0.47749	-0.9093	10	0.87932	D	0	-9.0691	0.2396	0.00191	0.3425:0.1411:0.2307:0.2857	.	375	Q86T13	CLC14_HUMAN	R	375;140	ENSP00000353013:S375R	ENSP00000353013:S375R	S	-	3	2	CLEC14A	37793854	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-1.985000	0.01485	-0.730000	0.04869	0.563000	0.77884	AGC	CLEC14A	-	NULL	ENSG00000176435		0.502	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	-	0	55	0	G	NM_175060		38724103	-1	tier1	-	no_errors	ENST00000342213	ensembl	human	known	74_37	missense	8.06	57	5	SNP	0.000	T	T	38724103	G	T	38724103	3	4	148	1	0	0	0	0	1	0	0	0	3506	1078	38	2	351	2	CLEC14A	14	38724103	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		38724103	68625437	131	37786											
KLHL28	54813	genome.wustl.edu	37	chr14	45400591	45400591	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgattttgatgaggatcGtatctttcaatgctggacaa	11	14	9	7	1	2	3	1	3	1	0	3	5	2	5	0	2	1	2	0	2	3	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr14:45400591G>A	ENST00000396128.4	-	4	1616	c.1497C>T	c.(1495-1497)taC>taT	p.Y499Y	KLHL28_ENST00000355081.2_Silent_p.Y513Y	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	499										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GATGAGGATCGTATCTTTCAA	0.378																																																	0													107	99	102					14																	45400591		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1497C>T	14.37:g.45400591G>A			Q0VAL5	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Y499	ENST00000396128.4	37	c.1497	CCDS9680.1	14																																																																																			KLHL28	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000179454		0.378	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	HGNC	protein_coding	OTTHUMT00000276790.3	-	0	59	0	G			45400591	-1	tier1	-	no_errors	ENST00000396128	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.993	A	A	45400591	G	A	45400591	2	1	148	1	0	0	0	0	0	0	0	1	8409	1140	40	1		1	KLHL28	14	45400591	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	6676488	45400591	61948949	132	37787											
TRIM9	114088	genome.wustl.edu	37	chr14	51448791	51448791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggatgatgtccgagtgcGccgagccagggtcgaaagca	11	5	16	9	4	0	2	0	1	0	1	2	6	1	3	3	2	3	1	3	2	1	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr14:51448791G>A	ENST00000298355.3	-	8	2755	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	TRIM9_ENST00000557456.1_5'Flank|TRIM9_ENST00000338969.5_Missense_Mutation_p.A626V	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	545	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A626V(1)|p.A545V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GTCCGAGTGCGCCGAGCCAGG	0.527																																																	2	Substitution - Missense(2)	large_intestine(2)											72	60	64					14																	51448791		2203	4300	6503	SO:0001583	missense	0			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1634C>T	14.37:g.51448791G>A	ENSP00000298355:p.Ala545Val		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.A626V	ENST00000298355.3	37	c.1877	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474882	0.63737	.	.	ENSG00000100505	ENST00000298355;ENST00000338969	T;T	0.76448	-1.02;-0.75	6.08	6.08	0.98989	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.044027	0.85682	D	0.000000	D	0.89887	0.6845	M	0.86573	2.825	0.80722	D	1	D;D	0.76494	0.999;0.971	D;P	0.68765	0.96;0.508	D	0.90354	0.4368	10	0.72032	D	0.01	.	19.6603	0.95864	0.0:0.0:1.0:0.0	.	626;545	Q9C026-4;Q9C026	.;TRIM9_HUMAN	V	545;626	ENSP00000298355:A545V;ENSP00000342970:A626V	ENSP00000298355:A545V	A	-	2	0	TRIM9	50518541	1.000000	0.71417	0.097000	0.21041	0.001000	0.01503	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	GCG	TRIM9	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000100505		0.527	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	-	0	47	0	G	NM_015163		51448791	-1	tier1	-	no_errors	ENST00000338969	ensembl	human	known	74_37	missense	17.65	42	9	SNP	0.999	A	A	51448791	G	A	51448791	3	1	148	1	0	0	0	0	1	0	0	0	16597	1087	38	1	510	1	TRIM9	14	51448791	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	6048200	51448791	55900749	133	37788											
CHGA	1113	genome.wustl.edu	37	chr14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-																															ggtggcaggcaaagagagaaGaggaggaggaggaggaggag																								rs371215355|rs575196921	byFrequency	TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					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)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												0																																										SO:0001651	inframe_deletion	0				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.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	pfam_Granin,prints_Chromogranin_AB	p.E232in_frame_del	ENST00000216492.5	37	c.685_687	CCDS9906.1	14																																																																																			CHGA	-	pfam_Granin	ENSG00000100604		0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1		0	43	0	GAG	NM_001275		93397926	1	tier1		no_errors	ENST00000216492	ensembl	human	known	74_37	in_frame_del	14.29	18	3	DEL	0.001:0.007:0.019	-	-	93397926	GAG	-	93397924	7	5	148	1	0	1	0	1	0	0	0	0	3345	943	33	0	707	0	CHGA	14	93397924	In_Frame_Del	DEL	GAG	TCGA-R6-A8W5-01B-11D-A37C-09	41949133	93397924	13951616	134	37789											
CDC42BPB	9578	genome.wustl.edu	37	chr14	103416922	103416922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtctttgcaggacacgtGgcaagcaaaggaacacactg	13	6	11	11	2	1	0	0	0	1	0	1	2	1	2	1	3	3	3	1	3	3	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr14:103416922G>T	ENST00000361246.2	-	25	3478	c.3190C>A	c.(3190-3192)Cac>Aac	p.H1064N		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)		CAGGACACGTGGCAAGCAAAG	0.577																																																	0													54	45	48					14																	103416922		2202	4300	6502	SO:0001583	missense	0			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.3190C>A	14.37:g.103416922G>T	ENSP00000355237:p.His1064Asn			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.H1064N	ENST00000361246.2	37	c.3190	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290779	0.80914	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	D	0.99557	-6.16	5.52	5.52	0.82312	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.99846	0.9929	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96665	0.9492	10	0.87932	D	0	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	1064;1064	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	N	1064;175	ENSP00000355237:H1064N	ENSP00000355237:H1064N	H	-	1	0	CDC42BPB	102486675	1.000000	0.71417	0.975000	0.42487	0.507000	0.33981	9.813000	0.99286	2.756000	0.94617	0.561000	0.74099	CAC	CDC42BPB	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd	ENSG00000198752		0.577	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	-	0	47	0	G	NM_006035		103416922	-1	tier1	-	no_errors	ENST00000361246	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	103416922	G	T	103416922	3	4	148	1	0	0	0	0	1	0	0	0	3080	1348	47	3	1997	3	CDC42BPB	14	103416922	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	10018998	103416922	3932618	135	37790											
ATP10A	57194	genome.wustl.edu	37	chr15	25925092	25925092	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgaagttgtgtggggaaaAccctcccctggagggatctg	8	9	15	9	0	1	1	0	1	1	0	2	4	2	4	3	4	1	2	3	4	3	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr15:25925092A>C	ENST00000356865.6	-	21	4007	c.3896T>G	c.(3895-3897)gTt>gGt	p.V1299G		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1299					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)		TGTGGGGAAAACCCTCCCCTG	0.498																																																	0													63	69	67					15																	25925092		2202	4300	6502	SO:0001583	missense	0			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.3896T>G	15.37:g.25925092A>C	ENSP00000349325:p.Val1299Gly		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V1299G	ENST00000356865.6	37	c.3896	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	A	11.54	1.670179	0.29693	.	.	ENSG00000206190	ENST00000356865	T	0.40476	1.03	5.41	5.41	0.78517	.	0.165674	0.41396	D	0.000899	T	0.34600	0.0903	L	0.29908	0.895	0.58432	D	0.999992	B	0.14012	0.009	B	0.12156	0.007	T	0.10800	-1.0614	10	0.56958	D	0.05	-11.9684	15.4508	0.75271	1.0:0.0:0.0:0.0	.	1299	O60312	AT10A_HUMAN	G	1299	ENSP00000349325:V1299G	ENSP00000349325:V1299G	V	-	2	0	ATP10A	23476185	0.962000	0.33011	0.413000	0.26509	0.030000	0.12068	6.988000	0.76212	2.047000	0.60756	0.533000	0.62120	GTT	ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.498	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1		0	42	0	A	NM_024490		25925092	-1			no_errors	ENST00000356865	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.739	C	C	25925092	A	C	25925092	3	2	148	1	0	0	0	0	1	0	0	0	1117	43	2	4	607	4	ATP10A	15	25925092	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09		25925092	76606300	136	37791											
PGBD4	161779	genome.wustl.edu	37	chr15	34396468	34396468	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttccgtgctttgaaatttAccacacgaaaaaaaattatt	15	14	5	7	2	0	1	0	1	0	0	1	2	1	1	2	0	2	2	2	0	7	6			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr15:34396468A>G	ENST00000397766.2	+	1	2195	c.1736A>G	c.(1735-1737)tAc>tGc	p.Y579C	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	579										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TTTGAAATTTACCACACGAAA	0.393																																																	0													107	92	97					15																	34396468		2201	4298	6499	SO:0001583	missense	0			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1736A>G	15.37:g.34396468A>G	ENSP00000380872:p.Tyr579Cys		A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	NULL	p.Y579C	ENST00000397766.2	37	c.1736	CCDS10033.1	15	.	.	.	.	.	.	.	.	.	.	a	13.53	2.264757	0.40095	.	.	ENSG00000182405	ENST00000397766	T	0.27557	1.66	1.16	-2.1	0.07210	.	0.883647	0.08904	U	0.876810	T	0.35970	0.0950	M	0.64170	1.965	0.23473	N	0.99761	D	0.63046	0.992	P	0.54460	0.753	T	0.22836	-1.0205	10	0.52906	T	0.07	.	2.1287	0.03745	0.5485:0.0:0.1978:0.2537	.	579	Q96DM1	PGBD4_HUMAN	C	579	ENSP00000380872:Y579C	ENSP00000380872:Y579C	Y	+	2	0	PGBD4	32183760	0.972000	0.33761	0.023000	0.16930	0.362000	0.29581	-0.023000	0.12456	-0.625000	0.05604	0.255000	0.18592	TAC	PGBD4	-	NULL	ENSG00000182405		0.393	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PGBD4	HGNC	protein_coding	OTTHUMT00000251522.1		0	36	0	A			34396468	1			no_errors	ENST00000397766	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.753	G	G	34396468	A	G	34396468	3	3	148	1	0	0	0	0	1	0	0	0	11822	391	14	4	1738	4	PGBD4	15	34396468	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	8471376	34396468	68134924	137	37792											
HERC1	8925	genome.wustl.edu	37	chr15	63961885	63961885	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtggtagttgggtaactAgagaacatttgcctttaaga	13	12	11	5	0	0	2	0	0	0	2	0	3	0	2	1	2	3	3	1	2	5	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr15:63961885A>G	ENST00000443617.2	-	40	8145	c.8058T>C	c.(8056-8058)tcT>tcC	p.S2686S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2686					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						TTGGGTAACTAGAGAACATTT	0.388																																																	0													129	131	131					15																	63961885		1899	4127	6026	SO:0001819	synonymous_variant	0			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.8058T>C	15.37:g.63961885A>G			Q8IW65	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.S2686	ENST00000443617.2	37	c.8058	CCDS45277.1	15																																																																																			HERC1	-	NULL	ENSG00000103657		0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	47	0	A	NM_003922		63961885	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	silent	39.62	32	21	SNP	0.999	G	G	63961885	A	G	63961885	2	3	148	1	0	0	0	0	0	0	0	1	7084	407	15	4		4	HERC1	15	63961885	Silent	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	29565417	63961885	38569507	138	37793											
LRRC49	54839	genome.wustl.edu	37	chr15	71329592	71329592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacgaagaaaataatgacaGcaaaagacttgtaggagaaa	22	5	9	5	1	0	4	0	1	0	3	0	6	0	4	0	1	2	2	0	1	9	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr15:71329592G>A	ENST00000260382.5	+	15	2038	c.1778G>A	c.(1777-1779)aGc>aAc	p.S593N	LRRC49_ENST00000544974.2_Missense_Mutation_p.S583N|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Missense_Mutation_p.S299N|LRRC49_ENST00000560158.2_Missense_Mutation_p.S281N|LRRC49_ENST00000443425.2_Missense_Mutation_p.S549N|LRRC49_ENST00000560369.1_Missense_Mutation_p.S598N	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	593						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						AATAATGACAGCAAAAGACTT	0.303																																																	0													85	93	90					15																	71329592		2199	4295	6494	SO:0001583	missense	0				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.1778G>A	15.37:g.71329592G>A	ENSP00000260382:p.Ser593Asn		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S593N	ENST00000260382.5	37	c.1778	CCDS32282.1	15	.	.	.	.	.	.	.	.	.	.	G	9.504	1.103877	0.20632	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.34275	1.38;1.39;1.37	5.04	2.1	0.27182	.	0.227387	0.43919	N	0.000503	T	0.13200	0.0320	N	0.02960	-0.455	0.24599	N	0.993781	B;B;B;B;B	0.12630	0.002;0.004;0.006;0.002;0.001	B;B;B;B;B	0.13407	0.004;0.009;0.009;0.004;0.004	T	0.25950	-1.0117	10	0.18276	T	0.48	-8.3176	7.4702	0.27344	0.3528:0.0:0.6472:0.0	.	598;565;549;593;583	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	N	583;593;549;565	ENSP00000439600:S583N;ENSP00000260382:S593N;ENSP00000414065:S549N	ENSP00000260382:S593N	S	+	2	0	LRRC49	69116646	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	1.833000	0.39161	0.523000	0.28482	0.655000	0.94253	AGC	LRRC49	-	NULL	ENSG00000137821		0.303	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRC49	HGNC	protein_coding	OTTHUMT00000417209.3	-	0	37	0	G	NM_017691		71329592	1	tier1	-	no_errors	ENST00000260382	ensembl	human	known	74_37	missense	31.67	41	19	SNP	0.972	A	A	71329592	G	A	71329592	3	1	148	1	0	0	0	0	1	0	0	0	9041	971	34	3	1836	3	LRRC49	15	71329592	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	7367707	71329592	31201800	139	37794											
C15orf39	56905	genome.wustl.edu	37	chr15	75498677	75498677	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgcctgttctaccgctcGccagcagaaggccctgagaa	10	7	10	14	2	1	2	0	1	1	2	2	3	1	2	4	1	4	3	4	1	4	2	rs200766020	byFrequency	TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr15:75498677G>T	ENST00000360639.2	+	2	608	c.288G>T	c.(286-288)tcG>tcT	p.S96S	C15orf39_ENST00000567617.1_Silent_p.S96S|C15orf39_ENST00000394987.4_Silent_p.S96S			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	96						cytoplasm (GO:0005737)		p.S96S(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TCTACCGCTCGCCAGCAGAAG	0.622																																																	1	Substitution - coding silent(1)	large_intestine(1)											61	49	53					15																	75498677		2197	4295	6492	SO:0001819	synonymous_variant	0			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.288G>T	15.37:g.75498677G>T			B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	NULL	p.S96	ENST00000360639.2	37	c.288	CCDS10276.1	15																																																																																			C15orf39	-	NULL	ENSG00000167173		0.622	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	HGNC	protein_coding	OTTHUMT00000286410.1		0	46	0	G	NM_015492		75498677	1			no_errors	ENST00000360639	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.000	T	T	75498677	G	T	75498677	2	4	148	1	0	0	0	0	0	0	0	1	1798	1074	38	2		2	C15orf39	15	75498677	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	4169085	75498677	27032715	140	37795											
SIN3A	25942	genome.wustl.edu	37	chr15	75692464	75692464	+	Missense_Mutation	SNP	A	A	C	1	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	aaaggtagagtcctcagaccAcgaagggaaggaaacccagg	16	3	13	9	1	1	2	1	0	0	2	2	5	2	4	3	4	1	1	3	4	5	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr15:75692464A>C	ENST00000394947.3	-	12	2085	c.1771T>G	c.(1771-1773)Tgg>Ggg	p.W591G	SIN3A_ENST00000360439.4_Missense_Mutation_p.W591G|SIN3A_ENST00000394949.4_Missense_Mutation_p.W591G	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						TCCTCAGACCACGAAGGGAAG	0.398																																																	0													97	92	93					15																	75692464		2197	4294	6491	SO:0001583	missense	0			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.1771T>G	15.37:g.75692464A>C	ENSP00000378402:p.Trp591Gly			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.W591G	ENST00000394947.3	37	c.1771	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725030	0.89298	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.49432	0.78;0.78;0.78	6.08	6.08	0.98989	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.54669	-0.8259	10	0.20046	T	0.44	-9.6549	15.8323	0.78764	1.0:0.0:0.0:0.0	.	591	Q96ST3	SIN3A_HUMAN	G	591	ENSP00000378402:W591G;ENSP00000378403:W591G;ENSP00000353622:W591G	ENSP00000353622:W591G	W	-	1	0	SIN3A	73479517	1.000000	0.71417	0.951000	0.38953	0.995000	0.86356	9.338000	0.96553	2.333000	0.79357	0.482000	0.46254	TGG	SIN3A	-	pfam_HDAC_interact,smart_HDAC_interact	ENSG00000169375		0.398	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1		0	58	0	A	NM_015477		75692464	-1			no_errors	ENST00000360439	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	C	C	75692464	A	C	75692464	3	2	148	1	0	0	0	0	1	0	0	0	14370	159	6	4	2090	4	SIN3A	15	75692464	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	193787	75692464	26838928	141	37796											
MEX3B	84206	genome.wustl.edu	37	chr15	82335815	82335815	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtaggccaggcctcctcCacccgggtcgctgcgcaccc	4	5	13	19	4	0	0	0	0	0	0	3	0	2	0	6	4	1	3	6	4	1	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr15:82335815C>A	ENST00000329713.4	-	2	1831	c.1396G>T	c.(1396-1398)Gga>Tga	p.G466*	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	466					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						AGGCCTCCTCCACCCGGGTCG	0.726																																																	0													13	14	14					15																	82335815		2081	4042	6123	SO:0001587	stop_gained	0			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.1396G>T	15.37:g.82335815C>A	ENSP00000329918:p.Gly466*		Q4G0W1|Q8IVG2|Q9H0J0	Nonsense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.G466*	ENST00000329713.4	37	c.1396	CCDS10319.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.618598	0.97709	.	.	ENSG00000183496	ENST00000329713	.	.	.	4.7	4.7	0.59300	.	0.212799	0.40908	D	0.000990	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-3.0031	16.5729	0.84629	0.0:1.0:0.0:0.0	.	.	.	.	X	466	.	ENSP00000329918:G466X	G	-	1	0	MEX3B	80122870	0.492000	0.26027	0.974000	0.42286	0.195000	0.23768	1.218000	0.32467	2.440000	0.82611	0.561000	0.74099	GGA	MEX3B	-	NULL	ENSG00000183496		0.726	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3B	HGNC	protein_coding	OTTHUMT00000304000.1		0	31	0	C	XM_290645		82335815	-1			no_errors	ENST00000329713	ensembl	human	known	74_37	nonsense	11.54	23	3	SNP	0.989	A	A	82335815	C	A	82335815	4	1	148	1	0	0	0	0	0	1	0	0	9548	603	21	3	317	3	MEX3B	15	82335815	Nonsense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	6643351	82335815	20195577	142	37797											
NTRK3	4916	genome.wustl.edu	37	chr15	88799367	88799367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaaactacacttggctggGcaaagagagacatccatctc	14	7	9	11	0	1	3	0	0	1	3	3	4	2	3	1	2	2	2	1	2	3	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr15:88799367G>A	ENST00000360948.2	-	2	179	c.18C>T	c.(16-18)tgC>tgT	p.C6C	NTRK3_ENST00000557856.1_Silent_p.C6C|NTRK3_ENST00000357724.2_Silent_p.C6C|NTRK3_ENST00000540489.2_Silent_p.C6C|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000317501.3_Silent_p.C6C|NTRK3_ENST00000558676.1_Silent_p.C6C|NTRK3_ENST00000394480.2_Silent_p.C6C|NTRK3_ENST00000355254.2_Silent_p.C6C	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	6					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)			ACTTGGCTGGGCAAAGAGAGA	0.587			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													156	134	141					15																	88799367		2201	4299	6500	SO:0001819	synonymous_variant	0			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.18C>T	15.37:g.88799367G>A			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C6	ENST00000360948.2	37	c.18	CCDS32322.1	15																																																																																			NTRK3	-	prints_Tyr_kin_neurotrophic_rcpt_3	ENSG00000140538		0.587	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		-	0	64	0	G			88799367	-1	tier1	-	no_errors	ENST00000360948	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	A	A	88799367	G	A	88799367	2	1	148	1	0	0	0	0	0	0	0	1	10747	1195	42	3		3	NTRK3	15	88799367	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	6463552	88799367	13732025	143	37798											
RPS2	6187	genome.wustl.edu	37	chr16	2014594	2014594	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccaccagggcccccGggcccccccgctgcaccggc	4	1	13	23	3	0	0	0	0	0	0	0	0	0	0	9	4	1	2	9	4	0	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr16:2014594G>T	ENST00000343262.4	-	2	89	c.33C>A	c.(31-33)ccC>ccA	p.P11P	RNF151_ENST00000569714.1_5'Flank|SNHG9_ENST00000459373.1_lincRNA|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000529806.1_Silent_p.P11P|RPS2_ENST00000526522.1_Silent_p.P11P|RPS2_ENST00000530225.1_Silent_p.P11P|SNORA64_ENST00000384674.1_RNA|RNF151_ENST00000569210.2_5'Flank|RNF151_ENST00000321392.3_5'Flank	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	11					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CAGGGCCCCCGGGCCCCCCCG	0.721																																																	0													8	10	10					16																	2014594		1456	3293	4749	SO:0001819	synonymous_variant	0			AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"S ribosomal proteins"	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.33C>A	16.37:g.2014594G>T			B2R5G0|D3DU82|Q3MIB1	Silent	SNP	pfam_Ribosomal_S5_N,pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N,tigrfam_Ribosomal_S5_euk/arc	p.P11	ENST00000343262.4	37	c.33	CCDS10452.1	16																																																																																			RPS2	-	NULL	ENSG00000140988		0.721	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS2	HGNC	protein_coding	OTTHUMT00000250613.2	-	0	35	0	G	NM_002952		2014594	-1	tier1	-	no_errors	ENST00000343262	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.951	T	T	2014594	G	T	2014594	2	4	148	1	0	0	0	0	0	0	0	1	13676	1103	39	2		2	RPS2	16	2014594	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		2014594	88340159	144	37799											
SRRM2	23524	genome.wustl.edu	37	chr16	2816651	2816651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccactgttaccacgcaaacGttctcgaagtcgctcaccac	10	8	7	16	4	2	0	1	0	1	0	4	1	2	0	3	0	2	4	3	0	3	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr16:2816651G>A	ENST00000301740.8	+	11	6671	c.6122G>A	c.(6121-6123)cGt>cAt	p.R2041H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2041	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						CCACGCAAACGTTCTCGAAGT	0.597																																																	0													73	64	67					16																	2816651		2198	4300	6498	SO:0001583	missense	0			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.6122G>A	16.37:g.2816651G>A	ENSP00000301740:p.Arg2041His		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R2041H	ENST00000301740.8	37	c.6122	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103458	0.37145	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.24538	1.85	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000006	T	0.29684	0.0741	N	0.08118	0	0.36688	D	0.879449	D	0.76494	0.999	P	0.62435	0.902	T	0.44283	-0.9338	10	0.59425	D	0.04	-7.6696	16.7947	0.85598	0.0:0.0:1.0:0.0	.	2041	Q9UQ35	SRRM2_HUMAN	H	2041;1293	ENSP00000301740:R2041H	ENSP00000301740:R2041H	R	+	2	0	SRRM2	2756652	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	4.489000	0.60309	2.572000	0.86782	0.650000	0.86243	CGT	SRRM2	-	NULL	ENSG00000167978		0.597	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0	27	0	G			2816651	1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.993	A	A	2816651	G	A	2816651	3	1	148	1	0	0	0	0	1	0	0	0	15216	1145	40	1	6160	1	SRRM2	16	2816651	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	802057	2816651	87538102	145	37800											
C16orf78	123970	genome.wustl.edu	37	chr16	49430393	49430393	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcggccaaacccattccgtCgacaaagcattgtcttagat	12	9	8	12	3	1	1	0	0	1	1	3	2	2	1	3	1	3	1	3	1	3	3	rs139737719		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr16:49430393C>T	ENST00000299191.3	+	4	571	c.454C>T	c.(454-456)Cga>Tga	p.R152*		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	152			R -> Q (in dbSNP:rs16947350).			nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CCCATTCCGTCGACAAAGCAT	0.498																																																	0								C	stop/ARG	0,4398		0,0,2199	103	94	97		454	0.8	0	16	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	C16orf78	NM_144602.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		152/266	49430393	1,12997	2199	4300	6499	SO:0001587	stop_gained	0			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.454C>T	16.37:g.49430393C>T	ENSP00000299191:p.Arg152*			Nonsense_Mutation	SNP	NULL	p.R152*	ENST00000299191.3	37	c.454	CCDS10738.1	16	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532305	0.64972	0.0	1.16E-4	ENSG00000166152	ENST00000299191	.	.	.	5.38	0.781	0.18561	.	0.417296	0.17889	N	0.158593	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.9266	5.8499	0.18687	0.5203:0.386:0.0:0.0936	.	.	.	.	X	152	.	.	R	+	1	2	C16orf78	47987894	0.000000	0.05858	0.007000	0.13788	0.016000	0.09150	0.323000	0.19593	0.651000	0.30788	0.655000	0.94253	CGA	C16orf78	-	NULL	ENSG00000166152		0.498	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf78	HGNC	protein_coding	OTTHUMT00000256846.1	-	0	42	0	C	NM_144602		49430393	1	tier1	rs139737719	no_errors	ENST00000299191	ensembl	human	known	74_37	nonsense	22.86	27	8	SNP	0.000	T	T	49430393	C	T	49430393	4	4	148	1	0	0	0	0	0	1	0	0	1840	876	31	1	468	1	C16orf78	16	49430393	Nonsense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	46613742	49430393	40924360	146	37801											
PLLP	51090	genome.wustl.edu	37	chr16	57295866	57295866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaacaggtagaggttGaagaggacgattgtcaccag	14	7	14	6	1	1	4	1	2	0	2	1	6	1	5	1	3	2	3	1	3	3	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr16:57295866G>T	ENST00000219207.5	-	2	398	c.252C>A	c.(250-252)ttC>ttA	p.F84L	PLLP_ENST00000569059.1_Intron	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	84	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				ion transport (GO:0006811)|myelination (GO:0042552)|response to wounding (GO:0009611)	compact myelin (GO:0043218)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)				endometrium(1)|prostate(1)	2						GGTAGAGGTTGAAGAGGACGA	0.567																																																	0													165	123	137					16																	57295866		2198	4300	6498	SO:0001583	missense	0			AF137386	CCDS10777.1	16q13	2010-06-24	2010-06-24	2005-03-21	ENSG00000102934	ENSG00000102934			18553	protein-coding gene	gene with protein product	"plasma membrane proteolipid"	600340	"transmembrane 4 superfamily member 11 (plasmolipin)", "plasma membrane proteolipid (plasmolipin)"	TM4SF11		11707781	Standard	NM_015993		Approved	PMLP	uc002elg.2	Q9Y342	OTTHUMG00000133465	ENST00000219207.5:c.252C>A	16.37:g.57295866G>T	ENSP00000219207:p.Phe84Leu		B2R9T6	Missense_Mutation	SNP	pfam_Marvel,prints_MAL	p.F84L	ENST00000219207.5	37	c.252	CCDS10777.1	16	.	.	.	.	.	.	.	.	.	.	G	6.797	0.516044	0.12944	.	.	ENSG00000102934	ENST00000219207	T	0.16743	2.32	5.62	1.52	0.23074	Marvel (1);MARVEL-like domain (1);	0.047210	0.85682	D	0.000000	T	0.10981	0.0268	L	0.37850	1.14	0.80722	D	1	P	0.43431	0.807	B	0.41946	0.371	T	0.18587	-1.0332	10	0.02654	T	1	-5.0403	9.3092	0.37893	0.4258:0.0:0.5742:0.0	.	84	Q9Y342	PLLP_HUMAN	L	84	ENSP00000219207:F84L	ENSP00000219207:F84L	F	-	3	2	PLLP	55853367	0.958000	0.32768	0.144000	0.22314	0.110000	0.19582	1.488000	0.35551	0.066000	0.16515	0.561000	0.74099	TTC	PLLP	-	pfam_Marvel	ENSG00000102934		0.567	PLLP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLLP	HGNC	protein_coding	OTTHUMT00000257341.2	-	0	97	0	G			57295866	-1	tier1	-	no_errors	ENST00000219207	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.549	T	T	57295866	G	T	57295866	3	4	148	1	0	0	0	0	1	0	0	0	12138	1281	45	3	308	3	PLLP	16	57295866	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	7865473	57295866	33058887	147	37802											
DOK4	55715	genome.wustl.edu	37	chr16	57507547	57507547	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatagctggaggcttcggcGatgttctgggaaccagtgat	8	10	15	8	2	1	1	0	1	1	0	2	4	1	3	1	4	2	4	1	4	2	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr16:57507547G>A	ENST00000340099.4	-	8	1211	c.840C>T	c.(838-840)atC>atT	p.I280I	DOK4_ENST00000569548.1_Silent_p.I280I|DOK4_ENST00000561918.1_5'Flank|DOK4_ENST00000566936.1_Silent_p.I280I	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	280					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						AGGCTTCGGCGATGTTCTGGG	0.592																																																	0													158	141	147					16																	57507547		2198	4300	6498	SO:0001819	synonymous_variant	0			BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"Pleckstrin homology (PH) domain containing"	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.840C>T	16.37:g.57507547G>A			O75209|Q9BTP2|Q9NVV3	Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.I280	ENST00000340099.4	37	c.840	CCDS10783.1	16																																																																																			DOK4	-	NULL	ENSG00000125170		0.592	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK4	HGNC	protein_coding	OTTHUMT00000257335.3	-	0	35	0	G			57507547	-1	tier1	-	no_errors	ENST00000340099	ensembl	human	known	74_37	silent	11.90	37	5	SNP	0.611	A	A	57507547	G	A	57507547	2	1	148	1	0	0	0	0	0	0	0	1	4713	1048	37	1		1	DOK4	16	57507547	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	211681	57507547	32847206	148	37803											
KATNB1	3801	genome.wustl.edu	37	chr16	57789353	57789353	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtggtgctcaccagcCgccacaagaacctggacact	9	8	11	13	1	1	1	1	0	0	1	1	2	1	2	4	2	3	1	4	2	2	0	rs373753943		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr16:57789353C>T	ENST00000379655.4	-	0	3427				KATNB1_ENST00000379661.3_Missense_Mutation_p.R505C	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GCTCACCAGCCGCCACAAGAA	0.642																																																	0								C	CYS/ARG	1,4395	2.1+/-5.4	0,1,2197	104	93	96		1513	5.1	1	16		96	0,8598		0,0,4299	no	missense	KATNB1	NM_005886.2	180	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	505/656	57789353	1,12993	2198	4299	6497	SO:0001628	intergenic_variant	0			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455		16.37:g.57789353C>T			A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R505C	ENST00000379655.4	37	c.1513	CCDS10789.2	16	.	.	.	.	.	.	.	.	.	.	C	32	5.111581	0.94339	2.27E-4	0.0	ENSG00000140854	ENST00000379661	T	0.79554	-1.28	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.91593	0.7344	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93359	0.6725	10	0.87932	D	0	-14.678	17.4143	0.87495	0.0:1.0:0.0:0.0	.	505	Q9BVA0	KTNB1_HUMAN	C	505	ENSP00000368982:R505C	ENSP00000368982:R505C	R	+	1	0	KATNB1	56346854	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.414000	0.80117	2.371000	0.80710	0.561000	0.74099	CGC	KATNB1	-	NULL	ENSG00000140854		0.642	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KATNB1	HGNC	protein_coding	OTTHUMT00000257329.2		0	53	0	C	NM_005550		57789353	1			no_errors	ENST00000379661	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	57789353	C	T	57789353	1	4	148	0	1	0	0	0	0	0	0	0	8014	652	23	1		1	KATNB1	16	57789353	IGR	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	281806	57789353	32565400	149	37804											
NFAT5	10725	genome.wustl.edu	37	chr16	69726422	69726422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacgttatctaatcaacaGcagcagcagcagcagcaaca	17	5	7	12	1	2	0	1	0	1	0	2	0	2	0	0	0	9	7	0	0	5	2	rs369235958		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr16:69726422G>A	ENST00000354436.2	+	12	2958	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	NFAT5_ENST00000432919.1_Silent_p.Q898Q|NFAT5_ENST00000567239.1_Silent_p.Q897Q|NFAT5_ENST00000566899.1_Silent_p.Q804Q|NFAT5_ENST00000393742.2_Silent_p.Q804Q|NFAT5_ENST00000349945.1_Silent_p.Q804Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	880	Poly-Gln.				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)	p.Q804Q(1)|p.Q898Q(1)		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						CTAATcaacagcagcagcagc	0.478																																																	2	Substitution - coding silent(2)	endometrium(2)											44	43	43					16																	69726422		2198	4300	6498	SO:0001819	synonymous_variant	0			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.2640G>A	16.37:g.69726422G>A			A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.Q898	ENST00000354436.2	37	c.2694	CCDS10881.1	16																																																																																			NFAT5	-	NULL	ENSG00000102908		0.478	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2		0	28	0	G	NM_138714		69726422	1			no_errors	ENST00000432919	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.988	A	A	69726422	G	A	69726422	2	1	148	1	0	0	0	0	0	0	0	1	10399	962	34	3		3	NFAT5	16	69726422	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	11937069	69726422	20628331	150	37805											
LDHD	84937	genome.wustl.edu	37	chr16	75146326	75146326	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccgcatggtctccacGcccacggcgcccacctcctc	5	6	9	21	4	1	0	0	0	1	0	4	0	2	0	6	2	2	2	6	2	0	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr16:75146326G>A	ENST00000335325.4	+	0	4620				LDHD_ENST00000300051.4_Silent_p.G484G|LDHD_ENST00000450168.2_Silent_p.G461G|RP11-252E2.1_ENST00000499110.1_RNA	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						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						TGGTCTCCACGCCCACGGCGC	0.657																																																	0													31	32	31					16																	75146326		2197	4299	6496	SO:0001628	intergenic_variant	0			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		16.37:g.75146326G>A			D3DUJ9|Q9H083	Silent	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2	p.G484	ENST00000335325.4	37	c.1452	CCDS10912.1	16																																																																																			LDHD	-	pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C	ENSG00000166816		0.657	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDHD	HGNC	protein_coding	OTTHUMT00000269020.2	-	0	43	0	G			75146326	-1	tier1	-	no_errors	ENST00000300051	ensembl	human	known	74_37	silent	11.76	60	8	SNP	0.009	A	A	75146326	G	A	75146326	1	1	148	0	1	0	0	0	0	0	0	0	8731	1074	38	1		1	LDHD	16	75146326	IGR	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	5419904	75146326	15208427	151	37806											
ATMIN	23300	genome.wustl.edu	37	chr16	81078006	81078006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccagaaccccggaatcGattttgatatcgaagagttc	12	9	9	11	3	0	3	0	1	0	2	3	6	0	4	3	1	2	1	3	1	4	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr16:81078006G>T	ENST00000299575.4	+	4	1927	c.1903G>T	c.(1903-1905)Gat>Tat	p.D635Y	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.D479Y|ATMIN_ENST00000566488.1_Missense_Mutation_p.D479Y	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	635					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						CCCCGGAATCGATTTTGATAT	0.498																																																	0													37	40	39					16																	81078006		2202	4300	6502	SO:0001583	missense	0			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.1903G>T	16.37:g.81078006G>T	ENSP00000299575:p.Asp635Tyr		A8K4H8|Q68DC9	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.D635Y	ENST00000299575.4	37	c.1903	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257489	0.59321	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.50548	0.74	6.17	6.17	0.99709	.	0.042297	0.85682	D	0.000000	T	0.71660	0.3366	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.71616	-0.4539	10	0.87932	D	0	-27.8069	20.8794	0.99867	0.0:0.0:1.0:0.0	.	635	O43313	ATMIN_HUMAN	Y	635;406	ENSP00000299575:D635Y	ENSP00000299575:D635Y	D	+	1	0	ATMIN	79635507	1.000000	0.71417	0.984000	0.44739	0.185000	0.23345	9.298000	0.96132	2.941000	0.99782	0.655000	0.94253	GAT	ATMIN	-	NULL	ENSG00000166454		0.498	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1	-	0	81	0	G	NM_015251		81078006	1	tier1	-	no_errors	ENST00000299575	ensembl	human	known	74_37	missense	14.13	79	13	SNP	1.000	T	T	81078006	G	T	81078006	3	4	148	1	0	0	0	0	1	0	0	0	1111	1058	37	2	1917	2	ATMIN	16	81078006	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	5931680	81078006	9276747	152	37807											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	0	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	35	0	C	NM_000546		7578406	-1	tier1	rs28934578	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	T	T	7578406	C	T	7578406	3	4	148	1	0	0	0	0	1	0	0	0	16429	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09		7578406	73616804	153	37808											
DNAH2	146754	genome.wustl.edu	37	chr17	7646279	7646279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttcctgccccgtattGggactggaaaggagagtgtg	8	11	13	9	1	1	1	1	0	0	1	2	4	2	3	3	3	1	1	3	3	2	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:7646279G>T	ENST00000572933.1	+	12	3183	c.1723G>T	c.(1723-1725)Ggg>Tgg	p.G575W	DNAH2_ENST00000082259.3_Missense_Mutation_p.G657W|DNAH2_ENST00000389173.2_Missense_Mutation_p.G575W|DNAH2_ENST00000570791.1_Missense_Mutation_p.G657W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	575	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCCCGTATTGGGACTGGAAA	0.557																																																	0													72	58	63					17																	7646279		2203	4300	6503	SO:0001583	missense	0			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.1723G>T	17.37:g.7646279G>T	ENSP00000458355:p.Gly575Trp		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G575W	ENST00000572933.1	37	c.1723	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521727	0.64747	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.55413	0.52;0.52	5.34	5.34	0.76211	Dynein heavy chain, domain-1 (1);	0.297481	0.33834	N	0.004502	T	0.71195	0.3311	M	0.72118	2.19	0.25173	N	0.990267	D;D	0.69078	0.993;0.997	D;D	0.65573	0.913;0.936	T	0.66340	-0.5948	10	0.72032	D	0.01	.	17.8064	0.88602	0.0:0.0:1.0:0.0	.	575;657	Q9P225;Q9P225-3	DYH2_HUMAN;.	W	575;575;657	ENSP00000373825:G575W;ENSP00000082259:G657W	ENSP00000082259:G657W	G	+	1	0	DNAH2	7587004	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	3.360000	0.52299	2.513000	0.84729	0.563000	0.77884	GGG	DNAH2	-	pfam_Dynein_heavy_dom-1	ENSG00000183914		0.557	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	-	0	41	0	G	NM_020877		7646279	1	tier1	-	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.962	T	T	7646279	G	T	7646279	3	4	148	1	0	0	0	0	1	0	0	0	4616	1348	47	3	1765	3	DNAH2	17	7646279	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	67873	7646279	73548931	154	37809											
WDR16	146845	genome.wustl.edu	37	chr17	9490147	9490147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactaggaggcccagatgacGgaaggtaatgaactaaacat	16	6	11	8	1	0	3	0	2	0	1	0	5	0	5	1	4	2	1	1	4	6	3	rs372458377		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:9490147G>A	ENST00000352665.5	+	3	472	c.403G>A	c.(403-405)Gga>Aga	p.G135R	WDR16_ENST00000396219.3_Missense_Mutation_p.G67R|WDR16_ENST00000299764.5_Missense_Mutation_p.G145R|WDR16_ENST00000576499.1_3'UTR	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CCCAGATGACGGAAGGTAATG	0.378																																																	0								G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	69	66	67		199,403	5.7	1	17		67	0,8600		0,0,4300	no	missense,missense	WDR16	NM_001080556.1,NM_145054.4	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	67/553,135/621	9490147	1,13005	2203	4300	6503	SO:0001583	missense	0			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.403G>A	17.37:g.9490147G>A	ENSP00000339449:p.Gly135Arg			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G145R	ENST00000352665.5	37	c.433	CCDS11149.2	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779634	0.90195	2.27E-4	0.0	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.63744	-0.06;-0.06;-0.06	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.091794	0.85682	D	0.000000	T	0.74374	0.3708	L	0.47190	1.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.78314	0.973;0.991;0.846	T	0.71227	-0.4655	10	0.37606	T	0.19	-16.2541	18.5891	0.91202	0.0:0.0:1.0:0.0	.	145;67;135	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	R	135;67;145	ENSP00000339449:G135R;ENSP00000379521:G67R;ENSP00000299764:G145R	ENSP00000299764:G145R	G	+	1	0	WDR16	9430872	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.268000	0.95675	2.690000	0.91761	0.455000	0.32223	GGA	WDR16	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000166596		0.378	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR16	HGNC	protein_coding	OTTHUMT00000316569.2		0	50	0	G	NM_145054		9490147	1			no_errors	ENST00000299764	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A	A	9490147	G	A	9490147	3	1	148	1	0	0	0	0	1	0	0	0	17325	1117	39	1	413	1	WDR16	17	9490147	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	1843868	9490147	71705063	155	37810											
DNAH9	1770	genome.wustl.edu	37	chr17	11778484	11778484	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaagatctccgggtcacGcagattggtcagaaagggta	11	8	15	7	2	3	4	2	1	1	3	4	4	3	4	1	4	0	2	1	4	3	2	rs547085612		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:11778484G>T	ENST00000262442.4	+	53	10529	c.10461G>T	c.(10459-10461)acG>acT	p.T3487T	RP11-628O18.1_ENST00000579621.1_RNA|DNAH9_ENST00000454412.2_Silent_p.T3487T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3487	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCGGGTCACGCAGATTGGTC	0.458																																																	0													72	62	65					17																	11778484		2203	4300	6503	SO:0001819	synonymous_variant	0			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.10461G>T	17.37:g.11778484G>T			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T3487	ENST00000262442.4	37	c.10461	CCDS11160.1	17																																																																																			DNAH9	-	superfamily_P-loop_NTPase	ENSG00000007174		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0	32	0	G	NM_001372		11778484	1			no_errors	ENST00000262442	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.991	T	T	11778484	G	T	11778484	2	4	148	1	0	0	0	0	0	0	0	1	4622	1074	38	2		2	DNAH9	17	11778484	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	2288337	11778484	69416726	156	37811											
NOS2	4843	genome.wustl.edu	37	chr17	26115859	26115859	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttggccttatggtgaagtgtGtcttggaaagtcatcccgct	7	14	12	8	1	2	1	1	1	1	0	3	2	3	2	2	3	0	1	2	3	3	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:26115859G>T	ENST00000313735.6	-	4	527	c.294C>A	c.(292-294)gaC>gaA	p.D98E		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	98					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)	GGTGAAGTGTGTCTTGGAAAG	0.537																																																	0													159	155	157					17																	26115859		2203	4300	6503	SO:0001583	missense	0			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.294C>A	17.37:g.26115859G>T	ENSP00000327251:p.Asp98Glu		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.D98E	ENST00000313735.6	37	c.294	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051151	0.75960	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.25912	1.77	5.95	2.89	0.33648	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	M	0.82823	2.61	0.45118	D	0.998135	P;D	0.69078	0.951;0.997	P;D	0.79784	0.664;0.993	T	0.54450	-0.8292	10	0.62326	D	0.03	.	10.9549	0.47351	0.2045:0.0:0.7955:0.0	.	98;98	F8WEM3;P35228	.;NOS2_HUMAN	E	98	ENSP00000327251:D98E	ENSP00000305638:D98E	D	-	3	2	NOS2	23139986	1.000000	0.71417	0.981000	0.43875	0.914000	0.54420	1.162000	0.31786	0.866000	0.35629	-0.142000	0.14014	GAC	NOS2	-	superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000007171		0.537	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	-	0	57	0	G	NM_000625		26115859	-1	tier1	-	no_errors	ENST00000313735	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	26115859	G	T	26115859	3	4	148	1	0	0	0	0	1	0	0	0	10582	1368	48	3	3263	3	NOS2	17	26115859	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	14337375	26115859	55079351	157	37812											
CCL14	6358	genome.wustl.edu	37	chr17	34311384	34311384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taccacctacacaattccggGcttggagcactggctgttgg	8	10	11	12	1	0	0	0	0	0	0	1	1	1	1	3	4	3	4	3	4	3	5			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:34311384G>A	ENST00000394509.4	-	2	292	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S	CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000586216.1_Missense_Mutation_p.P62S|CTB-186H2.3_ENST00000591669.1_5'Flank|CCL14_ENST00000536149.1_Missense_Mutation_p.P78S|CCL16_ENST00000293275.3_5'Flank|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000480944.2_Missense_Mutation_p.P84S|CCL14_ENST00000435911.2_Missense_Mutation_p.P78S			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	62					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAATTCCGGGCTTGGAGCAC	0.577																																																	0													101	85	91					17																	34311384		2203	4300	6503	SO:0001583	missense	0			Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"Chemokine ligands", "Endogenous ligands"	10612	protein-coding gene	gene with protein product		601392	"small inducible cytokine subfamily A (Cys-Cys), member 14"	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.184C>T	17.37:g.34311384G>A	ENSP00000378017:p.Pro62Ser		E1P649|E1P650|Q13954	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.P78S	ENST00000394509.4	37	c.232	CCDS32624.1	17	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642956	0.47153	.	.	ENSG00000213494	ENST00000394509;ENST00000536149;ENST00000435911	T;T;T	0.05382	3.45;3.45;3.45	5.14	1.94	0.25998	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.426103	0.17280	U	0.180059	T	0.07863	0.0197	.	.	.	0.25234	N	0.989806	P;P	0.46912	0.773;0.886	P;P	0.44673	0.453;0.457	T	0.17961	-1.0352	9	0.62326	D	0.03	.	7.5211	0.27629	0.0884:0.3176:0.594:0.0	.	62;78	Q16627;Q16627-2	CCL14_HUMAN;.	S	62;78;78	ENSP00000378017:P62S;ENSP00000441771:P78S;ENSP00000409197:P78S	ENSP00000378017:P62S	P	-	1	0	CCL14	31335497	0.127000	0.22367	0.709000	0.30452	0.603000	0.37013	0.060000	0.14342	0.241000	0.21283	0.563000	0.77884	CCC	CCL14	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000213494		0.577	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL14	HGNC	protein_coding	OTTHUMT00000272892.2		0	50	0	G	NM_032962		34311384	-1			no_errors	ENST00000435911	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.992	A	A	34311384	G	A	34311384	3	1	148	1	0	0	0	0	1	0	0	0	2892	1203	42	3	105	3	CCL14	17	34311384	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	8195525	34311384	46883826	158	37813											
ACACA	31	genome.wustl.edu	37	chr17	35518897	35518897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgatgtcattgccaataAcaatgatatctcggccttct	11	14	7	9	1	3	2	1	2	2	0	4	2	3	2	2	1	2	0	2	1	4	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:35518897A>G	ENST00000394406.2	-	42	5226	c.5036T>C	c.(5035-5037)gTt>gCt	p.V1679A	ACACA_ENST00000335166.5_Missense_Mutation_p.V1601A|ACACA_ENST00000361253.5_5'Flank|ACACA_ENST00000353139.5_Missense_Mutation_p.V1716A|ACACA_ENST00000360679.3_Missense_Mutation_p.V1621A	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1679					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)	ATTGCCAATAACAATGATATC	0.418																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													94	86	89					17																	35518897		2203	4300	6503	SO:0001583	missense	0			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.5036T>C	17.37:g.35518897A>G	ENSP00000377928:p.Val1679Ala		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.V1716A	ENST00000394406.2	37	c.5147	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	A	29.7	5.024533	0.93518	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57	5.28	5.28	0.74379	Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.98551	0.9516	M	0.84156	2.68	0.80722	D	1	P;D;P;D	0.62365	0.917;0.988;0.954;0.991	P;D;P;P	0.65773	0.557;0.938;0.878;0.806	D	0.99211	1.0876	10	0.52906	T	0.07	-18.7795	15.504	0.75722	1.0:0.0:0.0:0.0	.	378;1716;1679;1621	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	A	1716;1621;1679;1703;1601;378	ENSP00000344789:V1716A;ENSP00000353898:V1621A;ENSP00000377928:V1679A;ENSP00000335323:V1601A	ENSP00000335323:V1601A	V	-	2	0	ACACA	32593010	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.131000	0.65755	0.383000	0.25322	GTT	ACACA	-	pfam_Carboxyl_trans	ENSG00000132142		0.418	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0	30	0	A	NM_198836		35518897	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	missense	32.65	33	16	SNP	1.000	G	G	35518897	A	G	35518897	3	3	148	1	0	0	0	0	1	0	0	0	106	43	2	4	2064	4	ACACA	17	35518897	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	1207513	35518897	45676313	159	37814											
KRT12	3859	genome.wustl.edu	37	chr17	39020032	39020032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcccgcatatcattgaGgagcctggtgaggtccactc	7	9	12	13	2	1	2	1	2	0	0	3	3	2	3	3	3	2	1	3	3	1	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:39020032G>T	ENST00000251643.4	-	4	915	c.892C>A	c.(892-894)Ctc>Atc	p.L298I	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	298	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	ATATCATTGAGGAGCCTGGTG	0.567																																																	0													52	54	54					17																	39020032		2203	4300	6503	SO:0001583	missense	0				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.892C>A	17.37:g.39020032G>T	ENSP00000251643:p.Leu298Ile		B2R9E0	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.L298I	ENST00000251643.4	37	c.892	CCDS11378.1	17	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339974	0.81911	.	.	ENSG00000187242	ENST00000251643	D	0.92299	-3.01	5.58	4.6	0.57074	Filament (1);	0.000000	0.45361	D	0.000368	D	0.95188	0.8440	M	0.79343	2.45	0.41057	D	0.985347	D	0.76494	0.999	D	0.68943	0.961	D	0.95321	0.8420	10	0.87932	D	0	.	12.2711	0.54706	0.1353:0.0:0.8647:0.0	.	298	Q99456	K1C12_HUMAN	I	298	ENSP00000251643:L298I	ENSP00000251643:L298I	L	-	1	0	KRT12	36273558	0.472000	0.25870	1.000000	0.80357	0.987000	0.75469	0.598000	0.24074	2.611000	0.88343	0.591000	0.81541	CTC	KRT12	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	ENSG00000187242		0.567	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT12	HGNC	protein_coding	OTTHUMT00000257214.2	-	0	36	0	G	NM_000223		39020032	-1	tier1	-	no_errors	ENST00000251643	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	39020032	G	T	39020032	3	4	148	1	0	0	0	0	1	0	0	0	8476	1000	35	3	612	3	KRT12	17	39020032	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	3501135	39020032	42175178	160	37815											
RAMP2	10266	genome.wustl.edu	37	chr17	40914461	40914461	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctatcgaaaaggattggtgCgactgggccatgattagcag	11	9	13	8	2	0	1	0	1	0	0	1	4	0	2	2	3	2	1	2	3	4	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:40914461C>T	ENST00000253796.5	+	3	320	c.252C>T	c.(250-252)tgC>tgT	p.C84C	RAMP2-AS1_ENST00000592670.1_lincRNA|RAMP2_ENST00000589683.1_Silent_p.C9C|RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000587142.1_Silent_p.C89C	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	84					adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	AGGATTGGTGCGACTGGGCCA	0.532																																																	0													119	110	113					17																	40914461		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"Receptor (G protein-coupled) activity modifying proteins"	9844	protein-coding gene	gene with protein product		605154	"receptor activity modifying protein 2", "receptor (calcitonin) activity modifying protein 2"				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.252C>T	17.37:g.40914461C>T			A7L9S6|K7EMD3|Q8N1F2	Silent	SNP	pfam_RAMP	p.C84	ENST00000253796.5	37	c.252	CCDS11437.1	17																																																																																			RAMP2	-	pfam_RAMP	ENSG00000131477		0.532	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAMP2	HGNC	protein_coding	OTTHUMT00000452380.1		0	54	0	C	NM_005854		40914461	1			no_errors	ENST00000253796	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.855	T	T	40914461	C	T	40914461	2	4	148	1	0	0	0	0	0	0	0	1	13067	776	27	1		1	RAMP2	17	40914461	Silent	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	1894429	40914461	40280749	161	37816											
NFE2L1	4779	genome.wustl.edu	37	chr17	46133894	46133894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggacacctgggcaggcgaGggcgcggaagctctggcacg	8	3	18	12	4	1	0	0	0	1	0	1	3	1	2	1	6	1	3	1	6	1	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:46133894G>T	ENST00000362042.3	+	3	1273	c.657G>T	c.(655-657)gaG>gaT	p.E219D	NFE2L1_ENST00000357480.5_Missense_Mutation_p.E219D|NFE2L1_ENST00000582155.1_Missense_Mutation_p.E61D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.E208D|NFE2L1_ENST00000583378.1_Missense_Mutation_p.E50D|NFE2L1_ENST00000536222.1_Missense_Mutation_p.E93D|NFE2L1_ENST00000585291.1_Missense_Mutation_p.E219D	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	219	Asp/Glu-rich (acidic).				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)	p.E219D(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGCAGGCGAGGGCGCGGAAG	0.617																																																	1	Substitution - Missense(1)	lung(1)											129	130	130					17																	46133894		2203	4300	6503	SO:0001583	missense	0			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.657G>T	17.37:g.46133894G>T	ENSP00000354855:p.Glu219Asp		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.E219D	ENST00000362042.3	37	c.657	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445439	0.63178	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.23147	2.32;1.92	5.41	3.39	0.38822	.	0.313169	0.27549	N	0.018864	T	0.17408	0.0418	L	0.27053	0.805	0.26801	N	0.969201	P;B;B;B	0.40794	0.729;0.247;0.175;0.369	B;B;B;B	0.38264	0.269;0.05;0.069;0.101	T	0.08722	-1.0708	10	0.59425	D	0.04	-37.7129	9.8693	0.41164	0.1674:0.0:0.8326:0.0	.	93;61;219;219	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	D	238;219;219;93	ENSP00000350072:E219D;ENSP00000445811:E93D	ENSP00000350072:E219D	E	+	3	2	NFE2L1	43488893	0.974000	0.33945	0.998000	0.56505	0.965000	0.64279	0.160000	0.16462	1.288000	0.44600	0.591000	0.81541	GAG	NFE2L1	-	NULL	ENSG00000082641		0.617	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1		0	66	0	G	NM_003204		46133894	1			no_errors	ENST00000362042	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	46133894	G	T	46133894	3	4	148	1	0	0	0	0	1	0	0	0	10406	991	35	3	663	3	NFE2L1	17	46133894	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	5219433	46133894	35061316	162	37817											
TRIM65	201292	genome.wustl.edu	37	chr17	73887368	73887369	+	In_Frame_Ins	INS	-	-	GGC																															gtgcttcacctgctggtcctINSggcgcgacagatagaagtga																								rs368015889		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:73887368_73887369insGGC	ENST00000269383.3	-	6	1110_1111	c.1045_1046insGCC	c.(1045-1047)cag>cGCCag	p.348_349insR		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	348	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)			CTGCTGGTCCTGGCGCGACAGA	0.619																																																	0																																										SO:0001652	inframe_insertion	0			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.1043_1045dupGCC	17.37:g.73887369_73887371dupGGC	ENSP00000269383:p.Arg348_Arg348dup		Q4G0F0|Q6DKJ6|Q9BRP6	In_Frame_Ins	INS	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.349in_frame_insR	ENST00000269383.3	37	c.1046_1045	CCDS11732.1	17																																																																																			TRIM65	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000141569		0.619	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM65	HGNC	protein_coding	OTTHUMT00000255170.2		0	73	0	-	NM_173547		73887369	-1	tier1		no_errors	ENST00000269383	ensembl	human	known	74_37	in_frame_ins	10.00	45	5	INS	0.279:0.224	GGC	GGC	73887369	-	GGC	73887368	7	5	148	1	0	1	1	0	0	0	0	0	16587	1580	55	0	511	0	TRIM65	17	73887368	In_Frame_Ins	INS	-	TCGA-R6-A8W5-01B-11D-A37C-09	27753474	73887368	7307842	163	37818											
TMC6	11322	genome.wustl.edu	37	chr17	76120749	76120749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagggtcttgagaaagagGaagtaggagagcacgctgga	14	5	17	5	1	1	3	0	1	1	3	1	7	1	5	0	4	2	4	0	4	3	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:76120749G>T	ENST00000590602.1	-	8	906	c.747C>A	c.(745-747)ttC>ttA	p.F249L	TMC6_ENST00000392467.3_Missense_Mutation_p.F249L|TMC6_ENST00000589553.1_Missense_Mutation_p.F22L|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Missense_Mutation_p.F249L|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000306591.7_Missense_Mutation_p.F249L			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	249					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)			TGAGAAAGAGGAAGTAGGAGA	0.672																																																	0													20	18	19					17																	76120749		2177	4245	6422	SO:0001583	missense	0			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.747C>A	17.37:g.76120749G>T	ENSP00000465261:p.Phe249Leu		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.F249L	ENST00000590602.1	37	c.747	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535903	0.85812	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	D;D;D	0.83992	-1.79;-1.79;-1.79	3.28	3.28	0.37604	.	0.137634	0.49305	D	0.000154	D	0.91095	0.7197	M	0.91406	3.205	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.995	D	0.91033	0.4865	10	0.72032	D	0.01	-30.4903	7.6768	0.28490	0.1241:0.0:0.8758:0.0	.	86;249;22;249	B4E003;Q7Z403-2;Q7Z403-4;Q7Z403	.;.;.;TMC6_HUMAN	L	249	ENSP00000313408:F249L;ENSP00000376260:F249L;ENSP00000306405:F249L	ENSP00000306405:F249L	F	-	3	2	TMC6	73632344	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.453000	0.60061	1.661000	0.50771	0.462000	0.41574	TTC	TMC6	-	NULL	ENSG00000141524		0.672	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	-	0	47	0	G			76120749	-1	tier1	-	no_errors	ENST00000322914	ensembl	human	known	74_37	missense	40.00	27	18	SNP	1.000	T	T	76120749	G	T	76120749	3	4	148	1	0	0	0	0	1	0	0	0	16036	1165	41	3	1722	3	TMC6	17	76120749	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	2233381	76120749	5074461	164	37819											
RPTOR	57521	genome.wustl.edu	37	chr17	78704398	78704398	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtccatatatgacctGcagacgtggatgggcagccc	8	9	11	13	1	1	2	0	1	1	1	2	3	2	3	4	2	2	2	4	2	2	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:78704398G>T	ENST00000306801.3	+	5	908	c.546G>T	c.(544-546)ctG>ctT	p.L182L	RPTOR_ENST00000570891.1_Silent_p.L182L|RPTOR_ENST00000544334.2_Silent_p.L182L|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	182					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)	p.L182L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TATATGACCTGCAGACGTGGA	0.532																																																	1	Substitution - coding silent(1)	urinary_tract(1)											150	105	120					17																	78704398		2203	4300	6503	SO:0001819	synonymous_variant	0				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.546G>T	17.37:g.78704398G>T			B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.L182	ENST00000306801.3	37	c.546	CCDS11773.1	17																																																																																			RPTOR	-	prints_Raptor	ENSG00000141564		0.532	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1		0	53	0	G	NM_020761		78704398	1			no_errors	ENST00000306801	ensembl	human	known	74_37	silent	7.89	35	3	SNP	1.000	T	T	78704398	G	T	78704398	2	4	148	1	0	0	0	0	0	0	0	1	13710	1306	46	3		3	RPTOR	17	78704398	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	2583649	78704398	2490812	165	37820											
DUS1L	64118	genome.wustl.edu	37	chr17	80016125	80016125	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggttttaaaaagcaatcCgtgacctggcagagcgagtg	11	11	12	7	2	0	2	0	1	0	1	1	3	1	2	2	2	2	3	2	2	4	3	rs144652762		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr17:80016125C>A	ENST00000354321.7	-	13	1773	c.1288G>T	c.(1288-1290)Gga>Tga	p.G430*	DUS1L_ENST00000306796.5_Nonsense_Mutation_p.G430*			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	430							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	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)			AAAAGCAATCCGTGACCTGGC	0.627																																																	0													48	59	56					17																	80016125		2203	4298	6501	SO:0001587	stop_gained	0				CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.1288G>T	17.37:g.80016125C>A	ENSP00000346280:p.Gly430*		A6NHV4|Q96AI3	Nonsense_Mutation	SNP	pfam_tRNA_hU_synthase	p.G430*	ENST00000354321.7	37	c.1288	CCDS32775.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.072895|6.072895	0.97256|0.97256	.|.	.|.	ENSG00000169718|ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088|ENST00000538833	.|.	.|.	.|.	4.65|4.65	2.67|2.67	0.31697|0.31697	.|.	0.052973|.	0.85682|.	D|.	0.000000|.	.|T	.|0.48714	.|0.1515	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.28713	.|0.22	.|B	.|0.25987	.|0.065	.|T	.|0.48502	.|-0.9030	.|7	0.24483|0.66056	T|D	0.36|0.02	-11.5868|-11.5868	10.7123|10.7123	0.45990|0.45990	0.0:0.8438:0.0:0.1562|0.0:0.8438:0.0:0.1562	.|.	.|296	.|Q9BTJ3	.|.	X|L	430;430;293|294	.|.	ENSP00000303515:G430X|ENSP00000445110:R294L	G|R	-|-	1|2	0|0	DUS1L|DUS1L	77609414|77609414	0.984000|0.984000	0.35163|0.35163	0.707000|0.707000	0.30419|0.30419	0.952000|0.952000	0.60782|0.60782	4.060000|4.060000	0.57477|0.57477	0.584000|0.584000	0.29591|0.29591	-0.253000|-0.253000	0.11424|0.11424	GGA|CGG	DUS1L	-	NULL	ENSG00000169718		0.627	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUS1L	HGNC	protein_coding	OTTHUMT00000442347.1	-	0	79	0	C	NM_022156		80016125	-1	tier1	-	no_errors	ENST00000306796	ensembl	human	known	74_37	nonsense	8.70	41	4	SNP	0.995	A	A	80016125	C	A	80016125	4	1	148	1	0	0	0	0	0	1	0	0	4819	661	23	2	137	2	DUS1L	17	80016125	Nonsense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	1311727	80016125	1179085	166	37821											
APCDD1	147495	genome.wustl.edu	37	chr18	10487985	10487985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacctggtccctgctgctgGctgcacttgcctgccttgtc	3	12	10	16	0	0	0	0	0	0	0	2	0	1	0	4	2	5	4	4	2	0	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr18:10487985G>A	ENST00000355285.5	+	5	1849	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T		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)		CCTGCTGCTGGCTGCACTTGC	0.552																																																	0													48	57	54					18																	10487985		2202	4300	6502	SO:0001583	missense	0			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.1495G>A	18.37:g.10487985G>A	ENSP00000347433:p.Ala499Thr			Missense_Mutation	SNP	NULL	p.A499T	ENST00000355285.5	37	c.1495	CCDS11849.1	18	.	.	.	.	.	.	.	.	.	.	G	6.386	0.439382	0.12104	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.36699	1.24	5.53	-0.806	0.10875	.	0.746135	0.12757	N	0.441642	T	0.15176	0.0366	N	0.16478	0.41	0.09310	N	0.999997	B	0.06786	0.001	B	0.06405	0.002	T	0.33214	-0.9877	10	0.02654	T	1	-4.769	5.9369	0.19171	0.3659:0.3002:0.3338:0.0	.	499	Q8J025	APCD1_HUMAN	T	499;550	ENSP00000347433:A499T	ENSP00000347433:A499T	A	+	1	0	APCDD1	10477985	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.186000	0.16978	0.134000	0.18681	-0.244000	0.11960	GCT	APCDD1	-	NULL	ENSG00000154856		0.552	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCDD1	HGNC	protein_coding	OTTHUMT00000254529.2	-	0	53	0	G	NM_153000		10487985	1	tier1	-	no_errors	ENST00000355285	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	A	A	10487985	G	A	10487985	3	1	148	1	0	0	0	0	1	0	0	0	765	1203	42	3	1513	3	APCDD1	18	10487985	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		10487985	67589263	167	37822											
KIAA1632	57724	genome.wustl.edu	37	chr18	43496130	43496130	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaactccaacacagcaacGgggcccacttcattgggctg	11	6	10	14	1	1	1	1	0	0	1	2	1	2	1	2	3	4	2	2	3	3	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr18:43496130G>T	ENST00000282041.5	-	19	3460	c.3426C>A	c.(3424-3426)ccC>ccA	p.P1142P	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1142					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						ACACAGCAACGGGGCCCACTT	0.478																																																	0													67	66	66					18																	43496130		1919	4118	6037	SO:0001819	synonymous_variant	0			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.3426C>A	18.37:g.43496130G>T			A2BDF3|Q9H8C8	Silent	SNP	NULL	p.P1142	ENST00000282041.5	37	c.3426	CCDS11926.2	18																																																																																			EPG5	-	NULL	ENSG00000152223		0.478	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1		0	32	0	G	NM_020964		43496130	-1			no_errors	ENST00000282041	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.173	T	T	43496130	G	T	43496130	2	4	148	1	0	0	0	0	0	0	0	1	8276	1103	39	2		2	KIAA1632	18	43496130	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	33008145	43496130	34581118	168	37823											
RAB27B	5874	genome.wustl.edu	37	chr18	52546673	52546673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagctttgggacactgCgggacaagagcggtaatagt	10	10	13	8	2	2	1	1	0	1	1	2	3	2	3	0	3	3	2	0	3	3	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr18:52546673C>T	ENST00000262094.5	+	3	748	c.227C>T	c.(226-228)gCg>gTg	p.A76V	RAB27B_ENST00000586594.1_3'UTR|RP11-99A1.2_ENST00000590604.1_lincRNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	76					multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|multivesicular body membrane (GO:0032585)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein domain specific binding (GO:0019904)			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TGGGACACTGCGGGACAAGAG	0.358																																																	0													178	154	162					18																	52546673		2203	4300	6503	SO:0001583	missense	0			U57093	CCDS11958.1	18q21.2	2006-12-18			ENSG00000041353	ENSG00000041353		"RAB, member RAS oncogene"	9767	protein-coding gene	gene with protein product		603869				9066979	Standard	NM_004163		Approved		uc002lfr.3	O00194	OTTHUMG00000132710	ENST00000262094.5:c.227C>T	18.37:g.52546673C>T	ENSP00000262094:p.Ala76Val		B2RAB0|Q9BZB6	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A76V	ENST00000262094.5	37	c.227	CCDS11958.1	18	.	.	.	.	.	.	.	.	.	.	C	34	5.359060	0.95854	.	.	ENSG00000041353	ENST00000262094	D	0.88818	-2.43	6.17	6.17	0.99709	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96288	0.8789	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96419	0.9310	10	0.87932	D	0	-4.7839	19.6509	0.95805	0.0:1.0:0.0:0.0	.	76	O00194	RB27B_HUMAN	V	76	ENSP00000262094:A76V	ENSP00000262094:A76V	A	+	2	0	RAB27B	50697671	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.657000	0.83745	2.941000	0.99782	0.655000	0.94253	GCG	RAB27B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000041353		0.358	RAB27B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB27B	HGNC	protein_coding	OTTHUMT00000256008.3	-	0	60	0	C	NM_004163		52546673	1	tier1	-	no_errors	ENST00000262094	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	52546673	C	T	52546673	3	4	148	1	0	0	0	0	1	0	0	0	12960	768	27	1	233	1	RAB27B	18	52546673	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	9050543	52546673	25530575	169	37824											
SERPINB10	5273	genome.wustl.edu	37	chr18	61585277	61585277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcctcaagcccaacgatGactacttacttaaaacagcc	16	8	4	13	1	1	1	1	1	0	0	2	2	2	1	3	0	6	0	3	0	7	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr18:61585277G>A	ENST00000238508.3	+	4	372	c.313G>A	c.(313-315)Gac>Aac	p.D105N		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	105					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)				GCCCAACGATGACTACTTACT	0.353																																																	0													96	89	92					18																	61585277		2203	4300	6503	SO:0001583	missense	0			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.313G>A	18.37:g.61585277G>A	ENSP00000238508:p.Asp105Asn		Q4VAX4|Q4VAX7	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.D105N	ENST00000238508.3	37	c.313	CCDS11990.1	18	.	.	.	.	.	.	.	.	.	.	G	5.384	0.256054	0.10185	.	.	ENSG00000242550	ENST00000238508	D	0.82893	-1.66	5.83	-0.938	0.10412	Serpin domain (3);	0.684781	0.15411	N	0.263742	T	0.55097	0.1899	N	0.02842	-0.48	0.09310	N	1	B	0.27791	0.189	B	0.25614	0.062	T	0.49031	-0.8981	10	0.23302	T	0.38	.	4.9649	0.14085	0.2832:0.0:0.2893:0.4275	.	105	P48595	SPB10_HUMAN	N	105	ENSP00000238508:D105N	ENSP00000238508:D105N	D	+	1	0	SERPINB10	59736257	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.187000	0.09656	-0.057000	0.13199	-0.150000	0.13652	GAC	SERPINB10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000242550		0.353	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB10	HGNC	protein_coding	OTTHUMT00000134012.3	-	0	74	0	G	NM_005024		61585277	1	tier1	-	no_errors	ENST00000238508	ensembl	human	known	74_37	missense	14.29	66	11	SNP	0.000	A	A	61585277	G	A	61585277	3	1	148	1	0	0	0	0	1	0	0	0	14142	1290	45	3	323	3	SERPINB10	18	61585277	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	9038604	61585277	16491971	170	37825											
DSEL	92126	genome.wustl.edu	37	chr18	65180052	65180052	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattatgaaagaaggcactGacagaatttattggggaatc	17	10	10	4	0	0	4	0	2	0	2	1	5	0	5	0	3	0	1	0	3	7	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr18:65180052G>T	ENST00000310045.7	-	2	3297	c.1824C>A	c.(1822-1824)gtC>gtA	p.V608V	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	598					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)				AGAAGGCACTGACAGAATTTA	0.348																																																	0													46	47	46					18																	65180052		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1824C>A	18.37:g.65180052G>T			Q17RH1|Q6P5Z3	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.V608	ENST00000310045.7	37	c.1824	CCDS11995.1	18																																																																																			DSEL	-	NULL	ENSG00000171451		0.348	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1		0	65	0	G	NM_032160		65180052	-1			no_errors	ENST00000310045	ensembl	human	known	74_37	silent	5.66	50	3	SNP	1.000	T	T	65180052	G	T	65180052	2	4	148	1	0	0	0	0	0	0	0	1	4789	1277	45	3		3	DSEL	18	65180052	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	3594775	65180052	12897196	171	37826											
KCNG2	26251	genome.wustl.edu	37	chr18	77624216	77624216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcttcgcctgcgtgtcCgtgtccttcgtggccgtcac	3	12	11	15	5	2	0	1	0	1	0	6	0	4	0	4	1	2	1	4	1	1	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr18:77624216C>T	ENST00000316249.3	+	1	549	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	183					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)		CCTGCGTGTCCGTGTCCTTCG	0.766																																																	0													17	16	16					18																	77624216		1955	3928	5883	SO:0001819	synonymous_variant	0			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.549C>T	18.37:g.77624216C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv	p.S183	ENST00000316249.3	37	c.549	CCDS12019.1	18																																																																																			KCNG2	-	prints_K_chnl	ENSG00000178342		0.766	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG2	HGNC	protein_coding	OTTHUMT00000103906.1		0	25	0	C	NM_012283		77624216	1			no_errors	ENST00000316249	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.507	T	T	77624216	C	T	77624216	2	4	148	1	0	0	0	0	0	0	0	1	8055	639	23	1		1	KCNG2	18	77624216	Silent	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	12444164	77624216	453032	172	37827											
ABCA7	10347	genome.wustl.edu	37	chr19	1043466	1043466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttttacccggaagctcatGgcccaggtgggggcagcctg	6	8	14	13	1	1	0	1	0	0	0	1	1	1	1	4	5	3	2	4	5	2	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr19:1043466G>T	ENST00000263094.6	+	9	1155	c.924G>T	c.(922-924)atG>atT	p.M308I	ABCA7_ENST00000433129.1_Missense_Mutation_p.M308I|ABCA7_ENST00000435683.2_Missense_Mutation_p.M170I	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	308					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)		GGAAGCTCATGGCCCAGGTGG	0.652																																																	0													66	76	72					19																	1043466		2203	4300	6503	SO:0001583	missense	0			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.924G>T	19.37:g.1043466G>T	ENSP00000263094:p.Met308Ile		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.M308I	ENST00000263094.6	37	c.924	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	G	7.433	0.639164	0.14386	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.84589	-1.87;-1.87	4.25	4.25	0.50352	.	.	.	.	.	T	0.81494	0.4834	L	0.39898	1.24	0.27750	N	0.944195	B;B	0.29988	0.264;0.04	B;B	0.38683	0.279;0.023	T	0.68546	-0.5380	9	0.11182	T	0.66	.	14.1326	0.65266	0.0:0.0:1.0:0.0	.	170;308	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	I	308	ENSP00000263094:M308I;ENSP00000414062:M308I	ENSP00000263094:M308I	M	+	3	0	ABCA7	994466	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	3.269000	0.51592	1.937000	0.56155	0.313000	0.20887	ATG	ABCA7	-	NULL	ENSG00000064687		0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1		0	57	0	G	NM_019112		1043466	1			no_errors	ENST00000263094	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	1043466	G	T	1043466	3	4	148	1	0	0	0	0	1	0	0	0	37	1348	47	3	954	3	ABCA7	19	1043466	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		1043466	58085517	173	37828											
MUC16	94025	genome.wustl.edu	37	chr19	9056542	9056542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctagagaatggactacCtgaacctgagatggctcgtg	10	10	12	9	1	0	3	0	2	0	2	2	6	1	4	3	2	2	1	3	2	4	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr19:9056542C>A	ENST00000397910.4	-	3	31107	c.30904G>T	c.(30904-30906)Ggt>Tgt	p.G10302C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10304	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						AATGGACTACCTGAACCTGAG	0.527																																																	0													105	106	106					19																	9056542		2074	4208	6282	SO:0001583	missense	0			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.30904G>T	19.37:g.9056542C>A	ENSP00000381008:p.Gly10302Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.G10302C	ENST00000397910.4	37	c.30904	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	6.644	0.487272	0.12641	.	.	ENSG00000181143	ENST00000397910	T	0.03663	3.85	3.31	-5.77	0.02369	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	.	.	.	D	0.55605	0.972	P	0.51385	0.668	T	0.30416	-0.9979	8	0.87932	D	0	.	3.3213	0.07052	0.4301:0.2717:0.0:0.2982	.	10302	B5ME49	.	C	10302	ENSP00000381008:G10302C	ENSP00000381008:G10302C	G	-	1	0	MUC16	8917542	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-2.977000	0.00664	-1.012000	0.03387	-0.457000	0.05445	GGT	MUC16	-	NULL	ENSG00000181143		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	50	0	C	NM_024690		9056542	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.000	A	A	9056542	C	A	9056542	3	1	148	1	0	0	0	0	1	0	0	0	10011	681	24	3	12947	3	MUC16	19	9056542	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	8013076	9056542	50072441	174	37829											
ZNF699	374879	genome.wustl.edu	37	chr19	9406531	9406531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgatatgtactgtaaggtGggaggaactaataaaggctt	13	12	12	4	0	1	1	0	1	1	0	1	3	1	3	0	4	2	3	0	4	7	6	rs371499745		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr19:9406531G>T	ENST00000591998.1	-	6	1777	c.1549C>A	c.(1549-1551)Cac>Aac	p.H517N	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Missense_Mutation_p.H517N			Q32M78	ZN699_HUMAN	zinc finger protein 699	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTGTAAGGTGGGAGGAACTA	0.438																																																	0													92	98	96					19																	9406531		2203	4296	6499	SO:0001583	missense	0			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1549C>A	19.37:g.9406531G>T	ENSP00000467723:p.His517Asn		Q8N9A1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H517N	ENST00000591998.1	37	c.1549	CCDS42495.1	19	.	.	.	.	.	.	.	.	.	.	G	0.538	-0.854844	0.02630	.	.	ENSG00000196110	ENST00000308650	T	0.13196	2.61	3.13	-2.24	0.06909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.193628	0.25759	N	0.028483	T	0.04003	0.0112	N	0.05534	-0.03	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.35176	-0.9799	10	0.13470	T	0.59	.	2.0834	0.03640	0.1118:0.1614:0.2369:0.49	.	517	Q32M78	ZN699_HUMAN	N	517	ENSP00000311596:H517N	ENSP00000311596:H517N	H	-	1	0	ZNF699	9267531	0.000000	0.05858	0.007000	0.13788	0.991000	0.79684	-3.029000	0.00638	-0.299000	0.08909	0.555000	0.69702	CAC	ZNF699	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196110		0.438	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF699	HGNC	protein_coding	OTTHUMT00000449010.1		0	77	0	G	NM_198535		9406531	-1			no_errors	ENST00000308650	ensembl	human	known	74_37	missense	7.14	65	5	SNP	0.000	T	T	9406531	G	T	9406531	3	4	148	1	0	0	0	0	1	0	0	0	18149	1348	47	3	383	3	ZNF699	19	9406531	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	349989	9406531	49722452	175	37830											
HOOK2	29911	genome.wustl.edu	37	chr19	12883647	12883647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaccagctgaagcagcttgCcgagctctgccgggtctgag	7	7	14	13	2	2	2	0	2	2	0	2	3	2	2	3	1	6	5	3	1	1	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr19:12883647C>T	ENST00000397668.3	-	5	408	c.335G>A	c.(334-336)gGc>gAc	p.G112D	HOOK2_ENST00000264827.5_Missense_Mutation_p.G112D|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	112	Required for localization to the centrosome and induction of aggresome formation.|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						AAGCAGCTTGCCGAGCTCTGC	0.602																																																	0													53	55	54					19																	12883647		1939	4148	6087	SO:0001583	missense	0			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.335G>A	19.37:g.12883647C>T	ENSP00000380785:p.Gly112Asp		O60562	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_UBA-like	p.G112D	ENST00000397668.3	37	c.335	CCDS42508.1	19	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446336	0.84101	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.20463	2.07;2.07	3.64	3.64	0.41730	.	0.073235	0.53938	D	0.000051	T	0.48314	0.1493	M	0.83118	2.625	0.50632	D	0.999888	D;D	0.71674	0.998;0.998	D;D	0.74674	0.973;0.984	T	0.58284	-0.7663	10	0.72032	D	0.01	-20.9783	14.4602	0.67442	0.0:1.0:0.0:0.0	.	112;112	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	D	112	ENSP00000380785:G112D;ENSP00000264827:G112D	ENSP00000264827:G112D	G	-	2	0	HOOK2	12744647	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.651000	0.67951	1.734000	0.51633	0.455000	0.32223	GGC	HOOK2	-	pfam_Hook-related_fam	ENSG00000095066		0.602	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	HGNC	protein_coding	OTTHUMT00000451008.1	-	0	66	0	C	NM_013312		12883647	-1	tier1	-	no_errors	ENST00000397668	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	12883647	C	T	12883647	3	4	148	1	0	0	0	0	1	0	0	0	7310	739	26	3	1900	3	HOOK2	19	12883647	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	3477116	12883647	46245336	176	37831											
CD22	933	genome.wustl.edu	37	chr19	35837104	35837104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcccccggactgcgatgacaCggtcacttattcagcattgc	8	10	9	14	3	2	1	2	1	0	0	3	3	3	2	2	2	3	1	2	2	1	3	rs200771320		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr19:35837104C>T	ENST00000085219.5	+	13	2444	c.2378C>T	c.(2377-2379)aCg>aTg	p.T793M	MIR5196_ENST00000578146.1_RNA|CD22_ENST00000419549.2_Missense_Mutation_p.T621M|CD22_ENST00000341773.6_Missense_Mutation_p.T616M|CD22_ENST00000594250.1_Missense_Mutation_p.T616M|CD22_ENST00000536635.2_Missense_Mutation_p.T705M|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000270311.6_Missense_Mutation_p.T608M	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	793					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGCGATGACACGGTCACTTAT	0.597																																					Ovarian(42;1009 1133 23674 26041)												0													117	101	107					19																	35837104		2203	4300	6503	SO:0001583	missense	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2378C>T	19.37:g.35837104C>T	ENSP00000085219:p.Thr793Met		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T793M	ENST00000085219.5	37	c.2378	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	C	9.874	1.199709	0.22121	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.56444	0.92;0.51;0.46;0.84;1.0	3.52	-1.79	0.07932	.	1.063330	0.07440	N	0.897106	T	0.51991	0.1707	M	0.65975	2.015	0.09310	N	1	P;P;P;D	0.54207	0.685;0.843;0.685;0.965	B;B;B;P	0.48627	0.036;0.289;0.036;0.584	T	0.48958	-0.8988	10	0.52906	T	0.07	.	3.8351	0.08891	0.0:0.3292:0.4014:0.2694	.	621;705;793;616	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	M	793;705;616;608;621	ENSP00000085219:T793M;ENSP00000442279:T705M;ENSP00000339349:T616M;ENSP00000270311:T608M;ENSP00000403822:T621M	ENSP00000085219:T793M	T	+	2	0	CD22	40528944	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.367000	0.07553	-0.018000	0.14079	0.313000	0.20887	ACG	CD22	-	NULL	ENSG00000012124		0.597	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1		0	31	0	C	NM_001771		35837104	1			no_errors	ENST00000085219	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.000	T	T	35837104	C	T	35837104	3	4	148	1	0	0	0	0	1	0	0	0	2992	536	19	1	2424	1	CD22	19	35837104	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	22953457	35837104	23291879	177	37832											
CIC	23152	genome.wustl.edu	37	chr19	42794952	42794952	+	Frame_Shift_Del	DEL	C	C	-																															tggtcaccaatgtggtgcggCctgtcagcagcactcctgtg																										TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr19:42794952delC	ENST00000575354.2	+	10	2072	c.2032delC	c.(2032-2034)cctfs	p.P678fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.P678fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.P1587fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	678	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGTGGTGCGGCCTGTCAGCAG	0.662			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													15	13	14					19																	42794952		2197	4284	6481	SO:0001589	frameshift_variant	0			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.2032delC	19.37:g.42794952delC	ENSP00000458663:p.Pro678fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P678fs	ENST00000575354.2	37	c.2032	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.662	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2		0	57	0	C			42794952	1	tier1		no_errors	ENST00000575354	ensembl	human	known	74_37	frame_shift_del	43.18	25	19	DEL	1.000	-	-	42794952	C	-	42794952	7	5	148	1	0	1	0	1	0	0	0	0	3431	739	26	0	2070	0	CIC	19	42794952	Frame_Shift_Del	DEL	C	TCGA-R6-A8W5-01B-11D-A37C-09	6957848	42794952	16334031	178	37833											
RCN3	57333	genome.wustl.edu	37	chr19	50046369	50046369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gaccctccctccaggatgggCggctgagcaaagcggaaatc	10	5	13	13	2	0	1	0	1	0	0	3	4	2	3	3	4	2	2	3	4	2	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr19:50046369C>T	ENST00000270645.3	+	7	1333	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	296	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.					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)		CCAGGATGGGCGGCTGAGCAA	0.597																																																	0													65	53	57					19																	50046369		2203	4300	6503	SO:0001583	missense	0			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.886C>T	19.37:g.50046369C>T	ENSP00000270645:p.Arg296Trp		Q9HBZ8	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R296W	ENST00000270645.3	37	c.886	CCDS12771.1	19	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107724	0.37242	.	.	ENSG00000142552	ENST00000270645	T	0.79454	-1.27	4.52	3.47	0.39725	EF-hand-like domain (1);	0.073344	0.53938	D	0.000057	T	0.82181	0.4981	M	0.66939	2.045	0.09310	N	1	D	0.69078	0.997	P	0.60473	0.875	T	0.72603	-0.4243	10	0.66056	D	0.02	-17.5681	7.3801	0.26851	0.3379:0.498:0.1641:0.0	.	296	Q96D15	RCN3_HUMAN	W	296	ENSP00000270645:R296W	ENSP00000270645:R296W	R	+	1	2	RCN3	54738181	0.305000	0.24481	0.376000	0.26042	0.253000	0.25986	2.510000	0.45468	1.106000	0.41623	0.555000	0.69702	CGG	RCN3	-	smart_EF_hand_dom	ENSG00000142552		0.597	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN3	HGNC	protein_coding	OTTHUMT00000465261.1	-	0	84	0	C	NM_020650		50046369	1	tier1	-	no_errors	ENST00000270645	ensembl	human	known	74_37	missense	30.91	38	17	SNP	0.006	T	T	50046369	C	T	50046369	3	4	148	1	0	0	0	0	1	0	0	0	13226	759	27	1	908	1	RCN3	19	50046369	Missense_Mutation	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	7251417	50046369	9082614	179	37834											
CEACAM18	729767	genome.wustl.edu	37	chr19	51983670	51983670	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggatcaagggatatcggactGtcgtggccctggataaggtc	9	9	15	8	2	1	0	1	0	0	0	4	4	1	4	1	6	0	0	1	6	3	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr19:51983670G>T	ENST00000396477.4	+	2	157	c.136G>T	c.(136-138)Gtc>Ttc	p.V46F	CEACAM18_ENST00000451626.1_Missense_Mutation_p.V107F	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	46										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATATCGGACTGTCGTGGCCCT	0.547																																																	0													53	51	52					19																	51983670		1998	4152	6150	SO:0001583	missense	0					19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.136G>T	19.37:g.51983670G>T	ENSP00000379738:p.Val46Phe		C9JN24	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V107F	ENST00000396477.4	37	c.319		19	.	.	.	.	.	.	.	.	.	.	.	4.237	0.043000	0.08196	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.05855	3.38	2.79	-5.59	0.02505	.	.	.	.	.	T	0.03136	0.0092	N	0.11427	0.14	0.09310	N	1	B	0.34181	0.44	B	0.36335	0.222	T	0.30880	-0.9963	9	0.59425	D	0.04	-0.0336	4.3077	0.10955	0.1311:0.3234:0.4365:0.109	.	107	A8MTB9	CEA18_HUMAN	F	107;46;46	ENSP00000402203:V107F	ENSP00000379738:V46F	V	+	1	0	CEACAM18	56675482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.042000	0.00084	-3.681000	0.00122	-2.086000	0.00376	GTC	CEACAM18	-	smart_Ig_sub	ENSG00000213822		0.547	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2		0	67	0	G			51983670	1			no_errors	ENST00000451626	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.000	T	T	51983670	G	T	51983670	3	4	148	1	0	0	0	0	1	0	0	0	3196	1377	48	3	329	3	CEACAM18	19	51983670	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	1937301	51983670	7145313	180	37835											
ZNF544	27300	genome.wustl.edu	37	chr19	58772267	58772267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaattctgaaaaagatcgaGctagggaagaactatcccac	16	8	9	8	1	1	4	0	2	1	2	3	6	2	5	1	1	2	1	1	1	7	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr19:58772267G>C	ENST00000596652.1	+	6	529	c.295G>C	c.(295-297)Gct>Cct	p.A99P	ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.A71P|ZNF544_ENST00000594384.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.A71P|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.A71P|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000269829.4_Missense_Mutation_p.A99P|ZNF544_ENST00000596825.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		AAAAGATCGAGCTAGGGAAGA	0.468																																																	0													61	59	59					19																	58772267		2203	4300	6503	SO:0001583	missense	0			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.295G>C	19.37:g.58772267G>C	ENSP00000469635:p.Ala99Pro		A8K6J1|Q9UEX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A99P	ENST00000596652.1	37	c.295	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560300	0.27827	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.08008	3.25;3.14	2.95	-4.95	0.03048	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B;B;B	0.24963	0.061;0.061;0.115	B;B;B	0.20767	0.017;0.017;0.031	T	0.42832	-0.9428	9	0.32370	T	0.25	.	0.8974	0.01266	0.2424:0.3335:0.2542:0.1699	.	71;71;99	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	P	99;71	ENSP00000269829:A99P;ENSP00000394341:A71P	ENSP00000269829:A99P	A	+	1	0	ZNF544	63464079	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.355000	0.20163	-0.588000	0.05882	-0.793000	0.03317	GCT	ZNF544	-	NULL	ENSG00000198131		0.468	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	-	0	64	0	G	NM_014480		58772267	1	tier1	-	no_errors	ENST00000269829	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.000	C	C	58772267	G	C	58772267	3	2	148	1	0	0	0	0	1	0	0	0	18025	971	34	5	309	5	ZNF544	19	58772267	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	6788597	58772267	356716	181	37836											
SNTA1	6640	genome.wustl.edu	37	chr20	32005706	32005706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtagagttcttgaaatacgGtgagacgtccttcatatact	12	13	9	7	2	2	3	1	2	1	2	3	4	3	3	1	1	2	2	1	1	5	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr20:32005706G>T	ENST00000217381.2	-	3	791	c.520C>A	c.(520-522)Ccg>Acg	p.P174T		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	174	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TTGAAATACGGTGAGACGTCC	0.542																																																	0													86	85	85					20																	32005706		2203	4300	6503	SO:0001583	missense	0			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.520C>A	20.37:g.32005706G>T	ENSP00000217381:p.Pro174Thr		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.P174T	ENST00000217381.2	37	c.520	CCDS13220.1	20	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216343	0.79352	.	.	ENSG00000101400	ENST00000217381	T	0.59772	0.24	5.71	4.76	0.60689	PDZ/DHR/GLGF (1);Pleckstrin homology domain (2);	0.065382	0.64402	D	0.000008	T	0.66906	0.2837	L	0.57130	1.785	0.53005	D	0.999966	D;P	0.54207	0.965;0.613	P;B	0.54965	0.765;0.248	T	0.70828	-0.4766	10	0.72032	D	0.01	-11.7429	14.4074	0.67090	0.0715:0.0:0.9285:0.0	.	174;174	B4DX40;Q13424	.;SNTA1_HUMAN	T	174	ENSP00000217381:P174T	ENSP00000217381:P174T	P	-	1	0	SNTA1	31469367	1.000000	0.71417	0.992000	0.48379	0.959000	0.62525	3.753000	0.55180	1.421000	0.47157	-0.140000	0.14226	CCG	SNTA1	-	superfamily_PDZ,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000101400		0.542	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTA1	HGNC	protein_coding	OTTHUMT00000078704.2		0	39	0	G	NM_003098		32005706	-1			no_errors	ENST00000217381	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	32005706	G	T	32005706	3	4	148	1	0	0	0	0	1	0	0	0	14916	1261	44	3	1021	3	SNTA1	20	32005706	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		32005706	31019814	182	37837											
WFDC9	259240	genome.wustl.edu	37	chr20	44238766	44238766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttcccagcacaggcaGaagcatcacaactccagaga	15	4	9	13	0	1	2	1	0	0	2	3	4	3	2	2	1	4	4	2	1	3	1			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr20:44238766G>T	ENST00000326000.1	-	3	272	c.55C>A	c.(55-57)Ctg>Atg	p.L19M		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	19						extracellular region (GO:0005576)				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				AGCACAGGCAGAAGCATCACA	0.512																																																	0													129	112	118					20																	44238766		2203	4300	6503	SO:0001583	missense	0			AL031671	CCDS13362.1	20q13.12	2013-01-21			ENSG00000180205	ENSG00000180205		"WAP four-disulfide core domain containing"	20380	protein-coding gene	gene with protein product						12206714	Standard	NM_147198		Approved	WAP9, dJ688G8.2	uc002xoy.3	Q8NEX5	OTTHUMG00000046332	ENST00000326000.1:c.55C>A	20.37:g.44238766G>T	ENSP00000320532:p.Leu19Met		Q3MIX6|Q5TGZ8	Missense_Mutation	SNP	NULL	p.L19M	ENST00000326000.1	37	c.55	CCDS13362.1	20	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973490	0.53720	.	.	ENSG00000180205	ENST00000326000	T	0.37411	1.2	3.99	3.99	0.46301	.	0.306751	0.18071	N	0.152603	T	0.55641	0.1933	.	.	.	0.09310	N	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.42120	-0.9470	9	0.56958	D	0.05	.	11.9472	0.52934	0.0:0.0:1.0:0.0	.	19	Q8NEX5	WFDC9_HUMAN	M	19	ENSP00000320532:L19M	ENSP00000320532:L19M	L	-	1	2	WFDC9	43672180	0.003000	0.15002	0.186000	0.23195	0.057000	0.15508	0.952000	0.29149	2.526000	0.85167	0.650000	0.86243	CTG	WFDC9	-	NULL	ENSG00000180205		0.512	WFDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC9	HGNC	protein_coding	OTTHUMT00000106945.1	-	0	49	0	G			44238766	-1	tier1	-	no_errors	ENST00000326000	ensembl	human	known	74_37	missense	15.04	96	17	SNP	0.231	T	T	44238766	G	T	44238766	3	4	148	1	0	0	0	0	1	0	0	0	17406	933	33	3	226	3	WFDC9	20	44238766	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	12233060	44238766	18786754	183	37838											
NFATC2	4773	genome.wustl.edu	37	chr20	50049181	50049181	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaggcaggagggggactcGgccaccatcgggtgctgggg	7	4	20	10	3	0	0	0	0	0	0	2	3	0	2	2	8	1	2	2	8	0	0			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr20:50049181G>A	ENST00000396009.3	-	9	2364	c.2145C>T	c.(2143-2145)gcC>gcT	p.A715A	NFATC2_ENST00000609507.1_Silent_p.A496A|NFATC2_ENST00000609943.1_Silent_p.A695A|NFATC2_ENST00000610033.1_Silent_p.A496A|NFATC2_ENST00000371564.3_Silent_p.A715A|NFATC2_ENST00000414705.1_Silent_p.A695A	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	715					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGGGGGACTCGGCCACCATCG	0.667																																																	0													21	25	24					20																	50049181		2198	4289	6487	SO:0001819	synonymous_variant	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2145C>T	20.37:g.50049181G>A			B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.A715	ENST00000396009.3	37	c.2145	CCDS13437.1	20																																																																																			NFATC2	-	NULL	ENSG00000101096		0.667	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	-	0	96	0	G	NM_012340		50049181	-1	tier1	-	no_errors	ENST00000396009	ensembl	human	known	74_37	silent	5.43	87	5	SNP	0.965	A	A	50049181	G	A	50049181	2	1	148	1	0	0	0	0	0	0	0	1	10401	1103	39	1		1	NFATC2	20	50049181	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	5810415	50049181	12976339	184	37839											
PRIC285	85441	genome.wustl.edu	37	chr20	62191383	62191383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccagctcttggtgggccGctggtccaggtcgctcttgg	3	10	16	12	2	2	0	0	0	2	0	4	1	3	0	3	5	2	3	3	5	0	2	rs148612902	byFrequency	TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr20:62191383G>A	ENST00000467148.1	-	18	7792	c.7723C>T	c.(7723-7725)Cgg>Tgg	p.R2575W	HELZ2_ENST00000427522.2_Missense_Mutation_p.R2006W	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2575	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)	p.R2575W(1)									TTGGTGGGCCGCTGGTCCAGG	0.652													G|||	2	0.000399361	0	0	5008	,	,		13835	0.001		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	breast(1)						G	TRP/ARG,TRP/ARG	0,4398		0,0,2199	54	45	48		7723,6016	2.9	1	20	dbSNP_134	48	5,8593	4.3+/-15.6	0,5,4294	yes	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	101,101	0,5,6493	AA,AG,GG		0.0582,0.0,0.0385	probably-damaging,probably-damaging	2575/2650,2006/2081	62191383	5,12991	2199	4299	6498	SO:0001583	missense	0			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.7723C>T	20.37:g.62191383G>A	ENSP00000417401:p.Arg2575Trp		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R2575W	ENST00000467148.1	37	c.7723	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350878	0.61183	0.0	5.82E-4	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.80738	-1.41;-1.3	3.94	2.88	0.33553	.	0.460591	0.20765	N	0.086081	D	0.86260	0.5890	M	0.72894	2.215	0.28827	N	0.897344	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.982	T	0.78534	-0.2167	10	0.87932	D	0	-32.889	8.156	0.31169	0.0:0.0:0.5369:0.4631	.	2575;2006	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	W	2006;2575	ENSP00000393257:R2006W;ENSP00000417401:R2575W	ENSP00000393257:R2006W	R	-	1	2	RP4-697K14.7	61661827	0.000000	0.05858	0.997000	0.53966	0.839000	0.47603	0.153000	0.16323	1.763000	0.52060	0.561000	0.74099	CGG	HELZ2	-	superfamily_P-loop_NTPase	ENSG00000130589		0.652	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1		0	54	0	G	NM_001037335		62191383	-1			no_errors	ENST00000467148	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.745	A	A	62191383	G	A	62191383	3	1	148	1	0	0	0	0	1	0	0	0	12527	1086	38	1	234	1	PRIC285	20	62191383	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	12142202	62191383	834137	185	37840											
OPRL1	4987	genome.wustl.edu	37	chr20	62729951	62729951	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggccattctgcgcttctgCacggccctgggctacgtcaa	5	10	12	14	3	3	0	1	0	2	0	3	0	3	0	2	3	3	3	2	3	2	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr20:62729951C>T	ENST00000349451.3	+	6	1324	c.912C>T	c.(910-912)tgC>tgT	p.C304C	OPRL1_ENST00000336866.2_Silent_p.C304C|OPRL1_ENST00000355631.4_Silent_p.C304C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	304					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCGCTTCTGCACGGCCCTGG	0.622																																																	0													93	78	83					20																	62729951		2203	4297	6500	SO:0001819	synonymous_variant	0				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.912C>T	20.37:g.62729951C>T			Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.C304	ENST00000349451.3	37	c.912	CCDS13556.1	20																																																																																			OPRL1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opioid_rcpt	ENSG00000125510		0.622	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	HGNC	protein_coding	OTTHUMT00000080295.1		0	49	0	C	NM_182647		62729951	1			no_errors	ENST00000336866	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T	T	62729951	C	T	62729951	2	4	148	1	0	0	0	0	0	0	0	1	10925	718	25	3		3	OPRL1	20	62729951	Silent	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	538568	62729951	295569	186	37841											
COL18A1	80781	genome.wustl.edu	37	chr21	46895449	46895449	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcttctcagggaggagacGgtgagtagccggacggggcc	8	5	19	9	3	1	2	1	1	1	1	2	6	1	4	2	6	2	2	2	6	1	2	rs527870177		TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr21:46895449G>A	ENST00000359759.4	+	4	2064	c.2043G>A	c.(2041-2043)acG>acA	p.T681T	COL18A1_ENST00000400337.2_Splice_Site_p.T266T|COL18A1_ENST00000355480.5_Splice_Site_p.T446T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	681	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)		GGGAGGAGACGGTGAGTAGCC	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		14427	0		0	False		,,,				2504	0																0													12	15	14					21																	46895449		1867	4092	5959	SO:0001630	splice_region_variant	0				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.2043+1G>A	21.37:g.46895449G>A			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.T681	ENST00000359759.4	37	c.2043		21																																																																																			COL18A1	-	NULL	ENSG00000182871		0.667	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	-	0	117	0	G		Silent	46895449	1	tier1	-	no_errors	ENST00000359759	ensembl	human	known	74_37	silent	38.75	49	31	SNP	0.420	A	A	46895449	G	A	46895449	5	1	148	1	0	0	0	0	0	0	1	0	3682	1130	39	1	2171	1	COL18A1	21	46895449	Splice_Site	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		46895449	1234446	187	37842											
SLC25A18	83733	genome.wustl.edu	37	chr22	18072879	18072879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaactctggattcaggaGggaccatctgccttcatgaa	12	9	11	9	0	4	1	2	1	2	0	4	5	4	5	2	4	2	0	2	4	2	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr22:18072879G>A	ENST00000327451.6	+	11	1363	c.825G>A	c.(823-825)gaG>gaA	p.E275E	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Silent_p.E275E	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	275						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		GGATTCAGGAGGGACCATCTG	0.552																																					Colon(118;1560 1625 18964 29606 50093)												0													85	81	82					22																	18072879		2203	4300	6503	SO:0001819	synonymous_variant	0			AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"Solute carriers"	10988	protein-coding gene	gene with protein product		609303	"solute carrier family 25 (mitochondrial carrier), member 18"			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.825G>A	22.37:g.18072879G>A				Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E275	ENST00000327451.6	37	c.825	CCDS13744.1	22																																																																																			SLC25A18	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000182902		0.552	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A18	HGNC	protein_coding	OTTHUMT00000316214.3	-	0	58	0	G	NM_031481		18072879	1	tier1	-	no_errors	ENST00000327451	ensembl	human	known	74_37	silent	26.67	22	8	SNP	1.000	A	A	18072879	G	A	18072879	2	1	148	1	0	0	0	0	0	0	0	1	14525	991	35	3		3	SLC25A18	22	18072879	Silent	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		18072879	33231687	188	37843											
MN1	4330	genome.wustl.edu	37	chr22	28195603	28195605	+	In_Frame_Del	DEL	TGC	TGC	-																															acctctcaaagaacacaccaTgctgctgctgctgctgctgg																										TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chr22:28195603_28195605delTGC	ENST00000302326.4	-	1	1881_1883	c.927_929delGCA	c.(925-930)cagcat>cat	p.Q309del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	309					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GAACACACCAtgctgctgctgct	0.64			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0										53,2821		10,33,1394						2.8	0.9			2	95,5897		15,65,2916	no	coding	MN1	NM_002430.2		25,98,4310	A1A1,A1R,RR		1.5854,1.8441,1.6693				148,8718				SO:0001651	inframe_deletion	0			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.927_929delGCA	22.37:g.28195612_28195614delTGC	ENSP00000304956:p.Gln309del		A9Z1V9	In_Frame_Del	DEL	NULL	p.Q309in_frame_del	ENST00000302326.4	37	c.929_927	CCDS42998.1	22																																																																																			MN1	-	NULL	ENSG00000169184		0.64	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1		0	44	0	TGC	NM_002430		28195605	-1	tier1		no_errors	ENST00000302326	ensembl	human	known	74_37	in_frame_del	11.54	23	3	DEL	1.000:1.000:1.000	-	-	28195605	TGC	-	28195603	7	5	148	1	0	1	0	1	0	0	0	0	9711	1464	51	0	3041	0	MN1	22	28195603	In_Frame_Del	DEL	TGC	TCGA-R6-A8W5-01B-11D-A37C-09	10122724	28195603	23108963	189	37844											
ARHGEF9	23229	genome.wustl.edu	37	chrX	62857924	62857924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtatcattttttgaaggggGttaacctgctgaagttttgc	8	16	12	5	0	1	2	1	2	0	0	1	2	1	2	1	3	3	4	1	3	4	7			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chrX:62857924G>T	ENST00000253401.6	-	10	2335	c.1535C>A	c.(1534-1536)aCc>aAc	p.T512N	ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.T459N|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.T410N|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.T491N|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.T239N	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	512					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TTTGAAGGGGGTTAACCTGCT	0.438																																																	0													65	58	60					X																	62857924		2203	4300	6503	SO:0001583	missense	0			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1535C>A	X.37:g.62857924G>T	ENSP00000253401:p.Thr512Asn		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.T512N	ENST00000253401.6	37	c.1535	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255220	0.80135	.	.	ENSG00000131089	ENST00000253401;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;T	0.75050	-0.77;-0.9;-0.63;-0.4;-0.85	5.57	5.57	0.84162	.	0.301527	0.36778	N	0.002403	T	0.80597	0.4653	L	0.49126	1.545	0.58432	D	0.999997	D;P;P	0.53619	0.961;0.932;0.932	P;P;P	0.56398	0.797;0.557;0.635	T	0.82426	-0.0463	10	0.72032	D	0.01	.	17.0261	0.86447	0.0:0.0:1.0:0.0	.	459;512;512	B4DHC7;O43307;A8K1S8	.;ARHG9_HUMAN;.	N	512;459;410;239;491	ENSP00000253401:T512N;ENSP00000399994:T459N;ENSP00000364004:T410N;ENSP00000404478:T239N;ENSP00000364006:T491N	ENSP00000253401:T512N	T	-	2	0	ARHGEF9	62774649	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.197000	0.94985	2.334000	0.79466	0.523000	0.50628	ACC	ARHGEF9	-	NULL	ENSG00000131089		0.438	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1		0	67	0	G			62857924	-1			no_errors	ENST00000253401	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	62857924	G	T	62857924	3	4	148	1	0	0	0	0	1	0	0	0	912	1261	44	3	19	3	ARHGEF9	23	62857924	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09		62857924	92412636	190	37845											
TGIF2LX	90316	genome.wustl.edu	37	chrX	89177239	89177239	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaccagagcacaagaagaAgcgcaagggaaacttgccag	16	4	11	10	1	0	3	0	0	0	3	0	4	0	4	2	1	5	2	2	1	6	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chrX:89177239A>C	ENST00000561129.2	+	1	285	c.155A>C	c.(154-156)aAg>aCg	p.K52T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.K52T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	52					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CACAAGAAGAAGCGCAAGGGA	0.512																																																	0													27	28	27					X																	89177239		2201	4278	6479	SO:0001583	missense	0			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.155A>C	X.37:g.89177239A>C	ENSP00000453704:p.Lys52Thr		Q5JRM9|Q8TD48	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.K52T	ENST00000561129.2	37	c.155	CCDS14459.1	X	.	.	.	.	.	.	.	.	.	.	A	11.85	1.763126	0.31228	.	.	ENSG00000153779	ENST00000283891	D	0.86097	-2.07	2.34	-0.415	0.12355	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.533374	0.14108	N	0.340886	D	0.86871	0.6037	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	D	0.64144	0.922	T	0.75320	-0.3359	9	.	.	.	0.3189	2.6454	0.04983	0.6158:0.0:0.1539:0.2303	.	52	Q8IUE1	TF2LX_HUMAN	T	52	ENSP00000355119:K52T	.	K	+	2	0	TGIF2LX	89063895	0.565000	0.26610	0.000000	0.03702	0.003000	0.03518	0.929000	0.28844	-0.167000	0.10871	-0.438000	0.05819	AAG	TGIF2LX	-	pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000153779		0.512	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	-	0	41	0	A	NM_138960		89177239	1	tier1	-	no_errors	ENST00000283891	ensembl	human	known	74_37	missense	62.96	10	17	SNP	0.001	C	C	89177239	A	C	89177239	3	2	148	1	0	0	0	0	1	0	0	0	15874	72	3	4	157	4	TGIF2LX	23	89177239	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	26319315	89177239	66093321	191	37846											
ESX1	80712	genome.wustl.edu	37	chrX	103499076	103499076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccggcttggtcaggggcgGctcctcctgctgttgctccg	1	11	14	15	3	1	0	1	0	0	0	5	0	5	0	4	5	2	5	4	5	0	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chrX:103499076G>A	ENST00000372588.4	-	2	348	c.265C>T	c.(265-267)Ccg>Tcg	p.P89S		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	89					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GTCAGGGGCGGCTCCTCCTGC	0.682																																					Pancreas(200;1705 2227 25194 28471 45274)												0													55	64	61					X																	103499076		2170	4215	6385	SO:0001583	missense	0			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.265C>T	X.37:g.103499076G>A	ENSP00000361669:p.Pro89Ser		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU	p.P89S	ENST00000372588.4	37	c.265	CCDS14516.1	X	.	.	.	.	.	.	.	.	.	.	g	9.127	1.010508	0.19277	.	.	ENSG00000123576	ENST00000372588	D	0.92199	-2.99	0.801	-0.312	0.12758	.	.	.	.	.	D	0.88043	0.6331	N	0.24115	0.695	0.19300	N	0.999972	D	0.57571	0.98	P	0.59424	0.857	T	0.78257	-0.2274	9	0.08599	T	0.76	.	6.0732	0.19901	0.0:0.3214:0.6786:0.0	.	89	Q8N693	ESX1_HUMAN	S	89	ENSP00000361669:P89S	ENSP00000361669:P89S	P	-	1	0	ESX1	103385732	0.031000	0.19500	0.004000	0.12327	0.018000	0.09664	-0.840000	0.04363	-0.183000	0.10585	0.411000	0.27672	CCG	ESX1	-	NULL	ENSG00000123576		0.682	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	HGNC	protein_coding	OTTHUMT00000057763.2		0	28	0	G	NM_153448		103499076	-1			no_errors	ENST00000372588	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.439	A	A	103499076	G	A	103499076	3	1	148	1	0	0	0	0	1	0	0	0	5279	1203	42	3	967	3	ESX1	23	103499076	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	14321837	103499076	51771484	192	37847											
MUM1L1	139221	genome.wustl.edu	37	chrX	105450129	105450129	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcatgtgttaaagatgaaaAgtttgctccacctttgtcac	11	14	8	8	0	1	2	1	1	0	1	2	2	2	2	2	0	2	4	2	0	4	3			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chrX:105450129A>C	ENST00000357175.2	+	4	1353	c.704A>C	c.(703-705)aAg>aCg	p.K235T	MUM1L1_ENST00000337685.2_Missense_Mutation_p.K235T|MUM1L1_ENST00000372552.1_Missense_Mutation_p.K235T	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	235						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAAGATGAAAAGTTTGCTCCA	0.403																																																	0													95	82	86					X																	105450129		1935	4130	6065	SO:0001583	missense	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.704A>C	X.37:g.105450129A>C	ENSP00000349699:p.Lys235Thr		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.K235T	ENST00000357175.2	37	c.704	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	A	8.105	0.777470	0.16120	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.23950	1.88;1.88;1.88	5.45	1.85	0.25348	.	0.327543	0.21899	N	0.067461	T	0.31606	0.0802	L	0.60455	1.87	0.09310	N	1	D	0.61697	0.99	P	0.56865	0.808	T	0.14090	-1.0485	10	0.16896	T	0.51	-12.8489	5.9476	0.19227	0.6884:0.0:0.3116:0.0	.	235	Q5H9M0	MUML1_HUMAN	T	235	ENSP00000349699:K235T;ENSP00000338641:K235T;ENSP00000361632:K235T	ENSP00000338641:K235T	K	+	2	0	MUM1L1	105336785	0.915000	0.31059	0.000000	0.03702	0.293000	0.27360	1.806000	0.38892	0.388000	0.25054	0.486000	0.48141	AAG	MUM1L1	-	NULL	ENSG00000157502		0.403	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	-	0	23	0	A	NM_152423		105450129	1	tier1	-	no_errors	ENST00000337685	ensembl	human	known	74_37	missense	52.17	11	12	SNP	0.000	C	C	105450129	A	C	105450129	3	2	148	1	0	0	0	0	1	0	0	0	10024	72	3	4	706	4	MUM1L1	23	105450129	Missense_Mutation	SNP	A	TCGA-R6-A8W5-01B-11D-A37C-09	1951053	105450129	49820431	193	37848											
PAK3	5063	genome.wustl.edu	37	chrX	110389749	110389749	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttatttacgtccattacagCcagatctctatggctcacag	10	14	6	11	1	2	1	1	0	1	1	4	1	3	1	2	1	3	1	2	1	4	6			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chrX:110389749C>T	ENST00000372010.1	+	7	719	c.277C>T	c.(277-279)Cca>Tca	p.P93S	PAK3_ENST00000372007.5_Intron|PAK3_ENST00000360648.4_Splice_Site_p.P114S|PAK3_ENST00000446737.1_Intron|PAK3_ENST00000262836.4_Splice_Site_p.P93S|PAK3_ENST00000518291.1_Splice_Site_p.P114S|PAK3_ENST00000425146.1_Intron|PAK3_ENST00000417227.1_Intron|PAK3_ENST00000519681.1_Intron			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	93	Autoregulatory region. {ECO:0000250}.|GTPase-binding. {ECO:0000250}.|Linker.				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						TCCATTACAGCCAGATCTCTA	0.463										TSP Lung(19;0.15)																																							0													32	26	28					X																	110389749		1564	3564	5128	SO:0001630	splice_region_variant	0			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.277-1C>T	X.37:g.110389749C>T			A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.P114S	ENST00000372010.1	37	c.340	CCDS48153.1	X	.	.	.	.	.	.	.	.	.	.	C	2.984	-0.209606	0.06140	.	.	ENSG00000077264	ENST00000372010;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000262836	T;T;T;T	0.70399	-0.47;-0.48;-0.48;-0.47	5.35	5.35	0.76521	PAK-box/P21-Rho-binding (2);	0.239719	0.27155	N	0.020661	T	0.70228	0.3200	N	0.08118	0	0.41142	D	0.985962	D;D	0.59357	0.981;0.985	D;D	0.71414	0.954;0.973	T	0.71490	-0.4577	9	.	.	.	.	18.7283	0.91724	0.0:1.0:0.0:0.0	.	114;93	O75914-3;O75914	.;PAK3_HUMAN	S	93;114;114;114;93	ENSP00000361080:P93S;ENSP00000428921:P114S;ENSP00000353864:P114S;ENSP00000262836:P93S	.	P	+	1	0	PAK3	110276405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.876000	0.63079	2.562000	0.86427	0.600000	0.82982	CCA	PAK3	-	NULL	ENSG00000077264		0.463	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	HGNC	protein_coding	OTTHUMT00000057918.1		0	13	0	C	NM_002578	Missense_Mutation	110389749	1			no_errors	ENST00000360648	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	110389749	C	T	110389749	5	4	148	1	0	0	0	0	0	0	1	0	11441	753	26	3	354	3	PAK3	23	110389749	Splice_Site	SNP	C	TCGA-R6-A8W5-01B-11D-A37C-09	4939620	110389749	44880811	194	37849											
SLITRK4	139065	genome.wustl.edu	37	chrX	142716871	142716871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatagtttgtggaatgaaaGcttctgtgctcagtccatct	9	15	9	8	0	3	1	1	1	2	0	4	2	4	2	1	1	2	3	1	1	4	4			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chrX:142716871G>T	ENST00000381779.4	-	2	2279	c.2054C>A	c.(2053-2055)gCt>gAt	p.A685D	SLITRK4_ENST00000356928.1_Missense_Mutation_p.A685D|SLITRK4_ENST00000338017.4_Missense_Mutation_p.A685D	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)					TGGAATGAAAGCTTCTGTGCT	0.463																																																	0													120	120	120					X																	142716871		2203	4300	6503	SO:0001583	missense	0			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.2054C>A	X.37:g.142716871G>T	ENSP00000371198:p.Ala685Asp		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A685D	ENST00000381779.4	37	c.2054	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335391	0.24253	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.50813	0.73;0.73;0.73	5.36	5.36	0.76844	.	0.149918	0.44688	U	0.000439	T	0.24509	0.0594	N	0.02539	-0.55	0.52501	D	0.999952	B	0.02656	0.0	B	0.06405	0.002	T	0.11203	-1.0597	10	0.18276	T	0.48	-5.633	16.5642	0.84574	0.0:0.0:1.0:0.0	.	685	Q8IW52	SLIK4_HUMAN	D	685	ENSP00000371198:A685D;ENSP00000349400:A685D;ENSP00000336627:A685D	ENSP00000336627:A685D	A	-	2	0	SLITRK4	142544537	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	6.379000	0.73154	2.224000	0.72417	0.513000	0.50165	GCT	SLITRK4	-	NULL	ENSG00000179542		0.463	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	-	0	25	0	G	NM_173078		142716871	-1	tier1	-	no_errors	ENST00000338017	ensembl	human	known	74_37	missense	32.43	25	12	SNP	0.999	T	T	142716871	G	T	142716871	3	4	148	1	0	0	0	0	1	0	0	0	14790	971	34	3	463	3	SLITRK4	23	142716871	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	32327122	142716871	12553689	195	37850											
SLITRK2	84631	genome.wustl.edu	37	chrX	144905900	144905900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgaaagggagtgccgagcGttcccaggaataccaacaac	13	4	12	12	3	0	0	0	0	0	0	1	4	1	2	4	2	5	1	4	2	5	2			TCGA-R6-A8W5-01B-11D-A37C-09	TCGA-R6-A8W5-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c89f2492-fb5e-4695-8b16-0d83398c99ed	bb7f548e-c22d-4847-ba3e-bd88958ff2cb	g.chrX:144905900G>A	ENST00000370490.1	+	1	6212	c.1957G>A	c.(1957-1959)Gtt>Att	p.V653I	SLITRK2_ENST00000428560.2_Missense_Mutation_p.V653I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V653I|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V653I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V653I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	653					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)					AGTGCCGAGCGTTCCCAGGAA	0.433																																																	0													100	87	91					X																	144905900		2203	4300	6503	SO:0001583	missense	0			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.1957G>A	X.37:g.144905900G>A	ENSP00000359521:p.Val653Ile		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V653I	ENST00000370490.1	37	c.1957	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263820	0.39995	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.51071	0.76;0.72;0.72;0.72;0.72;0.72	5.91	5.91	0.95273	.	0.205916	0.40222	N	0.001158	T	0.38639	0.1048	N	0.25647	0.755	0.35724	D	0.817387	B	0.02656	0.0	B	0.04013	0.001	T	0.40346	-0.9568	10	0.51188	T	0.08	-1.5871	16.462	0.84059	0.0:0.0:1.0:0.0	.	653	Q9H156	SLIK2_HUMAN	I	653	ENSP00000334374:V653I;ENSP00000411681:V653I;ENSP00000359521:V653I;ENSP00000397015:V653I;ENSP00000407347:V653I;ENSP00000412010:V653I	ENSP00000334374:V653I	V	+	1	0	SLITRK2	144713592	1.000000	0.71417	0.983000	0.44433	0.954000	0.61252	3.500000	0.53318	2.493000	0.84123	0.600000	0.82982	GTT	SLITRK2	-	NULL	ENSG00000185985		0.433	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	-	0	29	0	G	NM_032539		144905900	1	tier1	-	no_errors	ENST00000370490	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.774	A	A	144905900	G	A	144905900	3	1	148	1	0	0	0	0	1	0	0	0	14788	1145	40	1	1959	1	SLITRK2	23	144905900	Missense_Mutation	SNP	G	TCGA-R6-A8W5-01B-11D-A37C-09	2189029	144905900	10364660	196	37851											
PER3	8863	genome.wustl.edu	37	chr1	7895980	7895980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagacacctgagcgcattCtcatgacataccaggtacct	11	8	9	13	1	1	3	1	2	1	1	2	3	1	3	3	2	3	3	3	2	2	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:7895980C>G	ENST00000361923.2	+	19	3521	c.3346C>G	c.(3346-3348)Ctc>Gtc	p.L1116V	PER3_ENST00000377532.3_Missense_Mutation_p.L1125V	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1116					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)		TGAGCGCATTCTCATGACATA	0.393																																																	0													63	60	61					1																	7895980		2203	4300	6503	SO:0001583	missense	0			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.3346C>G	1.37:g.7895980C>G	ENSP00000355031:p.Leu1116Val		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.L1116V	ENST00000361923.2	37	c.3346	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	C	9.335	1.061444	0.19987	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.16196	2.36;2.36	3.98	3.98	0.46160	Period circadian-like, C-terminal (1);	0.297599	0.30791	N	0.008874	T	0.34366	0.0895	L	0.55990	1.75	0.26540	N	0.974102	D;D;D	0.76494	0.977;0.999;0.999	P;D;D	0.71184	0.766;0.952;0.972	T	0.04579	-1.0941	10	0.62326	D	0.03	.	12.9552	0.58424	0.0:1.0:0.0:0.0	.	165;1125;1116	B4DR65;P56645-2;P56645	.;.;PER3_HUMAN	V	1125;1116;309	ENSP00000366755:L1125V;ENSP00000355031:L1116V	ENSP00000355031:L1116V	L	+	1	0	PER3	7818567	1.000000	0.71417	0.040000	0.18447	0.325000	0.28411	3.040000	0.49799	2.052000	0.61016	0.557000	0.71058	CTC	PER3	-	pfam_Period_circadian-like_C	ENSG00000049246		0.393	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	-	0	20	0	C	NM_016831		7895980	1	tier1	-	no_errors	ENST00000361923	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.886	G	G	7895980	C	G	7895980	3	3	149	1	0	0	0	0	1	0	0	0	11770	913	32	5	3420	5	PER3	1	7895980	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09		7895980	241354641	1	37852											
TNFRSF8	943	genome.wustl.edu	37	chr1	12175723	12175723	+	Missense_Mutation	SNP	A	A	G	1	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	tctgtgccacatcagccaccAactcccgtgcccgctgtgtc	6	9	8	18	2	2	0	1	0	1	0	4	0	3	0	5	0	4	1	5	0	1	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:12175723A>G	ENST00000263932.2	+	8	1105	c.883A>G	c.(883-885)Aac>Gac	p.N295D	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.N184D	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	295					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)	ATCAGCCACCAACTCCCGTGC	0.607																																																	0													153	114	127					1																	12175723		2203	4300	6503	SO:0001583	missense	0			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.883A>G	1.37:g.12175723A>G	ENSP00000263932:p.Asn295Asp		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.N295D	ENST00000263932.2	37	c.883	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479189	0.44044	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.07216	3.21;3.21	3.83	-0.327	0.12694	.	3.372290	0.01051	N	0.004469	T	0.21103	0.0508	L	0.55213	1.73	0.30555	N	0.765094	D;P	0.69078	0.997;0.931	D;P	0.75020	0.985;0.657	T	0.13629	-1.0502	10	0.39692	T	0.17	-18.6372	3.9044	0.09176	0.4208:0.197:0.0:0.3823	.	184;295	D3YTD8;P28908	.;TNR8_HUMAN	D	295;184	ENSP00000263932:N295D;ENSP00000390650:N184D	ENSP00000263932:N295D	N	+	1	0	TNFRSF8	12098310	0.922000	0.31269	0.972000	0.41901	0.726000	0.41606	1.015000	0.29963	0.149000	0.19098	0.383000	0.25322	AAC	TNFRSF8	-	NULL	ENSG00000120949		0.607	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	-	0	32	0	A			12175723	1	tier1	-	no_errors	ENST00000263932	ensembl	human	known	74_37	missense	40.74	16	11	SNP	0.917	G	G	12175723	A	G	12175723	3	3	149	1	0	0	0	0	1	0	0	0	16346	130	5	4	913	4	TNFRSF8	1	12175723	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	4279743	12175723	237074898	2	37853											
PINK1	65018	genome.wustl.edu	37	chr1	20975099	20975099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtacgtggatcggggcGgaaacggctgtctgatggcc	6	8	18	9	4	1	1	0	1	1	0	2	3	1	3	1	7	2	3	1	7	2	1	rs574890623		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:20975099G>A	ENST00000321556.4	+	6	1319	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	409	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.		G -> V (in PARK6). {ECO:0000269|PubMed:16401616}.		activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.G409R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGATCGGGGCGGAAACGGCTG	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		18630	0		0	False		,,,				2504	0				Esophageal Squamous(145;853 1803 8146 34412 35011)												1	Substitution - Missense(1)	lung(1)											67	62	64					1																	20975099		2203	4300	6503	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1225G>A	1.37:g.20975099G>A	ENSP00000364204:p.Gly409Arg		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G409R	ENST00000321556.4	37	c.1225	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.264916	0.95399	.	.	ENSG00000158828	ENST00000321556	D	0.81739	-1.53	6.17	6.17	0.99709	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	0.92632	0.7659	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.93807	0.7106	10	0.87932	D	0	-4.1894	16.3795	0.83443	0.0:0.0:1.0:0.0	.	102;409	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	R	409	ENSP00000364204:G409R	ENSP00000364204:G409R	G	+	1	0	PINK1	20847686	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	6.969000	0.76092	2.941000	0.99782	0.655000	0.94253	GGA	PINK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000158828		0.627	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	-	0	55	0	G	NM_032409		20975099	1	tier1	-	no_errors	ENST00000321556	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	A	A	20975099	G	A	20975099	3	1	149	1	0	0	0	0	1	0	0	0	11971	1117	39	1	1247	1	PINK1	1	20975099	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	8799376	20975099	228275522	3	37854											
MYOM3	127294	genome.wustl.edu	37	chr1	24417405	24417405	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgatagctctgaccttcGacgaggccttggattgggca	9	9	12	11	3	1	1	0	1	1	0	2	5	1	2	3	3	2	2	3	3	2	4	rs201898557	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:24417405G>T	ENST00000374434.3	-	12	1476	c.1314C>A	c.(1312-1314)gtC>gtA	p.V438V	MYOM3_ENST00000329601.7_Silent_p.V438V|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.V439V	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	438	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.V438V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTGACCTTCGACGAGGCCTT	0.632																																																	1	Substitution - coding silent(1)	endometrium(1)											102	112	109					1																	24417405		2080	4202	6282	SO:0001819	synonymous_variant	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1314C>A	1.37:g.24417405G>T			A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V439	ENST00000374434.3	37	c.1317	CCDS41281.1	1																																																																																			MYOM3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142661		0.632	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2		0	47	0	G	NM_152372		24417405	-1			no_errors	ENST00000330966	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.000	T	T	24417405	G	T	24417405	2	4	149	1	0	0	0	0	0	0	0	1	10131	1045	37	2		2	MYOM3	1	24417405	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	3442306	24417405	224833216	4	37855											
BSDC1	55108	genome.wustl.edu	37	chr1	32846846	32846846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagtaggttgctgggtcCgactgcaggctatagaggcg	8	10	15	8	2	0	1	0	0	0	1	1	2	1	1	1	4	3	5	1	4	4	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:32846846C>T	ENST00000455895.2	-	5	414	c.381G>A	c.(379-381)tcG>tcA	p.S127S	BSDC1_ENST00000526031.1_Silent_p.S32S|BSDC1_ENST00000419121.2_Silent_p.S71S|BSDC1_ENST00000449308.1_Silent_p.S127S|BSDC1_ENST00000446293.2_Silent_p.S144S|BSDC1_ENST00000341071.7_Silent_p.S144S|BSDC1_ENST00000413080.1_Silent_p.S127S	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	127										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTGCTGGGTCCGACTGCAGGC	0.517																																																	0													59	57	58					1																	32846846		2203	4300	6503	SO:0001819	synonymous_variant	0			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.381G>A	1.37:g.32846846C>T			B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Silent	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.S144	ENST00000455895.2	37	c.432	CCDS363.2	1																																																																																			BSDC1	-	NULL	ENSG00000160058		0.517	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	-	0	29	0	C	NM_018045		32846846	-1	tier1	-	no_errors	ENST00000341071	ensembl	human	known	74_37	silent	40.00	18	12	SNP	0.894	T	T	32846846	C	T	32846846	2	4	149	1	0	0	0	0	0	0	0	1	1532	639	23	1		1	BSDC1	1	32846846	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	8429441	32846846	216403775	5	37856											
KDM4A	9682	genome.wustl.edu	37	chr1	44149426	44149426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtcagcctttaagcaaGctcccccgccatcacccact	8	7	6	20	3	2	0	2	0	0	0	3	0	3	0	6	0	3	2	6	0	2	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:44149426G>T	ENST00000372396.3	+	12	1940	c.1806G>T	c.(1804-1806)aaG>aaT	p.K602N		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	602	Interaction with NCOR1.				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						CTTTAAGCAAGCTCCCCCGCC	0.468																																																	0													105	101	102					1																	44149426		2203	4300	6503	SO:0001583	missense	0			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.1806G>T	1.37:g.44149426G>T	ENSP00000361473:p.Lys602Asn		Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.K602N	ENST00000372396.3	37	c.1806	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118723	0.77323	.	.	ENSG00000066135	ENST00000372396	T	0.52295	0.67	5.47	3.57	0.40892	.	0.214072	0.48286	D	0.000185	T	0.62319	0.2418	M	0.68317	2.08	0.36109	D	0.844652	D	0.71674	0.998	D	0.76071	0.987	T	0.67753	-0.5589	10	0.44086	T	0.13	-17.7547	10.7015	0.45931	0.1815:0.0:0.8185:0.0	.	602	O75164	KDM4A_HUMAN	N	602	ENSP00000361473:K602N	ENSP00000361473:K602N	K	+	3	2	KDM4A	43922013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.018000	0.30002	2.589000	0.87451	0.551000	0.68910	AAG	KDM4A	-	NULL	ENSG00000066135		0.468	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	-	0	47	0	G	NM_014663		44149426	1	tier1	-	no_errors	ENST00000372396	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	44149426	G	T	44149426	3	4	149	1	0	0	0	0	1	0	0	0	8155	962	34	3	1848	3	KDM4A	1	44149426	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	11302580	44149426	205101195	6	37857											
C8B	732	genome.wustl.edu	37	chr1	57431590	57431590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaatagctccaccggcGccctccaagcccatgtcctg	10	6	9	16	2	0	1	0	0	0	1	3	2	3	1	6	1	2	1	6	1	4	1	rs375318933		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:57431590G>A	ENST00000371237.4	-	1	98	c.32C>T	c.(31-33)gCg>gTg	p.A11V	RP5-1103B4.3_ENST00000417420.1_RNA|C8B_ENST00000535057.1_5'UTR|AL161740.1_ENST00000408664.1_RNA|C8B_ENST00000494324.1_5'UTR|C8B_ENST00000543257.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	11					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						CTCCACCGGCGCCCTCCAAGC	0.512													G|||	1	0.000199681	8e-04	0	5008	,	,		17699	0		0	False		,,,				2504	0																0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	75	77	76		32	-3	0	1		76	0,8600		0,0,4300	no	missense	C8B	NM_000066.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	11/592	57431590	1,13005	2203	4300	6503	SO:0001583	missense	0			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.32C>T	1.37:g.57431590G>A	ENSP00000360281:p.Ala11Val		A1L4K7	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.A11V	ENST00000371237.4	37	c.32	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	G	1.100	-0.661405	0.03454	2.27E-4	0.0	ENSG00000021852	ENST00000371237	T	0.23950	1.88	5.23	-3.05	0.05396	.	1.767260	0.02326	N	0.073428	T	0.08223	0.0205	N	0.02011	-0.69	0.09310	N	0.999995	B	0.09022	0.002	B	0.04013	0.001	T	0.32666	-0.9898	10	0.02654	T	1	2.0418	6.4832	0.22075	0.5618:0.14:0.2982:0.0	.	11	P07358	CO8B_HUMAN	V	11	ENSP00000360281:A11V	ENSP00000360281:A11V	A	-	2	0	C8B	57204178	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.581000	0.00424	-0.854000	0.04131	-0.459000	0.05422	GCG	C8B	-	NULL	ENSG00000021852		0.512	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	-	0	32	0	G			57431590	-1	tier1	-	no_errors	ENST00000371237	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.000	A	A	57431590	G	A	57431590	3	1	149	1	0	0	0	0	1	0	0	0	2424	1087	38	1	1791	1	C8B	1	57431590	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	13282164	57431590	191819031	7	37858											
WDR78	79819	genome.wustl.edu	37	chr1	67288089	67288089	+	Silent	SNP	A	A	T	1	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	atatttctcagttcatacacAgaaacctgtccatcactgtc	12	13	4	12	0	3	1	3	0	1	1	6	1	4	1	2	0	2	1	2	0	3	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:67288089A>T	ENST00000371026.3	-	16	2506	c.2451T>A	c.(2449-2451)tcT>tcA	p.S817S	WDR78_ENST00000431318.1_Silent_p.S530S	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	817					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GTTCATACACAGAAACCTGTC	0.383																																																	0													126	123	124					1																	67288089		2203	4300	6503	SO:0001819	synonymous_variant	0			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2451T>A	1.37:g.67288089A>T			A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S817	ENST00000371026.3	37	c.2451	CCDS635.1	1																																																																																			WDR78	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000152763		0.383	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR78	HGNC	protein_coding	OTTHUMT00000025404.1	-	0	19	0	A	NM_024763		67288089	-1	tier1	-	no_errors	ENST00000371026	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.148	T	T	67288089	A	T	67288089	2	4	149	1	0	0	0	0	0	0	0	1	17377	175	7	5		5	WDR78	1	67288089	Silent	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	9856499	67288089	181962532	8	37859											
CRYZ	1429	genome.wustl.edu	37	chr1	75172868	75172868	+	Silent	SNP	T	T	A	0	1	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	atttcaataattatatcaatTcctttctcaccaacatactt	14	17	0	10	0	3	0	3	0	1	0	5	0	4	0	2	0	2	0	2	0	7	8			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:75172868T>A	ENST00000340866.5	-	7	738	c.651A>T	c.(649-651)ggA>ggT	p.G217G	CRYZ_ENST00000417775.1_Silent_p.G217G|CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000370872.3_Silent_p.G80G|CRYZ_ENST00000370871.3_Intron	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	217					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	TTATATCAATTCCTTTCTCAC	0.289																																																	0													62	73	69					1																	75172868		2187	4278	6465	SO:0001819	synonymous_variant	0				CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.651A>T	1.37:g.75172868T>A			A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.G217	ENST00000340866.5	37	c.651	CCDS665.1	1																																																																																			CRYZ	-	pfam_ADH_C,smart_PKS_ER	ENSG00000116791		0.289	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYZ	HGNC	protein_coding	OTTHUMT00000026514.1	-	0	30	0	T			75172868	-1	tier1	-	no_errors	ENST00000340866	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.892	A	A	75172868	T	A	75172868	2	1	149	1	0	0	0	0	0	0	0	1	3929	1770	62	5		5	CRYZ	1	75172868	Silent	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	7884779	75172868	174077753	9	37860											
LRRC8B	23507	genome.wustl.edu	37	chr1	90049550	90049550	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggaagtgctaagcctGgagcttatcccagaggtgaa	13	8	13	7	0	0	2	0	1	0	1	1	5	1	4	2	3	3	2	2	3	5	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:90049550G>A	ENST00000330947.2	+	5	1701	c.1341G>A	c.(1339-1341)ctG>ctA	p.L447L	LRRC8B_ENST00000358200.4_Silent_p.L447L|LRRC8B_ENST00000439853.1_Silent_p.L447L|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	447					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)		TGCTAAGCCTGGAGCTTATCC	0.473																																																	0													55	57	56					1																	90049550		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1341G>A	1.37:g.90049550G>A			D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L447	ENST00000330947.2	37	c.1341	CCDS724.1	1																																																																																			LRRC8B	-	NULL	ENSG00000197147		0.473	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	-	0	25	0	G	NM_015350		90049550	1	tier1	-	no_errors	ENST00000330947	ensembl	human	known	74_37	silent	22.22	21	6	SNP	1.000	A	A	90049550	G	A	90049550	2	1	149	1	0	0	0	0	0	0	0	1	9057	1335	47	3		3	LRRC8B	1	90049550	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	14876682	90049550	159201071	10	37861											
RFX5	5993	genome.wustl.edu	37	chr1	151316983	151316983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agttggctgtgctgagtgggCggcaacaggcaagactctca	9	8	15	9	1	1	2	1	1	1	1	2	2	1	2	0	4	2	5	0	4	2	1	rs377555466		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:151316983C>T	ENST00000290524.4	-	7	561	c.383G>A	c.(382-384)cGc>cAc	p.R128H	RFX5_ENST00000452671.2_Missense_Mutation_p.R128H|RP11-126K1.8_ENST00000422153.1_RNA|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000368870.2_Missense_Mutation_p.R128H|RFX5_ENST00000452513.2_Missense_Mutation_p.R88H	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	128					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGAGTGGGCGGCAACAGGC	0.547																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	54	54	54		383,383	5.8	1	1		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RFX5	NM_000449.3,NM_001025603.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	128/617,128/617	151316983	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.383G>A	1.37:g.151316983C>T	ENSP00000290524:p.Arg128His		B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.R128H	ENST00000290524.4	37	c.383	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777349	0.90195	0.0	1.16E-4	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595;ENST00000450506;ENST00000458484	D;D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.79	5.79	0.91817	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	N	0.21097	0.63	0.80722	D	1	D;D	0.89917	1.0;0.983	D;P	0.91635	0.999;0.728	T	0.76468	-0.2948	10	0.15066	T	0.55	-9.3157	18.5999	0.91246	0.0:1.0:0.0:0.0	.	88;128	B7Z848;P48382	.;RFX5_HUMAN	H	128;128;20;128;88;128;128;128;128	ENSP00000290524:R128H;ENSP00000357864:R128H;ENSP00000390769:R20H;ENSP00000389130:R128H;ENSP00000398388:R88H;ENSP00000376502:R128H;ENSP00000399095:R128H;ENSP00000398666:R128H;ENSP00000409187:R128H	ENSP00000290524:R128H	R	-	2	0	RFX5	149583607	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.767000	0.47637	2.745000	0.94114	0.462000	0.41574	CGC	RFX5	-	pfam_DNA-bd_RFX	ENSG00000143390		0.547	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6		0	18	0	C	NM_000449		151316983	-1			no_errors	ENST00000290524	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	151316983	C	T	151316983	3	4	149	1	0	0	0	0	1	0	0	0	13311	768	27	1	1487	1	RFX5	1	151316983	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	61267433	151316983	97933638	11	37862											
TDRD10	126668	genome.wustl.edu	37	chr1	154517337	154517337	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgattttggacagttggcCaccatccctgtgcagtctct	7	14	9	11	0	1	1	0	1	1	0	3	2	2	2	3	2	1	2	3	2	0	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:154517337C>A	ENST00000368480.3	+	11	949	c.864C>A	c.(862-864)gcC>gcA	p.A288A	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Silent_p.A288A			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	288	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A288A(1)		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)			GACAGTTGGCCACCATCCCTG	0.542																																																	1	Substitution - coding silent(1)	lung(1)											224	191	202					1																	154517337		2203	4300	6503	SO:0001819	synonymous_variant	0			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.864C>A	1.37:g.154517337C>A			A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A288	ENST00000368480.3	37	c.864	CCDS41406.1	1																																																																																			TDRD10	-	pfam_Tudor	ENSG00000163239		0.542	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2		0	29	0	C	NM_182499		154517337	1			no_errors	ENST00000368480	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.775	A	A	154517337	C	A	154517337	2	1	149	1	0	0	0	0	0	0	0	1	15778	581	21	3		3	TDRD10	1	154517337	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	3200354	154517337	94733284	12	37863											
MSTO1	55154	genome.wustl.edu	37	chr1	155583316	155583316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaccactggggaagaaatCttggctcagtatttacaaca	13	11	9	8	0	2	1	1	0	1	1	2	2	2	2	1	3	3	3	1	3	6	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:155583316C>G	ENST00000245564.2	+	12	1371	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.I414M|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	449					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GGGAAGAAATCTTGGCTCAGT	0.537																																																	0													35	29	31					1																	155583316		2203	4295	6498	SO:0001583	missense	0			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"misato homolog 1 (Drosophila)"			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.1347C>G	1.37:g.155583316C>G	ENSP00000245564:p.Ile449Met		Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	pfam_Misato_II_tubulin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase	p.I449M	ENST00000245564.2	37	c.1347	CCDS1114.1	1	.	.	.	.	.	.	.	.	.	.	c	0.979	-0.697582	0.03279	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.38560	1.13;1.15	2.8	2.8	0.32819	.	0.220707	0.38164	N	0.001791	T	0.07279	0.0184	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B;B;B	0.16802	0.001;0.0;0.001;0.019;0.0;0.002;0.002	B;B;B;B;B;B;B	0.19666	0.002;0.001;0.0;0.026;0.001;0.003;0.003	T	0.15235	-1.0444	10	0.12103	T	0.63	.	9.8457	0.41026	0.0:0.7881:0.2119:0.0	.	394;449;414;271;449;449;449	B4DLS9;A8K3J5;Q9BUK6-7;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;MSTO1_HUMAN;.;.	M	449;414	ENSP00000245564:I449M;ENSP00000357325:I414M	ENSP00000245564:I449M	I	+	3	3	MSTO1	153849940	0.350000	0.24878	0.997000	0.53966	0.308000	0.27856	0.152000	0.16302	1.579000	0.49836	0.306000	0.20318	ATC	MSTO1	-	NULL	ENSG00000125459		0.537	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1		0	66	0	C	NM_018116		155583316	1			no_errors	ENST00000245564	ensembl	human	known	74_37	missense	9.09	60	6	SNP	1.000	G	G	155583316	C	G	155583316	3	3	149	1	0	0	0	0	1	0	0	0	9932	903	32	5	1393	5	MSTO1	1	155583316	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	1065979	155583316	93667305	13	37864											
CACYBP	27101	genome.wustl.edu	37	chr1	174979201	174979201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagcaagccaaaggaGacacggaattttgagacttt	16	7	12	6	1	0	3	0	1	0	3	0	8	0	4	1	2	2	1	1	2	4	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:174979201G>T	ENST00000367679.2	+	6	1121	c.673G>T	c.(673-675)Gac>Tac	p.D225Y	CACYBP_ENST00000367681.2_Missense_Mutation_p.D182Y|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000405362.1_Missense_Mutation_p.D182Y	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	225	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				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)	p.D225N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AGCCAAAGGAGACACGGAATT	0.378																																																	1	Substitution - Missense(1)	prostate(1)											100	96	98					1																	174979201		2203	4300	6503	SO:0001583	missense	0			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.673G>T	1.37:g.174979201G>T	ENSP00000356652:p.Asp225Tyr		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	pfam_Siah-Interact_N,pfam_CS_dom,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_SGS	p.D225Y	ENST00000367679.2	37	c.673	CCDS1315.1	1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688178	0.88639	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	.	.	.	6.02	6.02	0.97574	SGS (1);	0.244102	0.46758	D	0.000270	T	0.78071	0.4226	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	T	0.78373	-0.2229	9	0.72032	D	0.01	-24.3566	20.5407	0.99260	0.0:0.0:1.0:0.0	.	225	Q9HB71	CYBP_HUMAN	Y	182;198;225;182	.	ENSP00000356652:D225Y	D	+	1	0	CACYBP	173245824	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.168000	0.71908	2.865000	0.98341	0.655000	0.94253	GAC	CACYBP	-	pfscan_SGS	ENSG00000116161		0.378	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACYBP	HGNC	protein_coding	OTTHUMT00000084583.3		0	41	0	G	NM_014412		174979201	1			no_errors	ENST00000367679	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	174979201	G	T	174979201	3	4	149	1	0	0	0	0	1	0	0	0	2571	942	33	3	695	3	CACYBP	1	174979201	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	19395885	174979201	74271420	14	37865											
CFH	3075	genome.wustl.edu	37	chr1	196706106	196706106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaattacatgcaaagatGgaagatggcagtcaatacca	19	7	9	6	0	1	3	1	0	0	3	1	4	1	4	1	2	3	2	1	2	7	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:196706106G>A	ENST00000367429.4	+	16	2806	c.2566G>A	c.(2566-2568)Gga>Aga	p.G856R		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	856	Sushi 14. {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						ATGCAAAGATGGAAGATGGCA	0.343																																																	0													86	82	83					1																	196706106		2203	4300	6503	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2566G>A	1.37:g.196706106G>A	ENSP00000356399:p.Gly856Arg		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G856R	ENST00000367429.4	37	c.2566	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	13.93	2.385467	0.42308	.	.	ENSG00000000971	ENST00000367429	T	0.72615	-0.67	5.91	5.0	0.66597	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.84502	0.5486	M	0.90483	3.12	0.80722	D	1	D	0.64830	0.994	P	0.62014	0.897	D	0.87026	0.2132	9	0.62326	D	0.03	.	12.1191	0.53882	0.0795:0.0:0.9205:0.0	.	856	P08603	CFAH_HUMAN	R	856	ENSP00000356399:G856R	ENSP00000356399:G856R	G	+	1	0	CFH	194972729	1.000000	0.71417	0.120000	0.21714	0.072000	0.16883	4.139000	0.58024	1.512000	0.48834	0.555000	0.69702	GGA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.343	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	-	0	50	0	G	NM_000186		196706106	1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	missense	51.43	17	18	SNP	0.884	A	A	196706106	G	A	196706106	3	1	149	1	0	0	0	0	1	0	0	0	3290	1349	47	3	2646	3	CFH	1	196706106	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	21726905	196706106	52544515	15	37866											
CFHR5	81494	genome.wustl.edu	37	chr1	196964906	196964906	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtgaagttaaggagataAgaaaagaggaatatggacac	19	7	13	2	0	0	4	0	1	0	3	0	7	0	6	0	4	0	1	0	4	7	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:196964906A>C	ENST00000256785.4	+	5	776	c.667A>C	c.(667-669)Aga>Cga	p.R223R	CFHR5_ENST00000367414.5_Silent_p.R247R			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	223	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TAAGGAGATAAGAAAAGAGGA	0.348																																																	0													113	117	115					1																	196964906		2203	4300	6503	SO:0001819	synonymous_variant	0			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.667A>C	1.37:g.196964906A>C			Q2NKK2	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R247	ENST00000256785.4	37	c.739	CCDS1387.1	1																																																																																			CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134389		0.348	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	-	0	26	0	A	NM_030787		196964906	1	tier1	-	no_errors	ENST00000367414	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.000	C	C	196964906	A	C	196964906	2	2	149	1	0	0	0	0	0	0	0	1	3295	64	3	4		4	CFHR5	1	196964906	Silent	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	258800	196964906	52285715	16	37867											
ESRRG	2104	genome.wustl.edu	37	chr1	216692714	216692714	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatcaaaatttccatccaAgcactctgcagaaggctcat	14	9	7	11	0	3	1	2	0	1	1	5	2	5	2	2	2	2	3	2	2	4	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:216692714A>T	ENST00000408911.3	-	6	1065	c.912T>A	c.(910-912)gcT>gcA	p.A304A	ESRRG_ENST00000359162.2_Silent_p.A281A|ESRRG_ENST00000366938.2_Silent_p.A281A|ESRRG_ENST00000487276.1_Silent_p.A281A|ESRRG_ENST00000463665.1_Silent_p.A242A|ESRRG_ENST00000493603.1_Silent_p.A281A|ESRRG_ENST00000493748.1_Silent_p.A281A|ESRRG_ENST00000366937.1_Silent_p.A316A|ESRRG_ENST00000361395.2_Silent_p.A281A|ESRRG_ENST00000366940.2_Silent_p.A281A|ESRRG_ENST00000361525.3_Silent_p.A281A|ESRRG_ENST00000391890.3_Silent_p.A288A|ESRRG_ENST00000360012.3_Silent_p.A281A	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	304					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)	TTTCCATCCAAGCACTCTGCA	0.453																																																	0													69	69	69					1																	216692714		2203	4300	6503	SO:0001819	synonymous_variant	0			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.912T>A	1.37:g.216692714A>T			A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.A304	ENST00000408911.3	37	c.912	CCDS41468.1	1																																																																																			ESRRG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000196482		0.453	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2		0	35	0	A	NM_206595		216692714	-1			no_errors	ENST00000408911	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.978	T	T	216692714	A	T	216692714	2	4	149	1	0	0	0	0	0	0	0	1	5278	59	3	5		5	ESRRG	1	216692714	Silent	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	19727808	216692714	32557907	17	37868											
ENAH	55740	genome.wustl.edu	37	chr1	225685496	225685496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctatgcagtatttgacttgCtcagttcctgcctgattgct	6	17	8	10	0	2	2	1	2	1	0	3	2	3	2	2	0	4	5	2	0	2	6			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:225685496C>T	ENST00000366844.3	-	15	2208	c.1757G>A	c.(1756-1758)aGc>aAc	p.S586N	ENAH_ENST00000284563.6_Missense_Mutation_p.S812N|ENAH_ENST00000366843.2_Missense_Mutation_p.S565N	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	586	EVH2 block C.|EVH2.				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)		ATTTGACTTGCTCAGTTCCTG	0.343																																																	0													100	91	94					1																	225685496		2203	4300	6503	SO:0001583	missense	0			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.1757G>A	1.37:g.225685496C>T	ENSP00000355809:p.Ser586Asn		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.S586N	ENST00000366844.3	37	c.1757	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924285	0.52653	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.77098	-0.02;-0.05;-1.07	5.24	5.24	0.73138	VASP tetramerisation (1);	0.111717	0.64402	D	0.000009	T	0.63117	0.2484	N	0.03154	-0.405	0.32004	N	0.60299	P;B	0.36010	0.532;0.256	B;B	0.44224	0.259;0.444	T	0.68296	-0.5446	10	0.27082	T	0.32	-14.125	13.5061	0.61485	0.0:0.9246:0.0:0.0753	.	565;586	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	N	586;565;812;527	ENSP00000355809:S586N;ENSP00000355808:S565N;ENSP00000284563:S812N	ENSP00000284563:S812N	S	-	2	0	ENAH	223752119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.041000	0.30291	2.602000	0.87976	0.585000	0.79938	AGC	ENAH	-	pfam_VASP_tetra	ENSG00000154380		0.343	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	-	0	73	0	C	NM_018212		225685496	-1	tier1	-	no_errors	ENST00000366844	ensembl	human	known	74_37	missense	44.78	37	30	SNP	1.000	T	T	225685496	C	T	225685496	3	4	149	1	0	0	0	0	1	0	0	0	5127	797	28	3	22	3	ENAH	1	225685496	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	8992782	225685496	23565125	18	37869											
RYR2	6262	genome.wustl.edu	37	chr1	237777491	237777491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaacctcagctcctctatgCcattgagaacaagtacatgc	12	10	7	12	0	2	2	1	2	1	1	3	3	3	2	3	0	6	2	3	0	5	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:237777491C>T	ENST00000366574.2	+	37	5380	c.5063C>T	c.(5062-5064)gCc>gTc	p.A1688V	RYR2_ENST00000542537.1_Missense_Mutation_p.A1672V|RYR2_ENST00000360064.6_Missense_Mutation_p.A1686V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1688	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCTCTATGCCATTGAGAAC	0.557																																																	0													66	67	67					1																	237777491		2146	4256	6402	SO:0001583	missense	0			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.5063C>T	1.37:g.237777491C>T	ENSP00000355533:p.Ala1688Val		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A1686V	ENST00000366574.2	37	c.5057	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.284443	0.95517	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97089	-4.24;-4.21;-4.23	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000006	D	0.97651	0.9230	M	0.80422	2.495	0.80722	D	1	D	0.57899	0.981	P	0.49752	0.621	D	0.98068	1.0397	10	0.72032	D	0.01	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	1688	Q92736	RYR2_HUMAN	V	1688;1686;1672	ENSP00000355533:A1688V;ENSP00000353174:A1686V;ENSP00000443798:A1672V	ENSP00000353174:A1686V	A	+	2	0	RYR2	235844114	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.027000	0.70881	2.730000	0.93505	0.655000	0.94253	GCC	RYR2	-	NULL	ENSG00000198626		0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0	61	0	C	NM_001035		237777491	1			no_errors	ENST00000360064	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	237777491	C	T	237777491	3	4	149	1	0	0	0	0	1	0	0	0	13814	739	26	3	5209	3	RYR2	1	237777491	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	12091995	237777491	11473130	19	37870											
ZNF672	79894	genome.wustl.edu	37	chr1	249141662	249141662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccgagcgcacaggcgcacGcatgctggccagaccctcta	8	5	11	17	4	1	1	0	0	1	1	2	2	2	1	3	2	2	4	3	2	1	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr1:249141662G>A	ENST00000306562.3	+	4	935	c.189G>A	c.(187-189)acG>acA	p.T63T		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	63					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(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACAGGCGCACGCATGCTGGCC	0.652																																																	0													28	21	24					1																	249141662		2200	4297	6497	SO:0001819	synonymous_variant	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.189G>A	1.37:g.249141662G>A			Q96H65|Q96IM3|Q9H6G5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T63	ENST00000306562.3	37	c.189	CCDS1638.1	1																																																																																			ZNF672	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171161		0.652	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2		0	27	0	G	NM_024836		249141662	1			no_errors	ENST00000306562	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.000	A	A	249141662	G	A	249141662	2	1	149	1	0	0	0	0	0	0	0	1	18127	1074	38	1		1	ZNF672	1	249141662	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	11364171	249141662	108959	20	37871											
TPO	7173	genome.wustl.edu	37	chr2	1499881	1499881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agggtgcccatggatgccttCcaagtcggcaaattccccga	9	8	11	13	2	0	0	0	0	0	0	3	2	2	1	5	3	2	1	5	3	2	2	rs199561216		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:1499881C>G	ENST00000345913.4	+	12	2218	c.2127C>G	c.(2125-2127)ttC>ttG	p.F709L	TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.F536L|TPO_ENST00000346956.3_Missense_Mutation_p.F709L|TPO_ENST00000382201.3_Missense_Mutation_p.F652L|TPO_ENST00000337415.3_Missense_Mutation_p.F709L|TPO_ENST00000329066.4_Missense_Mutation_p.F709L|TPO_ENST00000382198.1_Missense_Mutation_p.F536L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	709					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)	TGGATGCCTTCCAAGTCGGCA	0.557																																																	0													68	64	65					2																	1499881		2203	4300	6503	SO:0001583	missense	0				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.2127C>G	2.37:g.1499881C>G	ENSP00000318820:p.Phe709Leu		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.F709L	ENST00000345913.4	37	c.2127	CCDS1643.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.30|13.30	2.197090|2.197090	0.38806|0.38806	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607|ENST00000446278	T;T;T;T;T;T;T;T;T|.	0.80566|.	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39|.	4.59|4.59	0.255|0.255	0.15561|0.15561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74496|0.74496	0.3724|0.3724	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.999;0.999;1.0|.	T|T	0.73357|0.73357	-0.4008|-0.4008	10|5	0.87932|.	D|.	0|.	-35.6|-35.6	8.7669|8.7669	0.34708|0.34708	0.0:0.3298:0.0:0.6702|0.0:0.3298:0.0:0.6702	.|.	709;536;652;709|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	L|C	709;709;709;536;709;652;536;638;183|184	ENSP00000337263:F709L;ENSP00000318820:F709L;ENSP00000263886:F709L;ENSP00000332044:F536L;ENSP00000329869:F709L;ENSP00000371636:F652L;ENSP00000371633:F536L;ENSP00000405788:F638L;ENSP00000419461:F183L|.	ENSP00000329869:F709L|.	F|S	+|+	3|2	2|0	TPO|TPO	1478888|1478888	0.896000|0.896000	0.30565|0.30565	0.740000|0.740000	0.30986|0.30986	0.018000|0.018000	0.09664|0.09664	1.415000|1.415000	0.34748|0.34748	0.004000|0.004000	0.14682|0.14682	0.561000|0.561000	0.74099|0.74099	TTC|TCC	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000115705		0.557	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	-	0	40	0	C	NM_000547		1499881	1	tier1	-	no_errors	ENST00000329066	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.700	G	G	1499881	C	G	1499881	3	3	149	1	0	0	0	0	1	0	0	0	16458	854	30	5	2169	5	TPO	2	1499881	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09		1499881	241699492	21	37872											
MBOAT2	129642	genome.wustl.edu	37	chr2	9017337	9017337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	aaatactccagtaagcttggCatgcgcctgcaatgaaaaga	15	8	9	9	1	0	2	0	1	0	1	1	2	1	2	2	1	4	4	2	1	6	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:9017337C>T	ENST00000305997.3	-	7	711	c.513G>A	c.(511-513)atG>atA	p.M171I	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	171					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)					GTAAGCTTGGCATGCGCCTGC	0.438																																					Ovarian(194;1699 3813 22401)												0													77	68	71					2																	9017337		2203	4300	6503	SO:0001583	missense	0			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.513G>A	2.37:g.9017337C>T	ENSP00000302177:p.Met171Ile		A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt	p.M171I	ENST00000305997.3	37	c.513	CCDS1660.1	2	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361773	0.24684	.	.	ENSG00000143797	ENST00000305997;ENST00000462696	T;T	0.72942	1.0;-0.7	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	L	0.43701	1.375	0.80722	D	1	B;B	0.19073	0.033;0.03	B;B	0.23018	0.042;0.043	T	0.59825	-0.7381	10	0.20519	T	0.43	-30.7983	18.8419	0.92188	0.0:1.0:0.0:0.0	.	171;171	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	I	171;148	ENSP00000302177:M171I;ENSP00000417409:M148I	ENSP00000302177:M171I	M	-	3	0	MBOAT2	8934788	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.451000	0.82905	0.650000	0.86243	ATG	MBOAT2	-	pfam_MBOAT_fam	ENSG00000143797		0.438	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT2	HGNC	protein_coding	OTTHUMT00000206735.1	-	0	47	0	C	NM_138799		9017337	-1	tier1	-	no_errors	ENST00000305997	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T	T	9017337	C	T	9017337	3	4	149	1	0	0	0	0	1	0	0	0	9395	710	25	3	1077	3	MBOAT2	2	9017337	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	7517456	9017337	234182036	22	37873											
ADCY3	109	genome.wustl.edu	37	chr2	25061488	25061488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctgggagatgtgcacGcgcctggattgcagagagag	8	8	17	8	2	1	3	0	0	1	3	1	6	1	4	1	2	3	3	1	2	0	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:25061488G>A	ENST00000260600.5	-	7	2210	c.1359C>T	c.(1357-1359)cgC>cgT	p.R453R	ADCY3_ENST00000405392.1_Silent_p.R86R	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	453					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGATGTGCACGCGCCTGGATT	0.637																																																	0													103	103	103					2																	25061488		2203	4300	6503	SO:0001819	synonymous_variant	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1359C>T	2.37:g.25061488G>A			B3KT86|Q53T54|Q9UDB1	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R453	ENST00000260600.5	37	c.1359	CCDS1715.1	2																																																																																			ADCY3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000138031		0.637	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	-	0	57	0	G			25061488	-1	tier1	-	no_errors	ENST00000260600	ensembl	human	known	74_37	silent	28.95	27	11	SNP	0.001	A	A	25061488	G	A	25061488	2	1	149	1	0	0	0	0	0	0	0	1	295	1074	38	1		1	ADCY3	2	25061488	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	16044151	25061488	218137885	23	37874											
SIX3	6496	genome.wustl.edu	37	chr2	45171797	45171797	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggcagagtcgccgtccacGgcggccagcccgaccaccag	7	3	13	18	6	0	1	0	0	0	1	3	2	1	1	6	3	1	1	6	3	0	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:45171797G>A	ENST00000260653.3	+	2	1239	c.897G>A	c.(895-897)acG>acA	p.T299T	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	299					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGCCGTCCACGGCGGCCAGCC	0.697																																																	0													9	11	10					2																	45171797		1976	3947	5923	SO:0001819	synonymous_variant	0			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.897G>A	2.37:g.45171797G>A			D6W5A5|Q53T42	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.T299	ENST00000260653.3	37	c.897	CCDS1821.1	2																																																																																			SIX3	-	NULL	ENSG00000138083		0.697	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1	-	0	33	0	G	NM_005413		45171797	1	tier1	-	no_errors	ENST00000260653	ensembl	human	known	74_37	silent	35.29	11	6	SNP	1.000	A	A	45171797	G	A	45171797	2	1	149	1	0	0	0	0	0	0	0	1	14393	1103	39	1		1	SIX3	2	45171797	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	20110309	45171797	198027576	24	37875											
GFPT1	2673	genome.wustl.edu	37	chr2	69556817	69556817	+	Splice_Site	SNP	A	A	T	1	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	tatatgagtgtctttgtaccAggcagccgtttcaatccaag	10	13	9	9	1	2	1	1	1	1	0	3	1	3	1	3	1	2	3	3	1	5	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:69556817A>T	ENST00000357308.4	-	16	1774	c.1596T>A	c.(1594-1596)ccT>ccA	p.P532P	GFPT1_ENST00000361060.5_Splice_Site_p.P514P	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	532	Isomerase.				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						TCTTTGTACCAGGCAGCCGTT	0.408																																																	0													116	107	110					2																	69556817		2203	4300	6503	SO:0001630	splice_region_variant	0				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.1597+1T>A	2.37:g.69556817A>T			Q53QE6|Q9BXF8	Silent	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.P532	ENST00000357308.4	37	c.1596	CCDS58713.1	2																																																																																			GFPT1	-	tigrfam_GlmS_trans	ENSG00000198380		0.408	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		-	0	39	0	A		Silent	69556817	-1	tier1	-	no_errors	ENST00000357308	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.996	T	T	69556817	A	T	69556817	5	4	149	1	0	0	0	0	0	0	1	0	6371	202	7	5	523	5	GFPT1	2	69556817	Splice_Site	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	24385020	69556817	173642556	25	37876											
HTRA2	27429	genome.wustl.edu	37	chr2	74757387	74757387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccgggcacaactgactgCggtgaccccagataccagga	10	5	11	15	2	0	3	0	2	0	1	1	4	1	4	5	3	3	1	5	3	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:74757387C>T	ENST00000258080.3	+	1	884	c.254C>T	c.(253-255)gCg>gTg	p.A85V	HTRA2_ENST00000352222.3_Missense_Mutation_p.A85V|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	85					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CAACTGACTGCGGTGACCCCA	0.692																																																	0													11	14	13					2																	74757387		2189	4290	6479	SO:0001583	missense	0				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.254C>T	2.37:g.74757387C>T	ENSP00000258080:p.Ala85Val		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.A85V	ENST00000258080.3	37	c.254	CCDS1951.1	2	.	.	.	.	.	.	.	.	.	.	c	0.775	-0.764455	0.02996	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	T;T;T	0.16897	2.31;2.31;2.31	4.17	-2.82	0.05787	.	0.945574	0.08828	N	0.887735	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.002;0.003;0.003;0.002	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.39014	-0.9634	10	0.23302	T	0.38	-0.002	1.297	0.02071	0.2481:0.3378:0.2445:0.1697	.	85;85;85;85	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	V	85;85;72	ENSP00000258080:A85V;ENSP00000312893:A85V;ENSP00000399166:A72V	ENSP00000258080:A85V	A	+	2	0	HTRA2	74610895	0.000000	0.05858	0.000000	0.03702	0.214000	0.24535	-0.154000	0.10130	-0.357000	0.08175	-0.490000	0.04691	GCG	HTRA2	-	NULL	ENSG00000115317		0.692	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA2	HGNC	protein_coding	OTTHUMT00000252219.2		0	53	0	C	NM_013247		74757387	1			no_errors	ENST00000258080	ensembl	human	known	74_37	missense	6.52	42	3	SNP	0.000	T	T	74757387	C	T	74757387	3	4	149	1	0	0	0	0	1	0	0	0	7481	768	27	1	256	1	HTRA2	2	74757387	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	5200570	74757387	168441986	26	37877											
DNAH6	1768	genome.wustl.edu	37	chr2	84930558	84930558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtctcaccaagctactaGaaacaaacatactagtagat	17	9	6	9	0	1	2	1	0	1	2	2	2	1	2	1	1	5	2	1	1	8	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:84930558G>A	ENST00000237449.6	+	49	8109	c.8101G>A	c.(8101-8103)Gaa>Aaa	p.E2701K	DNAH6_ENST00000389394.3_Missense_Mutation_p.E2701K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2701	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(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						CAAGCTACTAGAAACAAACAT	0.338																																																	0													117	102	107					2																	84930558		692	1591	2283	SO:0001583	missense	0			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.8101G>A	2.37:g.84930558G>A	ENSP00000237449:p.Glu2701Lys		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E2701K	ENST00000237449.6	37	c.8101	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143526	0.77888	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.74106	-0.81;-0.81	5.65	4.78	0.61160	Dynein heavy chain, coiled coil stalk (1);	.	.	.	.	D	0.87132	0.6101	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.88625	0.3165	9	0.56958	D	0.05	.	13.5042	0.61476	0.0761:0.0:0.9239:0.0	.	2701	Q9C0G6	DYH6_HUMAN	K	2701	ENSP00000374045:E2701K;ENSP00000237449:E2701K	ENSP00000237449:E2701K	E	+	1	0	DNAH6	84784069	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	6.164000	0.71885	1.391000	0.46566	-0.136000	0.14681	GAA	DNAH6	-	superfamily_P-loop_NTPase	ENSG00000115423		0.338	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2		0	25	0	G	NM_001370		84930558	1			no_errors	ENST00000237449	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	84930558	G	A	84930558	3	1	149	1	0	0	0	0	1	0	0	0	4619	943	33	3	8295	3	DNAH6	2	84930558	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	10173171	84930558	158268815	27	37878											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125192205	125192205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccatggagaaggtcagcGtggagaccacatcaccttgg	10	8	13	10	1	2	2	2	0	0	2	3	4	3	2	3	4	1	1	3	4	1	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:125192205G>A	ENST00000431078.1	+	5	1038	c.674G>A	c.(673-675)cGt>cAt	p.R225H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	225	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAAGGTCAGCGTGGAGACCAC	0.512																																																	0													76	78	77					2																	125192205		2094	4230	6324	SO:0001583	missense	0			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.674G>A	2.37:g.125192205G>A	ENSP00000399013:p.Arg225His		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R225H	ENST00000431078.1	37	c.674	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538270	0.45176	.	.	ENSG00000155052	ENST00000431078	T	0.79033	-1.23	5.48	4.41	0.53225	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48286	D	0.000192	T	0.66127	0.2758	L	0.31207	0.915	0.53688	D	0.999975	B	0.34226	0.443	B	0.31812	0.136	T	0.66085	-0.6011	10	0.33940	T	0.23	.	14.2517	0.66023	0.084:0.0:0.916:0.0	.	225	Q8WYK1	CNTP5_HUMAN	H	225	ENSP00000399013:R225H	ENSP00000399013:R225H	R	+	2	0	CNTNAP5	124908675	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	5.625000	0.67770	2.576000	0.86940	0.655000	0.94253	CGT	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.512	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	29	0	G			125192205	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	50.00	12	12	SNP	0.992	A	A	125192205	G	A	125192205	3	1	149	1	0	0	0	0	1	0	0	0	3657	1145	40	1	692	1	CNTNAP5	2	125192205	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	40261647	125192205	118007168	28	37879											
GALNT13	114805	genome.wustl.edu	37	chr2	155158056	155158056	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaacaggagactggcagaAgtttggatggatgaatttaa	16	9	12	4	0	0	3	0	1	0	2	0	6	0	5	0	4	2	2	0	4	5	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:155158056A>C	ENST00000392825.3	+	9	1677	c.1110A>C	c.(1108-1110)gaA>gaC	p.E370D	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.E370D	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	370					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GACTGGCAGAAGTTTGGATGG	0.393																																																	0													182	181	181					2																	155158056		2203	4300	6503	SO:0001583	missense	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1110A>C	2.37:g.155158056A>C	ENSP00000376570:p.Glu370Asp		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E370D	ENST00000392825.3	37	c.1110	CCDS2199.1	2	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763443	0.69763	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.70986	-0.53;-0.53	5.44	4.29	0.51040	.	0.047372	0.85682	D	0.000000	T	0.71264	0.3319	M	0.85099	2.735	0.80722	D	1	B;B;B;B	0.34290	0.263;0.301;0.447;0.301	B;B;B;B	0.34242	0.172;0.083;0.178;0.083	T	0.72418	-0.4300	10	0.72032	D	0.01	.	8.302	0.32019	0.8302:0.0:0.1698:0.0	.	370;370;370;370	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	D	370	ENSP00000376570:E370D;ENSP00000387239:E370D	ENSP00000376570:E370D	E	+	3	2	GALNT13	154866302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.663000	0.37429	1.012000	0.39366	0.533000	0.62120	GAA	GALNT13	-	NULL	ENSG00000144278		0.393	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	-	0	35	0	A	NM_052917		155158056	1	tier1	-	no_errors	ENST00000409237	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	C	C	155158056	A	C	155158056	3	2	149	1	0	0	0	0	1	0	0	0	6236	69	3	4	1136	4	GALNT13	2	155158056	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	29965851	155158056	88041317	29	37880											
DPP4	1803	genome.wustl.edu	37	chr2	162875300	162875300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacacagaatagtactgacaCctttccggattcagctcaca	13	9	7	12	1	2	2	2	1	0	1	3	4	3	3	2	1	2	2	2	1	3	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:162875300C>T	ENST00000360534.3	-	16	1919	c.1359G>A	c.(1357-1359)agG>agA	p.R453R	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	453					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	AGTACTGACACCTTTCCGGAT	0.458																																																	0													156	141	146					2																	162875300		2203	4300	6503	SO:0001819	synonymous_variant	0			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1359G>A	2.37:g.162875300C>T			Q53TN1	Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.R453	ENST00000360534.3	37	c.1359	CCDS2216.1	2																																																																																			DPP4	-	pfam_Peptidase_S9B	ENSG00000197635		0.458	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	-	0	35	0	C			162875300	-1	tier1	-	no_errors	ENST00000360534	ensembl	human	known	74_37	silent	23.08	20	6	SNP	0.995	T	T	162875300	C	T	162875300	2	4	149	1	0	0	0	0	0	0	0	1	4743	506	18	3		3	DPP4	2	162875300	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	7717244	162875300	80324073	30	37881											
SCN2A	6326	genome.wustl.edu	37	chr2	166201217	166201217	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatgcagctctttggtaaGagctacaaagaatgtgtctg	11	11	12	7	0	2	2	0	0	2	2	2	2	2	2	0	2	4	5	0	2	4	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:166201217G>A	ENST00000375437.2	+	16	3005	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	SCN2A_ENST00000375427.2_Silent_p.K905K|SCN2A_ENST00000357398.3_Silent_p.K905K|SCN2A_ENST00000283256.6_Silent_p.K905K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	905					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)	TCTTTGGTAAGAGCTACAAAG	0.483																																																	0													182	171	175					2																	166201217		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2715G>A	2.37:g.166201217G>A			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.K905	ENST00000375437.2	37	c.2715	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.483	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0	78	0	G	NM_021007		166201217	1	tier1	-	no_errors	ENST00000283256	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.979	A	A	166201217	G	A	166201217	2	1	149	1	0	0	0	0	0	0	0	1	13961	933	33	3		3	SCN2A	2	166201217	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	3325917	166201217	76998156	31	37882											
TTN	7273	genome.wustl.edu	37	chr2	179479651	179479651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcctgtttaaggccttcacgCggtaggcataccatttgcct	7	12	10	12	2	1	0	1	0	0	0	1	0	1	0	4	3	2	3	4	3	3	6	rs368806005		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:179479651C>T	ENST00000591111.1	-	210	43984	c.43760G>A	c.(43759-43761)cGc>cAc	p.R14587H	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R16228H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7163H|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7288H|TTN_ENST00000342992.6_Missense_Mutation_p.R13660H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7355H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14587	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R7355H(1)|p.R7288H(1)|p.R13660H(1)|p.R7163H(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)			GGCCTTCACGCGGTAGGCATA	0.443																																																	4	Substitution - Missense(4)	large_intestine(4)						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3878		0,0,1939	110	100	103		21488,40979,21863,22064	5.6	1	2		103	2,8304		0,2,4151	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,2,6090	TT,TC,CC		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging,probably-damaging	7163/26927,13660/33424,7288/27052,7355/27119	179479651	2,12182	1939	4153	6092	SO:0001583	missense	0			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.43760G>A	2.37:g.179479651C>T	ENSP00000465570:p.Arg14587His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R13660H	ENST00000591111.1	37	c.40979		2	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216852	0.58452	0.0	2.41E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.63	5.63	0.86233	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85256	0.5655	H	0.96576	3.845	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.89496	0.3760	9	0.87932	D	0	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	7163;7288;7355;14587	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	13660;7163;7355;7288;7163	ENSP00000343764:R13660H;ENSP00000434586:R7163H;ENSP00000340554:R7355H;ENSP00000352154:R7288H	ENSP00000340554:R7355H	R	-	2	0	TTN	179187896	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.668000	0.83897	2.805000	0.96524	0.655000	0.94253	CGC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	29	0	C	NM_133378		179479651	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	T	T	179479651	C	T	179479651	3	4	149	1	0	0	0	0	1	0	0	0	16784	768	27	1	59422	1	TTN	2	179479651	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	13278434	179479651	63719722	32	37883											
ALS2CR11	151254	genome.wustl.edu	37	chr2	202436683	202436683	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcacgggatctgttctttCtggaggtggtgcaagattca	7	13	13	8	2	5	1	2	0	3	1	5	3	5	3	0	4	1	2	0	4	1	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:202436683C>A	ENST00000286195.3	-	8	858	c.814G>T	c.(814-816)Gaa>Taa	p.E272*	ALS2CR11_ENST00000439140.1_Nonsense_Mutation_p.E272*|ALS2CR11_ENST00000439802.1_Nonsense_Mutation_p.E272*|ALS2CR11_ENST00000450242.1_Nonsense_Mutation_p.E272*	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	272								p.E272K(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TCTGTTCTTTCTGGAGGTGGT	0.358																																																	1	Substitution - Missense(1)	urinary_tract(1)											129	122	124					2																	202436683		2203	4300	6503	SO:0001587	stop_gained	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.814G>T	2.37:g.202436683C>A	ENSP00000286195:p.Glu272*		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Nonsense_Mutation	SNP	superfamily_C2_dom	p.E272*	ENST00000286195.3	37	c.814	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.520057	0.96416	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	.	.	.	5.49	4.61	0.57282	.	0.211842	0.32868	N	0.005556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.3523	0.32310	0.0:0.8219:0.0:0.178	.	.	.	.	X	272	.	ENSP00000286195:E272X	E	-	1	0	ALS2CR11	202144928	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.716000	0.37981	1.317000	0.45149	0.591000	0.81541	GAA	ALS2CR11	-	NULL	ENSG00000155754		0.358	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2		0	34	0	C	NM_152525		202436683	-1			no_errors	ENST00000286195	ensembl	human	known	74_37	nonsense	9.09	20	2	SNP	1.000	A	A	202436683	C	A	202436683	4	1	149	1	0	0	0	0	0	1	0	0	552	922	32	3	4831	3	ALS2CR11	2	202436683	Nonsense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	22957032	202436683	40762690	33	37884											
ALS2CR4	65062	genome.wustl.edu	37	chr2	202501519	202501519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctttgaacaggagcctctgGgtgctctttgagttctttag	6	16	11	8	0	4	2	0	2	4	0	4	3	4	3	1	2	3	2	1	2	2	5	rs367728637		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:202501519G>T	ENST00000409883.2	-	5	342	c.226C>A	c.(226-228)Cca>Aca	p.P76T	TMEM237_ENST00000409444.2_Missense_Mutation_p.P68T	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	76					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						GGAGCCTCTGGGTGCTCTTTG	0.448																																																	0								G	THR/PRO,THR/PRO	0,3678		0,0,1839	67	62	64		202,226	2.2	0.6	2		64	1,8191		0,1,4095	no	missense,missense	TMEM237	NM_152388.2,NM_001044385.1	38,38	0,1,5934	TT,TG,GG		0.0122,0.0,0.0084	benign,benign	68/401,76/409	202501519	1,11869	1839	4096	5935	SO:0001583	missense	0			AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.226C>A	2.37:g.202501519G>T	ENSP00000386264:p.Pro76Thr		B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	NULL	p.P76T	ENST00000409883.2	37	c.226	CCDS46489.1	2	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585586	0.28268	0.0	1.22E-4	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684	T;T	0.41400	1.0;1.0	5.09	2.18	0.27775	.	0.433247	0.18498	N	0.139434	T	0.33585	0.0868	L	0.51422	1.61	0.23886	N	0.996567	B;B	0.34290	0.447;0.447	B;B	0.32533	0.147;0.147	T	0.12785	-1.0534	9	.	.	.	-0.7048	9.8423	0.41006	0.0731:0.2607:0.6662:0.0	.	76;100	E9PAR8;Q96Q45	.;TM237_HUMAN	T	68;76;76;98	ENSP00000387203:P68T;ENSP00000386264:P76T	.	P	-	1	0	TMEM237	202209764	0.709000	0.27886	0.562000	0.28370	0.706000	0.40770	1.850000	0.39328	0.684000	0.31448	0.650000	0.86243	CCA	TMEM237	-	NULL	ENSG00000155755		0.448	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM237	HGNC	protein_coding	OTTHUMT00000335753.1	-	0	32	0	G	NM_152388		202501519	-1	tier1	-	no_errors	ENST00000409883	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.521	T	T	202501519	G	T	202501519	3	4	149	1	0	0	0	0	1	0	0	0	554	1232	43	3	1036	3	ALS2CR4	2	202501519	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	64836	202501519	40697854	34	37885											
DNAJB2	3300	genome.wustl.edu	37	chr2	220149625	220149625	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccaagatccaggcttgggGgggacccaggagggtgcgag	9	4	18	10	1	0	1	0	0	0	1	1	4	1	3	3	6	1	1	3	6	1	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:220149625G>A	ENST00000336576.5	+	9	1179	c.891G>A	c.(889-891)ggG>ggA	p.G297G	DNAJB2_ENST00000392086.4_Intron	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	297					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)		CAGGCTTGGGGGGGACCCAGG	0.667																																																	0													17	20	19					2																	220149625		2197	4297	6494	SO:0001819	synonymous_variant	0				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.891G>A	2.37:g.220149625G>A			A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Silent	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain	p.G297	ENST00000336576.5	37	c.891	CCDS2439.1	2																																																																																			DNAJB2	-	NULL	ENSG00000135924		0.667	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	DNAJB2	HGNC	protein_coding	OTTHUMT00000256823.2	-	0	47	0	G			220149625	1	tier1	-	no_errors	ENST00000336576	ensembl	human	known	74_37	silent	41.18	20	14	SNP	0.015	A	A	220149625	G	A	220149625	2	1	149	1	0	0	0	0	0	0	0	1	4634	1219	43	3		3	DNAJB2	2	220149625	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	17648106	220149625	23049748	35	37886											
SLC16A14	151473	genome.wustl.edu	37	chr2	230923853	230923853	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggagctgacccaggcGgtcaggccgcggctctggtg	5	6	18	12	3	2	2	1	2	1	0	2	3	2	3	2	6	1	2	2	6	0	0	rs367943492		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:230923853G>T	ENST00000295190.4	-	2	674	c.216C>A	c.(214-216)acC>acA	p.T72T	RNY4P19_ENST00000362530.1_RNA	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	72						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)		TGACCCAGGCGGTCAGGCCGC	0.532																																																	0													73	76	75					2																	230923853		2203	4300	6503	SO:0001819	synonymous_variant	0			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.216C>A	2.37:g.230923853G>T			A8KA08|Q53R92|Q96NI7	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T72	ENST00000295190.4	37	c.216	CCDS2473.1	2																																																																																			SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.532	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2		0	18	0	G	NM_152527		230923853	-1			no_errors	ENST00000295190	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.003	T	T	230923853	G	T	230923853	2	4	149	1	0	0	0	0	0	0	0	1	14452	1103	39	2		2	SLC16A14	2	230923853	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	10774228	230923853	12275520	36	37887											
PER2	8864	genome.wustl.edu	37	chr2	239184491	239184491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccttcagctcctttagtGtttttatcagttctttgtgt	5	20	8	8	0	3	0	2	0	1	0	4	1	4	1	2	1	1	3	2	1	2	8			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr2:239184491G>A	ENST00000254657.3	-	4	620	c.341C>T	c.(340-342)aCa>aTa	p.T114I	PER2_ENST00000440245.1_Missense_Mutation_p.T114I|PER2_ENST00000355768.2_Missense_Mutation_p.T114I|PER2_ENST00000254658.3_Missense_Mutation_p.T114I	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	114					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)		CTCCTTTAGTGTTTTTATCAG	0.517																																																	0													236	221	226					2																	239184491		2203	4300	6503	SO:0001583	missense	0			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.341C>T	2.37:g.239184491G>A	ENSP00000254657:p.Thr114Ile		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.T114I	ENST00000254657.3	37	c.341	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580189	0.46006	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.46063	2.77;0.88;1.9;0.88	4.43	4.43	0.53597	.	0.102148	0.64402	D	0.000003	T	0.58652	0.2137	M	0.70842	2.15	0.45354	D	0.998346	D;D;P;P	0.89917	1.0;0.999;0.845;0.879	D;D;P;P	0.78314	0.989;0.991;0.646;0.766	T	0.58973	-0.7541	10	0.45353	T	0.12	-27.7634	8.7416	0.34560	0.1049:0.0:0.8951:0.0	.	114;114;114;114	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	I	114	ENSP00000254657:T114I;ENSP00000254658:T114I;ENSP00000397516:T114I;ENSP00000348013:T114I	ENSP00000254657:T114I	T	-	2	0	PER2	238849230	1.000000	0.71417	0.282000	0.24776	0.262000	0.26303	6.484000	0.73621	2.194000	0.70268	0.655000	0.94253	ACA	PER2	-	NULL	ENSG00000132326		0.517	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	-	0	58	0	G	NM_022817		239184491	-1	tier1	-	no_errors	ENST00000254657	ensembl	human	known	74_37	missense	26.42	39	14	SNP	0.987	A	A	239184491	G	A	239184491	3	1	149	1	0	0	0	0	1	0	0	0	11769	1377	48	3	3506	3	PER2	2	239184491	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	8260638	239184491	4014882	37	37888											
SRGAP3	9901	genome.wustl.edu	37	chr3	9121758	9121758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcctcgtgcatctgcaggCcaatctccttgctctggaat	6	12	9	14	1	3	0	0	0	3	0	6	1	4	1	3	2	3	4	3	2	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:9121758C>T	ENST00000383836.3	-	4	864	c.437G>A	c.(436-438)gGc>gAc	p.G146D	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.G146D	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	146	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)		CATCTGCAGGCCAATCTCCTT	0.488			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													119	108	112					3																	9121758		2203	4300	6503	SO:0001583	missense	0			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.437G>A	3.37:g.9121758C>T	ENSP00000373347:p.Gly146Asp		Q8IX13|Q8IZV8	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.G146D	ENST00000383836.3	37	c.437	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045896	0.75846	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.15718	2.4;2.4	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.998;0.996;0.992	T	0.38394	-0.9663	10	0.40728	T	0.16	.	13.1026	0.59228	0.0:1.0:0.0:0.0	.	146;15;146;146	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	D	146;146;26	ENSP00000373347:G146D;ENSP00000353587:G146D	ENSP00000353587:G146D	G	-	2	0	SRGAP3	9096758	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.186000	0.65082	2.145000	0.66743	0.467000	0.42956	GGC	SRGAP3	-	NULL	ENSG00000196220		0.488	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3	-	0	30	0	C			9121758	-1	tier1	-	no_errors	ENST00000383836	ensembl	human	known	74_37	missense	20.00	15	4	SNP	1.000	T	T	9121758	C	T	9121758	3	4	149	1	0	0	0	0	1	0	0	0	15194	739	26	3	2973	3	SRGAP3	3	9121758	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09		9121758	188900672	38	37889											
FBLN2	2199	genome.wustl.edu	37	chr3	13670520	13670520	+	Silent	SNP	C	C	T	0	0	0	1	1	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	atctgcgcgcgcggctaccaCgccagcgatgatgggaccaa	9	5	13	14	6	1	1	0	1	1	0	1	3	1	2	3	2	3	1	3	2	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:13670520C>T	ENST00000295760.7	+	11	2613	c.2544C>T	c.(2542-2544)caC>caT	p.H848H	FBLN2_ENST00000535798.1_Silent_p.H874H|FBLN2_ENST00000404922.3_Silent_p.H895H|FBLN2_ENST00000492059.1_Silent_p.H895H	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	848	EGF-like 5; 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)			GCGGCTACCACGCCAGCGATG	0.677																																																	0													33	40	37					3																	13670520		2165	4269	6434	SO:0001819	synonymous_variant	0			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.2544C>T	3.37:g.13670520C>T			B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.H895	ENST00000295760.7	37	c.2685	CCDS46762.1	3																																																																																			FBLN2	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000163520		0.677	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	-	0	79	0	C	NM_001004019		13670520	1	tier1	-	no_errors	ENST00000404922	ensembl	human	known	74_37	silent	23.46	62	19	SNP	0.593	T	T	13670520	C	T	13670520	2	4	149	1	0	0	0	0	0	0	0	1	5721	535	19	1		1	FBLN2	3	13670520	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	4548762	13670520	184351910	39	37890											
SLC6A6	6533	genome.wustl.edu	37	chr3	14485184	14485184	+	Silent	SNP	C	C	T	0	0	0	1	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	cagtgtctgaaagatttccaCaaggacatcctgaagccctc	12	9	8	12	0	1	3	0	2	1	1	4	4	3	4	3	1	1	0	3	1	3	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:14485184C>T	ENST00000454876.2	+	3	371	c.42C>T	c.(40-42)caC>caT	p.H14H	SLC6A6_ENST00000360861.3_Silent_p.H14H|SLC6A6_ENST00000484191.1_Intron|SLC6A6_ENST00000416216.2_Silent_p.H14H			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	14					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						AAGATTTCCACAAGGACATCC	0.562																																																	0													96	91	93					3																	14485184		2203	4300	6503	SO:0001819	synonymous_variant	0				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.42C>T	3.37:g.14485184C>T			B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.H14	ENST00000454876.2	37	c.42	CCDS33705.1	3																																																																																			SLC6A6	-	NULL	ENSG00000131389		0.562	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1	-	0	53	0	C	NM_003043		14485184	1	tier1	-	no_errors	ENST00000360861	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T	T	14485184	C	T	14485184	2	4	149	1	0	0	0	0	0	0	0	1	14733	477	17	3		3	SLC6A6	3	14485184	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	814664	14485184	183537246	40	37891											
SCN11A	11280	genome.wustl.edu	37	chr3	38951598	38951598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcttgggtcatcagccGgaacatggcaagaaaagacc	14	6	12	9	1	3	2	2	0	1	2	3	4	3	4	2	4	2	1	2	4	5	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:38951598G>A	ENST00000302328.3	-	8	1258	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	SCN11A_ENST00000444237.2_Missense_Mutation_p.R354W|SCN11A_ENST00000456224.3_Missense_Mutation_p.R354W|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000450244.1_Missense_Mutation_p.R354W	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	354					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.R354R(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)	GTCATCAGCCGGAACATGGCA	0.408																																																	1	Substitution - coding silent(1)	lung(1)											90	82	85					3																	38951598		2203	4300	6503	SO:0001583	missense	0			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.1060C>T	3.37:g.38951598G>A	ENSP00000307599:p.Arg354Trp		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R354W	ENST00000302328.3	37	c.1060	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979323	0.74360	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.24	4.31	0.51392	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98751	0.9580	M	0.93763	3.455	0.39885	D	0.973686	D	0.89917	1.0	D	0.91635	0.999	D	0.99902	1.1166	10	0.87932	D	0	.	14.2107	0.65762	0.0:0.0:0.8183:0.1816	.	354	Q9UI33	SCNBA_HUMAN	W	354	ENSP00000307599:R354W;ENSP00000400945:R354W;ENSP00000416757:R354W;ENSP00000408028:R354W	ENSP00000307599:R354W	R	-	1	2	SCN11A	38926602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.975000	0.49281	1.040000	0.40099	0.557000	0.71058	CGG	SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.408	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0	29	0	G	NM_014139		38951598	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	A	A	38951598	G	A	38951598	3	1	149	1	0	0	0	0	1	0	0	0	13958	1115	39	1	4391	1	SCN11A	3	38951598	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	24466414	38951598	159070832	41	37892											
CSRNP1	64651	genome.wustl.edu	37	chr3	39184677	39184677	+	Frame_Shift_Del	DEL	C	C	-																															caggaagcaactgctggcatCcccaggtggagacaggccag																										TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:39184677delC	ENST00000273153.5	-	5	1816	c.1639delG	c.(1639-1641)gatfs	p.D547fs	CSRNP1_ENST00000514182.1_Frame_Shift_Del_p.D547fs	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	547					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	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)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CTGCTGGCATCCCCAGGTGGA	0.582																																																	0													53	61	59					3																	39184677		2203	4300	6503	SO:0001589	frameshift_variant	0			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1639delG	3.37:g.39184677delC	ENSP00000273153:p.Asp547fs		Q69YY5	Frame_Shift_Del	DEL	prints_Cys/Ser-rich_nuc_prot	p.D547fs	ENST00000273153.5	37	c.1639	CCDS2682.1	3																																																																																			CSRNP1	-	NULL	ENSG00000144655		0.582	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP1	HGNC	protein_coding	OTTHUMT00000254061.1		0	71	0	C	NM_033027		39184677	-1	tier1		no_errors	ENST00000273153	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.997	-	-	39184677	C	-	39184677	7	5	149	1	0	1	0	1	0	0	0	0	3972	855	30	0	134	0	CSRNP1	3	39184677	Frame_Shift_Del	DEL	C	TCGA-R6-A8W8-01B-11D-A37C-09	233079	39184677	158837753	42	37893											
ZBTB47	92999	genome.wustl.edu	37	chr3	42701321	42701321	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgcgagcgcaacatccagGtgggcctcacgtggctgggg	7	6	16	12	3	1	0	1	0	0	0	2	1	2	0	2	5	3	2	2	5	1	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:42701321G>A	ENST00000232974.6	+	2	1754		c.e2+1		ZBTB47_ENST00000505904.1_Splice_Site|ZBTB47_ENST00000457842.3_Splice_Site			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		CAACATCCAGGTGGGCCTCAC	0.637																																																	0													19	21	20					3																	42701321		2129	4228	6357	SO:0001630	splice_region_variant	0			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1473+1G>A	3.37:g.42701321G>A			H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Splice_Site	SNP	-	e1+1	ENST00000232974.6	37	c.1473+1	CCDS46805.2	3	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561684	0.65538	.	.	ENSG00000114853	ENST00000232974;ENST00000542870;ENST00000457842;ENST00000505904	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9147	0.86148	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZBTB47	42676325	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.652000	0.98499	2.197000	0.70478	0.557000	0.71058	.	ZBTB47	-	-	ENSG00000114853		0.637	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB47	HGNC	protein_coding	OTTHUMT00000343485.3	-	0	80	0	G	NM_145166	Intron	42701321	1	tier1	-	no_errors	ENST00000232974	ensembl	human	known	74_37	splice_site	15.22	39	7	SNP	1.000	A	A	42701321	G	A	42701321	5	1	149	1	0	0	0	0	0	0	1	0	17596	1275	44	3	1476	3	ZBTB47	3	42701321	Splice_Site	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	3516644	42701321	155321109	43	37894											
PROS1	5627	genome.wustl.edu	37	chr3	93605274	93605274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcttaaaaaggggtccaGgtttatttatatccatcaca	12	12	8	9	1	1	0	1	0	0	0	3	0	3	0	3	4	0	2	3	4	6	6	rs199469495		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:93605274G>T	ENST00000394236.3	-	11	1545	c.1229C>A	c.(1228-1230)cCt>cAt	p.P410H	PROS1_ENST00000407433.1_Missense_Mutation_p.P279H	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	410	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AAGGGGTCCAGGTTTATTTAT	0.353																																																	0													139	153	148					3																	93605274		2203	4300	6503	SO:0001583	missense	0				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1229C>A	3.37:g.93605274G>T	ENSP00000377783:p.Pro410His		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.P410H	ENST00000394236.3	37	c.1229	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959683	0.53400	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78364	-1.17;-1.17	3.42	1.57	0.23409	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.121609	0.56097	U	0.000026	D	0.82495	0.5049	M	0.76838	2.35	0.47778	D	0.999516	P	0.43885	0.82	P	0.54499	0.754	T	0.80246	-0.1462	10	0.62326	D	0.03	.	8.3152	0.32095	0.2012:0.0:0.7988:0.0	.	410	P07225	PROS_HUMAN	H	410;279	ENSP00000377783:P410H;ENSP00000385794:P279H	ENSP00000377783:P410H	P	-	2	0	PROS1	95087964	1.000000	0.71417	0.958000	0.39756	0.974000	0.67602	3.989000	0.56958	0.149000	0.19098	-0.137000	0.14449	CCT	PROS1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000184500		0.353	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	-	0	57	0	G	NM_000313		93605274	-1	tier1	rs199469495	no_errors	ENST00000394236	ensembl	human	known	74_37	missense	41.86	25	18	SNP	0.995	T	T	93605274	G	T	93605274	3	4	149	1	0	0	0	0	1	0	0	0	12600	1000	35	3	821	3	PROS1	3	93605274	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	50903953	93605274	104417156	44	37895											
KIAA2018	205717	genome.wustl.edu	37	chr3	113376139	113376139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctgctttatgtagagat	4	15	12	10	0	0	1	0	0	0	1	0	2	0	1	0	0	9	10	0	0	2	3	rs201212461		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:113376139G>T	ENST00000478658.1	-	5	4407	c.4390C>A	c.(4390-4392)Cag>Aag	p.Q1464K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q1464K			Q68DE3	K2018_HUMAN	KIAA2018	1464	Gln-rich.			Missing (in Ref. 2; CAH18277). {ECO:0000305}.		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						tgctgctgctgctgctgctTT	0.498																																																	0													57	64	62					3																	113376139		2179	4278	6457	SO:0001583	missense	0			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.4390C>A	3.37:g.113376139G>T	ENSP00000420721:p.Gln1464Lys		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Q1464K	ENST00000478658.1	37	c.4390	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592743	0.28357	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.18810	2.19;2.19	.	.	.	.	.	.	.	.	T	0.12689	0.0308	L	0.29908	0.895	0.25370	N	0.988702	B	0.26041	0.14	B	0.22880	0.042	T	0.30031	-0.9992	7	0.29301	T	0.29	-4.7877	.	.	.	.	1464	Q68DE3	K2018_HUMAN	K	1464	ENSP00000320794:Q1464K;ENSP00000420721:Q1464K	ENSP00000320794:Q1464K	Q	-	1	0	KIAA2018	114858829	0.996000	0.38824	0.890000	0.34922	0.636000	0.38137	0.000000	0.12993	0.151000	0.19162	0.154000	0.16183	CAG	KIAA2018	-	NULL	ENSG00000176542		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0	31	0	G	NM_001009899		113376139	-1			no_errors	ENST00000316407	ensembl	human	known	74_37	missense	26.32	14	5	SNP	0.962	T	T	113376139	G	T	113376139	3	4	149	1	0	0	0	0	1	0	0	0	8295	1328	46	3	2351	3	KIAA2018	3	113376139	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	19770865	113376139	84646291	45	37896											
GOLGB1	2804	genome.wustl.edu	37	chr3	121417605	121417605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgatctgcttcctcagcccTttttccctggagctgtaatt	6	16	7	12	0	2	1	1	1	1	0	4	2	4	2	3	1	3	3	3	1	1	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:121417605T>C	ENST00000340645.5	-	13	1875	c.1750A>G	c.(1750-1752)Agg>Ggg	p.R584G	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R589G	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	584					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)	p.R584G(1)		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)		TCCTCAGCCCTTTTTCCCTGG	0.363																																																	1	Substitution - Missense(1)	prostate(1)											82	85	84					3																	121417605		2203	4300	6503	SO:0001583	missense	0			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.1750A>G	3.37:g.121417605T>C	ENSP00000341848:p.Arg584Gly		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.R584G	ENST00000340645.5	37	c.1750	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	T	5.981	0.364872	0.11296	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.23348	2.49;2.49;1.91	5.43	4.25	0.50352	.	0.457306	0.22595	N	0.058022	T	0.25901	0.0631	L	0.57536	1.79	0.09310	N	1	P;P;P;P;B	0.39480	0.493;0.675;0.675;0.675;0.287	B;B;B;B;B	0.39379	0.079;0.298;0.154;0.154;0.053	T	0.09530	-1.0670	10	0.35671	T	0.21	.	9.7072	0.40222	0.0:0.0:0.339:0.661	.	509;548;589;589;584	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	G	584;589;548;396	ENSP00000341848:R584G;ENSP00000377275:R589G;ENSP00000418231:R548G	ENSP00000341848:R584G	R	-	1	2	GOLGB1	122900295	0.528000	0.26314	0.695000	0.30226	0.589000	0.36550	1.134000	0.31442	1.033000	0.39918	0.533000	0.62120	AGG	GOLGB1	-	NULL	ENSG00000173230		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1		0	18	0	T	NM_004487		121417605	-1			no_errors	ENST00000340645	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.177	C	C	121417605	T	C	121417605	3	2	149	1	0	0	0	0	1	0	0	0	6591	1608	56	4	8069	4	GOLGB1	3	121417605	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	8041466	121417605	76604825	46	37897											
TRIM42	287015	genome.wustl.edu	37	chr3	140401781	140401781	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactcggatgtggccatgcaAgaccacgtctttgtggacac	9	9	11	12	2	1	1	0	0	1	1	2	3	1	3	2	3	1	1	2	3	1	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr3:140401781A>G	ENST00000286349.3	+	2	1010	c.819A>G	c.(817-819)caA>caG	p.Q273Q		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	273						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						TGGCCATGCAAGACCACGTCT	0.582																																																	0													147	127	133					3																	140401781		2203	4300	6503	SO:0001819	synonymous_variant	0			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.819A>G	3.37:g.140401781A>G			A1L4B4|Q8N832|Q8NDL3	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q273	ENST00000286349.3	37	c.819	CCDS3113.1	3																																																																																			TRIM42	-	smart_Znf_B-box	ENSG00000155890		0.582	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	-	0	38	0	A	NM_152616		140401781	1	tier1	-	no_errors	ENST00000286349	ensembl	human	known	74_37	silent	23.08	20	6	SNP	1.000	G	G	140401781	A	G	140401781	2	3	149	1	0	0	0	0	0	0	0	1	16565	69	3	4		4	TRIM42	3	140401781	Silent	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	18984176	140401781	57620649	47	37898											
PDCL2	132954	genome.wustl.edu	37	chr4	56428612	56428612	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccacattctataattccaAtgaatttggcttctatctga	11	16	4	10	0	3	2	0	2	3	0	5	2	5	2	2	1	0	1	2	1	5	7			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr4:56428612A>T	ENST00000295645.4	-	5	632	c.530T>A	c.(529-531)aTt>aAt	p.I177N		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	177	Thioredoxin fold. {ECO:0000250}.									endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TATAATTCCAATGAATTTGGC	0.313																																																	0													76	72	73					4																	56428612		1803	4071	5874	SO:0001583	missense	0			BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.530T>A	4.37:g.56428612A>T	ENSP00000295645:p.Ile177Asn		A8MWA2|B9ZVQ9	Missense_Mutation	SNP	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold	p.I177N	ENST00000295645.4	37	c.530	CCDS47059.1	4	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052179	0.75960	.	.	ENSG00000163440	ENST00000295645	T	0.53857	0.6	5.85	4.65	0.58169	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000002	T	0.72550	0.3474	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77056	-0.2729	10	0.87932	D	0	-31.8886	12.1691	0.54148	0.932:0.0:0.068:0.0	.	177	Q8N4E4	PDCL2_HUMAN	N	177	ENSP00000295645:I177N	ENSP00000295645:I177N	I	-	2	0	PDCL2	56123369	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.644000	0.67902	2.235000	0.73313	0.402000	0.26972	ATT	PDCL2	-	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold	ENSG00000163440		0.313	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCL2	HGNC	protein_coding	OTTHUMT00000361659.1	-	0	32	0	A	NM_152401		56428612	-1	tier1	-	no_errors	ENST00000295645	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	56428612	A	T	56428612	3	4	149	1	0	0	0	0	1	0	0	0	11666	101	4	5	203	5	PDCL2	4	56428612	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09		56428612	134725664	48	37899											
PRSS48	345062	genome.wustl.edu	37	chr4	152201018	152201018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgcagggcgctggccttgGcaggtcagcctacactttga	6	9	14	12	1	1	1	1	1	0	0	1	1	1	1	2	4	3	4	2	4	1	3	rs148861921|rs77216366	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr4:152201018G>T	ENST00000455694.2	+	2	125	c.123G>T	c.(121-123)tgG>tgT	p.W41C	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	41	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GCTGGCCTTGGCAGGTCAGCC	0.532																																																	0													120	109	113					4																	152201018		2010	4172	6182	SO:0001583	missense	0			BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"Serine peptidases / Serine peptidases"	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.123G>T	4.37:g.152201018G>T	ENSP00000401328:p.Trp41Cys		Q08E82|Q0VAD4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.W41C	ENST00000455694.2	37	c.123	CCDS47145.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.45|15.45	2.836560|2.836560	0.50951|0.50951	.|.	.|.	ENSG00000189099|ENSG00000189099	ENST00000530477|ENST00000455694	.|T	.|0.50001	.|0.76	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.000000	.|0.30920	.|N	.|0.008611	T|T	0.81513|0.81513	0.4838|0.4838	H|H	0.98965|0.98965	4.385|4.385	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.88620|0.88620	0.3162|0.3162	5|10	.|0.87932	.|D	.|0	.|.	16.2008|16.2008	0.82071|0.82071	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|41	.|Q7RTY5	.|PRS48_HUMAN	V|C	24|41	.|ENSP00000401328:W41C	.|ENSP00000401328:W41C	G|W	+|+	2|3	0|0	PRSS48|PRSS48	152420468|152420468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.426000|0.426000	0.31534|0.31534	8.605000|8.605000	0.90883|0.90883	2.774000|2.774000	0.95407|0.95407	0.585000|0.585000	0.79938|0.79938	GGC|TGG	PRSS48	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000189099		0.532	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS48	HGNC	protein_coding	OTTHUMT00000365685.3		0	26	0	G	NM_183375		152201018	1			no_errors	ENST00000455694	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	T	T	152201018	G	T	152201018	3	4	149	1	0	0	0	0	1	0	0	0	12672	1212	42	3	129	3	PRSS48	4	152201018	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	95772406	152201018	38953258	49	37900											
ODZ3	55714	genome.wustl.edu	37	chr4	183267981	183267981	+	Frame_Shift_Del	DEL	G	G	-																															tgccatgagactttggggcaGgggggtcaaatcaggccgca																										TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr4:183267981delG	ENST00000511685.1	+	3	533	c.410delG	c.(409-411)aggfs	p.R137fs	TENM3_ENST00000406950.2_Frame_Shift_Del_p.R137fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	137	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)										CTTTGGGGCAGGGGGGTCAAA	0.547																																																	0													49	54	53					4																	183267981		2013	4183	6196	SO:0001589	frameshift_variant	0			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.410delG	4.37:g.183267981delG	ENSP00000424226:p.Arg137fs		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Del	DEL	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V139fs	ENST00000511685.1	37	c.410	CCDS47165.1	4																																																																																			TENM3	-	pfam_Ten_N	ENSG00000218336		0.547	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1		0	58	0	G			183267981	1	tier1		no_errors	ENST00000406950	ensembl	human	known	74_37	frame_shift_del	53.85	6	7	DEL	1.000	-	-	183267981	G	-	183267981	7	5	149	1	0	1	0	1	0	0	0	0	10875	1000	35	0	416	0	ODZ3	4	183267981	Frame_Shift_Del	DEL	G	TCGA-R6-A8W8-01B-11D-A37C-09	31066963	183267981	7886295	50	37901	135	2									
ODZ3	55714	genome.wustl.edu	37	chr4	183267987	183267987	+	Missense_Mutation	SNP	T	T	C																															gagactttggggcaggggggTcaaatcaggccgcagctcct																										TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr4:183267987T>C	ENST00000511685.1	+	3	539	c.416T>C	c.(415-417)gTc>gCc	p.V139A	TENM3_ENST00000406950.2_Missense_Mutation_p.V139A			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	139	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)										GGCAGGGGGGTCAAATCAGGC	0.537																																																	0													54	59	57					4																	183267987		2020	4187	6207	SO:0001583	missense	0			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.416T>C	4.37:g.183267987T>C	ENSP00000424226:p.Val139Ala		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V139A	ENST00000511685.1	37	c.416	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557101	0.27827	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.30714	1.52;1.52;1.52	4.88	4.88	0.63580	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.22205	0.0535	N	0.22421	0.69	0.32630	N	0.522135	B;B	0.23249	0.082;0.001	B;B	0.24006	0.05;0.003	T	0.17471	-1.0368	9	0.17832	T	0.49	.	14.6602	0.68865	0.0:0.0:0.0:1.0	.	139;139	D6RGC5;Q9P273	.;TEN3_HUMAN	A	139	ENSP00000421320:V139A;ENSP00000424226:V139A;ENSP00000385276:V139A	ENSP00000385276:V139A	V	+	2	0	ODZ3	183504981	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.967000	0.56802	2.047000	0.60756	0.460000	0.39030	GTC	TENM3	-	pfam_Ten_N	ENSG00000218336		0.537	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0	52	0	T			183267987	1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	72.73	3	8	SNP	1.000	C	C	183267987	T	C	183267987	3	2	149	1	0	0	0	0	1	0	0	0	10875	1667	58	4	422	4	ODZ3	4	183267987	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	6	183267987	7886289	51	37902	135	2									
LRRC14B	389257	genome.wustl.edu	37	chr5	195433	195433	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctttcaaaactgctctaGaaaacttctccagagcactc	14	10	5	12	0	3	2	1	0	2	2	5	2	3	2	1	0	5	3	1	0	6	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:195433G>T	ENST00000328278.3	+	2	1538	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	504								p.E516Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						AACTGCTCTAGAAAACTTCTC	0.478																																																	1	Substitution - Missense(1)	lung(1)											42	42	42					5																	195433		1933	4147	6080	SO:0001587	stop_gained	0				CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1510G>T	5.37:g.195433G>T	ENSP00000327675:p.Glu504*			Nonsense_Mutation	SNP	NULL	p.E504*	ENST00000328278.3	37	c.1510	CCDS47184.1	5	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477230	0.63849	.	.	ENSG00000185028	ENST00000328278	.	.	.	5.43	5.43	0.79202	.	0.178222	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.733	0.85440	0.0:0.0:1.0:0.0	.	.	.	.	X	504	.	ENSP00000327675:E504X	E	+	1	0	LRRC14B	248433	1.000000	0.71417	0.919000	0.36401	0.056000	0.15407	3.949000	0.56668	2.565000	0.86533	0.561000	0.74099	GAA	LRRC14B	-	NULL	ENSG00000185028		0.478	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC14B	HGNC	protein_coding	OTTHUMT00000365393.2		0	43	0	G	NM_001080478		195433	1			no_errors	ENST00000328278	ensembl	human	novel	74_37	nonsense	5.88	32	2	SNP	0.997	T	T	195433	G	T	195433	4	4	149	1	0	0	0	0	0	1	0	0	9004	943	33	3	1516	3	LRRC14B	5	195433	Nonsense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09		195433	180719827	52	37903											
AHRR	57491	genome.wustl.edu	37	chr5	428102	428102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaacccagagcagacaccGcagccaccgcggatgcaaag	15	1	10	15	3	0	2	0	0	0	2	0	3	0	3	4	1	4	3	4	1	3	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:428102G>A	ENST00000505113.1	+	8	945	c.901G>A	c.(901-903)Gca>Aca	p.A301T	AHRR_ENST00000316418.5_Missense_Mutation_p.A319T|AHRR_ENST00000512529.1_Missense_Mutation_p.A147T|AHRR_ENST00000506456.1_Missense_Mutation_p.A157T	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	301					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)			AGCAGACACCGCAGCCACCGC	0.602																																																	0													22	27	25					5																	428102		2043	4189	6232	SO:0001583	missense	0			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.901G>A	5.37:g.428102G>A	ENSP00000424601:p.Ala301Thr		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.A319T	ENST00000505113.1	37	c.955	CCDS56355.1	5	.	.	.	.	.	.	.	.	.	.	g	5.706	0.314788	0.10789	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.46063	2.26;2.25;1.94;1.93;0.88	4.51	1.54	0.23209	.	1.733350	0.04084	U	0.310165	T	0.14743	0.0356	N	0.03891	-0.335	0.09310	N	1	B;B;B	0.32781	0.164;0.384;0.163	B;B;B	0.24974	0.026;0.057;0.032	T	0.17048	-1.0382	10	0.02654	T	1	.	2.2575	0.04059	0.1138:0.1562:0.492:0.238	.	157;301;319	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	T	301;319;147;157;24	ENSP00000424601:A301T;ENSP00000323816:A319T;ENSP00000424880:A147T;ENSP00000426932:A157T;ENSP00000426076:A24T	ENSP00000323816:A319T	A	+	1	0	AHRR	481102	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.136000	0.15974	-0.016000	0.14127	-0.394000	0.06481	GCA	AHRR	-	NULL	ENSG00000063438		0.602	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1		0	34	0	G	NM_020731		428102	1			no_errors	ENST00000316418	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	A	A	428102	G	A	428102	3	1	149	1	0	0	0	0	1	0	0	0	417	1087	38	1	989	1	AHRR	5	428102	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	232669	428102	180487158	53	37904											
FASTKD3	79072	genome.wustl.edu	37	chr5	7867768	7867768	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcccttgatcaccatcCtttttttccacttcacaaat	9	14	4	14	0	2	1	2	1	0	0	4	1	4	1	4	1	1	1	4	1	1	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:7867768C>T	ENST00000264669.5	-	2	565	c.429G>A	c.(427-429)aaG>aaA	p.K143K	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	143					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						GATCACCATCCTTTTTTTCCA	0.418																																																	0													67	62	64					5																	7867768		2203	4300	6503	SO:0001819	synonymous_variant	0			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.429G>A	5.37:g.7867768C>T			Q9BVD3	Silent	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.K143	ENST00000264669.5	37	c.429	CCDS3873.1	5																																																																																			FASTKD3	-	NULL	ENSG00000124279		0.418	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD3	HGNC	protein_coding	OTTHUMT00000253673.1	-	0	23	0	C	NM_024091		7867768	-1	tier1	-	no_errors	ENST00000264669	ensembl	human	known	74_37	silent	60.00	8	12	SNP	0.000	T	T	7867768	C	T	7867768	2	4	149	1	0	0	0	0	0	0	0	1	5709	680	24	3		3	FASTKD3	5	7867768	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	7439666	7867768	173047492	54	37905											
SEMA5A	9037	genome.wustl.edu	37	chr5	9337859	9337859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttctttctgtcctgggtCaaatgttaactgcgagaaat	11	14	9	7	1	3	1	1	0	2	1	4	2	4	1	1	1	2	2	1	1	4	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:9337859C>T	ENST00000382496.5	-	4	855	c.190G>A	c.(190-192)Gac>Aac	p.D64N		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	64	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGTCCTGGGTCAAATGTTAAC	0.363																																																	0													91	87	88					5																	9337859		2203	4300	6503	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.190G>A	5.37:g.9337859C>T	ENSP00000371936:p.Asp64Asn		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.D64N	ENST00000382496.5	37	c.190	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353401	0.82243	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	T;T	0.26810	1.71;1.71	5.21	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.84585	2.705	0.51233	D	0.999919	D	0.89917	1.0	D	0.85130	0.997	T	0.61192	-0.7112	10	0.72032	D	0.01	.	14.6252	0.68616	0.0:1.0:0.0:0.0	.	64	Q13591	SEM5A_HUMAN	N	64	ENSP00000371936:D64N;ENSP00000421961:D64N	ENSP00000371936:D64N	D	-	1	0	SEMA5A	9390859	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.413000	0.66399	2.600000	0.87896	0.655000	0.94253	GAC	SEMA5A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000112902		0.363	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	-	0	40	0	C			9337859	-1	tier1	-	no_errors	ENST00000382496	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	T	T	9337859	C	T	9337859	3	4	149	1	0	0	0	0	1	0	0	0	14082	826	29	3	3114	3	SEMA5A	5	9337859	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	1470091	9337859	171577401	55	37906											
CCT5	22948	genome.wustl.edu	37	chr5	10262705	10262705	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgctgagatatcctgtgcccTggcagttagccaagaggcgg	8	9	14	10	1	0	2	0	1	0	2	1	3	1	2	3	3	3	3	3	3	3	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:10262705T>C	ENST00000280326.4	+	9	1712	c.1292T>C	c.(1291-1293)cTg>cCg	p.L431P	CCT5_ENST00000503026.1_Missense_Mutation_p.L410P|CCT5_ENST00000515676.1_Missense_Mutation_p.L393P|CCT5_ENST00000515390.1_Missense_Mutation_p.L376P|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000506600.1_Missense_Mutation_p.L338P	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	431					'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						TCCTGTGCCCTGGCAGTTAGC	0.542																																																	0													158	131	140					5																	10262705		2203	4300	6503	SO:0001583	missense	0			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.1292T>C	5.37:g.10262705T>C	ENSP00000280326:p.Leu431Pro		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.L431P	ENST00000280326.4	37	c.1292	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628308	0.87560	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.91747	0.7390	H	0.96720	3.87	0.80722	D	1	P;P;D;D;D	0.61697	0.889;0.944;0.99;0.99;0.99	D;D;D;D;D	0.77557	0.925;0.963;0.99;0.99;0.99	D	0.94213	0.7460	10	0.72032	D	0.01	-17.9864	14.4046	0.67073	0.0:0.0:0.0:1.0	.	338;376;429;431;431	B4DYD8;E7ENZ3;Q9BU08;A8K2X8;P48643	.;.;.;.;TCPE_HUMAN	P	431;410;376;404;393;338	ENSP00000280326:L431P;ENSP00000423318:L410P;ENSP00000426923:L376P;ENSP00000427297:L393P;ENSP00000423052:L338P	ENSP00000280326:L431P	L	+	2	0	CCT5	10315705	1.000000	0.71417	0.802000	0.32245	0.982000	0.71751	7.587000	0.82613	2.045000	0.60652	0.456000	0.33151	CTG	CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi	ENSG00000150753		0.542	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2		0	55	0	T			10262705	1			no_errors	ENST00000280326	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.997	C	C	10262705	T	C	10262705	3	2	149	1	0	0	0	0	1	0	0	0	2963	1580	55	4	1326	4	CCT5	5	10262705	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	924846	10262705	170652555	56	37907											
CTNND2	1501	genome.wustl.edu	37	chr5	11023020	11023020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgtgtcatccgacatggCcttgcttgcagtgttgttgc	5	14	11	11	1	1	0	1	0	0	0	2	1	2	0	2	1	3	4	2	1	0	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:11023020C>A	ENST00000304623.8	-	17	3049	c.2860G>T	c.(2860-2862)Gcc>Tcc	p.A954S	CTNND2_ENST00000458100.2_Missense_Mutation_p.A521S|CTNND2_ENST00000503622.1_Missense_Mutation_p.A617S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A896S|CTNND2_ENST00000511377.1_Missense_Mutation_p.A863S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	954					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCCGACATGGCCTTGCTTGCA	0.512																																																	0													223	166	186					5																	11023020		2203	4300	6503	SO:0001583	missense	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2860G>T	5.37:g.11023020C>A	ENSP00000307134:p.Ala954Ser		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A954S	ENST00000304623.8	37	c.2860	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308900	0.23821	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.77098	-0.93;-0.99;-0.94;-1.07;-1.06	5.64	3.87	0.44632	Armadillo-like helical (1);Armadillo-type fold (1);	0.246987	0.41605	D	0.000846	T	0.62380	0.2423	N	0.20807	0.61	0.42538	D	0.993065	B;B;B	0.12013	0.005;0.005;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.53947	-0.8366	10	0.27082	T	0.32	-10.9711	11.6881	0.51499	0.0:0.8587:0.0:0.1413	.	617;546;954	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	S	954;896;863;49;521;617	ENSP00000307134:A954S;ENSP00000352661:A896S;ENSP00000426510:A863S;ENSP00000391155:A521S;ENSP00000426887:A617S	ENSP00000307134:A954S	A	-	1	0	CTNND2	11076020	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.603000	0.36794	0.755000	0.32990	0.655000	0.94253	GCC	CTNND2	-	superfamily_ARM-type_fold	ENSG00000169862		0.512	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	-	0	93	0	C	NM_001332		11023020	-1	tier1	-	no_errors	ENST00000304623	ensembl	human	known	74_37	missense	51.28	19	20	SNP	1.000	A	A	11023020	C	A	11023020	3	1	149	1	0	0	0	0	1	0	0	0	4029	739	26	3	841	3	CTNND2	5	11023020	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	760315	11023020	169892240	57	37908											
ZNF131	7690	genome.wustl.edu	37	chr5	43175102	43175102	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ccaagaggagagagagtctaGccaagcagatgctgctgagg	13	5	15	8	0	1	5	0	1	1	4	1	7	1	5	2	2	4	3	2	2	3	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:43175102G>A	ENST00000399534.1	+	7	1783	c.1739G>A	c.(1738-1740)aGc>aAc	p.S580N	ZNF131_ENST00000306938.4_Missense_Mutation_p.S546N|ZNF131_ENST00000509634.1_Missense_Mutation_p.S546N|ZNF131_ENST00000505606.2_Missense_Mutation_p.S546N|ZNF131_ENST00000509156.1_Missense_Mutation_p.S580N|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	580					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGAGAGTCTAGCCAAGCAGAT	0.483																																																	0													73	71	72					5																	43175102		1977	4162	6139	SO:0001583	missense	0			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1739G>A	5.37:g.43175102G>A	ENSP00000382450:p.Ser580Asn		B4DRL3|Q6PIF0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S580N	ENST00000399534.1	37	c.1739		5	.	.	.	.	.	.	.	.	.	.	G	5.052	0.195183	0.09599	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	5.48	-3.86	0.04230	.	1.180830	0.05845	N	0.619992	T	0.49575	0.1565	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	0.30534	-0.9975	10	0.19147	T	0.46	-0.0785	7.7793	0.29056	0.2724:0.4241:0.3034:0.0	.	580;546	P52739;P52739-2	ZN131_HUMAN;.	N	580;546;580;546;546	ENSP00000426504:S580N;ENSP00000305804:S546N;ENSP00000382450:S580N;ENSP00000423945:S546N;ENSP00000421246:S546N	ENSP00000305804:S546N	S	+	2	0	ZNF131	43210859	0.001000	0.12720	0.042000	0.18584	0.853000	0.48598	-0.371000	0.07513	-0.391000	0.07763	0.467000	0.42956	AGC	ZNF131	-	NULL	ENSG00000172262		0.483	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	ZNF131	HGNC	protein_coding	OTTHUMT00000367982.1	-	0	18	0	G	NM_003432		43175102	1	tier1	-	no_errors	ENST00000399534	ensembl	human	known	74_37	missense	35.71	9	5	SNP	0.006	A	A	43175102	G	A	43175102	3	1	149	1	0	0	0	0	1	0	0	0	17769	971	34	3	1663	3	ZNF131	5	43175102	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	32152082	43175102	137740158	58	37909											
AP3B1	8546	genome.wustl.edu	37	chr5	77477332	77477332	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataaggattttaacataccGcagcattcctgctctgaagc	12	12	7	10	1	1	1	0	1	1	0	2	2	2	2	2	1	5	3	2	1	5	6			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:77477332G>A	ENST00000255194.6	-	8	1116	c.941C>T	c.(940-942)gCg>gTg	p.A314V	AP3B1_ENST00000519295.1_Splice_Site_p.A265V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	314					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)		TTAACATACCGCAGCATTCCT	0.333									Hermansky-Pudlak syndrome																																								0													84	83	84					5																	77477332		2203	4300	6503	SO:0001630	splice_region_variant	0	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.942+1C>T	5.37:g.77477332G>A			E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.A314V	ENST00000255194.6	37	c.941	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.434769	0.96150	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.30714	1.52;1.52	5.93	5.93	0.95920	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.71467	-0.4584	10	0.87932	D	0	-11.9365	20.3368	0.98748	0.0:0.0:1.0:0.0	.	314	O00203	AP3B1_HUMAN	V	314;265;314;218	ENSP00000255194:A314V;ENSP00000430597:A265V	ENSP00000255194:A314V	A	-	2	0	AP3B1	77513088	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.412000	0.97347	2.805000	0.96524	0.655000	0.94253	GCG	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000132842		0.333	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2		0	27	0	G		Missense_Mutation	77477332	-1			no_errors	ENST00000255194	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	A	A	77477332	G	A	77477332	5	1	149	1	0	0	0	0	0	0	1	0	744	1101	38	1	2423	1	AP3B1	5	77477332	Splice_Site	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	34302230	77477332	103437928	59	37910											
P4HA2	8974	genome.wustl.edu	37	chr5	131546091	131546091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtggtggcctcctcccCggcatcaagctgctttagca	5	11	12	13	1	1	0	1	0	0	0	3	0	3	0	4	4	3	5	4	4	2	3	rs201291968		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:131546091C>T	ENST00000401867.1	-	7	1163	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	P4HA2_ENST00000166534.4_Missense_Mutation_p.G199R|P4HA2_ENST00000379104.2_Missense_Mutation_p.G199R|P4HA2_ENST00000379086.1_Missense_Mutation_p.G199R|P4HA2_ENST00000379100.2_Missense_Mutation_p.G199R|P4HA2_ENST00000360568.3_Missense_Mutation_p.G199R			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	199					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.G199W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GCCTCCTCCCCGGCATCAAGC	0.577																																					Esophageal Squamous(68;117 1135 17362 19256 34242)												1	Substitution - Missense(1)	lung(1)											210	191	197					5																	131546091		2203	4300	6503	SO:0001583	missense	0			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.595G>A	5.37:g.131546091C>T	ENSP00000384999:p.Gly199Arg		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G199R	ENST00000401867.1	37	c.595	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896760	0.91962	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054	T;T;T;T;T;T	0.46451	0.88;0.87;0.88;0.87;0.88;0.87	5.92	5.03	0.67393	Tetratricopeptide-like helical (1);	0.090828	0.85682	N	0.000000	T	0.71558	0.3354	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.78892	-0.2025	10	0.62326	D	0.03	-11.3074	16.8976	0.86104	0.0:0.8719:0.1281:0.0	.	199;199	O15460;O15460-2	P4HA2_HUMAN;.	R	199;199;199;199;199;199;199;231	ENSP00000384999:G199R;ENSP00000368379:G199R;ENSP00000166534:G199R;ENSP00000353772:G199R;ENSP00000368398:G199R;ENSP00000368394:G199R	ENSP00000166534:G199R	G	-	1	0	P4HA2	131573990	1.000000	0.71417	0.995000	0.50966	0.860000	0.49131	7.776000	0.85560	1.452000	0.47756	0.467000	0.42956	GGG	P4HA2	-	NULL	ENSG00000072682		0.577	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4		0	23	0	C	NM_004199		131546091	-1			no_errors	ENST00000166534	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	131546091	C	T	131546091	3	4	149	1	0	0	0	0	1	0	0	0	11396	652	23	1	1116	1	P4HA2	5	131546091	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	54068759	131546091	49369169	60	37911											
SLC22A4	6583	genome.wustl.edu	37	chr5	131630483	131630483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgccggacgccgcgaacctGagcagcgcctggcgcaacaa	9	3	14	15	6	0	1	0	1	0	0	0	3	0	2	4	2	5	2	4	2	3	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:131630483G>A	ENST00000200652.3	+	1	348	c.174G>A	c.(172-174)ctG>ctA	p.L58L	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	58					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.L58L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	CCGCGAACCTGAGCAGCGCCT	0.682																																																	1	Substitution - coding silent(1)	lung(1)											29	35	33					5																	131630483		2203	4299	6502	SO:0001819	synonymous_variant	0			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.174G>A	5.37:g.131630483G>A			O14546	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.L58	ENST00000200652.3	37	c.174	CCDS4153.1	5																																																																																			SLC22A4	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Orgcat_transp	ENSG00000197208		0.682	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A4	HGNC	protein_coding	OTTHUMT00000132661.1		0	27	0	G	NM_003059		131630483	1			no_errors	ENST00000200652	ensembl	human	known	74_37	silent	10.00	18	2	SNP	1.000	A	A	131630483	G	A	131630483	2	1	149	1	0	0	0	0	0	0	0	1	14501	1277	45	3		3	SLC22A4	5	131630483	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	84392	131630483	49284777	61	37912											
PCDHA7	56141	genome.wustl.edu	37	chr5	140215322	140215322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgacgtgaacgacaacGccccggcgttcgcgcagccc	7	4	13	17	8	0	1	0	1	0	0	1	3	0	1	4	2	3	2	4	2	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:140215322G>A	ENST00000525929.1	+	1	1354	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	PCDHA7_ENST00000378125.3_Missense_Mutation_p.A452T|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A452T(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCCCCGGCGTT	0.677																																					NSCLC(160;258 2013 5070 22440 28951)												2	Substitution - Missense(2)	biliary_tract(2)											64	68	66					5																	140215322		2203	4298	6501	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1354G>A	5.37:g.140215322G>A	ENSP00000436426:p.Ala452Thr		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A452T	ENST00000525929.1	37	c.1354	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109955	0.37242	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.02682	4.2;4.2	4.0	4.0	0.46444	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31519	U	0.007517	T	0.09468	0.0233	M	0.69185	2.1	0.22081	N	0.999376	D;P	0.63880	0.993;0.949	P;P	0.53224	0.721;0.572	T	0.03231	-1.1058	10	0.54805	T	0.06	.	16.5501	0.84470	0.0:0.0:1.0:0.0	.	452;452	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	452	ENSP00000436426:A452T;ENSP00000367365:A452T	ENSP00000367365:A452T	A	+	1	0	PCDHA7	140195506	0.000000	0.05858	0.271000	0.24616	0.033000	0.12548	0.057000	0.14279	1.951000	0.56629	0.298000	0.19748	GCC	PCDHA7	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204963		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0	121	0	G	NM_018910		140215322	1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	74.23	21	72	SNP	0.766	A	A	140215322	G	A	140215322	3	1	149	1	0	0	0	0	1	0	0	0	11568	1087	38	1	1356	1	PCDHA7	5	140215322	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	8584839	140215322	40699938	62	37913											
PCDHB3	56132	genome.wustl.edu	37	chr5	140480414	140480414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagggtagaggaactggccGcgaggggggcccaagttgtg	9	6	19	7	2	0	1	0	0	0	1	0	3	0	2	2	6	1	2	2	6	4	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:140480414G>A	ENST00000231130.2	+	1	181	c.181G>A	c.(181-183)Gcg>Acg	p.A61T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A61T(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAACTGGCCGCGAGGGGGGC	0.502																																																	1	Substitution - Missense(1)	prostate(1)											59	70	66					5																	140480414		2203	4300	6503	SO:0001583	missense	0			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.181G>A	5.37:g.140480414G>A	ENSP00000231130:p.Ala61Thr		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A61T	ENST00000231130.2	37	c.181	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	G	8.425	0.847361	0.17034	.	.	ENSG00000113205	ENST00000231130	T	0.28666	1.6	4.61	-0.593	0.11667	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.24699	0.0599	M	0.63428	1.95	0.09310	N	1	B	0.24186	0.099	B	0.21917	0.037	T	0.28964	-1.0027	9	0.23302	T	0.38	.	4.38	0.11290	0.2852:0.0:0.4682:0.2466	.	61	Q9Y5E6	PCDB3_HUMAN	T	61	ENSP00000231130:A61T	ENSP00000231130:A61T	A	+	1	0	PCDHB3	140460598	0.000000	0.05858	0.000000	0.03702	0.779000	0.44077	-0.283000	0.08433	-0.112000	0.11979	0.655000	0.94253	GCG	PCDHB3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin	ENSG00000113205		0.502	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0	21	0	G	NM_018937		140480414	1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	56.25	6	9	SNP	0.000	A	A	140480414	G	A	140480414	3	1	149	1	0	0	0	0	1	0	0	0	11582	1087	38	1	183	1	PCDHB3	5	140480414	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	265092	140480414	40434846	63	37914											
RNF14	9604	genome.wustl.edu	37	chr5	141357922	141357922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaacaccgtggcagcGtggtcctgtttgcctggatg	7	9	16	9	2	0	1	0	0	0	1	1	3	1	3	3	4	3	2	3	4	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:141357922G>A	ENST00000394520.2	+	5	670	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000356143.1_Missense_Mutation_p.V121M|RNF14_ENST00000347642.3_Missense_Mutation_p.V121M|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Missense_Mutation_p.V121M|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000540015.1_Intron	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	121	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)		CCGTGGCAGCGTGGTCCTGTT	0.428																																																	0													127	115	119					5																	141357922		2203	4300	6503	SO:0001583	missense	0			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.361G>A	5.37:g.141357922G>A	ENSP00000378028:p.Val121Met		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.V121M	ENST00000394520.2	37	c.361	CCDS4270.1	5	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754189	0.89843	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000507163;ENST00000394519	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	5.67	5.67	0.87782	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.108254	0.64402	D	0.000006	T	0.63896	0.2550	M	0.75777	2.31	0.58432	D	0.999999	P	0.52316	0.952	P	0.52758	0.708	T	0.64952	-0.6286	10	0.51188	T	0.08	.	19.8351	0.96655	0.0:0.0:1.0:0.0	.	121	Q9UBS8	RNF14_HUMAN	M	121	ENSP00000423420:V121M;ENSP00000423273:V121M;ENSP00000348462:V121M;ENSP00000378028:V121M;ENSP00000324956:V121M;ENSP00000420837:V121M;ENSP00000422527:V121M;ENSP00000378027:V121M	ENSP00000324956:V121M	V	+	1	0	RNF14	141338106	1.000000	0.71417	0.963000	0.40424	0.972000	0.66771	9.513000	0.98010	2.702000	0.92279	0.558000	0.71614	GTG	RNF14	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	ENSG00000013561		0.428	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	HGNC	protein_coding	OTTHUMT00000251860.2		0	50	0	G	NM_004290		141357922	1			no_errors	ENST00000347642	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	141357922	G	A	141357922	3	1	149	1	0	0	0	0	1	0	0	0	13488	1145	40	1	371	1	RNF14	5	141357922	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	877508	141357922	39557338	64	37915											
ATP10B	23120	genome.wustl.edu	37	chr5	160059358	160059358	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgagtccagctcctttggGgtctccagtcgcttagctgc	4	13	11	13	1	2	1	0	1	2	0	6	1	4	1	3	2	3	3	3	2	1	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:160059358G>T	ENST00000327245.5	-	13	2244	c.1398C>A	c.(1396-1398)acC>acA	p.T466T	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	466					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)			GCTCCTTTGGGGTCTCCAGTC	0.527																																																	0													102	98	99					5																	160059358		1933	4127	6060	SO:0001819	synonymous_variant	0			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.1398C>A	5.37:g.160059358G>T			Q9H725	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.T466	ENST00000327245.5	37	c.1398	CCDS43394.1	5																																																																																			ATP10B	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000118322		0.527	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1		0	50	0	G	NM_025153		160059358	-1			no_errors	ENST00000327245	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.996	T	T	160059358	G	T	160059358	2	4	149	1	0	0	0	0	0	0	0	1	1118	1219	43	3		3	ATP10B	5	160059358	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	18701436	160059358	20855902	65	37916											
GABRA6	2559	genome.wustl.edu	37	chr5	161128572	161128572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaatagtttcatcttcCgaggccaataaagtgctcac	11	12	7	11	1	3	0	2	0	1	0	4	1	4	0	3	1	2	2	3	1	5	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:161128572C>T	ENST00000274545.5	+	9	1588	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	GABRA6_ENST00000523217.1_Silent_p.S375S			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	385					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)	p.S385S(1)		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)	TTTCATCTTCCGAGGCCAATA	0.453										TCGA Ovarian(5;0.080)																																							1	Substitution - coding silent(1)	large_intestine(1)											104	104	104					5																	161128572		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1155C>T	5.37:g.161128572C>T			A8K096|Q4VAV2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.S385	ENST00000274545.5	37	c.1155	CCDS4356.1	5																																																																																			GABRA6	-	superfamily_Neurotrans-gated_channel_TM,prints_GABBAa6_rcpt	ENSG00000145863		0.453	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	-	0	18	0	C			161128572	1	tier1	-	no_errors	ENST00000274545	ensembl	human	known	74_37	silent	56.25	7	9	SNP	0.837	T	T	161128572	C	T	161128572	2	4	149	1	0	0	0	0	0	0	0	1	6189	639	23	1		1	GABRA6	5	161128572	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	1069214	161128572	19786688	66	37917											
DDX41	51428	genome.wustl.edu	37	chr5	176939340	176939340	+	Frame_Shift_Del	DEL	A	A	-																															caccacacgctttgttgatgAaggtagtggcgatgcctgtg																										TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:176939340delA	ENST00000507955.1	-	15	2127	c.1604delT	c.(1603-1605)ttcfs	p.F535fs	DOK3_ENST00000357198.4_5'Flank|DOK3_ENST00000377112.4_5'Flank|DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000501403.2_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	535	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTTGTTGATGAAGGTAGTGGC	0.612																																																	0													129	117	121					5																	176939340		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1604delT	5.37:g.176939340delA	ENSP00000422753:p.Phe535fs		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.F535fs	ENST00000507955.1	37	c.1604	CCDS4427.1	5																																																																																			DDX41	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000183258		0.612	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2		0	28	0	A	NM_016222		176939340	-1	tier1		no_errors	ENST00000507955	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	1.000	-	-	176939340	A	-	176939340	7	5	149	1	0	1	0	1	0	0	0	0	4370	246	9	0	276	0	DDX41	5	176939340	Frame_Shift_Del	DEL	A	TCGA-R6-A8W8-01B-11D-A37C-09	15810768	176939340	3975920	67	37918											
C5orf45	51149	genome.wustl.edu	37	chr5	179267905	179267905	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgacctcagagccaccCgagtcctgcacgccacggct	8	4	11	18	4	1	1	1	0	0	1	2	3	2	1	5	2	2	2	5	2	0	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:179267905C>T	ENST00000292586.6	-	6	594	c.504G>A	c.(502-504)tcG>tcA	p.S168S	C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000520698.1_Silent_p.S113S|C5orf45_ENST00000518219.1_Silent_p.S168S|C5orf45_ENST00000523084.1_Silent_p.S34S|C5orf45_ENST00000518235.1_Silent_p.S168S|C5orf45_ENST00000403396.2_Silent_p.S210S|C5orf45_ENST00000376931.2_Silent_p.S113S|C5orf45_ENST00000523267.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	168										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CAGAGCCACCCGAGTCCTGCA	0.597																																																	0													53	44	47					5																	179267905		2203	4300	6503	SO:0001819	synonymous_variant	0				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.504G>A	5.37:g.179267905C>T			B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	NULL	p.S168	ENST00000292586.6	37	c.504	CCDS34319.1	5																																																																																			C5orf45	-	NULL	ENSG00000161010		0.597	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf45	HGNC	protein_coding	OTTHUMT00000373760.2		0	27	0	C	NM_016175		179267905	-1			no_errors	ENST00000292586	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.000	T	T	179267905	C	T	179267905	2	4	149	1	0	0	0	0	0	0	0	1	2311	639	23	1		1	C5orf45	5	179267905	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	2328565	179267905	1647355	68	37919											
CNOT6	57472	genome.wustl.edu	37	chr5	179998294	179998294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagactttaaggagttgagGtataatgaaagtctcacaaa	18	10	9	4	0	1	3	1	2	1	1	2	4	1	4	0	2	0	2	0	2	6	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr5:179998294G>T	ENST00000393356.1	+	13	1747	c.1323G>T	c.(1321-1323)agG>agT	p.R441S	CNOT6_ENST00000261951.4_Missense_Mutation_p.R441S			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	441	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|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)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		AGGAGTTGAGGTATAATGAAA	0.368																																																	0													113	107	109					5																	179998294		2203	4300	6503	SO:0001583	missense	0			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1323G>T	5.37:g.179998294G>T	ENSP00000377024:p.Arg441Ser		A7MD46|D3DWR0	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.R441S	ENST00000393356.1	37	c.1323	CCDS4455.1	5	.	.	.	.	.	.	.	.	.	.	G	9.920	1.211846	0.22289	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.31769	1.48;1.48	5.86	0.732	0.18283	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	N	0.20357	0.565	0.58432	D	0.999997	B	0.29341	0.242	B	0.29353	0.101	T	0.09443	-1.0674	9	.	.	.	-14.8492	9.6133	0.39676	0.7296:0.0:0.2704:0.0	.	441	Q9ULM6	CNOT6_HUMAN	S	441	ENSP00000261951:R441S;ENSP00000377024:R441S	.	R	+	3	2	CNOT6	179930900	0.977000	0.34250	0.953000	0.39169	0.705000	0.40729	0.364000	0.20325	-0.089000	0.12484	-0.302000	0.09304	AGG	CNOT6	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000113300		0.368	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	HGNC	protein_coding	OTTHUMT00000253532.1	-	0	47	0	G	NM_015455		179998294	1	tier1	-	no_errors	ENST00000261951	ensembl	human	known	74_37	missense	84.00	4	21	SNP	0.997	T	T	179998294	G	T	179998294	3	4	149	1	0	0	0	0	1	0	0	0	3629	1252	44	3	1361	3	CNOT6	5	179998294	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	730389	179998294	916966	69	37920											
BTN3A1	11119	genome.wustl.edu	37	chr6	26408042	26408042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatcccgactgtggaagcaCctgtggttgcagacggagtg	9	8	14	10	2	0	1	0	0	0	1	1	4	1	3	2	3	2	3	2	3	1	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:26408042C>T	ENST00000289361.6	+	4	945	c.577C>T	c.(577-579)Cct>Tct	p.P193S	BTN3A1_ENST00000425234.2_Missense_Mutation_p.P193S|BTN3A1_ENST00000476549.2_Missense_Mutation_p.P193S|BTN3A1_ENST00000414912.2_Intron	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	193	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGTGGAAGCACCTGTGGTTGC	0.557																																																	0													192	169	177					6																	26408042		2203	4300	6503	SO:0001583	missense	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.577C>T	6.37:g.26408042C>T	ENSP00000289361:p.Pro193Ser		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.P193S	ENST00000289361.6	37	c.577	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	0.052	-1.248546	0.01469	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234	T;T;T	0.73152	-0.72;-0.72;-0.72	2.0	-2.75	0.05914	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44477	0.1295	N	0.21240	0.645	0.09310	N	1	D;D;D	0.89917	0.992;0.966;1.0	P;P;D	0.91635	0.848;0.772;0.999	T	0.47923	-0.9079	9	0.05721	T	0.95	.	6.4249	0.21764	0.0:0.2826:0.0:0.7174	.	193;193;193	O00481-3;O00481-2;O00481	.;.;BT3A1_HUMAN	S	193	ENSP00000420010:P193S;ENSP00000289361:P193S;ENSP00000396684:P193S	ENSP00000289361:P193S	P	+	1	0	BTN3A1	26516021	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.570000	0.02140	-0.798000	0.04444	0.511000	0.50034	CCT	BTN3A1	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000026950		0.557	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	-	0	72	0	C			26408042	1	tier1	-	no_errors	ENST00000289361	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.000	T	T	26408042	C	T	26408042	3	4	149	1	0	0	0	0	1	0	0	0	1566	507	18	3	587	3	BTN3A1	6	26408042	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09		26408042	144707025	70	37921											
BAT3	7917	genome.wustl.edu	37	chr6	31617094	31617094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggctgaggcagaccccGtcccagaagatgccccagaa	11	4	13	13	1	0	5	0	1	0	4	1	6	1	5	5	2	1	2	5	2	2	0	rs376898536		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:31617094G>T	ENST00000375964.6	-	4	618	c.305C>A	c.(304-306)aCg>aAg	p.T102K	BAG6_ENST00000404765.2_Missense_Mutation_p.T102K|BAG6_ENST00000439687.2_Missense_Mutation_p.T102K|BAG6_ENST00000375976.4_Missense_Mutation_p.T102K|BAG6_ENST00000211379.5_Missense_Mutation_p.T102K|BAG6_ENST00000362049.6_Missense_Mutation_p.T102K	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	102					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGCAGACCCCGTCCCAGAAGA	0.587																																																	0													80	86	84					6																	31617094		1511	2709	4220	SO:0001583	missense	0			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.305C>A	6.37:g.31617094G>T	ENSP00000365131:p.Thr102Lys		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.T102K	ENST00000375964.6	37	c.305	CCDS47403.1	6	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586878	0.66105	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000435080;ENST00000434444;ENST00000452994;ENST00000456622;ENST00000428326;ENST00000451898;ENST00000433828;ENST00000424480;ENST00000424176;ENST00000446826;ENST00000441054;ENST00000456286;ENST00000454165	T;T;T;T;T;T;T;T	0.48836	1.43;1.39;1.43;1.44;0.8;1.43;0.86;1.39	5.26	4.37	0.52481	.	0.472153	0.24470	N	0.038244	T	0.10895	0.0266	N	0.14661	0.345	0.35961	D	0.834602	B;B;B;B;B	0.34226	0.199;0.3;0.443;0.199;0.3	B;B;B;B;B	0.35039	0.049;0.106;0.194;0.049;0.106	T	0.06789	-1.0807	10	0.06099	T	0.92	.	9.2233	0.37390	0.1801:0.0:0.8199:0.0	.	102;102;102;102;102	E7EMZ4;F8VXY4;B0UX85;P46379;P46379-2	.;.;.;BAG6_HUMAN;.	K	102	ENSP00000365143:T102K;ENSP00000365131:T102K;ENSP00000211379:T102K;ENSP00000384494:T102K;ENSP00000402856:T102K;ENSP00000354875:T102K;ENSP00000397978:T102K;ENSP00000396503:T102K	ENSP00000211379:T102K	T	-	2	0	BAG6	31725073	0.938000	0.31826	1.000000	0.80357	0.973000	0.67179	1.173000	0.31920	1.396000	0.46663	0.561000	0.74099	ACG	BAG6	-	NULL	ENSG00000204463		0.587	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	HGNC	protein_coding		-	0	49	0	G	NM_080703		31617094	-1	tier1	-	no_errors	ENST00000404765	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	31617094	G	T	31617094	3	4	149	1	0	0	0	0	1	0	0	0	1323	1145	40	2	3181	2	BAT3	6	31617094	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	5209052	31617094	139497973	71	37922											
AARS2	57505	genome.wustl.edu	37	chr6	44279946	44279946	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgttggccacacgtcGgaagcctgccatctcgcttc	5	10	11	15	3	1	0	0	0	1	0	4	1	1	1	3	3	2	3	3	3	1	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:44279946G>A	ENST00000244571.4	-	2	300	c.298C>T	c.(298-300)Cga>Tga	p.R100*	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)			GCCACACGTCGGAAGCCTGCC	0.522																																																	0													121	90	101					6																	44279946		2203	4300	6503	SO:0001587	stop_gained	0			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.298C>T	6.37:g.44279946G>A	ENSP00000244571:p.Arg100*			Nonsense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.R100*	ENST00000244571.4	37	c.298	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.050792	0.97236	.	.	ENSG00000124608	ENST00000244571	.	.	.	4.9	4.9	0.64082	.	0.074256	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-7.4574	13.2689	0.60150	0.0:0.0:0.8416:0.1584	.	.	.	.	X	100	.	ENSP00000244571:R100X	R	-	1	2	AARS2	44387924	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	2.595000	0.46197	2.540000	0.85666	0.436000	0.28706	CGA	AARS2	-	pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000124608		0.522	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2	-	0	34	0	G	NM_020745		44279946	-1	tier1	-	no_errors	ENST00000244571	ensembl	human	known	74_37	nonsense	21.59	69	19	SNP	1.000	A	A	44279946	G	A	44279946	4	1	149	1	0	0	0	0	0	1	0	0	20	1124	39	1	2743	1	AARS2	6	44279946	Nonsense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	12662852	44279946	126835121	72	37923											
DST	667	genome.wustl.edu	37	chr6	56392430	56392430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccttgcaagctgcagcGcctgttccagagtcttggcc	5	9	12	15	2	1	1	0	0	1	1	2	1	2	1	5	1	4	4	5	1	1	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:56392430G>T	ENST00000361203.3	-	63	16830	c.16823C>A	c.(16822-16824)gCg>gAg	p.A5608E	DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.A3631E|DST_ENST00000370754.5_Missense_Mutation_p.A5897E|DST_ENST00000370769.4_Missense_Mutation_p.A5719E|DST_ENST00000446842.2_Missense_Mutation_p.A5393E|DST_ENST00000244364.6_Missense_Mutation_p.A3305E|DST_ENST00000370788.2_Missense_Mutation_p.A3522E			Q03001	DYST_HUMAN	dystonin	5608					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)			AAGCTGCAGCGCCTGTTCCAG	0.448																																																	0													112	111	111					6																	56392430		1984	4178	6162	SO:0001583	missense	0			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.16823C>A	6.37:g.56392430G>T	ENSP00000354508:p.Ala5608Glu		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A5897E	ENST00000361203.3	37	c.17690		6	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371250	0.42003	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.66280	0.84;1.11;1.11;-0.2;0.63;0.33;1.11	5.62	5.62	0.85841	.	0.000000	0.51477	D	0.000087	T	0.79701	0.4491	M	0.85299	2.745	0.34252	D	0.678928	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79784	0.977;0.989;0.993;0.945;0.92	T	0.81422	-0.0940	9	0.59425	D	0.04	.	19.6632	0.95882	0.0:0.0:1.0:0.0	.	3631;5719;5897;5717;3305	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	E	3305;5897;5719;3631;5393;3522;5608	ENSP00000244364:A3305E;ENSP00000359790:A5897E;ENSP00000359805:A5719E;ENSP00000400883:A3631E;ENSP00000393645:A5393E;ENSP00000359824:A3522E;ENSP00000354508:A5608E	ENSP00000244364:A3305E	A	-	2	0	DST	56500389	1.000000	0.71417	0.819000	0.32651	0.110000	0.19582	3.371000	0.52379	2.625000	0.88918	0.655000	0.94253	GCG	DST	-	superfamily_ABC1_TM_dom	ENSG00000151914		0.448	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0	46	0	G	NM_001723		56392430	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.997	T	T	56392430	G	T	56392430	3	4	149	1	0	0	0	0	1	0	0	0	4797	1087	38	2	5745	2	DST	6	56392430	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	12112484	56392430	114722637	73	37924											
SLC17A5	26503	genome.wustl.edu	37	chr6	74320149	74320149	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatatccagatggttgatGctaaatccagaagagcaaaa	17	8	9	7	0	0	4	0	1	0	3	2	4	2	4	2	1	2	4	2	1	7	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:74320149G>A	ENST00000355773.5	-	9	1501	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	SLC17A5_ENST00000393019.3_Intron	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	411					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATGGTTGATGCTAAATCCAG	0.383																																																	0													106	110	109					6																	74320149		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1233C>T	6.37:g.74320149G>A			Q5SZ76|Q8NBR5|Q9UGH0	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S411	ENST00000355773.5	37	c.1233	CCDS4981.1	6																																																																																			SLC17A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000119899		0.383	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A5	HGNC	protein_coding	OTTHUMT00000041228.1	-	0	43	0	G			74320149	-1	tier1	-	no_errors	ENST00000355773	ensembl	human	known	74_37	silent	7.84	46	4	SNP	1.000	A	A	74320149	G	A	74320149	2	1	149	1	0	0	0	0	0	0	0	1	14465	1310	46	3		3	SLC17A5	6	74320149	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	17927719	74320149	96794918	74	37925											
GRIK2	2898	genome.wustl.edu	37	chr6	102124642	102124642	+	Missense_Mutation	SNP	A	A	T	1	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	ggagtttcatgtaatctttgAttgtagccatgaaatggcag	11	14	11	5	0	2	2	1	2	1	0	2	3	2	3	1	2	1	4	1	2	3	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:102124642A>T	ENST00000421544.1	+	4	1176	c.686A>T	c.(685-687)gAt>gTt	p.D229V	GRIK2_ENST00000413795.1_Missense_Mutation_p.D229V|GRIK2_ENST00000358361.3_Missense_Mutation_p.D229V|GRIK2_ENST00000369138.1_Missense_Mutation_p.D229V|GRIK2_ENST00000369134.4_Missense_Mutation_p.D180V|GRIK2_ENST00000318991.6_Missense_Mutation_p.D229V|GRIK2_ENST00000369137.3_Missense_Mutation_p.D229V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	229					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)	p.D229V(2)		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)	GTAATCTTTGATTGTAGCCAT	0.338																																																	2	Substitution - Missense(2)	lung(2)											75	78	77					6																	102124642		2203	4300	6503	SO:0001583	missense	0				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.686A>T	6.37:g.102124642A>T	ENSP00000397026:p.Asp229Val		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D229V	ENST00000421544.1	37	c.686	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448270	0.84101	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.107320	0.64402	D	0.000007	D	0.91057	0.7186	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92683	0.6160	10	0.87932	D	0	.	16.0977	0.81139	1.0:0.0:0.0:0.0	.	229;229;229	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	229;229;229;229;229;229;229;180;191	ENSP00000397026:D229V;ENSP00000405596:D229V;ENSP00000358134:D229V;ENSP00000351128:D229V;ENSP00000358133:D229V;ENSP00000313276:D229V;ENSP00000358130:D180V	ENSP00000313276:D229V	D	+	2	0	GRIK2	102231335	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.338000	0.96553	2.216000	0.71823	0.528000	0.53228	GAT	GRIK2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000164418		0.338	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1		0	39	0	A			102124642	1			no_errors	ENST00000421544	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	102124642	A	T	102124642	3	4	149	1	0	0	0	0	1	0	0	0	6801	333	12	5	700	5	GRIK2	6	102124642	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	27804493	102124642	68990425	75	37926											
SMPDL3A	10924	genome.wustl.edu	37	chr6	123116897	123116897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccacacaaaagtgtgtgCttcatctaaaggtgcaaatg	14	10	9	8	0	2	1	1	1	1	0	2	1	2	1	1	1	2	2	1	1	5	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:123116897C>T	ENST00000368440.4	+	2	365	c.188C>T	c.(187-189)gCt>gTt	p.A63V	SMPDL3A_ENST00000487215.1_3'UTR|SMPDL3A_ENST00000539041.1_Intron	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	63					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)		AAAGTGTGTGCTTCATCTAAA	0.393																																																	0													153	136	142					6																	123116897		2203	4300	6503	SO:0001583	missense	0			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.188C>T	6.37:g.123116897C>T	ENSP00000357425:p.Ala63Val		B7Z729|Q8WV13	Missense_Mutation	SNP	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.A63V	ENST00000368440.4	37	c.188	CCDS5128.1	6	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808678	0.31961	.	.	ENSG00000172594	ENST00000368440	D	0.95103	-3.61	5.27	5.27	0.74061	Metallophosphoesterase domain (1);	0.406299	0.29745	N	0.011309	D	0.85531	0.5718	L	0.34521	1.04	0.80722	D	1	B	0.24317	0.101	B	0.28385	0.089	T	0.81174	-0.1053	10	0.17369	T	0.5	-7.32	12.5889	0.56432	0.0:0.9235:0.0:0.0765	.	63	Q92484	ASM3A_HUMAN	V	63	ENSP00000357425:A63V	ENSP00000357425:A63V	A	+	2	0	SMPDL3A	123158596	0.749000	0.28305	0.865000	0.33974	0.956000	0.61745	2.824000	0.48088	2.614000	0.88457	0.650000	0.86243	GCT	SMPDL3A	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000172594		0.393	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1	-	0	47	0	C	NM_006714		123116897	1	tier1	-	no_errors	ENST00000368440	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.946	T	T	123116897	C	T	123116897	3	4	149	1	0	0	0	0	1	0	0	0	14853	797	28	3	194	3	SMPDL3A	6	123116897	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	20992255	123116897	47998170	76	37927											
MAP3K5	4217	genome.wustl.edu	37	chr6	136913591	136913591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaccccaaaaagagtgtccGaattcccttgacatctcttt	11	13	5	12	1	1	2	0	1	1	1	4	3	3	2	4	0	1	0	4	0	4	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:136913591G>A	ENST00000359015.4	-	22	3400	c.3040C>T	c.(3040-3042)Cgg>Tgg	p.R1014W	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R261W	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1014					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AAGAGTGTCCGAATTCCCTTG	0.448																																																	0													156	157	157					6																	136913591		2203	4300	6503	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3040C>T	6.37:g.136913591G>A	ENSP00000351908:p.Arg1014Trp		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1014W	ENST00000359015.4	37	c.3040	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846844	0.51164	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.72505	-0.51;-0.66	5.78	4.91	0.64330	.	0.058093	0.64402	D	0.000002	T	0.73984	0.3657	L	0.51422	1.61	0.53688	D	0.999976	D;D	0.89917	0.984;1.0	P;D	0.79784	0.586;0.993	T	0.78125	-0.2326	10	0.66056	D	0.02	.	13.5545	0.61751	0.0:0.0:0.5986:0.4014	.	1095;1014	Q59GL6;Q99683	.;M3K5_HUMAN	W	1014;261;1094	ENSP00000351908:R1014W;ENSP00000348104:R261W	ENSP00000348104:R261W	R	-	1	2	MAP3K5	136955284	0.958000	0.32768	0.986000	0.45419	0.977000	0.68977	1.530000	0.36007	1.431000	0.47355	0.655000	0.94253	CGG	MAP3K5	-	NULL	ENSG00000197442		0.448	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1		0	29	0	G			136913591	-1			no_errors	ENST00000359015	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.960	A	A	136913591	G	A	136913591	3	1	149	1	0	0	0	0	1	0	0	0	9291	1057	37	1	1120	1	MAP3K5	6	136913591	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	13796694	136913591	34201476	77	37928											
HIVEP2	3097	genome.wustl.edu	37	chr6	143074677	143074677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgtttcatcaacagcCgaggagaggagggagtgcta	10	9	14	8	1	3	1	2	0	1	1	3	5	3	3	1	3	4	3	1	3	2	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:143074677C>T	ENST00000367604.1	-	9	7547	c.6908G>A	c.(6907-6909)cGg>cAg	p.R2303Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R2303Q|HIVEP2_ENST00000367603.2_Missense_Mutation_p.R2303Q|RP1-67K17.3_ENST00000437067.1_RNA			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2303					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)		CATCAACAGCCGAGGAGAGGA	0.512																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													91	93	92					6																	143074677		2009	4176	6185	SO:0001583	missense	0			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.6908G>A	6.37:g.143074677C>T	ENSP00000356576:p.Arg2303Gln		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2303Q	ENST00000367604.1	37	c.6908	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	7.020	0.558507	0.13436	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02236	4.38;4.38;4.38	5.78	3.79	0.43588	.	0.450941	0.25987	N	0.027028	T	0.00754	0.0025	L	0.34521	1.04	0.25279	N	0.989453	B	0.33103	0.397	B	0.19391	0.025	T	0.48980	-0.8986	10	0.38643	T	0.18	-12.0397	12.4199	0.55514	0.6165:0.3835:0.0:0.0	.	2303	P31629	ZEP2_HUMAN	Q	2303	ENSP00000356576:R2303Q;ENSP00000356575:R2303Q;ENSP00000012134:R2303Q	ENSP00000012134:R2303Q	R	-	2	0	HIVEP2	143116370	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	3.486000	0.53215	1.387000	0.46486	0.655000	0.94253	CGG	HIVEP2	-	NULL	ENSG00000010818		0.512	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	-	0	14	0	C			143074677	-1	tier1	-	no_errors	ENST00000012134	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.986	T	T	143074677	C	T	143074677	3	4	149	1	0	0	0	0	1	0	0	0	7214	652	23	1	436	1	HIVEP2	6	143074677	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	6161086	143074677	28040390	78	37929											
SYNE1	23345	genome.wustl.edu	37	chr6	152751266	152751266	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatatgttcttgaagaactTtgtatgtttctgtagctgaa	10	17	8	6	0	2	3	0	2	2	1	2	3	2	3	1	0	2	5	1	0	6	7			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:152751266T>G	ENST00000367255.5	-	36	5370	c.4769A>C	c.(4768-4770)aAa>aCa	p.K1590T	SYNE1_ENST00000448038.1_Missense_Mutation_p.K1597T|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1660T|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1597T|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1590T|SYNE1_ENST00000367253.4_Missense_Mutation_p.K1590T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1590					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)		TTGAAGAACTTTGTATGTTTC	0.299										HNSCC(10;0.0054)																																							0													50	47	48					6																	152751266		2200	4289	6489	SO:0001583	missense	0			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.4769A>C	6.37:g.152751266T>G	ENSP00000356224:p.Lys1590Thr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K1590T	ENST00000367255.5	37	c.4769	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	10.35	1.324855	0.24080	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.97	2.17	0.27698	.	0.271390	0.32081	N	0.006609	T	0.27027	0.0662	L	0.53249	1.67	0.80722	D	1	B;P;P;P;P	0.51240	0.361;0.905;0.493;0.905;0.943	B;B;P;B;P	0.51453	0.177;0.394;0.447;0.394;0.67	T	0.22800	-1.0206	10	0.18710	T	0.47	.	2.1137	0.03708	0.116:0.2476:0.1201:0.5163	.	1573;1590;1590;1590;1597	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	T	1590;1597;1590;1597;1660;1590	ENSP00000356224:K1590T;ENSP00000396024:K1597T;ENSP00000265368:K1590T;ENSP00000390975:K1597T;ENSP00000341887:K1660T;ENSP00000356222:K1590T	ENSP00000265368:K1590T	K	-	2	0	SYNE1	152792959	0.290000	0.24343	1.000000	0.80357	0.991000	0.79684	-0.137000	0.10389	0.478000	0.27488	0.528000	0.53228	AAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.299	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	51	0	T	NM_182961		152751266	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	58.82	21	30	SNP	0.995	G	G	152751266	T	G	152751266	3	3	149	1	0	0	0	0	1	0	0	0	15492	1841	64	4	22141	4	SYNE1	6	152751266	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	9676589	152751266	18363801	79	37930											
RSPH3	83861	genome.wustl.edu	37	chr6	159401884	159401884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggtcagccaggtaacGctgtgcaaatgctcgggcgg	10	6	16	9	3	1	1	1	0	0	1	2	2	1	1	1	4	4	4	1	4	3	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr6:159401884G>A	ENST00000252655.1	-	6	1396	c.1207C>T	c.(1207-1209)Cgt>Tgt	p.R403C	RSPH3_ENST00000367069.2_Missense_Mutation_p.R261C|RSPH3_ENST00000449822.1_Missense_Mutation_p.R165C|RSPH3_ENST00000297262.3_Missense_Mutation_p.R307C	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	403										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)		GCCAGGTAACGCTGTGCAAAT	0.468																																																	0													208	164	179					6																	159401884		2203	4300	6503	SO:0001583	missense	0			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.1207C>T	6.37:g.159401884G>A	ENSP00000252655:p.Arg403Cys		Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	pfam_Radial_spoke_3	p.R403C	ENST00000252655.1	37	c.1207	CCDS5260.1	6	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711884	0.68730	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.81	3.95	0.45737	.	0.373651	0.32386	N	0.006176	T	0.29223	0.0727	L	0.55481	1.735	0.40290	D	0.978492	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.947	T	0.00802	-1.1560	10	0.56958	D	0.05	-10.9622	12.8947	0.58093	0.0:0.1223:0.7519:0.1259	.	307;403	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	C	261;165;403;307	ENSP00000356036:R261C;ENSP00000393195:R165C;ENSP00000252655:R403C;ENSP00000297262:R307C	ENSP00000252655:R403C	R	-	1	0	RSPH3	159321872	1.000000	0.71417	0.912000	0.35992	0.616000	0.37450	3.451000	0.52964	2.746000	0.94184	0.591000	0.81541	CGT	RSPH3	-	pfam_Radial_spoke_3	ENSG00000130363		0.468	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH3	HGNC	protein_coding		-	0	43	0	G	NM_031924		159401884	-1	tier1	-	no_errors	ENST00000252655	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	A	A	159401884	G	A	159401884	3	1	149	1	0	0	0	0	1	0	0	0	13750	1087	38	1	487	1	RSPH3	6	159401884	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	6650618	159401884	11713183	80	37931											
ISPD	729920	genome.wustl.edu	37	chr7	16445915	16445915	+	Missense_Mutation	SNP	A	A	G	1	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	taatacttttcattacttccAtgttctctccagttactgcc	8	18	3	12	0	2	0	1	0	1	0	5	0	4	0	3	0	4	2	3	0	4	8			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:16445915A>G	ENST00000407010.2	-	2	304	c.305T>C	c.(304-306)aTg>aCg	p.M102T	ISPD_ENST00000399310.3_Missense_Mutation_p.M102T	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	102					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)	p.M102R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CATTACTTCCATGTTCTCTCC	0.363										Multiple Myeloma(15;0.18)																																							1	Substitution - Missense(1)	ovary(1)											105	101	102					7																	16445915		1916	4132	6048	SO:0001583	missense	0			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.305T>C	7.37:g.16445915A>G	ENSP00000385478:p.Met102Thr		A8MU35|H9KVB2	Missense_Mutation	SNP	pfam_IspD	p.M102T	ENST00000407010.2	37	c.305		7	.	.	.	.	.	.	.	.	.	.	A	9.973	1.226146	0.22542	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.85258	-1.96;-1.96	5.69	3.28	0.37604	4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.529823	0.18170	U	0.149494	T	0.74801	0.3764	N	0.17723	0.515	0.25185	N	0.990178	B	0.25809	0.135	B	0.32289	0.143	T	0.63283	-0.6672	10	0.39692	T	0.17	-11.0741	8.2964	0.31988	0.7974:0.1339:0.0688:0.0	.	102	A4D126	ISPD_HUMAN	T	102	ENSP00000385478:M102T;ENSP00000382249:M102T	ENSP00000382249:M102T	M	-	2	0	ISPD	16412440	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	3.257000	0.51500	0.415000	0.25817	0.460000	0.39030	ATG	ISPD	-	pfam_IspD	ENSG00000214960		0.363	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ISPD	HGNC	protein_coding	OTTHUMT00000326252.4		0	36	0	A	NM_001101426		16445915	-1			no_errors	ENST00000407010	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.998	G	G	16445915	A	G	16445915	3	3	149	1	0	0	0	0	1	0	0	0	7891	217	8	4	1086	4	ISPD	7	16445915	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09		16445915	142692748	81	37932											
PKD1L1	168507	genome.wustl.edu	37	chr7	47897316	47897316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgcccagcaaggtcacCaggtaaatgcacctggacag	12	6	11	12	0	1	0	1	0	0	0	1	1	1	1	3	3	3	3	3	3	3	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:47897316C>T	ENST00000289672.2	-	28	4527	c.4477G>A	c.(4477-4479)Ggt>Agt	p.G1493S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1493	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCAAGGTCACCAGGTAAATGC	0.542																																																	0													73	74	74					7																	47897316		2203	4300	6503	SO:0001583	missense	0			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.4477G>A	7.37:g.47897316C>T	ENSP00000289672:p.Gly1493Ser		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.G1493S	ENST00000289672.2	37	c.4477	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304863	0.40795	.	.	ENSG00000158683	ENST00000289672	T	0.18338	2.22	5.22	3.39	0.38822	Egg jelly receptor, REJ-like (1);	0.967912	0.08496	N	0.937151	T	0.11495	0.0280	N	0.16478	0.41	0.09310	N	1	B	0.19583	0.037	B	0.14023	0.01	T	0.33059	-0.9883	10	0.41790	T	0.15	-5.8122	8.0888	0.30788	0.0:0.8104:0.0:0.1896	.	1493	Q8TDX9	PK1L1_HUMAN	S	1493	ENSP00000289672:G1493S	ENSP00000289672:G1493S	G	-	1	0	PKD1L1	47863841	0.000000	0.05858	0.001000	0.08648	0.893000	0.52053	-0.170000	0.09897	0.577000	0.29470	0.563000	0.77884	GGT	PKD1L1	-	pfscan_REJ-like	ENSG00000158683		0.542	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	-	0	17	0	C	NM_138295		47897316	-1	tier1	-	no_errors	ENST00000289672	ensembl	human	known	74_37	missense	44.44	25	20	SNP	0.015	T	T	47897316	C	T	47897316	3	4	149	1	0	0	0	0	1	0	0	0	12003	594	21	3	4192	3	PKD1L1	7	47897316	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	31451401	47897316	111241347	82	37933											
CCDC146	57639	genome.wustl.edu	37	chr7	76909903	76909903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacttgccaacacgatcacaAtgatcgaagaggagatggtg	14	7	12	8	2	1	3	1	1	0	2	2	7	1	3	1	2	2	0	1	2	3	1	rs376608993		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:76909903A>G	ENST00000285871.4	+	14	1979	c.1852A>G	c.(1852-1854)Atg>Gtg	p.M618V	CCDC146_ENST00000431197.1_Missense_Mutation_p.M332V|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	618										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)				CACGATCACAATGATCGAAGA	0.418																																																	0													98	83	88					7																	76909903		2203	4300	6503	SO:0001583	missense	0			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.1852A>G	7.37:g.76909903A>G	ENSP00000285871:p.Met618Val		A8K8X6|Q9P223	Missense_Mutation	SNP	NULL	p.M618V	ENST00000285871.4	37	c.1852	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	A	2.111	-0.403708	0.04832	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.39997	1.05;1.05	6.08	-12.2	0.00006	.	1.140610	0.06227	N	0.687866	T	0.14056	0.0340	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.17228	-1.0376	10	0.28530	T	0.3	0.4614	7.3892	0.26901	0.1185:0.2408:0.4969:0.1438	.	332;618	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	V	618;332	ENSP00000285871:M618V;ENSP00000413885:M332V	ENSP00000285871:M618V	M	+	1	0	AC007000.1	76747839	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-2.562000	0.00920	-2.440000	0.00550	-1.208000	0.01637	ATG	CCDC146	-	NULL	ENSG00000135205		0.418	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	-	0	33	0	A	NM_020879		76909903	1	tier1	-	no_errors	ENST00000285871	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.000	G	G	76909903	A	G	76909903	3	3	149	1	0	0	0	0	1	0	0	0	2787	101	4	4	1902	4	CCDC146	7	76909903	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	29012587	76909903	82228760	83	37934											
CACNA2D1	781	genome.wustl.edu	37	chr7	81579725	81579725	+	Missense_Mutation	SNP	T	T	G	0	1	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	aggtcataacaggcggtgtgTgctgccagataccagccaaa	12	7	12	10	1	1	1	1	0	0	1	1	1	1	1	3	3	5	1	3	3	3	2	rs376529606		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:81579725T>G	ENST00000356253.5	-	39	3550	c.3295A>C	c.(3295-3297)Aca>Cca	p.T1099P	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.T1087P|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.T299P			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1099					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)	AGGCGGTGTGTGCTGCCAGAT	0.453																																																	0													97	97	97					7																	81579725		2203	4300	6503	SO:0001583	missense	0			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.3295A>C	7.37:g.81579725T>G	ENSP00000348589:p.Thr1099Pro		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.T1099P	ENST00000356253.5	37	c.3295		7	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736370	0.49045	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.30714	3.27;3.27;1.52	4.96	4.96	0.65561	.	0.447946	0.22594	N	0.058045	T	0.14527	0.0351	N	0.01874	-0.695	0.26285	N	0.978215	B;B	0.14012	0.009;0.007	B;B	0.09377	0.004;0.002	T	0.18903	-1.0322	10	0.54805	T	0.06	-12.5479	14.9184	0.70815	0.0:0.0:0.0:1.0	.	299;1087	B7Z658;P54289-2	.;.	P	1087;1106;1099;299	ENSP00000349320:T1087P;ENSP00000348589:T1099P;ENSP00000443124:T299P	ENSP00000284088:T1106P	T	-	1	0	CACNA2D1	81417661	1.000000	0.71417	0.998000	0.56505	0.769000	0.43574	4.290000	0.59019	1.970000	0.57323	0.528000	0.53228	ACA	CACNA2D1	-	NULL	ENSG00000153956		0.453	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0	45	0	T			81579725	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	missense	12.82	68	10	SNP	1.000	G	G	81579725	T	G	81579725	3	3	149	1	0	0	0	0	1	0	0	0	2555	1696	59	4	20	4	CACNA2D1	7	81579725	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	4669822	81579725	77558938	84	37935											
TRRAP	8295	genome.wustl.edu	37	chr7	98579422	98579422	+	Missense_Mutation	SNP	T	T	C	0	1	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	gctgtccgaaggagatggccTggaaggtgaacatgtaccgc	10	7	15	9	2	0	2	0	1	0	1	1	5	1	3	3	4	2	2	3	4	4	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:98579422T>C	ENST00000359863.4	+	58	8853	c.8644T>C	c.(8644-8646)Tgg>Cgg	p.W2882R	TRRAP_ENST00000355540.3_Missense_Mutation_p.W2864R|TRRAP_ENST00000446306.3_Missense_Mutation_p.W2864R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2882	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)			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)			GGAGATGGCCTGGAAGGTGAA	0.587																																																	0													47	32	37					7																	98579422		2203	4300	6503	SO:0001583	missense	0			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.8644T>C	7.37:g.98579422T>C	ENSP00000352925:p.Trp2882Arg		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.W2882R	ENST00000359863.4	37	c.8644	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771647	0.90108	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02863	4.14;4.13	5.7	5.7	0.88788	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.12689	0.0308	M	0.63428	1.95	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.997	P;D;D	0.66351	0.897;0.943;0.916	T	0.00178	-1.1951	10	0.72032	D	0.01	.	15.9765	0.80071	0.0:0.0:0.0:1.0	.	2864;2603;2882	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	R	2882;2864;2863	ENSP00000352925:W2882R;ENSP00000347733:W2864R	ENSP00000347733:W2864R	W	+	1	0	TRRAP	98417358	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	8.040000	0.89188	2.172000	0.68678	0.533000	0.62120	TGG	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000196367		0.587	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	34	0	T	NM_003496		98579422	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	14.93	56	10	SNP	1.000	C	C	98579422	T	C	98579422	3	2	149	1	0	0	0	0	1	0	0	0	16649	1580	55	4	8812	4	TRRAP	7	98579422	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	16999697	98579422	60559241	85	37936											
OR2AE1	81392	genome.wustl.edu	37	chr7	99473789	99473789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacatctttattccggagagTataaatcagagaattcaatg	15	13	7	6	1	3	2	2	0	1	2	4	4	4	2	1	1	1	1	1	1	7	7			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:99473789T>C	ENST00000316368.2	-	1	891	c.868A>G	c.(868-870)Act>Gct	p.T290A		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TTCCGGAGAGTATAAATCAGA	0.463																																																	0													112	117	115					7																	99473789		2203	4300	6503	SO:0001583	missense	0			AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.868A>G	7.37:g.99473789T>C	ENSP00000313936:p.Thr290Ala		B2RPD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T290A	ENST00000316368.2	37	c.868	CCDS34696.1	7	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612979	0.28712	.	.	ENSG00000244623	ENST00000316368	T	0.35605	1.3	3.56	3.56	0.40772	.	0.000000	0.39615	N	0.001315	T	0.43122	0.1233	L	0.28344	0.845	0.09310	N	1	D	0.64830	0.994	D	0.70716	0.97	T	0.15925	-1.0420	10	0.87932	D	0	.	10.7203	0.46036	0.0:0.0:0.0:1.0	.	290	Q8NHA4	O2AE1_HUMAN	A	290	ENSP00000313936:T290A	ENSP00000313936:T290A	T	-	1	0	OR2AE1	99311725	0.008000	0.16893	0.048000	0.18961	0.352000	0.29268	0.832000	0.27490	1.851000	0.53745	0.317000	0.21355	ACT	OR2AE1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000244623		0.463	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AE1	HGNC	protein_coding	OTTHUMT00000345053.1	-	0	21	0	T			99473789	-1	tier1	-	no_errors	ENST00000316368	ensembl	human	known	74_37	missense	69.23	16	36	SNP	0.292	C	C	99473789	T	C	99473789	3	2	149	1	0	0	0	0	1	0	0	0	11022	1638	57	4	107	4	OR2AE1	7	99473789	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	894367	99473789	59664874	86	37937											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113517782	113517782	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagtagtgctgaggttacTtctttttgacagactctttt	9	18	8	6	0	2	3	0	2	2	1	2	3	2	3	0	1	2	3	0	1	4	8			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:113517782T>G	ENST00000284601.3	-	4	3433	c.3365A>C	c.(3364-3366)aAg>aCg	p.K1122T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1122					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGAGGTTACTTCTTTTTGAC	0.383																																																	0													95	96	96					7																	113517782		2203	4299	6502	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3365A>C	7.37:g.113517782T>G	ENSP00000284601:p.Lys1122Thr		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.K1122T	ENST00000284601.3	37	c.3365	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	T	16.76	3.211895	0.58452	.	.	ENSG00000154415	ENST00000284601	T	0.30981	1.51	5.74	5.74	0.90152	.	0.115334	0.43416	D	0.000571	T	0.43433	0.1247	L	0.27053	0.805	0.30635	N	0.757048	D	0.89917	1.0	D	0.71414	0.973	T	0.48559	-0.9025	10	0.87932	D	0	.	16.0249	0.80536	0.0:0.0:0.0:1.0	.	1122	Q16821	PPR3A_HUMAN	T	1122	ENSP00000284601:K1122T	ENSP00000284601:K1122T	K	-	2	0	PPP1R3A	113305018	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.249000	0.65427	2.181000	0.69327	0.528000	0.53228	AAG	PPP1R3A	-	NULL	ENSG00000154415		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	-	0	37	0	T	NM_002711		113517782	-1	tier1	-	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	39.13	14	9	SNP	1.000	G	G	113517782	T	G	113517782	3	3	149	1	0	0	0	0	1	0	0	0	12413	1609	56	4	7	4	PPP1R3A	7	113517782	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	14043993	113517782	45620881	87	37938											
GRM8	2918	genome.wustl.edu	37	chr7	126883137	126883137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataatgtccccatccaccCgtatggaatgggcatactcc	12	9	7	13	1	0	0	0	0	0	0	3	1	3	1	5	2	1	2	5	2	5	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:126883137C>T	ENST00000339582.2	-	2	930	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	GRM8_ENST00000444921.2_Missense_Mutation_p.R41Q|GRM8_ENST00000358373.3_Missense_Mutation_p.R41Q|GRM8_ENST00000405249.1_Missense_Mutation_p.R41Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	41					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)				CCCATCCACCCGTATGGAATG	0.527										HNSCC(24;0.065)																																							0													96	94	94					7																	126883137		2203	4300	6503	SO:0001583	missense	0				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.122G>A	7.37:g.126883137C>T	ENSP00000344173:p.Arg41Gln		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.R41Q	ENST00000339582.2	37	c.122	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133556	0.77662	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.82061	0.4955	L	0.55017	1.72	0.80722	D	1	D;P	0.71674	0.998;0.796	D;B	0.75484	0.986;0.139	T	0.78523	-0.2171	10	0.39692	T	0.17	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	41;41	O00222-2;O00222	.;GRM8_HUMAN	Q	41	ENSP00000344173:R41Q;ENSP00000409790:R41Q;ENSP00000351142:R41Q;ENSP00000385731:R41Q;ENSP00000415522:R41Q	ENSP00000344173:R41Q	R	-	2	0	GRM8	126670373	1.000000	0.71417	0.468000	0.27192	0.984000	0.73092	6.056000	0.71111	2.941000	0.99782	0.655000	0.94253	CGG	GRM8	-	superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_4	ENSG00000179603		0.527	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	-	0	41	0	C			126883137	-1	tier1	-	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.999	T	T	126883137	C	T	126883137	3	4	149	1	0	0	0	0	1	0	0	0	6830	652	23	1	2694	1	GRM8	7	126883137	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	13365355	126883137	32255526	88	37939											
DPP6	1804	genome.wustl.edu	37	chr7	154429553	154429553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatcaacactcgtatactgGatattacgtcctgagcaaaa	15	11	6	9	2	1	1	1	1	0	0	3	2	2	2	1	1	4	2	1	1	8	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr7:154429553G>T	ENST00000377770.3	+	6	791	c.650G>T	c.(649-651)gGa>gTa	p.G217V	DPP6_ENST00000332007.3_Missense_Mutation_p.G155V|DPP6_ENST00000404039.1_Missense_Mutation_p.G153V|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	217					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)			TCGTATACTGGATATTACGTC	0.368																																					NSCLC(125;1384 1783 2490 7422 34254)												0													156	128	137					7																	154429553		1844	4096	5940	SO:0001583	missense	0			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.650G>T	7.37:g.154429553G>T	ENSP00000367001:p.Gly217Val			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.G217V	ENST00000377770.3	37	c.650		7	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351820	0.61183	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007	T;T;T	0.39406	1.08;1.08;1.08	5.38	4.49	0.54785	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.052472	0.85682	D	0.000000	T	0.53417	0.1795	L	0.41492	1.28	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.69654	0.941;0.965;0.965	T	0.56402	-0.7985	10	0.87932	D	0	-14.8104	12.9454	0.58369	0.0:0.3349:0.665:0.0	.	155;217;153	P42658-2;P42658;E9PF59	.;DPP6_HUMAN;.	V	153;217;155	ENSP00000385578:G153V;ENSP00000367001:G217V;ENSP00000328226:G155V	ENSP00000328226:G155V	G	+	2	0	DPP6	154060486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.713000	0.47194	1.242000	0.43836	0.655000	0.94253	GGA	DPP6	-	pfam_Peptidase_S9B	ENSG00000130226		0.368	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	-	0	35	0	G	NM_130797		154429553	1	tier1	-	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	60.00	10	15	SNP	1.000	T	T	154429553	G	T	154429553	3	4	149	1	0	0	0	0	1	0	0	0	4744	1174	41	3	788	3	DPP6	7	154429553	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	27546416	154429553	4709110	89	37940											
DLGAP2	9228	genome.wustl.edu	37	chr8	1574961	1574961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggacacagcctggaccccGctgcgaactacaactccccg	9	5	10	17	3	0	0	0	0	0	0	1	3	1	2	5	2	5	1	5	2	3	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:1574961G>A	ENST00000421627.2	+	4	1392	c.1258G>A	c.(1258-1260)Gct>Act	p.A420T		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	499					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)		CCTGGACCCCGCTGCGAACTA	0.602																																																	0													47	50	49					8																	1574961		2020	4174	6194	SO:0001583	missense	0			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.1258G>A	8.37:g.1574961G>A	ENSP00000400258:p.Ala420Thr		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.A420T	ENST00000421627.2	37	c.1258	CCDS47760.1	8	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538278	0.27475	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.21932	1.98	5.16	-2.03	0.07365	.	0.367137	0.31963	N	0.006782	T	0.11707	0.0285	L	0.34521	1.04	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.001	T	0.22382	-1.0218	10	0.26408	T	0.33	-2.6424	7.2321	0.26049	0.3056:0.0:0.378:0.3165	.	499;499	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	T	465;420	ENSP00000400258:A420T	ENSP00000348366:A465T	A	+	1	0	DLGAP2	1562368	0.004000	0.15560	0.098000	0.21074	0.661000	0.39034	0.060000	0.14342	-0.252000	0.09528	-0.783000	0.03347	GCT	DLGAP2	-	NULL	ENSG00000198010		0.602	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	-	0	33	0	G	NM_004745		1574961	1	tier1	-	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	75.00	7	21	SNP	0.017	A	A	1574961	G	A	1574961	3	1	149	1	0	0	0	0	1	0	0	0	4574	1087	38	1	1268	1	DLGAP2	8	1574961	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09		1574961	144789061	90	37941											
PINX1	54984	genome.wustl.edu	37	chr8	10623267	10623267	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttatttcttttcttcccccTtttacgttccacctgcgtct	3	21	3	14	2	3	0	0	0	3	0	5	0	5	0	4	0	2	1	4	0	2	9			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:10623267T>C	ENST00000314787.3	-	7	750	c.631A>G	c.(631-633)Agg>Ggg	p.R211G	SOX7_ENST00000553390.1_Intron|PINX1_ENST00000519088.1_3'UTR|CTD-2135J3.3_ENST00000506149.2_RNA|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000426190.2_3'UTR|SOX7_ENST00000554914.1_Intron	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	211					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TTCTTCCCCCTTTTACGTTCC	0.532																																																	0													146	151	149					8																	10623267		1904	4115	6019	SO:0001583	missense	0			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"G patch domain containing"	30046	protein-coding gene	gene with protein product	"PIN2 interacting protein 1", "liver-related putative tumor suppressor"	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.631A>G	8.37:g.10623267T>C	ENSP00000318966:p.Arg211Gly		B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.R211G	ENST00000314787.3	37	c.631	CCDS47801.1	8	.	.	.	.	.	.	.	.	.	.	T	12.47	1.946898	0.34377	.	.	ENSG00000254093	ENST00000314787	T	0.17691	2.26	5.8	3.41	0.39046	.	1.640430	0.02538	N	0.094302	T	0.20700	0.0498	L	0.51422	1.61	0.20307	N	0.999915	B	0.06786	0.001	B	0.04013	0.001	T	0.26430	-1.0103	10	0.54805	T	0.06	.	7.5259	0.27656	0.0:0.1693:0.0:0.8307	.	211	Q96BK5	PINX1_HUMAN	G	211	ENSP00000318966:R211G	ENSP00000318966:R211G	R	-	1	2	PINX1	10660677	0.188000	0.23250	0.001000	0.08648	0.003000	0.03518	0.485000	0.22324	0.454000	0.26884	0.533000	0.62120	AGG	PINX1	-	NULL	ENSG00000254093		0.532	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINX1	HGNC	protein_coding	OTTHUMT00000375683.1		0	48	0	T	NM_017884		10623267	-1			no_errors	ENST00000314787	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.056	C	C	10623267	T	C	10623267	3	2	149	1	0	0	0	0	1	0	0	0	11972	1608	56	4	359	4	PINX1	8	10623267	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	9048306	10623267	135740755	91	37942											
DOCK5	80005	genome.wustl.edu	37	chr8	25158123	25158123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taattcgttggggcagtaacGggatgcccaaggaaatagag	13	8	14	6	2	0	1	0	0	0	1	1	3	0	3	1	4	2	3	1	4	5	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:25158123G>T	ENST00000276440.7	+	9	840	c.796G>T	c.(796-798)Ggg>Tgg	p.G266W	DOCK5_ENST00000481100.1_Missense_Mutation_p.G266W	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	266					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)		GGGCAGTAACGGGATGCCCAA	0.423																																					Pancreas(145;34 1887 3271 10937 30165)												0													138	123	128					8																	25158123		2203	4300	6503	SO:0001583	missense	0				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.796G>T	8.37:g.25158123G>T	ENSP00000276440:p.Gly266Trp		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.G266W	ENST00000276440.7	37	c.796	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908580	0.92107	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.18810	2.19;2.19	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63010	-0.6732	10	0.87932	D	0	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	266	Q9H7D0	DOCK5_HUMAN	W	266	ENSP00000429737:G266W;ENSP00000276440:G266W	ENSP00000276440:G266W	G	+	1	0	DOCK5	25214040	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	9.758000	0.98927	2.809000	0.96659	0.555000	0.69702	GGG	DOCK5	-	NULL	ENSG00000147459		0.423	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2		0	42	0	G	NM_024940		25158123	1			no_errors	ENST00000276440	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	25158123	G	T	25158123	3	4	149	1	0	0	0	0	1	0	0	0	4704	1116	39	2	830	2	DOCK5	8	25158123	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	14534856	25158123	121205899	92	37943											
ELP3	55140	genome.wustl.edu	37	chr8	28017783	28017783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agattatgttgcaaatggtgGctgggaaacattcttgtcat	11	14	11	5	0	2	1	1	0	1	1	2	2	2	2	0	3	2	3	0	3	3	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:28017783G>T	ENST00000256398.8	+	13	1672	c.1295G>T	c.(1294-1296)gGc>gTc	p.G432V	ELP3_ENST00000542181.1_Missense_Mutation_p.G303V|ELP3_ENST00000521015.1_Missense_Mutation_p.G418V|ELP3_ENST00000524103.1_Missense_Mutation_p.G360V|ELP3_ENST00000537665.1_Missense_Mutation_p.G313V|ELP3_ENST00000380353.4_Missense_Mutation_p.G340V	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	432	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)		GCAAATGGTGGCTGGGAAACA	0.343																																																	0													127	121	123					8																	28017783		2203	4300	6503	SO:0001583	missense	0				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.1295G>T	8.37:g.28017783G>T	ENSP00000256398:p.Gly432Val		B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3	p.G432V	ENST00000256398.8	37	c.1295	CCDS6065.1	8	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209511	0.79240	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353;ENST00000523357;ENST00000517975	.	.	.	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.049229	0.85682	D	0.000000	D	0.87160	0.6108	H	0.96720	3.87	0.80722	D	1	D;D	0.63880	0.993;0.975	D;P	0.70016	0.967;0.882	D	0.91017	0.4854	9	0.87932	D	0	-12.7749	14.5188	0.67838	0.0:0.0:1.0:0.0	.	313;432	B4DE19;Q9H9T3	.;ELP3_HUMAN	V	418;432;303;360;313;340;31;25	.	ENSP00000256398:G432V	G	+	2	0	ELP3	28073702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.785000	0.99042	2.543000	0.85770	0.655000	0.94253	GGC	ELP3	-	superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3	ENSG00000134014		0.343	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP3	HGNC	protein_coding	OTTHUMT00000219963.2	-	0	34	0	G	NM_018091		28017783	1	tier1	-	no_errors	ENST00000256398	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	28017783	G	T	28017783	3	4	149	1	0	0	0	0	1	0	0	0	5097	1203	42	3	1345	3	ELP3	8	28017783	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	2859660	28017783	118346239	93	37944											
CNGB3	54714	genome.wustl.edu	37	chr8	87683188	87683188	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccagtttgtgggctggcTtcgggtgaggagagatctcc	6	12	15	8	1	1	2	0	1	1	1	3	4	1	3	2	4	1	3	2	4	1	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:87683188T>G	ENST00000320005.5	-	4	524	c.477A>C	c.(475-477)gaA>gaC	p.E159D		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	159					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						GTGGGCTGGCTTCGGGTGAGG	0.493																																																	0													195	195	195					8																	87683188		2203	4300	6503	SO:0001583	missense	0			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.477A>C	8.37:g.87683188T>G	ENSP00000316605:p.Glu159Asp		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E159D	ENST00000320005.5	37	c.477	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609375	0.66558	.	.	ENSG00000170289	ENST00000320005	T	0.61274	0.12	5.53	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	L	0.55990	1.75	0.47778	D	0.999519	P;P	0.37636	0.603;0.468	B;B	0.42827	0.399;0.225	T	0.50474	-0.8824	10	0.51188	T	0.08	.	9.7213	0.40304	0.0:0.1798:0.0:0.8202	.	159;159	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	D	159	ENSP00000316605:E159D	ENSP00000316605:E159D	E	-	3	2	CNGB3	87752304	0.176000	0.23096	0.978000	0.43139	0.867000	0.49689	0.207000	0.17395	0.082000	0.17018	0.482000	0.46254	GAA	CNGB3	-	NULL	ENSG00000170289		0.493	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	-	0	63	0	T	NM_019098		87683188	-1	tier1	-	no_errors	ENST00000320005	ensembl	human	known	74_37	missense	77.59	13	45	SNP	0.998	G	G	87683188	T	G	87683188	3	3	149	1	0	0	0	0	1	0	0	0	3608	1606	56	4	2012	4	CNGB3	8	87683188	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	59665405	87683188	58680834	94	37945											
C8orf85	441376	genome.wustl.edu	37	chr8	117950643	117950643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccctcgccgccagccCgctgctggaggacctcagac	6	4	14	17	3	1	1	1	0	0	1	2	4	1	4	5	4	2	2	5	4	0	0	rs542421964		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:117950643C>T	ENST00000378279.3	+	1	206	c.161C>T	c.(160-162)cCg>cTg	p.P54L		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	54					lung development (GO:0030324)												GCCGCCAGCCCGCTGCTGGAG	0.731																																																	0													13	14	14					8																	117950643		2177	4265	6442	SO:0001583	missense	0			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.161C>T	8.37:g.117950643C>T	ENSP00000367528:p.Pro54Leu		A5PKU8	Missense_Mutation	SNP	NULL	p.P54L	ENST00000378279.3	37	c.161	CCDS34935.1	8	.	.	.	.	.	.	.	.	.	.	c	16.64	3.178955	0.57692	.	.	ENSG00000205002	ENST00000378279	T	0.31510	1.49	3.63	-4.08	0.03963	.	0.899723	0.09145	N	0.842440	T	0.12475	0.0303	L	0.29908	0.895	0.09310	N	1	B	0.18166	0.026	B	0.10450	0.005	T	0.38090	-0.9677	10	0.02654	T	1	-5.0042	0.3556	0.00356	0.3956:0.191:0.1714:0.242	.	54	Q4LEZ3	AARD_HUMAN	L	54	ENSP00000367528:P54L	ENSP00000367528:P54L	P	+	2	0	C8orf85	118019824	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.255000	0.02872	-0.691000	0.05135	-0.372000	0.07161	CCG	AARD	-	NULL	ENSG00000205002		0.731	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARD	HGNC	protein_coding	OTTHUMT00000381195.1	-	0	45	0	C	NM_001025357		117950643	1	tier1	-	no_errors	ENST00000378279	ensembl	human	known	74_37	missense	52.11	34	37	SNP	0.000	T	T	117950643	C	T	117950643	3	4	149	1	0	0	0	0	1	0	0	0	2448	652	23	1	163	1	C8orf85	8	117950643	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	30267455	117950643	28413379	95	37946											
SLC30A8	169026	genome.wustl.edu	37	chr8	118183343	118183343	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgacggggtgctgtctgtGcacagcctgcacatctggtc	5	10	14	12	2	2	0	0	0	2	0	4	1	2	0	1	3	4	3	1	3	0	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:118183343G>A	ENST00000456015.2	+	7	900	c.900G>A	c.(898-900)gtG>gtA	p.V300V	SLC30A8_ENST00000427715.2_Silent_p.V251V|SLC30A8_ENST00000519688.1_Silent_p.V251V|SLC30A8_ENST00000521243.1_Silent_p.V251V	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	300					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCTGTCTGTGCACAGCCTGC	0.453																																					Ovarian(162;1202 1922 6011 16223 52092)												0													191	174	180					8																	118183343		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.900G>A	8.37:g.118183343G>A			A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.V300	ENST00000456015.2	37	c.900	CCDS6322.1	8																																																																																			SLC30A8	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000164756		0.453	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A8	HGNC	protein_coding	OTTHUMT00000381205.1	-	0	34	0	G	NM_173851		118183343	1	tier1	-	no_errors	ENST00000456015	ensembl	human	known	74_37	silent	37.50	30	18	SNP	0.997	A	A	118183343	G	A	118183343	2	1	149	1	0	0	0	0	0	0	0	1	14606	1306	46	3		3	SLC30A8	8	118183343	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	232700	118183343	28180679	96	37947											
ZHX1	11244	genome.wustl.edu	37	chr8	124266802	124266802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgaatgccaaatgaatcaGggtttaccaatgcagtttca	13	10	8	10	1	2	1	2	1	0	0	2	2	2	1	3	1	3	3	3	1	5	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:124266802G>T	ENST00000522655.1	-	3	1925	c.1385C>A	c.(1384-1386)cCt>cAt	p.P462H	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.P462H|ZHX1_ENST00000297857.2_Missense_Mutation_p.P462H|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	462	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)			AAATGAATCAGGGTTTACCAA	0.413																																																	0													140	148	145					8																	124266802		2203	4300	6503	SO:0001583	missense	0			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.1385C>A	8.37:g.124266802G>T	ENSP00000428821:p.Pro462His		Q8IWD8	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P462H	ENST00000522655.1	37	c.1385	CCDS6342.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.91|10.91	1.483196|1.483196	0.26598|0.26598	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000520474|ENST00000297857;ENST00000395571;ENST00000522655	.|T;T;T	.|0.23552	.|1.9;1.9;1.9	5.08|5.08	5.08|5.08	0.68730|0.68730	.|Homeodomain-like (1);	.|0.438611	.|0.25296	.|N	.|0.031697	T|T	0.21427|0.21427	0.0516|0.0516	.|.	.|.	.|.	0.34346|0.34346	D|D	0.689272|0.689272	.|P	.|0.41643	.|0.758	.|B	.|0.40101	.|0.319	T|T	0.25012|0.25012	-1.0144|-1.0144	4|9	.|0.44086	.|T	.|0.13	-8.9552|-8.9552	9.3601|9.3601	0.38190|0.38190	0.1574:0.0:0.8426:0.0|0.1574:0.0:0.8426:0.0	.|.	.|462	.|Q9UKY1	.|ZHX1_HUMAN	M|H	147|462	.|ENSP00000297857:P462H;ENSP00000378938:P462H;ENSP00000428821:P462H	.|ENSP00000297857:P462H	L|P	-|-	1|2	2|0	ZHX1|ZHX1	124335983|124335983	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.917000|0.917000	0.54804|0.54804	3.944000|3.944000	0.56629|0.56629	2.635000|2.635000	0.89317|0.89317	0.455000|0.455000	0.32223|0.32223	CTG|CCT	ZHX1	-	superfamily_Homeodomain-like	ENSG00000165156		0.413	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1		0	17	0	G			124266802	-1			no_errors	ENST00000297857	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.969	T	T	124266802	G	T	124266802	3	4	149	1	0	0	0	0	1	0	0	0	17723	1000	35	3	1240	3	ZHX1	8	124266802	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	6083459	124266802	22097220	97	37948											
KCNQ3	3786	genome.wustl.edu	37	chr8	133142216	133142216	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtgcatatccacgaggaAgtccagcttcttccccatgt	9	11	8	13	1	1	0	0	0	1	0	4	2	4	1	4	1	2	2	4	1	2	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:133142216A>G	ENST00000388996.4	-	15	2332	c.1912T>C	c.(1912-1914)Ttc>Ctc	p.F638L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.F518L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.F626L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	638					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)	TCCACGAGGAAGTCCAGCTTC	0.517																																																	0													70	64	66					8																	133142216		2203	4300	6503	SO:0001583	missense	0			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.1912T>C	8.37:g.133142216A>G	ENSP00000373648:p.Phe638Leu		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.F638L	ENST00000388996.4	37	c.1912	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039706	0.75732	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99494	-6.01;-6.01;-6.01	5.73	5.73	0.89815	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.047081	0.85682	D	0.000000	D	0.98855	0.9613	N	0.26130	0.795	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	D	0.99342	1.0912	10	0.19590	T	0.45	-24.5147	15.1997	0.73126	1.0:0.0:0.0:0.0	.	626;638	E7ET42;O43525	.;KCNQ3_HUMAN	L	638;518;626;615;517	ENSP00000373648:F638L;ENSP00000429799:F518L;ENSP00000428790:F626L	ENSP00000373648:F638L	F	-	1	0	KCNQ3	133211398	1.000000	0.71417	0.993000	0.49108	0.874000	0.50279	8.730000	0.91510	2.190000	0.69967	0.454000	0.30748	TTC	KCNQ3	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000184156		0.517	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	38	0	A	NM_004519		133142216	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	80.43	9	37	SNP	1.000	G	G	133142216	A	G	133142216	3	3	149	1	0	0	0	0	1	0	0	0	8111	72	3	4	710	4	KCNQ3	8	133142216	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	8875414	133142216	13221806	98	37949											
SHARPIN	81858	genome.wustl.edu	37	chr8	145154929	145154929	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggactgggcagggagacaggGcatgcttctgggcccaaggc	8	5	18	10	0	1	1	0	0	1	1	1	3	1	2	1	6	1	3	1	6	1	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr8:145154929G>T	ENST00000398712.2	-	3	856	c.420C>A	c.(418-420)tgC>tgA	p.C140*	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	140	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGAGACAGGGCATGCTTCTG	0.607																																																	0													208	217	214					8																	145154929		2160	4255	6415	SO:0001587	stop_gained	0			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.420C>A	8.37:g.145154929G>T	ENSP00000381698:p.Cys140*		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Nonsense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.C140*	ENST00000398712.2	37	c.420	CCDS43777.1	8	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047924	0.75846	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	.	.	.	3.82	-0.0768	0.13721	.	1.953930	0.01887	N	0.038268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.385	0.21556	0.4398:0.0:0.5602:0.0	.	.	.	.	X	140	.	ENSP00000352551:C140X	C	-	3	2	SHARPIN	145226917	0.257000	0.24022	0.004000	0.12327	0.031000	0.12232	0.226000	0.17776	-0.132000	0.11557	0.462000	0.41574	TGC	SHARPIN	-	NULL	ENSG00000179526		0.607	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382901.1		0	70	0	G	NM_030974		145154929	-1			no_errors	ENST00000398712	ensembl	human	known	74_37	nonsense	5.21	91	5	SNP	0.012	T	T	145154929	G	T	145154929	4	4	149	1	0	0	0	0	0	1	0	0	14312	1195	42	3	767	3	SHARPIN	8	145154929	Nonsense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	12012713	145154929	1209093	99	37950											
C9orf82	79886	genome.wustl.edu	37	chr9	26892443	26892443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgagacgctggaagagtCggtactcctccgcttccggc	6	7	13	15	5	0	2	0	0	0	2	4	4	3	3	4	3	1	3	4	3	2	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:26892443C>A	ENST00000333916.5	-	1	359	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	CAAP1_ENST00000495958.1_5'UTR|CAAP1_ENST00000520187.1_Missense_Mutation_p.D91Y|CAAP1_ENST00000535437.1_5'Flank	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	91					apoptotic process (GO:0006915)												CTGGAAGAGTCGGTACTCCTC	0.667																																																	0													6	7	7					9																	26892443		2014	4024	6038	SO:0001583	missense	0			BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"conserved anti-apoptotic protein"		"chromosome 9 open reading frame 82"	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.271G>T	9.37:g.26892443C>A	ENSP00000369431:p.Asp91Tyr		B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Missense_Mutation	SNP	NULL	p.D91Y	ENST00000333916.5	37	c.271	CCDS6516.1	9	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722036	0.68959	.	.	ENSG00000120159	ENST00000333916;ENST00000520187	T	0.53857	0.6	5.21	5.21	0.72293	.	0.196245	0.52532	D	0.000061	T	0.54967	0.1891	L	0.27053	0.805	0.80722	D	1	D	0.60575	0.988	P	0.57152	0.814	T	0.58912	-0.7552	10	0.72032	D	0.01	-4.4162	14.6226	0.68597	0.0:1.0:0.0:0.0	.	91	Q9H8G2	CI082_HUMAN	Y	91	ENSP00000369431:D91Y	ENSP00000369431:D91Y	D	-	1	0	C9orf82	26882443	0.993000	0.37304	0.985000	0.45067	0.941000	0.58515	3.229000	0.51278	2.580000	0.87095	0.549000	0.68633	GAC	CAAP1	-	NULL	ENSG00000120159		0.667	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAAP1	HGNC	protein_coding	OTTHUMT00000051954.1		0	19	0	C	NM_024828		26892443	-1			no_errors	ENST00000333916	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.993	A	A	26892443	C	A	26892443	3	1	149	1	0	0	0	0	1	0	0	0	2506	884	31	2	838	2	C9orf82	9	26892443	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09		26892443	114320988	100	37951											
IFT74	80173	genome.wustl.edu	37	chr9	27060613	27060613	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	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	caaatttggagagaaagtggCaacaccttgagcaaaataat	18	8	9	6	0	0	2	0	1	0	1	0	4	0	3	1	2	2	2	1	2	6	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:27060613C>T	ENST00000443698.1	+	19	1819	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*	IFT74_ENST00000380062.5_Nonsense_Mutation_p.Q550*|IFT74_ENST00000433700.1_Nonsense_Mutation_p.Q550*	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	550					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)		GAGAAAGTGGCAACACCTTGA	0.353																																																	0													66	64	65					9																	27060613		1799	4070	5869	SO:0001587	stop_gained	0			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.1648C>T	9.37:g.27060613C>T	ENSP00000404122:p.Gln550*		Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Nonsense_Mutation	SNP	NULL	p.Q550*	ENST00000443698.1	37	c.1648	CCDS43793.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.244334	0.97408	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-15.0052	19.1419	0.93449	0.0:1.0:0.0:0.0	.	.	.	.	X	550	.	ENSP00000369402:Q550X	Q	+	1	0	IFT74	27050613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.474000	0.73578	2.517000	0.84864	0.655000	0.94253	CAA	IFT74	-	NULL	ENSG00000096872		0.353	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT74	HGNC	protein_coding	OTTHUMT00000055476.2		0	57	0	C	NM_025103		27060613	1			no_errors	ENST00000380062	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	1.000	T	T	27060613	C	T	27060613	4	4	149	1	0	0	0	0	0	1	0	0	7590	711	25	3	1787	3	IFT74	9	27060613	Nonsense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	168170	27060613	114152818	101	37952											
RASEF	158158	genome.wustl.edu	37	chr9	85616023	85616023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagggagtcacagtcctcatCcacataggaagagcgggatg	12	6	13	10	1	2	1	2	0	0	1	4	4	4	4	2	3	1	0	2	3	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:85616023C>T	ENST00000376447.3	-	10	1485	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	409					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						CAGTCCTCATCCACATAGGAA	0.507																																																	0													45	42	43					9																	85616023		2203	4300	6503	SO:0001583	missense	0			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.1225G>A	9.37:g.85616023C>T	ENSP00000365630:p.Asp409Asn		A6NC29|Q96N04	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.D409N	ENST00000376447.3	37	c.1225	CCDS6662.1	9	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566869	0.86439	.	.	ENSG00000165105	ENST00000376447	T	0.61274	0.12	5.92	5.92	0.95590	.	0.114416	0.64402	D	0.000009	T	0.71745	0.3376	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66156	-0.5994	10	0.33940	T	0.23	.	19.9242	0.97098	0.0:1.0:0.0:0.0	.	409	Q8IZ41	RASEF_HUMAN	N	409	ENSP00000365630:D409N	ENSP00000365630:D409N	D	-	1	0	RASEF	84805843	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.482000	0.60257	2.814000	0.96858	0.585000	0.79938	GAT	RASEF	-	NULL	ENSG00000165105		0.507	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1		0	18	0	C	NM_152573		85616023	-1			no_errors	ENST00000376447	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T	T	85616023	C	T	85616023	3	4	149	1	0	0	0	0	1	0	0	0	13113	855	30	3	1029	3	RASEF	9	85616023	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	58555410	85616023	55597408	102	37953											
RMI1	80010	genome.wustl.edu	37	chr9	86617740	86617740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattacaagatgttaatatGgaacaccttgagaatctaaa	17	11	7	6	0	1	2	0	1	1	2	1	4	1	3	1	1	2	2	1	1	8	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:86617740G>A	ENST00000325875.3	+	3	2171	c.1839G>A	c.(1837-1839)atG>atA	p.M613I		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	613					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						ATGTTAATATGGAACACCTTG	0.279																																																	0													74	67	69					9																	86617740		2203	4300	6503	SO:0001583	missense	0			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.1839G>A	9.37:g.86617740G>A	ENSP00000317039:p.Met613Ile		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	pfam_DUF1767	p.M613I	ENST00000325875.3	37	c.1839	CCDS6669.1	9	.	.	.	.	.	.	.	.	.	.	G	2.293	-0.361997	0.05103	.	.	ENSG00000178966	ENST00000325875	T	0.29142	1.58	5.76	2.97	0.34412	.	0.656672	0.15584	N	0.254760	T	0.15089	0.0364	N	0.14661	0.345	0.19575	N	0.999962	B	0.02656	0.0	B	0.06405	0.002	T	0.28138	-1.0053	9	.	.	.	-15.1655	5.5352	0.17007	0.3213:0.0:0.552:0.1267	.	613	Q9H9A7	RMI1_HUMAN	I	613	ENSP00000317039:M613I	.	M	+	3	0	RMI1	85807560	0.975000	0.34042	0.411000	0.26484	0.612000	0.37316	1.685000	0.37659	0.377000	0.24735	-0.251000	0.11542	ATG	RMI1	-	NULL	ENSG00000178966		0.279	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1		0	49	0	G	NM_024945		86617740	1			no_errors	ENST00000325875	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.183	A	A	86617740	G	A	86617740	3	1	149	1	0	0	0	0	1	0	0	0	13440	1348	47	3	1841	3	RMI1	9	86617740	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	1001717	86617740	54595691	103	37954											
PHF2	5253	genome.wustl.edu	37	chr9	96428130	96428130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaggaagaaaaacgccccGaaaagggacttgtcctgtga	15	5	13	8	2	0	2	0	1	0	1	1	6	1	5	3	3	1	0	3	3	5	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:96428130G>A	ENST00000359246.4	+	15	2467	c.2100G>A	c.(2098-2100)ccG>ccA	p.P700P	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	700					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)		AAAACGCCCCGAAAAGGGACT	0.612																																																	0													59	71	67					9																	96428130		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2100G>A	9.37:g.96428130G>A			Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.P700	ENST00000359246.4	37	c.2100	CCDS35069.1	9																																																																																			PHF2	-	NULL	ENSG00000197724		0.612	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	-	0	61	0	G	NM_005392		96428130	1	tier1	-	no_errors	ENST00000359246	ensembl	human	known	74_37	silent	21.67	47	13	SNP	0.712	A	A	96428130	G	A	96428130	2	1	149	1	0	0	0	0	0	0	0	1	11869	1045	37	1		1	PHF2	9	96428130	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	9810390	96428130	44785301	104	37955											
TMEFF1	8577	genome.wustl.edu	37	chr9	103261069	103261069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	ttaaatgtgagggagtctgaCgtaagagtttgtgatgagtc	11	13	14	3	1	1	5	0	4	1	1	2	6	1	6	0	1	0	2	0	1	3	3	rs201169780		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:103261069C>A	ENST00000374879.4	+	2	651	c.219C>A	c.(217-219)gaC>gaA	p.D73E	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.R37S|TMEFF1_ENST00000334943.6_Missense_Mutation_p.D34E	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	73					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)				GGGAGTCTGACGTAAGAGTTT	0.383																																																	0													144	145	145					9																	103261069		2203	4300	6503	SO:0001583	missense	0			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.219C>A	9.37:g.103261069C>A	ENSP00000364013:p.Asp73Glu		Q13086|Q8N3T8	Missense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom	p.D73E	ENST00000374879.4	37	c.219	CCDS6750.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.36|11.36	1.616214|1.616214	0.28801|0.28801	.|.	.|.	ENSG00000241697|ENSG00000251349	ENST00000334943;ENST00000374879|ENST00000502978	T;T|.	0.58060|.	0.36;0.41|.	5.76|5.76	0.802|0.802	0.18686|0.18686	Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.26919|0.26919	0.0659|0.0659	N|N	0.15975|0.15975	0.35|0.35	0.34216|0.34216	D|D	0.67488|0.67488	B;B|.	0.29188|.	0.236;0.095|.	B;B|.	0.36989|.	0.238;0.077|.	T|T	0.28554|0.28554	-1.0040|-1.0040	10|5	0.28530|.	T|.	0.3|.	-12.518|-12.518	4.4576|4.4576	0.11650|0.11650	0.1417:0.3247:0.0:0.5337|0.1417:0.3247:0.0:0.5337	.|.	73;34|.	Q8IYR6;Q8IYR6-2|.	TEFF1_HUMAN;.|.	E|S	34;73|37	ENSP00000334447:D34E;ENSP00000364013:D73E|.	ENSP00000334447:D34E|.	D|R	+|+	3|1	2|0	TMEFF1|C9orf30-TMEFF1	102300890|102300890	0.935000|0.935000	0.31712|0.31712	0.559000|0.559000	0.28332|0.28332	0.800000|0.800000	0.45204|0.45204	-0.118000|-0.118000	0.10692|0.10692	-0.025000|-0.025000	0.13918|0.13918	-1.708000|-1.708000	0.00717|0.00717	GAC|CGT	TMEFF1	-	NULL	ENSG00000241697		0.383	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF1	HGNC	protein_coding	OTTHUMT00000053418.1	-	0	43	0	C	NM_003692		103261069	1	tier1	-	no_errors	ENST00000374879	ensembl	human	known	74_37	missense	20.93	34	9	SNP	0.949	A	A	103261069	C	A	103261069	3	1	149	1	0	0	0	0	1	0	0	0	16060	535	19	2	225	2	TMEFF1	9	103261069	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	6832939	103261069	37952362	105	37956											
DBC1	1620	genome.wustl.edu	37	chr9	121929458	121929458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatgatctcgctgttggtCagtttcaggcggtgtttcag	5	15	13	8	2	4	2	3	2	1	0	5	2	4	2	0	3	0	4	0	3	0	3	rs146802258		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:121929458C>T	ENST00000265922.3	-	8	2651	c.2190G>A	c.(2188-2190)ctG>ctA	p.L730L	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	730					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)											CGCTGTTGGTCAGTTTCAGGC	0.557																																																	0													178	173	175					9																	121929458		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2190G>A	9.37:g.121929458C>T			Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.L730	ENST00000265922.3	37	c.2190	CCDS6822.1	9																																																																																			BRINP1	-	NULL	ENSG00000078725		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	51	0	C	NM_014618		121929458	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.978	T	T	121929458	C	T	121929458	2	4	149	1	0	0	0	0	0	0	0	1	4256	813	29	3		3	DBC1	9	121929458	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	18668389	121929458	19283973	106	37957											
TSC1	7248	genome.wustl.edu	37	chr9	135777079	135777079	+	Missense_Mutation	SNP	A	A	C	1	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	tcatgttcctgcagtcctccAgcttcgtctgcccaaagaga	8	11	8	14	1	2	1	1	0	1	1	6	2	5	1	4	0	3	3	4	0	1	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:135777079A>C	ENST00000298552.3	-	19	2620	c.2399T>G	c.(2398-2400)cTg>cGg	p.L800R	TSC1_ENST00000440111.2_Missense_Mutation_p.L800R|TSC1_ENST00000545250.1_Missense_Mutation_p.L749R	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	800					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)		GCAGTCCTCCAGCTTCGTCTG	0.542			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)											172	146	155					9																	135777079		2203	4300	6503	SO:0001583	missense	0	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.2399T>G	9.37:g.135777079A>C	ENSP00000298552:p.Leu800Arg	1620	B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.L800R	ENST00000298552.3	37	c.2399	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728116	0.89390	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.85339	-1.97;-1.97;-1.83	5.23	5.23	0.72850	.	0.233471	0.35291	N	0.003310	D	0.86318	0.5904	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.59221	0.854;0.854	D	0.87720	0.2572	10	0.62326	D	0.03	-10.3793	14.3022	0.66359	1.0:0.0:0.0:0.0	.	749;800	B7Z897;Q92574	.;TSC1_HUMAN	R	800;800;749	ENSP00000298552:L800R;ENSP00000394524:L800R;ENSP00000444017:L749R	ENSP00000298552:L800R	L	-	2	0	TSC1	134766900	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	8.955000	0.93058	1.972000	0.57404	0.455000	0.32223	CTG	TSC1	-	NULL	ENSG00000165699		0.542	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	-	0	38	0	A			135777079	-1	tier1	-	no_errors	ENST00000298552	ensembl	human	known	74_37	missense	55.56	12	15	SNP	1.000	C	C	135777079	A	C	135777079	3	2	149	1	0	0	0	0	1	0	0	0	16653	188	7	4	1115	4	TSC1	9	135777079	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	13847621	135777079	5436352	107	37958											
COL5A1	1289	genome.wustl.edu	37	chr9	137623484	137623484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gatcgggccgggaatgccggCgaaccaggataccatctatg	10	6	14	11	4	1	0	0	0	1	0	2	4	1	2	4	4	3	0	4	4	4	2	rs144269434		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:137623484C>T	ENST00000371817.3	+	8	1721	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	436	Nonhelical 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)		GGAATGCCGGCGAACCAGGAT	0.637																																																	0								C	VAL/ALA	0,4406		0,0,2203	85	85	85		1307	4.1	0.5	9	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	436/1839	137623484	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1307C>T	9.37:g.137623484C>T	ENSP00000360882:p.Ala436Val		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.A436V	ENST00000371817.3	37	c.1307	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583617	0.46006	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.90197	-2.63	4.06	4.06	0.47325	.	0.085282	0.47455	U	0.000236	D	0.92241	0.7539	L	0.42744	1.35	0.45284	D	0.998285	D	0.76494	0.999	D	0.65874	0.939	D	0.92199	0.5766	10	0.46703	T	0.11	.	14.4191	0.67171	0.0:1.0:0.0:0.0	.	436	P20908	CO5A1_HUMAN	V	436	ENSP00000360882:A436V	ENSP00000360882:A436V	A	+	2	0	COL5A1	136763305	0.994000	0.37717	0.471000	0.27229	0.591000	0.36615	4.459000	0.60102	1.799000	0.52666	0.313000	0.20887	GCG	COL5A1	-	NULL	ENSG00000130635		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	76	0	C	NM_000093		137623484	1	tier1	rs144269434	no_errors	ENST00000371817	ensembl	human	known	74_37	missense	31.34	46	21	SNP	0.779	T	T	137623484	C	T	137623484	3	4	149	1	0	0	0	0	1	0	0	0	3703	768	27	1	1337	1	COL5A1	9	137623484	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	1846405	137623484	3589947	108	37959											
OLFM1	10439	genome.wustl.edu	37	chr9	138011390	138011390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaacaaccgcttcgtacGtgagtacaagtccatggttg	11	10	9	11	3	1	1	1	1	0	0	3	1	2	1	2	1	4	4	2	1	5	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:138011390G>A	ENST00000371793.3	+	6	1075	c.824G>A	c.(823-825)cGt>cAt	p.R275H	OLFM1_ENST00000371796.3_Missense_Mutation_p.R248H|OLFM1_ENST00000252854.4_Missense_Mutation_p.R257H	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	275	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CGCTTCGTACGTGAGTACAAG	0.562																																																	0													128	115	119					9																	138011390		2203	4300	6503	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.824G>A	9.37:g.138011390G>A	ENSP00000360858:p.Arg275His		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.R275H	ENST00000371793.3	37	c.824		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.418866|4.418866	0.83559|0.83559	.|.	.|.	ENSG00000130558|ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793;ENST00000539877|ENST00000545657	D;D;D;D|.	0.88975|.	-2.45;-2.45;-2.45;-2.45|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Olfactomedin-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77532|0.77532	0.4144|0.4144	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.74023|.	0.98;0.982|.	T|T	0.78505|0.78505	-0.2178|-0.2178	10|5	0.45353|.	T|.	0.12|.	.|.	18.4324|18.4324	0.90630|0.90630	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	275;257|.	Q99784;Q6IMJ8|.	NOE1_HUMAN;.|.	H|M	257;248;275;172|99	ENSP00000252854:R257H;ENSP00000360861:R248H;ENSP00000360858:R275H;ENSP00000443806:R172H|.	ENSP00000252854:R257H|.	R|V	+|+	2|1	0|0	OLFM1|OLFM1	137151211|137151211	1.000000|1.000000	0.71417|0.71417	0.373000|0.373000	0.26003|0.26003	0.865000|0.865000	0.49528|0.49528	9.571000|9.571000	0.98176|0.98176	2.357000|2.357000	0.79964|0.79964	0.561000|0.561000	0.74099|0.74099	CGT|GTG	OLFM1	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000130558		0.562	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0	20	0	G	NM_014279		138011390	1	tier1	-	no_errors	ENST00000371793	ensembl	human	known	74_37	missense	58.33	5	7	SNP	1.000	A	A	138011390	G	A	138011390	3	1	149	1	0	0	0	0	1	0	0	0	10891	1145	40	1	802	1	OLFM1	9	138011390	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	387906	138011390	3202041	109	37960											
KIAA0649	9858	genome.wustl.edu	37	chr9	138379062	138379062	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggggtcccacatctggcCgaagggcttcgaggcacaga	9	5	16	11	2	1	1	0	0	1	1	3	3	2	1	2	6	0	2	2	6	1	1	rs372949310		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:138379062C>T	ENST00000356818.2	+	4	3255	c.2706C>T	c.(2704-2706)gcC>gcT	p.A902A	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.A902A|PPP1R26_ENST00000401470.3_Silent_p.A902A|PPP1R26_ENST00000605660.1_Silent_p.A902A|PPP1R26_ENST00000604351.1_Silent_p.A902A	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	902					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CACATCTGGCCGAAGGGCTTC	0.706																																																	0								C		1,4217		0,1,2108	32	39	37		2706	-9	0	9		37	0,8284		0,0,4142	no	coding-synonymous	KIAA0649	NM_014811.3		0,1,6250	TT,TC,CC		0.0,0.0237,0.0080		902/1210	138379062	1,12501	2109	4142	6251	SO:0001819	synonymous_variant	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2706C>T	9.37:g.138379062C>T			Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	NULL	p.A902	ENST00000356818.2	37	c.2706	CCDS6988.1	9																																																																																			PPP1R26	-	NULL	ENSG00000196422		0.706	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	-	0	35	0	C	NM_014811		138379062	1	tier1	-	no_errors	ENST00000356818	ensembl	human	known	74_37	silent	25.64	29	10	SNP	0.000	T	T	138379062	C	T	138379062	2	4	149	1	0	0	0	0	0	0	0	1	8214	639	23	1		1	KIAA0649	9	138379062	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	367672	138379062	2834369	110	37961											
GPSM1	26086	genome.wustl.edu	37	chr9	139243168	139243168	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccagacccaagaggacGcagaggctgagcgcggagac	11	1	18	11	3	0	5	0	1	0	4	0	7	0	6	2	5	1	2	2	5	1	0	rs138778632	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:139243168G>T	ENST00000440944.1	+	10	1447	c.1227G>T	c.(1225-1227)acG>acT	p.T409T		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	409	Interaction with STK11/LKB1. {ECO:0000250}.|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)		CCAAGAGGACGCAGAGGCTGA	0.687																																																	0													46	44	44					9																	139243168		2198	4298	6496	SO:0001819	synonymous_variant	0			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.1227G>T	9.37:g.139243168G>T			A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	pfam_GoLoco_motif,pfam_TPR_1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T409	ENST00000440944.1	37	c.1227	CCDS48055.1	9																																																																																			GPSM1	-	NULL	ENSG00000160360		0.687	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM1	HGNC	protein_coding		-	0	124	0	G	NM_015597		139243168	1	tier1	-	no_errors	ENST00000440944	ensembl	human	known	74_37	silent	25.00	87	29	SNP	0.852	T	T	139243168	G	T	139243168	2	4	149	1	0	0	0	0	0	0	0	1	6761	1074	38	2		2	GPSM1	9	139243168	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	864106	139243168	1970263	111	37962											
CACNA1B	774	genome.wustl.edu	37	chr9	140772632	140772632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcttcagcgaggacaacGtcgtccgcaaatacgcgaag	11	7	11	12	7	2	0	1	0	1	0	5	3	3	1	1	1	3	1	1	1	4	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr9:140772632G>A	ENST00000371372.1	+	1	392	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	CACNA1B_ENST00000371355.4_Missense_Mutation_p.V83I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V83I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V83I|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V83I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	83					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)	CGAGGACAACGTCGTCCGCAA	0.716																																																	0													31	34	33					9																	140772632		2045	4193	6238	SO:0001583	missense	0			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.247G>A	9.37:g.140772632G>A	ENSP00000360423:p.Val83Ile		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.V83I	ENST00000371372.1	37	c.247	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	6.749	0.507023	0.12883	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	3.63	2.71	0.32032	.	0.319524	0.25366	U	0.031192	T	0.09905	0.0243	N	0.02420	-0.555	0.80722	D	1	B	0.12013	0.005	B	0.04013	0.001	T	0.16748	-1.0392	10	0.06494	T	0.89	.	9.4271	0.38586	0.1073:0.0:0.8927:0.0	.	83	B1AQK6	.	I	83	ENSP00000360423:V83I;ENSP00000277551:V83I;ENSP00000360414:V83I;ENSP00000360408:V83I;ENSP00000360406:V83I	ENSP00000277551:V83I	V	+	1	0	CACNA1B	139892453	0.729000	0.28090	1.000000	0.80357	0.980000	0.70556	0.136000	0.15974	1.585000	0.49928	0.298000	0.19748	GTC	CACNA1B	-	NULL	ENSG00000148408		0.716	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1		0	30	0	G	NM_000718		140772632	1			no_errors	ENST00000371355	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	A	A	140772632	G	A	140772632	3	1	149	1	0	0	0	0	1	0	0	0	2546	1145	40	1	249	1	CACNA1B	9	140772632	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	1529464	140772632	440799	112	37963											
CAMK1D	57118	genome.wustl.edu	37	chr10	12867592	12867592	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcatttaatgccacggcCgtcgtcagacatatgagaaa	14	8	9	10	3	1	2	1	1	0	2	2	3	1	2	2	1	2	1	2	1	4	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:12867592C>T	ENST00000378847.3	+	10	1279	c.942C>T	c.(940-942)gcC>gcT	p.A314A	CAMK1D_ENST00000378845.1_Silent_p.A314A	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	314	Autoinhibitory domain. {ECO:0000250}.|Calmodulin-binding. {ECO:0000250}.				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)		ATGCCACGGCCGTCGTCAGAC	0.433																																																	0													96	93	94					10																	12867592		2203	4300	6503	SO:0001819	synonymous_variant	0			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.942C>T	10.37:g.12867592C>T			B0YIY0|Q9HD31	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A314	ENST00000378847.3	37	c.942	CCDS7091.1	10																																																																																			CAMK1D	-	superfamily_Kinase-like_dom	ENSG00000183049		0.433	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1D	HGNC	protein_coding	OTTHUMT00000046820.1	-	0	22	0	C	NM_020397		12867592	1	tier1	-	no_errors	ENST00000378847	ensembl	human	known	74_37	silent	20.00	28	7	SNP	0.427	T	T	12867592	C	T	12867592	2	4	149	1	0	0	0	0	0	0	0	1	2604	639	23	1		1	CAMK1D	10	12867592	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09		12867592	122667155	113	37964											
ITGA8	8516	genome.wustl.edu	37	chr10	15688907	15688907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactaccgaatctcccaaacGtctcggtgccagtgaggatc	10	8	9	14	3	2	1	0	1	2	0	5	3	2	2	3	2	3	0	3	2	3	1	rs141621826		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:15688907G>A	ENST00000378076.3	-	12	1498	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	382					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						TCTCCCAAACGTCTCGGTGCC	0.473																																																	0								G	MET/THR	0,4406		0,0,2203	118	106	110		1145	-0.8	0	10	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA8	NM_003638.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	382/1064	15688907	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1145C>T	10.37:g.15688907G>A	ENSP00000367316:p.Thr382Met		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.T382M	ENST00000378076.3	37	c.1145	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	6.801	0.516882	0.13005	0.0	1.16E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.60424	0.19	5.35	-0.771	0.11002	.	0.566735	0.20373	N	0.093607	T	0.43545	0.1252	L	0.38175	1.15	0.09310	N	0.99999	P;P	0.47962	0.903;0.844	B;B	0.41764	0.366;0.201	T	0.41179	-0.9523	10	0.46703	T	0.11	.	10.0573	0.42252	0.7223:0.0:0.2777:0.0	.	367;382	F5H818;P53708	.;ITA8_HUMAN	M	382;367	ENSP00000367316:T382M	ENSP00000367316:T382M	T	-	2	0	ITGA8	15728913	0.987000	0.35691	0.001000	0.08648	0.017000	0.09413	2.527000	0.45615	-0.123000	0.11745	0.563000	0.77884	ACG	ITGA8	-	smart_Int_alpha_beta-p	ENSG00000077943		0.473	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	-	0	45	0	G	NM_003638		15688907	-1	tier1	rs141621826	no_errors	ENST00000378076	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.156	A	A	15688907	G	A	15688907	3	1	149	1	0	0	0	0	1	0	0	0	7909	1145	40	1	2122	1	ITGA8	10	15688907	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	2821315	15688907	119845840	114	37965											
NRP1	8829	genome.wustl.edu	37	chr10	33545244	33545244	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatgaataaacactgacCttctgagacactgctctgca	15	9	6	11	0	2	3	0	3	2	1	2	4	2	3	1	0	3	2	1	0	5	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:33545244C>G	ENST00000265371.4	-	6	1339	c.814G>C	c.(814-816)Gat>Cat	p.D272H	NRP1_ENST00000395995.1_Splice_Site_p.D272H|NRP1_ENST00000374875.1_Splice_Site_p.D91H|NRP1_ENST00000374867.2_Splice_Site_p.D272H|NRP1_ENST00000374821.5_Splice_Site_p.D272H|NRP1_ENST00000374816.3_Splice_Site_p.D272H|NRP1_ENST00000374822.4_Splice_Site_p.D272H|NRP1_ENST00000374823.5_Splice_Site_p.D272H|NRP1_ENST00000432372.2_Splice_Site_p.D272H			O14786	NRP1_HUMAN	neuropilin 1	272					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AAACACTGACCTTCTGAGACA	0.443																																					Melanoma(104;886 1489 44640 45944 51153)												0													118	113	115					10																	33545244		2203	4300	6503	SO:0001630	splice_region_variant	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.814+1G>C	10.37:g.33545244C>G			B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.D272H	ENST00000265371.4	37	c.814	CCDS7177.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.094438|4.094438	0.76870|0.76870	.|.	.|.	ENSG00000099250|ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000374818|ENST00000455749	D;D;D;D;D;D;D;D|.	0.94417|.	-2.29;-3.42;-2.29;-2.31;-2.64;-2.61;-2.66;-2.64|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72771|0.72771	0.3502|0.3502	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D|.	0.89917|.	0.998;0.97;0.999;0.964;1.0;1.0;0.998;0.999;0.996|.	D;P;D;P;D;D;D;D;D|.	0.91635|.	0.955;0.868;0.955;0.737;0.999;0.997;0.955;0.955;0.919|.	T|T	0.67860|0.67860	-0.5561|-0.5561	9|5	.|.	.|.	.|.	-26.7576|-26.7576	20.1731|20.1731	0.98165|0.98165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	272;272;272;272;272;272;272;91;272|.	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6|.	.;.;.;.;.;.;NRP1_HUMAN;.;.|.	H|T	272;91;272;272;272;272;272;272;91|72	ENSP00000265371:D272H;ENSP00000364009:D91H;ENSP00000364001:D272H;ENSP00000379317:D272H;ENSP00000363955:D272H;ENSP00000363954:D272H;ENSP00000363956:D272H;ENSP00000363949:D272H|.	.|.	D|R	-|-	1|2	0|0	NRP1|NRP1	33585250|33585250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.887000|0.887000	0.51463|0.51463	4.778000|4.778000	0.62368|0.62368	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GAT|AGA	NRP1	-	pirsf_Neuropilin	ENSG00000099250		0.443	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	-	0	16	0	C		Missense_Mutation	33545244	-1	tier1	-	no_errors	ENST00000265371	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	G	G	33545244	C	G	33545244	5	3	149	1	0	0	0	0	0	0	1	0	10699	695	24	5	2020	5	NRP1	10	33545244	Splice_Site	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	17856337	33545244	101989503	115	37966											
PARD3	56288	genome.wustl.edu	37	chr10	34420473	34420473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gctgaaattcttgcctcagaCgctgtatccgatcatgattg	9	13	9	10	2	3	3	2	2	1	1	4	4	4	3	2	0	1	3	2	0	2	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:34420473C>T	ENST00000374789.3	-	23	3792	c.3467G>A	c.(3466-3468)cGt>cAt	p.R1156H	PARD3_ENST00000350537.4_Missense_Mutation_p.R1110H|PARD3_ENST00000346874.4_Missense_Mutation_p.R1119H|PARD3_ENST00000374790.3_Missense_Mutation_p.R1096H|PARD3_ENST00000545260.1_Missense_Mutation_p.R1066H|PARD3_ENST00000374788.3_Missense_Mutation_p.R1153H|PARD3_ENST00000545693.1_Missense_Mutation_p.R1140H|PARD3_ENST00000374794.3_Missense_Mutation_p.R1044H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1156					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R1156H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGCCTCAGACGCTGTATCCG	0.433																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											205	172	183					10																	34420473		2203	4300	6503	SO:0001583	missense	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3467G>A	10.37:g.34420473C>T	ENSP00000363921:p.Arg1156His		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1156H	ENST00000374789.3	37	c.3467	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286361	0.80803	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.16897	2.37;2.35;2.44;2.44;2.37;2.31;2.36;2.38	5.81	5.81	0.92471	.	0.231023	0.43110	D	0.000619	T	0.37625	0.1010	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.997;0.998;0.998;0.998;0.999;0.998;0.997	D;P;P;P;P;D;P;P	0.67103	0.949;0.754;0.817;0.817;0.817;0.927;0.817;0.66	T	0.02444	-1.1158	10	0.72032	D	0.01	.	20.0812	0.97776	0.0:1.0:0.0:0.0	.	1044;1066;1073;1110;1140;1119;1153;1156	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	H	1140;1066;1156;1153;1119;1044;1110;1096	ENSP00000443147:R1140H;ENSP00000440857:R1066H;ENSP00000363921:R1156H;ENSP00000363920:R1153H;ENSP00000340591:R1119H;ENSP00000363926:R1044H;ENSP00000311986:R1110H;ENSP00000363922:R1096H	ENSP00000340591:R1119H	R	-	2	0	PARD3	34460479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.663000	0.54518	2.752000	0.94435	0.557000	0.71058	CGT	PARD3	-	NULL	ENSG00000148498		0.433	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1		0	39	0	C	NM_019619		34420473	-1			no_errors	ENST00000374789	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	34420473	C	T	34420473	3	4	149	1	0	0	0	0	1	0	0	0	11482	536	19	1	615	1	PARD3	10	34420473	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	875229	34420473	101114274	116	37967											
RASGEF1A	221002	genome.wustl.edu	37	chr10	43701549	43701549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggatgctggagaagacaaCggacgtctggggcatagttt	12	8	15	6	2	1	2	0	0	1	2	1	5	1	4	0	5	2	3	0	5	4	2	rs531161360		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:43701549C>T	ENST00000395809.1	-	2	2522	c.16G>A	c.(16-18)Gtt>Att	p.V6I	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.V14I|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.V6I|RASGEF1A_ENST00000472864.1_5'Flank			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	6					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GAGAAGACAACGGACGTCTGG	0.647													C|||	1	0.000199681	0	0	5008	,	,		17612	0		0	False		,,,				2504	0.001																0													33	41	39					10																	43701549		2194	4294	6488	SO:0001583	missense	0			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.16G>A	10.37:g.43701549C>T	ENSP00000379154:p.Val6Ile		Q8TBF1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V6I	ENST00000395809.1	37	c.16	CCDS7202.2	10	.	.	.	.	.	.	.	.	.	.	C	5.166	0.216225	0.09810	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.70869	-0.49;-0.52;-0.52	3.52	2.62	0.31277	.	0.415820	0.21615	N	0.071740	T	0.44008	0.1273	N	0.08118	0	0.09310	N	0.999999	B;B	0.09022	0.001;0.002	B;B	0.08055	0.002;0.003	T	0.19516	-1.0303	10	0.18276	T	0.48	.	6.9132	0.24346	0.0:0.8737:0.0:0.1263	.	6;14	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	I	14;6;6	ENSP00000363583:V14I;ENSP00000379155:V6I;ENSP00000379154:V6I	ENSP00000363583:V14I	V	-	1	0	RASGEF1A	43021555	0.636000	0.27207	0.239000	0.24122	0.582000	0.36321	0.621000	0.24418	1.089000	0.41292	0.655000	0.94253	GTT	RASGEF1A	-	NULL	ENSG00000198915		0.647	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	RASGEF1A	HGNC	protein_coding	OTTHUMT00000313989.1		0	37	0	C	NM_145313		43701549	-1			no_errors	ENST00000395809	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.322	T	T	43701549	C	T	43701549	3	4	149	1	0	0	0	0	1	0	0	0	13114	536	19	1	1477	1	RASGEF1A	10	43701549	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	9281076	43701549	91833198	117	37968											
ANK3	288	genome.wustl.edu	37	chr10	61832462	61832462	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tgtccttactttttgcgtgtGtgccttgttcaaattttaat	6	21	7	7	1	1	0	1	0	0	0	2	0	2	0	2	0	3	1	2	0	3	7			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:61832462G>A	ENST00000280772.2	-	37	8368	c.8177C>T	c.(8176-8178)aCa>aTa	p.T2726I	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2726					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						TTTTGCGTGTGTGCCTTGTTC	0.433																																																	0													124	123	123					10																	61832462		2203	4300	6503	SO:0001583	missense	0			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.8177C>T	10.37:g.61832462G>A	ENSP00000280772:p.Thr2726Ile		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.T2726I	ENST00000280772.2	37	c.8177	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	5.960	0.361046	0.11296	.	.	ENSG00000151150	ENST00000280772	T	0.60672	0.17	5.82	4.84	0.62591	.	0.837651	0.09988	N	0.730135	T	0.28067	0.0692	N	0.01874	-0.695	0.51482	D	0.999923	B	0.02656	0.0	B	0.01281	0.0	T	0.25152	-1.0140	10	0.33141	T	0.24	.	3.218	0.06705	0.5722:0.0:0.4278:0.0	.	2726	Q12955	ANK3_HUMAN	I	2726	ENSP00000280772:T2726I	ENSP00000280772:T2726I	T	-	2	0	ANK3	61502468	0.931000	0.31567	0.013000	0.15412	0.612000	0.37316	5.713000	0.68415	1.369000	0.46134	0.555000	0.69702	ACA	ANK3	-	NULL	ENSG00000151150		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0	42	0	G	NM_020987		61832462	-1			no_errors	ENST00000280772	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.083	A	A	61832462	G	A	61832462	3	1	149	1	0	0	0	0	1	0	0	0	622	1377	48	3	5297	3	ANK3	10	61832462	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	18130913	61832462	73702285	118	37969											
KCNMA1	3778	genome.wustl.edu	37	chr10	78839253	78839253	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctaccttgttgtgatactGcagcatttgagtgatgattc	8	16	9	8	0	0	4	0	4	0	0	2	4	1	4	2	0	4	3	2	0	2	6			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:78839253G>A	ENST00000286628.8	-	13	1578	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	KCNMA1_ENST00000404857.1_Nonsense_Mutation_p.Q527*|KCNMA1_ENST00000354353.5_Nonsense_Mutation_p.Q527*|KCNMA1_ENST00000286627.5_Nonsense_Mutation_p.Q527*|KCNMA1_ENST00000484507.1_5'UTR|KCNMA1_ENST00000372440.1_Nonsense_Mutation_p.Q527*|KCNMA1_ENST00000406533.3_Nonsense_Mutation_p.Q527*|KCNMA1_ENST00000404771.3_Nonsense_Mutation_p.Q527*|KCNMA1_ENST00000372443.1_Nonsense_Mutation_p.Q527*	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	527	RCK N-terminal.				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)	TTGTGATACTGCAGCATTTGA	0.463																																																	0													138	116	124					10																	78839253		2203	4300	6503	SO:0001587	stop_gained	0			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.1579C>T	10.37:g.78839253G>A	ENSP00000286628:p.Gln527*		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.Q527*	ENST00000286628.8	37	c.1579		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.735651|8.735651	0.98933|0.98933	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208;ENST00000450795|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.81936|.	0.4928|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.83267|.	-0.0045|.	3|.	.|0.72032	.|D	.|0.01	-11.3248|-11.3248	19.8706|19.8706	0.96849|0.96849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	515;205;19|527;464;462;501;464;527;527;501;527;527;527;309	.|.	.|ENSP00000286627:Q527X	A|Q	-|-	2|1	0|0	KCNMA1|KCNMA1	78509259|78509259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.837000|9.837000	0.99465|0.99465	2.691000|2.691000	0.91804|0.91804	0.563000|0.563000	0.77884|0.77884	GCA|CAG	KCNMA1	-	pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu	ENSG00000156113		0.463	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0	44	0	G	NM_002247		78839253	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	nonsense	12.50	28	4	SNP	1.000	A	A	78839253	G	A	78839253	4	1	149	1	0	0	0	0	0	1	0	0	8100	1328	46	3	2367	3	KCNMA1	10	78839253	Nonsense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	17006791	78839253	56695494	119	37970											
SLK	9748	genome.wustl.edu	37	chr10	105762238	105762238	+	Silent	SNP	T	T	C	0	1	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	cccaagcttgaaaatctgccTgacacagaagaccaagaaac	17	5	7	12	0	1	5	0	2	1	3	1	5	1	5	3	0	3	1	3	0	6	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:105762238T>C	ENST00000369755.3	+	9	1847	c.1302T>C	c.(1300-1302)ccT>ccC	p.P434P	SLK_ENST00000335753.4_Silent_p.P434P	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	434	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)		AAAATCTGCCTGACACAGAAG	0.368																																					NSCLC(111;540 1651 1927 4474 17706)												0													106	117	113					10																	105762238		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1302T>C	10.37:g.105762238T>C			D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Silent	SNP	pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_dom	p.P434	ENST00000369755.3	37	c.1302	CCDS7553.1	10																																																																																			SLK	-	superfamily_Kinase-like_dom	ENSG00000065613		0.368	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1		0	23	0	T	NM_014720		105762238	1			no_errors	ENST00000369755	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.001	C	C	105762238	T	C	105762238	2	2	149	1	0	0	0	0	0	0	0	1	14793	1567	55	4		4	SLK	10	105762238	Silent	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	26922985	105762238	29772509	120	37971											
C10orf79	80217	genome.wustl.edu	37	chr10	105974083	105974083	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcactgtacttggacttGataagcacagctggcgccag	9	9	11	12	2	1	1	1	1	0	0	1	2	1	2	1	2	3	4	1	2	2	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:105974083G>T	ENST00000278064.2	-	4	633	c.308C>A	c.(307-309)tCa>tAa	p.S103*	WDR96_ENST00000428666.1_Nonsense_Mutation_p.S173*|WDR96_ENST00000369720.1_Nonsense_Mutation_p.S103*|WDR96_ENST00000357060.3_Nonsense_Mutation_p.S173*|WDR96_ENST00000369719.1_Nonsense_Mutation_p.S103*														p.S173*(1)		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						ACTTGGACTTGATAAGCACAG	0.443																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											197	176	183					10																	105974083		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000278064.2:c.308C>A	10.37:g.105974083G>T	ENSP00000278064:p.Ser103*			Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.S173*	ENST00000278064.2	37	c.518		10	.	.	.	.	.	.	.	.	.	.	G	38	7.143096	0.98092	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	.	.	.	5.81	5.81	0.92471	.	0.000000	0.36134	N	0.002778	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.367	0.66812	0.0:0.0:0.8513:0.1487	.	.	.	.	X	173;173;103;103;103	.	ENSP00000278064:S103X	S	-	2	0	WDR96	105964073	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	3.393000	0.52544	2.761000	0.94854	0.655000	0.94253	TCA	WDR96	-	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	ENSG00000197748		0.443	WDR96-003	KNOWN	basic	protein_coding	WDR96	HGNC	protein_coding	OTTHUMT00000050200.1		0	21	0	G			105974083	-1			no_errors	ENST00000357060	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	T	T	105974083	G	T	105974083	4	4	149	1	0	0	0	0	0	1	0	0	1623	1294	45	3	4619	3	C10orf79	10	105974083	Nonsense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	211845	105974083	29560664	121	37972											
PDZD8	118987	genome.wustl.edu	37	chr10	119134124	119134124	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaccaggtccacgtcgatGgccaggtggaagcccccgtt	9	6	13	13	3	0	1	0	0	0	1	2	3	1	2	5	4	1	1	5	4	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:119134124G>A	ENST00000334464.5	-	1	854	c.615C>T	c.(613-615)gcC>gcT	p.A205A		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	205					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)		CCACGTCGATGGCCAGGTGGA	0.672																																																	0													38	29	32					10																	119134124		2197	4293	6490	SO:0001819	synonymous_variant	0			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.615C>T	10.37:g.119134124G>A			Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.A205	ENST00000334464.5	37	c.615	CCDS7600.1	10																																																																																			PDZD8	-	NULL	ENSG00000165650		0.672	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1		0	12	0	G	NM_173791		119134124	-1			no_errors	ENST00000334464	ensembl	human	known	74_37	silent	25.00	6	2	SNP	1.000	A	A	119134124	G	A	119134124	2	1	149	1	0	0	0	0	0	0	0	1	11744	1335	47	3		3	PDZD8	10	119134124	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	13160041	119134124	16400623	122	37973											
LHPP	64077	genome.wustl.edu	37	chr10	126301884	126301884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgatgggtacgtggacaaCctcgcagaggcagtggacct	9	7	15	10	2	0	2	0	1	0	1	1	4	0	4	2	4	2	4	2	4	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:126301884C>T	ENST00000368842.5	+	7	796	c.768C>T	c.(766-768)aaC>aaT	p.N256N	LHPP_ENST00000482963.1_Intron|LHPP_ENST00000368839.1_3'UTR	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	256					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		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;0.163)|Colorectal(40;0.187)		ACGTGGACAACCTCGCAGAGG	0.662																																					GBM(165;1980 2715 15999 18454)												0													141	116	124					10																	126301884		2203	4300	6503	SO:0001819	synonymous_variant	0			AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.768C>T	10.37:g.126301884C>T			B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Silent	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA	p.N256	ENST00000368842.5	37	c.768	CCDS7640.1	10																																																																																			LHPP	-	superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2	ENSG00000107902		0.662	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHPP	HGNC	protein_coding	OTTHUMT00000050870.1	-	0	106	0	C	NM_022126		126301884	1	tier1	-	no_errors	ENST00000368842	ensembl	human	known	74_37	silent	20.83	76	20	SNP	1.000	T	T	126301884	C	T	126301884	2	4	149	1	0	0	0	0	0	0	0	1	8798	506	18	3		3	LHPP	10	126301884	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	7167760	126301884	9232863	123	37974											
LRRC27	80313	genome.wustl.edu	37	chr10	134158106	134158106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctatccagcgcttcctgCggatgtgggcagtagaacac	8	9	13	11	2	0	1	0	0	0	1	2	2	2	2	2	3	3	4	2	3	3	3	rs533190111		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:134158106C>T	ENST00000368614.3	+	5	610	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	LRRC27_ENST00000368613.4_Missense_Mutation_p.R169W|LRRC27_ENST00000368612.1_Missense_Mutation_p.R107W|LRRC27_ENST00000368615.3_Missense_Mutation_p.R169W|LRRC27_ENST00000392638.2_Missense_Mutation_p.R169W|LRRC27_ENST00000368610.3_Missense_Mutation_p.R107W|LRRC27_ENST00000432555.2_Missense_Mutation_p.R42W|LRRC27_ENST00000356571.4_Missense_Mutation_p.A149V|LRRC27_ENST00000344079.5_Missense_Mutation_p.R169W	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	169										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCGCTTCCTGCGGATGTGGGC	0.488																																																	0													133	131	132					10																	134158106		2203	4300	6503	SO:0001583	missense	0			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.505C>T	10.37:g.134158106C>T	ENSP00000357603:p.Arg169Trp		A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R169W	ENST00000368614.3	37	c.505	CCDS31316.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.66|10.66	1.411282|1.411282	0.25465|0.25465	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000356571|ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T|T;T;T;T;T;T;T;T	0.63255|0.60424	-0.03|2.34;2.26;2.26;2.26;2.26;4.05;4.05;0.19	5.16|5.16	3.32|3.32	0.38043|0.38043	.|.	.|0.193128	.|0.25839	.|N	.|0.027973	T|T	0.64080|0.64080	0.2566|0.2566	L|L	0.55213|0.55213	1.73|1.73	0.25684|0.25684	N|N	0.985764|0.985764	.|D;P;P;D;D	.|0.71674	.|0.997;0.56;0.597;0.995;0.998	.|P;B;B;P;P	.|0.57283	.|0.817;0.112;0.215;0.609;0.721	T|T	0.57556|0.57556	-0.7791|-0.7791	7|10	0.51188|0.87932	T|D	0.08|0	-17.8178|-17.8178	10.3284|10.3284	0.43807|0.43807	0.0:0.8878:0.0:0.1122|0.0:0.8878:0.0:0.1122	.|.	.|169;42;107;169;169	.|Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.|.;.;.;LRC27_HUMAN;.	V|W	149|169;169;169;169;169;107;107;42	ENSP00000348978:A149V|ENSP00000357604:R169W;ENSP00000376413:R169W;ENSP00000342641:R169W;ENSP00000357603:R169W;ENSP00000357602:R169W;ENSP00000357601:R107W;ENSP00000357599:R107W;ENSP00000407949:R42W	ENSP00000348978:A149V|ENSP00000342641:R169W	A|R	+|+	2|1	0|2	LRRC27|LRRC27	134008096|134008096	0.210000|0.210000	0.23517|0.23517	0.415000|0.415000	0.26534|0.26534	0.150000|0.150000	0.21749|0.21749	0.774000|0.774000	0.26675|0.26675	0.690000|0.690000	0.31570|0.31570	0.655000|0.655000	0.94253|0.94253	GCG|CGG	LRRC27	-	NULL	ENSG00000148814		0.488	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC27	HGNC	protein_coding	OTTHUMT00000051058.2	-	0	67	0	C	XM_290462		134158106	1	tier1	-	no_errors	ENST00000368613	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.609	T	T	134158106	C	T	134158106	3	4	149	1	0	0	0	0	1	0	0	0	9016	759	27	1	519	1	LRRC27	10	134158106	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	7856222	134158106	1376641	124	37975											
KNDC1	85442	genome.wustl.edu	37	chr10	134974017	134974017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggatctttacgaggaggacGgcaaagacctggacttctac	11	8	12	10	3	2	1	0	0	2	1	2	6	2	5	1	5	2	1	1	5	3	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr10:134974017G>A	ENST00000304613.3	+	1	67	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	KNDC1_ENST00000368572.2_Missense_Mutation_p.G16S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	16					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)		CGAGGAGGACGGCAAAGACCT	0.756																																																	0													15	15	15					10																	134974017		2166	4268	6434	SO:0001583	missense	0			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.46G>A	10.37:g.134974017G>A	ENSP00000304437:p.Gly16Ser		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G16S	ENST00000304613.3	37	c.46	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	.	16.85	3.237914	0.58886	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.11821	2.74;2.74	2.32	1.35	0.21983	.	0.129013	0.26463	U	0.024235	T	0.09291	0.0229	L	0.51422	1.61	0.22562	N	0.998984	P	0.39181	0.663	B	0.27715	0.082	T	0.24225	-1.0166	10	0.87932	D	0	-10.5459	6.0444	0.19752	0.0:0.0:0.6951:0.3048	.	16	Q76NI1	VKIND_HUMAN	S	16	ENSP00000304437:G16S;ENSP00000357561:G16S	ENSP00000304437:G16S	G	+	1	0	KNDC1	134824007	0.001000	0.12720	0.414000	0.26521	0.505000	0.33919	0.450000	0.21762	0.490000	0.27771	0.174000	0.16983	GGC	KNDC1	-	NULL	ENSG00000171798		0.756	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	-	0	36	0	G	NM_152643		134974017	1	tier1	-	no_errors	ENST00000368572	ensembl	human	known	74_37	missense	44.68	26	21	SNP	0.784	A	A	134974017	G	A	134974017	3	1	149	1	0	0	0	0	1	0	0	0	8453	1116	39	1	48	1	KNDC1	10	134974017	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	815911	134974017	560730	125	37976											
MUC6	4588	genome.wustl.edu	37	chr11	1027748	1027748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaaggagcaggcgtgtaCgtagtcgcccagggcggcac	8	4	16	13	5	0	0	0	0	0	0	1	1	0	1	2	4	2	5	2	4	3	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:1027748C>T	ENST00000421673.2	-	16	1968	c.1918G>A	c.(1918-1920)Gta>Ata	p.V640I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	640					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)		CAGGCGTGTACGTAGTCGCCC	0.657																																																	0													27	33	31					11																	1027748		2106	4212	6318	SO:0001583	missense	0			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.1918G>A	11.37:g.1027748C>T	ENSP00000406861:p.Val640Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.V640I	ENST00000421673.2	37	c.1918	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397824	0.42512	.	.	ENSG00000184956	ENST00000421673	T	0.77358	-1.09	4.18	4.18	0.49190	Uncharacterised domain, cysteine-rich (2);	0.702209	0.10462	U	0.671888	T	0.78400	0.4277	L	0.53561	1.675	0.19300	N	0.999975	D	0.53462	0.96	P	0.44860	0.462	T	0.71892	-0.4455	10	0.56958	D	0.05	.	17.0569	0.86536	0.0:1.0:0.0:0.0	.	640	Q6W4X9	MUC6_HUMAN	I	640	ENSP00000406861:V640I	ENSP00000406861:V640I	V	-	1	0	MUC6	1017748	0.597000	0.26874	0.016000	0.15963	0.002000	0.02628	5.570000	0.67398	2.341000	0.79615	0.484000	0.47621	GTA	MUC6	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000184956		0.657	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0	35	0	C	XM_290540		1027748	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.545	T	T	1027748	C	T	1027748	3	4	149	1	0	0	0	0	1	0	0	0	10018	536	19	1	5473	1	MUC6	11	1027748	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09		1027748	133978768	126	37977											
NUP98	4928	genome.wustl.edu	37	chr11	3723694	3723694	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcaagaaatgtgactcacgGtttaacagctactggattgg	13	11	10	7	1	2	2	2	1	0	1	2	3	2	3	0	3	3	2	0	3	4	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:3723694G>A	ENST00000324932.7	-	23	3931	c.3511C>T	c.(3511-3513)Ccc>Tcc	p.P1171S	NUP98_ENST00000355260.3_Splice_Site_p.P1171S|NUP98_ENST00000359171.4_Splice_Site_p.P1171S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1188					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)		GTGACTCACGGTTTAACAGCT	0.418			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													123	114	117					11																	3723694		2201	4298	6499	SO:0001630	splice_region_variant	0			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.3512+1C>T	11.37:g.3723694G>A			Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.P1171S	ENST00000324932.7	37	c.3511	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	G	4.496	0.091987	0.08632	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.49	4.36	0.52297	.	0.265381	0.37906	N	0.001896	T	0.17066	0.0410	N	0.01219	-0.95	0.35245	D	0.778132	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.15065	-1.0450	9	0.09338	T	0.73	-1.6333	9.3644	0.38215	0.8489:0.0:0.1511:0.0	.	1171;1171	P52948-2;P52948-5	.;.	S	1171	.	ENSP00000316032:P1171S	P	-	1	0	NUP98	3680270	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.626000	0.46460	0.917000	0.36895	-0.339000	0.08088	CCC	NUP98	-	NULL	ENSG00000110713		0.418	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	-	0	36	0	G	NM_016320	Missense_Mutation	3723694	-1	tier1	-	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	8.51	42	4	SNP	1.000	A	A	3723694	G	A	3723694	5	1	149	1	0	0	0	0	0	0	1	0	10812	1275	44	3	1935	3	NUP98	11	3723694	Splice_Site	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	2695946	3723694	131282822	127	37978											
OR52N1	79473	genome.wustl.edu	37	chr11	5809669	5809669	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagagggaagcagatggcCacacagtggtccagggccat	11	4	15	11	1	0	2	0	0	0	2	1	3	1	3	3	4	1	2	3	4	1	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:5809669C>T	ENST00000317078.1	-	1	377	c.378G>A	c.(376-378)gtG>gtA	p.V126V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	126						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)		AGCAGATGGCCACACAGTGGT	0.507																																																	0													158	136	144					11																	5809669		2201	4296	6497	SO:0001819	synonymous_variant	0			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.378G>A	11.37:g.5809669C>T			Q6IFF6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.V126	ENST00000317078.1	37	c.378	CCDS31398.1	11																																																																																			OR52N1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181001		0.507	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N1	HGNC	protein_coding	OTTHUMT00000401142.1		0	38	0	C	NM_001001913		5809669	-1			no_errors	ENST00000317078	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.999	T	T	5809669	C	T	5809669	2	4	149	1	0	0	0	0	0	0	0	1	11166	581	21	3		3	OR52N1	11	5809669	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	2085975	5809669	129196847	128	37979											
AMBRA1	55626	genome.wustl.edu	37	chr11	46568813	46568813	+	Frame_Shift_Del	DEL	A	A	-																															ttcacctccgtaatatagatAttatggttcacatgggtgga																										TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:46568813delA	ENST00000458649.2	-	4	646	c.228delT	c.(226-228)aatfs	p.N76fs	AMBRA1_ENST00000533727.1_Frame_Shift_Del_p.N76fs|AMBRA1_ENST00000314845.3_Frame_Shift_Del_p.N76fs|AMBRA1_ENST00000426438.1_Frame_Shift_Del_p.N76fs|AMBRA1_ENST00000528950.1_Frame_Shift_Del_p.N76fs|AMBRA1_ENST00000298834.3_Frame_Shift_Del_p.N76fs|AMBRA1_ENST00000534300.1_Frame_Shift_Del_p.N76fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	76					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)		TAATATAGATATTATGGTTCA	0.448																																																	0													121	110	113					11																	46568813		2201	4299	6500	SO:0001589	frameshift_variant	0			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.228delT	11.37:g.46568813delA	ENSP00000415327:p.Asn76fs		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N76fs	ENST00000458649.2	37	c.228		11																																																																																			AMBRA1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000110497		0.448	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1		0	16	0	A	NM_017749		46568813	-1	tier1		no_errors	ENST00000458649	ensembl	human	known	74_37	frame_shift_del	40.00	6	4	DEL	1.000	-	-	46568813	A	-	46568813	7	5	149	1	0	1	0	1	0	0	0	0	565	446	16	0	3462	0	AMBRA1	11	46568813	Frame_Shift_Del	DEL	A	TCGA-R6-A8W8-01B-11D-A37C-09	40759144	46568813	88437703	129	37980											
OR4C6	219432	genome.wustl.edu	37	chr11	55432736	55432736	+	Missense_Mutation	SNP	A	A	T	1	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	tttctgctgtgtttcttgtcAtgtatgtagccacagtgctg	5	18	10	8	0	3	0	1	0	2	0	3	0	3	0	1	0	3	5	1	0	2	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:55432736A>T	ENST00000314259.3	+	1	123	c.94A>T	c.(94-96)Atg>Ttg	p.M32L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTTTCTTGTCATGTATGTAGC	0.378																																																	0													210	192	198					11																	55432736		2200	4296	6496	SO:0001583	missense	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.94A>T	11.37:g.55432736A>T	ENSP00000324769:p.Met32Leu		B2RP11|Q6IFD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M32L	ENST00000314259.3	37	c.94	CCDS31506.1	11	.	.	.	.	.	.	.	.	.	.	A	9.056	0.993278	0.19043	.	.	ENSG00000181903	ENST00000314259	T	0.00416	7.51	3.83	1.16	0.20824	.	0.466770	0.18113	N	0.151292	T	0.00178	0.0005	N	0.11000	0.08	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.31833	-0.9929	10	0.18276	T	0.48	.	1.9212	0.03307	0.5727:0.1677:0.0975:0.1621	.	32	Q8NH72	OR4C6_HUMAN	L	32	ENSP00000324769:M32L	ENSP00000324769:M32L	M	+	1	0	OR4C6	55189312	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-1.100000	0.03339	0.351000	0.24027	0.444000	0.29173	ATG	OR4C6	-	prints_GPCR_Rhodpsn	ENSG00000181903		0.378	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1		0	19	0	A	NM_001004704		55432736	1			no_errors	ENST00000314259	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.000	T	T	55432736	A	T	55432736	3	4	149	1	0	0	0	0	1	0	0	0	11091	217	8	5	96	5	OR4C6	11	55432736	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	8863923	55432736	79573780	130	37981											
GDPD4	220032	genome.wustl.edu	37	chr11	76980100	76980100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagaaagggtaatccaaCaggcacttgtagacctgaaa	18	6	10	7	0	0	4	0	1	0	3	1	4	1	4	2	2	1	3	2	2	7	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:76980100C>T	ENST00000376217.2	-	8	743	c.493G>A	c.(493-495)Gtt>Att	p.V165I	GDPD4_ENST00000315938.4_Missense_Mutation_p.V165I|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	165					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GGTAATCCAACAGGCACTTGT	0.448																																																	0													57	56	56					11																	76980100		2200	4292	6492	SO:0001583	missense	0			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.493G>A	11.37:g.76980100C>T	ENSP00000365390:p.Val165Ile		Q7Z5B0	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.V165I	ENST00000376217.2	37	c.493		11	.	.	.	.	.	.	.	.	.	.	C	0.480	-0.880401	0.02530	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.13196	2.61;2.61	5.07	-3.68	0.04463	.	1.041100	0.07532	N	0.912367	T	0.03695	0.0105	N	0.01277	-0.915	0.09310	N	1	B	0.16603	0.018	B	0.16722	0.016	T	0.44892	-0.9298	10	0.02654	T	1	-1.57	10.8111	0.46547	0.0:0.3506:0.0:0.6494	.	165	Q6W3E5-2	.	I	165	ENSP00000365390:V165I;ENSP00000320815:V165I	ENSP00000320815:V165I	V	-	1	0	GDPD4	76657748	0.003000	0.15002	0.114000	0.21550	0.923000	0.55619	-0.551000	0.06027	-0.629000	0.05575	-0.140000	0.14226	GTT	GDPD4	-	NULL	ENSG00000178795		0.448	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	HGNC	protein_coding	OTTHUMT00000382075.1	-	0	26	0	C	NM_182833		76980100	-1	tier1	-	no_errors	ENST00000376217	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.001	T	T	76980100	C	T	76980100	3	4	149	1	0	0	0	0	1	0	0	0	6352	478	17	3	1105	3	GDPD4	11	76980100	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	21547364	76980100	58026416	131	37982											
FUT4	2526	genome.wustl.edu	37	chr11	94278596	94278596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggcgcaacgcgttgctcGctggggcggtgccggtggtg	2	9	19	11	6	1	0	0	0	1	0	2	0	1	0	1	6	3	4	1	6	1	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:94278596G>A	ENST00000358752.2	+	1	1580	c.1297G>A	c.(1297-1299)Gct>Act	p.A433T	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)	433					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)	p.A433T(1)		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)				CGCGTTGCTCGCTGGGGCGGT	0.632																																																	1	Substitution - Missense(1)	endometrium(1)											40	38	39					11																	94278596		2200	4297	6497	SO:0001583	missense	0				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.1297G>A	11.37:g.94278596G>A	ENSP00000351602:p.Ala433Thr		B2RMS0	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.A433T	ENST00000358752.2	37	c.1297	CCDS8301.1	11	.	.	.	.	.	.	.	.	.	.	g	17.50	3.405008	0.62288	.	.	ENSG00000196371	ENST00000358752	T	0.30448	1.53	4.93	2.05	0.26809	.	0.071348	0.56097	U	0.000033	T	0.46600	0.1401	M	0.73372	2.23	0.22468	N	0.999077	D	0.89917	1.0	D	0.79108	0.992	T	0.28522	-1.0041	10	0.62326	D	0.03	.	4.5774	0.12241	0.2171:0.0:0.5268:0.2562	.	433	P22083	FUT4_HUMAN	T	433	ENSP00000351602:A433T	ENSP00000351602:A433T	A	+	1	0	FUT4	93918244	0.880000	0.30214	0.058000	0.19502	0.560000	0.35617	1.534000	0.36051	0.234000	0.21139	-0.258000	0.10820	GCT	FUT4	-	pfam_Glyco_trans_10	ENSG00000196371		0.632	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT4	HGNC	protein_coding	OTTHUMT00000396327.2		0	61	0	G	NM_002033		94278596	1			no_errors	ENST00000358752	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.338	A	A	94278596	G	A	94278596	3	1	149	1	0	0	0	0	1	0	0	0	6130	1087	38	1	1299	1	FUT4	11	94278596	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	17298496	94278596	40727920	132	37983											
ZBTB16	7704	genome.wustl.edu	37	chr11	114118002	114118002	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccacaaacgcatccacacGggtgagaaaccctacgagtg	14	4	10	13	3	0	1	0	1	0	1	1	3	1	1	3	1	4	1	3	1	3	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:114118002G>A	ENST00000335953.4	+	6	2087	c.1707G>A	c.(1705-1707)acG>acA	p.T569T	ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Silent_p.T569T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	569					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)		GCATCCACACGGGTGAGAAAC	0.577																																																	0													102	81	88					11																	114118002		2201	4296	6497	SO:0001819	synonymous_variant	0			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.1707G>A	11.37:g.114118002G>A			Q8TAL4	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T569	ENST00000335953.4	37	c.1707	CCDS8367.1	11																																																																																			ZBTB16	-	pfscan_Znf_C2H2	ENSG00000109906		0.577	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	-	0	29	0	G	NM_006006		114118002	1	tier1	-	no_errors	ENST00000335953	ensembl	human	known	74_37	silent	23.33	23	7	SNP	0.139	A	A	114118002	G	A	114118002	2	1	149	1	0	0	0	0	0	0	0	1	17574	1103	39	1		1	ZBTB16	11	114118002	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	19839406	114118002	20888514	133	37984											
ZBTB16	7704	genome.wustl.edu	37	chr11	114118040	114118040	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcaatggctgtggcaagaAgttcagcctcaagcatcagc	11	8	12	10	0	3	1	3	0	0	1	3	1	3	1	1	2	4	5	1	2	4	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:114118040A>C	ENST00000335953.4	+	6	2125	c.1745A>C	c.(1744-1746)aAg>aCg	p.K582T	ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.K582T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	582					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)		TGTGGCAAGAAGTTCAGCCTC	0.597																																																	0													98	77	84					11																	114118040		2201	4296	6497	SO:0001583	missense	0			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.1745A>C	11.37:g.114118040A>C	ENSP00000338157:p.Lys582Thr		Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K582T	ENST00000335953.4	37	c.1745	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	a	15.76	2.929207	0.52759	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.16597	2.33;2.33	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.065068	0.64402	D	0.000012	T	0.16514	0.0397	N	0.01535	-0.81	0.54753	D	0.999983	D	0.76494	0.999	D	0.87578	0.998	T	0.51949	-0.8640	10	0.20046	T	0.44	.	15.7234	0.77732	1.0:0.0:0.0:0.0	.	582	Q05516	ZBT16_HUMAN	T	582;582;459	ENSP00000338157:K582T;ENSP00000376721:K582T	ENSP00000309507:K459T	K	+	2	0	ZBTB16	113623250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.239000	0.95389	2.113000	0.64589	0.529000	0.55759	AAG	ZBTB16	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000109906		0.597	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	-	0	31	0	A	NM_006006		114118040	1	tier1	-	no_errors	ENST00000335953	ensembl	human	known	74_37	missense	39.29	17	11	SNP	1.000	C	C	114118040	A	C	114118040	3	2	149	1	0	0	0	0	1	0	0	0	17574	72	3	4	1763	4	ZBTB16	11	114118040	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	38	114118040	20888476	134	37985											
TMEM136	219902	genome.wustl.edu	37	chr11	120198134	120198134	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgtttttctggttttGgtcttttcatcacaggatgg	4	21	9	7	0	4	0	2	0	2	0	5	1	5	1	1	4	0	2	1	4	0	7			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr11:120198134G>T	ENST00000375095.2	+	2	240				TMEM136_ENST00000529187.1_Missense_Mutation_p.W17L|TMEM136_ENST00000314475.2_Missense_Mutation_p.W17L|TMEM136_ENST00000531346.1_Intron	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136							integral component of membrane (GO:0016021)		p.W17*(1)		endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		TTCTGGTTTTGGTCTTTTCAT	0.413																																																	1	Substitution - Nonsense(1)	ovary(1)											178	165	169					11																	120198134		2203	4299	6502	SO:0001627	intron_variant	0			BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.-1-16G>T	11.37:g.120198134G>T			B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.W17L	ENST00000375095.2	37	c.50	CCDS55793.1	11	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787243	0.31593	.	.	ENSG00000181264	ENST00000314475;ENST00000529187	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07927	-1.0747	7	0.27082	T	0.32	.	7.7709	0.29008	0.0808:0.0:0.7133:0.2059	.	17;17	Q6ZRR5-3;Q6ZRR5-4	.;.	L	17	.	ENSP00000312672:W17L	W	+	2	0	TMEM136	119703344	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	2.756000	0.47549	2.629000	0.89072	0.655000	0.94253	TGG	TMEM136	-	NULL	ENSG00000181264		0.413	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TMEM136	HGNC	protein_coding	OTTHUMT00000388045.1		0	47	0	G	NM_174926		120198134	1			no_errors	ENST00000314475	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.362	T	T	120198134	G	T	120198134	1	4	149	0	1	0	0	0	0	0	0	0	16099	1357	47	3		3	TMEM136	11	120198134	Intron	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	6080094	120198134	14808382	135	37986											
VWF	7450	genome.wustl.edu	37	chr12	6219637	6219637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgacagcaggacttgaaaGttgccgctgccatcgatcct	9	10	10	12	2	1	2	0	2	1	0	3	4	2	3	3	1	3	3	3	1	1	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:6219637G>T	ENST00000261405.5	-	5	689	c.435C>A	c.(433-435)aaC>aaA	p.N145K	VWF_ENST00000572068.1_Missense_Mutation_p.N182K	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	145	VWFD 1. {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)	GGACTTGAAAGTTGCCGCTGC	0.502																																																	0													130	131	131					12																	6219637		2203	4300	6503	SO:0001583	missense	0				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.435C>A	12.37:g.6219637G>T	ENSP00000261405:p.Asn145Lys		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.N145K	ENST00000261405.5	37	c.435	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	15.71	2.914931	0.52546	.	.	ENSG00000110799	ENST00000261405	T	0.59364	0.27	5.81	2.93	0.34026	von Willebrand factor, type D domain (3);	0.374066	0.20205	N	0.097002	T	0.67942	0.2947	M	0.65498	2.005	0.49130	D	0.999752	D;D;D	0.69078	0.988;0.997;0.997	P;D;D	0.77004	0.85;0.966;0.989	T	0.62709	-0.6797	10	0.38643	T	0.18	.	5.8903	0.18909	0.2839:0.1303:0.5859:0.0	.	145;182;145	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	K	145	ENSP00000261405:N145K	ENSP00000261405:N145K	N	-	3	2	VWF	6089898	1.000000	0.71417	0.982000	0.44146	0.863000	0.49368	1.617000	0.36943	0.343000	0.23821	0.655000	0.94253	AAC	VWF	-	pirsf_VWF,pfam_VWF_type-D,smart_VWF_type-D	ENSG00000110799		0.502	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1		0	20	0	G	NM_000552		6219637	-1			no_errors	ENST00000261405	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.997	T	T	6219637	G	T	6219637	3	4	149	1	0	0	0	0	1	0	0	0	17295	1020	36	3	8198	3	VWF	12	6219637	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09		6219637	127632258	136	37987											
PLEKHG6	55200	genome.wustl.edu	37	chr12	6424739	6424739	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggagatgagccaggagctctGccaccaacaggaggccctgt	10	5	14	12	0	1	2	0	1	1	1	1	5	1	4	4	4	4	1	4	4	1	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:6424739G>T	ENST00000396988.3	+	5	709	c.479G>T	c.(478-480)tGc>tTc	p.C160F	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.C128F|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.C160F|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.C160F	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	160						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						CAGGAGCTCTGCCACCAACAG	0.567																																																	0													44	45	45					12																	6424739		2203	4300	6503	SO:0001583	missense	0			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.479G>T	12.37:g.6424739G>T	ENSP00000380185:p.Cys160Phe		Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.C160F	ENST00000396988.3	37	c.479	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628522	0.46944	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	4.78	4.78	0.61160	Dbl homology (DH) domain (2);	0.082064	0.52532	D	0.000070	T	0.59307	0.2184	L	0.27053	0.805	0.80722	D	1	B;B;D	0.61080	0.05;0.05;0.989	B;B;P	0.50490	0.015;0.022;0.642	T	0.53885	-0.8375	10	0.18710	T	0.47	-8.1314	13.1961	0.59738	0.0:0.0:1.0:0.0	.	128;160;160	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	F	160;160;160;128	ENSP00000011684:C160F;ENSP00000442836:C160F;ENSP00000380185:C160F;ENSP00000393194:C128F	ENSP00000011684:C160F	C	+	2	0	PLEKHG6	6295000	.	.	0.995000	0.50966	0.986000	0.74619	.	.	2.475000	0.83589	0.561000	0.74099	TGC	PLEKHG6	-	superfamily_DH-domain	ENSG00000008323		0.567	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1		0	23	0	G	NM_018173		6424739	1			no_errors	ENST00000011684	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T	T	6424739	G	T	6424739	3	4	149	1	0	0	0	0	1	0	0	0	12113	1319	46	3	539	3	PLEKHG6	12	6424739	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	205102	6424739	127427156	137	37988											
CLEC4A	50856	genome.wustl.edu	37	chr12	8290839	8290839	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgatgttaattgtcttGgtcctcaaaggtcagtttgt	9	16	11	5	0	3	1	2	1	1	0	4	2	4	2	1	3	0	2	1	3	3	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:8290839G>C	ENST00000229332.5	+	6	917	c.670G>C	c.(670-672)Ggt>Cgt	p.G224R	CLEC4A_ENST00000345999.3_Missense_Mutation_p.G152R|CLEC4A_ENST00000352620.3_Missense_Mutation_p.G191R|CLEC4A_ENST00000360500.3_Missense_Mutation_p.G185R	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	224	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TAATTGTCTTGGTCCTCAAAG	0.448																																																	0													231	202	212					12																	8290839		2203	4300	6503	SO:0001583	missense	0			AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"C-type lectin domain containing"	13257	protein-coding gene	gene with protein product		605306	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.670G>C	12.37:g.8290839G>C	ENSP00000229332:p.Gly224Arg		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.G224R	ENST00000229332.5	37	c.670	CCDS8590.1	12	.	.	.	.	.	.	.	.	.	.	G	2.461	-0.324128	0.05350	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.12	-2.73	0.05950	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	10.068400	0.00166	N	0.000014	T	0.11452	0.0279	N	0.21097	0.63	0.09310	N	1	B;B;B;B	0.12013	0.001;0.005;0.005;0.001	B;B;B;B	0.18263	0.007;0.013;0.021;0.013	T	0.26538	-1.0100	10	0.13470	T	0.59	.	8.2186	0.31528	0.1812:0.5835:0.2353:0.0	.	185;152;191;224	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	R	224;152;191;185	ENSP00000229332:G224R;ENSP00000344646:G152R;ENSP00000247243:G191R;ENSP00000353690:G185R	ENSP00000229332:G224R	G	+	1	0	CLEC4A	8182106	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.530000	0.00944	-0.546000	0.06216	-0.291000	0.09656	GGT	CLEC4A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000111729		0.448	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4A	HGNC	protein_coding	OTTHUMT00000400257.1	-	0	37	0	G	NM_194450		8290839	1	tier1	-	no_errors	ENST00000229332	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.000	C	C	8290839	G	C	8290839	3	2	149	1	0	0	0	0	1	0	0	0	3519	1348	47	5	692	5	CLEC4A	12	8290839	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	1866100	8290839	125561056	138	37989											
GRIN2B	2904	genome.wustl.edu	37	chr12	13769494	13769494	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcctcctccagggtcacaAtgctcagatggtcatcctcc	7	10	9	15	0	3	1	3	0	0	1	7	1	7	1	5	2	2	1	5	2	1	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:13769494A>G	ENST00000609686.1	-	5	1432	c.1223T>C	c.(1222-1224)aTt>aCt	p.I408T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	408					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)	CAGGGTCACAATGCTCAGATG	0.527																																																	0													219	194	203					12																	13769494		2203	4300	6503	SO:0001583	missense	0				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.1223T>C	12.37:g.13769494A>G	ENSP00000477455:p.Ile408Thr		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I408T	ENST00000609686.1	37	c.1223	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449865	0.84101	.	.	ENSG00000150086	ENST00000279593	T	0.07216	3.21	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07712	-1.0758	10	0.87932	D	0	.	15.6645	0.77217	1.0:0.0:0.0:0.0	.	408	Q13224	NMDE2_HUMAN	T	408	ENSP00000279593:I408T	ENSP00000279593:I408T	I	-	2	0	GRIN2B	13660761	1.000000	0.71417	0.984000	0.44739	0.955000	0.61496	9.334000	0.96470	2.086000	0.62901	0.460000	0.39030	ATT	GRIN2B	-	NULL	ENSG00000273079		0.527	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	-	0	55	0	A			13769494	-1	tier1	-	no_errors	ENST00000609686	ensembl	human	known	74_37	missense	44.19	24	19	SNP	1.000	G	G	13769494	A	G	13769494	3	3	149	1	0	0	0	0	1	0	0	0	6807	101	4	4	3267	4	GRIN2B	12	13769494	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	5478655	13769494	120082401	139	37990											
DNM1L	10059	genome.wustl.edu	37	chr12	32863935	32863935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttgacacttgtggatttgCcaggaatgaccaaggtaagg	12	11	12	6	0	0	2	0	2	0	0	0	4	0	4	2	4	1	1	2	4	3	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:32863935C>T	ENST00000549701.1	+	5	516	c.442C>T	c.(442-444)Cca>Tca	p.P148S	DNM1L_ENST00000381000.4_Missense_Mutation_p.P161S|DNM1L_ENST00000547312.1_Missense_Mutation_p.P148S|DNM1L_ENST00000553257.1_Missense_Mutation_p.P161S|DNM1L_ENST00000452533.2_Missense_Mutation_p.P148S|DNM1L_ENST00000358214.5_Missense_Mutation_p.P161S|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000266481.6_Missense_Mutation_p.P148S			O00429	DNM1L_HUMAN	dynamin 1-like	148	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGTGGATTTGCCAGGAATGAC	0.338																																																	0													112	111	111					12																	32863935		2203	4300	6503	SO:0001583	missense	0			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.442C>T	12.37:g.32863935C>T	ENSP00000450399:p.Pro148Ser		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.P161S	ENST00000549701.1	37	c.481	CCDS8729.1	12	.	.	.	.	.	.	.	.	.	.	C	30	5.051206	0.93740	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000551476;ENST00000550154;ENST00000547312;ENST00000381000	D;D;D;D;D;D;D;D;D	0.99769	-6.7;-6.7;-6.7;-6.7;-6.7;-6.7;-6.7;-6.7;-6.7	5.47	5.47	0.80525	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.99900	0.9952	H	0.99336	4.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96134	0.9095	10	0.87932	D	0	.	18.9533	0.92647	0.0:1.0:0.0:0.0	.	201;201;214;201;148	D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;DNM1L_HUMAN	S	148;214;148;161;148;161;148;131;124;148;161	ENSP00000415131:P148S;ENSP00000449089:P161S;ENSP00000450399:P148S;ENSP00000350948:P161S;ENSP00000266481:P148S;ENSP00000447845:P131S;ENSP00000447013:P124S;ENSP00000448610:P148S;ENSP00000370388:P161S	ENSP00000266479:P148S	P	+	1	0	DNM1L	32755202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.593000	0.82686	2.556000	0.86216	0.557000	0.71058	CCA	DNM1L	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	ENSG00000087470		0.338	DNM1L-003	KNOWN	basic|CCDS	protein_coding	DNM1L	HGNC	protein_coding	OTTHUMT00000404124.1	-	0	47	0	C	NM_012062		32863935	1	tier1	-	no_errors	ENST00000553257	ensembl	human	known	74_37	missense	9.30	38	4	SNP	1.000	T	T	32863935	C	T	32863935	3	4	149	1	0	0	0	0	1	0	0	0	4685	739	26	3	460	3	DNM1L	12	32863935	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	19094441	32863935	100987960	140	37991											
SYT10	341359	genome.wustl.edu	37	chr12	33560014	33560014	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtcagaagttcctgtgaAgtctttagcagggagatcta	11	11	13	6	0	3	3	1	1	2	2	4	4	4	3	1	2	1	2	1	2	4	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:33560014A>G	ENST00000228567.3	-	3	1083	c.787T>C	c.(787-789)Ttc>Ctc	p.F263L	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_Missense_Mutation_p.F82L|RP11-438D14.2_ENST00000561632.1_lincRNA	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	263	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTTCCTGTGAAGTCTTTAGCA	0.358																																																	0													59	59	59					12																	33560014		2203	4300	6503	SO:0001583	missense	0			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.787T>C	12.37:g.33560014A>G	ENSP00000228567:p.Phe263Leu		Q495U2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.F263L	ENST00000228567.3	37	c.787	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	A	12.60	1.988106	0.35036	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.67865	-0.29;-0.29	4.94	3.79	0.43588	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.43747	U	0.000535	T	0.39655	0.1086	N	0.01631	-0.79	0.53688	D	0.999979	B	0.21452	0.056	B	0.33196	0.159	T	0.16541	-1.0399	10	0.20046	T	0.44	.	10.23	0.43250	0.9205:0.0:0.0795:0.0	.	263	Q6XYQ8	SYT10_HUMAN	L	263;82	ENSP00000228567:F263L;ENSP00000438691:F82L	ENSP00000228567:F263L	F	-	1	0	SYT10	33451281	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	5.804000	0.69135	0.981000	0.38548	0.460000	0.39030	TTC	SYT10	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	ENSG00000110975		0.358	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	-	0	49	0	A	NM_198992		33560014	-1	tier1	-	no_errors	ENST00000228567	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	G	G	33560014	A	G	33560014	3	3	149	1	0	0	0	0	1	0	0	0	15513	72	3	4	804	4	SYT10	12	33560014	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	696079	33560014	100291881	141	37992											
PRICKLE1	144165	genome.wustl.edu	37	chr12	42853858	42853858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtagagtcccagaaacCgattcattcctgggttctgc	8	10	10	13	3	2	2	1	0	1	2	4	3	4	2	4	1	2	2	4	1	2	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:42853858C>T	ENST00000455697.1	-	8	2534	c.2249G>A	c.(2248-2250)cGg>cAg	p.R750Q	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R750Q|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R750Q|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R750Q|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R750Q|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	750					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)		TCCCAGAAACCGATTCATTCC	0.512																																																	0													128	131	130					12																	42853858		2203	4300	6503	SO:0001583	missense	0			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.2249G>A	12.37:g.42853858C>T	ENSP00000401060:p.Arg750Gln		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R750Q	ENST00000455697.1	37	c.2249	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	C	6.747	0.506603	0.12883	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.58	4.68	0.58851	.	0.299428	0.37437	N	0.002082	T	0.74876	0.3774	L	0.35341	1.055	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.60244	-0.7301	10	0.40728	T	0.16	-6.3137	6.974	0.24664	0.0:0.7577:0.0:0.2423	.	750	Q96MT3	PRIC1_HUMAN	Q	750	ENSP00000401060:R750Q;ENSP00000398947:R750Q;ENSP00000448359:R750Q;ENSP00000345064:R750Q;ENSP00000449819:R750Q	ENSP00000345064:R750Q	R	-	2	0	PRICKLE1	41140125	0.000000	0.05858	0.011000	0.14972	0.071000	0.16799	0.900000	0.28431	2.782000	0.95742	0.655000	0.94253	CGG	PRICKLE1	-	NULL	ENSG00000139174		0.512	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1	-	0	29	0	C			42853858	-1	tier1	-	no_errors	ENST00000345127	ensembl	human	known	74_37	missense	46.15	14	12	SNP	0.004	T	T	42853858	C	T	42853858	3	4	149	1	0	0	0	0	1	0	0	0	12528	652	23	1	250	1	PRICKLE1	12	42853858	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	9293844	42853858	90998037	142	37993											
SFRS2IP	9169	genome.wustl.edu	37	chr12	46355595	46355595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ttgggcatctgtcagcctcaCtgtacaacagaccagtggaa	11	9	10	11	0	3	1	2	0	1	1	3	2	3	2	2	2	3	2	2	2	3	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:46355595C>T	ENST00000369367.3	-	3	340	c.107G>A	c.(106-108)aGt>aAt	p.S36N	SCAF11_ENST00000395454.2_Missense_Mutation_p.S36N|SCAF11_ENST00000395453.2_Missense_Mutation_p.S36N|SCAF11_ENST00000419565.2_Missense_Mutation_p.S36N	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	36					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						GTCAGCCTCACTGTACAACAG	0.368																																																	0													108	104	105					12																	46355595		1872	4100	5972	SO:0001583	missense	0			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.107G>A	12.37:g.46355595C>T	ENSP00000358374:p.Ser36Asn		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S36N	ENST00000369367.3	37	c.107	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897442	0.33535	.	.	ENSG00000139218	ENST00000369367;ENST00000419565;ENST00000266589;ENST00000395454;ENST00000395453	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	6.06	-1.36	0.09085	.	0.664722	0.12822	U	0.436344	T	0.28499	0.0705	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.22243	-1.0222	10	0.35671	T	0.21	-2.2583	11.5806	0.50889	0.0:0.3018:0.0:0.6982	.	36;36	A8MUK0;Q99590	.;SCAFB_HUMAN	N	36;36;52;36;36	ENSP00000358374:S36N;ENSP00000413036:S36N;ENSP00000266589:S52N;ENSP00000378840:S36N;ENSP00000378839:S36N	ENSP00000266589:S52N	S	-	2	0	SCAF11	44641862	0.733000	0.28132	0.965000	0.40720	0.811000	0.45836	0.033000	0.13754	-0.070000	0.12908	-0.142000	0.14014	AGT	SCAF11	-	NULL	ENSG00000139218		0.368	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2		0	24	0	C	NM_004719		46355595	-1			no_errors	ENST00000369367	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.103	T	T	46355595	C	T	46355595	3	4	149	1	0	0	0	0	1	0	0	0	14222	565	20	3	4336	3	SFRS2IP	12	46355595	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	3501737	46355595	87496300	143	37994											
MCRS1	10445	genome.wustl.edu	37	chr12	49956845	49956845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgggcctgcagggccttCgcggtacgggccaggtagaa	7	6	17	11	3	0	1	0	0	0	1	1	1	0	1	3	5	2	3	3	5	3	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:49956845C>T	ENST00000550165.1	-	9	1010	c.744G>A	c.(742-744)gcG>gcA	p.A248A	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000357123.4_Silent_p.A261A|MCRS1_ENST00000546244.1_Silent_p.A57A|MCRS1_ENST00000343810.4_Silent_p.A248A			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	248					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GCAGGGCCTTCGCGGTACGGG	0.602																																																	0													56	48	50					12																	49956845		2201	4298	6499	SO:0001819	synonymous_variant	0			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"INO80 complex subunits"	6960	protein-coding gene	gene with protein product	"INO80 complex subunit Q"	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.744G>A	12.37:g.49956845C>T			O14742|O75497|Q6VN53|Q7Z372	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A261	ENST00000550165.1	37	c.783	CCDS8787.1	12																																																																																			MCRS1	-	NULL	ENSG00000187778		0.602	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	HGNC	protein_coding	OTTHUMT00000405102.1	-	0	57	0	C	NM_006337		49956845	-1	tier1	-	no_errors	ENST00000357123	ensembl	human	known	74_37	silent	22.22	27	8	SNP	0.999	T	T	49956845	C	T	49956845	2	4	149	1	0	0	0	0	0	0	0	1	9437	871	31	1		1	MCRS1	12	49956845	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	3601250	49956845	83895050	144	37995											
SCN8A	6334	genome.wustl.edu	37	chr12	52099283	52099283	+	Missense_Mutation	SNP	T	T	A	0	1	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	tttctatctggtgaacttgaTcttggctgtggtggccatgg	5	16	13	7	0	3	2	0	2	3	0	3	2	3	2	1	5	1	1	1	5	2	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:52099283T>A	ENST00000354534.6	+	10	1395	c.1217T>A	c.(1216-1218)aTc>aAc	p.I406N	SCN8A_ENST00000545061.1_Missense_Mutation_p.I406N|SCN8A_ENST00000550891.1_Missense_Mutation_p.I406N	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	406					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)	GTGAACTTGATCTTGGCTGTG	0.448																																																	0													143	151	149					12																	52099283		2133	4277	6410	SO:0001583	missense	0			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.1217T>A	12.37:g.52099283T>A	ENSP00000346534:p.Ile406Asn		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.I406N	ENST00000354534.6	37	c.1217	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	T	23.7	4.446844	0.84101	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18	4.96	4.96	0.65561	Ion transport (1);	0.105444	0.64402	D	0.000005	D	0.99381	0.9782	H	0.95679	3.705	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.996	D;D;D;P	0.91635	0.994;0.996;0.999;0.852	D	0.98559	1.0640	10	0.87932	D	0	.	15.1234	0.72463	0.0:0.0:0.0:1.0	.	406;406;406;406	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	N	406;406;406;406;319;204	ENSP00000448415:I406N;ENSP00000346534:I406N;ENSP00000440360:I406N;ENSP00000347255:I406N;ENSP00000447567:I204N	ENSP00000346534:I406N	I	+	2	0	SCN8A	50385550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.222000	0.72286	0.533000	0.62120	ATC	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.448	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0	54	0	T	NM_014191		52099283	1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	52099283	T	A	52099283	3	1	149	1	0	0	0	0	1	0	0	0	13969	1435	50	5	1251	5	SCN8A	12	52099283	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	2142438	52099283	81752612	145	37996											
KRT8	3856	genome.wustl.edu	37	chr12	53295762	53295762	+	Missense_Mutation	SNP	A	A	G	1	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	ggttgttgatgtagctctcgAacatgttgtccatgttgctt	6	17	11	7	1	1	1	0	1	1	0	3	2	2	1	1	1	3	7	1	1	2	6			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:53295762A>G	ENST00000552551.1	-	3	851	c.419T>C	c.(418-420)tTc>tCc	p.F140S	KRT8_ENST00000546897.1_Missense_Mutation_p.F140S|KRT8_ENST00000552150.1_Missense_Mutation_p.F168S|KRT8_ENST00000293308.6_Missense_Mutation_p.F140S			P05787	K2C8_HUMAN	keratin 8	140	Linker 1.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	GTAGCTCTCGAACATGTTGTC	0.572																																																	0													69	71	71					12																	53295762		2203	4300	6503	SO:0001583	missense	0			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"-", "Intermediate filaments type II, keratins (basic)"	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.419T>C	12.37:g.53295762A>G	ENSP00000447566:p.Phe140Ser		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.F140S	ENST00000552551.1	37	c.419	CCDS8841.1	12	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950261	0.34377	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000547916;ENST00000546897;ENST00000552150;ENST00000546826;ENST00000548998;ENST00000546900;ENST00000547413	D;D;D;D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	4.53	4.53	0.55603	Filament (1);	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	H	0.96111	3.77	0.80722	D	1	B;B;B	0.24317	0.046;0.101;0.057	B;B;B	0.29077	0.06;0.098;0.077	D	0.93642	0.6965	10	0.87932	D	0	.	13.3987	0.60870	1.0:0.0:0.0:0.0	.	168;140;140	F8VXB4;F8VU64;P05787	.;.;K2C8_HUMAN	S	140;140;140;140;168;140;180;23;140	ENSP00000447566:F140S;ENSP00000293308:F140S;ENSP00000447402:F140S;ENSP00000449404:F168S;ENSP00000447881:F140S;ENSP00000447040:F180S;ENSP00000450340:F23S;ENSP00000448681:F140S	ENSP00000293308:F140S	F	-	2	0	KRT8	51582029	1.000000	0.71417	0.920000	0.36463	0.091000	0.18340	7.344000	0.79328	1.977000	0.57605	0.374000	0.22700	TTC	KRT8	-	pfam_IF	ENSG00000170421		0.572	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	HGNC	protein_coding	OTTHUMT00000406385.1		0	27	0	A	NM_002273		53295762	-1			no_errors	ENST00000293308	ensembl	human	known	74_37	missense	13.16	33	5	SNP	0.999	G	G	53295762	A	G	53295762	3	3	149	1	0	0	0	0	1	0	0	0	8520	246	9	4	1060	4	KRT8	12	53295762	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	1196479	53295762	80556133	146	37997											
C12orf56	115749	genome.wustl.edu	37	chr12	64678469	64678469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccaatgtgttcaggcGtgatgactcggtttctgttt	6	15	12	8	2	2	2	1	2	1	0	3	2	2	2	1	2	2	4	1	2	1	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:64678469G>A	ENST00000543942.2	-	8	1911	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	C12orf56_ENST00000333722.5_Missense_Mutation_p.R269C|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	429								p.R269C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GTGTTCAGGCGTGATGACTCG	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)											138	130	133					12																	64678469		1922	4142	6064	SO:0001583	missense	0				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1285C>T	12.37:g.64678469G>A	ENSP00000446101:p.Arg429Cys			Missense_Mutation	SNP	NULL	p.R269C	ENST00000543942.2	37	c.805		12	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098649	0.37048	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000002	T	0.76659	0.4018	M	0.76002	2.32	0.44129	D	0.996911	D;D	0.89917	1.0;1.0	P;D	0.83275	0.88;0.996	T	0.77619	-0.2520	8	.	.	.	-2.9486	12.4453	0.55647	0.0:0.0:1.0:0.0	.	269;432	Q8IXR9-2;Q8IXR9	.;CL056_HUMAN	C	269;430;432	.	.	R	-	1	0	C12orf56	62964736	0.668000	0.27493	0.222000	0.23844	0.073000	0.16967	2.582000	0.46085	2.402000	0.81655	0.655000	0.94253	CGC	C12orf56	-	NULL	ENSG00000185306		0.383	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	HGNC	protein_coding	OTTHUMT00000401058.2	-	0	25	0	G	NM_001099676		64678469	-1	tier1	-	no_errors	ENST00000333722	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.587	A	A	64678469	G	A	64678469	3	1	149	1	0	0	0	0	1	0	0	0	1705	1145	40	1	607	1	C12orf56	12	64678469	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	11382707	64678469	69173426	147	37998											
PTPRB	5787	genome.wustl.edu	37	chr12	70918373	70918373	+	Splice_Site	SNP	T	T	C	0	1	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	gtaggtagacatactgacacTgtggaaaagcagaaacatgt	16	8	11	6	0	0	3	0	1	0	2	0	4	0	4	0	2	3	3	0	2	6	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:70918373T>C	ENST00000261266.5	-	31	5880		c.e31-2		PTPRB_ENST00000550857.1_Splice_Site|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000451516.2_Splice_Site|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549359.1_RNA|PTPRB_ENST00000334414.6_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550358.1_Splice_Site|RP11-588H23.3_ENST00000549460.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						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)			ATACTGACACTGTGGAAAAGC	0.403																																																	0													96	92	93					12																	70918373		1927	4137	6064	SO:0001630	splice_region_variant	0			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.5851-2A>G	12.37:g.70918373T>C			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Splice_Site	SNP	-	e33-2	ENST00000261266.5	37	c.6505-2	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078101	0.76528	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7135	0.77649	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRB	69204640	1.000000	0.71417	0.948000	0.38648	0.867000	0.49689	7.665000	0.83852	2.113000	0.64589	0.455000	0.32223	.	PTPRB	-	-	ENSG00000127329		0.403	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1		0	21	0	T		Intron	70918373	-1			no_errors	ENST00000334414	ensembl	human	known	74_37	splice_site	6.90	27	2	SNP	0.998	C	C	70918373	T	C	70918373	5	2	149	1	0	0	0	0	0	0	1	0	12841	1594	55	4	152	4	PTPRB	12	70918373	Splice_Site	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	6239904	70918373	62933522	148	37999											
E2F7	144455	genome.wustl.edu	37	chr12	77449703	77449703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtccctttttcttctcccGgtcccttatatctgggctgg	3	17	8	13	1	3	0	0	0	3	0	6	0	5	0	3	3	0	1	3	3	3	6			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:77449703G>A	ENST00000322886.7	-	3	536	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	E2F7_ENST00000416496.2_Missense_Mutation_p.R101W	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	101					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						TTCTTCTCCCGGTCCCTTATA	0.458																																																	0													153	147	149					12																	77449703		2203	4300	6503	SO:0001583	missense	0			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.301C>T	12.37:g.77449703G>A	ENSP00000323246:p.Arg101Trp		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	pfam_E2F_TDP	p.R101W	ENST00000322886.7	37	c.301	CCDS9016.1	12	.	.	.	.	.	.	.	.	.	.	G	16.58	3.161784	0.57368	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669;ENST00000547316	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.9	5.01	0.66863	.	0.045370	0.85682	N	0.000000	T	0.81870	0.4914	M	0.79693	2.465	0.58432	D	0.999992	P;P	0.38788	0.63;0.647	B;B	0.29663	0.105;0.048	T	0.82707	-0.0324	10	0.87932	D	0	-11.362	7.9246	0.29867	0.0773:0.0:0.6765:0.2462	.	101;101	F8VSE7;Q96AV8	.;E2F7_HUMAN	W	101	ENSP00000323246:R101W;ENSP00000393639:R101W;ENSP00000448245:R101W;ENSP00000449033:R101W	ENSP00000323246:R101W	R	-	1	2	E2F7	75973834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.724000	0.25954	1.496000	0.48567	0.650000	0.86243	CGG	E2F7	-	NULL	ENSG00000165891		0.458	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1	-	0	101	0	G	XM_084871		77449703	-1	tier1	-	no_errors	ENST00000322886	ensembl	human	known	74_37	missense	36.76	43	25	SNP	1.000	A	A	77449703	G	A	77449703	3	1	149	1	0	0	0	0	1	0	0	0	4886	1115	39	1	2478	1	E2F7	12	77449703	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	6531330	77449703	56402192	149	38000											
NAV3	89795	genome.wustl.edu	37	chr12	78362475	78362475	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaacccagcaagatatgCagtccaggtaaggaaaggaa	18	4	10	9	0	0	1	0	0	0	1	1	3	1	3	3	3	3	3	3	3	7	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:78362475C>T	ENST00000397909.2	+	5	837	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.Q222*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Q222*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Q222*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	222						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						GCAAGATATGCAGTCCAGGTA	0.428										HNSCC(70;0.22)																																							0													51	51	51					12																	78362475		1958	4163	6121	SO:0001587	stop_gained	0			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.664C>T	12.37:g.78362475C>T	ENSP00000381007:p.Gln222*		Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.Q222*	ENST00000397909.2	37	c.664		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.563136|8.563136	0.98863|0.98863	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000550503|ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|.	.|.	.|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.36519	.|U	.|0.002543	T|.	0.75361|.	0.3839|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71344|.	-0.4621|.	4|.	.|0.36615	.|T	.|0.2	-12.2949|-12.2949	20.1588|20.1588	0.98128|0.98128	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	68|222	.|.	.|ENSP00000228327:Q222X	A|Q	+|+	2|1	0|0	NAV3|NAV3	76886606|76886606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.282000|7.282000	0.78630|0.78630	2.767000|2.767000	0.95098|0.95098	0.637000|0.637000	0.83480|0.83480	GCA|CAG	NAV3	-	superfamily_CH-domain	ENSG00000067798		0.428	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	21	0	C	NM_001024383		78362475	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	nonsense	38.10	13	8	SNP	1.000	T	T	78362475	C	T	78362475	4	4	149	1	0	0	0	0	0	1	0	0	10223	711	25	3	682	3	NAV3	12	78362475	Nonsense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	912772	78362475	55489420	150	38001											
C12orf12	196477	genome.wustl.edu	37	chr12	91348387	91348387	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtctattgtacgctggagCacccgggcgccttcgatggc	5	9	14	13	5	1	0	0	0	1	0	2	2	1	1	2	4	2	3	2	4	2	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:91348387C>G	ENST00000358859.2	-	1	566	c.133G>C	c.(133-135)Gct>Cct	p.A45P	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	45																	TACGCTGGAGCACCCGGGCGC	0.662																																																	0													29	28	28					12																	91348387		2203	4300	6503	SO:0001583	missense	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.133G>C	12.37:g.91348387C>G	ENSP00000351727:p.Ala45Pro		Q8TC47	Missense_Mutation	SNP	NULL	p.A45P	ENST00000358859.2	37	c.133	CCDS9036.1	12	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558921	0.27827	.	.	ENSG00000197651	ENST00000358859	T	0.37752	1.18	5.08	2.63	0.31362	.	0.485509	0.15429	N	0.262805	T	0.36936	0.0985	L	0.27053	0.805	0.09310	N	1	D	0.55385	0.971	P	0.58454	0.839	T	0.09143	-1.0688	10	0.62326	D	0.03	-3.5093	6.1724	0.20424	0.0:0.7385:0.0:0.2615	.	45	Q8TC90	CL012_HUMAN	P	45	ENSP00000351727:A45P	ENSP00000351727:A45P	A	-	1	0	C12orf12	89872518	0.001000	0.12720	0.012000	0.15200	0.004000	0.04260	-0.042000	0.12063	0.689000	0.31550	0.462000	0.41574	GCT	CCER1	-	NULL	ENSG00000197651		0.662	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2	-	0	33	0	C	NM_152638		91348387	-1	tier1	-	no_errors	ENST00000358859	ensembl	human	known	74_37	missense	37.93	18	11	SNP	0.011	G	G	91348387	C	G	91348387	3	3	149	1	0	0	0	0	1	0	0	0	1681	710	25	5	1091	5	C12orf12	12	91348387	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	12985912	91348387	42503508	151	38002											
GOLGA2B	55592	genome.wustl.edu	37	chr12	100551427	100551427	+	RNA	SNP	G	G	T	0	0	1	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	gggccgaggccaacagatgaGccaggcgctggcagtgcact	9	4	16	12	2	0	2	0	1	0	1	0	3	0	2	3	4	3	3	3	4	1	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:100551427G>T	ENST00000397112.4	-	0	1771				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CAACAGATGAGCCAGGCGCTG	0.627																																																	0													32	35	34					12																	100551427		2203	4300	6503			0																															12.37:g.100551427G>T			Q9NSV2	RNA	SNP	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2B	-	-	ENSG00000238105		0.627	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000396439.2	-	0	61	0	G			100551427	-1	tier1	-	no_errors	ENST00000397112	ensembl	human	known	74_37	rna	26.67	33	12	SNP	0.000	T	T	100551427	G	T	100551427	1	4	149	0	1	0	0	0	0	0	0	0	6579	971	34	3		3	GOLGA2B	12	100551427	RNA	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	9203040	100551427	33300468	152	38003											
SRRM4	84530	genome.wustl.edu	37	chr12	119594488	119594488	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cagcagctctagctcccgcaGccctagtccgggctcccgca	6	6	10	19	3	1	0	0	0	1	0	4	0	4	0	4	1	4	6	4	1	2	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:119594488G>T	ENST00000267260.4	+	13	2109	c.1721G>T	c.(1720-1722)aGc>aTc	p.S574I		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	574	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGCTCCCGCAGCCCTAGTCCG	0.726																																																	0													3	5	5					12																	119594488		1822	3845	5667	SO:0001583	missense	0			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.1721G>T	12.37:g.119594488G>T	ENSP00000267260:p.Ser574Ile		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	NULL	p.S574I	ENST00000267260.4	37	c.1721	CCDS44994.1	12	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542424	0.45280	.	.	ENSG00000139767	ENST00000267260	T	0.27720	1.65	5.31	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.28134	0.0694	N	0.08118	0	0.29688	N	0.841135	D	0.76494	0.999	D	0.67548	0.952	T	0.06499	-1.0823	9	.	.	.	-3.9701	8.1555	0.31167	0.2262:0.0:0.7738:0.0	.	574	A7MD48	SRRM4_HUMAN	I	574	ENSP00000267260:S574I	.	S	+	2	0	SRRM4	118078871	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.444000	0.52914	2.658000	0.90341	0.650000	0.86243	AGC	SRRM4	-	NULL	ENSG00000139767		0.726	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	-	0	20	0	G	NM_194286		119594488	1	tier1	-	no_errors	ENST00000267260	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.999	T	T	119594488	G	T	119594488	3	4	149	1	0	0	0	0	1	0	0	0	15218	971	34	3	1771	3	SRRM4	12	119594488	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	19043061	119594488	14257407	153	38004											
NCOR2	9612	genome.wustl.edu	37	chr12	124827641	124827641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccacgccactcacgccccGaagcaggtgctcatagggcg	8	5	12	16	4	2	0	2	0	0	0	3	1	3	0	4	2	2	2	4	2	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:124827641G>A	ENST00000405201.1	-	33	4846	c.4846C>T	c.(4846-4848)Cgg>Tgg	p.R1616W	NCOR2_ENST00000356219.3_Missense_Mutation_p.R1623W|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1177W|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1606W|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1606W|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1607W			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1624					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)		CTCACGCCCCGAAGCAGGTGC	0.667																																																	0													39	48	45					12																	124827641		2155	4248	6403	SO:0001583	missense	0			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.4846C>T	12.37:g.124827641G>A	ENSP00000384018:p.Arg1616Trp		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R1623W	ENST00000405201.1	37	c.4867	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005311	0.35415	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.27	4.35	0.52113	.	0.075915	0.56097	D	0.000031	T	0.71702	0.3371	M	0.73962	2.25	0.41066	D	0.985418	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.997	T	0.76440	-0.2958	10	0.87932	D	0	-33.0727	15.2726	0.73717	0.0:0.0:0.8593:0.1407	.	1606;1607;1616	C9J0Q5;C9J239;C9JFD3	.;.;.	W	1616;1606;1623;1607;1615;1177;1606	ENSP00000384018:R1616W;ENSP00000384202:R1606W;ENSP00000348551:R1623W;ENSP00000380513:R1607W;ENSP00000385618:R1177W;ENSP00000400281:R1606W	ENSP00000348551:R1623W	R	-	1	2	NCOR2	123393594	1.000000	0.71417	0.837000	0.33122	0.017000	0.09413	7.075000	0.76798	2.440000	0.82611	0.655000	0.94253	CGG	NCOR2	-	NULL	ENSG00000196498		0.667	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0	52	0	G	NM_006312		124827641	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	33.33	29	15	SNP	0.981	A	A	124827641	G	A	124827641	3	1	149	1	0	0	0	0	1	0	0	0	10275	1057	37	1	2758	1	NCOR2	12	124827641	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	5233153	124827641	9024254	154	38005											
NCOR2	9612	genome.wustl.edu	37	chr12	124832396	124832396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgatggacccgcggatgtgGtgctgctctttgaggtggtg	4	12	18	7	2	1	2	0	2	1	0	1	4	1	4	1	5	2	2	1	5	0	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr12:124832396G>T	ENST00000405201.1	-	30	4047	c.4047C>A	c.(4045-4047)caC>caA	p.H1349Q	NCOR2_ENST00000356219.3_Missense_Mutation_p.H1356Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.H910Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.H1339Q|NCOR2_ENST00000429285.2_Missense_Mutation_p.H1339Q|NCOR2_ENST00000397355.1_Missense_Mutation_p.H1340Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1357					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)		CGCGGATGTGGTGCTGCTCTT	0.657											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83	94	90					12																	124832396		2173	4259	6432	SO:0001583	missense	0			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.4047C>A	12.37:g.124832396G>T	ENSP00000384018:p.His1349Gln	1537	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.H1356Q	ENST00000405201.1	37	c.4068	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	g	9.330	1.060347	0.19987	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.5	5.11	0.0377	0.14197	.	0.055177	0.64402	D	0.000001	T	0.38558	0.1045	N	0.16903	0.455	0.32283	N	0.567289	B;D;B	0.71674	0.349;0.998;0.42	B;D;B	0.75484	0.123;0.986;0.187	T	0.44112	-0.9349	10	0.31617	T	0.26	-35.9918	6.1065	0.20077	0.498:0.0:0.377:0.125	.	1339;1340;1349	C9J0Q5;C9J239;C9JFD3	.;.;.	Q	1349;1339;1356;1340;1348;910;1339;1357	ENSP00000384018:H1349Q;ENSP00000384202:H1339Q;ENSP00000348551:H1356Q;ENSP00000380513:H1340Q;ENSP00000385618:H910Q;ENSP00000400281:H1339Q;ENSP00000402808:H1357Q	ENSP00000348551:H1356Q	H	-	3	2	NCOR2	123398349	0.996000	0.38824	0.992000	0.48379	0.554000	0.35429	0.431000	0.21444	-0.051000	0.13334	-0.215000	0.12644	CAC	NCOR2	-	NULL	ENSG00000196498		0.657	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0	58	0	G	NM_006312		124832396	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.950	T	T	124832396	G	T	124832396	3	4	149	1	0	0	0	0	1	0	0	0	10275	1252	44	3	3569	3	NCOR2	12	124832396	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	4755	124832396	9019499	155	38006											
PABPC3	5042	genome.wustl.edu	37	chr13	25670833	25670833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaatgctcctaaatggtcGcaaagtatttgttggacaat	12	12	10	7	2	0	0	0	0	0	0	2	2	1	2	1	3	1	4	1	3	6	4	rs142438880	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:25670833G>A	ENST00000281589.3	+	1	534	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	166	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)		CTAAATGGTCGCAAAGTATTT	0.388													g|||	3	0.000599042	0.0023	0	5008	,	,		21850	0		0	False		,,,				2504	0																0								G	HIS/ARG	14,4392	21.2+/-45.6	0,14,2189	112	108	109		497	-0.6	0.1	13	dbSNP_134	109	0,8600		0,0,4300	yes	missense	PABPC3	NM_030979.2	29	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	benign	166/632	25670833	14,12992	2203	4300	6503	SO:0001583	missense	0			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.497G>A	13.37:g.25670833G>A	ENSP00000281589:p.Arg166His		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.R166H	ENST00000281589.3	37	c.497	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273749	0.23221	0.003177	0.0	ENSG00000151846	ENST00000281589	D	0.92595	-3.07	0.546	-0.566	0.11767	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.130376	0.33477	N	0.004871	D	0.87390	0.6165	M	0.67517	2.055	0.39442	D	0.967264	B	0.26400	0.148	B	0.20384	0.029	T	0.77183	-0.2681	10	0.72032	D	0.01	.	5.0904	0.14706	0.2672:0.0:0.7328:0.0	.	166	Q9H361	PABP3_HUMAN	H	166	ENSP00000281589:R166H	ENSP00000281589:R166H	R	+	2	0	PABPC3	24568833	1.000000	0.71417	0.114000	0.21550	0.027000	0.11550	3.841000	0.55850	-0.382000	0.07870	-0.680000	0.03767	CGC	PABPC3	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000151846		0.388	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2		0	36	0	G	NM_030979		25670833	1			no_errors	ENST00000281589	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	25670833	G	A	25670833	3	1	149	1	0	0	0	0	1	0	0	0	11404	1087	38	1	499	1	PABPC3	13	25670833	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09		25670833	89499045	156	38007											
BRCA2	675	genome.wustl.edu	37	chr13	32900736	32900736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaccacccacccttagttCtactgtgctcataggtaata	11	12	5	13	0	2	0	1	0	1	0	2	0	2	0	3	1	3	3	3	1	6	7	rs397507832		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:32900736C>G	ENST00000380152.3	+	7	850	c.617C>G	c.(616-618)tCt>tGt	p.S206C	BRCA2_ENST00000544455.1_Missense_Mutation_p.S206C			P51587	BRCA2_HUMAN	breast cancer 2, early onset	206					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)		ACCCTTAGTTCTACTGTGCTC	0.383			"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													98	96	97					13																	32900736		2203	4300	6503	SO:0001583	missense	0	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.617C>G	13.37:g.32900736C>G	ENSP00000369497:p.Ser206Cys		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.S206C	ENST00000380152.3	37	c.617	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575398	0.65878	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00848	5.62;5.62	5.65	5.65	0.86999	.	0.217177	0.33075	N	0.005301	T	0.03011	0.0089	L	0.49778	1.585	0.25741	N	0.985166	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.747	T	0.40646	-0.9552	10	0.54805	T	0.06	.	10.4837	0.44708	0.1352:0.794:0.0:0.0708	.	206;206	P51587;A1YBP1	BRCA2_HUMAN;.	C	206;206;204	ENSP00000369497:S206C;ENSP00000439902:S206C	ENSP00000369497:S206C	S	+	2	0	BRCA2	31798736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.051000	0.49885	2.655000	0.90218	0.563000	0.77884	TCT	BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.383	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	-	0	33	0	C	NM_000059		32900736	1	tier1	-	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.997	G	G	32900736	C	G	32900736	3	3	149	1	0	0	0	0	1	0	0	0	1503	913	32	5	639	5	BRCA2	13	32900736	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	7229903	32900736	82269142	157	38008											
OLFM4	10562	genome.wustl.edu	37	chr13	53624719	53624719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgtactatgaacaccaGaacagaagagattttttact	15	10	6	10	1	0	4	0	1	0	3	0	5	0	4	2	0	4	1	2	0	6	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:53624719G>T	ENST00000219022.2	+	5	1424	c.1346G>T	c.(1345-1347)aGa>aTa	p.R449I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	449	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)	p.R449K(1)		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)		ATGAACACCAGAACAGAAGAG	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											131	122	125					13																	53624719		2203	4300	6503	SO:0001583	missense	0			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.1346G>T	13.37:g.53624719G>T	ENSP00000219022:p.Arg449Ile		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.R449I	ENST00000219022.2	37	c.1346	CCDS9440.1	13	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389771	0.25118	.	.	ENSG00000102837	ENST00000219022	D	0.89485	-2.52	5.83	-1.1	0.09872	Olfactomedin-like (3);	0.525015	0.23541	N	0.047069	D	0.89515	0.6737	M	0.83483	2.645	0.24566	N	0.99395	B	0.32467	0.372	B	0.39771	0.309	T	0.82845	-0.0256	10	0.52906	T	0.07	.	12.353	0.55159	0.4715:0.0:0.5285:0.0	.	449	Q6UX06	OLFM4_HUMAN	I	449	ENSP00000219022:R449I	ENSP00000219022:R449I	R	+	2	0	OLFM4	52522720	0.384000	0.25164	0.065000	0.19835	0.315000	0.28087	0.194000	0.17135	-0.634000	0.05538	-0.970000	0.02610	AGA	OLFM4	-	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	ENSG00000102837		0.413	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	HGNC	protein_coding	OTTHUMT00000045112.2		0	25	0	G	NM_006418		53624719	1			no_errors	ENST00000219022	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.043	T	T	53624719	G	T	53624719	3	4	149	1	0	0	0	0	1	0	0	0	10894	942	33	3	1364	3	OLFM4	13	53624719	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	20723983	53624719	61545159	158	38009											
PCDH20	64881	genome.wustl.edu	37	chr13	61986565	61986565	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggcatctgtagcatacagcTtagtcaaaaaggcattgggt	12	10	11	8	1	2	0	1	0	1	0	2	0	2	0	0	3	3	5	0	3	5	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:61986565T>G	ENST00000409186.1	-	5	3772	c.1667A>C	c.(1666-1668)aAg>aCg	p.K556T	PCDH20_ENST00000409204.4_Missense_Mutation_p.K556T			Q8N6Y1	PCD20_HUMAN	protocadherin 20	556	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)		AGCATACAGCTTAGTCAAAAA	0.418																																																	0													144	146	145					13																	61986565		2203	4300	6503	SO:0001583	missense	0			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.1667A>C	13.37:g.61986565T>G	ENSP00000386653:p.Lys556Thr		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K556T	ENST00000409186.1	37	c.1667	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651508	0.29336	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.48201	0.82;0.82	6.0	6.0	0.97389	.	0.000000	0.64402	D	0.000003	T	0.50034	0.1592	L	0.37897	1.145	0.58432	D	0.999993	D	0.53312	0.959	P	0.55749	0.783	T	0.37888	-0.9686	10	0.07644	T	0.81	.	16.5044	0.84266	0.0:0.0:0.0:1.0	.	556	A8K1K9	.	T	556;556;302	ENSP00000387250:K556T;ENSP00000386653:K556T	ENSP00000351500:K302T	K	-	2	0	PCDH20	60884566	1.000000	0.71417	0.906000	0.35671	0.814000	0.46013	6.114000	0.71560	2.295000	0.77249	0.528000	0.53228	AAG	PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000197991		0.418	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	-	0	34	0	T	NM_022843		61986565	-1	tier1	-	no_errors	ENST00000409186	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	G	G	61986565	T	G	61986565	3	3	149	1	0	0	0	0	1	0	0	0	11554	1609	56	4	1192	4	PCDH20	13	61986565	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	8361846	61986565	53183313	159	38010											
MYCBP2	23077	genome.wustl.edu	37	chr13	77673005	77673005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcactagcagataaactttCtgtgccccttggcttcttct	7	16	6	12	0	4	1	1	0	3	1	4	1	4	1	2	1	3	2	2	1	3	7			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:77673005C>T	ENST00000544440.2	-	56	8187	c.8170G>A	c.(8170-8172)Gaa>Aaa	p.E2724K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E2724K|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E2762K|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Missense_Mutation_p.E247K|MYCBP2_ENST00000482517.1_5'UTR					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)		GATAAACTTTCTGTGCCCCTT	0.453																																																	0													136	123	128					13																	77673005		2203	4300	6503	SO:0001583	missense	0			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.8170G>A	13.37:g.77673005C>T	ENSP00000444596:p.Glu2724Lys			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E2762K	ENST00000544440.2	37	c.8284		13	.	.	.	.	.	.	.	.	.	.	C	9.995	1.231980	0.22626	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.50277	1.47;1.47;1.47;0.75	5.7	5.7	0.88788	.	0.227074	0.45361	D	0.000379	T	0.36799	0.0980	L	0.27053	0.805	0.40073	D	0.976041	P;B;B	0.41848	0.763;0.13;0.079	B;B;B	0.36608	0.229;0.055;0.015	T	0.12941	-1.0528	10	0.22706	T	0.39	.	19.8247	0.96612	0.0:1.0:0.0:0.0	.	110;2724;2724	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	K	2724;2762;2724;247	ENSP00000349892:E2724K;ENSP00000384288:E2762K;ENSP00000444596:E2724K;ENSP00000353197:E247K	ENSP00000349892:E2724K	E	-	1	0	MYCBP2	76571006	1.000000	0.71417	0.515000	0.27774	0.323000	0.28346	5.359000	0.66074	2.696000	0.92011	0.655000	0.94253	GAA	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.453	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	42	0	C	NM_015057		77673005	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.994	T	T	77673005	C	T	77673005	3	4	149	1	0	0	0	0	1	0	0	0	10056	922	32	3	5864	3	MYCBP2	13	77673005	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	15686440	77673005	37496873	160	38011											
SCEL	8796	genome.wustl.edu	37	chr13	78146277	78146277	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtcctggtttccaccGccccctccaggttacaatgc	7	9	9	16	1	0	0	0	0	0	0	3	0	3	0	6	3	2	3	6	3	2	2	rs528874271		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr13:78146277G>T	ENST00000349847.3	+	9	582	c.498G>T	c.(496-498)ccG>ccT	p.P166P	SCEL_ENST00000377246.3_Silent_p.P166P|SCEL_ENST00000535157.1_Intron	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	166					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GGTTTCCACCGCCCCCTCCAG	0.468																																																	0													133	105	115					13																	78146277		2203	4300	6503	SO:0001819	synonymous_variant	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.498G>T	13.37:g.78146277G>T			B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.P166	ENST00000349847.3	37	c.498	CCDS9459.1	13																																																																																			SCEL	-	NULL	ENSG00000136155		0.468	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	-	0	40	0	G	NM_144777		78146277	1	tier1	-	no_errors	ENST00000349847	ensembl	human	known	74_37	silent	29.63	17	8	SNP	0.982	T	T	78146277	G	T	78146277	2	4	149	1	0	0	0	0	0	0	0	1	13933	1074	38	2		2	SCEL	13	78146277	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	473272	78146277	37023601	161	38012											
SSTR1	6751	genome.wustl.edu	37	chr14	38678997	38678997	+	Missense_Mutation	SNP	A	A	G	1	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	tgctctgccgcctcgtgctcAgcgtggacgcggtcaacatg	5	9	13	14	5	3	0	2	0	1	0	4	1	3	1	2	2	5	2	2	2	1	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:38678997A>G	ENST00000267377.2	+	3	1020	c.403A>G	c.(403-405)Agc>Ggc	p.S135G		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	135					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)	CCTCGTGCTCAGCGTGGACGC	0.622																																																	0													170	156	161					14																	38678997		2203	4300	6503	SO:0001583	missense	0				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.403A>G	14.37:g.38678997A>G	ENSP00000267377:p.Ser135Gly			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt	p.S135G	ENST00000267377.2	37	c.403	CCDS9666.1	14	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495158	0.64186	.	.	ENSG00000139874	ENST00000267377	T	0.19938	2.11	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.25382	0.0617	L	0.48877	1.53	0.54753	D	0.999986	B	0.24920	0.114	B	0.35278	0.199	T	0.07158	-1.0787	10	0.56958	D	0.05	.	13.7174	0.62705	1.0:0.0:0.0:0.0	.	135	P30872	SSR1_HUMAN	G	135	ENSP00000267377:S135G	ENSP00000267377:S135G	S	+	1	0	SSTR1	37748748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.317000	0.79018	2.034000	0.60081	0.459000	0.35465	AGC	SSTR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt	ENSG00000139874		0.622	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR1	HGNC	protein_coding	OTTHUMT00000409930.2	-	0	24	0	A			38678997	1	tier1	-	no_errors	ENST00000267377	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	G	G	38678997	A	G	38678997	3	3	149	1	0	0	0	0	1	0	0	0	15244	188	7	4	405	4	SSTR1	14	38678997	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09		38678997	68670543	162	38013											
MDGA2	161357	genome.wustl.edu	37	chr14	47351346	47351346	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtttaattagctctgtcaAgttatatgtaattaattctc	11	19	6	5	0	3	0	1	0	2	0	4	0	3	0	0	1	1	4	0	1	7	8			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:47351346A>C	ENST00000399232.2	-	11	2474	c.2110T>G	c.(2110-2112)Ttg>Gtg	p.L704V	MDGA2_ENST00000426342.1_Missense_Mutation_p.L475V|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.L773V|MDGA2_ENST00000357362.3_Missense_Mutation_p.L475V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	704	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AGCTCTGTCAAGTTATATGTA	0.378																																																	0													63	61	62					14																	47351346		1824	4087	5911	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2110T>G	14.37:g.47351346A>C	ENSP00000382178:p.Leu704Val		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.L773V	ENST00000399232.2	37	c.2317		14	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767160	0.69878	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.1	3.78	0.43462	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.41194	U	0.000924	T	0.48572	0.1507	M	0.61703	1.905	0.80722	D	1	D;P	0.54397	0.966;0.897	P;P	0.56563	0.801;0.463	T	0.53982	-0.8361	10	0.09084	T	0.74	.	3.9378	0.09313	0.7057:0.0:0.2943:0.0	.	475;704	F6W3S7;Q7Z553	.;MDGA2_HUMAN	V	704;475;773;475	ENSP00000400011:L704V;ENSP00000405456:L475V;ENSP00000382178:L773V;ENSP00000349925:L475V	ENSP00000349925:L475V	L	-	1	2	MDGA2	46421096	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.160000	0.71862	2.059000	0.61396	0.383000	0.25322	TTG	MDGA2	-	superfamily_Fibronectin_type3	ENSG00000272781		0.378	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	51	0	A	NM_182830		47351346	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	34.85	43	23	SNP	1.000	C	C	47351346	A	C	47351346	3	2	149	1	0	0	0	0	1	0	0	0	9445	69	3	4	788	4	MDGA2	14	47351346	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	8672349	47351346	59998194	163	38014											
NIN	51199	genome.wustl.edu	37	chr14	51273538	51273539	+	Splice_Site	INS	-	-	A																															aaattggtcaaaatgtacctINSaaaaaaaattaaaaatagat																								rs150006561	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:51273538_51273539insA	ENST00000382041.3	-	4	374		c.e4-2		NIN_ENST00000453196.1_Splice_Site|NIN_ENST00000389868.3_Splice_Site|NIN_ENST00000324330.9_Splice_Site|NIN_ENST00000530997.2_Splice_Site|NIN_ENST00000245441.5_Splice_Site|NIN_ENST00000382043.4_Splice_Site	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						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)					AAAATGTACCTAAAAAAAATTA	0.342			T	PDGFRB	MPD								AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	15	0.00299521	0.0113	0	5008	,	,		17488	0		0	False		,,,				2504	0							Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0									,,,	28,4234		0,28,2103					,,,	5.6	1		dbSNP_134	51	5,8249		0,5,4122	no	splice-3,splice-3,splice-3,splice-3	NIN	NM_182946.1,NM_182944.2,NM_020921.3,NM_016350.4	,,,	0,33,6225	A1A1,A1R,RR		0.0606,0.657,0.2637	,,,	,,,		33,12483				SO:0001630	splice_region_variant	0			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.184-2->T	14.37:g.51273546_51273546dupA			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Splice_Site	INS	-	e2-2	ENST00000382041.3	37	c.184-3_184-2	CCDS32079.1	14																																																																																			NIN	-	-	ENSG00000100503		0.342	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2		0	20	0	-	NM_182946	Intron	51273539	-1	tier1		no_errors	ENST00000245441	ensembl	human	known	74_37	splice_site_ins	27.59	21	8	INS	0.997:0.854	A	A	51273539	-	A	51273538	8	5	149	1	0	1	1	0	0	0	1	0	10456	1536	53	0	6479	0	NIN	14	51273538	Splice_Site	INS	-	TCGA-R6-A8W8-01B-11D-A37C-09	3922192	51273538	56076002	164	38015											
NID2	22795	genome.wustl.edu	37	chr14	52481775	52481775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ggcggccaggtgcttacacgCaggggtggtgcctggctggg	4	7	20	10	2	0	0	0	0	0	0	0	0	0	0	2	8	3	3	2	8	1	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:52481775C>T	ENST00000216286.5	-	15	3246	c.3247G>A	c.(3247-3249)Gcg>Acg	p.A1083T	NID2_ENST00000541773.1_Missense_Mutation_p.A982T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1083	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)					TGCTTACACGCAGGGGTGGTG	0.637																																																	0													22	21	22					14																	52481775		2203	4300	6503	SO:0001583	missense	0			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.3247G>A	14.37:g.52481775C>T	ENSP00000216286:p.Ala1083Thr		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.A1083T	ENST00000216286.5	37	c.3247	CCDS9706.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.80|13.80	2.346334|2.346334	0.41599|0.41599	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707|ENST00000556572	T;T|.	0.62639|.	0.01;0.01|.	5.67|5.67	2.72|2.72	0.32119|0.32119	Thyroglobulin type-1 (4);|.	0.356155|.	0.31697|.	N|.	0.007205|.	T|T	0.47002|0.47002	0.1422|0.1422	L|L	0.41573|0.41573	1.285|1.285	0.34447|0.34447	D|D	0.700249|0.700249	B;B;P;B|.	0.36222|.	0.243;0.275;0.544;0.082|.	B;B;B;B|.	0.34093|.	0.124;0.096;0.175;0.117|.	T|T	0.54351|0.54351	-0.8307|-0.8307	10|5	0.13470|.	T|.	0.59|.	.|.	7.958|7.958	0.30055|0.30055	0.0:0.635:0.205:0.16|0.0:0.635:0.205:0.16	.|.	677;982;1085;1083|.	E7EPP3;Q14112-2;Q5CZI2;Q14112|.	.;.;.;NID2_HUMAN|.	T|Y	1083;677;982;1085|351	ENSP00000216286:A1083T;ENSP00000443730:A982T|.	ENSP00000216286:A1083T|.	A|C	-|-	1|2	0|0	NID2|NID2	51551525|51551525	0.902000|0.902000	0.30710|0.30710	0.668000|0.668000	0.29813|0.29813	0.887000|0.887000	0.51463|0.51463	1.512000|1.512000	0.35812|0.35812	0.758000|0.758000	0.33059|0.33059	0.655000|0.655000	0.94253|0.94253	GCG|TGC	NID2	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000087303		0.637	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	-	0	31	0	C			52481775	-1	tier1	-	no_errors	ENST00000216286	ensembl	human	known	74_37	missense	40.54	22	15	SNP	0.917	T	T	52481775	C	T	52481775	3	4	149	1	0	0	0	0	1	0	0	0	10454	710	25	3	912	3	NID2	14	52481775	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	1208237	52481775	54867765	165	38016											
SLC38A6	145389	genome.wustl.edu	37	chr14	61519066	61519066	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttcttatttccacaGgcattcgttttgctcatctt	5	22	4	10	1	4	0	1	0	3	0	6	0	5	0	1	1	1	3	1	1	1	9			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:61519066G>A	ENST00000267488.4	+	16	1406		c.e16-1		SLC38A6_ENST00000354886.2_Intron|SLC38A6_ENST00000456840.2_Intron	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.?(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		tatttcCACAGGCATTCGTTT	0.249																																																	1	Unknown(1)	skin(1)											66	63	64					14																	61519066		2193	4290	6483	SO:0001630	splice_region_variant	0			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.1291-1G>A	14.37:g.61519066G>A			C9JWA6|Q86SY5	Splice_Site	SNP	-	e16-1	ENST00000267488.4	37	c.1291-1	CCDS9751.1	14	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512447	0.27123	.	.	ENSG00000139974	ENST00000267488;ENST00000529212	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6577	0.91460	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC38A6	60588819	1.000000	0.71417	0.982000	0.44146	0.138000	0.21146	4.681000	0.61663	2.624000	0.88883	0.650000	0.86243	.	SLC38A6	-	-	ENSG00000139974		0.249	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A6	HGNC	protein_coding	OTTHUMT00000276957.1		0	25	0	G		Intron	61519066	1			no_errors	ENST00000267488	ensembl	human	known	74_37	splice_site	8.70	21	2	SNP	1.000	A	A	61519066	G	A	61519066	5	1	149	1	0	0	0	0	0	0	1	0	14653	1014	35	3	1352	3	SLC38A6	14	61519066	Splice_Site	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	9037291	61519066	45830474	166	38017											
NUMB	8650	genome.wustl.edu	37	chr14	73743854	73743854	+	Missense_Mutation	SNP	A	A	G	1	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	gaggctggagaactggctgcAgaggagcagctgaggcctgg	9	5	19	8	0	0	3	0	1	0	2	0	6	0	4	1	6	4	5	1	6	1	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:73743854A>G	ENST00000355058.3	-	13	1666	c.1388T>C	c.(1387-1389)cTg>cCg	p.L463P	NUMB_ENST00000356296.4_Missense_Mutation_p.L415P|NUMB_ENST00000544991.3_Missense_Mutation_p.L268P|NUMB_ENST00000557597.1_Missense_Mutation_p.L452P|NUMB_ENST00000555238.1_Missense_Mutation_p.L463P|NUMB_ENST00000556772.1_Missense_Mutation_p.L319P|NUMB_ENST00000535282.1_Missense_Mutation_p.L452P|NUMB_ENST00000359560.3_Missense_Mutation_p.L452P|NUMB_ENST00000559312.1_Missense_Mutation_p.L268P|NUMB_ENST00000555738.2_Missense_Mutation_p.L306P|NUMB_ENST00000555394.1_Missense_Mutation_p.L415P|NUMB_ENST00000554546.1_Missense_Mutation_p.L404P|NUMB_ENST00000454166.4_Missense_Mutation_p.L317P|NUMB_ENST00000560335.1_Missense_Mutation_p.L317P|NUMB_ENST00000554521.2_Missense_Mutation_p.L257P			P49757	NUMB_HUMAN	numb homolog (Drosophila)	463					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		AACTGGCTGCAGAGGAGCAGC	0.612																																																	0													49	47	48					14																	73743854		2203	4300	6503	SO:0001583	missense	0			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1388T>C	14.37:g.73743854A>G	ENSP00000347169:p.Leu463Pro		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.L463P	ENST00000355058.3	37	c.1388	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823664	0.32237	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T;T;T	0.55413	0.53;0.52;0.97;0.97;1.55;0.97;0.97;0.52;0.55;0.56;0.58;0.54;0.97	5.65	5.65	0.86999	.	0.508381	0.20173	N	0.097690	T	0.36799	0.0980	N	0.08118	0	0.58432	D	0.999992	B;B;B;B;B;P;P;P;P	0.48016	0.004;0.0;0.0;0.0;0.0;0.787;0.787;0.713;0.904	B;B;B;B;B;P;P;P;B	0.49999	0.004;0.001;0.001;0.001;0.001;0.544;0.544;0.628;0.391	T	0.18209	-1.0344	10	0.27082	T	0.32	-7.5811	5.5728	0.17206	0.8059:0.0:0.1941:0.0	.	161;306;317;257;268;404;415;452;463	B1P2N9;B1P2N6;B1P2N5;B1P2N8;B1P2N7;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;NUMB_HUMAN	P	404;415;452;463;319;463;452;415;268;317;306;257;452	ENSP00000452416:L404P;ENSP00000348644:L415P;ENSP00000451117:L452P;ENSP00000451300:L463P;ENSP00000451513:L319P;ENSP00000347169:L463P;ENSP00000352563:L452P;ENSP00000451625:L415P;ENSP00000446001:L268P;ENSP00000394025:L317P;ENSP00000452069:L306P;ENSP00000450817:L257P;ENSP00000441258:L452P	ENSP00000347169:L463P	L	-	2	0	NUMB	72813607	0.993000	0.37304	1.000000	0.80357	0.967000	0.64934	2.143000	0.42187	2.371000	0.80710	0.533000	0.62120	CTG	NUMB	-	pirsf_Numb/numb-like	ENSG00000133961		0.612	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1		0	44	0	A			73743854	-1			no_errors	ENST00000355058	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.999	G	G	73743854	A	G	73743854	3	3	149	1	0	0	0	0	1	0	0	0	10790	188	7	4	571	4	NUMB	14	73743854	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	12224788	73743854	33605686	167	38018											
HEATR4	399671	genome.wustl.edu	37	chr14	73987652	73987652	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagctctgggtttggggctGggagaggctcgtcttttcat	4	14	16	7	1	3	1	1	0	2	1	4	2	3	1	0	5	1	5	0	5	1	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:73987652G>A	ENST00000553558.1	-	4	1294	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	HEATR4_ENST00000560393.1_Nonsense_Mutation_p.Q278*|RP3-414A15.2_ENST00000555972.2_RNA|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Nonsense_Mutation_p.Q325*	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	325										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTTTGGGGCTGGGAGAGGCTC	0.502																																																	0													154	141	145					14																	73987652		2203	4300	6503	SO:0001587	stop_gained	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.973C>T	14.37:g.73987652G>A	ENSP00000450444:p.Gln325*		B7Z7V9|E9KL41	Nonsense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.Q325*	ENST00000553558.1	37	c.973	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	G	35	5.435735	0.96168	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	.	.	.	4.9	-1.16	0.09678	.	1.540280	0.03795	N	0.263419	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-0.0353	8.5695	0.33561	0.0:0.3898:0.3454:0.2648	.	.	.	.	X	325;278	.	ENSP00000335447:Q278X	Q	-	1	0	HEATR4	73057405	0.002000	0.14202	0.000000	0.03702	0.015000	0.08874	0.683000	0.25349	-0.088000	0.12506	0.655000	0.94253	CAG	HEATR4	-	NULL	ENSG00000187105		0.502	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	-	0	106	0	G	NM_203309		73987652	-1	tier1	-	no_errors	ENST00000334988	ensembl	human	known	74_37	nonsense	40.83	100	69	SNP	0.000	A	A	73987652	G	A	73987652	4	1	149	1	0	0	0	0	0	1	0	0	7057	1357	47	3	2167	3	HEATR4	14	73987652	Nonsense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	243798	73987652	33361888	168	38019											
TSHR	7253	genome.wustl.edu	37	chr14	81558920	81558920	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtcaatccctgtgaatgcTtttcagggactatgcaatga	11	12	9	9	1	2	2	2	2	0	0	3	3	3	3	1	1	2	2	1	1	4	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr14:81558920T>C	ENST00000541158.2	+	7	835	c.513T>C	c.(511-513)gcT>gcC	p.A171A	TSHR_ENST00000554263.1_Silent_p.A171A|TSHR_ENST00000298171.2_Silent_p.A171A|TSHR_ENST00000342443.6_Silent_p.A171A|TSHR_ENST00000554435.1_Silent_p.A171A			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	171					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)	CTGTGAATGCTTTTCAGGGAC	0.383			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													205	181	189					14																	81558920		2203	4300	6503	SO:0001819	synonymous_variant	0			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.513T>C	14.37:g.81558920T>C			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.A171	ENST00000541158.2	37	c.513	CCDS9872.1	14																																																																																			TSHR	-	NULL	ENSG00000165409		0.383	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	-	0	35	0	T	NM_000369		81558920	1	tier1	-	no_errors	ENST00000298171	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.994	C	C	81558920	T	C	81558920	2	2	149	1	0	0	0	0	0	0	0	1	16670	1596	56	4		4	TSHR	14	81558920	Silent	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	7571268	81558920	25790620	169	38020											
CYFIP1	23191	genome.wustl.edu	37	chr15	22933760	22933760	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcagtctctgcagcagCagctcgaagtgatttctggc	7	13	11	10	1	3	1	1	1	2	0	5	2	3	1	0	1	4	5	0	1	1	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:22933760C>T	ENST00000313077.7	+	8	804	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	CYFIP1_ENST00000560848.1_Nonsense_Mutation_p.Q227*	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCTGCAGCAGCAGCTCGAAGT	0.537																																																	0													115	116	116					15																	22933760		2203	4300	6503	SO:0001587	stop_gained	0			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.679C>T	15.37:g.22933760C>T	ENSP00000324549:p.Gln227*			Nonsense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.Q227*	ENST00000313077.7	37	c.679	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.551234	0.97658	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-35.2259	19.7269	0.96168	0.0:1.0:0.0:0.0	.	.	.	.	X	227;255	.	ENSP00000324549:Q227X	Q	+	1	0	CYFIP1	20485201	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	7.692000	0.84203	2.675000	0.91044	0.555000	0.69702	CAG	CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.537	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	-	0	38	0	C	NM_014608		22933760	1	tier1	-	no_errors	ENST00000313077	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	1.000	T	T	22933760	C	T	22933760	4	4	149	1	0	0	0	0	0	1	0	0	4146	711	25	3	705	3	CYFIP1	15	22933760	Nonsense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09		22933760	79597632	170	38021											
MKRN3	7681	genome.wustl.edu	37	chr15	23811272	23811272	+	Missense_Mutation	SNP	T	T	C	0	1	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	agtgcaaggagggggagaacTgtcgctattcgcacgacctt	10	8	14	9	3	0	1	0	0	0	1	2	4	0	2	1	3	2	3	1	3	3	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:23811272T>C	ENST00000314520.3	+	1	819	c.343T>C	c.(343-345)Tgt>Cgt	p.C115R	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	115					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGGGGAGAACTGTCGCTATTC	0.602																																																	0													61	62	62					15																	23811272		2203	4300	6503	SO:0001583	missense	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.343T>C	15.37:g.23811272T>C	ENSP00000313881:p.Cys115Arg			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.C115R	ENST00000314520.3	37	c.343	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270158	0.80469	.	.	ENSG00000179455	ENST00000314520	T	0.72835	-0.69	3.94	3.94	0.45596	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80942	-0.1157	10	0.87932	D	0	.	9.5086	0.39062	0.0:0.0:0.0:1.0	.	115	Q13064	MKRN3_HUMAN	R	115	ENSP00000313881:C115R	ENSP00000313881:C115R	C	+	1	0	MKRN3	21362365	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	5.968000	0.70413	2.023000	0.59567	0.460000	0.39030	TGT	MKRN3	-	smart_Znf_CCCH	ENSG00000179455		0.602	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	-	0	60	0	T	NM_005664		23811272	1	tier1	-	no_errors	ENST00000314520	ensembl	human	known	74_37	missense	86.05	6	37	SNP	1.000	C	C	23811272	T	C	23811272	3	2	149	1	0	0	0	0	1	0	0	0	9646	1580	55	4	345	4	MKRN3	15	23811272	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	877512	23811272	78720120	171	38022											
RYR3	6263	genome.wustl.edu	37	chr15	33952554	33952554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccgagcgtgtgagcgagCgccacggctgggtggtgcag	7	5	19	10	5	0	2	0	1	0	1	0	4	0	2	2	3	4	2	2	3	0	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:33952554C>T	ENST00000389232.4	+	34	4622	c.4552C>T	c.(4552-4554)Cgc>Tgc	p.R1518C	RYR3_ENST00000415757.3_Missense_Mutation_p.R1518C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1518	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)		TGTGAGCGAGCGCCACGGCTG	0.657																																																	0													21	24	23					15																	33952554		2165	4276	6441	SO:0001583	missense	0				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.4552C>T	15.37:g.33952554C>T	ENSP00000373884:p.Arg1518Cys		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R1518C	ENST00000389232.4	37	c.4552	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659498	0.67586	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96940	-4.18;-4.18	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.985	D	0.97286	0.9921	10	0.46703	T	0.11	.	13.1555	0.59514	0.1595:0.8404:0.0:0.0	.	1518;1518	Q15413-2;Q15413	.;RYR3_HUMAN	C	1518	ENSP00000373884:R1518C;ENSP00000399610:R1518C	ENSP00000354735:R1518C	R	+	1	0	RYR3	31739846	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.735000	0.55044	2.515000	0.84797	0.655000	0.94253	CGC	RYR3	-	NULL	ENSG00000198838		0.657	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1		0	37	0	C			33952554	1			no_errors	ENST00000389232	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	33952554	C	T	33952554	3	4	149	1	0	0	0	0	1	0	0	0	13815	768	27	1	4686	1	RYR3	15	33952554	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	10141282	33952554	68578838	172	38023											
RYR3	6263	genome.wustl.edu	37	chr15	34150114	34150114	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	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	gaagtgcgacgacatgatgaCggtgagagcccacccactgc	11	5	13	12	3	0	3	0	3	0	1	0	7	0	3	2	1	3	0	2	1	1	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:34150114C>T	ENST00000389232.4	+	99	14211	c.14141C>T	c.(14140-14142)aCg>aTg	p.T4714M	RP11-3D4.2_ENST00000560268.1_RNA|RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Splice_Site_p.T4709M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4714					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACATGATGACGGTGAGAGCC	0.582																																																	0													59	61	60					15																	34150114		2155	4275	6430	SO:0001630	splice_region_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14142+1C>T	15.37:g.34150114C>T			O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.T4714M	ENST00000389232.4	37	c.14141	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360006	0.82353	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98585	-5.01	4.75	4.75	0.60458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97442	0.9163	L	0.39514	1.22	0.58432	D	0.999999	B;P	0.43662	0.088;0.814	B;P	0.50659	0.021;0.647	D	0.97072	0.9778	10	0.36615	T	0.2	.	18.3173	0.90225	0.0:1.0:0.0:0.0	.	4709;4714	Q15413-2;Q15413	.;RYR3_HUMAN	M	4714;4710	ENSP00000373884:T4714M	ENSP00000354735:T4710M	T	+	2	0	RYR3	31937406	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.487000	0.81328	2.624000	0.88883	0.655000	0.94253	ACG	RYR3	-	pfam_Ion_trans_dom	ENSG00000198838		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	42	0	C		Missense_Mutation	34150114	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	63.33	11	19	SNP	1.000	T	T	34150114	C	T	34150114	5	4	149	1	0	0	0	0	0	0	1	0	13815	550	19	1	14535	1	RYR3	15	34150114	Splice_Site	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	197560	34150114	68381278	173	38024											
PAK6	56924	genome.wustl.edu	37	chr15	40558100	40558100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatctcggggctgctcaacGacatccagaagttgtcagtc	10	9	10	12	2	3	1	2	0	1	1	6	2	4	1	1	2	2	3	1	2	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:40558100G>A	ENST00000542403.2	+	3	373	c.262G>A	c.(262-264)Gac>Aac	p.D88N	PAK6_ENST00000260404.4_Missense_Mutation_p.D88N|PAK6_ENST00000453867.1_Missense_Mutation_p.D88N|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.D88N|PAK6_ENST00000455577.2_Missense_Mutation_p.D88N|PAK6_ENST00000560346.1_Missense_Mutation_p.D88N	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	88	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GCTGCTCAACGACATCCAGAA	0.637																																																	0													39	27	31					15																	40558100		2196	4290	6486	SO:0001583	missense	0			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.262G>A	15.37:g.40558100G>A	ENSP00000439597:p.Asp88Asn		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.D88N	ENST00000542403.2	37	c.262	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	g	22.6	4.306573	0.81247	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.73575	-0.73;-0.73;-0.76;-0.73;-0.73	5.23	5.23	0.72850	.	0.046556	0.85682	D	0.000000	D	0.83677	0.5306	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69142	0.916;0.962	T	0.80656	-0.1285	10	0.25751	T	0.34	.	18.807	0.92041	0.0:0.0:1.0:0.0	.	88;88	Q9NQU5;G5E9R2	PAK6_HUMAN;.	N	88	ENSP00000406873:D88N;ENSP00000401153:D88N;ENSP00000409465:D88N;ENSP00000260404:D88N;ENSP00000439597:D88N	ENSP00000260404:D88N	D	+	1	0	PAK6	38345392	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.810000	0.99221	2.458000	0.83093	0.556000	0.70494	GAC	PAK6	-	NULL	ENSG00000137843		0.637	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	-	0	44	0	G			40558100	1	tier1	-	no_errors	ENST00000260404	ensembl	human	known	74_37	missense	50.00	15	15	SNP	1.000	A	A	40558100	G	A	40558100	3	1	149	1	0	0	0	0	1	0	0	0	11443	1058	37	1	268	1	PAK6	15	40558100	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	6407986	40558100	61973292	174	38025											
VPS18	57617	genome.wustl.edu	37	chr15	41195002	41195002	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcccttctttcctgatttCgtcaccatcgaccacttcaa	7	14	4	16	2	3	1	2	1	1	0	6	2	4	1	4	0	1	0	4	0	1	4	rs550091305	byFrequency	TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:41195002C>T	ENST00000220509.5	+	5	2724	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	795					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)		TTCCTGATTTCGTCACCATCG	0.552													C|||	5	0.000998403	0	0	5008	,	,		21066	0		0	False		,,,				2504	0.0051																0													123	125	124					15																	41195002		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2385C>T	15.37:g.41195002C>T			Q8TCG0|Q96DI3|Q9H268	Silent	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.F795	ENST00000220509.5	37	c.2385	CCDS10069.1	15																																																																																			VPS18	-	NULL	ENSG00000104142		0.552	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	-	0	28	0	C			41195002	1	tier1	-	no_errors	ENST00000220509	ensembl	human	known	74_37	silent	26.92	19	7	SNP	0.983	T	T	41195002	C	T	41195002	2	4	149	1	0	0	0	0	0	0	0	1	17243	883	31	1		1	VPS18	15	41195002	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	636902	41195002	61336390	175	38026											
USP8	9101	genome.wustl.edu	37	chr15	50784955	50784955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgcttctcagattcggaaCctcaatcctgtttttggagg	7	15	9	10	1	3	1	2	0	2	1	6	3	4	3	2	3	2	2	2	3	2	4	rs74840283		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:50784955C>A	ENST00000396444.3	+	15	2630	c.2292C>A	c.(2290-2292)aaC>aaA	p.N764K	USP8_ENST00000433963.1_Missense_Mutation_p.N764K|USP8_ENST00000307179.4_Missense_Mutation_p.N764K|USP8_ENST00000425032.3_Missense_Mutation_p.N658K|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	764					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGATTCGGAACCTCAATCCTG	0.408																																																	0													135	121	126					15																	50784955		2196	4294	6490	SO:0001583	missense	0			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.2292C>A	15.37:g.50784955C>A	ENSP00000379721:p.Asn764Lys		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.N764K	ENST00000396444.3	37	c.2292	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650128	0.67472	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.18174	2.23;2.23;2.23;2.27	5.22	2.26	0.28386	.	0.395808	0.31859	N	0.006953	T	0.09069	0.0224	N	0.24115	0.695	0.48696	D	0.999694	B;B	0.26672	0.083;0.156	B;B	0.21546	0.035;0.03	T	0.19224	-1.0312	10	0.10902	T	0.67	-18.6446	9.071	0.36493	0.0:0.5813:0.0:0.4187	.	658;764	B4DKA8;P40818	.;UBP8_HUMAN	K	764;764;764;658	ENSP00000379721:N764K;ENSP00000405537:N764K;ENSP00000302239:N764K;ENSP00000412682:N658K	ENSP00000302239:N764K	N	+	3	2	USP8	48572247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.755000	0.26405	0.695000	0.31675	0.650000	0.86243	AAC	USP8	-	NULL	ENSG00000138592		0.408	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1		0	26	0	C	NM_005154		50784955	1			no_errors	ENST00000307179	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	A	A	50784955	C	A	50784955	3	1	149	1	0	0	0	0	1	0	0	0	17138	506	18	3	2346	3	USP8	15	50784955	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	9589953	50784955	51746437	176	38027											
CGNL1	84952	genome.wustl.edu	37	chr15	57753959	57753959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcttgagaaagcgagagCgtgaactcaccgccctgaag	12	6	11	12	3	2	4	1	3	1	2	2	6	2	4	3	0	3	0	3	0	3	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:57753959C>T	ENST00000281282.5	+	8	2350	c.2272C>T	c.(2272-2274)Cgt>Tgt	p.R758C		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	758						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)		AAAGCGAGAGCGTGAACTCAC	0.502																																																	0													103	98	100					15																	57753959		2192	4292	6484	SO:0001583	missense	0			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.2272C>T	15.37:g.57753959C>T	ENSP00000281282:p.Arg758Cys		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.R758C	ENST00000281282.5	37	c.2272	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397637	0.62177	.	.	ENSG00000128849	ENST00000281282	T	0.44881	0.91	5.52	4.6	0.57074	.	0.000000	0.52532	D	0.000064	T	0.58104	0.2099	M	0.78456	2.415	0.58432	D	0.999995	D	0.76494	0.999	P	0.53954	0.738	T	0.66044	-0.6021	10	0.87932	D	0	-8.8821	14.9074	0.70730	0.2591:0.7409:0.0:0.0	.	758	Q0VF96	CGNL1_HUMAN	C	758	ENSP00000281282:R758C	ENSP00000281282:R758C	R	+	1	0	CGNL1	55541251	1.000000	0.71417	0.994000	0.49952	0.816000	0.46133	2.461000	0.45040	1.316000	0.45131	0.448000	0.29417	CGT	CGNL1	-	NULL	ENSG00000128849		0.502	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	-	0	45	0	C	NM_032866		57753959	1	tier1	-	no_errors	ENST00000281282	ensembl	human	known	74_37	missense	61.90	8	13	SNP	1.000	T	T	57753959	C	T	57753959	3	4	149	1	0	0	0	0	1	0	0	0	3311	768	27	1	2298	1	CGNL1	15	57753959	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	6969004	57753959	44777433	177	38028											
C15orf44	81556	genome.wustl.edu	37	chr15	65884002	65884002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggccaggctcaaagaGagacatcatgaggtttgatt	11	11	12	7	0	3	4	2	2	1	2	3	5	3	4	1	3	0	2	1	3	1	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr15:65884002G>T	ENST00000395644.4	-	9	1389	c.1054C>A	c.(1054-1056)Ctc>Atc	p.L352I	VWA9_ENST00000569491.1_Missense_Mutation_p.L302I|VWA9_ENST00000567744.1_Missense_Mutation_p.L388I|VWA9_ENST00000431261.2_Missense_Mutation_p.L273I|VWA9_ENST00000420799.2_Missense_Mutation_p.L295I|VWA9_ENST00000313182.2_Missense_Mutation_p.L352I|VWA9_ENST00000442903.3_Missense_Mutation_p.L316I			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	352																	GGCTCAAAGAGAGACATCATG	0.458																																																	0													139	119	126					15																	65884002		2201	4299	6500	SO:0001583	missense	0			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1054C>A	15.37:g.65884002G>T	ENSP00000379006:p.Leu352Ile		B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	NULL	p.L388I	ENST00000395644.4	37	c.1162		15	.	.	.	.	.	.	.	.	.	.	G	9.558	1.117658	0.20877	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	6.03	6.03	0.97812	.	0.056779	0.64402	D	0.000001	T	0.35770	0.0943	N	0.04636	-0.2	0.58432	D	0.999996	B;B;B;B	0.11235	0.004;0.004;0.002;0.002	B;B;B;B	0.14578	0.011;0.009;0.002;0.001	T	0.39981	-0.9587	9	0.02654	T	1	-22.2025	20.5568	0.99304	0.0:0.0:1.0:0.0	.	302;316;388;352	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	I	352;352;273;295;316	.	ENSP00000326379:L352I	L	-	1	0	C15orf44	63671055	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.615000	0.61190	2.861000	0.98227	0.655000	0.94253	CTC	VWA9	-	NULL	ENSG00000138614		0.458	VWA9-201	KNOWN	basic|appris_principal	protein_coding	VWA9	HGNC	protein_coding	OTTHUMT00000420604.3	-	0	61	0	G	NM_030800		65884002	-1	tier1	-	no_errors	ENST00000567744	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	65884002	G	T	65884002	3	4	149	1	0	0	0	0	1	0	0	0	1803	942	33	3	518	3	C15orf44	15	65884002	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	8130043	65884002	36647390	178	38029											
TPSB2	64499	genome.wustl.edu	37	chr16	1279206	1279206	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaccatcattgtccacatCgccccagccagtgacccagc	9	6	6	20	1	1	1	1	1	0	0	3	1	2	1	7	0	2	0	7	0	0	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:1279206C>T	ENST00000339687.6	-	0	507				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)				TTGTCCACATCGCCCCAGCCA	0.687																																																	0													5	6	6					16																	1279206		442	1442	1884			0			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.1279206C>T			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.D161N	ENST00000339687.6	37	c.481		16	.	.	.	.	.	.	.	.	.	.	C	2.321	-0.355646	0.05138	.	.	ENSG00000197253	ENST00000430512	D	0.87571	-2.27	3.58	0.181	0.15073	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.403267	0.20801	N	0.085431	T	0.64853	0.2636	.	.	.	0.09310	N	1	B	0.28208	0.203	B	0.24848	0.056	T	0.53272	-0.8462	9	0.08179	T	0.78	.	0.8142	0.01099	0.1846:0.3969:0.1811:0.2374	.	162	P20231	TRYB2_HUMAN	N	161	ENSP00000412409:D161N	ENSP00000412409:D161N	D	-	1	0	TPSB2	1219207	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.423000	0.01030	-0.170000	0.10816	0.455000	0.32223	GAT	TPSB2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000197253		0.687	TPSB2-002	KNOWN	basic	processed_transcript	TPSB2	HGNC	polymorphic_pseudogene	OTTHUMT00000342364.1	-	0	20	0	C	NM_024164		1279206	-1	tier1	-	no_errors	ENST00000430512	ensembl	human	known	74_37	missense	89.47	2	17	SNP	0.000	T	T	1279206	C	T	1279206	1	4	149	0	1	0	0	0	0	0	0	0	16472	884	31	1		1	TPSB2	16	1279206	RNA	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09		1279206	89075547	179	38030											
NSMCE1	197370	genome.wustl.edu	37	chr16	27238129	27238129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatctccaggatggccCggccgtgcagggtgaactcc	6	7	13	15	2	1	1	0	1	1	0	4	2	3	2	5	4	2	2	5	4	1	0	rs376178703		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:27238129C>T	ENST00000361439.4	-	6	611	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	171					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R171Q(1)		endometrium(2)|large_intestine(2)|lung(3)	7						CAGGATGGCCCGGCCGTGCAG	0.617													C|||	1	0.000199681	0	0.0014	5008	,	,		20401	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	endometrium(1)						C	GLN/ARG	0,4164		0,0,2082	113	121	118		512	5.4	1	16		118	1,8409		0,1,4204	no	missense	NSMCE1	NM_145080.3	43	0,1,6286	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	171/267	27238129	1,12573	2082	4205	6287	SO:0001583	missense	0			AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.512G>A	16.37:g.27238129C>T	ENSP00000355077:p.Arg171Gln		D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP	pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING	p.R171Q	ENST00000361439.4	37	c.512	CCDS10628.2	16	.	.	.	.	.	.	.	.	.	.	C	35	5.459023	0.96240	0.0	1.19E-4	ENSG00000169189	ENST00000361439	T	0.58060	0.36	5.42	5.42	0.78866	.	0.054186	0.85682	D	0.000000	T	0.68723	0.3032	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70633	-0.4818	10	0.72032	D	0.01	-26.2885	17.784	0.88532	0.0:1.0:0.0:0.0	.	171	Q8WV22	NSE1_HUMAN	Q	171	ENSP00000355077:R171Q	ENSP00000355077:R171Q	R	-	2	0	NSMCE1	27145630	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.981000	0.70524	2.529000	0.85273	0.561000	0.74099	CGG	NSMCE1	-	pfam_Nse1	ENSG00000169189		0.617	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE1	HGNC	protein_coding	OTTHUMT00000254577.3		0	42	0	C	NM_145080		27238129	-1			no_errors	ENST00000361439	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	27238129	C	T	27238129	3	4	149	1	0	0	0	0	1	0	0	0	10714	652	23	1	300	1	NSMCE1	16	27238129	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	25958923	27238129	63116624	180	38031											
ITGAL	3683	genome.wustl.edu	37	chr16	30490734	30490734	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcagaaaattctGgacttcatgaaggatgtgat	14	13	10	4	0	3	4	2	3	1	1	3	7	3	6	0	2	0	0	0	2	4	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:30490734G>A	ENST00000356798.6	+	6	708	c.528G>A	c.(526-528)ctG>ctA	p.L176L	ITGAL_ENST00000433423.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Intron|ITGAL_ENST00000358164.5_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	176	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AGAAAATTCTGGACTTCATGA	0.423																																					NSCLC(110;1462 1641 3311 33990 49495)												0													93	84	87					16																	30490734		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.528G>A	16.37:g.30490734G>A			O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.L176	ENST00000356798.6	37	c.528	CCDS32433.1	16																																																																																			ITGAL	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000005844		0.423	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	-	0	34	0	G			30490734	1	tier1	-	no_errors	ENST00000356798	ensembl	human	known	74_37	silent	19.15	38	9	SNP	0.997	A	A	30490734	G	A	30490734	2	1	149	1	0	0	0	0	0	0	0	1	7913	1335	47	3		3	ITGAL	16	30490734	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	3252605	30490734	59864019	181	38032											
DPEP3	64180	genome.wustl.edu	37	chr16	68012481	68012481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctgctccagggcgaggcGcacggcagtctggtcctggg	6	7	16	12	3	2	0	0	0	2	0	4	1	4	0	2	5	1	3	2	5	1	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:68012481G>A	ENST00000268793.4	-	3	911	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	155					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)	p.R180S(1)		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)		AGGGCGAGGCGCACGGCAGTC	0.607																																																	1	Substitution - Missense(1)	lung(1)											149	131	137					16																	68012481		2198	4300	6498	SO:0001583	missense	0			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.538C>T	16.37:g.68012481G>A	ENSP00000268793:p.Arg180Cys		B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	pfam_Peptidase_M19	p.R180C	ENST00000268793.4	37	c.538	CCDS10856.1	16	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444005	0.63067	.	.	ENSG00000141096	ENST00000268793	T	0.24908	1.83	4.88	4.88	0.63580	.	0.120700	0.50627	D	0.000107	T	0.58652	0.2137	H	0.94658	3.565	0.58432	D	0.999998	D	0.89917	1.0	D	0.69479	0.964	T	0.69109	-0.5232	10	0.87932	D	0	.	10.7548	0.46230	0.0:0.0:0.8101:0.1899	.	155	Q9H4B8	DPEP3_HUMAN	C	180	ENSP00000268793:R180C	ENSP00000268793:R180C	R	-	1	0	DPEP3	66569982	1.000000	0.71417	0.860000	0.33809	0.658000	0.38924	2.169000	0.42434	2.269000	0.75478	0.561000	0.74099	CGC	DPEP3	-	pfam_Peptidase_M19	ENSG00000141096		0.607	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	-	0	58	0	G	NM_022357		68012481	-1	tier1	-	no_errors	ENST00000268793	ensembl	human	known	74_37	missense	63.16	14	24	SNP	0.997	A	A	68012481	G	A	68012481	3	1	149	1	0	0	0	0	1	0	0	0	4729	1087	38	1	1035	1	DPEP3	16	68012481	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	37521747	68012481	22342272	182	38033											
IL34	146433	genome.wustl.edu	37	chr16	70693596	70693596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaaacctgaagctggtgCggcccaaagccctgctggac	9	5	13	14	1	0	1	0	1	0	0	0	2	0	2	4	4	5	2	4	4	3	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr16:70693596C>T	ENST00000288098.2	+	5	861	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	IL34_ENST00000429149.2_Missense_Mutation_p.R160W|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000566361.1_Missense_Mutation_p.R135W	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	160					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GAAGCTGGTGCGGCCCAAAGC	0.612																																																	0													56	50	52					16																	70693596		2198	4300	6498	SO:0001583	missense	0			BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.478C>T	16.37:g.70693596C>T	ENSP00000288098:p.Arg160Trp		B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	prints_IL-34	p.R160W	ENST00000288098.2	37	c.478	CCDS10895.1	16	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838405	0.71373	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.51817	0.69;0.69	5.08	2.83	0.33086	.	0.108239	0.36519	N	0.002557	T	0.65821	0.2728	M	0.76574	2.34	0.30579	N	0.762698	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.68918	-0.5282	10	0.87932	D	0	-19.226	12.4832	0.55856	0.3145:0.6855:0.0:0.0	.	159;160	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	W	160	ENSP00000397863:R160W;ENSP00000288098:R160W	ENSP00000288098:R160W	R	+	1	2	IL34	69251097	0.994000	0.37717	1.000000	0.80357	0.905000	0.53344	0.719000	0.25881	1.072000	0.40860	0.462000	0.41574	CGG	IL34	-	NULL	ENSG00000157368		0.612	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL34	HGNC	protein_coding	OTTHUMT00000268971.3	-	0	51	0	C	NM_152456		70693596	1	tier1	-	no_errors	ENST00000288098	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	70693596	C	T	70693596	3	4	149	1	0	0	0	0	1	0	0	0	7721	759	27	1	496	1	IL34	16	70693596	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	2681115	70693596	19661157	183	38034											
WDR81	124997	genome.wustl.edu	37	chr17	1637131	1637131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgggagcgacgacaaCgccctgaagcaggagctgcc	10	2	16	13	4	0	1	0	1	0	0	0	5	0	3	2	3	6	3	2	3	2	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:1637131C>T	ENST00000409644.1	+	7	4800	c.4800C>T	c.(4798-4800)aaC>aaT	p.N1600N	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Silent_p.N397N|WDR81_ENST00000446363.1_Silent_p.N239N|WDR81_ENST00000419248.1_Silent_p.N373N|WDR81_ENST00000545662.1_Silent_p.N231N|WDR81_ENST00000309182.5_Silent_p.N549N	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1600					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)		GCGACGACAACGCCCTGAAGC	0.682																																																	0													46	49	48					17																	1637131		2203	4297	6500	SO:0001819	synonymous_variant	0			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.4800C>T	17.37:g.1637131C>T			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N1600	ENST00000409644.1	37	c.4800	CCDS54062.1	17																																																																																			WDR81	-	NULL	ENSG00000167716		0.682	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	-	0	79	0	C	NM_152348		1637131	1	tier1	-	no_errors	ENST00000409644	ensembl	human	known	74_37	silent	51.32	37	39	SNP	0.462	T	T	1637131	C	T	1637131	2	4	149	1	0	0	0	0	0	0	0	1	17379	535	19	1		1	WDR81	17	1637131	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09		1637131	79558079	184	38035											
RPA1	6117	genome.wustl.edu	37	chr17	1756455	1756455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagcagttggagtgaaGattggcaatccagtgcccta	11	9	13	8	0	0	3	0	2	0	1	1	4	1	4	2	2	2	4	2	2	4	3	rs368130064		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:1756455G>T	ENST00000254719.5	+	5	443	c.333G>T	c.(331-333)aaG>aaT	p.K111N		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	111					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						TTGGAGTGAAGATTGGCAATC	0.383								Nucleotide excision repair (NER)																																									0													162	161	161					17																	1756455		2203	4300	6503	SO:0001583	missense	0			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.333G>T	17.37:g.1756455G>T	ENSP00000254719:p.Lys111Asn		A8K0Y9|Q59ES9	Missense_Mutation	SNP	pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	p.K111N	ENST00000254719.5	37	c.333	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946626	0.53186	.	.	ENSG00000132383	ENST00000254719	T	0.50813	0.73	5.89	4.93	0.64822	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.155450	0.56097	D	0.000025	T	0.44623	0.1302	M	0.79475	2.455	0.47905	D	0.999544	P	0.39809	0.689	B	0.33799	0.17	T	0.42716	-0.9435	10	0.26408	T	0.33	-23.686	10.8237	0.46620	0.1516:0.0:0.8484:0.0	.	111	P27694	RFA1_HUMAN	N	111	ENSP00000254719:K111N	ENSP00000254719:K111N	K	+	3	2	RPA1	1703205	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.172000	0.42463	1.503000	0.48686	0.585000	0.79938	AAG	RPA1	-	superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	ENSG00000132383		0.383	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	-	0	31	0	G	NM_002945		1756455	1	tier1	-	no_errors	ENST00000254719	ensembl	human	known	74_37	missense	60.00	12	18	SNP	1.000	T	T	1756455	G	T	1756455	3	4	149	1	0	0	0	0	1	0	0	0	13581	933	33	3	351	3	RPA1	17	1756455	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	119324	1756455	79438755	185	38036											
TP53	7157	genome.wustl.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	0	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	GMAF=0.0005	0	17	0	C	NM_000546		7577120	-1	tier1	rs28934576	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.864	T	T	7577120	C	T	7577120	3	4	149	1	0	0	0	0	1	0	0	0	16429	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	5820665	7577120	73618090	186	38037											
TP53	7157	genome.wustl.edu	37	chr17	7579536	7579536	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcagtgaaccattgttCaatatcgtccggggacagca	10	11	10	10	2	3	1	2	1	1	0	5	2	4	2	2	2	2	2	2	2	3	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:7579536C>A	ENST00000269305.4	-	4	340	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E51*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E51*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E51*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.E51*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E51*	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	51	Interaction with HRMT1L2.				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.E51*(6)|p.E51fs*6(3)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.E51fs*72(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACCATTGTTCAATATCGTCC	0.592		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"	23	Whole gene deletion(8)|Substitution - Nonsense(6)|Deletion - Frameshift(6)|Insertion - Frameshift(3)	ovary(5)|bone(4)|skin(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|kidney(1)|breast(1)|prostate(1)|pancreas(1)											169	168	168					17																	7579536		2203	4300	6503	SO:0001587	stop_gained	0	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.151G>T	17.37:g.7579536C>A	ENSP00000269305:p.Glu51*		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E51*	ENST00000269305.4	37	c.151	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718125	0.48622	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.77	0.663	0.17885	.	1.997220	0.02241	N	0.065738	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	0.6634	5.7343	0.18057	0.0:0.6465:0.0:0.3535	.	.	.	.	X	51	.	ENSP00000269305:E51X	E	-	1	0	TP53	7520261	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.943000	0.03917	0.194000	0.20326	0.561000	0.74099	GAA	TP53	-	NULL	ENSG00000141510		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	68	0	C	NM_000546		7579536	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	26.67	44	16	SNP	0.001	A	A	7579536	C	A	7579536	4	1	149	1	0	0	0	0	0	1	0	0	16429	835	29	3	1151	3	TP53	17	7579536	Nonsense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	2416	7579536	73615674	187	38038											
MYH1	4619	genome.wustl.edu	37	chr17	10408741	10408741	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttatactgggtgtggtcaatGtcaatggaccccaggagctt	9	12	12	8	0	2	0	2	0	0	0	2	2	2	2	2	4	2	1	2	4	4	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:10408741G>T	ENST00000226207.5	-	20	2356	c.2262C>A	c.(2260-2262)gaC>gaA	p.D754E	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	754	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTGGTCAATGTCAATGGACC	0.408																																																	0													119	116	117					17																	10408741		2203	4300	6503	SO:0001583	missense	0				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.2262C>A	17.37:g.10408741G>T	ENSP00000226207:p.Asp754Glu		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D754E	ENST00000226207.5	37	c.2262	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	4.196	0.035068	0.08101	.	.	ENSG00000109061	ENST00000226207	D	0.86769	-2.17	5.47	-8.95	0.00765	Myosin head, motor domain (2);	0.000000	0.44902	U	0.000417	T	0.70649	0.3248	N	0.12887	0.27	0.25714	N	0.985459	B	0.02656	0.0	B	0.04013	0.001	T	0.30031	-0.9992	10	0.24483	T	0.36	.	17.9337	0.89006	0.6072:0.0:0.3928:0.0	.	754	P12882	MYH1_HUMAN	E	754	ENSP00000226207:D754E	ENSP00000226207:D754E	D	-	3	2	MYH1	10349466	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.493000	0.06459	-2.053000	0.00901	-2.084000	0.00378	GAC	MYH1	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000109061		0.408	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1		0	34	0	G	NM_005963		10408741	-1			no_errors	ENST00000226207	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.000	T	T	10408741	G	T	10408741	3	4	149	1	0	0	0	0	1	0	0	0	10067	1368	48	3	3641	3	MYH1	17	10408741	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	2829205	10408741	70786469	188	38039											
MAP2K4	6416	genome.wustl.edu	37	chr17	12044531	12044531	+	Missense_Mutation	SNP	T	T	A	0	1	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	atgctatgtttgtaaaatccTggatcaaatgccagctactc	12	13	7	9	0	1	0	1	0	0	0	3	1	2	1	2	1	4	4	2	1	5	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:12044531T>A	ENST00000353533.5	+	11	1217	c.1154T>A	c.(1153-1155)cTg>cAg	p.L385Q	MAP2K4_ENST00000415385.3_Missense_Mutation_p.L396Q	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	385	DVD domain.				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.?(2)		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)		TGTAAAATCCTGGATCAAATG	0.408			"D, Mis, N"		"pancreatic, breast, colorectal"																																			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	12	Whole gene deletion(10)|Unknown(2)	ovary(4)|breast(4)|pancreas(2)|biliary_tract(1)|lung(1)											150	129	136					17																	12044531		2203	4299	6502	SO:0001583	missense	0			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.1154T>A	17.37:g.12044531T>A	ENSP00000262445:p.Leu385Gln		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L396Q	ENST00000353533.5	37	c.1187	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275928	0.80580	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.73897	-0.71;-0.79	5.53	4.44	0.53790	Protein kinase-like domain (1);	0.139093	0.50627	D	0.000117	D	0.83644	0.5299	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.979;1.0;0.999	P;D;D	0.71414	0.769;0.973;0.941	D	0.84809	0.0789	10	0.87932	D	0	.	11.8368	0.52330	0.0:0.0:0.1469:0.8531	.	257;396;385	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	Q	385;396;362;257	ENSP00000262445:L385Q;ENSP00000410402:L396Q	ENSP00000262445:L385Q	L	+	2	0	MAP2K4	11985256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.864000	0.87037	1.083000	0.41159	0.528000	0.53228	CTG	MAP2K4	-	superfamily_Kinase-like_dom	ENSG00000065559		0.408	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1		0	38	0	T			12044531	1			no_errors	ENST00000415385	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	A	A	12044531	T	A	12044531	3	1	149	1	0	0	0	0	1	0	0	0	9277	1580	55	5	1196	5	MAP2K4	17	12044531	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	1635790	12044531	69150679	189	38040											
RAI1	10743	genome.wustl.edu	37	chr17	17700071	17700071	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgagggttcccccaccctctTcaagaggatgtcttctccca	7	11	8	15	0	4	2	1	1	3	1	6	3	5	3	4	2	0	1	4	2	1	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:17700071T>C	ENST00000353383.1	+	3	4278	c.3809T>C	c.(3808-3810)tTc>tCc	p.F1270S	RAI1_ENST00000261641.6_Missense_Mutation_p.F1270S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1270					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)		CCCACCCTCTTCAAGAGGATG	0.637																																																	0													48	55	53					17																	17700071		2203	4299	6502	SO:0001583	missense	0			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.3809T>C	17.37:g.17700071T>C	ENSP00000323074:p.Phe1270Ser		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	smart_Znf_PHD	p.F1270S	ENST00000353383.1	37	c.3809	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	T	11.95	1.790994	0.31685	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.67345	-0.26;0.32	4.46	4.46	0.54185	.	0.512970	0.17847	N	0.159993	T	0.61776	0.2374	L	0.56769	1.78	0.26639	N	0.972312	P	0.39391	0.671	B	0.35413	0.202	T	0.59731	-0.7399	10	0.49607	T	0.09	.	13.7243	0.62748	0.0:0.0:0.0:1.0	.	1270	Q7Z5J4	RAI1_HUMAN	S	1270;1270;1270;1222	ENSP00000323074:F1270S;ENSP00000261641:F1270S	ENSP00000261641:F1270S	F	+	2	0	RAI1	17640796	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	4.501000	0.60393	1.653000	0.50694	0.260000	0.18958	TTC	RAI1	-	NULL	ENSG00000108557		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1		0	47	0	T	NM_030665		17700071	1			no_errors	ENST00000353383	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	C	C	17700071	T	C	17700071	3	2	149	1	0	0	0	0	1	0	0	0	13052	1783	62	4	3811	4	RAI1	17	17700071	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	5655540	17700071	63495139	190	38041											
LLGL1	3996	genome.wustl.edu	37	chr17	18137690	18137690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgccggcagcttcccaaCgctgcagcccacggtagcca	8	5	12	16	3	0	0	0	0	0	0	1	1	1	1	4	3	6	5	4	3	2	2	rs572067853		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:18137690C>T	ENST00000316843.4	+	7	914	c.818C>T	c.(817-819)aCg>aTg	p.T273M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	273					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)					AGCTTCCCAACGCTGCAGCCC	0.617													C|||	1	0.000199681	0	0	5008	,	,		18256	0.001		0	False		,,,				2504	0																0													26	23	24					17																	18137690		2203	4298	6501	SO:0001583	missense	0				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.818C>T	17.37:g.18137690C>T	ENSP00000321537:p.Thr273Met		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.T273M	ENST00000316843.4	37	c.818	CCDS32586.1	17	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405428	0.25378	.	.	ENSG00000131899	ENST00000316843	T	0.66995	-0.24	5.86	-0.293	0.12835	WD40 repeat-like-containing domain (1);	0.815883	0.11391	N	0.568805	T	0.44117	0.1278	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.12156	0.007	T	0.22626	-1.0211	10	0.37606	T	0.19	0.1604	6.5192	0.22264	0.0:0.5969:0.1159:0.2872	.	273	Q15334	L2GL1_HUMAN	M	273	ENSP00000321537:T273M	ENSP00000321537:T273M	T	+	2	0	LLGL1	18078415	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.461000	0.21940	-0.231000	0.09825	-0.149000	0.13747	ACG	LLGL1	-	superfamily_WD40_repeat_dom	ENSG00000131899		0.617	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	-	0	46	0	C			18137690	1	tier1	-	no_errors	ENST00000316843	ensembl	human	known	74_37	missense	70.97	8	22	SNP	0.000	T	T	18137690	C	T	18137690	3	4	149	1	0	0	0	0	1	0	0	0	8863	536	19	1	844	1	LLGL1	17	18137690	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	437619	18137690	63057520	191	38042											
KCNJ12	3768	genome.wustl.edu	37	chr17	21319233	21319233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaagaagcgggcacagacGctgctgttcagccacaacgc	11	4	11	15	3	1	2	1	0	0	2	1	2	1	2	2	1	4	4	2	1	3	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:21319233G>A	ENST00000583088.1	+	3	1474	c.579G>A	c.(577-579)acG>acA	p.T193T	KCNJ12_ENST00000331718.5_Silent_p.T193T	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	193					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)	GGGCACAGACGCTGCTGTTCA	0.612										Prostate(3;0.18)																																							0													84	75	78					17																	21319233		2203	4300	6503	SO:0001819	synonymous_variant	0			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.579G>A	17.37:g.21319233G>A			O43401|Q15756|Q8NG63	Silent	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.T193	ENST00000583088.1	37	c.579	CCDS11219.1	17																																																																																			KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0	68	0	G	NM_021012		21319233	1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	silent	18.18	36	8	SNP	0.400	A	A	21319233	G	A	21319233	2	1	149	1	0	0	0	0	0	0	0	1	8073	1074	38	1		1	KCNJ12	17	21319233	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	3181543	21319233	59875977	192	38043											
FLOT2	2319	genome.wustl.edu	37	chr17	27207851	27207851	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacaatctcatcgaccttGgtaagtggggcagcgatttt	10	11	10	10	2	1	0	1	0	1	0	3	2	1	0	2	3	1	2	2	3	2	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:27207851G>T	ENST00000394908.4	-	10	1232	c.1128C>A	c.(1126-1128)acC>acA	p.T376T	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394906.2_Silent_p.T431T|FLOT2_ENST00000585169.1_Silent_p.T376T	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	376					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CATCGACCTTGGTAAGTGGGG	0.567																																																	0													126	130	128					17																	27207851		2185	4280	6465	SO:0001819	synonymous_variant	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.1128C>A	17.37:g.27207851G>T				Silent	SNP	pfam_Band_7,smart_Band_7	p.T376	ENST00000394908.4	37	c.1128	CCDS11245.2	17																																																																																			FLOT2	-	NULL	ENSG00000132589		0.567	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	-	0	41	0	G	NM_004475		27207851	-1	tier1	-	no_errors	ENST00000394908	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	T	T	27207851	G	T	27207851	2	4	149	1	0	0	0	0	0	0	0	1	5959	1335	47	3		3	FLOT2	17	27207851	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	5888618	27207851	53987359	193	38044											
ATAD5	79915	genome.wustl.edu	37	chr17	29196273	29196273	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aataatttttcagatttctcGggtggcatagactttaaagg	12	15	9	5	1	2	2	1	0	1	2	3	2	2	2	0	3	0	1	0	3	5	7			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:29196273G>T	ENST00000321990.4	+	13	3699	c.3321G>T	c.(3319-3321)tcG>tcT	p.S1107S		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1107					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)				CAGATTTCTCGGGTGGCATAG	0.393																																																	0													97	94	95					17																	29196273		2203	4300	6503	SO:0001819	synonymous_variant	0				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.3321G>T	17.37:g.29196273G>T			Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S1107	ENST00000321990.4	37	c.3321	CCDS11260.1	17																																																																																			ATAD5	-	superfamily_P-loop_NTPase	ENSG00000176208		0.393	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2		0	28	0	G	NM_024857		29196273	1			no_errors	ENST00000321990	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.000	T	T	29196273	G	T	29196273	2	4	149	1	0	0	0	0	0	0	0	1	1077	1103	39	2		2	ATAD5	17	29196273	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	1988422	29196273	51998937	194	38045											
AP2B1	163	genome.wustl.edu	37	chr17	33953664	33953664	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgagcgggtaactccccgGctatcccatgccaactcagc	8	8	10	15	2	1	1	1	1	0	0	3	1	3	1	4	2	5	2	4	2	3	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:33953664G>A	ENST00000262325.7	+	7	1294	c.741G>A	c.(739-741)cgG>cgA	p.R247R	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Silent_p.R247R|AP2B1_ENST00000312678.8_Silent_p.R247R|AP2B1_ENST00000592545.1_Silent_p.R209R|AP2B1_ENST00000538556.1_Silent_p.R190R|AP2B1_ENST00000589344.1_Silent_p.R247R	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	247					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)		TAACTCCCCGGCTATCCCATG	0.388																																																	0													82	86	85					17																	33953664		2203	4300	6503	SO:0001819	synonymous_variant	0			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.741G>A	17.37:g.33953664G>A			A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.R247	ENST00000262325.7	37	c.741	CCDS32622.1	17																																																																																			AP2B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4	ENSG00000006125		0.388	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	-	0	41	0	G			33953664	1	tier1	-	no_errors	ENST00000312678	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	A	A	33953664	G	A	33953664	2	1	149	1	0	0	0	0	0	0	0	1	741	1190	42	3		3	AP2B1	17	33953664	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	4757391	33953664	47241546	195	38046											
GAS2L2	246176	genome.wustl.edu	37	chr17	34077291	34077291	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacacagcaccacgttcttCacgttcttgcgcagcaccaa	12	8	6	15	3	3	0	1	0	2	0	3	0	3	0	2	0	4	5	2	0	2	4	rs138124177		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:34077291C>T	ENST00000254466.6	-	2	459	c.432G>A	c.(430-432)gtG>gtA	p.V144V	GAS2L2_ENST00000587565.1_Silent_p.V144V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	144	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACGTTCTTCACGTTCTTGC	0.647																																																	0													136	142	140					17																	34077291		2203	4300	6503	SO:0001819	synonymous_variant	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.432G>A	17.37:g.34077291C>T			Q8NHY4	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.V144	ENST00000254466.6	37	c.432	CCDS11298.1	17																																																																																			GAS2L2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000132139		0.647	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	-	0	60	0	C	NM_139285		34077291	-1	tier1	-	no_errors	ENST00000254466	ensembl	human	known	74_37	silent	44.12	38	30	SNP	1.000	T	T	34077291	C	T	34077291	2	4	149	1	0	0	0	0	0	0	0	1	6272	813	29	3		3	GAS2L2	17	34077291	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	123627	34077291	47117919	196	38047											
MYO19	80179	genome.wustl.edu	37	chr17	34858967	34858967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggcaggatatgggctgtCggggccagaggatgtgcaag	8	9	18	6	1	0	1	0	0	0	1	1	3	0	3	1	6	1	3	1	6	2	2	rs199688601		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:34858967C>T	ENST00000431794.3	-	21	2572	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N	MYO19_ENST00000268852.9_Missense_Mutation_p.D484N	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	684	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TATGGGCTGTCGGGGCCAGAG	0.517																																																	0								C	ASN/ASP,ASN/ASP	0,3906		0,0,1953	174	183	180		2050,1450	-3.6	0	17		180	1,8309		0,1,4154	no	missense,missense	MYO19	NM_001163735.1,NM_025109.5	23,23	0,1,6107	TT,TC,CC		0.012,0.0,0.0082	benign,benign	684/971,484/771	34858967	1,12215	1953	4155	6108	SO:0001583	missense	0			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2050G>A	17.37:g.34858967C>T	ENSP00000409936:p.Asp684Asn		Q59GS4|Q9H5X2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D684N	ENST00000431794.3	37	c.2050	CCDS54112.1	17	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076740	0.20227	0.0	1.2E-4	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.89270	-2.3;-2.49	5.25	-3.56	0.04626	Myosin head, motor domain (1);	.	.	.	.	T	0.66655	0.2811	N	0.02011	-0.69	0.09310	N	1	B;B	0.14012	0.0;0.009	B;B	0.11329	0.0;0.006	T	0.55302	-0.8162	9	0.41790	T	0.15	.	2.3545	0.04292	0.2206:0.3566:0.3028:0.12	.	684;484	Q96H55;Q96H55-4	MYO19_HUMAN;.	N	684;484	ENSP00000409936:D684N;ENSP00000268852:D484N	ENSP00000268852:D484N	D	-	1	0	MYO19	31933080	0.001000	0.12720	0.004000	0.12327	0.061000	0.15899	0.013000	0.13310	-0.809000	0.04381	-1.161000	0.01788	GAC	MYO19	-	superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000141140		0.517	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1		0	44	0	C	NM_025109		34858967	-1			no_errors	ENST00000431794	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.001	T	T	34858967	C	T	34858967	3	4	149	1	0	0	0	0	1	0	0	0	10105	884	31	1	886	1	MYO19	17	34858967	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	781676	34858967	46336243	197	38048											
ERBB2	2064	genome.wustl.edu	37	chr17	37866342	37866342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tgccctttgcccaacagtgaCgcgcactgtctgtgccggtg	5	10	12	14	3	1	1	0	1	1	0	1	1	1	1	3	1	4	1	3	1	1	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:37866342C>T	ENST00000269571.5	+	6	806	c.647C>T	c.(646-648)aCg>aTg	p.T216M	ERBB2_ENST00000540147.1_Missense_Mutation_p.T186M|ERBB2_ENST00000406381.2_Missense_Mutation_p.T186M|ERBB2_ENST00000540042.1_Missense_Mutation_p.T186M|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000541774.1_Missense_Mutation_p.T201M|ERBB2_ENST00000584601.1_Missense_Mutation_p.T186M|ERBB2_ENST00000578199.1_Missense_Mutation_p.T186M|ERBB2_ENST00000584450.1_Missense_Mutation_p.T216M			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	216					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)	CCAACAGTGACGCGCACTGTC	0.662		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													59	60	60					17																	37866342		2203	4299	6502	SO:0001583	missense	0			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.647C>T	17.37:g.37866342C>T	ENSP00000269571:p.Thr216Met		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T216M	ENST00000269571.5	37	c.647	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926278	0.34002	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.62	5.62	0.85841	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	D	0.83124	0.5186	M	0.88640	2.97	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	0.85972	0.1477	9	0.87932	D	0	.	18.4263	0.90610	0.0:1.0:0.0:0.0	.	186;201;216;216	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	M	186;201;216;186;186	ENSP00000385185:T186M;ENSP00000446466:T201M;ENSP00000269571:T216M;ENSP00000443562:T186M;ENSP00000446382:T186M	ENSP00000269571:T216M	T	+	2	0	ERBB2	35119868	1.000000	0.71417	0.958000	0.39756	0.227000	0.25037	7.509000	0.81698	2.648000	0.89879	0.467000	0.42956	ACG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	ENSG00000141736		0.662	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2		0	31	0	C			37866342	1			no_errors	ENST00000269571	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	T	T	37866342	C	T	37866342	3	4	149	1	0	0	0	0	1	0	0	0	5222	536	19	1	669	1	ERBB2	17	37866342	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	3007375	37866342	43328868	198	38049											
WIPF2	147179	genome.wustl.edu	37	chr17	38430132	38430132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcatgggtcagaaccccCgagccgaggaaagcccccac	12	3	11	15	2	1	1	1	0	0	1	1	4	1	2	5	2	4	1	5	2	3	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:38430132C>T	ENST00000323571.4	+	6	1301	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L	WIPF2_ENST00000583130.1_Missense_Mutation_p.P354L|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P354L|WIPF2_ENST00000536600.1_Missense_Mutation_p.P96L|WIPF2_ENST00000394103.3_Missense_Mutation_p.P96L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	354					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						TCAGAACCCCCGAGCCGAGGA	0.632										HNSCC(43;0.11)																																							0													70	64	66					17																	38430132		2203	4300	6503	SO:0001583	missense	0			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.1061C>T	17.37:g.38430132C>T	ENSP00000320924:p.Pro354Leu		A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	smart_WH2_dom,pfscan_WH2_dom	p.P354L	ENST00000323571.4	37	c.1061	CCDS11364.1	17	.	.	.	.	.	.	.	.	.	.	C	9.628	1.135759	0.21123	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.44482	1.47;0.92;0.92	5.31	-3.64	0.04515	.	0.697468	0.13870	N	0.357078	T	0.27866	0.0686	L	0.48642	1.525	0.37626	D	0.921488	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08391	-1.0724	10	0.25106	T	0.35	3.198	6.6198	0.22796	0.3552:0.465:0.0:0.1798	.	96;354	A8MWR2;Q8TF74	.;WIPF2_HUMAN	L	354;96;96	ENSP00000320924:P354L;ENSP00000377663:P96L;ENSP00000439175:P96L	ENSP00000320924:P354L	P	+	2	0	WIPF2	35683658	0.000000	0.05858	0.565000	0.28409	0.937000	0.57800	-0.412000	0.07132	-0.661000	0.05345	-1.131000	0.01979	CCG	WIPF2	-	NULL	ENSG00000171475		0.632	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WIPF2	HGNC	protein_coding	OTTHUMT00000257157.2		0	80	0	C	NM_133264		38430132	1			no_errors	ENST00000323571	ensembl	human	known	74_37	missense	5.00	74	4	SNP	0.492	T	T	38430132	C	T	38430132	3	4	149	1	0	0	0	0	1	0	0	0	17417	652	23	1	1079	1	WIPF2	17	38430132	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	563790	38430132	42765078	199	38050											
KRT12	3859	genome.wustl.edu	37	chr17	39018846	39018846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcagttgactgtgcttgtGatttggagtctgtcacaaat	10	15	10	6	0	3	2	2	2	1	0	3	3	3	3	0	1	1	2	0	1	2	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:39018846G>A	ENST00000251643.4	-	7	1381	c.1358C>T	c.(1357-1359)tCa>tTa	p.S453L	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	453	Tail.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CTGTGCTTGTGATTTGGAGTC	0.373																																																	0													154	145	148					17																	39018846		2203	4300	6503	SO:0001583	missense	0				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1358C>T	17.37:g.39018846G>A	ENSP00000251643:p.Ser453Leu		B2R9E0	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.S453L	ENST00000251643.4	37	c.1358	CCDS11378.1	17	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755411	0.49362	.	.	ENSG00000187242	ENST00000251643	D	0.82984	-1.67	4.71	4.71	0.59529	.	0.132317	0.35235	N	0.003350	T	0.72495	0.3467	L	0.38175	1.15	0.32769	N	0.504071	P	0.43477	0.808	B	0.33960	0.173	T	0.78239	-0.2281	10	0.27082	T	0.32	.	15.328	0.74182	0.0:0.0:1.0:0.0	.	453	Q99456	K1C12_HUMAN	L	453	ENSP00000251643:S453L	ENSP00000251643:S453L	S	-	2	0	KRT12	36272372	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	3.693000	0.54735	2.620000	0.88729	0.555000	0.69702	TCA	KRT12	-	NULL	ENSG00000187242		0.373	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT12	HGNC	protein_coding	OTTHUMT00000257214.2	-	0	46	0	G	NM_000223		39018846	-1	tier1	-	no_errors	ENST00000251643	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.986	A	A	39018846	G	A	39018846	3	1	149	1	0	0	0	0	1	0	0	0	8476	1294	45	3	134	3	KRT12	17	39018846	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	588714	39018846	42176364	200	38051											
LRRC37A	9884	genome.wustl.edu	37	chr17	44408220	44408220	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gcatcaggagggaacagggtGcccaggcatctgtggagaac	11	5	16	9	0	2	1	1	0	1	1	2	4	2	3	1	5	3	2	1	5	2	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:44408220G>A	ENST00000320254.5	+	9	3580	c.3577G>A	c.(3577-3579)Gcc>Acc	p.A1193T	ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575960.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.A1193T|LRRC37A_ENST00000496930.1_Missense_Mutation_p.A231T|ARL17B_ENST00000570618.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1193						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)		GGAACAGGGTGCCCAGGCATC	0.572																																																	0													31	25	28					17																	44408220		1680	1818	3498	SO:0001583	missense	0			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.3577G>A	17.37:g.44408220G>A	ENSP00000326324:p.Ala1193Thr		Q68DY2|Q8IWC7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A1193T	ENST00000320254.5	37	c.3577	CCDS11504.2	17	.	.	.	.	.	.	.	.	.	.	g	9.891	1.204292	0.22205	.	.	ENSG00000176681	ENST00000496930;ENST00000393466;ENST00000393465;ENST00000320254	T;T;T	0.60171	1.38;0.21;0.22	2.15	1.17	0.20885	.	.	.	.	.	T	0.67050	0.2852	M	0.68593	2.085	0.09310	N	1	P;P;D	0.63880	0.89;0.575;0.993	P;B;D	0.68192	0.495;0.169;0.956	T	0.52668	-0.8545	9	0.49607	T	0.09	.	4.7176	0.12903	0.1869:0.0:0.8131:0.0	.	231;313;1193	E9PP10;Q5YKG5;A6NMS7	.;.;L37A1_HUMAN	T	231;1193;1193;1193	ENSP00000437021:A231T;ENSP00000377108:A1193T;ENSP00000326324:A1193T	ENSP00000326324:A1193T	A	+	1	0	LRRC37A	41763981	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.550000	0.06034	0.469000	0.27268	-0.465000	0.05216	GCC	LRRC37A	-	NULL	ENSG00000176681		0.572	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC37A	HGNC	protein_coding	OTTHUMT00000313519.3	-	0	38	0	G	NM_014834		44408220	1	tier1	-	no_errors	ENST00000320254	ensembl	human	known	74_37	missense	83.33	8	40	SNP	0.001	A	A	44408220	G	A	44408220	3	1	149	1	0	0	0	0	1	0	0	0	9026	1319	46	3	3611	3	LRRC37A	17	44408220	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	5389374	44408220	36786990	201	38052											
LRRC37A	9884	genome.wustl.edu	37	chr17	44408942	44408942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgctgggactgcattcaaCttagggccaactgttaaaca	11	10	9	11	1	1	0	1	0	0	0	2	1	2	1	2	2	4	3	2	2	5	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:44408942C>A	ENST00000320254.5	+	9	4302	c.4299C>A	c.(4297-4299)aaC>aaA	p.N1433K	ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575960.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.N1433K|LRRC37A_ENST00000496930.1_Missense_Mutation_p.N471K|ARL17B_ENST00000570618.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1433						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)		CTGCATTCAACTTAGGGCCAA	0.448																																																	0													5	3	4					17																	44408942		1231	1858	3089	SO:0001583	missense	0			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.4299C>A	17.37:g.44408942C>A	ENSP00000326324:p.Asn1433Lys		Q68DY2|Q8IWC7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N1433K	ENST00000320254.5	37	c.4299	CCDS11504.2	17	.	.	.	.	.	.	.	.	.	.	c	8.527	0.870044	0.17322	.	.	ENSG00000176681	ENST00000496930;ENST00000393466;ENST00000393465;ENST00000320254	T;T;T	0.62232	1.32;0.04;0.05	2.31	0.145	0.14829	.	.	.	.	.	T	0.53142	0.1778	L	0.51422	1.61	0.09310	N	1	P;B;P	0.48503	0.911;0.414;0.455	P;B;B	0.45232	0.474;0.03;0.111	T	0.47923	-0.9079	9	0.66056	D	0.02	.	2.7465	0.05268	0.2773:0.5563:0.0:0.1664	.	471;553;1433	E9PP10;Q5YKG5;A6NMS7	.;.;L37A1_HUMAN	K	471;1433;1433;1433	ENSP00000437021:N471K;ENSP00000377108:N1433K;ENSP00000326324:N1433K	ENSP00000326324:N1433K	N	+	3	2	LRRC37A	41764703	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.924000	0.03996	0.069000	0.16605	-0.751000	0.03497	AAC	LRRC37A	-	NULL	ENSG00000176681		0.448	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC37A	HGNC	protein_coding	OTTHUMT00000313519.3	-	0	22	0	C	NM_014834		44408942	1	tier1	-	no_errors	ENST00000320254	ensembl	human	known	74_37	missense	72.00	7	18	SNP	0.000	A	A	44408942	C	A	44408942	3	1	149	1	0	0	0	0	1	0	0	0	9026	564	20	3	4333	3	LRRC37A	17	44408942	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	722	44408942	36786268	202	38053											
IGF2BP1	10642	genome.wustl.edu	37	chr17	47075262	47075262	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacgagcactgggcgatgaAggccatcgaaactttctccg	10	7	13	11	4	1	1	0	1	1	0	3	5	1	2	2	3	2	1	2	3	2	1	rs200362453		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:47075262A>T	ENST00000290341.3	+	1	489	c.155A>T	c.(154-156)aAg>aTg	p.K52M	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.K52M|RP11-501C14.5_ENST00000505903.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	52	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGGCGATGAAGGCCATCGAA	0.587																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													91	93	92					17																	47075262		2203	4300	6503	SO:0001583	missense	0			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.155A>T	17.37:g.47075262A>T	ENSP00000290341:p.Lys52Met		C9JT33	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.K52M	ENST00000290341.3	37	c.155	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	A	29.4	4.999600	0.93227	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.09350	2.99;2.99	4.87	3.78	0.43462	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	M	0.83603	2.65	0.30549	N	0.765681	D;D	0.89917	1.0;0.998	D;D	0.71870	0.975;0.964	T	0.24693	-1.0153	10	0.87932	D	0	-28.3794	9.8911	0.41290	0.9176:0.0:0.0824:0.0	.	52;52	C9JT33;Q9NZI8	.;IF2B1_HUMAN	M	52	ENSP00000290341:K52M;ENSP00000389135:K52M	ENSP00000290341:K52M	K	+	2	0	IGF2BP1	44430261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	1.934000	0.56057	0.528000	0.53228	AAG	IGF2BP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000159217		0.587	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1		0	35	0	A	NM_006546		47075262	1			no_errors	ENST00000290341	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T	T	47075262	A	T	47075262	3	4	149	1	0	0	0	0	1	0	0	0	7600	72	3	5	157	5	IGF2BP1	17	47075262	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	2666320	47075262	34119948	203	38054											
ACSF2	80221	genome.wustl.edu	37	chr17	48541618	48541618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcacctccagagttgatccGagccatcatcaacaagataa	14	8	7	12	1	2	3	2	1	0	2	4	4	4	3	4	0	3	2	4	0	3	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:48541618G>A	ENST00000300441.4	+	10	1282	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	ACSF2_ENST00000541920.1_Missense_Mutation_p.R233Q|ACSF2_ENST00000427954.2_Missense_Mutation_p.R418Q|ACSF2_ENST00000502667.1_Missense_Mutation_p.R380Q|ACSF2_ENST00000504392.1_Missense_Mutation_p.R350Q	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	393					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)			GAGTTGATCCGAGCCATCATC	0.577																																																	0													136	125	129					17																	48541618		2203	4300	6503	SO:0001583	missense	0			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.1178G>A	17.37:g.48541618G>A	ENSP00000300441:p.Arg393Gln		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R393Q	ENST00000300441.4	37	c.1178	CCDS11567.1	17	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016600	0.54468	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.34	2.35	0.29111	AMP-dependent synthetase/ligase (1);	0.138953	0.42964	D	0.000625	T	0.34513	0.0900	L	0.50333	1.59	0.39871	D	0.973503	P;P;P;P	0.48407	0.833;0.91;0.833;0.833	B;B;B;B	0.43155	0.41;0.362;0.41;0.41	T	0.17379	-1.0371	10	0.44086	T	0.13	-2.3307	6.9135	0.24347	0.3778:0.0:0.6222:0.0	.	380;418;350;393	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	Q	393;233;350;418;380	ENSP00000300441:R393Q;ENSP00000437987:R233Q;ENSP00000425964:R350Q;ENSP00000401831:R418Q;ENSP00000421884:R380Q	ENSP00000300441:R393Q	R	+	2	0	ACSF2	45896617	0.925000	0.31364	1.000000	0.80357	0.964000	0.63967	0.612000	0.24283	1.184000	0.42957	0.561000	0.74099	CGA	ACSF2	-	pfam_AMP-dep_Synth/Lig	ENSG00000167107		0.577	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	-	0	25	0	G	NM_025149		48541618	1	tier1	-	no_errors	ENST00000300441	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.996	A	A	48541618	G	A	48541618	3	1	149	1	0	0	0	0	1	0	0	0	175	1058	37	1	1216	1	ACSF2	17	48541618	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	1466356	48541618	32653592	204	38055											
USP32	84669	genome.wustl.edu	37	chr17	58372092	58372092	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactttaccatccaccacGtggagcattctttccatttc	8	13	7	13	1	1	0	0	0	1	0	4	2	3	2	4	2	2	1	4	2	1	5	rs375435948		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:58372092G>A	ENST00000300896.4	-	4	557	c.363C>T	c.(361-363)caC>caT	p.H121H	USP32_ENST00000393003.3_Silent_p.H121H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	121	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CATCCACCACGTGGAGCATTC	0.328																																																	0								A		0,4406		0,0,2203	88	81	84		363	3.4	1	17		84	1,8597	818.5+/-406.9	0,1,4298	no	coding-synonymous	USP32	NM_032582.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		121/1605	58372092	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			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.363C>T	17.37:g.58372092G>A			Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin	p.H121	ENST00000300896.4	37	c.363	CCDS32697.1	17																																																																																			USP32	-	NULL	ENSG00000170832		0.328	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	-	0	48	0	G	NM_032582		58372092	-1	tier1	-	no_errors	ENST00000300896	ensembl	human	known	74_37	silent	30.00	28	12	SNP	0.997	A	A	58372092	G	A	58372092	2	1	149	1	0	0	0	0	0	0	0	1	17112	1136	40	1		1	USP32	17	58372092	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	9830474	58372092	22823118	205	38056											
KCTD2	23510	genome.wustl.edu	37	chr17	73049184	73049184	+	Missense_Mutation	SNP	A	A	T	1	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	ggaaaggatacgggacaatgAgaacagaacttcacaagtaa	19	5	11	6	1	1	2	1	1	0	2	1	6	1	5	0	3	3	1	0	3	7	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:73049184A>T	ENST00000322444.6	+	3	530	c.524A>T	c.(523-525)gAg>gTg	p.E175V	KCTD2_ENST00000581589.1_5'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	175					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					CGGGACAATGAGAACAGAACT	0.473																																																	0													120	105	110					17																	73049184		2203	4300	6503	SO:0001583	missense	0			BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"potassium channel tetramerisation domain containing 2"			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.524A>T	17.37:g.73049184A>T	ENSP00000312814:p.Glu175Val			Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E175V	ENST00000322444.6	37	c.524	CCDS32728.1	17	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155627	0.78114	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.43294	0.95	5.67	5.67	0.87782	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.27053	0.805	0.80722	D	1	P	0.42827	0.791	B	0.36719	0.231	T	0.21930	-1.0231	10	0.72032	D	0.01	.	15.9135	0.79491	1.0:0.0:0.0:0.0	.	175	Q14681	KCTD2_HUMAN	V	175;157	ENSP00000312814:E175V	ENSP00000312814:E175V	E	+	2	0	KCTD2	70560779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	2.155000	0.67459	0.533000	0.62120	GAG	KCTD2	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000180901		0.473	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD2	HGNC	protein_coding	OTTHUMT00000445538.1	-	0	73	0	A			73049184	1	tier1	-	no_errors	ENST00000322444	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	73049184	A	T	73049184	3	4	149	1	0	0	0	0	1	0	0	0	8134	304	11	5	534	5	KCTD2	17	73049184	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	14677092	73049184	8146026	206	38057											
CBX8	57332	genome.wustl.edu	37	chr17	77769002	77769002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagctccttccggggcttgGggcctcgcttcttcgagctg	2	11	15	13	3	1	0	0	0	1	0	5	2	3	1	3	5	2	4	3	5	0	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:77769002G>A	ENST00000269385.4	-	5	719	c.602C>T	c.(601-603)cCc>cTc	p.P201L	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	201					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCGGGGCTTGGGGCCTCGCTT	0.667																																																	0													38	32	34					17																	77769002		2203	4300	6503	SO:0001583	missense	0			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.602C>T	17.37:g.77769002G>A	ENSP00000269385:p.Pro201Leu		Q96H39|Q9NR07	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.P201L	ENST00000269385.4	37	c.602	CCDS11765.1	17	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317128	0.81469	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	T;T	0.28895	1.59;1.59	4.91	4.91	0.64330	.	1.259070	0.05509	N	0.559886	T	0.25494	0.0620	L	0.34521	1.04	0.53688	D	0.999972	B	0.25441	0.126	B	0.16289	0.015	T	0.03910	-1.0993	10	0.13853	T	0.58	-19.3741	11.9334	0.52860	0.0804:0.0:0.9196:0.0	.	201	Q9HC52	CBX8_HUMAN	L	201;176;191	ENSP00000269385:P201L;ENSP00000405058:P191L	ENSP00000269385:P201L	P	-	2	0	CBX8	75383597	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.524000	0.53495	2.438000	0.82558	0.462000	0.41574	CCC	CBX8	-	NULL	ENSG00000141570		0.667	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1	-	0	50	0	G	NM_020649		77769002	-1	tier1	-	no_errors	ENST00000269385	ensembl	human	known	74_37	missense	29.17	34	14	SNP	1.000	A	A	77769002	G	A	77769002	3	1	149	1	0	0	0	0	1	0	0	0	2731	1219	43	3	546	3	CBX8	17	77769002	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	4719818	77769002	3426208	207	38058											
AZI1	22994	genome.wustl.edu	37	chr17	79163621	79163621	+	Missense_Mutation	SNP	T	T	C	0	1	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	gctccagcagctcctccaggTggtcggcccgcttcaccgca	5	7	11	18	3	1	0	1	0	0	0	5	0	4	0	5	3	2	5	5	3	0	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:79163621T>C	ENST00000269392.4	-	26	3447	c.3200A>G	c.(3199-3201)cAc>cGc	p.H1067R	AZI1_ENST00000374782.3_Missense_Mutation_p.H1028R|AZI1_ENST00000575907.1_Missense_Mutation_p.H1031R|AZI1_ENST00000450824.2_Missense_Mutation_p.H1064R	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		1067					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)			CTCCTCCAGGTGGTCGGCCCG	0.657																																																	0													100	101	100					17																	79163621		2203	4300	6503	SO:0001583	missense	0																														ENST00000269392.4:c.3200A>G	17.37:g.79163621T>C	ENSP00000269392:p.His1067Arg		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	superfamily_t-SNARE	p.H1067R	ENST00000269392.4	37	c.3200		17	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629110	0.67015	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.16324	2.35;2.39;2.36	4.42	4.42	0.53409	.	0.062733	0.64402	D	0.000007	T	0.39384	0.1076	M	0.65498	2.005	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.997;0.934;0.934	T	0.28396	-1.0045	10	0.72032	D	0.01	-21.8874	13.4718	0.61285	0.0:0.0:0.0:1.0	.	1064;1067;1028;1064	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	R	1064;1028;1067	ENSP00000393583:H1064R;ENSP00000363914:H1028R;ENSP00000269392:H1067R	ENSP00000269392:H1067R	H	-	2	0	AZI1	76778216	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	2.911000	0.48774	1.846000	0.53633	0.496000	0.49642	CAC	AZI1	-	NULL	ENSG00000141577		0.657	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	HGNC	protein_coding	OTTHUMT00000256070.1	-	0	61	0	T			79163621	-1	tier1	-	no_errors	ENST00000269392	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	C	C	79163621	T	C	79163621	3	2	149	1	0	0	0	0	1	0	0	0	1241	1696	59	4	55	4	AZI1	17	79163621	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	1394619	79163621	2031589	208	38059											
HGS	9146	genome.wustl.edu	37	chr17	79662869	79662869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgagcagttcctgaaggcGctgcagaacgccgtcaccac	10	5	11	15	4	1	2	1	1	0	1	2	3	2	2	3	1	3	4	3	1	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr17:79662869G>A	ENST00000329138.4	+	15	1368	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	411	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)			TCCTGAAGGCGCTGCAGAACG	0.612																																																	0													84	65	72					17																	79662869		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1233G>A	17.37:g.79662869G>A			Q9NR36	Silent	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.A411	ENST00000329138.4	37	c.1233	CCDS11784.1	17																																																																																			HGS	-	pfam_HRS_helical,pirsf_Ubi-bd_Hrs_VPS27	ENSG00000185359		0.612	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	-	0	21	0	G	NM_004712		79662869	1	tier1	-	no_errors	ENST00000329138	ensembl	human	known	74_37	silent	44.12	19	15	SNP	0.178	A	A	79662869	G	A	79662869	2	1	149	1	0	0	0	0	0	0	0	1	7114	1074	38	1		1	HGS	17	79662869	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	499248	79662869	1532341	209	38060											
RIOK3	8780	genome.wustl.edu	37	chr18	21044495	21044495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctttagcaaaaccggttcCcactcctaaaaagggcttta	12	10	7	12	1	0	0	0	0	0	0	2	0	2	0	4	2	2	3	4	2	7	6			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr18:21044495C>T	ENST00000339486.3	+	5	1063	c.446C>T	c.(445-447)cCc>cTc	p.P149L	RIOK3_ENST00000577501.1_Missense_Mutation_p.P149L|RIOK3_ENST00000581585.1_Missense_Mutation_p.P133L	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	149					chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAACCGGTTCCCACTCCTAAA	0.363																																																	0													73	71	72					18																	21044495		2203	4300	6503	SO:0001583	missense	0			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"sudD (suppressor of bimD6, Aspergillus nidulans) homolog", "RIO kinase 3 (yeast)"	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.446C>T	18.37:g.21044495C>T	ENSP00000341874:p.Pro149Leu		Q8IXN9	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3	p.P149L	ENST00000339486.3	37	c.446	CCDS11877.1	18	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857175	0.51376	.	.	ENSG00000101782	ENST00000339486	T	0.06449	3.3	6.07	5.2	0.72013	.	0.308479	0.40302	N	0.001123	T	0.05502	0.0145	N	0.24115	0.695	0.58432	D	0.999997	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.10450	0.002;0.005;0.002	T	0.34229	-0.9837	10	0.45353	T	0.12	-0.2289	10.9737	0.47454	0.1317:0.8003:0.0:0.068	.	133;149;149	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	L	149	ENSP00000341874:P149L	ENSP00000341874:P149L	P	+	2	0	RIOK3	19298493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.109000	0.64615	1.546000	0.49388	0.655000	0.94253	CCC	RIOK3	-	pirsf_Ser/Thr_kinase_Rio3	ENSG00000101782		0.363	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK3	HGNC	protein_coding	OTTHUMT00000254756.1	-	0	16	0	C	NM_003831		21044495	1	tier1	-	no_errors	ENST00000339486	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	T	T	21044495	C	T	21044495	3	4	149	1	0	0	0	0	1	0	0	0	13424	623	22	3	464	3	RIOK3	18	21044495	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09		21044495	57032753	210	38061											
DSC3	1825	genome.wustl.edu	37	chr18	28586985	28586985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaacagctaaaatgtcGgtataccccatttttggttt	11	14	8	8	1	1	0	1	0	0	0	2	1	1	1	2	3	3	3	2	3	5	6	rs139705637		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr18:28586985G>A	ENST00000360428.4	-	12	1856	c.1776C>T	c.(1774-1776)acC>acT	p.T592T	DSC3_ENST00000434452.1_Silent_p.T592T	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	592	Cadherin 5. {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)			CTAAAATGTCGGTATACCCCA	0.393																																																	0								G	,	0,4406		0,0,2203	137	126	130		1776,1776	-10.2	0	18	dbSNP_134	130	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	DSC3	NM_001941.3,NM_024423.2	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	592/897,592/840	28586985	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1776C>T	18.37:g.28586985G>A			A6NN35|Q14200|Q9HAZ9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.T592	ENST00000360428.4	37	c.1776	CCDS32810.1	18																																																																																			DSC3	-	superfamily_Cadherin-like	ENSG00000134762		0.393	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	HGNC	protein_coding	OTTHUMT00000447384.1	-	0	50	0	G	NM_001941, NM_024423		28586985	-1	tier1	rs139705637	no_errors	ENST00000360428	ensembl	human	known	74_37	silent	47.62	22	20	SNP	0.000	A	A	28586985	G	A	28586985	2	1	149	1	0	0	0	0	0	0	0	1	4781	1103	39	1		1	DSC3	18	28586985	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	7542490	28586985	49490263	211	38062											
WDR7	23335	genome.wustl.edu	37	chr18	54362387	54362387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtacctgccacacagacgGccatagtacagctgttgcaa	11	9	9	12	1	0	1	0	0	0	1	0	1	0	1	3	1	5	5	3	1	4	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr18:54362387G>T	ENST00000254442.3	+	11	1526	c.1315G>T	c.(1315-1317)Gcc>Tcc	p.A439S	WDR7_ENST00000357574.3_Missense_Mutation_p.A439S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	439					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)		CACACAGACGGCCATAGTACA	0.453																																																	0													111	103	106					18																	54362387		2203	4300	6503	SO:0001583	missense	0			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.1315G>T	18.37:g.54362387G>T	ENSP00000254442:p.Ala439Ser		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A439S	ENST00000254442.3	37	c.1315	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022612	0.93462	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	D;D	0.93076	-3.16;-3.16	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	M	0.71036	2.16	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.75020	0.94;0.985	D	0.93517	0.6858	10	0.13470	T	0.59	.	19.0834	0.93192	0.0:0.0:1.0:0.0	.	439;439	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	S	439	ENSP00000254442:A439S;ENSP00000350187:A439S	ENSP00000254442:A439S	A	+	1	0	WDR7	52513385	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	9.473000	0.97714	2.680000	0.91292	0.585000	0.79938	GCC	WDR7	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000091157		0.453	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1		0	33	0	G			54362387	1			no_errors	ENST00000254442	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	54362387	G	T	54362387	3	4	149	1	0	0	0	0	1	0	0	0	17369	1203	42	3	1353	3	WDR7	18	54362387	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	25775402	54362387	23714861	212	38063											
CDH20	28316	genome.wustl.edu	37	chr18	59174693	59174693	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacttggatgaaggcatcaAtgcagagatgaaatatacta	16	9	11	5	0	1	3	1	2	0	1	1	6	1	5	0	3	2	2	0	3	6	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr18:59174693A>G	ENST00000262717.4	+	6	1315	c.917A>G	c.(916-918)aAt>aGt	p.N306S	CDH20_ENST00000536675.2_Missense_Mutation_p.N306S|CDH20_ENST00000538374.1_Missense_Mutation_p.N306S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	306	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAAGGCATCAATGCAGAGATG	0.428																																																	0													183	158	167					18																	59174693		2203	4300	6503	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.917A>G	18.37:g.59174693A>G	ENSP00000262717:p.Asn306Ser		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N306S	ENST00000262717.4	37	c.917	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361632	0.82353	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.60040	0.22;0.22;0.22	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	M	0.89840	3.065	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.84786	0.0776	10	0.72032	D	0.01	.	16.0863	0.81056	1.0:0.0:0.0:0.0	.	306	Q9HBT6	CAD20_HUMAN	S	306	ENSP00000444767:N306S;ENSP00000442226:N306S;ENSP00000262717:N306S	ENSP00000262717:N306S	N	+	2	0	CDH20	57325673	1.000000	0.71417	0.995000	0.50966	0.889000	0.51656	9.339000	0.96797	2.197000	0.70478	0.454000	0.30748	AAT	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000101542		0.428	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	-	0	44	0	A	NM_031891		59174693	1	tier1	-	no_errors	ENST00000262717	ensembl	human	known	74_37	missense	36.36	28	16	SNP	1.000	G	G	59174693	A	G	59174693	3	3	149	1	0	0	0	0	1	0	0	0	3113	101	4	4	935	4	CDH20	18	59174693	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	4812306	59174693	18902555	213	38064											
RTTN	25914	genome.wustl.edu	37	chr18	67760024	67760025	+	Frame_Shift_Ins	INS	-	-	A																															atttcctccacgctccacatINSaaaaagaagtaatgacctga																										TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr18:67760024_67760025insA	ENST00000255674.6	-	29	4205_4206	c.3919_3920insT	c.(3919-3921)tatfs	p.Y1307fs	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Frame_Shift_Ins_p.Y1307fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1307					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)				ACGCTCCACATAAAAAGAAGTA	0.361																																																	0																																										SO:0001589	frameshift_variant	0			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.3920dupT	18.37:g.67760029_67760029dupA	ENSP00000255674:p.Tyr1307fs		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.Y1307fs	ENST00000255674.6	37	c.3920_3919	CCDS42443.1	18																																																																																			RTTN	-	NULL	ENSG00000176225		0.361	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1		0	28	0	-	NM_173630		67760025	-1	tier1		no_errors	ENST00000255674	ensembl	human	known	74_37	frame_shift_ins	41.46	24	17	INS	1.000:1.000	A	A	67760025	-	A	67760024	7	5	149	1	0	1	1	0	0	0	0	0	13782	1406	49	0	2844	0	RTTN	18	67760024	Frame_Shift_Ins	INS	-	TCGA-R6-A8W8-01B-11D-A37C-09	8585331	67760024	10317224	214	38065											
DOT1L	84444	genome.wustl.edu	37	chr19	2191155	2191155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcccccgaggtgtacGgggagacctccttcgacctg	5	9	11	16	3	1	1	0	0	1	1	4	4	2	1	6	3	1	1	6	3	1	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:2191155G>T	ENST00000398665.3	+	5	445	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	137	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.|S-adenosyl-L-methionine binding.				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)	p.G137R(1)		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)		CGAGGTGTACGGGGAGACCTC	0.602																																																	1	Substitution - Missense(1)	large_intestine(1)											101	114	109					19																	2191155		2096	4222	6318	SO:0001583	missense	0			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.409G>T	19.37:g.2191155G>T	ENSP00000381657:p.Gly137Trp		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.G137W	ENST00000398665.3	37	c.409	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685049	0.88639	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	T;T	0.30714	1.52;1.52	4.75	4.75	0.60458	.	0.053373	0.85682	D	0.000000	T	0.67258	0.2874	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78838	-0.2046	10	0.87932	D	0	-27.5326	16.8009	0.85614	0.0:0.0:1.0:0.0	.	137	Q8TEK3-2	.	W	137;137;113	ENSP00000381657:G137W;ENSP00000404284:G113W	ENSP00000221482:G137W	G	+	1	0	DOT1L	2142155	1.000000	0.71417	0.987000	0.45799	0.930000	0.56654	9.169000	0.94788	2.193000	0.70182	0.555000	0.69702	GGG	DOT1L	-	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.602	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1		0	41	0	G	NM_032482		2191155	1			no_errors	ENST00000398665	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T	T	2191155	G	T	2191155	3	4	149	1	0	0	0	0	1	0	0	0	4723	1116	39	2	427	2	DOT1L	19	2191155	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09		2191155	56937828	215	38066											
C3	718	genome.wustl.edu	37	chr19	6702485	6702485	+	Frame_Shift_Del	DEL	T	T	-																															gggtaccccggccttacccaTttttcggtggctctttcaag																										TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:6702485delT	ENST00000245907.6	-	18	2443	c.2351delA	c.(2350-2352)aatfs	p.N784fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	784					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)	GCCTTACCCATTTTTCGGTGG	0.522																																																	0													98	93	95					19																	6702485		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2351delA	19.37:g.6702485delT	ENSP00000245907:p.Asn784fs		A7E236	Frame_Shift_Del	DEL	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.N784fs	ENST00000245907.6	37	c.2351	CCDS32883.1	19																																																																																			C3	-	pfam_Macroglobln_a2	ENSG00000125730		0.522	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2		0	29	0	T	NM_000064		6702485	-1	tier1		no_errors	ENST00000245907	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.063	-	-	6702485	T	-	6702485	7	5	149	1	0	1	0	1	0	0	0	0	2211	1493	52	0	2736	0	C3	19	6702485	Frame_Shift_Del	DEL	T	TCGA-R6-A8W8-01B-11D-A37C-09	4511330	6702485	52426498	216	38067											
GMIP	51291	genome.wustl.edu	37	chr19	19745736	19745736	+	Silent	SNP	G	G	A	0	0	1	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	gacccgctgacccggtaaatGccctgcagggtgagggtgaa	9	6	15	11	2	0	3	0	3	0	0	0	4	0	3	3	3	2	3	3	3	3	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:19745736G>A	ENST00000203556.4	-	17	1889	c.1752C>T	c.(1750-1752)ggC>ggT	p.G584G	GMIP_ENST00000587238.1_Silent_p.G558G|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Silent_p.G555G	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	584	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCGGTAAATGCCCTGCAGGG	0.612																																																	0													54	59	57					19																	19745736		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1752C>T	19.37:g.19745736G>A			A0AVN9|B7ZLZ0	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.G584	ENST00000203556.4	37	c.1752	CCDS12408.1	19																																																																																			GMIP	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000089639		0.612	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	-	0	27	0	G	NM_016573		19745736	-1	tier1	-	no_errors	ENST00000203556	ensembl	human	known	74_37	silent	31.11	31	14	SNP	1.000	A	A	19745736	G	A	19745736	2	1	149	1	0	0	0	0	0	0	0	1	6517	1306	46	3		3	GMIP	19	19745736	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	13043251	19745736	39383247	217	38068											
ZNF429	353088	genome.wustl.edu	37	chr19	21719848	21719848	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcaacccttactagccaTaagagaatacatactggtga	14	10	6	11	0	1	2	1	1	0	1	2	3	2	2	3	1	5	0	3	1	7	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:21719848T>C	ENST00000358491.4	+	4	1201	c.993T>C	c.(991-993)caT>caC	p.H331H	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	331					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						TTACTAGCCATAAGAGAATAC	0.368																																																	0													33	37	36					19																	21719848		2143	4274	6417	SO:0001819	synonymous_variant	0			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.993T>C	19.37:g.21719848T>C			A6NLV7|Q9BZE6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H331	ENST00000358491.4	37	c.993	CCDS42537.1	19																																																																																			ZNF429	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197013		0.368	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	-	0	28	0	T	NM_001001415		21719848	1	tier1	-	no_errors	ENST00000358491	ensembl	human	novel	74_37	silent	28.36	48	19	SNP	0.995	C	C	21719848	T	C	21719848	2	2	149	1	0	0	0	0	0	0	0	1	17950	1403	49	4		4	ZNF429	19	21719848	Silent	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	1974112	21719848	37409135	218	38069											
RYR1	6261	genome.wustl.edu	37	chr19	39052025	39052025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcgagatcatgggcgcGtcacgccgcatcgagcgcat	8	6	13	14	8	2	1	2	0	0	1	4	3	2	1	1	1	1	3	1	1	0	0			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:39052025G>A	ENST00000359596.3	+	90	12555	c.12555G>A	c.(12553-12555)gcG>gcA	p.A4185A	RYR1_ENST00000355481.4_Silent_p.A4180A|RYR1_ENST00000360985.3_Silent_p.A4180A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4185					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)	TCATGGGCGCGTCACGCCGCA	0.647																																																	0													85	64	71					19																	39052025		2203	4300	6503	SO:0001819	synonymous_variant	0			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.12555G>A	19.37:g.39052025G>A			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.A4185	ENST00000359596.3	37	c.12555	CCDS33011.1	19																																																																																			RYR1	-	NULL	ENSG00000196218		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0	37	0	G			39052025	1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	silent	23.53	26	8	SNP	0.996	A	A	39052025	G	A	39052025	2	1	149	1	0	0	0	0	0	0	0	1	13813	1132	40	1		1	RYR1	19	39052025	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	17332177	39052025	20076958	219	38070											
SPHK2	56848	genome.wustl.edu	37	chr19	49129197	49129197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccacgggcctaggagcaCcctggtcagggctaaggcca	8	4	16	13	1	1	0	1	0	0	0	1	1	1	1	4	6	1	2	4	6	2	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:49129197C>T	ENST00000245222.4	+	3	455	c.89C>T	c.(88-90)aCc>aTc	p.T30I	AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000599029.1_5'UTR|SPHK2_ENST00000599748.1_5'UTR|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000443164.1_Missense_Mutation_p.T92I|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000601712.1_Intron|AC022154.7_ENST00000594850.1_RNA|SPHK2_ENST00000340932.3_5'UTR|SPHK2_ENST00000598088.1_Missense_Mutation_p.T30I|AC022154.7_ENST00000598735.1_RNA	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	30	Required for binding to sulfatide and phosphoinositides and for membrane localization.				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)		CCTAGGAGCACCCTGGTCAGG	0.692																																																	0													21	22	22					19																	49129197		2200	4299	6499	SO:0001583	missense	0			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.89C>T	19.37:g.49129197C>T	ENSP00000245222:p.Thr30Ile		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.T92I	ENST00000245222.4	37	c.275	CCDS12727.1	19	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537090	0.27475	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000443164	T;T	0.26067	2.24;1.76	3.71	3.71	0.42584	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.40012	D	0.975305	B;B	0.23650	0.089;0.037	B;B	0.20955	0.032;0.014	T	0.09335	-1.0679	9	0.62326	D	0.03	-11.4931	11.1886	0.48671	0.0:1.0:0.0:0.0	.	92;30	A0T4C8;Q9NRA0	.;SPHK2_HUMAN	I	30;30;92	ENSP00000245222:T30I;ENSP00000413369:T92I	ENSP00000245222:T30I	T	+	2	0	SPHK2	53821009	0.005000	0.15991	0.075000	0.20258	0.978000	0.69477	0.328000	0.19681	2.083000	0.62718	0.462000	0.41574	ACC	SPHK2	-	NULL	ENSG00000063176		0.692	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	-	0	64	0	C			49129197	1	tier1	-	no_errors	ENST00000443164	ensembl	human	known	74_37	missense	28.99	48	20	SNP	0.224	T	T	49129197	C	T	49129197	3	4	149	1	0	0	0	0	1	0	0	0	15094	507	18	3	95	3	SPHK2	19	49129197	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	10077172	49129197	9999786	220	38071											
PPFIA3	8541	genome.wustl.edu	37	chr19	49633254	49633254	+	Missense_Mutation	SNP	T	T	C	0	1	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	cctttcacacttccagactcTgaaccttcgagaacagctgt	10	11	6	14	1	2	3	1	1	1	2	4	4	3	3	3	0	3	1	3	0	2	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:49633254T>C	ENST00000334186.4	+	6	936	c.587T>C	c.(586-588)cTg>cCg	p.L196P	PPFIA3_ENST00000602351.1_Missense_Mutation_p.L196P	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	196					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)		TTCCAGACTCTGAACCTTCGA	0.612																																																	0													69	65	66					19																	49633254		2203	4300	6503	SO:0001583	missense	0			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.587T>C	19.37:g.49633254T>C	ENSP00000335614:p.Leu196Pro		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L196P	ENST00000334186.4	37	c.587	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	T	11.74	1.729523	0.30684	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.35789	1.29	4.4	4.4	0.53042	.	0.209236	0.23302	N	0.049666	T	0.39436	0.1078	L	0.47716	1.5	0.58432	D	0.999999	D;B;B	0.54397	0.966;0.42;0.027	P;P;B	0.50708	0.648;0.622;0.035	T	0.10086	-1.0645	10	0.30078	T	0.28	-2.1676	11.8923	0.52637	0.0:0.0:0.0:1.0	.	120;196;196	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	P	196;120	ENSP00000335614:L196P	ENSP00000335614:L196P	L	+	2	0	PPFIA3	54325066	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	2.841000	0.48223	1.991000	0.58162	0.379000	0.24179	CTG	PPFIA3	-	NULL	ENSG00000177380		0.612	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1		0	29	0	T	NM_003660		49633254	1			no_errors	ENST00000334186	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.999	C	C	49633254	T	C	49633254	3	2	149	1	0	0	0	0	1	0	0	0	12350	1580	55	4	605	4	PPFIA3	19	49633254	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	504057	49633254	9495729	221	38072											
CPT1C	126129	genome.wustl.edu	37	chr19	50208474	50208474	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacggtttcctgcagactTtgctgatgggaatgcgcccc	6	10	11	14	2	0	2	0	1	0	1	1	3	1	3	4	2	3	3	4	2	1	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:50208474T>C	ENST00000392518.4	+	10	1255	c.883T>C	c.(883-885)Ttg>Ctg	p.L295L	CPT1C_ENST00000323446.5_Silent_p.L295L|CPT1C_ENST00000405931.2_Silent_p.L284L|CPT1C_ENST00000598293.1_Silent_p.L295L|CPT1C_ENST00000354199.5_Silent_p.L295L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	295					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		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;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCTGCAGACTTTGCTGATGGG	0.597																																																	0													140	129	133					19																	50208474		2203	4300	6503	SO:0001819	synonymous_variant	0			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.883T>C	19.37:g.50208474T>C			A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	pfam_Carn_acyl_trans	p.L295	ENST00000392518.4	37	c.883	CCDS12779.1	19																																																																																			CPT1C	-	pfam_Carn_acyl_trans	ENSG00000169169		0.597	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1		0	16	0	T	NM_152359		50208474	1			no_errors	ENST00000323446	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.062	C	C	50208474	T	C	50208474	2	2	149	1	0	0	0	0	0	0	0	1	3840	1838	64	4		4	CPT1C	19	50208474	Silent	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09	575220	50208474	8920509	222	38073											
TSKS	60385	genome.wustl.edu	37	chr19	50248526	50248526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtctgtgcctgttcgcGctgtgcccgctcccactggc	1	10	12	18	5	1	0	0	0	1	0	3	0	2	0	4	1	2	3	4	1	0	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:50248526G>A	ENST00000246801.3	-	7	1202	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	TSKS_ENST00000358830.3_Missense_Mutation_p.R174C	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	374					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.R374G(1)		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)		GCCTGTTCGCGCTGTGCCCGC	0.701																																																	1	Substitution - Missense(1)	lung(1)											34	33	33					19																	50248526		2203	4300	6503	SO:0001583	missense	0			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.1120C>T	19.37:g.50248526G>A	ENSP00000246801:p.Arg374Cys		Q8WXJ0	Missense_Mutation	SNP	NULL	p.R374C	ENST00000246801.3	37	c.1120	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314954	0.40996	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.35048	1.33;1.33	4.89	2.66	0.31614	.	0.000000	0.47852	D	0.000205	T	0.21718	0.0523	L	0.29908	0.895	0.38673	D	0.95236	B	0.13145	0.007	B	0.10450	0.005	T	0.16482	-1.0401	10	0.72032	D	0.01	-12.5152	2.8572	0.05575	0.1004:0.1659:0.5393:0.1944	.	374	Q9UJT2	TSKS_HUMAN	C	374;174	ENSP00000246801:R374C;ENSP00000351691:R174C	ENSP00000246801:R374C	R	-	1	0	TSKS	54940338	0.804000	0.28969	0.991000	0.47740	0.885000	0.51271	1.294000	0.33365	1.286000	0.44565	0.561000	0.74099	CGC	TSKS	-	NULL	ENSG00000126467		0.701	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	-	0	74	0	G	NM_021733		50248526	-1	tier1	-	no_errors	ENST00000246801	ensembl	human	known	74_37	missense	27.14	51	19	SNP	0.913	A	A	50248526	G	A	50248526	3	1	149	1	0	0	0	0	1	0	0	0	16674	1087	38	1	678	1	TSKS	19	50248526	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	40052	50248526	8880457	223	38074											
SIGLEC7	27036	genome.wustl.edu	37	chr19	51645917	51645917	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcgggaccgattccacctCcttggggacccacagaccaa	10	6	9	16	2	0	1	0	0	0	1	3	4	2	3	6	3	0	0	6	3	1	2	rs373701051		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:51645917C>A	ENST00000317643.6	+	1	360	c.291C>A	c.(289-291)ctC>ctA	p.L97L	SIGLEC7_ENST00000600577.1_Silent_p.L97L|SIGLEC7_ENST00000305628.7_Silent_p.L97L	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	97	Ig-like V-type.				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)		GATTCCACCTCCTTGGGGACC	0.517																																																	0													113	109	110					19																	51645917		2203	4300	6503	SO:0001819	synonymous_variant	0			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.291C>A	19.37:g.51645917C>A			Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L97	ENST00000317643.6	37	c.291	CCDS12826.1	19																																																																																			SIGLEC7	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000168995		0.517	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	HGNC	protein_coding	OTTHUMT00000464226.2	-	0	62	0	C	NM_016543		51645917	1	tier1	-	no_errors	ENST00000317643	ensembl	human	known	74_37	silent	29.17	51	21	SNP	0.053	A	A	51645917	C	A	51645917	2	1	149	1	0	0	0	0	0	0	0	1	14358	842	30	3		3	SIGLEC7	19	51645917	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	1397391	51645917	7483066	224	38075											
LILRA3	11026	genome.wustl.edu	37	chr19	54802103	54802103	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gacgcagcggggaatcagctGccccctccttggtcaaaagg	9	6	13	13	2	2	0	2	0	0	0	3	2	3	1	3	4	3	2	3	4	3	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:54802103G>A	ENST00000251390.3	-	6	1176	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	LILRA3_ENST00000391745.1_Missense_Mutation_p.A379V|LILRA3_ENST00000391744.3_Missense_Mutation_p.A298V	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	362	Ig-like C2-type 4.				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)		GGAATCAGCTGCCCCCTCCTT	0.597																																																	0													105	93	97					19																	54802103		2194	4160	6354	SO:0001583	missense	0			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.1085C>T	19.37:g.54802103G>A	ENSP00000251390:p.Ala362Val		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.A362V	ENST00000251390.3	37	c.1085	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315586	0.23908	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00700	5.82;5.82;5.82	2.53	0.162	0.14981	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.574950	0.04163	N	0.323362	T	0.01421	0.0046	L	0.49455	1.56	0.09310	N	1	B;B	0.25563	0.129;0.09	B;B	0.37943	0.246;0.261	T	0.49399	-0.8944	10	0.66056	D	0.02	.	2.8472	0.05547	0.1623:0.0:0.5638:0.2739	.	362;362	E7EU74;Q8N6C8	.;LIRA3_HUMAN	V	362;298;379	ENSP00000251390:A362V;ENSP00000375624:A298V;ENSP00000375625:A379V	ENSP00000251390:A362V	A	-	2	0	LILRA3	59493915	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	0.162000	0.16501	0.130000	0.18549	0.591000	0.81541	GCA	LILRA3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	ENSG00000170866		0.597	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	-	0	101	0	G			54802103	-1	tier1	-	no_errors	ENST00000251390	ensembl	human	known	74_37	missense	17.42	109	23	SNP	0.000	A	A	54802103	G	A	54802103	3	1	149	1	0	0	0	0	1	0	0	0	8815	1319	46	3	242	3	LILRA3	19	54802103	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	3156186	54802103	4326880	225	38076											
ZNF835	90485	genome.wustl.edu	37	chr19	57175717	57175717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gatctgcgcgaaggccttggCgcactggccgcagcggtagg	6	6	17	12	5	1	0	0	0	1	0	1	2	1	0	2	5	2	3	2	5	2	2	rs575232626		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:57175717C>T	ENST00000537055.2	-	2	1081	c.850G>A	c.(850-852)Gcc>Acc	p.A284T		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCCTTGGCGCACTGGCCG	0.697													.|||	1	0.000199681	0	0	5008	,	,		15752	0		0	False		,,,				2504	0.001																0													18	19	19					19																	57175717		2201	4291	6492	SO:0001583	missense	0			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.850G>A	19.37:g.57175717C>T	ENSP00000444747:p.Ala284Thr		B7Z5Y0|G3V1S0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A284T	ENST00000537055.2	37	c.850	CCDS56105.1	19	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047814	0.93740	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07567	3.18	2.12	-0.196	0.13232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	N	0.04880	-0.145	0.22500	N	0.99904	D	0.61080	0.989	P	0.55303	0.773	T	0.33624	-0.9861	9	0.87932	D	0	.	5.0827	0.14664	0.0:0.6462:0.2144:0.1394	.	306	Q9Y2P0	ZN835_HUMAN	T	306;284	ENSP00000444747:A284T	ENSP00000341756:A306T	A	-	1	0	ZNF835	61867529	0.005000	0.15991	0.003000	0.11579	0.970000	0.65996	1.222000	0.32515	0.038000	0.15604	-0.221000	0.12465	GCC	ZNF835	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127903		0.697	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1	-	0	68	0	C	NM_001005850		57175717	-1	tier1	-	no_errors	ENST00000537055	ensembl	human	known	74_37	missense	15.05	78	14	SNP	0.997	T	T	57175717	C	T	57175717	3	4	149	1	0	0	0	0	1	0	0	0	18234	768	27	1	765	1	ZNF835	19	57175717	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	2373614	57175717	1953266	226	38077											
ZNF17	7565	genome.wustl.edu	37	chr19	57931205	57931205	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtacagccaagctttacctGcaccaaaaggagcatcttag	13	8	8	12	1	1	0	0	0	1	0	1	1	1	1	3	1	6	4	3	1	6	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:57931205G>A	ENST00000601808.1	+	3	558	c.345G>A	c.(343-345)ctG>ctA	p.L115L	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000595206.1_3'UTR|ZNF17_ENST00000307658.7_Silent_p.L117L|AC003002.6_ENST00000596400.1_Silent_p.L127L	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	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)			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)		AGCTTTACCTGCACCAAAAGG	0.512																																					Melanoma(149;1637 1853 29914 42869 44988)												0													125	125	125					19																	57931205		2203	4300	6503	SO:0001819	synonymous_variant	0			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.345G>A	19.37:g.57931205G>A			B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L115	ENST00000601808.1	37	c.345	CCDS42636.1	19																																																																																			ZNF17	-	NULL	ENSG00000186272		0.512	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1	-	0	61	0	G	NM_006959		57931205	1	tier1	-	no_errors	ENST00000601808	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.862	A	A	57931205	G	A	57931205	2	1	149	1	0	0	0	0	0	0	0	1	17791	1306	46	3		3	ZNF17	19	57931205	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	755488	57931205	1197778	227	38078											
ZNF256	10172	genome.wustl.edu	37	chr19	58452838	58452838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtacaatgaggtcaaatttCctgctaaataattttccaca	14	14	5	8	0	1	1	1	1	0	0	3	1	3	1	2	1	2	2	2	1	6	6			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr19:58452838C>T	ENST00000282308.3	-	3	1534	c.1338G>A	c.(1336-1338)agG>agA	p.R446R	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	446					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)		GGTCAAATTTCCTGCTAAATA	0.378																																					NSCLC(55;1313 1552 8040 11996)												0													73	69	70					19																	58452838		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1338G>A	19.37:g.58452838C>T			B2RA92|Q53Y85|Q9BV71	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R446	ENST00000282308.3	37	c.1338	CCDS12966.1	19																																																																																			ZNF256	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152454		0.378	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF256	HGNC	protein_coding	OTTHUMT00000466702.1	-	0	63	0	C			58452838	-1	tier1	-	no_errors	ENST00000282308	ensembl	human	known	74_37	silent	8.47	54	5	SNP	0.000	T	T	58452838	C	T	58452838	2	4	149	1	0	0	0	0	0	0	0	1	17847	854	30	3		3	ZNF256	19	58452838	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	521633	58452838	676145	228	38079											
C20orf141	128653	genome.wustl.edu	37	chr20	2796202	2796202	+	Silent	SNP	G	G	T	0	0	1	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	aggcccgcaggtcacactctGccacagcgcaaacttctcac	10	6	8	17	2	3	0	2	0	2	0	4	0	3	0	2	2	3	2	2	2	1	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:2796202G>T	ENST00000380589.4	+	2	453	c.279G>T	c.(277-279)ctG>ctT	p.L93L	TMEM239_ENST00000554164.1_Intron|C20orf141_ENST00000603872.1_Silent_p.L93L|TMEM239_ENST00000380585.1_5'Flank|TMEM239_ENST00000380593.4_Intron|TMEM239_ENST00000361033.1_5'Flank	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	93	Leu-rich.					integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						GTCACACTCTGCCACAGCGCA	0.632																																																	0													37	35	36					20																	2796202		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.279G>T	20.37:g.2796202G>T				Silent	SNP	NULL	p.L93	ENST00000380589.4	37	c.279	CCDS13034.1	20																																																																																			C20orf141	-	NULL	ENSG00000258713		0.632	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf141	HGNC	protein_coding	OTTHUMT00000077644.2		0	19	0	G	NM_080739		2796202	1			no_errors	ENST00000380589	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.004	T	T	2796202	G	T	2796202	2	4	149	1	0	0	0	0	0	0	0	1	2096	1306	46	3		3	C20orf141	20	2796202	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09		2796202	60229318	229	38080											
SEC23B	10483	genome.wustl.edu	37	chr20	18535015	18535015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gatgccacgttacatcaacaCggagcatggaggcagtcagg	12	6	13	10	2	2	0	2	0	0	0	2	3	2	2	1	4	4	3	1	4	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:18535015C>T	ENST00000336714.3	+	18	2561	c.2129C>T	c.(2128-2130)aCg>aTg	p.T710M	SEC23B_ENST00000377465.1_Missense_Mutation_p.T710M|SEC23B_ENST00000377475.3_Missense_Mutation_p.T710M|SEC23B_ENST00000262544.2_Missense_Mutation_p.T710M	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)	710					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						TACATCAACACGGAGCATGGA	0.458																																																	0													150	131	137					20																	18535015		2203	4300	6503	SO:0001583	missense	0			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.2129C>T	20.37:g.18535015C>T	ENSP00000338844:p.Thr710Met		D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.T710M	ENST00000336714.3	37	c.2129	CCDS13137.1	20	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808127	0.70797	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	4.69	4.69	0.59074	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.76271	0.3964	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.969;0.992	T	0.81263	-0.1012	10	0.87932	D	0	-16.6122	17.1327	0.86730	0.0:1.0:0.0:0.0	.	692;710	B4DJW8;Q15437	.;SC23B_HUMAN	M	710;710;710;710;189	ENSP00000338844:T710M;ENSP00000262544:T710M;ENSP00000366695:T710M;ENSP00000366685:T710M;ENSP00000409882:T189M	ENSP00000262544:T710M	T	+	2	0	SEC23B	18483015	1.000000	0.71417	0.996000	0.52242	0.558000	0.35554	7.609000	0.82925	2.588000	0.87417	0.655000	0.94253	ACG	SEC23B	-	pfam_Gelsolin_dom	ENSG00000101310		0.458	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEC23B	HGNC	protein_coding	OTTHUMT00000078184.5	-	0	40	0	C			18535015	1	tier1	-	no_errors	ENST00000262544	ensembl	human	known	74_37	missense	38.33	37	23	SNP	1.000	T	T	18535015	C	T	18535015	3	4	149	1	0	0	0	0	1	0	0	0	14037	536	19	1	2195	1	SEC23B	20	18535015	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	15738813	18535015	44490505	230	38081											
NINL	22981	genome.wustl.edu	37	chr20	25450630	25450631	+	Frame_Shift_Del	DEL	TG	TG	-																															aggggcgtggcccttacctcTgtgcatcgtgagtactttct																										TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:25450630_25450631delTG	ENST00000278886.6	-	18	3422_3423	c.3349_3350delCA	c.(3349-3351)cagfs	p.Q1117fs	NINL_ENST00000422516.1_Frame_Shift_Del_p.Q768fs	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1117					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						CCCTTACCTCTGTGCATCGTGA	0.5																																																	0																																										SO:0001589	frameshift_variant	0				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.3349_3350delCA	20.37:g.25450632_25450633delTG	ENSP00000278886:p.Gln1117fs		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Frame_Shift_Del	DEL	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.Q1117fs	ENST00000278886.6	37	c.3350_3349	CCDS33452.1	20																																																																																			NINL	-	NULL	ENSG00000101004		0.5	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3		0	31	0	TG	NM_025176		25450631	-1	tier1		no_errors	ENST00000278886	ensembl	human	known	74_37	frame_shift_del	26.92	19	7	DEL	0.990:0.933	-	-	25450631	TG	-	25450630	7	5	149	1	0	1	0	1	0	0	0	0	10459	1580	55	0	826	0	NINL	20	25450630	Frame_Shift_Del	DEL	TG	TCGA-R6-A8W8-01B-11D-A37C-09	6915615	25450630	37574890	231	38082											
AHCY	191	genome.wustl.edu	37	chr20	32873245	32873245	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggtagaagaataaacccaCcttcttgggcaggaaatgaa	16	7	11	7	0	1	3	0	1	1	2	1	5	1	4	2	3	1	2	2	3	7	4			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:32873245C>G	ENST00000217426.2	-	9	1245		c.e9+1		AHCY_ENST00000538132.1_Splice_Site|CTD-3216D2.5_ENST00000609218.1_RNA	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase						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						AATAAACCCACCTTCTTGGGC	0.532																																																	0													64	61	62					20																	32873245		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1167+1G>C	20.37:g.32873245C>G			A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Splice_Site	SNP	-	e9+1	ENST00000217426.2	37	c.1167+1	CCDS13233.1	20	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798520	0.70567	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.522	0.90956	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AHCY	32336906	1.000000	0.71417	0.995000	0.50966	0.691000	0.40173	7.732000	0.84908	2.457000	0.83068	0.650000	0.86243	.	AHCY	-	-	ENSG00000101444		0.532	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCY	HGNC	protein_coding	OTTHUMT00000078773.2		0	29	0	C	NM_000687	Intron	32873245	-1			no_errors	ENST00000217426	ensembl	human	known	74_37	splice_site	6.25	45	3	SNP	1.000	G	G	32873245	C	G	32873245	5	3	149	1	0	0	0	0	0	0	1	0	409	521	18	5	138	5	AHCY	20	32873245	Splice_Site	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	7422615	32873245	30152275	232	38083											
RIMS4	140730	genome.wustl.edu	37	chr20	43438826	43438826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgcttacctgcgtcctcGtcgtcgaaggagttcatgca	6	10	12	13	6	1	0	1	0	0	0	5	2	2	1	2	1	3	3	2	1	2	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:43438826G>A	ENST00000372851.3	-	1	153	c.87C>T	c.(85-87)gaC>gaT	p.D29D	RIMS4_ENST00000541604.2_Silent_p.D29D	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	29					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)				CTGCGTCCTCGTCGTCGAAGG	0.731																																																	0													12	11	11					20																	43438826		2191	4279	6470	SO:0001819	synonymous_variant	0				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	ENST00000372851.3:c.87C>T	20.37:g.43438826G>A			A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.D29	ENST00000372851.3	37	c.87	CCDS13338.1	20																																																																																			RIMS4	-	NULL	ENSG00000101098		0.731	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RIMS4	HGNC	protein_coding	OTTHUMT00000101027.2	-	0	13	0	G	NM_182970		43438826	-1	tier1	-	no_errors	ENST00000541604	ensembl	human	known	74_37	silent	36.36	7	4	SNP	0.807	A	A	43438826	G	A	43438826	2	1	149	1	0	0	0	0	0	0	0	1	13415	1136	40	1		1	RIMS4	20	43438826	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	10565581	43438826	19586694	233	38084											
SLC12A5	57468	genome.wustl.edu	37	chr20	44669098	44669098	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacaacatgcgtgtttaCggcacctgtgtgctcacctg	8	11	10	12	2	1	1	1	1	0	0	1	1	1	1	2	1	5	3	2	1	3	2	rs200570265		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:44669098C>T	ENST00000454036.2	+	7	817	c.768C>T	c.(766-768)taC>taT	p.Y256Y	SLC12A5_ENST00000243964.3_Silent_p.Y233Y|SLC12A5_ENST00000372315.1_Silent_p.Y233Y	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	256					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.Y233Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCGTGTTTACGGCACCTGTG	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											362	278	306					20																	44669098		2203	4300	6503	SO:0001819	synonymous_variant	0			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.768C>T	20.37:g.44669098C>T			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.Y256	ENST00000454036.2	37	c.768	CCDS46610.1	20																																																																																			SLC12A5	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.547	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0	28	0	C			44669098	1	tier1	rs200570265	no_errors	ENST00000454036	ensembl	human	known	74_37	silent	35.29	22	12	SNP	0.999	T	T	44669098	C	T	44669098	2	4	149	1	0	0	0	0	0	0	0	1	14431	547	19	1		1	SLC12A5	20	44669098	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	1230272	44669098	18356422	234	38085											
ARFGEF2	10564	genome.wustl.edu	37	chr20	47635475	47635475	+	Missense_Mutation	SNP	A	A	G	1	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	tagataaaaatccctctgagAggggacagagccagctctct	13	8	10	10	0	2	3	0	1	2	3	4	5	3	4	2	2	2	1	2	2	4	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:47635475A>G	ENST00000371917.4	+	34	4564	c.4564A>G	c.(4564-4566)Agg>Ggg	p.R1522G		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1522					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)			TCCCTCTGAGAGGGGACAGAG	0.423																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													78	76	77					20																	47635475		2203	4300	6503	SO:0001583	missense	0			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.4564A>G	20.37:g.47635475A>G	ENSP00000360985:p.Arg1522Gly		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.R1522G	ENST00000371917.4	37	c.4564	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770496	0.31320	.	.	ENSG00000124198	ENST00000371917	T	0.47528	0.84	4.92	3.81	0.43845	Armadillo-type fold (1);	0.459979	0.25708	N	0.028829	T	0.35393	0.0930	L	0.38838	1.175	0.47949	D	0.999554	B	0.06786	0.001	B	0.04013	0.001	T	0.08889	-1.0700	10	0.23891	T	0.37	.	10.7795	0.46369	0.8407:0.1593:0.0:0.0	.	1522	Q9Y6D5	BIG2_HUMAN	G	1522	ENSP00000360985:R1522G	ENSP00000360985:R1522G	R	+	1	2	ARFGEF2	47068882	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.578000	0.60929	0.804000	0.34136	0.379000	0.24179	AGG	ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.423	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1		0	24	0	A	NM_006420		47635475	1			no_errors	ENST00000371917	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	G	G	47635475	A	G	47635475	3	3	149	1	0	0	0	0	1	0	0	0	853	295	11	4	4698	4	ARFGEF2	20	47635475	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09	2966377	47635475	15390045	235	38086											
ZNFX1	57169	genome.wustl.edu	37	chr20	47882796	47882796	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaatttttagacccacataGgttttgcctagaaaataagg	15	12	7	7	0	0	2	0	0	0	2	0	2	0	2	2	2	1	1	2	2	7	8			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:47882796G>T	ENST00000396105.1	-	4	2124	c.1878C>A	c.(1876-1878)acC>acA	p.T626T	ZNFX1_ENST00000371754.4_Silent_p.T626T|ZNFX1_ENST00000371752.1_Silent_p.T626T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	626							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)			GACCCACATAGGTTTTGCCTA	0.318																																																	0													69	68	68					20																	47882796		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1878C>A	20.37:g.47882796G>T			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1	p.T626	ENST00000396105.1	37	c.1878	CCDS13417.1	20																																																																																			ZNFX1	-	superfamily_P-loop_NTPase	ENSG00000124201		0.318	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2		0	32	0	G	NM_021035		47882796	-1			no_errors	ENST00000371752	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.986	T	T	47882796	G	T	47882796	2	4	149	1	0	0	0	0	0	0	0	1	18253	987	35	3		3	ZNFX1	20	47882796	Silent	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	247321	47882796	15142724	236	38087											
NPEPL1	79716	genome.wustl.edu	37	chr20	57282250	57282250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggccttcagagccgcaatCaagcaggtgagtgggccctg	8	6	16	11	1	2	2	2	1	0	1	2	2	2	2	3	4	2	2	3	4	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:57282250C>G	ENST00000356091.6	+	7	1182	c.894C>G	c.(892-894)atC>atG	p.I298M	NPEPL1_ENST00000525817.1_Missense_Mutation_p.I250M|NPEPL1_ENST00000525967.1_Missense_Mutation_p.I270M|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	298						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)			GAGCCGCAATCAAGCAGGTGA	0.687																																																	0													11	17	15					20																	57282250		1973	4063	6036	SO:0001583	missense	0			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.894C>G	20.37:g.57282250C>G	ENSP00000348395:p.Ile298Met		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	p.I298M	ENST00000356091.6	37	c.894	CCDS46621.1	20	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505276	0.26949	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.42900	0.96;0.96;0.96	4.46	3.49	0.39957	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.283555	0.33364	N	0.004999	T	0.16896	0.0406	N	0.00621	-1.32	0.36530	D	0.870659	B;B;B;P	0.40931	0.162;0.134;0.389;0.733	B;B;B;B	0.43680	0.315;0.21;0.427;0.424	T	0.30650	-0.9971	10	0.72032	D	0.01	-23.6053	7.5779	0.27948	0.2027:0.6285:0.1688:0.0	.	298;250;270;298	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	M	270;250;298	ENSP00000434810:I270M;ENSP00000437112:I250M;ENSP00000348395:I298M	ENSP00000348395:I298M	I	+	3	3	NPEPL1	56715657	0.998000	0.40836	0.979000	0.43373	0.555000	0.35460	0.511000	0.22739	0.831000	0.34780	0.462000	0.41574	ATC	NPEPL1	-	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	ENSG00000215440		0.687	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	-	0	106	0	C	NM_024663		57282250	1	tier1	-	no_errors	ENST00000356091	ensembl	human	known	74_37	missense	29.13	73	30	SNP	1.000	G	G	57282250	C	G	57282250	3	3	149	1	0	0	0	0	1	0	0	0	10613	816	29	5	766	5	NPEPL1	20	57282250	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	9399454	57282250	5743270	237	38088											
ADRM1	11047	genome.wustl.edu	37	chr20	60878680	60878680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccaggctctcggggcgcctCcaacaagtacttggtggagt	7	8	14	12	2	1	0	0	0	1	0	3	1	2	1	3	5	2	2	3	5	3	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr20:60878680C>T	ENST00000253003.2	+	2	102	c.56C>T	c.(55-57)tCc>tTc	p.S19F	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	19	Interaction with PSMD1.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CGGGGCGCCTCCAACAAGTAC	0.622																																																	0													77	86	83					20																	60878680		2203	4299	6502	SO:0001583	missense	0			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.56C>T	20.37:g.60878680C>T	ENSP00000253003:p.Ser19Phe		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	pfam_26S_Psome_Ubiquitin-recp_Rpn13	p.S19F	ENST00000253003.2	37	c.56	CCDS13496.1	20	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353814	0.82243	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.63843	1.955	0.80722	D	1	D;P	0.58620	0.983;0.915	P;P	0.52672	0.706;0.514	T	0.76305	-0.3008	9	0.87932	D	0	-22.1321	17.0558	0.86533	0.0:1.0:0.0:0.0	.	19;19	B4DMP7;Q16186	.;ADRM1_HUMAN	F	19	.	ENSP00000253003:S19F	S	+	2	0	ADRM1	60312075	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	7.464000	0.80887	2.100000	0.63781	0.561000	0.74099	TCC	ADRM1	-	NULL	ENSG00000130706		0.622	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRM1	HGNC	protein_coding	OTTHUMT00000080007.1	-	0	34	0	C			60878680	1	tier1	-	no_errors	ENST00000253003	ensembl	human	known	74_37	missense	35.71	27	15	SNP	1.000	T	T	60878680	C	T	60878680	3	4	149	1	0	0	0	0	1	0	0	0	345	855	30	3	58	3	ADRM1	20	60878680	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	3596430	60878680	2146840	238	38089											
CCT8L2	150160	genome.wustl.edu	37	chr22	17072732	17072732	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagccaccctggcaccacTtaacactgtggccatttgcc	9	8	9	15	0	0	1	0	0	0	1	0	2	0	1	5	2	3	1	5	2	1	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr22:17072732T>G	ENST00000359963.3	-	1	968	c.709A>C	c.(709-711)Agt>Cgt	p.S237R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	237					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)				CTGGCACCACTTAACACTGTG	0.587																																																	0													83	77	79					22																	17072732		2203	4300	6503	SO:0001583	missense	0			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.709A>C	22.37:g.17072732T>G	ENSP00000353048:p.Ser237Arg		A4QPH3|Q9UJS3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1	p.S237R	ENST00000359963.3	37	c.709	CCDS13738.1	22	.	.	.	.	.	.	.	.	.	.	t	4.880	0.163569	0.09287	.	.	ENSG00000198445	ENST00000359963	T	0.78816	-1.21	1.78	-0.692	0.11301	.	2.554580	0.01993	U	0.045677	T	0.56761	0.2007	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.43245	-0.9403	10	0.33141	T	0.24	5.767	2.2193	0.03968	0.0:0.2167:0.323:0.4603	.	237	Q96SF2	TCPQM_HUMAN	R	237	ENSP00000353048:S237R	ENSP00000353048:S237R	S	-	1	0	CCT8L2	15452732	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.661000	0.05311	-0.030000	0.13804	0.312000	0.20444	AGT	CCT8L2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	ENSG00000198445		0.587	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8L2	HGNC	protein_coding	OTTHUMT00000280580.1	-	0	78	0	T			17072732	-1	tier1	-	no_errors	ENST00000359963	ensembl	human	known	74_37	missense	29.03	44	18	SNP	0.000	G	G	17072732	T	G	17072732	3	3	149	1	0	0	0	0	1	0	0	0	2968	1609	56	4	968	4	CCT8L2	22	17072732	Missense_Mutation	SNP	T	TCGA-R6-A8W8-01B-11D-A37C-09		17072732	34231834	239	38090											
GAS2L1	10633	genome.wustl.edu	37	chr22	29708357	29708357	+	IGR	SNP	G	G	A	0	0	1	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	cggggtcggatggacacacaGccagaccgtaaaccctcacg	11	4	12	14	4	1	1	1	0	0	1	2	3	1	3	3	4	2	1	3	4	2	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr22:29708357G>A	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407647.2_3'UTR|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000406549.3_Silent_p.Q412Q	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						TGGACACACAGCCAGACCGTA	0.701																																																	0													41	49	46					22																	29708357		1990	4154	6144	SO:0001628	intergenic_variant	0			Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708357G>A			Q49AU5|Q6PI03	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.Q412	ENST00000216101.6	37	c.1236	CCDS13854.1	22																																																																																			GAS2L1	-	NULL	ENSG00000185340		0.701	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L1	HGNC	protein_coding	OTTHUMT00000321342.1	-	0	49	0	G			29708357	1	tier1	-	no_errors	ENST00000406549	ensembl	human	putative	74_37	silent	10.26	35	4	SNP	0.998	A	A	29708357	G	A	29708357	1	1	149	0	1	0	0	0	0	0	0	0	6271	971	34	3		3	GAS2L1	22	29708357	IGR	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	12635625	29708357	21596209	240	38091											
SF3A1	10291	genome.wustl.edu	37	chr22	30738219	30738219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggttggaagtccactgtttCcaccaccacaaaatcatgcc	11	9	8	13	0	1	0	1	0	0	0	3	1	3	1	5	2	1	2	5	2	3	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr22:30738219C>T	ENST00000215793.8	-	6	1001	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	SF3A1_ENST00000439242.1_Missense_Mutation_p.E218K	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	283					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCCACTGTTTCCACCACCACA	0.542																																																	0													139	111	120					22																	30738219		2203	4300	6503	SO:0001583	missense	0			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.847G>A	22.37:g.30738219C>T	ENSP00000215793:p.Glu283Lys		E9PAW1	Missense_Mutation	SNP	pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.E283K	ENST00000215793.8	37	c.847	CCDS13875.1	22	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935280	0.92458	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	T;T	0.39787	1.06;1.06	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.74589	0.3736	M	0.92077	3.27	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.78753	-0.2081	10	0.66056	D	0.02	-18.9275	20.6439	0.99570	0.0:1.0:0.0:0.0	.	283	Q15459	SF3A1_HUMAN	K	218;283;180	ENSP00000390336:E218K;ENSP00000215793:E283K	ENSP00000215793:E283K	E	-	1	0	SF3A1	29068219	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.773000	0.85462	2.884000	0.98904	0.655000	0.94253	GAA	SF3A1	-	pfam_PRP21-like	ENSG00000099995		0.542	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	HGNC	protein_coding	OTTHUMT00000320916.2	-	0	13	0	C	NM_005877		30738219	-1	tier1	-	no_errors	ENST00000215793	ensembl	human	known	74_37	missense	71.43	4	10	SNP	1.000	T	T	30738219	C	T	30738219	3	4	149	1	0	0	0	0	1	0	0	0	14191	864	30	3	1578	3	SF3A1	22	30738219	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	1029862	30738219	20566347	241	38092											
CACNA1I	8911	genome.wustl.edu	37	chr22	40055037	40055037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttcatgcctgccctgcGgcgccagctcgtggtgctca	3	9	13	16	4	2	0	2	0	0	0	3	0	2	0	3	2	5	3	3	2	0	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chr22:40055037G>A	ENST00000402142.3	+	12	2246	c.2246G>A	c.(2245-2247)cGg>cAg	p.R749Q	CACNA1I_ENST00000401624.1_Missense_Mutation_p.R749Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R714Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R714Q|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R755Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R714Q	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	749					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)	CCTGCCCTGCGGCGCCAGCTC	0.622																																																	0													55	62	59					22																	40055037		2181	4276	6457	SO:0001583	missense	0			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.2246G>A	22.37:g.40055037G>A	ENSP00000385019:p.Arg749Gln		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R755Q	ENST00000402142.3	37	c.2264	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434999	0.83885	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14;-5.14;-5.14	4.81	4.81	0.61882	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98210	0.9408	L	0.39020	1.185	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	D;D;D;D	0.87578	0.998;0.998;0.93;0.997	D	0.97265	0.9907	10	0.09590	T	0.72	.	18.245	0.89982	0.0:0.0:1.0:0.0	.	714;749;714;749	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Q	749;714;749;714;755;714	ENSP00000385019:R749Q;ENSP00000384093:R714Q;ENSP00000383887:R749Q;ENSP00000385680:R714Q;ENSP00000337829:R755Q;ENSP00000383028:R714Q	ENSP00000337829:R755Q	R	+	2	0	CACNA1I	38384983	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.656000	0.74396	2.370000	0.80446	0.655000	0.94253	CGG	CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	-	0	83	0	G	NM_001003406		40055037	1	tier1	-	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	A	A	40055037	G	A	40055037	3	1	149	1	0	0	0	0	1	0	0	0	2553	1116	39	1	2292	1	CACNA1I	22	40055037	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	9316818	40055037	11249529	242	38093											
MAGEB1	4112	genome.wustl.edu	37	chrX	30269482	30269482	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcctcgagtttttggccaAgatgaatggtgccactcccc	8	11	10	12	1	0	2	0	1	0	1	3	3	2	2	5	2	1	1	5	2	2	2			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:30269482A>G	ENST00000378981.3	+	4	1193	c.872A>G	c.(871-873)aAg>aGg	p.K291R	MAGEB1_ENST00000397550.1_Missense_Mutation_p.K291R|MAGEB1_ENST00000397548.2_Missense_Mutation_p.K291R	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	291	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TTTTTGGCCAAGATGAATGGT	0.527																																																	0													137	114	122					X																	30269482		2202	4300	6502	SO:0001583	missense	0				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.872A>G	X.37:g.30269482A>G	ENSP00000368264:p.Lys291Arg		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K291R	ENST00000378981.3	37	c.872	CCDS14222.1	X	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403286	0.25291	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.02032	4.49;4.49;4.49	3.86	2.7	0.31948	.	0.249006	0.39909	N	0.001232	T	0.03263	0.0095	L	0.58583	1.82	0.09310	N	0.999999	B	0.31413	0.322	B	0.36464	0.225	T	0.33954	-0.9848	10	0.49607	T	0.09	.	5.0231	0.14370	0.8641:0.0:0.1359:0.0	.	291	P43366	MAGB1_HUMAN	R	291	ENSP00000368264:K291R;ENSP00000380683:K291R;ENSP00000380681:K291R	ENSP00000368264:K291R	K	+	2	0	MAGEB1	30179403	0.265000	0.24102	0.443000	0.26883	0.082000	0.17680	0.346000	0.19997	0.656000	0.30886	0.417000	0.27973	AAG	MAGEB1	-	pfscan_MAGE	ENSG00000214107		0.527	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	-	0	19	0	A	NM_002363		30269482	1	tier1	-	no_errors	ENST00000378981	ensembl	human	known	74_37	missense	69.23	8	18	SNP	0.409	G	G	30269482	A	G	30269482	3	3	149	1	0	0	0	0	1	0	0	0	9210	72	3	4	874	4	MAGEB1	23	30269482	Missense_Mutation	SNP	A	TCGA-R6-A8W8-01B-11D-A37C-09		30269482	125001078	243	38094											
NHSL2	340527	genome.wustl.edu	37	chrX	71357028	71357028	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagtccaccctgaggcGgaggcggaccattattggat	9	7	12	13	2	0	1	0	1	0	0	1	4	1	4	5	5	0	0	5	5	2	2	rs199659776		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:71357028G>A	ENST00000373677.1	+	2	1056				NHSL2_ENST00000510661.1_Intron|NHSL2_ENST00000540800.1_Missense_Mutation_p.R282Q|NHSL2_ENST00000535692.1_Intron			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)					ACCCTGAGGCGGAGGCGGACC	0.522																																																	0								G	GLN/ARG	0,1209		0,0,0,517,175	101	91	94		845	4.6	1	X		94	2,2389		0,1,1,799,790	yes	missense	NHSL2	NM_001013627.2	43	0,1,1,1316,965	AA,AG,A,GG,G		0.0836,0.0,0.0556	probably-damaging	282/1226	71357028	2,3598	692	1591	2283	SO:0001627	intron_variant	0					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.-206-1263G>A	X.37:g.71357028G>A			B2RN94	Missense_Mutation	SNP	NULL	p.R282Q	ENST00000373677.1	37	c.845		X	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025920	0.93518	0.0	8.36E-4	ENSG00000204131	ENST00000540800	T	0.69306	-0.39	5.48	4.62	0.57501	.	.	.	.	.	T	0.67173	0.2865	L	0.49126	1.545	0.80722	D	1	D	0.67145	0.996	P	0.50537	0.643	T	0.68804	-0.5312	9	0.59425	D	0.04	.	11.1397	0.48396	0.0918:0.0:0.9082:0.0	.	282	F5H593	.	Q	282	ENSP00000444617:R282Q	ENSP00000444617:R282Q	R	+	2	0	NHSL2	71273753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.505000	0.73708	1.094000	0.41399	0.529000	0.55759	CGG	NHSL2	-	NULL	ENSG00000204131		0.522	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	-	0	20	0	G	NM_001013627		71357028	1	tier1	rs199659776	no_errors	ENST00000540800	ensembl	human	known	74_37	missense	84.62	4	22	SNP	1.000	A	A	71357028	G	A	71357028	1	1	149	0	1	0	0	0	0	0	0	0	10451	1116	39	1		1	NHSL2	23	71357028	Intron	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	41087546	71357028	83913532	244	38095											
MAGEE2	139599	genome.wustl.edu	37	chrX	75003412	75003412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgttctggccagttctgtGgtcgctttctgtagagcctg	4	16	12	9	1	3	1	0	0	3	1	4	1	3	1	2	2	1	4	2	2	1	5			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:75003412G>A	ENST00000373359.2	-	1	1667	c.1475C>T	c.(1474-1476)cCa>cTa	p.P492L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	492	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGTTCTGTGGTCGCTTTCT	0.478																																																	0													90	70	77					X																	75003412		2203	4300	6503	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1475C>T	X.37:g.75003412G>A	ENSP00000362457:p.Pro492Leu		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P492L	ENST00000373359.2	37	c.1475	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536705	0.27475	.	.	ENSG00000186675	ENST00000373359	T	0.08896	3.04	2.73	1.81	0.25067	.	.	.	.	.	T	0.12987	0.0315	M	0.84156	2.68	0.18873	N	0.999983	P	0.47762	0.9	B	0.41510	0.359	T	0.16897	-1.0387	9	0.87932	D	0	.	6.0626	0.19846	0.0:0.0:0.6966:0.3034	.	492	Q8TD90	MAGE2_HUMAN	L	492	ENSP00000362457:P492L	ENSP00000362457:P492L	P	-	2	0	MAGEE2	74920137	0.993000	0.37304	0.007000	0.13788	0.670000	0.39368	0.718000	0.25866	0.531000	0.28639	0.417000	0.27973	CCA	MAGEE2	-	pfscan_MAGE	ENSG00000186675		0.478	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	-	0	37	0	G	NM_138703		75003412	-1	tier1	-	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	69.77	13	30	SNP	0.006	A	A	75003412	G	A	75003412	3	1	149	1	0	0	0	0	1	0	0	0	9224	1348	47	3	100	3	MAGEE2	23	75003412	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	3646384	75003412	80267148	245	38096											
DIAPH2	1730	genome.wustl.edu	37	chrX	95993591	95993591	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttgtttgcagcgtgacCgaattacaagttttagaaaa	13	15	8	5	2	0	2	0	1	0	1	0	3	0	2	1	0	3	3	1	0	6	6			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:95993591C>T	ENST00000324765.8	+	3	519	c.172C>T	c.(172-174)Cga>Tga	p.R58*	DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.R58*|DIAPH2_ENST00000355827.4_Nonsense_Mutation_p.R58*|DIAPH2_ENST00000373049.4_Nonsense_Mutation_p.R58*|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.R47*			O60879	DIAP2_HUMAN	diaphanous-related formin 2	58					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.R58*(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GCAGCGTGACCGAATTACAAG	0.333																																																	1	Substitution - Nonsense(1)	lung(1)											32	32	32					X																	95993591		2202	4299	6501	SO:0001587	stop_gained	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.172C>T	X.37:g.95993591C>T	ENSP00000321348:p.Arg58*		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Nonsense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.R58*	ENST00000324765.8	37	c.172	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	41	8.640005	0.98897	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	.	.	.	5.62	4.7	0.59300	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7693	0.46312	0.3891:0.6109:0.0:0.0	.	.	.	.	X	58;47;58;58;58;58	.	ENSP00000321348:R58X	R	+	1	2	DIAPH2	95880247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.712000	0.61888	2.353000	0.79882	0.600000	0.82982	CGA	DIAPH2	-	NULL	ENSG00000147202		0.333	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2		0	10	0	C	NM_006729, NM_007309		95993591	1			no_errors	ENST00000324765	ensembl	human	known	74_37	nonsense	53.85	6	7	SNP	1.000	T	T	95993591	C	T	95993591	4	4	149	1	0	0	0	0	0	1	0	0	4533	644	23	1	182	1	DIAPH2	23	95993591	Nonsense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	20990179	95993591	59276969	246	38097											
H2BFWT	158983	genome.wustl.edu	37	chrX	103268123	103268123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatcagctgttcctcagagGtcgtctcagaggaaggtcca	9	10	12	10	1	3	3	3	1	1	2	7	4	5	4	2	3	1	2	2	3	1	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:103268123G>T	ENST00000217926.5	-	1	136	c.110C>A	c.(109-111)aCc>aAc	p.T37N	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	37						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TTCCTCAGAGGTCGTCTCAGA	0.632																																																	0													72	56	61					X																	103268123		2203	4300	6503	SO:0001583	missense	0			BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"Histones / Replication-independent"	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.110C>A	X.37:g.103268123G>T	ENSP00000354723:p.Thr37Asn		B1AK72|Q147W3	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.T37N	ENST00000217926.5	37	c.110	CCDS35362.1	X	.	.	.	.	.	.	.	.	.	.	.	6.840	0.524207	0.13066	.	.	ENSG00000123569	ENST00000217926	T	0.21543	2.0	2.42	-3.52	0.04682	.	.	.	.	.	T	0.08403	0.0209	N	0.24115	0.695	0.09310	N	1	P	0.48407	0.91	B	0.36030	0.216	T	0.11372	-1.0590	9	0.41790	T	0.15	.	0.8215	0.01112	0.261:0.3387:0.2281:0.1722	.	37	Q7Z2G1	H2BWT_HUMAN	N	37	ENSP00000354723:T37N	ENSP00000354723:T37N	T	-	2	0	H2BFWT	103154779	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.145000	0.10265	-1.276000	0.02414	-0.238000	0.12139	ACC	H2BFWT	-	NULL	ENSG00000123569		0.632	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2BFWT	HGNC	protein_coding	OTTHUMT00000057756.2	-	0	56	0	G	NM_001002916		103268123	-1	tier1	-	no_errors	ENST00000217926	ensembl	human	known	74_37	missense	74.36	10	29	SNP	0.000	T	T	103268123	G	T	103268123	3	4	149	1	0	0	0	0	1	0	0	0	6959	1261	44	3	425	3	H2BFWT	23	103268123	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	7274532	103268123	52002437	247	38098											
DCAF12L2	340578	genome.wustl.edu	37	chrX	125298723	125298723	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcctccctgcgggcccCggcatggagtccaggctgga	5	7	14	15	2	0	0	0	0	0	0	3	2	3	2	5	5	2	3	5	5	0	1			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:125298723C>T	ENST00000360028.2	-	1	1211	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P	DCAF12L2_ENST00000538699.1_Silent_p.P395P			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	395										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						CTGCGGGCCCCGGCATGGAGT	0.612																																																	0													71	76	74					X																	125298723		2198	4299	6497	SO:0001819	synonymous_variant	0			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.1185G>A	X.37:g.125298723C>T			B2RN42	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P395	ENST00000360028.2	37	c.1185	CCDS43991.1	X																																																																																			DCAF12L2	-	NULL	ENSG00000198354		0.612	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	-	0	30	0	C	NM_001013628		125298723	-1	tier1	-	no_errors	ENST00000360028	ensembl	human	known	74_37	silent	35.42	31	17	SNP	0.000	T	T	125298723	C	T	125298723	2	4	149	1	0	0	0	0	0	0	0	1	4274	639	23	1		1	DCAF12L2	23	125298723	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	22030600	125298723	29971837	248	38099											
DCAF12L1	139170	genome.wustl.edu	37	chrX	125686171	125686171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggtcctgggccagcctggCctcactgtcccgcaagaggg	5	8	14	14	1	1	1	1	0	0	1	3	1	3	1	5	4	1	1	5	4	1	1	rs201996325		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:125686171C>A	ENST00000371126.1	-	1	663	c.421G>T	c.(421-423)Gcc>Tcc	p.A141S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	141										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCAGCCTGGCCTCACTGTCC	0.637																																																	0													101	85	91					X																	125686171		2203	4300	6503	SO:0001583	missense	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.421G>T	X.37:g.125686171C>A	ENSP00000360167:p.Ala141Ser		Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A141S	ENST00000371126.1	37	c.421	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	C	1.612	-0.523768	0.04141	.	.	ENSG00000198889	ENST00000371126	T	0.31510	1.49	4.15	1.05	0.20165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.14830	0.0358	N	0.24115	0.695	0.09310	N	1	B	0.26672	0.156	B	0.19666	0.026	T	0.30851	-0.9964	9	0.08599	T	0.76	.	5.4821	0.16729	0.1279:0.4684:0.4037:0.0	.	141	Q5VU92	DC121_HUMAN	S	141	ENSP00000360167:A141S	ENSP00000360167:A141S	A	-	1	0	DCAF12L1	125513852	0.534000	0.26362	0.073000	0.20177	0.119000	0.20118	2.388000	0.44398	0.318000	0.23185	0.424000	0.28305	GCC	DCAF12L1	-	superfamily_WD40_repeat_dom	ENSG00000198889		0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0	59	0	C	NM_178470		125686171	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	missense	50.68	36	37	SNP	0.006	A	A	125686171	C	A	125686171	3	1	149	1	0	0	0	0	1	0	0	0	4273	739	26	3	974	3	DCAF12L1	23	125686171	Missense_Mutation	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	387448	125686171	29584389	249	38100											
ZIC3	7547	genome.wustl.edu	37	chrX	136649852	136649852	+	Silent	SNP	C	C	A	0	0	0	1	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	ttcccatgccccttcccgggCtgcgggaagatctttgcccg	4	10	11	16	3	1	1	0	0	1	1	3	2	3	2	5	2	3	1	5	2	1	3			TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:136649852C>A	ENST00000287538.5	+	1	1552	c.1002C>A	c.(1000-1002)ggC>ggA	p.G334G	ZIC3_ENST00000370606.3_Silent_p.G334G	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	334	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCTTCCCGGGCTGCGGGAAGA	0.587																																																	0													65	71	69					X																	136649852		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1002C>A	X.37:g.136649852C>A			B2CNW4|Q14DE5|Q5JY75	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G334	ENST00000287538.5	37	c.1002	CCDS14663.1	X																																																																																			ZIC3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000156925		0.587	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	-	0	17	0	C			136649852	1	tier1	-	no_errors	ENST00000287538	ensembl	human	known	74_37	silent	75.00	3	9	SNP	1.000	A	A	136649852	C	A	136649852	2	1	149	1	0	0	0	0	0	0	0	1	17728	784	28	3		3	ZIC3	23	136649852	Silent	SNP	C	TCGA-R6-A8W8-01B-11D-A37C-09	10963681	136649852	18620708	250	38101											
GPR50	9248	genome.wustl.edu	37	chrX	150348680	150348680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtgggtttctgctacGtgaggatctggaccaaagtg	8	12	13	8	2	3	1	1	1	2	0	4	3	3	3	1	3	2	2	1	3	2	2	rs367648979		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:150348680G>A	ENST00000218316.3	+	2	694	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	209					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)					TTTCTGCTACGTGAGGATCTG	0.512																																																	0													218	192	200					X																	150348680		2101	4218	6319	SO:0001583	missense	0			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.625G>A	X.37:g.150348680G>A	ENSP00000218316:p.Val209Met		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.V209M	ENST00000218316.3	37	c.625	CCDS44012.1	X	.	.	.	.	.	.	.	.	.	.	g	2.969	-0.212868	0.06140	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.72394	-0.65	4.33	-8.66	0.00866	GPCR, rhodopsin-like superfamily (1);	1.010920	0.07923	N	0.976253	T	0.46600	0.1401	N	0.20766	0.605	0.09310	N	0.999997	B;B	0.30021	0.006;0.265	B;B	0.23419	0.01;0.046	T	0.39165	-0.9627	10	0.46703	T	0.11	2.3291	8.5245	0.33296	0.5253:0.3633:0.1114:0.0	.	162;209	F5H1S3;Q13585	.;MTR1L_HUMAN	M	162;209	ENSP00000218316:V209M	ENSP00000218316:V209M	V	+	1	0	GPR50	150099338	0.181000	0.23161	0.006000	0.13384	0.411000	0.31082	-0.092000	0.11129	-1.771000	0.01293	-2.301000	0.00260	GTG	GPR50	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000102195		0.512	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	HGNC	protein_coding	OTTHUMT00000060874.1	-	0	15	0	G	NM_004224		150348680	1	tier1	-	no_errors	ENST00000218316	ensembl	human	known	74_37	missense	82.35	3	14	SNP	0.638	A	A	150348680	G	A	150348680	3	1	149	1	0	0	0	0	1	0	0	0	6723	1145	40	1	631	1	GPR50	23	150348680	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	13698828	150348680	4921880	251	38102											
PDZD4	57595	genome.wustl.edu	37	chrX	153069776	153069776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacagctcgtgcttcttggGctcgctggccgccaggtcgt	3	10	15	13	4	1	0	0	0	1	0	4	1	1	1	2	4	2	4	2	4	0	2	rs191427632		TCGA-R6-A8W8-01B-11D-A37C-09	TCGA-R6-A8W8-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba30aa87-f4c3-4a28-991c-710d22fb6c3b	bca419df-bf41-4dab-bf70-f3c6c35b1fdf	g.chrX:153069776G>A	ENST00000164640.4	-	8	1533	c.1342C>T	c.(1342-1344)Ccc>Tcc	p.P448S	PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.P339S|PDZD4_ENST00000393758.2_Missense_Mutation_p.P373S	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	448						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTCTTGGGCTCGCTGGCC	0.647																																																	0													34	32	33					X																	153069776		2201	4291	6492	SO:0001583	missense	0			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1342C>T	X.37:g.153069776G>A	ENSP00000164640:p.Pro448Ser		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P448S	ENST00000164640.4	37	c.1342	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	G	2.052	-0.417456	0.04766	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.03982	3.74;3.74;3.95	4.97	4.97	0.65823	.	0.719615	0.11100	U	0.599749	T	0.03053	0.0090	N	0.11927	0.2	0.29709	N	0.839535	B;B;B;B;B	0.26975	0.021;0.021;0.165;0.038;0.007	B;B;B;B;B	0.19391	0.004;0.016;0.025;0.018;0.004	T	0.22487	-1.0215	10	0.08837	T	0.75	-27.9227	11.387	0.49791	0.0:0.0:0.819:0.181	.	339;454;448;373;352	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	S	448;373;352;339	ENSP00000164640:P448S;ENSP00000377355:P373S;ENSP00000442033:P339S	ENSP00000164640:P448S	P	-	1	0	PDZD4	152722970	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.175000	0.58263	2.055000	0.61198	0.436000	0.28706	CCC	PDZD4	-	NULL	ENSG00000067840		0.647	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	-	0	32	0	G	NM_032512		153069776	-1	tier1	-	no_errors	ENST00000164640	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	153069776	G	A	153069776	3	1	149	1	0	0	0	0	1	0	0	0	11742	1203	42	3	971	3	PDZD4	23	153069776	Missense_Mutation	SNP	G	TCGA-R6-A8W8-01B-11D-A37C-09	2721096	153069776	2200784	252	38103											
PLEKHN1	84069	genome.wustl.edu	37	chr1	908701	908701	+	Missense_Mutation	SNP	A	A	G	1	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	ccccactgcacctggacctgAcccaggtgggcccagcacac	8	4	10	19	0	0	1	0	1	0	0	0	2	0	2	6	3	2	2	6	3	0	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:908701A>G	ENST00000379409.2	+	11	1474	c.1444A>G	c.(1444-1446)Acc>Gcc	p.T482A	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.T430A|PLEKHN1_ENST00000379407.3_Intron			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	482										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCTGGACCTGACCCAGGTGGG	0.701																																																	0													9	10	10					1																	908701		2162	4252	6414	SO:0001583	missense	0			AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1444A>G	1.37:g.908701A>G	ENSP00000368719:p.Thr482Ala		Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	smart_Pleckstrin_homology	p.T482A	ENST00000379409.2	37	c.1444		1	.	.	.	.	.	.	.	.	.	.	A	8.172	0.791891	0.16258	.	.	ENSG00000187583	ENST00000379410;ENST00000379409	T;T	0.48836	0.81;0.8	4.4	3.27	0.37495	.	0.477328	0.21939	N	0.066912	T	0.30293	0.0760	L	0.32530	0.975	0.30037	N	0.812928	B;B	0.28350	0.208;0.005	B;B	0.22152	0.038;0.007	T	0.24190	-1.0167	10	0.51188	T	0.08	.	3.6159	0.08077	0.7027:0.0:0.1045:0.1927	.	482;430	Q494U1;Q494U1-2	PKHN1_HUMAN;.	A	430;482	ENSP00000368720:T430A;ENSP00000368719:T482A	ENSP00000368719:T482A	T	+	1	0	PLEKHN1	898564	0.032000	0.19561	1.000000	0.80357	0.567000	0.35839	0.575000	0.23729	0.735000	0.32537	0.386000	0.25728	ACC	PLEKHN1	-	NULL	ENSG00000187583		0.701	PLEKHN1-005	KNOWN	basic	protein_coding	PLEKHN1	HGNC	protein_coding	OTTHUMT00000473256.1	-	0	78	0	A	NM_032129		908701	1	tier1	-	no_errors	ENST00000379409	ensembl	human	known	74_37	missense	48.39	32	30	SNP	0.994	G	G	908701	A	G	908701	3	3	150	1	0	0	0	0	1	0	0	0	12122	275	10	4	1370	4	PLEKHN1	1	908701	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09		908701	248341920	1	38104											
CHD5	26038	genome.wustl.edu	37	chr1	6188230	6188230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagcttggagatggccGcatcgtcatagtggatcaca	10	8	12	11	2	2	1	2	0	0	1	3	3	2	2	2	3	2	3	2	3	1	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:6188230G>A	ENST00000262450.3	-	25	3878	c.3779C>T	c.(3778-3780)gCg>gTg	p.A1260V	CHD5_ENST00000378021.1_Missense_Mutation_p.A117V	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAGATGGCCGCATCGTCATA	0.572																																																	0													182	133	150					1																	6188230		2203	4300	6503	SO:0001583	missense	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3779C>T	1.37:g.6188230G>A	ENSP00000262450:p.Ala1260Val		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A1260V	ENST00000262450.3	37	c.3779	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581017	0.65992	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.91295	-2.82;2.13	4.29	4.29	0.51040	.	0.156294	0.41938	D	0.000787	D	0.83496	0.5267	L	0.35414	1.06	0.38108	D	0.937489	B;B	0.31581	0.329;0.189	B;B	0.17433	0.013;0.018	D	0.84940	0.0865	10	0.52906	T	0.07	-21.5698	12.5963	0.56472	0.0:0.1676:0.8324:0.0	.	1260;117	Q8TDI0;Q5TG85	CHD5_HUMAN;.	V	1260;776;117;668;668;117	ENSP00000262450:A1260V;ENSP00000367260:A117V	ENSP00000262450:A1260V	A	-	2	0	CHD5	6110817	0.992000	0.36948	0.992000	0.48379	0.945000	0.59286	4.417000	0.59822	2.089000	0.63090	0.462000	0.41574	GCG	CHD5	-	NULL	ENSG00000116254		0.572	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2		0	43	0	G	NM_015557		6188230	-1			no_errors	ENST00000262450	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.908	A	A	6188230	G	A	6188230	3	1	150	1	0	0	0	0	1	0	0	0	3335	1087	38	1	2153	1	CHD5	1	6188230	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	5279529	6188230	243062391	2	38105											
PTCHD2	57540	genome.wustl.edu	37	chr1	11589626	11589626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggaagctgtacttcGcccagtcccacaagcccccc	9	6	7	19	1	0	0	0	0	0	0	3	1	2	1	6	1	3	2	6	1	3	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:11589626G>A	ENST00000294484.6	+	14	2950	c.2812G>A	c.(2812-2814)Gcc>Acc	p.A938T	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A938T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	938					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)		GCTGTACTTCGCCCAGTCCCA	0.647																																																	0													56	62	60					1																	11589626		2023	4178	6201	SO:0001583	missense	0			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.2812G>A	1.37:g.11589626G>A	ENSP00000294484:p.Ala938Thr		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.A938T	ENST00000294484.6	37	c.2812	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744683	0.69418	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.92299	-3.0;-3.01	4.92	4.92	0.64577	.	0.070383	0.56097	D	0.000035	D	0.87382	0.6163	L	0.27053	0.805	0.41956	D	0.990681	D	0.58268	0.982	P	0.44921	0.464	D	0.88668	0.3193	10	0.59425	D	0.04	-14.4108	12.2501	0.54593	0.0:0.0:0.8302:0.1698	.	938	Q9P2K9	PTHD2_HUMAN	T	938	ENSP00000294484:A938T;ENSP00000374226:A938T	ENSP00000294484:A938T	A	+	1	0	PTCHD2	11512213	1.000000	0.71417	0.890000	0.34922	0.593000	0.36681	6.982000	0.76173	2.256000	0.74724	0.561000	0.74099	GCC	PTCHD2	-	NULL	ENSG00000204624		0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	-	0	55	0	G	XM_052561		11589626	1	tier1	-	no_errors	ENST00000294484	ensembl	human	known	74_37	missense	37.84	23	14	SNP	1.000	A	A	11589626	G	A	11589626	3	1	150	1	0	0	0	0	1	0	0	0	12775	1087	38	1	2862	1	PTCHD2	1	11589626	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	5401396	11589626	237660995	3	38106											
HSPG2	3339	genome.wustl.edu	37	chr1	22201217	22201217	+	Silent	SNP	A	A	G	1	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	gtgcgtgtgtagcctgtgtcAcagtcctgggggcagaaaga	8	9	16	8	1	1	2	1	0	0	2	2	2	2	2	2	2	2	2	2	2	2	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:22201217A>G	ENST00000374695.3	-	27	3499	c.3420T>C	c.(3418-3420)tgT>tgC	p.C1140C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1140	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)	AGCCTGTGTCACAGTCCTGGG	0.637																																																	0													34	37	36					1																	22201217		2203	4298	6501	SO:0001819	synonymous_variant	0			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.3420T>C	1.37:g.22201217A>G			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.C1140	ENST00000374695.3	37	c.3420	CCDS30625.1	1																																																																																			HSPG2	-	pfam_EGF_laminin	ENSG00000142798		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1		0	88	0	A	NM_005529		22201217	-1			no_errors	ENST00000374695	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	G	G	22201217	A	G	22201217	2	3	150	1	0	0	0	0	0	0	0	1	7457	157	6	4		4	HSPG2	1	22201217	Silent	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	10611591	22201217	227049404	4	38107											
C1QC	714	genome.wustl.edu	37	chr1	22970666	22970666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagggaaggatgggtaCgacggactgccggggcccaa	10	3	17	11	3	0	0	0	0	0	0	0	4	0	3	3	6	2	2	3	6	3	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:22970666C>T	ENST00000374639.3	+	2	268	c.150C>T	c.(148-150)taC>taT	p.Y50Y	C1QC_ENST00000374640.4_Silent_p.Y50Y|C1QC_ENST00000374637.1_Silent_p.Y50Y	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	50	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGATGGGTACGACGGACTGC	0.682																																					Ovarian(26;671 750 8290 29071 43278)												0													16	18	17					1																	22970666		2187	4282	6469	SO:0001819	synonymous_variant	0			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.150C>T	1.37:g.22970666C>T			Q7Z502|Q96DL2|Q96H05	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.Y50	ENST00000374639.3	37	c.150	CCDS227.1	1																																																																																			C1QC	-	pfam_Collagen	ENSG00000159189		0.682	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	HGNC	protein_coding	OTTHUMT00000008083.1		0	67	0	C	NM_172369		22970666	1			no_errors	ENST00000374637	ensembl	human	known	74_37	silent	5.00	56	3	SNP	0.442	T	T	22970666	C	T	22970666	2	4	150	1	0	0	0	0	0	0	0	1	1964	547	19	1		1	C1QC	1	22970666	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	769449	22970666	226279955	5	38108											
YTHDF2	51441	genome.wustl.edu	37	chr1	29069108	29069108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcaatgtttgggcaaccagGagccctaggtagcactccat	10	9	11	11	0	0	0	0	0	0	0	1	1	1	1	3	3	4	5	3	3	4	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:29069108G>A	ENST00000373812.3	+	4	688	c.326G>A	c.(325-327)gGa>gAa	p.G109E	YTHDF2_ENST00000542507.1_Missense_Mutation_p.G109E|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.G59E	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	109	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-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)		GGGCAACCAGGAGCCCTAGGT	0.502																																																	0													180	174	176					1																	29069108		1947	4145	6092	SO:0001583	missense	0			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"YTH domain family 2"			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.326G>A	1.37:g.29069108G>A	ENSP00000362918:p.Gly109Glu		A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.G109E	ENST00000373812.3	37	c.326	CCDS41296.1	1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763837	0.69878	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.36520	1.34;1.34;1.25	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.986	T	0.61589	-0.7032	10	0.87932	D	0	-20.6763	17.9052	0.88916	0.0:0.0:1.0:0.0	.	109;109	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	E	109;109;59;109	ENSP00000444660:G109E;ENSP00000362918:G109E;ENSP00000439394:G59E	ENSP00000362918:G109E	G	+	2	0	YTHDF2	28941695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.714000	0.98744	2.594000	0.87642	0.585000	0.79938	GGA	YTHDF2	-	NULL	ENSG00000198492		0.502	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF2	HGNC	protein_coding	OTTHUMT00000010335.1	-	0	65	0	G	NM_016258		29069108	1	tier1	-	no_errors	ENST00000373812	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	29069108	G	A	29069108	3	1	150	1	0	0	0	0	1	0	0	0	17548	1174	41	3	340	3	YTHDF2	1	29069108	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	6098442	29069108	220181513	6	38109											
BAI2	576	genome.wustl.edu	37	chr1	32207538	32207538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttagagcacaggctccacGcattccatggcccccacttg	8	9	8	16	1	1	1	0	0	1	1	3	1	3	1	4	2	1	3	4	2	1	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:32207538G>A	ENST00000373658.3	-	9	1789	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	BAI2_ENST00000527361.1_Missense_Mutation_p.A483V|BAI2_ENST00000257070.4_Missense_Mutation_p.A483V|BAI2_ENST00000398547.1_Missense_Mutation_p.A416V|BAI2_ENST00000398556.3_Missense_Mutation_p.A431V|BAI2_ENST00000398538.1_Missense_Mutation_p.A471V|BAI2_ENST00000440175.2_Missense_Mutation_p.A125V|BAI2_ENST00000373655.2_Missense_Mutation_p.A483V|BAI2_ENST00000398542.1_Missense_Mutation_p.A416V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	483	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		CAGGCTCCACGCATTCCATGG	0.642																																																	0													66	65	65					1																	32207538		2203	4300	6503	SO:0001583	missense	0			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.1448C>T	1.37:g.32207538G>A	ENSP00000362762:p.Ala483Val		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.A483V	ENST00000373658.3	37	c.1448	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171248	0.38315	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	4.95	4.95	0.65309	.	0.000000	0.38778	N	0.001572	T	0.49558	0.1564	L	0.39566	1.225	0.09310	N	1	B;P;B;B;B;D;B	0.53885	0.386;0.544;0.334;0.16;0.386;0.963;0.386	B;B;B;B;B;P;B	0.50049	0.104;0.1;0.038;0.028;0.064;0.629;0.104	T	0.41305	-0.9516	10	0.26408	T	0.33	.	11.1636	0.48531	0.0:0.0:0.7045:0.2955	.	416;483;471;125;416;483;483	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	V	431;416;483;483;416;483;483;125;471;421;462	ENSP00000381564:A431V;ENSP00000381555:A416V;ENSP00000362762:A483V;ENSP00000362759:A483V;ENSP00000381550:A416V;ENSP00000257070:A483V;ENSP00000435397:A483V;ENSP00000391071:A125V;ENSP00000381548:A471V;ENSP00000410921:A421V;ENSP00000437219:A462V	ENSP00000257070:A483V	A	-	2	0	BAI2	31980125	0.306000	0.24490	0.009000	0.14445	0.950000	0.60333	2.883000	0.48554	2.457000	0.83068	0.561000	0.74099	GCG	BAI2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000121753		0.642	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0	30	0	G	NM_001703		32207538	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	12.12	28	4	SNP	0.116	A	A	32207538	G	A	32207538	3	1	150	1	0	0	0	0	1	0	0	0	1300	1087	38	1	3409	1	BAI2	1	32207538	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	3138430	32207538	217043083	7	38110											
GRIK3	2899	genome.wustl.edu	37	chr1	37325592	37325592	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgcctgagtagcggtaGggctccaggtctaaagcgta	9	9	13	10	3	2	1	1	1	1	0	3	1	3	1	2	3	2	4	2	3	5	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:37325592G>T	ENST00000373091.3	-	6	829	c.813C>A	c.(811-813)ccC>ccA	p.P271P	GRIK3_ENST00000373093.4_Silent_p.P271P|GRIK3_ENST00000462621.1_5'Flank	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	271					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AGTAGCGGTAGGGCTCCAGGT	0.567																																																	0													94	100	98					1																	37325592		2203	4300	6503	SO:0001819	synonymous_variant	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.813C>A	1.37:g.37325592G>T			A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P271	ENST00000373091.3	37	c.813	CCDS416.1	1																																																																																			GRIK3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000163873		0.567	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0	50	0	G	NM_000831		37325592	-1	tier1	-	no_errors	ENST00000373091	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T	T	37325592	G	T	37325592	2	4	150	1	0	0	0	0	0	0	0	1	6802	987	35	3		3	GRIK3	1	37325592	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	5118054	37325592	211925029	8	38111											
RPS8	6202	genome.wustl.edu	37	chr1	45242355	45242355	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgttttccagattggcccCcgccgcatccacacagtccg	6	10	9	16	3	0	1	0	0	0	1	3	1	3	1	6	1	0	2	6	1	0	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:45242355C>G	ENST00000396651.3	+	3	280	c.120C>G	c.(118-120)ccC>ccG	p.P40P	SNORD46_ENST00000364043.1_RNA|RPS8_ENST00000372209.3_Silent_p.P40P|RP11-269F19.2_ENST00000428791.1_RNA|RPS8_ENST00000485390.1_3'UTR|SNORD38A_ENST00000365161.1_RNA|SNORD55_ENST00000581525.1_RNA|SNORD38B_ENST00000384690.1_RNA			P62241	RS8_HUMAN	ribosomal protein S8	40					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					AGATTGGCCCCCGCCGCATCC	0.572																																																	0													51	45	47					1																	45242355		2203	4300	6503	SO:0001819	synonymous_variant	0			BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"S ribosomal proteins"	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.120C>G	1.37:g.45242355C>G			P09058|Q6IRL7	Silent	SNP	pfam_Ribosomal_S8e/biogenesis_NSA2,tigrfam_Ribosomal_S8e	p.P40	ENST00000396651.3	37	c.120	CCDS513.1	1																																																																																			RPS8	-	pfam_Ribosomal_S8e/biogenesis_NSA2,tigrfam_Ribosomal_S8e	ENSG00000142937		0.572	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS8	HGNC	protein_coding	OTTHUMT00000023439.1		0	65	0	C	NM_001012		45242355	1			no_errors	ENST00000396651	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.995	G	G	45242355	C	G	45242355	2	3	150	1	0	0	0	0	0	0	0	1	13706	610	22	5		5	RPS8	1	45242355	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	7916763	45242355	204008266	9	38112											
NRD1	4898	genome.wustl.edu	37	chr1	52344164	52344164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	cagaataggaaagggtctggCagcagcagagtcttcgcacc	12	6	13	10	1	2	2	0	0	2	2	3	3	2	3	1	3	2	4	1	3	3	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:52344164C>T	ENST00000354831.7	-	1	313	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	NRD1_ENST00000539524.1_5'Flank|NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Missense_Mutation_p.A42T	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	42					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						AAGGGTCTGGCAGCAGCAGAG	0.627																																																	0													48	47	47					1																	52344164		2203	4300	6503	SO:0001583	missense	0			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.124G>A	1.37:g.52344164C>T	ENSP00000346890:p.Ala42Thr		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.A42T	ENST00000354831.7	37	c.124	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.338002	0.60963	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000546169	T;T	0.31769	1.52;1.48	3.73	0.732	0.18283	.	1.052400	0.07564	N	0.917434	T	0.18964	0.0455	N	0.22421	0.69	0.23144	N	0.998221	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.30534	-0.9975	10	0.62326	D	0.03	.	3.1319	0.06426	0.2085:0.5581:0.0:0.2334	.	42;42;42	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	T	42	ENSP00000262679:A42T;ENSP00000346890:A42T	ENSP00000262679:A42T	A	-	1	0	NRD1	52116752	0.000000	0.05858	0.799000	0.32177	0.863000	0.49368	-1.258000	0.02863	-0.019000	0.14055	0.650000	0.86243	GCC	NRD1	-	NULL	ENSG00000078618		0.627	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1		0	51	0	C	NM_002525		52344164	-1			no_errors	ENST00000354831	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.293	T	T	52344164	C	T	52344164	3	4	150	1	0	0	0	0	1	0	0	0	10684	710	25	3	3667	3	NRD1	1	52344164	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	7101809	52344164	196906457	10	38113											
C1orf168	199920	genome.wustl.edu	37	chr1	57202804	57202804	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcatcataaataataacTtcctgagacttaagttctag	16	13	4	8	0	3	1	2	1	1	1	4	2	4	1	1	0	1	1	1	0	6	7			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:57202804T>G	ENST00000343433.6	-	15	1829	c.1749A>C	c.(1747-1749)gaA>gaC	p.E583D	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	583										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						AAATAATAACTTCCTGAGACT	0.338																																																	0													94	90	91					1																	57202804		2203	4297	6500	SO:0001583	missense	0			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.1749A>C	1.37:g.57202804T>G	ENSP00000345972:p.Glu583Asp		Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3_domain	p.E583D	ENST00000343433.6	37	c.1749	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	T	4.730	0.135778	0.09032	.	.	ENSG00000187889	ENST00000343433	T	0.31247	1.5	4.92	-0.791	0.10929	.	0.642141	0.14248	N	0.331634	T	0.14787	0.0357	N	0.16656	0.425	0.21386	N	0.999704	B	0.19935	0.04	B	0.16722	0.016	T	0.34004	-0.9846	10	0.11485	T	0.65	-1.8664	9.0615	0.36438	0.6413:0.0:0.0:0.3587	.	583	Q5VWT5	CA168_HUMAN	D	583	ENSP00000345972:E583D	ENSP00000345972:E583D	E	-	3	2	C1orf168	56975392	0.507000	0.26146	0.990000	0.47175	0.096000	0.18686	0.102000	0.15272	0.064000	0.16427	-0.343000	0.07986	GAA	C1orf168	-	NULL	ENSG00000187889		0.338	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	-	0	46	0	T	NM_001004303		57202804	-1	tier1	-	no_errors	ENST00000343433	ensembl	human	known	74_37	missense	50.00	16	16	SNP	0.897	G	G	57202804	T	G	57202804	3	3	150	1	0	0	0	0	1	0	0	0	2019	1606	56	4	461	4	C1orf168	1	57202804	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	4858640	57202804	192047817	11	38114											
DDAH1	23576	genome.wustl.edu	37	chr1	85824494	85824494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcatctctactatattgaGctgaagtttttctaatgctt	9	20	5	7	0	3	2	1	2	2	0	4	2	3	2	0	0	3	3	0	0	5	9			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:85824494G>T	ENST00000284031.8	-	2	434	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Missense_Mutation_p.L114I|DDAH1_ENST00000542148.1_Missense_Mutation_p.L14I|DDAH1_ENST00000426972.3_Missense_Mutation_p.L21I|DDAH1_ENST00000535924.2_Missense_Mutation_p.L11I|RP11-131L23.1_ENST00000427819.1_RNA	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	114					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ACTATATTGAGCTGAAGTTTT	0.289																																																	0													128	130	129					1																	85824494		2202	4298	6500	SO:0001583	missense	0			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.340C>A	1.37:g.85824494G>T	ENSP00000284031:p.Leu114Ile		Q5HYC8|Q86XK5	Missense_Mutation	SNP	pfam_Amidino_trans	p.L114I	ENST00000284031.8	37	c.340	CCDS705.1	1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508319	0.64410	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.26	4.35	0.52113	.	0.217591	0.39985	N	0.001220	T	0.43255	0.1239	L	0.52126	1.63	0.50632	D	0.999885	B;B	0.20052	0.002;0.041	B;B	0.41036	0.12;0.346	T	0.38650	-0.9651	9	0.07990	T	0.79	-6.5555	9.8687	0.41160	0.1649:0.0:0.8351:0.0	.	14;114	B4DYP1;O94760	.;DDAH1_HUMAN	I	114;114;11;21;14	.	ENSP00000284031:L114I	L	-	1	0	DDAH1	85597082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.166000	0.58203	1.226000	0.43582	0.563000	0.77884	CTC	DDAH1	-	pfam_Amidino_trans	ENSG00000153904		0.289	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	HGNC	protein_coding	OTTHUMT00000029189.1		0	28	0	G			85824494	-1			no_errors	ENST00000284031	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	85824494	G	T	85824494	3	4	150	1	0	0	0	0	1	0	0	0	4330	971	34	3	537	3	DDAH1	1	85824494	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	28621690	85824494	163426127	12	38115											
CCDC76	54482	genome.wustl.edu	37	chr1	100606480	100606480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctttgttgagtttggagcgGgaaagggaaaattatctcat	11	13	13	4	1	1	1	1	1	1	0	2	4	1	4	0	3	1	3	0	3	4	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:100606480G>A	ENST00000370141.2	+	7	580	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	192					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										GTTTGGAGCGGGAAAGGGAAA	0.348																																																	0													131	127	128					1																	100606480		2203	4300	6503	SO:0001583	missense	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.574G>A	1.37:g.100606480G>A	ENSP00000359160:p.Gly192Arg		Q5VVL0|Q9NW65	Missense_Mutation	SNP	pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.G192R	ENST00000370141.2	37	c.574	CCDS765.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872626	0.91587	.	.	ENSG00000122435	ENST00000370141	D	0.86865	-2.18	5.62	5.62	0.85841	Methyltransferase TRM13 (1);	0.095484	0.64402	D	0.000001	D	0.95149	0.8428	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	D	0.95780	0.8816	10	0.87932	D	0	-15.0065	19.6541	0.95830	0.0:0.0:1.0:0.0	.	178;192	B4DQS9;Q9NUP7	.;TRM13_HUMAN	R	192	ENSP00000359160:G192R	ENSP00000359160:G192R	G	+	1	0	CCDC76	100379068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.756000	0.91651	2.638000	0.89438	0.563000	0.77884	GGA	TRMT13	-	pfam_Methyltransferase_TRM13	ENSG00000122435		0.348	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	HGNC	protein_coding	OTTHUMT00000029919.1	-	0	39	0	G	NM_019083		100606480	1	tier1	-	no_errors	ENST00000370141	ensembl	human	known	74_37	missense	46.81	25	22	SNP	1.000	A	A	100606480	G	A	100606480	3	1	150	1	0	0	0	0	1	0	0	0	2857	1233	43	3	600	3	CCDC76	1	100606480	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	14781986	100606480	148644141	13	38116											
RAP1A	5906	genome.wustl.edu	37	chr1	112233987	112233987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacagatcacatcatgcGtgagtacaagctagtggtcc	13	10	9	9	1	2	2	2	1	0	1	3	2	3	2	1	1	4	2	1	1	5	3	rs375728545		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:112233987G>A	ENST00000369709.3	+	2	184	c.5G>A	c.(4-6)cGt>cAt	p.R2H	RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000356415.1_Missense_Mutation_p.R2H|RAP1A_ENST00000545460.1_Missense_Mutation_p.R2H|RAP1A_ENST00000436150.2_Missense_Mutation_p.R2H	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	2					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|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 vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		CACATCATGCGTGAGTACAAG	0.363																																																	0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	131	118	122		5,5	4.6	1	1		122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RAP1A	NM_002884.2,NM_001010935.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	2/185,2/185	112233987	1,13005	2203	4300	6503	SO:0001583	missense	0			BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.5G>A	1.37:g.112233987G>A	ENSP00000358723:p.Arg2His		P10113	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R2H	ENST00000369709.3	37	c.5	CCDS840.1	1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846055	0.71603	0.0	1.16E-4	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	4.62	4.62	0.57501	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	L	0.52364	1.645	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.61412	-0.7068	10	0.72032	D	0.01	.	16.6054	0.84827	0.0:0.0:1.0:0.0	.	2	P62834	RAP1A_HUMAN	H	2	ENSP00000348786:R2H;ENSP00000396741:R2H;ENSP00000358723:R2H;ENSP00000394318:R2H;ENSP00000443009:R2H	ENSP00000348786:R2H	R	+	2	0	RAP1A	112035510	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.955000	0.93058	2.258000	0.74832	0.455000	0.32223	CGT	RAP1A	-	pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom	ENSG00000116473		0.363	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP1A	HGNC	protein_coding	OTTHUMT00000033071.1	-	0	72	0	G	NM_002884		112233987	1	tier1	-	no_errors	ENST00000356415	ensembl	human	known	74_37	missense	42.86	24	18	SNP	1.000	A	A	112233987	G	A	112233987	3	1	150	1	0	0	0	0	1	0	0	0	13080	1145	40	1	7	1	RAP1A	1	112233987	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	11627507	112233987	137016634	14	38117											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144921977	144921977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gcttctgtatttcaagttggCtgcagaataaagcactctga	11	13	9	8	0	3	2	1	1	2	1	3	2	3	2	0	1	2	6	0	1	5	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:144921977C>T	ENST00000369354.3	-	9	1241	c.1052G>A	c.(1051-1053)aGc>aAc	p.S351N	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S351N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S351N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S417N|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.S138N|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S514N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S488N|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S514N|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S351N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S488N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	351					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)		TTCAAGTTGGCTGCAGAATAA	0.473			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													217	231	226					1																	144921977		2203	4296	6499	SO:0001583	missense	0			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.1052G>A	1.37:g.144921977C>T	ENSP00000358360:p.Ser351Asn		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.S351N	ENST00000369354.3	37	c.1052	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927836	0.73327	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408;ENST00000532801	T;T;T;T;T;T;T;T;T;T;T	0.53857	4.68;4.77;4.75;4.77;4.77;3.78;3.78;2.71;2.71;2.69;0.6	5.82	5.82	0.92795	.	.	.	.	.	T	0.59662	0.2210	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.69078	0.98;0.988;0.983;0.993;0.997	P;P;P;P;D	0.67900	0.718;0.844;0.798;0.86;0.954	T	0.60752	-0.7201	9	0.52906	T	0.07	.	13.2163	0.59863	0.0:0.8404:0.1596:0.0	.	514;351;514;417;351	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	N	417;351;351;514;488;488;351;351;514;514;138;80	ENSP00000327209:S417N;ENSP00000358360:S351N;ENSP00000358363:S351N;ENSP00000435654:S488N;ENSP00000358366:S488N;ENSP00000358357:S351N;ENSP00000358355:S351N;ENSP00000316434:S514N;ENSP00000433392:S514N;ENSP00000436791:S138N;ENSP00000436751:S80N	ENSP00000327209:S417N	S	-	2	0	PDE4DIP	143633334	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.360000	0.44151	2.754000	0.94517	0.650000	0.86243	AGC	PDE4DIP	-	NULL	ENSG00000178104		0.473	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0	112	0	C	NM_022359		144921977	-1	tier1	-	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	144921977	C	T	144921977	3	4	150	1	0	0	0	0	1	0	0	0	11682	797	28	3	6142	3	PDE4DIP	1	144921977	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	32687990	144921977	104328644	15	38118											
PKLR	5313	genome.wustl.edu	37	chr1	155270054	155270054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggccacactggcccgccGcagataccccgctggccctg	5	6	12	18	3	0	1	0	0	0	1	0	1	0	1	6	3	1	2	6	3	1	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:155270054G>A	ENST00000342741.4	-	2	156	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	PKLR_ENST00000392414.3_Missense_Mutation_p.R9W	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	40			R -> W (in PKRD). {ECO:0000269|PubMed:19085939}.		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)	CTGGCCCGCCGCAGATACCCC	0.627																																																	0													17	18	18					1																	155270054		2201	4294	6495	SO:0001583	missense	0			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.118C>T	1.37:g.155270054G>A	ENSP00000339933:p.Arg40Trp		O75758|P11973	Missense_Mutation	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.R40W	ENST00000342741.4	37	c.118	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476230	0.44044	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741	D;D	0.99748	-6.52;-6.62	4.61	-4.62	0.03370	.	0.236433	0.35151	N	0.003415	D	0.98289	0.9433	L	0.36672	1.1	0.09310	N	1	D;D	0.89917	1.0;0.999	P;P	0.56434	0.798;0.798	D	0.98310	1.0523	10	0.87932	D	0	-6.9573	10.5989	0.45354	0.0:0.1154:0.214:0.6705	.	40;31	P30613;B1AVT1	KPYR_HUMAN;.	W	65;9;40	ENSP00000376214:R9W;ENSP00000339933:R40W	ENSP00000339933:R40W	R	-	1	2	PKLR	153536678	0.031000	0.19500	0.120000	0.21714	0.418000	0.31294	0.695000	0.25527	-1.226000	0.02574	-0.302000	0.09304	CGG	PKLR	-	NULL	ENSG00000143627		0.627	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2		0	24	0	G	NM_000298		155270054	-1			no_errors	ENST00000342741	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.009	A	A	155270054	G	A	155270054	3	1	150	1	0	0	0	0	1	0	0	0	12015	1086	38	1	1646	1	PKLR	1	155270054	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	10348077	155270054	93980567	16	38119											
KIAA0907	22889	genome.wustl.edu	37	chr1	155891383	155891383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggataatatggtggttgaGgagggacactacttatagca	13	11	13	4	0	0	1	0	1	0	0	0	4	0	4	0	5	2	2	0	5	5	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:155891383G>T	ENST00000368321.3	-	10	1072	c.1049C>A	c.(1048-1050)cCt>cAt	p.P350H	KIAA0907_ENST00000482337.1_Intron|SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.P350H|KIAA0907_ENST00000368319.3_Intron	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	350	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGGTGGTTGAGGAGGGACACT	0.458																																																	0													122	120	121					1																	155891383		2203	4300	6503	SO:0001583	missense	0			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1049C>A	1.37:g.155891383G>T	ENSP00000357304:p.Pro350His		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	NULL	p.P350H	ENST00000368321.3	37	c.1049	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022397	0.54683	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	.	.	.	5.62	5.62	0.85841	.	0.053778	0.85682	D	0.000000	T	0.30198	0.0757	N	0.19112	0.55	0.80722	D	1	P;P	0.52842	0.956;0.956	P;P	0.49953	0.627;0.627	T	0.05937	-1.0855	9	0.15066	T	0.55	-9.5808	12.5878	0.56426	0.0765:0.0:0.9235:0.0	.	350;350	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	H	350	.	ENSP00000357303:P350H	P	-	2	0	KIAA0907	154158007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.070000	0.76763	2.644000	0.89710	0.491000	0.48974	CCT	KIAA0907	-	NULL	ENSG00000132680		0.458	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	-	0	41	0	G	NM_014949		155891383	-1	tier1	-	no_errors	ENST00000368321	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	155891383	G	T	155891383	3	4	150	1	0	0	0	0	1	0	0	0	8226	1000	35	3	815	3	KIAA0907	1	155891383	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	621329	155891383	93359238	17	38120											
HMCN1	83872	genome.wustl.edu	37	chr1	186115011	186115011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtggccgtccctgtcccgGagacactactcaggtgacca	8	7	12	14	2	1	2	1	1	0	1	3	3	3	2	4	4	1	0	4	4	1	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:186115011G>A	ENST00000271588.4	+	93	14793	c.14564G>A	c.(14563-14565)gGa>gAa	p.G4855E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4855E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4855	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCTGTCCCGGAGACACTACT	0.522																																																	0													77	64	69					1																	186115011		2203	4300	6503	SO:0001583	missense	0			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.14564G>A	1.37:g.186115011G>A	ENSP00000271588:p.Gly4855Glu		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.G4855E	ENST00000271588.4	37	c.14564	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677664	0.88445	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.54866	0.55;0.55	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83412	0.0028	10	0.87932	D	0	.	19.392	0.94587	0.0:0.0:1.0:0.0	.	4855	Q96RW7	HMCN1_HUMAN	E	4855	ENSP00000271588:G4855E;ENSP00000356462:G4855E	ENSP00000271588:G4855E	G	+	2	0	HMCN1	184381634	1.000000	0.71417	0.952000	0.39060	0.500000	0.33767	9.156000	0.94705	2.580000	0.87095	0.591000	0.81541	GGA	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143341		0.522	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	43	0	G	NM_031935		186115011	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	52.00	24	26	SNP	1.000	A	A	186115011	G	A	186115011	3	1	150	1	0	0	0	0	1	0	0	0	7247	1174	41	3	14934	3	HMCN1	1	186115011	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	30223628	186115011	63135610	18	38121											
ACTN2	88	genome.wustl.edu	37	chr1	236911004	236911004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgctgtgaatgtcaatgatCggtgccagaaaatttgtgac	12	11	11	7	2	1	4	1	3	0	1	2	4	1	4	1	1	1	1	1	1	4	1	rs199604590		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:236911004C>T	ENST00000366578.4	+	13	1610	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	ACTN2_ENST00000542672.1_Missense_Mutation_p.R482W|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	482					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGTCAATGATCGGTGCCAGAA	0.423																																																	0													51	53	52					1																	236911004		2203	4300	6503	SO:0001583	missense	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1444C>T	1.37:g.236911004C>T	ENSP00000355537:p.Arg482Trp		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R482W	ENST00000366578.4	37	c.1444	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831684	0.71258	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.56444	0.46;0.46	5.73	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.80507	0.4636	H	0.95043	3.615	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.83275	0.965;0.913;0.976;0.996	D	0.86817	0.2002	10	0.87932	D	0	.	15.0552	0.71908	0.3336:0.6664:0.0:0.0	.	267;482;252;482	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	W	482;482;251	ENSP00000443495:R482W;ENSP00000355537:R482W	ENSP00000355537:R482W	R	+	1	2	ACTN2	234977627	0.912000	0.30974	0.845000	0.33349	0.820000	0.46376	1.930000	0.40124	1.508000	0.48769	0.655000	0.94253	CGG	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.423	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	-	0	45	0	C	NM_001103		236911004	1	tier1	rs199604590	no_errors	ENST00000366578	ensembl	human	known	74_37	missense	61.36	17	27	SNP	0.996	T	T	236911004	C	T	236911004	3	4	150	1	0	0	0	0	1	0	0	0	205	875	31	1	1494	1	ACTN2	1	236911004	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	50795993	236911004	12339617	19	38122											
MTR	4548	genome.wustl.edu	37	chr1	237025632	237025632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagtgcttaacggcacaGtagaagaagaggcaagtcat	15	6	12	8	1	1	4	1	0	0	4	1	4	1	4	1	2	2	4	1	2	5	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:237025632G>A	ENST00000366577.5	+	21	2687	c.2293G>A	c.(2293-2295)Gta>Ata	p.V765I	MTR_ENST00000535889.1_Missense_Mutation_p.V714I	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	765					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)	TAACGGCACAGTAGAAGAAGA	0.488																																																	0													117	119	118					1																	237025632		2203	4300	6503	SO:0001583	missense	0			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.2293G>A	1.37:g.237025632G>A	ENSP00000355536:p.Val765Ile		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.V765I	ENST00000366577.5	37	c.2293	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	G	8.441	0.850862	0.17034	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;D	0.83075	-0.31;-0.3;-1.68	5.23	-1.5	0.08691	.	0.984500	0.08309	N	0.965693	T	0.74935	0.3782	M	0.62723	1.935	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.56691	-0.7937	10	0.33141	T	0.24	-1.2282	1.7186	0.02907	0.3861:0.0977:0.3175:0.1987	.	765;714;765	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	I	619;765;714;319	ENSP00000355536:V765I;ENSP00000441845:V714I;ENSP00000355535:V319I	ENSP00000355535:V319I	V	+	1	0	MTR	235092255	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.135000	0.10420	-0.458000	0.07023	-0.961000	0.02630	GTA	MTR	-	pirsf_MetH,tigrfam_MetH	ENSG00000116984		0.488	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0	84	0	G	NM_000254		237025632	1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	A	A	237025632	G	A	237025632	3	1	150	1	0	0	0	0	1	0	0	0	9996	1029	36	3	2375	3	MTR	1	237025632	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	114628	237025632	12224989	20	38123											
MTR	4548	genome.wustl.edu	37	chr1	237026804	237026804	+	Silent	SNP	C	C	T	0	0	0	1	1	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	actgttaaaggcgacgtgcaCgacataggcaagaacatagt	15	7	11	8	3	0	1	0	0	0	1	0	3	0	1	0	2	2	3	0	2	6	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:237026804C>T	ENST00000366577.5	+	22	2749	c.2355C>T	c.(2353-2355)caC>caT	p.H785H	MTR_ENST00000535889.1_Silent_p.H734H	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	785	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				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)	GCGACGTGCACGACATAGGCA	0.488																																																	0													128	97	108					1																	237026804		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2355C>T	1.37:g.237026804C>T			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.H785	ENST00000366577.5	37	c.2355	CCDS1614.1	1																																																																																			MTR	-	pfam_Cobalamin-bd,superfamily_Cobalamin-bd,pirsf_MetH,tigrfam_MetH	ENSG00000116984		0.488	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2		0	85	0	C	NM_000254		237026804	1			no_errors	ENST00000366577	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.111	T	T	237026804	C	T	237026804	2	4	150	1	0	0	0	0	0	0	0	1	9996	535	19	1		1	MTR	1	237026804	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	1172	237026804	12223817	21	38124											
OR2C3	81472	genome.wustl.edu	37	chr1	247695139	247695139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgacctgatcttcaacacGgcccgggcaatgtggccgta	8	8	12	13	3	2	2	1	2	1	0	2	2	2	2	3	3	1	3	3	3	3	2	rs149975458		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:247695139G>A	ENST00000366487.3	-	2	1036	c.675C>T	c.(673-675)gcC>gcT	p.A225A	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	225						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)			TCTTCAACACGGCCCGGGCAA	0.537																																																	0								G		0,4406		0,0,2203	98	94	95		675	-1.4	0.2	1	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2C3	NM_198074.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		225/321	247695139	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.675C>T	1.37:g.247695139G>A			Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A225	ENST00000366487.3	37	c.675	CCDS1634.2	1																																																																																			OR2C3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196242		0.537	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	HGNC	protein_coding	OTTHUMT00000097626.2	-	0	40	0	G	NM_198074		247695139	-1	tier1	rs149975458	no_errors	ENST00000366487	ensembl	human	known	74_37	silent	27.03	27	10	SNP	0.347	A	A	247695139	G	A	247695139	2	1	150	1	0	0	0	0	0	0	0	1	11032	1103	39	1		1	OR2C3	1	247695139	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	10668335	247695139	1555482	22	38125											
OR2T8	343172	genome.wustl.edu	37	chr1	248084898	248084898	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgctgacacttcagtcttCgaaaacgccatgtacatctg	10	12	8	11	2	3	1	1	1	2	0	4	2	3	1	1	0	3	2	1	0	3	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:248084898C>T	ENST00000319968.4	+	1	579	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F193F(1)		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)			CTTCAGTCTTCGAAAACGCCA	0.537																																																	1	Substitution - coding silent(1)	lung(1)											5	3	4					1																	248084898		1775	3446	5221	SO:0001819	synonymous_variant	0				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.579C>T	1.37:g.248084898C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F193	ENST00000319968.4	37	c.579	CCDS31100.1	1																																																																																			OR2T8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177462		0.537	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	HGNC	protein_coding	OTTHUMT00000096862.1	-	0	29	0	C	NM_001005522		248084898	1	tier1	-	no_errors	ENST00000319968	ensembl	human	known	74_37	silent	15.62	27	5	SNP	0.000	T	T	248084898	C	T	248084898	2	4	150	1	0	0	0	0	0	0	0	1	11069	883	31	1		1	OR2T8	1	248084898	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	389759	248084898	1165723	23	38126											
OR2T33	391195	genome.wustl.edu	37	chr1	248436538	248436538	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatgtacatggcgttttcGaagactgaagtgtcagcaca	12	10	11	8	2	1	3	1	1	0	2	2	4	1	3	0	1	2	3	0	1	3	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:248436538G>A	ENST00000318021.2	-	1	600	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	193						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)			TGGCGTTTTCGAAGACTGAAG	0.527																																																	0													24	27	26					1																	248436538		2193	4274	6467	SO:0001819	synonymous_variant	0				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.579C>T	1.37:g.248436538G>A			B2RNN0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F193	ENST00000318021.2	37	c.579	CCDS31109.1	1																																																																																			OR2T33	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177212		0.527	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	-	0	36	0	G	NM_001004695		248436538	-1	tier1	-	no_errors	ENST00000318021	ensembl	human	known	74_37	silent	24.14	44	14	SNP	0.000	A	A	248436538	G	A	248436538	2	1	150	1	0	0	0	0	0	0	0	1	11063	1049	37	1		1	OR2T33	1	248436538	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	351640	248436538	814083	24	38127											
RAD51AP2	729475	genome.wustl.edu	37	chr2	17699667	17699667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcggccatccgcggcgtggGctgagggagagacatgacag	8	5	17	11	4	0	3	0	2	0	1	2	5	1	4	2	4	0	1	2	4	0	0	rs192386910		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:17699667G>A	ENST00000399080.2	-	1	39	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	6										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)					CGCGGCGTGGGCTGAGGGAGA	0.617																																																	0													63	69	67					2																	17699667		1966	4154	6120	SO:0001583	missense	0			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.16C>T	2.37:g.17699667G>A	ENSP00000382030:p.Pro6Ser			Missense_Mutation	SNP	NULL	p.P6S	ENST00000399080.2	37	c.16	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	G	3.146	-0.175259	0.06421	.	.	ENSG00000214842	ENST00000399080	T	0.29917	1.55	3.58	1.75	0.24633	.	.	.	.	.	T	0.14485	0.0350	N	0.14661	0.345	0.09310	N	1	P	0.42518	0.782	B	0.40534	0.332	T	0.09751	-1.0660	9	0.10636	T	0.68	4.8569	4.9962	0.14240	0.1193:0.2165:0.6642:0.0	.	6	Q09MP3	R51A2_HUMAN	S	6	ENSP00000382030:P6S	ENSP00000382030:P6S	P	-	1	0	RAD51AP2	17563148	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.704000	0.25661	0.505000	0.28104	0.591000	0.81541	CCC	RAD51AP2	-	NULL	ENSG00000214842		0.617	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	HGNC	protein_coding	OTTHUMT00000323801.3		0	73	0	G	NM_001099218		17699667	-1			no_errors	ENST00000399080	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	A	A	17699667	G	A	17699667	3	1	150	1	0	0	0	0	1	0	0	0	13032	1203	42	3	3475	3	RAD51AP2	2	17699667	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09		17699667	225499706	25	38128											
CAPN13	92291	genome.wustl.edu	37	chr2	30954231	30954231	+	Silent	SNP	T	T	A	0	1	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	tccatttctgtcaggtagagTccttttccatccttagagag	8	15	8	10	0	2	2	1	0	1	2	6	3	6	2	4	1	0	1	4	1	2	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:30954231T>A	ENST00000295055.8	-	21	2138	c.1962A>T	c.(1960-1962)ggA>ggT	p.G654G	CAPN13_ENST00000534090.2_Silent_p.G654G	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	654	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)					TCAGGTAGAGTCCTTTTCCAT	0.547																																																	0													61	59	60					2																	30954231		1924	4122	6046	SO:0001819	synonymous_variant	0				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.1962A>T	2.37:g.30954231T>A			Q17RF0|Q580X1|Q8TE80	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.G654	ENST00000295055.8	37	c.1962	CCDS46252.1	2																																																																																			CAPN13	-	NULL	ENSG00000162949		0.547	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	-	0	47	0	T	NM_144575		30954231	-1	tier1	-	no_errors	ENST00000295055	ensembl	human	known	74_37	silent	29.17	34	14	SNP	0.936	A	A	30954231	T	A	30954231	2	1	150	1	0	0	0	0	0	0	0	1	2633	1654	58	5		5	CAPN13	2	30954231	Silent	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	13254564	30954231	212245142	26	38129											
NRXN1	9378	genome.wustl.edu	37	chr2	50463983	50463983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtccactcgcaccaataCggcttctttctgaacagtgc	9	11	7	14	2	2	1	0	1	2	0	4	1	3	1	2	1	3	2	2	1	3	3	rs201881725		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:50463983C>T	ENST00000406316.2	-	18	4966	c.3490G>A	c.(3490-3492)Gta>Ata	p.V1164I	NRXN1_ENST00000406859.3_Missense_Mutation_p.V1164I|NRXN1_ENST00000401710.1_Missense_Mutation_p.V182I|NRXN1_ENST00000401669.2_Missense_Mutation_p.V1164I|NRXN1_ENST00000405472.3_Missense_Mutation_p.V1156I|NRXN1_ENST00000402717.3_Missense_Mutation_p.V1156I|NRXN1_ENST00000404971.1_Missense_Mutation_p.V1204I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000342183.5_Missense_Mutation_p.V129I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1164	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)			CGCACCAATACGGCTTCTTTC	0.443																																																	0								C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	118	106	110		385,3490,3610	4.8	0.2	2		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NRXN1	NM_138735.2,NM_004801.4,NM_001135659.1	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	129/443,1164/1478,1204/1548	50463983	1,13005	2203	4300	6503	SO:0001583	missense	0			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.3490G>A	2.37:g.50463983C>T	ENSP00000384311:p.Val1164Ile		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.V1156I	ENST00000406316.2	37	c.3466	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	7.445	0.641410	0.14451	0.0	1.16E-4	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.80738	-1.28;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.68	4.8	0.61643	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.104388	0.37483	U	0.002066	T	0.64505	0.2604	N	0.12182	0.205	0.31958	N	0.608806	B;B;B;B	0.27286	0.056;0.174;0.024;0.04	B;B;B;B	0.20384	0.005;0.015;0.007;0.029	T	0.64437	-0.6408	10	0.23302	T	0.38	.	14.4042	0.67071	0.0:0.9294:0.0:0.0706	.	1204;129;1164;1156	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	I	129;83;182;1204;1164;1156;1164;1205;1156;1164	ENSP00000341184:V129I;ENSP00000385580:V182I;ENSP00000385142:V1204I;ENSP00000384311:V1164I;ENSP00000434015:V1156I;ENSP00000385017:V1164I;ENSP00000385434:V1156I;ENSP00000385681:V1164I	ENSP00000341184:V129I	V	-	1	0	NRXN1	50317487	0.804000	0.28969	0.181000	0.23098	0.266000	0.26442	1.623000	0.37008	1.403000	0.46800	0.650000	0.86243	GTA	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.443	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0	60	0	C			50463983	-1	tier1	rs201881725	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	40.00	30	20	SNP	0.867	T	T	50463983	C	T	50463983	3	4	150	1	0	0	0	0	1	0	0	0	10704	536	19	1	1057	1	NRXN1	2	50463983	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	19509752	50463983	192735390	27	38130											
CHAC2	494143	genome.wustl.edu	37	chr2	54001511	54001511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaacaaatttttaatgcagCtggtccaagtggaagaaata	16	11	9	5	0	0	2	0	1	0	1	1	3	1	3	1	2	3	2	1	2	7	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:54001511C>T	ENST00000295304.4	+	3	499	c.404C>T	c.(403-405)gCt>gTt	p.A135V	GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000263634.3_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	135										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTTAATGCAGCTGGTCCAAGT	0.373																																																	0													103	101	102					2																	54001511		2203	4300	6503	SO:0001583	missense	0			BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"gamma-GCT acting on glutathione homolog 2"		"ChaC, cation transport regulator-like 2 (E. coli)"			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.404C>T	2.37:g.54001511C>T	ENSP00000295304:p.Ala135Val		Q8WVI8	Missense_Mutation	SNP	pfam_ChaC	p.A135V	ENST00000295304.4	37	c.404	CCDS33196.1	2	.	.	.	.	.	.	.	.	.	.	C	9.373	1.070946	0.20147	.	.	ENSG00000143942	ENST00000295304	T	0.42131	0.98	5.92	1.11	0.20524	Butirosin biosynthesis, BtrG-like (1);	0.440230	0.27193	N	0.020487	T	0.12860	0.0312	N	0.01410	-0.885	0.28939	N	0.891079	B	0.02656	0.0	B	0.04013	0.001	T	0.31251	-0.9950	10	0.08179	T	0.78	-3.2548	9.9206	0.41462	0.0:0.5021:0.0:0.4979	.	135	Q8WUX2	CHAC2_HUMAN	V	135	ENSP00000295304:A135V	ENSP00000295304:A135V	A	+	2	0	CHAC2	53855015	0.935000	0.31712	1.000000	0.80357	0.994000	0.84299	0.805000	0.27112	0.423000	0.26033	-0.136000	0.14681	GCT	CHAC2	-	pfam_ChaC	ENSG00000143942		0.373	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAC2	HGNC	protein_coding	OTTHUMT00000324072.1	-	0	56	0	C	NM_001008708		54001511	1	tier1	-	no_errors	ENST00000295304	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.964	T	T	54001511	C	T	54001511	3	4	150	1	0	0	0	0	1	0	0	0	3316	797	28	3	414	3	CHAC2	2	54001511	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	3537528	54001511	189197862	28	38131											
ARHGAP25	9938	genome.wustl.edu	37	chr2	69046254	69046254	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttttcttctgtctttcaGggactcctcagatccaaaga	8	16	6	11	0	6	2	2	0	4	2	8	3	8	3	2	1	0	0	2	1	1	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:69046254G>T	ENST00000295381.3	+	9	1419		c.e9-1		ARHGAP25_ENST00000467265.1_Splice_Site|ARHGAP25_ENST00000497079.1_Splice_Site|ARHGAP25_ENST00000409030.3_Splice_Site|ARHGAP25_ENST00000479844.1_Splice_Site|ARHGAP25_ENST00000409220.1_Splice_Site|ARHGAP25_ENST00000409202.3_Splice_Site	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTGTCTTTCAGGGACTCCTCA	0.493																																																	0													171	188	182					2																	69046254		2203	4300	6503	SO:0001630	splice_region_variant	0			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1001-1G>T	2.37:g.69046254G>T			A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Splice_Site	SNP	-	e9-1	ENST00000295381.3	37	c.1004-1		2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064805	0.76187	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000497259;ENST00000479844	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.762	0.88467	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP25	68899758	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.871000	0.92346	2.737000	0.93849	0.563000	0.77884	.	ARHGAP25	-	-	ENSG00000163219		0.493	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP25	HGNC	protein_coding		-	0	66	0	G	NM_014882	Intron	69046254	1	tier1	-	no_errors	ENST00000409202	ensembl	human	known	74_37	splice_site	6.35	59	4	SNP	1.000	T	T	69046254	G	T	69046254	5	4	150	1	0	0	0	0	0	0	1	0	874	1014	35	3	1077	3	ARHGAP25	2	69046254	Splice_Site	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	15044743	69046254	174153119	29	38132											
MRPS5	64969	genome.wustl.edu	37	chr2	95780886	95780886	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaatacagcattgtgtctGcagtgcacggctcaagctgg	11	9	12	9	1	2	1	1	0	1	1	2	1	2	1	0	2	5	5	0	2	3	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:95780886G>A	ENST00000272418.2	-	3	410	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	MRPS5_ENST00000475040.1_5'UTR	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	68					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CATTGTGTCTGCAGTGCACGG	0.463											OREG0014795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													166	149	155					2																	95780886		2203	4300	6503	SO:0001587	stop_gained	0			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.202C>T	2.37:g.95780886G>A	ENSP00000272418:p.Gln68*	1315	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Nonsense_Mutation	SNP	pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N	p.Q68*	ENST00000272418.2	37	c.202	CCDS2010.1	2	.	.	.	.	.	.	.	.	.	.	G	7.121	0.578010	0.13686	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.08	5.08	0.68730	.	0.065803	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.1657	14.1533	0.65401	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000272418:Q68X	Q	-	1	0	MRPS5	95144613	1.000000	0.71417	0.947000	0.38551	0.027000	0.11550	4.987000	0.63857	2.786000	0.95864	0.563000	0.77884	CAG	MRPS5	-	NULL	ENSG00000144029		0.463	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS5	HGNC	protein_coding	OTTHUMT00000252772.1	-	0	42	0	G	NM_031902		95780886	-1	tier1	-	no_errors	ENST00000272418	ensembl	human	known	74_37	nonsense	6.06	61	4	SNP	0.971	A	A	95780886	G	A	95780886	4	1	150	1	0	0	0	0	0	1	0	0	9884	1328	46	3	1130	3	MRPS5	2	95780886	Nonsense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	26734632	95780886	147418487	30	38133											
SNRNP200	23020	genome.wustl.edu	37	chr2	96947598	96947598	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtatccatgatgattaccaGgtgggcagccacgttcatgc	9	10	12	10	1	1	2	1	2	0	0	2	2	2	2	3	3	3	3	3	3	2	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:96947598G>A	ENST00000323853.5	-	35	5055	c.4978C>T	c.(4978-4980)Ctg>Ttg	p.L1660L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1660	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						ATGATTACCAGGTGGGCAGCC	0.552																																																	0													103	92	96					2																	96947598		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4978C>T	2.37:g.96947598G>A			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1660	ENST00000323853.5	37	c.4978	CCDS2020.1	2																																																																																			SNRNP200	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000144028		0.552	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	-	0	43	0	G	NM_014014		96947598	-1	tier1	-	no_errors	ENST00000323853	ensembl	human	known	74_37	silent	25.45	41	14	SNP	1.000	A	A	96947598	G	A	96947598	2	1	150	1	0	0	0	0	0	0	0	1	14897	991	35	3		3	SNRNP200	2	96947598	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	1166712	96947598	146251775	31	38134											
CHST10	9486	genome.wustl.edu	37	chr2	101014407	101014407	+	Silent	SNP	G	G	T	0	0	1	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	actttcttccactgggtgttGcccactttgggagtctggca	5	14	11	11	0	2	0	0	0	2	0	3	1	3	1	2	3	1	2	2	3	0	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:101014407G>T	ENST00000264249.3	-	5	775	c.390C>A	c.(388-390)ggC>ggA	p.G130G	CHST10_ENST00000542617.1_Silent_p.G178G|CHST10_ENST00000409701.1_Silent_p.G130G	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	130					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ACTGGGTGTTGCCCACTTTGG	0.502																																																	0													138	129	132					2																	101014407		2203	4300	6503	SO:0001819	synonymous_variant	0			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.390C>A	2.37:g.101014407G>T			Q53T18	Silent	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.G178	ENST00000264249.3	37	c.534	CCDS2047.1	2																																																																																			CHST10	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000115526		0.502	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	HGNC	protein_coding	OTTHUMT00000253162.1	-	0	51	0	G	NM_004854		101014407	-1	tier1	-	no_errors	ENST00000542617	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	T	T	101014407	G	T	101014407	2	4	150	1	0	0	0	0	0	0	0	1	3405	1306	46	3		3	CHST10	2	101014407	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	4066809	101014407	142184966	32	38135											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125521620	125521620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactttcctaccttccatgCggaattcagtgccgatattt	8	14	6	13	2	1	0	1	0	0	0	3	2	3	1	5	1	3	0	5	1	3	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:125521620C>T	ENST00000431078.1	+	16	2790	c.2426C>T	c.(2425-2427)gCg>gTg	p.A809V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	809	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCTTCCATGCGGAATTCAGT	0.403																																																	0													140	130	133					2																	125521620		1833	4092	5925	SO:0001583	missense	0			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.2426C>T	2.37:g.125521620C>T	ENSP00000399013:p.Ala809Val		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.A809V	ENST00000431078.1	37	c.2426	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214939	0.58452	.	.	ENSG00000155052	ENST00000431078	T	0.52983	0.64	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.264897	0.26000	N	0.026951	T	0.41419	0.1158	L	0.31420	0.93	0.49389	D	0.999781	B	0.11235	0.004	B	0.06405	0.002	T	0.13308	-1.0514	10	0.49607	T	0.09	.	19.2581	0.93955	0.0:1.0:0.0:0.0	.	809	Q8WYK1	CNTP5_HUMAN	V	809	ENSP00000399013:A809V	ENSP00000399013:A809V	A	+	2	0	CNTNAP5	125238090	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.250000	0.51445	2.804000	0.96469	0.655000	0.94253	GCG	CNTNAP5	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000155052		0.403	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	75	0	C			125521620	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	34.69	32	17	SNP	0.991	T	T	125521620	C	T	125521620	3	4	150	1	0	0	0	0	1	0	0	0	3657	768	27	1	2488	1	CNTNAP5	2	125521620	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	24507213	125521620	117677753	33	38136											
LY75	4065	genome.wustl.edu	37	chr2	160735803	160735803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcttatcagaacttgcGtcattcagtttttctccctt	8	17	4	12	1	5	1	3	0	2	1	6	1	5	1	1	0	2	1	1	0	2	6	rs141523249		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:160735803G>A	ENST00000263636.4	-	9	1509	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	LY75-CD302_ENST00000505052.1_Silent_p.D494D|LY75_ENST00000554112.1_Silent_p.D494D|LY75-CD302_ENST00000504764.1_Silent_p.D494D|LY75_ENST00000553424.1_Silent_p.D494D	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	494	C-type lectin 3. {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)		CAGAACTTGCGTCATTCAGTT	0.373																																																	0								G	,,	0,4406		0,0,2203	248	228	235		1482,1482,1482	-0.6	0.1	2	dbSNP_134	235	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	494/1874,494/1818,494/1723	160735803	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1482C>T	2.37:g.160735803G>A			O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.D494	ENST00000263636.4	37	c.1482	CCDS2211.1	2																																																																																			LY75	-	NULL	ENSG00000054219		0.373	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	-	0	42	0	G			160735803	-1	tier1	rs141523249	no_errors	ENST00000554112	ensembl	human	known	74_37	silent	24.53	40	13	SNP	0.024	A	A	160735803	G	A	160735803	2	1	150	1	0	0	0	0	0	0	0	1	9135	1136	40	1		1	LY75	2	160735803	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	35214183	160735803	82463570	34	38137											
SCN7A	6332	genome.wustl.edu	37	chr2	167334126	167334126	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatggtcttcattatgtgtTttagcaatatgctgttttat	8	21	7	5	0	3	0	2	0	1	0	3	0	3	0	0	1	2	4	0	1	5	7			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:167334126T>A	ENST00000409855.1	-	2	207	c.81A>T	c.(79-81)aaA>aaT	p.K27N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	27					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CATTATGTGTTTTAGCAATAT	0.368																																																	0													65	60	61					2																	167334126		1820	4076	5896	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.81A>T	2.37:g.167334126T>A	ENSP00000386796:p.Lys27Asn			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.K27N	ENST00000409855.1	37	c.81	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066807	0.36470	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98313	-4.22;-4.24;-4.86	4.63	0.746	0.18365	.	0.210688	0.33309	N	0.005045	D	0.97688	0.9242	M	0.64404	1.975	0.19575	N	0.999969	D	0.76494	0.999	D	0.78314	0.991	D	0.92135	0.5715	10	0.87932	D	0	.	1.5338	0.02541	0.1394:0.1726:0.1433:0.5447	.	27	Q01118	SCN7A_HUMAN	N	27	ENSP00000386796:K27N;ENSP00000413699:K27N;ENSP00000403846:K27N	ENSP00000259060:K27N	K	-	3	2	SCN7A	167042372	0.583000	0.26757	0.865000	0.33974	0.230000	0.25150	0.081000	0.14823	0.386000	0.24997	-0.250000	0.11733	AAA	SCN7A	-	NULL	ENSG00000136546		0.368	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1		0	43	0	T			167334126	-1			no_errors	ENST00000409855	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.103	A	A	167334126	T	A	167334126	3	1	150	1	0	0	0	0	1	0	0	0	13968	1838	64	5	5063	5	SCN7A	2	167334126	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	6598323	167334126	75865247	35	38138											
RAPGEF4	11069	genome.wustl.edu	37	chr2	173885435	173885435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcccgcgagagcaattcGattcactggtaggtgtggat	8	11	13	9	3	1	1	1	0	0	1	2	4	1	2	1	3	2	2	1	3	2	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:173885435G>A	ENST00000397081.3	+	23	2388	c.2245G>A	c.(2245-2247)Gat>Aat	p.D749N	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.D596N|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.D578N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.D605N|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.D748N|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.D749N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.D529N|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.D596N	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	749					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AGAGCAATTCGATTCACTGGT	0.463																																																	0													150	137	141					2																	173885435		1899	4123	6022	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2245G>A	2.37:g.173885435G>A	ENSP00000380271:p.Asp749Asn		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.D749N	ENST00000397081.3	37	c.2245	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673221	0.67928	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.67171	0.04;0.04;-0.25;-0.07;-0.06;0.05;0.05;-0.15	5.77	5.77	0.91146	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.68970	0.3059	M	0.69823	2.125	0.80722	D	1	B;B	0.27286	0.174;0.118	B;B	0.23852	0.046;0.049	T	0.66760	-0.5842	10	0.51188	T	0.08	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	605;749	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	N	748;749;749;605;578;596;596;529	ENSP00000264111:D748N;ENSP00000380271:D749N;ENSP00000387104:D749N;ENSP00000380276:D605N;ENSP00000440135:D578N;ENSP00000440250:D596N;ENSP00000437384:D596N;ENSP00000438011:D529N	ENSP00000264111:D748N	D	+	1	0	RAPGEF4	173593681	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.632000	0.83247	2.723000	0.93209	0.655000	0.94253	GAT	RAPGEF4	-	superfamily_Ras_GEF_dom	ENSG00000091428		0.463	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	-	0	43	0	G	NM_007023		173885435	1	tier1	-	no_errors	ENST00000397081	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	A	A	173885435	G	A	173885435	3	1	150	1	0	0	0	0	1	0	0	0	13091	1058	37	1	2351	1	RAPGEF4	2	173885435	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	6551309	173885435	69313938	36	38139											
SSFA2	6744	genome.wustl.edu	37	chr2	182780039	182780039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaccttgccacaccaacaGcacaagaccagccttatttt	14	8	5	14	0	0	2	0	0	0	2	0	2	0	2	5	0	4	1	5	0	4	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:182780039G>A	ENST00000431877.2	+	11	1851	c.1672G>A	c.(1672-1674)Gca>Aca	p.A558T	SSFA2_ENST00000409136.1_Missense_Mutation_p.A67T|SSFA2_ENST00000409001.1_Missense_Mutation_p.A558T|SSFA2_ENST00000320370.7_Missense_Mutation_p.A558T|SSFA2_ENST00000428267.2_Missense_Mutation_p.A405T	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	558						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)			CACACCAACAGCACAAGACCA	0.478																																																	0													92	83	86					2																	182780039		2203	4300	6503	SO:0001583	missense	0			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.1672G>A	2.37:g.182780039G>A	ENSP00000388731:p.Ala558Thr		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.A558T	ENST00000431877.2	37	c.1672	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871806	0.51695	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.22743	2.22;1.98;2.2;2.22;1.94	5.81	4.93	0.64822	.	0.173016	0.50627	D	0.000112	T	0.25754	0.0627	M	0.71581	2.175	0.35050	D	0.760566	B;B;B;B;B	0.27351	0.176;0.103;0.026;0.015;0.061	B;B;B;B;B	0.19391	0.025;0.025;0.025;0.025;0.025	T	0.28396	-1.0045	10	0.44086	T	0.13	-1.3283	14.6673	0.68918	0.0693:0.0:0.9307:0.0	.	405;67;558;558;558	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	T	558;558;558;405;67	ENSP00000388731:A558T;ENSP00000314669:A558T;ENSP00000387319:A558T;ENSP00000409867:A405T;ENSP00000386916:A67T	ENSP00000314669:A558T	A	+	1	0	SSFA2	182488284	0.129000	0.22400	0.681000	0.30009	0.857000	0.48899	2.288000	0.43514	1.468000	0.48064	0.555000	0.69702	GCA	SSFA2	-	NULL	ENSG00000138434		0.478	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	-	0	44	0	G	NM_006751		182780039	1	tier1	-	no_errors	ENST00000431877	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.353	A	A	182780039	G	A	182780039	3	1	150	1	0	0	0	0	1	0	0	0	15230	971	34	3	1714	3	SSFA2	2	182780039	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	8894604	182780039	60419334	37	38140											
MSTN	2660	genome.wustl.edu	37	chr2	190927070	190927070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatcagttcccggagtggagGagctttgggtaaaagttgtc	10	11	14	6	1	1	0	1	0	0	0	3	3	2	3	1	4	1	4	1	4	3	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:190927070G>A	ENST00000260950.4	-	1	385	c.253C>T	c.(253-255)Cct>Tct	p.P85S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	85					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)			CGGAGTGGAGGAGCTTTGGGT	0.423																																																	0													143	131	135					2																	190927070		2203	4300	6503	SO:0001583	missense	0			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.253C>T	2.37:g.190927070G>A	ENSP00000260950:p.Pro85Ser		A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.P85S	ENST00000260950.4	37	c.253	CCDS2303.1	2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610525	0.87258	.	.	ENSG00000138379	ENST00000260950	T	0.67171	-0.25	5.34	5.34	0.76211	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82976	0.5154	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84472	0.0600	10	0.87932	D	0	-10.212	19.238	0.93869	0.0:0.0:1.0:0.0	.	85	O14793	GDF8_HUMAN	S	85	ENSP00000260950:P85S	ENSP00000260950:P85S	P	-	1	0	MSTN	190635315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.785000	0.95823	0.650000	0.86243	CCT	MSTN	-	pfam_TGF-b_N	ENSG00000138379		0.423	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	HGNC	protein_coding	OTTHUMT00000255917.2	-	0	64	0	G	NM_005259		190927070	-1	tier1	-	no_errors	ENST00000260950	ensembl	human	known	74_37	missense	47.62	33	30	SNP	1.000	A	A	190927070	G	A	190927070	3	1	150	1	0	0	0	0	1	0	0	0	9931	1174	41	3	886	3	MSTN	2	190927070	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	8147031	190927070	52272303	38	38141											
SLC39A10	57181	genome.wustl.edu	37	chr2	196573445	196573445	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacattctcatggacatgaAtctaacaagtttttggaaga	14	12	9	6	0	2	2	1	1	2	1	3	5	2	5	0	3	1	1	0	3	4	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:196573445A>C	ENST00000409086.3	+	5	1727	c.1452A>C	c.(1450-1452)gaA>gaC	p.E484D	SLC39A10_ENST00000359634.5_Missense_Mutation_p.E484D|SLC39A10_ENST00000541054.1_Missense_Mutation_p.E34D	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	484					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)			ATGGACATGAATCTAACAAGT	0.358																																																	0													123	112	116					2																	196573445		2203	4300	6503	SO:0001583	missense	0				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.1452A>C	2.37:g.196573445A>C	ENSP00000386766:p.Glu484Asp		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	pfam_ZIP	p.E484D	ENST00000409086.3	37	c.1452	CCDS33353.1	2	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565814	0.27915	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.70516	-0.2;-0.2;-0.49	5.17	0.165	0.14995	.	0.377530	0.27126	N	0.020810	T	0.55081	0.1898	L	0.37897	1.145	0.09310	N	1	P	0.34837	0.472	B	0.36959	0.237	T	0.45948	-0.9226	10	0.13470	T	0.59	.	9.671	0.40013	0.6465:0.0:0.3535:0.0	.	484	Q9ULF5	S39AA_HUMAN	D	484;484;34	ENSP00000386766:E484D;ENSP00000352655:E484D;ENSP00000437787:E34D	ENSP00000352655:E484D	E	+	3	2	SLC39A10	196281690	0.000000	0.05858	0.045000	0.18777	0.871000	0.50021	-0.233000	0.09041	-0.104000	0.12154	-0.256000	0.11100	GAA	SLC39A10	-	pfam_ZIP	ENSG00000196950		0.358	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A10	HGNC	protein_coding	OTTHUMT00000335186.1	-	0	42	0	A	XM_047707		196573445	1	tier1	-	no_errors	ENST00000359634	ensembl	human	known	74_37	missense	87.23	6	41	SNP	0.003	C	C	196573445	A	C	196573445	3	2	150	1	0	0	0	0	1	0	0	0	14658	98	4	4	1466	4	SLC39A10	2	196573445	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	5646375	196573445	46625928	39	38142											
FAM126B	285172	genome.wustl.edu	37	chr2	201846001	201846001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtcaaaactacacctGggatattagctgcatattga	14	11	9	7	0	1	1	1	1	0	0	1	3	1	3	1	2	4	2	1	2	6	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:201846001G>T	ENST00000418596.3	-	12	1772	c.1585C>A	c.(1585-1587)Cag>Aag	p.Q529K	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	529						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AACTACACCTGGGATATTAGC	0.463																																																	0													151	151	151					2																	201846001		2203	4300	6503	SO:0001583	missense	0			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1585C>A	2.37:g.201846001G>T	ENSP00000393667:p.Gln529Lys		B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	pfam_Hyccin	p.Q529K	ENST00000418596.3	37	c.1585	CCDS2335.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019077	0.75275	.	.	ENSG00000155744	ENST00000418596	D	0.81821	-1.54	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.83298	0.5224	N	0.19112	0.55	0.80722	D	1	D;P	0.57899	0.981;0.924	D;P	0.65010	0.931;0.9	D	0.84368	0.0542	10	0.54805	T	0.06	-7.661	20.2576	0.98430	0.0:0.0:1.0:0.0	.	335;529	B3KUG1;Q8IXS8	.;F126B_HUMAN	K	529	ENSP00000393667:Q529K	ENSP00000393667:Q529K	Q	-	1	0	FAM126B	201554246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.783000	0.95769	0.655000	0.94253	CAG	FAM126B	-	NULL	ENSG00000155744		0.463	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126B	HGNC	protein_coding	OTTHUMT00000256285.3		0	27	0	G	NM_173822		201846001	-1			no_errors	ENST00000418596	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	201846001	G	T	201846001	3	4	150	1	0	0	0	0	1	0	0	0	5449	1357	47	3	11	3	FAM126B	2	201846001	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	5272556	201846001	41353372	40	38143											
ATIC	471	genome.wustl.edu	37	chr2	216214359	216214359	+	Frame_Shift_Del	DEL	T	T	-																															catcctcgctcatacgaaccTtcggctcttccaccactgat																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:216214359delT	ENST00000236959.9	+	16	2086	c.1760delT	c.(1759-1761)cttfs	p.L587fs	ATIC_ENST00000435675.1_Frame_Shift_Del_p.L586fs|ATIC_ENST00000540518.1_Frame_Shift_Del_p.L528fs	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	587					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CATACGAACCTTCGGCTCTTC	0.478			T	ALK	ALCL																																			Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	0													230	197	208					2																	216214359		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1760delT	2.37:g.216214359delT	ENSP00000236959:p.Leu587fs		A8K202|E9PBU3|Q13856|Q53S28	Frame_Shift_Del	DEL	pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas	p.R588fs	ENST00000236959.9	37	c.1760	CCDS2398.1	2																																																																																			ATIC	-	superfamily_Cytidine_deaminase-like,pirsf_AICARFT_IMPCHas	ENSG00000138363		0.478	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATIC	HGNC	protein_coding	OTTHUMT00000256610.1		0	48	0	T	NM_004044		216214359	1	tier1		no_errors	ENST00000236959	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	0.999	-	-	216214359	T	-	216214359	7	5	150	1	0	1	0	1	0	0	0	0	1106	1609	56	0	1822	0	ATIC	2	216214359	Frame_Shift_Del	DEL	T	TCGA-R6-A8WC-01A-11D-A37C-09	14368358	216214359	26985014	41	38144											
DNER	92737	genome.wustl.edu	37	chr2	230253070	230253070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctcccaccatggtggcagGggttactgtcacattcattt	8	12	10	11	0	2	0	2	0	0	0	3	0	3	0	2	4	2	3	2	4	1	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:230253070G>T	ENST00000341772.4	-	11	1900	c.1766C>A	c.(1765-1767)cCc>cAc	p.P589H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	589	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATGGTGGCAGGGGTTACTGTC	0.502																																																	0													150	145	147					2																	230253070		2203	4300	6503	SO:0001583	missense	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1766C>A	2.37:g.230253070G>T	ENSP00000345229:p.Pro589His		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P589H	ENST00000341772.4	37	c.1766	CCDS33390.1	2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840937	0.91197	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.95377	-3.69	5.69	5.69	0.88448	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98682	0.9558	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99421	1.0933	10	0.87932	D	0	.	19.4112	0.94673	0.0:0.0:1.0:0.0	.	589	Q8NFT8	DNER_HUMAN	H	589;307	ENSP00000345229:P589H	ENSP00000345229:P589H	P	-	2	0	DNER	229961314	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.979000	0.93455	2.691000	0.91804	0.643000	0.83706	CCC	DNER	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000187957		0.502	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1		0	54	0	G	NM_139072		230253070	-1			no_errors	ENST00000341772	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T	T	230253070	G	T	230253070	3	4	150	1	0	0	0	0	1	0	0	0	4681	1232	43	3	459	3	DNER	2	230253070	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	14038711	230253070	12946303	42	38145											
DIS3L2	129563	genome.wustl.edu	37	chr2	232952395	232952395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaatgtgctggttgatGgtgttaagaaactctcagtt	12	13	10	6	0	1	2	1	1	1	1	2	2	1	2	0	2	2	4	0	2	4	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:232952395G>T	ENST00000409307.1	+	5	565	c.565G>T	c.(565-567)Ggt>Tgt	p.G189C	DIS3L2_ENST00000325385.7_Missense_Mutation_p.G189C|DIS3L2_ENST00000273009.6_Missense_Mutation_p.G189C|DIS3L2_ENST00000409401.3_Missense_Mutation_p.G189C|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000360410.4_Missense_Mutation_p.G189C					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GCTGGTTGATGGTGTTAAGAA	0.388																																																	0													67	68	68					2																	232952395		2001	4185	6186	SO:0001583	missense	0			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.565G>T	2.37:g.232952395G>T	ENSP00000386799:p.Gly189Cys			Missense_Mutation	SNP	NULL	p.G189C	ENST00000409307.1	37	c.565	CCDS42834.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933759	0.73442	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000360410;ENST00000409401;ENST00000431466;ENST00000409307	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.65	4.76	0.60689	.	0.250705	0.33515	N	0.004834	T	0.37210	0.0995	L	0.36672	1.1	0.23859	N	0.996644	B;P	0.41102	0.012;0.738	B;B	0.36808	0.01;0.233	T	0.42916	-0.9423	10	0.56958	D	0.05	-9.8991	13.3017	0.60328	0.0745:0.0:0.9255:0.0	.	189;189	Q8IYB7;Q8IYB7-4	DI3L2_HUMAN;.	C	189	ENSP00000273009:G189C;ENSP00000315569:G189C;ENSP00000353584:G189C;ENSP00000386594:G189C;ENSP00000386799:G189C	ENSP00000273009:G189C	G	+	1	0	DIS3L2	232660639	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	3.603000	0.54074	2.674000	0.91012	0.655000	0.94253	GGT	DIS3L2	-	NULL	ENSG00000144535		0.388	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1	-	0	43	0	G	NM_152383		232952395	1	tier1	-	no_errors	ENST00000325385	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.748	T	T	232952395	G	T	232952395	3	4	150	1	0	0	0	0	1	0	0	0	4551	1348	47	3	583	3	DIS3L2	2	232952395	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	2699325	232952395	10246978	43	38146											
EDEM1	9695	genome.wustl.edu	37	chr3	5252815	5252815	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttgtaggtgtgggtacGccacgctgcatcacgtcatt	6	14	12	9	3	2	0	2	0	0	0	2	0	2	0	1	2	2	5	1	2	2	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:5252815G>C	ENST00000256497.4	+	10	1727	c.1594G>C	c.(1594-1596)Gcc>Ccc	p.A532P	EDEM1_ENST00000445686.1_Missense_Mutation_p.A337P	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	532					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)		GTGTGGGTACGCCACGCTGCA	0.448																																																	0													134	122	126					3																	5252815		2203	4300	6503	SO:0001583	missense	0			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.1594G>C	3.37:g.5252815G>C	ENSP00000256497:p.Ala532Pro		A8K9C8|B4DXP3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.A532P	ENST00000256497.4	37	c.1594	CCDS33686.1	3	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770707	0.90108	.	.	ENSG00000134109	ENST00000256497;ENST00000445686	T;T	0.74526	-0.85;-0.85	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.90827	0.7119	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93373	0.6737	10	0.87932	D	0	-22.7801	19.1382	0.93436	0.0:0.0:1.0:0.0	.	532	Q92611	EDEM1_HUMAN	P	532;337	ENSP00000256497:A532P;ENSP00000394099:A337P	ENSP00000256497:A532P	A	+	1	0	EDEM1	5227815	1.000000	0.71417	0.918000	0.36340	0.640000	0.38277	9.260000	0.95568	2.505000	0.84491	0.655000	0.94253	GCC	EDEM1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000134109		0.448	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM1	HGNC	protein_coding	OTTHUMT00000337566.2	-	0	61	0	G	NM_014674		5252815	1	tier1	-	no_errors	ENST00000256497	ensembl	human	known	74_37	missense	62.65	31	52	SNP	1.000	C	C	5252815	G	C	5252815	3	2	150	1	0	0	0	0	1	0	0	0	4925	1087	38	5	1632	5	EDEM1	3	5252815	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09		5252815	192769615	44	38147											
ATP2B2	491	genome.wustl.edu	37	chr3	10400462	10400462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtcccagtccggctcCgggctgctggggaagtcgcg	4	9	15	13	4	1	0	1	0	0	0	5	1	4	1	3	4	1	3	3	4	1	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:10400462C>T	ENST00000352432.4	-	13	2118	c.2049G>A	c.(2047-2049)ccG>ccA	p.P683P	ATP2B2_ENST00000397077.1_Silent_p.P638P|ATP2B2_ENST00000383800.4_Silent_p.P638P|ATP2B2_ENST00000343816.4_Silent_p.P669P|ATP2B2_ENST00000360273.2_Silent_p.P683P			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	683					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						AGTCCGGCTCCGGGCTGCTGG	0.637																																					Ovarian(125;1619 1709 15675 19819 38835)												0													66	54	58					3																	10400462		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2049G>A	3.37:g.10400462C>T			O00766|Q12994|Q16818	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.P683	ENST00000352432.4	37	c.2049	CCDS33701.1	3																																																																																			ATP2B2	-	superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000157087		0.637	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	-	0	70	0	C	NM_001683		10400462	-1	tier1	-	no_errors	ENST00000352432	ensembl	human	known	74_37	silent	21.43	44	12	SNP	0.014	T	T	10400462	C	T	10400462	2	4	150	1	0	0	0	0	0	0	0	1	1141	639	23	1		1	ATP2B2	3	10400462	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	5147647	10400462	187621968	45	38148											
TRANK1	9881	genome.wustl.edu	37	chr3	36874533	36874533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcccaagcaggctccGtgtgatctgacacagcctgc	7	9	11	14	1	2	2	0	2	2	0	4	2	4	2	3	2	3	2	3	2	1	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:36874533G>A	ENST00000429976.2	-	21	6656	c.6409C>T	c.(6409-6411)Cgg>Tgg	p.R2137W	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1587W|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1587W	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2137							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						AGCAGGCTCCGTGTGATCTGA	0.428																																																	0													64	61	62					3																	36874533		1884	4109	5993	SO:0001583	missense	0			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.6409C>T	3.37:g.36874533G>A	ENSP00000416168:p.Arg2137Trp		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.R2137W	ENST00000429976.2	37	c.6409	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	7.964	0.747704	0.15710	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.33654	1.4;1.82;1.4	5.34	2.5	0.30297	.	0.927212	0.09080	N	0.851453	T	0.24774	0.0601	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	B	0.40410	0.328	T	0.12218	-1.0556	10	0.72032	D	0.01	.	10.1912	0.43028	0.0:0.1324:0.486:0.3817	.	2137	O15050	TRNK1_HUMAN	W	1587;2137;1587	ENSP00000416826:R1587W;ENSP00000416168:R2137W;ENSP00000301807:R1587W	ENSP00000301807:R1587W	R	-	1	2	TRANK1	36849537	0.051000	0.20477	0.522000	0.27862	0.272000	0.26649	0.880000	0.28159	0.303000	0.22785	0.555000	0.69702	CGG	TRANK1	-	NULL	ENSG00000168016		0.428	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0	48	0	G	NM_014831		36874533	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.013	A	A	36874533	G	A	36874533	3	1	150	1	0	0	0	0	1	0	0	0	16502	1144	40	1	2380	1	TRANK1	3	36874533	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	26474071	36874533	161147897	46	38149											
VILL	50853	genome.wustl.edu	37	chr3	38035810	38035810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgacctgcactactgggtcgGgaagcaggcgggtgcggaag	8	5	18	10	4	0	0	0	0	0	0	1	3	0	2	1	5	4	2	1	5	3	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:38035810G>T	ENST00000283713.6	+	4	460	c.194G>T	c.(193-195)gGg>gTg	p.G65V	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Missense_Mutation_p.G65V			O15195	VILL_HUMAN	villin-like	65					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)		TACTGGGTCGGGAAGCAGGCG	0.697																																																	0													13	16	15					3																	38035810		2191	4289	6480	SO:0001583	missense	0				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.194G>T	3.37:g.38035810G>T	ENSP00000283713:p.Gly65Val		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.G65V	ENST00000283713.6	37	c.194	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	G	36	5.742016	0.96873	.	.	ENSG00000136059	ENST00000283713;ENST00000416303;ENST00000492491;ENST00000383759;ENST00000356246	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	3.89	3.89	0.44902	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95078	0.8210	10	0.87932	D	0	-24.6222	15.1658	0.72825	0.0:0.0:1.0:0.0	.	65	O15195	VILL_HUMAN	V	65	ENSP00000283713:G65V;ENSP00000393661:G65V;ENSP00000427355:G65V;ENSP00000373266:G65V	ENSP00000283713:G65V	G	+	2	0	VILL	38010814	1.000000	0.71417	0.136000	0.22124	0.781000	0.44180	9.347000	0.97059	2.179000	0.69175	0.563000	0.77884	GGG	VILL	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin	ENSG00000136059		0.697	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3		0	32	0	G	NM_015873		38035810	1			no_errors	ENST00000283713	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.995	T	T	38035810	G	T	38035810	3	4	150	1	0	0	0	0	1	0	0	0	17214	1232	43	3	204	3	VILL	3	38035810	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	1161277	38035810	159986620	47	38150											
SCN11A	11280	genome.wustl.edu	37	chr3	38888452	38888452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttccatcattgctttCatactatctaggccatcaga	9	16	4	12	0	5	1	3	0	2	1	7	1	6	1	2	1	2	1	2	1	3	7			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:38888452C>A	ENST00000302328.3	-	26	5307	c.5109G>T	c.(5107-5109)atG>atT	p.M1703I	SCN11A_ENST00000450244.1_Missense_Mutation_p.M1703I|SCN11A_ENST00000456224.3_Missense_Mutation_p.M1665I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1703					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)	TCATTGCTTTCATACTATCTA	0.483																																																	0													164	160	161					3																	38888452		2203	4300	6503	SO:0001583	missense	0			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.5109G>T	3.37:g.38888452C>A	ENSP00000307599:p.Met1703Ile		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.M1703I	ENST00000302328.3	37	c.5109	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463787	0.26335	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.95821	-3.82;-3.82;-3.76	5.46	3.52	0.40303	.	266.135000	0.00496	N	0.000154	D	0.90693	0.7080	N	0.26092	0.79	0.30564	N	0.764161	B	0.30406	0.278	B	0.21360	0.034	D	0.83615	0.0136	10	0.41790	T	0.15	.	5.0824	0.14663	0.1904:0.61:0.1151:0.0845	.	1703	Q9UI33	SCNBA_HUMAN	I	1703;1703;1665	ENSP00000307599:M1703I;ENSP00000400945:M1703I;ENSP00000416757:M1665I	ENSP00000307599:M1703I	M	-	3	0	SCN11A	38863456	0.001000	0.12720	1.000000	0.80357	0.742000	0.42306	-0.114000	0.10757	2.544000	0.85801	0.650000	0.86243	ATG	SCN11A	-	NULL	ENSG00000168356		0.483	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0	47	0	C	NM_014139		38888452	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	35.14	24	13	SNP	0.584	A	A	38888452	C	A	38888452	3	1	150	1	0	0	0	0	1	0	0	0	13958	826	29	3	270	3	SCN11A	3	38888452	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	852642	38888452	159133978	48	38151											
DOCK3	1795	genome.wustl.edu	37	chr3	51264859	51264859	+	Missense_Mutation	SNP	A	A	G	1	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	gggctcccacctgcgctttgAgttcagacattgttccagtg	6	12	11	12	1	1	2	1	1	0	1	3	2	3	2	3	1	1	4	3	1	0	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:51264859A>G	ENST00000266037.9	+	16	1546	c.1523A>G	c.(1522-1524)gAg>gGg	p.E508G		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	508	DHR-1.				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)		CTGCGCTTTGAGTTCAGACAT	0.468																																																	0													85	81	82					3																	51264859		1839	4078	5917	SO:0001583	missense	0			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.1523A>G	3.37:g.51264859A>G	ENSP00000266037:p.Glu508Gly		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E508G	ENST00000266037.9	37	c.1523	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	A	28.2	4.903774	0.92035	.	.	ENSG00000088538	ENST00000266037	T	0.15603	2.41	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.21930	-1.0231	10	0.27785	T	0.31	.	16.5932	0.84781	1.0:0.0:0.0:0.0	.	508	Q8IZD9	DOCK3_HUMAN	G	508	ENSP00000266037:E508G	ENSP00000266037:E508G	E	+	2	0	DOCK3	51239899	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.320000	0.78422	0.528000	0.53228	GAG	DOCK3	-	NULL	ENSG00000088538		0.468	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	57	0	A	NM_004947		51264859	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	G	G	51264859	A	G	51264859	3	3	150	1	0	0	0	0	1	0	0	0	4702	304	11	4	1585	4	DOCK3	3	51264859	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	12376407	51264859	146757571	49	38152											
IQCF3	401067	genome.wustl.edu	37	chr3	51864628	51864628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgtcatccaggagcaggcGacggtcaagctccagtcctg	9	7	12	13	3	2	0	2	0	0	0	5	2	5	1	3	3	3	2	3	3	2	1	rs374017167		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:51864628G>A	ENST00000456080.1	+	8	1441	c.276G>A	c.(274-276)gcG>gcA	p.A92A	IQCF3_ENST00000437810.2_Silent_p.A92A|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Silent_p.A92A|IQCF3_ENST00000440739.2_Silent_p.A92A|IQCF3_ENST00000444293.1_Missense_Mutation_p.D56N			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	92	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAGCAGGCGACGGTCAAGC	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		20132	0		0	False		,,,				2504	0																0								G	,	12,4362		0,12,2175	85	96	92		276,276	-9.4	0	3		92	1,8553		0,1,4276	no	coding-synonymous,coding-synonymous	IQCF3	NM_001085479.2,NM_001207023.1	,	0,13,6451	AA,AG,GG		0.0117,0.2743,0.1006	,	92/155,92/155	51864628	13,12915	2187	4277	6464	SO:0001819	synonymous_variant	0			AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.276G>A	3.37:g.51864628G>A			B2RUV0	Missense_Mutation	SNP	NULL	p.D56N	ENST00000456080.1	37	c.166	CCDS46837.1	3	.	.	.	.	.	.	.	.	.	.	g	10.14	1.268845	0.23136	0.002743	1.17E-4	ENSG00000229972	ENST00000444293	.	.	.	4.72	-9.45	0.00600	.	.	.	.	.	T	0.36552	0.0971	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.55198	-0.8178	5	0.87932	D	0	.	8.9697	0.35899	0.152:0.2323:0.6157:0.0	.	.	.	.	N	56	.	ENSP00000402530:D56N	D	+	1	0	IQCF3	51839668	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.171000	0.00281	-1.522000	0.01769	-1.021000	0.02439	GAC	IQCF3	-	NULL	ENSG00000229972		0.612	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF3	HGNC	protein_coding	OTTHUMT00000346579.2	-	0	53	0	G	NM_001085479		51864628	1	tier1	-	no_errors	ENST00000444293	ensembl	human	putative	74_37	missense	64.58	17	31	SNP	0.000	A	A	51864628	G	A	51864628	2	1	150	1	0	0	0	0	0	0	0	1	7836	1045	37	1		1	IQCF3	3	51864628	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	599769	51864628	146157802	50	38153											
SLC25A26	115286	genome.wustl.edu	37	chr3	66313792	66313792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgaggctataaaagcacaGttttaagagaggtaagtcac	16	9	10	6	1	1	1	1	0	0	1	2	3	1	1	0	2	1	4	0	2	5	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:66313792G>T	ENST00000413054.1	+	3	252	c.178G>T	c.(178-180)Gtt>Ttt	p.V60F	SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000336733.6_Missense_Mutation_p.V60F|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000354883.6_Missense_Mutation_p.V148F			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	148					S-adenosyl-L-methionine transmembrane transport (GO:1901962)|S-adenosyl-L-methionine transport (GO:0015805)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	S-adenosyl-L-methionine transmembrane transporter activity (GO:0000095)			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		TAAAAGCACAGTTTTAAGAGA	0.348																																																	0													113	112	112					3																	66313792		2203	4300	6503	SO:0001583	missense	0			AJ580932	CCDS54604.1, CCDS2905.2	3p14.2	2013-05-22	2012-03-29		ENSG00000144741	ENSG00000144741		"Solute carriers"	20661	protein-coding gene	gene with protein product		611037	"solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26"			14674884	Standard	NM_173471		Approved		uc011bfq.2	Q70HW3	OTTHUMG00000149917	ENST00000413054.1:c.178G>T	3.37:g.66313792G>T	ENSP00000415304:p.Val60Phe		A8K758|B3KRZ7|Q7Z786|Q96E68	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.V148F	ENST00000413054.1	37	c.442		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.910654|4.910654	0.92107|0.92107	.|.	.|.	ENSG00000144741|ENSG00000144741	ENST00000413054|ENST00000354883;ENST00000336733	.|T;T	.|0.80653	.|-1.4;-1.4	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Mitochondrial carrier domain (2);	.|0.118373	.|0.56097	.|D	.|0.000028	D|D	0.88837|0.88837	0.6545|0.6545	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.995;0.993	.|D;D	.|0.74348	.|0.981;0.983	D|D	0.89249|0.89249	0.3589|0.3589	5|10	.|0.72032	.|D	.|0.01	-22.5985|-22.5985	19.4905|19.4905	0.95048|0.95048	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|148;148	.|F8WAB8;Q70HW3	.|.;SAMC_HUMAN	H|F	84|148;60	.|ENSP00000346955:V148F;ENSP00000336801:V60F	.|ENSP00000336801:V60F	Q|V	+|+	3|1	2|0	SLC25A26|SLC25A26	66396482|66396482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.912000|6.912000	0.75753|0.75753	2.601000|2.601000	0.87937|0.87937	0.585000|0.585000	0.79938|0.79938	CAG|GTT	SLC25A26	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000144741		0.348	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	SLC25A26	HGNC	protein_coding	OTTHUMT00000313895.2	-	0	49	0	G	NM_173471		66313792	1	tier1	-	no_errors	ENST00000354883	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	66313792	G	T	66313792	3	4	150	1	0	0	0	0	1	0	0	0	14534	1029	36	3	262	3	SLC25A26	3	66313792	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	14449164	66313792	131708638	51	38154											
FAM19A1	407738	genome.wustl.edu	37	chr3	68588032	68588032	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaaattaagaccacgagaGtaagtgcacttatttcaaat	18	10	6	7	1	1	2	1	0	0	2	1	3	1	2	1	0	1	2	1	0	6	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:68588032G>T	ENST00000478136.1	+	4	874		c.e4+1		FAM19A1_ENST00000496687.1_Splice_Site	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1							endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GACCACGAGAGTAAGTGCACT	0.428																																																	0													107	106	106					3																	68588032		1947	4144	6091	SO:0001630	splice_region_variant	0			AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.384+1G>T	3.37:g.68588032G>T			A8K0V3|Q8TCL8	Splice_Site	SNP	-	e3+1	ENST00000478136.1	37	c.384+1	CCDS54606.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615148	0.87359	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6691	0.91504	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM19A1	68670722	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.690000	0.98676	2.474000	0.83562	0.650000	0.86243	.	FAM19A1	-	-	ENSG00000183662		0.428	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A1	HGNC	protein_coding	OTTHUMT00000352004.1	-	0	46	0	G	NM_213609	Intron	68588032	1	tier1	-	no_errors	ENST00000478136	ensembl	human	known	74_37	splice_site	57.45	20	27	SNP	1.000	T	T	68588032	G	T	68588032	5	4	150	1	0	0	0	0	0	0	1	0	5550	1043	36	3	395	3	FAM19A1	3	68588032	Splice_Site	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	2274240	68588032	129434398	52	38155											
C3orf64	285203	genome.wustl.edu	37	chr3	69047176	69047176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	acttacggtgtcccacatcaCgatgtacacgtcagtactga	11	10	8	12	3	2	1	2	1	0	0	3	2	3	1	1	1	3	2	1	1	3	3	rs551271959		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:69047176C>T	ENST00000383701.3	-	10	1559	c.817G>A	c.(817-819)Gtg>Atg	p.V273M	EOGT_ENST00000540955.1_Intron|EOGT_ENST00000540764.1_Missense_Mutation_p.V172M|EOGT_ENST00000295571.5_Missense_Mutation_p.V273M	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	273					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										TCCCACATCACGATGTACACG	0.393																																																	0													162	137	146					3																	69047176		2203	4300	6503	SO:0001583	missense	0			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.817G>A	3.37:g.69047176C>T	ENSP00000373206:p.Val273Met		A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	pfam_Glycosyltransferase_AER61	p.V273M	ENST00000383701.3	37	c.817		3	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544526	0.45280	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	T;T;T	0.08193	3.12;3.12;3.12	5.41	4.52	0.55395	.	0.188795	0.45126	D	0.000383	T	0.24198	0.0586	.	.	.	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.64687	0.921;0.928	T	0.00180	-1.1948	9	0.39692	T	0.17	.	15.1701	0.72865	0.0:0.9282:0.0:0.0718	.	273;273	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	M	273;273;172	ENSP00000373206:V273M;ENSP00000295571:V273M;ENSP00000443780:V172M	ENSP00000295571:V273M	V	-	1	0	C3orf64	69129866	1.000000	0.71417	0.988000	0.46212	0.248000	0.25809	3.813000	0.55636	2.710000	0.92621	0.591000	0.81541	GTG	EOGT	-	pfam_Glycosyltransferase_AER61	ENSG00000163378		0.393	EOGT-002	KNOWN	basic|appris_principal	protein_coding	EOGT	HGNC	protein_coding	OTTHUMT00000343722.1		0	26	0	C	NM_173654		69047176	-1			no_errors	ENST00000383701	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	69047176	C	T	69047176	3	4	150	1	0	0	0	0	1	0	0	0	2247	536	19	1	538	1	C3orf64	3	69047176	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	459144	69047176	128975254	53	38156											
PHLDB2	90102	genome.wustl.edu	37	chr3	111688671	111688671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacctgccgaggattcctCatcaaaatgggtgggaaaat	14	8	11	8	1	2	1	2	0	0	1	3	4	3	3	3	3	1	0	3	3	5	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:111688671C>T	ENST00000431670.2	+	16	3861	c.3450C>T	c.(3448-3450)ctC>ctT	p.L1150L	PHLDB2_ENST00000495180.1_Silent_p.L641L|PHLDB2_ENST00000481953.1_Silent_p.L1107L|PHLDB2_ENST00000412622.1_Silent_p.L1107L|PHLDB2_ENST00000393925.3_Silent_p.L1150L|PHLDB2_ENST00000393923.3_Silent_p.L1134L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1150	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.L1107L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGGATTCCTCATCAAAATGG	0.418																																																	1	Substitution - coding silent(1)	breast(1)											135	138	137					3																	111688671		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3450C>T	3.37:g.111688671C>T			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L1150	ENST00000431670.2	37	c.3450	CCDS46886.1	3																																																																																			PHLDB2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000144824		0.418	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1		0	47	0	C	NM_145753		111688671	1			no_errors	ENST00000393925	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.995	T	T	111688671	C	T	111688671	2	4	150	1	0	0	0	0	0	0	0	1	11891	813	29	3		3	PHLDB2	3	111688671	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	42641495	111688671	86333759	54	38157											
KIAA2018	205717	genome.wustl.edu	37	chr3	113376116	113376116	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttgttgctgttgctgCtgctgctgctgctgctgctg	0	18	14	9	0	0	0	0	0	0	0	0	0	0	0	0	0	9	13	0	0	0	4	rs112313093|rs59601191		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:113376116C>T	ENST00000478658.1	-	5	4430	c.4413G>A	c.(4411-4413)caG>caA	p.Q1471Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q1471Q			Q68DE3	K2018_HUMAN	KIAA2018	1471	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						gctgttgctgctgctgctgct	0.498																																																	0													63	72	69					3																	113376116		2187	4278	6465	SO:0001819	synonymous_variant	0			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.4413G>A	3.37:g.113376116C>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Q1471	ENST00000478658.1	37	c.4413	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	-	0	39	0	C	NM_001009899		113376116	-1	tier1	-	no_errors	ENST00000316407	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	T	T	113376116	C	T	113376116	2	4	150	1	0	0	0	0	0	0	0	1	8295	796	28	3		3	KIAA2018	3	113376116	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	1687445	113376116	84646314	55	38158											
GOLGB1	2804	genome.wustl.edu	37	chr3	121410779	121410779	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcacccactatgcggtctcGatcattttggagagaagaca	11	10	10	10	2	3	2	2	0	1	2	4	5	3	3	1	2	1	0	1	2	2	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:121410779G>A	ENST00000340645.5	-	14	7542	c.7417C>T	c.(7417-7419)Cga>Tga	p.R2473*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.R2478*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2473					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)		ATGCGGTCTCGATCATTTTGG	0.413																																																	0													171	169	170					3																	121410779		2203	4300	6503	SO:0001587	stop_gained	0			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.7417C>T	3.37:g.121410779G>A	ENSP00000341848:p.Arg2473*		B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.R2473*	ENST00000340645.5	37	c.7417	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	48	14.172399	0.99783	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.69	4.8	0.61643	.	0.000000	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	13.6677	0.62405	0.0:0.0:0.8443:0.1557	.	.	.	.	X	2473;2478	.	ENSP00000341848:R2473X	R	-	1	2	GOLGB1	122893469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.745000	0.26259	1.359000	0.45940	0.563000	0.77884	CGA	GOLGB1	-	NULL	ENSG00000173230		0.413	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0	57	0	G	NM_004487		121410779	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	nonsense	51.95	37	40	SNP	1.000	A	A	121410779	G	A	121410779	4	1	150	1	0	0	0	0	0	1	0	0	6591	1066	37	1	2398	1	GOLGB1	3	121410779	Nonsense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	8034663	121410779	76611651	56	38159											
TRIM42	287015	genome.wustl.edu	37	chr3	140407024	140407024	+	Silent	SNP	A	A	G	1	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	cccaagaaggtacgctcctcAggggactccctgccctcccc	7	6	9	19	1	1	1	1	0	0	1	4	2	4	2	6	3	2	2	6	3	3	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:140407024A>G	ENST00000286349.3	+	3	1691	c.1500A>G	c.(1498-1500)tcA>tcG	p.S500S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	500						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						TACGCTCCTCAGGGGACTCCC	0.567																																																	0													78	76	77					3																	140407024		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1500A>G	3.37:g.140407024A>G			A1L4B4|Q8N832|Q8NDL3	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.S500	ENST00000286349.3	37	c.1500	CCDS3113.1	3																																																																																			TRIM42	-	NULL	ENSG00000155890		0.567	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	-	0	34	0	A	NM_152616		140407024	1	tier1	-	no_errors	ENST00000286349	ensembl	human	known	74_37	silent	34.48	19	10	SNP	0.233	G	G	140407024	A	G	140407024	2	3	150	1	0	0	0	0	0	0	0	1	16565	175	7	4		4	TRIM42	3	140407024	Silent	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	18996245	140407024	57615406	57	38160											
NMD3	51068	genome.wustl.edu	37	chr3	160956549	160956549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaagactgatctctcaaGatatccatagtaacacatac	17	9	4	11	0	2	3	1	1	1	2	4	3	3	3	1	0	2	1	1	0	6	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:160956549G>T	ENST00000460469.1	+	8	1143	c.688G>T	c.(688-690)Gat>Tat	p.D230Y	NMD3_ENST00000351193.2_Missense_Mutation_p.D230Y|NMD3_ENST00000472947.1_Missense_Mutation_p.D230Y			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	230					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)			GATCTCTCAAGATATCCATAG	0.294																																																	0													101	100	101					3																	160956549		2201	4297	6498	SO:0001583	missense	0			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.688G>T	3.37:g.160956549G>T	ENSP00000419004:p.Asp230Tyr		D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	pfam_NMD3	p.D230Y	ENST00000460469.1	37	c.688	CCDS3194.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298997	0.81025	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.63913	-0.0;-0.07;-0.0	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.86167	0.5868	H	0.96889	3.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.985	D	0.91214	0.5001	10	0.87932	D	0	-38.3077	17.0305	0.86459	0.0:0.0:1.0:0.0	.	230;230;230	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	Y	230;230;230;110	ENSP00000307525:D230Y;ENSP00000417559:D230Y;ENSP00000419004:D230Y	ENSP00000307525:D230Y	D	+	1	0	NMD3	162439243	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.012000	0.93624	2.336000	0.79503	0.591000	0.81541	GAT	NMD3	-	pfam_NMD3	ENSG00000169251		0.294	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1	-	0	55	0	G	NM_015938		160956549	1	tier1	-	no_errors	ENST00000351193	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	160956549	G	T	160956549	3	4	150	1	0	0	0	0	1	0	0	0	10527	942	33	3	718	3	NMD3	3	160956549	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	20549525	160956549	37065881	58	38161											
PLD1	5337	genome.wustl.edu	37	chr3	171455451	171455452	+	Splice_Site	INS	-	-	A																															cagagaaagggatatacactINSaaaaaaaaaagtaaataaag																								rs545683379|rs71178233		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:171455451_171455452insA	ENST00000351298.4	-	3	287		c.e3-2		PLD1_ENST00000340989.4_Splice_Site|PLD1_ENST00000342215.6_Splice_Site|PLD1_ENST00000356327.5_Splice_Site	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						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)	GGATATACACTAAAAAAAAAAG	0.327																																					NSCLC(149;2174 3517 34058)												0																																										SO:0001630	splice_region_variant	0			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.161-2->T	3.37:g.171455461_171455461dupA				Splice_Site	INS	-	e2-2	ENST00000351298.4	37	c.161-3_161-2	CCDS3216.1	3																																																																																			PLD1	-	-	ENSG00000075651		0.327	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2		0	22	0	-	NM_002662	Intron	171455452	-1	tier1		no_errors	ENST00000351298	ensembl	human	known	74_37	splice_site_ins	10.34	26	3	INS	0.999:0.901	A	A	171455452	-	A	171455451	8	5	150	1	0	1	1	0	0	0	1	0	12084	1536	53	0	3165	0	PLD1	3	171455451	Splice_Site	INS	-	TCGA-R6-A8WC-01A-11D-A37C-09	10498902	171455451	26566979	59	38162											
ECE2	9718	genome.wustl.edu	37	chr3	184008605	184008605	+	Silent	SNP	T	T	C	0	1	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	ctgaacttcggtggcatcggTgtggtcatgggccatgagtt	6	12	15	8	2	1	2	1	2	0	0	3	2	1	2	1	5	1	2	1	5	1	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:184008605T>C	ENST00000402825.3	+	16	2145	c.2145T>C	c.(2143-2145)ggT>ggC	p.G715G	ECE2_ENST00000404464.3_Silent_p.G597G|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.G643G|ECE2_ENST00000359140.4_Silent_p.G568G	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	715	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)			GTGGCATCGGTGTGGTCATGG	0.597																																																	0													108	103	105					3																	184008605		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2145T>C	3.37:g.184008605T>C			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.G715	ENST00000402825.3	37	c.2145	CCDS3256.2	3																																																																																			ECE2	-	pfam_Peptidase_M13_C,prints_Peptidase_M13_C	ENSG00000145194		0.597	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3		0	79	0	T	NM_014693		184008605	1			no_errors	ENST00000402825	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.163	C	C	184008605	T	C	184008605	2	2	150	1	0	0	0	0	0	0	0	1	4904	1683	59	4		4	ECE2	3	184008605	Silent	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	12553154	184008605	14013825	60	38163											
FGFRL1	53834	genome.wustl.edu	37	chr4	1006305	1006305	+	Missense_Mutation	SNP	T	T	C	0	1	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	ccccctgttgctgctcctgcTgccgccgctgctgctggggg	0	10	14	17	2	0	0	0	0	0	0	1	0	1	0	5	2	6	7	5	2	0	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:1006305T>C	ENST00000398484.2	+	3	612	c.32T>C	c.(31-33)cTg>cCg	p.L11P	FGFRL1_ENST00000510644.1_Missense_Mutation_p.L11P|FGFRL1_ENST00000504138.1_Missense_Mutation_p.L11P|FGFRL1_ENST00000264748.6_Missense_Mutation_p.L11P			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	11					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)			ctgctcctgctgccgccgctg	0.746																																																	0													11	12	12					4																	1006305		2098	4130	6228	SO:0001583	missense	0				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.32T>C	4.37:g.1006305T>C	ENSP00000381498:p.Leu11Pro		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L11P	ENST00000398484.2	37	c.32	CCDS3344.1	4	.	.	.	.	.	.	.	.	.	.	T	9.904	1.207788	0.22205	.	.	ENSG00000127418	ENST00000398484;ENST00000510644;ENST00000504138;ENST00000512174;ENST00000507339;ENST00000264748	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.6;-0.12;-0.81	2.36	-1.86	0.07760	.	0.300978	0.23076	U	0.052214	T	0.46268	0.1384	N	0.08118	0	0.30194	N	0.799243	B	0.02656	0.0	B	0.04013	0.001	T	0.27872	-1.0061	10	0.87932	D	0	.	3.6171	0.08082	0.2164:0.4815:0.0:0.3021	.	11	Q8N441	FGRL1_HUMAN	P	11	ENSP00000381498:L11P;ENSP00000425025:L11P;ENSP00000423091:L11P;ENSP00000426740:L11P;ENSP00000424037:L11P;ENSP00000264748:L11P	ENSP00000264748:L11P	L	+	2	0	FGFRL1	996305	0.693000	0.27728	0.969000	0.41365	0.463000	0.32649	-0.018000	0.12568	-0.261000	0.09405	-0.451000	0.05528	CTG	FGFRL1	-	NULL	ENSG00000127418		0.746	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2	-	0	16	0	T	NM_021923		1006305	1	tier1	-	no_errors	ENST00000264748	ensembl	human	known	74_37	missense	66.67	2	4	SNP	0.263	C	C	1006305	T	C	1006305	3	2	150	1	0	0	0	0	1	0	0	0	5891	1580	55	4	34	4	FGFRL1	4	1006305	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09		1006305	190147971	61	38164											
TADA2B	93624	genome.wustl.edu	37	chr4	7055827	7055827	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttggtgcttcccggactccCcaagaggtgatggagcatta	8	10	13	10	1	0	2	0	1	0	1	2	4	2	4	3	4	2	3	3	4	2	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:7055827C>T	ENST00000310074.7	+	2	498	c.309C>T	c.(307-309)ccC>ccT	p.P103P	TADA2B_ENST00000512388.1_Silent_p.P28P|TADA2B_ENST00000515646.1_Silent_p.P11P	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	103	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CCCGGACTCCCCAAGAGGTGA	0.572																																																	0													35	40	38					4																	7055827		2067	4180	6247	SO:0001819	synonymous_variant	0			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.309C>T	4.37:g.7055827C>T			A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.P103	ENST00000310074.7	37	c.309	CCDS47007.1	4																																																																																			TADA2B	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom	ENSG00000173011		0.572	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	-	0	64	0	C	NM_152293		7055827	1	tier1	-	no_errors	ENST00000310074	ensembl	human	known	74_37	silent	48.84	22	21	SNP	0.447	T	T	7055827	C	T	7055827	2	4	150	1	0	0	0	0	0	0	0	1	15558	610	22	3		3	TADA2B	4	7055827	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	6049522	7055827	184098449	62	38165											
HOPX	84525	genome.wustl.edu	37	chr4	57522152	57522152	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtggggccgctcgcGgtctccgccgacatggtccc	2	9	13	17	5	2	0	0	0	2	0	6	1	4	0	5	4	0	1	5	4	0	0	rs11555051		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:57522152G>A	ENST00000337881.7	-	2	671	c.15C>T	c.(13-15)acC>acT	p.T5T	HOPX_ENST00000317745.7_Silent_p.T5T|HOPX_ENST00000556614.2_Silent_p.T5T|HOPX_ENST00000503639.3_Silent_p.T5T|HOPX_ENST00000553379.2_Silent_p.T5T|HOPX_ENST00000555760.2_Silent_p.T5T|HOPX_ENST00000554144.1_Silent_p.T23T|HOPX_ENST00000381260.3_Silent_p.T5T|HOPX_ENST00000556376.2_Silent_p.T5T|HOPX_ENST00000381255.3_Silent_p.T5T|HOPX_ENST00000508121.1_Silent_p.T23T|HOPX_ENST00000420433.1_Silent_p.T23T	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	5					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)					GGCCGCTCGCGGTCTCCGCCG	0.692																																																	0													52	47	49					4																	57522152		2202	4300	6502	SO:0001819	synonymous_variant	0				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.15C>T	4.37:g.57522152G>A			A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Silent	SNP	superfamily_Homeodomain-like	p.T23	ENST00000337881.7	37	c.69	CCDS3507.1	4																																																																																			HOPX	-	superfamily_Homeodomain-like	ENSG00000171476		0.692	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HOPX	HGNC	protein_coding	OTTHUMT00000250689.4	-	0	47	0	G			57522152	-1	tier1	-	no_errors	ENST00000554144	ensembl	human	known	74_37	silent	50.00	19	19	SNP	0.000	A	A	57522152	G	A	57522152	2	1	150	1	0	0	0	0	0	0	0	1	7312	1103	39	1		1	HOPX	4	57522152	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	50466325	57522152	133632124	63	38166											
LPHN3	23284	genome.wustl.edu	37	chr4	62599270	62599270	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacctctggatagtagatCaggtaagttcaaccttttgt	10	14	10	7	0	3	1	2	0	1	1	3	3	3	3	2	3	1	3	2	3	4	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:62599270C>A	ENST00000514591.1	+	7	1522	c.1193C>A	c.(1192-1194)tCa>tAa	p.S398*	LPHN3_ENST00000514157.1_Nonsense_Mutation_p.S398*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.S466*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.S466*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.S398*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.S398*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.S398*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.S398*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.S466*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.S398*|LPHN3_ENST00000512091.2_Nonsense_Mutation_p.S398*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.S466*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.S466*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.S466*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.S466*			Q9HAR2	LPHN3_HUMAN	latrophilin 3	398					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						GATAGTAGATCAGGTAAGTTC	0.358																																																	0													33	31	32					4																	62599270		1829	4088	5917	SO:0001587	stop_gained	0			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.1193C>A	4.37:g.62599270C>A	ENSP00000422533:p.Ser398*		E9PE04|O94867|Q9NWK5	Nonsense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.S466*	ENST00000514591.1	37	c.1397	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.798658	0.96960	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.	.	.	5.31	5.31	0.75309	.	0.370541	0.26931	N	0.021780	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	17.9471	0.89042	0.0:1.0:0.0:0.0	.	.	.	.	X	398;398;466;466;398;398;398;398;398;466;466;466;398;398;398;466;466;398	.	ENSP00000280009:S398X	S	+	2	0	LPHN3	62281865	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.545000	0.60698	2.471000	0.83476	0.557000	0.71058	TCA	LPHN3	-	NULL	ENSG00000150471		0.358	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	-	0	22	0	C			62599270	1	tier1	-	no_errors	ENST00000507625	ensembl	human	known	74_37	nonsense	44.44	10	8	SNP	1.000	A	A	62599270	C	A	62599270	4	1	150	1	0	0	0	0	0	1	0	0	8952	838	29	3	1211	3	LPHN3	4	62599270	Nonsense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	5077118	62599270	128555006	64	38167											
SLC4A4	8671	genome.wustl.edu	37	chr4	72222742	72222742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgattgttgaccatCagattgagacaggcctattg	12	11	11	7	0	1	5	1	3	0	3	1	7	1	5	2	1	0	1	2	1	1	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:72222742C>A	ENST00000264485.5	+	6	685	c.568C>A	c.(568-570)Cag>Aag	p.Q190K	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.Q146K|SLC4A4_ENST00000340595.3_Missense_Mutation_p.Q146K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.Q190K|SLC4A4_ENST00000425175.1_Missense_Mutation_p.Q190K	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	190					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)	TGTTGACCATCAGATTGAGAC	0.393																																																	0													114	117	116					4																	72222742		2203	4300	6503	SO:0001583	missense	0			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.568C>A	4.37:g.72222742C>A	ENSP00000264485:p.Gln190Lys		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.Q190K	ENST00000264485.5	37	c.568	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485907	0.84854	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.77	5.77	0.91146	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.049440	0.85682	D	0.000000	D	0.84170	0.5413	M	0.86343	2.81	0.80722	D	1	P;D;D;P;P;P	0.67145	0.868;0.996;0.963;0.915;0.755;0.863	P;D;P;P;P;P	0.67900	0.794;0.954;0.836;0.574;0.689;0.845	D	0.84034	0.0361	10	0.42905	T	0.14	.	19.9854	0.97342	0.0:1.0:0.0:0.0	.	190;190;146;146;170;190	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	K	190;190;190;146;146	ENSP00000264485:Q190K;ENSP00000393557:Q190K;ENSP00000307349:Q190K;ENSP00000422400:Q146K;ENSP00000344272:Q146K	ENSP00000264485:Q190K	Q	+	1	0	SLC4A4	72441606	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.716000	0.92895	0.655000	0.94253	CAG	SLC4A4	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000080493		0.393	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1		0	52	0	C	NM_003759		72222742	1			no_errors	ENST00000425175	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	72222742	C	A	72222742	3	1	150	1	0	0	0	0	1	0	0	0	14701	827	29	3	707	3	SLC4A4	4	72222742	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	9623472	72222742	118931534	65	38168											
BMP3	651	genome.wustl.edu	37	chr4	81967109	81967109	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagcagaaaccaaagtcaActccttggccatctgtcagt	12	10	7	12	0	4	1	3	0	1	1	5	1	5	1	3	1	3	1	3	1	3	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:81967109A>C	ENST00000282701.2	+	2	854	c.534A>C	c.(532-534)caA>caC	p.Q178H		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	178					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						ACCAAAGTCAACTCCTTGGCC	0.448																																																	0													159	155	156					4																	81967109		2203	4300	6503	SO:0001583	missense	0			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.534A>C	4.37:g.81967109A>C	ENSP00000282701:p.Gln178His		Q4VAS5	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.Q178H	ENST00000282701.2	37	c.534	CCDS3588.1	4	.	.	.	.	.	.	.	.	.	.	A	5.336	0.247260	0.10130	.	.	ENSG00000152785	ENST00000282701	T	0.65916	-0.18	4.47	-4.32	0.03688	Transforming growth factor-beta, N-terminal (1);	0.350612	0.34178	N	0.004185	T	0.41880	0.1178	L	0.46157	1.445	0.28147	N	0.929537	B	0.06786	0.001	B	0.12156	0.007	T	0.15037	-1.0451	10	0.46703	T	0.11	.	1.0711	0.01622	0.1941:0.1328:0.3125:0.3606	.	178	P12645	BMP3_HUMAN	H	178	ENSP00000282701:Q178H	ENSP00000282701:Q178H	Q	+	3	2	BMP3	82186133	0.992000	0.36948	0.974000	0.42286	0.052000	0.14988	0.331000	0.19733	-0.518000	0.06452	-0.290000	0.09829	CAA	BMP3	-	pfam_TGF-b_N,pirsf_BMP3/GDF10	ENSG00000152785		0.448	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP3	HGNC	protein_coding	OTTHUMT00000252634.1	-	0	48	0	A			81967109	1	tier1	-	no_errors	ENST00000282701	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.857	C	C	81967109	A	C	81967109	3	2	150	1	0	0	0	0	1	0	0	0	1463	40	2	4	540	4	BMP3	4	81967109	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	9744367	81967109	109187167	66	38169											
UNC5C	8633	genome.wustl.edu	37	chr4	96091308	96091308	+	Missense_Mutation	SNP	T	T	A	0	1	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	ggccagaccatacccacctgTccaggttcagcttatgggcc	8	8	10	15	0	1	1	1	0	0	1	2	1	2	1	6	3	2	2	6	3	2	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:96091308T>A	ENST00000453304.1	-	15	2975	c.2627A>T	c.(2626-2628)gAc>gTc	p.D876V		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	876	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TACCCACCTGTCCAGGTTCAG	0.532																																																	0													92	95	94					4																	96091308		2203	4300	6503	SO:0001583	missense	0			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2627A>T	4.37:g.96091308T>A	ENSP00000406022:p.Asp876Val		Q8IUT0	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.D876V	ENST00000453304.1	37	c.2627	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	T	26.0	4.695930	0.88830	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	D	0.86562	-2.14	5.51	5.51	0.81932	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.94175	0.8131	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.95044	0.8181	10	0.87932	D	0	.	15.79	0.78350	0.0:0.0:0.0:1.0	.	876	O95185	UNC5C_HUMAN	V	876;835	ENSP00000406022:D876V	ENSP00000328673:D835V	D	-	2	0	UNC5C	96310331	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.868000	0.87116	2.313000	0.78055	0.455000	0.32223	GAC	UNC5C	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain	ENSG00000182168		0.532	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	HGNC	protein_coding	OTTHUMT00000253607.1	-	0	65	0	T	NM_003728		96091308	-1	tier1	-	no_errors	ENST00000453304	ensembl	human	known	74_37	missense	40.82	28	20	SNP	1.000	A	A	96091308	T	A	96091308	3	1	150	1	0	0	0	0	1	0	0	0	17042	1667	58	5	176	5	UNC5C	4	96091308	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	14124199	96091308	95062968	67	38170											
SEC24B	10427	genome.wustl.edu	37	chr4	110448579	110448579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagctgccatctgccttctgGcaaacatgggtgagtaaaaa	13	9	10	9	0	2	1	0	1	2	0	2	1	2	1	2	2	4	3	2	2	5	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:110448579G>A	ENST00000265175.5	+	18	3122	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T	SEC24B_ENST00000504968.2_Missense_Mutation_p.A1053T|SEC24B_ENST00000399100.2_Missense_Mutation_p.A988T	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1023					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)		CTGCCTTCTGGCAAACATGGG	0.438																																																	0													115	107	110					4																	110448579		1891	4116	6007	SO:0001583	missense	0			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.3067G>A	4.37:g.110448579G>A	ENSP00000265175:p.Ala1023Thr		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.A1023T	ENST00000265175.5	37	c.3067	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.303767	0.95601	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.92099	-2.97;-2.97;-2.97	5.4	5.4	0.78164	Sec23/Sec24, helical domain (2);	0.102804	0.64402	D	0.000003	D	0.95121	0.8419	L	0.57130	1.785	0.80722	D	1	P;D;D;D;D	0.64830	0.921;0.994;0.994;0.993;0.994	P;P;D;P;D	0.65443	0.731;0.833;0.935;0.892;0.935	D	0.95247	0.8356	10	0.87932	D	0	-22.627	19.5642	0.95386	0.0:0.0:1.0:0.0	.	937;622;1053;988;1023	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	T	1053;988;1023	ENSP00000428564:A1053T;ENSP00000382051:A988T;ENSP00000265175:A1023T	ENSP00000265175:A1023T	A	+	1	0	SEC24B	110668028	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.717000	0.92951	0.655000	0.94253	GCA	SEC24B	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom	ENSG00000138802		0.438	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	-	0	48	0	G			110448579	1	tier1	-	no_errors	ENST00000265175	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	110448579	G	A	110448579	3	1	150	1	0	0	0	0	1	0	0	0	14040	1203	42	3	3137	3	SEC24B	4	110448579	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	14357271	110448579	80705697	68	38171											
FAT4	79633	genome.wustl.edu	37	chr4	126389802	126389802	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaagtcatgccttattgcTttacaactatgacaaccaga	15	12	5	9	0	1	2	1	1	0	1	1	2	1	2	2	0	5	1	2	0	7	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:126389802T>A	ENST00000394329.3	+	11	12048	c.12035T>A	c.(12034-12036)cTt>cAt	p.L4012H	FAT4_ENST00000335110.5_Missense_Mutation_p.L2275H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4012	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						GCCTTATTGCTTTACAACTAT	0.393																																																	0													81	80	80					4																	126389802		2203	4300	6503	SO:0001583	missense	0			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.12035T>A	4.37:g.126389802T>A	ENSP00000377862:p.Leu4012His		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L4012H	ENST00000394329.3	37	c.12035	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445758	0.84101	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.86562	-2.14;-2.14	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);	0.000000	0.26931	U	0.021771	D	0.94142	0.8121	M	0.88310	2.945	0.54753	D	0.999984	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.943;0.981;0.943	D	0.95188	0.8305	10	0.87932	D	0	.	15.0081	0.71527	0.0:0.0:0.0:1.0	.	2275;4012;4012	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	4012;2275	ENSP00000377862:L4012H;ENSP00000335169:L2275H	ENSP00000335169:L2275H	L	+	2	0	FAT4	126609252	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.877000	0.87225	1.943000	0.56356	0.473000	0.43528	CTT	FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196159		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	78	0	T	NM_024582		126389802	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	44.26	34	27	SNP	1.000	A	A	126389802	T	A	126389802	3	1	150	1	0	0	0	0	1	0	0	0	5714	1609	56	5	12077	5	FAT4	4	126389802	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	15941223	126389802	64764474	69	38172											
TLL1	7092	genome.wustl.edu	37	chr4	166915537	166915537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatgtcactgcaggcttGgagcaaaacaacacagttaa	16	9	8	8	0	1	0	1	0	0	0	1	1	1	1	0	2	4	4	0	2	6	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:166915537G>T	ENST00000061240.2	+	4	1013	c.366G>T	c.(364-366)ttG>ttT	p.L122F	TLL1_ENST00000507499.1_Missense_Mutation_p.L122F|TLL1_ENST00000513213.1_Missense_Mutation_p.L122F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	122					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)		CTGCAGGCTTGGAGCAAAACA	0.378																																																	0													64	61	62					4																	166915537		2203	4300	6503	SO:0001583	missense	0			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.366G>T	4.37:g.166915537G>T	ENSP00000061240:p.Leu122Phe		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.L122F	ENST00000061240.2	37	c.366	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267337	0.23136	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	T;T;T;T	0.78003	0.43;0.35;0.3;-1.14	5.31	3.22	0.36961	.	0.644830	0.13957	U	0.351087	T	0.54351	0.1853	N	0.14661	0.345	0.23249	N	0.998042	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	10	0.09590	T	0.72	.	4.6113	0.12404	0.2648:0.0:0.5303:0.2048	.	122;122	E9PD25;O43897	.;TLL1_HUMAN	F	122;122;122;22	ENSP00000061240:L122F;ENSP00000426082:L122F;ENSP00000422937:L122F;ENSP00000423748:L22F	ENSP00000061240:L122F	L	+	3	2	TLL1	167134987	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.396000	0.34531	1.222000	0.43521	0.655000	0.94253	TTG	TLL1	-	pirsf_BMP_1/tolloid-like	ENSG00000038295		0.378	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0	66	0	G			166915537	1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.997	T	T	166915537	G	T	166915537	3	4	150	1	0	0	0	0	1	0	0	0	15992	1339	47	3	380	3	TLL1	4	166915537	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	40525735	166915537	24238739	70	38173											
KIAA1430	57587	genome.wustl.edu	37	chr4	186112044	186112044	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctgttgtaacatcacacaAtttttttgatcttgaagagg	11	16	7	7	0	2	3	1	2	1	1	3	3	3	3	1	1	1	2	1	1	3	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:186112044A>T	ENST00000458385.2	-	2	426	c.307T>A	c.(307-309)Ttg>Atg	p.L103M	KIAA1430_ENST00000514798.1_Missense_Mutation_p.L103M|KIAA1430_ENST00000296775.6_Missense_Mutation_p.L103M	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		103										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		ACATCACACAATTTTTTTGAT	0.368																																																	0													114	99	104					4																	186112044		1838	4105	5943	SO:0001583	missense	0																														ENST00000458385.2:c.307T>A	4.37:g.186112044A>T	ENSP00000409964:p.Leu103Met		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	NULL	p.L103M	ENST00000458385.2	37	c.307	CCDS47168.1	4	.	.	.	.	.	.	.	.	.	.	A	8.481	0.859720	0.17178	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775;ENST00000503223	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.46	-8.41	0.00961	.	0.603693	0.14876	N	0.293227	T	0.26484	0.0647	L	0.50333	1.59	0.09310	N	1	B;B	0.25904	0.137;0.049	B;B	0.21546	0.035;0.016	T	0.13415	-1.0510	10	0.33141	T	0.24	1.2489	1.3221	0.02118	0.3345:0.0847:0.2601:0.3207	.	103;103	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	M	103	ENSP00000409964:L103M;ENSP00000423312:L103M;ENSP00000296775:L103M;ENSP00000420832:L103M	ENSP00000296775:L103M	L	-	1	2	KIAA1430	186349038	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.707000	0.05041	-0.882000	0.03987	0.533000	0.62120	TTG	KIAA1430	-	NULL	ENSG00000164323		0.368	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	-	0	51	0	A			186112044	-1	tier1	-	no_errors	ENST00000296775	ensembl	human	known	74_37	missense	42.59	31	23	SNP	0.000	T	T	186112044	A	T	186112044	3	4	150	1	0	0	0	0	1	0	0	0	8259	98	4	5	1307	5	KIAA1430	4	186112044	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	19196507	186112044	5042232	71	38174											
DNAH5	1767	genome.wustl.edu	37	chr5	13839580	13839580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagaatcttcgttaaagtAaaatctgcactgtttcagcc	12	13	7	9	1	4	1	2	0	2	1	5	1	4	1	1	0	2	4	1	0	5	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:13839580A>G	ENST00000265104.4	-	35	5871	c.5767T>C	c.(5767-5769)Tac>Cac	p.Y1923H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1923	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTTAAAGTAAAATCTGCAC	0.383									Kartagener syndrome																																								0													108	105	106					5																	13839580		2203	4300	6503	SO:0001583	missense	0	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.5767T>C	5.37:g.13839580A>G	ENSP00000265104:p.Tyr1923His		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Y1923H	ENST00000265104.4	37	c.5767	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	23.2	4.382462	0.82792	.	.	ENSG00000039139	ENST00000265104	T	0.35973	1.28	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.71986	0.3405	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82240	-0.0555	10	0.87932	D	0	.	13.7867	0.63115	1.0:0.0:0.0:0.0	.	1923	Q8TE73	DYH5_HUMAN	H	1923	ENSP00000265104:Y1923H	ENSP00000265104:Y1923H	Y	-	1	0	DNAH5	13892580	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.265000	0.95647	1.866000	0.54105	0.528000	0.53228	TAC	DNAH5	-	NULL	ENSG00000039139		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	36	0	A	NM_001369		13839580	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	87.10	4	27	SNP	1.000	G	G	13839580	A	G	13839580	3	3	150	1	0	0	0	0	1	0	0	0	4618	362	13	4	8287	4	DNAH5	5	13839580	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09		13839580	167075680	72	38175											
RXFP3	51289	genome.wustl.edu	37	chr5	33937727	33937727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctgctggtgcgcttcatCgccgaccgccgcgcggcggg	2	7	16	16	8	1	0	1	0	0	0	2	1	1	0	3	3	3	3	3	3	0	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:33937727C>T	ENST00000330120.3	+	1	1237	c.882C>T	c.(880-882)atC>atT	p.I294I		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						TGCGCTTCATCGCCGACCGCC	0.667																																																	0													32	24	27					5																	33937727		2189	4274	6463	SO:0001819	synonymous_variant	0			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.882C>T	5.37:g.33937727C>T			Q14DA5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.I294	ENST00000330120.3	37	c.882	CCDS3900.1	5																																																																																			RXFP3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182631		0.667	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP3	HGNC	protein_coding	OTTHUMT00000207369.1	-	0	21	0	C	NM_016568		33937727	1	tier1	-	no_errors	ENST00000330120	ensembl	human	known	74_37	silent	100.00	0	25	SNP	1.000	T	T	33937727	C	T	33937727	2	4	150	1	0	0	0	0	0	0	0	1	13806	874	31	1		1	RXFP3	5	33937727	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	20098147	33937727	146977533	73	38176											
SPEF2	79925	genome.wustl.edu	37	chr5	35646850	35646850	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattcctaaacctgcatcaAatcgtactttgaaagcactc	14	11	5	11	1	1	2	1	1	0	1	4	2	2	2	2	0	4	3	2	0	5	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:35646850A>C	ENST00000356031.3	+	5	821	c.667A>C	c.(667-669)Aat>Cat	p.N223H	SPEF2_ENST00000282469.6_Missense_Mutation_p.N223H|SPEF2_ENST00000509059.1_Missense_Mutation_p.N223H|SPEF2_ENST00000440995.2_Missense_Mutation_p.N223H	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	223					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)			ACCTGCATCAAATCGTACTTT	0.333																																																	0													94	99	97					5																	35646850		2203	4300	6503	SO:0001583	missense	0			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.667A>C	5.37:g.35646850A>C	ENSP00000348314:p.Asn223His		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.N223H	ENST00000356031.3	37	c.667	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089593	0.55968	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.32515	2.29;3.26;2.29;1.45;3.26	5.76	5.76	0.90799	.	0.610009	0.18122	N	0.151014	T	0.50990	0.1648	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.993	D;D;P	0.85130	0.997;0.941;0.878	T	0.44205	-0.9343	10	0.45353	T	0.12	.	12.5695	0.56328	0.8614:0.1386:0.0:0.0	.	223;223;223	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	H	223;223;223;166;223	ENSP00000282469:N223H;ENSP00000348314:N223H;ENSP00000421593:N223H;ENSP00000426259:N166H;ENSP00000412125:N223H	ENSP00000282469:N223H	N	+	1	0	SPEF2	35682607	0.582000	0.26749	0.998000	0.56505	0.547000	0.35210	3.928000	0.56506	2.209000	0.71365	0.533000	0.62120	AAT	SPEF2	-	NULL	ENSG00000152582		0.333	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	35	0	A	NM_144722		35646850	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	60.00	4	6	SNP	0.828	C	C	35646850	A	C	35646850	3	2	150	1	0	0	0	0	1	0	0	0	15082	14	1	4	685	4	SPEF2	5	35646850	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	1709123	35646850	145268410	74	38177											
HCN1	348980	genome.wustl.edu	37	chr5	45303785	45303785	+	Frame_Shift_Del	DEL	T	T	-																															accgtgttgaatgaaatacaTttttttacccacggctcctt																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:45303785delT	ENST00000303230.4	-	6	1591	c.1534delA	c.(1534-1536)atgfs	p.M512fs		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	512					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)	p.M512fs*17(1)		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						ATGAAATACATTTTTTTACCC	0.398																																																	1	Insertion - Frameshift(1)	large_intestine(1)											110	107	108					5																	45303785		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1534delA	5.37:g.45303785delT	ENSP00000307342:p.Met512fs			Frame_Shift_Del	DEL	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.M512fs	ENST00000303230.4	37	c.1534	CCDS3952.1	5																																																																																			HCN1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000164588		0.398	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1		0	57	0	T	NM_021072		45303785	-1	tier1		no_errors	ENST00000303230	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	1.000	-	-	45303785	T	-	45303785	7	5	150	1	0	1	0	1	0	0	0	0	7023	1493	52	0	1150	0	HCN1	5	45303785	Frame_Shift_Del	DEL	T	TCGA-R6-A8WC-01A-11D-A37C-09	9656935	45303785	135611475	75	38178											
IQGAP2	10788	genome.wustl.edu	37	chr5	75893335	75893335	+	Missense_Mutation	SNP	A	A	G	1	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	agaatacgctgcttgcactgAagaaaccagaggcccagctg	13	6	11	11	1	0	4	0	1	0	3	0	4	0	4	2	1	5	4	2	1	4	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:75893335A>G	ENST00000274364.6	+	10	1276	c.979A>G	c.(979-981)Aag>Gag	p.K327E	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	327					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)		GCTTGCACTGAAGAAACCAGA	0.507																																																	0													118	110	113					5																	75893335		2203	4300	6503	SO:0001583	missense	0			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.979A>G	5.37:g.75893335A>G	ENSP00000274364:p.Lys327Glu		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.K327E	ENST00000274364.6	37	c.979	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	A	3.401	-0.122349	0.06795	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.06371	3.31;3.31;3.31	5.79	-4.7	0.03288	.	0.608600	0.18245	N	0.147132	T	0.03220	0.0094	L	0.27053	0.805	0.43061	D	0.99468	B	0.02656	0.0	B	0.08055	0.003	T	0.48927	-0.8991	10	0.07813	T	0.8	-5.5083	9.4699	0.38835	0.2717:0.5012:0.2271:0.0	.	327	Q13576	IQGA2_HUMAN	E	327;300;277	ENSP00000274364:K327E;ENSP00000423672:K300E;ENSP00000421097:K277E	ENSP00000274364:K327E	K	+	1	0	IQGAP2	75929091	0.714000	0.27936	0.406000	0.26421	0.141000	0.21300	0.017000	0.13399	-1.125000	0.02932	-0.321000	0.08615	AAG	IQGAP2	-	NULL	ENSG00000145703		0.507	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	-	0	30	0	A	NM_006633		75893335	1	tier1	-	no_errors	ENST00000274364	ensembl	human	known	74_37	missense	38.10	13	8	SNP	0.605	G	G	75893335	A	G	75893335	3	3	150	1	0	0	0	0	1	0	0	0	7842	247	9	4	1017	4	IQGAP2	5	75893335	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	30589550	75893335	105021925	76	38179											
MSH3	4437	genome.wustl.edu	37	chr5	79968645	79968645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttttcccggaaattgactgCcctttatacaaaatctacac	12	13	4	12	1	1	1	0	1	1	0	2	2	2	2	2	1	3	0	2	1	6	7			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:79968645C>T	ENST00000265081.6	+	6	1075	c.995C>T	c.(994-996)gCc>gTc	p.A332V		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	332					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)		AAATTGACTGCCCTTTATACA	0.383								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0													112	114	113					5																	79968645		2203	4300	6503	SO:0001583	missense	0			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.995C>T	5.37:g.79968645C>T	ENSP00000265081:p.Ala332Val		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.A332V	ENST00000265081.6	37	c.995	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681698	0.88542	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.89343	-2.5	5.43	5.43	0.79202	DNA mismatch repair protein MutS, N-terminal (2);DNA mismatch repair protein MutS-like, N-terminal (1);	0.059314	0.64402	D	0.000004	D	0.94231	0.8148	M	0.74647	2.275	0.47341	D	0.999397	D	0.89917	1.0	D	0.79784	0.993	D	0.93720	0.7032	9	.	.	.	-20.2349	18.856	0.92252	0.0:1.0:0.0:0.0	.	332	P20585	MSH3_HUMAN	V	332;323	ENSP00000265081:A332V	.	A	+	2	0	MSH3	80004401	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.355000	0.59424	2.548000	0.85928	0.591000	0.81541	GCC	MSH3	-	pfam_DNA_mismatch_repair_MutS-lik_N,superfamily_DNA_mismatch_repair_MutS_N	ENSG00000113318		0.383	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	-	0	70	0	C	NM_002439		79968645	1	tier1	-	no_errors	ENST00000265081	ensembl	human	known	74_37	missense	89.36	5	42	SNP	1.000	T	T	79968645	C	T	79968645	3	4	150	1	0	0	0	0	1	0	0	0	9909	739	26	3	1017	3	MSH3	5	79968645	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	4075310	79968645	100946615	77	38180											
KCNN2	3781	genome.wustl.edu	37	chr5	113740309	113740309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatccacaaccaccgctGatgtggatattattttatct	10	13	5	13	1	1	1	0	1	1	0	2	2	2	2	5	1	1	1	5	1	4	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:113740309G>T	ENST00000512097.3	+	4	1775	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.D253Y			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	253					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	AACCACCGCTGATGTGGATAT	0.438																																																	0													155	156	155					5																	113740309		2202	4300	6502	SO:0001583	missense	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.757G>T	5.37:g.113740309G>T	ENSP00000427120:p.Asp253Tyr		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.D253Y	ENST00000512097.3	37	c.757	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435462	0.62955	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98602	-5.02;-5.02	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.97579	0.9207	M	0.75447	2.3	0.80722	D	1	B	0.32620	0.378	B	0.33690	0.168	D	0.97712	1.0191	10	0.72032	D	0.01	-4.198	18.8127	0.92064	0.0:0.0:1.0:0.0	.	253	Q9H2S1	KCNN2_HUMAN	Y	253	ENSP00000427120:D253Y;ENSP00000264773:D253Y	ENSP00000264773:D253Y	D	+	1	0	KCNN2	113768208	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.667000	0.98616	2.536000	0.85505	0.561000	0.74099	GAT	KCNN2	-	NULL	ENSG00000080709		0.438	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2	-	0	60	0	G	NM_021614		113740309	1	tier1	-	no_errors	ENST00000264773	ensembl	human	known	74_37	missense	94.74	2	36	SNP	1.000	T	T	113740309	G	T	113740309	3	4	150	1	0	0	0	0	1	0	0	0	8106	1290	45	3	767	3	KCNN2	5	113740309	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	33771664	113740309	67174951	78	38181											
NEUROG1	4762	genome.wustl.edu	37	chr5	134871157	134871157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agcggacccgcgtccggccgCggcgccgccgcctctcctgc	2	4	14	21	9	1	0	0	0	1	0	3	1	2	1	7	3	2	0	7	3	0	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:134871157C>T	ENST00000314744.4	-	1	482	c.224G>A	c.(223-225)cGc>cAc	p.R75H		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	75					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)			CGTCCGGCCGCGGCGCCGCCG	0.751																																																	0													4	7	6					5																	134871157		1849	3721	5570	SO:0001583	missense	0			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.224G>A	5.37:g.134871157C>T	ENSP00000317580:p.Arg75His		Q5U0Q9|Q96HE1	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R75H	ENST00000314744.4	37	c.224	CCDS4187.1	5	.	.	.	.	.	.	.	.	.	.	c	17.96	3.516021	0.64634	.	.	ENSG00000181965	ENST00000314744	D	0.96334	-3.98	4.69	4.69	0.59074	.	0.000000	0.64402	U	0.000001	D	0.96420	0.8832	L	0.29908	0.895	0.43457	D	0.995654	D	0.89917	1.0	D	0.68621	0.959	D	0.96998	0.9727	10	0.51188	T	0.08	-0.613	17.5986	0.88020	0.0:1.0:0.0:0.0	.	75	Q92886	NGN1_HUMAN	H	75	ENSP00000317580:R75H	ENSP00000317580:R75H	R	-	2	0	NEUROG1	134899056	0.175000	0.23083	0.957000	0.39632	0.837000	0.47467	3.610000	0.54125	2.160000	0.67779	0.556000	0.70494	CGC	NEUROG1	-	NULL	ENSG00000181965		0.751	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG1	HGNC	protein_coding	OTTHUMT00000251192.1	-	0	23	0	C	NM_006161		134871157	-1	tier1	-	no_errors	ENST00000314744	ensembl	human	known	74_37	missense	100.00	0	19	SNP	0.573	T	T	134871157	C	T	134871157	3	4	150	1	0	0	0	0	1	0	0	0	10391	768	27	1	493	1	NEUROG1	5	134871157	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	21130848	134871157	46044103	79	38182											
PCDHA11	56138	genome.wustl.edu	37	chr5	140250534	140250534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattgcagccggcggcgggcGgctcgcgcatcccgttccgc	4	6	15	16	8	0	0	0	0	0	0	3	0	2	0	3	4	2	4	3	4	1	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:140250534G>A	ENST00000398640.2	+	1	1846	c.1846G>A	c.(1846-1848)Ggc>Agc	p.G616S	PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCGGGCGGCTCGCGCAT	0.667																																																	0													42	51	48					5																	140250534		2202	4299	6501	SO:0001583	missense	0			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.1846G>A	5.37:g.140250534G>A	ENSP00000381636:p.Gly616Ser		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G616S	ENST00000398640.2	37	c.1846	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.517379	0.00975	.	.	ENSG00000249158	ENST00000398640	T	0.52057	0.68	4.78	1.88	0.25563	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.23054	0.0557	N	0.11255	0.115	0.09310	N	1	B;B	0.26258	0.145;0.046	B;B	0.20767	0.031;0.025	T	0.23655	-1.0182	9	0.12430	T	0.62	.	7.11	0.25384	0.3967:0.0:0.6033:0.0	.	616;616	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	616	ENSP00000381636:G616S	ENSP00000381636:G616S	G	+	1	0	PCDHA11	140230718	0.047000	0.20315	0.000000	0.03702	0.001000	0.01503	1.160000	0.31761	0.073000	0.16731	-1.189000	0.01698	GGC	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.667	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0	138	0	G	NM_018902		140250534	1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	41.50	85	61	SNP	0.000	A	A	140250534	G	A	140250534	3	1	150	1	0	0	0	0	1	0	0	0	11560	1116	39	1	1848	1	PCDHA11	5	140250534	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	5379377	140250534	40664726	80	38183											
PCDHGB7	56099	genome.wustl.edu	37	chr5	140798649	140798649	+	Missense_Mutation	SNP	A	A	C	1	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	ctacaagctagtaacagatgAggccctggatcgggagcaga	13	6	13	9	1	0	3	0	1	0	2	1	5	0	5	1	3	4	3	1	3	4	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:140798649A>C	ENST00000398594.2	+	1	1223	c.1223A>C	c.(1222-1224)gAg>gCg	p.E408A	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	408	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAACAGATGAGGCCCTGGAT	0.488																																																	0													43	47	46					5																	140798649		2052	4178	6230	SO:0001583	missense	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1223A>C	5.37:g.140798649A>C	ENSP00000381594:p.Glu408Ala		Q9UN63	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E408A	ENST00000398594.2	37	c.1223	CCDS47293.1	5	.	.	.	.	.	.	.	.	.	.	a	3.744	-0.052959	0.07362	.	.	ENSG00000254122	ENST00000398594	T	0.52295	0.67	5.31	3.54	0.40534	Cadherin (4);Cadherin-like (1);	1.044460	0.07741	U	0.946986	T	0.27594	0.0678	N	0.03967	-0.31	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20773	-1.0265	10	0.31617	T	0.26	.	11.5918	0.50949	0.1435:0.0:0.8565:0.0	.	408;408	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	A	408	ENSP00000381594:E408A	ENSP00000381594:E408A	E	+	2	0	PCDHGB7	140778833	0.000000	0.05858	0.190000	0.23270	0.982000	0.71751	0.212000	0.17497	0.833000	0.34828	-0.232000	0.12228	GAG	PCDHGB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254122		0.488	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	-	0	25	0	A	NM_018927		140798649	1	tier1	-	no_errors	ENST00000398594	ensembl	human	known	74_37	missense	60.00	8	12	SNP	0.358	C	C	140798649	A	C	140798649	3	2	150	1	0	0	0	0	1	0	0	0	11607	304	11	4	1225	4	PCDHGB7	5	140798649	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	548115	140798649	40116611	81	38184											
RANBP17	64901	genome.wustl.edu	37	chr5	170345828	170345828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaatatcctgaagttattAgattgattgctaattttacc	13	16	7	5	0	0	3	0	2	0	1	1	4	1	4	2	1	2	2	2	1	7	8			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:170345828A>G	ENST00000523189.1	+	10	1230	c.1066A>G	c.(1066-1068)Aga>Gga	p.R356G		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	356					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)			TGAAGTTATTAGATTGATTGC	0.323			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													111	112	112					5																	170345828		2202	4298	6500	SO:0001583	missense	0			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.1066A>G	5.37:g.170345828A>G	ENSP00000427975:p.Arg356Gly		Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.R356G	ENST00000523189.1	37	c.1066	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	a	11.58	1.681824	0.29872	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.39406	1.08	5.74	4.59	0.56863	Armadillo-type fold (1);	0.084348	0.51477	N	0.000083	T	0.32346	0.0826	L	0.47190	1.495	0.32458	N	0.544474	B	0.02656	0.0	B	0.01281	0.0	T	0.35126	-0.9801	10	0.23891	T	0.37	-7.231	7.5625	0.27860	0.7816:0.142:0.0764:0.0	.	356	Q9H2T7	RBP17_HUMAN	G	356;252	ENSP00000427975:R356G	ENSP00000373770:R356G	R	+	1	2	RANBP17	170278433	0.995000	0.38212	1.000000	0.80357	0.990000	0.78478	1.875000	0.39578	1.017000	0.39495	0.402000	0.26972	AGA	RANBP17	-	superfamily_ARM-type_fold	ENSG00000204764		0.323	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	-	0	56	0	A	NM_022897		170345828	1	tier1	-	no_errors	ENST00000523189	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G	G	170345828	A	G	170345828	3	3	150	1	0	0	0	0	1	0	0	0	13072	412	15	4	1104	4	RANBP17	5	170345828	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	29547179	170345828	10569432	82	38185											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178581177	178581177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagcggttgccctgcccgtCgtgctccatgcccagcctgc	4	8	11	18	3	0	0	0	0	0	0	2	0	1	0	5	1	7	2	5	1	0	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:178581177C>T	ENST00000251582.7	-	8	1356	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D419N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	419	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)		CCCTGCCCGTCGTGCTCCATG	0.706																																																	0													12	11	11					5																	178581177		2189	4266	6455	SO:0001583	missense	0			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.1255G>A	5.37:g.178581177C>T	ENSP00000251582:p.Asp419Asn			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.D419N	ENST00000251582.7	37	c.1255	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.238722	0.95240	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.91295	-2.82;-2.82	4.81	4.81	0.61882	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.56097	D	0.000030	D	0.96700	0.8923	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.97917	1.0312	10	0.87932	D	0	.	17.2384	0.87006	0.0:1.0:0.0:0.0	.	419;419	O95450-2;O95450	.;ATS2_HUMAN	N	419	ENSP00000251582:D419N;ENSP00000274609:D419N	ENSP00000251582:D419N	D	-	1	0	ADAMTS2	178513783	1.000000	0.71417	0.346000	0.25655	0.978000	0.69477	7.569000	0.82380	2.369000	0.80426	0.655000	0.94253	GAC	ADAMTS2	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000087116		0.706	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0	21	0	C	NM_014244		178581177	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	missense	88.89	2	16	SNP	0.998	T	T	178581177	C	T	178581177	3	4	150	1	0	0	0	0	1	0	0	0	265	884	31	1	2515	1	ADAMTS2	5	178581177	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	8235349	178581177	2334083	83	38186											
DUSP22	56940	genome.wustl.edu	37	chr6	345905	345905	+	Silent	SNP	C	C	T	0	0	0	1	1	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	attcacgagtgccggctccgCggtgagagctgccttgtaca	7	9	13	12	4	1	1	1	1	0	1	2	3	2	1	3	2	4	3	3	2	1	3	rs144845390		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:345905C>T	ENST00000344450.5	+	5	683	c.240C>T	c.(238-240)cgC>cgT	p.R80R	DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000419235.2_Silent_p.R80R	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	80	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCCGGCTCCGCGGTGAGAGCT	0.438																																																	0								C		0,4406		0,0,2203	150	127	134		240	-8.2	0	6	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DUSP22	NM_020185.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		80/185	345905	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.240C>T	6.37:g.345905C>T			B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.R80	ENST00000344450.5	37	c.240	CCDS4468.1	6	.	.	.	.	.	.	.	.	.	.	C	1.478	-0.558087	0.03967	0.0	2.33E-4	ENSG00000112679	ENST00000419235	.	.	.	5.25	-8.23	0.01033	.	1.130420	0.06716	N	0.774021	T	0.32346	0.0826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54227	-0.8325	6	0.72032	D	0.01	.	2.3371	0.04251	0.3724:0.0884:0.3285:0.2107	.	.	.	.	W	18	.	ENSP00000397459:R18W	R	+	1	2	DUSP22	290905	0.004000	0.15560	0.000000	0.03702	0.111000	0.19643	-0.517000	0.06275	-1.947000	0.01034	-1.648000	0.00760	CGG	DUSP22	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000112679		0.438	DUSP22-001	KNOWN	basic|CCDS	protein_coding	DUSP22	HGNC	protein_coding	OTTHUMT00000039621.1	-	0	73	0	C	NM_020185		345905	1	tier1	rs144845390	no_errors	ENST00000419235	ensembl	human	known	74_37	silent	20.48	66	17	SNP	0.000	T	T	345905	C	T	345905	2	4	150	1	0	0	0	0	0	0	0	1	4835	755	27	1		1	DUSP22	6	345905	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09		345905	170769162	84	38187											
LY86	9450	genome.wustl.edu	37	chr6	6589069	6589069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacacacgtggtctgtagCgacagcggcttggaagtgct	8	8	13	12	3	1	0	0	0	1	0	1	2	1	1	1	3	3	3	1	3	2	2	rs144373281		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:6589069C>T	ENST00000379953.2	+	2	454	c.102C>T	c.(100-102)agC>agT	p.S34S	LY86_ENST00000230568.4_Silent_p.S34S|LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000447858.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	34					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TGGTCTGTAGCGACAGCGGCT	0.567																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	89	84	86		102	-1.3	0	6	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	LY86	NM_004271.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		34/163	6589069	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.102C>T	6.37:g.6589069C>T			Q9UQC4	Silent	SNP	pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom	p.S34	ENST00000379953.2	37	c.102	CCDS4498.1	6																																																																																			LY86	-	NULL	ENSG00000112799		0.567	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY86	HGNC	protein_coding	OTTHUMT00000039762.2	-	0	61	0	C			6589069	1	tier1	rs144373281	no_errors	ENST00000230568	ensembl	human	known	74_37	silent	32.69	35	17	SNP	0.001	T	T	6589069	C	T	6589069	2	4	150	1	0	0	0	0	0	0	0	1	9136	767	27	1		1	LY86	6	6589069	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	6243164	6589069	164525998	85	38188											
MUTED	63915	genome.wustl.edu	37	chr6	8026623	8026623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcgttcctgttccctctGttggagtctacagactgagt	5	17	9	10	1	2	2	0	1	2	1	5	3	4	3	2	1	1	3	2	1	1	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:8026623G>T	ENST00000397457.2	-	4	398	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	EEF1E1-BLOC1S5_ENST00000397456.2_3'UTR|BLOC1S5-TXNDC5_ENST00000439343.2_Missense_Mutation_p.Q117K|BLOC1S5_ENST00000543936.1_Missense_Mutation_p.Q57K|TXNDC5_ENST00000539054.1_Missense_Mutation_p.N8K	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1	Q8TDH9	BL1S5_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 5, muted	121					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuron projection development (GO:0031175)|otolith morphogenesis (GO:0032474)|positive regulation of pigment cell differentiation (GO:0050942)	BLOC-1 complex (GO:0031083)|transport vesicle (GO:0030133)											TGTTCCCTCTGTTGGAGTCTA	0.373																																																	0													187	164	172					6																	8026623		2203	4300	6503	SO:0001583	missense	0			AF426434	CCDS4506.1, CCDS75394.1	6p25.1-p24.3	2012-08-01	2012-08-01	2012-08-01		ENSG00000188428		"Biogenesis of lysosomal organelles complex-1 subunits"	18561	protein-coding gene	gene with protein product		607289	"muted homolog (mouse)"	MUTED		11912185	Standard	NM_001199322		Approved	MU, dJ303A1.3		Q8TDH9	OTTHUMG00000014220	ENST00000397457.2:c.361C>A	6.37:g.8026623G>T	ENSP00000380598:p.Gln121Lys		B4DVM2|Q0VDJ6|Q0VDJ7|Q5THS1|Q68D56|Q8N5F9|Q9NU16	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.N8K	ENST00000397457.2	37	c.24	CCDS4506.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.52|17.52	3.409375|3.409375	0.62399|0.62399	.|.	.|.	ENSG00000239264|ENSG00000188428	ENST00000539054|ENST00000397457;ENST00000543936	T|.	0.03413|.	3.94|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|.	.|.	.|.	.|.	T|T	0.51924|0.51924	0.1703|0.1703	.|.	.|.	.|.	0.42803|0.42803	D|D	0.99393|0.99393	B|P;D	0.17465|0.55605	0.022|0.587;0.972	B|B;P	0.11329|0.48840	0.006|0.104;0.592	T|T	0.55302|0.55302	-0.8162|-0.8162	7|7	.|0.46703	.|T	.|0.11	.|.	14.462|14.462	0.67456|0.67456	0.0:0.1577:0.8423:0.0|0.0:0.1577:0.8423:0.0	.|.	8|57;121	Q86UY0|Q0VDJ6;Q8TDH9	.|.;MUTED_HUMAN	K|K	8|121;57	ENSP00000442453:N8K|.	.|ENSP00000380598:Q121K	N|Q	-|-	3|1	2|0	TXNDC5|MUTED	7971622|7971622	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.966000|0.966000	0.64601|0.64601	2.755000|2.755000	0.47540|0.47540	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	AAC|CAG	TXNDC5	-	NULL	ENSG00000239264		0.373	BLOC1S5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039797.2	-	0	54	0	G	NM_201280		8026623	-1	tier1	-	no_errors	ENST00000539054	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.998	T	T	8026623	G	T	8026623	3	4	150	1	0	0	0	0	1	0	0	0	10030	1386	48	3	210	3	MUTED	6	8026623	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	1437554	8026623	163088444	86	38189											
KIAA0319	9856	genome.wustl.edu	37	chr6	24566864	24566864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccggatccacagataGgacacaattctttggtcatc	11	10	7	13	1	2	1	1	0	1	1	5	3	4	3	3	3	0	0	3	3	2	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:24566864G>A	ENST00000378214.3	-	14	2777	c.2253C>T	c.(2251-2253)tcC>tcT	p.S751S	KIAA0319_ENST00000537886.1_Silent_p.S751S|KIAA0319_ENST00000430948.2_Silent_p.S706S|KIAA0319_ENST00000543707.1_Silent_p.S751S|KIAA0319_ENST00000535378.1_Silent_p.S742S	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	751	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCCACAGATAGGACACAATTC	0.483																																																	0													108	104	105					6																	24566864		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2253C>T	6.37:g.24566864G>A			A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.S751	ENST00000378214.3	37	c.2253	CCDS34348.1	6																																																																																			KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom	ENSG00000137261		0.483	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1		0	30	0	G	NM_014809		24566864	-1			no_errors	ENST00000378214	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	A	A	24566864	G	A	24566864	2	1	150	1	0	0	0	0	0	0	0	1	8195	987	35	3		3	KIAA0319	6	24566864	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	16540241	24566864	146548203	87	38190											
KIAA0319	9856	genome.wustl.edu	37	chr6	24596453	24596453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtactcagacatctcctctAggccccaatctttgcctaga	10	11	6	14	0	4	2	1	0	3	2	5	2	4	2	4	1	2	1	4	1	4	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:24596453A>G	ENST00000378214.3	-	3	973	c.449T>C	c.(448-450)cTa>cCa	p.L150P	KIAA0319_ENST00000537886.1_Missense_Mutation_p.L150P|KIAA0319_ENST00000430948.2_Missense_Mutation_p.L105P|KIAA0319_ENST00000543707.1_Missense_Mutation_p.L150P|KIAA0319_ENST00000535378.1_Missense_Mutation_p.L141P	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	150					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						CATCTCCTCTAGGCCCCAATC	0.577																																																	0													80	85	83					6																	24596453		2203	4300	6503	SO:0001583	missense	0			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.449T>C	6.37:g.24596453A>G	ENSP00000367459:p.Leu150Pro		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.L150P	ENST00000378214.3	37	c.449	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	A	0.819	-0.749440	0.03065	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.08282	3.11;3.12;3.12;3.11;3.11	4.43	-0.864	0.10666	.	0.611469	0.13113	N	0.412849	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.14438	0.01;0.004;0.002	B;B;B	0.15484	0.013;0.004;0.003	T	0.47535	-0.9110	10	0.22109	T	0.4	-0.0901	4.0493	0.09788	0.5795:0.0:0.267:0.1535	.	150;141;150	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	P	150;141;105;150;150	ENSP00000439700:L150P;ENSP00000442403:L141P;ENSP00000401086:L105P;ENSP00000367459:L150P;ENSP00000437656:L150P	ENSP00000367459:L150P	L	-	2	0	KIAA0319	24704432	0.000000	0.05858	0.003000	0.11579	0.041000	0.13682	0.776000	0.26704	-0.166000	0.10890	0.421000	0.28195	CTA	KIAA0319	-	NULL	ENSG00000137261		0.577	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1		0	30	0	A	NM_014809		24596453	-1			no_errors	ENST00000378214	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.000	G	G	24596453	A	G	24596453	3	3	150	1	0	0	0	0	1	0	0	0	8195	420	15	4	2845	4	KIAA0319	6	24596453	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	29589	24596453	146518614	88	38191											
HIST1H2AE	3012	genome.wustl.edu	37	chr6	26217425	26217427	+	In_Frame_Del	DEL	AAG	AAG	-																															gcaacgcggctcgcgacaatAagaagacccgcatcatcccg																								rs563842312	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:26217425_26217427delAAG	ENST00000303910.2	+	1	261_263	c.223_225delAAG	c.(223-225)aagdel	p.K76del	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	76						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K75N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TCGCGACAATAAGAAGACCCGCA	0.621																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	0			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.223_225delAAG	6.37:g.26217428_26217430delAAG	ENSP00000303373:p.Lys76del		P28001|Q76P63	In_Frame_Del	DEL	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K76in_frame_del	ENST00000303910.2	37	c.223_225	CCDS4595.1	6																																																																																			HIST1H2AE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000168274		0.621	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AE	HGNC	protein_coding	OTTHUMT00000040103.1		0	121	0	AAG	NM_021052		26217427	1	tier1		no_errors	ENST00000303910	ensembl	human	known	74_37	in_frame_del	22.63	106	31	DEL	1.000:1.000:1.000	-	-	26217427	AAG	-	26217425	7	5	150	1	0	1	0	1	0	0	0	0	7159	363	13	0	225	0	HIST1H2AE	6	26217425	In_Frame_Del	DEL	AAG	TCGA-R6-A8WC-01A-11D-A37C-09	1620972	26217425	144897642	89	38192											
ZKSCAN3	80317	genome.wustl.edu	37	chr6	28334042	28334042	+	Frame_Shift_Del	DEL	A	A	-																															atcagagaagccatgtagggAaaaacatcctatcacagtga																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:28334042delA	ENST00000377255.3	+	7	1894	c.1597delA	c.(1597-1599)aaafs	p.K533fs	ZKSCAN3_ENST00000341464.5_Frame_Shift_Del_p.K385fs|ZKSCAN3_ENST00000252211.2_Frame_Shift_Del_p.K533fs	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	533					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CCATGTAGGGAAAAACATCCT	0.448																																																	0													105	104	104					6																	28334042		2203	4300	6503	SO:0001589	frameshift_variant	0			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1597delA	6.37:g.28334042delA	ENSP00000366465:p.Lys533fs		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Frame_Shift_Del	DEL	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.N534fs	ENST00000377255.3	37	c.1597	CCDS4650.1	6																																																																																			ZKSCAN3	-	pfscan_Znf_C2H2	ENSG00000189298		0.448	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN3	HGNC	protein_coding	OTTHUMT00000040189.3		0	30	0	A	NM_024493		28334042	1	tier1		no_errors	ENST00000252211	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.206	-	-	28334042	A	-	28334042	7	5	150	1	0	1	0	1	0	0	0	0	17736	247	9	0	1615	0	ZKSCAN3	6	28334042	Frame_Shift_Del	DEL	A	TCGA-R6-A8WC-01A-11D-A37C-09	2116617	28334042	142781025	90	38193											
ZBTB22	9278	genome.wustl.edu	37	chr6	33284640	33284640	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtagtgggggcggagccagCgacagcggcaggggaagtgc	8	3	22	8	3	0	0	0	0	0	0	0	3	0	2	1	7	4	2	1	7	2	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:33284640C>A	ENST00000431845.2	-	2	205	c.54G>T	c.(52-54)tcG>tcT	p.S18S	TAPBP_ENST00000489157.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|TAPBP_ENST00000475304.1_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.S18S|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	18					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCGGAGCCAGCGACAGCGGCA	0.627																																																	0													27	31	30					6																	33284640		2203	4297	6500	SO:0001819	synonymous_variant	0			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.54G>T	6.37:g.33284640C>A			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S18	ENST00000431845.2	37	c.54	CCDS4775.1	6																																																																																			ZBTB22	-	NULL	ENSG00000236104		0.627	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	-	0	26	0	C			33284640	-1	tier1	-	no_errors	ENST00000418724	ensembl	human	known	74_37	silent	15.15	28	5	SNP	0.138	A	A	33284640	C	A	33284640	2	1	150	1	0	0	0	0	0	0	0	1	17578	755	27	2		2	ZBTB22	6	33284640	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	4950598	33284640	137830427	91	38194											
ITPR3	3710	genome.wustl.edu	37	chr6	33646233	33646233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggagatcctgcgctacacGcaccagttcctgcagaagtt	10	9	10	12	2	0	2	0	0	0	2	2	3	2	2	3	1	3	5	3	1	2	3	rs543118868		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:33646233G>A	ENST00000374316.5	+	30	4744	c.3684G>A	c.(3682-3684)acG>acA	p.T1228T	ITPR3_ENST00000605930.1_Silent_p.T1228T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1228					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)	TGCGCTACACGCACCAGTTCC	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		13722	0		0	False		,,,				2504	0																0													83	75	78					6																	33646233		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3684G>A	6.37:g.33646233G>A			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.T1228	ENST00000374316.5	37	c.3684	CCDS4783.1	6																																																																																			ITPR3	-	pfam_Ca-rel_channel	ENSG00000096433		0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	-	0	37	0	G	NM_002224		33646233	1	tier1	-	no_errors	ENST00000374316	ensembl	human	known	74_37	silent	36.11	23	13	SNP	0.002	A	A	33646233	G	A	33646233	2	1	150	1	0	0	0	0	0	0	0	1	7949	1074	38	1		1	ITPR3	6	33646233	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	361593	33646233	137468834	92	38195											
CPNE5	57699	genome.wustl.edu	37	chr6	36762394	36762394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acacagctggcatgggtttgCccgtcctggaattcaggctg	7	10	13	11	1	1	0	1	0	0	0	2	1	2	1	2	4	2	4	2	4	1	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:36762394C>T	ENST00000244751.2	-	7	1061	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	146						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						CATGGGTTTGCCCGTCCTGGA	0.597																																																	0													111	83	92					6																	36762394		2203	4300	6503	SO:0001583	missense	0			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.437G>A	6.37:g.36762394C>T	ENSP00000244751:p.Gly146Asp		Q7Z6C8	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.G146D	ENST00000244751.2	37	c.437	CCDS4825.1	6	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918924	0.52546	.	.	ENSG00000124772	ENST00000244751	T	0.05513	3.43	4.78	4.78	0.61160	.	0.168022	0.36778	N	0.002419	T	0.01523	0.0049	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45571	-0.9252	10	0.72032	D	0.01	.	13.1814	0.59657	0.0:1.0:0.0:0.0	.	146	Q9HCH3	CPNE5_HUMAN	D	146	ENSP00000244751:G146D	ENSP00000244751:G146D	G	-	2	0	CPNE5	36870372	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.680000	0.54641	2.477000	0.83638	0.655000	0.94253	GGC	CPNE5	-	NULL	ENSG00000124772		0.597	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE5	HGNC	protein_coding	OTTHUMT00000040351.1	-	0	39	0	C	NM_020939		36762394	-1	tier1	-	no_errors	ENST00000244751	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	36762394	C	T	36762394	3	4	150	1	0	0	0	0	1	0	0	0	3822	739	26	3	1404	3	CPNE5	6	36762394	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	3116161	36762394	134352673	93	38196											
MOCS1	4337	genome.wustl.edu	37	chr6	39880077	39880077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgctcagacatggatgtGatgaagctgatctggccttg	11	11	12	7	0	2	4	1	3	1	1	2	5	2	5	1	2	2	2	1	2	2	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:39880077G>C	ENST00000340692.5	-	8	915	c.912C>G	c.(910-912)atC>atG	p.I304M	MOCS1_ENST00000432280.2_Missense_Mutation_p.I275M|MOCS1_ENST00000425303.2_Missense_Mutation_p.I304M|MOCS1_ENST00000308559.7_Missense_Mutation_p.I304M|MOCS1_ENST00000373188.2_Missense_Mutation_p.I304M|MOCS1_ENST00000373175.4_Missense_Mutation_p.I275M|MOCS1_ENST00000373186.4_Missense_Mutation_p.I304M|MOCS1_ENST00000373195.3_Missense_Mutation_p.I217M			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	304	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACATGGATGTGATGAAGCTGA	0.577																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													138	129	132					6																	39880077		2203	4300	6503	SO:0001583	missense	0			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.912C>G	6.37:g.39880077G>C	ENSP00000344794:p.Ile304Met		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.I304M	ENST00000340692.5	37	c.912		6	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443178	0.63067	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000341481;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.16	4.28	0.50868	Molybdenum cofactor synthesis C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	H	0.99980	5.19	0.53688	D	0.999972	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.995;0.999;0.998;0.995	D	0.98288	1.0512	9	.	.	.	-26.7806	13.7137	0.62682	0.0772:0.0:0.9228:0.0	.	304;304;304;304;304	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	M	304;304;275;304;217;56;304;304;275	ENSP00000362282:I304M;ENSP00000309843:I304M;ENSP00000362270:I275M;ENSP00000362284:I304M;ENSP00000362291:I217M;ENSP00000344794:I304M;ENSP00000416478:I304M;ENSP00000410809:I275M	.	I	-	3	3	MOCS1	39988055	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.411000	0.44600	2.407000	0.81776	0.491000	0.48974	ATC	MOCS1	-	pfam_Mob_synth_C,tigrfam_MoaA	ENSG00000124615		0.577	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	-	0	65	0	G	NM_005943		39880077	-1	tier1	-	no_errors	ENST00000340692	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	C	C	39880077	G	C	39880077	3	2	150	1	0	0	0	0	1	0	0	0	9728	1280	45	5	257	5	MOCS1	6	39880077	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	3117683	39880077	131234990	94	38197											
KIAA0240	23506	genome.wustl.edu	37	chr6	42832452	42832452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgataaagctgctcatgaGacacagtttggccggagtga	11	10	12	8	1	1	3	1	3	0	1	1	5	1	4	1	2	2	3	1	2	2	3	rs548782383		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:42832452G>A	ENST00000314073.5	+	13	2684	c.2508G>A	c.(2506-2508)gaG>gaA	p.E836E	GLTSCR1L_ENST00000394168.1_Silent_p.E836E			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	836																	CTGCTCATGAGACACAGTTTG	0.502													G|||	1	0.000199681	8e-04	0	5008	,	,		21217	0		0	False		,,,				2504	0																0													125	115	119					6																	42832452		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2508G>A	6.37:g.42832452G>A			A1L3W2|Q5TFZ3|Q92514	Silent	SNP	NULL	p.E836	ENST00000314073.5	37	c.2508	CCDS34451.1	6																																																																																			GLTSCR1L	-	NULL	ENSG00000112624		0.502	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1L	HGNC	protein_coding	OTTHUMT00000040562.3	-	0	44	0	G	NM_015349		42832452	1	tier1	-	no_errors	ENST00000314073	ensembl	human	known	74_37	silent	32.20	40	19	SNP	0.993	A	A	42832452	G	A	42832452	2	1	150	1	0	0	0	0	0	0	0	1	8191	933	33	3		3	KIAA0240	6	42832452	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	2952375	42832452	128282615	95	38198											
TMEM63B	55362	genome.wustl.edu	37	chr6	44108077	44108077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagacacacctccaagatgCgctacaaggaggatgatctg	13	7	11	10	1	1	3	0	1	1	2	2	5	2	5	2	2	2	2	2	2	4	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:44108077C>T	ENST00000259746.9	+	9	874	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Missense_Mutation_p.R231C			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	231					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.R231C(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTCCAAGATGCGCTACAAGGA	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											115	83	94					6																	44108077		2202	4300	6502	SO:0001583	missense	0			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.691C>T	6.37:g.44108077C>T	ENSP00000259746:p.Arg231Cys		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.R231C	ENST00000259746.9	37	c.691	CCDS34461.1	6	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644971	0.87859	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.37915	1.17;1.17	4.45	4.45	0.53987	.	0.053599	0.85682	D	0.000000	T	0.39708	0.1088	L	0.50333	1.59	0.80722	D	1	P;D;D	0.76494	0.917;0.998;0.999	P;P;P	0.56700	0.707;0.696;0.804	T	0.37079	-0.9721	10	0.72032	D	0.01	.	16.264	0.82565	0.0:1.0:0.0:0.0	.	231;231;231	Q5T3F8-3;Q5T3F8;Q5T3F8-2	.;TM63B_HUMAN;.	C	231	ENSP00000259746:R231C;ENSP00000327154:R231C	ENSP00000259746:R231C	R	+	1	0	TMEM63B	44216055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.650000	0.61440	2.317000	0.78254	0.561000	0.74099	CGC	TMEM63B	-	NULL	ENSG00000137216		0.587	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2		0	41	0	C	XM_166410		44108077	1			no_errors	ENST00000259746	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	44108077	C	T	44108077	3	4	150	1	0	0	0	0	1	0	0	0	16238	768	27	1	721	1	TMEM63B	6	44108077	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	1275625	44108077	127006990	96	38199											
AARS2	57505	genome.wustl.edu	37	chr6	44274734	44274734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagatctccatggagaaacGcacagctcgacgcaggatcc	13	6	10	12	3	1	2	0	0	1	2	4	5	2	3	2	2	2	3	2	2	2	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:44274734G>T	ENST00000244571.4	-	7	1077	c.1075C>A	c.(1075-1077)Cgt>Agt	p.R359S	RP11-444E17.6_ENST00000505802.1_Missense_Mutation_p.R123L|TMEM151B_ENST00000438774.2_Missense_Mutation_p.A211S	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)			ATGGAGAAACGCACAGCTCGA	0.547																																																	0													90	83	85					6																	44274734		2203	4300	6503	SO:0001583	missense	0			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.1075C>A	6.37:g.44274734G>T	ENSP00000244571:p.Arg359Ser			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.R359S	ENST00000244571.4	37	c.1075	CCDS34464.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.03|16.03	3.007217|3.007217	0.54361|0.54361	.|.	.|.	ENSG00000178233|ENSG00000124608	ENST00000438774;ENST00000430110|ENST00000244571	.|T	.|0.77750	.|-1.12	4.42|4.42	4.42|4.42	0.53409|0.53409	.|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);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88890|0.88890	0.6560|0.6560	M|M	0.90650|0.90650	3.135|3.135	0.80722|0.80722	D|D	1|1	B|D	0.20052|0.89917	0.041|1.0	B|D	0.19148|0.91635	0.024|0.999	D|D	0.91396|0.91396	0.5139|0.5139	8|10	0.87932|0.87932	D|D	0|0	-29.0678|-29.0678	17.2057|17.2057	0.86917|0.86917	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	211|359	Q8IW70-2|Q5JTZ9	.|SYAM_HUMAN	S|S	211|359	.|ENSP00000244571:R359S	ENSP00000410997:A211S|ENSP00000244571:R359S	A|R	+|-	1|1	0|0	TMEM151B|AARS2	44382712|44382712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.257000|0.257000	0.26127|0.26127	5.721000|5.721000	0.68477|0.68477	2.283000|2.283000	0.76528|0.76528	0.462000|0.462000	0.41574|0.41574	GCA|CGT	AARS2	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000124608		0.547	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2		0	56	0	G	NM_020745		44274734	-1			no_errors	ENST00000244571	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	44274734	G	T	44274734	3	4	150	1	0	0	0	0	1	0	0	0	20	1087	38	2	1946	2	AARS2	6	44274734	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	166657	44274734	126840333	97	38200											
PRIM2	5558	genome.wustl.edu	37	chr6	57498976	57498976	+	3'UTR	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcattttagattttggatTtagtaaaggggacacattac	13	16	8	4	0	1	1	1	0	0	1	1	3	1	3	0	3	1	1	0	3	5	9			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:57498976T>G	ENST00000389488.2	+	0	1327				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GATTTTGGATTTAGTAAAGGG	0.289																																																	0													77	70	73					6																	57498976		1833	4083	5916	SO:0001624	3_prime_UTR_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1324T>G	6.37:g.57498976T>G			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.289	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	-	0	141	0	T	NM_000947		57498976	1	tier1	-	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	10.86	156	19	SNP	0.965	G	G	57498976	T	G	57498976	1	3	150	0	1	0	0	0	0	0	0	0	12533	1838	64	4		4	PRIM2	6	57498976	3'UTR	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	13224242	57498976	113616091	98	38201											
COL12A1	1303	genome.wustl.edu	37	chr6	75831041	75831041	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcccagcaggactgatttCatcaaagcctcccacagtat	13	9	6	13	0	2	1	2	1	0	0	4	2	4	2	3	1	2	2	3	1	3	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:75831041C>A	ENST00000322507.8	-	44	7372	c.7063G>T	c.(7063-7065)Gaa>Taa	p.E2355*	COL12A1_ENST00000345356.6_Nonsense_Mutation_p.E1191*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.E2355*|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.E2355*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2355	VWFA 4. {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						GGACTGATTTCATCAAAGCCT	0.408																																																	0													87	86	87					6																	75831041		1927	4123	6050	SO:0001587	stop_gained	0			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.7063G>T	6.37:g.75831041C>A	ENSP00000325146:p.Glu2355*		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.E2355*	ENST00000322507.8	37	c.7063	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	48	13.899233	0.99769	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.	.	.	5.76	4.88	0.63580	.	0.257228	0.32852	N	0.005577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	10.0029	0.41940	0.165:0.679:0.156:0.0	.	.	.	.	X	2355;2355;1191;2355;2355	.	ENSP00000325146:E2355X	E	-	1	0	COL12A1	75887761	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.163000	0.42377	2.718000	0.92993	0.655000	0.94253	GAA	COL12A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000111799		0.408	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	68	0	C	NM_004370		75831041	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	nonsense	28.92	59	24	SNP	0.997	A	A	75831041	C	A	75831041	4	1	150	1	0	0	0	0	0	1	0	0	3676	835	29	3	2220	3	COL12A1	6	75831041	Nonsense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	18332065	75831041	95284026	99	38202											
SOBP	55084	genome.wustl.edu	37	chr6	107955278	107955278	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagcagatccgcccgccCttcatccgcgggcctccgca	6	6	10	19	5	1	1	1	0	0	1	4	1	4	1	6	1	2	3	6	1	0	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:107955278C>T	ENST00000317357.5	+	6	1889	c.1230C>T	c.(1228-1230)ccC>ccT	p.P410P		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCCGCCCGCCCTTCATCCGCG	0.701																																																	0													57	67	64					6																	107955278		2006	4169	6175	SO:0001819	synonymous_variant	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1230C>T	6.37:g.107955278C>T				Silent	SNP	NULL	p.P410	ENST00000317357.5	37	c.1230	CCDS43488.1	6																																																																																			SOBP	-	NULL	ENSG00000112320		0.701	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	-	0	40	0	C	NM_018013		107955278	1	tier1	-	no_errors	ENST00000317357	ensembl	human	known	74_37	silent	50.00	12	12	SNP	1.000	T	T	107955278	C	T	107955278	2	4	150	1	0	0	0	0	0	0	0	1	14957	668	24	3		3	SOBP	6	107955278	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	32124237	107955278	63159789	100	38203											
SGK1	6446	genome.wustl.edu	37	chr6	134493863	134493863	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatttcagcagcatagaaaCgagcccgtggttccaggaag	12	8	11	10	2	1	1	1	0	0	1	2	3	2	2	2	2	4	3	2	2	4	4	rs368296582		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:134493863C>G	ENST00000237305.7	-	7	687	c.599G>C	c.(598-600)cGt>cCt	p.R200P	SGK1_ENST00000475719.2_Missense_Mutation_p.R156P|SGK1_ENST00000528577.1_Missense_Mutation_p.R228P|SGK1_ENST00000367857.5_Missense_Mutation_p.R190P|SGK1_ENST00000413996.3_Missense_Mutation_p.R214P|SGK1_ENST00000367858.5_Missense_Mutation_p.R295P|SGK1_ENST00000489458.2_5'UTR	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		AGCATAGAAACGAGCCCGTGG	0.468																																																	0													75	66	69					6																	134493863		2203	4300	6503	SO:0001583	missense	0			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.599G>C	6.37:g.134493863C>G	ENSP00000237305:p.Arg200Pro		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.R295P	ENST00000237305.7	37	c.884	CCDS5170.1	6	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014368	0.93404	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.27256	2.99;2.99;2.99;2.99;2.99;1.68	6.03	5.16	0.70880	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045168	0.85682	D	0.000000	T	0.46347	0.1388	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.99;1.0;0.992;0.982;0.996;0.997	T	0.56884	-0.7905	10	0.87932	D	0	.	15.1765	0.72916	0.0:0.9327:0.0:0.0673	.	228;214;156;190;295;200	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	P	295;214;200;190;228;156	ENSP00000356832:R295P;ENSP00000396242:R214P;ENSP00000237305:R200P;ENSP00000356831:R190P;ENSP00000434450:R228P;ENSP00000434302:R156P	ENSP00000237305:R200P	R	-	2	0	SGK1	134535556	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	7.818000	0.86416	1.547000	0.49401	0.655000	0.94253	CGT	SGK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000118515		0.468	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK1	HGNC	protein_coding	OTTHUMT00000042312.2	-	0	37	0	C			134493863	-1	tier1	-	no_errors	ENST00000367858	ensembl	human	known	74_37	missense	57.89	16	22	SNP	1.000	G	G	134493863	C	G	134493863	3	3	150	1	0	0	0	0	1	0	0	0	14252	536	19	5	720	5	SGK1	6	134493863	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	26538585	134493863	36621204	101	38204											
GRM1	2911	genome.wustl.edu	37	chr6	146755745	146755745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggaggaggaggacctgcaggCggccagcaaactgaccccgg	10	2	17	12	2	0	1	0	1	0	0	0	5	0	5	4	7	3	2	4	7	1	0	rs377413746		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:146755745C>T	ENST00000282753.1	+	8	3633	c.3398C>T	c.(3397-3399)gCg>gTg	p.A1133V	GRM1_ENST00000361719.2_Missense_Mutation_p.A1133V|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1133					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)		GACCTGCAGGCGGCCAGCAAA	0.642																																																	0								C	VAL/ALA,	1,4403	2.1+/-5.4	0,1,2201	50	55	53		3398,	3.8	0	6		53	0,8600		0,0,4300	no	missense,utr-3	GRM1	NM_000838.3,NM_001114329.1	64,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,	1133/1195,	146755745	1,13003	2202	4300	6502	SO:0001583	missense	0			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.3398C>T	6.37:g.146755745C>T	ENSP00000282753:p.Ala1133Val		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.A1133V	ENST00000282753.1	37	c.3398	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916737	0.33815	2.27E-4	0.0	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.89196	-2.48;-2.48	4.72	3.85	0.44370	.	0.947938	0.08746	N	0.899819	T	0.76870	0.4048	L	0.43152	1.355	0.80722	D	1	D	0.57899	0.981	B	0.40256	0.324	T	0.70791	-0.4776	10	0.29301	T	0.29	.	11.3058	0.49334	0.0:0.9154:0.0:0.0846	.	1133	Q13255	GRM1_HUMAN	V	1133	ENSP00000354896:A1133V;ENSP00000282753:A1133V	ENSP00000282753:A1133V	A	+	2	0	GRM1	146797438	0.101000	0.21875	0.047000	0.18901	0.982000	0.71751	0.645000	0.24782	1.239000	0.43787	0.655000	0.94253	GCG	GRM1	-	NULL	ENSG00000152822		0.642	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0	41	0	C	NM_000838		146755745	1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	50.00	7	7	SNP	0.546	T	T	146755745	C	T	146755745	3	4	150	1	0	0	0	0	1	0	0	0	6823	768	27	1	3493	1	GRM1	6	146755745	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	12261882	146755745	24359322	102	38205											
MYCT1	80177	genome.wustl.edu	37	chr6	153042927	153042927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaatcgggctggtacttGgaggatttatttgggctgtg	6	14	16	5	1	0	0	0	0	0	0	1	2	0	2	0	6	1	4	0	6	3	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:153042927G>A	ENST00000367245.5	+	2	255	c.247G>A	c.(247-249)Gga>Aga	p.G83R	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	83						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GCTGGTACTTGGAGGATTTAT	0.408																																																	0													157	142	147					6																	153042927		2203	4300	6503	SO:0001583	missense	0			AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.247G>A	6.37:g.153042927G>A	ENSP00000356214:p.Gly83Arg		Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	NULL	p.G83R	ENST00000367245.5	37	c.247	CCDS5239.1	6	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950953	0.92660	.	.	ENSG00000120279	ENST00000367245	T	0.63913	-0.07	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.77592	0.4153	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78917	-0.2015	10	0.87932	D	0	-21.3901	19.99	0.97362	0.0:0.0:1.0:0.0	.	35;83	D6Q1S4;Q8N699	.;MYCT1_HUMAN	R	83	ENSP00000356214:G83R	ENSP00000356214:G83R	G	+	1	0	MYCT1	153084620	1.000000	0.71417	0.958000	0.39756	0.968000	0.65278	6.281000	0.72632	2.723000	0.93209	0.573000	0.79308	GGA	MYCT1	-	NULL	ENSG00000120279		0.408	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCT1	HGNC	protein_coding	OTTHUMT00000042750.2	-	0	54	0	G	NM_025107		153042927	1	tier1	-	no_errors	ENST00000367245	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	A	A	153042927	G	A	153042927	3	1	150	1	0	0	0	0	1	0	0	0	10060	1349	47	3	253	3	MYCT1	6	153042927	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	6287182	153042927	18072140	103	38206											
FNDC1	84624	genome.wustl.edu	37	chr6	159653833	159653833	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gcgccatcacggtccaccatGtcctcctccgtctcttctca	5	11	6	19	3	3	0	2	0	2	0	9	0	7	0	6	1	0	0	6	1	0	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:159653833G>A	ENST00000297267.9	+	11	2489	c.2289G>A	c.(2287-2289)atG>atA	p.M763I	FNDC1_ENST00000340366.6_Missense_Mutation_p.M700I	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	763	Ser-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)		GGTCCACCATGTCCTCCTCCG	0.617																																																	0													40	43	42					6																	159653833		2144	4243	6387	SO:0001583	missense	0			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.2289G>A	6.37:g.159653833G>A	ENSP00000297267:p.Met763Ile		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.M763I	ENST00000297267.9	37	c.2289	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.387|8.387	0.838751|0.838751	0.16891|0.16891	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.06449|.	3.3;4.12|.	4.31|4.31	-0.0411|-0.0411	0.13869|0.13869	.|.	4.029100|.	0.00481|.	N|.	0.000125|.	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.08055|.	0.003;0.001|.	T|T	0.39522|0.39522	-0.9610|-0.9610	10|5	0.36615|.	T|.	0.2|.	0.615|0.615	0.5875|0.5875	0.00722|0.00722	0.2405:0.1763:0.3768:0.2064|0.2405:0.1763:0.3768:0.2064	.|.	700;763|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	I|I	763;700|659	ENSP00000297267:M763I;ENSP00000342460:M700I|.	ENSP00000297267:M763I|.	M|V	+|+	3|1	0|0	FNDC1|FNDC1	159573823|159573823	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	-0.601000|-0.601000	0.05687|0.05687	0.282000|0.282000	0.22254|0.22254	0.655000|0.655000	0.94253|0.94253	ATG|GTC	FNDC1	-	NULL	ENSG00000164694		0.617	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	-	0	71	0	G	NM_032532		159653833	1	tier1	-	no_errors	ENST00000297267	ensembl	human	known	74_37	missense	45.45	22	20	SNP	0.001	A	A	159653833	G	A	159653833	3	1	150	1	0	0	0	0	1	0	0	0	5990	1377	48	3	2331	3	FNDC1	6	159653833	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	6610906	159653833	11461234	104	38207											
RADIL	55698	genome.wustl.edu	37	chr7	4841406	4841406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcagggccaagtggagtgCtgggaggcgtgagcaagcag	9	5	19	8	1	1	1	1	1	0	0	1	3	1	3	1	4	3	4	1	4	2	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:4841406C>A	ENST00000399583.3	-	12	2907	c.2720G>T	c.(2719-2721)aGc>aTc	p.S907I	RADIL_ENST00000538469.1_Missense_Mutation_p.S667I|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	907	Pro-rich.				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)		AAGTGGAGTGCTGGGAGGCGT	0.716																																																	0													8	11	10					7																	4841406		1878	4070	5948	SO:0001583	missense	0			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.2720G>T	7.37:g.4841406C>A	ENSP00000382492:p.Ser907Ile		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.S907I	ENST00000399583.3	37	c.2720	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830212	0.32329	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000538469	T;T	0.07021	3.32;3.23	5.08	2.93	0.34026	.	0.382448	0.28006	N	0.016976	T	0.08670	0.0215	L	0.44542	1.39	0.80722	D	1	B;D	0.57257	0.363;0.979	B;P	0.46110	0.11;0.504	T	0.16928	-1.0386	10	0.45353	T	0.12	-8.7894	6.0199	0.19623	0.0:0.6639:0.2003:0.1357	.	907;215	Q96JH8;Q75LH2	RADIL_HUMAN;.	I	907;878;667	ENSP00000382492:S907I;ENSP00000442966:S667I	ENSP00000320946:S878I	S	-	2	0	RADIL	4807932	1.000000	0.71417	0.959000	0.39883	0.255000	0.26057	1.028000	0.30128	1.092000	0.41356	0.563000	0.77884	AGC	RADIL	-	NULL	ENSG00000157927		0.716	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2		0	11	0	C	NM_018059		4841406	-1			no_errors	ENST00000399583	ensembl	human	known	74_37	missense	6.52	42	3	SNP	1.000	A	A	4841406	C	A	4841406	3	1	150	1	0	0	0	0	1	0	0	0	13042	797	28	3	523	3	RADIL	7	4841406	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09		4841406	154297257	105	38208											
RADIL	55698	genome.wustl.edu	37	chr7	4917593	4917593	+	Missense_Mutation	SNP	A	A	G	1	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	cttcaggacaccaggggccgAcagctgggtggagagctcgg	8	5	17	11	2	1	1	1	0	0	1	2	4	1	2	2	6	2	2	2	6	0	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:4917593A>G	ENST00000399583.3	-	2	365	c.178T>C	c.(178-180)Tcg>Ccg	p.S60P	RADIL_ENST00000536091.1_Missense_Mutation_p.S60P	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	60					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				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)		CCAGGGGCCGACAGCTGGGTG	0.657																																																	0													19	24	22					7																	4917593		1994	4153	6147	SO:0001583	missense	0			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.178T>C	7.37:g.4917593A>G	ENSP00000382492:p.Ser60Pro		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.S60P	ENST00000399583.3	37	c.178	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887467	0.72410	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	T;T	0.27256	3.08;1.68	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.45478	0.1344	M	0.63843	1.955	0.45366	D	0.998353	D	0.76494	0.999	D	0.70227	0.968	T	0.41698	-0.9494	10	0.59425	D	0.04	-16.8841	10.6124	0.45429	0.8567:0.0:0.0:0.1433	.	60	Q96JH8	RADIL_HUMAN	P	60;34;60;60	ENSP00000382492:S60P;ENSP00000442533:S60P	ENSP00000320946:S34P	S	-	1	0	RADIL	4884119	1.000000	0.71417	0.963000	0.40424	0.777000	0.43975	6.982000	0.76173	2.235000	0.73313	0.459000	0.35465	TCG	RADIL	-	NULL	ENSG00000157927		0.657	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	-	0	41	0	A	NM_018059		4917593	-1	tier1	-	no_errors	ENST00000399583	ensembl	human	known	74_37	missense	55.88	30	38	SNP	0.919	G	G	4917593	A	G	4917593	3	3	150	1	0	0	0	0	1	0	0	0	13042	275	10	4	3105	4	RADIL	7	4917593	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	76187	4917593	154221070	106	38209											
DGKB	1607	genome.wustl.edu	37	chr7	14722292	14722292	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaacccagtaatggtgcatGacctagaacagaatgacaac	16	7	8	10	0	1	4	1	2	0	2	1	4	1	4	2	1	4	2	2	1	6	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:14722292G>A	ENST00000403951.2	-	12	1340	c.921C>T	c.(919-921)gtC>gtT	p.V307V	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Silent_p.V307V|DGKB_ENST00000399322.3_Silent_p.V307V|DGKB_ENST00000407950.1_Silent_p.V300V|DGKB_ENST00000444700.2_Silent_p.V300V|DGKB_ENST00000258767.5_Silent_p.V307V|DGKB_ENST00000406247.3_Silent_p.V307V			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	307					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						AATGGTGCATGACCTAGAACA	0.428																																																	0													166	157	160					7																	14722292		2057	4209	6266	SO:0001819	synonymous_variant	0			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.921C>T	7.37:g.14722292G>A			A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.V307	ENST00000403951.2	37	c.921	CCDS47547.1	7																																																																																			DGKB	-	NULL	ENSG00000136267		0.428	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	-	0	61	0	G	NM_004080		14722292	-1	tier1	-	no_errors	ENST00000258767	ensembl	human	known	74_37	silent	20.22	71	18	SNP	0.990	A	A	14722292	G	A	14722292	2	1	150	1	0	0	0	0	0	0	0	1	4480	1277	45	3		3	DGKB	7	14722292	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	9804699	14722292	144416371	107	38210											
DNAH11	8701	genome.wustl.edu	37	chr7	21583082	21583082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgatgctggggttcacGgaggagaaatggagccagta	11	7	17	6	2	1	2	1	1	0	1	1	6	1	4	1	5	2	3	1	5	2	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:21583082G>A	ENST00000409508.3	+	1	250	c.219G>A	c.(217-219)acG>acA	p.T73T	DNAH11_ENST00000328843.6_Silent_p.T73T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	73	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGGGTTCACGGAGGAGAAAT	0.627									Kartagener syndrome																																								0													27	32	30					7																	21583082		1936	4120	6056	SO:0001819	synonymous_variant	0	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.219G>A	7.37:g.21583082G>A			Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T73	ENST00000409508.3	37	c.219		7																																																																																			DNAH11	-	NULL	ENSG00000105877		0.627	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	70	0	G	NM_003777		21583082	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	silent	19.59	78	19	SNP	0.709	A	A	21583082	G	A	21583082	2	1	150	1	0	0	0	0	0	0	0	1	4613	1103	39	1		1	DNAH11	7	21583082	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	6860790	21583082	137555581	108	38211											
HOXA4	3201	genome.wustl.edu	37	chr7	27170323	27170323	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttgggctcgatgtagttGgagtttatcaaaaacgagct	12	12	11	6	2	1	0	1	0	0	0	2	3	1	1	0	2	3	5	0	2	5	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:27170323G>T	ENST00000360046.5	-	1	95	c.30C>A	c.(28-30)tcC>tcA	p.S10S	HOXA-AS2_ENST00000521159.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_Intron|HOXA4_ENST00000428284.2_Silent_p.S10S|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000517550.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	10					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|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)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGATGTAGTTGGAGTTTATCA	0.577																																																	0													16	16	16					7																	27170323		2200	4294	6494	SO:0001819	synonymous_variant	0				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.30C>A	7.37:g.27170323G>T			A4D180|O43366	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S10	ENST00000360046.5	37	c.30	CCDS5405.1	7																																																																																			HOXA4	-	NULL	ENSG00000197576		0.577	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	-	0	38	0	G			27170323	-1	tier1	-	no_errors	ENST00000360046	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	T	T	27170323	G	T	27170323	2	4	150	1	0	0	0	0	0	0	0	1	7321	1335	47	3		3	HOXA4	7	27170323	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	5587241	27170323	131968340	109	38212											
PKD1L1	168507	genome.wustl.edu	37	chr7	47969077	47969077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcagaaccagactgcgatgCcgtgaagctgggggtgcgag	9	6	16	10	3	1	3	1	1	0	2	1	5	1	3	2	2	5	1	2	2	2	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:47969077C>T	ENST00000289672.2	-	7	834	c.784G>A	c.(784-786)Gca>Aca	p.A262T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	262					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						GACTGCGATGCCGTGAAGCTG	0.557																																																	0													61	64	63					7																	47969077		2203	4300	6503	SO:0001583	missense	0			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.784G>A	7.37:g.47969077C>T	ENSP00000289672:p.Ala262Thr		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.A262T	ENST00000289672.2	37	c.784	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	5.949	0.359155	0.11239	.	.	ENSG00000158683	ENST00000289672	T	0.26810	1.71	3.98	2.15	0.27550	.	28.230500	0.00481	U	0.000137	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B	0.26363	0.147	B	0.19148	0.024	T	0.21109	-1.0255	10	0.59425	D	0.04	-1.3225	6.2346	0.20756	0.0:0.7655:0.0:0.2345	.	262	Q8TDX9	PK1L1_HUMAN	T	262	ENSP00000289672:A262T	ENSP00000289672:A262T	A	-	1	0	PKD1L1	47935602	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.738000	0.04871	0.459000	0.27016	-0.225000	0.12378	GCA	PKD1L1	-	NULL	ENSG00000158683		0.557	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1		0	31	0	C	NM_138295		47969077	-1			no_errors	ENST00000289672	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	T	T	47969077	C	T	47969077	3	4	150	1	0	0	0	0	1	0	0	0	12003	739	26	3	7969	3	PKD1L1	7	47969077	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	20798754	47969077	111169586	110	38213											
PCLO	27445	genome.wustl.edu	37	chr7	82546042	82546042	+	Frame_Shift_Del	DEL	T	T	-																															ggctcgtgccattgtgttggTtctgcagatccttctcctgg																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:82546042delT	ENST00000333891.9	-	7	11597	c.11260delA	c.(11260-11262)accfs	p.T3754fs	PCLO_ENST00000437081.1_Frame_Shift_Del_p.T474fs|PCLO_ENST00000423517.2_Frame_Shift_Del_p.T3754fs	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						ATTGTGTTGGTTCTGCAGATC	0.468																																																	0													125	112	116					7																	82546042		1896	4148	6044	SO:0001589	frameshift_variant	0			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.11260delA	7.37:g.82546042delT	ENSP00000334319:p.Thr3754fs			Frame_Shift_Del	DEL	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.T3754fs	ENST00000333891.9	37	c.11260	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.468	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5		0	66	0	T	NM_014510		82546042	-1	tier1		no_errors	ENST00000333891	ensembl	human	known	74_37	frame_shift_del	55.10	22	27	DEL	1.000	-	-	82546042	T	-	82546042	7	5	150	1	0	1	0	1	0	0	0	0	11622	1725	60	0	4261	0	PCLO	7	82546042	Frame_Shift_Del	DEL	T	TCGA-R6-A8WC-01A-11D-A37C-09	34576965	82546042	76592621	111	38214											
NUP205	23165	genome.wustl.edu	37	chr7	135255911	135255911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagtgggaaatgctctttgGagaagacaacctgaagctgt	14	9	12	6	0	1	3	0	1	1	2	1	5	1	4	1	2	3	2	1	2	5	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:135255911G>T	ENST00000285968.6	+	2	113	c.87G>T	c.(85-87)tgG>tgT	p.W29C	NUP205_ENST00000489493.1_3'UTR|NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	29					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						ATGCTCTTTGGAGAAGACAAC	0.353																																																	0													87	89	88					7																	135255911		2203	4300	6503	SO:0001583	missense	0			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.87G>T	7.37:g.135255911G>T	ENSP00000285968:p.Trp29Cys		A6H8X3|Q86YC1	Missense_Mutation	SNP	pfam_Nup186/Nup192/Nup205	p.W29C	ENST00000285968.6	37	c.87	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982526	0.53827	.	.	ENSG00000155561	ENST00000285968	T	0.29397	1.57	5.44	4.56	0.56223	.	0.322196	0.35739	N	0.003007	T	0.32793	0.0841	L	0.36672	1.1	0.80722	D	1	P	0.50066	0.931	P	0.47864	0.559	T	0.03807	-1.1002	10	0.38643	T	0.18	-25.6679	15.6853	0.77405	0.0:0.0:0.8619:0.1381	.	29	Q92621	NU205_HUMAN	C	29	ENSP00000285968:W29C	ENSP00000285968:W29C	W	+	3	0	NUP205	134906451	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.412000	0.73303	1.297000	0.44761	-0.238000	0.12139	TGG	NUP205	-	pfam_Nup186/Nup192/Nup205	ENSG00000155561		0.353	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	-	0	56	0	G			135255911	1	tier1	-	no_errors	ENST00000285968	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	135255911	G	T	135255911	3	4	150	1	0	0	0	0	1	0	0	0	10798	1183	41	3	93	3	NUP205	7	135255911	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	52709869	135255911	23882752	112	38215											
TAS2R3	50831	genome.wustl.edu	37	chr7	141464471	141464471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgtgactgaacacttCagaaagaagaggagtgagta	17	7	13	4	0	1	6	1	3	0	3	1	8	1	8	0	2	1	1	0	2	5	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:141464471C>A	ENST00000247879.2	+	1	575	c.513C>A	c.(511-513)ttC>ttA	p.F171L	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	171					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.F171F(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CTGAACACTTCAGAAAGAAGA	0.458																																																	1	Substitution - coding silent(1)	breast(1)											152	136	141					7																	141464471		2203	4300	6503	SO:0001583	missense	0			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.513C>A	7.37:g.141464471C>A	ENSP00000247879:p.Phe171Leu		A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.F171L	ENST00000247879.2	37	c.513	CCDS5867.1	7	.	.	.	.	.	.	.	.	.	.	C	9.975	1.226442	0.22542	.	.	ENSG00000127362	ENST00000247879	T	0.36340	1.26	6.04	2.97	0.34412	.	1.604040	0.03201	N	0.174839	T	0.30634	0.0771	L	0.39147	1.195	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.15954	-1.0419	10	0.28530	T	0.3	.	4.4942	0.11828	0.0:0.568:0.1846:0.2474	.	171	Q9NYW6	TA2R3_HUMAN	L	171	ENSP00000247879:F171L	ENSP00000247879:F171L	F	+	3	2	TAS2R3	141110940	0.000000	0.05858	0.002000	0.10522	0.339000	0.28857	-0.836000	0.04382	0.718000	0.32166	0.563000	0.77884	TTC	TAS2R3	-	pfam_TAS2_rcpt	ENSG00000127362		0.458	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R3	HGNC	protein_coding	OTTHUMT00000349288.1	-	0	47	0	C			141464471	1	tier1	-	no_errors	ENST00000247879	ensembl	human	known	74_37	missense	25.35	53	18	SNP	0.003	A	A	141464471	C	A	141464471	3	1	150	1	0	0	0	0	1	0	0	0	15619	825	29	3	515	3	TAS2R3	7	141464471	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	6208560	141464471	17674192	113	38216											
SSPO	23145	genome.wustl.edu	37	chr7	149516919	149516920	+	RNA	INS	-	-	C																															cccatccaagaacgggggagINSccccctgtgctggggagcgg																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:149516919_149516920insC	ENST00000378016.2	+	0	12121_12122							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)			GAACGGGGGAGCCCCCTGTGCT	0.644																																																	0										2,3640		0,2,1819						3.1	0.9			15	0,7756		0,0,3878	no	frameshift	SSPO	NM_198455.2		0,2,5697	A1A1,A1R,RR		0.0,0.0549,0.0175				2,11396						0			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.149516924_149516924dupC			Q76B61	RNA	INS	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.644	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript			0	67	0	-			149516920	1	tier1		no_errors	ENST00000378016	ensembl	human	known	74_37	rna	44.62	72	58	INS	0.464:0.462	C	C	149516920	-	C	149516919	6	5	150	0	1	1	1	0	0	0	0	0	15236	971	34	0		0	SSPO	7	149516919	RNA	INS	-	TCGA-R6-A8WC-01A-11D-A37C-09	8052448	149516919	9621744	114	38217											
CSMD1	64478	genome.wustl.edu	37	chr8	2824141	2824141	+	Frame_Shift_Del	DEL	C	C	-																															gtcccattggctgtgcaatgCcgtgtcatgagccctgaggt																								rs567795988		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:2824141delC	ENST00000520002.1	-	59	9609	c.9054delG	c.(9052-9054)cggfs	p.R3018fs	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.R3018fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.R3017fs|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3018	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)		CTGTGCAATGCCGTGTCATGA	0.512																																																	0													68	71	70					8																	2824141		2077	4222	6299	SO:0001589	frameshift_variant	0					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.9054delG	8.37:g.2824141delC	ENSP00000430733:p.Arg3018fs		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H3019fs	ENST00000520002.1	37	c.9054		8																																																																																			CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0	45	0	C	NM_033225		2824141	-1	tier1		no_errors	ENST00000520002	ensembl	human	known	74_37	frame_shift_del	33.33	28	14	DEL	0.192	-	-	2824141	C	-	2824141	7	5	150	1	0	1	0	1	0	0	0	0	3953	726	26	0	1695	0	CSMD1	8	2824141	Frame_Shift_Del	DEL	C	TCGA-R6-A8WC-01A-11D-A37C-09		2824141	143539881	115	38218											
NEIL2	252969	genome.wustl.edu	37	chr8	11640908	11640908	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagatacttctcagggctaGgtatgactcatgggaaaggg	12	9	14	6	0	2	2	2	1	1	1	3	4	2	3	0	4	1	2	0	4	4	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:11640908G>A	ENST00000284503.6	+	4	1287	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	NEIL2_ENST00000436750.3_Splice_Site_p.G230R|NEIL2_ENST00000528323.1_Splice_Site_p.G114R|NEIL2_ENST00000403422.3_Splice_Site_p.G169R|NEIL2_ENST00000455213.2_Splice_Site_p.G230R	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	230					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)		CTCAGGGCTAGGTATGACTCA	0.537								Base excision repair (BER), DNA glycosylases																																									0													74	63	67					8																	11640908		2203	4300	6503	SO:0001630	splice_region_variant	0			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.688+1G>A	8.37:g.11640908G>A			B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Missense_Mutation	SNP	pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat	p.G230R	ENST00000284503.6	37	c.688	CCDS5984.1	8	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484810	0.63962	.	.	ENSG00000154328	ENST00000455213;ENST00000403422;ENST00000528323;ENST00000436750;ENST00000284503;ENST00000382309	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	4.67	3.78	0.43462	DNA glycosylase/AP lyase, H2TH DNA-binding (1);Ribosomal protein S13-like, H2TH (1);	0.000000	0.85682	D	0.000000	D	0.87954	0.6308	H	0.97852	4.09	0.50039	D	0.999841	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92138	0.5718	10	0.87932	D	0	-18.7094	14.2107	0.65762	0.0:0.1507:0.8493:0.0	.	114;230	B4DFR7;Q969S2	.;NEIL2_HUMAN	R	230;169;114;230;230;215	ENSP00000397538:G230R;ENSP00000384070:G169R;ENSP00000435657:G114R;ENSP00000394023:G230R;ENSP00000284503:G230R	ENSP00000284503:G230R	G	+	1	0	NEIL2	11678317	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.344000	0.59354	1.279000	0.44446	0.561000	0.74099	GGG	NEIL2	-	pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_Ribosomal_S13-like_H2TH	ENSG00000154328		0.537	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL2	HGNC	protein_coding	OTTHUMT00000207583.3	-	0	21	0	G	NM_145043	Missense_Mutation	11640908	1	tier1	-	no_errors	ENST00000284503	ensembl	human	known	74_37	missense	66.67	4	8	SNP	1.000	A	A	11640908	G	A	11640908	5	1	150	1	0	0	0	0	0	0	1	0	10358	1014	35	3	703	3	NEIL2	8	11640908	Splice_Site	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	8816767	11640908	134723114	116	38219											
CNOT7	29883	genome.wustl.edu	37	chr8	17092319	17092319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagtcaagttcttcttcaGgcaagttagagttggttagg	11	13	12	5	0	4	2	2	0	2	2	4	2	4	2	0	3	0	5	0	3	5	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:17092319G>A	ENST00000361272.4	-	5	822	c.524C>T	c.(523-525)cCt>cTt	p.P175L	CNOT7_ENST00000523917.1_Missense_Mutation_p.P175L	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	175					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)		TTCTTCTTCAGGCAAGTTAGA	0.348																																																	0													102	98	100					8																	17092319		2203	4300	6503	SO:0001583	missense	0			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.524C>T	8.37:g.17092319G>A	ENSP00000355279:p.Pro175Leu		A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.P175L	ENST00000361272.4	37	c.524	CCDS6000.2	8	.	.	.	.	.	.	.	.	.	.	G	33	5.274220	0.95459	.	.	ENSG00000198791	ENST00000361272;ENST00000523917	T;T	0.81078	-1.45;-1.45	5.33	5.33	0.75918	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.92450	0.7603	H	0.95950	3.745	0.80722	D	1	P;D	0.59357	0.949;0.985	P;P	0.58873	0.646;0.847	D	0.94222	0.7468	10	0.87932	D	0	-9.9386	19.9159	0.97061	0.0:0.0:1.0:0.0	.	175;175	G3V108;Q9UIV1	.;CNOT7_HUMAN	L	175	ENSP00000355279:P175L;ENSP00000429093:P175L	ENSP00000355279:P175L	P	-	2	0	CNOT7	17136690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	CCT	CNOT7	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	ENSG00000198791		0.348	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT7	HGNC	protein_coding	OTTHUMT00000214038.1	-	0	46	0	G	NM_013354		17092319	-1	tier1	-	no_errors	ENST00000361272	ensembl	human	known	74_37	missense	43.48	13	10	SNP	1.000	A	A	17092319	G	A	17092319	3	1	150	1	0	0	0	0	1	0	0	0	3631	1000	35	3	351	3	CNOT7	8	17092319	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	5451411	17092319	129271703	117	38220											
ANK1	286	genome.wustl.edu	37	chr8	41554052	41554052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccactcgcaggccgttgtggCgacttcctctcatggaacca	7	9	10	15	3	1	0	1	0	1	0	4	2	2	1	4	3	1	2	4	3	1	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:41554052C>T	ENST00000347528.4	-	26	2872	c.2789G>A	c.(2788-2790)cGc>cAc	p.R930H	ANK1_ENST00000396942.1_Missense_Mutation_p.R930H|ANK1_ENST00000396945.1_Missense_Mutation_p.R930H|ANK1_ENST00000265709.8_Missense_Mutation_p.R971H|ANK1_ENST00000379758.2_Missense_Mutation_p.R930H|ANK1_ENST00000352337.4_Missense_Mutation_p.R930H|ANK1_ENST00000289734.7_Missense_Mutation_p.R930H	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	930	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCGTTGTGGCGACTTCCTCT	0.657																																																	0													50	46	47					8																	41554052		2203	4300	6503	SO:0001583	missense	0			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.2789G>A	8.37:g.41554052C>T	ENSP00000339620:p.Arg930His		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R930H	ENST00000347528.4	37	c.2789	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.611816	0.96637	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.67	5.67	0.87782	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.81112	2.525	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.988;0.984;0.998;1.0;0.988;1.0	T	0.75494	-0.3298	10	0.87932	D	0	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	971;930;930;930;930;246	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	H	930;930;930;930;930;930;971;930	ENSP00000339620:R930H;ENSP00000289734:R930H;ENSP00000369082:R930H;ENSP00000380149:R930H;ENSP00000380147:R930H;ENSP00000309131:R930H;ENSP00000265709:R971H	ENSP00000265709:R971H	R	-	2	0	ANK1	41673209	1.000000	0.71417	0.575000	0.28536	0.957000	0.61999	7.785000	0.85724	2.686000	0.91538	0.561000	0.74099	CGC	ANK1	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000029534		0.657	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	-	0	110	0	C	NM_020475		41554052	-1	tier1	-	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	23.33	44	14	SNP	1.000	T	T	41554052	C	T	41554052	3	4	150	1	0	0	0	0	1	0	0	0	620	768	27	1	3250	1	ANK1	8	41554052	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	24461733	41554052	104809970	118	38221											
DKK4	27121	genome.wustl.edu	37	chr8	42231698	42231698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttcgacacagtagtcCagggccacagtcgcaacgct	9	8	11	13	3	0	0	0	0	0	0	3	1	1	0	2	2	1	4	2	2	2	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:42231698C>T	ENST00000220812.2	-	4	781	c.595G>A	c.(595-597)Gga>Aga	p.G199R		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	199	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.G199R(1)		NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CACAGTAGTCCAGGGCCACAG	0.448																																																	1	Substitution - Missense(1)	NS(1)											91	91	91					8																	42231698		2203	4300	6503	SO:0001583	missense	0			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"dickkopf (Xenopus laevis) homolog 4", "dickkopf homolog 4 (Xenopus laevis)"			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.595G>A	8.37:g.42231698C>T	ENSP00000220812:p.Gly199Arg		Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	pfam_Dickkopf_N,pfam_Prokineticin_domain	p.G199R	ENST00000220812.2	37	c.595	CCDS6130.1	8	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964955	0.53507	.	.	ENSG00000104371	ENST00000220812	D	0.84660	-1.88	6.03	5.16	0.70880	Prokineticin domain (2);	0.000000	0.64402	D	0.000012	D	0.86502	0.5948	L	0.56769	1.78	0.53005	D	0.999965	P	0.47350	0.894	P	0.49502	0.613	D	0.87404	0.2371	10	0.66056	D	0.02	-4.6519	13.1371	0.59415	0.0:0.9233:0.0:0.0767	.	199	Q9UBT3	DKK4_HUMAN	R	199	ENSP00000220812:G199R	ENSP00000220812:G199R	G	-	1	0	DKK4	42350855	0.991000	0.36638	0.820000	0.32676	0.356000	0.29392	2.668000	0.46816	1.563000	0.49615	0.655000	0.94253	GGA	DKK4	-	pfam_Prokineticin_domain	ENSG00000104371		0.448	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK4	HGNC	protein_coding	OTTHUMT00000377563.1		0	35	0	C			42231698	-1			no_errors	ENST00000220812	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	42231698	C	T	42231698	3	4	150	1	0	0	0	0	1	0	0	0	4561	603	21	3	83	3	DKK4	8	42231698	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	677646	42231698	104132324	119	38222											
RNF170	81790	genome.wustl.edu	37	chr8	42720613	42720613	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccatgaaccatatcgccaGtaagcaataatgcaggcacc	15	6	8	12	1	0	1	0	1	0	0	1	1	0	1	4	1	4	4	4	1	5	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:42720613G>A	ENST00000534961.1	-	5	818	c.342C>T	c.(340-342)taC>taT	p.Y114Y	RNF170_ENST00000319073.4_Intron|RNF170_ENST00000319104.3_Silent_p.Y114Y|RNF170_ENST00000527424.1_Silent_p.Y114Y|RNF170_ENST00000526349.1_Silent_p.Y30Y	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	114					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CATATCGCCAGTAAGCAATAA	0.353																																																	0													131	124	126					8																	42720613		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"RING-type (C3HC4) zinc fingers"	25358	protein-coding gene	gene with protein product		614649	"sensory ataxia 1 (autosomal dominant)"	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.342C>T	8.37:g.42720613G>A			D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Silent	SNP	pfam_DUF1232,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Y114	ENST00000534961.1	37	c.342	CCDS6138.1	8																																																																																			RNF170	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000120925		0.353	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF170	HGNC	protein_coding	OTTHUMT00000383166.1		0	19	0	G	NM_030954		42720613	-1			no_errors	ENST00000527424	ensembl	human	known	74_37	silent	12.50	14	2	SNP	1.000	A	A	42720613	G	A	42720613	2	1	150	1	0	0	0	0	0	0	0	1	13507	1024	36	3		3	RNF170	8	42720613	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	488915	42720613	103643409	120	38223											
PRKDC	5591	genome.wustl.edu	37	chr8	48744396	48744396	+	Silent	SNP	A	A	G	1	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	ttctctcgtttttgctcagcAacgccttttctggcatacat	6	17	6	12	2	3	0	1	0	2	0	5	0	3	0	1	1	4	4	1	1	2	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:48744396A>G	ENST00000314191.2	-	61	8297	c.8241T>C	c.(8239-8241)gtT>gtC	p.V2747V	PRKDC_ENST00000338368.3_Silent_p.V2747V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2748	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTTGCTCAGCAACGCCTTTTC	0.512								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													169	175	173					8																	48744396		2011	4179	6190	SO:0001819	synonymous_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8241T>C	8.37:g.48744396A>G			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.V2747	ENST00000314191.2	37	c.8241		8																																																																																			PRKDC	-	NULL	ENSG00000253729		0.512	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	79	0	A	NM_001081640		48744396	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	53.52	33	38	SNP	0.004	G	G	48744396	A	G	48744396	2	3	150	1	0	0	0	0	0	0	0	1	12563	117	5	4		4	PRKDC	8	48744396	Silent	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	6023783	48744396	97619626	121	38224											
SOX17	64321	genome.wustl.edu	37	chr8	55372161	55372161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcgggtccctcgattcCgggcctcctggcgccaccca	3	6	12	20	5	0	0	0	0	0	0	4	1	3	0	7	3	0	0	7	3	0	1	rs200451706		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:55372161C>T	ENST00000297316.4	+	2	1055	c.851C>T	c.(850-852)cCg>cTg	p.P284L		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	284	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCCTCGATTCCGGGCCTCCTG	0.746																																																	0													2	2	2					8																	55372161		1454	3113	4567	SO:0001583	missense	0			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.851C>T	8.37:g.55372161C>T	ENSP00000297316:p.Pro284Leu			Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P284L	ENST00000297316.4	37	c.851	CCDS6159.1	8	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505882	0.44558	.	.	ENSG00000164736	ENST00000297316	D	0.96967	-4.19	4.56	1.07	0.20283	.	0.267588	0.37053	N	0.002280	D	0.92883	0.7736	M	0.63843	1.955	0.49130	D	0.999751	B	0.06786	0.001	B	0.04013	0.001	D	0.85236	0.1035	10	0.20519	T	0.43	.	7.8626	0.29517	0.5278:0.3843:0.0:0.0879	.	284	Q9H6I2	SOX17_HUMAN	L	284	ENSP00000297316:P284L	ENSP00000297316:P284L	P	+	2	0	SOX17	55534714	0.000000	0.05858	0.934000	0.37439	0.225000	0.24961	-0.266000	0.08631	0.294000	0.22547	0.455000	0.32223	CCG	SOX17	-	pfam_Sox_C_TAD	ENSG00000164736		0.746	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX17	HGNC	protein_coding	OTTHUMT00000378526.2	-	0	12	0	C			55372161	1	tier1	rs200451706	no_errors	ENST00000297316	ensembl	human	known	74_37	missense	52.17	11	12	SNP	0.971	T	T	55372161	C	T	55372161	3	4	150	1	0	0	0	0	1	0	0	0	14992	652	23	1	857	1	SOX17	8	55372161	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	6627765	55372161	90991861	122	38225											
NUDCD1	84955	genome.wustl.edu	37	chr8	110346185	110346185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgtaaccctcgaagcGgggatccaacagaggtctct	10	8	12	11	2	1	1	0	0	1	1	4	4	2	2	2	3	4	2	2	3	3	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:110346185G>T	ENST00000239690.4	-	1	429	c.55C>A	c.(55-57)Cgc>Agc	p.R19S	ENY2_ENST00000521662.1_5'Flank|ENY2_ENST00000520147.1_5'Flank|ENY2_ENST00000521688.1_5'Flank	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CCCTCGAAGCGGGGATCCAAC	0.572																																																	0													72	73	73					8																	110346185		2203	4300	6503	SO:0001583	missense	0			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.55C>A	8.37:g.110346185G>T	ENSP00000239690:p.Arg19Ser			Missense_Mutation	SNP	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.R19S	ENST00000239690.4	37	c.55	CCDS6312.1	8	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035469	0.54896	.	.	ENSG00000120526	ENST00000239690	T	0.16743	2.32	5.65	5.65	0.86999	.	0.371038	0.27088	N	0.020984	T	0.10465	0.0256	N	0.12182	0.205	0.80722	D	1	B	0.18013	0.025	B	0.13407	0.009	T	0.13229	-1.0517	10	0.39692	T	0.17	-5.5149	11.9289	0.52835	0.0:0.0:0.741:0.259	.	19	Q96RS6	NUDC1_HUMAN	S	19	ENSP00000239690:R19S	ENSP00000239690:R19S	R	-	1	0	NUDCD1	110415361	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.213000	0.51153	2.941000	0.99782	0.655000	0.94253	CGC	NUDCD1	-	NULL	ENSG00000120526		0.572	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD1	HGNC	protein_coding	OTTHUMT00000380996.1	-	0	39	0	G	NM_032869		110346185	-1	tier1	-	no_errors	ENST00000239690	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	110346185	G	T	110346185	3	4	150	1	0	0	0	0	1	0	0	0	10761	1116	39	2	1771	2	NUDCD1	8	110346185	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	54974024	110346185	36017837	123	38226											
TNFRSF11B	4982	genome.wustl.edu	37	chr8	119945384	119945384	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtggtcagggcaaggggcGcacacggtcttccactttgc	7	9	14	11	2	2	0	1	0	1	0	3	0	3	0	1	5	1	2	1	5	2	3	rs142201380	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:119945384G>A	ENST00000297350.4	-	2	564	c.186C>T	c.(184-186)tgC>tgT	p.C62C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	62					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)	p.C62C(1)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GGCAAGGGGCGCACACGGTCT	0.517													G|||	15	0.00299521	0.0113	0	5008	,	,		20846	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	large_intestine(1)						G		46,4360	48.2+/-83.0	1,44,2158	290	258	269		186	-6.6	0	8	dbSNP_134	269	0,8600		0,0,4300	no	coding-synonymous	TNFRSF11B	NM_002546.3		1,44,6458	AA,AG,GG		0.0,1.044,0.3537		62/402	119945384	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	0			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"Tumor necrosis factor receptor superfamily"	11909	protein-coding gene	gene with protein product		602643	"osteoprotegerin"	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.186C>T	8.37:g.119945384G>A			B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg	p.C62	ENST00000297350.4	37	c.186	CCDS6326.1	8																																																																																			TNFRSF11B	-	pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg	ENSG00000164761		0.517	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11B	HGNC	protein_coding	OTTHUMT00000381220.1		0	53	0	G			119945384	-1			no_errors	ENST00000297350	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.001	A	A	119945384	G	A	119945384	2	1	150	1	0	0	0	0	0	0	0	1	16332	1079	38	1		1	TNFRSF11B	8	119945384	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	9599199	119945384	26418638	124	38227											
GRHPR	9380	genome.wustl.edu	37	chr9	37424873	37424873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagtgggactcggatgagCccatccctgccaaggagcta	10	6	13	12	1	0	1	0	1	0	0	2	4	1	4	3	3	4	2	3	3	2	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:37424873C>T	ENST00000318158.6	+	2	200	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	GRHPR_ENST00000607784.1_Missense_Mutation_p.P39S|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	39					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CTCGGATGAGCCCATCCCTGC	0.677																																																	0													48	45	46					9																	37424873		2203	4300	6503	SO:0001583	missense	0			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.115C>T	9.37:g.37424873C>T	ENSP00000313432:p.Pro39Ser		Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.P39S	ENST00000318158.6	37	c.115	CCDS6609.1	9	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354731	0.82243	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	D;D	0.82711	-1.64;-1.64	5.98	5.98	0.97165	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	M	0.72624	2.21	0.80722	D	1	P	0.39404	0.672	B	0.42916	0.402	D	0.86561	0.1841	10	0.72032	D	0.01	0.7013	20.1161	0.97934	0.0:1.0:0.0:0.0	.	39	Q9UBQ7	GRHPR_HUMAN	S	39	ENSP00000367055:P39S;ENSP00000313432:P39S	ENSP00000313432:P39S	P	+	1	0	GRHPR	37414873	0.980000	0.34600	1.000000	0.80357	0.502000	0.33828	3.425000	0.52771	2.861000	0.98227	0.650000	0.86243	CCC	GRHPR	-	pfam_D-isomer_2_OHA_DH_cat_dom	ENSG00000137106		0.677	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHPR	HGNC	protein_coding	OTTHUMT00000052442.1		0	93	0	C	NM_012203		37424873	1			no_errors	ENST00000318158	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	37424873	C	T	37424873	3	4	150	1	0	0	0	0	1	0	0	0	6793	739	26	3	121	3	GRHPR	9	37424873	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09		37424873	103788558	125	38228											
RORB	6096	genome.wustl.edu	37	chr9	77257546	77257546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacgtcattgacctgcccaAgtctgagggttattacaacg	10	10	10	11	2	2	2	1	2	1	0	2	2	2	2	2	1	3	2	2	1	4	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:77257546A>G	ENST00000396204.2	+	4	485	c.485A>G	c.(484-486)aAg>aGg	p.K162R	RORB_ENST00000376896.3_Missense_Mutation_p.K151R			Q92753	RORB_HUMAN	RAR-related orphan receptor B	162	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GACCTGCCCAAGTCTGAGGGT	0.517																																																	0													112	92	99					9																	77257546		2203	4300	6503	SO:0001583	missense	0			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.485A>G	9.37:g.77257546A>G	ENSP00000379507:p.Lys162Arg		Q8WX73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt	p.K162R	ENST00000396204.2	37	c.485		9	.	.	.	.	.	.	.	.	.	.	A	18.43	3.621298	0.66787	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.93811	-3.29;-3.29	5.95	5.95	0.96441	.	0.545328	0.22031	N	0.065594	D	0.94328	0.8177	M	0.74258	2.255	0.80722	D	1	P;B	0.51449	0.945;0.016	P;B	0.50082	0.63;0.009	D	0.92806	0.6260	10	0.20519	T	0.43	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	162;151	Q92753;Q58EY0	RORB_HUMAN;.	R	151;162	ENSP00000366093:K151R;ENSP00000379507:K162R	ENSP00000366093:K151R	K	+	2	0	RORB	76447366	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.907000	0.75724	2.279000	0.76181	0.533000	0.62120	AAG	RORB	-	NULL	ENSG00000198963		0.517	RORB-201	KNOWN	basic	protein_coding	RORB	HGNC	protein_coding		-	0	49	0	A			77257546	1	tier1	-	no_errors	ENST00000396204	ensembl	human	known	74_37	missense	92.86	2	26	SNP	1.000	G	G	77257546	A	G	77257546	3	3	150	1	0	0	0	0	1	0	0	0	13574	72	3	4	466	4	RORB	9	77257546	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	39832673	77257546	63955885	126	38229											
C9orf79	286234	genome.wustl.edu	37	chr9	90503384	90503384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagttgtgggacaaatcctgGtggacaaactggggcttcag	10	9	15	7	0	1	0	1	0	0	0	2	3	2	2	1	5	1	2	1	5	2	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:90503384G>T	ENST00000325643.5	+	4	4048	c.3982G>T	c.(3982-3984)Gtg>Ttg	p.V1328L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1328					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACAAATCCTGGTGGACAAACT	0.577																																																	0													74	72	73					9																	90503384		2203	4300	6503	SO:0001583	missense	0			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.3982G>T	9.37:g.90503384G>T	ENSP00000322640:p.Val1328Leu		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.V1328L	ENST00000325643.5	37	c.3982	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	g	6.034	0.374615	0.11409	.	.	ENSG00000177992	ENST00000325643	T	0.03801	3.8	2.47	-1.72	0.08107	.	2.586540	0.01648	N	0.024411	T	0.04048	0.0113	L	0.34521	1.04	0.09310	N	1	B	0.29432	0.244	B	0.22753	0.041	T	0.35226	-0.9797	10	0.30854	T	0.27	.	3.1533	0.06495	0.4156:0.2217:0.3627:0.0	.	1328	Q6ZUB1	CI079_HUMAN	L	1328	ENSP00000322640:V1328L	ENSP00000322640:V1328L	V	+	1	0	C9orf79	89693204	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.260000	0.08708	-0.435000	0.07264	0.655000	0.94253	GTG	SPATA31E1	-	NULL	ENSG00000177992		0.577	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	-	0	34	0	G	NM_178828		90503384	1	tier1	-	no_errors	ENST00000325643	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.000	T	T	90503384	G	T	90503384	3	4	150	1	0	0	0	0	1	0	0	0	2504	1261	44	3	3996	3	C9orf79	9	90503384	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	13245838	90503384	50710047	127	38230											
SEMA4D	10507	genome.wustl.edu	37	chr9	91991861	91991861	+	3'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgtcgggccccgcacccGaggctggccagggggtccag	4	5	17	15	3	0	0	0	0	0	0	2	1	1	0	5	5	1	3	5	5	0	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:91991861G>A	ENST00000450295.1	-	0	5123				SEMA4D_ENST00000343780.4_Missense_Mutation_p.S590L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.S590L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S590L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S590L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D						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						CCCCGCACCCGAGGCTGGCCA	0.667																																																	0													12	16	15					9																	91991861		689	1588	2277	SO:0001624	3_prime_UTR_variant	0			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.*1758C>T	9.37:g.91991861G>A			B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.S590L	ENST00000450295.1	37	c.1769	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	G	8.225	0.803328	0.16397	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.47	0.0803	0.14420	.	.	.	.	.	T	0.17109	0.0411	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.23691	-1.0181	8	0.48119	T	0.1	.	7.7284	0.28773	0.6883:0.0:0.3117:0.0	.	590	Q92854-2	.	L	590	ENSP00000344923:S590L;ENSP00000391733:S590L;ENSP00000411981:S590L;ENSP00000343418:S590L	ENSP00000344923:S590L	S	-	2	0	SEMA4D	91181681	0.716000	0.27956	0.007000	0.13788	0.041000	0.13682	1.022000	0.30052	0.135000	0.18707	0.555000	0.69702	TCG	SEMA4D	-	NULL	ENSG00000187764		0.667	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	-	0	65	0	G	NM_006378		91991861	-1	tier1	-	no_errors	ENST00000343780	ensembl	human	known	74_37	missense	90.32	6	56	SNP	0.000	A	A	91991861	G	A	91991861	1	1	150	0	1	0	0	0	0	0	0	0	14079	1059	37	1		1	SEMA4D	9	91991861	3'UTR	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	1488477	91991861	49221570	128	38231											
TSTD2	158427	genome.wustl.edu	37	chr9	100367120	100367120	+	Nonsense_Mutation	SNP	T	T	A	0	1	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	gtacttgtggatgccaccctTgagctggaacacctccttgc	7	11	10	13	0	0	1	0	1	0	0	1	3	1	3	4	2	5	2	4	2	2	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:100367120T>A	ENST00000341170.4	-	9	1523	c.1141A>T	c.(1141-1143)Aag>Tag	p.K381*	TSTD2_ENST00000354801.2_Nonsense_Mutation_p.K121*	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	381	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.									large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						ATGCCACCCTTGAGCTGGAAC	0.478																																																	0													104	94	97					9																	100367120		2203	4300	6503	SO:0001587	stop_gained	0			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1141A>T	9.37:g.100367120T>A	ENSP00000342499:p.Lys381*		A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Nonsense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.K381*	ENST00000341170.4	37	c.1141	CCDS6727.2	9	.	.	.	.	.	.	.	.	.	.	T	42	9.694673	0.99241	.	.	ENSG00000136925	ENST00000375172;ENST00000341170;ENST00000375165;ENST00000354801	.	.	.	4.3	4.3	0.51218	.	0.047561	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3458	13.5952	0.61984	0.0:0.0:0.0:1.0	.	.	.	.	X	155;381;121;121	.	ENSP00000342499:K381X	K	-	1	0	TSTD2	99406941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.637000	0.67854	1.947000	0.56498	0.460000	0.39030	AAG	TSTD2	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000136925		0.478	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTD2	HGNC	protein_coding	OTTHUMT00000053325.4	-	0	33	0	T	NM_139246		100367120	-1	tier1	-	no_errors	ENST00000341170	ensembl	human	known	74_37	nonsense	10.00	27	3	SNP	1.000	A	A	100367120	T	A	100367120	4	1	150	1	0	0	0	0	0	1	0	0	16724	1821	63	5	417	5	TSTD2	9	100367120	Nonsense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	8375259	100367120	40846311	129	38232											
ZNF462	58499	genome.wustl.edu	37	chr9	109691105	109691105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtctccatcactgaggagGaggtgggagaggagcccgtg	10	6	17	8	1	2	2	1	1	1	1	3	6	2	5	2	5	1	0	2	5	1	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:109691105G>A	ENST00000277225.5	+	3	5201	c.4912G>A	c.(4912-4914)Gag>Aag	p.E1638K	ZNF462_ENST00000441147.2_Missense_Mutation_p.E483K|ZNF462_ENST00000457913.1_Missense_Mutation_p.E1638K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1638					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						CACTGAGGAGGAGGTGGGAGA	0.587																																																	0													98	98	98					9																	109691105		2203	4300	6503	SO:0001583	missense	0			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.4912G>A	9.37:g.109691105G>A	ENSP00000277225:p.Glu1638Lys		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1638K	ENST00000277225.5	37	c.4912	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765571	0.49574	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06687	3.27;3.63;3.81;3.82	5.92	5.92	0.95590	.	0.110451	0.64402	D	0.000012	T	0.07728	0.0194	N	0.17082	0.46	0.80722	D	1	P;B	0.52316	0.952;0.18	P;B	0.44811	0.461;0.037	T	0.13872	-1.0493	10	0.56958	D	0.05	.	13.1005	0.59218	0.0767:0.0:0.9233:0.0	.	1638;1638	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	K	1638;1638;521;483	ENSP00000277225:E1638K;ENSP00000414570:E1638K;ENSP00000363818:E521K;ENSP00000397306:E483K	ENSP00000277225:E1638K	E	+	1	0	ZNF462	108730926	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.078000	0.76821	2.804000	0.96469	0.655000	0.94253	GAG	ZNF462	-	NULL	ENSG00000148143		0.587	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	-	0	28	0	G	NM_021224		109691105	1	tier1	-	no_errors	ENST00000457913	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A	A	109691105	G	A	109691105	3	1	150	1	0	0	0	0	1	0	0	0	17974	1175	41	3	4918	3	ZNF462	9	109691105	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	9323985	109691105	31522326	130	38233											
PAPPA	5069	genome.wustl.edu	37	chr9	119109306	119109306	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	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	gcacgactctgcctttcagaCgggacccagcgtcacagtga	9	7	11	14	3	3	2	2	1	1	1	3	4	3	3	2	1	2	1	2	1	0	1	rs538031087		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:119109306C>T	ENST00000328252.3	+	15	4151	c.3782C>T	c.(3781-3783)aCg>aTg	p.T1261M	PAPPA_ENST00000534838.1_Splice_Site_p.T299M	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1261	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCCTTTCAGACGGGACCCAGC	0.552													C|||	1	0.000199681	0	0.0014	5008	,	,		21320	0		0	False		,,,				2504	0																0													88	71	76					9																	119109306		2203	4300	6503	SO:0001630	splice_region_variant	0				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.3781-1C>T	9.37:g.119109306C>T			B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.T1261M	ENST00000328252.3	37	c.3782	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650770	0.29336	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.76316	-1.01;-1.01	5.76	-5.32	0.02722	Complement control module (2);Sushi/SCR/CCP (2);	1.102140	0.06615	N	0.756414	T	0.61602	0.2360	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.09377	0.002;0.004	T	0.43294	-0.9400	10	0.32370	T	0.25	9.0166	15.5507	0.76148	0.0:0.363:0.0:0.637	.	299;1261	F5GZ19;Q13219	.;PAPP1_HUMAN	M	1261;299	ENSP00000330658:T1261M;ENSP00000441461:T299M	ENSP00000330658:T1261M	T	+	2	0	PAPPA	118149127	0.000000	0.05858	0.000000	0.03702	0.359000	0.29487	-0.552000	0.06020	-1.225000	0.02578	-1.306000	0.01317	ACG	PAPPA	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000182752		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	-	0	51	0	C	NM_002581	Missense_Mutation	119109306	1	tier1	-	no_errors	ENST00000328252	ensembl	human	known	74_37	missense	76.00	12	38	SNP	0.000	T	T	119109306	C	T	119109306	5	4	150	1	0	0	0	0	0	0	1	0	11471	550	19	1	3840	1	PAPPA	9	119109306	Splice_Site	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	9418201	119109306	22104125	131	38234											
TTLL11	158135	genome.wustl.edu	37	chr9	124855629	124855629	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggacaatcgccggccGagccccagcgacctcatagg	10	3	14	14	4	1	0	1	0	0	0	2	4	1	2	5	4	2	0	5	4	3	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:124855629G>T	ENST00000373776.3	-	1	256	c.69C>A	c.(67-69)ctC>ctA	p.L23L	TTLL11_ENST00000474723.1_5'Flank|TTLL11_ENST00000321582.5_Silent_p.L23L	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	23					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						ATCGCCGGCCGAGCCCCAGCG	0.692																																																	0													9	10	10					9																	124855629		1661	3127	4788	SO:0001819	synonymous_variant	0			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.69C>A	9.37:g.124855629G>T				Silent	SNP	pfam_TTL/TTLL_fam	p.L23	ENST00000373776.3	37	c.69	CCDS6834.2	9																																																																																			TTLL11	-	NULL	ENSG00000175764		0.692	TTLL11-004	KNOWN	basic|CCDS	protein_coding	TTLL11	HGNC	protein_coding	OTTHUMT00000053907.1		0	14	0	G	XM_088486		124855629	-1			no_errors	ENST00000321582	ensembl	human	known	74_37	silent	14.29	12	2	SNP	0.000	T	T	124855629	G	T	124855629	2	4	150	1	0	0	0	0	0	0	0	1	16773	1045	37	2		2	TTLL11	9	124855629	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	5746323	124855629	16357802	132	38235											
DNM1	1759	genome.wustl.edu	37	chr9	130980992	130980992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccggtgcctatcaacctcCgcgtctactcgccgcacggt	5	8	10	18	7	2	0	1	0	1	0	4	0	3	0	5	2	3	1	5	2	3	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:130980992C>T	ENST00000372923.3	+	3	459	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	DNM1_ENST00000393594.3_Missense_Mutation_p.R123C|DNM1_ENST00000341179.7_Missense_Mutation_p.R123C|DNM1_ENST00000475805.1_Missense_Mutation_p.R123C|DNM1_ENST00000486160.1_Missense_Mutation_p.R123C	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	123	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TATCAACCTCCGCGTCTACTC	0.622																																					GBM(113;146 1575 2722 28670 29921)												0													34	29	30					9																	130980992		2203	4300	6503	SO:0001583	missense	0			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.367C>T	9.37:g.130980992C>T	ENSP00000362014:p.Arg123Cys		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.R123C	ENST00000372923.3	37	c.367	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.155744	0.94686	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24	5.38	5.38	0.77491	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98645	0.9546	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.99612	1.0981	10	0.87932	D	0	-0.4131	15.5138	0.75806	0.1387:0.8613:0.0:0.0	.	123;123;123	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	C	123;123;123;118;123;123	ENSP00000419225:R123C;ENSP00000345680:R123C;ENSP00000362014:R123C;ENSP00000377219:R123C;ENSP00000420045:R123C	ENSP00000345680:R123C	R	+	1	0	DNM1	130020813	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.464000	0.35288	2.517000	0.84864	0.462000	0.41574	CGC	DNM1	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase	ENSG00000106976		0.622	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	-	0	71	0	C	NM_004408		130980992	1	tier1	-	no_errors	ENST00000372923	ensembl	human	known	74_37	missense	78.67	16	59	SNP	1.000	T	T	130980992	C	T	130980992	3	4	150	1	0	0	0	0	1	0	0	0	4684	652	23	1	377	1	DNM1	9	130980992	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	6125363	130980992	10232439	133	38236											
FAM78A	286336	genome.wustl.edu	37	chr9	134136426	134136426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgatgctgagctgcatgCgccagtgcagcgtctgcagg	6	8	14	13	3	1	1	0	1	1	0	2	2	1	1	2	1	7	5	2	1	0	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:134136426C>T	ENST00000372271.3	-	2	1002	c.635G>A	c.(634-636)cGc>cAc	p.R212H	FAM78A_ENST00000372269.3_Missense_Mutation_p.R209H|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	212										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GAGCTGCATGCGCCAGTGCAG	0.637																																																	0													90	85	87					9																	134136426		2203	4300	6503	SO:0001583	missense	0			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.635G>A	9.37:g.134136426C>T	ENSP00000361345:p.Arg212His		Q86VQ9|Q9H7P4	Missense_Mutation	SNP	NULL	p.R212H	ENST00000372271.3	37	c.635	CCDS6941.2	9	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501521	0.64298	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.95412	-3.7;-3.7;-3.7	4.75	3.86	0.44501	.	0.046101	0.85682	N	0.000000	D	0.93109	0.7806	M	0.71581	2.175	0.80722	D	1	B;P	0.34412	0.023;0.453	B;B	0.23716	0.012;0.048	D	0.92031	0.5633	10	0.66056	D	0.02	-25.8245	12.3362	0.55069	0.0:0.9174:0.0:0.0826	.	212;209	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	H	209;212;181	ENSP00000361343:R209H;ENSP00000361345:R212H;ENSP00000419959:R181H	ENSP00000361343:R209H	R	-	2	0	FAM78A	133126247	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.050000	0.71063	1.126000	0.42016	0.462000	0.41574	CGC	FAM78A	-	NULL	ENSG00000126882		0.637	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	HGNC	protein_coding	OTTHUMT00000054720.1		0	20	0	C	NM_033387		134136426	-1			no_errors	ENST00000372271	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	134136426	C	T	134136426	3	4	150	1	0	0	0	0	1	0	0	0	5648	768	27	1	220	1	FAM78A	9	134136426	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	3155434	134136426	7077005	134	38237											
COL5A1	1289	genome.wustl.edu	37	chr9	137710737	137710737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaggcccggacggtccccCcggccccatggtgagtcaca	6	4	12	19	3	1	1	1	1	0	0	2	2	2	2	7	5	0	0	7	5	0	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:137710737C>T	ENST00000371817.3	+	56	4796	c.4382C>T	c.(4381-4383)cCc>cTc	p.P1461L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1461	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)		GACGGTCCCCCCGGCCCCATG	0.627																																																	0													49	49	49					9																	137710737		2203	4300	6503	SO:0001583	missense	0			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.4382C>T	9.37:g.137710737C>T	ENSP00000360882:p.Pro1461Leu		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P1461L	ENST00000371817.3	37	c.4382	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840466	0.71488	.	.	ENSG00000130635	ENST00000371817	D	0.97066	-4.23	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	D	0.98639	0.9544	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99847	1.1067	10	0.87932	D	0	.	17.6063	0.88039	0.0:1.0:0.0:0.0	.	1461	P20908	CO5A1_HUMAN	L	1461	ENSP00000360882:P1461L	ENSP00000360882:P1461L	P	+	2	0	COL5A1	136850558	1.000000	0.71417	0.949000	0.38748	0.849000	0.48306	7.714000	0.84703	2.150000	0.67090	0.448000	0.29417	CCC	COL5A1	-	NULL	ENSG00000130635		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	66	0	C	NM_000093		137710737	1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	missense	20.22	71	18	SNP	1.000	T	T	137710737	C	T	137710737	3	4	150	1	0	0	0	0	1	0	0	0	3703	623	22	3	4604	3	COL5A1	9	137710737	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	3574311	137710737	3502694	135	38238											
FAM188A	80013	genome.wustl.edu	37	chr10	15876565	15876565	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgtccatatacaggatcTatcaagggttcacttgcatc	11	12	7	11	0	3	0	2	0	1	0	5	1	4	1	2	2	2	2	2	2	4	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:15876565T>C	ENST00000277632.3	-	7	847	c.627A>G	c.(625-627)atA>atG	p.I209M	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	209					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						ATACAGGATCTATCAAGGGTT	0.308																																					Pancreas(159;946 1953 2111 4475 22008)												0													183	172	176					10																	15876565		2203	4300	6503	SO:0001583	missense	0			AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"caspase recruitment domain containing pro-apoptotic protein", "CARD-containing protein"	611649	"chromosome 10 open reading frame 97"	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.627A>G	10.37:g.15876565T>C	ENSP00000277632:p.Ile209Met		Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	NULL	p.I209M	ENST00000277632.3	37	c.627	CCDS7110.1	10	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827788	0.71143	.	.	ENSG00000148481	ENST00000277632;ENST00000418767;ENST00000436829	T;T;T	0.34859	1.34;1.34;1.34	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	L	0.52759	1.655	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.51857	-0.8652	10	0.51188	T	0.08	-16.5514	11.1785	0.48614	0.1371:0.0:0.0:0.8629	.	209	Q9H8M7	F188A_HUMAN	M	209;49;62	ENSP00000277632:I209M;ENSP00000388661:I49M;ENSP00000389883:I62M	ENSP00000277632:I209M	I	-	3	3	FAM188A	15916571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.301000	0.51842	2.191000	0.70037	0.528000	0.53228	ATA	FAM188A	-	NULL	ENSG00000148481		0.308	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188A	HGNC	protein_coding	OTTHUMT00000046990.2	-	0	55	0	T	NM_024948		15876565	-1	tier1	-	no_errors	ENST00000277632	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	C	C	15876565	T	C	15876565	3	2	150	1	0	0	0	0	1	0	0	0	5533	1512	53	4	746	4	FAM188A	10	15876565	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09		15876565	119658182	136	38239											
PTPLA	9200	genome.wustl.edu	37	chr10	17646048	17646049	+	Splice_Site	INS	-	-	A																															atagctagaaccaaccacctINSaaaaaaaaaaagtatttcat																								rs76004443		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:17646048_17646049insA	ENST00000361271.3	-	2	295		c.e2-2			NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A						fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						ACCAACCACCTAAAAAAAAAAA	0.297																																																	0																																										SO:0001630	splice_region_variant	0			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.258-2->T	10.37:g.17646059_17646059dupA			B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Splice_Site	INS	-	e2-2	ENST00000361271.3	37	c.258-3_258-2	CCDS7121.1	10																																																																																			PTPLA	-	-	ENSG00000165996		0.297	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLA	HGNC	protein_coding	OTTHUMT00000047046.1		0	21	0	-	NM_014241	Intron	17646049	-1	tier1		no_errors	ENST00000361271	ensembl	human	known	74_37	splice_site_ins	5.88	32	2	INS	1.000:0.005	A	A	17646049	-	A	17646048	8	5	150	1	0	1	1	0	0	0	1	0	12817	1536	53	0	634	0	PTPLA	10	17646048	Splice_Site	INS	-	TCGA-R6-A8WC-01A-11D-A37C-09	1769483	17646048	117888699	137	38240											
CHAT	1103	genome.wustl.edu	37	chr10	50833616	50833616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcctaccggctccccGgccatacccaggacacgctg	6	7	8	20	3	1	0	0	0	1	0	4	1	3	1	7	3	2	2	7	3	2	2	rs146236256		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:50833616G>A	ENST00000337653.2	+	6	1003	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	CHAT_ENST00000455728.2_Missense_Mutation_p.G166S|CHAT_ENST00000351556.3_Missense_Mutation_p.G166S|CHAT_ENST00000395562.2_Missense_Mutation_p.G202S|CHAT_ENST00000339797.1_Missense_Mutation_p.G166S|CHAT_ENST00000395559.2_Missense_Mutation_p.G166S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	284					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)	CCGGCTCCCCGGCCATACCCA	0.592													G|||	1	0.000199681	0	0	5008	,	,		20696	0		0	False		,,,				2504	0.001																0								G	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	46	35	38		496,604,496,850,496,496,496	5.2	0.8	10	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense,missense	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	56,56,56,56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	166/631,202/667,166/631,284/749,166/631,166/631,166/631	50833616	1,13005	2203	4300	6503	SO:0001583	missense	0			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.850G>A	10.37:g.50833616G>A	ENSP00000337103:p.Gly284Ser		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.G284S	ENST00000337653.2	37	c.850	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486814	0.84854	0.0	1.16E-4	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.975;0.981	D	0.97201	0.9864	10	0.87932	D	0	-30.9801	18.8	0.92013	0.0:0.0:1.0:0.0	.	166;284	F8W8I2;P28329	.;CLAT_HUMAN	S	166;166;166;284;202;166	ENSP00000343486:G166S;ENSP00000345878:G166S;ENSP00000378926:G166S;ENSP00000337103:G284S;ENSP00000378929:G202S;ENSP00000390521:G166S	ENSP00000337103:G284S	G	+	1	0	CHAT	50503622	1.000000	0.71417	0.836000	0.33094	0.196000	0.23810	9.852000	0.99516	2.439000	0.82584	0.411000	0.27672	GGC	CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.592	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0	39	0	G	NM_020549		50833616	1	tier1	rs146236256	no_errors	ENST00000337653	ensembl	human	known	74_37	missense	41.38	17	12	SNP	1.000	A	A	50833616	G	A	50833616	3	1	150	1	0	0	0	0	1	0	0	0	3320	1116	39	1	916	1	CHAT	10	50833616	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	33187568	50833616	84701131	138	38241											
MYPN	84665	genome.wustl.edu	37	chr10	69881862	69881862	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggataccagggataatGaagtgaatcacgccctggaa	13	7	12	9	2	1	2	1	2	0	0	1	5	1	5	2	3	2	0	2	3	5	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:69881862G>T	ENST00000358913.5	+	2	1155	c.667G>T	c.(667-669)Gaa>Taa	p.E223*	MYPN_ENST00000373675.3_Nonsense_Mutation_p.E223*|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Nonsense_Mutation_p.E223*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	223	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						CAGGGATAATGAAGTGAATCA	0.537																																																	0													51	49	50					10																	69881862		2203	4300	6503	SO:0001587	stop_gained	0			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.667G>T	10.37:g.69881862G>T	ENSP00000351790:p.Glu223*		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E223*	ENST00000358913.5	37	c.667	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	G	41	8.883907	0.98990	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	.	.	.	5.74	5.74	0.90152	.	0.252865	0.39615	N	0.001311	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5147	0.27593	0.196:0.0:0.804:0.0	.	.	.	.	X	223	.	.	E	+	1	0	MYPN	69551868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.773000	0.55333	2.683000	0.91414	0.655000	0.94253	GAA	MYPN	-	NULL	ENSG00000138347		0.537	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1		0	34	0	G	NM_032578		69881862	1			no_errors	ENST00000358913	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	1.000	T	T	69881862	G	T	69881862	4	4	150	1	0	0	0	0	0	1	0	0	10136	1291	45	3	669	3	MYPN	10	69881862	Nonsense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	19048246	69881862	65652885	139	38242											
HNRNPH3	3189	genome.wustl.edu	37	chr10	70096998	70096999	+	Frame_Shift_Del	DEL	AT	AT	-																															gatggattgggttatgaaacAtaatggtccaaatgacgcta																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:70096998_70096999delAT	ENST00000265866.7	+	2	185_186	c.20_21delAT	c.(19-21)catfs	p.H7fs	HNRNPH3_ENST00000354695.5_Frame_Shift_Del_p.H7fs|HNRNPH3_ENST00000441000.2_Frame_Shift_Del_p.H7fs|HNRNPH3_ENST00000469172.1_3'UTR	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	7					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						GTTATGAAACATAATGGTCCAA	0.376																																																	0																																										SO:0001589	frameshift_variant	0				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.20_21delAT	10.37:g.70096998_70096999delAT	ENSP00000265866:p.His7fs		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H7fs	ENST00000265866.7	37	c.20_21	CCDS7278.1	10																																																																																			HNRNPH3	-	NULL	ENSG00000096746		0.376	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH3	HGNC	protein_coding	OTTHUMT00000090165.1		0	60	0	AT			70096999	1	tier1		no_errors	ENST00000265866	ensembl	human	known	74_37	frame_shift_del	26.00	74	26	DEL	1.000:1.000	-	-	70096999	AT	-	70096998	7	5	150	1	0	1	0	1	0	0	0	0	7295	217	8	0	22	0	HNRNPH3	10	70096998	Frame_Shift_Del	DEL	AT	TCGA-R6-A8WC-01A-11D-A37C-09	215136	70096998	65437749	140	38243											
C10orf118	55088	genome.wustl.edu	37	chr10	115896001	115896001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttgatttaatttcttctGactcctagtggaaagaaaac	13	15	6	7	0	2	3	0	2	2	1	3	4	3	4	1	1	1	0	1	1	5	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:115896001G>A	ENST00000369287.3	-	8	1597	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	C10orf118_ENST00000543782.1_Missense_Mutation_p.S42L	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		444										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)		AATTTCTTCTGACTCCTAGTG	0.358																																																	0													120	116	117					10																	115896001		2203	4300	6503	SO:0001583	missense	0																														ENST00000369287.3:c.1331C>T	10.37:g.115896001G>A	ENSP00000358293:p.Ser444Leu		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.S444L	ENST00000369287.3	37	c.1331	CCDS7587.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.117596	0.94385	.	.	ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353	T;T	0.58060	0.36;0.36	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.72669	-0.4223	10	0.41790	T	0.15	.	16.9439	0.86225	0.0:0.0:1.0:0.0	.	42;444	F6VCB7;Q7Z3E2	.;CJ118_HUMAN	L	444;42;550	ENSP00000358293:S444L;ENSP00000441576:S42L	ENSP00000358293:S444L	S	-	2	0	C10orf118	115885991	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.971000	0.88012	2.394000	0.81467	0.543000	0.68304	TCA	C10orf118	-	NULL	ENSG00000165813		0.358	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	HGNC	protein_coding	OTTHUMT00000050455.1	-	0	46	0	G			115896001	-1	tier1	-	no_errors	ENST00000369287	ensembl	human	known	74_37	missense	40.00	29	20	SNP	1.000	A	A	115896001	G	A	115896001	3	1	150	1	0	0	0	0	1	0	0	0	1592	1294	45	3	1401	3	C10orf118	10	115896001	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	45799003	115896001	19638746	141	38244											
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118236283	118236283	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgaagattctcagaataAgttgggagcagaaatggtga	14	11	13	3	0	1	5	1	2	1	3	2	6	1	6	0	2	1	3	0	2	4	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:118236283A>C	ENST00000369230.3	+	11	1438	c.1292A>C	c.(1291-1293)aAg>aCg	p.K431T		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	431	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCTCAGAATAAGTTGGGAGCA	0.303																																																	0													95	99	97					10																	118236283		2203	4300	6503	SO:0001583	missense	0			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1292A>C	10.37:g.118236283A>C	ENSP00000358232:p.Lys431Thr			Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.K431T	ENST00000369230.3	37	c.1292	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356734	0.24598	.	.	ENSG00000203837	ENST00000369230	T	0.65549	-0.16	4.13	1.42	0.22433	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.581864	0.14711	N	0.302929	T	0.47192	0.1432	L	0.33137	0.985	0.21064	N	0.999796	P	0.37370	0.592	B	0.37091	0.241	T	0.28267	-1.0049	10	0.33141	T	0.24	.	8.7727	0.34742	0.6344:0.3656:0.0:0.0	.	431	Q17RR3	LIPR3_HUMAN	T	431	ENSP00000358232:K431T	ENSP00000358232:K431T	K	+	2	0	PNLIPRP3	118226273	0.572000	0.26668	0.480000	0.27341	0.476000	0.33039	0.250000	0.18235	0.670000	0.31165	0.533000	0.62120	AAG	PNLIPRP3	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH	ENSG00000203837		0.303	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	-	0	61	0	A	XM_058404		118236283	1	tier1	-	no_errors	ENST00000369230	ensembl	human	known	74_37	missense	63.86	30	53	SNP	0.620	C	C	118236283	A	C	118236283	3	2	150	1	0	0	0	0	1	0	0	0	12191	72	3	4	1334	4	PNLIPRP3	10	118236283	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	2340282	118236283	17298464	142	38245											
OAT	4942	genome.wustl.edu	37	chr10	126090410	126090410	+	Splice_Site	SNP	T	T	C	0	1	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	cacacagcactgcagacaccTgaaagacagtcaattcacca	16	5	6	14	0	2	3	2	1	0	2	2	3	2	3	2	0	2	2	2	0	2	1	rs386833619		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:126090410T>C	ENST00000368845.5	-	8	993		c.e8-2		OAT_ENST00000539214.1_Splice_Site|OAT_ENST00000467675.1_Splice_Site	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase						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)	TGCAGACACCTGAAAGACAGT	0.522																																																	0			GRCh37	CS921157	OAT	S							97	75	82					10																	126090410		2203	4300	6503	SO:0001630	splice_region_variant	0			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.901-2A>G	10.37:g.126090410T>C			D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Splice_Site	SNP	-	e7-2	ENST00000368845.5	37	c.901-2	CCDS7639.1	10	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041041	0.35989	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.137	0.72576	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OAT	126080400	1.000000	0.71417	0.994000	0.49952	0.155000	0.21991	7.625000	0.83145	2.126000	0.65437	0.533000	0.62120	.	OAT	-	-	ENSG00000065154		0.522	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	-	0	38	0	T	NM_000274	Intron	126090410	-1	tier1	-	no_errors	ENST00000368845	ensembl	human	known	74_37	splice_site	8.33	44	4	SNP	1.000	C	C	126090410	T	C	126090410	5	2	150	1	0	0	0	0	0	0	1	0	10842	1594	55	4	432	4	OAT	10	126090410	Splice_Site	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	7854127	126090410	9444337	143	38246											
C10orf90	118611	genome.wustl.edu	37	chr10	128193537	128193537	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgtgatgtgcacgagactGagcaatggcacacggtaggg	10	6	17	8	3	0	3	0	2	0	1	0	4	0	3	0	4	2	4	0	4	2	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:128193537G>A	ENST00000284694.7	-	3	352	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	C10orf90_ENST00000356858.3_Nonsense_Mutation_p.Q31*|C10orf90_ENST00000544758.1_Nonsense_Mutation_p.Q175*|C10orf90_ENST00000454341.1_Nonsense_Mutation_p.Q78*|C10orf90_ENST00000392694.1_Nonsense_Mutation_p.Q31*|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	78					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GCACGAGACTGAGCAATGGCA	0.488																																																	0													148	123	131					10																	128193537		2203	4300	6503	SO:0001587	stop_gained	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.232C>T	10.37:g.128193537G>A	ENSP00000284694:p.Gln78*		B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Nonsense_Mutation	SNP	NULL	p.Q175*	ENST00000284694.7	37	c.523	CCDS31310.1	10	.	.	.	.	.	.	.	.	.	.	G	41	8.921999	0.99004	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	.	.	.	4.4	4.4	0.53042	.	0.663512	0.13416	N	0.389528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.3347	16.1717	0.81822	0.0:0.0:1.0:0.0	.	.	.	.	X	31;78;78;175;78;31;31	.	ENSP00000284694:Q78X	Q	-	1	0	C10orf90	128183527	0.974000	0.33945	0.004000	0.12327	0.001000	0.01503	4.079000	0.57613	2.286000	0.76751	0.561000	0.74099	CAG	C10orf90	-	NULL	ENSG00000154493		0.488	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		-	0	41	0	G	NM_001004298		128193537	-1	tier1	-	no_errors	ENST00000544758	ensembl	human	known	74_37	nonsense	27.78	39	15	SNP	0.263	A	A	128193537	G	A	128193537	4	1	150	1	0	0	0	0	0	1	0	0	1628	1299	45	3	1895	3	C10orf90	10	128193537	Nonsense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	2103127	128193537	7341210	144	38247											
MKI67	4288	genome.wustl.edu	37	chr10	129906796	129906796	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ggaagagctctttgaagccaGccaggtcttctagtgactgg	9	10	13	9	0	3	3	0	2	3	1	3	4	3	4	2	3	3	1	2	3	3	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:129906796G>A	ENST00000368654.3	-	13	3683	c.3308C>T	c.(3307-3309)gCt>gTt	p.A1103V	MKI67_ENST00000368653.3_Missense_Mutation_p.A743V|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1103	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)				TTTGAAGCCAGCCAGGTCTTC	0.507																																																	0													189	186	187					10																	129906796		2203	4300	6503	SO:0001583	missense	0			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.3308C>T	10.37:g.129906796G>A	ENSP00000357643:p.Ala1103Val		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A1103V	ENST00000368654.3	37	c.3308	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	7.419	0.636300	0.14386	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02525	4.26;4.26	4.08	0.196	0.15159	.	.	.	.	.	T	0.08179	0.0204	M	0.66939	2.045	0.09310	N	1	B;D;D	0.65815	0.013;0.995;0.989	B;P;P	0.62298	0.014;0.894;0.9	T	0.27157	-1.0082	9	0.33940	T	0.23	.	4.7457	0.13036	0.2617:0.1644:0.5739:0.0	.	1102;743;1103	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	1103;743;1102	ENSP00000357643:A1103V;ENSP00000357642:A743V	ENSP00000357642:A743V	A	-	2	0	MKI67	129796786	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.342000	0.19926	0.001000	0.14605	0.561000	0.74099	GCT	MKI67	-	pfam_K167R	ENSG00000148773		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	-	0	84	0	G	NM_002417		129906796	-1	tier1	-	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	A	A	129906796	G	A	129906796	3	1	150	1	0	0	0	0	1	0	0	0	9636	971	34	3	6474	3	MKI67	10	129906796	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	1713259	129906796	5627951	145	38248											
MUC6	4588	genome.wustl.edu	37	chr11	1030955	1030955	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccttgcttacgtgctgggCctgccggacgtgggtgctgg	2	10	16	13	3	0	0	0	0	0	0	0	1	0	1	4	4	5	3	4	4	1	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:1030955C>G	ENST00000421673.2	-	6	726	c.676G>C	c.(676-678)Gcc>Ccc	p.A226P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	226	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)	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)		ACGTGCTGGGCCTGCCGGACG	0.657																																																	0													28	35	33					11																	1030955		1987	4146	6133	SO:0001583	missense	0			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.676G>C	11.37:g.1030955C>G	ENSP00000406861:p.Ala226Pro		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.A226P	ENST00000421673.2	37	c.676	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	c	12.16	1.854890	0.32791	.	.	ENSG00000184956	ENST00000421673	T	0.20332	2.08	2.98	0.285	0.15705	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (1);	1.021600	0.07906	U	0.973405	T	0.17323	0.0416	L	0.36672	1.1	0.09310	N	1	P	0.43885	0.82	B	0.42163	0.378	T	0.23119	-1.0197	10	0.62326	D	0.03	.	5.2081	0.15302	0.0:0.3196:0.0:0.6804	.	226	Q6W4X9	MUC6_HUMAN	P	226	ENSP00000406861:A226P	ENSP00000406861:A226P	A	-	1	0	MUC6	1020955	0.000000	0.05858	0.004000	0.12327	0.038000	0.13279	0.357000	0.20199	0.240000	0.21263	0.197000	0.17608	GCC	MUC6	-	smart_Unchr_dom_Cys-rich	ENSG00000184956		0.657	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0	84	0	C	XM_290540		1030955	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	61.54	5	8	SNP	0.011	G	G	1030955	C	G	1030955	3	3	150	1	0	0	0	0	1	0	0	0	10018	739	26	5	6755	5	MUC6	11	1030955	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09		1030955	133975561	146	38249											
EHF	26298	genome.wustl.edu	37	chr11	34680231	34680231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctatggggtaaaaagaaGaacaacagcagcatgaccta	18	5	10	8	0	0	3	0	1	0	2	0	3	0	3	1	2	5	4	1	2	8	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:34680231G>C	ENST00000533754.1	+	8	976	c.759G>C	c.(757-759)aaG>aaC	p.K253N	EHF_ENST00000450654.2_Missense_Mutation_p.K230N|EHF_ENST00000531794.1_Missense_Mutation_p.K275N|EHF_ENST00000530286.1_Missense_Mutation_p.K253N|EHF_ENST00000257831.3_Missense_Mutation_p.K253N					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GTAAAAAGAAGAACAACAGCA	0.448																																																	0													90	95	93					11																	34680231		2202	4298	6500	SO:0001583	missense	0			AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"epithelium-specific ets factor 3", "ESE3 transcription factor"	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.759G>C	11.37:g.34680231G>C	ENSP00000435837:p.Lys253Asn			Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.K253N	ENST00000533754.1	37	c.759	CCDS7894.1	11	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392389	0.62066	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000531794	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.7	-5.78	0.02362	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.99;0.999	T	0.77199	-0.2675	10	0.87932	D	0	.	18.3376	0.90294	0.4181:0.0:0.5819:0.0	.	275;230;253	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	N	253;230;253;253;275	ENSP00000257831:K253N;ENSP00000399733:K230N;ENSP00000433508:K253N;ENSP00000435837:K253N;ENSP00000435835:K275N	ENSP00000257831:K253N	K	+	3	2	EHF	34636807	0.011000	0.17503	0.908000	0.35775	0.982000	0.71751	-0.592000	0.05747	-1.115000	0.02973	-0.367000	0.07326	AAG	EHF	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000135373		0.448	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EHF	HGNC	protein_coding	OTTHUMT00000389855.1	-	0	61	0	G	NM_012153		34680231	1	tier1	-	no_errors	ENST00000257831	ensembl	human	known	74_37	missense	89.66	3	26	SNP	0.380	C	C	34680231	G	C	34680231	3	2	150	1	0	0	0	0	1	0	0	0	4995	933	33	5	785	5	EHF	11	34680231	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	33649276	34680231	100326285	147	38250											
LRRC4C	57689	genome.wustl.edu	37	chr11	40136997	40136997	+	Silent	SNP	C	C	A	0	0	0	1	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	ggagtgaagaggtcatgaggCagtaatgttagattattgtg	12	12	15	2	0	1	4	1	2	0	2	1	5	1	5	0	3	0	3	0	3	4	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:40136997C>A	ENST00000278198.2	-	2	2809	c.846G>T	c.(844-846)ctG>ctT	p.L282L	LRRC4C_ENST00000527150.1_Silent_p.L282L|LRRC4C_ENST00000528697.1_Silent_p.L282L|LRRC4C_ENST00000530763.1_Silent_p.L282L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	282					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)				GGTCATGAGGCAGTAATGTTA	0.453																																																	0													215	168	184					11																	40136997		2203	4300	6503	SO:0001819	synonymous_variant	0			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.846G>T	11.37:g.40136997C>A			A8K0T1|Q7L0N3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L282	ENST00000278198.2	37	c.846	CCDS31464.1	11																																																																																			LRRC4C	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000148948		0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0	28	0	C	NM_020929		40136997	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	silent	88.89	3	24	SNP	1.000	A	A	40136997	C	A	40136997	2	1	150	1	0	0	0	0	0	0	0	1	9043	697	25	3		3	LRRC4C	11	40136997	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	5456766	40136997	94869519	148	38251											
OR5M3	219482	genome.wustl.edu	37	chr11	56237202	56237202	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctctgtgggacgtctgaGatacatgaagatcagagtac	11	10	11	9	1	3	4	1	2	2	3	4	6	4	5	1	1	2	1	1	1	3	2	rs148918177		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:56237202G>C	ENST00000312240.2	-	1	812	c.772C>G	c.(772-774)Ctc>Gtc	p.L258V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	258						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)					GGACGTCTGAGATACATGAAG	0.498																																																	0								G	VAL/LEU	1,4399	2.1+/-5.4	0,1,2199	34	34	34		772	1.9	0.8	11	dbSNP_134	34	0,8590		0,0,4295	no	missense	OR5M3	NM_001004742.2	32	0,1,6494	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging	258/308	56237202	1,12989	2200	4295	6495	SO:0001583	missense	0			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.772C>G	11.37:g.56237202G>C	ENSP00000312208:p.Leu258Val		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L258V	ENST00000312240.2	37	c.772	CCDS31532.1	11	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384837	0.25031	2.27E-4	0.0	ENSG00000174937	ENST00000312240	T	0.39787	1.06	5.08	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.198137	0.25076	N	0.033332	T	0.36386	0.0965	L	0.39898	1.24	0.09310	N	1	P	0.46142	0.873	P	0.51453	0.67	T	0.12344	-1.0551	10	0.37606	T	0.19	-13.0039	1.7997	0.03068	0.1972:0.1542:0.4905:0.1582	.	258	Q8NGP4	OR5M3_HUMAN	V	258	ENSP00000312208:L258V	ENSP00000312208:L258V	L	-	1	0	OR5M3	55993778	0.000000	0.05858	0.849000	0.33467	0.599000	0.36880	-0.959000	0.03853	0.417000	0.25871	0.549000	0.68633	CTC	OR5M3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174937		0.498	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	HGNC	protein_coding	OTTHUMT00000391639.1	-	0	42	0	G	NM_001004742		56237202	-1	tier1	rs148918177	no_errors	ENST00000312240	ensembl	human	known	74_37	missense	91.43	3	32	SNP	0.039	C	C	56237202	G	C	56237202	3	2	150	1	0	0	0	0	1	0	0	0	11214	942	33	5	153	5	OR5M3	11	56237202	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	16100205	56237202	78769314	149	38252											
ACY3	91703	genome.wustl.edu	37	chr11	67410228	67410228	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggggcaggggtcagcgcGggcatggcaggcacggtgaa	7	4	20	10	4	1	1	1	1	0	0	2	1	1	1	0	8	1	4	0	8	1	0	rs149837610		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:67410228G>T	ENST00000255082.3	-	8	1097	c.927C>A	c.(925-927)ccC>ccA	p.P309P	ACY3_ENST00000529256.1_Silent_p.P188P	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	309	Shielding 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)	GGGTCAGCGCGGGCATGGCAG	0.587																																					GBM(56;346 1011 27014 29495 46841)												0													110	100	104					11																	67410228		2200	4294	6494	SO:0001819	synonymous_variant	0			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.927C>A	11.37:g.67410228G>T				Silent	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.P309	ENST00000255082.3	37	c.927	CCDS8175.1	11																																																																																			ACY3	-	pirsf_Aspartoacylase	ENSG00000132744		0.587	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY3	HGNC	protein_coding	OTTHUMT00000394002.1	-	0	61	0	G	NM_080658		67410228	-1	tier1	-	no_errors	ENST00000255082	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.000	T	T	67410228	G	T	67410228	2	4	150	1	0	0	0	0	0	0	0	1	227	1103	39	2		2	ACY3	11	67410228	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	11173026	67410228	67596288	150	38253											
FZD4	8322	genome.wustl.edu	37	chr11	86662289	86662289	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ctgttggaacacttctgccaCgtgtgaagagttttggcaga	9	12	12	8	1	1	3	0	1	1	2	1	4	1	4	1	2	2	3	1	2	2	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:86662289C>T	ENST00000531380.1	-	2	1814	c.1509G>A	c.(1507-1509)acG>acA	p.T503T	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_Missense_Mutation_p.R80C	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	503					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)				ACTTCTGCCACGTGTGAAGAG	0.438																																																	0													114	114	114					11																	86662289		2201	4299	6500	SO:0001819	synonymous_variant	0			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.1509G>A	11.37:g.86662289C>T			A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	NULL	p.R80C	ENST00000531380.1	37	c.238	CCDS8279.1	11	.	.	.	.	.	.	.	.	.	.	C	5.764	0.325301	0.10900	.	.	ENSG00000150687	ENST00000533902	.	.	.	6.17	-4.6	0.03390	.	.	.	.	.	T	0.39009	0.1062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32903	-0.9889	4	.	.	.	.	2.9867	0.05970	0.0888:0.2516:0.2614:0.3983	.	.	.	.	C	80	.	.	R	+	1	0	PRSS23	86339937	0.000000	0.05858	0.663000	0.29738	0.988000	0.76386	-3.471000	0.00460	-1.321000	0.02281	-0.793000	0.03317	CGT	PRSS23	-	NULL	ENSG00000150687		0.438	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	PRSS23	HGNC	protein_coding	OTTHUMT00000393818.2		0	74	0	C	NM_012193		86662289	1			no_errors	ENST00000533902	ensembl	human	putative	74_37	missense	7.50	37	3	SNP	0.205	T	T	86662289	C	T	86662289	2	4	150	1	0	0	0	0	0	0	0	1	6156	523	19	1		1	FZD4	11	86662289	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	19252061	86662289	48344227	151	38254											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103107245	103107245	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagatgacctttccataGaaaatgctcttgtaatatta	14	14	5	8	0	2	3	1	1	1	2	3	3	3	3	2	0	1	2	2	0	6	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:103107245G>T	ENST00000375735.2	+	63	9940	c.9796G>T	c.(9796-9798)Gaa>Taa	p.E3266*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E3266*|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	3266	AAA 5. {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)		CCTTTCCATAGAAAATGCTCT	0.303																																																	0													95	87	90					11																	103107245		1787	4058	5845	SO:0001587	stop_gained	0			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.9796G>T	11.37:g.103107245G>T	ENSP00000364887:p.Glu3266*		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3266*	ENST00000375735.2	37	c.9796	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	51	18.446025	0.99905	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.51	5.51	0.81932	.	0.059077	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4649	0.94934	0.0:0.0:1.0:0.0	.	.	.	.	X	3266	.	ENSP00000364887:E3266X	E	+	1	0	DYNC2H1	102612455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.315000	0.96313	2.582000	0.87167	0.644000	0.83932	GAA	DYNC2H1	-	NULL	ENSG00000187240		0.303	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1		0	74	0	G	XM_370652		103107245	1			no_errors	ENST00000398093	ensembl	human	known	74_37	nonsense	5.77	49	3	SNP	1.000	T	T	103107245	G	T	103107245	4	4	150	1	0	0	0	0	0	1	0	0	4860	943	33	3	10046	3	DYNC2H1	11	103107245	Nonsense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	16444956	103107245	31899271	152	38255											
AKAP3	10566	genome.wustl.edu	37	chr12	4737076	4737076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaggagtcgatgagatccGagaccacctcttttgcatgc	11	9	11	10	2	1	3	0	1	1	3	3	7	2	4	3	1	2	1	3	1	1	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:4737076G>A	ENST00000545990.2	-	5	1516	c.992C>T	c.(991-993)tCg>tTg	p.S331L	AKAP3_ENST00000228850.1_Missense_Mutation_p.S331L|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	331					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GATGAGATCCGAGACCACCTC	0.483																																																	0													162	150	154					12																	4737076		2203	4300	6503	SO:0001583	missense	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.992C>T	12.37:g.4737076G>A	ENSP00000440994:p.Ser331Leu		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.S331L	ENST00000545990.2	37	c.992	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190872	0.78789	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.13089	2.62;2.62	5.67	5.67	0.87782	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.53938	D	0.000044	T	0.40862	0.1134	M	0.78801	2.425	0.41235	D	0.986608	D	0.89917	1.0	D	0.87578	0.998	T	0.19516	-1.0303	10	0.87932	D	0	-13.3884	17.0413	0.86490	0.0:0.0:1.0:0.0	.	331	O75969	AKAP3_HUMAN	L	331	ENSP00000228850:S331L;ENSP00000440994:S331L	ENSP00000228850:S331L	S	-	2	0	AKAP3	4607337	1.000000	0.71417	0.978000	0.43139	0.885000	0.51271	5.508000	0.67006	2.828000	0.97474	0.655000	0.94253	TCG	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.483	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	-	0	37	0	G	NM_006422		4737076	-1	tier1	-	no_errors	ENST00000228850	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.992	A	A	4737076	G	A	4737076	3	1	150	1	0	0	0	0	1	0	0	0	452	1059	37	1	1577	1	AKAP3	12	4737076	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09		4737076	129114819	153	38256											
C12orf40	283461	genome.wustl.edu	37	chr12	40076598	40076598	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaccagtctactcctaaccTtctatcagagaattgtgact	12	12	6	11	0	3	2	1	1	2	1	4	4	4	2	3	0	3	0	3	0	5	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:40076598T>G	ENST00000324616.5	+	8	1026	c.872T>G	c.(871-873)cTt>cGt	p.L291R	C12orf40_ENST00000398716.1_Missense_Mutation_p.L214R|C12orf40_ENST00000405531.3_Missense_Mutation_p.L291R	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	291										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						ACTCCTAACCTTCTATCAGAG	0.313																																																	0													128	124	125					12																	40076598		1830	4076	5906	SO:0001583	missense	0			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.872T>G	12.37:g.40076598T>G	ENSP00000317671:p.Leu291Arg		B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.L291R	ENST00000324616.5	37	c.872	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	T	9.236	1.037077	0.19669	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.49720	0.77;0.79	5.26	1.14	0.20703	.	1.623700	0.03365	N	0.198106	T	0.37210	0.0995	L	0.29908	0.895	0.09310	N	1	B	0.31859	0.343	B	0.34779	0.189	T	0.30822	-0.9965	10	0.62326	D	0.03	.	2.5729	0.04799	0.1422:0.0888:0.1569:0.6121	.	291	Q86WS4	CL040_HUMAN	R	291;214;291	ENSP00000383897:L291R;ENSP00000317671:L291R	ENSP00000317671:L291R	L	+	2	0	C12orf40	38362865	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.014000	0.12656	0.076000	0.16826	0.482000	0.46254	CTT	C12orf40	-	NULL	ENSG00000180116		0.313	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	-	0	47	0	T	NM_173599		40076598	1	tier1	-	no_errors	ENST00000324616	ensembl	human	known	74_37	missense	41.07	33	23	SNP	0.001	G	G	40076598	T	G	40076598	3	3	150	1	0	0	0	0	1	0	0	0	1691	1609	56	4	902	4	C12orf40	12	40076598	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	35339522	40076598	93775297	154	38257											
KRT1	3848	genome.wustl.edu	37	chr12	53069172	53069172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcccccactgctgcttccGgagccgtagctgccatggcc	5	8	11	17	2	0	0	0	0	0	0	1	1	1	1	6	2	6	4	6	2	2	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:53069172G>A	ENST00000252244.3	-	9	1798	c.1740C>T	c.(1738-1740)tcC>tcT	p.S580S		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	580	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tgctgcttccggagccgtagc	0.726																																																	0													5	7	6					12																	53069172		1737	3615	5352	SO:0001819	synonymous_variant	0			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.1740C>T	12.37:g.53069172G>A			B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S580	ENST00000252244.3	37	c.1740	CCDS8836.1	12																																																																																			KRT1	-	NULL	ENSG00000167768		0.726	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	-	0	75	0	G	NM_006121		53069172	-1	tier1	-	no_errors	ENST00000252244	ensembl	human	known	74_37	silent	53.85	36	42	SNP	0.005	A	A	53069172	G	A	53069172	2	1	150	1	0	0	0	0	0	0	0	1	8474	1103	39	1		1	KRT1	12	53069172	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	12992574	53069172	80782723	155	38258											
ITGB7	3695	genome.wustl.edu	37	chr12	53585372	53585372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtctgcctcttgaaagcGaggattgatggtggtcgtga	8	12	14	7	2	2	3	0	3	2	0	3	5	2	4	1	3	2	0	1	3	1	2	rs141610554	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:53585372G>A	ENST00000267082.5	-	16	2596	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C	ITGB7_ENST00000338737.4_Missense_Mutation_p.R641C|ITGB7_ENST00000422257.3_Missense_Mutation_p.R789C|ITGB7_ENST00000550743.2_Missense_Mutation_p.R641C	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	789					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						TCTTGAAAGCGAGGATTGATG	0.507																																																	0								G	CYS/ARG	0,4406		0,0,2203	201	183	189		2365	-0.1	0	12	dbSNP_134	189	11,8589	8.4+/-32.0	0,11,4289	yes	missense	ITGB7	NM_000889.1	180	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	probably-damaging	789/799	53585372	11,12995	2203	4300	6503	SO:0001583	missense	0				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.2365C>T	12.37:g.53585372G>A	ENSP00000267082:p.Arg789Cys		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.R789C	ENST00000267082.5	37	c.2365	CCDS8849.1	12	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783281	0.70222	0.0	0.001279	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.88586	-2.4;-2.4;-2.4	4.05	-0.0984	0.13628	Integrin beta subunit, cytoplasmic (2);	0.989854	0.08192	N	0.983718	D	0.87661	0.6233	L	0.56769	1.78	0.09310	N	1	D	0.61697	0.99	P	0.51266	0.664	T	0.76288	-0.3014	10	0.72032	D	0.01	.	2.3076	0.04178	0.1835:0.1508:0.5111:0.1547	.	789	P26010	ITB7_HUMAN	C	789;789;641	ENSP00000408741:R789C;ENSP00000267082:R789C;ENSP00000345501:R641C	ENSP00000267082:R789C	R	-	1	0	ITGB7	51871639	.	.	0.006000	0.13384	0.791000	0.44710	.	.	-0.009000	0.14296	-0.253000	0.11424	CGC	ITGB7	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt_dom	ENSG00000139626		0.507	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	HGNC	protein_coding	OTTHUMT00000405821.2	-	0	46	0	G			53585372	-1	tier1	rs141610554	no_errors	ENST00000267082	ensembl	human	known	74_37	missense	27.27	40	15	SNP	0.004	A	A	53585372	G	A	53585372	3	1	150	1	0	0	0	0	1	0	0	0	7927	1058	37	1	35	1	ITGB7	12	53585372	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	516200	53585372	80266523	156	38259											
ESPL1	9700	genome.wustl.edu	37	chr12	53677886	53677886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcgagctggagctggcccGcaatgacattgatctctgtc	7	9	14	11	2	1	2	0	2	1	0	3	4	1	3	1	3	2	3	1	3	1	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:53677886G>A	ENST00000257934.4	+	17	3213	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1041H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1041					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						GAGCTGGCCCGCAATGACATT	0.552																																					Colon(53;1069 1201 2587 5382)												0													238	217	224					12																	53677886		2203	4300	6503	SO:0001583	missense	0			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.3122G>A	12.37:g.53677886G>A	ENSP00000257934:p.Arg1041His			Missense_Mutation	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.R1041H	ENST00000257934.4	37	c.3122	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613757	0.87359	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13657	2.57;2.57	5.55	5.55	0.83447	.	0.167050	0.56097	D	0.000031	T	0.38532	0.1044	M	0.73598	2.24	0.41190	D	0.986291	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.939	T	0.05869	-1.0859	10	0.62326	D	0.03	.	16.535	0.84371	0.0:0.0:1.0:0.0	.	252;1041	B4DRU1;Q14674	.;ESPL1_HUMAN	H	1041;716;1041	ENSP00000257934:R1041H;ENSP00000449831:R1041H	ENSP00000257934:R1041H	R	+	2	0	ESPL1	51964153	1.000000	0.71417	0.990000	0.47175	0.946000	0.59487	3.119000	0.50422	2.894000	0.99253	0.655000	0.94253	CGC	ESPL1	-	NULL	ENSG00000135476		0.552	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0	44	0	G	NM_012291		53677886	1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	A	A	53677886	G	A	53677886	3	1	150	1	0	0	0	0	1	0	0	0	5269	1087	38	1	3184	1	ESPL1	12	53677886	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	92514	53677886	80174009	157	38260											
HOXC12	3228	genome.wustl.edu	37	chr12	54348838	54348838	+	Missense_Mutation	SNP	T	T	C	0	1	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	gcttcccgggctgccttcgcTgtcctacccacgccgcgaca	4	8	10	19	5	0	0	0	0	0	0	3	1	2	0	5	1	2	3	5	1	1	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:54348838T>C	ENST00000243103.3	+	1	221	c.125T>C	c.(124-126)cTg>cCg	p.L42P	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	42					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CTGCCTTCGCTGTCCTACCCA	0.677																																																	0													28	30	30					12																	54348838		2201	4300	6501	SO:0001583	missense	0			AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"Homeoboxes / ANTP class : HOXL subclass"	5124	protein-coding gene	gene with protein product		142975	"homeo box C12"	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.125T>C	12.37:g.54348838T>C	ENSP00000243103:p.Leu42Pro		Q9BXJ6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.L42P	ENST00000243103.3	37	c.125	CCDS8866.1	12	.	.	.	.	.	.	.	.	.	.	T	17.35	3.366349	0.61513	.	.	ENSG00000123407	ENST00000243103	D	0.95588	-3.75	2.85	2.85	0.33270	.	0.000000	0.64402	D	0.000018	D	0.97284	0.9112	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97012	0.9737	10	0.59425	D	0.04	.	10.7784	0.46363	0.0:0.0:0.0:1.0	.	42	P31275	HXC12_HUMAN	P	42	ENSP00000243103:L42P	ENSP00000243103:L42P	L	+	2	0	HOXC12	52635105	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.272000	0.78516	1.550000	0.49438	0.374000	0.22700	CTG	HOXC12	-	NULL	ENSG00000123407		0.677	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXC12	HGNC	protein_coding	OTTHUMT00000358868.2	-	0	96	0	T	NM_173860		54348838	1	tier1	-	no_errors	ENST00000243103	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	C	C	54348838	T	C	54348838	3	2	150	1	0	0	0	0	1	0	0	0	7338	1580	55	4	127	4	HOXC12	12	54348838	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	670952	54348838	79503057	158	38261											
OS9	10956	genome.wustl.edu	37	chr12	58111997	58111997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctcagagggaaccagaGaaggaaaggggtgatccaga	14	4	15	8	0	1	4	1	1	0	3	3	7	3	6	3	4	1	0	3	4	3	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:58111997G>T	ENST00000315970.7	+	11	1244	c.1203G>T	c.(1201-1203)gaG>gaT	p.E401D	OS9_ENST00000413095.2_Missense_Mutation_p.E195D|OS9_ENST00000389146.6_Missense_Mutation_p.E401D|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Missense_Mutation_p.E401D|OS9_ENST00000257966.8_Missense_Mutation_p.E402D|OS9_ENST00000389142.5_Missense_Mutation_p.E401D|OS9_ENST00000439210.2_Missense_Mutation_p.E342D|OS9_ENST00000435406.2_Missense_Mutation_p.E349D|OS9_ENST00000551035.1_Missense_Mutation_p.E369D	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	401					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGAACCAGAGAAGGAAAGGG	0.537																																																	0													166	147	153					12																	58111997		2203	4300	6503	SO:0001583	missense	0			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1203G>T	12.37:g.58111997G>T	ENSP00000318165:p.Glu401Asp		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.E401D	ENST00000315970.7	37	c.1203	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	12.67	2.009024	0.35415	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.34275	1.37;1.77;1.78;1.37;1.37;1.37;1.37;1.37;1.37	5.54	-1.13	0.09775	.	2.151960	0.01644	N	0.024194	T	0.29976	0.0750	L	0.29908	0.895	0.09310	N	1	B;B;P;B;B;B;B;B	0.41784	0.023;0.066;0.762;0.014;0.039;0.008;0.062;0.062	B;B;B;B;B;B;B;B	0.42462	0.019;0.043;0.388;0.026;0.014;0.012;0.04;0.024	T	0.21348	-1.0248	10	0.39692	T	0.17	.	6.1041	0.20063	0.3595:0.3824:0.2582:0.0	.	342;369;195;402;401;401;401;401	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	D	401;401;342;401;195;369;402;349;401	ENSP00000450010:E401D;ENSP00000318165:E401D;ENSP00000407360:E342D;ENSP00000373798:E401D;ENSP00000413112:E195D;ENSP00000447866:E369D;ENSP00000257966:E402D;ENSP00000389632:E349D;ENSP00000373794:E401D	ENSP00000257966:E402D	E	+	3	2	OS9	56398264	0.021000	0.18746	0.056000	0.19401	0.085000	0.17905	-0.016000	0.12613	-0.071000	0.12886	-0.892000	0.02923	GAG	OS9	-	NULL	ENSG00000135506		0.537	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1		0	24	0	G	NM_006812		58111997	1			no_errors	ENST00000315970	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.006	T	T	58111997	G	T	58111997	3	4	150	1	0	0	0	0	1	0	0	0	11311	933	33	3	1245	3	OS9	12	58111997	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	3763159	58111997	75739898	159	38262											
CPSF6	11052	genome.wustl.edu	37	chr12	69652800	69652800	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcatgcctacatcagatagCcgaggtccaccaccaacaga	13	5	9	14	1	1	2	1	0	0	2	2	3	2	2	5	2	4	1	5	2	3	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:69652800C>T	ENST00000435070.2	+	6	1235	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	CPSF6_ENST00000456847.3_Silent_p.S302S|CPSF6_ENST00000266679.8_Silent_p.S412S|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	375	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CATCAGATAGCCGAGGTCCAC	0.542																																																	0													100	101	100					12																	69652800		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1125C>T	12.37:g.69652800C>T			A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S412	ENST00000435070.2	37	c.1236	CCDS8988.1	12																																																																																			CPSF6	-	NULL	ENSG00000111605		0.542	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	-	0	31	0	C	NM_007007		69652800	1	tier1	-	no_errors	ENST00000266679	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.901	T	T	69652800	C	T	69652800	2	4	150	1	0	0	0	0	0	0	0	1	3836	738	26	3		3	CPSF6	12	69652800	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	11540803	69652800	64199095	160	38263											
ALX1	8092	genome.wustl.edu	37	chr12	85674198	85674198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaatgcgtgcaggccttCggacccctgccccgcgccga	6	5	13	17	5	0	0	0	0	0	0	1	2	0	1	6	3	3	2	6	3	1	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:85674198C>A	ENST00000316824.3	+	1	314	c.159C>A	c.(157-159)ttC>ttA	p.F53L		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	53					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TGCAGGCCTTCGGACCCCTGC	0.642																																																	0													42	43	42					12																	85674198		2203	4300	6503	SO:0001583	missense	0			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.159C>A	12.37:g.85674198C>A	ENSP00000315417:p.Phe53Leu		Q546C8|Q96FH4	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.F53L	ENST00000316824.3	37	c.159	CCDS9028.1	12	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137441	0.56936	.	.	ENSG00000180318	ENST00000316824	D	0.91631	-2.88	5.47	3.6	0.41247	.	0.000000	0.85682	D	0.000000	D	0.89787	0.6816	N	0.24115	0.695	0.54753	D	0.99998	D	0.58268	0.982	D	0.66351	0.943	D	0.84316	0.0513	10	0.14656	T	0.56	.	7.0616	0.25129	0.1372:0.7099:0.0:0.1529	.	53	Q15699	ALX1_HUMAN	L	53	ENSP00000315417:F53L	ENSP00000315417:F53L	F	+	3	2	ALX1	84198329	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.939000	0.28978	0.629000	0.30376	0.650000	0.86243	TTC	ALX1	-	NULL	ENSG00000180318		0.642	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX1	HGNC	protein_coding	OTTHUMT00000406072.1		0	35	0	C	NM_006982		85674198	1			no_errors	ENST00000316824	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	85674198	C	A	85674198	3	1	150	1	0	0	0	0	1	0	0	0	556	883	31	2	161	2	ALX1	12	85674198	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	16021398	85674198	48177697	161	38264											
ACACB	32	genome.wustl.edu	37	chr12	109703053	109703053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatccagtccatgctgcgtCgctggttcgtggagacggag	7	10	14	10	4	0	1	0	0	0	1	4	3	2	2	2	3	2	3	2	3	1	2	rs372645487		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:109703053C>T	ENST00000338432.7	+	51	7200	c.7081C>T	c.(7081-7083)Cgc>Tgc	p.R2361C	ACACB_ENST00000377848.3_Missense_Mutation_p.R2361C|ACACB_ENST00000377854.5_Missense_Mutation_p.R2291C|ACACB_ENST00000543201.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2361					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)	CATGCTGCGTCGCTGGTTCGT	0.667																																																	0								C	CYS/ARG	0,4406		0,0,2203	68	59	62		7081	4.3	1	12		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACACB	NM_001093.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2361/2459	109703053	1,13005	2203	4300	6503	SO:0001583	missense	0			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.7081C>T	12.37:g.109703053C>T	ENSP00000341044:p.Arg2361Cys		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R2361C	ENST00000338432.7	37	c.7081	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	C	30	5.055251	0.93793	0.0	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	T;T;T	0.56776	0.44;0.44;0.44	4.3	4.3	0.51218	.	0.059344	0.64402	D	0.000001	T	0.69717	0.3142	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	P	0.62740	0.906	T	0.75611	-0.3258	10	0.87932	D	0	.	17.1429	0.86758	0.0:1.0:0.0:0.0	.	2361	O00763	ACACB_HUMAN	C	2361;2361;2291;1592;55	ENSP00000341044:R2361C;ENSP00000367079:R2361C;ENSP00000367085:R2291C	ENSP00000341044:R2361C	R	+	1	0	ACACB	108187436	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.868000	0.69605	2.122000	0.65172	0.555000	0.69702	CGC	ACACB	-	NULL	ENSG00000076555		0.667	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0	48	0	C	NM_001093		109703053	1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	T	T	109703053	C	T	109703053	3	4	150	1	0	0	0	0	1	0	0	0	107	884	31	1	7279	1	ACACB	12	109703053	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	24028855	109703053	24148842	162	38265											
RSRC2	65117	genome.wustl.edu	37	chr12	122992874	122992874	+	Missense_Mutation	SNP	T	T	A	0	1	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	taggaacagctattcctgtcTctgccaaagctttagcttgc	9	13	8	11	0	1	0	0	0	1	0	3	1	2	1	2	1	6	3	2	1	5	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:122992874T>A	ENST00000331738.7	-	8	1071	c.926A>T	c.(925-927)gAg>gTg	p.E309V	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Missense_Mutation_p.E261V	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	309							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TATTCCTGTCTCTGCCAAAGC	0.468																																																	0													92	90	91					12																	122992874		2203	4300	6503	SO:0001583	missense	0			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.926A>T	12.37:g.122992874T>A	ENSP00000330188:p.Glu309Val		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	NULL	p.E309V	ENST00000331738.7	37	c.926	CCDS31920.1	12	.	.	.	.	.	.	.	.	.	.	T	28.2	4.895692	0.91962	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773	T;T	0.49139	1.3;0.79	5.15	5.15	0.70609	.	0.044427	0.85682	D	0.000000	T	0.58595	0.2133	L	0.39633	1.23	0.80722	D	1	D;D;D;D	0.71674	0.989;0.998;0.998;0.968	D;D;D;P	0.72625	0.978;0.917;0.917;0.895	T	0.55003	-0.8208	10	0.30854	T	0.27	.	15.2826	0.73797	0.0:0.0:0.0:1.0	.	310;261;309;78	F5GXM2;Q7L4I2-2;Q7L4I2;B3KMH4	.;.;RSRC2_HUMAN;.	V	309;261;310	ENSP00000330188:E309V;ENSP00000346678:E261V	ENSP00000330188:E309V	E	-	2	0	RSRC2	121558827	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.693000	0.84214	2.059000	0.61396	0.533000	0.62120	GAG	RSRC2	-	NULL	ENSG00000111011		0.468	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC2	HGNC	protein_coding	OTTHUMT00000395096.3	-	0	38	0	T	NM_023012		122992874	-1	tier1	-	no_errors	ENST00000331738	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	122992874	T	A	122992874	3	1	150	1	0	0	0	0	1	0	0	0	13760	1551	54	5	390	5	RSRC2	12	122992874	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	13289821	122992874	10859021	163	38266											
FLT1	2321	genome.wustl.edu	37	chr13	29012409	29012409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaacccggcagggaatgacGagctcccttccttcagtcat	9	9	10	13	2	2	1	2	1	0	0	4	3	4	2	3	2	2	3	3	2	2	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr13:29012409G>A	ENST00000282397.4	-	4	713	c.462C>T	c.(460-462)ctC>ctT	p.L154L	FLT1_ENST00000539099.1_Silent_p.L154L|FLT1_ENST00000541932.1_Silent_p.L154L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	154	Ig-like C2-type 2.				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)	AGGGAATGACGAGCTCCCTTC	0.388																																																	0													124	107	113					13																	29012409		2203	4300	6503	SO:0001819	synonymous_variant	0			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.462C>T	13.37:g.29012409G>A			A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.L154	ENST00000282397.4	37	c.462	CCDS9330.1	13																																																																																			FLT1	-	smart_Ig_sub,smart_Ig_sub2,prints_VEGFR1_rcpt	ENSG00000102755		0.388	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	-	0	61	0	G			29012409	-1	tier1	-	no_errors	ENST00000282397	ensembl	human	known	74_37	silent	18.75	65	15	SNP	0.007	A	A	29012409	G	A	29012409	2	1	150	1	0	0	0	0	0	0	0	1	5963	1045	37	1		1	FLT1	13	29012409	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09		29012409	86157469	164	38267											
RFXAP	5994	genome.wustl.edu	37	chr13	37393677	37393678	+	Frame_Shift_Ins	INS	-	-	G																															aggacgaggctgcggcccccINSgggggcagcgttggggcggg																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr13:37393677_37393678insG	ENST00000255476.2	+	1	317_318	c.183_184insG	c.(184-186)gggfs	p.G62fs		NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	62					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		CTGCGGCCCCCGGGGGCAGCGT	0.703																																																	0																																										SO:0001589	frameshift_variant	0			Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.188dupG	13.37:g.37393682_37393682dupG	ENSP00000255476:p.Gly62fs		B2R9T8|Q5VZM6|Q8TC40	Frame_Shift_Ins	INS	NULL	p.S63fs	ENST00000255476.2	37	c.183_184	CCDS9359.1	13																																																																																			RFXAP	-	NULL	ENSG00000133111		0.703	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFXAP	HGNC	protein_coding	OTTHUMT00000044521.1		0	40	0	-	NM_000538		37393678	1	tier1		no_errors	ENST00000255476	ensembl	human	known	74_37	frame_shift_ins	23.33	23	7	INS	0.000:0.010	G	G	37393678	-	G	37393677	7	5	150	1	0	1	1	0	0	0	0	0	13315	639	23	0	185	0	RFXAP	13	37393677	Frame_Shift_Ins	INS	-	TCGA-R6-A8WC-01A-11D-A37C-09	8381268	37393677	77776201	165	38268											
ZC3H13	23091	genome.wustl.edu	37	chr13	46562991	46562991	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatgtctccctttctctcGcattggagagcgatgtcttg	6	15	9	11	2	4	1	1	0	3	1	7	3	4	1	1	1	1	1	1	1	0	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr13:46562991G>A	ENST00000242848.4	-	9	1534	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R396*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	396	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCTTTCTCTCGCATTGGAGAG	0.458																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													148	127	134					13																	46562991		2203	4300	6503	SO:0001587	stop_gained	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1186C>T	13.37:g.46562991G>A	ENSP00000242848:p.Arg396*		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R396*	ENST00000242848.4	37	c.1186		13	.	.	.	.	.	.	.	.	.	.	G	40	8.480922	0.98829	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	.	.	.	5.81	3.06	0.35304	.	0.000000	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8878	0.79264	0.0:0.0:0.3816:0.6184	.	.	.	.	X	396;396;212	.	ENSP00000242848:R396X	R	-	1	2	ZC3H13	45460992	0.942000	0.31987	1.000000	0.80357	0.999000	0.98932	0.800000	0.27042	0.321000	0.23259	0.655000	0.94253	CGA	ZC3H13	-	NULL	ENSG00000123200		0.458	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	-	0	60	0	G	NM_015070		46562991	-1	tier1	-	no_errors	ENST00000242848	ensembl	human	known	74_37	nonsense	23.64	41	13	SNP	0.994	A	A	46562991	G	A	46562991	4	1	150	1	0	0	0	0	0	1	0	0	17613	1095	38	1	3544	1	ZC3H13	13	46562991	Nonsense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	9169314	46562991	68606887	166	38269											
LRCH1	23143	genome.wustl.edu	37	chr13	47275284	47275285	+	Frame_Shift_Ins	INS	-	-	AT																															atccaaagatcaggacatggINSatatagcaatgatcgagcag																								rs201563944		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr13:47275284_47275285insAT	ENST00000389798.3	+	11	1539_1540	c.1342_1343insAT	c.(1342-1344)gatfs	p.D448fs	LRCH1_ENST00000311191.6_Frame_Shift_Ins_p.D448fs|LRCH1_ENST00000389797.3_Frame_Shift_Ins_p.D448fs	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	448										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TCAGGACATGGATATAGCAATG	0.376																																																	0																																										SO:0001589	frameshift_variant	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1345_1346dupAT	13.37:g.47275287_47275288dupAT	ENSP00000374448:p.Asp448fs		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.A450fs	ENST00000389798.3	37	c.1342_1343	CCDS31972.1	13																																																																																			LRCH1	-	NULL	ENSG00000136141		0.376	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2		0	27	0	-	NM_015116		47275285	1	tier1		no_errors	ENST00000389798	ensembl	human	known	74_37	frame_shift_ins	33.33	28	14	INS	0.992:0.999	AT	AT	47275285	-	AT	47275284	7	5	150	1	0	1	1	0	0	0	0	0	8967	1174	41	0	1384	0	LRCH1	13	47275284	Frame_Shift_Ins	INS	-	TCGA-R6-A8WC-01A-11D-A37C-09	712293	47275284	67894594	167	38270											
FAM124A	220108	genome.wustl.edu	37	chr13	51854757	51854757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcccatccggacaggcctgCctcctgggcaccagcaggaa	8	4	13	16	1	0	0	0	0	0	0	2	2	2	2	6	5	2	2	6	5	1	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr13:51854757C>T	ENST00000322475.8	+	4	1141	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	FAM124A_ENST00000280057.6_Missense_Mutation_p.P372S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	336										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)		GACAGGCCTGCCTCCTGGGCA	0.622																																																	0													59	68	65					13																	51854757		2203	4300	6503	SO:0001583	missense	0			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.1006C>T	13.37:g.51854757C>T	ENSP00000324625:p.Pro336Ser		A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	NULL	p.P372S	ENST00000322475.8	37	c.1114	CCDS55900.1	13	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864253	0.32977	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.43688	0.94;0.94	4.59	0.586	0.17434	.	0.861042	0.10037	N	0.723920	T	0.24084	0.0583	L	0.34521	1.04	0.09310	N	1	B;B	0.16802	0.019;0.017	B;B	0.15484	0.011;0.013	T	0.28138	-1.0053	10	0.10377	T	0.69	-0.9526	2.7193	0.05196	0.1373:0.4604:0.2404:0.162	.	336;372	Q86V42;Q86V42-2	F124A_HUMAN;.	S	336;372	ENSP00000324625:P336S;ENSP00000280057:P372S	ENSP00000280057:P372S	P	+	1	0	FAM124A	50752758	0.000000	0.05858	0.001000	0.08648	0.478000	0.33099	0.073000	0.14640	0.171000	0.19730	0.655000	0.94253	CCT	FAM124A	-	NULL	ENSG00000150510		0.622	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3		0	39	0	C	NM_145019		51854757	1			no_errors	ENST00000280057	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.000	T	T	51854757	C	T	51854757	3	4	150	1	0	0	0	0	1	0	0	0	5444	739	26	3	1132	3	FAM124A	13	51854757	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	4579473	51854757	63315121	168	38271											
PCID2	55795	genome.wustl.edu	37	chr13	113834524	113834525	+	In_Frame_Ins	INS	-	-	TTC																															aggtgatactttttcaggagINSctccacagtgggcatgtgac																								rs185589684		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr13:113834524_113834525insTTC	ENST00000337344.4	-	11	883_884	c.807_808insGAA	c.(805-810)gagctc>gagGAActc	p.269_270insE	PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375459.1_In_Frame_Ins_p.267_268insE|PCID2_ENST00000375457.2_In_Frame_Ins_p.267_268insE|PCID2_ENST00000246505.5_In_Frame_Ins_p.323_324insE|PCID2_ENST00000375477.1_In_Frame_Ins_p.269_270insE|PCID2_ENST00000375479.2_In_Frame_Ins_p.269_270insE	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	269					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)			TTTTTCAGGAGCTCCACAGTGG	0.396																																																	0																																										SO:0001652	inframe_insertion	0			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.807_808insGAA	13.37:g.113834524_113834525insTTC	ENSP00000337405:p.Glu269_Glu269dup		A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	In_Frame_Ins	INS	pfam_PCI_dom,smart_PAM	p.323in_frame_insE	ENST00000337344.4	37	c.970_969	CCDS9532.2	13																																																																																			PCID2	-	smart_PAM	ENSG00000126226		0.396	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	HGNC	protein_coding	OTTHUMT00000045897.1		0	56	0	-	NM_018386		113834525	-1	tier1		no_errors	ENST00000246505	ensembl	human	known	74_37	in_frame_ins	19.48	62	15	INS	1.000:1.000	TTC	TTC	113834525	-	TTC	113834524	7	5	150	1	0	1	1	0	0	0	0	0	11618	971	34	0	407	0	PCID2	13	113834524	In_Frame_Ins	INS	-	TCGA-R6-A8WC-01A-11D-A37C-09	61979767	113834524	1335354	169	38272											
METT11D1	64745	genome.wustl.edu	37	chr14	21464788	21464788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactcagcctgtccttaaaCggcctcgccatgtgcattgt	7	12	8	14	2	2	0	2	0	0	0	4	0	3	0	4	1	3	1	4	1	2	2	rs148330410		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr14:21464788C>T	ENST00000339374.6	+	13	1416	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_5'Flank|METTL17_ENST00000382985.4_Missense_Mutation_p.R395W|METTL17_ENST00000556670.2_Missense_Mutation_p.R395W|SLC39A2_ENST00000298681.4_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	395					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TGTCCTTAAACGGCCTCGCCA	0.577																																																	0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	69	59	62		1183,1183	2.5	0.9	14	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	METTL17	NM_001029991.1,NM_022734.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	395/479,395/457	21464788	1,13005	2203	4300	6503	SO:0001583	missense	0			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1183C>T	14.37:g.21464788C>T	ENSP00000343041:p.Arg395Trp		Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11	p.R395W	ENST00000339374.6	37	c.1183	CCDS9562.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.21|13.21	2.168927|2.168927	0.38315|0.38315	0.0|0.0	1.16E-4|1.16E-4	ENSG00000165792|ENSG00000165792	ENST00000339374;ENST00000382985|ENST00000556733	T;T|.	0.34859|.	1.34;1.34|.	5.34|5.34	2.49|2.49	0.30216|0.30216	.|.	0.058459|.	0.64402|.	N|.	0.000005|.	T|T	0.67618|0.67618	0.2912|0.2912	M|M	0.88377|0.88377	2.95|2.95	0.47547|0.47547	D|D	0.999458|0.999458	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.64123|0.64123	-0.6481|-0.6481	10|5	0.87932|.	D|.	0|.	.|.	2.3687|2.3687	0.04325|0.04325	0.1551:0.5268:0.1504:0.1676|0.1551:0.5268:0.1504:0.1676	.|.	395;395;395|.	Q9H7H0-3;Q9H7H0;Q9H7H0-2|.	.;MET17_HUMAN;.|.	W|M	395|70	ENSP00000343041:R395W;ENSP00000372445:R395W|.	ENSP00000343041:R395W|.	R|T	+|+	1|2	2|0	METTL17|METTL17	20534628|20534628	0.875000|0.875000	0.30112|0.30112	0.912000|0.912000	0.35992|0.35992	0.041000|0.041000	0.13682|0.13682	1.116000|1.116000	0.31221|0.31221	0.234000|0.234000	0.21139|0.21139	-0.140000|-0.140000	0.14226|0.14226	CGG|ACG	METTL17	-	pfam_Ribosomal_Rsm22_bac-type	ENSG00000165792		0.577	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL17	HGNC	protein_coding	OTTHUMT00000073804.4	-	0	23	0	C	NM_022734		21464788	1	tier1	rs148330410	no_errors	ENST00000382985	ensembl	human	known	74_37	missense	71.43	10	25	SNP	0.730	T	T	21464788	C	T	21464788	3	4	150	1	0	0	0	0	1	0	0	0	9529	527	19	1	1233	1	METT11D1	14	21464788	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09		21464788	85884752	170	38273											
LRFN5	145581	genome.wustl.edu	37	chr14	42356204	42356204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggtctttccaatcttCatcatttgatactgaacaac	11	15	5	10	0	5	2	3	2	2	0	6	2	6	2	1	1	3	0	1	1	4	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr14:42356204C>A	ENST00000298119.4	+	3	1565	c.376C>A	c.(376-378)Cat>Aat	p.H126N	LRFN5_ENST00000554120.1_Missense_Mutation_p.H126N|LRFN5_ENST00000554171.1_Missense_Mutation_p.H126N	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	126						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)		TTCCAATCTTCATCATTTGAT	0.378										HNSCC(30;0.082)																																							0													84	81	82					14																	42356204		2203	4300	6503	SO:0001583	missense	0			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.376C>A	14.37:g.42356204C>A	ENSP00000298119:p.His126Asn		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.H126N	ENST00000298119.4	37	c.376	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	13.35	2.212338	0.39102	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.51574	0.7;0.7;0.7	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000017	T	0.44726	0.1307	N	0.11106	0.095	0.52501	D	0.999956	B;P	0.45957	0.431;0.869	B;P	0.52710	0.352;0.707	T	0.52472	-0.8571	10	0.66056	D	0.02	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	126;126	G3V364;Q96NI6	.;LRFN5_HUMAN	N	126	ENSP00000298119:H126N;ENSP00000451897:H126N;ENSP00000451067:H126N	ENSP00000298119:H126N	H	+	1	0	LRFN5	41425954	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.920000	0.70017	2.595000	0.87683	0.650000	0.86243	CAT	LRFN5	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000165379		0.378	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0	42	0	C	NM_152447		42356204	1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	37.50	25	15	SNP	1.000	A	A	42356204	C	A	42356204	3	1	150	1	0	0	0	0	1	0	0	0	8976	826	29	3	378	3	LRFN5	14	42356204	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	20891416	42356204	64993336	171	38274											
EXD2	55218	genome.wustl.edu	37	chr14	69695648	69695648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaaaaacactaccaaGaacgttattggatattttgg	15	11	10	5	1	0	1	0	0	0	1	0	4	0	4	1	4	3	1	1	4	7	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr14:69695648G>T	ENST00000409018.3	+	3	577	c.449G>T	c.(448-450)aGa>aTa	p.R150I	EXD2_ENST00000409675.1_Missense_Mutation_p.R25I|EXD2_ENST00000409949.1_Missense_Mutation_p.R25I|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.R25I|EXD2_ENST00000409242.1_Missense_Mutation_p.R25I|EXD2_ENST00000312994.5_Missense_Mutation_p.R150I|EXD2_ENST00000409014.1_Missense_Mutation_p.R25I	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	150							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ACACTACCAAGAACGTTATTG	0.488																																																	0													136	130	132					14																	69695648		2203	4300	6503	SO:0001583	missense	0			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.449G>T	14.37:g.69695648G>T	ENSP00000387331:p.Arg150Ile		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.R150I	ENST00000409018.3	37	c.449	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344366	0.41498	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.64438	-0.1;-0.05;-0.05;-0.05;-0.05;-0.1;-0.05;-0.05	5.95	3.63	0.41609	Ribonuclease H-like (1);	0.389801	0.30762	N	0.008933	T	0.46756	0.1409	L	0.31752	0.955	0.41794	D	0.989884	B;B	0.20780	0.048;0.005	B;B	0.25759	0.062;0.063	T	0.36601	-0.9741	10	0.45353	T	0.12	-11.1268	6.2842	0.21023	0.7683:0.0:0.2317:0.0	.	150;25	G5E947;Q9NVH0	.;EXD2_HUMAN	I	150;150;25;25;25;25;150;25;25	ENSP00000387331:R150I;ENSP00000386915:R25I;ENSP00000386762:R25I;ENSP00000386632:R25I;ENSP00000386839:R25I;ENSP00000313140:R150I;ENSP00000409089:R25I;ENSP00000392177:R25I	ENSP00000193422:R150I	R	+	2	0	EXD2	68765401	0.992000	0.36948	0.997000	0.53966	0.618000	0.37518	1.051000	0.30417	0.720000	0.32209	0.563000	0.77884	AGA	EXD2	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	ENSG00000081177		0.488	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	-	0	52	0	G			69695648	1	tier1	-	no_errors	ENST00000312994	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.964	T	T	69695648	G	T	69695648	3	4	150	1	0	0	0	0	1	0	0	0	5314	942	33	3	76	3	EXD2	14	69695648	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	27339444	69695648	37653892	172	38275											
RPS6KA5	9252	genome.wustl.edu	37	chr14	91386650	91386650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccaaactccaccagtcaaCtgcctataaaacaacaataa	19	6	2	14	0	1	0	1	0	0	0	2	0	2	0	4	0	5	0	4	0	8	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr14:91386650C>T	ENST00000261991.3	-	7	879	c.706G>A	c.(706-708)Gtt>Att	p.V236I	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.V157I|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.V236I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	236	Protein kinase 1. {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)		CACCAGTCAACTGCCTATAAA	0.289																																																	0													83	89	87					14																	91386650		2203	4299	6502	SO:0001583	missense	0			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.706G>A	14.37:g.91386650C>T	ENSP00000261991:p.Val236Ile		O95316|Q96AF7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.V236I	ENST00000261991.3	37	c.706	CCDS9893.1	14	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870202	0.91587	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.26660	1.72;1.72;1.72	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	N	0.25992	0.78	0.80722	D	1	P;D	0.76494	0.805;0.999	P;D	0.66497	0.455;0.944	T	0.30679	-0.9970	10	0.72032	D	0.01	.	18.9634	0.92685	0.0:1.0:0.0:0.0	.	236;236	O75582-2;O75582	.;KS6A5_HUMAN	I	236;157;236	ENSP00000261991:V236I;ENSP00000442803:V157I;ENSP00000402787:V236I	ENSP00000261991:V236I	V	-	1	0	RPS6KA5	90456403	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.096000	0.76960	2.469000	0.83416	0.650000	0.86243	GTT	RPS6KA5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000100784		0.289	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2		0	30	0	C	NM_004755		91386650	-1			no_errors	ENST00000261991	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	91386650	C	T	91386650	3	4	150	1	0	0	0	0	1	0	0	0	13699	565	20	3	1752	3	RPS6KA5	14	91386650	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	21691002	91386650	15962890	173	38276											
RYR3	6263	genome.wustl.edu	37	chr15	33952417	33952417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacgcaatgcccctgtcagCggccatattcaggagtgaag	11	7	12	11	2	2	1	2	1	0	0	2	3	2	2	3	2	3	1	3	2	4	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:33952417C>T	ENST00000389232.4	+	34	4485	c.4415C>T	c.(4414-4416)gCg>gTg	p.A1472V	RYR3_ENST00000415757.3_Missense_Mutation_p.A1472V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1472	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)		CCCCTGTCAGCGGCCATATTC	0.562																																																	0													36	38	37					15																	33952417		2062	4124	6186	SO:0001583	missense	0				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.4415C>T	15.37:g.33952417C>T	ENSP00000373884:p.Ala1472Val		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A1472V	ENST00000389232.4	37	c.4415	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586565	0.66105	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97352	-4.35;-4.35	4.84	4.84	0.62591	.	0.072060	0.56097	D	0.000021	D	0.97586	0.9209	M	0.82323	2.585	0.53005	D	0.999968	P;P	0.52061	0.623;0.95	B;P	0.49477	0.185;0.612	D	0.98581	1.0650	10	0.87932	D	0	.	18.1471	0.89661	0.0:1.0:0.0:0.0	.	1472;1472	Q15413-2;Q15413	.;RYR3_HUMAN	V	1472	ENSP00000373884:A1472V;ENSP00000399610:A1472V	ENSP00000354735:A1472V	A	+	2	0	RYR3	31739709	1.000000	0.71417	0.458000	0.27068	0.646000	0.38490	7.609000	0.82925	2.515000	0.84797	0.655000	0.94253	GCG	RYR3	-	NULL	ENSG00000198838		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	46	0	C			33952417	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	59.46	15	22	SNP	0.997	T	T	33952417	C	T	33952417	3	4	150	1	0	0	0	0	1	0	0	0	13815	768	27	1	4549	1	RYR3	15	33952417	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09		33952417	68578975	174	38277											
CATSPER2	117155	genome.wustl.edu	37	chr15	43931190	43931190	+	Missense_Mutation	SNP	A	A	C																															agtcacagcaaaaatgtagaAgaagatgagcagcaacatca																								rs373885397		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:43931190A>C	ENST00000321596.5	-	7	953	c.754T>G	c.(754-756)Ttc>Gtc	p.F252V	CATSPER2_ENST00000354127.4_Missense_Mutation_p.F252V|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000355438.2_Missense_Mutation_p.F252V|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Missense_Mutation_p.F258V|CATSPER2_ENST00000396879.1_Missense_Mutation_p.F252V			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	252					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)		AAAATGTAGAAGAAGATGAGC	0.498																																																	0								A	VAL/PHE,VAL/PHE	0,4398		0,0,2199	122	96	105		754,754	4.1	1	15		105	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	CATSPER2	NM_054020.2,NM_172095.1	50,50	0,1,6494	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	252/529,252/531	43931190	1,12989	2199	4296	6495	SO:0001583	missense	0			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.754T>G	15.37:g.43931190A>C	ENSP00000321463:p.Phe252Val		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.F252V	ENST00000321596.5	37	c.754	CCDS10099.1	15	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078850	0.76528	0.0	1.16E-4	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95	4.13	4.13	0.48395	Ion transport (1);	0.167176	0.39544	N	0.001333	D	0.98188	0.9401	M	0.67569	2.06	0.36484	D	0.868059	D;D	0.58970	0.981;0.984	P;D	0.62955	0.852;0.909	D	0.99936	1.1357	10	0.72032	D	0.01	.	9.7453	0.40442	1.0:0.0:0.0:0.0	.	258;252	F8W9H2;Q96P56	.;CTSR2_HUMAN	V	252;252;258;252;252;252	ENSP00000380088:F252V;ENSP00000371180:F258V;ENSP00000321463:F252V;ENSP00000339137:F252V;ENSP00000347613:F252V	ENSP00000299989:F252V	F	-	1	0	CATSPER2	41718482	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.342000	0.43992	1.864000	0.54056	0.369000	0.22263	TTC	CATSPER2	-	pfam_Ion_trans_dom	ENSG00000166762		0.498	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	-	0	67	0	A	NM_054020		43931190	-1	tier1	-	no_errors	ENST00000321596	ensembl	human	known	74_37	missense	45.10	28	23	SNP	1.000	C	C	43931190	A	C	43931190	3	2	150	1	0	0	0	0	1	0	0	0	2695	72	3	4	866	4	CATSPER2	15	43931190	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	9978773	43931190	58600202	175	38278	136	2									
CATSPER2	117155	genome.wustl.edu	37	chr15	43931194	43931194	+	Silent	SNP	G	G	A																															acagcaaaaatgtagaagaaGatgagcagcaacatcaagag																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:43931194G>A	ENST00000321596.5	-	7	949	c.750C>T	c.(748-750)atC>atT	p.I250I	CATSPER2_ENST00000354127.4_Silent_p.I250I|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000355438.2_Silent_p.I250I|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Silent_p.I256I|CATSPER2_ENST00000396879.1_Silent_p.I250I			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	250					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)		TGTAGAAGAAGATGAGCAGCA	0.493																																																	0													121	95	104					15																	43931194		2199	4296	6495	SO:0001819	synonymous_variant	0			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.750C>T	15.37:g.43931194G>A			Q8NHT9|Q96P54|Q96P55	Silent	SNP	pfam_Ion_trans_dom	p.I250	ENST00000321596.5	37	c.750	CCDS10099.1	15																																																																																			CATSPER2	-	pfam_Ion_trans_dom	ENSG00000166762		0.493	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	-	0	64	0	G	NM_054020		43931194	-1	tier1	-	no_errors	ENST00000321596	ensembl	human	known	74_37	silent	45.10	28	23	SNP	0.997	A	A	43931194	G	A	43931194	2	1	150	1	0	0	0	0	0	0	0	1	2695	932	33	3		3	CATSPER2	15	43931194	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	4	43931194	58600198	176	38279	136	2									
TNFAIP8L3	388121	genome.wustl.edu	37	chr15	51350297	51350297	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggagattggagagcacGttcctatcgaaggtgtattc	10	11	13	7	2	0	2	0	0	0	2	3	5	1	2	1	3	2	4	1	3	3	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:51350297G>A	ENST00000327536.5	-	3	759	c.660C>T	c.(658-660)aaC>aaT	p.N220N	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	220										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TGGAGAGCACGTTCCTATCGA	0.542																																																	0													98	82	88					15																	51350297		2196	4293	6489	SO:0001819	synonymous_variant	0			AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.660C>T	15.37:g.51350297G>A			Q6ZWD1	Silent	SNP	pfam_DUF758	p.N220	ENST00000327536.5	37	c.660	CCDS32241.1	15																																																																																			TNFAIP8L3	-	pfam_DUF758	ENSG00000183578		0.542	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L3	HGNC	protein_coding	OTTHUMT00000418661.1	-	0	22	0	G	NM_207381		51350297	-1	tier1	-	no_errors	ENST00000327536	ensembl	human	known	74_37	silent	60.00	16	24	SNP	0.251	A	A	51350297	G	A	51350297	2	1	150	1	0	0	0	0	0	0	0	1	16326	1136	40	1		1	TNFAIP8L3	15	51350297	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	7419103	51350297	51181095	177	38280											
DMXL2	23312	genome.wustl.edu	37	chr15	51839582	51839582	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccaaccagtcataggataCcacactttcaaaagacaatc	16	9	4	12	0	2	1	2	0	0	1	4	2	3	2	3	1	2	0	3	1	6	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:51839582C>T	ENST00000251076.5	-	7	878	c.591G>A	c.(589-591)tgG>tgA	p.W197*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W197*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W197*|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	197						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.W197C(1)		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)		TCATAGGATACCACACTTTCA	0.313																																																	1	Substitution - Missense(1)	kidney(1)											77	76	76					15																	51839582		2195	4293	6488	SO:0001587	stop_gained	0			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.591G>A	15.37:g.51839582C>T	ENSP00000251076:p.Trp197*		B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W197*	ENST00000251076.5	37	c.591	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467836	0.84533	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3281	0.94270	0.0:1.0:0.0:0.0	.	.	.	.	X	197	.	ENSP00000251076:W197X	W	-	3	0	DMXL2	49626874	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.398000	0.79919	2.588000	0.87417	0.585000	0.79938	TGG	DMXL2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000104093		0.313	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2		0	26	0	C	NM_015263		51839582	-1			no_errors	ENST00000543779	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	1.000	T	T	51839582	C	T	51839582	4	4	150	1	0	0	0	0	0	1	0	0	4609	508	18	3	8670	3	DMXL2	15	51839582	Nonsense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	489285	51839582	50691810	178	38281											
LINGO1	84894	genome.wustl.edu	37	chr15	77907093	77907093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggttgaagttgagccGccagcggcgccggaacaccc	7	5	14	15	5	0	2	0	2	0	0	0	3	0	3	5	3	4	2	5	3	2	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:77907093G>A	ENST00000355300.6	-	2	1330	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	LINGO1_ENST00000561030.1_Missense_Mutation_p.R380W	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	386	LRRCT.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AAGTTGAGCCGCCAGCGGCGC	0.622																																																	0													22	26	25					15																	77907093		2052	4188	6240	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1156C>T	15.37:g.77907093G>A	ENSP00000347451:p.Arg386Trp		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R386W	ENST00000355300.6	37	c.1156	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573503	0.45902	.	.	ENSG00000169783	ENST00000355300	T	0.55930	0.49	4.93	4.0	0.46444	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	P	0.52554	0.702	T	0.66081	-0.6012	10	0.49607	T	0.09	.	11.8745	0.52539	0.0:0.0:0.5114:0.4886	.	386	Q96FE5	LIGO1_HUMAN	W	386	ENSP00000347451:R386W	ENSP00000347451:R386W	R	-	1	2	LINGO1	75694148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.743000	0.38258	1.033000	0.39918	0.462000	0.41574	CGG	LINGO1	-	NULL	ENSG00000169783		0.622	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	-	0	69	0	G	NM_032808		77907093	-1	tier1	-	no_errors	ENST00000355300	ensembl	human	known	74_37	missense	30.48	73	32	SNP	1.000	A	A	77907093	G	A	77907093	3	1	150	1	0	0	0	0	1	0	0	0	8844	1086	38	1	710	1	LINGO1	15	77907093	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	26067511	77907093	24624299	179	38282											
MESDC2	23184	genome.wustl.edu	37	chr15	81271765	81271765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaagtccttgatctcccagGcgtagctcccatcgcgaagc	10	8	9	14	3	1	1	0	1	1	0	5	2	3	1	3	1	2	2	3	1	4	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:81271765G>T	ENST00000261758.4	-	3	586	c.500C>A	c.(499-501)gCc>gAc	p.A167D	MESDC2_ENST00000560244.1_5'Flank	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	167	Escort domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						GATCTCCCAGGCGTAGCTCCC	0.527																																																	0													75	70	72					15																	81271765		2203	4300	6503	SO:0001583	missense	0			D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.500C>A	15.37:g.81271765G>T	ENSP00000261758:p.Ala167Asp		B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	pfam_Mesoderm_development_cand-2	p.A167D	ENST00000261758.4	37	c.500	CCDS32308.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.631026	0.96682	.	.	ENSG00000117899	ENST00000261758	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.83848	0.5343	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84723	0.0741	9	0.87932	D	0	-14.4057	20.3342	0.98733	0.0:0.0:1.0:0.0	.	167	Q14696	MESD_HUMAN	D	167	.	ENSP00000261758:A167D	A	-	2	0	MESDC2	79058820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.430000	0.97488	2.822000	0.97130	0.650000	0.86243	GCC	MESDC2	-	pfam_Mesoderm_development_cand-2	ENSG00000117899		0.527	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MESDC2	HGNC	protein_coding	OTTHUMT00000417673.2		0	33	0	G	NM_015154		81271765	-1			no_errors	ENST00000261758	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	81271765	G	T	81271765	3	4	150	1	0	0	0	0	1	0	0	0	9519	1203	42	3	208	3	MESDC2	15	81271765	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	3364672	81271765	21259627	180	38283											
TMC3	342125	genome.wustl.edu	37	chr15	81638719	81638719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcacctcaatgctcatgCtgttaactttgtccaggaga	10	12	7	12	0	3	1	3	0	0	1	4	2	4	1	2	1	3	3	2	1	2	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:81638719C>T	ENST00000359440.5	-	12	1394	c.1259G>A	c.(1258-1260)aGc>aAc	p.S420N	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.S421N|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AATGCTCATGCTGTTAACTTT	0.532																																																	0													110	115	113					15																	81638719		2051	4211	6262	SO:0001583	missense	0			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.1259G>A	15.37:g.81638719C>T	ENSP00000352413:p.Ser420Asn			Missense_Mutation	SNP	pfam_TMC	p.S420N	ENST00000359440.5	37	c.1259	CCDS45324.1	15	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760746	0.31137	.	.	ENSG00000188869	ENST00000359440	T	0.56941	0.43	4.8	4.8	0.61643	.	0.317425	0.33916	N	0.004422	T	0.48277	0.1491	L	0.53249	1.67	0.52099	D	0.999943	B;B	0.22346	0.068;0.063	B;B	0.24974	0.048;0.057	T	0.41161	-0.9524	10	0.25106	T	0.35	-30.3105	14.0271	0.64592	0.1517:0.8483:0.0:0.0	.	420;420	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	N	420	ENSP00000352413:S420N	ENSP00000352413:S420N	S	-	2	0	TMC3	79425774	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	1.556000	0.36288	2.347000	0.79759	0.655000	0.94253	AGC	TMC3	-	NULL	ENSG00000188869		0.532	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	-	0	34	0	C	NM_181841		81638719	-1	tier1	-	no_errors	ENST00000359440	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	81638719	C	T	81638719	3	4	150	1	0	0	0	0	1	0	0	0	16033	797	28	3	2087	3	TMC3	15	81638719	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	366954	81638719	20892673	181	38284											
BNC1	646	genome.wustl.edu	37	chr15	83932270	83932270	+	Missense_Mutation	SNP	T	T	C	0	1	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	gtgactgaggactgcaggccTcctgctcatcttcactgacc	7	10	10	14	0	3	3	2	3	1	0	4	4	4	4	3	2	2	2	3	2	0	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:83932270T>C	ENST00000345382.2	-	4	1818	c.1733A>G	c.(1732-1734)gAg>gGg	p.E578G	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E571G	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	578					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGCAGGCCTCCTGCTCATC	0.507																																																	0													181	169	173					15																	83932270		2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1733A>G	15.37:g.83932270T>C	ENSP00000307041:p.Glu578Gly		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E578G	ENST00000345382.2	37	c.1733	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007369	0.75046	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.51071	0.72	4.93	4.93	0.64822	.	0.363991	0.30159	N	0.010280	T	0.66147	0.2760	M	0.65975	2.015	0.58432	D	0.999997	D;B	0.89917	1.0;0.114	D;B	0.87578	0.998;0.055	T	0.66956	-0.5792	10	0.45353	T	0.12	-28.2063	14.7493	0.69513	0.0:0.0:0.0:1.0	.	571;578	F5GY04;Q01954	.;BNC1_HUMAN	G	578;571	ENSP00000307041:E578G	ENSP00000307041:E578G	E	-	2	0	BNC1	81723274	1.000000	0.71417	0.937000	0.37676	0.802000	0.45316	4.076000	0.57591	2.067000	0.61834	0.533000	0.62120	GAG	BNC1	-	NULL	ENSG00000169594		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	-	0	61	0	T	NM_001717		83932270	-1	tier1	-	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	67.35	16	33	SNP	0.993	C	C	83932270	T	C	83932270	3	2	150	1	0	0	0	0	1	0	0	0	1476	1551	54	4	1259	4	BNC1	15	83932270	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	2293551	83932270	18599122	182	38285											
NTRK3	4916	genome.wustl.edu	37	chr15	88726700	88726700	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgggctgaatgctccgaAgtcctgagttcttgatggtc	6	13	12	10	1	2	3	0	3	2	0	5	4	4	3	2	2	1	3	2	2	2	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:88726700A>G	ENST00000360948.2	-	4	505	c.344T>C	c.(343-345)cTt>cCt	p.L115P	NTRK3_ENST00000357724.2_Missense_Mutation_p.L115P|NTRK3_ENST00000558676.1_Missense_Mutation_p.L115P|NTRK3_ENST00000540489.2_Missense_Mutation_p.L115P|NTRK3_ENST00000542733.2_Missense_Mutation_p.L17P|NTRK3_ENST00000317501.3_Missense_Mutation_p.L115P|NTRK3_ENST00000355254.2_Missense_Mutation_p.L115P|NTRK3_ENST00000394480.2_Missense_Mutation_p.L115P|NTRK3_ENST00000557856.1_Missense_Mutation_p.L115P	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	115					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)			AATGCTCCGAAGTCCTGAGTT	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													123	123	123					15																	88726700		2201	4299	6500	SO:0001583	missense	0			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.344T>C	15.37:g.88726700A>G	ENSP00000354207:p.Leu115Pro		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L115P	ENST00000360948.2	37	c.344	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079591	0.76528	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	H	0.97918	4.105	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.996;1.0	D;D;D;D;P;D	0.91635	0.999;0.999;0.998;0.974;0.885;0.999	D	0.92271	0.5825	10	0.87932	D	0	.	11.7404	0.51790	1.0:0.0:0.0:0.0	.	17;115;115;115;115;115	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	P	115;115;115;115;17;115;115	ENSP00000377990:L115P;ENSP00000354207:L115P;ENSP00000350356:L115P;ENSP00000347397:L115P;ENSP00000437773:L17P;ENSP00000444673:L115P;ENSP00000318328:L115P	ENSP00000318328:L115P	L	-	2	0	NTRK3	86527704	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	6.797000	0.75150	2.018000	0.59344	0.533000	0.62120	CTT	NTRK3	-	prints_Tyr_kinase_NGF_rcpt	ENSG00000140538		0.547	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		-	0	49	0	A			88726700	-1	tier1	-	no_errors	ENST00000360948	ensembl	human	known	74_37	missense	64.81	19	35	SNP	0.999	G	G	88726700	A	G	88726700	3	3	150	1	0	0	0	0	1	0	0	0	10747	72	3	4	2501	4	NTRK3	15	88726700	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	4794430	88726700	13804692	183	38286											
TARSL2	123283	genome.wustl.edu	37	chr15	102263299	102263299	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcaacaacttacctcGctgtcagcctcgctttcctt	8	11	5	17	2	1	0	1	0	0	0	4	0	2	0	4	0	5	3	4	0	3	3	rs142596036	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:102263299G>C	ENST00000335968.3	-	2	582	c.366C>G	c.(364-366)agC>agG	p.S122R		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	122					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AACTTACCTCGCTGTCAGCCT	0.328																																																	0													142	122	128					15																	102263299		2203	4300	6503	SO:0001583	missense	0			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.366C>G	15.37:g.102263299G>C	ENSP00000338093:p.Ser122Arg		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.S122R	ENST00000335968.3	37	c.366	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	.	0.235	-1.017980	0.02078	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	2.79	-1.05	0.10036	.	1.789500	0.02950	N	0.141569	T	0.13713	0.0332	N	0.02539	-0.55	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.12477	-1.0546	9	0.14252	T	0.57	-1.0461	3.0754	0.06245	0.453:0.2526:0.2944:0.0	.	122	A2RTX5	SYTC2_HUMAN	R	122	.	ENSP00000329291:S122R	S	-	3	2	TARSL2	100080822	0.001000	0.12720	0.003000	0.11579	0.063000	0.16089	-0.661000	0.05311	-0.217000	0.10033	-0.501000	0.04562	AGC	TARSL2	-	NULL	ENSG00000185418		0.328	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	-	0	61	0	G	NM_152334		102263299	-1	tier1	-	no_errors	ENST00000335968	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.004	C	C	102263299	G	C	102263299	3	2	150	1	0	0	0	0	1	0	0	0	15608	1078	38	5	2114	5	TARSL2	15	102263299	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	13536599	102263299	268093	184	38287											
MPG	4350	genome.wustl.edu	37	chr16	135445	135445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcactggagcccctggaagGtctggagaccatgcgtcagc	9	6	14	12	1	2	1	1	0	1	1	2	4	2	3	3	4	4	1	3	4	1	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:135445G>A	ENST00000219431.4	+	5	797	c.566G>A	c.(565-567)gGt>gAt	p.G189D	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Missense_Mutation_p.G172D	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	189					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)				CCCCTGGAAGGTCTGGAGACC	0.657								Base excision repair (BER), DNA glycosylases																																									0													76	79	78					16																	135445		2203	4300	6503	SO:0001583	missense	0				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.566G>A	16.37:g.135445G>A	ENSP00000219431:p.Gly189Asp		G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	p.G189D	ENST00000219431.4	37	c.566	CCDS32346.1	16	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357271	0.61293	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.09	4.13	0.48395	Formyl transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66622	-0.5877	10	0.72032	D	0.01	-14.8777	12.5604	0.56277	0.0807:0.0:0.9193:0.0	.	184;189	Q5J9I4;P29372	.;3MG_HUMAN	D	172;172;184;189	ENSP00000388097:G172D;ENSP00000380918:G172D;ENSP00000348809:G184D;ENSP00000219431:G189D	ENSP00000219431:G189D	G	+	2	0	MPG	75445	1.000000	0.71417	0.855000	0.33649	0.440000	0.31957	9.711000	0.98735	1.142000	0.42291	0.462000	0.41574	GGT	MPG	-	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	ENSG00000103152		0.657	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPG	HGNC	protein_coding	OTTHUMT00000109121.4	-	0	66	0	G			135445	1	tier1	-	no_errors	ENST00000219431	ensembl	human	known	74_37	missense	53.85	24	28	SNP	1.000	A	A	135445	G	A	135445	3	1	150	1	0	0	0	0	1	0	0	0	9762	1261	44	3	608	3	MPG	16	135445	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09		135445	90219308	185	38288											
RAB40C	57799	genome.wustl.edu	37	chr16	675941	675941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttggttggaaaccggctgCacctggccttcaagcggcag	7	9	13	12	2	2	0	1	0	1	0	2	1	2	1	3	5	3	4	3	5	2	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:675941C>T	ENST00000248139.3	+	5	588	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	RAB40C_ENST00000539661.1_Missense_Mutation_p.H129Y|RAB40C_ENST00000538492.1_Missense_Mutation_p.H129Y|RAB40C_ENST00000535977.1_Missense_Mutation_p.H129Y	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	129					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				AAACCGGCTGCACCTGGCCTT	0.637																																					Melanoma(123;1631 1690 28262 44104 44957)												0													38	41	40					16																	675941		2198	4300	6498	SO:0001583	missense	0			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"RAB, member RAS oncogene"	18285	protein-coding gene	gene with protein product			"RAS-like, family 8, member C"	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.385C>T	16.37:g.675941C>T	ENSP00000248139:p.His129Tyr		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.H129Y	ENST00000248139.3	37	c.385	CCDS10413.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.227236	0.95173	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.22	5.22	0.72569	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86192	0.5874	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87526	0.2449	10	0.72032	D	0.01	.	17.7582	0.88456	0.0:1.0:0.0:0.0	.	129	Q96S21	RB40C_HUMAN	Y	129	ENSP00000438492:H129Y;ENSP00000445050:H129Y;ENSP00000438382:H129Y;ENSP00000248139:H129Y	ENSP00000248139:H129Y	H	+	1	0	RAB40C	615942	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	7.725000	0.84808	2.438000	0.82558	0.561000	0.74099	CAC	RAB40C	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000197562		0.637	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40C	HGNC	protein_coding	OTTHUMT00000109079.4		0	66	0	C	NM_021168		675941	1			no_errors	ENST00000248139	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	675941	C	T	675941	3	4	150	1	0	0	0	0	1	0	0	0	12987	710	25	3	403	3	RAB40C	16	675941	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	540496	675941	89678812	186	38289											
CHTF18	63922	genome.wustl.edu	37	chr16	845705	845705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccagaaccggatgagccaGatgaggaacctgatccagac	13	4	12	12	1	0	6	0	3	0	3	1	8	1	8	5	2	3	0	5	2	2	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:845705G>A	ENST00000262315.9	+	17	2259	c.2196G>A	c.(2194-2196)caG>caA	p.Q732Q	CHTF18_ENST00000455171.2_Silent_p.Q760Q|CHTF18_ENST00000317063.6_Silent_p.Q941Q	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	732					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)				GGATGAGCCAGATGAGGAACC	0.726																																																	0													15	19	17					16																	845705		2066	4175	6241	SO:0001819	synonymous_variant	0			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.2196G>A	16.37:g.845705G>A			B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q941	ENST00000262315.9	37	c.2823	CCDS45371.1	16																																																																																			CHTF18	-	NULL	ENSG00000127586		0.726	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF18	HGNC	protein_coding	OTTHUMT00000109061.3	-	0	27	0	G	NM_022092		845705	1	tier1	-	no_errors	ENST00000317063	ensembl	human	known	74_37	silent	66.67	7	14	SNP	0.721	A	A	845705	G	A	845705	2	1	150	1	0	0	0	0	0	0	0	1	3421	933	33	3		3	CHTF18	16	845705	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	169764	845705	89509048	187	38290											
BAIAP3	8938	genome.wustl.edu	37	chr16	1394468	1394469	+	Splice_Site	DEL	AG	AG	-																															gtcttggtggtgtctgttgcAgagaggcaaccgtgagtggt																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:1394468_1394469delAG	ENST00000324385.5	+	18	1865		c.e18-1		BAIAP3_ENST00000421665.2_Splice_Site|BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site|BAIAP3_ENST00000426824.3_Splice_Site|BAIAP3_ENST00000397489.1_Splice_Site	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3						G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGTCTGTTGCAGAGAGGCAACC	0.609																																																	0																																										SO:0001630	splice_region_variant	0			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1708-1AG>-	16.37:g.1394472_1394473delAG			A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Splice_Site	DEL	-	e18-1	ENST00000324385.5	37	c.1708-2_1708-1	CCDS10434.1	16																																																																																			BAIAP3	-	-	ENSG00000007516		0.609	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3		0	20	0	AG		Intron	1394469	1	tier1		no_errors	ENST00000324385	ensembl	human	known	74_37	splice_site_del	60.00	6	9	DEL	1.000:1.000	-	-	1394469	AG	-	1394468	8	5	150	1	0	1	0	1	0	0	1	0	1305	202	7	0	1776	0	BAIAP3	16	1394468	Splice_Site	DEL	AG	TCGA-R6-A8WC-01A-11D-A37C-09	548763	1394468	88960285	188	38291											
CLCN7	1186	genome.wustl.edu	37	chr16	1500530	1500530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtaggacagggagatccCaaagagccggccccaggcag	12	2	16	11	1	0	2	0	0	0	2	1	5	1	3	4	5	1	2	4	5	2	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:1500530C>T	ENST00000382745.4	-	17	2190	c.1585G>A	c.(1585-1587)Ggg>Agg	p.G529R	CLCN7_ENST00000448525.1_Missense_Mutation_p.G505R|CLCN7_ENST00000262318.8_Missense_Mutation_p.G505R|LA16c-390E6.4_ENST00000563610.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	529					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)				AGGGAGATCCCAAAGAGCCGG	0.701																																																	0													27	31	30					16																	1500530		2166	4290	6456	SO:0001583	missense	0			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.1585G>A	16.37:g.1500530C>T	ENSP00000372193:p.Gly529Arg		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.G529R	ENST00000382745.4	37	c.1585	CCDS32361.1	16	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977906	0.92982	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D;D	0.96136	-3.92;-3.79;-3.92	4.48	4.48	0.54585	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.99780	1.1027	10	0.87932	D	0	-33.0997	16.0742	0.80958	0.0:1.0:0.0:0.0	.	505;529	E9PDB9;P51798	.;CLCN7_HUMAN	R	505;482;529;471	ENSP00000410907:G505R;ENSP00000262318:G482R;ENSP00000372193:G529R	ENSP00000262318:G482R	G	-	1	0	CLCN7	1440531	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.634000	0.83273	2.194000	0.70268	0.462000	0.41574	GGG	CLCN7	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000103249		0.701	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	-	0	85	0	C	NM_001287		1500530	-1	tier1	-	no_errors	ENST00000382745	ensembl	human	known	74_37	missense	42.86	48	36	SNP	1.000	T	T	1500530	C	T	1500530	3	4	150	1	0	0	0	0	1	0	0	0	3475	594	21	3	868	3	CLCN7	16	1500530	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	106062	1500530	88854223	189	38292											
HN1L	90861	genome.wustl.edu	37	chr16	1735557	1735557	+	Silent	SNP	T	T	C	0	1	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	tttggaccaacagaagaaccTcagaacatacccaagaggac	17	5	8	11	0	1	4	1	0	0	4	1	6	1	6	3	2	4	0	3	2	6	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:1735557T>C	ENST00000248098.3	+	2	219	c.162T>C	c.(160-162)ccT>ccC	p.P54P	HN1L_ENST00000561516.1_Silent_p.P54P|LA16c-431H6.6_ENST00000454337.1_3'UTR|HN1L_ENST00000562684.1_Silent_p.P82P|HN1L_ENST00000569765.1_Silent_p.P82P|HN1L_ENST00000569256.1_Intron|HN1L_ENST00000382711.5_Silent_p.P38P|HN1L_ENST00000382710.4_Silent_p.P42P	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	54						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						CAGAAGAACCTCAGAACATAC	0.428																																																	0													81	83	82					16																	1735557		2199	4300	6499	SO:0001819	synonymous_variant	0			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.162T>C	16.37:g.1735557T>C			B1AJY2|Q6EIC7	Silent	SNP	NULL	p.P54	ENST00000248098.3	37	c.162	CCDS10441.1	16																																																																																			HN1L	-	NULL	ENSG00000206053		0.428	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HN1L	HGNC	protein_coding	OTTHUMT00000109086.2		0	61	0	T	NM_144570		1735557	1			no_errors	ENST00000248098	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.992	C	C	1735557	T	C	1735557	2	2	150	1	0	0	0	0	0	0	0	1	7277	1538	54	4		4	HN1L	16	1735557	Silent	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	235027	1735557	88619196	190	38293											
PKD1	5310	genome.wustl.edu	37	chr16	2161095	2161095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggctggacagcaccagcGccagggggaacgtgccgctc	7	3	16	15	5	0	0	0	0	0	0	1	2	0	2	3	4	4	3	3	4	1	0	rs376991027		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:2161095G>A	ENST00000262304.4	-	15	4281	c.4073C>T	c.(4072-4074)gCg>gTg	p.A1358V	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A1358V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1358	PKD 8. {ECO:0000255|PROSITE- ProRule:PRU00151}.				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						CAGCACCAGCGCCAGGGGGAA	0.647																																																	0								G	VAL/ALA,VAL/ALA	0,4384		0,0,2192	34	36	35		4073,4073	-6.2	0	16		35	3,8589	3.0+/-9.4	0,3,4293	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	64,64	0,3,6485	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	1358/4303,1358/4304	2161095	3,12973	2192	4296	6488	SO:0001583	missense	0			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.4073C>T	16.37:g.2161095G>A	ENSP00000262304:p.Ala1358Val		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.A1358V	ENST00000262304.4	37	c.4073	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	10.53	1.377359	0.24944	0.0	3.49E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.60920	0.15;0.15	5.58	-6.23	0.02052	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.497642	0.22829	N	0.055140	T	0.36690	0.0976	N	0.22421	0.69	0.19300	N	0.99998	B;B	0.17852	0.02;0.024	B;B	0.20767	0.019;0.031	T	0.06899	-1.0801	10	0.34782	T	0.22	.	13.4112	0.60944	0.5853:0.0:0.4147:0.0	.	1358;1358	P98161-3;P98161	.;PKD1_HUMAN	V	1358;1358;1039	ENSP00000262304:A1358V;ENSP00000399501:A1358V	ENSP00000262304:A1358V	A	-	2	0	PKD1	2101096	0.937000	0.31787	0.000000	0.03702	0.002000	0.02628	1.754000	0.38369	-1.344000	0.02216	-0.401000	0.06369	GCG	PKD1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat	ENSG00000008710		0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0	111	0	G			2161095	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	missense	39.05	64	41	SNP	0.189	A	A	2161095	G	A	2161095	3	1	150	1	0	0	0	0	1	0	0	0	12002	1087	38	1	8966	1	PKD1	16	2161095	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	425538	2161095	88193658	191	38294											
ZSCAN10	84891	genome.wustl.edu	37	chr16	3139484	3139484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggatgcgctggtggcGcgccaggtgggcgctctggc	2	9	20	10	4	1	0	0	0	1	0	1	1	1	1	1	6	1	2	1	6	0	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:3139484G>A	ENST00000252463.2	-	5	1873	c.1786C>T	c.(1786-1788)Cgc>Tgc	p.R596C	RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R514C|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R257C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	596					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						CGCTGGTGGCGCGCCAGGTGG	0.711																																																	0													19	21	20					16																	3139484		2196	4294	6490	SO:0001583	missense	0			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.1786C>T	16.37:g.3139484G>A	ENSP00000252463:p.Arg596Cys		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R596C	ENST00000252463.2	37	c.1786	CCDS10493.1	16	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302875	0.40795	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.26660	1.72	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000136	T	0.48390	0.1497	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.976	T	0.46176	-0.9210	10	0.56958	D	0.05	-50.4633	11.6059	0.51031	0.0:0.0:0.8221:0.1779	.	257;529;596	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	C	529;596	ENSP00000252463:R596C	ENSP00000252463:R596C	R	-	1	0	ZSCAN10	3079485	0.000000	0.05858	0.988000	0.46212	0.956000	0.61745	0.417000	0.21214	2.504000	0.84457	0.561000	0.74099	CGC	ZSCAN10	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130182		0.711	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN10	HGNC	protein_coding	OTTHUMT00000437124.2	-	0	33	0	G	NM_032805		3139484	-1	tier1	-	no_errors	ENST00000252463	ensembl	human	known	74_37	missense	52.38	10	11	SNP	0.966	A	A	3139484	G	A	3139484	3	1	150	1	0	0	0	0	1	0	0	0	18275	1087	38	1	395	1	ZSCAN10	16	3139484	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	978389	3139484	87215269	192	38295											
ACSM3	6296	genome.wustl.edu	37	chr16	20808257	20808257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagtgggaagacaaaaaGaaatgaactgaggaagaaag	21	5	12	3	0	1	5	1	2	0	3	1	7	1	7	0	2	1	0	0	2	8	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:20808257G>T	ENST00000289416.5	+	14	2199	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	ERI2_ENST00000357967.4_3'UTR|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.R567I|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000569729.1_3'UTR|ERI2_ENST00000564349.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	575					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AAGACAAAAAGAAATGAACTG	0.323																																																	0													79	84	82					16																	20808257		2201	4300	6501	SO:0001583	missense	0			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1724G>T	16.37:g.20808257G>T	ENSP00000289416:p.Arg575Ile		O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R575I	ENST00000289416.5	37	c.1724	CCDS10589.1	16	.	.	.	.	.	.	.	.	.	.	G	30	5.054391	0.93793	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	T;T	0.62364	0.03;0.03	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.84247	0.5430	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86337	0.1702	10	0.87932	D	0	-1.0999	20.3011	0.98612	0.0:0.0:1.0:0.0	.	567;575	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	I	575;567	ENSP00000289416:R575I;ENSP00000395297:R567I	ENSP00000289416:R575I	R	+	2	0	ACSM3	20715758	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.314000	0.72848	2.804000	0.96469	0.650000	0.86243	AGA	ACSM3	-	NULL	ENSG00000005187		0.323	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM3	HGNC	protein_coding	OTTHUMT00000254414.2	-	0	68	0	G	NM_005622		20808257	1	tier1	-	no_errors	ENST00000289416	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	20808257	G	T	20808257	3	4	150	1	0	0	0	0	1	0	0	0	185	942	33	3	1867	3	ACSM3	16	20808257	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	17668773	20808257	69546496	193	38296											
DNAH3	55567	genome.wustl.edu	37	chr16	20996802	20996802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctttgtcctgcttcaggacaCggcagatcctagagatgtgc	8	11	11	11	1	1	2	1	0	0	2	3	4	3	3	2	2	2	2	2	2	1	3	rs200916697		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	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	5008	,	,		19647	0.001		0	False		,,,				2504	0																0													81	70	74					16																	20996802		2201	4300	6501	SO:0001583	missense	0			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	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.R2421H	ENST00000261383.3	37	c.7262	CCDS10594.1	16	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	DNAH3	-	superfamily_P-loop_NTPase	ENSG00000158486		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1		0	45	0	C	NM_017539		20996802	-1			no_errors	ENST00000261383	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	20996802	C	T	20996802	3	4	150	1	0	0	0	0	1	0	0	0	4617	536	19	1	5147	1	DNAH3	16	20996802	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	188545	20996802	69357951	194	38297											
KIF22	3835	genome.wustl.edu	37	chr16	29808342	29808342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtgatcccccctgtgtgCggggcatggacagctgctct	6	9	13	13	1	1	1	0	1	1	0	2	2	2	2	3	3	3	3	3	3	1	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:29808342C>T	ENST00000160827.4	+	2	239	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_5'UTR|KIF22_ENST00000561482.1_5'UTR|KIF22_ENST00000569382.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	67	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)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCCCTGTGTGCGGGGCATGGA	0.582																																																	0													115	107	110					16																	29808342		2197	4296	6493	SO:0001583	missense	0			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.199C>T	16.37:g.29808342C>T	ENSP00000160827:p.Arg67Trp		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R67W	ENST00000160827.4	37	c.199	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502003	0.85176	.	.	ENSG00000079616	ENST00000160827	T	0.73258	-0.73	5.8	5.8	0.92144	Kinesin, motor domain (4);	.	.	.	.	T	0.82235	0.4993	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.83134	-0.0112	9	0.87932	D	0	.	17.5256	0.87799	0.0:1.0:0.0:0.0	.	67	Q14807	KIF22_HUMAN	W	67	ENSP00000160827:R67W	ENSP00000160827:R67W	R	+	1	2	KIF22	29715843	0.961000	0.32948	0.354000	0.25760	0.922000	0.55478	2.243000	0.43115	2.738000	0.93877	0.655000	0.94253	CGG	KIF22	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000079616		0.582	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	-	0	36	0	C			29808342	1	tier1	-	no_errors	ENST00000160827	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.988	T	T	29808342	C	T	29808342	3	4	150	1	0	0	0	0	1	0	0	0	8317	759	27	1	205	1	KIF22	16	29808342	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	8811540	29808342	60546411	195	38298											
PPP4C	5531	genome.wustl.edu	37	chr16	30087741	30087741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accggcagatcgagcagctgCgtcgctgcgagctcatcaag	9	6	13	13	5	2	1	2	0	0	1	4	3	2	1	1	1	5	5	1	1	1	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:30087741C>T	ENST00000279387.7	+	2	211	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	PPP4C_ENST00000561610.1_Missense_Mutation_p.R15C	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	15					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						CGAGCAGCTGCGTCGCTGCGA	0.716																																																	0													29	26	27					16																	30087741		2196	4300	6496	SO:0001583	missense	0				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.43C>T	16.37:g.30087741C>T	ENSP00000279387:p.Arg15Cys		P33172	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.R15C	ENST00000279387.7	37	c.43	CCDS10669.1	16	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864492	0.71949	.	.	ENSG00000149923	ENST00000279387	T	0.06142	3.34	6.16	4.14	0.48551	.	0.050764	0.85682	D	0.000000	T	0.14743	0.0356	M	0.85462	2.755	0.80722	D	1	P	0.52316	0.952	P	0.44561	0.453	T	0.07083	-1.0791	10	0.59425	D	0.04	-14.8776	13.724	0.62748	0.3967:0.6033:0.0:0.0	.	15	P60510	PP4C_HUMAN	C	15	ENSP00000279387:R15C	ENSP00000279387:R15C	R	+	1	0	PPP4C	29995242	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	0.721000	0.25911	1.598000	0.50083	0.650000	0.86243	CGT	PPP4C	-	NULL	ENSG00000149923		0.716	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4C	HGNC	protein_coding	OTTHUMT00000255155.2	-	0	73	0	C	NM_002720		30087741	1	tier1	-	no_errors	ENST00000279387	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.998	T	T	30087741	C	T	30087741	3	4	150	1	0	0	0	0	1	0	0	0	12444	768	27	1	45	1	PPP4C	16	30087741	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	279399	30087741	60267012	196	38299											
PHKG2	5261	genome.wustl.edu	37	chr16	30764777	30764777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaacaacattgtgcatcGagatctgaagcccgagaata	14	8	9	10	2	1	3	0	1	1	2	2	5	1	3	2	0	5	1	2	0	5	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:30764777G>T	ENST00000563588.1	+	6	694	c.455G>T	c.(454-456)cGa>cTa	p.R152L	PHKG2_ENST00000328273.7_Missense_Mutation_p.R152L|RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Missense_Mutation_p.R152L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			ATTGTGCATCGAGATCTGAAG	0.542																																																	0													72	70	70					16																	30764777		2197	4300	6497	SO:0001583	missense	0			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.455G>T	16.37:g.30764777G>T	ENSP00000455607:p.Arg152Leu		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R152L	ENST00000563588.1	37	c.455	CCDS10690.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.454977	0.96223	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.60171	0.21;0.21	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38381	N	0.001704	T	0.79323	0.4426	M	0.87381	2.88	0.80722	D	1	D;D	0.56287	0.965;0.975	D;P	0.65233	0.933;0.889	T	0.82594	-0.0380	10	0.87932	D	0	-3.6489	18.4328	0.90632	0.0:0.0:1.0:0.0	.	152;152	P15735;P15735-2	PHKG2_HUMAN;.	L	152	ENSP00000329968:R152L;ENSP00000388571:R152L	ENSP00000329968:R152L	R	+	2	0	PHKG2	30672278	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.633000	0.89246	0.655000	0.94253	CGA	PHKG2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000156873		0.542	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHKG2	HGNC	protein_coding	OTTHUMT00000255531.2		0	46	0	G	NM_000294		30764777	1			no_errors	ENST00000563588	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	30764777	G	T	30764777	3	4	150	1	0	0	0	0	1	0	0	0	11886	1058	37	2	473	2	PHKG2	16	30764777	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	677036	30764777	59589976	197	38300											
ZNF423	23090	genome.wustl.edu	37	chr16	49670811	49670811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagttgcaggccgtgcagCggtacatcttcttctcattg	6	12	10	13	2	3	0	1	0	3	0	4	0	3	0	2	2	4	4	2	2	1	5	rs143285873		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:49670811C>T	ENST00000561648.1	-	4	2305	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H	ZNF423_ENST00000262383.2_Missense_Mutation_p.R751H|ZNF423_ENST00000562520.1_Missense_Mutation_p.R691H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R634H|ZNF423_ENST00000567169.1_Missense_Mutation_p.R634H|ZNF423_ENST00000562871.1_Missense_Mutation_p.R691H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R691H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	751					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)				GGCCGTGCAGCGGTACATCTT	0.592																																																	0								C	HIS/ARG	0,4396		0,0,2198	122	108	113		2252	5.1	1	16	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF423	NM_015069.2	29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	751/1285	49670811	1,12995	2198	4300	6498	SO:0001583	missense	0			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.2252G>A	16.37:g.49670811C>T	ENSP00000455426:p.Arg751His		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R751H	ENST00000561648.1	37	c.2252	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220501	0.58560	0.0	1.16E-4	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10192	2.9;2.93	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.31526	0.94	0.51012	D	0.999908	D	0.55385	0.971	P	0.51833	0.681	T	0.03259	-1.1055	9	.	.	.	.	18.4141	0.90562	0.0:1.0:0.0:0.0	.	751	Q2M1K9	ZN423_HUMAN	H	751;634	ENSP00000262383:R751H;ENSP00000442321:R634H	.	R	-	2	0	ZNF423	48228312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.352000	0.79861	0.561000	0.74099	CGC	ZNF423	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000102935		0.592	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	-	0	23	0	C	NM_015069		49670811	-1	tier1	rs143285873	no_errors	ENST00000262383	ensembl	human	known	74_37	missense	50.00	7	7	SNP	1.000	T	T	49670811	C	T	49670811	3	4	150	1	0	0	0	0	1	0	0	0	17946	768	27	1	1622	1	ZNF423	16	49670811	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	18906034	49670811	40683942	198	38301											
CIAPIN1	57019	genome.wustl.edu	37	chr16	57463119	57463119	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctatcactcagaagcaccTtttccccaggtttgaaggct	9	12	8	12	0	2	2	2	1	0	1	3	2	3	2	3	2	2	4	3	2	3	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:57463119T>C	ENST00000569979.1	-	6	750	c.704A>G	c.(703-705)aAg>aGg	p.K235R	CIAPIN1_ENST00000568940.1_Silent_p.K262K|CIAPIN1_ENST00000569246.1_5'Flank|CIAPIN1_ENST00000569370.1_Silent_p.K262K|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.K301R|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.K288R|CIAPIN1_ENST00000565961.1_Silent_p.K235K					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CAGAAGCACCTTTTCCCCAGG	0.567																																																	0													74	74	74					16																	57463119		2007	4181	6188	SO:0001583	missense	0			AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.704A>G	16.37:g.57463119T>C	ENSP00000458000:p.Lys235Arg			Missense_Mutation	SNP	pfam_Anamorsin	p.K301R	ENST00000569979.1	37	c.902		16	.	.	.	.	.	.	.	.	.	.	T	28.1	4.890896	0.91889	.	.	ENSG00000005194	ENST00000394391	T	0.36520	1.25	4.73	4.73	0.59995	.	0.330767	0.34178	N	0.004198	T	0.48840	0.1522	M	0.82517	2.595	0.44214	D	0.997046	P;P	0.39326	0.668;0.477	B;B	0.43867	0.434;0.371	T	0.56183	-0.8021	10	0.54805	T	0.06	-0.4465	13.7132	0.62680	0.0:0.0:0.0:1.0	.	288;301	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	R	301	ENSP00000377914:K301R	ENSP00000377914:K301R	K	-	2	0	CIAPIN1	56020620	1.000000	0.71417	0.922000	0.36590	0.942000	0.58702	5.597000	0.67577	1.903000	0.55091	0.459000	0.35465	AAG	CIAPIN1	-	pfam_Anamorsin	ENSG00000005194		0.567	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	CIAPIN1	HGNC	protein_coding	OTTHUMT00000432580.1	-	0	32	0	T	NM_020313		57463119	-1	tier1	-	no_errors	ENST00000394391	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	C	C	57463119	T	C	57463119	3	2	150	1	0	0	0	0	1	0	0	0	3426	1609	56	4	40	4	CIAPIN1	16	57463119	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	7792308	57463119	32891634	199	38302											
CDH11	1009	genome.wustl.edu	37	chr16	65032732	65032732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgtatttaatgttccCatcaccagagtcaatatctg	13	13	7	8	0	3	2	2	0	1	2	4	3	4	2	2	0	0	2	2	0	5	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:65032732C>G	ENST00000268603.4	-	4	871	c.256G>C	c.(256-258)Ggg>Cgg	p.G86R	CDH11_ENST00000394156.3_Missense_Mutation_p.G86R|CDH11_ENST00000566827.1_5'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	86	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTAATGTTCCCATCACCAGAG	0.408			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													101	86	91					16																	65032732		2202	4300	6502	SO:0001583	missense	0			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.256G>C	16.37:g.65032732C>G	ENSP00000268603:p.Gly86Arg		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G86R	ENST00000268603.4	37	c.256	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559363	0.86335	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390;ENST00000536902	T;T	0.53423	0.62;0.62	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.76350	0.3975	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.76071	0.987;0.926	T	0.81462	-0.0922	10	0.87932	D	0	.	18.7605	0.91849	0.0:1.0:0.0:0.0	.	86;86	P55287-2;P55287	.;CAD11_HUMAN	R	86;86;69;86	ENSP00000268603:G86R;ENSP00000377711:G86R	ENSP00000268603:G86R	G	-	1	0	CDH11	63590233	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.445000	0.80570	2.758000	0.94735	0.563000	0.77884	GGG	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.408	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	21	0	C	NM_033664		65032732	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	62.50	6	10	SNP	1.000	G	G	65032732	C	G	65032732	3	3	150	1	0	0	0	0	1	0	0	0	3104	594	21	5	2174	5	CDH11	16	65032732	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	7569613	65032732	25322021	200	38303											
PLCG2	5336	genome.wustl.edu	37	chr16	81934352	81934352	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgaccagctgccctcGcccagccagctgcgggagaa	8	5	13	15	2	0	2	0	1	0	1	1	3	0	2	4	1	6	3	4	1	1	0	rs369281824		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:81934352G>T	ENST00000359376.3	+	14	1543	c.1329G>T	c.(1327-1329)tcG>tcT	p.S443S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	443	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGCTGCCCTCGCCCAGCCAGC	0.637																																																	0													37	42	40					16																	81934352		2122	4235	6357	SO:0001819	synonymous_variant	0				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.1329G>T	16.37:g.81934352G>T			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.S443	ENST00000359376.3	37	c.1329	CCDS42204.1	16																																																																																			PLCG2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C	ENSG00000197943		0.637	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1		0	50	0	G			81934352	1			no_errors	ENST00000359376	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.047	T	T	81934352	G	T	81934352	2	4	150	1	0	0	0	0	0	0	0	1	12075	1074	38	2		2	PLCG2	16	81934352	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	16901620	81934352	8420401	201	38304											
CBFA2T3	863	genome.wustl.edu	37	chr16	88945831	88945831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacggctttctgcagctcCgacatggcctgccgcttcac	6	9	10	16	3	2	0	1	0	1	0	3	2	3	0	3	2	3	4	3	2	0	2	rs369464938		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:88945831C>T	ENST00000268679.4	-	11	1905	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	CBFA2T3_ENST00000448839.1_Silent_p.S427S|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Silent_p.S465S|CBFA2T3_ENST00000360302.2_Silent_p.S417S|CBFA2T3_ENST00000327483.5_Silent_p.S417S|RP11-830F9.5_ENST00000569249.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	503	Mediates interaction with PRKAR2A.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCTGCAGCTCCGACATGGCCT	0.652			T	RUNX1	AML								c|||	1	0.000199681	0	0.0014	5008	,	,		20957	0		0	False		,,,				2504	0							Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	0								C	,	0,4396		0,0,2198	72	59	63		1509,1251	-9.4	0.1	16		63	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	CBFA2T3	NM_005187.5,NM_175931.2	,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,	503/654,417/568	88945831	1,12993	2198	4299	6497	SO:0001819	synonymous_variant	0			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1509G>A	16.37:g.88945831C>T			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.S503	ENST00000268679.4	37	c.1509	CCDS10972.1	16																																																																																			CBFA2T3	-	prints_ETO	ENSG00000129993		0.652	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	-	0	62	0	C	NM_005187		88945831	-1	tier1	-	no_errors	ENST00000268679	ensembl	human	known	74_37	silent	32.69	35	17	SNP	0.034	T	T	88945831	C	T	88945831	2	4	150	1	0	0	0	0	0	0	0	1	2705	639	23	1		1	CBFA2T3	16	88945831	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	7011479	88945831	1408922	202	38305											
CHRNB1	1140	genome.wustl.edu	37	chr17	7351982	7351982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagggagggaaggacagcGccaggaagtcatcttctacc	11	5	16	9	1	3	0	1	0	2	0	3	5	3	5	2	5	2	0	2	5	3	2	rs202080837		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:7351982G>A	ENST00000306071.2	+	7	762	c.695G>A	c.(694-696)cGc>cAc	p.R232H	RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000536404.2_Missense_Mutation_p.R160H|CHRNB1_ENST00000576360.1_Missense_Mutation_p.R160H	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	232					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)	GAAGGACAGCGCCAGGAAGTC	0.562																																																	0													216	149	172					17																	7351982		2203	4300	6503	SO:0001583	missense	0			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.695G>A	17.37:g.7351982G>A	ENSP00000304290:p.Arg232His		B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R232H	ENST00000306071.2	37	c.695	CCDS11106.1	17	.	.	.	.	.	.	.	.	.	.	G	8.288	0.817019	0.16607	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	T;T	0.77750	-1.12;-1.12	5.24	-5.75	0.02384	Neurotransmitter-gated ion-channel ligand-binding (3);	0.554792	0.21009	N	0.081711	T	0.51500	0.1678	N	0.10972	0.075	0.39445	D	0.96731	B	0.10296	0.003	B	0.06405	0.002	T	0.01666	-1.1300	10	0.44086	T	0.13	.	8.5721	0.33576	0.6193:0.0:0.2692:0.1115	.	232	P11230	ACHB_HUMAN	H	232;160	ENSP00000304290:R232H;ENSP00000439209:R160H	ENSP00000304290:R232H	R	+	2	0	CHRNB1	7292706	0.149000	0.22717	0.000000	0.03702	0.028000	0.11728	-1.179000	0.03090	-1.548000	0.01712	-0.291000	0.09656	CGC	CHRNB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000170175		0.562	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3	-	0	38	0	G			7351982	1	tier1	rs202080837	no_errors	ENST00000306071	ensembl	human	known	74_37	missense	47.83	12	11	SNP	0.016	A	A	7351982	G	A	7351982	3	1	150	1	0	0	0	0	1	0	0	0	3397	1087	38	1	721	1	CHRNB1	17	7351982	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09		7351982	73843228	203	38306											
MYH1	4619	genome.wustl.edu	37	chr17	10404047	10404047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcagttgatcttctagagcgCggcacatcttttcaaggttt	8	15	9	9	2	5	2	2	1	3	1	5	2	5	2	0	2	1	3	0	2	2	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:10404047C>T	ENST00000226207.5	-	28	3855	c.3761G>A	c.(3760-3762)cGc>cAc	p.R1254H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1254					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						TTCTAGAGCGCGGCACATCTT	0.448																																																	0													141	126	131					17																	10404047		2203	4300	6503	SO:0001583	missense	0				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.3761G>A	17.37:g.10404047C>T	ENSP00000226207:p.Arg1254His		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1254H	ENST00000226207.5	37	c.3761	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196174	0.78902	.	.	ENSG00000109061	ENST00000226207	T	0.78924	-1.22	5.45	5.45	0.79879	Myosin tail (1);	0.000000	0.43110	U	0.000603	T	0.81959	0.4933	M	0.78916	2.43	0.80722	D	1	B	0.27140	0.169	B	0.33890	0.172	T	0.80598	-0.1311	10	0.59425	D	0.04	.	19.6413	0.95758	0.0:1.0:0.0:0.0	.	1254	P12882	MYH1_HUMAN	H	1254	ENSP00000226207:R1254H	ENSP00000226207:R1254H	R	-	2	0	MYH1	10344772	1.000000	0.71417	0.969000	0.41365	0.802000	0.45316	4.950000	0.63603	2.716000	0.92895	0.650000	0.86243	CGC	MYH1	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000109061		0.448	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0	67	0	C	NM_005963		10404047	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	44.93	38	31	SNP	1.000	T	T	10404047	C	T	10404047	3	4	150	1	0	0	0	0	1	0	0	0	10067	768	27	1	2110	1	MYH1	17	10404047	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	3052065	10404047	70791163	204	38307											
NCOR1	9611	genome.wustl.edu	37	chr17	16040727	16040727	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacacaatcaggaacactCtgtaagaaataaaacaatta	23	7	4	7	0	2	1	1	0	1	1	2	2	2	2	0	1	3	1	0	1	10	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:16040727C>A	ENST00000268712.3	-	14	1665		c.e14-1		RNU6-862P_ENST00000362804.1_RNA|NCOR1_ENST00000395851.1_Splice_Site|NCOR1_ENST00000395848.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						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)		CAGGAACACTCTGTAAGAAAT	0.299																																																	0													46	44	45					17																	16040727		2203	4299	6502	SO:0001630	splice_region_variant	0			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.1408-1G>T	17.37:g.16040727C>A			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Splice_Site	SNP	-	e13-1	ENST00000268712.3	37	c.1408-1	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750372	0.69533	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8687	0.88804	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15981452	1.000000	0.71417	0.976000	0.42696	0.840000	0.47671	7.403000	0.79983	2.528000	0.85240	0.650000	0.86243	.	NCOR1	-	-	ENSG00000141027		0.299	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5		0	30	0	C	NM_006311	Intron	16040727	-1			no_errors	ENST00000268712	ensembl	human	known	74_37	splice_site	10.71	25	3	SNP	1.000	A	A	16040727	C	A	16040727	5	1	150	1	0	0	0	0	0	0	1	0	10274	927	32	3	6047	3	NCOR1	17	16040727	Splice_Site	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	5636680	16040727	65154483	205	38308											
ALDOC	230	genome.wustl.edu	37	chr17	26901110	26901110	+	Silent	SNP	A	A	G	1	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	acagctgggggcacagtgcgAcgcagggcagtgacagttgc	9	5	17	10	2	0	1	0	1	0	0	0	2	0	1	0	3	3	5	0	3	0	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:26901110A>G	ENST00000226253.4	-	7	1249	c.774T>C	c.(772-774)cgT>cgC	p.R258R	PIGS_ENST00000543734.1_5'Flank|ALDOC_ENST00000395319.3_Silent_p.R230R|PIGS_ENST00000395346.2_5'Flank|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000308360.7_5'Flank|ALDOC_ENST00000395321.2_Silent_p.R258R	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	258					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|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)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GCACAGTGCGACGCAGGGCAG	0.602																																																	0													130	130	130					17																	26901110		2203	4300	6503	SO:0001819	synonymous_variant	0			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.774T>C	17.37:g.26901110A>G			B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Silent	SNP	pfam_Aldolase_I	p.R258	ENST00000226253.4	37	c.774	CCDS11236.1	17																																																																																			ALDOC	-	pfam_Aldolase_I	ENSG00000109107		0.602	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	-	0	36	0	A			26901110	-1	tier1	-	no_errors	ENST00000226253	ensembl	human	known	74_37	silent	30.43	32	14	SNP	0.999	G	G	26901110	A	G	26901110	2	3	150	1	0	0	0	0	0	0	0	1	509	262	10	4		4	ALDOC	17	26901110	Silent	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	10860383	26901110	54294100	206	38309											
ACCN1	40	genome.wustl.edu	37	chr17	31439044	31439044	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggtttgccatcctcGcctgagttaaacatgtaaca	12	10	9	10	1	0	2	0	1	0	1	2	2	1	2	3	1	4	4	3	1	3	3	rs201936906	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:31439044G>T	ENST00000359872.6	-	2	1358	c.597C>A	c.(595-597)ggC>ggA	p.G199G	ASIC2_ENST00000225823.2_Silent_p.G250G|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	199					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	TGCCATCCTCGCCTGAGTTAA	0.527																																																	0													117	96	103					17																	31439044		2203	4300	6503	SO:0001819	synonymous_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.597C>A	17.37:g.31439044G>T			E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.G250	ENST00000359872.6	37	c.750	CCDS42296.1	17																																																																																			ASIC2	-	pfam_Na+channel_ASC,tigrfam_EnaC	ENSG00000108684		0.527	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1	-	0	52	0	G	NM_183377, NM_001094		31439044	-1	tier1	-	no_errors	ENST00000225823	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T	T	31439044	G	T	31439044	2	4	150	1	0	0	0	0	0	0	0	1	128	1074	38	2		2	ACCN1	17	31439044	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	4537934	31439044	49756166	207	38310											
SLFN12	55106	genome.wustl.edu	37	chr17	33749083	33749083	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggttatctttcacatgcCaggaatcaggctctttagca	10	12	8	11	1	4	0	2	0	2	0	4	1	4	1	1	3	2	3	1	3	3	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:33749083C>T	ENST00000394562.1	-	4	1488	c.965G>A	c.(964-966)tGg>tAg	p.W322*	SLFN12_ENST00000304905.5_Nonsense_Mutation_p.W322*|SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000452764.3_Nonsense_Mutation_p.W322*			Q8IYM2	SLN12_HUMAN	schlafen family member 12	322							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTCACATGCCAGGAATCAGG	0.488																																																	0													95	89	91					17																	33749083		2203	4300	6503	SO:0001587	stop_gained	0			AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.965G>A	17.37:g.33749083C>T	ENSP00000378063:p.Trp322*		A8K711|Q9NP47	Nonsense_Mutation	SNP	pfam_ATPase_AAA-4	p.W322*	ENST00000394562.1	37	c.965	CCDS11295.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.694051	0.96793	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	.	.	.	3.49	0.191	0.15130	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.0942	0.06303	0.2091:0.5497:0.0:0.2412	.	.	.	.	X	322	.	ENSP00000302077:W322X	W	-	2	0	SLFN12	30773196	1.000000	0.71417	0.007000	0.13788	0.311000	0.27955	1.848000	0.39309	-0.018000	0.14079	0.436000	0.28706	TGG	SLFN12	-	pfam_ATPase_AAA-4	ENSG00000172123		0.488	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFN12	HGNC	protein_coding	OTTHUMT00000256491.1	-	0	45	0	C	NM_018042		33749083	-1	tier1	-	no_errors	ENST00000304905	ensembl	human	known	74_37	nonsense	67.65	22	46	SNP	0.046	T	T	33749083	C	T	33749083	4	4	150	1	0	0	0	0	0	1	0	0	14779	595	21	3	783	3	SLFN12	17	33749083	Nonsense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	2310039	33749083	47446127	208	38311											
ERBB2	2064	genome.wustl.edu	37	chr17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctttctacggacgtgggatCctgcaccctcgtctgccccc	4	10	9	18	3	2	0	0	0	2	0	4	2	3	2	5	2	3	1	5	2	1	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)											251	204	220					17																	37868208		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S310F	ENST00000269571.5	37	c.929	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	ENSG00000141736		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0	44	0	C			37868208	1	tier1	-	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	92.02	41	473	SNP	1.000	T	T	37868208	C	T	37868208	3	4	150	1	0	0	0	0	1	0	0	0	5222	855	30	3	959	3	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	4119125	37868208	43327002	209	38312											
KLHL10	317719	genome.wustl.edu	37	chr17	39998420	39998420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcggcagaatttttagaGctctcggtcactgaacttaa	10	13	9	9	2	3	3	1	1	2	2	5	3	3	3	0	2	2	2	0	2	4	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:39998420G>T	ENST00000293303.4	+	2	693	c.540G>T	c.(538-540)gaG>gaT	p.E180D		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	180					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AATTTTTAGAGCTCTCGGTCA	0.428																																																	0													101	90	93					17																	39998420		1881	4118	5999	SO:0001583	missense	0			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.540G>T	17.37:g.39998420G>T	ENSP00000293303:p.Glu180Asp		Q6NW28|Q96MC0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E180D	ENST00000293303.4	37	c.540	CCDS42340.1	17	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956228	0.34565	.	.	ENSG00000161594	ENST00000293303	T	0.69685	-0.42	5.73	4.71	0.59529	BTB/Kelch-associated (2);	0.342797	0.34362	N	0.004028	T	0.46190	0.1380	N	0.11364	0.135	0.36258	D	0.854386	B;B	0.09022	0.002;0.002	B;B	0.14578	0.011;0.007	T	0.47923	-0.9079	9	.	.	.	.	14.5281	0.67902	0.0:0.2194:0.7806:0.0	.	174;180	B4DXV2;Q6JEL2	.;KLH10_HUMAN	D	180	ENSP00000293303:E180D	.	E	+	3	2	KLHL10	37251946	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.607000	0.36836	2.696000	0.92011	0.655000	0.94253	GAG	KLHL10	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000161594		0.428	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL10	HGNC	protein_coding	OTTHUMT00000326535.1	-	0	53	0	G	NM_152467		39998420	1	tier1	-	no_errors	ENST00000293303	ensembl	human	known	74_37	missense	40.91	350	243	SNP	1.000	T	T	39998420	G	T	39998420	3	4	150	1	0	0	0	0	1	0	0	0	8393	962	34	3	546	3	KLHL10	17	39998420	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	2130212	39998420	41196790	210	38313											
STAT5B	6777	genome.wustl.edu	37	chr17	40354821	40354821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcacgtatccatcaacagCtttagctgccaagggaagaa	13	9	8	11	1	2	1	2	0	0	1	3	2	3	2	2	1	4	3	2	1	6	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:40354821C>T	ENST00000293328.3	-	17	2251	c.2083G>A	c.(2083-2085)Gct>Act	p.A695T		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	695					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)	CCATCAACAGCTTTAGCTGCC	0.448																																																	0													244	193	211					17																	40354821		2203	4300	6503	SO:0001583	missense	0			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.2083G>A	17.37:g.40354821C>T	ENSP00000293328:p.Ala695Thr		Q8WWS8	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.A695T	ENST00000293328.3	37	c.2083	CCDS11423.1	17	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333129	0.41297	.	.	ENSG00000173757	ENST00000293328	D	0.96232	-3.95	4.48	4.48	0.54585	SH2 motif (2);	0.202030	0.23889	U	0.043562	D	0.92293	0.7555	L	0.40543	1.245	0.53688	D	0.99997	B	0.06786	0.001	B	0.10450	0.005	D	0.87741	0.2585	10	0.15952	T	0.53	-10.8209	10.914	0.47124	0.0:0.9137:0.0:0.0863	.	695	P51692	STA5B_HUMAN	T	695	ENSP00000293328:A695T	ENSP00000293328:A695T	A	-	1	0	STAT5B	37608347	1.000000	0.71417	0.994000	0.49952	0.606000	0.37113	4.605000	0.61119	2.323000	0.78572	0.561000	0.74099	GCT	STAT5B	-	smart_SH2	ENSG00000173757		0.448	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	-	0	61	0	C	NM_012448		40354821	-1	tier1	-	no_errors	ENST00000293328	ensembl	human	known	74_37	missense	46.96	60	54	SNP	1.000	T	T	40354821	C	T	40354821	3	4	150	1	0	0	0	0	1	0	0	0	15316	797	28	3	292	3	STAT5B	17	40354821	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	356401	40354821	40840389	211	38314											
ATP6V0A1	535	genome.wustl.edu	37	chr17	40646421	40646421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacttcggtcatggcatttTaatgaccctttttgctgtgt	7	17	9	8	1	1	2	1	1	0	1	2	2	1	2	1	2	1	2	1	2	1	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:40646421T>C	ENST00000343619.4	+	12	1367	c.1244T>C	c.(1243-1245)tTa>tCa	p.L415S	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L415S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L372S|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L372S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L422S|MIR548AT_ENST00000578714.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L415S|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.L61S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	415					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)		CATGGCATTTTAATGACCCTT	0.388																																																	0													182	163	169					17																	40646421		2203	4300	6503	SO:0001583	missense	0			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.1244T>C	17.37:g.40646421T>C	ENSP00000342951:p.Leu415Ser		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	pfam_V-ATPase_116kDa_su	p.L422S	ENST00000343619.4	37	c.1265	CCDS45684.1	17	.	.	.	.	.	.	.	.	.	.	T	27.6	4.848448	0.91277	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;0.996;1.0;0.996	D;D;D;D;D	0.91635	0.985;0.985;0.984;0.999;0.931	D	0.97154	0.9833	10	0.87932	D	0	-19.386	15.7962	0.78412	0.0:0.0:0.0:1.0	.	372;372;422;415;415	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	S	415;415;415;422;372;61	ENSP00000342951:L415S;ENSP00000444676:L415S;ENSP00000377415:L415S;ENSP00000264649:L422S;ENSP00000443991:L372S;ENSP00000446377:L61S	ENSP00000264649:L422S	L	+	2	0	ATP6V0A1	37899947	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.987000	0.88182	2.138000	0.66242	0.459000	0.35465	TTA	ATP6V0A1	-	pfam_V-ATPase_116kDa_su	ENSG00000033627		0.388	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	-	0	68	0	T	NM_001130020		40646421	1	tier1	-	no_errors	ENST00000264649	ensembl	human	known	74_37	missense	21.35	70	19	SNP	1.000	C	C	40646421	T	C	40646421	3	2	150	1	0	0	0	0	1	0	0	0	1169	1764	61	4	1307	4	ATP6V0A1	17	40646421	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	291600	40646421	40548789	212	38315											
SNX11	29916	genome.wustl.edu	37	chr17	46190696	46190696	+	Missense_Mutation	SNP	T	T	C	0	1	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	cctttactgccaagacttccTgtgtgcggcgccgctaccgt	5	11	10	15	4	0	1	0	0	0	1	1	1	1	1	5	1	4	1	5	1	3	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:46190696T>C	ENST00000393405.2	+	5	517	c.163T>C	c.(163-165)Tgt>Cgt	p.C55R	SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000439357.2_Intron|SNX11_ENST00000359238.2_Missense_Mutation_p.C55R|SNX11_ENST00000582104.1_Missense_Mutation_p.C47R|SNX11_ENST00000580219.1_Missense_Mutation_p.C47R|SNX11_ENST00000452859.2_5'UTR	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	55	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CAAGACTTCCTGTGTGCGGCG	0.473																																																	0													192	186	188					17																	46190696		2203	4300	6503	SO:0001583	missense	0			AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"Sorting nexins"	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.163T>C	17.37:g.46190696T>C	ENSP00000377059:p.Cys55Arg		B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.C55R	ENST00000393405.2	37	c.163	CCDS11526.1	17	.	.	.	.	.	.	.	.	.	.	T	21.4	4.137384	0.77775	.	.	ENSG00000002919	ENST00000393405;ENST00000359238	T;T	0.38077	1.16;1.16	5.38	5.38	0.77491	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.51143	0.1657	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51647	-0.8679	10	0.56958	D	0.05	-0.7331	14.3782	0.66892	0.0:0.0:0.0:1.0	.	47;55	B4DPY5;Q9Y5W9	.;SNX11_HUMAN	R	55	ENSP00000377059:C55R;ENSP00000352175:C55R	ENSP00000352175:C55R	C	+	1	0	SNX11	43545695	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.410000	0.80065	2.046000	0.60703	0.455000	0.32223	TGT	SNX11	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000002919		0.473	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX11	HGNC	protein_coding	OTTHUMT00000443423.1	-	0	46	0	T			46190696	1	tier1	-	no_errors	ENST00000359238	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	C	C	46190696	T	C	46190696	3	2	150	1	0	0	0	0	1	0	0	0	14927	1580	55	4	173	4	SNX11	17	46190696	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	5544275	46190696	35004514	213	38316											
AATK	9625	genome.wustl.edu	37	chr17	79094874	79094874	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggctcacacccttcctgCgcctccttgagcacaaactc	7	9	8	17	1	1	1	1	1	0	0	4	1	3	1	4	2	3	2	4	2	1	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:79094874C>T	ENST00000326724.4	-	11	2886	c.2862G>A	c.(2860-2862)gcG>gcA	p.A954A	AATK_ENST00000417379.1_Silent_p.A851A	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	954					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)			ACCCTTCCTGCGCCTCCTTGA	0.677																																																	0													16	20	19					17																	79094874		1981	4145	6126	SO:0001819	synonymous_variant	0			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.2862G>A	17.37:g.79094874C>T			O75136|Q6ZN31|Q86X28	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A954	ENST00000326724.4	37	c.2862	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	C	0.125	-1.121225	0.01785	.	.	ENSG00000181409	ENST00000417379	.	.	.	4.79	-9.57	0.00562	.	.	.	.	.	T	0.23171	0.0560	.	.	.	0.24854	N	0.992385	.	.	.	.	.	.	T	0.09975	-1.0650	4	.	.	.	.	5.9939	0.19483	0.1041:0.4399:0.1194:0.3366	.	.	.	.	H	907	.	.	R	-	2	0	AATK	76709469	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.542000	0.00436	-4.400000	0.00051	-2.698000	0.00137	CGC	AATK	-	NULL	ENSG00000181409		0.677	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1		0	35	0	C	NM_004920		79094874	-1			no_errors	ENST00000326724	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.000	T	T	79094874	C	T	79094874	2	4	150	1	0	0	0	0	0	0	0	1	26	755	27	1		1	AATK	17	79094874	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	32904178	79094874	2100336	214	38317											
C17orf70	80233	genome.wustl.edu	37	chr17	79508409	79508409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagccctgggtggcctgctCtgtcaccatcgtctggggga	4	9	16	12	1	3	0	1	0	2	0	4	2	3	2	3	5	2	1	3	5	0	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:79508409C>T	ENST00000327787.8	-	8	2486	c.2440G>A	c.(2440-2442)Gag>Aag	p.E814K	C17orf70_ENST00000425898.2_Missense_Mutation_p.E463K|C17orf70_ENST00000537152.1_Missense_Mutation_p.E663K			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	814					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)			GTGGCCTGCTCTGTCACCATC	0.672																																																	0													80	66	71					17																	79508409		2200	4297	6497	SO:0001583	missense	0			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.2440G>A	17.37:g.79508409C>T	ENSP00000333283:p.Glu814Lys		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.E814K	ENST00000327787.8	37	c.2440	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	C	8.623	0.891782	0.17613	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.33654	1.4;1.4;1.4	3.85	1.72	0.24424	.	0.692929	0.13064	N	0.416605	T	0.29423	0.0733	L	0.39898	1.24	0.33091	D	0.537938	P;P	0.42908	0.573;0.793	B;B	0.40940	0.23;0.344	T	0.35871	-0.9771	10	0.27082	T	0.32	.	11.119	0.48277	0.0:0.6372:0.3628:0.0	.	814;463	Q0VG06;E7EVV8	FP100_HUMAN;.	K	814;463;187;663	ENSP00000333283:E814K;ENSP00000399674:E463K;ENSP00000440151:E663K	ENSP00000333283:E814K	E	-	1	0	C17orf70	77118884	0.035000	0.19736	0.115000	0.21578	0.004000	0.04260	1.247000	0.32815	0.369000	0.24510	-0.282000	0.10007	GAG	C17orf70	-	NULL	ENSG00000185504		0.672	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	-	0	59	0	C	NM_025161		79508409	-1	tier1	-	no_errors	ENST00000327787	ensembl	human	known	74_37	missense	31.71	56	26	SNP	0.560	T	T	79508409	C	T	79508409	3	4	150	1	0	0	0	0	1	0	0	0	1883	922	32	3	213	3	C17orf70	17	79508409	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	413535	79508409	1686801	215	38318											
RFNG	5986	genome.wustl.edu	37	chr17	80007652	80007652	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcccaggagcccctccacGatgtagccaactgtgcagtc	8	6	11	16	2	0	0	0	0	0	0	2	2	1	1	5	1	4	2	5	1	2	1	rs375305235		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:80007652G>A	ENST00000310496.4	-	6	736	c.729C>T	c.(727-729)atC>atT	p.I243I	GPS1_ENST00000320548.4_5'Flank|GPS1_ENST00000306823.6_5'Flank|RFNG_ENST00000584838.1_5'UTR|GPS1_ENST00000578552.1_5'Flank|GPS1_ENST00000355130.2_5'Flank|RFNG_ENST00000429557.3_Silent_p.I117I|GPS1_ENST00000392358.2_5'Flank	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	243					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	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)			GCCCCTCCACGATGTAGCCAA	0.672																																																	0								G		1,4401		0,1,2200	21	26	24		729	1.7	1	17		24	0,8598		0,0,4299	no	coding-synonymous	RFNG	NM_002917.1		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		243/332	80007652	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	0			BC069034	CCDS32773.1	17q25.3	2013-02-19	2006-11-13		ENSG00000169733	ENSG00000169733	2.4.1.222	"Beta 3-glycosyltransferases"	9974	protein-coding gene	gene with protein product		602578	"radical fringe (Drosophila) homolog", "radical fringe homolog (Drosophila)"			9187150	Standard	NM_002917		Approved		uc002kdj.3	Q9Y644	OTTHUMG00000178512	ENST00000310496.4:c.729C>T	17.37:g.80007652G>A			O00588	Silent	SNP	pfam_Fringe-like,pirsf_Fringe	p.I243	ENST00000310496.4	37	c.729	CCDS32773.1	17																																																																																			RFNG	-	pfam_Fringe-like,pirsf_Fringe	ENSG00000169733		0.672	RFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFNG	HGNC	protein_coding	OTTHUMT00000442263.1		0	20	0	G	NM_002917		80007652	-1			no_errors	ENST00000310496	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	A	A	80007652	G	A	80007652	2	1	150	1	0	0	0	0	0	0	0	1	13297	1048	37	1		1	RFNG	17	80007652	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	499243	80007652	1187558	216	38319											
SMAD4	4089	genome.wustl.edu	37	chr18	48591854	48591854	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcaggtaggagagacattTaaggttccttcaagctgccc	10	11	11	9	0	2	1	2	0	0	1	3	3	3	2	2	3	2	4	2	3	3	6			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr18:48591854T>A	ENST00000342988.3	+	9	1555	c.1017T>A	c.(1015-1017)ttT>ttA	p.F339L	SMAD4_ENST00000588745.1_Missense_Mutation_p.F243L|SMAD4_ENST00000398417.2_Missense_Mutation_p.F339L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	339	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.F339_S343del(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAGAGACATTTAAGGTTCCTT	0.438																																																	40	Whole gene deletion(36)|Deletion - In frame(2)|Unknown(2)	pancreas(26)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											267	229	242					18																	48591854		2203	4300	6503	SO:0001583	missense	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1017T>A	18.37:g.48591854T>A	ENSP00000341551:p.Phe339Leu		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.F339L	ENST00000342988.3	37	c.1017	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389544	0.82902	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.97553	-4.43;-4.43	5.86	4.69	0.59074	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.045571	0.85682	N	0.000000	D	0.98229	0.9414	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98183	1.0458	10	0.87932	D	0	.	8.3831	0.32483	0.0:0.1659:0.0:0.8341	.	339	Q13485	SMAD4_HUMAN	L	339	ENSP00000341551:F339L;ENSP00000381452:F339L	ENSP00000341551:F339L	F	+	3	2	SMAD4	46845852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.552000	0.23376	1.020000	0.39573	0.460000	0.39030	TTT	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	-	0	68	0	T	NM_005359		48591854	1	tier1	-	no_errors	ENST00000342988	ensembl	human	known	74_37	missense	80.00	5	20	SNP	1.000	A	A	48591854	T	A	48591854	3	1	150	1	0	0	0	0	1	0	0	0	14805	1751	61	5	1047	5	SMAD4	18	48591854	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09		48591854	29485394	217	38320											
SMAD4	4089	genome.wustl.edu	37	chr18	48604654	48604656	+	In_Frame_Del	DEL	TGA	TGA	-																															gctgctgctggaattggtgtTgatgaccttcgtcgcttatg																								rs377767368|rs121912578		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	TGA	TGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr18:48604654_48604656delTGA	ENST00000342988.3	+	12	2014_2016	c.1476_1478delTGA	c.(1474-1479)gttgat>gtt	p.D494del	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_In_Frame_Del_p.D398del|SMAD4_ENST00000398417.2_In_Frame_Del_p.D494del	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	494	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.D493N(2)|p.D493A(1)|p.D493H(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAATTGGTGTTGATGACCTTCGT	0.458																																																	42	Whole gene deletion(36)|Substitution - Missense(4)|Unknown(2)	pancreas(28)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)																																								SO:0001651	inframe_deletion	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1476_1478delTGA	18.37:g.48604657_48604659delTGA	ENSP00000341551:p.Asp494del		A8K405	In_Frame_Del	DEL	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.D494in_frame_del	ENST00000342988.3	37	c.1476_1478	CCDS11950.1	18																																																																																			SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.458	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3		0	58	0	TGA	NM_005359		48604656	1	tier1		no_errors	ENST00000342988	ensembl	human	known	74_37	in_frame_del	73.91	6	17	DEL	0.988:1.000:1.000	-	-	48604656	TGA	-	48604654	7	5	150	1	0	1	0	1	0	0	0	0	14805	1799	63	0	1518	0	SMAD4	18	48604654	In_Frame_Del	DEL	TGA	TCGA-R6-A8WC-01A-11D-A37C-09	12800	48604654	29472594	218	38321											
MBD2	8932	genome.wustl.edu	37	chr18	51690975	51690975	+	Frame_Shift_Del	DEL	C	C	-																															agcagggttcttttccacagCagcggagacttgccctgtga																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr18:51690975delC	ENST00000256429.3	-	5	1255	c.1027delG	c.(1027-1029)gctfs	p.A343fs		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	343					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		TTTTCCACAGCAGCGGAGACT	0.478																																																	0													125	112	116					18																	51690975		2203	4300	6503	SO:0001589	frameshift_variant	0			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1027delG	18.37:g.51690975delC	ENSP00000256429:p.Ala343fs		O95242|Q9UIS8	Frame_Shift_Del	DEL	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.A343fs	ENST00000256429.3	37	c.1027	CCDS11953.1	18																																																																																			MBD2	-	NULL	ENSG00000134046		0.478	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD2	HGNC	protein_coding	OTTHUMT00000256003.2		0	53	0	C	NM_003927		51690975	-1	tier1		no_errors	ENST00000256429	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-	-	51690975	C	-	51690975	7	5	150	1	0	1	0	1	0	0	0	0	9381	710	25	0	216	0	MBD2	18	51690975	Frame_Shift_Del	DEL	C	TCGA-R6-A8WC-01A-11D-A37C-09	3086321	51690975	26386273	219	38322											
MIER2	54531	genome.wustl.edu	37	chr19	311876	311876	+	Frame_Shift_Del	DEL	C	C	-																															ggatcaggtgaaagttctttCcatgcacacggaagccgtgc																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:311876delC	ENST00000264819.4	-	10	963	c.953delG	c.(952-954)ggafs	p.G318fs		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	318	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAGTTCTTTCCATGCACACG	0.617																																																	0													119	86	97					19																	311876		2203	4300	6503	SO:0001589	frameshift_variant	0			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.953delG	19.37:g.311876delC	ENSP00000264819:p.Gly318fs		Q9ULM7	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.G318fs	ENST00000264819.4	37	c.953	CCDS32855.1	19																																																																																			MIER2	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000105556		0.617	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1		0	40	0	C	XM_041843		311876	-1	tier1		no_errors	ENST00000264819	ensembl	human	known	74_37	frame_shift_del	20.00	8	2	DEL	1.000	-	-	311876	C	-	311876	7	5	150	1	0	1	0	1	0	0	0	0	9619	855	30	0	704	0	MIER2	19	311876	Frame_Shift_Del	DEL	C	TCGA-R6-A8WC-01A-11D-A37C-09		311876	58817107	220	38323											
TMEM146	257062	genome.wustl.edu	37	chr19	5748202	5748202	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaccgtccgggtgaaaaaAggagaccagaccttgttttc	12	8	11	10	2	0	3	0	1	0	2	2	5	1	3	4	2	0	1	4	2	3	3	rs371809557		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:5748202A>G	ENST00000381624.3	+	10	901	c.840A>G	c.(838-840)aaA>aaG	p.K280K	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	280					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)											GGGTGAAAAAAGGAGACCAGA	0.512																																																	0													105	112	110					19																	5748202		1978	4143	6121	SO:0001819	synonymous_variant	0			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.840A>G	19.37:g.5748202A>G			Q6ZRP1	Silent	SNP	superfamily_WD40_repeat_dom	p.K280	ENST00000381624.3	37	c.840	CCDS12149.2	19																																																																																			CATSPERD	-	superfamily_WD40_repeat_dom	ENSG00000174898		0.512	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	-	0	41	0	A	NM_152784		5748202	1	tier1	-	no_errors	ENST00000381624	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.000	G	G	5748202	A	G	5748202	2	3	150	1	0	0	0	0	0	0	0	1	16107	69	3	4		4	TMEM146	19	5748202	Silent	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	5436326	5748202	53380781	221	38324											
NWD1	284434	genome.wustl.edu	37	chr19	16902312	16902312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtctgtggagctcagctaCgggaaaacttcaggggaagc	11	7	14	9	1	3	0	2	0	1	0	3	3	3	3	0	4	5	2	0	4	4	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:16902312C>T	ENST00000552788.1	+	12	3092	c.3092C>T	c.(3091-3093)aCg>aTg	p.T1031M	NWD1_ENST00000339803.6_Missense_Mutation_p.T896M|NWD1_ENST00000379808.3_Missense_Mutation_p.T1031M|NWD1_ENST00000524140.2_Missense_Mutation_p.T1031M|NWD1_ENST00000523826.1_Missense_Mutation_p.T825M|NWD1_ENST00000549814.1_Missense_Mutation_p.T1031M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1031							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTCAGCTACGGGAAAACTT	0.542																																																	0													104	85	91					19																	16902312		2203	4300	6503	SO:0001583	missense	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3092C>T	19.37:g.16902312C>T	ENSP00000447224:p.Thr1031Met		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1031M	ENST00000552788.1	37	c.3092		19	.	.	.	.	.	.	.	.	.	.	C	9.850	1.193418	0.22037	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.53423	1.35;0.62;1.35;3.06;0.99;3.06	5.34	2.07	0.26955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.246709	0.38720	N	0.001584	T	0.26231	0.0640	N	0.19112	0.55	0.09310	N	1	P;P;D	0.53151	0.822;0.939;0.958	B;B;B	0.38378	0.074;0.272;0.194	T	0.14531	-1.0469	10	0.51188	T	0.08	-5.7544	7.2985	0.26408	0.0:0.7234:0.0:0.2766	.	1031;1031;896	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	896;1031;1031;1031;825;1031;896	ENSP00000428579:T1031M;ENSP00000447548:T1031M;ENSP00000369136:T1031M;ENSP00000428955:T825M;ENSP00000447224:T1031M;ENSP00000340159:T896M	ENSP00000340159:T896M	T	+	2	0	NWD1	16763312	0.268000	0.24133	0.321000	0.25320	0.001000	0.01503	1.741000	0.38238	0.252000	0.21531	-0.768000	0.03414	ACG	NWD1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000188039		0.542	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1		0	40	0	C	NM_001007525		16902312	1			no_errors	ENST00000379808	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.038	T	T	16902312	C	T	16902312	3	4	150	1	0	0	0	0	1	0	0	0	10820	536	19	1	2725	1	NWD1	19	16902312	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	11154110	16902312	42226671	222	38325											
UNC13A	23025	genome.wustl.edu	37	chr19	17738353	17738353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctgagctcatccaagacGttattgagtttcacctgaag	10	11	10	10	2	2	4	2	3	0	1	3	4	3	4	2	1	1	4	2	1	3	3	rs539091973		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:17738353G>A	ENST00000519716.2	-	33	3884	c.3885C>T	c.(3883-3885)aaC>aaT	p.N1295N	UNC13A_ENST00000550896.1_Silent_p.N1293N|UNC13A_ENST00000551649.1_Silent_p.N1295N|UNC13A_ENST00000252773.7_Silent_p.N1295N|UNC13A_ENST00000552293.1_Silent_p.N1295N|UNC13A_ENST00000428389.2_Silent_p.N1383N	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1295					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)	p.N1295N(1)|p.N1383N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATCCAAGACGTTATTGAGTT	0.572													G|||	1	0.000199681	0	0	5008	,	,		19437	0.001		0	False		,,,				2504	0																2	Substitution - coding silent(2)	endometrium(2)											25	28	27					19																	17738353		1958	4145	6103	SO:0001819	synonymous_variant	0			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.3885C>T	19.37:g.17738353G>A			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.N1383	ENST00000519716.2	37	c.4149	CCDS46013.2	19																																																																																			UNC13A	-	NULL	ENSG00000130477		0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2		0	22	0	G	XM_038604		17738353	-1			no_errors	ENST00000428389	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.996	A	A	17738353	G	A	17738353	2	1	150	1	0	0	0	0	0	0	0	1	17033	1136	40	1		1	UNC13A	19	17738353	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	836041	17738353	41390630	223	38326											
JAK3	3718	genome.wustl.edu	37	chr19	17952208	17952208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccttacgtgatggggcCgtggcactgctcggccactt	5	10	14	12	3	0	1	0	1	0	0	2	1	1	1	3	5	2	2	3	5	1	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:17952208C>A	ENST00000527670.1	-	7	1161	c.1132G>T	c.(1132-1134)Ggc>Tgc	p.G378C	JAK3_ENST00000534444.1_Missense_Mutation_p.G378C|JAK3_ENST00000458235.1_Missense_Mutation_p.G378C|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	378	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GTGATGGGGCCGTGGCACTGC	0.657		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													15	15	15					19																	17952208		2166	4219	6385	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1132G>T	19.37:g.17952208C>A	ENSP00000432511:p.Gly378Cys		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G378C	ENST00000527670.1	37	c.1132	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349766	0.82132	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.64991	-0.13;-0.13;-0.13	4.74	4.74	0.60224	SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.82193	2.58	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	0.83917	0.0299	10	0.87932	D	0	-34.716	15.1911	0.73044	0.0:1.0:0.0:0.0	.	378;378;378	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	C	378	ENSP00000391676:G378C;ENSP00000432511:G378C;ENSP00000436421:G378C	ENSP00000413248:G378C	G	-	1	0	JAK3	17813208	1.000000	0.71417	0.986000	0.45419	0.739000	0.42172	7.020000	0.76419	2.195000	0.70347	0.313000	0.20887	GGC	JAK3	-	smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2	ENSG00000105639		0.657	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	-	0	61	0	C	NM_000215		17952208	-1	tier1	-	no_errors	ENST00000458235	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	17952208	C	A	17952208	3	1	150	1	0	0	0	0	1	0	0	0	7966	652	23	2	2310	2	JAK3	19	17952208	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	213855	17952208	41176775	224	38327											
KCNN1	3780	genome.wustl.edu	37	chr19	18096255	18096255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtgtgtgcctgctcactgGcatcatggtaagggtgaggg	6	10	18	7	0	2	1	2	1	0	0	2	1	2	1	1	5	2	3	1	5	1	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:18096255G>A	ENST00000222249.9	+	6	1371	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	351					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)	CTGCTCACTGGCATCATGGTA	0.607																																																	0													108	113	112					19																	18096255		2196	4291	6487	SO:0001583	missense	0			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.1052G>A	19.37:g.18096255G>A	ENSP00000476519:p.Gly351Asp		Q5KR10|Q6DJU4	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.G351D	ENST00000222249.9	37	c.1052		19	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761719	0.89932	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.88	4.88	0.63580	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.87556	0.2468	9	0.87932	D	0	-31.2634	15.5336	0.75983	0.0:0.0:1.0:0.0	.	351	Q92952	KCNN1_HUMAN	D	368;351	.	ENSP00000222249:G368D	G	+	2	0	KCNN1	17957255	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	9.729000	0.98795	2.251000	0.74343	0.491000	0.48974	GGC	KCNN1	-	pfam_2pore_dom_K_chnl_dom	ENSG00000105642		0.607	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	KCNN1	HGNC	protein_coding	OTTHUMT00000471896.2	-	0	28	0	G	NM_002248		18096255	1	tier1	-	no_errors	ENST00000222249	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A	A	18096255	G	A	18096255	3	1	150	1	0	0	0	0	1	0	0	0	8105	1203	42	3	1066	3	KCNN1	19	18096255	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	144047	18096255	41032728	225	38328											
SFRS14	10147	genome.wustl.edu	37	chr19	19130025	19130025	+	Silent	SNP	T	T	C	0	1	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	cccactaccctgtgatctgcTcgctgggggacagctggaac	7	8	12	14	1	1	1	0	1	1	0	2	3	1	3	2	3	4	3	2	3	2	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:19130025T>C	ENST00000601879.1	-	4	2040	c.1743A>G	c.(1741-1743)cgA>cgG	p.R581R	SUGP2_ENST00000600377.1_Silent_p.R595R|SUGP2_ENST00000337018.6_Silent_p.R581R|SUGP2_ENST00000456085.2_Silent_p.R350R|SUGP2_ENST00000452918.2_Silent_p.R581R			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	581					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						TGTGATCTGCTCGCTGGGGGA	0.522																																																	0													79	66	70					19																	19130025		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1743A>G	19.37:g.19130025T>C			C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.R581	ENST00000601879.1	37	c.1743	CCDS12392.1	19																																																																																			SUGP2	-	superfamily_Surp	ENSG00000064607		0.522	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SUGP2	HGNC	protein_coding	OTTHUMT00000464627.1		0	51	0	T	NM_001017392		19130025	-1			no_errors	ENST00000337018	ensembl	human	known	74_37	silent	5.36	53	3	SNP	1.000	C	C	19130025	T	C	19130025	2	2	150	1	0	0	0	0	0	0	0	1	14215	1538	54	4		4	SFRS14	19	19130025	Silent	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	1033770	19130025	39998958	226	38329											
GMIP	51291	genome.wustl.edu	37	chr19	19752628	19752628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacccccctacctgtgagggGtacaggaccctctggggagg	7	6	15	13	0	1	1	0	1	1	0	1	4	1	3	5	6	2	1	5	6	2	2	rs376828096		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:19752628G>A	ENST00000203556.4	-	4	366	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	GMIP_ENST00000587238.1_Missense_Mutation_p.P77S|GMIP_ENST00000445806.2_Missense_Mutation_p.P77S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	77					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCTGTGAGGGGTACAGGACCC	0.602																																																	0								G	SER/PRO	0,4406		0,0,2203	24	24	24		229	4.5	1	19		24	1,8595	1.2+/-3.3	0,1,4297	no	missense	GMIP	NM_016573.2	74	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	77/971	19752628	1,13001	2203	4298	6501	SO:0001583	missense	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.229C>T	19.37:g.19752628G>A	ENSP00000203556:p.Pro77Ser		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.P77S	ENST00000203556.4	37	c.229	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170927	0.38315	0.0	1.16E-4	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.30448	1.53;1.53	4.54	4.54	0.55810	.	0.000000	0.41194	D	0.000929	T	0.22936	0.0554	L	0.42245	1.32	0.35626	D	0.809867	B;B;B	0.30824	0.15;0.15;0.296	B;B;B	0.22753	0.027;0.041;0.041	T	0.20907	-1.0261	10	0.18276	T	0.48	-21.6101	12.64	0.56705	0.0:0.0:1.0:0.0	.	77;77;77	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	S	77	ENSP00000203556:P77S;ENSP00000397075:P77S	ENSP00000203556:P77S	P	-	1	0	GMIP	19613628	0.993000	0.37304	0.980000	0.43619	0.617000	0.37484	2.691000	0.47010	2.342000	0.79632	0.561000	0.74099	CCC	GMIP	-	NULL	ENSG00000089639		0.602	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1		0	40	0	G	NM_016573		19752628	-1			no_errors	ENST00000203556	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.963	A	A	19752628	G	A	19752628	3	1	150	1	0	0	0	0	1	0	0	0	6517	1261	44	3	2755	3	GMIP	19	19752628	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	622603	19752628	39376355	227	38330											
LIN37	126393	genome.wustl.edu	37	chr19	36245292	36245292	+	IGR	SNP	A	A	G	1	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	agtctcccctctgcctccccAggtggaaggaggcctctcat	6	9	10	16	0	3	0	1	0	3	0	6	2	4	2	6	4	1	0	6	4	1	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:36245292A>G	ENST00000592984.1	-	0	1634				AC002398.12_ENST00000587767.1_RNA|AC002398.9_ENST00000591613.2_Splice_Site|LIN37_ENST00000301159.9_Splice_Site|AC002398.11_ENST00000591091.1_RNA			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)	p.?(1)		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)			CTGCCTCCCCAGGTGGAAGGA	0.597																																																	1	Unknown(1)	lung(1)											55	57	57					19																	36245292		2016	4175	6191	SO:0001628	intergenic_variant	0			AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"Heat shock proteins / HSPB"	26511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 91"	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36245292A>G			O14551|Q6NVI3|Q96MG9	Splice_Site	SNP	-	e9-2	ENST00000592984.1	37	c.660-2	CCDS12475.1	19	.	.	.	.	.	.	.	.	.	.	A	23.7	4.452627	0.84209	.	.	ENSG00000188223	ENST00000301159	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4853	0.61361	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIN37	40937132	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	8.226000	0.89785	2.176000	0.68965	0.533000	0.62120	.	LIN37	-	-	ENSG00000267796		0.597	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN37	HGNC	protein_coding	OTTHUMT00000109498.3		0	35	0	A	NM_144617		36245292	1			no_errors	ENST00000301159	ensembl	human	known	74_37	splice_site	6.67	28	2	SNP	1.000	G	G	36245292	A	G	36245292	1	3	150	0	1	0	0	0	0	0	0	0	8837	202	7	4		4	LIN37	19	36245292	IGR	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	16492664	36245292	22883691	228	38331											
ZNF567	163081	genome.wustl.edu	37	chr19	37211466	37211466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagagaactcacacaggtGagaaaccctatgtttgtaat	15	10	8	8	0	2	2	2	1	0	2	2	4	2	2	1	1	2	2	1	1	4	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:37211466G>A	ENST00000536254.2	+	6	2062	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	ZNF567_ENST00000588311.1_Intron|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.E583K|ZNF567_ENST00000585696.1_Missense_Mutation_p.E583K			Q8N184	ZN567_HUMAN	zinc finger protein 567	614					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACACAGGTGAGAAACCCTA	0.383																																																	0													55	59	57					19																	37211466		2203	4300	6503	SO:0001583	missense	0			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1840G>A	19.37:g.37211466G>A	ENSP00000441838:p.Glu614Lys		B3KX49|Q6N044	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E614K	ENST00000536254.2	37	c.1840		19	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096891	0.76870	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498	T;T	0.24350	1.86;1.86	5.12	4.09	0.47781	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.151689	0.30584	N	0.009305	T	0.30293	0.0760	L	0.39020	1.185	0.80722	D	1	D	0.63046	0.992	P	0.53649	0.731	T	0.01378	-1.1370	10	0.72032	D	0.01	.	11.3897	0.49806	0.0894:0.0:0.9106:0.0	.	614	Q8N184	ZN567_HUMAN	K	614;558;583;613	ENSP00000441838:E614K;ENSP00000353957:E583K	ENSP00000353957:E583K	E	+	1	0	ZNF567	41903306	1.000000	0.71417	0.974000	0.42286	0.949000	0.60115	2.699000	0.47077	2.826000	0.97356	0.555000	0.69702	GAG	ZNF567	-	pfscan_Znf_C2H2	ENSG00000189042		0.383	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	ZNF567	HGNC	protein_coding	OTTHUMT00000453549.1	-	0	46	0	G	NM_152603		37211466	1	tier1	-	no_errors	ENST00000536254	ensembl	human	known	74_37	missense	95.56	2	43	SNP	0.996	A	A	37211466	G	A	37211466	3	1	150	1	0	0	0	0	1	0	0	0	18046	1291	45	3	1757	3	ZNF567	19	37211466	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	966174	37211466	21917517	229	38332											
EIF3K	27335	genome.wustl.edu	37	chr19	39123269	39123270	+	In_Frame_Ins	INS	-	-	CAG																															atgttgtgggtatcacttacINScagcacattgaccgctggct																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:39123269_39123270insCAG	ENST00000538434.1	+	5	424_425	c.189_190insCAG	c.(190-192)cag>CAGcag	p.64_64Q>QQ	EIF3K_ENST00000593149.1_In_Frame_Ins_p.64_64Q>QQ|EIF3K_ENST00000588934.1_Intron|EIF3K_ENST00000592558.1_Intron|EIF3K_ENST00000248342.4_In_Frame_Ins_p.151_151Q>QQ|EIF3K_ENST00000545173.2_In_Frame_Ins_p.151_151Q>QQ					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTATCACTTACCAGCACATTGA	0.619																																																	0																																										SO:0001652	inframe_insertion	0			AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"eukaryotic translation initiation factor 3, subunit 12"	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.190_192dupCAG	19.37:g.39123270_39123272dupCAG	ENSP00000440999:p.Gln64dup			In_Frame_Ins	INS	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	p.151in_frame_insQ	ENST00000538434.1	37	c.450_451		19																																																																																			EIF3K	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	ENSG00000178982		0.619	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	EIF3K	HGNC	protein_coding	OTTHUMT00000453409.1		0	56	0	-	NM_013234		39123270	1	tier1		no_errors	ENST00000248342	ensembl	human	known	74_37	in_frame_ins	27.27	24	9	INS	1.000:1.000	CAG	CAG	39123270	-	CAG	39123269	7	5	150	1	0	1	1	0	0	0	0	0	5037	518	18	0	472	0	EIF3K	19	39123269	In_Frame_Ins	INS	-	TCGA-R6-A8WC-01A-11D-A37C-09	1911803	39123269	20005714	230	38333											
PSMC4	5704	genome.wustl.edu	37	chr19	40486024	40486024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagctgctgaatcagatgGatggatttgatcagaatgtc	11	12	13	5	0	2	4	2	2	0	2	3	7	2	7	0	3	2	2	0	3	2	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:40486024G>T	ENST00000157812.2	+	8	1087	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	PSMC4_ENST00000455878.2_Missense_Mutation_p.D266Y	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	297					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)|blastocyst development (GO:0001824)|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)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|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)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAATCAGATGGATGGATTTGA	0.552																																					Colon(105;1478 1543 4034 6132 38638)												0													163	158	159					19																	40486024		2203	4300	6503	SO:0001583	missense	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.889G>T	19.37:g.40486024G>T	ENSP00000157812:p.Asp297Tyr		Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.D297Y	ENST00000157812.2	37	c.889	CCDS12547.1	19	.	.	.	.	.	.	.	.	.	.	g	18.31	3.596470	0.66332	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.96168	-3.93;-3.93	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98811	0.9599	H	0.98594	4.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99331	1.0909	10	0.87932	D	0	-21.9217	18.1147	0.89549	0.0:0.0:1.0:0.0	.	266;297	P43686-2;P43686	.;PRS6B_HUMAN	Y	297;266	ENSP00000157812:D297Y;ENSP00000413869:D266Y	ENSP00000157812:D297Y	D	+	1	0	PSMC4	45177864	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	7.736000	0.84948	2.882000	0.98803	0.655000	0.94253	GAT	PSMC4	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000013275		0.552	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1	-	0	60	0	G	NM_006503		40486024	1	tier1	-	no_errors	ENST00000157812	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	40486024	G	T	40486024	3	4	150	1	0	0	0	0	1	0	0	0	12731	1174	41	3	919	3	PSMC4	19	40486024	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	1362755	40486024	18642959	231	38334											
CD3EAP	10849	genome.wustl.edu	37	chr19	45911841	45911841	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacatggctttggggtcGccagaaatggatgtgcggaa	9	9	17	6	2	0	1	0	0	0	1	1	4	0	4	1	6	1	1	1	6	2	1	rs77680493		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:45911841G>T	ENST00000309424.3	+	3	1103	c.615G>T	c.(613-615)tcG>tcT	p.S205S	ERCC1_ENST00000300853.3_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|CD3EAP_ENST00000589804.1_Silent_p.S207S|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	205					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)		CTTTGGGGTCGCCAGAAATGG	0.562																																																	0													51	59	56					19																	45911841		2203	4300	6503	SO:0001819	synonymous_variant	0			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.615G>T	19.37:g.45911841G>T			Q32N11|Q7Z5U2|Q9UPF6	Silent	SNP	pfam_DNA-dir_RNA_pol1_su_RPA34	p.S207	ENST00000309424.3	37	c.621	CCDS12661.1	19																																																																																			CD3EAP	-	pfam_DNA-dir_RNA_pol1_su_RPA34	ENSG00000117877		0.562	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	HGNC	protein_coding	OTTHUMT00000459538.1	-	0	40	0	G	NM_012099		45911841	1	tier1	-	no_errors	ENST00000589804	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.000	T	T	45911841	G	T	45911841	2	4	150	1	0	0	0	0	0	0	0	1	3019	1074	38	2		2	CD3EAP	19	45911841	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	5425817	45911841	13217142	232	38335											
SLC8A2	6543	genome.wustl.edu	37	chr19	47969480	47969480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcacccagcgacgggtcgtCgggctcccacacgggcagca	7	4	14	16	5	1	0	1	0	0	0	4	1	2	0	2	3	2	3	2	3	0	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:47969480C>T	ENST00000236877.6	-	2	576	c.181G>A	c.(181-183)Gac>Aac	p.D61N	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	61					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GACGGGTCGTCGGGCTCCCAC	0.667																																																	0													32	27	29					19																	47969480		2203	4300	6503	SO:0001583	missense	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.181G>A	19.37:g.47969480C>T	ENSP00000236877:p.Asp61Asn		B4DYQ9	Missense_Mutation	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.D61N	ENST00000236877.6	37	c.181	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098251	0.56183	.	.	ENSG00000118160	ENST00000236877	T	0.32753	1.44	4.25	4.25	0.50352	.	0.615065	0.16385	N	0.216709	T	0.19248	0.0462	N	0.14661	0.345	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.04737	-1.0930	10	0.48119	T	0.1	.	11.6091	0.51049	0.0:0.8193:0.1807:0.0	.	61	Q9UPR5	NAC2_HUMAN	N	61	ENSP00000236877:D61N	ENSP00000236877:D61N	D	-	1	0	SLC8A2	52661292	0.000000	0.05858	0.997000	0.53966	0.940000	0.58332	-0.184000	0.09698	2.210000	0.71456	0.462000	0.41574	GAC	SLC8A2	-	tigrfam_Na_Ca_Ex	ENSG00000118160		0.667	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	-	0	22	0	C			47969480	-1	tier1	-	no_errors	ENST00000236877	ensembl	human	known	74_37	missense	80.00	3	12	SNP	0.843	T	T	47969480	C	T	47969480	3	4	150	1	0	0	0	0	1	0	0	0	14752	884	31	1	2620	1	SLC8A2	19	47969480	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	2057639	47969480	11159503	233	38336											
CA11	770	genome.wustl.edu	37	chr19	49147703	49147703	+	Missense_Mutation	SNP	A	A	T	1	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	ccttctctcctccagtgctgAgccttaatgggggcagaaag	8	10	11	12	0	1	2	0	1	1	1	4	2	3	2	4	2	2	2	4	2	2	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:49147703A>T	ENST00000084798.4	-	3	945	c.266T>A	c.(265-267)cTc>cAc	p.L89H	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	89						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	TCCAGTGCTGAGCCTTAATGG	0.577																																																	0													68	60	63					19																	49147703		2203	4300	6503	SO:0001583	missense	0			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"Carbonic anhydrases"	1370	protein-coding gene	gene with protein product	"CA-RP XI", "carbonic anhydrase-related protein XI", "carbonic anhydrase-related protein 2"	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.266T>A	19.37:g.49147703A>T	ENSP00000084798:p.Leu89His		O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.L89H	ENST00000084798.4	37	c.266	CCDS12729.1	19	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122542	0.77436	.	.	ENSG00000063180	ENST00000084798	T	0.71341	-0.56	4.6	4.6	0.57074	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000001	D	0.84701	0.5530	M	0.87180	2.865	0.45261	D	0.998262	D	0.89917	1.0	D	0.75484	0.986	D	0.87298	0.2303	10	0.87932	D	0	.	12.2336	0.54503	1.0:0.0:0.0:0.0	.	89	O75493	CAH11_HUMAN	H	89	ENSP00000084798:L89H	ENSP00000084798:L89H	L	-	2	0	CA11	53839515	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	7.377000	0.79668	1.855000	0.53841	0.260000	0.18958	CTC	CA11	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000063180		0.577	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA11	HGNC	protein_coding	OTTHUMT00000466172.1	-	0	59	0	A	NM_001217		49147703	-1	tier1	-	no_errors	ENST00000084798	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	49147703	A	T	49147703	3	4	150	1	0	0	0	0	1	0	0	0	2519	304	11	5	748	5	CA11	19	49147703	Missense_Mutation	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	1178223	49147703	9981280	234	38337											
NLRP12	91662	genome.wustl.edu	37	chr19	54307316	54307316	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactcaaccagatgtgggttGgtgccgagcacagaagccat	12	7	12	10	1	1	2	1	0	0	2	1	3	1	2	3	2	5	2	3	2	3	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:54307316G>C	ENST00000324134.6	-	6	2643	c.2475C>G	c.(2473-2475)acC>acG	p.T825T	NLRP12_ENST00000391773.1_Silent_p.T826T|NLRP12_ENST00000351894.4_Silent_p.T825T|NLRP12_ENST00000535162.1_Silent_p.T825T|NLRP12_ENST00000391775.3_Silent_p.T825T|NLRP12_ENST00000391772.1_Silent_p.T826T|NLRP12_ENST00000354278.3_Silent_p.T825T|NLRP12_ENST00000345770.5_Silent_p.T826T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	825					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)		GATGTGGGTTGGTGCCGAGCA	0.567																																																	0													83	73	76					19																	54307316		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2475C>G	19.37:g.54307316G>C			A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T825	ENST00000324134.6	37	c.2475	CCDS12864.1	19																																																																																			NLRP12	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000142405		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	-	0	27	0	G	NM_144687		54307316	-1	tier1	-	no_errors	ENST00000324134	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.962	C	C	54307316	G	C	54307316	2	2	150	1	0	0	0	0	0	0	0	1	10513	1335	47	5		5	NLRP12	19	54307316	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	5159613	54307316	4821667	235	38338											
NCR1	9437	genome.wustl.edu	37	chr19	55424098	55424098	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgcccagaatctccttcgGatgggcctggcctttctagt	6	12	10	13	1	2	1	0	0	2	1	4	2	2	2	4	3	1	0	4	3	2	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:55424098G>T	ENST00000291890.4	+	7	812	c.774G>T	c.(772-774)cgG>cgT	p.R258R	NCR1_ENST00000598576.1_Silent_p.R245R|NCR1_ENST00000447255.1_Silent_p.R257R|NCR1_ENST00000357397.5_Silent_p.R151R|NCR1_ENST00000594765.1_Silent_p.R257R|NCR1_ENST00000338835.5_Silent_p.R241R|NCR1_ENST00000350790.5_Silent_p.R163R	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	258					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ATCTCCTTCGGATGGGCCTGG	0.547																																																	0													131	90	104					19																	55424098		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.774G>T	19.37:g.55424098G>T			B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP	smart_Ig_sub	p.R258	ENST00000291890.4	37	c.774	CCDS12911.1	19																																																																																			NCR1	-	NULL	ENSG00000189430		0.547	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	HGNC	protein_coding	OTTHUMT00000465680.1	-	0	55	0	G			55424098	1	tier1	-	no_errors	ENST00000291890	ensembl	human	known	74_37	silent	88.10	5	37	SNP	0.000	T	T	55424098	G	T	55424098	2	4	150	1	0	0	0	0	0	0	0	1	10276	1161	41	3		3	NCR1	19	55424098	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	1116782	55424098	3704885	236	38339											
ZNF628	89887	genome.wustl.edu	37	chr19	55992629	55992629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcggagggggccggggaGaagccaggccctgcggcccc	6	2	19	14	3	0	1	0	0	0	1	0	3	0	2	5	7	3	0	5	7	1	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:55992629G>T	ENST00000598519.1	+	3	622	c.69G>T	c.(67-69)gaG>gaT	p.E23D	ZNF628_ENST00000391718.2_Missense_Mutation_p.E19D			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	23					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)		GGGCCGGGGAGAAGCCAGGCC	0.716																																																	0													11	12	12					19																	55992629		2186	4262	6448	SO:0001583	missense	0			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.69G>T	19.37:g.55992629G>T	ENSP00000469591:p.Glu23Asp		Q86X34	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E23D	ENST00000598519.1	37	c.69	CCDS33116.3	19	.	.	.	.	.	.	.	.	.	.	.	12.97	2.096832	0.37048	.	.	ENSG00000197483	ENST00000391718	T	0.07444	3.19	3.57	1.32	0.21799	.	0.430133	0.16450	U	0.213882	T	0.04137	0.0115	N	0.19112	0.55	0.23827	N	0.996737	B	0.32467	0.372	B	0.22880	0.042	T	0.37407	-0.9707	10	0.66056	D	0.02	-13.8775	3.8128	0.08804	0.2447:0.2021:0.5532:0.0	.	19	Q5EBL2	ZN628_HUMAN	D	19	ENSP00000375598:E19D	ENSP00000375598:E19D	E	+	3	2	ZNF628	60684441	0.801000	0.28930	0.976000	0.42696	0.630000	0.37929	0.973000	0.29422	0.302000	0.22762	0.472000	0.43445	GAG	ZNF628	-	NULL	ENSG00000197483		0.716	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	HGNC	protein_coding	OTTHUMT00000317934.2	-	0	55	0	G	XM_058964		55992629	1	tier1	-	no_errors	ENST00000598519	ensembl	human	known	74_37	missense	64.10	14	25	SNP	1.000	T	T	55992629	G	T	55992629	3	4	150	1	0	0	0	0	1	0	0	0	18100	933	33	3	59	3	ZNF628	19	55992629	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	568531	55992629	3136354	237	38340											
SCRT2	85508	genome.wustl.edu	37	chr20	656119	656119	+	Frame_Shift_Del	DEL	C	C	-																															cgggtcccactcaccgttgtCcccgggaggcccccgggcgc																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr20:656119delC	ENST00000246104.6	-	1	704	c.127delG	c.(127-129)gacfs	p.D43fs	RP5-850E9.3_ENST00000488788.2_Frame_Shift_Del_p.D43fs	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	43					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	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)			kidney(1)|liver(1)|ovary(1)	3						TCACCGTTGTCCCCGGGAGGC	0.741																																																	0													4	6	6					20																	656119		2072	4103	6175	SO:0001589	frameshift_variant	0				CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"Zinc fingers, C2H2-type"	15952	protein-coding gene	gene with protein product			"scratch (drosophila homolog) 2, zinc finger protein", "scratch homolog 2, zinc finger protein (Drosophila)"			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.127delG	20.37:g.656119delC	ENSP00000246104:p.Asp43fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D43fs	ENST00000246104.6	37	c.127	CCDS13006.1	20																																																																																			SCRT2	-	NULL	ENSG00000215397		0.741	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRT2	HGNC	protein_coding	OTTHUMT00000253383.2		0	17	0	C	NM_033129		656119	-1	tier1		no_errors	ENST00000246104	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	1.000	-	-	656119	C	-	656119	7	5	150	1	0	1	0	1	0	0	0	0	13987	855	30	0	804	0	SCRT2	20	656119	Frame_Shift_Del	DEL	C	TCGA-R6-A8WC-01A-11D-A37C-09		656119	62369401	238	38341											
PROKR2	128674	genome.wustl.edu	37	chr20	5294626	5294626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtgcgcaggtagttgacGgaggcacagagcacgtggcc	9	5	17	10	4	0	2	0	1	0	1	0	3	0	3	1	5	2	5	1	5	1	2	rs144778137	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr20:5294626G>A	ENST00000217270.3	-	1	389	c.390C>T	c.(388-390)tcC>tcT	p.S130S	PROKR2_ENST00000546004.1_Silent_p.S130S	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	130					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGTAGTTGACGGAGGCACAGA	0.612										HNSCC(71;0.22)																																							0								G		1,4405	2.1+/-5.4	0,1,2202	122	92	102		390	-10.2	0.4	20	dbSNP_134	102	6,8594	5.7+/-21.5	0,6,4294	no	coding-synonymous	PROKR2	NM_144773.2		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		130/385	5294626	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	0			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.390C>T	20.37:g.5294626G>A			A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.S130	ENST00000217270.3	37	c.390	CCDS13089.1	20																																																																																			PROKR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000101292		0.612	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1	-	0	58	0	G	NM_144773		5294626	-1	tier1	rs144778137	no_errors	ENST00000217270	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.410	A	A	5294626	G	A	5294626	2	1	150	1	0	0	0	0	0	0	0	1	12595	1103	39	1		1	PROKR2	20	5294626	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	4638507	5294626	57730894	239	38342											
KCNG1	3755	genome.wustl.edu	37	chr20	49626457	49626457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aggacagcgcgcacatctcgCgcagcagccgcagcttgccc	8	4	12	17	5	1	0	0	0	1	0	2	1	1	1	2	1	5	5	2	1	0	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr20:49626457C>T	ENST00000371571.4	-	2	704	c.419G>A	c.(418-420)cGc>cAc	p.R140H	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Missense_Mutation_p.R140H|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	140					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCACATCTCGCGCAGCAGCCG	0.647																																																	0													30	30	30					20																	49626457		2203	4299	6502	SO:0001583	missense	0			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.419G>A	20.37:g.49626457C>T	ENSP00000360626:p.Arg140His		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.R140H	ENST00000371571.4	37	c.419	CCDS13436.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.375928	0.95923	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.65	5.65	0.86999	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.89777	0.6813	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89850	0.4009	9	.	.	.	.	19.7261	0.96164	0.0:1.0:0.0:0.0	.	140;140	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	H	140	ENSP00000360626:R140H;ENSP00000379338:R140H;ENSP00000394075:R140H;ENSP00000394093:R140H	.	R	-	2	0	KCNG1	49059864	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	5.999000	0.70665	2.667000	0.90743	0.561000	0.74099	CGC	KCNG1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	ENSG00000026559		0.647	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	-	0	50	0	C	NM_002237		49626457	-1	tier1	-	no_errors	ENST00000371571	ensembl	human	known	74_37	missense	27.14	51	19	SNP	1.000	T	T	49626457	C	T	49626457	3	4	150	1	0	0	0	0	1	0	0	0	8054	768	27	1	1130	1	KCNG1	20	49626457	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	44331831	49626457	13399063	240	38343											
SPO11	23626	genome.wustl.edu	37	chr20	55908291	55908291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatcccattgcaccaccaGaaagatcaaaagtgattcac	15	8	7	11	0	2	3	2	1	0	2	3	3	3	3	3	1	1	2	3	1	4	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr20:55908291G>T	ENST00000371263.3	+	3	402	c.293G>T	c.(292-294)aGa>aTa	p.R98I	SPO11_ENST00000371260.4_Missense_Mutation_p.R60I|SPO11_ENST00000345868.4_Missense_Mutation_p.R60I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	98					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TGCACCACCAGAAAGATCAAA	0.313								Editing and processing nucleases																																									0													79	84	82					20																	55908291		2203	4299	6502	SO:0001583	missense	0			AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"cancer/testis antigen 35", "spermatogenesis associated 43"	605114	"SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like", "SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)", "SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.293G>T	20.37:g.55908291G>T	ENSP00000360310:p.Arg98Ile		Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A	p.R98I	ENST00000371263.3	37	c.293	CCDS13456.1	20	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626344	0.28978	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260;ENST00000418127	T;T;T;T	0.20332	2.08;2.19;2.18;2.08	5.39	3.41	0.39046	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.301114	0.39083	N	0.001473	T	0.15392	0.0371	L	0.38531	1.155	0.51482	D	0.999924	B;B	0.16166	0.016;0.005	B;B	0.14023	0.01;0.004	T	0.06041	-1.0849	10	0.29301	T	0.29	-23.9077	9.4479	0.38708	0.2345:0.0:0.7655:0.0	.	60;98	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	I	98;60;60;76	ENSP00000360310:R98I;ENSP00000316034:R60I;ENSP00000360307:R60I;ENSP00000413185:R76I	ENSP00000316034:R60I	R	+	2	0	SPO11	55341698	1.000000	0.71417	0.993000	0.49108	0.632000	0.37999	1.724000	0.38064	1.422000	0.47177	0.591000	0.81541	AGA	SPO11	-	prints_Meiotic_Spo11	ENSG00000054796		0.313	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPO11	HGNC	protein_coding	OTTHUMT00000079836.2	-	0	66	0	G	NM_012444		55908291	1	tier1	-	no_errors	ENST00000371263	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.996	T	T	55908291	G	T	55908291	3	4	150	1	0	0	0	0	1	0	0	0	15124	942	33	3	303	3	SPO11	20	55908291	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	6281834	55908291	7117229	241	38344											
ZBP1	81030	genome.wustl.edu	37	chr20	56179776	56179776	+	Silent	SNP	A	A	T	1	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	ctgggagtgatgggctgaccAatgtctcgaggaaagtgact	10	9	15	7	1	1	3	0	3	1	0	2	6	1	5	1	3	0	1	1	3	2	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr20:56179776A>T	ENST00000371173.3	-	8	1320	c.1143T>A	c.(1141-1143)atT>atA	p.I381I	ZBP1_ENST00000340462.4_Silent_p.I358I|ZBP1_ENST00000395822.3_Silent_p.I306I	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	381					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TGGGCTGACCAATGTCTCGAG	0.552																																																	0													174	134	148					20																	56179776		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1143T>A	20.37:g.56179776A>T			A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase	p.I381	ENST00000371173.3	37	c.1143	CCDS13461.1	20																																																																																			ZBP1	-	NULL	ENSG00000124256		0.552	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBP1	HGNC	protein_coding	OTTHUMT00000079849.1		0	54	0	A	NM_030776		56179776	-1			no_errors	ENST00000371173	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.000	T	T	56179776	A	T	56179776	2	4	150	1	0	0	0	0	0	0	0	1	17569	126	5	5		5	ZBP1	20	56179776	Silent	SNP	A	TCGA-R6-A8WC-01A-11D-A37C-09	271485	56179776	6845744	242	38345											
KCNJ15	3772	genome.wustl.edu	37	chr21	39671196	39671196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctggcaatggatgccattCacatcggcatgtccagcacc	9	8	10	14	1	1	0	1	0	0	0	3	1	2	1	4	3	2	3	4	3	1	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr21:39671196C>T	ENST00000328656.4	+	4	316	c.13C>T	c.(13-15)Cac>Tac	p.H5Y	KCNJ15_ENST00000398932.1_Missense_Mutation_p.H5Y|KCNJ15_ENST00000398930.1_Missense_Mutation_p.H5Y|KCNJ15_ENST00000398934.1_Missense_Mutation_p.H5Y|KCNJ15_ENST00000398938.2_Missense_Mutation_p.H5Y	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	5					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	GGATGCCATTCACATCGGCAT	0.512																																																	0													47	47	47					21																	39671196		2203	4300	6503	SO:0001583	missense	0			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.13C>T	21.37:g.39671196C>T	ENSP00000331698:p.His5Tyr		D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1	p.H5Y	ENST00000328656.4	37	c.13	CCDS13656.1	21	.	.	.	.	.	.	.	.	.	.	C	2.475	-0.321057	0.05386	.	.	ENSG00000157551	ENST00000549158;ENST00000549805;ENST00000547341;ENST00000549932;ENST00000547595;ENST00000548700;ENST00000551422;ENST00000328656;ENST00000398928;ENST00000398925;ENST00000443341;ENST00000417042;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	T;T;T;T;T;T;D;D;T;T;D;D;D;D;D;D;D	0.94232	0.57;0.57;0.57;0.57;0.57;0.57;-2.47;-3.01;-0.21;0.48;-2.47;-2.47;-2.85;-2.47;-2.47;-3.01;-3.38	4.94	3.1	0.35709	.	2.978100	0.01323	N	0.010983	D	0.92247	0.7541	L	0.44542	1.39	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.77958	-0.2392	10	0.52906	T	0.07	.	15.0029	0.71489	0.2992:0.7008:0.0:0.0	.	5	Q99712	IRK15_HUMAN	Y	5	ENSP00000448770:H5Y;ENSP00000447111:H5Y;ENSP00000448676:H5Y;ENSP00000450254:H5Y;ENSP00000448886:H5Y;ENSP00000449419:H5Y;ENSP00000331698:H5Y;ENSP00000381902:H5Y;ENSP00000381899:H5Y;ENSP00000413013:H5Y;ENSP00000381911:H5Y;ENSP00000381905:H5Y;ENSP00000414487:H5Y;ENSP00000381904:H5Y;ENSP00000381907:H5Y;ENSP00000381901:H5Y;ENSP00000400849:H5Y	ENSP00000331698:H5Y	H	+	1	0	KCNJ15	38593066	0.124000	0.22315	0.002000	0.10522	0.014000	0.08584	1.090000	0.30902	0.582000	0.29556	0.563000	0.77884	CAC	KCNJ15	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3	ENSG00000157551		0.512	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ15	HGNC	protein_coding	OTTHUMT00000207181.2	-	0	54	0	C	NM_002243		39671196	1	tier1	-	no_errors	ENST00000328656	ensembl	human	known	74_37	missense	35.00	24	14	SNP	0.002	T	T	39671196	C	T	39671196	3	4	150	1	0	0	0	0	1	0	0	0	8076	826	29	3	15	3	KCNJ15	21	39671196	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09		39671196	8458699	243	38346											
PRDM15	63977	genome.wustl.edu	37	chr21	43259831	43259831	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tttcttctgttctttggtggCaacattctcgctctcgggca	4	17	9	11	2	5	0	0	0	5	0	7	0	5	0	0	3	1	4	0	3	1	5			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr21:43259831C>A	ENST00000269844.3	-	14	1980	c.1870G>T	c.(1870-1872)Gcc>Tcc	p.A624S	PRDM15_ENST00000538201.1_Missense_Mutation_p.A258S|PRDM15_ENST00000447207.2_Missense_Mutation_p.A258S|PRDM15_ENST00000422911.1_Missense_Mutation_p.A295S|PRDM15_ENST00000398548.1_Missense_Mutation_p.A295S	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	624					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						TCTTTGGTGGCAACATTCTCG	0.582																																																	0													148	153	151					21																	43259831		2203	4300	6503	SO:0001583	missense	0			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.1870G>T	21.37:g.43259831C>A	ENSP00000269844:p.Ala624Ser		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A624S	ENST00000269844.3	37	c.1870	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996408	0.35226	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.07688	3.22;3.21;3.23;3.2;3.17	1.83	-3.03	0.05429	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	P;B;B	0.38504	0.634;0.18;0.361	B;B;B	0.35607	0.206;0.055;0.024	T	0.30208	-0.9986	9	0.39692	T	0.17	.	0.1048	0.00051	0.2396:0.2454:0.2388:0.2762	.	624;295;295	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	S	295;295;258;258;624;258	ENSP00000408592:A295S;ENSP00000381556:A295S;ENSP00000444044:A258S;ENSP00000390245:A258S;ENSP00000269844:A624S	ENSP00000269844:A624S	A	-	1	0	PRDM15	42132900	0.000000	0.05858	0.000000	0.03702	0.295000	0.27426	-0.379000	0.07437	-0.866000	0.04068	0.655000	0.94253	GCC	PRDM15	-	NULL	ENSG00000141956		0.582	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		-	0	60	0	C	NM_022115		43259831	-1	tier1	-	no_errors	ENST00000269844	ensembl	human	known	74_37	missense	6.90	53	4	SNP	0.000	A	A	43259831	C	A	43259831	3	1	150	1	0	0	0	0	1	0	0	0	12498	710	25	3	2725	3	PRDM15	21	43259831	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	3588635	43259831	4870064	244	38347											
U2AF1	7307	genome.wustl.edu	37	chr21	44513332	44513332	+	Silent	SNP	C	C	T	0	0	0	1	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	tctctagaccgagaacgacgCtcccgggatcgggatcttga	9	8	12	12	5	2	3	0	1	2	2	5	7	3	5	2	2	1	1	2	2	2	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr21:44513332C>T	ENST00000291552.4	-	8	695	c.603G>A	c.(601-603)gaG>gaA	p.E201E	U2AF1_ENST00000398137.1_Silent_p.E128E|U2AF1_ENST00000459639.1_Silent_p.E128E|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Silent_p.E201E	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	201	Arg/Gly/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GAGAACGACGCTCCCGGGATC	0.617			Mis		"CLL, MDS"																																			Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	0													45	50	48					21																	44513332		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.603G>A	21.37:g.44513332C>T			Q701P4|Q71RF1	Silent	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	p.E201	ENST00000291552.4	37	c.603	CCDS13694.1	21																																																																																			U2AF1	-	NULL	ENSG00000160201		0.617	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	HGNC	protein_coding	OTTHUMT00000195541.1	-	0	82	0	C	NM_006758		44513332	-1	tier1	-	no_errors	ENST00000291552	ensembl	human	known	74_37	silent	91.67	5	55	SNP	0.999	T	T	44513332	C	T	44513332	2	4	150	1	0	0	0	0	0	0	0	1	16870	796	28	3		3	U2AF1	21	44513332	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	1253501	44513332	3616563	245	38348											
MICAL3	57553	genome.wustl.edu	37	chr22	18301005	18301005	+	Frame_Shift_Del	DEL	C	C	-																															ggctcggcctccctgagcttCctccgcaaggtggcgggctc																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:18301005delC	ENST00000441493.2	-	26	4774	c.4422delG	c.(4420-4422)aggfs	p.R1474fs	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1474	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCCTGAGCTTCCTCCGCAAGG	0.751																																																	0													6	5	5					22																	18301005		1625	3694	5319	SO:0001589	frameshift_variant	0			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.4422delG	22.37:g.18301005delC	ENSP00000416015:p.Arg1474fs		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Del	DEL	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.K1475fs	ENST00000441493.2	37	c.4422	CCDS46659.1	22																																																																																			MICAL3	-	NULL	ENSG00000243156		0.751	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1		0	16	0	C			18301005	-1	tier1		no_errors	ENST00000441493	ensembl	human	known	74_37	frame_shift_del	53.33	7	8	DEL	0.983	-	-	18301005	C	-	18301005	7	5	150	1	0	1	0	1	0	0	0	0	9609	854	30	0	1614	0	MICAL3	22	18301005	Frame_Shift_Del	DEL	C	TCGA-R6-A8WC-01A-11D-A37C-09		18301005	33003561	246	38349											
MTMR3	8897	genome.wustl.edu	37	chr22	30414045	30414045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcaccagccctgatGatccccccctgagccggtga	7	5	10	19	1	0	4	0	4	0	0	1	4	1	4	8	2	2	1	8	2	0	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:30414045G>T	ENST00000401950.2	+	16	2146	c.1804G>T	c.(1804-1806)Gat>Tat	p.D602Y	MTMR3_ENST00000406629.1_Missense_Mutation_p.D602Y|MTMR3_ENST00000351488.3_Missense_Mutation_p.D602Y|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.D602Y|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.D466Y	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	602					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)			CAGCCCTGATGATCCCCCCCT	0.632																																																	0													78	61	66					22																	30414045		2203	4300	6503	SO:0001583	missense	0			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.1804G>T	22.37:g.30414045G>T	ENSP00000384651:p.Asp602Tyr		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.D602Y	ENST00000401950.2	37	c.1804	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467926	0.84533	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94232	-3.16;-3.15;-3.38;-3.2;-3.15	5.93	5.93	0.95920	.	0.444833	0.25106	N	0.033098	D	0.94785	0.8316	L	0.51422	1.61	0.80722	D	1	P;P;P	0.50617	0.937;0.897;0.937	P;P;P	0.55222	0.771;0.492;0.771	D	0.94739	0.7917	10	0.72032	D	0.01	.	19.3216	0.94243	0.0:0.0:1.0:0.0	.	602;602;602	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	Y	602;602;466;602;602	ENSP00000384651:D602Y;ENSP00000331649:D602Y;ENSP00000318070:D466Y;ENSP00000307271:D602Y;ENSP00000384077:D602Y	ENSP00000318070:D466Y	D	+	1	0	MTMR3	28744045	1.000000	0.71417	0.991000	0.47740	0.750000	0.42670	9.214000	0.95140	2.818000	0.97014	0.591000	0.81541	GAT	MTMR3	-	NULL	ENSG00000100330		0.632	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	-	0	39	0	G	NM_021090		30414045	1	tier1	-	no_errors	ENST00000401950	ensembl	human	known	74_37	missense	32.56	58	28	SNP	1.000	T	T	30414045	G	T	30414045	3	4	150	1	0	0	0	0	1	0	0	0	9983	1290	45	3	1858	3	MTMR3	22	30414045	Missense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	12113040	30414045	20890521	247	38350											
PATZ1	23598	genome.wustl.edu	37	chr22	31724828	31724828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	gctcccccattcaggatgggCtcctggtgcctggagacctg	5	9	13	14	0	1	1	1	0	0	1	3	3	3	2	5	4	1	2	5	4	0	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:31724828C>G	ENST00000266269.5	-	4	2219	c.1590G>C	c.(1588-1590)gaG>gaC	p.E530D	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.A509P|PATZ1_ENST00000351933.4_Intron	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	530					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						TCAGGATGGGCTCCTGGTGCC	0.552																																																	0													77	64	68					22																	31724828		2203	4300	6503	SO:0001583	missense	0			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.1590G>C	22.37:g.31724828C>G	ENSP00000266269:p.Glu530Asp		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E530D	ENST00000266269.5	37	c.1590	CCDS13894.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.36|15.36	2.811664|2.811664	0.50527|0.50527	.|.	.|.	ENSG00000100105|ENSG00000100105	ENST00000405309|ENST00000266269	T|T	0.10288|0.10099	2.89|2.91	4.91|4.91	3.88|3.88	0.44766|0.44766	.|.	.|0.499234	.|0.19316	.|N	.|0.117277	T|T	0.09024|0.09024	0.0223|0.0223	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|P	0.02656|0.38535	0.0|0.635	B|B	0.04013|0.30179	0.001|0.112	T|T	0.11060|0.11060	-1.0603|-1.0603	8|9	0.27082|0.87932	T|D	0.32|0	-18.2621|-18.2621	10.1853|10.1853	0.42993|0.42993	0.0:0.8278:0.0:0.1722|0.0:0.8278:0.0:0.1722	.|.	509|530	Q9HBE1-2|Q9HBE1	.|PATZ1_HUMAN	P|D	509|530	ENSP00000384173:A509P|ENSP00000266269:E530D	ENSP00000384173:A509P|ENSP00000266269:E530D	A|E	-|-	1|3	0|2	PATZ1|PATZ1	30054828|30054828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.797000|1.797000	0.38804|0.38804	1.178000|1.178000	0.42870|0.42870	0.462000|0.462000	0.41574|0.41574	GCC|GAG	PATZ1	-	NULL	ENSG00000100105		0.552	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	-	0	48	0	C	NM_032052		31724828	-1	tier1	-	no_errors	ENST00000266269	ensembl	human	known	74_37	missense	15.15	54	10	SNP	1.000	G	G	31724828	C	G	31724828	3	3	150	1	0	0	0	0	1	0	0	0	11515	797	28	5	481	5	PATZ1	22	31724828	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	1310783	31724828	19579738	248	38351											
MAFF	23764	genome.wustl.edu	37	chr22	38610597	38610597	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ggctacgccgccagctgccgCgtgaagcgcgtgtgccagaa	7	5	15	14	6	0	2	0	1	0	1	0	2	0	2	4	1	5	2	4	1	3	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:38610597C>T	ENST00000338483.2	+	3	569	c.207C>T	c.(205-207)cgC>cgT	p.R69R	MAFF_ENST00000538320.1_Silent_p.R69R|MAFF_ENST00000426621.2_Silent_p.R69R|MAFF_ENST00000538999.1_Silent_p.R40R|MAFF_ENST00000407965.1_Silent_p.R69R			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	69	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|skin(1)	3	Melanoma(58;0.045)					CCAGCTGCCGCGTGAAGCGCG	0.682																																																	0													10	12	11					22																	38610597		2188	4276	6464	SO:0001819	synonymous_variant	0			AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022			6780	protein-coding gene	gene with protein product		604877				10591208	Standard	NM_012323		Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.207C>T	22.37:g.38610597C>T			B4DV49|Q9Y525	Silent	SNP	pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.R69	ENST00000338483.2	37	c.207	CCDS13968.1	22																																																																																			MAFF	-	pfam_bZIP_Maf,smart_bZIP,pfscan_bZIP	ENSG00000185022		0.682	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAFF	HGNC	protein_coding	OTTHUMT00000321624.1	-	0	41	0	C	NM_001161572		38610597	1	tier1	-	no_errors	ENST00000338483	ensembl	human	known	74_37	silent	19.61	41	10	SNP	0.999	T	T	38610597	C	T	38610597	2	4	150	1	0	0	0	0	0	0	0	1	9195	755	27	1		1	MAFF	22	38610597	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	6885769	38610597	12693969	249	38352											
GRAP2	9402	genome.wustl.edu	37	chr22	40365485	40365485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgggcagtgaaatgaatgCggccctcatgcatcggagac	10	8	13	10	2	1	3	1	2	0	1	2	4	1	3	1	3	2	2	1	3	2	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:40365485C>T	ENST00000344138.4	+	7	1024	c.761C>T	c.(760-762)gCg>gTg	p.A254V	GRAP2_ENST00000544756.1_Missense_Mutation_p.A182V|GRAP2_ENST00000543252.1_Missense_Mutation_p.A214V|GRAP2_ENST00000407075.3_Missense_Mutation_p.A254V|GRAP2_ENST00000540310.1_Missense_Mutation_p.A188V|GRAP2_ENST00000399090.2_Missense_Mutation_p.A141V	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	254					cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAAATGAATGCGGCCCTCATG	0.572																																																	0													122	101	108					22																	40365485		2203	4300	6503	SO:0001583	missense	0			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"SH2 domain containing"	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.761C>T	22.37:g.40365485C>T	ENSP00000339186:p.Ala254Val		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.A254V	ENST00000344138.4	37	c.761	CCDS13999.1	22	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758344	0.31137	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.74209	-0.33;-0.82;1.52;0.94;0.66;-0.33	5.69	5.69	0.88448	.	0.603639	0.17228	N	0.182044	T	0.61912	0.2385	L	0.29908	0.895	0.09310	N	0.999996	P;B;P;P;B	0.50710	0.938;0.384;0.931;0.918;0.384	B;B;B;B;B	0.37267	0.146;0.057;0.245;0.204;0.057	T	0.57300	-0.7835	10	0.19590	T	0.45	-9.9602	17.985	0.89153	0.0:1.0:0.0:0.0	.	141;254;188;228;254	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	V	254;214;228;188;182;141;254	ENSP00000339186:A254V;ENSP00000446350:A214V;ENSP00000444734:A188V;ENSP00000442195:A182V;ENSP00000382040:A141V;ENSP00000385607:A254V	ENSP00000339186:A254V	A	+	2	0	GRAP2	38695431	0.150000	0.22732	0.023000	0.16930	0.037000	0.13140	4.664000	0.61540	2.676000	0.91093	0.655000	0.94253	GCG	GRAP2	-	NULL	ENSG00000100351		0.572	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAP2	HGNC	protein_coding	OTTHUMT00000321295.1		0	34	0	C	NM_004810		40365485	1			no_errors	ENST00000344138	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.070	T	T	40365485	C	T	40365485	3	4	150	1	0	0	0	0	1	0	0	0	6781	768	27	1	783	1	GRAP2	22	40365485	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	1754888	40365485	10939081	250	38353											
CRELD2	79174	genome.wustl.edu	37	chr22	50320932	50320932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggagaaagcccgacacagCtgccctcccgcgaagacctg	12	3	11	15	3	0	2	0	0	0	2	1	5	1	2	4	1	3	1	4	1	3	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:50320932C>T	ENST00000328268.4	+	10	1113	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	CRELD2_ENST00000403427.3_Silent_p.L319L|CRELD2_ENST00000404488.3_Silent_p.L396L|CRELD2_ENST00000407217.3_Silent_p.L315L	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	347						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		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;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CCCGACACAGCTGCCCTCCCG	0.547																																																	0													135	138	137					22																	50320932		2202	4299	6501	SO:0001819	synonymous_variant	0			BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.1039C>T	22.37:g.50320932C>T			A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Silent	SNP	pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.L396	ENST00000328268.4	37	c.1186	CCDS14082.1	22																																																																																			CRELD2	-	NULL	ENSG00000184164		0.547	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CRELD2	HGNC	protein_coding	OTTHUMT00000317409.1		0	34	0	C	NM_024324		50320932	1			no_errors	ENST00000404488	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.000	T	T	50320932	C	T	50320932	2	4	150	1	0	0	0	0	0	0	0	1	3874	796	28	3		3	CRELD2	22	50320932	Silent	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	9955447	50320932	983634	251	38354											
PLXNB2	23654	genome.wustl.edu	37	chr22	50716391	50716391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtggcaccgcgtgccCaggcgccagcacgctctgga	6	5	15	15	4	1	0	0	0	1	0	1	1	1	1	3	4	3	4	3	4	0	0			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:50716391C>T	ENST00000449103.1	-	32	5079	c.4939G>A	c.(4939-4941)Ggg>Agg	p.G1647R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.G1647R			O15031	PLXB2_HUMAN	plexin B2	1647					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)		ACCGCGTGCCCAGGCGCCAGC	0.617																																																	0													46	54	51					22																	50716391		2161	4271	6432	SO:0001583	missense	0				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.4939G>A	22.37:g.50716391C>T	ENSP00000409171:p.Gly1647Arg		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G1647R	ENST00000449103.1	37	c.4939	CCDS43035.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.725|8.725	0.915310|0.915310	0.17907|0.17907	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000411680|ENST00000399964	T;T;T|.	0.11930|.	2.73;2.73;2.73|.	4.08|4.08	0.344|0.344	0.16006|0.16006	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);|.	0.393509|.	0.24564|.	N|.	0.037454|.	T|.	0.31606|.	0.0802|.	L|L	0.52759|0.52759	1.655|1.655	0.09310|0.09310	N|N	1|1	B|.	0.29212|.	0.237|.	B|.	0.30105|.	0.111|.	T|.	0.26744|.	-1.0094|.	10|.	0.13470|0.13470	T|T	0.59|0.59	.|.	3.1893|3.1893	0.06612|0.06612	0.0:0.2908:0.2244:0.4848|0.0:0.2908:0.2244:0.4848	.|.	1647|.	O15031|.	PLXB2_HUMAN|.	R|X	1647;1647;199|277	ENSP00000409171:G1647R;ENSP00000352288:G1647R;ENSP00000400679:G199R|.	ENSP00000352288:G1647R|ENSP00000382845:W277X	G|W	-|-	1|2	0|0	PLXNB2|PLXNB2	49058518|49058518	0.633000|0.633000	0.27181|0.27181	0.002000|0.002000	0.10522|0.10522	0.013000|0.013000	0.08279|0.08279	1.965000|1.965000	0.40471|0.40471	0.296000|0.296000	0.22592|0.22592	0.491000|0.491000	0.48974|0.48974	GGG|TGG	PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.617	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	-	0	44	0	C	NM_012401		50716391	-1	tier1	-	no_errors	ENST00000359337	ensembl	human	known	74_37	missense	19.30	46	11	SNP	0.034	T	T	50716391	C	T	50716391	3	4	150	1	0	0	0	0	1	0	0	0	12163	594	21	3	601	3	PLXNB2	22	50716391	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	395459	50716391	588175	252	38355											
SHANK3	85358	genome.wustl.edu	37	chr22	51135698	51135698	+	Frame_Shift_Del	DEL	G	G	-																															ggccctggacctggaggggtGgggggggcgcccctccctcc																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:51135698delG	ENST00000262795.3	+	11	1332	c.1332delG	c.(1330-1332)gtgfs	p.V444fs	SHANK3_ENST00000414786.2_Intron|SHANK3_ENST00000445220.2_Intron	NM_033517.1	NP_277052.1	Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	435					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)		CTGGAGGGGTGGGGGGGGCGC	0.751																																																	0										30,25,2219		9,0,12,5,15,1096	2	3	3			-5	0	22		3	86,68,5176		18,1,49,10,47,2540	no	codingComplex	SHANK3	NM_001080420.1		27,1,61,15,62,3636	A1A1,A1A2,A1R,A2A2,A2R,RR		2.8893,2.4186,2.7486			51135698	116,93,7395	1375	3209	4584	SO:0001589	frameshift_variant	0			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	ENST00000262795.3:c.1332delG	22.37:g.51135698delG	ENSP00000442518:p.Val444fs		D7UT47|Q8TET3	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A447fs	ENST00000262795.3	37	c.1332		22																																																																																			SHANK3	-	NULL	ENSG00000251322		0.751	SHANK3-201	KNOWN	basic|appris_candidate_longest	protein_coding	SHANK3	HGNC	protein_coding			0	20	0	G	NM_001080420		51135698	1	tier1		no_errors	ENST00000262795	ensembl	human	known	74_37	frame_shift_del	25.00	12	4	DEL	0.002	-	-	51135698	G	-	51135698	7	5	150	1	0	1	0	1	0	0	0	0	14311	1335	47	0	1374	0	SHANK3	22	51135698	Frame_Shift_Del	DEL	G	TCGA-R6-A8WC-01A-11D-A37C-09	419307	51135698	168868	253	38356											
TBL1X	6907	genome.wustl.edu	37	chrX	9622336	9622336	+	Missense_Mutation	SNP	T	T	C	0	1	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	cagtgacgaggtgaactttcTggtgtatcggtatctccagg	8	12	13	8	2	2	2	0	2	2	0	4	3	2	2	1	4	1	2	1	4	3	3			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:9622336T>C	ENST00000217964.7	+	5	825	c.185T>C	c.(184-186)cTg>cCg	p.L62P	TBL1X_ENST00000380961.1_Missense_Mutation_p.L11P|TBL1X_ENST00000407597.2_Missense_Mutation_p.L62P|TBL1X_ENST00000424279.1_Missense_Mutation_p.L11P|TBL1X_ENST00000536365.1_Missense_Mutation_p.L11P	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	62	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				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)				GTGAACTTTCTGGTGTATCGG	0.468																																																	0													215	155	176					X																	9622336		2203	4300	6503	SO:0001583	missense	0			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.185T>C	X.37:g.9622336T>C	ENSP00000217964:p.Leu62Pro		A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L62P	ENST00000217964.7	37	c.185	CCDS14133.1	X	.	.	.	.	.	.	.	.	.	.	T	19.59	3.855942	0.71834	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000415293;ENST00000217964;ENST00000422314;ENST00000452824	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	4.89	4.89	0.63831	LisH dimerisation motif (2);LisH dimerisation motif, subgroup (1);	2.199050	0.03102	U	0.161215	D	0.94614	0.8264	M	0.86178	2.8	0.80722	D	1	D	0.61080	0.989	D	0.69142	0.962	D	0.83900	0.0289	9	.	.	.	.	11.5971	0.50979	0.0:0.0:0.0:1.0	.	62	O60907	TBL1X_HUMAN	P	62;11;11;11;11;62;11;62	ENSP00000385988:L62P;ENSP00000394097:L11P;ENSP00000445317:L11P;ENSP00000370348:L11P;ENSP00000407069:L11P;ENSP00000217964:L62P;ENSP00000415508:L11P;ENSP00000397878:L62P	.	L	+	2	0	TBL1X	9582336	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	5.224000	0.65288	1.638000	0.50547	0.425000	0.28330	CTG	TBL1X	-	pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pfscan_LisH_dimerisation	ENSG00000101849		0.468	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	TBL1X	HGNC	protein_coding	OTTHUMT00000055709.1		0	47	0	T	NM_005647		9622336	1			no_errors	ENST00000217964	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.997	C	C	9622336	T	C	9622336	3	2	150	1	0	0	0	0	1	0	0	0	15686	1580	55	4	191	4	TBL1X	23	9622336	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09		9622336	145648224	254	38357											
FANCB	2187	genome.wustl.edu	37	chrX	14882980	14882980	+	Missense_Mutation	SNP	T	T	C	0	1	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	cacttaatacttcttgacttTcaagagaatatacacaaaat	17	13	3	8	0	2	2	1	1	1	1	2	3	2	2	0	0	2	0	0	0	8	7			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:14882980T>C	ENST00000324138.3	-	2	806	c.653A>G	c.(652-654)gAa>gGa	p.E218G	FANCB_ENST00000398334.1_Missense_Mutation_p.E218G	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	218					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTCTTGACTTTCAAGAGAATA	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													70	72	72					X																	14882980		2203	4297	6500	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.653A>G	X.37:g.14882980T>C	ENSP00000326819:p.Glu218Gly		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	NULL	p.E218G	ENST00000324138.3	37	c.653	CCDS14161.1	X	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701961	0.68501	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.03386	3.95;3.95;3.95	5.56	5.56	0.83823	.	0.159541	0.56097	D	0.000030	T	0.10809	0.0264	M	0.70275	2.135	0.36790	D	0.884784	D	0.56746	0.977	P	0.49752	0.621	T	0.04165	-1.0972	10	0.72032	D	0.01	-7.3719	14.9217	0.70843	0.0:0.0:0.0:1.0	.	218	Q8NB91	FANCB_HUMAN	G	218	ENSP00000326819:E218G;ENSP00000381378:E218G;ENSP00000397849:E218G	ENSP00000326819:E218G	E	-	2	0	FANCB	14792901	1.000000	0.71417	0.235000	0.24058	0.777000	0.43975	4.686000	0.61700	1.974000	0.57490	0.486000	0.48141	GAA	FANCB	-	NULL	ENSG00000181544		0.338	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	-	0	26	0	T	NM_152633		14882980	-1	tier1	-	no_errors	ENST00000324138	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	C	C	14882980	T	C	14882980	3	2	150	1	0	0	0	0	1	0	0	0	5685	1783	62	4	1958	4	FANCB	23	14882980	Missense_Mutation	SNP	T	TCGA-R6-A8WC-01A-11D-A37C-09	5260644	14882980	140387580	255	38358											
MOSPD2	158747	genome.wustl.edu	37	chrX	14891844	14891844	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagccaagctcatctctGagacccggaggaggttcgaa	13	7	11	10	2	2	1	1	1	1	1	4	5	2	3	2	3	2	2	2	3	4	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:14891844G>T	ENST00000380492.3	+	2	131	c.43G>T	c.(43-45)Gag>Tag	p.E15*	MOSPD2_ENST00000497603.2_Nonsense_Mutation_p.E15*|MOSPD2_ENST00000482354.1_Nonsense_Mutation_p.E15*|FANCB_ENST00000398334.1_5'Flank|FANCB_ENST00000324138.3_5'Flank	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	15						integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					GCTCATCTCTGAGACCCGGAG	0.522																																																	0													192	179	183					X																	14891844		2203	4300	6503	SO:0001587	stop_gained	0			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.43G>T	X.37:g.14891844G>T	ENSP00000369860:p.Glu15*		Q8N3H2|Q8NA83	Nonsense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom	p.E15*	ENST00000380492.3	37	c.43	CCDS14162.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.391092	0.95988	.	.	ENSG00000130150	ENST00000380492	.	.	.	4.93	4.93	0.64822	.	0.056723	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.0563	0.64772	0.0:0.0:1.0:0.0	.	.	.	.	X	15	.	ENSP00000369860:E15X	E	+	1	0	MOSPD2	14801765	1.000000	0.71417	0.984000	0.44739	0.636000	0.38137	4.787000	0.62432	2.427000	0.82271	0.600000	0.82982	GAG	MOSPD2	-	superfamily_CRAL/TRIO_N_dom	ENSG00000130150		0.522	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1	-	0	33	0	G	NM_152581		14891844	1	tier1	-	no_errors	ENST00000380492	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	0.998	T	T	14891844	G	T	14891844	4	4	150	1	0	0	0	0	0	1	0	0	9754	1291	45	3	49	3	MOSPD2	23	14891844	Nonsense_Mutation	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	8864	14891844	140378716	256	38359											
RS1	6247	genome.wustl.edu	37	chrX	18662688	18662690	+	In_Frame_Del	DEL	CTT	CTT	-																															cctgaaatcactttgatctcCttcagatctatctgtaacca																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:18662688_18662690delCTT	ENST00000379984.3	-	5	422_424	c.382_384delAAG	c.(382-384)aagdel	p.K128del	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	128	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CTTTGATCTCCTTCAGATCTATC	0.552																																																	0																																										SO:0001651	inframe_deletion	0			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.382_384delAAG	X.37:g.18662688_18662690delCTT	ENSP00000369320:p.Lys128del		Q0QD39	In_Frame_Del	DEL	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.K128in_frame_del	ENST00000379984.3	37	c.384_382	CCDS14187.1	X																																																																																			RS1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000102104		0.552	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RS1	HGNC	protein_coding	OTTHUMT00000055949.1		0	23	0	CTT			18662690	-1	tier1		no_errors	ENST00000379984	ensembl	human	known	74_37	in_frame_del	50.00	19	19	DEL	1.000:1.000:1.000	-	-	18662690	CTT	-	18662688	7	5	150	1	0	1	0	1	0	0	0	0	13738	680	24	0	298	0	RS1	23	18662688	In_Frame_Del	DEL	CTT	TCGA-R6-A8WC-01A-11D-A37C-09	3770844	18662688	136607872	257	38360											
AWAT1	158833	genome.wustl.edu	37	chrX	69459688	69459688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccagagctgcttccgcCgtatctttggtttctactgt	5	16	9	11	2	2	1	0	0	2	1	4	1	4	1	3	1	3	5	3	1	2	6	rs373394760		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:69459688C>T	ENST00000374521.3	+	6	777	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	246					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTGCTTCCGCCGTATCTTTGG	0.498																																																	0													135	122	126					X																	69459688		2203	4300	6503	SO:0001583	missense	0			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.736C>T	X.37:g.69459688C>T	ENSP00000363645:p.Arg246Cys		Q5JT21|Q6IEE4	Missense_Mutation	SNP	pfam_DAGAT	p.R246C	ENST00000374521.3	37	c.736	CCDS35321.1	X	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195647	0.58126	.	.	ENSG00000204195	ENST00000374521	T	0.15718	2.4	5.39	-1.6	0.08426	.	0.893166	0.09691	N	0.768393	T	0.30293	0.0760	M	0.86268	2.805	0.09310	N	0.999999	D	0.55172	0.97	P	0.48114	0.567	T	0.38265	-0.9669	10	0.87932	D	0	0.0839	11.2528	0.49037	0.7108:0.1844:0.1048:0.0	.	246	Q58HT5	AWAT1_HUMAN	C	246	ENSP00000363645:R246C	ENSP00000363645:R246C	R	+	1	0	AWAT1	69376413	0.318000	0.24598	0.001000	0.08648	0.896000	0.52359	0.614000	0.24314	-0.091000	0.12440	0.544000	0.68410	CGT	AWAT1	-	pfam_DAGAT	ENSG00000204195		0.498	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	-	0	25	0	C	NM_001013579		69459688	1	tier1	-	no_errors	ENST00000374521	ensembl	human	known	74_37	missense	65.62	11	21	SNP	0.001	T	T	69459688	C	T	69459688	3	4	150	1	0	0	0	0	1	0	0	0	1235	652	23	1	758	1	AWAT1	23	69459688	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	50797000	69459688	85810872	258	38361											
COL4A5	1287	genome.wustl.edu	37	chrX	107783031	107783031	+	Frame_Shift_Del	DEL	A	A	-																															ctgcagtggcataaaaggggAaaaggtgaggtcttagattg																										TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:107783031delA	ENST00000361603.2	+	2	381	c.137delA	c.(136-138)gaafs	p.E46fs	COL4A5_ENST00000328300.6_Frame_Shift_Del_p.E46fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	46	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATAAAAGGGGAAAAGGTGAGG	0.348									Alport syndrome with Diffuse Leiomyomatosis																																								0													137	124	128					X																	107783031		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.137delA	X.37:g.107783031delA	ENSP00000354505:p.Glu46fs		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.K47fs	ENST00000361603.2	37	c.137	CCDS14543.1	X																																																																																			COL4A5	-	NULL	ENSG00000188153		0.348	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2		0	25	0	A			107783031	1	tier1		no_errors	ENST00000328300	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	1.000	-	-	107783031	A	-	107783031	7	5	150	1	0	1	0	1	0	0	0	0	3701	246	9	0	143	0	COL4A5	23	107783031	Frame_Shift_Del	DEL	A	TCGA-R6-A8WC-01A-11D-A37C-09	38323343	107783031	47487529	259	38362											
CT47B1	643311	genome.wustl.edu	37	chrX	120009285	120009285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatctgagtcctcctcggcGctcccgccctgggggactgc	4	9	12	16	3	1	1	0	1	1	0	5	2	4	2	4	3	1	1	4	3	1	1			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:120009285G>A	ENST00000371311.3	-	1	494	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	80										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCCTCGGCGCTCCCGCCCT	0.721																																																	0													15	19	18					X																	120009285		691	1582	2273	SO:0001819	synonymous_variant	0				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.240C>T	X.37:g.120009285G>A			A6NM97	Silent	SNP	NULL	p.S80	ENST00000371311.3	37	c.240	CCDS48161.1	X																																																																																			CT47B1	-	NULL	ENSG00000236446		0.721	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	-	0	44	0	G	NM_001145718		120009285	-1	tier1	-	no_errors	ENST00000371311	ensembl	human	known	74_37	silent	98.57	1	69	SNP	0.001	A	A	120009285	G	A	120009285	2	1	150	1	0	0	0	0	0	0	0	1	3998	1078	38	1		1	CT47B1	23	120009285	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	12226254	120009285	35261275	260	38363											
DKC1	1736	genome.wustl.edu	37	chrX	154005130	154005130	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaaagaggtagaattGgtttctgagtagtgaaggcc	15	9	13	4	0	1	4	0	2	1	2	1	4	1	4	1	3	1	4	1	3	7	4			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:154005130G>A	ENST00000369550.5	+	15	1743	c.1533G>A	c.(1531-1533)ttG>ttA	p.L511L	SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	511	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGTAGAATTGGTTTCTGAGT	0.393									Congenital Dyskeratosis																																								0													102	83	89					X																	154005130		2203	4299	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1533G>A	X.37:g.154005130G>A			F5BSB3|O43845|Q96G67|Q9Y505	Silent	SNP	pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451	p.L511	ENST00000369550.5	37	c.1533	CCDS14761.1	X																																																																																			DKC1	-	NULL	ENSG00000130826		0.393	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5	-	0	27	0	G	NM_001363		154005130	1	tier1	-	no_errors	ENST00000369550	ensembl	human	known	74_37	silent	43.86	32	25	SNP	0.000	A	A	154005130	G	A	154005130	2	1	150	1	0	0	0	0	0	0	0	1	4556	1339	47	3		3	DKC1	23	154005130	Silent	SNP	G	TCGA-R6-A8WC-01A-11D-A37C-09	33995845	154005130	1265430	261	38364											
IL9R	3581	genome.wustl.edu	37	chrX	155234213	155234213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagctggccttcaagaagCaggaagaggcctgggaggta	12	6	16	7	0	1	3	1	1	0	2	1	5	1	5	2	5	2	3	2	5	4	2			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:155234213C>A	ENST00000244174.5	+	5	741	c.562C>A	c.(562-564)Cag>Aag	p.Q188K	IL9R_ENST00000369423.2_Missense_Mutation_p.Q223K|IL9R_ENST00000540897.1_Missense_Mutation_p.Q213K|IL9R_ENST00000424344.3_Missense_Mutation_p.Q167K	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	188	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTTCAAGAAGCAGGAAGAGGC	0.567																																																	0													105	93	97					X																	155234213		2203	4296	6499	SO:0001583	missense	0			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.562C>A	X.37:g.155234213C>A	ENSP00000244174:p.Gln188Lys		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.Q188K	ENST00000244174.5	37	c.562	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	.	9.720	1.159444	0.21454	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	1.44	0.526	0.17078	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.710160	0.12669	N	0.448928	T	0.37679	0.1012	.	.	.	0.09310	N	1	P;P;P	0.41673	0.51;0.649;0.759	B;B;B	0.36666	0.185;0.23;0.186	T	0.30416	-0.9979	9	0.07644	T	0.81	-21.5245	5.208	0.15300	0.0:0.6343:0.3656:0.0	.	167;188;223	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	K	188;167;167;223;213	ENSP00000244174:Q188K;ENSP00000388918:Q167K;ENSP00000358431:Q223K;ENSP00000438112:Q213K	ENSP00000244174:Q188K	Q	+	1	0	IL9R	154887407	0.959000	0.32827	0.934000	0.37439	0.432000	0.31715	0.530000	0.23036	0.107000	0.17824	-0.888000	0.02935	CAG	IL9R	-	superfamily_Fibronectin_type3	ENSG00000124334		0.567	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	-	0	124	0	C	NM_002186		155234213	1	tier1	-	no_errors	ENST00000244174	ensembl	human	known	74_37	missense	19.39	133	32	SNP	0.921	A	A	155234213	C	A	155234213	3	1	150	1	0	0	0	0	1	0	0	0	7735	711	25	3	580	3	IL9R	23	155234213	Missense_Mutation	SNP	C	TCGA-R6-A8WC-01A-11D-A37C-09	1229083	155234213	36347	262	38365											
EIF4G3	8672	genome.wustl.edu	37	chr1	21205816	21205816	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccttcctctcttcttacCgttactagacatcgacacat	9	14	3	15	2	2	1	0	0	2	1	6	2	4	1	3	0	2	1	3	0	3	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:21205816C>T	ENST00000264211.8	-	14	2648	c.2454G>A	c.(2452-2454)acG>acA	p.T818T	EIF4G3_ENST00000536266.1_Splice_Site_p.T422T|EIF4G3_ENST00000602326.1_Splice_Site_p.T824T|EIF4G3_ENST00000374937.3_Splice_Site_p.T824T|EIF4G3_ENST00000400422.1_Splice_Site_p.T818T|EIF4G3_ENST00000374935.3_Splice_Site_p.T538T|EIF4G3_ENST00000537738.1_Splice_Site_p.T308T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	818	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)	p.T824T(1)|p.T818T(1)		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)		CTCTTCTTACCGTTACTAGAC	0.443																																																	2	Substitution - coding silent(2)	lung(2)											116	117	116					1																	21205816		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2454+1G>A	1.37:g.21205816C>T			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.T824	ENST00000264211.8	37	c.2472	CCDS214.1	1																																																																																			EIF4G3	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000075151		0.443	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3		0	34	0	C	NM_003760	Silent	21205816	-1			no_errors	ENST00000374937	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T	T	21205816	C	T	21205816	5	4	151	1	0	0	0	0	0	0	1	0	5054	666	23	1	2375	1	EIF4G3	1	21205816	Splice_Site	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09		21205816	228044805	1	38366											
ZNF684	127396	genome.wustl.edu	37	chr1	41012489	41012489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttatgaatgcagtgaatgcgGgaaagccttcaaaaagaagt	16	9	11	5	1	1	3	1	2	0	1	1	4	1	4	1	1	3	1	1	1	7	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:41012489G>T	ENST00000372699.3	+	5	745	c.494G>T	c.(493-495)gGg>gTg	p.G165V	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	165					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(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	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;5.42e-18)			AGTGAATGCGGGAAAGCCTTC	0.323																																																	0													38	41	40					1																	41012489		2201	4299	6500	SO:0001583	missense	0				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"Zinc fingers, C2H2-type", "-"	28418	protein-coding gene	gene with protein product	"hypothetical protein MGC27466"					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.494G>T	1.37:g.41012489G>T	ENSP00000361784:p.Gly165Val		Q2NKY4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G165V	ENST00000372699.3	37	c.494	CCDS454.1	1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982510	0.34942	.	.	ENSG00000117010	ENST00000372699	T	0.07567	3.18	4.05	3.09	0.35607	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35970	N	0.002876	T	0.36744	0.0978	H	0.95328	3.655	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.47522	-0.9111	10	0.66056	D	0.02	.	10.6552	0.45671	0.0:0.0:0.8068:0.1932	.	165	Q5T5D7	ZN684_HUMAN	V	165	ENSP00000361784:G165V	ENSP00000361784:G165V	G	+	2	0	ZNF684	40785076	0.937000	0.31787	0.424000	0.26647	0.096000	0.18686	1.455000	0.35190	0.994000	0.38892	0.591000	0.81541	GGG	ZNF684	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000117010		0.323	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF684	HGNC	protein_coding	OTTHUMT00000019260.3	-	0	28	0	G	NM_152373		41012489	1	tier1	-	no_errors	ENST00000372699	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.998	T	T	41012489	G	T	41012489	3	4	151	1	0	0	0	0	1	0	0	0	18139	1232	43	3	508	3	ZNF684	1	41012489	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	19806673	41012489	208238132	2	38367											
SGIP1	84251	genome.wustl.edu	37	chr1	67147757	67147757	+	Silent	SNP	A	A	G	1	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	gtgtccccaccagctacaccAgacaacccagctgactcccc	10	5	6	20	0	0	2	0	1	0	1	2	2	2	2	7	0	4	2	7	0	2	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:67147757A>G	ENST00000371037.4	+	15	1097	c.1020A>G	c.(1018-1020)ccA>ccG	p.P340P	SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.P344P|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	340	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						CAGCTACACCAGACAACCCAG	0.597																																																	0													99	121	114					1																	67147757		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1020A>G	1.37:g.67147757A>G			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.P344	ENST00000371037.4	37	c.1032	CCDS30744.1	1																																																																																			SGIP1	-	NULL	ENSG00000118473		0.597	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	-	0	55	0	A	NM_032291		67147757	1	tier1	-	no_errors	ENST00000237247	ensembl	human	known	74_37	silent	41.51	31	22	SNP	1.000	G	G	67147757	A	G	67147757	2	3	151	1	0	0	0	0	0	0	0	1	14251	175	7	4		4	SGIP1	1	67147757	Silent	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	26135268	67147757	182102864	3	38368											
LPHN2	23266	genome.wustl.edu	37	chr1	82447530	82447530	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcgctcttctgtgtcttcTtggcctcacctggtcctttg	1	19	8	13	1	5	0	1	0	4	0	7	0	6	0	3	2	0	1	3	2	0	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:82447530T>G	ENST00000370728.1	+	21	3785	c.3140T>G	c.(3139-3141)cTt>cGt	p.L1047R	LPHN2_ENST00000319517.6_Missense_Mutation_p.L1034R|LPHN2_ENST00000394879.1_Missense_Mutation_p.L1049R|LPHN2_ENST00000370725.1_Missense_Mutation_p.L1062R|LPHN2_ENST00000370717.2_Missense_Mutation_p.L1062R|LPHN2_ENST00000359929.3_Missense_Mutation_p.L1034R|LPHN2_ENST00000370713.1_Missense_Mutation_p.L1034R|LPHN2_ENST00000370715.1_Missense_Mutation_p.L1034R|LPHN2_ENST00000271029.4_Missense_Mutation_p.L1062R|LPHN2_ENST00000335786.5_Missense_Mutation_p.L1047R|LPHN2_ENST00000370730.1_Missense_Mutation_p.L1047R|LPHN2_ENST00000370721.1_Missense_Mutation_p.L972R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.L1049R|LPHN2_ENST00000370727.1_Missense_Mutation_p.L1062R			O95490	LPHN2_HUMAN	latrophilin 2	1047					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTGTGTCTTCTTGGCCTCACC	0.403																																																	0													243	245	245					1																	82447530		2203	4300	6503	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3140T>G	1.37:g.82447530T>G	ENSP00000359763:p.Leu1047Arg		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.L1062R	ENST00000370728.1	37	c.3185		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.19|17.19	3.327103|3.327103	0.60743|0.60743	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.63580|0.61742	-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|0.08	5.67|5.67	5.67|5.67	0.87782|0.87782	GPCR, family 2-like (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.82907|0.82907	0.5139|0.5139	H|H	0.98048|0.98048	4.135|4.135	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.999|.	D;D;D;D|.	0.78314|.	0.991;0.983;0.97;0.984|.	D|D	0.89622|0.89622	0.3849|0.3849	10|8	0.87932|0.87932	D|D	0|0	.|.	15.9227|15.9227	0.79589|0.79589	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1047;1034;1034;1034|.	O95490;O95490-3;O95490-4;O95490-2|.	LPHN2_HUMAN;.;.;.|.	R|V	972;1047;1047;1062;1062;1049;1034;1034;1034;1034;1062;1049;1062;1047|939	ENSP00000359756:L972R;ENSP00000359763:L1047R;ENSP00000359765:L1047R;ENSP00000359762:L1062R;ENSP00000359760:L1062R;ENSP00000359758:L1049R;ENSP00000353006:L1034R;ENSP00000359750:L1034R;ENSP00000359748:L1034R;ENSP00000322270:L1034R;ENSP00000359752:L1062R;ENSP00000378344:L1049R;ENSP00000271029:L1062R;ENSP00000337306:L1047R|ENSP00000397740:L939V	ENSP00000271029:L1062R|ENSP00000397740:L939V	L|L	+|+	2|1	0|2	LPHN2|LPHN2	82220118|82220118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.040000|8.040000	0.89188|0.89188	2.157000|2.157000	0.67596|0.67596	0.528000|0.528000	0.53228|0.53228	CTT|TTG	LPHN2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000117114		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	-	0	82	0	T	NM_012302		82447530	1	tier1	-	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	49.37	40	39	SNP	1.000	G	G	82447530	T	G	82447530	3	3	151	1	0	0	0	0	1	0	0	0	8951	1609	56	4	3163	4	LPHN2	1	82447530	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	15299773	82447530	166803091	4	38369											
COL11A1	1301	genome.wustl.edu	37	chr1	103496728	103496728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtgctgaagagtcacagtCtggactataatgctcacagt	11	10	12	8	0	3	2	2	1	1	1	3	3	3	3	0	2	2	2	0	2	3	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:103496728C>T	ENST00000370096.3	-	5	1036	c.724G>A	c.(724-726)Gac>Aac	p.D242N	COL11A1_ENST00000353414.4_Missense_Mutation_p.D242N|COL11A1_ENST00000358392.2_Missense_Mutation_p.D242N|COL11A1_ENST00000512756.1_Missense_Mutation_p.D242N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	242	Laminin G-like.|Nonhelical 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)		GAGTCACAGTCTGGACTATAA	0.443																																																	0													109	97	101					1																	103496728		2203	4300	6503	SO:0001583	missense	0			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.724G>A	1.37:g.103496728C>T	ENSP00000359114:p.Asp242Asn		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.D242N	ENST00000370096.3	37	c.724	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404725	0.83230	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36;4.36	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);	0.052672	0.85682	D	0.000000	T	0.05456	0.0144	M	0.64997	1.995	0.80722	D	1	P;P;D;P	0.55385	0.734;0.93;0.971;0.884	B;P;P;P	0.55749	0.321;0.71;0.783;0.516	T	0.29882	-0.9997	10	0.62326	D	0.03	.	19.5892	0.95501	0.0:1.0:0.0:0.0	.	242;242;242;242	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	N	242;242;242;242;242;169	ENSP00000359114:D242N;ENSP00000351163:D242N;ENSP00000302551:D242N;ENSP00000426533:D242N;ENSP00000408640:D242N;ENSP00000410177:D169N	ENSP00000302551:D242N	D	-	1	0	COL11A1	103269316	1.000000	0.71417	0.976000	0.42696	0.998000	0.95712	7.372000	0.79612	2.631000	0.89168	0.551000	0.68910	GAC	COL11A1	-	superfamily_ConA-like_lec_gl_sf	ENSG00000060718		0.443	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	17	0	C	NM_080630		103496728	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	T	T	103496728	C	T	103496728	3	4	151	1	0	0	0	0	1	0	0	0	3674	913	32	3	5105	3	COL11A1	1	103496728	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	21049198	103496728	145753893	5	38370											
SORT1	6272	genome.wustl.edu	37	chr1	109856993	109856993	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagcacagagtatcGatgcaccaggaacctgtgaa	12	7	11	11	1	0	2	0	1	0	1	1	4	0	3	2	1	5	5	2	1	3	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:109856993G>T	ENST00000256637.6	-	19	2429	c.2371C>A	c.(2371-2373)Cga>Aga	p.R791R	SORT1_ENST00000538502.1_Silent_p.R654R	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	791	Golgi to endosome transport and interactions with GGA1 and GGA2.				endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACAGAGTATCGATGCACCAGG	0.488																																																	0													70	67	68					1																	109856993		2203	4300	6503	SO:0001819	synonymous_variant	0			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.2371C>A	1.37:g.109856993G>T			B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	pfam_BNR_rpt,smart_VPS10	p.R791	ENST00000256637.6	37	c.2371	CCDS798.1	1																																																																																			SORT1	-	NULL	ENSG00000134243		0.488	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1		0	23	0	G	NM_002959		109856993	-1			no_errors	ENST00000256637	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.999	T	T	109856993	G	T	109856993	2	4	151	1	0	0	0	0	0	0	0	1	14980	1066	37	2		2	SORT1	1	109856993	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	6360265	109856993	139393628	6	38371											
C1orf56	54964	genome.wustl.edu	37	chr1	151020718	151020718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcgactcccaatacagCggggagttccagcacgaggt	10	6	13	12	3	0	0	0	0	0	0	2	3	2	1	2	3	4	2	2	3	2	2	rs35890495		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:151020718C>T	ENST00000368926.5	+	1	503	c.395C>T	c.(394-396)gCg>gTg	p.A132V		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	132						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	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)			CCCAATACAGCGGGGAGTTCC	0.562																																					GBM(146;891 3320 6873)												0													49	48	49					1																	151020718		2203	4300	6503	SO:0001583	missense	0			BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"methylated in normal thymocytes"					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.395C>T	1.37:g.151020718C>T	ENSP00000357922:p.Ala132Val		B2RDU8|Q9NWZ4	Missense_Mutation	SNP	superfamily_Thrombospondin_1_rpt	p.A132V	ENST00000368926.5	37	c.395	CCDS980.1	1	.	.	.	.	.	.	.	.	.	.	C	1.189	-0.635961	0.03557	.	.	ENSG00000143443	ENST00000368926;ENST00000433087	.	.	.	3.18	0.539	0.17156	.	1.297700	0.05956	N	0.639807	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.19706	0.038	B	0.10450	0.005	T	0.31081	-0.9956	9	0.09843	T	0.71	.	2.6751	0.05079	0.246:0.5341:0.0:0.2199	.	132	Q9BUN1	CA056_HUMAN	V	132	.	ENSP00000357922:A132V	A	+	2	0	C1orf56	149287342	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.199000	0.09491	0.137000	0.18759	0.650000	0.86243	GCG	C1orf56	-	NULL	ENSG00000143443		0.562	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf56	HGNC	protein_coding	OTTHUMT00000085101.1	-	0	42	0	C	NM_017860		151020718	1	tier1	-	no_errors	ENST00000368926	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	T	T	151020718	C	T	151020718	3	4	151	1	0	0	0	0	1	0	0	0	2055	768	27	1	397	1	C1orf56	1	151020718	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	41163725	151020718	98229903	7	38372											
ARHGEF2	9181	genome.wustl.edu	37	chr1	155921991	155921991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gggtgtcaagagcagttccaCtcctggccccaccagcaggt	8	7	12	14	0	1	1	1	0	0	1	3	1	3	1	5	3	2	3	5	3	1	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:155921991C>T	ENST00000361247.4	-	16	2119	c.2020G>A	c.(2020-2022)Gtg>Atg	p.V674M	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.V673M|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.V646M|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.V646M|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.V719M|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.V675M	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	674					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)					AGCAGTTCCACTCCTGGCCCC	0.597																																					Melanoma(178;35 2768 6610 28839)												0													48	47	47					1																	155921991		2203	4300	6503	SO:0001583	missense	0			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.2020G>A	1.37:g.155921991C>T	ENSP00000354837:p.Val674Met		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.V675M	ENST00000361247.4	37	c.2023	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	C	8.179	0.793428	0.16327	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.65178	-0.14;-0.02;-0.02;-0.14;-0.14	5.39	2.4	0.29515	.	0.376167	0.19321	N	0.117122	T	0.19406	0.0466	N	0.17082	0.46	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.15870	0.003;0.001;0.014	T	0.12167	-1.0558	10	0.32370	T	0.25	-8.0958	4.5256	0.11980	0.0:0.5547:0.1747:0.2706	.	718;674;673	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	M	646;674;675;646;673	ENSP00000315325:V646M;ENSP00000354837:V674M;ENSP00000357298:V675M;ENSP00000357299:V646M;ENSP00000314787:V673M	ENSP00000314787:V673M	V	-	1	0	ARHGEF2	154188615	0.000000	0.05858	0.072000	0.20136	0.835000	0.47333	0.254000	0.18314	0.848000	0.35191	0.655000	0.94253	GTG	ARHGEF2	-	NULL	ENSG00000116584		0.597	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2		0	28	0	C	NM_004723		155921991	-1			no_errors	ENST00000368315	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.002	T	T	155921991	C	T	155921991	3	4	151	1	0	0	0	0	1	0	0	0	903	565	20	3	968	3	ARHGEF2	1	155921991	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	4901273	155921991	93328630	8	38373											
DHX9	1660	genome.wustl.edu	37	chr1	182828173	182828173	+	Splice_Site	SNP	A	A	G	1	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	atgttggctttttgttttacAggctactccagagcaaataa	11	15	8	7	0	0	1	0	0	0	1	1	1	1	1	1	2	3	5	1	2	4	7			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:182828173A>G	ENST00000367549.3	+	11	1172		c.e11-1			NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9						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						TTTGTTTTACAGGCTACTCCA	0.338																																					Colon(69;210 1162 3697 13559 39565)												0													114	99	103					1																	182828173		1830	4098	5928	SO:0001630	splice_region_variant	0			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.1063-1A>G	1.37:g.182828173A>G			B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Splice_Site	SNP	-	e10-2	ENST00000367549.3	37	c.1063-2	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.021716	0.75275	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7592	0.78063	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX9	181094796	1.000000	0.71417	0.959000	0.39883	0.955000	0.61496	6.027000	0.70881	2.248000	0.74166	0.460000	0.39030	.	DHX9	-	-	ENSG00000135829		0.338	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	-	0	47	0	A	NM_030588	Intron	182828173	1	tier1	-	no_errors	ENST00000367549	ensembl	human	known	74_37	splice_site	7.14	52	4	SNP	1.000	G	G	182828173	A	G	182828173	5	3	151	1	0	0	0	0	0	0	1	0	4530	202	7	4	1099	4	DHX9	1	182828173	Splice_Site	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	26906182	182828173	66422448	9	38374											
IGFN1	91156	genome.wustl.edu	37	chr1	201177500	201177500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtctctgagggcaggaaGcaaagtgggtgagggggatg	10	6	21	4	0	1	2	0	2	1	0	2	4	1	4	0	6	1	2	0	6	2	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:201177500G>A	ENST00000335211.4	+	12	3609	c.3479G>A	c.(3478-3480)aGc>aAc	p.S1160N	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	Ig-like 5.					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						AGGGCAGGAAGCAAAGTGGGT	0.602																																																	0													10	9	9					1																	201177500		692	1590	2282	SO:0001583	missense	0			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.3479G>A	1.37:g.201177500G>A	ENSP00000334714:p.Ser1160Asn		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1160N	ENST00000335211.4	37	c.3479	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	8.066	0.769144	0.15983	.	.	ENSG00000163395	ENST00000335211	D	0.88354	-2.37	3.73	1.67	0.24075	.	.	.	.	.	T	0.72104	0.3419	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.59343	-0.7472	6	.	.	.	.	3.1548	0.06500	0.2465:0.0:0.5416:0.2119	.	.	.	.	N	1160	ENSP00000334714:S1160N	.	S	+	2	0	IGFN1	199444123	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-0.551000	0.06027	0.263000	0.21812	0.561000	0.74099	AGC	IGFN1	-	NULL	ENSG00000163395		0.602	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding			0	33	0	G	NM_178275		201177500	1			no_errors	ENST00000335211	ensembl	human	known	74_37	missense	6.67	55	4	SNP	0.000	A	A	201177500	G	A	201177500	3	1	151	1	0	0	0	0	1	0	0	0	7617	971	34	3	3521	3	IGFN1	1	201177500	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	18349327	201177500	48073121	10	38375											
PIGR	5284	genome.wustl.edu	37	chr1	207112692	207112692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctccctgccggcaccagtActtccgggtgtgccggttga	5	9	13	14	3	0	1	0	1	0	0	2	1	2	1	5	3	4	4	5	3	1	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:207112692A>G	ENST00000356495.4	-	3	343	c.160T>C	c.(160-162)Tac>Cac	p.Y54H		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	54	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGGCACCAGTACTTCCGGGTG	0.562																																																	0													77	74	75					1																	207112692		2203	4300	6503	SO:0001583	missense	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.160T>C	1.37:g.207112692A>G	ENSP00000348888:p.Tyr54His		Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.Y54H	ENST00000356495.4	37	c.160	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.476443	0.84640	.	.	ENSG00000162896	ENST00000356495	T	0.67345	-0.26	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.196246	0.36519	N	0.002549	T	0.80879	0.4708	M	0.76433	2.335	0.36968	D	0.893674	D	0.89917	1.0	D	0.85130	0.997	D	0.85861	0.1410	10	0.87932	D	0	-27.1807	13.5454	0.61699	1.0:0.0:0.0:0.0	.	54	P01833	PIGR_HUMAN	H	54	ENSP00000348888:Y54H	ENSP00000348888:Y54H	Y	-	1	0	PIGR	205179315	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.514000	0.67043	2.196000	0.70406	0.533000	0.62120	TAC	PIGR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000162896		0.562	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	-	0	61	0	A	NM_002644		207112692	-1	tier1	-	no_errors	ENST00000356495	ensembl	human	known	74_37	missense	19.72	57	14	SNP	1.000	G	G	207112692	A	G	207112692	3	3	151	1	0	0	0	0	1	0	0	0	11936	391	14	4	2170	4	PIGR	1	207112692	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	5935192	207112692	42137929	11	38376											
OBSCN	84033	genome.wustl.edu	37	chr1	228481160	228481160	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atggcccccgtggagtggtgGaaggggcatgagaccctcag	8	6	17	10	1	1	1	1	1	0	1	1	4	1	3	3	6	0	1	3	6	1	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:228481160G>C	ENST00000422127.1	+	41	11018	c.10974G>C	c.(10972-10974)tgG>tgC	p.W3658C	OBSCN_ENST00000284548.11_Missense_Mutation_p.W3658C|OBSCN_ENST00000366709.4_Missense_Mutation_p.W777C|OBSCN_ENST00000359599.6_Missense_Mutation_p.W2505C|OBSCN_ENST00000570156.2_Missense_Mutation_p.W4087C|OBSCN_ENST00000366707.4_Missense_Mutation_p.W777C|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3658	Ig-like 37.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGAGTGGTGGAAGGGGCATG	0.632																																																	0													88	91	90					1																	228481160		2126	4233	6359	SO:0001583	missense	0			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.10974G>C	1.37:g.228481160G>C	ENSP00000409493:p.Trp3658Cys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.W3658C	ENST00000422127.1	37	c.10974	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	12.81	2.049694	0.36181	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	4.22	4.22	0.49857	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.471452	0.23545	N	0.047033	T	0.08268	0.0206	L	0.27053	0.805	0.44155	D	0.996953	P;P	0.52170	0.951;0.827	P;P	0.58331	0.837;0.726	T	0.26643	-1.0097	10	0.41790	T	0.15	.	8.9627	0.35856	0.1738:0.0:0.8262:0.0	.	3658;3658	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3658;3658;777;777;2505	ENSP00000284548:W3658C;ENSP00000409493:W3658C;ENSP00000355668:W777C;ENSP00000355670:W777C;ENSP00000352613:W2505C	ENSP00000284548:W3658C	W	+	3	0	OBSCN	226547783	0.004000	0.15560	0.994000	0.49952	0.015000	0.08874	0.109000	0.15417	2.200000	0.70718	0.467000	0.42956	TGG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000154358		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	43	0	G	NM_052843		228481160	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	16.67	50	10	SNP	0.923	C	C	228481160	G	C	228481160	3	2	151	1	0	0	0	0	1	0	0	0	10851	1183	41	5	11132	5	OBSCN	1	228481160	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	21368468	228481160	20769461	12	38377											
TAF5L	27097	genome.wustl.edu	37	chr1	229730114	229730114	+	Missense_Mutation	SNP	A	A	G	1	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	aggccatgaactgcacgctcAggacgttgctcatctgcccg	8	8	11	14	3	3	1	2	1	1	0	3	2	3	2	2	2	4	4	2	2	1	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:229730114A>G	ENST00000366676.1	-	4	1699	c.1700T>C	c.(1699-1701)cTg>cCg	p.L567P	TAF5L_ENST00000258281.2_Missense_Mutation_p.L567P			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	567					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)				CTGCACGCTCAGGACGTTGCT	0.527																																																	0													77	70	72					1																	229730114		2203	4300	6503	SO:0001583	missense	0			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.1700T>C	1.37:g.229730114A>G	ENSP00000355636:p.Leu567Pro		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L567P	ENST00000366676.1	37	c.1700	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274509	0.80580	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	D;D	0.82255	-1.59;-1.59	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86261	0.1655	10	0.39692	T	0.17	-16.246	16.4473	0.83942	1.0:0.0:0.0:0.0	.	567	O75529	TAF5L_HUMAN	P	567	ENSP00000355636:L567P;ENSP00000258281:L567P	ENSP00000258281:L567P	L	-	2	0	TAF5L	227796737	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.276000	0.95745	2.281000	0.76405	0.533000	0.62120	CTG	TAF5L	-	superfamily_WD40_repeat_dom	ENSG00000135801		0.527	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	-	0	48	0	A	NM_014409		229730114	-1	tier1	-	no_errors	ENST00000258281	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	G	G	229730114	A	G	229730114	3	3	151	1	0	0	0	0	1	0	0	0	15576	188	7	4	73	4	TAF5L	1	229730114	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	1248954	229730114	19520507	13	38378											
RGS7	6000	genome.wustl.edu	37	chr1	240978038	240978038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcagcgacttttgacatttTtaaccgatgtctatctaact	10	16	6	9	2	3	1	1	1	2	0	3	3	3	1	1	0	3	0	1	0	3	7			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:240978038T>C	ENST00000407727.1	-	11	822	c.823A>G	c.(823-825)Aaa>Gaa	p.K275E	RGS7_ENST00000348120.2_Missense_Mutation_p.K222E|RGS7_ENST00000366563.1_Missense_Mutation_p.K275E|RGS7_ENST00000366562.4_Missense_Mutation_p.K275E|RGS7_ENST00000331110.7_Missense_Mutation_p.K249E|RGS7_ENST00000401882.1_Missense_Mutation_p.K222E|RGS7_ENST00000446183.2_Missense_Mutation_p.K191E|RGS7_ENST00000366565.1_Missense_Mutation_p.K275E|RGS7_ENST00000366564.1_Missense_Mutation_p.K275E			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	275	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)			TTTGACATTTTTAACCGATGT	0.299																																																	0													110	113	111					1																	240978038		2203	4298	6501	SO:0001583	missense	0			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.823A>G	1.37:g.240978038T>C	ENSP00000384428:p.Lys275Glu		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.K275E	ENST00000407727.1	37	c.823		1	.	.	.	.	.	.	.	.	.	.	T	31	5.103416	0.94245	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	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	6.06	6.06	0.98353	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.997;0.995;0.997;0.996;0.994;1.0;0.995	D;D;D;D;P;D;D	0.78314	0.989;0.91;0.937;0.976;0.889;0.991;0.932	T	0.69873	-0.5027	10	0.87932	D	0	-7.7669	15.7905	0.78357	0.0:0.0:0.0:1.0	.	191;249;222;275;275;275;275	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	E	249;275;275;275;106;222;191;275;275;222	ENSP00000331485:K249E;ENSP00000355523:K275E;ENSP00000355522:K275E;ENSP00000355521:K275E;ENSP00000404399:K106E;ENSP00000341242:K222E;ENSP00000390138:K191E;ENSP00000355520:K275E;ENSP00000384428:K275E;ENSP00000385508:K222E	ENSP00000331485:K249E	K	-	1	0	RGS7	239044661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	AAA	RGS7	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom	ENSG00000182901		0.299	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		-	0	61	0	T	NM_002924		240978038	-1	tier1	-	no_errors	ENST00000407727	ensembl	human	known	74_37	missense	21.13	56	15	SNP	1.000	C	C	240978038	T	C	240978038	3	2	151	1	0	0	0	0	1	0	0	0	13355	1850	64	4	668	4	RGS7	1	240978038	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	11247924	240978038	8272583	14	38379											
OR2AK2	391191	genome.wustl.edu	37	chr1	248128938	248128938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggcagtcagcttcctctCacagagtaagaccattagat	12	10	9	10	0	2	3	2	0	1	3	4	4	3	3	2	1	1	3	2	1	2	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:248128938C>T	ENST00000366480.3	+	1	404	c.305C>T	c.(304-306)tCa>tTa	p.S102L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	102						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(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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)			AGCTTCCTCTCACAGAGTAAG	0.468																																					Melanoma(45;390 1181 23848 28461 41504)												0													229	204	212					1																	248128938		2203	4300	6503	SO:0001583	missense	0			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"GPCR / Class A : Olfactory receptors"	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.305C>T	1.37:g.248128938C>T	ENSP00000355436:p.Ser102Leu		B2RND1|Q6IF05	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S102L	ENST00000366480.3	37	c.305	CCDS31102.1	1	.	.	.	.	.	.	.	.	.	.	.	10.36	1.329381	0.24167	.	.	ENSG00000187080	ENST00000366480	T	0.01335	5.0	3.15	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01387	0.0045	L	0.52364	1.645	0.09310	N	1	P	0.45594	0.862	B	0.40864	0.342	T	0.33420	-0.9869	9	0.08837	T	0.75	.	4.0486	0.09785	0.2149:0.5913:0.0:0.1937	.	102	Q8NG84	O2AK2_HUMAN	L	102	ENSP00000355436:S102L	ENSP00000355436:S102L	S	+	2	0	OR2AK2	246195561	0.000000	0.05858	0.002000	0.10522	0.187000	0.23431	-1.777000	0.01780	0.617000	0.30160	-0.538000	0.04264	TCA	OR2AK2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000187080		0.468	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AK2	HGNC	protein_coding	OTTHUMT00000096858.2	-	0	52	0	C	NM_001004491		248128938	1	tier1	-	no_errors	ENST00000366480	ensembl	human	known	74_37	missense	49.25	34	33	SNP	0.000	T	T	248128938	C	T	248128938	3	4	151	1	0	0	0	0	1	0	0	0	11025	838	29	3	307	3	OR2AK2	1	248128938	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	7150900	248128938	1121683	15	38380											
OR2T27	403239	genome.wustl.edu	37	chr1	248813950	248813950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggtcgaccagcattttgGgcacaatggtggaaatatac	11	10	11	9	1	0	0	0	0	0	0	1	2	0	1	2	4	2	2	2	4	4	4	rs368069888	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:248813950G>A	ENST00000344889.3	-	1	235	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	79						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)			CAGCATTTTGGGCACAATGGT	0.532																																																	0													34	24	27					1																	248813950		2197	4272	6469	SO:0001583	missense	0				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.236C>T	1.37:g.248813950G>A	ENSP00000342008:p.Pro79Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P79L	ENST00000344889.3	37	c.236	CCDS31124.1	1	.	.	.	.	.	.	.	.	.	.	.	14.86	2.662774	0.47572	.	.	ENSG00000187701	ENST00000344889	T	0.25749	1.78	3.23	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39341	N	0.001393	T	0.61173	0.2326	H	0.96833	3.89	0.49130	D	0.999753	D	0.55800	0.973	P	0.62885	0.908	T	0.76547	-0.2919	10	0.87932	D	0	.	13.7534	0.62921	0.0:0.0:1.0:0.0	.	79	Q8NH04	O2T27_HUMAN	L	79	ENSP00000342008:P79L	ENSP00000342008:P79L	P	-	2	0	OR2T27	246880573	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	7.851000	0.86920	1.817000	0.53016	0.194000	0.17425	CCC	OR2T27	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000187701		0.532	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1		0	66	0	G	NM_001001824		248813950	-1			no_errors	ENST00000344889	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.999	A	A	248813950	G	A	248813950	3	1	151	1	0	0	0	0	1	0	0	0	11060	1232	43	3	720	3	OR2T27	1	248813950	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	685012	248813950	436671	16	38381											
APOB	338	genome.wustl.edu	37	chr2	21230107	21230108	+	Frame_Shift_Ins	INS	-	-	T																															aatctaatgcattgtttctgINStttttttcaaaatgcctgtc																										TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:21230107_21230108insT	ENST00000233242.1	-	26	9759_9760	c.9632_9633insA	c.(9631-9633)aacfs	p.N3211fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3211	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTGTTTCTGTTTTTTTCAAA	0.356																																																	0			GRCh37	CI942146	APOB	I																																				SO:0001589	frameshift_variant	0			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.9633dupA	2.37:g.21230114_21230114dupT	ENSP00000233242:p.Asn3211fs		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Ins	INS	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.N3211fs	ENST00000233242.1	37	c.9633_9632	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.356	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0	63	0	-			21230108	-1	tier1		no_errors	ENST00000233242	ensembl	human	known	74_37	frame_shift_ins	25.00	48	16	INS	0.997:0.991	T	T	21230108	-	T	21230107	7	5	151	1	0	1	1	0	0	0	0	0	785	1368	48	0	4074	0	APOB	2	21230107	Frame_Shift_Ins	INS	-	TCGA-R6-A8WG-01A-11D-A37C-09		21230107	221969266	17	38382											
ATAD2B	54454	genome.wustl.edu	37	chr2	24092543	24092543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttactaacctatttcttgCtcttgccatgctctttgatt	6	21	4	10	0	3	1	0	1	3	0	3	1	3	1	2	0	5	2	2	0	3	9			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:24092543C>T	ENST00000238789.5	-	9	1409	c.1066G>A	c.(1066-1068)Gca>Aca	p.A356T		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	356						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATTTCTTGCTCTTGCCATG	0.318																																																	0													125	103	109					2																	24092543		1826	4082	5908	SO:0001583	missense	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1066G>A	2.37:g.24092543C>T	ENSP00000238789:p.Ala356Thr		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.A356T	ENST00000238789.5	37	c.1066	CCDS46227.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.124478	0.94429	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	D;T	0.92699	-3.09;-0.23	5.3	5.3	0.74995	.	.	.	.	.	D	0.95749	0.8617	M	0.70275	2.135	0.54753	D	0.999987	D;P	0.89917	1.0;0.931	D;P	0.91635	0.999;0.566	D	0.94957	0.8105	9	0.44086	T	0.13	.	19.3339	0.94307	0.0:1.0:0.0:0.0	.	370;356	C9JG15;Q9ULI0	.;ATD2B_HUMAN	T	356;208;370	ENSP00000238789:A356T;ENSP00000403177:A370T	ENSP00000238789:A356T	A	-	1	0	ATAD2B	23946047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.495000	0.66912	2.655000	0.90218	0.555000	0.69702	GCA	ATAD2B	-	NULL	ENSG00000119778		0.318	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1	-	0	93	0	C	NM_017552		24092543	-1	tier1	-	no_errors	ENST00000238789	ensembl	human	known	74_37	missense	47.54	32	29	SNP	1.000	T	T	24092543	C	T	24092543	3	4	151	1	0	0	0	0	1	0	0	0	1073	797	28	3	3390	3	ATAD2B	2	24092543	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	2862436	24092543	219106830	18	38383											
POMC	5443	genome.wustl.edu	37	chr2	25384468	25384468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgcgccgctgctgcCgctgctgctgctgttgcggc	0	10	14	17	4	0	0	0	0	0	0	0	0	0	0	3	1	8	7	3	1	0	1	rs373689962	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:25384468C>T	ENST00000405623.1	-	3	741	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000395826.2_Missense_Mutation_p.G96S|POMC_ENST00000380794.1_Missense_Mutation_p.G96S|POMC_ENST00000264708.3_Missense_Mutation_p.G96S			P01189	COLI_HUMAN	proopiomelanocortin	96					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	ccgctgctgccgctgctgctg	0.706													T|||	3	0.000599042	0.0015	0.0014	5008	,	,		14465	0		0	False		,,,				2504	0				Colon(110;1515 1566 8452 10082 43216)												0													6	5	5					2																	25384468		1809	3656	5465	SO:0001583	missense	0				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.286G>A	2.37:g.25384468C>T	ENSP00000384092:p.Gly96Ser		P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.G96S	ENST00000405623.1	37	c.286	CCDS1717.1	2	.	.	.	.	.	.	.	.	.	.	T	0.746	-0.774406	0.02951	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	2.4	-1.26	0.09376	.	2.820870	0.03976	N	0.292578	T	0.55955	0.1953	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41378	-0.9512	10	0.32370	T	0.25	.	8.1617	0.31202	0.0:0.6184:0.0:0.3816	.	96	P01189	COLI_HUMAN	S	96	ENSP00000370171:G96S;ENSP00000384092:G96S;ENSP00000264708:G96S;ENSP00000379170:G96S;ENSP00000387993:G96S	ENSP00000264708:G96S	G	-	1	0	POMC	25237972	0.002000	0.14202	0.006000	0.13384	0.010000	0.07245	-2.170000	0.01268	-0.787000	0.04510	-1.611000	0.00801	GGC	POMC	-	NULL	ENSG00000115138		0.706	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	HGNC	protein_coding	OTTHUMT00000211573.3	-	0	20	0	C	NM_001035256		25384468	-1	tier1	-	no_errors	ENST00000264708	ensembl	human	known	74_37	missense	50.00	9	9	SNP	0.195	T	T	25384468	C	T	25384468	3	4	151	1	0	0	0	0	1	0	0	0	12281	652	23	1	521	1	POMC	2	25384468	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	1291925	25384468	217814905	19	38384											
TMEM214	54867	genome.wustl.edu	37	chr2	27261402	27261402	+	Splice_Site	SNP	T	T	C	0	1	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	ggagcagattcccaagaaggTgaggagctgggaggacgtgg	11	5	19	6	1	0	3	0	1	0	2	1	7	1	7	1	6	2	2	1	6	2	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:27261402T>C	ENST00000238788.9	+	11	1355		c.e11+2		TMEM214_ENST00000404032.3_Splice_Site	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214						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						CCCAAGAAGGTGAGGAGCTGG	0.612																																																	0													65	77	73					2																	27261402		2011	4161	6172	SO:0001630	splice_region_variant	0				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.1293+2T>C	2.37:g.27261402T>C			A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Splice_Site	SNP	-	e11+2	ENST00000238788.9	37	c.1293+2	CCDS42664.1	2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180404	0.78677	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000425720;ENST00000444135	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4782	0.61320	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM214	27114906	0.969000	0.33509	0.990000	0.47175	0.977000	0.68977	2.012000	0.40932	2.181000	0.69327	0.459000	0.35465	.	TMEM214	-	-	ENSG00000119777		0.612	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM214	HGNC	protein_coding	OTTHUMT00000324748.1		0	45	0	T	NM_017727	Intron	27261402	1			no_errors	ENST00000238788	ensembl	human	known	74_37	splice_site	11.43	31	4	SNP	1.000	C	C	27261402	T	C	27261402	5	2	151	1	0	0	0	0	0	0	1	0	16184	1710	59	4	1337	4	TMEM214	2	27261402	Splice_Site	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	1876934	27261402	215937971	20	38385											
CRIM1	51232	genome.wustl.edu	37	chr2	36774143	36774143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagatatgggtcacctccaGgtagattacagagataacag	14	9	10	8	0	1	3	1	0	0	3	2	4	2	3	2	2	2	1	2	2	5	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:36774143G>T	ENST00000280527.2	+	16	3130	c.2763G>T	c.(2761-2763)caG>caT	p.Q921H	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	921					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)				GTCACCTCCAGGTAGATTACA	0.358																																																	0													88	88	88					2																	36774143		2203	4300	6503	SO:0001583	missense	0			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.2763G>T	2.37:g.36774143G>T	ENSP00000280527:p.Gln921His		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.Q921H	ENST00000280527.2	37	c.2763	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061827	0.76187	.	.	ENSG00000150938	ENST00000280527	T	0.04862	3.54	5.81	5.81	0.92471	.	0.065426	0.64402	D	0.000008	T	0.09158	0.0226	L	0.29908	0.895	0.47994	D	0.999566	D	0.56521	0.976	P	0.50440	0.641	T	0.07578	-1.0765	10	0.45353	T	0.12	-9.7475	12.3835	0.55320	0.0761:0.0:0.9239:0.0	.	921	Q9NZV1	CRIM1_HUMAN	H	921	ENSP00000280527:Q921H	ENSP00000280527:Q921H	Q	+	3	2	CRIM1	36627647	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.272000	0.51616	2.736000	0.93811	0.655000	0.94253	CAG	CRIM1	-	NULL	ENSG00000150938		0.358	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	-	0	42	0	G	NM_016441		36774143	1	tier1	-	no_errors	ENST00000280527	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	36774143	G	T	36774143	3	4	151	1	0	0	0	0	1	0	0	0	3880	991	35	3	2825	3	CRIM1	2	36774143	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	9512741	36774143	206425230	21	38386											
AUP1	165545	genome.wustl.edu	37	chr2	74755953	74755953	+	5'Flank	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggagtggggggaagcCtcgtggaagcacagaatctc	11	5	17	8	1	1	2	0	0	1	2	3	5	1	5	1	5	2	2	1	5	3	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:74755953C>G	ENST00000404568.3	-	0	0				HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.R150T|DQX1_ENST00000393951.2_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						GGGGGGAAGCCTCGTGGAAGC	0.602																																																	0													43	46	45					2																	74755953		1915	4117	6032	SO:0001631	upstream_gene_variant	0			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		2.37:g.74755953C>G	Exception_encountered		Q6B017|Q8NAM8	Missense_Mutation	SNP	pfam_CUE,smart_CUE,pfscan_CUE	p.R150T	ENST00000404568.3	37	c.449	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	C	9.581	1.123560	0.20959	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	D	0.93659	-3.26	4.82	4.82	0.62117	.	0.181713	0.47455	D	0.000227	T	0.81531	0.4842	N	0.03608	-0.345	0.40643	D	0.981965	P;B;B	0.36125	0.538;0.137;0.274	B;B;B	0.29524	0.103;0.043;0.069	T	0.82410	-0.0471	10	0.13470	T	0.59	-3.2233	15.7638	0.78110	0.0:1.0:0.0:0.0	.	207;216;150	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	T	150;214;152	ENSP00000366748:R150T	ENSP00000258081:R214T	R	-	2	0	AUP1	74609461	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.006000	0.49529	2.669000	0.90835	0.561000	0.74099	AGG	AUP1	-	NULL	ENSG00000115307		0.602	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUP1	HGNC	protein_coding	OTTHUMT00000252230.3	-	0	52	0	C	NM_133637		74755953	-1	tier1	-	no_errors	ENST00000377526	ensembl	human	known	74_37	missense	31.65	54	25	SNP	1.000	G	G	74755953	C	G	74755953	1	3	151	0	1	0	0	0	0	0	0	0	1221	681	24	5		5	AUP1	2	74755953	5'Flank	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	37981810	74755953	168443420	22	38387											
SUCLG1	8802	genome.wustl.edu	37	chr2	84668530	84668530	+	Frame_Shift_Del	DEL	A	A	-																															tcattaatggcagcagcagcAaaaggcggaggaacataaat																										TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:84668530delA	ENST00000393868.2	-	4	582	c.372delT	c.(370-372)tttfs	p.F124fs		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	124					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)	CAGCAGCAGCAAAAGGCGGAG	0.438																																					Ovarian(48;203 1101 37206 40305 50790)												0													68	68	68					2																	84668530		2203	4300	6503	SO:0001589	frameshift_variant	0			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.372delT	2.37:g.84668530delA	ENSP00000377446:p.Phe124fs		Q9BWB0|Q9UNP6	Frame_Shift_Del	DEL	pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha	p.F124fs	ENST00000393868.2	37	c.372	CCDS1967.2	2																																																																																			SUCLG1	-	pfam_CoA-bd,smart_CoA-bd,pirsf_CoA_lig_alpha,tigrfam_CoA_lig_alpha	ENSG00000163541		0.438	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLG1	HGNC	protein_coding	OTTHUMT00000252298.2		0	29	0	A	NM_003849		84668530	-1	tier1		no_errors	ENST00000393868	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	1.000	-	-	84668530	A	-	84668530	7	5	151	1	0	1	0	1	0	0	0	0	15411	127	5	0	692	0	SUCLG1	2	84668530	Frame_Shift_Del	DEL	A	TCGA-R6-A8WG-01A-11D-A37C-09	9912577	84668530	158530843	23	38388											
ST6GAL2	84620	genome.wustl.edu	37	chr2	107459975	107459975	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtgggcctggctccccGggggaagggaatcccaatgt	6	7	15	13	2	0	0	0	0	0	0	3	2	3	2	5	5	0	1	5	5	3	0	rs142520495		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:107459975G>T	ENST00000409382.3	-	2	1069	c.459C>A	c.(457-459)ccC>ccA	p.P153P	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Silent_p.P153P|ST6GAL2_ENST00000361686.4_Silent_p.P153P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	153					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.P153P(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTGGCTCCCCGGGGGAAGGGA	0.622																																																	1	Substitution - coding silent(1)	lung(1)											82	99	93					2																	107459975		2203	4300	6503	SO:0001819	synonymous_variant	0			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.459C>A	2.37:g.107459975G>T			D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.P153	ENST00000409382.3	37	c.459	CCDS2073.1	2																																																																																			ST6GAL2	-	NULL	ENSG00000144057		0.622	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	-	0	33	0	G	NM_032528		107459975	-1	tier1	-	no_errors	ENST00000361686	ensembl	human	known	74_37	silent	48.00	13	12	SNP	0.000	T	T	107459975	G	T	107459975	2	4	151	1	0	0	0	0	0	0	0	1	15269	1103	39	2		2	ST6GAL2	2	107459975	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	22791445	107459975	135739398	24	38389											
CLASP1	23332	genome.wustl.edu	37	chr2	122206680	122206680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgctgaagtgactgtGgaaaccccagtaacatctag	11	11	9	10	0	2	2	0	2	2	0	3	3	2	3	2	1	3	2	2	1	4	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:122206680G>A	ENST00000263710.4	-	17	1929	c.1540C>T	c.(1540-1542)Cac>Tac	p.H514Y	CLASP1_ENST00000541377.1_Missense_Mutation_p.H514Y|CLASP1_ENST00000455322.2_Missense_Mutation_p.H514Y|CLASP1_ENST00000541859.1_Missense_Mutation_p.H283Y|CLASP1_ENST00000545861.1_Missense_Mutation_p.H282Y|CLASP1_ENST00000409078.3_Missense_Mutation_p.H514Y|CLASP1_ENST00000397587.3_Missense_Mutation_p.H514Y	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	514					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)					AAGTGACTGTGGAAACCCCAG	0.473																																																	0													83	81	82					2																	122206680		1935	4143	6078	SO:0001583	missense	0			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.1540C>T	2.37:g.122206680G>A	ENSP00000263710:p.His514Tyr		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.H514Y	ENST00000263710.4	37	c.1540		2	.	.	.	.	.	.	.	.	.	.	G	31	5.076393	0.94000	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.65549	-0.16;-0.07;-0.07;-0.07;-0.16;-0.07;-0.16	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (2);CLASP N-terminal domain (1);	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.997;0.996;0.997;0.998	D;D;D;D	0.83275	0.992;0.986;0.994;0.996	T	0.78617	-0.2134	10	0.72032	D	0.01	1.2623	20.5948	0.99439	0.0:0.0:1.0:0.0	.	514;514;514;514	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	Y	514;514;514;514;283;514;282	ENSP00000263710:H514Y;ENSP00000389372:H514Y;ENSP00000380717:H514Y;ENSP00000441625:H514Y;ENSP00000441770:H283Y;ENSP00000386442:H514Y;ENSP00000438620:H282Y	ENSP00000263710:H514Y	H	-	1	0	CLASP1	121923150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	CAC	CLASP1	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000074054		0.473	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		-	0	39	0	G	NM_015282		122206680	-1	tier1	-	no_errors	ENST00000263710	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	A	A	122206680	G	A	122206680	3	1	151	1	0	0	0	0	1	0	0	0	3461	1348	47	3	3224	3	CLASP1	2	122206680	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	14746705	122206680	120992693	25	38390											
LYPD1	116372	genome.wustl.edu	37	chr2	133403799	133403799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagaaggactggtacccgGcagaggcgatgagacaggcc	12	3	16	10	2	0	3	0	1	0	3	0	6	0	4	2	5	2	3	2	5	2	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:133403799G>A	ENST00000397463.2	-	3	517	c.245C>T	c.(244-246)gCc>gTc	p.A82V	GPR39_ENST00000470071.1_3'UTR|GPR39_ENST00000329321.3_3'UTR|LYPD1_ENST00000345008.6_Missense_Mutation_p.A30V	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	82	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						CTGGTACCCGGCAGAGGCGAT	0.552																																																	0													51	58	55					2																	133403799		2110	4232	6342	SO:0001583	missense	0			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.245C>T	2.37:g.133403799G>A	ENSP00000380605:p.Ala82Val		H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Missense_Mutation	SNP	NULL	p.A82V	ENST00000397463.2	37	c.245	CCDS42759.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.297113	0.95574	.	.	ENSG00000150551	ENST00000409034;ENST00000397463;ENST00000345008	D;D	0.85629	-2.01;-2.01	5.55	5.55	0.83447	Ly-6 antigen / uPA receptor -like (1);	0.137218	0.50627	N	0.000108	D	0.85044	0.5607	N	0.08118	0	0.58432	D	0.999994	D;D	0.69078	0.995;0.997	P;D	0.66196	0.864;0.942	D	0.88560	0.3122	10	0.72032	D	0.01	-12.4729	19.571	0.95419	0.0:0.0:1.0:0.0	.	82;98	Q8N2G4;Q8N2G4-3	LYPD1_HUMAN;.	V	105;82;30	ENSP00000380605:A82V;ENSP00000340563:A30V	ENSP00000340563:A30V	A	-	2	0	LYPD1	133120269	1.000000	0.71417	0.815000	0.32552	0.862000	0.49288	9.593000	0.98250	2.636000	0.89361	0.650000	0.86243	GCC	LYPD1	-	NULL	ENSG00000150551		0.552	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD1	HGNC	protein_coding	OTTHUMT00000331821.1	-	0	34	0	G	NM_144586		133403799	-1	tier1	-	no_errors	ENST00000397463	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.999	A	A	133403799	G	A	133403799	3	1	151	1	0	0	0	0	1	0	0	0	9145	1203	42	3	184	3	LYPD1	2	133403799	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	11197119	133403799	109795574	26	38391											
LRP1B	53353	genome.wustl.edu	37	chr2	141291618	141291618	+	Silent	SNP	T	T	C	0	1	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	tctaattcatcagagttgtcTccgcagtcattttctccatc	8	16	5	12	1	6	1	3	0	3	1	9	1	6	1	2	0	0	2	2	0	1	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:141291618T>C	ENST00000389484.3	-	47	8705	c.7734A>G	c.(7732-7734)ggA>ggG	p.G2578G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2578	LDL-receptor class A 12. {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)		CAGAGTTGTCTCCGCAGTCAT	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													119	113	115					2																	141291618		2203	4300	6503	SO:0001819	synonymous_variant	0			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.7734A>G	2.37:g.141291618T>C			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G2578	ENST00000389484.3	37	c.7734	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	52	0	T	NM_018557		141291618	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	15.00	51	9	SNP	0.922	C	C	141291618	T	C	141291618	2	2	151	1	0	0	0	0	0	0	0	1	8990	1538	54	4		4	LRP1B	2	141291618	Silent	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	7887819	141291618	101907755	27	38392											
LRP1B	53353	genome.wustl.edu	37	chr2	141665526	141665526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggctgcaggcagactgagGtgtcattagcacaaggatgc	10	8	14	9	0	1	2	1	1	0	1	1	3	1	3	0	4	3	4	0	4	2	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:141665526G>T	ENST00000389484.3	-	22	4411	c.3440C>A	c.(3439-3441)aCc>aAc	p.T1147N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1147	LDL-receptor class A 10. {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)		GCAGACTGAGGTGTCATTAGC	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													186	165	172					2																	141665526		2203	4300	6503	SO:0001583	missense	0			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.3440C>A	2.37:g.141665526G>T	ENSP00000374135:p.Thr1147Asn		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T1147N	ENST00000389484.3	37	c.3440	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405728	0.42715	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99070	-5.39;-3.74	5.58	4.65	0.58169	.	0.148955	0.43919	D	0.000505	D	0.96827	0.8964	L	0.42487	1.325	0.49915	D	0.999835	B;P	0.43094	0.056;0.799	B;B	0.37508	0.14;0.252	D	0.96623	0.9461	10	0.16420	T	0.52	.	15.9227	0.79589	0.0:0.1352:0.8648:0.0	.	330;1147	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	N	1147;1085;292	ENSP00000374135:T1147N;ENSP00000413239:T292N	ENSP00000374135:T1147N	T	-	2	0	LRP1B	141381996	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	5.424000	0.66464	2.641000	0.89580	0.585000	0.79938	ACC	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	42	0	G	NM_018557		141665526	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	T	T	141665526	G	T	141665526	3	4	151	1	0	0	0	0	1	0	0	0	8990	1261	44	3	10639	3	LRP1B	2	141665526	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	373908	141665526	101533847	28	38393											
PRPF40A	55660	genome.wustl.edu	37	chr2	153520410	153520412	+	In_Frame_Del	DEL	TCT	TCT	-																															ctttagaatgtcttttattaTcttcttctcgtcatgataac																										TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:153520410_153520412delTCT	ENST00000410080.1	-	18	2490_2492	c.1949_1951delAGA	c.(1948-1953)aagata>ata	p.K650del		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	677	FF 4.				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						TCTTTTATTATCTTCTTCTCGTC	0.271																																																	0																																										SO:0001651	inframe_deletion	0			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.1949_1951delAGA	2.37:g.153520416_153520418delTCT	ENSP00000386458:p.Lys650del		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	In_Frame_Del	DEL	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1	p.K650in_frame_del	ENST00000410080.1	37	c.1951_1949	CCDS46430.1	2																																																																																			PRPF40A	-	NULL	ENSG00000196504		0.271	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2		0	58	0	TCT	XM_371575		153520412	-1	tier1		no_errors	ENST00000410080	ensembl	human	known	74_37	in_frame_del	26.32	28	10	DEL	1.000:1.000:1.000	-	-	153520412	TCT	-	153520410	7	5	151	1	0	1	0	1	0	0	0	0	12613	1435	50	0	877	0	PRPF40A	2	153520410	In_Frame_Del	DEL	TCT	TCGA-R6-A8WG-01A-11D-A37C-09	11854884	153520410	89678963	29	38394											
SCN1A	6323	genome.wustl.edu	37	chr2	166901723	166901723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttttcttcctccgatttcTtctttccttagcactcttgg	3	21	4	13	1	5	0	0	0	5	0	8	1	8	0	3	1	1	1	3	1	1	8			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:166901723T>C	ENST00000303395.4	-	10	1491	c.1492A>G	c.(1492-1494)Aga>Gga	p.R498G	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R498G|SCN1A_ENST00000409050.1_Missense_Mutation_p.R498G|SCN1A_ENST00000423058.2_Missense_Mutation_p.R498G			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	498					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)	CTCCGATTTCTTCTTTCCTTA	0.468																																																	0													198	204	202					2																	166901723		2203	4300	6503	SO:0001583	missense	0			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.1492A>G	2.37:g.166901723T>C	ENSP00000303540:p.Arg498Gly		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.R498G	ENST00000303395.4	37	c.1492	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688200	0.68271	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	6.17	2.4	0.29515	Domain of unknown function DUF3451 (1);	0.072092	0.64402	D	0.000017	D	0.94618	0.8265	M	0.91406	3.205	0.45139	D	0.998153	P;P;P	0.43826	0.557;0.818;0.818	B;P;P	0.47864	0.234;0.559;0.559	D	0.93856	0.7149	10	0.66056	D	0.02	.	13.7464	0.62879	0.0:0.0:0.3768:0.6232	.	498;498;498	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	G	498	ENSP00000407030:R498G;ENSP00000303540:R498G;ENSP00000364554:R498G;ENSP00000386312:R498G	ENSP00000303540:R498G	R	-	1	2	SCN1A	166609969	0.998000	0.40836	0.997000	0.53966	0.998000	0.95712	1.878000	0.39608	0.171000	0.19730	0.533000	0.62120	AGA	SCN1A	-	pfam_DUF3451	ENSG00000144285		0.468	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0	44	0	T	NM_006920		166901723	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	42.31	30	22	SNP	1.000	C	C	166901723	T	C	166901723	3	2	151	1	0	0	0	0	1	0	0	0	13959	1617	56	4	4605	4	SCN1A	2	166901723	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	13381313	166901723	76297650	30	38395											
MYO3B	140469	genome.wustl.edu	37	chr2	171262136	171262136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggcattcagcattatgCtggaaaggtgaggccagtgt	9	12	13	7	0	1	1	1	1	0	0	1	2	1	2	1	4	2	3	1	4	2	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:171262136C>T	ENST00000408978.4	+	21	2656	c.2513C>T	c.(2512-2514)gCt>gTt	p.A838V	MYO3B_ENST00000334231.6_Missense_Mutation_p.A847V|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.A838V	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	838	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CAGCATTATGCTGGAAAGGTG	0.413																																																	0													97	93	94					2																	171262136		1918	4144	6062	SO:0001583	missense	0				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2513C>T	2.37:g.171262136C>T	ENSP00000386213:p.Ala838Val		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.A847V	ENST00000408978.4	37	c.2540	CCDS42773.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.424761	0.96111	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.5	5.5	0.81552	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	H	0.98754	4.32	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	0.99331	1.0909	10	0.87932	D	0	.	19.7578	0.96301	0.0:1.0:0.0:0.0	.	838;838;838	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	V	838;838;837;847;847	ENSP00000386497:A838V;ENSP00000386213:A838V;ENSP00000446237:A847V;ENSP00000335100:A847V	ENSP00000314213:A837V	A	+	2	0	MYO3B	170970382	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.722000	0.84778	2.748000	0.94277	0.655000	0.94253	GCT	MYO3B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000071909		0.413	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1		0	80	0	C			171262136	1			no_errors	ENST00000334231	ensembl	human	known	74_37	missense	5.43	87	5	SNP	1.000	T	T	171262136	C	T	171262136	3	4	151	1	0	0	0	0	1	0	0	0	10115	797	28	3	2595	3	MYO3B	2	171262136	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	4360413	171262136	71937237	31	38396											
TTN	7273	genome.wustl.edu	37	chr2	179431188	179431188	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagactcgtattttatactcTtggtgttcagtgagttttga	8	18	9	6	1	2	3	1	2	1	1	3	3	2	3	0	1	1	3	0	1	3	8			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:179431188T>G	ENST00000591111.1	-	276	74972	c.74748A>C	c.(74746-74748)caA>caC	p.Q24916H	TTN_ENST00000342175.6_Missense_Mutation_p.Q17684H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q17617H|TTN_ENST00000460472.2_Missense_Mutation_p.Q17492H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q26557H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q23989H|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24916	Fibronectin type-III 81. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTATACTCTTGGTGTTCAG	0.408																																																	0													139	140	139					2																	179431188		1891	4117	6008	SO:0001583	missense	0			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.74748A>C	2.37:g.179431188T>G	ENSP00000465570:p.Gln24916His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q23989H	ENST00000591111.1	37	c.71967		2	.	.	.	.	.	.	.	.	.	.	T	9.866	1.197527	0.22037	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.92	-0.864	0.10666	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57651	0.2068	L	0.37750	1.13	0.42393	D	0.992532	D;D;D;D	0.65815	0.995;0.995;0.995;0.995	D;D;D;D	0.66716	0.946;0.946;0.946;0.946	T	0.59241	-0.7491	9	0.87932	D	0	.	11.6572	0.51325	0.0:0.4735:0.0:0.5265	.	17492;17617;17684;24916	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	23989;17492;17684;17617;17490	ENSP00000343764:Q23989H;ENSP00000434586:Q17492H;ENSP00000340554:Q17684H;ENSP00000352154:Q17617H	ENSP00000340554:Q17684H	Q	-	3	2	TTN	179139434	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	2.019000	0.41001	-0.092000	0.12417	-0.441000	0.05720	CAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	65	0	T	NM_133378		179431188	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	30.65	43	19	SNP	0.994	G	G	179431188	T	G	179431188	3	3	151	1	0	0	0	0	1	0	0	0	16784	1606	56	4	28456	4	TTN	2	179431188	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	8169052	179431188	63768185	32	38397											
NCKAP1	10787	genome.wustl.edu	37	chr2	183817847	183817847	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	aatgcattccttaccaatttGtgtatagacttgtaatggtt	11	17	7	6	0	0	1	0	0	0	1	1	1	1	1	2	1	2	4	2	1	6	8			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:183817847G>C	ENST00000361354.4	-	21	2738	c.2366C>G	c.(2365-2367)aCa>aGa	p.T789R	NCKAP1_ENST00000360982.2_Missense_Mutation_p.T795R	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	789					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)			TTACCAATTTGTGTATAGACT	0.289																																																	0													84	81	82					2																	183817847		2203	4299	6502	SO:0001583	missense	0			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.2366C>G	2.37:g.183817847G>C	ENSP00000355348:p.Thr789Arg		O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	pfam_Nck-associated_protein-1	p.T795R	ENST00000361354.4	37	c.2384	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026507	0.93518	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.35789	1.29;1.29	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.81802	2.56	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.71414	0.973;0.954	T	0.65784	-0.6084	10	0.72032	D	0.01	-15.3272	20.8794	0.99867	0.0:0.0:1.0:0.0	.	789;795	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	R	789;795	ENSP00000355348:T789R;ENSP00000354251:T795R	ENSP00000354251:T795R	T	-	2	0	NCKAP1	183526092	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	ACA	NCKAP1	-	pfam_Nck-associated_protein-1	ENSG00000061676		0.289	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	-	0	77	0	G	NM_205842		183817847	-1	tier1	-	no_errors	ENST00000360982	ensembl	human	known	74_37	missense	7.78	83	7	SNP	1.000	C	C	183817847	G	C	183817847	3	2	151	1	0	0	0	0	1	0	0	0	10260	1377	48	5	1064	5	NCKAP1	2	183817847	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	4386659	183817847	59381526	33	38398											
ZNF804A	91752	genome.wustl.edu	37	chr2	185803450	185803450	+	Silent	SNP	T	T	C	0	1	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	ttgcagcagcacgctgcagcTgctgcagctgcagctgcagc	7	7	13	14	1	0	0	0	0	0	0	0	0	0	0	0	0	12	12	0	0	0	1	rs376180864		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:185803450T>C	ENST00000302277.6	+	4	3921	c.3327T>C	c.(3325-3327)gcT>gcC	p.A1109A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1109							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						acgctgcagctgctgcagctg	0.532																																																	0								T		0,4406		0,0,2203	51	58	55		3327	-6.8	0.4	2		55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF804A	NM_194250.1		0,2,6501	CC,CT,TT		0.0233,0.0,0.0154		1109/1210	185803450	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3327T>C	2.37:g.185803450T>C			A7E253|Q6ZN26	Silent	SNP	pfam_Znf_C2H2_jaz	p.A1109	ENST00000302277.6	37	c.3327	CCDS2291.1	2																																																																																			ZNF804A	-	NULL	ENSG00000170396		0.532	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	21	0	T	NM_194250		185803450	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	silent	17.86	22	5	SNP	0.175	C	C	185803450	T	C	185803450	2	2	151	1	0	0	0	0	0	0	0	1	18218	1567	55	4		4	ZNF804A	2	185803450	Silent	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	1985603	185803450	57395923	34	38399											
DNAH7	56171	genome.wustl.edu	37	chr2	196788460	196788460	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gttacgcgattctgcatggaCaatttgccacgcaccaaagt	11	10	9	11	3	1	0	0	0	1	0	1	2	1	1	2	1	3	3	2	1	3	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:196788460C>A	ENST00000312428.6	-	23	3784	c.3684G>T	c.(3682-3684)ttG>ttT	p.L1228F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1228	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						TCTGCATGGACAATTTGCCAC	0.378																																																	0													117	108	111					2																	196788460		1971	4163	6134	SO:0001583	missense	0			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.3684G>T	2.37:g.196788460C>A	ENSP00000311273:p.Leu1228Phe		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L1228F	ENST00000312428.6	37	c.3684	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040798	0.35989	.	.	ENSG00000118997	ENST00000312428	T	0.64991	-0.13	5.03	0.709	0.18150	.	0.000000	0.64402	D	0.000007	D	0.84124	0.5403	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80621	-0.1301	10	0.87932	D	0	.	5.4733	0.16682	0.0:0.5659:0.1337:0.3004	.	1228	Q8WXX0	DYH7_HUMAN	F	1228	ENSP00000311273:L1228F	ENSP00000311273:L1228F	L	-	3	2	DNAH7	196496705	0.956000	0.32656	0.996000	0.52242	0.068000	0.16541	0.121000	0.15667	0.216000	0.20781	0.655000	0.94253	TTG	DNAH7	-	NULL	ENSG00000118997		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	22	0	C	NM_018897		196788460	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.985	A	A	196788460	C	A	196788460	3	1	151	1	0	0	0	0	1	0	0	0	4620	477	17	3	8562	3	DNAH7	2	196788460	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	10985010	196788460	46410913	35	38400											
RAPH1	65059	genome.wustl.edu	37	chr2	204360004	204360004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaggctccaaacattttgtCcaggtcctgatcttccttgt	7	14	7	13	0	1	1	0	1	1	0	5	1	5	1	5	2	1	1	5	2	1	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:204360004C>T	ENST00000319170.5	-	2	372	c.73G>A	c.(73-75)Gac>Aac	p.D25N	RAPH1_ENST00000423104.1_Missense_Mutation_p.D25N|RAPH1_ENST00000308091.4_Missense_Mutation_p.D25N|RAPH1_ENST00000374488.2_Missense_Mutation_p.D25N|RAPH1_ENST00000453034.1_Missense_Mutation_p.D25N|RAPH1_ENST00000439222.1_Missense_Mutation_p.D25N|RAPH1_ENST00000457812.1_Missense_Mutation_p.D25N|RAPH1_ENST00000374493.3_Missense_Mutation_p.D25N|RAPH1_ENST00000419464.1_Missense_Mutation_p.D25N|RAPH1_ENST00000418114.1_Missense_Mutation_p.D25N|RAPH1_ENST00000374489.2_Missense_Mutation_p.D25N	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	25					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						AACATTTTGTCCAGGTCCTGA	0.413																																																	0													189	174	179					2																	204360004		2203	4300	6503	SO:0001583	missense	0			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.73G>A	2.37:g.204360004C>T	ENSP00000316543:p.Asp25Asn		Q96Q37|Q9C0I2	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.D25N	ENST00000319170.5	37	c.73	CCDS2359.1	2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702956	0.88924	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201;ENST00000428637;ENST00000420371	T;T;T;T;T;T;T;T;T;T;T	0.64991	-0.03;0.04;0.02;-0.13;-0.09;0.0;-0.09;-0.04;-0.13;0.0;-0.04	5.79	5.79	0.91817	.	0.000000	0.53938	D	0.000045	T	0.79516	0.4459	M	0.69358	2.11	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.999;0.989;0.996	T	0.80139	-0.1507	10	0.87932	D	0	-20.2952	20.0205	0.97499	0.0:1.0:0.0:0.0	.	25;25;25	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	N	25	ENSP00000392854:D25N;ENSP00000316543:D25N;ENSP00000363617:D25N;ENSP00000363613:D25N;ENSP00000363612:D25N;ENSP00000311293:D25N;ENSP00000411138:D25N;ENSP00000390578:D25N;ENSP00000397751:D25N;ENSP00000406662:D25N;ENSP00000396711:D25N	ENSP00000311293:D25N	D	-	1	0	RAPH1	204068249	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.487000	0.81328	2.740000	0.93945	0.561000	0.74099	GAC	RAPH1	-	NULL	ENSG00000173166		0.413	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2	-	0	68	0	C	NM_025252		204360004	-1	tier1	-	no_errors	ENST00000374493	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	204360004	C	T	204360004	3	4	151	1	0	0	0	0	1	0	0	0	13095	855	30	3	3902	3	RAPH1	2	204360004	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	7571544	204360004	38839369	36	38401											
OBSL1	23363	genome.wustl.edu	37	chr2	220435003	220435003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgagttgcgcgcggcgcagaCgtagagcccacgatccttgg	7	6	15	13	7	0	2	0	0	0	2	1	4	1	2	2	2	2	3	2	2	1	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:220435003C>T	ENST00000404537.1	-	1	1008	c.952G>A	c.(952-954)Gtc>Atc	p.V318I	OBSL1_ENST00000265318.4_Missense_Mutation_p.V318I|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373873.4_Missense_Mutation_p.V318I|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000603926.1_Missense_Mutation_p.V318I|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000373876.1_Missense_Mutation_p.V318I|INHA_ENST00000489456.1_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	318	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)		GCGGCGCAGACGTAGAGCCCA	0.701																																																	0													21	25	24					2																	220435003		2044	4159	6203	SO:0001583	missense	0			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.952G>A	2.37:g.220435003C>T	ENSP00000385636:p.Val318Ile		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V318I	ENST00000404537.1	37	c.952	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134147	0.77662	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	4.8	3.89	0.44902	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68732	0.3033	N	0.17345	0.48	0.80722	D	1	P;D	0.67145	0.945;0.996	P;P	0.55871	0.786;0.585	T	0.66221	-0.5978	9	0.31617	T	0.26	.	12.0375	0.53433	0.0:0.8576:0.0:0.1424	.	318;318	O75147;O75147-2	OBSL1_HUMAN;.	I	318	ENSP00000265318:V318I;ENSP00000385636:V318I;ENSP00000362983:V318I;ENSP00000362980:V318I	ENSP00000265318:V318I	V	-	1	0	OBSL1	220143247	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.557000	0.45871	2.491000	0.84063	0.407000	0.27541	GTC	OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000124006		0.701	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1		0	17	0	C			220435003	-1			no_errors	ENST00000404537	ensembl	human	known	74_37	missense	29.41	12	5	SNP	1.000	T	T	220435003	C	T	220435003	3	4	151	1	0	0	0	0	1	0	0	0	10852	536	19	1	4974	1	OBSL1	2	220435003	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	16074999	220435003	22764370	37	38402											
SP100	6672	genome.wustl.edu	37	chr2	231404024	231404024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aggtgtgcaacaaatggggaCggctgttctgctgcgacact	9	9	14	9	2	1	0	0	0	1	0	1	2	1	1	0	4	4	4	0	4	2	1	rs199971910	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:231404024C>T	ENST00000340126.4	+	25	2168	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAAATGGGGACGGCTGTTCTG	0.498													C|||	2	0.000399361	0	0	5008	,	,		21099	0		0.002	False		,,,				2504	0																0								C	TRP/ARG	1,4117		0,1,2058	129	133	132		2137	-8.5	0	2		132	28,8376		0,28,4174	yes	missense	SP100	NM_001080391.1	101	0,29,6232	TT,TC,CC		0.3332,0.0243,0.2316	possibly-damaging	713/886	231404024	29,12493	2059	4202	6261	SO:0001583	missense	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2137C>T	2.37:g.231404024C>T	ENSP00000343023:p.Arg713Trp		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.R713W	ENST00000340126.4	37	c.2137	CCDS42832.1	2	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	C|C	9.927|9.927	1.213851|1.213851	0.22289|0.22289	2.43E-4|2.43E-4	0.003332|0.003332	ENSG00000067066|ENSG00000067066	ENST00000340126;ENST00000414648|ENST00000431952	D|.	0.85013|.	-1.93|.	4.24|4.24	-8.48|-8.48	0.00935|0.00935	.|.	.|.	.|.	.|.	.|.	T|T	0.16041|0.16041	0.0386|0.0386	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;D|.	0.56968|.	0.296;0.978|.	B;B|.	0.43916|.	0.122;0.436|.	T|T	0.21518|0.21518	-1.0243|-1.0243	9|5	0.49607|.	T|.	0.09|.	.|.	7.2749|7.2749	0.26279|0.26279	0.1355:0.6002:0.1598:0.1045|0.1355:0.6002:0.1598:0.1045	.|.	183;713|.	E9PHN1;P23497-4|.	.;.|.	W|M	713;183|86	ENSP00000343023:R713W|.	ENSP00000343023:R713W|.	R|T	+|+	1|2	2|0	SP100|SP100	231112268|231112268	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-2.490000|-2.490000	0.00975|0.00975	-2.504000|-2.504000	0.00508|0.00508	-1.194000|-1.194000	0.01681|0.01681	CGG|ACG	SP100	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000067066		0.498	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000332246.1		0	36	0	C	NM_003113		231404024	1			no_errors	ENST00000340126	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.000	T	T	231404024	C	T	231404024	3	4	151	1	0	0	0	0	1	0	0	0	15005	527	19	1	2785	1	SP100	2	231404024	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	10969021	231404024	11795349	38	38403											
CNTN6	27255	genome.wustl.edu	37	chr3	1262380	1262380	+	Frame_Shift_Del	DEL	T	T	-																															tcttttcccaggtgatggtcTtttaagccgtcctattttta																										TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:1262380delT	ENST00000446702.2	+	3	692	c.65delT	c.(64-66)cttfs	p.L23fs	CNTN6_ENST00000350110.2_Frame_Shift_Del_p.L23fs|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	23					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)		GGTGATGGTCTTTTAAGCCGT	0.333																																																	0													126	120	122					3																	1262380		2203	4300	6503	SO:0001589	frameshift_variant	0			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.65delT	3.37:g.1262380delT	ENSP00000407822:p.Leu23fs		Q2KHM2	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L23fs	ENST00000446702.2	37	c.65	CCDS2557.1	3																																																																																			CNTN6	-	NULL	ENSG00000134115		0.333	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2		0	103	0	T	NM_014461		1262380	1	tier1		no_errors	ENST00000350110	ensembl	human	known	74_37	frame_shift_del	55.38	29	36	DEL	0.000	-	-	1262380	T	-	1262380	7	5	151	1	0	1	0	1	0	0	0	0	3652	1609	56	0	71	0	CNTN6	3	1262380	Frame_Shift_Del	DEL	T	TCGA-R6-A8WG-01A-11D-A37C-09		1262380	196760050	39	38404											
CAMK1	8536	genome.wustl.edu	37	chr3	9803338	9803338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtatcccggagttccacagGcggtggagagcacactgccc	8	6	13	14	3	0	1	0	0	0	1	2	3	2	2	3	4	2	3	3	4	1	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:9803338G>T	ENST00000256460.3	-	6	710	c.533C>A	c.(532-534)gCc>gAc	p.A178D	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		AGTTCCACAGGCGGTGGAGAG	0.592																																																	0													69	71	70					3																	9803338		2203	4300	6503	SO:0001583	missense	0			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.533C>A	3.37:g.9803338G>T	ENSP00000256460:p.Ala178Asp		Q3KPF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A178D	ENST00000256460.3	37	c.533	CCDS2582.1	3	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720205	0.89205	.	.	ENSG00000134072	ENST00000256460	T	0.40476	1.03	4.88	4.88	0.63580	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	0.58807	0.2148	L	0.41961	1.31	0.80722	D	1	D	0.69078	0.997	D	0.91635	0.999	T	0.62932	-0.6749	10	0.87932	D	0	-12.1612	18.0487	0.89341	0.0:0.0:1.0:0.0	.	178	Q14012	KCC1A_HUMAN	D	178	ENSP00000256460:A178D	ENSP00000256460:A178D	A	-	2	0	CAMK1	9778338	1.000000	0.71417	0.996000	0.52242	0.654000	0.38779	9.802000	0.99131	2.255000	0.74692	0.655000	0.94253	GCC	CAMK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000134072		0.592	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1	HGNC	protein_coding	OTTHUMT00000250206.1		0	70	0	G	NM_003656		9803338	-1			no_errors	ENST00000256460	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	T	T	9803338	G	T	9803338	3	4	151	1	0	0	0	0	1	0	0	0	2603	1203	42	3	607	3	CAMK1	3	9803338	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	8540958	9803338	188219092	40	38405											
SCN5A	6331	genome.wustl.edu	37	chr3	38592968	38592968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcggatcagtctgaggatgCggcctattcgggccaggcgg	6	8	16	11	4	2	1	1	1	1	0	4	3	2	3	2	6	1	0	2	6	1	2	rs199473286		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:38592968C>T	ENST00000333535.4	-	28	5044	c.4895G>A	c.(4894-4896)cGc>cAc	p.R1632H	SCN5A_ENST00000451551.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1631H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1599H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1632H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1614H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1614H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1631H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1578H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1632					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTGAGGATGCGGCCTATTCG	0.592																																																	0			GRCh37	CM033023	SCN5A	M							97	99	98					3																	38592968		2203	4300	6503	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4895G>A	3.37:g.38592968C>T	ENSP00000328968:p.Arg1632His		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.R1632H	ENST00000333535.4	37	c.4895	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498866	0.85069	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97315	3.98	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;0.987	D;D;D;D;D;P	0.87578	0.997;0.998;0.997;0.948;0.994;0.728	D	0.96728	0.9537	10	0.87932	D	0	.	17.4903	0.87701	0.0:1.0:0.0:0.0	.	1578;1599;1614;1632;1631;1632	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1614;1631;1632;1578;1631;1614;1632;1599;1578;1578	ENSP00000398962:R1614H;ENSP00000398266:R1631H;ENSP00000410257:R1632H;ENSP00000388797:R1578H;ENSP00000397915:R1631H;ENSP00000416634:R1614H;ENSP00000328968:R1632H;ENSP00000399524:R1599H;ENSP00000403355:R1578H;ENSP00000413996:R1578H	ENSP00000328968:R1632H	R	-	2	0	SCN5A	38567972	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.835000	0.69368	2.353000	0.79882	0.561000	0.74099	CGC	SCN5A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000183873		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0	47	0	C	NM_198056		38592968	-1	tier1	rs199473286	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	39.13	42	27	SNP	1.000	T	T	38592968	C	T	38592968	3	4	151	1	0	0	0	0	1	0	0	0	13967	768	27	1	1159	1	SCN5A	3	38592968	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	28789630	38592968	159429462	41	38406											
MYRIP	25924	genome.wustl.edu	37	chr3	40085745	40085745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaggcctgggtctgctgCgtctgccagcaagcgaggtg	8	7	16	10	2	2	0	0	0	2	0	2	2	2	0	2	3	5	2	2	3	3	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:40085745C>T	ENST00000302541.6	+	3	657	c.315C>T	c.(313-315)tgC>tgT	p.C105C	MYRIP_ENST00000396217.3_Missense_Mutation_p.A62V|MYRIP_ENST00000444716.1_Silent_p.C105C|MYRIP_ENST00000425621.1_Silent_p.C105C	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	105	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)		GGGTCTGCTGCGTCTGCCAGC	0.537																																																	0													65	61	62					3																	40085745		2203	4300	6503	SO:0001819	synonymous_variant	0			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.315C>T	3.37:g.40085745C>T			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myrip/Melanophilin	p.A62V	ENST00000302541.6	37	c.185	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531888	0.45073	.	.	ENSG00000170011	ENST00000396217	T	0.35236	1.32	5.51	-8.2	0.01045	.	.	.	.	.	T	0.22475	0.0542	.	.	.	0.42224	D	0.99186	B	0.06786	0.001	B	0.04013	0.001	T	0.15636	-1.0430	7	.	.	.	.	18.6671	0.91495	0.0:0.2092:0.0:0.7908	.	62	Q32M42	.	V	62	ENSP00000379519:A62V	.	A	+	2	0	MYRIP	40060749	0.003000	0.15002	0.457000	0.27056	0.939000	0.58152	-1.290000	0.02777	-1.899000	0.01098	-0.471000	0.05019	GCG	MYRIP	-	NULL	ENSG00000170011		0.537	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2		0	34	0	C	NM_015460		40085745	1			no_errors	ENST00000396217	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.296	T	T	40085745	C	T	40085745	2	4	151	1	0	0	0	0	0	0	0	1	10138	776	27	1		1	MYRIP	3	40085745	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	1492777	40085745	157936685	42	38407											
CTNNB1	1499	genome.wustl.edu	37	chr3	41266113	41266113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggactctggaatccattCtggtgccactaccacagctc	8	10	8	15	0	2	0	0	0	2	0	4	2	3	2	4	3	3	1	4	3	2	2	rs121913416|rs121913403		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:41266113C>T	ENST00000349496.5	+	3	390	c.110C>T	c.(109-111)tCt>tTt	p.S37F	CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes). {ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> C (in PTR, hepatoblastoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:9927029}.|S -> F (in PTR). {ECO:0000269|PubMed:10192393}.|S -> Y (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|SG -> W (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		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)	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	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)		GGAATCCATTCTGGTGCCACT	0.498	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	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"	474	Substitution - Missense(344)|Deletion - In frame(102)|Complex - deletion inframe(18)|Unknown(7)|Deletion - Frameshift(3)	liver(145)|endometrium(64)|stomach(38)|skin(34)|ovary(33)|central_nervous_system(28)|pancreas(28)|large_intestine(22)|pituitary(22)|lung(21)|biliary_tract(15)|thyroid(4)|soft_tissue(4)|urinary_tract(4)|small_intestine(3)|oesophagus(3)|adrenal_gland(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|bone(1)|breast(1)											93	78	83					3																	41266113		2203	4300	6503	SO:0001583	missense	0	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.110C>T	3.37:g.41266113C>T	ENSP00000344456:p.Ser37Phe		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.S37F	ENST00000349496.5	37	c.110	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513375	0.85389	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;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;0.73	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75297	-0.3367	10	0.87932	D	0	-15.9763	19.9596	0.97236	0.0:1.0:0.0:0.0	.	37	P35222	CTNB1_HUMAN	F	30;37;37;37;37;30;37;37;37	ENSP00000400508:S30F;ENSP00000385604:S37F;ENSP00000412219:S37F;ENSP00000379486:S37F;ENSP00000344456:S37F;ENSP00000411226:S30F;ENSP00000379488:S37F;ENSP00000409302:S37F;ENSP00000401599:S37F	ENSP00000344456:S37F	S	+	2	0	CTNNB1	41241117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCT	CTNNB1	-	NULL	ENSG00000168036		0.498	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	-	0	58	0	C	NM_001098210		41266113	1	tier1	rs121913403	no_errors	ENST00000349496	ensembl	human	known	74_37	missense	12.50	56	8	SNP	1.000	T	T	41266113	C	T	41266113	3	4	151	1	0	0	0	0	1	0	0	0	4025	913	32	3	116	3	CTNNB1	3	41266113	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	1180368	41266113	156756317	43	38408											
ULK4	54986	genome.wustl.edu	37	chr3	41497036	41497036	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagaggtctgttgagcagCagcaggtcttctgcagcctg	7	10	14	10	0	4	2	1	1	3	1	4	2	4	2	1	2	5	5	1	2	0	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:41497036C>A	ENST00000301831.4	-	34	3906	c.3444G>T	c.(3442-3444)ctG>ctT	p.L1148L		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1148	Poly-Leu.				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)		TGTTGAGCAGCAGCAGGTCTT	0.493																																																	0													104	106	106					3																	41497036		1922	4140	6062	SO:0001819	synonymous_variant	0			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.3444G>T	3.37:g.41497036C>A			A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L1148	ENST00000301831.4	37	c.3444	CCDS43071.1	3																																																																																			ULK4	-	superfamily_ARM-type_fold	ENSG00000168038		0.493	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	-	0	54	0	C	XM_929989		41497036	-1	tier1	-	no_errors	ENST00000301831	ensembl	human	known	74_37	silent	22.64	41	12	SNP	1.000	A	A	41497036	C	A	41497036	2	1	151	1	0	0	0	0	0	0	0	1	17027	697	25	3		3	ULK4	3	41497036	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	230923	41497036	156525394	44	38409											
CCR1	1230	genome.wustl.edu	37	chr3	46245372	46245372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccaaaagtgacggtccGtgcccgcaaggcaaacacgg	13	3	12	13	4	0	1	0	1	0	0	1	2	1	1	3	3	2	2	3	3	4	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:46245372G>A	ENST00000296140.3	-	2	558	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	145					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTGACGGTCCGTGCCCGCAAG	0.507																																																	0													78	73	75					3																	46245372		2203	4300	6503	SO:0001583	missense	0				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.433C>T	3.37:g.46245372G>A	ENSP00000296140:p.Arg145Trp		Q86VA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt	p.R145W	ENST00000296140.3	37	c.433	CCDS2737.1	3	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657342	0.47467	.	.	ENSG00000163823	ENST00000296140	T	0.39787	1.06	4.86	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.65873	0.2733	H	0.95574	3.69	0.58432	D	0.999997	D	0.53312	0.959	P	0.54590	0.756	T	0.75382	-0.3337	10	0.87932	D	0	.	10.4114	0.44296	0.0:0.0:0.5644:0.4356	.	145	P32246	CCR1_HUMAN	W	145	ENSP00000296140:R145W	ENSP00000296140:R145W	R	-	1	2	CCR1	46220376	0.989000	0.36119	0.825000	0.32803	0.074000	0.17049	1.870000	0.39529	2.412000	0.81896	0.655000	0.94253	CGG	CCR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt	ENSG00000163823		0.507	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2	-	0	36	0	G	NM_001295		46245372	-1	tier1	-	no_errors	ENST00000296140	ensembl	human	known	74_37	missense	36.59	26	15	SNP	0.997	A	A	46245372	G	A	46245372	3	1	151	1	0	0	0	0	1	0	0	0	2946	1144	40	1	638	1	CCR1	3	46245372	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	4748336	46245372	151777058	45	38410											
SCAP	22937	genome.wustl.edu	37	chr3	47476506	47476506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgagtacccacccactcagGctgctcagtaggctctcctt	8	9	8	16	1	3	0	2	0	1	0	4	1	3	0	3	2	2	5	3	2	2	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:47476506G>T	ENST00000265565.5	-	3	656	c.244C>A	c.(244-246)Cct>Act	p.P82T	SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	82					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)		ACCCACTCAGGCTGCTCAGTA	0.587																																					Pancreas(149;978 1908 29304 37806 46700)												0													97	94	95					3																	47476506		2203	4300	6503	SO:0001583	missense	0			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.244C>A	3.37:g.47476506G>T	ENSP00000265565:p.Pro82Thr		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P82T	ENST00000265565.5	37	c.244	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803879	0.70682	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603;ENST00000448217	D	0.82619	-1.63	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.81192	0.4771	L	0.60455	1.87	0.80722	D	1	P	0.46621	0.881	P	0.44359	0.447	T	0.78084	-0.2342	10	0.07325	T	0.83	-18.5159	18.3633	0.90382	0.0:0.0:1.0:0.0	.	82	Q12770	SCAP_HUMAN	T	82	ENSP00000265565:P82T	ENSP00000265565:P82T	P	-	1	0	SCAP	47451510	1.000000	0.71417	0.997000	0.53966	0.295000	0.27426	8.778000	0.91785	2.672000	0.90937	0.462000	0.41574	CCT	SCAP	-	NULL	ENSG00000114650		0.587	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	-	0	48	0	G	NM_012235		47476506	-1	tier1	-	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	47476506	G	T	47476506	3	4	151	1	0	0	0	0	1	0	0	0	13922	1203	42	3	3679	3	SCAP	3	47476506	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	1231134	47476506	150545924	46	38411											
PLXNB1	5364	genome.wustl.edu	37	chr3	48461561	48461561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtggagggagccccaggctCcacgggaagggtgtcaggag	8	5	19	9	1	1	0	1	0	0	0	2	4	2	4	3	6	1	1	3	6	1	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:48461561C>G	ENST00000358536.4	-	11	2403	c.2134G>C	c.(2134-2136)Gag>Cag	p.E712Q	PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.E712Q|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	712	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)		GCCCCAGGCTCCACGGGAAGG	0.677																																																	0													11	12	11					3																	48461561		2189	4277	6466	SO:0001583	missense	0			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.2134G>C	3.37:g.48461561C>G	ENSP00000351338:p.Glu712Gln		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.E712Q	ENST00000358536.4	37	c.2134	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	8.675	0.903800	0.17760	.	.	ENSG00000164050	ENST00000296440;ENST00000358536	T;T	0.03272	3.99;3.99	4.48	3.61	0.41365	.	1.196700	0.06126	N	0.669659	T	0.02193	0.0068	N	0.08118	0	0.32933	D	0.517428	B	0.33694	0.421	B	0.21917	0.037	T	0.39961	-0.9588	10	0.15066	T	0.55	.	9.7629	0.40543	0.0:0.9032:0.0:0.0968	.	712	O43157	PLXB1_HUMAN	Q	712	ENSP00000296440:E712Q;ENSP00000351338:E712Q	ENSP00000296440:E712Q	E	-	1	0	PLXNB1	48436565	0.000000	0.05858	0.070000	0.20053	0.151000	0.21798	0.664000	0.25068	0.876000	0.35872	0.561000	0.74099	GAG	PLXNB1	-	NULL	ENSG00000164050		0.677	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	-	0	65	0	C	NM_002673		48461561	-1	tier1	-	no_errors	ENST00000296440	ensembl	human	known	74_37	missense	8.82	62	6	SNP	0.020	G	G	48461561	C	G	48461561	3	3	151	1	0	0	0	0	1	0	0	0	12162	864	30	5	4385	5	PLXNB1	3	48461561	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	985055	48461561	149560869	47	38412											
ARIH2	10425	genome.wustl.edu	37	chr3	49008111	49008111	+	Silent	SNP	G	G	A	0	0	1	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	cctagagctcgccgagtacaGtgcaatcggtgcaacgaggt	10	7	13	11	4	0	1	0	0	0	1	2	3	0	1	2	2	5	4	2	2	4	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:49008111G>A	ENST00000356401.4	+	8	1083	c.744G>A	c.(742-744)caG>caA	p.Q248Q	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Silent_p.Q248Q	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	248					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)		GCCGAGTACAGTGCAATCGGT	0.567																																																	0													102	96	98					3																	49008111		2203	4300	6503	SO:0001819	synonymous_variant	0			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.744G>A	3.37:g.49008111G>A			Q9HBZ6|Q9UEM9	Silent	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.Q248	ENST00000356401.4	37	c.744	CCDS2780.1	3																																																																																			ARIH2	-	pfam_Znf_C6HC,smart_Znf_C6HC	ENSG00000177479		0.567	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	-	0	22	0	G	NM_006321		49008111	1	tier1	-	no_errors	ENST00000356401	ensembl	human	known	74_37	silent	19.35	25	6	SNP	1.000	A	A	49008111	G	A	49008111	2	1	151	1	0	0	0	0	0	0	0	1	924	1020	36	3		3	ARIH2	3	49008111	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	546550	49008111	149014319	48	38413											
APEH	327	genome.wustl.edu	37	chr3	49717029	49717029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcctctgcttcaggacCtgtttgctgtggacacccaa	6	12	9	14	0	2	0	1	0	1	0	2	2	2	2	4	2	3	3	4	2	1	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:49717029C>G	ENST00000296456.5	+	13	1562	c.1162C>G	c.(1162-1164)Ctg>Gtg	p.L388V	APEH_ENST00000438011.1_Missense_Mutation_p.L388V	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	388					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)		GCTTCAGGACCTGTTTGCTGT	0.597																																																	0													286	229	248					3																	49717029		2203	4300	6503	SO:0001583	missense	0			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.1162C>G	3.37:g.49717029C>G	ENSP00000296456:p.Leu388Val		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro	p.L388V	ENST00000296456.5	37	c.1162	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	C	8.129	0.782597	0.16189	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.42513	0.97;0.97	4.59	4.59	0.56863	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.150489	0.45867	D	0.000327	T	0.27798	0.0684	N	0.24115	0.695	0.43222	D	0.9951	B;B	0.24426	0.103;0.103	B;B	0.18871	0.023;0.023	T	0.06917	-1.0800	10	0.15952	T	0.53	-18.473	14.2349	0.65919	0.0:1.0:0.0:0.0	.	388;388	C9JIF9;P13798	.;ACPH_HUMAN	V	388	ENSP00000296456:L388V;ENSP00000415862:L388V	ENSP00000296456:L388V	L	+	1	2	APEH	49692033	0.795000	0.28851	1.000000	0.80357	0.882000	0.50991	0.670000	0.25157	2.370000	0.80446	0.462000	0.41574	CTG	APEH	-	NULL	ENSG00000164062		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEH	HGNC	protein_coding	OTTHUMT00000346415.2	-	0	27	0	C			49717029	1	tier1	-	no_errors	ENST00000296456	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	G	G	49717029	C	G	49717029	3	3	151	1	0	0	0	0	1	0	0	0	768	680	24	5	1212	5	APEH	3	49717029	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	708918	49717029	148305401	49	38414											
OR5K4	403278	genome.wustl.edu	37	chr3	98073607	98073607	+	Missense_Mutation	SNP	A	A	T	1	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	ttcttaaaaaaattatgaggAattataacattcttaaacaa	20	14	3	4	0	2	1	0	1	2	0	2	2	2	2	0	1	2	0	0	1	11	7			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:98073607A>T	ENST00000354924.2	+	1	910	c.910A>T	c.(910-912)Aat>Tat	p.N304Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	304						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)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AATTATGAGGAATTATAACAT	0.239																																																	0													71	90	83					3																	98073607		2162	4246	6408	SO:0001583	missense	0				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"GPCR / Class A : Olfactory receptors"	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.910A>T	3.37:g.98073607A>T	ENSP00000347003:p.Asn304Tyr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N304Y	ENST00000354924.2	37	c.910	CCDS33802.1	3	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381981	0.24944	.	.	ENSG00000196098	ENST00000354924	T	0.37058	1.22	4.83	2.38	0.29361	.	0.777035	0.10423	U	0.676511	T	0.25382	0.0617	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.26430	-1.0103	10	0.87932	D	0	8.5381	5.4065	0.16324	0.7576:0.0:0.0874:0.155	.	304	A6NMS3	OR5K4_HUMAN	Y	304	ENSP00000347003:N304Y	ENSP00000347003:N304Y	N	+	1	0	OR5K4	99556297	0.003000	0.15002	0.000000	0.03702	0.059000	0.15707	2.006000	0.40874	0.393000	0.25203	0.438000	0.28831	AAT	OR5K4	-	NULL	ENSG00000196098		0.239	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K4	HGNC	protein_coding	OTTHUMT00000359114.1	-	0	43	0	A			98073607	1	tier1	-	no_errors	ENST00000354924	ensembl	human	known	74_37	missense	43.40	30	23	SNP	0.003	T	T	98073607	A	T	98073607	3	4	151	1	0	0	0	0	1	0	0	0	11208	246	9	5	912	5	OR5K4	3	98073607	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	48356578	98073607	99948823	50	38415											
CBLB	868	genome.wustl.edu	37	chr3	105459455	105459455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccactgtcccaatcgagtgCaacttaaccggaaaatatag	14	8	7	12	2	0	0	0	0	0	0	2	2	1	1	3	1	3	1	3	1	7	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:105459455C>T	ENST00000264122.4	-	7	1187	c.866G>A	c.(865-867)tGc>tAc	p.C289Y	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.C289Y|CBLB_ENST00000403724.1_Missense_Mutation_p.C289Y|CBLB_ENST00000394027.3_Missense_Mutation_p.C311Y	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	289	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						CAATCGAGTGCAACTTAACCG	0.368			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													107	90	96					3																	105459455		2203	4300	6503	SO:0001583	missense	0			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.866G>A	3.37:g.105459455C>T	ENSP00000264122:p.Cys289Tyr		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.C289Y	ENST00000264122.4	37	c.866	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740695	0.89573	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	5.92	5.92	0.95590	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.94374	0.8191	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94288	0.7526	10	0.87932	D	0	-10.3674	20.3172	0.98658	0.0:1.0:0.0:0.0	.	311;289;289	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	Y	289;311;289;289	ENSP00000264122:C289Y;ENSP00000377595:C311Y;ENSP00000384816:C289Y;ENSP00000384938:C289Y	ENSP00000264122:C289Y	C	-	2	0	CBLB	106942145	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.479000	0.81095	2.801000	0.96364	0.650000	0.86243	TGC	CBLB	-	pfam_Adaptor_Cbl_SH2-like	ENSG00000114423		0.368	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	-	0	55	0	C	NM_170662		105459455	-1	tier1	-	no_errors	ENST00000264122	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	105459455	C	T	105459455	3	4	151	1	0	0	0	0	1	0	0	0	2708	710	25	3	2134	3	CBLB	3	105459455	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	7385848	105459455	92562975	51	38416											
HEG1	57493	genome.wustl.edu	37	chr3	124731486	124731487	+	Frame_Shift_Del	DEL	TG	TG	-																															cctgaggctgaagaggacacTgttgttggtgactgtgtgct																										TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:124731486_124731487delTG	ENST00000311127.4	-	6	3003_3004	c.2936_2937delCA	c.(2935-2937)acafs	p.T979fs	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	979					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						AAGAGGACACTGTTGTTGGTGA	0.52																																																	0																																										SO:0001589	frameshift_variant	0			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.2936_2937delCA	3.37:g.124731486_124731487delTG	ENSP00000311502:p.Thr979fs		Q6NX66|Q8NC40|Q9BSV0	Frame_Shift_Del	DEL	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.T979fs	ENST00000311127.4	37	c.2937_2936	CCDS46898.1	3																																																																																			HEG1	-	NULL	ENSG00000173706		0.52	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2		0	49	0	TG	XM_087386		124731487	-1	tier1		no_errors	ENST00000311127	ensembl	human	known	74_37	frame_shift_del	11.29	55	7	DEL	0.000:0.000	-	-	124731487	TG	-	124731486	7	5	151	1	0	1	0	1	0	0	0	0	7071	1567	55	0	1256	0	HEG1	3	124731486	Frame_Shift_Del	DEL	TG	TCGA-R6-A8WG-01A-11D-A37C-09	19272031	124731486	73290944	52	38417											
PLXNA1	5361	genome.wustl.edu	37	chr3	126749109	126749109	+	Silent	SNP	C	C	T	0	0	0	1	1	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	acactgcagaagtttgtggaCgacctgtttgagaccatctt	10	12	10	9	1	1	2	0	1	1	2	1	5	1	3	2	1	1	3	2	1	1	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:126749109C>T	ENST00000393409.2	+	28	5085	c.5085C>T	c.(5083-5085)gaC>gaT	p.D1695D	PLXNA1_ENST00000251772.4_Silent_p.D1672D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1695					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)		AGTTTGTGGACGACCTGTTTG	0.632																																																	0													102	96	98					3																	126749109		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5085C>T	3.37:g.126749109C>T				Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.D1695	ENST00000393409.2	37	c.5085	CCDS33847.2	3																																																																																			PLXNA1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000114554		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	-	0	24	0	C	NM_032242		126749109	1	tier1	-	no_errors	ENST00000393409	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.994	T	T	126749109	C	T	126749109	2	4	151	1	0	0	0	0	0	0	0	1	12158	535	19	1		1	PLXNA1	3	126749109	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	2017623	126749109	71273321	53	38418											
CPNE4	131034	genome.wustl.edu	37	chr3	131254166	131254166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctctttgccagggcagctGgagatgcctgcagggaagaa	9	7	15	10	1	1	2	0	0	1	2	1	4	1	3	2	3	4	4	2	3	2	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:131254166G>T	ENST00000512055.1	-	20	3673	c.1547C>A	c.(1546-1548)cCa>cAa	p.P516Q	CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000502818.1_Missense_Mutation_p.P534Q|CPNE4_ENST00000429747.1_Missense_Mutation_p.P516Q|CPNE4_ENST00000512332.1_Missense_Mutation_p.P534Q|CPNE4_ENST00000511604.1_Missense_Mutation_p.P516Q			Q96A23	CPNE4_HUMAN	copine IV	516						extracellular vesicular exosome (GO:0070062)		p.P516L(1)		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						CAGGGCAGCTGGAGATGCCTG	0.453																																																	1	Substitution - Missense(1)	lung(1)											101	95	97					3																	131254166		2203	4300	6503	SO:0001583	missense	0			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.1547C>A	3.37:g.131254166G>T	ENSP00000421705:p.Pro516Gln		D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.P534Q	ENST00000512055.1	37	c.1601	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066827	0.55539	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.54479	0.58;0.58;0.57;0.58;0.57	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.64616	0.2614	L	0.41573	1.285	0.80722	D	1	D;D	0.65815	0.995;0.988	D;P	0.73380	0.98;0.873	T	0.58945	-0.7546	10	0.25751	T	0.34	-11.6104	18.8677	0.92300	0.0:0.0:1.0:0.0	.	534;516	Q96A23-2;Q96A23	.;CPNE4_HUMAN	Q	516;516;534;516;534	ENSP00000421705:P516Q;ENSP00000411904:P516Q;ENSP00000424853:P534Q;ENSP00000423811:P516Q;ENSP00000421646:P534Q	ENSP00000411904:P516Q	P	-	2	0	CPNE4	132736856	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.540000	0.82074	2.460000	0.83146	0.557000	0.71058	CCA	CPNE4	-	NULL	ENSG00000196353		0.453	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4		0	44	0	G	NM_130808		131254166	-1			no_errors	ENST00000502818	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	131254166	G	T	131254166	3	4	151	1	0	0	0	0	1	0	0	0	3821	1348	47	3	130	3	CPNE4	3	131254166	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	4505057	131254166	66768264	54	38419											
TRIM42	287015	genome.wustl.edu	37	chr3	140397334	140397334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccagcagcaatctcaactGctactactatgagagccgct	12	8	8	13	1	1	1	1	1	1	1	2	2	1	1	2	0	8	4	2	0	5	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:140397334G>T	ENST00000286349.3	+	1	454	c.263G>T	c.(262-264)tGc>tTc	p.C88F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	88	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						AATCTCAACTGCTACTACTAT	0.547																																																	0													63	55	57					3																	140397334		2203	4300	6503	SO:0001583	missense	0			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.263G>T	3.37:g.140397334G>T	ENSP00000286349:p.Cys88Phe		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.C88F	ENST00000286349.3	37	c.263	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	8.833	0.940419	0.18281	.	.	ENSG00000155890	ENST00000286349	T	0.16897	2.31	5.15	4.27	0.50696	.	0.099160	0.44902	D	0.000405	T	0.20700	0.0498	N	0.14661	0.345	0.37827	D	0.928581	D	0.65815	0.995	P	0.60886	0.88	T	0.13656	-1.0501	10	0.72032	D	0.01	-37.3557	11.3219	0.49428	0.0:0.0:0.8178:0.1822	.	88	Q8IWZ5	TRI42_HUMAN	F	88	ENSP00000286349:C88F	ENSP00000286349:C88F	C	+	2	0	TRIM42	141880024	1.000000	0.71417	0.987000	0.45799	0.317000	0.28152	5.577000	0.67444	1.286000	0.44565	-0.181000	0.13052	TGC	TRIM42	-	NULL	ENSG00000155890		0.547	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2		0	25	0	G	NM_152616		140397334	1			no_errors	ENST00000286349	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.996	T	T	140397334	G	T	140397334	3	4	151	1	0	0	0	0	1	0	0	0	16565	1319	46	3	265	3	TRIM42	3	140397334	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	9143168	140397334	57625096	55	38420											
SI	6476	genome.wustl.edu	37	chr3	164730810	164730810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagttttatctattgttatGttgggcaaatctggccaaac	11	15	9	6	0	2	1	0	0	2	1	2	1	2	1	1	2	1	4	1	2	5	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:164730810G>T	ENST00000264382.3	-	34	4082	c.4020C>A	c.(4018-4020)aaC>aaA	p.N1340K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1340	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTATTGTTATGTTGGGCAAAT	0.348										HNSCC(35;0.089)																																							0													123	121	122					3																	164730810		2203	4300	6503	SO:0001583	missense	0			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.4020C>A	3.37:g.164730810G>T	ENSP00000264382:p.Asn1340Lys		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.N1340K	ENST00000264382.3	37	c.4020	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541716	0.27563	.	.	ENSG00000090402	ENST00000264382	D	0.88818	-2.43	4.54	-2.46	0.06461	Glycoside hydrolase, superfamily (1);	0.168162	0.52532	N	0.000076	D	0.91600	0.7346	M	0.80183	2.485	0.41796	D	0.989893	D	0.69078	0.997	D	0.70487	0.969	D	0.87836	0.2648	10	0.72032	D	0.01	.	5.8385	0.18621	0.5726:0.1301:0.2973:0.0	.	1340	P14410	SUIS_HUMAN	K	1340	ENSP00000264382:N1340K	ENSP00000264382:N1340K	N	-	3	2	SI	166213504	0.391000	0.25221	0.023000	0.16930	0.213000	0.24496	0.883000	0.28200	-0.639000	0.05502	-2.593000	0.00164	AAC	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	37	0	G	NM_001041		164730810	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.855	T	T	164730810	G	T	164730810	3	4	151	1	0	0	0	0	1	0	0	0	14342	1368	48	3	1523	3	SI	3	164730810	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	24333476	164730810	33291620	56	38421											
USP13	8975	genome.wustl.edu	37	chr3	179474859	179474859	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcgcctgatgaaccaattGatagaccgtatgtatcttta	12	13	8	8	2	1	4	0	3	1	1	2	5	1	4	3	0	1	2	3	0	6	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:179474859G>A	ENST00000263966.3	+	16	2412	c.1941G>A	c.(1939-1941)ttG>ttA	p.L647L	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Silent_p.L582L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	647	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TGAACCAATTGATAGACCGTA	0.363																																																	0													265	259	261					3																	179474859		2203	4300	6503	SO:0001819	synonymous_variant	0			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1941G>A	3.37:g.179474859G>A			A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.L647	ENST00000263966.3	37	c.1941	CCDS3235.1	3																																																																																			USP13	-	pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67	ENSG00000058056		0.363	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	HGNC	protein_coding	OTTHUMT00000349617.1	-	0	127	0	G			179474859	1	tier1	-	no_errors	ENST00000263966	ensembl	human	known	74_37	silent	45.52	79	66	SNP	0.604	A	A	179474859	G	A	179474859	2	1	151	1	0	0	0	0	0	0	0	1	17093	1281	45	3		3	USP13	3	179474859	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	14744049	179474859	18547571	57	38422											
ABCC5	10057	genome.wustl.edu	37	chr3	183665256	183665257	+	Frame_Shift_Ins	INS	-	-	A																															accgcatcgcacacgtaaacINSaaaaaaaaaggagcttggtt																								rs374387850		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:183665256_183665257insA	ENST00000334444.6	-	23	3509_3510	c.3269_3270insT	c.(3268-3270)ttgfs	p.L1090fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.L1047fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1090	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)	CACACGTAAACAAAAAAAAAGG	0.53																																																	0																																										SO:0001589	frameshift_variant	0			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.3270dupT	3.37:g.183665265_183665265dupA	ENSP00000333926:p.Leu1090fs		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L1090fs	ENST00000334444.6	37	c.3270_3269	CCDS43176.1	3																																																																																			ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000114770		0.53	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1		0	29	0	-	NM_005688		183665257	-1	tier1		no_errors	ENST00000334444	ensembl	human	known	74_37	frame_shift_ins	19.05	17	4	INS	1.000:1.000	A	A	183665257	-	A	183665256	7	5	151	1	0	1	1	0	0	0	0	0	56	477	17	0	1075	0	ABCC5	3	183665256	Frame_Shift_Ins	INS	-	TCGA-R6-A8WG-01A-11D-A37C-09	4190397	183665256	14357174	58	38423											
S100P	6286	genome.wustl.edu	37	chr4	6695679	6695679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgacggaactagagacagCcatgggcatgatcatagacg	14	6	12	9	2	1	4	1	2	0	2	1	6	1	5	1	2	2	1	1	2	3	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:6695679C>A	ENST00000296370.3	+	1	884	c.20C>A	c.(19-21)gCc>gAc	p.A7D	S100P_ENST00000513778.1_Intron|AC093323.1_ENST00000596858.1_5'Flank	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	7					endothelial cell migration (GO:0043542)|response to organic substance (GO:0010033)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|magnesium ion binding (GO:0000287)			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicic acid(DB01003)	CTAGAGACAGCCATGGGCATG	0.577																																																	0													73	64	67					4																	6695679		2203	4300	6503	SO:0001583	missense	0			X65614	CCDS3391.1	4p16	2013-01-10	2001-11-28		ENSG00000163993	ENSG00000163993		"S100 calcium binding proteins", "EF-hand domain containing"	10504	protein-coding gene	gene with protein product		600614	"S100 calcium-binding protein P"			8341667, 7759097	Standard	NM_005980		Approved		uc003gjl.3	P25815	OTTHUMG00000090491	ENST00000296370.3:c.20C>A	4.37:g.6695679C>A	ENSP00000296370:p.Ala7Asp		Q5J7W2	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom	p.A7D	ENST00000296370.3	37	c.20	CCDS3391.1	4	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017276	0.54576	.	.	ENSG00000163993	ENST00000296370	T	0.15139	2.45	4.23	4.23	0.50019	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.000000	0.53938	D	0.000057	T	0.40645	0.1125	.	.	.	0.46542	D	0.999091	D	0.76494	0.999	D	0.72338	0.977	T	0.32052	-0.9921	9	0.54805	T	0.06	.	14.1049	0.65083	0.0:1.0:0.0:0.0	.	7	P25815	S100P_HUMAN	D	7	ENSP00000296370:A7D	ENSP00000296370:A7D	A	+	2	0	S100P	6746580	1.000000	0.71417	0.381000	0.26106	0.038000	0.13279	2.310000	0.43708	2.202000	0.70862	0.650000	0.86243	GCC	S100P	-	pfam_S100_Ca-bd_sub	ENSG00000163993		0.577	S100P-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100P	HGNC	protein_coding	OTTHUMT00000206979.1		0	52	0	C	NM_005980		6695679	1			no_errors	ENST00000296370	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	6695679	C	A	6695679	3	1	151	1	0	0	0	0	1	0	0	0	13835	739	26	3	22	3	S100P	4	6695679	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09		6695679	184458597	59	38424											
GRXCR1	389207	genome.wustl.edu	37	chr4	43022413	43022413	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgaatcaggagaactgCaagacatcctaaccaaaatt	18	8	7	8	0	1	4	1	2	0	2	2	5	2	4	2	1	3	1	2	1	7	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:43022413C>T	ENST00000399770.2	+	3	670	c.670C>T	c.(670-672)Caa>Taa	p.Q224*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	224	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.Q224K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGGAGAACTGCAAGACATCCT	0.303																																																	1	Substitution - Missense(1)	kidney(1)											84	81	82					4																	43022413		1840	4078	5918	SO:0001587	stop_gained	0				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.670C>T	4.37:g.43022413C>T	ENSP00000382670:p.Gln224*			Nonsense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.Q224*	ENST00000399770.2	37	c.670	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.325030	0.95708	.	.	ENSG00000215203	ENST00000399770	.	.	.	5.79	5.79	0.91817	.	0.081744	0.49916	U	0.000125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-10.0115	19.0179	0.92901	0.0:1.0:0.0:0.0	.	.	.	.	X	224	.	ENSP00000382670:Q224X	Q	+	1	0	GRXCR1	42717170	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.435000	0.80391	2.741000	0.93983	0.484000	0.47621	CAA	GRXCR1	-	superfamily_Thioredoxin-like_fold	ENSG00000215203		0.303	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1		0	73	0	C	NM_001080476		43022413	1			no_errors	ENST00000399770	ensembl	human	known	74_37	nonsense	6.12	45	3	SNP	1.000	T	T	43022413	C	T	43022413	4	4	151	1	0	0	0	0	0	1	0	0	6839	711	25	3	680	3	GRXCR1	4	43022413	Nonsense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	36326734	43022413	148131863	60	38425											
ATP10D	57205	genome.wustl.edu	37	chr4	47514680	47514680	+	Silent	SNP	T	T	C	0	1	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	gcctgtgggcgcaagtcctcTcagacccctaaactgtcagg	8	8	11	14	1	2	1	2	0	1	1	4	1	3	1	4	2	1	1	4	2	3	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:47514680T>C	ENST00000273859.3	+	2	392	c.123T>C	c.(121-123)tcT>tcC	p.S41S	ATP10D_ENST00000504445.1_Silent_p.S41S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	41					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						GCAAGTCCTCTCAGACCCCTA	0.532																																																	0													94	89	91					4																	47514680		2203	4300	6503	SO:0001819	synonymous_variant	0			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.123T>C	4.37:g.47514680T>C			A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.S41	ENST00000273859.3	37	c.123	CCDS3476.1	4																																																																																			ATP10D	-	NULL	ENSG00000145246		0.532	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	-	0	52	0	T	NM_020453		47514680	1	tier1	-	no_errors	ENST00000273859	ensembl	human	known	74_37	silent	50.00	19	19	SNP	0.000	C	C	47514680	T	C	47514680	2	2	151	1	0	0	0	0	0	0	0	1	1119	1538	54	4		4	ATP10D	4	47514680	Silent	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	4492267	47514680	143639596	61	38426											
ENPEP	2028	genome.wustl.edu	37	chr4	111431406	111431406	+	Silent	SNP	T	T	C	0	1	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	tgcttataatttcagtggttTggaaatattgtgaccatgga	11	16	10	4	0	1	1	1	1	0	0	1	3	1	3	1	3	1	2	1	3	4	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:111431406T>C	ENST00000265162.5	+	6	1542	c.1200T>C	c.(1198-1200)ttT>ttC	p.F400F	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	400					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)		TTCAGTGGTTTGGAAATATTG	0.373																																																	0													194	195	195					4																	111431406		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1200T>C	4.37:g.111431406T>C			Q504U2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.F400	ENST00000265162.5	37	c.1200	CCDS3691.1	4																																																																																			ENPEP	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000138792		0.373	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	-	0	103	0	T			111431406	1	tier1	-	no_errors	ENST00000265162	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	C	C	111431406	T	C	111431406	2	2	151	1	0	0	0	0	0	0	0	1	5144	1809	63	4		4	ENPEP	4	111431406	Silent	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	63916726	111431406	79722870	62	38427											
ODZ3	55714	genome.wustl.edu	37	chr4	183721070	183721070	+	Frame_Shift_Del	DEL	G	G	-																															tcatcaagaccaccacgcccGagagcgacctgggcacgctg																										TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:183721070delG	ENST00000511685.1	+	28	7789	c.7666delG	c.(7666-7668)gagfs	p.E2556fs	TENM3_ENST00000406950.2_Frame_Shift_Del_p.E2556fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2556					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)										CACCACGCCCGAGAGCGACCT	0.632																																																	0													31	36	34					4																	183721070		2181	4269	6450	SO:0001589	frameshift_variant	0			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.7666delG	4.37:g.183721070delG	ENSP00000424226:p.Glu2556fs		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Del	DEL	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E2556fs	ENST00000511685.1	37	c.7666	CCDS47165.1	4																																																																																			TENM3	-	NULL	ENSG00000218336		0.632	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1		0	17	0	G			183721070	1	tier1		no_errors	ENST00000406950	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	1.000	-	-	183721070	G	-	183721070	7	5	151	1	0	1	0	1	0	0	0	0	10875	1059	37	0	7772	0	ODZ3	4	183721070	Frame_Shift_Del	DEL	G	TCGA-R6-A8WG-01A-11D-A37C-09	72289664	183721070	7433206	63	38428											
C5orf49	134121	genome.wustl.edu	37	chr5	7835549	7835549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttctctgtcatctcggtgCaacttctgatcataatctag	8	16	7	10	1	6	1	2	1	4	0	8	1	6	1	0	1	2	2	0	1	3	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:7835549C>T	ENST00000399810.2	-	2	678	c.210G>A	c.(208-210)ttG>ttA	p.L70L	C5orf49_ENST00000509627.1_Silent_p.L70L	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	70										large_intestine(3)|lung(5)|skin(1)	9						CATCTCGGTGCAACTTCTGAT	0.348																																																	0													134	128	130					5																	7835549		1825	4085	5910	SO:0001819	synonymous_variant	0				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.210G>A	5.37:g.7835549C>T				Silent	SNP	NULL	p.L70	ENST00000399810.2	37	c.210	CCDS43300.1	5																																																																																			C5orf49	-	NULL	ENSG00000215217		0.348	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf49	HGNC	protein_coding	OTTHUMT00000366322.1		0	38	0	C	NM_001089584		7835549	-1			no_errors	ENST00000399810	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.989	T	T	7835549	C	T	7835549	2	4	151	1	0	0	0	0	0	0	0	1	2314	709	25	3		3	C5orf49	5	7835549	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09		7835549	173079711	64	38429											
PTCD2	79810	genome.wustl.edu	37	chr5	71616208	71616208	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgccccggttccagtagttgGtatggtccgagacagtatgg	7	10	14	10	3	0	1	0	0	0	1	2	2	2	1	4	4	0	5	4	4	3	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:71616208G>T	ENST00000380639.5	+	0	15				MRPS27_ENST00000513900.1_5'Flank|PTCD2_ENST00000543322.1_5'UTR|MRPS27_ENST00000261413.5_5'Flank|MRPS27_ENST00000522095.1_5'Flank|PTCD2_ENST00000536805.1_5'Flank|MRPS27_ENST00000515404.1_5'Flank|MRPS27_ENST00000457646.4_5'Flank|PTCD2_ENST00000503868.1_5'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2						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)		CCAGTAGTTGGTATGGTCCGA	0.617																																																	0													49	57	54					5																	71616208		2198	4293	6491	SO:0001623	5_prime_UTR_variant	0			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.-2G>T	5.37:g.71616208G>T			B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	RNA	SNP	-	NULL	ENST00000380639.5	37	NULL	CCDS4014.2	5																																																																																			MRPS27	-	-	ENSG00000113048		0.617	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS27	HGNC	protein_coding	OTTHUMT00000218562.6	-	0	52	0	G	NM_024754		71616208	-1	tier1	-	no_errors	ENST00000506957	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.049	T	T	71616208	G	T	71616208	1	4	151	0	1	0	0	0	0	0	0	0	12770	1276	44	3		3	PTCD2	5	71616208	5'UTR	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	63780659	71616208	109299052	65	38430											
VCAN	1462	genome.wustl.edu	37	chr5	82815321	82815321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacagagttccctcccgtggGaaatattgtcagttttgaac	11	12	9	9	1	1	2	1	1	0	1	3	3	3	3	2	1	2	2	2	1	4	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:82815321G>T	ENST00000265077.3	+	7	1761	c.1196G>T	c.(1195-1197)gGa>gTa	p.G399V	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G399V|VCAN_ENST00000512590.2_Missense_Mutation_p.G351V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	399	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)	CCTCCCGTGGGAAATATTGTC	0.423																																																	0													119	119	119					5																	82815321		2203	4300	6503	SO:0001583	missense	0			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.1196G>T	5.37:g.82815321G>T	ENSP00000265077:p.Gly399Val		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.G399V	ENST00000265077.3	37	c.1196	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325060	0.41197	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86627	-2.05;-2.12;-2.15	5.92	4.13	0.48395	.	0.102260	0.43579	D	0.000543	D	0.89114	0.6623	M	0.64997	1.995	0.52501	D	0.999955	P;D	0.64830	0.899;0.994	P;P	0.58780	0.475;0.845	D	0.85660	0.1288	10	0.23891	T	0.37	.	10.2383	0.43297	0.0731:0.1432:0.7837:0.0	.	399;399	P13611-3;P13611	.;CSPG2_HUMAN	V	399;399;351	ENSP00000265077:G399V;ENSP00000342768:G399V;ENSP00000425959:G351V	ENSP00000265077:G399V	G	+	2	0	VCAN	82851077	1.000000	0.71417	0.962000	0.40283	0.385000	0.30292	1.334000	0.33827	0.816000	0.34421	0.655000	0.94253	GGA	VCAN	-	NULL	ENSG00000038427		0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3		0	30	0	G	NM_004385		82815321	1			no_errors	ENST00000265077	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.973	T	T	82815321	G	T	82815321	3	4	151	1	0	0	0	0	1	0	0	0	17187	1174	41	3	1218	3	VCAN	5	82815321	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	11199113	82815321	98099939	66	38431											
APC	324	genome.wustl.edu	37	chr5	112177178	112177178	+	Frame_Shift_Del	DEL	T	T	-																															ttgaaaatactccggtttgcTtttctcataattcctctctg																										TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:112177178delT	ENST00000457016.1	+	16	6267	c.5887delT	c.(5887-5889)tttfs	p.F1963fs	APC_ENST00000508376.2_Frame_Shift_Del_p.F1963fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.F1963fs			P25054	APC_HUMAN	adenomatous polyposis coli	1963	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)		TCCGGTTTGCTTTTCTCATAA	0.403		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)											64	62	63					5																	112177178		2202	4299	6501	SO:0001589	frameshift_variant	0	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.5887delT	5.37:g.112177178delT	ENSP00000413133:p.Phe1963fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S1964fs	ENST00000457016.1	37	c.5887	CCDS4107.1	5																																																																																			APC	-	pfam_APC_Cys-rich_rpt	ENSG00000134982		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	48	0	T	NM_000038		112177178	1	tier1		no_errors	ENST00000257430	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-	-	112177178	T	-	112177178	7	5	151	1	0	1	0	1	0	0	0	0	763	1609	56	0	5945	0	APC	5	112177178	Frame_Shift_Del	DEL	T	TCGA-R6-A8WG-01A-11D-A37C-09	29361857	112177178	68738082	67	38432											
ADAMTS19	171019	genome.wustl.edu	37	chr5	129015552	129015552	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactaccgttcattatgtaAgacgaggcctctgggagaag	12	9	12	8	2	2	2	1	0	1	2	2	5	2	2	2	2	2	2	2	2	5	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:129015552A>C	ENST00000274487.4	+	17	2729	c.2584A>C	c.(2584-2586)Aga>Cga	p.R862R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	862	Spacer.					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)		TCATTATGTAAGACGAGGCCT	0.433																																																	0													102	100	101					5																	129015552		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2584A>C	5.37:g.129015552A>C				Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R862	ENST00000274487.4	37	c.2584	CCDS4146.1	5																																																																																			ADAMTS19	-	pfam_ADAM_spacer1	ENSG00000145808		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0	64	0	A	NM_133638		129015552	1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	silent	50.00	19	19	SNP	0.998	C	C	129015552	A	C	129015552	2	2	151	1	0	0	0	0	0	0	0	1	264	64	3	4		4	ADAMTS19	5	129015552	Silent	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	16838374	129015552	51899708	68	38433											
PCDHB7	56129	genome.wustl.edu	37	chr5	140552823	140552823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccagtatttctagacaGagagatttccttgaaaatat	13	13	7	8	1	1	4	0	1	1	3	3	5	3	4	2	0	0	2	2	0	5	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:140552823G>T	ENST00000231137.3	+	1	581	c.407G>T	c.(406-408)aGa>aTa	p.R136I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	136					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)			TTTCTAGACAGAGAGATTTCC	0.438																																																	0													57	62	61					5																	140552823		2203	4300	6503	SO:0001583	missense	0			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.407G>T	5.37:g.140552823G>T	ENSP00000231137:p.Arg136Ile		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R136I	ENST00000231137.3	37	c.407	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	G	5.821	0.335789	0.11013	.	.	ENSG00000113212	ENST00000231137	T	0.20069	2.1	4.61	-5.24	0.02789	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.18509	0.0444	L	0.58354	1.805	0.09310	N	1	B	0.33549	0.417	B	0.33392	0.163	T	0.29852	-0.9998	9	0.66056	D	0.02	.	8.8806	0.35372	0.6344:0.2399:0.1257:0.0	.	136	Q9Y5E2	PCDB7_HUMAN	I	136	ENSP00000231137:R136I	ENSP00000231137:R136I	R	+	2	0	PCDHB7	140533007	0.000000	0.05858	0.094000	0.20943	0.218000	0.24690	-1.108000	0.03313	-0.772000	0.04602	-0.211000	0.12701	AGA	PCDHB7	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000113212		0.438	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	-	0	50	0	G	NM_018940		140552823	1	tier1	-	no_errors	ENST00000231137	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.000	T	T	140552823	G	T	140552823	3	4	151	1	0	0	0	0	1	0	0	0	11586	942	33	3	409	3	PCDHB7	5	140552823	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	11537271	140552823	40362437	69	38434											
PCDHB12	56124	genome.wustl.edu	37	chr5	140589508	140589508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggatgtaaacgacaaCgctcctgaaatcactgtgtc	12	10	10	9	2	1	2	1	2	0	0	3	4	2	3	1	1	2	2	1	1	4	1	rs377624441		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:140589508C>T	ENST00000239450.2	+	1	1218	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	PCDHB12_ENST00000541609.1_Silent_p.N6N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	343	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)	p.N343N(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAACGACAACGCTCCTGAAA	0.433																																																	1	Substitution - coding silent(1)	lung(1)						T		1,4403	825.2+/-416.5	0,1,2201	83	83	83		1029	1.6	0.8	5		83	0,8600		0,0,4300	no	coding-synonymous	PCDHB12	NM_018932.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		343/796	140589508	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1029C>T	5.37:g.140589508C>T			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N343	ENST00000239450.2	37	c.1029	CCDS4254.1	5																																																																																			PCDHB12	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120328		0.433	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	-	0	74	0	C	NM_018932		140589508	1	tier1	-	no_errors	ENST00000239450	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.641	T	T	140589508	C	T	140589508	2	4	151	1	0	0	0	0	0	0	0	1	11576	535	19	1		1	PCDHB12	5	140589508	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	36685	140589508	40325752	70	38435											
RBM27	54439	genome.wustl.edu	37	chr5	145641103	145641103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgacccagaagcagccCtaatccaatatcttaccaat	14	8	7	12	0	1	2	0	1	1	1	2	2	2	2	4	1	3	1	4	1	6	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:145641103C>A	ENST00000265271.5	+	13	2090	c.1924C>A	c.(1924-1926)Cta>Ata	p.L642I	RBM27_ENST00000506502.1_Missense_Mutation_p.L587I	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	642	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			AGAAGCAGCCCTAATCCAATA	0.378																																																	0													106	96	99					5																	145641103		1568	3582	5150	SO:0001583	missense	0			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.1924C>A	5.37:g.145641103C>A	ENSP00000265271:p.Leu642Ile		Q8IYW9	Missense_Mutation	SNP	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.L642I	ENST00000265271.5	37	c.1924	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563931	0.65651	.	.	ENSG00000091009	ENST00000265271	T	0.56103	0.48	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.64402	D	0.000004	T	0.69160	0.3080	L	0.53249	1.67	0.58432	D	0.999993	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	T	0.65302	-0.6201	10	0.35671	T	0.21	-7.0717	19.3994	0.94621	0.0:1.0:0.0:0.0	.	642;587	Q9P2N5;B3KY61	RBM27_HUMAN;.	I	642	ENSP00000265271:L642I	ENSP00000265271:L642I	L	+	1	2	RBM27	145621296	0.996000	0.38824	1.000000	0.80357	0.986000	0.74619	3.344000	0.52174	2.593000	0.87608	0.561000	0.74099	CTA	RBM27	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000091009		0.378	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	-	0	69	0	C	XM_291128		145641103	1	tier1	-	no_errors	ENST00000265271	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	A	A	145641103	C	A	145641103	3	1	151	1	0	0	0	0	1	0	0	0	13172	680	24	3	1974	3	RBM27	5	145641103	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	5051595	145641103	35274157	71	38436											
FAT2	2196	genome.wustl.edu	37	chr5	150947209	150947209	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gttctgatgtgtagctgataGtgggctctgtcgtggaagtc	6	14	15	6	1	2	2	0	2	2	0	4	3	2	3	0	2	1	4	0	2	3	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:150947209G>T	ENST00000261800.5	-	1	1296	c.1284C>A	c.(1282-1284)caC>caA	p.H428Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	428	Cadherin 3. {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)			GTAGCTGATAGTGGGCTCTGT	0.498																																																	0													130	123	125					5																	150947209		2203	4300	6503	SO:0001583	missense	0			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.1284C>A	5.37:g.150947209G>T	ENSP00000261800:p.His428Gln		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.H428Q	ENST00000261800.5	37	c.1284	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	4.664	0.123506	0.08931	.	.	ENSG00000086570	ENST00000261800	T	0.60171	0.21	5.59	-0.222	0.13122	Cadherin (3);Cadherin-like (1);	0.768996	0.11984	N	0.510480	T	0.25269	0.0614	N	0.03177	-0.4	0.19575	N	0.999969	B	0.10296	0.003	B	0.04013	0.001	T	0.19844	-1.0293	10	0.12766	T	0.61	.	4.1118	0.10062	0.1249:0.1939:0.4859:0.1953	.	428	Q9NYQ8	FAT2_HUMAN	Q	428	ENSP00000261800:H428Q	ENSP00000261800:H428Q	H	-	3	2	FAT2	150927402	0.965000	0.33210	0.632000	0.29296	0.972000	0.66771	0.308000	0.19314	0.021000	0.15133	0.561000	0.74099	CAC	FAT2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1		0	33	0	G	NM_001447		150947209	-1			no_errors	ENST00000261800	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.011	T	T	150947209	G	T	150947209	3	4	151	1	0	0	0	0	1	0	0	0	5712	1020	36	3	11857	3	FAT2	5	150947209	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	5306106	150947209	29968051	72	38437											
NIPAL4	348938	genome.wustl.edu	37	chr5	156899589	156899589	+	Missense_Mutation	SNP	T	T	G	0	1	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	actgtccctcagcactcaggTcaacttcctcaacagagcac	11	8	6	16	0	4	1	4	0	0	1	6	1	6	1	2	1	4	2	2	1	2	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:156899589T>G	ENST00000311946.7	+	6	1138	c.1022T>G	c.(1021-1023)gTc>gGc	p.V341G	NIPAL4_ENST00000435489.2_Missense_Mutation_p.V322G|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	341						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						AGCACTCAGGTCAACTTCCTC	0.552											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													161	158	159					5																	156899589		2082	4217	6299	SO:0001583	missense	0			AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"ichthyin"	609383	"NIPA-like 4"			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1022T>G	5.37:g.156899589T>G	ENSP00000311687:p.Val341Gly	1782	A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.V341G	ENST00000311946.7	37	c.1022	CCDS47328.1	5	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782772	0.90282	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.91686	-2.89;-2.89	6.04	6.04	0.98038	.	0.106353	0.64402	D	0.000006	D	0.95974	0.8689	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.984;0.99	D	0.96333	0.9245	10	0.87932	D	0	-11.3532	16.5763	0.84648	0.0:0.0:0.0:1.0	.	322;341	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	G	322;341	ENSP00000406456:V322G;ENSP00000311687:V341G	ENSP00000311687:V341G	V	+	2	0	NIPAL4	156832167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	GTC	NIPAL4	-	pfam_Mg_trans_NIPA	ENSG00000172548		0.552	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL4	HGNC	protein_coding	OTTHUMT00000373789.1	-	0	54	0	T	NM_001099287		156899589	1	tier1	-	no_errors	ENST00000311946	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	G	G	156899589	T	G	156899589	3	3	151	1	0	0	0	0	1	0	0	0	10466	1667	58	4	1044	4	NIPAL4	5	156899589	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	5952380	156899589	24015671	73	38438											
ACOT13	55856	genome.wustl.edu	37	chr6	24687916	24687916	+	Intron	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaagaagacagaaatggttAgaaaggtaagaatagaattt	21	9	10	1	0	0	6	0	0	0	6	0	6	0	6	0	2	0	2	0	2	10	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:24687916A>T	ENST00000230048.4	+	2	274				ACOT13_ENST00000476436.1_3'UTR|ACOT13_ENST00000537591.1_Nonsense_Mutation_p.R3*	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13						metabolic process (GO:0008152)|protein homotetramerization (GO:0051289)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA hydrolase activity (GO:0047617)			large_intestine(1)	1						AGAAATGGTTAGAAAGGTAAG	0.368																																																	0													160	148	152					6																	24687916		692	1591	2283	SO:0001627	intron_variant	0			AF220186	CCDS4558.1, CCDS54972.1	6p22.1	2009-11-20	2009-05-05	2009-05-05	ENSG00000112304	ENSG00000112304		"Acyl CoA thioesterases"	20999	protein-coding gene	gene with protein product		615652	"thioesterase superfamily member 2"	THEM2		16934754, 19405909	Standard	NM_018473		Approved	HT012	uc003nek.3	Q9NPJ3	OTTHUMG00000014359	ENST00000230048.4:c.82-10195A>T	6.37:g.24687916A>T			F5H2L4|O95549	Nonsense_Mutation	SNP	pfam_Thioestr_supf,tigrfam_PAAI_dom	p.R3*	ENST00000230048.4	37	c.7	CCDS4558.1	6	.	.	.	.	.	.	.	.	.	.	A	40	8.464113	0.98822	.	.	ENSG00000112304	ENST00000537591	.	.	.	1.06	1.06	0.20224	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	4.3256	0.11038	1.0:0.0:0.0:0.0	.	.	.	.	X	3	.	ENSP00000445552:R3X	R	+	1	2	ACOT13	24795895	0.995000	0.38212	0.584000	0.28653	0.627000	0.37826	1.335000	0.33839	0.729000	0.32403	0.358000	0.22013	AGA	ACOT13	-	NULL	ENSG00000112304		0.368	ACOT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT13	HGNC	protein_coding	OTTHUMT00000040010.2		0	36	0	A	NM_018473		24687916	1			no_errors	ENST00000537591	ensembl	human	known	74_37	nonsense	12.00	22	3	SNP	0.761	T	T	24687916	A	T	24687916	1	4	151	0	1	0	0	0	0	0	0	0	151	412	15	5		5	ACOT13	6	24687916	Intron	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09		24687916	146427151	74	38439											
ZNF193	7746	genome.wustl.edu	37	chr6	28195038	28195038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggcactttcgacagctgtGctaccaagagacccctggac	11	7	10	13	1	0	1	0	0	0	1	1	4	0	2	3	2	3	3	3	2	3	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:28195038G>T	ENST00000252207.5	+	2	324	c.176G>T	c.(175-177)tGc>tTc	p.C59F	ZSCAN9_ENST00000531981.1_Missense_Mutation_p.C59F|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.C59F|ZSCAN9_ENST00000527436.1_Missense_Mutation_p.C59F|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.C59F	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	59	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)										CGACAGCTGTGCTACCAAGAG	0.502																																																	0													76	71	72					6																	28195038		2203	4300	6503	SO:0001583	missense	0			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"-", "Zinc fingers, C2H2-type"	12984	protein-coding gene	gene with protein product		602246	"zinc finger protein 193"	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.176G>T	6.37:g.28195038G>T	ENSP00000252207:p.Cys59Phe		B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.C59F	ENST00000252207.5	37	c.176	CCDS4646.1	6	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438755	0.43326	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527436;ENST00000527844	T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64	3.07	2.18	0.27775	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.11665	0.0284	H	0.95114	3.625	0.27494	N	0.952191	D;D	0.65815	0.995;0.995	D;D	0.78314	0.991;0.96	T	0.35375	-0.9791	9	0.10111	T	0.7	.	8.1308	0.31027	0.0:0.2494:0.7506:0.0	.	59;59	E7EVQ2;O15535	.;ZN193_HUMAN	F	59	ENSP00000404074:C59F;ENSP00000252207:C59F;ENSP00000433402:C59F;ENSP00000433468:C59F;ENSP00000436166:C59F	ENSP00000252207:C59F	C	+	2	0	ZNF193	28303017	0.362000	0.24980	0.822000	0.32727	0.778000	0.44026	3.119000	0.50422	0.825000	0.34637	0.561000	0.74099	TGC	ZSCAN9	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000137185		0.502	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZSCAN9	HGNC	protein_coding	OTTHUMT00000040183.2	-	0	38	0	G	NM_006299		28195038	1	tier1	-	no_errors	ENST00000252207	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.854	T	T	28195038	G	T	28195038	3	4	151	1	0	0	0	0	1	0	0	0	17805	1319	46	3	178	3	ZNF193	6	28195038	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	3507122	28195038	142920029	75	38440											
MICB	4277	genome.wustl.edu	37	chr6	31474923	31474923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaggatggggtatctttGagccacaacacccagcagtg	10	8	12	11	1	2	1	1	1	1	0	2	2	2	2	2	3	3	2	2	3	2	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:31474923G>T	ENST00000252229.6	+	4	817	c.738G>T	c.(736-738)ttG>ttT	p.L246F	MICB_ENST00000399150.3_Missense_Mutation_p.L203F|MICB_ENST00000538442.1_Missense_Mutation_p.L214F	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						GGGTATCTTTGAGCCACAACA	0.587																																																	0													54	59	57					6																	31474923		1377	2617	3994	SO:0001583	missense	0				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.738G>T	6.37:g.31474923G>T	ENSP00000252229:p.Leu246Phe			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L246F	ENST00000252229.6	37	c.738	CCDS43449.1	6	.	.	.	.	.	.	.	.	.	.	-	12.64	1.999926	0.35320	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.03181	4.02;4.02;4.02	2.46	1.55	0.23275	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.718382	0.10666	U	0.648154	T	0.07593	0.0191	M	0.78223	2.4	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.21415	-1.0246	10	0.56958	D	0.05	.	6.8597	0.24060	0.1611:0.0:0.8389:0.0	.	214;203;246	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	F	214;203;246	ENSP00000442345:L214F;ENSP00000382103:L203F;ENSP00000252229:L246F	ENSP00000252229:L246F	L	+	3	2	MICB	31582902	0.015000	0.18098	0.006000	0.13384	0.012000	0.07955	0.673000	0.25203	1.367000	0.46095	0.305000	0.20034	TTG	MICB	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000204516		0.587	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICB	HGNC	protein_coding	OTTHUMT00000076102.3		0	90	0	G	NM_005931		31474923	1			no_errors	ENST00000252229	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.004	T	T	31474923	G	T	31474923	3	4	151	1	0	0	0	0	1	0	0	0	9613	1281	45	3	752	3	MICB	6	31474923	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	3279885	31474923	139640144	76	38441											
CUL9	23113	genome.wustl.edu	37	chr6	43172752	43172752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctatgagcacttgcagagaGcaggctccgagctgtttggg	8	10	14	9	1	1	2	0	1	1	1	2	4	2	2	1	2	4	6	1	2	1	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:43172752G>A	ENST00000252050.4	+	23	4615	c.4531G>A	c.(4531-4533)Gca>Aca	p.A1511T	CUL9_ENST00000372647.2_Missense_Mutation_p.A1511T|CUL9_ENST00000354495.3_Missense_Mutation_p.A1401T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1511					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						CTTGCAGAGAGCAGGCTCCGA	0.582																																																	0													86	90	89					6																	43172752		2203	4300	6503	SO:0001583	missense	0			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.4531G>A	6.37:g.43172752G>A	ENSP00000252050:p.Ala1511Thr		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.A1511T	ENST00000252050.4	37	c.4531	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047908	0.93740	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73575	-0.76;-0.76;-0.76	5.07	5.07	0.68467	Cullin, N-terminal (1);	0.250080	0.39020	N	0.001491	T	0.79736	0.4497	M	0.61703	1.905	0.52501	D	0.999955	D;D;D	0.69078	0.997;0.994;0.994	D;D;D	0.77557	0.99;0.981;0.981	T	0.82317	-0.0517	10	0.87932	D	0	-9.0666	11.898	0.52667	0.0801:0.0:0.9199:0.0	.	1401;1511;1511	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	T	1511;1401;1511	ENSP00000252050:A1511T;ENSP00000346490:A1401T;ENSP00000361730:A1511T	ENSP00000252050:A1511T	A	+	1	0	CUL9	43280730	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.343000	0.65976	2.376000	0.81061	0.462000	0.41574	GCA	CUL9	-	pfam_Cullin_N	ENSG00000112659		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	-	0	29	0	G	NM_015089		43172752	1	tier1	-	no_errors	ENST00000252050	ensembl	human	known	74_37	missense	73.33	8	22	SNP	0.998	A	A	43172752	G	A	43172752	3	1	151	1	0	0	0	0	1	0	0	0	4070	971	34	3	4617	3	CUL9	6	43172752	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	11697829	43172752	127942315	77	38442											
SLC22A7	10864	genome.wustl.edu	37	chr6	43270152	43270152	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagactgctagtgtcctccGgtgagcccagtcccataggt	7	10	11	13	1	0	2	0	1	0	1	3	2	3	2	4	2	2	1	4	2	3	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:43270152G>T	ENST00000372585.5	+	8	1371	c.1276G>T	c.(1276-1278)Gat>Tat	p.D426Y	SLC22A7_ENST00000372589.3_Splice_Site_p.D424Y|SLC22A7_ENST00000372574.3_Splice_Site_p.D424Y	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	426					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)	AGTGTCCTCCGGTGAGCCCAG	0.672																																																	0													25	23	24					6																	43270152		2202	4297	6499	SO:0001630	splice_region_variant	0			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.1276+1G>T	6.37:g.43270152G>T			B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.D426Y	ENST00000372585.5	37	c.1276	CCDS4893.2	6	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273646	0.80580	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.27	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.536043	0.20390	N	0.093279	T	0.65544	0.2701	M	0.78223	2.4	0.80722	D	1	P;P;P	0.48350	0.909;0.889;0.889	D;P;P	0.63488	0.915;0.862;0.862	T	0.70085	-0.4969	10	0.72032	D	0.01	.	10.1751	0.42933	0.0932:0.0:0.9068:0.0	.	426;424;424	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	Y	424;426;424;119	ENSP00000361670:D424Y;ENSP00000361666:D426Y;ENSP00000361655:D424Y;ENSP00000393836:D119Y	ENSP00000361655:D424Y	D	+	1	0	SLC22A7	43378130	1.000000	0.71417	0.822000	0.32727	0.344000	0.29017	3.495000	0.53280	1.223000	0.43536	0.462000	0.41574	GAT	SLC22A7	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000137204		0.672	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	SLC22A7	HGNC	protein_coding	OTTHUMT00000040588.1		0	24	0	G		Missense_Mutation	43270152	1			no_errors	ENST00000372585	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.965	T	T	43270152	G	T	43270152	5	4	151	1	0	0	0	0	0	0	1	0	14504	1130	39	2	1302	2	SLC22A7	6	43270152	Splice_Site	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	97400	43270152	127844915	78	38443											
TDRD6	221400	genome.wustl.edu	37	chr6	46656622	46656622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagctgggcgtgacggagGccgtggtcataacccaagtg	8	7	16	10	3	1	1	1	1	0	0	1	2	1	2	2	4	3	2	2	4	2	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:46656622G>A	ENST00000316081.6	+	1	757	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.A253T	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	253					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)			CGTGACGGAGGCCGTGGTCAT	0.642																																																	0													25	22	23					6																	46656622		2200	4297	6497	SO:0001583	missense	0			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.757G>A	6.37:g.46656622G>A	ENSP00000346065:p.Ala253Thr		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.A253T	ENST00000316081.6	37	c.757	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524830	0.27299	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10099	2.91;2.91	6.07	4.28	0.50868	Maternal tudor protein (1);	0.700942	0.14851	N	0.294674	T	0.01421	0.0046	N	0.02011	-0.69	0.20563	N	0.999882	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47947	-0.9077	10	0.26408	T	0.33	-5.4964	13.348	0.60584	0.1261:0.752:0.1218:0.0	.	253;253	F5H5M3;O60522	.;TDRD6_HUMAN	T	253	ENSP00000443299:A253T;ENSP00000346065:A253T	ENSP00000346065:A253T	A	+	1	0	TDRD6	46764581	1.000000	0.71417	0.987000	0.45799	0.758000	0.43043	1.897000	0.39799	0.875000	0.35847	-0.128000	0.14901	GCC	TDRD6	-	pfam_Tudor	ENSG00000180113		0.642	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	-	0	83	0	G	XM_166443		46656622	1	tier1	-	no_errors	ENST00000316081	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.991	A	A	46656622	G	A	46656622	3	1	151	1	0	0	0	0	1	0	0	0	15781	1203	42	3	759	3	TDRD6	6	46656622	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	3386470	46656622	124458445	79	38444											
RIMS1	22999	genome.wustl.edu	37	chr6	73108016	73108016	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaagtcattagagcacgaAgcctcacacaaaagcctggt	14	7	10	10	1	2	1	2	0	0	1	2	3	2	2	2	2	3	1	2	2	5	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:73108016A>C	ENST00000521978.1	+	32	4684	c.4684A>C	c.(4684-4686)Agc>Cgc	p.S1562R	RIMS1_ENST00000401910.3_Missense_Mutation_p.S882R|RIMS1_ENST00000523963.1_Missense_Mutation_p.S687R|RIMS1_ENST00000414192.2_Missense_Mutation_p.S89R|RIMS1_ENST00000425662.2_Missense_Mutation_p.S630R|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517960.1_Missense_Mutation_p.S1345R|RIMS1_ENST00000538414.1_Missense_Mutation_p.S368R|RIMS1_ENST00000522291.1_Missense_Mutation_p.S1161R|RIMS1_ENST00000348717.5_Missense_Mutation_p.S1345R|RIMS1_ENST00000520567.1_Missense_Mutation_p.S1212R|RIMS1_ENST00000518273.1_Missense_Mutation_p.S1241R|RIMS1_ENST00000264839.7_Missense_Mutation_p.S1411R|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517827.1_Missense_Mutation_p.S696R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1562	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)				TAGAGCACGAAGCCTCACACA	0.393																																																	0													75	73	74					6																	73108016		1866	4107	5973	SO:0001583	missense	0			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.4684A>C	6.37:g.73108016A>C	ENSP00000428417:p.Ser1562Arg		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.S1562R	ENST00000521978.1	37	c.4684	CCDS47449.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	25.5|25.5|25.5	4.647805|4.647805|4.647805	0.87958|0.87958|0.87958	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433|ENST00000350827;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192	.|.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|.|0.76709	.|.|-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;0.96;-1.04;-1.04;-1.04;-1.04	5.61|5.61|5.61	5.61|5.61|5.61	0.85477|0.85477|0.85477	.|.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|.|0.089966	.|.|0.50627	.|.|D	.|.|0.000117	T|T|T	0.71846|0.71846|0.71846	0.3388|0.3388|0.3388	L|L|L	0.38175|0.38175|0.38175	1.15|1.15|1.15	0.37091|0.37091|0.37091	D|D|D	0.899426|0.899426|0.899426	.|.|B;B;B;D;P;P;B;P;D;B;P;P	.|.|0.55800	.|.|0.097;0.045;0.17;0.97;0.828;0.493;0.025;0.849;0.973;0.025;0.653;0.828	.|.|B;B;P;P;P;P;B;P;P;B;P;P	.|.|0.61940	.|.|0.286;0.286;0.676;0.825;0.752;0.676;0.164;0.687;0.896;0.228;0.648;0.547	T|T|T	0.78620|0.78620|0.78620	-0.2133|-0.2133|-0.2133	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-22.9153|-22.9153|-22.9153	6.0204|6.0204|6.0204	0.19626|0.19626|0.19626	0.798:0.0:0.202:0.0|0.798:0.0:0.202:0.0|0.798:0.0:0.202:0.0	.|.|.	.|.|186;368;696;687;1411;882;1161;465;1241;1345;638;1562	.|.|B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;Q86UR5	.|.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	D|T|R	479|907|1411;1345;1241;1161;1411;1345;1241;1212;1161;1562;882;687;630;727;696;610;368;89	.|.|ENSP00000275037:S1345R;ENSP00000264839:S1411R;ENSP00000429959:S1345R;ENSP00000430408:S1241R;ENSP00000430502:S1212R;ENSP00000430932:S1161R;ENSP00000428417:S1562R;ENSP00000385649:S882R;ENSP00000428328:S687R;ENSP00000411235:S630R;ENSP00000389503:S727R;ENSP00000428367:S696R;ENSP00000359448:S610R;ENSP00000439730:S368R;ENSP00000402273:S89R	.|.|ENSP00000264839:S1411R	E|K|S	+|+|+	3|2|1	2|0|0	RIMS1|RIMS1|RIMS1	73164737|73164737|73164737	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.976000|0.976000|0.976000	0.68499|0.68499|0.68499	7.617000|7.617000|7.617000	0.83032|0.83032|0.83032	2.145000|2.145000|2.145000	0.66743|0.66743|0.66743	0.477000|0.477000|0.477000	0.44152|0.44152|0.44152	GAA|AAG|AGC	RIMS1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000079841		0.393	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	64	0	A			73108016	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	54.35	21	25	SNP	1.000	C	C	73108016	A	C	73108016	3	2	151	1	0	0	0	0	1	0	0	0	13412	72	3	4	4973	4	RIMS1	6	73108016	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	26451394	73108016	98007051	80	38445											
C6orf165	154313	genome.wustl.edu	37	chr6	88120319	88120319	+	Missense_Mutation	SNP	T	T	G	0	1	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	ctaggtgaaagctgttgtccTggatccaagtaatggcttta	10	13	11	7	0	0	1	0	1	0	0	2	2	2	2	2	3	1	4	2	3	5	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:88120319T>G	ENST00000507897.1	+	3	208	c.125T>G	c.(124-126)cTg>cGg	p.L42R	C6ORF165_ENST00000369562.4_Missense_Mutation_p.L42R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	42										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)		GCTGTTGTCCTGGATCCAAGT	0.343																																																	0													151	146	147					6																	88120319		2203	4300	6503	SO:0001583	missense	0			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.125T>G	6.37:g.88120319T>G	ENSP00000426769:p.Leu42Arg		A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	pfam_DUF3508	p.L42R	ENST00000507897.1	37	c.125	CCDS34498.1	6	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735074	0.69189	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.36878	1.23;1.35	5.73	4.54	0.55810	.	0.161441	0.40908	N	0.000994	T	0.52500	0.1738	M	0.83953	2.67	0.46356	D	0.999006	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.62058	-0.6934	10	0.87932	D	0	.	12.7947	0.57553	0.0:0.0:0.137:0.863	.	42;42	Q8IYR0;E1P509	CF165_HUMAN;.	R	42	ENSP00000358575:L42R;ENSP00000422494:L42R	ENSP00000358575:L42R	L	+	2	0	C6orf165	88177038	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	5.847000	0.69451	1.062000	0.40625	0.533000	0.62120	CTG	C6ORF165	-	NULL	ENSG00000272514		0.343	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	Uniprot_gn	protein_coding	OTTHUMT00000470406.1	-	0	69	0	T	NM_178823		88120319	1	tier1	-	no_errors	ENST00000369562	ensembl	human	known	74_37	missense	56.92	27	37	SNP	0.996	G	G	88120319	T	G	88120319	3	3	151	1	0	0	0	0	1	0	0	0	2348	1580	55	4	131	4	C6orf165	6	88120319	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	15012303	88120319	82994748	81	38446											
C6orf170	221322	genome.wustl.edu	37	chr6	121642778	121642778	+	Splice_Site	SNP	C	C	T	0	0	0	1	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	tattattatggccatactcaCtctttagattcttgagttct	9	19	5	8	0	4	2	1	1	3	1	4	2	4	2	1	1	1	1	1	1	5	9			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:121642778C>T	ENST00000398212.2	-	2	367		c.e2+1		TBC1D32_ENST00000275159.6_Splice_Site	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32						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)										GCCATACTCACTCTTTAGATT	0.408																																																	0													230	215	220					6																	121642778		1914	4120	6034	SO:0001630	splice_region_variant	0			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.317+1G>A	6.37:g.121642778C>T			Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Splice_Site	SNP	-	e2+1	ENST00000398212.2	37	c.317+1	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620161	0.66787	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7751	0.91908	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf170	121684477	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	6.807000	0.75201	2.456000	0.83038	0.609000	0.83330	.	TBC1D32	-	-	ENSG00000146350		0.408	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2	-	0	47	0	C	NM_152730	Intron	121642778	-1	tier1	-	no_errors	ENST00000464622	ensembl	human	known	74_37	splice_site	75.00	10	30	SNP	1.000	T	T	121642778	C	T	121642778	5	4	151	1	0	0	0	0	0	0	1	0	2351	579	20	3	3579	3	C6orf170	6	121642778	Splice_Site	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	33522459	121642778	49472289	82	38447											
GRM1	2911	genome.wustl.edu	37	chr6	146720526	146720526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccgccaacttcaacgaggCcaaatatatcgcgttcacca	12	7	7	15	4	2	0	2	0	0	0	3	1	2	0	4	1	2	1	4	1	5	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:146720526C>T	ENST00000282753.1	+	7	2586	c.2351C>T	c.(2350-2352)gCc>gTc	p.A784V	GRM1_ENST00000492807.2_Missense_Mutation_p.A784V|GRM1_ENST00000355289.4_Missense_Mutation_p.A784V|GRM1_ENST00000392299.2_Missense_Mutation_p.A784V|GRM1_ENST00000507907.1_Missense_Mutation_p.A784V|GRM1_ENST00000361719.2_Missense_Mutation_p.A784V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	784					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)	p.A784V(2)		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)		TTCAACGAGGCCAAATATATC	0.498																																																	2	Substitution - Missense(2)	lung(2)											175	150	158					6																	146720526		2203	4300	6503	SO:0001583	missense	0			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.2351C>T	6.37:g.146720526C>T	ENSP00000282753:p.Ala784Val		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.A784V	ENST00000282753.1	37	c.2351	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.060787	0.93846	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.68	5.68	0.88126	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	H	0.96269	3.795	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	0.98321	1.0528	10	0.87932	D	0	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	784;784;784	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	V	784	ENSP00000354896:A784V;ENSP00000376119:A784V;ENSP00000424095:A784V;ENSP00000282753:A784V;ENSP00000347437:A784V;ENSP00000425599:A784V	ENSP00000282753:A784V	A	+	2	0	GRM1	146762219	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.686000	0.91538	0.585000	0.79938	GCC	GRM1	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000152822		0.498	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0	91	0	C	NM_000838		146720526	1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	146720526	C	T	146720526	3	4	151	1	0	0	0	0	1	0	0	0	6823	739	26	3	2377	3	GRM1	6	146720526	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	25077748	146720526	24394541	83	38448											
IQCE	23288	genome.wustl.edu	37	chr7	2622228	2622228	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcaggtcattaacgggctGaagcagaggatcctgaagct	11	7	15	8	1	1	3	1	2	0	1	2	4	2	4	1	4	3	4	1	4	3	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:2622228G>C	ENST00000402050.2	+	9	829	c.645G>C	c.(643-645)ctG>ctC	p.L215L	IQCE_ENST00000438376.2_Silent_p.L199L|IQCE_ENST00000404984.1_Silent_p.L164L|IQCE_ENST00000497572.1_3'UTR|IQCE_ENST00000325979.7_Silent_p.L150L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	215						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TTAACGGGCTGAAGCAGAGGA	0.657																																																	0													46	54	51					7																	2622228		2125	4220	6345	SO:0001819	synonymous_variant	0			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.645G>C	7.37:g.2622228G>C			Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.L215	ENST00000402050.2	37	c.645	CCDS43542.1	7																																																																																			IQCE	-	NULL	ENSG00000106012		0.657	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	HGNC	protein_coding	OTTHUMT00000325063.2	-	0	8	0	G	NM_152558		2622228	1	tier1	-	no_errors	ENST00000402050	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.916	C	C	2622228	G	C	2622228	2	2	151	1	0	0	0	0	0	0	0	1	7833	1277	45	5		5	IQCE	7	2622228	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09		2622228	156516435	84	38449											
RADIL	55698	genome.wustl.edu	37	chr7	4874715	4874715	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgggctccaggaccagcctCcccgcggcctggccgctgtc	4	6	13	18	3	0	0	0	0	0	0	3	1	2	1	7	4	1	2	7	4	0	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:4874715C>A	ENST00000399583.3	-	4	1126	c.939G>T	c.(937-939)ggG>ggT	p.G313G	RADIL_ENST00000538469.1_Silent_p.G73G|RADIL_ENST00000536091.1_Silent_p.G313G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	313					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)		GGACCAGCCTCCCCGCGGCCT	0.701																																																	0													10	14	13					7																	4874715		1963	4136	6099	SO:0001819	synonymous_variant	0			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.939G>T	7.37:g.4874715C>A			A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Nonsense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.E312*	ENST00000399583.3	37	c.934	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	-	15.71	2.912860	0.52439	.	.	ENSG00000157927	ENST00000544486	.	.	.	4.3	-7.11	0.01542	.	2.003860	0.02074	N	0.051819	T	0.19525	0.0469	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09596	-1.0667	6	0.26408	T	0.33	6.0E-4	4.1769	0.10356	0.0878:0.4878:0.1485:0.2758	.	.	.	.	V	48	.	ENSP00000437686:G48V	G	-	2	0	RADIL	4841241	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	0.020000	0.13466	-1.200000	0.02662	-1.004000	0.02495	GGA	RADIL	-	NULL	ENSG00000157927		0.701	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	-	0	75	0	C	NM_018059		4874715	-1	tier1	-	no_errors	ENST00000445392	ensembl	human	known	74_37	nonsense	23.00	77	23	SNP	0.000	A	A	4874715	C	A	4874715	2	1	151	1	0	0	0	0	0	0	0	1	13042	842	30	3		3	RADIL	7	4874715	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	2252487	4874715	154263948	85	38450											
GHRHR	2692	genome.wustl.edu	37	chr7	31018816	31018816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gacccgtgctaagtggaccaCgccttcccgctcggcggcaa	7	6	12	16	5	0	0	0	0	0	0	2	2	1	1	4	3	1	3	4	3	2	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:31018816C>T	ENST00000326139.2	+	13	1275	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M	GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409904.3_Missense_Mutation_p.T346M|GHRHR_ENST00000409316.1_3'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	410					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.T410M(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	AAGTGGACCACGCCTTCCCGC	0.592																																																	1	Substitution - Missense(1)	large_intestine(1)											122	89	100					7																	31018816		2203	4300	6503	SO:0001583	missense	0				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1229C>T	7.37:g.31018816C>T	ENSP00000320180:p.Thr410Met		Q99863	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1	p.T410M	ENST00000326139.2	37	c.1229	CCDS5432.1	7	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576833	0.28092	.	.	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.52983	0.64;0.82	4.94	-3.92	0.04155	.	.	.	.	.	T	0.29914	0.0748	L	0.31065	0.9	0.09310	N	0.999999	B;B	0.17852	0.024;0.024	B;B	0.14023	0.01;0.005	T	0.29971	-0.9994	9	0.56958	D	0.05	.	5.8845	0.18874	0.0:0.3885:0.321:0.2905	.	346;410	Q9HB45;Q02643	.;GHRHR_HUMAN	M	410;346	ENSP00000320180:T410M;ENSP00000387113:T346M	ENSP00000320180:T410M	T	+	2	0	GHRHR	30985341	0.001000	0.12720	0.004000	0.12327	0.321000	0.28281	-0.427000	0.06999	-0.426000	0.07360	-0.950000	0.02660	ACG	GHRHR	-	prints_GPCR_2_GHRH_rcpt	ENSG00000106128		0.592	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHRHR	HGNC	protein_coding	OTTHUMT00000327967.2		0	35	0	C			31018816	1			no_errors	ENST00000326139	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.001	T	T	31018816	C	T	31018816	3	4	151	1	0	0	0	0	1	0	0	0	6399	536	19	1	1319	1	GHRHR	7	31018816	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	26144101	31018816	128119847	86	38451											
POM121L12	285877	genome.wustl.edu	37	chr7	53103888	53103888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggacccctgcacccGggagactctgctgggggcgc	4	6	15	16	2	1	1	0	0	1	1	2	3	2	2	4	4	2	3	4	4	0	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:53103888G>A	ENST00000408890.4	+	1	540	c.524G>A	c.(523-525)cGg>cAg	p.R175Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	175										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCTGCACCCGGGAGACTCTG	0.721																																																	0													19	23	22					7																	53103888		1863	4087	5950	SO:0001583	missense	0				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.524G>A	7.37:g.53103888G>A	ENSP00000386133:p.Arg175Gln		Q8NDI9	Missense_Mutation	SNP	NULL	p.R175Q	ENST00000408890.4	37	c.524	CCDS43584.1	7	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645545	0.29246	.	.	ENSG00000221900	ENST00000408890	T	0.28069	1.63	2.35	-4.69	0.03299	.	.	.	.	.	T	0.12135	0.0295	N	0.14661	0.345	0.09310	N	1	B	0.33280	0.405	B	0.21360	0.034	T	0.14090	-1.0485	9	0.59425	D	0.04	.	4.756	0.13085	0.2517:0.4714:0.277:0.0	.	175	Q8N7R1	P1L12_HUMAN	Q	175	ENSP00000386133:R175Q	ENSP00000386133:R175Q	R	+	2	0	POM121L12	53071382	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.860000	0.04272	-0.942000	0.03695	-0.280000	0.10049	CGG	POM121L12	-	NULL	ENSG00000221900		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	HGNC	protein_coding	OTTHUMT00000342656.1	-	0	35	0	G	NM_182595		53103888	1	tier1	-	no_errors	ENST00000408890	ensembl	human	known	74_37	missense	50.94	26	27	SNP	0.000	A	A	53103888	G	A	53103888	3	1	151	1	0	0	0	0	1	0	0	0	12280	1116	39	1	526	1	POM121L12	7	53103888	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	22085072	53103888	106034775	87	38452											
ZNF479	90827	genome.wustl.edu	37	chr7	57193732	57193732	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctctcacctacctgggtgTttggctaccatctcatttct	5	15	7	14	1	3	0	2	0	3	0	5	0	3	0	3	2	2	3	3	2	2	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:57193732T>G	ENST00000331162.4	-	4	525	c.255A>C	c.(253-255)aaA>aaC	p.K85N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TACCTGGGTGTTTGGCTACCA	0.448																																																	0													76	82	80					7																	57193732		2053	4103	6156	SO:0001583	missense	0			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.255A>C	7.37:g.57193732T>G	ENSP00000333776:p.Lys85Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K85N	ENST00000331162.4	37	c.255	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	t	8.776	0.927188	0.18056	.	.	ENSG00000185177	ENST00000331162	T	0.06608	3.28	0.699	-0.561	0.11785	Krueppel-associated box (1);	.	.	.	.	T	0.09247	0.0228	N	0.17278	0.47	0.09310	N	1	D	0.71674	0.998	D	0.76071	0.987	T	0.33548	-0.9864	8	0.39692	T	0.17	.	.	.	.	.	85	Q96JC4	ZN479_HUMAN	N	85	ENSP00000333776:K85N	ENSP00000333776:K85N	K	-	3	2	ZNF479	57197674	0.017000	0.18338	0.011000	0.14972	0.028000	0.11728	-0.114000	0.10757	-0.213000	0.10094	0.324000	0.21423	AAA	ZNF479	-	pfscan_Krueppel-associated_box	ENSG00000185177		0.448	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	-	0	87	0	T	XM_291202		57193732	-1	tier1	-	no_errors	ENST00000331162	ensembl	human	known	74_37	missense	29.17	85	35	SNP	0.056	G	G	57193732	T	G	57193732	3	3	151	1	0	0	0	0	1	0	0	0	17981	1722	60	4	1327	4	ZNF479	7	57193732	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	4089844	57193732	101944931	88	38453											
BAZ1B	9031	genome.wustl.edu	37	chr7	72873923	72873923	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcagtttttgctgaatcTtcactttggagttttcttct	5	21	6	9	0	5	1	2	1	3	0	6	2	6	2	1	1	1	3	1	1	1	7			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:72873923T>C	ENST00000339594.4	-	13	3713	c.3375A>G	c.(3373-3375)gaA>gaG	p.E1125E	BAZ1B_ENST00000404251.1_Silent_p.E1125E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1125					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)	p.E1125E(1)		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)				TTGCTGAATCTTCACTTTGGA	0.388																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												1	Substitution - coding silent(1)	kidney(1)											193	184	187					7																	72873923		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3375A>G	7.37:g.72873923T>C			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1125	ENST00000339594.4	37	c.3375	CCDS5549.1	7																																																																																			BAZ1B	-	superfamily_ARM-type_fold	ENSG00000009954		0.388	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4		0	49	0	T	NM_032408		72873923	-1			no_errors	ENST00000339594	ensembl	human	known	74_37	silent	6.90	27	2	SNP	1.000	C	C	72873923	T	C	72873923	2	2	151	1	0	0	0	0	0	0	0	1	1331	1606	56	4		4	BAZ1B	7	72873923	Silent	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	15680191	72873923	86264740	89	38454											
MDH2	4191	genome.wustl.edu	37	chr7	75692863	75692863	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cagctcgagtcaacgtccctGtcattggtggccatgctggg	6	10	13	12	2	2	0	2	0	0	0	4	1	3	0	2	3	3	2	2	3	1	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:75692863G>T	ENST00000315758.5	+	6	680	c.586G>T	c.(586-588)Gtc>Ttc	p.V196F	MDH2_ENST00000443006.1_Missense_Mutation_p.V89F|MDH2_ENST00000432020.2_Missense_Mutation_p.V154F	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	196					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						CAACGTCCCTGTCATTGGTGG	0.517																																																	0													185	141	156					7																	75692863		2203	4300	6503	SO:0001583	missense	0				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.586G>T	7.37:g.75692863G>T	ENSP00000327070:p.Val196Phe		A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1	p.V196F	ENST00000315758.5	37	c.586	CCDS5581.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.209877	0.95069	.	.	ENSG00000146701	ENST00000315758;ENST00000443006;ENST00000432020	T;T;T	0.76186	-1.0;-1.0;-1.0	5.69	5.69	0.88448	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91399	0.7286	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.942;1.0	D	0.93801	0.7101	10	0.87932	D	0	-32.0523	18.7945	0.91988	0.0:0.0:1.0:0.0	.	154;196	E9PDB2;P40926	.;MDHM_HUMAN	F	196;89;154	ENSP00000327070:V196F;ENSP00000416929:V89F;ENSP00000408649:V154F	ENSP00000327070:V196F	V	+	1	0	MDH2	75530799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.554000	0.98121	2.691000	0.91804	0.655000	0.94253	GTC	MDH2	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1	ENSG00000146701		0.517	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH2	HGNC	protein_coding	OTTHUMT00000252851.1	-	0	67	0	G			75692863	1	tier1	-	no_errors	ENST00000315758	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	T	T	75692863	G	T	75692863	3	4	151	1	0	0	0	0	1	0	0	0	9448	1377	48	3	608	3	MDH2	7	75692863	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	2818940	75692863	83445800	90	38455											
PCLO	27445	genome.wustl.edu	37	chr7	82544889	82544889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccagcaaggtgatctaagCtctctgtccctctacgaaat	11	10	8	12	1	3	1	0	1	3	0	5	3	4	1	2	1	3	2	2	1	4	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:82544889C>A	ENST00000333891.9	-	7	12750	c.12413G>T	c.(12412-12414)aGc>aTc	p.S4138I	PCLO_ENST00000437081.1_Missense_Mutation_p.S858I|PCLO_ENST00000423517.2_Missense_Mutation_p.S4138I	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						GTGATCTAAGCTCTCTGTCCC	0.408																																																	0													121	113	116					7																	82544889		1890	4115	6005	SO:0001583	missense	0			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.12413G>T	7.37:g.82544889C>A	ENSP00000334319:p.Ser4138Ile			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S4138I	ENST00000333891.9	37	c.12413	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504370	0.44558	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.23754	1.89;1.89	5.57	4.69	0.59074	.	.	.	.	.	T	0.44644	0.1303	M	0.71036	2.16	0.43953	D	0.996629	B;D;D	0.57571	0.303;0.98;0.98	B;P;P	0.56700	0.121;0.804;0.804	T	0.48969	-0.8987	9	0.87932	D	0	.	14.4306	0.67246	0.0:0.9292:0.0:0.0708	.	4069;4138;4138	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	I	4138;4138;858	ENSP00000334319:S4138I;ENSP00000388393:S4138I	ENSP00000334319:S4138I	S	-	2	0	PCLO	82382825	0.983000	0.35010	1.000000	0.80357	0.995000	0.86356	2.645000	0.46621	1.348000	0.45733	0.557000	0.71058	AGC	PCLO	-	NULL	ENSG00000186472		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	66	0	C	NM_014510		82544889	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	31.25	33	15	SNP	0.997	A	A	82544889	C	A	82544889	3	1	151	1	0	0	0	0	1	0	0	0	11622	797	28	3	3108	3	PCLO	7	82544889	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	6852026	82544889	76593774	91	38456											
ABCB4	5244	genome.wustl.edu	37	chr7	87092124	87092124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaatttgtcagtcatctctCcaaatactatcatcatgagg	13	13	5	10	0	5	1	4	1	1	0	7	1	6	1	1	1	1	0	1	1	4	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:87092124C>T	ENST00000265723.4	-	4	347	c.236G>A	c.(235-237)gGa>gAa	p.G79E	ABCB4_ENST00000453593.1_Missense_Mutation_p.G79E|ABCB4_ENST00000358400.3_Missense_Mutation_p.G79E|ABCB4_ENST00000359206.3_Missense_Mutation_p.G79E|ABCB4_ENST00000545634.1_Missense_Mutation_p.G79E	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	79	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGTCATCTCTCCAAATACTAT	0.403																																																	0													91	85	87					7																	87092124		2203	4300	6503	SO:0001583	missense	0			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.236G>A	7.37:g.87092124C>T	ENSP00000265723:p.Gly79Glu		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.G79E	ENST00000265723.4	37	c.236	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044863	0.93685	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81	5.32	5.32	0.75619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.051789	0.85682	N	0.000000	D	0.96629	0.8900	M	0.92691	3.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.97423	1.0010	10	0.87932	D	0	-15.1279	19.0008	0.92832	0.0:1.0:0.0:0.0	.	79;79;79;79	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	E	79	ENSP00000352135:G79E;ENSP00000351172:G79E;ENSP00000265723:G79E;ENSP00000392983:G79E;ENSP00000437465:G79E	ENSP00000265723:G79E	G	-	2	0	ABCB4	86930060	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.187000	0.77730	2.503000	0.84419	0.563000	0.77884	GGA	ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000005471		0.403	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	-	0	32	0	C	NM_000443		87092124	-1	tier1	-	no_errors	ENST00000265723	ensembl	human	known	74_37	missense	31.67	41	19	SNP	1.000	T	T	87092124	C	T	87092124	3	4	151	1	0	0	0	0	1	0	0	0	43	855	30	3	3724	3	ABCB4	7	87092124	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	4547235	87092124	72046539	92	38457											
PPP1R9A	55607	genome.wustl.edu	37	chr7	94540222	94540222	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttcaaacaagcgaggtgTtgatacagaggatgctcaca	13	9	10	9	1	2	2	2	1	0	1	3	4	3	3	1	2	4	2	1	2	3	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:94540222T>G	ENST00000433881.1	+	2	1329	c.797T>G	c.(796-798)gTt>gGt	p.V266G	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V266G|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V266G|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.V266G|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V266G|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V266G			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	266					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGCGAGGTGTTGATACAGAG	0.433										HNSCC(28;0.073)																																							0													70	60	64					7																	94540222		2203	4300	6503	SO:0001583	missense	0			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.797T>G	7.37:g.94540222T>G	ENSP00000398870:p.Val266Gly		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.V266G	ENST00000433881.1	37	c.797	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	T	0.067	-1.210829	0.01555	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	5.75	-0.134	0.13481	.	1.131130	0.06505	N	0.736973	D	0.84056	0.5388	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.20261	0.02;0.043;0.043;0.012;0.001	B;B;B;B;B	0.23852	0.01;0.03;0.049;0.006;0.004	T	0.70490	-0.4857	9	.	.	.	.	7.6673	0.28439	0.1675:0.6284:0.0:0.2041	.	266;266;266;266;266	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	G	266	ENSP00000405514:V266G;ENSP00000344524:V266G;ENSP00000411342:V266G;ENSP00000398870:V266G;ENSP00000289495:V266G;ENSP00000402893:V266G	.	V	+	2	0	PPP1R9A	94378158	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.735000	0.26115	-0.237000	0.09739	-0.361000	0.07541	GTT	PPP1R9A	-	NULL	ENSG00000158528		0.433	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1		0	25	0	T	NM_001166160		94540222	1			no_errors	ENST00000289495	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.001	G	G	94540222	T	G	94540222	3	3	151	1	0	0	0	0	1	0	0	0	12420	1725	60	4	799	4	PPP1R9A	7	94540222	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	7448098	94540222	64598441	93	38458											
PPP1R9A	55607	genome.wustl.edu	37	chr7	94898626	94898626	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttccacccctcaccccGgtggatagcaatgtgccctt	6	10	10	15	1	1	0	1	0	0	0	2	1	2	1	6	3	2	2	6	3	2	3	rs374685907		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:94898626G>T	ENST00000433881.1	+	12	3289				PPP1R9A_ENST00000424654.1_Silent_p.P955P|PPP1R9A_ENST00000433360.1_Silent_p.P977P|PPP1R9A_ENST00000289495.5_Silent_p.P937P|PPP1R9A_ENST00000456331.2_Silent_p.P955P|PPP1R9A_ENST00000340694.4_Intron			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A						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.P955P(1)|p.P977P(1)		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)			CCCTCACCCCGGTGGATAGCA	0.478										HNSCC(28;0.073)																																							2	Substitution - coding silent(2)	breast(2)											68	62	64					7																	94898626		1568	3581	5149	SO:0001627	intron_variant	0			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.2757+607G>T	7.37:g.94898626G>T			A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.P937	ENST00000433881.1	37	c.2811	CCDS34683.1	7																																																																																			PPP1R9A	-	NULL	ENSG00000158528		0.478	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1		0	40	0	G	NM_001166160		94898626	1			no_errors	ENST00000289495	ensembl	human	known	74_37	silent	6.38	43	3	SNP	0.362	T	T	94898626	G	T	94898626	1	4	151	0	1	0	0	0	0	0	0	0	12420	1103	39	2		2	PPP1R9A	7	94898626	Intron	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	358404	94898626	64240037	94	38459											
GNB2	2783	genome.wustl.edu	37	chr7	100275870	100275870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgtgggacgtgcgggattCcatgtgccgacagaccttca	7	9	14	11	3	1	1	1	0	0	1	2	4	2	3	3	2	2	1	3	2	0	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:100275870C>T	ENST00000303210.4	+	8	1129	c.647C>T	c.(646-648)tCc>tTc	p.S216F	GNB2_ENST00000427895.1_Missense_Mutation_p.S116F|GNB2_ENST00000424361.1_Missense_Mutation_p.S172F|GNB2_ENST00000393926.1_Missense_Mutation_p.S216F|GNB2_ENST00000419828.1_Missense_Mutation_p.S116F|GNB2_ENST00000436220.1_Missense_Mutation_p.S172F|GNB2_ENST00000393924.1_Missense_Mutation_p.S216F	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	216					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)				GTGCGGGATTCCATGTGCCGA	0.622																																																	0													126	116	120					7																	100275870		2203	4300	6503	SO:0001583	missense	0			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.647C>T	7.37:g.100275870C>T	ENSP00000305260:p.Ser216Phe		B3KPU1|P11016|P54312	Missense_Mutation	SNP	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S216F	ENST00000303210.4	37	c.647	CCDS5703.1	7	.	.	.	.	.	.	.	.	.	.	.	18.14	3.557613	0.65425	.	.	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000431068;ENST00000393924	T;T;T;T;T;T;T;T;T	0.81163	5.02;5.02;-1.46;-1.46;-1.46;-1.46;5.02;5.02;5.02	4.9	3.02	0.34903	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.125817	0.56097	D	0.000038	T	0.74512	0.3726	N	0.13043	0.29	0.38572	D	0.949963	P	0.41366	0.747	P	0.49637	0.617	T	0.78155	-0.2314	10	0.87932	D	0	-0.7498	12.6979	0.57014	0.0:0.5069:0.4931:0.0	.	216	P62879	GBB2_HUMAN	F	216;216;172;172;116;116;216;216;216	ENSP00000305260:S216F;ENSP00000399904:S216F;ENSP00000401873:S172F;ENSP00000389391:S172F;ENSP00000390543:S116F;ENSP00000400286:S116F;ENSP00000377503:S216F;ENSP00000390077:S216F;ENSP00000377501:S216F	ENSP00000305260:S216F	S	+	2	0	GNB2	100113806	1.000000	0.71417	0.002000	0.10522	0.888000	0.51559	6.910000	0.75741	0.620000	0.30215	0.462000	0.41574	TCC	GNB2	-	pirsf_Guanine_nucleotide-bd_bsu,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000172354		0.622	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB2	HGNC	protein_coding	OTTHUMT00000268391.2	-	0	27	0	C	NM_005273		100275870	1	tier1	-	no_errors	ENST00000303210	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.795	T	T	100275870	C	T	100275870	3	4	151	1	0	0	0	0	1	0	0	0	6543	855	30	3	673	3	GNB2	7	100275870	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	5377244	100275870	58862793	95	38460											
PLXNA4	91584	genome.wustl.edu	37	chr7	131895861	131895861	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataggcttgatcacctccacGggcaccaggatcttgtccac	9	9	9	14	1	2	1	1	1	1	0	4	2	4	2	4	3	0	2	4	3	1	3	rs369845177		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:131895861G>T	ENST00000359827.3	-	10	3101	c.2139C>A	c.(2137-2139)ccC>ccA	p.P713P	PLXNA4_ENST00000321063.4_Silent_p.P713P			Q9HCM2	PLXA4_HUMAN	plexin A4	713					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)	p.P713P(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCACCTCCACGGGCACCAGGA	0.617																																																	4	Substitution - coding silent(4)	large_intestine(2)|lung(2)						G		5,4201		0,5,2098	21	23	23		2139	-9.8	0.6	7		23	0,8486		0,0,4243	no	coding-synonymous	PLXNA4	NM_020911.1		0,5,6341	TT,TG,GG		0.0,0.1189,0.0394		713/1895	131895861	5,12687	2103	4243	6346	SO:0001819	synonymous_variant	0			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.2139C>A	7.37:g.131895861G>T			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.P713	ENST00000359827.3	37	c.2139	CCDS43646.1	7																																																																																			PLXNA4	-	NULL	ENSG00000221866		0.617	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2		0	42	0	G	NM_181775		131895861	-1			no_errors	ENST00000321063	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.005	T	T	131895861	G	T	131895861	2	4	151	1	0	0	0	0	0	0	0	1	12161	1103	39	2		2	PLXNA4	7	131895861	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	31619991	131895861	27242802	96	38461											
NUP205	23165	genome.wustl.edu	37	chr7	135303237	135303237	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcaaaacgtcatgctctGgagtcgtggaggcaactagt	11	9	12	9	2	2	0	1	0	1	0	3	2	2	2	0	3	4	3	0	3	4	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:135303237G>T	ENST00000285968.6	+	28	3875	c.3849G>T	c.(3847-3849)ctG>ctT	p.L1283L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1283					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						GTCATGCTCTGGAGTCGTGGA	0.423																																																	0													174	161	165					7																	135303237		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3849G>T	7.37:g.135303237G>T			A6H8X3|Q86YC1	Silent	SNP	pfam_Nup186/Nup192/Nup205	p.L1283	ENST00000285968.6	37	c.3849	CCDS34759.1	7																																																																																			NUP205	-	pfam_Nup186/Nup192/Nup205	ENSG00000155561		0.423	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1		0	48	0	G			135303237	1			no_errors	ENST00000285968	ensembl	human	known	74_37	silent	6.45	29	2	SNP	1.000	T	T	135303237	G	T	135303237	2	4	151	1	0	0	0	0	0	0	0	1	10798	1335	47	3		3	NUP205	7	135303237	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	3407376	135303237	23835426	97	38462											
ZNF425	155054	genome.wustl.edu	37	chr7	148802201	148802201	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcccttcaggaagtaGctcttctcacactcactgca	9	10	8	14	0	4	0	3	0	2	0	5	1	4	1	1	2	3	4	1	2	2	3	rs202176145		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:148802201G>A	ENST00000378061.2	-	4	894	c.762C>T	c.(760-762)agC>agT	p.S254S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	254					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)			TCAGGAAGTAGCTCTTCTCAC	0.582																																																	0													97	96	96					7																	148802201		2203	4300	6503	SO:0001819	synonymous_variant	0			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.762C>T	7.37:g.148802201G>A			B3KPM1|Q08AG3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.S254	ENST00000378061.2	37	c.762	CCDS34773.1	7																																																																																			ZNF425	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204947		0.582	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0	47	0	G	XM_088140		148802201	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	silent	51.52	16	17	SNP	0.894	A	A	148802201	G	A	148802201	2	1	151	1	0	0	0	0	0	0	0	1	17947	962	34	3		3	ZNF425	7	148802201	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	13498964	148802201	10336462	98	38463											
ZNF775	285971	genome.wustl.edu	37	chr7	150094126	150094126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caagcaccagaagacccactCccggcccgccacccactcgt	10	3	7	21	3	0	2	0	0	0	2	2	2	1	2	6	1	1	1	6	1	2	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:150094126C>T	ENST00000329630.5	+	3	664	c.557C>T	c.(556-558)tCc>tTc	p.S186F		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	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)	p.S186Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGACCCACTCCCGGCCCGCC	0.731																																																	1	Substitution - Missense(1)	lung(1)											7	10	9					7																	150094126		2059	4150	6209	SO:0001583	missense	0			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.557C>T	7.37:g.150094126C>T	ENSP00000330838:p.Ser186Phe		Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S186F	ENST00000329630.5	37	c.557	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907351	0.33628	.	.	ENSG00000196456	ENST00000329630	T	0.61274	0.12	4.73	3.85	0.44370	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55130	0.1901	L	0.48935	1.535	0.09310	N	1	P	0.45011	0.848	P	0.46275	0.51	T	0.43327	-0.9398	8	.	.	.	.	10.5101	0.44857	0.0:0.9052:0.0:0.0948	.	186	Q96BV0	ZN775_HUMAN	F	186	ENSP00000330838:S186F	.	S	+	2	0	ZNF775	149725059	0.000000	0.05858	0.069000	0.20011	0.183000	0.23260	0.244000	0.18124	1.227000	0.43598	0.555000	0.69702	TCC	ZNF775	-	pfscan_Znf_C2H2	ENSG00000196456		0.731	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1	-	0	13	0	C	NM_173680		150094126	1	tier1	-	no_errors	ENST00000329630	ensembl	human	known	74_37	missense	46.15	7	6	SNP	0.165	T	T	150094126	C	T	150094126	3	4	151	1	0	0	0	0	1	0	0	0	18196	855	30	3	563	3	ZNF775	7	150094126	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	1291925	150094126	9044537	99	38464											
GIMAP2	26157	genome.wustl.edu	37	chr7	150389659	150389659	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagctctgtacaaagaggtGcagaggtgctacttgctgtc	10	10	13	8	0	1	2	0	0	1	2	2	3	1	2	0	2	6	5	0	2	4	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:150389659G>T	ENST00000223293.5	+	3	379	c.285G>T	c.(283-285)gtG>gtT	p.V95V		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	95	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)	p.V95V(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		acaaagaggtgcagaggtgct	0.527																																																	1	Substitution - coding silent(1)	lung(1)											64	61	62					7																	150389659		2203	4300	6503	SO:0001819	synonymous_variant	0			AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"GTPases, IMAP"	21789	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 12"	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.285G>T	7.37:g.150389659G>T			Q96L25	Silent	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.V95	ENST00000223293.5	37	c.285	CCDS5905.1	7																																																																																			GIMAP2	-	pfam_AIG1,superfamily_P-loop_NTPase	ENSG00000106560		0.527	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP2	HGNC	protein_coding	OTTHUMT00000348948.1		0	30	0	G	NM_015660		150389659	1			no_errors	ENST00000223293	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.007	T	T	150389659	G	T	150389659	2	4	151	1	0	0	0	0	0	0	0	1	6406	1306	46	3		3	GIMAP2	7	150389659	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	295533	150389659	8749004	100	38465											
ARHGEF10	9639	genome.wustl.edu	37	chr8	1905070	1905070	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaggacgcacttccgagtGgaggagctggttcatctctg	9	9	14	9	2	2	1	1	0	1	1	4	5	3	4	1	4	1	3	1	4	1	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:1905070G>T	ENST00000398564.1	+	29	3751	c.3751G>T	c.(3751-3753)Gga>Tga	p.G1251*	ARHGEF10_ENST00000520359.1_Nonsense_Mutation_p.G1188*|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Nonsense_Mutation_p.G1226*|ARHGEF10_ENST00000262112.6_Nonsense_Mutation_p.G1222*|ARHGEF10_ENST00000518288.1_Nonsense_Mutation_p.G1250*			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1251					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACTTCCGAGTGGAGGAGCTGG	0.602																																																	0													97	93	94					8																	1905070		2203	4300	6503	SO:0001587	stop_gained	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3751G>T	8.37:g.1905070G>T	ENSP00000381571:p.Gly1251*		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.G1251*	ENST00000398564.1	37	c.3751		8	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934365	0.92458	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	.	.	.	5.71	5.71	0.89125	.	1.608420	0.03932	N	0.285367	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-19.6883	19.8366	0.96659	0.0:0.0:1.0:0.0	.	.	.	.	X	1226;1188;1250;1251;1222;870	.	ENSP00000262112:G1222X	G	+	1	0	ARHGEF10	1892477	0.953000	0.32496	0.113000	0.21522	0.001000	0.01503	4.033000	0.57282	2.673000	0.90976	0.655000	0.94253	GGA	ARHGEF10	-	NULL	ENSG00000104728		0.602	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		-	0	40	0	G			1905070	1	tier1	-	no_errors	ENST00000398564	ensembl	human	known	74_37	nonsense	12.90	27	4	SNP	0.323	T	T	1905070	G	T	1905070	4	4	151	1	0	0	0	0	0	1	0	0	894	1349	47	3	3786	3	ARHGEF10	8	1905070	Nonsense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09		1905070	144458952	101	38466											
DOCK5	80005	genome.wustl.edu	37	chr8	25220658	25220658	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaatatgactcaaaacagGtgagacagcccatggctggc	14	7	11	9	0	1	3	1	3	0	1	1	4	1	3	1	3	2	1	1	3	4	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:25220658G>A	ENST00000276440.7	+	29	3088		c.e29+1			NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5						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)		CTCAAAACAGGTGAGACAGCC	0.443																																					Pancreas(145;34 1887 3271 10937 30165)												0													113	114	114					8																	25220658		2203	4300	6503	SO:0001630	splice_region_variant	0				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.3044+1G>A	8.37:g.25220658G>A			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Splice_Site	SNP	-	e29+1	ENST00000276440.7	37	c.3044+1	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334310	0.41297	.	.	ENSG00000147459	ENST00000276440;ENST00000444569	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1576	0.98120	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK5	25276575	1.000000	0.71417	0.998000	0.56505	0.150000	0.21749	9.429000	0.97481	2.773000	0.95371	0.650000	0.86243	.	DOCK5	-	-	ENSG00000147459		0.443	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2		0	35	0	G	NM_024940	Intron	25220658	1			no_errors	ENST00000276440	ensembl	human	known	74_37	splice_site	9.09	40	4	SNP	1.000	A	A	25220658	G	A	25220658	5	1	151	1	0	0	0	0	0	0	1	0	4704	1275	44	3	3159	3	DOCK5	8	25220658	Splice_Site	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	23315588	25220658	121143364	102	38467											
EXTL3	2137	genome.wustl.edu	37	chr8	28575272	28575272	+	Missense_Mutation	SNP	A	A	G	1	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	aggcggctggaactgaccccAacatggctgacaacggggac	11	4	14	12	2	0	2	0	2	0	0	0	4	0	4	2	6	3	2	2	6	3	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:28575272A>G	ENST00000220562.4	+	3	2598	c.1696A>G	c.(1696-1698)Aac>Gac	p.N566D	EXTL3_ENST00000523149.1_Missense_Mutation_p.N182D|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	566					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AACTGACCCCAACATGGCTGA	0.617																																																	0													49	44	46					8																	28575272		2203	4300	6503	SO:0001583	missense	0			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1696A>G	8.37:g.28575272A>G	ENSP00000220562:p.Asn566Asp		D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.N566D	ENST00000220562.4	37	c.1696	CCDS6070.1	8	.	.	.	.	.	.	.	.	.	.	A	10.01	1.234605	0.22626	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.95342	-3.29;-3.68	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.91707	0.7378	L	0.50333	1.59	0.80722	D	1	B	0.12013	0.005	B	0.15484	0.013	D	0.88303	0.2951	10	0.12103	T	0.63	-33.8008	16.4069	0.83677	1.0:0.0:0.0:0.0	.	566	O43909	EXTL3_HUMAN	D	182;566	ENSP00000428691:N182D;ENSP00000220562:N566D	ENSP00000220562:N566D	N	+	1	0	EXTL3	28631191	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	9.339000	0.96797	2.272000	0.75746	0.460000	0.39030	AAC	EXTL3	-	NULL	ENSG00000012232		0.617	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3	-	0	53	0	A	NM_001440		28575272	1	tier1	-	no_errors	ENST00000220562	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	G	G	28575272	A	G	28575272	3	3	151	1	0	0	0	0	1	0	0	0	5343	130	5	4	1698	4	EXTL3	8	28575272	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	3354614	28575272	117788750	103	38468											
NRG1	3084	genome.wustl.edu	37	chr8	32505698	32505698	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatctgaaagtgaggttcaAgttacagtgcaaggtgacaa	15	9	11	6	0	2	3	1	3	1	0	2	3	2	3	0	2	2	3	0	2	6	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:32505698A>C	ENST00000405005.3	+	5	502				NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.Q154H			Q02297	NRG1_HUMAN	neuregulin 1						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)		GTGAGGTTCAAGTTACAGTGC	0.493																																																	0													195	164	175					8																	32505698		2203	4300	6503	SO:0001627	intron_variant	0			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.502+31295A>C	8.37:g.32505698A>C			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	smart_EG-like_dom,pfscan_EG-like_dom	p.Q154H	ENST00000405005.3	37	c.462	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	A	0.975	-0.698992	0.03279	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	5.77	3.08	0.35506	.	.	.	.	.	T	0.28333	0.0700	N	0.12182	0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04294	-1.0962	8	0.18710	T	0.47	.	5.7009	0.17881	0.7235:0.0:0.1485:0.128	.	154;154	Q53F54;Q02297-10	.;.	H	154;114	.	ENSP00000433289:Q154H	Q	+	3	2	NRG1	32625240	1.000000	0.71417	0.996000	0.52242	0.334000	0.28698	1.252000	0.32874	0.412000	0.25729	0.533000	0.62120	CAA	NRG1	-	NULL	ENSG00000157168		0.493	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	42	0	A			32505698	1	tier1	-	no_errors	ENST00000520502	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.996	C	C	32505698	A	C	32505698	1	2	151	0	1	0	0	0	0	0	0	0	10686	69	3	4		4	NRG1	8	32505698	Intron	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	3930426	32505698	113858324	104	38469											
INTS8	55656	genome.wustl.edu	37	chr8	95879377	95879377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttctcataggaaccactcGttttgactattattttatca	10	18	4	9	1	2	1	2	1	1	0	4	2	2	2	1	1	1	1	1	1	5	8			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:95879377G>A	ENST00000523731.1	+	19	2438	c.2305G>A	c.(2305-2307)Gtt>Att	p.V769I	INTS8_ENST00000447247.1_Missense_Mutation_p.V769I|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	769					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GGAACCACTCGTTTTGACTAT	0.284																																																	0													83	82	82					8																	95879377		2202	4299	6501	SO:0001583	missense	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2305G>A	8.37:g.95879377G>A	ENSP00000430338:p.Val769Ile		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.V769I	ENST00000523731.1	37	c.2305	CCDS34925.1	8	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548754	0.86127	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	T;T	0.32272	1.46;1.46	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.46249	0.1383	M	0.66939	2.045	0.80722	D	1	D	0.59767	0.986	P	0.50617	0.646	T	0.42582	-0.9443	10	0.51188	T	0.08	-10.0194	19.4831	0.95018	0.0:0.0:1.0:0.0	.	769	Q75QN2	INT8_HUMAN	I	769	ENSP00000430338:V769I;ENSP00000398203:V769I	ENSP00000398203:V769I	V	+	1	0	INTS8	95948553	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.977000	0.76141	2.599000	0.87857	0.557000	0.71058	GTT	INTS8	-	NULL	ENSG00000164941		0.284	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	-	0	45	0	G	NM_017864		95879377	1	tier1	-	no_errors	ENST00000523731	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A	A	95879377	G	A	95879377	3	1	151	1	0	0	0	0	1	0	0	0	7811	1145	40	1	2379	1	INTS8	8	95879377	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	63373679	95879377	50484645	105	38470											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110453578	110453578	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcattcaactgggaatataTtcaggattaccaacaatggg	14	12	8	7	0	3	0	3	0	0	0	3	2	3	2	1	3	3	0	1	3	7	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:110453578T>C	ENST00000378402.5	+	34	4278	c.4174T>C	c.(4174-4176)Ttc>Ctc	p.F1392L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1392	IPT/TIG 7.				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)			TGGGAATATATTCAGGATTAC	0.299										HNSCC(38;0.096)																																							0													43	43	43					8																	110453578		1817	4059	5876	SO:0001583	missense	0			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.4174T>C	8.37:g.110453578T>C	ENSP00000367655:p.Phe1392Leu		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.F1392L	ENST00000378402.5	37	c.4174	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518840	0.64634	.	.	ENSG00000205038	ENST00000378402	D	0.85013	-1.93	5.38	5.38	0.77491	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.160667	0.43260	D	0.000582	T	0.77418	0.4127	L	0.39397	1.21	0.25898	N	0.983394	P	0.35527	0.507	B	0.33254	0.16	T	0.66168	-0.5991	10	0.13853	T	0.58	.	13.6355	0.62221	0.0:0.0:0.0:1.0	.	1392	Q86WI1	PKHL1_HUMAN	L	1392	ENSP00000367655:F1392L	ENSP00000367655:F1392L	F	+	1	0	PKHD1L1	110522754	0.994000	0.37717	0.928000	0.36995	0.736000	0.42039	4.261000	0.58841	2.159000	0.67721	0.528000	0.53228	TTC	PKHD1L1	-	superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.299	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	64	0	T	NM_177531		110453578	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	19.12	55	13	SNP	0.987	C	C	110453578	T	C	110453578	3	2	151	1	0	0	0	0	1	0	0	0	12011	1493	52	4	4308	4	PKHD1L1	8	110453578	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	14574201	110453578	35910444	106	38471											
MTBP	27085	genome.wustl.edu	37	chr8	121483104	121483104	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccattagtaacatactGattccacctcccaaccaact	13	11	3	14	0	0	1	0	1	0	0	2	1	2	1	5	0	5	2	5	0	6	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:121483104G>T	ENST00000305949.1	+	11	1137	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	364					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)			GTAACATACTGATTCCACCTC	0.333																																																	0													157	148	151					8																	121483104		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1092G>T	8.37:g.121483104G>T			B4DUR5|Q9HA89	Silent	SNP	NULL	p.L364	ENST00000305949.1	37	c.1092	CCDS6333.1	8																																																																																			MTBP	-	NULL	ENSG00000172167		0.333	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTBP	HGNC	protein_coding	OTTHUMT00000381530.1	-	0	55	0	G	NM_022045		121483104	1	tier1	-	no_errors	ENST00000305949	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.338	T	T	121483104	G	T	121483104	2	4	151	1	0	0	0	0	0	0	0	1	9950	1277	45	3		3	MTBP	8	121483104	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	11029526	121483104	24880918	107	38472											
FER1L6	654463	genome.wustl.edu	37	chr8	125115393	125115393	+	Missense_Mutation	SNP	T	T	C	0	1	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	tcatctctccacaggcacccTggaaatgaacctcaacagtt	12	9	6	14	0	3	1	2	1	1	0	5	2	4	2	3	2	2	2	3	2	3	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:125115393T>C	ENST00000522917.1	+	39	5338	c.5132T>C	c.(5131-5133)cTg>cCg	p.L1711P	FER1L6_ENST00000399018.1_Missense_Mutation_p.L1711P|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1711	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAGGCACCCTGGAAATGAAC	0.443																																																	0													158	155	156					8																	125115393		1897	4131	6028	SO:0001583	missense	0			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.5132T>C	8.37:g.125115393T>C	ENSP00000428280:p.Leu1711Pro			Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.L1711P	ENST00000522917.1	37	c.5132	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937535	0.73557	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.95821	-3.82;-3.82	5.58	4.43	0.53597	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.245025	0.33534	U	0.004814	D	0.97059	0.9039	M	0.75884	2.315	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.96998	0.9727	10	0.87932	D	0	-14.0752	11.7133	0.51637	0.0:0.0693:0.0:0.9307	.	1711	Q2WGJ9	FR1L6_HUMAN	P	1711	ENSP00000428280:L1711P;ENSP00000381982:L1711P	ENSP00000381982:L1711P	L	+	2	0	FER1L6	125184574	0.997000	0.39634	1.000000	0.80357	0.970000	0.65996	8.040000	0.89188	1.052000	0.40392	0.533000	0.62120	CTG	FER1L6	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000214814		0.443	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1		0	61	0	T	NM_001039112		125115393	1			no_errors	ENST00000399018	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	C	C	125115393	T	C	125115393	3	2	151	1	0	0	0	0	1	0	0	0	5837	1580	55	4	5282	4	FER1L6	8	125115393	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	3632289	125115393	21248629	108	38473											
TSTA3	7264	genome.wustl.edu	37	chr8	144697055	144697055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctcaaaggccgagtgcaGgacgttgtcgttcatgtgca	9	9	12	11	3	2	0	2	0	0	0	3	2	2	1	2	2	2	4	2	2	1	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:144697055G>T	ENST00000425753.2	-	4	395	c.292C>A	c.(292-294)Ctg>Atg	p.L98M	TSTA3_ENST00000529064.1_Missense_Mutation_p.L98M	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	98					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCGAGTGCAGGACGTTGTCG	0.602																																																	0													124	100	108					8																	144697055		2203	4300	6503	SO:0001583	missense	0			U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.292C>A	8.37:g.144697055G>T	ENSP00000398803:p.Leu98Met		B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct	p.L98M	ENST00000425753.2	37	c.292	CCDS6408.1	8	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698958	0.68501	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817;ENST00000526290	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	5.03	4.16	0.48862	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	M	0.80616	2.505	0.80722	D	1	D;D	0.60575	0.988;0.976	D;P	0.65323	0.934;0.817	D	0.97090	0.9790	10	0.72032	D	0.01	-14.9114	11.9213	0.52793	0.0853:0.0:0.9147:0.0	.	98;98	B4DZW9;Q13630	.;FCL_HUMAN	M	98	ENSP00000435386:L98M;ENSP00000398803:L98M;ENSP00000431587:L98M;ENSP00000437012:L98M;ENSP00000433331:L98M	ENSP00000398803:L98M	L	-	1	2	TSTA3	144768198	1.000000	0.71417	0.991000	0.47740	0.463000	0.32649	5.353000	0.66034	1.120000	0.41904	0.467000	0.42956	CTG	TSTA3	-	pfam_Epimerase_deHydtase	ENSG00000104522		0.602	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTA3	HGNC	protein_coding	OTTHUMT00000382263.1	-	0	42	0	G	NM_003313		144697055	-1	tier1	-	no_errors	ENST00000425753	ensembl	human	known	74_37	missense	8.51	42	4	SNP	1.000	T	T	144697055	G	T	144697055	3	4	151	1	0	0	0	0	1	0	0	0	16722	991	35	3	705	3	TSTA3	8	144697055	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	19581662	144697055	1666967	109	38474											
SMARCA2	6595	genome.wustl.edu	37	chr9	2182150	2182150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttccatcaggaaaggattCgtaatcataagtaccggagc	14	10	9	8	2	2	0	2	0	0	0	4	3	3	3	2	3	2	2	2	3	4	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:2182150C>T	ENST00000382203.1	+	31	4578	c.4369C>T	c.(4369-4371)Cgt>Tgt	p.R1457C	SMARCA2_ENST00000302401.3_Missense_Mutation_p.R145C|SMARCA2_ENST00000324954.5_Missense_Mutation_p.R103C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1439C|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1439C|SMARCA2_ENST00000382185.1_Missense_Mutation_p.R103C|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1457C|SMARCA2_ENST00000382186.1_Missense_Mutation_p.R121C			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1457	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)	p.R1453C(1)		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)		GGAAAGGATTCGTAATCATAA	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)											131	130	130					9																	2182150		2203	4300	6503	SO:0001583	missense	0			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.4369C>T	9.37:g.2182150C>T	ENSP00000371638:p.Arg1457Cys		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R1457C	ENST00000382203.1	37	c.4369	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168750	0.38315	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194;ENST00000452193;ENST00000302401;ENST00000324954;ENST00000423555;ENST00000382186;ENST00000417599;ENST00000382185;ENST00000382183;ENST00000416751	T;T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.84	5.84	0.93424	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	M	0.67700	2.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.996;0.998	T	0.57464	-0.7807	10	0.87932	D	0	-11.9829	20.1579	0.98126	0.0:1.0:0.0:0.0	.	143;145;1439;1457	B4DNT1;B1ALF6;P51531-2;P51531	.;.;.;SMCA2_HUMAN	C	1457;1439;1457;1439;121;145;103;143;121;143;103;103;103	ENSP00000265773:R1457C;ENSP00000349788:R1439C;ENSP00000371638:R1457C;ENSP00000371629:R1439C;ENSP00000401096:R121C;ENSP00000305411:R145C;ENSP00000324770:R103C;ENSP00000413057:R143C;ENSP00000371621:R121C;ENSP00000387486:R143C;ENSP00000371620:R103C;ENSP00000371618:R103C;ENSP00000412242:R103C	ENSP00000305411:R145C	R	+	1	0	SMARCA2	2172150	0.994000	0.37717	0.961000	0.40146	0.115000	0.19883	3.196000	0.51020	2.767000	0.95098	0.555000	0.69702	CGT	SMARCA2	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000080503		0.443	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1		0	35	0	C	NM_003070		2182150	1			no_errors	ENST00000349721	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.997	T	T	2182150	C	T	2182150	3	4	151	1	0	0	0	0	1	0	0	0	14814	884	31	1	4487	1	SMARCA2	9	2182150	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09		2182150	139031281	110	38475											
RFX3	5991	genome.wustl.edu	37	chr9	3330319	3330319	+	Silent	SNP	G	G	T	0	0	1	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	ccagaattctccattgagttGccgatcagataggttcctcc	9	12	8	12	1	2	3	1	1	1	2	5	4	4	3	5	1	1	2	5	1	2	5	rs540836639		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:3330319G>T	ENST00000382004.3	-	5	725	c.414C>A	c.(412-414)ggC>ggA	p.G138G	RFX3_ENST00000358730.2_Silent_p.G138G|RFX3_ENST00000302303.1_Silent_p.G138G	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	138					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CCATTGAGTTGCCGATCAGAT	0.488													G|||	1	0.000199681	0	0	5008	,	,		16511	0.001		0	False		,,,				2504	0																0													114	93	100					9																	3330319		2203	4300	6503	SO:0001819	synonymous_variant	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.414C>A	9.37:g.3330319G>T			A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.G138	ENST00000382004.3	37	c.414	CCDS6449.1	9																																																																																			RFX3	-	pfam_RFX1_trans_act	ENSG00000080298		0.488	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	-	0	73	0	G	NM_002919		3330319	-1	tier1	-	no_errors	ENST00000382004	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T	T	3330319	G	T	3330319	2	4	151	1	0	0	0	0	0	0	0	1	13309	1306	46	3		3	RFX3	9	3330319	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	1148169	3330319	137883112	111	38476											
C9orf68	55064	genome.wustl.edu	37	chr9	4661989	4661989	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcatgaggtagaccccGaggtacacatcttgtttgcc	9	12	10	10	1	2	3	1	2	1	1	2	4	2	3	3	2	2	3	3	2	2	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:4661989G>T	ENST00000454239.2	-	3	332	c.87C>A	c.(85-87)ctC>ctA	p.L29L	SPATA6L_ENST00000381895.5_5'UTR|SPATA6L_ENST00000475086.1_Silent_p.L29L|SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381890.5_Silent_p.L29L|PPAPDC2_ENST00000381883.2_5'Flank			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	29																	GGTAGACCCCGAGGTACACAT	0.438											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90	83	85					9																	4661989		1877	4114	5991	SO:0001819	synonymous_variant	0			AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 68"	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.87C>A	9.37:g.4661989G>T		620	B4DIY4|Q5JVJ5|Q8IY90	Silent	SNP	NULL	p.L29	ENST00000454239.2	37	c.87		9																																																																																			SPATA6L	-	NULL	ENSG00000106686		0.438	SPATA6L-202	KNOWN	basic	protein_coding	SPATA6L	HGNC	protein_coding			0	23	0	G	NM_017985		4661989	-1			no_errors	ENST00000454239	ensembl	human	known	74_37	silent	16.67	10	2	SNP	0.545	T	T	4661989	G	T	4661989	2	4	151	1	0	0	0	0	0	0	0	1	2498	1045	37	2		2	C9orf68	9	4661989	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	1331670	4661989	136551442	112	38477											
SH3GL2	6456	genome.wustl.edu	37	chr9	17787381	17787381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttattctctcctaggccCagcacttggtgaggtcgggg	5	12	13	11	1	1	1	0	1	1	0	4	1	2	1	2	5	1	2	2	5	2	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:17787381C>T	ENST00000380607.4	+	5	455	c.335C>T	c.(334-336)cCa>cTa	p.P112L	SH3GL2_ENST00000537391.1_Missense_Mutation_p.P65L	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	112	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CTCCTAGGCCCAGCACTTGGT	0.468																																																	0													104	104	104					9																	17787381		2203	4300	6503	SO:0001583	missense	0			X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.335C>T	9.37:g.17787381C>T	ENSP00000369981:p.Pro112Leu		B2R618|Q9NQK5	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.P112L	ENST00000380607.4	37	c.335	CCDS6483.1	9	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028364	0.35797	.	.	ENSG00000107295	ENST00000397481;ENST00000380607;ENST00000537391	T;T	0.63096	-0.02;-0.02	5.85	5.85	0.93711	BAR (3);	0.188998	0.47852	N	0.000213	T	0.34366	0.0895	N	0.01505	-0.83	0.52501	D	0.999955	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.29027	-1.0025	10	0.26408	T	0.33	.	13.3763	0.60741	0.0:0.9282:0.0:0.0718	.	77;112	B7Z7W3;Q99962	.;SH3G2_HUMAN	L	90;112;65	ENSP00000369981:P112L;ENSP00000443365:P65L	ENSP00000369981:P112L	P	+	2	0	SH3GL2	17777381	0.176000	0.23096	1.000000	0.80357	0.988000	0.76386	1.830000	0.39131	2.757000	0.94681	0.650000	0.86243	CCA	SH3GL2	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom	ENSG00000107295		0.468	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL2	HGNC	protein_coding	OTTHUMT00000051796.1	-	0	67	0	C	NM_003026		17787381	1	tier1	-	no_errors	ENST00000380607	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	17787381	C	T	17787381	3	4	151	1	0	0	0	0	1	0	0	0	14296	594	21	3	353	3	SH3GL2	9	17787381	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	13125392	17787381	123426050	113	38478											
GOLM1	51280	genome.wustl.edu	37	chr9	88648293	88648293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagtcatcttctcctctcaGtttctgctggtttctccctg	3	18	7	13	0	6	0	2	0	5	0	9	0	6	0	2	1	1	4	2	1	1	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:88648293G>T	ENST00000388712.3	-	9	1201	c.1033C>A	c.(1033-1035)Ctg>Atg	p.L345M	GOLM1_ENST00000388711.3_Missense_Mutation_p.L345M|GOLM1_ENST00000257504.6_5'Flank	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	345					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.L345L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TCTCCTCTCAGTTTCTGCTGG	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											203	169	180					9																	88648293		2203	4299	6502	SO:0001583	missense	0			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.1033C>A	9.37:g.88648293G>T	ENSP00000373364:p.Leu345Met		Q6IAF4|Q9NRB9	Missense_Mutation	SNP	NULL	p.L345M	ENST00000388712.3	37	c.1033	CCDS35054.1	9	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542263	0.65198	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.51071	0.72;0.72	4.79	0.404	0.16355	.	0.880500	0.09710	N	0.765858	T	0.41003	0.1140	L	0.47716	1.5	0.09310	N	1	P	0.44195	0.828	P	0.45138	0.471	T	0.27673	-1.0067	10	0.51188	T	0.08	-28.0831	3.4952	0.07653	0.0965:0.3404:0.4102:0.1529	.	345	Q8NBJ4	GOLM1_HUMAN	M	345	ENSP00000373364:L345M;ENSP00000373363:L345M	ENSP00000373363:L345M	L	-	1	2	GOLM1	87838113	0.000000	0.05858	0.000000	0.03702	0.815000	0.46073	-0.028000	0.12350	-0.099000	0.12263	0.655000	0.94253	CTG	GOLM1	-	NULL	ENSG00000135052		0.428	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	HGNC	protein_coding	OTTHUMT00000052904.2		0	34	0	G	NM_177937		88648293	-1			no_errors	ENST00000388711	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	T	T	88648293	G	T	88648293	3	4	151	1	0	0	0	0	1	0	0	0	6593	1020	36	3	180	3	GOLM1	9	88648293	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	70860912	88648293	52565138	114	38479											
ZBTB6	10773	genome.wustl.edu	37	chr9	125674188	125674188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgatctctcataaaagtgGagcaagcagccaaaatcacc	16	7	7	11	0	3	1	2	1	1	0	4	2	3	2	2	1	3	2	2	1	5	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:125674188G>T	ENST00000373659.3	-	2	252	c.164C>A	c.(163-165)tCc>tAc	p.S55Y		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	55	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)	p.S55C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						CATAAAAGTGGAGCAAGCAGC	0.373																																																	1	Substitution - Missense(1)	breast(1)											113	119	117					9																	125674188		2203	4300	6503	SO:0001583	missense	0			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16764	protein-coding gene	gene with protein product		605976	"zinc finger protein 482"	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.164C>A	9.37:g.125674188G>T	ENSP00000362763:p.Ser55Tyr		A8K8N6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S55Y	ENST00000373659.3	37	c.164	CCDS6846.1	9	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076092	0.76415	.	.	ENSG00000186130	ENST00000373659	D	0.85955	-2.05	6.17	6.17	0.99709	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.95720	0.8608	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96399	0.9295	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	55	Q15916	ZBTB6_HUMAN	Y	55	ENSP00000362763:S55Y	ENSP00000362763:S55Y	S	-	2	0	ZBTB6	124714009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	TCC	ZBTB6	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000186130		0.373	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1		0	30	0	G	NM_006626		125674188	-1			no_errors	ENST00000373659	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	T	T	125674188	G	T	125674188	3	4	151	1	0	0	0	0	1	0	0	0	17600	1174	41	3	1114	3	ZBTB6	9	125674188	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	37025895	125674188	15539243	115	38480											
PIP5KL1	138429	genome.wustl.edu	37	chr9	130687414	130687414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggaagatgaggctgctgcCcgggcccctctcatcctcgt	5	8	13	15	3	1	2	1	1	1	1	4	3	2	3	4	3	2	2	4	3	1	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:130687414C>T	ENST00000388747.4	-	9	933	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	PIP5KL1_ENST00000300432.3_Missense_Mutation_p.G94S|PIP5KL1_ENST00000490773.1_Intron	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	297	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						AGGCTGCTGCCCGGGCCCCTC	0.602																																																	0													73	77	76					9																	130687414		2203	4300	6503	SO:0001583	missense	0			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.889G>A	9.37:g.130687414C>T	ENSP00000373399:p.Gly297Ser		Q8IVS3	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.G94S	ENST00000388747.4	37	c.280	CCDS48030.1	9	.	.	.	.	.	.	.	.	.	.	C	5.384	0.256061	0.10185	.	.	ENSG00000167103	ENST00000388747;ENST00000300432	T;T	0.34072	1.38;1.38	4.83	1.91	0.25777	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	0.797250	0.11661	N	0.541812	T	0.12646	0.0307	N	0.02412	-0.56	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.33420	-0.9869	10	0.08179	T	0.78	-5.8579	7.0862	0.25259	0.0:0.6099:0.0:0.3901	.	297	Q5T9C9	PI5L1_HUMAN	S	297;94	ENSP00000373399:G297S;ENSP00000300432:G94S	ENSP00000300432:G94S	G	-	1	0	PIP5KL1	129727235	0.000000	0.05858	0.001000	0.08648	0.168000	0.22595	0.213000	0.17521	0.550000	0.28991	0.491000	0.48974	GGC	PIP5KL1	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000167103		0.602	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PIP5KL1	HGNC	protein_coding	OTTHUMT00000054289.2	-	0	51	0	C	NM_173492		130687414	-1	tier1	-	no_errors	ENST00000300432	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.024	T	T	130687414	C	T	130687414	3	4	151	1	0	0	0	0	1	0	0	0	11981	623	22	3	303	3	PIP5KL1	9	130687414	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	5013226	130687414	10526017	116	38481											
NTNG2	84628	genome.wustl.edu	37	chr9	135102326	135102326	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaccaccggccccgactgCggcaagtgcaagaagaattt	13	5	10	13	3	0	2	0	0	0	2	0	3	0	2	4	2	3	2	4	2	5	1	rs200407107		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:135102326C>T	ENST00000393229.3	+	4	1724	c.948C>T	c.(946-948)tgC>tgT	p.C316C	NTNG2_ENST00000393228.4_Silent_p.C316C|NTNG2_ENST00000360670.3_Silent_p.C316C|NTNG2_ENST00000372179.3_Silent_p.C316C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	316	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCCCGACTGCGGCAAGTGCA	0.677																																																	0													47	42	44					9																	135102326		2203	4298	6501	SO:0001819	synonymous_variant	0			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.948C>T	9.37:g.135102326C>T			Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.C316	ENST00000393229.3	37	c.948	CCDS6946.1	9																																																																																			NTNG2	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000196358		0.677	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	-	0	111	0	C	NM_032536		135102326	1	tier1	rs200407107	no_errors	ENST00000360670	ensembl	human	known	74_37	silent	65.22	24	45	SNP	0.994	T	T	135102326	C	T	135102326	2	4	151	1	0	0	0	0	0	0	0	1	10744	776	27	1		1	NTNG2	9	135102326	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	4414912	135102326	6111105	117	38482											
C9orf116	138162	genome.wustl.edu	37	chr9	138387449	138387449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaaatttattcgaatttgGataaaatactttctataaga	17	15	6	3	1	1	1	0	0	1	1	2	4	1	3	0	2	1	0	0	2	9	9			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:138387449G>T	ENST00000429260.2	-	3	255	c.235C>A	c.(235-237)Cca>Aca	p.P79T	C9orf116_ENST00000371791.1_Intron|C9orf116_ENST00000371789.3_Intron	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	79															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		TTCGAATTTGGATAAAATACT	0.358																																																	0													64	60	62					9																	138387449		2203	4300	6503	SO:0001583	missense	0			BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"p53-induced expression 1 in Rb&#8722;/&#8722; cells"	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.235C>A	9.37:g.138387449G>T	ENSP00000395281:p.Pro79Thr		Q5T897|Q8WU44	Missense_Mutation	SNP	NULL	p.P79T	ENST00000429260.2	37	c.235	CCDS43899.1	9	.	.	.	.	.	.	.	.	.	.	G	9.144	1.014464	0.19277	.	.	ENSG00000160345	ENST00000429260	.	.	.	5.03	1.79	0.24919	.	0.326738	0.27622	N	0.018541	T	0.39911	0.1096	M	0.72118	2.19	0.09310	N	1	B	0.16396	0.017	B	0.19946	0.027	T	0.25676	-1.0125	9	0.27785	T	0.31	-0.3664	4.1086	0.10049	0.0957:0.132:0.5788:0.1935	.	79	Q5BN46	CI116_HUMAN	T	79	.	ENSP00000395281:P79T	P	-	1	0	C9orf116	137527270	0.004000	0.15560	0.116000	0.21606	0.400000	0.30750	0.300000	0.19156	0.508000	0.28173	0.650000	0.86243	CCA	C9orf116	-	NULL	ENSG00000160345		0.358	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf116	HGNC	protein_coding	OTTHUMT00000054985.2		0	57	0	G	NM_144654		138387449	-1			no_errors	ENST00000429260	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.015	T	T	138387449	G	T	138387449	3	4	151	1	0	0	0	0	1	0	0	0	2457	1174	41	3	179	3	C9orf116	9	138387449	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	3285123	138387449	2825982	118	38483											
NEBL	10529	genome.wustl.edu	37	chr10	21112176	21112176	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctttaactctctttagTtctggaggatcagaaatggc	9	17	8	7	0	4	1	1	0	3	1	5	3	4	3	0	3	1	1	0	3	3	7			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:21112176T>C	ENST00000377122.4	-	19	2319	c.1923A>G	c.(1921-1923)gaA>gaG	p.E641E	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	641					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						CTCTCTTTAGTTCTGGAGGAT	0.299																																																	0													115	109	111					10																	21112176		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1923A>G	10.37:g.21112176T>C			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.E641	ENST00000377122.4	37	c.1923	CCDS7134.1	10																																																																																			NEBL	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000078114		0.299	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	-	0	51	0	T	NM_006393		21112176	-1	tier1	-	no_errors	ENST00000377122	ensembl	human	known	74_37	silent	13.79	50	8	SNP	0.988	C	C	21112176	T	C	21112176	2	2	151	1	0	0	0	0	0	0	0	1	10342	1722	60	4		4	NEBL	10	21112176	Silent	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09		21112176	114422571	119	38484											
GPR158	57512	genome.wustl.edu	37	chr10	25887338	25887338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagcaggtgtggaagaacGcactaaatcccagaaacctt	16	6	9	10	1	0	2	0	0	0	2	1	3	1	3	2	2	4	2	2	2	6	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:25887338G>A	ENST00000376351.3	+	11	3142	c.2783G>A	c.(2782-2784)cGc>cAc	p.R928H	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	928					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)	p.R928H(1)		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						GTGGAAGAACGCACTAAATCC	0.438																																																	1	Substitution - Missense(1)	endometrium(1)											127	140	136					10																	25887338		2203	4300	6503	SO:0001583	missense	0			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.2783G>A	10.37:g.25887338G>A	ENSP00000365529:p.Arg928His		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.R928H	ENST00000376351.3	37	c.2783	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243616	0.22796	.	.	ENSG00000151025	ENST00000376351	T	0.31510	1.49	5.52	3.65	0.41850	.	0.368550	0.25726	N	0.028709	T	0.28167	0.0695	L	0.44542	1.39	0.09310	N	1	D	0.53312	0.959	P	0.46237	0.508	T	0.09552	-1.0669	10	0.48119	T	0.1	.	7.9753	0.30151	0.1412:0.1295:0.7293:0.0	.	928	Q5T848	GP158_HUMAN	H	928	ENSP00000365529:R928H	ENSP00000365529:R928H	R	+	2	0	GPR158	25927344	0.001000	0.12720	0.030000	0.17652	0.136000	0.21042	0.881000	0.28173	1.328000	0.45358	0.650000	0.86243	CGC	GPR158	-	NULL	ENSG00000151025		0.438	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2		0	25	0	G	XM_166110		25887338	1			no_errors	ENST00000376351	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.003	A	A	25887338	G	A	25887338	3	1	151	1	0	0	0	0	1	0	0	0	6689	1087	38	1	2825	1	GPR158	10	25887338	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	4775162	25887338	109647409	120	38485											
SVIL	6840	genome.wustl.edu	37	chr10	29777621	29777621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgctccgcaggctgacgttGctgaagttttctttactggc	6	13	11	11	3	1	2	0	2	1	0	2	2	2	2	1	2	2	6	1	2	2	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:29777621G>T	ENST00000355867.4	-	23	5009	c.4257C>A	c.(4255-4257)agC>agA	p.S1419R	SVIL_ENST00000535393.1_Missense_Mutation_p.S333R|SVIL_ENST00000375400.3_Missense_Mutation_p.S993R|SVIL_ENST00000375398.2_Missense_Mutation_p.S1419R|SVIL_ENST00000538146.1_Missense_Mutation_p.S211R|PTCHD3P1_ENST00000413405.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1419	Interaction with NEB.				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)	p.S1419S(1)		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)				GGCTGACGTTGCTGAAGTTTT	0.507																																																	1	Substitution - coding silent(1)	urinary_tract(1)											52	44	47					10																	29777621		2203	4297	6500	SO:0001583	missense	0			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.4257C>A	10.37:g.29777621G>T	ENSP00000348128:p.Ser1419Arg		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.S1419R	ENST00000355867.4	37	c.4257	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950586	0.92660	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;D	0.86297	2.57;2.58;2.58;2.48;-2.1	4.92	4.92	0.64577	.	0.036689	0.85682	D	0.000000	D	0.88284	0.6395	M	0.74881	2.28	0.58432	D	0.999998	B;B;B;B	0.34015	0.036;0.138;0.371;0.435	B;B;B;B	0.36134	0.073;0.071;0.198;0.218	D	0.88833	0.3307	10	0.59425	D	0.04	-24.3161	18.3624	0.90379	0.0:0.0:1.0:0.0	.	333;211;993;1419	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	R	993;1419;1419;333;373;211	ENSP00000364549:S993R;ENSP00000364547:S1419R;ENSP00000348128:S1419R;ENSP00000445472:S333R;ENSP00000440343:S211R	ENSP00000348128:S1419R	S	-	3	2	SVIL	29817627	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.448000	0.66612	2.577000	0.86979	0.485000	0.47835	AGC	SVIL	-	NULL	ENSG00000197321		0.507	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1		0	45	0	G			29777621	-1			no_errors	ENST00000355867	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	29777621	G	T	29777621	3	4	151	1	0	0	0	0	1	0	0	0	15468	1310	46	3	2451	3	SVIL	10	29777621	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	3890283	29777621	105757126	121	38486											
DLG5	9231	genome.wustl.edu	37	chr10	79576821	79576821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgatgggattttaatgCgttccgccttgaactgcaag	8	14	12	7	2	0	2	0	2	0	0	1	3	1	3	2	1	3	3	2	1	3	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:79576821C>T	ENST00000372391.2	-	19	3823	c.3818G>A	c.(3817-3819)cGc>cAc	p.R1273H	DLG5_ENST00000372388.2_Missense_Mutation_p.R933H|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1273					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GATTTTAATGCGTTCCGCCTT	0.498																																																	0													206	182	190					10																	79576821		2203	4300	6503	SO:0001583	missense	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3818G>A	10.37:g.79576821C>T	ENSP00000361467:p.Arg1273His		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R1273H	ENST00000372391.2	37	c.3818	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	C	34	5.380721	0.95945	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.10099	2.91;3.2;3.26	5.55	5.55	0.83447	.	0.000000	0.39020	N	0.001485	T	0.29817	0.0745	L	0.47190	1.495	0.47905	D	0.999549	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.997;0.966	T	0.00589	-1.1656	10	0.72032	D	0.01	.	19.518	0.95171	0.0:1.0:0.0:0.0	.	1163;1273;933	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	H	1273;234;933	ENSP00000361467:R1273H;ENSP00000394797:R234H;ENSP00000361464:R933H	ENSP00000361464:R933H	R	-	2	0	DLG5	79246827	1.000000	0.71417	0.998000	0.56505	0.871000	0.50021	7.294000	0.78760	2.615000	0.88500	0.650000	0.86243	CGC	DLG5	-	NULL	ENSG00000151208		0.498	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2		0	37	0	C			79576821	-1			no_errors	ENST00000372391	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	79576821	C	T	79576821	3	4	151	1	0	0	0	0	1	0	0	0	4572	768	27	1	1997	1	DLG5	10	79576821	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	49799200	79576821	55957926	122	38487											
DLG5	9231	genome.wustl.edu	37	chr10	79595550	79595550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggaaggcccagtccCgccggcacttggccacatcc	6	6	11	18	2	0	0	0	0	0	0	3	1	3	1	6	4	0	2	6	4	1	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:79595550C>T	ENST00000372391.2	-	8	1573	c.1568G>A	c.(1567-1569)cGg>cAg	p.R523Q	DLG5_ENST00000372388.2_Missense_Mutation_p.R523Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	523					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGCCCAGTCCCGCCGGCACTT	0.602																																																	0													76	62	67					10																	79595550		2203	4300	6503	SO:0001583	missense	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1568G>A	10.37:g.79595550C>T	ENSP00000361467:p.Arg523Gln		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R523Q	ENST00000372391.2	37	c.1568	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	C	36	5.626822	0.96671	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.10099	2.91;2.97	5.8	5.8	0.92144	.	0.000000	0.35615	N	0.003097	T	0.35068	0.0919	M	0.69358	2.11	0.41804	D	0.989939	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.933	T	0.01570	-1.1322	10	0.66056	D	0.02	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	413;523;523	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	Q	523	ENSP00000361467:R523Q;ENSP00000361464:R523Q	ENSP00000361464:R523Q	R	-	2	0	DLG5	79265556	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.487000	0.81328	2.735000	0.93741	0.655000	0.94253	CGG	DLG5	-	NULL	ENSG00000151208		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	-	0	40	0	C			79595550	-1	tier1	-	no_errors	ENST00000372391	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	T	T	79595550	C	T	79595550	3	4	151	1	0	0	0	0	1	0	0	0	4572	652	23	1	4291	1	DLG5	10	79595550	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	18729	79595550	55939197	123	38488											
FAM190B	54462	genome.wustl.edu	37	chr10	86132008	86132008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgacatttccttgtcGtctttgtcatcttctgataa	7	18	8	8	1	4	2	1	2	3	0	6	3	5	3	1	1	0	0	1	1	1	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:86132008G>A	ENST00000224756.8	+	2	1385	c.1200G>A	c.(1198-1200)tcG>tcA	p.S400S	CCSER2_ENST00000359979.4_Silent_p.S400S|CCSER2_ENST00000372088.2_Silent_p.S400S	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	400					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.S400S(1)									TTTCCTTGTCGTCTTTGTCAT	0.328																																																	1	Substitution - coding silent(1)	large_intestine(1)											106	103	104					10																	86132008		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1200G>A	10.37:g.86132008G>A			B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Silent	SNP	NULL	p.S400	ENST00000224756.8	37	c.1200	CCDS31235.1	10																																																																																			CCSER2	-	NULL	ENSG00000107771		0.328	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER2	HGNC	protein_coding	OTTHUMT00000049132.2	-	0	44	0	G	NM_018999		86132008	1	tier1	-	no_errors	ENST00000372088	ensembl	human	known	74_37	silent	59.26	11	16	SNP	0.519	A	A	86132008	G	A	86132008	2	1	151	1	0	0	0	0	0	0	0	1	5541	1132	40	1		1	FAM190B	10	86132008	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	6536458	86132008	49402739	124	38489											
CEP55	55165	genome.wustl.edu	37	chr10	95287726	95287726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaacagcttcatgagtttgCcatcacagagccattagtca	13	10	8	10	0	3	2	3	1	0	1	3	3	3	2	2	0	4	2	2	0	2	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:95287726C>T	ENST00000371485.3	+	9	1515	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	404	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				CATGAGTTTGCCATCACAGAG	0.383																																																	0													65	66	66					10																	95287726		2203	4300	6503	SO:0001583	missense	0			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"cancer/testis antigen 111"	610000	"chromosome 10 open reading frame 3"	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.1211C>T	10.37:g.95287726C>T	ENSP00000360540:p.Ala404Val		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	pfam_EABR	p.A404V	ENST00000371485.3	37	c.1211	CCDS7428.1	10	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646852	0.29246	.	.	ENSG00000138180	ENST00000371485	T	0.18016	2.24	6.04	3.87	0.44632	.	0.306460	0.34460	N	0.003960	T	0.10078	0.0247	N	0.16478	0.41	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.20240	-1.0281	10	0.36615	T	0.2	0.1495	9.3657	0.38223	0.0:0.5813:0.3358:0.0829	.	404	Q53EZ4	CEP55_HUMAN	V	404	ENSP00000360540:A404V	ENSP00000360540:A404V	A	+	2	0	CEP55	95277716	0.331000	0.24713	0.977000	0.42913	0.958000	0.62258	1.624000	0.37018	1.556000	0.49512	0.561000	0.74099	GCC	CEP55	-	NULL	ENSG00000138180		0.383	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP55	HGNC	protein_coding	OTTHUMT00000049434.1	-	0	51	0	C	NM_018131		95287726	1	tier1	-	no_errors	ENST00000371485	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.068	T	T	95287726	C	T	95287726	3	4	151	1	0	0	0	0	1	0	0	0	3262	739	26	3	1241	3	CEP55	10	95287726	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	9155718	95287726	40247021	125	38490											
DNMBP	23268	genome.wustl.edu	37	chr10	101654708	101654708	+	Missense_Mutation	SNP	T	T	C	0	1	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	gatgttgatgctcacccggaTgtgctggaggtagagagaca	10	9	15	7	1	1	3	1	1	0	2	1	7	1	5	1	3	2	4	1	3	1	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:101654708T>C	ENST00000324109.4	-	11	3242	c.3151A>G	c.(3151-3153)Atc>Gtc	p.I1051V	DNMBP_ENST00000543621.1_Missense_Mutation_p.I297V|DNMBP_ENST00000342239.3_Missense_Mutation_p.I1075V|DNMBP_ENST00000540316.1_5'UTR	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1051	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTCACCCGGATGTGCTGGAGG	0.368																																																	0													132	111	118					10																	101654708		2203	4300	6503	SO:0001583	missense	0			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.3151A>G	10.37:g.101654708T>C	ENSP00000315659:p.Ile1051Val		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.I1075V	ENST00000324109.4	37	c.3223	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	T	13.30	2.195406	0.38806	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.64803	-0.12;-0.12;-0.12	5.77	5.77	0.91146	BAR (3);	0.000000	0.50627	D	0.000120	T	0.43010	0.1228	N	0.24115	0.695	0.80722	D	1	B;B;B	0.29253	0.239;0.005;0.239	B;B;B	0.33454	0.164;0.023;0.164	T	0.36237	-0.9756	10	0.08599	T	0.76	-21.8613	6.5391	0.22370	0.0:0.1934:0.0:0.8066	.	1051;297;1075	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	V	1075;1051;297;297	ENSP00000344914:I1075V;ENSP00000315659:I1051V;ENSP00000443657:I297V	ENSP00000315659:I1051V	I	-	1	0	DNMBP	101644698	0.991000	0.36638	1.000000	0.80357	0.938000	0.57974	2.384000	0.44362	2.201000	0.70794	0.528000	0.53228	ATC	DNMBP	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000107554		0.368	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	-	0	43	0	T	NM_015221		101654708	-1	tier1	-	no_errors	ENST00000342239	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	C	C	101654708	T	C	101654708	3	2	151	1	0	0	0	0	1	0	0	0	4688	1464	51	4	1610	4	DNMBP	10	101654708	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	6366982	101654708	33880039	126	38491											
LBX1	10660	genome.wustl.edu	37	chr10	102987359	102987359	+	Missense_Mutation	SNP	A	A	G	1	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	agcgcgccgattctggaaccAggtgatgacttgcgcgttgg	7	9	15	10	5	1	2	0	2	1	0	1	4	1	3	2	3	3	1	2	3	1	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:102987359A>G	ENST00000370193.2	-	2	1492	c.514T>C	c.(514-516)Tgg>Cgg	p.W172R	LBX1-AS1_ENST00000546988.1_RNA|LBX1-AS1_ENST00000547077.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	172					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TTCTGGAACCAGGTGATGACT	0.592																																																	0													80	82	82					10																	102987359		2203	4300	6503	SO:0001583	missense	0			X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"Homeoboxes / ANTP class : NKL subclass"	16960	protein-coding gene	gene with protein product		604255	"ladybird homeobox homolog 1 (Drosophila)"			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.514T>C	10.37:g.102987359A>G	ENSP00000359212:p.Trp172Arg		B9EGA2|Q05BB2	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.W172R	ENST00000370193.2	37	c.514	CCDS31270.1	10	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334071	0.81801	.	.	ENSG00000138136	ENST00000370193	D	0.99822	-6.94	5.61	5.61	0.85477	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99917	0.9961	H	0.99732	4.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95902	0.8916	10	0.87932	D	0	.	15.4696	0.75432	1.0:0.0:0.0:0.0	.	172	P52954	LBX1_HUMAN	R	172	ENSP00000359212:W172R	ENSP00000359212:W172R	W	-	1	0	LBX1	102977349	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.271000	0.95698	2.138000	0.66242	0.459000	0.35465	TGG	LBX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	ENSG00000138136		0.592	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBX1	HGNC	protein_coding	OTTHUMT00000049928.3	-	0	53	0	A	NM_006562		102987359	-1	tier1	-	no_errors	ENST00000370193	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	G	G	102987359	A	G	102987359	3	3	151	1	0	0	0	0	1	0	0	0	8681	188	7	4	335	4	LBX1	10	102987359	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	1332651	102987359	32547388	127	38492											
HSPA12A	259217	genome.wustl.edu	37	chr10	118451962	118451962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctcgaactccgaacccGcctggtcactcagctcctga	8	9	8	16	3	3	1	2	1	1	0	6	3	5	1	4	1	3	2	4	1	2	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:118451962G>A	ENST00000369209.3	-	6	667	c.563C>T	c.(562-564)gCg>gTg	p.A188V		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	188						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)		CTCCGAACCCGCCTGGTCACT	0.572																																																	0													124	134	131					10																	118451962		2166	4290	6456	SO:0001583	missense	0			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.563C>T	10.37:g.118451962G>A	ENSP00000358211:p.Ala188Val			Missense_Mutation	SNP	NULL	p.A188V	ENST00000369209.3	37	c.563	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817936	0.32145	.	.	ENSG00000165868	ENST00000369209	T	0.03124	4.04	5.79	4.89	0.63831	.	0.101114	0.64402	D	0.000002	T	0.03477	0.0100	L	0.31065	0.9	0.49798	D	0.999828	B	0.26258	0.145	B	0.25987	0.065	T	0.51403	-0.8710	10	0.16896	T	0.51	.	11.5182	0.50536	0.0683:0.1897:0.742:0.0	.	188	O43301	HS12A_HUMAN	V	188	ENSP00000358211:A188V	ENSP00000358211:A188V	A	-	2	0	HSPA12A	118441952	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	4.331000	0.59273	1.468000	0.48064	0.650000	0.86243	GCG	HSPA12A	-	NULL	ENSG00000165868		0.572	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	-	0	41	0	G	NM_025015		118451962	-1	tier1	-	no_errors	ENST00000369209	ensembl	human	known	74_37	missense	49.06	27	26	SNP	0.998	A	A	118451962	G	A	118451962	3	1	151	1	0	0	0	0	1	0	0	0	7431	1087	38	1	1492	1	HSPA12A	10	118451962	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	15464603	118451962	17082785	128	38493											
DOCK1	1793	genome.wustl.edu	37	chr10	128830467	128830467	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccacgaaggcagagttgGaagaaaagggccactcggcc	12	4	13	12	2	0	2	0	0	0	2	2	4	1	3	4	4	0	2	4	4	4	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:128830467G>T	ENST00000280333.6	+	18	1841	c.1732G>T	c.(1732-1734)Gaa>Taa	p.E578*		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	578	DHR-1.				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)		GGCAGAGTTGGAAGAAAAGGG	0.557																																																	0													27	28	28					10																	128830467		2113	4232	6345	SO:0001587	stop_gained	0			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.1732G>T	10.37:g.128830467G>T	ENSP00000280333:p.Glu578*		A9Z1Z5	Nonsense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.E578*	ENST00000280333.6	37	c.1732		10	.	.	.	.	.	.	.	.	.	.	G	38	6.834245	0.97873	.	.	ENSG00000150760	ENST00000280333	.	.	.	3.85	3.85	0.44370	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	17.1159	0.86688	0.0:0.0:1.0:0.0	.	.	.	.	X	578	.	ENSP00000280333:E578X	E	+	1	0	DOCK1	128720457	1.000000	0.71417	0.234000	0.24042	0.376000	0.30014	7.173000	0.77612	2.415000	0.81967	0.655000	0.94253	GAA	DOCK1	-	NULL	ENSG00000150760		0.557	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2		0	22	0	G	NM_001380		128830467	1			no_errors	ENST00000280333	ensembl	human	known	74_37	nonsense	20.83	19	5	SNP	1.000	T	T	128830467	G	T	128830467	4	4	151	1	0	0	0	0	0	1	0	0	4698	1175	41	3	1802	3	DOCK1	10	128830467	Nonsense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	10378505	128830467	6704280	129	38494											
HBD	3045	genome.wustl.edu	37	chr11	5255229	5255229	+	Missense_Mutation	SNP	T	T	A	0	1	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	tcctggactcaccctgaagtTctcaggatccacgtgcagct	8	10	9	14	1	2	1	2	1	1	0	5	3	4	3	3	2	2	3	3	2	1	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:5255229T>A	ENST00000380299.3	-	2	521	c.307A>T	c.(307-309)Aac>Tac	p.N103Y	HBD_ENST00000292901.3_Missense_Mutation_p.N103Y	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	103					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCTGAAGTTCTCAGGATCC	0.463																																																	0													98	85	89					11																	5255229		2201	4298	6499	SO:0001583	missense	0			AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.307A>T	11.37:g.5255229T>A	ENSP00000369654:p.Asn103Tyr		Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin	p.N103Y	ENST00000380299.3	37	c.307	CCDS31376.1	11	.	.	.	.	.	.	.	.	.	.	t	19.21	3.783800	0.70222	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.93488	-3.23;-3.23;-3.23	4.43	3.28	0.37604	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.97604	0.9215	H	0.97940	4.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.96911	0.9667	10	0.87932	D	0	-21.5726	9.5649	0.39391	0.1574:0.0:0.0:0.8426	.	103	P02042	HBD_HUMAN	Y	103	ENSP00000292901:N103Y;ENSP00000369654:N103Y;ENSP00000393810:N103Y	ENSP00000292901:N103Y	N	-	1	0	HBD	5211805	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.550000	0.67268	0.817000	0.34445	0.533000	0.62120	AAC	HBD	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin	ENSG00000223609		0.463	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBD	HGNC	protein_coding	OTTHUMT00000142970.1		0	67	0	T	NM_000519		5255229	-1			no_errors	ENST00000380299	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	5255229	T	A	5255229	3	1	151	1	0	0	0	0	1	0	0	0	7006	1783	62	5	144	5	HBD	11	5255229	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09		5255229	129751287	130	38495											
HBG1	3047	genome.wustl.edu	37	chr11	5269622	5269622	+	Silent	SNP	T	T	G	0	1	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	gaggacagggcactggccacTgcagtcaccatcttctgcca	9	7	11	14	0	3	0	1	0	2	0	3	2	3	1	3	3	2	2	3	3	0	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:5269622T>G	ENST00000330597.3	-	3	498	c.411A>C	c.(409-411)gcA>gcC	p.A137A	CTD-2643I7.1_ENST00000564523.1_RNA	NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	137					blood coagulation (GO:0007596)	cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGGCCACTGCAGTCACCA	0.488																																					Ovarian(117;2080 2193 33416 49679)												0													79	75	76					11																	5269622		2201	4298	6499	SO:0001819	synonymous_variant	0			M91036	CCDS7754.1	11p15.5	2014-05-19			ENSG00000213934	ENSG00000213934			4831	protein-coding gene	gene with protein product		142200				2649166	Standard	NM_000559		Approved	HBG-T2	uc001mah.1	P69891	OTTHUMG00000066681	ENST00000330597.3:c.411A>C	11.37:g.5269622T>G			P02096|P62027|Q549G1|Q8TDA1|Q96FH7	Silent	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.A137	ENST00000330597.3	37	c.411	CCDS7754.1	11	.	.	.	.	.	.	.	.	.	.	T	2.844	-0.239913	0.05944	.	.	ENSG00000213934	ENST00000380256	.	.	.	2.59	-5.18	0.02840	.	1.066700	0.07479	U	0.903470	T	0.48786	0.1519	.	.	.	0.34902	D	0.746598	.	.	.	.	.	.	T	0.60999	-0.7151	6	0.87932	D	0	.	4.9232	0.13880	0.6113:0.0:0.1572:0.2315	.	.	.	.	R	137	.	ENSP00000369606:S137R	S	-	1	0	HBG1	5226198	0.000000	0.05858	0.001000	0.08648	0.234000	0.25298	-2.496000	0.00970	-0.751000	0.04734	0.379000	0.24179	AGT	HBG1	-	superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	ENSG00000213934		0.488	HBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBG1	HGNC	protein_coding	OTTHUMT00000142982.1	-	0	74	0	T	NM_000559		5269622	-1	tier1	-	no_errors	ENST00000330597	ensembl	human	known	74_37	silent	72.22	15	39	SNP	0.575	G	G	5269622	T	G	5269622	2	3	151	1	0	0	0	0	0	0	0	1	7009	1567	55	4		4	HBG1	11	5269622	Silent	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	14393	5269622	129736894	131	38496											
OR10A3	26496	genome.wustl.edu	37	chr11	7960520	7960520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacacaagctctagtaccGggggagtctcacagaagaga	14	5	11	11	1	2	2	1	0	2	2	3	4	2	3	1	2	2	2	1	2	4	2	rs200724726		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:7960520G>T	ENST00000360759.3	-	1	621	c.548C>A	c.(547-549)cCg>cAg	p.P183Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	183					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.P183Q(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTAGTACCGGGGGAGTCTC	0.433																																																	1	Substitution - Missense(1)	lung(1)											81	78	79					11																	7960520		2201	4296	6497	SO:0001583	missense	0			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"GPCR / Class A : Olfactory receptors"	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.548C>A	11.37:g.7960520G>T	ENSP00000353988:p.Pro183Gln		B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P183Q	ENST00000360759.3	37	c.548	CCDS31421.1	11	.	.	.	.	.	.	.	.	.	.	G	10.58	1.388769	0.25118	.	.	ENSG00000170683	ENST00000360759	T	0.00137	8.68	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.374582	0.18897	U	0.128139	T	0.00384	0.0012	M	0.62088	1.915	0.09310	N	1	P	0.46987	0.888	P	0.58172	0.834	T	0.58983	-0.7539	10	0.87932	D	0	.	16.0778	0.80979	0.0:0.0:1.0:0.0	.	183	P58181	O10A3_HUMAN	Q	183	ENSP00000353988:P183Q	ENSP00000353988:P183Q	P	-	2	0	OR10A3	7917096	0.993000	0.37304	0.026000	0.17262	0.001000	0.01503	6.122000	0.71608	2.742000	0.94016	0.650000	0.86243	CCG	OR10A3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000170683		0.433	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A3	HGNC	protein_coding	OTTHUMT00000385704.1		0	35	0	G	NM_001003745		7960520	-1			no_errors	ENST00000360759	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.005	T	T	7960520	G	T	7960520	3	4	151	1	0	0	0	0	1	0	0	0	10930	1116	39	2	399	2	OR10A3	11	7960520	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	2690898	7960520	127045996	132	38497											
SPON1	10418	genome.wustl.edu	37	chr11	14276219	14276219	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgtggctgggtccagaagGtggtgcaagacctgattccc	9	9	14	9	0	0	3	0	1	0	2	2	3	2	3	3	4	1	2	3	4	3	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:14276219G>T	ENST00000310358.7	+	0	1571							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.V345L(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGTCCAGAAGGTGGTGCAAGA	0.572																																																	1	Substitution - Missense(1)	lung(1)											108	117	114					11																	14276219		2175	4273	6448			0			AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"spondin 1, (f-spondin) extracellular matrix protein"			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276219G>T			A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	-	NULL	ENST00000310358.7	37	NULL		11	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447425	0.43429	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.67	4.75	0.60458	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	.	.	.	0.49582	D	0.999805	B	0.09022	0.002	B	0.06405	0.002	T	0.50013	-0.8877	7	0.23891	T	0.37	.	14.4062	0.67083	0.0:0.1488:0.8512:0.0	.	346	Q9HCB6	SPON1_HUMAN	L	345	.	ENSP00000309297:V345L	V	+	1	0	SPON1	14232795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.008000	0.63991	1.370000	0.46153	0.561000	0.74099	GTG	SPON1	-	-	ENSG00000152268		0.572	SPON1-201	KNOWN	basic	processed_transcript	SPON1	HGNC	processed_transcript		-	0	80	0	G	NM_145584		14276219	1	tier1	-	no_errors	ENST00000310358	ensembl	human	known	74_37	rna	7.55	49	4	SNP	1.000	T	T	14276219	G	T	14276219	1	4	151	0	1	0	0	0	0	0	0	0	15129	1261	44	3		3	SPON1	11	14276219	RNA	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	6315699	14276219	120730297	133	38498											
SLC35C1	55343	genome.wustl.edu	37	chr11	45832403	45832403	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccgtcttcggcgtgctGgctagcctctgtgtctcgct	2	12	13	14	4	3	0	0	0	3	0	5	0	3	0	2	3	2	4	2	3	1	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:45832403G>T	ENST00000314134.3	+	2	2008	c.612G>T	c.(610-612)ctG>ctT	p.L204L	SLC35C1_ENST00000442528.2_Silent_p.L191L|CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000456334.1_Silent_p.L191L	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	204					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TCGGCGTGCTGGCTAGCCTCT	0.642																																																	0													47	46	46					11																	45832403		2202	4298	6500	SO:0001819	synonymous_variant	0				CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"Solute carriers"	20197	protein-coding gene	gene with protein product		605881	"solute carrier family 35, member C1"			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.612G>T	11.37:g.45832403G>T			B2RDB2|Q9BV76|Q9NUJ8	Silent	SNP	pfam_Tpt_PEP_trans_dom,pfam_UAA,pfam_DMT	p.L204	ENST00000314134.3	37	c.612	CCDS7914.1	11																																																																																			SLC35C1	-	pfam_Tpt_PEP_trans_dom,pfam_UAA	ENSG00000181830		0.642	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35C1	HGNC	protein_coding	OTTHUMT00000390139.1	-	0	62	0	G	NM_018389		45832403	1	tier1	-	no_errors	ENST00000314134	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T	T	45832403	G	T	45832403	2	4	151	1	0	0	0	0	0	0	0	1	14624	1335	47	3		3	SLC35C1	11	45832403	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	31556184	45832403	89174113	134	38499											
OR4A15	81328	genome.wustl.edu	37	chr11	55135763	55135763	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttttatggatcatttatTtgctggtgctgaagtcattc	8	19	8	6	0	2	1	2	1	0	0	3	2	2	2	0	2	2	2	0	2	3	7			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:55135763T>G	ENST00000314706.3	+	1	404	c.404T>G	c.(403-405)tTt>tGt	p.F135C		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GATCATTTATTTGCTGGTGCT	0.413																																																	0													169	165	167					11																	55135763		2201	4296	6497	SO:0001583	missense	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.404T>G	11.37:g.55135763T>G	ENSP00000325065:p.Phe135Cys		Q6IFL4|Q96R65	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F135C	ENST00000314706.3	37	c.404	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	t	11.08	1.534967	0.27475	.	.	ENSG00000181958	ENST00000314706	T	0.00381	7.63	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000088	T	0.00524	0.0017	M	0.80746	2.51	0.34888	D	0.745255	B	0.32781	0.384	B	0.40038	0.317	T	0.51741	-0.8667	10	0.72032	D	0.01	.	10.0108	0.41986	0.0:0.0:0.0:1.0	.	135	Q8NGL6	O4A15_HUMAN	C	135	ENSP00000325065:F135C	ENSP00000325065:F135C	F	+	2	0	OR4A15	54892339	0.012000	0.17670	0.874000	0.34290	0.438000	0.31896	1.826000	0.39092	1.456000	0.47831	0.403000	0.27427	TTT	OR4A15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181958		0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	-	0	76	0	T	NM_001005275		55135763	1	tier1	-	no_errors	ENST00000314706	ensembl	human	known	74_37	missense	65.45	19	36	SNP	0.998	G	G	55135763	T	G	55135763	3	3	151	1	0	0	0	0	1	0	0	0	11079	1841	64	4	406	4	OR4A15	11	55135763	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	9303360	55135763	79870753	135	38500											
GDPD4	220032	genome.wustl.edu	37	chr11	76980066	76980066	+	Missense_Mutation	SNP	A	A	G	1	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	tccccagtggcatcaaatagAgacctaaaaggataagaaga	18	6	9	8	0	1	3	1	0	0	3	2	5	2	4	3	2	0	1	3	2	6	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:76980066A>G	ENST00000376217.2	-	8	777	c.527T>C	c.(526-528)cTc>cCc	p.L176P	GDPD4_ENST00000527489.1_5'Flank|GDPD4_ENST00000315938.4_Missense_Mutation_p.L176P			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	176					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CATCAAATAGAGACCTAAAAG	0.448																																																	0													87	83	85					11																	76980066		2200	4292	6492	SO:0001583	missense	0			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.527T>C	11.37:g.76980066A>G	ENSP00000365390:p.Leu176Pro		Q7Z5B0	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.L176P	ENST00000376217.2	37	c.527		11	.	.	.	.	.	.	.	.	.	.	A	12.36	1.914292	0.33815	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.21031	2.04;2.03	5.07	5.07	0.68467	.	0.299727	0.31897	N	0.006881	T	0.40719	0.1128	M	0.79123	2.44	0.22511	N	0.999039	D	0.61080	0.989	P	0.56700	0.804	T	0.37686	-0.9695	10	0.87932	D	0	-7.1869	12.4733	0.55799	1.0:0.0:0.0:0.0	.	176	Q6W3E5-2	.	P	176	ENSP00000365390:L176P;ENSP00000320815:L176P	ENSP00000320815:L176P	L	-	2	0	GDPD4	76657714	1.000000	0.71417	0.005000	0.12908	0.055000	0.15305	6.084000	0.71335	2.136000	0.66102	0.533000	0.62120	CTC	GDPD4	-	NULL	ENSG00000178795		0.448	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	HGNC	protein_coding	OTTHUMT00000382075.1	-	0	35	0	A	NM_182833		76980066	-1	tier1	-	no_errors	ENST00000376217	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.008	G	G	76980066	A	G	76980066	3	3	151	1	0	0	0	0	1	0	0	0	6352	304	11	4	1071	4	GDPD4	11	76980066	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	21844303	76980066	58026450	136	38501											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103044888	103044888	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	acagctaaacaaaagtggcaCtacacagaatggtatgattg	17	8	9	7	0	0	2	0	1	0	1	0	2	0	2	0	2	3	3	0	2	7	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:103044888C>G	ENST00000375735.2	+	36	5807	c.5663C>G	c.(5662-5664)aCt>aGt	p.T1888S	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T1888S|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	1888					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)		AAAAGTGGCACTACACAGAAT	0.333																																																	0													82	73	76					11																	103044888		1840	4085	5925	SO:0001583	missense	0			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.5663C>G	11.37:g.103044888C>G	ENSP00000364887:p.Thr1888Ser		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T1888S	ENST00000375735.2	37	c.5663	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	2.778	-0.254128	0.05829	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.26810	1.71;1.71	5.87	-3.32	0.04973	.	.	.	.	.	T	0.10809	0.0264	N	0.20881	0.62	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.37663	-0.9696	9	0.09084	T	0.74	.	2.4028	0.04406	0.1017:0.2565:0.2035:0.4382	.	1888;1888	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	1888	ENSP00000364887:T1888S;ENSP00000381167:T1888S	ENSP00000364887:T1888S	T	+	2	0	DYNC2H1	102550098	0.001000	0.12720	0.000000	0.03702	0.075000	0.17131	-0.063000	0.11655	-0.432000	0.07297	-0.225000	0.12378	ACT	DYNC2H1	-	NULL	ENSG00000187240		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	58	0	C	XM_370652		103044888	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	51.52	16	17	SNP	0.000	G	G	103044888	C	G	103044888	3	3	151	1	0	0	0	0	1	0	0	0	4860	565	20	5	5805	5	DYNC2H1	11	103044888	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	26064822	103044888	31961628	137	38502											
UPK2	7379	genome.wustl.edu	37	chr11	118828379	118828379	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaatgtccacactccctcGtaagtaacactcccgcctcc	9	8	4	20	2	0	0	0	0	0	0	5	0	4	0	6	0	1	2	6	0	3	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:118828379G>A	ENST00000264031.2	+	4	453		c.e4+1		UPK2_ENST00000534788.1_Splice_Site	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2						epithelial cell differentiation (GO:0030855)|membrane organization (GO:0061024)|multicellular organismal development (GO:0007275)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		ACActccctcgtaagtaacac	0.557											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													118	112	114					11																	118828379		2200	4295	6495	SO:0001630	splice_region_variant	0			Y13645	CCDS8404.1	11q23	2008-07-21				ENSG00000110375			12579	protein-coding gene	gene with protein product	"uroplakin II", "uroplakin-2"	611558				9515818, 9846985	Standard	NM_006760		Approved	UP2, UPII, MGC138598	uc001puh.3	O00526		ENST00000264031.2:c.418+1G>A	11.37:g.118828379G>A		1491	B0YJ92|O00457|Q53YV0	Splice_Site	SNP	-	e4+1	ENST00000264031.2	37	c.418+1	CCDS8404.1	11																																																																																			UPK2	-	-	ENSG00000110375		0.557	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK2	HGNC	protein_coding	OTTHUMT00000389311.1		0	32	0	G	NM_006760	Intron	118828379	1			no_errors	ENST00000264031	ensembl	human	known	74_37	splice_site	7.41	25	2	SNP	1.000	A	A	118828379	G	A	118828379	5	1	151	1	0	0	0	0	0	0	1	0	17058	1159	40	1	433	1	UPK2	11	118828379	Splice_Site	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	15783491	118828379	16178137	138	38503											
TECTA	7007	genome.wustl.edu	37	chr11	120976651	120976651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcccagttttcttctttgGcgttccttaccgcactgtct	4	17	6	14	2	3	0	0	0	3	0	5	0	5	0	3	1	1	3	3	1	1	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:120976651G>T	ENST00000392793.1	+	3	447	c.176G>T	c.(175-177)gGc>gTc	p.G59V	TECTA_ENST00000264037.2_Missense_Mutation_p.G59V			O75443	TECTA_HUMAN	tectorin alpha	59					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)		TTCTTCTTTGGCGTTCCTTAC	0.433																																																	0													261	252	255					11																	120976651		2203	4299	6502	SO:0001583	missense	0			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.176G>T	11.37:g.120976651G>T	ENSP00000376543:p.Gly59Val			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.G59V	ENST00000392793.1	37	c.176	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669329	0.67814	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.76316	-1.01;-1.01	5.78	5.78	0.91487	.	0.222920	0.46758	D	0.000273	D	0.88760	0.6524	M	0.91300	3.195	0.58432	D	0.999999	D	0.64830	0.994	P	0.54100	0.742	D	0.90803	0.4695	10	0.87932	D	0	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	59	O75443	TECTA_HUMAN	V	59	ENSP00000376543:G59V;ENSP00000264037:G59V	ENSP00000264037:G59V	G	+	2	0	TECTA	120481861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.801000	0.69115	2.729000	0.93468	0.650000	0.86243	GGC	TECTA	-	NULL	ENSG00000109927		0.433	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0	65	0	G	NM_005422		120976651	1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	120976651	G	T	120976651	3	4	151	1	0	0	0	0	1	0	0	0	15794	1203	42	3	182	3	TECTA	11	120976651	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	2148272	120976651	14029865	139	38504											
OR10G8	219869	genome.wustl.edu	37	chr11	123900725	123900725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacccgctcaggtacacCagcatgatgactgggcgctc	9	8	11	13	2	1	2	1	2	0	0	2	2	1	2	2	2	3	5	2	2	2	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:123900725C>T	ENST00000431524.1	+	1	429	c.396C>T	c.(394-396)acC>acT	p.T132T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|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)		TCAGGTACACCAGCATGATGA	0.542																																																	0													155	144	148					11																	123900725		2201	4299	6500	SO:0001819	synonymous_variant	0			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.396C>T	11.37:g.123900725C>T			B2RNJ3|Q6IEV2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T132	ENST00000431524.1	37	c.396	CCDS31704.1	11																																																																																			OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000234560		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	-	0	73	0	C	NM_001004464		123900725	1	tier1	-	no_errors	ENST00000431524	ensembl	human	known	74_37	silent	55.71	31	39	SNP	0.011	T	T	123900725	C	T	123900725	2	4	151	1	0	0	0	0	0	0	0	1	10942	581	21	3		3	OR10G8	11	123900725	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	2924074	123900725	11105791	140	38505											
SCNN1A	6337	genome.wustl.edu	37	chr12	6457242	6457242	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggtggaggctacctcctGagcacccctgccccctcggc	5	6	12	18	1	0	1	0	1	0	0	2	2	1	2	6	4	3	2	6	4	1	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:6457242G>A	ENST00000228916.2	-	13	1905	c.1807C>T	c.(1807-1809)Cag>Tag	p.Q603*	SCNN1A_ENST00000540037.1_Nonsense_Mutation_p.Q303*|SCNN1A_ENST00000360168.3_Nonsense_Mutation_p.Q662*|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Nonsense_Mutation_p.Q625*|SCNN1A_ENST00000543768.1_Nonsense_Mutation_p.Q626*	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	603					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)	gcTACCTCCTGAGCACCCCTG	0.637																																																	0													45	42	43					12																	6457242		2202	4300	6502	SO:0001587	stop_gained	0			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.1807C>T	12.37:g.6457242G>A	ENSP00000228916:p.Gln603*		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Nonsense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.Q625*	ENST00000228916.2	37	c.1873	CCDS8543.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.665342	0.99233	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	.	.	.	4.38	1.09	0.20402	.	1.278690	0.05575	N	0.571766	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.909	3.1083	0.06350	0.0998:0.151:0.5226:0.2266	.	.	.	.	X	662;625;303;603;626	.	ENSP00000228916:Q603X	Q	-	1	0	SCNN1A	6327503	0.000000	0.05858	0.479000	0.27329	0.884000	0.51177	0.317000	0.19487	-0.109000	0.12044	0.555000	0.69702	CAG	SCNN1A	-	NULL	ENSG00000111319		0.637	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	-	0	76	0	G			6457242	-1	tier1	-	no_errors	ENST00000358945	ensembl	human	known	74_37	nonsense	27.19	83	31	SNP	0.078	A	A	6457242	G	A	6457242	4	1	151	1	0	0	0	0	0	1	0	0	13972	1299	45	3	206	3	SCNN1A	12	6457242	Nonsense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09		6457242	127394653	141	38506											
IFFO1	25900	genome.wustl.edu	37	chr12	6664942	6664942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttggccaggaagcagCggaaccggaggttcagggtc	9	5	16	11	2	1	0	1	0	0	0	2	3	1	3	3	6	3	3	3	6	2	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:6664942C>T	ENST00000396840.2	-	1	295	c.254G>A	c.(253-255)cGc>cAc	p.R85H	IFFO1_ENST00000336604.4_Missense_Mutation_p.R85H|NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000356896.4_Missense_Mutation_p.R85H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	85						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CAGGAAGCAGCGGAACCGGAG	0.697																																																	0													46	49	48					12																	6664942		2203	4300	6503	SO:0001583	missense	0			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.254G>A	12.37:g.6664942C>T	ENSP00000380052:p.Arg85His		Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	NULL	p.R85H	ENST00000396840.2	37	c.254		12	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052732	0.75960	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	D;D;D	0.96011	-3.88;-3.88;-3.88	4.22	4.22	0.49857	.	0.158606	0.29767	N	0.011252	D	0.96759	0.8942	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	D	0.97400	0.9995	10	0.87932	D	0	-13.2238	15.5044	0.75725	0.0:1.0:0.0:0.0	.	85;85;85;85	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	H	85	ENSP00000337593:R85H;ENSP00000380052:R85H;ENSP00000349364:R85H	ENSP00000337593:R85H	R	-	2	0	IFFO1	6535203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.889000	0.56212	2.172000	0.68678	0.561000	0.74099	CGC	IFFO1	-	NULL	ENSG00000010295		0.697	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	IFFO1	HGNC	protein_coding	OTTHUMT00000280428.1	-	0	45	0	C	NM_080730		6664942	-1	tier1	-	no_errors	ENST00000356896	ensembl	human	known	74_37	missense	39.39	20	13	SNP	1.000	T	T	6664942	C	T	6664942	3	4	151	1	0	0	0	0	1	0	0	0	7537	768	27	1	1477	1	IFFO1	12	6664942	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	207700	6664942	127186953	142	38507											
SLCO1B3	28234	genome.wustl.edu	37	chr12	21033792	21033792	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatcatatattttcagaaaTaattcagtggcatctcatgt	13	16	5	7	0	4	1	4	0	1	1	5	1	4	1	0	1	0	1	0	1	5	7			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:21033792T>C	ENST00000381545.3	+	12	1554	c.1335T>C	c.(1333-1335)aaT>aaC	p.N445N	SLCO1B3_ENST00000261196.2_Silent_p.N445N|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.N445N|SLCO1B3_ENST00000553473.1_Silent_p.N445N	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	445					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTTTCAGAAATAATTCAGTGG	0.383																																																	0													67	67	67					12																	21033792		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1335T>C	12.37:g.21033792T>C			E7EMT8|Q5JAR4	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.N445	ENST00000381545.3	37	c.1335	CCDS8684.1	12																																																																																			SLCO1B3	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.383	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0	41	0	T	NM_019844		21033792	1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	silent	41.30	27	19	SNP	0.096	C	C	21033792	T	C	21033792	2	2	151	1	0	0	0	0	0	0	0	1	14769	1403	49	4		4	SLCO1B3	12	21033792	Silent	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	14368850	21033792	112818103	143	38508											
FAR2	55711	genome.wustl.edu	37	chr12	29464815	29464815	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttttatttcattttccaGacctaagtcaacattagtct	12	18	3	8	0	3	1	2	0	1	1	4	1	4	1	2	0	1	0	2	0	5	8			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:29464815G>A	ENST00000536681.3	+	8	1133		c.e8-1		FAR2_ENST00000547116.1_Splice_Site|FAR2_ENST00000182377.4_Splice_Site|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						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						TCATTTTCCAGACCTAAGTCA	0.294																																																	0													62	61	61					12																	29464815		2203	4300	6503	SO:0001630	splice_region_variant	0			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.888-1G>A	12.37:g.29464815G>A			F8VV73|Q9H0D5|Q9NVW8	Splice_Site	SNP	-	e7-1	ENST00000536681.3	37	c.888-1	CCDS8717.1	12	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884434	0.72410	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9326	0.79675	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAR2	29356082	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	7.496000	0.81526	2.411000	0.81874	0.655000	0.94253	.	FAR2	-	-	ENSG00000064763		0.294	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	HGNC	protein_coding	OTTHUMT00000403479.2	-	0	48	0	G	NM_018099	Intron	29464815	1	tier1	-	no_errors	ENST00000182377	ensembl	human	known	74_37	splice_site	33.33	26	13	SNP	1.000	A	A	29464815	G	A	29464815	5	1	151	1	0	0	0	0	0	0	1	0	5697	956	33	3	913	3	FAR2	12	29464815	Splice_Site	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	8431023	29464815	104387080	144	38509											
AQP2	359	genome.wustl.edu	37	chr12	50348089	50348089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcttctctgtggccctggGccacctccttggggtaggtc	3	11	14	13	0	1	0	0	0	1	0	4	0	2	0	4	6	0	2	4	6	1	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:50348089G>A	ENST00000199280.3	+	2	597	c.512G>A	c.(511-513)gGc>gAc	p.G171D	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	171					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GTGGCCCTGGGCCACCTCCTT	0.627																																																	0													28	33	32					12																	50348089		2203	4299	6502	SO:0001583	missense	0				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.512G>A	12.37:g.50348089G>A	ENSP00000199280:p.Gly171Asp		Q9UD68	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.G171D	ENST00000199280.3	37	c.512	CCDS8792.1	12	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286792	0.80803	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;T	0.93133	-3.17;0.93	4.72	4.72	0.59763	Aquaporin-like (2);	0.000000	0.64402	D	0.000004	D	0.96281	0.8787	M	0.73962	2.25	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96782	0.9576	10	0.87932	D	0	-24.4279	15.5492	0.76133	0.0:0.0:1.0:0.0	.	171	P41181	AQP2_HUMAN	D	171	ENSP00000199280:G171D;ENSP00000450022:G171D	ENSP00000199280:G171D	G	+	2	0	AQP2	48634356	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.853000	0.86934	2.354000	0.79902	0.491000	0.48974	GGC	AQP2	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	ENSG00000167580		0.627	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP2	HGNC	protein_coding	OTTHUMT00000405540.1	-	0	73	0	G	NM_000486		50348089	1	tier1	-	no_errors	ENST00000199280	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	50348089	G	A	50348089	3	1	151	1	0	0	0	0	1	0	0	0	826	1203	42	3	518	3	AQP2	12	50348089	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	20883274	50348089	83503806	145	38510											
ESPL1	9700	genome.wustl.edu	37	chr12	53670934	53670934	+	Missense_Mutation	SNP	A	A	G	1	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	tgaggcctgaggcccaggccAgagatcagcttctggacgat	9	7	14	11	1	2	3	1	2	1	1	2	6	2	4	3	4	1	1	3	4	0	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:53670934A>G	ENST00000257934.4	+	9	2099	c.2008A>G	c.(2008-2010)Aga>Gga	p.R670G	ESPL1_ENST00000552462.1_Missense_Mutation_p.R670G	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	670					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						GGCCCAGGCCAGAGATCAGCT	0.562																																					Colon(53;1069 1201 2587 5382)												0													71	70	70					12																	53670934		2203	4300	6503	SO:0001583	missense	0			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.2008A>G	12.37:g.53670934A>G	ENSP00000257934:p.Arg670Gly			Missense_Mutation	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.R670G	ENST00000257934.4	37	c.2008	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	A	5.893	0.348843	0.11126	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.14391	2.51;2.51	5.19	-10.4	0.00318	.	1.162550	0.06077	N	0.661241	T	0.07458	0.0188	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.28713	-1.0035	10	0.23891	T	0.37	.	10.9639	0.47401	0.6223:0.2745:0.1032:0.0	.	670	Q14674	ESPL1_HUMAN	G	670;345;670	ENSP00000257934:R670G;ENSP00000449831:R670G	ENSP00000257934:R670G	R	+	1	2	ESPL1	51957201	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-1.383000	0.02544	-2.315000	0.00646	0.533000	0.62120	AGA	ESPL1	-	NULL	ENSG00000135476		0.562	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0	21	0	A	NM_012291		53670934	1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.000	G	G	53670934	A	G	53670934	3	3	151	1	0	0	0	0	1	0	0	0	5269	180	7	4	2038	4	ESPL1	12	53670934	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	3322845	53670934	80180961	146	38511											
BAZ2A	11176	genome.wustl.edu	37	chr12	57007891	57007891	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtaacgattccacagaaggGacagagccattgtagccaca	14	7	10	10	1	0	2	0	0	0	2	1	4	1	3	3	1	3	2	3	1	3	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:57007891G>T	ENST00000551812.1	-	4	961	c.768C>A	c.(766-768)gtC>gtA	p.V256V	BAZ2A_ENST00000179765.5_Silent_p.V224V|BAZ2A_ENST00000549884.1_Silent_p.V254V|BAZ2A_ENST00000379441.3_Silent_p.V226V	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	256					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						CCACAGAAGGGACAGAGCCAT	0.458																																																	0													130	126	127					12																	57007891		1986	4158	6144	SO:0001819	synonymous_variant	0			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.768C>A	12.37:g.57007891G>T			B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.V256	ENST00000551812.1	37	c.768	CCDS44924.1	12																																																																																			BAZ2A	-	NULL	ENSG00000076108		0.458	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1		0	35	0	G	NM_013449		57007891	-1			no_errors	ENST00000551812	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T	T	57007891	G	T	57007891	2	4	151	1	0	0	0	0	0	0	0	1	1332	1161	41	3		3	BAZ2A	12	57007891	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	3336957	57007891	76844004	147	38512											
IL26	55801	genome.wustl.edu	37	chr12	68619437	68619437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgggacaatgttccccttgGgtaacaacttttggtgaagg	9	13	12	7	0	0	1	0	1	0	0	1	2	1	2	2	4	2	2	2	4	4	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:68619437G>T	ENST00000229134.4	-	1	164	c.100C>A	c.(100-102)Cca>Aca	p.P34T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	34					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GTTCCCCTTGGGTAACAACTT	0.438																																																	0													283	248	260					12																	68619437		2203	4300	6503	SO:0001583	missense	0			AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"Interleukins and interleukin receptors"	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.100C>A	12.37:g.68619437G>T	ENSP00000229134:p.Pro34Thr			Missense_Mutation	SNP	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core	p.P34T	ENST00000229134.4	37	c.100	CCDS8981.1	12	.	.	.	.	.	.	.	.	.	.	G	6.581	0.475580	0.12521	.	.	ENSG00000111536	ENST00000229134	T	0.62105	0.05	4.94	0.163	0.14986	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.025540	0.07782	N	0.953552	T	0.48624	0.1510	L	0.44542	1.39	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.30650	-0.9971	9	.	.	.	.	3.9911	0.09537	0.28:0.0:0.5559:0.1642	.	34	Q9NPH9	IL26_HUMAN	T	34	ENSP00000229134:P34T	.	P	-	1	0	IL26	66905704	0.839000	0.29477	0.001000	0.08648	0.743000	0.42351	1.617000	0.36943	-0.043000	0.13513	0.462000	0.41574	CCA	IL26	-	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core	ENSG00000111536		0.438	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL26	HGNC	protein_coding	OTTHUMT00000402302.1		0	42	0	G	NM_018402		68619437	-1			no_errors	ENST00000229134	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.001	T	T	68619437	G	T	68619437	3	4	151	1	0	0	0	0	1	0	0	0	7706	1232	43	3	435	3	IL26	12	68619437	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	11611546	68619437	65232458	148	38513											
NAV3	89795	genome.wustl.edu	37	chr12	78522596	78522596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcacctctggtttcccCttctgccatgtcatcttctg	4	15	6	16	0	6	0	2	0	4	0	7	0	7	0	5	1	1	1	5	1	0	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:78522596C>T	ENST00000397909.2	+	18	4564	c.4391C>T	c.(4390-4392)cCt>cTt	p.P1464L	NAV3_ENST00000536525.2_Missense_Mutation_p.P1464L|NAV3_ENST00000228327.6_Missense_Mutation_p.P1464L|NAV3_ENST00000266692.7_Missense_Mutation_p.P1287L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1464	Ser-rich.					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						CTGGTTTCCCCTTCTGCCATG	0.448										HNSCC(70;0.22)																																							0													114	111	112					12																	78522596		1906	4127	6033	SO:0001583	missense	0			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.4391C>T	12.37:g.78522596C>T	ENSP00000381007:p.Pro1464Leu		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.P1464L	ENST00000397909.2	37	c.4391		12	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687442	0.88639	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.38401	1.14;1.19;1.16;1.29;2.26	5.81	5.81	0.92471	.	0.000000	0.40064	U	0.001195	T	0.62792	0.2457	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.999;0.98;1.0;0.996	D;P;D;D	0.91635	0.979;0.762;0.999;0.923	T	0.62613	-0.6817	10	0.62326	D	0.03	-18.751	20.0755	0.97742	0.0:1.0:0.0:0.0	.	1464;1287;1464;1464	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	1464;1464;1464;1287;85;93	ENSP00000446132:P1464L;ENSP00000381007:P1464L;ENSP00000228327:P1464L;ENSP00000266692:P1287L;ENSP00000448303:P93L	ENSP00000228327:P1464L	P	+	2	0	NAV3	77046727	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.594000	0.82698	2.749000	0.94314	0.460000	0.39030	CCT	NAV3	-	NULL	ENSG00000067798		0.448	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	47	0	C	NM_001024383		78522596	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	T	T	78522596	C	T	78522596	3	4	151	1	0	0	0	0	1	0	0	0	10223	681	24	3	4461	3	NAV3	12	78522596	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	9903159	78522596	55329299	149	38514											
ATP2A2	488	genome.wustl.edu	37	chr12	110784258	110784258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagacactaactttagcGatatgttctggtcttgactg	10	13	9	9	1	2	2	0	1	2	1	2	3	2	2	0	1	2	2	0	1	3	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:110784258G>T	ENST00000539276.2	+	20	3221	c.3112G>T	c.(3112-3114)Gat>Tat	p.D1038Y	ATP2A2_ENST00000308664.6_Intron|ATP2A2_ENST00000395494.2_Missense_Mutation_p.D1011Y			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1038					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						TAACTTTAGCGATATGTTCTG	0.403																																																	0													80	72	75					12																	110784258		2203	4300	6503	SO:0001583	missense	0				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.3112G>T	12.37:g.110784258G>T	ENSP00000440045:p.Asp1038Tyr		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.D1038Y	ENST00000539276.2	37	c.3112	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.61|14.61	2.585765|2.585765	0.46110|0.46110	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000395494;ENST00000539276|ENST00000548169	D;D|.	0.94897|.	-3.55;-3.53|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.238391|.	0.48767|.	D|.	0.000169|.	T|T	0.48750|0.48750	0.1517|0.1517	N|N	0.08118|0.08118	0|0	0.42572|0.42572	D|D	0.993184|0.993184	P;B|.	0.35456|.	0.502;0.368|.	P;B|.	0.45119|.	0.47;0.279|.	T|T	0.42849|0.42849	-0.9427|-0.9427	9|5	.|.	.|.	.|.	.|.	20.6439|20.6439	0.99570|0.99570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1011;1038|.	P16615-4;P16615|.	.;AT2A2_HUMAN|.	Y|L	1011;1038|928	ENSP00000378872:D1011Y;ENSP00000440045:D1038Y|.	.|.	D|R	+|+	1|2	0|0	ATP2A2|ATP2A2	109268641|109268641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.523000|6.523000	0.73787|0.73787	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAT|CGA	ATP2A2	-	NULL	ENSG00000174437		0.403	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	-	0	30	0	G	NM_001681		110784258	1	tier1	-	no_errors	ENST00000539276	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	T	T	110784258	G	T	110784258	3	4	151	1	0	0	0	0	1	0	0	0	1138	1058	37	2	3190	2	ATP2A2	12	110784258	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	32261662	110784258	23067637	150	38515											
WDR66	144406	genome.wustl.edu	37	chr12	122398616	122398616	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtttggggtttacctGgacagcaatgagcctagact	8	12	11	10	0	0	2	0	1	0	1	1	3	1	3	3	3	3	3	3	3	3	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:122398616G>T	ENST00000288912.4	+	14	3113	c.2259G>T	c.(2257-2259)ctG>ctT	p.L753L	WDR66_ENST00000397454.2_Silent_p.L753L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	753							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)		GGGTTTACCTGGACAGCAATG	0.507																																					Esophageal Squamous(85;849 1794 49757 52143)												0													106	103	104					12																	122398616		1959	4151	6110	SO:0001819	synonymous_variant	0			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.2259G>T	12.37:g.122398616G>T			C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L753	ENST00000288912.4	37	c.2259	CCDS41853.1	12																																																																																			WDR66	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000158023		0.507	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	-	0	51	0	G	NM_144668		122398616	1	tier1	-	no_errors	ENST00000288912	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.999	T	T	122398616	G	T	122398616	2	4	151	1	0	0	0	0	0	0	0	1	17366	1335	47	3		3	WDR66	12	122398616	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	11614358	122398616	11453279	151	38516											
NBEA	26960	genome.wustl.edu	37	chr13	35683448	35683448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaagagttcatataactAgagctgtcctggagcaattt	13	12	8	8	0	2	2	2	0	0	2	3	3	3	3	1	1	3	3	1	1	5	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr13:35683448A>G	ENST00000400445.3	+	12	2236	c.1702A>G	c.(1702-1704)Aga>Gga	p.R568G	NBEA_ENST00000379939.2_Missense_Mutation_p.R568G|NBEA_ENST00000310336.4_Missense_Mutation_p.R568G|NBEA_ENST00000540320.1_Missense_Mutation_p.R568G	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	568					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)		TCATATAACTAGAGCTGTCCT	0.328																																																	0													79	73	75					13																	35683448		1818	4069	5887	SO:0001583	missense	0			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.1702A>G	13.37:g.35683448A>G	ENSP00000383295:p.Arg568Gly		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.R568G	ENST00000400445.3	37	c.1702	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822365	0.50739	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.62501	-0.6841	10	0.26408	T	0.33	.	14.5834	0.68308	1.0:0.0:0.0:0.0	.	568	Q5T321	.	G	568	ENSP00000440951:R568G;ENSP00000383295:R568G;ENSP00000369271:R568G;ENSP00000308534:R568G	ENSP00000308534:R568G	R	+	1	2	NBEA	34581448	0.991000	0.36638	1.000000	0.80357	0.739000	0.42172	1.182000	0.32029	1.854000	0.53819	0.383000	0.25322	AGA	NBEA	-	superfamily_ARM-type_fold	ENSG00000172915		0.328	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding			0	60	0	A	NM_015678		35683448	1			no_errors	ENST00000310336	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	G	G	35683448	A	G	35683448	3	3	151	1	0	0	0	0	1	0	0	0	10225	412	15	4	1748	4	NBEA	13	35683448	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09		35683448	79486430	152	38517											
NBEA	26960	genome.wustl.edu	37	chr13	35785239	35785239	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcttctagttttgtGaatggtgctactagcaaaaa	10	15	7	9	0	2	1	0	1	2	0	4	1	4	1	2	1	3	3	2	1	6	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr13:35785239G>T	ENST00000400445.3	+	33	6105	c.5571G>T	c.(5569-5571)gtG>gtT	p.V1857V	NBEA_ENST00000379939.2_Silent_p.V1854V|NBEA_ENST00000310336.4_Silent_p.V1857V|NBEA_ENST00000540320.1_Silent_p.V1857V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1857					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)		CTAGTTTTGTGAATGGTGCTA	0.373																																																	0													52	50	51					13																	35785239		1839	4017	5856	SO:0001819	synonymous_variant	0			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.5571G>T	13.37:g.35785239G>T			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.V1857	ENST00000400445.3	37	c.5571	CCDS45026.1	13																																																																																			NBEA	-	NULL	ENSG00000172915		0.373	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding			0	41	0	G	NM_015678		35785239	1			no_errors	ENST00000310336	ensembl	human	known	74_37	silent	6.67	28	2	SNP	1.000	T	T	35785239	G	T	35785239	2	4	151	1	0	0	0	0	0	0	0	1	10225	1277	45	3		3	NBEA	13	35785239	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	101791	35785239	79384639	153	38518											
FREM2	341640	genome.wustl.edu	37	chr13	39452383	39452383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgatggctatgttccCaagtatagtccaatgaatgc	11	11	11	8	0	0	2	0	2	0	0	2	3	2	3	2	2	2	4	2	2	6	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr13:39452383C>T	ENST00000280481.7	+	22	9000	c.8784C>T	c.(8782-8784)ccC>ccT	p.P2928P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2928					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)		GCTATGTTCCCAAGTATAGTC	0.428																																																	0													185	157	167					13																	39452383		2203	4300	6503	SO:0001819	synonymous_variant	0			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.8784C>T	13.37:g.39452383C>T			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P2928	ENST00000280481.7	37	c.8784	CCDS31960.1	13																																																																																			FREM2	-	NULL	ENSG00000150893		0.428	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	47	0	C	NM_207361		39452383	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.997	T	T	39452383	C	T	39452383	2	4	151	1	0	0	0	0	0	0	0	1	6069	581	21	3		3	FREM2	13	39452383	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	3667144	39452383	75717495	154	38519											
RNF219	79596	genome.wustl.edu	37	chr13	79219014	79219014	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctataatttctttgcaaGgattttcaggagtgatgggg	10	15	11	5	0	2	1	1	1	1	0	2	3	2	3	1	4	2	1	1	4	4	7			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr13:79219014G>C	ENST00000282003.6	-	2	249	c.191C>G	c.(190-192)cCt>cGt	p.P64R		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	64							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTCTTTGCAAGGATTTTCAGG	0.358																																																	0													113	114	114					13																	79219014		2203	4300	6503	SO:0001583	missense	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.191C>G	13.37:g.79219014G>C	ENSP00000282003:p.Pro64Arg		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.P64R	ENST00000282003.6	37	c.191	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365173	0.82463	.	.	ENSG00000152193	ENST00000282003	T	0.17370	2.28	5.33	5.33	0.75918	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06607	-1.0817	10	0.56958	D	0.05	-0.6617	19.0488	0.93034	0.0:0.0:1.0:0.0	.	64	Q5W0B1	RN219_HUMAN	R	64	ENSP00000282003:P64R	ENSP00000282003:P64R	P	-	2	0	RNF219	78117015	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.230000	0.95299	2.489000	0.83994	0.655000	0.94253	CCT	RNF219	-	NULL	ENSG00000152193		0.358	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1		0	57	0	G	NM_024546		79219014	-1			no_errors	ENST00000282003	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	C	C	79219014	G	C	79219014	3	2	151	1	0	0	0	0	1	0	0	0	13527	1000	35	5	2009	5	RNF219	13	79219014	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	39766631	79219014	35950864	155	38520											
ATP5S	27109	genome.wustl.edu	37	chr14	50790662	50790662	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtactttttctccccaGagggcctagagcatgttgaa	9	13	9	10	0	2	3	0	1	2	2	3	3	2	3	3	1	2	3	3	1	3	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:50790662G>T	ENST00000311459.7	+	4	741		c.e4-1		RP11-247L20.4_ENST00000555403.1_lincRNA|ATP5S_ENST00000245448.6_Intron|ATP5S_ENST00000554438.1_Splice_Site|ATP5S_ENST00000358473.1_Splice_Site	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)						ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)	p.?(1)		breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TTTCTCCCCAGAGGGCCTAGA	0.398																																																	1	Unknown(1)	skin(1)											74	71	72					14																	50790662		2203	4300	6503	SO:0001630	splice_region_variant	0			U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.362-1G>T	14.37:g.50790662G>T			A8K1U3|D9N156|Q8WWX3|Q96F77	Splice_Site	SNP	-	e4-1	ENST00000311459.7	37	c.362-1	CCDS32075.1	14	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116033	0.37339	.	.	ENSG00000125375;ENSG00000125375;ENSG00000258447	ENST00000311459;ENST00000358473;ENST00000553905	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1238	0.97972	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP11-247L20.2;ATP5S	49860412	1.000000	0.71417	0.989000	0.46669	0.084000	0.17831	9.367000	0.97148	2.756000	0.94617	0.585000	0.79938	.	ATP5S	-	-	ENSG00000125375		0.398	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5S	HGNC	protein_coding	OTTHUMT00000410761.1		0	42	0	G	NM_015684	Intron	50790662	1			no_errors	ENST00000311459	ensembl	human	known	74_37	splice_site	8.00	23	2	SNP	1.000	T	T	50790662	G	T	50790662	5	4	151	1	0	0	0	0	0	0	1	0	1164	956	33	3	425	3	ATP5S	14	50790662	Splice_Site	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09		50790662	56558878	156	38521											
NIN	51199	genome.wustl.edu	37	chr14	51227050	51227050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcagctgaccacggtttCgtccagctgcttttcataat	7	14	8	12	2	1	1	1	1	0	0	3	1	2	1	2	1	4	5	2	1	1	5	rs200193453	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:51227050C>T	ENST00000382041.3	-	17	2114	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	NIN_ENST00000324330.9_Missense_Mutation_p.E642K|NIN_ENST00000530997.2_Missense_Mutation_p.E642K|NIN_ENST00000389868.3_Missense_Mutation_p.E642K|NIN_ENST00000382043.4_Missense_Mutation_p.E642K|NIN_ENST00000453196.1_Missense_Mutation_p.E642K|NIN_ENST00000245441.5_Missense_Mutation_p.E642K	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	642					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)	p.E648K(1)		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)					ACCACGGTTTCGTCCAGCTGC	0.463			T	PDGFRB	MPD								C|||	4	0.000798722	0.0023	0.0014	5008	,	,		21134	0		0	False		,,,				2504	0							Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	1	Substitution - Missense(1)	lung(1)						C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4361		0,1,2180	52	55	54		1924,1924,1924,1924	5	0.6	14		54	0,8522		0,0,4261	no	missense,missense,missense,missense	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	56,56,56,56	0,1,6441	TT,TC,CC		0.0,0.0229,0.0078	benign,benign,benign,benign	642/1378,642/2134,642/2047,642/2091	51227050	1,12883	2181	4261	6442	SO:0001583	missense	0			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.1924G>A	14.37:g.51227050C>T	ENSP00000371472:p.Glu642Lys		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.E642K	ENST00000382041.3	37	c.1924	CCDS32079.1	14	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	C|C	12.26|12.26	1.885058|1.885058	0.33255|0.33255	2.29E-4|2.29E-4	0.0|0.0	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T;T;T|.	0.12039|.	3.47;2.72;2.72;3.21;3.21;3.21|.	5.93|5.93	5.04|5.04	0.67666|0.67666	.|.	0.400583|.	0.29529|.	N|.	0.011887|.	T|T	0.70500|0.70500	0.3231|0.3231	L|L	0.59436|0.59436	1.845|1.845	0.39029|0.39029	D|D	0.959904|0.959904	P;D;D;P;D|.	0.65815|.	0.688;0.995;0.989;0.923;0.975|.	B;P;P;B;B|.	0.53102|.	0.105;0.718;0.634;0.165;0.4|.	T|T	0.71517|0.71517	-0.4569|-0.4569	10|5	0.10902|.	T|.	0.67|.	-3.8177|-3.8177	16.4556|16.4556	0.84011|0.84011	0.0:0.8691:0.1309:0.0|0.0:0.8691:0.1309:0.0	.|.	648;642;642;642;642|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	K|Q	642;625;642;642;648;642;642;642|132	ENSP00000245441:E642K;ENSP00000374518:E642K;ENSP00000371474:E642K;ENSP00000371472:E642K;ENSP00000324210:E642K;ENSP00000412391:E642K|.	ENSP00000245441:E642K|.	E|R	-|-	1|2	0|0	NIN|NIN	50296800|50296800	0.988000|0.988000	0.35896|0.35896	0.630000|0.630000	0.29268|0.29268	0.018000|0.018000	0.09664|0.09664	2.625000|2.625000	0.46452|0.46452	1.496000|1.496000	0.48567|0.48567	0.591000|0.591000	0.81541|0.81541	GAA|CGA	NIN	-	NULL	ENSG00000100503		0.463	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2		0	57	0	C	NM_182946		51227050	-1			no_errors	ENST00000245441	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.984	T	T	51227050	C	T	51227050	3	4	151	1	0	0	0	0	1	0	0	0	10456	893	31	1	4685	1	NIN	14	51227050	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	436388	51227050	56122490	157	38522											
C14orf135	64430	genome.wustl.edu	37	chr14	60592386	60592386	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactaatgattgataaagcaAgtttaggtccaatagaagac	18	10	8	5	0	0	4	0	2	0	2	1	4	1	4	1	1	2	2	1	1	9	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:60592386A>C	ENST00000406854.1	+	10	3666	c.3112A>C	c.(3112-3114)Agt>Cgt	p.S1038R	PCNXL4_ENST00000406949.1_Missense_Mutation_p.S804R|PCNXL4_ENST00000535349.1_Missense_Mutation_p.S245R|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S1038R|PCNXL4_ENST00000317623.4_Missense_Mutation_p.S804R			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1038						integral component of membrane (GO:0016021)											TGATAAAGCAAGTTTAGGTCC	0.318																																																	0													50	50	50					14																	60592386		2202	4299	6501	SO:0001583	missense	0			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.3112A>C	14.37:g.60592386A>C	ENSP00000384801:p.Ser1038Arg		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.S1038R	ENST00000406854.1	37	c.3112		14	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758900	0.69763	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.02	5.02	0.67125	.	0.181870	0.64402	D	0.000020	T	0.63640	0.2528	M	0.76002	2.32	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.70487	0.968;0.969	T	0.67760	-0.5587	10	0.59425	D	0.04	.	14.7363	0.69419	1.0:0.0:0.0:0.0	.	1038;804	Q63HM2;B5MC47	CN135_HUMAN;.	R	804;1038;804;1038;245	ENSP00000317396:S804R;ENSP00000384801:S1038R;ENSP00000385201:S804R;ENSP00000385713:S1038R;ENSP00000445644:S245R	ENSP00000317396:S804R	S	+	1	0	C14orf135	59662139	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.850000	0.75420	1.882000	0.54519	0.455000	0.32223	AGT	PCNXL4	-	pfam_Pecanex	ENSG00000126773		0.318	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	-	0	93	0	A	NM_022495		60592386	1	tier1	-	no_errors	ENST00000404681	ensembl	human	known	74_37	missense	21.05	59	16	SNP	1.000	C	C	60592386	A	C	60592386	3	2	151	1	0	0	0	0	1	0	0	0	1750	72	3	4	2440	4	C14orf135	14	60592386	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	9365336	60592386	46757154	158	38523											
RHOJ	57381	genome.wustl.edu	37	chr14	63757678	63757678	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgaagcaatcctcaccaTtttccaccccaagaaaaaga	16	8	5	12	0	1	4	1	2	0	2	3	4	3	4	5	0	1	1	5	0	5	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:63757678T>G	ENST00000316754.3	+	5	1043	c.581T>G	c.(580-582)aTt>aGt	p.I194S		NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	194					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ATCCTCACCATTTTCCACCCC	0.473																																																	0													129	125	126					14																	63757678		2203	4300	6503	SO:0001583	missense	0			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"RAS-like, family 7, member B", "ras homolog gene family, member J"	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.581T>G	14.37:g.63757678T>G	ENSP00000316729:p.Ile194Ser		Q96KC1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I194S	ENST00000316754.3	37	c.581	CCDS9757.1	14	.	.	.	.	.	.	.	.	.	.	T	26.5	4.745269	0.89663	.	.	ENSG00000126785	ENST00000316754	T	0.79454	-1.27	5.73	5.73	0.89815	.	0.843286	0.10683	N	0.646211	T	0.82245	0.4995	L	0.41824	1.3	0.80722	D	1	P	0.39424	0.673	P	0.51615	0.675	T	0.79398	-0.1820	10	0.87932	D	0	.	16.0209	0.80493	0.0:0.0:0.0:1.0	.	194	Q9H4E5	RHOJ_HUMAN	S	194	ENSP00000316729:I194S	ENSP00000316729:I194S	I	+	2	0	RHOJ	62827431	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.005000	0.88553	2.186000	0.69663	0.459000	0.35465	ATT	RHOJ	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase	ENSG00000126785		0.473	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOJ	HGNC	protein_coding	OTTHUMT00000276975.3	-	0	59	0	T			63757678	1	tier1	-	no_errors	ENST00000316754	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	G	G	63757678	T	G	63757678	3	3	151	1	0	0	0	0	1	0	0	0	13386	1493	52	4	599	4	RHOJ	14	63757678	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	3165292	63757678	43591862	159	38524											
SLC24A4	123041	genome.wustl.edu	37	chr14	92908448	92908448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagagactccatctgagcGaagatgtggctggagccacc	10	8	12	11	1	2	3	1	1	1	2	3	6	3	4	3	2	2	1	3	2	1	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:92908448G>A	ENST00000532405.1	+	5	635	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	SLC24A4_ENST00000298877.1_Missense_Mutation_p.E120K|SLC24A4_ENST00000351924.5_Missense_Mutation_p.E120K|SLC24A4_ENST00000531433.1_Missense_Mutation_p.E137K|SLC24A4_ENST00000393265.2_Missense_Mutation_p.E73K			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	137					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCATCTGAGCGAAGATGTGGC	0.557																																					NSCLC(10;315 435 10383 28450 38798)												0													93	84	87					14																	92908448		2203	4300	6503	SO:0001583	missense	0			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.409G>A	14.37:g.92908448G>A	ENSP00000431840:p.Glu137Lys		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.E137K	ENST00000532405.1	37	c.409	CCDS9903.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.071336|5.071336	0.93950|0.93950	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079;ENST00000554461|ENST00000525557	T;T;T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Sodium/calcium exchanger membrane region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78130|0.78130	0.4235|0.4235	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.72338|.	0.977;0.962;0.97|.	T|T	0.77913|0.77913	-0.2410|-0.2410	10|5	0.48119|.	T|.	0.1|.	.|.	19.4129|19.4129	0.94683|0.94683	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137;73;137|.	Q8NFF2-3;Q8NFF2-2;Q8NFF2|.	.;.;NCKX4_HUMAN|.	K|Q	73;137;137;120;120;28;28|21	ENSP00000376948:E73K;ENSP00000433302:E137K;ENSP00000431840:E137K;ENSP00000298877:E120K;ENSP00000337789:E120K;ENSP00000452099:E28K|.	ENSP00000298877:E120K|.	E|R	+|+	1|2	0|0	SLC24A4|SLC24A4	91978201|91978201	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.586000|0.586000	0.36452|0.36452	9.524000|9.524000	0.98036|0.98036	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GAA|CGA	SLC24A4	-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	ENSG00000140090		0.557	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	HGNC	protein_coding	OTTHUMT00000395240.1	-	0	24	0	G	NM_153646		92908448	1	tier1	-	no_errors	ENST00000532405	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	A	A	92908448	G	A	92908448	3	1	151	1	0	0	0	0	1	0	0	0	14513	1059	37	1	376	1	SLC24A4	14	92908448	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	29150770	92908448	14441092	160	38525											
CCNK	8812	genome.wustl.edu	37	chr14	99976510	99976510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagaccggaagcctcccctCgctgctgccttaggtgaggc	6	7	13	15	2	0	2	0	1	0	1	2	3	1	3	5	3	3	3	5	3	2	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:99976510C>T	ENST00000389879.5	+	11	1257	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	CCNK_ENST00000555049.1_Intron|RP11-688G15.3_ENST00000557733.1_RNA	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	378					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				AGCCTCCCCTCGCTGCTGCCT	0.662																																																	0													8	11	10					14																	99976510		2017	4161	6178	SO:0001819	synonymous_variant	0			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.1134C>T	14.37:g.99976510C>T			Q59FT6|Q86U16|Q96B63|Q9NNY9	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.L378	ENST00000389879.5	37	c.1134	CCDS45160.1	14																																																																																			CCNK	-	NULL	ENSG00000090061		0.662	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNK	HGNC	protein_coding	OTTHUMT00000413721.1	-	0	102	0	C			99976510	1	tier1	-	no_errors	ENST00000389879	ensembl	human	known	74_37	silent	29.57	81	34	SNP	0.003	T	T	99976510	C	T	99976510	2	4	151	1	0	0	0	0	0	0	0	1	2937	871	31	1		1	CCNK	14	99976510	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	7068062	99976510	7373030	161	38526											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102500661	102500661	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaacggccttgcctttcaGttccgtacagatattgccag	8	12	10	11	2	1	1	1	0	0	1	2	1	2	1	4	2	4	3	4	2	3	7			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:102500661G>A	ENST00000360184.4	+	56	10790		c.e56-1		DYNC1H1_ENST00000556791.1_Splice_Site|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						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)	p.?(1)		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						TTGCCTTTCAGTTCCGTACAG	0.517																																																	1	Unknown(1)	central_nervous_system(1)											117	93	101					14																	102500661		2203	4300	6503	SO:0001630	splice_region_variant	0			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.10627-1G>A	14.37:g.102500661G>A			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	-	e56-1	ENST00000360184.4	37	c.10627-1	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422610	0.83559	.	.	ENSG00000197102	ENST00000360184;ENST00000553423	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8062	0.92038	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101570414	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.755000	0.98912	2.538000	0.85594	0.591000	0.81541	.	DYNC1H1	-	-	ENSG00000197102		0.517	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1		0	40	0	G	NM_001376	Intron	102500661	1			no_errors	ENST00000360184	ensembl	human	known	74_37	splice_site	5.71	32	2	SNP	1.000	A	A	102500661	G	A	102500661	5	1	151	1	0	0	0	0	0	0	1	0	4855	1043	36	3	10848	3	DYNC1H1	14	102500661	Splice_Site	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	2524151	102500661	4848879	162	38527											
OCA2	4948	genome.wustl.edu	37	chr15	28000611	28000611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacacaaccatcattgggaAgcccagcctgaaatacaaag	16	5	9	11	0	1	1	1	1	0	0	1	3	1	3	3	2	4	0	3	2	5	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:28000611A>G	ENST00000354638.3	-	24	2595	c.2440T>C	c.(2440-2442)Ttc>Ctc	p.F814L	OCA2_ENST00000353809.5_Missense_Mutation_p.F790L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	814					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ATCATTGGGAAGCCCAGCCTG	0.443									Oculocutaneous Albinism																																								0													140	119	126					15																	28000611		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2440T>C	15.37:g.28000611A>G	ENSP00000346659:p.Phe814Leu		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.F814L	ENST00000354638.3	37	c.2440	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247613	0.59103	.	.	ENSG00000104044	ENST00000354638;ENST00000353809	T;T	0.77229	-1.08;-1.08	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	L	0.52573	1.65	0.80722	D	1	D;P	0.59357	0.985;0.592	P;B	0.60609	0.877;0.348	T	0.83308	-0.0024	10	0.54805	T	0.06	-24.6446	12.4805	0.55839	1.0:0.0:0.0:0.0	.	790;814	Q04671-2;Q04671	.;P_HUMAN	L	814;790	ENSP00000346659:F814L;ENSP00000261276:F790L	ENSP00000261276:F790L	F	-	1	0	OCA2	25674206	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	5.005000	0.63972	2.208000	0.71279	0.460000	0.39030	TTC	OCA2	-	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.443	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	-	0	37	0	A	NM_000275		28000611	-1	tier1	-	no_errors	ENST00000354638	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	G	G	28000611	A	G	28000611	3	3	151	1	0	0	0	0	1	0	0	0	10854	72	3	4	80	4	OCA2	15	28000611	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09		28000611	74530781	163	38528											
C15orf55	256646	genome.wustl.edu	37	chr15	34640383	34640383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttggtgacaggggatggggGcccttgcctcagtggggctg	4	9	20	8	0	1	1	1	1	0	0	1	2	1	2	2	7	1	2	2	7	0	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:34640383G>A	ENST00000333756.4	+	2	385	c.230G>A	c.(229-231)gGc>gAc	p.G77D	NUTM1_ENST00000537011.1_Missense_Mutation_p.G105D|NUTM1_ENST00000438749.3_Missense_Mutation_p.G95D	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	77	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGGGATGGGGGCCCTTGCCTC	0.557																																																	0													85	85	85					15																	34640383		2201	4298	6499	SO:0001583	missense	0			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.230G>A	15.37:g.34640383G>A	ENSP00000329448:p.Gly77Asp		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	NULL	p.G77D	ENST00000333756.4	37	c.230	CCDS32190.1	15	.	.	.	.	.	.	.	.	.	.	G	8.766	0.924767	0.18056	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.28069	1.63;1.63;1.63	5.69	0.232	0.15381	Nuclear Testis  protein, N-terminal (1);	0.364393	0.23444	N	0.048118	T	0.27900	0.0687	M	0.78049	2.395	0.09310	N	1	B;B;B	0.25390	0.059;0.125;0.041	B;B;B	0.26202	0.066;0.039;0.067	T	0.34925	-0.9809	10	0.72032	D	0.01	.	1.4586	0.02391	0.1636:0.1441:0.396:0.2964	.	95;105;77	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	D	105;95;77;77	ENSP00000444896:G105D;ENSP00000407031:G95D;ENSP00000329448:G77D	ENSP00000329448:G77D	G	+	2	0	C15orf55	32427675	0.048000	0.20356	0.006000	0.13384	0.440000	0.31957	0.390000	0.20768	0.057000	0.16193	-0.136000	0.14681	GGC	NUTM1	-	NULL	ENSG00000184507		0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTM1	HGNC	protein_coding	OTTHUMT00000418026.1		0	42	0	G	NM_175741		34640383	1			no_errors	ENST00000333756	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.007	A	A	34640383	G	A	34640383	3	1	151	1	0	0	0	0	1	0	0	0	1808	1203	42	3	236	3	C15orf55	15	34640383	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	6639772	34640383	67891009	164	38529											
C15orf56	644809	genome.wustl.edu	37	chr15	40544554	40544554	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgcaggcaggtccccGcggctgtggccaggccaggg	5	3	19	14	3	0	0	0	0	0	0	1	1	1	1	5	7	1	3	5	7	0	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:40544554G>T	ENST00000319503.3	-	2	439	c.418C>A	c.(418-420)Cgg>Agg	p.R140R	PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000542403.2_5'Flank|PAK6_ENST00000455577.2_Intron|C15orf56_ENST00000559727.1_3'UTR|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000260404.4_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	140										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		GCAGGTCCCCGCGGCTGTGGC	0.706																																																	0													4	6	6					15																	40544554		1981	3899	5880	SO:0001819	synonymous_variant	0				CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.418C>A	15.37:g.40544554G>T				Silent	SNP	NULL	p.R140	ENST00000319503.3	37	c.418	CCDS32197.1	15																																																																																			C15orf56	-	NULL	ENSG00000176753		0.706	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf56	HGNC	protein_coding	OTTHUMT00000418370.2	-	0	14	0	G	NM_001039905		40544554	-1	tier1	-	no_errors	ENST00000319503	ensembl	human	known	74_37	silent	56.25	7	9	SNP	0.000	T	T	40544554	G	T	40544554	2	4	151	1	0	0	0	0	0	0	0	1	1809	1086	38	2		2	C15orf56	15	40544554	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	5904171	40544554	61986838	165	38530											
UBR1	197131	genome.wustl.edu	37	chr15	43339472	43339472	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgcccaacctgtcttcGgatttcttccattccctgca	5	15	7	14	1	2	0	0	0	2	0	5	1	4	1	4	1	3	2	4	1	1	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:43339472G>A	ENST00000290650.4	-	14	1633	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.R519*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	519					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)	p.R519*(1)		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)		ACCTGTCTTCGGATTTCTTCC	0.423																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											243	219	227					15																	43339472		2203	4299	6502	SO:0001587	stop_gained	0				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.1555C>T	15.37:g.43339472G>A	ENSP00000290650:p.Arg519*		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Nonsense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R519*	ENST00000290650.4	37	c.1555	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.761605	0.96906	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	.	.	.	4.61	3.49	0.39957	.	0.171941	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-4.193	11.5884	0.50931	0.0:0.0:0.1566:0.8434	.	.	.	.	X	519	.	ENSP00000290650:R519X	R	-	1	2	UBR1	41126764	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.830000	0.55768	0.912000	0.36772	-0.474000	0.04947	CGA	UBR1	-	NULL	ENSG00000159459		0.423	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1		0	48	0	G	NM_174916		43339472	-1			no_errors	ENST00000290650	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	A	A	43339472	G	A	43339472	4	1	151	1	0	0	0	0	0	1	0	0	16950	1124	39	1	3830	1	UBR1	15	43339472	Nonsense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	2794918	43339472	59191920	166	38531											
DMXL2	23312	genome.wustl.edu	37	chr15	51742397	51742397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggccagagccttaatagCtgagtcatgggcctggaacg	11	7	13	10	1	1	2	1	1	0	1	1	3	1	3	3	3	3	1	3	3	4	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:51742397C>T	ENST00000251076.5	-	42	9117	c.8830G>A	c.(8830-8832)Gct>Act	p.A2944T	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.A2945T|DMXL2_ENST00000449909.3_Missense_Mutation_p.A2308T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2944						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)		GCCTTAATAGCTGAGTCATGG	0.478																																																	0													116	102	107					15																	51742397		2196	4293	6489	SO:0001583	missense	0			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.8830G>A	15.37:g.51742397C>T	ENSP00000251076:p.Ala2944Thr		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2945T	ENST00000251076.5	37	c.8833	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453866	0.63290	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.42131	0.98;0.98;0.98	5.48	5.48	0.80851	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	0.47395	0.1443	L	0.43598	1.365	0.58432	D	0.999997	P;D;P;B	0.61080	0.767;0.989;0.919;0.028	B;P;P;B	0.54499	0.273;0.754;0.61;0.042	T	0.21042	-1.0257	10	0.21540	T	0.41	.	15.0111	0.71550	0.1429:0.8571:0.0:0.0	.	2945;2308;2944;2945	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	T	2944;2945;2308;510	ENSP00000251076:A2944T;ENSP00000441858:A2945T;ENSP00000400855:A2308T	ENSP00000251076:A2944T	A	-	1	0	DMXL2	49529689	0.997000	0.39634	0.227000	0.23927	0.984000	0.73092	3.629000	0.54266	2.554000	0.86153	0.655000	0.94253	GCT	DMXL2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000104093		0.478	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2		0	60	0	C	NM_015263		51742397	-1			no_errors	ENST00000543779	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.994	T	T	51742397	C	T	51742397	3	4	151	1	0	0	0	0	1	0	0	0	4609	797	28	3	288	3	DMXL2	15	51742397	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	8402925	51742397	50788995	167	38532											
DMXL2	23312	genome.wustl.edu	37	chr15	51828604	51828604	+	Silent	SNP	T	T	C	0	1	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	tgttttacagggtccattaaTctacttaatttattgtctga	10	19	6	6	0	2	1	0	1	2	0	3	1	3	1	1	1	2	1	1	1	5	8			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:51828604T>C	ENST00000251076.5	-	12	2360	c.2073A>G	c.(2071-2073)agA>agG	p.R691R	DMXL2_ENST00000543779.2_Silent_p.R691R|DMXL2_ENST00000449909.3_Silent_p.R691R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	691						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)		GGTCCATTAATCTACTTAATT	0.368																																																	0													119	122	121					15																	51828604		2195	4293	6488	SO:0001819	synonymous_variant	0			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.2073A>G	15.37:g.51828604T>C			B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R691	ENST00000251076.5	37	c.2073	CCDS10141.1	15																																																																																			DMXL2	-	NULL	ENSG00000104093		0.368	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	-	0	34	0	T	NM_015263		51828604	-1	tier1	-	no_errors	ENST00000543779	ensembl	human	known	74_37	silent	23.40	36	11	SNP	0.000	C	C	51828604	T	C	51828604	2	2	151	1	0	0	0	0	0	0	0	1	4609	1432	50	4		4	DMXL2	15	51828604	Silent	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	86207	51828604	50702788	168	38533											
HERC1	8925	genome.wustl.edu	37	chr15	63970452	63970452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgttcggtgaaggataCggatgagctgaatagtggcc	9	10	16	6	2	1	3	0	3	1	0	2	5	1	5	1	5	2	2	1	5	4	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:63970452C>T	ENST00000443617.2	-	37	6749	c.6662G>A	c.(6661-6663)cGt>cAt	p.R2221H	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	2221					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						GTGAAGGATACGGATGAGCTG	0.453																																																	0													47	44	45					15																	63970452		1927	4144	6071	SO:0001583	missense	0			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.6662G>A	15.37:g.63970452C>T	ENSP00000390158:p.Arg2221His		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R2221H	ENST00000443617.2	37	c.6662	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.190666	0.94923	.	.	ENSG00000103657	ENST00000443617	T	0.36340	1.26	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.59947	-0.7358	10	0.87932	D	0	.	19.8247	0.96612	0.0:1.0:0.0:0.0	.	2221	Q15751	HERC1_HUMAN	H	2221	ENSP00000390158:R2221H	ENSP00000390158:R2221H	R	-	2	0	HERC1	61757505	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.818000	0.86416	2.696000	0.92011	0.655000	0.94253	CGT	HERC1	-	NULL	ENSG00000103657		0.453	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	45	0	C	NM_003922		63970452	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	63970452	C	T	63970452	3	4	151	1	0	0	0	0	1	0	0	0	7084	536	19	1	8091	1	HERC1	15	63970452	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	12141848	63970452	38560940	169	38534											
IGDCC3	9543	genome.wustl.edu	37	chr15	65625621	65625621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccagccggccctgtgccGttctcctcacccgggtgcca	4	7	10	20	3	2	0	1	0	1	0	3	0	2	0	8	2	3	1	8	2	0	1	rs560181953		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:65625621G>T	ENST00000327987.4	-	6	1207	c.956C>A	c.(955-957)aCg>aAg	p.T319K	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	319	Ig-like C2-type 3.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCTGTGCCGTTCTCCTCAC	0.637																																																	0													81	63	69					15																	65625621		2201	4299	6500	SO:0001583	missense	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.956C>A	15.37:g.65625621G>T	ENSP00000332773:p.Thr319Lys		O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T319K	ENST00000327987.4	37	c.956	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020559	0.75275	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.27557	1.66	5.17	5.17	0.71159	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.57522	-0.7797	10	0.72032	D	0.01	-7.6566	18.69	0.91580	0.0:0.0:1.0:0.0	.	319	Q8IVU1	IGDC3_HUMAN	K	319;182	ENSP00000332773:T319K	ENSP00000332773:T319K	T	-	2	0	IGDCC3	63412674	1.000000	0.71417	0.295000	0.24960	0.307000	0.27823	9.751000	0.98889	2.419000	0.82065	0.655000	0.94253	ACG	IGDCC3	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000174498		0.637	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	-	0	70	0	G	NM_004884		65625621	-1	tier1	-	no_errors	ENST00000327987	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.998	T	T	65625621	G	T	65625621	3	4	151	1	0	0	0	0	1	0	0	0	7595	1145	40	2	1524	2	IGDCC3	15	65625621	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	1655169	65625621	36905771	170	38535											
MAP2K1	5604	genome.wustl.edu	37	chr15	66727483	66727483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagaactgaaggatgacGactttgagaagatcagtgag	14	8	15	4	1	1	6	1	4	0	3	1	10	1	7	0	2	1	0	0	2	3	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:66727483G>T	ENST00000307102.5	+	2	730	c.199G>T	c.(199-201)Gac>Tac	p.D67Y		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	67					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.D67N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	GAAGGATGACGACTTTGAGAA	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM076269	MAP2K1	M							188	174	179					15																	66727483		2201	4299	6500	SO:0001583	missense	0			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.199G>T	15.37:g.66727483G>T	ENSP00000302486:p.Asp67Tyr			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D67Y	ENST00000307102.5	37	c.199	CCDS10216.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.789340|4.789340	0.90367|0.90367	.|.	.|.	ENSG00000169032|ENSG00000169032	ENST00000307102|ENST00000425818	D|.	0.94000|.	-3.33|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Protein kinase-like domain (1);|.	0.091006|.	0.85682|.	D|.	0.000000|.	T|T	0.76133|0.76133	0.3945|0.3945	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.995|.	D;D|.	0.74674|.	0.984;0.927|.	T|T	0.76211|0.76211	-0.3042|-0.3042	10|5	0.87932|.	D|.	0|.	-32.7633|-32.7633	17.8302|17.8302	0.88680|0.88680	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	45;67|.	B4DFY5;Q02750|.	.;MP2K1_HUMAN|.	Y|L	67|6	ENSP00000302486:D67Y|.	ENSP00000302486:D67Y|.	D|R	+|+	1|2	0|0	MAP2K1|MAP2K1	64514537|64514537	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.983000|0.983000	0.72400|0.72400	9.723000|9.723000	0.98772|0.98772	2.443000|2.443000	0.82685|0.82685	0.591000|0.591000	0.81541|0.81541	GAC|CGA	MAP2K1	-	superfamily_Kinase-like_dom	ENSG00000169032		0.547	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	HGNC	protein_coding	OTTHUMT00000256906.4	-	0	47	0	G			66727483	1	tier1	-	no_errors	ENST00000307102	ensembl	human	known	74_37	missense	25.00	38	13	SNP	1.000	T	T	66727483	G	T	66727483	3	4	151	1	0	0	0	0	1	0	0	0	9274	1058	37	2	205	2	MAP2K1	15	66727483	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	1101862	66727483	35803909	171	38536											
PAQR5	54852	genome.wustl.edu	37	chr15	69689881	69689881	+	Missense_Mutation	SNP	A	A	G	1	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	tgcttatccgtacacctgggActccctccccatcttctaca	7	12	5	17	1	2	0	0	0	2	0	5	1	5	1	5	1	3	2	5	1	3	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:69689881A>G	ENST00000340965.3	+	7	1255	c.587A>G	c.(586-588)gAc>gGc	p.D196G	RP11-253M7.1_ENST00000558617.1_RNA|PAQR5_ENST00000561153.1_Missense_Mutation_p.D196G|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.D196G	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	196					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						TACACCTGGGACTCCCTCCCC	0.527																																																	0													193	157	169					15																	69689881		2199	4298	6497	SO:0001583	missense	0				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"membrane progestin receptor gamma"	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.587A>G	15.37:g.69689881A>G	ENSP00000343877:p.Asp196Gly		Q8IXU2	Missense_Mutation	SNP	pfam_HlyIII-related	p.D196G	ENST00000340965.3	37	c.587	CCDS10232.1	15	.	.	.	.	.	.	.	.	.	.	A	17.38	3.376058	0.61735	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.26223	1.75;1.75	5.12	3.96	0.45880	.	0.139890	0.64402	D	0.000004	T	0.27765	0.0683	L	0.31804	0.96	0.58432	D	0.99999	D	0.59357	0.985	P	0.60949	0.881	T	0.08617	-1.0713	10	0.11485	T	0.65	-13.3002	7.9162	0.29818	0.8174:0.0:0.0:0.1826	.	196	Q9NXK6	MPRG_HUMAN	G	196	ENSP00000378803:D196G;ENSP00000343877:D196G	ENSP00000343877:D196G	D	+	2	0	PAQR5	67476935	1.000000	0.71417	0.997000	0.53966	0.725000	0.41563	6.086000	0.71352	0.929000	0.37192	0.459000	0.35465	GAC	PAQR5	-	pfam_HlyIII-related	ENSG00000137819		0.527	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR5	HGNC	protein_coding	OTTHUMT00000416671.1		0	78	0	A	NM_017705		69689881	1			no_errors	ENST00000340965	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	G	G	69689881	A	G	69689881	3	3	151	1	0	0	0	0	1	0	0	0	11477	275	10	4	605	4	PAQR5	15	69689881	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	2962398	69689881	32841511	172	38537											
C15orf42	90381	genome.wustl.edu	37	chr15	90127587	90127587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcatcagagacattttcaGaaaccagtcagaatttttct	14	13	6	8	0	4	3	3	0	1	3	4	4	4	3	1	0	2	1	1	0	2	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:90127587G>T	ENST00000268138.7	+	3	1110	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	RP11-429B14.3_ENST00000560477.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.Q334H|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	335					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)										GACATTTTCAGAAACCAGTCA	0.473																																																	0													74	72	72					15																	90127587		1839	4088	5927	SO:0001583	missense	0			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.1005G>T	15.37:g.90127587G>T	ENSP00000268138:p.Gln335His		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.Q335H	ENST00000268138.7	37	c.1005	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	G	2.950	-0.216937	0.06101	.	.	ENSG00000140534	ENST00000268138	T	0.15256	2.44	5.02	0.236	0.15471	.	0.447210	0.24461	N	0.038331	T	0.12987	0.0315	L	0.46157	1.445	0.09310	N	1	B	0.28208	0.203	B	0.31337	0.128	T	0.20140	-1.0284	10	0.33940	T	0.23	-7.5398	5.1512	0.15011	0.4827:0.0:0.3806:0.1366	.	335	Q7Z2Z1	TICRR_HUMAN	H	335	ENSP00000268138:Q335H	ENSP00000268138:Q335H	Q	+	3	2	C15orf42	87928591	0.710000	0.27896	0.837000	0.33122	0.087000	0.18053	0.751000	0.26348	-0.150000	0.11195	-0.157000	0.13467	CAG	TICRR	-	NULL	ENSG00000140534		0.473	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	-	0	52	0	G	NM_152259		90127587	1	tier1	-	no_errors	ENST00000268138	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.133	T	T	90127587	G	T	90127587	3	4	151	1	0	0	0	0	1	0	0	0	1801	933	33	3	1015	3	C15orf42	15	90127587	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	20437706	90127587	12403805	173	38538											
ANPEP	290	genome.wustl.edu	37	chr15	90346713	90346713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcctcggacaggaagctgGagagcatcctgaggactgag	10	6	15	10	2	0	3	0	2	0	1	3	7	2	6	2	4	2	2	2	4	1	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:90346713G>T	ENST00000300060.6	-	9	1776	c.1463C>A	c.(1462-1464)tCc>tAc	p.S488Y	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	488	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)	caggaagctGGAGAGCATCCT	0.667																																					NSCLC(30;827 977 2459 19669 26125)												0													24	23	23					15																	90346713		2199	4296	6495	SO:0001583	missense	0			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.1463C>A	15.37:g.90346713G>T	ENSP00000300060:p.Ser488Tyr		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S488Y	ENST00000300060.6	37	c.1463	CCDS10356.1	15	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480104	0.63849	.	.	ENSG00000166825	ENST00000300060	T	0.04970	3.52	4.88	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.21881	0.0527	M	0.87827	2.91	0.42377	D	0.992474	P	0.48694	0.914	P	0.57776	0.827	T	0.00563	-1.1669	10	0.51188	T	0.08	.	9.6163	0.39694	0.0:0.0:0.7914:0.2086	.	488	P15144	AMPN_HUMAN	Y	488	ENSP00000300060:S488Y	ENSP00000300060:S488Y	S	-	2	0	ANPEP	88147717	1.000000	0.71417	0.350000	0.25708	0.542000	0.35054	4.430000	0.59907	2.240000	0.73641	0.484000	0.47621	TCC	ANPEP	-	NULL	ENSG00000166825		0.667	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1		0	97	0	G			90346713	-1			no_errors	ENST00000300060	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.934	T	T	90346713	G	T	90346713	3	4	151	1	0	0	0	0	1	0	0	0	710	1174	41	3	1492	3	ANPEP	15	90346713	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	219126	90346713	12184679	174	38539											
CLCN7	1186	genome.wustl.edu	37	chr16	1498731	1498731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcctcccagtgcaggaaggGcacactctgcagctgaatgt	9	7	13	12	0	1	1	0	1	1	0	2	2	2	2	2	3	3	4	2	3	2	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:1498731G>A	ENST00000382745.4	-	20	2439	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S	CLCN7_ENST00000448525.1_Missense_Mutation_p.P588S|CLCN7_ENST00000262318.8_Missense_Mutation_p.P588S|LA16c-390E6.5_ENST00000566287.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	612					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)				TGCAGGAAGGGCACACTCTGC	0.667																																																	0													80	81	81					16																	1498731		2196	4300	6496	SO:0001583	missense	0			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.1834C>T	16.37:g.1498731G>A	ENSP00000372193:p.Pro612Ser		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.P612S	ENST00000382745.4	37	c.1834	CCDS32361.1	16	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000182	0.93227	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93547	-3.24;-3.24	5.27	5.27	0.74061	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96867	0.8977	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.984;0.998;1.0	D	0.97470	1.0040	10	0.87932	D	0	-51.1495	17.4426	0.87569	0.0:0.0:1.0:0.0	.	588;612;61	E9PDB9;P51798;B3KUD9	.;CLCN7_HUMAN;.	S	588;565;612;554	ENSP00000410907:P588S;ENSP00000372193:P612S	ENSP00000262318:P565S	P	-	1	0	CLCN7	1438732	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.569000	0.98170	2.451000	0.82905	0.561000	0.74099	CCC	CLCN7	-	superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000103249		0.667	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	-	0	110	0	G	NM_001287		1498731	-1	tier1	-	no_errors	ENST00000382745	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A	A	1498731	G	A	1498731	3	1	151	1	0	0	0	0	1	0	0	0	3475	1203	42	3	607	3	CLCN7	16	1498731	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09		1498731	88856022	175	38540											
TBL3	10607	genome.wustl.edu	37	chr16	2024606	2024606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagggcagcgttacccGcctgtggaaggcgatacaca	11	5	14	11	3	0	1	0	0	0	1	0	3	0	2	2	3	3	3	2	3	4	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:2024606G>A	ENST00000568546.1	+	5	433	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	102					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						AGCGTTACCCGCCTGTGGAAG	0.677																																					Melanoma(118;616 1651 35077 38081 48633)												0													29	32	31					16																	2024606		2198	4296	6494	SO:0001583	missense	0			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.305G>A	16.37:g.2024606G>A	ENSP00000454836:p.Arg102His		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R102H	ENST00000568546.1	37	c.305	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887188	0.72410	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.237542	0.39146	N	0.001458	T	0.80412	0.4618	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	T	0.83293	-0.0032	9	0.49607	T	0.09	-15.7473	17.2223	0.86961	0.0:0.0:1.0:0.0	.	102	Q12788	TBL3_HUMAN	H	102	.	ENSP00000331815:R102H	R	+	2	0	TBL3	1964607	1.000000	0.71417	0.945000	0.38365	0.697000	0.40408	9.375000	0.97178	2.301000	0.77427	0.561000	0.74099	CGC	TBL3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000183751		0.677	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	HGNC	protein_coding	OTTHUMT00000250615.3	-	0	64	0	G	NM_006453		2024606	1	tier1	-	no_errors	ENST00000568546	ensembl	human	known	74_37	missense	24.53	40	13	SNP	1.000	A	A	2024606	G	A	2024606	3	1	151	1	0	0	0	0	1	0	0	0	15690	1087	38	1	323	1	TBL3	16	2024606	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	525875	2024606	88330147	176	38541											
NLRC3	197358	genome.wustl.edu	37	chr16	3613531	3613531	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatggccctcctggatgcGccatagtaatacgcggctgc	9	8	12	12	3	0	1	0	0	0	1	1	2	1	2	3	3	3	2	3	3	4	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:3613531G>A	ENST00000301749.7	-	0	1812				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCTGGATGCGCCATAGTAAT	0.617																																																	0													27	30	29					16																	3613531		2034	4191	6225			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613531G>A			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.G516	ENST00000301749.7	37	c.1548		16																																																																																			NLRC3	-	NULL	ENSG00000167984		0.617	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		-	0	55	0	G	NM_178844		3613531	-1	tier1	-	no_errors	ENST00000448023	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.000	A	A	3613531	G	A	3613531	1	1	151	0	1	0	0	0	0	0	0	0	10507	1074	38	1		1	NLRC3	16	3613531	RNA	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	1588925	3613531	86741222	177	38542											
NUP93	9688	genome.wustl.edu	37	chr16	56839482	56839482	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgggagcaagtgaaacagCgaattctgcacacactgctg	13	7	12	9	1	1	1	0	1	1	0	1	3	1	2	0	1	5	3	0	1	3	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:56839482C>T	ENST00000308159.5	+	5	548	c.427C>T	c.(427-429)Cga>Tga	p.R143*	NUP93_ENST00000569842.1_Nonsense_Mutation_p.R143*|NUP93_ENST00000542526.1_Nonsense_Mutation_p.R20*|NUP93_ENST00000564887.1_Nonsense_Mutation_p.R20*|NUP93_ENST00000569595.1_3'UTR	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	143					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						AGTGAAACAGCGAATTCTGCA	0.468																																					Colon(33;610 796 1305 1705 38917)												0													101	93	96					16																	56839482		2198	4300	6498	SO:0001587	stop_gained	0			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.427C>T	16.37:g.56839482C>T	ENSP00000310668:p.Arg143*		B3KPQ8|Q14705	Nonsense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.R143*	ENST00000308159.5	37	c.427	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027824	0.75390	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	.	.	.	5.19	3.0	0.34707	.	0.046433	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.237	11.1775	0.48607	0.6145:0.3855:0.0:0.0	.	.	.	.	X	143;20	.	ENSP00000310668:R143X	R	+	1	2	NUP93	55396983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.715000	0.37971	1.106000	0.41623	0.561000	0.74099	CGA	NUP93	-	NULL	ENSG00000102900		0.468	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	-	0	67	0	C	NM_014669		56839482	1	tier1	-	no_errors	ENST00000308159	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T	T	56839482	C	T	56839482	4	4	151	1	0	0	0	0	0	1	0	0	10811	760	27	1	441	1	NUP93	16	56839482	Nonsense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	53225951	56839482	33515271	178	38543											
HSD11B2	3291	genome.wustl.edu	37	chr16	67470654	67470654	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgacctcaccccagttgtAgatgccatcacagatgcgct	9	9	8	15	2	2	2	2	0	0	2	3	3	3	2	5	0	2	3	5	0	1	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:67470654A>T	ENST00000326152.5	+	5	1098	c.966A>T	c.(964-966)gtA>gtT	p.V322V	ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	322					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)		CCCCAGTTGTAGATGCCATCA	0.622																																																	0													95	86	89					16																	67470654		2198	4300	6498	SO:0001819	synonymous_variant	0			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.966A>T	16.37:g.67470654A>T			A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH	p.V322	ENST00000326152.5	37	c.966	CCDS10837.1	16																																																																																			HSD11B2	-	NULL	ENSG00000176387		0.622	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B2	HGNC	protein_coding	OTTHUMT00000268826.3	-	0	50	0	A	NM_000196		67470654	1	tier1	-	no_errors	ENST00000326152	ensembl	human	known	74_37	silent	35.00	26	14	SNP	0.554	T	T	67470654	A	T	67470654	2	4	151	1	0	0	0	0	0	0	0	1	7404	407	15	5		5	HSD11B2	16	67470654	Silent	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	10631172	67470654	22884099	179	38544											
PLA2G15	23659	genome.wustl.edu	37	chr16	68289777	68289777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cagtatgggcaacatgtacaCgctctactttctgcagcggc	9	10	10	12	2	2	0	0	0	2	0	2	0	2	0	0	2	5	5	0	2	4	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:68289777C>T	ENST00000219345.5	+	5	694	c.611C>T	c.(610-612)aCg>aTg	p.T204M	PLA2G15_ENST00000444212.2_Intron|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_Intron|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	204					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						AACATGTACACGCTCTACTTT	0.637																																																	0													41	44	43					16																	68289777		2198	4300	6498	SO:0001583	missense	0			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.611C>T	16.37:g.68289777C>T	ENSP00000219345:p.Thr204Met		B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.T204M	ENST00000219345.5	37	c.611	CCDS10864.1	16	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791135	0.50102	.	.	ENSG00000103066	ENST00000219345	D	0.95205	-3.64	5.88	1.8	0.24995	.	0.175049	0.64402	N	0.000008	D	0.91294	0.7255	L	0.58354	1.805	0.80722	D	1	B	0.34290	0.447	B	0.35182	0.197	D	0.85208	0.1019	10	0.32370	T	0.25	-36.3033	9.8568	0.41090	0.0:0.7195:0.0:0.2805	.	204	Q8NCC3	PAG15_HUMAN	M	204	ENSP00000219345:T204M	ENSP00000219345:T204M	T	+	2	0	PLA2G15	66847278	0.790000	0.28787	0.972000	0.41901	0.996000	0.88848	1.372000	0.34261	0.117000	0.18138	0.591000	0.81541	ACG	PLA2G15	-	pfam_LACT/PDAT_acylTrfase	ENSG00000103066		0.637	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G15	HGNC	protein_coding	OTTHUMT00000268888.2	-	0	61	0	C	NM_012320		68289777	1	tier1	-	no_errors	ENST00000219345	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.996	T	T	68289777	C	T	68289777	3	4	151	1	0	0	0	0	1	0	0	0	12031	536	19	1	629	1	PLA2G15	16	68289777	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	819123	68289777	22064976	180	38545											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77389970	77389970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatcgtgaatcatacCaaagctgaaacagaatgaag	16	9	7	9	1	2	4	1	3	1	1	4	4	2	4	2	0	3	1	2	0	6	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:77389970C>T	ENST00000282849.5	-	9	1745	c.1327G>A	c.(1327-1329)Ggt>Agt	p.G443S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	443	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGAATCATACCAAAGCTGAAA	0.393																																																	0													94	87	89					16																	77389970		2198	4300	6498	SO:0001583	missense	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1327G>A	16.37:g.77389970C>T	ENSP00000282849:p.Gly443Ser		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G443S	ENST00000282849.5	37	c.1327	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352195	0.82132	.	.	ENSG00000140873	ENST00000282849	D	0.99186	-5.53	5.19	5.19	0.71726	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.986;0.999	D	0.98792	1.0736	10	0.87932	D	0	.	18.2505	0.90000	0.0:1.0:0.0:0.0	.	443;443	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	S	443	ENSP00000282849:G443S	ENSP00000282849:G443S	G	-	1	0	ADAMTS18	75947471	1.000000	0.71417	0.998000	0.56505	0.261000	0.26267	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	GGT	ADAMTS18	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000140873		0.393	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	-	0	60	0	C			77389970	-1	tier1	-	no_errors	ENST00000282849	ensembl	human	known	74_37	missense	45.45	23	20	SNP	1.000	T	T	77389970	C	T	77389970	3	4	151	1	0	0	0	0	1	0	0	0	263	594	21	3	2398	3	ADAMTS18	16	77389970	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	9100193	77389970	12964783	181	38546											
VAT1L	57687	genome.wustl.edu	37	chr16	77822749	77822749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggggctcaacaagctgcGgctcttcaggaaggccatgc	8	6	15	12	2	3	0	2	0	1	0	3	1	3	1	1	6	4	3	1	6	3	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:77822749G>A	ENST00000302536.2	+	1	323	c.170G>A	c.(169-171)cGg>cAg	p.R57Q		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	57							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AACAAGCTGCGGCTCTTCAGG	0.682																																																	0													22	27	25					16																	77822749		2179	4265	6444	SO:0001583	missense	0			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.170G>A	16.37:g.77822749G>A	ENSP00000303129:p.Arg57Gln		Q8IYW8	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.R57Q	ENST00000302536.2	37	c.170	CCDS32492.1	16	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325314	0.60743	.	.	ENSG00000171724	ENST00000302536	T	0.43688	0.94	4.79	4.79	0.61399	GroES-like (1);	0.102345	0.64402	D	0.000008	T	0.27063	0.0663	L	0.34521	1.04	0.53688	D	0.999978	P	0.39782	0.688	B	0.23018	0.043	T	0.09885	-1.0654	10	0.22706	T	0.39	-11.2125	16.5741	0.84632	0.0:0.0:1.0:0.0	.	57	Q9HCJ6	VAT1L_HUMAN	Q	57	ENSP00000303129:R57Q	ENSP00000303129:R57Q	R	+	2	0	VAT1L	76380250	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.337000	0.65941	2.489000	0.83994	0.555000	0.69702	CGG	VAT1L	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000171724		0.682	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAT1L	HGNC	protein_coding	OTTHUMT00000434010.1	-	0	160	0	G	NM_020927		77822749	1	tier1	-	no_errors	ENST00000302536	ensembl	human	known	74_37	missense	36.36	63	36	SNP	1.000	A	A	77822749	G	A	77822749	3	1	151	1	0	0	0	0	1	0	0	0	17179	1116	39	1	172	1	VAT1L	16	77822749	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	432779	77822749	12532004	182	38547											
CHRNE	1145	genome.wustl.edu	37	chr17	4805918	4805918	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agggtgggggtagcttaccaGtgagatgagattcgtcaggg	9	9	18	5	1	1	2	1	2	0	2	2	4	1	2	1	4	2	2	1	4	2	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:4805918G>T	ENST00000293780.4	-	2	197	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	63					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	TAGCTTACCAGTGAGATGAGA	0.542																																																	0													159	169	166					17																	4805918		2203	4300	6503	SO:0001583	missense	0			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.187C>A	17.37:g.4805918G>T	ENSP00000293780:p.Leu63Met		D3DTK6	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.L63M	ENST00000293780.4	37	c.187	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355744	0.61293	.	.	ENSG00000108556	ENST00000293780	T	0.81163	-1.46	5.11	1.9	0.25705	Neurotransmitter-gated ion-channel ligand-binding (3);	0.074132	0.56097	D	0.000033	D	0.84120	0.5402	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81686	-0.0820	10	0.56958	D	0.05	.	5.8807	0.18854	0.3298:0.0:0.6702:0.0	.	63	Q04844	ACHE_HUMAN	M	63	ENSP00000293780:L63M	ENSP00000293780:L63M	L	-	1	2	CHRNE	4746697	0.982000	0.34865	0.763000	0.31416	0.741000	0.42261	1.848000	0.39309	0.751000	0.32900	0.655000	0.94253	CTG	CHRNE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt	ENSG00000108556		0.542	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNE	HGNC	protein_coding	OTTHUMT00000207560.3	-	0	67	0	G			4805918	-1	tier1	-	no_errors	ENST00000293780	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.874	T	T	4805918	G	T	4805918	3	4	151	1	0	0	0	0	1	0	0	0	3402	1020	36	3	1338	3	CHRNE	17	4805918	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09		4805918	76389292	183	38548											
PITPNM3	83394	genome.wustl.edu	37	chr17	6381945	6381945	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgctcgatgacggtggcGacagcatcctggtactgcgg	6	8	15	12	5	0	1	0	1	0	0	3	3	1	1	1	4	3	4	1	4	1	1	rs149964592	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:6381945G>T	ENST00000262483.8	-	7	786	c.699C>A	c.(697-699)gtC>gtA	p.V233V	PITPNM3_ENST00000421306.3_Silent_p.V197V	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	233					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGACGGTGGCGACAGCATCCT	0.627																																																	0													76	63	68					17																	6381945		2203	4300	6503	SO:0001819	synonymous_variant	0			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.699C>A	17.37:g.6381945G>T			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.V233	ENST00000262483.8	37	c.699	CCDS11076.1	17																																																																																			PITPNM3	-	NULL	ENSG00000091622		0.627	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2		0	53	0	G	NM_031220		6381945	-1			no_errors	ENST00000262483	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.201	T	T	6381945	G	T	6381945	2	4	151	1	0	0	0	0	0	0	0	1	11991	1045	37	2		2	PITPNM3	17	6381945	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	1576027	6381945	74813265	184	38549											
TP53	7157	genome.wustl.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	0	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	GMAF=0.0005	0	32	0	C	NM_000546		7577120	-1	tier1	rs28934576	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	73.68	5	14	SNP	0.864	T	T	7577120	C	T	7577120	3	4	151	1	0	0	0	0	1	0	0	0	16429	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	1195175	7577120	73618090	185	38550											
MYH4	4622	genome.wustl.edu	37	chr17	10367852	10367852	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaactgcaattgttgcaaaGtactggatgacacgcttcgt	11	12	10	8	2	0	1	0	1	0	0	1	2	0	2	0	1	4	6	0	1	4	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:10367852G>T	ENST00000255381.2	-	7	695	c.585C>A	c.(583-585)taC>taA	p.Y195*	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	195	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)	p.Y195*(2)		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						TTGTTGCAAAGTACTGGATGA	0.428																																																	2	Substitution - Nonsense(2)	lung(2)											102	98	99					17																	10367852		2203	4300	6503	SO:0001587	stop_gained	0				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.585C>A	17.37:g.10367852G>T	ENSP00000255381:p.Tyr195*			Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Y195*	ENST00000255381.2	37	c.585	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.198728	0.94997	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.12	3.09	0.35607	.	0.000000	0.34268	U	0.004112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2563	0.54625	0.1471:0.0:0.8529:0.0	.	.	.	.	X	195	.	ENSP00000255381:Y195X	Y	-	3	2	MYH4	10308577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.764000	0.62264	1.278000	0.44430	0.650000	0.86243	TAC	MYH4	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000264424		0.428	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1		0	57	0	G	NM_017533		10367852	-1			no_errors	ENST00000255381	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	1.000	T	T	10367852	G	T	10367852	4	4	151	1	0	0	0	0	0	1	0	0	10075	1024	36	3	5370	3	MYH4	17	10367852	Nonsense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	2790732	10367852	70827358	186	38551											
DNAH9	1770	genome.wustl.edu	37	chr17	11713657	11713657	+	Frame_Shift_Del	DEL	T	T	-																															agtggctgatgagaggttccTtgtgctcatcaatgatcttt																										TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:11713657delT	ENST00000262442.4	+	45	8746	c.8678delT	c.(8677-8679)cttfs	p.L2893fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.L2893fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2893	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGAGGTTCCTTGTGCTCATC	0.458																																																	0													183	167	172					17																	11713657		2203	4300	6503	SO:0001589	frameshift_variant	0			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.8678delT	17.37:g.11713657delT	ENSP00000262442:p.Leu2893fs		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V2894fs	ENST00000262442.4	37	c.8678	CCDS11160.1	17																																																																																			DNAH9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000007174		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0	55	0	T	NM_001372		11713657	1	tier1		no_errors	ENST00000262442	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	0.999	-	-	11713657	T	-	11713657	7	5	151	1	0	1	0	1	0	0	0	0	4622	1609	56	0	8856	0	DNAH9	17	11713657	Frame_Shift_Del	DEL	T	TCGA-R6-A8WG-01A-11D-A37C-09	1345805	11713657	69481553	187	38552											
MYO18A	399687	genome.wustl.edu	37	chr17	27442774	27442774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgctggtgcttgaagatgGctgaggacagctcctccagg	7	10	15	9	0	0	3	0	2	0	1	2	4	2	4	2	4	3	4	2	4	1	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:27442774G>A	ENST00000527372.1	-	12	2315	c.2135C>T	c.(2134-2136)gCc>gTc	p.A712V	MYO18A_ENST00000354329.4_Missense_Mutation_p.A712V|MYO18A_ENST00000531253.1_Missense_Mutation_p.A712V|MYO18A_ENST00000533112.1_Missense_Mutation_p.A712V	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	712	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)			CTTGAAGATGGCTGAGGACAG	0.637																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0													32	40	37					17																	27442774		2056	4193	6249	SO:0001583	missense	0			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.2135C>T	17.37:g.27442774G>A	ENSP00000437073:p.Ala712Val		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.A712V	ENST00000527372.1	37	c.2135	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871759	0.91587	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.44	5.44	0.79542	Myosin head, motor domain (2);	0.153604	0.64402	D	0.000014	D	0.89952	0.6864	L	0.45698	1.435	0.54753	D	0.99998	P;P;P;P;P	0.48834	0.55;0.873;0.873;0.873;0.916	B;B;B;B;P	0.49799	0.292;0.298;0.385;0.298;0.622	D	0.90617	0.4556	10	0.62326	D	0.03	.	19.2788	0.94042	0.0:0.0:1.0:0.0	.	381;324;712;712;712	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	V	712;712;712;712;712;324	ENSP00000346291:A712V;ENSP00000435932:A712V;ENSP00000434228:A712V;ENSP00000437073:A712V	ENSP00000346291:A712V	A	-	2	0	MYO18A	24466900	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	6.386000	0.73186	2.567000	0.86603	0.655000	0.94253	GCC	MYO18A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000196535		0.637	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1		0	63	0	G	NM_078471		27442774	-1			no_errors	ENST00000354329	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	27442774	G	A	27442774	3	1	151	1	0	0	0	0	1	0	0	0	10103	1203	42	3	4153	3	MYO18A	17	27442774	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	15729117	27442774	53752436	188	38553											
NF1	4763	genome.wustl.edu	37	chr17	29576057	29576057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaacctccttcagatgactGaaaagttcttccatgccatc	11	11	7	12	0	2	3	1	2	1	1	5	4	4	4	4	1	2	1	4	1	3	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:29576057G>A	ENST00000358273.4	+	30	4413	c.4030G>A	c.(4030-4032)Gaa>Aaa	p.E1344K	NF1_ENST00000356175.3_Missense_Mutation_p.E1344K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1344	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.E1344K(2)	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)		TCAGATGACTGAAAAGTTCTT	0.398			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	soft_tissue(7)|urinary_tract(2)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	GRCh37	CD086550	NF1	D							150	137	141					17																	29576057		2203	4300	6503	SO:0001583	missense	0	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.4030G>A	17.37:g.29576057G>A	ENSP00000351015:p.Glu1344Lys		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.E1344K	ENST00000358273.4	37	c.4030	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559862	0.86335	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.82893	-1.66;-1.66;-1.66	5.74	5.74	0.90152	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	L	0.41415	1.275	0.80722	D	1	B;B;B;B	0.25441	0.126;0.034;0.081;0.018	B;B;B;B	0.30782	0.12;0.038;0.046;0.068	T	0.72909	-0.4149	10	0.21540	T	0.41	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	1344;394;1344;1344	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	K	1344;1344;1010	ENSP00000351015:E1344K;ENSP00000348498:E1344K;ENSP00000389907:E1010K	ENSP00000348498:E1344K	E	+	1	0	NF1	26600183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.488000	0.81441	2.873000	0.98535	0.563000	0.77884	GAA	NF1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP	ENSG00000196712		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2		0	45	0	G	NM_000267		29576057	1			no_errors	ENST00000358273	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	A	A	29576057	G	A	29576057	3	1	151	1	0	0	0	0	1	0	0	0	10395	1291	45	3	4209	3	NF1	17	29576057	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	2133283	29576057	51619153	189	38554											
ERBB2	2064	genome.wustl.edu	37	chr17	37881323	37881323	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ggatgagctacctggaggatGtgcggctcgtacacagggac	9	7	16	9	2	0	1	0	1	0	0	1	5	0	5	1	5	4	3	1	5	2	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:37881323G>A	ENST00000269571.5	+	21	2674	c.2515G>A	c.(2515-2517)Gtg>Atg	p.V839M	ERBB2_ENST00000445658.2_Missense_Mutation_p.V563M|ERBB2_ENST00000584601.1_Missense_Mutation_p.V809M|ERBB2_ENST00000406381.2_Missense_Mutation_p.V809M|ERBB2_ENST00000541774.1_Missense_Mutation_p.V824M|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.V809M|ERBB2_ENST00000584450.1_Missense_Mutation_p.V839M			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	839	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)	CCTGGAGGATGTGCGGCTCGT	0.597		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													68	59	62					17																	37881323		2203	4300	6503	SO:0001583	missense	0			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.2515G>A	17.37:g.37881323G>A	ENSP00000269571:p.Val839Met		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V839M	ENST00000269571.5	37	c.2515	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159959	0.38119	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.83510	0.5270	N	0.10837	0.055	0.80722	D	1	P;D;P	0.89917	0.93;1.0;0.93	P;D;P	0.81914	0.536;0.995;0.536	D	0.86901	0.2054	9	0.62326	D	0.03	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	563;824;839	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	M	809;824;563;839;809	ENSP00000385185:V809M;ENSP00000446466:V824M;ENSP00000404047:V563M;ENSP00000269571:V839M;ENSP00000443562:V809M	ENSP00000269571:V839M	V	+	1	0	ERBB2	35134849	0.996000	0.38824	0.971000	0.41717	0.953000	0.61014	3.036000	0.49767	2.651000	0.90000	0.563000	0.77884	GTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141736		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0	34	0	G			37881323	1	tier1	-	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	52.00	12	13	SNP	0.993	A	A	37881323	G	A	37881323	3	1	151	1	0	0	0	0	1	0	0	0	5222	1377	48	3	2597	3	ERBB2	17	37881323	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	8305266	37881323	43313887	190	38555											
ETV4	2118	genome.wustl.edu	37	chr17	41622935	41622935	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgctcacgctgctgaaGgtgtagggcacttgctggtc	5	9	16	11	3	1	1	1	1	0	0	2	1	1	1	0	4	2	6	0	4	2	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:41622935G>T	ENST00000319349.5	-	2	349	c.51C>A	c.(49-51)acC>acA	p.T17T	ETV4_ENST00000591713.1_Silent_p.T17T|ETV4_ENST00000393664.2_Silent_p.T17T|ETV4_ENST00000538265.1_Intron|ETV4_ENST00000545089.1_Silent_p.T17T|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000545954.1_Intron	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	17					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	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)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CGCTGCTGAAGGTGTAGGGCA	0.741			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)			Dom	yes		17	17q21	2118	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"		"M, E"	0													16	16	16					17																	41622935		1984	3817	5801	SO:0001819	synonymous_variant	0			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"E1A enhancer binding protein"	600711	"ets variant gene 4 (E1A enhancer-binding protein, E1AF)"			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.51C>A	17.37:g.41622935G>T			A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom	p.T17	ENST00000319349.5	37	c.51	CCDS11465.1	17																																																																																			ETV4	-	pfam_ETS_PEA3_N	ENSG00000175832		0.741	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV4	HGNC	protein_coding	OTTHUMT00000453489.1	-	0	72	0	G	NM_001986		41622935	-1	tier1	-	no_errors	ENST00000319349	ensembl	human	known	74_37	silent	16.13	78	15	SNP	1.000	T	T	41622935	G	T	41622935	2	4	151	1	0	0	0	0	0	0	0	1	5297	987	35	3		3	ETV4	17	41622935	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	3741612	41622935	39572275	191	38556											
C17orf46	124783	genome.wustl.edu	37	chr17	43332527	43332527	+	Missense_Mutation	SNP	A	A	G	1	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	gggacgtggctggtggctggAgaagctggatttgccctttg	5	11	18	7	1	0	1	0	0	0	1	0	4	0	3	1	6	2	3	1	6	1	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:43332527A>G	ENST00000331780.4	-	4	1117	c.1022T>C	c.(1021-1023)cTc>cCc	p.L341P	SPATA32_ENST00000543122.1_Missense_Mutation_p.L320P|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	341					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											TGGTGGCTGGAGAAGCTGGAT	0.562																																																	0													95	81	86					17																	43332527		2203	4300	6503	SO:0001583	missense	0			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.1022T>C	17.37:g.43332527A>G	ENSP00000331532:p.Leu341Pro		Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	NULL	p.L341P	ENST00000331780.4	37	c.1022	CCDS32669.1	17	.	.	.	.	.	.	.	.	.	.	A	19.33	3.807804	0.70797	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.57907	0.37;0.37	4.38	4.38	0.52667	.	0.352689	0.20920	N	0.083283	T	0.63177	0.2489	L	0.48642	1.525	0.52099	D	0.999947	D	0.89917	1.0	D	0.76575	0.988	T	0.64411	-0.6414	10	0.62326	D	0.03	-16.4966	10.144	0.42751	1.0:0.0:0.0:0.0	.	341	Q96LK8	CQ046_HUMAN	P	341;320	ENSP00000331532:L341P;ENSP00000442724:L320P	ENSP00000331532:L341P	L	-	2	0	C17orf46	40688310	0.996000	0.38824	0.894000	0.35097	0.269000	0.26545	3.945000	0.56637	1.965000	0.57142	0.418000	0.28097	CTC	SPATA32	-	NULL	ENSG00000184361		0.562	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA32	HGNC	protein_coding	OTTHUMT00000450946.1		0	68	0	A	NM_152343		43332527	-1			no_errors	ENST00000331780	ensembl	human	known	74_37	missense	5.13	111	6	SNP	0.965	G	G	43332527	A	G	43332527	3	3	151	1	0	0	0	0	1	0	0	0	1863	304	11	4	140	4	C17orf46	17	43332527	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	1709592	43332527	37862683	192	38557											
CDC27	996	genome.wustl.edu	37	chr17	45216210	45216210	+	Silent	SNP	A	A	C	1	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	gagtagatctccatgccttcAactctataattctcaatcct	11	14	4	12	0	4	1	2	0	3	1	7	2	5	1	3	0	2	1	3	0	5	5	rs62075659		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000527547.1_Silent_p.V532V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318																																																	2	Substitution - coding silent(2)	large_intestine(2)											36	40	39					17																	45216210		2200	4297	6497	SO:0001819	synonymous_variant	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1599T>G	17.37:g.45216210A>C			G3V1C4|Q16349|Q96F35	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V539	ENST00000066544.3	37	c.1617	CCDS11509.1	17																																																																																			CDC27	-	pfscan_TPR-contain_dom	ENSG00000004897		0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2		0	36	0	A			45216210	-1			no_errors	ENST00000531206	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.877	C	C	45216210	A	C	45216210	2	2	151	1	0	0	0	0	0	0	0	1	3073	117	5	4		4	CDC27	17	45216210	Silent	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	1883683	45216210	35979000	193	38558											
BPTF	2186	genome.wustl.edu	37	chr17	65822444	65822444	+	Missense_Mutation	SNP	A	A	G	1	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	ggagccatagtacctacagcAgcactccaggtacccaccca	12	5	8	16	0	0	0	0	0	0	0	1	1	1	1	5	2	6	4	5	2	4	4	rs142703799		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:65822444A>G	ENST00000321892.4	+	1	665	c.604A>G	c.(604-606)Agc>Ggc	p.S202G	BPTF_ENST00000335221.5_Missense_Mutation_p.S202G|BPTF_ENST00000424123.3_Missense_Mutation_p.S63G|BPTF_ENST00000306378.6_Missense_Mutation_p.S202G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	202					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)			TACCTACAGCAGCACTCCAGG	0.597																																																	0													60	56	58					17																	65822444		2201	4298	6499	SO:0001583	missense	0			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.604A>G	17.37:g.65822444A>G	ENSP00000315454:p.Ser202Gly		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S202G	ENST00000321892.4	37	c.604		17	.	.	.	.	.	.	.	.	.	.	A	6.243	0.412944	0.11812	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	D;D;D	0.81579	-1.51;-1.51;-1.51	3.15	0.675	0.17952	.	.	.	.	.	T	0.76154	0.3948	L	0.29908	0.895	0.41428	D	0.987842	P;P;P	0.52577	0.596;0.954;0.718	B;D;B	0.66351	0.098;0.943;0.281	T	0.70597	-0.4828	9	0.07175	T	0.84	3.1294	6.1178	0.20136	0.6701:0.1684:0.0:0.1614	.	202;202;202	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	G	107;202;202;202;63	ENSP00000307208:S202G;ENSP00000334351:S202G;ENSP00000315454:S202G	ENSP00000307208:S202G	S	+	1	0	BPTF	63252906	1.000000	0.71417	0.016000	0.15963	0.001000	0.01503	7.626000	0.83164	-0.002000	0.14469	-0.636000	0.03981	AGC	BPTF	-	NULL	ENSG00000171634		0.597	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding			0	42	0	A	NM_182641, NM_004459		65822444	1			no_errors	ENST00000321892	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	G	G	65822444	A	G	65822444	3	3	151	1	0	0	0	0	1	0	0	0	1499	188	7	4	606	4	BPTF	17	65822444	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	20606234	65822444	15372766	194	38559											
ITGB4	3691	genome.wustl.edu	37	chr17	73732144	73732144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcagaccgaggacgctGctccatgggccagtgtgtgt	6	9	14	12	2	1	1	0	0	1	1	2	3	2	2	3	2	2	3	3	2	0	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:73732144G>T	ENST00000200181.3	+	14	1857	c.1670G>T	c.(1669-1671)tGc>tTc	p.C557F	ITGB4_ENST00000450894.3_Missense_Mutation_p.C557F|ITGB4_ENST00000449880.2_Missense_Mutation_p.C557F|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.C557F|ITGB4_ENST00000579662.1_Missense_Mutation_p.C557F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	557	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGAGGACGCTGCTCCATGGGC	0.617																																																	0													202	166	178					17																	73732144		2203	4300	6503	SO:0001583	missense	0				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.1670G>T	17.37:g.73732144G>T	ENSP00000200181:p.Cys557Phe		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.C557F	ENST00000200181.3	37	c.1670	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407156	0.42715	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92911	-3.13;-3.13;-3.13	4.95	4.95	0.65309	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	H	0.96662	3.86	0.80722	D	1	D;D;D;P;P	0.89917	1.0;1.0;0.994;0.953;0.953	D;D;D;P;P	0.78314	0.988;0.991;0.937;0.904;0.904	D	0.98951	1.0794	10	0.66056	D	0.02	.	18.2412	0.89968	0.0:0.0:1.0:0.0	.	517;557;557;557;557	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	F	473;557;557;557	ENSP00000200181:C557F;ENSP00000344079:C557F;ENSP00000400217:C557F	ENSP00000200181:C557F	C	+	2	0	ITGB4	71243739	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.201000	0.95017	2.285000	0.76669	0.558000	0.71614	TGC	ITGB4	-	pirsf_Integrin_bsu-4,pfam_EGF_extracell	ENSG00000132470		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1		0	23	0	G			73732144	1			no_errors	ENST00000200181	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	73732144	G	T	73732144	3	4	151	1	0	0	0	0	1	0	0	0	7924	1319	46	3	1720	3	ITGB4	17	73732144	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	7909700	73732144	7463066	195	38560											
EVPL	2125	genome.wustl.edu	37	chr17	74004925	74004925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatcttctcctgcaccgtgGgaggccgcttctcgagctcc	4	11	11	15	3	3	1	0	1	3	0	6	3	4	2	4	2	2	3	4	2	0	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:74004925G>T	ENST00000301607.3	-	22	4614	c.4361C>A	c.(4360-4362)cCc>cAc	p.P1454H	EVPL_ENST00000586740.1_Missense_Mutation_p.P1476H|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1454	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						CTGCACCGTGGGAGGCCGCTT	0.637																																																	0													103	101	101					17																	74004925		2203	4300	6503	SO:0001583	missense	0			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.4361C>A	17.37:g.74004925G>T	ENSP00000301607:p.Pro1454His		A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.P1454H	ENST00000301607.3	37	c.4361	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743884	0.30865	.	.	ENSG00000167880	ENST00000301607	T	0.62941	-0.01	5.1	-0.069	0.13753	.	0.195501	0.44902	D	0.000419	T	0.70465	0.3227	M	0.74881	2.28	0.19300	N	0.999978	D;D	0.63046	0.992;0.991	P;P	0.57548	0.823;0.671	T	0.65380	-0.6182	10	0.66056	D	0.02	-6.1684	11.4268	0.50015	0.0733:0.3417:0.585:0.0	.	1476;1454	B7ZLH8;Q92817	.;EVPL_HUMAN	H	1454	ENSP00000301607:P1454H	ENSP00000301607:P1454H	P	-	2	0	EVPL	71516520	1.000000	0.71417	0.004000	0.12327	0.526000	0.34562	4.044000	0.57361	0.138000	0.18790	-0.176000	0.13171	CCC	EVPL	-	NULL	ENSG00000167880		0.637	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	-	0	62	0	G	NM_001988		74004925	-1	tier1	-	no_errors	ENST00000301607	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.164	T	T	74004925	G	T	74004925	3	4	151	1	0	0	0	0	1	0	0	0	5308	1232	43	3	1744	3	EVPL	17	74004925	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	272781	74004925	7190285	196	38561											
SRP68	6730	genome.wustl.edu	37	chr17	74046583	74046583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcattgattcaaacaggcGctccttagtttcttcgcttt	8	15	8	10	2	2	1	1	1	1	0	4	2	3	1	1	1	2	4	1	1	2	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:74046583G>A	ENST00000307877.2	-	9	1164	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	SRP68_ENST00000602720.1_5'UTR|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000355113.5_Missense_Mutation_p.R234C|SRP68_ENST00000539137.1_Missense_Mutation_p.R297C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	335					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)|nucleolus (GO:0005730)|ribosome (GO:0005840)|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)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCAAACAGGCGCTCCTTAGTT	0.517																																																	0													110	94	100					17																	74046583		2203	4300	6503	SO:0001583	missense	0			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1003C>T	17.37:g.74046583G>A	ENSP00000312066:p.Arg335Cys		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	NULL	p.R335C	ENST00000307877.2	37	c.1003	CCDS11738.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.390853	0.95988	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.87	5.87	0.94306	.	0.045759	0.85682	D	0.000000	T	0.62792	0.2457	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.997;0.994	P;P	0.49953	0.627;0.627	T	0.63808	-0.6553	9	0.56958	D	0.05	-18.7764	19.1942	0.93681	0.0:0.0:1.0:0.0	.	297;335	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	75;297;335;335;304;234	.	ENSP00000307756:R304C	R	-	1	0	SRP68	71558178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.175000	0.94831	2.785000	0.95823	0.655000	0.94253	CGC	SRP68	-	NULL	ENSG00000167881		0.517	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	HGNC	protein_coding	OTTHUMT00000449487.1		0	35	0	G	NM_014230		74046583	-1			no_errors	ENST00000307877	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A	A	74046583	G	A	74046583	3	1	151	1	0	0	0	0	1	0	0	0	15203	1087	38	1	912	1	SRP68	17	74046583	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	41658	74046583	7148627	197	38562											
ZACN	353174	genome.wustl.edu	37	chr17	74076366	74076366	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactggagggaccagagcccCcaggctcgagtagaccagga	11	3	15	12	1	0	2	0	0	0	2	1	7	0	5	4	4	1	2	4	4	1	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:74076366C>T	ENST00000334586.5	+	5	488	c.405C>T	c.(403-405)ccC>ccT	p.P135P	ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	135					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						ACCAGAGCCCCCAGGCTCGAG	0.667																																																	0													56	54	55					17																	74076366		2203	4300	6503	SO:0001819	synonymous_variant	0			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.405C>T	17.37:g.74076366C>T			Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM	p.P135	ENST00000334586.5	37	c.405	CCDS11740.2	17																																																																																			ZACN	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	ENSG00000186919		0.667	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZACN	HGNC	protein_coding	OTTHUMT00000347827.2	-	0	74	0	C	NM_180990		74076366	1	tier1	-	no_errors	ENST00000334586	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.000	T	T	74076366	C	T	74076366	2	4	151	1	0	0	0	0	0	0	0	1	17559	610	22	3		3	ZACN	17	74076366	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	29783	74076366	7118844	198	38563											
LAMA1	284217	genome.wustl.edu	37	chr18	7012081	7012081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccagggggttgtctgcGcggagagcgaaggtgccctc	6	6	17	12	3	1	1	0	0	1	1	2	3	1	1	2	4	4	1	2	4	1	1	rs144126568		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr18:7012081G>A	ENST00000389658.3	-	24	3513	c.3420C>T	c.(3418-3420)cgC>cgT	p.R1140R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1140	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)				GGTTGTCTGCGCGGAGAGCGA	0.562																																																	0								A		2,4404	4.2+/-10.8	0,2,2201	42	39	40		3420	-11.8	0	18	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	LAMA1	NM_005559.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		1140/3076	7012081	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.3420C>T	18.37:g.7012081G>A				Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R1140	ENST00000389658.3	37	c.3420	CCDS32787.1	18																																																																																			LAMA1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000101680		0.562	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	25	0	G	NM_005559		7012081	-1	tier1	rs144126568	no_errors	ENST00000389658	ensembl	human	known	74_37	silent	46.81	25	22	SNP	0.000	A	A	7012081	G	A	7012081	2	1	151	1	0	0	0	0	0	0	0	1	8633	1074	38	1		1	LAMA1	18	7012081	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09		7012081	71065167	199	38564											
LAMA3	3909	genome.wustl.edu	37	chr18	21489259	21489259	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagagatgctgccagtaaGgtgagtgtgtccccacgtgg	8	8	15	10	1	0	2	0	1	0	1	1	3	1	2	4	2	2	2	4	2	1	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr18:21489259G>T	ENST00000313654.9	+	55	7399	c.7158G>T	c.(7156-7158)aaG>aaT	p.K2386N	LAMA3_ENST00000269217.6_Splice_Site_p.K777N|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Splice_Site_p.K2330N|LAMA3_ENST00000587184.1_Splice_Site_p.K721N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2386	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)					CTGCCAGTAAGGTGAGTGTGT	0.418																																																	0													111	99	103					18																	21489259		2203	4300	6503	SO:0001630	splice_region_variant	0			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.7158+1G>T	18.37:g.21489259G>T			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.K2386N	ENST00000313654.9	37	c.7158	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585504	0.86748	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.52295	0.67;0.67;0.67	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin II (1);	.	.	.	.	T	0.70474	0.3228	M	0.80183	2.485	0.58432	D	0.999998	D;D;D;D	0.63880	0.975;0.975;0.979;0.993	P;P;P;D	0.62955	0.813;0.813;0.87;0.909	T	0.73956	-0.3819	9	0.72032	D	0.01	.	19.6052	0.95577	0.0:0.0:1.0:0.0	.	721;777;2330;2386	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	N	2386;2330;777	ENSP00000324532:K2386N;ENSP00000382432:K2330N;ENSP00000269217:K777N	ENSP00000269217:K777N	K	+	3	2	LAMA3	19743257	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.868000	0.87116	2.625000	0.88918	0.655000	0.94253	AAG	LAMA3	-	pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf	ENSG00000053747		0.418	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	-	0	71	0	G	NM_000227, NM_198129	Missense_Mutation	21489259	1	tier1	-	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	21489259	G	T	21489259	5	4	151	1	0	0	0	0	0	0	1	0	8635	1014	35	3	7551	3	LAMA3	18	21489259	Splice_Site	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	14477178	21489259	56587989	200	38565											
DSG2	1829	genome.wustl.edu	37	chr18	29125877	29125877	+	Frame_Shift_Del	DEL	A	A	-																															agctgaagtttgcctgggtcAaaaaatagatataaataagg																								rs267605167		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr18:29125877delA	ENST00000261590.8	+	15	2737	c.2528delA	c.(2527-2529)caafs	p.Q843fs	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	843					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)			TGCCTGGGTCAAAAAATAGAT	0.378																																																	0													77	76	77					18																	29125877		1818	4079	5897	SO:0001589	frameshift_variant	0			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.2528delA	18.37:g.29125877delA	ENSP00000261590:p.Gln843fs		Q4KKU6	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.I845fs	ENST00000261590.8	37	c.2528	CCDS42423.1	18																																																																																			DSG2	-	NULL	ENSG00000046604		0.378	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1		0	47	0	A	NM_001943		29125877	1	tier1		no_errors	ENST00000261590	ensembl	human	known	74_37	frame_shift_del	15.00	17	3	DEL	0.333	-	-	29125877	A	-	29125877	7	5	151	1	0	1	0	1	0	0	0	0	4791	130	5	0	2586	0	DSG2	18	29125877	Frame_Shift_Del	DEL	A	TCGA-R6-A8WG-01A-11D-A37C-09	7636618	29125877	48951371	201	38566											
SETBP1	26040	genome.wustl.edu	37	chr18	42643146	42643146	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagatcctgtccaccaagaAgaacctggaccacgtgaaca	15	5	8	13	1	0	4	0	1	0	3	2	5	2	5	5	1	2	0	5	1	5	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr18:42643146A>C	ENST00000282030.5	+	6	4570	c.4274A>C	c.(4273-4275)aAg>aCg	p.K1425T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1425						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)		TCCACCAAGAAGAACCTGGAC	0.557									Schinzel-Giedion syndrome																																								0													54	51	52					18																	42643146		2203	4300	6503	SO:0001583	missense	0	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.4274A>C	18.37:g.42643146A>C	ENSP00000282030:p.Lys1425Thr		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.K1425T	ENST00000282030.5	37	c.4274	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863282	0.71949	.	.	ENSG00000152217	ENST00000282030	T	0.71817	-0.6	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	L	0.29908	0.895	0.32473	N	0.542582	D	0.76494	0.999	D	0.72075	0.976	T	0.81938	-0.0704	10	0.72032	D	0.01	.	15.1602	0.72778	1.0:0.0:0.0:0.0	.	1425	Q9Y6X0	SETBP_HUMAN	T	1425	ENSP00000282030:K1425T	ENSP00000282030:K1425T	K	+	2	0	SETBP1	40897144	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.382000	0.66213	2.113000	0.64589	0.460000	0.39030	AAG	SETBP1	-	NULL	ENSG00000152217		0.557	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0	38	0	A	NM_001130110		42643146	1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	missense	54.17	11	13	SNP	1.000	C	C	42643146	A	C	42643146	3	2	151	1	0	0	0	0	1	0	0	0	14174	72	3	4	4485	4	SETBP1	18	42643146	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	13517269	42643146	35434102	202	38567											
RNF152	220441	genome.wustl.edu	37	chr18	59483338	59483338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gctggctcccgggcagcaggCggcagcccatgtctccgggc	4	5	16	16	3	1	0	0	0	1	0	3	0	2	0	3	5	2	5	3	5	0	0	rs377278409		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr18:59483338C>T	ENST00000312828.3	-	2	1458	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	120					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)				GGGCAGCAGGCGGCAGCCCAT	0.657																																																	0								C	HIS/ARG	0,4406		0,0,2203	52	58	56		359	5	1	18		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF152	NM_173557.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	120/204	59483338	1,13005	2203	4300	6503	SO:0001583	missense	0			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.359G>A	18.37:g.59483338C>T	ENSP00000316628:p.Arg120His		B3KV99|Q52LA4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R120H	ENST00000312828.3	37	c.359	CCDS11978.1	18	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905489	0.52333	0.0	1.16E-4	ENSG00000176641	ENST00000312828	D	0.84370	-1.84	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.75932	0.3917	N	0.17082	0.46	0.58432	D	0.999997	B	0.15141	0.012	B	0.08055	0.003	T	0.69359	-0.5166	10	0.25751	T	0.34	-12.2411	18.4187	0.90579	0.0:1.0:0.0:0.0	.	120	Q8N8N0	RN152_HUMAN	H	120	ENSP00000316628:R120H	ENSP00000316628:R120H	R	-	2	0	RNF152	57634318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.139000	0.58024	2.600000	0.87896	0.655000	0.94253	CGC	RNF152	-	NULL	ENSG00000176641		0.657	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF152	HGNC	protein_coding	OTTHUMT00000256180.1		0	48	0	C	NM_173557		59483338	-1			no_errors	ENST00000312828	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	59483338	C	T	59483338	3	4	151	1	0	0	0	0	1	0	0	0	13498	768	27	1	256	1	RNF152	18	59483338	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	16840192	59483338	18593910	203	38568											
DSEL	92126	genome.wustl.edu	37	chr18	65181739	65181739	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	taaactgatctatatcatctGtgaaaactgcccattcggaa	14	12	6	9	1	3	2	1	2	2	0	4	3	3	3	1	1	3	0	1	1	7	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr18:65181739G>T	ENST00000310045.7	-	2	1610	c.137C>A	c.(136-138)aCa>aAa	p.T46K	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	36					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)	p.T46I(1)		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)				TATATCATCTGTGAAAACTGC	0.333																																																	1	Substitution - Missense(1)	ovary(1)											101	96	97					18																	65181739		2203	4300	6503	SO:0001583	missense	0			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.137C>A	18.37:g.65181739G>T	ENSP00000310565:p.Thr46Lys		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.T46K	ENST00000310045.7	37	c.137	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793274	0.50102	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.24908	1.83	4.87	3.99	0.46301	.	0.217217	0.36234	U	0.002717	T	0.23410	0.0566	L	0.47716	1.5	0.31849	N	0.622468	B	0.17667	0.023	B	0.20767	0.031	T	0.18713	-1.0328	10	0.62326	D	0.03	-2.5467	9.9923	0.41879	0.1782:0.0:0.8218:0.0	.	36	Q8IZU8	DSEL_HUMAN	K	46;36	ENSP00000310565:T46K	ENSP00000310565:T46K	T	-	2	0	DSEL	63332719	1.000000	0.71417	0.609000	0.28983	0.891000	0.51852	5.403000	0.66338	1.059000	0.40554	0.561000	0.74099	ACA	DSEL	-	NULL	ENSG00000171451		0.333	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1		0	28	0	G	NM_032160		65181739	-1			no_errors	ENST00000310045	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.994	T	T	65181739	G	T	65181739	3	4	151	1	0	0	0	0	1	0	0	0	4789	1377	48	3	3535	3	DSEL	18	65181739	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	5698401	65181739	12895509	204	38569											
SBNO2	22904	genome.wustl.edu	37	chr19	1122178	1122178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccagtccaggatctgcCggaggcgagtgcggtgctgg	7	6	16	12	3	1	0	0	0	1	0	2	3	2	2	3	5	3	1	3	5	0	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:1122178C>T	ENST00000361757.3	-	11	1346	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	SBNO2_ENST00000438103.2_Missense_Mutation_p.R313Q|SBNO2_ENST00000587024.1_Missense_Mutation_p.R370Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	370					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)		CAGGATCTGCCGGAGGCGAGT	0.662																																																	0													19	23	21					19																	1122178		2142	4226	6368	SO:0001583	missense	0			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.1109G>A	19.37:g.1122178C>T	ENSP00000354733:p.Arg370Gln		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R370Q	ENST00000361757.3	37	c.1109	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266806	0.59540	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.5	2.46	0.29980	.	0.185709	0.44097	N	0.000497	T	0.37839	0.1018	N	0.20445	0.575	0.37650	D	0.92237	D;B;D;D	0.63880	0.993;0.024;0.984;0.981	P;B;P;P	0.52957	0.71;0.019;0.714;0.505	T	0.38564	-0.9655	9	0.59425	D	0.04	-22.5276	4.9885	0.14202	0.0:0.6204:0.0:0.3796	.	313;370;370;313	B4DL53;B4DV91;Q9Y2G9;Q9Y2G9-3	.;.;SBNO2_HUMAN;.	Q	370;313;394	.	ENSP00000250872:R394Q	R	-	2	0	SBNO2	1073178	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	3.045000	0.49838	0.793000	0.33875	0.561000	0.74099	CGG	SBNO2	-	superfamily_P-loop_NTPase	ENSG00000064932		0.662	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	-	0	49	0	C	NM_014963		1122178	-1	tier1	-	no_errors	ENST00000361757	ensembl	human	known	74_37	missense	71.70	15	38	SNP	1.000	T	T	1122178	C	T	1122178	3	4	151	1	0	0	0	0	1	0	0	0	13908	652	23	1	3079	1	SBNO2	19	1122178	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09		1122178	58006805	205	38570											
HDGFRP2	84717	genome.wustl.edu	37	chr19	4475476	4475476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggacctgttcccctacGacaaatgtaaagacaagtac	15	7	7	12	1	0	1	0	0	0	1	1	3	1	2	4	1	2	3	4	1	7	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:4475476G>T	ENST00000301284.4	+	3	248	c.184G>T	c.(184-186)Gac>Tac	p.D62Y	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.D62Y	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		62	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTTCCCCTACGACAAATGTAA	0.597																																																	0													63	67	65					19																	4475476		2007	4185	6192	SO:0001583	missense	0																														ENST00000301284.4:c.184G>T	19.37:g.4475476G>T	ENSP00000301284:p.Asp62Tyr		I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.D62Y	ENST00000301284.4	37	c.184	CCDS42472.1	19	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396451	0.62177	.	.	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.72505	-0.66	4.91	4.91	0.64330	PWWP (3);	0.054941	0.64402	D	0.000001	T	0.80607	0.4655	L	0.55481	1.735	0.41819	D	0.990013	D;D	0.67145	0.986;0.996	D;D	0.65773	0.938;0.934	T	0.82916	-0.0220	10	0.72032	D	0.01	.	17.4207	0.87514	0.0:0.0:1.0:0.0	.	62;62	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	Y	62;48	ENSP00000301284:D62Y	ENSP00000301284:D62Y	D	+	1	0	AC011498.1	4426476	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.612000	0.54142	2.417000	0.82017	0.561000	0.74099	GAC	HDGFRP2	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000167674		0.597	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HDGFRP2	Uniprot_gn	protein_coding	OTTHUMT00000458642.1		0	64	0	G			4475476	1			no_errors	ENST00000301284	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.997	T	T	4475476	G	T	4475476	3	4	151	1	0	0	0	0	1	0	0	0	7047	1058	37	2	194	2	HDGFRP2	19	4475476	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	3353298	4475476	54653507	206	38571											
TRIP10	9322	genome.wustl.edu	37	chr19	6743039	6743039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgactttgcaggccagCgggagctggtggctgagaac	9	8	16	8	1	0	3	0	3	0	1	0	5	0	4	1	4	4	3	1	4	2	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:6743039C>T	ENST00000313244.9	+	4	294	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000600428.1_5'UTR|TRIP10_ENST00000313285.8_Missense_Mutation_p.R87W|TRIP10_ENST00000596758.1_Missense_Mutation_p.R87W			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	87	F-BAR domain.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin. {ECO:0000250}.				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						TGCAGGCCAGCGGGAGCTGGT	0.552																																																	0													88	84	86					19																	6743039		2203	4300	6503	SO:0001583	missense	0			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.259C>T	19.37:g.6743039C>T	ENSP00000320117:p.Arg87Trp		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.R87W	ENST00000313244.9	37	c.259		19	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010137	0.75046	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.19669	2.13;2.13	4.21	3.15	0.36227	Fps/Fes/Fer/CIP4 homology (2);	0.138825	0.44688	D	0.000435	T	0.44993	0.1320	M	0.77313	2.365	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.999	T	0.46569	-0.9182	10	0.87932	D	0	-23.5468	11.2609	0.49083	0.1829:0.8171:0.0:0.0	.	87;87;87	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	W	87	ENSP00000320493:R87W;ENSP00000320117:R87W	ENSP00000320117:R87W	R	+	1	2	TRIP10	6694039	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	0.819000	0.27308	0.976000	0.38417	0.555000	0.69702	CGG	TRIP10	-	pfam_FCH_dom,smart_FCH_dom	ENSG00000125733		0.552	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2		0	26	0	C			6743039	1			no_errors	ENST00000313244	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	6743039	C	T	6743039	3	4	151	1	0	0	0	0	1	0	0	0	16602	759	27	1	273	1	TRIP10	19	6743039	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	2267563	6743039	52385944	207	38572											
EMR1	2015	genome.wustl.edu	37	chr19	6916316	6916316	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagaatgtgacgttggacTtggtagccaagggggataag	13	8	16	4	1	0	2	0	1	0	1	0	5	0	4	1	4	1	2	1	4	5	4	rs146387629		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:6916316T>G	ENST00000312053.4	+	12	1394	c.1357T>G	c.(1357-1359)Ttg>Gtg	p.L453V	EMR1_ENST00000381407.5_Missense_Mutation_p.L312V|EMR1_ENST00000450315.3_Missense_Mutation_p.L276V|EMR1_ENST00000250572.8_Missense_Mutation_p.L453V|EMR1_ENST00000381404.4_Missense_Mutation_p.L401V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	453	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GACGTTGGACTTGGTAGCCAA	0.443																																																	0								T	VAL/LEU	0,4406		0,0,2203	185	167	173		1357	-0.7	0	19	dbSNP_134	173	2,8598	2.2+/-6.3	0,2,4298	no	missense	EMR1	NM_001974.3	32	0,2,6501	GG,GT,TT		0.0233,0.0,0.0154	possibly-damaging	453/887	6916316	2,13004	2203	4300	6503	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1357T>G	19.37:g.6916316T>G	ENSP00000311545:p.Leu453Val		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.L453V	ENST00000312053.4	37	c.1357	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926019	0.34002	0.0	2.33E-4	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.79352	-1.14;-1.19;-1.26;0.01;0.36	4.67	-0.689	0.11313	.	.	.	.	.	T	0.79896	0.4525	M	0.70275	2.135	0.09310	N	1	D;D;P;P;P	0.58268	0.982;0.962;0.925;0.952;0.877	P;P;P;B;B	0.57425	0.82;0.608;0.453;0.368;0.265	T	0.66787	-0.5835	9	0.39692	T	0.17	.	3.7903	0.08718	0.1888:0.4387:0.0:0.3724	.	276;312;453;401;453	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	V	453;453;401;453;312;276	ENSP00000311545:L453V;ENSP00000370811:L401V;ENSP00000250572:L453V;ENSP00000370814:L312V;ENSP00000405974:L276V	ENSP00000250572:L453V	L	+	1	2	EMR1	6867316	0.005000	0.15991	0.038000	0.18304	0.001000	0.01503	-0.168000	0.09925	-0.229000	0.09854	-0.326000	0.08463	TTG	EMR1	-	NULL	ENSG00000174837		0.443	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	-	0	66	0	T			6916316	1	tier1	rs146387629	no_errors	ENST00000312053	ensembl	human	known	74_37	missense	51.28	19	20	SNP	0.004	G	G	6916316	T	G	6916316	3	3	151	1	0	0	0	0	1	0	0	0	5120	1606	56	4	1403	4	EMR1	19	6916316	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	173277	6916316	52212667	208	38573											
OR7G1	125962	genome.wustl.edu	37	chr19	9225668	9225668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagcagaactaatgtacaCcccaaaagctgtcccataga	17	6	6	12	0	0	2	0	0	0	2	1	2	1	2	3	0	5	3	3	0	7	3	rs546098161		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:9225668C>T	ENST00000541538.1	-	1	771	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	OR7G1_ENST00000293614.1_Missense_Mutation_p.V258M	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CTAATGTACACCCCAAAAGCT	0.458																																																	0													108	101	103					19																	9225668		2203	4300	6503	SO:0001583	missense	0				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.772G>A	19.37:g.9225668C>T	ENSP00000444134:p.Val258Met		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V258M	ENST00000541538.1	37	c.772	CCDS32898.2	19	.	.	.	.	.	.	.	.	.	.	c	13.07	2.128718	0.37533	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.00051	8.81;8.81	3.12	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34676	U	0.003765	T	0.00328	0.0010	L	0.52126	1.63	0.09310	N	1	D	0.57571	0.98	D	0.65443	0.935	T	0.57957	-0.7721	10	0.72032	D	0.01	.	14.1378	0.65297	0.0:1.0:0.0:0.0	.	258	Q8NGA0	OR7G1_HUMAN	M	258	ENSP00000293614:V258M;ENSP00000444134:V258M	ENSP00000293614:V258M	V	-	1	0	OR7G1	9086668	0.000000	0.05858	0.275000	0.24674	0.020000	0.10135	-0.569000	0.05902	2.093000	0.63338	0.501000	0.49751	GTG	OR7G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000161807		0.458	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G1	HGNC	protein_coding	OTTHUMT00000397912.1	-	0	33	0	C			9225668	-1	tier1	-	no_errors	ENST00000293614	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.001	T	T	9225668	C	T	9225668	3	4	151	1	0	0	0	0	1	0	0	0	11261	507	18	3	237	3	OR7G1	19	9225668	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	2309352	9225668	49903315	209	38574											
MAST1	1777	genome.wustl.edu	37	chr19	12985623	12985623	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccggtgccctgctgaagCtgtgcccccagcaggcctga	5	7	12	17	1	0	2	0	2	0	0	1	2	1	2	5	2	5	3	5	2	1	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:12985623C>T	ENST00000222219.3	-	0	1955				AC020934.1_ENST00000578125.1_RNA|MAST1_ENST00000251472.4_Missense_Mutation_p.A1551V	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						CCTGCTGAAGCTGTGCCCCCA	0.662																																																	0													15	13	14					19																	12985623		2196	4286	6482	SO:0001628	intergenic_variant	0			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.12985623C>T			B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.A1551V	ENST00000222219.3	37	c.4652	CCDS12284.1	19	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040028	0.35989	.	.	ENSG00000105613	ENST00000251472	T	0.69685	-0.42	5.16	1.84	0.25277	.	0.463964	0.17947	N	0.156632	T	0.40297	0.1111	N	0.08118	0	0.26905	N	0.967039	B	0.02656	0.0	B	0.01281	0.0	T	0.23119	-1.0197	10	0.45353	T	0.12	-2.3568	4.8691	0.13624	0.0:0.6323:0.1765:0.1912	.	1551	Q9Y2H9	MAST1_HUMAN	V	1551	ENSP00000251472:A1551V	ENSP00000251472:A1551V	A	+	2	0	MAST1	12846623	0.599000	0.26891	0.909000	0.35828	0.639000	0.38242	1.026000	0.30103	0.560000	0.29169	0.555000	0.69702	GCT	MAST1	-	NULL	ENSG00000105613		0.662	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451790.1	-	0	58	0	C			12985623	1	tier1	-	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.847	T	T	12985623	C	T	12985623	1	4	151	0	1	0	0	0	0	0	0	0	9362	797	28	3		3	MAST1	19	12985623	IGR	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	3759955	12985623	46143360	210	38575											
UNC13A	23025	genome.wustl.edu	37	chr19	17750295	17750295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtccacagtggatttgaGgtcctggagtctctccgggc	7	10	14	10	1	1	1	0	1	1	0	5	3	4	3	3	5	0	0	3	5	1	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:17750295G>T	ENST00000519716.2	-	24	2895	c.2896C>A	c.(2896-2898)Ctc>Atc	p.L966I	UNC13A_ENST00000428389.2_Missense_Mutation_p.L1054I|UNC13A_ENST00000550896.1_Missense_Mutation_p.L964I|UNC13A_ENST00000252773.7_Missense_Mutation_p.L966I|UNC13A_ENST00000552293.1_Missense_Mutation_p.L966I|UNC13A_ENST00000551649.1_Missense_Mutation_p.L966I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	966					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						GTGGATTTGAGGTCCTGGAGT	0.537																																																	0													79	79	79					19																	17750295		1957	4149	6106	SO:0001583	missense	0			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.2896C>A	19.37:g.17750295G>T	ENSP00000429562:p.Leu966Ile		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L1054I	ENST00000519716.2	37	c.3160	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976844	0.74360	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.89196	-2.43;-2.48;-2.4;-2.27;-2.32;-2.44	3.79	2.71	0.32032	.	0.165377	0.40818	U	0.001020	D	0.92211	0.7530	M	0.80847	2.515	0.46901	D	0.999249	D	0.61080	0.989	P	0.58013	0.831	D	0.91802	0.5452	10	0.87932	D	0	-13.7941	10.4401	0.44460	0.0:0.0:0.8029:0.1971	.	966	Q9UPW8	UN13A_HUMAN	I	966;1054;966;966;966;964	ENSP00000429562:L966I;ENSP00000400409:L1054I;ENSP00000252773:L966I;ENSP00000447236:L966I;ENSP00000447572:L966I;ENSP00000446831:L964I	ENSP00000252773:L966I	L	-	1	0	UNC13A	17611295	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.569000	0.67391	0.677000	0.31305	0.298000	0.19748	CTC	UNC13A	-	NULL	ENSG00000130477		0.537	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0	92	0	G	XM_038604		17750295	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	17750295	G	T	17750295	3	4	151	1	0	0	0	0	1	0	0	0	17033	1000	35	3	2295	3	UNC13A	19	17750295	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	4764672	17750295	41378688	211	38576											
HAPLN4	404037	genome.wustl.edu	37	chr19	19369598	19369598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtcctgctcggcgcacGcgcgctgcgcctccgcgaag	3	6	14	18	9	0	0	0	0	0	0	3	1	2	0	4	1	3	3	4	1	1	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:19369598G>A	ENST00000291481.7	-	4	614	c.551C>T	c.(550-552)gCg>gTg	p.A184V	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	184	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.A184E(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CTCGGCGCACGCGCGCTGCGC	0.711																																																	1	Substitution - Missense(1)	lung(1)											10	10	10					19																	19369598		2184	4261	6445	SO:0001583	missense	0			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.551C>T	19.37:g.19369598G>A	ENSP00000291481:p.Ala184Val		A5PKW5|Q96PW2	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.A184V	ENST00000291481.7	37	c.551	CCDS12398.1	19	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369161	0.82463	.	.	ENSG00000187664	ENST00000291481	T	0.13196	2.61	3.97	3.97	0.46021	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.070468	0.56097	D	0.000039	T	0.29355	0.0731	M	0.70842	2.15	0.42561	D	0.993142	D	0.55172	0.97	P	0.55785	0.784	T	0.06826	-1.0805	10	0.45353	T	0.12	-27.0099	14.7601	0.69600	0.0:0.0:1.0:0.0	.	184	Q86UW8	HPLN4_HUMAN	V	184	ENSP00000291481:A184V	ENSP00000291481:A184V	A	-	2	0	HAPLN4	19230598	1.000000	0.71417	0.954000	0.39281	0.535000	0.34838	3.885000	0.56182	2.055000	0.61198	0.313000	0.20887	GCG	HAPLN4	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link	ENSG00000187664		0.711	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	HGNC	protein_coding	OTTHUMT00000460117.2	-	0	46	0	G	NM_023002		19369598	-1	tier1	-	no_errors	ENST00000291481	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.996	A	A	19369598	G	A	19369598	3	1	151	1	0	0	0	0	1	0	0	0	6984	1087	38	1	665	1	HAPLN4	19	19369598	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	1619303	19369598	39759385	212	38577											
ZNF99	7652	genome.wustl.edu	37	chr19	22940886	22940886	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaattatctgatgttttcTaagggctgagaagtggttaa	12	15	11	3	0	2	3	0	3	2	1	2	4	2	3	0	2	0	3	0	2	5	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:22940886T>A	ENST00000596209.1	-	4	1915	c.1825A>T	c.(1825-1827)Aga>Tga	p.R609*	ZNF99_ENST00000397104.3_Nonsense_Mutation_p.R518*	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	609					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGATGTTTTCTAAGGGCTGAG	0.378																																																	0													37	42	40					19																	22940886		1975	4198	6173	SO:0001587	stop_gained	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1825A>T	19.37:g.22940886T>A	ENSP00000472969:p.Arg609*		M0R335	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R518*	ENST00000596209.1	37	c.1552	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	t	18.09	3.545931	0.65198	.	.	ENSG00000213973	ENST00000397104	.	.	.	1.16	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	7.2703	0.26252	0.0:0.0:0.0:1.0	.	.	.	.	X	518	.	ENSP00000380293:R518X	R	-	1	2	ZNF99	22732726	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-4.245000	0.00267	0.501000	0.28013	0.163000	0.16589	AGA	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0	57	0	T	XM_065124		22940886	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	nonsense	31.43	48	22	SNP	0.020	A	A	22940886	T	A	22940886	4	1	151	1	0	0	0	0	0	1	0	0	18252	1530	53	5	1572	5	ZNF99	19	22940886	Nonsense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	3571288	22940886	36188097	213	38578											
ZNF536	9745	genome.wustl.edu	37	chr19	31039199	31039199	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaaggcactgaccttccTtccaaaagcacccacttctc	11	9	5	16	0	1	2	0	2	1	0	4	2	3	2	4	1	1	2	4	1	3	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:31039199T>G	ENST00000355537.3	+	4	2820	c.2673T>G	c.(2671-2673)ccT>ccG	p.P891P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	891					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)					CTGACCTTCCTTCCAAAAGCA	0.527																																																	0													125	127	126					19																	31039199		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2673T>G	19.37:g.31039199T>G			A2RU18	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P891	ENST00000355537.3	37	c.2673	CCDS32984.1	19																																																																																			ZNF536	-	NULL	ENSG00000198597		0.527	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0	40	0	T	NM_014717		31039199	1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	silent	42.22	26	19	SNP	0.991	G	G	31039199	T	G	31039199	2	3	151	1	0	0	0	0	0	0	0	1	18022	1596	56	4		4	ZNF536	19	31039199	Silent	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	8098313	31039199	28089784	214	38579											
EID2B	126272	genome.wustl.edu	37	chr19	40023426	40023426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcggacatctccaacagcCcagtcggctccgccatagtc	8	7	9	17	3	1	0	0	0	1	0	6	1	2	1	4	2	2	2	4	2	2	1	rs533129244		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:40023426C>T	ENST00000326282.4	-	1	68	c.17G>A	c.(16-18)gGg>gAg	p.G6E	EID2B_ENST00000601837.1_5'UTR|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)			CTCCAACAGCCCAGTCGGCTC	0.652											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													22	25	24					19																	40023426		2134	4163	6297	SO:0001583	missense	0			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.17G>A	19.37:g.40023426C>T	ENSP00000317564:p.Gly6Glu	890		Missense_Mutation	SNP	NULL	p.G6E	ENST00000326282.4	37	c.17	CCDS12539.1	19	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365750	0.41902	.	.	ENSG00000176401	ENST00000326282	T	0.35973	1.28	2.09	-4.17	0.03857	.	.	.	.	.	T	0.19565	0.0470	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.20505	-1.0273	9	0.59425	D	0.04	.	4.7916	0.13252	0.0:0.3532:0.2336:0.4131	.	6	Q96D98	EID2B_HUMAN	E	6	ENSP00000317564:G6E	ENSP00000317564:G6E	G	-	2	0	EID2B	44715266	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.164000	0.03135	-1.003000	0.03425	-0.518000	0.04402	GGG	EID2B	-	NULL	ENSG00000176401		0.652	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EID2B	HGNC	protein_coding	OTTHUMT00000464961.1	-	0	26	0	C	NM_152361		40023426	-1	tier1	-	no_errors	ENST00000326282	ensembl	human	known	74_37	missense	44.12	19	15	SNP	0.000	T	T	40023426	C	T	40023426	3	4	151	1	0	0	0	0	1	0	0	0	5002	623	22	3	472	3	EID2B	19	40023426	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	8984227	40023426	19105557	215	38580											
FCGBP	8857	genome.wustl.edu	37	chr19	40420076	40420076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtcaggccaaagtccGtgcgcacgacggcatccctg	9	6	12	14	4	1	1	1	1	0	0	3	2	3	1	3	2	1	2	3	2	1	0	rs145294097		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:40420076G>T	ENST00000221347.6	-	6	2925	c.2918C>A	c.(2917-2919)aCg>aAg	p.T973K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	973	VWFD 2. {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)			GCCAAAGTCCGTGCGCACGAC	0.587																																																	0													66	61	62					19																	40420076		2203	4300	6503	SO:0001583	missense	0			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.2918C>A	19.37:g.40420076G>T	ENSP00000221347:p.Thr973Lys		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.T973K	ENST00000221347.6	37	c.2918	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658099	0.47467	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.84	3.78	0.43462	von Willebrand factor, type D domain (3);	0.000000	0.64402	D	0.000002	T	0.73590	0.3606	M	0.79123	2.44	0.34974	D	0.75344	D	0.76494	0.999	D	0.79784	0.993	T	0.80621	-0.1301	10	0.39692	T	0.17	.	12.5623	0.56288	0.0833:0.0:0.9167:0.0	.	973	Q9Y6R7	FCGBP_HUMAN	K	973	ENSP00000221347:T973K	ENSP00000221347:T973K	T	-	2	0	FCGBP	45111916	1.000000	0.71417	0.100000	0.21137	0.007000	0.05969	6.379000	0.73154	1.244000	0.43870	0.561000	0.74099	ACG	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0	20	0	G	NM_003890		40420076	-1			no_errors	ENST00000221347	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.985	T	T	40420076	G	T	40420076	3	4	151	1	0	0	0	0	1	0	0	0	5800	1145	40	2	13423	2	FCGBP	19	40420076	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	396650	40420076	18708907	216	38581											
SERTAD1	29950	genome.wustl.edu	37	chr19	40928746	40928746	+	Silent	SNP	G	G	A	0	0	1	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	cattccagcacgagggctcaGcgccctggccccggcggtcg	5	5	14	17	5	1	0	1	0	0	0	3	1	2	0	4	4	2	2	4	4	0	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:40928746G>A	ENST00000357949.4	-	2	866	c.708C>T	c.(706-708)cgC>cgT	p.R236R		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	236					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAGGGCTCAGCGCCCTGGCC	0.607																																																	0													26	27	27					19																	40928746		2200	4300	6500	SO:0001819	synonymous_variant	0			AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"CDK4-binding protein p34SEI", "transcriptional regulator interacting with the PHD-bromodomain 1"					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.708C>T	19.37:g.40928746G>A			Q9BUE7	Silent	SNP	pfam_SERTA,pfscan_SERTA	p.R236	ENST00000357949.4	37	c.708	CCDS12557.1	19																																																																																			SERTAD1	-	NULL	ENSG00000197019		0.607	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD1	HGNC	protein_coding	OTTHUMT00000462571.1		0	18	0	G	NM_013376		40928746	-1			no_errors	ENST00000357949	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.997	A	A	40928746	G	A	40928746	2	1	151	1	0	0	0	0	0	0	0	1	14165	958	34	3		3	SERTAD1	19	40928746	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	508670	40928746	18200237	217	38582											
VASP	7408	genome.wustl.edu	37	chr19	46029233	46029233	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaggtgaagaaggaattGcagaaagtgaaagaggaaat	20	5	15	1	0	0	6	0	2	0	4	0	9	0	8	0	3	1	1	0	3	7	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:46029233G>A	ENST00000245932.6	+	12	1433	c.1077G>A	c.(1075-1077)ttG>ttA	p.L359L		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	359	2 X 15 AA tandem repeats of L-[EQ]-[KR]- [MV]-K-[EQ]-E-[IL]-[IL]-E-[AEV]-[FV]- [KRV]-[KQ]-E.|EVH2 block C.|EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		AGAAGGAATTGCAGAAAGTGA	0.423																																																	0													169	171	170					19																	46029233		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.1077G>A	19.37:g.46029233G>A			B2RBT9|Q6PIZ1|Q93035	Silent	SNP	pirsf_Vasodilator_phosphoprotein,pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.L359	ENST00000245932.6	37	c.1077	CCDS33051.1	19																																																																																			VASP	-	pirsf_Vasodilator_phosphoprotein,pfam_VASP_tetra	ENSG00000125753		0.423	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASP	HGNC	protein_coding	OTTHUMT00000459589.1	-	0	47	0	G			46029233	1	tier1	-	no_errors	ENST00000245932	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.549	A	A	46029233	G	A	46029233	2	1	151	1	0	0	0	0	0	0	0	1	17177	1310	46	3		3	VASP	19	46029233	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	5100487	46029233	13099750	218	38583											
C20orf196	149840	genome.wustl.edu	37	chr20	5753675	5753675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattcttttccttattcttCtgatgtggatccaggtaata	8	18	6	9	0	3	1	0	1	3	0	5	2	5	2	3	2	0	1	3	2	3	8			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr20:5753675C>A	ENST00000303142.6	+	2	251	c.164C>A	c.(163-165)tCt>tAt	p.S55Y	C20orf196_ENST00000378979.4_Missense_Mutation_p.S55Y	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	55								p.S55C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						CCTTATTCTTCTGATGTGGAT	0.413																																																	1	Substitution - Missense(1)	lung(1)											130	125	127					20																	5753675		2203	4300	6503	SO:0001583	missense	0			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.164C>A	20.37:g.5753675C>A	ENSP00000305875:p.Ser55Tyr		A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	NULL	p.S55Y	ENST00000303142.6	37	c.164	CCDS13091.1	20	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485207	0.63962	.	.	ENSG00000171984	ENST00000378979;ENST00000303142;ENST00000378971;ENST00000445603;ENST00000442185;ENST00000541651	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.66	3.3	0.37823	.	0.377447	0.23321	N	0.049448	T	0.57330	0.2046	M	0.64997	1.995	0.33565	D	0.597847	D	0.53462	0.96	P	0.55303	0.773	T	0.68762	-0.5323	10	0.87932	D	0	-11.7024	5.0967	0.14737	0.0:0.6589:0.2088:0.1323	.	55	Q8IYI0	CT196_HUMAN	Y	55;55;55;55;102;102	ENSP00000368263:S55Y;ENSP00000305875:S55Y;ENSP00000399331:S55Y;ENSP00000410534:S102Y	ENSP00000305875:S55Y	S	+	2	0	C20orf196	5701675	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	1.198000	0.32223	1.485000	0.48380	0.650000	0.86243	TCT	C20orf196	-	NULL	ENSG00000171984		0.413	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf196	HGNC	protein_coding	OTTHUMT00000077882.2		0	44	0	C	NM_152504		5753675	1			no_errors	ENST00000303142	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.999	A	A	5753675	C	A	5753675	3	1	151	1	0	0	0	0	1	0	0	0	2108	913	32	3	166	3	C20orf196	20	5753675	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09		5753675	57271845	219	38584											
MCM8	84515	genome.wustl.edu	37	chr20	5933133	5933133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgcagtcaacattggatcGattcataccatataaaggct	15	11	7	8	1	2	0	2	0	0	0	3	2	2	1	1	2	3	2	1	2	6	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr20:5933133G>A	ENST00000378896.3	+	3	589	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	MCM8_ENST00000378886.2_Missense_Mutation_p.R71Q|MCM8_ENST00000378883.1_Missense_Mutation_p.R71Q|TRMT6_ENST00000453074.2_5'Flank|TRMT6_ENST00000473131.1_5'Flank|MCM8_ENST00000265187.4_Missense_Mutation_p.R71Q|TRMT6_ENST00000203001.2_5'Flank	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	71					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ACATTGGATCGATTCATACCA	0.343																																																	0													103	118	113					20																	5933133		2203	4299	6502	SO:0001583	missense	0			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.212G>A	20.37:g.5933133G>A	ENSP00000368174:p.Arg71Gln		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.R71Q	ENST00000378896.3	37	c.212	CCDS13094.1	20	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.577097	0.00887	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	6.07	-0.0901	0.13666	.	1.128040	0.06352	N	0.710087	T	0.05640	0.0148	N	0.00237	-1.79	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.34403	-0.9830	10	0.09338	T	0.73	1.0959	6.3488	0.21365	0.6287:0.1186:0.2527:0.0	.	71;71;71;71	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Q	71	ENSP00000368174:R71Q;ENSP00000368161:R71Q;ENSP00000368164:R71Q;ENSP00000265187:R71Q	ENSP00000265187:R71Q	R	+	2	0	MCM8	5881133	0.011000	0.17503	0.018000	0.16275	0.055000	0.15305	1.133000	0.31430	-0.279000	0.09167	-1.004000	0.02495	CGA	MCM8	-	NULL	ENSG00000125885		0.343	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	HGNC	protein_coding	OTTHUMT00000077900.1		0	45	0	G	NM_032485		5933133	1			no_errors	ENST00000378886	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.038	A	A	5933133	G	A	5933133	3	1	151	1	0	0	0	0	1	0	0	0	9431	1058	37	1	218	1	MCM8	20	5933133	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	179458	5933133	57092387	220	38585											
HAO1	54363	genome.wustl.edu	37	chr20	7864254	7864254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactgtcagatcttggaaaCggccaaaggatttttcctca	11	11	9	10	1	3	1	2	0	1	1	4	3	4	3	2	3	1	1	2	3	2	3	rs373454999		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr20:7864254C>T	ENST00000378789.3	-	8	1150	c.1099G>A	c.(1099-1101)Gtt>Att	p.V367I		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	367					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.V367F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCTTGGAAACGGCCAAAGGA	0.373																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						C	ILE/VAL	0,4406		0,0,2203	157	142	147		1099	3.7	1	20		147	1,8599	1.2+/-3.3	0,1,4299	no	missense	HAO1	NM_017545.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	367/371	7864254	1,13005	2203	4300	6503	SO:0001583	missense	0			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.1099G>A	20.37:g.7864254C>T	ENSP00000368066:p.Val367Ile		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.V367I	ENST00000378789.3	37	c.1099	CCDS13100.1	20	.	.	.	.	.	.	.	.	.	.	C	9.264	1.044063	0.19748	0.0	1.16E-4	ENSG00000101323	ENST00000378789	T	0.30448	1.53	5.64	3.69	0.42338	.	0.703764	0.14461	N	0.318165	T	0.12263	0.0298	N	0.02539	-0.55	0.23487	N	0.997574	B	0.11235	0.004	B	0.06405	0.002	T	0.29458	-1.0011	10	0.18710	T	0.47	-15.8898	9.8105	0.40820	0.0:0.7719:0.1539:0.0742	.	367	Q9UJM8	HAOX1_HUMAN	I	367	ENSP00000368066:V367I	ENSP00000368066:V367I	V	-	1	0	HAO1	7812254	0.739000	0.28196	0.990000	0.47175	0.996000	0.88848	0.936000	0.28938	0.708000	0.31955	0.591000	0.81541	GTT	HAO1	-	NULL	ENSG00000101323		0.373	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	HGNC	protein_coding	OTTHUMT00000077926.2		0	55	0	C			7864254	-1			no_errors	ENST00000378789	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T	T	7864254	C	T	7864254	3	4	151	1	0	0	0	0	1	0	0	0	6978	536	19	1	17	1	HAO1	20	7864254	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	1931121	7864254	55161266	221	38586											
GZF1	64412	genome.wustl.edu	37	chr20	23349538	23349538	+	Silent	SNP	A	A	T	1	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	acttttgcccagcggaattcActgtaccagcatattaaagt	12	12	7	10	1	1	0	1	0	0	0	1	1	1	1	2	1	4	2	2	1	5	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr20:23349538A>T	ENST00000338121.5	+	4	1676	c.1599A>T	c.(1597-1599)tcA>tcT	p.S533S	GZF1_ENST00000544236.1_Silent_p.S57S|GZF1_ENST00000377051.2_Silent_p.S533S|GZF1_ENST00000542987.1_Silent_p.S42S|GZF1_ENST00000461789.1_3'UTR			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	533					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AGCGGAATTCACTGTACCAGC	0.388																																																	0													117	114	115					20																	23349538		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1599A>T	20.37:g.23349538A>T			A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S533	ENST00000338121.5	37	c.1599	CCDS13151.1	20																																																																																			GZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125812		0.388	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1	-	0	89	0	A	NM_022482		23349538	1	tier1	-	no_errors	ENST00000338121	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.289	T	T	23349538	A	T	23349538	2	4	151	1	0	0	0	0	0	0	0	1	6941	146	6	5		5	GZF1	20	23349538	Silent	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	15485284	23349538	39675982	222	38587											
ERGIC3	51614	genome.wustl.edu	37	chr20	34135193	34135193	+	Missense_Mutation	SNP	A	A	G	1	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	agtcgaggtgacggtgtttgAccctgactccctggaccctg	6	10	13	12	2	0	3	0	3	0	0	2	5	1	4	3	3	0	1	3	3	0	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr20:34135193A>G	ENST00000348547.2	+	5	475	c.398A>G	c.(397-399)gAc>gGc	p.D133G	ERGIC3_ENST00000357394.4_Missense_Mutation_p.D133G|ERGIC3_ENST00000447986.1_Missense_Mutation_p.D133G|ERGIC3_ENST00000279052.6_Missense_Mutation_p.D133G	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	133					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ACGGTGTTTGACCCTGACTCC	0.592																																																	0													128	89	102					20																	34135193		2203	4300	6503	SO:0001583	missense	0			AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"serologically defined breast cancer antigen 84", "chromosome 20 open reading frame 47"	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.398A>G	20.37:g.34135193A>G	ENSP00000341358:p.Asp133Gly		Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Missense_Mutation	SNP	pfam_Erv_C	p.D133G	ENST00000348547.2	37	c.398	CCDS13257.1	20	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	16.38|16.38|16.38	3.107711|3.107711|3.107711	0.56291|0.56291|0.56291	.|.|.	.|.|.	ENSG00000125991|ENSG00000125991|ENSG00000125991	ENST00000348547;ENST00000357394;ENST00000447986;ENST00000279052|ENST00000416206|ENST00000413587	T;T;T;T|.|.	0.45276|.|.	0.9;0.9;0.91;0.9|.|.	4.4|4.4|4.4	4.4|4.4|4.4	0.53042|0.53042|0.53042	.|.|.	0.047793|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.41073|0.41073|.	0.1143|0.1143|.	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;B;B|.|.	0.18310|.|.	0.027;0.001;0.0;0.0;0.003|.|.	B;B;B;B;B|.|.	0.18871|.|.	0.023;0.002;0.0;0.001;0.006|.|.	T|T|.	0.26643|0.26643|.	-1.0097|-1.0097|.	10|5|.	0.30078|.|.	T|.|.	0.28|.|.	-25.3582|-25.3582|-25.3582	12.6412|12.6412|12.6412	0.56711|0.56711|0.56711	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	133;133;133;133;133|.|.	B4DV36;E9PFA8;Q9Y282;Q9Y282-3;Q9Y282-2|.|.	.;.;ERGI3_HUMAN;.;.|.|.	G|A|W	133|132|134	ENSP00000341358:D133G;ENSP00000349970:D133G;ENSP00000392341:D133G;ENSP00000279052:D133G|.|.	ENSP00000279052:D133G|.|.	D|T|X	+|+|+	2|1|3	0|0|0	ERGIC3|ERGIC3|ERGIC3	33598607|33598607|33598607	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.985000|0.985000|0.985000	0.73830|0.73830|0.73830	8.675000|8.675000|8.675000	0.91195|0.91195|0.91195	1.976000|1.976000|1.976000	0.57569|0.57569|0.57569	0.454000|0.454000|0.454000	0.30748|0.30748|0.30748	GAC|ACC|TGA	ERGIC3	-	NULL	ENSG00000125991		0.592	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC3	HGNC	protein_coding	OTTHUMT00000078880.2		0	36	0	A	NM_015966		34135193	1			no_errors	ENST00000447986	ensembl	human	known	74_37	missense	6.56	56	4	SNP	1.000	G	G	34135193	A	G	34135193	3	3	151	1	0	0	0	0	1	0	0	0	5241	275	10	4	416	4	ERGIC3	20	34135193	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	10785655	34135193	28890327	223	38588											
SLC12A5	57468	genome.wustl.edu	37	chr20	44681762	44681762	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	cccttcctgctgcggcaccaCaaggtgagttgtgtgcgtga	6	10	13	12	2	0	2	0	2	0	0	1	2	1	2	3	2	3	3	3	2	1	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr20:44681762C>G	ENST00000454036.2	+	19	2662	c.2613C>G	c.(2611-2613)caC>caG	p.H871Q	SLC12A5_ENST00000243964.3_Missense_Mutation_p.H848Q	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	871					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)	TGCGGCACCACAAGGTGAGTt	0.552																																																	0													177	104	129					20																	44681762		2203	4300	6503	SO:0001583	missense	0			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.2613C>G	20.37:g.44681762C>G	ENSP00000387694:p.His871Gln		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.H871Q	ENST00000454036.2	37	c.2613	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602961	0.46423	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.87029	-2.2;-2.2	4.5	2.51	0.30379	.	0.000000	0.85682	D	0.000000	D	0.89719	0.6796	M	0.92604	3.325	0.80722	D	1	P;B	0.38788	0.647;0.39	B;B	0.41571	0.36;0.279	D	0.89707	0.3909	10	0.54805	T	0.06	.	10.2506	0.43367	0.0:0.833:0.0:0.167	.	871;848	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	Q	871;848	ENSP00000387694:H871Q;ENSP00000243964:H848Q	ENSP00000243964:H848Q	H	+	3	2	SLC12A5	44115169	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.036000	0.41165	1.100000	0.41517	-0.254000	0.11334	CAC	SLC12A5	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.552	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0	40	0	C			44681762	1	tier1	-	no_errors	ENST00000454036	ensembl	human	known	74_37	missense	31.58	39	18	SNP	1.000	G	G	44681762	C	G	44681762	3	3	151	1	0	0	0	0	1	0	0	0	14431	477	17	5	2743	5	SLC12A5	20	44681762	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	10546569	44681762	18343758	224	38589											
PCP4	5121	genome.wustl.edu	37	chr21	41270431	41270431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcaaccaatggaaaaGacaagacatctggtgaaaat	17	6	11	7	0	1	3	0	1	1	2	1	4	1	4	1	4	1	1	1	4	7	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr21:41270431G>T	ENST00000328619.5	+	2	225	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	14					central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				CAATGGAAAAGACAAGACATC	0.408																																																	0													145	133	137					21																	41270431		2203	4300	6503	SO:0001583	missense	0			X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.40G>T	21.37:g.41270431G>T	ENSP00000329403:p.Asp14Tyr		A6NDJ9|Q6ICS4|Q93059	Missense_Mutation	SNP	NULL	p.D14Y	ENST00000328619.5	37	c.40	CCDS33563.1	21	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625211	0.28889	.	.	ENSG00000183036	ENST00000328619	.	.	.	4.46	4.46	0.54185	.	0.654332	0.13981	N	0.349461	T	0.40297	0.1111	.	.	.	0.33473	D	0.58646	P	0.41041	0.736	B	0.35655	0.207	T	0.59584	-0.7427	8	0.72032	D	0.01	-3.6781	13.3477	0.60584	0.0:0.0:1.0:0.0	.	14	P48539	PCP4_HUMAN	Y	14	.	ENSP00000329403:D14Y	D	+	1	0	PCP4	40192301	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.839000	0.62810	2.397000	0.81536	0.650000	0.86243	GAC	PCP4	-	NULL	ENSG00000183036		0.408	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCP4	HGNC	protein_coding	OTTHUMT00000195025.1		0	35	0	G	NM_006198		41270431	1			no_errors	ENST00000328619	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	41270431	G	T	41270431	3	4	151	1	0	0	0	0	1	0	0	0	11637	942	33	3	46	3	PCP4	21	41270431	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09		41270431	6859464	225	38590											
C2CD2	25966	genome.wustl.edu	37	chr21	43327127	43327127	+	Missense_Mutation	SNP	A	A	C	1	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	tcagcggggacgccctccccAcgtcgacgcgaggcttggtc	5	6	14	16	6	1	0	1	0	0	0	4	3	2	1	3	4	1	1	3	4	0	1			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr21:43327127A>C	ENST00000380486.3	-	10	1533	c.1292T>G	c.(1291-1293)gTg>gGg	p.V431G	C2CD2_ENST00000329623.7_Missense_Mutation_p.V276G	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	431						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CGCCCTCCCCACGTCGACGCG	0.587																																																	0													84	71	75					21																	43327127		2203	4300	6503	SO:0001583	missense	0			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1292T>G	21.37:g.43327127A>C	ENSP00000369853:p.Val431Gly		Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom	p.V431G	ENST00000380486.3	37	c.1292	CCDS42933.1	21	.	.	.	.	.	.	.	.	.	.	A	1.955	-0.440297	0.04636	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.23147	1.93;1.92	4.8	-2.65	0.06095	.	1.309560	0.04698	N	0.415389	T	0.13200	0.0320	N	0.08118	0	0.09310	N	1	B;B	0.23442	0.085;0.063	B;B	0.19666	0.016;0.026	T	0.29852	-0.9998	10	0.20046	T	0.44	-3.4458	11.0102	0.47659	0.7366:0.0:0.2634:0.0	.	276;431	Q6P6D1;Q9Y426	.;CU025_HUMAN	G	276;431	ENSP00000329302:V276G;ENSP00000369853:V431G	ENSP00000329302:V276G	V	-	2	0	C2CD2	42200196	0.000000	0.05858	0.001000	0.08648	0.318000	0.28184	-0.189000	0.09629	-0.511000	0.06514	0.533000	0.62120	GTG	C2CD2	-	NULL	ENSG00000157617		0.587	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	-	0	42	0	A	NM_015500		43327127	-1	tier1	-	no_errors	ENST00000380486	ensembl	human	known	74_37	missense	51.85	13	14	SNP	0.000	C	C	43327127	A	C	43327127	3	2	151	1	0	0	0	0	1	0	0	0	2159	159	6	4	818	4	C2CD2	21	43327127	Missense_Mutation	SNP	A	TCGA-R6-A8WG-01A-11D-A37C-09	2056696	43327127	4802768	226	38591											
PWP2	5822	genome.wustl.edu	37	chr21	45537717	45537717	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtacttcttcaataaaGaaggggattttaacaacctg	14	12	8	7	0	3	1	2	0	1	1	3	2	3	2	1	3	3	1	1	3	7	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr21:45537717G>T	ENST00000291576.7	+	8	980	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	285					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)		CTTCAATAAAGAAGGGGATTT	0.502																																																	0													143	137	139					21																	45537717		2203	4300	6503	SO:0001587	stop_gained	0				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.853G>T	21.37:g.45537717G>T	ENSP00000291576:p.Glu285*		B2RAG8|Q96A77	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E285*	ENST00000291576.7	37	c.853	CCDS33579.1	21	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527541	0.64860	.	.	ENSG00000241945	ENST00000291576	.	.	.	4.53	4.53	0.55603	.	0.219310	0.46758	D	0.000271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-11.1827	18.1275	0.89590	0.0:0.0:1.0:0.0	.	.	.	.	X	285	.	ENSP00000291576:E285X	E	+	1	0	PWP2	44362145	1.000000	0.71417	0.998000	0.56505	0.026000	0.11368	9.390000	0.97246	2.448000	0.82819	0.561000	0.74099	GAA	PWP2	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000241945		0.502	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3		0	52	0	G	NM_005049		45537717	1			no_errors	ENST00000291576	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	1.000	T	T	45537717	G	T	45537717	4	4	151	1	0	0	0	0	0	1	0	0	12889	943	33	3	883	3	PWP2	21	45537717	Nonsense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	2210590	45537717	2592178	227	38592											
KRTAP10-11	386678	genome.wustl.edu	37	chr21	46066736	46066736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgcctgtctgctgtGgggctgcttcttcgtgctgc	0	15	15	11	1	2	0	0	0	2	0	3	0	2	0	1	2	5	5	1	2	0	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr21:46066736G>T	ENST00000334670.8	+	1	406	c.361G>T	c.(361-363)Ggg>Tgg	p.G121W	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	121	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						tgtctgctgtggggctgcttc	0.652																																																	0													119	126	124					21																	46066736		2203	4300	6503	SO:0001583	missense	0			AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.361G>T	21.37:g.46066736G>T	ENSP00000334197:p.Gly121Trp		A2RRF9	Missense_Mutation	SNP	NULL	p.G121W	ENST00000334670.8	37	c.361	CCDS42962.1	21	.	.	.	.	.	.	.	.	.	.	g	2.052	-0.417535	0.04766	.	.	ENSG00000243489	ENST00000334670	T	0.00655	5.95	3.05	-0.02	0.13958	.	.	.	.	.	T	0.01765	0.0056	L	0.46157	1.445	0.09310	N	1	P	0.49862	0.929	P	0.57283	0.817	T	0.49753	-0.8906	9	0.66056	D	0.02	.	6.6465	0.22939	0.3655:0.0:0.6345:0.0	.	121	P60412	KR10B_HUMAN	W	121	ENSP00000334197:G121W	ENSP00000334197:G121W	G	+	1	0	KRTAP10-11	44891164	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.348000	0.02629	0.011000	0.14865	0.456000	0.33151	GGG	KRTAP10-11	-	NULL	ENSG00000243489		0.652	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-11	HGNC	protein_coding	OTTHUMT00000128029.1	-	0	118	0	G	NM_198692		46066736	1	tier1	-	no_errors	ENST00000334670	ensembl	human	known	74_37	missense	6.25	120	8	SNP	0.004	T	T	46066736	G	T	46066736	3	4	151	1	0	0	0	0	1	0	0	0	8534	1348	47	3	363	3	KRTAP10-11	21	46066736	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	529019	46066736	2063159	228	38593											
PI4KA	5297	genome.wustl.edu	37	chr22	21064216	21064216	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaagagcttgattgtctgGccgcgaaaacagggcaggcc	10	8	13	10	2	2	2	1	1	1	1	2	3	2	2	2	3	2	2	2	3	3	3			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr22:21064216G>T	ENST00000572273.1	-	53	6209	c.5979C>A	c.(5977-5979)ggC>ggA	p.G1993G	PI4KA_ENST00000255882.6_Silent_p.G2051G|PI4KA_ENST00000414196.3_Silent_p.G803G			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1993	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGATTGTCTGGCCGCGAAAAC	0.582																																					GBM(136;1332 1831 3115 23601 50806)												0													89	72	78					22																	21064216		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5979C>A	22.37:g.21064216G>T			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.G2051	ENST00000572273.1	37	c.6153		22																																																																																			PI4KA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000241973		0.582	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding			0	59	0	G	NM_058004		21064216	-1			no_errors	ENST00000255882	ensembl	human	known	74_37	silent	6.58	71	5	SNP	0.990	T	T	21064216	G	T	21064216	2	4	151	1	0	0	0	0	0	0	0	1	11912	1190	42	3		3	PI4KA	22	21064216	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09		21064216	30240350	229	38594											
EFCAB6	64800	genome.wustl.edu	37	chr22	44031041	44031041	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccttctcgaagcctattttaGtggtcagcagggcatactga	9	12	10	10	1	2	1	1	1	1	0	3	2	2	1	2	2	3	2	2	2	4	5			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr22:44031041G>T	ENST00000262726.7	-	18	2292	c.2039C>A	c.(2038-2040)aCt>aAt	p.T680N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.T528N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	680			T -> A (in dbSNP:rs137731). {ECO:0000269|PubMed:14702039}.		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)				GCCTATTTTAGTGGTCAGCAG	0.542																																																	0													249	186	207					22																	44031041		2203	4300	6503	SO:0001583	missense	0			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.2039C>A	22.37:g.44031041G>T	ENSP00000262726:p.Thr680Asn		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.T680N	ENST00000262726.7	37	c.2039	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	0.509	-0.867187	0.02590	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.54279	0.58;0.58	5.13	0.324	0.15898	EF-hand-like domain (1);	1.062760	0.07375	N	0.886417	T	0.28665	0.0710	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.15484	0.013	T	0.21143	-1.0254	10	0.15499	T	0.54	-2.5597	7.3354	0.26607	0.0:0.2625:0.3496:0.3879	.	680	Q5THR3	EFCB6_HUMAN	N	528;680	ENSP00000379533:T528N;ENSP00000262726:T680N	ENSP00000262726:T680N	T	-	2	0	EFCAB6	42362374	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	0.482000	0.22276	0.321000	0.23259	-0.305000	0.09177	ACT	EFCAB6	-	NULL	ENSG00000186976		0.542	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	-	0	56	0	G	NM_022785		44031041	-1	tier1	-	no_errors	ENST00000262726	ensembl	human	known	74_37	missense	16.42	56	11	SNP	0.000	T	T	44031041	G	T	44031041	3	4	151	1	0	0	0	0	1	0	0	0	4953	1029	36	3	2526	3	EFCAB6	22	44031041	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	22966825	44031041	7273525	230	38595											
EFCAB6	64800	genome.wustl.edu	37	chr22	44112835	44112835	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggaatttttggcttgttGattctccaacgagacctctg	7	17	9	8	1	2	2	0	1	2	1	3	4	2	3	2	2	1	2	2	2	2	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr22:44112835G>A	ENST00000262726.7	-	9	1028	c.775C>T	c.(775-777)Caa>Taa	p.Q259*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.Q107*|EFCAB6_ENST00000356087.4_Nonsense_Mutation_p.Q153*|EFCAB6_ENST00000358439.4_Nonsense_Mutation_p.Q153*	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	259					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)				TTGGCTTGTTGATTCTCCAAC	0.343																																																	0													102	92	96					22																	44112835		2202	4300	6502	SO:0001587	stop_gained	0			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.775C>T	22.37:g.44112835G>A	ENSP00000262726:p.Gln259*		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Nonsense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.Q259*	ENST00000262726.7	37	c.775	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201875	0.79127	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	.	.	.	3.9	3.9	0.45041	.	0.267808	0.28555	N	0.014930	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-6.1267	11.6975	0.51553	0.0:0.0:1.0:0.0	.	.	.	.	X	107;259;153;153	.	ENSP00000262726:Q259X	Q	-	1	0	EFCAB6	42444168	0.007000	0.16637	0.038000	0.18304	0.059000	0.15707	1.633000	0.37113	2.470000	0.83445	0.591000	0.81541	CAA	EFCAB6	-	NULL	ENSG00000186976		0.343	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	-	0	95	0	G	NM_022785		44112835	-1	tier1	-	no_errors	ENST00000262726	ensembl	human	known	74_37	nonsense	21.43	66	18	SNP	0.047	A	A	44112835	G	A	44112835	4	1	151	1	0	0	0	0	0	1	0	0	4953	1299	45	3	3826	3	EFCAB6	22	44112835	Nonsense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	81794	44112835	7191731	231	38596											
PLXNB2	23654	genome.wustl.edu	37	chr22	50716897	50716897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcctgctggctgtcctccgGctgctgggagacccccacct	3	9	12	17	1	0	1	0	0	0	1	3	2	3	1	6	3	2	4	6	3	0	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr22:50716897G>T	ENST00000449103.1	-	30	4839	c.4699C>A	c.(4699-4701)Ccg>Acg	p.P1567T	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1567T			O15031	PLXB2_HUMAN	plexin B2	1567					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)		CTGTCCTCCGGCTGCTGGGAG	0.682																																																	0													18	25	22					22																	50716897		2158	4240	6398	SO:0001583	missense	0				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.4699C>A	22.37:g.50716897G>T	ENSP00000409171:p.Pro1567Thr		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.P1567T	ENST00000449103.1	37	c.4699	CCDS43035.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.31|12.31	1.899432|1.899432	0.33535|0.33535	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000399991;ENST00000399964|ENST00000449103;ENST00000359337;ENST00000411680	.|T;T;T	.|0.11277	.|2.79;2.79;2.79	4.69|4.69	4.69|4.69	0.59074|0.59074	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	.|0.084010	.|0.51477	.|D	.|0.000090	T|T	0.07863|0.07863	0.0197|0.0197	N|N	0.10916|0.10916	0.065|0.065	0.37803|0.37803	D|D	0.927778|0.927778	.|P	.|0.42010	.|0.768	.|B	.|0.41988	.|0.372	T|T	0.46303|0.46303	-0.9201|-0.9201	6|10	0.72032|0.17832	D|T	0.01|0.49	.|.	17.9896|17.9896	0.89164|0.89164	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1567	.|O15031	.|PLXB2_HUMAN	D|T	38;198|1567;1567;119	.|ENSP00000409171:P1567T;ENSP00000352288:P1567T;ENSP00000400679:P119T	ENSP00000382845:A198D|ENSP00000352288:P1567T	A|P	-|-	2|1	0|0	PLXNB2|PLXNB2	49059024|49059024	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.981000|0.981000	0.71138|0.71138	3.122000|3.122000	0.50446|0.50446	2.326000|2.326000	0.78906|0.78906	0.561000|0.561000	0.74099|0.74099	GCC|CCG	PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	-	0	52	0	G	NM_012401		50716897	-1	tier1	-	no_errors	ENST00000359337	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.992	T	T	50716897	G	T	50716897	3	4	151	1	0	0	0	0	1	0	0	0	12163	1203	42	3	849	3	PLXNB2	22	50716897	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	6604062	50716897	587669	232	38597											
ARSF	416	genome.wustl.edu	37	chrX	3021930	3021930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggatattttaccaactgtCgcatcagtgtcaggaggaag	12	11	11	7	1	2	0	2	0	0	0	3	3	2	3	1	3	2	1	1	3	4	3	rs201866054		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:3021930C>T	ENST00000381127.1	+	9	1451	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	ARSF_ENST00000537104.1_Silent_p.V410V|ARSF_ENST00000359361.2_Silent_p.V410V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	410					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)				TACCAACTGTCGCATCAGTGT	0.453																																																	0													96	89	91					X																	3021930		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1230C>T	X.37:g.3021930C>T			Q8TCC5	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.V410	ENST00000381127.1	37	c.1230	CCDS14123.1	X																																																																																			ARSF	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000062096		0.453	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	HGNC	protein_coding	OTTHUMT00000055652.1	-	0	35	0	C			3021930	1	tier1	rs201866054	no_errors	ENST00000359361	ensembl	human	known	74_37	silent	76.32	9	29	SNP	0.000	T	T	3021930	C	T	3021930	2	4	151	1	0	0	0	0	0	0	0	1	992	871	31	1		1	ARSF	23	3021930	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09		3021930	152248630	233	38598											
ACE2	59272	genome.wustl.edu	37	chrX	15603632	15603632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcagtaacatctatgtttGgtttctgtccaaagggaact	11	14	8	8	0	3	0	1	0	2	0	4	1	4	1	1	2	2	3	1	2	4	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:15603632G>T	ENST00000252519.3	-	7	968	c.866C>A	c.(865-867)cCa>cAa	p.P289Q	ACE2_ENST00000427411.1_Missense_Mutation_p.P289Q			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	289					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	ATCTATGTTTGGTTTCTGTCC	0.333																																																	0													138	134	136					X																	15603632		2203	4298	6501	SO:0001583	missense	0			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.866C>A	X.37:g.15603632G>T	ENSP00000252519:p.Pro289Gln		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.P289Q	ENST00000252519.3	37	c.866	CCDS14169.1	X	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047073	0.55110	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.37752	1.18;1.18	5.64	5.64	0.86602	.	0.112355	0.64402	N	0.000009	T	0.51398	0.1672	M	0.80422	2.495	0.39515	D	0.968427	D	0.54601	0.967	P	0.50754	0.649	T	0.59467	-0.7449	10	0.52906	T	0.07	-16.7664	13.6559	0.62338	0.0:0.0:0.8455:0.1545	.	289	Q9BYF1	ACE2_HUMAN	Q	289	ENSP00000252519:P289Q;ENSP00000389326:P289Q	ENSP00000252519:P289Q	P	-	2	0	ACE2	15513553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.273000	0.72581	2.364000	0.80123	0.594000	0.82650	CCA	ACE2	-	pfam_Peptidase_M2	ENSG00000130234		0.333	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE2	HGNC	protein_coding	OTTHUMT00000055867.1	-	0	64	0	G			15603632	-1	tier1	-	no_errors	ENST00000252519	ensembl	human	known	74_37	missense	6.45	57	4	SNP	1.000	T	T	15603632	G	T	15603632	3	4	151	1	0	0	0	0	1	0	0	0	137	1348	47	3	1599	3	ACE2	23	15603632	Missense_Mutation	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	12581702	15603632	139666928	234	38599											
KLHL15	80311	genome.wustl.edu	37	chrX	24024586	24024586	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaccggtagctgttagaccTtttaaatgaattttgtcctg	11	15	8	7	1	0	2	0	1	0	1	1	2	1	2	3	1	2	3	3	1	6	6			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:24024586T>C	ENST00000328046.8	-	3	480	c.225A>G	c.(223-225)aaA>aaG	p.K75K		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	75	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CTGTTAGACCTTTTAAATGAA	0.428																																																	0													105	96	99					X																	24024586		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.225A>G	X.37:g.24024586T>C			Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.K75	ENST00000328046.8	37	c.225	CCDS35217.1	X																																																																																			KLHL15	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000174010		0.428	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1		0	28	0	T	XM_040383		24024586	-1			no_errors	ENST00000328046	ensembl	human	known	74_37	silent	8.82	31	3	SNP	1.000	C	C	24024586	T	C	24024586	2	2	151	1	0	0	0	0	0	0	0	1	8398	1606	56	4		4	KLHL15	23	24024586	Silent	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	8420954	24024586	131245974	235	38600											
SYP	6855	genome.wustl.edu	37	chrX	49050791	49050791	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgccccctcggcaggtGggtgcatcaaagtacacttg	7	9	14	11	1	1	0	1	0	0	0	2	0	1	0	2	4	3	3	2	4	2	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:49050791G>A	ENST00000263233.4	-	4	327	c.255C>T	c.(253-255)ccC>ccT	p.P85P	SYP_ENST00000479808.1_Silent_p.P85P|SYP_ENST00000538567.1_5'UTR	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	85	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				CTCGGCAGGTGGGTGCATCAA	0.587																																																	0													58	47	50					X																	49050791		2203	4300	6503	SO:0001819	synonymous_variant	0			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.255C>T	X.37:g.49050791G>A			B2R7L6|B7Z359|Q6P2F7	Silent	SNP	pfam_Marvel,prints_Synaptophysin/porin	p.P85	ENST00000263233.4	37	c.255	CCDS14321.1	X																																																																																			SYP	-	pfam_Marvel	ENSG00000102003		0.587	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYP	HGNC	protein_coding	OTTHUMT00000083625.2	-	0	10	0	G	NM_003179		49050791	-1	tier1	-	no_errors	ENST00000263233	ensembl	human	known	74_37	silent	76.47	4	13	SNP	0.972	A	A	49050791	G	A	49050791	2	1	151	1	0	0	0	0	0	0	0	1	15508	1335	47	3		3	SYP	23	49050791	Silent	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	25026205	49050791	106219769	236	38601											
DRP2	1821	genome.wustl.edu	37	chrX	100503183	100503183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtcattcactgcctgactgCcttatatgaacgtttggagg	8	13	11	9	1	2	2	2	2	0	0	2	3	2	3	2	3	3	1	2	3	3	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:100503183C>A	ENST00000395209.3	+	13	1885	c.1358C>A	c.(1357-1359)gCc>gAc	p.A453D	DRP2_ENST00000538510.1_Missense_Mutation_p.A453D|DRP2_ENST00000402866.1_Missense_Mutation_p.A453D|DRP2_ENST00000541709.1_Missense_Mutation_p.A375D	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	453					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGCCTGACTGCCTTATATGAA	0.483																																																	0													257	210	226					X																	100503183		2203	4300	6503	SO:0001583	missense	0			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1358C>A	X.37:g.100503183C>A	ENSP00000378635:p.Ala453Asp		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.A453D	ENST00000395209.3	37	c.1358	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643266	0.67244	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.28	5.28	0.74379	EF-hand domain, type 1 (1);	0.170502	0.52532	D	0.000072	T	0.58395	0.2119	L	0.32530	0.975	0.50313	D	0.999867	P	0.37101	0.582	B	0.40444	0.329	T	0.63242	-0.6681	10	0.66056	D	0.02	-10.3851	18.0619	0.89380	0.0:1.0:0.0:0.0	.	453	Q13474	DRP2_HUMAN	D	453;453;375;453	ENSP00000385038:A453D;ENSP00000378635:A453D;ENSP00000444752:A375D;ENSP00000441051:A453D	ENSP00000378635:A453D	A	+	2	0	DRP2	100389839	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	4.851000	0.62896	2.200000	0.70718	0.513000	0.50165	GCC	DRP2	-	pfam_EF-hand_dom_typ1,pirsf_Dystrophin-related_2	ENSG00000102385		0.483	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	-	0	28	0	C	NM_001939		100503183	1	tier1	-	no_errors	ENST00000395209	ensembl	human	known	74_37	missense	93.33	3	42	SNP	1.000	A	A	100503183	C	A	100503183	3	1	151	1	0	0	0	0	1	0	0	0	4778	739	26	3	1400	3	DRP2	23	100503183	Missense_Mutation	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	51452392	100503183	54767377	237	38602											
COL4A5	1287	genome.wustl.edu	37	chrX	107923920	107923920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttattcagggtaatcctggCcggccgggtctcaatggaat	8	12	12	9	2	2	0	2	0	1	0	4	1	3	1	3	5	0	1	3	5	4	4			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:107923920C>T	ENST00000361603.2	+	43	4180	c.3936C>T	c.(3934-3936)ggC>ggT	p.G1312G	COL4A5_ENST00000328300.6_Silent_p.G1318G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1312	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTAATCCTGGCCGGCCGGGTC	0.413									Alport syndrome with Diffuse Leiomyomatosis																																								0													86	79	81					X																	107923920		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3936C>T	X.37:g.107923920C>T			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1318	ENST00000361603.2	37	c.3954	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen	ENSG00000188153		0.413	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2		0	22	0	C			107923920	1			no_errors	ENST00000328300	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.511	T	T	107923920	C	T	107923920	2	4	151	1	0	0	0	0	0	0	0	1	3701	726	26	3		3	COL4A5	23	107923920	Silent	SNP	C	TCGA-R6-A8WG-01A-11D-A37C-09	7420737	107923920	47346640	238	38603											
MAGEC3	139081	genome.wustl.edu	37	chrX	140984507	140984507	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaacccgagtgtgacagaGgacttggtagatgcacagga	13	6	14	8	1	0	4	0	1	0	3	0	7	0	6	1	3	2	2	1	3	2	2			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:140984507G>T	ENST00000298296.1	+	7	1123				MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E23D|MAGEC3_ENST00000544766.1_Missense_Mutation_p.E23D|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E23D	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGACAGAGGACTTGGTAG	0.517																																																	0													150	122	132					X																	140984507		2203	4300	6503	SO:0001627	intron_variant	0			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.1124-161G>T	X.37:g.140984507G>T			Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E23D	ENST00000298296.1	37	c.69	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	g	9.079	0.998830	0.19121	.	.	ENSG00000165509	ENST00000536088;ENST00000544766;ENST00000409007	T;T;T	0.03607	3.87;3.87;3.87	1.18	-0.587	0.11690	.	.	.	.	.	T	0.02494	0.0076	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45483	-0.9258	8	0.34782	T	0.22	.	4.1055	0.10035	0.0:0.0:0.4603:0.5397	.	23	Q3SYA7	.	D	23	ENSP00000441107:E23D;ENSP00000440444:E23D;ENSP00000386566:E23D	ENSP00000386566:E23D	E	+	3	2	MAGEC3	140812173	0.003000	0.15002	0.001000	0.08648	0.156000	0.22039	-0.490000	0.06482	-0.210000	0.10140	0.179000	0.17066	GAG	MAGEC3	-	NULL	ENSG00000165509		0.517	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0	19	0	G	NM_138702		140984507	1	tier1	-	no_errors	ENST00000536088	ensembl	human	known	74_37	missense	92.31	3	36	SNP	0.001	T	T	140984507	G	T	140984507	1	4	151	0	1	0	0	0	0	0	0	0	9220	991	35	3		3	MAGEC3	23	140984507	Intron	SNP	G	TCGA-R6-A8WG-01A-11D-A37C-09	33060587	140984507	14286053	239	38604											
DUSP9	1852	genome.wustl.edu	37	chrX	152914771	152914771	+	Missense_Mutation	SNP	T	T	G	0	1	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	cggctccagcatggcgccggTgcccggtccagtgcccgtgg	3	6	16	16	5	0	0	0	0	0	0	2	0	2	0	5	5	3	2	5	5	0	0			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:152914771T>G	ENST00000342782.3	+	3	723	c.458T>G	c.(457-459)gTg>gGg	p.V153G	DUSP9_ENST00000370167.4_Missense_Mutation_p.V153G			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	153					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)					ATGGCGCCGGTGCCCGGTCCA	0.682																																																	0													24	25	25					X																	152914771		2202	4290	6492	SO:0001583	missense	0			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.458T>G	X.37:g.152914771T>G	ENSP00000345853:p.Val153Gly		D3DWU5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.V153G	ENST00000342782.3	37	c.458	CCDS14724.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	0.154|0.154	-1.088616|-1.088616	0.01873|0.01873	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000433144|ENST00000370167;ENST00000342782	.|T;T	.|0.48522	.|0.81;0.81	4.96|4.96	0.927|0.927	0.19437|0.19437	.|.	.|3.072370	.|0.00969	.|N	.|0.003208	T|T	0.32496|0.32496	0.0831|0.0831	N|N	0.19112|0.19112	0.55|0.55	0.23036|0.23036	N|N	0.998394|0.998394	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.10567|0.10567	-1.0624|-1.0624	5|10	.|0.17369	.|T	.|0.5	.|.	6.1887|6.1887	0.20512|0.20512	0.0:0.0853:0.3021:0.6127|0.0:0.0853:0.3021:0.6127	.|.	.|153	.|Q99956	.|DUS9_HUMAN	G|G	124|153	.|ENSP00000359186:V153G;ENSP00000345853:V153G	.|ENSP00000345853:V153G	C|V	+|+	1|2	0|0	DUSP9|DUSP9	152567965|152567965	0.014000|0.014000	0.17966|0.17966	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	0.244000|0.244000	0.18124|0.18124	-0.170000|-0.170000	0.10816|0.10816	0.430000|0.430000	0.28490|0.28490	TGC|GTG	DUSP9	-	pirsf_MKP	ENSG00000130829		0.682	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUSP9	HGNC	protein_coding	OTTHUMT00000061022.3	-	0	17	0	T	NM_001395		152914771	1	tier1	-	no_errors	ENST00000342782	ensembl	human	known	74_37	missense	82.35	5	28	SNP	0.055	G	G	152914771	T	G	152914771	3	3	151	1	0	0	0	0	1	0	0	0	4846	1696	59	4	464	4	DUSP9	23	152914771	Missense_Mutation	SNP	T	TCGA-R6-A8WG-01A-11D-A37C-09	11930264	152914771	2355789	240	38605											
PER3	8863	genome.wustl.edu	37	chr1	7896001	7896001	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgacataccaggtacctGagaggtaagaaagcacttta	15	9	9	8	0	1	3	1	2	0	2	1	4	1	3	2	2	3	3	2	2	5	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:7896001G>T	ENST00000361923.2	+	19	3542	c.3367G>T	c.(3367-3369)Gag>Tag	p.E1123*	PER3_ENST00000377532.3_Nonsense_Mutation_p.E1132*	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1123	CRY 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)		CCAGGTACCTGAGAGGTAAGA	0.413																																																	0													54	52	52					1																	7896001		2203	4300	6503	SO:0001587	stop_gained	0			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.3367G>T	1.37:g.7896001G>T	ENSP00000355031:p.Glu1123*		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Nonsense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.E1123*	ENST00000361923.2	37	c.3367	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.440732	0.99405	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	.	.	.	3.98	3.98	0.46160	.	0.567345	0.18267	N	0.146423	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	9.5418	0.39257	0.1031:0.0:0.8969:0.0	.	.	.	.	X	1132;1123;316	.	ENSP00000355031:E1123X	E	+	1	0	PER3	7818588	0.265000	0.24102	0.899000	0.35326	0.991000	0.79684	0.807000	0.27140	2.052000	0.61016	0.557000	0.71058	GAG	PER3	-	pfam_Period_circadian-like_C	ENSG00000049246		0.413	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	-	0	74	0	G	NM_016831		7896001	1	tier1	-	no_errors	ENST00000361923	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	0.890	T	T	7896001	G	T	7896001	4	4	152	1	0	0	0	0	0	1	0	0	11770	1291	45	3	3441	3	PER3	1	7896001	Nonsense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09		7896001	241354620	1	38606											
FBXO6	26270	genome.wustl.edu	37	chr1	11732055	11732055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctactagacacattcCggccggacatcgtggttaag	11	8	12	10	3	0	1	0	0	0	1	2	3	1	3	2	4	2	2	2	4	3	4	rs572904941		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:11732055C>T	ENST00000376753.4	+	4	619	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	162	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	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;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGACACATTCCGGCCGGACAT	0.577													C|||	1	0.000199681	0	0.0014	5008	,	,		20555	0		0	False		,,,				2504	0				NSCLC(54;506 1562 46490 51389)												0													208	140	163					1																	11732055		2203	4300	6503	SO:0001583	missense	0			AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"F-boxes /  "other""	13585	protein-coding gene	gene with protein product		605647	"F-box only protein 6"			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.484C>T	1.37:g.11732055C>T	ENSP00000365944:p.Arg162Trp		B1AK42|B2RC88|Q9UKT3	Missense_Mutation	SNP	pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom	p.R162W	ENST00000376753.4	37	c.484	CCDS133.1	1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423646	0.43020	.	.	ENSG00000116663	ENST00000376753	T	0.33654	1.4	4.84	1.64	0.23874	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.056910	0.64402	D	0.000001	T	0.59838	0.2223	M	0.84433	2.695	0.33770	D	0.622918	D	0.89917	1.0	D	0.74348	0.983	T	0.73956	-0.3819	10	0.87932	D	0	.	11.7177	0.51663	0.4499:0.5501:0.0:0.0	.	162	Q9NRD1	FBX6_HUMAN	W	162	ENSP00000365944:R162W	ENSP00000365944:R162W	R	+	1	2	FBXO6	11654642	0.662000	0.27439	0.639000	0.29394	0.136000	0.21042	1.037000	0.30241	0.712000	0.32039	-0.268000	0.10319	CGG	FBXO6	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000116663		0.577	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO6	HGNC	protein_coding	OTTHUMT00000006332.1	-	0	103	0	C	NM_018438		11732055	1	tier1	-	no_errors	ENST00000376753	ensembl	human	known	74_37	missense	5.69	116	7	SNP	0.618	T	T	11732055	C	T	11732055	3	4	152	1	0	0	0	0	1	0	0	0	5781	643	23	1	494	1	FBXO6	1	11732055	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	3836054	11732055	237518566	2	38607											
ARID1A	8289	genome.wustl.edu	37	chr1	27089531	27089532	+	Frame_Shift_Ins	INS	-	-	G																															accccagtgcaggcatggctINSggaggcataaaccccatggg																										TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:27089531_27089532insG	ENST00000324856.7	+	8	2858_2859	c.2487_2488insG	c.(2488-2490)ggafs	p.G830fs	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G830fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G447fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	830					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)		CAGGCATGGCTGGAGGCATAAA	0.579			"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																																										SO:0001589	frameshift_variant	0			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.2489dupG	1.37:g.27089533_27089533dupG	ENSP00000320485:p.Gly830fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G830fs	ENST00000324856.7	37	c.2487_2488	CCDS285.1	1																																																																																			ARID1A	-	NULL	ENSG00000117713		0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2		0	36	0	-	NM_139135		27089532	1	tier1		no_errors	ENST00000324856	ensembl	human	known	74_37	frame_shift_ins	45.95	20	17	INS	0.982:1.000	G	G	27089532	-	G	27089531	7	5	152	1	0	1	1	0	0	0	0	0	913	1567	55	0	2517	0	ARID1A	1	27089531	Frame_Shift_Ins	INS	-	TCGA-RE-A7BO-01A-11D-A33E-09	15357476	27089531	222161090	3	38608											
MKNK1	8569	genome.wustl.edu	37	chr1	47027176	47027176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacccatgggtgctgcagaaCttgggcggcgctaagtctct	7	9	13	12	2	1	1	0	0	1	1	2	1	1	1	1	3	3	3	1	3	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:47027176C>T	ENST00000371946.4	-	12	1265	c.1102G>A	c.(1102-1104)Gtt>Att	p.V368I	MKNK1_ENST00000371944.4_Missense_Mutation_p.V232I|MKNK1_ENST00000428112.2_Missense_Mutation_p.V327I|MKNK1_ENST00000371945.4_Missense_Mutation_p.V327I|MKNK1_ENST00000341183.5_Missense_Mutation_p.V327I|MKNK1-AS1_ENST00000602433.1_RNA	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	368	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TGCTGCAGAACTTGGGCGGCG	0.577																																																	0													89	78	82					1																	47027176		2203	4300	6503	SO:0001583	missense	0			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.1102G>A	1.37:g.47027176C>T	ENSP00000361014:p.Val368Ile		D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V368I	ENST00000371946.4	37	c.1102	CCDS538.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.111912	0.94339	.	.	ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000371944;ENST00000341183;ENST00000428112	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	5.05	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	N	0.25144	0.715	0.80722	D	1	P;D;D;D;D	0.76494	0.924;0.972;0.98;0.997;0.999	P;P;P;D;D	0.76071	0.889;0.874;0.789;0.956;0.987	T	0.05869	-1.0859	10	0.44086	T	0.13	-30.386	17.5671	0.87923	0.0:1.0:0.0:0.0	.	232;232;327;327;368	B4DQK5;Q7Z319;Q9BUB5-3;Q9BUB5-2;Q9BUB5	.;.;.;.;MKNK1_HUMAN	I	368;327;232;327;327	ENSP00000361014:V368I;ENSP00000361013:V327I;ENSP00000361012:V232I;ENSP00000339573:V327I;ENSP00000411135:V327I	ENSP00000339573:V327I	V	-	1	0	MKNK1	46799763	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.651000	0.83577	2.638000	0.89438	0.561000	0.74099	GTT	MKNK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000079277		0.577	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	HGNC	protein_coding	OTTHUMT00000021897.2	-	0	51	0	C	NM_003684		47027176	-1	tier1	-	no_errors	ENST00000371946	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	T	T	47027176	C	T	47027176	3	4	152	1	0	0	0	0	1	0	0	0	9642	565	20	3	307	3	MKNK1	1	47027176	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	19937645	47027176	202223445	4	38609											
L1TD1	54596	genome.wustl.edu	37	chr1	62676526	62676526	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaggcaaagagatataGaggagagatctagaagttgc	19	6	13	3	0	1	5	0	0	1	5	1	8	1	6	0	2	1	2	0	2	7	4	rs546879656		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:62676526G>T	ENST00000498273.1	+	4	2375	c.2080G>T	c.(2080-2082)Gag>Tag	p.E694*	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	694										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						aagagatatagaggagagatc	0.328																																																	0													27	27	27					1																	62676526		1669	3022	4691	SO:0001587	stop_gained	0			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.2080G>T	1.37:g.62676526G>T	ENSP00000419901:p.Glu694*		Q8NDA1|Q9NUV8|Q9NV78	Nonsense_Mutation	SNP	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.E694*	ENST00000498273.1	37	c.2080	CCDS619.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.898081	0.97920	.	.	ENSG00000240563	ENST00000498273	.	.	.	2.86	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.3938	0.38390	0.0:0.0:1.0:0.0	.	.	.	.	X	694	.	ENSP00000419901:E694X	E	+	1	0	L1TD1	62449114	0.905000	0.30787	0.627000	0.29227	0.036000	0.12997	2.428000	0.44749	1.944000	0.56390	0.305000	0.20034	GAG	L1TD1	-	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	ENSG00000240563		0.328	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	HGNC	protein_coding	OTTHUMT00000024688.1		0	35	0	G	NM_019079		62676526	1			no_errors	ENST00000498273	ensembl	human	known	74_37	nonsense	7.14	39	3	SNP	0.615	T	T	62676526	G	T	62676526	4	4	152	1	0	0	0	0	0	1	0	0	8617	943	33	3	2086	3	L1TD1	1	62676526	Nonsense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	15649350	62676526	186574095	5	38610											
SLC44A5	204962	genome.wustl.edu	37	chr1	75684212	75684212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtaaaaagtggatatcGtgggatgtcatcaggttttt	11	14	12	4	1	2	0	2	0	0	0	3	2	2	2	0	3	1	3	0	3	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:75684212G>A	ENST00000370855.5	-	17	1605	c.1492C>T	c.(1492-1494)Cga>Tga	p.R498*	SLC44A5_ENST00000370859.3_Nonsense_Mutation_p.R498*|SLC44A5_ENST00000535611.1_Nonsense_Mutation_p.R368*	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	498					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						AGTGGATATCGTGGGATGTCA	0.428																																																	0													166	155	159					1																	75684212		2203	4300	6503	SO:0001587	stop_gained	0			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1492C>T	1.37:g.75684212G>A	ENSP00000359892:p.Arg498*		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Nonsense_Mutation	SNP	pfam_Choline_transptr-like	p.R498*	ENST00000370855.5	37	c.1492	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.869669	0.97049	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	.	.	.	5.6	2.68	0.31781	.	0.392641	0.30584	N	0.009320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-2.0654	3.1286	0.06415	0.2097:0.1205:0.546:0.1238	.	.	.	.	X	498;537;498;368;491	.	ENSP00000359892:R498X	R	-	1	2	SLC44A5	75456800	0.081000	0.21417	0.937000	0.37676	0.351000	0.29236	-0.048000	0.11944	0.850000	0.35239	0.655000	0.94253	CGA	SLC44A5	-	pfam_Choline_transptr-like	ENSG00000137968		0.428	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	-	0	95	0	G	NM_152697		75684212	-1	tier1	-	no_errors	ENST00000370855	ensembl	human	known	74_37	nonsense	19.75	65	16	SNP	0.922	A	A	75684212	G	A	75684212	4	1	152	1	0	0	0	0	0	1	0	0	14684	1153	40	1	810	1	SLC44A5	1	75684212	Nonsense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	13007686	75684212	173566409	6	38611											
C1orf88	128344	genome.wustl.edu	37	chr1	111889664	111889664	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagggcctgggtgttattTttcagatgtgagtattcacc	8	14	12	7	0	2	3	2	1	0	2	2	3	2	3	2	2	0	2	2	2	2	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:111889664T>A	ENST00000369738.4	+	2	517	c.152T>A	c.(151-153)tTt>tAt	p.F51Y	PIFO_ENST00000369737.4_Missense_Mutation_p.F51Y|PIFO_ENST00000484512.1_3'UTR	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	51					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										GGGTGTTATTTTTCAGATGTG	0.463																																																	0													63	63	63					1																	111889664		2203	4300	6503	SO:0001583	missense	0			BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"chromosome 1 open reading frame 88"	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.152T>A	1.37:g.111889664T>A	ENSP00000358753:p.Phe51Tyr		D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	NULL	p.F51Y	ENST00000369738.4	37	c.152	CCDS833.1	1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.117214	0.00349	.	.	ENSG00000173947	ENST00000369738;ENST00000369737	T;T	0.22743	1.94;1.98	4.82	0.849	0.18972	.	2.042440	0.01577	N	0.020898	T	0.02119	0.0066	N	0.08118	0	0.09310	N	1	B;B;B	0.29531	0.247;0.003;0.037	B;B;B	0.31495	0.131;0.002;0.058	T	0.20605	-1.0270	10	0.02654	T	1	1.8507	2.7636	0.05314	0.2148:0.4087:0.0:0.3765	.	51;51;51	Q8TCI5-2;Q8TCI5-3;Q8TCI5	.;.;PIFO_HUMAN	Y	51	ENSP00000358753:F51Y;ENSP00000358752:F51Y	ENSP00000358752:F51Y	F	+	2	0	C1orf88	111691187	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.520000	0.22878	-0.022000	0.13986	0.459000	0.35465	TTT	PIFO	-	NULL	ENSG00000173947		0.463	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIFO	HGNC	protein_coding	OTTHUMT00000030718.1	-	0	51	0	T	NM_181643		111889664	1	tier1	-	no_errors	ENST00000369738	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.000	A	A	111889664	T	A	111889664	3	1	152	1	0	0	0	0	1	0	0	0	2072	1841	64	5	158	5	C1orf88	1	111889664	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	36205452	111889664	137360957	7	38612											
ZNF697	90874	genome.wustl.edu	37	chr1	120165646	120165646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagcccttcccgcactcGcggcacacgtagggccgctc	6	5	11	19	6	0	0	0	0	0	0	3	1	1	0	4	2	1	4	4	2	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:120165646G>A	ENST00000421812.2	-	3	1439	c.1320C>T	c.(1318-1320)cgC>cgT	p.R440R		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	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)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TCCCGCACTCGCGGCACACGT	0.667																																																	0													15	17	17					1																	120165646		2183	4288	6471	SO:0001819	synonymous_variant	0			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1320C>T	1.37:g.120165646G>A			Q96IT2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R440	ENST00000421812.2	37	c.1320	CCDS44202.1	1																																																																																			ZNF697	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000143067		0.667	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	HGNC	protein_coding	OTTHUMT00000036349.3	-	0	36	0	G	XM_371286		120165646	-1	tier1	-	no_errors	ENST00000421812	ensembl	human	known	74_37	silent	38.46	24	15	SNP	0.995	A	A	120165646	G	A	120165646	2	1	152	1	0	0	0	0	0	0	0	1	18148	1074	38	1		1	ZNF697	1	120165646	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	8275982	120165646	129084975	8	38613											
FLG2	388698	genome.wustl.edu	37	chr1	152324362	152324362	+	Missense_Mutation	SNP	A	A	G	1	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	gtcctgaatgtgtgtgtgagAcccctgagggcccttcactg	6	11	13	11	0	1	3	1	3	0	1	2	4	2	3	4	1	0	0	4	1	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:152324362A>G	ENST00000388718.5	-	3	5972	c.5900T>C	c.(5899-5901)gTc>gCc	p.V1967A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1967					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)			TGTGTGTGAGACCCCTGAGGG	0.522																																																	0													355	331	339					1																	152324362		2203	4300	6503	SO:0001583	missense	0			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.5900T>C	1.37:g.152324362A>G	ENSP00000373370:p.Val1967Ala		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.V1967A	ENST00000388718.5	37	c.5900	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	a	0.939	-0.710016	0.03230	.	.	ENSG00000143520	ENST00000388718	T	0.03689	3.84	4.23	-8.47	0.00939	.	.	.	.	.	T	0.00637	0.0021	L	0.55481	1.735	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.50423	-0.8830	9	0.08599	T	0.76	4.0714	2.5291	0.04698	0.1216:0.3935:0.2151:0.2697	.	1967	Q5D862	FILA2_HUMAN	A	1967	ENSP00000373370:V1967A	ENSP00000373370:V1967A	V	-	2	0	FLG2	150590986	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.326000	0.00252	-3.335000	0.00184	-2.359000	0.00239	GTC	FLG2	-	NULL	ENSG00000143520		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0	137	0	A	NM_001014342		152324362	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	15.32	92	17	SNP	0.000	G	G	152324362	A	G	152324362	3	3	152	1	0	0	0	0	1	0	0	0	5945	275	10	4	1279	4	FLG2	1	152324362	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	32158716	152324362	96926259	9	38614											
NUP210L	91181	genome.wustl.edu	37	chr1	154076545	154076545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagatccaaggataaatGagagcagtctgtgaatgcca	14	9	11	7	0	2	3	1	2	1	2	3	5	3	4	2	1	2	2	2	1	4	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:154076545G>T	ENST00000368559.3	-	13	1833	c.1762C>A	c.(1762-1764)Cat>Aat	p.H588N	NUP210L_ENST00000271854.3_Missense_Mutation_p.H588N|MIR5698_ENST00000577643.1_RNA	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	588					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)			AAGGATAAATGAGAGCAGTCT	0.368																																																	0													145	133	137					1																	154076545		1865	4100	5965	SO:0001583	missense	0			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.1762C>A	1.37:g.154076545G>T	ENSP00000357547:p.His588Asn		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.H588N	ENST00000368559.3	37	c.1762	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825148	0.32237	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05855	3.38;3.38	4.7	4.7	0.59300	.	0.212784	0.32918	N	0.005487	T	0.02119	0.0066	L	0.36672	1.1	0.34441	D	0.699661	P;P	0.45569	0.608;0.861	B;B	0.35182	0.129;0.197	T	0.55231	-0.8173	10	0.15952	T	0.53	-21.8531	15.5711	0.76337	0.0:0.0:1.0:0.0	.	588;588	E7EP56;Q5VU65	.;P210L_HUMAN	N	588	ENSP00000357547:H588N;ENSP00000271854:H588N	ENSP00000271854:H588N	H	-	1	0	NUP210L	152343169	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.693000	0.54735	2.439000	0.82584	0.555000	0.69702	CAT	NUP210L	-	NULL	ENSG00000143552		0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	-	0	52	0	G	NM_207308		154076545	-1	tier1	-	no_errors	ENST00000368559	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	154076545	G	T	154076545	3	4	152	1	0	0	0	0	1	0	0	0	10800	1290	45	3	4016	3	NUP210L	1	154076545	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	1752183	154076545	95174076	10	38615											
DCST2	127579	genome.wustl.edu	37	chr1	155005215	155005215	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccacctctttggtcttccGggcaatagctttaatcttgt	7	15	8	11	1	3	0	0	0	3	0	4	0	4	0	3	2	2	2	3	2	3	6	rs372382713		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:155005215G>T	ENST00000368424.3	-	3	527	c.469C>A	c.(469-471)Cgg>Agg	p.R157R	DCST2_ENST00000295536.5_Silent_p.R157R|DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000392480.1_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	157						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)			TTGGTCTTCCGGGCAATAGCT	0.517																																																	0													88	83	85					1																	155005215		2203	4300	6503	SO:0001819	synonymous_variant	0			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.469C>A	1.37:g.155005215G>T			Q2M2R2|Q8N810|Q96M03	Silent	SNP	pfam_DC_STAMP-like	p.R157	ENST00000368424.3	37	c.469	CCDS1082.2	1																																																																																			DCST2	-	NULL	ENSG00000163354		0.517	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	-	0	67	0	G	NM_144622		155005215	-1	tier1	-	no_errors	ENST00000368424	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.190	T	T	155005215	G	T	155005215	2	4	152	1	0	0	0	0	0	0	0	1	4312	1115	39	2		2	DCST2	1	155005215	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	928670	155005215	94245406	11	38616											
OR10R2	343406	genome.wustl.edu	37	chr1	158450337	158450337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgatattcatttgtggaGttcttgtacttgtggttccc	5	20	10	6	0	2	1	1	1	1	0	3	2	3	2	1	2	1	3	1	2	2	9			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:158450337G>T	ENST00000368152.1	+	1	670	c.670G>T	c.(670-672)Gtt>Ttt	p.V224F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V224F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CATTTGTGGAGTTCTTGTACT	0.423																																																	2	Substitution - Missense(2)	lung(2)											153	139	144					1																	158450337		2203	4300	6503	SO:0001583	missense	0			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.670G>T	1.37:g.158450337G>T	ENSP00000357134:p.Val224Phe		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V224F	ENST00000368152.1	37	c.670	CCDS30898.1	1	.	.	.	.	.	.	.	.	.	.	g	14.36	2.511594	0.44660	.	.	ENSG00000198965	ENST00000368152	T	0.39592	1.07	4.37	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.37571	0.1008	L	0.43701	1.375	0.09310	N	1	D	0.60575	0.988	D	0.69654	0.965	T	0.12760	-1.0535	9	0.62326	D	0.03	.	8.3543	0.32321	0.1919:0.0:0.8081:0.0	.	224	Q8NGX6	O10R2_HUMAN	F	224	ENSP00000357134:V224F	ENSP00000357134:V224F	V	+	1	0	OR10R2	156716961	0.000000	0.05858	0.118000	0.21660	0.987000	0.75469	-0.247000	0.08866	1.024000	0.39682	0.655000	0.94253	GTT	OR10R2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198965		0.423	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	HGNC	protein_coding	OTTHUMT00000051847.2	-	0	75	0	G	NM_001004472		158450337	1	tier1	-	no_errors	ENST00000368152	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.007	T	T	158450337	G	T	158450337	3	4	152	1	0	0	0	0	1	0	0	0	10956	1029	36	3	672	3	OR10R2	1	158450337	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	3445122	158450337	90800284	12	38617											
PRRX1	5396	genome.wustl.edu	37	chr1	170705262	170705262	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	tcaacatggccaacagcattGccaacctgagactgaaggcc	13	6	9	13	0	1	2	1	2	0	1	1	3	1	2	4	2	5	1	4	2	4	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:170705262G>C	ENST00000239461.6	+	4	986	c.673G>C	c.(673-675)Gcc>Ccc	p.A225P	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	225					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAACAGCATTGCCAACCTGAG	0.468																																																	0													143	144	144					1																	170705262		2203	4300	6503	SO:0001583	missense	0			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.673G>C	1.37:g.170705262G>C	ENSP00000239461:p.Ala225Pro		B5BUM7|O60807	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.A225P	ENST00000239461.6	37	c.673	CCDS1290.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.886038	0.91814	.	.	ENSG00000116132	ENST00000239461;ENST00000476867	D;D	0.98684	-5.07;-5.07	6.06	6.06	0.98353	Paired-like homeodomain protein, OAR (2);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97685	1.0175	10	0.30078	T	0.28	.	19.192	0.93671	0.0:0.0:1.0:0.0	.	225	P54821	PRRX1_HUMAN	P	225;70	ENSP00000239461:A225P;ENSP00000451225:A70P	ENSP00000356734:A225P	A	+	1	0	PRRX1	168971886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.233000	0.95337	2.871000	0.98454	0.655000	0.94253	GCC	PRRX1	-	pfam_OAR_dom,pfscan_OAR_dom	ENSG00000116132		0.468	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	-	0	65	0	G	NM_006902		170705262	1	tier1	-	no_errors	ENST00000239461	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	C	C	170705262	G	C	170705262	3	2	152	1	0	0	0	0	1	0	0	0	12654	1319	46	5	746	5	PRRX1	1	170705262	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	12254925	170705262	78545359	13	38618											
KIAA1614	57710	genome.wustl.edu	37	chr1	180885503	180885503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgctggaatccaaggtgagGgctttgaaggagaagatgac	12	8	16	5	0	0	5	0	3	0	2	1	7	1	6	1	4	1	2	1	4	4	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:180885503G>T	ENST00000367588.4	+	2	319	c.264G>T	c.(262-264)agG>agT	p.R88S		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	88										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCAAGGTGAGGGCTTTGAAGG	0.587																																																	0													62	69	66					1																	180885503		1977	4157	6134	SO:0001583	missense	0			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.264G>T	1.37:g.180885503G>T	ENSP00000356560:p.Arg88Ser		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	NULL	p.R88S	ENST00000367588.4	37	c.264	CCDS41442.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887977	0.72410	.	.	ENSG00000135835	ENST00000367588	T	0.04194	3.68	5.08	2.82	0.32997	.	0.157396	0.30244	N	0.010065	T	0.07683	0.0193	N	0.24115	0.695	0.26448	N	0.975657	D	0.69078	0.997	D	0.63283	0.913	T	0.13150	-1.0520	9	0.66056	D	0.02	-15.3902	5.6547	0.17637	0.3157:0.0:0.6843:0.0	.	88	Q5VZ46	K1614_HUMAN	S	88	ENSP00000356560:R88S	ENSP00000356560:R88S	R	+	3	2	KIAA1614	179152126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.369000	0.20416	1.200000	0.43188	0.655000	0.94253	AGG	KIAA1614	-	NULL	ENSG00000135835		0.587	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	-	0	86	0	G	XM_046531		180885503	1	tier1	-	no_errors	ENST00000367588	ensembl	human	known	74_37	missense	5.81	81	5	SNP	1.000	T	T	180885503	G	T	180885503	3	4	152	1	0	0	0	0	1	0	0	0	8275	1223	43	3	270	3	KIAA1614	1	180885503	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	10180241	180885503	68365118	14	38619											
CACNA1E	777	genome.wustl.edu	37	chr1	181740473	181740473	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggagagtcacatcaaccgGcacaacaacttccggagttt	13	7	10	11	2	2	1	2	0	0	1	3	4	3	2	2	3	3	2	2	3	3	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:181740473G>A	ENST00000367573.2	+	36	4926	c.4926G>A	c.(4924-4926)cgG>cgA	p.R1642R	CACNA1E_ENST00000360108.3_Silent_p.R1623R|CACNA1E_ENST00000367567.4_Silent_p.R1249R|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000358338.5_Silent_p.R1574R|CACNA1E_ENST00000367570.1_Silent_p.R1642R|CACNA1E_ENST00000357570.5_Silent_p.R1593R|CACNA1E_ENST00000526775.1_Silent_p.R1623R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1642					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						ACATCAACCGGCACAACAACT	0.468																																																	0													119	109	112					1																	181740473		1935	4126	6061	SO:0001819	synonymous_variant	0			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.4926G>A	1.37:g.181740473G>A			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R1642	ENST00000367573.2	37	c.4926	CCDS55664.1	1																																																																																			CACNA1E	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000198216		0.468	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	70	0	G	NM_000721		181740473	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	5.88	80	5	SNP	0.997	A	A	181740473	G	A	181740473	2	1	152	1	0	0	0	0	0	0	0	1	2549	1190	42	3		3	CACNA1E	1	181740473	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	854970	181740473	67510148	15	38620											
CRB1	23418	genome.wustl.edu	37	chr1	197390573	197390573	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtgaagctggagctgctaAgtggctacattcacttatca	10	13	10	8	0	2	1	2	1	0	0	2	2	2	2	0	2	4	4	0	2	4	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:197390573A>C	ENST00000367400.3	+	6	1750	c.1615A>C	c.(1615-1617)Agt>Cgt	p.S539R	CRB1_ENST00000538660.1_Missense_Mutation_p.S539R|CRB1_ENST00000535699.1_Missense_Mutation_p.S470R|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.S238R|CRB1_ENST00000544212.1_Missense_Mutation_p.S20R|CRB1_ENST00000367399.2_Missense_Mutation_p.S427R	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	539	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGAGCTGCTAAGTGGCTACAT	0.458																																																	0													123	122	122					1																	197390573		2203	4300	6503	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1615A>C	1.37:g.197390573A>C	ENSP00000356370:p.Ser539Arg		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S539R	ENST00000367400.3	37	c.1615	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	A	8.094	0.775094	0.16051	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000544212;ENST00000367401	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.82	-4.6	0.03390	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.63838	0.2545	L	0.54323	1.7	0.09310	N	1	P;P;P;B;B	0.39060	0.657;0.478;0.478;0.001;0.381	B;B;B;B;B	0.34873	0.191;0.055;0.122;0.003;0.084	T	0.52786	-0.8529	9	0.20046	T	0.44	.	6.793	0.23709	0.5103:0.1915:0.2981:0.0	.	539;470;427;188;539	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	R	470;539;539;427;238;20;188	ENSP00000438786:S470R;ENSP00000438091:S539R;ENSP00000356370:S539R;ENSP00000356369:S427R;ENSP00000439579:S238R;ENSP00000444556:S20R	ENSP00000356369:S427R	S	+	1	0	CRB1	195657196	0.001000	0.12720	0.000000	0.03702	0.048000	0.14542	1.168000	0.31859	-1.217000	0.02604	-0.297000	0.09499	AGT	CRB1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000134376		0.458	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	0	65	0	A	NM_201253		197390573	1	tier1	-	no_errors	ENST00000367400	ensembl	human	known	74_37	missense	20.90	53	14	SNP	0.000	C	C	197390573	A	C	197390573	3	2	152	1	0	0	0	0	1	0	0	0	3855	72	3	4	1637	4	CRB1	1	197390573	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	15650100	197390573	51860048	16	38621											
PTPRC	5788	genome.wustl.edu	37	chr1	198723495	198723495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatttttcaagtggtaaaaGctctacgcaaagctaggcca	14	11	8	8	1	2	0	1	0	1	0	2	0	2	0	1	2	3	4	1	2	7	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:198723495G>T	ENST00000367376.2	+	32	3772	c.3601G>T	c.(3601-3603)Gct>Tct	p.A1201S	PTPRC_ENST00000352140.3_Missense_Mutation_p.A1153S|PTPRC_ENST00000348564.6_Missense_Mutation_p.A1042S|PTPRC_ENST00000594404.1_Missense_Mutation_p.A1040S|PTPRC_ENST00000442510.2_Missense_Mutation_p.A1203S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1201	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A1201S(1)		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						AGTGGTAAAAGCTCTACGCAA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											128	127	127					1																	198723495		2203	4300	6503	SO:0001583	missense	0			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.3601G>T	1.37:g.198723495G>T	ENSP00000356346:p.Ala1201Ser		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.A1203S	ENST00000367376.2	37	c.3607		1	.	.	.	.	.	.	.	.	.	.	G	2.753	-0.259619	0.05791	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D	0.82893	-1.66	6.02	3.69	0.42338	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.307027	0.23698	N	0.045443	T	0.60248	0.2254	N	0.02916	-0.46	0.27843	N	0.941048	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.15052	0.012;0.012;0.012	T	0.42699	-0.9436	10	0.02654	T	1	.	14.0661	0.64831	0.0:0.0:0.477:0.523	.	1042;1153;1201	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	S	1203;1153;1201;1040	ENSP00000193532:A1153S	ENSP00000306782:A1040S	A	+	1	0	PTPRC	196990118	1.000000	0.71417	0.918000	0.36340	0.950000	0.60333	1.432000	0.34936	0.518000	0.28383	-1.075000	0.02238	GCT	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000081237		0.388	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		-	0	72	0	G			198723495	1	tier1	-	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.999	T	T	198723495	G	T	198723495	3	4	152	1	0	0	0	0	1	0	0	0	12842	971	34	3	3734	3	PTPRC	1	198723495	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	1332922	198723495	50527126	17	38622											
ZNF281	23528	genome.wustl.edu	37	chr1	200378072	200378072	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtttctgacttggggaGaggatggcaccttctccatc	7	12	13	9	0	2	3	0	2	2	1	4	5	2	4	2	5	0	2	2	5	0	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:200378072G>T	ENST00000294740.3	-	2	886	c.762C>A	c.(760-762)ctC>ctA	p.L254L	ZNF281_ENST00000367353.1_Silent_p.L254L|ZNF281_ENST00000367352.3_Silent_p.L218L	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	254					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						GACTTGGGGAGAGGATGGCAC	0.483																																																	0													129	120	123					1																	200378072		2203	4300	6503	SO:0001819	synonymous_variant	0			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.762C>A	1.37:g.200378072G>T			A6NF48|B3KMX2|Q5RKW5|Q9NY92	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L254	ENST00000294740.3	37	c.762	CCDS1402.1	1																																																																																			ZNF281	-	NULL	ENSG00000162702		0.483	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	-	0	46	0	G	NM_012482		200378072	-1	tier1	-	no_errors	ENST00000294740	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.987	T	T	200378072	G	T	200378072	2	4	152	1	0	0	0	0	0	0	0	1	17866	929	33	3		3	ZNF281	1	200378072	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	1654577	200378072	48872549	18	38623											
PLXNA2	5362	genome.wustl.edu	37	chr1	208391187	208391187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgctgggggggccagCagcacccagaccactgagag	8	3	16	14	1	0	2	0	1	0	2	0	3	0	2	4	4	3	4	4	4	0	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:208391187C>T	ENST00000367033.3	-	2	838	c.81G>A	c.(79-81)ctG>ctA	p.L27L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	27					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)		GGGGGGCCAGCAGCACCCAGA	0.667																																																	0													43	47	46					1																	208391187		2203	4300	6503	SO:0001819	synonymous_variant	0			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.81G>A	1.37:g.208391187C>T			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L27	ENST00000367033.3	37	c.81	CCDS31013.1	1																																																																																			PLXNA2	-	pfscan_Semap_dom	ENSG00000076356		0.667	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0	38	0	C	NM_025179		208391187	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	silent	48.28	15	14	SNP	1.000	T	T	208391187	C	T	208391187	2	4	152	1	0	0	0	0	0	0	0	1	12159	697	25	3		3	PLXNA2	1	208391187	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	8013115	208391187	40859434	19	38624											
ANGEL2	90806	genome.wustl.edu	37	chr1	213186441	213186441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcacctttaccttggtGttttcttcgttttgatgaag	7	19	8	7	1	2	2	1	2	1	0	3	2	2	2	2	1	1	2	2	1	3	8			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:213186441G>T	ENST00000366962.3	-	2	533	c.379C>A	c.(379-381)Cac>Aac	p.H127N	ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	127										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTACCTTGGTGTTTTCTTCGT	0.378																																																	0													112	111	111					1																	213186441		2203	4299	6502	SO:0001583	missense	0			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.379C>A	1.37:g.213186441G>T	ENSP00000355929:p.His127Asn		B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.H127N	ENST00000366962.3	37	c.379	CCDS1512.1	1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108121	0.37242	.	.	ENSG00000174606	ENST00000366962;ENST00000310246	T	0.21734	1.99	5.45	3.54	0.40534	.	0.230786	0.30311	N	0.009914	T	0.11024	0.0269	N	0.19112	0.55	0.80722	D	1	B;B	0.29716	0.255;0.057	B;B	0.21360	0.034;0.016	T	0.16217	-1.0410	10	0.25751	T	0.34	-14.9256	8.6641	0.34110	0.1384:0.0:0.7362:0.1254	.	105;127	Q96AL9;Q5VTE6	.;ANGE2_HUMAN	N	127;105	ENSP00000355929:H127N	ENSP00000309755:H105N	H	-	1	0	ANGEL2	211253064	0.937000	0.31787	1.000000	0.80357	0.997000	0.91878	0.657000	0.24963	1.420000	0.47138	0.563000	0.77884	CAC	ANGEL2	-	NULL	ENSG00000174606		0.378	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	HGNC	protein_coding	OTTHUMT00000089693.1	-	0	79	0	G	NM_144567		213186441	-1	tier1	-	no_errors	ENST00000366962	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	213186441	G	T	213186441	3	4	152	1	0	0	0	0	1	0	0	0	609	1377	48	3	1287	3	ANGEL2	1	213186441	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	4795254	213186441	36064180	20	38625											
AIDA	64853	genome.wustl.edu	37	chr1	222843563	222843563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacctttttttaggcttgtAgtgtttgaattcaaagaaga	13	16	8	4	0	1	3	1	1	0	2	1	3	1	3	1	1	1	3	1	1	6	8			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:222843563A>G	ENST00000340020.6	-	9	942	c.736T>C	c.(736-738)Tac>Cac	p.Y246H	AIDA_ENST00000541237.1_Missense_Mutation_p.Y222H|AIDA_ENST00000355727.2_Missense_Mutation_p.Y164H|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	246					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TTAGGCTTGTAGTGTTTGAAT	0.353																																																	0													57	55	55					1																	222843563		2203	4300	6503	SO:0001583	missense	0			BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"axin interaction partner and dorsalization antagonist"	612375	"chromosome 1 open reading frame 80"	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.736T>C	1.37:g.222843563A>G	ENSP00000339161:p.Tyr246His		A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	pfam_AIDA_N,superfamily_AIDA_N	p.Y222H	ENST00000340020.6	37	c.664	CCDS1533.1	1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238298	0.79800	.	.	ENSG00000186063	ENST00000340020;ENST00000355727;ENST00000541237	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	M	0.72894	2.215	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79784	0.988;0.993	T	0.80961	-0.1148	9	0.87932	D	0	.	16.315	0.82915	1.0:0.0:0.0:0.0	.	222;246	F5H715;Q96BJ3	.;AIDA_HUMAN	H	246;164;222	.	ENSP00000339161:Y246H	Y	-	1	0	AIDA	220910186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.137000	0.94496	2.250000	0.74265	0.533000	0.62120	TAC	AIDA	-	pfam_AIDA_N	ENSG00000186063		0.353	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AIDA	HGNC	protein_coding	OTTHUMT00000091818.1	-	0	111	0	A	NM_022831		222843563	-1	tier1	-	no_errors	ENST00000541237	ensembl	human	known	74_37	missense	39.29	50	33	SNP	1.000	G	G	222843563	A	G	222843563	3	3	152	1	0	0	0	0	1	0	0	0	423	420	15	4	192	4	AIDA	1	222843563	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	9657122	222843563	26407058	21	38626											
SLC35F3	148641	genome.wustl.edu	37	chr1	234458986	234458986	+	Silent	SNP	C	C	T	0	0	0	1	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	gcccgcccttccttcgcccgCtaacaccactcctctagaac	7	8	5	21	3	1	1	0	0	1	1	4	1	3	1	6	0	2	1	6	0	3	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:234458986C>T	ENST00000366617.3	+	7	1491	c.1263C>T	c.(1261-1263)cgC>cgT	p.R421R	SLC35F3_ENST00000366618.3_Silent_p.R490R			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	421					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCTTCGCCCGCTAACACCACT	0.562											OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													41	38	39					1																	234458986		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.1263C>T	1.37:g.234458986C>T		2373	Q5TDD6|Q8N9C9	Silent	SNP	pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6	p.R421	ENST00000366617.3	37	c.1263		1																																																																																			SLC35F3	-	NULL	ENSG00000183780		0.562	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	SLC35F3	HGNC	protein_coding	OTTHUMT00000128322.1	-	0	27	0	C	NM_173508		234458986	1	tier1	-	no_errors	ENST00000366617	ensembl	human	known	74_37	silent	30.77	18	8	SNP	1.000	T	T	234458986	C	T	234458986	2	4	152	1	0	0	0	0	0	0	0	1	14635	784	28	3		3	SLC35F3	1	234458986	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	11615423	234458986	14791635	22	38627											
CHRM3	1131	genome.wustl.edu	37	chr1	240071039	240071039	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgtgtcatttaaggtcaaCaagcagctgaagacggtcaa	14	10	10	7	1	3	2	3	1	0	1	3	2	3	2	0	2	3	2	0	2	5	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:240071039C>G	ENST00000255380.4	+	5	1067	c.288C>G	c.(286-288)aaC>aaG	p.N96K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	96					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)	TTAAGGTCAACAAGCAGCTGA	0.473																																																	0													126	103	111					1																	240071039		2203	4300	6503	SO:0001583	missense	0			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.288C>G	1.37:g.240071039C>G	ENSP00000255380:p.Asn96Lys		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.N96K	ENST00000255380.4	37	c.288	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419674	0.62622	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.35973	2.13;1.28	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	L	0.60904	1.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55842	-0.8077	10	0.72032	D	0.01	-35.7685	13.4661	0.61254	0.0:0.9291:0.0:0.0709	.	96	P20309	ACM3_HUMAN	K	96	ENSP00000255380:N96K;ENSP00000404764:N96K	ENSP00000255380:N96K	N	+	3	2	CHRM3	238137662	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.627000	0.46469	2.788000	0.95919	0.650000	0.86243	AAC	CHRM3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt	ENSG00000133019		0.473	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	-	0	119	0	C	NM_000740		240071039	1	tier1	-	no_errors	ENST00000255380	ensembl	human	known	74_37	missense	21.05	60	16	SNP	1.000	G	G	240071039	C	G	240071039	3	3	152	1	0	0	0	0	1	0	0	0	3385	477	17	5	290	5	CHRM3	1	240071039	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	5612053	240071039	9179582	23	38628											
TRIM58	25893	genome.wustl.edu	37	chr1	248039702	248039702	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatgcaactcctcttatcTtgccacccacaacaatagca	12	10	5	14	0	2	1	0	1	2	0	3	1	3	1	3	0	5	2	3	0	5	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:248039702T>G	ENST00000366481.3	+	6	1420	c.1372T>G	c.(1372-1374)Ttg>Gtg	p.L458V	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	458	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCTCTTATCTTGCCACCCAC	0.418																																																	0													123	117	119					1																	248039702		2203	4300	6503	SO:0001583	missense	0			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.1372T>G	1.37:g.248039702T>G	ENSP00000355437:p.Leu458Val		Q6B0H9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L458V	ENST00000366481.3	37	c.1372	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.649326	0.47362	.	.	ENSG00000162722	ENST00000366481	T	0.62788	0.0	4.05	-4.25	0.03766	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.000000	0.44483	D	0.000446	T	0.65365	0.2684	L	0.41961	1.31	0.09310	N	1	D	0.65815	0.995	D	0.68039	0.955	T	0.64803	-0.6321	10	0.66056	D	0.02	.	12.5611	0.56281	0.0:0.702:0.0:0.298	.	458	Q8NG06	TRI58_HUMAN	V	458	ENSP00000355437:L458V	ENSP00000355437:L458V	L	+	1	2	TRIM58	246106325	0.001000	0.12720	0.000000	0.03702	0.065000	0.16274	-0.245000	0.08890	-0.888000	0.03956	0.528000	0.53228	TTG	TRIM58	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000162722		0.418	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	-	0	69	0	T	NM_015431		248039702	1	tier1	-	no_errors	ENST00000366481	ensembl	human	known	74_37	missense	38.24	42	26	SNP	0.000	G	G	248039702	T	G	248039702	3	3	152	1	0	0	0	0	1	0	0	0	16579	1606	56	4	1394	4	TRIM58	1	248039702	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	7968663	248039702	1210919	24	38629											
OR2M4	26245	genome.wustl.edu	37	chr1	248402855	248402855	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgtgtggtaatgctaatcTttccagtttcagttatcata	9	18	8	6	0	3	0	2	0	1	0	4	0	4	0	1	1	1	5	1	1	4	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:248402855T>C	ENST00000306687.1	+	1	625	c.625T>C	c.(625-627)Ttt>Ctt	p.F209L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	209					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.F209I(1)		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)			AATGCTAATCTTTCCAGTTTC	0.448																																																	1	Substitution - Missense(1)	skin(1)											122	117	119					1																	248402855		2203	4300	6503	SO:0001583	missense	0			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.625T>C	1.37:g.248402855T>C	ENSP00000306688:p.Phe209Leu		Q15611|Q8NG82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F209L	ENST00000306687.1	37	c.625	CCDS31108.1	1	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.490890	0.00161	.	.	ENSG00000171180	ENST00000306687	T	0.31510	1.49	3.34	-2.47	0.06442	GPCR, rhodopsin-like superfamily (1);	0.989051	0.08203	N	0.982037	T	0.11196	0.0273	N	0.02420	-0.555	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.39292	-0.9621	10	0.10636	T	0.68	.	10.4118	0.44299	0.0:0.4495:0.0:0.5505	.	209	Q96R27	OR2M4_HUMAN	L	209	ENSP00000306688:F209L	ENSP00000306688:F209L	F	+	1	0	OR2M4	246469478	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.665000	0.01965	-1.122000	0.02945	-1.446000	0.01064	TTT	OR2M4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171180		0.448	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M4	HGNC	protein_coding	OTTHUMT00000097352.1	-	0	59	0	T	NM_017504		248402855	1	tier1	-	no_errors	ENST00000306687	ensembl	human	known	74_37	missense	38.71	19	12	SNP	0.000	C	C	248402855	T	C	248402855	3	2	152	1	0	0	0	0	1	0	0	0	11051	1609	56	4	627	4	OR2M4	1	248402855	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	363153	248402855	847766	25	38630											
OR2T5	401993	genome.wustl.edu	37	chr1	248652080	248652080	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacctccacagccccatgtActttttcatcagtcaattgt	9	13	4	15	0	3	0	3	0	0	0	4	0	4	0	5	0	2	1	5	0	2	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr1:248652080A>T	ENST00000366473.2	+	1	196	c.191A>T	c.(190-192)tAc>tTc	p.Y64F		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCCCCATGTACTTTTTCATC	0.488																																																	0													20	47	38					1																	248652080		2051	4275	6326	SO:0001583	missense	0			BK004465	CCDS31118.1	1q44	2012-08-09			ENSG00000203661	ENSG00000203661		"GPCR / Class A : Olfactory receptors"	15017	protein-coding gene	gene with protein product							Standard	NM_001004697		Approved		uc001iem.1	Q6IEZ7	OTTHUMG00000040481	ENST00000366473.2:c.191A>T	1.37:g.248652080A>T	ENSP00000355429:p.Tyr64Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y64F	ENST00000366473.2	37	c.191	CCDS31118.1	1	.	.	.	.	.	.	.	.	.	.	a	13.65	2.300776	0.40694	.	.	ENSG00000203661	ENST00000366473	T	0.14391	2.51	2.64	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000661	T	0.36496	0.0969	M	0.84219	2.685	0.30965	N	0.723235	D	0.89917	1.0	D	0.91635	0.999	T	0.41556	-0.9502	10	0.87932	D	0	.	9.8671	0.41150	1.0:0.0:0.0:0.0	.	64	Q6IEZ7	OR2T5_HUMAN	F	64	ENSP00000355429:Y64F	ENSP00000355429:Y64F	Y	+	2	0	OR2T5	246718703	1.000000	0.71417	0.996000	0.52242	0.364000	0.29643	3.259000	0.51515	1.006000	0.39211	0.338000	0.21704	TAC	OR2T5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000203661		0.488	OR2T5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T5	HGNC	protein_coding	OTTHUMT00000097422.1	-	0	59	0	A	NM_001004697		248652080	1	tier1	-	no_errors	ENST00000366473	ensembl	human	known	74_37	missense	11.29	54	7	SNP	1.000	T	T	248652080	A	T	248652080	3	4	152	1	0	0	0	0	1	0	0	0	11067	391	14	5	193	5	OR2T5	1	248652080	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	249225	248652080	598541	26	38631											
SNTG2	54221	genome.wustl.edu	37	chr2	1371218	1371218	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcatggacagtcagagtcTtgccagaaaatacatgtaca	14	10	8	9	0	3	2	2	0	1	2	3	3	3	3	1	1	3	1	1	1	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:1371218T>C	ENST00000308624.5	+	17	1721	c.1592T>C	c.(1591-1593)cTt>cCt	p.L531P	SNTG2_ENST00000407292.1_Missense_Mutation_p.L404P	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	531					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AGTCAGAGTCTTGCCAGAAAA	0.468																																																	0													56	54	54					2																	1371218		692	1591	2283	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1592T>C	2.37:g.1371218T>C	ENSP00000311837:p.Leu531Pro		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L531P	ENST00000308624.5	37	c.1592	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	T	10.33	1.319030	0.23994	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.70045	1.09;-0.45	4.91	4.91	0.64330	.	0.694481	0.14466	N	0.317877	T	0.65154	0.2664	L	0.40543	1.245	0.19575	N	0.999966	D;P	0.56035	0.974;0.924	P;P	0.51135	0.66;0.459	T	0.56697	-0.7936	10	0.45353	T	0.12	.	9.6238	0.39739	0.1559:0.0:0.0:0.8441	.	404;531	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	P	531;404	ENSP00000311837:L531P;ENSP00000385020:L404P	ENSP00000311837:L531P	L	+	2	0	SNTG2	1350225	0.723000	0.28027	0.005000	0.12908	0.030000	0.12068	4.035000	0.57297	1.824000	0.53156	0.533000	0.62120	CTT	SNTG2	-	NULL	ENSG00000172554		0.468	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0	52	0	T	NM_018968		1371218	1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.042	C	C	1371218	T	C	1371218	3	2	152	1	0	0	0	0	1	0	0	0	14920	1609	56	4	1658	4	SNTG2	2	1371218	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09		1371218	241828155	27	38632											
TPO	7173	genome.wustl.edu	37	chr2	1499922	1499922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactttgagtcttgtgacaGcatcactggcatgaacctgg	10	11	11	9	0	2	4	1	3	1	1	2	4	2	4	1	2	2	2	1	2	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:1499922G>A	ENST00000345913.4	+	12	2259	c.2168G>A	c.(2167-2169)aGc>aAc	p.S723N	TPO_ENST00000346956.3_Missense_Mutation_p.S723N|TPO_ENST00000337415.3_Missense_Mutation_p.S723N|TPO_ENST00000382201.3_Missense_Mutation_p.S666N|TPO_ENST00000382198.1_Missense_Mutation_p.S550N|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.S550N|TPO_ENST00000329066.4_Missense_Mutation_p.S723N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	723					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)	TCTTGTGACAGCATCACTGGC	0.542																																																	0													59	60	60					2																	1499922		2203	4300	6503	SO:0001583	missense	0				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.2168G>A	2.37:g.1499922G>A	ENSP00000318820:p.Ser723Asn		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.S723N	ENST00000345913.4	37	c.2168	CCDS1643.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.007|0.007	-1.936454|-1.936454	0.00484|0.00484	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|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	4.39|4.39	0.631|0.631	0.17699|0.17699	.|.	.|1.223500	.|0.05298	.|N	.|0.522394	T|T	0.45696|0.45696	0.1355|0.1355	N|N	0.05306|0.05306	-0.075|-0.075	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.17852	.|0.001;0.024;0.001;0.001	.|B;B;B;B	.|0.22386	.|0.002;0.039;0.002;0.001	T|T	0.35475|0.35475	-0.9787|-0.9787	5|10	.|0.02654	.|T	.|1	-4.5111|-4.5111	7.7797|7.7797	0.29058|0.29058	0.63:0.0:0.37:0.0|0.63:0.0:0.37:0.0	.|.	.|723;550;666;723	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	T|N	198|723;723;723;550;723;666;550;652;197	.|ENSP00000337263:S723N;ENSP00000318820:S723N;ENSP00000263886:S723N;ENSP00000332044:S550N;ENSP00000329869:S723N;ENSP00000371636:S666N;ENSP00000371633:S550N;ENSP00000405788:S652N;ENSP00000419461:S197N	.|ENSP00000329869:S723N	A|S	+|+	1|2	0|0	TPO|TPO	1478929|1478929	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	0.503000|0.503000	0.22610|0.22610	-0.065000|-0.065000	0.13021|0.13021	-0.367000|-0.367000	0.07326|0.07326	GCA|AGC	TPO	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000115705		0.542	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2		0	66	0	G	NM_000547		1499922	1			no_errors	ENST00000329066	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.002	A	A	1499922	G	A	1499922	3	1	152	1	0	0	0	0	1	0	0	0	16458	971	34	3	2210	3	TPO	2	1499922	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	128704	1499922	241699451	28	38633											
PXDN	7837	genome.wustl.edu	37	chr2	1652145	1652145	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgctccgtgagctccgtgTtcagcagctgcgagggcaca	6	7	14	14	4	1	1	1	1	0	0	3	2	3	1	3	1	4	6	3	1	0	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:1652145T>G	ENST00000252804.4	-	17	3457	c.3407A>C	c.(3406-3408)aAc>aCc	p.N1136T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1136					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAGCTCCGTGTTCAGCAGCTG	0.652																																																	0													46	56	53					2																	1652145		2065	4221	6286	SO:0001583	missense	0			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.3407A>C	2.37:g.1652145T>G	ENSP00000252804:p.Asn1136Thr		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.N1136T	ENST00000252804.4	37	c.3407	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431226	0.83776	.	.	ENSG00000130508	ENST00000252804	T	0.66280	-0.2	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	L	0.31371	0.925	0.80722	D	1	D	0.57899	0.981	D	0.66084	0.941	T	0.63462	-0.6632	10	0.23302	T	0.38	-57.6139	15.6164	0.76769	0.0:0.0:0.0:1.0	.	1136	Q92626	PXDN_HUMAN	T	1136	ENSP00000252804:N1136T	ENSP00000252804:N1136T	N	-	2	0	PXDN	1631152	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.954000	0.87848	2.092000	0.63282	0.529000	0.55759	AAC	PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000130508		0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0	78	0	T	XM_056455		1652145	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	45.71	38	32	SNP	1.000	G	G	1652145	T	G	1652145	3	3	152	1	0	0	0	0	1	0	0	0	12892	1725	60	4	1060	4	PXDN	2	1652145	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	152223	1652145	241547228	29	38634											
HPCAL1	3241	genome.wustl.edu	37	chr2	10563192	10563192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcacagacaagatcttcagGcagatggacaccaacaatga	16	5	9	11	1	2	4	1	1	1	3	2	5	2	5	1	2	1	2	1	2	3	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:10563192G>T	ENST00000381765.3	+	5	988	c.462G>T	c.(460-462)agG>agT	p.R154S	HPCAL1_ENST00000307845.3_Missense_Mutation_p.R154S	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	154	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		AGATCTTCAGGCAGATGGACA	0.602																																					Pancreas(70;1384 1800 31595 46836)												0													118	94	102					2																	10563192		2203	4300	6503	SO:0001583	missense	0				CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"EF-hand domain containing"	5145	protein-coding gene	gene with protein product	"visinin-like protein 3", "calcium-binding protein BDR-1"	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.462G>T	2.37:g.10563192G>T	ENSP00000371184:p.Arg154Ser		Q969S5	Missense_Mutation	SNP	pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.R154S	ENST00000381765.3	37	c.462	CCDS1671.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.10|11.10	1.538894|1.538894	0.27475|0.27475	.|.	.|.	ENSG00000115756|ENSG00000115756	ENST00000422133|ENST00000307845;ENST00000381765	.|T;T	.|0.72835	.|-0.69;-0.69	4.93|4.93	1.01|1.01	0.19927|0.19927	.|EF-hand-like domain (1);	.|0.219310	.|0.44483	.|D	.|0.000446	T|T	0.56601|0.56601	0.1996|0.1996	L|L	0.43554|0.43554	1.36|1.36	0.51767|0.51767	D|D	0.999933|0.999933	.|B	.|0.13145	.|0.007	.|B	.|0.15484	.|0.013	T|T	0.38866|0.38866	-0.9641|-0.9641	5|10	.|0.20046	.|T	.|0.44	.|.	9.0049|9.0049	0.36106|0.36106	0.4838:0.0:0.5161:0.0|0.4838:0.0:0.5161:0.0	.|.	.|154	.|P37235	.|HPCL1_HUMAN	S|S	67|154	.|ENSP00000310749:R154S;ENSP00000371184:R154S	.|ENSP00000310749:R154S	A|R	+|+	1|3	0|2	HPCAL1|HPCAL1	10480643|10480643	0.999000|0.999000	0.42202|0.42202	0.994000|0.994000	0.49952|0.49952	0.997000|0.997000	0.91878|0.91878	0.761000|0.761000	0.26489|0.26489	-0.104000|-0.104000	0.12154|0.12154	0.655000|0.655000	0.94253|0.94253	GCA|AGG	HPCAL1	-	pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000115756		0.602	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL1	HGNC	protein_coding	OTTHUMT00000206898.1	-	0	70	0	G	NM_002149		10563192	1	tier1	-	no_errors	ENST00000307845	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.980	T	T	10563192	G	T	10563192	3	4	152	1	0	0	0	0	1	0	0	0	7357	1194	42	3	468	3	HPCAL1	2	10563192	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	8911047	10563192	232636181	30	38635											
NCOA1	8648	genome.wustl.edu	37	chr2	24974952	24974952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagttctcttctccagCaaactccacctgcctccggg	7	10	7	17	1	3	1	1	0	2	1	7	1	5	1	5	1	3	2	5	1	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:24974952C>A	ENST00000406961.1	+	20	4460	c.3808C>A	c.(3808-3810)Caa>Aaa	p.Q1270K	NCOA1_ENST00000395856.3_Missense_Mutation_p.Q1270K|NCOA1_ENST00000538539.1_Missense_Mutation_p.Q1270K|NCOA1_ENST00000405141.1_Missense_Mutation_p.Q1270K|NCOA1_ENST00000348332.3_Missense_Mutation_p.Q1270K|NCOA1_ENST00000288599.5_Missense_Mutation_p.Q1270K|NCOA1_ENST00000407230.1_Missense_Mutation_p.Q1119K			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1270					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)					TCTTCTCCAGCAAACTCCACC	0.532			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													72	67	69					2																	24974952		2203	4300	6503	SO:0001583	missense	0			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.3808C>A	2.37:g.24974952C>A	ENSP00000385216:p.Gln1270Lys		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.Q1270K	ENST00000406961.1	37	c.3808	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270964	0.59540	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02890	4.19;4.17;4.12;4.17;4.19;4.17;4.19	5.14	5.14	0.70334	.	0.192967	0.45126	D	0.000398	T	0.03695	0.0105	L	0.52573	1.65	0.47341	D	0.999395	B;B;B;B;B	0.33694	0.421;0.341;0.231;0.341;0.231	B;B;B;B;B	0.25140	0.039;0.058;0.039;0.058;0.026	T	0.44128	-0.9348	10	0.52906	T	0.07	.	12.772	0.57426	0.0:0.9201:0.0:0.0799	.	1270;1270;1270;1270;1119	A8K1V4;Q15788-3;Q15788;Q15788-2;B5MCN7	.;.;NCOA1_HUMAN;.;.	K	1270;1270;1119;1270;1270;1270;1270	ENSP00000385216:Q1270K;ENSP00000385097:Q1270K;ENSP00000385195:Q1119K;ENSP00000444039:Q1270K;ENSP00000320940:Q1270K;ENSP00000288599:Q1270K;ENSP00000379197:Q1270K	ENSP00000288599:Q1270K	Q	+	1	0	NCOA1	24828456	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	2.368000	0.44222	2.653000	0.90120	0.585000	0.79938	CAA	NCOA1	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000084676		0.532	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	-	0	70	0	C	NM_147223		24974952	1	tier1	-	no_errors	ENST00000348332	ensembl	human	known	74_37	missense	21.05	30	8	SNP	1.000	A	A	24974952	C	A	24974952	3	1	152	1	0	0	0	0	1	0	0	0	10267	711	25	3	3870	3	NCOA1	2	24974952	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	14411760	24974952	218224421	31	38636											
CAD	790	genome.wustl.edu	37	chr2	27462287	27462287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagggcagaaagtgaaggGcaccgtccgccgtgtggtcc	9	6	16	10	3	0	3	0	2	0	1	2	3	2	3	4	3	0	2	4	3	3	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:27462287G>A	ENST00000403525.1	+	32	5297	c.5153G>A	c.(5152-5154)gGc>gAc	p.G1718D	CAD_ENST00000264705.4_Missense_Mutation_p.G1781D			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGTGAAGGGCACCGTCCGC	0.592																																																	0													87	75	79					2																	27462287		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5153G>A	2.37:g.27462287G>A	ENSP00000384510:p.Gly1718Asp		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.G1781D	ENST00000403525.1	37	c.5342		2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706270	0.89018	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.99032	-5.35;-5.28	4.88	4.88	0.63580	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.99591	0.9852	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97625	1.0138	10	0.87932	D	0	-0.782	16.9731	0.86305	0.0:0.0:1.0:0.0	.	1718;1781	F8VPD4;P27708	.;PYR1_HUMAN	D	1781;1718	ENSP00000264705:G1781D;ENSP00000384510:G1718D	ENSP00000264705:G1781D	G	+	2	0	CAD	27315791	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.317000	0.96327	2.407000	0.81776	0.561000	0.74099	GGC	CAD	-	superfamily_Metal-dep_hydrolase_composite	ENSG00000084774		0.592	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1		0	19	0	G			27462287	1			no_errors	ENST00000264705	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	A	A	27462287	G	A	27462287	3	1	152	1	0	0	0	0	1	0	0	0	2572	1203	42	3	5472	3	CAD	2	27462287	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	2487335	27462287	215737086	32	38637											
XDH	7498	genome.wustl.edu	37	chr2	31560520	31560520	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcataccagggtggtgaacTtgtccacgcaggcattgcgg	9	9	13	10	2	1	1	1	1	0	0	2	1	2	1	2	4	3	2	2	4	2	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:31560520T>G	ENST00000379416.3	-	35	3986	c.3938A>C	c.(3937-3939)aAg>aCg	p.K1313T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1313					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)	GGTGGTGAACTTGTCCACGCA	0.587																																					Colon(66;682 1445 30109 40147)												0													137	120	126					2																	31560520		2203	4300	6503	SO:0001583	missense	0			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.3938A>C	2.37:g.31560520T>G	ENSP00000368727:p.Lys1313Thr		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.K1313T	ENST00000379416.3	37	c.3938	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	T	10.39	1.337589	0.24253	.	.	ENSG00000158125	ENST00000379416	T	0.62105	0.05	6.08	2.49	0.30216	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	1.006310	0.07970	N	0.983903	T	0.52693	0.1750	L	0.42744	1.35	0.20307	N	0.999911	B	0.02656	0.0	B	0.04013	0.001	T	0.43081	-0.9413	10	0.49607	T	0.09	.	6.241	0.20791	0.1338:0.199:0.0:0.6673	.	1313	P47989	XDH_HUMAN	T	1313	ENSP00000368727:K1313T	ENSP00000368727:K1313T	K	-	2	0	XDH	31414024	0.110000	0.22057	0.982000	0.44146	0.560000	0.35617	0.718000	0.25866	0.180000	0.19960	-1.139000	0.01908	AAG	XDH	-	superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH	ENSG00000158125		0.587	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	-	0	44	0	T	NM_000379		31560520	-1	tier1	-	no_errors	ENST00000379416	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.699	G	G	31560520	T	G	31560520	3	3	152	1	0	0	0	0	1	0	0	0	17475	1609	56	4	71	4	XDH	2	31560520	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	4098233	31560520	211638853	33	38638											
BIRC6	57448	genome.wustl.edu	37	chr2	32640225	32640225	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagaactaaattctcctctGgtaaggaggactttaccggt	11	12	9	9	1	3	1	1	0	2	1	4	3	3	3	2	4	2	1	2	4	5	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:32640225G>T	ENST00000421745.2	+	10	2000	c.1866G>T	c.(1864-1866)ctG>ctT	p.L622L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	622					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)					ATTCTCCTCTGGTAAGGAGGA	0.383																																					Pancreas(94;175 1509 16028 18060 45422)												0													73	72	72					2																	32640225		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1866G>T	2.37:g.32640225G>T			Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.L622	ENST00000421745.2	37	c.1866	CCDS33175.2	2																																																																																			BIRC6	-	NULL	ENSG00000115760		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0	67	0	G	NM_016252		32640225	1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	silent	6.41	73	5	SNP	0.187	T	T	32640225	G	T	32640225	2	4	152	1	0	0	0	0	0	0	0	1	1440	1335	47	3		3	BIRC6	2	32640225	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	1079705	32640225	210559148	34	38639											
FSHR	2492	genome.wustl.edu	37	chr2	49191063	49191063	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtcatataatcaacttcTtgccttaaaatagatttgtt	13	17	5	6	0	3	2	2	1	1	1	3	2	3	2	1	0	2	1	1	0	6	8			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:49191063T>C	ENST00000406846.2	-	10	1016	c.897A>G	c.(895-897)caA>caG	p.Q299Q	FSHR_ENST00000346173.3_Silent_p.Q237Q|FSHR_ENST00000304421.4_Silent_p.Q273Q|FSHR_ENST00000541117.1_Silent_p.Q35Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	299					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AATCAACTTCTTGCCTTAAAA	0.388									Gonadal Dysgenesis, 46 XX																																								0													140	133	135					2																	49191063		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.897A>G	2.37:g.49191063T>C			A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.Q299	ENST00000406846.2	37	c.897	CCDS1843.1	2																																																																																			FSHR	-	pfam_GnHR_TM,prints_FSH_rcpt	ENSG00000170820		0.388	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	-	0	43	0	T			49191063	-1	tier1	-	no_errors	ENST00000406846	ensembl	human	known	74_37	silent	21.05	29	8	SNP	1.000	C	C	49191063	T	C	49191063	2	2	152	1	0	0	0	0	0	0	0	1	6097	1606	56	4		4	FSHR	2	49191063	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	16550838	49191063	194008310	35	38640											
SMEK2	57223	genome.wustl.edu	37	chr2	55792177	55792177	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtaagagacttgatatcttCctgtataagcacaaaattta	16	13	6	6	0	1	2	0	1	1	1	2	3	2	2	1	0	1	3	1	0	7	8			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:55792177C>T	ENST00000345102.5	-	14	2237	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	SMEK2_ENST00000272313.5_Splice_Site_p.E561K|SMEK2_ENST00000407823.3_Splice_Site_p.E614K|SNORA12_ENST00000390873.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	646					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)			TTGATATCTTCCTGTATAAGC	0.269																																																	0													48	45	46					2																	55792177		2198	4292	6490	SO:0001630	splice_region_variant	0			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.1936-1G>A	2.37:g.55792177C>T			Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E561K	ENST00000345102.5	37	c.1681	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.191990	0.94923	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;D	0.93763	1.62;-0.09;-3.28	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97056	0.9038	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.979	D;D;D;D;D	0.83275	0.996;0.971;0.994;0.967;0.923	D	0.97277	0.9915	10	0.59425	D	0.04	-12.2001	18.7169	0.91679	0.0:1.0:0.0:0.0	.	614;646;561;646;80	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9;Q5MIZ7-5	.;P4R3B_HUMAN;.;.;.	K	561;614;646	ENSP00000272313:E561K;ENSP00000385912:E614K;ENSP00000339769:E646K	ENSP00000272313:E561K	E	-	1	0	SMEK2	55645681	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.817000	0.86213	2.517000	0.84864	0.655000	0.94253	GAA	SMEK2	-	superfamily_ARM-type_fold	ENSG00000138041		0.269	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1		0	51	0	C	NM_020463	Missense_Mutation	55792177	-1			no_errors	ENST00000272313	ensembl	human	known	74_37	missense	20.83	38	10	SNP	1.000	T	T	55792177	C	T	55792177	5	4	152	1	0	0	0	0	0	0	1	0	14839	869	30	3	629	3	SMEK2	2	55792177	Splice_Site	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	6601114	55792177	187407196	36	38641											
LOXL3	84695	genome.wustl.edu	37	chr2	74762444	74762444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagatgactccagcagtGaagcgggtccctgtcctctt	9	9	11	12	1	1	3	0	2	1	1	4	4	4	3	3	1	3	1	3	1	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:74762444G>T	ENST00000264094.3	-	9	1625	c.1554C>A	c.(1552-1554)ttC>ttA	p.F518L	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.F462L|LOXL3_ENST00000409986.1_Missense_Mutation_p.F373L|LOXL3_ENST00000393937.2_Missense_Mutation_p.F373L	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	518	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTCCAGCAGTGAAGCGGGTCC	0.597																																																	0													79	64	69					2																	74762444		2203	4300	6503	SO:0001583	missense	0			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1554C>A	2.37:g.74762444G>T	ENSP00000264094:p.Phe518Leu		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.F518L	ENST00000264094.3	37	c.1554	CCDS1953.1	2	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443015	0.43326	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	4.81	1.01	0.19927	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.052603	0.85682	D	0.000000	T	0.20941	0.0504	L	0.56340	1.77	0.40013	D	0.975315	P;B;P;P	0.43024	0.679;0.01;0.578;0.798	B;B;B;B	0.43680	0.335;0.028;0.309;0.427	T	0.15954	-1.0419	10	0.09338	T	0.73	.	7.0171	0.24895	0.4352:0.0:0.5648:0.0	.	373;462;373;518	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	L	518;373;462;373	ENSP00000264094:F518L;ENSP00000377512:F373L;ENSP00000386696:F462L;ENSP00000386545:F373L	ENSP00000264094:F518L	F	-	3	2	LOXL3	74615952	0.983000	0.35010	1.000000	0.80357	0.993000	0.82548	0.227000	0.17795	0.336000	0.23639	0.563000	0.77884	TTC	LOXL3	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000115318		0.597	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	HGNC	protein_coding	OTTHUMT00000252215.1	-	0	57	0	G	NM_032603		74762444	-1	tier1	-	no_errors	ENST00000264094	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	74762444	G	T	74762444	3	4	152	1	0	0	0	0	1	0	0	0	8936	1281	45	3	731	3	LOXL3	2	74762444	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	18970267	74762444	168436929	37	38642											
GGCX	2677	genome.wustl.edu	37	chr2	85780094	85780094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagcccagttcgccagtgcGgccatcacggtaggtgatct	7	9	13	12	3	2	1	1	1	1	0	3	1	2	1	3	3	2	3	3	3	2	3	rs568608275		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:85780094G>A	ENST00000233838.4	-	9	1335	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.R362C	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	419					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TCGCCAGTGCGGCCATCACGG	0.537													G|||	1	0.000199681	0	0	5008	,	,		20179	0.001		0	False		,,,				2504	0																0													190	177	181					2																	85780094		2203	4300	6503	SO:0001583	missense	0				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1255C>T	2.37:g.85780094G>A	ENSP00000233838:p.Arg419Cys		B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM	p.R419C	ENST00000233838.4	37	c.1255	CCDS1978.1	2	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416559	0.62511	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.92199	-2.99;-2.99	5.54	5.54	0.83059	.	0.514767	0.22518	N	0.059007	D	0.89598	0.6761	N	0.19112	0.55	0.33386	D	0.575539	D;P;P	0.56746	0.977;0.938;0.919	P;P;P	0.53062	0.657;0.471;0.717	D	0.91978	0.5592	10	0.56958	D	0.05	-6.9394	11.9907	0.53173	0.0:0.0:0.827:0.173	.	362;258;419	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	C	419;362	ENSP00000233838:R419C;ENSP00000408045:R362C	ENSP00000233838:R419C	R	-	1	0	GGCX	85633605	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.206000	0.42779	2.601000	0.87937	0.655000	0.94253	CGC	GGCX	-	pfam_VKG_COase	ENSG00000115486		0.537	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	HGNC	protein_coding	OTTHUMT00000252490.3	-	0	85	0	G	NM_000821		85780094	-1	tier1	-	no_errors	ENST00000233838	ensembl	human	known	74_37	missense	15.12	73	13	SNP	1.000	A	A	85780094	G	A	85780094	3	1	152	1	0	0	0	0	1	0	0	0	6382	1116	39	1	1049	1	GGCX	2	85780094	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	11017650	85780094	157419279	38	38643											
SNRNP200	23020	genome.wustl.edu	37	chr2	96952155	96952155	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcaggtccaaaagttcGgttggaggggggtacttctc	7	10	16	8	1	1	0	0	0	1	0	4	1	2	1	1	7	2	5	1	7	3	4	rs144934076		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:96952155G>T	ENST00000323853.5	-	29	3974	c.3897C>A	c.(3895-3897)acC>acA	p.T1299T	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1299					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						CCAAAAGTTCGGTTGGAGGGG	0.507																																																	0													82	94	90					2																	96952155		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3897C>A	2.37:g.96952155G>T			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T1299	ENST00000323853.5	37	c.3897	CCDS2020.1	2																																																																																			SNRNP200	-	superfamily_P-loop_NTPase	ENSG00000144028		0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2		0	57	0	G	NM_014014		96952155	-1			no_errors	ENST00000323853	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.130	T	T	96952155	G	T	96952155	2	4	152	1	0	0	0	0	0	0	0	1	14897	1103	39	2		2	SNRNP200	2	96952155	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	11172061	96952155	146247218	39	38644											
SLC9A4	389015	genome.wustl.edu	37	chr2	103121842	103121842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttgatcttcatcttcatGggtgtgtccactgtgggcaa	7	14	10	10	0	4	1	2	1	2	0	5	1	5	1	2	2	0	1	2	2	1	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:103121842G>T	ENST00000295269.4	+	4	1567	c.1110G>T	c.(1108-1110)atG>atT	p.M370I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	370					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						TCATCTTCATGGGTGTGTCCA	0.512																																																	0													186	149	161					2																	103121842		2203	4300	6503	SO:0001583	missense	0				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.1110G>T	2.37:g.103121842G>T	ENSP00000295269:p.Met370Ile		Q69YK0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.M370I	ENST00000295269.4	37	c.1110	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.198561	0.94997	.	.	ENSG00000180251	ENST00000295269	T	0.13307	2.6	5.51	5.51	0.81932	Cation/H+ exchanger (1);	0.044428	0.85682	D	0.000000	T	0.15478	0.0373	L	0.31804	0.96	0.80722	D	1	B	0.30973	0.302	B	0.34346	0.18	T	0.04347	-1.0958	10	0.66056	D	0.02	.	19.7817	0.96418	0.0:0.0:1.0:0.0	.	370	Q6AI14	SL9A4_HUMAN	I	370	ENSP00000295269:M370I	ENSP00000295269:M370I	M	+	3	0	SLC9A4	102488274	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.125000	0.50469	2.756000	0.94617	0.585000	0.79938	ATG	SLC9A4	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000180251		0.512	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	-	0	62	0	G	NM_001011552.3		103121842	1	tier1	-	no_errors	ENST00000295269	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	103121842	G	T	103121842	3	4	152	1	0	0	0	0	1	0	0	0	14761	1348	47	3	1124	3	SLC9A4	2	103121842	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	6169687	103121842	140077531	40	38645											
GPR45	11250	genome.wustl.edu	37	chr2	105859310	105859310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaatcaaaaaattccGcgaggcctgcatagagttgc	13	8	11	9	2	1	2	1	0	0	2	2	4	2	2	2	2	2	2	2	2	5	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:105859310G>A	ENST00000258456.1	+	1	1111	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R332H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AAAAAATTCCGCGAGGCCTGC	0.557																																																	1	Substitution - Missense(1)	stomach(1)											82	87	85					2																	105859310		2203	4300	6503	SO:0001583	missense	0			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.995G>A	2.37:g.105859310G>A	ENSP00000258456:p.Arg332His		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R332H	ENST00000258456.1	37	c.995	CCDS2066.1	2	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012829	0.54468	.	.	ENSG00000135973	ENST00000258456	T	0.58358	0.34	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.28115	0.83	0.54753	D	0.999987	P	0.51240	0.943	P	0.47786	0.557	T	0.40924	-0.9537	10	0.33940	T	0.23	-27.9142	17.2936	0.87163	0.0:0.0:1.0:0.0	.	332	Q9Y5Y3	GPR45_HUMAN	H	332	ENSP00000258456:R332H	ENSP00000258456:R332H	R	+	2	0	GPR45	105225742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.545000	0.73883	2.696000	0.92011	0.456000	0.33151	CGC	GPR45	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn	ENSG00000135973		0.557	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR45	HGNC	protein_coding	OTTHUMT00000253348.1	-	0	62	0	G	NM_007227		105859310	1	tier1	-	no_errors	ENST00000258456	ensembl	human	known	74_37	missense	37.50	35	21	SNP	1.000	A	A	105859310	G	A	105859310	3	1	152	1	0	0	0	0	1	0	0	0	6722	1087	38	1	997	1	GPR45	2	105859310	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	2737468	105859310	137340063	41	38646											
SEPT10	151011	genome.wustl.edu	37	chr2	110342897	110342897	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gattttccaattccagtttcCcctgaaacacacaaaggtac	13	11	5	12	0	0	1	0	1	0	0	3	2	3	1	4	1	2	2	4	1	4	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:110342897C>A	ENST00000397712.2	-	4	597	c.219G>T	c.(217-219)ggG>ggT	p.G73G	SEPT10_ENST00000545389.1_Intron|SEPT10_ENST00000437928.1_Splice_Site_p.G58G|SEPT10_ENST00000415095.1_Splice_Site_p.G73G|SEPT10_ENST00000334001.6_Intron|SEPT10_ENST00000397714.2_Splice_Site_p.G50G|SEPT10_ENST00000356688.4_Splice_Site_p.G73G	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	73	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						TTCCAGTTTCCCCTGAAACAC	0.333																																																	0													89	85	86					2																	110342897		1847	4093	5940	SO:0001630	splice_region_variant	0			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.218-1G>T	2.37:g.110342897C>A			B3KRQ9|Q86VP5|Q9HAH6	Silent	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.G73	ENST00000397712.2	37	c.219	CCDS46383.1	2																																																																																			SEPT10	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000186522		0.333	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	HGNC	protein_coding	OTTHUMT00000337804.1	-	0	17	0	C	NM_144710	Silent	110342897	-1	tier1	-	no_errors	ENST00000397712	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.998	A	A	110342897	C	A	110342897	5	1	152	1	0	0	0	0	0	0	1	0	14105	637	22	3	1177	3	SEPT10	2	110342897	Splice_Site	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	4483587	110342897	132856476	42	38647											
DDX18	8886	genome.wustl.edu	37	chr2	118572357	118572357	+	Missense_Mutation	SNP	T	T	C	0	1	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	ggcacttgttgggcagaatgTcacacctgccgatgaaactc	10	9	11	11	1	1	2	1	1	0	1	2	3	1	2	2	2	2	3	2	2	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:118572357T>C	ENST00000263239.2	+	1	132	c.4T>C	c.(4-6)Tca>Cca	p.S2P		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	2					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGGCAGAATGTCACACCTGCC	0.547											OREG0014916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													80	71	74					2																	118572357		2203	4300	6503	SO:0001583	missense	0			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.4T>C	2.37:g.118572357T>C	ENSP00000263239:p.Ser2Pro	1489	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S2P	ENST00000263239.2	37	c.4	CCDS2120.1	2	.	.	.	.	.	.	.	.	.	.	T	12.48	1.951154	0.34471	.	.	ENSG00000088205	ENST00000263239	T	0.02236	4.38	4.61	4.61	0.57282	.	1.324760	0.05335	N	0.528955	T	0.04048	0.0113	M	0.62723	1.935	0.27589	N	0.949337	P	0.42123	0.771	B	0.37943	0.261	T	0.39542	-0.9609	10	0.66056	D	0.02	-15.1881	5.4596	0.16610	0.1716:0.0:0.1787:0.6497	.	2	Q9NVP1	DDX18_HUMAN	P	2	ENSP00000263239:S2P	ENSP00000263239:S2P	S	+	1	0	DDX18	118288827	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	0.851000	0.27751	1.930000	0.55929	0.533000	0.62120	TCA	DDX18	-	NULL	ENSG00000088205		0.547	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	HGNC	protein_coding	OTTHUMT00000129632.3	-	0	81	0	T	NM_006773		118572357	1	tier1	-	no_errors	ENST00000263239	ensembl	human	known	74_37	missense	17.54	47	10	SNP	0.999	C	C	118572357	T	C	118572357	3	2	152	1	0	0	0	0	1	0	0	0	4354	1667	58	4	6	4	DDX18	2	118572357	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	8229460	118572357	124627016	43	38648											
DDX18	8886	genome.wustl.edu	37	chr2	118578815	118578816	+	Frame_Shift_Del	DEL	GT	GT	-																															gaaggcaataaaagaaatggGttttacaaacatgactgaaa																								rs376178789		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:118578815_118578816delGT	ENST00000263239.2	+	4	721_722	c.593_594delGT	c.(592-594)ggtfs	p.G198fs	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	198					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGAAATGGGTTTTACAAACA	0.337																																																	0																																										SO:0001589	frameshift_variant	0			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.593_594delGT	2.37:g.118578815_118578816delGT	ENSP00000263239:p.Gly198fs		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G198fs	ENST00000263239.2	37	c.593_594	CCDS2120.1	2																																																																																			DDX18	-	smart_Helicase_ATP-bd	ENSG00000088205		0.337	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	HGNC	protein_coding	OTTHUMT00000129632.3		0	72	0	GT	NM_006773		118578816	1	tier1		no_errors	ENST00000263239	ensembl	human	known	74_37	frame_shift_del	27.40	53	20	DEL	1.000:1.000	-	-	118578816	GT	-	118578815	7	5	152	1	0	1	0	1	0	0	0	0	4354	1261	44	0	607	0	DDX18	2	118578815	Frame_Shift_Del	DEL	GT	TCGA-RE-A7BO-01A-11D-A33E-09	6458	118578815	124620558	44	38649											
EPB41L5	57669	genome.wustl.edu	37	chr2	120861689	120861689	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaccagtggaacacaaGggccttgcccccaccccaga	12	4	10	15	0	0	1	0	0	0	1	0	3	0	3	6	3	3	0	6	3	3	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:120861689G>T	ENST00000263713.5	+	16	1551				EPB41L5_ENST00000452780.1_Intron|EPB41L5_ENST00000443902.2_Intron|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R464M|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R464M	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5						actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TGGAACACAAGGGCCTTGCCC	0.517																																																	0																																										SO:0001627	intron_variant	0			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1337+3299G>T	2.37:g.120861689G>T			Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R464M	ENST00000263713.5	37	c.1391	CCDS2130.1	2	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235688	0.58886	.	.	ENSG00000115109	ENST00000331393;ENST00000443124	D;D	0.82619	-1.63;-1.63	6.02	5.13	0.70059	.	.	.	.	.	T	0.80099	0.4561	.	.	.	0.80722	D	1	P	0.37276	0.589	B	0.41036	0.346	T	0.78819	-0.2054	8	0.42905	T	0.14	.	12.6737	0.56882	0.0761:0.0:0.9239:0.0	.	464	Q9HCM4-2	.	M	464	ENSP00000329687:R464M;ENSP00000393722:R464M	ENSP00000329687:R464M	R	+	2	0	EPB41L5	120578159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.272000	0.51616	2.857000	0.98124	0.650000	0.86243	AGG	EPB41L5	-	NULL	ENSG00000115109		0.517	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	EPB41L5	HGNC	protein_coding	OTTHUMT00000254230.2	-	0	64	0	G	NM_020909		120861689	1	tier1	-	no_errors	ENST00000331393	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	120861689	G	T	120861689	1	4	152	0	1	0	0	0	0	0	0	0	5173	1000	35	3		3	EPB41L5	2	120861689	Intron	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	2282874	120861689	122337684	45	38650											
LRP1B	53353	genome.wustl.edu	37	chr2	141739817	141739817	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcaacgcccatttccgcaAgaaaactggtctacctggca	12	8	8	13	2	1	1	0	0	1	1	2	1	2	1	3	2	4	3	3	2	5	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:141739817A>T	ENST00000389484.3	-	18	3770	c.2799T>A	c.(2797-2799)tcT>tcA	p.S933S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	933	LDL-receptor class A 5. {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)		CATTTCCGCAAGAAAACTGGT	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													116	103	107					2																	141739817		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2799T>A	2.37:g.141739817A>T			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.S933	ENST00000389484.3	37	c.2799	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	70	0	A	NM_018557		141739817	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	23.53	52	16	SNP	1.000	T	T	141739817	A	T	141739817	2	4	152	1	0	0	0	0	0	0	0	1	8990	59	3	5		5	LRP1B	2	141739817	Silent	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	20878128	141739817	101459556	46	38651											
GPD2	2820	genome.wustl.edu	37	chr2	157406233	157406233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaagaagacagaccccCagacagggaaagtgcgtgtg	13	5	13	10	1	1	4	1	0	0	4	1	5	1	5	2	1	2	1	2	1	3	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:157406233C>A	ENST00000310454.6	+	7	1147	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	GPD2_ENST00000438166.2_Missense_Mutation_p.Q259K|GPD2_ENST00000409674.1_Missense_Mutation_p.Q259K|GPD2_ENST00000409125.4_Missense_Mutation_p.Q32K|GPD2_ENST00000540309.1_Missense_Mutation_p.Q259K	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	259					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						GACAGACCCCCAGACAGGGAA	0.547																																																	0													72	68	69					2																	157406233		2203	4300	6503	SO:0001583	missense	0				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.775C>A	2.37:g.157406233C>A	ENSP00000308610:p.Gln259Lys		A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep	p.Q259K	ENST00000310454.6	37	c.775	CCDS2202.1	2	.	.	.	.	.	.	.	.	.	.	C	4.858	0.159543	0.09287	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000540309;ENST00000409674	T;T;T;T;T	0.55930	0.49;0.75;0.49;1.03;0.49	5.91	-2.61	0.06171	FAD dependent oxidoreductase (1);	0.757271	0.13588	N	0.376834	T	0.23688	0.0573	N	0.02345	-0.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21042	-1.0257	10	0.11182	T	0.66	.	15.7382	0.77863	0.24:0.1547:0.6053:0.0	.	259	P43304	GPDM_HUMAN	K	259;32;259;259;259	ENSP00000308610:Q259K;ENSP00000386484:Q32K;ENSP00000409708:Q259K;ENSP00000440892:Q259K;ENSP00000386425:Q259K	ENSP00000308610:Q259K	Q	+	1	0	GPD2	157114479	0.000000	0.05858	0.002000	0.10522	0.988000	0.76386	-0.709000	0.05030	-0.448000	0.07128	0.650000	0.86243	CAG	GPD2	-	pfam_FAD-dep_OxRdtase	ENSG00000115159		0.547	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	HGNC	protein_coding	OTTHUMT00000254910.3	-	0	67	0	C			157406233	1	tier1	-	no_errors	ENST00000310454	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	A	A	157406233	C	A	157406233	3	1	152	1	0	0	0	0	1	0	0	0	6632	595	21	3	797	3	GPD2	2	157406233	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	15666416	157406233	85793140	47	38652											
TANC1	85461	genome.wustl.edu	37	chr2	160035291	160035291	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacctgtacctcaagctCaccctggaccttttccagag	8	11	6	16	0	2	1	2	0	0	1	4	2	4	2	6	1	3	2	6	1	3	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:160035291C>A	ENST00000263635.6	+	14	2364	c.2127C>A	c.(2125-2127)ctC>ctA	p.L709L	TANC1_ENST00000454300.1_Silent_p.L603L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	709					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						ACCTCAAGCTCACCCTGGACC	0.557																																																	0													66	69	68					2																	160035291		2029	4174	6203	SO:0001819	synonymous_variant	0			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.2127C>A	2.37:g.160035291C>A			C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.L709	ENST00000263635.6	37	c.2127	CCDS42766.1	2																																																																																			TANC1	-	NULL	ENSG00000115183		0.557	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1		0	74	0	C			160035291	1			no_errors	ENST00000263635	ensembl	human	known	74_37	silent	6.15	61	4	SNP	1.000	A	A	160035291	C	A	160035291	2	1	152	1	0	0	0	0	0	0	0	1	15591	813	29	3		3	TANC1	2	160035291	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	2629058	160035291	83164082	48	38653											
PLA2R1	22925	genome.wustl.edu	37	chr2	160806227	160806227	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaaggagggaggactcctCatctttccaaaaagtgaaag	15	7	10	9	0	2	1	1	1	1	0	4	4	4	4	3	3	0	0	3	3	4	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:160806227C>G	ENST00000283243.7	-	25	3807	c.3601G>C	c.(3601-3603)Gag>Cag	p.E1201Q	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E1201Q	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1201	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						GAGGACTCCTCATCTTTCCAA	0.488																																																	0													95	90	92					2																	160806227		2203	4300	6503	SO:0001583	missense	0			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.3601G>C	2.37:g.160806227C>G	ENSP00000283243:p.Glu1201Gln		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.E1201Q	ENST00000283243.7	37	c.3601	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379579	0.61845	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.54866	0.55;0.55	5.8	5.8	0.92144	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.233245	0.36268	N	0.002697	T	0.56819	0.2011	L	0.55103	1.725	0.38796	D	0.955099	B;P;P	0.37663	0.146;0.604;0.549	B;B;P	0.46049	0.35;0.433;0.502	T	0.58031	-0.7708	10	0.41790	T	0.15	.	13.2885	0.60258	0.0:0.928:0.0:0.072	.	1201;1201;1201	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	Q	1201	ENSP00000283243:E1201Q;ENSP00000376524:E1201Q	ENSP00000283243:E1201Q	E	-	1	0	PLA2R1	160514473	0.994000	0.37717	0.746000	0.31095	0.501000	0.33797	3.331000	0.52075	2.744000	0.94065	0.655000	0.94253	GAG	PLA2R1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000153246		0.488	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	-	0	91	0	C			160806227	-1	tier1	-	no_errors	ENST00000283243	ensembl	human	known	74_37	missense	34.38	42	22	SNP	0.995	G	G	160806227	C	G	160806227	3	3	152	1	0	0	0	0	1	0	0	0	12049	835	29	5	822	5	PLA2R1	2	160806227	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	770936	160806227	82393146	49	38654											
SCN9A	6335	genome.wustl.edu	37	chr2	167085307	167085307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagggcaaaacattcggaaCgatttggaacttgacttgca	14	10	10	7	2	0	1	0	1	0	0	1	4	0	3	0	3	4	2	0	3	5	5	rs200566017		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:167085307C>A	ENST00000409435.1	-	21	4099	c.4100G>T	c.(4099-4101)cGt>cTt	p.R1367L	SCN9A_ENST00000375387.4_Missense_Mutation_p.R1368L|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1368L|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1356L|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1367					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.R1356H(1)|p.R1356L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATTCGGAACGATTTGGAAC	0.398																																																	2	Substitution - Missense(2)	lung(1)|prostate(1)											230	231	231					2																	167085307		2007	4200	6207	SO:0001583	missense	0			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.4100G>T	2.37:g.167085307C>A	ENSP00000386330:p.Arg1367Leu		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R1368L	ENST00000409435.1	37	c.4103	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866532	0.32977	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.95949	-3.83;-3.86;-3.86;-3.86	5.23	-0.341	0.12639	.	1.282520	0.05251	N	0.514045	D	0.91865	0.7425	L	0.52206	1.635	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.78773	-0.2073	10	0.27082	T	0.32	.	4.0104	0.09619	0.1811:0.2568:0.0:0.5621	.	1356	E7EUN6	.	L	1356;1368;1368;1367	ENSP00000386306:R1356L;ENSP00000364536:R1368L;ENSP00000304748:R1368L;ENSP00000386330:R1367L	ENSP00000304748:R1368L	R	-	2	0	SCN9A	166793553	0.002000	0.14202	0.001000	0.08648	0.727000	0.41649	1.311000	0.33562	0.233000	0.21120	0.557000	0.71058	CGT	SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0	109	0	C	NM_002977		167085307	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	20.83	76	20	SNP	0.003	A	A	167085307	C	A	167085307	3	1	152	1	0	0	0	0	1	0	0	0	13970	536	19	2	1890	2	SCN9A	2	167085307	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	6279080	167085307	76114066	50	38655											
SCN9A	6335	genome.wustl.edu	37	chr2	167129052	167129052	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatcactgtcttccatcaAgtgtttgtccacgctgcttc	7	14	6	14	1	3	0	2	0	1	0	6	0	5	0	3	0	1	3	3	0	1	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:167129052A>C	ENST00000409435.1	-	16	3207	c.3208T>G	c.(3208-3210)Ttg>Gtg	p.L1070V	SCN9A_ENST00000375387.4_Missense_Mutation_p.L1071V|SCN9A_ENST00000303354.6_Missense_Mutation_p.L1071V|SCN9A_ENST00000409672.1_Missense_Mutation_p.L1059V|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1070					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)	TCTTCCATCAAGTGTTTGTCC	0.408																																																	0													121	116	117					2																	167129052		1941	4144	6085	SO:0001583	missense	0			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.3208T>G	2.37:g.167129052A>C	ENSP00000386330:p.Leu1070Val		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.L1071V	ENST00000409435.1	37	c.3211	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	A	0.904	-0.721365	0.03182	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.42	-0.798	0.10905	.	0.625784	0.13552	N	0.379397	T	0.52661	0.1748	N	0.04880	-0.145	0.20703	N	0.999869	B	0.02656	0.0	B	0.11329	0.006	T	0.46373	-0.9196	10	0.02654	T	1	.	0.3572	0.00358	0.3664:0.1331:0.1725:0.328	.	1059	E7EUN6	.	V	1059;1071;1071;1070	ENSP00000386306:L1059V;ENSP00000364536:L1071V;ENSP00000304748:L1071V;ENSP00000386330:L1070V	ENSP00000304748:L1071V	L	-	1	2	SCN9A	166837298	0.153000	0.22777	0.965000	0.40720	0.757000	0.42996	0.231000	0.17872	0.093000	0.17368	0.533000	0.62120	TTG	SCN9A	-	pfam_Na_trans_assoc	ENSG00000169432		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0	112	0	A	NM_002977		167129052	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	30.43	64	28	SNP	0.797	C	C	167129052	A	C	167129052	3	2	152	1	0	0	0	0	1	0	0	0	13970	69	3	4	2802	4	SCN9A	2	167129052	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	43745	167129052	76070321	51	38656											
XIRP2	129446	genome.wustl.edu	37	chr2	168115487	168115487	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttatggtaaaggggggaAgttcaatcatctctcctgat	10	12	11	8	0	3	1	2	1	1	0	5	2	4	2	2	4	0	2	2	4	5	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:168115487A>C	ENST00000409728.1	+	11	2619	c.2530A>C	c.(2530-2532)Agt>Cgt	p.S844R	XIRP2_ENST00000409605.1_Missense_Mutation_p.S589R|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.S811R|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.S811R|XIRP2_ENST00000420519.1_Missense_Mutation_p.S844R|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAGGGGGGAAGTTCAATCAT	0.433																																																	0													29	28	28					2																	168115487		1843	4101	5944	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2530A>C	2.37:g.168115487A>C	ENSP00000386619:p.Ser844Arg		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S844R	ENST00000409728.1	37	c.2530	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	A	3.723	-0.057234	0.07317	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.67	3.14	0.36123	.	.	.	.	.	T	0.66237	0.2769	.	.	.	0.20307	N	0.999911	B;B	0.10296	0.001;0.003	B;B	0.09377	0.004;0.004	T	0.57075	-0.7873	8	0.62326	D	0.03	.	5.7167	0.17964	0.7681:0.0:0.0883:0.1437	.	811;844	A4UGR9-4;A4UGR9-6	.;.	R	811;844;811;844;589	ENSP00000386454:S811R;ENSP00000386619:S844R;ENSP00000386724:S811R;ENSP00000415541:S844R;ENSP00000386981:S589R	ENSP00000386454:S811R	S	+	1	0	XIRP2	167823733	0.022000	0.18835	0.004000	0.12327	0.027000	0.11550	2.297000	0.43593	0.344000	0.23847	0.459000	0.35465	AGT	XIRP2	-	NULL	ENSG00000163092		0.433	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	-	0	81	0	A	NM_152381		168115487	1	tier1	-	no_errors	ENST00000420519	ensembl	human	known	74_37	missense	44.93	38	31	SNP	0.018	C	C	168115487	A	C	168115487	3	2	152	1	0	0	0	0	1	0	0	0	17479	72	3	4	11848	4	XIRP2	2	168115487	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	986435	168115487	75083886	52	38657											
XIRP2	129446	genome.wustl.edu	37	chr2	168115550	168115550	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagccattcaaagagcaaaAatttacactttttcttttct	14	15	4	8	0	3	1	1	0	2	1	3	2	3	1	1	0	3	1	1	0	5	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:168115550A>C	ENST00000409728.1	+	11	2682	c.2593A>C	c.(2593-2595)Aat>Cat	p.N865H	XIRP2_ENST00000409605.1_Missense_Mutation_p.N610H|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.N832H|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.N832H|XIRP2_ENST00000420519.1_Missense_Mutation_p.N865H|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAGAGCAAAAATTTACACTT	0.343																																																	0													26	26	26					2																	168115550		1816	4077	5893	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2593A>C	2.37:g.168115550A>C	ENSP00000386619:p.Asn865His		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.N865H	ENST00000409728.1	37	c.2593	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	A	11.39	1.626049	0.28978	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.79352	-1.25;-1.25;-1.25;-1.25;-1.26	5.67	4.5	0.54988	.	.	.	.	.	T	0.71550	0.3353	.	.	.	0.80722	D	1	B;B	0.24368	0.102;0.102	B;B	0.24155	0.051;0.051	T	0.68667	-0.5348	8	0.72032	D	0.01	.	11.6646	0.51366	0.8517:0.1483:0.0:0.0	.	832;865	A4UGR9-4;A4UGR9-6	.;.	H	832;865;832;865;610	ENSP00000386454:N832H;ENSP00000386619:N865H;ENSP00000386724:N832H;ENSP00000415541:N865H;ENSP00000386981:N610H	ENSP00000386454:N832H	N	+	1	0	XIRP2	167823796	0.992000	0.36948	0.433000	0.26760	0.240000	0.25518	2.940000	0.49003	0.961000	0.38030	-0.466000	0.05196	AAT	XIRP2	-	NULL	ENSG00000163092		0.343	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	-	0	148	0	A	NM_152381		168115550	1	tier1	-	no_errors	ENST00000420519	ensembl	human	known	74_37	missense	15.13	101	18	SNP	0.916	C	C	168115550	A	C	168115550	3	2	152	1	0	0	0	0	1	0	0	0	17479	14	1	4	11911	4	XIRP2	2	168115550	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	63	168115550	75083823	53	38658											
ZAK	51776	genome.wustl.edu	37	chr2	173955912	173955912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagctcctcaaaatagaGaaagaggtaaggtcttttcc	16	9	9	7	0	2	3	1	0	1	3	4	4	4	3	2	2	1	2	2	2	7	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:173955912G>T	ENST00000375213.3	+	2	231	c.153G>T	c.(151-153)gaG>gaT	p.E51D	MLTK_ENST00000539448.1_Missense_Mutation_p.E51D|MLTK_ENST00000338983.3_Missense_Mutation_p.E51D|MLTK_ENST00000409176.2_Missense_Mutation_p.E51D|MLTK_ENST00000431503.2_Intron	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		51	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)										TCAAAATAGAGAAAGAGGTAA	0.443																																																	0													68	68	68					2																	173955912		2203	4300	6503	SO:0001583	missense	0																														ENST00000375213.3:c.153G>T	2.37:g.173955912G>T	ENSP00000364361:p.Glu51Asp		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E51D	ENST00000375213.3	37	c.153	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097873	0.76870	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000375213;ENST00000422149	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045211	0.85682	D	0.000000	D	0.85517	0.5715	L	0.41710	1.295	0.80722	D	1	B;P;B;D	0.67145	0.233;0.924;0.275;0.996	B;P;B;D	0.76071	0.065;0.52;0.107;0.987	D	0.83724	0.0194	10	0.37606	T	0.19	.	9.9216	0.41468	0.1555:0.0:0.8445:0.0	.	51;51;51;51	Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;MLTK_HUMAN;.;.	D	51	ENSP00000439414:E51D;ENSP00000387259:E51D;ENSP00000340257:E51D;ENSP00000364361:E51D;ENSP00000411923:E51D	ENSP00000340257:E51D	E	+	3	2	AC013461.1	173664158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.604000	0.54081	2.675000	0.91044	0.655000	0.94253	GAG	MLTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000091436		0.443	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_gn	protein_coding	OTTHUMT00000255401.1	-	0	82	0	G			173955912	1	tier1	-	no_errors	ENST00000375213	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	173955912	G	T	173955912	3	4	152	1	0	0	0	0	1	0	0	0	17561	933	33	3	155	3	ZAK	2	173955912	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	5840362	173955912	69243461	54	38659											
TTN	7273	genome.wustl.edu	37	chr2	179439329	179439329	+	Missense_Mutation	SNP	T	T	G	0	1	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	tggctcatgccagctaattgTcattgaatccttggtaactg	9	14	9	9	0	2	1	2	1	0	0	3	1	3	1	2	2	3	3	2	2	3	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:179439329T>G	ENST00000591111.1	-	276	66831	c.66607A>C	c.(66607-66609)Aca>Cca	p.T22203P	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T14971P|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T23844P|TTN_ENST00000342992.6_Missense_Mutation_p.T21276P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T14904P|TTN_ENST00000460472.2_Missense_Mutation_p.T14779P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22203	Fibronectin type-III 61. {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)			CAGCTAATTGTCATTGAATCC	0.453																																																	0													101	95	97					2																	179439329		1900	4134	6034	SO:0001583	missense	0			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.66607A>C	2.37:g.179439329T>G	ENSP00000465570:p.Thr22203Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T21276P	ENST00000591111.1	37	c.63826		2	.	.	.	.	.	.	.	.	.	.	T	9.883	1.202075	0.22121	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.7	5.7	0.88788	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77903	0.4200	M	0.93283	3.4	0.45962	D	0.998781	D;D;D;D	0.54397	0.966;0.966;0.966;0.966	P;P;P;P	0.57679	0.69;0.69;0.825;0.825	D	0.83606	0.0131	9	0.87932	D	0	.	11.8693	0.52511	0.0:0.0703:0.0:0.9297	.	14779;14904;14971;22203	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	21276;14779;14971;14904;14777	ENSP00000343764:T21276P;ENSP00000434586:T14779P;ENSP00000340554:T14971P;ENSP00000352154:T14904P	ENSP00000340554:T14971P	T	-	1	0	TTN	179147575	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.244000	0.58728	2.179000	0.69175	0.528000	0.53228	ACA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	73	0	T	NM_133378		179439329	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	32.35	45	22	SNP	1.000	G	G	179439329	T	G	179439329	3	3	152	1	0	0	0	0	1	0	0	0	16784	1667	58	4	36597	4	TTN	2	179439329	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	5483417	179439329	63760044	55	38660											
TTN	7273	genome.wustl.edu	37	chr2	179442443	179442443	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaccctcaacaaggtcagTtacagtaaaggcacattctg	13	9	7	12	0	3	0	2	0	1	0	4	0	4	0	2	2	2	3	2	2	5	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:179442443T>G	ENST00000591111.1	-	273	64011	c.63787A>C	c.(63787-63789)Act>Cct	p.T21263P	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T14031P|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T22904P|TTN_ENST00000342992.6_Missense_Mutation_p.T20336P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T13964P|TTN_ENST00000460472.2_Missense_Mutation_p.T13839P|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21263	Fibronectin type-III 54. {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)			ACAAGGTCAGTTACAGTAAAG	0.393																																																	0													163	146	152					2																	179442443		1933	4129	6062	SO:0001583	missense	0			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.63787A>C	2.37:g.179442443T>G	ENSP00000465570:p.Thr21263Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T20336P	ENST00000591111.1	37	c.61006		2	.	.	.	.	.	.	.	.	.	.	T	12.52	1.961275	0.34565	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.68	5.68	0.88126	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63094	0.2482	M	0.78344	2.41	0.46061	D	0.998841	B;B;B;B	0.20550	0.046;0.046;0.046;0.046	B;B;B;B	0.26094	0.066;0.066;0.066;0.066	T	0.64028	-0.6503	9	0.87932	D	0	.	15.9266	0.79621	0.0:0.0:0.0:1.0	.	13839;13964;14031;21263	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	20336;13839;14031;13964;13837	ENSP00000343764:T20336P;ENSP00000434586:T13839P;ENSP00000340554:T14031P;ENSP00000352154:T13964P	ENSP00000340554:T14031P	T	-	1	0	TTN	179150689	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.259000	0.72494	2.179000	0.69175	0.477000	0.44152	ACT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	34	0	T	NM_133378		179442443	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	G	G	179442443	T	G	179442443	3	3	152	1	0	0	0	0	1	0	0	0	16784	1725	60	4	39429	4	TTN	2	179442443	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	3114	179442443	63756930	56	38661											
TTN	7273	genome.wustl.edu	37	chr2	179590564	179590564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgcagtggtattcacCgatgtctgaagtgtccacat	8	14	10	9	1	2	1	1	1	1	0	3	2	3	1	2	1	2	3	2	1	2	3	rs139549363		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:179590564C>A	ENST00000591111.1	-	68	19758	c.19534G>T	c.(19534-19536)Ggt>Tgt	p.G6512C	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.G6829C|TTN_ENST00000342992.6_Missense_Mutation_p.G5585C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12113	Ig-like 46.				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)			TGGTATTCACCGATGTCTGAA	0.393																																																	0													166	156	159					2																	179590564		1884	4145	6029	SO:0001583	missense	0			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.19534G>T	2.37:g.179590564C>A	ENSP00000465570:p.Gly6512Cys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G5585C	ENST00000591111.1	37	c.16753		2	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805956	0.50421	.	.	ENSG00000155657	ENST00000342992	T	0.81415	-1.49	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95092	0.8410	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96531	0.9393	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	6512	Q8WZ42	TITIN_HUMAN	C	5585	ENSP00000343764:G5585C	ENSP00000343764:G5585C	G	-	1	0	TTN	179298809	1.000000	0.71417	0.982000	0.44146	0.979000	0.70002	7.668000	0.83897	2.941000	0.99782	0.655000	0.94253	GGT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	70	0	C	NM_133378		179590564	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	A	A	179590564	C	A	179590564	3	1	152	1	0	0	0	0	1	0	0	0	16784	652	23	2	84216	2	TTN	2	179590564	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	148121	179590564	63608809	57	38662											
TTN	7273	genome.wustl.edu	37	chr2	179598063	179598063	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagctcagctgaataaaaTttgagctgggcaacattgtt	12	12	10	7	0	1	2	1	2	0	0	1	2	1	2	0	1	5	6	0	1	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:179598063T>G	ENST00000591111.1	-	52	15230	c.15006A>C	c.(15004-15006)aaA>aaC	p.K5002N	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K5319N|TTN_ENST00000342992.6_Missense_Mutation_p.K4075N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12381	Ig-like 30.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAATAAAATTTGAGCTGGG	0.438																																																	0													89	86	87					2																	179598063		1837	4097	5934	SO:0001583	missense	0			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.15006A>C	2.37:g.179598063T>G	ENSP00000465570:p.Lys5002Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K4075N	ENST00000591111.1	37	c.12225		2	.	.	.	.	.	.	.	.	.	.	T	11.51	1.660294	0.29515	.	.	ENSG00000155657	ENST00000342992	T	0.67523	-0.27	5.86	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76898	0.4052	M	0.71296	2.17	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.75997	-0.3120	9	0.87932	D	0	.	8.9554	0.35814	0.0:0.3561:0.0:0.6439	.	5002	Q8WZ42	TITIN_HUMAN	N	4075	ENSP00000343764:K4075N	ENSP00000343764:K4075N	K	-	3	2	TTN	179306308	0.995000	0.38212	1.000000	0.80357	0.972000	0.66771	0.318000	0.19504	0.464000	0.27142	0.533000	0.62120	AAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	75	0	T	NM_133378		179598063	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	G	G	179598063	T	G	179598063	3	3	152	1	0	0	0	0	1	0	0	0	16784	1490	52	4	88808	4	TTN	2	179598063	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	7499	179598063	63601310	58	38663											
TTN	7273	genome.wustl.edu	37	chr2	179599578	179599578	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacattcggactgtgttacTttcactgagttctttgttat	8	19	7	7	1	2	1	1	1	1	0	3	2	2	2	0	1	2	3	0	1	3	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:179599578T>G	ENST00000591111.1	-	49	14346	c.14122A>C	c.(14122-14124)Agt>Cgt	p.S4708R	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S5025R|TTN_ENST00000342992.6_Missense_Mutation_p.S3781R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12088	Ig-like 27.				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)			ACTGTGTTACTTTCACTGAGT	0.403																																																	0													87	82	83					2																	179599578		1869	4100	5969	SO:0001583	missense	0			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.14122A>C	2.37:g.179599578T>G	ENSP00000465570:p.Ser4708Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S3781R	ENST00000591111.1	37	c.11341		2	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728568	0.30593	.	.	ENSG00000155657	ENST00000342992	T	0.49432	0.78	5.89	5.89	0.94794	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66127	0.2758	M	0.68728	2.09	0.80722	D	1	D	0.64830	0.994	D	0.63703	0.917	T	0.69316	-0.5177	9	0.87932	D	0	.	16.3127	0.82898	0.0:0.0:0.0:1.0	.	4708	Q8WZ42	TITIN_HUMAN	R	3781	ENSP00000343764:S3781R	ENSP00000343764:S3781R	S	-	1	0	TTN	179307823	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.869000	0.56062	2.246000	0.74042	0.533000	0.62120	AGT	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	55	0	T	NM_133378		179599578	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	33.33	40	20	SNP	1.000	G	G	179599578	T	G	179599578	3	3	152	1	0	0	0	0	1	0	0	0	16784	1609	56	4	89704	4	TTN	2	179599578	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	1515	179599578	63599795	59	38664											
SSFA2	6744	genome.wustl.edu	37	chr2	182786988	182786988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccagatttggaaagttCtgaggaagttgatgcagctg	11	11	12	7	0	1	3	0	2	1	1	2	5	2	5	2	2	2	4	2	2	2	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:182786988C>A	ENST00000431877.2	+	16	3703	c.3524C>A	c.(3523-3525)tCt>tAt	p.S1175Y	SSFA2_ENST00000409001.1_Missense_Mutation_p.S1153Y|SSFA2_ENST00000409136.1_Missense_Mutation_p.S684Y|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000320370.7_Missense_Mutation_p.S1175Y|SSFA2_ENST00000428267.2_Missense_Mutation_p.S1000Y	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1175						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)			TTGGAAAGTTCTGAGGAAGTT	0.502																																																	0													92	98	96					2																	182786988		2203	4300	6503	SO:0001583	missense	0			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.3524C>A	2.37:g.182786988C>A	ENSP00000388731:p.Ser1175Tyr		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.S1175Y	ENST00000431877.2	37	c.3524	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770760	0.69992	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136;ENST00000451836	T;T;T;T;T	0.17528	2.54;2.27;2.53;2.53;2.32	5.95	5.08	0.68730	.	0.492809	0.22879	N	0.054539	T	0.42154	0.1190	M	0.70595	2.14	0.35988	D	0.836509	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.996;0.996;0.996	T	0.54846	-0.8232	10	0.59425	D	0.04	-6.0904	15.135	0.72558	0.1416:0.8584:0.0:0.0	.	1000;684;1153;1175;1175	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	Y	1175;1175;1153;1000;684;120	ENSP00000388731:S1175Y;ENSP00000314669:S1175Y;ENSP00000387319:S1153Y;ENSP00000409867:S1000Y;ENSP00000386916:S684Y	ENSP00000314669:S1175Y	S	+	2	0	SSFA2	182495233	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	0.997000	0.29731	1.542000	0.49330	-0.122000	0.15005	TCT	SSFA2	-	NULL	ENSG00000138434		0.502	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	-	0	65	0	C	NM_006751		182786988	1	tier1	-	no_errors	ENST00000431877	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A	A	182786988	C	A	182786988	3	1	152	1	0	0	0	0	1	0	0	0	15230	913	32	3	3586	3	SSFA2	2	182786988	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	3187410	182786988	60412385	60	38665											
SLC11A1	6556	genome.wustl.edu	37	chr2	219255998	219255998	+	Silent	SNP	C	C	T	0	0	0	1	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	aacgccaccgtggccgtggaCatttaccagggggtgagcgc	8	6	15	12	4	0	1	0	1	0	0	0	2	0	2	4	4	3	0	4	4	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:219255998C>T	ENST00000233202.6	+	10	1372	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	SLC11A1_ENST00000539932.1_Silent_p.D226D	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	344					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCGTGGACATTTACCAGG	0.642																																																	0													62	53	56					2																	219255998		2203	4300	6503	SO:0001819	synonymous_variant	0			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1032C>T	2.37:g.219255998C>T			C0H5Y3	Silent	SNP	pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like	p.D344	ENST00000233202.6	37	c.1032	CCDS2415.1	2																																																																																			SLC11A1	-	pfam_NRAMP-like,tigrfam_NRAMP-like	ENSG00000018280		0.642	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC11A1	HGNC	protein_coding	OTTHUMT00000195076.2	-	0	87	0	C	NM_000578		219255998	1	tier1	-	no_errors	ENST00000233202	ensembl	human	known	74_37	silent	37.04	68	40	SNP	1.000	T	T	219255998	C	T	219255998	2	4	152	1	0	0	0	0	0	0	0	1	14425	477	17	3		3	SLC11A1	2	219255998	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	36469010	219255998	23943375	61	38666											
STK36	27148	genome.wustl.edu	37	chr2	219563818	219563818	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgcagcctaccaggctgGtcctctgggacctgccctgg	6	8	12	15	0	1	0	0	0	1	0	2	1	2	1	5	4	4	2	5	4	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:219563818G>C	ENST00000295709.3	+	26	3830	c.3551G>C	c.(3550-3552)gGt>gCt	p.G1184A	STK36_ENST00000440309.1_Missense_Mutation_p.G1184A|STK36_ENST00000392106.2_Missense_Mutation_p.G1163A|STK36_ENST00000392105.3_Missense_Mutation_p.G1163A	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TACCAGGCTGGTCCTCTGGGA	0.607																																																	0													44	43	43					2																	219563818		2203	4300	6503	SO:0001583	missense	0			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3551G>C	2.37:g.219563818G>C	ENSP00000295709:p.Gly1184Ala			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G1184A	ENST00000295709.3	37	c.3551	CCDS2421.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.303700|2.303700	0.40795|0.40795	.|.	.|.	ENSG00000163482|ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309|ENST00000431040	T;T;T;T|.	0.64085|.	0.79;0.79;-0.08;0.79|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.46442|.	D|.	0.000296|.	T|T	0.55529|0.55529	0.1926|0.1926	N|N	0.25789|0.25789	0.76|0.76	0.37377|0.37377	D|D	0.911863|0.911863	D;D;P|.	0.63046|.	0.992;0.99;0.816|.	P;P;B|.	0.58077|.	0.832;0.797;0.1|.	T|T	0.55186|0.55186	-0.8180|-0.8180	10|5	0.31617|.	T|.	0.26|.	-13.1079|-13.1079	17.5023|17.5023	0.87735|0.87735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1163;1163;1184|.	A8MU99;Q9NRP7-2;Q9NRP7|.	.;.;STK36_HUMAN|.	A|L	1184;1163;1163;1184|377	ENSP00000295709:G1184A;ENSP00000375955:G1163A;ENSP00000375954:G1163A;ENSP00000394095:G1184A|.	ENSP00000295709:G1184A|.	G|V	+|+	2|1	0|0	STK36|STK36	219272062|219272062	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.182000|0.182000	0.23217|0.23217	3.253000|3.253000	0.51469|0.51469	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGT|GTC	STK36	-	superfamily_ARM-type_fold	ENSG00000163482		0.607	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	HGNC	protein_coding	OTTHUMT00000256723.2	-	0	21	0	G			219563818	1	tier1	-	no_errors	ENST00000295709	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	C	C	219563818	G	C	219563818	3	2	152	1	0	0	0	0	1	0	0	0	15349	1261	44	5	3649	5	STK36	2	219563818	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	307820	219563818	23635555	62	38667											
MOGAT1	116255	genome.wustl.edu	37	chr2	223554148	223554148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcacgtgctgccactttgGttctggtgtcctgtctttcg	2	17	10	12	2	3	0	1	0	2	0	5	0	4	0	2	2	2	2	2	2	0	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:223554148G>T	ENST00000446656.3	+	3	438	c.438G>T	c.(436-438)tgG>tgT	p.W146C		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	146					diacylglycerol biosynthetic process (GO:0006651)|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)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TGCCACTTTGGTTCTGGTGTC	0.443																																					Ovarian(93;205 1446 2385 11581 25911)												0													190	174	179					2																	223554148		1967	4152	6119	SO:0001583	missense	0			AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"diacylglycerol O-acyltransferase 2 like 1"	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.438G>T	2.37:g.223554148G>T	ENSP00000406674:p.Trp146Cys		Q6IEE5	Missense_Mutation	SNP	pfam_DAGAT	p.W146C	ENST00000446656.3	37	c.438	CCDS46524.1	2	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712808	0.30413	.	.	ENSG00000124003	ENST00000446656	T	0.13420	2.59	5.34	4.45	0.53987	.	0.167182	0.43919	D	0.000506	T	0.22360	0.0539	M	0.69823	2.125	0.80722	D	1	B	0.21309	0.054	B	0.32211	0.142	T	0.03384	-1.1042	10	0.38643	T	0.18	-4.1398	16.1276	0.81406	0.0:0.1337:0.8663:0.0	.	146	Q96PD6	MOGT1_HUMAN	C	146	ENSP00000406674:W146C	ENSP00000406674:W146C	W	+	3	0	MOGAT1	223262392	1.000000	0.71417	0.534000	0.28014	0.019000	0.09904	9.125000	0.94402	1.470000	0.48102	0.655000	0.94253	TGG	MOGAT1	-	pfam_DAGAT	ENSG00000124003		0.443	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT1	HGNC	protein_coding	OTTHUMT00000331010.3		0	37	0	G	NM_058165		223554148	1			no_errors	ENST00000446656	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	223554148	G	T	223554148	3	4	152	1	0	0	0	0	1	0	0	0	9732	1270	44	3	448	3	MOGAT1	2	223554148	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	3990330	223554148	19645225	63	38668											
COL6A3	1293	genome.wustl.edu	37	chr2	238285729	238285729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctgtgcatagtccagcGcgtagcccaggttgagggct	7	9	13	12	2	1	1	0	1	1	0	2	1	2	1	3	2	3	4	3	2	2	3	rs115327470		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr2:238285729G>A	ENST00000295550.4	-	7	3208	c.2756C>T	c.(2755-2757)gCg>gTg	p.A919V	COL6A3_ENST00000346358.4_Missense_Mutation_p.A719V|COL6A3_ENST00000392003.2_Missense_Mutation_p.A512V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A713V|COL6A3_ENST00000392004.3_Missense_Mutation_p.A713V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A312V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A713V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A718V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	919	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATAGTCCAGCGCGTAGCCCAG	0.532													G|||	1	0.000199681	0	0	5008	,	,		22769	0.001		0	False		,,,				2504	0																0													83	72	76					2																	238285729		2203	4300	6503	SO:0001583	missense	0			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.2756C>T	2.37:g.238285729G>A	ENSP00000295550:p.Ala919Val		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.A919V	ENST00000295550.4	37	c.2756	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556095	0.86231	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.7	5.7	0.88788	von Willebrand factor, type A (3);	0.000000	0.52532	D	0.000065	D	0.96426	0.8834	M	0.90019	3.08	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.978;1.0;0.998;1.0;0.999;0.968	D	0.96293	0.9215	10	0.56958	D	0.05	.	19.8351	0.96655	0.0:0.0:1.0:0.0	.	719;312;512;713;713;919	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	V	919;718;713;312;713;719;713;512	ENSP00000295550:A919V;ENSP00000315609:A718V;ENSP00000315873:A713V;ENSP00000418285:A312V;ENSP00000386844:A713V;ENSP00000295546:A719V;ENSP00000375861:A713V;ENSP00000375860:A512V	ENSP00000295550:A919V	A	-	2	0	COL6A3	237950468	1.000000	0.71417	0.603000	0.28903	0.655000	0.38815	9.644000	0.98468	2.687000	0.91594	0.655000	0.94253	GCG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.532	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	57	0	G	NM_004369		238285729	-1	tier1	rs115327470	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.960	A	A	238285729	G	A	238285729	3	1	152	1	0	0	0	0	1	0	0	0	3708	1087	38	1	6976	1	COL6A3	2	238285729	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	14731581	238285729	4913644	64	38669											
CNTN4	152330	genome.wustl.edu	37	chr3	2777926	2777926	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacactgcatggcccgatttTtattcaagaaccaagtcctg	11	11	7	12	1	1	1	1	0	0	1	2	2	2	1	3	1	2	1	3	1	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:2777926T>G	ENST00000397461.1	+	4	467	c.83T>G	c.(82-84)tTt>tGt	p.F28C	CNTN4_ENST00000427331.1_Missense_Mutation_p.F28C|CNTN4_ENST00000418658.1_Missense_Mutation_p.F28C	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	28					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)		GGCCCGATTTTTATTCAAGAA	0.378																																																	0													174	165	168					3																	2777926		1828	4080	5908	SO:0001583	missense	0			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.83T>G	3.37:g.2777926T>G	ENSP00000380602:p.Phe28Cys		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.F28C	ENST00000397461.1	37	c.83	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554019	0.86231	.	.	ENSG00000144619	ENST00000422330;ENST00000455083;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	6.07	6.07	0.98685	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.84499	0.0615	10	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	28;28	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	C	28;28;28;28;46;28	ENSP00000408594:F28C;ENSP00000396010:F28C;ENSP00000380602:F28C;ENSP00000404085:F46C;ENSP00000413642:F28C	ENSP00000380602:F28C	F	+	2	0	CNTN4	2752926	1.000000	0.71417	0.086000	0.20670	0.976000	0.68499	6.662000	0.74426	2.326000	0.78906	0.533000	0.62120	TTT	CNTN4	-	NULL	ENSG00000144619		0.378	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	-	0	131	0	T			2777926	1	tier1	-	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	20.21	75	19	SNP	0.995	G	G	2777926	T	G	2777926	3	3	152	1	0	0	0	0	1	0	0	0	3650	1841	64	4	89	4	CNTN4	3	2777926	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09		2777926	195244504	65	38670											
DCLK3	85443	genome.wustl.edu	37	chr3	36779076	36779076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatccccaatgacccggcCagtctcataatgcttttcca	9	10	5	17	1	1	1	1	1	1	0	4	1	3	1	6	1	1	1	6	1	2	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:36779076C>A	ENST00000416516.2	-	2	1565	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					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						ATGACCCGGCCAGTCTCATAA	0.572																																																	0													83	82	82					3																	36779076		2080	4223	6303	SO:0001583	missense	0			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.1075G>T	3.37:g.36779076C>A	ENSP00000394484:p.Gly359Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G359C	ENST00000416516.2	37	c.1075	CCDS43064.1	3	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437147	0.62955	.	.	ENSG00000163673	ENST00000416516	T	0.42131	0.98	5.64	5.64	0.86602	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	0.33438	N	0.004913	T	0.69233	0.3088	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71692	-0.4516	10	0.87932	D	0	.	20.0957	0.97842	0.0:1.0:0.0:0.0	.	359	Q9C098	DCLK3_HUMAN	C	359	ENSP00000394484:G359C	ENSP00000394484:G359C	G	-	1	0	DCLK3	36754080	1.000000	0.71417	0.918000	0.36340	0.077000	0.17291	6.017000	0.70805	2.837000	0.97791	0.655000	0.94253	GGC	DCLK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000163673		0.572	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1	-	0	63	0	C	XM_047355		36779076	-1	tier1	-	no_errors	ENST00000416516	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	A	A	36779076	C	A	36779076	3	1	152	1	0	0	0	0	1	0	0	0	4302	594	21	3	887	3	DCLK3	3	36779076	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	34001150	36779076	161243354	66	38671											
ITGA9	3680	genome.wustl.edu	37	chr3	37792003	37792003	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtcatctgtcagcatctcTttccctaatcgactctcatc	7	14	6	14	1	5	0	3	0	3	0	10	1	6	0	1	1	1	1	1	1	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:37792003T>C	ENST00000264741.5	+	23	2740	c.2484T>C	c.(2482-2484)tcT>tcC	p.S828S	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	828					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)		TCAGCATCTCTTTCCCTAATC	0.483																																																	0													190	164	173					3																	37792003		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2484T>C	3.37:g.37792003T>C			Q14638	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S828	ENST00000264741.5	37	c.2484	CCDS2669.1	3																																																																																			ITGA9	-	pfam_Integrin_alpha-2	ENSG00000144668		0.483	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	-	0	90	0	T	NM_002207		37792003	1	tier1	-	no_errors	ENST00000264741	ensembl	human	known	74_37	silent	18.75	51	12	SNP	0.030	C	C	37792003	T	C	37792003	2	2	152	1	0	0	0	0	0	0	0	1	7910	1596	56	4		4	ITGA9	3	37792003	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	1012927	37792003	160230427	67	38672											
SCN10A	6336	genome.wustl.edu	37	chr3	38748813	38748813	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggcttcttggagcccaacTtcttcatggcattgtagtat	7	14	11	9	0	3	0	1	0	2	0	3	1	3	1	1	4	2	4	1	4	3	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:38748813T>G	ENST00000449082.2	-	25	4342	c.4343A>C	c.(4342-4344)aAg>aCg	p.K1448T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1448					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)	GGAGCCCAACTTCTTCATGGC	0.532																																																	0													138	144	142					3																	38748813		2203	4300	6503	SO:0001583	missense	0			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.4343A>C	3.37:g.38748813T>G	ENSP00000390600:p.Lys1448Thr		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.K1448T	ENST00000449082.2	37	c.4343	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118875	0.77323	.	.	ENSG00000185313	ENST00000449082	D	0.96104	-3.91	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.97807	0.9280	M	0.93283	3.4	0.45791	D	0.998674	D	0.71674	0.998	P	0.62740	0.906	D	0.98413	1.0573	10	0.87932	D	0	.	10.9645	0.47403	0.0:0.0754:0.0:0.9245	.	1448	Q9Y5Y9	SCNAA_HUMAN	T	1448	ENSP00000390600:K1448T	ENSP00000390600:K1448T	K	-	2	0	SCN10A	38723817	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.080000	0.71299	2.113000	0.64589	0.533000	0.62120	AAG	SCN10A	-	NULL	ENSG00000185313		0.532	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	-	0	84	0	T	NM_006514		38748813	-1	tier1	-	no_errors	ENST00000449082	ensembl	human	known	74_37	missense	34.04	31	16	SNP	1.000	G	G	38748813	T	G	38748813	3	3	152	1	0	0	0	0	1	0	0	0	13957	1609	56	4	1539	4	SCN10A	3	38748813	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	956810	38748813	159273617	68	38673											
KIF9	64147	genome.wustl.edu	37	chr3	47307360	47307360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcttccttcaggacttggCcctcagactacaaagcaaag	11	9	9	12	0	2	1	2	0	0	1	3	2	3	2	2	3	2	2	2	3	3	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:47307360C>T	ENST00000265529.3	-	9	1456	c.776G>A	c.(775-777)gGc>gAc	p.G259D	KIF9_ENST00000335044.2_Missense_Mutation_p.G259D|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.G259D|KIF9_ENST00000352910.4_Missense_Mutation_p.G166D|KIF9_ENST00000444589.2_Missense_Mutation_p.G259D			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	259	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGGACTTGGCCCTCAGACTA	0.502																																					Colon(44;962 1147 15977 24541)												0													159	141	147					3																	47307360		2203	4300	6503	SO:0001583	missense	0			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.776G>A	3.37:g.47307360C>T	ENSP00000265529:p.Gly259Asp		Q86Z28|Q9H8A4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G259D	ENST00000265529.3	37	c.776	CCDS2752.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760356	0.89932	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.0	5.0	0.66597	Kinesin, motor domain (4);	0.060422	0.64402	D	0.000005	D	0.86053	0.5841	M	0.78285	2.405	0.51482	D	0.999922	D;D	0.71674	0.988;0.998	P;D	0.69479	0.861;0.964	D	0.87064	0.2155	10	0.87932	D	0	.	10.5916	0.45312	0.0:0.9117:0.0:0.0883	.	259;259	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	D	259;259;259;259;166	ENSP00000333942:G259D;ENSP00000265529:G259D;ENSP00000414987:G259D;ENSP00000391100:G259D;ENSP00000292334:G166D	ENSP00000265529:G259D	G	-	2	0	KIF9	47282364	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.380000	0.59581	2.615000	0.88500	0.650000	0.86243	GGC	KIF9	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000088727		0.502	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	HGNC	protein_coding	OTTHUMT00000257475.2		0	42	0	C			47307360	-1			no_errors	ENST00000265529	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	47307360	C	T	47307360	3	4	152	1	0	0	0	0	1	0	0	0	8337	739	26	3	1652	3	KIF9	3	47307360	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	8558547	47307360	150715070	69	38674											
IP6K2	51447	genome.wustl.edu	37	chr3	48732764	48732764	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggagatgggggaggcagcgGagtccagcggccagtacgtc	8	4	20	9	3	0	1	0	0	0	1	2	4	1	3	2	6	3	2	2	6	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:48732764G>T	ENST00000328631.5	-	0	184				IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000432678.2_5'UTR|IP6K2_ENST00000453202.1_5'UTR|IP6K2_ENST00000450045.1_Silent_p.L41L|IP6K2_ENST00000443964.1_Silent_p.L46L|IP6K2_ENST00000413298.1_5'UTR|IP6K2_ENST00000417896.1_5'UTR|IP6K2_ENST00000449610.1_5'UTR|IP6K2_ENST00000446860.1_Silent_p.L45L|IP6K2_ENST00000431721.2_Silent_p.L42L|IP6K2_ENST00000340879.4_5'UTR	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2						cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GGAGGCAGCGGAGTCCAGCGG	0.632																																																	0													14	15	15					3																	48732764		2201	4296	6497	SO:0001623	5_prime_UTR_variant	0			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.-40C>A	3.37:g.48732764G>T			A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Silent	SNP	NULL	p.L45	ENST00000328631.5	37	c.135	CCDS2777.1	3																																																																																			IP6K2	-	NULL	ENSG00000068745		0.632	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2	-	0	28	0	G	NM_016291		48732764	-1	tier1	-	no_errors	ENST00000412795	ensembl	human	known	74_37	silent	19.05	17	4	SNP	0.009	T	T	48732764	G	T	48732764	1	4	152	0	1	0	0	0	0	0	0	0	7816	1161	41	3		3	IP6K2	3	48732764	5'UTR	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	1425404	48732764	149289666	70	38675											
STAB1	23166	genome.wustl.edu	37	chr3	52544253	52544253	+	Splice_Site	SNP	T	T	C	0	1	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	tggaggctgctcagagaatgTcagtccccttgctccttccc	6	11	10	14	0	2	1	2	0	0	1	5	3	5	2	4	2	2	3	4	2	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:52544253T>C	ENST00000321725.6	+	24	2704		c.e24+2			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						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)		TCAGAGAATGTCAGTCCCCTT	0.577																																																	0													104	97	99					3																	52544253		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2628+2T>C	3.37:g.52544253T>C			A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	-	e24+2	ENST00000321725.6	37	c.2628+2	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952386	0.53293	.	.	ENSG00000010327	ENST00000321725	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3515	0.74393	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB1	52519293	1.000000	0.71417	0.999000	0.59377	0.351000	0.29236	4.668000	0.61568	2.109000	0.64355	0.533000	0.62120	.	STAB1	-	-	ENSG00000010327		0.577	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0	74	0	T	NM_015136	Intron	52544253	1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	splice_site	37.50	35	21	SNP	1.000	C	C	52544253	T	C	52544253	5	2	152	1	0	0	0	0	0	0	1	0	15284	1681	58	4	2724	4	STAB1	3	52544253	Splice_Site	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	3811489	52544253	145478177	71	38676											
CNTN3	5067	genome.wustl.edu	37	chr3	74414720	74414720	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtccatgttaccttacctcTagcaccagggctgctccatt	7	12	8	14	0	1	0	0	0	1	0	3	0	3	0	5	2	4	4	5	2	3	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:74414720T>C	ENST00000263665.6	-	8	1107	c.1080A>G	c.(1078-1080)ctA>ctG	p.L360L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	360	Ig-like C2-type 4.				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)		ACCTTACCTCTAGCACCAGGG	0.498																																																	0													210	205	207					3																	74414720		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1080A>G	3.37:g.74414720T>C			B9EK50|Q9H039	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L360	ENST00000263665.6	37	c.1080	CCDS33790.1	3																																																																																			CNTN3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000113805		0.498	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0	90	0	T	NM_020872		74414720	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	silent	20.75	42	11	SNP	0.004	C	C	74414720	T	C	74414720	2	2	152	1	0	0	0	0	0	0	0	1	3649	1509	53	4		4	CNTN3	3	74414720	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	21870467	74414720	123607710	72	38677											
DCBLD2	131566	genome.wustl.edu	37	chr3	98527011	98527011	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacaagaactgcagccagCgctacatctgaagttacaaa	15	6	10	10	1	1	2	0	1	1	1	1	3	1	3	1	1	6	3	1	1	6	2	rs34472032		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:98527011C>A	ENST00000326840.6	-	13	1946	c.1584G>T	c.(1582-1584)gcG>gcT	p.A528A	DCBLD2_ENST00000326857.9_Silent_p.A528A	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	528					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)		p.A528A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CTGCAGCCAGCGCTACATCTG	0.413																																																	1	Substitution - coding silent(1)	endometrium(1)											79	76	77					3																	98527011		2035	4182	6217	SO:0001819	synonymous_variant	0				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.1584G>T	3.37:g.98527011C>A			B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.A528	ENST00000326840.6	37	c.1584	CCDS46878.1	3																																																																																			DCBLD2	-	NULL	ENSG00000057019		0.413	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2		0	85	0	C	NM_080927		98527011	-1			no_errors	ENST00000326857	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.002	A	A	98527011	C	A	98527011	2	1	152	1	0	0	0	0	0	0	0	1	4290	755	27	2		2	DCBLD2	3	98527011	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	24112291	98527011	99495419	73	38678											
RG9MTD1	54931	genome.wustl.edu	37	chr3	101283646	101283646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgctttcctcaaaatGagtgttagtgtcaatttctt	9	17	8	7	0	3	1	2	1	1	0	4	1	4	1	1	1	1	3	1	1	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:101283646G>T	ENST00000309922.6	+	2	175	c.21G>T	c.(19-21)atG>atT	p.M7I		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	7					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)	p.M7I(1)									TCCTCAAAATGAGTGTTAGTG	0.328																																																	1	Substitution - Missense(1)	lung(1)											163	155	157					3																	101283646		1807	4072	5879	SO:0001583	missense	0			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.21G>T	3.37:g.101283646G>T	ENSP00000312356:p.Met7Ile		Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase	p.M7I	ENST00000309922.6	37	c.21	CCDS43122.1	3	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026915	0.35797	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.24538	2.48;1.85	6.04	6.04	0.98038	.	1.203180	0.05772	N	0.607004	T	0.45175	0.1329	N	0.24115	0.695	0.35583	D	0.806439	D	0.69078	0.997	D	0.73380	0.98	T	0.41680	-0.9495	10	0.87932	D	0	-12.6492	18.383	0.90457	0.0:0.0:1.0:0.0	.	7	Q7L0Y3	MRRP1_HUMAN	I	7	ENSP00000312356:M7I;ENSP00000419389:M7I	ENSP00000312356:M7I	M	+	3	0	RG9MTD1	102766336	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	4.446000	0.60014	2.873000	0.98535	0.563000	0.77884	ATG	TRMT10C	-	NULL	ENSG00000174173		0.328	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10C	HGNC	protein_coding	OTTHUMT00000353400.2		0	67	0	G	NM_017819		101283646	1			no_errors	ENST00000309922	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	101283646	G	T	101283646	3	4	152	1	0	0	0	0	1	0	0	0	13316	1290	45	3	23	3	RG9MTD1	3	101283646	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	2756635	101283646	96738784	74	38679											
HHLA2	11148	genome.wustl.edu	37	chr3	108076930	108076930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttgatggatcttaatCtttcagacagtggggaatat	12	15	10	4	0	3	3	1	2	2	1	3	5	3	5	0	3	0	0	0	3	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:108076930C>A	ENST00000357759.5	+	6	1339	c.925C>A	c.(925-927)Ctt>Att	p.L309I	HHLA2_ENST00000491820.1_Missense_Mutation_p.L309I|HHLA2_ENST00000467562.1_Missense_Mutation_p.L245I|HHLA2_ENST00000489514.2_Missense_Mutation_p.L309I|HHLA2_ENST00000467761.1_Missense_Mutation_p.L309I	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	309	Ig-like V-type 2.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGATCTTAATCTTTCAGACAG	0.368																																																	0													118	116	117					3																	108076930		1849	4085	5934	SO:0001583	missense	0			AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.925C>A	3.37:g.108076930C>A	ENSP00000350402:p.Leu309Ile		B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L309I	ENST00000357759.5	37	c.925	CCDS46883.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.033|9.033	0.987693|0.987693	0.18966|0.18966	.|.	.|.	ENSG00000114455|ENSG00000114455	ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514|ENST00000482099	T;T;T;T;T|.	0.68025|.	-0.3;-0.3;-0.3;-0.3;-0.3|.	5.21|5.21	1.17|1.17	0.20885|0.20885	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	1.075520|.	0.07505|.	N|.	0.907892|.	T|T	0.28333|0.28333	0.0700|0.0700	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.23377|.	0.084;0.041;0.041|.	B;B;B|.	0.27170|.	0.077;0.024;0.024|.	T|T	0.24728|0.24728	-1.0152|-1.0152	10|5	0.25106|.	T|.	0.35|.	0.3873|0.3873	9.5327|9.5327	0.39205|0.39205	0.1478:0.3941:0.4581:0.0|0.1478:0.3941:0.4581:0.0	.|.	245;309;309|.	B4DKN2;C9J7D0;Q9UM44|.	.;.;HHLA2_HUMAN|.	I|Y	309;245;309;309;309|211	ENSP00000418284:L309I;ENSP00000418345:L245I;ENSP00000350402:L309I;ENSP00000419207:L309I;ENSP00000417856:L309I|.	ENSP00000350402:L309I|.	L|S	+|+	1|2	0|0	HHLA2|HHLA2	109559620|109559620	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.053000|0.053000	0.15095|0.15095	-0.461000|-0.461000	0.06712|0.06712	-0.012000|-0.012000	0.14223|0.14223	0.650000|0.650000	0.86243|0.86243	CTT|TCT	HHLA2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000114455		0.368	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHLA2	HGNC	protein_coding	OTTHUMT00000353924.1		0	44	0	C	NM_007072		108076930	1			no_errors	ENST00000357759	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.000	A	A	108076930	C	A	108076930	3	1	152	1	0	0	0	0	1	0	0	0	7122	913	32	3	939	3	HHLA2	3	108076930	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	6793284	108076930	89945500	75	38680											
POLQ	10721	genome.wustl.edu	37	chr3	121208592	121208592	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ccttgtaaatggattctacaCgctccagagtctttcagggg	9	12	10	10	1	3	1	1	0	2	1	4	2	4	2	2	3	1	2	2	3	3	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:121208592C>T	ENST00000264233.5	-	16	3314	c.3186G>A	c.(3184-3186)gcG>gcA	p.A1062A		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1062					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)	p.A1197A(1)		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)		GGATTCTACACGCTCCAGAGT	0.418								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												1	Substitution - coding silent(1)	endometrium(1)											61	69	66					3																	121208592		2202	4300	6502	SO:0001819	synonymous_variant	0			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.3186G>A	3.37:g.121208592C>T			O95160|Q6VMB5	Silent	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.A1062	ENST00000264233.5	37	c.3186	CCDS33833.1	3																																																																																			POLQ	-	NULL	ENSG00000051341		0.418	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0	62	0	C	NM_199420		121208592	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.000	T	T	121208592	C	T	121208592	2	4	152	1	0	0	0	0	0	0	0	1	12247	523	19	1		1	POLQ	3	121208592	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	13131662	121208592	76813838	76	38681											
SNX4	8723	genome.wustl.edu	37	chr3	125170227	125170227	+	Silent	SNP	G	G	T	0	0	1	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	cggttcttttgttctttgaaGcgttcaatatcagcccatgc	7	16	8	10	2	4	1	2	1	2	0	4	1	4	1	1	1	3	3	1	1	3	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:125170227G>T	ENST00000251775.4	-	13	1251	c.1227C>A	c.(1225-1227)cgC>cgA	p.R409R	SNX4_ENST00000536067.1_Silent_p.R264R	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	409					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	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(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						GTTCTTTGAAGCGTTCAATAT	0.343																																																	0													188	185	186					3																	125170227		2203	4300	6503	SO:0001819	synonymous_variant	0			AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"Sorting nexins"	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1227C>A	3.37:g.125170227G>T			B3KMH0|B4DQV4|D3DNA3	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R409	ENST00000251775.4	37	c.1227	CCDS3032.1	3																																																																																			SNX4	-	NULL	ENSG00000114520		0.343	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX4	HGNC	protein_coding	OTTHUMT00000356299.1		0	81	0	G	NM_003794		125170227	-1			no_errors	ENST00000251775	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T	T	125170227	G	T	125170227	2	4	152	1	0	0	0	0	0	0	0	1	14949	958	34	3		3	SNX4	3	125170227	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	3961635	125170227	72852203	77	38682											
STAG1	10274	genome.wustl.edu	37	chr3	136221520	136221520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcattggctctcttccCaatcattttatttctctcgg	5	19	4	13	1	4	0	2	0	2	0	8	0	5	0	2	2	0	1	2	2	2	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:136221520C>A	ENST00000383202.2	-	8	1034	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	STAG1_ENST00000434713.2_Missense_Mutation_p.G34W|STAG1_ENST00000236698.5_Missense_Mutation_p.G260W	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	260					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						GCTCTCTTCCCAATCATTTTA	0.388																																																	0													170	161	164					3																	136221520		2203	4300	6503	SO:0001583	missense	0			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.778G>T	3.37:g.136221520C>A	ENSP00000372689:p.Gly260Trp		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.G260W	ENST00000383202.2	37	c.778	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.074432	0.94000	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.44083	0.93;0.93;0.93	5.67	5.67	0.87782	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.72894	2.215	0.80722	D	1	P;D;P	0.71674	0.93;0.998;0.93	D;D;D	0.83275	0.945;0.996;0.945	T	0.68017	-0.5520	10	0.72032	D	0.01	.	19.7542	0.96283	0.0:1.0:0.0:0.0	.	277;260;260	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	W	260;260;34	ENSP00000372689:G260W;ENSP00000236698:G260W;ENSP00000404396:G34W	ENSP00000236698:G260W	G	-	1	0	STAG1	137704210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.677000	0.91161	0.491000	0.48974	GGG	STAG1	-	pfam_STAG,superfamily_ARM-type_fold	ENSG00000118007		0.388	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1		0	71	0	C	NM_005862		136221520	-1			no_errors	ENST00000383202	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	136221520	C	A	136221520	3	1	152	1	0	0	0	0	1	0	0	0	15289	594	21	3	3106	3	STAG1	3	136221520	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	11051293	136221520	61800910	78	38683											
P2RY13	53829	genome.wustl.edu	37	chr3	151046374	151046374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaccgtttttgcaaaaacaGgtttttttagaaaaatattt	15	16	6	4	1	0	2	0	0	0	2	0	2	0	2	1	1	2	3	1	1	6	8			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:151046374G>A	ENST00000325602.5	-	2	489	c.470C>T	c.(469-471)cCt>cTt	p.P157L	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	157					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TGCAAAAACAGGTTTTTTTAG	0.403																																																	0													39	41	40					3																	151046374		2202	4300	6502	SO:0001583	missense	0			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.470C>T	3.37:g.151046374G>A	ENSP00000320376:p.Pro157Leu		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.P157L	ENST00000325602.5	37	c.470	CCDS3158.2	3	.	.	.	.	.	.	.	.	.	.	G	0.542	-0.853269	0.02630	.	.	ENSG00000181631	ENST00000325602	T	0.72835	-0.69	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.357282	0.28476	N	0.015216	T	0.44307	0.1287	N	0.04132	-0.27	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17623	-1.0363	10	0.25106	T	0.35	-3.6589	7.1437	0.25570	0.207:0.0:0.793:0.0	.	157	Q9BPV8	P2Y13_HUMAN	L	157	ENSP00000320376:P157L	ENSP00000320376:P157L	P	-	2	0	P2RY13	152529064	0.772000	0.28567	0.008000	0.14137	0.004000	0.04260	5.774000	0.68906	2.567000	0.86603	0.558000	0.71614	CCT	P2RY13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181631		0.403	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1	-	0	26	0	G	NM_023914		151046374	-1	tier1	-	no_errors	ENST00000325602	ensembl	human	known	74_37	missense	35.00	13	7	SNP	0.036	A	A	151046374	G	A	151046374	3	1	152	1	0	0	0	0	1	0	0	0	11389	1000	35	3	598	3	P2RY13	3	151046374	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	14824854	151046374	46976056	79	38684											
SLITRK3	22865	genome.wustl.edu	37	chr3	164906795	164906795	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatctctgggcaaagaacTtccagctcaatagtgcgcac	12	8	9	12	1	2	1	1	0	1	1	4	1	3	1	1	1	4	4	1	1	4	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:164906795T>G	ENST00000475390.1	-	2	2267	c.1824A>C	c.(1822-1824)gaA>gaC	p.E608D	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E608D			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	608	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGCAAAGAACTTCCAGCTCAA	0.547										HNSCC(40;0.11)																																							0													60	56	57					3																	164906795		2203	4300	6503	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1824A>C	3.37:g.164906795T>G	ENSP00000420091:p.Glu608Asp		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E608D	ENST00000475390.1	37	c.1824	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	T	10.14	1.269810	0.23221	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.52295	0.67;0.67	5.76	3.25	0.37280	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.38959	N	0.001505	T	0.40522	0.1120	L	0.43757	1.38	0.36023	D	0.838887	P	0.49961	0.93	P	0.48627	0.584	T	0.44862	-0.9300	10	0.34782	T	0.22	-10.2303	3.6104	0.08058	0.124:0.069:0.2579:0.5491	.	608	O94933	SLIK3_HUMAN	D	608	ENSP00000420091:E608D;ENSP00000241274:E608D	ENSP00000241274:E608D	E	-	3	2	SLITRK3	166389489	0.953000	0.32496	1.000000	0.80357	0.909000	0.53808	0.792000	0.26929	0.463000	0.27118	0.533000	0.62120	GAA	SLITRK3	-	smart_Cys-rich_flank_reg_C	ENSG00000121871		0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0	53	0	T	NM_014926		164906795	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	G	G	164906795	T	G	164906795	3	3	152	1	0	0	0	0	1	0	0	0	14789	1606	56	4	1113	4	SLITRK3	3	164906795	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	13860421	164906795	33115635	80	38685											
FXR1	8087	genome.wustl.edu	37	chr3	180693971	180693971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataaacggcccaactagtgCttctggcgatgacatttcta	12	11	8	10	2	2	1	0	1	2	0	2	2	2	1	1	2	3	1	1	2	6	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:180693971C>T	ENST00000357559.4	+	17	2141	c.1757C>T	c.(1756-1758)gCt>gTt	p.A586V	FXR1_ENST00000445140.2_3'UTR|FXR1_ENST00000491062.1_3'UTR|FXR1_ENST00000305586.7_Missense_Mutation_p.A501V|FXR1_ENST00000480918.1_Missense_Mutation_p.A573V|FXR1_ENST00000468861.1_3'UTR	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	586					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)			CCAACTAGTGCTTCTGGCGAT	0.403																																																	0													83	77	79					3																	180693971		2203	4300	6503	SO:0001583	missense	0			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.1757C>T	3.37:g.180693971C>T	ENSP00000350170:p.Ala586Val		A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1	p.A586V	ENST00000357559.4	37	c.1757	CCDS3238.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.37|11.37	1.619728|1.619728	0.28801|0.28801	.|.	.|.	ENSG00000114416|ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000480918|ENST00000482125	T;T;T|.	0.32023|.	1.66;1.47;1.47|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.404179|.	0.25786|.	N|.	0.028311|.	T|T	0.45054|0.45054	0.1323|0.1323	N|N	0.22421|0.22421	0.69|0.69	0.37920|0.37920	D|D	0.931666|0.931666	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.0|.	T|T	0.43621|0.43621	-0.9380|-0.9380	10|5	0.32370|.	T|.	0.25|.	-32.1113|-32.1113	12.2335|12.2335	0.54500|0.54500	0.0:0.9176:0.0:0.0824|0.0:0.9176:0.0:0.0824	.|.	573;530;586|.	B4DXZ6;E7ERF5;P51114|.	.;.;FXR1_HUMAN|.	V|F	586;501;573|214	ENSP00000350170:A586V;ENSP00000307633:A501V;ENSP00000418097:A573V|.	ENSP00000307633:A501V|.	A|L	+|+	2|1	0|0	FXR1|FXR1	182176665|182176665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.884000|2.884000	0.48562|0.48562	2.428000|2.428000	0.82296|0.82296	0.597000|0.597000	0.82753|0.82753	GCT|CTT	FXR1	-	NULL	ENSG00000114416		0.403	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	-	0	67	0	C			180693971	1	tier1	-	no_errors	ENST00000357559	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	T	T	180693971	C	T	180693971	3	4	152	1	0	0	0	0	1	0	0	0	6139	797	28	3	1823	3	FXR1	3	180693971	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	15787176	180693971	17328459	81	38686											
KLHL24	54800	genome.wustl.edu	37	chr3	183396909	183396909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtgtgtaatggtaaaatAtatatcctgggcggaagacg	12	12	12	5	2	1	1	0	0	1	1	2	2	2	2	1	3	0	2	1	3	7	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:183396909A>G	ENST00000454652.2	+	9	2024	c.1638A>G	c.(1636-1638)atA>atG	p.I546M	KLHL24_ENST00000242810.6_Missense_Mutation_p.I546M	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	546						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)			ATGGTAAAATATATATCCTGG	0.378																																																	0													96	101	100					3																	183396909		2203	4300	6503	SO:0001583	missense	0				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.1638A>G	3.37:g.183396909A>G	ENSP00000395012:p.Ile546Met		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I546M	ENST00000454652.2	37	c.1638	CCDS3246.1	3	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062421	0.76187	.	.	ENSG00000114796	ENST00000242810;ENST00000454652	D;D	0.85171	-1.95;-1.95	5.99	2.27	0.28462	Galactose oxidase, beta-propeller (1);	0.141748	0.64402	D	0.000012	D	0.91466	0.7306	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91914	0.5542	10	0.87932	D	0	.	14.7448	0.69483	0.3173:0.6827:0.0:0.0	.	546	Q6TFL4	KLH24_HUMAN	M	546	ENSP00000242810:I546M;ENSP00000395012:I546M	ENSP00000242810:I546M	I	+	3	3	KLHL24	184879603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.283000	0.65621	0.459000	0.27016	0.482000	0.46254	ATA	KLHL24	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000114796		0.378	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLHL24	HGNC	protein_coding	OTTHUMT00000346586.2	-	0	39	0	A	NM_017644		183396909	1	tier1	-	no_errors	ENST00000242810	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	G	G	183396909	A	G	183396909	3	3	152	1	0	0	0	0	1	0	0	0	8406	439	16	4	1660	4	KLHL24	3	183396909	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	2702938	183396909	14625521	82	38687											
HTR3C	170572	genome.wustl.edu	37	chr3	183772516	183772516	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ctgctctctataggaagaggCgacgcttttaccatcaattg	10	12	9	10	2	2	1	1	0	1	1	3	3	2	2	1	2	2	2	1	2	5	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:183772516C>T	ENST00000318351.1	+	2	109	c.75C>T	c.(73-75)ggC>ggT	p.G25G		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	25					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)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TAGGAAGAGGCGACGCTTTTA	0.512																																																	0													111	106	108					3																	183772516		2203	4300	6503	SO:0001819	synonymous_variant	0			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.75C>T	3.37:g.183772516C>T			A2RRR5	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.G25	ENST00000318351.1	37	c.75	CCDS3250.1	3																																																																																			HTR3C	-	NULL	ENSG00000178084		0.512	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3C	HGNC	protein_coding	OTTHUMT00000346296.1		0	43	0	C	NM_130770		183772516	1			no_errors	ENST00000318351	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.000	T	T	183772516	C	T	183772516	2	4	152	1	0	0	0	0	0	0	0	1	7473	755	27	1		1	HTR3C	3	183772516	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	375607	183772516	14249914	83	38688											
KNG1	3827	genome.wustl.edu	37	chr3	186457204	186457204	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgtcaaccactgggaatgGtatgattctaattacagtca	13	12	8	8	0	3	1	2	1	1	0	3	2	3	2	1	2	2	1	1	2	5	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr3:186457204G>T	ENST00000265023.4	+	9	1337		c.e9+1		KNG1_ENST00000447445.1_Splice_Site|KNG1_ENST00000287611.2_Splice_Site|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1						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)		ACTGGGAATGGTATGATTCTA	0.418																																																	0													91	85	87					3																	186457204		2203	4300	6503	SO:0001630	splice_region_variant	0				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.1125+1G>T	3.37:g.186457204G>T			A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Splice_Site	SNP	-	e9+1	ENST00000265023.4	37	c.1125+1	CCDS43183.1	3	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429625	0.43122	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1087	0.59261	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KNG1	187939898	1.000000	0.71417	0.987000	0.45799	0.117000	0.20001	3.795000	0.55499	2.811000	0.96726	0.557000	0.71058	.	KNG1	-	-	ENSG00000113889		0.418	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KNG1	HGNC	protein_coding	OTTHUMT00000317738.1	-	0	87	0	G	NM_001102416	Intron	186457204	1	tier1	-	no_errors	ENST00000265023	ensembl	human	known	74_37	splice_site	6.78	55	4	SNP	0.990	T	T	186457204	G	T	186457204	5	4	152	1	0	0	0	0	0	0	1	0	8454	1275	44	3	1160	3	KNG1	3	186457204	Splice_Site	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	2684688	186457204	11565226	84	38689											
EVC	2121	genome.wustl.edu	37	chr4	5758088	5758088	+	Splice_Site	SNP	A	A	G	1	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	ggctgtggttgcactctgccAggtacatggcctctgtgggg	4	11	16	10	0	2	0	0	0	2	0	2	0	2	0	2	6	3	4	2	6	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:5758088A>G	ENST00000264956.6	+	11	1746	c.1562A>G	c.(1561-1563)cAg>cGg	p.Q521R	EVC_ENST00000382674.2_Splice_Site_p.Q521R|EVC_ENST00000509451.1_Splice_Site_p.Q521R	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	521					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)				GCACTCTGCCAGGTACATGGC	0.602																																																	0													70	62	65					4																	5758088		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1563+1A>G	4.37:g.5758088A>G				Missense_Mutation	SNP	NULL	p.Q521R	ENST00000264956.6	37	c.1562	CCDS3383.1	4	.	.	.	.	.	.	.	.	.	.	A	15.05	2.718581	0.48622	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.55234	0.53;0.53;0.58	5.12	5.12	0.69794	.	0.067412	0.64402	D	0.000015	T	0.64283	0.2584	M	0.64997	1.995	0.80722	D	1	D	0.54207	0.965	P	0.58660	0.843	T	0.64567	-0.6377	10	0.41790	T	0.15	.	12.8875	0.58053	1.0:0.0:0.0:0.0	.	521	P57679	EVC_HUMAN	R	521	ENSP00000264956:Q521R;ENSP00000372120:Q521R;ENSP00000426774:Q521R	ENSP00000264956:Q521R	Q	+	2	0	EVC	5808989	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	4.708000	0.61859	1.909000	0.55274	0.528000	0.53228	CAG	EVC	-	NULL	ENSG00000072840		0.602	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1	-	0	47	0	A		Missense_Mutation	5758088	1	tier1	-	no_errors	ENST00000264956	ensembl	human	known	74_37	missense	60.53	15	23	SNP	1.000	G	G	5758088	A	G	5758088	5	3	152	1	0	0	0	0	0	0	1	0	5301	202	7	4	1604	4	EVC	4	5758088	Splice_Site	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09		5758088	185396188	85	38690											
CRMP1	1400	genome.wustl.edu	37	chr4	5841268	5841268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggccagtagggaggtcaAgtagtcgggcgtggtagggt	8	7	19	7	2	1	0	1	0	0	0	2	1	1	1	2	6	0	3	2	6	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:5841268A>C	ENST00000397890.2	-	9	1163	c.949T>G	c.(949-951)Ttg>Gtg	p.L317V	CRMP1_ENST00000324989.7_Missense_Mutation_p.L431V|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.L315V	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	317					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		AGGGAGGTCAAGTAGTCGGGC	0.642																																																	0													42	41	42					4																	5841268		2202	4299	6501	SO:0001583	missense	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.949T>G	4.37:g.5841268A>C	ENSP00000380987:p.Leu317Val		A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.L431V	ENST00000397890.2	37	c.1291	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971555	0.53614	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.96104	-3.91;-3.91;-3.91	3.71	-4.81	0.03180	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.64402	D	0.000002	D	0.95943	0.8679	M	0.80332	2.49	0.51767	D	0.999937	P;D;D;P	0.63880	0.91;0.993;0.981;0.93	P;P;P;P	0.61800	0.697;0.894;0.894;0.844	D	0.93547	0.6883	10	0.87932	D	0	-16.1967	8.9964	0.36055	0.7249:0.0:0.1568:0.1183	.	431;315;317;254	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	V	431;317;317;315	ENSP00000321606:L431V;ENSP00000380987:L317V;ENSP00000425742:L315V	ENSP00000321606:L431V	L	-	1	2	CRMP1	5892169	0.993000	0.37304	0.940000	0.37924	0.670000	0.39368	0.155000	0.16362	-1.365000	0.02158	-0.366000	0.07423	TTG	CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000072832		0.642	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	-	0	193	0	A	NM_001313		5841268	-1	tier1	-	no_errors	ENST00000324989	ensembl	human	known	74_37	missense	52.08	69	75	SNP	0.963	C	C	5841268	A	C	5841268	3	2	152	1	0	0	0	0	1	0	0	0	3897	69	3	4	793	4	CRMP1	4	5841268	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	83180	5841268	185313008	86	38691											
ATP8A1	10396	genome.wustl.edu	37	chr4	42583708	42583708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtgtatttctcaactgaGctcctcgaagaagaatctga	12	12	8	9	1	2	4	1	2	2	2	5	5	3	4	1	0	2	2	1	0	5	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:42583708G>T	ENST00000381668.5	-	10	995	c.764C>A	c.(763-765)gCt>gAt	p.A255D	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A255D	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	255					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)	TCTCAACTGAGCTCCTCGAAG	0.408																																																	0													146	133	137					4																	42583708		2203	4300	6503	SO:0001583	missense	0			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.764C>A	4.37:g.42583708G>T	ENSP00000371084:p.Ala255Asp		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.A255D	ENST00000381668.5	37	c.764	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.705485	0.96812	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.90955	-2.76;-2.76	5.92	5.92	0.95590	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97340	0.9130	H	0.97131	3.945	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.998	D;D;D	0.85130	0.997;0.978;0.984	D	0.97900	1.0302	10	0.87932	D	0	.	20.3151	0.98650	0.0:0.0:1.0:0.0	.	255;255;255	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	D	255	ENSP00000371084:A255D;ENSP00000264449:A255D	ENSP00000264449:A255D	A	-	2	0	ATP8A1	42278465	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.809000	0.96659	0.467000	0.42956	GCT	ATP8A1	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000124406		0.408	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	-	0	85	0	G	NM_006095		42583708	-1	tier1	-	no_errors	ENST00000381668	ensembl	human	known	74_37	missense	8.62	53	5	SNP	1.000	T	T	42583708	G	T	42583708	3	4	152	1	0	0	0	0	1	0	0	0	1193	971	34	3	2842	3	ATP8A1	4	42583708	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	36742440	42583708	148570568	87	38692											
GRXCR1	389207	genome.wustl.edu	37	chr4	42895288	42895288	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgggtggaggtgaccatgcTtaaaagggagatgaagccag	13	7	16	5	0	0	3	0	2	0	1	0	5	0	4	2	4	2	1	2	4	3	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:42895288T>G	ENST00000399770.2	+	1	5	c.5T>G	c.(4-6)cTt>cGt	p.L2R	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	2					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.L2H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTGACCATGCTTAAAAGGGAG	0.488																																																	1	Substitution - Missense(1)	ovary(1)											84	89	87					4																	42895288		2024	4187	6211	SO:0001583	missense	0				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.5T>G	4.37:g.42895288T>G	ENSP00000382670:p.Leu2Arg			Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.L2R	ENST00000399770.2	37	c.5	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347674	0.24426	.	.	ENSG00000215203	ENST00000399770	T	0.32988	1.43	5.61	5.61	0.85477	.	0.417188	0.21838	U	0.068375	T	0.26122	0.0637	N	0.22421	0.69	0.21499	N	0.999663	B	0.32693	0.38	B	0.35607	0.206	T	0.28332	-1.0047	10	0.66056	D	0.02	-1.9946	15.0009	0.71469	0.0:0.0:0.0:1.0	.	2	A8MXD5	GRCR1_HUMAN	R	2	ENSP00000382670:L2R	ENSP00000382670:L2R	L	+	2	0	GRXCR1	42590045	0.995000	0.38212	0.830000	0.32933	0.006000	0.05464	5.558000	0.67319	2.135000	0.66039	0.528000	0.53228	CTT	GRXCR1	-	NULL	ENSG00000215203		0.488	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1		0	55	0	T	NM_001080476		42895288	1			no_errors	ENST00000399770	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.423	G	G	42895288	T	G	42895288	3	3	152	1	0	0	0	0	1	0	0	0	6839	1609	56	4	7	4	GRXCR1	4	42895288	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	311580	42895288	148258988	88	38693											
NFXL1	152518	genome.wustl.edu	37	chr4	47877280	47877280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtgacttggagcaccCttcctcacaatgaaggcatt	9	10	10	12	1	1	2	1	2	0	0	2	3	2	3	3	3	1	2	3	3	2	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:47877280C>A	ENST00000507489.1	-	18	2286	c.2110G>T	c.(2110-2112)Ggg>Tgg	p.G704W	NFXL1_ENST00000381538.3_Missense_Mutation_p.G704W	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	704						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TTGGAGCACCCTTCCTCACAA	0.433																																																	0													88	71	77					4																	47877280		2203	4300	6503	SO:0001583	missense	0			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2110G>T	4.37:g.47877280C>A	ENSP00000422037:p.Gly704Trp		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.G704W	ENST00000507489.1	37	c.2110	CCDS3478.2	4	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845499	0.71603	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.29655	1.56;1.56	5.84	4.1	0.47936	.	0.145962	0.46145	D	0.000315	T	0.50000	0.1590	M	0.70595	2.14	0.80722	D	1	D	0.67145	0.996	P	0.61397	0.888	T	0.55560	-0.8122	10	0.72032	D	0.01	-11.553	13.0204	0.58784	0.0:0.867:0.0:0.133	.	704	Q6ZNB6	NFXL1_HUMAN	W	704	ENSP00000370949:G704W;ENSP00000422037:G704W	ENSP00000370949:G704W	G	-	1	0	NFXL1	47572037	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.589000	0.61006	1.478000	0.48253	0.484000	0.47621	GGG	NFXL1	-	NULL	ENSG00000170448		0.433	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1	-	0	112	0	C	NM_152995		47877280	-1	tier1	-	no_errors	ENST00000381538	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	A	A	47877280	C	A	47877280	3	1	152	1	0	0	0	0	1	0	0	0	10427	681	24	3	649	3	NFXL1	4	47877280	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	4981992	47877280	143276996	89	38694											
TECRL	253017	genome.wustl.edu	37	chr4	65275053	65275053	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgttccgaagcgagggacTtgtgccttttgaacattgtg	7	13	13	8	3	0	1	0	1	0	0	1	4	1	2	2	1	4	1	2	1	2	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:65275053T>C	ENST00000381210.3	-	1	127	c.17A>G	c.(16-18)aAg>aGg	p.K6R	TECRL_ENST00000507440.1_Missense_Mutation_p.K6R	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	6					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGCGAGGGACTTGTGCCTTTT	0.398																																																	0													114	113	114					4																	65275053		2203	4300	6503	SO:0001583	missense	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.17A>G	4.37:g.65275053T>C	ENSP00000370607:p.Lys6Arg			Missense_Mutation	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.K6R	ENST00000381210.3	37	c.17	CCDS33990.1	4	.	.	.	.	.	.	.	.	.	.	T	10.22	1.290089	0.23478	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.44083	0.93;0.93;0.93	4.98	3.79	0.43588	.	0.185369	0.37715	N	0.001968	T	0.38799	0.1054	M	0.68317	2.08	0.24930	N	0.991928	B;B	0.10296	0.003;0.0	B;B	0.14023	0.01;0.001	T	0.36744	-0.9735	10	0.51188	T	0.08	-5.4001	7.4427	0.27192	0.0:0.1084:0.0:0.8916	.	6;6	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	R	6	ENSP00000426043:K6R;ENSP00000370607:K6R;ENSP00000422497:K6R	ENSP00000370607:K6R	K	-	2	0	TECRL	64957648	0.839000	0.29477	0.968000	0.41197	0.376000	0.30014	0.573000	0.23699	0.838000	0.34948	0.528000	0.53228	AAG	TECRL	-	NULL	ENSG00000205678		0.398	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	-	0	112	0	T	NM_001010874		65275053	-1	tier1	-	no_errors	ENST00000381210	ensembl	human	known	74_37	missense	32.26	62	30	SNP	0.982	C	C	65275053	T	C	65275053	3	2	152	1	0	0	0	0	1	0	0	0	15793	1609	56	4	1122	4	TECRL	4	65275053	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	17397773	65275053	125879223	90	38695											
CXCL3	2921	genome.wustl.edu	37	chr4	74902990	74902990	+	Missense_Mutation	SNP	T	T	C	0	1	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	tctctcctgtcagttggtgcTccccctgtgatgagaaaagg	7	12	11	11	0	2	2	1	2	1	1	5	3	4	2	3	2	1	2	3	2	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:74902990T>C	ENST00000296026.4	-	4	390	c.313A>G	c.(313-315)Agc>Ggc	p.S105G	CXCL3_ENST00000511669.1_5'UTR	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3	105					immune response (GO:0006955)|inflammatory response (GO:0006954)|neutrophil chemotaxis (GO:0030593)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			CAGTTGGTGCTCCCCCTGTGA	0.502																																																	0													166	164	165					4																	74902990		2203	4300	6503	SO:0001583	missense	0			M36821	CCDS34007.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000163734		"Endogenous ligands"	4604	protein-coding gene	gene with protein product		139111	"GRO3 oncogene"	GRO3		2217207	Standard	NM_002090		Approved	SCYB3, GROg, MIP-2b, CINC-2b	uc003hhl.3	P19876		ENST00000296026.4:c.313A>G	4.37:g.74902990T>C	ENSP00000296026:p.Ser105Gly		Q4W5H9	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.S105G	ENST00000296026.4	37	c.313	CCDS34007.1	4	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246419	0.22796	.	.	ENSG00000163734	ENST00000296026	T	0.31247	1.5	3.12	1.95	0.26073	.	1.006340	0.07971	N	0.983996	T	0.32466	0.0830	M	0.74881	2.28	0.09310	N	1	B	0.21309	0.054	B	0.21360	0.034	T	0.35798	-0.9774	10	0.48119	T	0.1	.	4.4724	0.11719	0.0:0.1599:0.0:0.8401	.	105	P19876	CXCL3_HUMAN	G	105	ENSP00000296026:S105G	ENSP00000296026:S105G	S	-	1	0	CXCL3	75121854	0.000000	0.05858	0.040000	0.18447	0.200000	0.23975	0.248000	0.18198	0.606000	0.29965	0.254000	0.18369	AGC	CXCL3	-	NULL	ENSG00000163734		0.502	CXCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL3	HGNC	protein_coding	OTTHUMT00000362721.1		0	59	0	T			74902990	-1			no_errors	ENST00000296026	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.056	C	C	74902990	T	C	74902990	3	2	152	1	0	0	0	0	1	0	0	0	4095	1551	54	4	14	4	CXCL3	4	74902990	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	9627937	74902990	116251286	91	38696											
FGF5	2250	genome.wustl.edu	37	chr4	81207618	81207618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaagaggaaaagccaaacGagggtgcagcccccgggtta	15	4	13	9	2	0	1	0	0	0	1	0	3	0	2	3	3	4	2	3	3	6	2	rs201557946		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:81207618G>A	ENST00000312465.7	+	3	825	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	200					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AAAGCCAAACGAGGGTGCAGC	0.463																																																	0								G	GLN/ARG,	0,4406		0,0,2203	79	87	84		599,	5.8	0	4		84	2,8598	2.2+/-6.3	0,2,4298	yes	missense,utr-3	FGF5	NM_004464.3,NM_033143.2	43,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,	200/269,	81207618	2,13004	2203	4300	6503	SO:0001583	missense	0			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.599G>A	4.37:g.81207618G>A	ENSP00000311697:p.Arg200Gln		B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R200Q	ENST00000312465.7	37	c.599	CCDS34021.1	4	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513278	0.64522	0.0	2.33E-4	ENSG00000138675	ENST00000312465	T	0.69306	-0.39	5.82	5.82	0.92795	.	0.043185	0.85682	D	0.000000	T	0.71829	0.3386	M	0.64080	1.96	0.80722	D	1	P	0.47034	0.889	P	0.45610	0.487	T	0.74881	-0.3513	10	0.72032	D	0.01	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	200	P12034	FGF5_HUMAN	Q	200	ENSP00000311697:R200Q	ENSP00000311697:R200Q	R	+	2	0	FGF5	81426642	1.000000	0.71417	0.041000	0.18516	0.243000	0.25628	5.827000	0.69300	2.758000	0.94735	0.650000	0.86243	CGA	FGF5	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000138675		0.463	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF5	HGNC	protein_coding	OTTHUMT00000252627.2	-	0	62	0	G			81207618	1	tier1	rs201557946	no_errors	ENST00000312465	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.405	A	A	81207618	G	A	81207618	3	1	152	1	0	0	0	0	1	0	0	0	5877	1058	37	1	609	1	FGF5	4	81207618	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	6304628	81207618	109946658	92	38697											
PDHA2	5161	genome.wustl.edu	37	chr4	96761436	96761436	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgatctttatctgttggaAgagggtccccctgtcactac	7	14	10	10	0	3	2	1	1	2	1	4	3	4	3	2	2	1	1	2	2	3	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:96761436A>C	ENST00000295266.4	+	1	198	c.135A>C	c.(133-135)gaA>gaC	p.E45D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	45					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATCTGTTGGAAGAGGGTCCCC	0.493																																																	0													58	58	58					4																	96761436		2203	4300	6503	SO:0001583	missense	0				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.135A>C	4.37:g.96761436A>C	ENSP00000295266:p.Glu45Asp		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.E45D	ENST00000295266.4	37	c.135	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	A	3.858	-0.030401	0.07543	.	.	ENSG00000163114	ENST00000295266	D	0.97404	-4.37	4.64	-9.28	0.00656	.	0.223995	0.45126	N	0.000391	D	0.91277	0.7250	L	0.50847	1.595	0.27257	N	0.958721	B	0.02656	0.0	B	0.04013	0.001	T	0.77466	-0.2577	10	0.11794	T	0.64	-8.4472	8.7879	0.34832	0.4892:0.2602:0.2506:0.0	.	45	P29803	ODPAT_HUMAN	D	45	ENSP00000295266:E45D	ENSP00000295266:E45D	E	+	3	2	PDHA2	96980459	0.000000	0.05858	0.076000	0.20297	0.038000	0.13279	-2.185000	0.01252	-2.730000	0.00384	-1.486000	0.00981	GAA	PDHA2	-	NULL	ENSG00000163114		0.493	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	-	0	79	0	A			96761436	1	tier1	-	no_errors	ENST00000295266	ensembl	human	known	74_37	missense	46.88	17	15	SNP	0.034	C	C	96761436	A	C	96761436	3	2	152	1	0	0	0	0	1	0	0	0	11704	69	3	4	137	4	PDHA2	4	96761436	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	15553818	96761436	94392840	93	38698											
TRAM1L1	133022	genome.wustl.edu	37	chr4	118005646	118005646	+	Missense_Mutation	SNP	A	A	G	1	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	ttggatcgtgcaactggacgAcagaacagcaattttagctg	12	10	11	8	2	0	1	0	0	0	1	1	4	0	3	0	2	5	3	0	2	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:118005646A>G	ENST00000310754.4	-	1	1090	c.904T>C	c.(904-906)Tcg>Ccg	p.S302P		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	302	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CAACTGGACGACAGAACAGCA	0.453																																																	0													119	109	112					4																	118005646		2203	4300	6503	SO:0001583	missense	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.904T>C	4.37:g.118005646A>G	ENSP00000309402:p.Ser302Pro		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.S302P	ENST00000310754.4	37	c.904	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854536	0.32791	.	.	ENSG00000174599	ENST00000310754	D	0.85171	-1.95	3.74	2.51	0.30379	TRAM/LAG1/CLN8 homology domain (3);	0.111598	0.64402	D	0.000012	D	0.84460	0.5477	L	0.48642	1.525	0.31136	N	0.707154	P	0.41624	0.757	P	0.53102	0.718	T	0.81145	-0.1066	10	0.40728	T	0.16	-24.3637	7.1094	0.25382	0.7697:0.2303:0.0:0.0	.	302	Q8N609	TR1L1_HUMAN	P	302	ENSP00000309402:S302P	ENSP00000309402:S302P	S	-	1	0	TRAM1L1	118225094	1.000000	0.71417	0.336000	0.25522	0.412000	0.31113	1.966000	0.40481	0.753000	0.32945	0.528000	0.53228	TCG	TRAM1L1	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	ENSG00000174599		0.453	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	-	0	61	0	A	NM_152402		118005646	-1	tier1	-	no_errors	ENST00000310754	ensembl	human	known	74_37	missense	63.89	13	23	SNP	0.839	G	G	118005646	A	G	118005646	3	3	152	1	0	0	0	0	1	0	0	0	16500	275	10	4	209	4	TRAM1L1	4	118005646	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	21244210	118005646	73148630	94	38699											
PDE5A	8654	genome.wustl.edu	37	chr4	120528192	120528192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcatgatcaaaccttggaGgggttagaggcatctgttcc	10	11	11	9	0	3	2	2	1	1	1	4	3	4	3	2	4	1	3	2	4	2	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:120528192G>T	ENST00000354960.3	-	2	732	c.413C>A	c.(412-414)cCt>cAt	p.P138H	PDE5A_ENST00000264805.5_Missense_Mutation_p.P96H|PDE5A_ENST00000394439.1_Missense_Mutation_p.P86H	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	138					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AAACCTTGGAGGGGTTAGAGG	0.448																																																	0													112	106	108					4																	120528192		2203	4300	6503	SO:0001583	missense	0			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.413C>A	4.37:g.120528192G>T	ENSP00000347046:p.Pro138His		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.P138H	ENST00000354960.3	37	c.413	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295751	0.40594	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805;ENST00000420633	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	5.64	4.8	0.61643	.	0.971555	0.08510	N	0.935075	T	0.14657	0.0354	L	0.59436	1.845	0.33265	D	0.560209	B;B	0.29590	0.0;0.25	B;B	0.33392	0.004;0.163	T	0.10847	-1.0612	10	0.44086	T	0.13	.	14.5739	0.68232	0.0701:0.0:0.9299:0.0	.	138;96	O76074;O76074-2	PDE5A_HUMAN;.	H	138;86;96;86	ENSP00000347046:P138H;ENSP00000377957:P86H;ENSP00000264805:P96H;ENSP00000416309:P86H	ENSP00000264805:P96H	P	-	2	0	PDE5A	120747640	0.999000	0.42202	0.520000	0.27837	0.927000	0.56198	5.094000	0.64523	1.387000	0.46486	0.655000	0.94253	CCT	PDE5A	-	NULL	ENSG00000138735		0.448	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	-	0	114	0	G	NM_001083		120528192	-1	tier1	-	no_errors	ENST00000354960	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.718	T	T	120528192	G	T	120528192	3	4	152	1	0	0	0	0	1	0	0	0	11683	1000	35	3	2294	3	PDE5A	4	120528192	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	2522546	120528192	70626084	95	38700											
KIAA1109	84162	genome.wustl.edu	37	chr4	123207913	123207914	+	Nonsense_Mutation	DNP	GG	GG	TT																															aaacaaggttactatttacaGggaaattatctgcgttgtgt																										TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:123207913_123207914GG>TT	ENST00000264501.4	+	53	9628_9629	c.9255_9256GG>TT	c.(9253-9258)caGGga>caTTga	p.3085_3086QG>H*	KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.3085_3086QG>H*|KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.3085_3086QG>H*			Q2LD37	K1109_HUMAN	KIAA1109	3085					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						ACTATTTACAGGGAAATTATCT	0.327																																																	0																																										SO:0001587	stop_gained	0			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	Exception_encountered	4.37:g.123207913_123207914delinsTT	ENSP00000264501:p.Q3085_G3086delinsH*		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation|Nonsense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.Q3085H|p.G3086*	ENST00000264501.4	37	c.9255|c.9256	CCDS43267.1	4																																																																																			KIAA1109	-	NULL	ENSG00000138688		0.327	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	|-	0	116|114	0	G	NM_020797		123207913|123207914	1	|tier1	|-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense|nonsense	5.06|5.19	75|73	4	SNP	0.997|1.000	T	TT	123207914	GG	TT	123207913	4	4	152	1	0	0	0	0	0	1	0	0	8235	991	35	3	9457	3	KIAA1109	4	123207913	Nonsense_Mutation	DNP	GG	TCGA-RE-A7BO-01A-11D-A33E-09	2679721	123207913	67946363	96	38701											
NR3C2	4306	genome.wustl.edu	37	chr4	149356317	149356317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcacttcttctagacgacaGgtcgccgtgtgatttccatg	8	13	9	11	3	3	2	1	1	2	1	5	3	4	2	2	1	0	0	2	1	1	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:149356317G>T	ENST00000358102.3	-	2	2058	c.1696C>A	c.(1696-1698)Ctg>Atg	p.L566M	NR3C2_ENST00000511528.1_Missense_Mutation_p.L566M|NR3C2_ENST00000512865.1_Missense_Mutation_p.L566M|NR3C2_ENST00000344721.4_Missense_Mutation_p.L566M|NR3C2_ENST00000355292.3_Missense_Mutation_p.L566M	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	566	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)	CTAGACGACAGGTCGCCGTGT	0.413																																					Melanoma(27;428 957 40335 51025 51111)												0													117	119	118					4																	149356317		2203	4300	6503	SO:0001583	missense	0			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.1696C>A	4.37:g.149356317G>T	ENSP00000350815:p.Leu566Met		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L566M	ENST00000358102.3	37	c.1696	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	G	6.248	0.413854	0.11812	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.37;-2.37;-2.73	5.51	0.935	0.19483	.	0.275770	0.30949	N	0.008542	D	0.86904	0.6045	N	0.14661	0.345	0.35649	D	0.811589	P;D	0.64830	0.647;0.994	B;P	0.62089	0.146;0.898	D	0.84479	0.0604	9	.	.	.	.	8.6162	0.33833	0.2837:0.1174:0.5989:0.0	.	566;566	B0ZBF5;B0ZBF6	.;.	M	566	ENSP00000341390:L566M;ENSP00000347441:L566M;ENSP00000350815:L566M;ENSP00000423510:L566M;ENSP00000343907:L566M;ENSP00000421481:L566M	.	L	-	1	2	NR3C2	149575767	0.999000	0.42202	0.978000	0.43139	0.933000	0.57130	0.517000	0.22832	0.049000	0.15920	0.655000	0.94253	CTG	NR3C2	-	NULL	ENSG00000151623		0.413	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	-	0	79	0	G			149356317	-1	tier1	-	no_errors	ENST00000355292	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.961	T	T	149356317	G	T	149356317	3	4	152	1	0	0	0	0	1	0	0	0	10670	991	35	3	1290	3	NR3C2	4	149356317	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	26148404	149356317	41797959	97	38702											
FGB	2244	genome.wustl.edu	37	chr4	155491731	155491731	+	Missense_Mutation	SNP	A	A	C	1	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	atgatggtgtagtatggatgAattggaaggggtcatggtac	11	12	16	2	0	1	2	1	2	0	0	1	4	1	4	0	6	1	3	0	6	5	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:155491731A>C	ENST00000302068.4	+	8	1468	c.1405A>C	c.(1405-1407)Aat>Cat	p.N469H	FGB_ENST00000509493.1_Missense_Mutation_p.N250H|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	469	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGTATGGATGAATTGGAAGGG	0.473																																					NSCLC(106;1133 1613 21870 46110 52656)												0													201	177	185					4																	155491731		2203	4300	6503	SO:0001583	missense	0				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.1405A>C	4.37:g.155491731A>C	ENSP00000306099:p.Asn469His		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.N469H	ENST00000302068.4	37	c.1405	CCDS3786.1	4	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724133	0.89298	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.76968	-1.06;-1.06	5.48	5.48	0.80851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.81322	0.4798	N	0.25245	0.725	0.80722	D	1	D;P	0.89917	1.0;0.939	D;P	0.97110	1.0;0.705	D	0.84241	0.0472	10	0.87932	D	0	.	15.868	0.79080	1.0:0.0:0.0:0.0	.	452;469	B4E1D3;P02675	.;FIBB_HUMAN	H	469;452;250	ENSP00000306099:N469H;ENSP00000426757:N250H	ENSP00000306099:N469H	N	+	1	0	FGB	155711181	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.248000	0.95456	2.220000	0.72140	0.533000	0.62120	AAT	FGB	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000171564		0.473	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGB	HGNC	protein_coding	OTTHUMT00000317595.1	-	0	161	0	A	NM_005141		155491731	1	tier1	-	no_errors	ENST00000302068	ensembl	human	known	74_37	missense	50.45	55	56	SNP	1.000	C	C	155491731	A	C	155491731	3	2	152	1	0	0	0	0	1	0	0	0	5853	246	9	4	1435	4	FGB	4	155491731	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	6135414	155491731	35662545	98	38703											
GRIA2	2891	genome.wustl.edu	37	chr4	158234006	158234006	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggactgtgaaagggataaAgtaaacgacattgtagacca	16	8	11	6	1	0	2	0	1	0	1	0	5	0	4	1	2	1	2	1	2	6	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:158234006A>T	ENST00000264426.9	+	4	924	c.645A>T	c.(643-645)aaA>aaT	p.K215N	GRIA2_ENST00000507898.1_Missense_Mutation_p.K168N|GRIA2_ENST00000393815.2_Missense_Mutation_p.K168N|GRIA2_ENST00000296526.7_Missense_Mutation_p.K215N|GRIA2_ENST00000449365.1_Missense_Mutation_p.K168N	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	215					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)	AAAGGGATAAAGTAAACGACA	0.363																																																	0													106	110	109					4																	158234006		2203	4300	6503	SO:0001583	missense	0				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.645A>T	4.37:g.158234006A>T	ENSP00000264426:p.Lys215Asn		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K215N	ENST00000264426.9	37	c.645	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	A	22.1	4.249078	0.80024	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365;ENST00000503437	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.56	3.18	0.36537	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.84401	0.5464	L	0.36672	1.1	0.80722	D	1	D;D;D	0.71674	0.989;0.978;0.998	P;B;D	0.77557	0.808;0.333;0.99	T	0.82096	-0.0626	10	0.40728	T	0.16	.	9.3731	0.38266	0.8561:0.0:0.1439:0.0	.	215;215;168	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	N	168;168;215;215;168;88	ENSP00000426845:K168N;ENSP00000377403:K168N;ENSP00000296526:K215N;ENSP00000264426:K215N;ENSP00000389837:K168N;ENSP00000426784:K88N	ENSP00000264426:K215N	K	+	3	2	GRIA2	158453456	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.982000	0.63825	0.953000	0.37825	-0.371000	0.07208	AAA	GRIA2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000120251		0.363	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	-	0	60	0	A			158234006	1	tier1	-	no_errors	ENST00000264426	ensembl	human	known	74_37	missense	24.59	46	15	SNP	1.000	T	T	158234006	A	T	158234006	3	4	152	1	0	0	0	0	1	0	0	0	6795	69	3	5	659	5	GRIA2	4	158234006	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	2742275	158234006	32920270	99	38704											
GRIA2	2891	genome.wustl.edu	37	chr4	158257857	158257857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttaatagtctctggttttCcttgggtgcctttatgcagc	5	19	9	8	0	1	0	0	0	1	0	3	0	2	0	2	2	3	2	2	2	3	8	rs267600059		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:158257857C>A	ENST00000264426.9	+	11	2081	c.1802C>A	c.(1801-1803)tCc>tAc	p.S601Y	GRIA2_ENST00000507898.1_Missense_Mutation_p.S554Y|GRIA2_ENST00000393815.2_Missense_Mutation_p.S554Y|GRIA2_ENST00000296526.7_Missense_Mutation_p.S601Y|GRIA2_ENST00000449365.1_Missense_Mutation_p.S554Y	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	601					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)	p.S601F(2)		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)	CTCTGGTTTTCCTTGGGTGCC	0.433																																																	2	Substitution - Missense(2)	skin(2)											133	136	135					4																	158257857		2203	4300	6503	SO:0001583	missense	0				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.1802C>A	4.37:g.158257857C>A	ENSP00000264426:p.Ser601Tyr		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S601Y	ENST00000264426.9	37	c.1802	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265908	0.80358	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.66	5.66	0.87406	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	M	0.89353	3.025	0.80722	D	1	B;D;D	0.76494	0.14;0.999;0.998	B;D;D	0.91635	0.137;0.999;0.996	T	0.70414	-0.4878	10	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	601;601;554	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	Y	554;554;601;601;554	ENSP00000426845:S554Y;ENSP00000377403:S554Y;ENSP00000296526:S601Y;ENSP00000264426:S601Y;ENSP00000389837:S554Y	ENSP00000264426:S601Y	S	+	2	0	GRIA2	158477307	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	TCC	GRIA2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000120251		0.433	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2		0	62	0	C			158257857	1			no_errors	ENST00000264426	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A	A	158257857	C	A	158257857	3	1	152	1	0	0	0	0	1	0	0	0	6795	855	30	3	1844	3	GRIA2	4	158257857	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	23851	158257857	32896419	100	38705											
WDR17	116966	genome.wustl.edu	37	chr4	177056320	177056320	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatcctaatcttttagcaaCagcttcatttgatggcacta	11	14	6	10	1	2	1	1	1	1	0	3	2	3	1	1	1	3	3	1	1	4	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:177056320C>A	ENST00000280190.4	+	9	1388	c.1232C>A	c.(1231-1233)aCa>aAa	p.T411K	WDR17_ENST00000508596.1_Missense_Mutation_p.T387K|WDR17_ENST00000393643.2_Missense_Mutation_p.T387K|WDR17_ENST00000507824.2_Missense_Mutation_p.T394K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	411										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)		CTTTTAGCAACAGCTTCATTT	0.368																																																	0													117	119	118					4																	177056320		2203	4300	6503	SO:0001583	missense	0			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.1232C>A	4.37:g.177056320C>A	ENSP00000280190:p.Thr411Lys		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T411K	ENST00000280190.4	37	c.1232	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.124931|5.124931	0.94429|0.94429	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.68181	.|-0.31;-0.31;-0.31	5.5|5.5	5.5|5.5	0.81552|0.81552	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87184|0.87184	0.6114|0.6114	M|M	0.93594|0.93594	3.435|3.435	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.90169|0.90169	0.4234|0.4234	5|10	.|0.87932	.|D	.|0	-23.7651|-23.7651	19.3911|19.3911	0.94583|0.94583	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|387;411	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	K|K	160|387;387;411;394	.|ENSP00000422763:T387K;ENSP00000377258:T387K;ENSP00000280190:T411K	.|ENSP00000280190:T411K	Q|T	+|+	1|2	0|0	WDR17|WDR17	177293314|177293314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.380000|7.380000	0.79704|0.79704	2.595000|2.595000	0.87683|0.87683	0.650000|0.650000	0.86243|0.86243	CAG|ACA	WDR17	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000150627		0.368	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0	82	0	C			177056320	1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	missense	63.64	12	21	SNP	1.000	A	A	177056320	C	A	177056320	3	1	152	1	0	0	0	0	1	0	0	0	17326	478	17	3	1262	3	WDR17	4	177056320	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	18798463	177056320	14097956	101	38706											
ODZ3	55714	genome.wustl.edu	37	chr4	183674674	183674674	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaggaaagttgaccaaaatGgaatcatatcaactcttctg	15	12	7	7	0	4	1	2	1	2	0	4	3	4	3	1	2	1	1	1	2	7	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr4:183674674G>T	ENST00000511685.1	+	21	4057	c.3934G>T	c.(3934-3936)Gga>Tga	p.G1312*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.G1312*|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1312					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)										TGACCAAAATGGAATCATATC	0.383																																																	0													111	110	110					4																	183674674		1922	4138	6060	SO:0001587	stop_gained	0			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.3934G>T	4.37:g.183674674G>T	ENSP00000424226:p.Gly1312*		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.G1312*	ENST00000511685.1	37	c.3934	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	41	8.961511	0.99018	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	1312	.	ENSP00000385276:G1312X	G	+	1	0	ODZ3	183911668	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GGA	TENM3	-	NULL	ENSG00000218336		0.383	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0	118	0	G			183674674	1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	nonsense	37.33	47	28	SNP	1.000	T	T	183674674	G	T	183674674	4	4	152	1	0	0	0	0	0	1	0	0	10875	1349	47	3	4012	3	ODZ3	4	183674674	Nonsense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	6618354	183674674	7479602	102	38707											
SLC6A19	340024	genome.wustl.edu	37	chr5	1212600	1212600	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatcgagaccaccgggaagGtactgcatgggcccggccag	9	4	15	13	3	0	1	0	0	0	1	1	3	0	2	4	4	2	3	4	4	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr5:1212600G>T	ENST00000304460.10	+	4	719		c.e4+1			NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19						amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACCGGGAAGGTACTGCATGG	0.687																																																	1	Unknown(1)	upper_aerodigestive_tract(1)											61	60	61					5																	1212600		2203	4300	6503	SO:0001630	splice_region_variant	0			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.663+1G>T	5.37:g.1212600G>T			A8K446	Splice_Site	SNP	-	e4+1	ENST00000304460.10	37	c.663+1	CCDS34130.1	5	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820624	0.50633	.	.	ENSG00000174358	ENST00000304460	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0871	0.93209	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A19	1265600	1.000000	0.71417	0.992000	0.48379	0.421000	0.31385	9.518000	0.98022	2.586000	0.87340	0.491000	0.48974	.	SLC6A19	-	-	ENSG00000174358		0.687	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1		0	29	0	G	XM_291120	Intron	1212600	1			no_errors	ENST00000304460	ensembl	human	known	74_37	splice_site	5.00	38	2	SNP	1.000	T	T	1212600	G	T	1212600	5	4	152	1	0	0	0	0	0	0	1	0	14727	1275	44	3	678	3	SLC6A19	5	1212600	Splice_Site	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09		1212600	179702660	103	38708											
CDH12	1010	genome.wustl.edu	37	chr5	21783579	21783579	+	Silent	SNP	A	A	G	1	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	attgtaaagtagctgtccccAtcactcttccaatctatgaa	12	13	5	11	0	3	1	1	1	2	0	5	1	5	1	3	0	1	3	3	0	6	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr5:21783579A>G	ENST00000382254.1	-	11	2367	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D	CDH12_ENST00000522262.1_Silent_p.D387D|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Silent_p.D427D	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	427	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)	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						AGCTGTCCCCATCACTCTTCC	0.373										HNSCC(59;0.17)																																							0													194	188	190					5																	21783579		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1281T>C	5.37:g.21783579A>G			B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D427	ENST00000382254.1	37	c.1281	CCDS3890.1	5																																																																																			CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000154162		0.373	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	-	0	76	0	A	NM_004061		21783579	-1	tier1	-	no_errors	ENST00000382254	ensembl	human	known	74_37	silent	25.37	50	17	SNP	1.000	G	G	21783579	A	G	21783579	2	3	152	1	0	0	0	0	0	0	0	1	3105	214	8	4		4	CDH12	5	21783579	Silent	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	20570979	21783579	159131681	104	38709											
NIPBL	25836	genome.wustl.edu	37	chr5	36970987	36970987	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaatttcagcatcggtatCaagtcccattgttgcaggtg	10	14	9	8	1	2	0	2	0	0	0	4	0	3	0	1	2	2	4	1	2	3	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr5:36970987C>G	ENST00000282516.8	+	7	1119	c.620C>G	c.(619-621)tCa>tGa	p.S207*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.S207*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	207					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)			GCATCGGTATCAAGTCCCATT	0.308																																																	0													82	77	78					5																	36970987		2203	4300	6503	SO:0001587	stop_gained	0			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.620C>G	5.37:g.36970987C>G	ENSP00000282516:p.Ser207*		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S207*	ENST00000282516.8	37	c.620	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.651244	0.98901	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.34	5.34	0.76211	.	0.341470	0.28317	N	0.015792	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	18.1669	0.89731	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000282516:S207X	S	+	2	0	NIPBL	37006744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.312000	0.78968	2.664000	0.90586	0.655000	0.94253	TCA	NIPBL	-	NULL	ENSG00000164190		0.308	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0	94	0	C	NM_015384		36970987	1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	nonsense	11.25	71	9	SNP	1.000	G	G	36970987	C	G	36970987	4	3	152	1	0	0	0	0	0	1	0	0	10467	838	29	5	642	5	NIPBL	5	36970987	Nonsense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	15187408	36970987	143944273	105	38710											
C6	729	genome.wustl.edu	37	chr5	41160404	41160404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatactcttgcaaagctttCctgaggttgttccgttttgt	6	17	9	9	1	1	1	0	1	1	0	3	1	3	1	2	1	3	6	2	1	2	7	rs562300050		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr5:41160404C>A	ENST00000263413.3	-	11	1788	c.1524G>T	c.(1522-1524)agG>agT	p.R508S	C6_ENST00000337836.5_Missense_Mutation_p.R508S|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	508	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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.R508S(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)				GCAAAGCTTTCCTGAGGTTGT	0.522																																																	1	Substitution - Missense(1)	lung(1)											216	185	195					5																	41160404		2203	4300	6503	SO:0001583	missense	0			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.1524G>T	5.37:g.41160404C>A	ENSP00000263413:p.Arg508Ser			Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.R508S	ENST00000263413.3	37	c.1524	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120441	0.77323	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84730	-1.89;-1.89	6.06	5.19	0.71726	Membrane attack complex component/perforin (MACPF) domain (3);	0.197793	0.52532	D	0.000080	D	0.86272	0.5893	M	0.72894	2.215	0.45056	D	0.998075	P	0.42161	0.772	B	0.44315	0.446	D	0.86783	0.1980	10	0.54805	T	0.06	-13.7581	13.3841	0.60785	0.0:0.8694:0.0:0.1306	.	508	P13671	CO6_HUMAN	S	508	ENSP00000338861:R508S;ENSP00000263413:R508S	ENSP00000263413:R508S	R	-	3	2	C6	41196161	0.863000	0.29885	1.000000	0.80357	0.899000	0.52679	1.477000	0.35431	1.576000	0.49790	0.655000	0.94253	AGG	C6	-	pfam_MACPF,smart_MACPF,prints_MAC_perforin	ENSG00000039537		0.522	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1		0	70	0	C			41160404	-1			no_errors	ENST00000263413	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A	A	41160404	C	A	41160404	3	1	152	1	0	0	0	0	1	0	0	0	2322	854	30	3	1312	3	C6	5	41160404	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	4189417	41160404	139754856	106	38711											
C6	729	genome.wustl.edu	37	chr5	41176582	41176582	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgaagaaagttacctgagTtctttagttcctcactgcta	11	14	7	9	0	2	3	1	2	1	1	3	3	3	3	2	0	2	4	2	0	5	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr5:41176582T>G	ENST00000263413.3	-	8	1427	c.1163A>C	c.(1162-1164)aAc>aCc	p.N388T	C6_ENST00000337836.5_Missense_Mutation_p.N388T|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	388	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTTACCTGAGTTCTTTAGTTC	0.393																																																	0													69	66	67					5																	41176582		2203	4300	6503	SO:0001583	missense	0			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.1163A>C	5.37:g.41176582T>G	ENSP00000263413:p.Asn388Thr			Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.N388T	ENST00000263413.3	37	c.1163	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	T	8.404	0.842564	0.16963	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84298	-1.83;-1.83	5.36	4.18	0.49190	Membrane attack complex component/perforin (MACPF) domain (3);	0.434887	0.29396	N	0.012271	T	0.73659	0.3615	L	0.28344	0.845	0.40939	D	0.984457	B	0.12630	0.006	B	0.19666	0.026	T	0.64892	-0.6300	10	0.25106	T	0.35	-18.9299	7.2055	0.25905	0.0:0.0727:0.148:0.7793	.	388	P13671	CO6_HUMAN	T	388	ENSP00000338861:N388T;ENSP00000263413:N388T	ENSP00000263413:N388T	N	-	2	0	C6	41212339	1.000000	0.71417	0.993000	0.49108	0.622000	0.37654	1.713000	0.37951	1.032000	0.39892	0.482000	0.46254	AAC	C6	-	pfam_MACPF,smart_MACPF	ENSG00000039537		0.393	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	-	0	108	0	T			41176582	-1	tier1	-	no_errors	ENST00000263413	ensembl	human	known	74_37	missense	12.37	85	12	SNP	0.995	G	G	41176582	T	G	41176582	3	3	152	1	0	0	0	0	1	0	0	0	2322	1725	60	4	1685	4	C6	5	41176582	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	16178	41176582	139738678	107	38712											
ANKRD32	84250	genome.wustl.edu	37	chr5	93979038	93979038	+	Silent	SNP	T	T	G	0	1	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	agttcaccaagtggaataacTcatgtgattgccagtaatgc	13	11	9	8	0	2	1	2	1	0	0	2	2	2	2	2	1	3	2	2	1	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr5:93979038T>G	ENST00000265140.5	+	5	911	c.492T>G	c.(490-492)acT>acG	p.T164T		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	164	BRCT 2.					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)		GTGGAATAACTCATGTGATTG	0.303																																																	0													53	49	50					5																	93979038		692	1584	2276	SO:0001819	synonymous_variant	0			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.492T>G	5.37:g.93979038T>G			B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T164	ENST00000265140.5	37	c.492	CCDS4071.2	5																																																																																			ANKRD32	-	smart_BRCT_dom	ENSG00000133302		0.303	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	-	0	159	0	T	NM_032290		93979038	1	tier1	-	no_errors	ENST00000265140	ensembl	human	known	74_37	silent	15.13	129	23	SNP	0.999	G	G	93979038	T	G	93979038	2	3	152	1	0	0	0	0	0	0	0	1	660	1538	54	4		4	ANKRD32	5	93979038	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	52802456	93979038	86936222	108	38713											
ANKRD32	84250	genome.wustl.edu	37	chr5	94024234	94024234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattcctatttaccagccttGgggaaaactggtgtgcttgg	8	14	11	8	0	0	0	0	0	0	0	1	1	1	1	3	4	4	1	3	4	5	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr5:94024234G>A	ENST00000265140.5	+	17	2564	c.2145G>A	c.(2143-2145)ttG>ttA	p.L715L		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	715						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)		TACCAGCCTTGGGGAAAACTG	0.363																																																	0													95	97	96					5																	94024234		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2145G>A	5.37:g.94024234G>A			B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L715	ENST00000265140.5	37	c.2145	CCDS4071.2	5																																																																																			ANKRD32	-	NULL	ENSG00000133302		0.363	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	-	0	64	0	G	NM_032290		94024234	1	tier1	-	no_errors	ENST00000265140	ensembl	human	known	74_37	silent	15.38	55	10	SNP	1.000	A	A	94024234	G	A	94024234	2	1	152	1	0	0	0	0	0	0	0	1	660	1339	47	3		3	ANKRD32	5	94024234	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	45196	94024234	86891026	109	38714											
P4HA2	8974	genome.wustl.edu	37	chr5	131530679	131530679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcggtagtcaccttcccCgctccgcaagaggttgtacc	6	11	10	14	3	1	1	1	0	0	1	4	1	3	1	5	2	1	6	5	2	3	5	rs201287088		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr5:131530679C>A	ENST00000401867.1	-	15	2045	c.1477G>T	c.(1477-1479)Ggg>Tgg	p.G493W	P4HA2_ENST00000379100.2_Missense_Mutation_p.G491W|P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000166534.4_Missense_Mutation_p.G493W|P4HA2_ENST00000360568.3_Missense_Mutation_p.G491W|P4HA2_ENST00000379104.2_Missense_Mutation_p.G493W|P4HA2_ENST00000379086.1_Missense_Mutation_p.G491W			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	493	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TCACCTTCCCCGCTCCGCAAG	0.542																																					Esophageal Squamous(68;117 1135 17362 19256 34242)												0													198	159	172					5																	131530679		2203	4300	6503	SO:0001583	missense	0			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1477G>T	5.37:g.131530679C>A	ENSP00000384999:p.Gly493Trp		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G493W	ENST00000401867.1	37	c.1477	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	C	31	5.068422	0.93950	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.96	5.96	0.96718	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93556	0.7943	H	0.98646	4.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95265	0.8372	10	0.87932	D	0	-4.5313	20.4008	0.98991	0.0:1.0:0.0:0.0	.	493;491	O15460;O15460-2	P4HA2_HUMAN;.	W	493;491;493;491;493;491	ENSP00000384999:G493W;ENSP00000368379:G491W;ENSP00000166534:G493W;ENSP00000353772:G491W;ENSP00000368398:G493W;ENSP00000368394:G491W	ENSP00000166534:G493W	G	-	1	0	P4HA2	131558578	1.000000	0.71417	0.958000	0.39756	0.947000	0.59692	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	GGG	P4HA2	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	ENSG00000072682		0.542	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	-	0	76	0	C	NM_004199		131530679	-1	tier1	-	no_errors	ENST00000166534	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	131530679	C	A	131530679	3	1	152	1	0	0	0	0	1	0	0	0	11396	652	23	2	138	2	P4HA2	5	131530679	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	37506445	131530679	49384581	110	38715											
PCDHA4	56144	genome.wustl.edu	37	chr5	140188386	140188386	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cagtttcaggtgaccgctcgCgatgccggcgtgccacctct	5	9	12	15	5	2	1	1	1	1	0	3	2	2	1	4	2	2	2	4	2	0	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr5:140188386C>T	ENST00000530339.1	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.R538R|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.R538R|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	538	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(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCGCTCGCGATGCCGGCG	0.657																																																	0													60	67	65					5																	140188386		2203	4299	6502	SO:0001819	synonymous_variant	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1614C>T	5.37:g.140188386C>T			O75285|Q2M253	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R538	ENST00000530339.1	37	c.1614	CCDS54916.1	5																																																																																			PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204967		0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	-	0	135	0	C	NM_018907		140188386	1	tier1	-	no_errors	ENST00000530339	ensembl	human	known	74_37	silent	17.50	99	21	SNP	0.457	T	T	140188386	C	T	140188386	2	4	152	1	0	0	0	0	0	0	0	1	11565	755	27	1		1	PCDHA4	5	140188386	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	8657707	140188386	40726874	111	38716											
PCDHB10	56126	genome.wustl.edu	37	chr5	140573676	140573676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccacctgttcgccctcagGtcgctggactacgaggccct	5	8	12	16	3	1	0	1	0	0	0	3	2	1	1	4	4	1	2	4	4	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr5:140573676G>T	ENST00000239446.4	+	1	1735	c.1551G>T	c.(1549-1551)agG>agT	p.R517S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	517	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)			TCGCCCTCAGGTCGCTGGACT	0.706																																																	0													101	118	112					5																	140573676		2203	4297	6500	SO:0001583	missense	0			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.1551G>T	5.37:g.140573676G>T	ENSP00000239446:p.Arg517Ser		Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R517S	ENST00000239446.4	37	c.1551	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	g	12.08	1.830506	0.32329	.	.	ENSG00000120324	ENST00000239446	T	0.01584	4.75	3.53	1.64	0.23874	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.02807	0.0084	M	0.71581	2.175	0.09310	N	1	B	0.24092	0.097	B	0.32211	0.142	T	0.46884	-0.9159	9	0.66056	D	0.02	.	0.3344	0.00323	0.2408:0.2227:0.31:0.2265	.	517	Q9UN67	PCDBA_HUMAN	S	517	ENSP00000239446:R517S	ENSP00000239446:R517S	R	+	3	2	PCDHB10	140553860	0.000000	0.05858	0.005000	0.12908	0.959000	0.62525	-2.039000	0.01418	0.800000	0.34041	0.549000	0.68633	AGG	PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120324		0.706	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	-	0	409	0	G	NM_018930		140573676	1	tier1	-	no_errors	ENST00000239446	ensembl	human	known	74_37	missense	48.48	153	144	SNP	0.000	T	T	140573676	G	T	140573676	3	4	152	1	0	0	0	0	1	0	0	0	11574	1252	44	3	1553	3	PCDHB10	5	140573676	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	385290	140573676	40341584	112	38717											
PCDHGB7	56099	genome.wustl.edu	37	chr5	140798758	140798758	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ataaccctgcacattactgaCgtcaatgacaacgcgccggt	12	8	8	13	4	1	2	1	2	0	0	1	2	1	2	2	1	4	1	2	1	4	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr5:140798758C>T	ENST00000398594.2	+	1	1332	c.1332C>T	c.(1330-1332)gaC>gaT	p.D444D	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	444	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATTACTGACGTCAATGACA	0.572																																																	0													60	69	66					5																	140798758		2150	4236	6386	SO:0001819	synonymous_variant	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1332C>T	5.37:g.140798758C>T			Q9UN63	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D444	ENST00000398594.2	37	c.1332	CCDS47293.1	5																																																																																			PCDHGB7	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000254122		0.572	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	-	0	51	0	C	NM_018927		140798758	1	tier1	-	no_errors	ENST00000398594	ensembl	human	known	74_37	silent	11.36	39	5	SNP	0.453	T	T	140798758	C	T	140798758	2	4	152	1	0	0	0	0	0	0	0	1	11607	535	19	1		1	PCDHGB7	5	140798758	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	225082	140798758	40116502	113	38718											
NPM1	4869	genome.wustl.edu	37	chr5	170834716	170834716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttaatagggtggttctcttCccaaagtggaagccaaattc	11	12	9	9	0	1	0	0	0	1	0	4	1	2	1	2	3	1	1	2	3	5	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr5:170834716C>A	ENST00000296930.5	+	10	1085	c.784C>A	c.(784-786)Ccc>Acc	p.P262T	NPM1_ENST00000351986.6_Missense_Mutation_p.P233T|NPM1_ENST00000517671.1_Missense_Mutation_p.P262T	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	262	Required for nucleolar localization.				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)			TGGTTCTCTTCCCAAAGTGGA	0.378			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																			Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	0													113	115	114					5																	170834716		2203	4300	6503	SO:0001583	missense	0			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.784C>A	5.37:g.170834716C>A	ENSP00000296930:p.Pro262Thr		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	superfamily_Nucleoplasmin_core_dom	p.P262T	ENST00000296930.5	37	c.784	CCDS4376.1	5	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875453	0.72180	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000351986	T;T;T	0.73363	-0.74;-0.74;-0.56	4.87	4.87	0.63330	.	0.000000	0.85682	U	0.000000	D	0.87974	0.6313	M	0.90705	3.14	0.80722	D	1	D;D	0.67145	0.996;0.996	D;P	0.67103	0.949;0.901	D	0.90649	0.4581	10	0.87932	D	0	.	16.185	0.81946	0.0:1.0:0.0:0.0	.	233;262	P06748-2;P06748	.;NPM_HUMAN	T	262;262;233	ENSP00000428755:P262T;ENSP00000296930:P262T;ENSP00000341168:P233T	ENSP00000296930:P262T	P	+	1	0	NPM1	170767321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.708000	0.61859	2.404000	0.81709	0.655000	0.94253	CCC	NPM1	-	NULL	ENSG00000181163		0.378	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	HGNC	protein_coding	OTTHUMT00000252858.2	-	0	69	0	C	NM_002520		170834716	1	tier1	-	no_errors	ENST00000296930	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	170834716	C	A	170834716	3	1	152	1	0	0	0	0	1	0	0	0	10626	855	30	3	835	3	NPM1	5	170834716	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	30035958	170834716	10080544	114	38719											
DSP	1832	genome.wustl.edu	37	chr6	7579556	7579556	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggagctcagactggccCgagatgccaactcggaaaac	14	4	12	11	2	1	3	1	0	0	3	2	6	1	5	2	3	4	1	2	3	4	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:7579556C>A	ENST00000379802.3	+	23	3474	c.3133C>A	c.(3133-3135)Cga>Aga	p.R1045R	DSP_ENST00000418664.2_Silent_p.R1045R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1045	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)		CAGACTGGCCCGAGATGCCAA	0.433																																																	0													35	39	38					6																	7579556		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3133C>A	6.37:g.7579556C>A			B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R1045	ENST00000379802.3	37	c.3133	CCDS4501.1	6																																																																																			DSP	-	NULL	ENSG00000096696		0.433	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	-	0	65	0	C	NM_004415		7579556	1	tier1	-	no_errors	ENST00000379802	ensembl	human	known	74_37	silent	8.77	52	5	SNP	1.000	A	A	7579556	C	A	7579556	2	1	152	1	0	0	0	0	0	0	0	1	4795	644	23	2		2	DSP	6	7579556	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09		7579556	163535511	115	38720											
MBOAT1	154141	genome.wustl.edu	37	chr6	20131397	20131397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaacctggaatgccaaGgttgtgatcttctgagtgac	10	12	11	8	0	3	4	1	4	2	0	3	5	3	5	2	2	2	1	2	2	3	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:20131397G>A	ENST00000324607.7	-	5	617	c.453C>T	c.(451-453)acC>acT	p.T151T	MBOAT1_ENST00000536798.1_Silent_p.T151T|MBOAT1_ENST00000541730.1_Intron	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	151					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			GGAATGCCAAGGTTGTGATCT	0.468																																																	0													152	143	146					6																	20131397		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.453C>T	6.37:g.20131397G>A			A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Silent	SNP	pfam_MBOAT_fam	p.T151	ENST00000324607.7	37	c.453	CCDS34346.1	6																																																																																			MBOAT1	-	pfam_MBOAT_fam	ENSG00000172197		0.468	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT1	HGNC	protein_coding	OTTHUMT00000039980.1	-	0	124	0	G			20131397	-1	tier1	-	no_errors	ENST00000324607	ensembl	human	known	74_37	silent	60.71	44	68	SNP	0.996	A	A	20131397	G	A	20131397	2	1	152	1	0	0	0	0	0	0	0	1	9394	987	35	3		3	MBOAT1	6	20131397	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	12551841	20131397	150983670	116	38721											
ZKSCAN3	80317	genome.wustl.edu	37	chr6	28327544	28327544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggaggctgcaggccccCgcgaggcgctgagtcggctc	5	4	16	16	5	0	1	0	1	0	0	2	3	0	2	3	5	1	4	3	5	0	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:28327544C>A	ENST00000377255.3	+	3	478	c.181C>A	c.(181-183)Cgc>Agc	p.R61S	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R61S|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	61	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TGCAGGCCCCCGCGAGGCGCT	0.652																																																	0													46	54	51					6																	28327544		2203	4300	6503	SO:0001583	missense	0			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.181C>A	6.37:g.28327544C>A	ENSP00000366465:p.Arg61Ser		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R61S	ENST00000377255.3	37	c.181	CCDS4650.1	6	.	.	.	.	.	.	.	.	.	.	.	17.31	3.357628	0.61293	.	.	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.04862	3.54;3.54	3.71	2.81	0.32909	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.21509	0.0518	M	0.93854	3.465	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.15150	-1.0447	9	0.87932	D	0	.	11.5305	0.50607	0.1814:0.8186:0.0:0.0	.	61	Q9BRR0	ZKSC3_HUMAN	S	61	ENSP00000252211:R61S;ENSP00000366465:R61S	ENSP00000252211:R61S	R	+	1	0	ZKSCAN3	28435523	0.035000	0.19736	0.703000	0.30354	0.793000	0.44817	0.830000	0.27462	0.873000	0.35799	0.460000	0.39030	CGC	ZKSCAN3	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000189298		0.652	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN3	HGNC	protein_coding	OTTHUMT00000040189.3	-	0	81	0	C	NM_024493		28327544	1	tier1	-	no_errors	ENST00000252211	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.908	A	A	28327544	C	A	28327544	3	1	152	1	0	0	0	0	1	0	0	0	17736	652	23	2	183	2	ZKSCAN3	6	28327544	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	8196147	28327544	142787523	117	38722											
OR2W1	26692	genome.wustl.edu	37	chr6	29012868	29012868	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaagatggcgacaactcCtgacaggatcatctccattt	12	10	9	10	1	2	3	1	1	1	2	4	5	3	4	2	2	1	1	2	2	3	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:29012868C>A	ENST00000377175.1	-	1	149	c.85G>T	c.(85-87)Gga>Tga	p.G29*		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCGACAACTCCTGACAGGATC	0.398																																																	0													117	127	123					6																	29012868		1486	2696	4182	SO:0001587	stop_gained	0			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.85G>T	6.37:g.29012868C>A	ENSP00000366380:p.Gly29*		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G29*	ENST00000377175.1	37	c.85	CCDS4656.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952996	0.73902	.	.	ENSG00000204704	ENST00000377175	.	.	.	3.92	3.92	0.45320	.	0.000000	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8372	0.63417	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000366380:G29X	G	-	1	0	OR2W1	29120847	0.000000	0.05858	1.000000	0.80357	0.522000	0.34438	0.073000	0.14640	2.171000	0.68590	0.585000	0.79938	GGA	OR2W1	-	pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn	ENSG00000204704		0.398	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W1	HGNC	protein_coding	OTTHUMT00000076053.2		0	88	0	C			29012868	-1			no_errors	ENST00000377175	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	1.000	A	A	29012868	C	A	29012868	4	1	152	1	0	0	0	0	0	1	0	0	11071	690	24	3	881	3	OR2W1	6	29012868	Nonsense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	685324	29012868	142102199	118	38723											
HLA-DMB	3109	genome.wustl.edu	37	chr6	32905029	32905029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccgtaagagggggttaagGctaaatgggagagggtctgg	10	7	18	6	1	1	2	0	0	1	2	1	3	1	2	2	6	0	3	2	6	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:32905029G>T	ENST00000418107.2	-	3	804	c.542C>A	c.(541-543)gCc>gAc	p.A181D	AL645941.1_ENST00000390777.1_RNA|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.A181D	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	181	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GGGGGTTAAGGCTAAATGGGA	0.562																																																	0													137	107	117					6																	32905029		2203	4300	6503	SO:0001583	missense	0				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.542C>A	6.37:g.32905029G>T	ENSP00000398890:p.Ala181Asp		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.A181D	ENST00000418107.2	37	c.542	CCDS4760.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.929|9.929	1.214283|1.214283	0.22289|0.22289	.|.	.|.	ENSG00000242574|ENSG00000242574	ENST00000438510;ENST00000446948;ENST00000418107;ENST00000416244|ENST00000414017	T;T;T|.	0.02837|.	4.14;4.14;4.14|.	4.56|4.56	4.56|4.56	0.56223|0.56223	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);|.	0.112905|.	0.39834|.	N|.	0.001259|.	T|T	0.39145|0.39145	0.1067|0.1067	N|N	0.26042|0.26042	0.785|0.785	0.40230|0.40230	D|D	0.977838|0.977838	B;D;B;B;D|.	0.89917|.	0.285;1.0;0.263;0.156;1.0|.	B;D;B;B;D|.	0.91635|.	0.03;0.999;0.189;0.06;0.999|.	T|T	0.23691|0.23691	-1.0181|-1.0181	10|5	0.87932|.	D|.	0|.	.|.	13.0126|13.0126	0.58739|0.58739	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	181;181;63;70;181|.	E9PD01;A2AAT3;B0V061;B0V062;P28068|.	.;.;.;.;DMB_HUMAN|.	D|R	63;181;181;181|70	ENSP00000390848:A63D;ENSP00000398890:A181D;ENSP00000391010:A181D|.	ENSP00000391010:A181D|.	A|S	-|-	2|3	0|2	HLA-DMB|HLA-DMB	33013007|33013007	0.996000|0.996000	0.38824|0.38824	0.768000|0.768000	0.31515|0.31515	0.105000|0.105000	0.19272|0.19272	3.464000|3.464000	0.53057|0.53057	2.524000|2.524000	0.85096|0.85096	0.494000|0.494000	0.49563|0.49563	GCC|AGC	HLA-DMB	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000242574		0.562	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMB	HGNC	protein_coding	OTTHUMT00000076340.2		0	41	0	G	NM_002118		32905029	-1			no_errors	ENST00000418107	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.826	T	T	32905029	G	T	32905029	3	4	152	1	0	0	0	0	1	0	0	0	7226	1203	42	3	265	3	HLA-DMB	6	32905029	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	3892161	32905029	138210038	119	38724											
HSP90AB1	3326	genome.wustl.edu	37	chr6	44218921	44218921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtgttcatcatggacaGctgtgatgagttgataccag	9	12	12	8	1	2	3	2	3	0	0	2	4	2	4	2	1	2	3	2	1	1	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:44218921G>T	ENST00000371554.1	+	7	1308	c.1094G>T	c.(1093-1095)aGc>aTc	p.S365I	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S365I|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S365I			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	365					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)			ATCATGGACAGCTGTGATGAG	0.428																																																	0													145	144	144					6																	44218921		2203	4300	6503	SO:0001583	missense	0			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.1094G>T	6.37:g.44218921G>T	ENSP00000360609:p.Ser365Ile		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N	p.S365I	ENST00000371554.1	37	c.1094	CCDS4909.1	6	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427403	0.62733	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371565;ENST00000371562;ENST00000371556;ENST00000371554	T;T;T	0.09911	2.93;2.93;2.93	4.9	4.02	0.46733	Ribosomal protein S5 domain 2-type fold (1);	0.063361	0.64402	U	0.000009	T	0.09423	0.0232	L	0.58510	1.815	0.58432	D	0.999994	B;P;B	0.39071	0.176;0.658;0.176	B;B;B	0.44315	0.198;0.446;0.198	T	0.01635	-1.1307	10	0.87932	D	0	-21.2947	13.1604	0.59540	0.0782:0.0:0.9218:0.0	.	327;355;365	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	I	365;365;3;3;3;365	ENSP00000360709:S365I;ENSP00000325875:S365I;ENSP00000360609:S365I	ENSP00000325875:S365I	S	+	2	0	HSP90AB1	44326899	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.912000	0.56386	1.067000	0.40740	0.585000	0.79938	AGC	HSP90AB1	-	pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam	ENSG00000096384		0.428	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	HGNC	protein_coding	OTTHUMT00000040730.1	-	0	116	0	G	NM_007355		44218921	1	tier1	-	no_errors	ENST00000353801	ensembl	human	known	74_37	missense	7.29	88	7	SNP	1.000	T	T	44218921	G	T	44218921	3	4	152	1	0	0	0	0	1	0	0	0	7429	971	34	3	1116	3	HSP90AB1	6	44218921	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	11313892	44218921	126896146	120	38725											
EYS	346007	genome.wustl.edu	37	chr6	65300632	65300632	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctcagtgggtcccatagTtatgccatattgtcttattt	8	17	7	9	0	2	0	1	0	1	0	3	0	3	0	3	1	2	1	3	1	5	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:65300632T>G	ENST00000370621.3	-	26	5654	c.5128A>C	c.(5128-5130)Act>Cct	p.T1710P	EYS_ENST00000370616.2_Missense_Mutation_p.T1710P|EYS_ENST00000503581.1_Missense_Mutation_p.T1710P			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1710					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						GGTCCCATAGTTATGCCATAT	0.338																																																	0													29	26	27					6																	65300632		692	1590	2282	SO:0001583	missense	0				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.5128A>C	6.37:g.65300632T>G	ENSP00000359655:p.Thr1710Pro		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.T1710P	ENST00000370621.3	37	c.5128		6	.	.	.	.	.	.	.	.	.	.	T	7.213	0.595835	0.13875	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84070	-1.8;-1.78;-1.78	5.88	0.436	0.16549	.	.	.	.	.	T	0.41903	0.1179	N	0.08118	0	0.09310	N	1	B;B	0.21071	0.051;0.013	B;B	0.21917	0.037;0.007	T	0.37619	-0.9698	9	0.72032	D	0.01	.	1.6807	0.02831	0.1273:0.1424:0.2643:0.4661	.	1710;1710	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	P	1710	ENSP00000424243:T1710P;ENSP00000359655:T1710P;ENSP00000359650:T1710P	ENSP00000359650:T1710P	T	-	1	0	EYS	65357353	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.234000	0.17930	-0.133000	0.11537	0.482000	0.46254	ACT	EYS	-	NULL	ENSG00000188107		0.338	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	67	0	T	XM_294050		65300632	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	71.43	14	35	SNP	0.000	G	G	65300632	T	G	65300632	3	3	152	1	0	0	0	0	1	0	0	0	5348	1725	60	4	4223	4	EYS	6	65300632	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	21081711	65300632	105814435	121	38726											
DOPEY1	23033	genome.wustl.edu	37	chr6	83839955	83839955	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactagttatggacctggtgGgactgacacagtctgtggcc	8	10	13	10	0	1	1	0	1	1	0	1	3	1	3	2	4	0	1	2	4	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:83839955G>T	ENST00000349129.2	+	17	2715	c.2455G>T	c.(2455-2457)Gga>Tga	p.G819*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.G800*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.G810*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	819					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGACCTGGTGGGACTGACACA	0.498																																																	0													143	133	136					6																	83839955		2203	4300	6503	SO:0001587	stop_gained	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2455G>T	6.37:g.83839955G>T	ENSP00000195654:p.Gly819*		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.G819*	ENST00000349129.2	37	c.2455	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	44	10.881976	0.99483	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8745	0.96864	0.0:0.0:1.0:0.0	.	.	.	.	X	819;800;800	.	ENSP00000237163:G800X	G	+	1	0	DOPEY1	83896674	1.000000	0.71417	0.985000	0.45067	0.937000	0.57800	9.476000	0.97823	2.704000	0.92352	0.467000	0.42956	GGA	DOPEY1	-	superfamily_ARM-type_fold	ENSG00000083097		0.498	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	-	0	86	0	G	NM_015018		83839955	1	tier1	-	no_errors	ENST00000349129	ensembl	human	known	74_37	nonsense	6.58	71	5	SNP	1.000	T	T	83839955	G	T	83839955	4	4	152	1	0	0	0	0	0	1	0	0	4721	1233	43	3	2513	3	DOPEY1	6	83839955	Nonsense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	18539323	83839955	87275112	122	38727											
MANEA	79694	genome.wustl.edu	37	chr6	96034471	96034471	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagaacttcatcaacgaacTattcatttggggaaaaattt	15	12	6	8	1	3	1	3	0	0	1	3	3	3	2	1	2	3	0	1	2	6	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:96034471T>C	ENST00000358812.4	+	2	290	c.156T>C	c.(154-156)acT>acC	p.T52T	MANEA_ENST00000369293.1_Silent_p.T52T	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	52					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)		ATCAACGAACTATTCATTTGG	0.343																																																	0													86	88	87					6																	96034471		2203	4298	6501	SO:0001819	synonymous_variant	0			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.156T>C	6.37:g.96034471T>C			A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Silent	SNP	superfamily_Glycoside_hydrolase_SF	p.T52	ENST00000358812.4	37	c.156	CCDS5032.1	6																																																																																			MANEA	-	NULL	ENSG00000172469		0.343	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	HGNC	protein_coding	OTTHUMT00000043644.1	-	0	115	0	T	NM_024641		96034471	1	tier1	-	no_errors	ENST00000358812	ensembl	human	known	74_37	silent	11.22	87	11	SNP	0.000	C	C	96034471	T	C	96034471	2	2	152	1	0	0	0	0	0	0	0	1	9259	1509	53	4		4	MANEA	6	96034471	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	12194516	96034471	75080596	123	38728											
REV3L	5980	genome.wustl.edu	37	chr6	111695260	111695260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgctttgactgttccGctatgcacacaatctgctgc	7	13	8	13	1	1	1	0	1	1	0	2	1	2	1	1	0	4	5	1	0	2	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:111695260G>T	ENST00000358835.3	-	14	4752	c.4298C>A	c.(4297-4299)gCg>gAg	p.A1433E	REV3L_ENST00000368805.1_Missense_Mutation_p.A1433E|REV3L_ENST00000435970.1_Missense_Mutation_p.A1355E|REV3L_ENST00000368802.3_Missense_Mutation_p.A1433E			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1433					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)		TGACTGTTCCGCTATGCACAC	0.413								DNA polymerases (catalytic subunits)																																									0													163	143	150					6																	111695260		2203	4300	6503	SO:0001583	missense	0			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.4298C>A	6.37:g.111695260G>T	ENSP00000351697:p.Ala1433Glu		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.A1433E	ENST00000358835.3	37	c.4298	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662450	0.29515	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01495	4.92;4.92;4.92;4.83	6.03	5.15	0.70609	Ribonuclease H-like (1);	4.375660	0.00890	N	0.002223	T	0.01061	0.0035	L	0.34521	1.04	0.28434	N	0.917132	P	0.41524	0.753	B	0.33846	0.171	T	0.56733	-0.7930	10	0.62326	D	0.03	-2.0587	17.2338	0.86992	0.0:0.1258:0.8742:0.0	.	1433	O60673	DPOLZ_HUMAN	E	1433;1433;1433;1355	ENSP00000357792:A1433E;ENSP00000357795:A1433E;ENSP00000351697:A1433E;ENSP00000402003:A1355E	ENSP00000351697:A1433E	A	-	2	0	REV3L	111801953	1.000000	0.71417	0.977000	0.42913	0.645000	0.38454	3.808000	0.55598	1.515000	0.48885	0.557000	0.71058	GCG	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.413	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1		0	81	0	G	NM_002912		111695260	-1			no_errors	ENST00000358835	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.988	T	T	111695260	G	T	111695260	3	4	152	1	0	0	0	0	1	0	0	0	13285	1087	38	2	5174	2	REV3L	6	111695260	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	15660789	111695260	59419807	124	38729											
TPD52L1	7164	genome.wustl.edu	37	chr6	125583983	125583983	+	Missense_Mutation	SNP	A	A	G	1	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	ggatctgctcatttcagacgAaagtaggcggtacgaaccct	11	9	11	10	3	3	1	2	0	1	1	3	4	3	2	1	3	3	3	1	3	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:125583983A>G	ENST00000534000.1	+	7	786	c.490A>G	c.(490-492)Aaa>Gaa	p.K164E	TPD52L1_ENST00000368402.5_Silent_p.R143R|TPD52L1_ENST00000532429.1_Missense_Mutation_p.K135E|TPD52L1_ENST00000392482.2_Silent_p.R101R|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000527711.1_Missense_Mutation_p.K151E|TPD52L1_ENST00000368388.2_Silent_p.R130R|TPD52L1_ENST00000524679.1_Silent_p.R101R|TPD52L1_ENST00000304877.13_Missense_Mutation_p.K169E|TPD52L1_ENST00000534199.1_Silent_p.R101R|HDDC2_ENST00000608456.1_Intron	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	164					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		ATTTCAGACGAAAGTAGGCGG	0.463																																																	0													77	71	73					6																	125583983		2203	4300	6503	SO:0001583	missense	0			U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.490A>G	6.37:g.125583983A>G	ENSP00000434142:p.Lys164Glu		A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	pfam_TPD52	p.K164E	ENST00000534000.1	37	c.490	CCDS5130.1	6	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514856	0.85389	.	.	ENSG00000111907	ENST00000304877;ENST00000534000;ENST00000527711;ENST00000532429;ENST00000392484	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.8	5.8	0.92144	.	0.044613	0.85682	D	0.000000	T	0.48352	0.1495	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.55309	-0.8161	9	0.87932	D	0	-21.8727	13.6691	0.62414	1.0:0.0:0.0:0.0	.	164	Q16890	TPD53_HUMAN	E	169;164;151;135;164	ENSP00000306285:K169E;ENSP00000434142:K164E;ENSP00000436953:K151E;ENSP00000435447:K135E	ENSP00000306285:K169E	K	+	1	0	TPD52L1	125625682	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.716000	0.68437	2.221000	0.72209	0.528000	0.53228	AAA	TPD52L1	-	pfam_TPD52	ENSG00000111907		0.463	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPD52L1	HGNC	protein_coding	OTTHUMT00000042065.2	-	0	76	0	A			125583983	1	tier1	-	no_errors	ENST00000534000	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	G	G	125583983	A	G	125583983	3	3	152	1	0	0	0	0	1	0	0	0	16446	247	9	4	516	4	TPD52L1	6	125583983	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	13888723	125583983	45531084	125	38730											
SLC2A12	154091	genome.wustl.edu	37	chr6	134350159	134350159	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttgtcttttgaacgaaaCagatcccaaaaactgtactg	14	12	7	8	1	1	2	0	1	1	1	2	3	2	2	1	0	4	2	1	0	5	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:134350159C>G	ENST00000275230.5	-	2	959	c.804G>C	c.(802-804)ctG>ctC	p.L268L		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	268					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TTGAACGAAACAGATCCCAAA	0.388																																					Melanoma(122;1663 1672 14489 35294 41228)												0													88	84	86					6																	134350159		2203	4300	6503	SO:0001819	synonymous_variant	0			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.804G>C	6.37:g.134350159C>G			B3KV17|Q7Z6U3|Q96MR8	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.L268	ENST00000275230.5	37	c.804	CCDS5169.1	6																																																																																			SLC2A12	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146411		0.388	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1	-	0	86	0	C			134350159	-1	tier1	-	no_errors	ENST00000275230	ensembl	human	known	74_37	silent	38.71	35	24	SNP	1.000	G	G	134350159	C	G	134350159	2	3	152	1	0	0	0	0	0	0	0	1	14586	465	17	5		5	SLC2A12	6	134350159	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	8766176	134350159	36764908	126	38731											
SYNE1	23345	genome.wustl.edu	37	chr6	152545633	152545633	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaattaattccttacctgaAgattgtccacctgaacttgc	12	14	5	10	0	0	3	0	2	0	1	2	3	2	3	4	0	3	0	4	0	6	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:152545633A>C	ENST00000367255.5	-	117	22119	c.21518T>G	c.(21517-21519)cTt>cGt	p.L7173R	SYNE1_ENST00000341594.5_Missense_Mutation_p.L6785R|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7102R|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7173R|SYNE1_ENST00000356820.4_Missense_Mutation_p.L1697R|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7102R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7173					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)		CCTTACCTGAAGATTGTCCAC	0.383										HNSCC(10;0.0054)																																							0													88	83	84					6																	152545633		2203	4300	6503	SO:0001583	missense	0			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.21518T>G	6.37:g.152545633A>C	ENSP00000356224:p.Leu7173Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L7173R	ENST00000367255.5	37	c.21518	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567175	0.86439	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.73	5.73	0.89815	.	0.000000	0.52532	D	0.000079	T	0.64494	0.2603	M	0.77103	2.36	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	0.69228	-0.5200	10	0.66056	D	0.02	.	16.3123	0.82883	1.0:0.0:0.0:0.0	.	7173;7173;7102;7102	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	R	7173;7102;7173;7102;6785;1697;95	ENSP00000356224:L7173R;ENSP00000396024:L7102R;ENSP00000265368:L7173R;ENSP00000390975:L7102R;ENSP00000341887:L6785R;ENSP00000349276:L1697R;ENSP00000356220:L95R	ENSP00000265368:L7173R	L	-	2	0	SYNE1	152587326	1.000000	0.71417	0.984000	0.44739	0.923000	0.55619	8.910000	0.92685	2.308000	0.77769	0.533000	0.62120	CTT	SYNE1	-	pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	82	0	A	NM_182961		152545633	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	21.92	57	16	SNP	1.000	C	C	152545633	A	C	152545633	3	2	152	1	0	0	0	0	1	0	0	0	15492	72	3	4	5068	4	SYNE1	6	152545633	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	18195474	152545633	18569434	127	38732											
SYNE1	23345	genome.wustl.edu	37	chr6	152552690	152552690	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgtttacagttaatgtCtatcttaaaaccctaaaaaa	16	13	4	8	0	2	0	0	0	2	0	2	0	2	0	1	0	3	3	1	0	8	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:152552690C>G	ENST00000367255.5	-	114	21476	c.20875G>C	c.(20875-20877)Gac>Cac	p.D6959H	SYNE1_ENST00000341594.5_Missense_Mutation_p.D6571H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D6888H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6959H|SYNE1_ENST00000356820.4_Missense_Mutation_p.D1483H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D6888H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6959					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)		CAGTTAATGTCTATCTTAAAA	0.343										HNSCC(10;0.0054)																																							0													62	58	59					6																	152552690		2203	4300	6503	SO:0001583	missense	0			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.20875G>C	6.37:g.152552690C>G	ENSP00000356224:p.Asp6959His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D6959H	ENST00000367255.5	37	c.20875	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827299	0.90955	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.60920	0.24;0.24;0.15;0.24;0.39;2.28	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000004	T	0.74627	0.3741	M	0.73962	2.25	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	0.75062	-0.3450	10	0.72032	D	0.01	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	6959;6959;6888	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	H	6959;6888;6959;6888;6571;1483	ENSP00000356224:D6959H;ENSP00000396024:D6888H;ENSP00000265368:D6959H;ENSP00000390975:D6888H;ENSP00000341887:D6571H;ENSP00000349276:D1483H	ENSP00000265368:D6959H	D	-	1	0	SYNE1	152594383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.090000	0.71397	2.854000	0.98071	0.655000	0.94253	GAC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	66	0	C	NM_182961		152552690	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	20.34	47	12	SNP	1.000	G	G	152552690	C	G	152552690	3	3	152	1	0	0	0	0	1	0	0	0	15492	913	32	5	5723	5	SYNE1	6	152552690	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	7057	152552690	18562377	128	38733											
SYNE1	23345	genome.wustl.edu	37	chr6	152639329	152639329	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttggccattctgttccaAgaatttctgtactgctgcat	8	15	8	10	0	2	1	0	0	2	1	3	1	3	1	2	1	3	5	2	1	3	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:152639329A>C	ENST00000367255.5	-	86	17060	c.16459T>G	c.(16459-16461)Ttg>Gtg	p.L5487V	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5416V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5487V|SYNE1_ENST00000356820.4_Missense_Mutation_p.L11V|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5416V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5487					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)		TTCTGTTCCAAGAATTTCTGT	0.433										HNSCC(10;0.0054)																																							0													175	155	162					6																	152639329		2203	4300	6503	SO:0001583	missense	0			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.16459T>G	6.37:g.152639329A>C	ENSP00000356224:p.Leu5487Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L5487V	ENST00000367255.5	37	c.16459	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	9.637	1.137873	0.21123	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000356820	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.66	4.45	0.53987	.	0.377447	0.22827	N	0.055149	T	0.03739	0.0106	N	0.01874	-0.695	0.19300	N	0.999971	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	0.38650	-0.9651	10	0.11485	T	0.65	.	6.1609	0.20364	0.588:0.2097:0.0:0.2023	.	5487;5487;5487;5416	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	5487;5416;5487;5416;11	ENSP00000356224:L5487V;ENSP00000396024:L5416V;ENSP00000265368:L5487V;ENSP00000390975:L5416V;ENSP00000349276:L11V	ENSP00000265368:L5487V	L	-	1	2	SYNE1	152681022	1.000000	0.71417	0.892000	0.35008	0.627000	0.37826	1.091000	0.30915	2.156000	0.67533	0.533000	0.62120	TTG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	71	0	A	NM_182961		152639329	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	52.83	25	28	SNP	0.983	C	C	152639329	A	C	152639329	3	2	152	1	0	0	0	0	1	0	0	0	15492	69	3	4	10251	4	SYNE1	6	152639329	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	86639	152639329	18475738	129	38734											
C6orf118	168090	genome.wustl.edu	37	chr6	165715286	165715286	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtcgggcagccggagttcTtccctcctgcgccatccagg	6	8	12	15	3	1	0	0	0	1	0	5	1	4	1	5	3	2	2	5	3	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr6:165715286T>C	ENST00000230301.8	-	2	545	c.525A>G	c.(523-525)gaA>gaG	p.E175E	C6orf118_ENST00000543069.1_Silent_p.E71E	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	175										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCCGGAGTTCTTCCCTCCTGC	0.632																																																	0													37	43	41					6																	165715286		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.525A>G	6.37:g.165715286T>C			Q8TC11	Silent	SNP	superfamily_Ribonuclease/ribotoxin	p.E175	ENST00000230301.8	37	c.525	CCDS5288.1	6																																																																																			C6orf118	-	superfamily_Ribonuclease/ribotoxin	ENSG00000112539		0.632	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	-	0	53	0	T	NM_144980		165715286	-1	tier1	-	no_errors	ENST00000230301	ensembl	human	known	74_37	silent	63.64	12	21	SNP	0.069	C	C	165715286	T	C	165715286	2	2	152	1	0	0	0	0	0	0	0	1	2330	1606	56	4		4	C6orf118	6	165715286	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	13075957	165715286	5399781	130	38735											
TMEM195	392636	genome.wustl.edu	37	chr7	15430475	15430475	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttacttaccaaaaattttAtcccaaataataagaacacc	18	13	1	9	0	0	1	0	0	0	1	1	1	1	1	3	0	3	0	3	0	9	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:15430475A>C	ENST00000342526.3	-	7	901	c.732T>G	c.(730-732)gaT>gaG	p.D244E		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	244					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CAAAAATTTTATCCCAAATAA	0.254																																																	0													32	35	34					7																	15430475		2179	4270	6449	SO:0001583	missense	0				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.732T>G	7.37:g.15430475A>C	ENSP00000341662:p.Asp244Glu		A4D114|A6NCH5	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.D244E	ENST00000342526.3	37	c.732	CCDS34604.1	7	.	.	.	.	.	.	.	.	.	.	A	18.57	3.651626	0.67472	.	.	ENSG00000187546	ENST00000342526	D	0.95069	-3.6	5.33	0.234	0.15390	.	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	H	0.95224	3.64	0.42933	D	0.99432	D	0.89917	1.0	D	0.91635	0.999	D	0.96458	0.9339	10	0.87932	D	0	-26.461	10.0992	0.42493	0.5613:0.0:0.4387:0.0	.	244	Q6ZNB7	ALKMO_HUMAN	E	244	ENSP00000341662:D244E	ENSP00000341662:D244E	D	-	3	2	AGMO	15397000	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.076000	0.30729	-0.117000	0.11872	0.482000	0.46254	GAT	AGMO	-	NULL	ENSG00000187546		0.254	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMO	HGNC	protein_coding	OTTHUMT00000326049.2	-	0	162	0	A	NM_001004320		15430475	-1	tier1	-	no_errors	ENST00000342526	ensembl	human	known	74_37	missense	17.26	163	34	SNP	0.998	C	C	15430475	A	C	15430475	3	2	152	1	0	0	0	0	1	0	0	0	16164	446	16	4	633	4	TMEM195	7	15430475	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09		15430475	143708188	131	38736											
DNAH11	8701	genome.wustl.edu	37	chr7	21818598	21818598	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagatctaaaagccagacTtgcctctcaagaagccgagc	13	6	11	11	1	2	3	1	0	2	3	3	5	2	3	3	1	4	0	3	1	4	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:21818598T>C	ENST00000409508.3	+	57	9390	c.9359T>C	c.(9358-9360)cTt>cCt	p.L3120P	DNAH11_ENST00000328843.6_Missense_Mutation_p.L3127P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3127	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGCCAGACTTGCCTCTCAA	0.468									Kartagener syndrome																																								0													81	79	80					7																	21818598		1918	4123	6041	SO:0001583	missense	0	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.9359T>C	7.37:g.21818598T>C	ENSP00000475939:p.Leu3120Pro		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3127P	ENST00000409508.3	37	c.9380		7	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035715	0.75617	.	.	ENSG00000105877	ENST00000328843	D	0.81908	-1.55	6.03	6.03	0.97812	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92446	0.5966	9	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	3127	Q96DT5	DYH11_HUMAN	P	3127	ENSP00000330671:L3127P	ENSP00000330671:L3127P	L	+	2	0	DNAH11	21785123	1.000000	0.71417	0.876000	0.34364	0.920000	0.55202	7.698000	0.84413	2.308000	0.77769	0.533000	0.62120	CTT	DNAH11	-	NULL	ENSG00000105877		0.468	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	77	0	T	NM_003777		21818598	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	16.33	82	16	SNP	0.999	C	C	21818598	T	C	21818598	3	2	152	1	0	0	0	0	1	0	0	0	4613	1609	56	4	9607	4	DNAH11	7	21818598	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	6388123	21818598	137320065	132	38737											
CCDC129	223075	genome.wustl.edu	37	chr7	31592728	31592728	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtgcaccaaaagcgcGtgggctccgctggatgagtg	9	7	15	10	3	0	2	0	2	0	0	1	3	1	3	2	2	2	3	2	2	3	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:31592728G>A	ENST00000407970.3	+	2	128	c.90G>A	c.(88-90)gcG>gcA	p.A30A	CCDC129_ENST00000409210.1_5'Flank|CCDC129_ENST00000482748.1_Intron|CCDC129_ENST00000451887.2_Silent_p.A56A|CCDC129_ENST00000319386.3_Silent_p.A30A	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	30										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCAAAAGCGCGTGGGCTCCGC	0.537																																																	0													87	66	73					7																	31592728		2203	4300	6503	SO:0001819	synonymous_variant	0			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.90G>A	7.37:g.31592728G>A			A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	NULL	p.A56	ENST00000407970.3	37	c.168	CCDS5435.2	7																																																																																			CCDC129	-	NULL	ENSG00000180347		0.537	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	-	0	82	0	G	NM_194300		31592728	1	tier1	-	no_errors	ENST00000451887	ensembl	human	known	74_37	silent	13.39	110	17	SNP	0.002	A	A	31592728	G	A	31592728	2	1	152	1	0	0	0	0	0	0	0	1	2771	1132	40	1		1	CCDC129	7	31592728	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	9774130	31592728	127545935	133	38738											
ZNF679	168417	genome.wustl.edu	37	chr7	63721262	63721262	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctggagcaaaataaaGagccttggaatataaagaga	17	8	10	6	0	1	2	0	0	1	2	1	5	1	4	2	2	2	1	2	2	8	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:63721262G>T	ENST00000421025.1	+	4	486	c.217G>T	c.(217-219)Gag>Tag	p.E73*	ZNF679_ENST00000255746.4_Nonsense_Mutation_p.E73*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	73	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(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GCAAAATAAAGAGCCTTGGAA	0.378																																																	0													121	109	113					7																	63721262		692	1591	2283	SO:0001587	stop_gained	0			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.217G>T	7.37:g.63721262G>T	ENSP00000416809:p.Glu73*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E73*	ENST00000421025.1	37	c.217	CCDS47592.1	7	.	.	.	.	.	.	.	.	.	.	G	8.575	0.880954	0.17467	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	.	.	.	.	.	.	.	X	73	.	ENSP00000255746:E73X	E	+	1	0	ZNF679	63358697	0.303000	0.24463	0.027000	0.17364	0.031000	0.12232	1.500000	0.35682	0.308000	0.22923	0.313000	0.20887	GAG	ZNF679	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197123		0.378	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	HGNC	protein_coding	OTTHUMT00000344317.2	-	0	162	0	G	NM_153363		63721262	1	tier1	-	no_errors	ENST00000255746	ensembl	human	known	74_37	nonsense	33.08	89	44	SNP	0.035	T	T	63721262	G	T	63721262	4	4	152	1	0	0	0	0	0	1	0	0	18134	943	33	3	227	3	ZNF679	7	63721262	Nonsense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	32128534	63721262	95417401	134	38739											
ZNF804B	219578	genome.wustl.edu	37	chr7	88964841	88964841	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccacctaattgccagggaActcagcacgacagattggac	14	6	9	12	1	1	1	1	0	0	1	1	4	1	3	3	2	4	1	3	2	3	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:88964841A>C	ENST00000333190.4	+	4	3154	c.2545A>C	c.(2545-2547)Act>Cct	p.T849P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	849							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGCCAGGGAACTCAGCACGA	0.383										HNSCC(36;0.09)																																							0													61	60	60					7																	88964841		2202	4298	6500	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2545A>C	7.37:g.88964841A>C	ENSP00000329638:p.Thr849Pro		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.T849P	ENST00000333190.4	37	c.2545	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	A	1.400	-0.578312	0.03854	.	.	ENSG00000182348	ENST00000333190	T	0.04809	3.55	5.19	-1.32	0.09201	.	0.724907	0.13136	N	0.411029	T	0.01421	0.0046	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45644	-0.9247	10	0.27785	T	0.31	-0.2294	0.0849	0.00035	0.2679:0.1944:0.2459:0.2918	.	849	A4D1E1	Z804B_HUMAN	P	849	ENSP00000329638:T849P	ENSP00000329638:T849P	T	+	1	0	ZNF804B	88802777	0.000000	0.05858	0.019000	0.16419	0.021000	0.10359	0.319000	0.19522	0.052000	0.16007	-1.046000	0.02355	ACT	ZNF804B	-	NULL	ENSG00000182348		0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	94	0	A	NM_181646		88964841	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	17.98	73	16	SNP	0.000	C	C	88964841	A	C	88964841	3	2	152	1	0	0	0	0	1	0	0	0	18219	43	2	4	2559	4	ZNF804B	7	88964841	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	25243579	88964841	70173822	135	38740											
ZNF804B	219578	genome.wustl.edu	37	chr7	88965052	88965052	+	Missense_Mutation	SNP	A	A	G	1	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	atcaaacactgcagaaggagAgaggacccctctaacagcaa	17	4	9	11	0	2	2	1	0	1	2	2	5	2	4	2	2	4	2	2	2	4	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:88965052A>G	ENST00000333190.4	+	4	3365	c.2756A>G	c.(2755-2757)gAg>gGg	p.E919G		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	919							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCAGAAGGAGAGAGGACCCCT	0.423										HNSCC(36;0.09)																																							0													100	106	104					7																	88965052		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2756A>G	7.37:g.88965052A>G	ENSP00000329638:p.Glu919Gly		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.E919G	ENST00000333190.4	37	c.2756	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071276	0.36566	.	.	ENSG00000182348	ENST00000333190	T	0.06371	3.31	5.34	4.2	0.49525	.	0.452101	0.22827	N	0.055150	T	0.06142	0.0159	L	0.32530	0.975	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.27640	-1.0068	10	0.66056	D	0.02	-0.9433	9.8952	0.41314	0.8583:0.0:0.1417:0.0	.	919	A4D1E1	Z804B_HUMAN	G	919	ENSP00000329638:E919G	ENSP00000329638:E919G	E	+	2	0	ZNF804B	88802988	1.000000	0.71417	0.017000	0.16124	0.004000	0.04260	4.416000	0.59815	1.059000	0.40554	-0.250000	0.11733	GAG	ZNF804B	-	NULL	ENSG00000182348		0.423	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	113	0	A	NM_181646		88965052	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	16.52	96	19	SNP	0.009	G	G	88965052	A	G	88965052	3	3	152	1	0	0	0	0	1	0	0	0	18219	304	11	4	2770	4	ZNF804B	7	88965052	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	211	88965052	70173611	136	38741											
COL1A2	1278	genome.wustl.edu	37	chr7	94049564	94049564	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcgaagctggggctgctgGtcctgctggtcctgctggtc	2	10	18	11	1	0	0	0	0	0	0	3	1	2	0	2	6	4	5	2	6	1	0	rs72658161|rs72658162		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:94049564G>C	ENST00000297268.6	+	35	2570	c.2099G>C	c.(2098-2100)gGt>gCt	p.G700A		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	700			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		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)	GGGGctgctggtcctgctggt	0.493										HNSCC(75;0.22)																																							0			GRCh37	CM070828	COL1A2	M	rs72658161						123	120	121					7																	94049564		2203	4300	6503	SO:0001583	missense	0			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.2099G>C	7.37:g.94049564G>C	ENSP00000297268:p.Gly700Ala		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	p.G700A	ENST00000297268.6	37	c.2099	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914561	0.72983	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99329	-5.75	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.95917	3.74	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97859	1.0279	10	0.87932	D	0	.	20.5276	0.99231	0.0:0.0:1.0:0.0	.	700	P08123	CO1A2_HUMAN	A	700;701	ENSP00000297268:G700A	ENSP00000297268:G700A	G	+	2	0	COL1A2	93887500	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	8.891000	0.92485	2.937000	0.99478	0.650000	0.86243	GGT	COL1A2	-	NULL	ENSG00000164692		0.493	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	-	0	128	0	G	NM_000089		94049564	1	tier1	-	no_errors	ENST00000297268	ensembl	human	known	74_37	missense	11.58	84	11	SNP	1.000	C	C	94049564	G	C	94049564	3	2	152	1	0	0	0	0	1	0	0	0	3685	1261	44	5	2237	5	COL1A2	7	94049564	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	5084512	94049564	65089099	137	38742											
CASD1	64921	genome.wustl.edu	37	chr7	94162522	94162522	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcttcctttaggattcCattgcaaagccacatgtgat	9	16	7	9	0	1	1	0	1	1	0	3	2	3	2	3	1	2	1	3	1	2	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:94162522C>A	ENST00000297273.4	+	6	752	c.465C>A	c.(463-465)tcC>tcA	p.S155S		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	155						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTAGGATTCCATTGCAAAGC	0.313																																																	0													93	90	91					7																	94162522		2203	4297	6500	SO:0001819	synonymous_variant	0			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.465C>A	7.37:g.94162522C>A			B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Silent	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.S155	ENST00000297273.4	37	c.465	CCDS5636.1	7																																																																																			CASD1	-	superfamily_Cyclin-like	ENSG00000127995		0.313	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1		0	70	0	C	NM_022900		94162522	1			no_errors	ENST00000297273	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.994	A	A	94162522	C	A	94162522	2	1	152	1	0	0	0	0	0	0	0	1	2671	581	21	3		3	CASD1	7	94162522	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	112958	94162522	64976141	138	38743											
SRPK2	6733	genome.wustl.edu	37	chr7	104758331	104758331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcattcgccagctgaggctCgtttttctggaaccatttct	6	14	10	11	2	2	1	0	1	2	0	4	2	2	2	2	3	2	4	2	3	1	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:104758331C>T	ENST00000393651.3	-	16	2141	c.2054G>A	c.(2053-2055)cGa>cAa	p.R685Q	SRPK2_ENST00000493638.1_5'Flank|SRPK2_ENST00000489828.1_Missense_Mutation_p.R674Q|SRPK2_ENST00000357311.3_Missense_Mutation_p.R674Q	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						AGCTGAGGCTCGTTTTTCTGG	0.443																																																	0													73	71	72					7																	104758331		2203	4300	6503	SO:0001583	missense	0			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.2054G>A	7.37:g.104758331C>T	ENSP00000377262:p.Arg685Gln			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R685Q	ENST00000393651.3	37	c.2054	CCDS34724.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.940541|4.940541	0.92526|0.92526	.|.	.|.	ENSG00000135250|ENSG00000135250	ENST00000474770|ENST00000393651;ENST00000357311;ENST00000489828	.|T;T;T	.|0.71461	.|-0.57;-0.57;-0.57	5.96|5.96	5.96|5.96	0.96718|0.96718	.|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|D	0.92381|0.92381	0.7582|0.7582	H|H	0.99719|0.99719	4.725|4.725	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.997	D|D	0.95175|0.95175	0.8294|0.8294	5|10	.|0.87932	.|D	.|0	-8.2898|-8.2898	20.4008|20.4008	0.98991|0.98991	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|685;674	.|P78362-2;P78362	.|.;SRPK2_HUMAN	K|Q	190|685;674;674	.|ENSP00000377262:R685Q;ENSP00000349863:R674Q;ENSP00000419791:R674Q	.|ENSP00000349863:R674Q	E|R	-|-	1|2	0|0	SRPK2|SRPK2	104545567|104545567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAG|CGA	SRPK2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000135250		0.443	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1		0	46	0	C	NM_182691		104758331	-1			no_errors	ENST00000393651	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	104758331	C	T	104758331	3	4	152	1	0	0	0	0	1	0	0	0	15207	884	31	1	49	1	SRPK2	7	104758331	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	10595809	104758331	54380332	139	38744											
LRRN3	54674	genome.wustl.edu	37	chr7	110762847	110762847	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaggacatgccactcCgaattcatgtgctacttggc	11	10	10	10	1	1	2	1	1	0	1	2	4	2	3	2	2	3	1	2	2	3	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:110762847C>A	ENST00000422987.3	+	2	850	c.19C>A	c.(19-21)Cga>Aga	p.R7R	IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000451085.1_Silent_p.R7R|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Silent_p.R7R|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	7					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CATGCCACTCCGAATTCATGT	0.423																																																	0													114	101	105					7																	110762847		2203	4300	6503	SO:0001819	synonymous_variant	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.19C>A	7.37:g.110762847C>A			O43377|Q6I9V8|Q8IYQ6	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R7	ENST00000422987.3	37	c.19	CCDS5754.1	7																																																																																			LRRN3	-	NULL	ENSG00000173114		0.423	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	-	0	43	0	C	NM_018334		110762847	1	tier1	-	no_errors	ENST00000308478	ensembl	human	known	74_37	silent	40.54	22	15	SNP	0.974	A	A	110762847	C	A	110762847	2	1	152	1	0	0	0	0	0	0	0	1	9071	644	23	2		2	LRRN3	7	110762847	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	6004516	110762847	48375816	140	38745											
DGKI	9162	genome.wustl.edu	37	chr7	137128842	137128842	+	Silent	SNP	T	T	C	0	1	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	ccatgatcttctgaagagacTggtgacctaaaaggaaataa	16	9	9	7	0	2	4	0	3	2	1	2	6	2	5	2	2	0	0	2	2	5	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:137128842T>C	ENST00000288490.5	-	29	2766	c.2766A>G	c.(2764-2766)ccA>ccG	p.P922P	DGKI_ENST00000453654.2_Silent_p.P591P|DGKI_ENST00000424189.2_Silent_p.P935P|DGKI_ENST00000446122.1_Silent_p.P904P|DGKI_ENST00000494390.1_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	922					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGAAGAGACTGGTGACCTAA	0.299																																																	0													56	54	55					7																	137128842		2201	4300	6501	SO:0001819	synonymous_variant	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2766A>G	7.37:g.137128842T>C			A4D1Q9|Q9NZ49	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P922	ENST00000288490.5	37	c.2766	CCDS5845.1	7																																																																																			DGKI	-	NULL	ENSG00000157680		0.299	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0	205	0	T	NM_004717		137128842	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	silent	19.67	145	36	SNP	1.000	C	C	137128842	T	C	137128842	2	2	152	1	0	0	0	0	0	0	0	1	4485	1567	55	4		4	DGKI	7	137128842	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	26365995	137128842	22009821	141	38746											
CLCN1	1180	genome.wustl.edu	37	chr7	143028688	143028688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttgtgtatctgcatcGccaagtcatgctcggtgtcc	6	15	10	10	2	2	0	1	0	1	0	5	0	3	0	2	1	2	4	2	1	3	3	rs143009041		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:143028688G>T	ENST00000343257.2	+	10	1196	c.1109G>T	c.(1108-1110)cGc>cTc	p.R370L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	370					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)					TATCTGCATCGCCAAGTCATG	0.478																																																	0													135	120	125					7																	143028688		2203	4300	6503	SO:0001583	missense	0			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.1109G>T	7.37:g.143028688G>T	ENSP00000339867:p.Arg370Leu		A4D2H5|Q2M202	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.R370L	ENST00000343257.2	37	c.1109	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.438327	0.96168	.	.	ENSG00000188037	ENST00000343257	D	0.92099	-2.97	5.12	5.12	0.69794	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.94683	0.8285	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94903	0.8058	10	0.56958	D	0.05	.	18.5517	0.91068	0.0:0.0:1.0:0.0	.	370	P35523	CLCN1_HUMAN	L	370	ENSP00000339867:R370L	ENSP00000339867:R370L	R	+	2	0	CLCN1	142738810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.243000	0.95416	2.398000	0.81561	0.637000	0.83480	CGC	CLCN1	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000188037		0.478	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	-	0	69	0	G	NM_000083		143028688	1	tier1	-	no_errors	ENST00000343257	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	143028688	G	T	143028688	3	4	152	1	0	0	0	0	1	0	0	0	3469	1087	38	2	1147	2	CLCN1	7	143028688	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	5899846	143028688	16109975	142	38747											
TAS2R60	338398	genome.wustl.edu	37	chr7	143140865	143140865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacttcctgaatgctgccaCcttatggtcctctacctggc	6	12	9	14	0	1	1	0	1	1	0	3	2	3	2	5	3	3	1	5	3	3	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:143140865C>A	ENST00000332690.1	+	1	320	c.320C>A	c.(319-321)aCc>aAc	p.T107N	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	107					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					AATGCTGCCACCTTATGGTCC	0.478																																																	0													179	158	165					7																	143140865		2203	4300	6503	SO:0001583	missense	0			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.320C>A	7.37:g.143140865C>A	ENSP00000327724:p.Thr107Asn		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.T107N	ENST00000332690.1	37	c.320	CCDS5885.1	7	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794074	0.31777	.	.	ENSG00000185899	ENST00000332690	T	0.37411	1.2	5.59	4.71	0.59529	.	0.378221	0.22565	U	0.058412	T	0.51126	0.1656	L	0.51422	1.61	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.40021	-0.9585	10	0.49607	T	0.09	.	10.5942	0.45327	0.0:0.9114:0.0:0.0886	.	107	P59551	T2R60_HUMAN	N	107	ENSP00000327724:T107N	ENSP00000327724:T107N	T	+	2	0	TAS2R60	142850987	0.001000	0.12720	0.024000	0.17045	0.025000	0.11179	0.495000	0.22483	1.369000	0.46134	0.655000	0.94253	ACC	TAS2R60	-	pfam_TAS2_rcpt	ENSG00000185899		0.478	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R60	HGNC	protein_coding	OTTHUMT00000337541.1	-	0	28	0	C			143140865	1	tier1	-	no_errors	ENST00000332690	ensembl	human	known	74_37	missense	43.75	27	21	SNP	0.036	A	A	143140865	C	A	143140865	3	1	152	1	0	0	0	0	1	0	0	0	15632	507	18	3	322	3	TAS2R60	7	143140865	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	112177	143140865	15997798	143	38748											
OR6B1	135946	genome.wustl.edu	37	chr7	143701314	143701314	+	Silent	SNP	T	T	C	0	1	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	ttggagacctggtacatctcTgtgactgtgcccaagttact	8	13	10	10	0	1	2	0	1	1	1	2	3	1	2	2	2	3	2	2	2	3	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr7:143701314T>C	ENST00000408922.2	+	1	293	c.225T>C	c.(223-225)tcT>tcC	p.S75S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGTACATCTCTGTGACTGTGC	0.448																																																	0													142	142	142					7																	143701314		2104	4262	6366	SO:0001819	synonymous_variant	0				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.225T>C	7.37:g.143701314T>C			A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S75	ENST00000408922.2	37	c.225	CCDS43667.1	7																																																																																			OR6B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221813		0.448	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	-	0	79	0	T			143701314	1	tier1	-	no_errors	ENST00000408922	ensembl	human	known	74_37	silent	15.38	77	14	SNP	0.017	C	C	143701314	T	C	143701314	2	2	152	1	0	0	0	0	0	0	0	1	11226	1567	55	4		4	OR6B1	7	143701314	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	560449	143701314	15437349	144	38749											
CSMD1	64478	genome.wustl.edu	37	chr8	3565977	3565977	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccttgctgggcagcatcTtgactcctcttgacttcaac	7	13	7	14	0	3	2	1	2	2	0	5	2	5	2	2	1	3	3	2	1	1	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:3565977T>G	ENST00000520002.1	-	7	1523	c.968A>C	c.(967-969)aAg>aCg	p.K323T	CSMD1_ENST00000400186.3_Missense_Mutation_p.K323T|CSMD1_ENST00000542608.1_Missense_Mutation_p.K323T|CSMD1_ENST00000602723.1_Missense_Mutation_p.K323T|CSMD1_ENST00000602557.1_Missense_Mutation_p.K323T|CSMD1_ENST00000539096.1_Missense_Mutation_p.K323T|CSMD1_ENST00000537824.1_Missense_Mutation_p.K323T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	323						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)		GGGCAGCATCTTGACTCCTCT	0.433																																																	0													101	100	100					8																	3565977		1987	4177	6164	SO:0001583	missense	0					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.968A>C	8.37:g.3565977T>G	ENSP00000430733:p.Lys323Thr		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.K323T	ENST00000520002.1	37	c.968		8	.	.	.	.	.	.	.	.	.	.	T	23.9	4.468425	0.84533	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.54	5.54	0.83059	.	.	.	.	.	D	0.91666	0.7366	L	0.55990	1.75	0.37219	D	0.905163	P	0.50528	0.936	P	0.61201	0.885	D	0.92012	0.5619	9	0.33141	T	0.24	.	14.2483	0.66001	0.0:0.0:0.0:1.0	.	323	E5RIG2	.	T	323;323;185;323;323;323	ENSP00000383047:K323T;ENSP00000430733:K323T;ENSP00000441462:K323T;ENSP00000446243:K323T;ENSP00000441675:K323T	ENSP00000320445:K185T	K	-	2	0	CSMD1	3553385	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.292000	0.72725	2.087000	0.62958	0.528000	0.53228	AAG	CSMD1	-	NULL	ENSG00000183117		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	46	0	T	NM_033225		3565977	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	G	G	3565977	T	G	3565977	3	3	152	1	0	0	0	0	1	0	0	0	3953	1609	56	4	9795	4	CSMD1	8	3565977	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09		3565977	142798045	145	38750											
SLC39A14	23516	genome.wustl.edu	37	chr8	22262237	22262237	+	Missense_Mutation	SNP	T	T	A	0	1	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	agtcaccatgaagctgctgcTgctgcacccggccttccaga	8	8	10	15	1	1	2	1	1	0	1	2	2	2	2	4	1	5	5	4	1	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:22262237T>A	ENST00000381237.1	+	2	133	c.14T>A	c.(13-15)cTg>cAg	p.L5Q	SLC39A14_ENST00000240095.6_Missense_Mutation_p.L5Q|SLC39A14_ENST00000289952.5_Missense_Mutation_p.L5Q|SLC39A14_ENST00000359741.5_Missense_Mutation_p.L5Q	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	5					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		AAGCTGCTGCTGCTGCACCCG	0.617																																																	0													65	82	76					8																	22262237		2197	4300	6497	SO:0001583	missense	0			D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"Solute carriers"	20858	protein-coding gene	gene with protein product		608736	"solute carrier family 39 (metal ion transporter), member 14"			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.14T>A	8.37:g.22262237T>A	ENSP00000370635:p.Leu5Gln		A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	pfam_ZIP	p.L5Q	ENST00000381237.1	37	c.14	CCDS47823.1	8	.	.	.	.	.	.	.	.	.	.	-	13.53	2.263353	0.39995	.	.	ENSG00000104635	ENST00000359741;ENST00000520644;ENST00000240095;ENST00000381237;ENST00000289952;ENST00000524285;ENST00000520832;ENST00000519960;ENST00000522881;ENST00000517552	T;T;T;T;T;T;T;T;T;T	0.68181	-0.28;0.82;-0.31;-0.28;-0.28;0.82;0.63;0.82;0.82;0.82	.	.	.	.	1.107740	0.07078	N	0.836571	T	0.72716	0.3495	L	0.44542	1.39	0.09310	N	1	D;D;D	0.65815	0.991;0.984;0.995	D;D;D	0.78314	0.991;0.979;0.979	T	0.60372	-0.7276	8	0.87932	D	0	0.0011	.	.	.	.	5;5;5	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	Q	5	ENSP00000352779:L5Q;ENSP00000428789:L5Q;ENSP00000240095:L5Q;ENSP00000370635:L5Q;ENSP00000289952:L5Q;ENSP00000430315:L5Q;ENSP00000428905:L5Q;ENSP00000430629:L5Q;ENSP00000429328:L5Q;ENSP00000430564:L5Q	ENSP00000240095:L5Q	L	+	2	0	SLC39A14	22318182	0.001000	0.12720	0.037000	0.18230	0.679000	0.39708	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	CTG	SLC39A14	-	NULL	ENSG00000104635		0.617	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A14	HGNC	protein_coding	OTTHUMT00000215039.2		0	17	0	T	XM_046677		22262237	1			no_errors	ENST00000359741	ensembl	human	known	74_37	missense	15.38	21	4	SNP	0.087	A	A	22262237	T	A	22262237	3	1	152	1	0	0	0	0	1	0	0	0	14662	1580	55	5	16	5	SLC39A14	8	22262237	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	18696260	22262237	124101785	146	38751											
SLC39A14	23516	genome.wustl.edu	37	chr8	22275169	22275169	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcgctgctgtaggagacTttgtcatcctgctcaacgct	6	14	9	12	2	3	1	2	0	1	1	5	2	4	1	1	1	3	5	1	1	2	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:22275169T>G	ENST00000381237.1	+	8	1272	c.1153T>G	c.(1153-1155)Ttt>Gtt	p.F385V	SLC39A14_ENST00000240095.6_Missense_Mutation_p.F385V|SLC39A14_ENST00000289952.5_Missense_Mutation_p.F385V|SLC39A14_ENST00000359741.5_Missense_Mutation_p.F385V	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	385					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TGTAGGAGACTTTGTCATCCT	0.532																																																	0													164	127	140					8																	22275169		2203	4300	6503	SO:0001583	missense	0			D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"Solute carriers"	20858	protein-coding gene	gene with protein product		608736	"solute carrier family 39 (metal ion transporter), member 14"			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.1153T>G	8.37:g.22275169T>G	ENSP00000370635:p.Phe385Val		A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	pfam_ZIP	p.F385V	ENST00000381237.1	37	c.1153	CCDS47823.1	8	.	.	.	.	.	.	.	.	.	.	T	24.4	4.528625	0.85706	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	6.17	6.17	0.99709	.	0.048258	0.85682	D	0.000000	T	0.66046	0.2750	M	0.69463	2.115	0.80722	D	1	D;P;P	0.54964	0.969;0.927;0.927	D;P;P	0.63793	0.918;0.842;0.842	T	0.67688	-0.5606	10	0.62326	D	0.03	-28.8676	15.8048	0.78491	0.0:0.0:0.0:1.0	.	385;385;385	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	V	385	ENSP00000352779:F385V;ENSP00000240095:F385V;ENSP00000370635:F385V;ENSP00000289952:F385V	ENSP00000240095:F385V	F	+	1	0	SLC39A14	22331114	1.000000	0.71417	0.998000	0.56505	0.557000	0.35523	7.933000	0.87642	2.371000	0.80710	0.533000	0.62120	TTT	SLC39A14	-	pfam_ZIP	ENSG00000104635		0.532	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A14	HGNC	protein_coding	OTTHUMT00000215039.2	-	0	46	0	T	XM_046677		22275169	1	tier1	-	no_errors	ENST00000359741	ensembl	human	known	74_37	missense	23.94	54	17	SNP	1.000	G	G	22275169	T	G	22275169	3	3	152	1	0	0	0	0	1	0	0	0	14662	1609	56	4	1353	4	SLC39A14	8	22275169	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	12932	22275169	124088853	147	38752											
INTS9	55756	genome.wustl.edu	37	chr8	28716984	28716984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaaggaaggaaattgaGggtagaagtcatgtccagtc	14	8	14	5	0	1	2	1	1	0	1	3	4	2	4	1	4	0	2	1	4	5	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:28716984G>A	ENST00000521022.1	-	2	187	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	INTS9_ENST00000397363.4_Intron|INTS9_ENST00000416984.2_Missense_Mutation_p.L36F|INTS9_ENST00000521777.1_Missense_Mutation_p.L12F	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	36					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)		AGGAAATTGAGGGTAGAAGTC	0.428																																																	0													210	163	179					8																	28716984		2203	4300	6503	SO:0001583	missense	0			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.106C>T	8.37:g.28716984G>A	ENSP00000429065:p.Leu36Phe		B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	pfam_Beta_Casp	p.L36F	ENST00000521022.1	37	c.106	CCDS34873.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.81|18.81	3.702072|3.702072	0.68501|0.68501	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000521777;ENST00000523436;ENST00000520184|ENST00000524081	T;T;T;T|.	0.52295|.	0.67;0.75;0.7;0.79|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57066|0.57066	0.2028|0.2028	L|L	0.27975|0.27975	0.815|0.815	0.80722|0.80722	D|D	1|1	B;B;B|.	0.31893|.	0.345;0.054;0.07|.	B;B;B|.	0.27262|.	0.063;0.072;0.078|.	T|T	0.52215|0.52215	-0.8605|-0.8605	10|5	0.52906|.	T|.	0.07|.	-25.1704|-25.1704	18.8995|18.8995	0.92437|0.92437	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	36;36;36|.	B7Z6M5;G3XAN1;Q9NV88|.	.;.;INT9_HUMAN|.	F|L	36;36;12;36;12|27	ENSP00000429065:L36F;ENSP00000398208:L36F;ENSP00000430943:L12F;ENSP00000427789:L36F|.	ENSP00000398208:L36F|.	L|P	-|-	1|2	0|0	INTS9|INTS9	28772903|28772903	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.928000|0.928000	0.56348|0.56348	8.019000|8.019000	0.88732|0.88732	2.467000|2.467000	0.83353|0.83353	0.563000|0.563000	0.77884|0.77884	CTC|CCT	INTS9	-	NULL	ENSG00000104299		0.428	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS9	HGNC	protein_coding	OTTHUMT00000376846.1	-	0	121	0	G	NM_018250		28716984	-1	tier1	-	no_errors	ENST00000521022	ensembl	human	known	74_37	missense	32.43	50	24	SNP	1.000	A	A	28716984	G	A	28716984	3	1	152	1	0	0	0	0	1	0	0	0	7812	1000	35	3	1934	3	INTS9	8	28716984	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	6441815	28716984	117647038	148	38753											
LEPROTL1	23484	genome.wustl.edu	37	chr8	29961901	29961901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagattagtggatgatacaGatgctatgagtaacgcttgt	13	12	12	4	1	0	4	0	2	0	2	0	6	0	5	0	1	3	3	0	1	5	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:29961901G>T	ENST00000321250.8	+	3	293	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	LEPROTL1_ENST00000442880.2_Missense_Mutation_p.D60Y|LEPROTL1_ENST00000523116.1_Missense_Mutation_p.D60Y|LEPROTL1_ENST00000518001.1_5'UTR|LEPROTL1_ENST00000518192.1_Missense_Mutation_p.D83Y	NM_015344.2	NP_056159.2	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	60						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GGATGATACAGATGCTATGAG	0.393																																																	0													191	170	177					8																	29961901		2203	4300	6503	SO:0001583	missense	0			AF063605	CCDS6075.1, CCDS47834.1	8p12	2014-09-11			ENSG00000104660	ENSG00000104660			6555	protein-coding gene	gene with protein product		607338				11342119	Standard	NM_015344		Approved	my047, Vps55	uc003xhx.2	O95214	OTTHUMG00000163820	ENST00000321250.8:c.178G>T	8.37:g.29961901G>T	ENSP00000314625:p.Asp60Tyr		E9PHP8|Q9BW48	Missense_Mutation	SNP	pfam_VPS55	p.D60Y	ENST00000321250.8	37	c.178	CCDS6075.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.028269|4.028269	0.75390|0.75390	.|.	.|.	ENSG00000104660|ENSG00000104660	ENST00000321250;ENST00000520682;ENST00000442880;ENST00000523116;ENST00000518192|ENST00000519466	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83326|0.83326	0.5230|0.5230	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	P;B|.	0.35077|.	0.483;0.416|.	B;B|.	0.39971|.	0.174;0.315|.	D|D	0.84736|0.84736	0.0748|0.0748	9|5	0.87932|.	D|.	0|.	.|.	17.7642|17.7642	0.88473|0.88473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	60;60|.	E9PHP8;O95214|.	.;LERL1_HUMAN|.	Y|H	60;60;60;60;83|40	.|.	ENSP00000314625:D60Y|.	D|Q	+|+	1|3	0|2	LEPROTL1|LEPROTL1	30081443|30081443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.384000|9.384000	0.97219|0.97219	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	GAT|CAG	LEPROTL1	-	pfam_VPS55	ENSG00000104660		0.393	LEPROTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPROTL1	HGNC	protein_coding	OTTHUMT00000375771.2	-	0	79	0	G			29961901	1	tier1	-	no_errors	ENST00000523116	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	29961901	G	T	29961901	3	4	152	1	0	0	0	0	1	0	0	0	8761	942	33	3	188	3	LEPROTL1	8	29961901	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	1244917	29961901	116402121	149	38754											
C8orf41	80185	genome.wustl.edu	37	chr8	33361280	33361280	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctgttcacgaaagcCggcaggtttcttgcgtaggt	7	11	11	12	3	3	0	2	0	1	0	3	1	3	0	3	3	2	4	3	3	2	4	rs17850186	byFrequency	TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:33361280C>A	ENST00000431156.2	-	5	1719	c.1101G>T	c.(1099-1101)ccG>ccT	p.P367P	TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000520636.1_Silent_p.P336P|TTI2_ENST00000360742.5_Silent_p.P367P	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	367																	TCACGAAAGCCGGCAGGTTTC	0.527																																																	0													33	31	32					8																	33361280		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1101G>T	8.37:g.33361280C>A			D3DSV7|Q96IM2|Q9H5N4	Silent	SNP	pfam_DUF2454,superfamily_ARM-type_fold	p.P367	ENST00000431156.2	37	c.1101	CCDS6090.1	8																																																																																			TTI2	-	pfam_DUF2454,superfamily_ARM-type_fold	ENSG00000129696		0.527	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI2	HGNC	protein_coding	OTTHUMT00000376555.1		0	37	0	C	NM_025115		33361280	-1			no_errors	ENST00000360742	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.865	A	A	33361280	C	A	33361280	2	1	152	1	0	0	0	0	0	0	0	1	2434	639	23	2		2	C8orf41	8	33361280	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	3399379	33361280	113002742	150	38755											
UNC5D	137970	genome.wustl.edu	37	chr8	35583736	35583736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagccggacatacagcggacCcatctgtctgcaggaccctc	9	6	11	15	2	2	0	0	0	2	0	3	4	2	3	3	3	4	1	3	3	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:35583736C>T	ENST00000404895.2	+	10	1698	c.1370C>T	c.(1369-1371)cCc>cTc	p.P457L	UNC5D_ENST00000453357.2_Missense_Mutation_p.P452L|UNC5D_ENST00000416672.1_Missense_Mutation_p.P462L|UNC5D_ENST00000420357.1_Missense_Mutation_p.P390L|UNC5D_ENST00000449677.1_Missense_Mutation_p.P33L|UNC5D_ENST00000287272.2_Missense_Mutation_p.P388L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	457					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TACAGCGGACCCATCTGTCTG	0.498																																																	0													65	64	64					8																	35583736		2203	4300	6503	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1370C>T	8.37:g.35583736C>T	ENSP00000385143:p.Pro457Leu		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.P457L	ENST00000404895.2	37	c.1370	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	C	33	5.270221	0.95429	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.59638	0.29;0.71;0.9;0.28;0.25;1.87	6.04	6.04	0.98038	.	0.092812	0.85682	D	0.000000	T	0.78916	0.4359	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;0.99;0.994;0.99	D;P;P;P	0.85130	0.997;0.588;0.766;0.588	T	0.79366	-0.1833	10	0.87932	D	0	-21.7998	20.5948	0.99439	0.0:1.0:0.0:0.0	.	33;462;452;457	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	L	457;390;388;462;452;33	ENSP00000385143:P457L;ENSP00000392739:P390L;ENSP00000287272:P388L;ENSP00000412652:P462L;ENSP00000394303:P452L;ENSP00000397211:P33L	ENSP00000287272:P388L	P	+	2	0	UNC5D	35703278	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.487000	0.81328	2.873000	0.98535	0.563000	0.77884	CCC	UNC5D	-	NULL	ENSG00000156687		0.498	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0	93	0	C			35583736	1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	missense	17.50	66	14	SNP	1.000	T	T	35583736	C	T	35583736	3	4	152	1	0	0	0	0	1	0	0	0	17044	623	22	3	1408	3	UNC5D	8	35583736	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	2222456	35583736	110780286	151	38756											
MYST3	7994	genome.wustl.edu	37	chr8	41790300	41790300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtggatgccaagtttgggGgtggcgtcatggtggcttgt	5	13	18	5	1	1	0	1	0	0	0	1	1	1	1	1	6	1	2	1	6	2	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:41790300G>T	ENST00000396930.3	-	18	5981	c.5438C>A	c.(5437-5439)cCc>cAc	p.P1813H	KAT6A_ENST00000265713.2_Missense_Mutation_p.P1813H|KAT6A_ENST00000406337.1_Missense_Mutation_p.P1813H	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1813					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)										CAAGTTTGGGGGTGGCGTCAT	0.522																																																	0													181	174	176					8																	41790300		2203	4300	6503	SO:0001583	missense	0			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.5438C>A	8.37:g.41790300G>T	ENSP00000380136:p.Pro1813His		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P1813H	ENST00000396930.3	37	c.5438	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776187	0.31411	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.68765	-0.35;-0.35;-0.35	5.67	4.78	0.61160	.	0.000000	0.64402	D	0.000001	T	0.72078	0.3416	L	0.32530	0.975	0.58432	D	0.999995	D	0.71674	0.998	P	0.60789	0.879	T	0.76184	-0.3052	10	0.87932	D	0	-13.0407	16.8051	0.85625	0.0:0.1286:0.8714:0.0	.	1813	Q92794	KAT6A_HUMAN	H	1813	ENSP00000265713:P1813H;ENSP00000385888:P1813H;ENSP00000380136:P1813H	ENSP00000265713:P1813H	P	-	2	0	KAT6A	41909457	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.611000	0.82962	1.355000	0.45865	0.655000	0.94253	CCC	KAT6A	-	NULL	ENSG00000083168		0.522	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1		0	46	0	G	NM_006766		41790300	-1			no_errors	ENST00000265713	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	41790300	G	T	41790300	3	4	152	1	0	0	0	0	1	0	0	0	10142	1232	43	3	580	3	MYST3	8	41790300	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	6206564	41790300	104573722	152	38757											
CYP7B1	9420	genome.wustl.edu	37	chr8	65509363	65509363	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttccataagtgcaaaaaAtcggcctggacatttgctgg	12	12	9	8	1	0	0	0	0	0	0	2	1	1	1	2	3	2	2	2	3	5	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:65509363A>C	ENST00000310193.3	-	6	1530	c.1357T>G	c.(1357-1359)Ttt>Gtt	p.F453V	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	453					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGTGCAAAAAATCGGCCTGGA	0.353																																																	0													60	61	61					8																	65509363		2203	4299	6502	SO:0001583	missense	0			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1357T>G	8.37:g.65509363A>C	ENSP00000310721:p.Phe453Val		B2RN07|Q9UNF5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.F453V	ENST00000310193.3	37	c.1357	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	A	17.60	3.431103	0.62844	.	.	ENSG00000172817	ENST00000310193	T	0.67865	-0.29	5.55	4.39	0.52855	.	0.538705	0.22179	N	0.063523	T	0.67524	0.2902	L	0.58510	1.815	0.34138	D	0.66609	P	0.42871	0.792	P	0.46419	0.516	T	0.75271	-0.3376	10	0.44086	T	0.13	-5.1046	11.2938	0.49267	0.9283:0.0:0.0717:0.0	.	453	O75881	CP7B1_HUMAN	V	453	ENSP00000310721:F453V	ENSP00000310721:F453V	F	-	1	0	CYP7B1	65671917	1.000000	0.71417	0.689000	0.30133	0.779000	0.44077	6.271000	0.72569	0.929000	0.37192	0.460000	0.39030	TTT	CYP7B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	ENSG00000172817		0.353	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	-	0	152	0	A			65509363	-1	tier1	-	no_errors	ENST00000310193	ensembl	human	known	74_37	missense	35.80	104	58	SNP	0.998	C	C	65509363	A	C	65509363	3	2	152	1	0	0	0	0	1	0	0	0	4206	101	4	4	167	4	CYP7B1	8	65509363	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	23719063	65509363	80854659	153	38758											
TRAM1	23471	genome.wustl.edu	37	chr8	71495456	71495456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtttcttcttcacagctgGtgcctgaaaagcagaatgtt	9	14	10	8	0	3	2	1	1	2	1	3	2	3	2	1	2	3	4	1	2	3	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:71495456G>T	ENST00000262213.2	-	10	1163	c.994C>A	c.(994-996)Cca>Aca	p.P332T	TRAM1_ENST00000521425.1_Missense_Mutation_p.P246T|TRAM1_ENST00000521049.1_5'Flank|TRAM1_ENST00000536748.1_Missense_Mutation_p.P301T	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	332					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P332S(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TTCACAGCTGGTGCCTGAAAA	0.398																																					Ovarian(85;984 1334 5116 12432 40638)												1	Substitution - Missense(1)	lung(1)											133	121	125					8																	71495456		2203	4300	6503	SO:0001583	missense	0			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.994C>A	8.37:g.71495456G>T	ENSP00000262213:p.Pro332Thr		B4E0K2	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.P332T	ENST00000262213.2	37	c.994	CCDS6207.1	8	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640470	0.29157	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	T;T;T	0.40225	1.04;1.62;1.62	5.21	4.33	0.51752	.	0.708670	0.14133	N	0.339261	T	0.29126	0.0724	L	0.29908	0.895	0.36007	D	0.837824	B	0.06786	0.001	B	0.08055	0.003	T	0.20438	-1.0275	10	0.19147	T	0.46	.	9.4144	0.38512	0.0747:0.1452:0.7801:0.0	.	332	Q15629	TRAM1_HUMAN	T	246;332;301	ENSP00000428052:P246T;ENSP00000262213:P332T;ENSP00000439359:P301T	ENSP00000262213:P332T	P	-	1	0	TRAM1	71658010	1.000000	0.71417	0.981000	0.43875	0.959000	0.62525	6.500000	0.73687	1.415000	0.47037	0.655000	0.94253	CCA	TRAM1	-	pirsf_Translocation_assoc_membrane	ENSG00000067167		0.398	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1	HGNC	protein_coding	OTTHUMT00000378738.1		0	55	0	G	NM_014294		71495456	-1			no_errors	ENST00000262213	ensembl	human	known	74_37	missense	5.45	51	3	SNP	0.998	T	T	71495456	G	T	71495456	3	4	152	1	0	0	0	0	1	0	0	0	16499	1261	44	3	138	3	TRAM1	8	71495456	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	5986093	71495456	74868566	154	38759											
FAM82B	51115	genome.wustl.edu	37	chr8	87498834	87498834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagctgagctacatcacgtGatgcccgtgccaaacgccac	11	7	9	14	3	1	2	1	2	0	0	1	2	1	2	3	0	6	2	3	0	3	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:87498834G>A	ENST00000406452.3	-	4	533	c.374C>T	c.(373-375)tCa>tTa	p.S125L	CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000430676.2_Missense_Mutation_p.S125L|RMDN1_ENST00000519966.1_Missense_Mutation_p.S125L|RMDN1_ENST00000523911.1_Missense_Mutation_p.S81L	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	125						microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.S125L(1)									TACATCACGTGATGCCCGTGC	0.368																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											120	107	111					8																	87498834		2203	4300	6503	SO:0001583	missense	0			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.374C>T	8.37:g.87498834G>A	ENSP00000385927:p.Ser125Leu		A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	NULL	p.S125L	ENST00000406452.3	37	c.374	CCDS34918.1	8	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670265	0.47677	.	.	ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000521045	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.88	5.88	0.94601	Tetratricopeptide-like helical (1);	0.219319	0.40064	N	0.001190	T	0.36963	0.0986	L	0.50847	1.595	0.80722	D	1	B;B;B	0.23990	0.095;0.002;0.003	B;B;B	0.24848	0.056;0.003;0.007	T	0.13019	-1.0525	10	0.11485	T	0.65	-13.39	14.3958	0.67010	0.0701:0.0:0.9299:0.0	.	125;125;125	B4DZW6;E7EVI2;Q96DB5	.;.;RMD1_HUMAN	L	125;81;125;125;81	ENSP00000385927:S125L;ENSP00000429899:S81L;ENSP00000428661:S125L;ENSP00000409661:S125L;ENSP00000428743:S81L	ENSP00000385927:S125L	S	-	2	0	FAM82B	87567950	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.838000	0.62803	2.779000	0.95612	0.650000	0.86243	TCA	RMDN1	-	NULL	ENSG00000176623		0.368	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMDN1	HGNC	protein_coding	OTTHUMT00000374770.2	-	0	73	0	G	NM_016033		87498834	-1	tier1	-	no_errors	ENST00000406452	ensembl	human	known	74_37	missense	11.58	84	11	SNP	1.000	A	A	87498834	G	A	87498834	3	1	152	1	0	0	0	0	1	0	0	0	5654	1294	45	3	598	3	FAM82B	8	87498834	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	16003378	87498834	58865188	155	38760											
DPYS	1807	genome.wustl.edu	37	chr8	105405184	105405184	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccctcgaaaatgttgaagTtaacagcctgatgatgagtt	12	12	10	7	1	0	4	0	4	0	0	1	5	0	4	2	0	3	3	2	0	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:105405184T>G	ENST00000351513.2	-	8	1403	c.1271A>C	c.(1270-1272)aAc>aCc	p.N424T	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	424					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)			AATGTTGAAGTTAACAGCCTG	0.413																																																	0													90	95	94					8																	105405184		2203	4300	6503	SO:0001583	missense	0			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.1271A>C	8.37:g.105405184T>G	ENSP00000276651:p.Asn424Thr			Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.N424T	ENST00000351513.2	37	c.1271	CCDS6302.1	8	.	.	.	.	.	.	.	.	.	.	T	17.93	3.510072	0.64522	.	.	ENSG00000147647	ENST00000351513	T	0.74002	-0.8	6.02	6.02	0.97574	Metal-dependent hydrolase, composite domain (1);	0.146145	0.64402	D	0.000010	T	0.65709	0.2717	N	0.22421	0.69	0.53005	D	0.999968	B	0.16603	0.018	B	0.23275	0.045	T	0.62918	-0.6752	10	0.87932	D	0	-28.9534	16.5494	0.84464	0.0:0.0:0.0:1.0	.	424	Q14117	DPYS_HUMAN	T	424	ENSP00000276651:N424T	ENSP00000276651:N424T	N	-	2	0	DPYS	105474360	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	7.698000	0.84413	2.299000	0.77371	0.528000	0.53228	AAC	DPYS	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000147647		0.413	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	HGNC	protein_coding	OTTHUMT00000380814.1	-	0	65	0	T	NM_001385		105405184	-1	tier1	-	no_errors	ENST00000351513	ensembl	human	known	74_37	missense	15.07	62	11	SNP	1.000	G	G	105405184	T	G	105405184	3	3	152	1	0	0	0	0	1	0	0	0	4760	1725	60	4	296	4	DPYS	8	105405184	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	17906350	105405184	40958838	156	38761											
ANGPT1	284	genome.wustl.edu	37	chr8	108348423	108348423	+	5'UTR	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcatttgtctgttgaagaAgttgcttctctagcttgtag	7	19	9	6	0	3	2	1	1	2	1	4	2	3	2	0	0	2	5	0	0	4	8			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:108348423A>C	ENST00000520734.1	-	0	215				ANGPT1_ENST00000520052.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTGTTGAAGAAGTTGCTTCTC	0.328																																																	0													123	114	117					8																	108348423		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.-71T>G	8.37:g.108348423A>C			Q5HYA0	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.L177R	ENST00000520734.1	37	c.530		8	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802173	0.90538	.	.	ENSG00000154188	ENST00000517746;ENST00000297450	T;T	0.41065	1.01;1.01	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	M	0.71036	2.16	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71414	0.973;0.973	T	0.67321	-0.5700	10	0.72032	D	0.01	.	15.6906	0.77450	1.0:0.0:0.0:0.0	.	177;177	Q5HYA0;Q15389	.;ANGP1_HUMAN	R	177	ENSP00000428340:L177R;ENSP00000297450:L177R	ENSP00000297450:L177R	L	-	2	0	ANGPT1	108417599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.095000	0.94175	2.187000	0.69744	0.533000	0.62120	CTT	ANGPT1	-	NULL	ENSG00000154188		0.328	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	ANGPT1	HGNC	protein_coding	OTTHUMT00000380428.2	-	0	103	0	A	NM_001146, NM_139290		108348423	-1	tier1	-	no_errors	ENST00000517746	ensembl	human	known	74_37	missense	30.84	74	33	SNP	1.000	C	C	108348423	A	C	108348423	1	2	152	0	1	0	0	0	0	0	0	0	610	72	3	4		4	ANGPT1	8	108348423	5'UTR	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	2943239	108348423	38015599	157	38762											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110406647	110406647	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatctttttttaacaggagTtttccacagaaaatggcata	14	15	6	6	0	1	1	0	0	1	1	2	2	2	2	1	2	1	2	1	2	5	8			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:110406647T>G	ENST00000378402.5	+	10	848	c.744T>G	c.(742-744)agT>agG	p.S248R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	248	IPT/TIG 2.				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)			TTAACAGGAGTTTTCCACAGA	0.294										HNSCC(38;0.096)																																							0													44	39	40					8																	110406647		1761	4008	5769	SO:0001583	missense	0			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.744T>G	8.37:g.110406647T>G	ENSP00000367655:p.Ser248Arg		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.S248R	ENST00000378402.5	37	c.744	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	T	18.64	3.668104	0.67814	.	.	ENSG00000205038	ENST00000378402	T	0.80214	-1.35	5.71	0.614	0.17603	Cell surface receptor IPT/TIG (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86518	0.5952	M	0.81341	2.54	0.36729	D	0.881627	D	0.61697	0.99	D	0.65773	0.938	D	0.86096	0.1553	10	0.51188	T	0.08	.	9.0394	0.36307	0.0:0.303:0.0:0.697	.	248	Q86WI1	PKHL1_HUMAN	R	248	ENSP00000367655:S248R	ENSP00000367655:S248R	S	+	3	2	PKHD1L1	110475823	1.000000	0.71417	0.989000	0.46669	0.905000	0.53344	1.177000	0.31969	0.116000	0.18110	0.533000	0.62120	AGT	PKHD1L1	-	pfam_IPT,smart_IPT	ENSG00000205038		0.294	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	38	0	T	NM_177531		110406647	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	40.32	37	25	SNP	1.000	G	G	110406647	T	G	110406647	3	3	152	1	0	0	0	0	1	0	0	0	12011	1722	60	4	782	4	PKHD1L1	8	110406647	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	2058224	110406647	35957375	158	38763											
SLC45A4	57210	genome.wustl.edu	37	chr8	142231845	142231845	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggaaccaggtgaggctGtagtactgctccggaaggcc	9	7	14	11	1	1	1	1	1	0	0	2	3	2	3	3	5	3	4	3	5	4	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:142231845G>T	ENST00000024061.3	-	2	415	c.108C>A	c.(106-108)taC>taA	p.Y36*	SLC45A4_ENST00000519067.1_Nonsense_Mutation_p.Y36*|SLC45A4_ENST00000517878.1_Nonsense_Mutation_p.Y87*|SLC45A4_ENST00000433583.2_Nonsense_Mutation_p.Y29*	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)			AGGTGAGGCTGTAGTACTGCT	0.672																																																	0													92	75	81					8																	142231845		2203	4300	6503	SO:0001587	stop_gained	0			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.108C>A	8.37:g.142231845G>T	ENSP00000024061:p.Tyr36*		Q6ZRI2|Q9ULU3	Nonsense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.Y87*	ENST00000024061.3	37	c.261	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.404918	0.98262	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000519986	.	.	.	5.49	2.7	0.31948	.	0.053571	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-41.6621	10.9256	0.47189	0.1996:0.0:0.8004:0.0	.	.	.	.	X	36;87;29;36;18	.	ENSP00000024061:Y36X	Y	-	3	2	SLC45A4	142301027	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.406000	0.59748	1.325000	0.45301	0.407000	0.27541	TAC	SLC45A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000022567		0.672	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	-	0	58	0	G	XM_050325		142231845	-1	tier1	-	no_errors	ENST00000517878	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	1.000	T	T	142231845	G	T	142231845	4	4	152	1	0	0	0	0	0	1	0	0	14688	1372	48	3	2316	3	SLC45A4	8	142231845	Nonsense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	31825198	142231845	4132177	159	38764											
SCRIB	23513	genome.wustl.edu	37	chr8	144891096	144891096	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gtccttgcggatgagccgctGcctcccgcctggcagggtcc	3	8	14	16	3	0	1	0	1	0	0	3	2	3	2	6	3	3	2	6	3	0	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr8:144891096G>T	ENST00000320476.3	-	15	1804	c.1798C>A	c.(1798-1800)Cag>Aag	p.Q600K	SCRIB_ENST00000377533.3_Missense_Mutation_p.Q519K|SCRIB_ENST00000356994.2_Missense_Mutation_p.Q600K	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	600	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)			ATGAGCCGCTGCCTCCCGCCT	0.652																																					Pancreas(51;966 1133 10533 14576 29674)												0													73	75	74					8																	144891096		2203	4300	6503	SO:0001583	missense	0			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.1798C>A	8.37:g.144891096G>T	ENSP00000322938:p.Gln600Lys		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Q600K	ENST00000320476.3	37	c.1798	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	g	21.2	4.106686	0.77096	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.37235	1.43;1.41;1.21	4.79	4.79	0.61399	.	.	.	.	.	T	0.56381	0.1981	M	0.65498	2.005	0.47094	D	0.999312	D;P	0.64830	0.994;0.811	D;B	0.70227	0.968;0.425	T	0.52079	-0.8623	9	0.22706	T	0.39	.	16.8367	0.85958	0.0:0.0:1.0:0.0	.	600;600	Q14160;Q14160-3	SCRIB_HUMAN;.	K	600;600;519	ENSP00000349486:Q600K;ENSP00000322938:Q600K;ENSP00000366756:Q519K	ENSP00000322938:Q600K	Q	-	1	0	SCRIB	144963084	1.000000	0.71417	0.802000	0.32245	0.890000	0.51754	7.389000	0.79806	2.225000	0.72522	0.401000	0.26515	CAG	SCRIB	-	NULL	ENSG00000180900		0.652	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1		0	28	0	G	NM_015356		144891096	-1			no_errors	ENST00000320476	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	144891096	G	T	144891096	3	4	152	1	0	0	0	0	1	0	0	0	13982	1328	46	3	3261	3	SCRIB	8	144891096	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	2659251	144891096	1472926	160	38765											
RLN1	6013	genome.wustl.edu	37	chr9	5339673	5339673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taacatcgtccttccatttgGccgcgactgctctggaaaat	9	12	8	12	3	1	0	0	0	1	0	4	2	3	1	3	2	2	1	3	2	3	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:5339673G>T	ENST00000223862.1	-	1	200	c.74C>A	c.(73-75)gCc>gAc	p.A25D	RLN1_ENST00000223858.4_Missense_Mutation_p.A25D|RLN1_ENST00000487557.2_5'Flank	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	25					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		CTTCCATTTGGCCGCGACTGC	0.517																																																	0													62	70	67					9																	5339673		2195	4299	6494	SO:0001583	missense	0				CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"Endogenous ligands"	10026	protein-coding gene	gene with protein product	"prorelaxin H1"	179730	"relaxin 1 (H1)"				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.74C>A	9.37:g.5339673G>T	ENSP00000223862:p.Ala25Asp		Q99936|Q9UQJ1	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.A25D	ENST00000223862.1	37	c.74	CCDS6462.1	9	.	.	.	.	.	.	.	.	.	.	T	4.639	0.118870	0.08881	.	.	ENSG00000107018	ENST00000223862;ENST00000223858	T;T	0.18960	2.26;2.18	1.6	-1.88	0.07713	Insulin-like (1);	18.332700	0.00950	N	0.002943	T	0.09069	0.0224	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22173	-1.0224	10	0.10902	T	0.67	.	5.9636	0.19313	0.0:0.0:0.4474:0.5526	.	25	P04808	REL1_HUMAN	D	25	ENSP00000223862:A25D;ENSP00000223858:A25D	ENSP00000223858:A25D	A	-	2	0	RLN1	5329673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.648000	0.01995	-0.415000	0.07484	0.532000	0.56150	GCC	RLN1	-	superfamily_Insulin-like	ENSG00000107018		0.517	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN1	HGNC	protein_coding	OTTHUMT00000051617.1		0	65	0	G			5339673	-1			no_errors	ENST00000223862	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T	T	5339673	G	T	5339673	3	4	152	1	0	0	0	0	1	0	0	0	13436	1203	42	3	491	3	RLN1	9	5339673	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09		5339673	135873758	161	38766											
PTPRD	5789	genome.wustl.edu	37	chr9	8486088	8486088	+	Missense_Mutation	SNP	T	T	G	0	1	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	cttcttctggaatggaaatcTccttcaccatctcctcccca	8	13	4	16	0	5	0	1	0	4	0	8	2	6	2	5	2	0	0	5	2	2	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:8486088T>G	ENST00000381196.4	-	25	3272	c.2729A>C	c.(2728-2730)gAg>gCg	p.E910A	PTPRD_ENST00000540109.1_Missense_Mutation_p.E910A|PTPRD_ENST00000356435.5_Missense_Mutation_p.E910A|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E897A|PTPRD_ENST00000358503.5_Missense_Mutation_p.E888A|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	910	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGGAAATCTCCTTCACCAT	0.488										TSP Lung(15;0.13)																																							0													114	106	109					9																	8486088		2203	4300	6503	SO:0001583	missense	0			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.2729A>C	9.37:g.8486088T>G	ENSP00000370593:p.Glu910Ala		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.E910A	ENST00000381196.4	37	c.2729	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151842	0.38021	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.68	5.68	0.88126	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	L	0.60845	1.875	0.80722	D	1	B;D;B	0.57257	0.166;0.979;0.017	B;P;B	0.51777	0.056;0.679;0.015	T	0.55988	-0.8053	9	.	.	.	.	15.9354	0.79698	0.0:0.0:0.0:1.0	.	897;910;910	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	A	910;910;897;888;910	ENSP00000370593:E910A;ENSP00000348812:E910A;ENSP00000353187:E897A;ENSP00000351293:E888A;ENSP00000438164:E910A	.	E	-	2	0	PTPRD	8476088	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.289000	0.72696	2.182000	0.69389	0.533000	0.62120	GAG	PTPRD	-	pfscan_Fibronectin_type3	ENSG00000153707		0.488	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	144	0	T			8486088	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	18.25	109	25	SNP	1.000	G	G	8486088	T	G	8486088	3	3	152	1	0	0	0	0	1	0	0	0	12844	1551	54	4	3153	4	PTPRD	9	8486088	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	3146415	8486088	132727343	162	38767											
MTAP	4507	genome.wustl.edu	37	chr9	21816771	21816771	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattgcgtcctccttgcaaGgtatggtattttaagctttt	7	18	9	7	1	0	1	0	1	0	0	2	1	2	1	2	2	3	4	2	2	4	8			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:21816771G>T	ENST00000460874.2	+	3	455	c.230G>T	c.(229-231)aGg>aTg	p.R77M	MTAP_ENST00000380172.4_Splice_Site_p.R60M|MTAP_ENST00000427788.2_3'UTR|RP11-145E5.5_ENST00000404796.2_Splice_Site_p.R60M|MTAP_ENST00000580900.1_Splice_Site_p.R60M					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		CTCCTTGCAAGGTATGGTATT	0.313																																																	2	Whole gene deletion(2)	lung(2)											213	207	209					9																	21816771		2203	4300	6503	SO:0001630	splice_region_variant	0			AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"S-methyl-5'-thioadenosine phosphorylase"	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.230+1G>T	9.37:g.21816771G>T				Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP	p.R60M	ENST00000460874.2	37	c.179		9	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583051	0.86748	.	.	ENSG00000099810	ENST00000380172	T	0.48201	0.82	5.44	5.44	0.79542	Purine phosphorylase, family 2, conserved site (1);Nucleoside phosphorylase domain (1);	0.081637	0.85682	D	0.000000	T	0.79106	0.4390	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.994;0.999	D	0.85213	0.1022	10	0.87932	D	0	-16.6468	18.3922	0.90487	0.0:0.0:1.0:0.0	.	77;60;60	B4DUC8;F2Z2F3;Q13126	.;.;MTAP_HUMAN	M	60	ENSP00000369519:R60M	ENSP00000369519:R60M	R	+	2	0	MTAP	21806771	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	8.399000	0.90197	2.711000	0.92665	0.561000	0.74099	AGG	MTAP	-	pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP	ENSG00000099810		0.313	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	MTAP	HGNC	protein_coding	OTTHUMT00000051929.2	-	0	96	0	G	NM_002451	Missense_Mutation	21816771	1	tier1	-	no_errors	ENST00000380172	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	T	T	21816771	G	T	21816771	5	4	152	1	0	0	0	0	0	0	1	0	9949	1014	35	3	189	3	MTAP	9	21816771	Splice_Site	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	13330683	21816771	119396660	163	38768											
LINGO2	158038	genome.wustl.edu	37	chr9	27949357	27949357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaaatcacaggctgcGggtctccatctgcactgcat	9	8	10	14	1	3	0	1	0	2	0	4	1	3	1	2	3	3	3	2	3	1	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:27949357G>T	ENST00000379992.2	-	6	1762	c.1313C>A	c.(1312-1314)cCg>cAg	p.P438Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.P438Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	438	Ig-like C2-type.					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)		CACAGGCTGCGGGTCTCCATC	0.517																																																	0													80	71	74					9																	27949357		2203	4300	6503	SO:0001583	missense	0			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.1313C>A	9.37:g.27949357G>T	ENSP00000369328:p.Pro438Gln		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P438Q	ENST00000379992.2	37	c.1313	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346837	0.61073	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	D;D	0.97850	-4.57;-4.57	5.82	5.82	0.92795	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99312	0.9759	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98664	1.0685	9	.	.	.	.	20.0989	0.97860	0.0:0.0:1.0:0.0	.	438	Q7L985	LIGO2_HUMAN	Q	438	ENSP00000369328:P438Q;ENSP00000310126:P438Q	.	P	-	2	0	LINGO2	27939357	1.000000	0.71417	0.967000	0.41034	0.926000	0.56050	9.869000	0.99810	2.764000	0.94973	0.650000	0.86243	CCG	LINGO2	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000174482		0.517	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	-	0	66	0	G	NM_152570		27949357	-1	tier1	-	no_errors	ENST00000308675	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	27949357	G	T	27949357	3	4	152	1	0	0	0	0	1	0	0	0	8845	1116	39	2	511	2	LINGO2	9	27949357	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	6132586	27949357	113264074	164	38769											
VCP	7415	genome.wustl.edu	37	chr9	35060387	35060387	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctcaggacccttgatggagaTgaagttggcctggcattcat	9	11	12	9	0	2	3	2	2	0	1	2	5	2	4	2	4	0	2	2	4	1	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:35060387T>C	ENST00000358901.6	-	13	2513	c.1618A>G	c.(1618-1620)Atc>Gtc	p.I540V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	540					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)			TTGATGGAGATGAAGTTGGCC	0.493																																																	0													89	81	84					9																	35060387		2203	4300	6503	SO:0001583	missense	0			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.1618A>G	9.37:g.35060387T>C	ENSP00000351777:p.Ile540Val		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.I540V	ENST00000358901.6	37	c.1618	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933617	0.52866	.	.	ENSG00000165280	ENST00000358901	D	0.92699	-3.09	5.85	4.69	0.59074	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.90225	0.6944	L	0.53617	1.68	0.80722	D	1	B	0.16166	0.016	B	0.28011	0.085	D	0.86482	0.1792	10	0.59425	D	0.04	-5.8519	12.3585	0.55188	0.1265:0.0:0.0:0.8735	.	540	P55072	TERA_HUMAN	V	540	ENSP00000351777:I540V	ENSP00000351777:I540V	I	-	1	0	VCP	35050387	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.040000	0.89188	1.007000	0.39238	0.533000	0.62120	ATC	VCP	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.493	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	-	0	69	0	T	NM_007126		35060387	-1	tier1	-	no_errors	ENST00000358901	ensembl	human	known	74_37	missense	14.55	47	8	SNP	1.000	C	C	35060387	T	C	35060387	3	2	152	1	0	0	0	0	1	0	0	0	17189	1464	51	4	822	4	VCP	9	35060387	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	7111030	35060387	106153044	165	38770											
UNC13B	10497	genome.wustl.edu	37	chr9	35396880	35396880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatggctggatgagaatgaGgatgtatccctggaattcct	11	11	12	7	0	0	2	0	2	0	1	2	6	2	5	2	4	0	2	2	4	4	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:35396880G>T	ENST00000378495.3	+	27	3453	c.3231G>T	c.(3229-3231)gaG>gaT	p.E1077D	UNC13B_ENST00000396787.1_Missense_Mutation_p.E1089D|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Missense_Mutation_p.E1077D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1077	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)			ATGAGAATGAGGATGTATCCC	0.562																																																	0													229	211	217					9																	35396880		2203	4300	6503	SO:0001583	missense	0			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.3231G>T	9.37:g.35396880G>T	ENSP00000367756:p.Glu1077Asp		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E1077D	ENST00000378495.3	37	c.3231	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864757	0.51482	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.83755	-1.63;-1.57;-1.76	5.25	-2.62	0.06152	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	L	0.45470	1.425	0.49798	D	0.999827	B;B	0.34161	0.439;0.101	B;B	0.32762	0.152;0.038	T	0.60835	-0.7184	10	0.13853	T	0.58	-23.1689	12.6819	0.56926	0.5494:0.0:0.4506:0.0	.	1077;1077	F8W8M9;O14795	.;UN13B_HUMAN	D	1089;1077;1077;664	ENSP00000380006:E1089D;ENSP00000367756:E1077D;ENSP00000367757:E1077D	ENSP00000367756:E1077D	E	+	3	2	UNC13B	35386880	0.994000	0.37717	0.972000	0.41901	0.982000	0.71751	0.301000	0.19174	-0.583000	0.05921	-0.251000	0.11542	GAG	UNC13B	-	NULL	ENSG00000198722		0.562	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	-	0	101	0	G	NM_006377		35396880	1	tier1	-	no_errors	ENST00000378496	ensembl	human	known	74_37	missense	6.67	69	5	SNP	0.989	T	T	35396880	G	T	35396880	3	4	152	1	0	0	0	0	1	0	0	0	17034	991	35	3	3337	3	UNC13B	9	35396880	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	336493	35396880	105816551	166	38771											
DAPK1	1612	genome.wustl.edu	37	chr9	90220079	90220079	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagacggacgtcatcctGatcttggaactgtgagtgcc	11	9	11	10	2	2	3	1	2	1	1	3	5	3	5	2	2	3	0	2	2	3	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:90220079G>T	ENST00000408954.3	+	3	608	c.273G>T	c.(271-273)ctG>ctT	p.L91L	DAPK1_ENST00000469640.2_Silent_p.L91L|DAPK1_ENST00000358077.5_Silent_p.L91L|DAPK1_ENST00000491893.1_Silent_p.L91L|DAPK1_ENST00000472284.1_Silent_p.L91L	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	91	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACGTCATCCTGATCTTGGAAC	0.617									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													65	64	64					9																	90220079		2196	4298	6494	SO:0001819	synonymous_variant	0	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.273G>T	9.37:g.90220079G>T			B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.L91	ENST00000408954.3	37	c.273	CCDS43842.1	9																																																																																			DAPK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000196730		0.617	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1		0	61	0	G	NM_004938		90220079	1			no_errors	ENST00000469640	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.859	T	T	90220079	G	T	90220079	2	4	152	1	0	0	0	0	0	0	0	1	4244	1277	45	3		3	DAPK1	9	90220079	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	54823199	90220079	50993352	167	38772											
TLR4	7099	genome.wustl.edu	37	chr9	120475898	120475898	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcacagagctgagaaacTtgaccttcctggacctctct	9	12	7	13	0	3	3	1	2	2	2	5	5	4	4	3	1	2	1	3	1	1	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:120475898T>G	ENST00000355622.6	+	3	1593	c.1492T>G	c.(1492-1494)Ttg>Gtg	p.L498V	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L458V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	498					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GCTGAGAAACTTGACCTTCCT	0.448																																																	0													79	77	78					9																	120475898		2203	4300	6503	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1492T>G	9.37:g.120475898T>G	ENSP00000363089:p.Leu498Val		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L498V	ENST00000355622.6	37	c.1492	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	T	14.06	2.421589	0.43020	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.05081	3.5;3.5	5.72	3.39	0.38822	.	0.000000	0.52532	D	0.000067	T	0.19127	0.0459	M	0.76433	2.335	0.41262	D	0.986783	D	0.89917	1.0	D	0.97110	1.0	T	0.00809	-1.1557	10	0.87932	D	0	.	4.5719	0.12214	0.0:0.4523:0.0:0.5477	.	498	O00206	TLR4_HUMAN	V	458;498	ENSP00000377997:L458V;ENSP00000363089:L498V	ENSP00000363089:L498V	L	+	1	2	TLR4	119515719	0.885000	0.30320	0.310000	0.25168	0.162000	0.22319	1.253000	0.32886	1.006000	0.39211	0.528000	0.53228	TTG	TLR4	-	pirsf_Toll-like_receptor,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000136869		0.448	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	-	0	54	0	T	NM_138554		120475898	1	tier1	-	no_errors	ENST00000355622	ensembl	human	known	74_37	missense	64.29	20	36	SNP	0.773	G	G	120475898	T	G	120475898	3	3	152	1	0	0	0	0	1	0	0	0	16000	1606	56	4	1502	4	TLR4	9	120475898	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	30255819	120475898	20737533	168	38773											
DENND1A	57706	genome.wustl.edu	37	chr9	126433582	126433582	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacttaccacgctgagatgGacagacactcctgggtcagg	10	7	11	13	1	1	2	1	1	0	2	2	4	2	3	3	3	1	1	3	3	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:126433582G>T	ENST00000373624.2	-	7	642	c.441C>A	c.(439-441)gtC>gtA	p.V147V	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Silent_p.V115V|DENND1A_ENST00000394219.3_Silent_p.V115V|DENND1A_ENST00000394215.2_Silent_p.V117V|DENND1A_ENST00000373620.3_Silent_p.V147V	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	147	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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						CGCTGAGATGGACAGACACTC	0.433																																																	0													256	247	250					9																	126433582		2203	4300	6503	SO:0001819	synonymous_variant	0			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.441C>A	9.37:g.126433582G>T			A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.V115	ENST00000373624.2	37	c.345	CCDS35133.1	9																																																																																			DENND1A	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000119522		0.433	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1	-	0	78	0	G	NM_024820		126433582	-1	tier1	-	no_errors	ENST00000394219	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T	T	126433582	G	T	126433582	2	4	152	1	0	0	0	0	0	0	0	1	4440	1161	41	3		3	DENND1A	9	126433582	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	5957684	126433582	14779849	169	38774											
LRSAM1	90678	genome.wustl.edu	37	chr9	130236144	130236144	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctggagcaagatggaatCgagaactctcgggacagccc	12	7	12	10	2	2	2	0	0	2	2	4	6	2	5	1	3	3	1	1	3	3	1	rs376671005		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:130236144C>A	ENST00000323301.4	+	10	1288	c.684C>A	c.(682-684)atC>atA	p.I228I	LRSAM1_ENST00000373322.1_Silent_p.I228I|Y_RNA_ENST00000363918.1_RNA|LRSAM1_ENST00000373324.4_Silent_p.I228I|LRSAM1_ENST00000300417.6_Silent_p.I228I	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	228					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AAGATGGAATCGAGAACTCTC	0.552																																																	0													106	87	93					9																	130236144		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.684C>A	9.37:g.130236144C>A			Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.I228	ENST00000323301.4	37	c.684	CCDS6873.1	9																																																																																			LRSAM1	-	NULL	ENSG00000148356		0.552	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	-	0	47	0	C	NM_138361		130236144	1	tier1	-	no_errors	ENST00000300417	ensembl	human	known	74_37	silent	19.23	42	10	SNP	0.000	A	A	130236144	C	A	130236144	2	1	152	1	0	0	0	0	0	0	0	1	9078	874	31	2		2	LRSAM1	9	130236144	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	3802562	130236144	10977287	170	38775											
FPGS	2356	genome.wustl.edu	37	chr9	130571165	130571165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	agcccacatcccacatgcggCtcggtgagttagaccttcct	8	9	9	15	2	0	2	0	1	0	1	3	2	2	2	4	2	2	2	4	2	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:130571165C>T	ENST00000373247.2	+	11	1107	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F	FPGS_ENST00000373245.1_Silent_p.G303G|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.L327F|FPGS_ENST00000373225.3_Missense_Mutation_p.L303F	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	353					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)	CCACATGCGGCTCGGTGAGTT	0.562																																																	0													19	20	20					9																	130571165		2182	4274	6456	SO:0001583	missense	0				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.1057C>T	9.37:g.130571165C>T	ENSP00000362344:p.Leu353Phe		B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth	p.L353F	ENST00000373247.2	37	c.1057	CCDS35148.1	9	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227394	0.39399	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.14144	2.94;2.94;2.53	4.79	4.79	0.61399	Mur ligase, central (1);	0.497317	0.23173	N	0.051110	T	0.13543	0.0328	L	0.32530	0.975	0.80722	D	1	B;B	0.23540	0.087;0.087	B;B	0.34652	0.142;0.187	T	0.06698	-1.0812	10	0.52906	T	0.07	-24.6709	9.4884	0.38944	0.0:0.9008:0.0:0.0992	.	327;353	Q05932-4;Q05932	.;FOLC_HUMAN	F	353;327;303	ENSP00000362344:L353F;ENSP00000377309:L327F;ENSP00000362322:L303F	ENSP00000362322:L303F	L	+	1	0	FPGS	129610986	0.027000	0.19231	0.591000	0.28745	0.859000	0.49053	1.325000	0.33724	2.389000	0.81357	0.462000	0.41574	CTC	FPGS	-	tigrfam_Folylpolyglutamate_synth	ENSG00000136877		0.562	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGS	HGNC	protein_coding	OTTHUMT00000054251.1	-	0	61	0	C			130571165	1	tier1	-	no_errors	ENST00000373247	ensembl	human	known	74_37	missense	66.20	23	47	SNP	0.747	T	T	130571165	C	T	130571165	3	4	152	1	0	0	0	0	1	0	0	0	6060	797	28	3	1099	3	FPGS	9	130571165	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	335021	130571165	10642266	171	38776											
CIZ1	25792	genome.wustl.edu	37	chr9	130941243	130941243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctgcacctgccttggggGctgtgaatgtgcctggggct	4	10	16	11	0	0	1	0	1	0	0	0	1	0	1	3	4	4	4	3	4	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:130941243G>T	ENST00000393608.1	-	8	1445	c.1243C>A	c.(1243-1245)Ccc>Acc	p.P415T	CIZ1_ENST00000277465.4_Intron|CIZ1_ENST00000541172.1_Missense_Mutation_p.P314T|CIZ1_ENST00000325721.8_Missense_Mutation_p.P386T|CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000357558.5_Intron|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Missense_Mutation_p.P415T|CIZ1_ENST00000372938.5_Missense_Mutation_p.P415T	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	415	Gln-rich.				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						TGCCTTGGGGGCTGTGAATGT	0.627																																																	0													110	99	103					9																	130941243		2203	4300	6503	SO:0001583	missense	0			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.1243C>A	9.37:g.130941243G>T	ENSP00000377232:p.Pro415Thr		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.P415T	ENST00000393608.1	37	c.1243	CCDS6894.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.72|11.72	1.721422|1.721422	0.30503|0.30503	.|.	.|.	ENSG00000148337|ENSG00000148337	ENST00000372941|ENST00000393608;ENST00000538431;ENST00000325721;ENST00000541172;ENST00000372938;ENST00000415526	.|T;T;T;T;T;T	.|0.32272	.|1.52;1.46;1.49;1.91;1.52;2.1	3.94|3.94	3.04|3.04	0.35103|0.35103	.|.	.|0.573473	.|0.14658	.|N	.|0.306111	.|T	.|0.17023	.|0.0409	N|N	0.08118|0.08118	0|0	0.24075|0.24075	N|N	0.995968|0.995968	.|B;P;B;P	.|0.42296	.|0.437;0.775;0.437;0.573	.|B;B;B;B	.|0.42282	.|0.186;0.382;0.134;0.261	.|T	.|0.08006	.|-1.0743	.|9	.|.	.|.	.|.	.|-8.4667	10.1728|10.1728	0.42920|0.42920	0.1002:0.0:0.8998:0.0|0.1002:0.0:0.8998:0.0	.|.	.|415;415;415;386	.|B7Z3U7;F5H2X7;Q9ULV3;Q9ULV3-2	.|.;.;CIZ1_HUMAN;.	.|T	-1|415;415;386;314;415;337	.|ENSP00000377232:P415T;ENSP00000439244:P415T;ENSP00000320374:P386T;ENSP00000445057:P314T;ENSP00000362029:P415T;ENSP00000398011:P337T	.|.	.|P	-|-	.|1	.|0	CIZ1|CIZ1	129981064|129981064	0.582000|0.582000	0.26749|0.26749	0.531000|0.531000	0.27976|0.27976	0.164000|0.164000	0.22412|0.22412	0.103000|0.103000	0.15292|0.15292	1.248000|1.248000	0.43934|0.43934	0.561000|0.561000	0.74099|0.74099	.|CCC	CIZ1	-	NULL	ENSG00000148337		0.627	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1		0	49	0	G	NM_012127		130941243	-1			no_errors	ENST00000538431	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.976	T	T	130941243	G	T	130941243	3	4	152	1	0	0	0	0	1	0	0	0	3448	1203	42	3	1493	3	CIZ1	9	130941243	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	370078	130941243	10272188	172	38777											
COQ4	51117	genome.wustl.edu	37	chr9	131094519	131094519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcggtaccgggaggtgcacGacatgcttcacaccctgctg	8	7	13	13	3	1	0	1	0	0	0	1	2	1	1	2	3	5	4	2	3	1	2	rs200009624		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr9:131094519G>A	ENST00000300452.3	+	5	813	c.490G>A	c.(490-492)Gac>Aac	p.D164N	COQ4_ENST00000461102.1_3'UTR	NM_016035.3	NP_057119			coenzyme Q4											endometrium(4)|large_intestine(1)|lung(4)	9						GGAGGTGCACGACATGCTTCA	0.627																																																	0													118	74	89					9																	131094519		2203	4300	6503	SO:0001583	missense	0			AF151850	CCDS6898.1	9q34.2	2013-10-18	2013-10-18		ENSG00000167113	ENSG00000167113			19693	protein-coding gene	gene with protein product		612898	"coenzyme Q4 homolog (yeast)", "coenzyme Q4 homolog (S. cerevisiae)"			11469793, 18474229	Standard	NM_016035		Approved	CGI-92	uc004bur.4	Q9Y3A0	OTTHUMG00000020743	ENST00000300452.3:c.490G>A	9.37:g.131094519G>A	ENSP00000300452:p.Asp164Asn			Missense_Mutation	SNP	pfam_Coq4	p.D164N	ENST00000300452.3	37	c.490	CCDS6898.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.681077	0.96774	.	.	ENSG00000167113	ENST00000300452	T	0.69926	-0.44	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90900	0.4768	10	0.87932	D	0	-19.2412	18.9583	0.92668	0.0:0.0:1.0:0.0	.	164	Q9Y3A0	COQ4_HUMAN	N	164	ENSP00000300452:D164N	ENSP00000300452:D164N	D	+	1	0	COQ4	130134340	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	9.209000	0.95087	2.724000	0.93272	0.491000	0.48974	GAC	COQ4	-	pfam_Coq4	ENSG00000167113		0.627	COQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ4	HGNC	protein_coding	OTTHUMT00000054427.1	-	0	63	0	G	NM_016035		131094519	1	tier1	rs200009624	no_errors	ENST00000300452	ensembl	human	known	74_37	missense	19.44	58	14	SNP	1.000	A	A	131094519	G	A	131094519	3	1	152	1	0	0	0	0	1	0	0	0	3754	1058	37	1	508	1	COQ4	9	131094519	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	153276	131094519	10118912	173	38778											
PFKFB3	5209	genome.wustl.edu	37	chr10	6262656	6262656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgattgacgtgggccGgaggttcctggtgaaccggg	7	8	18	8	3	0	3	0	3	0	0	1	4	1	4	3	6	1	1	3	6	2	2	rs140784797		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:6262656G>A	ENST00000379775.4	+	8	989	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_Missense_Mutation_p.R220Q|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R234Q|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R200Q|PFKFB3_ENST00000317350.4_Missense_Mutation_p.R220Q|PFKFB3_ENST00000360521.2_Missense_Mutation_p.R220Q|PFKFB3_ENST00000379782.3_Missense_Mutation_p.R220Q	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	220	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						GACGTGGGCCGGAGGTTCCTG	0.617																																																	0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	167	128	141		599,659	4.1	1	10	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PFKFB3	NM_001145443.1,NM_004566.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	200/501,220/521	6262656	1,13005	2203	4300	6503	SO:0001583	missense	0				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.659G>A	10.37:g.6262656G>A	ENSP00000369100:p.Arg220Gln		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.R234Q	ENST00000379775.4	37	c.701	CCDS7078.1	10	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652772	0.47362	0.0	1.16E-4	ENSG00000170525	ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.93	4.07	0.47477	6-phosphofructo-2-kinase (1);	0.171997	0.52532	D	0.000068	T	0.35595	0.0937	N	0.17379	0.485	0.80722	D	1	B;B;B;B	0.26041	0.14;0.024;0.065;0.116	B;B;B;B	0.17433	0.018;0.002;0.012;0.004	T	0.17048	-1.0382	9	0.07325	T	0.83	-7.2582	12.7155	0.57113	0.1342:0.0:0.8658:0.0	.	234;220;220;200	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	Q	200;234;220;220;220;220;220;220	.	ENSP00000369105:R220Q	R	+	2	0	PFKFB3	6302662	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	5.554000	0.67294	1.512000	0.48834	0.561000	0.74099	CGG	PFKFB3	-	pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase	ENSG00000170525		0.617	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PFKFB3	HGNC	protein_coding	OTTHUMT00000046647.1	-	0	57	0	G			6262656	1	tier1	rs140784797	no_errors	ENST00000540253	ensembl	human	known	74_37	missense	43.64	31	24	SNP	0.998	A	A	6262656	G	A	6262656	3	1	152	1	0	0	0	0	1	0	0	0	11801	1116	39	1	709	1	PFKFB3	10	6262656	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09		6262656	129272091	174	38779											
CUBN	8029	genome.wustl.edu	37	chr10	16967377	16967377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaaaaatgaccatttcctCcagggggtcccaagggtgga	12	7	11	11	0	0	1	0	1	0	0	3	2	3	2	4	4	0	0	4	4	3	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:16967377C>A	ENST00000377833.4	-	43	6574	c.6509G>T	c.(6508-6510)gGa>gTa	p.G2170V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2170	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)	ACCATTTCCTCCAGGGGGTCC	0.398																																																	0													59	61	60					10																	16967377		2203	4300	6503	SO:0001583	missense	0			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.6509G>T	10.37:g.16967377C>A	ENSP00000367064:p.Gly2170Val		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.G2170V	ENST00000377833.4	37	c.6509	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755463	0.49362	.	.	ENSG00000107611	ENST00000377833	T	0.28666	1.6	5.02	4.11	0.48088	CUB (5);	0.299519	0.24156	N	0.041039	T	0.48370	0.1496	M	0.73217	2.22	0.80722	D	1	D	0.65815	0.995	D	0.63703	0.917	T	0.39981	-0.9587	10	0.49607	T	0.09	.	9.94	0.41574	0.0:0.7817:0.1417:0.0766	.	2170	O60494	CUBN_HUMAN	V	2170	ENSP00000367064:G2170V	ENSP00000367064:G2170V	G	-	2	0	CUBN	17007383	0.973000	0.33851	0.994000	0.49952	0.754000	0.42855	2.081000	0.41596	2.778000	0.95560	0.655000	0.94253	GGA	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1		0	115	0	C	NM_001081		16967377	-1			no_errors	ENST00000377833	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.911	A	A	16967377	C	A	16967377	3	1	152	1	0	0	0	0	1	0	0	0	4060	855	30	3	4462	3	CUBN	10	16967377	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	10704721	16967377	118567370	175	38780											
MLLT10	8028	genome.wustl.edu	37	chr10	22015231	22015231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcatatgtatggcaataGatcaaattcatcaatggcag	15	12	7	7	0	4	1	4	0	1	1	5	1	4	1	0	2	0	3	0	2	6	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:22015231G>T	ENST00000307729.7	+	15	2115	c.1937G>T	c.(1936-1938)aGa>aTa	p.R646I	MLLT10_ENST00000446906.2_Missense_Mutation_p.R646I|MLLT10_ENST00000377072.3_Missense_Mutation_p.R662I|MLLT10_ENST00000377059.3_Missense_Mutation_p.R646I			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	646	DNA-binding.				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						TATGGCAATAGATCAAATTCA	0.338			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													168	182	178					10																	22015231		2203	4299	6502	SO:0001583	missense	0			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.1937G>T	10.37:g.22015231G>T	ENSP00000307411:p.Arg646Ile		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R646I	ENST00000307729.7	37	c.1937	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547801	0.65311	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.59436	1.845	0.38788	D	0.954923	D;D;P;D	0.76494	0.999;0.998;0.845;0.998	D;D;B;D	0.83275	0.996;0.991;0.169;0.991	T	0.01587	-1.1318	10	0.72032	D	0.01	.	15.1199	0.72434	0.0:0.1402:0.8597:0.0	.	341;646;646;662	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	I	662;646;646;481;646;305;304	ENSP00000366272:R662I;ENSP00000401406:R646I;ENSP00000307411:R646I;ENSP00000366258:R646I	ENSP00000307411:R646I	R	+	2	0	MLLT10	22055237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.566000	0.82347	2.655000	0.90218	0.650000	0.86243	AGA	MLLT10	-	NULL	ENSG00000078403		0.338	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	-	0	65	0	G			22015231	1	tier1	-	no_errors	ENST00000307729	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	22015231	G	T	22015231	3	4	152	1	0	0	0	0	1	0	0	0	9664	942	33	3	2043	3	MLLT10	10	22015231	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	5047854	22015231	113519516	176	38781											
ZNF33A	7581	genome.wustl.edu	37	chr10	38344667	38344667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccttctgcttgaagtcaGacctcacagtacatcagaga	14	9	7	11	0	4	3	3	1	1	2	4	4	4	3	2	0	3	2	2	0	3	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:38344667G>T	ENST00000458705.2	+	5	1770	c.1612G>T	c.(1612-1614)Gac>Tac	p.D538Y	ZNF33A_ENST00000432900.2_Missense_Mutation_p.D545Y|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.D539Y|ZNF33A_ENST00000307441.9_Missense_Mutation_p.D538Y			Q06730	ZN33A_HUMAN	zinc finger protein 33A	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)|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						CTTGAAGTCAGACCTCACAGT	0.423																																																	0													104	104	104					10																	38344667		2203	4300	6503	SO:0001583	missense	0			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.1612G>T	10.37:g.38344667G>T	ENSP00000387713:p.Asp538Tyr		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D545Y	ENST00000458705.2	37	c.1633	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	G	4.115	0.019449	0.08006	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	1.68	0.446	0.16602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35903	N	0.002906	T	0.08758	0.0217	L	0.31294	0.92	0.09310	N	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.68353	0.927;0.957;0.929	T	0.30621	-0.9972	10	0.02654	T	1	.	2.6382	0.04964	0.2197:0.3148:0.4655:0.0	.	545;538;539	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	Y	539;545;538;538	ENSP00000363747:D539Y;ENSP00000402467:D545Y;ENSP00000387713:D538Y;ENSP00000304268:D538Y	ENSP00000304268:D538Y	D	+	1	0	ZNF33A	38384673	0.000000	0.05858	0.992000	0.48379	0.602000	0.36980	-1.940000	0.01543	0.897000	0.36392	0.305000	0.20034	GAC	ZNF33A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189180		0.423	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1		0	76	0	G	NM_006974		38344667	1			no_errors	ENST00000432900	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.000	T	T	38344667	G	T	38344667	3	4	152	1	0	0	0	0	1	0	0	0	17902	942	33	3	1629	3	ZNF33A	10	38344667	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	16329436	38344667	97190080	177	38782											
CSTF2T	23283	genome.wustl.edu	37	chr10	53458771	53458771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctctggatccatgattCtcatcactacttgtgcctgc	8	14	6	13	0	3	1	2	1	2	0	6	2	4	2	2	1	3	0	2	1	2	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:53458771C>A	ENST00000331173.4	-	1	584	c.539G>T	c.(538-540)aGa>aTa	p.R180I	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	180					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		ATCCATGATTCTCATCACTAC	0.463																																																	0													200	180	187					10																	53458771		2203	4300	6503	SO:0001583	missense	0			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.539G>T	10.37:g.53458771C>A	ENSP00000332444:p.Arg180Ile		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R180I	ENST00000331173.4	37	c.539	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136445	0.77662	.	.	ENSG00000177613	ENST00000331173	T	0.25085	1.82	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.86502	2.82	0.80722	D	1	D	0.67145	0.996	D	0.69142	0.962	T	0.62849	-0.6767	10	0.87932	D	0	-15.0556	16.4201	0.83755	0.0:1.0:0.0:0.0	.	180	Q9H0L4	CSTFT_HUMAN	I	180	ENSP00000332444:R180I	ENSP00000332444:R180I	R	-	2	0	CSTF2T	53128777	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.130000	0.77235	2.824000	0.97209	0.655000	0.94253	AGA	CSTF2T	-	NULL	ENSG00000177613		0.463	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	-	0	38	0	C	NM_015235		53458771	-1	tier1	-	no_errors	ENST00000331173	ensembl	human	known	74_37	missense	10.00	26	3	SNP	1.000	A	A	53458771	C	A	53458771	3	1	152	1	0	0	0	0	1	0	0	0	3994	913	32	3	1315	3	CSTF2T	10	53458771	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	15114104	53458771	82075976	178	38783											
PRKG1	5592	genome.wustl.edu	37	chr10	54048563	54048563	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacatgatagaatttccaaAgaagattgccaaaaatgctg	17	10	8	6	0	0	5	0	2	0	3	1	5	1	5	2	0	2	1	2	0	6	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:54048563A>C	ENST00000401604.2	+	15	1936	c.1742A>C	c.(1741-1743)aAg>aCg	p.K581T	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.K569T|PRKG1_ENST00000373980.4_Missense_Mutation_p.K596T|PRKG1_ENST00000373975.2_Missense_Mutation_p.K299T|PRKG1-AS1_ENST00000426785.2_RNA			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		GAATTTCCAAAGAAGATTGCC	0.338																																																	0													78	80	79					10																	54048563		2203	4300	6503	SO:0001583	missense	0				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.1742A>C	10.37:g.54048563A>C	ENSP00000384200:p.Lys581Thr		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom	p.K596T	ENST00000401604.2	37	c.1787	CCDS44399.1	10	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215166	0.79352	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.08282	3.11;3.11;3.11	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	L	0.33189	0.99	0.80722	D	1	B;P;P	0.45474	0.032;0.859;0.768	B;P;B	0.48815	0.026;0.591;0.42	T	0.02320	-1.1177	10	0.52906	T	0.07	-11.9431	14.8289	0.70132	1.0:0.0:0.0:0.0	.	299;596;581	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	T	581;569;596;299;193	ENSP00000384200:K581T;ENSP00000363097:K569T;ENSP00000363092:K596T	ENSP00000327642:K299T	K	+	2	0	PRKG1	53718569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	1.978000	0.57642	0.533000	0.62120	AAG	PRKG1	-	pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000185532		0.338	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	HGNC	protein_coding		-	0	104	0	A			54048563	1	tier1	-	no_errors	ENST00000373980	ensembl	human	known	74_37	missense	18.85	99	23	SNP	1.000	C	C	54048563	A	C	54048563	3	2	152	1	0	0	0	0	1	0	0	0	12564	72	3	4	2115	4	PRKG1	10	54048563	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	589792	54048563	81486184	179	38784											
PCDH15	65217	genome.wustl.edu	37	chr10	55892660	55892660	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttaataaaacagcaccaAccctcatggcttcactaatt	15	11	4	11	0	2	0	2	0	0	0	2	1	2	0	2	1	3	2	2	1	5	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:55892660A>C	ENST00000320301.6	-	15	2286	c.1892T>G	c.(1891-1893)gTt>gGt	p.V631G	PCDH15_ENST00000361849.3_Missense_Mutation_p.V631G|PCDH15_ENST00000373965.2_Missense_Mutation_p.V638G|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.V631G|PCDH15_ENST00000373957.3_Missense_Mutation_p.V609G|PCDH15_ENST00000395445.1_Missense_Mutation_p.V638G|PCDH15_ENST00000373955.1_Missense_Mutation_p.V631G|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.V242G|PCDH15_ENST00000395430.1_Missense_Mutation_p.V631G|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.V631G|PCDH15_ENST00000414778.1_Missense_Mutation_p.V636G|PCDH15_ENST00000395432.2_Missense_Mutation_p.V594G|PCDH15_ENST00000395433.1_Missense_Mutation_p.V609G	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	631	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACAGCACCAACCCTCATGGC	0.398										HNSCC(58;0.16)																																							0													114	93	100					10																	55892660		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1892T>G	10.37:g.55892660A>C	ENSP00000322604:p.Val631Gly		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V631G	ENST00000320301.6	37	c.1892	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	A	16.90	3.249665	0.59212	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;1.02;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.67	5.67	0.87782	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.68128	0.2967	M	0.80616	2.505	0.80722	D	1	B;P;P;P;P;B;B;P;P;B;B;B;P;P	0.42337	0.452;0.607;0.607;0.607;0.776;0.452;0.29;0.741;0.741;0.29;0.174;0.144;0.464;0.776	P;P;P;P;P;P;B;P;P;B;B;B;B;P	0.51297	0.574;0.471;0.471;0.471;0.574;0.574;0.333;0.464;0.665;0.405;0.201;0.171;0.262;0.653	T	0.72821	-0.4177	9	0.87932	D	0	.	15.19	0.73035	1.0:0.0:0.0:0.0	.	609;631;631;636;594;631;631;638;638;631;636;631;609;631	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	G	638;636;631;631;242;638;631;594;631;609;609;631;631;636;631	ENSP00000363076:V638G;ENSP00000410304:V636G;ENSP00000378826:V631G;ENSP00000386693:V242G;ENSP00000378832:V638G;ENSP00000378833:V631G;ENSP00000378820:V594G;ENSP00000354950:V631G;ENSP00000378821:V609G;ENSP00000363068:V609G;ENSP00000322604:V631G;ENSP00000378818:V631G;ENSP00000363066:V631G	ENSP00000322604:V631G	V	-	2	0	PCDH15	55562666	0.992000	0.36948	1.000000	0.80357	0.994000	0.84299	3.036000	0.49767	2.289000	0.77006	0.482000	0.46254	GTT	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150275		0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	108	0	A	NM_033056		55892660	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	33.33	64	32	SNP	1.000	C	C	55892660	A	C	55892660	3	2	152	1	0	0	0	0	1	0	0	0	11550	43	2	4	5670	4	PCDH15	10	55892660	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	1844097	55892660	79642087	180	38785											
CTNNA3	29119	genome.wustl.edu	37	chr10	69366709	69366709	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttgtctaataaattccaAgttgcttcctccacagaagc	11	12	5	13	0	1	1	0	0	1	1	4	1	4	1	4	0	2	2	4	0	5	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:69366709A>C	ENST00000433211.2	-	3	372	c.198T>G	c.(196-198)acT>acG	p.T66T	CTNNA3_ENST00000373744.4_Silent_p.T66T|CTNNA3_ENST00000545309.1_Silent_p.T66T	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						ATAAATTCCAAGTTGCTTCCT	0.453																																																	0													137	136	136					10																	69366709		2203	4300	6503	SO:0001819	synonymous_variant	0			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.198T>G	10.37:g.69366709A>C				Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.T66	ENST00000433211.2	37	c.198	CCDS7269.1	10																																																																																			CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000183230		0.453	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	-	0	93	0	A	NM_013266		69366709	-1	tier1	-	no_errors	ENST00000373744	ensembl	human	known	74_37	silent	15.05	79	14	SNP	0.162	C	C	69366709	A	C	69366709	2	2	152	1	0	0	0	0	0	0	0	1	4023	59	3	4		4	CTNNA3	10	69366709	Silent	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	13474049	69366709	66168038	181	38786											
TET1	80312	genome.wustl.edu	37	chr10	70333166	70333166	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctactgcaaatcaacaggaAgtttctgataccacctcttt	12	12	6	11	0	3	1	1	1	2	0	3	2	3	2	2	1	4	3	2	1	5	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:70333166A>C	ENST00000373644.4	+	2	1280	c.1071A>C	c.(1069-1071)gaA>gaC	p.E357D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	357					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						ATCAACAGGAAGTTTCTGATA	0.498																																																	0													132	139	136					10																	70333166		2203	4300	6503	SO:0001583	missense	0			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.1071A>C	10.37:g.70333166A>C	ENSP00000362748:p.Glu357Asp		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.E357D	ENST00000373644.4	37	c.1071	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	A	9.992	1.231053	0.22626	.	.	ENSG00000138336	ENST00000373644	T	0.06933	3.24	4.92	-0.0723	0.13740	.	1.162350	0.06426	N	0.723190	T	0.05777	0.0151	N	0.24115	0.695	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.43278	-0.9401	10	0.38643	T	0.18	.	3.8407	0.08912	0.5101:0.1901:0.2998:0.0	.	357	Q8NFU7	TET1_HUMAN	D	357	ENSP00000362748:E357D	ENSP00000362748:E357D	E	+	3	2	TET1	70003172	0.001000	0.12720	0.085000	0.20634	0.945000	0.59286	0.333000	0.19768	0.078000	0.16900	0.460000	0.39030	GAA	TET1	-	NULL	ENSG00000138336		0.498	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	-	0	75	0	A	NM_030625		70333166	1	tier1	-	no_errors	ENST00000373644	ensembl	human	known	74_37	missense	38.33	37	23	SNP	0.024	C	C	70333166	A	C	70333166	3	2	152	1	0	0	0	0	1	0	0	0	15816	69	3	4	1073	4	TET1	10	70333166	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	966457	70333166	65201581	182	38787											
IFIT3	3437	genome.wustl.edu	37	chr10	91098459	91098459	+	Missense_Mutation	SNP	T	T	C	0	1	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	ggagaaaatccttccacagcTgaaatgccatttcacctgga	13	9	8	11	0	1	2	1	1	0	1	3	4	3	3	4	2	2	1	4	2	3	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:91098459T>C	ENST00000371818.4	+	2	227	c.47T>C	c.(46-48)cTg>cCg	p.L16P	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.L16P|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	16					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTTCCACAGCTGAAATGCCAT	0.428																																																	0													67	67	67					10																	91098459		2203	4300	6503	SO:0001583	missense	0			U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"Tetratricopeptide (TTC) repeat domain containing"	5411	protein-coding gene	gene with protein product		604650	"interferon-induced protein with tetratricopeptide repeats 4"	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.47T>C	10.37:g.91098459T>C	ENSP00000360883:p.Leu16Pro		Q99634|Q9BSK7	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L16P	ENST00000371818.4	37	c.47	CCDS7402.1	10	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000370	0.74818	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	T;T	0.61627	0.09;0.09	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000002	T	0.79770	0.4503	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83919	0.0300	10	0.87932	D	0	-5.8043	15.2797	0.73773	0.0:0.0:0.0:1.0	.	16	O14879	IFIT3_HUMAN	P	16	ENSP00000360883:L16P;ENSP00000360876:L16P	ENSP00000360876:L16P	L	+	2	0	IFIT3	91088439	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.783000	0.68982	2.343000	0.79666	0.533000	0.62120	CTG	IFIT3	-	NULL	ENSG00000119917		0.428	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT3	HGNC	protein_coding	OTTHUMT00000049294.1	-	0	55	0	T	NM_001549		91098459	1	tier1	-	no_errors	ENST00000371811	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	C	C	91098459	T	C	91098459	3	2	152	1	0	0	0	0	1	0	0	0	7551	1580	55	4	62	4	IFIT3	10	91098459	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	20765293	91098459	44436288	183	38788											
HPS1	3257	genome.wustl.edu	37	chr10	100185457	100185457	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcagctgggacagaaccagGgccaggggcgcgctggggct	8	4	18	11	2	1	1	1	0	0	1	1	2	1	2	2	6	2	3	2	6	1	0	rs370108188		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:100185457G>C	ENST00000325103.6	-	13	1409	c.1176C>G	c.(1174-1176)gcC>gcG	p.A392A	HPS1_ENST00000361490.4_Silent_p.A392A|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	392					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACAGAACCAGGGCCAGGGGCG	0.682									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G		0,4404		0,0,2202	26	32	30		1176	2	1	10		30	1,8599		0,1,4299	no	coding-synonymous	HPS1	NM_000195.3		0,1,6501	CC,CG,GG		0.0116,0.0,0.0077		392/701	100185457	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0	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.1176C>G	10.37:g.100185457G>C		1349	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	NULL	p.A392	ENST00000325103.6	37	c.1176	CCDS7475.1	10																																																																																			HPS1	-	NULL	ENSG00000107521		0.682	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS1	HGNC	protein_coding	OTTHUMT00000049776.1	-	0	105	0	G	NM_000195, NM_182637, NM_182638, NM_182639		100185457	-1	tier1	-	no_errors	ENST00000325103	ensembl	human	known	74_37	silent	16.67	100	20	SNP	0.995	C	C	100185457	G	C	100185457	2	2	152	1	0	0	0	0	0	0	0	1	7366	1219	43	5		5	HPS1	10	100185457	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	9086998	100185457	35349290	184	38789											
SORCS3	22986	genome.wustl.edu	37	chr10	106960984	106960984	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atcagtggtctcagaaccctGtgtctgtgccaattgggact	8	12	11	10	0	3	1	2	0	2	1	4	2	3	2	2	2	2	0	2	2	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:106960984G>T	ENST00000369701.3	+	16	2461	c.2234G>T	c.(2233-2235)tGt>tTt	p.C745F	SORCS3_ENST00000369699.4_Missense_Mutation_p.C31F	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	745					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)		TCAGAACCCTGTGTCTGTGCC	0.517																																					NSCLC(116;1497 1690 7108 13108 14106)												0													138	121	127					10																	106960984		2203	4300	6503	SO:0001583	missense	0			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.2234G>T	10.37:g.106960984G>T	ENSP00000358715:p.Cys745Phe		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.C745F	ENST00000369701.3	37	c.2234	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707881	0.89018	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.66460	0.83;-0.21	5.78	5.78	0.91487	VPS10 (1);	0.000000	0.85682	D	0.000000	D	0.87410	0.6170	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89840	0.4002	9	.	.	.	.	20.0215	0.97504	0.0:0.0:1.0:0.0	.	745	Q9UPU3	SORC3_HUMAN	F	745;31	ENSP00000358715:C745F;ENSP00000358713:C31F	.	C	+	2	0	SORCS3	106950974	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.269000	0.95684	2.735000	0.93741	0.650000	0.86243	TGT	SORCS3	-	smart_VPS10	ENSG00000156395		0.517	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0	82	0	G	NM_014978		106960984	1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	15.94	58	11	SNP	1.000	T	T	106960984	G	T	106960984	3	4	152	1	0	0	0	0	1	0	0	0	14977	1377	48	3	2296	3	SORCS3	10	106960984	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	6775527	106960984	28573763	185	38790											
SORCS3	22986	genome.wustl.edu	37	chr10	107016622	107016622	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacagcagctcagccatgcTtatgctattatcagtggtat	10	12	9	10	0	2	0	2	0	0	0	2	0	2	0	1	1	5	6	1	1	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:107016622T>G	ENST00000369701.3	+	25	3610	c.3383T>G	c.(3382-3384)cTt>cGt	p.L1128R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1128					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)		TCAGCCATGCTTATGCTATTA	0.433																																					NSCLC(116;1497 1690 7108 13108 14106)												0													171	145	154					10																	107016622		2203	4300	6503	SO:0001583	missense	0			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.3383T>G	10.37:g.107016622T>G	ENSP00000358715:p.Leu1128Arg		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.L1128R	ENST00000369701.3	37	c.3383	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341329	0.81911	.	.	ENSG00000156395	ENST00000369701	T	0.18338	2.22	5.93	4.81	0.61882	.	0.160324	0.41097	D	0.000941	T	0.35008	0.0917	L	0.55481	1.735	0.51482	D	0.999924	D	0.89917	1.0	D	0.83275	0.996	T	0.02450	-1.1157	9	.	.	.	.	11.9097	0.52733	0.0:0.0674:0.0:0.9326	.	1128	Q9UPU3	SORC3_HUMAN	R	1128	ENSP00000358715:L1128R	.	L	+	2	0	SORCS3	107006612	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.606000	0.82863	1.089000	0.41292	0.533000	0.62120	CTT	SORCS3	-	NULL	ENSG00000156395		0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0	93	0	T	NM_014978		107016622	1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	G	G	107016622	T	G	107016622	3	3	152	1	0	0	0	0	1	0	0	0	14977	1609	56	4	3481	4	SORCS3	10	107016622	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	55638	107016622	28518125	186	38791											
GPR26	2849	genome.wustl.edu	37	chr10	125434382	125434382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcggaggcgacagcgagcCaccaagaagatcagcacctt	14	3	12	12	3	1	2	1	0	0	2	1	5	1	3	3	2	4	1	3	2	3	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:125434382C>T	ENST00000284674.1	+	2	770	c.717C>T	c.(715-717)gcC>gcT	p.A239A		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	239					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GACAGCGAGCCACCAAGAAGA	0.567																																																	0													190	144	160					10																	125434382		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.717C>T	10.37:g.125434382C>T			Q2M2E2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A239	ENST00000284674.1	37	c.717	CCDS7636.1	10																																																																																			GPR26	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000154478		0.567	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR26	HGNC	protein_coding	OTTHUMT00000050850.1	-	0	48	0	C			125434382	1	tier1	-	no_errors	ENST00000284674	ensembl	human	known	74_37	silent	40.00	21	14	SNP	1.000	T	T	125434382	C	T	125434382	2	4	152	1	0	0	0	0	0	0	0	1	6710	581	21	3		3	GPR26	10	125434382	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	18417760	125434382	10100365	187	38792											
DOCK1	1793	genome.wustl.edu	37	chr10	129242502	129242502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagcaaacaccccctcCagttacaccaagggccaagc	12	4	6	19	0	0	0	0	0	0	0	2	0	2	0	6	1	4	2	6	1	4	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:129242502C>A	ENST00000280333.6	+	50	5418	c.5309C>A	c.(5308-5310)cCa>cAa	p.P1770Q		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1770					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)		ACACCCCCTCCAGTTACACCA	0.587																																																	0													83	95	91					10																	129242502		2092	4211	6303	SO:0001583	missense	0			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.5309C>A	10.37:g.129242502C>A	ENSP00000280333:p.Pro1770Gln		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.P1770Q	ENST00000280333.6	37	c.5309		10	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370862	0.61624	.	.	ENSG00000150760	ENST00000280333	T	0.04406	3.63	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	M	0.63843	1.955	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	T	0.00333	-1.1810	10	0.49607	T	0.09	.	17.8963	0.88890	0.0:1.0:0.0:0.0	.	1770;1770	B2RUU3;Q14185	.;DOCK1_HUMAN	Q	1770	ENSP00000280333:P1770Q	ENSP00000280333:P1770Q	P	+	2	0	DOCK1	129132492	1.000000	0.71417	0.936000	0.37596	0.216000	0.24613	7.048000	0.76606	2.456000	0.83038	0.655000	0.94253	CCA	DOCK1	-	NULL	ENSG00000150760		0.587	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	-	0	56	0	C	NM_001380		129242502	1	tier1	-	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	129242502	C	A	129242502	3	1	152	1	0	0	0	0	1	0	0	0	4698	594	21	3	5507	3	DOCK1	10	129242502	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	3808120	129242502	6292245	188	38793											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133930772	133930772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggtcatcaagatcaaGgacaacgagaaccagcggct	14	5	11	11	2	4	2	4	0	0	2	4	4	4	3	1	3	3	1	1	3	4	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr10:133930772G>T	ENST00000298622.4	+	2	465	c.327G>T	c.(325-327)aaG>aaT	p.K109N		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	109						Golgi apparatus (GO:0005794)		p.K109K(1)		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)		TCAAGATCAAGGACAACGAGA	0.607																																																	1	Substitution - coding silent(1)	lung(1)											59	73	68					10																	133930772		2187	4278	6465	SO:0001583	missense	0			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.327G>T	10.37:g.133930772G>T	ENSP00000298622:p.Lys109Asn		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.K109N	ENST00000298622.4	37	c.327	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704706	0.68615	.	.	ENSG00000188385	ENST00000298622	T	0.38240	1.15	4.49	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	M	0.66297	2.02	0.35312	D	0.783945	D	0.89917	1.0	D	0.85130	0.997	T	0.55392	-0.8148	10	0.21540	T	0.41	-38.2766	5.5224	0.16939	0.3195:0.0:0.6805:0.0	.	109	Q5VZ66	JKIP3_HUMAN	N	109	ENSP00000298622:K109N	ENSP00000298622:K109N	K	+	3	2	JAKMIP3	133780762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.201000	0.42734	2.345000	0.79718	0.485000	0.47835	AAG	JAKMIP3	-	NULL	ENSG00000188385		0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3		0	45	0	G	NM_194303		133930772	1			no_errors	ENST00000298622	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	133930772	G	T	133930772	3	4	152	1	0	0	0	0	1	0	0	0	7969	991	35	3	333	3	JAKMIP3	10	133930772	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	4688270	133930772	1603975	189	38794											
HBE1	3046	genome.wustl.edu	37	chr11	5290789	5290789	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaatagcatctccaaaggaAgtcagcaccttcttgccatg	12	11	7	11	0	3	0	1	0	2	0	4	1	3	1	3	1	3	2	3	1	4	4	rs202129332		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:5290789A>C	ENST00000380237.1	-	4	554	c.210T>G	c.(208-210)acT>acG	p.T70T	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.T70T|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	70					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.T70T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCAAAGGAAGTCAGCACCT	0.517																																																	1	Substitution - coding silent(1)	large_intestine(1)											133	120	124					11																	5290789		2201	4297	6498	SO:0001819	synonymous_variant	0			BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.210T>G	11.37:g.5290789A>C			Q6FH44	Silent	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.T70	ENST00000380237.1	37	c.210	CCDS7756.1	11																																																																																			HBE1	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Myoglobin	ENSG00000213931		0.517	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBE1	HGNC	protein_coding	OTTHUMT00000142973.2	-	0	125	0	A	NM_005330		5290789	-1	tier1	-	no_errors	ENST00000292896	ensembl	human	known	74_37	silent	35.76	97	54	SNP	0.052	C	C	5290789	A	C	5290789	2	2	152	1	0	0	0	0	0	0	0	1	7007	59	3	4		4	HBE1	11	5290789	Silent	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09		5290789	129715727	190	38795											
OR51B2	79345	genome.wustl.edu	37	chr11	5344869	5344869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgcctatgacagtattaAgaattagaatataggagaag	18	10	9	4	0	0	4	0	1	0	3	0	5	0	4	1	1	1	1	1	1	10	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:5344869A>G	ENST00000328813.2	-	1	713	c.659T>C	c.(658-660)cTt>cCt	p.L220P	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAGTATTAAGAATTAGAAT	0.373																																																	0													59	59	59					11																	5344869		2200	4297	6497	SO:0001583	missense	0			AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"GPCR / Class A : Olfactory receptors"	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.659T>C	11.37:g.5344869A>G	ENSP00000327540:p.Leu220Pro		Q96RD4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L220P	ENST00000328813.2	37	c.659	CCDS31377.1	11	.	.	.	.	.	.	.	.	.	.	A	9.560	1.118276	0.20877	.	.	ENSG00000184881	ENST00000328813	T	0.00249	8.44	4.28	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.226124	0.22221	U	0.062946	T	0.00440	0.0014	H	0.94582	3.555	0.09310	N	0.999998	B	0.32604	0.377	B	0.41202	0.35	T	0.06770	-1.0808	10	0.87932	D	0	.	8.9618	0.35851	0.9097:0.0:0.0903:0.0	.	220	Q9Y5P1	O51B2_HUMAN	P	220	ENSP00000327540:L220P	ENSP00000327540:L220P	L	-	2	0	OR51B2	5301445	0.014000	0.17966	0.623000	0.29173	0.564000	0.35744	2.800000	0.47900	0.701000	0.31803	0.524000	0.50904	CTT	OR51B2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184881		0.373	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B2	HGNC	protein_coding	OTTHUMT00000142983.1	-	0	68	0	A	NM_033180		5344869	-1	tier1	-	no_errors	ENST00000328813	ensembl	human	known	74_37	missense	20.83	57	15	SNP	0.007	G	G	5344869	A	G	5344869	3	3	152	1	0	0	0	0	1	0	0	0	11128	72	3	4	283	4	OR51B2	11	5344869	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	54080	5344869	129661647	191	38796											
TRIM22	10346	genome.wustl.edu	37	chr11	5717484	5717484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatttctcagtaaaggtaGacatagagaaggaggtgacc	14	9	13	5	0	1	3	1	1	1	2	2	6	1	5	1	4	0	2	1	4	5	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:5717484G>A	ENST00000379965.3	+	2	299	c.22G>A	c.(22-24)Gac>Aac	p.D8N	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	8					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)		AGTAAAGGTAGACATAGAGAA	0.512																																					GBM(104;491 2336 5222)												0													80	86	84					11																	5717484		2201	4297	6498	SO:0001583	missense	0			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.22G>A	11.37:g.5717484G>A	ENSP00000369299:p.Asp8Asn		Q05CQ0|Q15521	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.D8N	ENST00000379965.3	37	c.22	CCDS41612.1	11	.	.	.	.	.	.	.	.	.	.	G	2.288	-0.363192	0.05103	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000454828;ENST00000414641;ENST00000455293	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	4.82	1.06	0.20224	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.61602	0.2360	N	0.03194	-0.395	0.09310	N	1	B;B;B	0.15719	0.001;0.014;0.001	B;B;B	0.16722	0.0;0.016;0.003	T	0.50499	-0.8821	9	0.02654	T	1	.	7.3684	0.26787	0.6895:0.0:0.3105:0.0	.	8;8;8	C9JWC5;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	N	8	ENSP00000369299:D8N;ENSP00000400417:D8N;ENSP00000393250:D8N;ENSP00000396849:D8N	ENSP00000369299:D8N	D	+	1	0	TRIM22	5674060	0.000000	0.05858	0.000000	0.03702	0.259000	0.26198	-0.549000	0.06041	-0.003000	0.14444	0.467000	0.42956	GAC	TRIM22	-	NULL	ENSG00000132274		0.512	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM22	HGNC	protein_coding	OTTHUMT00000143387.2	-	0	71	0	G	NM_006074		5717484	1	tier1	-	no_errors	ENST00000379965	ensembl	human	known	74_37	missense	39.02	49	32	SNP	0.000	A	A	5717484	G	A	5717484	3	1	152	1	0	0	0	0	1	0	0	0	16544	942	33	3	24	3	TRIM22	11	5717484	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	372615	5717484	129289032	192	38797											
RBMXL2	27288	genome.wustl.edu	37	chr11	7111080	7111080	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtacacccaccgcgattaCggccactccagtgtccggga	9	6	11	15	4	0	0	0	0	0	0	2	3	2	1	5	2	2	1	5	2	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:7111080C>T	ENST00000306904.5	+	1	916	c.729C>T	c.(727-729)taC>taT	p.Y243Y		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	243	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACCGCGATTACGGCCACTCCA	0.647																																																	0													23	25	25					11																	7111080		2193	4286	6479	SO:0001819	synonymous_variant	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.729C>T	11.37:g.7111080C>T			Q6PEZ2|Q9NQU0	Silent	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.Y243	ENST00000306904.5	37	c.729	CCDS7777.1	11																																																																																			RBMXL2	-	NULL	ENSG00000170748		0.647	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	-	0	32	0	C	NM_014469		7111080	1	tier1	-	no_errors	ENST00000306904	ensembl	human	known	74_37	silent	36.11	23	13	SNP	1.000	T	T	7111080	C	T	7111080	2	4	152	1	0	0	0	0	0	0	0	1	13199	547	19	1		1	RBMXL2	11	7111080	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	1393596	7111080	127895436	193	38798											
MRVI1	10335	genome.wustl.edu	37	chr11	10650359	10650359	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagaagcgctggggctGaggttcggggaaacagctgt	9	7	19	6	2	0	2	0	1	0	1	1	4	0	3	0	6	3	5	0	6	3	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:10650359G>T	ENST00000436272.1	-	5	642	c.564C>A	c.(562-564)ctC>ctA	p.L188L	MRVI1_ENST00000531107.1_Silent_p.L188L|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000532037.1_5'Flank|MRVI1_ENST00000541483.1_Silent_p.L197L|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000552103.1_Silent_p.L106L|MRVI1_ENST00000547195.1_Silent_p.L106L|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000421747.1_Silent_p.L188L|MRVI1_ENST00000423302.2_Silent_p.L197L|MRVI1_ENST00000527509.2_Silent_p.L106L|MRVI1_ENST00000545852.1_5'UTR			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	188					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGCTGGGGCTGAGGTTCGGGG	0.567																																																	0													42	55	51					11																	10650359		2034	4190	6224	SO:0001819	synonymous_variant	0			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.564C>A	11.37:g.10650359G>T			B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	pfam_MRVI1	p.L188	ENST00000436272.1	37	c.564		11																																																																																			MRVI1	-	NULL	ENSG00000072952		0.567	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		-	0	67	0	G	NM_001098579		10650359	-1	tier1	-	no_errors	ENST00000421747	ensembl	human	known	74_37	silent	30.09	79	34	SNP	0.998	T	T	10650359	G	T	10650359	2	4	152	1	0	0	0	0	0	0	0	1	9891	1277	45	3		3	MRVI1	11	10650359	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	3539279	10650359	124356157	194	38799											
MRGPRX1	259249	genome.wustl.edu	37	chr11	18955913	18955913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcaggacacacaccaccGctgacaggtgtgtggggcgg	10	4	16	11	2	0	2	0	1	0	1	0	3	0	3	2	5	1	2	2	5	0	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:18955913G>A	ENST00000302797.3	-	1	643	c.419C>T	c.(418-420)gCg>gTg	p.A140V	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	140					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACACACCACCGCTGACAGGTG	0.617																																																	0													89	77	81					11																	18955913		2194	4285	6479	SO:0001583	missense	0				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.419C>T	11.37:g.18955913G>A	ENSP00000305766:p.Ala140Val		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A140V	ENST00000302797.3	37	c.419	CCDS7846.1	11	.	.	.	.	.	.	.	.	.	.	.	8.356	0.832074	0.16820	.	.	ENSG00000170255	ENST00000302797	T	0.36157	1.27	2.28	0.276	0.15663	GPCR, rhodopsin-like superfamily (1);	0.178502	0.39615	N	0.001310	T	0.35128	0.0921	M	0.74647	2.275	0.09310	N	1	B	0.29085	0.232	B	0.30572	0.117	T	0.26643	-1.0097	10	0.42905	T	0.14	.	8.91	0.35548	0.2469:0.0:0.7531:0.0	.	140	Q96LB2	MRGX1_HUMAN	V	140	ENSP00000305766:A140V	ENSP00000305766:A140V	A	-	2	0	MRGPRX1	18912489	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.069000	0.03444	-0.205000	0.10219	-1.579000	0.00862	GCG	MRGPRX1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000170255		0.617	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	-	0	45	0	G	NM_147199		18955913	-1	tier1	-	no_errors	ENST00000302797	ensembl	human	known	74_37	missense	50.00	30	30	SNP	0.003	A	A	18955913	G	A	18955913	3	1	152	1	0	0	0	0	1	0	0	0	9804	1087	38	1	553	1	MRGPRX1	11	18955913	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	8305554	18955913	116050603	195	38800											
MUC15	143662	genome.wustl.edu	37	chr11	26584732	26584732	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcctttttccacacaacaAgtagcccacaagagtaagca	14	10	5	12	0	0	1	0	0	0	1	2	1	2	1	3	0	3	3	3	0	5	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:26584732A>C	ENST00000455601.2	-	3	893	c.775T>G	c.(775-777)Ttg>Gtg	p.L259V	MUC15_ENST00000436318.2_Missense_Mutation_p.L286V|MUC15_ENST00000281268.8_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.L286V|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	259					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						CCACACAACAAGTAGCCCACA	0.388																																																	0													116	119	118					11																	26584732		2203	4300	6503	SO:0001583	missense	0			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.775T>G	11.37:g.26584732A>C	ENSP00000397339:p.Leu259Val		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	NULL	p.L286V	ENST00000455601.2	37	c.856	CCDS7859.1	11	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628694	0.67015	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000529533	T;T;T	0.36699	1.28;1.24;1.24	4.39	-1.48	0.08745	.	0.195208	0.22261	N	0.062409	T	0.19967	0.0480	L	0.29908	0.895	0.80722	D	1	B;B	0.30709	0.291;0.291	B;B	0.26693	0.072;0.072	T	0.02837	-1.1104	10	0.66056	D	0.02	-13.8504	5.5668	0.17175	0.5608:0.1374:0.3018:0.0	.	259;286	Q8N387;E9PII6	MUC15_HUMAN;.	V	259;286;286	ENSP00000397339:L259V;ENSP00000416753:L286V;ENSP00000431983:L286V	ENSP00000416753:L286V	L	-	1	2	MUC15	26541308	1.000000	0.71417	0.920000	0.36463	0.989000	0.77384	1.388000	0.34442	-0.193000	0.10415	-0.478000	0.04885	TTG	MUC15	-	NULL	ENSG00000169550		0.388	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1	-	0	147	0	A	NM_145650		26584732	-1	tier1	-	no_errors	ENST00000436318	ensembl	human	known	74_37	missense	37.67	91	55	SNP	0.962	C	C	26584732	A	C	26584732	3	2	152	1	0	0	0	0	1	0	0	0	10010	69	3	4	237	4	MUC15	11	26584732	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	7628819	26584732	108421784	196	38801											
SLC1A2	6506	genome.wustl.edu	37	chr11	35314032	35314032	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccttgattgcaatgatctttCcacagatcaggcaggcgata	11	11	9	10	1	2	3	1	2	1	1	3	4	3	3	2	2	1	2	2	2	2	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:35314032C>G	ENST00000278379.3	-	7	1175	c.893G>C	c.(892-894)gGa>gCa	p.G298A	SLC1A2_ENST00000395750.1_Missense_Mutation_p.G289A|SLC1A2_ENST00000395753.1_Missense_Mutation_p.G289A|SLC1A2_ENST00000606205.1_Missense_Mutation_p.G298A	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	298					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)			AATGATCTTTCCACAGATCAG	0.478																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)												0													131	112	118					11																	35314032		2202	4298	6500	SO:0001583	missense	0			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.893G>C	11.37:g.35314032C>G	ENSP00000278379:p.Gly298Ala		B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.G298A	ENST00000278379.3	37	c.893	CCDS31459.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.302611|4.302611	0.81136|0.81136	.|.	.|.	ENSG00000110436|ENSG00000110436	ENST00000531628|ENST00000278379;ENST00000395750;ENST00000395753	.|T;T;T	.|0.57595	.|0.39;0.39;0.39	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63988|0.63988	0.2558|0.2558	L|L	0.48986|0.48986	1.54|1.54	0.80722|0.80722	D|D	1|1	.|P;P	.|0.45827	.|0.838;0.867	.|P;P	.|0.55303	.|0.557;0.773	T|T	0.59451|0.59451	-0.7452|-0.7452	5|10	.|0.36615	.|T	.|0.2	-13.4639|-13.4639	19.3676|19.3676	0.94469|0.94469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|298;298	.|B4DQE9;P43004	.|.;EAA2_HUMAN	Q|A	16|298;289;289	.|ENSP00000278379:G298A;ENSP00000379099:G289A;ENSP00000379102:G289A	.|ENSP00000278379:G298A	E|G	-|-	1|2	0|0	SLC1A2|SLC1A2	35270608|35270608	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.818000|7.818000	0.86416|0.86416	2.572000|2.572000	0.86782|0.86782	0.655000|0.655000	0.94253|0.94253	GAA|GGA	SLC1A2	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	ENSG00000110436		0.478	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	SLC1A2	HGNC	protein_coding	OTTHUMT00000258181.1	-	0	42	0	C	NM_004171		35314032	-1	tier1	-	no_errors	ENST00000278379	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	G	G	35314032	C	G	35314032	3	3	152	1	0	0	0	0	1	0	0	0	14477	855	30	5	851	5	SLC1A2	11	35314032	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	8729300	35314032	99692484	197	38802											
LRRC4C	57689	genome.wustl.edu	37	chr11	40136894	40136894	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcgagggggccatgtcttTtatccaccagctgagccaca	8	10	11	12	1	1	1	0	1	1	0	3	2	2	1	4	2	2	2	4	2	1	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:40136894T>G	ENST00000278198.2	-	2	2912	c.949A>C	c.(949-951)Aaa>Caa	p.K317Q	LRRC4C_ENST00000530763.1_Missense_Mutation_p.K317Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K317Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K317Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	317	LRRCT.				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)				GCCATGTCTTTTATCCACCAG	0.488																																																	0													115	100	105					11																	40136894		2203	4300	6503	SO:0001583	missense	0			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.949A>C	11.37:g.40136894T>G	ENSP00000278198:p.Lys317Gln		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.K317Q	ENST00000278198.2	37	c.949	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822360	0.32237	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.047663	0.85682	D	0.000000	T	0.09247	0.0228	L	0.52126	1.63	0.50313	D	0.999868	B	0.15473	0.013	B	0.11329	0.006	T	0.05386	-1.0888	10	0.49607	T	0.09	.	15.2607	0.73621	0.0:0.0:0.0:1.0	.	317	Q9HCJ2	LRC4C_HUMAN	Q	317	ENSP00000278198:K317Q;ENSP00000436976:K317Q;ENSP00000437132:K317Q;ENSP00000434761:K317Q	ENSP00000278198:K317Q	K	-	1	0	LRRC4C	40093470	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.089000	0.64492	2.206000	0.71126	0.533000	0.62120	AAA	LRRC4C	-	NULL	ENSG00000148948		0.488	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0	52	0	T	NM_020929		40136894	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	G	G	40136894	T	G	40136894	3	3	152	1	0	0	0	0	1	0	0	0	9043	1850	64	4	977	4	LRRC4C	11	40136894	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	4822862	40136894	94869622	198	38803											
OR4A5	81318	genome.wustl.edu	37	chr11	51411715	51411715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctttacccctcttttcCtgactgtaagttttaaggga	9	15	8	9	0	1	1	0	1	1	0	2	2	2	2	3	2	1	3	3	2	4	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:51411715C>A	ENST00000319760.6	-	1	733	c.681G>T	c.(679-681)caG>caT	p.Q227H		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	227						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)				CCCTCTTTTCCTGACTGTAAG	0.413																																																	0													63	63	63					11																	51411715		2201	4295	6496	SO:0001583	missense	0			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.681G>T	11.37:g.51411715C>A	ENSP00000367664:p.Gln227His		Q6IF84	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q227H	ENST00000319760.6	37	c.681	CCDS31497.1	11	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.768850	0.00645	.	.	ENSG00000221840	ENST00000319760	T	0.00137	8.68	1.93	-0.819	0.10829	GPCR, rhodopsin-like superfamily (1);	0.817698	0.10207	N	0.702501	T	0.00073	0.0002	N	0.05124	-0.11	0.09310	N	1	B	0.13145	0.007	B	0.24394	0.053	T	0.12372	-1.0550	10	0.54805	T	0.06	.	2.4132	0.04430	0.23:0.4025:0.0:0.3675	.	227	Q8NH83	OR4A5_HUMAN	H	227	ENSP00000367664:Q227H	ENSP00000367664:Q227H	Q	-	3	2	OR4A5	51268291	0.000000	0.05858	0.765000	0.31456	0.051000	0.14879	-3.100000	0.00604	-0.190000	0.10465	0.162000	0.16502	CAG	OR4A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221840		0.413	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1	-	0	66	0	C	NM_001005272		51411715	-1	tier1	-	no_errors	ENST00000319760	ensembl	human	known	74_37	missense	25.37	50	17	SNP	0.013	A	A	51411715	C	A	51411715	3	1	152	1	0	0	0	0	1	0	0	0	11082	680	24	3	270	3	OR4A5	11	51411715	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	11274821	51411715	83594801	199	38804											
OR4C15	81309	genome.wustl.edu	37	chr11	55322517	55322517	+	Silent	SNP	T	T	C	0	1	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	gagcttgcctgcactgatacTcacatctttggcctcatggt	7	13	9	12	0	3	1	2	1	1	0	3	2	3	1	2	2	4	2	2	2	1	3	rs145900465		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:55322517T>C	ENST00000314644.2	+	1	735	c.735T>C	c.(733-735)acT>acC	p.T245T		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCACTGATACTCACATCTTTG	0.438										HNSCC(20;0.049)																																							0													150	99	117					11																	55322517		2201	4296	6497	SO:0001819	synonymous_variant	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.735T>C	11.37:g.55322517T>C			Q6IFE2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T245	ENST00000314644.2	37	c.735	CCDS31501.1	11																																																																																			OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181939		0.438	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	-	0	54	0	T	NM_001001920		55322517	1	tier1	-	no_errors	ENST00000314644	ensembl	human	known	74_37	silent	16.67	55	11	SNP	0.005	C	C	55322517	T	C	55322517	2	2	152	1	0	0	0	0	0	0	0	1	11087	1538	54	4		4	OR4C15	11	55322517	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	3910802	55322517	79683999	200	38805											
OR4C16	219428	genome.wustl.edu	37	chr11	55340227	55340227	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggccatttgtgcagtgagTtatgtcatgctaatattctc	8	15	11	7	0	2	1	1	1	1	0	3	1	2	1	1	2	2	3	1	2	3	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:55340227T>G	ENST00000314634.3	+	1	624	c.624T>G	c.(622-624)agT>agG	p.S208R		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTGCAGTGAGTTATGTCATGC	0.433																																																	0													117	101	106					11																	55340227		2201	4296	6497	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.624T>G	11.37:g.55340227T>G	ENSP00000324913:p.Ser208Arg		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S208R	ENST00000314634.3	37	c.624	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847993	0.32699	.	.	ENSG00000181935	ENST00000314634	T	0.38240	1.15	4.98	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	H	0.94658	3.565	0.09310	N	1	D	0.55605	0.972	D	0.70227	0.968	T	0.57382	-0.7821	10	0.49607	T	0.09	.	7.8365	0.29374	0.0:0.1752:0.0:0.8248	.	208	Q8NGL9	OR4CG_HUMAN	R	208	ENSP00000324913:S208R	ENSP00000324913:S208R	S	+	3	2	OR4C16	55096803	0.000000	0.05858	0.439000	0.26833	0.231000	0.25187	-2.073000	0.01376	0.376000	0.24707	0.448000	0.29417	AGT	OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181935		0.433	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0	81	0	T	NM_001004701		55340227	1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	14.14	85	14	SNP	0.134	G	G	55340227	T	G	55340227	3	3	152	1	0	0	0	0	1	0	0	0	11088	1722	60	4	626	4	OR4C16	11	55340227	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	17710	55340227	79666289	201	38806											
OR4C11	219429	genome.wustl.edu	37	chr11	55371675	55371675	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacaaataaaatagaaagaAgtacatggggcttcctagtg	17	8	11	5	0	0	2	0	0	0	2	1	3	1	3	1	3	1	2	1	3	8	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:55371675A>C	ENST00000302231.4	-	1	199	c.175T>G	c.(175-177)Ttc>Gtc	p.F59V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATAGAAAGAAGTACATGGGG	0.383																																																	0													76	73	74					11																	55371675		2178	4000	6178	SO:0001583	missense	0			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.175T>G	11.37:g.55371675A>C	ENSP00000306651:p.Phe59Val		B9EIL4|Q8NGL8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F59V	ENST00000302231.4	37	c.175	CCDS31503.1	11	.	.	.	.	.	.	.	.	.	.	A	8.960	0.970412	0.18659	.	.	ENSG00000172188	ENST00000302231	T	0.01871	4.59	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	U	0.000095	T	0.06600	0.0169	M	0.93939	3.475	0.27310	N	0.957332	B	0.32350	0.366	B	0.25614	0.062	T	0.07673	-1.0760	10	0.87932	D	0	.	11.7877	0.52051	1.0:0.0:0.0:0.0	.	59	Q6IEV9	OR4CB_HUMAN	V	59	ENSP00000306651:F59V	ENSP00000306651:F59V	F	-	1	0	OR4C11	55128251	0.218000	0.23608	1.000000	0.80357	0.074000	0.17049	1.174000	0.31932	1.962000	0.57031	0.391000	0.25812	TTC	OR4C11	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172188		0.383	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C11	HGNC	protein_coding	OTTHUMT00000383268.1	-	0	154	0	A	NM_001004700		55371675	-1	tier1	-	no_errors	ENST00000302231	ensembl	human	known	74_37	missense	34.52	129	68	SNP	1.000	C	C	55371675	A	C	55371675	3	2	152	1	0	0	0	0	1	0	0	0	11084	72	3	4	759	4	OR4C11	11	55371675	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	31448	55371675	79634841	202	38807											
OR4P4	81300	genome.wustl.edu	37	chr11	55406092	55406092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttgacttactggcagaaAgaaagaccatttcctataat	14	12	8	7	0	0	4	0	1	0	3	1	4	1	4	2	2	1	2	2	2	5	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:55406092A>G	ENST00000314612.2	+	1	259	c.259A>G	c.(259-261)Aga>Gga	p.R87G		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ACTGGCAGAAAGAAAGACCAT	0.423																																																	0													134	115	122					11																	55406092		2179	4023	6202	SO:0001583	missense	0			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.259A>G	11.37:g.55406092A>G	ENSP00000324831:p.Arg87Gly			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R87G	ENST00000314612.2	37	c.259	CCDS31504.1	11	.	.	.	.	.	.	.	.	.	.	A	3.454	-0.111466	0.06881	.	.	ENSG00000181927	ENST00000314612	T	0.03035	4.07	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.325531	0.22424	N	0.060245	T	0.03220	0.0094	N	0.25245	0.725	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.36311	-0.9753	10	0.51188	T	0.08	-5.1314	8.5552	0.33476	0.9121:0.0:0.0879:0.0	.	87	Q8NGL7	OR4P4_HUMAN	G	87	ENSP00000324831:R87G	ENSP00000324831:R87G	R	+	1	2	OR4P4	55162668	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.079000	0.11357	1.932000	0.55993	0.509000	0.49947	AGA	OR4P4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181927		0.423	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4P4	HGNC	protein_coding	OTTHUMT00000383356.1	-	0	86	0	A	NM_001004124		55406092	1	tier1	-	no_errors	ENST00000314612	ensembl	human	known	74_37	missense	27.27	56	21	SNP	0.000	G	G	55406092	A	G	55406092	3	3	152	1	0	0	0	0	1	0	0	0	11119	64	3	4	261	4	OR4P4	11	55406092	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	34417	55406092	79600424	203	38808											
OR5D18	219438	genome.wustl.edu	37	chr11	55587529	55587529	+	Missense_Mutation	SNP	T	T	A	0	1	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	ttaacatgtcccagaaactcTgcgtgctgctggttgtggga	8	12	12	9	1	1	1	0	0	1	1	2	2	2	2	1	2	5	3	1	2	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:55587529T>A	ENST00000333976.4	+	1	444	c.424T>A	c.(424-426)Tgc>Agc	p.C142S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	142						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)				CCAGAAACTCTGCGTGCTGCT	0.468																																																	0													184	174	177					11																	55587529		2200	4296	6496	SO:0001583	missense	0			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.424T>A	11.37:g.55587529T>A	ENSP00000335025:p.Cys142Ser		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C142S	ENST00000333976.4	37	c.424	CCDS31510.1	11	.	.	.	.	.	.	.	.	.	.	.	13.52	2.260743	0.39995	.	.	ENSG00000186119	ENST00000333976	T	0.00231	8.49	4.84	1.12	0.20585	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000677	T	0.00384	0.0012	M	0.84948	2.725	0.09310	N	1	P	0.50066	0.931	P	0.55508	0.777	T	0.44375	-0.9332	10	0.72032	D	0.01	-30.8745	4.7274	0.12948	0.1399:0.1599:0.0:0.7003	.	142	Q8NGL1	OR5DI_HUMAN	S	142	ENSP00000335025:C142S	ENSP00000335025:C142S	C	+	1	0	OR5D18	55344105	0.002000	0.14202	0.000000	0.03702	0.469000	0.32828	0.738000	0.26158	0.018000	0.15052	0.457000	0.33378	TGC	OR5D18	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000186119		0.468	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	HGNC	protein_coding	OTTHUMT00000391515.1	-	0	64	0	T	NM_001001952		55587529	1	tier1	-	no_errors	ENST00000333976	ensembl	human	known	74_37	missense	40.00	51	34	SNP	0.005	A	A	55587529	T	A	55587529	3	1	152	1	0	0	0	0	1	0	0	0	11196	1580	55	5	426	5	OR5D18	11	55587529	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	181437	55587529	79418987	204	38809											
OR5D16	390144	genome.wustl.edu	37	chr11	55606285	55606285	+	Missense_Mutation	SNP	T	T	G	0	1	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	cattcactctcttgggcttcTcagattacctggaactgcaa	9	13	7	12	0	3	1	2	0	2	1	5	2	3	2	1	2	3	2	1	2	3	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:55606285T>G	ENST00000378396.1	+	1	58	c.58T>G	c.(58-60)Tca>Gca	p.S20A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	20						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)				CTTGGGCTTCTCAGATTACCT	0.413																																																	0													102	93	96					11																	55606285		2201	4296	6497	SO:0001583	missense	0			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.58T>G	11.37:g.55606285T>G	ENSP00000367649:p.Ser20Ala		Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S20A	ENST00000378396.1	37	c.58	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	13.88	2.369092	0.42003	.	.	ENSG00000205029	ENST00000378396	T	0.00424	7.45	4.15	1.48	0.22813	.	.	.	.	.	T	0.00637	0.0021	M	0.73319	2.225	0.23036	N	0.998395	B	0.31769	0.339	P	0.47015	0.534	T	0.33445	-0.9868	9	0.52906	T	0.07	-9.3149	6.1863	0.20500	0.1594:0.0:0.1656:0.675	.	20	Q8NGK9	OR5DG_HUMAN	A	20	ENSP00000367649:S20A	ENSP00000367649:S20A	S	+	1	0	OR5D16	55362861	0.000000	0.05858	0.734000	0.30879	0.895000	0.52256	-0.493000	0.06459	0.581000	0.29539	0.433000	0.28618	TCA	OR5D16	-	NULL	ENSG00000205029		0.413	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	-	0	97	0	T	NM_001005496		55606285	1	tier1	-	no_errors	ENST00000378396	ensembl	human	known	74_37	missense	42.24	67	49	SNP	0.998	G	G	55606285	T	G	55606285	3	3	152	1	0	0	0	0	1	0	0	0	11195	1551	54	4	60	4	OR5D16	11	55606285	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	18756	55606285	79400231	205	38810											
C11orf84	144097	genome.wustl.edu	37	chr11	63594542	63594542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ggagcaggtgacacctcagaCtggcccacagttctgtcaga	10	7	12	12	0	3	3	2	1	1	2	3	4	3	4	2	3	1	2	2	3	0	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:63594542C>G	ENST00000294244.4	+	6	1376	c.1077C>G	c.(1075-1077)gaC>gaG	p.D359E		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	359										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						ACACCTCAGACTGGCCCACAG	0.617																																																	0													65	55	58					11																	63594542		2201	4298	6499	SO:0001583	missense	0			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.1077C>G	11.37:g.63594542C>G	ENSP00000294244:p.Asp359Glu		Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	NULL	p.D359E	ENST00000294244.4	37	c.1077	CCDS31594.1	11	.	.	.	.	.	.	.	.	.	.	C	4.484	0.089670	0.08632	.	.	ENSG00000168005	ENST00000294244	T	0.48201	0.82	5.67	-0.045	0.13853	.	0.758973	0.11883	N	0.520342	T	0.33352	0.0860	L	0.43152	1.355	0.09310	N	0.999997	B	0.06786	0.001	B	0.06405	0.002	T	0.34477	-0.9827	10	0.87932	D	0	-3.8349	2.0695	0.03610	0.1423:0.4072:0.2773:0.1731	.	359	Q9BUA3	CK084_HUMAN	E	359	ENSP00000294244:D359E	ENSP00000294244:D359E	D	+	3	2	C11orf84	63351118	0.158000	0.22850	0.172000	0.22920	0.319000	0.28217	-0.243000	0.08915	-0.020000	0.14032	-0.257000	0.10917	GAC	C11orf84	-	NULL	ENSG00000168005		0.617	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf84	HGNC	protein_coding	OTTHUMT00000396084.1	-	0	107	0	C	NM_138471		63594542	1	tier1	-	no_errors	ENST00000294244	ensembl	human	known	74_37	missense	14.88	143	25	SNP	0.142	G	G	63594542	C	G	63594542	3	3	152	1	0	0	0	0	1	0	0	0	1672	564	20	5	1099	5	C11orf84	11	63594542	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	7988257	63594542	71411974	206	38811											
ANKRD13D	338692	genome.wustl.edu	37	chr11	67067565	67067565	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtcacggaacattggccgCcccatcgagatgtccagcaa	11	6	11	13	3	1	1	1	0	0	1	3	4	2	2	4	2	2	1	4	2	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:67067565C>A	ENST00000447274.2	+	10	1958	c.783C>A	c.(781-783)cgC>cgA	p.R261R	ANKRD13D_ENST00000511455.2_Silent_p.R348R|ANKRD13D_ENST00000514166.1_Silent_p.R261R|ANKRD13D_ENST00000308440.6_Silent_p.R261R|ANKRD13D_ENST00000515828.1_5'Flank			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	261						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)			ACATTGGCCGCCCCATCGAGA	0.632																																																	0													122	114	117					11																	67067565		2200	4295	6495	SO:0001819	synonymous_variant	0			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.783C>A	11.37:g.67067565C>A			D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Silent	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.R348	ENST00000447274.2	37	c.1044		11																																																																																			ANKRD13D	-	pfam_ANKRD13	ENSG00000172932		0.632	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2	-	0	64	0	C	NM_207354		67067565	1	tier1	-	no_errors	ENST00000511455	ensembl	human	known	74_37	silent	8.06	57	5	SNP	1.000	A	A	67067565	C	A	67067565	2	1	152	1	0	0	0	0	0	0	0	1	644	726	26	3		3	ANKRD13D	11	67067565	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	3473023	67067565	67938951	207	38812											
MYO7A	4647	genome.wustl.edu	37	chr11	76874015	76874015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcaaccattttgcaggcatCgtctactatgagacccaagg	12	10	8	11	1	2	1	1	1	1	1	3	2	2	1	2	2	3	2	2	2	4	4	rs373108550		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:76874015C>T	ENST00000409709.3	+	14	1943	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	MYO7A_ENST00000409619.2_Silent_p.I546I|MYO7A_ENST00000458637.2_Silent_p.I557I|MYO7A_ENST00000409893.1_Silent_p.I557I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	557	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGCAGGCATCGTCTACTATG	0.557																																																	0								C	,,	0,4072		0,0,2036	195	208	204		1671,1671,1671	-9.4	0	11		204	1,8363		0,1,4181	no	coding-synonymous,coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127179.2,NM_001127180.1	,,	0,1,6217	TT,TC,CC		0.012,0.0,0.0080	,,	557/2216,557/1179,557/2176	76874015	1,12435	2036	4182	6218	SO:0001819	synonymous_variant	0			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.1671C>T	11.37:g.76874015C>T			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.I557	ENST00000409709.3	37	c.1671	CCDS53683.1	11																																																																																			MYO7A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000137474		0.557	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	-	0	97	0	C	NM_000260		76874015	1	tier1	-	no_errors	ENST00000409709	ensembl	human	known	74_37	silent	41.76	53	38	SNP	0.366	T	T	76874015	C	T	76874015	2	4	152	1	0	0	0	0	0	0	0	1	10120	874	31	1		1	MYO7A	11	76874015	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	9806450	76874015	58132501	208	38813											
USP35	57558	genome.wustl.edu	37	chr11	77920009	77920009	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagtacctgctggatcGgtaagggggccagggctacg	8	8	16	9	2	1	1	0	1	1	0	2	2	1	2	2	5	3	4	2	5	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:77920009G>A	ENST00000529308.1	+	9	1853	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	USP35_ENST00000526425.1_Splice_Site_p.R262Q|USP35_ENST00000441408.2_Splice_Site_p.R117Q|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Splice_Site_p.R99Q	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	531	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTGCTGGATCGGTAAGGGGGC	0.602																																																	0													44	46	45					11																	77920009		2054	4201	6255	SO:0001630	splice_region_variant	0			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1592+1G>A	11.37:g.77920009G>A				Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.R531Q	ENST00000529308.1	37	c.1592	CCDS41693.1	11	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927524	0.73327	.	.	ENSG00000118369	ENST00000530267;ENST00000528910;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	4.36	4.36	0.52297	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.46758	D	0.000271	T	0.45836	0.1362	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.49113	-0.8973	10	0.66056	D	0.02	-16.414	17.0788	0.86593	0.0:0.0:1.0:0.0	.	531;117	Q9P2H5;E7EWV7	UBP35_HUMAN;.	Q	99;287;531;117;262	ENSP00000435468:R99Q;ENSP00000436001:R287Q;ENSP00000431876:R531Q;ENSP00000400825:R117Q;ENSP00000434942:R262Q	ENSP00000400825:R117Q	R	+	2	0	USP35	77597657	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.263000	0.95617	2.266000	0.75297	0.591000	0.81541	CGG	USP35	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000118369		0.602	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	-	0	31	0	G	XM_290527	Missense_Mutation	77920009	1	tier1	-	no_errors	ENST00000529308	ensembl	human	known	74_37	missense	19.44	29	7	SNP	1.000	A	A	77920009	G	A	77920009	5	1	152	1	0	0	0	0	0	0	1	0	17115	1130	39	1	1622	1	USP35	11	77920009	Splice_Site	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	1045994	77920009	57086507	209	38814											
DLG2	1740	genome.wustl.edu	37	chr11	83544658	83544658	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attaaagaaacatactcaccGataggatctggtctcctctc	13	11	6	11	1	4	1	1	0	3	1	6	3	4	2	2	2	2	0	2	2	5	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:83544658G>A	ENST00000532653.1	-	12	1708	c.1406C>T	c.(1405-1407)tCg>tTg	p.S469L	DLG2_ENST00000376104.2_Splice_Site_p.S574L|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000543673.1_Splice_Site_p.S574L|DLG2_ENST00000398309.2_Splice_Site_p.S469L|DLG2_ENST00000280241.8_Splice_Site_p.S508L|DLG2_ENST00000524982.1_Splice_Site_p.S469L|DLG2_ENST00000531015.1_Splice_Site_p.S436L|DLG2_ENST00000418306.2_Splice_Site_p.S366L|DLG2_ENST00000398301.2_Splice_Site_p.S508L|DLG2_ENST00000330014.6_Splice_Site_p.S408L|DLG2_ENST00000537455.1_Splice_Site_p.S223L			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	211	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)				CATACTCACCGATAGGATCTG	0.428																																																	0													102	109	107					11																	83544658		2106	4248	6354	SO:0001630	splice_region_variant	0			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.1407+1C>T	11.37:g.83544658G>A			B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.S574L	ENST00000532653.1	37	c.1721		11	.	.	.	.	.	.	.	.	.	.	G	32	5.117763	0.94385	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000014	T	0.67353	0.2884	M	0.65320	2	0.80722	D	1	D;D;D;P;D;D;D;D	0.89917	1.0;1.0;1.0;0.954;1.0;1.0;0.999;1.0	D;D;D;P;D;D;D;D	0.91635	0.999;0.984;0.979;0.701;0.995;0.996;0.952;0.999	T	0.66204	-0.5982	9	.	.	.	.	18.8476	0.92213	0.0:0.0:1.0:0.0	.	436;469;469;408;508;574;469;366	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	L	469;574;366;574;508;408;223;469;469;574;436;508	ENSP00000381355:S469L;ENSP00000365272:S574L;ENSP00000402275:S366L;ENSP00000441994:S574L;ENSP00000280241:S508L;ENSP00000381353:S408L;ENSP00000443248:S223L;ENSP00000432894:S469L;ENSP00000435849:S469L;ENSP00000433848:S436L;ENSP00000381346:S508L	.	S	-	2	0	DLG2	83222306	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	9.444000	0.97578	2.462000	0.83206	0.650000	0.86243	TCG	DLG2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000150672		0.428	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0	48	0	G	NM_001364	Missense_Mutation	83544658	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	A	A	83544658	G	A	83544658	5	1	152	1	0	0	0	0	0	0	1	0	4569	1072	37	1	1304	1	DLG2	11	83544658	Splice_Site	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	5624649	83544658	51461858	210	38815											
GRM5	2915	genome.wustl.edu	37	chr11	88337964	88337964	+	Missense_Mutation	SNP	T	T	C	0	1	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	aattggttttcatcagggacTccaaaagtttccgtccatca	11	13	7	10	1	3	0	3	0	0	0	6	1	6	1	3	2	0	2	3	2	3	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:88337964T>C	ENST00000305447.4	-	4	1465	c.1316A>G	c.(1315-1317)gAg>gGg	p.E439G	GRM5_ENST00000418177.2_Missense_Mutation_p.E439G|GRM5_ENST00000455756.2_Missense_Mutation_p.E439G|GRM5_ENST00000393297.1_Missense_Mutation_p.E439G|GRM5_ENST00000305432.5_Missense_Mutation_p.E439G	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	439					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)	CATCAGGGACTCCAAAAGTTT	0.478																																																	0													71	69	69					11																	88337964		2201	4299	6500	SO:0001583	missense	0			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.1316A>G	11.37:g.88337964T>C	ENSP00000306138:p.Glu439Gly		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.E439G	ENST00000305447.4	37	c.1316	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	T	23.0	4.363269	0.82353	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.176771	0.64402	D	0.000012	T	0.74306	0.3699	L	0.33293	1	0.58432	D	0.99999	B;B	0.33549	0.417;0.117	B;B	0.28011	0.085;0.044	T	0.72225	-0.4355	9	.	.	.	.	16.0872	0.81065	0.0:0.0:0.0:1.0	.	439;439	P41594-2;P41594	.;GRM5_HUMAN	G	439	ENSP00000402912:E439G;ENSP00000405690:E439G;ENSP00000305905:E439G;ENSP00000306138:E439G;ENSP00000376975:E439G	.	E	-	2	0	GRM5	87977612	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	8.040000	0.89188	2.207000	0.71202	0.366000	0.22137	GAG	GRM5	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000168959		0.478	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	-	0	94	0	T	NM_000842		88337964	-1	tier1	-	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	10.83	107	13	SNP	0.999	C	C	88337964	T	C	88337964	3	2	152	1	0	0	0	0	1	0	0	0	6827	1551	54	4	2346	4	GRM5	11	88337964	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	4793306	88337964	46668552	211	38816											
FAT3	120114	genome.wustl.edu	37	chr11	92534123	92534123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcctctgtttcagtggcCgacctcctggaaatcgatcc	7	10	11	13	2	2	0	1	0	1	0	5	4	4	1	5	3	0	1	5	3	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:92534123C>T	ENST00000298047.6	+	9	7961	c.7944C>T	c.(7942-7944)gcC>gcT	p.A2648A	FAT3_ENST00000409404.2_Silent_p.A2648A|FAT3_ENST00000525166.1_Silent_p.A2498A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2648	Cadherin 24. {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)				TTTCAGTGGCCGACCTCCTGG	0.463										TCGA Ovarian(4;0.039)																																							0													36	34	35					11																	92534123		1887	4103	5990	SO:0001819	synonymous_variant	0			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.7944C>T	11.37:g.92534123C>T			B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A2648	ENST00000298047.6	37	c.7944		11																																																																																			FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.463	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	92	0	C	NM_001008781		92534123	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	25.00	89	30	SNP	0.976	T	T	92534123	C	T	92534123	2	4	152	1	0	0	0	0	0	0	0	1	5713	639	23	1		1	FAT3	11	92534123	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	4196159	92534123	42472393	212	38817											
GPR83	10888	genome.wustl.edu	37	chr11	94113933	94113933	+	Silent	SNP	G	G	A	0	0	1	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	aggcagagggagcgcacaatGtcctcactgggggcaggaag	11	4	17	9	1	1	1	1	0	0	1	2	3	2	3	1	5	1	3	1	5	2	0	rs61734489	byFrequency	TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:94113933G>A	ENST00000243673.2	-	4	825	c.654C>T	c.(652-654)gaC>gaT	p.D218D	GPR83_ENST00000539203.2_Silent_p.D176D	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	218					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)				AGCGCACAATGTCCTCACTGG	0.572																																																	0													55	55	55					11																	94113933		2201	4298	6499	SO:0001819	synonymous_variant	0			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.654C>T	11.37:g.94113933G>A			B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.D218	ENST00000243673.2	37	c.654	CCDS8297.1	11																																																																																			GPR83	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000123901		0.572	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1	-	0	29	0	G	NM_016540		94113933	-1	tier1	-	no_errors	ENST00000243673	ensembl	human	known	74_37	silent	26.47	50	18	SNP	0.002	A	A	94113933	G	A	94113933	2	1	152	1	0	0	0	0	0	0	0	1	6739	1368	48	3		3	GPR83	11	94113933	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	1579810	94113933	40892583	213	38818											
MMP20	9313	genome.wustl.edu	37	chr11	102479749	102479749	+	Missense_Mutation	SNP	T	T	C	0	1	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	gtacttataagttgggtacaTcagtgctgatgggtctgtgg	8	14	14	5	0	2	1	1	1	1	0	2	1	2	1	0	3	3	4	0	3	4	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:102479749T>C	ENST00000260228.2	-	5	742	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	RP11-817J15.2_ENST00000544115.1_RNA|MMP20_ENST00000544938.1_5'Flank|RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	251					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GTTGGGTACATCAGTGCTGAT	0.438																																																	0													132	120	124					11																	102479749		2203	4299	6502	SO:0001583	missense	0			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.730A>G	11.37:g.102479749T>C	ENSP00000260228:p.Met244Val		D3DUA8|Q9H3Q0	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.M244V	ENST00000260228.2	37	c.730	CCDS8318.1	11	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450213	0.84101	.	.	ENSG00000137674	ENST00000260228	D	0.81739	-1.53	5.38	5.38	0.77491	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93782	0.8012	H	0.98333	4.205	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96035	0.9020	10	0.87932	D	0	.	15.2365	0.73436	0.0:0.0:0.0:1.0	.	244	O60882	MMP20_HUMAN	V	244	ENSP00000260228:M244V	ENSP00000260228:M244V	M	-	1	0	MMP20	101984959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.585000	0.82584	2.254000	0.74563	0.533000	0.62120	ATG	MMP20	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A	ENSG00000137674		0.438	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP20	HGNC	protein_coding	OTTHUMT00000398012.1	-	0	75	0	T			102479749	-1	tier1	-	no_errors	ENST00000260228	ensembl	human	known	74_37	missense	29.46	79	33	SNP	1.000	C	C	102479749	T	C	102479749	3	2	152	1	0	0	0	0	1	0	0	0	9697	1435	50	4	745	4	MMP20	11	102479749	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	8365816	102479749	32526767	214	38819											
GRIA4	2893	genome.wustl.edu	37	chr11	105623793	105623793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacctcattctgcagcGccttacatatctccctcatc	7	13	4	17	1	4	1	2	1	2	0	6	1	4	1	4	0	3	1	4	0	2	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:105623793G>A	ENST00000530497.1	+	3	334	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	GRIA4_ENST00000393125.2_Missense_Mutation_p.A112T|GRIA4_ENST00000525187.1_Missense_Mutation_p.A112T|GRIA4_ENST00000393127.2_Missense_Mutation_p.A112T|GRIA4_ENST00000282499.5_Missense_Mutation_p.A112T|GRIA4_ENST00000428631.2_Missense_Mutation_p.A112T			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	112					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)		ATTCTGCAGCGCCTTACATAT	0.463																																																	0													166	138	147					11																	105623793		2202	4299	6501	SO:0001583	missense	0			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.334G>A	11.37:g.105623793G>A	ENSP00000435775:p.Ala112Thr		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A112T	ENST00000530497.1	37	c.334	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700068	0.48307	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.51	5.51	0.81932	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000004	D	0.84433	0.5471	N	0.13043	0.29	0.80722	D	1	D;D;D;D	0.89917	0.973;1.0;1.0;0.984	B;D;D;P	0.91635	0.435;0.998;0.999;0.65	D	0.83905	0.0292	10	0.30854	T	0.27	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	112;112;142;112	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	T	112	ENSP00000376833:A112T;ENSP00000282499:A112T;ENSP00000376835:A112T;ENSP00000415551:A112T;ENSP00000432443:A112T;ENSP00000435775:A112T;ENSP00000432180:A112T	ENSP00000282499:A112T	A	+	1	0	GRIA4	105129003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.600000	0.87896	0.655000	0.94253	GCC	GRIA4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152578		0.463	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	-	0	106	0	G			105623793	1	tier1	-	no_errors	ENST00000282499	ensembl	human	known	74_37	missense	53.28	57	65	SNP	1.000	A	A	105623793	G	A	105623793	3	1	152	1	0	0	0	0	1	0	0	0	6797	1087	38	1	344	1	GRIA4	11	105623793	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	3144044	105623793	29382723	215	38820											
ARHGAP20	57569	genome.wustl.edu	37	chr11	110450894	110450894	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgggcaaaggtttaatcTtgggggtaaaaccttctcag	10	12	11	8	0	2	0	1	0	2	0	3	0	2	0	2	4	1	3	2	4	4	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:110450894T>G	ENST00000260283.4	-	16	3060	c.2776A>C	c.(2776-2778)Aga>Cga	p.R926R	ARHGAP20_ENST00000527598.1_Silent_p.R890R|ARHGAP20_ENST00000529591.1_Silent_p.R469R|ARHGAP20_ENST00000524756.1_Silent_p.R903R|ARHGAP20_ENST00000528829.1_Silent_p.R890R|ARHGAP20_ENST00000357139.3_Silent_p.R900R|ARHGAP20_ENST00000533353.1_Silent_p.R900R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	926					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(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AGGTTTAATCTTGGGGGTAAA	0.488																																																	0													138	135	136					11																	110450894		2201	4298	6499	SO:0001819	synonymous_variant	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2776A>C	11.37:g.110450894T>G			A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.R926	ENST00000260283.4	37	c.2776	CCDS31673.1	11																																																																																			ARHGAP20	-	NULL	ENSG00000137727		0.488	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	-	0	159	0	T	NM_020809		110450894	-1	tier1	-	no_errors	ENST00000260283	ensembl	human	known	74_37	silent	12.08	181	25	SNP	0.001	G	G	110450894	T	G	110450894	2	3	152	1	0	0	0	0	0	0	0	1	870	1617	56	4		4	ARHGAP20	11	110450894	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	4827101	110450894	24555622	216	38821											
ARCN1	372	genome.wustl.edu	37	chr11	118454686	118454686	+	Missense_Mutation	SNP	A	A	G	1	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	ctgccatgatcacagagaccAtcattgaaactgataaacca	16	8	6	11	0	2	4	2	3	0	1	2	5	2	4	3	0	3	0	3	0	3	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:118454686A>G	ENST00000264028.4	+	4	705	c.610A>G	c.(610-612)Atc>Gtc	p.I204V	ARCN1_ENST00000392859.3_Missense_Mutation_p.I116V|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.I245V	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	204					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)		CACAGAGACCATCATTGAAAC	0.468																																																	0													97	91	93					11																	118454686		2200	4295	6495	SO:0001583	missense	0			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.610A>G	11.37:g.118454686A>G	ENSP00000264028:p.Ile204Val		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.I204V	ENST00000264028.4	37	c.610	CCDS8400.1	11	.	.	.	.	.	.	.	.	.	.	A	9.594	1.127026	0.20959	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.52526	0.66;0.66;0.66	5.89	4.75	0.60458	.	0.048661	0.85682	D	0.000000	T	0.35451	0.0932	L	0.38531	1.155	0.58432	D	0.999993	B;B;B	0.15141	0.003;0.012;0.003	B;B;B	0.12837	0.003;0.008;0.002	T	0.13124	-1.0521	10	0.15952	T	0.53	-12.8072	11.9761	0.53091	0.9304:0.0:0.0696:0.0	.	116;245;204	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	V	116;245;204	ENSP00000376599:I116V;ENSP00000352385:I245V;ENSP00000264028:I204V	ENSP00000264028:I204V	I	+	1	0	ARCN1	117959896	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.414000	0.59802	2.257000	0.74773	0.460000	0.39030	ATC	ARCN1	-	NULL	ENSG00000095139		0.468	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1	-	0	45	0	A			118454686	1	tier1	-	no_errors	ENST00000264028	ensembl	human	known	74_37	missense	24.64	52	17	SNP	1.000	G	G	118454686	A	G	118454686	3	3	152	1	0	0	0	0	1	0	0	0	842	217	8	4	624	4	ARCN1	11	118454686	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	8003792	118454686	16551830	217	38822											
ETS1	2113	genome.wustl.edu	37	chr11	128356014	128356014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggataggctgggttgactCcattaacttgatatggtttc	8	15	11	7	0	0	2	0	2	0	0	2	3	1	3	1	4	1	3	1	4	3	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr11:128356014C>G	ENST00000319397.6	-	4	740	c.431G>C	c.(430-432)gGa>gCa	p.G144A	ETS1_ENST00000526145.2_Missense_Mutation_p.G144A|ETS1_ENST00000345075.4_Missense_Mutation_p.G144A|ETS1_ENST00000392668.4_Missense_Mutation_p.G188A|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000531611.1_Missense_Mutation_p.G144A	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	144	Activation domain; required for transcription activation.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TGGGTTGACTCCATTAACTTG	0.398																																																	0													159	146	151					11																	128356014		2201	4297	6498	SO:0001583	missense	0				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.431G>C	11.37:g.128356014C>G	ENSP00000324578:p.Gly144Ala		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom	p.G188A	ENST00000319397.6	37	c.563	CCDS8475.1	11	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960204	0.53400	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.44881	3.12;2.77;0.91;2.78;3.12	5.84	5.84	0.93424	.	0.229124	0.44902	D	0.000407	T	0.28995	0.0720	N	0.22421	0.69	0.80722	D	1	B;B;B	0.29162	0.088;0.235;0.028	B;B;B	0.29077	0.046;0.098;0.016	T	0.08743	-1.0707	10	0.16420	T	0.52	.	13.3995	0.60874	0.0:0.9282:0.0:0.0718	.	144;144;188	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	A	144;188;144;144;144	ENSP00000340485:G144A;ENSP00000376436:G188A;ENSP00000435666:G144A;ENSP00000324578:G144A;ENSP00000433500:G144A	ENSP00000324578:G144A	G	-	2	0	ETS1	127861224	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.768000	0.68858	2.776000	0.95493	0.650000	0.86243	GGA	ETS1	-	pirsf_Transform_prot_C-ets	ENSG00000134954		0.398	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS1	HGNC	protein_coding	OTTHUMT00000386269.2	-	0	66	0	C	NM_005238		128356014	-1	tier1	-	no_errors	ENST00000392668	ensembl	human	known	74_37	missense	10.31	87	10	SNP	1.000	G	G	128356014	C	G	128356014	3	3	152	1	0	0	0	0	1	0	0	0	5291	855	30	5	914	5	ETS1	11	128356014	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	9901328	128356014	6650502	218	38823											
CACNA1C	775	genome.wustl.edu	37	chr12	2659137	2659137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccagtgagaccgagtcCgtcaacaccgaaaacgtggc	12	4	10	15	4	1	1	1	1	0	1	2	4	2	1	5	1	2	0	5	1	3	0	rs368065584		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:2659137C>T	ENST00000347598.4	+	10	1419	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	CACNA1C_ENST00000399655.1_Silent_p.S473S|CACNA1C_ENST00000399641.1_Silent_p.S473S|CACNA1C_ENST00000399606.1_Silent_p.S473S|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399621.1_Silent_p.S473S|CACNA1C_ENST00000399617.1_Silent_p.S473S|CACNA1C_ENST00000399644.1_Silent_p.S473S|CACNA1C_ENST00000399595.1_Silent_p.S473S|CACNA1C_ENST00000399649.1_Silent_p.S473S|CACNA1C_ENST00000399597.1_Silent_p.S473S|CACNA1C_ENST00000399603.1_Silent_p.S473S|CACNA1C_ENST00000399591.1_Silent_p.S473S|CACNA1C_ENST00000399601.1_Silent_p.S473S|CACNA1C_ENST00000402845.3_Silent_p.S473S|CACNA1C_ENST00000327702.7_Silent_p.S473S|CACNA1C_ENST00000480911.1_Silent_p.S473S|CACNA1C_ENST00000406454.3_Silent_p.S473S|CACNA1C_ENST00000399634.1_Silent_p.S473S|CACNA1C_ENST00000399638.1_Silent_p.S473S|CACNA1C_ENST00000335762.5_Silent_p.S498S|CACNA1C_ENST00000399629.1_Silent_p.S473S|CACNA1C_ENST00000344100.3_Silent_p.S473S|CACNA1C_ENST00000399637.1_Silent_p.S473S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	473					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)	AGACCGAGTCCGTCAACACCG	0.592																																																	0								C	,,,,,,,,,,,,,,,,,,,,,,	0,4214		0,0,2107	54	60	58		1419,1419,1419,1419,1419,1419,1419,1419,1419,1419,1419,1419,1419,1419,1419,1419,1419,1410,1419,1419,1419,1419,1419	-6.1	1	12		58	6,8450		0,6,4222	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,6,6329	TT,TC,CC		0.071,0.0,0.0474	,,,,,,,,,,,,,,,,,,,,,,	473/2139,473/2187,473/2180,473/2174,473/2167,473/2159,473/2158,473/2158,473/2158,473/2156,473/2147,473/2147,473/2145,473/2139,473/2139,473/2139,473/2139,470/2136,473/2128,473/2139,473/2174,473/2199,473/2222	2659137	6,12664	2107	4228	6335	SO:0001819	synonymous_variant	0			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.1419C>T	12.37:g.2659137C>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	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.S473	ENST00000347598.4	37	c.1419	CCDS44788.1	12																																																																																			CACNA1C	-	NULL	ENSG00000151067		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0	33	0	C	NM_000719		2659137	1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	silent	20.37	43	11	SNP	0.359	T	T	2659137	C	T	2659137	2	4	152	1	0	0	0	0	0	0	0	1	2547	639	23	1		1	CACNA1C	12	2659137	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09		2659137	131192758	219	38824											
SCNN1A	6337	genome.wustl.edu	37	chr12	6457893	6457893	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccaggcacgacctacCgtgacagagggagactcaga	12	5	11	13	2	1	4	1	1	0	3	3	6	3	4	4	2	1	1	4	2	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:6457893C>A	ENST00000228916.2	-	12	1727	c.1629G>T	c.(1627-1629)acG>acT	p.T543T	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000540037.1_Splice_Site_p.T243T|SCNN1A_ENST00000358945.3_Splice_Site_p.T565T|SCNN1A_ENST00000360168.3_Splice_Site_p.T602T|SCNN1A_ENST00000543768.1_Splice_Site_p.T566T	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	543					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)	CACGACCTACCGTGACAGAGG	0.542																																																	0													128	115	119					12																	6457893		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1629+1G>T	12.37:g.6457893C>A			A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.T565	ENST00000228916.2	37	c.1695	CCDS8543.1	12																																																																																			SCNN1A	-	pfam_Na+channel_ASC,prints_Na+channel_ASC	ENSG00000111319		0.542	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1		0	52	0	C		Silent	6457893	-1			no_errors	ENST00000358945	ensembl	human	known	74_37	silent	6.78	54	4	SNP	1.000	A	A	6457893	C	A	6457893	5	1	152	1	0	0	0	0	0	0	1	0	13972	666	23	2	388	2	SCNN1A	12	6457893	Splice_Site	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	3798756	6457893	127394002	220	38825											
ACRBP	57121	genome.wustl.edu	37	chr12	6748125	6748125	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggggtgctcaccttccGattgcggtttctcatcagac	6	11	12	12	2	3	1	3	0	1	1	5	2	4	1	2	4	2	3	2	4	0	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:6748125G>T	ENST00000329858.4	-	0	0				ACRBP_ENST00000229243.2_Silent_p.R502R|ACRBP_ENST00000542357.1_5'UTR|LPAR5_ENST00000540335.1_5'Flank|ACRBP_ENST00000414226.2_Silent_p.R469R	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5							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						CTCACCTTCCGATTGCGGTTT	0.537																																					NSCLC(74;891 2312 37538)												0													122	111	115					12																	6748125		2203	4300	6503	SO:0001631	upstream_gene_variant	0			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			12.37:g.6748125G>T	Exception_encountered			Silent	SNP	pfam_Proacrosin-bd	p.R502	ENST00000329858.4	37	c.1504	CCDS8553.1	12																																																																																			ACRBP	-	NULL	ENSG00000111644		0.537	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	HGNC	protein_coding	OTTHUMT00000400699.1	-	0	65	0	G	NM_020400		6748125	-1	tier1	-	no_errors	ENST00000229243	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.002	T	T	6748125	G	T	6748125	1	4	152	0	1	0	0	0	0	0	0	0	170	1057	37	2		2	ACRBP	12	6748125	5'Flank	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	290232	6748125	127103770	221	38826											
GPR162	27239	genome.wustl.edu	37	chr12	6933275	6933275	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctgtgcccctcaccacctttGccgtggtgcagctgcgtcgt	3	11	11	16	3	1	0	1	0	0	0	2	0	1	0	5	1	5	2	5	1	0	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:6933275G>T	ENST00000311268.3	+	2	998	c.211G>T	c.(211-213)Gcc>Tcc	p.A71S	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	71						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						CACCACCTTTGCCGTGGTGCA	0.597																																																	0													92	72	79					12																	6933275		2203	4300	6503	SO:0001583	missense	0			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.211G>T	12.37:g.6933275G>T	ENSP00000311528:p.Ala71Ser		Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162,prints_GCR_153/162	p.A71S	ENST00000311268.3	37	c.211	CCDS8563.1	12	.	.	.	.	.	.	.	.	.	.	G	6.394	0.440739	0.12104	.	.	ENSG00000250510	ENST00000311268	T	0.38401	1.14	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15825	0.0381	N	0.02916	-0.46	0.80722	D	1	P;P	0.36909	0.573;0.573	B;B	0.33568	0.166;0.117	T	0.11792	-1.0573	9	0.33141	T	0.24	.	12.056	0.53536	0.0:0.0:0.8277:0.1723	.	71;71	B7Z3U3;Q16538	.;GP162_HUMAN	S	71	ENSP00000311528:A71S	ENSP00000311528:A71S	A	+	1	0	GPR162	6803536	1.000000	0.71417	0.394000	0.26270	0.089000	0.18198	5.678000	0.68153	2.226000	0.72624	0.491000	0.48974	GCC	GPR162	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GCR_153/162	ENSG00000250510		0.597	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR162	HGNC	protein_coding	OTTHUMT00000399478.1	-	0	38	0	G	NM_019858		6933275	1	tier1	-	no_errors	ENST00000311268	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.940	T	T	6933275	G	T	6933275	3	4	152	1	0	0	0	0	1	0	0	0	6692	1319	46	3	232	3	GPR162	12	6933275	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	185150	6933275	126918620	222	38827											
CLEC1B	51266	genome.wustl.edu	37	chr12	10149567	10149567	+	Missense_Mutation	SNP	A	A	G	1	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	gctatctccataatatctccAgtttgtgtcacaggggctgc	8	13	9	11	0	3	0	1	0	2	0	5	0	3	0	2	2	1	3	2	2	3	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:10149567A>G	ENST00000298527.6	-	4	495	c.316T>C	c.(316-318)Tgg>Cgg	p.W106R	CLEC1B_ENST00000348658.4_Missense_Mutation_p.W73R|CLEC1B_ENST00000428126.2_Missense_Mutation_p.W73R	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	106					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						TAATATCTCCAGTTTGTGTCA	0.413																																																	0													152	136	141					12																	10149567		1877	4118	5995	SO:0001583	missense	0			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.316T>C	12.37:g.10149567A>G	ENSP00000298527:p.Trp106Arg		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.W106R	ENST00000298527.6	37	c.316	CCDS41752.1	12	.	.	.	.	.	.	.	.	.	.	A	15.72	2.918298	0.52546	.	.	ENSG00000165682	ENST00000398937;ENST00000428126;ENST00000298527;ENST00000348658;ENST00000398939	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.05	4.05	0.47172	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.120124	0.38837	N	0.001545	T	0.57961	0.2089	M	0.88979	2.995	0.34869	D	0.743435	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.72883	-0.4157	10	0.87932	D	0	.	9.2941	0.37804	1.0:0.0:0.0:0.0	.	73;106	Q9P126-2;Q9P126	.;CLC1B_HUMAN	R	13;73;106;73;10	ENSP00000381910:W13R;ENSP00000406338:W73R;ENSP00000298527:W106R;ENSP00000327169:W73R	ENSP00000298527:W106R	W	-	1	0	CLEC1B	10040834	1.000000	0.71417	0.990000	0.47175	0.847000	0.48162	4.135000	0.57997	1.681000	0.50988	0.402000	0.26972	TGG	CLEC1B	-	superfamily_C-type_lectin_fold,smart_C-type_lectin	ENSG00000165682		0.413	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC1B	HGNC	protein_coding	OTTHUMT00000399922.1	-	0	101	0	A	NM_016509		10149567	-1	tier1	-	no_errors	ENST00000298527	ensembl	human	known	74_37	missense	34.86	71	38	SNP	0.998	G	G	10149567	A	G	10149567	3	3	152	1	0	0	0	0	1	0	0	0	3513	188	7	4	385	4	CLEC1B	12	10149567	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	3216292	10149567	123702328	223	38828											
STYK1	55359	genome.wustl.edu	37	chr12	10772778	10772778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gttgtagaagaggctctccaCtctgatgccggccacagctg	8	9	12	12	1	2	3	0	1	2	2	3	3	2	3	3	2	2	4	3	2	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:10772778C>T	ENST00000075503.3	-	11	1754	c.1234G>A	c.(1234-1236)Gtg>Atg	p.V412M		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	412						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGGCTCTCCACTCTGATGCCG	0.463										HNSCC(73;0.22)																																							0													159	153	155					12																	10772778		2203	4300	6503	SO:0001583	missense	0			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1234G>A	12.37:g.10772778C>T	ENSP00000075503:p.Val412Met		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V412M	ENST00000075503.3	37	c.1234	CCDS8629.1	12	.	.	.	.	.	.	.	.	.	.	C	7.433	0.639055	0.14386	.	.	ENSG00000060140	ENST00000075503	T	0.78707	-1.2	4.96	-0.123	0.13527	.	1.573530	0.03609	N	0.234618	T	0.63319	0.2501	L	0.34521	1.04	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.29058	-1.0024	10	0.22706	T	0.39	-0.2746	1.2194	0.01921	0.1449:0.3802:0.1415:0.3334	.	412	Q6J9G0	STYK1_HUMAN	M	412	ENSP00000075503:V412M	ENSP00000075503:V412M	V	-	1	0	STYK1	10664045	0.000000	0.05858	0.007000	0.13788	0.723000	0.41478	-0.181000	0.09740	-0.354000	0.08212	0.563000	0.77884	GTG	STYK1	-	NULL	ENSG00000060140		0.463	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYK1	HGNC	protein_coding	OTTHUMT00000399622.1	-	0	53	0	C	NM_018423		10772778	-1	tier1	-	no_errors	ENST00000075503	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.000	T	T	10772778	C	T	10772778	3	4	152	1	0	0	0	0	1	0	0	0	15406	565	20	3	38	3	STYK1	12	10772778	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	623211	10772778	123079117	224	38829											
TAS2R46	259292	genome.wustl.edu	37	chr12	11214770	11214770	+	Missense_Mutation	SNP	A	A	T	1	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	gagaatttggtcagcaaaagAgatcttttgtctcttgaacc	12	13	9	7	0	3	3	1	1	2	2	4	5	3	3	1	1	2	1	1	1	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:11214770A>T	ENST00000533467.1	-	1	123	c.124T>A	c.(124-126)Tct>Act	p.S42T	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	42					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)		TCAGCAAAAGAGATCTTTTGT	0.368																																																	0													55	53	54					12																	11214770		1959	4215	6174	SO:0001583	missense	0			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.124T>A	12.37:g.11214770A>T	ENSP00000436450:p.Ser42Thr		P59548|Q645X6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S42T	ENST00000533467.1	37	c.124	CCDS53748.1	12	.	.	.	.	.	.	.	.	.	.	A	12.53	1.966695	0.34659	.	.	ENSG00000226761	ENST00000533467	T	0.35236	1.32	2.54	1.27	0.21489	.	.	.	.	.	T	0.57198	0.2037	M	0.89353	3.025	0.09310	N	1	D	0.60575	0.988	D	0.63877	0.919	T	0.45116	-0.9283	9	0.66056	D	0.02	.	4.8315	0.13443	0.7272:0.0:0.0:0.2728	.	42	P59540	T2R46_HUMAN	T	42	ENSP00000436450:S42T	ENSP00000436450:S42T	S	-	1	0	TAS2R46	11106037	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	0.165000	0.16564	0.192000	0.20272	0.163000	0.16589	TCT	TAS2R46	-	pfam_TAS2_rcpt	ENSG00000226761		0.368	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R46	HGNC	protein_coding	OTTHUMT00000383559.1	-	0	139	0	A	NM_176887		11214770	-1	tier1	-	no_errors	ENST00000533467	ensembl	human	known	74_37	missense	12.50	97	14	SNP	0.001	T	T	11214770	A	T	11214770	3	4	152	1	0	0	0	0	1	0	0	0	15629	304	11	5	809	5	TAS2R46	12	11214770	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	441992	11214770	122637125	225	38830											
PRB2	653247	genome.wustl.edu	37	chr12	11546190	11546190	+	Silent	SNP	A	A	G	1	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	cctggaggtgggggaccttgAggtttgttgcctccttgtgg	3	13	17	8	0	0	1	0	1	0	0	1	3	1	3	4	6	1	2	4	6	0	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:11546190A>G	ENST00000389362.4	-	3	857	c.822T>C	c.(820-822)ccT>ccC	p.P274P	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	274	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].		S -> P (may abrogate glycosylation at N- 272; dbSNP:rs10845349). {ECO:0000269|PubMed:16541075, ECO:0000269|PubMed:8554050}.			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)			GGGGACCTTGAGGTTTGTTGC	0.612																																																	0													22	44	37					12																	11546190		1936	3878	5814	SO:0001819	synonymous_variant	0			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.822T>C	12.37:g.11546190A>G			O00599|P02811|P04281	Silent	SNP	NULL	p.P274	ENST00000389362.4	37	c.822	CCDS41757.2	12																																																																																			PRB2	-	NULL	ENSG00000121335		0.612	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	-	0	81	0	A	NM_006248		11546190	-1	tier1	-	no_errors	ENST00000389362	ensembl	human	known	74_37	silent	14.29	84	14	SNP	0.000	G	G	11546190	A	G	11546190	2	3	152	1	0	0	0	0	0	0	0	1	12485	291	11	4		4	PRB2	12	11546190	Silent	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	331420	11546190	122305705	226	38831											
BCL2L14	79370	genome.wustl.edu	37	chr12	12247487	12247487	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggttgacaccagcatcCagggttttccacaggatggt	8	11	11	11	0	0	1	0	1	0	0	2	2	2	2	4	4	1	3	4	4	0	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:12247487C>G	ENST00000308721.5	+	5	884				BCL2L14_ENST00000396367.1_Intron|BCL2L14_ENST00000266434.4_Missense_Mutation_p.Q241E|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000586576.1_Intron|BCL2L14_ENST00000589718.1_Intron	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)						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)		CACCAGCATCCAGGGTTTTCC	0.478																																																	0													111	92	98					12																	12247487		2203	4300	6503	SO:0001627	intron_variant	0			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.679-111C>G	12.37:g.12247487C>G			A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	NULL	p.Q241E	ENST00000308721.5	37	c.721	CCDS8645.1	12	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362028	0.24684	.	.	ENSG00000121380	ENST00000266434	.	.	.	3.66	0.81	0.18732	.	.	.	.	.	T	0.26085	0.0636	.	.	.	0.09310	N	1	B	0.20550	0.046	B	0.15484	0.013	T	0.29518	-1.0009	7	0.62326	D	0.03	.	1.0118	0.01498	0.185:0.4248:0.1803:0.21	.	241	Q9BZR8-2	.	E	241	.	ENSP00000266434:Q241E	Q	+	1	0	BCL2L14	12138754	0.000000	0.05858	0.000000	0.03702	0.279000	0.26890	0.096000	0.15147	0.172000	0.19760	0.650000	0.86243	CAG	BCL2L14	-	NULL	ENSG00000121380		0.478	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L14	HGNC	protein_coding	OTTHUMT00000355994.3	-	0	40	0	C	NM_030766		12247487	1	tier1	-	no_errors	ENST00000266434	ensembl	human	known	74_37	missense	44.12	19	15	SNP	0.000	G	G	12247487	C	G	12247487	1	3	152	0	1	0	0	0	0	0	0	0	1373	595	21	5		5	BCL2L14	12	12247487	Intron	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	701297	12247487	121604408	227	38832											
DDX11	1663	genome.wustl.edu	37	chr12	31250907	31250907	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaatgccgggcagtggtCattgcggggggtaccatgca	9	7	17	8	2	1	0	1	0	0	0	1	1	1	1	2	6	4	3	2	6	3	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:31250907C>A	ENST00000407793.2	+	18	2102	c.1851C>A	c.(1849-1851)gtC>gtA	p.V617V	DDX11_ENST00000545668.1_Silent_p.V617V|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.V617V|DDX11_ENST00000228264.6_Silent_p.V591V|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000350437.4_Silent_p.V617V	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	617					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)					GGGCAGTGGTCATTGCGGGGG	0.572										Multiple Myeloma(12;0.14)																																							0													58	61	60					12																	31250907		2201	4298	6499	SO:0001819	synonymous_variant	0			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.1851C>A	12.37:g.31250907C>A			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.V617	ENST00000407793.2	37	c.1851	CCDS44856.1	12																																																																																			DDX11	-	tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000013573		0.572	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	-	0	262	0	C	NM_030653		31250907	1	tier1	-	no_errors	ENST00000407793	ensembl	human	known	74_37	silent	5.26	198	11	SNP	1.000	A	A	31250907	C	A	31250907	2	1	152	1	0	0	0	0	0	0	0	1	4352	813	29	3		3	DDX11	12	31250907	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	19003420	31250907	102600988	228	38833											
BICD1	636	genome.wustl.edu	37	chr12	32487601	32487601	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagcaatgtttgcaacaaGgtaacagtattttcttccta	13	13	8	7	0	1	1	0	0	1	1	2	2	2	1	1	1	4	5	1	1	6	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:32487601G>T	ENST00000281474.5	+	6	2355	c.2252G>T	c.(2251-2253)aGa>aTa	p.R751I	BICD1_ENST00000548411.1_Splice_Site_p.R751I	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	751	Interacts with RAB6A.				anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTTGCAACAAGGTAACAGTAT	0.438																																																	0													154	140	145					12																	32487601		2203	4300	6503	SO:0001630	splice_region_variant	0			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2252+1G>T	12.37:g.32487601G>T			A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom	p.R751I	ENST00000281474.5	37	c.2252	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828662	0.90955	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.67865	-0.29;-0.29	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88911	0.3359	10	0.87932	D	0	.	18.2608	0.90035	0.0:0.0:1.0:0.0	.	751;751	F8W113;Q96G01	.;BICD1_HUMAN	I	751	ENSP00000446793:R751I;ENSP00000281474:R751I	ENSP00000281474:R751I	R	+	2	0	BICD1	32378868	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.611000	0.98342	2.318000	0.78349	0.591000	0.81541	AGA	BICD1	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000151746		0.438	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1	-	0	64	0	G	NM_001714	Missense_Mutation	32487601	1	tier1	-	no_errors	ENST00000281474	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	32487601	G	T	32487601	5	4	152	1	0	0	0	0	0	0	1	0	1430	1014	35	3	2274	3	BICD1	12	32487601	Splice_Site	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	1236694	32487601	101364294	229	38834											
KIF21A	55605	genome.wustl.edu	37	chr12	39734142	39734142	+	Missense_Mutation	SNP	T	T	G	0	1	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	acctaactttttttgcttttTcttctgagtaagattctacc	8	20	4	9	0	3	2	0	1	3	1	3	2	3	2	2	0	3	2	2	0	3	10			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:39734142T>G	ENST00000361418.5	-	16	2150	c.2135A>C	c.(2134-2136)gAa>gCa	p.E712A	KIF21A_ENST00000395670.3_Missense_Mutation_p.E712A|KIF21A_ENST00000361961.3_Missense_Mutation_p.E699A|KIF21A_ENST00000541463.2_Missense_Mutation_p.E699A|KIF21A_ENST00000544797.2_Missense_Mutation_p.E699A			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	712					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)				TTTTGCTTTTTCTTCTGAGTA	0.348																																																	0													79	64	69					12																	39734142		2202	4299	6501	SO:0001583	missense	0			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.2135A>C	12.37:g.39734142T>G	ENSP00000354878:p.Glu712Ala		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.E712A	ENST00000361418.5	37	c.2135	CCDS53776.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.730838|4.730838	0.89390|0.89390	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T|.	0.18338|.	2.22;2.22;2.22;2.22;2.22|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.56097|.	D|.	0.000040|.	T|T	0.72342|0.72342	0.3448|0.3448	M|M	0.69248|0.69248	2.105|2.105	0.58432|0.58432	D|D	0.999998|0.999998	P;D;P;D;D|.	0.62365|.	0.925;0.986;0.864;0.988;0.991|.	P;P;P;P;P|.	0.59487|.	0.616;0.737;0.493;0.717;0.858|.	T|T	0.72510|0.72510	-0.4271|-0.4271	10|5	0.51188|.	T|.	0.08|.	.|.	15.1155|15.1155	0.72397|0.72397	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	699;699;712;699;712|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3|.	.;.;KI21A_HUMAN;.;.|.	A|Q	699;712;712;699;712;699|60	ENSP00000354851:E699A;ENSP00000379029:E712A;ENSP00000445606:E699A;ENSP00000354878:E712A;ENSP00000438075:E699A|.	ENSP00000344501:E712A|.	E|K	-|-	2|1	0|0	KIF21A|KIF21A	38020409|38020409	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.738000|7.738000	0.84966|0.84966	1.972000|1.972000	0.57404|0.57404	0.533000|0.533000	0.62120|0.62120	GAA|AAA	KIF21A	-	NULL	ENSG00000139116		0.348	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1		0	21	0	T	NM_017641		39734142	-1			no_errors	ENST00000395670	ensembl	human	known	74_37	missense	33.33	16	8	SNP	1.000	G	G	39734142	T	G	39734142	3	3	152	1	0	0	0	0	1	0	0	0	8315	1783	62	4	2981	4	KIF21A	12	39734142	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	7246541	39734142	94117753	230	38835											
LIMA1	51474	genome.wustl.edu	37	chr12	50598456	50598456	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctactctcatttttctccGagtcaaatgtagaagatgac	11	14	7	9	1	4	3	2	1	3	2	6	4	4	3	1	0	1	1	1	0	4	4	rs370430368		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:50598456G>T	ENST00000341247.4	-	6	892	c.743C>A	c.(742-744)tCg>tAg	p.S248*	LIMA1_ENST00000552823.1_Nonsense_Mutation_p.S88*|LIMA1_ENST00000547825.1_5'Flank|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.S248*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.S88*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.S88*	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	248					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						ATTTTTCTCCGAGTCAAATGT	0.433																																																	0													132	121	125					12																	50598456		2203	4300	6503	SO:0001587	stop_gained	0			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.743C>A	12.37:g.50598456G>T	ENSP00000340184:p.Ser248*		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S248*	ENST00000341247.4	37	c.743	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	G	8.658	0.899902	0.17686	.	.	ENSG00000050405	ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	.	.	.	5.35	-0.752	0.11072	.	1.118860	0.06729	N	0.776418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3064	0.37878	0.441:0.0:0.559:0.0	.	.	.	.	X	88;248;248;88;88;167	.	ENSP00000340184:S248X	S	-	2	0	LIMA1	48884723	0.000000	0.05858	0.030000	0.17652	0.140000	0.21249	0.078000	0.14761	-0.118000	0.11851	-0.966000	0.02617	TCG	LIMA1	-	NULL	ENSG00000050405		0.433	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	-	0	38	0	G	NM_016357		50598456	-1	tier1	-	no_errors	ENST00000394943	ensembl	human	known	74_37	nonsense	8.16	44	4	SNP	0.029	T	T	50598456	G	T	50598456	4	4	152	1	0	0	0	0	0	1	0	0	8825	1059	37	2	1563	2	LIMA1	12	50598456	Nonsense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	10864314	50598456	83253439	231	38836											
KRT6B	3854	genome.wustl.edu	37	chr12	52841342	52841342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgttgacttgtccaacGccttcgccattcagcctgtg	7	12	9	13	2	1	2	1	1	0	1	3	2	2	2	4	0	2	1	4	0	1	4	rs373899186		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:52841342G>A	ENST00000252252.3	-	8	1487	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	480	Tail.				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)		CTTGTCCAACGCCTTCGCCAT	0.562																																																	0								G		0,4406		0,0,2203	148	115	126		1440	-1.2	1	12		126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT6B	NM_005555.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		480/565	52841342	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1440C>T	12.37:g.52841342G>A			P48669	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G480	ENST00000252252.3	37	c.1440	CCDS8828.1	12																																																																																			KRT6B	-	NULL	ENSG00000185479		0.562	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	-	0	98	0	G	NM_005555		52841342	-1	tier1	-	no_errors	ENST00000252252	ensembl	human	known	74_37	silent	18.05	109	24	SNP	0.951	A	A	52841342	G	A	52841342	2	1	152	1	0	0	0	0	0	0	0	1	8508	1074	38	1		1	KRT6B	12	52841342	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	2242886	52841342	81010553	232	38837											
KRT8	3856	genome.wustl.edu	37	chr12	53292543	53292543	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgacgttcatcagctcctgGtactcacgcagctgccgcgc	6	10	10	15	4	3	1	3	1	0	0	4	1	4	1	2	1	4	5	2	1	1	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:53292543G>T	ENST00000552551.1	-	7	1554	c.1122C>A	c.(1120-1122)taC>taA	p.Y374*	KRT8_ENST00000546897.1_Nonsense_Mutation_p.Y374*|KRT8_ENST00000293308.6_Nonsense_Mutation_p.Y374*|KRT8_ENST00000552150.1_Nonsense_Mutation_p.Y402*			P05787	K2C8_HUMAN	keratin 8	374	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	TCAGCTCCTGGTACTCACGCA	0.637																																																	0													87	87	87					12																	53292543		2203	4297	6500	SO:0001587	stop_gained	0			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"-", "Intermediate filaments type II, keratins (basic)"	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1122C>A	12.37:g.53292543G>T	ENSP00000447566:p.Tyr374*		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Nonsense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.Y374*	ENST00000552551.1	37	c.1122	CCDS8841.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.314050	0.97467	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000546897;ENST00000552150	.	.	.	4.39	4.39	0.52855	.	0.196250	0.45606	D	0.000359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3894	0.83528	0.0:0.0:1.0:0.0	.	.	.	.	X	374;374;374;402	.	ENSP00000293308:Y374X	Y	-	3	2	KRT8	51578810	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.993000	0.56987	2.375000	0.81037	0.561000	0.74099	TAC	KRT8	-	pfam_IF	ENSG00000170421		0.637	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	HGNC	protein_coding	OTTHUMT00000406385.1		0	84	0	G	NM_002273		53292543	-1			no_errors	ENST00000293308	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	1.000	T	T	53292543	G	T	53292543	4	4	152	1	0	0	0	0	0	1	0	0	8520	1256	44	3	341	3	KRT8	12	53292543	Nonsense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	451201	53292543	80559352	233	38838											
STAT2	6773	genome.wustl.edu	37	chr12	56737903	56737903	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaagctccagcggttgttGcagttcatccacctgtctgg	6	13	10	12	1	2	0	1	0	1	0	4	0	4	0	3	2	3	5	3	2	1	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:56737903G>A	ENST00000314128.4	-	23	2142	c.2119C>T	c.(2119-2121)Caa>Taa	p.Q707*	STAT2_ENST00000557235.1_Nonsense_Mutation_p.Q703*|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	707					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						agcGGTTGTTGCAGTTCATCC	0.517																																																	0													14	13	13					12																	56737903		2173	4255	6428	SO:0001587	stop_gained	0			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2119C>T	12.37:g.56737903G>A	ENSP00000315768:p.Gln707*		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Nonsense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.Q707*	ENST00000314128.4	37	c.2119	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311034	0.81358	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	.	.	.	4.16	4.16	0.48862	.	0.607202	0.13866	N	0.357328	.	.	.	.	.	.	0.53688	D	0.999979	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-1.6462	12.2472	0.54576	0.0:0.0:1.0:0.0	.	.	.	.	X	707;703	.	ENSP00000315768:Q707X	Q	-	1	0	STAT2	55024170	0.938000	0.31826	0.243000	0.24186	0.171000	0.22731	2.576000	0.46033	2.606000	0.88127	0.561000	0.74099	CAA	STAT2	-	NULL	ENSG00000170581		0.517	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	-	0	90	0	G	NM_005419		56737903	-1	tier1	-	no_errors	ENST00000314128	ensembl	human	known	74_37	nonsense	5.49	86	5	SNP	0.260	A	A	56737903	G	A	56737903	4	1	152	1	0	0	0	0	0	1	0	0	15312	1328	46	3	444	3	STAT2	12	56737903	Nonsense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	3445360	56737903	77113992	234	38839											
LRIG3	121227	genome.wustl.edu	37	chr12	59272738	59272738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggcatcacatgcatgcGtctctcccgtgcagctggga	6	9	12	14	3	2	0	1	0	1	0	5	1	3	1	1	2	4	4	1	2	0	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:59272738G>A	ENST00000320743.3	-	14	2237	c.1951C>T	c.(1951-1953)Cgc>Tgc	p.R651C	LRIG3_ENST00000379141.4_Missense_Mutation_p.R591C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	651	Ig-like C2-type 2.				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)			ACATGCATGCGTCTCTCCCGT	0.582			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													128	95	106					12																	59272738		2203	4300	6503	SO:0001583	missense	0			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.1951C>T	12.37:g.59272738G>A	ENSP00000326759:p.Arg651Cys		Q6UXL7|Q8NC72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R651C	ENST00000320743.3	37	c.1951	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568524	0.86439	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.53206	0.63;0.63	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37623	N	0.002003	T	0.82042	0.4951	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89418	0.3708	9	.	.	.	.	18.966	0.92697	0.0:0.0:1.0:0.0	.	591;651	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	C	591;651	ENSP00000368436:R591C;ENSP00000326759:R651C	.	R	-	1	0	LRIG3	57559005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.874000	0.87199	2.479000	0.83701	0.462000	0.41574	CGC	LRIG3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000139263		0.582	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	-	0	57	0	G	NM_153377		59272738	-1	tier1	-	no_errors	ENST00000320743	ensembl	human	known	74_37	missense	11.67	53	7	SNP	1.000	A	A	59272738	G	A	59272738	3	1	152	1	0	0	0	0	1	0	0	0	8981	1145	40	1	1432	1	LRIG3	12	59272738	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	2534835	59272738	74579157	235	38840											
TRHDE	29953	genome.wustl.edu	37	chr12	72956794	72956794	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgatatcagtgctaaaacTaaagcacttaaacttcagaa	18	11	5	7	0	2	2	2	1	0	1	2	2	2	2	0	0	4	2	0	0	9	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:72956794T>C	ENST00000261180.4	+	9	1977	c.1881T>C	c.(1879-1881)acT>acC	p.T627T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	627					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						GTGCTAAAACTAAAGCACTTA	0.294																																																	0													83	88	86					12																	72956794		2203	4295	6498	SO:0001819	synonymous_variant	0			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.1881T>C	12.37:g.72956794T>C			A5PL19|Q6UWJ4	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.T627	ENST00000261180.4	37	c.1881	CCDS9004.1	12																																																																																			TRHDE	-	NULL	ENSG00000072657		0.294	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	82	0	T	NM_013381		72956794	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	silent	40.30	40	27	SNP	1.000	C	C	72956794	T	C	72956794	2	2	152	1	0	0	0	0	0	0	0	1	16527	1509	53	4		4	TRHDE	12	72956794	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	13684056	72956794	60895101	236	38841											
C12orf64	283310	genome.wustl.edu	37	chr12	80663922	80663922	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaatgtgatgaattagcaAcgccctctgctggtaagatc	12	11	10	8	1	1	4	0	3	1	1	2	4	1	4	1	1	3	3	1	1	5	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:80663922A>C	ENST00000547103.1	+	22	2485	c.2479A>C	c.(2479-2481)Acg>Ccg	p.T827P	OTOGL_ENST00000458043.2_Missense_Mutation_p.T827P			Q3ZCN5	OTOGL_HUMAN	otogelin-like	827					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						TGAATTAGCAACGCCCTCTGC	0.383											OREG0011204|OREG0022007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model																																					0													102	99	100					12																	80663922		1928	4133	6061	SO:0001583	missense	0			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.2479A>C	12.37:g.80663922A>C	ENSP00000447211:p.Thr827Pro	1200	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.T827P	ENST00000547103.1	37	c.2479		12	.	.	.	.	.	.	.	.	.	.	A	1.995	-0.430831	0.04669	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.16597	2.33;2.33	5.36	2.78	0.32641	.	.	.	.	.	T	0.18635	0.0447	L	0.31294	0.92	0.34575	D	0.713876	.	.	.	.	.	.	T	0.28713	-1.0035	7	0.45353	T	0.12	.	12.27	0.54700	0.6793:0.3207:0.0:0.0	.	.	.	.	P	827	ENSP00000447211:T827P;ENSP00000400895:T827P	ENSP00000400895:T827P	T	+	1	0	OTOGL	79188053	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.173000	0.42472	0.951000	0.37770	0.528000	0.53228	ACG	OTOGL	-	smart_VWC_out	ENSG00000165899		0.383	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	-	0	90	0	A	NM_173591		80663922	1	tier1	-	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	13.92	67	11	SNP	0.999	C	C	80663922	A	C	80663922	3	2	152	1	0	0	0	0	1	0	0	0	1712	43	2	4	2565	4	C12orf64	12	80663922	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	7707128	80663922	53187973	237	38842											
ALX1	8092	genome.wustl.edu	37	chr12	85674059	85674059	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatggagtttctgagcgagaAgtttgccctcaagagccctc	9	11	11	10	1	2	3	1	1	1	2	3	5	2	4	2	1	3	2	2	1	3	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:85674059A>G	ENST00000316824.3	+	1	175	c.20A>G	c.(19-21)aAg>aGg	p.K7R		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	7					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTGAGCGAGAAGTTTGCCCTC	0.562																																																	0													62	62	62					12																	85674059		2203	4300	6503	SO:0001583	missense	0			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.20A>G	12.37:g.85674059A>G	ENSP00000315417:p.Lys7Arg		Q546C8|Q96FH4	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.K7R	ENST00000316824.3	37	c.20	CCDS9028.1	12	.	.	.	.	.	.	.	.	.	.	A	19.44	3.828439	0.71143	.	.	ENSG00000180318	ENST00000316824	D	0.94000	-3.33	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	N	0.24115	0.695	0.58432	D	0.999992	D	0.57571	0.98	D	0.68192	0.956	D	0.94558	0.7760	10	0.72032	D	0.01	.	14.6385	0.68706	1.0:0.0:0.0:0.0	.	7	Q15699	ALX1_HUMAN	R	7	ENSP00000315417:K7R	ENSP00000315417:K7R	K	+	2	0	ALX1	84198190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.371000	0.90123	1.916000	0.55485	0.528000	0.53228	AAG	ALX1	-	NULL	ENSG00000180318		0.562	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX1	HGNC	protein_coding	OTTHUMT00000406072.1	-	0	101	0	A	NM_006982		85674059	1	tier1	-	no_errors	ENST00000316824	ensembl	human	known	74_37	missense	21.95	64	18	SNP	1.000	G	G	85674059	A	G	85674059	3	3	152	1	0	0	0	0	1	0	0	0	556	72	3	4	22	4	ALX1	12	85674059	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	5010137	85674059	48177836	238	38843											
ALX1	8092	genome.wustl.edu	37	chr12	85677570	85677570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctagaggagctggagaaAgtctttcagaaaactcatta	15	9	10	7	0	3	3	2	0	1	3	3	5	3	4	0	2	3	2	0	2	5	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:85677570A>T	ENST00000316824.3	+	2	602	c.447A>T	c.(445-447)aaA>aaT	p.K149N		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	149					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AGCTGGAGAAAGTCTTTCAGA	0.488																																																	0													128	127	127					12																	85677570		2203	4300	6503	SO:0001583	missense	0			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.447A>T	12.37:g.85677570A>T	ENSP00000315417:p.Lys149Asn		Q546C8|Q96FH4	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.K149N	ENST00000316824.3	37	c.447	CCDS9028.1	12	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130651	0.56828	.	.	ENSG00000180318	ENST00000316824	D	0.96491	-4.03	5.59	-0.479	0.12089	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95341	0.8488	M	0.68593	2.085	0.80722	D	1	B	0.25719	0.132	B	0.40329	0.326	D	0.91365	0.5115	10	0.66056	D	0.02	.	9.3436	0.38096	0.5282:0.0:0.4718:0.0	.	149	Q15699	ALX1_HUMAN	N	149	ENSP00000315417:K149N	ENSP00000315417:K149N	K	+	3	2	ALX1	84201701	1.000000	0.71417	0.998000	0.56505	0.596000	0.36781	1.339000	0.33885	0.093000	0.17368	-0.977000	0.02584	AAA	ALX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000180318		0.488	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX1	HGNC	protein_coding	OTTHUMT00000406072.1	-	0	98	0	A	NM_006982		85677570	1	tier1	-	no_errors	ENST00000316824	ensembl	human	known	74_37	missense	30.95	58	26	SNP	0.992	T	T	85677570	A	T	85677570	3	4	152	1	0	0	0	0	1	0	0	0	556	69	3	5	453	5	ALX1	12	85677570	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	3511	85677570	48174325	239	38844											
HCFC2	29915	genome.wustl.edu	37	chr12	104492154	104492154	+	Nonsense_Mutation	SNP	A	A	T	1	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	caaatccagtggccacagtgAaagcgggagaacgacaatgg	15	4	13	9	2	0	2	0	1	0	1	1	4	1	2	2	3	2	0	2	3	4	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:104492154A>T	ENST00000229330.4	+	13	1878	c.1774A>T	c.(1774-1776)Aaa>Taa	p.K592*	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	592	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGCCACAGTGAAAGCGGGAGA	0.348																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													43	47	46					12																	104492154		2203	4300	6503	SO:0001587	stop_gained	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1774A>T	12.37:g.104492154A>T	ENSP00000229330:p.Lys592*		B2R8Q5|C0H5X3	Nonsense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.K592*	ENST00000229330.4	37	c.1774	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	A	38	7.278326	0.98182	.	.	ENSG00000111727	ENST00000229330	.	.	.	5.68	5.68	0.88126	.	0.322825	0.35739	N	0.003003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.5588	15.9325	0.79675	1.0:0.0:0.0:0.0	.	.	.	.	X	592	.	ENSP00000229330:K592X	K	+	1	0	HCFC2	103016284	1.000000	0.71417	0.998000	0.56505	0.808000	0.45660	5.391000	0.66266	2.169000	0.68431	0.528000	0.53228	AAA	HCFC2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000111727		0.348	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	-	0	172	0	A	NM_013320		104492154	1	tier1	-	no_errors	ENST00000229330	ensembl	human	known	74_37	nonsense	36.02	103	58	SNP	0.993	T	T	104492154	A	T	104492154	4	4	152	1	0	0	0	0	0	1	0	0	7020	247	9	5	1824	5	HCFC2	12	104492154	Nonsense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	18814584	104492154	29359741	240	38845											
RIC8B	55188	genome.wustl.edu	37	chr12	107254098	107254098	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgcaggactgttggcGgccaggggcctcttggctgg	5	9	17	10	1	1	0	0	0	1	0	1	1	1	1	2	7	2	4	2	7	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:107254098G>T	ENST00000392839.2	+	8	1465	c.1359G>T	c.(1357-1359)gcG>gcT	p.A453A	RIC8B_ENST00000392837.4_Silent_p.A453A|RIC8B_ENST00000355478.2_Silent_p.A413A|RIC8B_ENST00000549643.1_5'UTR	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	453					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GACTGTTGGCGGCCAGGGGCC	0.458																																																	0													84	81	82					12																	107254098		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.1359G>T	12.37:g.107254098G>T			A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Silent	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.A453	ENST00000392839.2	37	c.1359	CCDS9109.2	12																																																																																			RIC8B	-	pfam_Gua_nucleotide_exch_fac_Ric8,prints_Synembryn	ENSG00000111785		0.458	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	RIC8B	HGNC	protein_coding	OTTHUMT00000291398.2	-	0	64	0	G	NM_018157		107254098	1	tier1	-	no_errors	ENST00000392837	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.997	T	T	107254098	G	T	107254098	2	4	152	1	0	0	0	0	0	0	0	1	13401	1103	39	2		2	RIC8B	12	107254098	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	2761944	107254098	26597797	241	38846											
UBE3B	89910	genome.wustl.edu	37	chr12	109959273	109959273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggggatgagaggctgtacCcctcacccacatcctacatc	9	8	10	14	0	1	1	1	1	0	1	3	3	2	2	4	3	2	2	4	3	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:109959273C>A	ENST00000342494.3	+	21	2876	c.2281C>A	c.(2281-2283)Ccc>Acc	p.P761T	UBE3B_ENST00000434735.2_Missense_Mutation_p.P761T	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	761	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GAGGCTGTACCCCTCACCCAC	0.522																																																	0													98	85	90					12																	109959273		2203	4300	6503	SO:0001583	missense	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2281C>A	12.37:g.109959273C>A	ENSP00000340596:p.Pro761Thr		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.P761T	ENST00000342494.3	37	c.2281	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.148821	0.94603	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.60171	0.21;0.21;0.21	5.18	5.18	0.71444	HECT (4);	0.000000	0.85682	D	0.000000	D	0.82554	0.5062	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87028	0.2133	10	0.87932	D	0	-22.9212	17.86	0.88778	0.0:1.0:0.0:0.0	.	761	Q7Z3V4	UBE3B_HUMAN	T	761;761;761;188;56	ENSP00000391529:P761T;ENSP00000443131:P761T;ENSP00000340596:P761T	ENSP00000340596:P761T	P	+	1	0	UBE3B	108443656	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.273000	0.78527	2.684000	0.91462	0.655000	0.94253	CCC	UBE3B	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000151148		0.522	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	-	0	106	0	C	NM_183415		109959273	1	tier1	-	no_errors	ENST00000342494	ensembl	human	known	74_37	missense	5.38	88	5	SNP	1.000	A	A	109959273	C	A	109959273	3	1	152	1	0	0	0	0	1	0	0	0	16929	623	22	3	2355	3	UBE3B	12	109959273	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	2705175	109959273	23892622	242	38847											
NAA25	80018	genome.wustl.edu	37	chr12	112528595	112528595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcatctgtgggttcaaggGctgccacctcctgtgcaaga	7	11	12	11	0	3	1	2	0	1	1	4	1	4	1	3	2	2	3	3	2	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:112528595G>T	ENST00000261745.4	-	3	466	c.218C>A	c.(217-219)gCc>gAc	p.A73D		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	73						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGGTTCAAGGGCTGCCACCTC	0.423																																																	0													157	141	146					12																	112528595		2203	4300	6503	SO:0001583	missense	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.218C>A	12.37:g.112528595G>T	ENSP00000261745:p.Ala73Asp		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.A73D	ENST00000261745.4	37	c.218	CCDS9159.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.39|12.39	1.924694|1.924694	0.34002|0.34002	.|.	.|.	ENSG00000111300|ENSG00000111300	ENST00000261745|ENST00000547133	T|.	0.38240|.	1.15|.	5.4|5.4	4.51|4.51	0.55191|0.55191	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.191847|.	0.45867|.	D|.	0.000337|.	T|T	0.50735|0.50735	0.1633|0.1633	N|N	0.24115|0.24115	0.695|0.695	0.45621|0.45621	D|D	0.998553|0.998553	B;P|.	0.38335|.	0.09;0.627|.	B;B|.	0.35240|.	0.042;0.198|.	T|T	0.44997|0.44997	-0.9291|-0.9291	10|5	0.14656|.	T|.	0.56|.	-2.8497|-2.8497	14.3068|14.3068	0.66389|0.66389	0.0715:0.0:0.9285:0.0|0.0715:0.0:0.9285:0.0	.|.	73;73|.	A8K8X0;Q14CX7|.	.;NAA25_HUMAN|.	D|R	73|34	ENSP00000261745:A73D|.	ENSP00000261745:A73D|.	A|S	-|-	2|3	0|2	NAA25|NAA25	111012978|111012978	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	3.671000|3.671000	0.54576|0.54576	1.269000|1.269000	0.44280|0.44280	0.650000|0.650000	0.86243|0.86243	GCC|AGC	NAA25	-	pfscan_TPR-contain_dom	ENSG00000111300		0.423	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	-	0	90	0	G	NM_024953		112528595	-1	tier1	-	no_errors	ENST00000261745	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	112528595	G	T	112528595	3	4	152	1	0	0	0	0	1	0	0	0	10159	1203	42	3	2788	3	NAA25	12	112528595	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	2569322	112528595	21323300	243	38848											
MED13L	23389	genome.wustl.edu	37	chr12	116421996	116421996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cccatttacctaggtgatggCggcaaacttgcgcataaagt	11	10	10	10	2	0	1	0	1	0	0	0	1	0	1	2	3	3	2	2	3	5	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:116421996C>T	ENST00000281928.3	-	20	4726	c.4520G>A	c.(4519-4521)cGc>cAc	p.R1507H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1507						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)		TAGGTGATGGCGGCAAACTTG	0.418																																																	0													73	60	64					12																	116421996		2203	4300	6503	SO:0001583	missense	0			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.4520G>A	12.37:g.116421996C>T	ENSP00000281928:p.Arg1507His		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.R1507H	ENST00000281928.3	37	c.4520	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	18.45	3.625669	0.66901	.	.	ENSG00000123066	ENST00000281928	T	0.59364	0.27	5.43	5.43	0.79202	.	0.052833	0.85682	D	0.000000	T	0.74696	0.3750	M	0.66506	2.035	0.46798	D	0.9992	D	0.76494	0.999	D	0.65987	0.94	T	0.77130	-0.2701	10	0.87932	D	0	.	19.2439	0.93895	0.0:1.0:0.0:0.0	.	1507	Q71F56	MD13L_HUMAN	H	1507	ENSP00000281928:R1507H	ENSP00000281928:R1507H	R	-	2	0	MED13L	114906379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.920000	0.48844	2.538000	0.85594	0.655000	0.94253	CGC	MED13L	-	NULL	ENSG00000123066		0.418	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0	61	0	C			116421996	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	T	T	116421996	C	T	116421996	3	4	152	1	0	0	0	0	1	0	0	0	9469	768	27	1	2160	1	MED13L	12	116421996	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	3893401	116421996	17429899	244	38849											
BRI3BP	140707	genome.wustl.edu	37	chr12	125509682	125509682	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgtcctgcacgtggtgttCggccgcttcttctggatcgt	3	13	13	12	5	2	0	0	0	2	0	5	1	3	1	2	3	2	3	2	3	0	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:125509682C>T	ENST00000341446.8	+	3	553	c.462C>T	c.(460-462)ttC>ttT	p.F154F		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)		ACGTGGTGTTCGGCCGCTTCT	0.652																																																	0													122	94	103					12																	125509682		2203	4300	6503	SO:0001819	synonymous_variant	0			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.462C>T	12.37:g.125509682C>T				Silent	SNP	NULL	p.F154	ENST00000341446.8	37	c.462	CCDS9262.1	12																																																																																			BRI3BP	-	NULL	ENSG00000184992		0.652	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3BP	HGNC	protein_coding	OTTHUMT00000400200.2		0	61	0	C	NM_080626		125509682	1			no_errors	ENST00000341446	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.930	T	T	125509682	C	T	125509682	2	4	152	1	0	0	0	0	0	0	0	1	1517	883	31	1		1	BRI3BP	12	125509682	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	9087686	125509682	8342213	245	38850											
PIWIL1	9271	genome.wustl.edu	37	chr12	130833852	130833852	+	Missense_Mutation	SNP	A	A	G	1	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	cagcatcatgctctgcactgAcgttagccataaagtccttc	10	11	7	13	1	2	1	1	1	1	0	4	1	3	1	2	0	4	4	2	0	3	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:130833852A>G	ENST00000245255.3	+	8	1075	c.803A>G	c.(802-804)gAc>gGc	p.D268G		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	268					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)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CTCTGCACTGACGTTAGCCAT	0.413																																																	0													129	119	122					12																	130833852		2203	4300	6503	SO:0001583	missense	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.803A>G	12.37:g.130833852A>G	ENSP00000245255:p.Asp268Gly		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.D268G	ENST00000245255.3	37	c.803	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	A	21.7	4.186016	0.78789	.	.	ENSG00000125207	ENST00000245255	T	0.27557	1.66	5.85	5.85	0.93711	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79784	0.99;0.993	T	0.70357	-0.4894	10	0.87932	D	0	-17.1502	15.4187	0.74995	1.0:0.0:0.0:0.0	.	268;268	Q96J94;Q96J94-2	PIWL1_HUMAN;.	G	268	ENSP00000245255:D268G	ENSP00000245255:D268G	D	+	2	0	PIWIL1	129399805	1.000000	0.71417	0.798000	0.32154	0.458000	0.32498	9.299000	0.96137	2.222000	0.72286	0.533000	0.62120	GAC	PIWIL1	-	superfamily_PAZ_dom	ENSG00000125207		0.413	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	-	0	109	0	A			130833852	1	tier1	-	no_errors	ENST00000245255	ensembl	human	known	74_37	missense	19.19	80	19	SNP	1.000	G	G	130833852	A	G	130833852	3	3	152	1	0	0	0	0	1	0	0	0	11996	275	10	4	829	4	PIWIL1	12	130833852	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	5324170	130833852	3018043	246	38851											
RIMBP2	23504	genome.wustl.edu	37	chr12	130927081	130927081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccctccaggccgatgccGgaatggttgatgaagttctg	7	11	12	11	2	2	2	0	2	2	0	4	4	3	3	4	3	1	2	4	3	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr12:130927081G>A	ENST00000261655.4	-	8	928	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RIMBP2_ENST00000535703.1_Silent_p.S163S|RIMBP2_ENST00000536002.1_Silent_p.S163S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	255					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)		GGCCGATGCCGGAATGGTTGA	0.597																																																	0													193	179	184					12																	130927081		2203	4300	6503	SO:0001819	synonymous_variant	0			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.765C>T	12.37:g.130927081G>A			Q96ID2	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.S255	ENST00000261655.4	37	c.765	CCDS31925.1	12																																																																																			RIMBP2	-	NULL	ENSG00000060709		0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0	86	0	G	NM_015347		130927081	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	silent	6.58	71	5	SNP	0.000	A	A	130927081	G	A	130927081	2	1	152	1	0	0	0	0	0	0	0	1	13408	1103	39	1		1	RIMBP2	12	130927081	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	93229	130927081	2924814	247	38852											
MTUS2	23281	genome.wustl.edu	37	chr13	29600077	29600077	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcagcccactggcaaaatTtcaccatgtgcaggtgagaa	14	8	9	10	0	2	1	2	1	0	1	2	2	2	1	2	2	2	2	2	2	4	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr13:29600077T>G	ENST00000431530.3	+	1	1330	c.1272T>G	c.(1270-1272)atT>atG	p.I424M		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	414						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGGCAAAATTTCACCATGTG	0.507																																																	0													36	37	37					13																	29600077		1918	4139	6057	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1272T>G	13.37:g.29600077T>G	ENSP00000392057:p.Ile424Met		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.I424M	ENST00000431530.3	37	c.1272	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	t	10.66	1.413648	0.25465	.	.	ENSG00000132938	ENST00000431530	T	0.12255	2.7	5.64	-11.3	0.00108	.	2.209180	0.01863	N	0.036732	T	0.07052	0.0179	N	0.22421	0.69	0.09310	N	1	B	0.21225	0.053	B	0.12837	0.008	T	0.09378	-1.0677	9	.	.	.	.	7.2843	0.26328	0.0817:0.258:0.5234:0.1369	.	414	Q5JR59	MTUS2_HUMAN	M	424	ENSP00000392057:I424M	.	I	+	3	3	MTUS2	28498077	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.943000	0.03917	-2.379000	0.00595	0.533000	0.62120	ATT	MTUS2	-	NULL	ENSG00000132938		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	-	0	60	0	T	XM_166270		29600077	1	tier1	-	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	31.82	30	14	SNP	0.000	G	G	29600077	T	G	29600077	3	3	152	1	0	0	0	0	1	0	0	0	10004	1829	64	4	1274	4	MTUS2	13	29600077	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09		29600077	85569801	248	38853											
SPG20	23111	genome.wustl.edu	37	chr13	36900758	36900758	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactccattcaggtaattcTtttggcttttcttctggaac	7	18	6	10	0	5	0	2	0	3	0	6	1	6	1	1	3	1	2	1	3	2	8			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr13:36900758T>G	ENST00000451493.1	-	5	1459	c.1242A>C	c.(1240-1242)aaA>aaC	p.K414N	SPG20_ENST00000494062.2_Missense_Mutation_p.K414N|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.K414N|SPG20_ENST00000438666.2_Missense_Mutation_p.K414N	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	414					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)		CAGGTAATTCTTTTGGCTTTT	0.353																																																	0													102	90	94					13																	36900758		2203	4300	6503	SO:0001583	missense	0			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.1242A>C	13.37:g.36900758T>G	ENSP00000414147:p.Lys414Asn		O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	pfam_Senescence/spartin,pfam_MIT,smart_MIT	p.K414N	ENST00000451493.1	37	c.1242	CCDS9356.1	13	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787107	0.49997	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89939	-2.59;-2.59;-2.59	5.49	0.571	0.17352	.	0.374960	0.29100	N	0.013148	D	0.87857	0.6283	L	0.61218	1.895	0.42971	D	0.994438	D;P;D	0.56746	0.977;0.938;0.96	P;P;P	0.49451	0.611;0.502;0.611	D	0.85140	0.0980	10	0.51188	T	0.08	-10.6744	9.5341	0.39211	0.0:0.4423:0.0:0.5577	.	414;414;414	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	N	414	ENSP00000406061:K414N;ENSP00000347314:K414N;ENSP00000414147:K414N	ENSP00000347314:K414N	K	-	3	2	SPG20	35798758	0.982000	0.34865	0.932000	0.37286	0.909000	0.53808	0.124000	0.15728	0.152000	0.19188	0.460000	0.39030	AAA	SPG20	-	NULL	ENSG00000133104		0.353	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	-	0	72	0	T			36900758	-1	tier1	-	no_errors	ENST00000355182	ensembl	human	known	74_37	missense	12.50	70	10	SNP	0.994	G	G	36900758	T	G	36900758	3	3	152	1	0	0	0	0	1	0	0	0	15089	1606	56	4	778	4	SPG20	13	36900758	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	7300681	36900758	78269120	249	38854											
C13orf1	57213	genome.wustl.edu	37	chr13	50502175	50502175	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatctcggccaagaggaatCtgattcaagttaaccttctg	12	12	8	9	1	4	2	1	1	3	1	5	3	4	3	2	2	1	1	2	2	5	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr13:50502175C>G	ENST00000361840.3	-	3	374	c.270G>C	c.(268-270)caG>caC	p.Q90H	SPRYD7_ENST00000492258.1_5'Flank|SPRYD7_ENST00000378195.2_Missense_Mutation_p.Q51H	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	90	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						CAAGAGGAATCTGATTCAAGT	0.413																																																	0													141	130	134					13																	50502175		2203	4300	6503	SO:0001583	missense	0			AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178			14297	protein-coding gene	gene with protein product		607866	"chromosome 13 open reading frame 1"	C13orf1		11306461, 11771308	Standard	NM_020456		Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.270G>C	13.37:g.50502175C>G	ENSP00000354774:p.Gln90His		A8K3G1|O60648|Q8TBG8|Q96T69	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.Q90H	ENST00000361840.3	37	c.270	CCDS9422.1	13	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602470	0.66445	.	.	ENSG00000123178	ENST00000361840;ENST00000378195	T;T	0.61158	0.13;0.13	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	L	0.58101	1.795	0.54753	D	0.999988	D;D;D	0.62365	0.991;0.991;0.985	P;P;P	0.56163	0.781;0.793;0.781	T	0.65602	-0.6128	10	0.54805	T	0.06	-8.4264	9.7036	0.40203	0.0:0.8396:0.0:0.1604	.	90;51;90	B2RE68;Q5W111-2;Q5W111	.;.;SPRY7_HUMAN	H	90;51	ENSP00000354774:Q90H;ENSP00000367437:Q51H	ENSP00000354774:Q90H	Q	-	3	2	SPRYD7	49400176	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.009000	0.49552	2.661000	0.90470	0.655000	0.94253	CAG	SPRYD7	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000123178		0.413	SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRYD7	HGNC	protein_coding	OTTHUMT00000044942.2	-	0	103	0	C	NM_020456		50502175	-1	tier1	-	no_errors	ENST00000361840	ensembl	human	known	74_37	missense	22.33	80	23	SNP	1.000	G	G	50502175	C	G	50502175	3	3	152	1	0	0	0	0	1	0	0	0	1722	912	32	5	332	5	C13orf1	13	50502175	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	13601417	50502175	64667703	250	38855											
PCDH9	5101	genome.wustl.edu	37	chr13	66878787	66878787	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtcccatatagccttttcTtagagttggtgctccttagg	7	15	10	9	0	1	1	0	0	1	1	3	1	3	1	3	3	2	2	3	3	4	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr13:66878787T>G	ENST00000377865.2	-	4	3848	c.3714A>C	c.(3712-3714)taA>taC	p.*1238Y	PCDH9_ENST00000328454.5_Nonstop_Mutation_p.*1204Y|PCDH9_ENST00000456367.1_Nonstop_Mutation_p.*1204Y|PCDH9_ENST00000544246.1_Nonstop_Mutation_p.*1238Y|PCDH9-AS1_ENST00000430861.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	0					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAGCCTTTTCTTAGAGTTGGT	0.423																																																	0													91	92	91					13																	66878787		2203	4300	6503	SO:0001578	stop_lost	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3714A>C	13.37:g.66878787T>G			A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Nonstop_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.*1238Y	ENST00000377865.2	37	c.3714	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685946	0.68157	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	.	.	.	Y	1238;1238;1204;1204	.	.	X	-	3	2	PCDH9	65776788	1.000000	0.71417	0.811000	0.32455	0.934000	0.57294	7.375000	0.79646	2.320000	0.78422	0.528000	0.53228	TAA	PCDH9	-	NULL	ENSG00000184226		0.423	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	85	0	T	NM_203487		66878787	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	nonstop	32.88	49	24	SNP	1.000	G	G	66878787	T	G	66878787	4	3	152	1	0	0	0	0	0	0	0	0	11557	1616	56	4	3	4	PCDH9	13	66878787	Nonstop_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	16376612	66878787	48291091	251	38856											
KLHL1	57626	genome.wustl.edu	37	chr13	70514283	70514283	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcatgaggaagtggcaGcacacttccaccacctgtgg	10	8	11	12	0	1	1	1	1	0	0	2	2	2	2	3	3	2	3	3	3	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr13:70514283G>T	ENST00000377844.4	-	4	1662	c.903C>A	c.(901-903)tgC>tgA	p.C301*	KLHL1_ENST00000545028.1_Nonsense_Mutation_p.C108*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	301					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGAAGTGGCAGCACACTTCCA	0.468																																																	0													73	65	68					13																	70514283		2203	4300	6503	SO:0001587	stop_gained	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.903C>A	13.37:g.70514283G>T	ENSP00000367075:p.Cys301*		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.C301*	ENST00000377844.4	37	c.903	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	G	40	8.219296	0.98712	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	.	.	.	5.67	2.97	0.34412	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9668	0.35881	0.2985:0.0:0.7015:0.0	.	.	.	.	X	301;108	.	ENSP00000367075:C301X	C	-	3	2	KLHL1	69412284	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.408000	0.44574	0.734000	0.32515	0.557000	0.71058	TGC	KLHL1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000150361		0.468	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	-	0	81	0	G	NM_020866		70514283	-1	tier1	-	no_errors	ENST00000377844	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	1.000	T	T	70514283	G	T	70514283	4	4	152	1	0	0	0	0	0	1	0	0	8392	963	34	3	1375	3	KLHL1	13	70514283	Nonsense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	3635496	70514283	44655595	252	38857											
TGDS	23483	genome.wustl.edu	37	chr13	95229644	95229644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctatcattaacataatcaaCccaattttccatttcagact	14	14	1	12	0	3	1	3	0	0	1	4	1	4	1	3	0	2	0	3	0	5	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr13:95229644C>T	ENST00000261296.5	-	10	985	c.865G>A	c.(865-867)Gtt>Att	p.V289I	TGDS_ENST00000498294.1_5'Flank	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	289					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACATAATCAACCCAATTTTCC	0.308																																																	0													109	118	115					13																	95229644		2203	4290	6493	SO:0001583	missense	0			AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	20324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 2E, member 1"					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.865G>A	13.37:g.95229644C>T	ENSP00000261296:p.Val289Ile		Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd	p.V289I	ENST00000261296.5	37	c.865	CCDS9471.1	13	.	.	.	.	.	.	.	.	.	.	C	5.274	0.236006	0.10023	.	.	ENSG00000088451	ENST00000261296	D	0.87256	-2.23	6.06	6.06	0.98353	.	0.256822	0.39687	N	0.001288	T	0.62708	0.2450	N	0.01417	-0.88	0.34425	D	0.697884	B	0.02656	0.0	B	0.04013	0.001	T	0.64504	-0.6392	10	0.02654	T	1	.	9.4483	0.38710	0.0:0.883:0.0:0.117	.	289	O95455	TGDS_HUMAN	I	289	ENSP00000261296:V289I	ENSP00000261296:V289I	V	-	1	0	TGDS	94027645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.716000	0.37981	2.871000	0.98454	0.655000	0.94253	GTT	TGDS	-	pfam_dTDP_dehydrorham_reduct	ENSG00000088451		0.308	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGDS	HGNC	protein_coding	OTTHUMT00000106904.2	-	0	127	0	C	NM_014305		95229644	-1	tier1	-	no_errors	ENST00000261296	ensembl	human	known	74_37	missense	19.82	89	22	SNP	1.000	T	T	95229644	C	T	95229644	3	4	152	1	0	0	0	0	1	0	0	0	15861	507	18	3	199	3	TGDS	13	95229644	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	24715361	95229644	19940234	253	38858											
PRKD1	5587	genome.wustl.edu	37	chr14	30068927	30068927	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcacttgacaagatcatttCcagcatgtctccatggagtt	10	14	7	10	0	3	2	2	1	1	1	5	3	4	3	2	1	1	2	2	1	1	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr14:30068927C>A	ENST00000331968.5	-	14	2231	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*	PRKD1_ENST00000415220.2_Nonsense_Mutation_p.E676*	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	668	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AAGATCATTTCCAGCATGTCT	0.378																																																	0													117	115	115					14																	30068927		2203	4300	6503	SO:0001587	stop_gained	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2002G>T	14.37:g.30068927C>A	ENSP00000333568:p.Glu668*		A6NL64|B2RAF6	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.E668*	ENST00000331968.5	37	c.2002	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	C	40	8.316834	0.98757	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.2698	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	668;676	.	ENSP00000333568:E668X	E	-	1	0	PRKD1	29138678	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	GAA	PRKD1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000184304		0.378	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	-	0	72	0	C	NM_002742		30068927	-1	tier1	-	no_errors	ENST00000331968	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	A	A	30068927	C	A	30068927	4	1	152	1	0	0	0	0	0	1	0	0	12560	864	30	3	756	3	PRKD1	14	30068927	Nonsense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09		30068927	77280613	254	38859											
MAPK1IP1L	93487	genome.wustl.edu	37	chr14	55529590	55529590	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccctttcctccttcCggaccatcatgtcccccacc	6	9	4	22	1	1	0	1	0	0	0	5	1	5	1	9	1	1	1	9	1	0	2	rs150397932		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr14:55529590C>A	ENST00000395468.4	+	3	450	c.273C>A	c.(271-273)tcC>tcA	p.S91S	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	91	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						TTCCTCCTTCCGGACCATCAT	0.617																																																	0													61	54	56					14																	55529590		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 32", "mitogen activated protein kinase 1 interacting protein 1-like"	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.273C>A	14.37:g.55529590C>A			B2RDD8|Q96BG5	Silent	SNP	NULL	p.S91	ENST00000395468.4	37	c.273	CCDS32085.1	14																																																																																			MAPK1IP1L	-	NULL	ENSG00000168175		0.617	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK1IP1L	HGNC	protein_coding	OTTHUMT00000411302.2	-	0	97	0	C	NM_144578		55529590	1	tier1	-	no_errors	ENST00000395468	ensembl	human	known	74_37	silent	6.82	82	6	SNP	1.000	A	A	55529590	C	A	55529590	2	1	152	1	0	0	0	0	0	0	0	1	9316	639	23	2		2	MAPK1IP1L	14	55529590	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	25460663	55529590	51819950	255	38860											
RTN1	6252	genome.wustl.edu	37	chr14	60193978	60193978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggctctcctccgaggccGaggaggcgtcgcacgactcg	5	6	16	14	6	1	0	0	0	1	0	5	4	2	1	3	5	0	2	3	5	0	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr14:60193978G>A	ENST00000267484.5	-	3	1759	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	475					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)		CTCCGAGGCCGAGGAGGCGTC	0.697																																																	0													7	8	8					14																	60193978		2155	4208	6363	SO:0001583	missense	0			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.1424C>T	14.37:g.60193978G>A	ENSP00000267484:p.Ser475Leu		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.S475L	ENST00000267484.5	37	c.1424	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236605	0.79800	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.36520	1.25	5.37	4.48	0.54585	.	0.000000	0.45606	D	0.000343	T	0.57577	0.2063	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.62120	-0.6921	10	0.87932	D	0	.	14.0062	0.64465	0.0733:0.0:0.9267:0.0	.	475	Q16799	RTN1_HUMAN	L	55;475;401	ENSP00000267484:S475L	ENSP00000267484:S475L	S	-	2	0	RTN1	59263731	1.000000	0.71417	0.961000	0.40146	0.734000	0.41952	9.257000	0.95545	1.273000	0.44346	-0.136000	0.14681	TCG	RTN1	-	NULL	ENSG00000139970		0.697	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	-	0	46	0	G			60193978	-1	tier1	-	no_errors	ENST00000267484	ensembl	human	known	74_37	missense	70.45	13	31	SNP	0.998	A	A	60193978	G	A	60193978	3	1	152	1	0	0	0	0	1	0	0	0	13770	1059	37	1	999	1	RTN1	14	60193978	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	4664388	60193978	47155562	256	38861											
CCDC88C	440193	genome.wustl.edu	37	chr14	91780030	91780030	+	Silent	SNP	G	G	T	0	0	1	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	cgcatggtctccaccagcctGcgcagctccaggttctctgc	5	9	10	17	2	2	0	0	0	2	0	5	0	3	0	4	2	4	4	4	2	0	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr14:91780030G>T	ENST00000389857.6	-	15	2216	c.2130C>A	c.(2128-2130)cgC>cgA	p.R710R		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	710					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCACCAGCCTGCGCAGCTCCA	0.602																																																	0													49	51	51					14																	91780030		2149	4258	6407	SO:0001819	synonymous_variant	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2130C>A	14.37:g.91780030G>T			Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.R710	ENST00000389857.6	37	c.2130	CCDS45151.1	14																																																																																			CCDC88C	-	NULL	ENSG00000015133		0.602	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	-	0	21	0	G	XM_029353		91780030	-1	tier1	-	no_errors	ENST00000389857	ensembl	human	known	74_37	silent	18.75	13	3	SNP	0.000	T	T	91780030	G	T	91780030	2	4	152	1	0	0	0	0	0	0	0	1	2872	1306	46	3		3	CCDC88C	14	91780030	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	31586052	91780030	15569510	257	38862											
FBLN5	10516	genome.wustl.edu	37	chr14	92347700	92347700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcatttgaagcccccttGtaaattgtagcacgtctgct	10	13	8	10	1	1	1	0	1	1	0	1	1	1	1	2	0	4	5	2	0	5	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr14:92347700G>T	ENST00000342058.4	-	9	1518	c.925C>A	c.(925-927)Caa>Aaa	p.Q309K	FBLN5_ENST00000267620.10_Missense_Mutation_p.Q350K|FBLN5_ENST00000556154.1_Missense_Mutation_p.Q314K	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	309	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AAGCCCCCTTGTAAATTGTAG	0.527																																																	0													108	89	96					14																	92347700		2203	4300	6503	SO:0001583	missense	0			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.925C>A	14.37:g.92347700G>T	ENSP00000345008:p.Gln309Lys		O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.Q309K	ENST00000342058.4	37	c.925	CCDS9898.1	14	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555438	0.65425	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.91792	-2.91;-2.91;-2.91	5.5	5.5	0.81552	EGF-like calcium-binding, conserved site (1);	0.123586	0.56097	D	0.000032	D	0.89873	0.6841	L	0.38953	1.18	0.47994	D	0.999564	P;B;B	0.38395	0.629;0.218;0.083	B;B;B	0.41571	0.36;0.056;0.038	D	0.87454	0.2403	10	0.25106	T	0.35	.	19.7664	0.96346	0.0:0.0:1.0:0.0	.	350;314;309	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	K	350;309;314	ENSP00000267620:Q350K;ENSP00000345008:Q309K;ENSP00000451982:Q314K	ENSP00000267620:Q406K	Q	-	1	0	FBLN5	91417453	1.000000	0.71417	0.985000	0.45067	0.908000	0.53690	8.009000	0.88606	2.735000	0.93741	0.655000	0.94253	CAA	FBLN5	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000140092		0.527	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBLN5	HGNC	protein_coding	OTTHUMT00000411787.1	-	0	44	0	G			92347700	-1	tier1	-	no_errors	ENST00000342058	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	92347700	G	T	92347700	3	4	152	1	0	0	0	0	1	0	0	0	5722	1386	48	3	433	3	FBLN5	14	92347700	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	567670	92347700	15001840	258	38863											
RIN3	79890	genome.wustl.edu	37	chr14	93125514	93125514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttacctgcagaagcaattGtagagtctgccttgtacaaa	12	12	9	8	0	1	2	0	0	1	2	1	2	1	2	2	0	5	5	2	0	6	6	rs150023914	byFrequency	TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr14:93125514G>T	ENST00000216487.7	+	7	2194	c.2035G>T	c.(2035-2037)Gta>Tta	p.V679L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	679	Interaction with RAB5B.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGAAGCAATTGTAGAGTCTGC	0.537																																																	0													288	300	296					14																	93125514		2203	4300	6503	SO:0001583	missense	0			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2035G>T	14.37:g.93125514G>T	ENSP00000216487:p.Val679Leu		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.V679L	ENST00000216487.7	37	c.2035	CCDS32144.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.787|5.787	0.329572|0.329572	0.10956|0.10956	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000556418|ENST00000216487;ENST00000428147	.|T	.|0.27557	.|1.66	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.213952	.|0.38272	.|N	.|0.001758	T|T	0.15869|0.15869	0.0382|0.0382	N|N	0.16743|0.16743	0.435|0.435	0.80722|0.80722	D|D	1|1	.|B;P;P;P	.|0.40360	.|0.14;0.615;0.615;0.714	.|B;B;B;B	.|0.34242	.|0.174;0.1;0.159;0.178	T|T	0.07654|0.07654	-1.0761|-1.0761	5|10	.|0.06099	.|T	.|0.92	-32.0639|-32.0639	14.3034|14.3034	0.66368|0.66368	0.0707:0.0:0.9293:0.0|0.0707:0.0:0.9293:0.0	.|.	.|679;725;604;679	.|Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.|.;.;.;RIN3_HUMAN	F|L	195|679;603	.|ENSP00000216487:V679L	.|ENSP00000216487:V679L	C|V	+|+	2|1	0|0	RIN3|RIN3	92195267|92195267	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.973000|0.973000	0.67179|0.67179	3.018000|3.018000	0.49625|0.49625	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	TGT|GTA	RIN3	-	NULL	ENSG00000100599		0.537	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN3	HGNC	protein_coding	OTTHUMT00000412269.1	-	0	51	0	G			93125514	1	tier1	-	no_errors	ENST00000216487	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.956	T	T	93125514	G	T	93125514	3	4	152	1	0	0	0	0	1	0	0	0	13418	1377	48	3	2061	3	RIN3	14	93125514	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	777814	93125514	14224026	259	38864											
ITPK1	3705	genome.wustl.edu	37	chr14	93412701	93412701	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcattgatgtcaatgacGgcgtgctgccctgtctggtt	7	12	13	9	2	2	2	1	2	1	0	2	2	2	2	1	3	2	3	1	3	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr14:93412701G>T	ENST00000267615.6	-	10	1049	c.876C>A	c.(874-876)gcC>gcA	p.A292A	ITPK1_ENST00000556603.2_Silent_p.A292A|ITPK1_ENST00000354313.3_Silent_p.A292A|ITPK1_ENST00000555495.1_Silent_p.A173A|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	292	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				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)		TGTCAATGACGGCGTGCTGCC	0.642																																																	0													129	113	118					14																	93412701		2203	4300	6503	SO:0001819	synonymous_variant	0			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.876C>A	14.37:g.93412701G>T			Q9BTL6|Q9H2E7	Silent	SNP	pfam_Inositol_tetrakis-P_1-kinase	p.A292	ENST00000267615.6	37	c.876	CCDS9907.1	14																																																																																			ITPK1	-	pfam_Inositol_tetrakis-P_1-kinase	ENSG00000100605		0.642	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1	HGNC	protein_coding	OTTHUMT00000412421.2		0	71	0	G	NM_014216		93412701	-1			no_errors	ENST00000267615	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.003	T	T	93412701	G	T	93412701	2	4	152	1	0	0	0	0	0	0	0	1	7943	1103	39	2		2	ITPK1	14	93412701	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	287187	93412701	13936839	260	38865											
KIF26A	26153	genome.wustl.edu	37	chr14	104638926	104638926	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctaggccgaagtctgctcGgggaccgtggccgacgtgct	5	7	15	14	5	1	0	0	0	1	0	2	3	1	1	4	4	2	2	4	4	2	1	rs2275595	byFrequency	TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr14:104638926G>T	ENST00000423312.2	+	7	1341	c.1341G>T	c.(1339-1341)tcG>tcT	p.S447S	KIF26A_ENST00000315264.7_Silent_p.S308S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	447	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AAGTCTGCTCGGGGACCGTGG	0.642																																																	0													63	67	66					14																	104638926		2085	4208	6293	SO:0001819	synonymous_variant	0			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.1341G>T	14.37:g.104638926G>T			Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.S447	ENST00000423312.2	37	c.1341	CCDS45171.1	14																																																																																			KIF26A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000066735		0.642	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	-	0	60	0	G			104638926	1	tier1	-	no_errors	ENST00000423312	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.886	T	T	104638926	G	T	104638926	2	4	152	1	0	0	0	0	0	0	0	1	8321	1103	39	2		2	KIF26A	14	104638926	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	11226225	104638926	2710614	261	38866											
KIF26A	26153	genome.wustl.edu	37	chr14	104641967	104641967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tgagtggaggcaggaggccaCtgcccagcccggctccccca	7	4	14	16	1	0	1	0	1	0	0	1	3	1	3	5	5	2	2	5	5	0	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr14:104641967C>A	ENST00000423312.2	+	12	2842	c.2842C>A	c.(2842-2844)Ctg>Atg	p.L948M	KIF26A_ENST00000315264.7_Missense_Mutation_p.L809M	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	948					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)		CAGGAGGCCACTGCCCAGCCC	0.667																																																	0													11	14	13					14																	104641967		1906	4066	5972	SO:0001583	missense	0			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.2842C>A	14.37:g.104641967C>A	ENSP00000388241:p.Leu948Met		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.L948M	ENST00000423312.2	37	c.2842	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	c	4.908	0.168810	0.09339	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	D;D	0.87887	-2.31;-2.27	3.88	2.97	0.34412	.	.	.	.	.	D	0.84009	0.5378	N	0.12443	0.215	0.26809	N	0.969041	D	0.89917	1.0	D	0.79108	0.992	T	0.72478	-0.4281	9	0.09338	T	0.73	.	10.1596	0.42844	0.0:0.7576:0.0:0.2424	.	948	Q9ULI4	KI26A_HUMAN	M	948;809	ENSP00000388241:L948M;ENSP00000325452:L809M	ENSP00000325452:L809M	L	+	1	2	KIF26A	103711720	0.993000	0.37304	0.018000	0.16275	0.099000	0.18886	1.440000	0.35024	0.245000	0.21373	-1.829000	0.00594	CTG	KIF26A	-	NULL	ENSG00000066735		0.667	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	-	0	61	0	C			104641967	1	tier1	-	no_errors	ENST00000423312	ensembl	human	known	74_37	missense	72.73	6	16	SNP	0.046	A	A	104641967	C	A	104641967	3	1	152	1	0	0	0	0	1	0	0	0	8321	564	20	3	2888	3	KIF26A	14	104641967	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	3041	104641967	2707573	262	38867											
OR4M2	390538	genome.wustl.edu	37	chr15	22368647	22368647	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagactccagaggtccaActagtcctatttgttatatt	10	14	6	11	0	0	2	0	0	0	2	4	2	4	2	4	1	1	1	4	1	5	6	rs540449594		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:22368647A>C	ENST00000332663.2	+	1	170	c.72A>C	c.(70-72)caA>caC	p.Q24H	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	24						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)		CAGAGGTCCAACTAGTCCTAT	0.383																																																	0													294	260	271					15																	22368647		2203	4300	6503	SO:0001583	missense	0			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.72A>C	15.37:g.22368647A>C	ENSP00000329467:p.Gln24His		B9EH16|Q6IEY2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q24H	ENST00000332663.2	37	c.72	CCDS32172.1	15	.	.	.	.	.	.	.	.	.	.	.	12.69	2.012263	0.35511	.	.	ENSG00000182974	ENST00000332663	T	0.00601	6.29	2.5	1.34	0.21922	.	0.000000	0.45361	D	0.000376	T	0.02012	0.0063	M	0.80422	2.495	0.29984	N	0.817431	D	0.89917	1.0	D	0.91635	0.999	T	0.20438	-1.0275	10	0.72032	D	0.01	-6.2959	5.1627	0.15070	0.8309:0.0:0.1691:0.0	.	24	Q8NGB6	OR4M2_HUMAN	H	24	ENSP00000329467:Q24H	ENSP00000329467:Q24H	Q	+	3	2	OR4M2	19870011	0.000000	0.05858	0.983000	0.44433	0.578000	0.36192	-0.723000	0.04952	0.233000	0.21120	0.368000	0.22195	CAA	OR4M2	-	NULL	ENSG00000182974		0.383	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	OR4M2	HGNC	protein_coding	OTTHUMT00000414921.1	-	0	314	0	A			22368647	1	tier1	-	no_errors	ENST00000332663	ensembl	human	putative	74_37	missense	6.64	211	15	SNP	1.000	C	C	22368647	A	C	22368647	3	2	152	1	0	0	0	0	1	0	0	0	11115	40	2	4	74	4	OR4M2	15	22368647	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09		22368647	80162745	263	38868											
CYFIP1	23191	genome.wustl.edu	37	chr15	22946996	22946996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaccccaccgacaagtaCtccaacaaggactgccccga	12	4	8	17	2	0	0	0	0	0	0	1	3	1	1	6	1	4	2	6	1	4	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:22946996C>T	ENST00000313077.7	+	13	1394	c.1269C>T	c.(1267-1269)taC>taT	p.Y423Y	CYFIP1_ENST00000560848.1_Silent_p.Y423Y	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCGACAAGTACTCCAACAAGG	0.562																																																	0													154	131	138					15																	22946996		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1269C>T	15.37:g.22946996C>T				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.Y423	ENST00000313077.7	37	c.1269	CCDS10009.1	15																																																																																			CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.562	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	-	0	86	0	C	NM_014608		22946996	1	tier1	-	no_errors	ENST00000313077	ensembl	human	known	74_37	silent	33.33	38	19	SNP	1.000	T	T	22946996	C	T	22946996	2	4	152	1	0	0	0	0	0	0	0	1	4146	576	20	3		3	CYFIP1	15	22946996	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	578349	22946996	79584396	264	38869											
HERC2	8924	genome.wustl.edu	37	chr15	28451468	28451468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgctgcaagaggatcatgGggggctgcggcccttcagga	7	7	17	10	1	2	1	2	0	0	1	2	3	2	3	1	6	3	4	1	6	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:28451468G>A	ENST00000261609.7	-	45	7238	c.7130C>T	c.(7129-7131)cCc>cTc	p.P2377L		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)		GAGGATCATGGGGGGCTGCGG	0.498																																																	0													1	1	1					15																	28451468		415	1340	1755	SO:0001583	missense	0			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.7130C>T	15.37:g.28451468G>A	ENSP00000261609:p.Pro2377Leu			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.P2377L	ENST00000261609.7	37	c.7130	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818777	0.71028	.	.	ENSG00000128731	ENST00000261609	T	0.37915	1.17	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.61307	-0.7089	10	0.66056	D	0.02	.	17.0659	0.86559	0.0:0.0:1.0:0.0	.	2377	O95714	HERC2_HUMAN	L	2377	ENSP00000261609:P2377L	ENSP00000261609:P2377L	P	-	2	0	HERC2	26125063	1.000000	0.71417	0.837000	0.33122	0.944000	0.59088	9.402000	0.97298	2.239000	0.73571	0.449000	0.29647	CCC	HERC2	-	NULL	ENSG00000128731		0.498	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	106	0	G	NM_004667		28451468	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	19.74	61	15	SNP	0.999	A	A	28451468	G	A	28451468	3	1	152	1	0	0	0	0	1	0	0	0	7085	1232	43	3	7570	3	HERC2	15	28451468	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	5504472	28451468	74079924	265	38870											
TRPM1	4308	genome.wustl.edu	37	chr15	31339406	31339406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcccatgaggtactccagcaCgagcccgatgtctatgaggc	9	8	11	13	2	1	2	0	2	1	0	3	4	3	2	3	2	3	2	3	2	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:31339406C>T	ENST00000256552.6	-	15	1819	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	TRPM1_ENST00000397795.2_Missense_Mutation_p.V536M|TRPM1_ENST00000542188.1_Missense_Mutation_p.V575M	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)		TACTCCAGCACGAGCCCGATG	0.512																																																	0													99	99	99					15																	31339406		1996	4162	6158	SO:0001583	missense	0			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.1672G>A	15.37:g.31339406C>T	ENSP00000256552:p.Val558Met			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.V575M	ENST00000256552.6	37	c.1723	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538833	0.85917	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.59638	0.26;0.25;0.28	5.48	4.55	0.56014	.	0.063075	0.64402	D	0.000006	T	0.78027	0.4219	M	0.83223	2.63	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.82329	-0.0511	10	0.87932	D	0	-20.181	16.0599	0.80832	0.0:0.8655:0.1345:0.0	.	530;536	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	536;575;558;536	ENSP00000380897:V536M;ENSP00000437849:V575M;ENSP00000256552:V558M	ENSP00000256552:V558M	V	-	1	0	TRPM1	29126698	1.000000	0.71417	0.876000	0.34364	0.903000	0.53119	4.885000	0.63142	1.263000	0.44181	0.637000	0.83480	GTG	TRPM1	-	NULL	ENSG00000134160		0.512	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	-	0	119	0	C	NM_002420		31339406	-1	tier1	-	no_errors	ENST00000542188	ensembl	human	known	74_37	missense	28.95	54	22	SNP	0.999	T	T	31339406	C	T	31339406	3	4	152	1	0	0	0	0	1	0	0	0	16633	536	19	1	3261	1	TRPM1	15	31339406	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	2887938	31339406	71191986	266	38871											
RYR3	6263	genome.wustl.edu	37	chr15	34080575	34080575	+	Missense_Mutation	SNP	T	T	G	0	1	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	ggacacccaggaggcagaacTcctcatcctggacgagttcg	10	6	12	13	2	1	1	1	0	0	1	4	5	3	4	3	4	1	2	3	4	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:34080575T>G	ENST00000389232.4	+	67	9816	c.9746T>G	c.(9745-9747)cTc>cGc	p.L3249R	RYR3_ENST00000415757.3_Missense_Mutation_p.L3249R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3249					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)		GAGGCAGAACTCCTCATCCTG	0.557																																																	0													87	94	92					15																	34080575		2047	4199	6246	SO:0001583	missense	0				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.9746T>G	15.37:g.34080575T>G	ENSP00000373884:p.Leu3249Arg		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L3249R	ENST00000389232.4	37	c.9746	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	T	14.74	2.624583	0.46840	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97066	-4.23;-4.23	4.4	4.4	0.53042	.	0.000000	0.64402	D	0.000002	D	0.97294	0.9115	L	0.49350	1.555	0.52099	D	0.999941	D;D	0.89917	0.999;1.0	D;D	0.91635	0.974;0.999	D	0.97210	0.9870	10	0.66056	D	0.02	.	10.2861	0.43568	0.0:0.0:0.1656:0.8344	.	3249;3249	Q15413-2;Q15413	.;RYR3_HUMAN	R	3249	ENSP00000373884:L3249R;ENSP00000399610:L3249R	ENSP00000354735:L3249R	L	+	2	0	RYR3	31867867	1.000000	0.71417	0.987000	0.45799	0.268000	0.26511	5.990000	0.70595	1.980000	0.57719	0.533000	0.62120	CTC	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	74	0	T			34080575	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	20.75	41	11	SNP	0.999	G	G	34080575	T	G	34080575	3	3	152	1	0	0	0	0	1	0	0	0	13815	1551	54	4	10012	4	RYR3	15	34080575	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	2741169	34080575	68450817	267	38872											
UNC13C	440279	genome.wustl.edu	37	chr15	54306737	54306737	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattttttcactgctaaacTtagtcgttctgaatcagatt	10	18	6	7	1	3	3	2	2	1	1	4	3	3	3	0	0	2	2	0	0	4	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:54306737T>G	ENST00000260323.11	+	1	1637	c.1637T>G	c.(1636-1638)cTt>cGt	p.L546R	UNC13C_ENST00000537900.1_Missense_Mutation_p.L546R|UNC13C_ENST00000545554.1_Missense_Mutation_p.L546R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	546					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)		ACTGCTAAACTTAGTCGTTCT	0.388																																																	0													56	55	55					15																	54306737		1843	4106	5949	SO:0001583	missense	0			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.1637T>G	15.37:g.54306737T>G	ENSP00000260323:p.Leu546Arg		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L546R	ENST00000260323.11	37	c.1637	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116317	0.56505	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85861	-2.04;-2.03;-2.04	5.17	5.17	0.71159	.	.	.	.	.	D	0.87406	0.6169	L	0.27053	0.805	0.54753	D	0.999981	D	0.76494	0.999	D	0.83275	0.996	D	0.89117	0.3500	9	0.87932	D	0	.	14.3313	0.66559	0.0:0.0:0.0:1.0	.	546	Q8NB66	UN13C_HUMAN	R	546	ENSP00000260323:L546R;ENSP00000438156:L546R;ENSP00000442569:L546R	ENSP00000260323:L546R	L	+	2	0	UNC13C	52094029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.522000	0.81844	2.168000	0.68352	0.533000	0.62120	CTT	UNC13C	-	NULL	ENSG00000137766		0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	38	0	T	NM_173166		54306737	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	G	G	54306737	T	G	54306737	3	3	152	1	0	0	0	0	1	0	0	0	17035	1609	56	4	1639	4	UNC13C	15	54306737	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	20226162	54306737	48224655	268	38873											
MYO1E	4643	genome.wustl.edu	37	chr15	59506906	59506906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcatggtctttctccatgGctttattgatggactagaga	8	16	9	8	0	3	2	1	1	2	1	4	4	3	3	1	3	0	1	1	3	2	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:59506906G>T	ENST00000288235.4	-	11	1520	c.1121C>A	c.(1120-1122)gCc>gAc	p.A374D	AC092756.1_ENST00000401164.1_RNA|RNU4-80P_ENST00000363200.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	374	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|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)		TTTCTCCATGGCTTTATTGAT	0.423																																																	0													178	167	170					15																	59506906		2190	4290	6480	SO:0001583	missense	0			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.1121C>A	15.37:g.59506906G>T	ENSP00000288235:p.Ala374Asp		Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.A374D	ENST00000288235.4	37	c.1121	CCDS32254.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.144844	0.94603	.	.	ENSG00000157483	ENST00000288235	D	0.88431	-2.38	5.66	5.66	0.87406	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95680	0.8595	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95726	0.8770	10	0.87932	D	0	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	374	Q12965	MYO1E_HUMAN	D	374	ENSP00000288235:A374D	ENSP00000288235:A374D	A	-	2	0	MYO1E	57294198	1.000000	0.71417	0.985000	0.45067	0.959000	0.62525	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	GCC	MYO1E	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000157483		0.423	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	HGNC	protein_coding	OTTHUMT00000416024.1	-	0	55	0	G	NM_004998		59506906	-1	tier1	-	no_errors	ENST00000288235	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	59506906	G	T	59506906	3	4	152	1	0	0	0	0	1	0	0	0	10110	1203	42	3	2277	3	MYO1E	15	59506906	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	5200169	59506906	43024486	269	38874											
MAN2C1	4123	genome.wustl.edu	37	chr15	75651747	75651747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacaggagcatagcccatGctgggcactgtcaccagggc	10	5	14	12	0	1	0	1	0	0	0	1	2	1	2	2	4	4	3	2	4	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:75651747G>T	ENST00000267978.5	-	17	2014	c.1968C>A	c.(1966-1968)agC>agA	p.S656R	MAN2C1_ENST00000565683.1_Missense_Mutation_p.H661N|MAN2C1_ENST00000569482.1_Missense_Mutation_p.S656R|MAN2C1_ENST00000563622.1_Missense_Mutation_p.S557R	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	656					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CATAGCCCATGCTGGGCACTG	0.637																																																	0													25	27	26					15																	75651747		2197	4293	6490	SO:0001583	missense	0			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.1968C>A	15.37:g.75651747G>T	ENSP00000267978:p.Ser656Arg		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.S656R	ENST00000267978.5	37	c.1968	CCDS32298.1	15	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669297	0.29604	.	.	ENSG00000140400	ENST00000267978	T	0.79247	-1.25	4.95	2.63	0.31362	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.085474	0.85682	D	0.000000	D	0.85898	0.5804	M	0.91140	3.18	0.51767	D	0.999936	P;P	0.44734	0.842;0.842	P;P	0.57371	0.819;0.819	D	0.83712	0.0188	10	0.19590	T	0.45	-17.1544	9.0418	0.36322	0.2458:0.0:0.7542:0.0	.	656;656	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	R	656	ENSP00000267978:S656R	ENSP00000267978:S656R	S	-	3	2	MAN2C1	73438800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.313000	0.33585	1.199000	0.43173	0.561000	0.74099	AGC	MAN2C1	-	pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom	ENSG00000140400		0.637	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	-	0	74	0	G			75651747	-1	tier1	-	no_errors	ENST00000267978	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	75651747	G	T	75651747	3	4	152	1	0	0	0	0	1	0	0	0	9256	1310	46	3	1194	3	MAN2C1	15	75651747	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	16144841	75651747	26879645	270	38875											
RASGRF1	5923	genome.wustl.edu	37	chr15	79317718	79317718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcagatgcttagaaaacaGgaagcactgtcgctcgccct	13	8	9	11	2	1	2	1	0	0	2	3	3	1	3	1	1	3	3	1	1	5	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:79317718G>T	ENST00000419573.3	-	10	1754	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.L494M	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	494	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTAGAAAACAGGAAGCACTGT	0.567																																																	0													79	78	78					15																	79317718		2196	4293	6489	SO:0001583	missense	0			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.1480C>A	15.37:g.79317718G>T	ENSP00000405963:p.Leu494Met		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L494M	ENST00000419573.3	37	c.1480	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625032	0.66901	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.70516	-0.49	4.36	2.41	0.29592	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000005	T	0.78654	0.4317	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.70016	0.964;0.927;0.927;0.967	T	0.77975	-0.2385	10	0.87932	D	0	.	6.4749	0.22031	0.307:0.0:0.6929:0.0	.	494;494;494;494	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	M	494	ENSP00000405963:L494M	ENSP00000378224:L494M	L	-	1	2	RASGRF1	77104773	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.872000	0.56085	1.031000	0.39867	0.585000	0.79938	CTG	RASGRF1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000058335		0.567	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0	78	0	G	NM_002891		79317718	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	79317718	G	T	79317718	3	4	152	1	0	0	0	0	1	0	0	0	13117	991	35	3	2417	3	RASGRF1	15	79317718	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	3665971	79317718	23213674	271	38876											
KIAA1024	23251	genome.wustl.edu	37	chr15	79749614	79749614	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagcctaaacacagaggaAgttcctgactttgaacggtc	12	9	11	9	1	0	3	0	2	0	1	2	5	1	5	2	3	3	1	2	3	4	3	rs370387568		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:79749614A>C	ENST00000305428.3	+	2	1200	c.1125A>C	c.(1123-1125)gaA>gaC	p.E375D		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	375						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACACAGAGGAAGTTCCTGACT	0.542																																																	0													59	66	64					15																	79749614		2196	4293	6489	SO:0001583	missense	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1125A>C	15.37:g.79749614A>C	ENSP00000307461:p.Glu375Asp		A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.E375D	ENST00000305428.3	37	c.1125	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587294	0.66105	.	.	ENSG00000169330	ENST00000305428	T	0.36157	1.27	5.49	-3.14	0.05250	.	0.128118	0.50627	D	0.000118	T	0.41880	0.1178	M	0.67953	2.075	0.41817	D	0.990009	D	0.55172	0.97	P	0.51833	0.681	T	0.48536	-0.9027	9	.	.	.	.	13.182	0.59660	0.4034:0.0:0.5966:0.0	.	375	Q9UPX6	K1024_HUMAN	D	375	ENSP00000307461:E375D	.	E	+	3	2	KIAA1024	77536669	0.786000	0.28738	0.444000	0.26895	0.992000	0.81027	-0.108000	0.10857	-0.409000	0.07553	0.482000	0.46254	GAA	KIAA1024	-	NULL	ENSG00000169330		0.542	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	-	0	136	0	A	NM_015206		79749614	1	tier1	-	no_errors	ENST00000305428	ensembl	human	known	74_37	missense	19.40	54	13	SNP	0.985	C	C	79749614	A	C	79749614	3	2	152	1	0	0	0	0	1	0	0	0	8232	69	3	4	1127	4	KIAA1024	15	79749614	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	431896	79749614	22781778	272	38877											
FAM154B	283726	genome.wustl.edu	37	chr15	82575376	82575376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcataaattcttccgcaaGattattcctgcagtgaaggc	11	12	9	9	1	2	2	1	1	1	1	4	2	4	2	2	2	1	2	2	2	5	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:82575376G>T	ENST00000339465.5	+	3	1239	c.1170G>T	c.(1168-1170)aaG>aaT	p.K390N	FAM154B_ENST00000427381.2_Missense_Mutation_p.K375N|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	390										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TCTTCCGCAAGATTATTCCTG	0.383																																																	0													42	43	43					15																	82575376		2200	4296	6496	SO:0001583	missense	0			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.1170G>T	15.37:g.82575376G>T	ENSP00000340445:p.Lys390Asn		B4E2M2	Missense_Mutation	SNP	NULL	p.K390N	ENST00000339465.5	37	c.1170	CCDS32310.1	15	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957067	0.34565	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.18502	2.44;2.21	3.84	2.9	0.33743	.	0.155049	0.39834	N	0.001241	T	0.29556	0.0737	M	0.67953	2.075	0.38155	D	0.938862	D;D	0.71674	0.998;0.988	P;P	0.57425	0.82;0.601	T	0.12477	-1.0546	10	0.52906	T	0.07	-3.0349	8.9049	0.35517	0.1813:0.0:0.8187:0.0	.	375;390	B4E2M2;Q658L1	.;F154B_HUMAN	N	390;375	ENSP00000340445:K390N;ENSP00000403743:K375N	ENSP00000340445:K390N	K	+	3	2	FAM154B	80362431	0.833000	0.29383	0.376000	0.26042	0.213000	0.24496	2.491000	0.45303	1.878000	0.54408	0.398000	0.26397	AAG	FAM154B	-	NULL	ENSG00000188659		0.383	FAM154B-001	KNOWN	basic|CCDS	protein_coding	FAM154B	HGNC	protein_coding	OTTHUMT00000419644.1	-	0	93	0	G	NM_001008226		82575376	1	tier1	-	no_errors	ENST00000339465	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.855	T	T	82575376	G	T	82575376	3	4	152	1	0	0	0	0	1	0	0	0	5483	933	33	3	1180	3	FAM154B	15	82575376	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	2825762	82575376	19956016	273	38878											
ACAN	176	genome.wustl.edu	37	chr15	89400488	89400488	+	Missense_Mutation	SNP	T	T	G	0	1	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	gaggagaaggtctagagaccTctgcttctgaagtagggact	11	9	14	7	0	3	3	0	1	3	2	3	7	3	4	1	3	1	2	1	3	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:89400488T>G	ENST00000561243.1	+	11	4672	c.4672T>G	c.(4672-4674)Tct>Gct	p.S1558A	ACAN_ENST00000559004.1_Missense_Mutation_p.S1558A|ACAN_ENST00000439576.2_Missense_Mutation_p.S1558A|ACAN_ENST00000352105.7_Missense_Mutation_p.S1558A			P16112	PGCA_HUMAN	aggrecan	1590	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)			TCTAGAGACCTCTGCTTCTGA	0.542																																																	0													47	49	48					15																	89400488		1847	4094	5941	SO:0001583	missense	0			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.4672T>G	15.37:g.89400488T>G	ENSP00000453342:p.Ser1558Ala		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.S1558A	ENST00000561243.1	37	c.4672	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	T	6.263	0.416621	0.11870	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.96104	-3.91;-3.91	4.19	3.05	0.35203	.	0.270296	0.19955	N	0.102330	D	0.93154	0.7820	L	0.40543	1.245	0.09310	N	1	P;P	0.46395	0.877;0.792	P;P	0.49799	0.622;0.622	D	0.85918	0.1444	10	0.30078	T	0.28	-7.4298	8.5955	0.33712	0.3244:0.0:0.0:0.6756	.	1558;1558	E7ENV9;E7EX88	.;.	A	1558;1558;1444	ENSP00000387356:S1558A;ENSP00000341615:S1558A	ENSP00000268134:S1444A	S	+	1	0	ACAN	87201492	0.002000	0.14202	0.034000	0.17996	0.615000	0.37417	0.619000	0.24388	0.917000	0.36895	0.533000	0.62120	TCT	ACAN	-	NULL	ENSG00000157766		0.542	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2		0	85	0	T	NM_001135		89400488	1			no_errors	ENST00000439576	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.043	G	G	89400488	T	G	89400488	3	3	152	1	0	0	0	0	1	0	0	0	117	1551	54	4	4714	4	ACAN	15	89400488	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	6825112	89400488	13130904	274	38879											
C15orf32	145858	genome.wustl.edu	37	chr15	93015606	93015606	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttacagatcaaacaaccaAgtttatcagaaattaaagac	19	11	4	7	0	2	3	2	0	0	3	2	3	2	3	1	0	3	1	1	0	8	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr15:93015606A>G	ENST00000333334.2	+	1	723	c.228A>G	c.(226-228)caA>caG	p.Q76Q	RP11-763K15.1_ENST00000554440.1_lincRNA|C15orf32_ENST00000556865.1_Silent_p.Q76Q	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	76										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			caaacaaccaagtttatcaga	0.453																																																	0													70	69	69					15																	93015606		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.228A>G	15.37:g.93015606A>G			C5HTZ8|Q96M45	Silent	SNP	NULL	p.Q76	ENST00000333334.2	37	c.228	CCDS10373.1	15																																																																																			C15orf32	-	NULL	ENSG00000183643		0.453	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C15orf32	HGNC	protein_coding	OTTHUMT00000313527.2	-	0	97	0	A	NM_153040		93015606	1	tier1	-	no_errors	ENST00000333334	ensembl	human	known	74_37	silent	25.35	53	18	SNP	0.921	G	G	93015606	A	G	93015606	2	3	152	1	0	0	0	0	0	0	0	1	1795	69	3	4		4	C15orf32	15	93015606	Silent	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	3615118	93015606	9515786	275	38880											
C16orf62	57020	genome.wustl.edu	37	chr16	19640046	19640046	+	Missense_Mutation	SNP	A	A	G	1	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	agattctcaacgaagcttggAaagtcatcactaagctgaag	15	9	9	8	1	3	2	3	1	1	1	4	4	3	3	0	1	3	2	0	1	5	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr16:19640046A>G	ENST00000251143.5	+	17	1483	c.1471A>G	c.(1471-1473)Aaa>Gaa	p.K491E	C16orf62_ENST00000438132.3_Missense_Mutation_p.K580E|C16orf62_ENST00000417362.2_Missense_Mutation_p.K424E|C16orf62_ENST00000448695.1_Missense_Mutation_p.K341E|C16orf62_ENST00000542263.1_Missense_Mutation_p.K513E|C16orf62_ENST00000543152.1_Missense_Mutation_p.K240E			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	491						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						CGAAGCTTGGAAAGTCATCAC	0.358																																																	0													113	106	108					16																	19640046		2197	4300	6497	SO:0001583	missense	0				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.1471A>G	16.37:g.19640046A>G	ENSP00000251143:p.Lys491Glu		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	NULL	p.K580E	ENST00000251143.5	37	c.1738		16	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471590	0.84533	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	L	0.58510	1.815	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	T	0.67818	-0.5572	9	.	.	.	-19.8885	16.1219	0.81365	1.0:0.0:0.0:0.0	.	513;491	F5H7K1;Q7Z3J2	.;CP062_HUMAN	E	580;513;491;424;341	ENSP00000400815:K580E;ENSP00000442468:K513E;ENSP00000251143:K491E;ENSP00000395973:K424E;ENSP00000398009:K341E	.	K	+	1	0	C16orf62	19547547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.455000	0.90355	2.285000	0.76669	0.533000	0.62120	AAA	C16orf62	-	NULL	ENSG00000103544		0.358	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	HGNC	protein_coding		-	0	86	0	A	NM_020314		19640046	1	tier1	-	no_errors	ENST00000438132	ensembl	human	known	74_37	missense	24.42	64	21	SNP	1.000	G	G	19640046	A	G	19640046	3	3	152	1	0	0	0	0	1	0	0	0	1830	247	9	4	1537	4	C16orf62	16	19640046	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09		19640046	70714707	276	38881											
ACSM5	54988	genome.wustl.edu	37	chr16	20448662	20448662	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggagtcggctgtggtCagcagcccagaccccatcag	7	7	13	14	1	2	1	2	0	0	1	4	2	3	2	4	3	2	2	4	3	0	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr16:20448662C>A	ENST00000331849.4	+	12	1656	c.1509C>A	c.(1507-1509)gtC>gtA	p.V503V	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	503					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						CGGCTGTGGTCAGCAGCCCAG	0.567																																																	0													51	51	51					16																	20448662		2203	4298	6501	SO:0001819	synonymous_variant	0				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.1509C>A	16.37:g.20448662C>A			Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.V503	ENST00000331849.4	37	c.1509	CCDS10585.1	16																																																																																			ACSM5	-	NULL	ENSG00000183549		0.567	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1		0	92	0	C	NM_017888		20448662	1			no_errors	ENST00000331849	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	A	A	20448662	C	A	20448662	2	1	152	1	0	0	0	0	0	0	0	1	187	813	29	3		3	ACSM5	16	20448662	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	808616	20448662	69906091	277	38882											
PRKCB	5579	genome.wustl.edu	37	chr16	23847616	23847616	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagaaccacaaattcacCgcccgcttcttcaagcagcc	12	7	6	16	2	4	1	3	0	1	1	4	1	4	1	4	0	3	2	4	0	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr16:23847616C>T	ENST00000321728.7	+	1	295	c.120C>T	c.(118-120)acC>acT	p.T40T	PRKCB_ENST00000303531.7_Silent_p.T40T|PRKCB_ENST00000498058.1_Silent_p.T40T	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	40					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)	ACAAATTCACCGCCCGCTTCT	0.687																																																	0													96	85	89					16																	23847616		2197	4300	6497	SO:0001819	synonymous_variant	0			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.120C>T	16.37:g.23847616C>T			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.T40	ENST00000321728.7	37	c.120	CCDS10618.1	16																																																																																			PRKCB	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd	ENSG00000166501		0.687	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	-	0	47	0	C	NM_212535		23847616	1	tier1	-	no_errors	ENST00000303531	ensembl	human	known	74_37	silent	15.79	32	6	SNP	1.000	T	T	23847616	C	T	23847616	2	4	152	1	0	0	0	0	0	0	0	1	12550	639	23	1		1	PRKCB	16	23847616	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	3398954	23847616	66507137	278	38883											
GTF3C1	2975	genome.wustl.edu	37	chr16	27495595	27495595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttcgtccaacggaatgaGatgttttatccaaagactct	11	13	7	10	2	2	2	0	1	2	2	5	4	4	3	2	1	1	1	2	1	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr16:27495595G>A	ENST00000356183.4	-	25	3953	c.3938C>T	c.(3937-3939)tCt>tTt	p.S1313F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S1313F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1313					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						AACGGAATGAGATGTTTTATC	0.498																																																	0													138	127	131					16																	27495595		2197	4300	6497	SO:0001583	missense	0			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.3938C>T	16.37:g.27495595G>A	ENSP00000348510:p.Ser1313Phe		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.S1313F	ENST00000356183.4	37	c.3938	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713850	0.89112	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.34275	1.37	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65637	0.2710	M	0.80847	2.515	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.67776	-0.5583	10	0.87932	D	0	-19.7417	19.9089	0.97019	0.0:0.0:1.0:0.0	.	1313;1313	Q12789;Q12789-3	TF3C1_HUMAN;.	F	1313;1309	ENSP00000348510:S1313F	ENSP00000348510:S1313F	S	-	2	0	GTF3C1	27403096	1.000000	0.71417	0.599000	0.28851	0.948000	0.59901	9.035000	0.93752	2.793000	0.96121	0.655000	0.94253	TCT	GTF3C1	-	NULL	ENSG00000077235		0.498	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	-	0	104	0	G	NM_001520		27495595	-1	tier1	-	no_errors	ENST00000356183	ensembl	human	known	74_37	missense	29.67	64	27	SNP	0.995	A	A	27495595	G	A	27495595	3	1	152	1	0	0	0	0	1	0	0	0	6899	942	33	3	2443	3	GTF3C1	16	27495595	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	3647979	27495595	62859158	279	38884											
SULT1A1	6817	genome.wustl.edu	37	chr16	28620135	28620135	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagcgggacccccttcacGtactccagtggcgggcggga	7	6	15	13	4	1	1	1	1	0	0	2	3	2	3	3	4	2	1	3	4	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr16:28620135G>A	ENST00000395607.1	-	2	315	c.42C>T	c.(40-42)taC>taT	p.Y14Y	SULT1A1_ENST00000395609.1_Silent_p.Y14Y|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.Y14Y|SULT1A1_ENST00000314752.7_Silent_p.Y14Y	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	14					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	CCCCCTTCACGTACTCCAGTG	0.627																																																	0													41	42	42					16																	28620135		2196	4294	6490	SO:0001819	synonymous_variant	0			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.42C>T	16.37:g.28620135G>A			Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	NULL	p.R62C	ENST00000395607.1	37	c.184	CCDS32420.1	16																																																																																			SULT1A1	-	NULL	ENSG00000196502		0.627	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A1	HGNC	protein_coding	OTTHUMT00000254694.2	-	0	175	0	G	NM_001055		28620135	-1	tier1	-	no_errors	ENST00000563493	ensembl	human	known	74_37	missense	15.43	137	25	SNP	0.008	A	A	28620135	G	A	28620135	2	1	152	1	0	0	0	0	0	0	0	1	15419	1140	40	1		1	SULT1A1	16	28620135	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	1124540	28620135	61734618	280	38885											
TBX6	6911	genome.wustl.edu	37	chr16	30100078	30100078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaagcggaaggaggccatgCccccccagtgctggctgcag	8	4	16	13	1	0	0	0	0	0	0	0	3	0	3	4	5	4	3	4	5	2	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr16:30100078C>T	ENST00000395224.2	-	5	763	c.704G>A	c.(703-705)gGc>gAc	p.G235D	TBX6_ENST00000553607.1_Missense_Mutation_p.G235D|TBX6_ENST00000279386.2_Missense_Mutation_p.G235D	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	235					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						GGAGGCCATGCCCCCCCAGTG	0.627																																																	0													108	114	112					16																	30100078		2197	4300	6497	SO:0001583	missense	0			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.704G>A	16.37:g.30100078C>T	ENSP00000378650:p.Gly235Asp		Q8TAS4|Q9HA44	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.G235D	ENST00000395224.2	37	c.704	CCDS10670.1	16	.	.	.	.	.	.	.	.	.	.	C	15.80	2.938892	0.52972	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.89415	-2.51;-2.51;-2.51	5.95	5.95	0.96441	p53-like transcription factor, DNA-binding (1);	0.059990	0.64402	D	0.000002	D	0.89329	0.6684	N	0.19112	0.55	0.49687	D	0.999816	D;D	0.69078	0.997;0.994	D;P	0.65233	0.933;0.878	D	0.86117	0.1566	10	0.18710	T	0.47	.	19.1503	0.93485	0.0:1.0:0.0:0.0	.	235;235	O95947;Q9HA44	TBX6_HUMAN;.	D	235	ENSP00000378650:G235D;ENSP00000279386:G235D;ENSP00000461223:G235D	ENSP00000279386:G235D	G	-	2	0	TBX6	30007579	0.352000	0.24895	0.992000	0.48379	0.579000	0.36224	1.369000	0.34227	2.826000	0.97356	0.563000	0.77884	GGC	TBX6	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000149922		0.627	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX6	HGNC	protein_coding	OTTHUMT00000255157.2		0	44	0	C	NM_004608, NM_080758		30100078	-1			no_errors	ENST00000279386	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.996	T	T	30100078	C	T	30100078	3	4	152	1	0	0	0	0	1	0	0	0	15709	739	26	3	626	3	TBX6	16	30100078	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	1479943	30100078	60254675	281	38886											
C16orf78	123970	genome.wustl.edu	37	chr16	49407922	49407922	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacatgtggaagactgctgaAgataggcgcatgtctgacct	11	10	12	8	1	1	4	0	2	1	2	1	5	1	5	1	2	2	2	1	2	4	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr16:49407922A>G	ENST00000299191.3	+	1	189	c.72A>G	c.(70-72)gaA>gaG	p.E24E		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	24						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGACTGCTGAAGATAGGCGCA	0.517																																																	0													151	131	138					16																	49407922		2199	4300	6499	SO:0001819	synonymous_variant	0			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.72A>G	16.37:g.49407922A>G				Silent	SNP	NULL	p.E24	ENST00000299191.3	37	c.72	CCDS10738.1	16																																																																																			C16orf78	-	NULL	ENSG00000166152		0.517	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf78	HGNC	protein_coding	OTTHUMT00000256846.1	-	0	134	0	A	NM_144602		49407922	1	tier1	-	no_errors	ENST00000299191	ensembl	human	known	74_37	silent	27.35	85	32	SNP	0.994	G	G	49407922	A	G	49407922	2	3	152	1	0	0	0	0	0	0	0	1	1840	69	3	4		4	C16orf78	16	49407922	Silent	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	19307844	49407922	40946831	282	38887											
NOD2	64127	genome.wustl.edu	37	chr16	50744810	50744811	+	Missense_Mutation	DNP	CC	CC	AT																															aggaatttctctttgtcttcCcattcagctgccggcagctg																										TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr16:50744810_50744811CC>AT	ENST00000300589.2	+	4	1093_1094	c.988_989CC>AT	c.(988-990)CCa>ATa	p.P330I	RP11-327F22.6_ENST00000602304.1_RNA|NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	330	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTTTGTCTTCCCATTCAGCTGC	0.579																																																	0																																										SO:0001583	missense	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	Exception_encountered	16.37:g.50744810_50744811delinsAT	ENSP00000300589:p.Pro330Ile		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.P330T|p.P330L	ENST00000300589.2	37	c.988|c.989	CCDS10746.1	16																																																																																			NOD2	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000167207		0.579	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	-	0	21|22	0	C	NM_022162		50744810|50744811	1	tier1	-	no_errors	ENST00000300589	ensembl	human	known	74_37	missense	44.00	14	11	SNP	1.000|0.999	A|T	AT	50744811	CC	AT	50744810	3	1	152	1	0	0	0	0	1	0	0	0	10556	623	22	3	1002	3	NOD2	16	50744810	Missense_Mutation	DNP	CC	TCGA-RE-A7BO-01A-11D-A33E-09	1336888	50744810	39609943	283	38888											
ZFHX3	463	genome.wustl.edu	37	chr16	72830565	72830565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggaaagtaattctgatGaacgtgctcttgatgactct	13	12	10	6	1	3	4	0	4	3	0	3	6	3	5	0	1	2	2	0	1	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr16:72830565G>T	ENST00000268489.5	-	9	6688	c.6016C>A	c.(6016-6018)Cat>Aat	p.H2006N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.H1092N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2006					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)				TAATTCTGATGAACGTGCTCT	0.478																																																	0													102	103	102					16																	72830565		2198	4300	6498	SO:0001583	missense	0			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.6016C>A	16.37:g.72830565G>T	ENSP00000268489:p.His2006Asn		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.H2006N	ENST00000268489.5	37	c.6016	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372913	0.42105	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.41758	0.99;1.59	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.51477	D	0.000089	T	0.64527	0.2606	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.64980	-0.6279	10	0.72032	D	0.01	.	19.9449	0.97179	0.0:0.0:1.0:0.0	.	2006	Q15911	ZFHX3_HUMAN	N	2006;1092	ENSP00000268489:H2006N;ENSP00000438926:H1092N	ENSP00000268489:H2006N	H	-	1	0	ZFHX3	71388066	1.000000	0.71417	0.993000	0.49108	0.702000	0.40608	9.793000	0.99091	2.696000	0.92011	0.655000	0.94253	CAT	ZFHX3	-	superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000140836		0.478	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0	102	0	G	NM_006885		72830565	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	72830565	G	T	72830565	3	4	152	1	0	0	0	0	1	0	0	0	17682	1290	45	3	5103	3	ZFHX3	16	72830565	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	22085755	72830565	17524188	284	38889											
BCMO1	53630	genome.wustl.edu	37	chr16	81303800	81303800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcgaccaaaggaccaggcagCctgtgcagaccaagttttac	12	7	10	12	1	0	1	0	0	0	1	1	3	0	2	4	2	3	3	4	2	3	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr16:81303800C>A	ENST00000258168.2	+	7	1341	c.880C>A	c.(880-882)Cct>Act	p.P294T	BCMO1_ENST00000425577.2_Missense_Mutation_p.P225T	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GACCAGGCAGCCTGTGCAGAC	0.527																																																	0													172	145	154					16																	81303800		2202	4300	6502	SO:0001583	missense	0																														ENST00000258168.2:c.880C>A	16.37:g.81303800C>A	ENSP00000258168:p.Pro294Thr			Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.P294T	ENST00000258168.2	37	c.880	CCDS10934.1	16	.	.	.	.	.	.	.	.	.	.	C	4.222	0.040124	0.08148	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.94576	-3.46;-3.46	5.62	2.39	0.29439	.	0.392722	0.25839	N	0.027971	D	0.87148	0.6105	L	0.39245	1.2	0.21147	N	0.999775	B;B	0.25772	0.134;0.08	B;B	0.25759	0.063;0.063	T	0.70532	-0.4846	10	0.09590	T	0.72	-17.398	3.4874	0.07625	0.1247:0.5511:0.1596:0.1646	.	225;294	E7EM88;Q9HAY6	.;BCDO1_HUMAN	T	294;225	ENSP00000258168:P294T;ENSP00000400586:P225T	ENSP00000258168:P294T	P	+	1	0	BCMO1	79861301	0.500000	0.26091	0.677000	0.29947	0.222000	0.24845	0.999000	0.29757	1.381000	0.46364	0.650000	0.86243	CCT	BCMO1	-	pfam_Carotenoid_Oase	ENSG00000135697		0.527	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	HGNC	protein_coding	OTTHUMT00000269056.1		0	82	0	C			81303800	1			no_errors	ENST00000258168	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.470	A	A	81303800	C	A	81303800	3	1	152	1	0	0	0	0	1	0	0	0	1385	739	26	3	906	3	BCMO1	16	81303800	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	8473235	81303800	9050953	285	38890											
WFDC1	58189	genome.wustl.edu	37	chr16	84353120	84353120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacatcctgagcccaggtGacgtggccgaaggtatcccc	8	6	12	15	2	0	2	0	2	0	0	2	3	2	2	6	3	1	1	6	3	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr16:84353120G>A	ENST00000219454.5	+	4	831	c.505G>A	c.(505-507)Gac>Aac	p.D169N	WFDC1_ENST00000568638.1_Missense_Mutation_p.D169N	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	169					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GAGCCCAGGTGACGTGGCCGA	0.667																																																	0													86	67	73					16																	84353120		2200	4300	6500	SO:0001583	missense	0			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.505G>A	16.37:g.84353120G>A	ENSP00000219454:p.Asp169Asn		D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core	p.D169N	ENST00000219454.5	37	c.505	CCDS10946.1	16	.	.	.	.	.	.	.	.	.	.	G	5.127	0.209095	0.09757	.	.	ENSG00000103175	ENST00000219454	T	0.30182	1.54	4.43	3.4	0.38934	.	0.053246	0.64402	D	0.000001	T	0.11281	0.0275	N	0.11201	0.11	0.39290	D	0.964726	B	0.32467	0.372	B	0.25614	0.062	T	0.12734	-1.0536	10	0.17832	T	0.49	-42.2978	4.3686	0.11237	0.2887:0.0:0.7113:0.0	.	169	Q9HC57	WFDC1_HUMAN	N	169	ENSP00000219454:D169N	ENSP00000219454:D169N	D	+	1	0	WFDC1	82910621	0.998000	0.40836	0.030000	0.17652	0.212000	0.24457	3.578000	0.53892	2.295000	0.77249	0.555000	0.69702	GAC	WFDC1	-	NULL	ENSG00000103175		0.667	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC1	HGNC	protein_coding	OTTHUMT00000269083.2	-	0	73	0	G			84353120	1	tier1	-	no_errors	ENST00000219454	ensembl	human	known	74_37	missense	18.60	35	8	SNP	0.827	A	A	84353120	G	A	84353120	3	1	152	1	0	0	0	0	1	0	0	0	17395	1290	45	3	519	3	WFDC1	16	84353120	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	3049320	84353120	6001633	286	38891											
ANKRD11	29123	genome.wustl.edu	37	chr16	89357110	89357110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcgtccccgcggatggcgGctcggtgcaggcgggtctct	2	7	19	13	6	1	0	0	0	1	0	4	1	2	1	2	7	1	2	2	7	0	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr16:89357110G>T	ENST00000301030.4	-	6	984	c.524C>A	c.(523-525)gCc>gAc	p.A175D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A175D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	175					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)		GCGGATGGCGGCTCGGTGCAG	0.597																																																	0													61	64	63					16																	89357110		2198	4298	6496	SO:0001583	missense	0			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.524C>A	16.37:g.89357110G>T	ENSP00000301030:p.Ala175Asp		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A175D	ENST00000301030.4	37	c.524	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.771207	0.96922	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.81415	-1.49;-1.49	5.45	5.45	0.79879	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.95326	0.8425	10	0.87932	D	0	.	19.6454	0.95775	0.0:0.0:1.0:0.0	.	175;189;175	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	D	175;175;189	ENSP00000301030:A175D;ENSP00000367581:A175D	ENSP00000301030:A175D	A	-	2	0	ANKRD11	87884611	1.000000	0.71417	0.212000	0.23672	0.977000	0.68977	9.675000	0.98638	2.714000	0.92807	0.561000	0.74099	GCC	ANKRD11	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000167522		0.597	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	-	0	56	0	G	NM_013275		89357110	-1	tier1	-	no_errors	ENST00000301030	ensembl	human	known	74_37	missense	12.77	41	6	SNP	1.000	T	T	89357110	G	T	89357110	3	4	152	1	0	0	0	0	1	0	0	0	639	1203	42	3	7499	3	ANKRD11	16	89357110	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	5003990	89357110	997643	287	38892											
TRPV3	162514	genome.wustl.edu	37	chr17	3436156	3436156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccgcgaggtgatgtccGtctgctcgtgctccatcagc	5	10	12	14	4	2	1	1	1	1	0	6	2	5	1	3	1	3	2	3	1	0	0	rs200272068		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:3436156G>A	ENST00000576742.1	-	8	1181	c.860C>T	c.(859-861)aCg>aTg	p.T287M	TRPV3_ENST00000301365.4_Missense_Mutation_p.T287M|TRPV3_ENST00000572519.1_Missense_Mutation_p.T287M	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	287					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.T287K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGTGATGTCCGTCTGCTCGTG	0.607																																																	1	Substitution - Missense(1)	lung(1)											178	124	142					17																	3436156		2203	4300	6503	SO:0001583	missense	0			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.860C>T	17.37:g.3436156G>A	ENSP00000461518:p.Thr287Met		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel	p.T287M	ENST00000576742.1	37	c.860	CCDS11029.1	17	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441095	0.63067	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.53423	0.62	5.05	5.05	0.67936	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000001	T	0.62097	0.2400	L	0.44542	1.39	0.51767	D	0.999935	D;D;D;D;D;D;D	0.89917	0.987;0.994;1.0;0.994;1.0;1.0;1.0	P;P;D;P;D;D;D	0.69824	0.707;0.806;0.95;0.871;0.966;0.95;0.917	T	0.65125	-0.6244	10	0.87932	D	0	-10.7238	17.7676	0.88483	0.0:0.0:1.0:0.0	.	271;271;287;271;287;287;287	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	M	287;287;271	ENSP00000301365:T287M	ENSP00000301365:T287M	T	-	2	0	TRPV3	3382906	1.000000	0.71417	0.996000	0.52242	0.004000	0.04260	9.330000	0.96422	2.501000	0.84356	0.561000	0.74099	ACG	TRPV3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel	ENSG00000167723		0.607	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPV3	HGNC	protein_coding	OTTHUMT00000207379.2	-	0	37	0	G	NM_145068		3436156	-1	tier1	rs200272068	no_errors	ENST00000301365	ensembl	human	known	74_37	missense	44.00	14	11	SNP	0.998	A	A	3436156	G	A	3436156	3	1	152	1	0	0	0	0	1	0	0	0	16645	1145	40	1	1556	1	TRPV3	17	3436156	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09		3436156	77759054	288	38893											
C17orf85	55421	genome.wustl.edu	37	chr17	3716411	3716411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggtaagttatctaacCggctcttcttttggcgagac	9	13	11	8	2	3	2	0	0	3	2	3	4	3	2	1	3	1	3	1	3	3	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:3716411C>T	ENST00000389005.4	-	13	1817	c.1790G>A	c.(1789-1791)cGg>cAg	p.R597Q	C17orf85_ENST00000158149.3_Missense_Mutation_p.R317Q	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	597							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GTTATCTAACCGGCTCTTCTT	0.562																																																	0													117	119	118					17																	3716411		2203	4300	6503	SO:0001583	missense	0				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1790G>A	17.37:g.3716411C>T	ENSP00000373657:p.Arg597Gln		B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	pfam_DUF2414	p.R597Q	ENST00000389005.4	37	c.1790	CCDS45578.1	17	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997731	0.93227	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68652	-0.5352	9	0.87932	D	0	-9.6678	18.0364	0.89305	0.0:1.0:0.0:0.0	.	597	Q53F19	CQ085_HUMAN	Q	597;317	.	ENSP00000158149:R317Q	R	-	2	0	C17orf85	3663160	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.993000	0.76245	2.941000	0.99782	0.655000	0.94253	CGG	C17orf85	-	NULL	ENSG00000074356		0.562	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf85	HGNC	protein_coding	OTTHUMT00000438385.1	-	0	62	0	C	NM_018553		3716411	-1	tier1	-	no_errors	ENST00000389005	ensembl	human	known	74_37	missense	50.00	22	22	SNP	1.000	T	T	3716411	C	T	3716411	3	4	152	1	0	0	0	0	1	0	0	0	1894	652	23	1	76	1	C17orf85	17	3716411	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	280255	3716411	77478799	289	38894											
DHX33	56919	genome.wustl.edu	37	chr17	5352186	5352186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctaccagcgtcatattcttGctgttgacaaaattctcttt	9	16	6	10	1	3	1	1	1	2	0	4	1	3	1	1	0	3	3	1	0	4	7			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:5352186G>T	ENST00000225296.3	-	11	1958	c.1758C>A	c.(1756-1758)agC>agA	p.S586R	DHX33_ENST00000433302.3_Missense_Mutation_p.S362R	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	586					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						TCATATTCTTGCTGTTGACAA	0.448																																																	0													141	116	125					17																	5352186		2203	4300	6503	SO:0001583	missense	0			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.1758C>A	17.37:g.5352186G>T	ENSP00000225296:p.Ser586Arg		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S586R	ENST00000225296.3	37	c.1758	CCDS11072.1	17	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072548	0.36566	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.03301	3.98;3.98	5.18	4.21	0.49690	.	0.080268	0.85682	D	0.000000	T	0.07908	0.0198	M	0.79258	2.445	0.54753	D	0.999981	P;B	0.49559	0.925;0.024	P;B	0.46172	0.506;0.025	T	0.27400	-1.0075	10	0.27785	T	0.31	.	9.1356	0.36872	0.1632:0.0:0.8368:0.0	.	362;586	Q05BE5;Q9H6R0	.;DHX33_HUMAN	R	586;362	ENSP00000225296:S586R;ENSP00000413779:S362R	ENSP00000225296:S586R	S	-	3	2	DHX33	5292910	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.117000	0.71577	1.430000	0.47334	0.563000	0.77884	AGC	DHX33	-	superfamily_P-loop_NTPase	ENSG00000005100		0.448	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX33	HGNC	protein_coding	OTTHUMT00000219826.2	-	0	41	0	G	NM_020162		5352186	-1	tier1	-	no_errors	ENST00000225296	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	5352186	G	T	5352186	3	4	152	1	0	0	0	0	1	0	0	0	4520	1310	46	3	373	3	DHX33	17	5352186	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	1635775	5352186	75843024	290	38895											
KIAA0753	9851	genome.wustl.edu	37	chr17	6502559	6502559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atatcacacaacgcatacctCctgtgcaggctgggctttcg	9	10	9	13	2	1	0	1	0	0	0	3	0	2	0	2	2	3	4	2	2	3	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:6502559C>G	ENST00000361413.3	-	14	2528	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.E425Q|KIAA0753_ENST00000589033.1_Missense_Mutation_p.E180Q|KIAA0753_ENST00000572370.1_Missense_Mutation_p.E425Q|RNA5SP435_ENST00000364044.1_RNA	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	724						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ACGCATACCTCCTGTGCAGGC	0.353																																																	0													96	95	95					17																	6502559		1996	4166	6162	SO:0001583	missense	0				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.2170G>C	17.37:g.6502559C>G	ENSP00000355250:p.Glu724Gln		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	NULL	p.E724Q	ENST00000361413.3	37	c.2170	CCDS42247.1	17	.	.	.	.	.	.	.	.	.	.	C	9.662	1.144329	0.21205	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	T;T	0.09723	3.12;2.95	4.98	-0.834	0.10779	.	0.589501	0.17570	N	0.169514	T	0.04770	0.0129	N	0.14661	0.345	0.18873	N	0.999988	B	0.15930	0.015	B	0.16289	0.015	T	0.39396	-0.9616	10	0.23891	T	0.37	-6.8114	5.1078	0.14793	0.0:0.3058:0.3877:0.3066	.	724	Q2KHM9	K0753_HUMAN	Q	724;425;180	ENSP00000355250:E724Q;ENSP00000444634:E425Q	ENSP00000355250:E724Q	E	-	1	0	KIAA0753	6443283	0.675000	0.27558	0.252000	0.24328	0.177000	0.22998	0.320000	0.19540	0.089000	0.17243	0.563000	0.77884	GAG	KIAA0753	-	NULL	ENSG00000198920		0.353	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3	-	0	77	0	C	NM_014804		6502559	-1	tier1	-	no_errors	ENST00000361413	ensembl	human	known	74_37	missense	25.76	49	17	SNP	0.106	G	G	6502559	C	G	6502559	3	3	152	1	0	0	0	0	1	0	0	0	8218	864	30	5	757	5	KIAA0753	17	6502559	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	1150373	6502559	74692651	291	38896											
KSR1	8844	genome.wustl.edu	37	chr17	25904621	25904621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggggatgagtgtggccGtctgcagtatgccctcacct	6	9	14	12	2	2	1	1	1	1	0	2	2	2	2	3	3	3	2	3	3	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:25904621G>T	ENST00000319524.6	+	3	476	c.476G>T	c.(475-477)cGt>cTt	p.R159L	KSR1_ENST00000509603.2_Missense_Mutation_p.R159L|KSR1_ENST00000268763.6_Missense_Mutation_p.R22L|KSR1_ENST00000398988.3_Missense_Mutation_p.R22L			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	159					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)		GAGTGTGGCCGTCTGCAGTAT	0.672																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												0													35	47	43					17																	25904621		2135	4221	6356	SO:0001583	missense	0			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.476G>T	17.37:g.25904621G>T	ENSP00000323178:p.Arg159Leu		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R159L	ENST00000319524.6	37	c.476		17	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550775	0.86127	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982;ENST00000398985	T;T;T;T	0.35048	7.37;7.37;7.37;1.33	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.80332	2.49	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69610	-0.5099	10	0.87932	D	0	.	17.3403	0.87293	0.0:0.0:1.0:0.0	.	157;40	Q8IVT5;Q6ZNT2	KSR1_HUMAN;.	L	159;159;22;22;40	ENSP00000323178:R159L;ENSP00000438795:R159L;ENSP00000268763:R22L;ENSP00000381952:R22L	ENSP00000268763:R22L	R	+	2	0	KSR1	22928748	1.000000	0.71417	0.922000	0.36590	0.454000	0.32378	8.883000	0.92426	2.397000	0.81536	0.591000	0.81541	CGT	KSR1	-	NULL	ENSG00000141068		0.672	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding			0	39	0	G	NM_014238		25904621	1			no_errors	ENST00000319524	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.985	T	T	25904621	G	T	25904621	3	4	152	1	0	0	0	0	1	0	0	0	8609	1145	40	2	67	2	KSR1	17	25904621	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	19402062	25904621	55290589	292	38897											
SUZ12	23512	genome.wustl.edu	37	chr17	30320963	30320963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgtactctgaactgccGcaaactttatagtttactca	10	15	7	9	1	2	1	1	1	1	0	2	1	2	1	1	1	5	3	1	1	6	7	rs371166327		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:30320963G>A	ENST00000322652.5	+	12	1602	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H	SUZ12_ENST00000580398.1_Missense_Mutation_p.R435H	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	458					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R458H(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTGAACTGCCGCAAACTTTAT	0.323			T	JAZF1	endometrial stromal tumours								.|||	0	0	0	0	5008	,	,		14901	0		0	False		,,,				2504	0							Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	1	Substitution - Missense(1)	lung(1)											99	93	95					17																	30320963		2203	4300	6503	SO:0001583	missense	0			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1373G>A	17.37:g.30320963G>A	ENSP00000316578:p.Arg458His		Q96BD9	Missense_Mutation	SNP	pfam_Polycomb_protein_VEFS-Box	p.R458H	ENST00000322652.5	37	c.1373	CCDS11270.1	17	.	.	.	.	.	.	.	.	.	.	g	13.88	2.369628	0.42003	.	.	ENSG00000178691	ENST00000322652	T	0.46063	0.88	5.38	2.24	0.28232	Zinc finger, C2H2-like (1);	0.097634	0.64402	D	0.000001	T	0.38904	0.1058	L	0.47716	1.5	0.42572	D	0.993189	D;B	0.61697	0.99;0.002	P;B	0.48270	0.572;0.001	T	0.16364	-1.0405	10	0.41790	T	0.15	-0.247	9.0131	0.36153	0.1357:0.121:0.7433:0.0	.	458;458	A8K1U9;Q15022	.;SUZ12_HUMAN	H	458	ENSP00000316578:R458H	ENSP00000316578:R458H	R	+	2	0	SUZ12	27345076	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.764000	0.98949	0.651000	0.30788	0.644000	0.83932	CGC	SUZ12	-	NULL	ENSG00000178691		0.323	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	HGNC	protein_coding	OTTHUMT00000256260.2		0	72	0	G	NM_015355		30320963	1			no_errors	ENST00000322652	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	A	A	30320963	G	A	30320963	3	1	152	1	0	0	0	0	1	0	0	0	15463	1087	38	1	1419	1	SUZ12	17	30320963	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	4416342	30320963	50874247	293	38898											
THRA	7067	genome.wustl.edu	37	chr17	38244559	38244559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggagatcatgtccctgcgggCggctgtccgctacgaccctg	5	8	14	14	4	1	1	1	0	0	1	3	3	3	1	3	3	2	2	3	3	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:38244559C>T	ENST00000264637.4	+	8	1368	c.788C>T	c.(787-789)gCg>gTg	p.A263V	THRA_ENST00000450525.2_Missense_Mutation_p.A263V|THRA_ENST00000584985.1_Missense_Mutation_p.A263V|THRA_ENST00000546243.1_Missense_Mutation_p.A263V|THRA_ENST00000394121.4_Missense_Mutation_p.A263V	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	263	Ligand-binding.				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)	TCCCTGCGGGCGGCTGTCCGC	0.632																																																	0													92	79	84					17																	38244559		2203	4300	6503	SO:0001583	missense	0			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.788C>T	17.37:g.38244559C>T	ENSP00000264637:p.Ala263Val		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A263V	ENST00000264637.4	37	c.788	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	c	26.8	4.775220	0.90108	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95878	0.8658	L	0.45470	1.425	0.80722	D	1	D;D;D	0.65815	0.973;0.979;0.995	B;P;B	0.51866	0.424;0.682;0.358	D	0.95642	0.8699	10	0.45353	T	0.12	.	17.0857	0.86611	0.0:1.0:0.0:0.0	.	263;263;263	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	V	263	ENSP00000377679:A263V;ENSP00000264637:A263V;ENSP00000395641:A263V;ENSP00000443972:A263V	ENSP00000264637:A263V	A	+	2	0	THRA	35498085	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.733000	0.84916	2.304000	0.77564	0.486000	0.48141	GCG	THRA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ThyrH_rcpt	ENSG00000126351		0.632	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2		0	56	0	C			38244559	1			no_errors	ENST00000264637	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	38244559	C	T	38244559	3	4	152	1	0	0	0	0	1	0	0	0	15920	768	27	1	814	1	THRA	17	38244559	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	7923596	38244559	42950651	294	38899											
UBTF	7343	genome.wustl.edu	37	chr17	42288694	42288694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccacctcgtaatctttCtttttctgggaaagtgagtg	8	15	9	9	1	3	1	0	1	3	0	5	2	4	2	2	1	1	2	2	1	2	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:42288694C>A	ENST00000302904.4	-	11	1545	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	UBTF_ENST00000529383.1_Missense_Mutation_p.K351N|UBTF_ENST00000343638.5_Missense_Mutation_p.K314N|UBTF_ENST00000393606.3_Missense_Mutation_p.K314N|UBTF_ENST00000436088.1_Missense_Mutation_p.K351N|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.K314N|UBTF_ENST00000527034.1_Missense_Mutation_p.K314N|UBTF_ENST00000533177.1_Missense_Mutation_p.K314N			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	351					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)	p.K351N(1)		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)		CGTAATCTTTCTTTTTCTGGG	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)											70	62	64					17																	42288694		2203	4300	6503	SO:0001583	missense	0			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.1053G>T	17.37:g.42288694C>A	ENSP00000302640:p.Lys351Asn		A8K6R8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	p.K351N	ENST00000302904.4	37	c.1053	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	c	20.8	4.051183	0.75960	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	4.34	3.36	0.38483	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	M	0.70842	2.15	0.48762	D	0.999705	D;P;D	0.89917	1.0;0.589;1.0	D;B;D	0.87578	0.998;0.437;0.997	T	0.39761	-0.9598	10	0.45353	T	0.12	-30.0218	11.7069	0.51601	0.0:0.9064:0.0:0.0936	.	314;314;351	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	N	314;351;314;314;351;314;314;351	ENSP00000345297:K314N;ENSP00000302640:K351N;ENSP00000431539:K314N;ENSP00000437180:K314N;ENSP00000390669:K351N;ENSP00000377231:K314N;ENSP00000432925:K314N;ENSP00000435708:K351N	ENSP00000302640:K351N	K	-	3	2	UBTF	39644220	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.517000	0.53443	2.408000	0.81797	0.491000	0.48974	AAG	UBTF	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000108312		0.577	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1		0	65	0	C	NM_014233		42288694	-1			no_errors	ENST00000302904	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	A	A	42288694	C	A	42288694	3	1	152	1	0	0	0	0	1	0	0	0	16958	912	32	3	1285	3	UBTF	17	42288694	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	4044135	42288694	38906516	295	38900											
CACNA1G	8913	genome.wustl.edu	37	chr17	48649985	48649985	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccccttcatctgctccCagccacgcgagaacggcatg	9	6	10	16	3	2	2	1	0	1	2	3	3	3	2	4	1	4	2	4	1	1	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:48649985C>G	ENST00000359106.5	+	6	817	c.817C>G	c.(817-819)Cag>Gag	p.Q273E	CACNA1G_ENST00000512389.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Q273E|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.Q273E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Q273E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Q273E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Q273E|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Q273E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Q273E|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Q273E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Q273E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Q273E	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	273					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)	CATCTGCTCCCAGCCACGCGA	0.652																																																	0													19	21	20					17																	48649985		2070	4202	6272	SO:0001583	missense	0			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.817C>G	17.37:g.48649985C>G	ENSP00000352011:p.Gln273Glu		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.Q273E	ENST00000359106.5	37	c.817	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	5.328	0.245840	0.10077	.	.	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	0.96716	-3.96;-3.96;-4.1;-3.91;-3.96;-3.96;-3.98;-4.05;-4.02;-4.03;-4.04;-3.92;-3.93;-3.99;-3.94;-3.9;-3.98;-3.94;-3.92;-3.98;-3.96;-3.93;-3.98;-3.92;-3.97;-3.98	5.36	5.36	0.76844	Ion transport (1);	0.000000	0.40064	N	0.001194	D	0.96411	0.8829	L	0.41415	1.275	0.47476	D	0.999434	P;B;D;D;P;P;P;B;P;B;B;B;B;B;D;B;D;P;B;B;P;B;B;B;D;D	0.61080	0.946;0.099;0.981;0.957;0.516;0.785;0.956;0.22;0.956;0.099;0.34;0.081;0.099;0.211;0.975;0.096;0.989;0.907;0.333;0.099;0.92;0.182;0.117;0.025;0.959;0.987	D;B;D;P;B;P;D;B;D;B;B;B;B;B;D;B;P;P;B;B;D;B;B;B;P;P	0.69479	0.945;0.058;0.928;0.888;0.267;0.567;0.964;0.196;0.964;0.058;0.156;0.051;0.085;0.147;0.964;0.147;0.869;0.648;0.267;0.085;0.924;0.147;0.096;0.066;0.76;0.793	D	0.93735	0.7045	10	0.07325	T	0.83	.	19.1516	0.93491	0.0:1.0:0.0:0.0	.	273;273;273;273;273;273;273;273;273;273;273;273;273;273;273;273;273;273;273;273;273;273;273;273;273;273	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	E	273	ENSP00000353990:Q273E;ENSP00000339302:Q273E;ENSP00000392390:Q273E;ENSP00000347078:Q273E;ENSP00000409759:Q273E;ENSP00000425522:Q273E;ENSP00000426261:Q273E;ENSP00000425451:Q273E;ENSP00000422407:Q273E;ENSP00000426814:Q273E;ENSP00000427238:Q273E;ENSP00000423112:Q273E;ENSP00000420918:Q273E;ENSP00000426172:Q273E;ENSP00000423045:Q273E;ENSP00000427173:Q273E;ENSP00000426098:Q273E;ENSP00000425698:Q273E;ENSP00000426232:Q273E;ENSP00000423317:Q273E;ENSP00000350979:Q273E;ENSP00000352011:Q273E;ENSP00000414388:Q273E;ENSP00000423155:Q273E;ENSP00000422268:Q273E;ENSP00000421518:Q273E	ENSP00000339302:Q273E	Q	+	1	0	CACNA1G	46004984	0.990000	0.36364	1.000000	0.80357	0.984000	0.73092	2.871000	0.48459	2.541000	0.85698	0.505000	0.49811	CAG	CACNA1G	-	pfam_Ion_trans_dom	ENSG00000006283		0.652	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	-	0	51	0	C	NM_018896		48649985	1	tier1	-	no_errors	ENST00000359106	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	G	G	48649985	C	G	48649985	3	3	152	1	0	0	0	0	1	0	0	0	2551	595	21	5	839	5	CACNA1G	17	48649985	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	6361291	48649985	32545225	296	38901											
CACNA1G	8913	genome.wustl.edu	37	chr17	48678463	48678463	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaagatgttcgaccacgtGgtccttgtcatcatcttcct	8	13	7	13	2	3	1	2	0	1	1	6	2	5	1	3	1	0	1	3	1	1	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:48678463G>T	ENST00000359106.5	+	19	3843	c.3843G>T	c.(3841-3843)gtG>gtT	p.V1281V	CACNA1G_ENST00000512389.1_Silent_p.V1281V|CACNA1G_ENST00000505165.1_Silent_p.V1281V|CACNA1G_ENST00000513689.2_Silent_p.V1281V|CACNA1G_ENST00000513964.1_Silent_p.V1281V|CACNA1G_ENST00000507896.1_Silent_p.V1281V|CACNA1G_ENST00000502264.1_Silent_p.V1258V|CACNA1G_ENST00000514717.1_Silent_p.V1258V|CACNA1G_ENST00000416767.4_Silent_p.V1281V|CACNA1G_ENST00000354983.4_Silent_p.V1258V|CACNA1G_ENST00000515165.1_Silent_p.V1281V|CACNA1G_ENST00000507510.2_Silent_p.V1281V|CACNA1G_ENST00000515411.1_Silent_p.V1281V|CACNA1G_ENST00000358244.5_Silent_p.V1258V|CACNA1G_ENST00000507336.1_Silent_p.V1281V|CACNA1G_ENST00000510115.1_Silent_p.V1258V|CACNA1G_ENST00000507609.1_Silent_p.V1281V|CACNA1G_ENST00000514079.1_Silent_p.V1281V|CACNA1G_ENST00000442258.2_Silent_p.V1258V|CACNA1G_ENST00000360761.4_Silent_p.V1258V|CACNA1G_ENST00000503485.1_Silent_p.V1281V|CACNA1G_ENST00000352832.5_Silent_p.V1258V|CACNA1G_ENST00000515765.1_Silent_p.V1281V|CACNA1G_ENST00000510366.1_Silent_p.V1281V|CACNA1G_ENST00000514181.1_Silent_p.V1281V|CACNA1G_ENST00000429973.2_Silent_p.V1281V	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1281					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)	TCGACCACGTGGTCCTTGTCA	0.612																																																	0													125	124	124					17																	48678463		2152	4242	6394	SO:0001819	synonymous_variant	0			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.3843G>T	17.37:g.48678463G>T			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.V1281	ENST00000359106.5	37	c.3843	CCDS45730.1	17																																																																																			CACNA1G	-	NULL	ENSG00000006283		0.612	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	-	0	66	0	G	NM_018896		48678463	1	tier1	-	no_errors	ENST00000359106	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	T	T	48678463	G	T	48678463	2	4	152	1	0	0	0	0	0	0	0	1	2551	1335	47	3		3	CACNA1G	17	48678463	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	28478	48678463	32516747	297	38902											
TEX14	56155	genome.wustl.edu	37	chr17	56661931	56661931	+	Missense_Mutation	SNP	T	T	G	0	1	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	cttcactatgctctggttgcTccttttgtctgggagatggg	4	16	12	9	0	3	1	1	0	2	1	4	2	4	1	1	3	2	3	1	3	1	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:56661931T>G	ENST00000240361.8	-	19	3204	c.3119A>C	c.(3118-3120)gAg>gCg	p.E1040A	TEX14_ENST00000389934.3_Missense_Mutation_p.E1034A|TEX14_ENST00000349033.5_Missense_Mutation_p.E1034A			Q8IWB6	TEX14_HUMAN	testis expressed 14	1040					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)					CTCTGGTTGCTCCTTTTGTCT	0.438																																																	0													204	171	182					17																	56661931		2203	4300	6503	SO:0001583	missense	0			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.3119A>C	17.37:g.56661931T>G	ENSP00000240361:p.Glu1040Ala		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.E1040A	ENST00000240361.8	37	c.3119	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	T	10.80	1.453198	0.26161	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;D	0.82433	-1.61;-1.61;-1.57	4.62	3.53	0.40419	.	0.491185	0.20149	N	0.098212	D	0.85204	0.5643	M	0.62723	1.935	0.09310	N	1	B;D;B	0.56746	0.143;0.977;0.223	B;P;B	0.55871	0.041;0.786;0.09	T	0.76356	-0.2989	10	0.72032	D	0.01	-0.4761	7.7478	0.28879	0.1864:0.0:0.0:0.8136	.	1040;1034;1034	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	A	1040;1034;1034	ENSP00000240361:E1040A;ENSP00000374584:E1034A;ENSP00000268910:E1034A	ENSP00000240361:E1040A	E	-	2	0	TEX14	54016930	0.038000	0.19896	0.003000	0.11579	0.029000	0.11900	2.181000	0.42547	0.712000	0.32039	0.374000	0.22700	GAG	TEX14	-	NULL	ENSG00000121101		0.438	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1		0	32	0	T			56661931	-1			no_errors	ENST00000240361	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.006	G	G	56661931	T	G	56661931	3	3	152	1	0	0	0	0	1	0	0	0	15825	1551	54	4	1434	4	TEX14	17	56661931	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	7983468	56661931	24533279	298	38903											
CD300LF	146722	genome.wustl.edu	37	chr17	72700795	72700795	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcctgctctgacccactGgttttaacaaggatcttgca	9	12	7	13	0	2	1	0	1	2	0	3	2	3	2	3	2	3	3	3	2	2	3	rs144991054		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:72700795G>A	ENST00000326165.6	-	2	315	c.204C>T	c.(202-204)acC>acT	p.T68T	CD300LF_ENST00000464910.1_Silent_p.T71T|CD300LF_ENST00000301573.9_Silent_p.T68T|CD300LF_ENST00000343125.4_Silent_p.T71T|CD300LF_ENST00000469092.1_Silent_p.T71T|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000581500.1_Silent_p.T71T|CD300LF_ENST00000361254.4_Silent_p.T71T|CD300LF_ENST00000583937.1_Silent_p.T68T	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	68	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CTGACCCACTGGTTTTAACAA	0.512																																																	0								G	,	0,4406		0,0,2203	250	228	236		204,	4.5	0.5	17	dbSNP_134	236	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	CD300LF,RAB37	NM_139018.3,NM_175738.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	68/291,	72700795	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"Immunoglobulin superfamily / V-set domain containing"	29883	protein-coding gene	gene with protein product		609807	"CD300 antigen like family member F"			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.204C>T	17.37:g.72700795G>A			B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.T68	ENST00000326165.6	37	c.204	CCDS11704.1	17																																																																																			CD300LF	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000186074		0.512	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD300LF	HGNC	protein_coding	OTTHUMT00000145085.1	-	0	101	0	G	NM_139018		72700795	-1	tier1	rs144991054	no_errors	ENST00000326165	ensembl	human	known	74_37	silent	43.75	54	42	SNP	0.814	A	A	72700795	G	A	72700795	2	1	152	1	0	0	0	0	0	0	0	1	3008	1335	47	3		3	CD300LF	17	72700795	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	16038864	72700795	8494415	299	38904											
RECQL5	9400	genome.wustl.edu	37	chr17	73625473	73625473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggcttgctccctgatcCgagttgtctccatcagttcc	4	12	12	13	1	2	1	1	1	1	0	6	2	5	1	4	3	1	4	4	3	0	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:73625473C>T	ENST00000317905.5	-	16	2189	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.R650Q	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	677	Interaction with RAD51.				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)			CTCCCTGATCCGAGTTGTCTC	0.657								Other identified genes with known or suspected DNA repair function																																									0													21	23	22					17																	73625473		1883	4082	5965	SO:0001583	missense	0			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.2030G>A	17.37:g.73625473C>T	ENSP00000317636:p.Arg677Gln		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.R677Q	ENST00000317905.5	37	c.2030	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356507	0.24598	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.48522	0.81	4.96	-9.91	0.00458	RecQ helicase-like 5 (2);	2.612280	0.00775	N	0.001237	T	0.17492	0.0420	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19224	-1.0312	10	0.11182	T	0.66	2.9789	2.9236	0.05777	0.2354:0.0828:0.1675:0.5143	.	677;650	O94762;Q6P4G0	RECQ5_HUMAN;.	Q	272;677;677	ENSP00000317636:R677Q	ENSP00000317636:R677Q	R	-	2	0	RECQL5	71137068	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.856000	0.00729	-3.175000	0.00224	-1.036000	0.02392	CGG	RECQL5	-	pfam_RecQ_helicase-like_5	ENSG00000108469		0.657	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	-	0	14	0	C	NM_004259		73625473	-1	tier1	-	no_errors	ENST00000317905	ensembl	human	known	74_37	missense	61.11	7	11	SNP	0.000	T	T	73625473	C	T	73625473	3	4	152	1	0	0	0	0	1	0	0	0	13248	652	23	1	965	1	RECQL5	17	73625473	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	924678	73625473	7569737	300	38905											
RNF213	57674	genome.wustl.edu	37	chr17	78341825	78341825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccgtctgtctgccctgcGaccacgtgcactgcctgcgc	4	8	10	19	4	2	0	0	0	2	0	2	1	2	0	5	0	5	1	5	0	0	0	rs397514563		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr17:78341825G>A	ENST00000582970.1	+	44	12180	c.12037G>A	c.(12037-12039)Gac>Aac	p.D4013N	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.D4062N|RNF213_ENST00000336301.6_Missense_Mutation_p.D2086N|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4013			D -> N (variant detected in cases of Moyamoya disease in Caucasian populations). {ECO:0000269|PubMed:21799892}.		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)			TCTGCCCTGCGACCACGTGCA	0.562																																																	0													149	143	145					17																	78341825		2203	4300	6503	SO:0001583	missense	0			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.12037G>A	17.37:g.78341825G>A	ENSP00000464087:p.Asp4013Asn		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.D4013N	ENST00000582970.1	37	c.12037	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052252	0.55218	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T;T	0.25912	1.77;2.33	4.67	4.67	0.58626	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.413735	0.26503	N	0.024003	T	0.21227	0.0511	L	0.31664	0.95	0.30154	N	0.802756	D;P	0.56287	0.975;0.473	P;B	0.45753	0.492;0.095	T	0.06463	-1.0825	10	0.45353	T	0.12	.	9.8622	0.41120	0.102:0.0:0.898:0.0	.	4062;2086	C9JCP4;Q63HN8	.;RN213_HUMAN	N	4013;4062;2086	ENSP00000425956:D4013N;ENSP00000338218:D2086N	ENSP00000338218:D2086N	D	+	1	0	RNF213	75956420	1.000000	0.71417	0.955000	0.39395	0.690000	0.40134	3.227000	0.51262	2.419000	0.82065	0.655000	0.94253	GAC	RNF213	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000173821		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0	37	0	G	NM_020914		78341825	1	tier1	-	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	A	A	78341825	G	A	78341825	3	1	152	1	0	0	0	0	1	0	0	0	13522	1058	37	1	12526	1	RNF213	17	78341825	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	4716352	78341825	2853385	301	38906											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14757822	14757822	+	Missense_Mutation	SNP	T	T	G	0	1	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	ttgttattttagcacagcccTcatgcttgccatatgtgaag	9	15	8	9	0	1	1	1	1	0	0	1	1	1	1	2	0	4	3	2	0	4	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr18:14757822T>G	ENST00000358984.4	+	5	806	c.626T>G	c.(625-627)cTc>cGc	p.L209R	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.L209R|RNU6-1210P_ENST00000363775.1_RNA|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	209										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGCACAGCCCTCATGCTTGCC	0.368																																																	0													77	60	65					18																	14757822		692	1591	2283	SO:0001583	missense	0			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.626T>G	18.37:g.14757822T>G	ENSP00000351875:p.Leu209Arg		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L209R	ENST00000358984.4	37	c.626	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	4.722	0.134343	0.09032	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.80304	-1.36;-1.36	0.971	0.971	0.19698	.	.	.	.	.	D	0.91626	0.7354	H	0.98629	4.285	0.09310	N	1	D	0.69078	0.997	D	0.72982	0.979	T	0.79727	-0.1682	9	0.66056	D	0.02	.	4.171	0.10329	0.0:0.0:0.0:1.0	.	209	F8WAG3	.	R	209	ENSP00000351875:L209R;ENSP00000399031:L209R	ENSP00000351875:L209R	L	+	2	0	ANKRD30B	14747822	0.271000	0.24162	0.094000	0.20943	0.052000	0.14988	1.242000	0.32755	0.701000	0.31803	0.255000	0.18592	CTC	ANKRD30B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000180777		0.368	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	101	0	T	NM_001145029		14757822	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	missense	31.15	42	19	SNP	0.105	G	G	14757822	T	G	14757822	3	3	152	1	0	0	0	0	1	0	0	0	659	1551	54	4	644	4	ANKRD30B	18	14757822	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09		14757822	63319426	302	38907											
ZNF521	25925	genome.wustl.edu	37	chr18	22806995	22806995	+	Missense_Mutation	SNP	A	A	G	1	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	cctgctccatgtggttcatgAgggaggtctcctctacgaag	7	11	12	11	1	3	1	1	1	2	0	5	3	4	2	3	3	2	2	3	3	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr18:22806995A>G	ENST00000361524.3	-	4	1035	c.887T>C	c.(886-888)cTc>cCc	p.L296P	ZNF521_ENST00000538137.2_Missense_Mutation_p.L296P|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.L76P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	296					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)					GTGGTTCATGAGGGAGGTCTC	0.537			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													104	100	102					18																	22806995		2203	4300	6503	SO:0001583	missense	0			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.887T>C	18.37:g.22806995A>G	ENSP00000354794:p.Leu296Pro		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L296P	ENST00000361524.3	37	c.887	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	A	10.38	1.335358	0.24253	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.42513	0.97;0.97	6.02	6.02	0.97574	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	0.74906	0.3778	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82559	-0.0397	10	0.87932	D	0	-23.9073	16.5446	0.84426	1.0:0.0:0.0:0.0	.	296	Q96K83	ZN521_HUMAN	P	296;330;296	ENSP00000354794:L296P;ENSP00000382352:L296P	ENSP00000354794:L296P	L	-	2	0	ZNF521	21060993	1.000000	0.71417	0.884000	0.34674	0.997000	0.91878	8.962000	0.93254	2.311000	0.77944	0.533000	0.62120	CTC	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.537	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	100	0	A	NM_015461		22806995	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	40.62	38	26	SNP	0.996	G	G	22806995	A	G	22806995	3	3	152	1	0	0	0	0	1	0	0	0	18013	304	11	4	3068	4	ZNF521	18	22806995	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	8049173	22806995	55270253	303	38908											
SLC39A6	25800	genome.wustl.edu	37	chr18	33706858	33706858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatgccagattcccaattcGgactaattttctcagtggtc	10	14	7	10	1	1	1	1	0	1	1	5	2	2	2	2	2	1	0	2	2	3	6	rs369589683		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr18:33706858G>T	ENST00000590986.1	-	2	402	c.113C>A	c.(112-114)cCg>cAg	p.P38Q	SLC39A6_ENST00000440549.2_Intron|ELP2_ENST00000358232.6_5'Flank|ELP2_ENST00000351393.6_5'Flank|SLC39A6_ENST00000269187.5_Missense_Mutation_p.P38Q			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	38					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTCCCAATTCGGACTAATTTT	0.413																																																	0													106	100	102					18																	33706858		1846	4092	5938	SO:0001583	missense	0			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.113C>A	18.37:g.33706858G>T	ENSP00000465915:p.Pro38Gln		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	pfam_ZIP	p.P38Q	ENST00000590986.1	37	c.113	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552686	0.27739	.	.	ENSG00000141424	ENST00000269187	T	0.22134	1.97	5.78	3.98	0.46160	.	0.820528	0.11355	N	0.572581	T	0.16769	0.0403	L	0.39898	1.24	0.09310	N	0.999999	B	0.29716	0.255	B	0.30943	0.122	T	0.28332	-1.0047	10	0.35671	T	0.21	0.9091	4.8873	0.13710	0.0801:0.1482:0.6184:0.1533	.	38	Q13433	S39A6_HUMAN	Q	38	ENSP00000269187:P38Q	ENSP00000269187:P38Q	P	-	2	0	SLC39A6	31960856	0.027000	0.19231	0.007000	0.13788	0.833000	0.47200	0.623000	0.24447	0.773000	0.33404	0.561000	0.74099	CCG	SLC39A6	-	NULL	ENSG00000141424		0.413	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1		0	74	0	G			33706858	-1			no_errors	ENST00000269187	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.010	T	T	33706858	G	T	33706858	3	4	152	1	0	0	0	0	1	0	0	0	14667	1116	39	2	2202	2	SLC39A6	18	33706858	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	10899863	33706858	44370390	304	38909											
SETBP1	26040	genome.wustl.edu	37	chr18	42281579	42281579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagatggtttggaagagcagGaattttctatcaaggaggca	13	10	14	4	0	2	2	1	0	1	2	2	6	2	5	0	5	1	3	0	5	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr18:42281579G>C	ENST00000282030.5	+	2	564	c.268G>C	c.(268-270)Gaa>Caa	p.E90Q	SETBP1_ENST00000426838.4_Missense_Mutation_p.E90Q	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	90						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)		GGAAGAGCAGGAATTTTCTAT	0.498									Schinzel-Giedion syndrome																																								0													111	104	106					18																	42281579		2203	4300	6503	SO:0001583	missense	0	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.268G>C	18.37:g.42281579G>C	ENSP00000282030:p.Glu90Gln		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.E90Q	ENST00000282030.5	37	c.268	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964797	0.74131	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.68025	-0.3	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	L	0.31065	0.9	0.46774	D	0.999197	P;D	0.89917	0.926;1.0	P;D	0.80764	0.853;0.994	T	0.66248	-0.5971	10	0.16896	T	0.51	.	19.8326	0.96642	0.0:0.0:1.0:0.0	.	90;90	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	Q	90	ENSP00000282030:E90Q	ENSP00000282030:E90Q	E	+	1	0	SETBP1	40535577	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.810000	0.86072	2.686000	0.91538	0.591000	0.81541	GAA	SETBP1	-	NULL	ENSG00000152217		0.498	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0	55	0	G	NM_001130110		42281579	1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	C	C	42281579	G	C	42281579	3	2	152	1	0	0	0	0	1	0	0	0	14174	1175	41	5	270	5	SETBP1	18	42281579	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	8574721	42281579	35795669	305	38910											
CCDC11	220136	genome.wustl.edu	37	chr18	47788534	47788534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattatgcttctgatggctgCgtcggattctttctagatgg	6	16	11	8	2	3	2	0	1	3	1	4	3	3	3	0	3	2	2	0	3	2	5	rs373884778		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr18:47788534C>T	ENST00000398545.4	-	2	242	c.125G>A	c.(124-126)cGc>cAc	p.R42H		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CTGATGGCTGCGTCGGATTCT	0.438													C|||	1	0.000199681	0	0	5008	,	,		18855	0.001		0	False		,,,				2504	0																0													120	115	117					18																	47788534		1924	4129	6053	SO:0001583	missense	0																														ENST00000398545.4:c.125G>A	18.37:g.47788534C>T	ENSP00000381553:p.Arg42His			Missense_Mutation	SNP	NULL	p.R42H	ENST00000398545.4	37	c.125	CCDS11940.2	18	.	.	.	.	.	.	.	.	.	.	C	5.657	0.305928	0.10733	.	.	ENSG00000172361	ENST00000398545	T	0.35048	1.33	4.85	0.0608	0.14337	.	0.138507	0.22268	U	0.062301	T	0.23688	0.0573	L	0.35854	1.095	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.14952	-1.0454	10	0.45353	T	0.12	0.0534	7.1026	0.25346	0.0:0.5065:0.0:0.4935	.	42	Q96M91	CCD11_HUMAN	H	42	ENSP00000381553:R42H	ENSP00000381553:R42H	R	-	2	0	CCDC11	46042532	0.000000	0.05858	0.001000	0.08648	0.167000	0.22549	-1.265000	0.02844	0.079000	0.16929	0.563000	0.77884	CGC	CCDC11	-	NULL	ENSG00000172361		0.438	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC11	HGNC	protein_coding	OTTHUMT00000255922.3	-	0	62	0	C			47788534	-1	tier1	-	no_errors	ENST00000398545	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.000	T	T	47788534	C	T	47788534	3	4	152	1	0	0	0	0	1	0	0	0	2753	768	27	1	1447	1	CCDC11	18	47788534	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	5506955	47788534	30288714	306	38911											
PHLPP1	23239	genome.wustl.edu	37	chr18	60562282	60562282	+	Missense_Mutation	SNP	A	A	G	1	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	tcttaacctttccaataatcAtttaggggacttcccactgg	10	14	6	11	0	2	0	1	0	1	0	4	1	4	1	3	3	1	0	3	3	4	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr18:60562282A>G	ENST00000262719.5	+	5	2339	c.2105A>G	c.(2104-2106)cAt>cGt	p.H702R	PHLPP1_ENST00000400316.4_Missense_Mutation_p.H190R			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	702					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TCCAATAATCATTTAGGGGAC	0.438																																																	0													57	55	56					18																	60562282		1869	4102	5971	SO:0001583	missense	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2105A>G	18.37:g.60562282A>G	ENSP00000262719:p.His702Arg		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.H702R	ENST00000262719.5	37	c.2105	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126614	0.37533	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.22945	1.93;1.93	5.81	4.66	0.58398	.	.	.	.	.	T	0.10252	0.0251	N	0.03948	-0.315	0.38486	D	0.947848	P	0.44521	0.837	B	0.41135	0.348	T	0.16305	-1.0407	9	0.02654	T	1	-11.498	11.5355	0.50634	0.9306:0.0:0.0694:0.0	.	702	O60346	PHLP1_HUMAN	R	190;702	ENSP00000383170:H190R;ENSP00000262719:H702R	ENSP00000262719:H702R	H	+	2	0	PHLPP1	58713262	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	2.287000	0.43505	1.046000	0.40249	0.533000	0.62120	CAT	PHLPP1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000081913		0.438	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	-	0	110	0	A	NM_194449		60562282	1	tier1	-	no_errors	ENST00000262719	ensembl	human	known	74_37	missense	27.66	34	13	SNP	0.997	G	G	60562282	A	G	60562282	3	3	152	1	0	0	0	0	1	0	0	0	11893	217	8	4	2123	4	PHLPP1	18	60562282	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	12773748	60562282	17514966	307	38912											
MUC16	94025	genome.wustl.edu	37	chr19	9066060	9066060	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccgggctagaggtgagaAgtgaagtcacaggaagagga	14	6	16	5	1	1	4	1	2	0	3	1	7	1	6	1	4	1	1	1	4	5	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:9066060A>C	ENST00000397910.4	-	3	21589	c.21386T>G	c.(21385-21387)cTt>cGt	p.L7129R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7131	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						AGAGGTGAGAAGTGAAGTCAC	0.512																																																	0													202	186	191					19																	9066060		2058	4206	6264	SO:0001583	missense	0			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.21386T>G	19.37:g.9066060A>C	ENSP00000381008:p.Leu7129Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L7129R	ENST00000397910.4	37	c.21386	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	3.614	-0.078957	0.07141	.	.	ENSG00000181143	ENST00000397910	T	0.24908	1.83	2.53	0.073	0.14389	.	.	.	.	.	T	0.18635	0.0447	L	0.42245	1.32	.	.	.	B	0.22541	0.071	B	0.23574	0.047	T	0.28235	-1.0050	8	0.87932	D	0	.	2.707	0.05165	0.5517:0.269:0.1793:0.0	.	7129	B5ME49	.	R	7129	ENSP00000381008:L7129R	ENSP00000381008:L7129R	L	-	2	0	MUC16	8927060	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.733000	0.00803	-0.048000	0.13401	0.329000	0.21502	CTT	MUC16	-	NULL	ENSG00000181143		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	108	0	A	NM_024690		9066060	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	15.31	83	15	SNP	0.000	C	C	9066060	A	C	9066060	3	2	152	1	0	0	0	0	1	0	0	0	10011	72	3	4	22465	4	MUC16	19	9066060	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09		9066060	50062923	308	38913			1	42		4	4	6915	N	T_C_A	8.355238e-05
MUC16	94025	genome.wustl.edu	37	chr19	9068876	9068876	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgtttctgaatctacaaaAtcctgagttctggctgatgg	9	15	10	7	0	3	3	0	3	3	0	4	3	4	3	1	2	1	4	1	2	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:9068876A>C	ENST00000397910.4	-	3	18773	c.18570T>G	c.(18568-18570)gaT>gaG	p.D6190E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6192	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						AATCTACAAAATCCTGAGTTC	0.473																																																	0													89	93	92					19																	9068876		2078	4220	6298	SO:0001583	missense	0			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.18570T>G	19.37:g.9068876A>C	ENSP00000381008:p.Asp6190Glu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.D6190E	ENST00000397910.4	37	c.18570	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	1.510	-0.549786	0.03996	.	.	ENSG00000181143	ENST00000397910	T	0.20332	2.08	1.05	-2.1	0.07210	.	.	.	.	.	T	0.06371	0.0164	N	0.03608	-0.345	.	.	.	P	0.34977	0.478	B	0.25987	0.065	T	0.19647	-1.0299	8	0.87932	D	0	.	2.2392	0.04016	0.3906:0.0:0.3632:0.2461	.	6190	B5ME49	.	E	6190	ENSP00000381008:D6190E	ENSP00000381008:D6190E	D	-	3	2	MUC16	8929876	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.500000	0.06405	-1.487000	0.01849	-1.014000	0.02459	GAT	MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	151	0	A	NM_024690		9068876	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	15.62	108	20	SNP	0.000	C	C	9068876	A	C	9068876	3	2	152	1	0	0	0	0	1	0	0	0	10011	98	4	4	25281	4	MUC16	19	9068876	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	2816	9068876	50060107	309	38914			1	42		4	4	6915	N	T_C_A	8.355238e-05
MUC16	94025	genome.wustl.edu	37	chr19	9070065	9070065	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctggtctctgtcacagtgTtgatctcctcagacgtcctg	5	14	10	12	1	4	2	2	1	2	1	7	2	5	2	2	1	1	2	2	1	0	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:9070065T>G	ENST00000397910.4	-	3	17584	c.17381A>C	c.(17380-17382)aAc>aCc	p.N5794T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5796	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						TGTCACAGTGTTGATCTCCTC	0.463																																																	0													159	152	154					19																	9070065		1988	4169	6157	SO:0001583	missense	0			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.17381A>C	19.37:g.9070065T>G	ENSP00000381008:p.Asn5794Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.N5794T	ENST00000397910.4	37	c.17381	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	1.793	-0.478987	0.04414	.	.	ENSG00000181143	ENST00000397910	T	0.02498	4.27	1.68	0.596	0.17496	.	.	.	.	.	T	0.01835	0.0058	N	0.14661	0.345	.	.	.	B	0.24426	0.103	B	0.17722	0.019	T	0.40175	-0.9577	8	0.87932	D	0	.	3.7402	0.08527	0.0:0.7386:0.0:0.2614	.	5794	B5ME49	.	T	5794	ENSP00000381008:N5794T	ENSP00000381008:N5794T	N	-	2	0	MUC16	8931065	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.287000	0.00526	0.263000	0.21812	-0.499000	0.04595	AAC	MUC16	-	NULL	ENSG00000181143		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	72	0	T	NM_024690		9070065	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	53.57	26	30	SNP	0.000	G	G	9070065	T	G	9070065	3	3	152	1	0	0	0	0	1	0	0	0	10011	1725	60	4	26470	4	MUC16	19	9070065	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	1189	9070065	50058918	310	38915			1	42		4	4	6915	N	T_C_A	8.355238e-05
MUC16	94025	genome.wustl.edu	37	chr19	9072974	9072974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtgtttatggaaggatgCgttgtctctatatctgtggt	7	17	12	5	1	2	0	0	0	2	0	3	2	2	2	0	3	1	2	0	3	4	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:9072974C>T	ENST00000397910.4	-	3	14675	c.14472G>A	c.(14470-14472)acG>acA	p.T4824T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4826	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						TGGAAGGATGCGTTGTCTCTA	0.443																																																	0													165	154	158					19																	9072974		2080	4211	6291	SO:0001819	synonymous_variant	0			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.14472G>A	19.37:g.9072974C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T4824	ENST00000397910.4	37	c.14472	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	80	0	C	NM_024690		9072974	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	20.00	63	16	SNP	0.000	T	T	9072974	C	T	9072974	2	4	152	1	0	0	0	0	0	0	0	1	10011	755	27	1		1	MUC16	19	9072974	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	2909	9072974	50056009	311	38916			1	42		4	4	6915	N	T_C_A	8.355238e-05
MUC16	94025	genome.wustl.edu	37	chr19	9089788	9089788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctcagggatgacagaaGaaaccattgtatatgatggc	14	10	11	6	0	1	4	1	2	1	2	2	5	1	5	1	2	1	1	1	2	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:9089788G>T	ENST00000397910.4	-	1	2230	c.2027C>A	c.(2026-2028)tCt>tAt	p.S676Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	676	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S676Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGACAGAAGAAACCATTGT	0.527																																																	2	Substitution - Missense(2)	large_intestine(2)											118	117	117					19																	9089788		2041	4206	6247	SO:0001583	missense	0			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.2027C>A	19.37:g.9089788G>T	ENSP00000381008:p.Ser676Tyr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S676Y	ENST00000397910.4	37	c.2027	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.258	-0.369886	0.05069	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.56	1.56	0.23342	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	.	.	.	D	0.58268	0.982	P	0.56163	0.793	T	0.43829	-0.9367	8	0.87932	D	0	.	6.5643	0.22503	0.0:0.0:1.0:0.0	.	676	B5ME49	.	Y	676	ENSP00000381008:S676Y	ENSP00000381008:S676Y	S	-	2	0	MUC16	8950788	0.010000	0.17322	0.002000	0.10522	0.019000	0.09904	2.242000	0.43106	1.175000	0.42826	0.205000	0.17691	TCT	MUC16	-	NULL	ENSG00000181143		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	41	0	G	NM_024690		9089788	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.003	T	T	9089788	G	T	9089788	3	4	152	1	0	0	0	0	1	0	0	0	10011	942	33	3	41832	3	MUC16	19	9089788	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	16814	9089788	50039195	312	38917											
C19orf66	55337	genome.wustl.edu	37	chr19	10197926	10197926	+	Splice_Site	DEL	G	G	-																															tatatgcactctcccccgcaGgggtaaagcaaaaagatggc																										TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:10197926delG	ENST00000253110.11	+	3	443		c.e3-1		CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000397881.3_Splice_Site|C19orf66_ENST00000591813.1_Splice_Site	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66											large_intestine(3)|skin(1)	4						CTCCCCCGCAGGGGTAAAGCA	0.602																																																	0													61	63	62					19																	10197926		1900	4116	6016	SO:0001630	splice_region_variant	0				CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.146-1G>-	19.37:g.10197926delG			A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Splice_Site	DEL	-	e3-1	ENST00000253110.11	37	c.146-1	CCDS45957.1	19																																																																																			C19orf66	-	-	ENSG00000130813		0.602	C19orf66-001	KNOWN	basic|CCDS	protein_coding	C19orf66	HGNC	protein_coding	OTTHUMT00000451129.1		0	90	0	G	NM_018381	Intron	10197926	1	tier1		no_errors	ENST00000253110	ensembl	human	known	74_37	splice_site_del	19.57	74	18	DEL	0.836	-	-	10197926	G	-	10197926	8	5	152	1	0	1	0	1	0	0	1	0	1953	1014	35	0	155	0	C19orf66	19	10197926	Splice_Site	DEL	G	TCGA-RE-A7BO-01A-11D-A33E-09	1108138	10197926	48931057	313	38918											
QTRT1	81890	genome.wustl.edu	37	chr19	10823829	10823829	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtccgcaccagcatcgtGgagaagcgcttcccggactt	7	7	12	15	5	0	1	0	0	0	1	3	3	2	2	4	2	2	3	4	2	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:10823829G>T	ENST00000250237.5	+	10	1105	c.1095G>T	c.(1093-1095)gtG>gtT	p.V365V		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	365					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)			CCAGCATCGTGGAGAAGCGCT	0.687																																																	0													62	60	60					19																	10823829		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1095G>T	19.37:g.10823829G>T			B4DFM7|Q96BQ4|Q9BXQ9	Silent	SNP	pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like	p.V365	ENST00000250237.5	37	c.1095	CCDS12248.1	19																																																																																			QTRT1	-	pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like	ENSG00000213339		0.687	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QTRT1	HGNC	protein_coding	OTTHUMT00000452086.1		0	28	0	G	NM_031209		10823829	1			no_errors	ENST00000250237	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.992	T	T	10823829	G	T	10823829	2	4	152	1	0	0	0	0	0	0	0	1	12930	1335	47	3		3	QTRT1	19	10823829	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	625903	10823829	48305154	314	38919											
TMEM205	374882	genome.wustl.edu	37	chr19	11456212	11456212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacctgagacgaaggtcacCcacatttgcatgccccaggc	10	7	9	15	1	1	1	1	1	0	1	1	3	1	1	4	2	3	1	4	2	2	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:11456212C>A	ENST00000354882.5	-	1	510	c.84G>T	c.(82-84)tgG>tgT	p.W28C	TMEM205_ENST00000593256.2_Missense_Mutation_p.W28C|TMEM205_ENST00000588560.1_Missense_Mutation_p.W28C|TMEM205_ENST00000589555.1_Missense_Mutation_p.W28C|CCDC159_ENST00000587100.1_Intron|CCDC159_ENST00000458408.1_5'Flank|TMEM205_ENST00000586590.1_Missense_Mutation_p.W28C|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000587948.1_Missense_Mutation_p.W28C|TMEM205_ENST00000586956.1_Missense_Mutation_p.W28C|TMEM205_ENST00000447337.1_Missense_Mutation_p.W28C|TMEM205_ENST00000586218.1_Intron|CCDC159_ENST00000588790.1_Intron			Q6UW68	TM205_HUMAN	transmembrane protein 205	28						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CGAAGGTCACCCACATTTGCA	0.567																																																	0													129	97	108					19																	11456212		2203	4300	6503	SO:0001583	missense	0			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.84G>T	19.37:g.11456212C>A	ENSP00000346954:p.Trp28Cys			Missense_Mutation	SNP	NULL	p.W28C	ENST00000354882.5	37	c.84	CCDS32909.1	19	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905718	0.92107	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	U	0.000000	D	0.85639	0.5743	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88041	0.2781	9	0.87932	D	0	-8.6736	18.6264	0.91340	0.0:1.0:0.0:0.0	.	28	Q6UW68	TM205_HUMAN	C	28	.	ENSP00000346954:W28C	W	-	3	0	TMEM205	11317212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.606000	0.74159	2.691000	0.91804	0.561000	0.74099	TGG	TMEM205	-	NULL	ENSG00000105518		0.567	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM205	HGNC	protein_coding	OTTHUMT00000458743.1		0	67	0	C	NM_198536		11456212	-1			no_errors	ENST00000354882	ensembl	human	known	74_37	missense	5.15	92	5	SNP	1.000	A	A	11456212	C	A	11456212	3	1	152	1	0	0	0	0	1	0	0	0	16177	624	22	3	497	3	TMEM205	19	11456212	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	632383	11456212	47672771	315	38920											
CD97	976	genome.wustl.edu	37	chr19	14515276	14515276	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagggcactgggccaccGagggctgccaggtgctgggc	5	4	21	11	1	0	0	0	0	0	0	0	2	0	1	3	7	2	3	3	7	0	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:14515276G>T	ENST00000242786.5	+	13	1611	c.1531G>T	c.(1531-1533)Gag>Tag	p.E511*	CD97_ENST00000357355.3_Nonsense_Mutation_p.E462*|CD97_ENST00000358600.3_Nonsense_Mutation_p.E418*|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	511	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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						CTGGGCCACCGAGGGCTGCCA	0.632																																																	0													67	66	66					19																	14515276		2203	4300	6503	SO:0001587	stop_gained	0				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.1531G>T	19.37:g.14515276G>T	ENSP00000242786:p.Glu511*		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.E511*	ENST00000242786.5	37	c.1531	CCDS32929.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152625	0.78001	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	.	.	.	4.85	-4.41	0.03590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	6.8444	0.23980	0.1948:0.0:0.548:0.2571	.	.	.	.	X	511;462;418;461	.	ENSP00000242786:E511X	E	+	1	0	CD97	14376276	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.275000	0.02817	-1.160000	0.02804	-0.367000	0.07326	GAG	CD97	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,prints_GPCR_2_EMR1_rcpt	ENSG00000123146		0.632	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2		0	41	0	G	NM_078481		14515276	1			no_errors	ENST00000242786	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.000	T	T	14515276	G	T	14515276	4	4	152	1	0	0	0	0	0	1	0	0	3056	1059	37	2	1581	2	CD97	19	14515276	Nonsense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	3059064	14515276	44613707	316	38921											
NOTCH3	4854	genome.wustl.edu	37	chr19	15288458	15288458	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcactgcagcgcctcgcaTtgccgccaggggtcgcccac	6	5	12	18	4	0	0	0	0	0	0	2	0	0	0	4	2	4	3	4	2	0	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:15288458T>G	ENST00000263388.2	-	24	4356	c.4281A>C	c.(4279-4281)caA>caC	p.Q1427H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1427					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)			GCGCCTCGCATTGCCGCCAGG	0.721																																																	0													4	5	5					19																	15288458		1997	3993	5990	SO:0001583	missense	0			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.4281A>C	19.37:g.15288458T>G	ENSP00000263388:p.Gln1427His		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.Q1427H	ENST00000263388.2	37	c.4281	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	t	19.68	3.873689	0.72180	.	.	ENSG00000074181	ENST00000263388	D	0.91631	-2.88	4.66	1.24	0.21308	Notch domain (4);	.	.	.	.	D	0.89781	0.6814	L	0.34521	1.04	0.34254	D	0.679097	D	0.58620	0.983	P	0.57425	0.82	D	0.87712	0.2567	9	0.45353	T	0.12	.	5.0285	0.14398	0.0:0.5131:0.1452:0.3417	.	1427	Q9UM47	NOTC3_HUMAN	H	1427	ENSP00000263388:Q1427H	ENSP00000263388:Q1427H	Q	-	3	2	NOTCH3	15149458	0.970000	0.33590	1.000000	0.80357	0.911000	0.54048	0.238000	0.18004	0.391000	0.25143	-0.741000	0.03529	CAA	NOTCH3	-	pirsf_Notch,pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom	ENSG00000074181		0.721	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	32	0	T	NM_000435		15288458	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.997	G	G	15288458	T	G	15288458	3	3	152	1	0	0	0	0	1	0	0	0	10589	1490	52	4	2724	4	NOTCH3	19	15288458	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	773182	15288458	43840525	317	38922											
ZNF486	90649	genome.wustl.edu	37	chr19	20278155	20278155	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagatgccgggaccccttAgaagcctagaaatggtgaga	13	6	12	10	1	0	4	0	1	0	4	0	6	0	5	5	2	2	0	5	2	5	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:20278155A>G	ENST00000335117.8	+	1	73	c.16A>G	c.(16-18)Aga>Gga	p.R6G	ZNF486_ENST00000597083.1_Missense_Mutation_p.R6G|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						GGGACCCCTTAGAAGCCTAGA	0.582																																																	0													60	64	63					19																	20278155		2201	4300	6501	SO:0001583	missense	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.16A>G	19.37:g.20278155A>G	ENSP00000335042:p.Arg6Gly		Q0VG00	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R6G	ENST00000335117.8	37	c.16	CCDS46029.1	19	.	.	.	.	.	.	.	.	.	.	-	0.011	-1.705187	0.00719	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.05319	3.46	0.461	-0.922	0.10468	Krueppel-associated box (1);	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44772	-0.9306	8	0.06625	T	0.88	.	.	.	.	.	6	Q96H40	ZN486_HUMAN	G	45;6	ENSP00000335042:R6G	ENSP00000335042:R6G	R	+	1	2	ZNF486	20139155	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	-0.448000	0.06820	-1.196000	0.02676	-0.788000	0.03338	AGA	ZNF486	-	superfamily_Krueppel-associated_box	ENSG00000256229		0.582	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	-	0	97	0	A	NM_052852		20278155	1	tier1	-	no_errors	ENST00000335117	ensembl	human	known	74_37	missense	39.25	65	42	SNP	0.001	G	G	20278155	A	G	20278155	3	3	152	1	0	0	0	0	1	0	0	0	17987	412	15	4	18	4	ZNF486	19	20278155	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	4989697	20278155	38850828	318	38923											
ZNF486	90649	genome.wustl.edu	37	chr19	20308122	20308122	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaacccatactacacataaAaaaattgatactggagagaa	20	8	5	8	0	1	2	1	1	0	1	1	4	1	3	1	1	4	0	1	1	9	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:20308122A>C	ENST00000335117.8	+	4	660	c.603A>C	c.(601-603)aaA>aaC	p.K201N	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CTACACATAAAAAAATTGATA	0.348																																																	0													34	38	37					19																	20308122		2103	4249	6352	SO:0001583	missense	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.603A>C	19.37:g.20308122A>C	ENSP00000335042:p.Lys201Asn		Q0VG00	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K201N	ENST00000335117.8	37	c.603	CCDS46029.1	19	.	.	.	.	.	.	.	.	.	.	a	9.291	1.050572	0.19827	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.18657	2.2	0.85	-1.7	0.08159	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27027	0.0662	L	0.41961	1.31	0.21445	N	0.999689	D	0.57571	0.98	P	0.62740	0.906	T	0.16958	-1.0385	9	0.66056	D	0.02	.	2.0183	0.03503	0.2882:0.0:0.2683:0.4435	.	201	Q96H40	ZN486_HUMAN	N	240;201	ENSP00000335042:K201N	ENSP00000335042:K201N	K	+	3	2	ZNF486	20169122	0.000000	0.05858	0.030000	0.17652	0.029000	0.11900	-0.275000	0.08525	-1.290000	0.02372	-1.322000	0.01289	AAA	ZNF486	-	NULL	ENSG00000256229		0.348	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	-	0	72	0	A	NM_052852		20308122	1	tier1	-	no_errors	ENST00000335117	ensembl	human	known	74_37	missense	26.74	63	23	SNP	0.655	C	C	20308122	A	C	20308122	3	2	152	1	0	0	0	0	1	0	0	0	17987	11	1	4	617	4	ZNF486	19	20308122	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	29967	20308122	38820861	319	38924											
ZNF737	100129842	genome.wustl.edu	37	chr19	20727762	20727762	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtccagtatggattatcTtatgtgtagtaagggaagag	11	13	13	4	0	1	1	0	0	1	1	2	3	2	3	1	2	0	4	1	2	6	5			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:20727762T>G	ENST00000427401.4	-	4	1341	c.1247A>C	c.(1246-1248)aAg>aCg	p.K416T		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	416					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						ATGGATTATCTTATGTGTAGT	0.403																																																	0													183	179	180					19																	20727762		692	1591	2283	SO:0001583	missense	0			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.1247A>C	19.37:g.20727762T>G	ENSP00000395733:p.Lys416Thr		C9JHM3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K416T	ENST00000427401.4	37	c.1247	CCDS54238.1	19	.	.	.	.	.	.	.	.	.	.	N	6.511	0.462461	0.12342	.	.	ENSG00000237440	ENST00000427401	T	0.17854	2.25	0.801	0.801	0.18679	.	.	.	.	.	T	0.21509	0.0518	L	0.28192	0.835	0.09310	N	0.999999	D	0.67145	0.996	D	0.70227	0.968	T	0.12372	-1.0550	9	0.87932	D	0	.	2.8131	0.05447	0.4122:0.0:0.0:0.5878	.	416	C9JHM3	.	T	416	ENSP00000395733:K416T	ENSP00000395733:K416T	K	-	2	0	ZNF737	20519602	0.000000	0.05858	0.241000	0.24154	0.241000	0.25554	-0.167000	0.09940	0.147000	0.19030	0.145000	0.16022	AAG	ZNF737	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000237440		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	-	0	46	0	T	NM_145289		20727762	-1	tier1	-	no_errors	ENST00000427401	ensembl	human	known	74_37	missense	19.72	57	14	SNP	0.530	G	G	20727762	T	G	20727762	3	3	152	1	0	0	0	0	1	0	0	0	18174	1609	56	4	367	4	ZNF737	19	20727762	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	419640	20727762	38401221	320	38925											
ZNF208	7757	genome.wustl.edu	37	chr19	22155029	22155029	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctccagcatgagttttcTtatgtttactaaagactgac	10	16	6	9	0	2	3	0	2	2	1	4	3	3	3	1	0	2	3	1	0	4	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:22155029T>A	ENST00000397126.4	-	4	2955	c.2807A>T	c.(2806-2808)aAg>aTg	p.K936M	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	936					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K836T(2)|p.K936T(1)		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)				ATGAGTTTTCTTATGTTTACT	0.368																																																	3	Substitution - Missense(3)	large_intestine(3)											47	49	49					19																	22155029		2029	4198	6227	SO:0001583	missense	0			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.2807A>T	19.37:g.22155029T>A	ENSP00000380315:p.Lys936Met			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K936M	ENST00000397126.4	37	c.2807	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	9.212	1.031120	0.19590	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.04454	3.62	2.9	-1.15	0.09709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11707	0.0285	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.16453	-1.0402	8	0.36615	T	0.2	.	3.2147	0.06695	0.1745:0.2242:0.0:0.6013	.	836	O43345	ZN208_HUMAN	M	936;836	ENSP00000380315:K936M	ENSP00000380315:K936M	K	-	2	0	ZNF208	21946869	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.104000	0.15313	-0.885000	0.03971	0.240000	0.17902	AAG	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	59	0	T	NM_007153		22155029	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	13.64	38	6	SNP	0.002	A	A	22155029	T	A	22155029	3	1	152	1	0	0	0	0	1	0	0	0	17814	1609	56	5	1039	5	ZNF208	19	22155029	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	1427267	22155029	36973954	321	38926											
ZNF208	7757	genome.wustl.edu	37	chr19	22156121	22156121	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctacagtatgaattttcTtatgataactaagggttgag	12	16	8	5	0	2	3	0	3	2	0	3	3	2	3	0	1	2	2	0	1	6	8			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:22156121T>G	ENST00000397126.4	-	4	1863	c.1715A>C	c.(1714-1716)aAg>aCg	p.K572T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	572					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)				ATGAATTTTCTTATGATAACT	0.343																																																	0													24	25	25					19																	22156121		1942	4123	6065	SO:0001583	missense	0			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.1715A>C	19.37:g.22156121T>G	ENSP00000380315:p.Lys572Thr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K572T	ENST00000397126.4	37	c.1715	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956776	0.34565	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.17854	2.25	2.82	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33527	0.0866	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.09640	-1.0665	8	0.51188	T	0.08	.	5.3547	0.16055	0.0:0.2667:0.0:0.7333	.	472	O43345	ZN208_HUMAN	T	572;472	ENSP00000380315:K572T	ENSP00000380315:K572T	K	-	2	0	ZNF208	21947961	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.593000	0.05740	0.062000	0.16340	0.254000	0.18369	AAG	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.343	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	69	0	T	NM_007153		22156121	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	41.30	27	19	SNP	0.001	G	G	22156121	T	G	22156121	3	3	152	1	0	0	0	0	1	0	0	0	17814	1609	56	4	2131	4	ZNF208	19	22156121	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	1092	22156121	36972862	322	38927											
ZNF98	148198	genome.wustl.edu	37	chr19	22575670	22575670	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcttttacagtattttcTtaactgtaaattttcacgtc	10	19	4	8	1	2	0	1	0	1	0	3	0	2	0	0	0	3	3	0	0	5	9			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:22575670T>C	ENST00000357774.5	-	4	488	c.367A>G	c.(367-369)Aga>Gga	p.R123G		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				CAGTATTTTCTTAACTGTAAA	0.333																																																	0													64	55	58					19																	22575670		1981	4191	6172	SO:0001583	missense	0				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.367A>G	19.37:g.22575670T>C	ENSP00000350418:p.Arg123Gly			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R123G	ENST00000357774.5	37	c.367	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	4.251	0.045638	0.08196	.	.	ENSG00000197360	ENST00000357774	T	0.07114	3.22	0.916	-1.37	0.09056	.	.	.	.	.	T	0.10035	0.0246	M	0.79343	2.45	0.09310	N	1	B	0.18863	0.031	B	0.19946	0.027	T	0.35574	-0.9783	9	0.39692	T	0.17	.	3.5855	0.07969	0.3347:0.0:0.0:0.6653	.	123	A6NK75	ZNF98_HUMAN	G	123	ENSP00000350418:R123G	ENSP00000350418:R123G	R	-	1	2	ZNF98	22367510	0.000000	0.05858	0.038000	0.18304	0.037000	0.13140	-0.758000	0.04766	0.257000	0.21650	0.254000	0.18369	AGA	ZNF98	-	NULL	ENSG00000197360		0.333	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	-	0	133	0	T	NM_001098626		22575670	-1	tier1	-	no_errors	ENST00000357774	ensembl	human	known	74_37	missense	10.81	99	12	SNP	0.080	C	C	22575670	T	C	22575670	3	2	152	1	0	0	0	0	1	0	0	0	18251	1617	56	4	1355	4	ZNF98	19	22575670	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	419549	22575670	36553313	323	38928											
ZNF585B	92285	genome.wustl.edu	37	chr19	37677166	37677166	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattatttgatgtgtaatcaAgtgtgccttccggatgaagg	11	14	11	5	1	1	2	1	2	0	0	2	3	2	3	2	2	1	1	2	2	5	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:37677166A>C	ENST00000532828.2	-	5	1524	c.1273T>G	c.(1273-1275)Ttg>Gtg	p.L425V	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.L370V|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.L13V	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	425					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)			TGTGTAATCAAGTGTGCCTTC	0.398																																					Melanoma(93;882 1454 18863 28917 48427)												0													110	107	108					19																	37677166		2203	4300	6503	SO:0001583	missense	0			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.1273T>G	19.37:g.37677166A>C	ENSP00000433773:p.Leu425Val		Q8IZD3|Q96JW6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L425V	ENST00000532828.2	37	c.1273	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380252	0.24944	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.52983	0.64;0.64;0.64	2.47	-1.19	0.09585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30252	N	0.010045	T	0.60301	0.2258	M	0.86343	2.81	0.09310	N	1	P;P	0.52061	0.95;0.86	P;P	0.56648	0.607;0.803	T	0.55373	-0.8151	10	0.72032	D	0.01	.	7.414	0.27034	0.6469:0.0:0.3531:0.0	.	370;425	E9PQH3;Q52M93	.;Z585B_HUMAN	V	370;425;13	ENSP00000436774:L370V;ENSP00000433773:L425V;ENSP00000442139:L13V	ENSP00000442139:L13V	L	-	1	2	ZNF585B	42369006	0.000000	0.05858	0.012000	0.15200	0.488000	0.33401	-0.880000	0.04183	-0.191000	0.10448	0.374000	0.22700	TTG	ZNF585B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000245680		0.398	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	-	0	79	0	A	NM_152279		37677166	-1	tier1	-	no_errors	ENST00000532828	ensembl	human	known	74_37	missense	23.61	55	17	SNP	0.001	C	C	37677166	A	C	37677166	3	2	152	1	0	0	0	0	1	0	0	0	18066	69	3	4	1040	4	ZNF585B	19	37677166	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	15101496	37677166	21451817	324	38929											
RASGRP4	115727	genome.wustl.edu	37	chr19	38912693	38912693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggttcatggaagccatgaCcttgctgatttcccgagggc	8	10	12	11	1	1	2	1	2	0	0	2	4	2	3	3	3	2	2	3	3	1	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:38912693C>A	ENST00000587738.1	-	2	194	c.124G>T	c.(124-126)Gtc>Ttc	p.V42F	RASGRP4_ENST00000587753.1_Missense_Mutation_p.V42F|RASGRP4_ENST00000293062.9_Missense_Mutation_p.V42F|RASGRP4_ENST00000426920.2_Missense_Mutation_p.V42F|RASGRP4_ENST00000433821.2_Missense_Mutation_p.V42F|RASGRP4_ENST00000454404.2_Missense_Mutation_p.V42F|RASGRP4_ENST00000586305.1_Missense_Mutation_p.V42F			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	42					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)			GAAGCCATGACCTTGCTGATT	0.612																																																	0													41	48	46					19																	38912693		2029	4189	6218	SO:0001583	missense	0			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.124G>T	19.37:g.38912693C>A	ENSP00000465772:p.Val42Phe		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.V42F	ENST00000587738.1	37	c.124	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576934	0.45902	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.2	3.16	0.36331	Ras guanine nucleotide exchange factor, domain (1);	0.365415	0.23437	N	0.048184	T	0.22859	0.0552	L	0.33485	1.01	0.34170	D	0.669704	P;P;B;P;B;B;P	0.50710	0.745;0.622;0.23;0.938;0.23;0.016;0.938	B;B;B;P;B;B;P	0.47470	0.303;0.169;0.082;0.548;0.053;0.013;0.548	T	0.15350	-1.0440	10	0.02654	T	1	-21.4442	10.1188	0.42607	0.0:0.8999:0.0:0.1001	.	42;42;42;42;42;42;42	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	F	42	ENSP00000411878:V42F;ENSP00000293062:V42F;ENSP00000445966:V42F;ENSP00000416463:V42F	ENSP00000293062:V42F	V	-	1	0	RASGRP4	43604533	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.460000	0.35244	1.128000	0.42052	0.563000	0.77884	GTC	RASGRP4	-	superfamily_Ras_GEF_dom	ENSG00000171777		0.612	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1		0	65	0	C	NM_170604		38912693	-1			no_errors	ENST00000587738	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A	A	38912693	C	A	38912693	3	1	152	1	0	0	0	0	1	0	0	0	13122	507	18	3	1961	3	RASGRP4	19	38912693	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	1235527	38912693	20216290	325	38930											
DYRK1B	9149	genome.wustl.edu	37	chr19	40316492	40316492	+	Frame_Shift_Del	DEL	G	G	-																															ggctgaggcagccgggtgctGgggggcaggcgctgggtgag																										TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:40316492delG	ENST00000593685.1	-	11	2221	c.1753delC	c.(1753-1755)cagfs	p.Q585fs	DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q585fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q545fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q557fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q557fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	585					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)			GCCGGGTGCTGGGGGGCAGGC	0.701																																																	0													11	15	14					19																	40316492		2143	4202	6345	SO:0001589	frameshift_variant	0			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.1753delC	19.37:g.40316492delG	ENSP00000469863:p.Gln585fs		O75258|O75788|O75789	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q585fs	ENST00000593685.1	37	c.1753	CCDS12543.1	19																																																																																			DYRK1B	-	NULL	ENSG00000105204		0.701	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYRK1B	HGNC	protein_coding	OTTHUMT00000462874.2		0	9	0	G	NM_004714		40316492	-1			no_errors	ENST00000323039	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	1.000	0	-	40316492	G	-	40316492	7	5	152	1	0	1	0	1	0	0	0	0	4869	1357	47	0	140	0	DYRK1B	19	40316492	Frame_Shift_Del	DEL	G	TCGA-RE-A7BO-01A-11D-A33E-09	1403799	40316492	18812491	326	38931											
RSPH6A	81492	genome.wustl.edu	37	chr19	46317874	46317874	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctcgggctcaggcacctgGgcactgtagtgtgggaagcc	6	7	17	11	1	1	0	1	0	0	0	2	1	1	1	2	5	1	5	2	5	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:46317874G>T	ENST00000221538.3	-	1	703	c.561C>A	c.(559-561)gcC>gcA	p.A187A	SYMPK_ENST00000598155.1_5'Flank|RSPH6A_ENST00000597055.1_Silent_p.A187A	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						CAGGCACCTGGGCACTGTAGT	0.617																																																	0													41	41	41					19																	46317874		2203	4300	6503	SO:0001819	synonymous_variant	0			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.561C>A	19.37:g.46317874G>T			Q53FE2|Q6PEZ9	Silent	SNP	pfam_Radial_spoke	p.A187	ENST00000221538.3	37	c.561	CCDS12675.1	19																																																																																			RSPH6A	-	NULL	ENSG00000104941		0.617	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	-	0	118	0	G			46317874	-1	tier1	-	no_errors	ENST00000221538	ensembl	human	known	74_37	silent	15.57	103	19	SNP	0.000	T	T	46317874	G	T	46317874	2	4	152	1	0	0	0	0	0	0	0	1	13752	1219	43	3		3	RSPH6A	19	46317874	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	6001382	46317874	12811109	327	38932											
GNG8	94235	genome.wustl.edu	37	chr19	47137887	47137887	+	Missense_Mutation	SNP	A	A	T	1	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	cgatgttcacctccagcttcAgctgttccaccgtcttgcgg	5	12	9	15	3	3	0	2	0	1	0	5	1	5	0	4	1	3	4	4	1	0	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:47137887A>T	ENST00000300873.4	-	1	55	c.53T>A	c.(52-54)cTg>cAg	p.L18Q		NM_033258.1	NP_150283.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma 8	18					G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|phototransduction (GO:0007602)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)						Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325)		CTCCAGCTTCAGCTGTTCCAC	0.652																																					Colon(120;3580 4883)												0													57	49	52					19																	47137887		2203	4300	6503	SO:0001583	missense	0			AF493875	CCDS12687.1	19q13.32	2008-07-10				ENSG00000167414			19664	protein-coding gene	gene with protein product						10819326	Standard	NM_033258		Approved		uc010xyd.2	Q9UK08		ENST00000300873.4:c.53T>A	19.37:g.47137887A>T	ENSP00000300873:p.Leu18Gln		B2R746|D3DTW5	Missense_Mutation	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	p.L18Q	ENST00000300873.4	37	c.53	CCDS12687.1	19	.	.	.	.	.	.	.	.	.	.	A	27.1	4.804282	0.90623	.	.	ENSG00000167414	ENST00000300873	T	0.55413	0.52	4.65	4.65	0.58169	G-protein gamma domain (5);	0.000000	0.56097	D	0.000038	T	0.66479	0.2793	.	.	.	0.58432	D	0.999996	D	0.61697	0.99	P	0.60286	0.872	T	0.70828	-0.4766	9	0.87932	D	0	-22.8084	10.3886	0.44156	1.0:0.0:0.0:0.0	.	18	Q9UK08	GBG8_HUMAN	Q	18	ENSP00000300873:L18Q	ENSP00000300873:L18Q	L	-	2	0	GNG8	51829727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.093000	0.64517	1.962000	0.57031	0.379000	0.24179	CTG	GNG8	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	ENSG00000167414		0.652	GNG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNG8	HGNC	protein_coding	OTTHUMT00000466587.1	-	0	93	0	A			47137887	-1	tier1	-	no_errors	ENST00000300873	ensembl	human	known	74_37	missense	18.52	66	15	SNP	1.000	T	T	47137887	A	T	47137887	3	4	152	1	0	0	0	0	1	0	0	0	6558	188	7	5	166	5	GNG8	19	47137887	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	820013	47137887	11991096	328	38933											
ARHGAP35	2909	genome.wustl.edu	37	chr19	47422455	47422455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatgaataggaactttGatgaccagctcaagtttgtc	11	11	12	7	0	1	3	1	3	0	0	2	4	1	4	1	3	2	3	1	3	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:47422455G>T	ENST00000404338.3	+	1	523	c.523G>T	c.(523-525)Gat>Tat	p.D175Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	175					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.D175Y(4)									TAGGAACTTTGATGACCAGCT	0.453																																																	4	Substitution - Missense(4)	lung(4)											115	105	108					19																	47422455		1915	4144	6059	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.523G>T	19.37:g.47422455G>T	ENSP00000385720:p.Asp175Tyr		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D175Y	ENST00000404338.3	37	c.523	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266190	0.59540	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.77620	-1.11	5.9	5.9	0.94986	.	0.048832	0.85682	D	0.000000	D	0.87140	0.6103	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	D	0.87463	0.2409	10	0.87932	D	0	-19.0795	19.0536	0.93054	0.0:0.0:1.0:0.0	.	175	Q9NRY4-2	.	Y	175	ENSP00000385720:D175Y	ENSP00000324820:D175Y	D	+	1	0	ARHGAP35	52114295	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.869000	0.99810	2.806000	0.96561	0.655000	0.94253	GAT	ARHGAP35	-	pfam_Small_GTPase,superfamily_P-loop_NTPase	ENSG00000160007		0.453	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1		0	73	0	G	NM_004491		47422455	1			no_errors	ENST00000404338	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	47422455	G	T	47422455	3	4	152	1	0	0	0	0	1	0	0	0	6822	1290	45	3	525	3	ARHGAP35	19	47422455	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	284568	47422455	11706528	329	38934											
HAS1	3036	genome.wustl.edu	37	chr19	52217193	52217193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaagaaggggaacaggccGgagaccaccgcctcgtaggt	12	3	15	11	4	0	2	0	0	0	2	1	5	0	3	4	5	1	1	4	5	4	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:52217193G>A	ENST00000222115.1	-	5	1258	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	HAS1_ENST00000594621.1_3'UTR|HAS1_ENST00000540069.2_Silent_p.S407S|HAS1_ENST00000601714.1_Silent_p.S415S	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	408					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)		GGAACAGGCCGGAGACCACCG	0.662																																					NSCLC(132;636 2450 45807 47979)												0																																										SO:0001819	synonymous_variant	0			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.1224C>T	19.37:g.52217193G>A			Q14470|Q9NS49	Silent	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.S415	ENST00000222115.1	37	c.1245	CCDS12838.1	19																																																																																			HAS1	-	NULL	ENSG00000105509		0.662	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1	-	0	57	0	G	NM_001523		52217193	-1	tier1	-	no_errors	ENST00000601714	ensembl	human	known	74_37	silent	10.91	49	6	SNP	0.970	A	A	52217193	G	A	52217193	2	1	152	1	0	0	0	0	0	0	0	1	6988	1103	39	1		1	HAS1	19	52217193	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	4794738	52217193	6911790	330	38935											
ZNF880	400713	genome.wustl.edu	37	chr19	52887527	52887527	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaccttgtacaacatcaaAgaattcatactggagagaag	18	8	7	8	0	2	2	2	0	0	2	2	4	2	3	1	1	4	1	1	1	7	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr19:52887527A>C	ENST00000422689.2	+	4	709	c.694A>C	c.(694-696)Aga>Cga	p.R232R		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	232					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						ACAACATCAAAGAATTCATAC	0.388																																																	0													37	35	36					19																	52887527		1568	3582	5150	SO:0001819	synonymous_variant	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.694A>C	19.37:g.52887527A>C			B4DNA6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R232	ENST00000422689.2	37	c.694	CCDS46164.1	19																																																																																			ZNF880	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000221923		0.388	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	-	0	80	0	A	NM_001145434		52887527	1	tier1	-	no_errors	ENST00000422689	ensembl	human	known	74_37	silent	56.25	35	45	SNP	0.004	C	C	52887527	A	C	52887527	2	2	152	1	0	0	0	0	0	0	0	1	18245	64	3	4		4	ZNF880	19	52887527	Silent	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	670334	52887527	6241456	331	38936											
SRC	6714	genome.wustl.edu	37	chr20	36030930	36030930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggagagaacctggtgtgCaaagtggcggactttgggct	8	9	18	6	1	0	1	0	0	0	1	0	4	0	3	1	5	2	2	1	5	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr20:36030930C>T	ENST00000373578.2	+	12	1558	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C	SRC_ENST00000373567.2_Silent_p.C403C|SRC_ENST00000445403.1_Silent_p.C403C|SRC_ENST00000358208.4_Silent_p.C403C|SRC_ENST00000373558.2_Silent_p.C409C|SRC_ENST00000360723.4_Silent_p.C409C|SRC_ENST00000477066.1_3'UTR	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	403	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	ACCTGGTGTGCAAAGTGGCGG	0.622																																																	0													66	59	61					20																	36030930		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1209C>T	20.37:g.36030930C>T			E1P5V4|Q76P87|Q86VB9|Q9H5A8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.C409	ENST00000373578.2	37	c.1227	CCDS13294.1	20																																																																																			SRC	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000197122		0.622	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SRC	HGNC	protein_coding	OTTHUMT00000268142.1		0	35	0	C	NM_005417		36030930	1			no_errors	ENST00000360723	ensembl	human	known	74_37	silent	9.09	39	4	SNP	1.000	T	T	36030930	C	T	36030930	2	4	152	1	0	0	0	0	0	0	0	1	15181	718	25	3		3	SRC	20	36030930	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09		36030930	26994590	332	38937											
RALGAPB	57148	genome.wustl.edu	37	chr20	37186956	37186956	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaacctgcaaatagtcgtCtacctcctcaccttattgca	11	11	6	13	1	2	0	1	0	1	0	4	1	3	1	4	1	4	2	4	1	5	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr20:37186956C>G	ENST00000262879.6	+	23	3675	c.3391C>G	c.(3391-3393)Cta>Gta	p.L1131V	RALGAPB_ENST00000397038.1_Missense_Mutation_p.L909V|RALGAPB_ENST00000397040.1_Missense_Mutation_p.L1131V|RALGAPB_ENST00000397042.3_Missense_Mutation_p.L1127V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1131					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						AAATAGTCGTCTACCTCCTCA	0.373																																																	0													219	199	206					20																	37186956		2203	4300	6503	SO:0001583	missense	0			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.3391C>G	20.37:g.37186956C>G	ENSP00000262879:p.Leu1131Val		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.L1131V	ENST00000262879.6	37	c.3391	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746822	0.49257	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96191	0.8758	L	0.51422	1.61	0.80722	D	1	D;D	0.56035	0.974;0.974	D;D	0.70487	0.969;0.969	D	0.94575	0.7774	10	0.30078	T	0.28	.	19.8339	0.96646	0.0:1.0:0.0:0.0	.	1127;1131	A2A2E9;Q86X10	.;RLGPB_HUMAN	V	1131;1127;909;1131;959	ENSP00000262879:L1131V;ENSP00000380235:L1127V;ENSP00000380231:L909V;ENSP00000380233:L1131V;ENSP00000416646:L959V	ENSP00000262879:L1131V	L	+	1	2	RALGAPB	36620370	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.345000	0.59360	2.751000	0.94390	0.655000	0.94253	CTA	RALGAPB	-	NULL	ENSG00000170471		0.373	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	-	0	107	0	C	NM_020336		37186956	1	tier1	-	no_errors	ENST00000262879	ensembl	human	known	74_37	missense	68.47	34	76	SNP	1.000	G	G	37186956	C	G	37186956	3	3	152	1	0	0	0	0	1	0	0	0	13060	912	32	5	3477	5	RALGAPB	20	37186956	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	1156026	37186956	25838564	333	38938											
GTSF1L	149699	genome.wustl.edu	37	chr20	42354942	42354942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctctcttgctgactctttCgtgtcattttcacaaacaac	8	16	5	12	1	5	1	2	1	3	0	7	1	5	1	0	0	3	1	0	0	2	4	rs375809336		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr20:42354942C>T	ENST00000373003.1	-	1	696	c.393G>A	c.(391-393)acG>acA	p.T131T	GTSF1L_ENST00000373005.2_Silent_p.T106T	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	131							metal ion binding (GO:0046872)	p.T131T(1)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTGACTCTTTCGTGTCATTTT	0.478																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	116	106	109		318,393	-4.6	0	20		109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GTSF1L	NM_001008901.1,NM_176791.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	106/124,131/149	42354942	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.393G>A	20.37:g.42354942C>T			Q5JWH5	Silent	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.T131	ENST00000373003.1	37	c.393	CCDS13323.1	20																																																																																			GTSF1L	-	NULL	ENSG00000124196		0.478	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTSF1L	HGNC	protein_coding	OTTHUMT00000079313.1	-	0	73	0	C	NM_176791		42354942	-1	tier1	-	no_errors	ENST00000373003	ensembl	human	known	74_37	silent	73.21	15	41	SNP	0.000	T	T	42354942	C	T	42354942	2	4	152	1	0	0	0	0	0	0	0	1	6914	871	31	1		1	GTSF1L	20	42354942	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	5167986	42354942	20670578	334	38939											
GNAS	2778	genome.wustl.edu	37	chr20	57430180	57430180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagccttcgggggctgcttCggtcgatctgagagtcccca	6	9	13	13	3	1	1	0	1	1	1	5	3	2	1	3	3	2	2	3	3	1	2	rs199549396		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr20:57430180C>T	ENST00000306120.3	+	1	1670	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Silent_p.F620F|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371100.4_Silent_p.F620F|GNAS_ENST00000371102.4_Silent_p.F620F			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGGGCTGCTTCGGTCGATCTG	0.617			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													24	29	27					20																	57430180		1960	4149	6109	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.1670C>T	20.37:g.57430180C>T	ENSP00000302237:p.Ser557Leu		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	NULL	p.S557L	ENST00000306120.3	37	c.1670		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.29|13.29	2.194405|2.194405	0.38806|0.38806	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000306120	.|.	.|.	.|.	3.84|3.84	1.88|1.88	0.25563|0.25563	.|.	.|.	.|.	.|.	.|.	T|T	0.39759|0.39759	0.1090|0.1090	.|.	.|.	.|.	0.21527|0.21527	N|N	0.999653|0.999653	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.34453|0.34453	-0.9828|-0.9828	4|5	.|0.72032	.|D	.|0.01	.|.	5.882|5.882	0.18860|0.18860	0.0:0.7526:0.0:0.2474|0.0:0.7526:0.0:0.2474	.|.	.|.	.|.	.|.	W|L	7|557	.|.	.|ENSP00000302237:S557L	R|S	+|+	1|2	2|0	GNAS|GNAS	56863575|56863575	0.342000|0.342000	0.24809|0.24809	0.713000|0.713000	0.30519|0.30519	0.293000|0.293000	0.27360|0.27360	0.029000|0.029000	0.13666|0.13666	0.401000|0.401000	0.25424|0.25424	0.462000|0.462000	0.41574|0.41574	CGG|TCG	GNAS	-	NULL	ENSG00000087460		0.617	GNAS-050	PUTATIVE	basic	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000267987.1	-	0	86	0	C	NM_000516		57430180	1	tier1	-	no_errors	ENST00000306120	ensembl	human	putative	74_37	missense	7.87	82	7	SNP	0.081	T	T	57430180	C	T	57430180	3	4	152	1	0	0	0	0	1	0	0	0	6536	893	31	1	2604	1	GNAS	20	57430180	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	15075238	57430180	5595340	335	38940											
NKAIN4	128414	genome.wustl.edu	37	chr20	61880181	61880181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacctttaagaggccacCgacttccaggtagaagcaga	13	7	9	12	1	1	3	1	0	0	3	2	4	2	3	4	2	1	2	4	2	3	4	rs565172154		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr20:61880181C>A	ENST00000370316.3	-	3	348	c.259G>T	c.(259-261)Ggt>Tgt	p.G87C	NKAIN4_ENST00000370307.2_Missense_Mutation_p.G25C|NKAIN4_ENST00000466885.1_5'Flank|NKAIN4_ENST00000370313.1_Missense_Mutation_p.G25C	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					AAGAGGCCACCGACTTCCAGG	0.607																																																	0													64	49	54					20																	61880181		2202	4299	6501	SO:0001583	missense	0			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.259G>T	20.37:g.61880181C>A	ENSP00000359340:p.Gly87Cys		Q4VXQ6|Q9BQU8|Q9BQU9	Missense_Mutation	SNP	pfam_Na/K-Atpase_Interacting	p.G87C	ENST00000370316.3	37	c.259	CCDS13514.1	20	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392911	0.42410	.	.	ENSG00000101198	ENST00000370313;ENST00000370316;ENST00000370307;ENST00000370317	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	3.38	3.38	0.38709	.	0.000000	0.85682	U	0.000000	T	0.60405	0.2266	M	0.76574	2.34	0.53688	D	0.999979	D;D	0.63880	0.986;0.993	P;P	0.61940	0.821;0.896	T	0.66508	-0.5906	10	0.56958	D	0.05	-11.6382	14.3544	0.66727	0.0:1.0:0.0:0.0	.	25;87	A6NNM2;Q8IVV8	.;NKAI4_HUMAN	C	25;87;25;17	ENSP00000359336:G25C;ENSP00000359340:G87C;ENSP00000359330:G25C;ENSP00000359341:G17C	ENSP00000359330:G25C	G	-	1	0	NKAIN4	61350626	1.000000	0.71417	0.963000	0.40424	0.048000	0.14542	4.734000	0.62043	1.425000	0.47237	0.205000	0.17691	GGT	NKAIN4	-	pfam_Na/K-Atpase_Interacting	ENSG00000101198		0.607	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN4	HGNC	protein_coding	OTTHUMT00000080117.3		0	42	0	C	NM_152864		61880181	-1			no_errors	ENST00000370316	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	61880181	C	A	61880181	3	1	152	1	0	0	0	0	1	0	0	0	10477	652	23	2	387	2	NKAIN4	20	61880181	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	4450001	61880181	1145339	336	38941											
BACH1	571	genome.wustl.edu	37	chr21	30715103	30715103	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgtcgtcagagtggtggGatctcagatttctgtcagca	8	12	13	8	1	4	2	3	0	2	2	6	3	4	3	0	2	1	1	0	2	0	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr21:30715103G>T	ENST00000399921.1	+	5	2403	c.2160G>T	c.(2158-2160)ggG>ggT	p.G720G	BACH1_ENST00000286800.3_Silent_p.G720G	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						AGAGTGGTGGGATCTCAGATT	0.502																																																	0													48	49	49					21																	30715103		2202	4298	6500	SO:0001819	synonymous_variant	0			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.2160G>T	21.37:g.30715103G>T			Q3MJE2|Q8NCI5	Silent	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.G720	ENST00000399921.1	37	c.2160	CCDS13585.1	21																																																																																			BACH1	-	NULL	ENSG00000156273		0.502	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	-	0	29	0	G	NM_206866		30715103	1	tier1	-	no_errors	ENST00000286800	ensembl	human	known	74_37	silent	31.25	11	5	SNP	0.089	T	T	30715103	G	T	30715103	2	4	152	1	0	0	0	0	0	0	0	1	1284	1161	41	3		3	BACH1	21	30715103	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09		30715103	17414792	337	38942											
TIAM1	7074	genome.wustl.edu	37	chr21	32508251	32508251	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcttttctgatacacacCgaatgctgccaactctggtt	10	12	7	12	2	2	1	0	1	2	0	2	2	2	1	2	1	5	3	2	1	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr21:32508251C>A	ENST00000286827.3	-	24	4354	c.3883G>T	c.(3883-3885)Gtc>Ttc	p.V1295F	TIAM1_ENST00000541036.1_Splice_Site_p.V1235F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1295	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						TGATACACACCGAATGCTGCC	0.448																																																	0													104	99	101					21																	32508251		2203	4300	6503	SO:0001630	splice_region_variant	0				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.3883+1G>T	21.37:g.32508251C>A			B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.V1295F	ENST00000286827.3	37	c.3883	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034953	0.75617	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.59364	0.27;0.3	5.25	5.25	0.73442	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	M	0.76328	2.33	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	0.77186	-0.2680	9	.	.	.	.	18.8713	0.92315	0.0:1.0:0.0:0.0	.	1235;1235;1295	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	F	1295;1235	ENSP00000286827:V1295F;ENSP00000441570:V1235F	.	V	-	1	0	TIAM1	31430122	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	7.773000	0.85462	2.449000	0.82847	0.655000	0.94253	GTC	TIAM1	-	smart_Pleckstrin_homology	ENSG00000156299		0.448	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0	92	0	C	NM_003253	Missense_Mutation	32508251	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	missense	5.49	86	5	SNP	1.000	A	A	32508251	C	A	32508251	5	1	152	1	0	0	0	0	0	0	1	0	15937	666	23	2	916	2	TIAM1	21	32508251	Splice_Site	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	1793148	32508251	15621644	338	38943											
UMODL1	89766	genome.wustl.edu	37	chr21	43531545	43531545	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggcaccacctcctcccCgaaggctactgggtcaaccc	9	6	9	17	1	1	0	1	0	0	0	3	2	3	0	6	3	2	2	6	3	4	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr21:43531545C>T	ENST00000408910.2	+	12	1899				C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400427.1_Missense_Mutation_p.P666L|UMODL1_ENST00000400424.2_Intron|UMODL1_ENST00000408989.2_Missense_Mutation_p.P738L	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						ACCTCCTCCCCGAAGGCTACT	0.662																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													46	48	47					21																	43531545		1957	4144	6101	SO:0001627	intron_variant	0				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.1900-71C>T	21.37:g.43531545C>T			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.P738L	ENST00000408910.2	37	c.2213	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004328	0.35320	.	.	ENSG00000177398	ENST00000400427;ENST00000408989	T;T	0.76316	-1.01;-0.99	3.56	2.66	0.31614	.	.	.	.	.	T	0.57829	0.2080	N	0.14661	0.345	0.09310	N	1	P	0.50710	0.938	B	0.38296	0.27	T	0.50857	-0.8778	9	0.62326	D	0.03	-0.1206	7.4591	0.27285	0.0:0.8681:0.0:0.1319	.	738	Q5DID0-2	.	L	666;738	ENSP00000383279:P666L;ENSP00000386126:P738L	ENSP00000383279:P666L	P	+	2	0	UMODL1	42404614	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	2.160000	0.42348	0.785000	0.33685	0.655000	0.94253	CCG	UMODL1	-	NULL	ENSG00000177398		0.662	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	-	0	82	0	C			43531545	1	tier1	-	no_errors	ENST00000408989	ensembl	human	known	74_37	missense	23.88	51	16	SNP	0.002	T	T	43531545	C	T	43531545	1	4	152	0	1	0	0	0	0	0	0	0	17029	652	23	1		1	UMODL1	21	43531545	Intron	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	11023294	43531545	4598350	339	38944											
GAB4	128954	genome.wustl.edu	37	chr22	17488927	17488927	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccggcggggccacttccGggccacgaagacaaaggcgc	8	2	15	16	6	0	1	0	0	0	1	1	2	1	1	5	5	0	0	5	5	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr22:17488927G>T	ENST00000400588.1	-	1	185	c.78C>A	c.(76-78)ccC>ccA	p.P26P	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	26								p.P26L(1)		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)				GGCCACTTCCGGGCCACGAAG	0.662																																																	1	Substitution - Missense(1)	skin(1)											15	19	17					22																	17488927		2072	4200	6272	SO:0001819	synonymous_variant	0			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.78C>A	22.37:g.17488927G>T				Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P26	ENST00000400588.1	37	c.78	CCDS42976.1	22																																																																																			GAB4	-	NULL	ENSG00000215568		0.662	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1		0	40	0	G	XM_372882		17488927	-1			no_errors	ENST00000400588	ensembl	human	known	74_37	silent	9.68	27	3	SNP	0.011	T	T	17488927	G	T	17488927	2	4	152	1	0	0	0	0	0	0	0	1	6175	1103	39	2		2	GAB4	22	17488927	Silent	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09		17488927	33815639	340	38945											
HIC2	23119	genome.wustl.edu	37	chr22	21799864	21799865	+	Frame_Shift_Ins	INS	-	-	G																															gctggcggggaggcgggtctINSggggggctgcagcagcagca																										TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr22:21799864_21799865insG	ENST00000443632.2	+	2	1052_1053	c.680_681insG	c.(679-684)ctggggfs	p.LG227fs	HIC2_ENST00000407598.2_Frame_Shift_Ins_p.LG227fs|HIC2_ENST00000407464.2_Frame_Shift_Ins_p.LG227fs			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	227					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)				GAGGCGGGTCTGGGGGGCTGCA	0.663																																					NSCLC(23;437 858 2282 27947 40366)												0																																										SO:0001589	frameshift_variant	0			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.686dupG	22.37:g.21799870_21799870dupG	ENSP00000387757:p.Leu227fs		Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Frame_Shift_Ins	INS	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.C230fs	ENST00000443632.2	37	c.680_681	CCDS13789.1	22																																																																																			HIC2	-	NULL	ENSG00000169635		0.663	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIC2	HGNC	protein_coding	OTTHUMT00000320061.2		0	20	0	0			21799865	1			no_errors	ENST00000407464	ensembl	human	known	74_37	frame_shift_ins	15.38	11	2	INS	0.684:0.517	G	G	21799865	-	G	21799864	7	5	152	1	0	1	1	0	0	0	0	0	7129	1580	55	0	686	0	HIC2	22	21799864	Frame_Shift_Ins	INS	-	TCGA-RE-A7BO-01A-11D-A33E-09	4310937	21799864	29504702	341	38946											
CABIN1	23523	genome.wustl.edu	37	chr22	24466851	24466851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgaactcaggtgaggctgCcgccaaggaggagtgggtgg	8	6	20	7	1	1	2	1	2	0	0	1	4	1	4	2	7	2	1	2	7	2	0			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr22:24466851C>T	ENST00000398319.2	+	17	2718	c.2333C>T	c.(2332-2334)gCc>gTc	p.A778V	CABIN1_ENST00000405822.2_Missense_Mutation_p.A728V|CABIN1_ENST00000263119.5_Missense_Mutation_p.A778V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	778					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						GGTGAGGCTGCCGCCAAGGAG	0.587																																																	0													99	86	91					22																	24466851		2203	4300	6503	SO:0001583	missense	0			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.2333C>T	22.37:g.24466851C>T	ENSP00000381364:p.Ala778Val		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A778V	ENST00000398319.2	37	c.2333	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890295	0.72524	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.32023	1.47;1.47;1.47	5.39	5.39	0.77823	.	0.298694	0.38897	N	0.001521	T	0.29423	0.0733	L	0.38175	1.15	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.04041	-1.0982	10	0.59425	D	0.04	.	18.5776	0.91161	0.0:1.0:0.0:0.0	.	728;778	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	V	778;728;778	ENSP00000263119:A778V;ENSP00000384694:A728V;ENSP00000381364:A778V	ENSP00000263119:A778V	A	+	2	0	CABIN1	22796851	0.034000	0.19679	0.091000	0.20842	0.866000	0.49608	2.439000	0.44846	2.716000	0.92895	0.650000	0.86243	GCC	CABIN1	-	NULL	ENSG00000099991		0.587	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	-	0	68	0	C	NM_012295		24466851	1	tier1	-	no_errors	ENST00000263119	ensembl	human	known	74_37	missense	23.08	30	9	SNP	0.844	T	T	24466851	C	T	24466851	3	4	152	1	0	0	0	0	1	0	0	0	2535	739	26	3	2395	3	CABIN1	22	24466851	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	2666987	24466851	26837715	342	38947											
HPS4	89781	genome.wustl.edu	37	chr22	26860498	26860500	+	In_Frame_Del	DEL	TTC	TTC	-																															tggatttcagacaagtcgagTtcttcttggagaaagactag																										TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr22:26860498_26860500delTTC	ENST00000398145.2	-	11	1712_1714	c.1096_1098delGAA	c.(1096-1098)gaadel	p.E366del	HPS4_ENST00000402105.3_In_Frame_Del_p.E361del|HPS4_ENST00000336873.5_In_Frame_Del_p.E366del|HPS4_ENST00000398141.1_In_Frame_Del_p.E379del|HPS4_ENST00000493455.2_5'Flank	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	366					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						ACAAGTCGAGTTCTTCTTGGAGA	0.547									Hermansky-Pudlak syndrome																																								0																																										SO:0001651	inframe_deletion	0	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.1096_1098delGAA	22.37:g.26860501_26860503delTTC	ENSP00000381213:p.Glu366del		B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	In_Frame_Del	DEL	NULL	p.E379in_frame_del	ENST00000398145.2	37	c.1137_1135	CCDS13835.1	22																																																																																			HPS4	-	NULL	ENSG00000100099		0.547	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1		0	43	0	TTC	NM_022081		26860500	-1	tier1		no_errors	ENST00000398141	ensembl	human	known	74_37	in_frame_del	18.18	27	6	DEL	0.000:0.029:0.025	-	-	26860500	TTC	-	26860498	7	5	152	1	0	1	0	1	0	0	0	0	7368	1722	60	0	1044	0	HPS4	22	26860498	In_Frame_Del	DEL	TTC	TCGA-RE-A7BO-01A-11D-A33E-09	2393647	26860498	24444068	343	38948											
TIMP3	7078	genome.wustl.edu	37	chr22	33253282	33253282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtgcagtacatccataCggaagcttccgagagtctct	10	10	9	12	2	1	1	0	0	1	1	4	3	3	2	3	1	4	3	3	1	3	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr22:33253282C>T	ENST00000266085.6	+	3	552	c.251C>T	c.(250-252)aCg>aTg	p.T84M	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	84	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TACATCCATACGGAAGCTTCC	0.507																																																	0													159	129	139					22																	33253282		2203	4300	6503	SO:0001583	missense	0				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.251C>T	22.37:g.33253282C>T	ENSP00000266085:p.Thr84Met		B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Missense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.T84M	ENST00000266085.6	37	c.251	CCDS13911.1	22	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774166	0.90108	.	.	ENSG00000100234	ENST00000266085;ENST00000538671;ENST00000382049	D	0.96522	-4.04	5.62	5.62	0.85841	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.85682	D	0.000000	D	0.98541	0.9513	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99305	1.0902	10	0.87932	D	0	-13.4889	19.6488	0.95793	0.0:1.0:0.0:0.0	.	84	P35625	TIMP3_HUMAN	M	84;18;84	ENSP00000266085:T84M	ENSP00000266085:T84M	T	+	2	0	TIMP3	31583282	1.000000	0.71417	0.980000	0.43619	0.931000	0.56810	7.270000	0.78493	2.637000	0.89404	0.561000	0.74099	ACG	TIMP3	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	ENSG00000100234		0.507	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP3	HGNC	protein_coding	OTTHUMT00000075672.2	-	0	77	0	C	NM_000362		33253282	1	tier1	-	no_errors	ENST00000266085	ensembl	human	known	74_37	missense	25.49	38	13	SNP	1.000	T	T	33253282	C	T	33253282	3	4	152	1	0	0	0	0	1	0	0	0	15966	536	19	1	261	1	TIMP3	22	33253282	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	6392784	33253282	18051284	344	38949											
TRIOBP	11078	genome.wustl.edu	37	chr22	38155470	38155470	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacagacaaggccactgaGctctgagaggttatgtgact	11	11	11	8	0	1	4	0	3	1	2	1	5	1	4	1	2	2	2	1	2	3	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chr22:38155470G>T	ENST00000406386.3	+	17	6579				TRIOBP_ENST00000403663.2_Intron|TRIOBP_ENST00000407319.2_Missense_Mutation_p.S411I	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein						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)					aggccactgagctctgagagg	0.567																																																	0													107	104	105					22																	38155470		2203	4300	6503	SO:0001627	intron_variant	0			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.6324+199G>T	22.37:g.38155470G>T			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S411I	ENST00000406386.3	37	c.1232	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110176	0.56398	.	.	ENSG00000100106	ENST00000407319	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	T	0.37785	0.1016	N	0.08118	0	0.80722	D	1	P	0.42039	0.769	B	0.42343	0.384	T	0.46498	-0.9187	8	0.87932	D	0	.	14.889	0.70594	0.0:0.0:1.0:0.0	.	411	F2Z2W0	.	I	411	.	ENSP00000383913:S411I	S	+	2	0	TRIOBP	36485416	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	4.270000	0.58896	2.784000	0.95788	0.643000	0.83706	AGC	TRIOBP	-	NULL	ENSG00000100106		0.567	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2		0	35	0	G			38155470	1			no_errors	ENST00000407319	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T	T	38155470	G	T	38155470	1	4	152	0	1	0	0	0	0	0	0	0	16601	971	34	3		3	TRIOBP	22	38155470	Intron	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	4902188	38155470	13149096	345	38950											
MXRA5	25878	genome.wustl.edu	37	chrX	3241800	3241800	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtaaccactgtcactgacTtggacctttgggatggaaag	11	11	11	8	0	1	1	1	1	0	0	1	4	1	4	2	3	1	1	2	3	3	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:3241800T>G	ENST00000217939.6	-	5	2080	c.1926A>C	c.(1924-1926)caA>caC	p.Q642H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	642	Ig-like C2-type 2.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTCACTGACTTGGACCTTTG	0.448																																																	0													109	96	101					X																	3241800		2203	4300	6503	SO:0001583	missense	0			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.1926A>C	X.37:g.3241800T>G	ENSP00000217939:p.Gln642His		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q642H	ENST00000217939.6	37	c.1926	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	t	5.465	0.270852	0.10349	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.01725	4.67	3.63	-0.291	0.12843	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.410761	0.17707	U	0.164717	T	0.01627	0.0052	L	0.49513	1.565	0.09310	N	1	B	0.25272	0.122	B	0.27262	0.078	T	0.47636	-0.9102	10	0.21540	T	0.41	.	0.7537	0.00995	0.2055:0.268:0.1249:0.4017	.	642	Q9NR99	MXRA5_HUMAN	H	642	ENSP00000217939:Q642H	ENSP00000217939:Q642H	Q	-	3	2	MXRA5	3251800	0.005000	0.15991	0.000000	0.03702	0.028000	0.11728	-0.041000	0.12084	-0.486000	0.06744	0.430000	0.28490	CAA	MXRA5	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000101825		0.448	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0	89	0	T	NM_015419		3241800	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	31.82	45	21	SNP	0.000	G	G	3241800	T	G	3241800	3	3	152	1	0	0	0	0	1	0	0	0	10041	1606	56	4	6572	4	MXRA5	23	3241800	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09		3241800	152028760	346	38951											
FAM9A	171482	genome.wustl.edu	37	chrX	8761752	8761752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagcctccagctcctaaCacctgtaggttgttgccacc	7	11	7	16	0	1	0	1	0	1	0	4	0	3	0	6	1	4	4	6	1	2	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:8761752C>A	ENST00000543214.1	-	8	1012	c.877G>T	c.(877-879)Gtt>Ttt	p.V293F	FAM9A_ENST00000381003.3_Missense_Mutation_p.V293F	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	293						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CAGCTCCTAACACCTGTAGGT	0.353																																																	0													127	110	116					X																	8761752		2203	4300	6503	SO:0001583	missense	0				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.877G>T	X.37:g.8761752C>A	ENSP00000440163:p.Val293Phe		B7ZLH5|Q2M2D1	Missense_Mutation	SNP	NULL	p.V293F	ENST00000543214.1	37	c.877	CCDS14131.1	X	.	.	.	.	.	.	.	.	.	.	c	10.32	1.317059	0.23908	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.697	0.697	0.18081	.	.	.	.	.	T	0.37320	0.0999	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	D	0.71184	0.972	T	0.21075	-1.0256	7	0.87932	D	0	.	.	.	.	.	293	Q8IZU1	FAM9A_HUMAN	F	293	.	ENSP00000370391:V293F	V	-	1	0	FAM9A	8721752	0.879000	0.30193	0.008000	0.14137	0.004000	0.04260	1.205000	0.32308	0.615000	0.30124	0.464000	0.42555	GTT	FAM9A	-	NULL	ENSG00000183304		0.353	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9A	HGNC	protein_coding	OTTHUMT00000055697.1	-	0	48	0	C	NM_174951		8761752	-1	tier1	-	no_errors	ENST00000381003	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.008	A	A	8761752	C	A	8761752	3	1	152	1	0	0	0	0	1	0	0	0	5681	478	17	3	129	3	FAM9A	23	8761752	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	5519952	8761752	146508808	347	38952											
CDKL5	6792	genome.wustl.edu	37	chrX	18668594	18668594	+	Silent	SNP	T	T	C	0	1	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	tgcgtcccaaaccgagccctTcatcgtccaatctccagtcc	8	9	6	18	3	2	0	1	0	1	0	7	1	5	0	6	0	3	0	6	0	2	1			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:18668594T>C	ENST00000379989.3	+	21	3147	c.2862T>C	c.(2860-2862)ctT>ctC	p.L954L	CDKL5_ENST00000379996.3_Silent_p.L954L|RS1_ENST00000476595.1_5'UTR|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	954					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)					ACCGAGCCCTTCATCGTCCAA	0.547																																																	0													159	114	129					X																	18668594		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2862T>C	X.37:g.18668594T>C			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L954	ENST00000379989.3	37	c.2862	CCDS14186.1	X																																																																																			CDKL5	-	NULL	ENSG00000008086		0.547	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	-	0	144	0	T	NM_003159		18668594	1	tier1	-	no_errors	ENST00000379989	ensembl	human	known	74_37	silent	52.44	39	43	SNP	0.003	C	C	18668594	T	C	18668594	2	2	152	1	0	0	0	0	0	0	0	1	3164	1770	62	4		4	CDKL5	23	18668594	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	9906842	18668594	136601966	348	38953											
MAGEB18	286514	genome.wustl.edu	37	chrX	26157600	26157600	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggtgttgatttgaaggaAgtggatcccatcaggcacta	10	12	12	7	0	1	2	1	2	0	0	2	4	2	4	1	4	0	2	1	4	3	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:26157600A>C	ENST00000325250.1	+	2	685	c.498A>C	c.(496-498)gaA>gaC	p.E166D		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	166	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)		p.E166D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						ATTTGAAGGAAGTGGATCCCA	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											56	44	48					X																	26157600		2202	4300	6502	SO:0001583	missense	0			AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.498A>C	X.37:g.26157600A>C	ENSP00000314543:p.Glu166Asp			Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E166D	ENST00000325250.1	37	c.498	CCDS14216.1	X	.	.	.	.	.	.	.	.	.	.	A	16.17	3.046638	0.55110	.	.	ENSG00000176774	ENST00000325250	T	0.08720	3.06	4.56	3.41	0.39046	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	M	0.91872	3.25	0.30668	N	0.753723	D	0.60575	0.988	D	0.65573	0.936	T	0.32161	-0.9917	10	0.72032	D	0.01	.	6.0174	0.19611	0.886:0.0:0.114:0.0	.	166	Q96M61	MAGBI_HUMAN	D	166	ENSP00000314543:E166D	ENSP00000314543:E166D	E	+	3	2	MAGEB18	26067521	1.000000	0.71417	0.991000	0.47740	0.656000	0.38851	0.947000	0.29082	0.871000	0.35750	0.486000	0.48141	GAA	MAGEB18	-	pfam_MAGE,pfscan_MAGE	ENSG00000176774		0.433	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	HGNC	protein_coding	OTTHUMT00000056120.1	-	0	101	0	A	NM_173699		26157600	1	tier1	-	no_errors	ENST00000325250	ensembl	human	known	74_37	missense	32.00	33	16	SNP	0.991	C	C	26157600	A	C	26157600	3	2	152	1	0	0	0	0	1	0	0	0	9213	69	3	4	500	4	MAGEB18	23	26157600	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	7489006	26157600	129112960	349	38954											
MAGEB2	4113	genome.wustl.edu	37	chrX	30236802	30236802	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtcactgaagcagaggaAgaagaggccccctgctgttc	11	6	13	11	0	1	4	1	1	0	3	2	5	1	5	2	3	2	3	2	3	3	1	rs370758512		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:30236802A>C	ENST00000378988.4	+	2	206	c.105A>C	c.(103-105)gaA>gaC	p.E35D		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	35										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AAGCAGAGGAAGAAGAGGCCC	0.597																																																	0													37	34	35					X																	30236802		2202	4299	6501	SO:0001583	missense	0			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.105A>C	X.37:g.30236802A>C	ENSP00000368273:p.Glu35Asp		O75860	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E35D	ENST00000378988.4	37	c.105	CCDS14219.1	X	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319332	0.23994	.	.	ENSG00000099399	ENST00000378988	T	0.07567	3.18	3.32	-6.64	0.01801	Melanoma associated antigen, MAGE, N-terminal (1);	1.221250	0.06158	N	0.675381	T	0.09642	0.0237	M	0.74467	2.265	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.36212	-0.9757	10	0.49607	T	0.09	.	4.1081	0.10047	0.1756:0.1403:0.5434:0.1407	.	35	O15479	MAGB2_HUMAN	D	35	ENSP00000368273:E35D	ENSP00000368273:E35D	E	+	3	2	MAGEB2	30146723	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.837000	0.04377	-1.907000	0.01087	0.417000	0.27973	GAA	MAGEB2	-	pfam_Melanoma_ass_antigen_N	ENSG00000099399		0.597	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB2	HGNC	protein_coding	OTTHUMT00000056157.1	-	0	116	0	A	NM_002364		30236802	1	tier1	-	no_errors	ENST00000378988	ensembl	human	known	74_37	missense	44.87	43	35	SNP	0.000	C	C	30236802	A	C	30236802	3	2	152	1	0	0	0	0	1	0	0	0	9214	69	3	4	107	4	MAGEB2	23	30236802	Missense_Mutation	SNP	A	TCGA-RE-A7BO-01A-11D-A33E-09	4079202	30236802	125033758	350	38955											
DGKK	139189	genome.wustl.edu	37	chrX	50213279	50213279	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggccggctctgggacCgactctagggcaggttctgg	4	9	17	11	2	4	0	0	0	4	0	4	2	4	1	2	7	0	3	2	7	1	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:50213279C>T	ENST00000376025.2	-	0	458							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					gctctgggaccgactctaggg	0.677																																																	0													38	44	42					X																	50213279		1851	4077	5928			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213279C>T			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.677	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	-	0	120	0	C	NM_001013742		50213279	-1	tier1	-	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	56.06	29	37	SNP	0.002	T	T	50213279	C	T	50213279	1	4	152	0	1	0	0	0	0	0	0	0	4486	639	23	1		1	DGKK	23	50213279	RNA	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	19976477	50213279	105057281	351	38956											
PJA1	64219	genome.wustl.edu	37	chrX	68382727	68382727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatctgccccataagagtCaatatgtccataggccattc	12	11	6	12	0	3	1	2	0	1	1	5	1	4	1	4	1	1	0	4	1	4	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:68382727C>T	ENST00000361478.1	-	2	732	c.355G>A	c.(355-357)Gac>Aac	p.D119N	PJA1_ENST00000374571.4_Missense_Mutation_p.D64N|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374583.1_Missense_Mutation_p.D119N	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	119					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						CCATAAGAGTCAATATGTCCA	0.493																																																	0													68	65	66					X																	68382727		2203	4300	6503	SO:0001583	missense	0			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.355G>A	X.37:g.68382727C>T	ENSP00000355014:p.Asp119Asn		A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D119N	ENST00000361478.1	37	c.355	CCDS14393.1	X	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120476	0.56613	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.14144	2.53;2.53;2.53	3.25	3.25	0.37280	.	0.000000	0.46758	U	0.000273	T	0.16428	0.0395	M	0.62723	1.935	0.36855	D	0.888124	P	0.40970	0.734	B	0.39617	0.305	T	0.21381	-1.0247	10	0.87932	D	0	-13.6198	11.8051	0.52150	0.0:1.0:0.0:0.0	.	119	Q8NG27	PJA1_HUMAN	N	64;119;119;64	ENSP00000363711:D119N;ENSP00000355014:D119N;ENSP00000363699:D64N	ENSP00000355014:D119N	D	-	1	0	PJA1	68299452	1.000000	0.71417	0.973000	0.42090	0.977000	0.68977	4.890000	0.63178	1.925000	0.55765	0.534000	0.68092	GAC	PJA1	-	NULL	ENSG00000181191		0.493	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	-	0	91	0	C	NM_145119		68382727	-1	tier1	-	no_errors	ENST00000361478	ensembl	human	known	74_37	missense	23.08	50	15	SNP	1.000	T	T	68382727	C	T	68382727	3	4	152	1	0	0	0	0	1	0	0	0	12000	826	29	3	1580	3	PJA1	23	68382727	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	18169448	68382727	86887833	352	38957											
MED12	9968	genome.wustl.edu	37	chrX	70349016	70349016	+	Frame_Shift_Del	DEL	C	C	-																															cggcttacctgccgcatcctCcttcaccttttcaagacacc																										TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:70349016delC	ENST00000374080.3	+	25	3560	c.3528delC	c.(3526-3528)ctcfs	p.L1177fs	MED12_ENST00000333646.6_Frame_Shift_Del_p.L1177fs|MED12_ENST00000374102.1_Frame_Shift_Del_p.L1177fs			Q93074	MED12_HUMAN	mediator complex subunit 12	1177					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)					GCCGCATCCTCCTTCACCTTT	0.498			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													72	72	72					X																	70349016		2015	4156	6171	SO:0001589	frameshift_variant	0			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.3528delC	X.37:g.70349016delC	ENSP00000363193:p.Leu1177fs	1121	O15410|O75557|Q9UHV6|Q9UND7	Frame_Shift_Del	DEL	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.L1177fs	ENST00000374080.3	37	c.3528	CCDS43970.1	X																																																																																			MED12	-	NULL	ENSG00000184634		0.498	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1		0	46	0	C	NM_005120		70349016	1	tier1		no_errors	ENST00000333646	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	1.000	-	-	70349016	C	-	70349016	7	5	152	1	0	1	0	1	0	0	0	0	9466	842	30	0	3626	0	MED12	23	70349016	Frame_Shift_Del	DEL	C	TCGA-RE-A7BO-01A-11D-A33E-09	1966289	70349016	84921544	353	38958											
NLGN3	54413	genome.wustl.edu	37	chrX	70386974	70386974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaagtgggctgtaatgtgCtggacaccgtggatatggtg	10	10	15	6	1	0	0	0	0	0	0	0	2	0	2	1	4	1	3	1	4	3	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:70386974C>T	ENST00000358741.3	+	7	1330	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	NLGN3_ENST00000374051.3_Silent_p.L323L|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.L303L	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	343					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CTGTAATGTGCTGGACACCGT	0.572																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0													123	94	103					X																	70386974		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1027C>T	X.37:g.70386974C>T			B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.L343	ENST00000358741.3	37	c.1027	CCDS55441.1	X																																																																																			NLGN3	-	pfam_CarbesteraseB	ENSG00000196338		0.572	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	-	0	59	0	C	NM_018977		70386974	1	tier1	-	no_errors	ENST00000358741	ensembl	human	known	74_37	silent	12.90	27	4	SNP	1.000	T	T	70386974	C	T	70386974	2	4	152	1	0	0	0	0	0	0	0	1	10502	796	28	3		3	NLGN3	23	70386974	Silent	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	37958	70386974	84883586	354	38959											
ITGB1BP2	26548	genome.wustl.edu	37	chrX	70524100	70524100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtagtggtgactgtatatGgccagattccacttcctgcg	8	13	11	9	1	0	2	0	1	0	1	2	2	2	2	3	2	1	2	3	2	4	6			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:70524100G>T	ENST00000373829.3	+	9	776	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.G217C	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	235	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GACTGTATATGGCCAGATTCC	0.463																																																	0													141	105	117					X																	70524100		2203	4300	6503	SO:0001583	missense	0			AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.703G>T	X.37:g.70524100G>T	ENSP00000362935:p.Gly235Cys		Q32N04|Q549J7	Missense_Mutation	SNP	pfam_CHORD,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.G235C	ENST00000373829.3	37	c.703	CCDS14411.1	X	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866506	0.32977	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	T;T	0.13657	2.57;2.57	5.24	5.24	0.73138	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.055748	0.64402	D	0.000002	T	0.25121	0.0610	L	0.33485	1.01	0.42755	D	0.993787	D;D	0.89917	1.0;1.0	D;D	0.74348	0.975;0.983	T	0.00872	-1.1532	10	0.46703	T	0.11	-6.3104	12.7768	0.57453	0.0:0.0:1.0:0.0	.	217;235	Q32N04;Q9UKP3	.;ITBP2_HUMAN	C	235;217	ENSP00000362935:G235C;ENSP00000440289:G217C	ENSP00000362935:G235C	G	+	1	0	ITGB1BP2	70440825	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	6.497000	0.73674	2.413000	0.81919	0.600000	0.82982	GGC	ITGB1BP2	-	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	ENSG00000147166		0.463	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB1BP2	HGNC	protein_coding	OTTHUMT00000057126.1	-	0	93	0	G	NM_012278		70524100	1	tier1	-	no_errors	ENST00000373829	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	70524100	G	T	70524100	3	4	152	1	0	0	0	0	1	0	0	0	7919	1348	47	3	737	3	ITGB1BP2	23	70524100	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	137126	70524100	84746460	355	38960											
NAP1L2	4674	genome.wustl.edu	37	chrX	72433666	72433666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagcctcaatgtcgtcCtcctcctcctcctcctcctc	4	12	4	21	1	1	0	1	0	0	0	10	0	8	0	9	0	1	1	9	0	2	1	rs369450592		TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:72433666C>G	ENST00000373517.3	-	1	1018	c.663G>C	c.(661-663)gaG>gaC	p.E221D	NAP1L2_ENST00000536638.1_Missense_Mutation_p.E79D	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CAATGTCGtcctcctcctcct	0.423																																																	0													70	53	59					X																	72433666		2203	4300	6503	SO:0001583	missense	0			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663G>C	X.37:g.72433666C>G	ENSP00000362616:p.Glu221Asp		B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	pfam_NAP_family	p.E221D	ENST00000373517.3	37	c.663	CCDS14423.1	X	.	.	.	.	.	.	.	.	.	.	c	0	-2.795761	0.00076	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.41758	0.99;0.99	3.01	-6.01	0.02199	.	0.520850	0.19966	N	0.102105	T	0.12390	0.0301	N	0.05199	-0.095	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15009	-1.0452	10	0.13853	T	0.58	-0.04	1.4412	0.02354	0.1311:0.3096:0.3551:0.2042	.	221	Q9ULW6	NP1L2_HUMAN	D	221;79	ENSP00000362616:E221D;ENSP00000441555:E79D	ENSP00000362616:E221D	E	-	3	2	NAP1L2	72350391	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	-0.444000	0.06854	-3.379000	0.00175	-1.908000	0.00523	GAG	NAP1L2	-	pfam_NAP_family	ENSG00000186462		0.423	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L2	HGNC	protein_coding	OTTHUMT00000057225.1		0	75	0	C	NM_021963		72433666	-1			no_errors	ENST00000373517	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.000	G	G	72433666	C	G	72433666	3	3	152	1	0	0	0	0	1	0	0	0	10195	680	24	5	723	5	NAP1L2	23	72433666	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	1909566	72433666	82836894	356	38961											
TAF9B	51616	genome.wustl.edu	37	chrX	77387169	77387169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	cagtgggtttgcttcattggCtgtgttctgtgacgaaacca	7	14	12	8	1	2	1	1	1	1	0	2	2	2	1	1	2	2	4	1	2	1	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:77387169C>T	ENST00000341864.5	-	7	788	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	232					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						GCTTCATTGGCTGTGTTCTGT	0.363																																																	0													232	198	209					X																	77387169		2203	4296	6499	SO:0001583	missense	0			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.694G>A	X.37:g.77387169C>T	ENSP00000339917:p.Ala232Thr		B2RUZ9|Q9Y2S3	Missense_Mutation	SNP	pfam_TFIID-31,superfamily_Histone-fold	p.A232T	ENST00000341864.5	37	c.694	CCDS35340.1	X	.	.	.	.	.	.	.	.	.	.	C	3.716	-0.058618	0.07317	.	.	ENSG00000187325	ENST00000341864	T	0.16324	2.35	4.2	1.23	0.21249	.	1.119980	0.06740	N	0.778234	T	0.13372	0.0324	L	0.43923	1.385	0.09310	N	1	B	0.20261	0.043	B	0.14578	0.011	T	0.37197	-0.9716	10	0.24483	T	0.36	-0.021	3.6985	0.08374	0.0:0.4235:0.209:0.3675	.	232	Q9HBM6	TAF9B_HUMAN	T	232	ENSP00000339917:A232T	ENSP00000339917:A232T	A	-	1	0	TAF9B	77273825	0.000000	0.05858	0.195000	0.23364	0.008000	0.06430	-0.546000	0.06062	0.271000	0.22005	0.544000	0.68410	GCC	TAF9B	-	NULL	ENSG00000187325		0.363	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF9B	HGNC	protein_coding	OTTHUMT00000057308.1	-	0	120	0	C	NM_015975		77387169	-1	tier1	-	no_errors	ENST00000341864	ensembl	human	known	74_37	missense	7.69	47	4	SNP	0.001	T	T	77387169	C	T	77387169	3	4	152	1	0	0	0	0	1	0	0	0	15583	797	28	3	65	3	TAF9B	23	77387169	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	4953503	77387169	77883391	357	38962											
P2RY10	27334	genome.wustl.edu	37	chrX	78216928	78216928	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccttttggatccaattcTttattactttatggcttcag	7	19	6	9	0	2	0	1	0	1	0	3	1	3	1	2	2	2	1	2	2	4	9			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:78216928T>A	ENST00000171757.2	+	4	1191	c.911T>A	c.(910-912)cTt>cAt	p.L304H	P2RY10_ENST00000544091.1_Missense_Mutation_p.L304H	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GATCCAATTCTTTATTACTTT	0.488																																																	0													179	165	170					X																	78216928		2203	4300	6503	SO:0001583	missense	0			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.911T>A	X.37:g.78216928T>A	ENSP00000171757:p.Leu304His		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L304H	ENST00000171757.2	37	c.911	CCDS14442.1	X	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858399	0.71834	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.44482	0.92;0.92	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.422461	0.23116	N	0.051754	T	0.64994	0.2649	M	0.82823	2.61	0.48632	D	0.999689	D	0.67145	0.996	D	0.67231	0.95	T	0.70572	-0.4835	10	0.87932	D	0	.	12.5703	0.56332	0.0:0.0:0.0:1.0	.	304	O00398	P2Y10_HUMAN	H	304	ENSP00000443138:L304H;ENSP00000171757:L304H	ENSP00000171757:L304H	L	+	2	0	P2RY10	78103584	1.000000	0.71417	0.960000	0.40013	0.994000	0.84299	7.627000	0.83176	1.850000	0.53721	0.483000	0.47432	CTT	P2RY10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000078589		0.488	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY10	HGNC	protein_coding	OTTHUMT00000057323.1	-	0	56	0	T			78216928	1	tier1	-	no_errors	ENST00000171757	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.995	A	A	78216928	T	A	78216928	3	1	152	1	0	0	0	0	1	0	0	0	11386	1609	56	5	913	5	P2RY10	23	78216928	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	829759	78216928	77053632	358	38963											
HDX	139324	genome.wustl.edu	37	chrX	83599322	83599322	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcattatcctctcctacTtcaggcccagcttcctctcc	5	14	4	18	0	4	0	2	0	2	0	8	0	6	0	5	1	2	1	5	1	2	4			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:83599322T>C	ENST00000297977.5	-	6	1707	c.1596A>G	c.(1594-1596)gaA>gaG	p.E532E	HDX_ENST00000506585.2_Silent_p.E474E|HDX_ENST00000373177.2_Silent_p.E532E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	532						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						CCTCTCCTACTTCAGGCCCAG	0.448																																					Pancreas(53;231 1169 36156 43751 51139)												0													108	97	100					X																	83599322		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1596A>G	X.37:g.83599322T>C			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.E532	ENST00000297977.5	37	c.1596	CCDS35342.1	X																																																																																			HDX	-	NULL	ENSG00000165259		0.448	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	-	0	116	0	T	NM_144657		83599322	-1	tier1	-	no_errors	ENST00000297977	ensembl	human	known	74_37	silent	52.38	39	44	SNP	0.919	C	C	83599322	T	C	83599322	2	2	152	1	0	0	0	0	0	0	0	1	7053	1606	56	4		4	HDX	23	83599322	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	5382394	83599322	71671238	359	38964											
PCDH11X	27328	genome.wustl.edu	37	chrX	91134101	91134101	+	Silent	SNP	T	T	C	0	1	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	ttccaaattcagcctgaaacTcccctgaattcgaagcacca	13	9	5	14	1	1	2	1	2	0	0	4	3	3	2	5	0	3	1	5	0	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:91134101T>C	ENST00000373094.1	+	2	3707	c.2862T>C	c.(2860-2862)acT>acC	p.T954T	PCDH11X_ENST00000406881.1_Silent_p.T954T|PCDH11X_ENST00000504220.2_Silent_p.T954T|PCDH11X_ENST00000373097.1_Silent_p.T954T|PCDH11X_ENST00000395337.2_Silent_p.T954T|PCDH11X_ENST00000373088.1_Silent_p.T954T|PCDH11X_ENST00000361724.1_Silent_p.T954T|PCDH11X_ENST00000298274.8_Silent_p.T954T|PCDH11X_ENST00000361655.2_Silent_p.T954T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	954					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						AGCCTGAAACTCCCCTGAATT	0.502																																					NSCLC(38;925 1092 2571 38200 45895)												0													221	187	198					X																	91134101		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2862T>C	X.37:g.91134101T>C			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T954	ENST00000373094.1	37	c.2862	CCDS14461.1	X																																																																																			PCDH11X	-	pfam_Protocadherin	ENSG00000102290		0.502	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	107	0	T	NM_032969		91134101	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	silent	52.94	24	27	SNP	0.975	C	C	91134101	T	C	91134101	2	2	152	1	0	0	0	0	0	0	0	1	11547	1538	54	4		4	PCDH11X	23	91134101	Silent	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	7534779	91134101	64136459	360	38965											
NAP1L3	4675	genome.wustl.edu	37	chrX	92926799	92926799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacttattttctgtatttcTtgtttccataatgtttgcca	7	22	5	7	0	2	1	0	1	2	0	3	1	3	1	2	0	1	3	2	0	3	9			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:92926799T>G	ENST00000373079.3	-	1	1768	c.1505A>C	c.(1504-1506)aAg>aCg	p.K502T	FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.K495T|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	502					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCTGTATTTCTTGTTTCCATA	0.318																																																	0													64	57	59					X																	92926799		2202	4298	6500	SO:0001583	missense	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1505A>C	X.37:g.92926799T>G	ENSP00000362171:p.Lys502Thr		B2RCM0|O60788	Missense_Mutation	SNP	pfam_NAP_family	p.K502T	ENST00000373079.3	37	c.1505	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	T	0.147	-1.096056	0.01843	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.34275	1.37	3.54	0.78	0.18556	.	0.186806	0.44285	D	0.000462	T	0.16342	0.0393	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.15925	-1.0420	10	0.72032	D	0.01	.	6.1562	0.20338	0.0:0.5045:0.0:0.4955	.	502	Q99457	NP1L3_HUMAN	T	502;495	ENSP00000362171:K502T	ENSP00000362171:K502T	K	-	2	0	NAP1L3	92813455	0.014000	0.17966	0.000000	0.03702	0.042000	0.13812	0.203000	0.17315	0.041000	0.15688	-1.204000	0.01649	AAG	NAP1L3	-	NULL	ENSG00000186310		0.318	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	-	0	81	0	T	NM_004538		92926799	-1	tier1	-	no_errors	ENST00000373079	ensembl	human	known	74_37	missense	58.82	14	20	SNP	0.003	G	G	92926799	T	G	92926799	3	3	152	1	0	0	0	0	1	0	0	0	10196	1609	56	4	19	4	NAP1L3	23	92926799	Missense_Mutation	SNP	T	TCGA-RE-A7BO-01A-11D-A33E-09	1792698	92926799	62343761	361	38966											
PGRMC1	10857	genome.wustl.edu	37	chrX	118374351	118374351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggataaggaagcactgaaGgatgagtacgatgacctttc	13	9	12	7	1	0	3	0	3	0	0	1	7	0	6	1	3	2	2	1	3	4	3			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:118374351G>T	ENST00000217971.7	+	2	519	c.408G>T	c.(406-408)aaG>aaT	p.K136N	PGRMC1_ENST00000535419.1_Intron	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	136	Cytochrome b5 heme-binding.				axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	AAGCACTGAAGGATGAGTACG	0.478																																																	0													148	134	139					X																	118374351		2203	4300	6503	SO:0001583	missense	0				CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.408G>T	X.37:g.118374351G>T	ENSP00000217971:p.Lys136Asn		B7Z1L3|Q9UGJ9	Missense_Mutation	SNP	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd	p.K136N	ENST00000217971.7	37	c.408	CCDS14576.1	X	.	.	.	.	.	.	.	.	.	.	.	14.13	2.443707	0.43429	.	.	ENSG00000101856	ENST00000217971	T	0.78126	-1.15	4.98	2.91	0.33838	Cytochrome b5 (3);	0.049294	0.85682	D	0.000000	T	0.70378	0.3217	L	0.61387	1.9	0.80722	D	1	B	0.27140	0.169	B	0.27608	0.081	T	0.64753	-0.6333	10	0.36615	T	0.2	-45.1961	6.6089	0.22741	0.3776:0.0:0.6224:0.0	.	136	O00264	PGRC1_HUMAN	N	136	ENSP00000217971:K136N	ENSP00000217971:K136N	K	+	3	2	PGRMC1	118258379	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.736000	0.38187	0.893000	0.36288	0.509000	0.49947	AAG	PGRMC1	-	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd	ENSG00000101856		0.478	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGRMC1	HGNC	protein_coding	OTTHUMT00000058024.1	-	0	69	0	G	NM_006667		118374351	1	tier1	-	no_errors	ENST00000217971	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	T	T	118374351	G	T	118374351	3	4	152	1	0	0	0	0	1	0	0	0	11845	991	35	3	414	3	PGRMC1	23	118374351	Missense_Mutation	SNP	G	TCGA-RE-A7BO-01A-11D-A33E-09	25447552	118374351	36896209	362	38967											
ARHGEF6	9459	genome.wustl.edu	37	chrX	135761794	135761794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggctccaagggtcctCggggctgtccggtagagcta	7	7	17	10	2	0	1	0	0	0	1	4	3	3	2	3	6	1	4	3	6	3	2			TCGA-RE-A7BO-01A-11D-A33E-09	TCGA-RE-A7BO-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe65b7bb-a8ad-4182-a07f-2bc2b663558d	d9272e43-4e83-410c-b3fb-13ec8360c195	g.chrX:135761794C>A	ENST00000250617.6	-	16	2935	c.1730G>T	c.(1729-1731)cGa>cTa	p.R577L	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.R423L|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.R423L|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.R450L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	577					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CAAGGGTCCTCGGGGCTGTCC	0.488																																																	0													119	123	122					X																	135761794		2203	4300	6503	SO:0001583	missense	0			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1730G>T	X.37:g.135761794C>A	ENSP00000250617:p.Arg577Leu		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.R577L	ENST00000250617.6	37	c.1730	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925460	0.52759	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.56941	0.44;0.57;0.57;0.43	5.66	4.79	0.61399	.	0.190614	0.47455	D	0.000223	T	0.58722	0.2142	L	0.47716	1.5	0.80722	D	1	D;P	0.57257	0.979;0.956	P;B	0.53062	0.717;0.357	T	0.59627	-0.7419	10	0.48119	T	0.1	.	15.6249	0.76848	0.0:0.8658:0.1342:0.0	.	450;577	B7Z3C7;Q15052	.;ARHG6_HUMAN	L	577;423;423;423;450	ENSP00000250617:R577L;ENSP00000359654:R423L;ENSP00000359656:R423L;ENSP00000439483:R450L	ENSP00000250617:R577L	R	-	2	0	ARHGEF6	135589460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.123000	0.77176	1.125000	0.41998	0.544000	0.68410	CGA	ARHGEF6	-	NULL	ENSG00000129675		0.488	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	-	0	123	0	C	NM_004840		135761794	-1	tier1	-	no_errors	ENST00000250617	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	A	A	135761794	C	A	135761794	3	1	152	1	0	0	0	0	1	0	0	0	910	884	31	2	628	2	ARHGEF6	23	135761794	Missense_Mutation	SNP	C	TCGA-RE-A7BO-01A-11D-A33E-09	17387443	135761794	19508766	363	38968											
KCNAB2	8514	genome.wustl.edu	37	chr1	6156793	6156793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgccgagcgcctgggctGcaccctgccccagctggcca	5	5	12	19	3	0	0	0	0	0	0	1	1	0	0	6	2	4	3	6	2	0	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:6156793G>A	ENST00000164247.1	+	14	1466	c.902G>A	c.(901-903)tGc>tAc	p.C301Y	KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000602612.1_Missense_Mutation_p.C301Y|KCNAB2_ENST00000458166.2_Missense_Mutation_p.C234Y|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Missense_Mutation_p.C287Y|KCNAB2_ENST00000352527.1_Missense_Mutation_p.C287Y|KCNAB2_ENST00000341524.1_Missense_Mutation_p.C301Y|KCNAB2_ENST00000378097.1_Missense_Mutation_p.C301Y|KCNAB2_ENST00000378083.3_Missense_Mutation_p.C349Y	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	301					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTGGGCTGCACCCTGCCC	0.677																																																	0													16	18	17					1																	6156793		2183	4279	6462	SO:0001583	missense	0			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"Potassium channels", "Aldo-keto reductases"	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.902G>A	1.37:g.6156793G>A	ENSP00000164247:p.Cys301Tyr		A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.C349Y	ENST00000164247.1	37	c.1046	CCDS55.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.073212	0.94000	.	.	ENSG00000069424	ENST00000378097;ENST00000378092;ENST00000341524;ENST00000352527;ENST00000164247;ENST00000378083;ENST00000458166	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.26	5.26	0.73747	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.987	D;D;D;P	0.87578	0.998;0.993;0.994;0.771	T	0.60136	-0.7322	10	0.56958	D	0.05	-45.9681	18.2262	0.89917	0.0:0.0:1.0:0.0	.	349;287;301;301	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	Y	301;287;301;287;301;349;234	ENSP00000367337:C301Y;ENSP00000367332:C287Y;ENSP00000340824:C301Y;ENSP00000318772:C287Y;ENSP00000164247:C301Y;ENSP00000367323:C349Y;ENSP00000396167:C234Y	ENSP00000164247:C301Y	C	+	2	0	KCNAB2	6079380	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.645000	0.98471	2.640000	0.89533	0.655000	0.94253	TGC	KCNAB2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB	ENSG00000069424		0.677	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	KCNAB2	HGNC	protein_coding	OTTHUMT00000002114.3		0	22	0	G	NM_172130		6156793	1			no_errors	ENST00000378083	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	A	A	6156793	G	A	6156793	3	1	153	1	0	0	0	0	1	0	0	0	8037	1319	46	3	952	3	KCNAB2	1	6156793	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09		6156793	243093828	1	38969											
PIK3CD	5293	genome.wustl.edu	37	chr1	9783211	9783211	+	Frame_Shift_Del	DEL	G	G	-																															cctatggctgcctccccaccGgggaccgcacaggcctcatt																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:9783211delG	ENST00000377346.4	+	20	2650	c.2455delG	c.(2455-2457)gggfs	p.G819fs	PIK3CD_ENST00000361110.2_Frame_Shift_Del_p.G843fs|PIK3CD_ENST00000536656.1_Frame_Shift_Del_p.G843fs	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	819	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCTCCCCACCGGGGACCGCAC	0.602																																																	0													136	137	136					1																	9783211		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2455delG	1.37:g.9783211delG	ENSP00000366563:p.Gly819fs		A6NCG0|G1FFP1|O15445|Q5SR49	Frame_Shift_Del	DEL	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.D844fs	ENST00000377346.4	37	c.2527	CCDS104.1	1																																																																																			PIK3CD	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000171608		0.602	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1		0	31	0	G	NM_005026		9783211	1	tier1		no_errors	ENST00000536656	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	0.999	-	-	9783211	G	-	9783211	7	5	153	1	0	1	0	1	0	0	0	0	11954	1116	39	0	2525	0	PIK3CD	1	9783211	Frame_Shift_Del	DEL	G	TCGA-S8-A6BV-01A-21D-A31U-09	3626418	9783211	239467410	2	38970											
PRAMEF11	440560	genome.wustl.edu	37	chr1	12887426	12887426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcattcccaaaattttcagcTtcttacagcacaggtgtagt	11	13	7	10	0	2	0	1	0	1	0	3	0	3	0	1	1	3	4	1	1	4	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:12887426T>C	ENST00000535591.1	-	3	626	c.431A>G	c.(430-432)aAg>aGg	p.K144R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	144					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						AATTTTCAGCTTCTTACAGCA	0.453																																																	0																																										SO:0001583	missense	0			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.431A>G	1.37:g.12887426T>C	ENSP00000439551:p.Lys144Arg			Missense_Mutation	SNP	NULL	p.K144R	ENST00000535591.1	37	c.431	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.958719	0.34565	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.16743	2.32;2.32	1.48	0.276	0.15663	.	0.818727	0.11252	N	0.583507	T	0.32585	0.0834	M	0.88181	2.935	0.09310	N	1	D	0.53745	0.962	P	0.53313	0.723	T	0.17837	-1.0356	10	0.72032	D	0.01	.	3.3731	0.07228	0.0:0.2396:0.0:0.7604	.	144	O60813	PRA11_HUMAN	R	144;185;144	ENSP00000439551:K144R;ENSP00000391839:K144R	ENSP00000328783:K185R	K	-	2	0	PRAMEF11	12810013	0.000000	0.05858	0.003000	0.11579	0.129000	0.20672	-0.790000	0.04604	0.063000	0.16370	0.329000	0.21502	AAG	PRAMEF11	-	NULL	ENSG00000204513		0.453	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		-	0	238	0	T	XM_496341		12887426	-1	tier1	-	no_errors	ENST00000535591	ensembl	human	known	74_37	missense	14.57	170	29	SNP	0.004	C	C	12887426	T	C	12887426	3	2	153	1	0	0	0	0	1	0	0	0	12469	1609	56	4	887	4	PRAMEF11	1	12887426	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	3104215	12887426	236363195	3	38971											
AGMAT	79814	genome.wustl.edu	37	chr1	15909825	15909826	+	Frame_Shift_Ins	INS	-	-	C																															gagggactggaaggggagggINScccccgtgctaggattgact																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:15909825_15909826insC	ENST00000375826.3	-	2	479_480	c.337_338insG	c.(337-339)gccfs	p.A113fs	RP4-680D5.2_ENST00000428945.1_RNA|DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	113					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGGGAGGGCCCCCGTGCTA	0.54																																					NSCLC(126;1678 1780 25805 43508 49531)												0																																										SO:0001589	frameshift_variant	0			AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.338dupG	1.37:g.15909830_15909830dupC	ENSP00000364986:p.Ala113fs		Q5TDH1|Q9H5J3	Frame_Shift_Ins	INS	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel	p.A113fs	ENST00000375826.3	37	c.338_337	CCDS160.1	1																																																																																			AGMAT	-	pfam_Ureohydrolase,tigrfam_Agmatinase-rel	ENSG00000116771		0.54	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMAT	HGNC	protein_coding	OTTHUMT00000006763.1		0	28	0	-	NM_024758		15909826	-1	tier1		no_errors	ENST00000375826	ensembl	human	known	74_37	frame_shift_ins	5.71	33	2	INS	0.991:0.994	C	C	15909826	-	C	15909825	7	5	153	1	0	1	1	0	0	0	0	0	385	1203	42	0	744	0	AGMAT	1	15909825	Frame_Shift_Ins	INS	-	TCGA-S8-A6BV-01A-21D-A31U-09	3022399	15909825	233340796	4	38972											
CSMD2	114784	genome.wustl.edu	37	chr1	34042918	34042918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacagagagggatggcttcGctccacaggtggtagccctg	8	8	15	10	1	0	2	0	1	0	1	2	4	1	3	2	4	1	3	2	4	1	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:34042918G>A	ENST00000373381.4	-	49	7730	c.7554C>T	c.(7552-7554)agC>agT	p.S2518S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2520	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)				GGATGGCTTCGCTCCACAGGT	0.607																																																	0													72	70	71					1																	34042918		2203	4300	6503	SO:0001819	synonymous_variant	0			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.7554C>T	1.37:g.34042918G>A			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S2518	ENST00000373381.4	37	c.7554		1																																																																																			CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.607	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0	51	0	G	NM_052896		34042918	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	29.55	31	13	SNP	0.756	A	A	34042918	G	A	34042918	2	1	153	1	0	0	0	0	0	0	0	1	3954	1078	38	1		1	CSMD2	1	34042918	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	18133093	34042918	215207703	5	38973											
EIF2C3	192669	genome.wustl.edu	37	chr1	36439083	36439083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatcagtctgttcggcctgCcatgtggaaaatgatgctta	9	12	10	10	1	2	1	1	1	1	0	3	2	2	2	3	2	2	2	3	2	3	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:36439083C>T	ENST00000373191.4	+	5	978	c.629C>T	c.(628-630)gCc>gTc	p.A210V	AGO3_ENST00000324350.5_Missense_Mutation_p.A210V|AGO3_ENST00000246314.6_Intron|AGO3_ENST00000397828.2_Missense_Mutation_p.A210V	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	210					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)										GTTCGGCCTGCCATGTGGAAA	0.458																																																	0													201	199	200					1																	36439083		2203	4300	6503	SO:0001583	missense	0			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.629C>T	1.37:g.36439083C>T	ENSP00000362287:p.Ala210Val		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.A210V	ENST00000373191.4	37	c.629	CCDS399.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.661650	0.96734	.	.	ENSG00000126070	ENST00000324350;ENST00000373191;ENST00000397828	T;T;T	0.10099	3.03;2.91;3.03	5.62	5.62	0.85841	Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	L	0.47716	1.5	0.80722	D	1	B;P	0.42757	0.425;0.789	P;P	0.47251	0.497;0.542	T	0.00148	-1.1989	10	0.87932	D	0	-32.6947	19.6679	0.95900	0.0:1.0:0.0:0.0	.	210;210	Q9H9G7;Q5TA56	AGO3_HUMAN;.	V	210	ENSP00000317425:A210V;ENSP00000362287:A210V;ENSP00000380928:A210V	ENSP00000317425:A210V	A	+	2	0	EIF2C3	36211670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.650000	0.89964	0.563000	0.77884	GCC	AGO3	-	pfam_DUF1785	ENSG00000126070		0.458	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO3	HGNC	protein_coding	OTTHUMT00000019831.4	-	0	76	0	C	NM_024852		36439083	1	tier1	-	no_errors	ENST00000373191	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	36439083	C	T	36439083	3	4	153	1	0	0	0	0	1	0	0	0	5021	739	26	3	647	3	EIF2C3	1	36439083	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	2396165	36439083	212811538	6	38974											
CYP4B1	1580	genome.wustl.edu	37	chr1	47280896	47280896	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagcatcgttgtagagagGaggtccgcgagatcctaggg	10	7	15	9	3	0	2	0	0	0	2	3	5	2	3	3	3	1	3	3	3	2	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:47280896G>T	ENST00000271153.4	+	8	1066	c.1030G>T	c.(1030-1032)Gag>Tag	p.E344*	CYP4B1_ENST00000371919.4_Nonsense_Mutation_p.E330*|CYP4B1_ENST00000452782.2_Nonsense_Mutation_p.E182*|CYP4B1_ENST00000371923.4_Nonsense_Mutation_p.E345*			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	344					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TTGTAGAGAGGAGGTCCGCGA	0.572																																																	0													109	90	96					1																	47280896		2203	4300	6503	SO:0001587	stop_gained	0			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1030G>T	1.37:g.47280896G>T	ENSP00000271153:p.Glu344*		Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.E345*	ENST00000271153.4	37	c.1033	CCDS542.1	1	.	.	.	.	.	.	.	.	.	.	g	27.2	4.811553	0.90707	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.168	0.98156	0.0:0.0:1.0:0.0	.	.	.	.	X	345;344;330;182;181	.	ENSP00000271153:E344X	E	+	1	0	CYP4B1	47053483	1.000000	0.71417	0.996000	0.52242	0.013000	0.08279	7.896000	0.87350	2.782000	0.95742	0.643000	0.83706	GAG	CYP4B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000142973		0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	HGNC	protein_coding	OTTHUMT00000021911.1		0	28	0	G	NM_000779		47280896	1			no_errors	ENST00000371923	ensembl	human	known	74_37	nonsense	13.33	39	6	SNP	1.000	T	T	47280896	G	T	47280896	4	4	153	1	0	0	0	0	0	1	0	0	4194	1175	41	3	1063	3	CYP4B1	1	47280896	Nonsense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	10841813	47280896	201969725	7	38975											
ST6GALNAC3	256435	genome.wustl.edu	37	chr1	76877737	76877737	+	Silent	SNP	A	A	C	1	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	tgtgccatagtgtcaaactcAggtcagatggttggccagaa	11	10	12	8	0	3	2	3	0	0	2	3	2	3	2	2	3	2	1	2	3	3	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:76877737A>C	ENST00000328299.3	+	3	406	c.258A>C	c.(256-258)tcA>tcC	p.S86S	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	86					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGTCAAACTCAGGTCAGATGG	0.428																																																	0													111	98	102					1																	76877737		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.258A>C	1.37:g.76877737A>C			Q6PCE0|Q6UX29|Q8N259	Silent	SNP	pfam_Glyco_trans_29	p.S86	ENST00000328299.3	37	c.258	CCDS672.1	1																																																																																			ST6GALNAC3	-	pfam_Glyco_trans_29	ENSG00000184005		0.428	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	-	0	60	0	A	NM_152996		76877737	1	tier1	-	no_errors	ENST00000328299	ensembl	human	known	74_37	silent	11.48	54	7	SNP	0.561	C	C	76877737	A	C	76877737	2	2	153	1	0	0	0	0	0	0	0	1	15272	175	7	4		4	ST6GALNAC3	1	76877737	Silent	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	29596841	76877737	172372884	8	38976											
AMY2B	280	genome.wustl.edu	37	chr1	104120136	104120136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaatgattgggttgggccaCcaaataataatggagtaatt	14	13	10	4	0	0	1	0	1	0	0	0	2	0	2	2	3	0	2	2	3	5	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:104120136C>A	ENST00000361355.4	+	10	1742	c.1126C>A	c.(1126-1128)Cca>Aca	p.P376T	AMY2B_ENST00000491397.1_Intron	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	376					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGTTGGGCCACCAAATAATAA	0.378																																																	0													139	146	144					1																	104120136		2203	4300	6503	SO:0001583	missense	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1126C>A	1.37:g.104120136C>A	ENSP00000354610:p.Pro376Thr		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.P376T	ENST00000361355.4	37	c.1126	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344831	0.61073	.	.	ENSG00000240038	ENST00000361355	.	.	.	4.65	4.65	0.58169	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.88952	0.3387	9	0.46703	T	0.11	.	17.5096	0.87756	0.0:1.0:0.0:0.0	.	376	P19961	AMY2B_HUMAN	T	376	.	ENSP00000354610:P376T	P	+	1	0	AMY2B	103921659	1.000000	0.71417	0.995000	0.50966	0.434000	0.31775	7.605000	0.82844	2.122000	0.65172	0.453000	0.30009	CCA	AMY2B	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000240038		0.378	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	-	0	295	0	C	NM_020978		104120136	1	tier1	-	no_errors	ENST00000361355	ensembl	human	known	74_37	missense	6.49	317	22	SNP	1.000	A	A	104120136	C	A	104120136	3	1	153	1	0	0	0	0	1	0	0	0	595	507	18	3	1156	3	AMY2B	1	104120136	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	27242399	104120136	145130485	9	38977											
SARS	6301	genome.wustl.edu	37	chr1	109773544	109773544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttggggtgattgtacagtCaggaagaagtactctcatgt	11	13	12	5	0	2	2	2	1	1	1	3	3	2	3	0	3	2	2	0	3	4	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:109773544C>T	ENST00000234677.2	+	5	567	c.492C>T	c.(490-492)gtC>gtT	p.V164V	SARS_ENST00000369923.4_Silent_p.V164V	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	164					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	ATTGTACAGTCAGGAAGAAGT	0.448																																																	0													168	163	165					1																	109773544		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.492C>T	1.37:g.109773544C>T			B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	p.V164	ENST00000234677.2	37	c.492	CCDS795.1	1																																																																																			SARS	-	pirsf_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	ENSG00000031698		0.448	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2	-	0	96	0	C	NM_006513		109773544	1	tier1	-	no_errors	ENST00000369923	ensembl	human	known	74_37	silent	16.67	80	16	SNP	0.996	T	T	109773544	C	T	109773544	2	4	153	1	0	0	0	0	0	0	0	1	13889	813	29	3		3	SARS	1	109773544	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	5653408	109773544	139477077	10	38978											
LCE1D	353134	genome.wustl.edu	37	chr1	152770547	152770547	+	Missense_Mutation	SNP	A	A	C	1	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	cccagagctctgactgctgcAgccagccctcggggggctcc	5	6	13	17	1	1	2	0	1	1	1	3	2	2	2	4	3	5	4	4	3	0	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:152770547A>C	ENST00000326233.6	+	2	320	c.277A>C	c.(277-279)Agc>Cgc	p.S93R		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	93	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGCTGCAGCCAGCCCTC	0.672																																																	0													31	29	30					1																	152770547		2017	3761	5778	SO:0001583	missense	0				CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"Late cornified envelopes"	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.277A>C	1.37:g.152770547A>C	ENSP00000316737:p.Ser93Arg			Missense_Mutation	SNP	NULL	p.S93R	ENST00000326233.6	37	c.277	CCDS1025.1	1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415003	0.25552	.	.	ENSG00000172155	ENST00000326233	T	0.03831	3.79	4.52	-2.19	0.07015	.	0.172281	0.28214	N	0.016163	T	0.01592	0.0051	L	0.56769	1.78	0.20873	N	0.999834	B	0.11235	0.004	B	0.08055	0.003	T	0.40098	-0.9581	10	0.87932	D	0	.	5.0532	0.14520	0.3734:0.1893:0.4373:0.0	.	93	Q5T752	LCE1D_HUMAN	R	93	ENSP00000316737:S93R	ENSP00000316737:S93R	S	+	1	0	LCE1D	151037171	0.930000	0.31532	0.975000	0.42487	0.861000	0.49209	1.046000	0.30354	-0.047000	0.13423	0.454000	0.30748	AGC	LCE1D	-	NULL	ENSG00000172155		0.672	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1D	HGNC	protein_coding	OTTHUMT00000034657.2	-	0	66	0	A	NM_178352		152770547	1	tier1	-	no_errors	ENST00000326233	ensembl	human	known	74_37	missense	8.26	100	9	SNP	0.765	C	C	152770547	A	C	152770547	3	2	153	1	0	0	0	0	1	0	0	0	8690	188	7	4	279	4	LCE1D	1	152770547	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	42997003	152770547	96480074	11	38979											
IVL	3713	genome.wustl.edu	37	chr1	152882818	152882818	+	Missense_Mutation	SNP	A	A	T	1	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	cccggagcagcaggaggggcAgctggagctcccagagcagc	9	2	17	13	1	0	1	0	0	0	1	1	4	1	4	2	5	6	6	2	5	0	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:152882818A>T	ENST00000368764.3	+	2	609	c.545A>T	c.(544-546)cAg>cTg	p.Q182L	IVL_ENST00000392667.2_Missense_Mutation_p.Q36L			P07476	INVO_HUMAN	involucrin	182	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			caggaggggcagctggagctc	0.662																																																	0													11	12	12					1																	152882818		2196	4286	6482	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.545A>T	1.37:g.152882818A>T	ENSP00000357753:p.Gln182Leu		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q182L	ENST00000368764.3	37	c.545	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.882555	0.33255	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11604	2.98;2.76	3.89	1.33	0.21861	.	.	.	.	.	T	0.05044	0.0135	L	0.53249	1.67	0.09310	N	1	P	0.46395	0.877	P	0.47430	0.547	T	0.31779	-0.9931	9	0.32370	T	0.25	.	5.4295	0.16446	0.6456:0.1807:0.0:0.1737	.	182	P07476	INVO_HUMAN	L	182;36	ENSP00000357753:Q182L;ENSP00000376435:Q36L	ENSP00000357753:Q182L	Q	+	2	0	IVL	151149442	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.458000	0.06737	0.027000	0.15297	0.358000	0.22013	CAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.662	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0	50	0	A	NM_005547		152882818	1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	9.20	79	8	SNP	0.264	T	T	152882818	A	T	152882818	3	4	153	1	0	0	0	0	1	0	0	0	7956	188	7	5	547	5	IVL	1	152882818	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	112271	152882818	96367803	12	38980											
KCNN3	3782	genome.wustl.edu	37	chr1	154842241	154842241	+	Missense_Mutation	SNP	T	T	A	0	1	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	gctgctgctgctgctgctgcTgaagctgcggaggctgaggc	4	9	17	11	1	0	2	0	2	0	0	0	3	0	3	0	3	8	9	0	3	1	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:154842241T>A	ENST00000271915.4	-	1	515	c.200A>T	c.(199-201)cAg>cTg	p.Q67L	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	67	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)	ctgctgctgctgaagctgcgg	0.701																																																	0													6	5	5					1																	154842241		1902	3781	5683	SO:0001583	missense	0			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.200A>T	1.37:g.154842241T>A	ENSP00000271915:p.Gln67Leu		B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.Q67L	ENST00000271915.4	37	c.200	CCDS30880.1	1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297656	0.23650	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.58940	0.3	4.75	2.32	0.28847	.	0.807289	0.10421	N	0.676712	T	0.21631	0.0521	N	0.19112	0.55	0.80722	D	1	B;B	0.29432	0.023;0.244	B;B	0.24006	0.021;0.05	T	0.06588	-1.0818	10	0.30078	T	0.28	-5.2094	10.2095	0.43132	0.0:0.0:0.3164:0.6836	.	73;72	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	L	67;162	ENSP00000271915:Q67L	ENSP00000271915:Q67L	Q	-	2	0	KCNN3	153108865	0.992000	0.36948	0.947000	0.38551	0.975000	0.68041	0.617000	0.24359	0.280000	0.22209	0.460000	0.39030	CAG	KCNN3	-	NULL	ENSG00000143603		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3		0	66	0	T	NM_002249		154842241	-1			no_errors	ENST00000271915	ensembl	human	novel	74_37	missense	5.56	117	7	SNP	0.941	A	A	154842241	T	A	154842241	3	1	153	1	0	0	0	0	1	0	0	0	8107	1580	55	5	2049	5	KCNN3	1	154842241	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	1959423	154842241	94408380	13	38981											
CD1D	912	genome.wustl.edu	37	chr1	158151871	158151871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaggtgcaccctgggaaCgcctcaaataacttcttcca	10	10	9	12	1	2	1	1	1	1	0	3	2	3	2	3	2	3	1	3	2	3	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:158151871C>T	ENST00000368171.3	+	4	877	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	126					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)					ACCCTGGGAACGCCTCAAATA	0.493																																																	0													121	134	129					1																	158151871		2203	4300	6503	SO:0001819	synonymous_variant	0			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.378C>T	1.37:g.158151871C>T			D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.N126	ENST00000368171.3	37	c.378	CCDS1173.1	1																																																																																			CD1D	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158473		0.493	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1D	HGNC	protein_coding	OTTHUMT00000058340.1	-	0	38	0	C	NM_001766		158151871	1	tier1	-	no_errors	ENST00000368171	ensembl	human	known	74_37	silent	18.18	27	6	SNP	0.000	T	T	158151871	C	T	158151871	2	4	153	1	0	0	0	0	0	0	0	1	2984	535	19	1		1	CD1D	1	158151871	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	3309630	158151871	91098750	14	38982											
CD1E	913	genome.wustl.edu	37	chr1	158325179	158325179	+	Missense_Mutation	SNP	A	A	T	1	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	atcaagggtcagatttcctgAgtttccaaggaatttcctgg	10	13	10	8	0	2	2	2	1	0	1	5	3	5	3	3	3	0	1	3	3	3	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:158325179A>T	ENST00000368167.3	+	3	684	c.445A>T	c.(445-447)Agt>Tgt	p.S149C	CD1E_ENST00000368161.3_Missense_Mutation_p.S149C|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.S149C|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.S50C|CD1E_ENST00000368160.3_Missense_Mutation_p.S149C|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.S147C|CD1E_ENST00000452291.2_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	149			S -> N (in allele CD1E*05; dbSNP:rs35116276). {ECO:0000269|PubMed:12144626}.		antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGATTTCCTGAGTTTCCAAGG	0.458																																																	0													100	98	99					1																	158325179		1836	4093	5929	SO:0001583	missense	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.445A>T	1.37:g.158325179A>T	ENSP00000357149:p.Ser149Cys		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S149C	ENST00000368167.3	37	c.445	CCDS41417.1	1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.206804	0.58343	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000368163;ENST00000368160;ENST00000368161	T;T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01;3.01	4.53	3.37	0.38596	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.254966	0.28209	N	0.016191	T	0.22627	0.0546	M	0.89534	3.04	0.22796	N	0.998727	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.83275	0.945;0.945;0.98;0.945;0.996;0.966	T	0.10428	-1.0630	10	0.87932	D	0	-7.7902	8.1605	0.31196	0.7958:0.2042:0.0:0.0	.	147;50;149;149;149;149	E7ET31;E7EP01;P15812-2;P15812;P15812-3;P15812-4	.;.;.;CD1E_HUMAN;.;.	C	147;50;149;149;149;149	ENSP00000401957:S147C;ENSP00000402906:S50C;ENSP00000357149:S149C;ENSP00000357145:S149C;ENSP00000357142:S149C;ENSP00000357143:S149C	ENSP00000357142:S149C	S	+	1	0	CD1E	156591803	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.394000	0.44450	0.848000	0.35191	0.460000	0.39030	AGT	CD1E	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158488		0.458	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	-	0	28	0	A	NM_030893		158325179	1	tier1	-	no_errors	ENST00000368167	ensembl	human	known	74_37	missense	16.67	44	9	SNP	1.000	T	T	158325179	A	T	158325179	3	4	153	1	0	0	0	0	1	0	0	0	2985	304	11	5	455	5	CD1E	1	158325179	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	173308	158325179	90925442	15	38983											
TNR	7143	genome.wustl.edu	37	chr1	175299280	175299280	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgacagagaacctgtcGtaggaggcgaaggcggcctc	9	6	14	12	4	0	1	0	0	0	1	4	5	1	2	3	4	1	1	3	4	3	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:175299280G>A	ENST00000367674.2	-	21	4431	c.3723C>T	c.(3721-3723)taC>taT	p.Y1241Y	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Silent_p.Y1241Y			Q92752	TENR_HUMAN	tenascin R	1241	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)					AGAACCTGTCGTAGGAGGCGA	0.587																																																	0													82	69	74					1																	175299280		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3723C>T	1.37:g.175299280G>A			C9J563|Q15568|Q5R3G0	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.Y1241	ENST00000367674.2	37	c.3723	CCDS1318.1	1																																																																																			TNR	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000116147		0.587	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4		0	21	0	G	NM_003285		175299280	-1			no_errors	ENST00000263525	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.983	A	A	175299280	G	A	175299280	2	1	153	1	0	0	0	0	0	0	0	1	16385	1140	40	1		1	TNR	1	175299280	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	16974101	175299280	73951341	16	38984											
HMCN1	83872	genome.wustl.edu	37	chr1	186086741	186086741	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccaggggagatggctataGaattctgtcctcaggtaaga	11	10	12	8	0	2	3	1	0	1	3	4	4	4	3	2	4	0	2	2	4	4	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:186086741G>C	ENST00000271588.4	+	77	12063	c.11834G>C	c.(11833-11835)aGa>aCa	p.R3945T	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3945T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3945	Ig-like C2-type 38.				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						GATGGCTATAGAATTCTGTCC	0.428																																																	0													94	93	93					1																	186086741		2203	4300	6503	SO:0001583	missense	0			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.11834G>C	1.37:g.186086741G>C	ENSP00000271588:p.Arg3945Thr		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R3945T	ENST00000271588.4	37	c.11834	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311000	0.40895	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67865	-0.29;-0.29	5.65	4.69	0.59074	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.179778	0.64402	D	0.000012	T	0.66247	0.2770	N	0.16098	0.37	0.40465	D	0.980287	D	0.71674	0.998	D	0.79784	0.993	T	0.61217	-0.7107	10	0.13853	T	0.58	.	16.0774	0.80976	0.0:0.1339:0.8661:0.0	.	3945	Q96RW7	HMCN1_HUMAN	T	3945	ENSP00000271588:R3945T;ENSP00000356462:R3945T	ENSP00000271588:R3945T	R	+	2	0	HMCN1	184353364	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	3.121000	0.50438	2.655000	0.90218	0.655000	0.94253	AGA	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	33	0	G	NM_031935		186086741	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	46.15	49	42	SNP	1.000	C	C	186086741	G	C	186086741	3	2	153	1	0	0	0	0	1	0	0	0	7247	942	33	5	12140	5	HMCN1	1	186086741	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	10787461	186086741	63163880	17	38985											
PRG4	10216	genome.wustl.edu	37	chr1	186275465	186275465	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagtaaaagataacaagaAgaacagaactaaaaagaaac	25	4	6	6	0	0	5	0	0	0	5	1	5	1	5	1	0	4	1	1	0	11	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:186275465A>G	ENST00000445192.2	+	7	659	c.614A>G	c.(613-615)aAg>aGg	p.K205R	PRG4_ENST00000367484.3_Missense_Mutation_p.K164R|PRG4_ENST00000367486.3_Missense_Mutation_p.K162R|PRG4_ENST00000367483.4_Missense_Mutation_p.K164R|PRG4_ENST00000367485.4_Missense_Mutation_p.K112R	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	205					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						GATAACAAGAAGAACAGAACT	0.343																																																	0													102	108	106					1																	186275465		2203	4300	6503	SO:0001583	missense	0			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.614A>G	1.37:g.186275465A>G	ENSP00000399679:p.Lys205Arg		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.K205R	ENST00000445192.2	37	c.614	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	A	9.096	1.002966	0.19121	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T	0.52057	2.99;3.28;0.68;3.16;3.31;3.27	4.07	4.07	0.47477	.	0.146164	0.30762	U	0.008921	T	0.59183	0.2175	M	0.64997	1.995	0.20821	N	0.999844	D;D;D;D	0.76494	0.999;0.999;0.996;0.999	D;D;D;D	0.74023	0.982;0.982;0.914;0.982	T	0.49753	-0.8906	10	0.18710	T	0.47	-0.8643	9.7402	0.40413	1.0:0.0:0.0:0.0	.	71;112;205;164	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	R	162;164;114;71;164;112;205	ENSP00000356456:K162R;ENSP00000356454:K164R;ENSP00000431330:K114R;ENSP00000356453:K164R;ENSP00000356455:K112R;ENSP00000399679:K205R	ENSP00000356452:K71R	K	+	2	0	PRG4	184542088	0.996000	0.38824	0.977000	0.42913	0.392000	0.30506	3.189000	0.50965	1.626000	0.50381	0.383000	0.25322	AAG	PRG4	-	NULL	ENSG00000116690		0.343	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	-	0	35	0	A	NM_005807		186275465	1	tier1	-	no_errors	ENST00000445192	ensembl	human	known	74_37	missense	9.35	97	10	SNP	1.000	G	G	186275465	A	G	186275465	3	3	153	1	0	0	0	0	1	0	0	0	12523	72	3	4	636	4	PRG4	1	186275465	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	188724	186275465	62975156	18	38986											
CTSE	1510	genome.wustl.edu	37	chr1	206331026	206331026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttccaacccacaggacttCgtggatggaatgcagttctg	9	11	10	11	1	1	0	0	0	1	0	3	3	2	3	2	3	2	2	2	3	2	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:206331026C>T	ENST00000360218.2	+	8	994	c.890C>T	c.(889-891)tCg>tTg	p.S297L	CTSE_ENST00000361052.3_Silent_p.F349F|CTSE_ENST00000432969.2_Missense_Mutation_p.S222L|CTSE_ENST00000358184.2_Silent_p.F344F	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	cathepsin E	0					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)	p.S297L(1)|p.F344F(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CACAGGACTTCGTGGATGGAA	0.557																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)											187	183	184					1																	206331026		2203	4300	6503	SO:0001583	missense	0			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	ENST00000360218.2:c.890C>T	1.37:g.206331026C>T	ENSP00000353350:p.Ser297Leu		Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.S297L	ENST00000360218.2	37	c.890	CCDS1461.1	1	.	.	.	.	.	.	.	.	.	.	c	9.742	1.165133	0.21538	.	.	ENSG00000196188	ENST00000360218;ENST00000432969	T;T	0.64991	0.55;-0.13	4.98	-9.48	0.00591	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.32719	-0.9896	8	0.62326	D	0.03	.	2.7003	0.05146	0.1562:0.1927:0.1607:0.4905	.	222;297	B4DNU8;P14091-2	.;.	L	297;222	ENSP00000353350:S297L;ENSP00000394607:S222L	ENSP00000353350:S297L	S	+	2	0	CTSE	204497649	0.000000	0.05858	0.008000	0.14137	0.399000	0.30720	-4.309000	0.00255	-1.870000	0.01139	-0.269000	0.10298	TCG	CTSE	-	NULL	ENSG00000196188		0.557	CTSE-002	KNOWN	basic|CCDS	protein_coding	CTSE	HGNC	protein_coding	OTTHUMT00000087999.1	-	0	42	0	C	NM_001910		206331026	1	tier1	-	no_errors	ENST00000360218	ensembl	human	known	74_37	missense	36.59	26	15	SNP	0.000	T	T	206331026	C	T	206331026	3	4	153	1	0	0	0	0	1	0	0	0	4042	893	31	1	1066	1	CTSE	1	206331026	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	20055561	206331026	42919595	19	38987											
CR2	1380	genome.wustl.edu	37	chr1	207648206	207648206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaccagtgattgtcaatggGaagcacacaggcatgatggc	12	7	12	10	0	1	2	1	2	0	0	1	3	1	3	2	3	1	2	2	3	2	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:207648206G>A	ENST00000367058.3	+	13	2373	c.2184G>A	c.(2182-2184)ggG>ggA	p.G728G	CR2_ENST00000458541.2_Silent_p.G701G|CR2_ENST00000367059.3_Silent_p.G728G|CR2_ENST00000367057.3_Silent_p.G787G	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	728	Sushi 12. {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						TTGTCAATGGGAAGCACACAG	0.428																																																	0													87	97	93					1																	207648206		2202	4300	6502	SO:0001819	synonymous_variant	0			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.2184G>A	1.37:g.207648206G>A			C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G787	ENST00000367058.3	37	c.2361	CCDS1478.1	1																																																																																			CR2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117322		0.428	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1		0	20	0	G	NM_001877		207648206	1			no_errors	ENST00000367057	ensembl	human	known	74_37	silent	22.73	17	5	SNP	0.368	A	A	207648206	G	A	207648206	2	1	153	1	0	0	0	0	0	0	0	1	3849	1161	41	3		3	CR2	1	207648206	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	1317180	207648206	41602415	20	38988											
LYST	1130	genome.wustl.edu	37	chr1	235972611	235972611	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgagaatattcacatcGtctgtgcctttttcttgtac	11	16	6	8	1	3	1	1	1	2	1	4	2	3	1	1	0	2	1	1	0	5	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:235972611G>A	ENST00000389794.3	-	5	1681	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	LYST_ENST00000536965.1_Nonsense_Mutation_p.R503*|LYST_ENST00000389793.2_Nonsense_Mutation_p.R503*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	503					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)			TATTCACATCGTCTGTGCCTT	0.373																																																	0													113	112	113					1																	235972611		2203	4300	6503	SO:0001587	stop_gained	0			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.1507C>T	1.37:g.235972611G>A	ENSP00000374444:p.Arg503*		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R503*	ENST00000389794.3	37	c.1507	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.449797	0.98815	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	.	.	.	5.46	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3479	0.60584	0.0:0.0:0.7163:0.2837	.	.	.	.	X	503	.	ENSP00000374443:R503X	R	-	1	2	LYST	234039234	1.000000	0.71417	0.675000	0.29917	0.945000	0.59286	6.274000	0.72587	2.547000	0.85894	0.650000	0.86243	CGA	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0	29	0	G			235972611	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	nonsense	18.18	27	6	SNP	0.986	A	A	235972611	G	A	235972611	4	1	153	1	0	0	0	0	0	1	0	0	9164	1153	40	1	10094	1	LYST	1	235972611	Nonsense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	28324405	235972611	13278010	21	38989											
EXO1	9156	genome.wustl.edu	37	chr1	242035465	242035465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctgacctggtaaatggaCctactaacaaaaagagtgta	15	9	9	8	0	0	2	0	1	0	1	0	3	0	3	3	2	3	2	3	2	7	4	rs531242519		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:242035465C>T	ENST00000366548.3	+	12	1992	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	EXO1_ENST00000348581.5_Missense_Mutation_p.P467S|EXO1_ENST00000518483.1_Missense_Mutation_p.P467S	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	467	Interaction with MLH1.				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)			GGTAAATGGACCTACTAACAA	0.373								Editing and processing nucleases																																									0													81	81	81					1																	242035465		2203	4300	6503	SO:0001583	missense	0			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.1399C>T	1.37:g.242035465C>T	ENSP00000355506:p.Pro467Ser		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.P467S	ENST00000366548.3	37	c.1399	CCDS1620.1	1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.257274	0.00265	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.27720	1.65;1.65;1.65	5.85	2.05	0.26809	.	1.174390	0.06013	N	0.649835	T	0.15912	0.0383	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.17501	-1.0367	10	0.02654	T	1	-29.8508	9.003	0.36094	0.5184:0.3693:0.0:0.1124	.	466;467;467	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	S	467	ENSP00000355506:P467S;ENSP00000311873:P467S;ENSP00000430251:P467S	ENSP00000311873:P467S	P	+	1	0	EXO1	240102088	0.008000	0.16893	0.014000	0.15608	0.007000	0.05969	0.988000	0.29616	0.466000	0.27193	-1.051000	0.02340	CCT	EXO1	-	NULL	ENSG00000174371		0.373	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXO1	HGNC	protein_coding	OTTHUMT00000096405.1	-	0	59	0	C	NM_006027		242035465	1	tier1	-	no_errors	ENST00000348581	ensembl	human	known	74_37	missense	19.51	33	8	SNP	0.000	T	T	242035465	C	T	242035465	3	4	153	1	0	0	0	0	1	0	0	0	5316	507	18	3	1433	3	EXO1	1	242035465	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	6062854	242035465	7215156	22	38990											
CNST	163882	genome.wustl.edu	37	chr1	246755187	246755187	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgggaaaggacaaaaaaaTtcctggaaaaagaagtccaa	20	6	9	6	0	0	1	0	0	0	1	2	4	2	4	2	3	0	0	2	3	8	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:246755187T>A	ENST00000366513.4	+	2	592	c.323T>A	c.(322-324)aTt>aAt	p.I108N	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.I108N	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	108					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						GACAAAAAAATTCCTGGAAAA	0.398																																																	0													32	33	33					1																	246755187		2202	4298	6500	SO:0001583	missense	0			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.323T>A	1.37:g.246755187T>A	ENSP00000355470:p.Ile108Asn		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	NULL	p.I108N	ENST00000366513.4	37	c.323	CCDS1628.1	1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577605	0.28180	.	.	ENSG00000162852	ENST00000366513;ENST00000366512;ENST00000366511	T;T;T	0.24538	1.85;1.85;1.85	6.17	-8.63	0.00878	.	1.688010	0.02785	N	0.121366	T	0.18923	0.0454	L	0.47716	1.5	0.09310	N	1	B;P	0.37276	0.435;0.589	B;B	0.33042	0.157;0.157	T	0.41998	-0.9477	10	0.59425	D	0.04	-6.3311	8.2408	0.31658	0.1118:0.597:0.114:0.1772	.	108;108	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	N	108	ENSP00000355470:I108N;ENSP00000355469:I108N;ENSP00000355468:I108N	ENSP00000355468:I108N	I	+	2	0	CNST	244821810	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-0.757000	0.04772	-1.000000	0.03438	-0.250000	0.11733	ATT	CNST	-	NULL	ENSG00000162852		0.398	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNST	HGNC	protein_coding	OTTHUMT00000096780.1	-	0	25	0	T	NM_152609		246755187	1	tier1	-	no_errors	ENST00000366513	ensembl	human	known	74_37	missense	24.39	31	10	SNP	0.000	A	A	246755187	T	A	246755187	3	1	153	1	0	0	0	0	1	0	0	0	3641	1493	52	5	325	5	CNST	1	246755187	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	4719722	246755187	2495434	23	38991											
OR2L2	26246	genome.wustl.edu	37	chr1	248202030	248202030	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggatgataagctctatcaActcttgtgctcacacagtat	11	14	7	9	0	4	1	2	1	2	0	4	2	4	2	0	1	3	3	0	1	4	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr1:248202030A>C	ENST00000366479.2	+	1	557	c.461A>C	c.(460-462)aAc>aCc	p.N154T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, 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)			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)			AGCTCTATCAACTCTTGTGCT	0.428																																																	0													194	174	181					1																	248202030		2203	4300	6503	SO:0001583	missense	0			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.461A>C	1.37:g.248202030A>C	ENSP00000355435:p.Asn154Thr		Q2M3T5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N154T	ENST00000366479.2	37	c.461	CCDS31103.1	1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.849160	0.32699	.	.	ENSG00000203663	ENST00000366479	T	0.36699	1.24	1.9	0.477	0.16784	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35525	U	0.003146	T	0.38161	0.1030	M	0.66378	2.025	0.09310	N	1	P	0.37370	0.592	P	0.44422	0.449	T	0.29761	-1.0001	10	0.87932	D	0	.	6.4146	0.21710	0.7825:0.0:0.0:0.2175	.	154	Q8NH16	OR2L2_HUMAN	T	154	ENSP00000355435:N154T	ENSP00000355435:N154T	N	+	2	0	OR2L2	246268653	0.000000	0.05858	0.101000	0.21167	0.063000	0.16089	-0.621000	0.05559	0.746000	0.32786	0.163000	0.16589	AAC	OR2L2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000203663		0.428	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L2	HGNC	protein_coding	OTTHUMT00000096871.1	-	0	105	0	A	NM_001004686		248202030	1	tier1	-	no_errors	ENST00000366479	ensembl	human	known	74_37	missense	7.10	170	13	SNP	0.049	C	C	248202030	A	C	248202030	3	2	153	1	0	0	0	0	1	0	0	0	11046	43	2	4	463	4	OR2L2	1	248202030	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	1446843	248202030	1048591	24	38992											
SNTG2	54221	genome.wustl.edu	37	chr2	1371122	1371122	+	Missense_Mutation	SNP	A	A	G	1	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	ttttctcctccaggaactcgAgttccaggacctgagggctg	7	11	11	12	1	1	1	0	1	1	0	5	4	3	3	4	3	1	2	4	3	1	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:1371122A>G	ENST00000308624.5	+	17	1625	c.1496A>G	c.(1495-1497)gAg>gGg	p.E499G	SNTG2_ENST00000407292.1_Missense_Mutation_p.E372G	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	499					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGGAACTCGAGTTCCAGGAC	0.473																																																	0													23	21	21					2																	1371122		692	1591	2283	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1496A>G	2.37:g.1371122A>G	ENSP00000311837:p.Glu499Gly		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E499G	ENST00000308624.5	37	c.1496	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739132	0.49045	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.77358	-1.09;-1.09	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.86986	0.6065	M	0.79258	2.445	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.69479	0.964;0.722	D	0.88255	0.2919	10	0.56958	D	0.05	.	14.2285	0.65875	1.0:0.0:0.0:0.0	.	372;499	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	G	499;372	ENSP00000311837:E499G;ENSP00000385020:E372G	ENSP00000311837:E499G	E	+	2	0	SNTG2	1350129	1.000000	0.71417	0.982000	0.44146	0.030000	0.12068	8.006000	0.88564	1.824000	0.53156	0.533000	0.62120	GAG	SNTG2	-	NULL	ENSG00000172554		0.473	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0	66	0	A	NM_018968		1371122	1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	17.74	51	11	SNP	1.000	G	G	1371122	A	G	1371122	3	3	153	1	0	0	0	0	1	0	0	0	14920	304	11	4	1562	4	SNTG2	2	1371122	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09		1371122	241828251	25	38993											
NCOA1	8648	genome.wustl.edu	37	chr2	24914428	24914428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgctaattcaccctcCagatgagccagggaccgaga	12	6	11	12	1	1	3	1	1	0	2	2	6	2	5	4	2	2	1	4	2	1	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:24914428C>A	ENST00000406961.1	+	9	1263	c.611C>A	c.(610-612)cCa>cAa	p.P204Q	NCOA1_ENST00000538539.1_Missense_Mutation_p.P204Q|NCOA1_ENST00000405141.1_Missense_Mutation_p.P204Q|NCOA1_ENST00000348332.3_Missense_Mutation_p.P204Q|NCOA1_ENST00000395856.3_Missense_Mutation_p.P204Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.P204Q|NCOA1_ENST00000407230.1_Missense_Mutation_p.P53Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	204					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)	p.P204Q(2)	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)					ATTCACCCTCCAGATGAGCCA	0.443			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	2	Substitution - Missense(2)	lung(2)											147	136	140					2																	24914428		2203	4300	6503	SO:0001583	missense	0			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.611C>A	2.37:g.24914428C>A	ENSP00000385216:p.Pro204Gln		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.P204Q	ENST00000406961.1	37	c.611	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508163	0.85282	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02177	4.57;4.57;4.41;4.57;4.57;4.57;4.57	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.11922	0.0290	M	0.66939	2.045	0.80722	D	1	D;B;P;D	0.89917	1.0;0.44;0.698;0.979	D;B;P;P	0.85130	0.997;0.357;0.629;0.822	T	0.11494	-1.0585	10	0.24483	T	0.36	.	19.8132	0.96556	0.0:1.0:0.0:0.0	.	204;204;204;53	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	Q	204;204;53;204;204;204;204	ENSP00000385216:P204Q;ENSP00000385097:P204Q;ENSP00000385195:P53Q;ENSP00000444039:P204Q;ENSP00000320940:P204Q;ENSP00000288599:P204Q;ENSP00000379197:P204Q	ENSP00000288599:P204Q	P	+	2	0	NCOA1	24767932	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.983000	0.56916	2.785000	0.95823	0.655000	0.94253	CCA	NCOA1	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000084676		0.443	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3		0	29	0	C	NM_147223		24914428	1			no_errors	ENST00000348332	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	A	A	24914428	C	A	24914428	3	1	153	1	0	0	0	0	1	0	0	0	10267	594	21	3	629	3	NCOA1	2	24914428	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	23543306	24914428	218284945	26	38994											
ZNF513	130557	genome.wustl.edu	37	chr2	27600837	27600837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtgccgtttcaggttatCcagatgagcagaggcataag	10	10	13	8	1	1	3	1	1	0	2	2	3	2	3	2	3	2	4	2	3	2	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:27600837C>T	ENST00000323703.6	-	4	1399	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	ZNF513_ENST00000407879.1_Missense_Mutation_p.D339N|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	401					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGGTTATCCAGATGAGCA	0.587																																																	0													121	133	129					2																	27600837		2203	4300	6503	SO:0001583	missense	0			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"Zinc fingers, C2H2-type"	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1201G>A	2.37:g.27600837C>T	ENSP00000318373:p.Asp401Asn		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D401N	ENST00000323703.6	37	c.1201	CCDS1751.1	2	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931101	0.52866	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.07688	3.17;3.17	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000093	T	0.07999	0.0200	N	0.11154	0.105	0.48571	D	0.999676	P	0.44816	0.844	P	0.45099	0.469	T	0.31779	-0.9931	10	0.72032	D	0.01	-9.4173	17.1408	0.86752	0.0:1.0:0.0:0.0	.	401	Q8N8E2	ZN513_HUMAN	N	401;339	ENSP00000318373:D401N;ENSP00000384874:D339N	ENSP00000318373:D401N	D	-	1	0	ZNF513	27454341	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.814000	0.55643	2.633000	0.89246	0.561000	0.74099	GAT	ZNF513	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000163795		0.587	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF513	HGNC	protein_coding	OTTHUMT00000215026.2		0	53	0	C	NM_144631		27600837	-1			no_errors	ENST00000323703	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	27600837	C	T	27600837	3	4	153	1	0	0	0	0	1	0	0	0	18006	855	30	3	428	3	ZNF513	2	27600837	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	2686409	27600837	215598536	27	38995											
CLEC4F	165530	genome.wustl.edu	37	chr2	71046546	71046546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaattacggcttgcacaGgcttcggaacaggtcttgtc	9	10	11	11	2	1	1	0	0	1	1	3	2	1	2	1	4	3	3	1	4	3	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:71046546G>A	ENST00000272367.2	-	3	285	c.209C>T	c.(208-210)cCt>cTt	p.P70L	CLEC4F_ENST00000426626.1_Missense_Mutation_p.P70L	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	70					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						GGCTTGCACAGGCTTCGGAAC	0.537																																					Colon(107;10 2157 6841 26035)												0													119	101	107					2																	71046546		2203	4300	6503	SO:0001583	missense	0			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.209C>T	2.37:g.71046546G>A	ENSP00000272367:p.Pro70Leu		A4QPA5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.P70L	ENST00000272367.2	37	c.209	CCDS1910.1	2	.	.	.	.	.	.	.	.	.	.	G	8.533	0.871356	0.17322	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.01887	4.63;4.58	3.19	1.22	0.21188	.	6.784520	0.00397	N	0.000053	T	0.02970	0.0088	L	0.46157	1.445	0.09310	N	1	B;B	0.30326	0.001;0.276	B;B	0.20577	0.0;0.03	T	0.41305	-0.9516	10	0.56958	D	0.05	.	4.6521	0.12599	0.0:0.1951:0.4817:0.3233	.	70;70	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	L	70	ENSP00000272367:P70L;ENSP00000390581:P70L	ENSP00000272367:P70L	P	-	2	0	CLEC4F	70900054	0.001000	0.12720	0.000000	0.03702	0.217000	0.24651	0.447000	0.21710	0.297000	0.22615	0.305000	0.20034	CCT	CLEC4F	-	NULL	ENSG00000152672		0.537	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1	-	0	58	0	G	NM_173535		71046546	-1	tier1	-	no_errors	ENST00000272367	ensembl	human	known	74_37	missense	9.46	66	7	SNP	0.000	A	A	71046546	G	A	71046546	3	1	153	1	0	0	0	0	1	0	0	0	3523	1000	35	3	1580	3	CLEC4F	2	71046546	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	43445709	71046546	172152827	28	38996											
NAGK	55577	genome.wustl.edu	37	chr2	71305470	71305470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctggcgctgacccaGggcagagagatccaggctca	8	9	12	12	1	3	3	1	1	2	2	4	4	4	3	2	3	0	3	2	3	0	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:71305470G>T	ENST00000244204.6	+	10	929	c.867G>T	c.(865-867)caG>caT	p.Q289H	NAGK_ENST00000443938.2_Missense_Mutation_p.Q285H|NAGK_ENST00000418807.3_Missense_Mutation_p.Q238H|NAGK_ENST00000455662.2_Missense_Mutation_p.Q335H|NAGK_ENST00000443872.2_Missense_Mutation_p.Q141H			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	289					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)	CGCTGACCCAGGGCAGAGAGA	0.577																																																	0													91	76	81					2																	71305470		2203	4300	6503	SO:0001583	missense	0			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.867G>T	2.37:g.71305470G>T	ENSP00000244204:p.Gln289His		B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	pfam_ATPase_BadF	p.Q238H	ENST00000244204.6	37	c.714		2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.37|15.37|15.37	2.812708|2.812708|2.812708	0.50527|0.50527|0.50527	.|.|.	.|.|.	ENSG00000124357|ENSG00000124357|ENSG00000124357	ENST00000524537|ENST00000244204;ENST00000455662;ENST00000418807|ENST00000443938	.|T;T;T|.	.|0.46451|.	.|1.46;1.43;0.87|.	4.82|4.82|4.82	1.07|1.07|1.07	0.20283|0.20283|0.20283	.|.|.	.|1.941960|.	.|0.01773|.	.|N|.	.|0.031264|.	T|T|T	0.16896|0.16896|0.16896	0.0406|0.0406|0.0406	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.22489|0.22489|0.22489	N|N|N	0.999053|0.999053|0.999053	.|B|.	.|0.27700|.	.|0.186|.	.|B|.	.|0.23018|.	.|0.043|.	T|T|T	0.29181|0.29181|0.29181	-1.0020|-1.0020|-1.0020	5|10|5	.|0.48119|.	.|T|.	.|0.1|.	-22.8818|-22.8818|-22.8818	7.193|7.193|7.193	0.25837|0.25837|0.25837	0.4674:0.0:0.5326:0.0|0.4674:0.0:0.5326:0.0|0.4674:0.0:0.5326:0.0	.|.|.	.|289|.	.|Q9UJ70|.	.|NAGK_HUMAN|.	W|H|M	54|289;335;238|307	.|ENSP00000244204:Q289H;ENSP00000389087:Q335H;ENSP00000396070:Q238H|.	.|ENSP00000244204:Q289H|.	G|Q|R	+|+|+	1|3|2	0|2|0	NAGK|NAGK|NAGK	71158978|71158978|71158978	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.896000|0.896000|0.896000	0.35187|0.35187|0.35187	0.957000|0.957000|0.957000	0.61999|0.61999|0.61999	1.505000|1.505000|1.505000	0.35736|0.35736|0.35736	0.014000|0.014000|0.014000	0.14944|0.14944|0.14944	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGG|CAG|AGG	NAGK	-	NULL	ENSG00000124357		0.577	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	NAGK	HGNC	protein_coding	OTTHUMT00000471889.1	-	0	64	0	G			71305470	1	tier1	-	no_errors	ENST00000418807	ensembl	human	putative	74_37	missense	5.63	67	4	SNP	0.627	T	T	71305470	G	T	71305470	3	4	153	1	0	0	0	0	1	0	0	0	10180	991	35	3	1043	3	NAGK	2	71305470	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	258924	71305470	171893903	29	38997											
EGR4	1961	genome.wustl.edu	37	chr2	73519308	73519308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagttccgcagggcagctGatggacagcaagtcctcaat	10	7	13	11	1	1	1	1	1	0	0	3	2	3	2	2	3	2	6	2	3	2	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:73519308G>A	ENST00000545030.1	-	2	1121	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	EGR4_ENST00000436467.2_Silent_p.I246I	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	349	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CAGGGCAGCTGATGGACAGCA	0.652																																																	0													16	19	18					2																	73519308		2176	4282	6458	SO:0001819	synonymous_variant	0				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.1047C>T	2.37:g.73519308G>A			B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I349	ENST00000545030.1	37	c.1047	CCDS1925.2	2																																																																																			EGR4	-	NULL	ENSG00000135625		0.652	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR4	HGNC	protein_coding		-	0	54	0	G	NM_001965		73519308	-1	tier1	-	no_errors	ENST00000545030	ensembl	human	known	74_37	silent	30.43	48	21	SNP	1.000	A	A	73519308	G	A	73519308	2	1	153	1	0	0	0	0	0	0	0	1	4988	1280	45	3		3	EGR4	2	73519308	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	2213838	73519308	169680065	30	38998											
STEAP3	55240	genome.wustl.edu	37	chr2	120005349	120005349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgtggacatgggatccctggCgtcagcctgggaggtggagg	6	7	19	9	2	1	0	1	0	0	0	2	4	2	4	2	7	1	0	2	7	0	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:120005349C>T	ENST00000354888.5	+	4	1091	c.587C>T	c.(586-588)gCg>gTg	p.A196V	STEAP3_ENST00000425223.2_Missense_Mutation_p.A196V|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Missense_Mutation_p.A196V|STEAP3_ENST00000393110.2_Missense_Mutation_p.A206V|STEAP3_ENST00000393108.2_Missense_Mutation_p.A196V|STEAP3_ENST00000450943.2_Missense_Mutation_p.A196V|STEAP3_ENST00000393106.2_Missense_Mutation_p.A196V|STEAP3_ENST00000393107.2_Missense_Mutation_p.A196V	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	196					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GGATCCCTGGCGTCAGCCTGG	0.677																																																	0													47	47	47					2																	120005349		2203	4300	6503	SO:0001583	missense	0			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.587C>T	2.37:g.120005349C>T	ENSP00000346961:p.Ala196Val		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.A206V	ENST00000354888.5	37	c.617	CCDS2125.1	2	.	.	.	.	.	.	.	.	.	.	C	3.340	-0.134735	0.06711	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13	4.68	-0.713	0.11223	NAD(P)-binding domain (1);	0.497742	0.20146	N	0.098261	T	0.12390	0.0301	L	0.35723	1.085	0.09310	N	1	B;B;B	0.20887	0.049;0.023;0.001	B;B;B	0.10450	0.005;0.004;0.0	T	0.24048	-1.0171	9	.	.	.	-10.3592	6.1682	0.20402	0.0:0.4355:0.1303:0.4342	.	196;206;196	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	V	196;196;196;206;196;196;196;196	ENSP00000376820:A196V;ENSP00000346961:A196V;ENSP00000396873:A196V;ENSP00000376822:A206V;ENSP00000376818:A196V;ENSP00000386510:A196V;ENSP00000376819:A196V;ENSP00000396214:A196V	.	A	+	2	0	STEAP3	119721819	0.100000	0.21855	0.074000	0.20217	0.097000	0.18754	0.625000	0.24477	-0.028000	0.13850	-0.259000	0.10710	GCG	STEAP3	-	NULL	ENSG00000115107		0.677	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP3	HGNC	protein_coding	OTTHUMT00000254193.1	-	0	32	0	C	NM_018234		120005349	1	tier1	-	no_errors	ENST00000393110	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.009	T	T	120005349	C	T	120005349	3	4	153	1	0	0	0	0	1	0	0	0	15326	768	27	1	627	1	STEAP3	2	120005349	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	46486041	120005349	123194024	31	38999											
POTEF	728378	genome.wustl.edu	37	chr2	130832862	130832862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatggaagggaagacagccCggggggcatcgtcgcccgca	9	3	17	12	5	0	1	0	0	0	1	2	4	0	3	2	5	1	2	2	5	2	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:130832862C>T	ENST00000409914.2	-	17	2582	c.2183G>A	c.(2182-2184)cGg>cAg	p.R728Q	POTEF_ENST00000357462.5_Missense_Mutation_p.R728Q	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	728	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						GAAGACAGCCCGGGGGGCATC	0.602																																																	0													5	6	5					2																	130832862		1500	3347	4847	SO:0001583	missense	0			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.2183G>A	2.37:g.130832862C>T	ENSP00000386786:p.Arg728Gln		A6NC34	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.R728Q	ENST00000409914.2	37	c.2183	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	16.70	3.196820	0.58126	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.94862	-3.54;-3.54	.	.	.	.	.	.	.	.	D	0.95095	0.8411	M	0.79805	2.47	0.80722	D	1	D	0.56035	0.974	P	0.55749	0.783	D	0.92581	0.6074	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	728	A5A3E0	POTEF_HUMAN	Q	728	ENSP00000350052:R728Q;ENSP00000386786:R728Q	ENSP00000350052:R728Q	R	-	2	0	POTEF	130549332	1.000000	0.71417	0.038000	0.18304	0.038000	0.13279	3.715000	0.54897	0.119000	0.18210	0.121000	0.15741	CGG	POTEF	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000196604		0.602	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	-	0	95	0	C	NM_001099771		130832862	-1	tier1	-	no_errors	ENST00000357462	ensembl	human	known	74_37	missense	21.84	68	19	SNP	1.000	T	T	130832862	C	T	130832862	3	4	153	1	0	0	0	0	1	0	0	0	12304	652	23	1	1048	1	POTEF	2	130832862	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	10827513	130832862	112366511	32	39000											
LRP1B	53353	genome.wustl.edu	37	chr2	141079546	141079546	+	Missense_Mutation	SNP	T	T	C	0	1	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	acccacctaacaggctgtcaTcattgcaggtgccattaatc	11	10	7	13	0	2	0	2	0	0	0	3	0	2	0	3	2	3	2	3	2	2	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:141079546T>C	ENST00000389484.3	-	82	13597	c.12626A>G	c.(12625-12627)gAt>gGt	p.D4209G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4209					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)		CAGGCTGTCATCATTGCAGGT	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													77	84	81					2																	141079546		2203	4300	6503	SO:0001583	missense	0			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.12626A>G	2.37:g.141079546T>C	ENSP00000374135:p.Asp4209Gly		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D4209G	ENST00000389484.3	37	c.12626	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	19.31|19.31	3.803469|3.803469	0.70682|0.70682	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.90385|.	-2.66|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Growth factor, receptor (1);|.	0.063063|.	0.64402|.	D|.	0.000009|.	T|T	0.74619|0.74619	0.3740|0.3740	M|M	0.76170|0.76170	2.325|2.325	0.50039|0.50039	D|D	0.999849|0.999849	P|.	0.40000|.	0.698|.	B|.	0.39617|.	0.305|.	T|T	0.75766|0.75766	-0.3202|-0.3202	10|5	0.23302|.	T|.	0.38|.	.|.	15.3496|15.3496	0.74373|0.74373	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4209|.	Q9NZR2|.	LRP1B_HUMAN|.	G|V	4209;4147|441	ENSP00000374135:D4209G|.	ENSP00000374135:D4209G|.	D|M	-|-	2|1	0|0	LRP1B|LRP1B	140796016|140796016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.302000|7.302000	0.78861|0.78861	2.075000|2.075000	0.62263|0.62263	0.528000|0.528000	0.53228|0.53228	GAT|ATG	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000168702		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	39	0	T	NM_018557		141079546	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	C	C	141079546	T	C	141079546	3	2	153	1	0	0	0	0	1	0	0	0	8990	1435	50	4	1213	4	LRP1B	2	141079546	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	10246684	141079546	102119827	33	39001											
GCG	2641	genome.wustl.edu	37	chr2	163002170	163002170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtctctcaaattcatcgtgaCgtttggcaatgttattcctg	8	16	8	9	2	3	1	2	1	1	0	6	1	4	1	1	1	0	3	1	1	3	4	rs35920035		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:163002170C>T	ENST00000418842.2	-	4	526	c.272G>A	c.(271-273)cGt>cAt	p.R91H	GCG_ENST00000375497.3_Missense_Mutation_p.R91H	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	91		Cleavage; by PCSK1.			adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						TTCATCGTGACGTTTGGCAAT	0.413																																																	0								C	HIS/ARG	0,3784		0,0,1892	221	217	218		272	3.9	1	2	dbSNP_126	218	2,8234		0,2,4116	yes	missense	GCG	NM_002054.3	29	0,2,6008	TT,TC,CC		0.0243,0.0,0.0166	probably-damaging	91/181	163002170	2,12018	1892	4118	6010	SO:0001583	missense	0				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"Endogenous ligands"	4191	protein-coding gene	gene with protein product	"glicentin-related polypeptide", "glucagon-like peptide 1", "glucagon-like peptide 2", "preproglucagon"	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.272G>A	2.37:g.163002170C>T	ENSP00000387662:p.Arg91His		A6NN65|Q53TP6	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.R91H	ENST00000418842.2	37	c.272	CCDS46439.1	2	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537857	0.45176	0.0	2.43E-4	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.47528	0.84;0.84	4.79	3.91	0.45181	.	0.307444	0.31897	N	0.006888	T	0.35856	0.0946	L	0.31664	0.95	0.80722	D	1	B	0.28208	0.203	B	0.22386	0.039	T	0.28744	-1.0034	10	0.87932	D	0	-12.0758	13.13	0.59375	0.0:0.9216:0.0:0.0784	rs35920035	91	P01275	GLUC_HUMAN	H	91	ENSP00000387662:R91H;ENSP00000364647:R91H	ENSP00000364647:R91H	R	-	2	0	GCG	162710416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.192000	0.65115	1.141000	0.42275	0.591000	0.81541	CGT	GCG	-	NULL	ENSG00000115263		0.413	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	-	0	43	0	C	NM_002054		163002170	-1	tier1	rs35920035	no_errors	ENST00000375497	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	T	T	163002170	C	T	163002170	3	4	153	1	0	0	0	0	1	0	0	0	6315	536	19	1	282	1	GCG	2	163002170	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	21922624	163002170	80197203	34	39002											
SCN9A	6335	genome.wustl.edu	37	chr2	167089906	167089906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttaaagctctcagtgtccGaagggatttaatggggccaa	11	11	11	8	1	2	0	1	0	2	0	4	2	3	1	2	3	1	1	2	3	5	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:167089906G>A	ENST00000409435.1	-	20	3867	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	SCN9A_ENST00000375387.4_Missense_Mutation_p.R1291W|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1291W|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1279W			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1290					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)	CTCAGTGTCCGAAGGGATTTA	0.338																																																	0													48	48	48					2																	167089906		1911	4176	6087	SO:0001583	missense	0			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.3868C>T	2.37:g.167089906G>A	ENSP00000386330:p.Arg1290Trp		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R1291W	ENST00000409435.1	37	c.3871	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345477	0.82022	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000019	D	0.99645	0.9869	H	0.99966	5.095	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.97205	0.9867	10	0.87932	D	0	.	14.9028	0.70692	0.0:0.0:0.8568:0.1432	.	1279	E7EUN6	.	W	1279;1291;1291;1290	ENSP00000386306:R1279W;ENSP00000364536:R1291W;ENSP00000304748:R1291W;ENSP00000386330:R1290W	ENSP00000304748:R1291W	R	-	1	2	SCN9A	166798152	0.975000	0.34042	1.000000	0.80357	0.988000	0.76386	1.420000	0.34804	2.759000	0.94783	0.650000	0.86243	CGG	SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.338	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0	75	0	G	NM_002977		167089906	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	14.81	68	12	SNP	0.996	A	A	167089906	G	A	167089906	3	1	153	1	0	0	0	0	1	0	0	0	13970	1057	37	1	2126	1	SCN9A	2	167089906	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	4087736	167089906	76109467	35	39003											
CALCRL	10203	genome.wustl.edu	37	chr2	188211037	188211037	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgattgttgacactgtgtaAgacgcactacgaagagcttc	11	11	10	9	2	0	4	0	2	0	2	1	5	0	4	0	0	2	4	0	0	3	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:188211037A>C	ENST00000409998.1	-	16	2041	c.1260T>G	c.(1258-1260)tcT>tcG	p.S420S	CALCRL_ENST00000410068.1_Silent_p.S420S|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Silent_p.S420S			Q16602	CALRL_HUMAN	calcitonin receptor-like	420					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)			ACACTGTGTAAGACGCACTAC	0.373																																																	0													130	121	124					2																	188211037		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1260T>G	2.37:g.188211037A>C			A8K6G5|A8KAD3|Q53S02|Q53TS5	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.S420	ENST00000409998.1	37	c.1260	CCDS2293.1	2																																																																																			CALCRL	-	prints_GPCR_2_CGRP1_rcpt	ENSG00000064989		0.373	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALCRL	HGNC	protein_coding	OTTHUMT00000334648.1	-	0	39	0	A	NM_005795		188211037	-1	tier1	-	no_errors	ENST00000392370	ensembl	human	known	74_37	silent	22.95	47	14	SNP	0.957	C	C	188211037	A	C	188211037	2	2	153	1	0	0	0	0	0	0	0	1	2587	59	3	4		4	CALCRL	2	188211037	Silent	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	21121131	188211037	54988336	36	39004											
COL5A2	1290	genome.wustl.edu	37	chr2	189945770	189945770	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaatccacgagctccCtgggaggaaaacatagatag	15	5	11	10	1	0	1	0	0	0	1	2	5	2	4	3	3	2	1	3	3	5	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:189945770C>A	ENST00000374866.3	-	13	1127		c.e13-1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.?(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACGAGCTCCCTGGGAGGAAA	0.398																																																	1	Unknown(1)	lung(1)											74	84	80					2																	189945770		2203	4300	6503	SO:0001630	splice_region_variant	0			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.853-1G>T	2.37:g.189945770C>A			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	-	e13-1	ENST00000374866.3	37	c.853-1	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261966	0.59431	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2306	0.65890	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189654015	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	5.417000	0.66423	2.732000	0.93576	0.555000	0.69702	.	COL5A2	-	-	ENSG00000204262		0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1		0	49	0	C	NM_000393	Intron	189945770	-1			no_errors	ENST00000374866	ensembl	human	known	74_37	splice_site	5.00	57	3	SNP	1.000	A	A	189945770	C	A	189945770	5	1	153	1	0	0	0	0	0	0	1	0	3704	695	24	3	3815	3	COL5A2	2	189945770	Splice_Site	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	1734733	189945770	53253603	37	39005											
SATB2	23314	genome.wustl.edu	37	chr2	200245168	200245168	+	Missense_Mutation	SNP	A	A	C	1	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	aaggcattgcggactgtggcAtggttccactgctccgcagg	7	9	14	11	2	0	0	0	0	0	0	2	1	2	1	2	5	2	5	2	5	1	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:200245168A>C	ENST00000417098.1	-	5	1332	c.516T>G	c.(514-516)caT>caG	p.H172Q	SATB2_ENST00000428695.1_Intron|SATB2_ENST00000260926.5_Missense_Mutation_p.H172Q|SATB2_ENST00000443023.1_Missense_Mutation_p.H113Q|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000457245.1_Missense_Mutation_p.H172Q	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	172					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						GGACTGTGGCATGGTTCCACT	0.483																																					Colon(30;262 767 11040 24421 36230)												0													131	110	117					2																	200245168		2203	4300	6503	SO:0001583	missense	0			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.516T>G	2.37:g.200245168A>C	ENSP00000401112:p.His172Gln		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.H172Q	ENST00000417098.1	37	c.516	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286993	0.80803	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.67	-6.35	0.01975	.	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	L	0.53249	1.67	0.39871	D	0.973504	D	0.59357	0.985	P	0.61477	0.889	T	0.80400	-0.1398	10	0.35671	T	0.21	-19.3835	14.8619	0.70387	0.4635:0.0:0.5365:0.0	.	172	Q9UPW6	SATB2_HUMAN	Q	172;113;172;172	ENSP00000401112:H172Q;ENSP00000388764:H113Q;ENSP00000260926:H172Q;ENSP00000405420:H172Q	ENSP00000260926:H172Q	H	-	3	2	SATB2	199953413	0.016000	0.18221	0.902000	0.35471	0.989000	0.77384	-0.615000	0.05597	-1.218000	0.02601	-0.464000	0.05259	CAT	SATB2	-	superfamily_Lambda_DNA-bd_dom	ENSG00000119042		0.483	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	-	0	61	0	A	NM_015265		200245168	-1	tier1	-	no_errors	ENST00000260926	ensembl	human	known	74_37	missense	55.67	43	54	SNP	0.929	C	C	200245168	A	C	200245168	3	2	153	1	0	0	0	0	1	0	0	0	13899	214	8	4	1713	4	SATB2	2	200245168	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	10299398	200245168	42954205	38	39006											
CPO	130749	genome.wustl.edu	37	chr2	207834128	207834128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catctgccactatgctgctgGgcctgctggtgtcctgcatg	4	12	12	13	0	1	0	0	0	1	0	2	0	2	0	3	2	5	4	3	2	1	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:207834128G>A	ENST00000272852.3	+	9	1139	c.1093G>A	c.(1093-1095)Ggc>Agc	p.G365S		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	365						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TATGCTGCTGGGCCTGCTGGT	0.567																																																	0													127	105	113					2																	207834128		2203	4300	6503	SO:0001583	missense	0				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.1093G>A	2.37:g.207834128G>A	ENSP00000272852:p.Gly365Ser		Q2M277|Q7RTW7	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	p.G365S	ENST00000272852.3	37	c.1093	CCDS2372.1	2	.	.	.	.	.	.	.	.	.	.	g	11.37	1.619328	0.28801	.	.	ENSG00000144410	ENST00000272852	T	0.12255	2.7	5.51	-6.96	0.01622	.	1.676860	0.02558	N	0.096366	T	0.06962	0.0177	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30822	-0.9965	10	0.13108	T	0.6	.	8.696	0.34296	0.4561:0.0:0.4431:0.1008	.	365	Q8IVL8	CBPO_HUMAN	S	365	ENSP00000272852:G365S	ENSP00000272852:G365S	G	+	1	0	CPO	207542373	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.030000	0.13688	-1.533000	0.01745	-1.163000	0.01768	GGC	CPO	-	NULL	ENSG00000144410		0.567	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPO	HGNC	protein_coding	OTTHUMT00000202040.2	-	0	47	0	G	NM_173077		207834128	1	tier1	-	no_errors	ENST00000272852	ensembl	human	known	74_37	missense	9.38	58	6	SNP	0.000	A	A	207834128	G	A	207834128	3	1	153	1	0	0	0	0	1	0	0	0	3827	1232	43	3	1127	3	CPO	2	207834128	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	7588960	207834128	35365245	39	39007											
ATIC	471	genome.wustl.edu	37	chr2	216184451	216184451	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagacttgatttcaatcttaTaaggtaaaaacctgaaatta	17	13	5	6	0	2	3	1	2	1	1	2	3	2	3	1	1	1	1	1	1	8	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:216184451T>C	ENST00000236959.9	+	4	613	c.287T>C	c.(286-288)aTa>aCa	p.I96T	ATIC_ENST00000540518.1_Missense_Mutation_p.I37T|ATIC_ENST00000435675.1_Missense_Mutation_p.I95T	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	96					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	TTCAATCTTATAAGGTAAAAA	0.338			T	ALK	ALCL																																			Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	0													62	64	63					2																	216184451		2203	4300	6503	SO:0001583	missense	0				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.287T>C	2.37:g.216184451T>C	ENSP00000236959:p.Ile96Thr		A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas	p.I96T	ENST00000236959.9	37	c.287	CCDS2398.1	2	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763622	0.69878	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000413174	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	5.31	5.31	0.75309	Methylglyoxal synthase-like domain (4);	0.152912	0.64402	D	0.000018	D	0.96071	0.8720	H	0.97214	3.96	0.58432	D	0.999999	P;P	0.46277	0.791;0.875	P;D	0.78314	0.737;0.991	D	0.97392	0.9990	10	0.87932	D	0	-23.3762	15.2348	0.73419	0.0:0.0:0.0:1.0	.	95;96	E9PBU3;P31939	.;PUR9_HUMAN	T	96;37;95;37	ENSP00000236959:I96T;ENSP00000440523:I37T;ENSP00000415935:I95T;ENSP00000402393:I37T	ENSP00000236959:I96T	I	+	2	0	ATIC	215892696	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	7.093000	0.76937	2.147000	0.66899	0.533000	0.62120	ATA	ATIC	-	pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas	ENSG00000138363		0.338	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATIC	HGNC	protein_coding	OTTHUMT00000256610.1	-	0	42	0	T	NM_004044		216184451	1	tier1	-	no_errors	ENST00000236959	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	C	C	216184451	T	C	216184451	3	2	153	1	0	0	0	0	1	0	0	0	1106	1406	49	4	301	4	ATIC	2	216184451	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	8350323	216184451	27014922	40	39008											
C2orf85	285093	genome.wustl.edu	37	chr2	242813928	242813928	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgtgcacgtcctcttccaccTgtggtgggacagggccagcc	5	9	13	14	1	1	0	0	0	1	0	3	1	3	1	5	3	2	1	5	3	0	1	rs371424823		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr2:242813928T>C	ENST00000343216.3	+	2	249	c.221T>C	c.(220-222)cTg>cCg	p.L74P		NM_173821.2	NP_776182.2																					CTCTTCCACCTGTGGTGGGAC	0.687																																																	0													10	12	11					2																	242813928		1934	4127	6061	SO:0001583	missense	0																														ENST00000343216.3:c.221T>C	2.37:g.242813928T>C	ENSP00000345374:p.Leu74Pro			Missense_Mutation	SNP	NULL	p.L74P	ENST00000343216.3	37	c.221	CCDS42843.1	2	.	.	.	.	.	.	.	.	.	.	.	12.25	1.880529	0.33255	.	.	ENSG00000188011	ENST00000343216	T	0.24723	1.84	2.77	2.77	0.32553	.	.	.	.	.	T	0.30166	0.0756	N	0.22421	0.69	0.39423	D	0.966944	D	0.71674	0.998	D	0.65874	0.939	T	0.12889	-1.0530	9	0.87932	D	0	-8.1399	7.4275	0.27107	0.0:0.0:0.0:1.0	.	74	Q14D33	CB085_HUMAN	P	74	ENSP00000345374:L74P	ENSP00000345374:L74P	L	+	2	0	C2orf85	242462601	0.550000	0.26489	0.981000	0.43875	0.220000	0.24768	1.428000	0.34892	1.537000	0.49254	0.364000	0.22116	CTG	CXXC11	-	NULL	ENSG00000188011		0.687	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC11	HGNC	protein_coding	OTTHUMT00000322310.1		0	71	0	T			242813928	1			no_errors	ENST00000343216	ensembl	human	known	74_37	missense	5.45	51	3	SNP	0.984	C	C	242813928	T	C	242813928	3	2	153	1	0	0	0	0	1	0	0	0	2207	1580	55	4	227	4	C2orf85	2	242813928	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	26629477	242813928	385445	41	39009											
ATP2B2	491	genome.wustl.edu	37	chr3	10491048	10491048	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaacaggtgaggttttGaggcgccggcagatggcttc	7	10	14	10	2	1	3	1	2	0	1	2	3	1	3	2	5	1	3	2	5	1	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:10491048G>T	ENST00000352432.4	-	1	249	c.180C>A	c.(178-180)ctC>ctA	p.L60L	ATP2B2_ENST00000360273.2_Silent_p.L60L|ATP2B2_ENST00000383800.4_Silent_p.L60L|ATP2B2_ENST00000343816.4_Silent_p.L60L|ATP2B2_ENST00000397077.1_Silent_p.L60L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	60					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						GTGAGGTTTTGAGGCGCCGGC	0.552																																					Ovarian(125;1619 1709 15675 19819 38835)												0													70	66	67					3																	10491048		2203	4300	6503	SO:0001819	synonymous_variant	0			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.180C>A	3.37:g.10491048G>T			O00766|Q12994|Q16818	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.L60	ENST00000352432.4	37	c.180	CCDS33701.1	3																																																																																			ATP2B2	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N	ENSG00000157087		0.552	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	-	0	41	0	G	NM_001683		10491048	-1	tier1	-	no_errors	ENST00000352432	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	T	T	10491048	G	T	10491048	2	4	153	1	0	0	0	0	0	0	0	1	1141	1277	45	3		3	ATP2B2	3	10491048	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09		10491048	187531382	42	39010											
ZNF385D	79750	genome.wustl.edu	37	chr3	21467136	21467136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	agtgccacttccattccgggCttctaacatggttttgtgct	6	15	9	11	1	1	0	0	0	1	0	3	0	3	0	3	2	3	3	3	2	1	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:21467136C>A	ENST00000281523.2	-	6	1218	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	234						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						CCATTCCGGGCTTCTAACATG	0.458																																																	0													92	86	88					3																	21467136		2203	4300	6503	SO:0001583	missense	0			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.700G>T	3.37:g.21467136C>A	ENSP00000281523:p.Ala234Ser			Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.A234S	ENST00000281523.2	37	c.700	CCDS2636.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.594654	0.96602	.	.	ENSG00000151789	ENST00000281523	T	0.44083	0.93	5.46	5.46	0.80206	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	M	0.68952	2.095	0.58432	D	0.999998	D	0.76494	0.999	D	0.73708	0.981	T	0.57854	-0.7739	10	0.31617	T	0.26	-9.4399	19.6421	0.95762	0.0:1.0:0.0:0.0	.	234	Q9H6B1	Z385D_HUMAN	S	234	ENSP00000281523:A234S	ENSP00000281523:A234S	A	-	1	0	ZNF385D	21442140	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.742000	0.85008	2.709000	0.92574	0.563000	0.77884	GCC	ZNF385D	-	smart_Znf_U1	ENSG00000151789		0.458	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	HGNC	protein_coding	OTTHUMT00000252884.1	-	0	58	0	C	NM_024697		21467136	-1	tier1	-	no_errors	ENST00000281523	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	A	A	21467136	C	A	21467136	3	1	153	1	0	0	0	0	1	0	0	0	17926	797	28	3	499	3	ZNF385D	3	21467136	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	10976088	21467136	176555294	43	39011											
SEMA3G	56920	genome.wustl.edu	37	chr3	52478966	52478966	+	Frame_Shift_Del	DEL	G	G	-																															aggcggggcacactggggccGgggctggggccagagctacc																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:52478966delG	ENST00000231721.2	-	1	77	c.78delC	c.(76-78)cccfs	p.P26fs		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	26					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CACTGGGGCCGGGGCTGGGGC	0.677																																																	0													9	14	12					3																	52478966		1929	3837	5766	SO:0001589	frameshift_variant	0				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.78delC	3.37:g.52478966delG	ENSP00000231721:p.Pro26fs		Q7L9D9|Q9H7Q3	Frame_Shift_Del	DEL	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.G27fs	ENST00000231721.2	37	c.78	CCDS2856.1	3																																																																																			SEMA3G	-	NULL	ENSG00000010319		0.677	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1		0	20	0	G	NM_020163		52478966	-1	tier1		no_errors	ENST00000231721	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.000	-	-	52478966	G	-	52478966	7	5	153	1	0	1	0	1	0	0	0	0	14075	1103	39	0	2334	0	SEMA3G	3	52478966	Frame_Shift_Del	DEL	G	TCGA-S8-A6BV-01A-21D-A31U-09	31011830	52478966	145543464	44	39012											
NT5DC2	64943	genome.wustl.edu	37	chr3	52563311	52563311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttgttggcgtagatggctGctgggttcaggagactgcag	6	11	17	7	2	1	2	1	0	0	2	1	3	1	2	0	4	2	7	0	4	1	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:52563311G>A	ENST00000307076.4	-	2	561	c.161C>T	c.(160-162)gCa>gTa	p.A54V	NT5DC2_ENST00000490681.1_5'UTR|NT5DC2_ENST00000307092.4_Missense_Mutation_p.A20V|NT5DC2_ENST00000459839.1_Missense_Mutation_p.A91V|NT5DC2_ENST00000422318.2_Missense_Mutation_p.A91V	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	54							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GTAGATGGCTGCTGGGTTCAG	0.597																																																	0													173	146	155					3																	52563311		2203	4300	6503	SO:0001583	missense	0			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.161C>T	3.37:g.52563311G>A	ENSP00000302468:p.Ala54Val		C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.A91V	ENST00000307076.4	37	c.272	CCDS2858.1	3	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141841	0.57044	.	.	ENSG00000168268	ENST00000307092;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.38	4.47	0.54385	HAD-like domain (1);	0.296681	0.37809	N	0.001933	T	0.10680	0.0261	N	0.08118	0	0.32169	N	0.581933	B;B;B	0.34103	0.243;0.417;0.437	B;B;B	0.30716	0.119;0.093;0.09	T	0.10474	-1.0628	10	0.31617	T	0.26	-12.5184	13.2128	0.59834	0.0:0.0:0.7138:0.2862	.	91;54;91	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	V	20;54;91;91	ENSP00000306017:A20V;ENSP00000302468:A54V;ENSP00000406933:A91V;ENSP00000419547:A91V	ENSP00000302468:A54V	A	-	2	0	NT5DC2	52538351	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.294000	0.65687	2.512000	0.84698	0.555000	0.69702	GCA	NT5DC2	-	superfamily_HAD-like_dom,pirsf_Pur_nucleotidase	ENSG00000168268		0.597	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	HGNC	protein_coding	OTTHUMT00000351509.1	-	0	65	0	G	NM_022908		52563311	-1	tier1	-	no_errors	ENST00000422318	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.663	A	A	52563311	G	A	52563311	3	1	153	1	0	0	0	0	1	0	0	0	10730	1319	46	3	1453	3	NT5DC2	3	52563311	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	84345	52563311	145459119	45	39013											
DZIP3	9666	genome.wustl.edu	37	chr3	108353773	108353773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttatttccataaaatttGctggaaaaagttcaagaatt	15	16	6	4	0	1	1	1	0	0	1	2	2	2	2	1	1	1	3	1	1	7	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:108353773G>T	ENST00000361582.3	+	10	1102	c.872G>T	c.(871-873)tGc>tTc	p.C291F	DZIP3_ENST00000463306.1_Missense_Mutation_p.C291F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	291					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						CATAAAATTTGCTGGAAAAAG	0.313																																																	0													70	75	74					3																	108353773		2201	4295	6496	SO:0001583	missense	0			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.872G>T	3.37:g.108353773G>T	ENSP00000355028:p.Cys291Phe		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.C291F	ENST00000361582.3	37	c.872	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	g	16.99	3.274390	0.59649	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.40756	1.02;1.02;1.02	5.08	5.08	0.68730	.	0.000000	0.56097	D	0.000024	T	0.49201	0.1543	N	0.19112	0.55	0.41908	D	0.990454	D;P	0.76494	0.999;0.481	D;B	0.83275	0.996;0.355	T	0.54057	-0.8350	10	0.87932	D	0	-9.4169	13.8419	0.63444	0.0:0.0:1.0:0.0	.	291;291	C9J9M8;Q86Y13	.;DZIP3_HUMAN	F	291	ENSP00000355028:C291F;ENSP00000418115:C291F;ENSP00000419981:C291F	ENSP00000355028:C291F	C	+	2	0	DZIP3	109836463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	TGC	DZIP3	-	NULL	ENSG00000198919		0.313	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	-	0	111	0	G	NM_014648		108353773	1	tier1	-	no_errors	ENST00000361582	ensembl	human	known	74_37	missense	12.37	85	12	SNP	1.000	T	T	108353773	G	T	108353773	3	4	153	1	0	0	0	0	1	0	0	0	4879	1319	46	3	906	3	DZIP3	3	108353773	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	55790462	108353773	89668657	46	39014											
SIDT1	54847	genome.wustl.edu	37	chr3	113327302	113327302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacactttggtctcttctacGctatgggcattgcattgatg	8	15	9	9	1	2	1	0	1	2	0	3	1	2	1	0	2	3	3	0	2	3	6	rs144146634		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:113327302G>A	ENST00000264852.4	+	17	2365	c.1639G>A	c.(1639-1641)Gct>Act	p.A547T	SIDT1_ENST00000393830.3_Missense_Mutation_p.A547T|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	547					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						TCTCTTCTACGCTATGGGCAT	0.423																																																	0								G	THR/ALA	0,4406		0,0,2203	222	208	213		1639	5.8	1	3	dbSNP_134	213	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIDT1	NM_017699.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	547/828	113327302	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1639G>A	3.37:g.113327302G>A	ENSP00000264852:p.Ala547Thr		Q17RR4	Missense_Mutation	SNP	NULL	p.A547T	ENST00000264852.4	37	c.1639	CCDS2974.1	3	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559567	0.86335	0.0	1.16E-4	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.31247	1.5;1.5	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000005	T	0.32436	0.0829	L	0.47190	1.495	0.53688	D	0.999979	P;P	0.49447	0.907;0.924	B;P	0.45856	0.362;0.495	T	0.01702	-1.1292	10	0.34782	T	0.22	-11.8929	13.2717	0.60164	0.0721:0.0:0.9279:0.0	.	547;547	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	T	547	ENSP00000264852:A547T;ENSP00000377416:A547T	ENSP00000264852:A547T	A	+	1	0	SIDT1	114809992	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.610000	0.74178	2.740000	0.93945	0.650000	0.86243	GCT	SIDT1	-	NULL	ENSG00000072858		0.423	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	HGNC	protein_coding	OTTHUMT00000317564.1	-	0	90	0	G	NM_017699		113327302	1	tier1	-	no_errors	ENST00000393830	ensembl	human	known	74_37	missense	18.18	81	18	SNP	1.000	A	A	113327302	G	A	113327302	3	1	153	1	0	0	0	0	1	0	0	0	14347	1087	38	1	1705	1	SIDT1	3	113327302	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	4973529	113327302	84695128	47	39015											
GAP43	2596	genome.wustl.edu	37	chr3	115342544	115342544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacgagacaaccatgctgtGctgtatgagaagaaccaaac	15	6	11	9	1	0	3	0	1	0	3	0	6	0	4	2	1	5	3	2	1	5	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:115342544G>T	ENST00000305124.6	+	1	374	c.8G>T	c.(7-9)tGc>tTc	p.C3F	GAP43_ENST00000393780.3_5'UTR	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	3	Important for membrane binding.				axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ACCATGCTGTGCTGTATGAGA	0.448																																																	0													209	192	197					3																	115342544		2203	4300	6503	SO:0001583	missense	0				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.8G>T	3.37:g.115342544G>T	ENSP00000305010:p.Cys3Phe		A8K0Y4	Missense_Mutation	SNP	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin	p.C3F	ENST00000305124.6	37	c.8	CCDS33830.1	3	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194718	0.38806	.	.	ENSG00000172020	ENST00000305124	T	0.43294	0.95	4.33	4.33	0.51752	Neuromodulin gap junction N-terminal (1);	.	.	.	.	T	0.54046	0.1834	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.56189	-0.8020	9	0.48119	T	0.1	.	16.9916	0.86355	0.0:0.0:1.0:0.0	.	3	P17677	NEUM_HUMAN	F	3	ENSP00000305010:C3F	ENSP00000305010:C3F	C	+	2	0	GAP43	116825234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.118000	0.89577	2.235000	0.73313	0.557000	0.71058	TGC	GAP43	-	pfam_Neuromodulin_gap-junction_N,prints_Neuromodulin	ENSG00000172020		0.448	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2		0	38	0	G	NM_002045		115342544	1			no_errors	ENST00000305124	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	115342544	G	T	115342544	3	4	153	1	0	0	0	0	1	0	0	0	6260	1319	46	3	10	3	GAP43	3	115342544	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	2015242	115342544	82679886	48	39016											
ZIC4	84107	genome.wustl.edu	37	chr3	147108838	147108838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagccgaatcgtagccagagCtgggcggcggcgagcgcccg	7	4	17	13	7	0	1	0	0	0	1	1	3	0	1	3	3	4	2	3	3	3	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:147108838C>T	ENST00000383075.3	-	4	1396	c.884G>A	c.(883-885)aGc>aAc	p.S295N	ZIC4_ENST00000525172.2_Missense_Mutation_p.S345N|ZIC4_ENST00000473123.1_Missense_Mutation_p.S295N|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.S295N|ZIC4_ENST00000491672.1_Missense_Mutation_p.S89N|ZIC4_ENST00000425731.3_Missense_Mutation_p.S333N	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	295						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTAGCCAGAGCTGGGCGGCGG	0.687																																																	0													33	41	38					3																	147108838		2180	4284	6464	SO:0001583	missense	0			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.884G>A	3.37:g.147108838C>T	ENSP00000372553:p.Ser295Asn		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S345N	ENST00000383075.3	37	c.1034	CCDS43160.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.389584	0.95988	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.12879	2.7;2.64;2.64;2.7;2.7;2.75	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000037	T	0.20495	0.0493	M	0.75085	2.285	0.43088	D	0.994756	P;B	0.37824	0.609;0.209	B;B	0.33690	0.168;0.097	T	0.29579	-1.0007	9	0.56958	D	0.05	.	18.4032	0.90525	0.0:1.0:0.0:0.0	.	345;295	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	N	295;333;345;295;295;89	ENSP00000372553:S295N;ENSP00000397695:S333N;ENSP00000435509:S345N;ENSP00000417855:S295N;ENSP00000420775:S295N;ENSP00000418277:S89N	ENSP00000372553:S295N	S	-	2	0	ZIC4	148591528	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.758000	0.62220	2.337000	0.79520	0.462000	0.41574	AGC	ZIC4	-	NULL	ENSG00000174963		0.687	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1	-	0	56	0	C			147108838	-1	tier1	-	no_errors	ENST00000525172	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	T	T	147108838	C	T	147108838	3	4	153	1	0	0	0	0	1	0	0	0	17729	797	28	3	128	3	ZIC4	3	147108838	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	31766294	147108838	50913592	49	39017											
WWTR1	25937	genome.wustl.edu	37	chr3	149260151	149260151	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctcctcttggcgcattcGaatcctttctctctccatct	5	15	6	15	2	4	0	0	0	4	0	9	2	6	0	3	1	1	2	3	1	1	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:149260151G>A	ENST00000465804.1	-	5	998	c.742C>T	c.(742-744)Cga>Tga	p.R248*	WWTR1_ENST00000467467.1_Nonsense_Mutation_p.R248*|WWTR1_ENST00000360632.3_Nonsense_Mutation_p.R248*	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	248					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)	p.R248*(1)		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)			TGGCGCATTCGAATCCTTTCT	0.567			T	CAMTA1	epitheliod hemangioendothelioma																																			Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	1	Substitution - Nonsense(1)	large_intestine(1)											127	112	117					3																	149260151		2203	4300	6503	SO:0001587	stop_gained	0			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.742C>T	3.37:g.149260151G>A	ENSP00000419465:p.Arg248*		D3DNH7|Q8N3P2|Q9Y3W6	Nonsense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.R248*	ENST00000465804.1	37	c.742	CCDS3144.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.559674	0.97663	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	.	.	.	5.26	-6.86	0.01676	.	0.132373	0.43919	D	0.000515	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4219	23.0233	0.99978	0.0:0.0:0.1691:0.8309	.	.	.	.	X	248;248;248;106	.	ENSP00000353847:R248X	R	-	1	2	WWTR1	150742841	0.002000	0.14202	0.011000	0.14972	0.995000	0.86356	-1.029000	0.03585	-1.698000	0.01418	-0.274000	0.10170	CGA	WWTR1	-	NULL	ENSG00000018408		0.567	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWTR1	HGNC	protein_coding	OTTHUMT00000356498.1		0	70	0	G	NM_015472		149260151	-1			no_errors	ENST00000360632	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.024	A	A	149260151	G	A	149260151	4	1	153	1	0	0	0	0	0	1	0	0	17466	1066	37	1	476	1	WWTR1	3	149260151	Nonsense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	2151313	149260151	48762279	50	39018											
IGSF10	285313	genome.wustl.edu	37	chr3	151163489	151163489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaaagtctgagtacttGcttgggctagttcttcaatc	8	16	8	9	0	5	1	2	1	3	0	6	1	5	1	0	1	2	4	0	1	4	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:151163489G>A	ENST00000282466.3	-	4	4279	c.4280C>T	c.(4279-4281)gCa>gTa	p.A1427V		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	1427					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)			CTGAGTACTTGCTTGGGCTAG	0.403																																																	0													172	163	166					3																	151163489		2203	4300	6503	SO:0001583	missense	0			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.4280C>T	3.37:g.151163489G>A	ENSP00000282466:p.Ala1427Val		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.A1427V	ENST00000282466.3	37	c.4280	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	9.792	1.178219	0.21787	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.67865	-0.29	5.32	-1.04	0.10068	.	1.001480	0.08057	N	0.997566	T	0.35770	0.0943	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22941	-1.0202	10	0.13470	T	0.59	.	5.4812	0.16725	0.361:0.0:0.3855:0.2535	.	1427	Q6WRI0	IGS10_HUMAN	V	1427;54	ENSP00000282466:A1427V	ENSP00000282466:A1427V	A	-	2	0	IGSF10	152646179	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.121000	0.10643	0.324000	0.23333	-0.300000	0.09419	GCA	IGSF10	-	NULL	ENSG00000152580		0.403	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1		0	107	0	G	NM_178822		151163489	-1			no_errors	ENST00000282466	ensembl	human	known	74_37	missense	5.05	94	5	SNP	0.000	A	A	151163489	G	A	151163489	3	1	153	1	0	0	0	0	1	0	0	0	7624	1319	46	3	3651	3	IGSF10	3	151163489	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	1903338	151163489	46858941	51	39019											
PLD1	5337	genome.wustl.edu	37	chr3	171455451	171455452	+	Splice_Site	INS	-	-	A																															cagagaaagggatatacactINSaaaaaaaaaagtaaataaag																								rs545683379|rs71178233		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:171455451_171455452insA	ENST00000351298.4	-	3	287		c.e3-2		PLD1_ENST00000356327.5_Splice_Site|PLD1_ENST00000340989.4_Splice_Site|PLD1_ENST00000342215.6_Splice_Site	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						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)	GGATATACACTAAAAAAAAAAG	0.327																																					NSCLC(149;2174 3517 34058)												0																																										SO:0001630	splice_region_variant	0			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.161-2->T	3.37:g.171455461_171455461dupA				Splice_Site	INS	-	e2-2	ENST00000351298.4	37	c.161-3_161-2	CCDS3216.1	3																																																																																			PLD1	-	-	ENSG00000075651		0.327	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2		0	20	0	-	NM_002662	Intron	171455452	-1	tier1		no_errors	ENST00000351298	ensembl	human	known	74_37	splice_site_ins	15.00	17	3	INS	0.999:0.901	A	A	171455452	-	A	171455451	8	5	153	1	0	1	1	0	0	0	1	0	12084	1536	53	0	3165	0	PLD1	3	171455451	Splice_Site	INS	-	TCGA-S8-A6BV-01A-21D-A31U-09	20291962	171455451	26566979	52	39020											
ABCC5	10057	genome.wustl.edu	37	chr3	183665251	183665251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccaccgcatcgcacacGtaaacaaaaaaaaaggagct	18	3	7	13	3	0	0	0	0	0	0	1	1	0	1	3	1	3	4	3	1	6	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:183665251G>A	ENST00000334444.6	-	23	3515	c.3275C>T	c.(3274-3276)aCg>aTg	p.T1092M	ABCC5_ENST00000265586.6_Missense_Mutation_p.T1049M	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1092	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)	CATCGCACACGTAAACAAAAA	0.532																																																	0													52	62	58					3																	183665251		1996	4169	6165	SO:0001583	missense	0			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.3275C>T	3.37:g.183665251G>A	ENSP00000333926:p.Thr1092Met		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.T1092M	ENST00000334444.6	37	c.3275	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991431	0.35131	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.82803	-1.65;-1.65	5.53	5.53	0.82687	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.138997	0.64402	D	0.000007	T	0.62514	0.2434	N	0.03000	-0.44	0.35197	D	0.773939	B;B	0.17667	0.004;0.023	B;B	0.12156	0.007;0.004	T	0.65446	-0.6166	10	0.33940	T	0.23	-14.9056	9.9651	0.41719	0.0:0.1884:0.6809:0.1307	.	1049;1092	Q86UX3;O15440	.;MRP5_HUMAN	M	1092;1049	ENSP00000333926:T1092M;ENSP00000265586:T1049M	ENSP00000265586:T1049M	T	-	2	0	ABCC5	185147945	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	3.964000	0.56780	2.607000	0.88179	0.655000	0.94253	ACG	ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000114770		0.532	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1		0	21	0	G	NM_005688		183665251	-1			no_errors	ENST00000334444	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	A	A	183665251	G	A	183665251	3	1	153	1	0	0	0	0	1	0	0	0	56	1145	40	1	1070	1	ABCC5	3	183665251	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	12209800	183665251	14357179	53	39021											
TRA2B	6434	genome.wustl.edu	37	chr3	185637260	185637262	+	In_Frame_Del	DEL	TCC	TCC	-																															ctgtcttgggcagctctccaTcctcctcctcctccacctcc																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr3:185637260_185637262delTCC	ENST00000453386.2	-	7	1020_1022	c.745_747delGGA	c.(745-747)ggadel	p.G249del	TRA2B_ENST00000382191.4_In_Frame_Del_p.G149del	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	249	Arg/Ser-rich (RS2 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CAGCTCTCCAtcctcctcctcct	0.404																																																	0																																										SO:0001651	inframe_deletion	0			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.745_747delGGA	3.37:g.185637269_185637271delTCC	ENSP00000416959:p.Gly249del		B4DVK2|D3DNU3|O15449|Q15815|Q64283	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G249in_frame_del	ENST00000453386.2	37	c.747_745	CCDS33905.1	3																																																																																			TRA2B	-	NULL	ENSG00000136527		0.404	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1		0	60	0	TCC	NM_004593		185637262	-1	tier1		no_errors	ENST00000453386	ensembl	human	known	74_37	in_frame_del	8.11	34	3	DEL	1.000:1.000:1.000	-	-	185637262	TCC	-	185637260	7	5	153	1	0	1	0	1	0	0	0	0	16482	1422	50	0	131	0	TRA2B	3	185637260	In_Frame_Del	DEL	TCC	TCGA-S8-A6BV-01A-21D-A31U-09	1972009	185637260	12385170	54	39022											
ZNF721	170960	genome.wustl.edu	37	chr4	436778	436778	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctcgccagtatgaatcCtcttatgtttagcaaagctt	9	16	7	9	1	2	1	0	1	2	0	4	1	3	1	2	0	2	5	2	0	5	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr4:436778C>G	ENST00000338977.5	-	2	1490	c.1442G>C	c.(1441-1443)aGg>aCg	p.R481T	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.R493T|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	481					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						AGTATGAATCCTCTTATGTTT	0.373																																																	0													77	83	81					4																	436778		2073	4237	6310	SO:0001583	missense	0			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.1442G>C	4.37:g.436778C>G	ENSP00000340524:p.Arg481Thr		Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R493T	ENST00000338977.5	37	c.1478		4	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505847	0.26949	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.25414	1.8;1.8	0.71	0.71	0.18157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39358	0.1075	L	0.58510	1.815	0.09310	N	1	D;D;D	0.71674	0.998;0.995;0.993	D;D;D	0.78314	0.991;0.987;0.977	T	0.13176	-1.0519	9	0.66056	D	0.02	.	3.8304	0.08871	0.4222:0.5778:1.0E-4:0.0	.	481;493;493	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	T	481;493	ENSP00000340524:R481T;ENSP00000428878:R493T	ENSP00000340524:R481T	R	-	2	0	ZNF721	426778	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-1.463000	0.02361	0.677000	0.31305	0.194000	0.17425	AGG	ZNF721	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182903		0.373	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	-	0	74	0	C	NM_133474		436778	-1	tier1	-	no_errors	ENST00000511833	ensembl	human	known	74_37	missense	21.28	74	20	SNP	0.180	G	G	436778	C	G	436778	3	3	153	1	0	0	0	0	1	0	0	0	18170	681	24	5	1297	5	ZNF721	4	436778	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09		436778	190717498	55	39023											
FAM193A	8603	genome.wustl.edu	37	chr4	2664632	2664632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatttatccattgagtaatTatgatgataccgaggtggtg	12	15	10	4	1	0	3	0	3	0	0	1	4	1	3	2	2	1	1	2	2	5	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr4:2664632T>C	ENST00000324666.5	+	9	1291	c.940T>C	c.(940-942)Tat>Cat	p.Y314H	FAM193A_ENST00000502458.1_Missense_Mutation_p.Y336H|FAM193A_ENST00000545951.1_Missense_Mutation_p.Y314H|FAM193A_ENST00000505311.1_Missense_Mutation_p.Y314H|FAM193A_ENST00000382839.3_Missense_Mutation_p.Y314H	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	314										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						ATTGAGTAATTATGATGATAC	0.453																																																	0													173	169	170					4																	2664632		2203	4300	6503	SO:0001583	missense	0			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.940T>C	4.37:g.2664632T>C	ENSP00000324587:p.Tyr314His		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.Y314H	ENST00000324666.5	37	c.940	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	T	17.38	3.374136	0.61735	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.45668	0.91;1.3;0.89;0.9;0.89	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	L	0.56769	1.78	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;0.998;0.999	T	0.64424	-0.6411	10	0.87932	D	0	-26.0487	15.5887	0.76506	0.0:0.0:0.0:1.0	.	314;336;314;336;314	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	H	314;314;314;336;168	ENSP00000372290:Y314H;ENSP00000324587:Y314H;ENSP00000443617:Y314H;ENSP00000427505:Y336H;ENSP00000427260:Y168H	ENSP00000324587:Y314H	Y	+	1	0	FAM193A	2634430	1.000000	0.71417	0.981000	0.43875	0.167000	0.22549	7.142000	0.77339	2.275000	0.75901	0.528000	0.53228	TAT	FAM193A	-	NULL	ENSG00000125386		0.453	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1		0	37	0	T	NM_003704		2664632	1			no_errors	ENST00000324666	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	C	C	2664632	T	C	2664632	3	2	153	1	0	0	0	0	1	0	0	0	5543	1754	61	4	966	4	FAM193A	4	2664632	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	2227854	2664632	188489644	56	39024											
FAM193A	8603	genome.wustl.edu	37	chr4	2692599	2692599	+	Frame_Shift_Del	DEL	C	C	-																															agcaaataaagttgtcatggCcacgtcatcagccacgtcct																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr4:2692599delC	ENST00000324666.5	+	13	2183	c.1832delC	c.(1831-1833)gccfs	p.A611fs	FAM193A_ENST00000502458.1_Frame_Shift_Del_p.A633fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.A611fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.A611fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.A611fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	611										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						GTTGTCATGGCCACGTCATCA	0.453																																																	0													106	99	101					4																	2692599		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1832delC	4.37:g.2692599delC	ENSP00000324587:p.Ala611fs		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Del	DEL	NULL	p.T612fs	ENST00000324666.5	37	c.1832	CCDS58875.1	4																																																																																			FAM193A	-	NULL	ENSG00000125386		0.453	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1		0	18	0	C	NM_003704		2692599	1	tier1		no_errors	ENST00000324666	ensembl	human	known	74_37	frame_shift_del	18.18	27	6	DEL	1.000	-	-	2692599	C	-	2692599	7	5	153	1	0	1	0	1	0	0	0	0	5543	739	26	0	1874	0	FAM193A	4	2692599	Frame_Shift_Del	DEL	C	TCGA-S8-A6BV-01A-21D-A31U-09	27967	2692599	188461677	57	39025											
RGS12	6002	genome.wustl.edu	37	chr4	3319104	3319104	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattgagggcatgcgggccCgcgcctttctggacggggac	5	8	17	11	4	1	2	0	2	1	0	1	4	1	4	2	5	1	1	2	5	0	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr4:3319104C>G	ENST00000344733.5	+	2	2111	c.1207C>G	c.(1207-1209)Cgc>Ggc	p.R403G	RGS12_ENST00000336727.3_Missense_Mutation_p.R403G|RGS12_ENST00000543385.1_Missense_Mutation_p.R403G|RGS12_ENST00000382788.3_Missense_Mutation_p.R403G	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	403					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)		CATGCGGGCCCGCGCCTTTCT	0.607																																																	0													60	63	62					4																	3319104		2203	4300	6503	SO:0001583	missense	0			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.1207C>G	4.37:g.3319104C>G	ENSP00000339381:p.Arg403Gly		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.R403G	ENST00000344733.5	37	c.1207	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404738	0.62288	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.35048	1.33;1.44;1.44;1.44	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	M	0.62154	1.92	0.80722	D	1	P;D;D	0.67145	0.938;0.989;0.996	P;P;D	0.64877	0.676;0.754;0.93	T	0.55392	-0.8148	10	0.72032	D	0.01	-30.6435	10.7841	0.46395	0.3072:0.6928:0.0:0.0	.	403;403;403	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	G	403	ENSP00000440566:R403G;ENSP00000339381:R403G;ENSP00000338509:R403G;ENSP00000372238:R403G	ENSP00000338509:R403G	R	+	1	0	RGS12	3288902	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	2.970000	0.49240	2.171000	0.68590	0.491000	0.48974	CGC	RGS12	-	NULL	ENSG00000159788		0.607	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1		0	33	0	C	NM_002926		3319104	1			no_errors	ENST00000344733	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	G	G	3319104	C	G	3319104	3	3	153	1	0	0	0	0	1	0	0	0	13340	652	23	5	1209	5	RGS12	4	3319104	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	626505	3319104	187835172	58	39026											
JAKMIP1	152789	genome.wustl.edu	37	chr4	6037791	6037791	+	Missense_Mutation	SNP	T	T	C	0	1	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	cggccctccgccccggctccTgctgcagcgctgtgtacagt	3	8	12	18	4	0	0	0	0	0	0	2	0	2	0	5	2	4	5	5	2	1	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr4:6037791T>C	ENST00000409021.3	-	19	2668	c.2219A>G	c.(2218-2220)cAg>cGg	p.Q740R	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.Q555R	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	97					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCCGGCTCCTGCTGCAGCGC	0.637																																																	0													9	11	10					4																	6037791		2002	4120	6122	SO:0001583	missense	0			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2219A>G	4.37:g.6037791T>C	ENSP00000386711:p.Gln740Arg		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	NULL	p.Q740R	ENST00000409021.3	37	c.2219	CCDS47005.1	4	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735268	0.69189	.	.	ENSG00000152969	ENST00000409021;ENST00000409371	T;T	0.33865	1.81;1.39	4.79	3.62	0.41486	.	0.000000	0.42172	U	0.000747	T	0.24314	0.0589	.	.	.	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.12156	0.006;0.007	T	0.04737	-1.0930	9	0.23891	T	0.37	.	9.3546	0.38159	0.0:0.0846:0.0:0.9154	.	555;740	Q96N16-5;Q96N16-2	.;.	R	740;555	ENSP00000386711:Q740R;ENSP00000387042:Q555R	ENSP00000386711:Q740R	Q	-	2	0	JAKMIP1	6088692	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	4.679000	0.61649	0.706000	0.31912	0.358000	0.22013	CAG	JAKMIP1	-	NULL	ENSG00000152969		0.637	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000329747.1	-	0	61	0	T	NM_144720		6037791	-1	tier1	-	no_errors	ENST00000409021	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	C	C	6037791	T	C	6037791	3	2	153	1	0	0	0	0	1	0	0	0	7967	1580	55	4	288	4	JAKMIP1	4	6037791	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	2718687	6037791	185116485	59	39027											
MAN2B2	23324	genome.wustl.edu	37	chr4	6612647	6612647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcggccttcatggaggatgGcaaaagcaggcttgtgttgc	8	10	15	8	1	1	0	1	0	0	0	2	2	1	2	1	5	2	4	1	5	2	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr4:6612647G>A	ENST00000285599.3	+	14	2336	c.2300G>A	c.(2299-2301)gGc>gAc	p.G767D	MAN2B2_ENST00000504248.1_Missense_Mutation_p.G716D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	767					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						ATGGAGGATGGCAAAAGCAGG	0.582																																																	0													159	140	146					4																	6612647		2203	4300	6503	SO:0001583	missense	0			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.2300G>A	4.37:g.6612647G>A	ENSP00000285599:p.Gly767Asp		Q66MP2|Q86T67	Missense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.G767D	ENST00000285599.3	37	c.2300	CCDS33951.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.004|0.004	-2.274010|-2.274010	0.00257|0.00257	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|T;T	.|0.78924	.|-1.22;-1.22	4.88|4.88	-7.56|-7.56	0.01322|0.01322	.|Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	.|1.431980	.|0.03989	.|N	.|0.294582	T|T	0.48466|0.48466	0.1501|0.1501	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.08055	.|0.003;0.003;0.001	T|T	0.55736|0.55736	-0.8094|-0.8094	5|10	.|0.02654	.|T	.|1	-1.3199|-1.3199	10.5378|10.5378	0.45016|0.45016	0.7013:0.1011:0.1976:0.0|0.7013:0.1011:0.1976:0.0	.|.	.|716;767;767	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	T|D	766|767;716	.|ENSP00000285599:G767D;ENSP00000423129:G716D	.|ENSP00000285599:G767D	A|G	+|+	1|2	0|0	MAN2B2|MAN2B2	6663548|6663548	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-0.097000|-0.097000	0.11042|0.11042	-1.773000|-1.773000	0.01290|0.01290	-1.149000|-1.149000	0.01842|0.01842	GCA|GGC	MAN2B2	-	pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom	ENSG00000013288		0.582	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	-	0	58	0	G	NM_015274		6612647	1	tier1	-	no_errors	ENST00000285599	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.000	A	A	6612647	G	A	6612647	3	1	153	1	0	0	0	0	1	0	0	0	9255	1203	42	3	2354	3	MAN2B2	4	6612647	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	574856	6612647	184541629	60	39028											
LPHN3	23284	genome.wustl.edu	37	chr4	62758482	62758482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccccgtcagtgtcaggaaGaagaaaccggagtactagta	14	6	11	10	2	2	2	2	0	0	2	2	4	2	4	3	2	2	2	3	2	6	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr4:62758482G>A	ENST00000514591.1	+	9	1714	c.1385G>A	c.(1384-1386)aGa>aAa	p.R462K	LPHN3_ENST00000508693.1_Missense_Mutation_p.R530K|LPHN3_ENST00000509896.1_Missense_Mutation_p.R530K|LPHN3_ENST00000512091.2_Missense_Mutation_p.R462K|LPHN3_ENST00000506700.1_Missense_Mutation_p.R462K|LPHN3_ENST00000514996.1_Missense_Mutation_p.R462K|LPHN3_ENST00000514157.1_Missense_Mutation_p.R462K|LPHN3_ENST00000506720.1_Missense_Mutation_p.R530K|LPHN3_ENST00000504896.1_Missense_Mutation_p.R462K|LPHN3_ENST00000545650.1_Missense_Mutation_p.R462K|LPHN3_ENST00000506746.1_Missense_Mutation_p.R530K|LPHN3_ENST00000507625.1_Missense_Mutation_p.R530K|LPHN3_ENST00000508946.1_Missense_Mutation_p.R462K|LPHN3_ENST00000507164.1_Missense_Mutation_p.R530K|LPHN3_ENST00000511324.1_Missense_Mutation_p.R530K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	462					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						GTGTCAGGAAGAAGAAACCGG	0.542																																																	0													122	118	119					4																	62758482		2024	4171	6195	SO:0001583	missense	0			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.1385G>A	4.37:g.62758482G>A	ENSP00000422533:p.Arg462Lys		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.R530K	ENST00000514591.1	37	c.1589	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241536	0.39598	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.83	5.83	0.93111	.	0.131761	0.51477	D	0.000083	T	0.47783	0.1464	N	0.24115	0.695	0.40621	D	0.981769	B;B	0.31817	0.118;0.341	B;B	0.27500	0.017;0.08	T	0.48281	-0.9049	10	0.38643	T	0.18	.	14.7	0.69150	0.0:0.1445:0.8555:0.0	.	462;462	E9PE04;Q9HAR2-2	.;.	K	462;462;530;530;462;462;462;462;462;530;530;530;462;462;462;530;530;462	ENSP00000423388:R462K;ENSP00000422533:R462K;ENSP00000423787:R530K;ENSP00000425033:R530K;ENSP00000424120:R462K;ENSP00000439831:R462K;ENSP00000421476:R530K;ENSP00000424030:R530K;ENSP00000421372:R530K;ENSP00000425201:R462K;ENSP00000423434:R462K;ENSP00000421627:R462K;ENSP00000420931:R530K;ENSP00000425884:R530K;ENSP00000424258:R462K	ENSP00000280009:R462K	R	+	2	0	LPHN3	62441077	1.000000	0.71417	0.990000	0.47175	0.662000	0.39071	4.126000	0.57937	2.763000	0.94921	0.563000	0.77884	AGA	LPHN3	-	NULL	ENSG00000150471		0.542	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	-	0	37	0	G			62758482	1	tier1	-	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	A	A	62758482	G	A	62758482	3	1	153	1	0	0	0	0	1	0	0	0	8952	942	33	3	1411	3	LPHN3	4	62758482	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	56145835	62758482	128395794	61	39029											
PTPN13	5783	genome.wustl.edu	37	chr4	87672182	87672182	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccttttccctcttcagttCaaagtctgttgcgagtttaa	7	18	6	10	1	4	0	2	0	2	0	6	1	6	0	2	0	1	3	2	0	2	8			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr4:87672182C>G	ENST00000411767.2	+	19	3134	c.3071C>G	c.(3070-3072)tCa>tGa	p.S1024*	PTPN13_ENST00000427191.2_Nonsense_Mutation_p.S1024*|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.S1024*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.S1024*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1024					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)		CTCTTCAGTTCAAAGTCTGTT	0.368																																																	0													61	59	59					4																	87672182		1831	4070	5901	SO:0001587	stop_gained	0				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.3071C>G	4.37:g.87672182C>G	ENSP00000407249:p.Ser1024*		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S1024*	ENST00000411767.2	37	c.3071	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	C	45	11.822618	0.99607	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	6.01	6.01	0.97437	.	0.000000	0.42294	D	0.000738	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	.	.	.	X	1024;1024;1024;1024;992	.	ENSP00000349909:S992X	S	+	2	0	PTPN13	87891206	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.128000	0.57951	2.861000	0.98227	0.650000	0.86243	TCA	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13	ENSG00000163629		0.368	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	-	0	41	0	C			87672182	1	tier1	-	no_errors	ENST00000436978	ensembl	human	known	74_37	nonsense	23.53	26	8	SNP	1.000	G	G	87672182	C	G	87672182	4	3	153	1	0	0	0	0	0	1	0	0	12825	838	29	5	3141	5	PTPN13	4	87672182	Nonsense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	24913700	87672182	103482094	62	39030											
MTTP	4547	genome.wustl.edu	37	chr4	100521876	100521876	+	Silent	SNP	C	C	T																															ctcatcccaatgaagaactcCtgagagccctcattgtaagt																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr4:100521876C>T	ENST00000265517.5	+	9	1425	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	MTTP_ENST00000511045.1_Silent_p.L435L|MTTP_ENST00000457717.1_Silent_p.L408L|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	408	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)	TGAAGAACTCCTGAGAGCCCT	0.358																																																	0													54	56	56					4																	100521876		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1222C>T	4.37:g.100521876C>T			A8K428|Q08AM4|Q6P5T3	Silent	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L408	ENST00000265517.5	37	c.1222	CCDS3651.1	4																																																																																			MTTP	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	ENSG00000138823		0.358	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	-	0	43	0	C			100521876	1	tier1	-	no_errors	ENST00000265517	ensembl	human	known	74_37	silent	20.00	32	8	SNP	1.000	T	T	100521876	C	T	100521876	2	4	153	1	0	0	0	0	0	0	0	1	10002	680	24	3		3	MTTP	4	100521876	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	12849694	100521876	90632400	63	39031	137	2									
MTTP	4547	genome.wustl.edu	37	chr4	100521881	100521881	+	Missense_Mutation	SNP	A	A	C																															cccaatgaagaactcctgagAgccctcattgtaagtcaaat																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr4:100521881A>C	ENST00000265517.5	+	9	1430	c.1227A>C	c.(1225-1227)agA>agC	p.R409S	MTTP_ENST00000511045.1_Missense_Mutation_p.R436S|MTTP_ENST00000457717.1_Missense_Mutation_p.R409S|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	409	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)	AACTCCTGAGAGCCCTCATTG	0.363																																																	0													50	53	52					4																	100521881		2203	4300	6503	SO:0001583	missense	0				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.1227A>C	4.37:g.100521881A>C	ENSP00000265517:p.Arg409Ser		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.R409S	ENST00000265517.5	37	c.1227	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	A	11.76	1.733731	0.30684	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.69175	-0.38;-0.38;-0.38	4.86	3.68	0.42216	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.438358	0.26224	N	0.025615	T	0.57066	0.2028	L	0.48362	1.52	0.34478	D	0.703603	B;B	0.13145	0.007;0.002	B;B	0.18561	0.022;0.01	T	0.59247	-0.7490	10	0.30078	T	0.28	-39.2633	10.3807	0.44110	0.9224:0.0:0.0776:0.0	.	436;409	E9PBP6;P55157	.;MTP_HUMAN	S	436;409;409;409	ENSP00000427679:R436S;ENSP00000400821:R409S;ENSP00000265517:R409S	ENSP00000265517:R409S	R	+	3	2	MTTP	100740904	1.000000	0.71417	0.964000	0.40570	0.932000	0.56968	2.820000	0.48057	0.698000	0.31739	0.533000	0.62120	AGA	MTTP	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	ENSG00000138823		0.363	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	-	0	41	0	A			100521881	1	tier1	-	no_errors	ENST00000265517	ensembl	human	known	74_37	missense	19.51	33	8	SNP	0.954	C	C	100521881	A	C	100521881	3	2	153	1	0	0	0	0	1	0	0	0	10002	301	11	4	1261	4	MTTP	4	100521881	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	5	100521881	90632395	64	39032	137	2									
C4orf21	55345	genome.wustl.edu	37	chr4	113508884	113508884	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggctcaatgctaaacGaaagaactgctgacttttca	13	10	7	11	1	3	2	3	1	0	1	3	3	3	2	1	1	4	3	1	1	5	3	rs201097479		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr4:113508884G>T	ENST00000505019.1	-	12	3454	c.3329C>A	c.(3328-3330)tCg>tAg	p.S1110*		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1110						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATGCTAAACGAAAGAACTGC	0.408																																																	0													36	32	33					4																	113508884		692	1591	2283	SO:0001587	stop_gained	0																														ENST00000505019.1:c.3329C>A	4.37:g.113508884G>T	ENSP00000424737:p.Ser1110*		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Nonsense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.S1110*	ENST00000505019.1	37	c.3329		4	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347100	0.82022	.	.	ENSG00000138658	ENST00000505019	.	.	.	5.95	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.35947	D	0.833664	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6099	0.51053	0.0861:0.0:0.9139:0.0	.	.	.	.	X	1110	.	ENSP00000404365:S8X	S	-	2	0	C4orf21	113728333	0.132000	0.22450	0.002000	0.10522	0.016000	0.09150	3.241000	0.51376	1.438000	0.47492	-0.345000	0.07892	TCG	C4orf21	-	NULL	ENSG00000138658		0.408	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	-	0	40	0	G			113508884	-1	tier1	-	no_errors	ENST00000505019	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	0.008	T	T	113508884	G	T	113508884	4	4	153	1	0	0	0	0	0	1	0	0	2261	1059	37	2	3053	2	C4orf21	4	113508884	Nonsense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	12987003	113508884	77645392	65	39033											
TRAM1L1	133022	genome.wustl.edu	37	chr4	118005745	118005745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaacccaacagtgagtaCggaaacaattaaagtcacaa	19	6	8	8	1	1	2	1	2	0	0	1	3	1	3	1	1	4	1	1	1	8	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr4:118005745C>T	ENST00000310754.4	-	1	991	c.805G>A	c.(805-807)Gta>Ata	p.V269I		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	269	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						ACAGTGAGTACGGAAACAATT	0.438																																																	0													72	68	69					4																	118005745		2203	4300	6503	SO:0001583	missense	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.805G>A	4.37:g.118005745C>T	ENSP00000309402:p.Val269Ile		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.V269I	ENST00000310754.4	37	c.805	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	C	5.756	0.323818	0.10900	.	.	ENSG00000174599	ENST00000310754	D	0.84298	-1.83	3.75	-0.175	0.13315	TRAM/LAG1/CLN8 homology domain (3);	0.270936	0.35067	N	0.003473	T	0.81795	0.4898	M	0.68317	2.08	0.23693	N	0.997097	B	0.28801	0.223	B	0.34301	0.179	T	0.73610	-0.3928	10	0.59425	D	0.04	-22.4129	8.2496	0.31708	0.4351:0.4237:0.1412:0.0	.	269	Q8N609	TR1L1_HUMAN	I	269	ENSP00000309402:V269I	ENSP00000309402:V269I	V	-	1	0	TRAM1L1	118225193	0.390000	0.25213	0.000000	0.03702	0.019000	0.09904	0.973000	0.29422	-0.074000	0.12820	0.655000	0.94253	GTA	TRAM1L1	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	ENSG00000174599		0.438	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	-	0	20	0	C	NM_152402		118005745	-1	tier1	-	no_errors	ENST00000310754	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.008	T	T	118005745	C	T	118005745	3	4	153	1	0	0	0	0	1	0	0	0	16500	536	19	1	308	1	TRAM1L1	4	118005745	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	4496861	118005745	73148531	66	39034											
SLC12A7	10723	genome.wustl.edu	37	chr5	1078124	1078125	+	Splice_Site	INS	-	-	GCAG																															tgcagggcctccccgaacctINSgcaggcaggcgggcaggcgg																								rs369273236|rs369196468|rs200032397	byFrequency	TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:1078124_1078125insGCAG	ENST00000264930.5	-	12	1498		c.e12-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						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)	TCCCCGAACCTgcaggcaggcg	0.673														58	0.0115815	0.0159	0.0144	5008	,	,		15824	0		0.0209	False		,,,				2504	0.0061																0										94,3970		14,66,1952						3.5	1			11	265,7685		24,217,3734	no	splice-3	SLC12A7	NM_006598.2		38,283,5686	A1A1,A1R,RR		3.3333,2.313,2.9882				359,11655				SO:0001630	splice_region_variant	0			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.1455-2->CTGC	5.37:g.1078129_1078132dupGCAG			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Splice_Site	INS	-	e12-2	ENST00000264930.5	37	c.1455-3_1455-2	CCDS34129.1	5																																																																																			SLC12A7	-	-	ENSG00000113504		0.673	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2		0	8	0	-	NM_006598	Intron	1078125	-1	tier1		no_errors	ENST00000264930	ensembl	human	known	74_37	splice_site_ins	33.33	4	2	INS	1.000:0.971	GCAG	GCAG	1078125	-	GCAG	1078124	8	5	153	1	0	1	1	0	0	0	1	0	14433	1594	55	0	1850	0	SLC12A7	5	1078124	Splice_Site	INS	-	TCGA-S8-A6BV-01A-21D-A31U-09		1078124	179837136	67	39035											
SLC6A19	340024	genome.wustl.edu	37	chr5	1213683	1213683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatcgtcttcctcttcacgCccaacgtaagtccccgaggc	7	9	8	17	4	3	0	1	0	2	0	6	1	5	0	4	1	1	2	4	1	2	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:1213683C>G	ENST00000304460.10	+	5	825	c.769C>G	c.(769-771)Ccc>Gcc	p.P257A		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	257					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)			CCTCTTCACGCCCAACGTAAG	0.652																																																	0													97	64	75					5																	1213683		2203	4299	6502	SO:0001583	missense	0			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.769C>G	5.37:g.1213683C>G	ENSP00000305302:p.Pro257Ala		A8K446	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.P257A	ENST00000304460.10	37	c.769	CCDS34130.1	5	.	.	.	.	.	.	.	.	.	.	c	17.30	3.353899	0.61293	.	.	ENSG00000174358	ENST00000304460	T	0.80566	-1.39	4.87	4.87	0.63330	.	0.105669	0.64402	D	0.000003	D	0.91825	0.7413	M	0.92507	3.315	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.93881	0.7171	10	0.87932	D	0	.	16.214	0.82191	0.0:1.0:0.0:0.0	.	257	Q695T7	S6A19_HUMAN	A	257	ENSP00000305302:P257A	ENSP00000305302:P257A	P	+	1	0	SLC6A19	1266683	1.000000	0.71417	0.943000	0.38184	0.086000	0.17979	7.279000	0.78599	2.263000	0.75096	0.466000	0.42574	CCC	SLC6A19	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000174358		0.652	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1	-	0	72	0	C	XM_291120		1213683	1	tier1	-	no_errors	ENST00000304460	ensembl	human	known	74_37	missense	18.31	58	13	SNP	1.000	G	G	1213683	C	G	1213683	3	3	153	1	0	0	0	0	1	0	0	0	14727	739	26	5	787	5	SLC6A19	5	1213683	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	135559	1213683	179701577	68	39036											
SLC6A3	6531	genome.wustl.edu	37	chr5	1416295	1416295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggagaagcacacctGggtggccgcgtcaatccaaa	11	4	13	13	2	1	1	1	0	0	1	2	2	2	1	4	3	1	1	4	3	3	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:1416295G>T	ENST00000270349.9	-	7	1076	c.949C>A	c.(949-951)Cag>Aag	p.Q317K	SLC6A3_ENST00000453492.2_Missense_Mutation_p.Q317K	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	317					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AAGCACACCTGGGTGGCCGCG	0.622																																																	0													75	68	70					5																	1416295		2203	4300	6503	SO:0001583	missense	0				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.949C>A	5.37:g.1416295G>T	ENSP00000270349:p.Gln317Lys		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.Q317K	ENST00000270349.9	37	c.949	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230987	0.79688	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	D;D;D	0.81579	-1.51;-1.51;-1.51	3.88	3.88	0.44766	.	0.128561	0.53938	D	0.000052	D	0.93874	0.8040	H	0.99487	4.59	0.54753	D	0.999986	D	0.71674	0.998	D	0.74023	0.982	D	0.96021	0.9009	10	0.87932	D	0	.	13.7023	0.62616	0.0:0.0:1.0:0.0	.	317	Q01959	SC6A3_HUMAN	K	317;317;243	ENSP00000270349:Q317K;ENSP00000399806:Q317K;ENSP00000429101:Q243K	ENSP00000270349:Q317K	Q	-	1	0	SLC6A3	1469295	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	8.814000	0.91968	1.891000	0.54761	0.561000	0.74099	CAG	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000142319		0.622	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	-	0	33	0	G	NM_001044		1416295	-1	tier1	-	no_errors	ENST00000270349	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	1416295	G	T	1416295	3	4	153	1	0	0	0	0	1	0	0	0	14730	1357	47	3	949	3	SLC6A3	5	1416295	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	202612	1416295	179498965	69	39037											
IRX1	79192	genome.wustl.edu	37	chr5	3600242	3600242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgcgctccttcctgggcGttggcgctccccacgccgcg	3	8	12	18	6	0	0	0	0	0	0	3	0	3	0	5	2	1	3	5	2	0	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:3600242G>A	ENST00000302006.3	+	2	1232	c.1180G>A	c.(1180-1182)Gtt>Att	p.V394I	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	394					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTTCCTGGGCGTTGGCGCTCC	0.657																																																	0													48	47	47					5																	3600242		2202	4300	6502	SO:0001583	missense	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1180G>A	5.37:g.3600242G>A	ENSP00000305244:p.Val394Ile		Q7Z2F8|Q8N312	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.V394I	ENST00000302006.3	37	c.1180	CCDS34132.1	5	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149723	0.37923	.	.	ENSG00000170549	ENST00000302006	T	0.59502	0.26	4.17	4.17	0.49024	.	0.145888	0.44285	D	0.000476	T	0.70395	0.3219	L	0.57536	1.79	0.52099	D	0.999947	D	0.76494	0.999	D	0.72982	0.979	T	0.67711	-0.5600	10	0.22706	T	0.39	.	16.4849	0.84182	0.0:0.0:1.0:0.0	.	394	P78414	IRX1_HUMAN	I	394	ENSP00000305244:V394I	ENSP00000305244:V394I	V	+	1	0	IRX1	3653242	1.000000	0.71417	0.818000	0.32626	0.004000	0.04260	7.072000	0.76777	1.834000	0.53371	0.467000	0.42956	GTT	IRX1	-	NULL	ENSG00000170549		0.657	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1		0	17	0	G	NM_024337		3600242	1			no_errors	ENST00000302006	ensembl	human	known	74_37	missense	35.29	11	6	SNP	1.000	A	A	3600242	G	A	3600242	3	1	153	1	0	0	0	0	1	0	0	0	7870	1145	40	1	1186	1	IRX1	5	3600242	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	2183947	3600242	177315018	70	39038											
KIAA0947	23379	genome.wustl.edu	37	chr5	5457453	5457453	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tcccccacatagaaaaacctGccaaagcaatcaccagctcc	15	5	4	17	0	1	1	1	0	0	1	3	1	3	1	6	0	4	2	6	0	5	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:5457453G>A	ENST00000296564.7	+	12	922	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		234					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						AGAAAAACCTGCCAAAGCAAT	0.428																																																	0													35	35	35					5																	5457453		1965	4159	6124	SO:0001583	missense	0																														ENST00000296564.7:c.700G>A	5.37:g.5457453G>A	ENSP00000296564:p.Ala234Thr		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.A234T	ENST00000296564.7	37	c.700	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	8.491	0.862052	0.17178	.	.	ENSG00000164151	ENST00000296564	T	0.10382	2.88	5.14	2.34	0.29019	.	0.508601	0.19914	N	0.103230	T	0.06325	0.0163	N	0.19112	0.55	0.22330	N	0.999196	B	0.25563	0.129	B	0.27715	0.082	T	0.36720	-0.9736	10	0.33141	T	0.24	-3.7942	5.072	0.14611	0.1775:0.0:0.6579:0.1645	.	234	Q9Y2F5	K0947_HUMAN	T	234	ENSP00000296564:A234T	ENSP00000296564:A234T	A	+	1	0	KIAA0947	5510453	0.990000	0.36364	0.537000	0.28052	0.102000	0.19082	1.158000	0.31737	0.182000	0.20032	-0.320000	0.08662	GCC	KIAA0947	-	NULL	ENSG00000164151		0.428	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1		0	29	0	G			5457453	1			no_errors	ENST00000296564	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.975	A	A	5457453	G	A	5457453	3	1	153	1	0	0	0	0	1	0	0	0	8229	1319	46	3	746	3	KIAA0947	5	5457453	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	1857211	5457453	175457807	71	39039											
KIAA0947	23379	genome.wustl.edu	37	chr5	5464411	5464411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccactgtctccactgatatCgagttctagtccttcctcac	7	13	6	15	1	3	1	1	1	2	0	7	2	5	1	4	0	0	1	4	0	2	4	rs61736810	byFrequency	TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:5464411C>T	ENST00000296564.7	+	13	5186	c.4964C>T	c.(4963-4965)tCg>tTg	p.S1655L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1655	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCACTGATATCGAGTTCTAGT	0.567													C|||	46	0.0091853	0.0325	0.0043	5008	,	,		17794	0		0	False		,,,				2504	0																0								C	LEU/SER	114,3996		1,112,1942	185	193	191		4964	5	0	5	dbSNP_129	191	2,8398		0,2,4198	yes	missense	KIAA0947	NM_015325.1	145	1,114,6140	TT,TC,CC		0.0238,2.7737,0.9273	benign	1655/2267	5464411	116,12394	2055	4200	6255	SO:0001583	missense	0																														ENST00000296564.7:c.4964C>T	5.37:g.5464411C>T	ENSP00000296564:p.Ser1655Leu		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.S1655L	ENST00000296564.7	37	c.4964	CCDS47187.1	5	17	0.007783882783882784	15	0.03048780487804878	2	0.0055248618784530384	0	0.0	0	0.0	C	19.15	3.772123	0.69992	0.027737	2.38E-4	ENSG00000164151	ENST00000296564	T	0.14516	2.5	4.96	4.96	0.65561	.	.	.	.	.	T	0.08537	0.0212	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	P	0.55824	0.785	T	0.02294	-1.1181	9	0.59425	D	0.04	-1.3045	15.6902	0.77446	0.0:1.0:0.0:0.0	rs61736810	1655	Q9Y2F5	K0947_HUMAN	L	1655	ENSP00000296564:S1655L	ENSP00000296564:S1655L	S	+	2	0	KIAA0947	5517411	0.137000	0.22531	0.005000	0.12908	0.629000	0.37895	3.245000	0.51407	2.282000	0.76494	0.460000	0.39030	TCG	KIAA0947	-	NULL	ENSG00000164151		0.567	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1		0	17	0	C			5464411	1			no_errors	ENST00000296564	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.054	T	T	5464411	C	T	5464411	3	4	153	1	0	0	0	0	1	0	0	0	8229	893	31	1	5014	1	KIAA0947	5	5464411	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	6958	5464411	175450849	72	39040											
CCT5	22948	genome.wustl.edu	37	chr5	10262705	10262705	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgctgagatatcctgtgcccTggcagttagccaagaggcgg	8	9	14	10	1	0	2	0	1	0	2	1	3	1	2	3	3	3	3	3	3	3	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:10262705T>C	ENST00000280326.4	+	9	1712	c.1292T>C	c.(1291-1293)cTg>cCg	p.L431P	CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000515676.1_Missense_Mutation_p.L393P|CCT5_ENST00000506600.1_Missense_Mutation_p.L338P|CCT5_ENST00000503026.1_Missense_Mutation_p.L410P|CCT5_ENST00000515390.1_Missense_Mutation_p.L376P	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	431					'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						TCCTGTGCCCTGGCAGTTAGC	0.542																																																	0													158	131	140					5																	10262705		2203	4300	6503	SO:0001583	missense	0			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.1292T>C	5.37:g.10262705T>C	ENSP00000280326:p.Leu431Pro		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.L431P	ENST00000280326.4	37	c.1292	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628308	0.87560	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.91747	0.7390	H	0.96720	3.87	0.80722	D	1	P;P;D;D;D	0.61697	0.889;0.944;0.99;0.99;0.99	D;D;D;D;D	0.77557	0.925;0.963;0.99;0.99;0.99	D	0.94213	0.7460	10	0.72032	D	0.01	-17.9864	14.4046	0.67073	0.0:0.0:0.0:1.0	.	338;376;429;431;431	B4DYD8;E7ENZ3;Q9BU08;A8K2X8;P48643	.;.;.;.;TCPE_HUMAN	P	431;410;376;404;393;338	ENSP00000280326:L431P;ENSP00000423318:L410P;ENSP00000426923:L376P;ENSP00000427297:L393P;ENSP00000423052:L338P	ENSP00000280326:L431P	L	+	2	0	CCT5	10315705	1.000000	0.71417	0.802000	0.32245	0.982000	0.71751	7.587000	0.82613	2.045000	0.60652	0.456000	0.33151	CTG	CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi	ENSG00000150753		0.542	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	-	0	90	0	T			10262705	1	tier1	-	no_errors	ENST00000280326	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.997	C	C	10262705	T	C	10262705	3	2	153	1	0	0	0	0	1	0	0	0	2963	1580	55	4	1326	4	CCT5	5	10262705	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	4798294	10262705	170652555	73	39041											
WDR70	55100	genome.wustl.edu	37	chr5	37443453	37443453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttcttttaaggcatttcGatcccttcagccctgtgagt	6	16	8	11	1	2	1	1	1	1	0	4	2	3	1	2	1	2	2	2	1	1	5	rs112033041		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:37443453G>A	ENST00000265107.4	+	7	821	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	WDR70_ENST00000504564.1_Missense_Mutation_p.R222Q	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	222							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)			AAGGCATTTCGATCCCTTCAG	0.423																																																	0													175	151	159					5																	37443453		2203	4300	6503	SO:0001583	missense	0			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.665G>A	5.37:g.37443453G>A	ENSP00000265107:p.Arg222Gln		Q9H053	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R222Q	ENST00000265107.4	37	c.665	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	g	24.8	4.570683	0.86542	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.89270	-0.53;-2.49	4.91	4.04	0.47022	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.132141	0.49305	D	0.000148	D	0.94722	0.8297	M	0.88310	2.945	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;P	0.76575	0.988;0.886	D	0.94830	0.7995	10	0.51188	T	0.08	-1.9515	13.7419	0.62853	0.075:0.0:0.925:0.0	.	222;222	D6RIW8;Q9NW82	.;WDR70_HUMAN	Q	222	ENSP00000265107:R222Q;ENSP00000425841:R222Q	ENSP00000265107:R222Q	R	+	2	0	WDR70	37479210	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.610000	0.82949	1.216000	0.43427	-0.320000	0.08662	CGA	WDR70	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000082068		0.423	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1		0	63	0	G	NM_018034		37443453	1			no_errors	ENST00000265107	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	37443453	G	A	37443453	3	1	153	1	0	0	0	0	1	0	0	0	17370	1058	37	1	691	1	WDR70	5	37443453	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	27180748	37443453	143471807	74	39042											
VCAN	1462	genome.wustl.edu	37	chr5	82836373	82836373	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tcatatgagaggtccacagaCggtagtttccaagaccgttt	11	11	10	9	2	1	3	1	1	0	3	3	4	3	3	3	2	0	3	3	2	3	4	rs77870162	byFrequency	TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:82836373C>T	ENST00000265077.3	+	8	8116	c.7551C>T	c.(7549-7551)gaC>gaT	p.D2517D	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Silent_p.D1530D	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2517	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGTCCACAGACGGTAGTTTCC	0.433													C|||	5	0.000998403	8e-04	0.0029	5008	,	,		19682	0.001		0.001	False		,,,				2504	0																0								C	,,,	4,4402	8.1+/-20.4	0,4,2199	59	59	59		,4590,,7551	-2.3	0.3	5	dbSNP_131	59	14,8586	10.5+/-38.8	0,14,4286	no	intron,coding-synonymous,intron,coding-synonymous	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,,,	0,18,6485	TT,TC,CC		0.1628,0.0908,0.1384	,,,	,1530/2410,,2517/3397	82836373	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	0			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.7551C>T	5.37:g.82836373C>T			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.D2517	ENST00000265077.3	37	c.7551	CCDS4060.1	5																																																																																			VCAN	-	NULL	ENSG00000038427		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3		0	21	0	C	NM_004385		82836373	1			no_errors	ENST00000265077	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.246	T	T	82836373	C	T	82836373	2	4	153	1	0	0	0	0	0	0	0	1	17187	535	19	1		1	VCAN	5	82836373	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	45392920	82836373	98078887	75	39043											
PJA2	9867	genome.wustl.edu	37	chr5	108704338	108704338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcaggttcattctcatCttttcctggcagagtctccc	6	15	7	13	0	5	1	3	0	3	1	8	1	6	1	2	2	1	3	2	2	1	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:108704338C>A	ENST00000361189.2	-	5	1632	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	PJA2_ENST00000361557.3_Missense_Mutation_p.D465Y	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	465					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)		TCATTCTCATCTTTTCCTGGC	0.423																																																	0													170	171	170					5																	108704338		2202	4300	6502	SO:0001583	missense	0			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.1393G>T	5.37:g.108704338C>A	ENSP00000354775:p.Asp465Tyr		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D465Y	ENST00000361189.2	37	c.1393	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639339	0.67244	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05996	3.36;3.36	5.39	5.39	0.77823	.	0.143821	0.48286	D	0.000184	T	0.20333	0.0489	L	0.53249	1.67	0.46458	D	0.999051	D	0.89917	1.0	D	0.72982	0.979	T	0.00014	-1.2403	10	0.87932	D	0	-31.3992	14.7387	0.69437	0.0:0.8564:0.1436:0.0	.	465	O43164	PJA2_HUMAN	Y	465	ENSP00000354775:D465Y;ENSP00000355284:D465Y	ENSP00000354775:D465Y	D	-	1	0	PJA2	108732237	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.501000	0.53325	2.809000	0.96659	0.467000	0.42956	GAT	PJA2	-	NULL	ENSG00000198961		0.423	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1		0	42	0	C	NM_014819		108704338	-1			no_errors	ENST00000361189	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	108704338	C	A	108704338	3	1	153	1	0	0	0	0	1	0	0	0	12001	913	32	3	757	3	PJA2	5	108704338	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	25867965	108704338	72210922	76	39044											
APC	324	genome.wustl.edu	37	chr5	112175496	112175496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttgagagtcgttcgattgCcagctccgttcagagtgaac	8	13	11	9	3	1	3	1	2	0	2	4	5	2	3	2	0	3	3	2	0	1	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:112175496C>T	ENST00000457016.1	+	16	4585	c.4205C>T	c.(4204-4206)gCc>gTc	p.A1402V	APC_ENST00000508376.2_Missense_Mutation_p.A1402V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A1402V			P25054	APC_HUMAN	adenomatous polyposis coli	1402	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.Y1376fs*41(1)|p.?(1)|p.K1192fs*3(1)|p.I1401fs*2(1)|p.A1402fs*6(1)|p.S1400fs*5(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)		CGTTCGATTGCCAGCTCCGTT	0.478		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"	6	Deletion - Frameshift(5)|Unknown(1)	large_intestine(4)|soft_tissue(1)|skin(1)											114	106	109					5																	112175496		2202	4300	6502	SO:0001583	missense	0	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.4205C>T	5.37:g.112175496C>T	ENSP00000413133:p.Ala1402Val		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A1402V	ENST00000457016.1	37	c.4205	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756850	0.89843	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90732	-2.72;-2.72;-2.72	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93657	0.7974	L	0.45137	1.4	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.91778	0.5433	9	.	.	.	-11.4535	20.4898	0.99202	0.0:1.0:0.0:0.0	.	1404;1402	Q4LE70;P25054	.;APC_HUMAN	V	1402	ENSP00000413133:A1402V;ENSP00000257430:A1402V;ENSP00000427089:A1402V	.	A	+	2	0	APC	112203395	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GCC	APC	-	NULL	ENSG00000134982		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	12	0	C	NM_000038		112175496	1			no_errors	ENST00000257430	ensembl	human	known	74_37	missense	13.33	13	2	SNP	1.000	T	T	112175496	C	T	112175496	3	4	153	1	0	0	0	0	1	0	0	0	763	739	26	3	4263	3	APC	5	112175496	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	3471158	112175496	68739764	77	39045											
HARS2	23438	genome.wustl.edu	37	chr5	140075409	140075409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaatcctaagtggattgcaGttgggagactttctcattaa	12	13	10	6	0	1	1	1	0	1	1	3	4	2	2	1	2	1	2	1	2	3	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:140075409G>T	ENST00000230771.3	+	6	835	c.612G>T	c.(610-612)caG>caT	p.Q204H	HARS2_ENST00000432671.2_Missense_Mutation_p.Q90H|HARS2_ENST00000437649.2_Missense_Mutation_p.Q130H|HARS2_ENST00000448069.2_Missense_Mutation_p.Q65H|HARS2_ENST00000435019.2_Missense_Mutation_p.Q164H|HARS2_ENST00000508522.1_Missense_Mutation_p.Q179H	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	204					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)			GTGGATTGCAGTTGGGAGACT	0.453																																																	0													148	146	146					5																	140075409		2203	4300	6503	SO:0001583	missense	0			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.612G>T	5.37:g.140075409G>T	ENSP00000230771:p.Gln204His		B4DDY8	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase	p.Q204H	ENST00000230771.3	37	c.612	CCDS4238.1	5	.	.	.	.	.	.	.	.	.	.	g	11.63	1.695974	0.30052	.	.	ENSG00000112855	ENST00000230771;ENST00000435019;ENST00000437649;ENST00000432671;ENST00000508522;ENST00000448069;ENST00000427675	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	6.17	1.36	0.22044	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.273077	0.42053	N	0.000766	T	0.54647	0.1871	M	0.69185	2.1	0.41657	D	0.989162	B;B;B;B;B;B	0.21309	0.003;0.054;0.045;0.013;0.013;0.013	B;B;B;B;B;B	0.30316	0.03;0.114;0.111;0.049;0.049;0.072	T	0.49808	-0.8900	10	0.52906	T	0.07	-19.2134	2.6953	0.05133	0.2893:0.1082:0.4914:0.1111	.	90;65;130;179;204;204	E9PD60;B4DQ67;E9PG66;B4DDY8;B2R7G6;P49590	.;.;.;.;.;SYHM_HUMAN	H	204;164;130;90;179;65;76	ENSP00000230771:Q204H;ENSP00000412887:Q164H;ENSP00000411708:Q130H;ENSP00000415007:Q90H;ENSP00000423616:Q179H;ENSP00000407105:Q65H	ENSP00000230771:Q204H	Q	+	3	2	HARS2	140055593	0.009000	0.17119	0.999000	0.59377	0.876000	0.50452	-0.065000	0.11617	0.181000	0.19994	0.655000	0.94253	CAG	HARS2	-	pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase	ENSG00000112855		0.453	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS2	HGNC	protein_coding	OTTHUMT00000251670.2		0	71	0	G	NM_012208		140075409	1			no_errors	ENST00000230771	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.876	T	T	140075409	G	T	140075409	3	4	153	1	0	0	0	0	1	0	0	0	6987	1020	36	3	634	3	HARS2	5	140075409	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	27899913	140075409	40839851	78	39046											
PCDHA4	56144	genome.wustl.edu	37	chr5	140186794	140186794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagttttcctggggaagcGgccaggaatcccggcgtctg	6	9	16	10	3	1	0	0	0	1	0	3	3	3	3	3	6	1	1	3	6	2	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:140186794G>A	ENST00000530339.1	+	1	22	c.22G>A	c.(22-24)Ggc>Agc	p.G8S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G8S|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G8S|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	8					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(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGAAGCGGCCAGGAATC	0.502																																																	0													79	90	86					5																	140186794		2203	4300	6503	SO:0001583	missense	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.22G>A	5.37:g.140186794G>A	ENSP00000435300:p.Gly8Ser		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G8S	ENST00000530339.1	37	c.22	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	15.50	2.853089	0.51270	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.50277	0.79;0.77;0.75	4.55	1.63	0.23807	.	0.358505	0.20187	U	0.097390	T	0.22742	0.0549	N	0.17674	0.51	0.09310	N	1	B;B;B	0.24768	0.05;0.029;0.111	B;B;B	0.18561	0.022;0.006;0.011	T	0.10543	-1.0625	10	0.16420	T	0.52	.	1.6432	0.02756	0.1868:0.1665:0.4751:0.1716	.	8;8;8	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	S	8	ENSP00000423470:G8S;ENSP00000349344:G8S;ENSP00000435300:G8S	ENSP00000349344:G8S	G	+	1	0	PCDHA4	140166978	0.000000	0.05858	0.005000	0.12908	0.543000	0.35085	-0.695000	0.05109	0.097000	0.17492	0.467000	0.42956	GGC	PCDHA4	-	NULL	ENSG00000204967		0.502	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	-	0	48	0	G	NM_018907		140186794	1	tier1	-	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	13.89	31	5	SNP	0.020	A	A	140186794	G	A	140186794	3	1	153	1	0	0	0	0	1	0	0	0	11565	1116	39	1	24	1	PCDHA4	5	140186794	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	111385	140186794	40728466	79	39047											
PCDHB4	56131	genome.wustl.edu	37	chr5	140502955	140502955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctcctacaccctgttcGtccgcgagaacaacagcccc	11	6	6	18	3	0	1	0	0	0	1	3	2	2	1	6	0	5	1	6	0	4	2	rs142630785		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:140502955G>A	ENST00000194152.1	+	1	1375	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	459	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)			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)			CACCCTGTTCGTCCGCGAGAA	0.632																																																	0													67	67	67					5																	140502955		2203	4297	6500	SO:0001583	missense	0			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.1375G>A	5.37:g.140502955G>A	ENSP00000194152:p.Val459Ile		Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V459I	ENST00000194152.1	37	c.1375	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	G	9.668	1.145999	0.21288	.	.	ENSG00000081818	ENST00000194152	T	0.53857	0.6	4.1	1.02	0.19986	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35068	0.0919	N	0.21142	0.635	0.09310	N	1	P	0.36789	0.57	B	0.40199	0.322	T	0.17806	-1.0357	9	0.23302	T	0.38	.	4.7803	0.13199	0.0827:0.2687:0.5113:0.1374	.	459	Q9Y5E5	PCDB4_HUMAN	I	459	ENSP00000194152:V459I	ENSP00000194152:V459I	V	+	1	0	PCDHB4	140483139	0.094000	0.21725	0.374000	0.26016	0.679000	0.39708	0.383000	0.20651	0.489000	0.27749	0.650000	0.86243	GTC	PCDHB4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000081818		0.632	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	-	0	137	0	G	NM_018938		140502955	1	tier1	rs142630785	no_errors	ENST00000194152	ensembl	human	known	74_37	missense	20.21	75	19	SNP	0.039	A	A	140502955	G	A	140502955	3	1	153	1	0	0	0	0	1	0	0	0	11583	1145	40	1	1377	1	PCDHB4	5	140502955	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	316161	140502955	40412305	80	39048											
PCDHB7	56129	genome.wustl.edu	37	chr5	140554213	140554213	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacggcgactcgggccagaaCgcctggctgtcgtaccagct	7	6	14	14	5	0	1	0	0	0	1	2	3	0	1	3	3	3	3	3	3	2	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:140554213C>T	ENST00000231137.3	+	1	1971	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	599	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(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)			CGGGCCAGAACGCCTGGCTGT	0.711																																																	0													23	34	31					5																	140554213		1935	3974	5909	SO:0001819	synonymous_variant	0			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.1797C>T	5.37:g.140554213C>T			A1L3Y8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N599	ENST00000231137.3	37	c.1797	CCDS4249.1	5																																																																																			PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113212		0.711	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	-	0	174	0	C	NM_018940		140554213	1	tier1	-	no_errors	ENST00000231137	ensembl	human	known	74_37	silent	20.30	106	27	SNP	1.000	T	T	140554213	C	T	140554213	2	4	153	1	0	0	0	0	0	0	0	1	11586	535	19	1		1	PCDHB7	5	140554213	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	51258	140554213	40361047	81	39049											
PCDHGA3	56112	genome.wustl.edu	37	chr5	140723816	140723816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgtctccagaggtaggacGcagcttttctctctgaatcc	8	12	9	12	2	3	2	0	1	3	1	7	3	4	3	2	2	1	3	2	2	2	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:140723816G>A	ENST00000253812.6	+	1	216	c.216G>A	c.(214-216)acG>acA	p.T72T	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	72	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)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTAGGACGCAGCTTTTCT	0.597											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65	76	73					5																	140723816		2177	4290	6467	SO:0001819	synonymous_variant	0			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.216G>A	5.37:g.140723816G>A		1658	Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T72	ENST00000253812.6	37	c.216	CCDS47290.1	5																																																																																			PCDHGA3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254245		0.597	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	-	0	47	0	G	NM_018916		140723816	1	tier1	-	no_errors	ENST00000253812	ensembl	human	known	74_37	silent	16.67	30	6	SNP	0.368	A	A	140723816	G	A	140723816	2	1	153	1	0	0	0	0	0	0	0	1	11594	1074	38	1		1	PCDHGA3	5	140723816	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	169603	140723816	40191444	82	39050											
ARAP3	64411	genome.wustl.edu	37	chr5	141059875	141059875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cggtgcctgtctgtagcaggCgtagaatgcgtttccggtgc	5	11	15	10	4	1	1	0	0	1	1	2	1	2	1	2	3	4	4	2	3	3	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:141059875C>T	ENST00000239440.4	-	2	244	c.179G>A	c.(178-180)cGc>cAc	p.R60H	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	60	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTGTAGCAGGCGTAGAATGCG	0.647																																																	0													84	88	86					5																	141059875		2203	4300	6503	SO:0001583	missense	0			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.179G>A	5.37:g.141059875C>T	ENSP00000239440:p.Arg60His		B4DIT1|D3DQE3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.R60H	ENST00000239440.4	37	c.179	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315548	0.60524	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	D;D	0.84873	-1.91;-1.91	4.35	4.35	0.52113	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.171905	0.38837	N	0.001541	D	0.85712	0.5760	L	0.33792	1.035	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.85377	0.1117	10	0.56958	D	0.05	.	8.1588	0.31185	0.0:0.8916:0.0:0.1084	.	60	Q8WWN8	ARAP3_HUMAN	H	60	ENSP00000239440:R60H;ENSP00000421148:R60H	ENSP00000239440:R60H	R	-	2	0	ARAP3	141040059	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	1.781000	0.38644	2.268000	0.75426	0.456000	0.33151	CGC	ARAP3	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000120318		0.647	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	-	0	59	0	C	NM_022481		141059875	-1	tier1	-	no_errors	ENST00000239440	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.997	T	T	141059875	C	T	141059875	3	4	153	1	0	0	0	0	1	0	0	0	840	768	27	1	4583	1	ARAP3	5	141059875	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	336059	141059875	39855385	83	39051											
ADAM19	8728	genome.wustl.edu	37	chr5	156957869	156957869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagttctgtctccctcaccGtgccgtggtaaaagcagtga	9	10	10	12	2	3	1	1	1	2	0	4	1	3	1	3	1	2	3	3	1	2	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:156957869G>A	ENST00000517905.1	-	5	397	c.353C>T	c.(352-354)aCg>aTg	p.T118M	ADAM19_ENST00000394020.1_Missense_Mutation_p.T120M|ADAM19_ENST00000430702.2_De_novo_Start_InFrame|ADAM19_ENST00000257527.4_Missense_Mutation_p.T118M			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	118					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)			CTCCCTCACCGTGCCGTGGTA	0.542																																																	0													120	95	103					5																	156957869		2203	4300	6503	SO:0001583	missense	0			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.353C>T	5.37:g.156957869G>A	ENSP00000428654:p.Thr118Met		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.T120M	ENST00000517905.1	37	c.359		5	.	.	.	.	.	.	.	.	.	.	G	6.385	0.439163	0.12104	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.07908	3.15;3.15;3.15	5.31	-0.0857	0.13684	.	0.473642	0.21409	N	0.075004	T	0.08447	0.0210	M	0.71036	2.16	0.21105	N	0.999787	B	0.23591	0.088	B	0.17979	0.02	T	0.23619	-1.0183	10	0.36615	T	0.2	.	4.4097	0.11427	0.3748:0.0:0.4765:0.1486	.	118	Q9H013-2	.	M	118;120;118	ENSP00000257527:T118M;ENSP00000377588:T120M;ENSP00000428654:T118M	ENSP00000257527:T118M	T	-	2	0	ADAM19	156890447	0.008000	0.16893	0.135000	0.22099	0.084000	0.17831	0.346000	0.19997	0.028000	0.15324	-0.136000	0.14681	ACG	ADAM19	-	pfam_Peptidase_M12B_N	ENSG00000135074		0.542	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	-	0	39	0	G	NM_033274		156957869	-1	tier1	-	no_errors	ENST00000394020	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.378	A	A	156957869	G	A	156957869	3	1	153	1	0	0	0	0	1	0	0	0	240	1145	40	1	2479	1	ADAM19	5	156957869	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	15897994	156957869	23957391	84	39052											
MAT2B	27430	genome.wustl.edu	37	chr5	162940917	162940917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaacaaatccaccttacaGagaggaagacataccagctc	16	6	8	11	0	0	2	0	0	0	2	2	5	1	4	3	2	4	1	3	2	5	2	rs544029890		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:162940917G>A	ENST00000321757.6	+	4	582	c.443G>A	c.(442-444)aGa>aAa	p.R148K	MAT2B_ENST00000280969.5_Missense_Mutation_p.R137K|MAT2B_ENST00000518095.1_Missense_Mutation_p.R148K	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	148					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|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)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	CCACCTTACAGAGAGGAAGAC	0.363													G|||	1	0.000199681	0	0	5008	,	,		14147	0.001		0	False		,,,				2504	0																0													91	88	89					5																	162940917		2203	4300	6503	SO:0001583	missense	0			AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	6905	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 23E, member 1"	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.443G>A	5.37:g.162940917G>A	ENSP00000325425:p.Arg148Lys		B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Missense_Mutation	SNP	pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase	p.R148K	ENST00000321757.6	37	c.443	CCDS4365.1	5	.	.	.	.	.	.	.	.	.	.	G	9.804	1.181336	0.21787	.	.	ENSG00000038274	ENST00000280969;ENST00000321757;ENST00000421814;ENST00000518095;ENST00000415433	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.66	3.68	0.42216	NAD(P)-binding domain (1);	0.327603	0.36555	N	0.002537	T	0.21347	0.0514	N	0.17248	0.465	0.19300	N	0.999973	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21586	-1.0241	10	0.05833	T	0.94	.	9.5455	0.39277	0.1001:0.3638:0.5361:0.0	.	148;148;137	Q9NZL9-3;Q9NZL9;Q9NZL9-2	.;MAT2B_HUMAN;.	K	137;148;83;148;42	ENSP00000280969:R137K;ENSP00000325425:R148K;ENSP00000397371:R83K;ENSP00000428046:R148K	ENSP00000280969:R137K	R	+	2	0	MAT2B	162873495	1.000000	0.71417	0.937000	0.37676	0.976000	0.68499	3.143000	0.50608	1.274000	0.44362	0.655000	0.94253	AGA	MAT2B	-	pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase	ENSG00000038274		0.363	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2B	HGNC	protein_coding	OTTHUMT00000252749.2	-	0	39	0	G	NM_013283		162940917	1	tier1	-	no_errors	ENST00000321757	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.531	A	A	162940917	G	A	162940917	3	1	153	1	0	0	0	0	1	0	0	0	9369	942	33	3	491	3	MAT2B	5	162940917	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	5983048	162940917	17974343	85	39053											
CLK4	57396	genome.wustl.edu	37	chr5	178045592	178045592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttgaacagtgtctattgcGcttccttttaggactgcttc	7	16	8	10	1	1	1	0	1	1	0	3	2	2	2	1	1	3	2	1	1	3	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr5:178045592G>A	ENST00000316308.4	-	3	517	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	CLK4_ENST00000522749.1_5'UTR|RN7SKP70_ENST00000516655.1_RNA	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	117					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)		TGTCTATTGCGCTTCCTTTTA	0.408																																																	0													232	219	223					5																	178045592		2203	4300	6503	SO:0001583	missense	0			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.349C>T	5.37:g.178045592G>A	ENSP00000316948:p.Arg117Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R117C	ENST00000316308.4	37	c.349	CCDS4437.1	5	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300109	0.60195	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.70516	-0.49	5.85	5.85	0.93711	.	0.906061	0.09790	N	0.755568	T	0.68210	0.2976	L	0.45352	1.415	0.80722	D	1	P;D;D;D;D	0.64830	0.894;0.994;0.968;0.97;0.97	B;B;B;B;B	0.41299	0.231;0.353;0.231;0.27;0.27	T	0.71144	-0.4678	10	0.72032	D	0.01	.	17.6591	0.88187	0.0:0.0:1.0:0.0	.	117;117;117;117;117	B7Z990;B7ZL31;Q4G0Z5;B9EG64;Q9HAZ1	.;.;.;.;CLK4_HUMAN	C	117	ENSP00000316948:R117C	ENSP00000316948:R117C	R	-	1	0	CLK4	177978198	1.000000	0.71417	0.991000	0.47740	0.871000	0.50021	5.445000	0.66594	2.768000	0.95171	0.655000	0.94253	CGC	CLK4	-	NULL	ENSG00000113240		0.408	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	HGNC	protein_coding	OTTHUMT00000253479.2	-	0	81	0	G			178045592	-1	tier1	-	no_errors	ENST00000316308	ensembl	human	known	74_37	missense	18.03	50	11	SNP	1.000	A	A	178045592	G	A	178045592	3	1	153	1	0	0	0	0	1	0	0	0	3546	1087	38	1	1140	1	CLK4	5	178045592	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	15104675	178045592	2869668	86	39054											
SLC17A4	10050	genome.wustl.edu	37	chr6	25776845	25776845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcctgtctgccttgcCgtttgttgttggatgtatct	3	18	12	8	1	2	0	0	0	2	0	3	2	3	2	3	2	2	4	3	2	1	5	rs368361659		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	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	0			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	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P337L	ENST00000377905.4	37	c.1010	CCDS4564.1	6	.	.	.	.	.	.	.	.	.	.	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	SLC17A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146039		0.507	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	-	0	35	0	C			25776845	1	tier1	-	no_errors	ENST00000377905	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.957	T	T	25776845	C	T	25776845	3	4	153	1	0	0	0	0	1	0	0	0	14464	652	23	1	1040	1	SLC17A4	6	25776845	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09		25776845	145338222	87	39055											
COL11A2	1302	genome.wustl.edu	37	chr6	33138892	33138892	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtggaggggtcactcaccGctgctccaggctgccccaca	6	6	14	15	1	2	0	2	0	0	0	3	1	3	1	4	5	2	3	4	5	0	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr6:33138892G>A	ENST00000374708.4	-	43	3365	c.3107C>T	c.(3106-3108)gCg>gTg	p.A1036V	COL11A2_ENST00000374712.1_Splice_Site_p.A1041V|COL11A2_ENST00000341947.2_Splice_Site_p.A1122V|COL11A2_ENST00000395197.1_Splice_Site_p.A1062V|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Splice_Site_p.A1015V|COL11A2_ENST00000374714.1_Splice_Site_p.A1096V|COL11A2_ENST00000374713.1_Splice_Site_p.A1075V|COL11A2_ENST00000357486.1_Splice_Site_p.A1101V	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1122	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						GTCACTCACCGCTGCTCCAGG	0.652																																					Melanoma(1;90 116 3946 5341 17093)												0													16	17	16					6																	33138892		2191	4290	6481	SO:0001630	splice_region_variant	0			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.3108+1C>T	6.37:g.33138892G>A			A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.A1122V	ENST00000374708.4	37	c.3365	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513537	0.64522	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	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	4.65	4.65	0.58169	.	0.070349	0.56097	D	0.000040	D	0.88618	0.6485	L	0.28649	0.875	0.58432	D	0.999997	P;P;P	0.51653	0.935;0.935;0.947	B;P;P	0.48921	0.381;0.46;0.595	D	0.89017	0.3432	10	0.42905	T	0.14	.	15.0632	0.71970	0.0:0.0:1.0:0.0	.	1015;1036;1122	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	V	1036;1122;1101;1096;1075;1062;1041;1015	ENSP00000363840:A1036V;ENSP00000339915:A1122V;ENSP00000350079:A1101V;ENSP00000363846:A1096V;ENSP00000363845:A1075V;ENSP00000378623:A1062V;ENSP00000363844:A1041V;ENSP00000355123:A1015V	ENSP00000339915:A1122V	A	-	2	0	COL11A2	33246870	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.314000	0.96306	2.400000	0.81607	0.551000	0.68910	GCG	COL11A2	-	pfam_Collagen	ENSG00000204248		0.652	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	-	0	25	0	G		Missense_Mutation	33138892	-1	tier1	-	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	A	A	33138892	G	A	33138892	5	1	153	1	0	0	0	0	0	0	1	0	3675	1101	38	1	1933	1	COL11A2	6	33138892	Splice_Site	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	7362047	33138892	137976175	88	39056											
FUCA2	2519	genome.wustl.edu	37	chr6	143828513	143828513	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactaggagggtaattatcTttcataaattccacatactt	15	14	5	7	0	2	0	1	0	1	0	3	1	3	1	1	2	2	1	1	2	7	8			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr6:143828513T>G	ENST00000002165.6	-	2	328	c.273A>C	c.(271-273)aaA>aaC	p.K91N	RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|FUCA2_ENST00000438118.2_Missense_Mutation_p.K91N|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	91					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GGTAATTATCTTTCATAAATT	0.363																																																	0													106	119	114					6																	143828513		2203	4300	6503	SO:0001583	missense	0			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.273A>C	6.37:g.143828513T>G	ENSP00000002165:p.Lys91Asn		E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.K91N	ENST00000002165.6	37	c.273	CCDS5200.1	6	.	.	.	.	.	.	.	.	.	.	T	2.161	-0.392173	0.04932	.	.	ENSG00000001036	ENST00000002165;ENST00000438118;ENST00000367585	T;T;T	0.56611	0.45;0.45;0.45	5.21	-1.49	0.08718	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.362336	0.34362	N	0.004039	T	0.16599	0.0399	L	0.49126	1.545	0.22001	N	0.999426	B	0.18013	0.025	B	0.21151	0.033	T	0.16394	-1.0404	10	0.27785	T	0.31	-7.933	1.9917	0.03448	0.1081:0.2981:0.2316:0.3622	.	91	Q9BTY2	FUCO2_HUMAN	N	91	ENSP00000002165:K91N;ENSP00000394151:K91N;ENSP00000356557:K91N	ENSP00000002165:K91N	K	-	3	2	FUCA2	143870206	0.003000	0.15002	0.071000	0.20095	0.090000	0.18270	-0.068000	0.11561	-0.123000	0.11745	0.533000	0.62120	AAA	FUCA2	-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	ENSG00000001036		0.363	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA2	HGNC	protein_coding	OTTHUMT00000042521.2	-	0	64	0	T	NM_032020		143828513	-1	tier1	-	no_errors	ENST00000002165	ensembl	human	known	74_37	missense	24.32	56	18	SNP	0.041	G	G	143828513	T	G	143828513	3	3	153	1	0	0	0	0	1	0	0	0	6119	1606	56	4	1154	4	FUCA2	6	143828513	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	110689621	143828513	27286554	89	39057											
PNLDC1	154197	genome.wustl.edu	37	chr6	160239687	160239687	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggggtcccaaagatcGtgagtagatctcatttggcc	9	9	14	9	2	1	3	1	1	1	2	4	4	2	3	2	3	1	1	2	3	2	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr6:160239687G>A	ENST00000610273.1	+	16	1395		c.e16+1		PNLDC1_ENST00000392167.3_Splice_Site	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCCAAAGATCGTGAGTAGATC	0.582																																																	0													59	57	58					6																	160239687		2203	4300	6503	SO:0001630	splice_region_variant	0			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1224+1G>A	6.37:g.160239687G>A			Q5TAP7|Q8N7X5	Splice_Site	SNP	-	e15+1	ENST00000610273.1	37	c.1224+1	CCDS5271.1	6	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762856	0.31228	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6111	0.88053	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLDC1	160159677	1.000000	0.71417	0.652000	0.29579	0.047000	0.14425	6.065000	0.71176	2.662000	0.90505	0.561000	0.74099	.	PNLDC1	-	-	ENSG00000146453		0.582	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding			0	15	0	G	NM_173516	Intron	160239687	1			no_errors	ENST00000610273	ensembl	human	known	74_37	splice_site	19.05	17	4	SNP	1.000	A	A	160239687	G	A	160239687	5	1	153	1	0	0	0	0	0	0	1	0	12187	1159	40	1	1283	1	PNLDC1	6	160239687	Splice_Site	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	16411174	160239687	10875380	90	39058											
SLC22A3	6581	genome.wustl.edu	37	chr6	160829877	160829877	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tcataattctccctggaattGcctacttcatccccaactgg	9	13	5	14	0	3	0	2	0	1	0	5	1	4	1	4	2	3	0	4	2	4	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr6:160829877G>A	ENST00000275300.2	+	4	933	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	SLC22A3_ENST00000392145.1_Missense_Mutation_p.A261T	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	261					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CCCTGGAATTGCCTACTTCAT	0.423																																																	0													144	133	136					6																	160829877		2203	4300	6503	SO:0001583	missense	0			AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.781G>A	6.37:g.160829877G>A	ENSP00000275300:p.Ala261Thr		Q5SYN6|Q9UP02	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A261T	ENST00000275300.2	37	c.781	CCDS5277.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.519367	0.96416	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.61274	0.12;0.12	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.80314	0.4600	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83494	0.0071	10	0.52906	T	0.07	.	18.1132	0.89542	0.0:0.0:1.0:0.0	.	261	O75751	S22A3_HUMAN	T	261	ENSP00000275300:A261T;ENSP00000375989:A261T	ENSP00000275300:A261T	A	+	1	0	SLC22A3	160749867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.128000	0.94424	2.720000	0.93068	0.650000	0.86243	GCC	SLC22A3	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000146477		0.423	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC22A3	HGNC	protein_coding	OTTHUMT00000042953.1	-	0	49	0	G	NM_021977		160829877	1	tier1	-	no_errors	ENST00000392145	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	160829877	G	A	160829877	3	1	153	1	0	0	0	0	1	0	0	0	14500	1319	46	3	795	3	SLC22A3	6	160829877	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	590190	160829877	10285190	91	39059											
NDUFA4	4697	genome.wustl.edu	37	chr7	10973276	10973276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	atttcatttagaaatctggaCgttccttcttcagcttgctg	8	17	7	9	1	4	1	2	0	2	1	5	2	5	2	1	1	2	3	1	1	2	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr7:10973276C>T	ENST00000339600.5	-	4	431	c.233G>A	c.(232-234)cGt>cAt	p.R78H		NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated	78					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|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 I (GO:0005747)|mitochondrial respiratory chain complex IV (GO:0005751)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GAAATCTGGACGTTCCTTCTT	0.363																																																	0													55	52	53					7																	10973276		2203	4300	6503	SO:0001583	missense	0			U94586	CCDS5357.1	7p21.3	2014-07-30	2014-07-30		ENSG00000189043	ENSG00000189043			7687	protein-coding gene	gene with protein product	"complex I 9kDa subunit", "NADH-ubiquinone oxidoreductase MLRQ subunit"	603833	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa"			9352085	Standard	NM_002489		Approved	MLRQ, CI-9k	uc003srx.2	O00483	OTTHUMG00000023880	ENST00000339600.5:c.233G>A	7.37:g.10973276C>T	ENSP00000339720:p.Arg78His		A4D109|Q6FHN5	Missense_Mutation	SNP	NULL	p.R78H	ENST00000339600.5	37	c.233	CCDS5357.1	7	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791481	0.50102	.	.	ENSG00000189043	ENST00000339600	T	0.77489	-1.1	5.02	4.13	0.48395	.	0.332255	0.32518	N	0.005992	T	0.69196	0.3084	.	.	.	0.32961	D	0.521012	B	0.12013	0.005	B	0.12156	0.007	T	0.72934	-0.4141	9	0.51188	T	0.08	-11.3435	12.0217	0.53348	0.1729:0.8271:0.0:0.0	.	78	O00483	NDUA4_HUMAN	H	78	ENSP00000339720:R78H	ENSP00000339720:R78H	R	-	2	0	NDUFA4	10939801	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.286000	0.65639	1.332000	0.45431	0.650000	0.86243	CGT	NDUFA4	-	NULL	ENSG00000189043		0.363	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA4	HGNC	protein_coding	OTTHUMT00000207507.3	-	0	40	0	C	NM_002489		10973276	-1	tier1	-	no_errors	ENST00000339600	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	T	T	10973276	C	T	10973276	3	4	153	1	0	0	0	0	1	0	0	0	10305	536	19	1	16	1	NDUFA4	7	10973276	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09		10973276	148165387	92	39060											
TMEM195	392636	genome.wustl.edu	37	chr7	15599775	15599775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctaactcaccttggaagtCgagacagaacaccagctgag	14	7	9	11	1	2	3	1	1	1	2	3	5	2	4	2	1	3	1	2	1	3	2	rs373631505		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr7:15599775C>T	ENST00000342526.3	-	2	417	c.248G>A	c.(247-249)cGa>cAa	p.R83Q		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	83					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CCTTGGAAGTCGAGACAGAAC	0.453																																																	0								C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	124	114	118		248	-0.1	0.7	7		118	0,8600		0,0,4300	no	missense	AGMO	NM_001004320.1	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	83/446	15599775	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.248G>A	7.37:g.15599775C>T	ENSP00000341662:p.Arg83Gln		A4D114|A6NCH5	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.R83Q	ENST00000342526.3	37	c.248	CCDS34604.1	7	.	.	.	.	.	.	.	.	.	.	C	7.385	0.629604	0.14257	4.54E-4	0.0	ENSG00000187546	ENST00000342526	T	0.28069	1.63	5.9	-0.0971	0.13634	.	0.169304	0.51477	N	0.000085	T	0.13543	0.0328	N	0.16602	0.42	0.38134	D	0.938245	B	0.13145	0.007	B	0.06405	0.002	T	0.37526	-0.9702	10	0.02654	T	1	-15.2044	10.5503	0.45083	0.0:0.6273:0.0:0.3727	.	83	Q6ZNB7	ALKMO_HUMAN	Q	83	ENSP00000341662:R83Q	ENSP00000341662:R83Q	R	-	2	0	AGMO	15566300	0.371000	0.25056	0.728000	0.30774	0.235000	0.25334	0.187000	0.16998	-0.070000	0.12908	0.563000	0.77884	CGA	AGMO	-	NULL	ENSG00000187546		0.453	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMO	HGNC	protein_coding	OTTHUMT00000326049.2	-	0	62	0	C	NM_001004320		15599775	-1	tier1	-	no_errors	ENST00000342526	ensembl	human	known	74_37	missense	20.73	65	17	SNP	0.966	T	T	15599775	C	T	15599775	3	4	153	1	0	0	0	0	1	0	0	0	16164	884	31	1	1137	1	TMEM195	7	15599775	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	4626499	15599775	143538888	93	39061											
HECW1	23072	genome.wustl.edu	37	chr7	43503287	43503287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattcagcgaaccattgcaAcagagaggtccgaagaagat	16	6	10	9	2	1	3	1	0	0	3	2	6	2	3	2	1	4	1	2	1	4	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr7:43503287A>G	ENST00000395891.2	+	14	3285	c.2680A>G	c.(2680-2682)Aca>Gca	p.T894A	HECW1_ENST00000453890.1_Missense_Mutation_p.T860A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	894					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						AACCATTGCAACAGAGAGGTC	0.502																																																	0													72	78	76					7																	43503287		1906	4118	6024	SO:0001583	missense	0			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.2680A>G	7.37:g.43503287A>G	ENSP00000379228:p.Thr894Ala		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.T894A	ENST00000395891.2	37	c.2680	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255093	0.59321	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.84660	-1.88;-1.88	5.2	4.05	0.47172	.	3.819830	0.01746	U	0.029660	T	0.79997	0.4543	L	0.34521	1.04	0.58432	D	0.999999	P;B	0.43287	0.802;0.215	B;B	0.38616	0.277;0.146	T	0.62868	-0.6763	10	0.15066	T	0.55	.	10.9174	0.47144	0.9258:0.0:0.0742:0.0	.	860;894	B4DH42;Q76N89	.;HECW1_HUMAN	A	894;860;894	ENSP00000379228:T894A;ENSP00000407774:T860A	ENSP00000265522:T894A	T	+	1	0	HECW1	43469812	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.175000	0.71949	0.825000	0.34637	0.482000	0.46254	ACA	HECW1	-	NULL	ENSG00000002746		0.502	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2		0	42	0	A	NM_015052		43503287	1			no_errors	ENST00000395891	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	G	G	43503287	A	G	43503287	3	3	153	1	0	0	0	0	1	0	0	0	7069	43	2	4	2726	4	HECW1	7	43503287	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	27903512	43503287	115635376	94	39062											
ZNF107	51427	genome.wustl.edu	37	chr7	64167902	64167902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccataggaaaatttattCtggagagaaaccatacaaat	19	10	6	6	0	1	1	0	0	1	1	1	4	1	3	2	2	3	0	2	2	8	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr7:64167902C>A	ENST00000395391.1	+	4	2595	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y	ZNF107_ENST00000423627.1_Missense_Mutation_p.S407Y|ZNF107_ENST00000344930.3_Missense_Mutation_p.S407Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	407					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)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAAATTTATTCTGGAGAGAAA	0.338																																																	0													39	44	42					7																	64167902		2199	4299	6498	SO:0001583	missense	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1220C>A	7.37:g.64167902C>A	ENSP00000378789:p.Ser407Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S407Y	ENST00000395391.1	37	c.1220	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	20.1	3.937722	0.73557	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.19938	2.11;2.11;2.11	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25306	0.0615	M	0.85710	2.77	0.23107	N	0.998282	B	0.32829	0.386	B	0.28139	0.086	T	0.14896	-1.0456	8	.	.	.	.	7.9559	0.30042	0.0:1.0:0.0:0.0	.	407	Q9UII5	ZN107_HUMAN	Y	407	ENSP00000343443:S407Y;ENSP00000400037:S407Y;ENSP00000378789:S407Y	.	S	+	2	0	ZNF107	63805337	0.001000	0.12720	0.562000	0.28370	0.852000	0.48524	1.012000	0.29924	0.635000	0.30488	0.313000	0.20887	TCT	ZNF107	-	pfscan_Znf_C2H2	ENSG00000196247		0.338	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1		0	37	0	C	NM_016220		64167902	1			no_errors	ENST00000344930	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	64167902	C	A	64167902	3	1	153	1	0	0	0	0	1	0	0	0	17763	913	32	3	1226	3	ZNF107	7	64167902	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	20664615	64167902	94970761	95	39063											
AUTS2	26053	genome.wustl.edu	37	chr7	69755386	69755386	+	Intron	SNP	A	A	G	1	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	atgtgccttggagaggaagcAtgtcttaaatctggaaatga	13	11	12	5	0	2	2	0	1	2	1	2	5	2	4	1	3	2	1	1	3	4	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr7:69755386A>G	ENST00000342771.4	+	5	981				AUTS2_ENST00000406775.2_Intron|AUTS2_ENST00000403018.2_Silent_p.A231A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2											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)		GAGAGGAAGCATGTCTTAAAT	0.383																																																	0													198	159	171					7																	69755386		692	1591	2283	SO:0001627	intron_variant	0			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.661-145352A>G	7.37:g.69755386A>G			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	NULL	p.A231	ENST00000342771.4	37	c.693	CCDS5539.1	7																																																																																			AUTS2	-	NULL	ENSG00000158321		0.383	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	-	0	66	0	A			69755386	1	tier1	-	no_errors	ENST00000403018	ensembl	human	known	74_37	silent	15.49	60	11	SNP	0.000	G	G	69755386	A	G	69755386	1	3	153	0	1	0	0	0	0	0	0	0	1226	204	8	4		4	AUTS2	7	69755386	Intron	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	5587484	69755386	89383277	96	39064											
MUC17	140453	genome.wustl.edu	37	chr7	100677376	100677376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaactcctgttgacaccagCacacctgtgaccaattctac	12	9	5	15	0	1	2	0	2	1	0	2	2	2	2	4	0	3	2	4	0	3	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr7:100677376C>T	ENST00000306151.4	+	3	2743	c.2679C>T	c.(2677-2679)agC>agT	p.S893S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	893	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)					TTGACACCAGCACACCTGTGA	0.493																																																	0													296	290	292					7																	100677376		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2679C>T	7.37:g.100677376C>T			O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S893	ENST00000306151.4	37	c.2679	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	87	0	C	NM_001040105		100677376	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	silent	10.13	71	8	SNP	0.003	T	T	100677376	C	T	100677376	2	4	153	1	0	0	0	0	0	0	0	1	10012	709	25	3		3	MUC17	7	100677376	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	30921990	100677376	58461287	97	39065											
RELN	5649	genome.wustl.edu	37	chr7	103243923	103243923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggcattcagtgccttggTacccctggtcacacctatga	7	11	11	12	0	2	1	2	1	0	0	2	1	2	1	4	4	2	2	4	4	2	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr7:103243923T>C	ENST00000428762.1	-	24	3320	c.3161A>G	c.(3160-3162)tAc>tGc	p.Y1054C	RELN_ENST00000424685.2_Missense_Mutation_p.Y1054C|RELN_ENST00000343529.5_Missense_Mutation_p.Y1054C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1054	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTGCCTTGGTACCCCTGGTC	0.522																																					NSCLC(146;835 1944 15585 22231 52158)												0													77	74	75					7																	103243923		2203	4300	6503	SO:0001583	missense	0				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.3161A>G	7.37:g.103243923T>C	ENSP00000392423:p.Tyr1054Cys		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.Y1054C	ENST00000428762.1	37	c.3161	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	T	17.64	3.440894	0.63067	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.44482	0.92;0.92;0.92	5.45	4.22	0.49857	EGF, extracellular (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.062933	0.64402	D	0.000007	T	0.66519	0.2797	H	0.95260	3.645	0.39455	D	0.967474	D;D	0.56287	0.975;0.975	P;P	0.55345	0.774;0.594	T	0.77368	-0.2614	10	0.72032	D	0.01	.	10.7171	0.46019	0.2176:0.0:0.0:0.7824	.	1054;1054	P78509-2;P78509	.;RELN_HUMAN	C	1054	ENSP00000392423:Y1054C;ENSP00000345694:Y1054C;ENSP00000388446:Y1054C	ENSP00000345694:Y1054C	Y	-	2	0	RELN	103031159	1.000000	0.71417	0.973000	0.42090	0.958000	0.62258	2.519000	0.45546	2.064000	0.61679	0.533000	0.62120	TAC	RELN	-	pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,superfamily_Sialidases,smart_EG-like_dom	ENSG00000189056		0.522	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	43	0	T	NM_005045		103243923	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	26.53	36	13	SNP	0.998	C	C	103243923	T	C	103243923	3	2	153	1	0	0	0	0	1	0	0	0	13265	1638	57	4	7389	4	RELN	7	103243923	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	2566547	103243923	55894740	98	39066											
KIAA1147	57189	genome.wustl.edu	37	chr7	141364844	141364844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttctcctcgaatatcttCtctgtggtgcctgtggaacc	5	14	9	13	2	3	0	0	0	3	0	6	2	3	1	3	2	2	1	3	2	3	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr7:141364844C>A	ENST00000536163.1	-	7	962	c.963G>T	c.(961-963)gaG>gaT	p.E321D	RP5-894A10.6_ENST00000602609.1_RNA|KIAA1147_ENST00000482493.1_Missense_Mutation_p.E217D	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	321										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CGAATATCTTCTCTGTGGTGC	0.587																																																	0													63	64	64					7																	141364844		1957	4164	6121	SO:0001583	missense	0			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.963G>T	7.37:g.141364844C>A	ENSP00000445768:p.Glu321Asp		Q9ULS3	Missense_Mutation	SNP	pfam_DUF2347	p.E321D	ENST00000536163.1	37	c.963	CCDS47726.1	7	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725804	0.89298	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	N	0.25332	0.735	0.49299	D	0.999771	D	0.54397	0.966	P	0.61874	0.895	T	0.41016	-0.9532	9	0.12103	T	0.63	-30.0951	10.7	0.45922	0.0:0.9038:0.0:0.0962	.	321	A4D1U4	LCHN_HUMAN	D	321;217	.	ENSP00000297761:E321D	E	-	3	2	KIAA1147	141011313	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.249000	0.58766	2.359000	0.80004	0.561000	0.74099	GAG	KIAA1147	-	pfam_DUF2347	ENSG00000257093		0.587	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1147	HGNC	protein_coding	OTTHUMT00000349104.1	-	0	42	0	C			141364844	-1	tier1	-	no_errors	ENST00000536163	ensembl	human	known	74_37	missense	48.89	23	22	SNP	1.000	A	A	141364844	C	A	141364844	3	1	153	1	0	0	0	0	1	0	0	0	8237	912	32	3	416	3	KIAA1147	7	141364844	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	38120921	141364844	17773819	99	39067											
CSMD1	64478	genome.wustl.edu	37	chr8	2966266	2966266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgagttctgatcgggacCgtccctaggaaagacagaaa	12	7	14	8	2	1	4	0	2	1	2	3	6	2	6	2	3	0	1	2	3	3	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr8:2966266C>T	ENST00000520002.1	-	45	7171	c.6616G>A	c.(6616-6618)Ggt>Agt	p.G2206S	CSMD1_ENST00000537824.1_Missense_Mutation_p.G2205S|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2206S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2206S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2206S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2205S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2206	CUB 13. {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)		TGATCGGGACCGTCCCTAGGA	0.453																																																	0													59	57	58					8																	2966266		1873	4119	5992	SO:0001583	missense	0					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.6616G>A	8.37:g.2966266C>T	ENSP00000430733:p.Gly2206Ser		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G2206S	ENST00000520002.1	37	c.6616		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.330473|4.330473	0.81690|0.81690	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.26373|.	1.74;1.74;1.74;1.74|.	4.67|4.67	4.67|4.67	0.58626|0.58626	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82972|0.82972	0.5153|0.5153	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.998;1.0|.	D|D	0.85987|0.85987	0.1486|0.1486	10|5	0.56958|.	D|.	0.05|.	.|.	17.9139|17.9139	0.88943|0.88943	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2206;2206;2205|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	S|Q	2206;2206;2067;2205;2205|1685	ENSP00000383047:G2206S;ENSP00000430733:G2206S;ENSP00000441462:G2205S;ENSP00000446243:G2205S|.	ENSP00000320445:G2067S|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	2953673|2953673	1.000000|1.000000	0.71417|0.71417	0.447000|0.447000	0.26932|0.26932	0.493000|0.493000	0.33554|0.33554	7.444000|7.444000	0.80532|0.80532	2.277000|2.277000	0.76020|0.76020	0.478000|0.478000	0.44815|0.44815	GGT|CGG	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	40	0	C	NM_033225		2966266	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	32.35	23	11	SNP	1.000	T	T	2966266	C	T	2966266	3	4	153	1	0	0	0	0	1	0	0	0	3953	652	23	1	4189	1	CSMD1	8	2966266	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09		2966266	143397756	100	39068											
RP1	6101	genome.wustl.edu	37	chr8	55533956	55533956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgccccaccccgtagccGtcgctgctcccggcatgccc	4	5	9	23	5	0	0	0	0	0	0	2	0	1	0	8	1	3	4	8	1	1	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr8:55533956G>T	ENST00000220676.1	+	2	578	c.430G>T	c.(430-432)Gtc>Ttc	p.V144F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	144					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)			CCCCGTAGCCGTCGCTGCTCC	0.697																																					Colon(91;1014 1389 7634 14542 40420)												0													32	37	36					8																	55533956		2202	4299	6501	SO:0001583	missense	0			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.430G>T	8.37:g.55533956G>T	ENSP00000220676:p.Val144Phe			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.V144F	ENST00000220676.1	37	c.430	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017402	0.35606	.	.	ENSG00000104237	ENST00000220676	T	0.21932	1.98	4.67	2.86	0.33363	.	1.717000	0.03092	N	0.159907	T	0.08313	0.0207	N	0.02539	-0.55	0.09310	N	1	P	0.36438	0.553	B	0.28465	0.09	T	0.23119	-1.0197	10	0.21540	T	0.41	2.7566	6.5289	0.22316	0.1034:0.2002:0.6964:0.0	.	144	P56715	RP1_HUMAN	F	144	ENSP00000220676:V144F	ENSP00000220676:V144F	V	+	1	0	RP1	55696509	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.306000	0.08178	0.522000	0.28464	0.650000	0.86243	GTC	RP1	-	NULL	ENSG00000104237		0.697	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2		0	26	0	G	NM_006269		55533956	1			no_errors	ENST00000220676	ensembl	human	known	74_37	missense	7.89	34	3	SNP	0.008	T	T	55533956	G	T	55533956	3	4	153	1	0	0	0	0	1	0	0	0	13577	1145	40	2	432	2	RP1	8	55533956	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	52567690	55533956	90830066	101	39069											
PREX2	80243	genome.wustl.edu	37	chr8	69005844	69005844	+	Missense_Mutation	SNP	A	A	G	1	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	cccccctcatttccagcaagAttccatacaatgggtttata	11	12	5	13	0	1	1	1	0	0	1	3	1	3	1	5	1	2	2	5	1	5	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr8:69005844A>G	ENST00000288368.4	+	21	2532	c.2255A>G	c.(2254-2256)gAt>gGt	p.D752G	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	752	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						TTCCAGCAAGATTCCATACAA	0.428																																																	0													105	106	106					8																	69005844		2203	4300	6503	SO:0001583	missense	0			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.2255A>G	8.37:g.69005844A>G	ENSP00000288368:p.Asp752Gly		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D752G	ENST00000288368.4	37	c.2255	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	A	11.47	1.649394	0.29336	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.25085	1.82	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	N	0.08118	0	0.80722	D	1	D;B;P	0.61697	0.99;0.0;0.848	P;B;P	0.56216	0.794;0.001;0.519	T	0.03933	-1.0991	10	0.02654	T	1	.	15.898	0.79350	1.0:0.0:0.0:0.0	.	752;752;752	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	G	752	ENSP00000288368:D752G	ENSP00000288368:D752G	D	+	2	0	PREX2	69168398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.515000	0.90548	2.150000	0.67090	0.528000	0.53228	GAT	PREX2	-	NULL	ENSG00000046889		0.428	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	58	0	A	NM_025170		69005844	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	11.49	77	10	SNP	1.000	G	G	69005844	A	G	69005844	3	3	153	1	0	0	0	0	1	0	0	0	12519	333	12	4	2337	4	PREX2	8	69005844	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	13471888	69005844	77358178	102	39070											
PI15	51050	genome.wustl.edu	37	chr8	75737501	75737501	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaaatgatagcaatctctgCcgtcagcagtgcactcctgt	11	10	8	12	1	2	1	1	1	1	0	4	1	3	1	2	0	4	3	2	0	4	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr8:75737501C>G	ENST00000260113.2	+	2	196	c.17C>G	c.(16-18)gCc>gGc	p.A6G	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.A6G	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	6						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)			GCAATCTCTGCCGTCAGCAGT	0.453																																																	0													272	278	276					8																	75737501		2203	4300	6503	SO:0001583	missense	0			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.17C>G	8.37:g.75737501C>G	ENSP00000260113:p.Ala6Gly		Q68CY1	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.A6G	ENST00000260113.2	37	c.17	CCDS6218.1	8	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087009	0.36855	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08807	3.05;3.05	4.77	4.77	0.60923	.	0.199054	0.41500	D	0.000873	T	0.08268	0.0206	N	0.22421	0.69	0.28784	N	0.89967	B	0.17038	0.02	B	0.17433	0.018	T	0.12863	-1.0531	10	0.49607	T	0.09	.	18.3479	0.90328	0.0:1.0:0.0:0.0	.	6	O43692	PI15_HUMAN	G	6	ENSP00000260113:A6G;ENSP00000428567:A6G	ENSP00000260113:A6G	A	+	2	0	PI15	75900056	0.979000	0.34478	0.934000	0.37439	0.861000	0.49209	2.270000	0.43355	2.652000	0.90054	0.561000	0.74099	GCC	PI15	-	NULL	ENSG00000137558		0.453	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PI15	HGNC	protein_coding	OTTHUMT00000379115.1		0	25	0	C	NM_015886		75737501	1			no_errors	ENST00000260113	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.965	G	G	75737501	C	G	75737501	3	3	153	1	0	0	0	0	1	0	0	0	11907	739	26	5	19	5	PI15	8	75737501	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	6731657	75737501	70626521	103	39071											
ZFHX4	79776	genome.wustl.edu	37	chr8	77775556	77775556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaacaaggtgaaaaaaatCaaagaggaggaattagaggc	21	4	11	5	0	1	3	1	1	0	2	1	5	1	5	1	4	1	0	1	4	8	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr8:77775556C>G	ENST00000521891.2	+	11	10054	c.9606C>G	c.(9604-9606)atC>atG	p.I3202M	ZFHX4_ENST00000050961.6_Missense_Mutation_p.I3153M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I3176M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I3157M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3153					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)			TGAAAAAAATCAAAGAGGAGG	0.433										HNSCC(33;0.089)																																							0													90	88	89					8																	77775556		1873	4120	5993	SO:0001583	missense	0				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.9606C>G	8.37:g.77775556C>G	ENSP00000430497:p.Ile3202Met		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.I3202M	ENST00000521891.2	37	c.9606	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	8.714	0.912677	0.17907	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49432	0.78;0.83;0.8;0.8	4.71	4.71	0.59529	.	0.000000	0.43110	U	0.000601	T	0.39226	0.1070	L	0.40543	1.245	0.30693	N	0.751075	B	0.15141	0.012	B	0.16289	0.015	T	0.39643	-0.9604	10	0.45353	T	0.12	.	12.6386	0.56696	0.0:0.9201:0.0:0.0799	.	3157	Q86UP3-4	.	M	3202;3186;3157;3153;3176	ENSP00000430497:I3202M;ENSP00000399605:I3157M;ENSP00000050961:I3153M;ENSP00000430848:I3176M	ENSP00000050961:I3153M	I	+	3	3	ZFHX4	77938111	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.934000	0.40163	2.601000	0.87937	0.561000	0.74099	ATC	ZFHX4	-	NULL	ENSG00000091656		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	26	0	C	NM_024721		77775556	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	G	G	77775556	C	G	77775556	3	3	153	1	0	0	0	0	1	0	0	0	17683	816	29	5	9644	5	ZFHX4	8	77775556	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	2038055	77775556	68588466	104	39072											
PEX2	5828	genome.wustl.edu	37	chr8	77895549	77895549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ctgatttcagtggctgcagaCtgtgtacttctgtgccacac	7	13	10	11	0	2	2	1	1	1	1	2	2	2	2	1	1	3	3	1	1	1	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr8:77895549C>T	ENST00000419564.2	-	4	1330	c.866G>A	c.(865-867)aGt>aAt	p.S289N	PEX2_ENST00000522527.1_Missense_Mutation_p.S289N|PEX2_ENST00000357039.4_Missense_Mutation_p.S289N|PEX2_ENST00000520103.1_Missense_Mutation_p.S289N	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	289					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						TGGCTGCAGACTGTGTACTTC	0.368																																																	0													89	92	91					8																	77895549		2203	4300	6503	SO:0001583	missense	0			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.866G>A	8.37:g.77895549C>T	ENSP00000400984:p.Ser289Asn		Q567S6|Q9BW41	Missense_Mutation	SNP	pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING	p.S289N	ENST00000419564.2	37	c.866	CCDS6221.1	8	.	.	.	.	.	.	.	.	.	.	C	6.811	0.518634	0.13005	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.35	2.57	0.30868	Zinc finger, RING/FYVE/PHD-type (1);	0.379631	0.33161	N	0.005219	T	0.43523	0.1251	N	0.13299	0.325	0.29250	N	0.872035	B	0.06786	0.001	B	0.04013	0.001	T	0.27157	-1.0082	10	0.20046	T	0.44	-10.1927	8.4977	0.33138	0.0:0.6361:0.0:0.3639	.	289	P28328	PEX2_HUMAN	N	289	ENSP00000349543:S289N;ENSP00000400984:S289N;ENSP00000428590:S289N;ENSP00000428638:S289N	ENSP00000349543:S289N	S	-	2	0	PEX2	78058104	0.860000	0.29831	0.927000	0.36925	0.975000	0.68041	0.531000	0.23052	0.843000	0.35070	0.557000	0.71058	AGT	PEX2	-	NULL	ENSG00000164751		0.368	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX2	HGNC	protein_coding	OTTHUMT00000379122.1	-	0	39	0	C	NM_000318		77895549	-1	tier1	-	no_errors	ENST00000357039	ensembl	human	known	74_37	missense	39.62	32	21	SNP	0.792	T	T	77895549	C	T	77895549	3	4	153	1	0	0	0	0	1	0	0	0	11784	565	20	3	55	3	PEX2	8	77895549	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	119993	77895549	68468473	105	39073											
CDH17	1015	genome.wustl.edu	37	chr8	95182682	95182682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtgacggacatgtaggtgGattatcattaatatctttaa	12	15	10	4	1	2	1	1	1	1	0	2	3	2	3	0	4	0	1	0	4	5	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr8:95182682G>A	ENST00000027335.3	-	9	1133	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.P337S	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATGTAGGTGGATTATCATTA	0.403																																																	0													147	139	142					8																	95182682		2203	4300	6503	SO:0001583	missense	0			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1009C>T	8.37:g.95182682G>A	ENSP00000027335:p.Pro337Ser		Q15336|Q2M2E0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P337S	ENST00000027335.3	37	c.1009	CCDS6260.1	8	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034984	0.54896	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.59906	0.23;0.23	6.06	6.06	0.98353	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.114726	0.39909	N	0.001235	T	0.51686	0.1689	L	0.45470	1.425	0.58432	D	0.999999	B	0.33883	0.43	B	0.29267	0.1	T	0.44406	-0.9330	10	0.23891	T	0.37	-4.2564	19.4112	0.94673	0.0:0.0:1.0:0.0	.	337	Q12864	CAD17_HUMAN	S	337	ENSP00000027335:P337S;ENSP00000401468:P337S	ENSP00000027335:P337S	P	-	1	0	CDH17	95251858	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	4.997000	0.63921	2.880000	0.98712	0.650000	0.86243	CCA	CDH17	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000079112		0.403	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1	-	0	96	0	G	NM_004063		95182682	-1	tier1	-	no_errors	ENST00000027335	ensembl	human	known	74_37	missense	9.29	125	13	SNP	1.000	A	A	95182682	G	A	95182682	3	1	153	1	0	0	0	0	1	0	0	0	3109	1174	41	3	1529	3	CDH17	8	95182682	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	17287133	95182682	51181340	106	39074											
ANKRD46	157567	genome.wustl.edu	37	chr8	101534997	101534997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagtgaatggctttccatgGcactgtggaagaagaaagag	13	8	15	5	0	0	4	0	1	0	3	1	6	1	6	1	4	0	2	1	4	4	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr8:101534997G>A	ENST00000520552.1	-	5	634	c.473C>T	c.(472-474)gCc>gTc	p.A158V	ANKRD46_ENST00000519597.1_Missense_Mutation_p.A158V|ANKRD46_ENST00000335659.3_Missense_Mutation_p.A158V|ANKRD46_ENST00000519316.1_Missense_Mutation_p.A105V|ANKRD46_ENST00000520311.1_Missense_Mutation_p.A158V	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	158						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			GCTTTCCATGGCACTGTGGAA	0.458																																																	0													85	82	83					8																	101534997		2203	4300	6503	SO:0001583	missense	0			AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"Ankyrin repeat domain containing"	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.473C>T	8.37:g.101534997G>A	ENSP00000429015:p.Ala158Val		Q6P9B7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A158V	ENST00000520552.1	37	c.473	CCDS59109.1	8	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002718	0.54254	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990	T;T;T;T;T;T	0.46063	0.88;0.91;0.91;0.91;1.37;0.95	6.04	6.04	0.98038	.	0.051950	0.85682	D	0.000000	T	0.39963	0.1098	L	0.36672	1.1	0.58432	D	0.999999	B;B	0.22800	0.016;0.075	B;B	0.19666	0.022;0.026	T	0.11446	-1.0587	10	0.52906	T	0.07	-22.3829	20.5948	0.99439	0.0:0.0:1.0:0.0	.	158;158	Q86W74-2;Q86W74	.;ANR46_HUMAN	V	158;158;158;158;105;158	ENSP00000429015:A158V;ENSP00000335287:A158V;ENSP00000430056:A158V;ENSP00000428388:A158V;ENSP00000430827:A105V;ENSP00000351881:A158V	ENSP00000335287:A158V	A	-	2	0	ANKRD46	101604173	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	8.053000	0.89449	2.873000	0.98535	0.563000	0.77884	GCC	ANKRD46	-	NULL	ENSG00000186106		0.458	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	ANKRD46	HGNC	protein_coding	OTTHUMT00000379899.1		0	22	0	G	NM_198401		101534997	-1			no_errors	ENST00000520552	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	A	A	101534997	G	A	101534997	3	1	153	1	0	0	0	0	1	0	0	0	674	1203	42	3	217	3	ANKRD46	8	101534997	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	6352315	101534997	44829025	107	39075											
RIMS2	9699	genome.wustl.edu	37	chr8	105257145	105257145	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtttctatctctgcagaAgcaggaggtaaaaaactaag	14	12	9	6	0	2	1	0	0	2	1	3	2	2	2	0	2	3	4	0	2	6	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr8:105257145A>C	ENST00000436393.2	+	24	3631	c.3390A>C	c.(3388-3390)gaA>gaC	p.E1130D	RIMS2_ENST00000262231.10_Splice_Site_p.K951N|RIMS2_ENST00000406091.3_Splice_Site_p.K1112N|RIMS2_ENST00000339750.2_Splice_Site_p.E48D|RIMS2_ENST00000507740.1_Splice_Site_p.K926N			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1174					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)			TCTCTGCAGAAGCAGGAGGTA	0.443										HNSCC(12;0.0054)																																							0													106	107	107					8																	105257145		1861	4107	5968	SO:0001630	splice_region_variant	0			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.3389-1A>C	8.37:g.105257145A>C			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.K1112N	ENST00000436393.2	37	c.3336		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.86|12.86	2.063117|2.063117	0.36373|0.36373	.|.	.|.	ENSG00000176406|ENSG00000176406	ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750|ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740	T;T;T;T|T;T;T	0.19532|0.15834	2.14;2.64;2.19;2.17|2.7;2.39;2.39	5.05|5.05	1.46|1.46	0.22682|0.22682	.|.	.|.	.|.	.|.	.|.	T|T	0.16685|0.16685	0.0401|0.0401	N|N	0.04508|0.04508	-0.205|-0.205	0.45108|0.45108	D|D	0.998125|0.998125	D|B;B;D	0.58620|0.61080	0.983|0.002;0.001;0.989	P|B;B;D	0.52758|0.72625	0.708|0.004;0.001;0.978	T|T	0.08659|0.08659	-1.0711|-1.0711	9|9	0.26408|0.44086	T|T	0.33|0.13	.|.	9.0632|9.0632	0.36447|0.36447	0.7079:0.0:0.2921:0.0|0.7079:0.0:0.2921:0.0	.|.	1130|951;926;1112	D6RA03|Q9UQ26-1;Q9UQ26-3;F8WD47	.|.;.;.	D|N	1119;1130;48;48|1149;1112;1174;951;926	ENSP00000386228:E1119D;ENSP00000390665:E1130D;ENSP00000428478:E48D;ENSP00000342051:E48D|ENSP00000384892:K1112N;ENSP00000262231:K951N;ENSP00000423559:K926N	ENSP00000342051:E48D|ENSP00000262231:K951N	E|K	+|+	3|3	2|2	RIMS2|RIMS2	105326321|105326321	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	3.242000|3.242000	0.51384|0.51384	0.106000|0.106000	0.17784|0.17784	0.528000|0.528000	0.53228|0.53228	GAA|AAA	RIMS2	-	NULL	ENSG00000176406		0.443	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1		0	18	0	A	NM_001100117	Missense_Mutation	105257145	1			no_errors	ENST00000406091	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	C	C	105257145	A	C	105257145	5	2	153	1	0	0	0	0	0	0	1	0	13413	86	3	4	3610	4	RIMS2	8	105257145	Splice_Site	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	3722148	105257145	41106877	108	39076											
CSMD3	114788	genome.wustl.edu	37	chr8	114186075	114186075	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcggatcttgtccccgacGtcgaatcttgtgccatataa	9	12	9	11	4	2	0	0	0	2	0	4	3	3	1	3	1	2	0	3	1	4	5	rs151216366		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr8:114186075G>A	ENST00000297405.5	-	4	829	c.585C>T	c.(583-585)gaC>gaT	p.D195D	CSMD3_ENST00000343508.3_Silent_p.D155D|CSMD3_ENST00000455883.2_Silent_p.D195D|CSMD3_ENST00000519485.1_5'Flank|CSMD3_ENST00000352409.3_Silent_p.D195D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	195	Sushi 1. {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						TGTCCCCGACGTCGAATCTTG	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								G	,,	0,4406		0,0,2203	120	109	112		585,585,465	-8.5	0.5	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	195/3539,195/3708,155/3668	114186075	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.585C>T	8.37:g.114186075G>A			Q96PZ3	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.D195	ENST00000297405.5	37	c.585	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.463	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	46	0	G	NM_052900		114186075	-1	tier1	rs151216366	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.124	A	A	114186075	G	A	114186075	2	1	153	1	0	0	0	0	0	0	0	1	3955	1136	40	1		1	CSMD3	8	114186075	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	8928930	114186075	32177947	109	39077											
DSCC1	79075	genome.wustl.edu	37	chr8	120847177	120847177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaactttaacaccattttGcatcgaagaatgagaatatt	17	13	5	6	1	0	2	0	1	0	2	1	4	0	2	1	0	3	1	1	0	7	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr8:120847177G>C	ENST00000313655.4	-	9	1352	c.1138C>G	c.(1138-1140)Caa>Gaa	p.Q380E	TAF2_ENST00000378164.2_5'Flank	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	380					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACACCATTTTGCATCGAAGAA	0.323																																																	0													83	86	85					8																	120847177		2203	4298	6501	SO:0001583	missense	0				CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"	613203	"defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.1138C>G	8.37:g.120847177G>C	ENSP00000322180:p.Gln380Glu		Q969N5	Missense_Mutation	SNP	pfam_Sister_chromatid_cohesion_Dcc1	p.Q380E	ENST00000313655.4	37	c.1138	CCDS6330.1	8	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610328	0.66558	.	.	ENSG00000136982	ENST00000313655	T	0.44482	0.92	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	L	0.60455	1.87	0.53005	D	0.999961	P	0.35174	0.488	B	0.32928	0.155	T	0.35151	-0.9800	10	0.02654	T	1	-17.3673	18.8521	0.92237	0.0:0.0:1.0:0.0	.	380	Q9BVC3	DCC1_HUMAN	E	380	ENSP00000322180:Q380E	ENSP00000322180:Q380E	Q	-	1	0	DSCC1	120916358	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.737000	0.84957	2.538000	0.85594	0.655000	0.94253	CAA	DSCC1	-	NULL	ENSG00000136982		0.323	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCC1	HGNC	protein_coding	OTTHUMT00000381443.1	-	0	92	0	G	NM_024094		120847177	-1	tier1	-	no_errors	ENST00000313655	ensembl	human	known	74_37	missense	16.13	78	15	SNP	1.000	C	C	120847177	G	C	120847177	3	2	153	1	0	0	0	0	1	0	0	0	4784	1328	46	5	47	5	DSCC1	8	120847177	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	6661102	120847177	25516845	110	39078											
SLA	6503	genome.wustl.edu	37	chr8	134057315	134057315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgggcagacggaaaatgCggtaatgctttacctgcctg	9	11	13	8	2	0	1	0	0	0	1	0	2	0	2	2	3	4	4	2	3	4	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr8:134057315C>T	ENST00000338087.5	-	7	1217	c.398G>A	c.(397-399)cGc>cAc	p.R133H	SLA_ENST00000395352.3_Missense_Mutation_p.R150H|SLA_ENST00000427060.2_Missense_Mutation_p.R173H|TG_ENST00000377869.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.R25H	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	133	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)	p.R133H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			ACGGAAAATGCGGTAATGCTT	0.537																																																	1	Substitution - Missense(1)	large_intestine(1)											176	142	154					8																	134057315		2203	4300	6503	SO:0001583	missense	0				CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.398G>A	8.37:g.134057315C>T	ENSP00000337548:p.Arg133His		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.R173H	ENST00000338087.5	37	c.518	CCDS6370.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.222711	0.95139	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000522119	T;T;T;T;D	0.93488	1.34;1.34;1.34;1.34;-3.23	5.77	5.77	0.91146	SH2 motif (5);	0.046432	0.85682	D	0.000000	D	0.96491	0.8855	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.989;0.989	D	0.96652	0.9482	10	0.87932	D	0	-29.5587	17.4758	0.87658	0.0:1.0:0.0:0.0	.	133;133;133	Q6FI01;Q5TZW1;Q13239	.;.;SLAP1_HUMAN	H	133;173;150;25;133	ENSP00000337548:R133H;ENSP00000394049:R173H;ENSP00000378759:R150H;ENSP00000427928:R25H;ENSP00000430596:R133H	ENSP00000337548:R133H	R	-	2	0	SLA	134126497	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.137000	0.77295	2.737000	0.93849	0.561000	0.74099	CGC	SLA	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000155926		0.537	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA	HGNC	protein_coding	OTTHUMT00000378771.1		0	30	0	C			134057315	-1			no_errors	ENST00000427060	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	134057315	C	T	134057315	3	4	153	1	0	0	0	0	1	0	0	0	14408	768	27	1	444	1	SLA	8	134057315	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	13210138	134057315	12306707	111	39079											
ALDH1A1	216	genome.wustl.edu	37	chr9	75524572	75524572	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatggctttatcaatgtctTtggtaaacactcctgctgat	9	17	7	8	0	2	1	1	1	1	0	3	1	3	1	1	2	2	3	1	2	5	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr9:75524572T>G	ENST00000297785.3	-	11	1358	c.1304A>C	c.(1303-1305)aAa>aCa	p.K435T		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	435					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	ATCAATGTCTTTGGTAAACAC	0.393																																																	0													187	166	173					9																	75524572		2203	4300	6503	SO:0001583	missense	0			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1304A>C	9.37:g.75524572T>G	ENSP00000297785:p.Lys435Thr		O00768|Q5SYR1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.K435T	ENST00000297785.3	37	c.1304	CCDS6644.1	9	.	.	.	.	.	.	.	.	.	.	T	9.544	1.114122	0.20795	.	.	ENSG00000165092	ENST00000297785	T	0.15834	2.39	5.72	3.34	0.38264	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.351127	0.30101	N	0.010418	T	0.10981	0.0268	N	0.12663	0.25	0.80722	D	1	B;B	0.20368	0.001;0.044	B;B	0.29176	0.005;0.099	T	0.11155	-1.0599	10	0.52906	T	0.07	.	10.2908	0.43594	0.0:0.1364:0.0:0.8636	.	356;435	B4DDF8;P00352	.;AL1A1_HUMAN	T	435	ENSP00000297785:K435T	ENSP00000297785:K435T	K	-	2	0	ALDH1A1	74714392	1.000000	0.71417	0.917000	0.36280	0.150000	0.21749	1.034000	0.30204	1.001000	0.39076	0.533000	0.62120	AAA	ALDH1A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000165092		0.393	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	-	0	36	0	T			75524572	-1	tier1	-	no_errors	ENST00000297785	ensembl	human	known	74_37	missense	54.29	16	19	SNP	0.963	G	G	75524572	T	G	75524572	3	3	153	1	0	0	0	0	1	0	0	0	490	1841	64	4	213	4	ALDH1A1	9	75524572	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09		75524572	65688859	112	39080											
SVEP1	79987	genome.wustl.edu	37	chr9	113312185	113312185	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaaaactgtgtagcaggTaacagtgctcctcctttggg	9	12	10	10	0	1	0	1	0	0	0	3	0	3	0	2	2	4	4	2	2	4	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr9:113312185T>G	ENST00000401783.2	-	2	1067	c.731A>C	c.(730-732)tAc>tCc	p.Y244S	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y221S|SVEP1_ENST00000374461.1_Missense_Mutation_p.Y221S|SVEP1_ENST00000302728.8_Missense_Mutation_p.Y244S|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	244	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTGTAGCAGGTAACAGTGCTC	0.463																																																	0													88	83	85					9																	113312185		1944	4140	6084	SO:0001583	missense	0			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.731A>C	9.37:g.113312185T>G	ENSP00000384917:p.Tyr244Ser		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.Y244S	ENST00000401783.2	37	c.731	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	T	18.55	3.647698	0.67358	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.38	1.1	0.20463	von Willebrand factor, type A (3);	0.127269	0.56097	D	0.000039	D	0.84479	0.5481	M	0.80616	2.505	0.34298	D	0.68397	D;D;D	0.55385	0.971;0.971;0.963	P;P;P	0.59424	0.857;0.784;0.678	D	0.87466	0.2411	10	0.87932	D	0	.	10.9604	0.47383	0.4381:0.0:0.0:0.5619	.	244;244;244	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	S	244;221;244;221	ENSP00000384917:Y244S;ENSP00000363593:Y221S;ENSP00000304118:Y244S;ENSP00000363585:Y221S	ENSP00000304118:Y244S	Y	-	2	0	SVEP1	112352006	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	1.498000	0.35660	-0.035000	0.13691	0.460000	0.39030	TAC	SVEP1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000165124		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		-	0	26	0	T			113312185	-1	tier1	-	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	G	G	113312185	T	G	113312185	3	3	153	1	0	0	0	0	1	0	0	0	15467	1638	57	4	10172	4	SVEP1	9	113312185	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	37787613	113312185	27901246	113	39081											
PAPPA	5069	genome.wustl.edu	37	chr9	119109489	119109489	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaccctgcacaattgaaagGtatcaagaacgccttcccca	13	8	6	14	1	2	2	2	1	0	1	3	2	3	2	4	1	2	2	4	1	5	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr9:119109489G>A	ENST00000328252.3	+	15	4333		c.e15+1		PAPPA_ENST00000534838.1_Splice_Site	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAATTGAAAGGTATCAAGAAC	0.537																																																	0													123	92	103					9																	119109489		2203	4300	6503	SO:0001630	splice_region_variant	0				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.3964+1G>A	9.37:g.119109489G>A			B1AMF9|Q08371|Q68G52|Q9UDK7	Splice_Site	SNP	-	e15+1	ENST00000328252.3	37	c.3964+1	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293974	0.81025	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA	118149310	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	9.827000	0.99397	2.775000	0.95449	0.655000	0.94253	.	PAPPA	-	-	ENSG00000182752		0.537	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1		0	29	0	G	NM_002581	Intron	119109489	1			no_errors	ENST00000328252	ensembl	human	known	74_37	splice_site	6.25	30	2	SNP	1.000	A	A	119109489	G	A	119109489	5	1	153	1	0	0	0	0	0	0	1	0	11471	1275	44	3	4023	3	PAPPA	9	119109489	Splice_Site	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	5797304	119109489	22103942	114	39082											
RABGAP1	23637	genome.wustl.edu	37	chr9	125752361	125752361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatactttacagttttgcCactgccttccgccgttctgc	5	14	8	14	3	1	0	0	0	1	0	2	1	2	1	4	1	5	2	4	1	2	7	rs146982162		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr9:125752361C>T	ENST00000373647.4	+	6	926	c.792C>T	c.(790-792)gcC>gcT	p.A264A		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	264	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						ACAGTTTTGCCACTGCCTTCC	0.448													C|||	1	0.000199681	0	0	5008	,	,		17141	0.001		0	False		,,,				2504	0																0													114	109	111					9																	125752361		2203	4300	6503	SO:0001819	synonymous_variant	0			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.792C>T	9.37:g.125752361C>T			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.A264	ENST00000373647.4	37	c.792	CCDS6848.2	9																																																																																			RABGAP1	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000011454		0.448	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3		0	41	0	C	NM_012197		125752361	1			no_errors	ENST00000373647	ensembl	human	known	74_37	silent	8.57	32	3	SNP	1.000	T	T	125752361	C	T	125752361	2	4	153	1	0	0	0	0	0	0	0	1	13009	581	21	3		3	RABGAP1	9	125752361	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	6642872	125752361	15461070	115	39083											
SH2D3C	10044	genome.wustl.edu	37	chr9	130501134	130501134	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgctggcaccctgactgCcccagagaaggcgcatctgg	7	7	13	14	1	1	2	0	1	1	1	1	3	1	2	3	3	3	4	3	3	1	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr9:130501134C>A	ENST00000314830.8	-	12	2587	c.2474G>T	c.(2473-2475)gGc>gTc	p.G825V	SH2D3C_ENST00000373276.3_Missense_Mutation_p.G757V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.G667V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.G665V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.G668V|SH2D3C_ENST00000429553.1_Missense_Mutation_p.G471V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	825	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						ACCCTGACTGCCCCAGAGAAG	0.652																																																	0													47	40	42					9																	130501134		2199	4298	6497	SO:0001583	missense	0			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.2474G>T	9.37:g.130501134C>A	ENSP00000317817:p.Gly825Val		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.G825V	ENST00000314830.8	37	c.2474	CCDS6877.1	9	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957371	0.92726	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.61274	0.97;0.98;0.57;1.03;0.12;0.7	5.76	5.76	0.90799	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.043285	0.85682	D	0.000000	T	0.80031	0.4549	M	0.85777	2.775	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	0.82428	-0.0462	10	0.87932	D	0	-21.3276	18.9497	0.92637	0.0:1.0:0.0:0.0	.	665;825;757;668;667	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	V	668;667;757;665;471;825	ENSP00000362374:G668V;ENSP00000388536:G667V;ENSP00000362373:G757V;ENSP00000362371:G665V;ENSP00000394632:G471V;ENSP00000317817:G825V	ENSP00000317817:G825V	G	-	2	0	SH2D3C	129540955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.773000	0.85462	2.713000	0.92767	0.655000	0.94253	GGC	SH2D3C	-	smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000095370		0.652	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D3C	HGNC	protein_coding	OTTHUMT00000054264.1	-	0	29	0	C	NM_005489		130501134	-1	tier1	-	no_errors	ENST00000314830	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A	A	130501134	C	A	130501134	3	1	153	1	0	0	0	0	1	0	0	0	14279	739	26	3	112	3	SH2D3C	9	130501134	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	4748773	130501134	10712297	116	39084											
CIZ1	25792	genome.wustl.edu	37	chr9	130928628	130928628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgttccgggcgttgattgCgcaccggcggctcacaggtc	5	8	15	13	6	1	1	1	1	0	0	3	1	2	1	2	4	2	4	2	4	0	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr9:130928628C>T	ENST00000393608.1	-	17	2747	c.2545G>A	c.(2545-2547)Gca>Aca	p.A849T	CIZ1_ENST00000357558.5_Missense_Mutation_p.A821T|CIZ1_ENST00000538431.1_Missense_Mutation_p.A875T|CIZ1_ENST00000372954.1_Missense_Mutation_p.A769T|CIZ1_ENST00000476727.2_5'Flank|CIZ1_ENST00000541172.1_Missense_Mutation_p.A748T|CIZ1_ENST00000372938.5_Missense_Mutation_p.A849T|CIZ1_ENST00000325721.8_Missense_Mutation_p.A820T|CIZ1_ENST00000372948.3_Missense_Mutation_p.A793T|CIZ1_ENST00000277465.4_Missense_Mutation_p.A821T	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	849					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						GCGTTGATTGCGCACCGGCGG	0.632																																																	0													44	47	46					9																	130928628		2177	4271	6448	SO:0001583	missense	0			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.2545G>A	9.37:g.130928628C>T	ENSP00000377232:p.Ala849Thr		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.A875T	ENST00000393608.1	37	c.2623	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646624	0.87958	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.50001	0.76;0.95;1.08;1.11;0.94;1.38;1.11;0.77;0.95;1.52	4.45	4.45	0.53987	.	0.000000	0.52532	D	0.000070	T	0.57344	0.2047	L	0.36672	1.1	0.32807	D	0.500926	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.85130	0.979;0.997;0.975;0.996;0.993;0.98;0.98	T	0.65207	-0.6224	10	0.66056	D	0.02	-26.737	12.8966	0.58104	0.0:1.0:0.0:0.0	.	875;788;793;769;849;820;821	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	T	769;849;875;821;820;788;748;821;793;849;771	ENSP00000362045:A769T;ENSP00000377232:A849T;ENSP00000439244:A875T;ENSP00000350169:A821T;ENSP00000320374:A820T;ENSP00000445057:A748T;ENSP00000277465:A821T;ENSP00000362039:A793T;ENSP00000362029:A849T;ENSP00000398011:A771T	ENSP00000277465:A821T	A	-	1	0	CIZ1	129968449	0.997000	0.39634	0.960000	0.40013	0.942000	0.58702	3.018000	0.49625	2.768000	0.95171	0.561000	0.74099	GCA	CIZ1	-	NULL	ENSG00000148337		0.632	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	-	0	195	0	C	NM_012127		130928628	-1	tier1	-	no_errors	ENST00000538431	ensembl	human	known	74_37	missense	17.89	202	44	SNP	0.962	T	T	130928628	C	T	130928628	3	4	153	1	0	0	0	0	1	0	0	0	3448	768	27	1	155	1	CIZ1	9	130928628	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	427494	130928628	10284803	117	39085											
SETX	23064	genome.wustl.edu	37	chr9	135203054	135203054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagttttgccatgatcacGtaattgagctacataatcca	14	12	6	9	1	1	2	1	2	0	0	2	2	2	2	2	0	4	3	2	0	4	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr9:135203054G>A	ENST00000224140.5	-	10	4113	c.3931C>T	c.(3931-3933)Cgt>Tgt	p.R1311C	SETX_ENST00000372169.2_Missense_Mutation_p.R1311C|SETX_ENST00000393220.1_Missense_Mutation_p.R1311C	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1311					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)		CCATGATCACGTAATTGAGCT	0.413																																																	0													70	70	70					9																	135203054		2203	4300	6503	SO:0001583	missense	0			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.3931C>T	9.37:g.135203054G>A	ENSP00000224140:p.Arg1311Cys		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R1311C	ENST00000224140.5	37	c.3931	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924706	0.52653	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.94497	-3.41;-3.44;-3.11	5.47	5.47	0.80525	.	0.473828	0.21758	N	0.069577	D	0.97028	0.9029	M	0.71581	2.175	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97468	1.0039	10	0.87932	D	0	.	18.3556	0.90356	0.0:0.0:1.0:0.0	.	1311;1311;1311	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	C	1311	ENSP00000224140:R1311C;ENSP00000361242:R1311C;ENSP00000376913:R1311C	ENSP00000224140:R1311C	R	-	1	0	SETX	134192875	1.000000	0.71417	0.963000	0.40424	0.348000	0.29142	4.630000	0.61297	2.567000	0.86603	0.650000	0.86243	CGT	SETX	-	NULL	ENSG00000107290		0.413	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	-	0	55	0	G	NM_015046		135203054	-1	tier1	-	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	36.51	40	23	SNP	0.990	A	A	135203054	G	A	135203054	3	1	153	1	0	0	0	0	1	0	0	0	14186	1145	40	1	4170	1	SETX	9	135203054	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	4274426	135203054	6010377	118	39086											
TTF1	7270	genome.wustl.edu	37	chr9	135271877	135271877	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatagtatataagtttcCagggccgggcaatgttccta	10	12	10	9	2	0	0	0	0	0	0	3	1	2	0	3	2	0	4	3	2	6	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr9:135271877C>A	ENST00000334270.2	-	5	1838	c.1799G>T	c.(1798-1800)tGg>tTg	p.W600L		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	600					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TATAAGTTTCCAGGGCCGGGC	0.413																																																	0													107	99	101					9																	135271877		2203	4300	6503	SO:0001583	missense	0			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1799G>T	9.37:g.135271877C>A	ENSP00000333920:p.Trp600Leu		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.W600L	ENST00000334270.2	37	c.1799	CCDS6948.1	9	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696376	0.30052	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.09163	3.01	5.34	5.34	0.76211	.	0.340804	0.27773	N	0.017910	T	0.09158	0.0226	L	0.44542	1.39	0.30239	N	0.79517	B	0.32573	0.376	B	0.26770	0.073	T	0.10405	-1.0631	10	0.09084	T	0.74	.	14.6238	0.68605	0.0:1.0:0.0:0.0	.	600	Q15361	TTF1_HUMAN	L	600	ENSP00000333920:W600L	ENSP00000245588:W600L	W	-	2	0	TTF1	134261698	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	4.695000	0.61767	2.522000	0.85027	0.650000	0.86243	TGG	TTF1	-	NULL	ENSG00000125482		0.413	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2	-	0	82	0	C	NM_007344		135271877	-1	tier1	-	no_errors	ENST00000334270	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A	A	135271877	C	A	135271877	3	1	153	1	0	0	0	0	1	0	0	0	16767	595	21	3	946	3	TTF1	9	135271877	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	68823	135271877	5941554	119	39087											
TMEM8C	389827	genome.wustl.edu	37	chr9	136389832	136389832	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagcccccagactcacCgccacgaagaacagggtgaa	12	3	9	17	2	1	3	1	1	0	2	2	4	2	3	5	1	2	0	5	1	3	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr9:136389832C>T	ENST00000339996.3	-	1	236	c.135G>A	c.(133-135)gcG>gcA	p.A45A	TMEM8C_ENST00000413714.1_Intron	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	45					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CCAGACTCACCGCCACGAAGA	0.612																																																	0													81	65	70					9																	136389832		2203	4300	6503	SO:0001630	splice_region_variant	0			BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"transmembrane protein 226"	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.135+1G>A	9.37:g.136389832C>T				Silent	SNP	pfam_DUF3522	p.A45	ENST00000339996.3	37	c.135	CCDS35170.1	9																																																																																			TMEM8C	-	pfam_DUF3522	ENSG00000187616		0.612	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8C	HGNC	protein_coding	OTTHUMT00000356200.2	-	0	45	0	C	NM_001080483	Silent	136389832	-1	tier1	-	no_errors	ENST00000339996	ensembl	human	known	74_37	silent	14.00	43	7	SNP	1.000	T	T	136389832	C	T	136389832	5	4	153	1	0	0	0	0	0	0	1	0	16263	666	23	1	550	1	TMEM8C	9	136389832	Splice_Site	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	1117955	136389832	4823599	120	39088											
DIP2C	22982	genome.wustl.edu	37	chr10	408572	408572	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaagcggggttttggggagGgtgtttgctggcaccaaggc	6	9	18	8	1	0	0	0	0	0	0	0	1	0	1	2	7	2	4	2	7	2	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr10:408572G>C	ENST00000280886.6	-	22	2739	c.2652C>G	c.(2650-2652)acC>acG	p.T884T	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.T205T	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	884						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)		TTTTGGGGAGGGTGTTTGCTG	0.463																																																	0													81	88	86					10																	408572		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2652C>G	10.37:g.408572G>C			B4DPI5|Q5SS78	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.T884	ENST00000280886.6	37	c.2652	CCDS7054.1	10																																																																																			DIP2C	-	NULL	ENSG00000151240		0.463	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	-	0	42	0	G	NM_014974		408572	-1	tier1	-	no_errors	ENST00000280886	ensembl	human	known	74_37	silent	33.33	36	18	SNP	0.996	C	C	408572	G	C	408572	2	2	153	1	0	0	0	0	0	0	0	1	4543	1219	43	5		5	DIP2C	10	408572	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09		408572	135126175	121	39089											
PGBD3	267004	genome.wustl.edu	37	chr10	50724765	50724767	+	In_Frame_Del	DEL	TGG	TGG	-																															attacggtgaagaaatcgttTggtggtgctgtaactctacc																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr10:50724765_50724767delTGG	ENST00000374127.3	-	2	595_597	c.394_396delCCA	c.(394-396)ccadel	p.P132del	ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.P600del|PGBD3_ENST00000508005.2_In_Frame_Del_p.P132del|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.P600del|PGBD3_ENST00000603152.1_In_Frame_Del_p.P600del	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	132										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						AGAAATCGTTTGGTGGTGCTGTA	0.409																																																	0																																										SO:0001651	inframe_deletion	0			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.394_396delCCA	10.37:g.50724768_50724770delTGG	ENSP00000363242:p.Pro132del		B3KQC4|Q5W0M0|Q6PIH0	In_Frame_Del	DEL	NULL	p.P600in_frame_del	ENST00000374127.3	37	c.1800_1798	CCDS7230.1	10																																																																																			PGBD3	-	NULL	ENSG00000243251		0.409	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PGBD3	HGNC	protein_coding	OTTHUMT00000047988.1		0	67	0	TGG			50724767	-1	tier1		no_errors	ENST00000603152	ensembl	human	known	74_37	in_frame_del	16.18	57	11	DEL	1.000:0.999:0.998	-	-	50724767	TGG	-	50724765	7	5	153	1	0	1	0	1	0	0	0	0	11821	1799	63	0	1389	0	PGBD3	10	50724765	In_Frame_Del	DEL	TGG	TCGA-S8-A6BV-01A-21D-A31U-09	50316193	50724765	84809982	122	39090											
PBLD	64081	genome.wustl.edu	37	chr10	70043993	70043993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctaatgtcaacccttcCgtctggacgaagggaaattc	10	11	8	12	2	3	0	1	0	2	0	6	3	5	2	3	2	1	0	3	2	4	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr10:70043993C>T	ENST00000358769.2	-	10	1010	c.808G>A	c.(808-810)Gga>Aga	p.G270R	PBLD_ENST00000336578.1_Missense_Mutation_p.G237R|PBLD_ENST00000309049.4_Missense_Mutation_p.G270R	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	270					biosynthetic process (GO:0009058)|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 SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCAACCCTTCCGTCTGGACGA	0.468																																																	0													201	166	178					10																	70043993		2203	4300	6503	SO:0001583	missense	0			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.808G>A	10.37:g.70043993C>T	ENSP00000351619:p.Gly270Arg		A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF	p.G270R	ENST00000358769.2	37	c.808	CCDS7277.2	10	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566130	0.65651	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049	T;T;T	0.35421	1.31;1.31;1.31	6.03	4.04	0.47022	.	0.291393	0.31199	N	0.008065	T	0.35941	0.0949	L	0.55834	1.745	0.58432	D	0.999995	P	0.41232	0.743	B	0.39971	0.315	T	0.21999	-1.0229	10	0.39692	T	0.17	-4.7373	14.432	0.67257	0.0:0.7202:0.2798:0.0	.	270	P30039	PBLD_HUMAN	R	237;270;270	ENSP00000338041:G237R;ENSP00000351619:G270R;ENSP00000308466:G270R	ENSP00000308466:G270R	G	-	1	0	PBLD	69713999	0.909000	0.30893	0.010000	0.14722	0.005000	0.04900	2.240000	0.43088	1.517000	0.48917	0.655000	0.94253	GGA	PBLD	-	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF	ENSG00000108187		0.468	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PBLD	HGNC	protein_coding	OTTHUMT00000048314.1		0	35	0	C	NM_022129		70043993	-1			no_errors	ENST00000309049	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.569	T	T	70043993	C	T	70043993	3	4	153	1	0	0	0	0	1	0	0	0	11528	661	23	1	62	1	PBLD	10	70043993	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	19319228	70043993	65490754	123	39091											
NRG3	10718	genome.wustl.edu	37	chr10	84718755	84718755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagtgccacaaaatggtaAaagctacagtctcaaagcat	18	7	8	8	0	1	0	1	0	1	0	2	1	1	0	1	1	4	3	1	1	7	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr10:84718755A>G	ENST00000404547.1	+	6	1208	c.1208A>G	c.(1207-1209)aAa>aGa	p.K403R	NRG3_ENST00000372142.2_Missense_Mutation_p.K182R|NRG3_ENST00000537893.1_Missense_Mutation_p.K53R|NRG3_ENST00000556918.1_Missense_Mutation_p.K233R|NRG3_ENST00000372141.2_Missense_Mutation_p.K403R|NRG3_ENST00000404576.2_Missense_Mutation_p.K207R|NRG3_ENST00000545131.1_Missense_Mutation_p.K53R			P56975	NRG3_HUMAN	neuregulin 3	403					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)		CAAAATGGTAAAAGCTACAGT	0.408																																																	0													113	96	102					10																	84718755		2203	4300	6503	SO:0001583	missense	0			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.1208A>G	10.37:g.84718755A>G	ENSP00000384796:p.Lys403Arg		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.K403R	ENST00000404547.1	37	c.1208	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456526	0.63401	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.52754	1.36;1.34;0.65;0.65;0.65;0.65;0.65	5.4	4.24	0.50183	.	0.140352	0.43919	D	0.000514	T	0.38026	0.1025	N	0.26042	0.785	0.41530	D	0.988458	P;B;P;P	0.48162	0.906;0.211;0.59;0.906	P;B;B;P	0.46543	0.52;0.066;0.423;0.52	T	0.07868	-1.0750	10	0.25751	T	0.34	-14.4126	10.5709	0.45200	0.8376:0.1624:0.0:0.0	.	402;403;182;403	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	R	403;403;402;182;207;233;53;53	ENSP00000361214:K403R;ENSP00000384796:K403R;ENSP00000361215:K182R;ENSP00000385804:K207R;ENSP00000451376:K233R;ENSP00000441201:K53R;ENSP00000440377:K53R	ENSP00000361214:K403R	K	+	2	0	NRG3	84708735	1.000000	0.71417	0.937000	0.37676	0.996000	0.88848	4.576000	0.60915	0.853000	0.35312	0.482000	0.46254	AAA	NRG3	-	NULL	ENSG00000185737		0.408	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1		0	40	0	A	XM_166086		84718755	1			no_errors	ENST00000404547	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	G	G	84718755	A	G	84718755	3	3	153	1	0	0	0	0	1	0	0	0	10688	14	1	4	1398	4	NRG3	10	84718755	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	14674762	84718755	50815992	124	39092											
KIF20B	9585	genome.wustl.edu	37	chr10	91497155	91497155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttaaagggtctatccatGttagttcagctatcactgaa	11	16	7	7	0	3	1	2	1	1	0	4	1	4	1	1	1	1	3	1	1	6	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr10:91497155G>T	ENST00000371728.3	+	20	2622	c.2557G>T	c.(2557-2559)Gtt>Ttt	p.V853F	KIF20B_ENST00000416354.1_Missense_Mutation_p.V883F|KIF20B_ENST00000394289.2_Missense_Mutation_p.V853F|KIF20B_ENST00000260753.4_Missense_Mutation_p.V813F|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	853					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						GTCTATCCATGTTAGTTCAGC	0.318																																																	0													37	42	40					10																	91497155		2192	4291	6483	SO:0001583	missense	0			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.2557G>T	10.37:g.91497155G>T	ENSP00000360793:p.Val853Phe		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V883F	ENST00000371728.3	37	c.2647		10	.	.	.	.	.	.	.	.	.	.	G	9.593	1.126554	0.20959	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.71222	-0.39;-0.55;-0.45;-0.38	5.67	-5.01	0.02991	.	2.173650	0.01773	N	0.031279	T	0.60209	0.2251	L	0.54323	1.7	0.09310	N	1	P;B	0.37864	0.61;0.002	B;B	0.33690	0.168;0.003	T	0.55121	-0.8190	10	0.54805	T	0.06	1.8265	4.6311	0.12502	0.5264:0.0954:0.2819:0.0963	.	853;813	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	F	813;883;853;853	ENSP00000260753:V813F;ENSP00000411545:V883F;ENSP00000377830:V853F;ENSP00000360793:V853F	ENSP00000260753:V813F	V	+	1	0	KIF20B	91487135	0.000000	0.05858	0.000000	0.03702	0.773000	0.43773	0.150000	0.16263	-0.865000	0.04073	0.484000	0.47621	GTT	KIF20B	-	NULL	ENSG00000138182		0.318	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	-	0	76	0	G	NM_016195		91497155	1	tier1	-	no_errors	ENST00000416354	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T	T	91497155	G	T	91497155	3	4	153	1	0	0	0	0	1	0	0	0	8314	1377	48	3	2511	3	KIF20B	10	91497155	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	6778400	91497155	44037592	125	39093											
PCGF5	84333	genome.wustl.edu	37	chr10	92982738	92982738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgacggaatgcctccataCatgtaagtattcttttaggt	11	14	9	7	1	1	1	0	1	1	0	2	2	2	2	2	2	2	2	2	2	5	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr10:92982738C>T	ENST00000336126.5	+	2	342	c.110C>T	c.(109-111)aCa>aTa	p.T37I	PCGF5_ENST00000371687.2_Missense_Mutation_p.T37I|PCGF5_ENST00000490164.1_3'UTR|PCGF5_ENST00000543648.1_Missense_Mutation_p.T37I	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						TGCCTCCATACATGTAAGTAT	0.308																																					Colon(178;732 2696 46441 50370)												0													116	118	117					10																	92982738		2203	4300	6503	SO:0001583	missense	0			AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	28264	protein-coding gene	gene with protein product			"ring finger protein (C3HC4 type) 159"	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.110C>T	10.37:g.92982738C>T	ENSP00000337500:p.Thr37Ile		B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T37I	ENST00000336126.5	37	c.110	CCDS7413.1	10	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320837	0.81469	.	.	ENSG00000180628	ENST00000543648;ENST00000371687;ENST00000336126	T;T;T	0.56275	2.18;0.47;2.18	5.72	5.72	0.89469	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.096778	0.64402	D	0.000001	T	0.61652	0.2364	L	0.53780	1.695	0.80722	D	1	D	0.56521	0.976	P	0.51806	0.68	T	0.58142	-0.7688	9	.	.	.	-7.7371	19.8891	0.96923	0.0:1.0:0.0:0.0	.	37	Q86SE9	PCGF5_HUMAN	I	37	ENSP00000445704:T37I;ENSP00000360752:T37I;ENSP00000337500:T37I	.	T	+	2	0	PCGF5	92972718	1.000000	0.71417	0.999000	0.59377	0.696000	0.40369	7.228000	0.78079	2.689000	0.91719	0.655000	0.94253	ACA	PCGF5	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000180628		0.308	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF5	HGNC	protein_coding	OTTHUMT00000049363.1	-	0	38	0	C	NM_032373		92982738	1	tier1	-	no_errors	ENST00000336126	ensembl	human	known	74_37	missense	12.77	41	6	SNP	1.000	T	T	92982738	C	T	92982738	3	4	153	1	0	0	0	0	1	0	0	0	11616	478	17	3	112	3	PCGF5	10	92982738	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	1485583	92982738	42552009	126	39094											
TRIM5	85363	genome.wustl.edu	37	chr11	5686747	5686747	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtttagaagttataaggagGggtaagttatgtgtgtcttg	10	16	14	1	0	1	1	0	0	1	1	1	2	1	2	0	3	0	4	0	3	6	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr11:5686747G>T	ENST00000380034.3	-	8	1152				TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_Missense_Mutation_p.P345H|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000305836.5_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5						activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTATAAGGAGGGGTAAGTTAT	0.299											OREG0003727	type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													74	80	78					11																	5686747		2185	4297	6482	SO:0001627	intron_variant	0			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.896-122C>A	11.37:g.5686747G>T		628	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.P345H	ENST00000380034.3	37	c.1034	CCDS31393.1	11	.	.	.	.	.	.	.	.	.	.	G	4.947	0.175924	0.09443	.	.	ENSG00000132256	ENST00000396847	T	0.69561	-0.41	3.52	-3.42	0.04825	.	.	.	.	.	T	0.62708	0.2450	.	.	.	0.09310	N	1	D	0.63046	0.992	P	0.51385	0.668	T	0.56884	-0.7905	8	0.87932	D	0	.	4.0617	0.09841	0.3135:0.3793:0.3072:0.0	.	345	Q9C035-3	.	H	345	ENSP00000380058:P345H	ENSP00000380058:P345H	P	-	2	0	TRIM5	5643323	0.000000	0.05858	0.001000	0.08648	0.105000	0.19272	-0.005000	0.12855	-0.510000	0.06523	0.563000	0.77884	CCC	TRIM5	-	NULL	ENSG00000132256		0.299	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM5	HGNC	protein_coding	OTTHUMT00000143360.3	-	0	55	0	G	NM_033034		5686747	-1	tier1	-	no_errors	ENST00000396847	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.001	T	T	5686747	G	T	5686747	1	4	153	0	1	0	0	0	0	0	0	0	16573	1232	43	3		3	TRIM5	11	5686747	Intron	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09		5686747	129319769	127	39095											
OR56B1	387748	genome.wustl.edu	37	chr11	5758475	5758475	+	Silent	SNP	A	A	T	1	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	ctgaactcagctgaagctgcAgccaaggccctgagcacttg	10	7	11	13	0	1	3	1	3	0	0	1	3	1	3	2	1	6	4	2	1	3	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr11:5758475A>T	ENST00000317121.3	+	1	795	c.729A>T	c.(727-729)gcA>gcT	p.A243A	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CTGAAGCTGCAGCCAAGGCCC	0.418																																																	0													143	137	139					11																	5758475		2201	4297	6498	SO:0001819	synonymous_variant	0			BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"GPCR / Class A : Olfactory receptors"	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.729A>T	11.37:g.5758475A>T			B2RNY6|B3KV42|Q6IF76	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A243	ENST00000317121.3	37	c.729	CCDS31395.1	11																																																																																			OR56B1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181023		0.418	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B1	HGNC	protein_coding	OTTHUMT00000143354.1	-	0	61	0	A	NM_001005180		5758475	1	tier1	-	no_errors	ENST00000317121	ensembl	human	known	74_37	silent	12.24	43	6	SNP	0.021	T	T	5758475	A	T	5758475	2	4	153	1	0	0	0	0	0	0	0	1	11176	175	7	5		5	OR56B1	11	5758475	Silent	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	71728	5758475	129248041	128	39096											
OR6A2	8590	genome.wustl.edu	37	chr11	6815962	6815962	+	Silent	SNP	A	A	G	1	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	ttcacacatcccttctatacAtttctgctagctttcttggg	7	17	5	12	0	4	0	1	0	3	0	5	0	5	0	1	1	3	2	1	1	3	8			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr11:6815962A>G	ENST00000332601.3	-	1	1166	c.978T>C	c.(976-978)aaT>aaC	p.N326N		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	326					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)		CCTTCTATACATTTCTGCTAG	0.458																																																	0													102	103	103					11																	6815962		2201	4296	6497	SO:0001819	synonymous_variant	0			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.978T>C	11.37:g.6815962A>G			Q3MJC7|Q6IF35|Q9H206	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N326	ENST00000332601.3	37	c.978	CCDS7772.1	11																																																																																			OR6A2	-	NULL	ENSG00000184933		0.458	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6A2	HGNC	protein_coding	OTTHUMT00000385981.1	-	0	88	0	A	NM_003696		6815962	-1	tier1	-	no_errors	ENST00000332601	ensembl	human	known	74_37	silent	17.57	61	13	SNP	0.001	G	G	6815962	A	G	6815962	2	3	153	1	0	0	0	0	0	0	0	1	11225	214	8	4		4	OR6A2	11	6815962	Silent	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	1057487	6815962	128190554	129	39097											
SPRYD5	84767	genome.wustl.edu	37	chr11	55657514	55657514	+	Splice_Site	SNP	A	A	T	1	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	gacagcctcagtggattcagAggtgagtgtcagcccattgg	9	9	14	9	0	3	2	3	1	0	1	3	4	3	3	2	3	2	0	2	3	0	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr11:55657514A>T	ENST00000449290.2	+	6	950	c.858A>T	c.(856-858)agA>agT	p.R286S	TRIM51_ENST00000244891.3_Splice_Site_p.R143S	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	286	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GTGGATTCAGAGGTGAGTGTC	0.478																																																	0													47	43	44					11																	55657514		2201	4295	6496	SO:0001630	splice_region_variant	0			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.859+1A>T	11.37:g.55657514A>T			A6NMG2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R286S	ENST00000449290.2	37	c.858		11	.	.	.	.	.	.	.	.	.	.	.	7.839	0.721422	0.15372	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.07327	3.2;3.2	.	.	.	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.08179	0.0204	L	0.55017	1.72	0.09310	N	1	B	0.26708	0.157	B	0.25884	0.064	T	0.32508	-0.9904	7	0.37606	T	0.19	.	.	.	.	.	286	Q9BSJ1	SPRY5_HUMAN	S	286;143	ENSP00000395086:R286S;ENSP00000244891:R143S	ENSP00000244891:R143S	R	+	3	2	SPRYD5	55414090	0.369000	0.25039	0.046000	0.18839	0.316000	0.28119	0.679000	0.25291	0.138000	0.18790	0.136000	0.15936	AGA	TRIM51	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000124900		0.478	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	TRIM51	HGNC	protein_coding	OTTHUMT00000391522.1	-	0	93	0	A	NM_032681	Missense_Mutation	55657514	1	tier1	-	no_errors	ENST00000449290	ensembl	human	known	74_37	missense	14.58	82	14	SNP	0.053	T	T	55657514	A	T	55657514	5	4	153	1	0	0	0	0	0	0	1	0	15158	318	11	5	876	5	SPRYD5	11	55657514	Splice_Site	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	48841552	55657514	79349002	130	39098											
TMEM109	79073	genome.wustl.edu	37	chr11	60689319	60689319	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgtggggagcaggggcCctggtcgtctactggctgct	3	10	17	11	1	1	0	0	0	1	0	2	1	1	1	1	6	4	4	1	6	1	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr11:60689319C>G	ENST00000227525.3	+	4	817	c.414C>G	c.(412-414)gcC>gcG	p.A138A	TMEM132A_ENST00000453848.2_5'Flank|TMEM132A_ENST00000005286.4_5'Flank|TMEM109_ENST00000536171.1_Silent_p.A138A|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	138					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						GAGCAGGGGCCCTGGTCGTCT	0.632																																																	0													107	111	110					11																	60689319		2203	4299	6502	SO:0001819	synonymous_variant	0				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.414C>G	11.37:g.60689319C>G				Silent	SNP	NULL	p.A138	ENST00000227525.3	37	c.414	CCDS7996.1	11																																																																																			TMEM109	-	NULL	ENSG00000110108		0.632	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM109	HGNC	protein_coding	OTTHUMT00000396343.1	-	0	142	0	C	NM_024092		60689319	1	tier1	-	no_errors	ENST00000227525	ensembl	human	known	74_37	silent	17.74	102	22	SNP	1.000	G	G	60689319	C	G	60689319	2	3	153	1	0	0	0	0	0	0	0	1	16072	610	22	5		5	TMEM109	11	60689319	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	5031805	60689319	74317197	131	39099											
SCGB1A1	7356	genome.wustl.edu	37	chr11	62190554	62190554	+	Silent	SNP	G	G	A	0	0	1	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	aaaatagcccaaagctcactGtgtaattagcatttagaagc	16	10	7	8	0	1	1	1	0	0	1	1	1	1	1	1	0	4	3	1	0	8	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr11:62190554G>A	ENST00000278282.2	+	3	328	c.267G>A	c.(265-267)ctG>ctA	p.L89L	SCGB1A1_ENST00000534397.1_Silent_p.L54L|CTD-2531D15.4_ENST00000528983.1_RNA	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	89					embryo implantation (GO:0007566)|female pregnancy (GO:0007565)|negative regulation of interferon-gamma production (GO:0032689)|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 T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of inflammatory response (GO:0050727)|regulation of mRNA stability (GO:0043488)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fibroblast growth factor (GO:0071774)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to silicon dioxide (GO:0034021)|response to xenobiotic stimulus (GO:0009410)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nuclear envelope (GO:0005635)|rough endoplasmic reticulum (GO:0005791)|secretory granule (GO:0030141)	phospholipase A2 inhibitor activity (GO:0019834)			lung(1)	1						AAAGCTCACTGTGTAATTAGC	0.438																																																	0													162	160	161					11																	62190554		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS8020.1	11q12.3	2011-12-14	2002-03-22	2002-03-22	ENSG00000149021	ENSG00000149021		"Secretoglobins"	12523	protein-coding gene	gene with protein product	"Uteroglobin (Clara-cell specific 10-kD protein)"	192020	"uteroglobin"	UGB		1284526, 22155607	Standard	NM_003357		Approved	CC10, CCSP, CC16	uc001ntj.3	P11684	OTTHUMG00000167526	ENST00000278282.2:c.267G>A	11.37:g.62190554G>A			B2R5F2|Q6FHH3|Q9UCM2|Q9UCM4	Silent	SNP	pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin	p.L89	ENST00000278282.2	37	c.267	CCDS8020.1	11																																																																																			SCGB1A1	-	pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin	ENSG00000149021		0.438	SCGB1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1A1	HGNC	protein_coding	OTTHUMT00000394925.1		0	60	0	G	NM_003357		62190554	1			no_errors	ENST00000278282	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.264	A	A	62190554	G	A	62190554	2	1	153	1	0	0	0	0	0	0	0	1	13939	1364	48	3		3	SCGB1A1	11	62190554	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	1501235	62190554	72815962	132	39100											
C2CD2L	9854	genome.wustl.edu	37	chr11	118984980	118984980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcagacgagacaacccGttcggatatttctgagaggc	12	7	13	9	3	1	3	0	1	1	3	2	7	1	5	1	3	2	2	1	3	3	3	rs376731505		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr11:118984980G>A	ENST00000528586.1	+	9	1128	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	C2CD2L_ENST00000336702.3_Missense_Mutation_p.R606H			O14523	C2C2L_HUMAN	C2CD2-like	605						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GAGACAACCCGTTCGGATATT	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		18979	0		0	False		,,,				2504	0																0								G	HIS/ARG	1,4399	4.2+/-10.8	0,1,2199	134	135	135		1817	4.5	1	11		135	0,8590		0,0,4295	no	missense	C2CD2L	NM_014807.3	29	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	606/708	118984980	1,12989	2200	4295	6495	SO:0001583	missense	0			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.1058G>A	11.37:g.118984980G>A	ENSP00000433600:p.Arg353His		Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	superfamily_C2_dom	p.R606H	ENST00000528586.1	37	c.1817		11	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948743	0.73787	2.27E-4	0.0	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.51817	0.69;0.69	5.41	4.5	0.54988	.	0.126194	0.56097	D	0.000032	T	0.48390	0.1497	N	0.22421	0.69	0.35245	D	0.778163	D;D	0.89917	1.0;1.0	D;D	0.62955	0.909;0.909	T	0.58685	-0.7593	10	0.41790	T	0.15	-11.8552	9.6045	0.39626	0.1568:0.0:0.8432:0.0	.	605;606	O14523;O14523-2	C2C2L_HUMAN;.	H	606;353	ENSP00000338885:R606H;ENSP00000433600:R353H	ENSP00000338885:R606H	R	+	2	0	C2CD2L	118490190	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	5.402000	0.66332	1.509000	0.48786	0.655000	0.94253	CGT	C2CD2L	-	NULL	ENSG00000172375		0.577	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000388199.2	-	0	47	0	G	NM_014807		118984980	1	tier1	-	no_errors	ENST00000336702	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.992	A	A	118984980	G	A	118984980	3	1	153	1	0	0	0	0	1	0	0	0	2160	1145	40	1	1867	1	C2CD2L	11	118984980	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	56794426	118984980	16021536	133	39101											
SIAE	54414	genome.wustl.edu	37	chr11	124539377	124539377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctccttctgcagcacCatatcattattgatgtatga	10	13	8	10	0	2	2	1	2	1	0	3	2	3	2	2	1	2	5	2	1	3	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr11:124539377C>A	ENST00000263593.3	-	2	280	c.108G>T	c.(106-108)atG>atT	p.M36I	SIAE_ENST00000545756.1_Start_Codon_SNP_p.M1I|SIAE_ENST00000525730.1_5'UTR			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	36					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	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;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TCTGCAGCACCATATCATTAT	0.478											OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													108	98	102					11																	124539377		2201	4299	6500	SO:0001583	missense	0			AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.108G>T	11.37:g.124539377C>A	ENSP00000263593:p.Met36Ile	1535	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	pfam_DUF303_acetylest	p.M36I	ENST00000263593.3	37	c.108	CCDS8449.1	11	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224612	0.58668	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.92699	-2.63;-3.09	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	M	0.91038	3.17	0.80722	D	1	D;P	0.69078	0.997;0.89	D;P	0.74674	0.984;0.569	D	0.97459	1.0033	10	0.87932	D	0	-8.5039	17.7773	0.88513	0.0:1.0:0.0:0.0	.	1;36	Q9HAT2-2;Q9HAT2	.;SIAE_HUMAN	I	36;1	ENSP00000263593:M36I;ENSP00000437877:M1I	ENSP00000263593:M36I	M	-	3	0	SIAE	124044587	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.742000	0.62103	2.738000	0.93877	0.655000	0.94253	ATG	SIAE	-	NULL	ENSG00000110013		0.478	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAE	HGNC	protein_coding	OTTHUMT00000387070.1	-	0	38	0	C	NM_170601		124539377	-1	tier1	-	no_errors	ENST00000263593	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	A	A	124539377	C	A	124539377	3	1	153	1	0	0	0	0	1	0	0	0	14343	594	21	3	1499	3	SIAE	11	124539377	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	5554397	124539377	10467139	134	39102											
PATE1	160065	genome.wustl.edu	37	chr11	125616207	125616207	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctctttccaaaatggacaAgtccctcttgctggaactcc	9	11	6	15	0	2	0	0	0	2	0	5	2	5	2	4	2	2	1	4	2	4	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr11:125616207A>C	ENST00000305738.5	+	1	20	c.8A>C	c.(7-9)aAg>aCg	p.K3T	PATE1_ENST00000437148.2_Missense_Mutation_p.K3T	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	3						extracellular region (GO:0005576)				large_intestine(1)|lung(5)	6						aaaatggacaagtccctcttg	0.532																																																	0													184	163	170					11																	125616207		2201	4299	6500	SO:0001583	missense	0			AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"PATE family"	24664	protein-coding gene	gene with protein product	"expressed in prostate and testis"	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.8A>C	11.37:g.125616207A>C	ENSP00000307164:p.Lys3Thr		Q3KNX2	Missense_Mutation	SNP	NULL	p.K3T	ENST00000305738.5	37	c.8	CCDS8464.1	11	.	.	.	.	.	.	.	.	.	.	A	5.151	0.213470	0.09757	.	.	ENSG00000171053	ENST00000305738;ENST00000437148	T;T	0.23950	1.88;1.88	3.94	-4.05	0.03998	.	0.609535	0.13703	N	0.368718	T	0.14313	0.0346	N	0.19112	0.55	0.09310	N	0.999995	B;P	0.35348	0.194;0.496	B;B	0.38264	0.107;0.269	T	0.18429	-1.0337	10	0.87932	D	0	-0.1923	6.7208	0.23328	0.3294:0.1671:0.5035:0.0	.	3;3	Q8WXA2-2;Q8WXA2	.;PATE1_HUMAN	T	3	ENSP00000307164:K3T;ENSP00000396056:K3T	ENSP00000307164:K3T	K	+	2	0	PATE1	125121417	0.046000	0.20272	0.006000	0.13384	0.069000	0.16628	-0.195000	0.09546	-0.908000	0.03857	-1.054000	0.02325	AAG	PATE1	-	NULL	ENSG00000171053		0.532	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PATE1	HGNC	protein_coding	OTTHUMT00000386726.2	-	0	39	0	A	NM_138294		125616207	1	tier1	-	no_errors	ENST00000305738	ensembl	human	known	74_37	missense	27.27	32	12	SNP	0.007	C	C	125616207	A	C	125616207	3	2	153	1	0	0	0	0	1	0	0	0	11512	72	3	4	10	4	PATE1	11	125616207	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	1076830	125616207	9390309	135	39103											
SLC6A12	6539	genome.wustl.edu	37	chr12	311938	311938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agttgttgcaggtcgtccagGgcagctcagaagtgaaggag	10	8	16	7	1	1	2	1	1	0	1	3	3	2	3	1	3	2	5	1	3	2	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr12:311938G>A	ENST00000428720.1	-	5	1201	c.458C>T	c.(457-459)cCc>cTc	p.P153L	RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000359674.4_Missense_Mutation_p.P153L|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Missense_Mutation_p.P153L|SLC6A12_ENST00000536824.1_Missense_Mutation_p.P153L|SLC6A12_ENST00000424061.2_Missense_Mutation_p.P153L	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	153					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)			GGTCGTCCAGGGCAGCTCAGA	0.517																																																	0													112	99	103					12																	311938		2203	4300	6503	SO:0001583	missense	0			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.458C>T	12.37:g.311938G>A	ENSP00000388184:p.Pro153Leu		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.P153L	ENST00000428720.1	37	c.458	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.371068	0.95923	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95968	0.8967	10	0.72032	D	0.01	.	19.3444	0.94357	0.0:0.0:1.0:0.0	.	153	P48065	S6A12_HUMAN	L	153	ENSP00000352702:P153L;ENSP00000380464:P153L;ENSP00000388184:P153L;ENSP00000399136:P153L;ENSP00000444268:P153L	ENSP00000352702:P153L	P	-	2	0	SLC6A12	182199	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.860000	0.99555	2.564000	0.86499	0.563000	0.77884	CCC	SLC6A12	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000111181		0.517	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2	-	0	63	0	G	NM_003044		311938	-1	tier1	-	no_errors	ENST00000359674	ensembl	human	known	74_37	missense	25.42	44	15	SNP	1.000	A	A	311938	G	A	311938	3	1	153	1	0	0	0	0	1	0	0	0	14720	1232	43	3	1434	3	SLC6A12	12	311938	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09		311938	133539957	136	39104											
PRB2	653247	genome.wustl.edu	37	chr12	11546376	11546376	+	Silent	SNP	A	A	G	1	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	cctggaggtgggggaccttgAggtttgttgcctccttgtgg	3	13	17	8	0	0	1	0	1	0	0	1	3	1	3	4	6	1	2	4	6	0	4	rs557500313	byFrequency	TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr12:11546376A>G	ENST00000389362.4	-	3	671	c.636T>C	c.(634-636)ccT>ccC	p.P212P	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)			GGGGACCTTGAGGTTTGTTGC	0.607													g|||	2	0.000399361	0	0.0029	5008	,	,		18707	0		0	False		,,,				2504	0																0													70	91	84					12																	11546376		2055	4138	6193	SO:0001819	synonymous_variant	0			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.636T>C	12.37:g.11546376A>G			O00599|P02811|P04281	Silent	SNP	NULL	p.P212	ENST00000389362.4	37	c.636	CCDS41757.2	12																																																																																			PRB2	-	NULL	ENSG00000121335		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	-	0	104	0	A	NM_006248		11546376	-1	tier1	-	no_errors	ENST00000389362	ensembl	human	known	74_37	silent	19.47	90	22	SNP	0.021	G	G	11546376	A	G	11546376	2	3	153	1	0	0	0	0	0	0	0	1	12485	291	11	4		4	PRB2	12	11546376	Silent	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	11234438	11546376	122305519	137	39105											
ETNK1	55500	genome.wustl.edu	37	chr12	22824229	22824229	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtacagttcattgattatGaatattctggatacaactac	14	15	6	6	0	2	2	1	2	1	0	2	3	2	3	0	1	4	2	0	1	7	8			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr12:22824229G>T	ENST00000266517.4	+	5	1080	c.991G>T	c.(991-993)Gaa>Taa	p.E331*		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	331					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						CATTGATTATGAATATTCTGG	0.294																																					Esophageal Squamous(42;87 913 3224 6226 43339)												0													157	171	166					12																	22824229		2203	4299	6502	SO:0001587	stop_gained	0			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.991G>T	12.37:g.22824229G>T	ENSP00000266517:p.Glu331*		G5E969	Nonsense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.E331*	ENST00000266517.4	37	c.991	CCDS8698.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.584499|6.584499	0.97684|0.97684	.|.	.|.	ENSG00000139163|ENSG00000139163	ENST00000266517;ENST00000381409|ENST00000538218	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.147689|.	0.49305|.	D|.	0.000154|.	.|T	.|0.73345	.|0.3575	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72469	.|-0.4284	.|4	0.87932|.	D|.	0|.	-3.2158|-3.2158	17.031|17.031	0.86461|0.86461	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	331|321	.|.	ENSP00000266517:E331X|.	E|M	+|+	1|3	0|0	ETNK1|ETNK1	22715496|22715496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.721000|8.721000	0.91446|0.91446	2.463000|2.463000	0.83235|0.83235	0.454000|0.454000	0.30748|0.30748	GAA|ATG	ETNK1	-	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	ENSG00000139163		0.294	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK1	HGNC	protein_coding	OTTHUMT00000401926.2		0	31	0	G	NM_018638		22824229	1			no_errors	ENST00000266517	ensembl	human	known	74_37	nonsense	7.41	25	2	SNP	1.000	T	T	22824229	G	T	22824229	4	4	153	1	0	0	0	0	0	1	0	0	5289	1291	45	3	1107	3	ETNK1	12	22824229	Nonsense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	11277853	22824229	111027666	138	39106											
KRT85	3891	genome.wustl.edu	37	chr12	52755284	52755284	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccacaccttcacacagccTatggagaaagaaaactctgt	14	7	7	13	0	2	2	1	0	1	2	2	3	2	2	3	1	2	0	3	1	4	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr12:52755284T>G	ENST00000257901.3	-	8	1374		c.e8-2		KRT85_ENST00000544265.1_Splice_Site	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85						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)		TCACACAGCCTATGGAGAAAG	0.453																																																	0													163	152	156					12																	52755284		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1299-2A>C	12.37:g.52755284T>G			Q9NSB1	Splice_Site	SNP	-	e8-2	ENST00000257901.3	37	c.1299-2	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	T	16.22	3.061998	0.55432	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7727	0.57429	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT85	51041551	1.000000	0.71417	0.894000	0.35097	0.773000	0.43773	4.802000	0.62539	1.915000	0.55452	0.459000	0.35465	.	KRT85	-	-	ENSG00000135443		0.453	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	-	0	47	0	T	NM_002283	Intron	52755284	-1	tier1	-	no_errors	ENST00000257901	ensembl	human	known	74_37	splice_site	23.08	30	9	SNP	0.970	G	G	52755284	T	G	52755284	5	3	153	1	0	0	0	0	0	0	1	0	8526	1536	53	4	234	4	KRT85	12	52755284	Splice_Site	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	29931055	52755284	81096611	139	39107											
TMCC3	57458	genome.wustl.edu	37	chr12	94972297	94972297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcagctggtcctccagtCgctcatacctttaaaagaga	11	10	8	12	1	1	1	1	0	0	1	4	2	3	1	3	1	3	3	3	1	3	3	rs369750943		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr12:94972297C>A	ENST00000261226.4	-	3	1135	c.1004G>T	c.(1003-1005)cGa>cTa	p.R335L	TMCC3_ENST00000551457.1_Missense_Mutation_p.R304L	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	335						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GTCCTCCAGTCGCTCATACCT	0.532																																																	0													65	52	56					12																	94972297		2203	4300	6503	SO:0001583	missense	0			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1004G>T	12.37:g.94972297C>A	ENSP00000261226:p.Arg335Leu		Q8IWB2	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2	p.R335L	ENST00000261226.4	37	c.1004	CCDS31877.1	12	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576549	0.86645	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.47869	0.83;0.83	5.79	5.79	0.91817	.	0.050054	0.85682	D	0.000000	T	0.68988	0.3061	M	0.73372	2.23	0.53688	D	0.99997	D	0.76494	0.999	D	0.71656	0.974	T	0.65772	-0.6087	10	0.40728	T	0.16	-17.718	20.0407	0.97588	0.0:1.0:0.0:0.0	.	335	Q9ULS5	TMCC3_HUMAN	L	335;304	ENSP00000261226:R335L;ENSP00000449888:R304L	ENSP00000261226:R335L	R	-	2	0	TMCC3	93496428	0.993000	0.37304	0.996000	0.52242	0.945000	0.59286	2.702000	0.47102	2.746000	0.94184	0.561000	0.74099	CGA	TMCC3	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000057704		0.532	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC3	HGNC	protein_coding	OTTHUMT00000408113.1	-	0	30	0	C	NM_020698		94972297	-1	tier1	-	no_errors	ENST00000261226	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	A	A	94972297	C	A	94972297	3	1	153	1	0	0	0	0	1	0	0	0	16041	884	31	2	437	2	TMCC3	12	94972297	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	42217013	94972297	38879598	140	39108											
CCDC53	51019	genome.wustl.edu	37	chr12	102406899	102406899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaagcttaatcactaaaaGaagattcgctatctgaactt	16	13	5	7	1	2	3	1	1	1	2	3	3	2	3	0	0	2	2	0	0	7	6	rs1801519		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr12:102406899G>T	ENST00000240079.6	-	7	733	c.572C>A	c.(571-573)tCt>tAt	p.S191Y	CCDC53_ENST00000545679.1_Missense_Mutation_p.S190Y	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	191						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						ATCACTAAAAGAAGATTCGCT	0.348																																																	0													65	58	60					12																	102406899		1837	4058	5895	SO:0001583	missense	0			AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.572C>A	12.37:g.102406899G>T	ENSP00000240079:p.Ser191Tyr		B2RC74|Q53FF0|Q6IAI4|Q96QK0	Missense_Mutation	SNP	pfam_WASH_CCDC53	p.S191Y	ENST00000240079.6	37	c.572	CCDS44959.1	12	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945362	0.53079	.	.	ENSG00000120860	ENST00000240079;ENST00000545679;ENST00000542923	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.79805	2.47	0.58432	D	0.999999	D;D	0.69078	0.997;0.995	D;D	0.80764	0.994;0.986	T	0.81400	-0.0950	9	0.66056	D	0.02	-18.8273	16.1398	0.81515	0.0:0.0:1.0:0.0	.	190;191	F5GZ97;Q9Y3C0	.;CCD53_HUMAN	Y	191;190;104	.	ENSP00000240079:S191Y	S	-	2	0	CCDC53	100931030	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.991000	0.63883	2.880000	0.98712	0.650000	0.86243	TCT	CCDC53	-	NULL	ENSG00000120860		0.348	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC53	HGNC	protein_coding	OTTHUMT00000398685.1		0	31	0	G	NM_016053		102406899	-1			no_errors	ENST00000240079	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	102406899	G	T	102406899	3	4	153	1	0	0	0	0	1	0	0	0	2830	942	33	3	16	3	CCDC53	12	102406899	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	7434602	102406899	31444996	141	39109											
TAOK3	51347	genome.wustl.edu	37	chr12	118681288	118681288	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatgcttcaattgtcgtaAaaatttaacttccttaagaa	15	14	6	6	1	1	1	1	0	0	1	3	2	2	2	1	1	2	2	1	1	7	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr12:118681288A>C	ENST00000392533.3	-	5	716	c.226T>G	c.(226-228)Tta>Gta	p.L76V	TAOK3_ENST00000419821.2_Missense_Mutation_p.L76V	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	76	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)					AATTGTCGTAAAAATTTAACT	0.303																																																	0													62	60	61					12																	118681288		2202	4296	6498	SO:0001583	missense	0			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.226T>G	12.37:g.118681288A>C	ENSP00000376317:p.Leu76Val		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L76V	ENST00000392533.3	37	c.226	CCDS9188.1	12	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658600	0.67586	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.05	3.92	0.45320	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	0.000007	T	0.49508	0.1561	L	0.58969	1.84	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.49707	-0.8911	10	0.87932	D	0	.	5.2648	0.15593	0.647:0.0:0.353:0.0	.	76	Q9H2K8	TAOK3_HUMAN	V	76	ENSP00000416374:L76V;ENSP00000376317:L76V;ENSP00000443465:L76V;ENSP00000438820:L76V	ENSP00000376317:L76V	L	-	1	2	TAOK3	117165671	0.999000	0.42202	0.998000	0.56505	0.977000	0.68977	0.816000	0.27267	0.959000	0.37980	0.533000	0.62120	TTA	TAOK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135090		0.303	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	-	0	102	0	A	NM_016281		118681288	-1	tier1	-	no_errors	ENST00000392533	ensembl	human	known	74_37	missense	18.95	77	18	SNP	1.000	C	C	118681288	A	C	118681288	3	2	153	1	0	0	0	0	1	0	0	0	15596	11	1	4	2538	4	TAOK3	12	118681288	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	16274389	118681288	15170607	142	39110											
CIT	11113	genome.wustl.edu	37	chr12	120139670	120139670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaccctcgagcgtgtactGcttcatgtcgatttcgtaga	7	13	9	12	4	1	1	1	0	0	1	4	3	1	1	2	0	4	3	2	0	3	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr12:120139670G>T	ENST00000261833.7	-	41	5324	c.5272C>A	c.(5272-5274)Cag>Aag	p.Q1758K	CIT_ENST00000392521.2_Missense_Mutation_p.Q1800K|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1758	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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)		AGCGTGTACTGCTTCATGTCG	0.537																																																	0													227	218	221					12																	120139670		2203	4300	6503	SO:0001583	missense	0			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.5272C>A	12.37:g.120139670G>T	ENSP00000261833:p.Gln1758Lys		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.Q1758K	ENST00000261833.7	37	c.5272	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.108449|5.108449	0.94292|0.94292	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.04234|.	3.67;3.67|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Citron-like (3);|.	0.064498|.	0.64402|.	D|.	0.000006|.	T|T	0.68732|0.68732	0.3033|0.3033	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	D;D;P|.	0.69078|.	0.997;0.963;0.672|.	D;D;B|.	0.76071|.	0.987;0.973;0.277|.	T|T	0.63350|0.63350	-0.6657|-0.6657	10|5	0.62326|.	D|.	0.03|.	.|.	19.7849|19.7849	0.96432|0.96432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1800;1758;1276|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	K|R	1800;1758|1370	ENSP00000376306:Q1800K;ENSP00000261833:Q1758K|.	ENSP00000261833:Q1758K|.	Q|S	-|-	1|3	0|2	CIT|CIT	118624053|118624053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	9.869000|9.869000	0.99810|0.99810	2.671000|2.671000	0.90904|0.90904	0.650000|0.650000	0.86243|0.86243	CAG|AGC	CIT	-	pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.537	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	-	0	50	0	G	NM_007174		120139670	-1	tier1	-	no_errors	ENST00000261833	ensembl	human	known	74_37	missense	7.84	46	4	SNP	1.000	T	T	120139670	G	T	120139670	3	4	153	1	0	0	0	0	1	0	0	0	3445	1328	46	3	839	3	CIT	12	120139670	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	1458382	120139670	13712225	143	39111											
TMEM132D	121256	genome.wustl.edu	37	chr12	129566504	129566504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgtcaggacccgcaccatggCgtgctggtactgcagggtgc	6	7	15	13	3	1	0	1	0	0	0	1	1	1	1	2	4	4	4	2	4	1	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr12:129566504C>T	ENST00000422113.2	-	7	2049	c.1723G>A	c.(1723-1725)Gcc>Acc	p.A575T	TMEM132D_ENST00000389441.4_Missense_Mutation_p.A113T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	575					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGCACCATGGCGTGCTGGTAC	0.657																																																	0													47	49	48					12																	129566504		2203	4300	6503	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1723G>A	12.37:g.129566504C>T	ENSP00000408581:p.Ala575Thr		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.A575T	ENST00000422113.2	37	c.1723	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698878	0.88830	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.19394	2.15;2.15	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000003	T	0.48447	0.1500	M	0.83312	2.635	0.80722	D	1	D;D	0.76494	0.999;0.988	D;P	0.63381	0.914;0.704	T	0.55405	-0.8146	9	.	.	.	-45.5966	17.6741	0.88225	0.0:1.0:0.0:0.0	.	575;113	Q14C87;Q14C87-2	T132D_HUMAN;.	T	113;575	ENSP00000374092:A113T;ENSP00000408581:A575T	.	A	-	1	0	TMEM132D	128132457	1.000000	0.71417	0.923000	0.36655	0.938000	0.57974	4.763000	0.62257	2.149000	0.67028	0.561000	0.74099	GCC	TMEM132D	-	NULL	ENSG00000151952		0.657	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	-	0	58	0	C	NM_133448		129566504	-1	tier1	-	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.999	T	T	129566504	C	T	129566504	3	4	153	1	0	0	0	0	1	0	0	0	16094	768	27	1	1588	1	TMEM132D	12	129566504	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	9426834	129566504	4285391	144	39112											
LATS2	26524	genome.wustl.edu	37	chr13	21555733	21555733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccccacaccgacagttaGacacatcatcccagaggtcg	11	7	8	15	2	1	2	1	0	0	2	4	3	3	2	4	1	0	1	4	1	1	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr13:21555733G>A	ENST00000382592.4	-	6	2942	c.2537C>T	c.(2536-2538)tCt>tTt	p.S846F	LATS2_ENST00000542899.1_Missense_Mutation_p.S846F	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)		CCGACAGTTAGACACATCATC	0.542																																																	0													62	56	58					13																	21555733		2203	4300	6503	SO:0001583	missense	0			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.2537C>T	13.37:g.21555733G>A	ENSP00000372035:p.Ser846Phe			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.S846F	ENST00000382592.4	37	c.2537	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002114	0.54254	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.60797	0.16;0.16	5.69	5.69	0.88448	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.084640	0.51477	D	0.000096	T	0.55561	0.1928	L	0.45137	1.4	0.80722	D	1	B	0.33345	0.409	B	0.34489	0.184	T	0.57613	-0.7781	10	0.66056	D	0.02	.	19.8632	0.96793	0.0:0.0:1.0:0.0	.	846	Q9NRM7	LATS2_HUMAN	F	846	ENSP00000372035:S846F;ENSP00000441817:S846F	ENSP00000372035:S846F	S	-	2	0	LATS2	20453733	1.000000	0.71417	0.167000	0.22817	0.644000	0.38419	7.817000	0.86213	2.713000	0.92767	0.644000	0.83932	TCT	LATS2	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000150457		0.542	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	-	0	32	0	G			21555733	-1	tier1	-	no_errors	ENST00000382592	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.998	A	A	21555733	G	A	21555733	3	1	153	1	0	0	0	0	1	0	0	0	8675	942	33	3	741	3	LATS2	13	21555733	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09		21555733	93614145	145	39113											
SACS	26278	genome.wustl.edu	37	chr13	23910865	23910865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccacggtttcaaaaagttCgcggaaattatttttatact	13	14	6	8	3	1	0	1	0	0	0	2	1	1	1	1	2	1	2	1	2	6	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr13:23910865C>T	ENST00000382292.3	-	9	7423	c.7150G>A	c.(7150-7152)Gaa>Aaa	p.E2384K	SACS_ENST00000402364.1_Missense_Mutation_p.E1634K|SACS_ENST00000382298.3_Missense_Mutation_p.E2384K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2384					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)		TCAAAAAGTTCGCGGAAATTA	0.358																																																	0													34	36	35					13																	23910865		2203	4299	6502	SO:0001583	missense	0			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.7150G>A	13.37:g.23910865C>T	ENSP00000371729:p.Glu2384Lys		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.E2384K	ENST00000382292.3	37	c.7150	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586799	0.46110	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93953	-3.32;-3.32;-3.32	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.91030	0.7178	M	0.63428	1.95	0.51012	D	0.999902	P	0.35401	0.499	B	0.29524	0.103	D	0.88923	0.3367	10	0.11794	T	0.64	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	2384	Q9NZJ4	SACS_HUMAN	K	2384;1634;2384	ENSP00000371729:E2384K;ENSP00000385844:E1634K;ENSP00000371735:E2384K	ENSP00000371729:E2384K	E	-	1	0	SACS	22808865	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	7.487000	0.81328	2.779000	0.95612	0.655000	0.94253	GAA	SACS	-	NULL	ENSG00000151835		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3		0	37	0	C	NM_014363		23910865	-1			no_errors	ENST00000382292	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T	T	23910865	C	T	23910865	3	4	153	1	0	0	0	0	1	0	0	0	13849	893	31	1	6593	1	SACS	13	23910865	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	2355132	23910865	91259013	146	39114											
C13orf23	80209	genome.wustl.edu	37	chr13	39587523	39587523	+	Silent	SNP	T	T	C	0	1	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	gagggattcccagaatgagaTggacctttgaaggccgaggg	11	7	16	7	1	0	3	0	2	0	2	1	8	1	5	3	4	0	0	3	4	2	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr13:39587523T>C	ENST00000352251.3	-	11	2699	c.1866A>G	c.(1864-1866)ccA>ccG	p.P622P	PROSER1_ENST00000350125.3_Silent_p.P600P|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	622	Ser-rich.																CAGAATGAGATGGACCTTTGA	0.488																																																	0													152	159	156					13																	39587523		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1866A>G	13.37:g.39587523T>C			A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	NULL	p.P622	ENST00000352251.3	37	c.1866	CCDS9368.2	13																																																																																			PROSER1	-	NULL	ENSG00000120685		0.488	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	-	0	65	0	T	NM_025138		39587523	-1	tier1	-	no_errors	ENST00000352251	ensembl	human	known	74_37	silent	15.79	64	12	SNP	0.506	C	C	39587523	T	C	39587523	2	2	153	1	0	0	0	0	0	0	0	1	1726	1451	51	4		4	C13orf23	13	39587523	Silent	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	15676658	39587523	75582355	147	39115											
KBTBD6	89890	genome.wustl.edu	37	chr13	41705091	41705091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagatctcctcattgaagacGcaggcttcctgaaagtcatt	11	12	8	10	1	3	4	2	2	1	2	5	4	4	4	2	1	0	2	2	1	3	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr13:41705091G>A	ENST00000379485.1	-	1	1791	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	KBTBD6_ENST00000499385.2_Silent_p.C453C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	519								p.C519C(1)		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)		CATTGAAGACGCAGGCTTCCT	0.443																																																	1	Substitution - coding silent(1)	large_intestine(1)											96	92	94					13																	41705091		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1557C>T	13.37:g.41705091G>A			Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.C519	ENST00000379485.1	37	c.1557	CCDS9376.1	13																																																																																			KBTBD6	-	NULL	ENSG00000165572		0.443	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	HGNC	protein_coding	OTTHUMT00000044657.1		0	32	0	G	NM_152903		41705091	-1			no_errors	ENST00000379485	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.993	A	A	41705091	G	A	41705091	2	1	153	1	0	0	0	0	0	0	0	1	8024	1079	38	1		1	KBTBD6	13	41705091	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	2117568	41705091	73464787	148	39116											
NUFIP1	26747	genome.wustl.edu	37	chr13	45523878	45523878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggctcactctctgaccCtgaaagactgccatagctac	9	11	7	14	0	3	3	1	2	2	1	4	3	3	3	2	1	3	2	2	1	3	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr13:45523878C>A	ENST00000379161.4	-	8	1163	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	373					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)		CTCTCTGACCCTGAAAGACTG	0.443																																																	0													238	204	216					13																	45523878		2203	4300	6503	SO:0001583	missense	0			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.1117G>T	13.37:g.45523878C>A	ENSP00000368459:p.Gly373Trp		Q8WVM5|Q96SG1	Missense_Mutation	SNP	pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G373W	ENST00000379161.4	37	c.1117	CCDS9393.1	13	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279157	0.80692	.	.	ENSG00000083635	ENST00000379161	T	0.48836	0.8	5.9	5.9	0.94986	.	0.375268	0.31772	N	0.007090	T	0.69124	0.3076	M	0.75447	2.3	0.34625	D	0.719027	D	0.89917	1.0	D	0.83275	0.996	T	0.77702	-0.2489	10	0.66056	D	0.02	.	15.8208	0.78644	0.0:1.0:0.0:0.0	.	373	Q9UHK0	NUFP1_HUMAN	W	373	ENSP00000368459:G373W	ENSP00000368459:G373W	G	-	1	0	NUFIP1	44421878	0.687000	0.27671	0.984000	0.44739	0.956000	0.61745	4.398000	0.59697	2.808000	0.96608	0.632000	0.83419	GGG	NUFIP1	-	NULL	ENSG00000083635		0.443	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP1	HGNC	protein_coding	OTTHUMT00000044755.2	-	0	85	0	C	NM_012345		45523878	-1	tier1	-	no_errors	ENST00000379161	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.991	A	A	45523878	C	A	45523878	3	1	153	1	0	0	0	0	1	0	0	0	10787	681	24	3	382	3	NUFIP1	13	45523878	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	3818787	45523878	69646000	149	39117											
LCP1	3936	genome.wustl.edu	37	chr13	46708338	46708338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgacaataatgtcatcaTtgaccttctggccaccacca	12	11	6	12	0	3	2	2	2	1	0	3	2	3	2	4	1	0	1	4	1	2	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr13:46708338T>C	ENST00000398576.2	-	17	1938	c.1550A>G	c.(1549-1551)aAt>aGt	p.N517S	LCP1_ENST00000435666.2_Missense_Mutation_p.N86S|LCP1_ENST00000323076.2_Missense_Mutation_p.N517S			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	517	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AATGTCATCATTGACCTTCTG	0.358			T	BCL6	NHL																																			Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0													133	111	119					13																	46708338		2203	4300	6503	SO:0001583	missense	0			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1550A>G	13.37:g.46708338T>C	ENSP00000381581:p.Asn517Ser		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.N517S	ENST00000398576.2	37	c.1550	CCDS9403.1	13	.	.	.	.	.	.	.	.	.	.	T	0.703	-0.790043	0.02884	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.95307	-3.67;-3.67;-3.67	5.93	5.93	0.95920	Calponin homology domain (4);	0.303036	0.39274	N	0.001418	D	0.85414	0.5691	N	0.03050	-0.425	0.38798	D	0.955134	B;B	0.02656	0.0;0.0	B;B	0.12837	0.001;0.008	T	0.82208	-0.0571	10	0.15066	T	0.55	-21.4676	15.5755	0.76380	0.0:0.0:0.0:1.0	.	86;517	B4DUA0;P13796	.;PLSL_HUMAN	S	517;517;86	ENSP00000315757:N517S;ENSP00000381581:N517S;ENSP00000405134:N86S	ENSP00000315757:N517S	N	-	2	0	LCP1	45606339	1.000000	0.71417	0.999000	0.59377	0.099000	0.18886	3.328000	0.52052	2.281000	0.76405	0.533000	0.62120	AAT	LCP1	-	superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000136167		0.358	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP1	HGNC	protein_coding	OTTHUMT00000044800.3		0	26	0	T	NM_002298		46708338	-1			no_errors	ENST00000323076	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.960	C	C	46708338	T	C	46708338	3	2	153	1	0	0	0	0	1	0	0	0	8719	1493	52	4	345	4	LCP1	13	46708338	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	1184460	46708338	68461540	150	39118											
SLITRK5	26050	genome.wustl.edu	37	chr13	88327918	88327918	+	Frame_Shift_Del	DEL	T	T	-																															cctcttgttgtccggaaaccTtttgaaccgtctctatccca																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr13:88327918delT	ENST00000325089.6	+	2	494	c.275delT	c.(274-276)cttfs	p.L93fs	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	93					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCCGGAAACCTTTTGAACCGT	0.468																																																	0													162	168	166					13																	88327918		2203	4300	6503	SO:0001589	frameshift_variant	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.275delT	13.37:g.88327918delT	ENSP00000366283:p.Leu93fs		B3KNB8|B4DSH5|Q5VT81	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L93fs	ENST00000325089.6	37	c.275	CCDS9465.1	13																																																																																			SLITRK5	-	NULL	ENSG00000165300		0.468	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3		0	23	0	T			88327918	1	tier1		no_errors	ENST00000325089	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-	-	88327918	T	-	88327918	7	5	153	1	0	1	0	1	0	0	0	0	14791	1609	56	0	277	0	SLITRK5	13	88327918	Frame_Shift_Del	DEL	T	TCGA-S8-A6BV-01A-21D-A31U-09	41619580	88327918	26841960	151	39119											
TMCO3	55002	genome.wustl.edu	37	chr13	114149957	114149957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtccttccctgggcggtgCaggctgtggagcacgaggag	5	7	17	12	3	0	0	0	0	0	0	2	3	2	2	3	5	2	3	3	5	0	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr13:114149957C>A	ENST00000434316.2	+	2	420	c.61C>A	c.(61-63)Cag>Aag	p.Q21K	TMCO3_ENST00000375391.1_Missense_Mutation_p.Q21K|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	21						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CTGGGCGGTGCAGGCTGTGGA	0.652																																																	0													78	72	74					13																	114149957		2203	4300	6503	SO:0001583	missense	0			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.61C>A	13.37:g.114149957C>A	ENSP00000389399:p.Gln21Lys		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.Q21K	ENST00000434316.2	37	c.61	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	C	4.049	0.006751	0.07866	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.28255	1.62	5.59	-5.45	0.02616	.	1.454830	0.03777	N	0.260718	T	0.10035	0.0246	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.001	T	0.28299	-1.0048	10	0.06099	T	0.92	-11.4639	4.75	0.13056	0.2314:0.2606:0.4242:0.0837	.	21;21	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	K	21	ENSP00000389399:Q21K	ENSP00000364540:Q21K	Q	+	1	0	TMCO3	113197958	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.533000	0.06157	-0.537000	0.06290	0.650000	0.86243	CAG	TMCO3	-	NULL	ENSG00000150403		0.652	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	HGNC	protein_coding	OTTHUMT00000045931.3		0	32	0	C	NM_017905		114149957	1			no_errors	ENST00000434316	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.000	A	A	114149957	C	A	114149957	3	1	153	1	0	0	0	0	1	0	0	0	16044	711	25	3	63	3	TMCO3	13	114149957	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	25822039	114149957	1019921	152	39120											
OR11H12	440153	genome.wustl.edu	37	chr14	19377837	19377837	+	Missense_Mutation	SNP	T	T	A	0	1	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	acatgttcctgggaaatttcTcctttttagagatatggtat	10	17	8	6	0	1	1	0	0	1	1	3	3	2	2	2	2	0	2	2	2	4	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr14:19377837T>A	ENST00000550708.1	+	1	316	c.244T>A	c.(244-246)Tcc>Acc	p.S82T		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	82						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)		GGGAAATTTCTCCTTTTTAGA	0.418																																																	0													43	51	48					14																	19377837		1972	4086	6058	SO:0001583	missense	0				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.244T>A	14.37:g.19377837T>A	ENSP00000449002:p.Ser82Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S82T	ENST00000550708.1	37	c.244	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	t	13.61	2.287665	0.40494	.	.	ENSG00000257115	ENST00000550708	T	0.11930	2.73	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.171384	0.27447	N	0.019339	T	0.44117	0.1278	H	0.97564	4.03	0.21604	N	0.999625	D	0.89917	1.0	D	0.75020	0.985	T	0.56469	-0.7974	9	0.87932	D	0	.	5.5303	0.16980	0.0:1.0E-4:0.0:0.9999	.	82	B2RN74	O11HC_HUMAN	T	82	ENSP00000449002:S82T	ENSP00000449002:S82T	S	+	1	0	CR383656.1	18447837	0.218000	0.23608	0.997000	0.53966	0.278000	0.26855	2.662000	0.46766	0.518000	0.28383	0.055000	0.15244	TCC	OR11H12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000257115		0.418	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1		0	61	0	T	NM_001013354		19377837	1			no_errors	ENST00000550708	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.273	A	A	19377837	T	A	19377837	3	1	153	1	0	0	0	0	1	0	0	0	10966	1551	54	5	246	5	OR11H12	14	19377837	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09		19377837	87971703	153	39121											
MYH6	4624	genome.wustl.edu	37	chr14	23865919	23865919	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaccttggtgtggccaaacTtgtactggttgtgatcaatg	8	14	11	8	0	2	1	2	1	0	0	2	1	2	1	2	3	2	2	2	3	3	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr14:23865919T>G	ENST00000356287.3	-	18	2305	c.2276A>C	c.(2275-2277)aAg>aCg	p.K759T	MYH6_ENST00000405093.3_Missense_Mutation_p.K759T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	759	Actin-binding.|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)		GTGGCCAAACTTGTACTGGTT	0.547																																																	0													123	107	112					14																	23865919		2203	4300	6503	SO:0001583	missense	0			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.2276A>C	14.37:g.23865919T>G	ENSP00000348634:p.Lys759Thr		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K759T	ENST00000356287.3	37	c.2276	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	t	17.39	3.376632	0.61735	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87729	-2.29;-2.29	4.46	4.46	0.54185	Myosin head, motor domain (2);	.	.	.	.	D	0.93141	0.7816	M	0.91090	3.175	0.51767	D	0.999938	P	0.48503	0.911	P	0.54965	0.765	D	0.94602	0.7797	9	0.87932	D	0	.	14.0449	0.64700	0.0:0.0:0.0:1.0	.	759	P13533	MYH6_HUMAN	T	759	ENSP00000386041:K759T;ENSP00000348634:K759T	ENSP00000348634:K759T	K	-	2	0	MYH6	22935759	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.638000	0.37165	1.792000	0.52537	0.528000	0.53228	AAG	MYH6	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197616		0.547	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0	41	0	T			23865919	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	24.53	40	13	SNP	1.000	G	G	23865919	T	G	23865919	3	3	153	1	0	0	0	0	1	0	0	0	10076	1609	56	4	3627	4	MYH6	14	23865919	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	4488082	23865919	83483621	154	39122											
ALDH6A1	4329	genome.wustl.edu	37	chr14	74535675	74535675	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtccggatgatcgcaaataAaatttacagctttaagaaga	16	11	8	6	2	0	3	0	1	0	2	2	4	1	4	1	1	2	2	1	1	6	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr14:74535675A>C	ENST00000553458.1	-	7	838	c.740T>G	c.(739-741)tTt>tGt	p.F247C	AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'Flank|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_5'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.F234C	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	247					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		ATCGCAAATAAAATTTACAGC	0.408																																																	0													50	49	49					14																	74535675		2203	4300	6503	SO:0001583	missense	0			M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"Aldehyde dehydrogenases"	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.740T>G	14.37:g.74535675A>C	ENSP00000450436:p.Phe247Cys		B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH	p.F247C	ENST00000553458.1	37	c.740	CCDS9826.1	14	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100052	0.76983	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	D;D	0.90844	-2.74;-2.74	5.98	3.6	0.41247	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.045029	0.85682	N	0.000000	D	0.95389	0.8503	M	0.92169	3.28	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.71184	0.972;0.972	D	0.93584	0.6915	10	0.38643	T	0.18	.	9.6114	0.39665	0.7571:0.1244:0.0:0.1184	.	234;247	B4DFS8;Q02252	.;MMSA_HUMAN	C	247;234	ENSP00000450436:F247C;ENSP00000342564:F234C	ENSP00000342564:F247C	F	-	2	0	ALDH6A1	73605428	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.262000	0.72514	0.487000	0.27698	0.528000	0.53228	TTT	ALDH6A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH	ENSG00000119711		0.408	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH6A1	HGNC	protein_coding	OTTHUMT00000412309.1	-	0	63	0	A			74535675	-1	tier1	-	no_errors	ENST00000553458	ensembl	human	known	74_37	missense	10.34	52	6	SNP	1.000	C	C	74535675	A	C	74535675	3	2	153	1	0	0	0	0	1	0	0	0	503	14	1	4	891	4	ALDH6A1	14	74535675	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	50669756	74535675	32813865	155	39123											
CCDC88C	440193	genome.wustl.edu	37	chr14	91774800	91774800	+	Silent	SNP	T	T	C	0	1	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	atggctagtgttgtttttaaTgctgattcatttctgccctc	6	19	8	8	0	2	1	1	1	1	0	3	1	2	1	1	1	2	4	1	1	2	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr14:91774800T>C	ENST00000389857.6	-	17	2987	c.2901A>G	c.(2899-2901)gcA>gcG	p.A967A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	967					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTGTTTTTAATGCTGATTCAT	0.408																																																	0													164	160	161					14																	91774800		1912	4134	6046	SO:0001819	synonymous_variant	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2901A>G	14.37:g.91774800T>C			Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.A967	ENST00000389857.6	37	c.2901	CCDS45151.1	14																																																																																			CCDC88C	-	NULL	ENSG00000015133		0.408	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	-	0	47	0	T	XM_029353		91774800	-1	tier1	-	no_errors	ENST00000389857	ensembl	human	known	74_37	silent	10.77	58	7	SNP	0.037	C	C	91774800	T	C	91774800	2	2	153	1	0	0	0	0	0	0	0	1	2872	1451	51	4		4	CCDC88C	14	91774800	Silent	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	17239125	91774800	15574740	156	39124											
DDX24	57062	genome.wustl.edu	37	chr14	94528651	94528651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggaacaggtttctccctGatcagggaagaaggcccttc	9	10	12	10	0	2	2	1	1	1	1	4	4	2	4	2	4	1	1	2	4	3	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr14:94528651G>A	ENST00000330836.5	-	3	1166	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	DDX24_ENST00000555054.1_Silent_p.I302I|DDX24_ENST00000544005.1_Silent_p.I95I	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	345	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)		GTTTCTCCCTGATCAGGGAAG	0.493																																																	0													136	130	132					14																	94528651		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1035C>T	14.37:g.94528651G>A			E7EMJ4|Q4V9L5	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.I345	ENST00000330836.5	37	c.1035	CCDS9918.1	14																																																																																			DDX24	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000089737		0.493	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX24	HGNC	protein_coding	OTTHUMT00000412861.1	-	0	64	0	G	NM_020414		94528651	-1	tier1	-	no_errors	ENST00000330836	ensembl	human	known	74_37	silent	13.75	69	11	SNP	0.002	A	A	94528651	G	A	94528651	2	1	153	1	0	0	0	0	0	0	0	1	4360	1280	45	3		3	DDX24	14	94528651	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	2753851	94528651	12820889	157	39125											
PPP2R5C	5527	genome.wustl.edu	37	chr14	102375978	102375978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcttcatggagatgaacCaaaagctatttgatgactgt	13	12	9	7	0	2	4	1	3	1	1	2	5	2	4	1	1	3	2	1	1	4	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr14:102375978C>A	ENST00000334743.5	+	11	1252	c.1204C>A	c.(1204-1206)Caa>Aaa	p.Q402K	PPP2R5C_ENST00000328724.5_Missense_Mutation_p.Q457K|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.Q433K|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.Q402K|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.Q402K	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	402					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						GGAGATGAACCAAAAGCTATT	0.418																																																	0													140	134	136					14																	102375978		2203	4300	6503	SO:0001583	missense	0			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.1204C>A	14.37:g.102375978C>A	ENSP00000333905:p.Gln402Lys		B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.Q433K	ENST00000334743.5	37	c.1297	CCDS9964.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696363|3.696363	0.68386|0.68386	.|.	.|.	ENSG00000078304|ENSG00000078304	ENST00000334756|ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000445439;ENST00000334743	.|T;T;T;T;T	.|0.45668	.|0.89;0.92;0.9;0.95;0.89	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61400|0.61400	0.2344|0.2344	M|M	0.85041|0.85041	2.73|2.73	0.80722|0.80722	D|D	1|1	B|P;D;P;B;P	0.22414|0.60575	0.069|0.863;0.988;0.888;0.28;0.869	B|B;P;B;B;P	0.18561|0.57152	0.022|0.16;0.814;0.248;0.074;0.513	T|T	0.62473|0.62473	-0.6847|-0.6847	8|10	0.87932|0.09338	D|T	0|0.73	-18.338|-18.338	18.8514|18.8514	0.92232|0.92232	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	257|433;402;402;402;457	E9PHN5|F5GWP3;Q13362-3;Q13362;Q13362-2;Q6ZN33	.|.;.;2A5G_HUMAN;.;.	Q|K	257|433;457;431;402;402;402	.|ENSP00000412324:Q433K;ENSP00000329009:Q457K;ENSP00000450931:Q431K;ENSP00000262239:Q402K;ENSP00000333905:Q402K	ENSP00000334891:P257Q|ENSP00000329009:Q457K	P|Q	+|+	2|1	0|0	PPP2R5C|PPP2R5C	101445731|101445731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.788000|7.788000	0.85771|0.85771	2.428000|2.428000	0.82296|0.82296	0.655000|0.655000	0.94253|0.94253	CCA|CAA	PPP2R5C	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000078304		0.418	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	-	0	59	0	C	NM_002719		102375978	1	tier1	-	no_errors	ENST00000422945	ensembl	human	known	74_37	missense	6.35	58	4	SNP	1.000	A	A	102375978	C	A	102375978	3	1	153	1	0	0	0	0	1	0	0	0	12436	595	21	3	1615	3	PPP2R5C	14	102375978	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	7847327	102375978	4973562	158	39126											
TDRD9	122402	genome.wustl.edu	37	chr14	104497480	104497480	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctcaagggcctcttttccaaGtcagtagaaaacatgacaga	14	9	8	10	0	3	3	2	1	1	2	4	3	4	3	2	1	1	1	2	1	5	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr14:104497480G>T	ENST00000409874.4	+	29	3366	c.3318G>T	c.(3316-3318)aaG>aaT	p.K1106N	TDRD9_ENST00000339063.5_Intron	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1106					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)				TCTTTTCCAAGTCAGTAGAAA	0.373																																																	0													115	99	104					14																	104497480		692	1591	2283	SO:0001583	missense	0			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.3318G>T	14.37:g.104497480G>T	ENSP00000387303:p.Lys1106Asn		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K1106N	ENST00000409874.4	37	c.3318	CCDS9987.2	14	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102134	0.37048	.	.	ENSG00000156414	ENST00000409874	T	0.03580	3.88	6.05	-3.49	0.04724	.	.	.	.	.	T	0.03434	0.0099	L	0.43701	1.375	0.29835	N	0.829729	B	0.06786	0.001	B	0.06405	0.002	T	0.38499	-0.9658	9	0.27082	T	0.32	.	8.6792	0.34198	0.3327:0.2033:0.4639:0.0	.	1106	Q8NDG6	TDRD9_HUMAN	N	1106	ENSP00000387303:K1106N	ENSP00000387303:K1106N	K	+	3	2	TDRD9	103567233	0.000000	0.05858	0.616000	0.29078	0.731000	0.41821	-1.462000	0.02364	-0.453000	0.07076	-0.302000	0.09304	AAG	TDRD9	-	NULL	ENSG00000156414		0.373	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD9	HGNC	protein_coding	OTTHUMT00000328325.3	-	0	44	0	G	NM_153046		104497480	1	tier1	-	no_errors	ENST00000409874	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.013	T	T	104497480	G	T	104497480	3	4	153	1	0	0	0	0	1	0	0	0	15783	1020	36	3	3432	3	TDRD9	14	104497480	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	2121502	104497480	2852060	159	39127											
FBN1	2200	genome.wustl.edu	37	chr15	48773943	48773943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttcacaggtcccacttagGcagatatttggattcaggtc	9	14	9	9	0	2	1	2	0	0	1	4	2	3	2	1	4	0	1	1	4	2	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr15:48773943G>A	ENST00000316623.5	-	32	4328	c.3873C>T	c.(3871-3873)tgC>tgT	p.C1291C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1291	EGF-like 21; 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)		TCCCACTTAGGCAGATATTTG	0.393																																																	0													138	139	139					15																	48773943		2198	4296	6494	SO:0001819	synonymous_variant	0			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.3873C>T	15.37:g.48773943G>A			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.C1291	ENST00000316623.5	37	c.3873	CCDS32232.1	15																																																																																			FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.393	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	47	0	G			48773943	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	silent	16.13	26	5	SNP	1.000	A	A	48773943	G	A	48773943	2	1	153	1	0	0	0	0	0	0	0	1	5724	1195	42	3		3	FBN1	15	48773943	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09		48773943	53757449	160	39128											
PML	5371	genome.wustl.edu	37	chr15	74335500	74335500	+	Intron	DEL	C	C	-																															agtgggttctcctggggctaCccccacccctttctaattta																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr15:74335500delC	ENST00000268058.3	+	8	1957				PML_ENST00000565898.1_Intron|PML_ENST00000569965.1_3'UTR|PML_ENST00000395135.3_Frame_Shift_Del_p.Y627fs|PML_ENST00000359928.4_3'UTR|PML_ENST00000564428.1_Frame_Shift_Del_p.Y579fs	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						CCTGGGGCTACCCCCACCCCT	0.537			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													72	70	71					15																	74335500		2198	4297	6495	SO:0001627	intron_variant	0			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.1861+20C>-	15.37:g.74335500delC			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Frame_Shift_Del	DEL	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.H629fs	ENST00000268058.3	37	c.1881	CCDS10255.1	15																																																																																			PML	-	NULL	ENSG00000140464		0.537	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3		0	29	0	C	NM_002675		74335500	1	tier1		no_errors	ENST00000395135	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	0.002	-	-	74335500	C	-	74335500	6	5	153	0	1	1	0	1	0	0	0	0	12174	518	18	0		0	PML	15	74335500	Intron	DEL	C	TCGA-S8-A6BV-01A-21D-A31U-09	25561557	74335500	28195892	161	39129											
DNAJA4	55466	genome.wustl.edu	37	chr15	78572425	78572425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacctgagatgcgtgcgcGatgaaggaatgcccatctac	10	7	14	10	3	1	2	0	2	1	1	1	6	1	4	2	2	4	0	2	2	3	1	rs535195018		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr15:78572425G>T	ENST00000394852.3	+	6	1106	c.916G>T	c.(916-918)Gat>Tat	p.D306Y	DNAJA4_ENST00000343789.3_Missense_Mutation_p.D306Y|DNAJA4_ENST00000394855.3_Missense_Mutation_p.D335Y|DNAJA4_ENST00000446172.2_Missense_Mutation_p.D279Y|RP11-762H8.4_ENST00000558192.1_RNA	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	306					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						ATGCGTGCGCGATGAAGGAAT	0.478																																																	0													105	91	95					15																	78572425		2196	4293	6489	SO:0001583	missense	0			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.916G>T	15.37:g.78572425G>T	ENSP00000378321:p.Asp306Tyr		E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.D335Y	ENST00000394852.3	37	c.1003	CCDS45316.1	15	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537287	0.27475	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.17	-0.24	0.13047	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.140562	0.64402	D	0.000007	T	0.57814	0.2079	M	0.74389	2.26	0.80722	D	1	P;P;P	0.48834	0.916;0.591;0.537	P;P;B	0.57204	0.815;0.725;0.441	T	0.57670	-0.7771	10	0.87932	D	0	-22.7133	9.0116	0.36144	0.6681:0.0:0.3319:0.0	.	279;306;335	E9PDM9;Q8WW22;Q8WW22-2	.;DNJA4_HUMAN;.	Y	335;306;306;279	ENSP00000378324:D335Y;ENSP00000339581:D306Y;ENSP00000378321:D306Y;ENSP00000413499:D279Y	ENSP00000339581:D306Y	D	+	1	0	DNAJA4	76359480	0.970000	0.33590	0.000000	0.03702	0.001000	0.01503	2.588000	0.46137	-0.310000	0.08766	-0.312000	0.09012	GAT	DNAJA4	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd	ENSG00000140403		0.478	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA4	HGNC	protein_coding	OTTHUMT00000289801.1		0	62	0	G	NM_018602		78572425	1			no_errors	ENST00000394855	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.426	T	T	78572425	G	T	78572425	3	4	153	1	0	0	0	0	1	0	0	0	4628	1058	37	2	1084	2	DNAJA4	15	78572425	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	4236925	78572425	23958967	162	39130											
PTX4	390667	genome.wustl.edu	37	chr16	1537919	1537919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttgtaggacacgttgtagTtgctggcgatgttctgcagg	6	13	15	7	3	1	0	0	0	1	0	1	2	1	1	0	3	2	8	0	3	2	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr16:1537919T>C	ENST00000447419.2	-	2	219	c.194A>G	c.(193-195)aAc>aGc	p.N65S	PTX4_ENST00000440447.2_Missense_Mutation_p.N65S|PTX4_ENST00000293922.1_Missense_Mutation_p.N60S			Q96A99	PTX4_HUMAN	pentraxin 4, long	65						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CACGTTGTAGTTGCTGGCGAT	0.637																																																	0													105	103	103					16																	1537919		2179	4269	6448	SO:0001583	missense	0				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.194A>G	16.37:g.1537919T>C	ENSP00000445277:p.Asn65Ser			Missense_Mutation	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.N65S	ENST00000447419.2	37	c.194		16	.	.	.	.	.	.	.	.	.	.	T	8.027	0.760957	0.15914	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.22539	1.97;1.95	5.41	1.77	0.24775	.	0.558331	0.17705	N	0.164783	T	0.16257	0.0391	L	0.52573	1.65	0.34065	D	0.657739	B	0.30851	0.297	B	0.31751	0.135	T	0.16247	-1.0409	10	0.33141	T	0.24	.	3.6886	0.08338	0.1601:0.178:0.0:0.6619	.	60	Q96A99-2	.	S	65;60	ENSP00000445277:N65S;ENSP00000293922:N60S	ENSP00000293922:N60S	N	-	2	0	PTX4	1477920	0.989000	0.36119	0.263000	0.24496	0.120000	0.20174	0.966000	0.29331	0.021000	0.15133	0.460000	0.39030	AAC	PTX4	-	NULL	ENSG00000251692		0.637	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	-	0	47	0	T	NM_001013658		1537919	-1	tier1	-	no_errors	ENST00000447419	ensembl	human	known	74_37	missense	41.18	20	14	SNP	0.760	C	C	1537919	T	C	1537919	3	2	153	1	0	0	0	0	1	0	0	0	12868	1725	60	4	1249	4	PTX4	16	1537919	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09		1537919	88816834	163	39131											
TBL3	10607	genome.wustl.edu	37	chr16	2024421	2024421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgacctcagccctgacaaCgaggtatgtggggcggggcc	7	8	15	11	2	1	2	1	2	0	0	1	3	1	2	3	5	2	1	3	5	2	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr16:2024421C>T	ENST00000568546.1	+	4	362	c.234C>T	c.(232-234)aaC>aaT	p.N78N		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	78					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						GCCCTGACAACGAGGTATGTG	0.627																																					Melanoma(118;616 1651 35077 38081 48633)												0													130	133	132					16																	2024421		2198	4300	6498	SO:0001819	synonymous_variant	0			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.234C>T	16.37:g.2024421C>T			Q59GD6|Q8IVB7|Q96A78	Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N78	ENST00000568546.1	37	c.234	CCDS10453.1	16																																																																																			TBL3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000183751		0.627	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	HGNC	protein_coding	OTTHUMT00000250615.3	-	0	58	0	C	NM_006453		2024421	1	tier1	-	no_errors	ENST00000568546	ensembl	human	known	74_37	silent	21.28	37	10	SNP	0.983	T	T	2024421	C	T	2024421	2	4	153	1	0	0	0	0	0	0	0	1	15690	535	19	1		1	TBL3	16	2024421	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	486502	2024421	88330332	164	39132											
NOMO1	23420	genome.wustl.edu	37	chr16	14972668	14972668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcttgacccaggacaacGgcattctgacattctcaaac	12	9	6	14	1	3	2	1	2	3	0	4	3	3	3	2	2	2	1	2	2	2	3	rs369439386		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr16:14972668G>A	ENST00000287667.7	+	23	2905	c.2734G>A	c.(2734-2736)Ggc>Agc	p.G912S		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	912						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CCAGGACAACGGCATTCTGAC	0.537																																																	0								G	SER/GLY	2,4390		0,2,2194	115	119	118		2734	3.2	1	16		118	0,8598		0,0,4299	no	missense	NOMO1	NM_014287.3	56	0,2,6493	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	912/1223	14972668	2,12988	2196	4299	6495	SO:0001583	missense	0			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2734G>A	16.37:g.14972668G>A	ENSP00000287667:p.Gly912Ser		P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom	p.G912S	ENST00000287667.7	37	c.2734	CCDS10556.1	16	.	.	.	.	.	.	.	.	.	.	.	23.8	4.464403	0.84425	4.55E-4	0.0	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.15952	2.38	3.19	3.19	0.36642	Carbohydrate-binding-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52548	-0.8561	10	0.87932	D	0	-19.0234	12.2724	0.54714	0.0:0.0:1.0:0.0	.	912	Q15155	NOMO1_HUMAN	S	912;912;745	ENSP00000287667:G912S	ENSP00000287667:G912S	G	+	1	0	NOMO1	14880169	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	9.378000	0.97191	1.785000	0.52413	0.398000	0.26397	GGC	NOMO1	-	superfamily_Carb-bd-like_fold	ENSG00000103512		0.537	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOMO1	HGNC	protein_coding	OTTHUMT00000207065.1	-	0	217	0	G			14972668	1	tier1	-	no_errors	ENST00000287667	ensembl	human	known	74_37	missense	13.94	179	29	SNP	1.000	A	A	14972668	G	A	14972668	3	1	153	1	0	0	0	0	1	0	0	0	10570	1116	39	1	2824	1	NOMO1	16	14972668	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	12948247	14972668	75382085	165	39133											
MYH11	4629	genome.wustl.edu	37	chr16	15844130	15844130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcttggtcttggaggcGctgggcagcgagctctccgt	3	11	14	13	3	3	0	0	0	3	0	4	2	3	1	2	4	2	3	2	4	0	3	rs530466304		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr16:15844130G>A	ENST00000300036.5	-	16	2032	c.1923C>T	c.(1921-1923)agC>agT	p.S641S	MYH11_ENST00000396324.3_Silent_p.S648S|MYH11_ENST00000576790.2_Silent_p.S641S|MYH11_ENST00000452625.2_Silent_p.S648S	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	641	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTTGGAGGCGCTGGGCAGCG	0.637			T	CBFB	AML								G|||	1	0.000199681	0	0	5008	,	,		18013	0		0	False		,,,				2504	0.001							Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													119	87	97					16																	15844130		2197	4300	6497	SO:0001819	synonymous_variant	0			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.1923C>T	16.37:g.15844130G>A			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.S648	ENST00000300036.5	37	c.1944	CCDS10565.1	16																																																																																			MYH11	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133392		0.637	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2		0	37	0	G	NM_001040113		15844130	-1			no_errors	ENST00000396324	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.670	A	A	15844130	G	A	15844130	2	1	153	1	0	0	0	0	0	0	0	1	10069	1078	38	1		1	MYH11	16	15844130	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	871462	15844130	74510623	166	39134											
FAM65A	79567	genome.wustl.edu	37	chr16	67579416	67579416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaccatggaggcctacGtgactgagaccgctgaggag	9	5	14	13	2	0	3	0	3	0	1	0	6	0	5	5	3	1	1	5	3	1	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr16:67579416G>A	ENST00000379312.3	+	18	3302	c.3181G>A	c.(3181-3183)Gtg>Atg	p.V1061M	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.V1076M|FAM65A_ENST00000042381.4_Missense_Mutation_p.V1057M|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.V1071M|FAM65A_ENST00000422602.2_Missense_Mutation_p.V1077M	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1061						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGAGGCCTACGTGACTGAGAC	0.627																																																	0													57	63	61					16																	67579416		2198	4300	6498	SO:0001583	missense	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3181G>A	16.37:g.67579416G>A	ENSP00000368614:p.Val1061Met		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.V1077M	ENST00000379312.3	37	c.3229	CCDS54028.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.08|16.08	3.020510|3.020510	0.54576|0.54576	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|T;T;T	.|0.77358	.|-1.09;-1.09;-1.09	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.255793	.|0.39909	.|N	.|0.001236	T|T	0.64702|0.64702	0.2622|0.2622	L|L	0.29908|0.29908	0.895|0.895	0.28594|0.28594	N|N	0.909508|0.909508	.|P;P;P	.|0.49862	.|0.929;0.929;0.929	.|B;B;B	.|0.41036	.|0.346;0.346;0.346	T|T	0.67019|0.67019	-0.5776|-0.5776	5|10	.|0.72032	.|D	.|0.01	-13.4534|-13.4534	7.1475|7.1475	0.25591|0.25591	0.2062:0.0:0.7938:0.0|0.2062:0.0:0.7938:0.0	.|.	.|1071;1077;1061	.|B4DIM2;E9PBS3;Q6ZS17	.|.;.;FA65A_HUMAN	H|M	1050|1061;1057;1077;1071	.|ENSP00000368614:V1061M;ENSP00000042381:V1057M;ENSP00000400099:V1077M	.|ENSP00000042381:V1057M	R|V	+|+	2|1	0|0	FAM65A|FAM65A	66136917|66136917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	1.553000|1.553000	0.36255|0.36255	2.589000|2.589000	0.87451|0.87451	0.655000|0.655000	0.94253|0.94253	CGT|GTG	FAM65A	-	NULL	ENSG00000039523		0.627	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3		0	24	0	G	NM_024519		67579416	1			no_errors	ENST00000422602	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	A	A	67579416	G	A	67579416	3	1	153	1	0	0	0	0	1	0	0	0	5621	1145	40	1	3235	1	FAM65A	16	67579416	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	51735286	67579416	22775337	167	39135											
NFAT5	10725	genome.wustl.edu	37	chr16	69681398	69681398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgtgaagaatctaatatgGatatatttgatgccgacagt	14	14	9	4	1	1	3	0	2	1	1	1	5	1	4	1	1	1	0	1	1	6	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr16:69681398G>T	ENST00000354436.2	+	3	985	c.667G>T	c.(667-669)Gat>Tat	p.D223Y	NFAT5_ENST00000393742.2_Missense_Mutation_p.D147Y|NFAT5_ENST00000432919.1_Missense_Mutation_p.D241Y|NFAT5_ENST00000566899.1_Missense_Mutation_p.D147Y|NFAT5_ENST00000349945.1_Missense_Mutation_p.D147Y|NFAT5_ENST00000567239.1_Missense_Mutation_p.D241Y	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	223					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						ATCTAATATGGATATATTTGA	0.443																																																	0													68	69	69					16																	69681398		2198	4300	6498	SO:0001583	missense	0			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.667G>T	16.37:g.69681398G>T	ENSP00000346420:p.Asp223Tyr		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.D241Y	ENST00000354436.2	37	c.721	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727057	0.69074	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.63417	0.14;0.2;-0.04;0.2	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	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;0.999;0.991	T	0.75348	-0.3349	10	0.87932	D	0	-2.9564	19.5215	0.95187	0.0:0.0:1.0:0.0	.	241;223;241	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	Y	241;241;147;223;147	ENSP00000396538:D241Y;ENSP00000338806:D147Y;ENSP00000346420:D223Y;ENSP00000377343:D147Y	ENSP00000338806:D147Y	D	+	1	0	NFAT5	68238899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.834000	0.99428	2.597000	0.87782	0.650000	0.86243	GAT	NFAT5	-	NULL	ENSG00000102908		0.443	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2		0	34	0	G	NM_138714		69681398	1			no_errors	ENST00000432919	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	T	T	69681398	G	T	69681398	3	4	153	1	0	0	0	0	1	0	0	0	10399	1174	41	3	735	3	NFAT5	16	69681398	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	2101982	69681398	20673355	168	39136											
TAT	6898	genome.wustl.edu	37	chr16	71602142	71602142	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccagcatcatcacctCggggactgtgatgaccactc	8	8	9	16	2	2	2	2	2	0	0	5	3	3	3	4	2	1	1	4	2	0	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr16:71602142C>A	ENST00000355962.4	-	12	1403	c.1270G>T	c.(1270-1272)Gag>Tag	p.E424*	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	424					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)	ATCATCACCTCGGGGACTGTG	0.517																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)												0													72	59	63					16																	71602142		2198	4300	6498	SO:0001587	stop_gained	0				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.1270G>T	16.37:g.71602142C>A	ENSP00000348234:p.Glu424*		B2R8I1|D3DWS2	Nonsense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.E424*	ENST00000355962.4	37	c.1270	CCDS10903.1	16	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294261	0.81025	.	.	ENSG00000198650	ENST00000355962	.	.	.	6.17	1.81	0.25067	.	0.232475	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-4.5016	14.1553	0.65413	0.0:0.7895:0.0:0.2105	.	.	.	.	X	424	.	ENSP00000348234:E424X	E	-	1	0	TAT	70159643	0.542000	0.26426	0.043000	0.18650	0.524000	0.34500	1.209000	0.32357	-0.095000	0.12351	-0.797000	0.03246	GAG	TAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	ENSG00000198650		0.517	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	HGNC	protein_coding	OTTHUMT00000268989.1	-	0	45	0	C			71602142	-1	tier1	-	no_errors	ENST00000355962	ensembl	human	known	74_37	nonsense	18.18	18	4	SNP	0.605	A	A	71602142	C	A	71602142	4	1	153	1	0	0	0	0	0	1	0	0	15637	893	31	2	98	2	TAT	16	71602142	Nonsense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	1920744	71602142	18752611	169	39137											
KIF1C	10749	genome.wustl.edu	37	chr17	4908250	4908250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaagtagcccggctgCgggaactgctgatggctcag	9	6	17	9	2	1	1	1	1	0	0	1	4	1	4	1	5	4	4	1	5	3	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr17:4908250C>T	ENST00000320785.5	+	13	1477	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	374					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGCCCGGCTGCGGGAACTGCT	0.612																																					Melanoma(96;1023 1447 10250 19259 33730)												0													109	117	115					17																	4908250		2203	4300	6503	SO:0001583	missense	0			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1120C>T	17.37:g.4908250C>T	ENSP00000320821:p.Arg374Trp		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R374W	ENST00000320785.5	37	c.1120	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450566	0.84101	.	.	ENSG00000129250	ENST00000320785	T	0.76578	-1.03	4.82	4.82	0.62117	.	.	.	.	.	D	0.85080	0.5615	M	0.84082	2.675	0.52099	D	0.999948	D	0.76494	0.999	P	0.57620	0.824	D	0.86716	0.1939	9	0.87932	D	0	.	10.8012	0.46489	0.1888:0.8112:0.0:0.0	.	374	O43896	KIF1C_HUMAN	W	374	ENSP00000320821:R374W	ENSP00000320821:R374W	R	+	1	2	KIF1C	4848974	0.995000	0.38212	0.997000	0.53966	0.970000	0.65996	3.334000	0.52097	2.671000	0.90904	0.655000	0.94253	CGG	KIF1C	-	NULL	ENSG00000129250		0.612	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	-	0	50	0	C			4908250	1	tier1	-	no_errors	ENST00000320785	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	4908250	C	T	4908250	3	4	153	1	0	0	0	0	1	0	0	0	8312	759	27	1	1162	1	KIF1C	17	4908250	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09		4908250	76286960	170	39138											
TP53	7157	genome.wustl.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	0	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	68	0	C	NM_000546		7577538	-1	tier1	rs11540652	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	41.07	33	23	SNP	1.000	T	T	7577538	C	T	7577538	3	4	153	1	0	0	0	0	1	0	0	0	16429	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	2669288	7577538	73617672	171	39139											
CHD3	1107	genome.wustl.edu	37	chr17	7807298	7807300	+	In_Frame_Del	DEL	GAA	GAA	-																															tggcacagtacgtcgtgcggGaagaagacaaggtgagaggc																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr17:7807298_7807300delGAA	ENST00000330494.7	+	24	4033_4035	c.3883_3885delGAA	c.(3883-3885)gaadel	p.E1296del	CHD3_ENST00000358181.4_In_Frame_Del_p.E1296del|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000380358.4_In_Frame_Del_p.E1355del	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1296					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)				CGTCGTGCGGGAAGAAGACAAGG	0.527																																																	0																																										SO:0001651	inframe_deletion	0			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.3883_3885delGAA	17.37:g.7807301_7807303delGAA	ENSP00000332628:p.Glu1296del		D3DTQ9|E9PG89|Q9Y4I0	In_Frame_Del	DEL	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1296in_frame_del	ENST00000330494.7	37	c.3883_3885	CCDS32554.1	17																																																																																			CHD3	-	pfam_DUF1087	ENSG00000170004		0.527	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1		0	32	0	GAA	NM_001005273		7807300	1	tier1		no_errors	ENST00000330494	ensembl	human	known	74_37	in_frame_del	7.41	25	2	DEL	1.000:1.000:1.000	-	-	7807300	GAA	-	7807298	7	5	153	1	0	1	0	1	0	0	0	0	3333	1175	41	0	4258	0	CHD3	17	7807298	In_Frame_Del	DEL	GAA	TCGA-S8-A6BV-01A-21D-A31U-09	229760	7807298	73387912	172	39140											
MYH2	4620	genome.wustl.edu	37	chr17	10427169	10427169	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggaaatatctgtctcCagcttcttcttggtgttgat	7	18	9	7	0	4	1	0	1	4	0	5	2	4	2	1	2	1	2	1	2	2	6			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr17:10427169C>A	ENST00000245503.5	-	36	5592	c.5208G>T	c.(5206-5208)ctG>ctT	p.L1736L	MYH2_ENST00000397183.2_Silent_p.L1736L|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1736					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TATCTGTCTCCAGCTTCTTCT	0.408																																																	0													148	131	136					17																	10427169		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5208G>T	17.37:g.10427169C>A			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1736	ENST00000245503.5	37	c.5208	CCDS11156.1	17																																																																																			MYH2	-	pfam_Myosin_tail	ENSG00000125414		0.408	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0	75	0	C	NM_017534		10427169	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	silent	23.91	35	11	SNP	1.000	A	A	10427169	C	A	10427169	2	1	153	1	0	0	0	0	0	0	0	1	10073	581	21	3		3	MYH2	17	10427169	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	2619871	10427169	70768041	173	39141											
CDRT1	374286	genome.wustl.edu	37	chr17	15510949	15510949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttctctcctccatcaggaCctgctgcgtttcctcgttct	4	16	6	15	2	3	0	1	0	2	0	8	1	6	1	4	1	2	3	4	1	0	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr17:15510949C>A	ENST00000395906.3	-	6	1170	c.1171G>T	c.(1171-1173)Gtc>Ttc	p.V391F	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.V701F	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	391										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TCCATCAGGACCTGCTGCGTT	0.468																																																	0													155	139	145					17																	15510949		2203	4300	6503	SO:0001583	missense	0			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1171G>T	17.37:g.15510949C>A	ENSP00000379242:p.Val391Phe		O43848|O95611	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V391F	ENST00000395906.3	37	c.1171	CCDS45619.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.74|16.74	3.207368|3.207368	0.58343|0.58343	.|.	.|.	ENSG00000251537|ENSG00000251537	ENST00000455584|ENST00000261644;ENST00000395906	.|T	.|0.21932	.|1.98	4.99|4.99	-0.852|-0.852	0.10713|0.10713	.|F-box domain, Skp2-like (1);	.|0.737822	.|0.10945	.|U	.|0.616758	T|T	0.30039|0.30039	0.0752|0.0752	M|M	0.66939|0.66939	2.045|2.045	0.46586|0.46586	D|D	0.999112|0.999112	.|P;D	.|0.54047	.|0.933;0.964	.|B;P	.|0.51101	.|0.441;0.659	T|T	0.38457|0.38457	-0.9660|-0.9660	5|10	.|0.72032	.|D	.|0.01	.|.	8.644|8.644	0.33994|0.33994	0.0:0.5366:0.0:0.4634|0.0:0.5366:0.0:0.4634	.|.	.|391;715	.|O95170;Q59EB2	.|CDRT1_HUMAN;.	S|F	715|421;391	.|ENSP00000379242:V391F	.|ENSP00000261644:V421F	R|V	-|-	3|1	2|0	RP11-385D13.1|RP11-385D13.1	15451674|15451674	0.134000|0.134000	0.22483|0.22483	0.886000|0.886000	0.34754|0.34754	0.937000|0.937000	0.57800|0.57800	0.312000|0.312000	0.19397|0.19397	-0.052000|-0.052000	0.13311|0.13311	0.561000|0.561000	0.74099|0.74099	AGG|GTC	CDRT1	-	superfamily_F-box_dom	ENSG00000241322		0.468	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CDRT1	HGNC	protein_coding	OTTHUMT00000448127.1	-	0	207	0	C	NM_006382		15510949	-1	tier1	-	no_errors	ENST00000395906	ensembl	human	known	74_37	missense	15.91	111	21	SNP	0.285	A	A	15510949	C	A	15510949	3	1	153	1	0	0	0	0	1	0	0	0	3181	507	18	3	1115	3	CDRT1	17	15510949	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	5083780	15510949	65684261	174	39142											
TP53I13	90313	genome.wustl.edu	37	chr17	27899268	27899268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccaagaggcggaggctgCgggctgcccttggtccccag	5	6	17	13	2	0	1	0	0	0	1	1	2	1	2	4	5	3	2	4	5	1	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr17:27899268C>T	ENST00000301057.7	+	6	737	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	RP11-68I3.4_ENST00000579050.1_RNA|RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	208						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GCGGAGGCTGCGGGCTGCCCT	0.662																																																	0													19	23	22					17																	27899268		2029	4166	6195	SO:0001583	missense	0			AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.622C>T	17.37:g.27899268C>T	ENSP00000301057:p.Arg208Trp		Q7L5U3	Missense_Mutation	SNP	NULL	p.R208W	ENST00000301057.7	37	c.622	CCDS42289.1	17	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632122	0.87660	.	.	ENSG00000167543	ENST00000301057	.	.	.	3.94	3.94	0.45596	.	0.080371	0.42420	D	0.000714	T	0.72203	0.3431	M	0.70595	2.14	0.37805	D	0.927853	D	0.89917	1.0	D	0.81914	0.995	T	0.77869	-0.2427	9	0.72032	D	0.01	-18.6767	11.6787	0.51444	0.0:1.0:0.0:0.0	.	208	Q8NBR0	P5I13_HUMAN	W	208	.	ENSP00000301057:R208W	R	+	1	2	TP53I13	24923394	0.951000	0.32395	0.996000	0.52242	0.361000	0.29550	3.740000	0.55082	2.199000	0.70637	0.462000	0.41574	CGG	TP53I13	-	NULL	ENSG00000167543		0.662	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53I13	HGNC	protein_coding	OTTHUMT00000447804.2	-	0	48	0	C	NM_138349		27899268	1	tier1	-	no_errors	ENST00000301057	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.994	T	T	27899268	C	T	27899268	3	4	153	1	0	0	0	0	1	0	0	0	16434	759	27	1	644	1	TP53I13	17	27899268	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	12388319	27899268	53295942	175	39143											
BCAS3	54828	genome.wustl.edu	37	chr17	59115362	59115362	+	Silent	SNP	C	C	T	0	0	0	1	1	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	actgcacccaagattagtgaCgacacaccactggaaatgat	15	7	8	11	1	0	3	0	2	0	1	0	5	0	4	2	1	1	1	2	1	3	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr17:59115362C>T	ENST00000390652.5	+	19	1951	c.1920C>T	c.(1918-1920)gaC>gaT	p.D640D	BCAS3_ENST00000588462.1_Silent_p.D640D|BCAS3_ENST00000585744.1_Silent_p.D411D|BCAS3_ENST00000589222.1_Silent_p.D625D|BCAS3_ENST00000407086.3_Silent_p.D625D|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000408905.3_Silent_p.D625D|BCAS3_ENST00000588874.1_Silent_p.D396D	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)			AGATTAGTGACGACACACCAC	0.458																																																	0													139	145	143					17																	59115362		2132	4237	6369	SO:0001819	synonymous_variant	0			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.1920C>T	17.37:g.59115362C>T				Silent	SNP	pfam_BCAS3,pfam_WD40_repeat	p.D640	ENST00000390652.5	37	c.1920	CCDS45749.1	17																																																																																			BCAS3	-	pfam_BCAS3	ENSG00000141376		0.458	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	HGNC	protein_coding	OTTHUMT00000449578.1	-	0	55	0	C	NM_017679		59115362	1	tier1	-	no_errors	ENST00000390652	ensembl	human	known	74_37	silent	15.00	50	9	SNP	1.000	T	T	59115362	C	T	59115362	2	4	153	1	0	0	0	0	0	0	0	1	1353	535	19	1		1	BCAS3	17	59115362	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	31216094	59115362	22079848	176	39144											
ZNF750	79755	genome.wustl.edu	37	chr17	80789208	80789208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aattggactttcgaactcgaCgtgttttctgttggggtccg	6	15	12	8	4	1	0	0	0	1	0	4	3	2	1	1	3	1	2	1	3	2	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr17:80789208C>T	ENST00000269394.3	-	2	1956	c.1123G>A	c.(1123-1125)Gtc>Atc	p.V375I	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	375					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCGAACTCGACGTGTTTTCTG	0.567																																																	0													95	102	100					17																	80789208		2203	4300	6503	SO:0001583	missense	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1123G>A	17.37:g.80789208C>T	ENSP00000269394:p.Val375Ile		Q9H899	Missense_Mutation	SNP	NULL	p.V375I	ENST00000269394.3	37	c.1123	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	C	1.347	-0.592409	0.03799	.	.	ENSG00000141579	ENST00000269394	T	0.13778	2.56	4.62	-0.538	0.11868	.	0.576484	0.16236	N	0.223377	T	0.03178	0.0093	N	0.01352	-0.895	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.43228	-0.9404	9	.	.	.	-2.454	4.2917	0.10881	0.0:0.3169:0.3548:0.3282	.	375	Q32MQ0	ZN750_HUMAN	I	375	ENSP00000269394:V375I	.	V	-	1	0	ZNF750	78382497	0.001000	0.12720	0.001000	0.08648	0.192000	0.23643	-0.109000	0.10840	-0.074000	0.12820	-0.339000	0.08088	GTC	ZNF750	-	NULL	ENSG00000141579		0.567	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	0	44	0	C	NM_024702		80789208	-1	tier1	-	no_errors	ENST00000269394	ensembl	human	known	74_37	missense	18.42	31	7	SNP	0.000	T	T	80789208	C	T	80789208	3	4	153	1	0	0	0	0	1	0	0	0	18180	536	19	1	1056	1	ZNF750	17	80789208	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	21673846	80789208	406002	177	39145											
NDUFV2	4729	genome.wustl.edu	37	chr18	9122614	9122614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtatcacattcaggtctGcactactacaccctgcatgc	12	10	6	13	0	3	0	2	0	1	0	3	0	3	0	1	1	5	3	1	1	4	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr18:9122614G>T	ENST00000318388.6	+	5	518	c.404G>T	c.(403-405)tGc>tTc	p.C135F	NDUFV2_ENST00000400033.1_Missense_Mutation_p.C138F|RP11-143J12.2_ENST00000583081.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000582375.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	135					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						ATTCAGGTCTGCACTACTACA	0.383																																																	0													122	108	113					18																	9122614		2203	4300	6503	SO:0001583	missense	0			X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7717	protein-coding gene	gene with protein product	"complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"	600532	"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.404G>T	18.37:g.9122614G>T	ENSP00000327268:p.Cys135Phe		Q9BV41	Missense_Mutation	SNP	pfam_NuoE_like,superfamily_Thioredoxin-like_fold,tigrfam_NuoE_like	p.C135F	ENST00000318388.6	37	c.404	CCDS11842.1	18	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929720	0.92389	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.78246	-1.12;-1.16	5.93	5.93	0.95920	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.94611	0.8263	H	0.99783	4.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96704	0.9520	10	0.87932	D	0	-8.0618	20.3397	0.98756	0.0:0.0:1.0:0.0	.	135	P19404	NDUV2_HUMAN	F	135;138	ENSP00000327268:C135F;ENSP00000382908:C138F	ENSP00000327268:C135F	C	+	2	0	NDUFV2	9112614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.623000	0.98386	2.803000	0.96430	0.585000	0.79938	TGC	NDUFV2	-	pfam_NuoE_like,superfamily_Thioredoxin-like_fold,tigrfam_NuoE_like	ENSG00000178127		0.383	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFV2	HGNC	protein_coding	OTTHUMT00000254475.2		0	81	0	G	NM_021074		9122614	1			no_errors	ENST00000318388	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	9122614	G	T	9122614	3	4	153	1	0	0	0	0	1	0	0	0	10339	1319	46	3	422	3	NDUFV2	18	9122614	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09		9122614	68954634	178	39146											
ZNF521	25925	genome.wustl.edu	37	chr18	22805855	22805855	+	Missense_Mutation	SNP	T	T	A	0	1	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	catgcttcagcaaggattctTggttggggaattccttgttg	7	15	12	7	0	2	0	1	0	1	0	3	2	3	2	1	4	2	4	1	4	2	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr18:22805855T>A	ENST00000361524.3	-	4	2175	c.2027A>T	c.(2026-2028)cAa>cTa	p.Q676L	ZNF521_ENST00000584787.1_Missense_Mutation_p.Q456L|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q676L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	676					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)					CAAGGATTCTTGGTTGGGGAA	0.423			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													173	161	165					18																	22805855		2203	4300	6503	SO:0001583	missense	0			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.2027A>T	18.37:g.22805855T>A	ENSP00000354794:p.Gln676Leu		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q676L	ENST00000361524.3	37	c.2027	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	T	10.74	1.436438	0.25813	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T;T	0.77489	0.67;-1.1;0.67	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	L	0.28694	0.88	0.54753	D	0.999984	D	0.71674	0.998	D	0.75484	0.986	T	0.78117	-0.2329	10	0.22706	T	0.39	-26.1159	16.5764	0.84681	0.0:0.0:0.0:1.0	.	676	Q96K83	ZN521_HUMAN	L	676;710;676	ENSP00000354794:Q676L;ENSP00000440768:Q710L;ENSP00000382352:Q676L	ENSP00000354794:Q676L	Q	-	2	0	ZNF521	21059853	1.000000	0.71417	0.958000	0.39756	0.995000	0.86356	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	CAA	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.423	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	13	0	T	NM_015461		22805855	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.999	A	A	22805855	T	A	22805855	3	1	153	1	0	0	0	0	1	0	0	0	18013	1812	63	5	1928	5	ZNF521	18	22805855	Missense_Mutation	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	13683241	22805855	55271393	179	39147											
ONECUT2	9480	genome.wustl.edu	37	chr18	55143876	55143876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcatgaacgcccggcGccgcagcctggagaagtggc	7	7	13	14	4	2	2	1	1	1	1	2	3	2	2	3	3	2	1	3	3	2	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr18:55143876G>A	ENST00000491143.2	+	2	1468	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	479					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)		AACGCCCGGCGCCGCAGCCTG	0.582																																																	0													39	45	43					18																	55143876		2076	4236	6312	SO:0001583	missense	0			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.1436G>A	18.37:g.55143876G>A	ENSP00000419185:p.Arg479His			Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R479H	ENST00000491143.2	37	c.1436	CCDS42440.1	18	.	.	.	.	.	.	.	.	.	.	G	33	5.223394	0.95139	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	6.02	6.02	0.97574	Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.87370	0.6160	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.89423	0.3711	9	0.87932	D	0	-21.0285	20.1323	0.98003	0.0:0.0:1.0:0.0	.	479	O95948	ONEC2_HUMAN	H	460;479	.	ENSP00000262095:R479H	R	+	2	0	ONECUT2	53294874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	CGC	ONECUT2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000119547		0.582	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT2	HGNC	protein_coding	OTTHUMT00000357264.3	-	0	40	0	G			55143876	1	tier1	-	no_errors	ENST00000491143	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	A	A	55143876	G	A	55143876	3	1	153	1	0	0	0	0	1	0	0	0	10908	1087	38	1	1442	1	ONECUT2	18	55143876	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	32338021	55143876	22933372	180	39148											
HMHA1	23526	genome.wustl.edu	37	chr19	1073196	1073196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ccacgagtgcctgggtgaggCtctgcgtgtcatgcatcaga	7	9	14	11	2	3	2	2	1	1	1	3	3	3	2	2	2	3	2	2	2	0	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:1073196C>G	ENST00000313093.2	+	3	701	c.470C>G	c.(469-471)gCt>gGt	p.A157G	HMHA1_ENST00000539243.2_Missense_Mutation_p.A173G|HMHA1_ENST00000543365.1_Missense_Mutation_p.A40G|HMHA1_ENST00000592335.1_Missense_Mutation_p.L38V|HMHA1_ENST00000586866.1_Missense_Mutation_p.A161G|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000590214.1_Missense_Mutation_p.A184G	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	157					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)		CTGGGTGAGGCTCTGCGTGTC	0.647																																																	0													59	59	59					19																	1073196		2203	4300	6503	SO:0001583	missense	0			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.470C>G	19.37:g.1073196C>G	ENSP00000316772:p.Ala157Gly		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.A157G	ENST00000313093.2	37	c.470	CCDS32863.1	19	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281733	0.23392	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000412039;ENST00000543365	T;T;T	0.22539	2.01;2.03;1.95	4.16	1.5	0.22942	.	0.292492	0.31601	N	0.007361	T	0.21186	0.0510	L	0.47716	1.5	0.80722	D	1	B;P;B	0.46142	0.01;0.873;0.007	B;P;B	0.44811	0.006;0.461;0.003	T	0.04495	-1.0947	10	0.87932	D	0	-10.1789	10.278	0.43521	0.0:0.7879:0.0:0.2121	.	173;40;157	F6QP70;F5H1R4;Q92619	.;.;HMHA1_HUMAN	G	173;157;157;151;40	ENSP00000439601:A173G;ENSP00000316772:A157G;ENSP00000438979:A40G	ENSP00000316772:A157G	A	+	2	0	HMHA1	1024196	0.992000	0.36948	0.911000	0.35937	0.080000	0.17528	2.623000	0.46435	0.721000	0.32231	0.491000	0.48974	GCT	HMHA1	-	NULL	ENSG00000180448		0.647	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	-	0	39	0	C			1073196	1	tier1	-	no_errors	ENST00000313093	ensembl	human	known	74_37	missense	21.05	30	8	SNP	0.994	G	G	1073196	C	G	1073196	3	3	153	1	0	0	0	0	1	0	0	0	7267	797	28	5	480	5	HMHA1	19	1073196	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09		1073196	58055787	181	39149											
FAM108A1	81926	genome.wustl.edu	37	chr19	1877558	1877558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	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	tggtgtcggggaaggcgacgCgcatgcccgaggtgagcggc	6	5	20	10	6	0	1	0	1	0	0	1	4	0	2	1	6	2	1	1	6	1	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:1877558C>G	ENST00000292577.7	-	4	1089	c.656G>C	c.(655-657)cGc>cCc	p.R219P	ABHD17A_ENST00000250974.9_Missense_Mutation_p.R270P|CTB-31O20.9_ENST00000592720.1_lincRNA|ABHD17A_ENST00000590661.1_Missense_Mutation_p.A188P|CTB-31O20.2_ENST00000565797.1_lincRNA	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	219						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GAAGGCGACGCGCATGCCCGA	0.736																																																	0													12	16	15					19																	1877558		2131	4194	6325	SO:0001583	missense	0			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.656G>C	19.37:g.1877558C>G	ENSP00000292577:p.Arg219Pro		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	pfam_Dienelactn_hydro	p.R270P	ENST00000292577.7	37	c.809	CCDS45902.1	19	.	.	.	.	.	.	.	.	.	.	c	18.97	3.734867	0.69189	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.44881	0.91;0.91	4.36	3.32	0.38043	.	0.225296	0.42053	D	0.000774	T	0.66944	0.2841	M	0.89095	3.005	0.24711	N	0.993206	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.994;0.999	T	0.61352	-0.7080	10	0.87932	D	0	-19.6593	11.0093	0.47652	0.0:0.9072:0.0:0.0928	.	219;270;219	Q96GS6;Q96GS6-2;Q96GS6-3	F18A1_HUMAN;.;.	P	270;219	ENSP00000250974:R270P;ENSP00000292577:R219P	ENSP00000250974:R270P	R	-	2	0	FAM108A1	1828558	1.000000	0.71417	0.995000	0.50966	0.499000	0.33736	7.711000	0.84669	0.947000	0.37659	0.561000	0.74099	CGC	ABHD17A	-	pfam_Dienelactn_hydro	ENSG00000129968		0.736	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2		0	64	0	C	NM_031213		1877558	-1			no_errors	ENST00000250974	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	G	G	1877558	C	G	1877558	3	3	153	1	0	0	0	0	1	0	0	0	5410	768	27	5	284	5	FAM108A1	19	1877558	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	804362	1877558	57251425	182	39150											
C19orf28	126321	genome.wustl.edu	37	chr19	3547313	3547313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcttcatgaggaaggagGacaagaagccgctgaggtac	12	6	16	7	1	1	3	1	2	0	1	1	6	1	6	1	5	2	3	1	5	4	2	rs558048226	byFrequency	TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:3547313G>T	ENST00000355415.2	-	6	1149	c.980C>A	c.(979-981)tCc>tAc	p.S327Y	MFSD12_ENST00000389395.3_Missense_Mutation_p.S327Y|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.S327Y|MFSD12_ENST00000591878.1_5'Flank	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	327					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GAGGAAGGAGGACAAGAAGCC	0.632																																																	0													69	76	74					19																	3547313		2062	4190	6252	SO:0001583	missense	0			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.980C>A	19.37:g.3547313G>T	ENSP00000347583:p.Ser327Tyr		A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S327Y	ENST00000355415.2	37	c.980	CCDS42465.1	19	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452448	0.63290	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	D;D;D	0.81579	-1.51;-1.51;-1.51	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);	0.105878	0.64402	D	0.000003	D	0.89643	0.6774	M	0.80028	2.48	0.52501	D	0.999951	P;D;D	0.69078	0.939;0.996;0.997	P;D;D	0.71184	0.842;0.916;0.972	D	0.89788	0.3966	10	0.45353	T	0.12	-46.8636	17.5211	0.87787	0.0:0.0:1.0:0.0	.	327;318;327	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	Y	327	ENSP00000374046:S327Y;ENSP00000381566:S327Y;ENSP00000347583:S327Y	ENSP00000347583:S327Y	S	-	2	0	C19orf28	3498313	1.000000	0.71417	0.644000	0.29465	0.541000	0.35023	5.752000	0.68728	2.367000	0.80283	0.555000	0.69702	TCC	MFSD12	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000161091		0.632	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MFSD12	HGNC	protein_coding	OTTHUMT00000452949.2	-	0	63	0	G	NM_174983		3547313	-1	tier1	-	no_errors	ENST00000398558	ensembl	human	known	74_37	missense	12.73	48	7	SNP	1.000	T	T	3547313	G	T	3547313	3	4	153	1	0	0	0	0	1	0	0	0	1924	1174	41	3	689	3	C19orf28	19	3547313	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	1669755	3547313	55581670	183	39151											
PTPRS	5802	genome.wustl.edu	37	chr19	5238931	5238931	+	Splice_Site	DEL	G	G	-																															ggccccgcgagacacctactGgactgcagcgtgcgctgccg																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:5238931delG	ENST00000587303.1	-	12	1947	c.1848delC	c.(1846-1848)tcc>tc	p.S616fs	PTPRS_ENST00000592099.1_Splice_Site_p.S603fs|PTPRS_ENST00000348075.2_Splice_Site_p.S603fs|PTPRS_ENST00000353284.2_Splice_Site_p.S603fs|PTPRS_ENST00000357368.4_Splice_Site_p.S616fs|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Splice_Site_p.S612fs|PTPRS_ENST00000372412.4_Splice_Site_p.S617fs|PTPRS_ENST00000588012.1_Splice_Site_p.S603fs			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	616	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GACACCTACTGGACTGCAGCG	0.736																																																	0													25	27	26					19																	5238931		2200	4277	6477	SO:0001630	splice_region_variant	0			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.1849+1C>-	19.37:g.5238931delG			O75255|O75870|Q15718|Q16341|Q2M3R7	Frame_Shift_Del	DEL	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.K618fs	ENST00000587303.1	37	c.1851	CCDS45930.1	19																																																																																			PTPRS	-	superfamily_Fibronectin_type3	ENSG00000105426		0.736	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2		0	11	0	G		Frame_Shift_Del	5238931	-1	tier1		no_errors	ENST00000372412	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	1.000	-	-	5238931	G	-	5238931	8	5	153	1	0	1	0	1	0	0	1	0	12856	1362	47	0	4102	0	PTPRS	19	5238931	Splice_Site	DEL	G	TCGA-S8-A6BV-01A-21D-A31U-09	1691618	5238931	53890052	184	39152											
MUC16	94025	genome.wustl.edu	37	chr19	9090305	9090305	+	Frame_Shift_Del	DEL	C	C	-																															agtggttgccctcaggatgtCagagctcccgtgggcagctg																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:9090305delC	ENST00000397910.4	-	1	1713	c.1510delG	c.(1510-1512)gacfs	p.D504fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	504	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						CTCAGGATGTCAGAGCTCCCG	0.552																																																	0													101	98	99					19																	9090305		2090	4229	6319	SO:0001589	frameshift_variant	0			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.1510delG	19.37:g.9090305delC	ENSP00000381008:p.Asp504fs		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.D504fs	ENST00000397910.4	37	c.1510	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	66	0	C	NM_024690		9090305	-1	tier1		no_errors	ENST00000397910	ensembl	human	known	74_37	frame_shift_del	20.75	42	11	DEL	0.006	-	-	9090305	C	-	9090305	7	5	153	1	0	1	0	1	0	0	0	0	10011	826	29	0	42349	0	MUC16	19	9090305	Frame_Shift_Del	DEL	C	TCGA-S8-A6BV-01A-21D-A31U-09	3851374	9090305	50038678	185	39153											
QTRT1	81890	genome.wustl.edu	37	chr19	10823277	10823277	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcttggatgtgacatgttCgactgcgtcttccccacacg	6	12	10	13	3	2	1	0	1	2	0	4	3	3	2	2	1	1	2	2	1	0	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:10823277C>T	ENST00000250237.5	+	7	844	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	278					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)			GTGACATGTTCGACTGCGTCT	0.637																																																	0													136	126	129					19																	10823277		2203	4300	6503	SO:0001819	synonymous_variant	0			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.834C>T	19.37:g.10823277C>T			B4DFM7|Q96BQ4|Q9BXQ9	Silent	SNP	pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like	p.F278	ENST00000250237.5	37	c.834	CCDS12248.1	19																																																																																			QTRT1	-	pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like	ENSG00000213339		0.637	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QTRT1	HGNC	protein_coding	OTTHUMT00000452086.1	-	0	40	0	C	NM_031209		10823277	1	tier1	-	no_errors	ENST00000250237	ensembl	human	known	74_37	silent	37.50	20	12	SNP	1.000	T	T	10823277	C	T	10823277	2	4	153	1	0	0	0	0	0	0	0	1	12930	883	31	1		1	QTRT1	19	10823277	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	1732972	10823277	48305706	186	39154											
ZNF844	284391	genome.wustl.edu	37	chr19	12186633	12186633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtaaacaatgtggtaaagCctttagttattcaacttccc	13	14	6	8	0	1	0	1	0	0	0	2	0	2	0	2	1	3	3	2	1	8	7	rs202098662		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:12186633C>A	ENST00000439326.3	+	4	873	c.698C>A	c.(697-699)gCc>gAc	p.A233D	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGTGGTAAAGCCTTTAGTTAT	0.388																																																	0													42	39	40					19																	12186633		692	1591	2283	SO:0001583	missense	0			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.698C>A	19.37:g.12186633C>A	ENSP00000392024:p.Ala233Asp		Q5JPI8	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A233D	ENST00000439326.3	37	c.698	CCDS45985.1	19	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961144	0.53400	.	.	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505;ENST00000550826	T;T	0.20069	2.1;2.52	2.5	2.5	0.30297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36166	0.0957	L	0.55481	1.735	0.09310	N	1	D	0.63880	0.993	P	0.60345	0.873	T	0.10132	-1.0643	9	0.72032	D	0.01	.	12.0813	0.53671	0.0:1.0:0.0:0.0	.	233	Q08AG5	ZN844_HUMAN	D	233;233;208;76	ENSP00000392024:A233D;ENSP00000448588:A76D	ENSP00000392024:A233D	A	+	2	0	ZNF844	12047633	0.000000	0.05858	0.006000	0.13384	0.572000	0.35998	-2.871000	0.00720	1.381000	0.46364	0.205000	0.17691	GCC	ZNF844	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000223547		0.388	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF844	HGNC	protein_coding	OTTHUMT00000344086.2	-	0	62	0	C			12186633	1	tier1	-	no_errors	ENST00000439326	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.004	A	A	12186633	C	A	12186633	3	1	153	1	0	0	0	0	1	0	0	0	18238	739	26	3	712	3	ZNF844	19	12186633	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	1363356	12186633	46942350	187	39155											
OR1I1	126370	genome.wustl.edu	37	chr19	15198107	15198107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctattatcctccaccacCgtccccaagatgctagcgaa	11	8	5	17	2	0	1	0	0	0	1	3	2	3	1	7	0	2	1	7	0	5	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:15198107C>T	ENST00000209540.2	+	1	317	c.231C>T	c.(229-231)acC>acT	p.T77T		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T77T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCTCCACCACCGTCCCCAAGA	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											233	156	182					19																	15198107		2203	4300	6503	SO:0001819	synonymous_variant	0			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"GPCR / Class A : Olfactory receptors"	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.231C>T	19.37:g.15198107C>T			Q96R92	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T77	ENST00000209540.2	37	c.231	CCDS32937.1	19																																																																																			OR1I1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000094661		0.542	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1I1	HGNC	protein_coding	OTTHUMT00000465665.1		0	36	0	C			15198107	1			no_errors	ENST00000209540	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.895	T	T	15198107	C	T	15198107	2	4	153	1	0	0	0	0	0	0	0	1	10997	639	23	1		1	OR1I1	19	15198107	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	3011474	15198107	43930876	188	39156											
AKAP8L	26993	genome.wustl.edu	37	chr19	15512282	15512282	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcatgcggaactggtcGcggtaggcatcgtattggcc	7	8	14	12	5	0	0	0	0	0	0	2	1	0	1	2	5	2	4	2	5	3	3	rs372081735		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:15512282G>T	ENST00000397410.5	-	5	625	c.495C>A	c.(493-495)cgC>cgA	p.R165R	AKAP8L_ENST00000595465.2_Silent_p.R104R|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	165						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GGAACTGGTCGCGGTAGGCAT	0.647																																																	0													56	56	56					19																	15512282		2112	4214	6326	SO:0001819	synonymous_variant	0			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.495C>A	19.37:g.15512282G>T			B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	pfam_AKAP95	p.R165	ENST00000397410.5	37	c.495	CCDS46005.1	19																																																																																			AKAP8L	-	NULL	ENSG00000011243		0.647	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	-	0	30	0	G	NM_014371		15512282	-1	tier1	-	no_errors	ENST00000397410	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.541	T	T	15512282	G	T	15512282	2	4	153	1	0	0	0	0	0	0	0	1	458	1074	38	2		2	AKAP8L	19	15512282	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	314175	15512282	43616701	189	39157											
ABHD8	79575	genome.wustl.edu	37	chr19	17412293	17412293	+	Frame_Shift_Del	DEL	G	G	-																															gggtcctgcatgcttcacccGcagcacgcggccgggcttga																										TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:17412293delG	ENST00000247706.3	-	2	372	c.133delC	c.(133-135)cggfs	p.R45fs	MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	45							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TGCTTCACCCGCAGCACGCGG	0.692																																					Ovarian(156;1368 2543 15275 41187)												0													16	20	18					19																	17412293		2197	4289	6486	SO:0001589	frameshift_variant	0			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.133delC	19.37:g.17412293delG	ENSP00000247706:p.Arg45fs		Q9HAE9	Frame_Shift_Del	DEL	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.R45fs	ENST00000247706.3	37	c.133	CCDS12355.1	19																																																																																			ABHD8	-	NULL	ENSG00000127220		0.692	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1		0	28	0	G	NM_024527		17412293	-1	tier1		no_errors	ENST00000247706	ensembl	human	known	74_37	frame_shift_del	12.50	14	2	DEL	1.000	-	-	17412293	G	-	17412293	7	5	153	1	0	1	0	1	0	0	0	0	87	1086	38	0	1202	0	ABHD8	19	17412293	Frame_Shift_Del	DEL	G	TCGA-S8-A6BV-01A-21D-A31U-09	1900011	17412293	41716690	190	39158											
MAP1S	55201	genome.wustl.edu	37	chr19	17844182	17844182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaaggaggaaggcatgcGggccgtcctggacgcgctac	8	4	17	12	5	0	0	0	0	0	0	1	3	1	3	2	5	2	3	2	5	3	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:17844182G>A	ENST00000324096.4	+	6	3120	c.2969G>A	c.(2968-2970)cGg>cAg	p.R990Q	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.R964Q	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	990	Necessary for association with actin. {ECO:0000250}.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				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						GAAGGCATGCGGGCCGTCCTG	0.647																																																	0													40	30	33					19																	17844182		2203	4299	6502	SO:0001583	missense	0			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.2969G>A	19.37:g.17844182G>A	ENSP00000325313:p.Arg990Gln		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.R990Q	ENST00000324096.4	37	c.2969	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872617	0.51695	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20332	2.08;2.08	4.38	2.21	0.28008	.	0.145189	0.30483	N	0.009531	T	0.31702	0.0805	M	0.65975	2.015	0.32383	N	0.554321	D;P	0.69078	0.997;0.941	P;B	0.54924	0.764;0.407	T	0.45101	-0.9284	10	0.72032	D	0.01	-25.9577	7.963	0.30083	0.2088:0.0:0.7912:0.0	.	964;990	B4DH53;Q66K74	.;MAP1S_HUMAN	Q	990;964	ENSP00000325313:R990Q;ENSP00000439243:R964Q	ENSP00000325313:R990Q	R	+	2	0	MAP1S	17705182	0.994000	0.37717	0.130000	0.21974	0.002000	0.02628	2.522000	0.45572	0.809000	0.34255	-0.150000	0.13652	CGG	MAP1S	-	NULL	ENSG00000130479		0.647	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1	-	0	58	0	G	NM_018174		17844182	1	tier1	-	no_errors	ENST00000324096	ensembl	human	known	74_37	missense	23.08	40	12	SNP	0.994	A	A	17844182	G	A	17844182	3	1	153	1	0	0	0	0	1	0	0	0	9272	1116	39	1	2991	1	MAP1S	19	17844182	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	431889	17844182	41284801	191	39159											
GATAD2A	54815	genome.wustl.edu	37	chr19	19603235	19603235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgaaggagactagcacCgaggccctcatggtgagcca	10	6	13	12	1	1	3	1	2	0	1	1	5	1	3	4	3	2	1	4	3	2	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:19603235C>T	ENST00000360315.3	+	3	702	c.390C>T	c.(388-390)acC>acT	p.T130T	GATAD2A_ENST00000404158.1_Silent_p.T130T|GATAD2A_ENST00000429563.2_Intron|GATAD2A_ENST00000252577.5_Silent_p.T130T|GATAD2A_ENST00000358713.3_Silent_p.T130T|GATAD2A_ENST00000473184.1_3'UTR|GATAD2A_ENST00000537887.1_Intron	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	130					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|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(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AGACTAGCACCGAGGCCCTCA	0.642																																																	0													53	51	52					19																	19603235		1568	3582	5150	SO:0001819	synonymous_variant	0			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.390C>T	19.37:g.19603235C>T			B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.T130	ENST00000360315.3	37	c.390	CCDS12402.2	19																																																																																			GATAD2A	-	NULL	ENSG00000167491		0.642	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	HGNC	protein_coding	OTTHUMT00000326671.4	-	0	36	0	C	NM_017660		19603235	1	tier1	-	no_errors	ENST00000358713	ensembl	human	known	74_37	silent	37.50	15	9	SNP	0.063	T	T	19603235	C	T	19603235	2	4	153	1	0	0	0	0	0	0	0	1	6285	639	23	1		1	GATAD2A	19	19603235	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	1759053	19603235	39525748	192	39160											
CCNE1	898	genome.wustl.edu	37	chr19	30312917	30312917	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttaggcccttaagtggcgTttaagtcccctgactattgt	7	15	9	10	1	0	1	0	1	0	0	1	1	1	1	3	2	0	1	3	2	4	7			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:30312917T>C	ENST00000262643.3	+	9	999	c.720T>C	c.(718-720)cgT>cgC	p.R240R	CCNE1_ENST00000357943.5_Silent_p.R197R|CCNE1_ENST00000444983.2_Silent_p.R225R	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	240					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TTAAGTGGCGTTTAAGTCCCC	0.443			A		serous ovarian																																			Dom	yes		19	19q12	898	cyclin E1		E	0													189	187	188					19																	30312917		2203	4300	6503	SO:0001819	synonymous_variant	0			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"cyclin Es", "cyclin Et"	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.720T>C	19.37:g.30312917T>C			A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.R240	ENST00000262643.3	37	c.720	CCDS12419.1	19																																																																																			CCNE1	-	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000105173		0.443	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNE1	HGNC	protein_coding	OTTHUMT00000438138.1	-	0	57	0	T	NM_001238		30312917	1	tier1	-	no_errors	ENST00000262643	ensembl	human	known	74_37	silent	25.00	27	9	SNP	0.019	C	C	30312917	T	C	30312917	2	2	153	1	0	0	0	0	0	0	0	1	2927	1712	60	4		4	CCNE1	19	30312917	Silent	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09	10709682	30312917	28816066	193	39161											
ZNF507	22847	genome.wustl.edu	37	chr19	32845530	32845530	+	Silent	SNP	A	A	C	1	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	gaaaaattgagagaaaggacAgaccaaaacgcttcagacga	20	4	10	7	2	1	4	1	1	0	3	1	8	1	5	1	1	1	1	1	1	5	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:32845530A>C	ENST00000311921.4	+	2	1986	c.1794A>C	c.(1792-1794)acA>acC	p.T598T	ZNF507_ENST00000355898.5_Silent_p.T598T|ZNF507_ENST00000544431.1_Silent_p.T598T	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GAGAAAGGACAGACCAAAACG	0.483																																																	0													81	75	77					19																	32845530		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1794A>C	19.37:g.32845530A>C			A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T598	ENST00000311921.4	37	c.1794	CCDS32985.1	19																																																																																			ZNF507	-	NULL	ENSG00000168813		0.483	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	-	0	16	0	A	NM_014910		32845530	1	tier1	-	no_errors	ENST00000311921	ensembl	human	known	74_37	silent	20.83	19	5	SNP	0.997	C	C	32845530	A	C	32845530	2	2	153	1	0	0	0	0	0	0	0	1	18001	175	7	4		4	ZNF507	19	32845530	Silent	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	2532613	32845530	26283453	194	39162											
ZNF585B	92285	genome.wustl.edu	37	chr19	37676372	37676372	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacagtcactgcactcataAggtttctctccagtatgaat	11	12	6	12	0	3	1	2	1	1	0	5	1	4	1	2	1	1	3	2	1	3	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:37676372A>C	ENST00000532828.2	-	5	2318	c.2067T>G	c.(2065-2067)ccT>ccG	p.P689P	ZNF585B_ENST00000312908.5_Silent_p.P277P|ZNF585B_ENST00000531805.1_Silent_p.P634P|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	689					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)			TGCACTCATAAGGTTTCTCTC	0.438																																					Melanoma(93;882 1454 18863 28917 48427)												0													39	39	39					19																	37676372		2202	4280	6482	SO:0001819	synonymous_variant	0			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.2067T>G	19.37:g.37676372A>C			Q8IZD3|Q96JW6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P689	ENST00000532828.2	37	c.2067	CCDS12500.1	19																																																																																			ZNF585B	-	pfscan_Znf_C2H2	ENSG00000245680		0.438	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2		0	49	0	A	NM_152279		37676372	-1			no_errors	ENST00000532828	ensembl	human	known	74_37	silent	19.15	38	9	SNP	0.035	C	C	37676372	A	C	37676372	2	2	153	1	0	0	0	0	0	0	0	1	18066	59	3	4		4	ZNF585B	19	37676372	Silent	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	4830842	37676372	21452611	195	39163											
SIPA1L3	23094	genome.wustl.edu	37	chr19	38610361	38610361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggtgctcctggacttaCgcaccaaggaggtggtgttc	6	12	14	9	1	0	0	0	0	0	0	2	2	1	2	2	5	2	3	2	5	2	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:38610361C>T	ENST00000222345.6	+	9	3216	c.2707C>T	c.(2707-2709)Cgc>Tgc	p.R903C		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	903					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTGGACTTACGCACCAAGGA	0.552																																																	0													114	128	123					19																	38610361		2202	4300	6502	SO:0001583	missense	0			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.2707C>T	19.37:g.38610361C>T	ENSP00000222345:p.Arg903Cys		Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R903C	ENST00000222345.6	37	c.2707	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569558	0.45798	.	.	ENSG00000105738	ENST00000222345	T	0.76060	-0.99	5.75	5.75	0.90469	.	0.240594	0.44688	D	0.000436	T	0.60038	0.2238	N	0.17474	0.49	0.46542	D	0.99909	B	0.24576	0.106	B	0.15052	0.012	T	0.57528	-0.7796	10	0.44086	T	0.13	-28.7885	14.9433	0.71012	0.0:0.8565:0.1435:0.0	.	903	O60292	SI1L3_HUMAN	C	903	ENSP00000222345:R903C	ENSP00000222345:R903C	R	+	1	0	SIPA1L3	43302201	0.001000	0.12720	0.968000	0.41197	0.967000	0.64934	1.130000	0.31393	2.725000	0.93324	0.655000	0.94253	CGC	SIPA1L3	-	NULL	ENSG00000105738		0.552	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	-	0	81	0	C	XM_032278		38610361	1	tier1	-	no_errors	ENST00000222345	ensembl	human	known	74_37	missense	5.56	67	4	SNP	0.955	T	T	38610361	C	T	38610361	3	4	153	1	0	0	0	0	1	0	0	0	14376	536	19	1	2733	1	SIPA1L3	19	38610361	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	933989	38610361	20518622	196	39164											
EID2B	126272	genome.wustl.edu	37	chr19	40022958	40022958	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcatcatcacagccgactCagtcggccagaggactgagg	10	7	12	12	2	4	2	4	1	0	1	5	4	4	3	2	3	1	0	2	3	0	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:40022958C>G	ENST00000326282.4	-	1	536	c.485G>C	c.(484-486)tGa>tCa	p.*162S	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)			ACAGCCGACTCAGTCGGCCAG	0.557																																																	0													32	30	31					19																	40022958		2201	4299	6500	SO:0001578	stop_lost	0			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.485G>C	19.37:g.40022958C>G				Nonstop_Mutation	SNP	NULL	p.*162S	ENST00000326282.4	37	c.485	CCDS12539.1	19	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767224	0.31320	.	.	ENSG00000176401	ENST00000326282	.	.	.	2.28	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7572	0.08589	0.0:0.7332:0.0:0.2668	.	.	.	.	S	162	.	.	X	-	2	2	EID2B	44714798	0.075000	0.21258	0.172000	0.22920	0.836000	0.47400	0.082000	0.14847	0.465000	0.27167	0.460000	0.39030	TGA	EID2B	-	NULL	ENSG00000176401		0.557	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EID2B	HGNC	protein_coding	OTTHUMT00000464961.1	-	0	33	0	C	NM_152361		40022958	-1	tier1	-	no_errors	ENST00000326282	ensembl	human	known	74_37	nonstop	30.30	23	10	SNP	0.215	G	G	40022958	C	G	40022958	4	3	153	1	0	0	0	0	0	0	0	0	5002	837	29	5	4	5	EID2B	19	40022958	Nonstop_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	1412597	40022958	19106025	197	39165											
MAP3K10	4294	genome.wustl.edu	37	chr19	40721128	40721128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgcagcccacactgCtggacatggacatggagggg	9	5	15	12	1	0	0	0	0	0	0	0	3	0	3	2	5	4	2	2	5	0	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:40721128C>A	ENST00000253055.3	+	10	3082	c.2794C>A	c.(2794-2796)Ctg>Atg	p.L932M		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	932					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						GCCCACACTGCTGGACATGGA	0.687																																																	0													9	8	8					19																	40721128		2158	4248	6406	SO:0001583	missense	0			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.2794C>A	19.37:g.40721128C>A	ENSP00000253055:p.Leu932Met		Q12761|Q14871	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.L932M	ENST00000253055.3	37	c.2794	CCDS12549.1	19	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239040	0.22711	.	.	ENSG00000130758	ENST00000253055	D	0.83837	-1.77	4.36	3.31	0.37934	.	0.067733	0.64402	D	0.000012	T	0.75369	0.3840	L	0.40543	1.245	0.37010	D	0.895707	B	0.25772	0.134	B	0.20577	0.03	T	0.76258	-0.3025	10	0.62326	D	0.03	.	11.9797	0.53113	0.0:0.8234:0.1766:0.0	.	932	Q02779	M3K10_HUMAN	M	932	ENSP00000253055:L932M	ENSP00000253055:L932M	L	+	1	2	MAP3K10	45412968	1.000000	0.71417	0.797000	0.32132	0.306000	0.27790	1.911000	0.39937	1.042000	0.40150	0.561000	0.74099	CTG	MAP3K10	-	pirsf_MAPKKK9/10/11	ENSG00000130758		0.687	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	-	0	26	0	C	NM_002446		40721128	1	tier1	-	no_errors	ENST00000253055	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	A	A	40721128	C	A	40721128	3	1	153	1	0	0	0	0	1	0	0	0	9282	796	28	3	2832	3	MAP3K10	19	40721128	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	698170	40721128	18407855	198	39166											
KCNN4	3783	genome.wustl.edu	37	chr19	44271780	44271780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcatccagcttccccGccagcgtgtcaatctgtttc	6	11	9	15	2	3	0	2	0	1	0	6	0	5	0	4	1	2	3	4	1	1	2			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:44271780G>A	ENST00000262888.3	-	8	1594	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	400					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)	CAGCTTCCCCGCCAGCGTGTC	0.607																																																	0													75	73	74					19																	44271780		2203	4300	6503	SO:0001583	missense	0			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.1199C>T	19.37:g.44271780G>A	ENSP00000262888:p.Ala400Val		Q53XR4	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom	p.A400V	ENST00000262888.3	37	c.1199	CCDS12630.1	19	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632543	0.29068	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	D	0.99856	-7.21	3.87	2.8	0.32819	.	0.391333	0.24894	N	0.034754	D	0.98943	0.9641	L	0.44542	1.39	0.34569	D	0.713263	B;B	0.32128	0.118;0.357	B;B	0.24541	0.016;0.054	D	0.99987	1.3514	10	0.72032	D	0.01	-5.3834	6.7514	0.23489	0.0:0.198:0.5977:0.2042	.	294;400	D1MQ10;O15554	.;KCNN4_HUMAN	V	400;268	ENSP00000262888:A400V	ENSP00000262888:A400V	A	-	2	0	KCNN4	48963620	1.000000	0.71417	0.752000	0.31206	0.345000	0.29048	3.559000	0.53756	1.173000	0.42796	0.650000	0.86243	GCG	KCNN4	-	NULL	ENSG00000104783		0.607	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNN4	HGNC	protein_coding	OTTHUMT00000463598.1	-	0	28	0	G	NM_002250		44271780	-1	tier1	-	no_errors	ENST00000262888	ensembl	human	known	74_37	missense	29.79	33	14	SNP	0.896	A	A	44271780	G	A	44271780	3	1	153	1	0	0	0	0	1	0	0	0	8108	1087	38	1	88	1	KCNN4	19	44271780	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	3550652	44271780	14857203	199	39167											
RSPH6A	81492	genome.wustl.edu	37	chr19	46305522	46305522	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcacccaagtgcagcggcCctgggggtggggggaagctc	6	6	18	11	1	1	0	1	0	0	0	2	1	1	1	2	6	3	3	2	6	2	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:46305522C>A	ENST00000221538.3	-	4	1796	c.1654G>T	c.(1654-1656)Ggc>Tgc	p.G552C	RSPH6A_ENST00000597055.1_Splice_Site_p.G552C|RSPH6A_ENST00000600188.1_Splice_Site_p.G288C	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	552	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						GTGCAGCGGCCCTGGGGGTGG	0.642																																																	0													36	25	29					19																	46305522		2201	4293	6494	SO:0001630	splice_region_variant	0			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.1654-1G>T	19.37:g.46305522C>A			Q53FE2|Q6PEZ9	Missense_Mutation	SNP	pfam_Radial_spoke	p.G552C	ENST00000221538.3	37	c.1654	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150022	0.78001	.	.	ENSG00000104941	ENST00000221538	T	0.72051	-0.62	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.86443	0.5934	M	0.92169	3.28	0.52099	D	0.999947	D	0.89917	1.0	D	0.97110	1.0	D	0.88794	0.3280	10	0.87932	D	0	7.5978	12.542	0.56177	0.0:1.0:0.0:0.0	.	552	Q9H0K4	RSH6A_HUMAN	C	552	ENSP00000221538:G552C	ENSP00000221538:G552C	G	-	1	0	RSPH6A	50997362	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.052000	0.71080	2.678000	0.91216	0.456000	0.33151	GGC	RSPH6A	-	pfam_Radial_spoke	ENSG00000104941		0.642	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1		0	30	0	C		Missense_Mutation	46305522	-1			no_errors	ENST00000221538	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	A	A	46305522	C	A	46305522	5	1	153	1	0	0	0	0	0	0	1	0	13752	637	22	3	511	3	RSPH6A	19	46305522	Splice_Site	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	2033742	46305522	12823461	200	39168											
CCDC114	93233	genome.wustl.edu	37	chr19	48800586	48800586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggccaagagagccacGgtctctgctagtcttgtggc	7	9	14	11	2	2	1	0	0	2	1	3	3	2	1	2	3	2	1	2	3	2	2	rs369825835		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:48800586G>A	ENST00000315396.7	-	14	2342	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	554					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGAGAGCCACGGTCTCTGCTA	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		16499	0		0	False		,,,				2504	0																0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	49	52	51		1660	3.1	0	19		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC114	NM_144577.3	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	554/671	48800586	2,13004	2203	4300	6503	SO:0001583	missense	0			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1660C>T	19.37:g.48800586G>A	ENSP00000318429:p.Arg554Cys		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NULL	p.R554C	ENST00000315396.7	37	c.1660	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840794	0.51057	2.27E-4	1.16E-4	ENSG00000105479	ENST00000315396	T	0.32272	1.46	3.14	3.14	0.36123	.	.	.	.	.	T	0.34600	0.0903	N	0.14661	0.345	0.09310	N	0.999999	D	0.89917	1.0	D	0.68765	0.96	T	0.11179	-1.0598	9	0.62326	D	0.03	1.0E-4	10.0156	0.42011	0.0:0.0:1.0:0.0	.	554	Q96M63	CC114_HUMAN	C	554	ENSP00000318429:R554C	ENSP00000318429:R554C	R	-	1	0	CCDC114	53492398	0.335000	0.24748	0.018000	0.16275	0.040000	0.13550	3.982000	0.56909	2.038000	0.60285	0.561000	0.74099	CGT	CCDC114	-	NULL	ENSG00000105479		0.647	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1		0	51	0	G	NM_144577		48800586	-1			no_errors	ENST00000315396	ensembl	human	known	74_37	missense	8.16	44	4	SNP	0.158	A	A	48800586	G	A	48800586	3	1	153	1	0	0	0	0	1	0	0	0	2758	1116	39	1	356	1	CCDC114	19	48800586	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	2495064	48800586	10328397	201	39169											
KCNC3	3748	genome.wustl.edu	37	chr19	50831847	50831847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagctcctcctcaaacagggGcccgcacacgtcggctgggc	7	5	13	16	3	1	0	1	0	0	0	4	1	3	0	3	4	2	3	3	4	1	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:50831847G>T	ENST00000477616.1	-	1	787	c.493C>A	c.(493-495)Ccc>Acc	p.P165T	KCNC3_ENST00000376959.2_Missense_Mutation_p.P165T|NR1H2_ENST00000542413.1_5'Flank|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	165					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	TCAAACAGGGGCCCGCACACG	0.657																																					Melanoma(91;1496 2324 50908)												0													28	33	32					19																	50831847		2203	4296	6499	SO:0001583	missense	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.493C>A	19.37:g.50831847G>T	ENSP00000434241:p.Pro165Thr			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.P165T	ENST00000477616.1	37	c.493	CCDS12793.1	19	.	.	.	.	.	.	.	.	.	.	g	15.02	2.708080	0.48412	.	.	ENSG00000131398	ENST00000376959;ENST00000477616	T;T	0.75704	-0.96;-0.96	2.31	2.31	0.28768	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000016	T	0.80308	0.4599	L	0.55990	1.75	0.80722	D	1	D	0.67145	0.996	D	0.69824	0.966	T	0.81284	-0.1002	10	0.87932	D	0	.	10.3868	0.44145	0.0:0.0:1.0:0.0	.	165	Q14003	KCNC3_HUMAN	T	165	ENSP00000366158:P165T;ENSP00000434241:P165T	ENSP00000366158:P165T	P	-	1	0	KCNC3	55523659	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	6.552000	0.73914	1.327000	0.45338	0.177000	0.17058	CCC	KCNC3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3	ENSG00000131398		0.657	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2		0	79	0	G	NM_004977		50831847	-1			no_errors	ENST00000477616	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	50831847	G	T	50831847	3	4	153	1	0	0	0	0	1	0	0	0	8043	1203	42	3	1796	3	KCNC3	19	50831847	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	2031261	50831847	8297136	202	39170											
NLRP8	126205	genome.wustl.edu	37	chr19	56466078	56466078	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgggatcggaaaaacaatCctggccaaaaaggtgatgtt	14	8	11	8	1	0	1	0	1	0	0	2	3	1	3	3	4	1	1	3	4	5	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr19:56466078C>A	ENST00000291971.3	+	3	725	c.654C>A	c.(652-654)atC>atA	p.I218I	NLRP8_ENST00000590542.1_Silent_p.I218I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	218	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)		GAAAAACAATCCTGGCCAAAA	0.527																																																	0													91	73	79					19																	56466078		2203	4300	6503	SO:0001819	synonymous_variant	0			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.654C>A	19.37:g.56466078C>A			Q7RTR4	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.I218	ENST00000291971.3	37	c.654	CCDS12937.1	19																																																																																			NLRP8	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000179709		0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	-	0	51	0	C	NM_176811		56466078	1	tier1	-	no_errors	ENST00000291971	ensembl	human	known	74_37	silent	17.02	39	8	SNP	0.233	A	A	56466078	C	A	56466078	2	1	153	1	0	0	0	0	0	0	0	1	10522	845	30	3		3	NLRP8	19	56466078	Silent	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	5634231	56466078	2662905	203	39171											
ANKRD5	63926	genome.wustl.edu	37	chr20	10032330	10032330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctaacgttaatgcaacaGataactttctgtggactcca	13	11	8	9	1	1	1	0	0	1	1	2	3	2	2	1	1	5	3	1	1	4	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr20:10032330G>A	ENST00000378380.3	+	7	1992	c.1663G>A	c.(1663-1665)Gat>Aat	p.D555N	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D555N|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	555							calcium ion binding (GO:0005509)										TAATGCAACAGATAACTTTCT	0.363																																																	0													89	83	85					20																	10032330		2203	4300	6503	SO:0001583	missense	0			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1663G>A	20.37:g.10032330G>A	ENSP00000367631:p.Asp555Asn		B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt	p.D555N	ENST00000378380.3	37	c.1663	CCDS13108.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.148763	0.94603	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.73469	-0.75;-0.75	5.72	5.72	0.89469	Ankyrin repeat-containing domain (4);	0.085017	0.85682	D	0.000000	T	0.80783	0.4689	L	0.27975	0.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81540	-0.0886	10	0.59425	D	0.04	-10.4482	20.2504	0.98404	0.0:0.0:1.0:0.0	.	555	Q9NU02	ANKR5_HUMAN	N	555	ENSP00000367644:D555N;ENSP00000367631:D555N	ENSP00000367631:D555N	D	+	1	0	ANKRD5	9980330	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.711000	0.91396	2.850000	0.98022	0.650000	0.86243	GAT	ANKEF1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000132623		0.363	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKEF1	HGNC	protein_coding	OTTHUMT00000077968.2	-	0	18	0	G	NM_022096		10032330	1	tier1	-	no_errors	ENST00000378380	ensembl	human	known	74_37	missense	33.33	16	8	SNP	1.000	A	A	10032330	G	A	10032330	3	1	153	1	0	0	0	0	1	0	0	0	676	942	33	3	1685	3	ANKRD5	20	10032330	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09		10032330	52993190	204	39172											
ACSS1	84532	genome.wustl.edu	37	chr20	25011577	25011577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgttggccaggcggcacGtggtctccagtagttccctg	4	10	15	12	3	1	0	0	0	1	0	3	0	2	0	3	4	0	4	3	4	1	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr20:25011577G>C	ENST00000323482.4	-	3	528	c.449C>G	c.(448-450)aCg>aGg	p.T150R	ACSS1_ENST00000432802.2_Missense_Mutation_p.T150R|ACSS1_ENST00000537502.1_Missense_Mutation_p.T67R|ACSS1_ENST00000542618.1_Missense_Mutation_p.T29R	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	150					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAGGCGGCACGTGGTCTCCAG	0.582																																																	0													64	53	56					20																	25011577		2203	4300	6503	SO:0001583	missense	0				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.449C>G	20.37:g.25011577G>C	ENSP00000316924:p.Thr150Arg		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig	p.T150R	ENST00000323482.4	37	c.449	CCDS13167.1	20	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840170	0.91117	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.95	5.95	0.96441	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.75213	0.3819	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;0.997	D;D;D;D	0.79784	0.993;0.986;0.992;0.98	T	0.78892	-0.2025	10	0.87932	D	0	-29.1388	18.9634	0.92685	0.0:0.0:1.0:0.0	.	150;150;150;67	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	R	150;150;67;150;29	ENSP00000316924:T150R;ENSP00000439304:T67R;ENSP00000388793:T150R;ENSP00000437657:T29R	ENSP00000316924:T150R	T	-	2	0	ACSS1	24959577	1.000000	0.71417	0.967000	0.41034	0.980000	0.70556	9.361000	0.97122	2.825000	0.97269	0.655000	0.94253	ACG	ACSS1	-	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig	ENSG00000154930		0.582	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	HGNC	protein_coding	OTTHUMT00000078386.2	-	0	25	0	G	NM_032501		25011577	-1	tier1	-	no_errors	ENST00000323482	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	C	C	25011577	G	C	25011577	3	2	153	1	0	0	0	0	1	0	0	0	188	1145	40	5	1668	5	ACSS1	20	25011577	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	14979247	25011577	38013943	205	39173											
HCK	3055	genome.wustl.edu	37	chr20	30671802	30671802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcttctacatatccccccGaagcaccttcagcactctgc	8	9	7	17	1	3	0	1	0	2	0	4	1	4	0	4	1	4	3	4	1	3	4	rs202001086		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr20:30671802G>A	ENST00000520553.1	+	7	821	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	HCK_ENST00000375862.2_Missense_Mutation_p.R212Q|HCK_ENST00000538448.1_Missense_Mutation_p.R192Q|HCK_ENST00000375852.2_Missense_Mutation_p.R213Q|HCK_ENST00000534862.1_Missense_Mutation_p.R193Q|HCK_ENST00000518730.1_Missense_Mutation_p.R191Q	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	213	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	ATATCCCCCCGAAGCACCTTC	0.582													G|||	1	0.000199681	0	0	5008	,	,		20093	0		0.001	False		,,,				2504	0																0													58	57	58					20																	30671802		2203	4300	6503	SO:0001583	missense	0			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.575G>A	20.37:g.30671802G>A	ENSP00000429848:p.Arg192Gln		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.R213Q	ENST00000520553.1	37	c.638	CCDS54455.1	20	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.27	3.348172	0.61183	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.0	3.07	0.35406	SH2 motif (4);	0.139188	0.49305	D	0.000156	D	0.85881	0.5800	L	0.54323	1.7	0.33918	D	0.640537	P;P	0.50528	0.822;0.936	B;B	0.43301	0.291;0.415	D	0.88657	0.3186	10	0.87932	D	0	.	10.6826	0.45823	0.1545:0.0:0.8455:0.0	.	191;213	P08631-3;P08631	.;HCK_HUMAN	Q	193;192;212;192;191;213	ENSP00000444986:R193Q;ENSP00000441169:R192Q;ENSP00000365022:R212Q;ENSP00000429848:R192Q;ENSP00000427757:R191Q;ENSP00000365012:R213Q	ENSP00000365012:R213Q	R	+	2	0	HCK	30135463	0.826000	0.29277	0.541000	0.28102	0.376000	0.30014	3.981000	0.56902	0.725000	0.32318	0.555000	0.69702	CGA	HCK	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000101336		0.582	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	HGNC	protein_coding	OTTHUMT00000375751.1		0	17	0	G			30671802	1			no_errors	ENST00000375852	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.565	A	A	30671802	G	A	30671802	3	1	153	1	0	0	0	0	1	0	0	0	7021	1058	37	1	670	1	HCK	20	30671802	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	5660225	30671802	32353718	206	39174											
PTPRT	11122	genome.wustl.edu	37	chr20	40944500	40944500	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcaggttggcaggcttcaActcagcagcaaagtagtgta	12	8	13	8	0	2	0	2	0	0	0	2	0	2	0	0	4	3	8	0	4	4	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr20:40944500A>C	ENST00000373187.1	-	12	2001	c.2002T>G	c.(2002-2004)Ttg>Gtg	p.L668V	PTPRT_ENST00000373190.1_Missense_Mutation_p.L668V|PTPRT_ENST00000373184.1_Missense_Mutation_p.L668V|PTPRT_ENST00000373193.3_Missense_Mutation_p.L668V|PTPRT_ENST00000373198.4_Missense_Mutation_p.L668V|PTPRT_ENST00000373201.1_Missense_Mutation_p.L668V|PTPRT_ENST00000356100.2_Missense_Mutation_p.L668V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	668	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCAGGCTTCAACTCAGCAGCA	0.517																																																	0													129	129	129					20																	40944500		2011	4158	6169	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2002T>G	20.37:g.40944500A>C	ENSP00000362283:p.Leu668Val		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L668V	ENST00000373187.1	37	c.2002	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615477	0.66672	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.19;1.23;1.18;1.18	5.57	-1.88	0.07713	.	0.000000	0.64402	D	0.000001	T	0.40347	0.1113	M	0.70595	2.14	0.47476	D	0.999434	P;P	0.41524	0.753;0.638	P;B	0.44811	0.461;0.175	T	0.48547	-0.9026	10	0.72032	D	0.01	.	12.7576	0.57345	0.4075:0.0:0.5925:0.0	.	668;668	O14522-1;O14522	.;PTPRT_HUMAN	V	668	ENSP00000362286:L668V;ENSP00000362283:L668V;ENSP00000362289:L668V;ENSP00000348408:L668V;ENSP00000362294:L668V;ENSP00000362280:L668V;ENSP00000362297:L668V	ENSP00000348408:L668V	L	-	1	2	PTPRT	40377914	0.033000	0.19621	0.401000	0.26359	0.994000	0.84299	0.049000	0.14099	-0.392000	0.07751	0.460000	0.39030	TTG	PTPRT	-	NULL	ENSG00000196090		0.517	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	51	0	A			40944500	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	43.10	33	25	SNP	0.707	C	C	40944500	A	C	40944500	3	2	153	1	0	0	0	0	1	0	0	0	12857	40	2	4	2464	4	PTPRT	20	40944500	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	10272698	40944500	22081020	207	39175											
CASS4	57091	genome.wustl.edu	37	chr20	55027029	55027029	+	Missense_Mutation	SNP	A	A	G	1	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	tctcaccagctttgcggaagAatcaaggccccacgctctcc	9	8	8	16	2	3	1	2	0	2	1	5	2	3	2	4	2	2	2	4	2	3	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr20:55027029A>G	ENST00000360314.3	+	6	1022	c.797A>G	c.(796-798)gAa>gGa	p.E266G	CASS4_ENST00000371336.3_Missense_Mutation_p.E266G|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	266					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						TTTGCGGAAGAATCAAGGCCC	0.512																																																	0													66	68	68					20																	55027029		2203	4300	6503	SO:0001583	missense	0			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.797A>G	20.37:g.55027029A>G	ENSP00000353462:p.Glu266Gly		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.E266G	ENST00000360314.3	37	c.797	CCDS33492.1	20	.	.	.	.	.	.	.	.	.	.	A	11.26	1.586205	0.28268	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.13901	2.55;2.55	5.23	1.64	0.23874	.	2.857690	0.00706	N	0.000800	T	0.14527	0.0351	L	0.60455	1.87	0.09310	N	1	P;B;B	0.35077	0.483;0.004;0.003	B;B;B	0.30943	0.122;0.007;0.003	T	0.22977	-1.0201	10	0.23891	T	0.37	-1.0649	4.9962	0.14240	0.6262:0.1451:0.2286:0.0	.	212;266;266	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	G	266	ENSP00000353462:E266G;ENSP00000360387:E266G	ENSP00000353462:E266G	E	+	2	0	CASS4	54460436	0.470000	0.25854	0.001000	0.08648	0.039000	0.13416	2.316000	0.43761	0.061000	0.16311	0.460000	0.39030	GAA	CASS4	-	NULL	ENSG00000087589		0.512	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	-	0	42	0	A	NM_020356		55027029	1	tier1	-	no_errors	ENST00000360314	ensembl	human	known	74_37	missense	35.00	26	14	SNP	0.000	G	G	55027029	A	G	55027029	3	3	153	1	0	0	0	0	1	0	0	0	2690	246	9	4	815	4	CASS4	20	55027029	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09	14082529	55027029	7998491	208	39176											
GNAS	2778	genome.wustl.edu	37	chr20	57428459	57428459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctgggcctagcccagccGaagagatggagaccgaaccg	10	4	15	12	3	0	2	0	0	0	2	0	6	0	2	5	2	4	1	5	2	3	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr20:57428459G>A	ENST00000371100.4	+	1	691	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371099.2_Missense_Mutation_p.E47K|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_5'Flank|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371102.4_Missense_Mutation_p.E47K|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TAGCCCAGCCGAAGAGATGGA	0.642			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													13	15	15					20																	57428459		1867	4090	5957	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.139G>A	20.37:g.57428459G>A	ENSP00000360141:p.Glu47Lys		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.E47K	ENST00000371100.4	37	c.139	CCDS46622.1	20	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368028	0.61513	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.92647	-3.08;-3.06	4.56	3.51	0.40186	.	.	.	.	.	D	0.91965	0.7455	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	P	0.52793	0.709	D	0.91558	0.5262	9	0.66056	D	0.02	.	9.8153	0.40849	0.0:0.2098:0.7902:0.0	.	47	Q5JWF2	GNAS1_HUMAN	K	47	ENSP00000360141:E47K;ENSP00000360143:E47K	ENSP00000360140:E47K	E	+	1	0	GNAS	56861854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.831000	0.27476	2.469000	0.83416	0.563000	0.77884	GAA	GNAS	-	NULL	ENSG00000087460		0.642	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080417.3	-	0	16	0	G	NM_000516		57428459	1	tier1	-	no_errors	ENST00000371100	ensembl	human	putative	74_37	missense	33.33	12	6	SNP	1.000	A	A	57428459	G	A	57428459	3	1	153	1	0	0	0	0	1	0	0	0	6536	1059	37	1	883	1	GNAS	20	57428459	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	2401430	57428459	5597061	209	39177											
SRMS	6725	genome.wustl.edu	37	chr20	62172557	62172557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	gacccaccttcatagggacaCtggccataggtgaaaacctc	12	7	9	13	0	1	1	1	1	0	0	2	3	1	2	4	3	1	0	4	3	4	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr20:62172557C>G	ENST00000217188.1	-	7	1312	c.1272G>C	c.(1270-1272)caG>caC	p.Q424H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	424	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CATAGGGACACTGGCCATAGG	0.632																																																	0													61	64	63					20																	62172557		2202	4300	6502	SO:0001583	missense	0				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.1272G>C	20.37:g.62172557C>G	ENSP00000217188:p.Gln424His			Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.Q424H	ENST00000217188.1	37	c.1272	CCDS13525.1	20	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694348	0.68386	.	.	ENSG00000125508	ENST00000217188	D	0.83075	-1.68	4.98	4.02	0.46733	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.117297	0.38605	N	0.001628	D	0.87728	0.6250	L	0.54323	1.7	0.33428	D	0.580772	D	0.61080	0.989	D	0.65684	0.937	D	0.91540	0.5249	10	0.87932	D	0	.	13.5995	0.62011	0.0:0.9223:0.0:0.0776	.	424	Q9H3Y6	SRMS_HUMAN	H	424	ENSP00000217188:Q424H	ENSP00000217188:Q424H	Q	-	3	2	SRMS	61643001	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.877000	0.28106	1.220000	0.43490	0.655000	0.94253	CAG	SRMS	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000125508		0.632	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SRMS	HGNC	protein_coding	OTTHUMT00000080148.1	-	0	43	0	C	NM_080823		62172557	-1	tier1	-	no_errors	ENST00000217188	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	G	G	62172557	C	G	62172557	3	3	153	1	0	0	0	0	1	0	0	0	15199	564	20	5	202	5	SRMS	20	62172557	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	4744098	62172557	852963	210	39178											
NPBWR2	2832	genome.wustl.edu	37	chr20	62737466	62737466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcggagccgcacggccCgcagcctgcgcaggaggtct	7	3	16	15	5	1	1	0	0	1	1	1	3	1	3	3	4	4	3	3	4	0	0	rs139565347	byFrequency	TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr20:62737466C>T	ENST00000369768.1	-	1	1058	c.719G>A	c.(718-720)cGg>cAg	p.R240Q		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	240					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCGCACGGCCCGCAGCCTGCG	0.662													C|||	2	0.000399361	0.0015	0	5008	,	,		16749	0		0	False		,,,				2504	0																0								C	GLN/ARG	3,4393	4.2+/-10.8	0,3,2195	44	40	41		719	-1.9	0	20	dbSNP_134	41	0,8586		0,0,4293	no	missense	NPBWR2	NM_005286.2	43	0,3,6488	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging	240/334	62737466	3,12979	2198	4293	6491	SO:0001583	missense	0			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.719G>A	20.37:g.62737466C>T	ENSP00000358783:p.Arg240Gln		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.R240Q	ENST00000369768.1	37	c.719	CCDS13557.1	20	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250343	0.39797	6.82E-4	0.0	ENSG00000125522	ENST00000369768	T	0.42131	0.98	4.01	-1.94	0.07571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.48750	0.1517	M	0.70842	2.15	0.21386	N	0.9997	D	0.71674	0.998	P	0.58873	0.847	T	0.46721	-0.9171	10	0.72032	D	0.01	.	4.6894	0.12772	0.1379:0.5275:0.0:0.3346	.	240	P48146	NPBW2_HUMAN	Q	240	ENSP00000358783:R240Q	ENSP00000358783:R240Q	R	-	2	0	NPBWR2	62207910	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	1.184000	0.32053	-0.901000	0.03891	-0.339000	0.08088	CGG	NPBWR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt	ENSG00000125522		0.662	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR2	HGNC	protein_coding	OTTHUMT00000080300.1	-	0	20	0	C	NM_005286		62737466	-1	tier1	rs139565347	no_errors	ENST00000369768	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.363	T	T	62737466	C	T	62737466	3	4	153	1	0	0	0	0	1	0	0	0	10608	652	23	1	285	1	NPBWR2	20	62737466	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	564909	62737466	288054	211	39179											
GART	2618	genome.wustl.edu	37	chr21	34876758	34876758	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccagtaactgtgactccGgtttccagggcttgctcatg	7	11	10	13	1	1	1	1	1	0	0	3	1	3	1	3	2	2	4	3	2	1	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr21:34876758G>T	ENST00000381831.3	-	21	3065	c.2802C>A	c.(2800-2802)acC>acA	p.T934T	GART_ENST00000381839.3_Silent_p.T934T|GART_ENST00000381815.4_Silent_p.T934T|GART_ENST00000543717.1_Silent_p.T486T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	934	GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CTGTGACTCCGGTTTCCAGGG	0.403																																																	0													102	103	103					21																	34876758		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2802C>A	21.37:g.34876758G>T			A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.T934	ENST00000381831.3	37	c.2802	CCDS13627.1	21																																																																																			GART	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_PurN_trans	ENSG00000159131		0.403	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3		0	23	0	G	NM_000819		34876758	-1			no_errors	ENST00000381815	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.004	T	T	34876758	G	T	34876758	2	4	153	1	0	0	0	0	0	0	0	1	6268	1103	39	2		2	GART	21	34876758	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09		34876758	13253137	212	39180											
BPIL2	254240	genome.wustl.edu	37	chr22	32833811	32833811	+	Missense_Mutation	SNP	A	A	G	1	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	tgattagggagtaatccagcAgagtgtagttgtcaatcttg	11	13	12	5	0	2	2	1	1	1	1	3	3	3	3	1	1	1	4	1	1	4	5			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr22:32833811A>G	ENST00000397452.1	-	8	793	c.683T>C	c.(682-684)cTg>cCg	p.L228P	BPIFC_ENST00000300399.3_Missense_Mutation_p.L228P|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Missense_Mutation_p.L42P			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	228						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.L228Q(1)									GTAATCCAGCAGAGTGTAGTT	0.343																																																	1	Substitution - Missense(1)	lung(1)											92	85	87					22																	32833811		2203	4300	6503	SO:0001583	missense	0			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.683T>C	22.37:g.32833811A>G	ENSP00000380594:p.Leu228Pro		A2RRF1	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L228P	ENST00000397452.1	37	c.683	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	A	17.94	3.512381	0.64522	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	T;T;T	0.04809	3.55;3.55;3.55	5.68	5.68	0.88126	.	0.630111	0.16166	N	0.226515	T	0.10337	0.0253	M	0.68317	2.08	0.80722	D	1	P;P	0.49447	0.859;0.924	P;B	0.46629	0.522;0.34	T	0.13019	-1.0525	10	0.30078	T	0.28	-0.537	12.5975	0.56478	1.0:0.0:0.0:0.0	.	42;228	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	P	228;228;42	ENSP00000380594:L228P;ENSP00000300399:L228P;ENSP00000408920:L42P	ENSP00000300399:L228P	L	-	2	0	BPIFC	31163811	0.650000	0.27331	0.925000	0.36789	0.866000	0.49608	3.160000	0.50739	2.289000	0.77006	0.533000	0.62120	CTG	BPIFC	-	superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000184459		0.343	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2		0	29	0	A	NM_174932		32833811	-1			no_errors	ENST00000300399	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.966	G	G	32833811	A	G	32833811	3	3	153	1	0	0	0	0	1	0	0	0	1496	188	7	4	876	4	BPIL2	22	32833811	Missense_Mutation	SNP	A	TCGA-S8-A6BV-01A-21D-A31U-09		32833811	18470755	213	39181											
MCHR1	2847	genome.wustl.edu	37	chr22	41077867	41077867	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	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	tgaagcctgcagcccaggggCagcttcgcgctgtcagcaac	8	6	13	14	2	1	1	1	1	0	0	2	1	1	1	2	2	6	5	2	2	2	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr22:41077867C>T	ENST00000249016.4	+	2	1900	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Nonsense_Mutation_p.Q276*	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	402					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						AGCCCAGGGGCAGCTTCGCGC	0.597																																																	0													74	64	68					22																	41077867		2203	4300	6503	SO:0001587	stop_gained	0				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.1204C>T	22.37:g.41077867C>T	ENSP00000249016:p.Gln402*		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn	p.Q402*	ENST00000249016.4	37	c.1204	CCDS14004.1	22	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784851	0.90282	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	.	.	.	5.4	5.4	0.78164	.	0.501614	0.21726	N	0.070044	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	15.0416	0.71796	0.0:1.0:0.0:0.0	.	.	.	.	X	402;276	.	ENSP00000249016:Q402X	Q	+	1	0	MCHR1	39407813	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.158000	0.31737	2.698000	0.92095	0.655000	0.94253	CAG	MCHR1	-	prints_MCH1_rcpt	ENSG00000128285		0.597	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR1	HGNC	protein_coding	OTTHUMT00000317142.1		0	19	0	C	NM_005297		41077867	1			no_errors	ENST00000249016	ensembl	human	known	74_37	nonsense	9.09	30	3	SNP	1.000	T	T	41077867	C	T	41077867	4	4	153	1	0	0	0	0	0	1	0	0	9420	711	25	3	1210	3	MCHR1	22	41077867	Nonsense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	8244056	41077867	10226699	214	39182											
WNT7B	7477	genome.wustl.edu	37	chr22	46327149	46327149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagccctgcttctcgcggtcGcagccgcagttgctcaggtt	4	11	12	14	4	2	0	1	0	1	0	4	0	2	0	2	2	4	6	2	2	1	4	rs368229070		TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr22:46327149G>A	ENST00000339464.4	-	3	773	c.399C>T	c.(397-399)tgC>tgT	p.C133C	WNT7B_ENST00000410058.1_Silent_p.C133C|WNT7B_ENST00000410089.1_Silent_p.C117C|WNT7B_ENST00000409496.3_Silent_p.C137C	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	133					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)		TCTCGCGGTCGCAGCCGCAGT	0.687																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	43	41	42		399	-3.8	1	22		42	0,8600		0,0,4300	no	coding-synonymous	WNT7B	NM_058238.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		133/350	46327149	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.399C>T	22.37:g.46327149G>A			B8A596|Q96Q12	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.C133	ENST00000339464.4	37	c.399	CCDS33667.1	22																																																																																			WNT7B	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000188064		0.687	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	-	0	45	0	G	NM_058238		46327149	-1	tier1	-	no_errors	ENST00000339464	ensembl	human	known	74_37	silent	36.73	31	18	SNP	0.994	A	A	46327149	G	A	46327149	2	1	153	1	0	0	0	0	0	0	0	1	17444	1079	38	1		1	WNT7B	22	46327149	Silent	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	5249282	46327149	4977417	215	39183											
PKDREJ	10343	genome.wustl.edu	37	chr22	46654703	46654703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaagcctttggaagcctgGgctttcctttagatgcaggt	8	12	13	8	0	0	2	0	0	0	2	1	4	1	3	3	3	3	2	3	3	3	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr22:46654703G>C	ENST00000253255.5	-	1	4516	c.4517C>G	c.(4516-4518)cCc>cGc	p.P1506R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1506					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)		TGGAAGCCTGGGCTTTCCTTT	0.507																																																	0													197	197	197					22																	46654703		2203	4300	6503	SO:0001583	missense	0			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.4517C>G	22.37:g.46654703G>C	ENSP00000253255:p.Pro1506Arg		B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2	p.P1506R	ENST00000253255.5	37	c.4517	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	G	7.505	0.653466	0.14580	.	.	ENSG00000130943	ENST00000253255	T	0.35236	1.32	4.87	4.87	0.63330	.	4.392830	0.00610	N	0.000405	T	0.38427	0.1040	L	0.44542	1.39	0.09310	N	1	D	0.54964	0.969	P	0.45037	0.467	T	0.31696	-0.9934	10	0.10377	T	0.69	-2.8966	12.3435	0.55107	0.0:0.0:0.8319:0.1681	.	1506	Q9NTG1	PKDRE_HUMAN	R	1506	ENSP00000253255:P1506R	ENSP00000253255:P1506R	P	-	2	0	PKDREJ	45033367	0.001000	0.12720	0.008000	0.14137	0.023000	0.10783	0.584000	0.23864	2.416000	0.81992	0.484000	0.47621	CCC	PKDREJ	-	NULL	ENSG00000130943		0.507	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1		0	58	0	G	NM_006071		46654703	-1			no_errors	ENST00000253255	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.008	C	C	46654703	G	C	46654703	3	2	153	1	0	0	0	0	1	0	0	0	12009	1232	43	5	2248	5	PKDREJ	22	46654703	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	327554	46654703	4649863	216	39184											
SBF1	6305	genome.wustl.edu	37	chr22	50893823	50893823	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggggtctgagagcagctGcaccaaggataccacctgcc	11	5	13	12	0	1	1	0	1	1	1	1	4	1	2	4	3	5	3	4	3	3	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chr22:50893823G>A	ENST00000390679.3	-	32	4490	c.4306C>T	c.(4306-4308)Cag>Tag	p.Q1436*	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Nonsense_Mutation_p.Q1437*|SBF1_ENST00000380817.3_Nonsense_Mutation_p.Q1462*			O95248	MTMR5_HUMAN	SET binding factor 1	1436	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAGCAGCTGCACCAAGGAT	0.672																																																	0													32	42	39					22																	50893823		2199	4288	6487	SO:0001587	stop_gained	0			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.4306C>T	22.37:g.50893823G>A	ENSP00000375097:p.Gln1436*		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Nonsense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.Q1462*	ENST00000390679.3	37	c.4384		22	.	.	.	.	.	.	.	.	.	.	G	47	13.070636	0.99717	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	.	.	.	4.12	4.12	0.48240	.	0.130014	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5077	0.84277	0.0:0.0:1.0:0.0	.	.	.	.	X	1462;1437;1472;1436	.	ENSP00000336522:Q1472X	Q	-	1	0	SBF1	49240689	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.364000	0.97136	2.294000	0.77228	0.563000	0.77884	CAG	SBF1	-	NULL	ENSG00000100241		0.672	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding			0	88	0	G			50893823	-1			no_errors	ENST00000380817	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	A	A	50893823	G	A	50893823	4	1	153	1	0	0	0	0	0	1	0	0	13903	1328	46	3	1333	3	SBF1	22	50893823	Nonsense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	4239120	50893823	410743	217	39185											
AKAP4	8852	genome.wustl.edu	37	chrX	49958695	49958695	+	Silent	SNP	T	T	C	0	1	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	tggattaccagagaagatagTcggttgacgtagaaggaaag	15	8	14	4	2	0	4	0	1	0	3	1	7	0	6	1	3	1	2	1	3	6	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chrX:49958695T>C	ENST00000376056.2	-	5	792	c.642A>G	c.(640-642)cgA>cgG	p.R214R	AKAP4_ENST00000376064.3_Silent_p.R214R|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Silent_p.R223R					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)					GAGAAGATAGTCGGTTGACGT	0.468																																																	0													165	147	153					X																	49958695		2203	4300	6503	SO:0001819	synonymous_variant	0			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.642A>G	X.37:g.49958695T>C				Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.R223	ENST00000376056.2	37	c.669	CCDS14330.1	X																																																																																			AKAP4	-	pfam_RII_binding_1,smart_AKAP_110	ENSG00000147081		0.468	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	-	0	73	0	T	NM_003886		49958695	-1	tier1	-	no_errors	ENST00000358526	ensembl	human	known	74_37	silent	29.11	55	23	SNP	0.297	C	C	49958695	T	C	49958695	2	2	153	1	0	0	0	0	0	0	0	1	453	1654	58	4		4	AKAP4	23	49958695	Silent	SNP	T	TCGA-S8-A6BV-01A-21D-A31U-09		49958695	105311865	218	39186											
BMP15	9210	genome.wustl.edu	37	chrX	50659038	50659038	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagggacacaggatcctaCgactccgttttatgtgtcag	11	10	10	10	2	1	0	1	0	0	0	3	3	3	2	2	2	1	1	2	2	3	3			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chrX:50659038C>T	ENST00000252677.3	+	2	610	c.610C>T	c.(610-612)Cga>Tga	p.R204*		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	204					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)		p.R204*(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CAGGATCCTACGACTCCGTTT	0.438																																																	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)											143	114	124					X																	50659038		2203	4299	6502	SO:0001587	stop_gained	0			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.610C>T	X.37:g.50659038C>T	ENSP00000252677:p.Arg204*		Q17RM6|Q5JST1|Q9UMS1	Nonsense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.R204*	ENST00000252677.3	37	c.610	CCDS14334.1	X	.	.	.	.	.	.	.	.	.	.	c	10.74	1.435110	0.25813	.	.	ENSG00000130385	ENST00000252677	.	.	.	5.52	3.72	0.42706	.	0.992853	0.08201	N	0.982285	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	3.8331	0.08882	0.2037:0.6096:0.0:0.1867	.	.	.	.	X	204	.	ENSP00000252677:R204X	R	+	1	2	BMP15	50675778	0.000000	0.05858	0.029000	0.17559	0.009000	0.06853	0.433000	0.21477	1.082000	0.41137	0.556000	0.70494	CGA	BMP15	-	NULL	ENSG00000130385		0.438	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	HGNC	protein_coding	OTTHUMT00000056572.1	-	0	22	0	C	NM_005448		50659038	1	tier1	-	no_errors	ENST00000252677	ensembl	human	known	74_37	nonsense	32.14	19	9	SNP	0.009	T	T	50659038	C	T	50659038	4	4	153	1	0	0	0	0	0	1	0	0	1460	528	19	1	616	1	BMP15	23	50659038	Nonsense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	700343	50659038	104611522	219	39187											
FAM123B	139285	genome.wustl.edu	37	chrX	63410422	63410422	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcagctcatcagactcgagGtagccctggaccaagtggga	10	7	13	11	1	2	1	2	0	0	1	3	4	2	3	2	3	3	3	2	3	2	1			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chrX:63410422G>T	ENST00000330258.3	-	2	3017	c.2745C>A	c.(2743-2745)taC>taA	p.Y915*	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	915					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)									CAGACTCGAGGTAGCCCTGGA	0.577																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											50	48	49					X																	63410422		2034	4172	6206	SO:0001587	stop_gained	0			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.2745C>A	X.37:g.63410422G>T	ENSP00000329117:p.Tyr915*		A2IB86|Q8N885	Nonsense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.Y915*	ENST00000330258.3	37	c.2745	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	37	6.336459	0.97485	.	.	ENSG00000184675	ENST00000330258	.	.	.	4.79	-0.0521	0.13824	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6408	5.0288	0.14398	0.365:0.0:0.4955:0.1395	.	.	.	.	X	915	.	.	Y	-	3	2	FAM123B	63327147	0.000000	0.05858	0.019000	0.16419	0.345000	0.29048	0.138000	0.16016	-0.231000	0.09825	0.529000	0.55759	TAC	AMER1	-	NULL	ENSG00000184675		0.577	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER1	HGNC	protein_coding	OTTHUMT00000316584.1		0	30	0	G	NM_152424		63410422	-1			no_errors	ENST00000330258	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	0.000	T	T	63410422	G	T	63410422	4	4	153	1	0	0	0	0	0	1	0	0	5442	1256	44	3	666	3	FAM123B	23	63410422	Nonsense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	12751384	63410422	91860138	220	39188											
MID2	11043	genome.wustl.edu	37	chrX	107148759	107148759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctaattgccgccagtgtCttgaacggtcaacagtcctc	8	12	9	12	2	2	1	1	1	1	0	4	1	3	1	3	1	4	1	3	1	3	4			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chrX:107148759C>A	ENST00000262843.6	+	5	1524	c.976C>A	c.(976-978)Ctt>Att	p.L326I	MID2_ENST00000443968.2_Missense_Mutation_p.L326I|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	326					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CCGCCAGTGTCTTGAACGGTC	0.403																																																	0													159	140	146					X																	107148759		2203	4300	6503	SO:0001583	missense	0				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.976C>A	X.37:g.107148759C>A	ENSP00000262843:p.Leu326Ile		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L326I	ENST00000262843.6	37	c.976	CCDS14532.2	X	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869826	0.33069	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.67345	-0.23;-0.26	5.79	5.79	0.91817	B-box, C-terminal (1);	0.129706	0.53938	D	0.000049	T	0.49592	0.1566	N	0.11064	0.09	0.58432	D	0.999997	B;B	0.23058	0.079;0.016	B;B	0.23150	0.027;0.044	T	0.45205	-0.9277	10	0.32370	T	0.25	.	16.2334	0.82358	0.0:1.0:0.0:0.0	.	326;326	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	I	326	ENSP00000262843:L326I;ENSP00000413976:L326I	ENSP00000262843:L326I	L	+	1	0	MID2	107035415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.483000	0.35497	2.438000	0.82558	0.600000	0.82982	CTT	MID2	-	smart_Bbox_C	ENSG00000080561		0.403	MID2-001	KNOWN	basic|CCDS	protein_coding	MID2	HGNC	protein_coding	OTTHUMT00000057852.2		0	31	0	C	NM_012216		107148759	1			no_errors	ENST00000262843	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	A	A	107148759	C	A	107148759	3	1	153	1	0	0	0	0	1	0	0	0	9616	913	32	3	994	3	MID2	23	107148759	Missense_Mutation	SNP	C	TCGA-S8-A6BV-01A-21D-A31U-09	43738337	107148759	48121801	221	39189											
UBL4A	8266	genome.wustl.edu	37	chrX	153714147	153714147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccctgctggcatctgccGcactgaagtggcgggccaag	7	6	15	13	2	1	1	0	1	1	0	1	2	1	2	3	4	2	3	3	4	2	0			TCGA-S8-A6BV-01A-21D-A31U-09	TCGA-S8-A6BV-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68330017-cad8-4064-86c3-f414b8a9abf2	4f02c2c2-9922-41d1-9709-a96b47bf869f	g.chrX:153714147G>A	ENST00000369660.4	-	3	411	c.326C>T	c.(325-327)gCg>gTg	p.A109V	UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Missense_Mutation_p.A109V	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	109					cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)	p.A109V(1)		endometrium(5)|lung(1)|urinary_tract(1)	7	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)					GGCATCTGCCGCACTGAAGTG	0.622																																					Esophageal Squamous(74;88 1215 11149 34177 46777)												1	Substitution - Missense(1)	endometrium(1)											86	91	89					X																	153714147		2203	4300	6503	SO:0001583	missense	0			J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"ubiquitin-like 4"	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.326C>T	X.37:g.153714147G>A	ENSP00000358674:p.Ala109Val		Q5HY80	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.A109V	ENST00000369660.4	37	c.326	CCDS14754.1	X	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383184	0.42207	.	.	ENSG00000102178	ENST00000369660;ENST00000369653	T;T	0.46063	0.94;0.88	4.76	3.61	0.41365	.	0.379891	0.29046	N	0.013318	T	0.27419	0.0673	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15235	-1.0444	10	0.40728	T	0.16	-6.0642	4.5941	0.12322	0.1559:0.204:0.6401:0.0	.	109	P11441	UBL4A_HUMAN	V	109	ENSP00000358674:A109V;ENSP00000358667:A109V	ENSP00000358667:A109V	A	-	2	0	UBL4A	153367341	0.023000	0.18921	0.003000	0.11579	0.976000	0.68499	1.836000	0.39191	0.839000	0.34971	0.529000	0.55759	GCG	UBL4A	-	NULL	ENSG00000102178		0.622	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBL4A	HGNC	protein_coding	OTTHUMT00000037238.2	-	0	40	0	G	NM_014235		153714147	-1	tier1	-	no_errors	ENST00000369660	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.002	A	A	153714147	G	A	153714147	3	1	153	1	0	0	0	0	1	0	0	0	16936	1087	38	1	155	1	UBL4A	23	153714147	Missense_Mutation	SNP	G	TCGA-S8-A6BV-01A-21D-A31U-09	46565388	153714147	1556413	222	39190											
PHF13	148479	genome.wustl.edu	37	chr1	6681626	6681626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtctgccaaaagtgcCgggactccaagtttgacatc	9	12	10	10	1	1	1	0	1	1	0	3	2	2	2	3	1	2	2	3	1	3	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:6681626C>T	ENST00000377648.4	+	4	1214	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	278					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CCAAAAGTGCCGGGACTCCAA	0.577																																																	0													69	63	65					1																	6681626		2203	4300	6503	SO:0001583	missense	0			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"Zinc fingers, PHD-type"	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.832C>T	1.37:g.6681626C>T	ENSP00000366876:p.Arg278Trp		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.R278W	ENST00000377648.4	37	c.832	CCDS85.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718809	0.89205	.	.	ENSG00000116273	ENST00000377648	D	0.85339	-1.97	5.66	4.75	0.60458	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93729	0.7996	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94857	0.8018	10	0.87932	D	0	0.7979	13.616	0.62108	0.0:0.926:0.0:0.074	.	278	Q86YI8	PHF13_HUMAN	W	278	ENSP00000366876:R278W	ENSP00000366876:R278W	R	+	1	2	PHF13	6604213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.419000	0.59835	1.398000	0.46701	0.655000	0.94253	CGG	PHF13	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000116273		0.577	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	HGNC	protein_coding	OTTHUMT00000004201.1		0	51	0	C	NM_153812		6681626	1			no_errors	ENST00000377648	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	6681626	C	T	6681626	3	4	154	1	0	0	0	0	1	0	0	0	11863	643	23	1	846	1	PHF13	1	6681626	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09		6681626	242568995	1	39191											
RAP1GAP	5909	genome.wustl.edu	37	chr1	21934815	21934815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtagttcctcatagagcGtctccaggagggcggcccgc	6	9	14	12	3	2	1	1	0	1	1	4	2	3	2	3	3	1	2	3	3	2	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:21934815G>T	ENST00000374765.4	-	17	1387	c.1187C>A	c.(1186-1188)aCg>aAg	p.T396K	RAP1GAP_ENST00000542643.2_Missense_Mutation_p.T396K|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.T396K|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.T460K|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.T427K	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	396	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)	p.T396M(1)|p.T427M(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CTCATAGAGCGTCTCCAGGAG	0.652																																																	2	Substitution - Missense(2)	central_nervous_system(2)											55	52	53					1																	21934815		2203	4300	6503	SO:0001583	missense	0			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1187C>A	1.37:g.21934815G>T	ENSP00000363897:p.Thr396Lys		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom	p.T460K	ENST00000374765.4	37	c.1379	CCDS218.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632410	0.87660	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	4.9	4.9	0.64082	Rap/ran-GAP (2);	0.054932	0.64402	D	0.000001	D	0.91821	0.7412	L	0.56769	1.78	0.58432	D	0.999999	P;P;B;P	0.42757	0.637;0.789;0.03;0.789	B;B;B;B	0.34180	0.109;0.177;0.009;0.134	D	0.92858	0.6303	10	0.62326	D	0.03	-10.0834	15.5443	0.76081	0.0:0.0:1.0:0.0	.	396;396;426;396	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	K	460;427;396;396;426;396	ENSP00000290101:T460K;ENSP00000363893:T427K;ENSP00000441661:T396K;ENSP00000363897:T396K	ENSP00000290101:T460K	T	-	2	0	RAP1GAP	21807402	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	3.686000	0.54685	2.267000	0.75376	0.407000	0.27541	ACG	RAP1GAP	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000076864		0.652	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GAP	HGNC	protein_coding	OTTHUMT00000019759.2		0	30	0	G	NM_002885		21934815	-1			no_errors	ENST00000290101	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	21934815	G	T	21934815	3	4	154	1	0	0	0	0	1	0	0	0	13082	1145	40	2	918	2	RAP1GAP	1	21934815	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	15253189	21934815	227315806	2	39192											
LEPRE1	64175	genome.wustl.edu	37	chr1	43218270	43218270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgccgtccatcaccacccGctgggaaccattcaggagtt	9	8	9	15	3	2	0	2	0	0	0	3	2	3	2	5	2	2	2	5	2	2	3	rs147230023		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:43218270G>A	ENST00000296388.5	-	9	1462	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	LEPRE1_ENST00000397054.3_Missense_Mutation_p.R471W|LEPRE1_ENST00000236040.4_Missense_Mutation_p.R471W			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	471					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)	ATCACCACCCGCTGGGAACCA	0.532																																																	0									TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	104	87	93		1411,1411	3	1	1	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LEPRE1	NM_001146289.1,NM_022356.3	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	471/698,471/737	43218270	2,13004	2203	4300	6503	SO:0001583	missense	0			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.1411C>T	1.37:g.43218270G>A	ENSP00000296388:p.Arg471Trp		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R471W	ENST00000296388.5	37	c.1411	CCDS472.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.56|17.56	3.420101|3.420101	0.62622|0.62622	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000117385|ENSG00000117385	ENST00000447502|ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	.|T;T;T	.|0.78481	.|-1.18;-1.18;-1.18	4.96|4.96	2.99|2.99	0.34606|0.34606	.|Prolyl 4-hydroxylase, alpha subunit (1);	.|0.118143	.|0.56097	.|D	.|0.000022	D|D	0.87545|0.87545	0.6204|0.6204	M|M	0.85197|0.85197	2.74|2.74	0.50313|0.50313	D|D	0.999864|0.999864	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;0.999	D|D	0.87603|0.87603	0.2498|0.2498	5|10	.|0.87932	.|D	.|0	-27.7934|-27.7934	10.8372|10.8372	0.46694|0.46694	0.0:0.0:0.4686:0.5314|0.0:0.0:0.4686:0.5314	.|.	.|471;336;471	.|Q32P28-3;B4DNM8;Q32P28	.|.;.;P3H1_HUMAN	V|W	62|471;471;471;336	.|ENSP00000380245:R471W;ENSP00000236040:R471W;ENSP00000296388:R471W	.|ENSP00000236040:R471W	A|R	-|-	2|1	0|2	LEPRE1|LEPRE1	42990857|42990857	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.623000|0.623000	0.37688|0.37688	1.997000|1.997000	0.40786|0.40786	0.612000|0.612000	0.30071|0.30071	0.457000|0.457000	0.33378|0.33378	GCG|CGG	LEPRE1	-	smart_Pro_4_hyd_alph	ENSG00000117385		0.532	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	-	0	27	0	G	NM_022356		43218270	-1	tier1	rs147230023	no_errors	ENST00000236040	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	A	A	43218270	G	A	43218270	3	1	154	1	0	0	0	0	1	0	0	0	8757	1086	38	1	846	1	LEPRE1	1	43218270	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	21283455	43218270	206032351	3	39193											
CYP4Z1	199974	genome.wustl.edu	37	chr1	47534433	47534433	+	Missense_Mutation	SNP	A	A	G	1	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	caagattctcctgaaaagacAaggtaaaaaccaagaggggc	18	5	10	8	0	1	4	0	1	1	3	2	4	1	4	2	3	1	1	2	3	8	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:47534433A>G	ENST00000334194.3	+	2	320	c.317A>G	c.(316-318)cAa>cGa	p.Q106R		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	106						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						CTGAAAAGACAAGGTAAAAAC	0.478																																																	0													116	106	109					1																	47534433		2203	4300	6503	SO:0001583	missense	0			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.317A>G	1.37:g.47534433A>G	ENSP00000334246:p.Gln106Arg		Q5VVE4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.Q106R	ENST00000334194.3	37	c.317	CCDS545.1	1	.	.	.	.	.	.	.	.	.	.	A	9.171	1.021177	0.19433	.	.	ENSG00000186160	ENST00000334194	T	0.67865	-0.29	2.83	-0.933	0.10431	.	0.646126	0.12033	U	0.505764	T	0.42675	0.1213	N	0.13327	0.33	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25012	-1.0144	10	0.48119	T	0.1	.	4.647	0.12577	0.4641:0.3471:0.1887:0.0	.	106	Q86W10	CP4Z1_HUMAN	R	106	ENSP00000334246:Q106R	ENSP00000334246:Q106R	Q	+	2	0	CYP4Z1	47307020	0.980000	0.34600	0.208000	0.23602	0.092000	0.18411	-0.151000	0.10175	0.016000	0.14998	0.373000	0.22412	CAA	CYP4Z1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186160		0.478	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4Z1	HGNC	protein_coding	OTTHUMT00000022020.1	-	0	119	0	A	NM_178134		47534433	1	tier1	-	no_errors	ENST00000334194	ensembl	human	known	74_37	missense	5.26	90	5	SNP	0.447	G	G	47534433	A	G	47534433	3	3	154	1	0	0	0	0	1	0	0	0	4203	130	5	4	323	4	CYP4Z1	1	47534433	Missense_Mutation	SNP	A	TCGA-S8-A6BW-01A-11D-A31U-09	4316163	47534433	201716188	4	39194											
LEPR	3953	genome.wustl.edu	37	chr1	66067198	66067198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttggtggatgaatttagCtgagaaaattcctcaaagcc	12	13	10	6	0	1	2	1	2	0	1	2	4	2	3	2	2	2	2	2	2	5	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:66067198C>T	ENST00000349533.6	+	9	1303	c.1118C>T	c.(1117-1119)gCt>gTt	p.A373V	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.A373V|LEPR_ENST00000344610.8_Missense_Mutation_p.A373V|LEPR_ENST00000371058.1_Missense_Mutation_p.A373V|LEPR_ENST00000371059.3_Missense_Mutation_p.A373V|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGAATTTAGCTGAGAAAATT	0.358																																																	0													144	137	139					1																	66067198		2203	4300	6503	SO:0001583	missense	0			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.1118C>T	1.37:g.66067198C>T	ENSP00000330393:p.Ala373Val		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A373V	ENST00000349533.6	37	c.1118	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990012	0.74589	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	4.98	4.98	0.66077	Immunoglobulin-like (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	0.518641	0.23396	N	0.048640	D	0.84329	0.5448	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.991;0.956	D	0.85372	0.1114	10	0.62326	D	0.03	-22.0644	14.1024	0.65065	0.0:0.8497:0.1503:0.0	.	373;373;373	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	V	373	ENSP00000340884:A373V;ENSP00000330393:A373V;ENSP00000360099:A373V;ENSP00000360098:A373V;ENSP00000360097:A373V	ENSP00000340884:A373V	A	+	2	0	LEPR	65839786	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.034000	0.41145	2.582000	0.87167	0.655000	0.94253	GCT	LEPR	-	pfam_IgC2-like_lig-bd,pfscan_Ig-like_dom	ENSG00000116678		0.358	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	-	0	55	0	C	NM_002303		66067198	1	tier1	-	no_errors	ENST00000349533	ensembl	human	known	74_37	missense	66.67	14	28	SNP	1.000	T	T	66067198	C	T	66067198	3	4	154	1	0	0	0	0	1	0	0	0	8756	797	28	3	1144	3	LEPR	1	66067198	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	18532765	66067198	183183423	5	39195											
COL11A1	1301	genome.wustl.edu	37	chr1	103440440	103440440	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaggtccttgaggaccCtggaaataaaaagcagtggg	12	7	13	9	0	0	2	0	2	0	0	1	4	1	4	3	4	1	1	3	4	4	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:103440440C>A	ENST00000370096.3	-	36	3067		c.e36-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						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)	p.?(2)		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)		CTTGAGGACCCTGGAAATAAA	0.383																																																	2	Unknown(2)	lung(2)											53	61	58					1																	103440440		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2755-1G>T	1.37:g.103440440C>A			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	-	e36-1	ENST00000370096.3	37	c.2791-1	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025677	0.75390	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6337	0.88116	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103213028	1.000000	0.71417	0.993000	0.49108	0.788000	0.44548	7.124000	0.77185	2.503000	0.84419	0.585000	0.79938	.	COL11A1	-	-	ENSG00000060718		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0	26	0	C	NM_080630	Intron	103440440	-1			no_errors	ENST00000358392	ensembl	human	known	74_37	splice_site	7.14	26	2	SNP	1.000	A	A	103440440	C	A	103440440	5	1	154	1	0	0	0	0	0	0	1	0	3674	695	24	3	2794	3	COL11A1	1	103440440	Splice_Site	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	37373242	103440440	145810181	6	39196											
OVGP1	5016	genome.wustl.edu	37	chr1	111957458	111957458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtattctgtctaagggtCtcagtctgaaaatggacagg	11	12	11	7	0	4	1	1	1	4	0	5	2	4	2	0	3	0	1	0	3	4	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:111957458C>T	ENST00000369732.3	-	11	1720	c.1665G>A	c.(1663-1665)gaG>gaA	p.E555E		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	555					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)		GTCTAAGGGTCTCAGTCTGAA	0.547																																																	0													111	119	116					1																	111957458		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1665G>A	1.37:g.111957458C>T			A0AV19|B9EGE1|Q15841	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.E555	ENST00000369732.3	37	c.1665	CCDS834.1	1																																																																																			OVGP1	-	NULL	ENSG00000085465		0.547	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	-	0	39	0	C	NM_002557		111957458	-1	tier1	-	no_errors	ENST00000369732	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.015	T	T	111957458	C	T	111957458	2	4	154	1	0	0	0	0	0	0	0	1	11364	912	32	3		3	OVGP1	1	111957458	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	8517018	111957458	137293163	7	39197											
HDGF	3068	genome.wustl.edu	37	chr1	156714052	156714052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccttcctcgtcgctgctgCcctctgcattccccttctta	2	15	5	19	2	2	0	0	0	2	0	7	0	5	0	5	0	3	3	5	0	1	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:156714052C>T	ENST00000357325.5	-	4	706	c.392G>A	c.(391-393)gGc>gAc	p.G131D	HDGF_ENST00000537739.1_Missense_Mutation_p.G131D|HDGF_ENST00000368209.5_Missense_Mutation_p.G124D|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Missense_Mutation_p.G147D|HDGF_ENST00000416666.2_Missense_Mutation_p.G99D	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	131	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)		GTCGCTGCTGCCCTCTGCATT	0.562																																																	0													448	385	407					1																	156714052		2203	4300	6503	SO:0001583	missense	0			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.392G>A	1.37:g.156714052C>T	ENSP00000349878:p.Gly131Asp		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	pfam_PWWP_dom	p.G147D	ENST00000357325.5	37	c.440	CCDS1156.1	1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831486	0.71258	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.32988	1.84;1.46;1.84;1.48;1.43	5.13	5.13	0.70059	.	0.068469	0.64402	U	0.000019	T	0.44787	0.1310	M	0.68593	2.085	0.37302	D	0.908748	D;P;D;D;D	0.89917	0.997;0.665;0.997;0.994;1.0	P;B;P;P;D	0.74674	0.895;0.128;0.895;0.852;0.984	T	0.39187	-0.9626	10	0.44086	T	0.13	-8.2067	16.115	0.81301	0.0:1.0:0.0:0.0	.	106;131;147;124;131	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.;.;.;.;HDGF_HUMAN	D	131;124;131;99;147;154	ENSP00000349878:G131D;ENSP00000357192:G124D;ENSP00000443120:G131D;ENSP00000416752:G99D;ENSP00000357189:G147D	ENSP00000349878:G131D	G	-	2	0	HDGF	154980676	1.000000	0.71417	0.991000	0.47740	0.934000	0.57294	5.418000	0.66429	2.392000	0.81423	0.449000	0.29647	GGC	HDGF	-	NULL	ENSG00000143321		0.562	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	HGNC	protein_coding	OTTHUMT00000098946.1	-	0	48	0	C	NM_004494		156714052	-1	tier1	-	no_errors	ENST00000368206	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	156714052	C	T	156714052	3	4	154	1	0	0	0	0	1	0	0	0	7045	739	26	3	342	3	HDGF	1	156714052	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	44756594	156714052	92536569	8	39198											
IGSF8	93185	genome.wustl.edu	37	chr1	160062078	160062078	+	Missense_Mutation	SNP	T	T	C	0	1	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	ggggtgtcactcaccatgcaTgtaggggtagactgtaacag	10	9	14	8	0	2	1	2	0	0	1	2	1	2	1	1	4	2	4	1	4	3	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:160062078T>C	ENST00000368086.1	-	5	1936	c.1720A>G	c.(1720-1722)Atg>Gtg	p.M574V	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Missense_Mutation_p.M574V			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	574					cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCACCATGCATGTAGGGGTAG	0.627																																																	0													75	82	80					1																	160062078		2203	4300	6503	SO:0001583	missense	0			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1720A>G	1.37:g.160062078T>C	ENSP00000357065:p.Met574Val		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.M574V	ENST00000368086.1	37	c.1720	CCDS1195.1	1	.	.	.	.	.	.	.	.	.	.	T	7.931	0.740627	0.15642	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475	T;T	0.04758	3.56;3.56	3.16	3.16	0.36331	.	0.664307	0.13245	U	0.402566	T	0.00637	0.0021	N	0.08118	0	0.21064	N	0.999795	B	0.02656	0.0	B	0.06405	0.002	T	0.47058	-0.9146	10	0.10902	T	0.67	-0.1632	4.7413	0.13013	0.0:0.2678:0.0:0.7322	.	574	Q969P0	IGSF8_HUMAN	V	574;574;487	ENSP00000316664:M574V;ENSP00000357065:M574V	ENSP00000316664:M574V	M	-	1	0	IGSF8	158328702	0.942000	0.31987	1.000000	0.80357	0.830000	0.47004	1.507000	0.35758	1.049000	0.40321	0.334000	0.21626	ATG	IGSF8	-	NULL	ENSG00000162729		0.627	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF8	HGNC	protein_coding	OTTHUMT00000060636.1	-	0	26	0	T	NM_052868		160062078	-1	tier1	-	no_errors	ENST00000314485	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	C	C	160062078	T	C	160062078	3	2	154	1	0	0	0	0	1	0	0	0	7631	1464	51	4	129	4	IGSF8	1	160062078	Missense_Mutation	SNP	T	TCGA-S8-A6BW-01A-11D-A31U-09	3348026	160062078	89188543	9	39199											
NUF2	83540	genome.wustl.edu	37	chr1	163310159	163310159	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctttttcccttagatagtGctgcaagagggaaattccca	10	13	9	9	0	0	2	0	0	0	2	2	3	2	3	2	1	3	3	2	1	4	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:163310159G>T	ENST00000271452.3	+	9	891	c.612G>T	c.(610-612)gtG>gtT	p.V204V	NUF2_ENST00000524800.1_Silent_p.V204V|NUF2_ENST00000367900.3_Silent_p.V204V	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	204	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CTTAGATAGTGCTGCAAGAGG	0.318																																																	0													127	137	134					1																	163310159		2203	4298	6501	SO:0001819	synonymous_variant	0			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.612G>T	1.37:g.163310159G>T			Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	pfam_Kinetochore_Nuf2	p.C203F	ENST00000271452.3	37	c.608	CCDS1245.1	1																																																																																			NUF2	-	NULL	ENSG00000143228		0.318	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUF2	HGNC	protein_coding	OTTHUMT00000082812.1	-	0	53	0	G	NM_145697		163310159	1	tier1	-	no_errors	ENST00000497990	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.246	T	T	163310159	G	T	163310159	2	4	154	1	0	0	0	0	0	0	0	1	10786	1306	46	3		3	NUF2	1	163310159	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	3248081	163310159	85940462	10	39200											
FMO3	2328	genome.wustl.edu	37	chr1	171086308	171086308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaactctcctccttcattgGggcaaagcccaacatcccat	10	10	6	15	0	2	1	1	1	1	0	5	1	4	1	4	2	3	1	4	2	3	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:171086308G>T	ENST00000367755.4	+	9	1436	c.1325G>T	c.(1324-1326)gGg>gTg	p.G442V	FMO3_ENST00000538429.1_Missense_Mutation_p.G379V|FMO3_ENST00000392085.2_Missense_Mutation_p.G442V|FMO3_ENST00000542847.1_Missense_Mutation_p.G422V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	442					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)	TCCTTCATTGGGGCAAAGCCC	0.473																																																	0													106	101	103					1																	171086308		2203	4300	6503	SO:0001583	missense	0			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.1325G>T	1.37:g.171086308G>T	ENSP00000356729:p.Gly442Val		B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.G442V	ENST00000367755.4	37	c.1325	CCDS1292.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509729	0.85282	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.83492	0.5266	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.991;0.993	D	0.89531	0.3785	10	0.87932	D	0	-16.6308	18.6439	0.91404	0.0:0.0:1.0:0.0	.	379;422;442	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	V	442;442;422;379	ENSP00000356729:G442V;ENSP00000375935:G442V;ENSP00000444073:G422V;ENSP00000439500:G379V	ENSP00000356729:G442V	G	+	2	0	FMO3	169352932	1.000000	0.71417	0.958000	0.39756	0.884000	0.51177	9.864000	0.99589	2.464000	0.83262	0.655000	0.94253	GGG	FMO3	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_2	ENSG00000007933		0.473	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO3	HGNC	protein_coding	OTTHUMT00000086219.1		0	24	0	G	NM_006894		171086308	1			no_errors	ENST00000367755	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	171086308	G	T	171086308	3	4	154	1	0	0	0	0	1	0	0	0	5978	1232	43	3	1355	3	FMO3	1	171086308	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	7776149	171086308	78164313	11	39201											
CDC73	79577	genome.wustl.edu	37	chr1	193218912	193218912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctggatccaaatgttcaGaaatgggatgtaacagtatt	13	12	10	6	1	2	1	1	0	1	1	3	3	3	3	1	2	1	3	1	2	4	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:193218912G>T	ENST00000367435.3	+	16	1654	c.1470G>T	c.(1468-1470)caG>caT	p.Q490H	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	490	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						CAAATGTTCAGAAATGGGATG	0.368																																																	0													104	103	103					1																	193218912		2203	4300	6503	SO:0001583	missense	0			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.1470G>T	1.37:g.193218912G>T	ENSP00000356405:p.Gln490His		A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.Q490H	ENST00000367435.3	37	c.1470	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571031	0.65765	.	.	ENSG00000134371	ENST00000367435	T	0.64438	-0.1	5.53	2.64	0.31445	.	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	L	0.50333	1.59	0.58432	D	0.999996	D	0.64830	0.994	D	0.67103	0.949	T	0.65899	-0.6056	10	0.54805	T	0.06	-9.8959	8.5314	0.33337	0.2943:0.0:0.7057:0.0	.	490	Q6P1J9	CDC73_HUMAN	H	490	ENSP00000356405:Q490H	ENSP00000356405:Q490H	Q	+	3	2	CDC73	191485535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.474000	0.60203	0.285000	0.22329	0.591000	0.81541	CAG	CDC73	-	pfam_RNA_pol_access_fac_Cdc73	ENSG00000134371		0.368	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2		0	56	0	G	NM_024529		193218912	1			no_errors	ENST00000367435	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	193218912	G	T	193218912	3	4	154	1	0	0	0	0	1	0	0	0	3092	933	33	3	1532	3	CDC73	1	193218912	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	22132604	193218912	56031709	12	39202											
ESRRG	2104	genome.wustl.edu	37	chr1	216896593	216896593	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggtacctactcttcctCgtagtgcagggaaaaagatt	14	10	9	8	1	1	1	0	0	1	1	3	2	2	2	2	2	3	3	2	2	7	5	rs573749790		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:216896593C>A	ENST00000408911.3	-	1	202	c.49G>T	c.(49-51)Gag>Tag	p.E17*	ESRRG_ENST00000366937.1_5'UTR|ESRRG_ENST00000359162.2_Intron|ESRRG_ENST00000366940.2_Intron|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000391890.3_5'UTR|ESRRG_ENST00000487276.1_Intron|ESRRG_ENST00000361395.2_Intron|ESRRG_ENST00000493748.1_Intron|ESRRG_ENST00000366938.2_Intron|ESRRG_ENST00000361525.3_Intron|ESRRG_ENST00000360012.3_Intron|ESRRG_ENST00000493603.1_Intron	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	17					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)	TACTCTTCCTCGTAGTGCAGG	0.463																																																	0													94	91	92					1																	216896593		1885	4103	5988	SO:0001587	stop_gained	0			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.49G>T	1.37:g.216896593C>A	ENSP00000386171:p.Glu17*		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Nonsense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.E17*	ENST00000408911.3	37	c.49	CCDS41468.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.726800	0.98456	.	.	ENSG00000196482	ENST00000408911	.	.	.	5.45	5.45	0.79879	.	1.008970	0.07982	U	0.985729	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.869	0.92305	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000386171:E17X	E	-	1	0	ESRRG	214963216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.077000	0.76814	2.544000	0.85801	0.591000	0.81541	GAG	ESRRG	-	NULL	ENSG00000196482		0.463	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	-	0	34	0	C	NM_206595		216896593	-1	tier1	-	no_errors	ENST00000408911	ensembl	human	known	74_37	nonsense	34.21	25	13	SNP	1.000	A	A	216896593	C	A	216896593	4	1	154	1	0	0	0	0	0	1	0	0	5278	893	31	2	1355	2	ESRRG	1	216896593	Nonsense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	23677681	216896593	32354028	13	39203											
C1orf65	164127	genome.wustl.edu	37	chr1	223568089	223568089	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtccaggacaccaacctGagctccctcatcaattacca	13	7	6	15	0	2	1	2	1	0	0	4	2	4	2	5	2	3	1	5	2	4	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:223568089G>C	ENST00000366875.3	+	1	1375	c.1272G>C	c.(1270-1272)ctG>ctC	p.L424L		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		424										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		ACACCAACCTGAGCTCCCTCA	0.602																																																	0													40	33	36					1																	223568089		2203	4299	6502	SO:0001819	synonymous_variant	0																														ENST00000366875.3:c.1272G>C	1.37:g.223568089G>C			Q8N746|Q8NA93	Silent	SNP	NULL	p.L424	ENST00000366875.3	37	c.1272	CCDS1537.1	1																																																																																			C1orf65	-	NULL	ENSG00000178395		0.602	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf65	HGNC	protein_coding	OTTHUMT00000092718.1	-	0	9	0	G			223568089	1	tier1	-	no_errors	ENST00000366875	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.001	C	C	223568089	G	C	223568089	2	2	154	1	0	0	0	0	0	0	0	1	2062	1277	45	5		5	C1orf65	1	223568089	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	6671496	223568089	25682532	14	39204											
RYR2	6262	genome.wustl.edu	37	chr1	237991692	237991692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaccaggtctaattattGatgcttttggagaactaaga	14	13	8	6	0	1	3	0	1	1	2	1	4	1	3	1	2	3	1	1	2	5	7			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:237991692G>T	ENST00000366574.2	+	102	14919	c.14602G>T	c.(14602-14604)Gat>Tat	p.D4868Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D4852Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D4874Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4868					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)			TCTAATTATTGATGCTTTTGG	0.403																																																	0													88	86	87					1																	237991692		1841	4089	5930	SO:0001583	missense	0			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.14602G>T	1.37:g.237991692G>T	ENSP00000355533:p.Asp4868Tyr		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.D4874Y	ENST00000366574.2	37	c.14620	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317435	0.81469	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98947	-5.26;-5.24;-5.25	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000010	D	0.99477	0.9814	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.994;0.995	D	0.98358	1.0547	10	0.87932	D	0	-18.73	19.7167	0.96124	0.0:0.0:1.0:0.0	.	301;4868	F5H3C7;Q92736	.;RYR2_HUMAN	Y	4868;4874;4852;301	ENSP00000355533:D4868Y;ENSP00000353174:D4874Y;ENSP00000443798:D4852Y	ENSP00000353174:D4874Y	D	+	1	0	RYR2	236058315	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	9.813000	0.99286	2.667000	0.90743	0.655000	0.94253	GAT	RYR2	-	NULL	ENSG00000198626		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	48	0	G	NM_001035		237991692	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	237991692	G	T	237991692	3	4	154	1	0	0	0	0	1	0	0	0	13814	1290	45	3	15008	3	RYR2	1	237991692	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	14423603	237991692	11258929	15	39205											
GREB1	9687	genome.wustl.edu	37	chr2	11742612	11742612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accctttcaggacacagcctCcccttgctcagatacgatag	10	9	7	15	1	2	1	2	0	0	1	3	3	3	2	4	1	3	1	4	1	2	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:11742612C>T	ENST00000381486.2	+	17	2910	c.2610C>T	c.(2608-2610)ctC>ctT	p.L870L	GREB1_ENST00000234142.5_Silent_p.L870L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	870						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)		GACACAGCCTCCCCTTGCTCA	0.433																																					Ovarian(39;850 945 2785 23371 33093)												0													212	211	211					2																	11742612		1952	4164	6116	SO:0001819	synonymous_variant	0				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.2610C>T	2.37:g.11742612C>T			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	superfamily_P-loop_NTPase	p.L870	ENST00000381486.2	37	c.2610	CCDS42655.1	2																																																																																			GREB1	-	NULL	ENSG00000196208		0.433	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0	86	0	C	NM_014668		11742612	1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	silent	17.39	94	20	SNP	0.890	T	T	11742612	C	T	11742612	2	4	154	1	0	0	0	0	0	0	0	1	6787	842	30	3		3	GREB1	2	11742612	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09		11742612	231456761	16	39206											
SOS1	6654	genome.wustl.edu	37	chr2	39249845	39249845	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcaggctctgcaaatctaTaaacatcagcactaggcagc	14	8	8	11	0	4	0	2	0	2	0	4	0	4	0	0	2	4	4	0	2	5	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:39249845T>A	ENST00000426016.1	-	11	1810	c.1724A>T	c.(1723-1725)tAt>tTt	p.Y575F	SOS1_ENST00000395038.2_Missense_Mutation_p.Y575F|SOS1_ENST00000402219.2_Missense_Mutation_p.Y575F|SOS1_ENST00000472480.1_5'Flank			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	575					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)				TGCAAATCTATAAACATCAGC	0.403									Noonan syndrome																																								0													148	144	145					2																	39249845		2203	4300	6503	SO:0001583	missense	0	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.1724A>T	2.37:g.39249845T>A	ENSP00000387784:p.Tyr575Phe		A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Y575F	ENST00000426016.1	37	c.1724	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.223791	0.79576	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.29142	1.58;1.58;1.58	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.66921	-0.5801	10	0.62326	D	0.03	.	16.1027	0.81194	0.0:0.0:0.0:1.0	.	307;575	F5GX06;Q07889	.;SOS1_HUMAN	F	575;575;307;575;575	ENSP00000387784:Y575F;ENSP00000384675:Y575F;ENSP00000378479:Y575F	ENSP00000263879:Y575F	Y	-	2	0	SOS1	39103349	1.000000	0.71417	0.897000	0.35233	0.980000	0.70556	7.930000	0.87610	2.198000	0.70561	0.455000	0.32223	TAT	SOS1	-	superfamily_Ras_GEF_dom	ENSG00000115904		0.403	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3		0	39	0	T	NM_005633		39249845	-1			no_errors	ENST00000402219	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	A	A	39249845	T	A	39249845	3	1	154	1	0	0	0	0	1	0	0	0	14981	1406	49	5	2333	5	SOS1	2	39249845	Missense_Mutation	SNP	T	TCGA-S8-A6BW-01A-11D-A31U-09	27507233	39249845	203949528	17	39207											
PLEKHH2	130271	genome.wustl.edu	37	chr2	43971084	43971084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgcgttgttcactgacgatCcttctggcagagatttagag	8	14	11	8	2	2	3	1	1	1	2	3	5	3	3	1	1	1	3	1	1	1	6			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:43971084C>T	ENST00000282406.4	+	23	3621	c.3511C>T	c.(3511-3513)Cct>Tct	p.P1171S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1171	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)				CACTGACGATCCTTCTGGCAG	0.453																																																	0													127	116	120					2																	43971084		2203	4300	6503	SO:0001583	missense	0			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.3511C>T	2.37:g.43971084C>T	ENSP00000282406:p.Pro1171Ser		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.P1171S	ENST00000282406.4	37	c.3511	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034203	0.93575	.	.	ENSG00000152527	ENST00000282406	T	0.63580	-0.05	5.76	5.76	0.90799	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.72353	2.195	0.80722	D	1	D	0.67145	0.996	D	0.64410	0.925	T	0.78674	-0.2112	10	0.56958	D	0.05	-21.3064	19.9857	0.97347	0.0:1.0:0.0:0.0	.	1171	Q8IVE3	PKHH2_HUMAN	S	1171	ENSP00000282406:P1171S	ENSP00000282406:P1171S	P	+	1	0	PLEKHH2	43824588	1.000000	0.71417	0.806000	0.32338	0.946000	0.59487	7.487000	0.81328	2.706000	0.92434	0.655000	0.94253	CCT	PLEKHH2	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000152527		0.453	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1		0	13	0	C	NM_172069		43971084	1			no_errors	ENST00000282406	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	T	T	43971084	C	T	43971084	3	4	154	1	0	0	0	0	1	0	0	0	12116	855	30	3	3597	3	PLEKHH2	2	43971084	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	4721239	43971084	199228289	18	39208											
EHBP1	23301	genome.wustl.edu	37	chr2	63220713	63220713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattacaaaaaacaacagaaCgttttagaaatcctgttgtg	17	11	7	6	1	0	2	0	0	0	2	1	3	1	2	1	0	4	2	1	0	8	4	rs148087793	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:63220713C>T	ENST00000263991.5	+	19	3477	c.2995C>T	c.(2995-2997)Cgt>Tgt	p.R999C	EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000431489.1_Missense_Mutation_p.R928C|EHBP1_ENST00000405015.3_Missense_Mutation_p.R928C|EHBP1_ENST00000354487.3_Missense_Mutation_p.R964C|EHBP1_ENST00000405289.1_Missense_Mutation_p.R964C	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	999						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)			AACAACAGAACGTTTTAGAAA	0.368													C|||	10	0.00199681	0.0068	0	5008	,	,		13186	0		0	False		,,,				2504	0.001																0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	10,4396	16.8+/-37.8	0,10,2193	75	73	74		2890,2782,2782,2995	4.1	1	2	dbSNP_134	74	0,8596		0,0,4298	yes	missense,missense,missense,missense	EHBP1	NM_001142614.1,NM_001142615.2,NM_001142616.1,NM_015252.3	180,180,180,180	0,10,6491	TT,TC,CC		0.0,0.227,0.0769	probably-damaging,probably-damaging,probably-damaging,probably-damaging	964/1197,928/1161,928/1161,999/1232	63220713	10,12992	2203	4298	6501	SO:0001583	missense	0			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.2995C>T	2.37:g.63220713C>T	ENSP00000263991:p.Arg999Cys		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R999C	ENST00000263991.5	37	c.2995	CCDS1872.1	2	7|7	0.003205128205128205|0.003205128205128205	6|6	0.012195121951219513|0.012195121951219513	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	14.96|14.96	2.691877|2.691877	0.48097|0.48097	0.00227|0.00227	0.0|0.0	ENSG00000115504|ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289|ENST00000422032	T;T;T;T;T|.	0.75938|.	-0.89;-0.89;-0.95;-0.98;-0.98|.	5.92|5.92	4.07|4.07	0.47477|0.47477	.|.	0.121890|.	0.50627|.	D|.	0.000104|.	T|T	0.55625|0.55625	0.1932|0.1932	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.76494|.	0.999;0.994;0.998|.	P;P;P|.	0.61201|.	0.885;0.721;0.77|.	T|T	0.57177|0.57177	-0.7856|-0.7856	10|5	0.66056|.	D|.	0.02|.	.|.	13.0876|13.0876	0.59151|0.59151	0.1288:0.7477:0.1236:0.0|0.1288:0.7477:0.1236:0.0	.|.	964;928;999|.	Q8NDI1-2;Q8NDI1-3;Q8NDI1|.	.;.;EHBP1_HUMAN|.	C|M	928;928;999;964;964|158	ENSP00000384143:R928C;ENSP00000403783:R928C;ENSP00000263991:R999C;ENSP00000346482:R964C;ENSP00000385524:R964C|.	ENSP00000263991:R999C|.	R|T	+|+	1|2	0|0	EHBP1|EHBP1	63074217|63074217	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.807000|3.807000	0.55591|0.55591	0.784000|0.784000	0.33661|0.33661	0.650000|0.650000	0.86243|0.86243	CGT|ACG	EHBP1	-	NULL	ENSG00000115504		0.368	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1		0	11	0	C	NM_015252		63220713	1			no_errors	ENST00000263991	ensembl	human	known	74_37	missense	12.50	14	2	SNP	1.000	T	T	63220713	C	T	63220713	3	4	154	1	0	0	0	0	1	0	0	0	4989	536	19	1	3065	1	EHBP1	2	63220713	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	19249629	63220713	179978660	19	39209											
ZNF638	27332	genome.wustl.edu	37	chr2	71635285	71635285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatagtcctgaatctgctCagtcaatgtatagctttctg	10	15	8	8	0	4	2	2	1	2	1	5	2	5	2	1	0	2	3	1	0	6	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:71635285C>A	ENST00000409544.1	+	20	3799	c.3169C>A	c.(3169-3171)Cag>Aag	p.Q1057K	ZNF638_ENST00000355812.3_Missense_Mutation_p.Q1057K|ZNF638_ENST00000264447.4_Missense_Mutation_p.Q1057K|ZNF638_ENST00000409407.1_5'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1057					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						TGAATCTGCTCAGTCAATGTA	0.318																																																	0													110	113	112					2																	71635285		2203	4300	6503	SO:0001583	missense	0			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.3169C>A	2.37:g.71635285C>A	ENSP00000386433:p.Gln1057Lys		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.Q1057K	ENST00000409544.1	37	c.3169	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	C	4.474	0.087844	0.08583	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.54279	0.58;1.64;1.64	5.05	4.09	0.47781	.	0.463335	0.19037	N	0.124387	T	0.33673	0.0871	L	0.29908	0.895	0.80722	D	1	P;P;B;B	0.40794	0.61;0.729;0.087;0.435	B;B;B;B	0.35278	0.138;0.199;0.026;0.078	T	0.05131	-1.0904	10	0.13853	T	0.58	-0.5194	10.1292	0.42669	0.3001:0.6998:0.0:0.0	.	1057;1057;1057;1057	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	K	636;1057;1057;1057	ENSP00000348066:Q1057K;ENSP00000264447:Q1057K;ENSP00000386433:Q1057K	ENSP00000264447:Q1057K	Q	+	1	0	ZNF638	71488793	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.385000	0.44371	2.737000	0.93849	0.585000	0.79938	CAG	ZNF638	-	NULL	ENSG00000075292		0.318	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	-	0	45	0	C	NM_014497		71635285	1	tier1	-	no_errors	ENST00000264447	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A	A	71635285	C	A	71635285	3	1	154	1	0	0	0	0	1	0	0	0	18103	827	29	3	3243	3	ZNF638	2	71635285	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	8414572	71635285	171564088	20	39210											
TET3	200424	genome.wustl.edu	37	chr2	74327953	74327953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagccaggctgttccCacagacgcccaccaccccac	8	4	7	22	1	0	1	0	0	0	1	1	1	1	1	7	1	2	2	7	1	0	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:74327953C>T	ENST00000409262.3	+	9	3633	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1211					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						AGGCTGTTCCCACAGACGCCC	0.632																																																	0													20	23	22					2																	74327953		2077	4210	6287	SO:0001819	synonymous_variant	0				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.3633C>T	2.37:g.74327953C>T			A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	NULL	p.P1211	ENST00000409262.3	37	c.3633	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.632	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4		0	20	0	C			74327953	1			no_errors	ENST00000409262	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.780	T	T	74327953	C	T	74327953	2	4	154	1	0	0	0	0	0	0	0	1	15818	581	21	3		3	TET3	2	74327953	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	2692668	74327953	168871420	21	39211											
HK2	3099	genome.wustl.edu	37	chr2	75115128	75115128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcttccgaggccgcatctCagagcggctcaagacaaggg	10	6	12	13	3	3	2	2	0	2	2	5	3	4	2	2	3	1	2	2	3	2	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:75115128C>T	ENST00000290573.2	+	16	2918	c.2318C>T	c.(2317-2319)tCa>tTa	p.S773L	HK2_ENST00000409174.1_Missense_Mutation_p.S745L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	773	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGCCGCATCTCAGAGCGGCTC	0.507																																																	0													130	119	123					2																	75115128		2203	4300	6503	SO:0001583	missense	0				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2318C>T	2.37:g.75115128C>T	ENSP00000290573:p.Ser773Leu		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.S773L	ENST00000290573.2	37	c.2318	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996286	0.93167	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98028	-4.67;-4.67	4.72	4.72	0.59763	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	M	0.72479	2.2	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	D	0.98991	1.0808	10	0.87932	D	0	-4.4099	15.5668	0.76300	0.0:1.0:0.0:0.0	.	773	P52789	HXK2_HUMAN	L	773;773;745	ENSP00000290573:S773L;ENSP00000387140:S745L	ENSP00000290573:S773L	S	+	2	0	HK2	74968636	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.602000	0.82796	2.623000	0.88846	0.555000	0.69702	TCA	HK2	-	pfam_Hexokinase_C	ENSG00000159399		0.507	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	-	0	34	0	C	NM_000189		75115128	1	tier1	-	no_errors	ENST00000290573	ensembl	human	known	74_37	missense	44.12	19	15	SNP	1.000	T	T	75115128	C	T	75115128	3	4	154	1	0	0	0	0	1	0	0	0	7218	838	29	3	2380	3	HK2	2	75115128	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	787175	75115128	168084245	22	39212											
MRPL19	9801	genome.wustl.edu	37	chr2	75881943	75881943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaaacggctggatgataGcttgctatacttacgagatg	13	10	12	6	2	0	3	0	1	0	2	0	6	0	4	0	2	5	3	0	2	5	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:75881943G>A	ENST00000393909.2	+	5	582	c.557G>A	c.(556-558)aGc>aAc	p.S186N	MRPL19_ENST00000409374.1_Missense_Mutation_p.S186N|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	186					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						CTGGATGATAGCTTGCTATAC	0.398																																																	0													138	127	131					2																	75881943		1870	4099	5969	SO:0001583	missense	0			AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"Mitochondrial ribosomal proteins / large subunits"	14052	protein-coding gene	gene with protein product	"39S ribosomal protein L19"	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.557G>A	2.37:g.75881943G>A	ENSP00000377486:p.Ser186Asn		Q53TX9|Q96Q52	Missense_Mutation	SNP	pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19	p.S186N	ENST00000393909.2	37	c.557	CCDS1960.2	2	.	.	.	.	.	.	.	.	.	.	G	2.677	-0.276251	0.05679	.	.	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.18	1.82	0.25136	Translation protein SH3-like (1);	0.120246	0.85682	N	0.000000	T	0.10766	0.0263	N	0.00215	-1.835	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.05468	-1.0883	9	0.13108	T	0.6	-6.1463	6.0394	0.19726	0.4323:0.0:0.5677:0.0	.	186	P49406	RM19_HUMAN	N	186	.	ENSP00000377486:S186N	S	+	2	0	MRPL19	75735451	1.000000	0.71417	0.238000	0.24106	0.833000	0.47200	5.123000	0.64703	0.666000	0.31087	0.563000	0.77884	AGC	MRPL19	-	pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like	ENSG00000115364		0.398	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL19	HGNC	protein_coding	OTTHUMT00000252256.1	-	0	42	0	G	NM_014763		75881943	1	tier1	-	no_errors	ENST00000393909	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.996	A	A	75881943	G	A	75881943	3	1	154	1	0	0	0	0	1	0	0	0	9822	971	34	3	575	3	MRPL19	2	75881943	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	766815	75881943	167317430	23	39213											
GCC2	9648	genome.wustl.edu	37	chr2	109092295	109092295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagatctcattcaaggagcaGaaagctataaggtaaaaaat	19	8	9	5	0	2	2	2	0	1	2	3	4	2	3	0	2	2	3	0	2	7	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:109092295G>A	ENST00000309863.6	+	9	3763	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1017					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						TCAAGGAGCAGAAAGCTATAA	0.318																																																	0													37	41	40					2																	109092295		2202	4297	6499	SO:0001583	missense	0			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.3049G>A	2.37:g.109092295G>A	ENSP00000307939:p.Glu1017Lys		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.E1017K	ENST00000309863.6	37	c.3049	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.290200	0.95546	.	.	ENSG00000135968	ENST00000309863	T	0.35973	1.28	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	M	0.67953	2.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.49652	-0.8917	10	0.26408	T	0.33	.	20.179	0.98193	0.0:0.0:1.0:0.0	.	1017	Q8IWJ2	GCC2_HUMAN	K	1017	ENSP00000307939:E1017K	ENSP00000307939:E1017K	E	+	1	0	GCC2	108458727	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.245000	0.89825	2.847000	0.97988	0.655000	0.94253	GAA	GCC2	-	NULL	ENSG00000135968		0.318	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	-	0	31	0	G	NM_014635		109092295	1	tier1	-	no_errors	ENST00000309863	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	A	A	109092295	G	A	109092295	3	1	154	1	0	0	0	0	1	0	0	0	6311	943	33	3	3083	3	GCC2	2	109092295	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	33210352	109092295	134107078	24	39214											
WDR33	55339	genome.wustl.edu	37	chr2	128520663	128520663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattctttcctcatggcaacGaagaaagtcccagattctaa	14	11	6	10	1	3	2	1	0	2	2	5	3	5	2	2	1	1	1	2	1	5	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:128520663G>A	ENST00000322313.4	-	7	855	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	WDR33_ENST00000393006.1_Missense_Mutation_p.R233C|WDR33_ENST00000409658.3_3'UTR	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	233					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)		TCATGGCAACGAAGAAAGTCC	0.403																																																	0													124	116	119					2																	128520663		2203	4300	6503	SO:0001583	missense	0				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.697C>T	2.37:g.128520663G>A	ENSP00000325377:p.Arg233Cys		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R233C	ENST00000322313.4	37	c.697	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216664	0.58452	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006	T;D;T	0.81739	4.97;-1.53;4.97	5.91	5.91	0.95273	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	0.88119	0.6351	L	0.52011	1.625	0.80722	D	1	B;D	0.89917	0.267;1.0	B;D	0.77557	0.033;0.99	D	0.88058	0.2792	10	0.87932	D	0	-12.8239	20.3552	0.98837	0.0:0.0:1.0:0.0	.	233;233	Q6NUQ0;Q9C0J8	.;WDR33_HUMAN	C	233;155;233	ENSP00000325377:R233C;ENSP00000397547:R155C;ENSP00000376730:R233C	ENSP00000325377:R233C	R	-	1	0	WDR33	128237133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.865000	0.99609	2.812000	0.96745	0.558000	0.71614	CGT	WDR33	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000136709		0.403	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2		0	21	0	G	NM_018383		128520663	-1			no_errors	ENST00000322313	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	A	A	128520663	G	A	128520663	3	1	154	1	0	0	0	0	1	0	0	0	17336	1058	37	1	3431	1	WDR33	2	128520663	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	19428368	128520663	114678710	25	39215											
SPOPL	339745	genome.wustl.edu	37	chr2	139326574	139326574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcaccctcatttagtagCagaagcctttcgagcactag	10	11	8	12	1	2	1	2	0	1	1	4	2	2	1	2	0	3	3	2	0	4	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:139326574C>A	ENST00000280098.4	+	11	1482	c.1103C>A	c.(1102-1104)gCa>gAa	p.A368E	AC092620.2_ENST00000458007.2_RNA	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	368					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)		CATTTAGTAGCAGAAGCCTTT	0.408																																																	0													256	259	258					2																	139326574		2203	4300	6503	SO:0001583	missense	0				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.1103C>A	2.37:g.139326574C>A	ENSP00000280098:p.Ala368Glu			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.A368E	ENST00000280098.4	37	c.1103	CCDS33298.1	2	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029587	0.54790	.	.	ENSG00000144228	ENST00000280098	T	0.70631	-0.5	5.97	5.97	0.96955	.	0.095697	0.64402	D	0.000001	T	0.62307	0.2417	L	0.29908	0.895	0.80722	D	1	B	0.14012	0.009	B	0.13407	0.009	T	0.54695	-0.8255	9	.	.	.	0.2828	20.428	0.99075	0.0:1.0:0.0:0.0	.	368	Q6IQ16	SPOPL_HUMAN	E	368	ENSP00000280098:A368E	.	A	+	2	0	SPOPL	139043044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	GCA	SPOPL	-	NULL	ENSG00000144228		0.408	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1		0	42	0	C			139326574	1			no_errors	ENST00000280098	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	139326574	C	A	139326574	3	1	154	1	0	0	0	0	1	0	0	0	15132	710	25	3	1141	3	SPOPL	2	139326574	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	10805911	139326574	103872799	26	39216											
TANC1	85461	genome.wustl.edu	37	chr2	160087164	160087165	+	Frame_Shift_Ins	INS	-	-	GC																															gagcaatcctccaagccgcaINSgctggcactgtccggcacca																								rs373480339		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:160087164_160087165insGC	ENST00000263635.6	+	27	5464_5465	c.5227_5228insGC	c.(5227-5229)agcfs	p.S1743fs	TANC1_ENST00000454300.1_Frame_Shift_Ins_p.S1637fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1743					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						TCCAAGCCGCAGCTGGCACTGT	0.584																																																	0																																										SO:0001589	frameshift_variant	0			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.5228_5229dupGC	2.37:g.160087165_160087166dupGC	ENSP00000263635:p.Ser1743fs		C9JD88|Q49AI8	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.W1744fs	ENST00000263635.6	37	c.5227_5228	CCDS42766.1	2																																																																																			TANC1	-	NULL	ENSG00000115183		0.584	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1		0	25	0	-			160087165	1	tier1		no_errors	ENST00000263635	ensembl	human	known	74_37	frame_shift_ins	12.90	27	4	INS	0.129:0.681	GC	GC	160087165	-	GC	160087164	7	5	154	1	0	1	1	0	0	0	0	0	15591	188	7	0	5330	0	TANC1	2	160087164	Frame_Shift_Ins	INS	-	TCGA-S8-A6BW-01A-11D-A31U-09	20760590	160087164	83112209	27	39217											
LRP2	4036	genome.wustl.edu	37	chr2	170096091	170096091	+	Missense_Mutation	SNP	A	A	T	1	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	catgtagcctgtatcacacgAgcaccggaaagaacctctca	13	7	8	13	2	2	1	2	0	1	1	3	3	2	2	3	1	3	3	3	1	4	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:170096091A>T	ENST00000263816.3	-	26	4525	c.4240T>A	c.(4240-4242)Tcg>Acg	p.S1414T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1414	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)"	GTATCACACGAGCACCGGAAA	0.438																																																	0													142	131	134					2																	170096091		2203	4300	6503	SO:0001583	missense	0				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.4240T>A	2.37:g.170096091A>T	ENSP00000263816:p.Ser1414Thr		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.S1414T	ENST00000263816.3	37	c.4240	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	7.416	0.635658	0.14322	.	.	ENSG00000081479	ENST00000263816	D	0.87966	-2.32	5.54	1.63	0.23807	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.562501	0.20378	N	0.093516	T	0.71178	0.3309	N	0.13043	0.29	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.55068	-0.8198	10	0.08837	T	0.75	.	8.5054	0.33184	0.619:0.2621:0.0:0.1189	.	1414	P98164	LRP2_HUMAN	T	1414	ENSP00000263816:S1414T	ENSP00000263816:S1414T	S	-	1	0	LRP2	169804337	1.000000	0.71417	0.768000	0.31515	0.247000	0.25773	2.377000	0.44300	0.034000	0.15491	-0.264000	0.10439	TCG	LRP2	-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000081479		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	40	0	A	NM_004525		170096091	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	67.80	19	40	SNP	1.000	T	T	170096091	A	T	170096091	3	4	154	1	0	0	0	0	1	0	0	0	8991	304	11	5	9943	5	LRP2	2	170096091	Missense_Mutation	SNP	A	TCGA-S8-A6BW-01A-11D-A31U-09	10008927	170096091	73103282	28	39218											
TTN	7273	genome.wustl.edu	37	chr2	179393123	179393123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagtatacatttctggagCggcttatgctgacatttgaa	10	13	12	6	1	1	2	0	2	1	0	1	4	1	4	0	3	3	3	0	3	4	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:179393123C>T	ENST00000591111.1	-	311	102556	c.102332G>A	c.(102331-102333)cGc>cAc	p.R34111H	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26879H|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R26687H|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26812H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R35752H|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R33184H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34111	Ig-like 151.|Ser-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R33184H(1)|p.R26687H(1)|p.R26812H(1)|p.R26879H(1)|p.R33182H(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)			ATTTCTGGAGCGGCTTATGCT	0.378																																																	5	Substitution - Missense(5)	lung(5)											97	87	90					2																	179393123		1849	4104	5953	SO:0001583	missense	0			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.102332G>A	2.37:g.179393123C>T	ENSP00000465570:p.Arg34111His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R33184H	ENST00000591111.1	37	c.99551		2	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993925	0.35131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.25	5.25	0.73442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74298	0.3698	L	0.28400	0.85	0.35257	D	0.779215	D;D;D;D;D	0.89917	0.998;0.998;0.998;0.999;1.0	D;D;D;D;D	0.68765	0.928;0.928;0.928;0.96;0.925	T	0.81134	-0.1071	9	0.87932	D	0	.	19.2035	0.93720	0.0:1.0:0.0:0.0	.	26687;26812;26879;34111;33184	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	H	33184;26687;26879;26812;26684	ENSP00000343764:R33184H;ENSP00000434586:R26687H;ENSP00000340554:R26879H;ENSP00000352154:R26812H	ENSP00000340554:R26879H	R	-	2	0	TTN	179101369	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	3.861000	0.56002	2.603000	0.88011	0.555000	0.69702	CGC	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	15	0	C	NM_133378		179393123	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	179393123	C	T	179393123	3	4	154	1	0	0	0	0	1	0	0	0	16784	768	27	1	732	1	TTN	2	179393123	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	9297032	179393123	63806250	29	39219											
TTN	7273	genome.wustl.edu	37	chr2	179399177	179399177	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcgagatttcctctctttCactaacaaccggtcaacaaa	13	11	5	12	2	3	1	2	0	1	1	5	2	4	1	2	1	4	0	2	1	4	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:179399177C>G	ENST00000591111.1	-	308	97466	c.97242G>C	c.(97240-97242)gtG>gtC	p.V32414V	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V25182V|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.V24990V|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Silent_p.V25115V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000589042.1_Silent_p.V34055V|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Silent_p.V31487V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			TCCTCTCTTTCACTAACAACC	0.398																																																	0													131	132	132					2																	179399177		1928	4126	6054	SO:0001819	synonymous_variant	0			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.97242G>C	2.37:g.179399177C>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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V31487	ENST00000591111.1	37	c.94461		2																																																																																			TTN	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	19	0	C	NM_133378		179399177	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	26.92	19	7	SNP	1.000	G	G	179399177	C	G	179399177	2	3	154	1	0	0	0	0	0	0	0	1	16784	813	29	5		5	TTN	2	179399177	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	6054	179399177	63800196	30	39220											
TTN	7273	genome.wustl.edu	37	chr2	179459077	179459077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtagacacatacccagctCatccttgcaagtaattggtt	12	12	7	10	0	1	1	1	0	0	1	2	1	2	1	2	1	3	5	2	1	5	7			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:179459077C>T	ENST00000591111.1	-	246	53445	c.53221G>A	c.(53221-53223)Gag>Aag	p.E17741K	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10509K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10317K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10442K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E19382K|TTN_ENST00000342992.6_Missense_Mutation_p.E16814K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17741	Fibronectin type-III 28. {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)			ATACCCAGCTCATCCTTGCAA	0.353																																																	0													92	90	91					2																	179459077		1914	4139	6053	SO:0001583	missense	0			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.53221G>A	2.37:g.179459077C>T	ENSP00000465570:p.Glu17741Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E16814K	ENST00000591111.1	37	c.50440		2	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876369	0.72180	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44307	0.1287	L	0.31926	0.97	0.80722	D	1	B;B;B;B	0.27791	0.189;0.189;0.189;0.189	B;B;B;B	0.27608	0.044;0.044;0.081;0.081	T	0.33137	-0.9880	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	10317;10442;10509;17741	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	16814;10317;10509;10442;10315	ENSP00000343764:E16814K;ENSP00000434586:E10317K;ENSP00000340554:E10509K;ENSP00000352154:E10442K	ENSP00000340554:E10509K	E	-	1	0	TTN	179167323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.967000	0.70403	2.941000	0.99782	0.655000	0.94253	GAG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.353	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	44	0	C	NM_133378		179459077	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	16.90	59	12	SNP	1.000	T	T	179459077	C	T	179459077	3	4	154	1	0	0	0	0	1	0	0	0	16784	835	29	3	50103	3	TTN	2	179459077	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	59900	179459077	63740296	31	39221											
ZNF804A	91752	genome.wustl.edu	37	chr2	185803049	185803049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctttgccattatgaactgGctgaggcccttccacaagga	10	11	9	11	0	1	2	0	2	1	0	2	3	2	3	3	3	2	1	3	3	3	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:185803049G>T	ENST00000302277.6	+	4	3520	c.2926G>T	c.(2926-2928)Gct>Tct	p.A976S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	976							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATGAACTGGCTGAGGCCCT	0.388																																																	0													99	95	96					2																	185803049		2203	4300	6503	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2926G>T	2.37:g.185803049G>T	ENSP00000303252:p.Ala976Ser		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.A976S	ENST00000302277.6	37	c.2926	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249293	0.39797	.	.	ENSG00000170396	ENST00000302277	T	0.10668	2.85	5.14	3.34	0.38264	.	0.118997	0.37623	N	0.002015	T	0.15349	0.0370	L	0.57536	1.79	0.29101	N	0.881454	P	0.52061	0.95	P	0.47981	0.563	T	0.04268	-1.0964	10	0.62326	D	0.03	-10.7369	8.7898	0.34843	0.173:0.0:0.827:0.0	.	976	Q7Z570	Z804A_HUMAN	S	976	ENSP00000303252:A976S	ENSP00000303252:A976S	A	+	1	0	ZNF804A	185511294	1.000000	0.71417	0.996000	0.52242	0.456000	0.32438	2.165000	0.42396	0.563000	0.29222	-0.373000	0.07131	GCT	ZNF804A	-	NULL	ENSG00000170396		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	24	0	G	NM_194250		185803049	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.998	T	T	185803049	G	T	185803049	3	4	154	1	0	0	0	0	1	0	0	0	18218	1203	42	3	2940	3	ZNF804A	2	185803049	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	6343972	185803049	57396324	32	39222											
FSIP2	401024	genome.wustl.edu	37	chr2	186671724	186671724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacctatgcataaaatgatGagaaaaccttcttcagataa	17	10	5	9	0	2	3	1	2	1	2	2	4	2	3	3	0	2	1	3	0	6	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:186671724G>A	ENST00000424728.1	+	17	17691	c.17691G>A	c.(17689-17691)atG>atA	p.M5897I	FSIP2_ENST00000343098.5_Missense_Mutation_p.M5986I			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5897										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATAAAATGATGAGAAAACCTT	0.343																																																	0													59	57	58					2																	186671724		1850	4098	5948	SO:0001583	missense	0			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.17691G>A	2.37:g.186671724G>A	ENSP00000401306:p.Met5897Ile		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.M5986I	ENST00000424728.1	37	c.17958		2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.786440	0.00628	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.39229	1.09;1.09	4.1	-0.0193	0.13960	.	1.927100	0.02751	N	0.117469	T	0.19685	0.0473	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.07102	-1.0790	8	0.27082	T	0.32	.	1.4279	0.02327	0.1724:0.1023:0.1814:0.5439	.	.	.	.	I	5986;5897	ENSP00000344403:M5986I;ENSP00000401306:M5897I	ENSP00000344403:M5986I	M	+	3	0	FSIP2	186379969	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.130000	0.15850	-0.141000	0.11374	-2.115000	0.00351	ATG	FSIP2	-	NULL	ENSG00000188738		0.343	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	21	0	G	NM_173651		186671724	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.000	A	A	186671724	G	A	186671724	3	1	154	1	0	0	0	0	1	0	0	0	6099	1290	45	3	18024	3	FSIP2	2	186671724	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	868675	186671724	56527649	33	39223											
CLK1	1195	genome.wustl.edu	37	chr2	201719347	201719347	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaaaacgtacctggttttCtgtatcatatgttttggtag	9	18	8	6	1	2	0	1	0	1	0	2	0	2	0	1	2	2	5	1	2	6	9			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:201719347C>G	ENST00000321356.4	-	11	1347	c.1212G>C	c.(1210-1212)caG>caC	p.Q404H	CLK1_ENST00000409769.2_Missense_Mutation_p.Q227H|CLK1_ENST00000434813.2_Missense_Mutation_p.Q446H	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	404	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						ACCTGGTTTTCTGTATCATAT	0.333																																																	0													190	196	194					2																	201719347		2203	4300	6503	SO:0001583	missense	0			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.1212G>C	2.37:g.201719347C>G	ENSP00000326830:p.Gln404His		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q404H	ENST00000321356.4	37	c.1212	CCDS2331.1	2	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651048	0.29336	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.66460	-0.21;-0.21;-0.21	5.53	3.73	0.42828	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.158228	0.64402	D	0.000019	T	0.63954	0.2555	L	0.49778	1.585	0.49798	D	0.999827	B;B;B;B	0.31435	0.0;0.001;0.0;0.323	B;B;B;B	0.39876	0.017;0.006;0.006;0.312	T	0.58487	-0.7628	10	0.30078	T	0.28	.	11.8855	0.52600	0.0:0.8565:0.0:0.1435	.	446;374;404;227	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	H	404;374;227;446	ENSP00000326830:Q404H;ENSP00000386358:Q227H;ENSP00000394734:Q446H	ENSP00000326830:Q404H	Q	-	3	2	CLK1	201427592	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.514000	0.35834	0.810000	0.34279	0.563000	0.77884	CAG	CLK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000013441		0.333	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	-	0	47	0	C			201719347	-1	tier1	-	no_errors	ENST00000321356	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	G	G	201719347	C	G	201719347	3	3	154	1	0	0	0	0	1	0	0	0	3543	912	32	5	254	5	CLK1	2	201719347	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	15047623	201719347	41480026	34	39224											
SCAP	22937	genome.wustl.edu	37	chr3	47462508	47462508	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagccccacgacagcaaaGagacagaactcctggaatca	16	3	8	14	1	1	2	1	0	0	2	2	5	2	3	4	1	3	1	4	1	3	0			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:47462508G>A	ENST00000265565.5	-	11	1669	c.1257C>T	c.(1255-1257)ctC>ctT	p.L419L	SCAP_ENST00000545718.1_Silent_p.L27L|SCAP_ENST00000441517.2_Silent_p.L164L|SCAP_ENST00000465628.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	419	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				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)		CGACAGCAAAGAGACAGAACT	0.572											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													113	105	108					3																	47462508		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1257C>T	3.37:g.47462508G>A		947	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	NULL	p.L158F	ENST00000265565.5	37	c.472	CCDS2755.2	3																																																																																			SCAP	-	NULL	ENSG00000114650		0.572	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	-	0	17	0	G	NM_012235		47462508	-1	tier1	-	no_errors	ENST00000320017	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	A	A	47462508	G	A	47462508	2	1	154	1	0	0	0	0	0	0	0	1	13922	929	33	3		3	SCAP	3	47462508	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09		47462508	150559922	35	39225											
BOC	91653	genome.wustl.edu	37	chr3	112998245	112998245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtgggagactggattctgGccaccagcgccatcccccca	9	6	11	15	1	1	1	0	0	1	1	2	3	2	2	6	3	1	0	6	3	1	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:112998245G>T	ENST00000495514.1	+	12	2667	c.1963G>T	c.(1963-1965)Gcc>Tcc	p.A655S	BOC_ENST00000355385.3_Missense_Mutation_p.A655S|BOC_ENST00000273395.4_Missense_Mutation_p.A656S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	655	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTGGATTCTGGCCACCAGCGC	0.607																																																	0													62	68	66					3																	112998245		2203	4300	6503	SO:0001583	missense	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1963G>T	3.37:g.112998245G>T	ENSP00000418663:p.Ala655Ser		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A656S	ENST00000495514.1	37	c.1966	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.424595	0.96111	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57107	0.42;0.42;0.42	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.110926	0.64402	D	0.000009	T	0.72236	0.3435	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	0.998;1.0	T	0.66626	-0.5876	10	0.18710	T	0.47	.	19.4878	0.95037	0.0:0.0:1.0:0.0	.	656;655	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	S	655;656;655	ENSP00000418663:A655S;ENSP00000273395:A656S;ENSP00000347546:A655S	ENSP00000273395:A656S	A	+	1	0	BOC	114480935	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.230000	0.95299	2.596000	0.87737	0.563000	0.77884	GCC	BOC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144857		0.607	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	-	0	30	0	G	NM_033254		112998245	1	tier1	-	no_errors	ENST00000273395	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	112998245	G	T	112998245	3	4	154	1	0	0	0	0	1	0	0	0	1483	1203	42	3	2001	3	BOC	3	112998245	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	65535737	112998245	85024185	36	39226											
CCDC52	152185	genome.wustl.edu	37	chr3	113187975	113187975	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgatgaaagagcagatGatggcgttcctggaggagtt	10	9	14	8	1	0	5	0	3	0	2	1	7	1	7	3	3	1	3	3	3	1	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:113187975G>T	ENST00000295872.4	-	8	981	c.722C>A	c.(721-723)tCa>tAa	p.S241*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	241					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AAGAGCAGATGATGGCGTTCC	0.388																																																	0													120	115	117					3																	113187975		2203	4300	6503	SO:0001587	stop_gained	0			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.722C>A	3.37:g.113187975G>T	ENSP00000295872:p.Ser241*		D3DN72|Q8WUX6	Nonsense_Mutation	SNP	NULL	p.S241*	ENST00000295872.4	37	c.722	CCDS2973.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.67|18.67	3.673047|3.673047	0.67928|0.67928	.|.	.|.	ENSG00000163611|ENSG00000163611	ENST00000467618|ENST00000295872	.|.	.|.	.|.	4.91|4.91	4.03|4.03	0.46877|0.46877	.|.	.|0.682300	.|0.14872	.|N	.|0.293489	T|.	0.28863|.	0.0716|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24693|.	-1.0153|.	3|.	.|0.06365	.|T	.|0.9	-1.2091|-1.2091	11.279|11.279	0.49184|0.49184	0.0865:0.0:0.9135:0.0|0.0865:0.0:0.9135:0.0	.|.	.|.	.|.	.|.	N|X	53|241	.|.	.|ENSP00000295872:S241X	H|S	-|-	1|2	0|0	SPICE1|SPICE1	114670665|114670665	0.075000|0.075000	0.21258|0.21258	0.010000|0.010000	0.14722|0.14722	0.016000|0.016000	0.09150|0.09150	2.947000|2.947000	0.49058|0.49058	1.164000|1.164000	0.42652|0.42652	0.591000|0.591000	0.81541|0.81541	CAT|TCA	SPICE1	-	NULL	ENSG00000163611		0.388	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	-	0	51	0	G	NM_144718		113187975	-1	tier1	-	no_errors	ENST00000295872	ensembl	human	known	74_37	nonsense	27.03	27	10	SNP	0.023	T	T	113187975	G	T	113187975	4	4	154	1	0	0	0	0	0	1	0	0	2829	1294	45	3	1889	3	CCDC52	3	113187975	Nonsense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	189730	113187975	84834455	37	39227											
KIAA1407	57577	genome.wustl.edu	37	chr3	113697807	113697807	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tcctgactacgctggaaccaCgtcagcatgtatttcctctg	8	12	8	13	2	2	1	1	1	1	0	4	2	4	2	3	1	3	3	3	1	3	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:113697807C>T	ENST00000295878.3	-	15	2504	c.2358G>A	c.(2356-2358)acG>acA	p.T786T	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	786										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCTGGAACCACGTCAGCATGT	0.393																																																	0													117	115	116					3																	113697807		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2358G>A	3.37:g.113697807C>T			B4DYL1|Q9P2E0	Silent	SNP	NULL	p.T786	ENST00000295878.3	37	c.2358	CCDS2977.1	3																																																																																			KIAA1407	-	NULL	ENSG00000163617		0.393	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2		0	66	0	C	NM_020817		113697807	-1			no_errors	ENST00000295878	ensembl	human	known	74_37	silent	6.98	40	3	SNP	0.508	T	T	113697807	C	T	113697807	2	4	154	1	0	0	0	0	0	0	0	1	8256	523	19	1		1	KIAA1407	3	113697807	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	509832	113697807	84324623	38	39228											
CHST13	166012	genome.wustl.edu	37	chr3	126261328	126261328	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcgcctcttccgggacatCagccccttctaccagcggcg	5	7	11	18	5	3	0	1	0	2	0	4	1	4	1	5	2	3	0	5	2	1	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:126261328C>T	ENST00000319340.2	+	3	983	c.933C>T	c.(931-933)atC>atT	p.I311I		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	311					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)		TCCGGGACATCAGCCCCTTCT	0.697																																																	0													8	9	9					3																	126261328		1769	3652	5421	SO:0001819	synonymous_variant	0			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.933C>T	3.37:g.126261328C>T			Q3SYA3|Q3SYA5	Silent	SNP	pfam_Sulfotransferase	p.I311	ENST00000319340.2	37	c.933	CCDS3039.1	3																																																																																			CHST13	-	pfam_Sulfotransferase	ENSG00000180767		0.697	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST13	HGNC	protein_coding	OTTHUMT00000370201.2	-	0	23	0	C	NM_152889		126261328	1	tier1	-	no_errors	ENST00000319340	ensembl	human	known	74_37	silent	12.77	41	6	SNP	1.000	T	T	126261328	C	T	126261328	2	4	154	1	0	0	0	0	0	0	0	1	3408	816	29	3		3	CHST13	3	126261328	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	12563521	126261328	71761102	39	39229											
DNAJB8	165721	genome.wustl.edu	37	chr3	128181534	128181534	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccattgatcatctcggtGgacgacatcaccgacttgaa	10	10	10	11	3	3	2	2	2	1	0	4	5	3	3	2	3	0	0	2	3	1	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:128181534G>A	ENST00000469083.1	-	2	3112	c.555C>T	c.(553-555)tcC>tcT	p.S185S	DNAJB8_ENST00000319153.3_Silent_p.S185S|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	185	Ser-rich.				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)		TCATCTCGGTGGACGACATCA	0.627																																																	0													117	102	107					3																	128181534		2203	4300	6503	SO:0001819	synonymous_variant	0				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.555C>T	3.37:g.128181534G>A			B3KWV7	Silent	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.S185	ENST00000469083.1	37	c.555	CCDS3048.1	3																																																																																			DNAJB8	-	NULL	ENSG00000179407		0.627	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJB8	HGNC	protein_coding	OTTHUMT00000356933.1	-	0	38	0	G	NM_153330		128181534	-1	tier1	-	no_errors	ENST00000319153	ensembl	human	known	74_37	silent	14.08	61	10	SNP	0.997	A	A	128181534	G	A	128181534	2	1	154	1	0	0	0	0	0	0	0	1	4640	1335	47	3		3	DNAJB8	3	128181534	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	1920206	128181534	69840896	40	39230											
IFT122	55764	genome.wustl.edu	37	chr3	129195640	129195641	+	Frame_Shift_Ins	INS	-	-	A																															agcacctgatcactgagcagINSaaaggtaagaggcaggtcca																										TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:129195640_129195641insA	ENST00000348417.2	+	11	1220_1221	c.1143_1144insA	c.(1144-1146)aaafs	p.K382fs	IFT122_ENST00000504021.1_Frame_Shift_Ins_p.K276fs|IFT122_ENST00000347300.2_Frame_Shift_Ins_p.K323fs|IFT122_ENST00000296266.3_Frame_Shift_Ins_p.K433fs|IFT122_ENST00000431818.2_Frame_Shift_Ins_p.K232fs|IFT122_ENST00000349441.2_Frame_Shift_Ins_p.K271fs|IFT122_ENST00000440957.2_Frame_Shift_Ins_p.K173fs|IFT122_ENST00000507564.1_Frame_Shift_Ins_p.K374fs	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	382					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						TCACTGAGCAGAAAGGTAAGAG	0.515																																																	0																																										SO:0001589	frameshift_variant	0			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.1146dupA	3.37:g.129195643_129195643dupA	ENSP00000324005:p.Lys382fs		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V433fs	ENST00000348417.2	37	c.1296_1297	CCDS3061.1	3																																																																																			IFT122	-	NULL	ENSG00000163913		0.515	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1		0	21	0	-	NM_018262		129195641	1	tier1		no_errors	ENST00000296266	ensembl	human	known	74_37	frame_shift_ins	7.69	24	2	INS	1.000:1.000	A	A	129195641	-	A	129195640	7	5	154	1	0	1	1	0	0	0	0	0	7582	933	33	0	1342	0	IFT122	3	129195640	Frame_Shift_Ins	INS	-	TCGA-S8-A6BW-01A-11D-A31U-09	1014106	129195640	68826790	41	39231											
SI	6476	genome.wustl.edu	37	chr3	164786915	164786915	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttataaccatgattatcaacGaagaagcaccaaggaataag	19	8	7	7	1	1	2	1	1	0	1	1	4	1	3	2	1	3	1	2	1	9	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:164786915G>A	ENST00000264382.3	-	4	386	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	108	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)	GATTATCAACGAAGAAGCACC	0.358										HNSCC(35;0.089)																																							0													70	69	69					3																	164786915		2203	4300	6503	SO:0001819	synonymous_variant	0			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.324C>T	3.37:g.164786915G>A			A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.F108	ENST00000264382.3	37	c.324	CCDS3196.1	3																																																																																			SI	-	pfam_P_trefoil,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	ENSG00000090402		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	52	0	G	NM_001041		164786915	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	silent	11.83	82	11	SNP	0.226	A	A	164786915	G	A	164786915	2	1	154	1	0	0	0	0	0	0	0	1	14342	1049	37	1		1	SI	3	164786915	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	35591275	164786915	33235515	42	39232											
YEATS2	55689	genome.wustl.edu	37	chr3	183495460	183495460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaacgctaaaagtcatctCtggacagaaaaccacattgt	17	8	6	10	1	2	1	1	0	1	1	3	2	2	2	1	1	2	1	1	1	5	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:183495460C>T	ENST00000305135.5	+	19	2903	c.2708C>T	c.(2707-2709)tCt>tTt	p.S903F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	903					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)			AAAGTCATCTCTGGACAGAAA	0.428																																																	0													87	84	85					3																	183495460		2051	4222	6273	SO:0001583	missense	0			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.2708C>T	3.37:g.183495460C>T	ENSP00000306983:p.Ser903Phe		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S903F	ENST00000305135.5	37	c.2708	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920256	0.92249	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	D	0.86497	-2.13	5.68	5.68	0.88126	.	0.140038	0.49305	D	0.000154	D	0.84597	0.5507	N	0.19112	0.55	0.47374	D	0.999408	P	0.49961	0.93	P	0.48030	0.564	D	0.86931	0.2073	10	0.87932	D	0	-21.3199	19.7885	0.96447	0.0:1.0:0.0:0.0	.	903	Q9ULM3	YETS2_HUMAN	F	903	ENSP00000306983:S903F	ENSP00000306983:S903F	S	+	2	0	YEATS2	184978154	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.679000	0.74513	2.660000	0.90430	0.655000	0.94253	TCT	YEATS2	-	NULL	ENSG00000163872		0.428	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2		0	27	0	C	NM_018023		183495460	1			no_errors	ENST00000305135	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	183495460	C	T	183495460	3	4	154	1	0	0	0	0	1	0	0	0	17521	913	32	3	2778	3	YEATS2	3	183495460	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	18708545	183495460	14526970	43	39233											
TBCCD1	55171	genome.wustl.edu	37	chr3	186281915	186281915	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagccacgccaggtccttGgccaactgcagcttcccaca	10	7	8	16	1	0	0	0	0	0	0	2	0	2	0	5	2	4	2	5	2	3	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:186281915G>T	ENST00000424280.1	-	2	683	c.204C>A	c.(202-204)gcC>gcA	p.A68A	TBCCD1_ENST00000338733.5_Silent_p.A68A|TBCCD1_ENST00000446782.1_Intron	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	68					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CCAGGTCCTTGGCCAACTGCA	0.517																																																	0													65	59	61					3																	186281915		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.204C>A	3.37:g.186281915G>T			B3KW69|D3DNU6|G5E9J4	Silent	SNP	pfam_Tubulin-bd_cofactor_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.A68	ENST00000424280.1	37	c.204	CCDS3276.1	3																																																																																			TBCCD1	-	NULL	ENSG00000113838		0.517	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCCD1	HGNC	protein_coding	OTTHUMT00000344774.1		0	27	0	G	NM_018138		186281915	-1			no_errors	ENST00000338733	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.528	T	T	186281915	G	T	186281915	2	4	154	1	0	0	0	0	0	0	0	1	15679	1335	47	3		3	TBCCD1	3	186281915	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	2786455	186281915	11740515	44	39234											
HTT	3064	genome.wustl.edu	37	chr4	3134324	3134324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagacatcttgaactacatcGatcatggagacccacaggtt	13	9	8	11	1	2	3	1	1	1	2	3	5	2	3	1	2	2	1	1	2	2	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:3134324G>A	ENST00000355072.5	+	17	2417	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	758					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)		GAACTACATCGATCATGGAGA	0.488																																																	0													72	73	73					4																	3134324		1968	4168	6136	SO:0001583	missense	0			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.2272G>A	4.37:g.3134324G>A	ENSP00000347184:p.Asp758Asn		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.D758N	ENST00000355072.5	37	c.2272	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039729	0.19669	.	.	ENSG00000197386	ENST00000355072	T	0.64085	-0.08	4.91	4.07	0.47477	Armadillo-like helical (1);Armadillo-type fold (1);	0.202905	0.50627	N	0.000103	T	0.37919	0.1021	N	0.16368	0.405	0.41209	D	0.98642	B	0.21452	0.056	B	0.10450	0.005	T	0.25433	-1.0132	10	0.02654	T	1	.	9.6033	0.39619	0.1609:0.0:0.8391:0.0	.	758	P42858	HD_HUMAN	N	758	ENSP00000347184:D758N	ENSP00000347184:D758N	D	+	1	0	HTT	3104122	1.000000	0.71417	0.908000	0.35775	0.948000	0.59901	4.427000	0.59888	1.199000	0.43173	0.655000	0.94253	GAT	HTT	-	superfamily_ARM-type_fold	ENSG00000197386		0.488	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0	37	0	G	NM_002111		3134324	1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A	A	3134324	G	A	3134324	3	1	154	1	0	0	0	0	1	0	0	0	7484	1058	37	1	2338	1	HTT	4	3134324	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09		3134324	188019952	45	39235											
PPARGC1A	10891	genome.wustl.edu	37	chr4	23815983	23815983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacagccgcagactgggccGcttggtcttcctttcctcgt	6	11	10	14	3	1	1	0	0	1	1	4	1	3	1	4	2	2	2	4	2	1	3	rs199772441		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:23815983G>A	ENST00000264867.2	-	8	1242	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	375	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.R375W(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)				AGACTGGGCCGCTTGGTCTTC	0.478													G|||	1	0.000199681	0	0.0014	5008	,	,		17543	0		0	False		,,,				2504	0				Esophageal Squamous(29;694 744 13796 34866 44181)												1	Substitution - Missense(1)	large_intestine(1)											80	86	84					4																	23815983		2203	4300	6503	SO:0001583	missense	0			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.1123C>T	4.37:g.23815983G>A	ENSP00000264867:p.Arg375Trp		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R375W	ENST00000264867.2	37	c.1123	CCDS3429.1	4	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.13	3.555818	0.65425	.	.	ENSG00000109819	ENST00000264867	T	0.45276	0.9	6.16	4.39	0.52855	.	0.051310	0.85682	D	0.000000	T	0.66528	0.2798	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.72507	-0.4272	10	0.87932	D	0	-7.0295	15.4433	0.75204	0.0:0.0:0.7295:0.2705	.	375	Q9UBK2	PRGC1_HUMAN	W	375	ENSP00000264867:R375W	ENSP00000264867:R375W	R	-	1	2	PPARGC1A	23425081	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	5.106000	0.64597	0.862000	0.35528	-0.188000	0.12872	CGG	PPARGC1A	-	NULL	ENSG00000109819		0.478	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1		0	16	0	G	NM_013261		23815983	-1			no_errors	ENST00000264867	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	A	A	23815983	G	A	23815983	3	1	154	1	0	0	0	0	1	0	0	0	12339	1086	38	1	1297	1	PPARGC1A	4	23815983	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	20681659	23815983	167338293	46	39236											
SLAIN2	57606	genome.wustl.edu	37	chr4	48384732	48384732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcatcatgcagtataccCtgctgttaacaggttttcac	10	14	7	10	0	2	0	2	0	0	0	2	0	2	0	1	1	5	6	1	1	4	6			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:48384732C>A	ENST00000264313.6	+	5	1428	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	SLAIN2_ENST00000512093.1_Missense_Mutation_p.P144H	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	337					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						GCAGTATACCCTGCTGTTAAC	0.453																																																	0													159	156	157					4																	48384732		2062	4201	6263	SO:0001583	missense	0			BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"KIAA1458"	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1010C>A	4.37:g.48384732C>A	ENSP00000264313:p.Pro337His		A8K4P1|Q8N5R3	Missense_Mutation	SNP	NULL	p.P337H	ENST00000264313.6	37	c.1010	CCDS47051.1	4	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212659	0.58452	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.77	5.77	0.91146	.	0.268974	0.41097	D	0.000943	T	0.49253	0.1546	L	0.46157	1.445	0.41969	D	0.990746	B;B	0.28783	0.025;0.222	B;B	0.23275	0.018;0.045	T	0.44922	-0.9296	9	0.34782	T	0.22	-10.3597	13.2175	0.59869	0.0:0.9277:0.0:0.0723	.	7;337	Q9H705;Q9P270	.;SLAI2_HUMAN	H	337;144	.	ENSP00000264313:P337H	P	+	2	0	SLAIN2	48079489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.707000	0.47143	2.723000	0.93209	0.655000	0.94253	CCT	SLAIN2	-	NULL	ENSG00000109171		0.453	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAIN2	HGNC	protein_coding	OTTHUMT00000365807.4	-	0	35	0	C	NM_020846		48384732	1	tier1	-	no_errors	ENST00000264313	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	A	A	48384732	C	A	48384732	3	1	154	1	0	0	0	0	1	0	0	0	14411	681	24	3	1028	3	SLAIN2	4	48384732	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	24568749	48384732	142769544	47	39237											
RUFY3	22902	genome.wustl.edu	37	chr4	71634361	71634361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatttctgtatgaaaggaGaagacttggactctcaggta	13	11	10	7	0	2	3	1	1	2	2	3	5	2	4	1	3	0	2	1	3	5	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:71634361G>A	ENST00000226328.4	+	5	1242	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RUFY3_ENST00000417478.2_Missense_Mutation_p.E287K|RUFY3_ENST00000502653.1_Missense_Mutation_p.E174K|RUFY3_ENST00000381006.3_Missense_Mutation_p.E227K|RUFY3_ENST00000536664.1_Missense_Mutation_p.E211K	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	227	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)			TATGAAAGGAGAAGACTTGGA	0.448																																																	0													198	187	191					4																	71634361		2203	4300	6503	SO:0001583	missense	0			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.679G>A	4.37:g.71634361G>A	ENSP00000226328:p.Glu227Lys		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run	p.E287K	ENST00000226328.4	37	c.859	CCDS3547.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.893582	0.97074	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	5.84	5.84	0.93424	RUN (1);	0.086905	0.85682	D	0.000000	T	0.45296	0.1335	M	0.85373	2.75	0.80722	D	1	D;P;D;P	0.64830	0.994;0.943;0.976;0.454	D;P;P;B	0.76071	0.987;0.704;0.897;0.135	T	0.36648	-0.9739	9	.	.	.	-22.2189	20.1346	0.98019	0.0:0.0:1.0:0.0	.	211;227;227;287	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	K	287;227;227;211;163;174	ENSP00000399771:E287K;ENSP00000370394:E227K;ENSP00000226328:E227K;ENSP00000443652:E211K;ENSP00000425574:E163K;ENSP00000425400:E174K	.	E	+	1	0	RUFY3	71853225	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.659000	0.98597	2.763000	0.94921	0.557000	0.71058	GAA	RUFY3	-	pfscan_Run	ENSG00000018189		0.448	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2	-	0	71	0	G	NM_014961		71634361	1	tier1	-	no_errors	ENST00000417478	ensembl	human	known	74_37	missense	44.44	25	20	SNP	1.000	A	A	71634361	G	A	71634361	3	1	154	1	0	0	0	0	1	0	0	0	13785	943	33	3	1059	3	RUFY3	4	71634361	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	23249629	71634361	119519915	48	39238											
C4orf22	255119	genome.wustl.edu	37	chr4	81504291	81504291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cctacaagataattttctgaCggccctggcaatgagagaag	13	9	10	9	1	1	4	0	2	1	2	1	5	1	4	2	2	1	1	2	2	5	4	rs142731425		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:81504291C>T	ENST00000358105.3	+	3	336	c.287C>T	c.(286-288)aCg>aTg	p.T96M	C4orf22_ENST00000508675.1_Missense_Mutation_p.T96M|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	96										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AATTTTCTGACGGCCCTGGCA	0.353													C|||	1	0.000199681	0	0.0014	5008	,	,		13447	0		0	False		,,,				2504	0																0								C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	81	80	80		287,287	1.8	1	4	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	C4orf22	NM_001206997.1,NM_152770.2	81,81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	96/251,96/234	81504291	2,13004	2203	4300	6503	SO:0001583	missense	0			BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.287C>T	4.37:g.81504291C>T	ENSP00000350818:p.Thr96Met		E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	NULL	p.T96M	ENST00000358105.3	37	c.287	CCDS3587.1	4	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.828	-0.036334	0.07497	2.27E-4	1.16E-4	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.30448	1.53;1.53	5.55	1.79	0.24919	.	0.190189	0.43110	N	0.000604	T	0.12092	0.0294	N	0.08118	0	0.26925	N	0.966598	B;B	0.20887	0.039;0.049	B;B	0.19391	0.021;0.025	T	0.16188	-1.0411	10	0.27082	T	0.32	.	3.2936	0.06958	0.5331:0.2648:0.0705:0.1316	.	96;96	E7EQ13;Q6V702	.;CD022_HUMAN	M	96	ENSP00000350818:T96M;ENSP00000425786:T96M	ENSP00000350818:T96M	T	+	2	0	C4orf22	81723315	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	1.547000	0.36190	0.171000	0.19730	-2.610000	0.00160	ACG	C4orf22	-	NULL	ENSG00000197826		0.353	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf22	HGNC	protein_coding	OTTHUMT00000252629.2		0	38	0	C	NM_152770		81504291	1			no_errors	ENST00000508675	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	81504291	C	T	81504291	3	4	154	1	0	0	0	0	1	0	0	0	2262	536	19	1	297	1	C4orf22	4	81504291	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	9869930	81504291	109649985	49	39239											
PPM1K	152926	genome.wustl.edu	37	chr4	89198310	89198310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccatcagcagacaggcGggcatgactcgaaaaggctt	13	6	11	11	2	1	2	1	1	0	1	2	3	1	2	1	3	2	3	1	3	3	2	rs150935940		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:89198310G>T	ENST00000608933.1	-	3	915	c.526C>A	c.(526-528)Cgc>Agc	p.R176S	PPM1K_ENST00000508256.1_5'UTR|PPM1K_ENST00000506423.1_5'UTR|RNU6-112P_ENST00000363599.1_RNA|PPM1K_ENST00000315194.4_Missense_Mutation_p.R176S|PPM1K_ENST00000295908.7_Missense_Mutation_p.R176S|PPM1K_ENST00000514204.1_Missense_Mutation_p.R176S	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	176	PP2C-like.				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)		GCAGACAGGCGGGCATGACTC	0.448																																																	0													79	83	81					4																	89198310		2203	4300	6503	SO:0001583	missense	0			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.526C>A	4.37:g.89198310G>T	ENSP00000477341:p.Arg176Ser		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.R176S	ENST00000608933.1	37	c.526	CCDS3629.1	4	.	.	.	.	.	.	.	.	.	.	G	3.367	-0.129230	0.06753	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.16196	2.36;2.36;2.36	5.07	5.07	0.68467	Protein phosphatase 2C-like (5);	0.666605	0.16081	N	0.230522	T	0.07954	0.0199	N	0.04090	-0.28	0.28535	N	0.912413	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.11941	-1.0567	10	0.07813	T	0.8	-2.3841	14.0228	0.64568	0.0:0.1524:0.8476:0.0	.	176;176	Q8N3J5-2;Q8N3J5	.;PPM1K_HUMAN	S	176	ENSP00000295908:R176S;ENSP00000424155:R176S;ENSP00000324761:R176S	ENSP00000295908:R176S	R	-	1	0	PPM1K	89417334	1.000000	0.71417	0.998000	0.56505	0.303000	0.27691	3.038000	0.49783	2.822000	0.97130	0.650000	0.86243	CGC	PPM1K	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000163644		0.448	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1K	HGNC	protein_coding	OTTHUMT00000253553.4		0	55	0	G	NM_152542		89198310	-1			no_errors	ENST00000608933	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	89198310	G	T	89198310	3	4	154	1	0	0	0	0	1	0	0	0	12385	1116	39	2	612	2	PPM1K	4	89198310	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	7694019	89198310	101955966	50	39240											
TET2	54790	genome.wustl.edu	37	chr4	106157695	106157695	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaaacttgcatcacatgCaatattttccaaataatgtg	15	12	4	10	0	1	0	1	0	0	0	2	0	2	0	2	0	3	2	2	0	6	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:106157695C>A	ENST00000540549.1	+	3	3456	c.2596C>A	c.(2596-2598)Caa>Aaa	p.Q866K	TET2_ENST00000394764.1_Missense_Mutation_p.Q866K|TET2_ENST00000513237.1_Missense_Mutation_p.Q887K|TET2_ENST00000380013.4_Missense_Mutation_p.Q866K|TET2_ENST00000545826.1_Missense_Mutation_p.Q866K|TET2_ENST00000305737.2_Missense_Mutation_p.Q866K|TET2_ENST00000413648.2_Missense_Mutation_p.Q866K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	866	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.Q866*(3)		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)		GCATCACATGCAATATTTTCC	0.383			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)											71	68	69					4																	106157695		2203	4300	6503	SO:0001583	missense	0			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.2596C>A	4.37:g.106157695C>A	ENSP00000442788:p.Gln866Lys		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.Q866K	ENST00000540549.1	37	c.2596	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387836	0.61956	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.12569	2.73;3.8;2.67;3.79;3.8;2.73;2.79	5.79	5.79	0.91817	.	3.057810	0.01498	N	0.017364	T	0.21962	0.0529	L	0.34521	1.04	0.43678	D	0.996115	P;P;P	0.51351	0.518;0.518;0.944	B;B;B	0.43052	0.088;0.088;0.406	T	0.44907	-0.9297	10	0.66056	D	0.02	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	887;866;866	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	K	866;866;866;887;866;866;866	ENSP00000306705:Q866K;ENSP00000442788:Q866K;ENSP00000442867:Q866K;ENSP00000425443:Q887K;ENSP00000369351:Q866K;ENSP00000378245:Q866K;ENSP00000391448:Q866K	ENSP00000265149:Q866K	Q	+	1	0	TET2	106377144	1.000000	0.71417	0.921000	0.36526	0.981000	0.71138	4.494000	0.60347	2.733000	0.93635	0.655000	0.94253	CAA	TET2	-	NULL	ENSG00000168769		0.383	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2		0	22	0	C	NM_017628		106157695	1			no_errors	ENST00000380013	ensembl	human	known	74_37	missense	14.29	12	2	SNP	1.000	A	A	106157695	C	A	106157695	3	1	154	1	0	0	0	0	1	0	0	0	15817	711	25	3	2598	3	TET2	4	106157695	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	16959385	106157695	84996581	51	39241											
ANKRD50	57182	genome.wustl.edu	37	chr4	125591662	125591662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacaatgtccctgtgccCttctaatgcagcaacccgca	10	10	6	15	1	2	0	1	0	1	0	3	0	3	0	3	0	5	3	3	0	4	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:125591662C>A	ENST00000504087.1	-	4	3807	c.2770G>T	c.(2770-2772)Ggg>Tgg	p.G924W	ANKRD50_ENST00000515641.1_Missense_Mutation_p.G745W	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	924										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						TCCCTGTGCCCTTCTAATGCA	0.403																																																	0													90	87	88					4																	125591662		2203	4300	6503	SO:0001583	missense	0			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.2770G>T	4.37:g.125591662C>A	ENSP00000425658:p.Gly924Trp		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G924W	ENST00000504087.1	37	c.2770	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043987	0.75732	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.75154	-0.91;-0.91	5.23	5.23	0.72850	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.89829	0.6828	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91868	0.5505	10	0.87932	D	0	.	18.9964	0.92815	0.0:1.0:0.0:0.0	.	924	Q9ULJ7	ANR50_HUMAN	W	924;745	ENSP00000425658:G924W;ENSP00000425355:G745W	ENSP00000425658:G924W	G	-	1	0	ANKRD50	125811112	1.000000	0.71417	0.857000	0.33713	0.858000	0.48976	7.164000	0.77533	2.724000	0.93272	0.561000	0.74099	GGG	ANKRD50	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151458		0.403	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1		0	35	0	C	NM_020337		125591662	-1			no_errors	ENST00000504087	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	125591662	C	A	125591662	3	1	154	1	0	0	0	0	1	0	0	0	677	681	24	3	1523	3	ANKRD50	4	125591662	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	19433967	125591662	65562614	52	39242											
LRRC14B	389257	genome.wustl.edu	37	chr5	191776	191776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactcctgttcaaagccagCtacctgctggagcaggcgga	9	7	11	14	1	1	0	1	0	0	0	2	2	2	2	4	3	5	4	4	3	2	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:191776C>T	ENST00000328278.3	+	1	151	c.123C>T	c.(121-123)agC>agT	p.S41S		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	41										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TCAAAGCCAGCTACCTGCTGG	0.682																																																	0													15	18	17					5																	191776		2085	4215	6300	SO:0001819	synonymous_variant	0				CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.123C>T	5.37:g.191776C>T				Silent	SNP	NULL	p.S41	ENST00000328278.3	37	c.123	CCDS47184.1	5																																																																																			LRRC14B	-	NULL	ENSG00000185028		0.682	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC14B	HGNC	protein_coding	OTTHUMT00000365393.2	-	0	40	0	C	NM_001080478		191776	1	tier1	-	no_errors	ENST00000328278	ensembl	human	novel	74_37	silent	6.67	56	4	SNP	1.000	T	T	191776	C	T	191776	2	4	154	1	0	0	0	0	0	0	0	1	9004	796	28	3		3	LRRC14B	5	191776	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09		191776	180723484	53	39243											
CDH6	1004	genome.wustl.edu	37	chr5	31323263	31323263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttggccacttacgcctatGaaggcactggctccgtggcg	6	9	12	14	3	0	1	0	1	0	0	1	1	1	1	4	4	1	2	4	4	3	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:31323263G>A	ENST00000265071.2	+	12	2486	c.2221G>A	c.(2221-2223)Gaa>Aaa	p.E741K		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	741					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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E741K(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTACGCCTATGAAGGCACTGG	0.527																																																	2	Substitution - Missense(2)	ovary(1)|skin(1)											45	44	45					5																	31323263		2203	4300	6503	SO:0001583	missense	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2221G>A	5.37:g.31323263G>A	ENSP00000265071:p.Glu741Lys		A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E741K	ENST00000265071.2	37	c.2221	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.747362	0.96882	.	.	ENSG00000113361	ENST00000265071	D	0.87887	-2.31	5.66	5.66	0.87406	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.96488	0.8854	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97411	1.0002	10	0.87932	D	0	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	741	P55285	CADH6_HUMAN	K	741	ENSP00000265071:E741K	ENSP00000265071:E741K	E	+	1	0	CDH6	31359020	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	GAA	CDH6	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113361		0.527	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	-	0	33	0	G	NM_004932		31323263	1	tier1	-	no_errors	ENST00000265071	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	A	A	31323263	G	A	31323263	3	1	154	1	0	0	0	0	1	0	0	0	3121	1291	45	3	2263	3	CDH6	5	31323263	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	31131487	31323263	149591997	54	39244											
OSMR	9180	genome.wustl.edu	37	chr5	38885478	38885478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagcccaaggacttttCttgtgaaaccgaggacttca	11	10	11	9	1	2	2	1	2	1	0	2	6	2	5	2	3	2	0	2	3	2	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:38885478C>A	ENST00000274276.3	+	6	1133	c.731C>A	c.(730-732)tCt>tAt	p.S244Y	OSMR_ENST00000502536.1_Missense_Mutation_p.S244Y	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	244					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAGGACTTTTCTTGTGAAACC	0.433																																																	0													94	91	92					5																	38885478		2203	4300	6503	SO:0001583	missense	0			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.731C>A	5.37:g.38885478C>A	ENSP00000274276:p.Ser244Tyr		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S244Y	ENST00000274276.3	37	c.731	CCDS3928.1	5	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903100	0.72754	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.69806	-0.43;-0.43	5.33	5.33	0.75918	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.436377	0.28641	N	0.014623	T	0.81631	0.4863	M	0.78801	2.425	0.40137	D	0.976787	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84363	0.0539	10	0.87932	D	0	.	14.5157	0.67818	0.0:1.0:0.0:0.0	.	244;244	Q99650;Q99650-2	OSMR_HUMAN;.	Y	244	ENSP00000422023:S244Y;ENSP00000274276:S244Y	ENSP00000274276:S244Y	S	+	2	0	OSMR	38921235	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	2.440000	0.44855	2.498000	0.84270	0.655000	0.94253	TCT	OSMR	-	superfamily_Fibronectin_type3	ENSG00000145623		0.433	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2		0	37	0	C	NM_003999		38885478	1			no_errors	ENST00000274276	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	38885478	C	A	38885478	3	1	154	1	0	0	0	0	1	0	0	0	11331	913	32	3	749	3	OSMR	5	38885478	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	7562215	38885478	142029782	55	39245											
BDP1	55814	genome.wustl.edu	37	chr5	70810788	70810788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggatgaagcttccctaatGatatcaagagaaaaagacac	18	8	8	7	0	1	4	1	2	0	2	2	6	2	5	1	1	1	1	1	1	7	4	rs200549009		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:70810788G>T	ENST00000358731.4	+	20	4751	c.4488G>T	c.(4486-4488)atG>atT	p.M1496I	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	1496					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)		CTTCCCTAATGATATCAAGAG	0.348																																																	0													57	54	55					5																	70810788		1854	4098	5952	SO:0001583	missense	0			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.4488G>T	5.37:g.70810788G>T	ENSP00000351575:p.Met1496Ile		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.M1496I	ENST00000358731.4	37	c.4488	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	6.397	0.441325	0.12164	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.09723	2.95	4.65	2.87	0.33458	.	0.637163	0.14780	N	0.298872	T	0.10981	0.0268	L	0.56769	1.78	0.09310	N	0.999991	B;P	0.38370	0.017;0.628	B;B	0.35039	0.013;0.194	T	0.16394	-1.0404	10	0.59425	D	0.04	.	7.1277	0.25482	0.1926:0.0:0.8074:0.0	.	1496;1496	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	I	1496;1076	ENSP00000351575:M1496I	ENSP00000351575:M1496I	M	+	3	0	BDP1	70846544	0.022000	0.18835	0.006000	0.13384	0.212000	0.24457	1.913000	0.39956	0.586000	0.29626	0.484000	0.47621	ATG	BDP1	-	NULL	ENSG00000145734		0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	-	0	18	0	G	NM_018429		70810788	1	tier1	-	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	24.14	22	7	SNP	0.004	T	T	70810788	G	T	70810788	3	4	154	1	0	0	0	0	1	0	0	0	1396	1290	45	3	4566	3	BDP1	5	70810788	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	31925310	70810788	110104472	56	39246											
ZFYVE16	9765	genome.wustl.edu	37	chr5	79733702	79733702	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacggggtgattttttacctCagcatgaacataaagataat	14	12	8	7	1	1	3	1	2	0	1	1	3	1	3	1	2	3	1	1	2	5	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:79733702C>T	ENST00000338008.5	+	3	1378	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.Q400*|ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.Q400*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	400					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)		TTTTTTACCTCAGCATGAACA	0.398																																					Melanoma(150;1452 1854 16018 17851 37292)												0													61	59	60					5																	79733702		2203	4299	6502	SO:0001587	stop_gained	0			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.1198C>T	5.37:g.79733702C>T	ENSP00000337159:p.Gln400*		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Nonsense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.Q400*	ENST00000338008.5	37	c.1198	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100798	0.56183	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.37	4.49	0.54785	.	0.667593	0.13892	N	0.355526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	4.5712	9.3184	0.37948	0.0:0.7773:0.1439:0.0788	.	.	.	.	X	400	.	ENSP00000337159:Q400X	Q	+	1	0	ZFYVE16	79769458	0.159000	0.22864	0.021000	0.16686	0.260000	0.26232	2.456000	0.44997	1.381000	0.46364	0.655000	0.94253	CAG	ZFYVE16	-	pirsf_Znf_FYVE_SARA/endofin	ENSG00000039319		0.398	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	-	0	21	0	C	NM_014733		79733702	1	tier1	-	no_errors	ENST00000338008	ensembl	human	known	74_37	nonsense	24.44	34	11	SNP	0.016	T	T	79733702	C	T	79733702	4	4	154	1	0	0	0	0	0	1	0	0	17712	827	29	3	1204	3	ZFYVE16	5	79733702	Nonsense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	8922914	79733702	101181558	57	39247											
ZFYVE16	9765	genome.wustl.edu	37	chr5	79733788	79733788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttctaggtggggaaccattCaaagagaatgatcttttgaa	13	12	11	5	0	3	3	1	2	2	1	3	5	3	4	1	3	1	1	1	3	5	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:79733788C>G	ENST00000338008.5	+	3	1464	c.1284C>G	c.(1282-1284)ttC>ttG	p.F428L	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.F428L|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.F428L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	428					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)		GGGAACCATTCAAAGAGAATG	0.358																																					Melanoma(150;1452 1854 16018 17851 37292)												0													48	47	47					5																	79733788		2203	4300	6503	SO:0001583	missense	0			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.1284C>G	5.37:g.79733788C>G	ENSP00000337159:p.Phe428Leu		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.F428L	ENST00000338008.5	37	c.1284	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	C	4.659	0.122575	0.08931	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.35605	1.3;1.3;1.3	5.23	-2.28	0.06826	.	0.690985	0.12892	N	0.430508	T	0.10981	0.0268	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30679	-0.9970	10	0.02654	T	1	0.0181	3.2558	0.06831	0.0953:0.2689:0.1371:0.4987	.	428;428	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	L	428	ENSP00000337159:F428L;ENSP00000423663:F428L;ENSP00000426848:F428L	ENSP00000337159:F428L	F	+	3	2	ZFYVE16	79769544	0.000000	0.05858	0.001000	0.08648	0.803000	0.45373	-0.523000	0.06230	-0.351000	0.08249	0.561000	0.74099	TTC	ZFYVE16	-	pirsf_Znf_FYVE_SARA/endofin	ENSG00000039319		0.358	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	-	0	18	0	C	NM_014733		79733788	1	tier1	-	no_errors	ENST00000338008	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.000	G	G	79733788	C	G	79733788	3	3	154	1	0	0	0	0	1	0	0	0	17712	825	29	5	1290	5	ZFYVE16	5	79733788	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	86	79733788	101181472	58	39248											
VCAN	1462	genome.wustl.edu	37	chr5	82837230	82837230	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgtgatggaaggatccaAtcccccatattacactgata	13	11	8	9	0	0	3	0	3	0	0	2	5	2	5	3	2	1	0	3	2	5	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:82837230A>G	ENST00000265077.3	+	8	8973	c.8408A>G	c.(8407-8409)aAt>aGt	p.N2803S	VCAN_ENST00000343200.5_Missense_Mutation_p.N1816S|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2803	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAAGGATCCAATCCCCCATAT	0.443																																																	0													140	133	136					5																	82837230		2203	4300	6503	SO:0001583	missense	0			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.8408A>G	5.37:g.82837230A>G	ENSP00000265077:p.Asn2803Ser		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.N2803S	ENST00000265077.3	37	c.8408	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780330	0.31502	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.29142	1.58;1.58	6.17	-11.8	0.00035	.	1.226840	0.05532	N	0.564082	T	0.11324	0.0276	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	0.22034	-1.0228	10	0.07325	T	0.83	.	11.2048	0.48762	0.248:0.1808:0.5712:0.0	.	1816;2803	P13611-2;P13611	.;CSPG2_HUMAN	S	2803;1816	ENSP00000265077:N2803S;ENSP00000340062:N1816S	ENSP00000265077:N2803S	N	+	2	0	VCAN	82872986	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	-2.685000	0.00834	-2.191000	0.00756	-0.242000	0.12053	AAT	VCAN	-	NULL	ENSG00000038427		0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	27	0	A	NM_004385		82837230	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.000	G	G	82837230	A	G	82837230	3	3	154	1	0	0	0	0	1	0	0	0	17187	101	4	4	8434	4	VCAN	5	82837230	Missense_Mutation	SNP	A	TCGA-S8-A6BW-01A-11D-A31U-09	3103442	82837230	98078030	59	39249											
LNPEP	4012	genome.wustl.edu	37	chr5	96341827	96341827	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatgaaaacctggaccctGcagaaaggatttcctttagt	13	11	9	8	0	0	3	0	2	0	1	1	5	1	5	3	2	2	1	3	2	4	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:96341827G>T	ENST00000231368.5	+	10	2528	c.1836G>T	c.(1834-1836)ctG>ctT	p.L612L	LNPEP_ENST00000395770.3_Silent_p.L598L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	612					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CCTGGACCCTGCAGAAAGGAT	0.289																																																	0													51	55	54					5																	96341827		2203	4296	6499	SO:0001819	synonymous_variant	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1836G>T	5.37:g.96341827G>T			O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L612	ENST00000231368.5	37	c.1836	CCDS4087.1	5																																																																																			LNPEP	-	NULL	ENSG00000113441		0.289	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	-	0	51	0	G	NM_005575		96341827	1	tier1	-	no_errors	ENST00000231368	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.998	T	T	96341827	G	T	96341827	2	4	154	1	0	0	0	0	0	0	0	1	8894	1306	46	3		3	LNPEP	5	96341827	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	13504597	96341827	84573433	60	39250											
PPIP5K2	23262	genome.wustl.edu	37	chr5	102465376	102465376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgacatttcttccaccatgCagatgaagacgatgaggagg	12	9	11	9	2	1	4	0	2	1	2	3	7	2	5	2	2	1	1	2	2	1	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:102465376C>T	ENST00000358359.3	+	2	592	c.83C>T	c.(82-84)gCa>gTa	p.A28V	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A28V|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.A28V	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	28					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						TTCCACCATGCAGATGAAGAC	0.368																																																	0													106	102	103					5																	102465376		2203	4300	6503	SO:0001583	missense	0			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.83C>T	5.37:g.102465376C>T	ENSP00000351126:p.Ala28Val		A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.A28V	ENST00000358359.3	37	c.83		5	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956390	0.53293	.	.	ENSG00000145725	ENST00000515845;ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.14022	2.54;2.54;2.54	5.66	4.75	0.60458	.	0.320500	0.30118	N	0.010366	T	0.07683	0.0193	N	0.08118	0	0.29798	N	0.832646	B;B	0.29341	0.001;0.242	B;B	0.26310	0.001;0.068	T	0.10064	-1.0646	10	0.44086	T	0.13	.	13.1807	0.59653	0.0:0.8395:0.1605:0.0	.	28;28	O43314-2;O43314	.;VIP2_HUMAN	V	28	ENSP00000313070:A28V;ENSP00000351126:A28V;ENSP00000416016:A28V	ENSP00000313070:A28V	A	+	2	0	PPIP5K2	102493275	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.697000	0.37784	2.831000	0.97527	0.650000	0.86243	GCA	PPIP5K2	-	NULL	ENSG00000145725		0.368	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	-	0	24	0	C	NM_015216		102465376	1	tier1	-	no_errors	ENST00000358359	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T	T	102465376	C	T	102465376	3	4	154	1	0	0	0	0	1	0	0	0	12375	710	25	3	85	3	PPIP5K2	5	102465376	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	6123549	102465376	78449884	61	39251											
MATR3	9782	genome.wustl.edu	37	chr5	138661312	138661312	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgactatacaatcccagatGagtatagaattggaccatat	16	10	7	8	1	0	3	0	1	0	2	1	5	1	4	2	1	1	1	2	1	7	6			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:138661312G>T	ENST00000394805.3	+	13	2667	c.2332G>T	c.(2332-2334)Gag>Tag	p.E778*	MATR3_ENST00000502499.1_Nonsense_Mutation_p.E440*|MATR3_ENST00000394800.2_Nonsense_Mutation_p.E826*|MATR3_ENST00000510056.1_Nonsense_Mutation_p.E778*|MATR3_ENST00000361059.2_Nonsense_Mutation_p.E778*|MATR3_ENST00000509990.1_Nonsense_Mutation_p.E778*|MATR3_ENST00000503811.1_Nonsense_Mutation_p.E490*|MATR3_ENST00000502929.1_Nonsense_Mutation_p.E826*|MATR3_ENST00000504203.1_Nonsense_Mutation_p.E440*	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	778					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AATCCCAGATGAGTATAGAAT	0.408																																																	0													136	121	126					5																	138661312		2203	4300	6503	SO:0001587	stop_gained	0			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.2332G>T	5.37:g.138661312G>T	ENSP00000378284:p.Glu778*		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Nonsense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.E778*	ENST00000394805.3	37	c.2332	CCDS4210.1	5	.	.	.	.	.	.	.	.	.	.	G	44	11.090375	0.99514	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000503811;ENST00000337359	.	.	.	4.29	4.29	0.51040	.	0.298098	0.37261	N	0.002172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-5.2297	17.29	0.87153	0.0:0.0:1.0:0.0	.	.	.	.	X	778;778;440;826;826;778;440;778;490;214	.	ENSP00000338208:E214X	E	+	1	0	MATR3	138689211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.378000	0.73150	2.380000	0.81148	0.585000	0.79938	GAG	MATR3	-	NULL	ENSG00000015479		0.408	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MATR3	HGNC	protein_coding	OTTHUMT00000251324.2	-	0	23	0	G	NM_018834		138661312	1	tier1	-	no_errors	ENST00000361059	ensembl	human	known	74_37	nonsense	17.65	14	3	SNP	1.000	T	T	138661312	G	T	138661312	4	4	154	1	0	0	0	0	0	1	0	0	9375	1291	45	3	2378	3	MATR3	5	138661312	Nonsense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	36195936	138661312	42253948	62	39252											
PCDHA3	56145	genome.wustl.edu	37	chr5	140181370	140181371	+	Frame_Shift_Ins	INS	-	-	A																															aatcccttggactcgtgttgINSaaaaaaaatttaaatcgaga																										TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:140181370_140181371insA	ENST00000522353.2	+	1	588_589	c.588_589insA	c.(589-591)aaafs	p.K197fs	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Frame_Shift_Ins_p.K197fs|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	197	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCGTGTTGAAAAAAAATTT	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.596dupA	5.37:g.140181378_140181378dupA	ENSP00000429808:p.Lys197fs		O75286	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N198fs	ENST00000522353.2	37	c.588_589	CCDS54915.1	5																																																																																			PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000255408		0.361	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2		0	20	0	-	NM_018906		140181371	1	tier1		no_errors	ENST00000522353	ensembl	human	known	74_37	frame_shift_ins	12.00	22	3	INS	0.860:0.987	A	A	140181371	-	A	140181370	7	5	154	1	0	1	1	0	0	0	0	0	11564	1281	45	0	590	0	PCDHA3	5	140181370	Frame_Shift_Ins	INS	-	TCGA-S8-A6BW-01A-11D-A31U-09	1520058	140181370	40733890	63	39253											
PCDHA5	56145	genome.wustl.edu	37	chr5	140203783	140203783	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatgtcacattcacccacTttttttgtatttaaaaatta	14	18	2	7	0	2	0	2	0	0	0	2	0	2	0	1	0	0	1	1	0	7	9			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:140203783T>C	ENST00000522353.2	+	1	2394				PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.L808P|PCDHA4_ENST00000512229.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCACCCACTTTTTTTGTAT	0.323																																																	0													36	40	38					5																	140203783		2203	4300	6503	SO:0001627	intron_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2394+20607T>C	5.37:g.140203783T>C			O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L808P	ENST00000522353.2	37	c.2423	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	T	10.75	1.439571	0.25900	.	.	ENSG00000204965	ENST00000378126	T	0.52983	0.64	3.72	-0.89	0.10577	.	.	.	.	.	T	0.28067	0.0692	.	.	.	0.09310	N	1	B	0.17268	0.021	B	0.19946	0.027	T	0.22836	-1.0205	7	.	.	.	.	5.7244	0.18004	0.2696:0.0:0.2789:0.4515	.	808	Q9Y5H7-2	.	P	808	ENSP00000367366:L808P	.	L	+	2	0	PCDHA5	140183967	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.464000	0.06688	-0.378000	0.07918	0.402000	0.26972	CTT	PCDHA5	-	NULL	ENSG00000204965		0.323	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372848.2		0	10	0	T	NM_018906		140203783	1			no_errors	ENST00000378126	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.000	C	C	140203783	T	C	140203783	1	2	154	0	1	0	0	0	0	0	0	0	11566	1609	56	4		4	PCDHA5	5	140203783	Intron	SNP	T	TCGA-S8-A6BW-01A-11D-A31U-09	22413	140203783	40711477	64	39254											
ODZ2	57451	genome.wustl.edu	37	chr5	167675195	167675195	+	Frame_Shift_Del	DEL	C	C	-																															ttccatgggggactctatgaCcccctgaccaagctggtcca																										TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:167675195delC	ENST00000518659.1	+	27	7290	c.7251delC	c.(7249-7251)gacfs	p.D2417fs	TENM2_ENST00000520394.1_Frame_Shift_Del_p.D2178fs|TENM2_ENST00000519204.1_Frame_Shift_Del_p.D2296fs|TENM2_ENST00000403607.2_Frame_Shift_Del_p.D2241fs|TENM2_ENST00000545108.1_Frame_Shift_Del_p.D2416fs	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2417					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)										GACTCTATGACCCCCTGACCA	0.522																																																	0													90	94	93					5																	167675195		2009	4186	6195	SO:0001589	frameshift_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7251delC	5.37:g.167675195delC	ENSP00000429430:p.Asp2417fs		Q9ULU2	Frame_Shift_Del	DEL	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.L2419fs	ENST00000518659.1	37	c.7251		5																																																																																			TENM2	-	tigrfam_Rhs_assc_core	ENSG00000145934		0.522	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1		0	28	0	C	NM_001122679		167675195	1	tier1		no_errors	ENST00000518659	ensembl	human	known	74_37	frame_shift_del	10.00	27	3	DEL	1.000	-	-	167675195	C	-	167675195	7	5	154	1	0	1	0	1	0	0	0	0	10874	506	18	0	7330	0	ODZ2	5	167675195	Frame_Shift_Del	DEL	C	TCGA-S8-A6BW-01A-11D-A31U-09	27471412	167675195	13240065	65	39255											
HIST1H3G	8355	genome.wustl.edu	37	chr6	26271561	26271561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagtggccagctgcttgcGcggcgctttgccaccggtgg	3	10	15	13	4	0	0	0	0	0	0	0	0	0	0	3	4	4	3	3	4	1	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:26271561G>A	ENST00000305910.3	-	1	51	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	18					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCTGCTTGCGCGGCGCTTTG	0.632																																																	0													26	31	29					6																	26271561		2199	4297	6496	SO:0001583	missense	0			Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"Histones / Replication-dependent"	4772	protein-coding gene	gene with protein product		602815	"H3 histone family, member H", "histone 1, H3g"	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.52C>T	6.37:g.26271561G>A	ENSP00000439660:p.Arg18Cys		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R18C	ENST00000305910.3	37	c.52	CCDS4602.1	6	.	.	.	.	.	.	.	.	.	.	.	11.39	1.624089	0.28889	.	.	ENSG00000256018	ENST00000305910	T	0.50001	0.76	4.56	4.56	0.56223	.	.	.	.	.	T	0.58581	0.2132	.	.	.	0.42822	D	0.993995	.	.	.	.	.	.	T	0.65524	-0.6147	6	0.87932	D	0	.	16.7227	0.85414	0.0:0.0:1.0:0.0	.	.	.	.	C	18	ENSP00000439660:R18C	ENSP00000439660:R18C	R	-	1	0	HIST1H3G	26379540	1.000000	0.71417	0.966000	0.40874	0.042000	0.13812	3.081000	0.50120	2.265000	0.75225	0.563000	0.77884	CGC	HIST1H3G	-	superfamily_Histone-fold,prints_Histone_H3	ENSG00000256018		0.632	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3G	HGNC	protein_coding	OTTHUMT00000040099.2	-	0	59	0	G	NM_003534		26271561	-1	tier1	-	no_errors	ENST00000305910	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.998	A	A	26271561	G	A	26271561	3	1	154	1	0	0	0	0	1	0	0	0	7188	1087	38	1	362	1	HIST1H3G	6	26271561	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09		26271561	144843506	66	39256											
VARS2	57176	genome.wustl.edu	37	chr6	30888139	30888139	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtttgtggcccgggaaaaGataatgtctgtgctgagtga	9	11	15	6	2	1	3	0	2	1	1	1	4	1	4	1	3	1	2	1	3	3	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:30888139G>A	ENST00000321897.5	+	13	1955	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	VARS2_ENST00000541562.1_Silent_p.K471K|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Silent_p.K301K|VARS2_ENST00000416670.2_Silent_p.K441K			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	441					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						CCCGGGAAAAGATAATGTCTG	0.502																																																	0													43	47	46					6																	30888139		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1323G>A	6.37:g.30888139G>A			A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.K471	ENST00000321897.5	37	c.1413	CCDS34387.1	6																																																																																			VARS2	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Valyl-tRNA_ligase	ENSG00000137411		0.502	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	HGNC	protein_coding	OTTHUMT00000076566.2	-	0	17	0	G	NM_020442		30888139	1	tier1	-	no_errors	ENST00000541562	ensembl	human	known	74_37	silent	31.58	13	6	SNP	0.812	A	A	30888139	G	A	30888139	2	1	154	1	0	0	0	0	0	0	0	1	17173	933	33	3		3	VARS2	6	30888139	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	4616578	30888139	140226928	67	39257											
NOTCH4	4855	genome.wustl.edu	37	chr6	32187428	32187428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gacaggtgcttcctgggtggCagggctgggagaggcactca	7	7	18	9	0	1	1	1	0	0	1	2	3	2	1	1	6	1	4	1	6	0	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:32187428C>A	ENST00000375023.3	-	8	1589	c.1451G>T	c.(1450-1452)tGc>tTc	p.C484F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	484	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.C484Y(1)		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						TCCTGGGTGGCAGGGCTGGGA	0.607																																																	1	Substitution - Missense(1)	large_intestine(1)											93	65	75					6																	32187428		1510	2709	4219	SO:0001583	missense	0				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.1451G>T	6.37:g.32187428C>A	ENSP00000364163:p.Cys484Phe		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.C484F	ENST00000375023.3	37	c.1451	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538387	0.65085	.	.	ENSG00000204301	ENST00000375023	D	0.94793	-3.52	4.0	4.0	0.46444	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45606	D	0.000356	D	0.98535	0.9511	H	0.99740	4.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98824	1.0748	10	0.87932	D	0	.	13.6604	0.62363	0.0:1.0:0.0:0.0	.	484;484	Q6P3V5;Q99466	.;NOTC4_HUMAN	F	484	ENSP00000364163:C484F	ENSP00000364163:C484F	C	-	2	0	NOTCH4	32295406	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	7.140000	0.77322	2.069000	0.61940	0.455000	0.32223	TGC	NOTCH4	-	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000204301		0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2		0	69	0	C			32187428	-1			no_errors	ENST00000375023	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	A	A	32187428	C	A	32187428	3	1	154	1	0	0	0	0	1	0	0	0	10590	710	25	3	4652	3	NOTCH4	6	32187428	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	1299289	32187428	138927639	68	39258											
CRISP1	167	genome.wustl.edu	37	chr6	49825077	49825077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacataggcagtaagcaagCagcagcaaccaaaaacaaga	21	2	8	10	0	0	1	0	0	0	1	0	1	0	1	1	1	7	6	1	1	8	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:49825077C>T	ENST00000335847.4	-	2	138	c.37G>A	c.(37-39)Gct>Act	p.A13T	CRISP1_ENST00000536021.1_Missense_Mutation_p.A13T|CRISP1_ENST00000355791.2_Missense_Mutation_p.A13T|CRISP1_ENST00000507853.1_Missense_Mutation_p.A13T|CRISP1_ENST00000329411.5_Missense_Mutation_p.A13T|CRISP1_ENST00000505118.1_Missense_Mutation_p.A13T	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	13					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)					AGTAAGCAAGCAGCAGCAACC	0.318																																																	0													97	89	91					6																	49825077		2203	4300	6503	SO:0001583	missense	0			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.37G>A	6.37:g.49825077C>T	ENSP00000338276:p.Ala13Thr		B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.A13T	ENST00000335847.4	37	c.37	CCDS4931.1	6	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636124	0.29068	.	.	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	1.4	0.22301	CAP domain (1);	0.937041	0.08971	N	0.867196	T	0.06188	0.0160	L	0.53671	1.685	0.09310	N	1	D;P	0.57571	0.98;0.906	P;P	0.50617	0.646;0.521	T	0.26189	-1.0110	9	.	.	.	.	3.6276	0.08119	0.1957:0.5967:0.0:0.2077	.	13;13	P54107-2;P54107	.;CRIS1_HUMAN	T	13	ENSP00000425020:A13T;ENSP00000338276:A13T;ENSP00000348044:A13T;ENSP00000331317:A13T;ENSP00000427589:A13T;ENSP00000441798:A13T	.	A	-	1	0	CRISP1	49933036	0.000000	0.05858	0.002000	0.10522	0.250000	0.25880	-0.154000	0.10130	0.304000	0.22809	-0.150000	0.13652	GCT	CRISP1	-	superfamily_CAP_domain	ENSG00000124812		0.318	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISP1	HGNC	protein_coding	OTTHUMT00000040875.2	-	0	27	0	C	NM_001131		49825077	-1	tier1	-	no_errors	ENST00000335847	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.002	T	T	49825077	C	T	49825077	3	4	154	1	0	0	0	0	1	0	0	0	3886	710	25	3	740	3	CRISP1	6	49825077	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	17637649	49825077	121289990	69	39259											
TFAP2B	7021	genome.wustl.edu	37	chr6	50805745	50805745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctagaaaaaatcggtttGaatttacccgcgggcaggcg	12	8	13	8	4	0	2	0	1	0	1	1	2	0	2	1	4	1	3	1	4	6	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:50805745G>T	ENST00000393655.3	+	5	1048	c.879G>T	c.(877-879)ttG>ttT	p.L293F	TFAP2B_ENST00000263046.4_Missense_Mutation_p.L302F	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	293					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)					AAATCGGTTTGAATTTACCCG	0.463																																					Pancreas(116;1373 2332 5475 10752)												0													93	98	96					6																	50805745		2203	4300	6503	SO:0001583	missense	0			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.879G>T	6.37:g.50805745G>T	ENSP00000377265:p.Leu293Phe		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.L302F	ENST00000393655.3	37	c.906	CCDS4934.2	6	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928102	0.73327	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.98012	-4.66;-4.66	5.45	5.45	0.79879	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99111	0.9694	M	0.92268	3.29	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99505	1.0954	10	0.87932	D	0	-11.4004	19.6454	0.95775	0.0:0.0:1.0:0.0	.	293	Q92481	AP2B_HUMAN	F	293;302	ENSP00000377265:L293F;ENSP00000263046:L302F	ENSP00000263046:L302F	L	+	3	2	TFAP2B	50913704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.496000	0.66918	2.714000	0.92807	0.561000	0.74099	TTG	TFAP2B	-	pfam_TF_AP2_C,prints_TF_AP2_C	ENSG00000008196		0.463	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	-	0	40	0	G	NM_003221		50805745	1	tier1	-	no_errors	ENST00000263046	ensembl	human	known	74_37	missense	8.51	42	4	SNP	1.000	T	T	50805745	G	T	50805745	3	4	154	1	0	0	0	0	1	0	0	0	15835	1281	45	3	897	3	TFAP2B	6	50805745	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	980668	50805745	120309322	70	39260											
COL9A1	1297	genome.wustl.edu	37	chr6	70978510	70978510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagttattctcttaccctCatgcctggtaggcctggata	8	13	10	10	0	2	0	1	0	1	0	3	2	2	2	3	4	2	2	3	4	5	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:70978510C>T	ENST00000357250.6	-	17	1442	c.1284G>A	c.(1282-1284)atG>atA	p.M428I	COL9A1_ENST00000370499.4_Missense_Mutation_p.M185I|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.M185I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	428	Collagen-like 4.|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)			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						CTCTTACCCTCATGCCTGGTA	0.473																																																	0													95	96	96					6																	70978510		2203	4300	6503	SO:0001583	missense	0				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.1284G>A	6.37:g.70978510C>T	ENSP00000349790:p.Met428Ile		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.M428I	ENST00000357250.6	37	c.1284	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657089	0.47467	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93426	-3.06;-3.22;-3.06	5.54	5.54	0.83059	.	0.108034	0.85682	D	0.000000	T	0.76821	0.4041	N	0.03050	-0.425	0.54753	D	0.999989	B;B;B	0.29232	0.238;0.134;0.201	B;B;B	0.31245	0.126;0.027;0.055	T	0.77099	-0.2713	10	0.19147	T	0.46	.	16.4154	0.83732	0.0:1.0:0.0:0.0	.	428;185;1	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	I	428;185;185	ENSP00000349790:M428I;ENSP00000315252:M185I;ENSP00000359530:M185I	ENSP00000315252:M185I	M	-	3	0	COL9A1	71035231	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.854000	0.69503	2.598000	0.87819	0.650000	0.86243	ATG	COL9A1	-	pfam_Collagen	ENSG00000112280		0.473	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2		0	13	0	C			70978510	-1			no_errors	ENST00000357250	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	70978510	C	T	70978510	3	4	154	1	0	0	0	0	1	0	0	0	3714	826	29	3	1569	3	COL9A1	6	70978510	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	20172765	70978510	100136557	71	39261											
FAM135A	57579	genome.wustl.edu	37	chr6	71245981	71245981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctttattggacattcgttGggcaatttaataattcgttc	10	17	8	6	2	0	0	0	0	0	0	3	1	0	1	0	2	1	4	0	2	4	10			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:71245981G>T	ENST00000418814.2	+	19	4598	c.3984G>T	c.(3982-3984)ttG>ttT	p.L1328F	FAM135A_ENST00000370479.3_Missense_Mutation_p.L1115F|FAM135A_ENST00000505868.1_Missense_Mutation_p.L1328F|FAM135A_ENST00000457062.2_Missense_Mutation_p.L1115F|FAM135A_ENST00000505769.1_Missense_Mutation_p.L908F|FAM135A_ENST00000361499.3_Missense_Mutation_p.L1132F	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1328										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GACATTCGTTGGGCAATTTAA	0.328																																																	0													116	118	118					6																	71245981		2202	4299	6501	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3984G>T	6.37:g.71245981G>T	ENSP00000410768:p.Leu1328Phe		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.L1328F	ENST00000418814.2	37	c.3984	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459928	0.63401	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	5.51	3.71	0.42584	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.64402	D	0.000001	T	0.67562	0.2906	M	0.85542	2.76	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	0.97110	0.998;0.999;1.0;0.999;0.999	T	0.71457	-0.4587	10	0.72032	D	0.01	.	8.2297	0.31590	0.3085:0.0:0.6915:0.0	.	908;1328;1328;1132;1115	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	F	1328;1115;908;1115;1132;1328	ENSP00000410768:L1328F;ENSP00000359510:L1115F;ENSP00000423785:L908F;ENSP00000409201:L1115F;ENSP00000354913:L1132F;ENSP00000423307:L1328F	ENSP00000354913:L1132F	L	+	3	2	FAM135A	71302702	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	3.361000	0.52306	0.662000	0.31006	0.585000	0.79938	TTG	FAM135A	-	pfam_DUF676_lipase-like,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	ENSG00000082269		0.328	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2	-	0	47	0	G	NM_020819		71245981	1	tier1	-	no_errors	ENST00000418814	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	71245981	G	T	71245981	3	4	154	1	0	0	0	0	1	0	0	0	5467	1339	47	3	4128	3	FAM135A	6	71245981	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	267471	71245981	99869086	72	39262											
MDN1	23195	genome.wustl.edu	37	chr6	90398430	90398430	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatagggcccatcaggtttCaccatcaggtctgagggtgc	8	10	12	11	0	5	1	4	1	1	0	5	1	5	1	2	4	1	1	2	4	1	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:90398430C>T	ENST00000369393.3	-	66	11236	c.11121G>A	c.(11119-11121)gtG>gtA	p.V3707V	MDN1_ENST00000428876.1_Silent_p.V3707V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3707					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)		CATCAGGTTTCACCATCAGGT	0.522																																																	0													90	73	79					6																	90398430		2203	4300	6503	SO:0001819	synonymous_variant	0			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.11121G>A	6.37:g.90398430C>T			O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.V3707	ENST00000369393.3	37	c.11121	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin	ENSG00000112159		0.522	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	21	0	C			90398430	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.326	T	T	90398430	C	T	90398430	2	4	154	1	0	0	0	0	0	0	0	1	9453	813	29	3		3	MDN1	6	90398430	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	19152449	90398430	80716637	73	39263											
MDN1	23195	genome.wustl.edu	37	chr6	90453354	90453354	+	Missense_Mutation	SNP	T	T	C	0	1	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	caggaagtctgatgtctccaTgtgtaagtggcagctgacag	10	10	13	8	0	2	2	0	2	2	0	3	3	2	3	1	2	1	3	1	2	2	1	rs534022191	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:90453354T>C	ENST00000369393.3	-	30	4373	c.4258A>G	c.(4258-4260)Atg>Gtg	p.M1420V	MDN1_ENST00000428876.1_Missense_Mutation_p.M1420V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1420					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)		GATGTCTCCATGTGTAAGTGG	0.453													T|||	14	0.00279553	0	0	5008	,	,		19264	0		0	False		,,,				2504	0.0143																0													121	116	118					6																	90453354		2203	4300	6503	SO:0001583	missense	0			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.4258A>G	6.37:g.90453354T>C	ENSP00000358400:p.Met1420Val		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.M1420V	ENST00000369393.3	37	c.4258	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723268	0.48728	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.56444	0.46;0.46	5.57	5.57	0.84162	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	L	0.56396	1.775	0.45354	D	0.998346	P	0.39060	0.657	P	0.45232	0.474	T	0.49103	-0.8974	10	0.42905	T	0.14	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	1420	Q9NU22	MDN1_HUMAN	V	1420	ENSP00000358400:M1420V;ENSP00000413970:M1420V	ENSP00000358400:M1420V	M	-	1	0	MDN1	90510075	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.157000	0.71846	2.114000	0.64651	0.460000	0.39030	ATG	MDN1	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin	ENSG00000112159		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2		0	50	0	T			90453354	-1			no_errors	ENST00000369393	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	C	C	90453354	T	C	90453354	3	2	154	1	0	0	0	0	1	0	0	0	9453	1464	51	4	12824	4	MDN1	6	90453354	Missense_Mutation	SNP	T	TCGA-S8-A6BW-01A-11D-A31U-09	54924	90453354	80661713	74	39264											
MYB	4602	genome.wustl.edu	37	chr6	135515008	135515008	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttccataccctgtagcgttAcatgtaaatatagtcaatgt	12	14	7	8	1	1	0	1	0	0	0	2	0	2	0	2	0	3	4	2	0	8	7			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:135515008A>C	ENST00000367814.4	+	7	981	c.795A>C	c.(793-795)ttA>ttC	p.L265F	MYB_ENST00000528774.1_Missense_Mutation_p.L265F|MYB_ENST00000442647.2_Missense_Mutation_p.L265F|MYB_ENST00000534044.1_Missense_Mutation_p.L265F|MYB_ENST00000316528.8_Missense_Mutation_p.L265F|MYB_ENST00000420123.2_Missense_Mutation_p.L241F|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.L265F|MYB_ENST00000533624.1_Missense_Mutation_p.L265F|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000527615.1_Missense_Mutation_p.L265F|MYB_ENST00000525369.1_Missense_Mutation_p.L265F|MYB_ENST00000341911.5_Missense_Mutation_p.L265F	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	265					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTGTAGCGTTACATGTAAATA	0.443			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													222	196	205					6																	135515008		2203	4300	6503	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.795A>C	6.37:g.135515008A>C	ENSP00000356788:p.Leu265Phe		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L265F	ENST00000367814.4	37	c.795	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104070	0.76983	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.34667	2.6;2.11;2.1;2.12;1.35;1.85;2.6;2.6;1.78;2.2	5.23	2.89	0.33648	.	0.071359	0.56097	D	0.000027	T	0.37376	0.1001	M	0.67953	2.075	0.52501	D	0.999957	D;D;B;D;P;D;D;D;D;D	0.89917	0.998;0.999;0.034;1.0;0.853;0.964;0.999;1.0;0.998;1.0	D;D;B;D;P;P;D;D;D;D	0.91635	0.99;0.996;0.02;0.998;0.473;0.647;0.972;0.999;0.94;0.997	T	0.37709	-0.9694	10	0.54805	T	0.06	-4.9594	2.493	0.04615	0.346:0.0:0.4099:0.2441	.	265;265;241;265;265;265;265;265;265;265	E9PI07;E9PLZ5;E9PMQ0;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;.;MYB_HUMAN;.	F	265;265;265;265;265;265;241;265;265;265;265;265;219	ENSP00000339992:L265F;ENSP00000410825:L265F;ENSP00000326328:L265F;ENSP00000356788:L265F;ENSP00000433227:L265F;ENSP00000435938:L265F;ENSP00000434723:L265F;ENSP00000432851:L265F;ENSP00000435055:L265F;ENSP00000436605:L265F	ENSP00000237302:L265F	L	+	3	2	MYB	135556701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.025000	0.49681	0.842000	0.35045	0.528000	0.53228	TTA	MYB	-	NULL	ENSG00000118513		0.443	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	-	0	67	0	A			135515008	1	tier1	-	no_errors	ENST00000341911	ensembl	human	known	74_37	missense	28.57	40	16	SNP	1.000	C	C	135515008	A	C	135515008	3	2	154	1	0	0	0	0	1	0	0	0	10045	388	14	4	821	4	MYB	6	135515008	Missense_Mutation	SNP	A	TCGA-S8-A6BW-01A-11D-A31U-09	45061654	135515008	35600059	75	39265											
MLLT4	4301	genome.wustl.edu	37	chr6	168363200	168363200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcgaggcaagaggaagagCgccggcggcaggaggaggag	12	0	22	7	4	0	2	0	0	0	2	0	8	0	6	1	7	2	2	1	7	2	0			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:168363200C>A	ENST00000447894.2	+	30	4900	c.4900C>A	c.(4900-4902)Cgc>Agc	p.R1634S	MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646S|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641S|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617S|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632S|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1634S|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1634					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)	p.R1634C(1)		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)		AGAGGAAGAGCGCCGGCGGCA	0.547			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	1	Substitution - Missense(1)	kidney(1)											89	112	104					6																	168363200		2029	4170	6199	SO:0001583	missense	0			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.4900C>A	6.37:g.168363200C>A	ENSP00000404595:p.Arg1634Ser		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.R1634S	ENST00000447894.2	37	c.4900		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.167|9.167	1.020196|1.020196	0.19433|0.19433	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000507704;ENST00000476946	T;T;T;T;T;T;T|.	0.57595|.	3.7;0.74;3.62;0.74;0.74;0.39;0.74|.	4.06|4.06	3.16|3.16	0.36331|0.36331	.|.	0.083308|.	0.45606|.	D|.	0.000348|.	T|T	0.43612|0.43612	0.1255|0.1255	L|L	0.57536|0.57536	1.79|1.79	0.31982|0.31982	N|N	0.605771|0.605771	B;B;B|.	0.25105|.	0.072;0.118;0.05|.	B;B;B|.	0.42214|.	0.06;0.127;0.38|.	T|T	0.36480|0.36480	-0.9746|-0.9746	10|5	0.62326|.	D|.	0.03|.	-3.5836|-3.5836	13.5002|13.5002	0.61449|0.61449	0.0:0.8355:0.1645:0.0|0.0:0.8355:0.1645:0.0	.|.	1634;1644;1632|.	P55196;P55196-5;P55196-6|.	AFAD_HUMAN;.;.|.	S|R	1646;1641;1632;1634;1617;1646;1644;1634|122;109	ENSP00000341118:R1646S;ENSP00000252692:R1641S;ENSP00000375956:R1632S;ENSP00000355771:R1634S;ENSP00000375960:R1617S;ENSP00000383623:R1644S;ENSP00000404595:R1634S|.	ENSP00000345834:R1646S|.	R|S	+|+	1|3	0|2	MLLT4|MLLT4	168106049|168106049	1.000000|1.000000	0.71417|0.71417	0.502000|0.502000	0.27614|0.27614	0.018000|0.018000	0.09664|0.09664	2.359000|2.359000	0.44142|0.44142	0.771000|0.771000	0.33359|0.33359	0.591000|0.591000	0.81541|0.81541	CGC|AGC	MLLT4	-	NULL	ENSG00000130396		0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1		0	41	0	C	NM_005936		168363200	1			no_errors	ENST00000366806	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.999	A	A	168363200	C	A	168363200	3	1	154	1	0	0	0	0	1	0	0	0	9667	768	27	2	5130	2	MLLT4	6	168363200	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	32848192	168363200	2751867	76	39266											
INHBA	3624	genome.wustl.edu	37	chr7	41730069	41730069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttaggaagagccagacttCtgcacgctccaccactgaca	11	9	8	13	1	1	3	0	1	1	2	2	4	2	4	3	1	2	2	3	1	2	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:41730069C>T	ENST00000242208.4	-	3	706	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.E154K	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	154					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGCCAGACTTCTGCACGCTCC	0.542										TSP Lung(11;0.080)																																							0													85	79	81					7																	41730069		2203	4300	6503	SO:0001583	missense	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.460G>A	7.37:g.41730069C>T	ENSP00000242208:p.Glu154Lys		Q14599	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.E154K	ENST00000242208.4	37	c.460	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	.	20.1	3.940399	0.73557	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.73258	-0.73;-0.73	6.06	5.17	0.71159	Transforming growth factor-beta, N-terminal (1);	0.093390	0.85682	D	0.000000	T	0.71307	0.3324	L	0.40543	1.245	0.43652	D	0.996063	B	0.29671	0.254	B	0.42625	0.393	T	0.68232	-0.5463	10	0.33940	T	0.23	-16.2856	16.7133	0.85391	0.1305:0.8695:0.0:0.0	.	154	P08476	INHBA_HUMAN	K	154	ENSP00000242208:E154K;ENSP00000397197:E154K	ENSP00000242208:E154K	E	-	1	0	INHBA	41696594	0.999000	0.42202	0.296000	0.24974	0.990000	0.78478	3.767000	0.55288	1.551000	0.49450	0.655000	0.94253	GAA	INHBA	-	pfam_TGF-b_N	ENSG00000122641		0.542	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	-	0	20	0	C			41730069	-1	tier1	-	no_errors	ENST00000242208	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.955	T	T	41730069	C	T	41730069	3	4	154	1	0	0	0	0	1	0	0	0	7768	922	32	3	824	3	INHBA	7	41730069	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09		41730069	117408594	77	39267											
GLI3	2737	genome.wustl.edu	37	chr7	42018223	42018223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtgaggcttctcgcccGtgtgtcttctcatatgcact	5	16	9	11	2	3	1	1	1	3	0	5	1	3	1	1	1	1	2	1	1	1	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:42018223G>A	ENST00000395925.3	-	11	1706	c.1622C>T	c.(1621-1623)aCg>aTg	p.T541M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	541					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						CTTCTCGCCCGTGTGTCTTCT	0.512									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													115	103	107					7																	42018223		2203	4300	6503	SO:0001583	missense	0	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.1622C>T	7.37:g.42018223G>A	ENSP00000379258:p.Thr541Met		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T541M	ENST00000395925.3	37	c.1622	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	G	31	5.092032	0.94149	.	.	ENSG00000106571	ENST00000395925	D	0.91407	-2.84	5.84	5.84	0.93424	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95118	0.8244	10	0.87932	D	0	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	541	P10071	GLI3_HUMAN	M	541	ENSP00000379258:T541M	ENSP00000379258:T541M	T	-	2	0	GLI3	41984748	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	9.807000	0.99171	2.763000	0.94921	0.650000	0.86243	ACG	GLI3	-	pfscan_Znf_C2H2	ENSG00000106571		0.512	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0	47	0	G	NM_000168		42018223	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	42018223	G	A	42018223	3	1	154	1	0	0	0	0	1	0	0	0	6465	1145	40	1	3140	1	GLI3	7	42018223	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	288154	42018223	117120440	78	39268											
COBL	23242	genome.wustl.edu	37	chr7	51096641	51096641	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatctctgtcgtaacatcGcatctctgactttggaggaa	10	12	8	11	2	2	1	0	1	2	0	6	3	2	3	0	2	1	2	0	2	2	2	rs372919855		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:51096641G>A	ENST00000265136.7	-	10	2317	c.2152C>T	c.(2152-2154)Cga>Tga	p.R718*	COBL_ENST00000395542.2_Nonsense_Mutation_p.R800*	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	718					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.R718*(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGTAACATCGCATCTCTGAC	0.507																																					NSCLC(189;2119 2138 12223 30818 34679)												1	Substitution - Nonsense(1)	large_intestine(1)						G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	120	99	106		2152	2	0.4	7		106	0,8600		0,0,4300	no	stop-gained	COBL	NM_015198.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		718/1262	51096641	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2152C>T	7.37:g.51096641G>A	ENSP00000265136:p.Arg718*		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Nonsense_Mutation	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R800*	ENST00000265136.7	37	c.2398	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878423	0.91740	2.27E-4	0.0	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	.	.	.	5.83	2.05	0.26809	.	0.256704	0.28062	N	0.016752	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0117	0.58735	0.0:0.0:0.4063:0.5937	.	.	.	.	X	718;610;603;800	.	ENSP00000265136:R718X	R	-	1	2	COBL	51064135	0.731000	0.28111	0.371000	0.25978	0.392000	0.30506	1.452000	0.35156	0.102000	0.17638	-0.262000	0.10625	CGA	COBL	-	NULL	ENSG00000106078		0.507	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1		0	18	0	G	NM_015198		51096641	-1			no_errors	ENST00000395542	ensembl	human	known	74_37	nonsense	5.88	48	3	SNP	0.735	A	A	51096641	G	A	51096641	4	1	154	1	0	0	0	0	0	1	0	0	3660	1095	38	1	1649	1	COBL	7	51096641	Nonsense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	9078418	51096641	108042022	79	39269											
BRI3	55971	genome.wustl.edu	37	chr7	97921978	97921978	+	3'UTR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcatcctggctttacacGtatcctttgagagtctgtac	8	14	9	10	1	2	1	1	1	1	1	4	2	4	1	2	2	2	3	2	2	3	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:97921978G>T	ENST00000005260.8	-	0	2606				BRI3_ENST00000539286.1_Silent_p.T91T	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1						filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTTTACACGTATCCTTTGA	0.527																																																	0													126	118	121					7																	97921978		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.*855C>A	7.37:g.97921978G>T			A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	pfam_Brain_I3	p.T91	ENST00000005260.8	37	c.273	CCDS34687.1	7																																																																																			BRI3	-	NULL	ENSG00000164713		0.527	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3	HGNC	protein_coding	OTTHUMT00000334681.1	-	0	30	0	G	NM_018842		97921978	1	tier1	-	no_errors	ENST00000539286	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.000	T	T	97921978	G	T	97921978	1	4	154	0	1	0	0	0	0	0	0	0	1516	1132	40	2		2	BRI3	7	97921978	3'UTR	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	46825337	97921978	61216685	80	39270											
PTCD1	26024	genome.wustl.edu	37	chr7	99021462	99021462	+	Frame_Shift_Del	DEL	G	G	-																															ggatgaccacttcgttcaccGggaccctgttctgcttcatg																								rs374595581		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:99021462delG	ENST00000292478.4	-	7	2106	c.1856delC	c.(1855-1857)ccgfs	p.P619fs	PTCD1_ENST00000555673.1_Frame_Shift_Del_p.P668fs|ATP5J2-PTCD1_ENST00000413834.1_Frame_Shift_Del_p.P668fs	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	619					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TTCGTTCACCGGGACCCTGTT	0.542																																																	0													224	179	195					7																	99021462		2203	4300	6503	SO:0001589	frameshift_variant	0			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1856delC	7.37:g.99021462delG	ENSP00000292478:p.Pro619fs		Q3ZB78|Q66K60|Q9UDV2	Frame_Shift_Del	DEL	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.P668fs	ENST00000292478.4	37	c.2003	CCDS34691.1	7																																																																																			ATP5J2-PTCD1	-	NULL	ENSG00000248919		0.542	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5J2-PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1		0	59	0	G	NM_015545		99021462	-1			no_errors	ENST00000413834	ensembl	human	known	74_37	frame_shift_del	8.25	89	8	DEL	0.938	0	-	99021462	G	-	99021462	7	5	154	1	0	1	0	1	0	0	0	0	12769	1116	39	0	254	0	PTCD1	7	99021462	Frame_Shift_Del	DEL	G	TCGA-S8-A6BW-01A-11D-A31U-09	1099484	99021462	60117201	81	39271											
FSCN3	29999	genome.wustl.edu	37	chr7	127238588	127238589	+	Frame_Shift_Ins	INS	-	-	G																															gatcatcctgcagtcctgcaINSgggggcgcttcctgggcatt																								rs139747555		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:127238588_127238589insG	ENST00000265825.5	+	4	1279_1280	c.1060_1061insG	c.(1060-1062)aggfs	p.R354fs	FSCN3_ENST00000420086.2_Frame_Shift_Ins_p.R220fs	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	354						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGTCCTGCAGGGGGCGCTTC	0.594																																																	0																																										SO:0001589	frameshift_variant	0				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1065dupG	7.37:g.127238593_127238593dupG	ENSP00000265825:p.Arg354fs		A4D0Z2|A6NLL7|B2RA62|B4DU68	Frame_Shift_Ins	INS	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.R356fs	ENST00000265825.5	37	c.1060_1061	CCDS34746.1	7																																																																																			FSCN3	-	pfam_Fascin-domain,superfamily_Actin_cross-linking	ENSG00000106328		0.594	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN3	HGNC	protein_coding	OTTHUMT00000059256.2		0	23	0	-	NM_020369		127238589	1	tier1		no_errors	ENST00000265825	ensembl	human	known	74_37	frame_shift_ins	6.67	28	2	INS	0.039:0.000	G	G	127238589	-	G	127238588	7	5	154	1	0	1	1	0	0	0	0	0	6093	179	7	0	1074	0	FSCN3	7	127238588	Frame_Shift_Ins	INS	-	TCGA-S8-A6BW-01A-11D-A31U-09	28217126	127238588	31900075	82	39272											
CHPF2	54480	genome.wustl.edu	37	chr7	150935679	150935679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaagaactctaccaccGctgccgcctcagcaacctgg	10	6	9	16	2	2	2	1	1	1	1	2	2	2	2	5	1	5	2	5	1	4	1	rs578130308	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:150935679G>A	ENST00000035307.2	+	4	3744	c.2231G>A	c.(2230-2232)cGc>cAc	p.R744H	RP4-548D19.3_ENST00000607902.1_RNA|MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.R736H	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	744					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						CTCTACCACCGCTGCCGCCTC	0.642													G|||	3	0.000599042	0	0	5008	,	,		14037	0		0	False		,,,				2504	0.0031																0													24	24	24					7																	150935679		2202	4300	6502	SO:0001583	missense	0			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.2231G>A	7.37:g.150935679G>A	ENSP00000035307:p.Arg744His		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.R744H	ENST00000035307.2	37	c.2231	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893254	0.91889	.	.	ENSG00000033100	ENST00000495645;ENST00000035307	T;T	0.18338	2.22;2.22	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.83275	0.784;0.996	T	0.34976	-0.9807	10	0.52906	T	0.07	-18.1475	17.0841	0.86606	0.0:0.0:1.0:0.0	.	744;736	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	H	736;744	ENSP00000418914:R736H;ENSP00000035307:R744H	ENSP00000035307:R744H	R	+	2	0	CHPF2	150566612	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.492000	0.84095	0.655000	0.94253	CGC	CHPF2	-	pfam_Chond_GalNAc	ENSG00000033100		0.642	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2		0	24	0	G	NM_019015		150935679	1			no_errors	ENST00000035307	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	A	A	150935679	G	A	150935679	3	1	154	1	0	0	0	0	1	0	0	0	3376	1087	38	1	2245	1	CHPF2	7	150935679	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	23697091	150935679	8202984	83	39273											
PSD3	23362	genome.wustl.edu	37	chr8	18490287	18490287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttctcctcagtactttctGagggagacttttttttctct	5	20	6	10	0	4	2	1	1	3	1	6	3	4	2	1	1	1	1	1	1	1	7			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:18490287G>A	ENST00000327040.8	-	11	2348	c.2246C>T	c.(2245-2247)tCa>tTa	p.S749L	PSD3_ENST00000523619.1_Missense_Mutation_p.S684L|PSD3_ENST00000440756.2_Missense_Mutation_p.S751L|PSD3_ENST00000428502.2_Missense_Mutation_p.S78L|PSD3_ENST00000286485.8_Missense_Mutation_p.S215L	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	750					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)		AGTACTTTCTGAGGGAGACTT	0.373																																																	0													151	124	133					8																	18490287		2203	4300	6503	SO:0001583	missense	0			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.2246C>T	8.37:g.18490287G>A	ENSP00000324127:p.Ser749Leu		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.S751L	ENST00000327040.8	37	c.2252	CCDS43720.1	8	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769086	0.69992	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.19938	2.76;2.74;2.11;2.75	5.93	5.93	0.95920	.	0.000000	0.45606	U	0.000356	T	0.32406	0.0828	M	0.72118	2.19	0.49687	D	0.999817	B;B;B;B	0.29835	0.125;0.243;0.16;0.258	B;B;B;B	0.35510	0.118;0.168;0.204;0.126	T	0.05257	-1.0896	10	0.62326	D	0.03	.	17.8445	0.88725	0.0:0.0:1.0:0.0	.	749;750;215;78	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	L	749;751;78;215;78;684	ENSP00000324127:S749L;ENSP00000401704:S751L;ENSP00000286485:S215L;ENSP00000430640:S684L	ENSP00000286485:S215L	S	-	2	0	PSD3	18534567	1.000000	0.71417	0.574000	0.28523	0.970000	0.65996	6.038000	0.70964	2.808000	0.96608	0.655000	0.94253	TCA	PSD3	-	NULL	ENSG00000156011		0.373	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1	-	0	57	0	G	NM_015310		18490287	-1	tier1	-	no_errors	ENST00000440756	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.980	A	A	18490287	G	A	18490287	3	1	154	1	0	0	0	0	1	0	0	0	12690	1294	45	3	921	3	PSD3	8	18490287	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09		18490287	127873735	84	39274											
CHRNB3	1142	genome.wustl.edu	37	chr8	42587155	42587155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagacgcctgcctttattCtataccctctttctcatcat	7	16	4	14	1	4	1	2	1	3	1	5	2	4	1	3	0	2	0	3	0	3	6			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:42587155C>A	ENST00000289957.2	+	5	833	c.705C>A	c.(703-705)ttC>ttA	p.F235L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	235					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)	TGCCTTTATTCTATACCCTCT	0.458																																																	0													74	80	78					8																	42587155		2203	4300	6503	SO:0001583	missense	0			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.705C>A	8.37:g.42587155C>A	ENSP00000289957:p.Phe235Leu		Q15827	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F235L	ENST00000289957.2	37	c.705	CCDS6134.1	8	.	.	.	.	.	.	.	.	.	.	c	15.69	2.909424	0.52439	.	.	ENSG00000147432	ENST00000289957	T	0.76186	-1.0	5.72	0.0638	0.14350	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.83635	0.5297	M	0.84082	2.675	0.58432	D	0.999996	D	0.65815	0.995	D	0.66847	0.947	T	0.82514	-0.0419	10	0.87932	D	0	.	10.7613	0.46266	0.0:0.4377:0.0:0.5623	.	235	Q05901	ACHB3_HUMAN	L	235	ENSP00000289957:F235L	ENSP00000289957:F235L	F	+	3	2	CHRNB3	42706312	0.962000	0.33011	0.837000	0.33122	0.287000	0.27160	0.121000	0.15667	-0.307000	0.08804	-0.484000	0.04775	TTC	CHRNB3	-	superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000147432		0.458	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB3	HGNC	protein_coding	OTTHUMT00000383055.1	-	0	60	0	C			42587155	1	tier1	-	no_errors	ENST00000289957	ensembl	human	known	74_37	missense	7.82	280	24	SNP	1.000	A	A	42587155	C	A	42587155	3	1	154	1	0	0	0	0	1	0	0	0	3399	912	32	3	723	3	CHRNB3	8	42587155	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	24096868	42587155	103776867	85	39275											
PLAG1	5324	genome.wustl.edu	37	chr8	57079116	57079116	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttttggatagggagaggtCtcctgcaccatcatctaggg	8	11	13	9	0	3	1	1	0	2	1	4	3	3	2	2	4	1	2	2	4	2	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:57079116C>G	ENST00000316981.3	-	5	1668	c.1189G>C	c.(1189-1191)Gac>Cac	p.D397H	PLAG1_ENST00000429357.2_Missense_Mutation_p.D397H|PLAG1_ENST00000423799.2_Missense_Mutation_p.D315H	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	397	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				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)			AGGGAGAGGTCTCCTGCACCA	0.463			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	0													100	100	100					8																	57079116		2203	4300	6503	SO:0001583	missense	0			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.1189G>C	8.37:g.57079116C>G	ENSP00000325546:p.Asp397His		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D397H	ENST00000316981.3	37	c.1189	CCDS6165.1	8	.	.	.	.	.	.	.	.	.	.	C	9.118	1.008156	0.19199	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.12774	2.65;3.35;2.65	5.68	5.68	0.88126	.	0.277608	0.39985	N	0.001204	T	0.09992	0.0245	N	0.19112	0.55	0.53005	D	0.999961	P	0.44309	0.832	B	0.33295	0.161	T	0.07271	-1.0781	10	0.59425	D	0.04	-13.8647	18.7746	0.91907	0.0:1.0:0.0:0.0	.	397	Q6DJT9	PLAG1_HUMAN	H	397;315;397	ENSP00000325546:D397H;ENSP00000404067:D315H;ENSP00000416537:D397H	ENSP00000325546:D397H	D	-	1	0	PLAG1	57241670	1.000000	0.71417	0.982000	0.44146	0.963000	0.63663	7.298000	0.78815	2.675000	0.91044	0.467000	0.42956	GAC	PLAG1	-	NULL	ENSG00000181690		0.463	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLAG1	HGNC	protein_coding	OTTHUMT00000378212.1	-	0	34	0	C	NM_002655		57079116	-1	tier1	-	no_errors	ENST00000316981	ensembl	human	known	74_37	missense	53.49	20	23	SNP	1.000	G	G	57079116	C	G	57079116	3	3	154	1	0	0	0	0	1	0	0	0	12057	913	32	5	317	5	PLAG1	8	57079116	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	14491961	57079116	89284906	86	39276											
PENK	5179	genome.wustl.edu	37	chr8	57358447	57358447	+	Silent	SNP	C	C	T	0	0	0	1	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	tcctggctgcattcggcccgCacggtcgccaggagcccggg	4	6	15	16	5	0	0	0	0	0	0	3	1	1	1	4	5	2	3	4	5	0	1	rs149051933	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:57358447C>T	ENST00000314922.3	-	1	142	c.66G>A	c.(64-66)gtG>gtA	p.V22V	PENK_ENST00000451791.2_Silent_p.V22V|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000523051.1_Silent_p.V22V|PENK_ENST00000523274.1_5'Flank|PENK_ENST00000518770.1_Silent_p.V22V	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	22					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ATTCGGCCCGCACGGTCGCCA	0.672																																																	0								C	,	0,4402		0,0,2201	34	34	34		66,66	0	0	8	dbSNP_134	34	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous,coding-synonymous	PENK	NM_001135690.1,NM_006211.3	,	0,4,6496	TT,TC,CC		0.0465,0.0,0.0308	,	22/268,22/268	57358447	4,12996	2201	4299	6500	SO:0001819	synonymous_variant	0				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.66G>A	8.37:g.57358447C>T			B2RC23|Q6FHC6|Q6FHE6	Silent	SNP	pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept	p.V22	ENST00000314922.3	37	c.66	CCDS6168.1	8																																																																																			PENK	-	pfam_Opioid_neupept,prints_Proenkphlin_A	ENSG00000181195		0.672	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PENK	HGNC	protein_coding	OTTHUMT00000378645.1	-	0	29	0	C			57358447	-1	tier1	rs149051933	no_errors	ENST00000314922	ensembl	human	known	74_37	silent	47.83	12	11	SNP	0.000	T	T	57358447	C	T	57358447	2	4	154	1	0	0	0	0	0	0	0	1	11766	697	25	3		3	PENK	8	57358447	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	279331	57358447	89005575	87	39277											
CHD7	55636	genome.wustl.edu	37	chr8	61777889	61777889	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccctgctgctgtgctgccCctgatgctgccaggaatggc	6	9	12	14	0	0	1	0	1	0	0	0	2	0	2	4	2	7	4	4	2	2	0			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:61777889C>G	ENST00000423902.2	+	38	8870	c.8391C>G	c.(8389-8391)ccC>ccG	p.P2797P	CHD7_ENST00000524602.1_Silent_p.P748P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2797					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)			CTGTGCTGCCCCTGATGCTGC	0.622																																																	0													28	29	29					8																	61777889		2021	4190	6211	SO:0001819	synonymous_variant	0			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.8391C>G	8.37:g.61777889C>G			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P2797	ENST00000423902.2	37	c.8391	CCDS47865.1	8																																																																																			CHD7	-	NULL	ENSG00000171316		0.622	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0	18	0	C	XM_098762		61777889	1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	silent	35.29	11	6	SNP	1.000	G	G	61777889	C	G	61777889	2	3	154	1	0	0	0	0	0	0	0	1	3337	610	22	5		5	CHD7	8	61777889	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	4419442	61777889	84586133	88	39278											
SLC10A5	347051	genome.wustl.edu	37	chr8	82606673	82606673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactgtgtaactgccccaaGaattactggcaaaggtctct	13	10	8	10	0	1	1	0	0	1	1	2	1	1	1	2	2	4	2	2	2	6	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:82606673G>A	ENST00000518568.1	-	1	1736	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	179						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ACTGCCCCAAGAATTACTGGC	0.393																																																	0													50	55	53					8																	82606673		2203	4300	6503	SO:0001583	missense	0				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.535C>T	8.37:g.82606673G>A	ENSP00000428612:p.Leu179Phe		B2RN26	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.L179F	ENST00000518568.1	37	c.535	CCDS34915.1	8	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813867	0.70912	.	.	ENSG00000253598	ENST00000518568	T	0.15372	2.43	5.98	4.17	0.49024	.	0.000000	0.45361	D	0.000377	T	0.34454	0.0898	M	0.64997	1.995	0.40390	D	0.979533	D	0.76494	0.999	D	0.69479	0.964	T	0.06698	-1.0812	10	0.62326	D	0.03	-14.9434	9.2743	0.37690	0.0758:0.0:0.779:0.1452	.	179	Q5PT55	NTCP5_HUMAN	F	179	ENSP00000428612:L179F	ENSP00000428612:L179F	L	-	1	0	SLC10A5	82769228	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	4.026000	0.57232	0.834000	0.34852	0.563000	0.77884	CTT	SLC10A5	-	pfam_BilAc/Na_symport	ENSG00000253598		0.393	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A5	HGNC	protein_coding	OTTHUMT00000379736.1	-	0	15	0	G	XM_294493		82606673	-1	tier1	-	no_errors	ENST00000518568	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	A	A	82606673	G	A	82606673	3	1	154	1	0	0	0	0	1	0	0	0	14422	942	33	3	783	3	SLC10A5	8	82606673	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	20828784	82606673	63757349	89	39279											
ADCK5	203054	genome.wustl.edu	37	chr8	145616197	145616197	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccacctgcttccccccGagtatacccggaccctgcgc	7	7	7	20	3	1	0	1	0	0	0	2	2	2	1	7	1	4	2	7	1	3	3	rs370821655		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:145616197G>T	ENST00000308860.6	+	5	528	c.484G>T	c.(484-486)Gag>Tag	p.E162*	ADCK5_ENST00000526231.2_3'UTR|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	162						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)			GCTTCCCCCCGAGTATACCCG	0.692																																																	0													37	40	39					8																	145616197		2201	4299	6500	SO:0001587	stop_gained	0			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.484G>T	8.37:g.145616197G>T	ENSP00000310547:p.Glu162*		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Nonsense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.E162*	ENST00000308860.6	37	c.484	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744314	0.30865	.	.	ENSG00000173137	ENST00000308860	.	.	.	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-37.4333	13.5137	0.61528	0.0:0.0:1.0:0.0	.	.	.	.	X	162	.	ENSP00000310547:E162X	E	+	1	0	ADCK5	145587005	1.000000	0.71417	0.908000	0.35775	0.012000	0.07955	8.839000	0.92120	2.234000	0.73211	0.563000	0.77884	GAG	ADCK5	-	NULL	ENSG00000173137		0.692	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2		0	36	0	G	NM_174922		145616197	1			no_errors	ENST00000308860	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.998	T	T	145616197	G	T	145616197	4	4	154	1	0	0	0	0	0	1	0	0	291	1059	37	2	502	2	ADCK5	8	145616197	Nonsense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	63009524	145616197	747825	90	39280											
PTPRD	5789	genome.wustl.edu	37	chr9	8484252	8484252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaccctgtgctgcagccCaccagcactgtttccacgat	7	9	9	16	2	0	1	0	1	0	0	1	2	1	1	4	0	4	4	4	0	0	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:8484252C>T	ENST00000381196.4	-	27	3823	c.3280G>A	c.(3280-3282)Ggg>Agg	p.G1094R	PTPRD_ENST00000360074.4_Missense_Mutation_p.G1081R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1072R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G683R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G683R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G673R|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1094R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1094R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G673R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G680R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G680R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1094	Fibronectin type-III 8. {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)		TGCTGCAGCCCACCAGCACTG	0.483										TSP Lung(15;0.13)																																							0													143	118	126					9																	8484252		2203	4300	6503	SO:0001583	missense	0			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.3280G>A	9.37:g.8484252C>T	ENSP00000370593:p.Gly1094Arg		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.G1094R	ENST00000381196.4	37	c.3280	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	30	5.053649	0.93793	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16	6.06	6.06	0.98353	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;P;D;P	0.89917	1.0;1.0;0.999;1.0;0.997;1.0;0.826;1.0;0.497	D;D;D;D;D;D;B;D;B	0.97110	1.0;0.989;0.963;0.999;0.995;1.0;0.347;0.993;0.134	T	0.74160	-0.3755	9	.	.	.	.	20.2312	0.98350	0.0:1.0:0.0:0.0	.	673;678;683;683;680;680;1081;1094;1094	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	1094;1094;1081;1072;683;673;680;680;1094;683;673	ENSP00000370593:G1094R;ENSP00000348812:G1094R;ENSP00000353187:G1081R;ENSP00000351293:G1072R;ENSP00000347373:G683R;ENSP00000380741:G673R;ENSP00000380735:G680R;ENSP00000440515:G680R;ENSP00000438164:G1094R;ENSP00000417093:G683R;ENSP00000380731:G673R	.	G	-	1	0	PTPRD	8474252	1.000000	0.71417	0.829000	0.32907	0.797000	0.45037	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GGG	PTPRD	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	61	0	C			8484252	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	35.85	34	19	SNP	1.000	T	T	8484252	C	T	8484252	3	4	154	1	0	0	0	0	1	0	0	0	12844	594	21	3	2591	3	PTPRD	9	8484252	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09		8484252	132729179	91	39281											
HAUS6	54801	genome.wustl.edu	37	chr9	19096745	19096745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattatatgaaaggcatcacGgttcagcttgtcaaacatgt	14	12	8	7	1	3	1	3	1	0	0	3	1	3	1	0	2	2	3	0	2	5	4	rs539387980		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:19096745G>T	ENST00000380502.3	-	2	618	c.151C>A	c.(151-153)Cgt>Agt	p.R51S		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	51					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.R51C(2)		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						AAGGCATCACGGTTCAGCTTG	0.299																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)											46	51	49					9																	19096745		2203	4298	6501	SO:0001583	missense	0			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.151C>A	9.37:g.19096745G>T	ENSP00000369871:p.Arg51Ser		B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.R51S	ENST00000380502.3	37	c.151	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287203	0.40494	.	.	ENSG00000147874	ENST00000380502	T	0.22539	1.95	5.25	4.23	0.50019	.	0.265582	0.41712	D	0.000830	T	0.20251	0.0487	M	0.68317	2.08	0.80722	D	1	B	0.29766	0.256	B	0.29785	0.107	T	0.04767	-1.0928	10	0.36615	T	0.2	-12.1386	5.8937	0.18927	0.095:0.0:0.5835:0.3215	.	51	Q7Z4H7	HAUS6_HUMAN	S	51	ENSP00000369871:R51S	ENSP00000369871:R51S	R	-	1	0	HAUS6	19086745	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.368000	0.59505	2.604000	0.88044	0.650000	0.86243	CGT	HAUS6	-	NULL	ENSG00000147874		0.299	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1		0	70	0	G	NM_017645		19096745	-1			no_errors	ENST00000380502	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	19096745	G	T	19096745	3	4	154	1	0	0	0	0	1	0	0	0	6997	1116	39	2	2780	2	HAUS6	9	19096745	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	10612493	19096745	122116686	92	39282											
ELAVL2	1993	genome.wustl.edu	37	chr9	23731092	23731092	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcatccttggggtcaatGtagttcacaaagccatatcc	10	12	8	11	0	3	0	2	0	1	0	5	0	5	0	3	2	2	3	3	2	4	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:23731092G>T	ENST00000397312.2	-	3	535	c.261C>A	c.(259-261)taC>taA	p.Y87*	ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.Y116*|ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.Y87*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.Y87*|ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.Y87*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	87	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)		TGGGGTCAATGTAGTTCACAA	0.353																																																	0													133	113	120					9																	23731092		2203	4299	6502	SO:0001587	stop_gained	0			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.261C>A	9.37:g.23731092G>T	ENSP00000380479:p.Tyr87*		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.Y87*	ENST00000397312.2	37	c.261	CCDS6515.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.547402	0.98352	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7401	0.69448	0.0709:0.0:0.9291:0.0	.	.	.	.	X	87;87;87;87;87;115;87	.	ENSP00000223951:Y87X	Y	-	3	2	ELAVL2	23721092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.937000	0.40193	2.941000	0.99782	0.655000	0.94253	TAC	ELAVL2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF	ENSG00000107105		0.353	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	-	0	66	0	G	NM_004432		23731092	-1	tier1	-	no_errors	ENST00000380117	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	1.000	T	T	23731092	G	T	23731092	4	4	154	1	0	0	0	0	0	1	0	0	5066	1372	48	3	838	3	ELAVL2	9	23731092	Nonsense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	4634347	23731092	117482339	93	39283											
DDX58	23586	genome.wustl.edu	37	chr9	32459470	32459470	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaggttttggtttttcttGactatctctgatgaattttt	7	22	7	5	0	2	3	0	3	2	0	3	3	2	3	0	2	1	2	0	2	3	9			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:32459470G>A	ENST00000379883.2	-	17	2537	c.2380C>T	c.(2380-2382)Caa>Taa	p.Q794*	DDX58_ENST00000379882.1_Nonsense_Mutation_p.Q749*|DDX58_ENST00000542096.1_Nonsense_Mutation_p.Q723*|DDX58_ENST00000379868.1_Nonsense_Mutation_p.Q591*	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	794	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)		GGTTTTTCTTGACTATCTCTG	0.353																																																	0													180	159	166					9																	32459470		2203	4300	6503	SO:0001587	stop_gained	0			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.2380C>T	9.37:g.32459470G>A	ENSP00000369213:p.Gln794*		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Nonsense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q794*	ENST00000379883.2	37	c.2380	CCDS6526.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.424942	0.98806	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	.	.	.	4.79	0.514	0.17007	.	0.574478	0.15222	N	0.273881	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-6.9212	2.3205	0.04209	0.1829:0.153:0.5072:0.1569	.	.	.	.	X	749;794;591;723	.	ENSP00000369197:Q591X	Q	-	1	0	DDX58	32449470	0.057000	0.20700	0.069000	0.20011	0.144000	0.21451	0.192000	0.17096	0.529000	0.28599	0.655000	0.94253	CAA	DDX58	-	superfamily_P-loop_NTPase	ENSG00000107201		0.353	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX58	HGNC	protein_coding	OTTHUMT00000052011.1	-	0	96	0	G	NM_014314		32459470	-1	tier1	-	no_errors	ENST00000379883	ensembl	human	known	74_37	nonsense	76.38	59	194	SNP	0.141	A	A	32459470	G	A	32459470	4	1	154	1	0	0	0	0	0	1	0	0	4384	1299	45	3	405	3	DDX58	9	32459470	Nonsense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	8728378	32459470	108753961	94	39284											
HEMGN	55363	genome.wustl.edu	37	chr9	100693387	100693387	+	Missense_Mutation	SNP	A	A	T	1	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	taggtgccagtgctttctccActatttccttttctatctgt	5	19	6	11	0	3	0	0	0	3	0	5	0	4	0	3	1	2	1	3	1	3	7	rs201990544|rs144965245	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:100693387A>T	ENST00000259456.3	-	4	433	c.290T>A	c.(289-291)gTg>gAg	p.V97E		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	97				IV -> M (in Ref. 6; AAH48324). {ECO:0000305}.	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)				TGCTTTCTCCACTATTTCCTT	0.453																																																	0													155	145	148					9																	100693387		2203	4300	6503	SO:0001583	missense	0			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.290T>A	9.37:g.100693387A>T	ENSP00000259456:p.Val97Glu		Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	NULL	p.V97E	ENST00000259456.3	37	c.290	CCDS6731.1	9	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261310	0.39995	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.84	-4.41	0.03590	.	1.461070	0.03758	N	0.257666	T	0.32852	0.0843	L	0.43152	1.355	0.09310	N	1	B	0.25169	0.119	B	0.26416	0.069	T	0.22347	-1.0219	9	0.24483	T	0.36	5.0038	8.1325	0.31035	0.3151:0.1522:0.5327:0.0	.	97	Q9BXL5	HEMGN_HUMAN	E	97	.	ENSP00000259456:V97E	V	-	2	0	HEMGN	99733208	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-0.376000	0.07465	-0.691000	0.05135	0.482000	0.46254	GTG	HEMGN	-	NULL	ENSG00000136929		0.453	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEMGN	HGNC	protein_coding	OTTHUMT00000053344.2		0	36	0	A	NM_197978		100693387	-1			no_errors	ENST00000259456	ensembl	human	known	74_37	missense	5.63	42	4	SNP	0.000	T	T	100693387	A	T	100693387	3	4	154	1	0	0	0	0	1	0	0	0	7077	159	6	5	1172	5	HEMGN	9	100693387	Missense_Mutation	SNP	A	TCGA-S8-A6BW-01A-11D-A31U-09	68233917	100693387	40520044	95	39285											
ERP44	23071	genome.wustl.edu	37	chr9	102744932	102744932	+	Frame_Shift_Del	DEL	A	A	-																															cctcaatagagtatacctatAttcactgggtgctagtttct																										TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:102744932delA	ENST00000262455.6	-	12	1382	c.1183delT	c.(1183-1185)tatfs	p.Y395fs		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	395					cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						GTATACCTATATTCACTGGGT	0.388																																																	0													102	94	97					9																	102744932		2203	4300	6503	SO:0001589	frameshift_variant	0			AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"Protein disulfide isomerases"	18311	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 10"	609170	"thioredoxin domain containing 4 (endoplasmic reticulum)"	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.1183delT	9.37:g.102744932delA	ENSP00000262455:p.Tyr395fs		O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Frame_Shift_Del	DEL	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold	p.Y395fs	ENST00000262455.6	37	c.1183	CCDS35082.1	9																																																																																			ERP44	-	NULL	ENSG00000023318		0.388	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP44	HGNC	protein_coding	OTTHUMT00000053402.1		0	26	0	A	XM_088476		102744932	-1	tier1		no_errors	ENST00000262455	ensembl	human	known	74_37	frame_shift_del	41.18	20	14	DEL	1.000	-	-	102744932	A	-	102744932	7	5	154	1	0	1	0	1	0	0	0	0	5259	449	16	0	41	0	ERP44	9	102744932	Frame_Shift_Del	DEL	A	TCGA-S8-A6BW-01A-11D-A31U-09	2051545	102744932	38468499	96	39286											
MRPL50	54534	genome.wustl.edu	37	chr9	104160850	104160850	+	Missense_Mutation	SNP	T	T	A	0	1	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	catgaagactcttctggtaaTgcccgacacagatcgcgccg	10	8	10	13	4	2	3	0	1	2	2	3	4	2	3	2	1	1	1	2	1	2	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:104160850T>A	ENST00000374865.4	-	1	46	c.25A>T	c.(25-27)Att>Ttt	p.I9F	MRPL50_ENST00000539624.1_Missense_Mutation_p.I9F|ZNF189_ENST00000259395.4_5'Flank|ZNF189_ENST00000374861.3_5'Flank|ZNF189_ENST00000339664.2_5'Flank	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	9						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				CTTCTGGTAATGCCCGACACA	0.542																																																	0													116	105	109					9																	104160850		2203	4300	6503	SO:0001583	missense	0			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.25A>T	9.37:g.104160850T>A	ENSP00000363999:p.Ile9Phe		B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	pfam_Ribosomal_L50_mt	p.I9F	ENST00000374865.4	37	c.25	CCDS6753.1	9	.	.	.	.	.	.	.	.	.	.	T	11.55	1.671130	0.29693	.	.	ENSG00000136897	ENST00000374865;ENST00000539624	T	0.46063	0.88	4.1	-2.4	0.06583	.	1.475580	0.04680	N	0.412248	T	0.21962	0.0529	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.13229	-1.0517	10	0.39692	T	0.17	-2.0581	1.5723	0.02617	0.3333:0.2435:0.3074:0.1158	.	9;9	B7Z358;Q8N5N7	.;RM50_HUMAN	F	9	ENSP00000363999:I9F	ENSP00000363999:I9F	I	-	1	0	MRPL50	103200671	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.703000	0.00822	-0.404000	0.07610	-0.344000	0.07964	ATT	MRPL50	-	NULL	ENSG00000136897		0.542	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL50	HGNC	protein_coding	OTTHUMT00000053450.1	-	0	37	0	T	NM_019051		104160850	-1	tier1	-	no_errors	ENST00000374865	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.000	A	A	104160850	T	A	104160850	3	1	154	1	0	0	0	0	1	0	0	0	9852	1464	51	5	459	5	MRPL50	9	104160850	Missense_Mutation	SNP	T	TCGA-S8-A6BW-01A-11D-A31U-09	1415918	104160850	37052581	97	39287											
ZNF462	58499	genome.wustl.edu	37	chr9	109686919	109686919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccaaatctcgaggcaaCttttgttgtgagtggtgcag	9	13	12	7	1	1	2	0	2	1	0	2	3	1	2	1	2	2	3	1	2	2	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:109686919C>A	ENST00000277225.5	+	3	1015	c.726C>A	c.(724-726)aaC>aaA	p.N242K	ZNF462_ENST00000457913.1_Missense_Mutation_p.N242K|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	242					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						CTCGAGGCAACTTTTGTTGTG	0.537																																																	0													75	77	76					9																	109686919		2203	4300	6503	SO:0001583	missense	0			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.726C>A	9.37:g.109686919C>A	ENSP00000277225:p.Asn242Lys		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N242K	ENST00000277225.5	37	c.726	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584419	0.46110	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05855	3.38;3.83	5.91	5.02	0.67125	.	0.135042	0.64402	D	0.000002	T	0.08626	0.0214	L	0.27053	0.805	0.80722	D	1	D;P	0.55800	0.973;0.954	P;B	0.50405	0.64;0.437	T	0.38908	-0.9639	9	.	.	.	.	13.2547	0.60073	0.0:0.9271:0.0:0.0729	.	242;242	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	K	242	ENSP00000277225:N242K;ENSP00000414570:N242K	.	N	+	3	2	ZNF462	108726740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.728000	0.26013	1.518000	0.48934	0.655000	0.94253	AAC	ZNF462	-	NULL	ENSG00000148143		0.537	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	-	0	17	0	C	NM_021224		109686919	1	tier1	-	no_errors	ENST00000457913	ensembl	human	known	74_37	missense	51.06	23	24	SNP	1.000	A	A	109686919	C	A	109686919	3	1	154	1	0	0	0	0	1	0	0	0	17974	564	20	3	732	3	ZNF462	9	109686919	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	5526069	109686919	31526512	98	39288											
SLC46A2	57864	genome.wustl.edu	37	chr9	115651961	115651961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccaggacacccaggaagCtggtgatgaagatggtgtac	13	6	14	8	0	0	4	0	2	0	2	0	6	0	6	2	4	2	2	2	4	3	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:115651961C>T	ENST00000374228.4	-	1	1232	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	334					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						ACCCAGGAAGCTGGTGATGAA	0.557																																																	0													103	88	93					9																	115651961		2203	4300	6503	SO:0001583	missense	0			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.1001G>A	9.37:g.115651961C>T	ENSP00000363345:p.Ser334Asn		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG	p.S334N	ENST00000374228.4	37	c.1001	CCDS6786.1	9	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885244	0.91814	.	.	ENSG00000119457	ENST00000374228	D	0.81659	-1.52	5.66	5.66	0.87406	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88247	0.6385	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84614	0.0680	10	0.23891	T	0.37	-35.9189	19.4067	0.94649	0.0:1.0:0.0:0.0	.	334	Q9BY10	TSCOT_HUMAN	N	334	ENSP00000363345:S334N	ENSP00000363345:S334N	S	-	2	0	SLC46A2	114691782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.699000	0.84547	2.683000	0.91414	0.555000	0.69702	AGC	SLC46A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000119457		0.557	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	HGNC	protein_coding	OTTHUMT00000053702.1		0	22	0	C	NM_033051		115651961	-1			no_errors	ENST00000374228	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	115651961	C	T	115651961	3	4	154	1	0	0	0	0	1	0	0	0	14690	797	28	3	442	3	SLC46A2	9	115651961	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	5965042	115651961	25561470	99	39289											
CAMSAP1	157922	genome.wustl.edu	37	chr9	138703425	138703425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcatcacgaaacagtatGatgtagtgattggcatcaca	14	9	9	9	1	2	2	2	2	0	0	2	3	2	2	1	1	2	4	1	1	3	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:138703425G>A	ENST00000389532.4	-	17	4603	c.4539C>T	c.(4537-4539)atC>atT	p.I1513I	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.I1524I|CAMSAP1_ENST00000312405.6_Silent_p.I1235I	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1513	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GAAACAGTATGATGTAGTGAT	0.502																																																	0													81	62	69					9																	138703425		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4539C>T	9.37:g.138703425G>A			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.I1524	ENST00000389532.4	37	c.4572	CCDS35176.2	9																																																																																			CAMSAP1	-	pfam_CKK_domain,superfamily_PRC_barrel-like	ENSG00000130559		0.502	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2		0	41	0	G	XM_351857		138703425	-1			no_errors	ENST00000409386	ensembl	human	known	74_37	silent	9.38	29	3	SNP	1.000	A	A	138703425	G	A	138703425	2	1	154	1	0	0	0	0	0	0	0	1	2618	1280	45	3		3	CAMSAP1	9	138703425	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	23051464	138703425	2510006	100	39290											
ITGA8	8516	genome.wustl.edu	37	chr10	15655758	15655758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcatctacagtcacaaccGgtcttgctctgcggggagaa	9	8	13	11	2	4	1	1	0	3	1	4	2	4	1	1	4	4	2	1	4	3	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:15655758G>T	ENST00000378076.3	-	15	1807	c.1454C>A	c.(1453-1455)cCg>cAg	p.P485Q		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	485					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						AGTCACAACCGGTCTTGCTCT	0.463																																																	0													91	92	92					10																	15655758		2203	4300	6503	SO:0001583	missense	0			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.1454C>A	10.37:g.15655758G>T	ENSP00000367316:p.Pro485Gln		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.P485Q	ENST00000378076.3	37	c.1454	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465180	0.63513	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.79845	-1.31	5.23	5.23	0.72850	Integrin alpha-2 (1);	0.049578	0.85682	D	0.000000	D	0.90978	0.7163	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.92506	0.6012	10	0.87932	D	0	.	16.995	0.86365	0.0:0.0:1.0:0.0	.	470;485	F5H818;P53708	.;ITA8_HUMAN	Q	485;470	ENSP00000367316:P485Q	ENSP00000367316:P485Q	P	-	2	0	ITGA8	15695764	1.000000	0.71417	0.888000	0.34837	0.492000	0.33523	6.780000	0.75063	2.443000	0.82685	0.467000	0.42956	CCG	ITGA8	-	pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000077943		0.463	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1		0	27	0	G	NM_003638		15655758	-1			no_errors	ENST00000378076	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.995	T	T	15655758	G	T	15655758	3	4	154	1	0	0	0	0	1	0	0	0	7909	1116	39	2	1801	2	ITGA8	10	15655758	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09		15655758	119878989	101	39291											
RSU1	6251	genome.wustl.edu	37	chr10	16796955	16796955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaagagctggcagggagccGaagcctcgtggcaaagtgtt	10	7	15	9	2	1	1	1	0	0	1	2	3	1	2	2	3	3	4	2	3	3	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:16796955G>A	ENST00000377921.3	-	4	616	c.315C>T	c.(313-315)ttC>ttT	p.F105F	RSU1_ENST00000602389.1_Silent_p.F52F|RSU1_ENST00000345264.5_Silent_p.F105F|RSU1_ENST00000464074.2_5'UTR			Q15404	RSU1_HUMAN	Ras suppressor protein 1	105					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)		GCAGGGAGCCGAAGCCTCGTG	0.458																																																	0													81	88	85					10																	16796955		2203	4300	6503	SO:0001819	synonymous_variant	0			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.315C>T	10.37:g.16796955G>A			A8KA46|D3DRU3|Q6FI17	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F105	ENST00000377921.3	37	c.315	CCDS7112.1	10																																																																																			RSU1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000148484		0.458	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RSU1	HGNC	protein_coding	OTTHUMT00000047006.1	-	0	69	0	G	NM_012425, NM_152724		16796955	-1	tier1	-	no_errors	ENST00000345264	ensembl	human	known	74_37	silent	16.90	58	12	SNP	0.999	A	A	16796955	G	A	16796955	2	1	154	1	0	0	0	0	0	0	0	1	13761	1049	37	1		1	RSU1	10	16796955	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	1141197	16796955	118737792	102	39292											
C10orf140	387640	genome.wustl.edu	37	chr10	21805721	21805723	+	In_Frame_Del	DEL	TGG	TGG	-																															ggtggtggtggtggtggtgaTggtggtggtggtggtggtgg																										TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:21805721_21805723delTGG	ENST00000449193.2	-	4	3281_3283	c.1029_1031delCCA	c.(1027-1032)caccat>cat	p.343_344HH>H	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Del_p.264_265HH>H	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	262	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											gtggtggtgatggtggtggtggt	0.724																																																	0										90,2466		19,52,1207						-4.1	0.9			5	261,5663		25,211,2726	no	coding	C10orf140	NM_207371.3		44,263,3933	A1A1,A1R,RR		4.4058,3.5211,4.1392				351,8129				SO:0001651	inframe_deletion	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1029_1031delCCA	10.37:g.21805730_21805732delTGG	ENSP00000410041:p.His351del		B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Del	DEL	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.H347in_frame_del	ENST00000449193.2	37	c.1031_1029	CCDS44363.1	10																																																																																			SKIDA1	-	NULL	ENSG00000180592		0.724	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2		0	59	0	TGG	NM_207371		21805723	-1	tier1		no_errors	ENST00000449193	ensembl	human	known	74_37	in_frame_del	10.94	57	7	DEL	1.000:1.000:1.000	-	-	21805723	TGG	-	21805721	7	5	154	1	0	1	0	1	0	0	0	0	1600	1464	51	0	1699	0	C10orf140	10	21805721	In_Frame_Del	DEL	TGG	TCGA-S8-A6BW-01A-11D-A31U-09	5008766	21805721	113729026	103	39293											
MAP3K8	1326	genome.wustl.edu	37	chr10	30749675	30749675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgaggaatctgagatgctCaagaggcaacgctctctcta	12	8	10	11	2	4	2	1	1	3	2	5	5	4	3	1	2	2	3	1	2	4	1	rs372877014		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:30749675C>T	ENST00000263056.1	+	9	2010	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	MAP3K8_ENST00000542547.1_Silent_p.L438L|MAP3K8_ENST00000375321.1_Silent_p.L438L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	438			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)				CTGAGATGCTCAAGAGGCAAC	0.463																																																	0								C		0,4406		0,0,2203	95	84	88		1314	-4.3	0.8	10		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAP3K8	NM_005204.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		438/468	30749675	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1314C>T	10.37:g.30749675C>T			A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L438	ENST00000263056.1	37	c.1314	CCDS7166.1	10																																																																																			MAP3K8	-	superfamily_Kinase-like_dom	ENSG00000107968		0.463	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAP3K8	HGNC	protein_coding	OTTHUMT00000047416.2		0	11	0	C	NM_005204		30749675	1			no_errors	ENST00000263056	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.153	T	T	30749675	C	T	30749675	2	4	154	1	0	0	0	0	0	0	0	1	9294	813	29	3		3	MAP3K8	10	30749675	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	8943954	30749675	104785072	104	39294											
MAPK8	5599	genome.wustl.edu	37	chr10	49628338	49628338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacagagcacccgaggtcatCcttggcatgggctacaagga	11	7	12	11	1	1	1	1	0	0	1	2	3	2	2	2	4	3	3	2	4	3	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:49628338C>T	ENST00000374189.1	+	6	772	c.591C>T	c.(589-591)atC>atT	p.I197I	MAPK8_ENST00000360332.3_Silent_p.I197I|MAPK8_ENST00000395611.3_Silent_p.I197I|MAPK8_ENST00000374182.3_Silent_p.I197I|MAPK8_ENST00000374174.1_Silent_p.I197I			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CCGAGGTCATCCTTGGCATGG	0.398																																																	0													143	135	137					10																	49628338		2203	4300	6503	SO:0001819	synonymous_variant	0			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6881	protein-coding gene	gene with protein product	"JUN N-terminal kinase"	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.591C>T	10.37:g.49628338C>T			B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK	p.I197	ENST00000374189.1	37	c.591	CCDS7224.1	10																																																																																			MAPK8	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000107643		0.398	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1		0	31	0	C			49628338	1			no_errors	ENST00000360332	ensembl	human	known	74_37	silent	7.89	35	3	SNP	1.000	T	T	49628338	C	T	49628338	2	4	154	1	0	0	0	0	0	0	0	1	9321	845	30	3		3	MAPK8	10	49628338	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	18878663	49628338	85906409	105	39295											
TNKS2	80351	genome.wustl.edu	37	chr10	93604699	93604699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttataataatttagaagttGcagagtatttgttacaacac	15	15	7	4	0	0	2	0	0	0	2	0	2	0	2	0	0	3	5	0	0	8	9			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:93604699G>T	ENST00000371627.4	+	17	2462	c.2083G>T	c.(2083-2085)Gca>Tca	p.A695S		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	695					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTTAGAAGTTGCAGAGTATTT	0.333																																																	0													72	72	72					10																	93604699		2203	4300	6503	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2083G>T	10.37:g.93604699G>T	ENSP00000360689:p.Ala695Ser		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.A695S	ENST00000371627.4	37	c.2083	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038312	0.93630	.	.	ENSG00000107854	ENST00000371627	T	0.66099	-0.19	5.06	5.06	0.68205	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000033	T	0.75831	0.3903	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	D	0.64687	0.928	T	0.77691	-0.2493	10	0.62326	D	0.03	.	18.7936	0.91985	0.0:0.0:1.0:0.0	.	695	Q9H2K2	TNKS2_HUMAN	S	695	ENSP00000360689:A695S	ENSP00000360689:A695S	A	+	1	0	TNKS2	93594679	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.499000	0.84300	0.585000	0.79938	GCA	TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107854		0.333	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1		0	47	0	G	NM_025235		93604699	1			no_errors	ENST00000371627	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	93604699	G	T	93604699	3	4	154	1	0	0	0	0	1	0	0	0	16368	1319	46	3	2149	3	TNKS2	10	93604699	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	43976361	93604699	41930048	106	39296											
KIF11	3832	genome.wustl.edu	37	chr10	94373192	94373192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgttgataagagagctcGggaagctggaaatataaatc	15	9	12	5	1	0	2	0	1	0	1	2	5	0	4	0	2	3	4	0	2	6	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:94373192G>T	ENST00000260731.3	+	8	938	c.848G>T	c.(847-849)cGg>cTg	p.R283L		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	283	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGAGAGCTCGGGAAGCTGGA	0.373																																					Colon(47;212 1003 2764 4062 8431)												0													72	75	74					10																	94373192		2203	4300	6503	SO:0001583	missense	0			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.848G>T	10.37:g.94373192G>T	ENSP00000260731:p.Arg283Leu		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R283L	ENST00000260731.3	37	c.848	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.251400	0.95305	.	.	ENSG00000138160	ENST00000260731	T	0.75477	-0.94	5.82	5.82	0.92795	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88359	0.2986	10	0.87932	D	0	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	283	P52732	KIF11_HUMAN	L	283	ENSP00000260731:R283L	ENSP00000260731:R283L	R	+	2	0	KIF11	94363172	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.664000	0.74437	2.745000	0.94114	0.655000	0.94253	CGG	KIF11	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000138160		0.373	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	-	0	68	0	G	NM_004523		94373192	1	tier1	-	no_errors	ENST00000260731	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T	T	94373192	G	T	94373192	3	4	154	1	0	0	0	0	1	0	0	0	8299	1116	39	2	878	2	KIF11	10	94373192	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	768493	94373192	41161555	107	39297											
PLCE1	51196	genome.wustl.edu	37	chr10	96005983	96005983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taaagcccacaactgcctccCcagccagcagtaaagcaaaa	16	4	6	15	0	0	0	0	0	0	0	1	0	1	0	5	0	6	3	5	0	7	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:96005983C>A	ENST00000371380.3	+	7	2936	c.2701C>A	c.(2701-2703)Cca>Aca	p.P901T	PLCE1_ENST00000371375.1_Missense_Mutation_p.P593T|PLCE1_ENST00000260766.3_Missense_Mutation_p.P901T|PLCE1_ENST00000371385.3_Missense_Mutation_p.P593T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	901					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)				AACTGCCTCCCCAGCCAGCAG	0.527																																																	0													45	50	49					10																	96005983		2058	4200	6258	SO:0001583	missense	0				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.2701C>A	10.37:g.96005983C>A	ENSP00000360431:p.Pro901Thr		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.P901T	ENST00000371380.3	37	c.2701	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	6.973	0.549429	0.13374	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.86	4.93	0.64822	.	0.209113	0.40385	N	0.001104	T	0.17152	0.0412	L	0.36672	1.1	0.30458	N	0.774599	P;B;B	0.35077	0.483;0.228;0.179	B;B;B	0.25140	0.057;0.058;0.057	T	0.12477	-1.0546	10	0.02654	T	1	.	11.3401	0.49527	0.0:0.8043:0.1276:0.0681	.	901;593;901	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	T	901;901;593;593	ENSP00000260766:P901T;ENSP00000360431:P901T;ENSP00000360438:P593T;ENSP00000360426:P593T	ENSP00000260766:P901T	P	+	1	0	PLCE1	95995973	0.854000	0.29725	0.985000	0.45067	0.446000	0.32137	2.144000	0.42197	2.788000	0.95919	0.585000	0.79938	CCA	PLCE1	-	NULL	ENSG00000138193		0.527	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3		0	25	0	C	NM_016341		96005983	1			no_errors	ENST00000260766	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.910	A	A	96005983	C	A	96005983	3	1	154	1	0	0	0	0	1	0	0	0	12073	623	22	3	3013	3	PLCE1	10	96005983	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	1632791	96005983	39528764	108	39298											
MMS19	64210	genome.wustl.edu	37	chr10	99218606	99218606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcaccagtctcttcttgtCatccaggggtttggctaagg	6	12	12	11	1	3	0	1	0	2	0	5	0	4	0	2	4	0	3	2	4	1	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:99218606C>T	ENST00000438925.2	-	30	3351	c.3016G>A	c.(3016-3018)Gac>Aac	p.D1006N	MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000355839.6_Missense_Mutation_p.D963N|MMS19_ENST00000327238.10_Missense_Mutation_p.D908N|MMS19_ENST00000370782.2_Missense_Mutation_p.D1006N	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	1006					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CTCTTCTTGTCATCCAGGGGT	0.532								Direct reversal of damage																																									0													125	97	106					10																	99218606		2203	4300	6503	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.3016G>A	10.37:g.99218606C>T	ENSP00000412698:p.Asp1006Asn		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_C,superfamily_ARM-type_fold	p.D1006N	ENST00000438925.2	37	c.3016	CCDS7464.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.237772|5.237772	0.95240|0.95240	.|.	.|.	ENSG00000155229|ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839|ENST00000444411;ENST00000434538	T;T;T;T|.	0.68025|.	-0.28;-0.28;-0.3;-0.28|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.046305|.	0.85682|.	D|.	0.000000|.	D|D	0.86443|0.86443	0.5934|0.5934	M|M	0.91300|0.91300	3.195|3.195	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;0.999;0.999;0.998;1.0|.	D|D	0.88527|0.88527	0.3100|0.3100	10|5	0.62326|.	D|.	0.03|.	.|.	19.7572|19.7572	0.96298|0.96298	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1027;908;963;1006;963|.	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3|.	.;.;.;MMS19_HUMAN;.|.	N|I	1006;1006;908;985;963|65;573	ENSP00000412698:D1006N;ENSP00000359818:D1006N;ENSP00000320059:D908N;ENSP00000348097:D963N|.	ENSP00000320059:D908N|.	D|M	-|-	1|3	0|0	MMS19|MMS19	99208596|99208596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.131000|7.131000	0.77243|0.77243	2.667000|2.667000	0.90743|0.90743	0.650000|0.650000	0.86243|0.86243	GAC|ATG	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.532	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	-	0	33	0	C			99218606	-1	tier1	-	no_errors	ENST00000370782	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	T	T	99218606	C	T	99218606	3	4	154	1	0	0	0	0	1	0	0	0	9710	826	29	3	84	3	MMS19	10	99218606	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	3212623	99218606	36316141	109	39299											
LZTS2	84445	genome.wustl.edu	37	chr10	102763412	102763412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcagctgtttgggggccCtgcctcctcctcctcctctt	2	12	10	17	1	1	0	0	0	1	0	5	1	5	0	6	2	2	3	6	2	0	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:102763412C>A	ENST00000370220.1	+	2	3620	c.557C>A	c.(556-558)cCt>cAt	p.P186H	LZTS2_ENST00000370223.3_Missense_Mutation_p.P186H					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)		TTTGGGGGCCCTGcctcctcc	0.657																																					Esophageal Squamous(8;38 437 13604 19902 37640)												0													83	96	91					10																	102763412		2203	4300	6503	SO:0001583	missense	0			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.557C>A	10.37:g.102763412C>A	ENSP00000359240:p.Pro186His			Missense_Mutation	SNP	NULL	p.P186H	ENST00000370220.1	37	c.557	CCDS7507.1	10	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640346	0.47153	.	.	ENSG00000107816	ENST00000426584;ENST00000370223;ENST00000429732;ENST00000315797;ENST00000370220;ENST00000454422	T;T	0.32023	1.47;1.47	5.27	5.27	0.74061	.	0.166280	0.53938	D	0.000048	T	0.27063	0.0663	L	0.34521	1.04	0.34014	D	0.651848	B	0.06786	0.001	B	0.04013	0.001	T	0.17167	-1.0378	10	0.27785	T	0.31	-4.7468	18.8452	0.92203	0.0:1.0:0.0:0.0	.	186	Q9BRK4	LZTS2_HUMAN	H	186	ENSP00000359243:P186H;ENSP00000359240:P186H	ENSP00000314437:P186H	P	+	2	0	LZTS2	102753402	0.982000	0.34865	1.000000	0.80357	0.969000	0.65631	2.639000	0.46570	2.619000	0.88677	0.561000	0.74099	CCT	LZTS2	-	NULL	ENSG00000107816		0.657	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LZTS2	HGNC	protein_coding	OTTHUMT00000049872.1		0	33	0	C	XM_046743		102763412	1			no_errors	ENST00000370220	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	102763412	C	A	102763412	3	1	154	1	0	0	0	0	1	0	0	0	9175	681	24	3	563	3	LZTS2	10	102763412	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	3544806	102763412	32771335	110	39300											
C10orf82	143379	genome.wustl.edu	37	chr10	118424288	118424288	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcactcttcatatggtttcaGatgtgccttcttggccctct	5	17	7	12	0	6	1	3	0	3	1	6	1	6	1	2	2	1	1	2	2	1	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:118424288G>C	ENST00000369210.3	-	4	499	c.445C>G	c.(445-447)Ctg>Gtg	p.L149V	C10orf82_ENST00000588184.1_Missense_Mutation_p.L149V	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	149										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TATGGTTTCAGATGTGCCTTC	0.527																																																	0													172	138	149					10																	118424288		2203	4300	6503	SO:0001583	missense	0			BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.445C>G	10.37:g.118424288G>C	ENSP00000358212:p.Leu149Val		B3KUM9|D3DRC3	Missense_Mutation	SNP	NULL	p.L149V	ENST00000369210.3	37	c.445	CCDS7596.1	10	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376065	0.42105	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.49432	0.78	6.08	3.08	0.35506	.	0.840897	0.10388	N	0.680706	T	0.48466	0.1501	M	0.73962	2.25	0.09310	N	1	P	0.46142	0.873	P	0.44811	0.461	T	0.36016	-0.9765	10	0.31617	T	0.26	-9.9171	5.0265	0.14387	0.0797:0.1453:0.6246:0.1503	.	149	Q8WW14	CJ082_HUMAN	V	149	ENSP00000358212:L149V	ENSP00000358212:L149V	L	-	1	2	C10orf82	118414278	0.092000	0.21681	0.050000	0.19076	0.682000	0.39822	0.546000	0.23284	0.822000	0.34565	0.655000	0.94253	CTG	C10orf82	-	NULL	ENSG00000165863		0.527	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C10orf82	HGNC	protein_coding	OTTHUMT00000050527.1	-	0	38	0	G	NM_144661		118424288	-1	tier1	-	no_errors	ENST00000588184	ensembl	human	known	74_37	missense	19.64	45	11	SNP	0.066	C	C	118424288	G	C	118424288	3	2	154	1	0	0	0	0	1	0	0	0	1625	933	33	5	27	5	C10orf82	10	118424288	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	15660876	118424288	17110459	111	39301											
MMP26	56547	genome.wustl.edu	37	chr11	5009484	5009484	+	Missense_Mutation	SNP	T	T	G	0	1	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	ttactatcttcttgccctggTgtttcgccgttccagtgccc	3	16	8	14	2	2	0	0	0	2	0	4	0	3	0	4	1	3	2	4	1	2	6			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:5009484T>G	ENST00000380390.1	+	2	259	c.43T>G	c.(43-45)Tgt>Ggt	p.C15G	MMP26_ENST00000300762.1_Missense_Mutation_p.C15G|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	15					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)	CTTGCCCTGGTGTTTCGCCGT	0.493											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													295	233	254					11																	5009484		2201	4298	6499	SO:0001583	missense	0			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.43T>G	11.37:g.5009484T>G	ENSP00000369753:p.Cys15Gly	623	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A	p.C15G	ENST00000380390.1	37	c.43	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	T	9.185	1.024578	0.19433	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.26223	1.75;1.75	3.3	2.04	0.26737	.	0.170828	0.27513	N	0.019032	T	0.20941	0.0504	L	0.59436	1.845	0.09310	N	1	B	0.20780	0.048	B	0.16289	0.015	T	0.11036	-1.0604	10	0.39692	T	0.17	-10.9504	6.017	0.19608	0.0:0.0:0.2682:0.7318	.	15	Q9NRE1	MMP26_HUMAN	G	15	ENSP00000369753:C15G;ENSP00000300762:C15G	ENSP00000300762:C15G	C	+	1	0	MMP26	4966060	0.926000	0.31397	0.184000	0.23157	0.009000	0.06853	0.676000	0.25247	1.503000	0.48686	0.533000	0.62120	TGT	MMP26	-	NULL	ENSG00000167346		0.493	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	-	0	52	0	T	NM_021801		5009484	1	tier1	-	no_errors	ENST00000300762	ensembl	human	known	74_37	missense	46.67	32	28	SNP	0.198	G	G	5009484	T	G	5009484	3	3	154	1	0	0	0	0	1	0	0	0	9701	1696	59	4	45	4	MMP26	11	5009484	Missense_Mutation	SNP	T	TCGA-S8-A6BW-01A-11D-A31U-09		5009484	129997032	112	39302											
HBB	3043	genome.wustl.edu	37	chr11	5248189	5248189	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaccaccaacttcatcCacgttcaccttgccccacag	9	8	4	20	1	3	0	3	0	0	0	4	0	4	0	7	0	2	1	7	0	1	3	rs67440443	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:5248189C>A	ENST00000335295.4	-	1	112	c.63G>T	c.(61-63)gtG>gtT	p.V21V	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	21			V -> M (in Olympia; O(2) affinity up; dbSNP:rs35890959).		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAACTTCATCCACGTTCACCT	0.512									Sickle Cell Trait																																								0													162	130	141					11																	5248189		2201	4298	6499	SO:0001819	synonymous_variant	0	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.63G>T	11.37:g.5248189C>A			A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Silent	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	p.V21	ENST00000335295.4	37	c.63	CCDS7753.1	11																																																																																			HBB	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin	ENSG00000244734		0.512	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBB	HGNC	protein_coding	OTTHUMT00000142977.2	-	0	46	0	C	NM_000518		5248189	-1	tier1	-	no_errors	ENST00000335295	ensembl	human	known	74_37	silent	22.45	38	11	SNP	0.004	A	A	5248189	C	A	5248189	2	1	154	1	0	0	0	0	0	0	0	1	7005	581	21	3		3	HBB	11	5248189	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	238705	5248189	129758327	113	39303											
SPTY2D1	144108	genome.wustl.edu	37	chr11	18637589	18637589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcttgctttcttgtcatGtttgagctcaattcgctttt	5	20	7	9	1	4	1	2	1	2	0	5	1	4	1	0	0	3	5	0	0	1	7			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:18637589G>T	ENST00000336349.5	-	3	467	c.232C>A	c.(232-234)Cat>Aat	p.H78N	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	78										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTCTTGTCATGTTTGAGCTCA	0.393																																																	0													161	135	144					11																	18637589		2199	4293	6492	SO:0001583	missense	0			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.232C>A	11.37:g.18637589G>T	ENSP00000337991:p.His78Asn		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.H78N	ENST00000336349.5	37	c.232	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510705	0.44660	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.28454	1.61	5.63	5.63	0.86233	.	0.124848	0.56097	D	0.000030	T	0.49729	0.1574	M	0.62723	1.935	0.40565	D	0.981248	D	0.60575	0.988	P	0.57204	0.815	T	0.41698	-0.9494	10	0.41790	T	0.15	-11.2559	19.6738	0.95923	0.0:0.0:1.0:0.0	.	78	Q68D10	SPT2_HUMAN	N	78	ENSP00000337991:H78N	ENSP00000331447:H78N	H	-	1	0	SPTY2D1	18594165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.391000	0.79828	2.648000	0.89879	0.563000	0.77884	CAT	SPTY2D1	-	NULL	ENSG00000179119		0.393	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1		0	53	0	G	NM_194285		18637589	-1			no_errors	ENST00000336349	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	18637589	G	T	18637589	3	4	154	1	0	0	0	0	1	0	0	0	15173	1377	48	3	1841	3	SPTY2D1	11	18637589	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	13389400	18637589	116368927	114	39304											
OR4C16	219428	genome.wustl.edu	37	chr11	55339864	55339864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggatgcccttttgaagaaGacaactatctccttcagcga	11	11	9	10	1	2	3	1	1	1	2	3	5	2	4	2	1	3	0	2	1	4	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:55339864G>C	ENST00000314634.3	+	1	261	c.261G>C	c.(259-261)aaG>aaC	p.K87N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTTTGAAGAAGACAACTATCT	0.448																																																	0													269	251	257					11																	55339864		2201	4296	6497	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.261G>C	11.37:g.55339864G>C	ENSP00000324913:p.Lys87Asn		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K87N	ENST00000314634.3	37	c.261	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	G	1.207	-0.630694	0.03584	.	.	ENSG00000181935	ENST00000314634	T	0.03094	4.05	4.98	-9.05	0.00730	GPCR, rhodopsin-like superfamily (1);	0.906757	0.09558	N	0.785985	T	0.02533	0.0077	L	0.33245	0.995	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.38693	-0.9649	10	0.45353	T	0.12	.	6.5933	0.22659	0.2523:0.0:0.275:0.4726	.	87	Q8NGL9	OR4CG_HUMAN	N	87	ENSP00000324913:K87N	ENSP00000324913:K87N	K	+	3	2	OR4C16	55096440	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.566000	0.00429	-2.428000	0.00559	-2.839000	0.00105	AAG	OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181935		0.448	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0	53	0	G	NM_001004701		55339864	1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	25.00	48	16	SNP	0.000	C	C	55339864	G	C	55339864	3	2	154	1	0	0	0	0	1	0	0	0	11088	933	33	5	263	5	OR4C16	11	55339864	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	36702275	55339864	79666652	115	39305											
TNKS1BP1	85456	genome.wustl.edu	37	chr11	57077682	57077682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatctgcctcctggctccGctgagtgccaagctgggctg	6	9	12	14	1	1	1	0	1	1	0	3	1	3	1	4	2	4	4	4	2	2	0	rs143273092		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:57077682G>A	ENST00000532437.1	-	5	2814	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R835W			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	835	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCCTGGCTCCGCTGAGTGCCA	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		18820	0		0	False		,,,				2504	0																0								G	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	89	96	94		2503	3.6	0.1	11	dbSNP_134	94	1,8591	1.2+/-3.3	0,1,4295	yes	missense	TNKS1BP1	NM_033396.2	101	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	835/1730	57077682	2,12992	2201	4296	6497	SO:0001583	missense	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2503C>T	11.37:g.57077682G>A	ENSP00000437271:p.Arg835Trp		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.R835W	ENST00000532437.1	37	c.2503	CCDS7951.1	11	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.81	2.048138	0.36181	2.27E-4	1.16E-4	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32023	1.47;1.47	3.56	3.56	0.40772	.	1.110580	0.06939	N	0.812425	T	0.23532	0.0569	N	0.08118	0	0.09310	N	1	D	0.56521	0.976	P	0.46975	0.533	T	0.26503	-1.0101	10	0.62326	D	0.03	-11.0605	11.0069	0.47639	0.0:0.0:1.0:0.0	.	835	Q9C0C2	TB182_HUMAN	W	835	ENSP00000350990:R835W;ENSP00000437271:R835W	ENSP00000350990:R835W	R	-	1	2	TNKS1BP1	56834258	0.043000	0.20138	0.142000	0.22268	0.312000	0.27988	2.596000	0.46205	1.732000	0.51606	0.462000	0.41574	CGG	TNKS1BP1	-	NULL	ENSG00000149115		0.607	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1		0	22	0	G	NM_033396		57077682	-1			no_errors	ENST00000358252	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.189	A	A	57077682	G	A	57077682	3	1	154	1	0	0	0	0	1	0	0	0	16367	1086	38	1	2710	1	TNKS1BP1	11	57077682	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	1737818	57077682	77928834	116	39306											
B3GNT6	192134	genome.wustl.edu	37	chr11	76751188	76751188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggacaccttcctcaacctcaCgctcaagcacctgcacttgc	9	8	6	18	1	3	0	3	0	0	0	4	1	4	1	4	1	4	3	4	1	2	2	rs376838217		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:76751188C>T	ENST00000533140.1	+	2	731	c.593C>T	c.(592-594)aCg>aTg	p.T198M	B3GNT6_ENST00000354301.5_Missense_Mutation_p.T198M|B3GNT6_ENST00000421061.1_Missense_Mutation_p.T109M			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						CTCAACCTCACGCTCAAGCAC	0.706																																																	0													44	48	47					11																	76751188		2196	4280	6476	SO:0001583	missense	0			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.593C>T	11.37:g.76751188C>T	ENSP00000435352:p.Thr198Met		Q4TTN0	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.T198M	ENST00000533140.1	37	c.593	CCDS53681.1	11	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334427	0.81801	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000421061	T;T;T	0.52526	0.66;0.66;0.66	3.28	3.28	0.37604	.	0.139381	0.50627	D	0.000109	T	0.77857	0.4193	H	0.97587	4.035	0.44825	D	0.997835	D	0.89917	1.0	D	0.83275	0.996	D	0.85397	0.1129	10	0.87932	D	0	.	12.8278	0.57728	0.0:1.0:0.0:0.0	.	198	Q6ZMB0	B3GN6_HUMAN	M	198;198;109	ENSP00000435352:T198M;ENSP00000346256:T198M;ENSP00000403463:T109M	ENSP00000346256:T198M	T	+	2	0	B3GNT6	76428836	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.958000	0.76025	2.113000	0.64589	0.462000	0.41574	ACG	B3GNT6	-	pfam_Glyco_trans_31	ENSG00000198488		0.706	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	B3GNT6	HGNC	protein_coding	OTTHUMT00000382740.2	-	0	42	0	C	NM_138706		76751188	1	tier1	-	no_errors	ENST00000533140	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	76751188	C	T	76751188	3	4	154	1	0	0	0	0	1	0	0	0	1262	536	19	1	595	1	B3GNT6	11	76751188	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	19673506	76751188	58255328	117	39307											
PGR	5241	genome.wustl.edu	37	chr11	100922294	100922294	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcatcaatatgtaagtttcGaaaacctacaaaacaaattt	18	12	4	7	1	2	0	2	0	0	0	3	1	2	0	1	0	3	2	1	0	9	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:100922294G>A	ENST00000325455.5	-	5	3671	c.2218C>T	c.(2218-2220)Cga>Tga	p.R740*	PGR_ENST00000534013.1_Nonsense_Mutation_p.R146*|PGR_ENST00000263463.5_Nonsense_Mutation_p.R638*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	740	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			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)	TGTAAGTTTCGAAAACCTACA	0.323																																					Pancreas(124;2271 2354 21954 22882)												0													72	74	73					11																	100922294		2203	4300	6503	SO:0001587	stop_gained	0			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.2218C>T	11.37:g.100922294G>A	ENSP00000325120:p.Arg740*		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Nonsense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.R740*	ENST00000325455.5	37	c.2218	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	G	40	8.184911	0.98696	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	.	.	.	5.24	3.33	0.38152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1701	0.59593	0.0:0.0:0.5806:0.4194	.	.	.	.	X	740;146;638;638	.	ENSP00000263463:R638X	R	-	1	2	PGR	100427504	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.982000	0.56909	0.554000	0.29061	0.650000	0.86243	CGA	PGR	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000082175		0.323	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	-	0	13	0	G			100922294	-1	tier1	-	no_errors	ENST00000325455	ensembl	human	known	74_37	nonsense	69.23	4	9	SNP	1.000	A	A	100922294	G	A	100922294	4	1	154	1	0	0	0	0	0	1	0	0	11844	1066	37	1	599	1	PGR	11	100922294	Nonsense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	24171106	100922294	34084222	118	39308											
GRIA4	2893	genome.wustl.edu	37	chr11	105804513	105804513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagcagagccatcagtattCactaggactacagctgaggg	12	8	11	10	0	3	2	3	1	0	1	3	3	3	3	1	2	4	3	1	2	3	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:105804513C>G	ENST00000530497.1	+	13	2112	c.2112C>G	c.(2110-2112)ttC>ttG	p.F704L	AP000673.1_ENST00000583628.1_RNA|GRIA4_ENST00000525187.1_Missense_Mutation_p.F704L|GRIA4_ENST00000282499.5_Missense_Mutation_p.F704L|GRIA4_ENST00000393127.2_Missense_Mutation_p.F704L			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	704					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)		CATCAGTATTCACTAGGACTA	0.413																																																	0													63	58	60					11																	105804513		2202	4299	6501	SO:0001583	missense	0			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.2112C>G	11.37:g.105804513C>G	ENSP00000435775:p.Phe704Leu		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F704L	ENST00000530497.1	37	c.2112	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896452	0.72639	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187;ENST00000539249	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.51	5.51	0.81932	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	T	0.51958	0.1705	L	0.39514	1.22	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.79108	0.99;0.992	T	0.33033	-0.9884	10	0.23891	T	0.37	.	19.4254	0.94740	0.0:1.0:0.0:0.0	.	704;704	P48058;G3V164	GRIA4_HUMAN;.	L	704;704;704;704;9	ENSP00000282499:F704L;ENSP00000376835:F704L;ENSP00000435775:F704L;ENSP00000432180:F704L	ENSP00000282499:F704L	F	+	3	2	GRIA4	105309723	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.456000	0.44997	2.595000	0.87683	0.591000	0.81541	TTC	GRIA4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000152578		0.413	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1		0	38	0	C			105804513	1			no_errors	ENST00000282499	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	G	G	105804513	C	G	105804513	3	3	154	1	0	0	0	0	1	0	0	0	6797	825	29	5	2199	5	GRIA4	11	105804513	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	4882219	105804513	29202003	119	39309											
BCL9L	283149	genome.wustl.edu	37	chr11	118772974	118772974	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgccccatgtccccacccGgggggtgcccaggcacttca	5	6	12	18	1	1	0	1	0	0	0	2	0	2	0	6	4	2	2	6	4	0	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:118772974G>C	ENST00000334801.3	-	6	2442	c.1478C>G	c.(1477-1479)cCg>cGg	p.P493R	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	493	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-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)		GTCCCCACCCGGGGGGTGCCC	0.622																																																	0													58	71	66					11																	118772974		2188	4274	6462	SO:0001583	missense	0			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.1478C>G	11.37:g.118772974G>C	ENSP00000335320:p.Pro493Arg		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P493R	ENST00000334801.3	37	c.1478	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	9.340	1.062886	0.19987	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.77098	-1.07	4.62	2.61	0.31194	.	0.551265	0.13859	N	0.357808	T	0.66752	0.2821	L	0.46157	1.445	0.34160	D	0.668593	B;B	0.30406	0.023;0.278	B;B	0.29176	0.041;0.099	T	0.63475	-0.6629	10	0.23302	T	0.38	-9.0744	6.5931	0.22658	0.0846:0.0:0.5811:0.3343	.	488;493	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	R	493;456;493;493	ENSP00000335320:P493R	ENSP00000335320:P493R	P	-	2	0	BCL9L	118278184	0.999000	0.42202	0.519000	0.27824	0.823000	0.46562	3.219000	0.51200	0.482000	0.27582	0.305000	0.20034	CCG	BCL9L	-	NULL	ENSG00000186174		0.622	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1		0	23	0	G	NM_182557		118772974	-1			no_errors	ENST00000334801	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.944	C	C	118772974	G	C	118772974	3	2	154	1	0	0	0	0	1	0	0	0	1383	1116	39	5	3033	5	BCL9L	11	118772974	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	12968461	118772974	16233542	120	39310											
JAM3	83700	genome.wustl.edu	37	chr11	134014150	134014150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaggagacttggcgggtCgtgcagaaatactggggaag	10	8	17	6	2	0	2	0	0	0	2	1	4	0	3	0	5	2	2	0	5	4	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:134014150C>T	ENST00000299106.4	+	4	430	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	JAM3_ENST00000529443.2_Missense_Mutation_p.R136C|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Intron			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	91	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)		CTTGGCGGGTCGTGCAGAAAT	0.483																																																	0													109	100	103					11																	134014150		2201	4297	6498	SO:0001583	missense	0			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.271C>T	11.37:g.134014150C>T	ENSP00000299106:p.Arg91Cys		B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R136C	ENST00000299106.4	37	c.406	CCDS8494.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.049575|4.049575	0.75846|0.75846	.|.	.|.	ENSG00000166086|ENSG00000166086	ENST00000299106|ENST00000534549	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83968|0.83968	0.5369|0.5369	M|M	0.89353|0.89353	3.025|3.025	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.86424|0.86424	0.1756|0.1756	9|5	0.87932|.	D|.	0|.	.|.	17.5125|17.5125	0.87764|0.87764	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	91|.	Q9BX67|.	JAM3_HUMAN|.	C|L	136|35	.|.	ENSP00000299106:R136C|.	R|S	+|+	1|2	0|0	JAM3|JAM3	133519360|133519360	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.795000|0.795000	0.44927|0.44927	4.742000|4.742000	0.62103|0.62103	2.583000|2.583000	0.87209|0.87209	0.561000|0.561000	0.74099|0.74099	CGT|TCG	JAM3	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000166086		0.483	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	JAM3	HGNC	protein_coding	OTTHUMT00000393303.4	-	0	46	0	C	NM_032801		134014150	1	tier1	-	no_errors	ENST00000529443	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.995	T	T	134014150	C	T	134014150	3	4	154	1	0	0	0	0	1	0	0	0	7971	884	31	1	420	1	JAM3	11	134014150	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	15241176	134014150	992366	121	39311											
CACNA1C	775	genome.wustl.edu	37	chr12	2690840	2690840	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctccttctcctcttcctCttcatcatcatcttctccct	3	18	1	19	0	8	0	3	0	5	0	12	0	10	0	4	0	1	1	4	0	0	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:2690840C>G	ENST00000347598.4	+	14	1980	c.1980C>G	c.(1978-1980)ctC>ctG	p.L660L	CACNA1C_ENST00000399617.1_Silent_p.L660L|CACNA1C_ENST00000399644.1_Silent_p.L660L|CACNA1C_ENST00000480911.1_Silent_p.L660L|CACNA1C_ENST00000399641.1_Silent_p.L660L|CACNA1C_ENST00000327702.7_Silent_p.L660L|CACNA1C_ENST00000399649.1_Silent_p.L660L|CACNA1C_ENST00000406454.3_Silent_p.L660L|CACNA1C_ENST00000399634.1_Silent_p.L660L|CACNA1C_ENST00000335762.5_Silent_p.L685L|CACNA1C_ENST00000402845.3_Silent_p.L660L|CACNA1C_ENST00000399629.1_Silent_p.L660L|CACNA1C_ENST00000399638.1_Silent_p.L660L|CACNA1C_ENST00000399637.1_Silent_p.L660L|CACNA1C_ENST00000399595.1_Silent_p.L660L|CACNA1C_ENST00000399603.1_Silent_p.L660L|CACNA1C_ENST00000399655.1_Silent_p.L660L|CACNA1C_ENST00000399606.1_Silent_p.L660L|CACNA1C_ENST00000344100.3_Silent_p.L660L|CACNA1C_ENST00000399591.1_Silent_p.L660L|CACNA1C_ENST00000399621.1_Silent_p.L660L|CACNA1C_ENST00000399601.1_Silent_p.L660L|CACNA1C_ENST00000399597.1_Silent_p.L660L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	660	Poly-Leu.				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)	tcctcttcctcttcatcatca	0.537																																																	0													116	117	116					12																	2690840		2202	4300	6502	SO:0001819	synonymous_variant	0			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.1980C>G	12.37:g.2690840C>G			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L660	ENST00000347598.4	37	c.1980	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom	ENSG00000151067		0.537	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0	71	0	C	NM_000719		2690840	1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	silent	37.84	46	28	SNP	1.000	G	G	2690840	C	G	2690840	2	3	154	1	0	0	0	0	0	0	0	1	2547	900	32	5		5	CACNA1C	12	2690840	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09		2690840	131161055	122	39312											
AKAP3	10566	genome.wustl.edu	37	chr12	4737281	4737281	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaacctctttctctcccGaggaaagaaccttccaccct	10	10	5	16	2	2	1	0	0	2	1	6	4	4	2	5	1	2	0	5	1	3	2	rs199990710		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:4737281G>T	ENST00000545990.2	-	5	1311	c.787C>A	c.(787-789)Cgg>Agg	p.R263R	AKAP3_ENST00000228850.1_Silent_p.R263R|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	263					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTTCTCTCCCGAGGAAAGAAC	0.448																																																	0													86	83	84					12																	4737281		2203	4300	6503	SO:0001819	synonymous_variant	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.787C>A	12.37:g.4737281G>T			O75945|Q86X01|Q9UM61	Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.R263	ENST00000545990.2	37	c.787	CCDS8531.1	12																																																																																			AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.448	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	-	0	39	0	G	NM_006422		4737281	-1	tier1	-	no_errors	ENST00000228850	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.007	T	T	4737281	G	T	4737281	2	4	154	1	0	0	0	0	0	0	0	1	452	1057	37	2		2	AKAP3	12	4737281	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	2046441	4737281	129114614	123	39313											
PDE3A	5139	genome.wustl.edu	37	chr12	20523043	20523043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcatttggggtcccagctGattgctgggaccaaggaaga	10	8	15	8	0	0	2	0	1	0	1	1	5	1	4	2	4	3	3	2	4	2	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGTCCCAGCTGATTGCTGGGA	0.627																																																	1	Substitution - coding silent(1)	urinary_tract(1)											26	32	30					12																	20523043		2192	4269	6461	SO:0001819	synonymous_variant	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.825G>A	12.37:g.20523043G>A			O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.L275	ENST00000359062.3	37	c.825	CCDS31754.1	12																																																																																			PDE3A	-	NULL	ENSG00000172572		0.627	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2		0	12	0	G			20523043	1			no_errors	ENST00000359062	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.011	A	A	20523043	G	A	20523043	2	1	154	1	0	0	0	0	0	0	0	1	11676	1277	45	3		3	PDE3A	12	20523043	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	15785762	20523043	113328852	124	39314											
ANO6	196527	genome.wustl.edu	37	chr12	45741883	45741883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgtacgtatgctgagataAtgcacatcaaattgcctctg	12	13	8	8	1	2	1	1	1	1	1	2	2	2	1	1	0	4	4	1	0	5	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:45741883A>G	ENST00000320560.8	+	5	620	c.418A>G	c.(418-420)Atg>Gtg	p.M140V	ANO6_ENST00000441606.2_Missense_Mutation_p.M122V|ANO6_ENST00000423947.3_Missense_Mutation_p.M161V|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.M140V|ANO6_ENST00000435642.1_Missense_Mutation_p.M140V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	140					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						TGCTGAGATAATGCACATCAA	0.408																																																	0													107	107	107					12																	45741883		2203	4300	6503	SO:0001583	missense	0			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.418A>G	12.37:g.45741883A>G	ENSP00000320087:p.Met140Val		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.M140V	ENST00000320560.8	37	c.418	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	A	9.342	1.063232	0.19987	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.18	2.77	0.32553	.	0.150124	0.64402	D	0.000010	T	0.64371	0.2592	M	0.77313	2.365	0.40268	D	0.978255	B;B;B;P	0.35077	0.255;0.029;0.38;0.483	B;B;B;B	0.35114	0.075;0.029;0.082;0.196	T	0.63659	-0.6587	10	0.54805	T	0.06	.	8.5697	0.33561	0.8007:0.1306:0.0687:0.0	.	122;161;140;140	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	V	140;161;140;140;122	ENSP00000391417:M140V;ENSP00000409126:M161V;ENSP00000413840:M140V;ENSP00000320087:M140V;ENSP00000413137:M122V	ENSP00000320087:M140V	M	+	1	0	ANO6	44028150	1.000000	0.71417	0.986000	0.45419	0.150000	0.21749	3.559000	0.53756	0.476000	0.27440	-0.290000	0.09829	ATG	ANO6	-	NULL	ENSG00000177119		0.408	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	-	0	30	0	A	XM_113743		45741883	1	tier1	-	no_errors	ENST00000425752	ensembl	human	known	74_37	missense	45.71	19	16	SNP	1.000	G	G	45741883	A	G	45741883	3	3	154	1	0	0	0	0	1	0	0	0	701	101	4	4	456	4	ANO6	12	45741883	Missense_Mutation	SNP	A	TCGA-S8-A6BW-01A-11D-A31U-09	25218840	45741883	88110012	125	39315											
MON2	23041	genome.wustl.edu	37	chr12	62902072	62902072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccttgcaaatagcaccaaGaatttagtttcctcctcaaa	13	13	4	11	0	1	1	1	0	0	1	4	1	4	1	4	0	2	3	4	0	6	6			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:62902072G>A	ENST00000393632.2	+	8	1187	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MON2_ENST00000393629.2_Missense_Mutation_p.E266K|MON2_ENST00000546600.1_Missense_Mutation_p.E266K|MON2_ENST00000280379.6_Missense_Mutation_p.E266K|MON2_ENST00000552115.1_Missense_Mutation_p.E266K|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.E266K|MON2_ENST00000393630.3_Missense_Mutation_p.E266K	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	266					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)		ATAGCACCAAGAATTTAGTTT	0.333																																																	0													83	81	81					12																	62902072		2203	4299	6502	SO:0001583	missense	0				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.796G>A	12.37:g.62902072G>A	ENSP00000377252:p.Glu266Lys		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold	p.E266K	ENST00000393632.2	37	c.796	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.328012	0.95733	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66460	-0.21;0.92;0.92;-0.21;-0.21;0.92;0.92	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84946	0.5585	M	0.88842	2.985	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0	D;D;D;D;D	0.79784	0.986;0.982;0.982;0.988;0.993	D	0.87097	0.2176	9	.	.	.	-16.1496	18.9162	0.92507	0.0:0.0:1.0:0.0	.	266;266;266;266;266	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4;Q7Z3U7	.;.;.;.;MON2_HUMAN	K	266;266;266;266;194;266;266;266	ENSP00000377252:E266K;ENSP00000377250:E266K;ENSP00000280379:E266K;ENSP00000447407:E266K;ENSP00000449215:E266K;ENSP00000377249:E266K;ENSP00000446635:E266K	.	E	+	1	0	MON2	61188339	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	9.738000	0.98835	2.546000	0.85860	0.563000	0.77884	GAA	MON2	-	superfamily_ARM-type_fold	ENSG00000061987		0.333	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	-	0	45	0	G	NM_015026		62902072	1	tier1	-	no_errors	ENST00000393630	ensembl	human	known	74_37	missense	17.20	77	16	SNP	1.000	A	A	62902072	G	A	62902072	3	1	154	1	0	0	0	0	1	0	0	0	9738	943	33	3	826	3	MON2	12	62902072	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	17160189	62902072	70949823	126	39316											
SRGAP1	57522	genome.wustl.edu	37	chr12	64456779	64456779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacaaccttgaaacctccaGacatgagggcttagacatta	14	9	8	10	0	0	4	0	2	0	2	1	4	1	4	3	1	3	2	3	1	5	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:64456779G>A	ENST00000355086.3	+	7	1408	c.884G>A	c.(883-885)aGa>aAa	p.R295K	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R255K|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R295K|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	295	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)		GAAACCTCCAGACATGAGGGC	0.443																																																	0													105	96	99					12																	64456779		2203	4300	6503	SO:0001583	missense	0			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.884G>A	12.37:g.64456779G>A	ENSP00000347198:p.Arg295Lys		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R295K	ENST00000355086.3	37	c.884	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451031	0.63290	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.53206	0.63;0.63;0.63	4.65	4.65	0.58169	.	0.000000	0.38005	U	0.001853	T	0.36413	0.0966	N	0.21097	0.63	0.80722	D	1	B;B;B	0.15473	0.004;0.006;0.013	B;B;B	0.20577	0.004;0.03;0.03	T	0.10042	-1.0647	9	.	.	.	.	18.8491	0.92220	0.0:0.0:1.0:0.0	.	295;255;295	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	K	295;295;255	ENSP00000347198:R295K;ENSP00000350480:R295K;ENSP00000437948:R255K	.	R	+	2	0	SRGAP1	62743046	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.519000	0.98025	2.868000	0.98415	0.557000	0.71058	AGA	SRGAP1	-	NULL	ENSG00000196935		0.443	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	-	0	58	0	G			64456779	1	tier1	-	no_errors	ENST00000355086	ensembl	human	known	74_37	missense	16.67	65	13	SNP	1.000	A	A	64456779	G	A	64456779	3	1	154	1	0	0	0	0	1	0	0	0	15192	942	33	3	910	3	SRGAP1	12	64456779	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	1554707	64456779	69395116	127	39317											
XPOT	11260	genome.wustl.edu	37	chr12	64823865	64823865	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttactgagcagcgatgatCaactttttatttatgagaca	12	14	7	8	1	1	3	1	3	0	1	1	5	1	3	1	0	4	1	1	0	4	6			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:64823865C>T	ENST00000332707.5	+	17	2303	c.1774C>T	c.(1774-1776)Caa>Taa	p.Q592*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	592	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)		CAGCGATGATCAACTTTTTAT	0.363																																																	0													75	74	74					12																	64823865		2203	4300	6503	SO:0001587	stop_gained	0			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.1774C>T	12.37:g.64823865C>T	ENSP00000327821:p.Gln592*		A6NLH1|O43784|Q8WUG2|Q9BVS7	Nonsense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.Q592*	ENST00000332707.5	37	c.1774	CCDS31852.1	12	.	.	.	.	.	.	.	.	.	.	C	41	8.987976	0.99027	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	.	.	.	5.28	5.28	0.74379	.	0.110120	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2838	0.94063	0.0:1.0:0.0:0.0	.	.	.	.	X	592;114	.	.	Q	+	1	0	XPOT	63110132	1.000000	0.71417	0.964000	0.40570	0.533000	0.34776	7.402000	0.79972	2.646000	0.89796	0.650000	0.86243	CAA	XPOT	-	superfamily_ARM-type_fold	ENSG00000184575		0.363	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1	-	0	45	0	C	NM_007235		64823865	1	tier1	-	no_errors	ENST00000332707	ensembl	human	known	74_37	nonsense	10.00	125	14	SNP	1.000	T	T	64823865	C	T	64823865	4	4	154	1	0	0	0	0	0	1	0	0	17499	827	29	3	1836	3	XPOT	12	64823865	Nonsense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	367086	64823865	69028030	128	39318											
GRIP1	23426	genome.wustl.edu	37	chr12	66932939	66932939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgatctcgtcatggcGgaatttggccaggttgattc	7	13	13	8	2	2	3	1	3	1	0	4	4	2	4	1	4	0	2	1	4	1	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:66932939G>A	ENST00000398016.3	-	4	405	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	GRIP1_ENST00000359742.4_Missense_Mutation_p.R113C|GRIP1_ENST00000286445.7_Missense_Mutation_p.R113C	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	158	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)		TCGTCATGGCGGAATTTGGCC	0.483																																																	0													217	207	210					12																	66932939		1981	4159	6140	SO:0001583	missense	0			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.337C>T	12.37:g.66932939G>A	ENSP00000381098:p.Arg113Cys		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R113C	ENST00000398016.3	37	c.337	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744765	0.69418	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947	T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	4.55	4.55	0.56014	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.99	T	0.64283	-0.6444	9	.	.	.	-11.7089	17.7295	0.88373	0.0:0.0:1.0:0.0	.	113;113;113	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	C	113;113;113;113;57;57;86;57;57;139	ENSP00000381098:R113C;ENSP00000352780:R113C;ENSP00000286445:R113C;ENSP00000446047:R113C;ENSP00000446024:R57C;ENSP00000446011:R57C;ENSP00000439124:R86C;ENSP00000438500:R57C;ENSP00000443392:R57C;ENSP00000438921:R139C	.	R	-	1	0	GRIP1	65219206	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.407000	0.66363	2.263000	0.75096	0.467000	0.42956	CGC	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000155974		0.483	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	-	0	53	0	G			66932939	-1	tier1	-	no_errors	ENST00000359742	ensembl	human	known	74_37	missense	6.80	96	7	SNP	1.000	A	A	66932939	G	A	66932939	3	1	154	1	0	0	0	0	1	0	0	0	6814	1116	39	1	2977	1	GRIP1	12	66932939	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	2109074	66932939	66918956	129	39319											
NUP107	57122	genome.wustl.edu	37	chr12	69109443	69109443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagacagaaaatgccccttGatgatctggatagagaagat	16	9	10	6	0	1	6	0	2	1	4	1	8	1	7	2	1	1	0	2	1	5	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:69109443G>A	ENST00000229179.4	+	12	1338	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	NUP107_ENST00000539906.1_Missense_Mutation_p.D307N|NUP107_ENST00000378905.2_Missense_Mutation_p.D185N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	336					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AATGCCCCTTGATGATCTGGA	0.373																																																	0													165	169	168					12																	69109443		2203	4300	6503	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1006G>A	12.37:g.69109443G>A	ENSP00000229179:p.Asp336Asn		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.D336N	ENST00000229179.4	37	c.1006	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930754	0.52866	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	4.91	4.91	0.64330	.	0.234803	0.45606	N	0.000351	T	0.73140	0.3549	L	0.59436	1.845	0.58432	D	0.999995	P;P;P	0.51240	0.91;0.943;0.85	P;P;P	0.57846	0.676;0.828;0.58	T	0.72312	-0.4331	8	.	.	.	-19.7351	18.4646	0.90750	0.0:0.0:1.0:0.0	.	307;185;336	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	N	336;185;307	.	.	D	+	1	0	NUP107	67395710	1.000000	0.71417	0.999000	0.59377	0.665000	0.39181	9.053000	0.93860	2.452000	0.82932	0.563000	0.77884	GAT	NUP107	-	pfam_Nup84_Nup100	ENSG00000111581		0.373	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	-	0	59	0	G	NM_020401		69109443	1	tier1	-	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	34.56	195	103	SNP	1.000	A	A	69109443	G	A	69109443	3	1	154	1	0	0	0	0	1	0	0	0	10792	1290	45	3	1052	3	NUP107	12	69109443	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	2176504	69109443	64742452	130	39320											
PPFIA2	8499	genome.wustl.edu	37	chr12	81760937	81760937	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgaaagtttctgattcttGaattaaaacattctaaagaa	16	15	5	5	0	4	4	0	3	4	1	4	4	4	4	0	0	1	1	0	0	7	6			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:81760937G>C	ENST00000549396.1	-	14	1655	c.1495C>G	c.(1495-1497)Caa>Gaa	p.Q499E	PPFIA2_ENST00000541570.2_Missense_Mutation_p.Q66E|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q425E|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q481E|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q481E|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q346E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q499E|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q499E|PPFIA2_ENST00000550584.2_Missense_Mutation_p.Q499E|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q400E|PPFIA2_ENST00000541017.1_5'UTR	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	499	Glu-rich.				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						TCTGATTCTTGAATTAAAACA	0.214																																																	0													21	18	19					12																	81760937		1409	3225	4634	SO:0001583	missense	0			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.1495C>G	12.37:g.81760937G>C	ENSP00000450337:p.Gln499Glu		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Q499E	ENST00000549396.1	37	c.1495	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205234	0.39003	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058;ENST00000548670	T;T;T;T;T;T;T;T;T	0.44881	2.24;2.23;1.9;1.92;2.24;2.24;1.9;2.25;0.91	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	L	0.40543	1.245	0.80722	D	1	B	0.26744	0.158	B	0.19148	0.024	T	0.08848	-1.0702	10	0.32370	T	0.25	-23.5003	19.5675	0.95401	0.0:0.0:1.0:0.0	.	499	O75334	LIPA2_HUMAN	E	499;481;66;425;510;481;499;400;499;80;66	ENSP00000450337:Q499E;ENSP00000450298:Q481E;ENSP00000438337:Q66E;ENSP00000385093:Q425E;ENSP00000327416:Q481E;ENSP00000449338:Q499E;ENSP00000388373:Q400E;ENSP00000447868:Q499E;ENSP00000448941:Q80E	ENSP00000327416:Q481E	Q	-	1	0	PPFIA2	80285068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.068000	0.93961	2.707000	0.92482	0.637000	0.83480	CAA	PPFIA2	-	NULL	ENSG00000139220		0.214	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0	99	0	G			81760937	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	67.06	27	57	SNP	1.000	C	C	81760937	G	C	81760937	3	2	154	1	0	0	0	0	1	0	0	0	12349	1299	45	5	2354	5	PPFIA2	12	81760937	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	12651494	81760937	52090958	131	39321											
TXNRD1	7296	genome.wustl.edu	37	chr12	104682792	104682792	+	Missense_Mutation	SNP	A	A	T	1	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	tgtttgtgaaacagagaaagAtaggcggccatggtccaacc	13	8	12	8	1	0	3	0	1	0	2	1	4	1	3	3	3	2	1	3	3	4	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:104682792A>T	ENST00000525566.1	+	4	412	c.388A>T	c.(388-390)Ata>Tta	p.I130L	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000397736.2_5'Flank|TXNRD1_ENST00000378070.4_Missense_Mutation_p.I79L|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000388854.3_Missense_Mutation_p.I32L|TXNRD1_ENST00000542918.1_Missense_Mutation_p.I30L|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000429002.2_Missense_Mutation_p.I130L|TXNRD1_ENST00000526691.1_Missense_Mutation_p.I32L	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	130	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				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)	ACAGAGAAAGATAGGCGGCCA	0.542																																					Ovarian(139;555 1836 9186 9946 10884)												0													113	118	116					12																	104682792		1899	4114	6013	SO:0001583	missense	0				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		ENST00000525566.1:c.388A>T	12.37:g.104682792A>T	ENSP00000434516:p.Ile130Leu		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.I130L	ENST00000525566.1	37	c.388	CCDS53820.1	12	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327689	0.41197	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526691;ENST00000388854;ENST00000542918;ENST00000378070	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	3.75	-5.03	0.02973	Glutaredoxin (1);Thioredoxin-like fold (2);	0.689509	0.14418	N	0.320826	T	0.27866	0.0686	L	0.49513	1.565	0.27706	N	0.94562	B;B;B	0.12013	0.003;0.002;0.005	B;B;B	0.20577	0.005;0.011;0.03	T	0.24048	-1.0171	10	0.23302	T	0.38	-0.0531	13.0271	0.58821	0.3264:0.6736:0.0:0.0	.	30;32;130	B7Z2S5;Q16881-4;Q16881	.;.;TRXR1_HUMAN	L	130;130;32;32;30;79	ENSP00000434516:I130L;ENSP00000412045:I130L;ENSP00000435929:I32L;ENSP00000373506:I32L;ENSP00000440978:I30L;ENSP00000367310:I79L	ENSP00000367310:I79L	I	+	1	0	TXNRD1	103206922	0.440000	0.25618	0.037000	0.18230	0.968000	0.65278	-0.001000	0.12947	-1.044000	0.03254	0.369000	0.22263	ATA	TXNRD1	-	superfamily_Thioredoxin-like_fold	ENSG00000198431		0.542	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389960.1	-	0	36	0	A	NM_003330		104682792	1	tier1	-	no_errors	ENST00000429002	ensembl	human	known	74_37	missense	65.38	9	17	SNP	0.062	T	T	104682792	A	T	104682792	3	4	154	1	0	0	0	0	1	0	0	0	16856	333	12	5	416	5	TXNRD1	12	104682792	Missense_Mutation	SNP	A	TCGA-S8-A6BW-01A-11D-A31U-09	22921855	104682792	29169103	132	39322											
AACS	65985	genome.wustl.edu	37	chr12	125591780	125591780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	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	catgttctcatcgggcaccaCgggcgcacccaagtgcatgg	8	7	12	14	3	1	0	1	0	1	0	3	0	1	0	2	3	1	4	2	3	1	1	rs371263015		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:125591780C>G	ENST00000316519.6	+	8	1087	c.881C>G	c.(880-882)aCg>aGg	p.T294R	AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Missense_Mutation_p.T294R	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	294					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCGGGCACCACGGGCGCACCC	0.622																																																	0													78	70	73					12																	125591780		2203	4300	6503	SO:0001583	missense	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.881C>G	12.37:g.125591780C>G	ENSP00000324842:p.Thr294Arg		Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	p.T294R	ENST00000316519.6	37	c.881	CCDS9263.1	12	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727732	0.48833	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537564;ENST00000441247	T;T;T;D	0.81739	0.6;0.6;0.6;-1.53	5.45	4.56	0.56223	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.93854	3.465	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.73380	0.972;0.98	D	0.93548	0.6884	10	0.87932	D	0	.	14.1173	0.65161	0.0:0.9267:0.0:0.0732	.	294;294	Q86V21-2;Q86V21	.;AACS_HUMAN	R	294;294;150;75;113	ENSP00000324842:T294R;ENSP00000261686:T294R;ENSP00000442956:T75R;ENSP00000392967:T113R	ENSP00000261686:T294R	T	+	2	0	AACS	124157733	1.000000	0.71417	0.170000	0.22879	0.012000	0.07955	5.372000	0.66156	1.304000	0.44892	-0.215000	0.12644	ACG	AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	ENSG00000081760		0.622	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	-	0	44	0	C	NM_023928		125591780	1	tier1	-	no_errors	ENST00000316519	ensembl	human	known	74_37	missense	48.57	18	17	SNP	0.994	G	G	125591780	C	G	125591780	3	3	154	1	0	0	0	0	1	0	0	0	9	536	19	5	911	5	AACS	12	125591780	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	20908988	125591780	8260115	133	39323											
WBP4	11193	genome.wustl.edu	37	chr13	41654920	41654920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccatatggagaatggcaaGaaattaaacaagaggttgag	18	7	11	5	0	0	4	0	1	0	3	0	5	0	4	1	3	1	2	1	3	7	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr13:41654920G>A	ENST00000379487.3	+	9	1295	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	WBP4_ENST00000542082.1_Missense_Mutation_p.E278K	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	299					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)		AGAATGGCAAGAAATTAAACA	0.333																																																	0													119	120	119					13																	41654920		2203	4299	6502	SO:0001583	missense	0			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.895G>A	13.37:g.41654920G>A	ENSP00000368801:p.Glu299Lys		B7Z4M2|Q32P29	Missense_Mutation	SNP	pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin	p.E299K	ENST00000379487.3	37	c.895	CCDS9375.1	13	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881370	0.51801	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	.	.	.	5.64	4.79	0.61399	.	0.618297	0.17332	N	0.178083	T	0.50222	0.1603	L	0.60455	1.87	0.34120	D	0.663965	P;P	0.48764	0.734;0.915	B;P	0.45071	0.257;0.468	T	0.56703	-0.7935	9	0.17832	T	0.49	-10.4901	11.9568	0.52986	0.0808:0.0:0.9192:0.0	.	278;299	B7Z4M2;O75554	.;WBP4_HUMAN	K	299;278	.	ENSP00000368801:E299K	E	+	1	0	WBP4	40552920	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.994000	0.49433	2.660000	0.90430	0.561000	0.74099	GAA	WBP4	-	NULL	ENSG00000120688		0.333	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP4	HGNC	protein_coding	OTTHUMT00000044655.2	-	0	42	0	G	NM_007187		41654920	1	tier1	-	no_errors	ENST00000379487	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A	A	41654920	G	A	41654920	3	1	154	1	0	0	0	0	1	0	0	0	17310	943	33	3	929	3	WBP4	13	41654920	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09		41654920	73514958	134	39324											
DNAJC15	29103	genome.wustl.edu	37	chr13	43659934	43659934	+	Silent	SNP	A	A	G	1	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	ggcaaggctaagattagaacAgctcataggagagtcatgat	15	8	12	6	0	2	4	2	1	0	3	2	5	2	4	0	3	2	3	0	3	5	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr13:43659934A>G	ENST00000379221.2	+	5	766	c.342A>G	c.(340-342)acA>acG	p.T114T		NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	114	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		AGATTAGAACAGCTCATAGGA	0.318																																																	0													78	78	78					13																	43659934		2203	4299	6502	SO:0001819	synonymous_variant	0			AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"Heat shock proteins / DNAJ (HSP40)"	20325	protein-coding gene	gene with protein product		615339	"DnaJ (Hsp40) homolog, subfamily D, member 1"	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.342A>G	13.37:g.43659934A>G			B2R4L0|Q5T219|Q6X963	Silent	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain	p.T114	ENST00000379221.2	37	c.342	CCDS9388.1	13																																																																																			DNAJC15	-	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain	ENSG00000120675		0.318	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC15	HGNC	protein_coding	OTTHUMT00000044709.2	-	0	24	0	A	NM_013238		43659934	1	tier1	-	no_errors	ENST00000379221	ensembl	human	known	74_37	silent	18.18	18	4	SNP	1.000	G	G	43659934	A	G	43659934	2	3	154	1	0	0	0	0	0	0	0	1	4648	175	7	4		4	DNAJC15	13	43659934	Silent	SNP	A	TCGA-S8-A6BW-01A-11D-A31U-09	2005014	43659934	71509944	135	39325											
PCDH9	5101	genome.wustl.edu	37	chr13	66878818	66878818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccttaggactctcagtaGcacctcctgcttgcttataa	8	13	7	13	0	1	0	1	0	1	0	4	1	3	1	3	1	3	5	3	1	4	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr13:66878818G>T	ENST00000377865.2	-	4	3817	c.3683C>A	c.(3682-3684)gCt>gAt	p.A1228D	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.A1228D|PCDH9_ENST00000456367.1_Missense_Mutation_p.A1194D|PCDH9_ENST00000328454.5_Missense_Mutation_p.A1194D			Q9HC56	PCDH9_HUMAN	protocadherin 9	1228					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACTCTCAGTAGCACCTCCTGC	0.438																																																	0													115	109	111					13																	66878818		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3683C>A	13.37:g.66878818G>T	ENSP00000367096:p.Ala1228Asp		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A1228D	ENST00000377865.2	37	c.3683	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272383	0.40194	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.57273	0.48;0.48;0.41;0.41	6.05	6.05	0.98169	.	0.452878	0.18838	N	0.129745	T	0.39600	0.1084	N	0.08118	0	0.38883	D	0.956945	B;B;B	0.21452	0.032;0.054;0.056	B;B;B	0.22601	0.018;0.04;0.018	T	0.29212	-1.0019	10	0.48119	T	0.1	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	1186;1194;1228	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	D	1228;1228;1194;1194	ENSP00000442186:A1228D;ENSP00000367096:A1228D;ENSP00000401699:A1194D;ENSP00000332060:A1194D	ENSP00000332060:A1194D	A	-	2	0	PCDH9	65776819	1.000000	0.71417	0.704000	0.30370	0.974000	0.67602	6.109000	0.71528	2.878000	0.98634	0.650000	0.86243	GCT	PCDH9	-	NULL	ENSG00000184226		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	29	0	G	NM_203487		66878818	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	19.35	25	6	SNP	0.990	T	T	66878818	G	T	66878818	3	4	154	1	0	0	0	0	1	0	0	0	11557	971	34	3	34	3	PCDH9	13	66878818	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	23218884	66878818	48291060	136	39326											
OR4K2	390431	genome.wustl.edu	37	chr14	20345270	20345270	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataccatctttactcccactCtgaacccaataatctatact	13	13	1	14	0	3	1	0	1	3	0	4	1	4	1	3	0	4	0	3	0	7	6			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:20345270C>T	ENST00000298642.2	+	1	880	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, 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)	p.L282M(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTCCCACTCTGAACCCAAT	0.373																																																	1	Substitution - Missense(1)	lung(1)											111	117	115					14																	20345270		2203	4300	6503	SO:0001819	synonymous_variant	0				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.844C>T	14.37:g.20345270C>T			B2RNK8|Q6IFA5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L282	ENST00000298642.2	37	c.844	CCDS32023.1	14																																																																																			OR4K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000165762		0.373	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K2	HGNC	protein_coding	OTTHUMT00000409864.1		0	37	0	C			20345270	1			no_errors	ENST00000298642	ensembl	human	known	74_37	silent	8.33	33	3	SNP	0.003	T	T	20345270	C	T	20345270	2	4	154	1	0	0	0	0	0	0	0	1	11111	912	32	3		3	OR4K2	14	20345270	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09		20345270	87004270	137	39327											
LRP10	26020	genome.wustl.edu	37	chr14	23345472	23345472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctcctatgttctgcccCgcaaggtcattacagctgca	8	11	8	14	1	2	0	1	0	1	0	3	0	3	0	3	1	5	5	3	1	3	3	rs370278128		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:23345472C>A	ENST00000359591.4	+	5	2006	c.1315C>A	c.(1315-1317)Cgc>Agc	p.R439S	LRP10_ENST00000546834.1_Missense_Mutation_p.R439S	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	439					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)		TGTTCTGCCCCGCAAGGTCAT	0.607																																																	0													167	148	154					14																	23345472		2203	4300	6503	SO:0001583	missense	0			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.1315C>A	14.37:g.23345472C>A	ENSP00000352601:p.Arg439Ser		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.R439S	ENST00000359591.4	37	c.1315	CCDS9578.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.020225|4.020225	0.75275|0.75275	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	D|D;D	0.94966|0.94138	-3.57|-3.25;-3.36	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.047842	.|0.85682	.|D	.|0.000000	D|D	0.93265|0.93265	0.7854|0.7854	N|N	0.13299|0.13299	0.325|0.325	0.53688|0.53688	D|D	0.999977|0.999977	.|D	.|0.76494	.|0.999	.|D	.|0.68621	.|0.959	D|D	0.93126|0.93126	0.6529|0.6529	7|10	0.46703|0.39692	T|T	0.11|0.17	-25.1666|-25.1666	19.1994|19.1994	0.93704|0.93704	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|439	.|Q7Z4F1	.|LRP10_HUMAN	Q|S	340|439	ENSP00000447977:P340Q|ENSP00000352601:R439S;ENSP00000447559:R439S	ENSP00000447977:P340Q|ENSP00000352601:R439S	P|R	+|+	2|1	0|0	LRP10|LRP10	22415312|22415312	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	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CCG|CGC	LRP10	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000197324		0.607	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP10	HGNC	protein_coding	OTTHUMT00000071663.3	-	0	11	0	C			23345472	1	tier1	-	no_errors	ENST00000359591	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	A	A	23345472	C	A	23345472	3	1	154	1	0	0	0	0	1	0	0	0	8987	652	23	2	1333	2	LRP10	14	23345472	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	3000202	23345472	84004068	138	39328											
SMOC1	64093	genome.wustl.edu	37	chr14	70477552	70477552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgagggtattgtcatccCtgaatgtgcccctgggggac	6	10	14	11	1	1	2	1	2	0	0	2	3	2	3	4	3	1	1	4	3	2	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:70477552C>T	ENST00000381280.4	+	8	999	c.746C>T	c.(745-747)cCt>cTt	p.P249L	SMOC1_ENST00000361956.3_Missense_Mutation_p.P249L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	249	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.P249H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATTGTCATCCCTGAATGTGCC	0.592																																																	1	Substitution - Missense(1)	lung(1)											101	106	104					14																	70477552		2203	4300	6503	SO:0001583	missense	0			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.746C>T	14.37:g.70477552C>T	ENSP00000370680:p.Pro249Leu		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.P249L	ENST00000381280.4	37	c.746	CCDS9798.1	14	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559010	0.86231	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	D;D	0.89343	-2.5;-2.5	5.47	5.47	0.80525	Thyroglobulin type-1 (5);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95452	0.8523	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95667	0.8720	10	0.87932	D	0	-13.5164	19.6781	0.95945	0.0:1.0:0.0:0.0	.	249;249	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	L	249	ENSP00000355110:P249L;ENSP00000370680:P249L	ENSP00000355110:P249L	P	+	2	0	SMOC1	69547305	1.000000	0.71417	0.991000	0.47740	0.497000	0.33675	7.776000	0.85560	2.728000	0.93425	0.557000	0.71058	CCT	SMOC1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000198732		0.592	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMOC1	HGNC	protein_coding	OTTHUMT00000412467.1		0	31	0	C			70477552	1			no_errors	ENST00000361956	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	70477552	C	T	70477552	3	4	154	1	0	0	0	0	1	0	0	0	14846	681	24	3	776	3	SMOC1	14	70477552	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	47132080	70477552	36871988	139	39329											
TSHR	7253	genome.wustl.edu	37	chr14	81609998	81609998	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatgcgcctggaccggaaGatccgcctcaggcacgcatg	8	5	13	15	4	1	1	1	0	0	1	2	3	2	3	5	3	1	2	5	3	1	0			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:81609998G>A	ENST00000541158.2	+	11	1918	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.K532K			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	532					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)	TGGACCGGAAGATCCGCCTCA	0.562			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													489	329	383					14																	81609998		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1596G>A	14.37:g.81609998G>A			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.K532	ENST00000541158.2	37	c.1596	CCDS9872.1	14																																																																																			TSHR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000165409		0.562	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	-	0	30	0	G	NM_000369		81609998	1	tier1	-	no_errors	ENST00000298171	ensembl	human	known	74_37	silent	30.77	27	12	SNP	1.000	A	A	81609998	G	A	81609998	2	1	154	1	0	0	0	0	0	0	0	1	16670	933	33	3		3	TSHR	14	81609998	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	11132446	81609998	25739542	140	39330											
ATG2B	55102	genome.wustl.edu	37	chr14	96752109	96752109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagtcatccccgtggcGccatttctgtgactcgtctt	5	13	8	15	3	4	1	2	1	2	0	6	1	5	1	4	1	0	0	4	1	0	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:96752109G>A	ENST00000359933.4	-	42	7113	c.6220C>T	c.(6220-6222)Cgc>Tgc	p.R2074C		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2074					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.R2074C(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)		TCCCCGTGGCGCCATTTCTGT	0.522																																																	1	Substitution - Missense(1)	urinary_tract(1)											131	99	110					14																	96752109		2203	4300	6503	SO:0001583	missense	0			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.6220C>T	14.37:g.96752109G>A	ENSP00000353010:p.Arg2074Cys		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R2074C	ENST00000359933.4	37	c.6220	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425088	0.83667	.	.	ENSG00000066739	ENST00000359933	T	0.15718	2.4	5.76	5.76	0.90799	Autophagy-related, C-terminal (1);	0.079346	0.64402	D	0.000007	T	0.46034	0.1372	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46428	-0.9192	10	0.87932	D	0	.	14.7746	0.69713	0.0:0.0:0.8557:0.1443	.	2074	Q96BY7	ATG2B_HUMAN	C	2074	ENSP00000353010:R2074C	ENSP00000353010:R2074C	R	-	1	0	ATG2B	95821862	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.814000	0.69208	2.713000	0.92767	0.655000	0.94253	CGC	ATG2B	-	pfam_Autophagy-rel_C	ENSG00000066739		0.522	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	-	0	15	0	G	NM_018036		96752109	-1	tier1	-	no_errors	ENST00000359933	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	A	A	96752109	G	A	96752109	3	1	154	1	0	0	0	0	1	0	0	0	1095	1087	38	1	20	1	ATG2B	14	96752109	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	15142111	96752109	10597431	141	39331											
HSP90AA1	3320	genome.wustl.edu	37	chr14	102552699	102552699	+	Missense_Mutation	SNP	T	T	A	0	1	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	ccatcggttggtcttgggtcTgggtttcctcaggcatctgg	3	14	14	10	1	4	0	1	0	3	0	6	0	5	0	2	6	0	3	2	6	0	3	rs372390355		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:102552699T>A	ENST00000216281.8	-	2	222	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	HSP90AA1_ENST00000441629.2_5'Flank|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.Q128L	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	6					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)	GTCTTGGGTCTGGGTTTCCTC	0.493																																																	0													91	93	92					14																	102552699		2203	4300	6503	SO:0001583	missense	0			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.17A>T	14.37:g.102552699T>A	ENSP00000216281:p.Gln6Leu		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Nonsense_Mutation	SNP	NULL	p.R58*	ENST00000216281.8	37	c.172	CCDS9967.1	14	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053803	0.75960	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000553585	T;T;T	0.43688	2.26;2.26;0.94	3.79	3.79	0.43588	.	0.608060	0.15206	U	0.274738	T	0.42966	0.1226	M	0.71581	2.175	0.80722	D	1	B;B	0.30211	0.13;0.273	B;B	0.26416	0.021;0.069	T	0.45848	-0.9233	10	0.52906	T	0.07	.	12.8341	0.57763	0.0:0.0:0.0:1.0	.	128;6	P07900-2;P07900	.;HS90A_HUMAN	L	6;128;6	ENSP00000216281:Q6L;ENSP00000335153:Q128L;ENSP00000450712:Q6L	ENSP00000216281:Q6L	Q	-	2	0	HSP90AA1	101622452	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	2.862000	0.48388	1.500000	0.48636	0.467000	0.42956	CAG	HSP90AA1	-	NULL	ENSG00000080824		0.493	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414952.2	-	0	22	0	T	NM_005348		102552699	-1	tier1	-	no_errors	ENST00000557234	ensembl	human	known	74_37	nonsense	40.62	19	13	SNP	1.000	A	A	102552699	T	A	102552699	3	1	154	1	0	0	0	0	1	0	0	0	7428	1580	55	5	2221	5	HSP90AA1	14	102552699	Missense_Mutation	SNP	T	TCGA-S8-A6BW-01A-11D-A31U-09	5800590	102552699	4796841	142	39332											
AHNAK2	113146	genome.wustl.edu	37	chr14	105406708	105406708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccttcattttgggaagtGcaagttttggcatggcaaag	11	12	12	6	0	1	0	1	0	0	0	1	1	1	1	1	3	2	4	1	3	4	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:105406708G>A	ENST00000333244.5	-	7	15199	c.15080C>T	c.(15079-15081)gCa>gTa	p.A5027V	AHNAK2_ENST00000557457.1_Missense_Mutation_p.A25V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5027						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)			TTTGGGAAGTGCAAGTTTTGG	0.557																																																	0													105	108	107					14																	105406708		2000	4166	6166	SO:0001583	missense	0			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.15080C>T	14.37:g.105406708G>A	ENSP00000353114:p.Ala5027Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A5027V	ENST00000333244.5	37	c.15080	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109564	0.37242	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02103	4.45;5.37	3.82	2.83	0.33086	.	.	.	.	.	T	0.05914	0.0154	L	0.50333	1.59	0.09310	N	1	D	0.62365	0.991	P	0.55824	0.785	T	0.37957	-0.9683	9	0.34782	T	0.22	.	11.2912	0.49252	0.0:0.2509:0.7491:0.0	.	5027	Q8IVF2	AHNK2_HUMAN	V	25;5027	ENSP00000450998:A25V;ENSP00000353114:A5027V	ENSP00000353114:A5027V	A	-	2	0	AHNAK2	104477753	0.002000	0.14202	0.003000	0.11579	0.075000	0.17131	1.182000	0.32029	1.861000	0.53984	0.561000	0.74099	GCA	AHNAK2	-	NULL	ENSG00000185567		0.557	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	40	0	G	NM_138420		105406708	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.001	A	A	105406708	G	A	105406708	3	1	154	1	0	0	0	0	1	0	0	0	415	1319	46	3	2311	3	AHNAK2	14	105406708	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	2854009	105406708	1942832	143	39333											
MFAP1	4236	genome.wustl.edu	37	chr15	44105232	44105233	+	Frame_Shift_Ins	INS	-	-	TTCC																															ttctttttagctctcgaactINSttccatgcctcatattcctc																										TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr15:44105232_44105233insTTCC	ENST00000267812.3	-	6	1071_1072	c.839_840insGGAA	c.(838-840)aaafs	p.-280fs		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1						extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCTCTCGAACTTTCCATGCCTC	0.426																																																	0																																										SO:0001589	frameshift_variant	0				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.836_839dupGGAA	15.37:g.44105233_44105236dupTTCC	ENSP00000267812:p.Lys280fs		Q86TG6	Frame_Shift_Ins	INS	pfam_MFAP1_C	p.V281fs	ENST00000267812.3	37	c.840_839	CCDS10105.1	15																																																																																			MFAP1	-	pfam_MFAP1_C	ENSG00000140259		0.426	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2		0	64	0	-	NM_005926		44105233	-1	tier1		no_errors	ENST00000267812	ensembl	human	known	74_37	frame_shift_ins	32.31	44	21	INS	1.000:1.000	TTCC	TTCC	44105233	-	TTCC	44105232	7	5	154	1	0	1	1	0	0	0	0	0	9551	1606	56	0	495	0	MFAP1	15	44105232	Frame_Shift_Ins	INS	-	TCGA-S8-A6BW-01A-11D-A31U-09		44105232	58426160	144	39334											
MYO5C	55930	genome.wustl.edu	37	chr15	52513403	52513403	+	Missense_Mutation	SNP	T	T	G	0	1	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	tcaggcggatttcaagatctTgcttctgtttctccaattct	7	17	7	10	1	6	1	2	0	4	1	7	2	6	2	1	2	1	2	1	2	2	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr15:52513403T>G	ENST00000261839.7	-	30	3838	c.3677A>C	c.(3676-3678)cAa>cCa	p.Q1226P		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1226						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)		TTCAAGATCTTGCTTCTGTTT	0.338																																																	0													116	108	110					15																	52513403		1825	4074	5899	SO:0001583	missense	0			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.3677A>C	15.37:g.52513403T>G	ENSP00000261839:p.Gln1226Pro		Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1226P	ENST00000261839.7	37	c.3677	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117801	0.37339	.	.	ENSG00000128833	ENST00000261839	T	0.17691	2.26	5.19	4.07	0.47477	.	0.263110	0.38492	N	0.001672	T	0.07638	0.0192	N	0.14661	0.345	0.80722	D	1	B	0.31730	0.337	B	0.22601	0.04	T	0.31447	-0.9943	10	0.34782	T	0.22	.	4.7222	0.12924	0.2091:0.0881:0.0:0.7029	.	1226	Q9NQX4	MYO5C_HUMAN	P	1226	ENSP00000261839:Q1226P	ENSP00000261839:Q1226P	Q	-	2	0	MYO5C	50300695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.767000	0.47637	1.001000	0.39076	0.528000	0.53228	CAA	MYO5C	-	NULL	ENSG00000128833		0.338	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	-	0	59	0	T	NM_018728		52513403	-1	tier1	-	no_errors	ENST00000261839	ensembl	human	known	74_37	missense	25.97	57	20	SNP	1.000	G	G	52513403	T	G	52513403	3	3	154	1	0	0	0	0	1	0	0	0	10118	1812	63	4	1599	4	MYO5C	15	52513403	Missense_Mutation	SNP	T	TCGA-S8-A6BW-01A-11D-A31U-09	8408171	52513403	50017989	145	39335											
UNC13C	440279	genome.wustl.edu	37	chr15	54308000	54308000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcacaaagccaaagaGaattcgtccttctttcaaag	15	9	8	9	1	3	2	2	0	1	2	5	4	4	2	2	1	1	0	2	1	4	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr15:54308000G>T	ENST00000260323.11	+	1	2900	c.2900G>T	c.(2899-2901)aGa>aTa	p.R967I	UNC13C_ENST00000545554.1_Missense_Mutation_p.R967I|UNC13C_ENST00000537900.1_Missense_Mutation_p.R967I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	967					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)		AAGCCAAAGAGAATTCGTCCT	0.398																																																	0													62	60	60					15																	54308000		1852	4094	5946	SO:0001583	missense	0			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.2900G>T	15.37:g.54308000G>T	ENSP00000260323:p.Arg967Ile		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R967I	ENST00000260323.11	37	c.2900	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811701	0.32053	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.81996	-1.56;-1.51;-1.56	5.58	3.71	0.42584	.	.	.	.	.	T	0.74458	0.3719	L	0.29908	0.895	0.51233	D	0.999919	B	0.31009	0.303	B	0.31495	0.131	T	0.72194	-0.4364	9	0.72032	D	0.01	.	11.8491	0.52401	0.1431:0.0:0.8569:0.0	.	967	Q8NB66	UN13C_HUMAN	I	967	ENSP00000260323:R967I;ENSP00000438156:R967I;ENSP00000442569:R967I	ENSP00000260323:R967I	R	+	2	0	UNC13C	52095292	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	2.749000	0.47492	0.727000	0.32360	0.650000	0.86243	AGA	UNC13C	-	NULL	ENSG00000137766		0.398	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3		0	32	0	G	NM_173166		54308000	1			no_errors	ENST00000260323	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.998	T	T	54308000	G	T	54308000	3	4	154	1	0	0	0	0	1	0	0	0	17035	942	33	3	2902	3	UNC13C	15	54308000	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	1794597	54308000	48223392	146	39336											
SEMA4B	10519	genome.wustl.edu	37	chr15	90771613	90771613	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaagtcttcctgaagcaggGggaatgtgccagcgtgcacc	10	7	14	10	1	1	1	0	1	1	0	2	3	2	2	3	2	4	2	3	2	3	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr15:90771613G>A	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000411539.2_Missense_Mutation_p.G751E|SEMA4B_ENST00000332496.6_Missense_Mutation_p.G751E	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CTGAAGCAGGGGGAATGTGCC	0.617																																																	0													60	63	62					15																	90771613		2069	4219	6288	SO:0001628	intergenic_variant	0			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771613G>A			B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.G751E	ENST00000328649.6	37	c.2252	CCDS10360.1	15	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121509	0.77436	.	.	ENSG00000185033	ENST00000332496;ENST00000411539	T;T	0.81330	-1.48;-1.48	5.28	5.28	0.74379	.	0.508546	0.21370	N	0.075643	D	0.87962	0.6310	M	0.73598	2.24	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66497	0.944;0.944	D	0.88003	0.2757	10	0.54805	T	0.06	.	13.2413	0.59997	0.0:0.0:0.8412:0.1588	.	751;746	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	E	751	ENSP00000332204:G751E;ENSP00000394720:G751E	ENSP00000332204:G751E	G	+	2	0	SEMA4B	88572617	1.000000	0.71417	0.990000	0.47175	0.791000	0.44710	5.858000	0.69532	2.624000	0.88883	0.561000	0.74099	GGG	SEMA4B	-	NULL	ENSG00000185033		0.617	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000313419.1	-	0	24	0	G			90771613	1	tier1	-	no_errors	ENST00000332496	ensembl	human	known	74_37	missense	39.47	23	15	SNP	0.997	A	A	90771613	G	A	90771613	1	1	154	0	1	0	0	0	0	0	0	0	14077	1232	43	3		3	SEMA4B	15	90771613	IGR	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	36463613	90771613	11759779	147	39337											
PRC1	9055	genome.wustl.edu	37	chr15	91525181	91525181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgggtgcgcaaatctttttCtagttgcaagatggtcgtct	7	16	11	7	2	3	1	0	0	3	1	4	1	3	1	0	2	2	3	0	2	3	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr15:91525181C>G	ENST00000361188.5	-	4	1509	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	PRC1_ENST00000394249.3_Missense_Mutation_p.E100Q|PRC1_ENST00000442656.2_Missense_Mutation_p.E59Q|PRC1_ENST00000556129.1_5'Flank|PRC1_ENST00000361919.3_Missense_Mutation_p.E100Q|PRC1-AS1_ENST00000554388.1_RNA					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AAATCTTTTTCTAGTTGCAAG	0.413																																																	0													173	179	177					15																	91525181		2198	4298	6496	SO:0001583	missense	0			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.298G>C	15.37:g.91525181C>G	ENSP00000354679:p.Glu100Gln			Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.E100Q	ENST00000361188.5	37	c.298	CCDS45352.1	15	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107226	0.77096	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.41	5.41	0.78517	.	0.099212	0.64402	D	0.000003	T	0.59689	0.2212	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.96;0.991;0.991;0.991;0.994	T	0.56323	-0.7998	10	0.25106	T	0.35	.	18.129	0.89595	0.0:1.0:0.0:0.0	.	48;59;100;100;100	B4E238;O43663-3;F8W9B5;O43663-2;O43663	.;.;.;.;PRC1_HUMAN	Q	100;100;100;59	ENSP00000377793:E100Q;ENSP00000354618:E100Q;ENSP00000354679:E100Q;ENSP00000409549:E59Q	ENSP00000354679:E100Q	E	-	1	0	PRC1	89326185	1.000000	0.71417	0.999000	0.59377	0.236000	0.25371	5.206000	0.65192	2.826000	0.97356	0.655000	0.94253	GAA	PRC1	-	pfam_MAP65_Ase1_PRC1	ENSG00000198901		0.413	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRC1	HGNC	protein_coding	OTTHUMT00000414760.1	-	0	40	0	C	NM_003981		91525181	-1	tier1	-	no_errors	ENST00000394249	ensembl	human	known	74_37	missense	18.33	49	11	SNP	1.000	G	G	91525181	C	G	91525181	3	3	154	1	0	0	0	0	1	0	0	0	12488	922	32	5	1612	5	PRC1	15	91525181	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	753568	91525181	11006211	148	39338											
MPG	4350	genome.wustl.edu	37	chr16	135510	135510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgccagccgtgtcctcaagGaccgcgagctctgcagtggc	6	6	13	16	4	2	0	1	0	1	0	3	2	3	1	5	2	3	2	5	2	1	0			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:135510G>A	ENST00000219431.4	+	5	862	c.631G>A	c.(631-633)Gac>Aac	p.D211N	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Missense_Mutation_p.D194N	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	211					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)	p.D211Y(1)		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)				TGTCCTCAAGGACCGCGAGCT	0.627								Base excision repair (BER), DNA glycosylases																																									1	Substitution - Missense(1)	ovary(1)											46	49	48					16																	135510		2203	4300	6503	SO:0001583	missense	0				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.631G>A	16.37:g.135510G>A	ENSP00000219431:p.Asp211Asn		G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	p.D211N	ENST00000219431.4	37	c.631	CCDS32346.1	16	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593898	0.46214	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.2	4.24	0.50183	Formyl transferase, C-terminal-like (1);	0.052654	0.85682	D	0.000000	T	0.22085	0.0532	M	0.67700	2.07	0.80722	D	1	B;B	0.27559	0.181;0.181	B;B	0.30716	0.119;0.093	T	0.02546	-1.1143	10	0.44086	T	0.13	-1.2206	13.0129	0.58741	0.0784:0.0:0.9216:0.0	.	206;211	Q5J9I4;P29372	.;3MG_HUMAN	N	194;194;206;211	ENSP00000388097:D194N;ENSP00000380918:D194N;ENSP00000348809:D206N;ENSP00000219431:D211N	ENSP00000219431:D211N	D	+	1	0	MPG	75510	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	7.904000	0.87408	1.184000	0.42957	0.462000	0.41574	GAC	MPG	-	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	ENSG00000103152		0.627	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPG	HGNC	protein_coding	OTTHUMT00000109121.4	-	0	56	0	G			135510	1	tier1	-	no_errors	ENST00000219431	ensembl	human	known	74_37	missense	19.12	55	13	SNP	1.000	A	A	135510	G	A	135510	3	1	154	1	0	0	0	0	1	0	0	0	9762	1174	41	3	673	3	MPG	16	135510	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09		135510	90219243	149	39339											
LUC7L	55692	genome.wustl.edu	37	chr16	240027	240027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggctgtggctccgggaaCggctgcggtggcgccgatgt	3	7	18	13	6	0	0	0	0	0	0	1	2	1	1	3	6	2	3	3	6	1	0	rs148192154		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:240027C>T	ENST00000293872.8	-	9	1024	c.914G>A	c.(913-915)cGt>cAt	p.R305H	LUC7L_ENST00000397783.1_Missense_Mutation_p.R305H|LUC7L_ENST00000337351.4_Missense_Mutation_p.R305H|LUC7L_ENST00000397780.1_Missense_Mutation_p.R252H	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	305	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GCTCCGGGAACGGCTGCGGTG	0.632																																																	0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	234	231	232		914,914	5.2	1	16	dbSNP_134	232	0,8600		0,0,4300	yes	missense,missense	LUC7L	NM_018032.3,NM_201412.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	305/326,305/372	240027	1,13005	2203	4300	6503	SO:0001583	missense	0			AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"LUC7 (S. cerevisiae)-like"				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.914G>A	16.37:g.240027C>T	ENSP00000293872:p.Arg305His		B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	pfam_Luc7-rel	p.R305H	ENST00000293872.8	37	c.914	CCDS32348.1	16	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308337	0.60305	2.27E-4	0.0	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000429378;ENST00000397780	T;T;T;T	0.67865	0.68;0.68;-0.29;2.02	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	M	0.80616	2.505	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.84474	0.0601	10	0.56958	D	0.05	.	17.6237	0.88089	0.0:1.0:0.0:0.0	.	305	Q9NQ29	LUC7L_HUMAN	H	305;305;305;104;252	ENSP00000337507:R305H;ENSP00000380885:R305H;ENSP00000413033:R104H;ENSP00000380882:R252H	ENSP00000293872:R305H	R	-	2	0	LUC7L	180028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.683000	0.74533	2.404000	0.81709	0.655000	0.94253	CGT	LUC7L	-	NULL	ENSG00000007392		0.632	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L	HGNC	protein_coding	OTTHUMT00000134239.1		0	62	0	C			240027	-1			no_errors	ENST00000293872	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	240027	C	T	240027	3	4	154	1	0	0	0	0	1	0	0	0	9117	536	19	1	213	1	LUC7L	16	240027	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	104517	240027	90114726	150	39340											
PIGQ	9091	genome.wustl.edu	37	chr16	633575	633575	+	Missense_Mutation	SNP	T	T	C	0	1	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	tccccagcgggcccgggcccTcactccctgaaccacacggg	6	4	11	20	3	1	1	1	1	0	0	3	1	3	1	6	3	2	0	6	3	1	0			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:633575T>C	ENST00000026218.5	+	10	2312	c.2224T>C	c.(2224-2226)Tca>Cca	p.S742P	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	742					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|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)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCCGGGCCCTCACTCCCTGA	0.632																																																	0													37	40	39					16																	633575		2199	4300	6499	SO:0001583	missense	0			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.2224T>C	16.37:g.633575T>C	ENSP00000026218:p.Ser742Pro		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.S742P	ENST00000026218.5	37	c.2224	CCDS10411.1	16	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554382	0.27739	.	.	ENSG00000007541	ENST00000026218	T	0.22539	1.95	3.43	-4.18	0.03846	.	.	.	.	.	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.14023	0.01;0.0	T	0.37478	-0.9704	8	.	.	.	.	4.7025	0.12834	0.1576:0.4202:0.0:0.4222	.	312;742	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	P	742	ENSP00000026218:S742P	.	S	+	1	0	PIGQ	573576	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.597000	0.05713	-1.115000	0.02973	0.379000	0.24179	TCA	PIGQ	-	NULL	ENSG00000007541		0.632	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	-	0	34	0	T	NM_004204		633575	1	tier1	-	no_errors	ENST00000026218	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	C	C	633575	T	C	633575	3	2	154	1	0	0	0	0	1	0	0	0	11935	1551	54	4	2324	4	PIGQ	16	633575	Missense_Mutation	SNP	T	TCGA-S8-A6BW-01A-11D-A31U-09	393548	633575	89721178	151	39341											
ADCY9	115	genome.wustl.edu	37	chr16	4027490	4027490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggccgcgtacctgtctgGgcacagggagacgtagagca	8	6	16	11	3	1	2	0	0	1	2	1	3	1	2	2	3	2	5	2	3	2	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:4027490G>T	ENST00000294016.3	-	9	3359	c.2821C>A	c.(2821-2823)Cca>Aca	p.P941T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	941					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						TACCTGTCTGGGCACAGGGAG	0.652																																																	0													27	21	23					16																	4027490		2158	4271	6429	SO:0001583	missense	0			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.2821C>A	16.37:g.4027490G>T	ENSP00000294016:p.Pro941Thr		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P941T	ENST00000294016.3	37	c.2821	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027531	0.75390	.	.	ENSG00000162104	ENST00000294016	D	0.83335	-1.71	5.5	5.5	0.81552	.	0.224315	0.43747	D	0.000537	T	0.80248	0.4588	L	0.51422	1.61	0.58432	D	0.999999	B	0.20671	0.047	B	0.15870	0.014	T	0.74293	-0.3712	10	0.27082	T	0.32	.	19.3959	0.94607	0.0:0.0:1.0:0.0	.	941	O60503	ADCY9_HUMAN	T	941	ENSP00000294016:P941T	ENSP00000294016:P941T	P	-	1	0	ADCY9	3967491	1.000000	0.71417	0.965000	0.40720	0.964000	0.63967	4.932000	0.63476	2.601000	0.87937	0.563000	0.77884	CCA	ADCY9	-	NULL	ENSG00000162104		0.652	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	-	0	42	0	G			4027490	-1	tier1	-	no_errors	ENST00000294016	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.999	T	T	4027490	G	T	4027490	3	4	154	1	0	0	0	0	1	0	0	0	301	1232	43	3	1252	3	ADCY9	16	4027490	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	3393915	4027490	86327263	152	39342											
ATF7IP2	80063	genome.wustl.edu	37	chr16	10567798	10567798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtacagaagaaacttGattctataattgatttgaca	15	13	8	5	0	1	5	0	3	1	2	1	5	1	5	0	1	2	2	0	1	5	7	rs368884368		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:10567798G>T	ENST00000396560.2	+	10	1728	c.1501G>T	c.(1501-1503)Gat>Tat	p.D501Y	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.D501Y|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.D45Y|ATF7IP2_ENST00000324570.5_Intron|ATF7IP2_ENST00000396559.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GAAGAAACTTGATTCTATAAT	0.279																																																	0													32	34	33					16																	10567798		2195	4300	6495	SO:0001583	missense	0			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1501G>T	16.37:g.10567798G>T	ENSP00000379808:p.Asp501Tyr		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.D501Y	ENST00000396560.2	37	c.1501	CCDS10540.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.37|11.37	1.617911|1.617911	0.28801|0.28801	.|.	.|.	ENSG00000166669|ENSG00000166669	ENST00000543967;ENST00000396560;ENST00000356427|ENST00000535850	T;T;T|.	0.49139|.	0.79;0.79;0.79|.	4.32|4.32	3.37|3.37	0.38596|0.38596	.|.	0.563926|.	0.17381|.	N|.	0.176303|.	T|T	0.49423|0.49423	0.1556|0.1556	L|L	0.52573|0.52573	1.65|1.65	0.31968|0.31968	N|N	0.607597|0.607597	D|.	0.69078|.	0.997|.	D|.	0.65233|.	0.933|.	T|T	0.60193|0.60193	-0.7311|-0.7311	10|6	0.72032|0.87932	D|D	0.01|0	-14.0837|-14.0837	8.3332|8.3332	0.32200|0.32200	0.1054:0.0:0.8946:0.0|0.1054:0.0:0.8946:0.0	.|.	501|.	Q5U623|.	MCAF2_HUMAN|.	Y|F	45;501;501|423	ENSP00000446119:D45Y;ENSP00000379808:D501Y;ENSP00000348799:D501Y|.	ENSP00000348799:D501Y|ENSP00000440791:L423F	D|L	+|+	1|3	0|2	ATF7IP2|ATF7IP2	10475299|10475299	0.999000|0.999000	0.42202|0.42202	0.269000|0.269000	0.24586|0.24586	0.417000|0.417000	0.31264|0.31264	3.562000|3.562000	0.53777|0.53777	1.429000|1.429000	0.47314|0.47314	0.579000|0.579000	0.79373|0.79373	GAT|TTG	ATF7IP2	-	NULL	ENSG00000166669		0.279	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	HGNC	protein_coding	OTTHUMT00000251961.1	-	0	64	0	G	NM_024997		10567798	1	tier1	-	no_errors	ENST00000356427	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.413	T	T	10567798	G	T	10567798	3	4	154	1	0	0	0	0	1	0	0	0	1089	1290	45	3	1531	3	ATF7IP2	16	10567798	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	6540308	10567798	79786955	153	39343											
KIAA0430	9665	genome.wustl.edu	37	chr16	15719495	15719495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccattcgcttctgagcgcGctctgcactatcttggttta	5	16	8	12	3	3	1	0	1	3	0	5	1	4	1	1	1	2	4	1	1	2	7			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:15719495G>T	ENST00000396368.3	-	8	1893	c.1687C>A	c.(1687-1689)Cgc>Agc	p.R563S	KIAA0430_ENST00000548025.1_Missense_Mutation_p.R560S|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R560S|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R385S|KIAA0430_ENST00000551742.1_Missense_Mutation_p.R562S|KIAA0430_ENST00000540441.2_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	563					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						TTCTGAGCGCGCTCTGCACTA	0.438																																																	0													122	117	119					16																	15719495		1928	4158	6086	SO:0001583	missense	0			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.1687C>A	16.37:g.15719495G>T	ENSP00000379654:p.Arg563Ser		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.R563S	ENST00000396368.3	37	c.1687	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	31	5.089673	0.94149	.	.	ENSG00000166783	ENST00000396368;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	M	0.71581	2.175	0.36275	D	0.855446	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77004	0.971;0.989;0.989	T	0.73202	-0.4057	10	0.87932	D	0	.	19.6506	0.95805	0.0:0.0:1.0:0.0	.	561;560;559	Q9Y4F3-5;F8VV09;Q9Y4F3-4	.;.;.	S	563;562;385;560;562;563	ENSP00000379654:R563S;ENSP00000341939:R385S;ENSP00000449376:R560S;ENSP00000450309:R562S	ENSP00000315718:R562S	R	-	1	0	KIAA0430	15626996	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	8.950000	0.93019	2.640000	0.89533	0.591000	0.81541	CGC	KIAA0430	-	pfam_Limkain_b1_cons_dom,smart_RRM_dom	ENSG00000166783		0.438	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2		0	57	0	G	NM_014647		15719495	-1			no_errors	ENST00000396368	ensembl	human	known	74_37	missense	5.26	71	4	SNP	1.000	T	T	15719495	G	T	15719495	3	4	154	1	0	0	0	0	1	0	0	0	8204	1087	38	2	3624	2	KIAA0430	16	15719495	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	5151697	15719495	74635258	154	39344											
DNAH3	55567	genome.wustl.edu	37	chr16	21139069	21139069	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcacatcccaaaattcctGaggctgcagaggcaattttc	12	10	8	11	0	1	2	1	1	0	1	4	3	3	2	2	2	1	3	2	2	3	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:21139069G>A	ENST00000261383.3	-	8	1146	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.Q383*|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	383	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAAAATTCCTGAGGCTGCAGA	0.483																																																	0													138	132	134					16																	21139069		2201	4300	6501	SO:0001587	stop_gained	0			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.1147C>T	16.37:g.21139069G>A	ENSP00000261383:p.Gln383*		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.Q383*	ENST00000261383.3	37	c.1147	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215448	0.79352	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	.	.	.	5.57	-1.7	0.08159	.	1.399080	0.04537	N	0.387389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	3.3886	0.07281	0.0817:0.3528:0.2477:0.3178	.	.	.	.	X	383;383;354	.	ENSP00000261383:Q383X	Q	-	1	0	DNAH3	21046570	0.003000	0.15002	0.740000	0.30986	0.834000	0.47266	-0.132000	0.10467	0.243000	0.21327	0.563000	0.77884	CAG	DNAH3	-	NULL	ENSG00000158486		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	56	0	G	NM_017539		21139069	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	nonsense	18.37	39	9	SNP	0.030	A	A	21139069	G	A	21139069	4	1	154	1	0	0	0	0	0	1	0	0	4617	1299	45	3	11422	3	DNAH3	16	21139069	Nonsense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	5419574	21139069	69215684	155	39345											
MVP	9961	genome.wustl.edu	37	chr16	29859260	29859260	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatatccccccagtctgctCaggcccctcaagctcctgga	7	8	9	17	0	3	0	2	0	1	0	5	2	5	2	6	3	2	2	6	3	2	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:29859260C>T	ENST00000357402.5	+	15	2770	c.2632C>T	c.(2632-2634)Cag>Tag	p.Q878*	MVP_ENST00000395353.1_Nonsense_Mutation_p.Q878*	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	878					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CCAGTCTGCTCAGGCCCCTCA	0.592																																																	0													43	47	46					16																	29859260		2197	4300	6497	SO:0001587	stop_gained	0			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.2632C>T	16.37:g.29859260C>T	ENSP00000349977:p.Gln878*		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Nonsense_Mutation	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.Q878*	ENST00000357402.5	37	c.2632	CCDS10656.1	16	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309152	0.60414	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	.	.	.	5.19	-10.4	0.00318	.	1.686830	0.03488	N	0.216174	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4507	8.698	0.34307	0.0:0.2073:0.4378:0.3549	.	.	.	.	X	878	.	ENSP00000349977:Q878X	Q	+	1	0	MVP	29766761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.854000	0.01664	-2.354000	0.00614	-1.097000	0.02148	CAG	MVP	-	NULL	ENSG00000013364		0.592	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	-	0	48	0	C	NM_005115		29859260	1	tier1	-	no_errors	ENST00000357402	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	0.000	T	T	29859260	C	T	29859260	4	4	154	1	0	0	0	0	0	1	0	0	10034	827	29	3	2686	3	MVP	16	29859260	Nonsense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	8720191	29859260	60495493	156	39346											
TOX3	27324	genome.wustl.edu	37	chr16	52484196	52484196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttctaacttactctgttgGcttcatcagcatcctcttca	8	16	5	12	0	6	0	3	0	3	0	7	0	7	0	1	1	3	4	1	1	2	6	rs73583125	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:52484196G>T	ENST00000219746.9	-	4	955	c.671C>A	c.(670-672)gCc>gAc	p.A224D	TOX3_ENST00000407228.3_Missense_Mutation_p.A219D	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	224					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TACTCTGTTGGCTTCATCAGC	0.473																																																	0													88	87	87					16																	52484196		1999	4195	6194	SO:0001583	missense	0			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.671C>A	16.37:g.52484196G>T	ENSP00000219746:p.Ala224Asp		B4DRD0|B5MCW4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A224D	ENST00000219746.9	37	c.671	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745860	0.49151	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.10573	2.87;2.86	5.75	5.75	0.90469	.	0.594944	0.17754	N	0.163121	T	0.09247	0.0228	N	0.22421	0.69	0.37755	D	0.926108	B;B	0.24258	0.03;0.1	B;B	0.18561	0.022;0.022	T	0.33599	-0.9862	10	0.17832	T	0.49	.	18.1038	0.89513	0.0:0.0:1.0:0.0	.	219;224	B4DRD0;O15405	.;TOX3_HUMAN	D	224;219	ENSP00000219746:A224D;ENSP00000385705:A219D	ENSP00000219746:A224D	A	-	2	0	TOX3	51041697	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	5.828000	0.69307	2.704000	0.92352	0.591000	0.81541	GCC	TOX3	-	NULL	ENSG00000103460		0.473	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1	-	0	17	0	G	XM_049037		52484196	-1	tier1	-	no_errors	ENST00000219746	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.996	T	T	52484196	G	T	52484196	3	4	154	1	0	0	0	0	1	0	0	0	16427	1203	42	3	1075	3	TOX3	16	52484196	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	22624936	52484196	37870557	157	39347											
KLHDC4	54758	genome.wustl.edu	37	chr16	87790005	87790005	+	Splice_Site	DEL	T	T	-																															gaaaaaaatatatactttacTttttggccgttgaaatattc																										TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:87790005delT	ENST00000270583.5	-	3	328	c.270delA	c.(268-270)aaa>aa	p.K90fs	KLHDC4_ENST00000347925.5_Splice_Site_p.K90fs|KLHDC4_ENST00000353170.5_Intron	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	90										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TATACTTTACTTTTTGGCCGT	0.393																																																	0													48	50	49					16																	87790005		2198	4300	6498	SO:0001630	splice_region_variant	0			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.270+1A>-	16.37:g.87790005delT			D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Frame_Shift_Del	DEL	pfam_Kelch_2,pfam_Kelch_1	p.T91fs	ENST00000270583.5	37	c.270	CCDS10963.1	16																																																																																			KLHDC4	-	NULL	ENSG00000104731		0.393	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLHDC4	HGNC	protein_coding	OTTHUMT00000269109.2		0	18	0	T	NM_017566	Frame_Shift_Del	87790005	-1	tier1		no_errors	ENST00000270583	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	1.000	-	-	87790005	T	-	87790005	8	5	154	1	0	1	0	1	0	0	1	0	8385	1623	56	0	1328	0	KLHDC4	16	87790005	Splice_Site	DEL	T	TCGA-S8-A6BW-01A-11D-A31U-09	35305809	87790005	2564748	158	39348											
GLOD4	51031	genome.wustl.edu	37	chr17	679087	679087	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtttcaaaaacaccttCtgcaacttccgtcagtggcc	9	11	7	14	2	3	0	2	0	1	0	5	0	4	0	3	2	3	2	3	2	3	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:679087C>A	ENST00000301328.5	-	5	402	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	GLOD4_ENST00000536578.1_Nonsense_Mutation_p.E103*|GLOD4_ENST00000301329.6_Nonsense_Mutation_p.E112*			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	127						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AAAACACCTTCTGCAACTTCC	0.493																																																	0													97	96	96					17																	679087		2203	4300	6503	SO:0001587	stop_gained	0			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		ENST00000301328.5:c.379G>T	17.37:g.679087C>A	ENSP00000301328:p.Glu127*		D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Nonsense_Mutation	SNP	NULL	p.E127*	ENST00000301328.5	37	c.379		17	.	.	.	.	.	.	.	.	.	.	C	37	6.050240	0.97236	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	.	.	.	5.92	5.92	0.95590	.	0.423690	0.27986	N	0.017057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-14.7284	15.6857	0.77409	0.1372:0.8628:0.0:0.0	.	.	.	.	X	112;315;127;103	.	ENSP00000301328:E127X	E	-	1	0	GLOD4	625837	0.955000	0.32602	0.951000	0.38953	0.861000	0.49209	1.996000	0.40776	2.801000	0.96364	0.650000	0.86243	GAA	GLOD4	-	NULL	ENSG00000167699		0.493	GLOD4-005	KNOWN	basic	protein_coding	GLOD4	HGNC	protein_coding	OTTHUMT00000437190.1		0	48	0	C	NM_016080		679087	-1			no_errors	ENST00000301328	ensembl	human	known	74_37	nonsense	5.26	54	3	SNP	0.997	A	A	679087	C	A	679087	4	1	154	1	0	0	0	0	0	1	0	0	6476	922	32	3	586	3	GLOD4	17	679087	Nonsense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09		679087	80516123	159	39349											
TP53	7157	genome.wustl.edu	37	chr17	7578553	7578553	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgttgagggcaggggagTactgtaggaagaggaaggag	11	8	19	3	0	1	2	0	1	1	1	1	6	1	6	0	6	1	4	0	6	4	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:7578553T>G	ENST00000269305.4	-	5	566	c.377A>C	c.(376-378)tAc>tCc	p.Y126S	TP53_ENST00000445888.2_Splice_Site_p.Y126S|TP53_ENST00000455263.2_Splice_Site_p.Y126S|TP53_ENST00000359597.4_Splice_Site_p.Y126S|TP53_ENST00000413465.2_Splice_Site_p.Y126S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.Y126S	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	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAGGGGAGTACTGTAGGAA	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"	30	Deletion - In frame(9)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - Frameshift(6)|Unknown(1)	upper_aerodigestive_tract(6)|large_intestine(4)|central_nervous_system(4)|bone(4)|lung(3)|ovary(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|liver(1)											43	43	43					17																	7578553		2203	4300	6503	SO:0001630	splice_region_variant	0	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.376-1A>C	17.37:g.7578553T>G			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y126S	ENST00000269305.4	37	c.377	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568680	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.971;0.999;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-28.2517	13.8301	0.63375	0.0:0.0:0.0:1.0	.	87;126;126;33;126;126;126	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	126;126;126;126;126;126;115;33;33;126;126	ENSP00000410739:Y126S;ENSP00000352610:Y126S;ENSP00000269305:Y126S;ENSP00000398846:Y126S;ENSP00000391127:Y126S;ENSP00000391478:Y126S;ENSP00000423862:Y33S;ENSP00000424104:Y126S;ENSP00000426252:Y126S	ENSP00000269305:Y126S	Y	-	2	0	TP53	7519278	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	7.958000	0.87877	2.206000	0.71126	0.533000	0.62120	TAC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	31	0	T	NM_000546	Missense_Mutation	7578553	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	53.85	6	7	SNP	1.000	G	G	7578553	T	G	7578553	5	3	154	1	0	0	0	0	0	0	1	0	16429	1652	57	4	921	4	TP53	17	7578553	Splice_Site	SNP	T	TCGA-S8-A6BW-01A-11D-A31U-09	6899466	7578553	73616657	160	39350											
DNAH9	1770	genome.wustl.edu	37	chr17	11622754	11622754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaaggacctgggccgcGcactgggcatcctggtctat	7	7	12	15	2	1	0	0	0	1	0	2	1	2	1	5	4	0	2	5	4	2	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:11622754G>A	ENST00000262442.4	+	27	5724	c.5656G>A	c.(5656-5658)Gca>Aca	p.A1886T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A1886T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1886	AAA 1. {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)		CCTGGGCCGCGCACTGGGCAT	0.622																																																	0													95	86	89					17																	11622754		2203	4300	6503	SO:0001583	missense	0			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.5656G>A	17.37:g.11622754G>A	ENSP00000262442:p.Ala1886Thr		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A1886T	ENST00000262442.4	37	c.5656	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007829	0.93287	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.14022	2.54;2.54	5.19	5.19	0.71726	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.51276	-0.8726	10	0.87932	D	0	.	18.7098	0.91652	0.0:0.0:1.0:0.0	.	1886	Q9NYC9	DYH9_HUMAN	T	1886;1886;468	ENSP00000262442:A1886T;ENSP00000414874:A1886T	ENSP00000262442:A1886T	A	+	1	0	DNAH9	11563479	1.000000	0.71417	0.463000	0.27130	0.733000	0.41908	7.637000	0.83313	2.433000	0.82419	0.555000	0.69702	GCA	DNAH9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000007174		0.622	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0	45	0	G	NM_001372		11622754	1			no_errors	ENST00000262442	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	11622754	G	A	11622754	3	1	154	1	0	0	0	0	1	0	0	0	4622	1087	38	1	5762	1	DNAH9	17	11622754	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	4044201	11622754	69572456	161	39351											
MYO1D	4642	genome.wustl.edu	37	chr17	30821801	30821801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccgggcacgctgaggatGaagcccgagcgattcttggt	7	9	14	11	4	1	2	0	2	1	0	2	5	2	3	2	3	2	2	2	3	1	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:30821801G>A	ENST00000318217.5	-	22	3301	c.2997C>T	c.(2995-2997)ttC>ttT	p.F999F	MYO1D_ENST00000394649.4_Silent_p.F911F|RP11-466A19.1_ENST00000581360.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	999	Myosin tail. {ECO:0000255}.				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)			CGCTGAGGATGAAGCCCGAGC	0.682																																																	0													58	46	50					17																	30821801		2203	4299	6502	SO:0001819	synonymous_variant	0			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.2997C>T	17.37:g.30821801G>A			A6H8V3|Q8NHP9	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F999	ENST00000318217.5	37	c.2997	CCDS32615.1	17																																																																																			MYO1D	-	pfam_Myosin_tail_2	ENSG00000176658		0.682	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1		0	33	0	G			30821801	-1			no_errors	ENST00000318217	ensembl	human	known	74_37	silent	8.33	55	5	SNP	1.000	A	A	30821801	G	A	30821801	2	1	154	1	0	0	0	0	0	0	0	1	10109	1281	45	3		3	MYO1D	17	30821801	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	19199047	30821801	50373409	162	39352											
AOC2	314	genome.wustl.edu	37	chr17	40997280	40997280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgccacccctcggggcttgCgctcaggggaccgagctacc	6	6	13	16	3	1	0	1	0	0	0	2	2	1	1	5	4	4	3	5	4	1	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:40997280C>T	ENST00000253799.3	+	1	664	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	AOC2_ENST00000452774.2_Missense_Mutation_p.R213C	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	213					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGGGGCTTGCGCTCAGGGGA	0.592																																																	0													63	63	63					17																	40997280		2203	4299	6502	SO:0001583	missense	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.637C>T	17.37:g.40997280C>T	ENSP00000253799:p.Arg213Cys		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.R213C	ENST00000253799.3	37	c.637	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371677	0.24771	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.18174	2.23;2.23	5.51	0.855	0.19013	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.733347	0.13021	N	0.420071	T	0.20981	0.0505	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.65140	0.932;0.888	T	0.09885	-1.0654	10	0.56958	D	0.05	-19.8737	3.1267	0.06409	0.1772:0.5156:0.1034:0.2038	.	213;213	O75106;O75106-2	AOC2_HUMAN;.	C	213	ENSP00000253799:R213C;ENSP00000406134:R213C	ENSP00000253799:R213C	R	+	1	0	AOC2	38250806	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-0.006000	0.12833	0.301000	0.22738	0.655000	0.94253	CGC	AOC2	-	pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	ENSG00000131480		0.592	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1		0	12	0	C	NM_009590, NM_001158		40997280	1			no_errors	ENST00000253799	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.000	T	T	40997280	C	T	40997280	3	4	154	1	0	0	0	0	1	0	0	0	727	768	27	1	639	1	AOC2	17	40997280	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	10175479	40997280	40197930	163	39353											
LRRC37A3	374819	genome.wustl.edu	37	chr17	62893154	62893154	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gggtctgctgggagagtaggCgcatggggagattcccgtgg	6	8	20	7	2	1	2	0	0	1	2	2	4	2	2	1	6	1	3	1	6	1	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:62893154C>T	ENST00000584306.1	-	3	752	c.222G>A	c.(220-222)gcG>gcA	p.A74A	RP11-927P21.2_ENST00000581622.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000319651.5_Silent_p.A74A|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	74						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						GGAGAGTAGGCGCATGGGGAG	0.617																																																	0													4	6	6					17																	62893154		1206	3254	4460	SO:0001819	synonymous_variant	0			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.222G>A	17.37:g.62893154C>T			Q49A01|Q49A80|Q8NB33	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A74	ENST00000584306.1	37	c.222	CCDS32708.1	17																																																																																			LRRC37A3	-	NULL	ENSG00000176809		0.617	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1		0	48	0	C	NM_199340		62893154	-1			no_errors	ENST00000319651	ensembl	human	known	74_37	silent	7.23	77	6	SNP	0.000	T	T	62893154	C	T	62893154	2	4	154	1	0	0	0	0	0	0	0	1	9028	755	27	1		1	LRRC37A3	17	62893154	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	21895874	62893154	18302056	164	39354											
AXIN2	8313	genome.wustl.edu	37	chr17	63533733	63533735	+	In_Frame_Del	DEL	TGG	TGG	-																															gcagggagtggtactgcgaaTggtggtggtggtggtggtcc																										TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:63533733_63533735delTGG	ENST00000375702.5	-	5	1527_1529	c.1419_1421delCCA	c.(1417-1422)caccat>cat	p.473_474HH>H	AXIN2_ENST00000307078.5_In_Frame_Del_p.473_474HH>H			Q9Y2T1	AXIN2_HUMAN	axin 2	473	Interaction with beta-catenin. {ECO:0000250}.|Poly-His.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GTACTGCGAATGGTGGTGGTGGT	0.709									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								0																																										SO:0001651	inframe_deletion	0	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1419_1421delCCA	17.37:g.63533742_63533744delTGG	ENSP00000364854:p.His474del		Q3MJ88|Q9H3M6|Q9UH84	In_Frame_Del	DEL	pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.H474in_frame_del	ENST00000375702.5	37	c.1421_1419		17																																																																																			AXIN2	-	NULL	ENSG00000168646		0.709	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1		0	24	0	TGG	NM_004655		63533735	-1	tier1		no_errors	ENST00000307078	ensembl	human	known	74_37	in_frame_del	7.69	24	2	DEL	0.471:0.843:0.868	-	-	63533735	TGG	-	63533733	7	5	154	1	0	1	0	1	0	0	0	0	1238	1464	51	0	1134	0	AXIN2	17	63533733	In_Frame_Del	DEL	TGG	TCGA-S8-A6BW-01A-11D-A31U-09	640579	63533733	17661477	165	39355											
TYMS	7298	genome.wustl.edu	37	chr18	671442	671442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaatcacatcgagccactGaaaattcaggtaagaattag	16	9	8	8	1	2	3	2	2	0	1	3	4	2	3	1	1	1	1	1	1	6	3	rs549187782		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:671442G>A	ENST00000323274.10	+	6	934	c.795G>A	c.(793-795)ctG>ctA	p.L265L	TYMS_ENST00000323250.5_Silent_p.L182L|ENOSF1_ENST00000583973.1_5'Flank|TYMS_ENST00000323224.7_Silent_p.L231L|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	265					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	TCGAGCCACTGAAAATTCAGG	0.413													G|||	1	0.000199681	8e-04	0	5008	,	,		19231	0		0	False		,,,				2504	0																0													103	103	103					18																	671442		2203	4300	6503	SO:0001819	synonymous_variant	0			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.795G>A	18.37:g.671442G>A			Q8WYK3|Q8WYK4	Silent	SNP	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase	p.L265	ENST00000323274.10	37	c.795	CCDS11821.1	18																																																																																			TYMS	-	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,tigrfam_Thymidylate_synthase	ENSG00000176890		0.413	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYMS	HGNC	protein_coding	OTTHUMT00000254316.1	-	0	71	0	G	NM_001071		671442	1	tier1	-	no_errors	ENST00000323274	ensembl	human	known	74_37	silent	8.43	76	7	SNP	0.938	A	A	671442	G	A	671442	2	1	154	1	0	0	0	0	0	0	0	1	16861	1277	45	3		3	TYMS	18	671442	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09		671442	77405806	166	39356											
OSBPL1A	114876	genome.wustl.edu	37	chr18	21897350	21897350	+	Frame_Shift_Del	DEL	A	A	-																															acccagaataatctccagccAaaaaatcttgaactctaagg																										TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:21897350delA	ENST00000319481.3	-	10	953	c.747delT	c.(745-747)tttfs	p.F249fs		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	249	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATCTCCAGCCAAAAAATCTTG	0.338																																																	0													89	95	93					18																	21897350		2203	4299	6502	SO:0001589	frameshift_variant	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.747delT	18.37:g.21897350delA	ENSP00000320291:p.Phe249fs		B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Del	DEL	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.F249fs	ENST00000319481.3	37	c.747	CCDS11884.1	18																																																																																			OSBPL1A	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000141447		0.338	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1		0	31	0	A	NM_080597		21897350	-1	tier1		no_errors	ENST00000319481	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	1.000	-	-	21897350	A	-	21897350	7	5	154	1	0	1	0	1	0	0	0	0	11316	127	5	0	2181	0	OSBPL1A	18	21897350	Frame_Shift_Del	DEL	A	TCGA-S8-A6BW-01A-11D-A31U-09	21225908	21897350	56179898	167	39357											
DSC3	1825	genome.wustl.edu	37	chr18	28604445	28604445	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gaatatccatctgcagttgaCgcataagcaatcaactgcaa	15	9	7	10	1	2	1	1	1	1	0	3	2	3	1	1	0	4	5	1	0	6	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:28604445C>T	ENST00000360428.4	-	6	725	c.645G>A	c.(643-645)gcG>gcA	p.A215A	DSC3_ENST00000434452.1_Silent_p.A215A	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	215	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)			CTGCAGTTGACGCATAAGCAA	0.413																																																	0													60	63	62					18																	28604445		2203	4300	6503	SO:0001819	synonymous_variant	0			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.645G>A	18.37:g.28604445C>T			A6NN35|Q14200|Q9HAZ9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.A215	ENST00000360428.4	37	c.645	CCDS32810.1	18																																																																																			DSC3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000134762		0.413	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	HGNC	protein_coding	OTTHUMT00000447384.1		0	22	0	C	NM_001941, NM_024423		28604445	-1			no_errors	ENST00000360428	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.001	T	T	28604445	C	T	28604445	2	4	154	1	0	0	0	0	0	0	0	1	4781	523	19	1		1	DSC3	18	28604445	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	6707095	28604445	49472803	168	39358											
ASXL3	80816	genome.wustl.edu	37	chr18	31319196	31319196	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaatgcctgcatctctGaaacgtccttttcttctgag	10	13	7	11	1	3	3	0	2	3	1	5	3	4	3	2	0	3	1	2	0	3	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:31319196G>T	ENST00000269197.5	+	11	1828	c.1828G>T	c.(1828-1830)Gaa>Taa	p.E610*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	610	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTGCATCTCTGAAACGTCCTT	0.478																																																	0													55	55	55					18																	31319196		1869	4107	5976	SO:0001587	stop_gained	0			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.1828G>T	18.37:g.31319196G>T	ENSP00000269197:p.Glu610*		Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E610*	ENST00000269197.5	37	c.1828	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	G	36	5.929412	0.97116	.	.	ENSG00000141431	ENST00000269197	.	.	.	5.46	5.46	0.80206	.	0.639767	0.15687	N	0.249619	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.6763	0.95934	0.0:0.0:1.0:0.0	.	.	.	.	X	610	.	ENSP00000269197:E610X	E	+	1	0	ASXL3	29573194	1.000000	0.71417	0.991000	0.47740	0.863000	0.49368	6.722000	0.74735	2.725000	0.93324	0.460000	0.39030	GAA	ASXL3	-	NULL	ENSG00000141431		0.478	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	14	0	G			31319196	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	nonsense	40.91	13	9	SNP	1.000	T	T	31319196	G	T	31319196	4	4	154	1	0	0	0	0	0	1	0	0	1069	1291	45	3	1870	3	ASXL3	18	31319196	Nonsense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	2714751	31319196	46758052	169	39359											
ACAA2	10449	genome.wustl.edu	37	chr18	47311700	47311700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcaacagccaagtactGgggagcaaaagcttcattca	13	8	8	12	0	3	0	3	0	1	0	4	1	3	1	2	2	5	3	2	2	5	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:47311700G>T	ENST00000285093.10	-	9	1451	c.976C>A	c.(976-978)Cag>Aag	p.Q326K	ACAA2_ENST00000589432.1_Missense_Mutation_p.Q271K|ACAA2_ENST00000587994.1_Missense_Mutation_p.Q323K	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	326					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						GCCAAGTACTGGGGAGCAAAA	0.403																																																	0													53	48	50					18																	47311700		2203	4300	6503	SO:0001583	missense	0			D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"mitochondrial 3-oxoacyl-Coenzyme A thiolase"	604770	"acetyl-Coenzyme A acyltransferase 2"			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.976C>A	18.37:g.47311700G>T	ENSP00000285093:p.Gln326Lys		Q9BUT6	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.Q326K	ENST00000285093.10	37	c.976	CCDS11939.1	18	.	.	.	.	.	.	.	.	.	.	G	31	5.072789	0.93950	.	.	ENSG00000167315	ENST00000285093	D	0.93659	-3.26	5.58	5.58	0.84498	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98090	0.9370	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99091	1.0840	10	0.87932	D	0	-16.149	19.5743	0.95436	0.0:0.0:1.0:0.0	.	326;326	B2RB23;P42765	.;THIM_HUMAN	K	326	ENSP00000285093:Q326K	ENSP00000285093:Q326K	Q	-	1	0	ACAA2	45565698	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.349000	0.97066	2.611000	0.88343	0.655000	0.94253	CAG	ACAA2	-	pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000167315		0.403	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACAA2	HGNC	protein_coding	OTTHUMT00000255921.2	-	0	17	0	G	NM_006111		47311700	-1	tier1	-	no_errors	ENST00000285093	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	T	T	47311700	G	T	47311700	3	4	154	1	0	0	0	0	1	0	0	0	105	1357	47	3	225	3	ACAA2	18	47311700	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	15992504	47311700	30765548	170	39360											
KIAA1468	57614	genome.wustl.edu	37	chr18	59947599	59947599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactggtttacagctgactCttcgaggcatgagtgaagcg	9	11	13	8	2	1	4	0	4	1	0	2	5	1	4	0	2	3	3	0	2	2	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:59947599C>A	ENST00000398130.2	+	23	3206	c.2974C>A	c.(2974-2976)Ctt>Att	p.L992I	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	992										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACAGCTGACTCTTCGAGGCAT	0.473																																																	0													119	107	111					18																	59947599		2203	4300	6503	SO:0001583	missense	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2974C>A	18.37:g.59947599C>A	ENSP00000381198:p.Leu992Ile			Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.L992I	ENST00000398130.2	37	c.2974	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643583	0.29246	.	.	ENSG00000134444	ENST00000398130	T	0.68903	-0.36	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.109676	0.64402	D	0.000008	T	0.35219	0.0924	N	0.00446	-1.495	0.24591	N	0.993829	B	0.06786	0.001	B	0.10450	0.005	T	0.04840	-1.0923	9	.	.	.	.	20.1169	0.97940	0.0:1.0:0.0:0.0	.	992	Q9P260	K1468_HUMAN	I	992	ENSP00000381198:L992I	.	L	+	1	0	KIAA1468	58098579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.023000	0.70848	2.835000	0.97688	0.591000	0.81541	CTT	KIAA1468	-	superfamily_ARM-type_fold	ENSG00000134444		0.473	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	-	0	55	0	C	NM_020854		59947599	1	tier1	-	no_errors	ENST00000398130	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	59947599	C	A	59947599	3	1	154	1	0	0	0	0	1	0	0	0	8263	913	32	3	3064	3	KIAA1468	18	59947599	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	12635899	59947599	18129649	171	39361											
SERPINB13	5275	genome.wustl.edu	37	chr18	61264278	61264278	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggtgaatctgcacttgcCccggtttgaggtggaggacg	9	9	15	8	2	1	2	0	2	1	0	1	4	1	4	2	5	2	2	2	5	2	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:61264278C>G	ENST00000344731.5	+	8	959	c.857C>G	c.(856-858)cCc>cGc	p.P286R	SERPINB13_ENST00000269489.5_Missense_Mutation_p.P234R	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	286					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGCACTTGCCCCGGTTTGAG	0.478																																																	0													100	97	98					18																	61264278		2203	4300	6503	SO:0001583	missense	0			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.857C>G	18.37:g.61264278C>G	ENSP00000341584:p.Pro286Arg		A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.P286R	ENST00000344731.5	37	c.857	CCDS11985.1	18	.	.	.	.	.	.	.	.	.	.	C	32	5.125404	0.94429	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	T;D	0.97850	-0.01;-4.57	5.3	5.3	0.74995	Serpin domain (3);	0.000000	0.52532	D	0.000078	D	0.99230	0.9732	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98962	1.0798	10	0.87932	D	0	.	17.9629	0.89091	0.0:1.0:0.0:0.0	.	295;204;286	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	R	234;204;286	ENSP00000269489:P234R;ENSP00000341584:P286R	ENSP00000269489:P234R	P	+	2	0	SERPINB13	59415258	1.000000	0.71417	0.569000	0.28460	0.423000	0.31445	7.760000	0.85248	2.494000	0.84150	0.557000	0.71058	CCC	SERPINB13	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000197641		0.478	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB13	HGNC	protein_coding	OTTHUMT00000133798.1	-	0	50	0	C	NM_012397		61264278	1	tier1	-	no_errors	ENST00000344731	ensembl	human	known	74_37	missense	42.31	30	22	SNP	1.000	G	G	61264278	C	G	61264278	3	3	154	1	0	0	0	0	1	0	0	0	14145	623	22	5	883	5	SERPINB13	18	61264278	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	1316679	61264278	16812970	172	39362											
ATCAY	85300	genome.wustl.edu	37	chr19	3902495	3902495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtccgcaggccactcccaGaagagacgggggtggaactg	9	4	17	11	2	0	2	0	0	0	2	2	4	2	3	3	5	1	1	3	5	2	0			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:3902495G>C	ENST00000450849.2	+	3	555	c.88G>C	c.(88-90)Gaa>Caa	p.E30Q	ATCAY_ENST00000398448.3_Missense_Mutation_p.E36Q|ATCAY_ENST00000301260.6_Missense_Mutation_p.E30Q|ATCAY_ENST00000600960.1_Missense_Mutation_p.E30Q	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	30					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)		GCCACTCCCAGAAGAGACGGG	0.612																																																	0													18	22	21					19																	3902495		1962	4128	6090	SO:0001583	missense	0				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.88G>C	19.37:g.3902495G>C	ENSP00000390941:p.Glu30Gln		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E30Q	ENST00000450849.2	37	c.88	CCDS45923.1	19	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187466	0.57909	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448	T;T;T	0.52754	0.65;0.65;0.94	4.34	4.34	0.51931	.	0.147058	0.45867	D	0.000327	T	0.67896	0.2942	M	0.80332	2.49	0.37740	D	0.925602	D;D	0.89917	1.0;0.998	D;P	0.66716	0.946;0.878	T	0.76152	-0.3064	10	0.66056	D	0.02	-1.5166	14.1747	0.65534	0.0:0.0:1.0:0.0	.	36;30	B4DS11;Q86WG3	.;ATCAY_HUMAN	Q	30;30;30;36	ENSP00000390941:E30Q;ENSP00000301260:E30Q;ENSP00000381466:E36Q	ENSP00000301260:E30Q	E	+	1	0	ATCAY	3853495	1.000000	0.71417	0.991000	0.47740	0.198000	0.23893	6.558000	0.73942	2.241000	0.73720	0.462000	0.41574	GAA	ATCAY	-	NULL	ENSG00000167654		0.612	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2		0	29	0	G			3902495	1			no_errors	ENST00000301260	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	C	C	3902495	G	C	3902495	3	2	154	1	0	0	0	0	1	0	0	0	1078	943	33	5	94	5	ATCAY	19	3902495	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09		3902495	55226488	173	39363											
TMEM146	257062	genome.wustl.edu	37	chr19	5724873	5724873	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgatacaggacgttcaaggGgtatgtggctccatgcttaa	10	11	12	8	1	1	1	1	1	0	0	2	2	2	2	1	4	2	4	1	4	4	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:5724873G>C	ENST00000381624.3	+	2	187	c.126G>C	c.(124-126)ggG>ggC	p.G42G	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	42					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)											ACGTTCAAGGGGTATGTGGCT	0.413																																																	0													208	193	198					19																	5724873		1925	4137	6062	SO:0001630	splice_region_variant	0			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.126+1G>C	19.37:g.5724873G>C			Q6ZRP1	Silent	SNP	superfamily_WD40_repeat_dom	p.G42	ENST00000381624.3	37	c.126	CCDS12149.2	19																																																																																			CATSPERD	-	NULL	ENSG00000174898		0.413	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	-	0	46	0	G	NM_152784	Silent	5724873	1	tier1	-	no_errors	ENST00000381624	ensembl	human	known	74_37	silent	11.67	53	7	SNP	0.995	C	C	5724873	G	C	5724873	5	2	154	1	0	0	0	0	0	0	1	0	16107	1246	43	5	132	5	TMEM146	19	5724873	Splice_Site	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	1822378	5724873	53404110	174	39364											
MRPL4	51073	genome.wustl.edu	37	chr19	10370426	10370426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttcagcctgccctacagCgacttcccccgacccctacc	6	7	5	23	2	1	0	1	0	0	0	2	2	2	0	8	0	5	0	8	0	2	4	rs147343809		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:10370426C>T	ENST00000253099.6	+	9	1160	c.873C>T	c.(871-873)agC>agT	p.S291S	MRPL4_ENST00000393733.2_3'UTR|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Silent_p.S291S|CTD-2369P2.4_ENST00000587088.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	291					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TGCCCTACAGCGACTTCCCCC	0.662													C|||	1	0.000199681	0	0	5008	,	,		9807	0		0	False		,,,				2504	0.001																0								C	,,	0,4406		0,0,2203	77	63	68		873,873,	-5.6	0.4	19	dbSNP_134	68	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,utr-3	MRPL4	NM_015956.2,NM_146387.1,NM_146388.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	291/312,291/312,	10370426	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"Mitochondrial ribosomal proteins / large subunits"	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.873C>T	19.37:g.10370426C>T			A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Silent	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	p.S291	ENST00000253099.6	37	c.873	CCDS12230.1	19																																																																																			MRPL4	-	NULL	ENSG00000105364		0.662	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL4	HGNC	protein_coding	OTTHUMT00000451197.1	-	0	43	0	C			10370426	1	tier1	rs147343809	no_errors	ENST00000253099	ensembl	human	known	74_37	silent	34.69	31	17	SNP	0.311	T	T	10370426	C	T	10370426	2	4	154	1	0	0	0	0	0	0	0	1	9841	767	27	1		1	MRPL4	19	10370426	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	4645553	10370426	48758557	175	39365											
CASP14	23581	genome.wustl.edu	37	chr19	15164590	15164590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggccatcgattcccGggaagatcccgtcagttgtg	8	8	12	13	3	1	1	1	0	0	1	4	3	3	2	4	2	1	2	4	2	1	2	rs146833428		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:15164590G>T	ENST00000427043.3	+	4	532	c.224G>T	c.(223-225)cGg>cTg	p.R75L	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.R75L	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	75					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.R75Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ATCGATTCCCGGGAAGATCCC	0.547																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											75	68	70					19																	15164590		2203	4300	6503	SO:0001583	missense	0				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.224G>T	19.37:g.15164590G>T	ENSP00000393417:p.Arg75Leu		O95823|Q3SYC9	Missense_Mutation	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.R75L	ENST00000427043.3	37	c.224	CCDS12323.1	19	.	.	.	.	.	.	.	.	.	.	g	3.061	-0.193267	0.06259	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.21191	2.02;2.02	4.91	3.85	0.44370	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	1.443330	0.04357	N	0.356799	T	0.21103	0.0508	L	0.39633	1.23	0.09310	N	0.999999	B	0.12013	0.005	B	0.17098	0.017	T	0.11518	-1.0584	10	0.30078	T	0.28	.	9.5281	0.39175	0.1022:0.0:0.8978:0.0	.	75	P31944	CASPE_HUMAN	L	75	ENSP00000393417:R75L;ENSP00000221740:R75L	ENSP00000221740:R75L	R	+	2	0	CASP14	15025590	0.017000	0.18338	0.044000	0.18714	0.413000	0.31143	1.024000	0.30077	2.257000	0.74773	0.306000	0.20318	CGG	CASP14	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20	ENSG00000105141		0.547	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1		0	38	0	G	NM_012114		15164590	1			no_errors	ENST00000221740	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.201	T	T	15164590	G	T	15164590	3	4	154	1	0	0	0	0	1	0	0	0	2677	1116	39	2	234	2	CASP14	19	15164590	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	4794164	15164590	43964393	176	39366											
COPE	11316	genome.wustl.edu	37	chr19	19030112	19030112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacgtcgaacagctcgtctaCctccccggagccgccggagg	7	6	12	16	6	1	0	0	0	1	0	4	3	2	2	5	3	5	1	5	3	3	2	rs201231121		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:19030112C>T	ENST00000262812.4	-	1	94	c.46G>A	c.(46-48)Gta>Ata	p.V16I	COPE_ENST00000351079.4_Missense_Mutation_p.V16I|DDX49_ENST00000438170.2_5'Flank|DDX49_ENST00000247003.4_5'Flank|AC002985.3_ENST00000596918.1_Intron|COPE_ENST00000600932.1_Missense_Mutation_p.V16I|COPE_ENST00000349893.4_Missense_Mutation_p.V16I	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	16					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						AGCTCGTCTACCTCCCCGGAG	0.657																																																	0													40	42	42					19																	19030112		2203	4300	6503	SO:0001583	missense	0			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.46G>A	19.37:g.19030112C>T	ENSP00000262812:p.Val16Ile		A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.V16I	ENST00000262812.4	37	c.46	CCDS12387.1	19	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831375	0.71258	.	.	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000349893;ENST00000538245	T;T;T	0.44083	0.93;0.93;0.93	5.66	5.66	0.87406	.	0.061993	0.64402	D	0.000005	T	0.49287	0.1548	L	0.53780	1.695	0.31117	N	0.709296	P;P;B;B	0.41848	0.763;0.727;0.394;0.394	P;P;B;B	0.49085	0.597;0.6;0.329;0.38	T	0.50709	-0.8796	10	0.24483	T	0.36	-31.4827	15.8551	0.78972	0.0:0.8644:0.1356:0.0	.	16;16;16;16	Q53HJ6;A6NE29;A6NKA3;O14579	.;.;.;COPE_HUMAN	I	16;16;16;15	ENSP00000262812:V16I;ENSP00000345674:V16I;ENSP00000343134:V16I	ENSP00000262812:V16I	V	-	1	0	COPE	18891112	0.998000	0.40836	0.920000	0.36463	0.419000	0.31324	4.293000	0.59037	2.679000	0.91253	0.563000	0.77884	GTA	COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu	ENSG00000105669		0.657	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1		0	57	0	C	NM_007263		19030112	-1			no_errors	ENST00000262812	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.981	T	T	19030112	C	T	19030112	3	4	154	1	0	0	0	0	1	0	0	0	3737	507	18	3	920	3	COPE	19	19030112	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	3865522	19030112	40098871	177	39367											
NPHS1	4868	genome.wustl.edu	37	chr19	36339270	36339270	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccaggaatgtcaggttGgacatggagatgtgaccgcc	9	7	15	10	3	1	2	1	1	0	1	1	5	1	4	3	4	0	1	3	4	1	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:36339270G>T	ENST00000378910.5	-	10	1199	c.1200C>A	c.(1198-1200)tcC>tcA	p.S400S	NPHS1_ENST00000353632.6_Silent_p.S400S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	400	Ig-like C2-type 4.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.S400S(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGTCAGGTTGGACATGGAGA	0.587																																																	1	Substitution - coding silent(1)	endometrium(1)											93	81	85					19																	36339270		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1200C>A	19.37:g.36339270G>T			A6NDH2|C3RX61	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S400	ENST00000378910.5	37	c.1200	CCDS32996.1	19																																																																																			NPHS1	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000161270		0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1		0	25	0	G			36339270	-1			no_errors	ENST00000378910	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.972	T	T	36339270	G	T	36339270	2	4	154	1	0	0	0	0	0	0	0	1	10621	1335	47	3		3	NPHS1	19	36339270	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	17309158	36339270	22789713	178	39368											
CEACAM8	1088	genome.wustl.edu	37	chr19	43087409	43087409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagagctactatatcagagCcaccctggccagtactccaa	12	7	7	15	0	1	2	1	0	0	2	2	2	2	2	5	1	4	2	5	1	5	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:43087409C>T	ENST00000244336.5	-	5	1140	c.1039G>A	c.(1039-1041)Gct>Act	p.A347T	CEACAM8_ENST00000599005.1_Missense_Mutation_p.A49T|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	347					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TATATCAGAGCCACCCTGGCC	0.488																																																	0													94	84	87					19																	43087409		2203	4300	6503	SO:0001583	missense	0			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.1039G>A	19.37:g.43087409C>T	ENSP00000244336:p.Ala347Thr		O60399|Q16574	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A347T	ENST00000244336.5	37	c.1039	CCDS12610.1	19	.	.	.	.	.	.	.	.	.	.	c	9.811	1.183236	0.21870	.	.	ENSG00000124469	ENST00000244336	T	0.20332	2.08	1.7	0.626	0.17670	.	.	.	.	.	T	0.28764	0.0713	M	0.73962	2.25	0.09310	N	1	D	0.53619	0.961	P	0.49637	0.617	T	0.15549	-1.0433	9	0.87932	D	0	.	4.3375	0.11094	0.0:0.7872:0.0:0.2128	.	347	P31997	CEAM8_HUMAN	T	347	ENSP00000244336:A347T	ENSP00000244336:A347T	A	-	1	0	CEACAM8	47779249	0.001000	0.12720	0.006000	0.13384	0.024000	0.10985	-0.035000	0.12205	0.291000	0.22468	-0.704000	0.03662	GCT	CEACAM8	-	NULL	ENSG00000124469		0.488	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM8	HGNC	protein_coding	OTTHUMT00000321430.1	-	0	38	0	C			43087409	-1	tier1	-	no_errors	ENST00000244336	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.007	T	T	43087409	C	T	43087409	3	4	154	1	0	0	0	0	1	0	0	0	3205	739	26	3	14	3	CEACAM8	19	43087409	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	6748139	43087409	16041574	179	39369											
PRR12	57479	genome.wustl.edu	37	chr19	50102744	50102744	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaagcgccacccaccactCtaccaggcgggcctgacgcc	8	3	11	19	3	1	1	0	1	1	0	1	1	1	1	6	3	2	1	6	3	2	1			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:50102744C>G	ENST00000418929.2	+	5	3906	c.3894C>G	c.(3892-3894)ctC>ctG	p.L1298L		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)		ACCCACCACTCTACCAGGCGG	0.647																																																	0													9	12	11					19																	50102744		2054	4188	6242	SO:0001819	synonymous_variant	0			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.3894C>G	19.37:g.50102744C>G			E9PB06|Q8N4J6	Silent	SNP	NULL	p.L1298	ENST00000418929.2	37	c.3894	CCDS46143.1	19																																																																																			PRR12	-	NULL	ENSG00000126464		0.647	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	-	0	49	0	C	NM_020719		50102744	1	tier1	-	no_errors	ENST00000418929	ensembl	human	novel	74_37	silent	26.92	57	21	SNP	0.858	G	G	50102744	C	G	50102744	2	3	154	1	0	0	0	0	0	0	0	1	12626	900	32	5		5	PRR12	19	50102744	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	7015335	50102744	9026239	180	39370											
MED25	81857	genome.wustl.edu	37	chr19	50334095	50334095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtctggtctccactgtggCccctggctccggcctggctc	2	10	12	17	1	2	0	0	0	2	0	5	0	3	0	5	5	0	2	5	5	0	0			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:50334095C>A	ENST00000312865.6	+	9	1105	c.1052C>A	c.(1051-1053)gCc>gAc	p.A351D	MED25_ENST00000538643.1_Missense_Mutation_p.A138D	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	351	Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCCACTGTGGCCCCTGGCTCC	0.716																																					GBM(51;894 1657 37868)												0													37	43	41					19																	50334095		2199	4294	6493	SO:0001583	missense	0			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1052C>A	19.37:g.50334095C>A	ENSP00000326767:p.Ala351Asp		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.A351D	ENST00000312865.6	37	c.1052	CCDS33075.1	19	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509622	0.44660	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070	T;T	0.79352	-1.26;-1.26	5.58	4.56	0.56223	Mediator complex, subunit Med25, synapsin 1 (1);	0.376195	0.28736	N	0.014310	T	0.74627	0.3741	N	0.14661	0.345	0.36072	D	0.842207	D;D;D	0.67145	0.992;0.996;0.977	P;D;P	0.67382	0.883;0.951;0.812	T	0.73288	-0.4030	10	0.12103	T	0.63	.	13.1865	0.59684	0.0:0.9221:0.0:0.0779	.	138;351;351	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	D	351;351;351;351;351;138;86	ENSP00000326767:A351D;ENSP00000437496:A138D	ENSP00000326767:A351D	A	+	2	0	MED25	55025907	0.994000	0.37717	0.918000	0.36340	0.268000	0.26511	3.445000	0.52921	1.360000	0.45960	0.655000	0.94253	GCC	MED25	-	pfam_Mediator_Med25_SD1	ENSG00000104973		0.716	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1		0	12	0	C	NM_030973		50334095	1			no_errors	ENST00000312865	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.994	A	A	50334095	C	A	50334095	3	1	154	1	0	0	0	0	1	0	0	0	9481	739	26	3	1086	3	MED25	19	50334095	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	231351	50334095	8794888	181	39371											
ZNF534	147658	genome.wustl.edu	37	chr19	52941771	52941771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcatactggagagagacCatacaaatgtaatgaatgtg	16	10	10	5	0	1	3	1	1	0	2	1	5	1	3	1	1	2	2	1	1	5	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:52941771C>T	ENST00000332323.6	+	4	1158	c.1097C>T	c.(1096-1098)cCa>cTa	p.P366L	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.P353L|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	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)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GGAGAGAGACCATACAAATGT	0.418																																																	0													103	99	100					19																	52941771		692	1591	2283	SO:0001583	missense	0			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.1097C>T	19.37:g.52941771C>T	ENSP00000327538:p.Pro366Leu		Q76KX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P366L	ENST00000332323.6	37	c.1097	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876180	0.33162	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.27557	1.66;1.66	1.82	0.746	0.18365	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53110	0.1776	M	0.84773	2.715	0.49483	D	0.999797	P;D	0.89917	0.938;1.0	B;D	0.97110	0.38;1.0	T	0.56860	-0.7909	9	0.66056	D	0.02	.	7.534	0.27700	0.0:0.8341:0.0:0.1659	.	353;366	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	L	366;353;365	ENSP00000327538:P366L;ENSP00000391358:P353L	ENSP00000327538:P366L	P	+	2	0	ZNF534	57633583	0.000000	0.05858	0.026000	0.17262	0.003000	0.03518	0.044000	0.13992	0.983000	0.38602	0.467000	0.42956	CCA	ZNF534	-	pfscan_Znf_C2H2	ENSG00000198633		0.418	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	-	0	21	0	C	NM_182512		52941771	1	tier1	-	no_errors	ENST00000332323	ensembl	human	known	74_37	missense	52.27	21	23	SNP	0.706	T	T	52941771	C	T	52941771	3	4	154	1	0	0	0	0	1	0	0	0	18021	594	21	3	1111	3	ZNF534	19	52941771	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	2607676	52941771	6187212	182	39372											
KIR2DL1	3811	genome.wustl.edu	37	chr19	55286739	55286739	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accatctatccagggaagggGaggcccatgaacgtaggctc	11	6	13	11	1	1	1	0	1	1	0	3	3	2	3	3	5	1	2	3	5	4	2	rs373043299		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:55286739G>A	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000336077.6_Missense_Mutation_p.E165K|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.E165K|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|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)		CAGGGAAGGGGAGGCCCATGA	0.612													.|||	1	0.000199681	8e-04	0	5008	,	,		14119	0		0	False		,,,				2504	0																0								G	LYS/GLU	3,4107		0,3,2052	81	89	86		493	1.1	0	19		86	0,8000		0,0,4000	no	missense	KIR2DL1	NM_014218.2	56	0,3,6052	AA,AG,GG		0.0,0.073,0.0248		165/349	55286739	3,12107	2055	4000	6055	SO:0001627	intron_variant	0			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.35-42250G>A	19.37:g.55286739G>A			O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.E165K	ENST00000538269.1	37	c.493		19	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252878	0.22965	7.3E-4	0.0	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.16196	2.36;2.36	1.1	1.1	0.20463	.	.	.	.	.	T	0.16599	0.0399	M	0.74389	2.26	0.09310	N	1	B;P	0.41080	0.028;0.737	B;B	0.33960	0.047;0.173	T	0.21861	-1.0233	9	0.87932	D	0	.	5.5929	0.17311	0.0:0.0:1.0:0.0	.	165;165	Q6IST4;Q6H2H3	.;.	K	165	ENSP00000336769:E165K;ENSP00000291633:E165K	ENSP00000291633:E165K	E	+	1	0	KIR2DL1	59978551	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.074000	0.11450	0.924000	0.37069	0.184000	0.17185	GAG	KIR2DL1	-	pfam_Immunoglobulin,smart_Ig_sub	ENSG00000125498		0.612	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	HGNC	protein_coding		-	0	106	0	G	NM_013289		55286739	1	tier1	-	no_errors	ENST00000336077	ensembl	human	known	74_37	missense	19.50	128	31	SNP	0.002	A	A	55286739	G	A	55286739	1	1	154	0	1	0	0	0	0	0	0	0	8343	1175	41	3		3	KIR2DL1	19	55286739	Intron	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	2344968	55286739	3842244	183	39373											
SLC4A11	83959	genome.wustl.edu	37	chr20	3211194	3211194	+	Frame_Shift_Del	DEL	A	A	-																															tcatgaccaggctgaggttgAaaaaggcataaagcgcaagg																										TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr20:3211194delA	ENST00000380056.3	-	11	1477	c.1430delT	c.(1429-1431)ttcfs	p.F477fs	SLC4A11_ENST00000380059.3_Frame_Shift_Del_p.F504fs|SLC4A11_ENST00000539553.2_Frame_Shift_Del_p.F461fs|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	477	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCTGAGGTTGAAAAAGGCATA	0.527																																					NSCLC(190;922 2139 10266 10292 38692)												0													107	106	107					20																	3211194		2203	4300	6503	SO:0001589	frameshift_variant	0			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1430delT	20.37:g.3211194delA	ENSP00000369396:p.Phe477fs		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Frame_Shift_Del	DEL	pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.F504fs	ENST00000380056.3	37	c.1511	CCDS13052.1	20																																																																																			SLC4A11	-	pfam_HCO3_transpt_C	ENSG00000088836		0.527	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1		0	17	0	A			3211194	-1	tier1		no_errors	ENST00000380059	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	1.000	-	-	3211194	A	-	3211194	7	5	154	1	0	1	0	1	0	0	0	0	14697	246	9	0	1281	0	SLC4A11	20	3211194	Frame_Shift_Del	DEL	A	TCGA-S8-A6BW-01A-11D-A31U-09		3211194	59814326	184	39374											
RALGAPA2	57186	genome.wustl.edu	37	chr20	20563841	20563841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgcctcattggtacagcCcagagttgtgtcactgttgg	6	13	11	11	0	3	1	2	0	1	1	3	1	3	1	2	2	3	3	2	2	1	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr20:20563841C>A	ENST00000202677.7	-	20	2567	c.2560G>T	c.(2560-2562)Ggc>Tgc	p.G854C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	854					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						TTGGTACAGCCCAGAGTTGTG	0.448																																																	0													89	86	87					20																	20563841		1923	4125	6048	SO:0001583	missense	0			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.2560G>T	20.37:g.20563841C>A	ENSP00000202677:p.Gly854Cys		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.G854C	ENST00000202677.7	37	c.2560	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.59|12.59	1.984185|1.984185	0.35036|0.35036	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	D|.	0.95035|.	-3.59|.	6.07|6.07	5.12|5.12	0.69794|0.69794	.|.	0.051398|.	0.85682|.	D|.	0.000000|.	T|T	0.75057|0.75057	0.3798|0.3798	M|M	0.73598|0.73598	2.24|2.24	0.51767|0.51767	D|D	0.999933|0.999933	D;P|.	0.61080|.	0.989;0.943|.	P;P|.	0.53518|.	0.728;0.503|.	T|T	0.75747|0.75747	-0.3209|-0.3209	10|5	0.59425|.	D|.	0.04|.	.|.	16.3721|16.3721	0.83368|0.83368	0.133:0.867:0.0:0.0|0.133:0.867:0.0:0.0	.|.	692;854|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	C|C	854|670	ENSP00000202677:G854C|.	ENSP00000202677:G854C|.	G|W	-|-	1|3	0|0	RALGAPA2|RALGAPA2	20511841|20511841	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.315000|0.315000	0.28087|0.28087	1.596000|1.596000	0.36718|0.36718	1.553000|1.553000	0.49476|0.49476	0.655000|0.655000	0.94253|0.94253	GGC|TGG	RALGAPA2	-	NULL	ENSG00000188559		0.448	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	-	0	49	0	C	NM_020343		20563841	-1	tier1	-	no_errors	ENST00000202677	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	A	A	20563841	C	A	20563841	3	1	154	1	0	0	0	0	1	0	0	0	13059	623	22	3	3141	3	RALGAPA2	20	20563841	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	17352647	20563841	42461679	185	39375											
CDH22	64405	genome.wustl.edu	37	chr20	44815563	44815563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gattcggatccttagggatgCccgggatagctgtgcatgat	8	11	14	8	2	0	1	0	1	0	0	2	5	1	4	2	3	3	2	2	3	2	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr20:44815563C>A	ENST00000372262.3	-	8	1847	c.1447G>T	c.(1447-1449)Gca>Tca	p.A483S	CDH22_ENST00000537909.1_Missense_Mutation_p.A483S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	483	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A483T(1)		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)				CTTAGGGATGCCCGGGATAGC	0.547																																																	1	Substitution - Missense(1)	ovary(1)											227	206	213					20																	44815563		2203	4300	6503	SO:0001583	missense	0			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.1447G>T	20.37:g.44815563C>A	ENSP00000361336:p.Ala483Ser		B9EGK7|O43205	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A483S	ENST00000372262.3	37	c.1447	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519832	0.44866	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.55588	0.51;0.51	4.12	4.12	0.48240	Cadherin (5);Cadherin-like (1);	0.505774	0.21808	N	0.068810	T	0.51669	0.1688	M	0.63169	1.94	0.29497	N	0.855219	B	0.10296	0.003	B	0.06405	0.002	T	0.56001	-0.8051	10	0.59425	D	0.04	.	15.5603	0.76240	0.0:1.0:0.0:0.0	.	483	Q9UJ99	CAD22_HUMAN	S	483	ENSP00000361336:A483S;ENSP00000437790:A483S	ENSP00000361336:A483S	A	-	1	0	CDH22	44248970	0.981000	0.34729	0.991000	0.47740	0.903000	0.53119	2.074000	0.41529	2.151000	0.67156	0.442000	0.29010	GCA	CDH22	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000149654		0.547	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1		0	38	0	C	NM_021248		44815563	-1			no_errors	ENST00000372262	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.996	A	A	44815563	C	A	44815563	3	1	154	1	0	0	0	0	1	0	0	0	3114	739	26	3	1055	3	CDH22	20	44815563	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	24251722	44815563	18209957	186	39376											
SNAI1	6615	genome.wustl.edu	37	chr20	48600834	48600834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgtctgcggaacctgcGggaaggccttctctaggccc	5	8	13	15	3	2	0	0	0	2	0	3	2	2	2	4	4	4	0	4	4	3	2			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr20:48600834G>A	ENST00000244050.2	+	2	617	c.556G>A	c.(556-558)Ggg>Agg	p.G186R		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	186	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|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 (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|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 regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGGAACCTGCGGGAAGGCCTT	0.622																																																	0													26	25	26					20																	48600834		2203	4300	6503	SO:0001583	missense	0			AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.556G>A	20.37:g.48600834G>A	ENSP00000244050:p.Gly186Arg		B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G186R	ENST00000244050.2	37	c.556	CCDS13423.1	20	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768518	0.90020	.	.	ENSG00000124216	ENST00000244050	T	0.07444	3.19	4.58	4.58	0.56647	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	0.37544	0.1007	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50432	-0.8829	10	0.72032	D	0.01	-25.2652	17.7592	0.88460	0.0:0.0:1.0:0.0	.	186	O95863	SNAI1_HUMAN	R	186	ENSP00000244050:G186R	ENSP00000244050:G186R	G	+	1	0	SNAI1	48034241	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	9.420000	0.97426	2.256000	0.74724	0.557000	0.71058	GGG	SNAI1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124216		0.622	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	HGNC	protein_coding	OTTHUMT00000080350.1	-	0	34	0	G			48600834	1	tier1	-	no_errors	ENST00000244050	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	A	A	48600834	G	A	48600834	3	1	154	1	0	0	0	0	1	0	0	0	14871	1116	39	1	562	1	SNAI1	20	48600834	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	3785271	48600834	14424686	187	39377											
ATP9A	10079	genome.wustl.edu	37	chr20	50244141	50244141	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccagaacaacttacttCaaagtcctgatactgctcct	11	11	6	13	0	1	2	1	1	0	1	4	2	4	2	3	1	5	1	3	1	5	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr20:50244141C>A	ENST00000338821.5	-	17	2107	c.1843G>T	c.(1843-1845)Gaa>Taa	p.E615*	ATP9A_ENST00000311637.5_Nonsense_Mutation_p.E479*|ATP9A_ENST00000402822.1_Nonsense_Mutation_p.E494*	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	615					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						caACTTACTTCAAAGTCCTGA	0.537																																																	0													224	197	206					20																	50244141		2203	4300	6503	SO:0001587	stop_gained	0			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.1843G>T	20.37:g.50244141C>A	ENSP00000342481:p.Glu615*		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E615*	ENST00000338821.5	37	c.1843	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.133198	0.98085	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	.	.	.	4.89	4.89	0.63831	.	0.049032	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-29.0117	18.4132	0.90559	0.0:1.0:0.0:0.0	.	.	.	.	X	479;615;494	.	ENSP00000309086:E479X	E	-	1	0	ATP9A	49677548	1.000000	0.71417	0.283000	0.24790	0.112000	0.19704	7.339000	0.79282	2.411000	0.81874	0.561000	0.74099	GAA	ATP9A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000054793		0.537	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	-	0	42	0	C	NM_006045		50244141	-1	tier1	-	no_errors	ENST00000338821	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	A	A	50244141	C	A	50244141	4	1	154	1	0	0	0	0	0	1	0	0	1199	835	29	3	1348	3	ATP9A	20	50244141	Nonsense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	1643307	50244141	12781379	188	39378											
PSMG1	8624	genome.wustl.edu	37	chr21	40551903	40551904	+	Frame_Shift_Del	DEL	AG	AG	-																															aacatagcaactgcactgacAgagaaaaacctgaaaagtca																										TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr21:40551903_40551904delAG	ENST00000331573.3	-	4	867_868	c.402_403delCT	c.(400-405)ctctgtfs	p.C135fs	PSMG1_ENST00000380900.2_Intron	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	135					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				CTGCACTGACAGAGAAAAACCT	0.371																																																	0																																										SO:0001589	frameshift_variant	0			AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"Down syndrome critical region gene 2"	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.402_403delCT	21.37:g.40551905_40551906delAG	ENSP00000329915:p.Cys135fs		B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Frame_Shift_Del	DEL	pirsf_Proteasome_assmbl_chp_1	p.C135fs	ENST00000331573.3	37	c.403_402	CCDS13660.1	21																																																																																			PSMG1	-	pirsf_Proteasome_assmbl_chp_1	ENSG00000183527		0.371	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMG1	HGNC	protein_coding	OTTHUMT00000141404.2		0	25	0	AG	NM_003720		40551904	-1	tier1		no_errors	ENST00000331573	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.986:0.079	-	-	40551904	AG	-	40551903	7	5	154	1	0	1	0	1	0	0	0	0	12753	188	7	0	479	0	PSMG1	21	40551903	Frame_Shift_Del	DEL	AG	TCGA-S8-A6BW-01A-11D-A31U-09		40551903	7577992	189	39379											
HMGN1	3150	genome.wustl.edu	37	chr21	40720242	40720242	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgctgcctttttcggcttCgcttccacttttgcaggagg	3	15	11	12	2	0	0	0	0	0	0	3	1	1	1	2	3	3	5	2	3	0	6			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr21:40720242C>T	ENST00000380749.5	-	4	384	c.102G>A	c.(100-102)gcG>gcA	p.A34A	HMGN1_ENST00000380748.1_Silent_p.A24A|HMGN1_ENST00000489072.1_5'UTR|snoU13_ENST00000459446.1_RNA|HMGN1_ENST00000361263.4_5'Flank|HMGN1_ENST00000380747.1_Silent_p.A50A	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	34					chromatin organization (GO:0006325)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|post-embryonic camera-type eye morphogenesis (GO:0048597)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of development, heterochronic (GO:0040034)|regulation of epithelial cell proliferation (GO:0050678)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to UV-B (GO:0010224)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TTTTCGGCTTCGCTTCCACTT	0.562																																																	0													90	90	90					21																	40720242		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33559.1	21q22.3	2011-07-01	2011-04-05	2002-08-16	ENSG00000205581	ENSG00000205581		"High-mobility group / Canonical"	4984	protein-coding gene	gene with protein product	"high-mobility group nucleosome binding 1", "nonhistone chromosomal protein HMG-14"	163920	"high-mobility group (nonhistone chromosomal) protein 14", "high-mobility group nucleosome binding domain 1"	HMG14		3782107, 2563381	Standard	NM_004965		Approved	FLJ27265, FLJ31471, MGC104230, MGC117425	uc002yxo.3	P05114	OTTHUMG00000066178	ENST00000380749.5:c.102G>A	21.37:g.40720242C>T			Q3KQR8	Silent	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.A34	ENST00000380749.5	37	c.102	CCDS33559.1	21																																																																																			HMGN1	-	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	ENSG00000205581		0.562	HMGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN1	HGNC	protein_coding	OTTHUMT00000141645.2	-	0	31	0	C	NM_004965		40720242	-1	tier1	-	no_errors	ENST00000380749	ensembl	human	known	74_37	silent	59.09	9	13	SNP	0.759	T	T	40720242	C	T	40720242	2	4	154	1	0	0	0	0	0	0	0	1	7261	871	31	1		1	HMGN1	21	40720242	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	168339	40720242	7409653	190	39380											
UBE2G2	7327	genome.wustl.edu	37	chr21	46207977	46207977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaactttggtaccttacctGctacaattccttccggagga	9	14	7	11	1	0	0	0	0	0	0	2	2	2	2	4	3	5	2	4	3	5	7			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr21:46207977G>T	ENST00000345496.2	-	2	347	c.77C>A	c.(76-78)gCa>gAa	p.A26E	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_5'UTR	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	26					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K48-linked ubiquitination (GO:0070936)|protein N-linked glycosylation via asparagine (GO:0018279)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		TACCTTACCTGCTACAATTCC	0.303																																																	0													50	52	52					21																	46207977		2202	4300	6502	SO:0001583	missense	0			BC008351	CCDS13714.1, CCDS33586.1	21q22.3	2011-05-19	2011-05-19		ENSG00000184787	ENSG00000184787		"Ubiquitin-conjugating enzymes E2"	12483	protein-coding gene	gene with protein product		603124	"ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)", "ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)"			9693041, 9925943	Standard	NM_003343		Approved	UBC7	uc002zfy.3	P60604	OTTHUMG00000089179	ENST00000345496.2:c.77C>A	21.37:g.46207977G>T	ENSP00000338348:p.Ala26Glu		A6NMQ7|A8K3L4|D3DSL7|P56554	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.A26E	ENST00000345496.2	37	c.77	CCDS13714.1	21	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510487	0.85389	.	.	ENSG00000184787	ENST00000345496	T	0.38401	1.14	5.52	5.52	0.82312	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87550	0.2464	10	0.87932	D	0	-14.1132	16.3909	0.83537	0.0:0.0:1.0:0.0	.	26	P60604	UB2G2_HUMAN	E	26	ENSP00000338348:A26E	ENSP00000338348:A26E	A	-	2	0	UBE2G2	45032405	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.906000	0.69900	2.595000	0.87683	0.655000	0.94253	GCA	UBE2G2	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000184787		0.303	UBE2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2G2	HGNC	protein_coding	OTTHUMT00000202647.2	-	0	40	0	G	NM_182688		46207977	-1	tier1	-	no_errors	ENST00000345496	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	46207977	G	T	46207977	3	4	154	1	0	0	0	0	1	0	0	0	16906	1319	46	3	440	3	UBE2G2	21	46207977	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	5487735	46207977	1921918	191	39381											
CLTCL1	8218	genome.wustl.edu	37	chr22	19222152	19222152	+	Silent	SNP	C	C	A	0	0	0	1	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	ttactacgaacggccaaacgCagaccaaggtctggattctg	12	8	10	11	3	2	1	0	0	2	1	2	3	2	2	2	3	4	1	2	3	5	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr22:19222152C>A	ENST00000263200.10	-	7	1119	c.1047G>T	c.(1045-1047)ctG>ctT	p.L349L	CLTCL1_ENST00000427926.1_Silent_p.L349L|CLTCL1_ENST00000353891.5_Silent_p.L349L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	349	Globular terminal domain.				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)					CGGCCAAACGCAGACCAAGGT	0.468			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													114	113	113					22																	19222152		1945	4144	6089	SO:0001819	synonymous_variant	0				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.1047G>T	22.37:g.19222152C>A			B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.L349	ENST00000263200.10	37	c.1047	CCDS46662.1	22																																																																																			CLTCL1	-	pfam_Clathrin_H-chain_linker_core,superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.468	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	-	0	30	0	C	NM_007098		19222152	-1	tier1	-	no_errors	ENST00000263200	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	A	A	19222152	C	A	19222152	2	1	154	1	0	0	0	0	0	0	0	1	3574	697	25	3		3	CLTCL1	22	19222152	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09		19222152	32082414	192	39382											
PES1	9514	genome.wustl.edu	37	chr22	30973103	30973103	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggctttccgcttctccGccagcttgttggcctgtgag	2	13	13	13	3	1	1	0	1	1	0	3	1	2	1	4	2	1	4	4	2	0	4			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr22:30973103G>T	ENST00000406361.1	-	0	0				PES1_ENST00000405677.1_Missense_Mutation_p.A427E|PES1_ENST00000335214.6_Missense_Mutation_p.A561E|PES1_ENST00000402281.1_Missense_Mutation_p.A427E|PES1_ENST00000402284.3_Missense_Mutation_p.A549E|GAL3ST1_ENST00000402369.1_5'Flank|PES1_ENST00000354694.7_Missense_Mutation_p.A566E			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1						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						CCGCTTCTCCGCCAGCTTGTT	0.602																																																	0													55	46	49					22																	30973103		2203	4300	6503	SO:0001631	upstream_gene_variant	0			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		22.37:g.30973103G>T	Exception_encountered		Q96C63	Missense_Mutation	SNP	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.A566E	ENST00000406361.1	37	c.1697	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295694	0.40594	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.20881	2.05;2.04;2.04;2.05;2.04	5.3	5.3	0.74995	.	0.059010	0.64402	D	0.000002	T	0.35248	0.0925	L	0.57536	1.79	0.80722	D	1	P;P;D;P	0.58970	0.465;0.826;0.984;0.465	B;P;P;B	0.57468	0.177;0.492;0.821;0.177	T	0.07328	-1.0778	10	0.07644	T	0.81	-16.3206	18.5425	0.91033	0.0:0.0:1.0:0.0	.	566;549;561;566	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	E	566;427;427;549;561	ENSP00000346725:A566E;ENSP00000384366:A427E;ENSP00000385654:A427E;ENSP00000384252:A549E;ENSP00000334612:A561E	ENSP00000334612:A561E	A	-	2	0	PES1	29303103	1.000000	0.71417	0.979000	0.43373	0.805000	0.45488	6.093000	0.71422	2.495000	0.84180	0.555000	0.69702	GCG	PES1	-	NULL	ENSG00000100029		0.602	GAL3ST1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321744.1	-	0	45	0	G	NM_004861		30973103	-1	tier1	-	no_errors	ENST00000354694	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.998	T	T	30973103	G	T	30973103	1	4	154	0	1	0	0	0	0	0	0	0	11772	1087	38	2		2	PES1	22	30973103	5'Flank	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	11750951	30973103	20331463	193	39383											
APOL5	80831	genome.wustl.edu	37	chr22	36122366	36122366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttgaagagctgatgcGatgtgacaaagattccatgc	11	12	11	7	1	1	5	0	3	1	2	2	6	2	5	1	0	3	2	1	0	2	2	rs369534518		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr22:36122366G>T	ENST00000249044.2	+	3	251	c.251G>T	c.(250-252)cGa>cTa	p.R84L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	84					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						GAGCTGATGCGATGTGACAAA	0.413																																																	0													112	99	103					22																	36122366		2203	4300	6503	SO:0001583	missense	0			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.251G>T	22.37:g.36122366G>T	ENSP00000249044:p.Arg84Leu		Q5TFL9|Q9UGW5	Missense_Mutation	SNP	pfam_ApoL	p.R84L	ENST00000249044.2	37	c.251	CCDS13920.1	22	.	.	.	.	.	.	.	.	.	.	G	2.440	-0.328807	0.05314	.	.	ENSG00000128313	ENST00000249044	T	0.05786	3.39	2.38	-4.76	0.03229	.	6.533530	0.00754	N	0.001097	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.16289	0.015	T	0.37384	-0.9708	10	0.21014	T	0.42	.	0.9921	0.01459	0.3877:0.1254:0.3119:0.175	.	84	Q9BWW9	APOL5_HUMAN	L	84	ENSP00000249044:R84L	ENSP00000249044:R84L	R	+	2	0	APOL5	34452312	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.526000	0.02229	-2.415000	0.00568	-1.797000	0.00622	CGA	APOL5	-	pfam_ApoL	ENSG00000128313		0.413	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL5	HGNC	protein_coding	OTTHUMT00000318979.1		0	11	0	G	NM_030642		36122366	1			no_errors	ENST00000249044	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.000	T	T	36122366	G	T	36122366	3	4	154	1	0	0	0	0	1	0	0	0	809	1058	37	2	261	2	APOL5	22	36122366	Missense_Mutation	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09	5149263	36122366	15182200	194	39384											
EFCAB6	64800	genome.wustl.edu	37	chr22	44178174	44178174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatgcgacctaagccagtCtggtataatcgccattttgc	10	11	10	10	2	1	0	0	0	1	0	2	2	1	1	3	2	3	1	3	2	3	5			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr22:44178174C>T	ENST00000262726.7	-	3	278	c.25G>A	c.(25-27)Gac>Aac	p.D9N	EFCAB6_ENST00000356087.4_5'UTR|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000358439.4_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	9					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)				CTAAGCCAGTCTGGTATAATC	0.383																																																	0													188	173	178					22																	44178174		2203	4300	6503	SO:0001583	missense	0			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.25G>A	22.37:g.44178174C>T	ENSP00000262726:p.Asp9Asn		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D9N	ENST00000262726.7	37	c.25	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043635	0.36085	.	.	ENSG00000186976	ENST00000262726	T	0.14640	2.49	4.47	-0.108	0.13588	.	0.709516	0.12154	N	0.494579	T	0.10508	0.0257	L	0.51422	1.61	0.09310	N	0.999995	B;B	0.17465	0.009;0.022	B;B	0.17098	0.016;0.017	T	0.34104	-0.9842	10	0.32370	T	0.25	-0.954	2.6553	0.05011	0.331:0.4149:0.1607:0.0934	.	9;9	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	N	9	ENSP00000262726:D9N	ENSP00000262726:D9N	D	-	1	0	EFCAB6	42509507	0.000000	0.05858	0.003000	0.11579	0.118000	0.20060	-0.018000	0.12568	-0.005000	0.14395	-0.181000	0.13052	GAC	EFCAB6	-	NULL	ENSG00000186976		0.383	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	-	0	57	0	C	NM_022785		44178174	-1	tier1	-	no_errors	ENST00000262726	ensembl	human	known	74_37	missense	24.62	49	16	SNP	0.001	T	T	44178174	C	T	44178174	3	4	154	1	0	0	0	0	1	0	0	0	4953	913	32	3	4600	3	EFCAB6	22	44178174	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	8055808	44178174	7126392	195	39385											
MED14	9282	genome.wustl.edu	37	chrX	40513746	40513746	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgaagccatgtcataaatGattggaactataatactaac	16	11	6	8	0	1	2	1	2	0	0	1	3	1	3	2	1	4	0	2	1	8	6			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chrX:40513746G>A	ENST00000324817.1	-	30	4279	c.4161C>T	c.(4159-4161)atC>atT	p.I1387I		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1387					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTCATAAATGATTGGAACTA	0.428																																																	0													112	89	97					X																	40513746		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.4161C>T	X.37:g.40513746G>A			Q4KMR7|Q9UNB3	Silent	SNP	pfam_Mediator_Med14	p.I1387	ENST00000324817.1	37	c.4161	CCDS14254.1	X																																																																																			MED14	-	NULL	ENSG00000180182		0.428	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	-	0	18	0	G	NM_004229		40513746	-1	tier1	-	no_errors	ENST00000324817	ensembl	human	known	74_37	silent	25.81	23	8	SNP	0.999	A	A	40513746	G	A	40513746	2	1	154	1	0	0	0	0	0	0	0	1	9470	1280	45	3		3	MED14	23	40513746	Silent	SNP	G	TCGA-S8-A6BW-01A-11D-A31U-09		40513746	114756814	196	39386											
AKAP4	8852	genome.wustl.edu	37	chrX	49958407	49958407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaattctttgctctctctCtgggacatctgtttgtctcc	5	17	7	12	0	5	0	0	0	5	0	8	1	5	1	1	1	1	3	1	1	1	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chrX:49958407C>T	ENST00000376056.2	-	5	1080	c.930G>A	c.(928-930)caG>caA	p.Q310Q	AKAP4_ENST00000358526.2_Silent_p.Q319Q|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.Q310Q					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)					TGCTCTCTCTCTGGGACATCT	0.468																																																	0													48	40	43					X																	49958407		2203	4299	6502	SO:0001819	synonymous_variant	0			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.930G>A	X.37:g.49958407C>T				Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.Q319	ENST00000376056.2	37	c.957	CCDS14330.1	X																																																																																			AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000147081		0.468	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	-	0	25	0	C	NM_003886		49958407	-1	tier1	-	no_errors	ENST00000358526	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.261	T	T	49958407	C	T	49958407	2	4	154	1	0	0	0	0	0	0	0	1	453	912	32	3		3	AKAP4	23	49958407	Silent	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	9444661	49958407	105312153	197	39387											
CAPN6	827	genome.wustl.edu	37	chrX	110489963	110489963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctgccccaagaactgatCacagaattttcggctgttcc	11	10	7	13	1	1	3	1	1	0	2	3	3	2	3	4	1	3	2	4	1	4	3			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chrX:110489963C>T	ENST00000324068.1	-	13	1935	c.1768G>A	c.(1768-1770)Gat>Aat	p.D590N	CAPN6_ENST00000541758.1_Missense_Mutation_p.D335N	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	590	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AAGAACTGATCACAGAATTTT	0.517																																																	0													76	61	66					X																	110489963		2203	4300	6503	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1768G>A	X.37:g.110489963C>T	ENSP00000317214:p.Asp590Asn		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D590N	ENST00000324068.1	37	c.1768	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176434	0.78564	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.76839	-1.05;-1.05	5.24	5.24	0.73138	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.705359	0.13607	N	0.375440	D	0.88175	0.6366	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87750	0.2591	10	0.72032	D	0.01	.	12.7707	0.57419	0.0:0.8382:0.1618:0.0	.	590	Q9Y6Q1	CAN6_HUMAN	N	590;335	ENSP00000317214:D590N;ENSP00000441736:D335N	ENSP00000317214:D590N	D	-	1	0	CAPN6	110376619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.938000	0.63519	2.426000	0.82243	0.500000	0.49745	GAT	CAPN6	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000077274		0.517	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1		0	9	0	C			110489963	-1			no_errors	ENST00000324068	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T	T	110489963	C	T	110489963	3	4	154	1	0	0	0	0	1	0	0	0	2637	826	29	3	161	3	CAPN6	23	110489963	Missense_Mutation	SNP	C	TCGA-S8-A6BW-01A-11D-A31U-09	60531556	110489963	44780597	198	39388											
CPSF3L	54973	genome.wustl.edu	37	chr1	1250292	1250292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggatggtcgtggcgtacGtggactctgtgatgagcagg	7	9	17	8	4	1	2	0	2	1	0	2	4	1	4	0	5	2	2	0	5	1	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:1250292G>A	ENST00000435064.1	-	7	696	c.614C>T	c.(613-615)aCg>aTg	p.T205M	CPSF3L_ENST00000540437.1_Missense_Mutation_p.T211M|CPSF3L_ENST00000545578.1_Missense_Mutation_p.T176M|CPSF3L_ENST00000421495.2_De_novo_Start_OutOfFrame|CPSF3L_ENST00000419704.1_Missense_Mutation_p.T104M|CPSF3L_ENST00000411962.1_Missense_Mutation_p.T107M|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Missense_Mutation_p.T183M	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	205					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)		CGTGGCGTACGTGGACTCTGT	0.622																																																	0													84	71	75					1																	1250292		2201	4297	6498	SO:0001583	missense	0			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.614C>T	1.37:g.1250292G>A	ENSP00000413493:p.Thr205Met		A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.T211M	ENST00000435064.1	37	c.632	CCDS21.1	1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.002090	0.74932	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000526332	T;T;T;T;T;T;T	0.60797	0.23;0.23;0.23;0.23;0.16;0.23;0.47	5.53	5.53	0.82687	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.86410	0.5926	H	0.98370	4.215	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.998;1.0;1.0	D	0.91577	0.5276	10	0.87932	D	0	-24.9668	19.4626	0.94924	0.0:0.0:1.0:0.0	.	183;176;107;104;211;205	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	M	205;107;104;211;183;176;235;81	ENSP00000413493:T205M;ENSP00000404886:T104M;ENSP00000445001:T211M;ENSP00000392848:T183M;ENSP00000444672:T176M;ENSP00000411233:T235M;ENSP00000434790:T81M	ENSP00000400548:T107M	T	-	2	0	CPSF3L	1240155	1.000000	0.71417	0.922000	0.36590	0.255000	0.26057	9.321000	0.96353	2.601000	0.87937	0.651000	0.88453	ACG	CPSF3L	-	smart_Beta-lactamas-like	ENSG00000127054		0.622	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3L	HGNC	protein_coding	OTTHUMT00000009360.2	-	0	57	0	G	NM_017871		1250292	-1	tier1	-	no_errors	ENST00000540437	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	A	A	1250292	G	A	1250292	3	1	155	1	0	0	0	0	1	0	0	0	3834	1145	40	1	1232	1	CPSF3L	1	1250292	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09		1250292	248000329	1	39389											
ATAD3B	83858	genome.wustl.edu	37	chr1	1417530	1417530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggcagccaccgtggagcGggagatggagctgcggcaca	8	4	19	10	3	0	1	0	0	0	1	0	4	0	3	2	6	4	3	2	6	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:1417530G>A	ENST00000308647.7	+	6	643	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	ATAD3B_ENST00000378736.3_3'UTR|ATAD3B_ENST00000378741.3_Missense_Mutation_p.R8Q	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	176						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)		ACCGTGGAGCGGGAGATGGAG	0.682																																																	0													17	21	20					1																	1417530		2194	4290	6484	SO:0001583	missense	0			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.527G>A	1.37:g.1417530G>A	ENSP00000311766:p.Arg176Gln		A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R176Q	ENST00000308647.7	37	c.527	CCDS30.1	1	.	.	.	.	.	.	.	.	.	.	.	9.481	1.098284	0.20552	.	.	ENSG00000160072	ENST00000378741;ENST00000308647;ENST00000378736	T	0.17691	2.26	2.38	1.44	0.22558	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.062753	0.64402	D	0.000004	T	0.09642	0.0237	L	0.36672	1.1	0.35688	D	0.814629	B;P;B	0.39920	0.092;0.695;0.112	B;B;B	0.35278	0.013;0.199;0.041	T	0.34153	-0.9840	10	0.19147	T	0.46	.	5.7085	0.17921	0.2694:0.0:0.7306:0.0	.	130;97;176	Q5T9A4-3;G3V1I6;Q5T9A4	.;.;ATD3B_HUMAN	Q	8;176;8	ENSP00000311766:R176Q	ENSP00000311766:R176Q	R	+	2	0	ATAD3B	1407393	1.000000	0.71417	0.984000	0.44739	0.452000	0.32318	5.511000	0.67024	0.334000	0.23590	0.194000	0.17425	CGG	ATAD3B	-	pfam_DUF3523	ENSG00000160072		0.682	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	-	0	95	0	G	NM_031921		1417530	1	tier1	-	no_errors	ENST00000308647	ensembl	human	known	74_37	missense	28.79	47	19	SNP	0.996	A	A	1417530	G	A	1417530	3	1	155	1	0	0	0	0	1	0	0	0	1075	1116	39	1	549	1	ATAD3B	1	1417530	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	167238	1417530	247833091	2	39390											
VPS13D	55187	genome.wustl.edu	37	chr1	12409301	12409301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggcggctacaggccCggcccaaaggattgggtgta	7	9	14	11	2	1	0	0	0	1	0	1	1	1	1	2	6	1	2	2	6	3	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:12409301C>T	ENST00000358136.3	+	46	9431	c.9301C>T	c.(9301-9303)Cgg>Tgg	p.R3101W	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3076W	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)		GCTACAGGCCCGGCCCAAAGG	0.498																																																	0													133	134	133					1																	12409301		2203	4300	6503	SO:0001583	missense	0			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.9301C>T	1.37:g.12409301C>T	ENSP00000350854:p.Arg3101Trp			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.R3101W	ENST00000358136.3	37	c.9301	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292256	0.80914	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.61274	0.16;0.12	5.88	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.71195	0.3311	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	T	0.75662	-0.3240	10	0.87932	D	0	.	15.587	0.76491	0.3126:0.6874:0.0:0.0	.	3076;3100	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	W	3076;3101	ENSP00000348666:R3076W;ENSP00000350854:R3101W	ENSP00000348666:R3076W	R	+	1	2	VPS13D	12331888	0.993000	0.37304	0.999000	0.59377	0.996000	0.88848	0.980000	0.29513	1.473000	0.48159	0.655000	0.94253	CGG	VPS13D	-	NULL	ENSG00000048707		0.498	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0	49	0	C	NM_015378		12409301	1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.990	T	T	12409301	C	T	12409301	3	4	155	1	0	0	0	0	1	0	0	0	17241	643	23	1	9479	1	VPS13D	1	12409301	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	10991771	12409301	236841320	3	39391											
PDPN	10630	genome.wustl.edu	37	chr1	13940876	13940876	+	Missense_Mutation	SNP	T	T	A	0	1	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	cattggtgcaatcatcgttgTggttatgcgaaaaatgtcgg	10	13	12	6	3	1	0	1	0	0	0	3	1	1	0	0	3	2	3	0	3	4	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:13940876T>A	ENST00000509009.1	+	5	481	c.437T>A	c.(436-438)gTg>gAg	p.V146E	PDPN_ENST00000475043.1_Missense_Mutation_p.V109E|PDPN_ENST00000487038.1_Missense_Mutation_p.V109E|PDPN_ENST00000376057.4_Missense_Mutation_p.V227E|PDPN_ENST00000294489.6_Missense_Mutation_p.V227E|PDPN_ENST00000513143.1_Missense_Mutation_p.V109E|PDPN_ENST00000376061.4_Missense_Mutation_p.V109E					podoplanin											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)		ATCATCGTTGTGGTTATGCGA	0.423																																																	0													199	187	192					1																	13940876		2203	4300	6503	SO:0001583	missense	0			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	ENST00000509009.1:c.437T>A	1.37:g.13940876T>A	ENSP00000422977:p.Val146Glu			Missense_Mutation	SNP	pfam_Podoplanin	p.V227E	ENST00000509009.1	37	c.680		1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286703	0.59867	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	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	5.93	3.61	0.41365	.	0.705996	0.13190	N	0.406827	T	0.59985	0.2234	M	0.61703	1.905	0.09310	N	1	D;D;D;D	0.69078	0.997;0.997;0.996;0.996	D;D;D;D	0.68621	0.93;0.959;0.931;0.931	T	0.48864	-0.8997	10	0.87932	D	0	-25.0448	5.2172	0.15348	0.0:0.2548:0.0:0.7452	.	151;109;227;227	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	E	227;227;218;146;109;109;109;109	ENSP00000294489:V227E;ENSP00000365225:V227E;ENSP00000426302:V218E;ENSP00000422977:V146E;ENSP00000365229:V109E;ENSP00000425304:V109E;ENSP00000427537:V109E;ENSP00000426063:V109E	ENSP00000294489:V227E	V	+	2	0	PDPN	13813463	0.201000	0.23410	0.002000	0.10522	0.913000	0.54294	1.536000	0.36072	1.077000	0.40990	0.533000	0.62120	GTG	PDPN	-	pfam_Podoplanin	ENSG00000162493		0.423	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	PDPN	HGNC	protein_coding	OTTHUMT00000367736.1	-	0	131	0	T	NM_006474		13940876	1	tier1	-	no_errors	ENST00000294489	ensembl	human	known	74_37	missense	24.75	76	25	SNP	0.002	A	A	13940876	T	A	13940876	3	1	155	1	0	0	0	0	1	0	0	0	11727	1696	59	5	698	5	PDPN	1	13940876	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	1531575	13940876	235309745	4	39392											
UBR4	23352	genome.wustl.edu	37	chr1	19501494	19501494	+	Missense_Mutation	SNP	A	A	G	1	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	cctctgaggcttctggggacAggacacagtagaatctgggg	9	8	15	9	0	3	2	0	1	3	1	3	4	3	4	1	6	0	2	1	6	2	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:19501494A>G	ENST00000375254.3	-	21	2834	c.2807T>C	c.(2806-2808)cTg>cCg	p.L936P	UBR4_ENST00000375217.2_Missense_Mutation_p.L936P|UBR4_ENST00000375226.2_Missense_Mutation_p.L936P|UBR4_ENST00000375267.2_Missense_Mutation_p.L936P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	936					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)		TTCTGGGGACAGGACACAGTA	0.408																																																	0													100	94	96					1																	19501494		2203	4300	6503	SO:0001583	missense	0			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.2807T>C	1.37:g.19501494A>G	ENSP00000364403:p.Leu936Pro		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L936P	ENST00000375254.3	37	c.2807	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361960	0.82353	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.24350	1.87;1.87;1.86;1.86	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000002	T	0.31389	0.0795	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.33548	-0.9864	10	0.38643	T	0.18	.	16.1061	0.81223	1.0:0.0:0.0:0.0	.	936	Q5T4S7	UBR4_HUMAN	P	936;936;936;936;152	ENSP00000364403:L936P;ENSP00000364416:L936P;ENSP00000364365:L936P;ENSP00000364374:L936P	ENSP00000364365:L936P	L	-	2	0	UBR4	19374081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.850000	0.92190	2.284000	0.76573	0.528000	0.53228	CTG	UBR4	-	NULL	ENSG00000127481		0.408	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	71	0	A	NM_020765		19501494	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	G	G	19501494	A	G	19501494	3	3	155	1	0	0	0	0	1	0	0	0	16953	188	7	4	13088	4	UBR4	1	19501494	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	5560618	19501494	229749127	5	39393											
TCEB3	6924	genome.wustl.edu	37	chr1	24077814	24077814	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccatgggaaaggggttgtgaGtcaaaacaaggagcacaaat	16	6	13	6	0	1	1	1	1	0	0	1	3	1	3	1	4	2	2	1	4	5	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:24077814G>T	ENST00000418390.2	+	4	1068	c.797G>T	c.(796-798)aGt>aTt	p.S266I	TCEB3_ENST00000609199.1_Missense_Mutation_p.S240I	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	266					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)		GGGGTTGTGAGTCAAAACAAG	0.547											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71	80	77					1																	24077814		2203	4300	6503	SO:0001583	missense	0			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.797G>T	1.37:g.24077814G>T	ENSP00000395574:p.Ser266Ile	768	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom	p.S266I	ENST00000418390.2	37	c.797	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819392	0.50633	.	.	ENSG00000011007	ENST00000418390	T	0.08984	3.03	5.74	-4.08	0.03963	.	0.725562	0.13496	N	0.383647	T	0.08223	0.0205	M	0.66939	2.045	0.09310	N	1	P	0.34780	0.468	B	0.31191	0.125	T	0.09487	-1.0672	10	0.87932	D	0	-0.1175	7.9311	0.29904	0.1502:0.1938:0.656:0.0	.	266	Q14241	ELOA1_HUMAN	I	266	ENSP00000395574:S266I	ENSP00000395574:S266I	S	+	2	0	TCEB3	23950401	0.978000	0.34361	0.000000	0.03702	0.596000	0.36781	0.855000	0.27805	-0.758000	0.04690	-0.302000	0.09304	AGT	TCEB3	-	NULL	ENSG00000011007		0.547	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	-	0	58	0	G	NM_003198		24077814	1	tier1	-	no_errors	ENST00000418390	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.000	T	T	24077814	G	T	24077814	3	4	155	1	0	0	0	0	1	0	0	0	15728	1029	36	3	811	3	TCEB3	1	24077814	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	4576320	24077814	225172807	6	39394											
BAI2	576	genome.wustl.edu	37	chr1	32221809	32221809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgcaggccctgccggcagcgCggccacactcctcactccag	6	4	11	20	4	1	0	1	0	0	0	3	0	3	0	5	3	2	2	5	3	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:32221809C>T	ENST00000373658.3	-	4	970	c.629G>A	c.(628-630)cGc>cAc	p.R210H	MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398542.1_Missense_Mutation_p.R198H|BAI2_ENST00000373655.2_Missense_Mutation_p.R210H|BAI2_ENST00000257070.4_Missense_Mutation_p.R210H|BAI2_ENST00000398547.1_Missense_Mutation_p.R198H|BAI2_ENST00000398538.1_Missense_Mutation_p.R198H|BAI2_ENST00000527361.1_Missense_Mutation_p.R210H|BAI2_ENST00000398556.3_Missense_Mutation_p.R213H	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	210					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)		GCCGGCAGCGCGGCCACACTC	0.647																																																	0													25	32	30					1																	32221809		2200	4299	6499	SO:0001583	missense	0			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.629G>A	1.37:g.32221809C>T	ENSP00000362762:p.Arg210His		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R210H	ENST00000373658.3	37	c.629	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321283	0.41096	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.46451	1.5;1.7;0.92;0.92;1.86;0.87;0.87;0.94;1.47;1.34	5.2	4.27	0.50696	.	0.000000	0.42682	D	0.000678	T	0.26521	0.0648	N	0.02539	-0.55	0.80722	D	1	D;P;B;B;P;B	0.71674	0.998;0.698;0.422;0.44;0.698;0.297	P;B;B;B;B;B	0.54140	0.743;0.097;0.042;0.031;0.105;0.019	T	0.08330	-1.0727	10	0.48119	T	0.1	.	7.6223	0.28191	0.1657:0.7488:0.0:0.0854	.	198;210;198;198;210;210	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	H	213;198;210;210;198;210;210;198;203;244	ENSP00000381564:R213H;ENSP00000381555:R198H;ENSP00000362762:R210H;ENSP00000362759:R210H;ENSP00000381550:R198H;ENSP00000257070:R210H;ENSP00000435397:R210H;ENSP00000381548:R198H;ENSP00000410921:R203H;ENSP00000437219:R244H	ENSP00000257070:R210H	R	-	2	0	BAI2	31994396	0.844000	0.29557	0.962000	0.40283	0.979000	0.70002	1.624000	0.37018	2.598000	0.87819	0.462000	0.41574	CGC	BAI2	-	NULL	ENSG00000121753		0.647	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0	9	0	C	NM_001703		32221809	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	53.85	6	7	SNP	0.978	T	T	32221809	C	T	32221809	3	4	155	1	0	0	0	0	1	0	0	0	1300	768	27	1	4248	1	BAI2	1	32221809	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	8143995	32221809	217028812	7	39395											
CSF3R	1441	genome.wustl.edu	37	chr1	36938264	36938264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggctggggtccatggtccGcagcatggggggctccagtt	5	8	18	10	1	0	0	0	0	0	0	3	0	3	0	3	7	1	5	3	7	0	1	rs150616658		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:36938264G>A	ENST00000373106.1	-	7	1244	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	CSF3R_ENST00000418048.2_Missense_Mutation_p.R233W|CSF3R_ENST00000361632.4_Missense_Mutation_p.R233W|CSF3R_ENST00000338937.5_Missense_Mutation_p.R233W|CSF3R_ENST00000373104.1_Missense_Mutation_p.R233W|CSF3R_ENST00000440588.2_Missense_Mutation_p.R233W|CSF3R_ENST00000373103.1_Missense_Mutation_p.R233W|CSF3R_ENST00000331941.5_Missense_Mutation_p.R233W|CSF3R_ENST00000487540.2_5'Flank	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	233	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R233W(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCATGGTCCGCAGCATGGGG	0.627																																																	2	Substitution - Missense(2)	large_intestine(2)						G	TRP/ARG,TRP/ARG,TRP/ARG	1,4363		0,1,2181	11	12	12		697,697,697	-2.4	0.3	1	dbSNP_134	12	0,8546		0,0,4273	no	missense,missense,missense	CSF3R	NM_000760.3,NM_156039.3,NM_172313.2	101,101,101	0,1,6454	AA,AG,GG		0.0,0.0229,0.0077	benign,benign,benign	233/837,233/864,233/784	36938264	1,12909	2182	4273	6455	SO:0001583	missense	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.697C>T	1.37:g.36938264G>A	ENSP00000362198:p.Arg233Trp			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R233W	ENST00000373106.1	37	c.697	CCDS413.1	1	.	.	.	.	.	.	.	.	.	.	G	6.594	0.477964	0.12521	2.29E-4	0.0	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	4.6	-2.38	0.06622	Fibronectin, type III (1);Immunoglobulin-like fold (1);	6.027910	0.01642	N	0.024086	T	0.24890	0.0604	N	0.02802	-0.49	0.09310	N	0.99999	B;B;B;B	0.21147	0.052;0.008;0.01;0.005	B;B;B;B	0.06405	0.001;0.002;0.001;0.002	T	0.09552	-1.0669	10	0.37606	T	0.19	0.3242	2.467	0.04555	0.1744:0.2883:0.3953:0.142	.	233;233;233;233	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	W	233	ENSP00000362198:R233W;ENSP00000362196:R233W;ENSP00000362195:R233W;ENSP00000355406:R233W;ENSP00000332180:R233W;ENSP00000401588:R233W;ENSP00000345013:R233W;ENSP00000397568:R233W	ENSP00000332180:R233W	R	-	1	2	CSF3R	36710851	0.000000	0.05858	0.300000	0.25030	0.032000	0.12392	-0.365000	0.07573	-0.315000	0.08703	-0.345000	0.07892	CGG	CSF3R	-	superfamily_Fibronectin_type3	ENSG00000119535		0.627	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	-	0	65	0	G	NM_156039		36938264	-1	tier1	rs150616658	no_errors	ENST00000373103	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.172	A	A	36938264	G	A	36938264	3	1	155	1	0	0	0	0	1	0	0	0	3946	1086	38	1	2047	1	CSF3R	1	36938264	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	4716455	36938264	212312357	8	39396											
MTF1	4520	genome.wustl.edu	37	chr1	38323168	38323168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcatcctccaaagtgccagGgtcctgctcaataagaacag	12	9	8	12	0	2	1	2	0	0	1	5	1	5	1	4	1	3	1	4	1	4	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:38323168G>T	ENST00000373036.4	-	2	303	c.163C>A	c.(163-165)Cct>Act	p.P55T	MTF1_ENST00000468190.1_5'UTR	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	55					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAGTGCCAGGGTCCTGCTCA	0.483																																																	0													131	114	120					1																	38323168		2203	4300	6503	SO:0001583	missense	0			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.163C>A	1.37:g.38323168G>T	ENSP00000362127:p.Pro55Thr		B2RAK6|Q96CB1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P55T	ENST00000373036.4	37	c.163	CCDS30676.1	1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883809	0.51908	.	.	ENSG00000188786	ENST00000373036	T	0.10573	2.86	5.62	3.76	0.43208	.	0.411157	0.27139	N	0.020753	T	0.07413	0.0187	L	0.29908	0.895	0.35406	D	0.792005	B	0.34103	0.437	B	0.32864	0.154	T	0.32640	-0.9899	10	0.12766	T	0.61	.	10.4869	0.44729	0.1522:0.0:0.8478:0.0	.	55	Q14872	MTF1_HUMAN	T	55	ENSP00000362127:P55T	ENSP00000362127:P55T	P	-	1	0	MTF1	38095755	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.493000	0.60341	0.732000	0.32470	-0.145000	0.13849	CCT	MTF1	-	NULL	ENSG00000188786		0.483	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF1	HGNC	protein_coding	OTTHUMT00000012984.2		0	56	0	G	NM_005955		38323168	-1			no_errors	ENST00000373036	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	38323168	G	T	38323168	3	4	155	1	0	0	0	0	1	0	0	0	9960	1232	43	3	2138	3	MTF1	1	38323168	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1384904	38323168	210927453	9	39397											
RNF11	26994	genome.wustl.edu	37	chr1	51735793	51735793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatcagaaaaaaagatcCgggagtaagttttaattaat	18	11	9	3	1	1	2	1	0	0	2	2	4	2	4	1	2	0	2	1	2	6	4	rs141444156		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:51735793C>T	ENST00000242719.3	+	2	775	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	RNF11_ENST00000494873.1_Intron	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	97					protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		large_intestine(1)	1						AAAAAAGATCCGGGAGTAAGT	0.328																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	42	47	45		289	5.9	1	1	dbSNP_134	45	0,8600		0,0,4300	no	missense	RNF11	NM_014372.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	97/155	51735793	1,13005	2203	4300	6503	SO:0001583	missense	0			AB024703	CCDS556.1	1p32	2013-01-09			ENSG00000123091	ENSG00000123091		"RING-type (C3HC4) zinc fingers"	10056	protein-coding gene	gene with protein product		612598				10673045, 10810093	Standard	NM_014372		Approved	CGI-123, Sid1669p, MGC51169	uc001csi.4	Q9Y3C5	OTTHUMG00000008190	ENST00000242719.3:c.289C>T	1.37:g.51735793C>T	ENSP00000242719:p.Arg97Trp		A8KAI2|Q5T7R8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R97W	ENST00000242719.3	37	c.289	CCDS556.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233701	0.79688	2.27E-4	0.0	ENSG00000123091	ENST00000242719	T	0.19105	2.17	5.91	5.91	0.95273	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.40040	0.1101	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.07635	-1.0762	10	0.72032	D	0.01	-2.5246	14.6057	0.68478	0.2604:0.7396:0.0:0.0	.	97	Q9Y3C5	RNF11_HUMAN	W	97	ENSP00000242719:R97W	ENSP00000242719:R97W	R	+	1	2	RNF11	51508381	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.171000	0.50824	2.804000	0.96469	0.650000	0.86243	CGG	RNF11	-	NULL	ENSG00000123091		0.328	RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF11	HGNC	protein_coding	OTTHUMT00000022419.1	-	0	157	0	C	NM_014372		51735793	1	tier1	rs141444156	no_errors	ENST00000242719	ensembl	human	known	74_37	missense	32.43	75	36	SNP	1.000	T	T	51735793	C	T	51735793	3	4	155	1	0	0	0	0	1	0	0	0	13469	643	23	1	295	1	RNF11	1	51735793	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	13412625	51735793	197514828	10	39398											
USP24	23358	genome.wustl.edu	37	chr1	55622627	55622627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgatcaacctacctgtatCttccaaattttagtgagttc	10	16	5	10	0	3	2	1	2	2	0	5	2	4	2	3	0	2	2	3	0	5	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:55622627C>G	ENST00000294383.6	-	12	1439	c.1440G>C	c.(1438-1440)aaG>aaC	p.K480N	USP24_ENST00000407756.1_Missense_Mutation_p.K368N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	480					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						CTACCTGTATCTTCCAAATTT	0.383																																																	0													160	155	156					1																	55622627		1842	4103	5945	SO:0001583	missense	0			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.1440G>C	1.37:g.55622627C>G	ENSP00000294383:p.Lys480Asn		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.K368N	ENST00000294383.6	37	c.1104	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671230	0.47781	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.77750	-1.12;-1.12	5.92	2.65	0.31530	.	0.134101	0.51477	D	0.000093	T	0.63663	0.2530	L	0.47716	1.5	0.40171	D	0.977176	B	0.26635	0.155	B	0.23018	0.043	T	0.52215	-0.8605	10	0.15066	T	0.55	.	5.4548	0.16584	0.0:0.4745:0.0:0.5255	.	368	B7WPF4	.	N	480;368	ENSP00000294383:K480N;ENSP00000385700:K368N	ENSP00000294383:K480N	K	-	3	2	USP24	55395215	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.069000	0.30641	0.817000	0.34445	0.650000	0.86243	AAG	USP24	-	NULL	ENSG00000162402		0.383	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0	122	0	C			55622627	-1	tier1	-	no_errors	ENST00000407756	ensembl	human	known	74_37	missense	18.07	68	15	SNP	1.000	G	G	55622627	C	G	55622627	3	3	155	1	0	0	0	0	1	0	0	0	17104	912	32	5	6650	5	USP24	1	55622627	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	3886834	55622627	193627994	11	39399											
HOOK1	51361	genome.wustl.edu	37	chr1	60299159	60299159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatccagtggagcttgggaGgttgctccagcttattttag	8	13	13	7	0	0	1	0	0	0	1	2	3	2	3	2	3	3	4	2	3	2	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:60299159G>A	ENST00000371208.3	+	5	613	c.356G>A	c.(355-357)aGg>aAg	p.R119K	HOOK1_ENST00000395561.2_Missense_Mutation_p.R77K|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	119	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)					GAGCTTGGGAGGTTGCTCCAG	0.363																																																	0													93	95	94					1																	60299159		2203	4300	6503	SO:0001583	missense	0			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.356G>A	1.37:g.60299159G>A	ENSP00000360252:p.Arg119Lys		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin	p.R119K	ENST00000371208.3	37	c.356	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197127	0.79015	.	.	ENSG00000134709	ENST00000455990;ENST00000371208;ENST00000395561	T;T;T	0.20200	2.09;2.09;2.09	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	L	0.41906	1.305	0.80722	D	1	B	0.24426	0.103	P	0.48840	0.592	T	0.04693	-1.0933	10	0.02654	T	1	.	19.6951	0.96022	0.0:0.0:1.0:0.0	.	119	Q9UJC3	HOOK1_HUMAN	K	119;119;77	ENSP00000398860:R119K;ENSP00000360252:R119K;ENSP00000378928:R77K	ENSP00000360252:R119K	R	+	2	0	HOOK1	60071747	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.197000	0.89727	2.728000	0.93425	0.585000	0.79938	AGG	HOOK1	-	pfam_Hook-related_fam	ENSG00000134709		0.363	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	-	0	82	0	G	NM_015888		60299159	1	tier1	-	no_errors	ENST00000371208	ensembl	human	known	74_37	missense	32.65	33	16	SNP	1.000	A	A	60299159	G	A	60299159	3	1	155	1	0	0	0	0	1	0	0	0	7309	1000	35	3	374	3	HOOK1	1	60299159	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	4676532	60299159	188951462	12	39400											
NEGR1	257194	genome.wustl.edu	37	chr1	72076804	72076804	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgggggtcacggtgccagaTttaatttcctgaatagtagg	9	11	13	8	2	1	2	1	1	0	1	2	2	2	2	3	4	1	1	3	4	4	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:72076804T>G	ENST00000357731.5	-	5	932	c.693A>C	c.(691-693)aaA>aaC	p.K231N	NEGR1_ENST00000306821.3_Missense_Mutation_p.K103N|NEGR1_ENST00000434200.1_Missense_Mutation_p.K185N	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	231	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CGGTGCCAGATTTAATTTCCT	0.423																																																	0													48	51	50					1																	72076804		2203	4300	6503	SO:0001583	missense	0			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.693A>C	1.37:g.72076804T>G	ENSP00000350364:p.Lys231Asn		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K231N	ENST00000357731.5	37	c.693	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.918041	0.52546	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.69685	-0.42;-0.42;-0.42	5.93	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.051513	0.85682	D	0.000000	T	0.41073	0.1143	L	0.50919	1.6	0.43118	D	0.99483	B;B	0.24576	0.106;0.095	B;B	0.35899	0.213;0.142	T	0.27331	-1.0077	10	0.09338	T	0.73	-15.5507	9.281	0.37729	0.0:0.1472:0.0:0.8528	.	185;231	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	N	231;103;185	ENSP00000350364:K231N;ENSP00000305938:K103N;ENSP00000413294:K185N	ENSP00000305938:K103N	K	-	3	2	NEGR1	71849392	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.284000	0.33249	0.508000	0.28173	0.533000	0.62120	AAA	NEGR1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000172260		0.423	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4	-	0	51	0	T	NM_173808		72076804	-1	tier1	-	no_errors	ENST00000357731	ensembl	human	known	74_37	missense	38.10	26	16	SNP	1.000	G	G	72076804	T	G	72076804	3	3	155	1	0	0	0	0	1	0	0	0	10356	1490	52	4	383	4	NEGR1	1	72076804	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	11777645	72076804	177173817	13	39401											
VANGL1	81839	genome.wustl.edu	37	chr1	116206711	116206711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtccgcattttggactctCgggaccggaattaccagggc	7	9	14	11	3	1	0	0	0	1	0	3	3	2	3	3	5	1	1	3	5	2	3	rs568821247		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:116206711C>T	ENST00000355485.2	+	4	905	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	VANGL1_ENST00000369510.4_Missense_Mutation_p.R210W|VANGL1_ENST00000310260.3_Missense_Mutation_p.R212W|VANGL1_ENST00000369509.1_Missense_Mutation_p.R212W	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	212					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)		p.R212W(1)		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)		TTTGGACTCTCGGGACCGGAA	0.517													C|||	1	0.000199681	0	0	5008	,	,		18907	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	central_nervous_system(1)											194	197	196					1																	116206711		2203	4300	6503	SO:0001583	missense	0			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	ENST00000355485.2:c.634C>T	1.37:g.116206711C>T	ENSP00000347672:p.Arg212Trp		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.R212W	ENST00000355485.2	37	c.634	CCDS883.1	1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614462	0.66672	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.73	3.78	0.43462	.	0.120688	0.64402	D	0.000018	D	0.83783	0.5329	M	0.72894	2.215	0.38207	D	0.940342	D;D	0.65815	0.994;0.995	P;P	0.57283	0.721;0.817	D	0.86224	0.1633	10	0.87932	D	0	2.8345	10.9374	0.47253	0.175:0.7496:0.0:0.0754	.	210;212	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	W	212;210;212;212	ENSP00000347672:R212W;ENSP00000358523:R210W;ENSP00000310800:R212W;ENSP00000358522:R212W	ENSP00000310800:R212W	R	+	1	2	VANGL1	116008234	0.993000	0.37304	0.956000	0.39512	0.954000	0.61252	3.124000	0.50461	1.582000	0.49881	-0.142000	0.14014	CGG	VANGL1	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000173218		0.517	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VANGL1	HGNC	protein_coding	OTTHUMT00000033096.1	-	0	89	0	C			116206711	1	tier1	-	no_errors	ENST00000310260	ensembl	human	known	74_37	missense	17.24	72	15	SNP	0.731	T	T	116206711	C	T	116206711	3	4	155	1	0	0	0	0	1	0	0	0	17168	875	31	1	644	1	VANGL1	1	116206711	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	44129907	116206711	133043910	14	39402											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144911890	144911890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgatacttacctaatgtgGatctgggtatgctgacatcc	9	15	9	8	0	1	2	0	2	1	0	2	3	2	3	2	2	3	2	2	2	4	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:144911890G>A	ENST00000369354.3	-	16	2408	c.2219C>T	c.(2218-2220)tCc>tTc	p.S740F	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S806F|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S877F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S740F|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S903F|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.S527F|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S740F|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S740F|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S903F|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S877F|PDE4DIP_ENST00000524974.1_5'Flank			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	740					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)		ACCTAATGTGGATCTGGGTAT	0.373			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													229	213	218					1																	144911890		2203	4300	6503	SO:0001583	missense	0			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.2219C>T	1.37:g.144911890G>A	ENSP00000358360:p.Ser740Phe		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.S740F	ENST00000369354.3	37	c.2219	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330558	0.41297	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.13307	4.61;4.7;4.7;4.7;4.7;3.7;3.71;2.63;2.63;2.6	5.53	4.61	0.57282	.	.	.	.	.	T	0.11580	0.0282	L	0.29908	0.895	0.38597	D	0.950572	P;P;D;P;D;P	0.64830	0.911;0.933;0.994;0.941;0.994;0.89	B;P;P;P;P;P	0.59825	0.346;0.451;0.864;0.532;0.791;0.569	T	0.01702	-1.1292	9	0.46703	T	0.11	.	9.3591	0.38184	0.095:0.0:0.905:0.0	.	903;527;740;903;806;740	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	F	806;740;740;903;877;877;740;740;903;903;527	ENSP00000327209:S806F;ENSP00000358360:S740F;ENSP00000358363:S740F;ENSP00000435654:S877F;ENSP00000358366:S877F;ENSP00000358357:S740F;ENSP00000358355:S740F;ENSP00000316434:S903F;ENSP00000433392:S903F;ENSP00000436791:S527F	ENSP00000327209:S806F	S	-	2	0	PDE4DIP	143623247	0.984000	0.35163	0.925000	0.36789	0.191000	0.23601	2.890000	0.48609	2.624000	0.88883	0.650000	0.86243	TCC	PDE4DIP	-	NULL	ENSG00000178104		0.373	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0	142	0	G	NM_022359		144911890	-1	tier1	-	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	14.44	77	13	SNP	0.386	A	A	144911890	G	A	144911890	3	1	155	1	0	0	0	0	1	0	0	0	11682	1174	41	3	4947	3	PDE4DIP	1	144911890	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	28705179	144911890	104338731	15	39403											
IVL	3713	genome.wustl.edu	37	chr1	152882956	152882956	+	Missense_Mutation	SNP	A	A	G	1	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	gcagctggagctcccagagcAgcaggaggggcagctggagc	9	3	18	11	0	0	1	0	0	0	1	1	4	1	4	1	5	6	7	1	5	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:152882956A>G	ENST00000368764.3	+	2	747	c.683A>G	c.(682-684)cAg>cGg	p.Q228R	IVL_ENST00000392667.2_Missense_Mutation_p.Q82R			P07476	INVO_HUMAN	involucrin	228	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctcccagagcagcaggagggg	0.687																																																	0													2	2	2					1																	152882956		1234	2870	4104	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.683A>G	1.37:g.152882956A>G	ENSP00000357753:p.Gln228Arg		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q228R	ENST00000368764.3	37	c.683	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	A	7.980	0.751000	0.15778	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11495	3.01;2.77	3.86	2.61	0.31194	.	.	.	.	.	T	0.07503	0.0189	L	0.34521	1.04	0.09310	N	1	D	0.59357	0.985	P	0.58660	0.843	T	0.26916	-1.0089	9	0.38643	T	0.18	.	8.47	0.32980	0.7474:0.2526:0.0:0.0	.	228	P07476	INVO_HUMAN	R	228;82	ENSP00000357753:Q228R;ENSP00000376435:Q82R	ENSP00000357753:Q228R	Q	+	2	0	IVL	151149580	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.127000	0.10547	1.556000	0.49512	0.339000	0.21740	CAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.687	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0	41	0	A	NM_005547		152882956	1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.005	G	G	152882956	A	G	152882956	3	3	155	1	0	0	0	0	1	0	0	0	7956	188	7	4	685	4	IVL	1	152882956	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	7971066	152882956	96367665	16	39404											
NPR1	4881	genome.wustl.edu	37	chr1	153655852	153655852	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactcctgctctcccttagGttgtactgaactacaatggg	8	12	8	13	0	1	1	0	1	1	0	3	1	2	1	3	2	4	3	3	2	5	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:153655852G>A	ENST00000368680.3	+	6	1736	c.1264G>A	c.(1264-1266)Gtt>Att	p.V422I		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	422					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)	TCTCCCTTAGGTTGTACTGAA	0.602																																					Pancreas(141;1349 1870 15144 15830 40702)												0													57	48	51					1																	153655852		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1264-1G>A	1.37:g.153655852G>A			B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.V422I	ENST00000368680.3	37	c.1264	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579517	0.28180	.	.	ENSG00000169418	ENST00000368680	T	0.74421	-0.84	5.29	5.29	0.74685	.	0.338480	0.26532	N	0.023841	T	0.39226	0.1070	N	0.16098	0.37	0.80722	D	1	B	0.19583	0.037	B	0.17722	0.019	T	0.34129	-0.9841	9	.	.	.	.	10.2827	0.43550	0.0904:0.0:0.9096:0.0	.	422	P16066	ANPRA_HUMAN	I	422	ENSP00000357669:V422I	.	V	+	1	0	NPR1	151922476	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.036000	0.49767	2.636000	0.89361	0.655000	0.94253	GTT	NPR1	-	superfamily_Peripla_BP_I	ENSG00000169418		0.602	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	-	0	55	0	G	NM_000906	Missense_Mutation	153655852	1	tier1	-	no_errors	ENST00000368680	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	A	A	153655852	G	A	153655852	5	1	155	1	0	0	0	0	0	0	1	0	10633	1275	44	3	1286	3	NPR1	1	153655852	Splice_Site	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	772896	153655852	95594769	17	39405											
GON4L	54856	genome.wustl.edu	37	chr1	155784178	155784178	+	Missense_Mutation	SNP	T	T	G	0	1	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	atctcagaagactgcctcaaTctggatttctttgccccacg	9	12	7	13	1	4	2	2	0	3	2	5	3	4	3	3	1	2	0	3	1	2	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:155784178T>G	ENST00000368331.1	-	9	1272	c.1224A>C	c.(1222-1224)agA>agC	p.R408S	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.R408S|GON4L_ENST00000361040.5_Missense_Mutation_p.R408S|GON4L_ENST00000271883.5_Missense_Mutation_p.R408S	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	408					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)					ACTGCCTCAATCTGGATTTCT	0.403																																																	0													182	170	174					1																	155784178		2203	4300	6503	SO:0001583	missense	0			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.1224A>C	1.37:g.155784178T>G	ENSP00000357315:p.Arg408Ser		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.R408S	ENST00000368331.1	37	c.1224		1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799866	0.70567	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.12879	2.83;2.83;2.83;2.64	4.56	2.22	0.28083	.	0.118078	0.53938	D	0.000049	T	0.13798	0.0334	L	0.54323	1.7	0.25603	N	0.986574	P;D;D;D;D	0.89917	0.728;0.988;0.998;0.999;1.0	B;P;D;D;D	0.83275	0.23;0.736;0.957;0.991;0.996	T	0.04855	-1.0922	10	0.52906	T	0.07	.	6.3713	0.21483	0.0:0.2941:0.0:0.7058	.	102;408;408;408;408	Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	S	408	ENSP00000396117:R408S;ENSP00000357315:R408S;ENSP00000271883:R408S;ENSP00000354322:R408S	ENSP00000271883:R408S	R	-	3	2	GON4L	154050802	0.575000	0.26692	0.998000	0.56505	0.999000	0.98932	0.316000	0.19469	0.367000	0.24454	0.533000	0.62120	AGA	GON4L	-	NULL	ENSG00000116580		0.403	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0	71	0	T	NM_032292		155784178	-1	tier1	-	no_errors	ENST00000368331	ensembl	human	known	74_37	missense	30.00	28	12	SNP	0.996	G	G	155784178	T	G	155784178	3	3	155	1	0	0	0	0	1	0	0	0	6598	1432	50	4	5711	4	GON4L	1	155784178	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	2128326	155784178	93466443	18	39406											
CD1A	909	genome.wustl.edu	37	chr1	158227471	158227471	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatctctgttctcatccagTttctgttaagacacaccatg	9	15	5	12	0	3	1	1	0	3	1	6	1	4	1	2	0	0	3	2	0	2	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:158227471T>C	ENST00000289429.5	+	6	1508	c.975T>C	c.(973-975)tgT>tgC	p.C325C		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	325					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)	TCTCATCCAGTTTCTGTTAAG	0.512																																																	0													190	165	174					1																	158227471		2203	4300	6503	SO:0001630	splice_region_variant	0			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.975-1T>C	1.37:g.158227471T>C			D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.C325	ENST00000289429.5	37	c.975	CCDS1174.1	1																																																																																			CD1A	-	NULL	ENSG00000158477		0.512	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	-	0	56	0	T	NM_001763	Silent	158227471	1	tier1	-	no_errors	ENST00000289429	ensembl	human	known	74_37	silent	19.61	41	10	SNP	0.000	C	C	158227471	T	C	158227471	5	2	155	1	0	0	0	0	0	0	1	0	2981	1739	60	4	997	4	CD1A	1	158227471	Splice_Site	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	2443293	158227471	91023150	19	39407											
OR10K1	391109	genome.wustl.edu	37	chr1	158435617	158435617	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgacctgctgtcccagaAgaagaccatttctttcctgg	8	12	10	11	0	1	4	0	1	1	3	3	4	3	4	4	2	1	2	4	2	2	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:158435617A>C	ENST00000289451.2	+	1	346	c.266A>C	c.(265-267)aAg>aCg	p.K89T		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	89						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)					CTGTCCCAGAAGAAGACCATT	0.488																																																	0													188	184	185					1																	158435617		2203	4300	6503	SO:0001583	missense	0			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.266A>C	1.37:g.158435617A>C	ENSP00000289451:p.Lys89Thr		Q6IFS2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K89T	ENST00000289451.2	37	c.266	CCDS30897.1	1	.	.	.	.	.	.	.	.	.	.	a	9.515	1.106703	0.20714	.	.	ENSG00000173285	ENST00000289451	T	0.03094	4.05	4.5	0.829	0.18847	GPCR, rhodopsin-like superfamily (1);	0.151222	0.30620	N	0.009238	T	0.00784	0.0026	N	0.10664	0.02	0.20638	N	0.99988	P	0.41041	0.736	B	0.41332	0.354	T	0.52411	-0.8579	10	0.37606	T	0.19	.	8.1015	0.30859	0.7386:0.0:0.2614:0.0	.	89	Q8NGX5	O10K1_HUMAN	T	89	ENSP00000289451:K89T	ENSP00000289451:K89T	K	+	2	0	OR10K1	156702241	0.000000	0.05858	0.998000	0.56505	0.738000	0.42128	0.087000	0.14958	0.268000	0.21939	0.455000	0.32223	AAG	OR10K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000173285		0.488	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	HGNC	protein_coding	OTTHUMT00000046367.1	-	0	71	0	A			158435617	1	tier1	-	no_errors	ENST00000289451	ensembl	human	known	74_37	missense	17.39	38	8	SNP	0.737	C	C	158435617	A	C	158435617	3	2	155	1	0	0	0	0	1	0	0	0	10952	72	3	4	268	4	OR10K1	1	158435617	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	208146	158435617	90815004	20	39408											
BAT2L2	23215	genome.wustl.edu	37	chr1	171505351	171505351	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccaaggtggctcatgatgCagtcctacatggatcctcga	10	10	10	11	1	1	1	1	1	0	0	5	3	4	2	3	3	2	2	3	3	2	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:171505351C>T	ENST00000338920.4	+	14	2458	c.2221C>T	c.(2221-2223)Cag>Tag	p.Q741*	PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.Q743*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.Q741*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.Q743*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	741	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GCTCATGATGCAGTCCTACAT	0.458																																																	0													141	111	121					1																	171505351		2203	4300	6503	SO:0001587	stop_gained	0			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.2221C>T	1.37:g.171505351C>T	ENSP00000343629:p.Gln741*		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	pfam_BAT2_N	p.Q743*	ENST00000338920.4	37	c.2227	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	C	43	9.842982	0.99277	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	.	.	.	5.81	5.81	0.92471	.	0.000000	0.43260	D	0.000581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	.	.	.	X	743;742;741;743;741;498;500	.	ENSP00000343629:Q741X	Q	+	1	0	PRRC2C	169771975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.190000	0.77755	2.736000	0.93811	0.655000	0.94253	CAG	PRRC2C	-	NULL	ENSG00000117523		0.458	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4		0	69	0	C	NM_015172		171505351	1			no_errors	ENST00000392078	ensembl	human	known	74_37	nonsense	6.12	46	3	SNP	1.000	T	T	171505351	C	T	171505351	4	4	155	1	0	0	0	0	0	1	0	0	1322	711	25	3	2271	3	BAT2L2	1	171505351	Nonsense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	13069734	171505351	77745270	21	39409											
HMCN1	83872	genome.wustl.edu	37	chr1	186081978	186081978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgaatcctatctggagggaGatacttgcaaatcaacaatg	14	9	10	8	1	2	1	1	0	1	1	3	4	3	2	1	2	3	1	1	2	6	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:186081978G>A	ENST00000271588.4	+	72	11253	c.11024G>A	c.(11023-11025)aGa>aAa	p.R3675K	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3675K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3675	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						TCTGGAGGGAGATACTTGCAA	0.393																																																	0													132	125	127					1																	186081978		2203	4300	6503	SO:0001583	missense	0			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.11024G>A	1.37:g.186081978G>A	ENSP00000271588:p.Arg3675Lys		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R3675K	ENST00000271588.4	37	c.11024	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763062	0.89932	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66099	-0.19;-0.19	4.91	4.91	0.64330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098616	0.64402	D	0.000001	T	0.66396	0.2785	L	0.41415	1.275	0.45118	D	0.998137	D	0.60575	0.988	D	0.74023	0.982	T	0.59731	-0.7399	10	0.09590	T	0.72	.	11.9092	0.52729	0.0806:0.0:0.9194:0.0	.	3675	Q96RW7	HMCN1_HUMAN	K	3675	ENSP00000271588:R3675K;ENSP00000356462:R3675K	ENSP00000271588:R3675K	R	+	2	0	HMCN1	184348601	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.797000	0.85911	2.416000	0.81992	0.655000	0.94253	AGA	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143341		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	69	0	G	NM_031935		186081978	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	29.41	36	15	SNP	1.000	A	A	186081978	G	A	186081978	3	1	155	1	0	0	0	0	1	0	0	0	7247	942	33	3	11310	3	HMCN1	1	186081978	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	14576627	186081978	63168643	22	39410											
PLXNA2	5362	genome.wustl.edu	37	chr1	208390427	208390427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtcatccttgcagagccgcaCgatgcgtgaggtgtagaaga	10	8	14	9	3	1	4	1	1	0	3	2	5	2	4	2	1	3	3	2	1	2	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:208390427C>T	ENST00000367033.3	-	2	1598	c.841G>A	c.(841-843)Gtg>Atg	p.V281M		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	281	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)		CAGAGCCGCACGATGCGTGAG	0.612																																																	0													99	97	97					1																	208390427		2203	4300	6503	SO:0001583	missense	0			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.841G>A	1.37:g.208390427C>T	ENSP00000356000:p.Val281Met		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.V281M	ENST00000367033.3	37	c.841	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714544	0.89112	.	.	ENSG00000076356	ENST00000367033	T	0.12879	2.64	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.073718	0.53938	D	0.000059	T	0.46927	0.1418	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	T	0.50499	-0.8821	10	0.87932	D	0	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	335;281	O75051-2;O75051	.;PLXA2_HUMAN	M	281	ENSP00000356000:V281M	ENSP00000356000:V281M	V	-	1	0	PLXNA2	206457050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.533000	0.81994	2.765000	0.95021	0.655000	0.94253	GTG	PLXNA2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000076356		0.612	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6		0	30	0	C	NM_025179		208390427	-1			no_errors	ENST00000367033	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	208390427	C	T	208390427	3	4	155	1	0	0	0	0	1	0	0	0	12159	536	19	1	4967	1	PLXNA2	1	208390427	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	22308449	208390427	40860194	23	39411											
KIAA1383	54627	genome.wustl.edu	37	chr1	232942340	232942340	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aggagcaactaatcaaacatGtcaaactgaacaaaatcgaa	21	6	6	8	1	2	1	2	1	0	0	3	3	2	2	0	1	5	1	0	1	8	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:232942340G>T	ENST00000418460.1	+	1	1698	c.1571G>T	c.(1570-1572)tGt>tTt	p.C524F		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	382					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										AATCAAACATGTCAAACTGAA	0.373																																																	0													83	77	79					1																	232942340		1904	4127	6031	SO:0001583	missense	0			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1571G>T	1.37:g.232942340G>T	ENSP00000403208:p.Cys524Phe		A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	NULL	p.C524F	ENST00000418460.1	37	c.1571	CCDS44334.1	1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432924	0.25813	.	.	ENSG00000212916	ENST00000418460	.	.	.	4.58	-0.00759	0.14008	.	6.059670	0.00815	U	0.001539	T	0.27419	0.0673	N	0.22421	0.69	0.09310	N	1	P	0.41080	0.737	B	0.38458	0.274	T	0.29305	-1.0016	9	0.46703	T	0.11	2.3171	8.2753	0.31868	0.309:0.0:0.691:0.0	.	382	Q9P2G4	K1383_HUMAN	F	524	.	ENSP00000403208:C524F	C	+	2	0	KIAA1383	231008963	0.000000	0.05858	0.000000	0.03702	0.335000	0.28730	0.448000	0.21726	0.006000	0.14734	0.655000	0.94253	TGT	MAP10	-	NULL	ENSG00000212916		0.373	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP10	HGNC	protein_coding	OTTHUMT00000092317.3		0	48	0	G	NM_019090		232942340	1			no_errors	ENST00000418460	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.000	T	T	232942340	G	T	232942340	3	4	155	1	0	0	0	0	1	0	0	0	8255	1377	48	3	1573	3	KIAA1383	1	232942340	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	24551913	232942340	16308281	24	39412											
PCNXL2	80003	genome.wustl.edu	37	chr1	233393833	233393833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagttgactggatgccGtcatcttggaagtattaatg	10	14	10	7	1	3	1	2	1	1	0	3	3	3	3	1	2	1	2	1	2	3	5	rs201633704		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:233393833G>A	ENST00000258229.9	-	5	2009	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M	PCNXL2_ENST00000430153.1_De_novo_Start_InFrame	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	592						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTGGATGCCGTCATCTTGGA	0.448													G|||	1	0.000199681	8e-04	0	5008	,	,		20263	0		0	False		,,,				2504	0																0								G	MET/THR	6,3838		0,6,1916	91	86	87		1775	-3.7	0	1		87	0,8272		0,0,4136	yes	missense	PCNXL2	NM_014801.3	81	0,6,6052	AA,AG,GG		0.0,0.1561,0.0495	benign	592/2138	233393833	6,12110	1922	4136	6058	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1775C>T	1.37:g.233393833G>A	ENSP00000258229:p.Thr592Met		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.T592M	ENST00000258229.9	37	c.1775	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	9.809	1.182664	0.21870	0.001561	0.0	ENSG00000135749	ENST00000258229	T	0.08282	3.11	5.7	-3.72	0.04411	.	.	.	.	.	T	0.03263	0.0095	N	0.03608	-0.345	0.09310	N	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.42632	-0.9440	9	0.45353	T	0.12	.	7.4751	0.27371	0.1917:0.1116:0.576:0.1207	.	592	A6NKB5	PCX2_HUMAN	M	592	ENSP00000258229:T592M	ENSP00000258229:T592M	T	-	2	0	PCNXL2	231460456	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	0.213000	0.17521	-0.727000	0.04888	-0.302000	0.09304	ACG	PCNXL2	-	NULL	ENSG00000135749		0.448	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	-	0	76	0	G	NM_014801		233393833	-1	tier1	rs201633704	no_errors	ENST00000258229	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.000	A	A	233393833	G	A	233393833	3	1	155	1	0	0	0	0	1	0	0	0	11631	1145	40	1	4758	1	PCNXL2	1	233393833	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	451493	233393833	15856788	25	39413											
PLD5	200150	genome.wustl.edu	37	chr1	242271125	242271125	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcttatttttgcatccaAgtctggccagtaagtcctgc	7	16	7	11	0	2	0	0	0	2	0	5	0	4	0	3	1	2	2	3	1	3	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:242271125A>G	ENST00000536534.2	-	8	1328	c.1087T>C	c.(1087-1089)Ttg>Ctg	p.L363L	PLD5_ENST00000442594.2_Silent_p.L271L|PLD5_ENST00000427495.1_Silent_p.L301L			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	363						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTTGCATCCAAGTCTGGCCAG	0.343																																																	0													69	70	70					1																	242271125		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1087T>C	1.37:g.242271125A>G			A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	smart_PLipase_D/transphosphatidylase	p.L363	ENST00000536534.2	37	c.1087	CCDS1621.2	1																																																																																			PLD5	-	NULL	ENSG00000180287		0.343	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	-	0	89	0	A	NM_152666		242271125	-1	tier1	-	no_errors	ENST00000536534	ensembl	human	known	74_37	silent	32.05	52	25	SNP	0.998	G	G	242271125	A	G	242271125	2	3	155	1	0	0	0	0	0	0	0	1	12088	69	3	4		4	PLD5	1	242271125	Silent	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	8877292	242271125	6979496	26	39414											
CEP170	9859	genome.wustl.edu	37	chr1	243349275	243349275	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaacttcttaataatgcagTttgtaggaagggtattgaca	13	14	10	4	0	1	2	0	2	1	0	1	3	1	3	0	2	2	4	0	2	6	7			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:243349275T>G	ENST00000366542.1	-	10	1423	c.1372A>C	c.(1372-1374)Act>Cct	p.T458P	CEP170_ENST00000366543.1_Intron|CEP170_ENST00000366544.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	458						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)			AATAATGCAGTTTGTAGGAAG	0.443																																																	0													80	74	76					1																	243349275		1858	4097	5955	SO:0001583	missense	0			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.1372A>C	1.37:g.243349275T>G	ENSP00000355500:p.Thr458Pro		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.T458P	ENST00000366542.1	37	c.1372	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.27|15.27	2.783349|2.783349	0.49891|0.49891	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000424081	.|T	.|0.54675	.|0.56	5.3|5.3	1.58|1.58	0.23477|0.23477	.|.	.|0.296611	.|0.35970	.|N	.|0.002878	T|T	0.35508|0.35508	0.0934|0.0934	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P	.|0.39326	.|0.668	.|B	.|0.38712	.|0.28	T|T	0.04128|0.04128	-1.0975|-1.0975	5|10	.|0.27785	.|T	.|0.31	-4.6937|-4.6937	6.1834|6.1834	0.20484|0.20484	0.0:0.2154:0.1273:0.6573|0.0:0.2154:0.1273:0.6573	.|.	.|458	.|Q5SW79	.|CE170_HUMAN	N|P	421|458;356	.|ENSP00000355500:T458P	.|ENSP00000355500:T458P	K|T	-|-	3|1	2|0	CEP170|CEP170	241415898|241415898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.656000|1.656000	0.37355|0.37355	0.313000|0.313000	0.23062|0.23062	0.477000|0.477000	0.44152|0.44152	AAA|ACT	CEP170	-	NULL	ENSG00000143702		0.443	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	-	0	208	0	T	NM_014812		243349275	-1	tier1	-	no_errors	ENST00000366542	ensembl	human	known	74_37	missense	17.69	121	26	SNP	0.999	G	G	243349275	T	G	243349275	3	3	155	1	0	0	0	0	1	0	0	0	3257	1725	60	4	3456	4	CEP170	1	243349275	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	1078150	243349275	5901346	27	39415											
OR2C3	81472	genome.wustl.edu	37	chr1	247694864	247694864	+	Missense_Mutation	SNP	A	A	G	1	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	ggagtctctaaatttgcgccAgcttgcctgcagagccacag	9	9	11	12	1	1	1	0	0	1	1	2	2	1	2	3	1	5	2	3	1	2	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr1:247694864A>G	ENST00000366487.3	-	2	1311	c.950T>C	c.(949-951)cTg>cCg	p.L317P	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	317						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)			AATTTGCGCCAGCTTGCCTGC	0.517																																																	0													57	53	55					1																	247694864		2203	4300	6503	SO:0001583	missense	0			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.950T>C	1.37:g.247694864A>G	ENSP00000355443:p.Leu317Pro		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L317P	ENST00000366487.3	37	c.950	CCDS1634.2	1	.	.	.	.	.	.	.	.	.	.	A	8.104	0.777374	0.16120	.	.	ENSG00000196242	ENST00000366487	T	0.00490	7.03	3.71	-4.59	0.03400	.	.	.	.	.	T	0.00210	0.0006	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.25813	-1.0121	9	0.34782	T	0.22	.	4.0107	0.09621	0.2949:0.1858:0.0:0.5194	.	317	Q8N628	OR2C3_HUMAN	P	317	ENSP00000355443:L317P	ENSP00000355443:L317P	L	-	2	0	OR2C3	245761487	0.105000	0.21958	0.000000	0.03702	0.001000	0.01503	-0.769000	0.04710	-0.936000	0.03723	-0.144000	0.13903	CTG	OR2C3	-	NULL	ENSG00000196242		0.517	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	HGNC	protein_coding	OTTHUMT00000097626.2	-	0	23	0	A	NM_198074		247694864	-1	tier1	-	no_errors	ENST00000366487	ensembl	human	known	74_37	missense	25.00	21	7	SNP	0.000	G	G	247694864	A	G	247694864	3	3	155	1	0	0	0	0	1	0	0	0	11032	188	7	4	16	4	OR2C3	1	247694864	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	4345589	247694864	1555757	28	39416											
C2orf18	54978	genome.wustl.edu	37	chr2	27001275	27001275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctacaatgggctacacCgtccgctgctgggccgcctg	5	8	11	17	3	1	0	0	0	1	0	2	0	2	0	5	2	3	3	5	2	3	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:27001275C>T	ENST00000344420.5	+	6	1074	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C	CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.R255C	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	338					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)											TGGGCTACACCGTCCGCTGCT	0.642																																																	0													70	68	69					2																	27001275		2203	4300	6503	SO:0001583	missense	0			AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"ANT2-binding protein", "transport and golgi organization 9 homolog (Drosophila)"		"chromosome 2 open reading frame 18"	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.1012C>T	2.37:g.27001275C>T	ENSP00000345528:p.Arg338Cys		D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_UAA,pirsf_UCP036436	p.R338C	ENST00000344420.5	37	c.1012	CCDS1728.1	2	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020268	0.54576	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	.	.	.	5.72	4.79	0.61399	.	0.231174	0.41097	D	0.000956	T	0.50990	0.1648	M	0.61703	1.905	0.80722	D	1	D;D;D	0.67145	0.975;0.996;0.975	B;B;B	0.43623	0.333;0.425;0.333	T	0.57382	-0.7821	9	0.56958	D	0.05	-8.3975	12.3555	0.55174	0.285:0.715:0.0:0.0	.	191;255;338	E7ET27;B4DLH2;Q8N357	.;.;CB018_HUMAN	C	338;255	.	ENSP00000345528:R338C	R	+	1	0	C2orf18	26854779	0.996000	0.38824	0.985000	0.45067	0.738000	0.42128	1.025000	0.30090	2.706000	0.92434	0.561000	0.74099	CGT	SLC35F6	-	pirsf_UCP036436	ENSG00000213699		0.642	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F6	HGNC	protein_coding	OTTHUMT00000250187.2		0	27	0	C	NM_017877		27001275	1			no_errors	ENST00000344420	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.992	T	T	27001275	C	T	27001275	3	4	155	1	0	0	0	0	1	0	0	0	2165	652	23	1	1034	1	C2orf18	2	27001275	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09		27001275	216198098	29	39417											
GALNT14	79623	genome.wustl.edu	37	chr2	31189139	31189139	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgatgctagtgggtggaAggtccgtgcaatacaccagc	10	9	14	8	1	0	2	0	2	0	0	1	3	1	3	2	3	4	2	2	3	4	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:31189139A>C	ENST00000349752.5	-	3	968	c.329T>G	c.(328-330)cTt>cGt	p.L110R	GALNT14_ENST00000324589.5_Missense_Mutation_p.L115R|GALNT14_ENST00000406653.1_Missense_Mutation_p.L90R|GALNT14_ENST00000356174.3_Intron|GALNT14_ENST00000420311.2_Missense_Mutation_p.L75R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	110	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)					AGTGGGTGGAAGGTCCGTGCA	0.577																																																	0													266	207	227					2																	31189139		2203	4300	6503	SO:0001583	missense	0			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.329T>G	2.37:g.31189139A>C	ENSP00000288988:p.Leu110Arg		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L110R	ENST00000349752.5	37	c.329	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	a	22.2	4.252075	0.80135	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000420311	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.85	4.85	0.62838	.	0.134645	0.51477	D	0.000094	T	0.78451	0.4285	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	0.97110	1.0;1.0;1.0;1.0;0.999	T	0.82667	-0.0344	10	0.87932	D	0	.	12.2267	0.54463	1.0:0.0:0.0:0.0	.	75;75;115;110;90	F5H263;B7Z5C5;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	R	110;115;90;75	ENSP00000288988:L110R;ENSP00000314500:L115R;ENSP00000385435:L90R;ENSP00000415514:L75R	ENSP00000314500:L115R	L	-	2	0	GALNT14	31042643	1.000000	0.71417	0.485000	0.27403	0.833000	0.47200	7.985000	0.88162	1.814000	0.52955	0.393000	0.25936	CTT	GALNT14	-	NULL	ENSG00000158089		0.577	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	-	0	57	0	A	NM_024572		31189139	-1	tier1	-	no_errors	ENST00000349752	ensembl	human	known	74_37	missense	54.35	21	25	SNP	0.995	C	C	31189139	A	C	31189139	3	2	155	1	0	0	0	0	1	0	0	0	6237	72	3	4	1381	4	GALNT14	2	31189139	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	4187864	31189139	212010234	30	39418											
HEATR5B	54497	genome.wustl.edu	37	chr2	37306297	37306297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaggccgcagtgtcatcttTatttctgataatgtcattgc	8	16	9	8	1	4	1	2	1	2	0	4	1	4	1	1	1	1	2	1	1	3	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:37306297T>C	ENST00000233099.5	-	3	399	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	HEATR5B_ENST00000354531.2_Missense_Mutation_p.K102E	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	102						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)				GTGTCATCTTTATTTCTGATA	0.343																																																	0													59	55	56					2																	37306297		2203	4299	6502	SO:0001583	missense	0			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.304A>G	2.37:g.37306297T>C	ENSP00000233099:p.Lys102Glu		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K102E	ENST00000233099.5	37	c.304	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	T	29.0	4.968400	0.92855	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.63744	-0.06;-0.06	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80859	0.4704	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.82975	-0.0190	10	0.56958	D	0.05	-23.6682	16.2879	0.82732	0.0:0.0:0.0:1.0	.	102	Q9P2D3	HTR5B_HUMAN	E	102	ENSP00000233099:K102E;ENSP00000346531:K102E	ENSP00000233099:K102E	K	-	1	0	HEATR5B	37159801	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.969000	0.87988	2.242000	0.73789	0.533000	0.62120	AAA	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.343	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	-	0	96	0	T	NM_019024		37306297	-1	tier1	-	no_errors	ENST00000233099	ensembl	human	known	74_37	missense	28.57	50	20	SNP	1.000	C	C	37306297	T	C	37306297	3	2	155	1	0	0	0	0	1	0	0	0	7059	1763	61	4	6047	4	HEATR5B	2	37306297	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	6117158	37306297	205893076	31	39419											
REG3G	130120	genome.wustl.edu	37	chr2	79253844	79253844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttccaccccaggtgaaGaaacccagaaggaactgccc	12	7	8	14	0	1	3	0	1	1	2	2	4	2	4	5	2	3	0	5	2	4	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:79253844G>C	ENST00000272324.5	+	3	266	c.82G>C	c.(82-84)Gaa>Caa	p.E28Q	REG3G_ENST00000409471.1_Missense_Mutation_p.E28Q|REG3G_ENST00000393897.2_Missense_Mutation_p.E28Q	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	28					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.E28*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAGGTGAAGAAACCCAGAA	0.537																																																	1	Substitution - Nonsense(1)	lung(1)											64	63	63					2																	79253844		2203	4300	6503	SO:0001583	missense	0			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.82G>C	2.37:g.79253844G>C	ENSP00000272324:p.Glu28Gln		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E28Q	ENST00000272324.5	37	c.82	CCDS1962.1	2	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256360	0.22965	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.17691	4.22;4.22;2.26	5.05	3.25	0.37280	.	0.251594	0.28499	N	0.015132	T	0.12008	0.0292	L	0.41961	1.31	0.18873	N	0.999985	B;B	0.31730	0.282;0.337	B;B	0.28784	0.094;0.047	T	0.22138	-1.0225	10	0.21014	T	0.42	.	7.1903	0.25822	0.0906:0.1713:0.7381:0.0	.	28;28	Q3SYE6;Q6UW15	.;REG3G_HUMAN	Q	28	ENSP00000377475:E28Q;ENSP00000272324:E28Q;ENSP00000387105:E28Q	ENSP00000272324:E28Q	E	+	1	0	REG3G	79107352	0.543000	0.26434	0.698000	0.30274	0.022000	0.10575	1.777000	0.38604	0.831000	0.34780	0.655000	0.94253	GAA	REG3G	-	NULL	ENSG00000143954		0.537	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3G	HGNC	protein_coding	OTTHUMT00000328247.1	-	0	70	0	G	NM_198448		79253844	1	tier1	-	no_errors	ENST00000272324	ensembl	human	known	74_37	missense	22.22	55	16	SNP	0.557	C	C	79253844	G	C	79253844	3	2	155	1	0	0	0	0	1	0	0	0	13258	943	33	5	88	5	REG3G	2	79253844	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	41947547	79253844	163945529	32	39420											
DNAH6	1768	genome.wustl.edu	37	chr2	84931260	84931260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaacccaagcaatagctGatgatgctcaaagagatctt	17	8	8	8	0	2	4	1	2	1	2	2	5	2	4	1	0	4	3	1	0	6	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:84931260G>C	ENST00000237449.6	+	50	8307	c.8299G>C	c.(8299-8301)Gat>Cat	p.D2767H	DNAH6_ENST00000389394.3_Missense_Mutation_p.D2767H			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2767	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(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						AGCAATAGCTGATGATGCTCA	0.438																																																	0													173	148	156					2																	84931260		692	1591	2283	SO:0001583	missense	0			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.8299G>C	2.37:g.84931260G>C	ENSP00000237449:p.Asp2767His		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D2767H	ENST00000237449.6	37	c.8299	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931533	0.73442	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.74421	-0.84;-0.84	5.25	5.25	0.73442	Dynein heavy chain, coiled coil stalk (1);	.	.	.	.	D	0.89280	0.6670	M	0.92459	3.31	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.91763	0.5421	9	0.72032	D	0.01	.	17.6211	0.88082	0.0:0.0:1.0:0.0	.	2767	Q9C0G6	DYH6_HUMAN	H	2767	ENSP00000374045:D2767H;ENSP00000237449:D2767H	ENSP00000237449:D2767H	D	+	1	0	DNAH6	84784771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.103000	0.64578	2.449000	0.82847	0.563000	0.77884	GAT	DNAH6	-	superfamily_P-loop_NTPase	ENSG00000115423		0.438	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2		0	46	0	G	NM_001370		84931260	1			no_errors	ENST00000237449	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	C	C	84931260	G	C	84931260	3	2	155	1	0	0	0	0	1	0	0	0	4619	1290	45	5	8497	5	DNAH6	2	84931260	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	5677416	84931260	158268113	33	39421											
YSK4	80122	genome.wustl.edu	37	chr2	135743599	135743599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgggaaattgaatttgtgCcacttaaggtttttccaaac	11	15	8	7	0	0	1	0	1	0	0	1	2	1	2	2	2	2	1	2	2	4	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:135743599C>T	ENST00000375845.3	-	7	2873	c.2843G>A	c.(2842-2844)gGc>gAc	p.G948D	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.G965D|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G835D|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	948							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGAATTTGTGCCACTTAAGGT	0.323																																																	0													57	58	58					2																	135743599		2203	4296	6499	SO:0001583	missense	0			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.2843G>A	2.37:g.135743599C>T	ENSP00000365005:p.Gly948Asp		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G948D	ENST00000375845.3	37	c.2843	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.473402	0.00167	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.70282	-0.31;-0.31;2.07;-0.47	4.16	-1.85	0.07784	.	1.322900	0.05247	N	0.513342	T	0.44138	0.1279	N	0.08118	0	0.19300	N	0.999979	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.17899	-1.0354	10	0.33141	T	0.24	.	0.9364	0.01346	0.3774:0.1046:0.2854:0.2325	.	835;965;948	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	D	948;835;965;338	ENSP00000365005:G948D;ENSP00000351140:G835D;ENSP00000376647:G965D;ENSP00000392827:G338D	ENSP00000351140:G835D	G	-	2	0	YSK4	135460069	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.531000	0.06171	-0.103000	0.12175	-0.391000	0.06502	GGC	MAP3K19	-	NULL	ENSG00000176601		0.323	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1		0	43	0	C	NM_025052		135743599	-1			no_errors	ENST00000375845	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.000	T	T	135743599	C	T	135743599	3	4	155	1	0	0	0	0	1	0	0	0	17544	739	26	3	1159	3	YSK4	2	135743599	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	50812339	135743599	107455774	34	39422											
NEB	4703	genome.wustl.edu	37	chr2	152528931	152528931	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgctcaagactcatggcGtcaggtaggtatgtgtaatg	10	12	13	6	1	3	1	3	0	0	1	3	1	3	1	0	3	1	5	0	3	5	4	rs550832252		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:152528931G>A	ENST00000172853.10	-	37	4398	c.4251C>T	c.(4249-4251)gaC>gaT	p.D1417D	NEB_ENST00000603639.1_Silent_p.D1417D|NEB_ENST00000427231.2_Silent_p.D1417D|NEB_ENST00000397345.3_Silent_p.D1417D|NEB_ENST00000604864.1_Silent_p.D1417D|NEB_ENST00000409198.1_Silent_p.D1417D			P20929	NEBU_HUMAN	nebulin	1417					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)		GACTCATGGCGTCAGGTAGGT	0.443													g|||	1	0.000199681	0	0	5008	,	,		22284	0		0.001	False		,,,				2504	0																0													171	159	163					2																	152528931		2045	4199	6244	SO:0001819	synonymous_variant	0			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.4251C>T	2.37:g.152528931G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.D1417	ENST00000172853.10	37	c.4251		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.443	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	64	0	G	NM_004543		152528931	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.021	A	A	152528931	G	A	152528931	2	1	155	1	0	0	0	0	0	0	0	1	10341	1136	40	1		1	NEB	2	152528931	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	16785332	152528931	90670442	35	39423											
SCN3A	6328	genome.wustl.edu	37	chr2	165953850	165953850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cttgcttgccaagagcctgaCagtcactcaaattgttaaca	12	11	7	11	0	2	2	2	1	0	1	2	2	2	2	2	0	4	2	2	0	3	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:165953850C>A	ENST00000360093.3	-	23	4642	c.4151G>T	c.(4150-4152)tGt>tTt	p.C1384F	SCN3A_ENST00000409101.3_Missense_Mutation_p.C1335F|SCN3A_ENST00000283254.7_Missense_Mutation_p.C1384F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1384					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)	AAGAGCCTGACAGTCACTCAA	0.428																																																	0													130	111	118					2																	165953850		2203	4300	6503	SO:0001583	missense	0			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.4151G>T	2.37:g.165953850C>A	ENSP00000353206:p.Cys1384Phe		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.C1384F	ENST00000360093.3	37	c.4151		2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316602	0.81469	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.97480	-4.4;-4.4;-4.35;-4.08	5.72	5.72	0.89469	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99296	0.9754	H	0.99130	4.44	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.997;0.997;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.994;0.994;1.0	D	0.98440	1.0586	10	0.87932	D	0	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	1384;1335;1335;1335;1384	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	F	1384;1384;1335;1335	ENSP00000353206:C1384F;ENSP00000283254:C1384F;ENSP00000386726:C1335F;ENSP00000403348:C1335F	ENSP00000283254:C1384F	C	-	2	0	SCN3A	165662096	1.000000	0.71417	0.982000	0.44146	0.553000	0.35397	7.776000	0.85560	2.865000	0.98341	0.655000	0.94253	TGT	SCN3A	-	pfam_Ion_trans_dom	ENSG00000153253		0.428	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		-	0	80	0	C	NM_006922		165953850	-1	tier1	-	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	165953850	C	A	165953850	3	1	155	1	0	0	0	0	1	0	0	0	13963	478	17	3	1875	3	SCN3A	2	165953850	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	13424919	165953850	77245523	36	39424											
SCN1A	6323	genome.wustl.edu	37	chr2	166850801	166850801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcgtgacaaaatggtagtCacatattcactctggtcatc	12	12	8	9	1	4	1	3	1	1	0	5	1	4	1	0	2	1	1	0	2	4	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:166850801C>T	ENST00000303395.4	-	25	4706	c.4707G>A	c.(4705-4707)gtG>gtA	p.V1569V	SCN1A_ENST00000409050.1_Silent_p.V1541V|SCN1A_ENST00000375405.3_Silent_p.V1558V|SCN1A_ENST00000423058.2_Silent_p.V1569V|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1569					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)	AAATGGTAGTCACATATTCAC	0.383																																																	0													153	123	133					2																	166850801		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4707G>A	2.37:g.166850801C>T			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.V1569	ENST00000303395.4	37	c.4707	CCDS54413.1	2																																																																																			SCN1A	-	NULL	ENSG00000144285		0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0	119	0	C	NM_006920		166850801	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	silent	30.91	38	17	SNP	1.000	T	T	166850801	C	T	166850801	2	4	155	1	0	0	0	0	0	0	0	1	13959	813	29	3		3	SCN1A	2	166850801	Silent	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	896951	166850801	76348572	37	39425											
TTN	7273	genome.wustl.edu	37	chr2	179419249	179419249	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatatttgttcacggctcGgacccggaagatgtattcat	9	13	9	10	3	2	1	2	0	0	1	4	3	3	3	2	3	0	3	2	3	3	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:179419249G>A	ENST00000591111.1	-	282	84126	c.83902C>T	c.(83902-83904)Cga>Tga	p.R27968*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R27041*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R20669*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20544*|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R29609*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R20736*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27968	Fibronectin type-III 103. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACGGCTCGGACCCGGAAG	0.433																																																	0													39	40	40					2																	179419249		1877	4104	5981	SO:0001587	stop_gained	0			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.83902C>T	2.37:g.179419249G>A	ENSP00000465570:p.Arg27968*		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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R27041*	ENST00000591111.1	37	c.81121		2	.	.	.	.	.	.	.	.	.	.	G	66	94.523692	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	.	.	.	X	27041;20544;20736;20669;20541	.	ENSP00000340554:R20736X	R	-	1	2	TTN	179127495	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	3.363000	0.52321	2.941000	0.99782	0.655000	0.94253	CGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	41	0	G	NM_133378		179419249	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	25.00	18	6	SNP	1.000	A	A	179419249	G	A	179419249	4	1	155	1	0	0	0	0	0	1	0	0	16784	1124	39	1	19278	1	TTN	2	179419249	Nonsense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	12568448	179419249	63780124	38	39426											
TTN	7273	genome.wustl.edu	37	chr2	179472135	179472135	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacattccttaccaaaaacTtctaccctggctgctgcaaa	13	10	4	14	0	1	0	0	0	1	0	2	0	2	0	3	1	6	3	3	1	6	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:179472135T>G	ENST00000591111.1	-	227	48581	c.48357A>C	c.(48355-48357)gaA>gaC	p.E16119D	TTN_ENST00000342992.6_Missense_Mutation_p.E15192D|TTN_ENST00000359218.5_Missense_Mutation_p.E8820D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8695D|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17760D|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8887D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16119	Ig-like 99.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCAAAAACTTCTACCCTGG	0.383																																																	0													167	158	161					2																	179472135		1871	4091	5962	SO:0001583	missense	0			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.48357A>C	2.37:g.179472135T>G	ENSP00000465570:p.Glu16119Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E15192D	ENST00000591111.1	37	c.45576		2	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292435	0.23564	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.99	3.66	0.41972	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.43144	0.1234	N	0.03281	-0.365	0.32084	N	0.592799	B;B;B;B	0.28605	0.121;0.121;0.121;0.217	B;B;B;B	0.30855	0.069;0.069;0.069;0.121	T	0.53092	-0.8487	9	0.87932	D	0	.	8.2865	0.31932	0.0:0.2092:0.0:0.7908	.	8695;8820;8887;16119	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	15192;8695;8887;8820;8695	ENSP00000343764:E15192D;ENSP00000434586:E8695D;ENSP00000340554:E8887D;ENSP00000352154:E8820D	ENSP00000340554:E8887D	E	-	3	2	TTN	179180380	0.973000	0.33851	1.000000	0.80357	0.996000	0.88848	0.030000	0.13688	1.089000	0.41292	0.533000	0.62120	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	39	0	T	NM_133378		179472135	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	G	G	179472135	T	G	179472135	3	3	155	1	0	0	0	0	1	0	0	0	16784	1606	56	4	54757	4	TTN	2	179472135	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	52886	179472135	63727238	39	39427											
TTN	7273	genome.wustl.edu	37	chr2	179476272	179476272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctcatccatttctcagtgCctactggacacatttcaaca	10	13	4	14	0	3	0	3	0	2	0	6	1	4	1	2	1	3	0	2	1	2	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:179476272C>T	ENST00000591111.1	-	219	45985	c.45761G>A	c.(45760-45762)gGc>gAc	p.G15254D	TTN_ENST00000342992.6_Missense_Mutation_p.G14327D|TTN_ENST00000359218.5_Missense_Mutation_p.G7955D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7830D|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G16895D|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8022D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15254	Fibronectin type-III 11. {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)			TTTCTCAGTGCCTACTGGACA	0.423																																																	0													114	109	111					2																	179476272		1923	4130	6053	SO:0001583	missense	0			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.45761G>A	2.37:g.179476272C>T	ENSP00000465570:p.Gly15254Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G14327D	ENST00000591111.1	37	c.42980		2	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682198	0.47991	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.95	5.95	0.96441	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69522	0.3120	L	0.46741	1.465	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	0.69499	-0.5129	9	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	7830;7955;8022;15254	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	14327;7830;8022;7955;7830	ENSP00000343764:G14327D;ENSP00000434586:G7830D;ENSP00000340554:G8022D;ENSP00000352154:G7955D	ENSP00000340554:G8022D	G	-	2	0	TTN	179184517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.739000	0.84976	2.824000	0.97209	0.655000	0.94253	GGC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	19	0	C	NM_133378		179476272	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	T	T	179476272	C	T	179476272	3	4	155	1	0	0	0	0	1	0	0	0	16784	739	26	3	57385	3	TTN	2	179476272	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	4137	179476272	63723101	40	39428											
TTN	7273	genome.wustl.edu	37	chr2	179480173	179480173	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagatgctattggctgttcGatctctccatttaacattct	9	16	7	9	1	2	1	0	0	2	1	5	3	3	1	1	1	2	3	1	1	3	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:179480173G>A	ENST00000591111.1	-	209	43800	c.43576C>T	c.(43576-43578)Cga>Tga	p.R14526*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R13599*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7227*|TTN-AS1_ENST00000589234.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7102*|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R16167*|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7294*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14526	Fibronectin type-III 5. {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)			TTGGCTGTTCGATCTCTCCAT	0.433																																																	0													217	218	217					2																	179480173		1981	4156	6137	SO:0001587	stop_gained	0			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.43576C>T	2.37:g.179480173G>A	ENSP00000465570:p.Arg14526*		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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R13599*	ENST00000591111.1	37	c.40795		2	.	.	.	.	.	.	.	.	.	.	G	59	35.671649	0.99983	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.76	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6153	0.68544	0.0:0.0:0.7262:0.2738	.	.	.	.	X	13599;7102;7294;7227;7102	.	ENSP00000340554:R7294X	R	-	1	2	TTN	179188418	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.646000	0.46630	0.702000	0.31825	0.655000	0.94253	CGA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	76	0	G	NM_133378		179480173	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	1.000	A	A	179480173	G	A	179480173	4	1	155	1	0	0	0	0	0	1	0	0	16784	1066	37	1	59610	1	TTN	2	179480173	Nonsense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	3901	179480173	63719200	41	39429											
TTN	7273	genome.wustl.edu	37	chr2	179604931	179604931	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accacgttgtcagaatgctcTtctttgagcagtacctgctt	8	14	8	11	1	3	2	1	1	2	1	3	2	3	2	2	0	4	5	2	0	2	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:179604931T>C	ENST00000591111.1	-	46	12302	c.12078A>G	c.(12076-12078)gaA>gaG	p.E4026E	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Silent_p.E4105E|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Silent_p.E3980E|TTN_ENST00000589042.1_Silent_p.E4343E|TTN_ENST00000342175.6_Silent_p.E4172E|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAATGCTCTTCTTTGAGCA	0.478																																																	0													100	98	99					2																	179604931		1903	4127	6030	SO:0001819	synonymous_variant	0			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.12078A>G	2.37:g.179604931T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E4172	ENST00000591111.1	37	c.12516		2																																																																																			TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	38	0	T	NM_133378		179604931	-1	tier1	-	no_errors	ENST00000342175	ensembl	human	known	74_37	silent	32.00	17	8	SNP	1.000	C	C	179604931	T	C	179604931	2	2	155	1	0	0	0	0	0	0	0	1	16784	1606	56	4		4	TTN	2	179604931	Silent	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	124758	179604931	63594442	42	39430											
TTN	7273	genome.wustl.edu	37	chr2	179621097	179621097	+	Intron	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattgtttcagtctctcggaTtcctctatctttgcaccttc	5	18	6	12	1	4	0	1	0	3	0	8	2	5	1	2	1	1	2	2	1	1	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:179621097T>G	ENST00000591111.1	-	44	10528				TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E3702D|TTN_ENST00000342175.6_Missense_Mutation_p.E3531D|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTCTCGGATTCCTCTATCT	0.398																																																	0													112	107	108					2																	179621097		1885	4119	6004	SO:0001627	intron_variant	0			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.10303+2613A>C	2.37:g.179621097T>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E3531D	ENST00000591111.1	37	c.10593		2	.	.	.	.	.	.	.	.	.	.	T	13.43	2.235289	0.39498	.	.	ENSG00000155657	ENST00000342175	T	0.68624	-0.34	6.16	0.749	0.18381	.	.	.	.	.	T	0.49881	0.1583	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42649	-0.9439	8	0.87932	D	0	.	1.8071	0.03083	0.117:0.1612:0.2604:0.4614	.	3531	E7ET18	.	D	3531	ENSP00000340554:E3531D	ENSP00000340554:E3531D	E	-	3	2	TTN	179329342	0.990000	0.36364	0.366000	0.25914	0.949000	0.60115	1.110000	0.31147	-0.089000	0.12484	0.528000	0.53228	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	52	0	T	NM_133378		179621097	-1	tier1	-	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	45.83	26	22	SNP	0.950	G	G	179621097	T	G	179621097	1	3	155	0	1	0	0	0	0	0	0	0	16784	1490	52	4		4	TTN	2	179621097	Intron	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	16166	179621097	63578276	43	39431											
TTN	7273	genome.wustl.edu	37	chr2	179631332	179631332	+	Missense_Mutation	SNP	T	T	C	0	1	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	caacaacagcacgctgtttcTcaatgacctgttgatggaac	12	10	8	11	1	1	2	1	2	1	0	2	3	1	3	1	1	4	4	1	1	4	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:179631332T>C	ENST00000591111.1	-	41	9703	c.9479A>G	c.(9478-9480)gAg>gGg	p.E3160G	TTN_ENST00000342992.6_Missense_Mutation_p.E3160G|TTN_ENST00000359218.5_Missense_Mutation_p.E3114G|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3114G|TTN_ENST00000589042.1_Missense_Mutation_p.E3160G|TTN_ENST00000342175.6_Missense_Mutation_p.E3114G|TTN_ENST00000360870.5_Missense_Mutation_p.E3160G|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13492					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)			ACGCTGTTTCTCAATGACCTG	0.368																																																	0													86	77	80					2																	179631332		2203	4300	6503	SO:0001583	missense	0			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.9479A>G	2.37:g.179631332T>C	ENSP00000465570:p.Glu3160Gly		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E3160G	ENST00000591111.1	37	c.9479		2	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977005	0.53720	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21	5.7	5.7	0.88788	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35307	0.0927	M	0.87971	2.92	0.38438	D	0.946613	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999	T	0.42799	-0.9430	9	0.87932	D	0	.	15.9567	0.79893	0.0:0.0:0.0:1.0	.	3114;3114;3114;3160;3160	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	3160;3114;3114;3114;3114;3160	ENSP00000343764:E3160G;ENSP00000434586:E3114G;ENSP00000340554:E3114G;ENSP00000352154:E3114G;ENSP00000354117:E3160G	ENSP00000340554:E3114G	E	-	2	0	TTN	179339577	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.695000	0.84257	2.175000	0.68902	0.482000	0.46254	GAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	27	0	T	NM_133378		179631332	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	62.50	6	10	SNP	1.000	C	C	179631332	T	C	179631332	3	2	155	1	0	0	0	0	1	0	0	0	16784	1551	54	4	101797	4	TTN	2	179631332	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	10235	179631332	63568041	44	39432											
SF3B1	23451	genome.wustl.edu	37	chr2	198257072	198257072	+	Silent	SNP	A	A	G	1	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	cgaatataggtgttcttatcAtcgttgtagattcttgggta	9	17	10	5	2	3	1	1	0	2	1	4	2	3	1	0	2	0	4	0	2	6	9			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:198257072A>G	ENST00000335508.6	-	25	3961	c.3870T>C	c.(3868-3870)gaT>gaC	p.D1290D		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1290					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)			TGTTCTTATCATCGTTGTAGA	0.353			Mis		myelodysplastic syndrome																																			Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													117	117	117					2																	198257072		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3870T>C	2.37:g.198257072A>G			E9PCH3	Silent	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.D1290	ENST00000335508.6	37	c.3870	CCDS33356.1	2																																																																																			SF3B1	-	superfamily_ARM-type_fold	ENSG00000115524		0.353	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	-	0	83	0	A			198257072	-1	tier1	-	no_errors	ENST00000335508	ensembl	human	known	74_37	silent	32.39	48	23	SNP	1.000	G	G	198257072	A	G	198257072	2	3	155	1	0	0	0	0	0	0	0	1	14194	214	8	4		4	SF3B1	2	198257072	Silent	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	18625740	198257072	44942301	45	39433											
SF3B1	23451	genome.wustl.edu	37	chr2	198260982	198260982	+	Missense_Mutation	SNP	T	T	C	0	1	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	aacaatagctattgctacagTggtacaaactctgttctgcc	12	12	7	10	0	2	0	0	0	2	0	2	0	2	0	1	1	7	4	1	1	7	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:198260982T>C	ENST00000335508.6	-	23	3428	c.3337A>G	c.(3337-3339)Act>Gct	p.T1113A		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1113					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)			ATTGCTACAGTGGTACAAACT	0.398			Mis		myelodysplastic syndrome																																			Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													134	126	129					2																	198260982		2203	4300	6503	SO:0001583	missense	0			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.3337A>G	2.37:g.198260982T>C	ENSP00000335321:p.Thr1113Ala		E9PCH3	Missense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.T1113A	ENST00000335508.6	37	c.3337	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	T	13.19	2.162304	0.38217	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51126	0.1656	L	0.48935	1.535	0.80722	D	1	B	0.32338	0.365	B	0.33750	0.169	T	0.46992	-0.9151	9	0.11182	T	0.66	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	1113	O75533	SF3B1_HUMAN	A	1113	.	ENSP00000335321:T1113A	T	-	1	0	SF3B1	197969227	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.963000	0.87922	2.281000	0.76405	0.533000	0.62120	ACT	SF3B1	-	superfamily_ARM-type_fold	ENSG00000115524		0.398	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	-	0	76	0	T			198260982	-1	tier1	-	no_errors	ENST00000335508	ensembl	human	known	74_37	missense	34.00	33	17	SNP	1.000	C	C	198260982	T	C	198260982	3	2	155	1	0	0	0	0	1	0	0	0	14194	1696	59	4	589	4	SF3B1	2	198260982	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	3910	198260982	44938391	46	39434											
SLC4A3	6508	genome.wustl.edu	37	chr2	220497045	220497045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggagccccactggcgggagaCggcccgctggatcaagtttg	7	6	16	12	3	1	1	1	0	0	1	1	4	1	3	3	5	1	2	3	5	1	1	rs369812780		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:220497045C>T	ENST00000358055.3	+	8	1534	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	SLC4A3_ENST00000273063.6_Missense_Mutation_p.T368M|SLC4A3_ENST00000373760.2_Missense_Mutation_p.T341M|SLC4A3_ENST00000317151.3_Missense_Mutation_p.T341M|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Missense_Mutation_p.T368M			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	341					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)		TGGCGGGAGACGGCCCGCTGG	0.662																																																	0								C	MET/THR,MET/THR	0,4406		0,0,2203	38	43	41		1022,1103	3.8	1	2		41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC4A3	NM_005070.3,NM_201574.2	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	341/1233,368/1260	220497045	1,13005	2203	4300	6503	SO:0001583	missense	0				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.1022C>T	2.37:g.220497045C>T	ENSP00000350756:p.Thr341Met		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.T368M	ENST00000358055.3	37	c.1103	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.105717	0.94292	0.0	1.16E-4	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	3.85	3.85	0.44370	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.119672	0.53938	D	0.000055	D	0.89332	0.6685	M	0.73372	2.23	0.58432	D	0.999997	D;D	0.69078	0.995;0.997	P;D	0.64321	0.677;0.924	D	0.91182	0.4977	10	0.87932	D	0	.	16.3106	0.82869	0.0:1.0:0.0:0.0	.	341;368	P48751;P48751-3	B3A3_HUMAN;.	M	341;341;368;368;341;143	ENSP00000350756:T341M;ENSP00000362865:T341M;ENSP00000273063:T368M;ENSP00000362867:T368M;ENSP00000314006:T341M;ENSP00000414722:T143M	ENSP00000273063:T368M	T	+	2	0	SLC4A3	220205289	0.998000	0.40836	0.996000	0.52242	0.996000	0.88848	3.781000	0.55394	2.126000	0.65437	0.561000	0.74099	ACG	SLC4A3	-	superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000114923		0.662	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1		0	92	0	C	NM_005070		220497045	1			no_errors	ENST00000273063	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	220497045	C	T	220497045	3	4	155	1	0	0	0	0	1	0	0	0	14700	536	19	1	1129	1	SLC4A3	2	220497045	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	22236063	220497045	22702328	47	39435											
SP100	6672	genome.wustl.edu	37	chr2	231406625	231406625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaacagagaggggtctcagGgcccacagaagcccatgtgg	12	4	15	10	0	1	3	1	0	1	3	2	4	1	3	2	4	2	0	2	4	2	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:231406625G>T	ENST00000340126.4	+	28	2453	c.2422G>T	c.(2422-2424)Ggc>Tgc	p.G808C	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGGGTCTCAGGGCCCACAGAA	0.463																																																	0													82	81	81					2																	231406625		1884	4113	5997	SO:0001583	missense	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2422G>T	2.37:g.231406625G>T	ENSP00000343023:p.Gly808Cys		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.G808C	ENST00000340126.4	37	c.2422	CCDS42832.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	4.797|4.797	0.148137|0.148137	0.09134|0.09134	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000340126;ENST00000414648|ENST00000431952	T|.	0.46451|.	0.87|.	3.67|3.67	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.33585|0.33585	0.0868|0.0868	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	D;D|.	0.69078|.	0.992;0.997|.	P;P|.	0.54460|.	0.75;0.753|.	T|T	0.31861|0.31861	-0.9928|-0.9928	9|5	0.59425|.	D|.	0.04|.	.|.	4.0314|4.0314	0.09711|0.09711	0.4364:0.1805:0.3831:0.0|0.4364:0.1805:0.3831:0.0	.|.	278;808|.	E9PHN1;P23497-4|.	.;.|.	C|V	808;278|181	ENSP00000343023:G808C|.	ENSP00000343023:G808C|.	G|G	+|+	1|2	0|0	SP100|SP100	231114869|231114869	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.066000|0.066000	0.14489|0.14489	-0.293000|-0.293000	0.08986|0.08986	-0.136000|-0.136000	0.14681|0.14681	GGC|GGG	SP100	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000067066		0.463	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000332246.1		0	45	0	G	NM_003113		231406625	1			no_errors	ENST00000340126	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	T	T	231406625	G	T	231406625	3	4	155	1	0	0	0	0	1	0	0	0	15005	1232	43	3	3082	3	SP100	2	231406625	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	10909580	231406625	11792748	48	39436											
SH3BP4	23677	genome.wustl.edu	37	chr2	235950358	235950358	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggccagacccaagccgtGgagacaaacatcgtgtgcaa	12	5	13	11	2	0	2	0	0	0	2	1	3	0	2	3	3	3	1	3	3	3	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr2:235950358G>C	ENST00000409212.1	+	4	1452	c.945G>C	c.(943-945)gtG>gtC	p.V315V	SH3BP4_ENST00000392011.2_Silent_p.V315V|SH3BP4_ENST00000344528.4_Silent_p.V315V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	315					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)		CCCAAGCCGTGGAGACAAACA	0.617																																																	0													31	37	35					2																	235950358		2202	4298	6500	SO:0001819	synonymous_variant	0			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.945G>C	2.37:g.235950358G>C			O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.V315	ENST00000409212.1	37	c.945	CCDS2513.1	2																																																																																			SH3BP4	-	NULL	ENSG00000130147		0.617	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	HGNC	protein_coding	OTTHUMT00000329763.1	-	0	24	0	G			235950358	1	tier1	-	no_errors	ENST00000344528	ensembl	human	known	74_37	silent	36.36	21	12	SNP	1.000	C	C	235950358	G	C	235950358	2	2	155	1	0	0	0	0	0	0	0	1	14291	1335	47	5		5	SH3BP4	2	235950358	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	4543733	235950358	7249015	49	39437											
TSEN2	80746	genome.wustl.edu	37	chr3	12546688	12546688	+	Missense_Mutation	SNP	T	T	A	0	1	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	aggttaatatgcagaagaaaTccatataggatctttgagta	16	12	9	4	0	1	3	0	1	1	2	2	4	2	4	1	2	1	3	1	2	7	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:12546688T>A	ENST00000284995.6	+	6	1254	c.867T>A	c.(865-867)aaT>aaA	p.N289K	TSEN2_ENST00000383797.5_Missense_Mutation_p.N289K|TSEN2_ENST00000402228.3_Missense_Mutation_p.N289K|TSEN2_ENST00000314571.7_Intron|TSEN2_ENST00000454502.2_Missense_Mutation_p.N230K|TSEN2_ENST00000415684.1_Intron|TSEN2_ENST00000444864.1_Intron	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	289					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GCAGAAGAAATCCATATAGGA	0.348																																																	0													100	101	100					3																	12546688		2203	4300	6503	SO:0001583	missense	0			BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.867T>A	3.37:g.12546688T>A	ENSP00000284995:p.Asn289Lys		B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2	p.N289K	ENST00000284995.6	37	c.867	CCDS2611.1	3	.	.	.	.	.	.	.	.	.	.	T	19.38	3.815645	0.70912	.	.	ENSG00000154743	ENST00000446004;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000537959	T;T;T;T;T	0.76709	-1.04;-1.04;-0.01;-1.04;-1.04	5.23	0.108	0.14548	tRNA intron endonuclease, N-terminal (1);	0.102401	0.64402	D	0.000006	T	0.82130	0.4970	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.976	T	0.77736	-0.2476	10	0.49607	T	0.09	-34.6917	7.8288	0.29330	0.0:0.3168:0.0:0.6832	.	289;230	Q8NCE0;C9IZI7	SEN2_HUMAN;.	K	289;230;289;289;289;262	ENSP00000406238:N289K;ENSP00000392029:N230K;ENSP00000373307:N289K;ENSP00000385976:N289K;ENSP00000284995:N289K	ENSP00000284995:N289K	N	+	3	2	TSEN2	12521688	0.939000	0.31865	0.961000	0.40146	0.994000	0.84299	-0.297000	0.08276	-0.206000	0.10203	0.459000	0.35465	AAT	TSEN2	-	pfam_tRNA_intron_Endonuc_N,pirsf_tRNA_splic_SEN2	ENSG00000154743		0.348	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN2	HGNC	protein_coding	OTTHUMT00000251981.1	-	0	35	0	T	NM_025265		12546688	1	tier1	-	no_errors	ENST00000284995	ensembl	human	known	74_37	missense	32.50	27	13	SNP	0.996	A	A	12546688	T	A	12546688	3	1	155	1	0	0	0	0	1	0	0	0	16660	1432	50	5	885	5	TSEN2	3	12546688	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09		12546688	185475742	50	39438											
SCN5A	6331	genome.wustl.edu	37	chr3	38647455	38647455	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacccacctcgtgttctttcTtgagcatttccatggcctcc	5	14	6	16	1	2	1	0	1	2	0	5	1	4	1	5	1	1	2	5	1	0	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:38647455T>A	ENST00000333535.4	-	10	1474	c.1325A>T	c.(1324-1326)aAg>aTg	p.K442M	SCN5A_ENST00000414099.2_Missense_Mutation_p.K442M|SCN5A_ENST00000455624.2_Missense_Mutation_p.K442M|SCN5A_ENST00000425664.1_Missense_Mutation_p.K442M|SCN5A_ENST00000449557.2_Missense_Mutation_p.K442M|SCN5A_ENST00000450102.2_Missense_Mutation_p.K442M|SCN5A_ENST00000413689.1_Missense_Mutation_p.K442M|SCN5A_ENST00000423572.2_Missense_Mutation_p.K442M|SCN5A_ENST00000443581.1_Missense_Mutation_p.K442M|SCN5A_ENST00000451551.2_Missense_Mutation_p.K442M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	442					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGTTCTTTCTTGAGCATTTC	0.557																																																	0													74	82	79					3																	38647455		2057	4187	6244	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1325A>T	3.37:g.38647455T>A	ENSP00000328968:p.Lys442Met		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.K442M	ENST00000333535.4	37	c.1325	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698637	0.68501	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97066	-4.12;-4.16;-4.16;-4.15;-4.16;-4.12;-4.16;-4.23;-4.15;-4.15	5.54	1.84	0.25277	.	0.240144	0.38272	N	0.001744	D	0.97854	0.9295	M	0.86097	2.795	0.36066	D	0.84179	D;P;D;D;D;D;D	0.69078	0.99;0.739;0.994;0.994;0.994;0.992;0.997	P;P;P;P;P;D;P	0.64144	0.707;0.466;0.847;0.707;0.707;0.922;0.847	D	0.98429	1.0581	10	0.87932	D	0	.	9.4266	0.38583	0.0:0.2025:0.0:0.7975	.	442;442;442;442;442;442;442	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	442	ENSP00000398962:K442M;ENSP00000398266:K442M;ENSP00000410257:K442M;ENSP00000388797:K442M;ENSP00000397915:K442M;ENSP00000416634:K442M;ENSP00000328968:K442M;ENSP00000399524:K442M;ENSP00000403355:K442M;ENSP00000413996:K442M	ENSP00000328968:K442M	K	-	2	0	SCN5A	38622459	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.366000	0.44204	0.169000	0.19679	0.533000	0.62120	AAG	SCN5A	-	NULL	ENSG00000183873		0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0	59	0	T	NM_198056		38647455	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	A	A	38647455	T	A	38647455	3	1	155	1	0	0	0	0	1	0	0	0	13967	1609	56	5	4801	5	SCN5A	3	38647455	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	26100767	38647455	159374975	51	39439											
CTNNB1	1499	genome.wustl.edu	37	chr3	41268766	41268766	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggacctatacttacgaaaAactactgtggaccacaagca	16	7	8	10	1	0	0	0	0	0	0	0	4	0	2	2	2	5	1	2	2	7	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:41268766A>C	ENST00000349496.5	+	7	1284	c.1004A>C	c.(1003-1005)aAa>aCa	p.K335T	CTNNB1_ENST00000396183.3_Missense_Mutation_p.K335T|CTNNB1_ENST00000453024.1_Missense_Mutation_p.K328T|CTNNB1_ENST00000405570.1_Missense_Mutation_p.K335T|CTNNB1_ENST00000396185.3_Missense_Mutation_p.K335T	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	335					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)	p.K335I(8)	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)		ACTTACGAAAAACTACTGTGG	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"	8	Substitution - Missense(8)	liver(7)|kidney(1)											110	108	109					3																	41268766		2203	4300	6503	SO:0001583	missense	0	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.1004A>C	3.37:g.41268766A>C	ENSP00000344456:p.Lys335Thr		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.K335T	ENST00000349496.5	37	c.1004	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732055	0.89390	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82121	0.4968	M	0.89287	3.02	0.80722	D	1	D;D	0.71674	0.981;0.998	D;D	0.76575	0.913;0.988	D	0.85665	0.1291	10	0.66056	D	0.02	-3.7939	15.5934	0.76558	1.0:0.0:0.0:0.0	.	263;335	B4DSW9;P35222	.;CTNB1_HUMAN	T	335;335;335;328;335	ENSP00000385604:K335T;ENSP00000379486:K335T;ENSP00000344456:K335T;ENSP00000411226:K328T;ENSP00000379488:K335T	ENSP00000344456:K335T	K	+	2	0	CTNNB1	41243770	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.339000	0.96797	2.094000	0.63399	0.482000	0.46254	AAA	CTNNB1	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	ENSG00000168036		0.383	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	-	0	130	0	A	NM_001098210		41268766	1	tier1	-	no_errors	ENST00000349496	ensembl	human	known	74_37	missense	20.75	84	22	SNP	1.000	C	C	41268766	A	C	41268766	3	2	155	1	0	0	0	0	1	0	0	0	4025	14	1	4	1026	4	CTNNB1	3	41268766	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	2621311	41268766	156753664	52	39440											
RTP3	83597	genome.wustl.edu	37	chr3	46542088	46542088	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctatagaggaagatttcagtTgatagaggaggttcctatga	13	12	12	4	0	1	5	1	2	0	3	2	7	2	7	1	3	0	2	1	3	5	7			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:46542088T>C	ENST00000296142.3	+	2	970	c.398T>C	c.(397-399)tTg>tCg	p.L133S		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	133					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		AGATTTCAGTTGATAGAGGAG	0.463																																																	0													99	102	101					3																	46542088		2203	4300	6503	SO:0001583	missense	0			AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"Receptor transporter proteins"	15572	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 3"	607181	"transmembrane protein 7", "receptor transporter protein 3"	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.398T>C	3.37:g.46542088T>C	ENSP00000296142:p.Leu133Ser		A2RRP6	Missense_Mutation	SNP	NULL	p.L133S	ENST00000296142.3	37	c.398	CCDS2740.1	3	.	.	.	.	.	.	.	.	.	.	T	0.040	-1.287124	0.01387	.	.	ENSG00000163825	ENST00000296142	T	0.20200	2.09	3.45	-6.89	0.01660	.	5.261840	0.00357	N	0.000027	T	0.07818	0.0196	N	0.02802	-0.49	0.09310	N	1	B	0.31383	0.321	B	0.31869	0.137	T	0.15809	-1.0424	10	0.08837	T	0.75	0.2985	8.6059	0.33773	0.1804:0.578:0.0:0.2415	.	133	Q9BQQ7	RTP3_HUMAN	S	133	ENSP00000296142:L133S	ENSP00000296142:L133S	L	+	2	0	RTP3	46517092	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.845000	0.00735	-2.719000	0.00389	-0.464000	0.05259	TTG	RTP3	-	NULL	ENSG00000163825		0.463	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP3	HGNC	protein_coding	OTTHUMT00000257379.2	-	0	84	0	T	NM_031440		46542088	1	tier1	-	no_errors	ENST00000296142	ensembl	human	known	74_37	missense	30.86	56	25	SNP	0.000	C	C	46542088	T	C	46542088	3	2	155	1	0	0	0	0	1	0	0	0	13780	1821	63	4	404	4	RTP3	3	46542088	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	5273322	46542088	151480342	53	39441											
CELSR3	1951	genome.wustl.edu	37	chr3	48694699	48694699	+	Silent	SNP	C	C	T	0	0	0	1	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	tgccacatgttctcaaggcgCacggtcaggctgttggccag	7	9	13	12	2	2	0	2	0	1	0	3	0	2	0	2	4	1	4	2	4	1	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:48694699C>T	ENST00000164024.4	-	2	4111	c.3831G>A	c.(3829-3831)gtG>gtA	p.V1277V	CELSR3_ENST00000544264.1_Silent_p.V1277V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1277					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)		TCTCAAGGCGCACGGTCAGGC	0.677																																																	0													35	31	32					3																	48694699		2200	4299	6499	SO:0001819	synonymous_variant	0			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.3831G>A	3.37:g.48694699C>T			O75092	Silent	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V1277	ENST00000164024.4	37	c.3831	CCDS2775.1	3																																																																																			CELSR3	-	NULL	ENSG00000008300		0.677	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	-	0	27	0	C	NM_001407		48694699	-1	tier1	-	no_errors	ENST00000544264	ensembl	human	known	74_37	silent	27.27	16	6	SNP	1.000	T	T	48694699	C	T	48694699	2	4	155	1	0	0	0	0	0	0	0	1	3230	697	25	3		3	CELSR3	3	48694699	Silent	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	2152611	48694699	149327731	54	39442											
PBRM1	55193	genome.wustl.edu	37	chr3	52712580	52712580	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcatccttatagtctcGgatggtattatagagttcat	9	17	8	7	1	3	1	2	0	1	1	5	2	4	2	1	2	0	3	1	2	5	7			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:52712580G>T	ENST00000296302.7	-	2	173	c.172C>A	c.(172-174)Cga>Aga	p.R58R	PBRM1_ENST00000394830.3_Silent_p.R58R|PBRM1_ENST00000409767.1_Silent_p.R58R|PBRM1_ENST00000410007.1_Silent_p.R58R|PBRM1_ENST00000356770.4_Silent_p.R58R|PBRM1_ENST00000409057.1_Silent_p.R58R|PBRM1_ENST00000409114.3_Silent_p.R58R|PBRM1_ENST00000337303.4_Silent_p.R58R			Q86U86	PB1_HUMAN	polybromo 1	58					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.R58*(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)		TTATAGTCTCGGATGGTATTA	0.433			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	7	Substitution - Nonsense(7)	kidney(6)|large_intestine(1)											130	118	122					3																	52712580		2203	4300	6503	SO:0001819	synonymous_variant	0			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.172C>A	3.37:g.52712580G>T			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.R58	ENST00000296302.7	37	c.172		3																																																																																			PBRM1	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000163939		0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	-	0	55	0	G	NM_018165		52712580	-1	tier1	-	no_errors	ENST00000296302	ensembl	human	known	74_37	silent	9.76	36	4	SNP	1.000	T	T	52712580	G	T	52712580	2	4	155	1	0	0	0	0	0	0	0	1	11530	1124	39	2		2	PBRM1	3	52712580	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	4017881	52712580	145309850	55	39443											
ASB14	142686	genome.wustl.edu	37	chr3	57317227	57317227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaagatcttgcctttcCgcagtaacatttccatgatt	12	13	6	10	1	1	3	0	1	1	2	3	3	3	3	3	0	3	2	3	0	3	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:57317227C>T	ENST00000389601.3	-	7	833	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	ASB14_ENST00000487349.1_Missense_Mutation_p.R237Q	NM_130387.5	NP_569058.1	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box containing 14	238					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CTTGCCTTTCCGCAGTAACAT	0.453																																																	0													81	71	74					3																	57317227		692	1591	2283	SO:0001583	missense	0			AF403032	CCDS46856.1, CCDS46856.2	3p21.1	2013-01-10	2011-01-25			ENSG00000239388		"Ankyrin repeat domain containing"	19766	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 14"			12076535	Standard	NM_130387		Approved	DKFZp313L0121	uc021wzs.1	A6NK59		ENST00000389601.3:c.713G>A	3.37:g.57317227C>T	ENSP00000374252:p.Arg238Gln		C9JX97|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.R238Q	ENST00000389601.3	37	c.713		3	.	.	.	.	.	.	.	.	.	.	C	2.671	-0.277618	0.05679	.	.	ENSG00000239388	ENST00000487349;ENST00000389601;ENST00000438870	T;T	0.63580	-0.05;-0.05	5.97	3.62	0.41486	.	.	.	.	.	T	0.35335	0.0928	N	0.02775	-0.495	0.20196	N	0.999923	B	0.06786	0.001	B	0.08055	0.003	T	0.16867	-1.0388	9	0.15952	T	0.53	.	11.2116	0.48802	0.0:0.1388:0.0:0.8612	.	237	C9JX97	.	Q	237;238;73	ENSP00000419199:R237Q;ENSP00000374252:R238Q	ENSP00000374252:R238Q	R	-	2	0	ASB14	57292267	0.889000	0.30405	0.997000	0.53966	0.372000	0.29890	0.616000	0.24344	0.518000	0.28383	-1.084000	0.02203	CGG	ASB14	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000239388		0.453	ASB14-201	KNOWN	basic	protein_coding	ASB14	HGNC	protein_coding		-	0	58	0	C			57317227	-1	tier1	-	no_errors	ENST00000389601	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.864	T	T	57317227	C	T	57317227	3	4	155	1	0	0	0	0	1	0	0	0	1019	652	23	1	1105	1	ASB14	3	57317227	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	4604647	57317227	140705203	56	39444											
STX19	415117	genome.wustl.edu	37	chr3	93733819	93733819	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgtattctgcctgaatttTtatctcctttgtaatggtag	8	19	8	6	0	2	1	0	1	2	0	3	2	2	1	2	1	1	3	2	1	5	8			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:93733819T>G	ENST00000315099.2	-	2	551	c.295A>C	c.(295-297)Aaa>Caa	p.K99Q	ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000471138.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	99					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						GCCTGAATTTTTATCTCCTTT	0.353																																																	0													140	145	143					3																	93733819		2203	4300	6503	SO:0001583	missense	0			AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.295A>C	3.37:g.93733819T>G	ENSP00000320679:p.Lys99Gln			Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.K99Q	ENST00000315099.2	37	c.295	CCDS33793.1	3	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844666	0.71488	.	.	ENSG00000178750	ENST00000315099	T	0.22539	1.95	4.47	4.47	0.54385	t-SNARE (1);Syntaxin, N-terminal (1);	0.049848	0.85682	D	0.000000	T	0.43144	0.1234	M	0.67397	2.05	0.50467	D	0.999877	D	0.71674	0.998	D	0.68943	0.961	T	0.40136	-0.9579	10	0.59425	D	0.04	-13.6554	14.4476	0.67361	0.0:0.0:0.0:1.0	.	99	Q8N4C7	STX19_HUMAN	Q	99	ENSP00000320679:K99Q	ENSP00000320679:K99Q	K	-	1	0	STX19	95216509	1.000000	0.71417	0.991000	0.47740	0.942000	0.58702	7.593000	0.82686	1.964000	0.57103	0.533000	0.62120	AAA	STX19	-	pfam_Syntaxin_N,superfamily_t-SNARE	ENSG00000178750		0.353	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX19	HGNC	protein_coding	OTTHUMT00000352909.1	-	0	42	0	T	NM_001001850		93733819	-1	tier1	-	no_errors	ENST00000315099	ensembl	human	known	74_37	missense	37.50	15	9	SNP	1.000	G	G	93733819	T	G	93733819	3	3	155	1	0	0	0	0	1	0	0	0	15389	1850	64	4	593	4	STX19	3	93733819	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	36416592	93733819	104288611	57	39445											
CCDC54	84692	genome.wustl.edu	37	chr3	107097242	107097242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtgctaccaagttagaaGaattcatccagtggcttctt	11	13	8	9	0	3	2	2	0	1	2	4	2	4	2	2	1	2	3	2	1	5	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:107097242G>A	ENST00000261058.1	+	1	1055	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	270										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CAAGTTAGAAGAATTCATCCA	0.428																																																	0													83	93	90					3																	107097242		2203	4300	6503	SO:0001583	missense	0			AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.808G>A	3.37:g.107097242G>A	ENSP00000261058:p.Glu270Lys		Q96A43	Missense_Mutation	SNP	NULL	p.E270K	ENST00000261058.1	37	c.808	CCDS2949.1	3	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399163	0.62177	.	.	ENSG00000138483	ENST00000261058	T	0.60797	0.16	5.09	3.29	0.37713	.	0.446258	0.18909	N	0.127814	T	0.53850	0.1822	M	0.66939	2.045	0.20975	N	0.999813	B	0.22683	0.073	B	0.25884	0.064	T	0.53201	-0.8472	10	0.87932	D	0	-0.0018	7.9568	0.30047	0.1925:0.0:0.8075:0.0	.	270	Q8NEL0	CCD54_HUMAN	K	270	ENSP00000261058:E270K	ENSP00000261058:E270K	E	+	1	0	CCDC54	108579932	0.982000	0.34865	0.094000	0.20943	0.975000	0.68041	1.403000	0.34612	0.539000	0.28788	0.460000	0.39030	GAA	CCDC54	-	NULL	ENSG00000138483		0.428	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC54	HGNC	protein_coding	OTTHUMT00000353651.1	-	0	81	0	G	NM_032600		107097242	1	tier1	-	no_errors	ENST00000261058	ensembl	human	known	74_37	missense	29.69	45	19	SNP	0.487	A	A	107097242	G	A	107097242	3	1	155	1	0	0	0	0	1	0	0	0	2831	943	33	3	810	3	CCDC54	3	107097242	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	13363423	107097242	90925188	58	39446											
PLXND1	23129	genome.wustl.edu	37	chr3	129291689	129291689	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagcccccccttaccacgTaggagaagcggtcccgggac	8	5	12	16	3	0	1	0	0	0	1	1	3	1	2	5	3	4	2	5	3	3	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:129291689T>G	ENST00000324093.4	-	14	3111	c.2933A>C	c.(2932-2934)tAc>tCc	p.Y978S	PLXND1_ENST00000393239.1_Missense_Mutation_p.Y978S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	978	IPT/TIG 1.				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						CCTTACCACGTAGGAGAAGCG	0.682																																					Ovarian(97;366 1484 3738 22084 39045)												0													52	49	50					3																	129291689		2203	4300	6503	SO:0001583	missense	0			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.2933A>C	3.37:g.129291689T>G	ENSP00000317128:p.Tyr978Ser		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.Y978S	ENST00000324093.4	37	c.2933	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528508	0.64860	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.69685	-0.42;-0.42	5.1	5.1	0.69264	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.551299	0.18397	N	0.142471	D	0.83408	0.5248	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.86292	0.1674	10	0.87932	D	0	.	13.4772	0.61316	0.0:0.0:0.0:1.0	.	978	Q9Y4D7	PLXD1_HUMAN	S	978	ENSP00000317128:Y978S;ENSP00000376931:Y978S	ENSP00000317128:Y978S	Y	-	2	0	PLXND1	130774379	0.997000	0.39634	0.985000	0.45067	0.709000	0.40893	2.841000	0.48223	1.916000	0.55485	0.533000	0.62120	TAC	PLXND1	-	superfamily_Ig_E-set,smart_IPT	ENSG00000004399		0.682	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	-	0	81	0	T	NM_015103		129291689	-1	tier1	-	no_errors	ENST00000324093	ensembl	human	known	74_37	missense	25.71	52	18	SNP	0.947	G	G	129291689	T	G	129291689	3	3	155	1	0	0	0	0	1	0	0	0	12166	1638	57	4	2936	4	PLXND1	3	129291689	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	22194447	129291689	68730741	59	39447											
ACPP	55	genome.wustl.edu	37	chr3	132071602	132071602	+	Missense_Mutation	SNP	T	T	A	0	1	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	ggcctacagatggcgctagaTgtttacaacggactccttcc	9	10	10	12	2	0	2	0	0	0	2	2	3	2	3	3	3	3	2	3	3	4	5	rs116804987	byFrequency	TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:132071602T>A	ENST00000336375.5	+	9	993	c.903T>A	c.(901-903)gaT>gaA	p.D301E	ACPP_ENST00000475741.1_Missense_Mutation_p.D268E|ACPP_ENST00000351273.7_Missense_Mutation_p.D301E	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	301					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.D301D(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGGCGCTAGATGTTTACAACG	0.423																																																	2	Substitution - coding silent(2)	lung(2)											164	149	154					3																	132071602		2203	4300	6503	SO:0001583	missense	0				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.903T>A	3.37:g.132071602T>A	ENSP00000337471:p.Asp301Glu		D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.D301E	ENST00000336375.5	37	c.903	CCDS3073.1	3	.	.	.	.	.	.	.	.	.	.	T	10.51	1.370296	0.24771	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.17528	2.27;2.27;2.27	5.83	-4.88	0.03113	.	0.318910	0.31020	N	0.008412	T	0.14270	0.0345	M	0.65975	2.015	0.29680	N	0.841752	B;B;B	0.19200	0.001;0.001;0.034	B;B;B	0.18871	0.002;0.001;0.023	T	0.06391	-1.0829	10	0.52906	T	0.07	.	7.3553	0.26714	0.1086:0.4003:0.0:0.4911	.	301;301;268	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	E	301;268;301	ENSP00000337471:D301E;ENSP00000417744:D268E;ENSP00000323036:D301E	ENSP00000337471:D301E	D	+	3	2	ACPP	133554292	0.997000	0.39634	0.360000	0.25837	0.002000	0.02628	0.096000	0.15147	-1.178000	0.02741	-1.232000	0.01568	GAT	ACPP	-	pfam_His_Pase_superF_clade-2	ENSG00000014257		0.423	ACPP-001	KNOWN	basic|CCDS	protein_coding	ACPP	HGNC	protein_coding	OTTHUMT00000356699.2	-	0	110	0	T	NM_001099		132071602	1	tier1	-	no_errors	ENST00000351273	ensembl	human	known	74_37	missense	35.48	40	22	SNP	0.966	A	A	132071602	T	A	132071602	3	1	155	1	0	0	0	0	1	0	0	0	167	1461	51	5	937	5	ACPP	3	132071602	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	2779913	132071602	65950828	60	39448											
XRN1	54464	genome.wustl.edu	37	chr3	142066091	142066091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacattttctgtgagggtCatgttttctttgctgatatt	6	21	8	6	0	3	2	1	2	2	0	3	2	3	2	0	1	2	2	0	1	2	8			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:142066091C>A	ENST00000264951.4	-	33	3979	c.3862G>T	c.(3862-3864)Gac>Tac	p.D1288Y	XRN1_ENST00000392981.2_Missense_Mutation_p.D1288Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1288					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTGTGAGGGTCATGTTTTCTT	0.299																																																	0													138	148	145					3																	142066091		2201	4292	6493	SO:0001583	missense	0			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3862G>T	3.37:g.142066091C>A	ENSP00000264951:p.Asp1288Tyr		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.D1288Y	ENST00000264951.4	37	c.3862	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489215	0.64074	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.31247	1.5;1.5	4.57	4.57	0.56435	.	0.374787	0.28630	N	0.014662	T	0.31482	0.0798	L	0.27053	0.805	0.80722	D	1	P;B	0.41265	0.744;0.057	P;B	0.46479	0.518;0.073	T	0.14090	-1.0485	10	0.59425	D	0.04	-5.9451	15.8858	0.79247	0.0:1.0:0.0:0.0	.	1288;1288	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	Y	1288	ENSP00000264951:D1288Y;ENSP00000376707:D1288Y	ENSP00000264951:D1288Y	D	-	1	0	XRN1	143548781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.883000	0.63128	2.244000	0.73946	0.563000	0.77884	GAC	XRN1	-	pirsf_5_3_exoribonuclease_1	ENSG00000114127		0.299	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	HGNC	protein_coding	OTTHUMT00000354087.2	-	0	86	0	C	NM_019001		142066091	-1	tier1	-	no_errors	ENST00000264951	ensembl	human	known	74_37	missense	33.33	30	15	SNP	1.000	A	A	142066091	C	A	142066091	3	1	155	1	0	0	0	0	1	0	0	0	17508	826	29	3	1298	3	XRN1	3	142066091	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	9994489	142066091	55956339	61	39449											
VEPH1	79674	genome.wustl.edu	37	chr3	156983327	156983327	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacttacagactttcctttTtgaaacagaagttgatttcc	12	15	6	8	0	0	4	0	2	0	2	2	5	2	4	2	0	3	1	2	0	4	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:156983327T>A	ENST00000362010.2	-	13	2560	c.2253A>T	c.(2251-2253)caA>caT	p.Q751H	VEPH1_ENST00000392833.2_Missense_Mutation_p.Q706H|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.Q751H|VEPH1_ENST00000543418.1_Missense_Mutation_p.Q706H|RP11-550I24.2_ENST00000475102.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	751	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					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)			ACTTTCCTTTTTGAAACAGAA	0.358																																																	0													140	135	137					3																	156983327		2203	4300	6503	SO:0001583	missense	0			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.2253A>T	3.37:g.156983327T>A	ENSP00000354919:p.Gln751His		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q751H	ENST00000362010.2	37	c.2253	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	T	18.44	3.623662	0.66901	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.55	-4.18	0.03846	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.053986	0.64402	D	0.000001	T	0.64571	0.2610	N	0.24115	0.695	0.80722	D	1	D;D	0.55800	0.966;0.973	P;P	0.57776	0.631;0.827	T	0.62751	-0.6788	10	0.32370	T	0.25	-2.8199	7.0072	0.24844	0.095:0.5333:0.2009:0.1708	.	706;751	Q14D04-2;Q14D04	.;MELT_HUMAN	H	706;751;706;751	ENSP00000376578:Q706H;ENSP00000354919:Q751H;ENSP00000446258:Q706H;ENSP00000376577:Q751H	ENSP00000354919:Q751H	Q	-	3	2	VEPH1	158466021	0.873000	0.30073	0.991000	0.47740	0.961000	0.63080	-0.189000	0.09629	-0.379000	0.07906	-0.256000	0.11100	CAA	VEPH1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000197415		0.358	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	-	0	112	0	T	NM_024621		156983327	-1	tier1	-	no_errors	ENST00000362010	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.590	A	A	156983327	T	A	156983327	3	1	155	1	0	0	0	0	1	0	0	0	17203	1838	64	5	256	5	VEPH1	3	156983327	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	14917236	156983327	41039103	62	39450											
GP5	2814	genome.wustl.edu	37	chr3	194117361	194117361	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctctctgattaattttcGaaagagttggccaattttaa	11	17	6	7	1	2	2	0	1	2	1	5	3	2	2	1	1	0	1	1	1	4	6	rs143237677		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr3:194117361G>A	ENST00000401815.1	-	1	1722	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*	GP5_ENST00000323007.3_Nonsense_Mutation_p.R551*			P40197	GPV_HUMAN	glycoprotein V (platelet)	551					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		ATTAATTTTCGAAAGAGTTGG	0.438																																																	0													105	123	117					3																	194117361		2199	4297	6496	SO:0001587	stop_gained	0			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"CD molecules"	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1651C>T	3.37:g.194117361G>A	ENSP00000383931:p.Arg551*		D1MER9	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R551*	ENST00000401815.1	37	c.1651	CCDS3307.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.039549	0.97226	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	.	.	.	4.1	2.13	0.27403	.	0.312775	0.18568	N	0.137438	.	.	.	.	.	.	0.40239	D	0.977932	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8303	0.23907	0.0:0.1776:0.5892:0.2332	.	.	.	.	X	551	.	ENSP00000319286:R551X	R	-	1	2	GP5	195598650	0.964000	0.33143	0.659000	0.29680	0.898000	0.52572	0.764000	0.26532	0.355000	0.24131	0.542000	0.68232	CGA	GP5	-	NULL	ENSG00000178732		0.438	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP5	HGNC	protein_coding	OTTHUMT00000317710.1	-	0	103	0	G	NM_004488		194117361	-1	tier1	-	no_errors	ENST00000323007	ensembl	human	known	74_37	nonsense	9.62	47	5	SNP	0.999	A	A	194117361	G	A	194117361	4	1	155	1	0	0	0	0	0	1	0	0	6609	1066	37	1	35	1	GP5	3	194117361	Nonsense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	37134034	194117361	3905069	63	39451											
EVC2	132884	genome.wustl.edu	37	chr4	5642461	5642461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cttggggtgagaggtggccaCtgctggtgagatttttcagc	6	12	16	7	0	1	2	1	2	0	2	1	4	1	2	1	5	2	1	1	5	0	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr4:5642461C>A	ENST00000344408.5	-	10	1303	c.1250G>T	c.(1249-1251)aGt>aTt	p.S417I	EVC2_ENST00000310917.2_Missense_Mutation_p.S337I|EVC2_ENST00000344938.1_Missense_Mutation_p.S417I	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	417					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						gaggtggccactgctggtgag	0.453																																																	0													101	100	101					4																	5642461		2203	4300	6503	SO:0001583	missense	0			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.1250G>T	4.37:g.5642461C>A	ENSP00000342144:p.Ser417Ile		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.S417I	ENST00000344408.5	37	c.1250	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	C	6.822	0.520788	0.13005	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.78364	-1.17;-1.17;-1.17	4.25	1.51	0.23008	.	0.537818	0.19199	N	0.120234	T	0.75968	0.3922	L	0.56769	1.78	0.09310	N	1	D	0.54397	0.966	P	0.52109	0.69	T	0.64888	-0.6301	10	0.40728	T	0.16	3.2052	5.2606	0.15571	0.0:0.4799:0.2742:0.246	.	417	Q86UK5	LBN_HUMAN	I	417;337;417	ENSP00000339954:S417I;ENSP00000311683:S337I;ENSP00000342144:S417I	ENSP00000311683:S337I	S	-	2	0	EVC2	5693362	0.000000	0.05858	0.004000	0.12327	0.049000	0.14656	-0.097000	0.11042	0.041000	0.15688	-0.948000	0.02665	AGT	EVC2	-	pfam_Limbin	ENSG00000173040		0.453	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	-	0	31	0	C	NM_147127		5642461	-1	tier1	-	no_errors	ENST00000344408	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.001	A	A	5642461	C	A	5642461	3	1	155	1	0	0	0	0	1	0	0	0	5302	565	20	3	2728	3	EVC2	4	5642461	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09		5642461	185511815	64	39452											
TBC1D1	23216	genome.wustl.edu	37	chr4	38126581	38126581	+	Splice_Site	SNP	A	A	T	1	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	ctgcatttctgtgttttctcAgatatgatttttcttcaggg	6	20	8	7	0	4	2	2	1	3	1	5	2	4	2	0	1	1	2	0	1	1	7			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr4:38126581A>T	ENST00000261439.4	+	18	3317		c.e18-1		TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_Splice_Site	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						GTGTTTTCTCAGATATGATTT	0.418																																																	0													118	113	115					4																	38126581		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2963-1A>T	4.37:g.38126581A>T			B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Splice_Site	SNP	-	e17-2	ENST00000261439.4	37	c.2963-2	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287402	0.80803	.	.	ENSG00000065882	ENST00000261439;ENST00000454732;ENST00000510573	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3756	0.74602	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D1	37802976	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.757000	0.91657	2.206000	0.71126	0.533000	0.62120	.	TBC1D1	-	-	ENSG00000065882		0.418	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	-	0	87	0	A	NM_015173	Intron	38126581	1	tier1	-	no_errors	ENST00000261439	ensembl	human	known	74_37	splice_site	38.75	49	31	SNP	1.000	T	T	38126581	A	T	38126581	5	4	155	1	0	0	0	0	0	0	1	0	15644	202	7	5	3027	5	TBC1D1	4	38126581	Splice_Site	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	32484120	38126581	153027695	65	39453											
PDS5A	23244	genome.wustl.edu	37	chr4	39905727	39905727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatccagctgactttctctgCagcttcctttcctgcttcac	5	16	5	15	0	2	1	1	1	1	0	6	1	5	1	3	0	4	4	3	0	1	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr4:39905727C>T	ENST00000303538.8	-	12	1857	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T	PDS5A_ENST00000503396.1_Missense_Mutation_p.A440T	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						ACTTTCTCTGCAGCTTCCTTT	0.383																																																	0													83	74	77					4																	39905727		1862	4118	5980	SO:0001583	missense	0			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.1318G>A	4.37:g.39905727C>T	ENSP00000303427:p.Ala440Thr			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A440T	ENST00000303538.8	37	c.1318	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610912	0.66558	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T	0.64803	-0.12	5.04	5.04	0.67666	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	L	0.54323	1.7	0.80722	D	1	B;P	0.41345	0.321;0.746	B;P	0.49451	0.138;0.611	T	0.66444	-0.5922	9	.	.	.	-13.2431	18.7363	0.91756	0.0:1.0:0.0:0.0	.	440;440	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	T	440	ENSP00000303427:A440T	.	A	-	1	0	PDS5A	39582122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.915000	0.56409	2.502000	0.84385	0.655000	0.94253	GCA	PDS5A	-	superfamily_ARM-type_fold	ENSG00000121892		0.383	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	-	0	57	0	C	NM_015200		39905727	-1	tier1	-	no_errors	ENST00000303538	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	39905727	C	T	39905727	3	4	155	1	0	0	0	0	1	0	0	0	11730	710	25	3	2816	3	PDS5A	4	39905727	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	1779146	39905727	151248549	66	39454											
POLR2B	5431	genome.wustl.edu	37	chr4	57889570	57889570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggttcgtgtatcaggagatGatgttattataggcaaaaca	13	12	12	4	1	1	2	1	1	0	1	2	3	1	2	0	3	1	4	0	3	6	5	rs553505190		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr4:57889570G>A	ENST00000381227.1	+	20	3003	c.2590G>A	c.(2590-2592)Gat>Aat	p.D864N	POLR2B_ENST00000431623.2_Missense_Mutation_p.D789N|POLR2B_ENST00000441246.2_Missense_Mutation_p.D857N|POLR2B_ENST00000314595.5_Missense_Mutation_p.D864N			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	864					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)					ATCAGGAGATGATGTTATTAT	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		18916	0		0	False		,,,				2504	0																0													107	99	102					4																	57889570		2203	4300	6503	SO:0001583	missense	0				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.2590G>A	4.37:g.57889570G>A	ENSP00000370625:p.Asp864Asn		A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.D864N	ENST00000381227.1	37	c.2590	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.532746	0.96446	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.52	5.52	0.82312	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94497	0.7706	10	0.87932	D	0	.	19.6296	0.95694	0.0:0.0:1.0:0.0	.	789;864	C9J4M6;P30876	.;RPB2_HUMAN	N	864;789;857;864	ENSP00000370625:D864N;ENSP00000391096:D789N;ENSP00000391452:D857N;ENSP00000312735:D864N	ENSP00000312735:D864N	D	+	1	0	POLR2B	57584327	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.873000	0.98535	0.563000	0.77884	GAT	POLR2B	-	pfam_DNA-dir_RNA_pol_su2_6	ENSG00000047315		0.443	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	-	0	76	0	G	NM_000938		57889570	1	tier1	-	no_errors	ENST00000314595	ensembl	human	known	74_37	missense	29.23	46	19	SNP	1.000	A	A	57889570	G	A	57889570	3	1	155	1	0	0	0	0	1	0	0	0	12254	1290	45	3	2664	3	POLR2B	4	57889570	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	17983843	57889570	133264706	67	39455											
PCDH18	54510	genome.wustl.edu	37	chr4	138451539	138451539	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaacgttgtcattttcGtcaatgatggtgagcacaac	12	11	10	8	2	2	2	2	2	0	0	3	3	2	3	0	2	3	2	0	2	3	3	rs373847652	byFrequency	TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr4:138451539G>A	ENST00000344876.4	-	1	2090	c.1704C>T	c.(1702-1704)gaC>gaT	p.D568D	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.D568D|PCDH18_ENST00000507846.1_Silent_p.D348D|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	568	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)					TGTCATTTTCGTCAATGATGG	0.453													G|||	2	0.000399361	8e-04	0	5008	,	,		22857	0		0	False		,,,				2504	0.001																0								G		1,4405	2.1+/-5.4	0,1,2202	185	175	178		1704	0.7	1	4		178	0,8600		0,0,4300	no	coding-synonymous	PCDH18	NM_019035.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		568/1136	138451539	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1704C>T	4.37:g.138451539G>A			A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D568	ENST00000344876.4	37	c.1704	CCDS34064.1	4																																																																																			PCDH18	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000189184		0.453	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	-	0	22	0	G	NM_019035		138451539	-1	tier1	-	no_errors	ENST00000344876	ensembl	human	known	74_37	silent	31.25	11	5	SNP	1.000	A	A	138451539	G	A	138451539	2	1	155	1	0	0	0	0	0	0	0	1	11552	1136	40	1		1	PCDH18	4	138451539	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	80561969	138451539	52702737	68	39456											
FBXW7	55294	genome.wustl.edu	37	chr4	153245464	153245464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgactggtgccctgttaacGtgtgaatgcaattccctgtc	8	12	10	11	2	0	1	0	1	0	0	2	2	1	1	2	1	3	2	2	1	3	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr4:153245464G>A	ENST00000281708.4	-	11	2956	c.1727C>T	c.(1726-1728)aCg>aTg	p.T576M	FBXW7_ENST00000393956.3_Missense_Mutation_p.T400M|FBXW7_ENST00000603548.1_Missense_Mutation_p.T576M|FBXW7_ENST00000603841.1_Missense_Mutation_p.T576M|FBXW7_ENST00000296555.5_Missense_Mutation_p.T458M|FBXW7_ENST00000263981.5_Missense_Mutation_p.T496M	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	576					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCCTGTTAACGTGTGAATGCA	0.408			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											146	118	127					4																	153245464		2203	4300	6503	SO:0001583	missense	0			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.1727C>T	4.37:g.153245464G>A	ENSP00000281708:p.Thr576Met		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T576M	ENST00000281708.4	37	c.1727	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383182	0.61845	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.71	5.71	0.89125	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	0.83399	0.5246	M	0.88241	2.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.947;0.986;0.957;0.957	D	0.85700	0.1312	10	0.72032	D	0.01	-10.0142	19.8576	0.96767	0.0:0.0:1.0:0.0	.	400;576;458;496	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	M	576;458;496;400	ENSP00000281708:T576M;ENSP00000296555:T458M;ENSP00000263981:T496M;ENSP00000377528:T400M	ENSP00000263981:T496M	T	-	2	0	FBXW7	153464914	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	9.869000	0.99810	2.696000	0.92011	0.655000	0.94253	ACG	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109670		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	-	0	58	0	G			153245464	-1	tier1	rs150160525	no_errors	ENST00000281708	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	A	A	153245464	G	A	153245464	3	1	155	1	0	0	0	0	1	0	0	0	5791	1145	40	1	404	1	FBXW7	4	153245464	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	14793925	153245464	37908812	69	39457											
DCHS2	54798	genome.wustl.edu	37	chr4	155243619	155243619	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccattgttggcgtcaatcTtaaagtgatcagaactatct	12	13	7	9	1	4	2	2	1	2	1	4	2	4	2	1	1	1	1	1	1	5	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr4:155243619T>G	ENST00000357232.4	-	13	2674	c.2675A>C	c.(2674-2676)aAg>aCg	p.K892T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	892	Cadherin 7. {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)		GGCGTCAATCTTAAAGTGATC	0.343																																																	0													131	111	118					4																	155243619		2203	4300	6503	SO:0001583	missense	0			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.2675A>C	4.37:g.155243619T>G	ENSP00000349768:p.Lys892Thr		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K892T	ENST00000357232.4	37	c.2675	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	T	16.12	3.031980	0.54790	.	.	ENSG00000197410	ENST00000357232	T	0.49720	0.77	5.73	3.32	0.38043	Cadherin (4);Cadherin-like (1);	0.405721	0.24072	N	0.041815	T	0.32436	0.0829	N	0.11651	0.15	0.80722	D	1	P	0.49185	0.92	P	0.53313	0.723	T	0.13442	-1.0509	10	0.12103	T	0.63	.	5.2485	0.15510	0.1311:0.1394:0.0:0.7294	.	892	Q6V1P9	PCD23_HUMAN	T	892	ENSP00000349768:K892T	ENSP00000349768:K892T	K	-	2	0	DCHS2	155463069	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.149000	0.58091	0.538000	0.28769	0.533000	0.62120	AAG	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.343	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	86	0	T	NM_001142552		155243619	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	34.78	30	16	SNP	1.000	G	G	155243619	T	G	155243619	3	3	155	1	0	0	0	0	1	0	0	0	4297	1609	56	4	6127	4	DCHS2	4	155243619	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	1998155	155243619	35910657	70	39458											
DCHS2	54798	genome.wustl.edu	37	chr4	155254348	155254348	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccgcccactgtctctgtcTtccgcacgtgcgaggtacaa	6	11	9	15	4	2	0	0	0	2	0	5	1	4	0	3	1	2	2	3	1	2	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr4:155254348T>G	ENST00000357232.4	-	9	1514	c.1515A>C	c.(1513-1515)gaA>gaC	p.E505D	DCHS2_ENST00000339452.1_Missense_Mutation_p.E1004D|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	505	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)		TGTCTCTGTCTTCCGCACGTG	0.602																																																	0													65	61	62					4																	155254348		2203	4300	6503	SO:0001583	missense	0			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.1515A>C	4.37:g.155254348T>G	ENSP00000349768:p.Glu505Asp		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E505D	ENST00000357232.4	37	c.1515	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	T	11.62	1.691539	0.30052	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.52295	0.67;0.67	5.6	-4.58	0.03410	Cadherin (4);Cadherin-like (1);	0.845925	0.10156	N	0.709001	T	0.42585	0.1209	L	0.58810	1.83	0.80722	D	1	P;P	0.44521	0.837;0.837	B;P	0.46543	0.318;0.52	T	0.52056	-0.8626	10	0.20519	T	0.43	.	8.1433	0.31097	0.0:0.4549:0.1198:0.4253	.	1004;505	E9PC11;Q6V1P9	.;PCD23_HUMAN	D	505;1004;1004	ENSP00000349768:E505D;ENSP00000345062:E1004D	ENSP00000345062:E1004D	E	-	3	2	DCHS2	155473798	0.001000	0.12720	0.001000	0.08648	0.420000	0.31355	-0.461000	0.06712	-1.168000	0.02776	-0.376000	0.06991	GAA	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.602	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	51	0	T	NM_001142552		155254348	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	25.76	49	17	SNP	0.002	G	G	155254348	T	G	155254348	3	3	155	1	0	0	0	0	1	0	0	0	4297	1606	56	4	7399	4	DCHS2	4	155254348	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	10729	155254348	35899928	71	39459											
TRIM61	391712	genome.wustl.edu	37	chr4	165891052	165891052	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgatgcaggagagacagaAgttatgcccacagctgatgg	14	7	13	7	0	0	4	0	2	0	2	0	6	0	5	1	2	3	3	1	2	3	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr4:165891052A>C	ENST00000329314.5	-	3	715	c.103T>G	c.(103-105)Ttc>Gtc	p.F35V		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	35						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		GAGAGACAGAAGTTATGCCCA	0.488																																																	0													23	21	21					4																	165891052		2127	4168	6295	SO:0001583	missense	0				CCDS34093.1	4q32.3	2013-01-09	2011-01-25			ENSG00000183439		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24339	protein-coding gene	gene with protein product			"ring finger protein 35", "tripartite motif-containing 61"	RNF35			Standard	NM_001012414		Approved		uc003iqw.3	Q5EBN2		ENST00000329314.5:c.103T>G	4.37:g.165891052A>C	ENSP00000332288:p.Phe35Val			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.F35V	ENST00000329314.5	37	c.103	CCDS34093.1	4	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196727	0.58126	.	.	ENSG00000183439	ENST00000329314	T	0.32753	1.44	3.22	1.97	0.26223	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.56645	0.1999	M	0.89534	3.04	0.24854	N	0.992388	D	0.71674	0.998	D	0.67382	0.951	T	0.45483	-0.9258	9	0.87932	D	0	.	7.5466	0.27770	0.7692:0.2307:0.0:0.0	.	35	Q5EBN2	TRI61_HUMAN	V	35	ENSP00000332288:F35V	ENSP00000332288:F35V	F	-	1	0	TRIM61	166110502	1.000000	0.71417	0.509000	0.27700	0.784000	0.44337	5.141000	0.64814	0.419000	0.25927	0.473000	0.43528	TTC	TRIM61	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000183439		0.488	TRIM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM61	HGNC	protein_coding	OTTHUMT00000364331.1	-	0	231	0	A	XM_373038		165891052	-1	tier1	-	no_errors	ENST00000329314	ensembl	human	known	74_37	missense	8.21	123	11	SNP	1.000	C	C	165891052	A	C	165891052	3	2	155	1	0	0	0	0	1	0	0	0	16584	72	3	4	534	4	TRIM61	4	165891052	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	10636704	165891052	25263224	72	39460											
NEK1	4750	genome.wustl.edu	37	chr4	170476957	170476957	+	Silent	SNP	T	T	A	0	1	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	tcaggaaaatggtgatgaccTgcagccccataaggaaatcc	14	7	10	10	0	1	2	1	2	0	0	2	4	2	4	4	3	2	1	4	3	4	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr4:170476957T>A	ENST00000439128.2	-	17	2116	c.1476A>T	c.(1474-1476)gcA>gcT	p.A492A	NEK1_ENST00000510533.1_Intron|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000511633.1_Intron|NEK1_ENST00000507142.1_Silent_p.A492A	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	492					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GGTGATGACCTGCAGCCCCAT	0.413																																																	0													107	101	103					4																	170476957		1849	4103	5952	SO:0001819	synonymous_variant	0			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1476A>T	4.37:g.170476957T>A			G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A492	ENST00000439128.2	37	c.1476	CCDS47162.1	4																																																																																			NEK1	-	NULL	ENSG00000137601		0.413	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3	-	0	82	0	T			170476957	-1	tier1	-	no_errors	ENST00000507142	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	A	A	170476957	T	A	170476957	2	1	155	1	0	0	0	0	0	0	0	1	10360	1567	55	5		5	NEK1	4	170476957	Silent	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	4585905	170476957	20677319	73	39461											
ODZ3	55714	genome.wustl.edu	37	chr4	183713770	183713770	+	Missense_Mutation	SNP	T	T	C	0	1	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	agtcctaaagacagtaaaccTccagagtgatggttttattt	13	13	8	7	0	0	3	0	1	0	2	2	3	2	3	3	1	1	2	3	1	5	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr4:183713770T>C	ENST00000511685.1	+	26	6068	c.5945T>C	c.(5944-5946)cTc>cCc	p.L1982P	TENM3_ENST00000406950.2_Missense_Mutation_p.L1982P			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1982					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)										ACAGTAAACCTCCAGAGTGAT	0.403																																																	0													230	220	223					4																	183713770		1913	4126	6039	SO:0001583	missense	0			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.5945T>C	4.37:g.183713770T>C	ENSP00000424226:p.Leu1982Pro		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.L1982P	ENST00000511685.1	37	c.5945	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079281	0.55753	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87729	-2.29;-2.29	4.74	4.74	0.60224	.	.	.	.	.	D	0.93086	0.7799	M	0.81682	2.555	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.93579	0.6911	9	0.54805	T	0.06	.	14.6876	0.69059	0.0:0.0:0.0:1.0	.	1982	Q9P273	TEN3_HUMAN	P	1982	ENSP00000424226:L1982P;ENSP00000385276:L1982P	ENSP00000385276:L1982P	L	+	2	0	ODZ3	183950764	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.798000	0.85924	2.108000	0.64289	0.482000	0.46254	CTC	TENM3	-	NULL	ENSG00000218336		0.403	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0	91	0	T			183713770	1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	C	C	183713770	T	C	183713770	3	2	155	1	0	0	0	0	1	0	0	0	10875	1551	54	4	6043	4	ODZ3	4	183713770	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	13236813	183713770	7440506	74	39462											
PDLIM3	27295	genome.wustl.edu	37	chr4	186435954	186435954	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattggcgagttataggaagCgctcactacctgtcttttgt	9	14	10	8	2	2	0	1	0	1	0	2	2	2	1	1	2	2	2	1	2	5	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr4:186435954C>T	ENST00000284770.5	-	4	404				PDLIM3_ENST00000284767.5_Missense_Mutation_p.A141T|PDLIM3_ENST00000284771.6_Missense_Mutation_p.A141T	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3						actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TTATAGGAAGCGCTCACTACC	0.478																																																	0													143	129	133					4																	186435954		692	1591	2283	SO:0001627	intron_variant	0			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.331-463G>A	4.37:g.186435954C>T			B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.A141T	ENST00000284770.5	37	c.421	CCDS3844.1	4	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463161	0.43736	.	.	ENSG00000154553	ENST00000284771;ENST00000284767	T;T	0.47869	2.06;0.83	6.07	5.16	0.70880	.	.	.	.	.	T	0.34571	0.0902	.	.	.	0.53005	D	0.999967	B;B	0.20550	0.046;0.011	B;B	0.16289	0.015;0.013	T	0.07616	-1.0763	8	0.27082	T	0.32	.	11.8976	0.52665	0.3681:0.6319:0.0:0.0	.	141;141	Q53GG5-3;Q53GG5-2	.;.	T	141	ENSP00000284771:A141T;ENSP00000284767:A141T	ENSP00000284767:A141T	A	-	1	0	PDLIM3	186672948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.094000	0.50227	2.885000	0.99019	0.655000	0.94253	GCT	PDLIM3	-	smart_ZASP	ENSG00000154553		0.478	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	PDLIM3	HGNC	protein_coding	OTTHUMT00000360499.2	-	0	70	0	C	NM_014476		186435954	-1	tier1	-	no_errors	ENST00000284771	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	186435954	C	T	186435954	1	4	155	0	1	0	0	0	0	0	0	0	11720	768	27	1		1	PDLIM3	4	186435954	Intron	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	2722184	186435954	4718322	75	39463											
NKD2	85409	genome.wustl.edu	37	chr5	1032294	1032294	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaatggggaccccaaggagGggcctttccgggaggaccag	9	4	16	12	1	0	0	0	0	0	0	1	4	1	4	6	7	0	0	6	7	2	1	rs370298155		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:1032294G>C	ENST00000296849.5	+	4	398	c.169G>C	c.(169-171)Ggg>Cgg	p.G57R	NKD2_ENST00000537972.1_Missense_Mutation_p.G57R|NKD2_ENST00000274150.4_Missense_Mutation_p.G57R	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	57	Targeting to the basolateral cell membrane.				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)			CCCCAAGGAGGGGCCTTTCCG	0.652																																																	0													60	70	67					5																	1032294		2202	4298	6500	SO:0001583	missense	0			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.169G>C	5.37:g.1032294G>C	ENSP00000296849:p.Gly57Arg		Q96EK8|Q9BSN0	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.G57R	ENST00000296849.5	37	c.169	CCDS3859.1	5	.	.	.	.	.	.	.	.	.	.	G	5.279	0.236886	0.10023	.	.	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.00585	6.39;6.39;6.39	4.2	3.33	0.38152	.	0.325492	0.26180	N	0.025878	T	0.00754	0.0025	M	0.61703	1.905	0.41039	D	0.985218	B;B	0.23735	0.09;0.087	B;B	0.23419	0.046;0.029	T	0.61192	-0.7112	10	0.25751	T	0.34	-0.2579	7.7983	0.29160	0.1187:0.0:0.8813:0.0	.	57;57	Q969F2-2;Q969F2	.;NKD2_HUMAN	R	57	ENSP00000296849:G57R;ENSP00000274150:G57R;ENSP00000440925:G57R	ENSP00000274150:G57R	G	+	1	0	NKD2	1085294	0.999000	0.42202	0.004000	0.12327	0.048000	0.14542	2.755000	0.47540	0.762000	0.33152	0.491000	0.48974	GGG	NKD2	-	NULL	ENSG00000145506		0.652	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2	-	0	104	0	G	NM_033120		1032294	1	tier1	-	no_errors	ENST00000296849	ensembl	human	known	74_37	missense	35.59	38	21	SNP	0.595	C	C	1032294	G	C	1032294	3	2	155	1	0	0	0	0	1	0	0	0	10481	1232	43	5	183	5	NKD2	5	1032294	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09		1032294	179882966	76	39464											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5182272	5182272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatcccacgtactgtacaAgagatccacagagccccatg	12	6	8	15	1	0	2	0	0	0	2	2	3	2	2	5	0	3	2	5	0	3	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:5182272A>G	ENST00000274181.7	+	4	755	c.617A>G	c.(616-618)aAg>aGg	p.K206R	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.K206R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	206					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						GTACTGTACAAGAGATCCACA	0.582																																																	0													54	56	56					5																	5182272		1949	4148	6097	SO:0001583	missense	0			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.617A>G	5.37:g.5182272A>G	ENSP00000274181:p.Lys206Arg		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K206R	ENST00000274181.7	37	c.617	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847249	0.32606	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.64438	0.01;-0.1	5.37	4.2	0.49525	.	0.057908	0.64402	D	0.000003	T	0.64227	0.2579	M	0.81341	2.54	0.49915	D	0.999832	B;P;B	0.35575	0.058;0.51;0.258	B;B;B	0.42798	0.017;0.398;0.228	T	0.59674	-0.7410	10	0.07482	T	0.82	.	10.4972	0.44785	0.9221:0.0:0.0779:0.0	.	206;206;206	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	R	206	ENSP00000274181:K206R;ENSP00000421631:K206R	ENSP00000274181:K206R	K	+	2	0	ADAMTS16	5235272	1.000000	0.71417	0.998000	0.56505	0.006000	0.05464	4.283000	0.58977	0.866000	0.35629	0.528000	0.53228	AAG	ADAMTS16	-	NULL	ENSG00000145536		0.582	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0	35	0	A	NM_139056		5182272	1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	G	G	5182272	A	G	5182272	3	3	155	1	0	0	0	0	1	0	0	0	261	72	3	4	631	4	ADAMTS16	5	5182272	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	4149978	5182272	175732988	77	39465											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5235215	5235215	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccccgggacagtgttgacTtccgtgctgctcagtgtgcc	4	11	13	13	2	1	1	1	1	0	0	3	2	3	2	4	1	3	3	4	1	0	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:5235215T>G	ENST00000274181.7	+	13	2077	c.1939T>G	c.(1939-1941)Ttc>Gtc	p.F647V	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	647	Cys-rich.				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						CAGTGTTGACTTCCGTGCTGC	0.532																																																	0													78	81	80					5																	5235215		1950	4148	6098	SO:0001583	missense	0			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.1939T>G	5.37:g.5235215T>G	ENSP00000274181:p.Phe647Val		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.F647V	ENST00000274181.7	37	c.1939	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	T	19.80	3.895652	0.72639	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.05996	3.36	4.67	4.67	0.58626	.	0.129273	0.53938	D	0.000057	T	0.36690	0.0976	H	0.96833	3.89	0.58432	D	0.999998	P;D	0.71674	0.842;0.998	B;D	0.70016	0.321;0.967	T	0.56469	-0.7974	10	0.87932	D	0	.	13.417	0.60974	0.0:0.0:0.0:1.0	.	647;647	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	V	647	ENSP00000274181:F647V	ENSP00000274181:F647V	F	+	1	0	ADAMTS16	5288215	1.000000	0.71417	0.998000	0.56505	0.520000	0.34377	7.610000	0.82949	1.888000	0.54679	0.533000	0.62120	TTC	ADAMTS16	-	NULL	ENSG00000145536		0.532	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0	77	0	T	NM_139056		5235215	1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	missense	28.77	52	21	SNP	1.000	G	G	5235215	T	G	5235215	3	3	155	1	0	0	0	0	1	0	0	0	261	1609	56	4	1989	4	ADAMTS16	5	5235215	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	52943	5235215	175680045	78	39466											
CDH18	1016	genome.wustl.edu	37	chr5	19747272	19747272	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgtggtatcgtcaatgataAatatagtcccagcaccctct	11	11	7	12	2	2	1	1	1	1	0	4	1	3	1	3	1	1	2	3	1	6	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:19747272A>C	ENST00000507958.1	-	6	1292	c.302T>G	c.(301-303)tTt>tGt	p.F101C	CDH18_ENST00000511273.1_Missense_Mutation_p.F101C|CDH18_ENST00000274170.4_Missense_Mutation_p.F101C|CDH18_ENST00000502796.1_Missense_Mutation_p.F101C|CDH18_ENST00000506372.1_Missense_Mutation_p.F101C|CDH18_ENST00000382275.1_Missense_Mutation_p.F101C			Q13634	CAD18_HUMAN	cadherin 18, type 2	101	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)			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)					GTCAATGATAAATATAGTCCC	0.428																																																	0													174	156	162					5																	19747272		2203	4300	6503	SO:0001583	missense	0			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.302T>G	5.37:g.19747272A>C	ENSP00000425093:p.Phe101Cys		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F101C	ENST00000507958.1	37	c.302	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379401	0.82682	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.34	5.34	0.76211	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91002	0.7170	H	0.99368	4.535	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94528	0.7733	9	.	.	.	.	14.1522	0.65392	1.0:0.0:0.0:0.0	.	101;101	B4DHG6;Q13634	.;CAD18_HUMAN	C	101;101;101;101;101;101;47;101	ENSP00000371710:F101C;ENSP00000425093:F101C;ENSP00000274170:F101C;ENSP00000424931:F101C;ENSP00000422138:F101C;ENSP00000427383:F47C;ENSP00000425854:F101C	.	F	-	2	0	CDH18	19783029	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.870000	0.92336	2.024000	0.59613	0.482000	0.46254	TTT	CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000145526		0.428	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	-	0	55	0	A	NM_004934		19747272	-1	tier1	-	no_errors	ENST00000274170	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	C	C	19747272	A	C	19747272	3	2	155	1	0	0	0	0	1	0	0	0	3110	14	1	4	2110	4	CDH18	5	19747272	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	14512057	19747272	161167988	79	39467											
ITGA1	3672	genome.wustl.edu	37	chr5	52233285	52233285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaagctgtcaatttcattcCccaatatgacatcaaatggt	13	14	5	9	0	3	1	3	1	0	0	4	1	4	1	2	1	1	1	2	1	5	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:52233285C>A	ENST00000282588.6	+	24	3477	c.3019C>A	c.(3019-3021)Ccc>Acc	p.P1007T	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1007					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)				AATTTCATTCCCCAATATGAC	0.363																																																	0													226	213	218					5																	52233285		2203	4300	6503	SO:0001583	missense	0			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.3019C>A	5.37:g.52233285C>A	ENSP00000282588:p.Pro1007Thr		B2RNU0	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.P1007T	ENST00000282588.6	37	c.3019	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201387	0.79015	.	.	ENSG00000213949	ENST00000282588	D	0.88124	-2.34	5.69	5.69	0.88448	Integrin alpha-2 (1);	0.177749	0.49916	D	0.000140	D	0.91600	0.7346	L	0.50333	1.59	0.54753	D	0.999986	D	0.89917	1.0	D	0.77557	0.99	D	0.92077	0.5669	10	0.87932	D	0	.	16.731	0.85435	0.0:1.0:0.0:0.0	.	1007	P56199	ITA1_HUMAN	T	1007	ENSP00000282588:P1007T	ENSP00000282588:P1007T	P	+	1	0	ITGA1	52269042	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	4.586000	0.60984	2.688000	0.91661	0.585000	0.79938	CCC	ITGA1	-	pfam_Integrin_alpha-2	ENSG00000213949		0.363	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3		0	99	0	C	NM_181501		52233285	1			no_errors	ENST00000282588	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	52233285	C	A	52233285	3	1	155	1	0	0	0	0	1	0	0	0	7899	623	22	3	3113	3	ITGA1	5	52233285	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	32486013	52233285	128681975	80	39468											
ITGA1	3672	genome.wustl.edu	37	chr5	52240786	52240786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcagtcatatttttccaGcttaaatcttactataaggg	11	18	5	7	0	3	0	2	0	1	0	4	0	4	0	1	1	2	1	1	1	6	9			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:52240786G>T	ENST00000282588.6	+	27	3757	c.3299G>T	c.(3298-3300)aGc>aTc	p.S1100I	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1100					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)				TATTTTTCCAGCTTAAATCTT	0.333																																																	0													96	107	103					5																	52240786		2203	4299	6502	SO:0001583	missense	0			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.3299G>T	5.37:g.52240786G>T	ENSP00000282588:p.Ser1100Ile		B2RNU0	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S1100I	ENST00000282588.6	37	c.3299	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582568	0.65992	.	.	ENSG00000213949	ENST00000282588	T	0.46063	0.88	5.63	5.63	0.86233	.	0.121096	0.85682	D	0.000000	T	0.33990	0.0882	L	0.50333	1.59	0.45762	D	0.998652	P	0.43973	0.823	B	0.32090	0.14	T	0.14337	-1.0476	10	0.22706	T	0.39	.	16.9486	0.86237	0.0:0.0:1.0:0.0	.	1100	P56199	ITA1_HUMAN	I	1100	ENSP00000282588:S1100I	ENSP00000282588:S1100I	S	+	2	0	ITGA1	52276543	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.935000	0.56560	2.797000	0.96272	0.655000	0.94253	AGC	ITGA1	-	NULL	ENSG00000213949		0.333	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3		0	64	0	G	NM_181501		52240786	1			no_errors	ENST00000282588	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	52240786	G	T	52240786	3	4	155	1	0	0	0	0	1	0	0	0	7899	971	34	3	3405	3	ITGA1	5	52240786	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	7501	52240786	128674474	81	39469											
ANKRD32	84250	genome.wustl.edu	37	chr5	94024337	94024337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttactaatgctgaatggtActaaacaaaaacaagtcgaa	18	9	6	8	1	0	1	0	1	0	0	1	2	0	1	1	1	5	2	1	1	10	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:94024337A>G	ENST00000265140.5	+	17	2667	c.2248A>G	c.(2248-2250)Act>Gct	p.T750A		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	750						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)		GCTGAATGGTACTAAACAAAA	0.433																																																	0													119	117	118					5																	94024337		2203	4300	6503	SO:0001583	missense	0			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.2248A>G	5.37:g.94024337A>G	ENSP00000265140:p.Thr750Ala		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T750A	ENST00000265140.5	37	c.2248	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	A	0.102	-1.151447	0.01700	.	.	ENSG00000133302	ENST00000265140	T	0.37752	1.18	5.36	3.56	0.40772	.	0.414647	0.25025	N	0.033729	T	0.15305	0.0369	N	0.03608	-0.345	0.24394	N	0.99473	B	0.02656	0.0	B	0.01281	0.0	T	0.22068	-1.0227	10	0.11182	T	0.66	.	11.5698	0.50826	0.1488:0.0:0.8512:0.0	.	750	Q9BQI6	ANR32_HUMAN	A	750	ENSP00000265140:T750A	ENSP00000265140:T750A	T	+	1	0	ANKRD32	94050093	0.995000	0.38212	1.000000	0.80357	0.228000	0.25075	1.927000	0.40094	0.728000	0.32382	-0.472000	0.04984	ACT	ANKRD32	-	NULL	ENSG00000133302		0.433	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	-	0	70	0	A	NM_032290		94024337	1	tier1	-	no_errors	ENST00000265140	ensembl	human	known	74_37	missense	34.33	44	23	SNP	1.000	G	G	94024337	A	G	94024337	3	3	155	1	0	0	0	0	1	0	0	0	660	391	14	4	2310	4	ANKRD32	5	94024337	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	41783551	94024337	86890923	82	39470											
FBN2	2201	genome.wustl.edu	37	chr5	127647076	127647076	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtgttgatgcagtttcCaccctggcagagacctggta	11	10	11	9	0	0	2	0	1	0	1	1	3	1	2	3	2	1	5	3	2	3	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:127647076C>A	ENST00000508053.1	-	45	5964	c.4990G>T	c.(4990-4992)Gga>Tga	p.G1664*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.G1664*			P35556	FBN2_HUMAN	fibrillin 2	1664	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATGCAGTTTCCACCCTGGCAG	0.463																																																	0													87	70	76					5																	127647076		2203	4300	6503	SO:0001587	stop_gained	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4990G>T	5.37:g.127647076C>A	ENSP00000424571:p.Gly1664*		B4DU01|Q59ES6	Nonsense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G1664*	ENST00000508053.1	37	c.4990	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	48	14.894327	0.99814	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9654	0.92694	0.0:1.0:0.0:0.0	.	.	.	.	X	1664	.	ENSP00000262464:G1664X	G	-	1	0	FBN2	127674975	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.609000	0.82925	2.732000	0.93576	0.591000	0.81541	GGA	FBN2	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000138829		0.463	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	106	0	C	NM_001999		127647076	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	nonsense	29.69	45	19	SNP	1.000	A	A	127647076	C	A	127647076	4	1	155	1	0	0	0	0	0	1	0	0	5725	603	21	3	3856	3	FBN2	5	127647076	Nonsense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	33622739	127647076	53268184	83	39471											
BRD8	10902	genome.wustl.edu	37	chr5	137476531	137476531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccatggtgcgaatccgacCcttagagagatttctcttca	9	11	10	11	2	2	2	1	0	1	2	4	5	3	2	3	2	1	0	3	2	2	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:137476531C>G	ENST00000254900.5	-	26	3849	c.3478G>C	c.(3478-3480)Ggt>Cgt	p.G1160R	NME5_ENST00000265191.2_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1160	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CGAATCCGACCCTTAGAGAGA	0.433																																																	0													261	257	258					5																	137476531		2203	4300	6503	SO:0001583	missense	0			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3478G>C	5.37:g.137476531C>G	ENSP00000254900:p.Gly1160Arg		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G1160R	ENST00000254900.5	37	c.3478	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048516	0.93740	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.33865	1.39;1.39	5.96	5.96	0.96718	Bromodomain (5);	0.000000	0.48767	D	0.000161	T	0.59905	0.2228	M	0.66506	2.035	0.80722	D	1	D	0.61080	0.989	D	0.71870	0.975	T	0.52771	-0.8531	10	0.38643	T	0.18	-10.2484	19.4101	0.94667	0.0:1.0:0.0:0.0	.	1160	Q9H0E9	BRD8_HUMAN	R	1160;266	ENSP00000254900:G1160R;ENSP00000392646:G266R	ENSP00000254900:G1160R	G	-	1	0	BRD8	137504430	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	6.090000	0.71397	2.832000	0.97577	0.655000	0.94253	GGT	BRD8	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000112983		0.433	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	-	0	49	0	C	NM_006696		137476531	-1	tier1	-	no_errors	ENST00000254900	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	G	G	137476531	C	G	137476531	3	3	155	1	0	0	0	0	1	0	0	0	1510	623	22	5	237	5	BRD8	5	137476531	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	9829455	137476531	43438729	84	39472											
GFRA3	2676	genome.wustl.edu	37	chr5	137593535	137593535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gctgcctgaggcagacgtggCgctggcagtggggcccggag	5	5	20	11	3	0	2	0	1	0	1	0	3	0	3	2	6	1	4	2	6	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:137593535C>T	ENST00000274721.3	-	4	824	c.578G>A	c.(577-579)cGc>cAc	p.R193H	GFRA3_ENST00000378362.3_Missense_Mutation_p.R162H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	193					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCAGACGTGGCGCTGGCAGTG	0.662																																																	0													25	27	26					5																	137593535		2203	4299	6502	SO:0001583	missense	0			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.578G>A	5.37:g.137593535C>T	ENSP00000274721:p.Arg193His		B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.R193H	ENST00000274721.3	37	c.578	CCDS4201.1	5	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144366	0.57044	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.65364	-0.15;-0.15	4.81	2.88	0.33553	GDNF/GAS1 (2);	0.123300	0.53938	D	0.000045	T	0.73442	0.3587	M	0.80332	2.49	0.39815	D	0.972754	D;D	0.76494	0.997;0.999	P;P	0.61874	0.7;0.895	T	0.75243	-0.3386	10	0.62326	D	0.03	-24.387	7.4483	0.27223	0.0:0.7087:0.1858:0.1055	.	162;193	O60609-2;O60609	.;GFRA3_HUMAN	H	193;162	ENSP00000274721:R193H;ENSP00000367613:R162H	ENSP00000274721:R193H	R	-	2	0	GFRA3	137621434	0.522000	0.26266	0.919000	0.36401	0.434000	0.31775	0.204000	0.17335	1.018000	0.39521	0.655000	0.94253	CGC	GFRA3	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt	ENSG00000146013		0.662	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	-	0	36	0	C	NM_001496		137593535	-1	tier1	-	no_errors	ENST00000274721	ensembl	human	known	74_37	missense	28.57	20	8	SNP	0.547	T	T	137593535	C	T	137593535	3	4	155	1	0	0	0	0	1	0	0	0	6375	768	27	1	644	1	GFRA3	5	137593535	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	117004	137593535	43321725	85	39473											
PCDHA7	56141	genome.wustl.edu	37	chr5	140216110	140216110	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagtctgttggtgcttacCctgctgctgtacacggcgtt	4	14	11	12	2	1	0	0	0	1	0	2	0	2	0	2	2	5	6	2	2	2	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:140216110C>T	ENST00000525929.1	+	1	2142	c.2142C>T	c.(2140-2142)acC>acT	p.T714T	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.T714T|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	714					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGCTTACCCTGCTGCTGT	0.617																																					NSCLC(160;258 2013 5070 22440 28951)												0													114	95	102					5																	140216110		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2142C>T	5.37:g.140216110C>T			O75282	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T714	ENST00000525929.1	37	c.2142	CCDS54918.1	5																																																																																			PCDHA7	-	NULL	ENSG00000204963		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0	100	0	C	NM_018910		140216110	1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	silent	32.26	42	20	SNP	0.015	T	T	140216110	C	T	140216110	2	4	155	1	0	0	0	0	0	0	0	1	11568	610	22	3		3	PCDHA7	5	140216110	Silent	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	2622575	140216110	40699150	86	39474											
MFAP3	4238	genome.wustl.edu	37	chr5	153432941	153432943	+	In_Frame_Del	DEL	GAG	GAG	-																															taaactgtcgagcctttgttGaggagatgtttgaggctgtg																										TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:153432941_153432943delGAG	ENST00000436816.1	+	3	976_978	c.757_759delGAG	c.(757-759)gagdel	p.E254del	MFAP3_ENST00000439768.2_In_Frame_Del_p.E108del|MFAP3_ENST00000322602.5_In_Frame_Del_p.E254del	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	254					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGCCTTTGTTGAGGAGATGTTTG	0.448																																																	0																																										SO:0001651	inframe_deletion	0				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"Immunoglobulin superfamily / I-set domain containing"	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.757_759delGAG	5.37:g.153432944_153432946delGAG	ENSP00000409933:p.Glu254del		B2RDK0|B4DKA1|Q9NXA7	In_Frame_Del	DEL	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E254in_frame_del	ENST00000436816.1	37	c.757_759	CCDS4324.1	5																																																																																			MFAP3	-	NULL	ENSG00000037749		0.448	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3	HGNC	protein_coding	OTTHUMT00000252457.2		0	39	0	GAG	NM_005927		153432943	1	tier1		no_errors	ENST00000322602	ensembl	human	known	74_37	in_frame_del	29.55	31	13	DEL	1.000:1.000:1.000	-	-	153432943	GAG	-	153432941	7	5	155	1	0	1	0	1	0	0	0	0	9553	1291	45	0	763	0	MFAP3	5	153432941	In_Frame_Del	DEL	GAG	TCGA-V5-A7RB-01A-11D-A351-09	13216831	153432941	27482319	87	39475											
ODZ2	57451	genome.wustl.edu	37	chr5	167489111	167489111	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagacagtggtgaagcagaAgttggtcggcgggtaacaca	13	7	15	6	2	0	3	0	1	0	2	1	3	0	3	0	4	2	3	0	4	4	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:167489111A>C	ENST00000518659.1	+	7	1395	c.1356A>C	c.(1354-1356)gaA>gaC	p.E452D	TENM2_ENST00000403607.2_Missense_Mutation_p.E285D|TENM2_ENST00000545108.1_Missense_Mutation_p.E452D|TENM2_ENST00000519204.1_Missense_Mutation_p.E331D|TENM2_ENST00000520394.1_Missense_Mutation_p.E220D	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	452					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)										GTGAAGCAGAAGTTGGTCGGC	0.453																																																	0													86	87	86					5																	167489111		1855	4096	5951	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1356A>C	5.37:g.167489111A>C	ENSP00000429430:p.Glu452Asp		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E452D	ENST00000518659.1	37	c.1356		5	.	.	.	.	.	.	.	.	.	.	A	3.418	-0.118699	0.06838	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.63	1.9	0.25705	.	0.161689	0.53938	N	0.000059	T	0.10981	0.0268	L	0.27053	0.805	0.37264	D	0.907111	B;P;B	0.41131	0.004;0.739;0.002	B;B;B	0.39119	0.012;0.291;0.016	T	0.18713	-1.0328	10	0.02654	T	1	.	9.3017	0.37849	0.6508:0.0:0.3492:0.0	.	452;220;331	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	D	452;452;331;220;285	ENSP00000429430:E452D;ENSP00000438635:E452D;ENSP00000428964:E331D;ENSP00000427874:E220D;ENSP00000384905:E285D	ENSP00000384905:E285D	E	+	3	2	ODZ2	167421689	1.000000	0.71417	0.984000	0.44739	0.884000	0.51177	2.382000	0.44345	0.423000	0.26033	0.533000	0.62120	GAA	TENM2	-	NULL	ENSG00000145934		0.453	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	-	0	70	0	A	NM_001122679		167489111	1	tier1	-	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	54.90	23	28	SNP	1.000	C	C	167489111	A	C	167489111	3	2	155	1	0	0	0	0	1	0	0	0	10874	69	3	4	1382	4	ODZ2	5	167489111	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	14056170	167489111	13426149	88	39476											
PANK3	79646	genome.wustl.edu	37	chr5	167990909	167990909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctagatgctacagccCaacctggcaaaccaaatctt	13	9	5	14	0	1	1	0	0	1	1	1	1	1	1	4	1	6	2	4	1	6	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:167990909C>A	ENST00000239231.6	-	4	1113	c.797G>T	c.(796-798)tGg>tTg	p.W266L	MIR103A1_ENST00000362165.1_RNA|PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	266					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			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)		TGCTACAGCCCAACCTGGCAA	0.378																																																	0													101	105	104					5																	167990909		2203	4300	6503	SO:0001583	missense	0			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.797G>T	5.37:g.167990909C>A	ENSP00000239231:p.Trp266Leu		D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.W266L	ENST00000239231.6	37	c.797	CCDS4368.1	5	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634266	0.47049	.	.	ENSG00000120137	ENST00000239231	D	0.99474	-5.97	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	L	0.54323	1.7	0.47819	D	0.999529	B	0.20671	0.047	B	0.30646	0.118	D	0.98122	1.0426	10	0.72032	D	0.01	-5.5837	17.4478	0.87583	0.0:1.0:0.0:0.0	.	266	Q9H999	PANK3_HUMAN	L	266	ENSP00000239231:W266L	ENSP00000239231:W266L	W	-	2	0	PANK3	167923487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.477000	0.45180	2.432000	0.82394	0.591000	0.81541	TGG	PANK3	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000120137		0.378	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK3	HGNC	protein_coding	OTTHUMT00000252793.2		0	64	0	C	NM_024594		167990909	-1			no_errors	ENST00000239231	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	167990909	C	A	167990909	3	1	155	1	0	0	0	0	1	0	0	0	11457	595	21	3	331	3	PANK3	5	167990909	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	501798	167990909	12924351	89	39477											
DOCK2	1794	genome.wustl.edu	37	chr5	169423170	169423170	+	Splice_Site	SNP	T	T	C	0	1	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	cacgaactttgagttccaggTgagtataagccaccagagct	12	9	10	10	1	0	3	0	2	0	1	1	4	1	3	3	1	3	3	3	1	3	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:169423170T>C	ENST00000256935.8	+	30	3152		c.e30+2		DOCK2_ENST00000523351.1_Splice_Site|DOCK2_ENST00000520908.1_Splice_Site|DOCK2_ENST00000540750.1_Splice_Site	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						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)			GAGTTCCAGGTGAGTATAAGC	0.502																																																	0													77	71	73					5																	169423170		2203	4300	6503	SO:0001630	splice_region_variant	0			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.3072+2T>C	5.37:g.169423170T>C			Q2M3I0|Q96AK7	Splice_Site	SNP	-	e30+2	ENST00000256935.8	37	c.3072+2	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	T	12.81	2.050009	0.36181	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5748	0.61868	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK2	169355748	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	5.843000	0.69424	2.093000	0.63338	0.523000	0.50628	.	DOCK2	-	-	ENSG00000134516		0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	74	0	T	NM_004946	Intron	169423170	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	splice_site	22.39	52	15	SNP	1.000	C	C	169423170	T	C	169423170	5	2	155	1	0	0	0	0	0	0	1	0	4701	1710	59	4	3192	4	DOCK2	5	169423170	Splice_Site	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	1432261	169423170	11492090	90	39478											
BOD1	91272	genome.wustl.edu	37	chr5	173043312	173043312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcgggtcgccgggaggcagcGaggccgggttgatggggcca	5	4	22	10	5	0	1	0	1	0	0	1	3	0	2	3	7	1	2	3	7	0	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr5:173043312G>C	ENST00000311086.4	-	1	351	c.128C>G	c.(127-129)tCg>tGg	p.S43W	BOD1_ENST00000471339.1_5'UTR|BOD1_ENST00000480951.1_Missense_Mutation_p.S43W|BOD1_ENST00000285908.5_Missense_Mutation_p.S43W	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	43					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GGGAGGCAGCGAGGCCGGGTT	0.726																																																	0													2	3	3					5																	173043312		1767	3756	5523	SO:0001583	missense	0			AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"biorientation defective 1"		"family with sequence similarity 44, member B"	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.128C>G	5.37:g.173043312G>C	ENSP00000309644:p.Ser43Trp		B4DXH8|Q9BTW1	Missense_Mutation	SNP	NULL	p.S43W	ENST00000311086.4	37	c.128	CCDS4389.1	5	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579184	0.65878	.	.	ENSG00000145919	ENST00000311086;ENST00000285908;ENST00000477985;ENST00000480951	T;T	0.26957	1.7;1.7	4.21	4.21	0.49690	.	0.449713	0.24172	N	0.040898	T	0.36303	0.0962	N	0.19112	0.55	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.937	T	0.39563	-0.9608	10	0.87932	D	0	-1.9858	16.3621	0.83271	0.0:0.0:1.0:0.0	.	43;43	Q96IK1-2;Q96IK1	.;BOD1_HUMAN	W	43;43;17;43	ENSP00000309644:S43W;ENSP00000285908:S43W	ENSP00000285908:S43W	S	-	2	0	BOD1	172975918	0.994000	0.37717	1.000000	0.80357	0.946000	0.59487	4.188000	0.58351	2.158000	0.67659	0.563000	0.77884	TCG	BOD1	-	NULL	ENSG00000145919		0.726	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1	HGNC	protein_coding	OTTHUMT00000252963.1	-	0	18	0	G	NM_138369		173043312	-1	tier1	-	no_errors	ENST00000311086	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	C	C	173043312	G	C	173043312	3	2	155	1	0	0	0	0	1	0	0	0	1484	1059	37	5	473	5	BOD1	5	173043312	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	3620142	173043312	7871948	91	39479											
IRF4	3662	genome.wustl.edu	37	chr6	401596	401596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaggaaaaacattgagaaGctgctgagccacctggagag	15	5	13	8	0	0	4	0	2	0	3	0	7	0	5	2	2	4	2	2	2	3	1	rs1050973		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr6:401596G>C	ENST00000380956.4	+	7	1044	c.918G>C	c.(916-918)aaG>aaC	p.K306N		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	306				K -> N (in Ref. 2; AAB37258). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ACATTGAGAAGCTGCTGAGCC	0.607			T	IGH@	MM																																			Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	0													53	45	48					6																	401596		2203	4300	6503	SO:0001583	missense	0			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.918G>C	6.37:g.401596G>C	ENSP00000370343:p.Lys306Asn		Q5VUI7|Q99660	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.K306N	ENST00000380956.4	37	c.918	CCDS4469.1	6	.	.	.	.	.	.	.	.	.	.	G	9.016	0.983629	0.18889	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.94497	-3.44	5.76	0.569	0.17340	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.306608	0.39834	N	0.001254	D	0.89389	0.6701	M	0.62723	1.935	0.44188	D	0.997	B;B;B;P	0.41041	0.218;0.36;0.182;0.736	B;B;B;B	0.44278	0.275;0.223;0.18;0.445	D	0.84843	0.0809	10	0.30854	T	0.27	-33.023	10.4756	0.44663	0.6778:0.0:0.3222:0.0	rs1050973	306;336;305;306	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	N	306;335	ENSP00000370343:K306N	ENSP00000370343:K306N	K	+	3	2	IRF4	346596	0.975000	0.34042	0.997000	0.53966	0.179000	0.23085	0.771000	0.26633	-0.022000	0.13986	-0.150000	0.13652	AAG	IRF4	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000137265		0.607	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF4	HGNC	protein_coding	OTTHUMT00000043638.1	-	0	51	0	G			401596	1	tier1	rs1050973	no_errors	ENST00000380956	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.933	C	C	401596	G	C	401596	3	2	155	1	0	0	0	0	1	0	0	0	7859	962	34	5	940	5	IRF4	6	401596	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09		401596	170713471	92	39480											
ZNF192	7745	genome.wustl.edu	37	chr6	28121231	28121231	+	Silent	SNP	A	A	T	1	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	aaagccttcagtcagaacacAggcctgattctgcaccagag	13	7	9	12	0	3	3	2	1	1	2	3	3	3	3	3	1	3	1	3	1	2	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr6:28121231A>T	ENST00000330236.6	+	6	1357	c.1173A>T	c.(1171-1173)acA>acT	p.T391T	ZKSCAN8_ENST00000457389.2_Silent_p.T391T	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	391					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)										GTCAGAACACAGGCCTGATTC	0.493																																																	0													146	150	149					6																	28121231		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1173A>T	6.37:g.28121231A>T			A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.T391	ENST00000330236.6	37	c.1173	CCDS4645.1	6																																																																																			ZKSCAN8	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198315		0.493	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN8	HGNC	protein_coding	OTTHUMT00000040178.2	-	0	27	0	A			28121231	1	tier1	-	no_errors	ENST00000330236	ensembl	human	known	74_37	silent	35.90	25	14	SNP	0.987	T	T	28121231	A	T	28121231	2	4	155	1	0	0	0	0	0	0	0	1	17804	175	7	5		5	ZNF192	6	28121231	Silent	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	27719635	28121231	142993836	93	39481											
NKAPL	222698	genome.wustl.edu	37	chr6	28227240	28227240	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	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	cggggagcccaccatccccgCagagcagatgttcctcttgg	7	7	12	15	2	1	2	0	0	1	2	3	3	3	3	5	3	2	3	5	3	0	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr6:28227240C>T	ENST00000343684.3	+	1	143	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	31										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						ACCATCCCCGCAGAGCAGATG	0.657																																																	0													38	37	37					6																	28227240		2203	4299	6502	SO:0001587	stop_gained	0			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.91C>T	6.37:g.28227240C>T	ENSP00000345716:p.Gln31*		Q3MIV1|Q9H4Q7	Nonsense_Mutation	SNP	pfam_DUF926	p.Q31*	ENST00000343684.3	37	c.91	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689150	0.48097	.	.	ENSG00000189134	ENST00000343684	.	.	.	4.11	-0.0297	0.13917	.	0.859058	0.09901	N	0.741022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-2.47	0.7881	0.01052	0.2032:0.3943:0.1992:0.2033	.	.	.	.	X	31	.	ENSP00000345716:Q31X	Q	+	1	0	NKAPL	28335219	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.446000	0.21694	0.166000	0.19597	0.655000	0.94253	CAG	NKAPL	-	NULL	ENSG00000189134		0.657	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	-	0	88	0	C			28227240	1	tier1	-	no_errors	ENST00000343684	ensembl	human	known	74_37	nonsense	23.19	53	16	SNP	0.000	T	T	28227240	C	T	28227240	4	4	155	1	0	0	0	0	0	1	0	0	10479	711	25	3	93	3	NKAPL	6	28227240	Nonsense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	106009	28227240	142887827	94	39482											
ENPP4	22875	genome.wustl.edu	37	chr6	46107601	46107601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgtggctaattccatgtAtgatgcagtcacaaagaaac	14	11	8	8	0	1	2	1	1	0	1	2	2	2	2	1	1	2	3	1	1	4	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr6:46107601A>G	ENST00000321037.4	+	2	511	c.281A>G	c.(280-282)tAt>tGt	p.Y94C		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	94					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						AATTCCATGTATGATGCAGTC	0.383																																																	0													86	77	80					6																	46107601		2203	4299	6502	SO:0001583	missense	0			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.281A>G	6.37:g.46107601A>G	ENSP00000318066:p.Tyr94Cys		A8K5G1|Q7L2N1	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.Y94C	ENST00000321037.4	37	c.281	CCDS34468.1	6	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160148	0.57368	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.76968	-1.06	5.97	3.42	0.39159	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.162257	0.56097	D	0.000025	D	0.86585	0.5968	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.88639	0.3174	10	0.72032	D	0.01	-20.376	11.2702	0.49133	0.757:0.0:0.0:0.243	.	94	Q9Y6X5	ENPP4_HUMAN	C	94	ENSP00000318066:Y94C	ENSP00000318066:Y94C	Y	+	2	0	ENPP4	46215560	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.140000	0.50585	1.029000	0.39812	0.533000	0.62120	TAT	ENPP4	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000001561		0.383	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP4	HGNC	protein_coding	OTTHUMT00000040777.2	-	0	38	0	A			46107601	1	tier1	-	no_errors	ENST00000321037	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	G	G	46107601	A	G	46107601	3	3	155	1	0	0	0	0	1	0	0	0	5148	449	16	4	283	4	ENPP4	6	46107601	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	17880361	46107601	125007466	95	39483											
KHDRBS2	202559	genome.wustl.edu	37	chr6	62995778	62995778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccttctgccaaaaggcGcgacgcatgcacaaaagatg	13	6	9	13	3	1	1	0	0	1	1	1	2	1	1	3	1	3	2	3	1	5	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr6:62995778G>A	ENST00000281156.4	-	1	354	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	26					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GCCAAAAGGCGCGACGCATGC	0.567																																																	0													114	87	96					6																	62995778		2203	4300	6503	SO:0001583	missense	0			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.76C>T	6.37:g.62995778G>A	ENSP00000281156:p.Arg26Cys		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.R26C	ENST00000281156.4	37	c.76	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320909	0.81469	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.55760	0.5	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	T	0.66304	-0.5957	10	0.87932	D	0	.	14.7163	0.69272	0.0:0.0:1.0:0.0	.	26	Q5VWX1	KHDR2_HUMAN	C	26	ENSP00000281156:R26C	ENSP00000281156:R26C	R	-	1	0	KHDRBS2	63053737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.569000	0.82380	2.543000	0.85770	0.555000	0.69702	CGC	KHDRBS2	-	NULL	ENSG00000112232		0.567	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2	-	0	60	0	G	NM_152688		62995778	-1	tier1	-	no_errors	ENST00000281156	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	A	A	62995778	G	A	62995778	3	1	155	1	0	0	0	0	1	0	0	0	8174	1087	38	1	1009	1	KHDRBS2	6	62995778	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	16888177	62995778	108119289	96	39484											
MOXD1	26002	genome.wustl.edu	37	chr6	132645151	132645151	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atggtatggaagaggctcacCcagaggccagcctcaatcac	12	6	11	12	0	3	2	3	0	0	2	3	3	3	3	3	4	1	2	3	4	3	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr6:132645151C>G	ENST00000367963.3	-	7	1150	c.1032G>C	c.(1030-1032)tgG>tgC	p.W344C	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.W276C	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	344						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGAGGCTCACCCAGAGGCCAG	0.478																																																	0													122	121	122					6																	132645151		2203	4300	6503	SO:0001583	missense	0			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1032G>C	6.37:g.132645151C>G	ENSP00000356940:p.Trp344Cys		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.W344C	ENST00000367963.3	37	c.1032	CCDS5152.2	6	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228938	0.58777	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.76186	-1.0;-1.0	5.75	5.75	0.90469	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.85130	0.95;0.997	T	0.76528	-0.2926	10	0.38643	T	0.18	-11.9947	19.9341	0.97130	0.0:1.0:0.0:0.0	.	344;276	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	C	344;276	ENSP00000356940:W344C;ENSP00000336998:W276C	ENSP00000336998:W276C	W	-	3	0	MOXD1	132686844	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.557000	0.73937	2.711000	0.92665	0.563000	0.77884	TGG	MOXD1	-	superfamily_PHM/PNGase_F_dom,prints_Dopamine_b_mOase	ENSG00000079931		0.478	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	HGNC	protein_coding	OTTHUMT00000125837.1	-	0	37	0	C	NM_015529		132645151	-1	tier1	-	no_errors	ENST00000367963	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	G	G	132645151	C	G	132645151	3	3	155	1	0	0	0	0	1	0	0	0	9758	624	22	5	833	5	MOXD1	6	132645151	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	69649373	132645151	38469916	97	39485											
SYNJ2	8871	genome.wustl.edu	37	chr6	158483096	158483096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttccatcagtttgccaaaGgtgggaagctagagaaattg	13	10	11	7	0	1	1	1	0	0	1	2	3	2	2	2	2	2	2	2	2	4	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr6:158483096G>T	ENST00000355585.4	+	8	1102	c.1027G>T	c.(1027-1029)Ggt>Tgt	p.G343C	SYNJ2_ENST00000367122.2_Missense_Mutation_p.G343C|SYNJ2_ENST00000367121.3_Missense_Mutation_p.G343C|SYNJ2_ENST00000449859.2_Missense_Mutation_p.G271C	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	343	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTTTGCCAAAGGTGGGAAGCT	0.537																																																	0													204	205	205					6																	158483096		2203	4300	6503	SO:0001583	missense	0			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.1027G>T	6.37:g.158483096G>T	ENSP00000347792:p.Gly343Cys		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.G343C	ENST00000355585.4	37	c.1027	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772824	0.90108	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;T	0.60548	0.18;0.18;0.18;0.38	5.12	5.12	0.69794	Synaptojanin, N-terminal (2);	0.000000	0.64402	D	0.000006	D	0.83403	0.5247	H	0.97415	4	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	D	0.89649	0.3868	10	0.87932	D	0	.	18.63	0.91357	0.0:0.0:1.0:0.0	.	271;343;343;343	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	C	343;343;343;271	ENSP00000356089:G343C;ENSP00000356088:G343C;ENSP00000347792:G343C;ENSP00000388371:G271C	ENSP00000347792:G343C	G	+	1	0	SYNJ2	158403084	1.000000	0.71417	0.997000	0.53966	0.893000	0.52053	7.541000	0.82084	2.407000	0.81776	0.456000	0.33151	GGT	SYNJ2	-	pfam_Syja_N,pfscan_Syja_N	ENSG00000078269		0.537	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	-	0	64	0	G			158483096	1	tier1	-	no_errors	ENST00000355585	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	158483096	G	T	158483096	3	4	155	1	0	0	0	0	1	0	0	0	15500	1000	35	3	1057	3	SYNJ2	6	158483096	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	25837945	158483096	12631971	98	39486											
FNDC1	84624	genome.wustl.edu	37	chr6	159654479	159654479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaccgccacgcgtcccctGctcgtccgcccgcagcacgg	5	4	11	21	7	0	1	0	0	0	1	3	1	2	1	6	1	2	3	6	1	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr6:159654479G>T	ENST00000297267.9	+	11	3135	c.2935G>T	c.(2935-2937)Gct>Tct	p.A979S	FNDC1_ENST00000340366.6_Missense_Mutation_p.A916S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	979					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)		CGCGTCCCCTGCTCGTCCGCC	0.667																																																	0													33	40	38					6																	159654479		2192	4285	6477	SO:0001583	missense	0			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.2935G>T	6.37:g.159654479G>T	ENSP00000297267:p.Ala979Ser		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A979S	ENST00000297267.9	37	c.2935	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.159|5.159	0.214846|0.214846	0.09810|0.09810	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.09163|.	3.01;3.84|.	3.2|3.2	1.32|1.32	0.21799|0.21799	.|.	2.025790|.	0.01986|.	N|.	0.045164|.	T|T	0.16171|0.16171	0.0389|0.0389	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.25809|.	0.135;0.048|.	B;B|.	0.32211|.	0.084;0.142|.	T|T	0.28299|0.28299	-1.0048|-1.0048	10|5	0.09084|.	T|.	0.74|.	-1.3636|-1.3636	11.2961|11.2961	0.49280|0.49280	0.0:0.3513:0.6487:0.0|0.0:0.3513:0.6487:0.0	.|.	916;979|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	S|F	979;916|874	ENSP00000297267:A979S;ENSP00000342460:A916S|.	ENSP00000297267:A979S|.	A|C	+|+	1|2	0|0	FNDC1|FNDC1	159574469|159574469	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	0.635000|0.635000	0.24629|0.24629	0.038000|0.038000	0.15604|0.15604	-1.358000|-1.358000	0.01219|0.01219	GCT|TGC	FNDC1	-	NULL	ENSG00000164694		0.667	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3		0	45	0	G	NM_032532		159654479	1			no_errors	ENST00000297267	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.000	T	T	159654479	G	T	159654479	3	4	155	1	0	0	0	0	1	0	0	0	5990	1319	46	3	2977	3	FNDC1	6	159654479	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1171383	159654479	11460588	99	39487											
PDE10A	10846	genome.wustl.edu	37	chr6	165848801	165848801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtggtgccctgagtgatgGgcccagcagggatgaggcgg	6	6	20	9	2	0	3	0	3	0	0	0	4	0	4	2	6	2	1	2	6	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr6:165848801G>A	ENST00000366882.1	-	7	585	c.431C>T	c.(430-432)cCc>cTc	p.P144L	PDE10A_ENST00000539869.2_Missense_Mutation_p.P154L|PDE10A_ENST00000354448.4_Missense_Mutation_p.P144L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	144	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CTGAGTGATGGGCCCAGCAGG	0.488																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													153	135	141					6																	165848801		2203	4300	6503	SO:0001583	missense	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.431C>T	6.37:g.165848801G>A	ENSP00000355847:p.Pro144Leu		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.P154L	ENST00000366882.1	37	c.461		6	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217813	0.79352	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.67865	-0.29;-0.29	5.32	5.32	0.75619	GAF (2);	0.098954	0.64402	D	0.000001	T	0.78553	0.4301	M	0.68952	2.095	0.80722	D	1	D;P	0.89917	1.0;0.937	D;P	0.91635	0.999;0.621	T	0.79596	-0.1738	10	0.66056	D	0.02	.	19.3636	0.94453	0.0:0.0:1.0:0.0	.	154;144	Q9ULW9;Q9Y233	.;PDE10_HUMAN	L	144;172;154;144;143	ENSP00000355847:P144L;ENSP00000346435:P144L	ENSP00000341187:P154L	P	-	2	0	PDE10A	165768791	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	9.419000	0.97397	2.638000	0.89438	0.460000	0.39030	CCC	PDE10A	-	pfam_GAF,smart_GAF	ENSG00000112541		0.488	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	-	0	61	0	G			165848801	-1	tier1	-	no_errors	ENST00000539869	ensembl	human	known	74_37	missense	48.39	16	15	SNP	1.000	A	A	165848801	G	A	165848801	3	1	155	1	0	0	0	0	1	0	0	0	11669	1232	43	3	1976	3	PDE10A	6	165848801	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	6194322	165848801	5266266	100	39488											
SDK1	221935	genome.wustl.edu	37	chr7	4185504	4185504	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccaagacgaggcagggctGgggggagccactggaggcca	9	2	19	11	2	0	1	0	0	0	1	0	4	0	3	3	7	1	2	3	7	1	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:4185504G>A	ENST00000404826.2	+	29	4518	c.4379G>A	c.(4378-4380)tGg>tAg	p.W1460*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.W1460*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1460	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGCAGGGCTGGGGGGAGCCA	0.642																																																	0																																										SO:0001587	stop_gained	0			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.4379G>A	7.37:g.4185504G>A	ENSP00000385899:p.Trp1460*		Q8TEN9|Q8TEP5|Q96N44	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W1460*	ENST00000404826.2	37	c.4379	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	46	12.784737	0.99696	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	.	.	.	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2171	0.86947	0.0:0.0:1.0:0.0	.	.	.	.	X	1460	.	ENSP00000374182:W1460X	W	+	2	0	SDK1	4152030	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.287000	0.95975	2.296000	0.77279	0.462000	0.41574	TGG	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.642	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	120	0	G	NM_152744		4185504	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	nonsense	14.86	63	11	SNP	1.000	A	A	4185504	G	A	4185504	4	1	155	1	0	0	0	0	0	1	0	0	14013	1357	47	3	4493	3	SDK1	7	4185504	Nonsense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09		4185504	154953159	101	39489											
MMD2	221938	genome.wustl.edu	37	chr7	4950836	4950836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccataatccagaccagccagCgcatgtgggaggcccagggg	10	4	14	13	1	0	1	0	0	0	1	1	2	1	2	5	4	2	1	5	4	1	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:4950836C>T	ENST00000404774.3	-	5	601	c.407G>A	c.(406-408)cGc>cAc	p.R136H	MMD2_ENST00000401401.3_Missense_Mutation_p.R136H|MMD2_ENST00000406755.1_Missense_Mutation_p.R136H	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	136						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GACCAGCCAGCGCATGTGGGA	0.652																																																	0													20	24	23					7																	4950836		1920	4126	6046	SO:0001583	missense	0			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.407G>A	7.37:g.4950836C>T	ENSP00000384690:p.Arg136His		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	pfam_HlyIII-related	p.R136H	ENST00000404774.3	37	c.407	CCDS47529.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.438498	0.96168	.	.	ENSG00000136297	ENST00000404774;ENST00000406755;ENST00000401401	T;T;T	0.29917	1.55;1.55;1.55	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.988	D;P;P	0.97110	1.0;0.846;0.651	T	0.53542	-0.8424	10	0.48119	T	0.1	-44.6347	18.4095	0.90546	0.0:1.0:0.0:0.0	.	136;136;136	B5MBW4;Q8IY49;Q8IY49-2	.;PAQRA_HUMAN;.	H	136	ENSP00000384690:R136H;ENSP00000385963:R136H;ENSP00000384141:R136H	ENSP00000384141:R136H	R	-	2	0	MMD2	4917362	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.678000	0.84035	2.589000	0.87451	0.655000	0.94253	CGC	MMD2	-	pfam_HlyIII-related	ENSG00000136297		0.652	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	HGNC	protein_coding	OTTHUMT00000324136.1	-	0	129	0	C	NM_198403		4950836	-1	tier1	-	no_errors	ENST00000404774	ensembl	human	known	74_37	missense	43.17	79	60	SNP	1.000	T	T	4950836	C	T	4950836	3	4	155	1	0	0	0	0	1	0	0	0	9682	768	27	1	417	1	MMD2	7	4950836	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	765332	4950836	154187827	102	39490											
SLC29A4	222962	genome.wustl.edu	37	chr7	5336571	5336571	+	Frame_Shift_Del	DEL	G	G	-																															tgtgcacgccccccaggcacGgcgggcgtgatgatctctct																										TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:5336571delG	ENST00000396872.3	+	7	785	c.624delG	c.(622-624)acgfs	p.T208fs	SLC29A4_ENST00000297195.4_Frame_Shift_Del_p.T208fs|SLC29A4_ENST00000406453.3_Frame_Shift_Del_p.T194fs			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	208					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)	CCCCAGGCACGGCGGGCGTGA	0.716																																																	0													10	11	11					7																	5336571		1998	3957	5955	SO:0001589	frameshift_variant	0			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.624delG	7.37:g.5336571delG	ENSP00000380081:p.Thr208fs		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Frame_Shift_Del	DEL	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.A209fs	ENST00000396872.3	37	c.624	CCDS5340.1	7																																																																																			SLC29A4	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	ENSG00000164638		0.716	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6		0	48	0	G	NM_153247		5336571	1	tier1		no_errors	ENST00000297195	ensembl	human	known	74_37	frame_shift_del	15.62	27	5	DEL	0.160	-	-	5336571	G	-	5336571	7	5	155	1	0	1	0	1	0	0	0	0	14582	1103	39	0	646	0	SLC29A4	7	5336571	Frame_Shift_Del	DEL	G	TCGA-V5-A7RB-01A-11D-A351-09	385735	5336571	153802092	103	39491											
ACTB	60	genome.wustl.edu	37	chr7	5567412	5567412	+	Frame_Shift_Del	DEL	G	G	-																															cggtggacgatggaggggccGgactcgtcatactcctgctt																										TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:5567412delG	ENST00000331789.5	-	6	1286	c.1095delC	c.(1093-1095)tccfs	p.S365fs	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	365					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGAGGGGCCGGACTCGTCAT	0.547																																																	0													121	125	124					7																	5567412		2203	4300	6503	SO:0001589	frameshift_variant	0			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1095delC	7.37:g.5567412delG	ENSP00000349960:p.Ser365fs		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Frame_Shift_Del	DEL	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.G366fs	ENST00000331789.5	37	c.1095	CCDS5341.1	7																																																																																			ACTB	-	pfam_Actin-related,smart_Actin-related	ENSG00000075624		0.547	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4		0	189	0	G	NM_001101		5567412	-1	tier1		no_errors	ENST00000331789	ensembl	human	known	74_37	frame_shift_del	45.45	90	75	DEL	0.255	-	-	5567412	G	-	5567412	7	5	155	1	0	1	0	1	0	0	0	0	193	1103	39	0	36	0	ACTB	7	5567412	Frame_Shift_Del	DEL	G	TCGA-V5-A7RB-01A-11D-A351-09	230841	5567412	153571251	104	39492											
GPR141	353345	genome.wustl.edu	37	chr7	37780847	37780847	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatttgcttctctttgtCtttgggggaagccattggtt	5	19	11	6	0	2	1	0	1	2	0	3	2	2	2	1	3	2	2	1	3	2	7			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:37780847C>A	ENST00000447769.1	+	4	1141	c.852C>A	c.(850-852)gtC>gtA	p.V284V	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Silent_p.V284V			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	284						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						TTCTCTTTGTCTTTGGGGGAA	0.378																																																	0													112	110	110					7																	37780847		2203	4300	6503	SO:0001819	synonymous_variant	0			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.852C>A	7.37:g.37780847C>A			A4D1X7|Q0VAR5|Q86SP3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V284	ENST00000447769.1	37	c.852	CCDS5451.1	7																																																																																			GPR141	-	NULL	ENSG00000187037		0.378	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	-	0	44	0	C	NM_181791		37780847	1	tier1	-	no_errors	ENST00000334425	ensembl	human	known	74_37	silent	28.79	47	19	SNP	0.148	A	A	37780847	C	A	37780847	2	1	155	1	0	0	0	0	0	0	0	1	6675	900	32	3		3	GPR141	7	37780847	Silent	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	32213435	37780847	121357816	105	39493											
VPS41	27072	genome.wustl.edu	37	chr7	38857431	38857431	+	Missense_Mutation	SNP	T	T	G	0	1	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	acttaccttcttccctccggTcacaaactgcttgcaactgg	8	12	6	15	1	2	0	1	0	1	0	4	0	4	0	3	2	5	2	3	2	3	4	rs35693565	byFrequency	TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:38857431T>G	ENST00000310301.4	-	7	490	c.436A>C	c.(436-438)Acc>Ccc	p.T146P	VPS41_ENST00000395969.2_Missense_Mutation_p.T121P	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	146			T -> P (in dbSNP:rs35693565).		Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTCCCTCCGGTCACAAACTGC	0.438																																																	0													213	179	191					7																	38857431		2203	4300	6503	SO:0001583	missense	0			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.436A>C	7.37:g.38857431T>G	ENSP00000309457:p.Thr146Pro		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.T146P	ENST00000310301.4	37	c.436	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	T	19.83	3.899643	0.72754	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000413141;ENST00000414632;ENST00000418457	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.83483	2.645	0.53688	D	0.999975	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.63488	0.915;0.915;0.915	T	0.78720	-0.2094	10	0.56958	D	0.05	-16.6352	13.2953	0.60294	0.0:0.0:0.0:1.0	rs35693565	146;121;146	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	P	146;121;72;133;96	ENSP00000309457:T146P;ENSP00000379297:T121P;ENSP00000412974:T72P;ENSP00000411919:T133P;ENSP00000407835:T96P	ENSP00000265745:T146P	T	-	1	0	VPS41	38823956	1.000000	0.71417	0.991000	0.47740	0.907000	0.53573	6.048000	0.71046	1.880000	0.54463	0.377000	0.23210	ACC	VPS41	-	superfamily_WD40_repeat_dom,pirsf_VPS41	ENSG00000006715		0.438	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	HGNC	protein_coding	OTTHUMT00000226986.3	-	0	58	0	T			38857431	-1	tier1	rs35693565	no_errors	ENST00000310301	ensembl	human	known	74_37	missense	13.79	75	12	SNP	1.000	G	G	38857431	T	G	38857431	3	3	155	1	0	0	0	0	1	0	0	0	17259	1667	58	4	2220	4	VPS41	7	38857431	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	1076584	38857431	120281232	106	39494											
URGCP	55665	genome.wustl.edu	37	chr7	43916873	43916873	+	Missense_Mutation	SNP	A	A	C	1	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	cagccactgtgatgagctgcAtgaaggcccctcgaggaccg	9	6	13	13	2	0	3	0	3	0	0	1	5	0	4	4	2	3	2	4	2	1	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:43916873A>C	ENST00000453200.1	-	6	2682	c.2189T>G	c.(2188-2190)aTg>aGg	p.M730R	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.M687R|URGCP_ENST00000223341.7_Missense_Mutation_p.M687R|URGCP_ENST00000402306.3_Missense_Mutation_p.M721R|URGCP_ENST00000336086.6_Missense_Mutation_p.M687R|URGCP_ENST00000447717.3_Missense_Mutation_p.M687R			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	730	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GATGAGCTGCATGAAGGCCCC	0.622																																																	0													43	46	45					7																	43916873		2085	4216	6301	SO:0001583	missense	0				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.2189T>G	7.37:g.43916873A>C	ENSP00000396918:p.Met730Arg		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.M730R	ENST00000453200.1	37	c.2189	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	A	16.98	3.270516	0.59540	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.51	5.51	0.81932	.	0.090855	0.85682	D	0.000000	T	0.77418	0.4127	M	0.81341	2.54	0.41527	D	0.98843	D;D	0.65815	0.995;0.995	P;P	0.61201	0.885;0.885	T	0.81482	-0.0913	10	0.87932	D	0	-57.1717	13.5411	0.61674	1.0:0.0:0.0:0.0	.	721;730	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	R	687;687;721;687;730;687	ENSP00000223341:M687R;ENSP00000336872:M687R;ENSP00000384955:M721R;ENSP00000392136:M687R;ENSP00000396918:M730R;ENSP00000402803:M687R	ENSP00000223341:M687R	M	-	2	0	URGCP	43883398	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.076000	0.94009	2.089000	0.63090	0.482000	0.46254	ATG	URGCP	-	superfamily_P-loop_NTPase	ENSG00000106608		0.622	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1		0	22	0	A	NM_001077664		43916873	-1			no_errors	ENST00000453200	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	C	C	43916873	A	C	43916873	3	2	155	1	0	0	0	0	1	0	0	0	17075	217	8	4	610	4	URGCP	7	43916873	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	5059442	43916873	115221790	107	39495											
PHKG1	5260	genome.wustl.edu	37	chr7	56149877	56149877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtccacctctttcccgtagCccgggtggtcctcattcatg	4	13	9	15	2	3	0	2	0	1	0	6	0	6	0	5	2	1	1	5	2	1	3	rs376787464		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:56149877C>T	ENST00000297373.2	-	7	811	c.617G>A	c.(616-618)gGc>gAc	p.G206D	PHKG1_ENST00000537360.1_Missense_Mutation_p.G152D|PHKG1_ENST00000452681.2_Missense_Mutation_p.G238D|PHKG1_ENST00000489604.1_5'Flank	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTCCCGTAGCCCGGGTGGTC	0.627																																					Melanoma(184;580 2064 5329 24177 35303)												0													85	81	82					7																	56149877		2203	4300	6503	SO:0001583	missense	0			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.617G>A	7.37:g.56149877C>T	ENSP00000297373:p.Gly206Asp		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma	p.G238D	ENST00000297373.2	37	c.713	CCDS5525.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382556	0.82792	.	.	ENSG00000164776	ENST00000452681;ENST00000537360;ENST00000297373;ENST00000432123	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.49	5.49	0.81192	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	0.000002	T	0.76666	0.4019	L	0.53249	1.67	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;0.998;1.0	T	0.76761	-0.2840	10	0.59425	D	0.04	-43.4464	18.7426	0.91779	0.0:1.0:0.0:0.0	.	152;197;238;206	B7Z5U3;B7Z6U2;F5H2S1;Q16816	.;.;.;PHKG1_HUMAN	D	238;152;206;128	ENSP00000445440:G238D;ENSP00000441528:G152D;ENSP00000297373:G206D;ENSP00000397193:G128D	ENSP00000297373:G206D	G	-	2	0	PHKG1	56117371	1.000000	0.71417	0.993000	0.49108	0.413000	0.31143	4.937000	0.63513	2.759000	0.94783	0.549000	0.68633	GGC	PHKG1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000164776		0.627	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKG1	HGNC	protein_coding	OTTHUMT00000251587.1	-	0	45	0	C	NM_006213		56149877	-1	tier1	-	no_errors	ENST00000452681	ensembl	human	known	74_37	missense	9.33	68	7	SNP	1.000	T	T	56149877	C	T	56149877	3	4	155	1	0	0	0	0	1	0	0	0	11885	739	26	3	562	3	PHKG1	7	56149877	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	12233004	56149877	102988786	108	39496											
ZNF479	90827	genome.wustl.edu	37	chr7	57188644	57188644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagactttgacatatttatGagtctgaaatattttgtttt	13	19	6	3	0	1	4	0	3	1	1	1	4	1	4	0	0	0	1	0	0	5	9			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:57188644G>A	ENST00000331162.4	-	5	748	c.478C>T	c.(478-480)Cat>Tat	p.H160Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACATATTTATGAGTCTGAAAT	0.303																																																	0													36	35	36					7																	57188644		1806	4055	5861	SO:0001583	missense	0			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.478C>T	7.37:g.57188644G>A	ENSP00000333776:p.His160Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H160Y	ENST00000331162.4	37	c.478	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	g	1.270	-0.613361	0.03690	.	.	ENSG00000185177	ENST00000331162	T	0.34072	1.38	1.29	-2.58	0.06228	.	.	.	.	.	T	0.24160	0.0585	L	0.45352	1.415	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.26360	-1.0105	9	0.59425	D	0.04	.	2.0206	0.03508	0.2586:0.0:0.2741:0.4672	.	160	Q96JC4	ZN479_HUMAN	Y	160	ENSP00000333776:H160Y	ENSP00000333776:H160Y	H	-	1	0	ZNF479	57192586	.	.	0.002000	0.10522	0.022000	0.10575	.	.	-1.102000	0.03023	-0.498000	0.04607	CAT	ZNF479	-	NULL	ENSG00000185177		0.303	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	-	0	224	0	G	XM_291202		57188644	-1	tier1	-	no_errors	ENST00000331162	ensembl	human	known	74_37	missense	44.13	157	124	SNP	0.001	A	A	57188644	G	A	57188644	3	1	155	1	0	0	0	0	1	0	0	0	17981	1290	45	3	1100	3	ZNF479	7	57188644	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1038767	57188644	101950019	109	39497											
ZNF736	728927	genome.wustl.edu	37	chr7	63808618	63808618	+	Missense_Mutation	SNP	A	A	T	1	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	tgtgggtaattgcaaggggcAgaaaagcagttataatggcc	13	9	14	5	0	0	1	0	0	0	1	0	1	0	1	1	4	2	5	1	4	6	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:63808618A>T	ENST00000423484.2	+	4	499	c.377A>T	c.(376-378)cAg>cTg	p.Q126L	ZNF736_ENST00000355095.4_Missense_Mutation_p.Q126L			B4DX44	ZN736_HUMAN	zinc finger protein 736	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						TGCAAGGGGCAGAAAAGCAGT	0.363																																																	0													134	106	114					7																	63808618		692	1591	2283	SO:0001583	missense	0				CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"Zinc fingers, C2H2-type", "-"	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.377A>T	7.37:g.63808618A>T	ENSP00000400852:p.Gln126Leu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q126L	ENST00000423484.2	37	c.377	CCDS55114.1	7	.	.	.	.	.	.	.	.	.	.	A	8.006	0.756384	0.15846	.	.	ENSG00000234444	ENST00000355095;ENST00000423484	T;T	0.05025	3.51;3.51	1.13	-0.559	0.11792	.	.	.	.	.	T	0.05273	0.0140	L	0.54965	1.715	0.09310	N	1	B	0.32409	0.37	B	0.19148	0.024	T	0.32402	-0.9908	9	0.54805	T	0.06	.	3.1711	0.06552	0.6756:0.0:0.3244:0.0	.	126	B4DX44	ZN736_HUMAN	L	126	ENSP00000347210:Q126L;ENSP00000400852:Q126L	ENSP00000347210:Q126L	Q	+	2	0	ZNF736	63446053	0.245000	0.23899	0.006000	0.13384	0.425000	0.31504	-0.022000	0.12480	-0.317000	0.08677	0.254000	0.18369	CAG	ZNF736	-	NULL	ENSG00000234444		0.363	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF736	HGNC	protein_coding	OTTHUMT00000344559.2	-	0	75	0	A	NM_001170905		63808618	1	tier1	-	no_errors	ENST00000355095	ensembl	human	known	74_37	missense	41.67	28	20	SNP	0.001	T	T	63808618	A	T	63808618	3	4	155	1	0	0	0	0	1	0	0	0	18173	188	7	5	391	5	ZNF736	7	63808618	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	6619974	63808618	95330045	110	39498											
VPS37D	155382	genome.wustl.edu	37	chr7	73085444	73085444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ccacctgaggcggacgcaggCagagaagctgcaggagctgc	10	3	16	12	2	0	2	0	1	0	1	0	5	0	4	2	4	4	5	2	4	1	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:73085444C>T	ENST00000324941.4	+	4	628	c.494C>T	c.(493-495)gCa>gTa	p.A165V	VPS37D_ENST00000451519.1_Missense_Mutation_p.A80V	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)				CGGACGCAGGCAGAGAAGCTG	0.701																																																	0													10	12	11					7																	73085444		1894	3981	5875	SO:0001583	missense	0			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.494C>T	7.37:g.73085444C>T	ENSP00000320416:p.Ala165Val			Missense_Mutation	SNP	pfam_Mod_r	p.A165V	ENST00000324941.4	37	c.494	CCDS43596.1	7	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660926	0.47572	.	.	ENSG00000176428	ENST00000324941;ENST00000451519	T;T	0.76839	-1.05;-1.05	4.12	3.23	0.37069	Modifier of rudimentary, Modr (2);	0.083392	0.45606	N	0.000355	T	0.55909	0.1950	N	0.20357	0.565	0.39674	D	0.970793	B	0.25563	0.129	B	0.26614	0.071	T	0.49899	-0.8890	10	0.02654	T	1	.	7.4025	0.26973	0.0:0.8788:0.0:0.1212	.	165	Q86XT2	VP37D_HUMAN	V	165;80	ENSP00000320416:A165V;ENSP00000413337:A80V	ENSP00000320416:A165V	A	+	2	0	VPS37D	72723380	0.995000	0.38212	0.779000	0.31741	0.967000	0.64934	3.607000	0.54102	0.930000	0.37217	0.561000	0.74099	GCA	VPS37D	-	pfam_Mod_r	ENSG00000176428		0.701	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37D	HGNC	protein_coding	OTTHUMT00000348064.1		0	16	0	C	NM_152560		73085444	1			no_errors	ENST00000324941	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.785	T	T	73085444	C	T	73085444	3	4	155	1	0	0	0	0	1	0	0	0	17257	710	25	3	508	3	VPS37D	7	73085444	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	9276826	73085444	86053219	111	39499											
AKAP9	10142	genome.wustl.edu	37	chr7	91630606	91630606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	taataagacaacacatggcaCagatggaggaaatgaaaaca	21	5	9	6	0	0	3	0	1	0	2	0	5	0	5	0	3	2	1	0	3	6	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:91630606C>G	ENST00000359028.2	+	9	1636	c.1411C>G	c.(1411-1413)Cag>Gag	p.Q471E	AKAP9_ENST00000358100.2_Missense_Mutation_p.Q471E|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q459E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	471	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)			ACACATGGCACAGATGGAGGA	0.368			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													98	105	103					7																	91630606		2202	4300	6502	SO:0001583	missense	0			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.1411C>G	7.37:g.91630606C>G	ENSP00000351922:p.Gln471Glu		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.Q471E	ENST00000359028.2	37	c.1411		7	.	.	.	.	.	.	.	.	.	.	C	6.941	0.543429	0.13250	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.02863	4.13;4.13;4.13	5.76	4.86	0.63082	.	0.192741	0.25750	N	0.028557	T	0.03608	0.0103	L	0.33485	1.01	0.26451	N	0.975602	B;B;B;B	0.25169	0.073;0.119;0.004;0.041	B;B;B;B	0.32090	0.066;0.14;0.009;0.033	T	0.41466	-0.9507	10	0.12430	T	0.62	.	15.3596	0.74460	0.0:0.5791:0.4209:0.0	.	471;459;459;471	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	E	459;471;471;471;471	ENSP00000348573:Q459E;ENSP00000351922:Q471E;ENSP00000350813:Q471E	ENSP00000348573:Q459E	Q	+	1	0	AKAP9	91468542	0.998000	0.40836	1.000000	0.80357	0.102000	0.19082	3.074000	0.50065	1.513000	0.48852	0.650000	0.86243	CAG	AKAP9	-	NULL	ENSG00000127914		0.368	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0	49	0	C	NM_005751		91630606	1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	46.43	30	26	SNP	0.985	G	G	91630606	C	G	91630606	3	3	155	1	0	0	0	0	1	0	0	0	459	479	17	5	1405	5	AKAP9	7	91630606	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	18545162	91630606	67508057	112	39500											
GPR22	2845	genome.wustl.edu	37	chr7	107115700	107115700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcccctgcctaataatGctgtaatacacaactcttgg	11	12	6	12	0	1	1	0	1	1	0	2	1	2	1	3	1	4	2	3	1	5	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:107115700G>T	ENST00000304402.4	+	3	2538	c.1195G>T	c.(1195-1197)Gct>Tct	p.A399S	COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	399					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GCCTAATAATGCTGTAATACA	0.318																																																	0													48	54	52					7																	107115700		2201	4292	6493	SO:0001583	missense	0			U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"GPCR / Class A : Orphans"	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.1195G>T	7.37:g.107115700G>T	ENSP00000302676:p.Ala399Ser		O14554	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A399S	ENST00000304402.4	37	c.1195	CCDS5744.1	7	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782920	0.49891	.	.	ENSG00000172209	ENST00000304402	T	0.30448	1.53	5.92	5.92	0.95590	.	0.234186	0.43110	D	0.000616	T	0.18593	0.0446	N	0.11560	0.145	0.58432	D	0.999994	P	0.45044	0.849	B	0.37015	0.239	T	0.05146	-1.0903	10	0.19590	T	0.45	-8.7183	20.33	0.98713	0.0:0.0:1.0:0.0	.	399	Q99680	GPR22_HUMAN	S	399	ENSP00000302676:A399S	ENSP00000302676:A399S	A	+	1	0	GPR22	106902936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.872000	0.87187	2.810000	0.96702	0.585000	0.79938	GCT	GPR22	-	NULL	ENSG00000172209		0.318	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR22	HGNC	protein_coding	OTTHUMT00000337598.1		0	84	0	G			107115700	1			no_errors	ENST00000304402	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	107115700	G	T	107115700	3	4	155	1	0	0	0	0	1	0	0	0	6708	1319	46	3	1197	3	GPR22	7	107115700	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	15485094	107115700	52022963	113	39501											
GRM8	2918	genome.wustl.edu	37	chr7	126249516	126249516	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cataacgtccaggagcatctCcgttttcattaaaagtgaca	13	11	7	10	2	2	1	1	1	1	0	4	2	3	2	2	1	2	2	2	1	3	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:126249516C>A	ENST00000339582.2	-	8	2202	c.1394G>T	c.(1393-1395)gGa>gTa	p.G465V	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000405249.1_Nonsense_Mutation_p.E489*|GRM8_ENST00000444921.2_Missense_Mutation_p.G465V|GRM8_ENST00000358373.3_Missense_Mutation_p.G465V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	465					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.G465E(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGGAGCATCTCCGTTTTCATT	0.373										HNSCC(24;0.065)																																							1	Substitution - Missense(1)	skin(1)											143	123	130					7																	126249516		2203	4300	6503	SO:0001583	missense	0				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.1394G>T	7.37:g.126249516C>A	ENSP00000344173:p.Gly465Val		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.E489*	ENST00000339582.2	37	c.1465	CCDS5794.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	30|30	5.056631|5.056631	0.93793|0.93793	.|.	.|.	ENSG00000179603|ENSG00000179603	ENST00000405249|ENST00000339582;ENST00000444921;ENST00000358373	.|D;D;D	.|0.92199	.|-2.99;-2.99;-2.99	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Extracellular ligand-binding receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.97536	.|0.9193	H|H	0.96365|0.96365	3.81|3.81	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.99;1.0	.|P;D	.|0.87578	.|0.64;0.998	.|D	.|0.98683	.|1.0693	.|10	0.87932|0.87932	D|D	0|0	.|.	18.2877|18.2877	0.90119|0.90119	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|465;465	.|O00222-2;O00222	.|.;GRM8_HUMAN	X|V	489|465	.|ENSP00000344173:G465V;ENSP00000409790:G465V;ENSP00000351142:G465V	ENSP00000345747:E489X|ENSP00000344173:G465V	E|G	-|-	1|2	0|0	GRM8|GRM8	126036752|126036752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.792000|7.792000	0.85828|0.85828	2.535000|2.535000	0.85469|0.85469	0.563000|0.563000	0.77884|0.77884	GAG|GGA	GRM8	-	NULL	ENSG00000179603		0.373	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0	73	0	C			126249516	-1			no_errors	ENST00000341617	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	A	A	126249516	C	A	126249516	3	1	155	1	0	0	0	0	1	0	0	0	6830	855	30	3	1398	3	GRM8	7	126249516	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	19133816	126249516	32889147	114	39502											
PAX4	5078	genome.wustl.edu	37	chr7	127255505	127255505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattccactgactgctagccGcacaatctgctgccgggtat	8	10	9	14	2	1	1	0	1	1	0	2	1	2	1	3	1	4	4	3	1	3	3	rs151008936	byFrequency	TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:127255505G>A	ENST00000341640.2	-	1	275	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	PAX4_ENST00000378740.2_Missense_Mutation_p.R24W|PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000338516.3_Missense_Mutation_p.R32W	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	32	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						ACTGCTAGCCGCACAATCTGC	0.587																																					Ovarian(113;737 1605 7858 27720 34092)												0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	91	93	92		70	-0.3	0	7	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PAX4	NM_006193.2	101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	24/344	127255505	3,13003	2203	4300	6503	SO:0001583	missense	0				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.70C>T	7.37:g.127255505G>A	ENSP00000339906:p.Arg24Trp		O95161|Q6B0H0	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.R24W	ENST00000341640.2	37	c.70	CCDS5797.1	7	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419690	0.42918	2.27E-4	2.33E-4	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740	D;D	0.99376	-5.79;-5.79	5.73	-0.33	0.12683	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.478397	0.22649	N	0.057342	D	0.98153	0.9390	L	0.29908	0.895	0.19575	N	0.999963	D;D	0.71674	0.998;0.995	P;P	0.58970	0.827;0.849	D	0.95445	0.8529	10	0.87932	D	0	.	10.9252	0.47187	0.0:0.103:0.3367:0.5603	.	24;32	O43316-4;O43316	.;PAX4_HUMAN	W	24;32;32	ENSP00000339906:R24W;ENSP00000344297:R32W	ENSP00000344297:R32W	R	-	1	2	PAX4	127042741	0.005000	0.15991	0.003000	0.11579	0.105000	0.19272	1.748000	0.38308	0.019000	0.15079	-0.181000	0.13052	CGG	PAX4	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	ENSG00000106331		0.587	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	HGNC	protein_coding	OTTHUMT00000349165.1		0	83	0	G			127255505	-1			no_errors	ENST00000341640	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.379	A	A	127255505	G	A	127255505	3	1	155	1	0	0	0	0	1	0	0	0	11520	1086	38	1	997	1	PAX4	7	127255505	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1005989	127255505	31883158	115	39503											
SLC37A3	84255	genome.wustl.edu	37	chr7	140051914	140051914	+	Frame_Shift_Del	DEL	A	A	-																															aagataacgatcccaccagcAaactgcacagacgccgtcac																										TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:140051914delA	ENST00000326232.9	-	8	854	c.651delT	c.(649-651)tttfs	p.F217fs	SLC37A3_ENST00000447932.2_Frame_Shift_Del_p.F217fs|SLC37A3_ENST00000340308.3_Frame_Shift_Del_p.F217fs|SLC37A3_ENST00000429996.2_3'UTR	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	217					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TCCCACCAGCAAACTGCACAG	0.488																																					Esophageal Squamous(133;211 1716 4665 11387 37873)												0													110	94	99					7																	140051914		2203	4300	6503	SO:0001589	frameshift_variant	0			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.651delT	7.37:g.140051914delA	ENSP00000321498:p.Phe217fs		Q6PIU7|Q86SS4|Q9BQG7	Frame_Shift_Del	DEL	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F217fs	ENST00000326232.9	37	c.651	CCDS5859.1	7																																																																																			SLC37A3	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000157800		0.488	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC37A3	HGNC	protein_coding	OTTHUMT00000348492.1		0	61	0	A	NM_032295		140051914	-1	tier1		no_errors	ENST00000326232	ensembl	human	known	74_37	frame_shift_del	19.44	29	7	DEL	1.000	-	-	140051914	A	-	140051914	7	5	155	1	0	1	0	1	0	0	0	0	14644	127	5	0	1014	0	SLC37A3	7	140051914	Frame_Shift_Del	DEL	A	TCGA-V5-A7RB-01A-11D-A351-09	12796409	140051914	19086749	116	39504											
REPIN1	29803	genome.wustl.edu	37	chr7	150069801	150069801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagccctacgtctgccccGactgcggcaaagccttcagc	9	6	10	16	3	2	1	1	0	1	1	2	2	2	1	4	1	6	1	4	1	3	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:150069801G>T	ENST00000425389.2	+	1	1549	c.1471G>T	c.(1471-1473)Gac>Tac	p.D491Y	REPIN1_ENST00000540729.1_Missense_Mutation_p.D491Y|REPIN1_ENST00000397281.2_Missense_Mutation_p.D491Y|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000444957.1_Missense_Mutation_p.D491Y|REPIN1_ENST00000489432.2_Missense_Mutation_p.D548Y|REPIN1_ENST00000479668.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	491					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)			CGTCTGCCCCGACTGCGGCAA	0.687																																																	0													39	46	44					7																	150069801		2202	4299	6501	SO:0001583	missense	0			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.1471G>T	7.37:g.150069801G>T	ENSP00000388287:p.Asp491Tyr		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D548Y	ENST00000425389.2	37	c.1642	CCDS43677.1	7	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512414	0.44660	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.01051	5.4;5.4;5.4;5.4;5.4	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02012	0.0063	N	0.05441	-0.05	0.22888	N	0.99861	B;D	0.53885	0.058;0.963	B;P	0.59171	0.07;0.853	T	0.60073	-0.7334	9	0.72032	D	0.01	-11.439	13.8973	0.63781	0.0:0.0:1.0:0.0	.	548;491	C9J3L7;Q9BWE0	.;REPI1_HUMAN	Y	491;491;491;548;491	ENSP00000445016:D491Y;ENSP00000380451:D491Y;ENSP00000407714:D491Y;ENSP00000417291:D548Y;ENSP00000388287:D491Y	ENSP00000380451:D491Y	D	+	1	0	REPIN1	149700734	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.216000	0.09266	2.142000	0.66516	0.462000	0.41574	GAC	REPIN1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000214022		0.687	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	REPIN1	HGNC	protein_coding	OTTHUMT00000376940.1	-	0	41	0	G	NM_014374		150069801	1	tier1	-	no_errors	ENST00000489432	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.245	T	T	150069801	G	T	150069801	3	4	155	1	0	0	0	0	1	0	0	0	13272	1058	37	2	1648	2	REPIN1	7	150069801	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	10017887	150069801	9068862	117	39505											
FASTK	10922	genome.wustl.edu	37	chr7	150776706	150776706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccacaggagggggccgtGgccgagaccccaagagctgg	8	3	17	13	2	0	2	0	0	0	2	1	4	1	3	5	5	1	2	5	5	1	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr7:150776706G>A	ENST00000297532.6	-	2	463	c.386C>T	c.(385-387)cCa>cTa	p.P129L	FASTK_ENST00000540185.1_Missense_Mutation_p.P95L|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.P129L|FASTK_ENST00000353841.2_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	129					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AGGGGGCCGTGGCCGAGACCC	0.642																																																	0													47	45	45					7																	150776706		2203	4299	6502	SO:0001583	missense	0				CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.386C>T	7.37:g.150776706G>A	ENSP00000297532:p.Pro129Leu		A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.P129L	ENST00000297532.6	37	c.386	CCDS5918.1	7	.	.	.	.	.	.	.	.	.	.	G	14.28	2.486959	0.44249	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000297532;ENST00000482571;ENST00000540185	T;T;T	0.42900	0.96;0.96;0.96	3.96	3.96	0.45880	.	0.313340	0.20788	N	0.085662	T	0.50222	0.1603	L	0.27053	0.805	0.47737	D	0.999509	D;D;D	0.89917	1.0;0.999;0.997	D;D;P	0.91635	0.999;0.958;0.831	T	0.50972	-0.8764	10	0.52906	T	0.07	-22.4417	13.8606	0.63557	0.0:0.0:1.0:0.0	.	95;129;129	G3V1R6;F8VTW9;Q14296	.;.;FASTK_HUMAN	L	129;129;129;129;95	ENSP00000297532:P129L;ENSP00000418516:P129L;ENSP00000444498:P95L	ENSP00000297530:P129L	P	-	2	0	FASTK	150407639	0.887000	0.30362	0.127000	0.21898	0.988000	0.76386	1.203000	0.32284	2.484000	0.83849	0.655000	0.94253	CCA	FASTK	-	NULL	ENSG00000164896		0.642	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTK	HGNC	protein_coding	OTTHUMT00000351832.2	-	0	44	0	G	NM_006712		150776706	-1	tier1	-	no_errors	ENST00000297532	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.744	A	A	150776706	G	A	150776706	3	1	155	1	0	0	0	0	1	0	0	0	5706	1348	47	3	1299	3	FASTK	7	150776706	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	706905	150776706	8361957	118	39506											
GOLGA7	51125	genome.wustl.edu	37	chr8	41355027	41355027	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaatattttcttctctacaGattgataggcagcagtttga	12	16	7	6	0	2	3	0	2	2	1	3	3	2	3	0	1	2	3	0	1	5	9			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr8:41355027G>C	ENST00000357743.4	+	2	312		c.e2-1		GOLGA7_ENST00000520817.1_Splice_Site|GOLGA7_ENST00000518270.1_Splice_Site|GOLGA7_ENST00000405786.2_Splice_Site	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7						Golgi to plasma membrane protein transport (GO:0043001)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CTTCTCTACAGATTGATAGGC	0.338																																																	0													98	108	105					8																	41355027		2202	4300	6502	SO:0001630	splice_region_variant	0			AF125102	CCDS34887.1, CCDS55226.1	8p11.21	2011-10-25	2010-02-12		ENSG00000147533	ENSG00000147533			24876	protein-coding gene	gene with protein product		609453	"golgi autoantigen, golgin subfamily a, 7"			11042152	Standard	NM_001174124		Approved	GCP16, HSPC041, GOLGA3AP1, GOLGA7A	uc003xnu.3	Q7Z5G4	OTTHUMG00000164077	ENST00000357743.4:c.112-1G>C	8.37:g.41355027G>C			D3DSX9|J3KQ24|Q96EQ4|Q9P1S0|Q9Y5U7	Splice_Site	SNP	-	e2-1	ENST00000357743.4	37	c.112-1	CCDS34887.1	8	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267296	0.80469	.	.	ENSG00000147533	ENST00000518270;ENST00000520817;ENST00000405786;ENST00000357743	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.734	0.91748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GOLGA7	41474184	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.925000	0.87563	2.669000	0.90835	0.655000	0.94253	.	GOLGA7	-	-	ENSG00000147533		0.338	GOLGA7-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GOLGA7	HGNC	protein_coding	OTTHUMT00000377142.1	-	0	47	0	G	NM_016099	Intron	41355027	1	tier1	-	no_errors	ENST00000520817	ensembl	human	known	74_37	splice_site	50.00	8	8	SNP	1.000	C	C	41355027	G	C	41355027	5	2	155	1	0	0	0	0	0	0	1	0	6587	956	33	5	117	5	GOLGA7	8	41355027	Splice_Site	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09		41355027	105008995	119	39507											
ANK1	286	genome.wustl.edu	37	chr8	41573336	41573336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtttgtgtggccgatgCgagctgcacagtgaagtggg	7	10	16	8	2	0	1	0	1	0	0	0	3	0	1	2	2	3	3	2	2	1	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr8:41573336C>T	ENST00000347528.4	-	14	1519	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	ANK1_ENST00000396942.1_Missense_Mutation_p.R479H|ANK1_ENST00000289734.7_Missense_Mutation_p.R479H|ANK1_ENST00000352337.4_Missense_Mutation_p.R479H|ANK1_ENST00000396945.1_Missense_Mutation_p.R479H|ANK1_ENST00000265709.8_Missense_Mutation_p.R512H|ANK1_ENST00000379758.2_Missense_Mutation_p.R479H	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	479	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGGCCGATGCGAGCTGCACA	0.542																																																	0													99	89	92					8																	41573336		2203	4300	6503	SO:0001583	missense	0			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.1436G>A	8.37:g.41573336C>T	ENSP00000339620:p.Arg479His		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R479H	ENST00000347528.4	37	c.1436	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.503239	0.96371	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	6.03	6.03	0.97812	Ankyrin repeat-containing domain (3);	0.055814	0.64402	D	0.000001	T	0.71660	0.3366	N	0.16903	0.455	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.999;0.883;1.0;1.0	D;D;B;D;D	0.69479	0.947;0.96;0.169;0.932;0.964	T	0.73560	-0.3944	10	0.52906	T	0.07	.	20.17	0.98157	0.0:1.0:0.0:0.0	.	512;479;479;479;479	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	H	479;479;479;479;479;479;512;479	ENSP00000339620:R479H;ENSP00000289734:R479H;ENSP00000369082:R479H;ENSP00000380149:R479H;ENSP00000380147:R479H;ENSP00000309131:R479H;ENSP00000265709:R512H	ENSP00000265709:R512H	R	-	2	0	ANK1	41692493	1.000000	0.71417	0.985000	0.45067	0.927000	0.56198	7.797000	0.85911	2.868000	0.98415	0.555000	0.69702	CGC	ANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000029534		0.542	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	-	0	60	0	C	NM_020475		41573336	-1	tier1	-	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	41573336	C	T	41573336	3	4	155	1	0	0	0	0	1	0	0	0	620	768	27	1	4679	1	ANK1	8	41573336	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	218309	41573336	104790686	120	39508											
XKR4	114786	genome.wustl.edu	37	chr8	56436043	56436043	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagctgtactttgggatcTtcatcgtccttcactggtgc	5	15	9	12	1	3	0	2	0	1	0	6	1	5	1	2	2	3	2	2	2	1	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr8:56436043T>G	ENST00000327381.6	+	3	1310	c.1210T>G	c.(1210-1212)Ttc>Gtc	p.F404V	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	404						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTTTGGGATCTTCATCGTCCT	0.512																																																	0													341	272	295					8																	56436043		2203	4300	6503	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1210T>G	8.37:g.56436043T>G	ENSP00000328326:p.Phe404Val		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.F404V	ENST00000327381.6	37	c.1210	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816072	0.70912	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.60672	0.17	5.71	5.71	0.89125	.	0.046062	0.85682	N	0.000000	T	0.62270	0.2414	N	0.25031	0.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57642	-0.7776	10	0.15952	T	0.53	-11.8441	15.9804	0.80105	0.0:0.0:0.0:1.0	.	404	Q5GH76	XKR4_HUMAN	V	404	ENSP00000328326:F404V	ENSP00000328326:F404V	F	+	1	0	XKR4	56598597	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.040000	0.89188	2.176000	0.68965	0.455000	0.32223	TTC	XKR4	-	pfam_Transport_prot_XK	ENSG00000206579		0.512	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	-	0	76	0	T	NM_052898		56436043	1	tier1	-	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	28.57	35	14	SNP	1.000	G	G	56436043	T	G	56436043	3	3	155	1	0	0	0	0	1	0	0	0	17482	1609	56	4	1220	4	XKR4	8	56436043	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	14862707	56436043	89927979	121	39509											
PREX2	80243	genome.wustl.edu	37	chr8	69012064	69012064	+	Missense_Mutation	SNP	T	T	C	0	1	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	aacacctatgtcagagaataTccagttataaaaaggtaagt	18	10	7	6	0	1	1	1	0	0	1	2	2	2	1	2	1	1	2	2	1	9	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr8:69012064T>C	ENST00000288368.4	+	23	2978	c.2701T>C	c.(2701-2703)Tcc>Ccc	p.S901P	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	901					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						TCAGAGAATATCCAGTTATAA	0.284																																																	0													73	73	73					8																	69012064		2203	4300	6503	SO:0001583	missense	0			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.2701T>C	8.37:g.69012064T>C	ENSP00000288368:p.Ser901Pro		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S901P	ENST00000288368.4	37	c.2701	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700880	0.48307	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.36878	1.23	5.66	4.51	0.55191	.	0.131468	0.53938	D	0.000055	T	0.34919	0.0914	L	0.38175	1.15	0.38321	D	0.943536	P;B;B	0.39831	0.69;0.146;0.429	P;B;P	0.49140	0.596;0.16;0.601	T	0.27226	-1.0080	10	0.38643	T	0.18	.	5.4663	0.16646	0.2603:0.0725:0.0:0.6673	.	901;901;901	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	P	901	ENSP00000288368:S901P	ENSP00000288368:S901P	S	+	1	0	PREX2	69174618	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.955000	0.49121	0.974000	0.38366	0.528000	0.53228	TCC	PREX2	-	NULL	ENSG00000046889		0.284	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	28	0	T	NM_025170		69012064	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	C	C	69012064	T	C	69012064	3	2	155	1	0	0	0	0	1	0	0	0	12519	1435	50	4	2791	4	PREX2	8	69012064	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	12576021	69012064	77351958	122	39510											
CRISPLD1	83690	genome.wustl.edu	37	chr8	75926262	75926262	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaatcggttgtgccattaAtttgtgtcataacatgaaca	13	13	8	7	1	1	2	1	1	0	1	2	2	1	2	1	1	3	1	1	1	4	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr8:75926262A>C	ENST00000262207.4	+	5	1019	c.551A>C	c.(550-552)aAt>aCt	p.N184T	CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_Intron	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	184	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)			TGTGCCATTAATTTGTGTCAT	0.423																																																	0													156	140	146					8																	75926262		2203	4300	6503	SO:0001583	missense	0			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.551A>C	8.37:g.75926262A>C	ENSP00000262207:p.Asn184Thr		B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.N184T	ENST00000262207.4	37	c.551	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182642	0.78677	.	.	ENSG00000121005	ENST00000262207	T	0.08282	3.11	4.95	4.95	0.65309	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.16642	0.0400	N	0.25647	0.755	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.05920	-1.0856	10	0.33940	T	0.23	.	14.7877	0.69816	1.0:0.0:0.0:0.0	.	184	Q9H336	CRLD1_HUMAN	T	184	ENSP00000262207:N184T	ENSP00000262207:N184T	N	+	2	0	CRISPLD1	76088817	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.050000	0.76620	2.072000	0.62099	0.528000	0.53228	AAT	CRISPLD1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000121005		0.423	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	-	0	95	0	A	NM_031461		75926262	1	tier1	-	no_errors	ENST00000262207	ensembl	human	known	74_37	missense	43.86	32	25	SNP	1.000	C	C	75926262	A	C	75926262	3	2	155	1	0	0	0	0	1	0	0	0	3889	101	4	4	565	4	CRISPLD1	8	75926262	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	6914198	75926262	70437760	123	39511											
ZFHX4	79776	genome.wustl.edu	37	chr8	77763213	77763213	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggagcagaaaccgactaaAgaacccttggaagtctcaga	16	5	11	9	1	1	3	1	0	1	3	2	7	1	5	2	2	3	1	2	2	5	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr8:77763213A>T	ENST00000521891.2	+	10	4504	c.4056A>T	c.(4054-4056)aaA>aaT	p.K1352N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1307N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1326N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1307N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1307					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)			AACCGACTAAAGAACCCTTGG	0.408										HNSCC(33;0.089)																																							0													67	65	66					8																	77763213		1848	4088	5936	SO:0001583	missense	0				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.4056A>T	8.37:g.77763213A>T	ENSP00000430497:p.Lys1352Asn		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.K1352N	ENST00000521891.2	37	c.4056	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	11.82	1.753590	0.31046	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52295	0.67;0.75;0.72;0.71	4.95	-0.044	0.13857	.	0.000000	0.46758	U	0.000263	T	0.62146	0.2404	M	0.73598	2.24	0.50467	D	0.99987	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.85130	0.991;0.997;0.996	T	0.59490	-0.7445	10	0.40728	T	0.16	.	9.9123	0.41413	0.5512:0.0:0.4488:0.0	.	1307;1307;1352	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	1352;1352;1307;1307;1326	ENSP00000430497:K1352N;ENSP00000399605:K1307N;ENSP00000050961:K1307N;ENSP00000430848:K1326N	ENSP00000050961:K1307N	K	+	3	2	ZFHX4	77925768	1.000000	0.71417	0.758000	0.31321	0.878000	0.50629	0.692000	0.25482	0.085000	0.17107	0.454000	0.30748	AAA	ZFHX4	-	NULL	ENSG00000091656		0.408	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	117	0	A	NM_024721		77763213	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	35.64	65	36	SNP	0.987	T	T	77763213	A	T	77763213	3	4	155	1	0	0	0	0	1	0	0	0	17683	69	3	5	4090	5	ZFHX4	8	77763213	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	1836951	77763213	68600809	124	39512											
LRP12	29967	genome.wustl.edu	37	chr8	105601095	105601095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caacgcagacctccaccgcgGagactcttttgtgctccagc	8	8	9	16	3	1	2	0	0	1	2	3	3	3	2	4	1	3	2	4	1	1	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr8:105601095G>A	ENST00000276654.5	-	1	139	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	RP11-127H5.1_ENST00000521923.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.P11S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	11					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)			CTCCACCGCGGAGACTCTTTT	0.622																																																	0													68	56	60					8																	105601095		2203	4300	6503	SO:0001583	missense	0			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.31C>T	8.37:g.105601095G>A	ENSP00000276654:p.Pro11Ser		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.P11S	ENST00000276654.5	37	c.31	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277912	0.40294	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523830	D;D	0.83075	-1.68;-1.58	4.0	3.12	0.35913	.	0.550330	0.14518	U	0.314626	T	0.66557	0.2801	N	0.08118	0	0.80722	D	1	B;B;B	0.19445	0.036;0.007;0.002	B;B;B	0.12156	0.003;0.007;0.007	T	0.61422	-0.7066	10	0.59425	D	0.04	-1.2386	9.2326	0.37446	0.1061:0.0:0.8939:0.0	.	11;11;11	Q68DE8;Q9Y561-2;Q9Y561	.;.;LRP12_HUMAN	S	11	ENSP00000399148:P11S;ENSP00000276654:P11S	ENSP00000276654:P11S	P	-	1	0	LRP12	105670271	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.971000	0.49248	0.873000	0.35799	0.655000	0.94253	CCG	LRP12	-	NULL	ENSG00000147650		0.622	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0	164	0	G	NM_013437		105601095	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	11.59	122	16	SNP	1.000	A	A	105601095	G	A	105601095	3	1	155	1	0	0	0	0	1	0	0	0	8989	1174	41	3	2576	3	LRP12	8	105601095	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	27837882	105601095	40762927	125	39513											
BAI1	575	genome.wustl.edu	37	chr8	143562931	143562931	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggggagggggtctcGgaggtcatccagacactggt	6	8	17	10	1	2	1	1	0	1	1	4	3	3	3	2	7	1	0	2	7	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr8:143562931G>A	ENST00000517894.1	+	11	2883	c.1989G>A	c.(1987-1989)tcG>tcA	p.S663S	BAI1_ENST00000323289.5_Silent_p.S663S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	663					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)					AGGGGGTCTCGGAGGTCATCC	0.612																																																	0													26	30	29					8																	143562931		2026	4169	6195	SO:0001819	synonymous_variant	0			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.1989G>A	8.37:g.143562931G>A				Silent	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.S663	ENST00000517894.1	37	c.1989		8																																																																																			BAI1	-	pfam_DUF3497	ENSG00000181790		0.612	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	-	0	90	0	G	NM_001702		143562931	1	tier1	-	no_errors	ENST00000323289	ensembl	human	known	74_37	silent	25.44	85	29	SNP	0.035	A	A	143562931	G	A	143562931	2	1	155	1	0	0	0	0	0	0	0	1	1299	1103	39	1		1	BAI1	8	143562931	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	37961836	143562931	2801091	126	39514											
ELAVL2	1993	genome.wustl.edu	37	chr9	23704933	23704933	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccagtgacctggtcgacaAgaatacgagaagtaataatg	16	8	10	7	2	0	3	0	1	0	2	1	5	0	3	2	1	2	1	2	1	7	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr9:23704933A>C	ENST00000397312.2	-	4	744	c.470T>G	c.(469-471)cTt>cGt	p.L157R	ELAVL2_ENST00000380110.4_Missense_Mutation_p.L186R|ELAVL2_ENST00000544538.1_Missense_Mutation_p.L157R|ELAVL2_ENST00000380117.1_Missense_Mutation_p.L157R|ELAVL2_ENST00000223951.6_Missense_Mutation_p.L157R	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	157	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		CTGGTCGACAAGAATACGAGA	0.428																																																	0													155	142	146					9																	23704933		2203	4300	6503	SO:0001583	missense	0			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.470T>G	9.37:g.23704933A>C	ENSP00000380479:p.Leu157Arg		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.L157R	ENST00000397312.2	37	c.470	CCDS6515.1	9	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220274	0.79464	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.36261	-0.9755	10	0.87932	D	0	.	15.9885	0.80179	1.0:0.0:0.0:0.0	.	157;157	Q12926;Q12926-2	ELAV2_HUMAN;.	R	157;157;157;157;157;185;22;157	ENSP00000223951:L157R;ENSP00000380479:L157R;ENSP00000440998:L157R;ENSP00000369460:L157R;ENSP00000391757:L22R;ENSP00000412602:L157R	ENSP00000223951:L157R	L	-	2	0	ELAVL2	23694933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.938000	0.92943	2.183000	0.69458	0.533000	0.62120	CTT	ELAVL2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	ENSG00000107105		0.428	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	-	0	97	0	A	NM_004432		23704933	-1	tier1	-	no_errors	ENST00000380117	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	C	C	23704933	A	C	23704933	3	2	155	1	0	0	0	0	1	0	0	0	5066	72	3	4	625	4	ELAVL2	9	23704933	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09		23704933	117508498	127	39515											
CYLC2	1539	genome.wustl.edu	37	chr9	105767695	105767695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgaatcgaaggatgccaAgaaagatgcaaaggagatta	18	7	12	4	1	0	5	0	2	0	3	1	8	0	6	1	2	2	1	1	2	6	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr9:105767695A>G	ENST00000374798.3	+	5	852	c.782A>G	c.(781-783)aAg>aGg	p.K261R	CYLC2_ENST00000487798.1_Missense_Mutation_p.K261R	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	261	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGGATGCCAAGAAAGATGCA	0.373																																																	0													119	113	115					9																	105767695		2203	4300	6503	SO:0001583	missense	0			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.782A>G	9.37:g.105767695A>G	ENSP00000420256:p.Lys261Arg		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.K261R	ENST00000374798.3	37	c.782	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031178	0.35797	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.17054	2.3;2.3	4.36	1.97	0.26223	.	0.000000	0.44483	D	0.000456	T	0.10723	0.0262	L	0.29908	0.895	0.09310	N	1	P	0.44816	0.844	B	0.42319	0.383	T	0.15122	-1.0448	10	0.30854	T	0.27	-1.4191	4.4293	0.11520	0.6946:0.2008:0.1045:0.0	.	261	Q14093	CYLC2_HUMAN	R	261	ENSP00000420256:K261R;ENSP00000417674:K261R	ENSP00000420256:K261R	K	+	2	0	CYLC2	104807516	0.011000	0.17503	0.044000	0.18714	0.193000	0.23685	1.662000	0.37418	0.304000	0.22809	0.477000	0.44152	AAG	CYLC2	-	NULL	ENSG00000155833		0.373	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	-	0	56	0	A	NM_001340		105767695	1	tier1	-	no_errors	ENST00000374798	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.254	G	G	105767695	A	G	105767695	3	3	155	1	0	0	0	0	1	0	0	0	4151	72	3	4	800	4	CYLC2	9	105767695	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	82062762	105767695	35445736	128	39516											
OR13C2	392376	genome.wustl.edu	37	chr9	107367311	107367311	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaatgttgtggccacaaGcatgatgaactcattgtctg	12	11	10	8	0	2	2	1	2	1	0	2	3	2	2	1	1	3	2	1	1	4	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr9:107367311G>C	ENST00000542196.1	-	1	640	c.598C>G	c.(598-600)Ctt>Gtt	p.L200V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GTGGCCACAAGCATGATGAAC	0.403																																																	0													155	147	150					9																	107367311		2201	4300	6501	SO:0001583	missense	0				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.598C>G	9.37:g.107367311G>C	ENSP00000438815:p.Leu200Val		B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L200V	ENST00000542196.1	37	c.598	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.897527	0.00517	.	.	ENSG00000257019	ENST00000542196	T	0.00164	8.64	3.53	0.302	0.15786	GPCR, rhodopsin-like superfamily (1);	0.700134	0.10552	N	0.661382	T	0.00109	0.0003	L	0.28115	0.83	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.14727	-1.0462	10	0.27785	T	0.31	.	0.8727	0.01217	0.2219:0.1841:0.4054:0.1886	.	200	Q8NGS9	O13C2_HUMAN	V	200	ENSP00000438815:L200V	ENSP00000438815:L200V	L	-	1	0	OR13C2	106407132	0.000000	0.05858	0.030000	0.17652	0.061000	0.15899	-0.980000	0.03770	0.196000	0.20367	-0.502000	0.04539	CTT	OR13C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000257019		0.403	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	-	0	80	0	G	NM_001004481		107367311	-1	tier1	-	no_errors	ENST00000542196	ensembl	human	known	74_37	missense	33.90	39	20	SNP	0.001	C	C	107367311	G	C	107367311	3	2	155	1	0	0	0	0	1	0	0	0	10973	971	34	5	361	5	OR13C2	9	107367311	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1599616	107367311	33846120	129	39517											
SVEP1	79987	genome.wustl.edu	37	chr9	113173558	113173558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttggtggctctccacaccGcacagggatgcactggatgg	7	8	14	12	1	1	0	0	0	1	0	2	2	1	2	2	5	1	4	2	5	0	1	rs201043549		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr9:113173558G>A	ENST00000401783.2	-	37	6769	c.6433C>T	c.(6433-6435)Cgg>Tgg	p.R2145W	SVEP1_ENST00000297826.5_Missense_Mutation_p.R71W|SVEP1_ENST00000374469.1_Missense_Mutation_p.R2122W	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2145	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCCACACCGCACAGGGATG	0.502																																																	0								G	TRP/ARG	0,4024		0,0,2012	89	94	92		6433	4.8	1	9		92	1,8341		0,1,4170	no	missense	SVEP1	NM_153366.3	101	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	2145/3572	113173558	1,12365	2012	4171	6183	SO:0001583	missense	0			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.6433C>T	9.37:g.113173558G>A	ENSP00000384917:p.Arg2145Trp		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.R2145W	ENST00000401783.2	37	c.6433	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553200	0.65425	0.0	1.2E-4	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.25085	1.82;1.82;1.82	5.74	4.84	0.62591	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62450	-0.6852	10	0.56958	D	0.05	.	16.3435	0.83110	0.0:0.0:0.8672:0.1328	.	2145	Q4LDE5	SVEP1_HUMAN	W	2145;2122;71	ENSP00000384917:R2145W;ENSP00000363593:R2122W;ENSP00000297826:R71W	ENSP00000297826:R71W	R	-	1	2	SVEP1	112213379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.024000	0.57218	1.432000	0.47375	0.591000	0.81541	CGG	SVEP1	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		-	0	41	0	G			113173558	-1	tier1	rs201043549	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	A	A	113173558	G	A	113173558	3	1	155	1	0	0	0	0	1	0	0	0	15467	1086	38	1	4330	1	SVEP1	9	113173558	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	5806247	113173558	28039873	130	39518											
ZFP37	7539	genome.wustl.edu	37	chr9	115818904	115818904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcctctttggtcgtttccGcacttctcctccggtccacg	2	13	9	17	5	2	0	0	0	2	0	7	0	5	0	5	3	0	2	5	3	0	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr9:115818904G>A	ENST00000374227.3	-	1	92	c.65C>T	c.(64-66)gCg>gTg	p.A22V	ZFP37_ENST00000555206.1_Missense_Mutation_p.A22V|ZFP37_ENST00000553380.1_Missense_Mutation_p.A22V	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	22					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						GGTCGTTTCCGCACTTCTCCT	0.662																																																	0													130	130	130					9																	115818904		2203	4300	6503	SO:0001583	missense	0			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.65C>T	9.37:g.115818904G>A	ENSP00000363344:p.Ala22Val		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A22V	ENST00000374227.3	37	c.65	CCDS6787.1	9	.	.	.	.	.	.	.	.	.	.	g	18.86	3.712542	0.68730	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.06687	3.37;3.27;3.51	3.29	1.34	0.21922	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B;B;B	0.15141	0.012;0.012;0.007	B;B;B	0.06405	0.002;0.002;0.001	T	0.43556	-0.9384	9	0.31617	T	0.26	.	4.77	0.13151	0.1247:0.2205:0.6548:0.0	.	22;22;22	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	V	22	ENSP00000363344:A22V;ENSP00000451310:A22V;ENSP00000452552:A22V	ENSP00000363344:A22V	A	-	2	0	ZFP37	114858725	0.002000	0.14202	0.000000	0.03702	0.066000	0.16364	1.177000	0.31969	0.364000	0.24374	0.558000	0.71614	GCG	ZFP37	-	NULL	ENSG00000136866		0.662	ZFP37-001	KNOWN	basic|CCDS	protein_coding	ZFP37	HGNC	protein_coding	OTTHUMT00000055439.1	-	0	56	0	G	NM_003408		115818904	-1	tier1	-	no_errors	ENST00000553380	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.000	A	A	115818904	G	A	115818904	3	1	155	1	0	0	0	0	1	0	0	0	17696	1087	38	1	1843	1	ZFP37	9	115818904	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	2645346	115818904	25394527	131	39519											
RGS3	5998	genome.wustl.edu	37	chr9	116267774	116267774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcaccatctgctgcgactCtccagttcgagtccaggccg	6	10	9	16	3	3	0	1	0	2	0	6	2	4	0	4	1	2	2	4	1	0	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr9:116267774C>T	ENST00000374140.2	+	12	1159	c.950C>T	c.(949-951)tCt>tTt	p.S317F	RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000317613.6_Missense_Mutation_p.S205F|RGS3_ENST00000343817.5_Missense_Mutation_p.S36F|RGS3_ENST00000394646.3_Missense_Mutation_p.S36F|RGS3_ENST00000350696.5_Missense_Mutation_p.S317F	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	317	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						TGCTGCGACTCTCCAGTTCGA	0.582																																																	0													160	114	129					9																	116267774		2203	4300	6503	SO:0001583	missense	0			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.950C>T	9.37:g.116267774C>T	ENSP00000363255:p.Ser317Phe		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.S317F	ENST00000374140.2	37	c.950	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	C	31	5.102316	0.94245	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	6.01	6.01	0.97437	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.76433	2.335	0.80722	D	1	D;D;D;D;D	0.89917	0.96;1.0;1.0;0.998;1.0	P;D;D;D;D	0.83275	0.857;0.996;0.995;0.949;0.993	T	0.58858	-0.7562	10	0.87932	D	0	.	17.6771	0.88233	0.0:1.0:0.0:0.0	.	36;36;207;205;317	B3KUB2;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;RGS3_HUMAN	F	317;317;205;36;36	ENSP00000363255:S317F;ENSP00000259406:S317F;ENSP00000312844:S205F;ENSP00000340284:S36F;ENSP00000378141:S36F	ENSP00000312844:S205F	S	+	2	0	RGS3	115307595	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.178000	0.58284	2.861000	0.98227	0.650000	0.86243	TCT	RGS3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000138835		0.582	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	-	0	90	0	C	NM_017790		116267774	1	tier1	-	no_errors	ENST00000350696	ensembl	human	known	74_37	missense	35.09	37	20	SNP	1.000	T	T	116267774	C	T	116267774	3	4	155	1	0	0	0	0	1	0	0	0	13351	913	32	3	1133	3	RGS3	9	116267774	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	448870	116267774	24945657	132	39520											
COL27A1	85301	genome.wustl.edu	37	chr9	116918267	116918269	+	In_Frame_Del	DEL	GCG	GCG	-																															cgcggggggcccgaggcacaGcggcggcggcggcggcgcgc																										TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr9:116918267_116918269delGCG	ENST00000356083.3	+	1	428_430	c.37_39delGCG	c.(37-39)gcgdel	p.A18del		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	18					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						ccgaggcacagcggcggcggcgg	0.768																																																	0										52,1722		7,38,842						1.8	1			10	106,4640		11,84,2278	no	coding	COL27A1	NM_032888.2		18,122,3120	A1A1,A1R,RR		2.2335,2.9312,2.4233				158,6362				SO:0001651	inframe_deletion	0			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.37_39delGCG	9.37:g.116918276_116918278delGCG	ENSP00000348385:p.Ala18del		Q66K43|Q96JF7	In_Frame_Del	DEL	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.A16in_frame_del	ENST00000356083.3	37	c.37_39	CCDS6802.1	9																																																																																			COL27A1	-	NULL	ENSG00000196739		0.768	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1		0	16	0	GCG	NM_032888		116918269	1	tier1		no_errors	ENST00000356083	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	1.000:1.000:0.993	-	-	116918269	GCG	-	116918267	7	5	155	1	0	1	0	1	0	0	0	0	3692	971	34	0	39	0	COL27A1	9	116918267	In_Frame_Del	DEL	GCG	TCGA-V5-A7RB-01A-11D-A351-09	650493	116918267	24295164	133	39521											
PPP2R4	5524	genome.wustl.edu	37	chr9	131898874	131898874	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagttcgcagctgataGgtactagagcgggaggtgcc	8	7	18	8	2	0	2	0	1	0	1	1	3	0	3	1	5	4	5	1	5	3	4	rs112063689		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr9:131898874G>T	ENST00000337738.1	+	8	1057	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	PPP2R4_ENST00000423100.1_5'Flank|PPP2R4_ENST00000393370.2_Splice_Site_p.D229Y|PPP2R4_ENST00000524946.2_5'Flank|PPP2R4_ENST00000452489.2_Splice_Site_p.D264Y|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000348141.5_Splice_Site_p.D235Y|PPP2R4_ENST00000355007.3_Splice_Site_p.D187Y|PPP2R4_ENST00000357197.4_Splice_Site_p.D200Y|PPP2R4_ENST00000358994.4_Splice_Site_p.D229Y	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	264					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GCAGCTGATAGGTACTAGAGC	0.617																																					Colon(158;2158 2504 4450 20433)												0													118	126	123					9																	131898874		2203	4300	6503	SO:0001630	splice_region_variant	0			X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9308	protein-coding gene	gene with protein product	"phosphotyrosyl phosphatase activator", "PP2A phosphatase activator"	600756	"protein phosphatase 2A, regulatory subunit B' (PR 53)"			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.790+1G>T	9.37:g.131898874G>T			A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac	p.D264Y	ENST00000337738.1	37	c.790		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.0|27.0|27.0	4.792136|4.792136|4.792136	0.90453|0.90453|0.90453	.|.|.	.|.|.	ENSG00000119383|ENSG00000119383|ENSG00000119383	ENST00000358994;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000452489;ENST00000357197;ENST00000355007;ENST00000417728|ENST00000455240|ENST00000411917	T;T;T;T;T;T;T;T|.|.	0.31247|.|.	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.55|.|.	5.42|5.42|5.42	5.42|5.42|5.42	0.78866|0.78866|0.78866	.|.|.	0.189976|.|.	0.53938|.|.	D|.|.	0.000043|.|.	T|T|.	0.68659|0.68659|.	0.3025|0.3025|.	L|L|L	0.50919|0.50919|0.50919	1.6|1.6|1.6	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P;D;P;B;D|.|.	0.64830|.|.	0.994;0.876;0.976;0.662;0.033;0.963|.|.	D;P;D;P;B;P|.|.	0.68943|.|.	0.961;0.729;0.928;0.757;0.155;0.804|.|.	T|T|.	0.65569|0.65569|.	-0.6136|-0.6136|.	10|5|.	0.49607|.|.	T|.|.	0.09|.|.	-30.7074|-30.7074|-30.7074	16.371|16.371|16.371	0.83361|0.83361|0.83361	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	187;200;264;187;264;229|.|.	B4DLX5;Q15257-3;B4DZF8;Q15257-4;Q15257;Q15257-2|.|.	.;.;.;.;PTPA_HUMAN;.|.|.	Y|I|Y	229;229;264;235;264;200;187;194|42|33	ENSP00000351885:D229Y;ENSP00000377036:D229Y;ENSP00000337448:D264Y;ENSP00000335200:D235Y;ENSP00000394338:D264Y;ENSP00000349726:D200Y;ENSP00000347109:D187Y;ENSP00000403542:D194Y|.|.	ENSP00000337448:D264Y|.|.	D|R|X	+|+|+	1|2|3	0|0|2	PPP2R4|PPP2R4|PPP2R4	130938695|130938695|130938695	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.832000|0.832000|0.832000	0.47134|0.47134|0.47134	9.823000|9.823000|9.823000	0.99369|0.99369|0.99369	2.537000|2.537000|2.537000	0.85549|0.85549|0.85549	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	GAC|AGA|TAG	PPP2R4	-	pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac	ENSG00000119383		0.617	PPP2R4-201	KNOWN	basic	protein_coding	PPP2R4	HGNC	protein_coding			0	55	0	G	NM_021131	Missense_Mutation	131898874	1			no_errors	ENST00000452489	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	131898874	G	T	131898874	5	4	155	1	0	0	0	0	0	0	1	0	12433	1014	35	3	820	3	PPP2R4	9	131898874	Splice_Site	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	14980607	131898874	9314557	134	39522											
CEL	1056	genome.wustl.edu	37	chr9	135940527	135940527	+	Silent	SNP	C	C	A	0	0	0	1	1	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	aacaactacctgtatgacggCgaggagatcgccacacgcgg	12	5	12	12	5	0	2	0	1	0	1	1	4	0	2	2	3	3	1	2	3	4	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr9:135940527C>A	ENST00000372080.4	+	4	466	c.450C>A	c.(448-450)ggC>ggA	p.G150G	CEL_ENST00000351304.7_Silent_p.G147G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	147					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGTATGACGGCGAGGAGATCG	0.607																																																	0													176	188	184					9																	135940527		2095	4217	6312	SO:0001819	synonymous_variant	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.450C>A	9.37:g.135940527C>A			Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.G150	ENST00000372080.4	37	c.450	CCDS43896.1	9																																																																																			CEL	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000170835		0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1		0	60	0	C			135940527	1			no_errors	ENST00000372080	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.993	A	A	135940527	C	A	135940527	2	1	155	1	0	0	0	0	0	0	0	1	3216	755	27	2		2	CEL	9	135940527	Silent	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	4041653	135940527	5272904	135	39523											
COL5A1	1289	genome.wustl.edu	37	chr9	137708901	137708901	+	Silent	SNP	T	T	G	0	1	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	ggccctactggtgaaccaggTccatcggggcctccaggaaa	9	6	13	13	1	0	1	0	1	0	0	3	2	2	2	5	6	2	0	5	6	3	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr9:137708901T>G	ENST00000371817.3	+	53	4566	c.4152T>G	c.(4150-4152)ggT>ggG	p.G1384G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1384	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)		GTGAACCAGGTCCATCGGGGC	0.552																																																	0													108	102	104					9																	137708901		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4152T>G	9.37:g.137708901T>G			Q15094|Q5SUX4	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1384	ENST00000371817.3	37	c.4152	CCDS6982.1	9																																																																																			COL5A1	-	NULL	ENSG00000130635		0.552	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	73	0	T	NM_000093		137708901	1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	silent	21.43	44	12	SNP	0.096	G	G	137708901	T	G	137708901	2	3	155	1	0	0	0	0	0	0	0	1	3703	1654	58	4		4	COL5A1	9	137708901	Silent	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	1768374	137708901	3504530	136	39524											
DIP2C	22982	genome.wustl.edu	37	chr10	430013	430013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcattcgcagagaggagagGttgatgtctctctgatctct	9	12	12	8	1	3	4	0	2	3	2	6	6	3	4	0	2	1	3	0	2	0	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr10:430013G>T	ENST00000280886.6	-	16	1917	c.1830C>A	c.(1828-1830)aaC>aaA	p.N610K	DIP2C_ENST00000381496.3_Missense_Mutation_p.N503K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	610						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)		GAGAGGAGAGGTTGATGTCTC	0.478																																																	0													112	94	100					10																	430013		2203	4300	6503	SO:0001583	missense	0			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.1830C>A	10.37:g.430013G>T	ENSP00000280886:p.Asn610Lys		B4DPI5|Q5SS78	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.N610K	ENST00000280886.6	37	c.1830	CCDS7054.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.064846|2.064846	0.36470|0.36470	.|.	.|.	ENSG00000151240|ENSG00000151240	ENST00000280886;ENST00000381496|ENST00000421992	T;T|.	0.39406|.	1.08;1.08|.	5.43|5.43	1.55|1.55	0.23275|0.23275	AMP-dependent synthetase/ligase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56352|0.56352	0.1979|0.1979	L|L	0.49350|0.49350	1.555|1.555	0.35819|0.35819	D|D	0.824437|0.824437	P;B|.	0.41188|.	0.741;0.035|.	B;B|.	0.36766|.	0.232;0.1|.	T|T	0.58047|0.58047	-0.7705|-0.7705	10|5	0.49607|.	T|.	0.09|.	-39.6918|-39.6918	9.9743|9.9743	0.41774|0.41774	0.2671:0.0:0.7329:0.0|0.2671:0.0:0.7329:0.0	.|.	503;610|.	E7EPU2;Q9Y2E4|.	.;DIP2C_HUMAN|.	K|N	610;503|78	ENSP00000280886:N610K;ENSP00000370907:N503K|.	ENSP00000280886:N610K|.	N|T	-|-	3|2	2|0	DIP2C|DIP2C	420013|420013	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.099000|0.099000	0.18886|0.18886	2.786000|2.786000	0.47790|0.47790	0.027000|0.027000	0.15297|0.15297	0.563000|0.563000	0.77884|0.77884	AAC|ACC	DIP2C	-	pfam_AMP-dep_Synth/Lig	ENSG00000151240		0.478	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	-	0	51	0	G	NM_014974		430013	-1	tier1	-	no_errors	ENST00000280886	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	430013	G	T	430013	3	4	155	1	0	0	0	0	1	0	0	0	4543	1252	44	3	2928	3	DIP2C	10	430013	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09		430013	135104734	137	39525											
KIAA1217	56243	genome.wustl.edu	37	chr10	24762740	24762740	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accccctgcctctcctcacaGagtcagtgacctgaggatga	9	8	9	15	0	3	4	2	3	1	1	4	5	3	5	5	1	1	0	5	1	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr10:24762740G>C	ENST00000376454.3	+	6	1460	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	KIAA1217_ENST00000458595.1_Missense_Mutation_p.R477T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R195T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R398T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R477T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R195T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R195T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R397T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.R195T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	477					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						TCTCCTCACAGAGTCAGTGAC	0.552																																																	0													96	82	87					10																	24762740		2203	4300	6503	SO:0001583	missense	0			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.1430G>C	10.37:g.24762740G>C	ENSP00000365637:p.Arg477Thr		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	pfam_AIP3_C	p.R477T	ENST00000376454.3	37	c.1430	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050519	0.55218	.	.	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	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.65	5.65	0.86999	.	0.055127	0.64402	D	0.000001	T	0.71031	0.3292	M	0.74881	2.28	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.998;0.999;0.998;0.995;0.997	T	0.72997	-0.4121	10	0.72032	D	0.01	.	19.7032	0.96063	0.0:0.0:1.0:0.0	.	477;477;195;195;195;195;477;477	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	397;477;477;195;477;477;327;398;195;195;195;195;195	ENSP00000365645:R397T;ENSP00000365639:R477T;ENSP00000392625:R477T;ENSP00000365637:R477T;ENSP00000365635:R477T;ENSP00000404798:R327T;ENSP00000389680:R398T;ENSP00000302343:R195T;ENSP00000379722:R195T;ENSP00000365634:R195T;ENSP00000379723:R195T	ENSP00000302343:R195T	R	+	2	0	KIAA1217	24802746	1.000000	0.71417	0.915000	0.36163	0.049000	0.14656	9.185000	0.94900	2.671000	0.90904	0.655000	0.94253	AGA	KIAA1217	-	NULL	ENSG00000120549		0.552	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	-	0	64	0	G	NM_019590		24762740	1	tier1	-	no_errors	ENST00000376454	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.999	C	C	24762740	G	C	24762740	3	2	155	1	0	0	0	0	1	0	0	0	8243	942	33	5	1452	5	KIAA1217	10	24762740	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	24332727	24762740	110772007	138	39526											
GPR158	57512	genome.wustl.edu	37	chr10	25883308	25883308	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgtgacagtcaccattggGttgcttttgattccaaaggt	9	14	10	8	0	1	2	1	2	0	0	2	2	2	2	2	2	1	2	2	2	1	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr10:25883308G>C	ENST00000376351.3	+	9	2339	c.1980G>C	c.(1978-1980)ggG>ggC	p.G660G	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	660					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						TCACCATTGGGTTGCTTTTGA	0.338																																																	0													190	174	179					10																	25883308		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1980G>C	10.37:g.25883308G>C			Q6QR81|Q9ULT3	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.G660	ENST00000376351.3	37	c.1980	CCDS31166.1	10																																																																																			GPR158	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000151025		0.338	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0	31	0	G	XM_166110		25883308	1	tier1	-	no_errors	ENST00000376351	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.988	C	C	25883308	G	C	25883308	2	2	155	1	0	0	0	0	0	0	0	1	6689	1248	44	5		5	GPR158	10	25883308	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1120568	25883308	109651439	139	39527											
CHAT	1103	genome.wustl.edu	37	chr10	50835702	50835702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgccgtctcagtgaggggGatctgttcactcagttgaga	7	11	13	10	2	4	2	3	2	2	1	6	4	5	3	2	2	0	2	2	2	0	2	rs370202834		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr10:50835702G>T	ENST00000337653.2	+	7	1135	c.982G>T	c.(982-984)Gat>Tat	p.D328Y	CHAT_ENST00000351556.3_Missense_Mutation_p.D210Y|CHAT_ENST00000395559.2_Missense_Mutation_p.D210Y|CHAT_ENST00000395562.2_Missense_Mutation_p.D246Y|CHAT_ENST00000455728.2_Missense_Mutation_p.D210Y|CHAT_ENST00000339797.1_Missense_Mutation_p.D210Y	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	328					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)	CAGTGAGGGGGATCTGTTCAC	0.517																																																	0													209	176	187					10																	50835702		2203	4300	6503	SO:0001583	missense	0			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.982G>T	10.37:g.50835702G>T	ENSP00000337103:p.Asp328Tyr		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.D328Y	ENST00000337653.2	37	c.982	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849181	0.91277	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	5.64	5.64	0.86602	.	0.092527	0.64402	D	0.000001	D	0.95310	0.8478	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.91635	0.923;0.999	D	0.95497	0.8574	10	0.87932	D	0	-17.7339	19.6873	0.95984	0.0:0.0:1.0:0.0	.	210;328	F8W8I2;P28329	.;CLAT_HUMAN	Y	210;210;210;328;246;210	ENSP00000343486:D210Y;ENSP00000345878:D210Y;ENSP00000378926:D210Y;ENSP00000337103:D328Y;ENSP00000378929:D246Y;ENSP00000390521:D210Y	ENSP00000337103:D328Y	D	+	1	0	CHAT	50505708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.462000	0.97649	2.647000	0.89833	0.579000	0.79373	GAT	CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.517	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0	78	0	G	NM_020549		50835702	1	tier1	-	no_errors	ENST00000337653	ensembl	human	known	74_37	missense	28.33	43	17	SNP	1.000	T	T	50835702	G	T	50835702	3	4	155	1	0	0	0	0	1	0	0	0	3320	1174	41	3	1052	3	CHAT	10	50835702	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	24952394	50835702	84699045	140	39528											
BICC1	80114	genome.wustl.edu	37	chr10	60560031	60560031	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaaatcacggggatccGtccatccagacaagtgggtc	11	7	12	11	2	1	1	1	0	0	1	5	2	4	2	3	3	1	1	3	3	2	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr10:60560031G>A	ENST00000373886.3	+	13	1807	c.1803G>A	c.(1801-1803)ccG>ccA	p.P601P	BICC1_ENST00000263103.1_Silent_p.P227P	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	601					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						ACGGGGATCCGTCCATCCAGA	0.408																																																	0													49	46	47					10																	60560031		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1803G>A	10.37:g.60560031G>A				Silent	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.P601	ENST00000373886.3	37	c.1803	CCDS31206.1	10																																																																																			BICC1	-	NULL	ENSG00000122870		0.408	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	-	0	109	0	G	NM_025044		60560031	1	tier1	-	no_errors	ENST00000373886	ensembl	human	known	74_37	silent	30.49	57	25	SNP	0.996	A	A	60560031	G	A	60560031	2	1	155	1	0	0	0	0	0	0	0	1	1429	1132	40	1		1	BICC1	10	60560031	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	9724329	60560031	74974716	141	39529											
ANKRD1	27063	genome.wustl.edu	37	chr10	92675939	92675939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aaggaataccttatctcgggCgctaatttttgctcctttat	9	16	7	9	2	1	0	0	0	1	0	3	1	2	1	2	2	2	2	2	2	6	7			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr10:92675939C>T	ENST00000371697.3	-	6	888	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	214					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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 projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TTATCTCGGGCGCTAATTTTT	0.527																																																	0													84	81	82					10																	92675939		2203	4300	6503	SO:0001583	missense	0			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"Ankyrin repeat domain containing"	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.640G>A	10.37:g.92675939C>T	ENSP00000360762:p.Ala214Thr		Q96LE7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A214T	ENST00000371697.3	37	c.640	CCDS7412.1	10	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941171	0.53079	.	.	ENSG00000148677	ENST00000371697	T	0.65364	-0.15	5.35	4.44	0.53790	Ankyrin repeat-containing domain (4);	0.075470	0.56097	D	0.000039	T	0.55768	0.1941	L	0.52573	1.65	0.48135	D	0.999596	B	0.18863	0.031	B	0.21917	0.037	T	0.52555	-0.8560	10	0.30854	T	0.27	.	13.4315	0.61057	0.0:0.9243:0.0:0.0757	.	214	Q15327	ANKR1_HUMAN	T	214	ENSP00000360762:A214T	ENSP00000360762:A214T	A	-	1	0	ANKRD1	92665919	0.868000	0.29978	0.996000	0.52242	0.966000	0.64601	1.646000	0.37249	2.511000	0.84671	0.484000	0.47621	GCC	ANKRD1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000148677		0.527	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD1	HGNC	protein_coding	OTTHUMT00000049357.1	-	0	112	0	C	NM_014391		92675939	-1	tier1	-	no_errors	ENST00000371697	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.954	T	T	92675939	C	T	92675939	3	4	155	1	0	0	0	0	1	0	0	0	637	768	27	1	335	1	ANKRD1	10	92675939	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	32115908	92675939	42858808	142	39530											
PLCE1	51196	genome.wustl.edu	37	chr10	96058148	96058148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtttaggttcctgtgaagGcattcgacagacctgggagg	8	10	16	7	1	0	2	0	1	0	1	2	4	1	3	2	5	0	3	2	5	2	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr10:96058148G>A	ENST00000371380.3	+	23	5415	c.5180G>A	c.(5179-5181)gGc>gAc	p.G1727D	PLCE1_ENST00000371375.1_Missense_Mutation_p.G1419D|PLCE1_ENST00000371385.3_Missense_Mutation_p.G1419D|PLCE1_ENST00000260766.3_Missense_Mutation_p.G1727D			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1727	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCCTGTGAAGGCATTCGACAG	0.428																																																	0													89	87	87					10																	96058148		1854	4096	5950	SO:0001583	missense	0				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.5180G>A	10.37:g.96058148G>A	ENSP00000360431:p.Gly1727Asp		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.G1727D	ENST00000371380.3	37	c.5180	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418312	0.42918	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.24723	1.84;1.84;1.85;1.85	5.6	5.6	0.85130	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.000000	0.52532	D	0.000078	T	0.25082	0.0609	N	0.19112	0.55	0.35600	D	0.807776	P;P;P	0.49090	0.868;0.919;0.704	B;P;B	0.48795	0.386;0.59;0.216	T	0.20472	-1.0274	10	0.59425	D	0.04	.	14.1954	0.65667	0.0:0.1494:0.8506:0.0	.	1711;1419;1727	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	D	1727;1727;1419;1419	ENSP00000260766:G1727D;ENSP00000360431:G1727D;ENSP00000360438:G1419D;ENSP00000360426:G1419D	ENSP00000260766:G1727D	G	+	2	0	PLCE1	96048138	1.000000	0.71417	0.997000	0.53966	0.533000	0.34776	3.374000	0.52402	2.650000	0.89964	0.655000	0.94253	GGC	PLCE1	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000138193		0.428	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3		0	46	0	G	NM_016341		96058148	1			no_errors	ENST00000260766	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.970	A	A	96058148	G	A	96058148	3	1	155	1	0	0	0	0	1	0	0	0	12073	1203	42	3	5556	3	PLCE1	10	96058148	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	3382209	96058148	39476599	143	39531											
CCDC147	159686	genome.wustl.edu	37	chr10	106125647	106125647	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaaaactagagaaagagCtcaagcagattcaggcagac	19	4	11	7	0	2	4	2	0	0	4	2	6	2	5	0	2	3	3	0	2	5	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr10:106125647C>A	ENST00000369704.3	+	5	807	c.673C>A	c.(673-675)Ctc>Atc	p.L225I	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		225						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGAGAAAGAGCTCAAGCAGAT	0.498																																																	0													67	70	69					10																	106125647		2203	4300	6503	SO:0001583	missense	0																														ENST00000369704.3:c.673C>A	10.37:g.106125647C>A	ENSP00000358718:p.Leu225Ile		D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.L225I	ENST00000369704.3	37	c.673	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408210	0.62399	.	.	ENSG00000120051	ENST00000369704	T	0.35236	1.32	5.97	4.1	0.47936	.	0.188649	0.46145	D	0.000306	T	0.37461	0.1004	L	0.49126	1.545	0.80722	D	1	P	0.45396	0.857	P	0.46796	0.527	T	0.02437	-1.1159	10	0.23302	T	0.38	-8.9924	13.1472	0.59470	0.0:0.8837:0.0:0.1163	.	225	Q5T655	CC147_HUMAN	I	225	ENSP00000358718:L225I	ENSP00000358718:L225I	L	+	1	0	CCDC147	106115637	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	1.627000	0.37050	2.828000	0.97474	0.655000	0.94253	CTC	CCDC147	-	NULL	ENSG00000120051		0.498	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	-	0	61	0	C			106125647	1	tier1	-	no_errors	ENST00000369704	ensembl	human	known	74_37	missense	22.58	24	7	SNP	1.000	A	A	106125647	C	A	106125647	3	1	155	1	0	0	0	0	1	0	0	0	2788	797	28	3	691	3	CCDC147	10	106125647	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	10067499	106125647	29409100	144	39532											
NRAP	4892	genome.wustl.edu	37	chr10	115380372	115380372	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaatctcacctcgctaatGagttctcctgccttcttcgc	7	13	7	14	2	3	1	1	1	3	0	7	2	3	2	3	1	1	2	3	1	2	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr10:115380372G>C	ENST00000359988.3	-	25	3109	c.2865C>G	c.(2863-2865)ctC>ctG	p.L955L	NRAP_ENST00000369360.3_Silent_p.L928L|NRAP_ENST00000360478.3_Silent_p.L920L|NRAP_ENST00000369358.4_Silent_p.L963L	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)		CCTCGCTAATGAGTTCTCCTG	0.498																																																	0													145	126	132					10																	115380372		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2865C>G	10.37:g.115380372G>C				Silent	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.L963	ENST00000359988.3	37	c.2889	CCDS7579.1	10																																																																																			NRAP	-	smart_Nebulin_35r-motif	ENSG00000197893		0.498	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	-	0	42	0	G	NM_006175		115380372	-1	tier1	-	no_errors	ENST00000369358	ensembl	human	known	74_37	silent	21.62	29	8	SNP	1.000	C	C	115380372	G	C	115380372	2	2	155	1	0	0	0	0	0	0	0	1	10677	1277	45	5		5	NRAP	10	115380372	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	9254725	115380372	20154375	145	39533											
ATRNL1	26033	genome.wustl.edu	37	chr10	117040912	117040912	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgagaaatgagcagatttgTaacaaacttaccagctgtaa	16	10	9	6	0	0	3	0	2	0	2	0	4	0	3	1	0	5	4	1	0	5	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr10:117040912T>C	ENST00000355044.3	+	14	2274	c.2148T>C	c.(2146-2148)tgT>tgC	p.C716C		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	716	PSI 3.				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)		AGCAGATTTGTAACAAACTTA	0.363																																																	0													92	87	89					10																	117040912		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2148T>C	10.37:g.117040912T>C			O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.C716	ENST00000355044.3	37	c.2148	CCDS7592.1	10																																																																																			ATRNL1	-	smart_Plexin-like_fold	ENSG00000107518		0.363	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0	68	0	T	XM_049349		117040912	1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	silent	29.63	38	16	SNP	1.000	C	C	117040912	T	C	117040912	2	2	155	1	0	0	0	0	0	0	0	1	1208	1644	57	4		4	ATRNL1	10	117040912	Silent	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	1660540	117040912	18493835	146	39534											
PRLHR	2834	genome.wustl.edu	37	chr10	120354616	120354616	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggctctggaagggcgtGacggctggagcgtccgcgcc	5	6	18	12	5	1	1	0	1	1	0	2	3	2	3	2	5	2	3	2	5	1	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr10:120354616G>A	ENST00000369169.1	-	1	140	c.141C>T	c.(139-141)gtC>gtT	p.V47V	PRLHR_ENST00000239032.2_Silent_p.V47V			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	47					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)		GGAAGGGCGTGACGGCTGGAG	0.682																																																	0													34	39	37					10																	120354616		2203	4299	6502	SO:0001819	synonymous_variant	0			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.141C>T	10.37:g.120354616G>A			O75194|Q502U8|Q5VXR9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.V47	ENST00000369169.1	37	c.141	CCDS7606.1	10																																																																																			PRLHR	-	prints_Prolrel_pep_rcpt	ENSG00000119973		0.682	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLHR	HGNC	protein_coding	OTTHUMT00000050610.1	-	0	51	0	G	NM_004248		120354616	-1	tier1	-	no_errors	ENST00000239032	ensembl	human	known	74_37	silent	45.45	36	30	SNP	0.867	A	A	120354616	G	A	120354616	2	1	155	1	0	0	0	0	0	0	0	1	12572	1277	45	3		3	PRLHR	10	120354616	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	3313704	120354616	15180131	147	39535											
FAM196A	642938	genome.wustl.edu	37	chr10	128974405	128974405	+	Silent	SNP	G	G	A	0	0	1	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	gcgggcactgtcatgtatttGcggtaggctgctctgcagga	6	11	15	9	2	2	0	1	0	1	0	2	1	2	1	0	4	3	6	0	4	2	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr10:128974405G>A	ENST00000522781.1	-	4	810	c.255C>T	c.(253-255)cgC>cgT	p.R85R	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.R85R	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	85										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCATGTATTTGCGGTAGGCTG	0.617																																																	0													123	105	111					10																	128974405		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.255C>T	10.37:g.128974405G>A			B2RNT4|B7ZME7	Silent	SNP	NULL	p.R85	ENST00000522781.1	37	c.255	CCDS31312.1	10																																																																																			FAM196A	-	NULL	ENSG00000188916		0.617	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM196A	HGNC	protein_coding	OTTHUMT00000050978.2	-	0	73	0	G	NM_001039762		128974405	-1	tier1	-	no_errors	ENST00000522781	ensembl	human	known	74_37	silent	13.56	51	8	SNP	0.998	A	A	128974405	G	A	128974405	2	1	155	1	0	0	0	0	0	0	0	1	5547	1306	46	3		3	FAM196A	10	128974405	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	8619789	128974405	6560342	148	39536											
C11orf35	256329	genome.wustl.edu	37	chr11	558686	558686	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgccattctggatggccCaccgcaaggcctggatctcc	6	8	10	17	2	2	0	0	0	2	0	4	2	2	2	6	4	0	1	6	4	1	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:558686C>T	ENST00000329451.3	-	3	301	c.239G>A	c.(238-240)tGg>tAg	p.W80*	RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397583.3_5'Flank|RASSF7_ENST00000397582.3_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000431809.1_5'Flank|RASSF7_ENST00000344375.4_5'Flank|RASSF7_ENST00000454668.2_5'Flank	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		80										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGATGGCCCACCGCAAGGC	0.662																																																	0													24	26	25					11																	558686		2198	4294	6492	SO:0001587	stop_gained	0																														ENST00000329451.3:c.239G>A	11.37:g.558686C>T	ENSP00000331167:p.Trp80*			Nonsense_Mutation	SNP	pfam_Lamin_tail_dom	p.W80*	ENST00000329451.3	37	c.239	CCDS7701.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951705	0.73787	.	.	ENSG00000185522	ENST00000329451;ENST00000441853;ENST00000486629	.	.	.	3.85	1.82	0.25136	.	0.411423	0.18247	N	0.147073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.0944	5.3513	0.16038	0.0:0.6721:0.208:0.1199	.	.	.	.	X	80;87;90	.	ENSP00000331167:W80X	W	-	2	0	C11orf35	548686	0.580000	0.26733	0.875000	0.34327	0.513000	0.34164	1.176000	0.31957	0.792000	0.33850	0.462000	0.41574	TGG	C11orf35	-	NULL	ENSG00000185522		0.662	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf35	HGNC	protein_coding	OTTHUMT00000254973.2	-	0	61	0	C			558686	-1	tier1	-	no_errors	ENST00000329451	ensembl	human	known	74_37	nonsense	39.13	28	18	SNP	0.907	T	T	558686	C	T	558686	4	4	155	1	0	0	0	0	0	1	0	0	1643	595	21	3	1713	3	C11orf35	11	558686	Nonsense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09		558686	134447830	149	39537											
UBQLN3	50613	genome.wustl.edu	37	chr11	5529456	5529456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	agaatctcccagccccgagaCaagatcaggcaagtttgtgc	12	7	10	12	1	2	3	1	0	1	3	3	4	2	3	3	1	2	2	3	1	3	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:5529456C>G	ENST00000311659.4	-	2	1480	c.1333G>C	c.(1333-1335)Gtc>Ctc	p.V445L	HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	445										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)		AGCCCCGAGACAAGATCAGGC	0.537																																					Ovarian(72;684 1260 12332 41642 52180)												0													92	98	96					11																	5529456		2201	4297	6498	SO:0001583	missense	0			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.1333G>C	11.37:g.5529456C>G	ENSP00000347997:p.Val445Leu		Q9NRE0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.V445L	ENST00000311659.4	37	c.1333	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786569	0.31593	.	.	ENSG00000175520	ENST00000311659	T	0.36340	1.26	5.04	3.09	0.35607	.	0.735006	0.11159	N	0.593265	T	0.30916	0.0780	L	0.52759	1.655	0.21697	N	0.99959	B	0.14012	0.009	B	0.10450	0.005	T	0.25984	-1.0116	10	0.45353	T	0.12	-4.1472	6.002	0.19525	0.0:0.7019:0.1933:0.1048	.	445	Q9H347	UBQL3_HUMAN	L	445	ENSP00000347997:V445L	ENSP00000347997:V445L	V	-	1	0	UBQLN3	5486032	0.954000	0.32549	0.997000	0.53966	0.991000	0.79684	0.068000	0.14531	0.637000	0.30526	0.655000	0.94253	GTC	UBQLN3	-	NULL	ENSG00000175520		0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	-	0	113	0	C	NM_017481		5529456	-1	tier1	-	no_errors	ENST00000311659	ensembl	human	known	74_37	missense	35.05	63	34	SNP	0.999	G	G	5529456	C	G	5529456	3	3	155	1	0	0	0	0	1	0	0	0	16947	478	17	5	638	5	UBQLN3	11	5529456	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	4970770	5529456	129477060	150	39538											
OR52E6	390078	genome.wustl.edu	37	chr11	5862453	5862453	+	Silent	SNP	A	A	G	1	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	caggagggcaggcagaagacAgcatagaggatcctgatatg	14	5	15	7	0	0	4	0	1	0	3	1	6	1	6	1	4	1	3	1	4	3	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:5862453A>G	ENST00000329322.5	-	1	674	c.675T>C	c.(673-675)gcT>gcC	p.A225A	OR52E6_ENST00000379946.2_Silent_p.A229A|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGAAGACAGCATAGAGGA	0.443																																																	0													54	55	54					11																	5862453		2196	4296	6492	SO:0001819	synonymous_variant	0			AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.675T>C	11.37:g.5862453A>G			Q6IFF8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A229	ENST00000329322.5	37	c.687	CCDS53597.1	11																																																																																			OR52E6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205409		0.443	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E6	HGNC	protein_coding	OTTHUMT00000401144.1	-	0	54	0	A	NM_001005167		5862453	-1	tier1	-	no_errors	ENST00000379946	ensembl	human	known	74_37	silent	15.62	27	5	SNP	0.001	G	G	5862453	A	G	5862453	2	3	155	1	0	0	0	0	0	0	0	1	11156	175	7	4		4	OR52E6	11	5862453	Silent	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	332997	5862453	129144063	151	39539											
DKK3	27122	genome.wustl.edu	37	chr11	11989986	11989986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gcaggtgtactggaagctggCaaactggcagtacatgctgg	10	8	15	8	0	0	0	0	0	0	0	0	1	0	1	0	5	5	7	0	5	4	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:11989986C>A	ENST00000396505.2	-	5	722	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S	DKK3_ENST00000450094.2_Missense_Mutation_p.A134S|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000525493.1_Missense_Mutation_p.A162S|DKK3_ENST00000326932.4_Missense_Mutation_p.A162S	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	162	DKK-type Cys-1.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TGGAAGCTGGCAAACTGGCAG	0.632																																																	0													84	72	76					11																	11989986		2201	4294	6495	SO:0001583	missense	0			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"regulated in glioma"	605416	"dickkopf (Xenopus laevis) homolog 3", "dickkopf 3 homolog (Xenopus laevis)"			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.484G>T	11.37:g.11989986C>A	ENSP00000379762:p.Ala162Ser		A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	pfam_Dickkopf_N	p.A162S	ENST00000396505.2	37	c.484	CCDS7808.1	11	.	.	.	.	.	.	.	.	.	.	C	9.999	1.233056	0.22626	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914;ENST00000533813;ENST00000534511	T;T;T;T;T;T	0.41065	2.41;2.41;2.39;1.67;2.02;1.01	5.52	-3.43	0.04810	Dickkopf, N-terminal cysteine-rich (1);	0.658158	0.15623	N	0.252767	T	0.14874	0.0359	N	0.01219	-0.95	0.24973	N	0.991659	B;B;B	0.16166	0.008;0.001;0.016	B;B;B	0.17098	0.014;0.001;0.017	T	0.23368	-1.0190	10	0.08381	T	0.77	-13.3912	18.4724	0.90779	0.7542:0.2457:0.0:0.0	.	162;134;162	F6SYF8;E7EUD0;Q9UBP4	.;.;DKK3_HUMAN	S	162;162;105;162;134;6;162;134	ENSP00000379762:A162S;ENSP00000314910:A162S;ENSP00000433112:A162S;ENSP00000398365:A134S;ENSP00000435269:A162S;ENSP00000436645:A134S	ENSP00000314730:A6S	A	-	1	0	DKK3	11946562	0.773000	0.28580	0.980000	0.43619	0.990000	0.78478	-0.023000	0.12456	-0.364000	0.08088	-0.182000	0.12963	GCC	DKK3	-	pfam_Dickkopf_N	ENSG00000050165		0.632	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DKK3	HGNC	protein_coding	OTTHUMT00000385863.1	-	0	74	0	C	NM_013253		11989986	-1	tier1	-	no_errors	ENST00000326932	ensembl	human	known	74_37	missense	16.42	55	11	SNP	0.923	A	A	11989986	C	A	11989986	3	1	155	1	0	0	0	0	1	0	0	0	4560	710	25	3	584	3	DKK3	11	11989986	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	6127533	11989986	123016530	152	39540											
NAV2	89797	genome.wustl.edu	37	chr11	20083861	20083862	+	Missense_Mutation	DNP	TC	TC	AA																															ttcttttaatagttcatggaTcctcactctccttggtttcc																										TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:20083861_20083862TC>AA	ENST00000396087.3	+	22	5107_5108	c.5008_5009TC>AA	c.(5008-5010)TCc>AAc	p.S1670N	NAV2_ENST00000396085.1_Missense_Mutation_p.S1614N|NAV2_ENST00000360655.4_Missense_Mutation_p.S1550N|NAV2_ENST00000311043.8_Missense_Mutation_p.S678N|NAV2_ENST00000527559.2_Missense_Mutation_p.S1599N|NAV2_ENST00000540292.1_Missense_Mutation_p.S1601N|NAV2_ENST00000349880.4_Missense_Mutation_p.S1614N|NAV2_ENST00000533917.1_Missense_Mutation_p.S678N	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1670	Ser-rich.				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						AGTTCATGGATCCTCACTCTCC	0.411																																																	0																																										SO:0001583	missense	0			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	Exception_encountered	11.37:g.20083861_20083862delinsAA	ENSP00000379396:p.Ser1670Asn		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1670T|p.S1670Y	ENST00000396087.3	37	c.5008|c.5009	CCDS58126.1	11																																																																																			NAV2	-	NULL	ENSG00000166833		0.411	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0	49	0	T|C	NM_145117		20083861|20083862	1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	33.33|31.03	20	10|9	SNP	1.000	A	AA	20083862	TC	AA	20083861	3	1	155	1	0	0	0	0	1	0	0	0	10222	1435	50	5	5027	5	NAV2	11	20083861	Missense_Mutation	DNP	TC	TCGA-V5-A7RB-01A-11D-A351-09	8093875	20083861	114922655	153	39541											
BBOX1	8424	genome.wustl.edu	37	chr11	27077102	27077102	+	Missense_Mutation	SNP	A	A	G	1	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	agacaactgtccgtgctctgAttgctacctggattccgcaa	9	11	9	12	2	1	2	0	1	1	1	3	3	3	3	3	1	4	3	3	1	3	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:27077102A>G	ENST00000529202.1	+	2	464	c.125A>G	c.(124-126)gAt>gGt	p.D42G	BBOX1_ENST00000528583.1_Missense_Mutation_p.D42G|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.D42G|BBOX1_ENST00000263182.3_Missense_Mutation_p.D42G|BBOX1_ENST00000527505.1_3'UTR			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	42					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CCGTGCTCTGATTGCTACCTG	0.443																																																	0													100	92	95					11																	27077102		2202	4299	6501	SO:0001583	missense	0			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.125A>G	11.37:g.27077102A>G	ENSP00000435781:p.Asp42Gly		B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase	p.D42G	ENST00000529202.1	37	c.125	CCDS7862.1	11	.	.	.	.	.	.	.	.	.	.	A	9.871	1.198855	0.22121	.	.	ENSG00000129151	ENST00000529202;ENST00000533566;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.94	3.24	0.37175	Domain of unknown function, DUF971 (1);	0.545614	0.21172	N	0.078972	T	0.76666	0.4019	L	0.52759	1.655	0.09310	N	1	B	0.24317	0.101	B	0.31191	0.125	T	0.63157	-0.6700	10	0.28530	T	0.3	.	7.4091	0.27007	0.7662:0.1481:0.0857:0.0	.	42	O75936	BODG_HUMAN	G	42	ENSP00000435781:D42G;ENSP00000263182:D42G;ENSP00000434918:D42G;ENSP00000433772:D42G	ENSP00000263182:D42G	D	+	2	0	BBOX1	27033678	0.000000	0.05858	0.009000	0.14445	0.919000	0.55068	0.977000	0.29475	1.031000	0.39867	0.482000	0.46254	GAT	BBOX1	-	pfam_DUF971,tigrfam_2-oxoglut_dOase	ENSG00000129151		0.443	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	HGNC	protein_coding	OTTHUMT00000387946.1	-	0	58	0	A	NM_003986		27077102	1	tier1	-	no_errors	ENST00000263182	ensembl	human	known	74_37	missense	22.22	35	10	SNP	0.000	G	G	27077102	A	G	27077102	3	3	155	1	0	0	0	0	1	0	0	0	1335	333	12	4	127	4	BBOX1	11	27077102	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	6993241	27077102	107929414	154	39542											
MADD	8567	genome.wustl.edu	37	chr11	47330888	47330888	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgggaagatgccttcttaGatgctgtgatgttggagaga	9	13	14	5	0	2	4	0	1	2	3	2	7	2	6	1	2	2	2	1	2	2	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:47330888G>C	ENST00000311027.5	+	27	4153	c.3988G>C	c.(3988-3990)Gat>Cat	p.D1330H	MADD_ENST00000402192.2_Missense_Mutation_p.D1270H|MADD_ENST00000402799.1_Missense_Mutation_p.D1228H|MADD_ENST00000405573.2_Missense_Mutation_p.D140H|MADD_ENST00000342922.4_Missense_Mutation_p.D1271H|MADD_ENST00000407859.3_Missense_Mutation_p.D1248H|MADD_ENST00000406482.1_Missense_Mutation_p.D1228H|MADD_ENST00000349238.3_Missense_Mutation_p.D1291H|MADD_ENST00000395336.3_Missense_Mutation_p.D1330H|MADD_ENST00000395344.3_Missense_Mutation_p.D1224H	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)		TGCCTTCTTAGATGCTGTGAT	0.453																																																	0													110	110	110					11																	47330888		2201	4298	6499	SO:0001583	missense	0			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.3988G>C	11.37:g.47330888G>C	ENSP00000310933:p.Asp1330His			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D1330H	ENST00000311027.5	37	c.3988	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549918	0.86127	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.63580	2.4;2.26;2.28;2.37;2.36;2.26;2.26;2.38;2.4;-0.05	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	M	0.67700	2.07	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.999	T	0.81095	-0.1088	10	0.87932	D	0	-15.2819	18.7242	0.91708	0.0:0.0:1.0:0.0	.	140;1224;1224;1330;1228;1228;1228;1291;1248;1330;1271	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	H	1271;1228;1228;1228;1291;1330;1248;1224;1330;1270;140	ENSP00000343902:D1271H;ENSP00000385585:D1228H;ENSP00000384435:D1228H;ENSP00000304505:D1291H;ENSP00000310933:D1330H;ENSP00000384204:D1248H;ENSP00000378753:D1224H;ENSP00000378745:D1330H;ENSP00000384287:D1270H;ENSP00000384483:D140H	ENSP00000310933:D1330H	D	+	1	0	MADD	47287464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.205000	0.95048	2.409000	0.81822	0.563000	0.77884	GAT	MADD	-	NULL	ENSG00000110514		0.453	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	-	0	121	0	G			47330888	1	tier1	-	no_errors	ENST00000311027	ensembl	human	known	74_37	missense	37.21	54	32	SNP	1.000	C	C	47330888	G	C	47330888	3	2	155	1	0	0	0	0	1	0	0	0	9188	942	33	5	4090	5	MADD	11	47330888	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	20253786	47330888	87675628	155	39543											
OR5AS1	219447	genome.wustl.edu	37	chr11	55798108	55798108	+	Missense_Mutation	SNP	A	A	C	1	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	acttatctttcttagacatcAgctgttctacagcaatcact	11	15	4	11	0	5	1	2	0	3	1	5	1	5	1	0	0	3	3	0	0	4	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:55798108A>C	ENST00000313555.1	+	1	214	c.214A>C	c.(214-216)Agc>Cgc	p.S72R		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CTTAGACATCAGCTGTTCTAC	0.353																																																	0													68	64	65					11																	55798108		2201	4296	6497	SO:0001583	missense	0			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.214A>C	11.37:g.55798108A>C	ENSP00000324111:p.Ser72Arg		Q6IFB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S72R	ENST00000313555.1	37	c.214	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	A	7.695	0.691786	0.15039	.	.	ENSG00000181785	ENST00000313555	T	0.79247	-1.25	5.65	-1.7	0.08159	GPCR, rhodopsin-like superfamily (1);	0.363748	0.19901	N	0.103517	T	0.72700	0.3493	M	0.67569	2.06	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.66563	-0.5892	10	0.72032	D	0.01	.	13.2071	0.59803	0.2485:0.0:0.0:0.7514	.	72	Q8N127	O5AS1_HUMAN	R	72	ENSP00000324111:S72R	ENSP00000324111:S72R	S	+	1	0	OR5AS1	55554684	0.000000	0.05858	0.007000	0.13788	0.166000	0.22503	-0.035000	0.12205	-0.208000	0.10171	0.523000	0.50628	AGC	OR5AS1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181785		0.353	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	HGNC	protein_coding	OTTHUMT00000391538.1	-	0	72	0	A	NM_001001921		55798108	1	tier1	-	no_errors	ENST00000313555	ensembl	human	known	74_37	missense	30.19	37	16	SNP	0.001	C	C	55798108	A	C	55798108	3	2	155	1	0	0	0	0	1	0	0	0	11185	188	7	4	216	4	OR5AS1	11	55798108	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	8467220	55798108	79208408	156	39544											
GLYATL2	219970	genome.wustl.edu	37	chr11	58604841	58604841	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagatgtggtaagtgttGgtataatgatcctggtcatc	10	14	13	4	0	1	3	1	2	0	1	3	3	2	3	1	3	0	3	1	3	4	4	rs544614171	byFrequency	TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:58604841G>C	ENST00000287275.1	-	4	606	c.216C>G	c.(214-216)acC>acG	p.T72T	GLYATL2_ENST00000532258.1_Silent_p.T72T|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	72						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GGTAAGTGTTGGTATAATGAT	0.373																																																	0													206	192	196					11																	58604841		1859	4105	5964	SO:0001819	synonymous_variant	0			AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.216C>G	11.37:g.58604841G>C			A5LGC7|Q86WC3|Q96AT2	Silent	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.T72	ENST00000287275.1	37	c.216	CCDS41649.1	11																																																																																			GLYATL2	-	pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase	ENSG00000156689		0.373	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYATL2	HGNC	protein_coding	OTTHUMT00000394599.1	-	0	36	0	G	NM_145016		58604841	-1	tier1	-	no_errors	ENST00000287275	ensembl	human	known	74_37	silent	46.51	23	20	SNP	0.982	C	C	58604841	G	C	58604841	2	2	155	1	0	0	0	0	0	0	0	1	6507	1335	47	5		5	GLYATL2	11	58604841	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	2806733	58604841	76401675	157	39545											
SLC22A20	823	genome.wustl.edu	37	chr11	64981654	64981654	+	IGR	SNP	C	C	G	0	0	0	1	1	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	caactcctccatcccgggcgCggccacggagggctgcaagg	7	4	14	16	4	0	0	0	0	0	0	3	1	3	1	4	5	2	2	4	5	2	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:64981654C>G	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		ATCCCGGGCGCGGCCACGGAG	0.677																																																	0													7	8	8					11																	64981654		1888	4074	5962	SO:0001628	intergenic_variant	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981654C>G			Q2TTR0|Q6DHV4	RNA	SNP	-	NULL	ENST00000527323.1	37	NULL	CCDS44644.1	11																																																																																			SLC22A20	-	-	ENSG00000197847		0.677	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC22A20	HGNC	protein_coding	OTTHUMT00000385325.1	-	0	143	0	C			64981654	1	tier1	-	no_errors	ENST00000525264	ensembl	human	known	74_37	rna	6.25	90	6	SNP	0.000	G	G	64981654	C	G	64981654	1	3	155	0	1	0	0	0	0	0	0	0	14496	768	27	5		5	SLC22A20	11	64981654	IGR	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	6376813	64981654	70024862	158	39546											
DKFZp761E198	91056	genome.wustl.edu	37	chr11	65546066	65546066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcaggtgcggcaagcgagGggcccagggccacccccaac	8	2	16	15	2	0	0	0	0	0	0	0	1	0	0	4	5	4	2	4	5	2	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:65546066G>A	ENST00000532090.2	-	2	2108	c.1898C>T	c.(1897-1899)cCc>cTc	p.P633L		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	633					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGCAAGCGAGGGGCCCAGGGC	0.677																																																	0													8	11	10					11																	65546066		2050	4177	6227	SO:0001583	missense	0			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1898C>T	11.37:g.65546066G>A	ENSP00000454303:p.Pro633Leu		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	NULL	p.P633L	ENST00000532090.2	37	c.1898	CCDS58146.1	11																																																																																			AP5B1	-	NULL	ENSG00000254470		0.677	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	-	0	52	0	G	NM_138368		65546066	-1	tier1	-	no_errors	ENST00000532090	ensembl	human	novel	74_37	missense	28.26	33	13	SNP	0.998	A	A	65546066	G	A	65546066	3	1	155	1	0	0	0	0	1	0	0	0	4557	1232	43	3	742	3	DKFZp761E198	11	65546066	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	564412	65546066	69460450	159	39547											
CORO1B	57175	genome.wustl.edu	37	chr11	67207669	67207669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcggctccttgctggtgaaCgtgttcaggaagtggatgta	7	12	15	7	2	1	1	1	1	0	0	2	3	2	3	1	4	3	4	1	4	3	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:67207669C>T	ENST00000341356.5	-	8	1037	c.927G>A	c.(925-927)acG>acA	p.T309T	CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Silent_p.T309T|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	309					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGCTGGTGAACGTGTTCAGGA	0.642																																																	0													80	81	81					11																	67207669		2200	4295	6495	SO:0001819	synonymous_variant	0			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.927G>A	11.37:g.67207669C>T			B2RD45	Silent	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T309	ENST00000341356.5	37	c.927	CCDS8164.1	11																																																																																			CORO1B	-	pfam_DUF1900	ENSG00000172725		0.642	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1B	HGNC	protein_coding	OTTHUMT00000396220.1		0	58	0	C	NM_020441		67207669	-1			no_errors	ENST00000341356	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.001	T	T	67207669	C	T	67207669	2	4	155	1	0	0	0	0	0	0	0	1	3761	523	19	1		1	CORO1B	11	67207669	Silent	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	1661603	67207669	67798847	160	39548											
PAAF1	80227	genome.wustl.edu	37	chr11	73602157	73602157	+	Splice_Site	SNP	A	A	G	1	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	atcttttcctctttgtttagAaaagcattcatatttcatgt	10	20	4	7	0	4	1	2	0	2	1	5	1	5	1	1	0	1	2	1	0	4	8			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:73602157A>G	ENST00000310571.3	+	4	246	c.193A>G	c.(193-195)Aaa>Gaa	p.K65E	PAAF1_ENST00000376384.5_Splice_Site_p.K48E|PAAF1_ENST00000544909.1_Splice_Site_p.K66E|PAAF1_ENST00000544552.1_Splice_Site_p.K48E|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000536003.1_Splice_Site_p.K48E|PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000541951.1_5'UTR	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	65					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)					CTTTGTTTAGAAAAGCATTCA	0.308																																																	0													83	79	80					11																	73602157		2195	4290	6485	SO:0001630	splice_region_variant	0			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.193-1A>G	11.37:g.73602157A>G			A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K65E	ENST00000310571.3	37	c.193	CCDS8226.1	11	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998525	0.74818	.	.	ENSG00000175575	ENST00000310571;ENST00000504441;ENST00000543814;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000536582;ENST00000544909	T;T;T;T;T;T;T;T	0.58652	0.65;0.53;0.32;0.59;0.59;0.59;1.4;0.4	5.81	4.65	0.58169	.	0.000000	0.64402	D	0.000001	T	0.65647	0.2711	L	0.59436	1.845	0.37273	D	0.907502	D;D	0.61697	0.99;0.982	P;P	0.59115	0.852;0.624	T	0.68914	-0.5283	9	.	.	.	-11.3484	9.8001	0.40759	0.9201:0.0:0.0798:0.0	.	48;65	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	E	65;48;48;48;48;48;43;66	ENSP00000311665:K65E;ENSP00000439747:K48E;ENSP00000438894:K48E;ENSP00000438124:K48E;ENSP00000441494:K48E;ENSP00000365564:K48E;ENSP00000443473:K43E;ENSP00000438071:K66E	.	K	+	1	0	PAAF1	73279805	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.294000	0.51787	0.981000	0.38548	0.533000	0.62120	AAA	PAAF1	-	NULL	ENSG00000175575		0.308	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAAF1	HGNC	protein_coding	OTTHUMT00000397885.1	-	0	29	0	A	NM_025155	Missense_Mutation	73602157	1	tier1	-	no_errors	ENST00000310571	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	G	G	73602157	A	G	73602157	5	3	155	1	0	0	0	0	0	0	1	0	11401	260	9	4	207	4	PAAF1	11	73602157	Splice_Site	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	6394488	73602157	61404359	161	39549											
DLG2	1740	genome.wustl.edu	37	chr11	83177803	83177803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggcaatgggatagagctGggcaacttgtaaccgcttga	11	9	14	7	1	0	2	0	1	0	1	0	4	0	3	1	3	3	5	1	3	4	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:83177803G>T	ENST00000532653.1	-	21	2610	c.2308C>A	c.(2308-2310)Cag>Aag	p.Q770K	DLG2_ENST00000537455.1_Missense_Mutation_p.Q538K|DLG2_ENST00000330014.6_Missense_Mutation_p.Q709K|DLG2_ENST00000418306.2_Missense_Mutation_p.Q667K|DLG2_ENST00000426717.2_Missense_Mutation_p.Q252K|DLG2_ENST00000404783.3_Missense_Mutation_p.Q266K|DLG2_ENST00000376104.2_Missense_Mutation_p.Q893K|DLG2_ENST00000543673.1_Missense_Mutation_p.Q893K|DLG2_ENST00000398309.2_Missense_Mutation_p.Q788K|DLG2_ENST00000531015.1_Missense_Mutation_p.Q755K|DLG2_ENST00000524982.1_Missense_Mutation_p.Q784K|DLG2_ENST00000376106.3_Missense_Mutation_p.Q252K|DLG2_ENST00000280241.8_Missense_Mutation_p.Q827K			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	484					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)				GGATAGAGCTGGGCAACTTGT	0.433																																																	0													146	143	144					11																	83177803		1884	4105	5989	SO:0001583	missense	0			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.2308C>A	11.37:g.83177803G>T	ENSP00000435849:p.Gln770Lys		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.Q893K	ENST00000532653.1	37	c.2677		11	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980145	0.92982	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000457267	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.84	5.84	0.93424	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000004	T	0.54013	0.1832	L	0.27975	0.815	0.80722	D	1	D;P;B;D;B;P;P;D	0.71674	0.998;0.947;0.022;0.982;0.198;0.917;0.614;0.997	D;P;B;D;B;D;B;D	0.83275	0.996;0.855;0.101;0.93;0.088;0.915;0.326;0.968	T	0.46091	-0.9216	9	.	.	.	.	20.1454	0.98074	0.0:0.0:1.0:0.0	.	755;770;784;709;266;893;788;667	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	K	788;252;893;667;893;827;266;709;538;252;784;770;893;755;140	ENSP00000381355:Q788K;ENSP00000393049:Q252K;ENSP00000365272:Q893K;ENSP00000402275:Q667K;ENSP00000441994:Q893K;ENSP00000280241:Q827K;ENSP00000385113:Q266K;ENSP00000381353:Q709K;ENSP00000443248:Q538K;ENSP00000365274:Q252K;ENSP00000432894:Q784K;ENSP00000435849:Q770K;ENSP00000433848:Q755K;ENSP00000409133:Q140K	.	Q	-	1	0	DLG2	82855451	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.748000	0.94277	0.650000	0.86243	CAG	DLG2	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like	ENSG00000150672		0.433	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0	133	0	G	NM_001364		83177803	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	83177803	G	T	83177803	3	4	155	1	0	0	0	0	1	0	0	0	4569	1357	47	3	262	3	DLG2	11	83177803	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	9575646	83177803	51828713	162	39550											
SYTL2	54843	genome.wustl.edu	37	chr11	85445679	85445679	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttggggattggagccttGatttgggacccatttgaaag	8	13	14	6	0	0	2	0	2	0	0	0	5	0	5	2	4	1	1	2	4	1	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:85445679G>A	ENST00000528231.1	-	6	967	c.690C>T	c.(688-690)atC>atT	p.I230I	SYTL2_ENST00000527523.1_Silent_p.I182I|SYTL2_ENST00000524452.1_Silent_p.I230I|SYTL2_ENST00000316356.4_Silent_p.I231I|SYTL2_ENST00000389960.4_Silent_p.I230I	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	230					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)		TTGGAGCCTTGATTTGGGACC	0.408																																																	0													110	110	110					11																	85445679		2203	4299	6502	SO:0001819	synonymous_variant	0			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.690C>T	11.37:g.85445679G>A			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.I231	ENST00000528231.1	37	c.693	CCDS53688.1	11																																																																																			SYTL2	-	NULL	ENSG00000137501		0.408	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	-	0	73	0	G	NM_206927		85445679	-1	tier1	-	no_errors	ENST00000316356	ensembl	human	known	74_37	silent	39.53	26	17	SNP	0.074	A	A	85445679	G	A	85445679	2	1	155	1	0	0	0	0	0	0	0	1	15530	1280	45	3		3	SYTL2	11	85445679	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	2267876	85445679	49560837	163	39551											
FOLH1B	219595	genome.wustl.edu	37	chr11	89431638	89431638	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggagtcattcccaggaatTtatgatgctctgtttgatat	9	15	11	6	0	2	2	1	2	1	0	3	4	3	4	1	3	1	2	1	3	3	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:89431638T>G	ENST00000532352.1	+	0	1920							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						TCCCAGGAATTTATGATGCTC	0.458																																																	0													105	105	105					11																	89431638		2201	4296	6497			0			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.89431638T>G				RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-	ENSG00000134612		0.458	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	-	0	103	0	T	NM_153696		89431638	1	tier1	-	no_errors	ENST00000525540	ensembl	human	known	74_37	rna	21.05	60	16	SNP	0.998	G	G	89431638	T	G	89431638	1	3	155	0	1	0	0	0	0	0	0	0	6002	1829	64	4		4	FOLH1B	11	89431638	RNA	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	3985959	89431638	45574878	164	39552											
FAT3	120114	genome.wustl.edu	37	chr11	92613954	92613954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactgtgaatctgagattaCagcctgcttcccaaacccct	12	10	6	13	0	1	2	0	2	1	1	2	3	2	2	4	0	5	1	4	0	4	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:92613954C>T	ENST00000298047.6	+	22	12202	c.12185C>T	c.(12184-12186)aCa>aTa	p.T4062I	FAT3_ENST00000525166.1_Missense_Mutation_p.T3912I|FAT3_ENST00000409404.2_Missense_Mutation_p.T4062I|FAT3_ENST00000533797.1_Missense_Mutation_p.T397I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4062	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)				TCTGAGATTACAGCCTGCTTC	0.502										TCGA Ovarian(4;0.039)																																							0													183	187	186					11																	92613954		1938	4130	6068	SO:0001583	missense	0			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.12185C>T	11.37:g.92613954C>T	ENSP00000298047:p.Thr4062Ile		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T4062I	ENST00000298047.6	37	c.12185		11	.	.	.	.	.	.	.	.	.	.	C	32	5.117803	0.94385	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	6.16	6.16	0.99307	Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98595	0.9530	L	0.56124	1.755	0.80722	D	1	D;P	0.76494	0.999;0.928	D;P	0.67382	0.951;0.65	D	0.99429	1.0935	9	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	4062;4062	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	I	4062;4062;3912;397	ENSP00000298047:T4062I;ENSP00000387040:T4062I;ENSP00000432586:T3912I;ENSP00000436399:T397I	ENSP00000298047:T4062I	T	+	2	0	FAT3	92253602	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.815000	0.48018	2.937000	0.99478	0.650000	0.86243	ACA	FAT3	-	smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000165323		0.502	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding			0	65	0	C	NM_001008781		92613954	1			no_errors	ENST00000298047	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	92613954	C	T	92613954	3	4	155	1	0	0	0	0	1	0	0	0	5713	478	17	3	12271	3	FAT3	11	92613954	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	3182316	92613954	42392562	165	39553											
CNTN5	53942	genome.wustl.edu	37	chr11	99931958	99931958	+	Missense_Mutation	SNP	T	T	C	0	1	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	tcgtagccccgttccaacaaTcacatggatgaaggttaatg	12	10	9	10	2	1	1	1	1	0	0	3	2	2	2	3	2	2	3	3	2	5	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:99931958T>C	ENST00000524871.1	+	10	1285	c.995T>C	c.(994-996)aTc>aCc	p.I332T	CNTN5_ENST00000527185.1_Missense_Mutation_p.I332T|CNTN5_ENST00000418526.2_Missense_Mutation_p.I258T|CNTN5_ENST00000528682.1_Missense_Mutation_p.I332T|CNTN5_ENST00000279463.3_Missense_Mutation_p.I332T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	332	Ig-like C2-type 3.				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)		GTTCCAACAATCACATGGATG	0.418																																																	0													177	164	168					11																	99931958		1922	4135	6057	SO:0001583	missense	0			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.995T>C	11.37:g.99931958T>C	ENSP00000435637:p.Ile332Thr		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.I332T	ENST00000524871.1	37	c.995	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801424	0.70682	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.85859	2.78	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	0.87862	0.2665	10	0.87932	D	0	.	14.7647	0.69629	0.0:0.0:0.0:1.0	.	332;258;332	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	T	332;332;332;258;332	ENSP00000433575:I332T;ENSP00000436185:I332T;ENSP00000435637:I332T;ENSP00000393229:I258T;ENSP00000279463:I332T	ENSP00000279463:I332T	I	+	2	0	CNTN5	99437168	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.997000	0.88414	2.140000	0.66376	0.477000	0.44152	ATC	CNTN5	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149972		0.418	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0	104	0	T	NM_014361		99931958	1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	32.93	54	27	SNP	1.000	C	C	99931958	T	C	99931958	3	2	155	1	0	0	0	0	1	0	0	0	3651	1435	50	4	1025	4	CNTN5	11	99931958	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	7318004	99931958	35074558	166	39554											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103022954	103022954	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaacaattagtaatttgaaAgccaagtgggataaatttga	18	11	9	3	0	0	2	0	2	0	0	0	4	0	3	1	1	2	1	1	1	8	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:103022954A>G	ENST00000375735.2	+	21	3180	c.3036A>G	c.(3034-3036)aaA>aaG	p.K1012K	DYNC2H1_ENST00000398093.3_Silent_p.K1012K|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	1012	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)		GTAATTTGAAAGCCAAGTGGG	0.313																																																	0													62	66	65					11																	103022954		1797	4069	5866	SO:0001819	synonymous_variant	0			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.3036A>G	11.37:g.103022954A>G			O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1012	ENST00000375735.2	37	c.3036	CCDS53701.1	11																																																																																			DYNC2H1	-	NULL	ENSG00000187240		0.313	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	419	0	A	XM_370652		103022954	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	silent	26.98	203	75	SNP	1.000	G	G	103022954	A	G	103022954	2	3	155	1	0	0	0	0	0	0	0	1	4860	69	3	4		4	DYNC2H1	11	103022954	Silent	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	3090996	103022954	31983562	167	39555											
APOA5	116519	genome.wustl.edu	37	chr11	116661515	116661515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctgctcctgcagctcctgcaCgcgcagggccacctgctcca	5	7	10	19	2	0	0	0	0	0	0	3	0	3	0	5	1	5	6	5	1	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:116661515C>T	ENST00000227665.4	-	3	464	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.V144M			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	144					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		AGCTCCTGCACGCGCAGGGCC	0.647																																																	0													64	61	62					11																	116661515		2201	4296	6497	SO:0001583	missense	0			AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.430G>A	11.37:g.116661515C>T	ENSP00000227665:p.Val144Met		B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	pfam_ApoA1_A4_E	p.V144M	ENST00000227665.4	37	c.430	CCDS8376.2	11	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528866	0.27387	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;T	0.74632	-0.86;-0.86;-0.86	4.98	3.14	0.36123	Apolipoprotein/apolipophorin (1);	0.879965	0.09676	N	0.770369	T	0.73171	0.3553	M	0.73962	2.25	0.09310	N	1	B;B	0.25904	0.137;0.069	B;B	0.27608	0.081;0.036	T	0.60337	-0.7283	10	0.33141	T	0.24	-2.9271	9.4133	0.38505	0.0:0.8346:0.0:0.1654	.	141;144	B0YIW1;Q6Q788	.;APOA5_HUMAN	M	144	ENSP00000227665:V144M;ENSP00000445002:V144M;ENSP00000399701:V144M	ENSP00000227665:V144M	V	-	1	0	APOA5	116166725	0.000000	0.05858	0.008000	0.14137	0.871000	0.50021	0.791000	0.26915	0.700000	0.31782	-0.143000	0.13931	GTG	APOA5	-	pfam_ApoA1_A4_E	ENSG00000110243		0.647	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA5	HGNC	protein_coding	OTTHUMT00000106285.2	-	0	76	0	C			116661515	-1	tier1	-	no_errors	ENST00000227665	ensembl	human	known	74_37	missense	33.33	34	17	SNP	0.002	T	T	116661515	C	T	116661515	3	4	155	1	0	0	0	0	1	0	0	0	784	536	19	1	674	1	APOA5	11	116661515	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	13638561	116661515	18345001	168	39556											
MLL	4297	genome.wustl.edu	37	chr11	118366503	118366503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaggaaaacagccacactGagcagcctcctttaatgaag	15	6	10	10	0	0	3	0	2	0	1	1	5	1	4	3	1	4	1	3	1	4	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:118366503G>A	ENST00000389506.5	+	19	5443	c.5443G>A	c.(5443-5445)Gag>Aag	p.E1815K	KMT2A_ENST00000534358.1_Missense_Mutation_p.E1818K|KMT2A_ENST00000354520.4_Missense_Mutation_p.E1777K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1815					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)										CAGCCACACTGAGCAGCCTCC	0.478																																																	0													132	135	134					11																	118366503		2200	4296	6496	SO:0001583	missense	0			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.5443G>A	11.37:g.118366503G>A	ENSP00000374157:p.Glu1815Lys		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.E1815K	ENST00000389506.5	37	c.5443	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712696	0.48517	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82081	-1.57;-1.56;-1.52	5.66	5.66	0.87406	.	0.053759	0.64402	D	0.000001	T	0.56093	0.1962	N	0.02011	-0.69	0.45607	D	0.99854	B;B	0.27229	0.136;0.172	B;B	0.23275	0.045;0.015	T	0.60556	-0.7240	10	0.07175	T	0.84	.	9.8199	0.40876	0.0727:0.1409:0.7863:0.0	.	1818;1815	E9PQG7;Q03164	.;MLL1_HUMAN	K	1818;1815;1777;725	ENSP00000436786:E1818K;ENSP00000374157:E1815K;ENSP00000346516:E1777K	ENSP00000346516:E1777K	E	+	1	0	MLL	117871713	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.525000	0.67110	2.830000	0.97506	0.585000	0.79938	GAG	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	74	0	G	NM_005933		118366503	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	36.96	29	17	SNP	1.000	A	A	118366503	G	A	118366503	3	1	155	1	0	0	0	0	1	0	0	0	9658	1291	45	3	5517	3	MLL	11	118366503	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1704988	118366503	16640013	169	39557											
DDX6	1656	genome.wustl.edu	37	chr11	118636000	118636000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcccctcccatgtgtttgCtgacctggatgcaaatttga	7	13	10	11	0	0	2	0	2	0	0	1	3	1	3	4	2	2	3	4	2	1	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:118636000C>T	ENST00000526070.2	-	6	923	c.563G>A	c.(562-564)aGc>aAc	p.S188N	DDX6_ENST00000534980.1_Missense_Mutation_p.S188N|DDX6_ENST00000264018.4_Missense_Mutation_p.S188N	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	188	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|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)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CATGTGTTTGCTGACCTGGAT	0.413			T	IGH@	B-NHL																																			Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	0													281	271	274					11																	118636000		1909	4133	6042	SO:0001583	missense	0			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"DEAD-boxes"	2747	protein-coding gene	gene with protein product		600326	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.563G>A	11.37:g.118636000C>T	ENSP00000433704:p.Ser188Asn		Q5D048	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S188N	ENST00000526070.2	37	c.563	CCDS44751.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.438136	0.96168	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.04917	3.53;3.53;3.53	5.7	5.7	0.88788	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15305	0.0369	L	0.45581	1.43	0.80722	D	1	P	0.40332	0.713	P	0.49047	0.599	T	0.00102	-1.2063	10	0.87932	D	0	.	19.5067	0.95121	0.0:1.0:0.0:0.0	.	188	P26196	DDX6_HUMAN	N	188	ENSP00000264018:S188N;ENSP00000442266:S188N;ENSP00000433704:S188N	ENSP00000264018:S188N	S	-	2	0	DDX6	118141210	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.808000	0.86044	2.696000	0.92011	0.644000	0.83932	AGC	DDX6	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000110367		0.413	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DDX6	HGNC	protein_coding	OTTHUMT00000389647.2	-	0	89	0	C	NM_004397		118636000	-1	tier1	-	no_errors	ENST00000264018	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	T	T	118636000	C	T	118636000	3	4	155	1	0	0	0	0	1	0	0	0	4386	797	28	3	920	3	DDX6	11	118636000	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	269497	118636000	16370516	170	39558											
GRIK4	2900	genome.wustl.edu	37	chr11	120690507	120690507	+	Missense_Mutation	SNP	A	A	G	1	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	agaggagttcgtcaagttccAgttccagagattcacaaccc	12	9	9	11	1	2	2	2	0	0	2	5	4	4	3	3	1	1	3	3	1	2	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr11:120690507A>G	ENST00000527524.2	+	6	676	c.389A>G	c.(388-390)cAg>cGg	p.Q130R	GRIK4_ENST00000438375.2_Missense_Mutation_p.Q130R	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	130					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GTCAAGTTCCAGTTCCAGAGA	0.552																																																	0													234	237	236					11																	120690507		2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.389A>G	11.37:g.120690507A>G	ENSP00000435648:p.Gln130Arg		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q130R	ENST00000527524.2	37	c.389	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	A	11.87	1.766763	0.31320	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.83419	-1.72;-1.72	4.27	4.27	0.50696	Extracellular ligand-binding receptor (1);	0.537610	0.12025	U	0.506507	D	0.82337	0.5015	L	0.51422	1.61	0.43988	D	0.996689	B;B	0.31209	0.313;0.31	B;B	0.37888	0.187;0.26	T	0.81011	-0.1126	10	0.66056	D	0.02	.	13.5674	0.61826	1.0:0.0:0.0:0.0	.	130;130	A6H8K8;Q16099	.;GRIK4_HUMAN	R	130	ENSP00000435648:Q130R;ENSP00000404063:Q130R	ENSP00000404063:Q130R	Q	+	2	0	GRIK4	120195717	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.070000	0.57548	1.782000	0.52362	0.459000	0.35465	CAG	GRIK4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000149403		0.552	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	-	0	32	0	A	NM_014619		120690507	1	tier1	-	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	23.26	33	10	SNP	1.000	G	G	120690507	A	G	120690507	3	3	155	1	0	0	0	0	1	0	0	0	6803	188	7	4	403	4	GRIK4	11	120690507	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	2054507	120690507	14316009	171	39559											
KCNA5	3741	genome.wustl.edu	37	chr12	5154628	5154628	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagctggggctgctcatcTtcttcctcttcatcggggtc	3	13	13	12	1	5	0	2	0	3	0	8	1	6	1	1	5	2	3	1	5	0	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:5154628T>G	ENST00000252321.3	+	1	1544	c.1315T>G	c.(1315-1317)Ttc>Gtc	p.F439V		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	439					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|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 membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GCTGCTCATCTTCTTCCTCTT	0.592																																																	0													56	52	53					12																	5154628		2203	4297	6500	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1315T>G	12.37:g.5154628T>G	ENSP00000252321:p.Phe439Val		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.F439V	ENST00000252321.3	37	c.1315	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993406	0.54041	.	.	ENSG00000130037	ENST00000252321	D	0.98313	-4.86	4.87	3.73	0.42828	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	M	0.73430	2.235	0.80722	D	1	D	0.56287	0.975	D	0.67900	0.954	D	0.98554	1.0638	10	0.87932	D	0	.	9.8069	0.40799	0.0:0.0804:0.0:0.9196	.	439	P22460	KCNA5_HUMAN	V	439	ENSP00000252321:F439V	ENSP00000252321:F439V	F	+	1	0	KCNA5	5024889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	0.899000	0.36444	0.459000	0.35465	TTC	KCNA5	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_K_chnl,prints_K_chnl_volt-dep_Kv	ENSG00000130037		0.592	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	-	0	36	0	T	NM_002234		5154628	1	tier1	-	no_errors	ENST00000252321	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	G	G	5154628	T	G	5154628	3	3	155	1	0	0	0	0	1	0	0	0	8033	1609	56	4	1317	4	KCNA5	12	5154628	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09		5154628	128697267	172	39560											
PHC1	1911	genome.wustl.edu	37	chr12	9086980	9086980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catggtgtctagacaaatggGtgactcaaaacccccacagg	13	7	10	11	0	2	2	1	1	1	1	2	2	2	2	2	3	1	0	2	3	4	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:9086980G>C	ENST00000543824.1	+	11	2491	c.2159G>C	c.(2158-2160)gGt>gCt	p.G720A	PHC1_ENST00000536844.1_Missense_Mutation_p.G326A|PHC1_ENST00000544916.1_Missense_Mutation_p.G720A|PHC1_ENST00000433083.2_Missense_Mutation_p.G675A			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	720					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	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)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						AGACAAATGGGTGACTCAAAA	0.522																																																	0													69	69	69					12																	9086980		2203	4290	6493	SO:0001583	missense	0			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2159G>C	12.37:g.9086980G>C	ENSP00000440674:p.Gly720Ala		D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.G720A	ENST00000543824.1	37	c.2159	CCDS8597.1	12	.	.	.	.	.	.	.	.	.	.	G	6.556	0.470888	0.12461	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.91	5.02	0.67125	.	0.278870	0.36444	N	0.002585	T	0.44095	0.1277	M	0.64170	1.965	0.49389	D	0.99978	B	0.16603	0.018	B	0.14023	0.01	T	0.36962	-0.9726	10	0.54805	T	0.06	-9.9003	16.2098	0.82148	0.0:0.0:0.8658:0.1342	.	720	P78364	PHC1_HUMAN	A	720;720;675;720;326	ENSP00000440674:G720A;ENSP00000251757:G720A;ENSP00000399194:G675A;ENSP00000437659:G720A;ENSP00000440488:G326A	ENSP00000251757:G720A	G	+	2	0	PHC1	8978247	1.000000	0.71417	0.985000	0.45067	0.016000	0.09150	5.286000	0.65639	1.505000	0.48720	-0.169000	0.13324	GGT	PHC1	-	NULL	ENSG00000111752		0.522	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	HGNC	protein_coding	OTTHUMT00000399115.1	-	0	77	0	G	NM_004426		9086980	1	tier1	-	no_errors	ENST00000543824	ensembl	human	known	74_37	missense	19.67	49	12	SNP	0.975	C	C	9086980	G	C	9086980	3	2	155	1	0	0	0	0	1	0	0	0	11855	1261	44	5	2193	5	PHC1	12	9086980	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	3932352	9086980	124764915	173	39561											
PZP	5858	genome.wustl.edu	37	chr12	9303324	9303324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaccatgaaggaaaaacTtagcgtctgatttgtcacct	14	10	8	9	1	2	3	1	2	1	1	2	4	2	4	2	1	3	0	2	1	5	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:9303324T>C	ENST00000261336.2	-	34	4328	c.4300A>G	c.(4300-4302)Agt>Ggt	p.S1434G	PZP_ENST00000381997.2_Missense_Mutation_p.S1220G	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1434					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						AAGGAAAAACTTAGCGTCTGA	0.383																																					Melanoma(125;1402 1695 4685 34487 38571)												0													110	106	108					12																	9303324		2203	4300	6503	SO:0001583	missense	0			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.4300A>G	12.37:g.9303324T>C	ENSP00000261336:p.Ser1434Gly		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S1434G	ENST00000261336.2	37	c.4300	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	T	2.829	-0.243156	0.05906	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.22743	1.94;1.94	3.95	2.72	0.32119	Alpha-macroglobulin, receptor-binding (3);	1.354810	0.05109	U	0.488557	T	0.23171	0.0560	M	0.73372	2.23	0.09310	N	1	D;B	0.53619	0.961;0.423	B;B	0.38225	0.268;0.155	T	0.28364	-1.0046	10	0.48119	T	0.1	.	5.3898	0.16237	0.1753:0.0:0.1816:0.6431	.	1220;1434	P20742-2;P20742	.;PZP_HUMAN	G	1434;1220	ENSP00000261336:S1434G;ENSP00000371427:S1220G	ENSP00000261336:S1434G	S	-	1	0	PZP	9194591	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.879000	0.28146	0.571000	0.29365	0.460000	0.39030	AGT	PZP	-	pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd	ENSG00000126838		0.383	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	-	0	66	0	T	NM_002864		9303324	-1	tier1	-	no_errors	ENST00000261336	ensembl	human	known	74_37	missense	26.32	28	10	SNP	0.019	C	C	9303324	T	C	9303324	3	2	155	1	0	0	0	0	1	0	0	0	12914	1609	56	4	160	4	PZP	12	9303324	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	216344	9303324	124548571	174	39562											
GRIN2B	2904	genome.wustl.edu	37	chr12	14018892	14018892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacatgagatcacagatgCgggtgatgatgctctttggg	10	10	14	7	1	2	5	1	3	1	3	2	6	2	5	0	2	2	1	0	2	0	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:14018892C>T	ENST00000609686.1	-	2	460	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	84					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)	ATCACAGATGCGGGTGATGAT	0.532																																																	0													180	154	163					12																	14018892		2203	4300	6503	SO:0001583	missense	0				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.251G>A	12.37:g.14018892C>T	ENSP00000477455:p.Arg84His		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R84H	ENST00000609686.1	37	c.251	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532144	0.45073	.	.	ENSG00000150086	ENST00000279593	D	0.86230	-2.09	5.37	5.37	0.77165	.	0.060138	0.64402	D	0.000002	T	0.67599	0.2910	N	0.01122	-1.005	0.41035	D	0.985181	B	0.18166	0.026	B	0.08055	0.003	T	0.68070	-0.5506	10	0.07990	T	0.79	.	19.1153	0.93336	0.0:1.0:0.0:0.0	.	84	Q13224	NMDE2_HUMAN	H	84	ENSP00000279593:R84H	ENSP00000279593:R84H	R	-	2	0	GRIN2B	13910159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.048000	0.71046	2.496000	0.84212	0.563000	0.77884	CGC	GRIN2B	-	superfamily_Peripla_BP_I	ENSG00000273079		0.532	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2		0	46	0	C			14018892	-1			no_errors	ENST00000609686	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	14018892	C	T	14018892	3	4	155	1	0	0	0	0	1	0	0	0	6807	768	27	1	4251	1	GRIN2B	12	14018892	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	4715568	14018892	119833003	175	39563											
ATF7IP	55729	genome.wustl.edu	37	chr12	14609565	14609565	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaataataacatgtcttAcaggtgagaattcatagtct	15	12	7	7	0	3	1	1	1	2	1	3	2	3	1	0	1	3	1	0	1	6	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:14609565A>C	ENST00000540793.1	+	6	2221	c.2066A>C	c.(2065-2067)tAc>tCc	p.Y689S	ATF7IP_ENST00000543189.1_Missense_Mutation_p.Y688S|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000544627.1_Missense_Mutation_p.Y697S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.Y688S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Y689S			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	689	Interaction with SETDB1.				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						AACATGTCTTACAGGTGAGAA	0.343																																																	0													93	83	86					12																	14609565		2203	4300	6503	SO:0001583	missense	0			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.2066A>C	12.37:g.14609565A>C	ENSP00000444589:p.Tyr689Ser		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.Y689S	ENST00000540793.1	37	c.2066	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	A	16.26	3.073394	0.55646	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000013	T	0.45135	0.1327	M	0.61703	1.905	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	1.0;1.0;0.991;0.981;1.0;1.0	D;D;P;P;D;D	0.91635	0.973;0.999;0.73;0.64;0.999;0.999	T	0.38693	-0.9649	10	0.87932	D	0	-7.2987	15.5278	0.75925	1.0:0.0:0.0:0.0	.	697;688;688;689;688;300	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	S	689;688;688;697;689	ENSP00000261168:Y689S;ENSP00000443179:Y688S;ENSP00000445955:Y688S;ENSP00000440440:Y697S;ENSP00000444589:Y689S	ENSP00000261168:Y689S	Y	+	2	0	ATF7IP	14500832	1.000000	0.71417	0.996000	0.52242	0.220000	0.24768	4.020000	0.57189	2.320000	0.78422	0.528000	0.53228	TAC	ATF7IP	-	NULL	ENSG00000171681		0.343	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	-	0	58	0	A	NM_018179		14609565	1	tier1	-	no_errors	ENST00000261168	ensembl	human	known	74_37	missense	34.55	36	19	SNP	1.000	C	C	14609565	A	C	14609565	3	2	155	1	0	0	0	0	1	0	0	0	1088	391	14	4	2088	4	ATF7IP	12	14609565	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	590673	14609565	119242330	176	39564											
SOX5	6660	genome.wustl.edu	37	chr12	23908618	23908618	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccattgcaagaagcttgtcTttccagtcctttgagagtag	9	13	9	10	0	1	2	0	1	1	2	3	3	3	2	3	0	2	3	3	0	3	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:23908618T>C	ENST00000451604.2	-	4	623	c.522A>G	c.(520-522)aaA>aaG	p.K174K	SOX5_ENST00000546136.1_Silent_p.K161K|SOX5_ENST00000381381.2_Silent_p.K161K|SOX5_ENST00000541536.1_Silent_p.K161K|SOX5_ENST00000541847.1_Silent_p.K164K|SOX5_ENST00000309359.1_Silent_p.K161K|SOX5_ENST00000537393.1_Silent_p.K139K|SOX5_ENST00000545921.1_Silent_p.K164K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	174					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAAGCTTGTCTTTCCAGTCCT	0.363																																																	0													138	131	133					12																	23908618		2203	4299	6502	SO:0001819	synonymous_variant	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.522A>G	12.37:g.23908618T>C			B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.K174	ENST00000451604.2	37	c.522	CCDS8699.1	12																																																																																			SOX5	-	NULL	ENSG00000134532		0.363	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	-	0	75	0	T	NM_006940		23908618	-1	tier1	-	no_errors	ENST00000451604	ensembl	human	known	74_37	silent	36.84	24	14	SNP	1.000	C	C	23908618	T	C	23908618	2	2	155	1	0	0	0	0	0	0	0	1	14999	1606	56	4		4	SOX5	12	23908618	Silent	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	9299053	23908618	109943277	177	39565											
KRT18	3875	genome.wustl.edu	37	chr12	53345361	53345361	+	Missense_Mutation	SNP	A	A	G	1	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	tcgccaagatcatggcagacAtccgggcccaatatgacgag	12	6	11	12	3	1	3	1	1	0	2	3	4	2	3	3	2	0	1	3	2	3	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:53345361A>G	ENST00000388835.3	+	4	964	c.754A>G	c.(754-756)Atc>Gtc	p.I252V	KRT18_ENST00000388837.2_Missense_Mutation_p.I252V|KRT8_ENST00000552551.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Missense_Mutation_p.I252V|KRT8_ENST00000549198.1_5'Flank	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	252	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CATGGCAGACATCCGGGCCCA	0.572																																																	0													48	53	51					12																	53345361		2203	4300	6503	SO:0001583	missense	0				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.754A>G	12.37:g.53345361A>G	ENSP00000373487:p.Ile252Val		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.I252V	ENST00000388835.3	37	c.754	CCDS31809.1	12	.	.	.	.	.	.	.	.	.	.	a	12.04	1.817653	0.32145	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.89270	-2.49;-2.49;-2.49	3.59	3.59	0.41128	Filament (1);	0.236488	0.28647	N	0.014606	D	0.86493	0.5946	M	0.67700	2.07	0.39250	D	0.964012	B;B	0.22541	0.071;0.025	B;B	0.29716	0.106;0.084	D	0.85104	0.0959	10	0.54805	T	0.06	.	7.1356	0.25527	0.77:0.23:0.0:0.0	.	252;252	F8VZY9;P05783	.;K1C18_HUMAN	V	252	ENSP00000373489:I252V;ENSP00000447278:I252V;ENSP00000373487:I252V	ENSP00000373487:I252V	I	+	1	0	KRT18	51631628	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	4.886000	0.63149	1.872000	0.54250	0.402000	0.26972	ATC	KRT18	-	pfam_IF,prints_Keratin_I	ENSG00000111057		0.572	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1	-	0	85	0	A	NM_199187		53345361	1	tier1	-	no_errors	ENST00000388835	ensembl	human	known	74_37	missense	34.33	44	23	SNP	1.000	G	G	53345361	A	G	53345361	3	3	155	1	0	0	0	0	1	0	0	0	8482	217	8	4	768	4	KRT18	12	53345361	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	29436743	53345361	80506534	178	39566											
HOXC9	3225	genome.wustl.edu	37	chr12	54396372	54396372	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggttctcaatctcaccGagcggcaggtcaaaatctgg	9	8	11	13	3	4	0	3	0	3	0	6	1	4	0	2	4	1	2	2	4	3	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:54396372G>T	ENST00000303450.4	+	2	767	c.697G>T	c.(697-699)Gag>Tag	p.E233*	RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000508190.1_Nonsense_Mutation_p.E233*|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	233					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						CAATCTCACCGAGCGGCAGGT	0.478																																																	0													64	68	66					12																	54396372		2203	4300	6503	SO:0001587	stop_gained	0				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.697G>T	12.37:g.54396372G>T	ENSP00000302836:p.Glu233*		B2RCN7|Q9H1I0	Nonsense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.E233*	ENST00000303450.4	37	c.697	CCDS8869.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376329	0.82682	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	.	.	.	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.6908	0.77450	0.0:0.0:1.0:0.0	.	.	.	.	X	233	.	ENSP00000302836:E233X	E	+	1	0	HOXC9	52682639	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.490000	0.97952	2.326000	0.78906	0.561000	0.74099	GAG	HOXC9	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000180806		0.478	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC9	HGNC	protein_coding	OTTHUMT00000358958.1	-	0	113	0	G			54396372	1	tier1	-	no_errors	ENST00000303450	ensembl	human	known	74_37	nonsense	32.79	41	20	SNP	1.000	T	T	54396372	G	T	54396372	4	4	155	1	0	0	0	0	0	1	0	0	7344	1059	37	2	703	2	HOXC9	12	54396372	Nonsense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1051011	54396372	79455523	179	39567											
KIAA0748	9840	genome.wustl.edu	37	chr12	55356627	55356627	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatagggagaagtgggcaacTtcttaccctcagcagggggc	10	7	15	9	0	2	1	1	0	1	1	2	3	2	1	1	4	3	2	1	4	4	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:55356627T>G	ENST00000449076.1	-	9	1187	c.1055A>C	c.(1054-1056)aAg>aCg	p.K352T	TESPA1_ENST00000531122.1_Missense_Mutation_p.K214T|TESPA1_ENST00000316577.8_Missense_Mutation_p.K352T|TESPA1_ENST00000532804.1_Missense_Mutation_p.K214T|TESPA1_ENST00000524622.1_Missense_Mutation_p.K214T|TESPA1_ENST00000524959.1_5'Flank	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	352					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											AGTGGGCAACTTCTTACCCTC	0.502																																																	0													54	56	55					12																	55356627		1961	4156	6117	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1055A>C	12.37:g.55356627T>G	ENSP00000400892:p.Lys352Thr		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.K352T	ENST00000449076.1	37	c.1055	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	T	9.966	1.224038	0.22457	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	4.15	1.75	0.24633	.	1.297770	0.05290	N	0.520833	T	0.47266	0.1436	L	0.29908	0.895	0.09310	N	1	B	0.29037	0.231	B	0.22601	0.04	T	0.41574	-0.9501	10	0.66056	D	0.02	-12.3985	3.5193	0.07736	0.1948:0.1051:0.0:0.7001	.	352	A2RU30	K0748_HUMAN	T	214;214;352;352;214	ENSP00000435622:K214T;ENSP00000432030:K214T;ENSP00000400892:K352T;ENSP00000312679:K352T;ENSP00000433098:K214T	ENSP00000312679:K352T	K	-	2	0	KIAA0748	53642894	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.092000	0.15066	0.372000	0.24591	-0.256000	0.11100	AAG	TESPA1	-	NULL	ENSG00000135426		0.502	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	-	0	31	0	T	NM_001098815		55356627	-1	tier1	-	no_errors	ENST00000316577	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.000	G	G	55356627	T	G	55356627	3	3	155	1	0	0	0	0	1	0	0	0	8217	1609	56	4	518	4	KIAA0748	12	55356627	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	960255	55356627	78495268	180	39568											
C12orf66	144577	genome.wustl.edu	37	chr12	64609724	64609724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggatggaatccttcctGctgaagaaagactggccccc	9	8	12	12	1	0	3	0	1	0	2	2	5	2	5	4	3	2	1	4	3	3	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:64609724G>C	ENST00000398055.3	-	2	308	c.255C>G	c.(253-255)agC>agG	p.S85R	C12orf66_ENST00000544871.1_Missense_Mutation_p.S32R|C12orf66_ENST00000311915.8_Missense_Mutation_p.S85R	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	85										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						AATCCTTCCTGCTGAAGAAAG	0.502																																																	0													42	45	44					12																	64609724		1973	4150	6123	SO:0001583	missense	0				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.255C>G	12.37:g.64609724G>C	ENSP00000381132:p.Ser85Arg		C9JX54|Q8IYA0	Missense_Mutation	SNP	pfam_DUF2003	p.S85R	ENST00000398055.3	37	c.255	CCDS41803.1	12	.	.	.	.	.	.	.	.	.	.	G	7.708	0.694614	0.15039	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.39406	1.08;1.08;1.08	5.73	4.83	0.62350	.	0.075977	0.85682	N	0.000000	T	0.35098	0.0920	L	0.39397	1.21	0.80722	D	1	B;P	0.38551	0.0;0.636	B;B	0.35813	0.002;0.211	T	0.07770	-1.0755	9	.	.	.	-16.1247	16.052	0.80772	0.0:0.0:0.8646:0.1354	.	32;85	F5H2Q3;Q96MD2	.;CL066_HUMAN	R	85;32;85	ENSP00000311486:S85R;ENSP00000445481:S32R;ENSP00000381132:S85R	.	S	-	3	2	C12orf66	62895991	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	5.337000	0.65941	1.402000	0.46780	0.491000	0.48974	AGC	C12orf66	-	pfam_DUF2003	ENSG00000174206		0.502	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	-	0	55	0	G	NM_152440		64609724	-1	tier1	-	no_errors	ENST00000398055	ensembl	human	known	74_37	missense	25.00	27	9	SNP	1.000	C	C	64609724	G	C	64609724	3	2	155	1	0	0	0	0	1	0	0	0	1714	1310	46	5	1090	5	C12orf66	12	64609724	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	9253097	64609724	69242171	181	39569											
OSBPL8	114882	genome.wustl.edu	37	chr12	76786525	76786525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactccaaagcatccatccaGcaccttcctaaaagaacaca	17	6	3	15	0	0	1	0	0	0	1	4	1	4	1	5	0	4	2	5	0	5	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:76786525G>A	ENST00000261183.3	-	10	1244	c.765C>T	c.(763-765)tgC>tgT	p.C255C	OSBPL8_ENST00000393249.2_Silent_p.C213C|OSBPL8_ENST00000393250.4_Silent_p.C213C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	255	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CATCCATCCAGCACCTTCCTA	0.363																																																	0													134	118	123					12																	76786525		2203	4300	6503	SO:0001819	synonymous_variant	0			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.765C>T	12.37:g.76786525G>A			A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.C255	ENST00000261183.3	37	c.765	CCDS31862.1	12																																																																																			OSBPL8	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000091039		0.363	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	-	0	63	0	G	NM_020841		76786525	-1	tier1	-	no_errors	ENST00000261183	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	A	A	76786525	G	A	76786525	2	1	155	1	0	0	0	0	0	0	0	1	11322	963	34	3		3	OSBPL8	12	76786525	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	12176801	76786525	57065370	182	39570											
SYT1	6857	genome.wustl.edu	37	chr12	79679573	79679573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttctttcagtgccacCgtgggccttaattgcaatag	7	15	10	9	1	2	0	1	0	1	0	2	0	2	0	3	1	2	2	3	1	3	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:79679573C>T	ENST00000261205.4	+	5	830	c.173C>T	c.(172-174)cCg>cTg	p.P58L	SYT1_ENST00000552744.1_Missense_Mutation_p.P58L|SYT1_ENST00000457153.2_Missense_Mutation_p.P58L|SYT1_ENST00000393240.3_Missense_Mutation_p.P58L	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	58					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TCAGTGCCACCGTGGGCCTTA	0.373																																																	0													134	123	127					12																	79679573		2203	4300	6503	SO:0001583	missense	0				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.173C>T	12.37:g.79679573C>T	ENSP00000261205:p.Pro58Leu		Q6AI31	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.P58L	ENST00000261205.4	37	c.173	CCDS9017.1	12	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889834	0.91889	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.93	5.93	0.95920	.	0.052393	0.85682	D	0.000000	T	0.44477	0.1295	L	0.39245	1.2	0.80722	D	1	B;B	0.19935	0.04;0.04	B;B	0.08055	0.003;0.003	T	0.19192	-1.0313	10	0.46703	T	0.11	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	58;58	Q6AI31;P21579	.;SYT1_HUMAN	L	58	ENSP00000376932:P58L;ENSP00000261205:P58L;ENSP00000391056:P58L;ENSP00000447035:P58L;ENSP00000447575:P58L;ENSP00000448861:P58L;ENSP00000401559:P58L	ENSP00000261205:P58L	P	+	2	0	SYT1	78203704	1.000000	0.71417	0.979000	0.43373	0.956000	0.61745	5.968000	0.70413	2.826000	0.97356	0.655000	0.94253	CCG	SYT1	-	NULL	ENSG00000067715		0.373	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	HGNC	protein_coding	OTTHUMT00000259415.1	-	0	53	0	C	NM_005639		79679573	1	tier1	-	no_errors	ENST00000261205	ensembl	human	known	74_37	missense	25.86	43	15	SNP	1.000	T	T	79679573	C	T	79679573	3	4	155	1	0	0	0	0	1	0	0	0	15512	652	23	1	179	1	SYT1	12	79679573	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	2893048	79679573	54172322	183	39571											
ACSS3	79611	genome.wustl.edu	37	chr12	81593157	81593157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctggagaacgatgtgatGtagagaccctggaatggtcc	10	9	15	7	1	0	3	0	1	0	2	1	7	1	4	2	4	1	2	2	4	3	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:81593157G>T	ENST00000548058.1	+	9	2198	c.1288G>T	c.(1288-1290)Gta>Tta	p.V430L	ACSS3_ENST00000261206.3_Missense_Mutation_p.V429L|ACSS3_ENST00000548324.1_Missense_Mutation_p.V112L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	430						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						ACGATGTGATGTAGAGACCCT	0.348																																																	0													85	80	81					12																	81593157		2203	4300	6503	SO:0001583	missense	0				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.1288G>T	12.37:g.81593157G>T	ENSP00000449535:p.Val430Leu		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V430L	ENST00000548058.1	37	c.1288	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946807	0.53186	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.40756	1.02;1.02;1.02	6.05	3.25	0.37280	AMP-dependent synthetase/ligase (1);	0.116033	0.64402	D	0.000013	T	0.31513	0.0799	L	0.40543	1.245	0.44611	D	0.997582	B;P	0.38617	0.001;0.64	B;B	0.36567	0.004;0.228	T	0.12604	-1.0541	10	0.87932	D	0	-12.3785	7.9522	0.30021	0.1396:0.0:0.7278:0.1325	.	112;430	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	L	430;429;112	ENSP00000449535:V430L;ENSP00000261206:V429L;ENSP00000448965:V112L	ENSP00000261206:V429L	V	+	1	0	ACSS3	80117288	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.464000	0.45067	0.891000	0.36235	-0.143000	0.13931	GTA	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.348	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0	97	0	G	NM_024560		81593157	1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	81593157	G	T	81593157	3	4	155	1	0	0	0	0	1	0	0	0	190	1377	48	3	1322	3	ACSS3	12	81593157	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1913584	81593157	52258738	184	39572											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85446011	85446011	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagagaaaatttggaaagaGaaatttaaacagcatgaggt	20	8	11	2	0	0	3	0	1	0	2	0	7	0	4	0	2	2	1	0	2	7	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:85446011G>C	ENST00000393217.2	+	7	796	c.735G>C	c.(733-735)gaG>gaC	p.E245D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	245	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTGGAAAGAGAAATTTAAAC	0.259																																																	0													69	81	77					12																	85446011		2189	4270	6459	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.735G>C	12.37:g.85446011G>C	ENSP00000376910:p.Glu245Asp		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E245D	ENST00000393217.2	37	c.735	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602066	0.28534	.	.	ENSG00000133640	ENST00000256007;ENST00000393217	T	0.60797	0.16	5.41	-1.72	0.08107	.	0.323644	0.30949	N	0.008542	T	0.43344	0.1243	L	0.46157	1.445	0.25423	N	0.988255	B	0.29378	0.243	B	0.34452	0.183	T	0.28650	-1.0037	10	0.34782	T	0.22	.	4.7373	0.12995	0.5065:0.0:0.3412:0.1522	.	245	Q96JM4	LRIQ1_HUMAN	D	245	ENSP00000376910:E245D	ENSP00000256007:E245D	E	+	3	2	LRRIQ1	83970142	0.859000	0.29813	0.992000	0.48379	0.356000	0.29392	-0.310000	0.08135	-0.272000	0.09259	-0.350000	0.07774	GAG	LRRIQ1	-	NULL	ENSG00000133640		0.259	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	48	0	G	NM_032165		85446011	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.989	C	C	85446011	G	C	85446011	3	2	155	1	0	0	0	0	1	0	0	0	9064	933	33	5	757	5	LRRIQ1	12	85446011	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	3852854	85446011	48405884	185	39573											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85518039	85518039	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcaaaatggagtcttctActcttgtgcacgtgaaggtg	9	13	11	8	1	4	1	0	1	4	0	4	2	4	2	0	2	3	2	0	2	4	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:85518039A>G	ENST00000393217.2	+	17	3810	c.3749A>G	c.(3748-3750)tAc>tGc	p.Y1250C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1250										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAGTCTTCTACTCTTGTGCA	0.473																																																	0													103	106	105					12																	85518039		2203	4300	6503	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3749A>G	12.37:g.85518039A>G	ENSP00000376910:p.Tyr1250Cys		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.Y1250C	ENST00000393217.2	37	c.3749	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	A	10.40	1.340310	0.24339	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.50813	0.73	5.45	-2.45	0.06481	.	2.919130	0.02481	N	0.088491	T	0.26521	0.0648	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	0.09530	-1.0670	10	0.38643	T	0.18	.	0.7805	0.01040	0.2947:0.11:0.1785:0.4168	.	1250;1225	Q96JM4;C9JI57	LRIQ1_HUMAN;.	C	1250;1225;1250	ENSP00000376910:Y1250C	ENSP00000256007:Y1250C	Y	+	2	0	LRRIQ1	84042170	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.296000	0.19083	-0.233000	0.09797	0.377000	0.23210	TAC	LRRIQ1	-	NULL	ENSG00000133640		0.473	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	52	0	A	NM_032165		85518039	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	25.93	20	7	SNP	0.000	G	G	85518039	A	G	85518039	3	3	155	1	0	0	0	0	1	0	0	0	9064	391	14	4	3811	4	LRRIQ1	12	85518039	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	72028	85518039	48333856	186	39574											
ANO4	121601	genome.wustl.edu	37	chr12	101510523	101510523	+	Silent	SNP	T	T	C	0	1	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	tctgactttgagaaccgatcTgagcctgaatctgatggcag	10	11	11	9	1	3	5	0	5	3	1	3	7	3	5	2	1	2	1	2	1	2	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:101510523T>C	ENST00000392977.3	+	25	2727	c.2517T>C	c.(2515-2517)tcT>tcC	p.S839S	ANO4_ENST00000299222.9_Silent_p.S359S|ANO4_ENST00000550015.1_Silent_p.S359S|ANO4_ENST00000392979.3_Silent_p.S804S			Q32M45	ANO4_HUMAN	anoctamin 4	839					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAACCGATCTGAGCCTGAAT	0.512										HNSCC(74;0.22)																																							0													250	224	233					12																	101510523		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2517T>C	12.37:g.101510523T>C			Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	pfam_Anoctamin	p.S839	ENST00000392977.3	37	c.2517		12																																																																																			ANO4	-	pfam_Anoctamin	ENSG00000151572		0.512	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	-	0	95	0	T	NM_178826		101510523	1	tier1	-	no_errors	ENST00000392977	ensembl	human	known	74_37	silent	27.69	47	18	SNP	0.996	C	C	101510523	T	C	101510523	2	2	155	1	0	0	0	0	0	0	0	1	699	1567	55	4		4	ANO4	12	101510523	Silent	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	15992484	101510523	32341372	187	39575											
UTP20	27340	genome.wustl.edu	37	chr12	101777388	101777388	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatagacaaggtaaagccgtAtctcccaatgatcatagctc	14	9	8	10	1	2	2	1	1	1	1	4	3	2	2	2	1	2	3	2	1	7	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:101777388A>T	ENST00000261637.4	+	60	8171	c.7997A>T	c.(7996-7998)tAt>tTt	p.Y2666F		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2666					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						GTAAAGCCGTATCTCCCAATG	0.448																																																	0													166	143	151					12																	101777388		2203	4300	6503	SO:0001583	missense	0			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.7997A>T	12.37:g.101777388A>T	ENSP00000261637:p.Tyr2666Phe		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.Y2666F	ENST00000261637.4	37	c.7997	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	A	9.025	0.985911	0.18889	.	.	ENSG00000120800	ENST00000261637	T	0.04454	3.62	5.75	3.07	0.35406	.	0.060776	0.64402	D	0.000002	T	0.02970	0.0088	N	0.12182	0.205	0.46185	D	0.998915	B	0.16166	0.016	B	0.09377	0.004	T	0.50634	-0.8805	10	0.21014	T	0.42	-11.8307	11.2225	0.48864	0.6567:0.0:0.0:0.3432	.	2666	O75691	UTP20_HUMAN	F	2666	ENSP00000261637:Y2666F	ENSP00000261637:Y2666F	Y	+	2	0	UTP20	100301519	1.000000	0.71417	0.650000	0.29550	0.034000	0.12701	4.699000	0.61796	0.981000	0.38548	0.519000	0.50382	TAT	UTP20	-	NULL	ENSG00000120800		0.448	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1		0	77	0	A	NM_014503		101777388	1			no_errors	ENST00000261637	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.987	T	T	101777388	A	T	101777388	3	4	155	1	0	0	0	0	1	0	0	0	17148	449	16	5	8235	5	UTP20	12	101777388	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	266865	101777388	32074507	188	39576											
GIT2	9815	genome.wustl.edu	37	chr12	110370786	110370788	+	In_Frame_Del	DEL	GTT	GTT	-																															gcggtgccctgcccttgtcaGttgttgttctctttggtggt																										TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	GTT	GTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:110370786_110370788delGTT	ENST00000355312.3	-	20	2274_2276	c.2275_2277delAAC	c.(2275-2277)aacdel	p.N759del	GIT2_ENST00000356259.4_In_Frame_Del_p.N646del|GIT2_ENST00000360185.4_In_Frame_Del_p.N709del|GIT2_ENST00000551209.1_In_Frame_Del_p.N708del|GIT2_ENST00000361006.5_In_Frame_Del_p.N729del|GIT2_ENST00000548655.1_5'Flank|GIT2_ENST00000553118.1_In_Frame_Del_p.N631del|GIT2_ENST00000338373.5_In_Frame_Del_p.N661del|GIT2_ENST00000354574.4_In_Frame_Del_p.N681del|GIT2_ENST00000457474.2_In_Frame_Del_p.N681del|GIT2_ENST00000343646.5_In_Frame_Del_p.N649del	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	759					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						GCCCTTGTCAGTTGTTGTTCTCT	0.483																																																	0									,,,,	4,4260		2,0,2130					,,,,	4.4	1			143	5,8249		2,1,4124	no	coding,coding,coding,coding,coding	GIT2	NM_057170.3,NM_057169.3,NM_014776.3,NM_001135214.1,NM_001135213.1	,,,,	4,1,6254	A1A1,A1R,RR		0.0606,0.0938,0.0719	,,,,	,,,,		9,12509				SO:0001651	inframe_deletion	0			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.2275_2277delAAC	12.37:g.110370792_110370794delGTT	ENSP00000347464:p.Asn759del		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	In_Frame_Del	DEL	pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP	p.N759in_frame_del	ENST00000355312.3	37	c.2277_2275	CCDS9138.1	12																																																																																			GIT2	-	NULL	ENSG00000139436		0.483	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIT2	HGNC	protein_coding	OTTHUMT00000403407.1		0	47	0	GTT	NM_057169		110370788	-1	tier1		no_errors	ENST00000355312	ensembl	human	known	74_37	in_frame_del	26.47	25	9	DEL	1.000:1.000:1.000	-	-	110370788	GTT	-	110370786	7	5	155	1	0	1	0	1	0	0	0	0	6423	1020	36	0	6	0	GIT2	12	110370786	In_Frame_Del	DEL	GTT	TCGA-V5-A7RB-01A-11D-A351-09	8593398	110370786	23481109	189	39577											
MSI1	4440	genome.wustl.edu	37	chr12	120805876	120805876	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacccccgcctggtccatgaAagtgacgaagccgaaacccc	11	4	9	17	3	0	2	0	2	0	0	1	4	1	2	7	1	2	0	7	1	3	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr12:120805876A>C	ENST00000257552.2	-	4	290	c.202T>G	c.(202-204)Ttc>Gtc	p.F68V	RPS27P25_ENST00000477404.1_RNA	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	68	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTCCATGAAAGTGACGAAG	0.652																																																	0													39	34	36					12																	120805876		2203	4300	6503	SO:0001583	missense	0			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.202T>G	12.37:g.120805876A>C	ENSP00000257552:p.Phe68Val		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F68V	ENST00000257552.2	37	c.202	CCDS9196.1	12	.	.	.	.	.	.	.	.	.	.	A	19.39	3.818768	0.71028	.	.	ENSG00000135097	ENST00000257552	T	0.41400	1.0	3.24	3.24	0.37175	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.114428	0.36972	N	0.002304	T	0.69495	0.3117	M	0.93550	3.43	0.58432	D	0.999999	D	0.60575	0.988	D	0.68765	0.96	T	0.77702	-0.2489	10	0.87932	D	0	.	11.6848	0.51479	1.0:0.0:0.0:0.0	.	68	O43347	MSI1H_HUMAN	V	68	ENSP00000257552:F68V	ENSP00000257552:F68V	F	-	1	0	MSI1	119290259	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.672000	0.91181	1.476000	0.48215	0.254000	0.18369	TTC	MSI1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000135097		0.652	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSI1	HGNC	protein_coding	OTTHUMT00000403629.1	-	0	78	0	A	NM_002442		120805876	-1	tier1	-	no_errors	ENST00000257552	ensembl	human	known	74_37	missense	26.03	53	19	SNP	1.000	C	C	120805876	A	C	120805876	3	2	155	1	0	0	0	0	1	0	0	0	9913	14	1	4	930	4	MSI1	12	120805876	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	10435090	120805876	13046019	190	39578											
MPHOSPH8	54737	genome.wustl.edu	37	chr13	20220923	20220923	+	Missense_Mutation	SNP	A	A	T	1	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	taaaaagggtgaaataagagAtttaaagacgaaaacaagag	23	6	10	2	1	0	4	0	1	0	3	0	6	0	4	0	1	1	0	0	1	10	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr13:20220923A>T	ENST00000361479.5	+	3	778	c.710A>T	c.(709-711)gAt>gTt	p.D237V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.D237V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	237	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)		gaaataagagatttaaagacg	0.303																																																	0													20	23	22					13																	20220923		2126	4265	6391	SO:0001583	missense	0			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.710A>T	13.37:g.20220923A>T	ENSP00000355388:p.Asp237Val		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.D237V	ENST00000361479.5	37	c.710	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118793	0.77323	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.38560	1.13;1.13	6.02	6.02	0.97574	.	0.690059	0.15602	N	0.253880	T	0.64800	0.2631	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.993;0.999;1.0	D;D;D	0.74674	0.927;0.981;0.984	T	0.65331	-0.6194	10	0.87932	D	0	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	237;237;237	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	V	237	ENSP00000414663:D237V;ENSP00000355388:D237V	ENSP00000355388:D237V	D	+	2	0	MPHOSPH8	19118923	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.722000	0.74735	2.304000	0.77564	0.528000	0.53228	GAT	MPHOSPH8	-	NULL	ENSG00000196199		0.303	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	-	0	50	0	A	NM_017520		20220923	1	tier1	-	no_errors	ENST00000414242	ensembl	human	known	74_37	missense	38.30	29	18	SNP	1.000	T	T	20220923	A	T	20220923	3	4	155	1	0	0	0	0	1	0	0	0	9765	333	12	5	720	5	MPHOSPH8	13	20220923	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09		20220923	94948955	191	39579											
C13orf34	79866	genome.wustl.edu	37	chr13	73305435	73305435	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagactccagggaaatttaGatggtctattgatcaactag	14	12	9	6	0	2	3	1	1	1	2	3	4	3	4	1	2	1	0	1	2	6	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr13:73305435G>C	ENST00000390667.5	+	3	267	c.170G>C	c.(169-171)aGa>aCa	p.R57T	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Intron	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	57					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)										GGGAAATTTAGATGGTCTATT	0.323																																																	0													102	94	96					13																	73305435		1809	4079	5888	SO:0001583	missense	0			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.170G>C	13.37:g.73305435G>C	ENSP00000375082:p.Arg57Thr		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	prints_Aurora_borealis_protien	p.R57T	ENST00000390667.5	37	c.170	CCDS9446.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.102380|4.102380	0.76983|0.76983	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000390667|ENST00000377814	T|.	0.35236|.	1.32|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.131922|.	0.64402|.	D|.	0.000001|.	T|.	0.71169|.	0.3308|.	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D|.	0.62365|.	0.991;0.991|.	P;P|.	0.60541|.	0.876;0.876|.	T|.	0.67241|.	-0.5720|.	10|.	0.62326|.	D|.	0.03|.	-24.4438|-24.4438	18.4912|18.4912	0.90848|0.90848	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	57;57|.	A8K631;Q6PGQ7|.	.;BORA_HUMAN|.	T|Y	57|34	ENSP00000375082:R57T|.	ENSP00000375082:R57T|.	R|X	+|+	2|3	0|2	BORA|BORA	72203436|72203436	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.281000|5.281000	0.65609|0.65609	2.730000|2.730000	0.93505|0.93505	0.650000|0.650000	0.86243|0.86243	AGA|TAG	BORA	-	prints_Aurora_borealis_protien	ENSG00000136122		0.323	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	-	0	65	0	G	NM_024808		73305435	1	tier1	-	no_errors	ENST00000390667	ensembl	human	known	74_37	missense	36.67	38	22	SNP	1.000	C	C	73305435	G	C	73305435	3	2	155	1	0	0	0	0	1	0	0	0	1733	942	33	5	176	5	C13orf34	13	73305435	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	53084512	73305435	41864443	192	39580											
GPC5	2262	genome.wustl.edu	37	chr13	92346119	92346119	+	Missense_Mutation	SNP	A	A	C	1	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	acaggctcacctcaatggacAaaaattattggaacaggtaa	17	8	8	8	0	2	0	2	0	0	0	2	2	2	2	1	4	1	2	1	4	6	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr13:92346119A>C	ENST00000377067.3	+	3	1376	c.1004A>C	c.(1003-1005)cAa>cCa	p.Q335P		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	335					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTCAATGGACAAAAATTATTG	0.393																																																	0													82	85	84					13																	92346119		2203	4300	6503	SO:0001583	missense	0			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1004A>C	13.37:g.92346119A>C	ENSP00000366267:p.Gln335Pro		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.Q335P	ENST00000377067.3	37	c.1004	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	A	1.616	-0.522730	0.04141	.	.	ENSG00000179399	ENST00000377067	T	0.49720	0.77	5.65	3.11	0.35812	.	0.514311	0.21445	N	0.074430	T	0.25044	0.0608	N	0.04746	-0.17	0.25234	N	0.989809	B	0.02656	0.0	B	0.06405	0.002	T	0.14309	-1.0477	10	0.17369	T	0.5	1.1779	12.5494	0.56218	0.5739:0.4261:0.0:0.0	.	335	P78333	GPC5_HUMAN	P	335	ENSP00000366267:Q335P	ENSP00000366267:Q335P	Q	+	2	0	GPC5	91144120	0.933000	0.31639	0.071000	0.20095	0.957000	0.61999	2.104000	0.41815	0.373000	0.24621	0.528000	0.53228	CAA	GPC5	-	pfam_Glypican	ENSG00000179399		0.393	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	-	0	18	0	A	NM_004466		92346119	1	tier1	-	no_errors	ENST00000377067	ensembl	human	known	74_37	missense	42.86	8	6	SNP	0.629	C	C	92346119	A	C	92346119	3	2	155	1	0	0	0	0	1	0	0	0	6627	130	5	4	1014	4	GPC5	13	92346119	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	19040684	92346119	22823759	193	39581											
ZNF828	283489	genome.wustl.edu	37	chr13	115091442	115091444	+	In_Frame_Del	DEL	TAT	TAT	-																															tgaagcgtggaaaaggaaagTattattgcaaaatttgttgc																										TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	TAT	TAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr13:115091442_115091444delTAT	ENST00000361283.1	+	3	2434_2436	c.2125_2127delTAT	c.(2125-2127)tatdel	p.Y710del		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	710	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)										AAAAGGAAAGTATTATTGCAAAA	0.355																																																	0																																										SO:0001651	inframe_deletion	0			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.2125_2127delTAT	13.37:g.115091445_115091447delTAT	ENSP00000354730:p.Tyr710del		B3KU06|Q6P181|Q8NC88|Q9BST0	In_Frame_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y710in_frame_del	ENST00000361283.1	37	c.2125_2127	CCDS9545.1	13																																																																																			CHAMP1	-	smart_Znf_C2H2-like	ENSG00000198824		0.355	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAMP1	HGNC	protein_coding	OTTHUMT00000045977.2		0	112	0	TAT	NM_032436		115091444	1	tier1		no_errors	ENST00000361283	ensembl	human	known	74_37	in_frame_del	27.14	51	19	DEL	1.000:1.000:1.000	-	-	115091444	TAT	-	115091442	7	5	155	1	0	1	0	1	0	0	0	0	18229	1638	57	0	2127	0	ZNF828	13	115091442	In_Frame_Del	DEL	TAT	TCGA-V5-A7RB-01A-11D-A351-09	22745323	115091442	78436	194	39582											
C14orf166	51637	genome.wustl.edu	37	chr14	52465219	52465219	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtttttatagctgaaaaAtacaaggatttagtacctga	14	14	7	6	0	0	2	0	2	0	0	0	3	0	3	2	1	3	3	2	1	8	8			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr14:52465219A>T	ENST00000261700.3	+	4	459	c.294A>T	c.(292-294)aaA>aaT	p.K98N	C14orf166_ENST00000556760.1_Missense_Mutation_p.K98N	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	98					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)					TAGCTGAAAAATACAAGGATT	0.303																																																	0													85	89	88					14																	52465219		2201	4293	6494	SO:0001583	missense	0			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.294A>T	14.37:g.52465219A>T	ENSP00000261700:p.Lys98Asn			Missense_Mutation	SNP	pfam_UPF0568	p.K98N	ENST00000261700.3	37	c.294	CCDS9705.1	14	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779410	0.70107	.	.	ENSG00000087302	ENST00000261700;ENST00000556760;ENST00000553362	.	.	.	6.03	0.629	0.17687	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.66056	-0.6018	9	0.40728	T	0.16	.	10.2899	0.43590	0.5831:0.0:0.4169:0.0	.	98	Q9Y224	CN166_HUMAN	N	98;98;35	.	ENSP00000261700:K98N	K	+	3	2	C14orf166	51534969	0.951000	0.32395	0.999000	0.59377	0.993000	0.82548	-0.021000	0.12504	0.081000	0.16988	0.533000	0.62120	AAA	C14orf166	-	pfam_UPF0568	ENSG00000087302		0.303	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166	HGNC	protein_coding	OTTHUMT00000276887.1	-	0	53	0	A	NM_016039		52465219	1	tier1	-	no_errors	ENST00000261700	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.998	T	T	52465219	A	T	52465219	3	4	155	1	0	0	0	0	1	0	0	0	1761	98	4	5	308	5	C14orf166	14	52465219	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09		52465219	54884321	195	39583											
ZBTB25	7597	genome.wustl.edu	37	chr14	64957175	64957175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctccaattgcaactgtgCaatcacacagaaaaccaaat	17	8	4	12	0	2	1	1	0	1	1	3	1	2	1	2	0	4	2	2	0	6	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr14:64957175C>T	ENST00000608382.1	-	2	268	c.77G>A	c.(76-78)tGc>tAc	p.C26Y	ZBTB25_ENST00000555424.1_Missense_Mutation_p.C26Y|ZBTB25_ENST00000394715.1_Missense_Mutation_p.C26Y|ZBTB25_ENST00000555220.1_Missense_Mutation_p.C26Y	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	26	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)		TGCAACTGTGCAATCACACAG	0.413																																																	0													119	117	118					14																	64957175		2203	4300	6503	SO:0001583	missense	0			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.77G>A	14.37:g.64957175C>T	ENSP00000476746:p.Cys26Tyr		B3KUX6|Q8IYH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.C26Y	ENST00000608382.1	37	c.77	CCDS9765.1	14	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682747	0.88542	.	.	ENSG00000089775	ENST00000555220;ENST00000555424;ENST00000261683;ENST00000394715	T;T;T;T	0.71222	-0.55;-0.28;-0.28;-0.28	5.39	5.39	0.77823	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.039844	0.85682	D	0.000000	D	0.86944	0.6055	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.996	D	0.88672	0.3196	10	0.87932	D	0	-12.6558	19.5016	0.95097	0.0:1.0:0.0:0.0	.	26;26	P24278;G3V2K3	ZBT25_HUMAN;.	Y	26	ENSP00000450718:C26Y;ENSP00000451046:C26Y;ENSP00000261683:C26Y;ENSP00000378204:C26Y	ENSP00000261683:C26Y	C	-	2	0	ZBTB25	64026928	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.703000	0.84585	2.693000	0.91896	0.313000	0.20887	TGC	ZBTB25	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000089775		0.413	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB25	HGNC	protein_coding	OTTHUMT00000280649.2		0	61	0	C	NM_006977		64957175	-1			no_errors	ENST00000394715	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	64957175	C	T	64957175	3	4	155	1	0	0	0	0	1	0	0	0	17580	710	25	3	1238	3	ZBTB25	14	64957175	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	12491956	64957175	42392365	196	39584											
C14orf4	64207	genome.wustl.edu	37	chr14	77491802	77491802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaagatagtcgcgatttcGccctgcatgaaggcccaagg	10	8	12	11	3	0	2	0	1	0	1	2	3	0	2	2	2	1	2	2	2	4	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr14:77491802G>A	ENST00000238647.3	-	1	3232	c.2334C>T	c.(2332-2334)ggC>ggT	p.G778G		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	778					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						TCGCGATTTCGCCCTGCATGA	0.572																																																	0													94	91	92					14																	77491802		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2334C>T	14.37:g.77491802G>A			Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.G778	ENST00000238647.3	37	c.2334	CCDS9854.1	14																																																																																			IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000119669		0.572	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1	-	0	70	0	G	NM_024496		77491802	-1	tier1	-	no_errors	ENST00000238647	ensembl	human	known	74_37	silent	27.59	42	16	SNP	1.000	A	A	77491802	G	A	77491802	2	1	155	1	0	0	0	0	0	0	0	1	1778	1074	38	1		1	C14orf4	14	77491802	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	12534627	77491802	29857738	197	39585											
MTA1	9112	genome.wustl.edu	37	chr14	105924626	105924626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgaggaggatggccgagaCcagtccaggttggagaccca	10	4	17	10	2	0	2	0	0	0	2	1	7	1	4	4	6	0	1	4	6	0	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr14:105924626C>G	ENST00000331320.7	+	8	784	c.570C>G	c.(568-570)gaC>gaG	p.D190E	MTA1_ENST00000405646.1_Missense_Mutation_p.D173E|MTA1_ENST00000406191.1_Missense_Mutation_p.D190E	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	190	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				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)		ATGGCCGAGACCAGTCCAGGT	0.682																																																	0													106	73	85					14																	105924626		2201	4299	6500	SO:0001583	missense	0			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.570C>G	14.37:g.105924626C>G	ENSP00000333633:p.Asp190Glu		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.D190E	ENST00000331320.7	37	c.570	CCDS32169.1	14	.	.	.	.	.	.	.	.	.	.	C	2.233	-0.375767	0.05034	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000498644	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.83	2.97	0.34412	ELM2 domain (2);	0.046481	0.85682	D	0.000000	T	0.13628	0.0330	N	0.11560	0.145	0.80722	D	1	B	0.09022	0.002	B	0.17979	0.02	T	0.10086	-1.0645	10	0.10377	T	0.69	-41.875	7.9629	0.30081	0.0:0.7175:0.0:0.2825	.	190	Q13330	MTA1_HUMAN	E	99;190;190;173;104	ENSP00000333633:D190E;ENSP00000385702:D190E;ENSP00000384180:D173E;ENSP00000448146:D104E	ENSP00000333633:D190E	D	+	3	2	MTA1	104995671	1.000000	0.71417	0.987000	0.45799	0.046000	0.14306	0.916000	0.28651	0.445000	0.26639	0.491000	0.48974	GAC	MTA1	-	pfam_ELM2_dom,pfscan_ELM2_dom	ENSG00000182979		0.682	MTA1-001	KNOWN	basic|CCDS	protein_coding	MTA1	HGNC	protein_coding	OTTHUMT00000317849.15	-	0	39	0	C			105924626	1	tier1	-	no_errors	ENST00000331320	ensembl	human	known	74_37	missense	39.13	14	9	SNP	1.000	G	G	105924626	C	G	105924626	3	3	155	1	0	0	0	0	1	0	0	0	9946	506	18	5	600	5	MTA1	14	105924626	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	28432824	105924626	1424914	198	39586											
OCA2	4948	genome.wustl.edu	37	chr15	28200322	28200322	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctttttttggagttcttgGatattggtctcccaattttt	6	21	7	7	0	2	0	0	0	2	0	3	2	2	2	2	3	0	1	2	3	2	9			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr15:28200322G>A	ENST00000354638.3	-	17	1979	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	OCA2_ENST00000382996.2_Silent_p.I608I|OCA2_ENST00000353809.5_Silent_p.I584I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	608					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGTTCTTGGATATTGGTCT	0.458									Oculocutaneous Albinism																																								0													242	232	235					15																	28200322		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1824C>T	15.37:g.28200322G>A			Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.I608	ENST00000354638.3	37	c.1824	CCDS10020.1	15																																																																																			OCA2	-	pfam_Cit_transptr-like_dom,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.458	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	-	0	86	0	G	NM_000275		28200322	-1	tier1	-	no_errors	ENST00000354638	ensembl	human	known	74_37	silent	15.79	48	9	SNP	1.000	A	A	28200322	G	A	28200322	2	1	155	1	0	0	0	0	0	0	0	1	10854	1164	41	3		3	OCA2	15	28200322	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09		28200322	74331070	199	39587											
MAP1A	4130	genome.wustl.edu	37	chr15	43815630	43815630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtaaaggaggatgtgatAgaaaaggctgagttagaaga	18	7	15	1	0	0	5	0	2	0	3	0	8	0	7	0	3	0	3	0	3	8	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr15:43815630A>G	ENST00000300231.5	+	4	2409	c.1959A>G	c.(1957-1959)atA>atG	p.I653M	MAP1A_ENST00000399453.1_Missense_Mutation_p.I653M|MAP1A_ENST00000382031.1_Missense_Mutation_p.I891M			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	653					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)	AGGATGTGATAGAAAAGGCTG	0.473																																																	0													41	42	42					15																	43815630		1938	4129	6067	SO:0001583	missense	0			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.1959A>G	15.37:g.43815630A>G	ENSP00000300231:p.Ile653Met		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.I653M	ENST00000300231.5	37	c.1959	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	A	11.00	1.511651	0.27036	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.52526	0.66;0.66;0.66	5.26	-0.423	0.12325	.	0.000000	0.35407	N	0.003235	T	0.54838	0.1883	M	0.79475	2.455	0.31336	N	0.684236	D	0.64830	0.994	P	0.59643	0.861	T	0.56159	-0.8025	10	0.48119	T	0.1	-12.866	3.0856	0.06277	0.4342:0.3015:0.0672:0.197	.	653	P78559	MAP1A_HUMAN	M	891;653;653	ENSP00000371462:I891M;ENSP00000382380:I653M;ENSP00000300231:I653M	ENSP00000300231:I653M	I	+	3	3	MAP1A	41602922	0.304000	0.24472	0.988000	0.46212	0.985000	0.73830	-0.057000	0.11768	0.070000	0.16634	0.460000	0.39030	ATA	MAP1A	-	NULL	ENSG00000166963		0.473	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	-	0	64	0	A	NM_002373		43815630	1	tier1	-	no_errors	ENST00000399453	ensembl	human	known	74_37	missense	26.00	37	13	SNP	0.802	G	G	43815630	A	G	43815630	3	3	155	1	0	0	0	0	1	0	0	0	9265	410	15	4	1961	4	MAP1A	15	43815630	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	15615308	43815630	58715762	200	39588											
SEMA6D	80031	genome.wustl.edu	37	chr15	48063701	48063701	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctgctatgcctaaaaacTtaaactcaccaaatggtgtt	14	13	5	9	0	2	0	1	0	1	0	2	0	2	0	2	1	4	2	2	1	8	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr15:48063701T>G	ENST00000316364.5	+	19	3380	c.2941T>G	c.(2941-2943)Tta>Gta	p.L981V	SEMA6D_ENST00000536845.2_Missense_Mutation_p.L981V|SEMA6D_ENST00000389433.2_Missense_Mutation_p.L962V|SEMA6D_ENST00000354744.4_Missense_Mutation_p.L925V|SEMA6D_ENST00000389428.3_Missense_Mutation_p.L906V|SEMA6D_ENST00000389432.2_Missense_Mutation_p.L938V|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.L919V|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.L919V|SEMA6D_ENST00000537942.1_Missense_Mutation_p.L919V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	981					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GCCTAAAAACTTAAACTCACC	0.473																																																	0													99	103	101					15																	48063701		2198	4297	6495	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2941T>G	15.37:g.48063701T>G	ENSP00000324857:p.Leu981Val		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.L981V	ENST00000316364.5	37	c.2941	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	T	5.245	0.230637	0.09969	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.16324	2.37;2.36;2.36;2.35;2.37;2.37;2.37;2.37	5.8	3.52	0.40303	.	0.236955	0.36066	N	0.002820	T	0.07324	0.0185	N	0.08118	0	0.80722	D	1	B;B;B;B	0.20780	0.01;0.0;0.0;0.048	B;B;B;B	0.18871	0.007;0.003;0.003;0.023	T	0.21075	-1.0256	10	0.44086	T	0.13	.	3.5285	0.07768	0.1302:0.0714:0.15:0.6484	.	906;925;981;919	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	V	919;981;981;962;938;925;919;906	ENSP00000442040:L919V;ENSP00000446152:L981V;ENSP00000324857:L981V;ENSP00000374084:L962V;ENSP00000374083:L938V;ENSP00000346786:L925V;ENSP00000350770:L919V;ENSP00000374079:L906V	ENSP00000324857:L981V	L	+	1	2	SEMA6D	45850993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.102000	0.31050	1.032000	0.39892	0.460000	0.39030	TTA	SEMA6D	-	NULL	ENSG00000137872		0.473	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	-	0	60	0	T	NM_024966		48063701	1	tier1	-	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	27.08	35	13	SNP	1.000	G	G	48063701	T	G	48063701	3	3	155	1	0	0	0	0	1	0	0	0	14087	1606	56	4	3054	4	SEMA6D	15	48063701	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	4248071	48063701	54467691	201	39589											
BNC1	646	genome.wustl.edu	37	chr15	83933444	83933444	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggattgctcttctttctCttgaattgccatgagttcaa	8	17	8	8	0	4	2	1	2	3	0	5	4	4	3	1	1	2	2	1	1	2	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr15:83933444C>G	ENST00000345382.2	-	4	644	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E180Q	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	187					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TCTTCTTTCTCTTGAATTGCC	0.473																																																	0													213	194	200					15																	83933444		2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.559G>C	15.37:g.83933444C>G	ENSP00000307041:p.Glu187Gln		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E187Q	ENST00000345382.2	37	c.559	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915633	0.52546	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.03951	3.75	5.82	4.91	0.64330	.	0.050568	0.85682	D	0.000000	T	0.17195	0.0413	L	0.57536	1.79	0.51233	D	0.99991	P;D	0.89917	0.897;1.0	P;D	0.66716	0.518;0.946	T	0.00308	-1.1829	10	0.72032	D	0.01	-31.8216	14.9417	0.70997	0.0:0.9313:0.0:0.0687	.	180;187	F5GY04;Q01954	.;BNC1_HUMAN	Q	187;180	ENSP00000307041:E187Q	ENSP00000307041:E187Q	E	-	1	0	BNC1	81724448	1.000000	0.71417	0.950000	0.38849	0.832000	0.47134	7.728000	0.84847	1.473000	0.48159	-0.140000	0.14226	GAG	BNC1	-	NULL	ENSG00000169594		0.473	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	-	0	54	0	C	NM_001717		83933444	-1	tier1	-	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	28.57	35	14	SNP	1.000	G	G	83933444	C	G	83933444	3	3	155	1	0	0	0	0	1	0	0	0	1476	922	32	5	2433	5	BNC1	15	83933444	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	35869743	83933444	18597948	202	39590											
AKAP13	11214	genome.wustl.edu	37	chr15	86077103	86077103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtattggggacagatcagaGtttgcatggtgagaatttat	11	14	13	3	0	1	3	1	1	0	3	1	5	1	4	0	3	1	3	0	3	3	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr15:86077103G>A	ENST00000394518.2	+	4	565	c.470G>A	c.(469-471)aGt>aAt	p.S157N	AKAP13_ENST00000560302.1_Missense_Mutation_p.S157N|AKAP13_ENST00000361243.2_Missense_Mutation_p.S157N	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	157					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						ACAGATCAGAGTTTGCATGGT	0.413																																					Melanoma(94;603 1453 3280 32295 32951)												0													44	44	44					15																	86077103		2202	4297	6499	SO:0001583	missense	0			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.470G>A	15.37:g.86077103G>A	ENSP00000378026:p.Ser157Asn		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.S157N	ENST00000394518.2	37	c.470	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391315	0.42410	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.25749	1.78;1.78	6.07	4.2	0.49525	.	.	.	.	.	T	0.21227	0.0511	L	0.34521	1.04	0.41423	D	0.987817	B;B;P	0.36282	0.309;0.435;0.546	B;B;B	0.39531	0.081;0.167;0.302	T	0.03287	-1.1052	9	0.39692	T	0.17	.	9.6043	0.39624	0.0:0.7769:0.1481:0.075	.	157;157;157	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	N	157;157;156;156	ENSP00000354718:S157N;ENSP00000378026:S157N	ENSP00000354718:S157N	S	+	2	0	AKAP13	83878107	0.022000	0.18835	0.823000	0.32752	0.993000	0.82548	2.454000	0.44979	0.900000	0.36469	-0.165000	0.13383	AGT	AKAP13	-	NULL	ENSG00000170776		0.413	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1		0	33	0	G	NM_007200		86077103	1			no_errors	ENST00000361243	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.520	A	A	86077103	G	A	86077103	3	1	155	1	0	0	0	0	1	0	0	0	449	1029	36	3	480	3	AKAP13	15	86077103	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	2143659	86077103	16454289	203	39591											
TPSAB1	7177	genome.wustl.edu	37	chr16	1291569	1291569	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagatcggagcggacatcgCcctgctggagctggaggagc	8	5	16	12	3	0	1	0	0	0	1	2	6	0	6	2	5	4	2	2	5	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr16:1291569C>G	ENST00000338844.3	+	4	401	c.368C>G	c.(367-369)gCc>gGc	p.A123G	TPSAB1_ENST00000461509.2_Missense_Mutation_p.A130G	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	123	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)				GCGGACATCGCCCTGCTGGAG	0.667																																																	0													17	13	15					16																	1291569		2183	4259	6442	SO:0001583	missense	0			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.368C>G	16.37:g.1291569C>G	ENSP00000343577:p.Ala123Gly		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A123G	ENST00000338844.3	37	c.368	CCDS10431.1	16	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374399	0.42105	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.91740	-2.9;-2.9	3.79	2.81	0.32909	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48286	D	0.000200	D	0.93772	0.8009	M	0.64170	1.965	0.45914	D	0.998755	D;D	0.76494	0.996;0.999	D;D	0.71184	0.925;0.972	D	0.93243	0.6628	10	0.87932	D	0	.	8.6616	0.34097	0.0:0.8814:0.0:0.1186	.	114;123	Q15661-2;Q15661	.;TRYB1_HUMAN	G	123;130	ENSP00000343577:A123G;ENSP00000418247:A130G	ENSP00000343577:A123G	A	+	2	0	TPSAB1	1231570	0.000000	0.05858	0.992000	0.48379	0.488000	0.33401	0.213000	0.17521	1.845000	0.53610	0.479000	0.44913	GCC	TPSAB1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000172236		0.667	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	-	0	66	0	C	NM_003294		1291569	1	tier1	-	no_errors	ENST00000338844	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.964	G	G	1291569	C	G	1291569	3	3	155	1	0	0	0	0	1	0	0	0	16471	739	26	5	378	5	TPSAB1	16	1291569	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09		1291569	89063184	204	39592											
ZNF598	90850	genome.wustl.edu	37	chr16	2051642	2051642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgcgagtgccagcccgggCcactcggccctggcggctgt	3	6	15	17	5	0	0	0	0	0	0	2	1	1	0	5	4	2	1	5	4	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr16:2051642C>T	ENST00000563630.1	-	6	1032	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	ZNF598_ENST00000562103.1_Missense_Mutation_p.A264T|ZNF598_ENST00000431526.1_Missense_Mutation_p.A319T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	319							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						CCAGCCCGGGCCACTCGGCCC	0.687																																																	0													29	37	34					16																	2051642		2073	4187	6260	SO:0001583	missense	0			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		ENST00000563630.1:c.790G>A	16.37:g.2051642C>T	ENSP00000455882:p.Ala264Thr		Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING	p.A319T	ENST00000563630.1	37	c.955		16	.	.	.	.	.	.	.	.	.	.	.	12.51	1.961025	0.34565	.	.	ENSG00000167962	ENST00000431526	T	0.14516	2.5	5.41	0.572	0.17357	.	0.226324	0.45361	D	0.000376	T	0.07773	0.0195	L	0.29908	0.895	0.09310	N	0.999991	B	0.15141	0.012	B	0.13407	0.009	T	0.40365	-0.9567	10	0.13108	T	0.6	-16.7063	7.5462	0.27768	0.1207:0.6528:0.0:0.2265	.	319	Q86UK7	ZN598_HUMAN	T	319	ENSP00000411409:A319T	ENSP00000411409:A319T	A	-	1	0	ZNF598	1991643	0.011000	0.17503	0.234000	0.24042	0.023000	0.10783	0.773000	0.26661	0.249000	0.21456	-0.150000	0.13652	GCC	ZNF598	-	NULL	ENSG00000167962		0.687	ZNF598-001	NOVEL	basic	protein_coding	ZNF598	HGNC	protein_coding	OTTHUMT00000434439.1		0	75	0	C	NM_178167		2051642	-1			no_errors	ENST00000431526	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.260	T	T	2051642	C	T	2051642	3	4	155	1	0	0	0	0	1	0	0	0	18076	739	26	3	1787	3	ZNF598	16	2051642	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	760073	2051642	88303111	205	39593											
SNX29	92017	genome.wustl.edu	37	chr16	12618568	12618568	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttcctcaggatgccaagTttgtggaggaacggagaaag	11	10	14	6	1	1	1	1	0	0	1	2	5	2	4	2	4	2	2	2	4	3	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr16:12618568T>A	ENST00000566228.1	+	20	2257	c.2188T>A	c.(2188-2190)Ttt>Att	p.F730I	SNX29_ENST00000323433.4_Missense_Mutation_p.F345I|SNX29_ENST00000306030.3_Missense_Mutation_p.F345I	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	730	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GGATGCCAAGTTTGTGGAGGA	0.522																																																	0													72	78	76					16																	12618568		2063	4210	6273	SO:0001583	missense	0			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.2188T>A	16.37:g.12618568T>A	ENSP00000456480:p.Phe730Ile		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.F345I	ENST00000566228.1	37	c.1033	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	T	30	5.056271	0.93793	.	.	ENSG00000048471	ENST00000306030;ENST00000323433;ENST00000219090	T;T	0.44083	0.93;0.93	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.80183	2.485	0.36271	D	0.855179	.	.	.	.	.	.	T	0.73582	-0.3937	8	0.72032	D	0.01	-17.5609	14.107	0.65096	0.0:0.0:0.0:1.0	.	.	.	.	I	345;345;25	ENSP00000306940:F345I;ENSP00000322226:F345I	ENSP00000219090:F25I	F	+	1	0	SNX29	12526069	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	6.707000	0.74654	2.209000	0.71365	0.533000	0.62120	TTT	SNX29	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000048471		0.522	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	-	0	76	0	T			12618568	1	tier1	-	no_errors	ENST00000306030	ensembl	human	known	74_37	missense	45.00	22	18	SNP	1.000	A	A	12618568	T	A	12618568	3	1	155	1	0	0	0	0	1	0	0	0	14943	1725	60	5	1079	5	SNX29	16	12618568	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	10566926	12618568	77736185	206	39594											
ACSM2B	348158	genome.wustl.edu	37	chr16	20554273	20554273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgctgatcacagccGtctcaaccacagcagggtgc	8	7	12	14	1	2	1	2	1	1	0	3	1	2	1	2	2	5	3	2	2	1	0	rs370065320	byFrequency	TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr16:20554273G>A	ENST00000329697.6	-	12	1640	c.1472C>T	c.(1471-1473)aCg>aTg	p.T491M	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565322.1_Missense_Mutation_p.T412M|ACSM2B_ENST00000567001.1_Missense_Mutation_p.T491M|ACSM2B_ENST00000565232.1_Missense_Mutation_p.T491M	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	491					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GATCACAGCCGTCTCAACCAC	0.557													g|||	2	0.000399361	8e-04	0	5008	,	,		19943	0.001		0	False		,,,				2504	0																0								G	MET/THR,MET/THR	1,4401	2.1+/-5.4	0,1,2200	102	98	100		1472,1472	2.1	0	16		100	0,8598		0,0,4299	no	missense,missense	ACSM2B	NM_001105069.1,NM_182617.3	81,81	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	491/578,491/578	20554273	1,12999	2201	4299	6500	SO:0001583	missense	0			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1472C>T	16.37:g.20554273G>A	ENSP00000327453:p.Thr491Met		Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.T491M	ENST00000329697.6	37	c.1472	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872350	0.33069	2.27E-4	0.0	ENSG00000066813	ENST00000329697	T	0.58940	0.3	3.1	2.13	0.27403	AMP-dependent synthetase/ligase (1);	0.575751	0.14538	N	0.313470	T	0.67458	0.2895	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.66093	-0.6009	10	0.72032	D	0.01	-0.1611	10.0092	0.41975	0.1048:0.0:0.8951:0.0	.	491;491	A8K051;Q68CK6	.;ACS2B_HUMAN	M	491	ENSP00000327453:T491M	ENSP00000327453:T491M	T	-	2	0	ACSM2B	20461774	0.019000	0.18553	0.006000	0.13384	0.289000	0.27227	1.928000	0.40104	0.644000	0.30656	-0.357000	0.07601	ACG	ACSM2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066813		0.557	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	-	0	118	0	G	NM_182617		20554273	-1	tier1	-	no_errors	ENST00000329697	ensembl	human	known	74_37	missense	48.53	35	33	SNP	0.745	A	A	20554273	G	A	20554273	3	1	155	1	0	0	0	0	1	0	0	0	184	1145	40	1	273	1	ACSM2B	16	20554273	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	7935705	20554273	69800480	207	39595											
ITGAL	3683	genome.wustl.edu	37	chr16	30490755	30490755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcatgaaggatgtgatGaagaaactcagcaacacttc	15	9	9	8	0	2	4	2	3	0	1	3	6	2	5	0	1	3	1	0	1	4	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr16:30490755G>T	ENST00000356798.6	+	6	729	c.549G>T	c.(547-549)atG>atT	p.M183I	ITGAL_ENST00000454514.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	183	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AGGATGTGATGAAGAAACTCA	0.408																																					NSCLC(110;1462 1641 3311 33990 49495)												0													82	74	77					16																	30490755		2197	4300	6497	SO:0001583	missense	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.549G>T	16.37:g.30490755G>T	ENSP00000349252:p.Met183Ile		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.M183I	ENST00000356798.6	37	c.549	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362380	0.82353	.	.	ENSG00000005844	ENST00000356798	T	0.80033	-1.33	5.85	4.9	0.64082	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000003	D	0.82829	0.5122	L	0.39898	1.24	0.80722	D	1	P	0.49090	0.919	P	0.59825	0.864	T	0.82862	-0.0247	10	0.48119	T	0.1	.	12.1823	0.54218	0.08:0.0:0.92:0.0	.	183	P20701	ITAL_HUMAN	I	183	ENSP00000349252:M183I	ENSP00000349252:M183I	M	+	3	0	ITGAL	30398256	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.713000	0.61895	1.489000	0.48450	0.411000	0.27672	ATG	ITGAL	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000005844		0.408	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2		0	74	0	G			30490755	1			no_errors	ENST00000356798	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	30490755	G	T	30490755	3	4	155	1	0	0	0	0	1	0	0	0	7913	1290	45	3	571	3	ITGAL	16	30490755	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	9936482	30490755	59863998	208	39596											
CHRNB1	1140	genome.wustl.edu	37	chr17	7360019	7360019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggacgccacgtaccacttgCcccctccagacccctttcct	6	9	6	20	2	0	1	0	0	0	1	2	2	2	2	8	1	2	1	8	1	1	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:7360019C>A	ENST00000306071.2	+	11	1550	c.1483C>A	c.(1483-1485)Ccc>Acc	p.P495T	CHRNB1_ENST00000575379.1_Missense_Mutation_p.P31T|CHRNB1_ENST00000536404.2_Missense_Mutation_p.P423T|CHRNB1_ENST00000576360.1_Missense_Mutation_p.P374T	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	495					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)	GTACCACTTGCCCCCTCCAGA	0.557																																																	0													121	95	104					17																	7360019		2203	4300	6503	SO:0001583	missense	0			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.1483C>A	17.37:g.7360019C>A	ENSP00000304290:p.Pro495Thr		B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P495T	ENST00000306071.2	37	c.1483	CCDS11106.1	17	.	.	.	.	.	.	.	.	.	.	c	13.82	2.351976	0.41700	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	T;T	0.77877	-1.12;-1.13	5.69	5.69	0.88448	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.113080	0.64402	D	0.000011	T	0.57110	0.2031	N	0.12182	0.205	0.42572	D	0.993181	B	0.30870	0.298	B	0.25884	0.064	T	0.59380	-0.7465	10	0.05721	T	0.95	.	15.3307	0.74208	0.0:1.0:0.0:0.0	.	495	P11230	ACHB_HUMAN	T	495;423	ENSP00000304290:P495T;ENSP00000439209:P423T	ENSP00000304290:P495T	P	+	1	0	CHRNB1	7300743	0.994000	0.37717	1.000000	0.80357	0.966000	0.64601	3.661000	0.54503	2.691000	0.91804	0.550000	0.68814	CCC	CHRNB1	-	superfamily_Neurotrans-gated_channel_TM	ENSG00000170175		0.557	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3	-	0	146	0	C			7360019	1	tier1	-	no_errors	ENST00000306071	ensembl	human	known	74_37	missense	30.48	73	32	SNP	1.000	A	A	7360019	C	A	7360019	3	1	155	1	0	0	0	0	1	0	0	0	3397	739	26	3	1525	3	CHRNB1	17	7360019	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09		7360019	73835191	209	39597											
TP53	7157	genome.wustl.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	0	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	53	0	C	NM_000546		7577538	-1	tier1	rs11540652	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	57.14	18	24	SNP	1.000	T	T	7577538	C	T	7577538	3	4	155	1	0	0	0	0	1	0	0	0	16429	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	217519	7577538	73617672	210	39598											
TBC1D26	353149	genome.wustl.edu	37	chr17	15640806	15640806	+	Missense_Mutation	SNP	A	A	C	1	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	gttgccttacagtgagatggAgctgccccacgtcagtgccc	7	9	12	13	1	1	1	1	1	0	1	1	3	1	2	4	1	5	2	4	1	1	2	rs200208182	byFrequency	TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:15640806A>C	ENST00000437605.2	+	5	417	c.167A>C	c.(166-168)gAg>gCg	p.E56A	ZNF286A_ENST00000593105.1_3'UTR|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.E56A|AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000413242.2_3'UTR	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	56							Rab GTPase activator activity (GO:0005097)	p.E56A(1)		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)		AGTGAGATGGAGCTGCCCCAC	0.647																																																	1	Substitution - Missense(1)	skin(1)											35	39	37					17																	15640806		1942	4099	6041	SO:0001583	missense	0				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.167A>C	17.37:g.15640806A>C	ENSP00000410111:p.Glu56Ala		A8K929|Q4G172	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E56A	ENST00000437605.2	37	c.167	CCDS42265.1	17	.	.	.	.	.	.	.	.	.	.	a	8.747	0.920269	0.17982	.	.	ENSG00000214946	ENST00000437605	T	0.44881	0.91	0.888	-1.78	0.07957	.	0.321547	0.28187	U	0.016280	T	0.40067	0.1102	M	0.81682	2.555	0.09310	N	1	P;P	0.41710	0.76;0.481	B;B	0.44163	0.443;0.347	T	0.39292	-0.9621	10	0.51188	T	0.08	.	1.5879	0.02648	0.3144:0.2682:0.0:0.4174	.	56;56	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	A	56	ENSP00000410111:E56A	ENSP00000410111:E56A	E	+	2	0	TBC1D26	15581531	0.176000	0.23096	0.000000	0.03702	0.001000	0.01503	0.354000	0.20146	-1.189000	0.02702	-0.811000	0.03165	GAG	TBC1D26	-	NULL	ENSG00000214946		0.647	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D26	HGNC	protein_coding		-	0	55	0	A	NM_178571		15640806	1	tier1	rs200208182	no_errors	ENST00000437605	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.285	C	C	15640806	A	C	15640806	3	2	155	1	0	0	0	0	1	0	0	0	15663	304	11	4	177	4	TBC1D26	17	15640806	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	8063268	15640806	65554404	211	39599											
UNC45B	146862	genome.wustl.edu	37	chr17	33504597	33504597	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgaggctctcctaggcctCaccaacctgtctgggcggag	7	9	12	13	1	3	1	1	1	2	0	4	2	3	2	4	4	1	1	4	4	3	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:33504597C>T	ENST00000268876.5	+	17	2326	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L	UNC45B_ENST00000433649.1_Silent_p.L741L|UNC45B_ENST00000378449.1_Silent_p.L662L|UNC45B_ENST00000394570.2_Silent_p.L741L|UNC45B_ENST00000591048.1_Silent_p.L662L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	743					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCCTAGGCCTCACCAACCTGT	0.542																																																	0													41	31	34					17																	33504597		2197	4285	6482	SO:0001819	synonymous_variant	0			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2229C>T	17.37:g.33504597C>T			Q495Q8|Q495Q9	Silent	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L743	ENST00000268876.5	37	c.2229	CCDS11292.1	17																																																																																			UNC45B	-	superfamily_ARM-type_fold	ENSG00000141161		0.542	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2	-	0	65	0	C	NM_173167		33504597	1	tier1	-	no_errors	ENST00000268876	ensembl	human	known	74_37	silent	22.81	44	13	SNP	1.000	T	T	33504597	C	T	33504597	2	4	155	1	0	0	0	0	0	0	0	1	17038	813	29	3		3	UNC45B	17	33504597	Silent	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	17863791	33504597	47690613	212	39600											
SLFN12	55106	genome.wustl.edu	37	chr17	33750022	33750022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaactcggcataattcGtttccaaatcaacactgatg	14	10	6	11	2	1	1	1	1	0	0	4	2	2	1	2	1	3	2	2	1	5	3	rs143225670		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:33750022G>A	ENST00000394562.1	-	4	549	c.26C>T	c.(25-27)aCg>aTg	p.T9M	SLFN12_ENST00000452764.3_Missense_Mutation_p.T9M|SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000304905.5_Missense_Mutation_p.T9M			Q8IYM2	SLN12_HUMAN	schlafen family member 12	9							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCATAATTCGTTTCCAAATC	0.388																																																	0								G	MET/THR	2,4404	2.1+/-5.4	0,2,2201	126	123	124		26	1.7	0	17	dbSNP_134	124	0,8600		0,0,4300	no	missense	SLFN12	NM_018042.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	9/579	33750022	2,13004	2203	4300	6503	SO:0001583	missense	0			AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.26C>T	17.37:g.33750022G>A	ENSP00000378063:p.Thr9Met		A8K711|Q9NP47	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.T9M	ENST00000394562.1	37	c.26	CCDS11295.1	17	.	.	.	.	.	.	.	.	.	.	g	10.33	1.320907	0.23994	4.54E-4	0.0	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764;ENST00000447040;ENST00000445092;ENST00000428476	T;T;T;T;T	0.32988	3.77;3.77;3.77;1.87;1.43	2.81	1.74	0.24563	.	.	.	.	.	T	0.35189	0.0923	L	0.39085	1.19	0.09310	N	1	D	0.76494	0.999	P	0.58928	0.848	T	0.10800	-1.0614	9	0.45353	T	0.12	.	6.5602	0.22481	0.0:0.0:0.7131:0.2869	.	9	Q8IYM2	SLN12_HUMAN	M	9	ENSP00000378063:T9M;ENSP00000302077:T9M;ENSP00000394903:T9M;ENSP00000398315:T9M;ENSP00000404175:T9M	ENSP00000302077:T9M	T	-	2	0	SLFN12	30774135	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.306000	0.19279	0.427000	0.26145	0.436000	0.28706	ACG	SLFN12	-	NULL	ENSG00000172123		0.388	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFN12	HGNC	protein_coding	OTTHUMT00000256491.1	-	0	44	0	G	NM_018042		33750022	-1	tier1	rs143225670	no_errors	ENST00000304905	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.000	A	A	33750022	G	A	33750022	3	1	155	1	0	0	0	0	1	0	0	0	14779	1145	40	1	1722	1	SLFN12	17	33750022	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	245425	33750022	47445188	213	39601											
GGNBP2	79893	genome.wustl.edu	37	chr17	34937781	34937781	+	Missense_Mutation	SNP	T	T	C	0	1	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	atttttataatagatgaccgTggaaaaagtacagggtatta	16	13	9	3	1	0	2	0	1	0	1	0	3	0	3	1	2	1	2	1	2	8	8			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:34937781T>C	ENST00000304718.4	+	9	1344	c.1028T>C	c.(1027-1029)gTg>gCg	p.V343A		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	343					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TAGATGACCGTGGAAAAAGTA	0.383																																																	0													78	81	80					17																	34937781		2203	4300	6503	SO:0001583	missense	0			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.1028T>C	17.37:g.34937781T>C	ENSP00000307617:p.Val343Ala		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.V343A	ENST00000304718.4	37	c.1028	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	T	14.97	2.694828	0.48202	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.48	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	L	0.34521	1.04	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.993	D;D;P	0.66084	0.941;0.941;0.879	T	0.64896	-0.6299	9	0.87932	D	0	-8.547	11.0374	0.47808	0.0:0.0728:0.0:0.9272	.	343;343;343	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	A	343	.	ENSP00000307617:V343A	V	+	2	0	GGNBP2	32011894	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	7.284000	0.78650	0.924000	0.37069	0.402000	0.26972	GTG	GGNBP2	-	NULL	ENSG00000005955		0.383	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	-	0	86	0	T	NM_024835		34937781	1	tier1	-	no_errors	ENST00000304718	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	C	C	34937781	T	C	34937781	3	2	155	1	0	0	0	0	1	0	0	0	6385	1696	59	4	1058	4	GGNBP2	17	34937781	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	1187759	34937781	46257429	214	39602											
KRT24	192666	genome.wustl.edu	37	chr17	38856557	38856557	+	Missense_Mutation	SNP	T	T	C	0	1	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	cctcatgtcattcagtaattTggtcaggtcggtccctggcg	6	13	11	11	2	4	0	4	0	0	0	6	0	5	0	2	4	0	1	2	4	1	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:38856557T>C	ENST00000264651.2	-	4	990	c.934A>G	c.(934-936)Aaa>Gaa	p.K312E		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	312	Linker 12.|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)				TTCAGTAATTTGGTCAGGTCG	0.522																																					GBM(61;380 1051 14702 23642 31441)												0													203	210	207					17																	38856557		2203	4300	6503	SO:0001583	missense	0				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.934A>G	17.37:g.38856557T>C	ENSP00000264651:p.Lys312Glu		Q9NXG7	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.K312E	ENST00000264651.2	37	c.934	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	T	13.57	2.277493	0.40294	.	.	ENSG00000167916	ENST00000264651	T	0.78003	-1.14	5.86	3.66	0.41972	Prefoldin (1);Filament (1);	.	.	.	.	T	0.71492	0.3346	L	0.48935	1.535	0.41578	D	0.988724	P	0.43024	0.798	B	0.42030	0.373	T	0.69087	-0.5238	9	0.52906	T	0.07	.	10.1106	0.42561	0.0:0.135:0.0:0.865	.	312	Q2M2I5	K1C24_HUMAN	E	312	ENSP00000264651:K312E	ENSP00000264651:K312E	K	-	1	0	KRT24	36110083	0.405000	0.25336	0.718000	0.30602	0.711000	0.40976	1.838000	0.39211	0.481000	0.27557	0.460000	0.39030	AAA	KRT24	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	ENSG00000167916		0.522	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	-	0	56	0	T	NM_019016		38856557	-1	tier1	-	no_errors	ENST00000264651	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	C	C	38856557	T	C	38856557	3	2	155	1	0	0	0	0	1	0	0	0	8488	1821	63	4	663	4	KRT24	17	38856557	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	3918776	38856557	42338653	215	39603											
KRT15	3866	genome.wustl.edu	37	chr17	39673193	39673193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tgtcagcctcaacgccctggCgcagggccagctcattctca	7	8	10	16	2	4	0	4	0	1	0	5	0	4	0	3	2	3	2	3	2	1	1	rs200854917		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:39673193C>T	ENST00000254043.3	-	3	4190	c.605G>A	c.(604-606)cGc>cAc	p.R202H	KRT15_ENST00000393981.3_Missense_Mutation_p.R37H|KRT15_ENST00000393974.3_Missense_Mutation_p.R37H|KRT15_ENST00000393976.2_Missense_Mutation_p.R202H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	202	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AACGCCCTGGCGCAGGGCCAG	0.602																																																	0													72	74	73					17																	39673193		2203	4300	6503	SO:0001583	missense	0				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.605G>A	17.37:g.39673193C>T	ENSP00000254043:p.Arg202His		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R202H	ENST00000254043.3	37	c.605	CCDS11398.1	17	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015646	0.75161	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94	4.86	3.86	0.44501	Filament (1);	0.000000	0.50627	D	0.000119	D	0.95014	0.8386	M	0.84683	2.71	0.52501	D	0.999952	D;D;D	0.69078	0.973;0.982;0.997	P;P;P	0.57846	0.828;0.749;0.828	D	0.94978	0.8123	10	0.54805	T	0.06	.	13.6849	0.62511	0.0:0.9237:0.0:0.0763	.	37;202;202	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	H	202;37;202;37;37	ENSP00000254043:R202H;ENSP00000377544:R37H;ENSP00000377546:R202H;ENSP00000377550:R37H;ENSP00000409282:R37H	ENSP00000254043:R202H	R	-	2	0	KRT15	36926719	0.964000	0.33143	1.000000	0.80357	0.353000	0.29299	2.076000	0.41548	2.514000	0.84764	0.650000	0.86243	CGC	KRT15	-	pfam_IF	ENSG00000171346		0.602	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT15	HGNC	protein_coding	OTTHUMT00000257301.1	-	0	77	0	C	NM_002275		39673193	-1	tier1	rs200854917	no_errors	ENST00000254043	ensembl	human	known	74_37	missense	25.00	30	10	SNP	1.000	T	T	39673193	C	T	39673193	3	4	155	1	0	0	0	0	1	0	0	0	8479	768	27	1	789	1	KRT15	17	39673193	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	816636	39673193	41522017	216	39604											
STAT5B	6777	genome.wustl.edu	37	chr17	40370850	40370850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggtgctcagccctgcGgatctgctgccggttctgcc	4	9	14	14	2	3	1	1	0	2	1	3	2	3	2	3	3	6	4	3	3	0	1	rs199982340		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:40370850G>A	ENST00000293328.3	-	8	1048	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	294	Required for interaction with NMI.				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)	TCAGCCCTGCGGATCTGCTGC	0.632																																																	0													33	28	30					17																	40370850		2202	4276	6478	SO:0001583	missense	0			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.880C>T	17.37:g.40370850G>A	ENSP00000293328:p.Arg294Cys		Q8WWS8	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.R294C	ENST00000293328.3	37	c.880	CCDS11423.1	17	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006223	0.74932	.	.	ENSG00000173757	ENST00000293328	T	0.60548	0.18	4.52	3.48	0.39840	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.055373	0.64402	D	0.000001	T	0.70988	0.3287	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.94;0.98	T	0.75473	-0.3305	10	0.87932	D	0	-5.2234	15.0749	0.72069	0.0:0.0:0.8487:0.1513	.	294;294	Q8WW55;P51692	.;STA5B_HUMAN	C	294	ENSP00000293328:R294C	ENSP00000293328:R294C	R	-	1	0	STAT5B	37624376	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.964000	0.56780	2.341000	0.79615	0.555000	0.69702	CGC	STAT5B	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil	ENSG00000173757		0.632	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	-	0	35	0	G	NM_012448		40370850	-1	tier1	rs199982340	no_errors	ENST00000293328	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	A	A	40370850	G	A	40370850	3	1	155	1	0	0	0	0	1	0	0	0	15316	1116	39	1	1531	1	STAT5B	17	40370850	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	697657	40370850	40824360	217	39605											
PLEKHH3	79990	genome.wustl.edu	37	chr17	40823101	40823101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgtacagcgcgaatgcGttgcggctccgggccaagcc	6	7	14	14	6	0	0	0	0	0	0	2	1	1	0	3	2	6	4	3	2	3	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:40823101G>A	ENST00000591022.1	-	9	1719	c.1332C>T	c.(1330-1332)aaC>aaT	p.N444N	PLEKHH3_ENST00000293349.6_Silent_p.N444N|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Silent_p.N444N	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	444	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCGCGAATGCGTTGCGGCTCC	0.657																																																	0													22	28	26					17																	40823101		2171	4256	6427	SO:0001819	synonymous_variant	0			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.1332C>T	17.37:g.40823101G>A			C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.N444	ENST00000591022.1	37	c.1332	CCDS11434.1	17																																																																																			PLEKHH3	-	pfam_Ras-assoc,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000068137		0.657	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	-	0	61	0	G	NM_024927		40823101	-1	tier1	-	no_errors	ENST00000591022	ensembl	human	known	74_37	silent	36.11	23	13	SNP	0.158	A	A	40823101	G	A	40823101	2	1	155	1	0	0	0	0	0	0	0	1	12117	1136	40	1		1	PLEKHH3	17	40823101	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	452251	40823101	40372109	218	39606											
HDAC5	10014	genome.wustl.edu	37	chr17	42170115	42170115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttgtaggagggaggcGtcccaggggggccgctctgg	5	7	20	9	2	1	0	0	0	1	0	2	2	2	2	2	7	0	4	2	7	1	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:42170115G>A	ENST00000393622.2	-	7	1032	c.701C>T	c.(700-702)aCg>aTg	p.T234M	HDAC5_ENST00000225983.6_Missense_Mutation_p.T235M|HDAC5_ENST00000586802.1_Missense_Mutation_p.T234M|HDAC5_ENST00000336057.5_Missense_Mutation_p.T234M	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	234					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)		GGAGGGAGGCGTCCCAGGGGG	0.652																																																	0													23	29	27					17																	42170115		2177	4261	6438	SO:0001583	missense	0			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.701C>T	17.37:g.42170115G>A	ENSP00000377244:p.Thr234Met		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.T235M	ENST00000393622.2	37	c.704	CCDS45696.1	17	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412901	0.83340	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.49720	0.81;0.81;0.77	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	T	0.64616	0.2614	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71414	0.973;0.94;0.973;0.94	T	0.61691	-0.7011	10	0.41790	T	0.15	-9.7899	18.2096	0.89866	0.0:0.0:1.0:0.0	.	234;234;235;234	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	M	235;234;234	ENSP00000225983:T235M;ENSP00000377244:T234M;ENSP00000337290:T234M	ENSP00000225983:T235M	T	-	2	0	HDAC5	39525641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.491000	0.60326	2.606000	0.88127	0.561000	0.74099	ACG	HDAC5	-	pirsf_Histone_deAcase_II_euk	ENSG00000108840		0.652	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1		0	24	0	G	NM_001015053		42170115	-1			no_errors	ENST00000225983	ensembl	human	known	74_37	missense	22.22	7	2	SNP	1.000	A	A	42170115	G	A	42170115	3	1	155	1	0	0	0	0	1	0	0	0	7037	1145	40	1	2751	1	HDAC5	17	42170115	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1347014	42170115	39025095	219	39607											
GPATCH8	23131	genome.wustl.edu	37	chr17	42475361	42475361	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaggctgtagctggctgctGaatgtggatgggttgcaggg	7	10	19	5	0	0	2	0	1	0	1	0	3	0	3	0	5	3	7	0	5	2	2	rs370643934		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:42475361G>A	ENST00000591680.1	-	8	4114	c.4084C>T	c.(4084-4086)Cag>Tag	p.Q1362*	GPATCH8_ENST00000434000.1_Nonsense_Mutation_p.Q1284*	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1362							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)		GCTGGCTGCTGAATGTGGATG	0.597																																																	0													77	56	63					17																	42475361		2203	4300	6503	SO:0001587	stop_gained	0			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.4084C>T	17.37:g.42475361G>A	ENSP00000467556:p.Gln1362*		B9EGP9|O60300|Q8TB99	Nonsense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.Q1362*	ENST00000591680.1	37	c.4084	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.306336	0.98200	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	5.24	4.27	0.50696	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-15.5519	13.4654	0.61251	0.077:0.0:0.923:0.0	.	.	.	.	X	1362;1284	.	ENSP00000335486:Q1362X	Q	-	1	0	GPATCH8	39830887	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.382000	0.97209	1.215000	0.43411	0.305000	0.20034	CAG	GPATCH8	-	NULL	ENSG00000186566		0.597	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	-	0	49	0	G	NM_001002909		42475361	-1	tier1	-	no_errors	ENST00000591680	ensembl	human	known	74_37	nonsense	10.26	35	4	SNP	1.000	A	A	42475361	G	A	42475361	4	1	155	1	0	0	0	0	0	1	0	0	6620	1299	45	3	428	3	GPATCH8	17	42475361	Nonsense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	305246	42475361	38719849	220	39608											
PLCD3	113026	genome.wustl.edu	37	chr17	43190893	43190893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	caggcaggcaggttttaggaCgtagccacactgcccattga	10	8	12	11	1	0	1	0	1	0	0	0	2	0	2	2	4	2	4	2	4	2	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:43190893C>T	ENST00000322765.5	-	13	2019	c.1906G>A	c.(1906-1908)Gtc>Atc	p.V636I	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	637	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GGTTTTAGGACGTAGCCACAC	0.597																																																	0													51	56	54					17																	43190893		2065	4191	6256	SO:0001583	missense	0			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1906G>A	17.37:g.43190893C>T	ENSP00000313731:p.Val636Ile		Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.V636I	ENST00000322765.5	37	c.1906		17	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370122	0.42003	.	.	ENSG00000161714	ENST00000322765	T	0.70869	-0.52	4.84	0.535	0.17133	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.195709	0.43110	N	0.000601	T	0.53626	0.1808	.	.	.	0.31213	N	0.698447	B	0.22800	0.075	B	0.17433	0.018	T	0.48980	-0.8986	9	0.33940	T	0.23	.	8.5424	0.33402	0.0:0.659:0.0:0.341	.	637	Q8N3E9	PLCD3_HUMAN	I	636	ENSP00000313731:V636I	ENSP00000313731:V636I	V	-	1	0	PLCD3	40546419	0.000000	0.05858	0.242000	0.24170	0.665000	0.39181	-0.421000	0.07053	0.053000	0.16036	0.555000	0.69702	GTC	PLCD3	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000161714		0.597	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		-	0	51	0	C	NM_133373		43190893	-1	tier1	-	no_errors	ENST00000322765	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.883	T	T	43190893	C	T	43190893	3	4	155	1	0	0	0	0	1	0	0	0	12071	536	19	1	476	1	PLCD3	17	43190893	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	715532	43190893	38004317	221	39609											
NGFR	4804	genome.wustl.edu	37	chr17	47590297	47590297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggacgccctcctggccGccctgcgccgcatccagcga	5	5	11	20	5	0	0	0	0	0	0	2	2	2	1	6	2	2	1	6	2	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:47590297G>T	ENST00000172229.3	+	6	1335	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S	NGFR_ENST00000504201.1_Missense_Mutation_p.A310S|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	404	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCTCCTGGCCGCCCTGCGCCG	0.697																																																	0													16	17	17					17																	47590297		2200	4294	6494	SO:0001583	missense	0			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1210G>T	17.37:g.47590297G>T	ENSP00000172229:p.Ala404Ser		B2R961|B4E096	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16	p.A404S	ENST00000172229.3	37	c.1210	CCDS11549.1	17	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940091	0.92526	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.89681	-2.55;-2.55	4.55	3.49	0.39957	Death (3);DEATH-like (2);	0.272209	0.34314	N	0.004069	D	0.91875	0.7428	L	0.49778	1.585	0.50467	D	0.999879	D	0.89917	1.0	D	0.91635	0.999	D	0.92350	0.5889	10	0.72032	D	0.01	-22.2625	13.2254	0.59912	0.0:0.1611:0.8389:0.0	.	404	P08138	TNR16_HUMAN	S	404;310	ENSP00000172229:A404S;ENSP00000421731:A310S	ENSP00000172229:A404S	A	+	1	0	NGFR	44945296	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.269000	0.95684	2.233000	0.73108	0.561000	0.74099	GCC	NGFR	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000064300		0.697	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGFR	HGNC	protein_coding	OTTHUMT00000365150.1		0	77	0	G			47590297	1			no_errors	ENST00000172229	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	47590297	G	T	47590297	3	4	155	1	0	0	0	0	1	0	0	0	10435	1087	38	2	1232	2	NGFR	17	47590297	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	4399404	47590297	33604913	222	39610											
DLX4	1748	genome.wustl.edu	37	chr17	48050479	48050479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaaccctccgagcggcGccctcaggcccccgccaaaa	8	2	10	21	5	1	0	1	0	0	0	2	2	2	1	7	3	2	0	7	3	3	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:48050479G>T	ENST00000240306.3	+	2	621	c.326G>T	c.(325-327)cGc>cTc	p.R109L	DLX4_ENST00000411890.2_Missense_Mutation_p.R37L|DLX4_ENST00000503410.1_3'UTR	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	109					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						TCCGAGCGGCGCCCTCAGGCC	0.667																																																	0													27	34	31					17																	48050479		2203	4299	6502	SO:0001583	missense	0				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.326G>T	17.37:g.48050479G>T	ENSP00000240306:p.Arg109Leu		D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.R109L	ENST00000240306.3	37	c.326	CCDS11555.1	17	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572579	0.45798	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	D;D	0.95342	-2.9;-3.68	4.65	-2.96	0.05547	Homeodomain-related (1);Homeodomain-like (1);	.	.	.	.	D	0.88123	0.6352	L	0.45581	1.43	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.73839	-0.3856	9	0.25751	T	0.34	-1.378	2.1351	0.03760	0.1202:0.1376:0.3228:0.4194	.	37;109	Q92988-2;Q92988	.;DLX4_HUMAN	L	109;37	ENSP00000240306:R109L;ENSP00000410622:R37L	ENSP00000240306:R109L	R	+	2	0	DLX4	45405478	0.171000	0.23029	0.000000	0.03702	0.013000	0.08279	1.211000	0.32382	-0.304000	0.08843	0.655000	0.94253	CGC	DLX4	-	superfamily_Homeodomain-like	ENSG00000108813		0.667	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1		0	90	0	G			48050479	1			no_errors	ENST00000240306	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.000	T	T	48050479	G	T	48050479	3	4	155	1	0	0	0	0	1	0	0	0	4587	1087	38	2	399	2	DLX4	17	48050479	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	460182	48050479	33144731	223	39611											
TEX14	56155	genome.wustl.edu	37	chr17	56693620	56693620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccttttctccaatgaccGgaagagatcctagataggcc	10	11	8	12	1	1	3	0	1	1	2	4	5	3	4	5	2	0	0	5	2	4	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:56693620G>A	ENST00000240361.8	-	7	786	c.701C>T	c.(700-702)cCg>cTg	p.P234L	TEX14_ENST00000389934.3_Missense_Mutation_p.P228L|TEX14_ENST00000349033.5_Missense_Mutation_p.P228L			Q8IWB6	TEX14_HUMAN	testis expressed 14	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.P228L(1)		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)					TCCAATGACCGGAAGAGATCC	0.493																																																	1	Substitution - Missense(1)	stomach(1)											97	87	90					17																	56693620		2203	4300	6503	SO:0001583	missense	0			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.701C>T	17.37:g.56693620G>A	ENSP00000240361:p.Pro234Leu		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.P234L	ENST00000240361.8	37	c.701	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930620	0.34096	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;D	0.83914	-1.78;-1.63;-1.53	5.65	4.67	0.58626	Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.82976	0.5154	M	0.65975	2.015	0.58432	D	0.999993	P;P;P	0.46621	0.464;0.599;0.881	B;B;B	0.41946	0.13;0.201;0.371	T	0.83344	-0.0006	10	0.66056	D	0.02	-20.068	16.4431	0.83908	0.0708:0.0:0.9292:0.0	.	234;228;228	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	L	234;228;228	ENSP00000240361:P234L;ENSP00000374584:P228L;ENSP00000268910:P228L	ENSP00000240361:P234L	P	-	2	0	TEX14	54048619	1.000000	0.71417	0.506000	0.27664	0.374000	0.29953	4.072000	0.57563	0.760000	0.33108	-0.797000	0.03246	CCG	TEX14	-	pfscan_Prot_kinase_dom	ENSG00000121101		0.493	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	-	0	44	0	G			56693620	-1	tier1	-	no_errors	ENST00000240361	ensembl	human	known	74_37	missense	37.78	28	17	SNP	0.929	A	A	56693620	G	A	56693620	3	1	155	1	0	0	0	0	1	0	0	0	15825	1116	39	1	3900	1	TEX14	17	56693620	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	8643141	56693620	24501590	224	39612											
INTS2	57508	genome.wustl.edu	37	chr17	59955255	59955255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acactgaatttaccttctagGcatcacagtattaagaacca	15	11	5	10	0	2	2	1	1	1	1	2	2	2	2	2	1	2	2	2	1	6	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:59955255G>A	ENST00000444766.3	-	18	2548	c.2473C>T	c.(2473-2475)Cct>Tct	p.P825S	INTS2_ENST00000251334.6_Missense_Mutation_p.P817S	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	825					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						TACCTTCTAGGCATCACAGTA	0.313																																																	0													85	79	81					17																	59955255		1829	4066	5895	SO:0001583	missense	0			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.2473C>T	17.37:g.59955255G>A	ENSP00000414237:p.Pro825Ser		Q9ULD3	Missense_Mutation	SNP	NULL	p.P825S	ENST00000444766.3	37	c.2473	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613484	0.87359	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.52295	0.67	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	T	0.65038	-0.6265	9	.	.	.	-15.8074	18.365	0.90388	0.0:0.0:1.0:0.0	.	825	Q9H0H0	INT2_HUMAN	S	825;824	ENSP00000414237:P825S	.	P	-	1	0	INTS2	57310037	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.987000	0.93497	2.577000	0.86979	0.650000	0.86243	CCT	INTS2	-	NULL	ENSG00000108506		0.313	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	-	0	117	0	G	NM_020748		59955255	-1	tier1	-	no_errors	ENST00000444766	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	A	A	59955255	G	A	59955255	3	1	155	1	0	0	0	0	1	0	0	0	7805	1203	42	3	1173	3	INTS2	17	59955255	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	3261635	59955255	21239955	225	39613											
OTOP3	347741	genome.wustl.edu	37	chr17	72943297	72943297	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgagctgctcaaccgcctCatcctggcctactcgctgct	6	10	8	17	2	2	1	2	1	0	0	4	1	3	1	4	1	5	4	4	1	2	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:72943297C>T	ENST00000328801.4	+	6	1347	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	449						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)					TCAACCGCCTCATCCTGGCCT	0.617																																																	0													53	53	53					17																	72943297		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1347C>T	17.37:g.72943297C>T				Silent	SNP	pfam_Otopetrin	p.L449	ENST00000328801.4	37	c.1347	CCDS11709.1	17																																																																																			OTOP3	-	pfam_Otopetrin	ENSG00000182938		0.617	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	HGNC	protein_coding	OTTHUMT00000445308.1	-	0	48	0	C	NM_178233		72943297	1	tier1	-	no_errors	ENST00000328801	ensembl	human	known	74_37	silent	26.67	22	8	SNP	0.992	T	T	72943297	C	T	72943297	2	4	155	1	0	0	0	0	0	0	0	1	11346	813	29	3		3	OTOP3	17	72943297	Silent	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	12988042	72943297	8251913	226	39614											
MGAT5B	146664	genome.wustl.edu	37	chr17	74921094	74921094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagctgcccgctcaccatgCccctgcccttcgacctcatc	6	8	7	20	2	2	0	2	0	0	0	4	2	2	0	6	0	4	2	6	0	1	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr17:74921094C>A	ENST00000569840.2	+	9	1646	c.1072C>A	c.(1072-1074)Ccc>Acc	p.P358T	MGAT5B_ENST00000428789.2_Missense_Mutation_p.P369T|MGAT5B_ENST00000301618.4_Missense_Mutation_p.P358T	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	358					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						GCTCACCATGCCCCTGCCCTT	0.617																																																	0													92	90	91					17																	74921094		2203	4300	6503	SO:0001583	missense	0			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.1072C>A	17.37:g.74921094C>A	ENSP00000456037:p.Pro358Thr		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.P369T	ENST00000569840.2	37	c.1105	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861505	0.71949	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.42900	0.96;0.96	5.25	5.25	0.73442	.	0.224365	0.39985	N	0.001214	T	0.56587	0.1995	L	0.59436	1.845	0.46336	D	0.998991	D;D	0.63046	0.992;0.992	P;P	0.59948	0.866;0.866	T	0.49331	-0.8951	10	0.21540	T	0.41	-25.0014	17.8384	0.88707	0.0:1.0:0.0:0.0	.	369;358	Q3V5L5-2;Q3V5L5-5	.;.	T	358;369	ENSP00000301618:P358T;ENSP00000391227:P369T	ENSP00000301618:P358T	P	+	1	0	MGAT5B	72432689	0.998000	0.40836	0.959000	0.39883	0.974000	0.67602	3.799000	0.55529	2.453000	0.82957	0.561000	0.74099	CCC	MGAT5B	-	NULL	ENSG00000167889		0.617	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	-	0	56	0	C	NM_144677		74921094	1	tier1	-	no_errors	ENST00000428789	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.992	A	A	74921094	C	A	74921094	3	1	155	1	0	0	0	0	1	0	0	0	9587	739	26	3	1207	3	MGAT5B	17	74921094	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	1977797	74921094	6274116	227	39615											
EPB41L3	23136	genome.wustl.edu	37	chr18	5489096	5489096	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccggcacgggcgccccCgcgcgcccctgcgcccccgc	1	2	14	24	8	0	0	0	0	0	0	1	0	1	0	7	3	1	2	7	3	0	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr18:5489096C>T	ENST00000341928.2	-	2	427	c.87G>A	c.(85-87)gcG>gcA	p.A29A	EPB41L3_ENST00000342933.3_Silent_p.A29A|EPB41L3_ENST00000400111.3_Silent_p.A29A|EPB41L3_ENST00000540638.2_Silent_p.A29A|EPB41L3_ENST00000544123.1_Silent_p.A29A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	29					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						cgggcgcccccgcgcgcccct	0.716																																																	0													13	16	15					18																	5489096		2118	4126	6244	SO:0001819	synonymous_variant	0			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.87G>A	18.37:g.5489096C>T			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.A29	ENST00000341928.2	37	c.87	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.716	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0	20	0	C	NM_012307		5489096	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	silent	33.33	8	4	SNP	0.010	T	T	5489096	C	T	5489096	2	4	155	1	0	0	0	0	0	0	0	1	5170	639	23	1		1	EPB41L3	18	5489096	Silent	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09		5489096	72588152	228	39616											
DSEL	92126	genome.wustl.edu	37	chr18	65179113	65179113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaacgaaaatgcccactgcgGatatctgacaccttccattc	13	9	6	13	2	1	1	0	1	1	0	3	3	2	2	3	1	3	0	3	1	4	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr18:65179113G>C	ENST00000310045.7	-	2	4236	c.2763C>G	c.(2761-2763)atC>atG	p.I921M	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	911					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)				GCCCACTGCGGATATCTGACA	0.433																																																	0													77	78	77					18																	65179113		2203	4300	6503	SO:0001583	missense	0			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.2763C>G	18.37:g.65179113G>C	ENSP00000310565:p.Ile921Met		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.I921M	ENST00000310045.7	37	c.2763	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963301	0.34659	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18502	2.21	5.13	1.03	0.20045	Sulfotransferase domain (1);	0.669254	0.14811	N	0.297073	T	0.14399	0.0348	L	0.36672	1.1	0.24364	N	0.994862	B	0.27192	0.171	B	0.35655	0.207	T	0.27297	-1.0078	10	0.51188	T	0.08	-6.3724	5.8573	0.18727	0.4154:0.1333:0.4513:0.0	.	911	Q8IZU8	DSEL_HUMAN	M	921;911	ENSP00000310565:I921M	ENSP00000310565:I921M	I	-	3	3	DSEL	63330093	0.996000	0.38824	0.235000	0.24058	0.950000	0.60333	0.434000	0.21494	0.571000	0.29365	-0.253000	0.11424	ATC	DSEL	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000171451		0.433	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	-	0	68	0	G	NM_032160		65179113	-1	tier1	-	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	53.19	22	25	SNP	0.719	C	C	65179113	G	C	65179113	3	2	155	1	0	0	0	0	1	0	0	0	4789	1164	41	5	909	5	DSEL	18	65179113	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	59690017	65179113	12898135	229	39617											
ZNF407	55628	genome.wustl.edu	37	chr18	72775130	72775130	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgtttccaagtcgtacgagtGccgtctaaagggacaaggag	11	9	13	8	3	1	0	0	0	1	0	3	3	2	2	2	2	2	2	2	2	5	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr18:72775130G>T	ENST00000299687.5	+	8	5453	c.5453G>T	c.(5452-5454)tGc>tTc	p.C1818F		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1818					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)		TCGTACGAGTGCCGTCTAAAG	0.547																																																	0													87	98	94					18																	72775130		2089	4201	6290	SO:0001583	missense	0			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.5453G>T	18.37:g.72775130G>T	ENSP00000299687:p.Cys1818Phe		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.C1818F	ENST00000299687.5	37	c.5453	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216078	0.79352	.	.	ENSG00000215421	ENST00000299687	T	0.11385	2.78	4.97	4.97	0.65823	.	.	.	.	.	T	0.24470	0.0593	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01312	-1.1388	9	0.72032	D	0.01	.	16.4342	0.83869	0.0:0.0:1.0:0.0	.	1818	Q9C0G0	ZN407_HUMAN	F	1818	ENSP00000299687:C1818F	ENSP00000299687:C1818F	C	+	2	0	ZNF407	70904118	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.147000	0.94646	1.094000	0.41399	-0.136000	0.14681	TGC	ZNF407	-	NULL	ENSG00000215421		0.547	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	-	0	110	0	G	NM_017757		72775130	1	tier1	-	no_errors	ENST00000299687	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	72775130	G	T	72775130	3	4	155	1	0	0	0	0	1	0	0	0	17935	1319	46	3	5613	3	ZNF407	18	72775130	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	7596017	72775130	5302118	230	39618											
GRIN3B	116444	genome.wustl.edu	37	chr19	1004753	1004753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtctggcccaagctgcGtgtggtaacgctgttggaac	7	9	14	11	2	1	0	0	0	1	0	1	1	1	1	2	4	4	4	2	4	3	2	rs201293199		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:1004753G>A	ENST00000234389.3	+	3	1272	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_Intron	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	418					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)	CCCAAGCTGCGTGTGGTAACG	0.677																																																	0								G	HIS/ARG	0,4394		0,0,2197	41	40	40		1253	4.6	0.6	19		40	1,8585	1.2+/-3.3	0,1,4292	no	missense	GRIN3B	NM_138690.1	29	0,1,6489	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	418/1044	1004753	1,12979	2197	4293	6490	SO:0001583	missense	0				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.1253G>A	19.37:g.1004753G>A	ENSP00000234389:p.Arg418His		Q5EAK7|Q7RTW9	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R418H	ENST00000234389.3	37	c.1253	CCDS32861.1	19	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565744	0.65651	0.0	1.16E-4	ENSG00000116032	ENST00000234389	T	0.56941	0.43	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.72606	0.3481	M	0.79258	2.445	0.46149	D	0.998891	D	0.89917	1.0	D	0.81914	0.995	T	0.76498	-0.2937	10	0.56958	D	0.05	.	16.0132	0.80417	0.0:0.0:1.0:0.0	.	418	O60391	NMD3B_HUMAN	H	418	ENSP00000234389:R418H	ENSP00000234389:R418H	R	+	2	0	GRIN3B	955753	1.000000	0.71417	0.618000	0.29105	0.364000	0.29643	9.390000	0.97246	2.137000	0.66172	0.472000	0.43445	CGT	GRIN3B	-	NULL	ENSG00000116032		0.677	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2	-	0	26	0	G			1004753	1	tier1	rs201293199	no_errors	ENST00000234389	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.994	A	A	1004753	G	A	1004753	3	1	155	1	0	0	0	0	1	0	0	0	6811	1145	40	1	1263	1	GRIN3B	19	1004753	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09		1004753	58124230	231	39619											
LMNB2	84823	genome.wustl.edu	37	chr19	2434893	2434893	+	Missense_Mutation	SNP	T	T	G	0	1	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	cttgtcgttctggtcagagcTcagcttggcgctgtccagct	4	13	12	12	2	3	1	2	0	1	1	5	1	4	1	1	2	3	5	1	2	0	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:2434893T>G	ENST00000582871.1	-	6	900	c.814A>C	c.(814-816)Agc>Cgc	p.S272R	LMNB2_ENST00000325327.3_Missense_Mutation_p.S292R	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	272	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)		TGGTCAGAGCTCAGCTTGGCG	0.746																																																	0													17	15	16					19																	2434893		2186	4281	6467	SO:0001583	missense	0			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.814A>C	19.37:g.2434893T>G	ENSP00000462730:p.Ser272Arg		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.S292R	ENST00000582871.1	37	c.874		19	.	.	.	.	.	.	.	.	.	.	T	22.9	4.346240	0.82022	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.43	-3.09	0.05331	Filament (1);	0.664940	0.15024	N	0.284859	T	0.58680	0.2139	M	0.85197	2.74	0.34388	D	0.693834	B	0.31548	0.328	B	0.42112	0.376	T	0.62506	-0.6840	9	0.62326	D	0.03	.	1.8304	0.03129	0.5463:0.136:0.1281:0.1896	.	272	Q03252	LMNB2_HUMAN	R	272	.	ENSP00000327054:S272R	S	-	1	0	LMNB2	2385893	1.000000	0.71417	0.663000	0.29738	0.963000	0.63663	1.493000	0.35605	-0.249000	0.09569	0.459000	0.35465	AGC	LMNB2	-	pfam_IF	ENSG00000176619		0.746	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding			0	13	0	T	NM_032737		2434893	-1			no_errors	ENST00000325327	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.972	G	G	2434893	T	G	2434893	3	3	155	1	0	0	0	0	1	0	0	0	8880	1551	54	4	1016	4	LMNB2	19	2434893	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	1430140	2434893	56694090	232	39620											
SH2D3A	10045	genome.wustl.edu	37	chr19	6760892	6760892	+	Missense_Mutation	SNP	T	T	C	0	1	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	ccacacggaacacctcaaaaTggagggctgagccccgccag	12	3	11	15	2	1	1	1	1	0	0	1	3	1	3	5	3	2	1	5	3	3	0	rs371836476		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:6760892T>C	ENST00000245908.6	-	3	445	c.176A>G	c.(175-177)cAt>cGt	p.H59R	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	59	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						CACCTCAAAATGGAGGGCTGA	0.632																																																	0								T	ARG/HIS	1,4405	2.1+/-5.4	0,1,2202	40	40	40		176	5	1	19		40	0,8598		0,0,4299	no	missense	SH2D3A	NM_005490.2	29	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	59/577	6760892	1,13003	2203	4299	6502	SO:0001583	missense	0			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.176A>G	19.37:g.6760892T>C	ENSP00000245908:p.His59Arg		A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2	p.H59R	ENST00000245908.6	37	c.176	CCDS12173.1	19	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412495	0.62511	2.27E-4	0.0	ENSG00000125731	ENST00000245908	T	0.73681	-0.77	4.97	4.97	0.65823	SH2 motif (4);	0.000000	0.44902	D	0.000410	D	0.90480	0.7018	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93194	0.6586	10	0.87932	D	0	-25.7713	12.7066	0.57063	0.0:0.0:0.0:1.0	.	59	Q9BRG2	SH23A_HUMAN	R	59	ENSP00000245908:H59R	ENSP00000245908:H59R	H	-	2	0	SH2D3A	6711892	1.000000	0.71417	0.989000	0.46669	0.140000	0.21249	6.116000	0.71571	2.103000	0.63969	0.454000	0.30748	CAT	SH2D3A	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000125731		0.632	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	HGNC	protein_coding	OTTHUMT00000458016.1	-	0	63	0	T	NM_005490		6760892	-1	tier1	-	no_errors	ENST00000245908	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	C	C	6760892	T	C	6760892	3	2	155	1	0	0	0	0	1	0	0	0	14278	1464	51	4	1586	4	SH2D3A	19	6760892	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	4325999	6760892	52368091	233	39621											
MYO1F	4542	genome.wustl.edu	37	chr19	8595219	8595219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgatgctgttgcgcctcCgctccttcttgttcagcagg	4	14	11	12	2	2	1	1	1	1	0	4	2	4	1	3	1	3	5	3	1	0	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:8595219C>T	ENST00000338257.8	-	21	2456	c.2189G>A	c.(2188-2190)cGg>cAg	p.R730Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	730	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)	p.R730L(1)		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						GTTGCGCCTCCGCTCCTTCTT	0.647																																																	1	Substitution - Missense(1)	lung(1)											153	159	157					19																	8595219		2069	4178	6247	SO:0001583	missense	0			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.2189G>A	19.37:g.8595219C>T	ENSP00000344871:p.Arg730Gln		Q8WWN7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.R730Q	ENST00000338257.8	37	c.2189	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.555260	0.96514	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95171	-3.63	5.58	5.58	0.84498	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98939	1.0790	10	0.59425	D	0.04	.	18.61	0.91281	0.0:1.0:0.0:0.0	.	730	O00160	MYO1F_HUMAN	Q	775;730	ENSP00000344871:R730Q	ENSP00000304899:R775Q	R	-	2	0	MYO1F	8501219	1.000000	0.71417	0.596000	0.28811	0.822000	0.46500	6.041000	0.70988	2.647000	0.89833	0.555000	0.69702	CGG	MYO1F	-	pfam_Myosin_tail_2,superfamily_P-loop_NTPase	ENSG00000142347		0.647	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	-	0	61	0	C			8595219	-1	tier1	-	no_errors	ENST00000338257	ensembl	human	known	74_37	missense	30.00	35	15	SNP	1.000	T	T	8595219	C	T	8595219	3	4	155	1	0	0	0	0	1	0	0	0	10111	652	23	1	1139	1	MYO1F	19	8595219	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	1834327	8595219	50533764	234	39622											
MUC16	94025	genome.wustl.edu	37	chr19	9073601	9073601	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatgatgtttgactctgtAgttgagttcatctcctggag	8	15	12	6	0	3	3	1	3	2	0	4	5	3	5	1	2	0	4	1	2	1	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:9073601A>C	ENST00000397910.4	-	3	14048	c.13845T>G	c.(13843-13845)acT>acG	p.T4615T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4617	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						TTGACTCTGTAGTTGAGTTCA	0.478																																																	0													104	100	101					19																	9073601		1975	4162	6137	SO:0001819	synonymous_variant	0			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.13845T>G	19.37:g.9073601A>C			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T4615	ENST00000397910.4	37	c.13845	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	69	0	A	NM_024690		9073601	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	46.15	21	18	SNP	0.000	C	C	9073601	A	C	9073601	2	2	155	1	0	0	0	0	0	0	0	1	10011	407	15	4		4	MUC16	19	9073601	Silent	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	478382	9073601	50055382	235	39623											
FBXL12	54850	genome.wustl.edu	37	chr19	9922157	9922157	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gccatggagatctcgcagctGtgcagctccagggtcctcaa	8	8	12	13	1	2	1	1	0	1	1	5	2	4	1	3	2	3	4	3	2	1	0	rs151187593		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:9922157G>T	ENST00000247977.4	-	3	637	c.396C>A	c.(394-396)caC>caA	p.H132Q	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.H79Q|FBXL12_ENST00000592067.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.H79Q|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	132					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TCTCGCAGCTGTGCAGCTCCA	0.657																																																	0													65	70	68					19																	9922157		2203	4300	6503	SO:0001583	missense	0			AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"F-boxes / Leucine-rich repeats"	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.396C>A	19.37:g.9922157G>T	ENSP00000247977:p.His132Gln		B3KSJ8|Q9H5K4	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.H132Q	ENST00000247977.4	37	c.396	CCDS12218.1	19	.	.	.	.	.	.	.	.	.	.	G	7.608	0.674149	0.14841	.	.	ENSG00000127452	ENST00000247977	T	0.16457	2.34	4.76	3.67	0.42095	.	0.333100	0.32041	N	0.006678	T	0.07773	0.0195	N	0.08118	0	0.80722	D	1	B	0.16603	0.018	B	0.15484	0.013	T	0.26916	-1.0089	9	.	.	.	.	10.0288	0.42087	0.0:0.2228:0.7772:0.0	.	132	Q9NXK8	FXL12_HUMAN	Q	132	ENSP00000247977:H132Q	.	H	-	3	2	FBXL12	9783157	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.687000	0.25407	2.474000	0.83562	0.655000	0.94253	CAC	FBXL12	-	NULL	ENSG00000127452		0.657	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL12	HGNC	protein_coding	OTTHUMT00000450265.1		0	82	0	G	NM_017703		9922157	-1			no_errors	ENST00000247977	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	9922157	G	T	9922157	3	4	155	1	0	0	0	0	1	0	0	0	5730	1368	48	3	588	3	FBXL12	19	9922157	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	848556	9922157	49206826	236	39624											
TMED1	11018	genome.wustl.edu	37	chr19	10945648	10945648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacatccagcatctcctcggGctccacagcctctgcccatc	8	8	6	19	1	2	0	0	0	2	0	7	0	4	0	5	1	4	2	5	1	1	0			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:10945648G>A	ENST00000214869.2	-	3	525	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	TMED1_ENST00000588289.1_5'UTR|TMED1_ENST00000591695.1_Intron|C19orf38_ENST00000592854.1_5'Flank	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	143					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						ATCTCCTCGGGCTCCACAGCC	0.567																																																	0													172	160	164					19																	10945648		2203	4300	6503	SO:0001583	missense	0			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.427C>T	19.37:g.10945648G>A	ENSP00000214869:p.Pro143Ser			Missense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.P143S	ENST00000214869.2	37	c.427	CCDS12249.1	19	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134269	0.37630	.	.	ENSG00000099203	ENST00000214869	T	0.16073	2.37	5.02	5.02	0.67125	GOLD (1);	0.052373	0.85682	D	0.000000	T	0.25121	0.0610	M	0.73430	2.235	0.80722	D	1	B	0.25272	0.122	B	0.29267	0.1	T	0.04467	-1.0949	10	0.25106	T	0.35	-24.3746	17.1231	0.86706	0.0:0.0:1.0:0.0	.	143	Q13445	TMED1_HUMAN	S	143	ENSP00000214869:P143S	ENSP00000214869:P143S	P	-	1	0	TMED1	10806648	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	3.068000	0.50018	2.337000	0.79520	0.462000	0.41574	CCC	TMED1	-	pfam_GOLD	ENSG00000099203		0.567	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED1	HGNC	protein_coding	OTTHUMT00000452614.1	-	0	40	0	G	NM_006858		10945648	-1	tier1	-	no_errors	ENST00000214869	ensembl	human	known	74_37	missense	26.32	27	10	SNP	1.000	A	A	10945648	G	A	10945648	3	1	155	1	0	0	0	0	1	0	0	0	16049	1203	42	3	264	3	TMED1	19	10945648	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1023491	10945648	48183335	237	39625											
ZNF878	729747	genome.wustl.edu	37	chr19	12155719	12155719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatagggtttttttgcaGagtggattctttcatgtcta	8	19	9	5	0	4	1	2	0	2	1	4	2	4	2	0	2	1	2	0	2	2	8			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:12155719G>T	ENST00000547628.1	-	4	634	c.497C>A	c.(496-498)tCt>tAt	p.S166Y	CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.S213Y|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	166					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						TTTTTTTGCAGAGTGGATTCT	0.413																																																	0													139	153	148					19																	12155719		2101	4257	6358	SO:0001583	missense	0				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.497C>A	19.37:g.12155719G>T	ENSP00000447931:p.Ser166Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S213Y	ENST00000547628.1	37	c.638	CCDS45984.2	19	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926255	0.52759	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.19938	2.11	1.19	1.19	0.21007	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42471	0.1204	M	0.78285	2.405	0.18873	N	0.999981	D	0.76494	0.999	D	0.67103	0.949	T	0.14952	-1.0454	9	0.87932	D	0	.	9.3177	0.37943	0.0:0.0:1.0:0.0	.	166	C9JN71	ZN878_HUMAN	Y	166;213	ENSP00000447931:S166Y	ENSP00000447931:S166Y	S	-	2	0	AC022415.4;ZNF878	12016719	0.019000	0.18553	0.002000	0.10522	0.451000	0.32288	0.780000	0.26760	0.619000	0.30197	0.186000	0.17326	TCT	ZNF878	-	pfscan_Znf_C2H2	ENSG00000257446		0.413	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF878	HGNC	protein_coding	OTTHUMT00000403723.1	-	0	103	0	G	NM_001080404		12155719	-1	tier1	-	no_errors	ENST00000602107	ensembl	human	known	74_37	missense	5.81	81	5	SNP	0.996	T	T	12155719	G	T	12155719	3	4	155	1	0	0	0	0	1	0	0	0	18244	942	33	3	1102	3	ZNF878	19	12155719	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1210071	12155719	46973264	238	39626											
CACNA1A	773	genome.wustl.edu	37	chr19	13410024	13410024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggccgcaggtgccgcGtgtaggcagccttccagcgc	4	8	15	14	4	1	0	0	0	1	0	2	0	2	0	4	3	3	3	4	3	1	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:13410024G>A	ENST00000360228.5	-	19	2422	c.2423C>T	c.(2422-2424)aCg>aTg	p.T808M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.T809M	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	809					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)	p.T809M(3)|p.T808M(1)		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)	CAGGTGCCGCGTGTAGGCAGC	0.642																																																	4	Substitution - Missense(4)	prostate(4)											47	54	52					19																	13410024		2037	4162	6199	SO:0001583	missense	0			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.2423C>T	19.37:g.13410024G>A	ENSP00000353362:p.Thr808Met		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.T808M	ENST00000360228.5	37	c.2423	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	1.662	-0.511323	0.04231	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	3.99	1.56	0.23342	.	1.904990	0.03030	N	0.151895	D	0.91157	0.7215	N	0.24115	0.695	0.09310	N	1	P;P;P	0.46064	0.474;0.872;0.798	B;B;B	0.37480	0.058;0.251;0.128	D	0.84855	0.0816	10	0.72032	D	0.01	.	10.4736	0.44652	0.0:0.5243:0.4756:0.0	.	809;812;808	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	M	808;812;809;809	ENSP00000353362:T808M	ENSP00000317661:T809M	T	-	2	0	CACNA1A	13271024	0.167000	0.22975	0.052000	0.19188	0.010000	0.07245	1.666000	0.37460	0.847000	0.35167	0.555000	0.69702	ACG	CACNA1A	-	NULL	ENSG00000141837		0.642	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	-	0	115	0	G	NM_000068		13410024	-1	tier1	-	no_errors	ENST00000360228	ensembl	human	known	74_37	missense	21.92	57	16	SNP	0.252	A	A	13410024	G	A	13410024	3	1	155	1	0	0	0	0	1	0	0	0	2545	1145	40	1	5315	1	CACNA1A	19	13410024	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1254305	13410024	45718959	239	39627											
GDF1	2657	genome.wustl.edu	37	chr19	18980809	18980809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	caccgcggtccgggatgtggCgcacgatgtttccggcgacc	5	7	15	14	7	0	0	0	0	0	0	2	3	2	1	4	4	0	2	4	4	0	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:18980809C>T	ENST00000247005.6	-	7	1653	c.308G>A	c.(307-309)cGc>cAc	p.R103H	CERS1_ENST00000427170.2_3'UTR			P27539	GDF1_HUMAN	growth differentiation factor 1	103					growth (GO:0040007)	extracellular space (GO:0005615)											CGGGATGTGGCGCACGATGTT	0.716																																																	0													9	12	11					19																	18980809		2054	4192	6246	SO:0001583	missense	0			M62302	CCDS42526.1	19p13.11	2014-01-30			ENSG00000130283	ENSG00000130283		"Endogenous ligands"	4214	protein-coding gene	gene with protein product		602880				2034669	Standard	NM_001492		Approved			P27539		ENST00000247005.6:c.308G>A	19.37:g.18980809C>T	ENSP00000247005:p.Arg103His		O43344	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.R103H	ENST00000247005.6	37	c.308	CCDS42526.1	19	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302870	0.81136	.	.	ENSG00000130283	ENST00000247005	T	0.71222	-0.55	3.29	2.11	0.27256	.	0.064544	0.64402	U	0.000005	T	0.74535	0.3729	L	0.61218	1.895	0.49130	D	0.999753	.	.	.	.	.	.	T	0.77498	-0.2565	8	0.87932	D	0	.	10.3268	0.43798	0.1971:0.8028:0.0:0.0	.	.	.	.	H	103	ENSP00000247005:R103H	ENSP00000247005:R103H	R	-	2	0	GDF1	18841809	0.991000	0.36638	0.999000	0.59377	0.888000	0.51559	1.780000	0.38634	1.558000	0.49541	0.471000	0.43371	CGC	GDF1	-	pfam_TGF-b_N	ENSG00000130283		0.716	GDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF1	HGNC	protein_coding	OTTHUMT00000465926.1	-	0	23	0	C	NM_001492		18980809	-1	tier1	-	no_errors	ENST00000247005	ensembl	human	known	74_37	missense	58.33	5	7	SNP	0.949	T	T	18980809	C	T	18980809	3	4	155	1	0	0	0	0	1	0	0	0	6336	768	27	1	818	1	GDF1	19	18980809	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	5570785	18980809	40148174	240	39628											
ZNF90	7643	genome.wustl.edu	37	chr19	20228743	20228743	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgagggtaaagtacacaAaagaggttataatggactta	17	9	12	3	0	0	2	0	1	0	1	0	4	0	4	0	4	1	3	0	4	8	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:20228743A>C	ENST00000418063.2	+	4	492	c.380A>C	c.(379-381)aAa>aCa	p.K127T	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	127					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						AAAGTACACAAAAGAGGTTAT	0.328																																																	0													119	110	112					19																	20228743		692	1591	2283	SO:0001583	missense	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.380A>C	19.37:g.20228743A>C	ENSP00000410466:p.Lys127Thr		B9EH87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K127T	ENST00000418063.2	37	c.380	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	a	2.012	-0.426868	0.04701	.	.	ENSG00000213988	ENST00000418063	T	0.05081	3.5	0.81	-1.62	0.08372	.	.	.	.	.	T	0.09686	0.0238	M	0.85197	2.74	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.28618	-1.0038	9	0.51188	T	0.08	.	4.1737	0.10341	0.7415:0.0:0.2585:0.0	.	127	Q03938	ZNF90_HUMAN	T	127	ENSP00000410466:K127T	ENSP00000410466:K127T	K	+	2	0	ZNF90	20089743	0.000000	0.05858	0.036000	0.18154	0.036000	0.12997	-1.636000	0.02016	-1.367000	0.02152	-1.412000	0.01120	AAA	ZNF90	-	NULL	ENSG00000213988		0.328	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	-	0	159	0	A	NM_007138		20228743	1	tier1	-	no_errors	ENST00000418063	ensembl	human	known	74_37	missense	29.90	68	29	SNP	0.000	C	C	20228743	A	C	20228743	3	2	155	1	0	0	0	0	1	0	0	0	18247	14	1	4	394	4	ZNF90	19	20228743	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	1247934	20228743	38900240	241	39629											
ZNF100	163227	genome.wustl.edu	37	chr19	21910725	21910725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccatattttttcagaatcGcttcttgaaaagaatcttta	12	18	4	7	1	3	3	1	1	2	2	5	3	4	3	1	0	0	1	1	0	6	9	rs111519833		TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:21910725G>A	ENST00000358296.6	-	5	587	c.389C>T	c.(388-390)gCg>gTg	p.A130V	ZNF100_ENST00000305570.6_Missense_Mutation_p.A66V	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTTCAGAATCGCTTCTTGAAA	0.318													N|||	1	0.000199681	0	0.0014	5008	,	,		17384	0		0	False		,,,				2504	0																0													62	60	61					19																	21910725		1935	4170	6105	SO:0001583	missense	0			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.389C>T	19.37:g.21910725G>A	ENSP00000351042:p.Ala130Val		Q7M4M0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A130V	ENST00000358296.6	37	c.389	CCDS42538.1	19	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.489479	0.00161	.	.	ENSG00000197020	ENST00000358296	T	0.04917	3.53	0.131	0.131	0.14755	.	.	.	.	.	T	0.01156	0.0038	N	0.00289	-1.7	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.46456	-0.9190	9	0.02654	T	1	.	4.014	0.09636	0.0:1.0E-4:0.3753:0.6246	.	130;184	Q8IYN0;Q4G131	ZN100_HUMAN;.	V	130	ENSP00000351042:A130V	ENSP00000351042:A130V	A	-	2	0	ZNF100	21702565	0.006000	0.16342	0.081000	0.20488	0.080000	0.17528	0.082000	0.14847	0.171000	0.19730	0.174000	0.16983	GCG	ZNF100	-	NULL	ENSG00000197020		0.318	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	HGNC	protein_coding	OTTHUMT00000464087.1	-	0	92	0	G	NM_173531		21910725	-1	tier1	rs111519833	no_errors	ENST00000358296	ensembl	human	known	74_37	missense	23.08	40	12	SNP	0.315	A	A	21910725	G	A	21910725	3	1	155	1	0	0	0	0	1	0	0	0	17761	1087	38	1	1243	1	ZNF100	19	21910725	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1681982	21910725	37218258	242	39630											
ZNF675	171392	genome.wustl.edu	37	chr19	23836409	23836409	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccagtatgaagtttcttAtgttcagtaagttttgagga	10	18	9	4	0	2	2	1	2	1	0	3	3	3	3	1	1	0	5	1	1	4	8			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:23836409A>G	ENST00000359788.4	-	4	1494	c.1326T>C	c.(1324-1326)caT>caC	p.H442H	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	442				H -> Y (in Ref. 1; AAK95822). {ECO:0000305}.	bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAAGTTTCTTATGTTCAGTAA	0.363																																																	0													49	52	51					19																	23836409		2201	4300	6501	SO:0001819	synonymous_variant	0				CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1326T>C	19.37:g.23836409A>G			Q8N211	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H442	ENST00000359788.4	37	c.1326	CCDS32981.1	19																																																																																			ZNF675	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197372		0.363	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	-	0	76	0	A	NM_138330		23836409	-1	tier1	-	no_errors	ENST00000359788	ensembl	human	known	74_37	silent	34.48	38	20	SNP	0.665	G	G	23836409	A	G	23836409	2	3	155	1	0	0	0	0	0	0	0	1	18130	446	16	4		4	ZNF675	19	23836409	Silent	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	1925684	23836409	35292574	243	39631											
ZNF461	92283	genome.wustl.edu	37	chr19	37129715	37129715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgatggtgtgagaagCttgaatgatagctaaaggcc	11	12	12	6	0	1	4	0	4	1	1	2	5	1	4	1	2	2	2	1	2	5	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:37129715C>T	ENST00000588268.1	-	6	1759	c.1532G>A	c.(1531-1533)aGc>aAc	p.S511N	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.S488N	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	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)|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)			GTGTGAGAAGCTTGAATGATA	0.368																																																	0													102	111	108					19																	37129715		2198	4298	6496	SO:0001583	missense	0			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.1532G>A	19.37:g.37129715C>T	ENSP00000467931:p.Ser511Asn		A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S511N	ENST00000588268.1	37	c.1532	CCDS54257.1	19	.	.	.	.	.	.	.	.	.	.	C	8.904	0.957155	0.18507	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605;ENST00000396892	T	0.15718	2.4	3.21	0.849	0.18972	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15305	0.0369	N	0.17082	0.46	0.09310	N	1	D;P;B	0.54601	0.967;0.846;0.024	P;B;B	0.57776	0.827;0.351;0.007	T	0.13335	-1.0513	9	0.33940	T	0.23	.	2.6055	0.04877	0.2319:0.5036:0.0:0.2645	.	488;433;511	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	N	511;242;488;384;205	ENSP00000353515:S488N	ENSP00000353515:S488N	S	-	2	0	ZNF461	41821555	0.000000	0.05858	0.950000	0.38849	0.982000	0.71751	-2.531000	0.00943	0.147000	0.19030	0.491000	0.48974	AGC	ZNF461	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197808		0.368	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF461	HGNC	protein_coding	OTTHUMT00000453202.1	-	0	93	0	C	NM_153257		37129715	-1	tier1	-	no_errors	ENST00000588268	ensembl	human	known	74_37	missense	19.12	55	13	SNP	0.000	T	T	37129715	C	T	37129715	3	4	155	1	0	0	0	0	1	0	0	0	17973	797	28	3	163	3	ZNF461	19	37129715	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	13293306	37129715	21999268	244	39632											
ZNF540	163255	genome.wustl.edu	37	chr19	38102847	38102847	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgtgagaaatgtgggaaAgtttttagtcatagctatca	15	13	10	3	0	2	1	2	1	0	1	2	3	2	2	0	1	1	2	0	1	6	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:38102847A>G	ENST00000592533.1	+	5	998	c.666A>G	c.(664-666)aaA>aaG	p.K222K	ZNF540_ENST00000589117.1_Silent_p.K190K|ZNF540_ENST00000316433.4_Silent_p.K222K|ZNF540_ENST00000343599.5_Silent_p.K222K	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	222					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGAAAGTTTTTAGTC	0.358																																																	0													48	49	48					19																	38102847		2203	4299	6502	SO:0001819	synonymous_variant	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.666A>G	19.37:g.38102847A>G			A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K222	ENST00000592533.1	37	c.666	CCDS12506.1	19																																																																																			ZNF540	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.358	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	-	0	76	0	A	NM_152606		38102847	1	tier1	-	no_errors	ENST00000316433	ensembl	human	known	74_37	silent	32.08	36	17	SNP	0.102	G	G	38102847	A	G	38102847	2	3	155	1	0	0	0	0	0	0	0	1	18023	69	3	4		4	ZNF540	19	38102847	Silent	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	973132	38102847	21026136	245	39633											
ACTN4	81	genome.wustl.edu	37	chr19	39198794	39198794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaatgccctgatccacCggcacagaccagagctgatt	10	8	8	15	1	1	4	1	2	0	2	2	4	2	4	5	1	2	2	5	1	1	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:39198794C>T	ENST00000252699.2	+	6	686	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	204	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			CCTGATCCACCGGCACAGACC	0.567																																					Colon(168;199 1940 10254 46213 46384)												0													218	146	170					19																	39198794		2203	4300	6503	SO:0001583	missense	0			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.610C>T	19.37:g.39198794C>T	ENSP00000252699:p.Arg204Trp		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R204W	ENST00000252699.2	37	c.610	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487111	0.84854	.	.	ENSG00000130402	ENST00000252699;ENST00000445727	D	0.95205	-3.64	5.08	3.98	0.46160	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97442	1.0022	10	0.87932	D	0	.	10.7939	0.46449	0.3147:0.6853:0.0:0.0	.	204;204	E7EV83;O43707	.;ACTN4_HUMAN	W	204	ENSP00000252699:R204W	ENSP00000252699:R204W	R	+	1	2	ACTN4	43890634	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.637000	0.54324	2.804000	0.96469	0.462000	0.41574	CGG	ACTN4	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000130402		0.567	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	-	0	56	0	C			39198794	1	tier1	-	no_errors	ENST00000252699	ensembl	human	known	74_37	missense	22.41	45	13	SNP	1.000	T	T	39198794	C	T	39198794	3	4	155	1	0	0	0	0	1	0	0	0	207	643	23	1	632	1	ACTN4	19	39198794	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	1095947	39198794	19930189	246	39634											
LTBP4	8425	genome.wustl.edu	37	chr19	41105104	41105104	+	De_novo_Start_InFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccactccactatttatagcGttgctgtttgtcgctgctgc	5	16	8	12	2	0	0	0	0	0	0	3	0	2	0	2	0	4	5	2	0	3	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:41105104G>A	ENST00000545697.1	+	0	18				LTBP4_ENST00000204005.9_Splice_Site_p.A6A|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_5'Flank|LTBP4_ENST00000308370.7_Splice_Site_p.V50I			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)			TATTTATAGCGTTGCTGTTTG	0.582											OREG0025473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													38	41	40					19																	41105104		1959	4133	6092			0			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			19.37:g.41105104G>A		898	O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.V50I	ENST00000545697.1	37	c.148		19	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944770	0.18356	.	.	ENSG00000090006	ENST00000308370	T	0.81078	-1.45	3.5	-7.0	0.01599	.	.	.	.	.	T	0.61837	0.2379	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45338	-0.9268	8	0.34782	T	0.22	.	5.782	0.18312	0.4016:0.4101:0.1883:0.0	.	50	Q8N2S1	LTBP4_HUMAN	I	50	ENSP00000311905:V50I	ENSP00000311905:V50I	V	+	1	0	LTBP4	45796944	0.000000	0.05858	0.000000	0.03702	0.806000	0.45545	-0.830000	0.04410	-1.109000	0.02996	0.455000	0.32223	GTT	LTBP4	-	NULL	ENSG00000090006		0.582	LTBP4-205	KNOWN	basic	protein_coding	LTBP4	HGNC	protein_coding		-	0	53	0	G	NM_003573		41105104	1	tier1	-	no_errors	ENST00000308370	ensembl	human	known	74_37	missense	18.60	34	8	SNP	0.000	A	A	41105104	G	A	41105104	1	1	155	1	0	1	0	0	0	0	0	0	9111	1159	40	1		1	LTBP4	19	41105104	De_novo_Start_InFrame	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	1906310	41105104	18023879	247	39635											
ZNF224	7767	genome.wustl.edu	37	chr19	44611163	44611163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacatcagagaatccatacgGgggagaagccattcaaatgt	16	7	10	8	1	2	2	2	0	0	2	3	4	3	2	2	2	3	0	2	2	5	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:44611163G>C	ENST00000336976.6	+	6	1104	c.850G>C	c.(850-852)Ggg>Cgg	p.G284R	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	284					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)				AATCCATACGGGGGAGAAGCC	0.433																																																	0													132	135	134					19																	44611163		2203	4300	6503	SO:0001583	missense	0			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.850G>C	19.37:g.44611163G>C	ENSP00000337368:p.Gly284Arg		A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G284R	ENST00000336976.6	37	c.850	CCDS33046.1	19	.	.	.	.	.	.	.	.	.	.	g	17.74	3.463444	0.63513	.	.	ENSG00000186019	ENST00000336976	T	0.01629	4.72	3.44	-0.0121	0.13989	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05410	0.0143	L	0.51853	1.615	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37572	-0.9700	9	0.59425	D	0.04	.	5.3527	0.16043	0.2037:0.0:0.6303:0.166	.	284	Q9NZL3	ZN224_HUMAN	R	284	ENSP00000337368:G284R	ENSP00000337368:G284R	G	+	1	0	ZNF224	49303003	0.973000	0.33851	0.003000	0.11579	0.415000	0.31203	2.463000	0.45058	0.248000	0.21435	0.591000	0.81541	GGG	ZNF224	-	pfscan_Znf_C2H2	ENSG00000267680		0.433	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF224	HGNC	protein_coding	OTTHUMT00000460477.1	-	0	104	0	G	NM_013398		44611163	1	tier1	-	no_errors	ENST00000336976	ensembl	human	known	74_37	missense	7.61	85	7	SNP	0.158	C	C	44611163	G	C	44611163	3	2	155	1	0	0	0	0	1	0	0	0	17826	1232	43	5	864	5	ZNF224	19	44611163	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	3506059	44611163	14517820	248	39636											
SNRPD2	6633	genome.wustl.edu	37	chr19	46190958	46190958	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcagtccacatctccttCacgttctccagcaccatgtt	8	12	4	17	1	4	0	2	0	2	0	7	0	5	0	5	0	1	3	5	0	0	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:46190958C>T	ENST00000342669.3	-	3	654	c.210G>A	c.(208-210)gtG>gtA	p.V70V	SNRPD2_ENST00000391932.3_Silent_p.V60V|SNRPD2_ENST00000590212.1_Silent_p.*79*|SNRPD2_ENST00000585392.1_Silent_p.V6V|SNRPD2_ENST00000588301.1_Silent_p.V70V|SNRPD2_ENST00000587367.1_Silent_p.V60V|SNRPD2_ENST00000588599.1_Silent_p.V60V	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	70					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		ACATCTCCTTCACGTTCTCCA	0.602																																																	0													127	98	108					19																	46190958		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"snRNP core protein D2"	601061	"small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.210G>A	19.37:g.46190958C>T			A8K797|J3KPM5|P43330	Silent	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.V70	ENST00000342669.3	37	c.210	CCDS33053.1	19																																																																																			SNRPD2	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000125743		0.602	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD2	HGNC	protein_coding	OTTHUMT00000459648.1	-	0	40	0	C	NM_004597		46190958	-1	tier1	-	no_errors	ENST00000342669	ensembl	human	known	74_37	silent	29.41	36	15	SNP	1.000	T	T	46190958	C	T	46190958	2	4	155	1	0	0	0	0	0	0	0	1	14910	813	29	3		3	SNRPD2	19	46190958	Silent	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	1579795	46190958	12938025	249	39637											
GPR77	27202	genome.wustl.edu	37	chr19	47844342	47844342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcagtgcccattgccCgtggaggccactggccgtat	5	9	13	14	2	0	0	0	0	0	0	1	1	1	1	5	4	2	2	5	4	1	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:47844342C>T	ENST00000595464.1	+	2	504	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	C5AR2_ENST00000600626.1_Missense_Mutation_p.R96C|C5AR2_ENST00000257267.2_Missense_Mutation_p.R96C	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	96					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										GCCCATTGCCCGTGGAGGCCA	0.662																																																	0													93	87	89					19																	47844342		2203	4300	6503	SO:0001583	missense	0			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"GPCR / Class A : Complement component receptors"	4527	protein-coding gene	gene with protein product		609949	"G protein-coupled receptor 77"	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.286C>T	19.37:g.47844342C>T	ENSP00000472620:p.Arg96Cys		B2RA09	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Anaphtx_C5AR1/C5AR2	p.R96C	ENST00000595464.1	37	c.286	CCDS12699.1	19	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650838	0.29336	.	.	ENSG00000134830	ENST00000257267	T	0.71698	-0.59	4.22	-0.73	0.11154	GPCR, rhodopsin-like superfamily (1);	0.982101	0.08314	U	0.964896	T	0.70710	0.3255	L	0.57536	1.79	0.09310	N	1	D	0.60160	0.987	P	0.52909	0.713	T	0.59311	-0.7478	10	0.62326	D	0.03	.	4.0878	0.09955	0.1618:0.5331:0.0:0.3051	.	96	Q9P296	C5ARL_HUMAN	C	96	ENSP00000257267:R96C	ENSP00000257267:R96C	R	+	1	0	GPR77	52536182	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.261000	0.08694	-0.215000	0.10063	-0.521000	0.04368	CGT	C5AR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000134830		0.662	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR2	HGNC	protein_coding	OTTHUMT00000466926.1	-	0	21	0	C	NM_018485		47844342	1	tier1	-	no_errors	ENST00000257267	ensembl	human	known	74_37	missense	38.46	8	5	SNP	0.002	T	T	47844342	C	T	47844342	3	4	155	1	0	0	0	0	1	0	0	0	6735	652	23	1	288	1	GPR77	19	47844342	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	1653384	47844342	11284641	250	39638											
RPS9	6203	genome.wustl.edu	37	chr19	54711426	54711426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggctggggctggagacGacgaggaggaggattaagtc	9	6	21	5	2	0	1	0	0	0	1	1	7	0	4	0	8	0	2	0	8	1	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:54711426G>T	ENST00000302907.4	+	5	740	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	RPS9_ENST00000441429.1_3'UTR|RPS9_ENST00000391751.3_3'UTR|RPS9_ENST00000391752.1_Missense_Mutation_p.D190Y|RPS9_ENST00000391753.2_Missense_Mutation_p.D190Y|RPS9_ENST00000402367.1_3'UTR	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	190					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		GGCTGGAGACGACGAGGAGGA	0.597																																																	0													23	23	23					19																	54711426		2202	4300	6502	SO:0001583	missense	0			U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"S ribosomal proteins"	10442	protein-coding gene	gene with protein product	"40S ribosomal protein S9"	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.568G>T	19.37:g.54711426G>T	ENSP00000302896:p.Asp190Tyr		A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,smart_S4_RNA-bd,pfscan_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc	p.D190Y	ENST00000302907.4	37	c.568	CCDS12884.1	19	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791120	0.70452	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000391753	T;T;T	0.53640	0.61;0.61;0.61	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	L	0.47190	1.495	0.80722	D	1	B	0.33549	0.417	B	0.24394	0.053	T	0.44314	-0.9336	10	0.62326	D	0.03	-34.7015	15.8659	0.79063	0.0:0.0:1.0:0.0	.	190	P46781	RS9_HUMAN	Y	190	ENSP00000302896:D190Y;ENSP00000375632:D190Y;ENSP00000375633:D190Y	ENSP00000302896:D190Y	D	+	1	0	RPS9	59403238	1.000000	0.71417	0.813000	0.32504	0.871000	0.50021	8.552000	0.90682	2.692000	0.91855	0.655000	0.94253	GAC	RPS9	-	NULL	ENSG00000170889		0.597	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS9	HGNC	protein_coding	OTTHUMT00000142834.3	-	0	38	0	G	NM_001013		54711426	1	tier1	-	no_errors	ENST00000302907	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	T	T	54711426	G	T	54711426	3	4	155	1	0	0	0	0	1	0	0	0	13707	1058	37	2	582	2	RPS9	19	54711426	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	6867084	54711426	4417557	251	39639											
LILRA1	11024	genome.wustl.edu	37	chr19	55107841	55107841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctaagtaccaggctgaattCcctatgagtcctgtgacctc	9	11	8	13	0	0	3	0	3	0	0	3	3	2	3	5	1	1	2	5	1	4	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:55107841C>A	ENST00000251372.3	+	7	1328	c.1146C>A	c.(1144-1146)ttC>ttA	p.F382L	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	382	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)		AGGCTGAATTCCCTATGAGTC	0.587																																																	0													151	144	147					19																	55107841		2203	4300	6503	SO:0001583	missense	0			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.1146C>A	19.37:g.55107841C>A	ENSP00000251372:p.Phe382Leu		O75018|Q3MJA6	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.F382L	ENST00000251372.3	37	c.1146	CCDS12901.1	19	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983038	0.34942	.	.	ENSG00000104974	ENST00000251372	T	0.00642	6.02	1.8	0.73	0.18271	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.954871	0.08577	N	0.925155	T	0.04998	0.0134	H	0.96301	3.8	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.19418	-1.0306	10	0.72032	D	0.01	.	4.5437	0.12071	0.0:0.798:0.0:0.202	.	382	O75019	LIRA1_HUMAN	L	382	ENSP00000251372:F382L	ENSP00000251372:F382L	F	+	3	2	LILRA1	59799653	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.436000	0.06922	0.328000	0.23435	-1.054000	0.02325	TTC	LILRA1	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000104974		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	-	0	175	0	C	NM_006863		55107841	1	tier1	-	no_errors	ENST00000251372	ensembl	human	known	74_37	missense	7.44	111	9	SNP	0.002	A	A	55107841	C	A	55107841	3	1	155	1	0	0	0	0	1	0	0	0	8813	854	30	3	1168	3	LILRA1	19	55107841	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	396415	55107841	4021142	252	39640											
PEG3	5178	genome.wustl.edu	37	chr19	57326073	57326073	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaatcatcttccctatgaAgtctcatatgctcattaagg	12	14	6	9	0	4	1	3	1	2	0	6	1	5	1	1	1	1	2	1	1	6	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:57326073A>C	ENST00000326441.9	-	10	4100	c.3737T>G	c.(3736-3738)cTt>cGt	p.L1246R	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.L1246R|PEG3_ENST00000593695.1_Missense_Mutation_p.L1120R|PEG3_ENST00000598410.1_Missense_Mutation_p.L1122R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1246					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)		TTCCCTATGAAGTCTCATATG	0.498																																																	0													50	45	47					19																	57326073		2203	4300	6503	SO:0001583	missense	0			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.3737T>G	19.37:g.57326073A>C	ENSP00000326581:p.Leu1246Arg		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L1246R	ENST00000326441.9	37	c.3737	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803336	0.31869	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.29142	1.58;1.58	4.06	1.93	0.25924	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.928181	0.08927	N	0.873592	T	0.29749	0.0743	N	0.17723	0.515	.	.	.	B;D;P	0.55800	0.17;0.973;0.714	B;P;B	0.55455	0.091;0.776;0.418	T	0.28554	-1.0040	9	0.87932	D	0	-3.0727	4.2058	0.10488	0.3908:0.1548:0.0:0.4544	.	1122;1246;1181	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	R	1246	ENSP00000326581:L1246R;ENSP00000403051:L1246R	ENSP00000326581:L1246R	L	-	2	0	ZIM2	62017885	0.000000	0.05858	0.000000	0.03702	0.730000	0.41778	0.143000	0.16115	0.339000	0.23719	0.533000	0.62120	CTT	PEG3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198300		0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	45	0	A			57326073	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	47.83	12	11	SNP	0.001	C	C	57326073	A	C	57326073	3	2	155	1	0	0	0	0	1	0	0	0	11759	72	3	4	1033	4	PEG3	19	57326073	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	2218232	57326073	1802910	253	39641											
ZNF772	400720	genome.wustl.edu	37	chr19	57984813	57984813	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacattcactgcacacataAggcttttcaccattatgaac	13	11	4	13	0	2	1	2	1	0	0	2	1	2	1	2	1	2	2	2	1	3	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:57984813A>G	ENST00000343280.4	-	5	1559	c.1299T>C	c.(1297-1299)ccT>ccC	p.P433P	ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Silent_p.P321P|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Silent_p.P392P	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	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)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		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)|Lung(386;0.174)		TGCACACATAAGGCTTTTCAC	0.418																																					Melanoma(5;289 436 14293 15924 30817)												0													115	101	106					19																	57984813		2203	4300	6503	SO:0001819	synonymous_variant	0			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.1299T>C	19.37:g.57984813A>G			A6NJK9|B4DH56|B4DYS0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P433	ENST00000343280.4	37	c.1299	CCDS33133.1	19																																																																																			ZNF772	-	pfscan_Znf_C2H2	ENSG00000197128		0.418	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	HGNC	protein_coding	OTTHUMT00000397447.1	-	0	65	0	A	NM_001024596		57984813	-1	tier1	-	no_errors	ENST00000343280	ensembl	human	known	74_37	silent	37.31	42	25	SNP	0.149	G	G	57984813	A	G	57984813	2	3	155	1	0	0	0	0	0	0	0	1	18193	59	3	4		4	ZNF772	19	57984813	Silent	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09	658740	57984813	1144170	254	39642											
ZNF587	84914	genome.wustl.edu	37	chr19	58370470	58370470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacactcagttattccacaCcagaaacttttcactagaga	16	10	4	11	0	2	2	2	0	0	2	3	3	3	2	2	0	2	1	2	0	4	5			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr19:58370470C>T	ENST00000339656.5	+	3	872	c.690C>T	c.(688-690)caC>caT	p.H230H	ZNF814_ENST00000597652.1_5'Flank|ZNF587_ENST00000419854.1_Silent_p.H187H|ZNF587_ENST00000423137.1_Silent_p.H229H|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	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)			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)		TTATTCCACACCAGAAACTTT	0.423																																					Pancreas(59;641 1233 1885 20055 50741)												0													55	50	52					19																	58370470		2183	4275	6458	SO:0001819	synonymous_variant	0			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.690C>T	19.37:g.58370470C>T			A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H230	ENST00000339656.5	37	c.690	CCDS12964.1	19																																																																																			ZNF587	-	NULL	ENSG00000198466		0.423	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000337594.2	-	0	35	0	C	NM_032828		58370470	1	tier1	-	no_errors	ENST00000339656	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.997	T	T	58370470	C	T	58370470	2	4	155	1	0	0	0	0	0	0	0	1	18068	506	18	3		3	ZNF587	19	58370470	Silent	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	385657	58370470	758513	255	39643											
NINL	22981	genome.wustl.edu	37	chr20	25457438	25457438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaccagcccatctttcGgcagggcctgcatctctgct	5	10	9	17	1	2	0	0	0	2	0	4	0	2	0	4	2	4	3	4	2	0	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr20:25457438G>A	ENST00000278886.6	-	17	2562	c.2489C>T	c.(2488-2490)cCg>cTg	p.P830L	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	830					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						CCCATCTTTCGGCAGGGCCTG	0.682																																																	0													36	33	34					20																	25457438		2203	4300	6503	SO:0001583	missense	0				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.2489C>T	20.37:g.25457438G>A	ENSP00000278886:p.Pro830Leu		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.P830L	ENST00000278886.6	37	c.2489	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.876448	0.00537	.	.	ENSG00000101004	ENST00000278886	T	0.19806	2.12	2.57	-0.0918	0.13659	.	4.027350	0.00424	N	0.000078	T	0.10766	0.0263	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15665	-1.0429	10	0.15952	T	0.53	0.215	2.4589	0.04536	0.4893:0.284:0.2267:0.0	.	830	Q9Y2I6	NINL_HUMAN	L	830	ENSP00000278886:P830L	ENSP00000278886:P830L	P	-	2	0	NINL	25405438	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.293000	0.19029	-0.035000	0.13691	-0.304000	0.09214	CCG	NINL	-	NULL	ENSG00000101004		0.682	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	-	0	21	0	G	NM_025176		25457438	-1	tier1	-	no_errors	ENST00000278886	ensembl	human	known	74_37	missense	30.77	18	8	SNP	0.000	A	A	25457438	G	A	25457438	3	1	155	1	0	0	0	0	1	0	0	0	10459	1116	39	1	1691	1	NINL	20	25457438	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09		25457438	37568082	256	39644											
SERINC3	10955	genome.wustl.edu	37	chr20	43138568	43138568	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtttccttcttccattcGatttacccatgattcattcc	6	18	5	12	1	2	1	1	1	1	0	6	2	5	1	4	1	1	1	4	1	1	8			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr20:43138568G>T	ENST00000342374.4	-	5	734	c.577C>A	c.(577-579)Cga>Aga	p.R193R	SERINC3_ENST00000541235.1_Silent_p.R138R|SERINC3_ENST00000255175.1_Silent_p.R193R	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	193					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)			TCTTCCATTCGATTTACCCAT	0.443																																																	0													228	190	203					20																	43138568		2203	4300	6503	SO:0001819	synonymous_variant	0			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.577C>A	20.37:g.43138568G>T			B4DUE9|O43717|Q9BR33	Silent	SNP	pfam_TMS_TDE	p.R193	ENST00000342374.4	37	c.577	CCDS13333.1	20																																																																																			SERINC3	-	pfam_TMS_TDE	ENSG00000132824		0.443	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3	-	0	52	0	G	NM_006811		43138568	-1	tier1	-	no_errors	ENST00000255175	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.750	T	T	43138568	G	T	43138568	2	4	155	1	0	0	0	0	0	0	0	1	14126	1066	37	2		2	SERINC3	20	43138568	Silent	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	17681130	43138568	19886952	257	39645											
TMPRSS15	5651	genome.wustl.edu	37	chr21	19737458	19737458	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atataagatcttgtattaccGtatgatccactggcagacaa	14	12	7	8	1	1	3	0	1	1	2	2	3	2	3	2	1	1	3	2	1	6	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr21:19737458G>A	ENST00000284885.3	-	7	805	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	258	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)	p.R258S(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGTATTACCGTATGATCCAC	0.343																																																	1	Substitution - Missense(1)	lung(1)											133	129	130					21																	19737458		2203	4300	6503	SO:0001630	splice_region_variant	0				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.773+1C>T	21.37:g.19737458G>A			Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.R258C	ENST00000284885.3	37	c.772	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383162	0.61845	.	.	ENSG00000154646	ENST00000284885	T	0.20069	2.1	5.09	1.06	0.20224	CUB (5);	0.532256	0.19238	N	0.119244	T	0.38957	0.1060	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.15896	-1.0421	9	.	.	.	.	3.284	0.06925	0.0849:0.151:0.4524:0.3116	.	258	P98073	ENTK_HUMAN	C	258	ENSP00000284885:R258C	.	R	-	1	0	TMPRSS15	18659329	0.993000	0.37304	0.998000	0.56505	0.807000	0.45602	0.019000	0.13444	0.079000	0.16929	-0.196000	0.12772	CGT	TMPRSS15	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000154646		0.343	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2		0	66	0	G	NM_002772	Missense_Mutation	19737458	-1			no_errors	ENST00000284885	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.998	A	A	19737458	G	A	19737458	5	1	155	1	0	0	0	0	0	0	1	0	16293	1159	40	1	2363	1	TMPRSS15	21	19737458	Splice_Site	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09		19737458	28392437	258	39646											
MED15	51586	genome.wustl.edu	37	chr22	20937531	20937531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaacaagatcgacaagaacGaaggtaggctgcagccaggg	15	4	13	9	2	1	2	1	0	0	2	2	4	1	2	1	3	4	3	1	3	6	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chr22:20937531G>A	ENST00000263205.7	+	12	1738	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	MED15_ENST00000406969.1_Missense_Mutation_p.E491K|MED15_ENST00000382974.2_Missense_Mutation_p.E446K|MED15_ENST00000541476.1_Missense_Mutation_p.E491K|MED15_ENST00000292733.7_Missense_Mutation_p.E517K|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.E406K	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	557					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CGACAAGAACGAAGGTAGGCT	0.582																																																	0													76	78	78					22																	20937531		2203	4300	6503	SO:0001583	missense	0			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1669G>A	22.37:g.20937531G>A	ENSP00000263205:p.Glu557Lys		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	pfam_Mediator_Med15_met	p.E557K	ENST00000263205.7	37	c.1669	CCDS33602.1	22	.	.	.	.	.	.	.	.	.	.	G	34	5.340189	0.95783	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.76	5.76	0.90799	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	M	0.73217	2.22	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	0.81914	0.967;0.995;0.995;0.992;0.965;0.995	T	0.79831	-0.1637	9	0.66056	D	0.02	.	17.4554	0.87605	0.0:0.0:1.0:0.0	.	487;536;173;491;517;557	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	K	406;517;557;491;446;491;487	.	ENSP00000263205:E557K	E	+	1	0	MED15	19267531	1.000000	0.71417	0.980000	0.43619	0.949000	0.60115	9.139000	0.94554	2.724000	0.93272	0.561000	0.74099	GAA	MED15	-	pfam_Mediator_Med15_met	ENSG00000099917		0.582	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2	-	0	53	0	G	NM_015889		20937531	1	tier1	-	no_errors	ENST00000263205	ensembl	human	known	74_37	missense	57.58	14	19	SNP	1.000	A	A	20937531	G	A	20937531	3	1	155	1	0	0	0	0	1	0	0	0	9471	1059	37	1	1715	1	MED15	22	20937531	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09		20937531	30367035	259	39647											
BMX	660	genome.wustl.edu	37	chrX	15543485	15543485	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaccacctcaaagatttCatggtaaatcaaattcagat	16	11	4	10	0	5	2	5	0	0	2	5	2	5	2	2	1	0	1	2	1	4	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrX:15543485C>A	ENST00000357607.2	+	8	1015	c.827C>A	c.(826-828)tCa>tAa	p.S276*	BMX_ENST00000348343.6_Nonsense_Mutation_p.S276*|BMX_ENST00000342014.6_Nonsense_Mutation_p.S276*			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	276					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TCAAAGATTTCATGGTAAATC	0.353																																																	0													109	98	102					X																	15543485		2203	4300	6503	SO:0001587	stop_gained	0			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.827C>A	X.37:g.15543485C>A	ENSP00000350224:p.Ser276*		A6NIH9|O60564|Q12871	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif	p.S276*	ENST00000357607.2	37	c.827	CCDS14168.1	X	.	.	.	.	.	.	.	.	.	.	C	39	7.393451	0.98255	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	.	.	.	4.66	4.66	0.58398	.	0.607939	0.14121	N	0.340043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8926	0.52638	0.0:1.0:0.0:0.0	.	.	.	.	X	276	.	ENSP00000340082:S276X	S	+	2	0	BMX	15453406	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.233000	0.51311	2.290000	0.77057	0.600000	0.82982	TCA	BMX	-	NULL	ENSG00000102010		0.353	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	-	0	35	0	C	NM_001721		15543485	1	tier1	-	no_errors	ENST00000342014	ensembl	human	known	74_37	nonsense	13.04	20	3	SNP	1.000	A	A	15543485	C	A	15543485	4	1	155	1	0	0	0	0	0	1	0	0	1475	838	29	3	853	3	BMX	23	15543485	Nonsense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09		15543485	139727075	260	39648											
ELK1	2002	genome.wustl.edu	37	chrX	47498709	47498709	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacaaacttgtagacgaacTtctggccgctcaccttgcgg	10	9	9	13	3	2	1	1	0	1	1	2	2	2	1	2	2	3	2	2	2	3	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrX:47498709T>C	ENST00000247161.3	-	3	338	c.239A>G	c.(238-240)aAg>aGg	p.K80R	ELK1_ENST00000592066.1_Missense_Mutation_p.K26R|ELK1_ENST00000376983.3_Missense_Mutation_p.K80R|ELK1_ENST00000343894.4_Missense_Mutation_p.K80R	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	80					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						GTAGACGAACTTCTGGCCGCT	0.597																																																	0													25	20	21					X																	47498709		2203	4300	6503	SO:0001583	missense	0			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.239A>G	X.37:g.47498709T>C	ENSP00000247161:p.Lys80Arg		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.K80R	ENST00000247161.3	37	c.239	CCDS14283.1	X	.	.	.	.	.	.	.	.	.	.	T	27.0	4.787615	0.90367	.	.	ENSG00000126767	ENST00000247161;ENST00000376983;ENST00000343894	T;T;T	0.19938	2.11;2.11;2.11	5.37	5.37	0.77165	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.33485	1.01	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03619	-1.1019	10	0.33940	T	0.23	.	12.3955	0.55382	0.0:0.0:0.0:1.0	.	80	P19419	ELK1_HUMAN	R	80	ENSP00000247161:K80R;ENSP00000366182:K80R;ENSP00000345585:K80R	ENSP00000247161:K80R	K	-	2	0	ELK1	47383653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.125000	0.71627	1.902000	0.55061	0.486000	0.48141	AAG	ELK1	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000126767		0.597	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	-	0	25	0	T	NM_005229		47498709	-1	tier1	-	no_errors	ENST00000247161	ensembl	human	known	74_37	missense	48.39	16	15	SNP	1.000	C	C	47498709	T	C	47498709	3	2	155	1	0	0	0	0	1	0	0	0	5075	1609	56	4	1063	4	ELK1	23	47498709	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	31955224	47498709	107771851	261	39649											
FAM120C	54954	genome.wustl.edu	37	chrX	54161520	54161520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gaatggtggtggatatttcaCtttctggggcacttgatgag	8	14	14	5	0	2	2	1	2	1	0	2	4	2	3	0	5	0	1	0	5	2	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrX:54161520C>T	ENST00000375180.2	-	7	1416	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	FAM120C_ENST00000328235.4_Missense_Mutation_p.V454M	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	454							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGATATTTCACTTTCTGGGGC	0.448																																																	0													79	74	76					X																	54161520		2203	4300	6503	SO:0001583	missense	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1360G>A	X.37:g.54161520C>T	ENSP00000364324:p.Val454Met		B2RMT7	Missense_Mutation	SNP	NULL	p.V454M	ENST00000375180.2	37	c.1360	CCDS14356.1	X	.	.	.	.	.	.	.	.	.	.	C	5.638	0.302429	0.10678	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.42131	0.98;0.98	5.2	4.05	0.47172	.	0.382779	0.33834	N	0.004506	T	0.21761	0.0524	N	0.08118	0	0.80722	D	1	B;B	0.19583	0.037;0.001	B;B	0.12837	0.008;0.005	T	0.04065	-1.0980	10	0.45353	T	0.12	-5.7256	8.1874	0.31348	0.0:0.1014:0.0:0.8986	.	454;454	F8W881;Q9NX05	.;F120C_HUMAN	M	454	ENSP00000364324:V454M;ENSP00000329896:V454M	ENSP00000329896:V454M	V	-	1	0	FAM120C	54178245	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.074000	0.30703	0.865000	0.35603	-0.340000	0.08031	GTG	FAM120C	-	NULL	ENSG00000184083		0.448	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	-	0	41	0	C	NM_017848		54161520	-1	tier1	-	no_errors	ENST00000375180	ensembl	human	known	74_37	missense	47.22	19	17	SNP	1.000	T	T	54161520	C	T	54161520	3	4	155	1	0	0	0	0	1	0	0	0	5437	565	20	3	1970	3	FAM120C	23	54161520	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	6662811	54161520	101109040	262	39650											
HEPH	9843	genome.wustl.edu	37	chrX	65415044	65415044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggtcttttatgagaaaGactatgaaggcactgtgtac	12	12	12	5	0	1	3	0	2	1	2	1	4	1	3	0	3	1	2	0	3	5	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrX:65415044G>T	ENST00000343002.2	+	8	2138	c.1474G>T	c.(1474-1476)Gac>Tac	p.D492Y	HEPH_ENST00000441993.2_Missense_Mutation_p.D495Y|HEPH_ENST00000419594.1_Missense_Mutation_p.D495Y|HEPH_ENST00000374727.3_Missense_Mutation_p.D495Y|HEPH_ENST00000336279.5_Missense_Mutation_p.D225Y|HEPH_ENST00000519389.1_Missense_Mutation_p.D546Y			Q9BQS7	HEPH_HUMAN	hephaestin	492	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTATGAGAAAGACTATGAAGG	0.493																																																	0													48	39	42					X																	65415044		2203	4300	6503	SO:0001583	missense	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1474G>T	X.37:g.65415044G>T	ENSP00000343939:p.Asp492Tyr		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.D546Y	ENST00000343002.2	37	c.1636		X	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959605	0.53400	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22	5.46	3.67	0.42095	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.850231	0.10682	N	0.646245	D	0.97983	0.9336	L	0.43152	1.355	0.22226	N	0.999276	P;P;P	0.48764	0.915;0.679;0.752	P;B;P	0.54590	0.756;0.365;0.673	D	0.93360	0.6726	10	0.59425	D	0.04	.	10.3831	0.44123	0.1403:0.0:0.8597:0.0	.	546;495;492	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	Y	546;495;225;495;495;492;492	ENSP00000430620:D546Y;ENSP00000363859:D495Y;ENSP00000337418:D225Y;ENSP00000411687:D495Y;ENSP00000413211:D495Y;ENSP00000343939:D492Y;ENSP00000398078:D492Y	ENSP00000337418:D225Y	D	+	1	0	HEPH	65331769	1.000000	0.71417	0.756000	0.31282	0.894000	0.52154	2.622000	0.46427	0.494000	0.27859	0.529000	0.55759	GAC	HEPH	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000089472		0.493	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1		0	29	0	G	NM_138737		65415044	1			no_errors	ENST00000519389	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.629	T	T	65415044	G	T	65415044	3	4	155	1	0	0	0	0	1	0	0	0	7081	942	33	3	1670	3	HEPH	23	65415044	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	11253524	65415044	89855516	263	39651											
AR	367	genome.wustl.edu	37	chrX	66905924	66905924	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgaaggaaaaattgtccatCttgtcgtcttcggaaatgtt	11	13	9	8	3	2	0	0	0	2	0	5	3	3	2	2	2	0	1	2	2	4	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrX:66905924C>G	ENST00000374690.3	+	3	2365	c.1841C>G	c.(1840-1842)tCt>tGt	p.S614C	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.S614C|AR_ENST00000396043.2_Missense_Mutation_p.S82C|AR_ENST00000396044.3_Missense_Mutation_p.S614C	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	613	Interaction with HIPK3. {ECO:0000250}.|Interaction with LPXN.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AATTGTCCATCTTGTCGTCTT	0.438									Androgen Insensitivity Syndrome																																								0													130	111	117					X																	66905924		2203	4300	6503	SO:0001583	missense	0	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.1841C>G	X.37:g.66905924C>G	ENSP00000363822:p.Ser614Cys		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.S614C	ENST00000374690.3	37	c.1841	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453745	0.84209	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.42	5.42	0.78866	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.98251	0.9421	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;1.0;0.986	D	0.99120	1.0849	10	0.87932	D	0	.	15.3078	0.74008	0.0:1.0:0.0:0.0	.	614;614;82;613	E7EVX6;D3YPQ2;F1D8N5;P10275	.;.;.;ANDR_HUMAN	C	424;614;614;614;82	ENSP00000363822:S614C;ENSP00000421155:S614C;ENSP00000379359:S614C;ENSP00000379358:S82C	ENSP00000363822:S614C	S	+	2	0	AR	66822649	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	7.193000	0.77780	2.499000	0.84300	0.594000	0.82650	TCT	AR	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000169083		0.438	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	-	0	96	0	C	NM_000044		66905924	1	tier1	-	no_errors	ENST00000374690	ensembl	human	known	74_37	missense	58.21	27	39	SNP	1.000	G	G	66905924	C	G	66905924	3	3	155	1	0	0	0	0	1	0	0	0	836	913	32	5	1875	5	AR	23	66905924	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	1490880	66905924	88364636	264	39652											
AWAT1	158833	genome.wustl.edu	37	chrX	69455948	69455948	+	Missense_Mutation	SNP	T	T	G	0	1	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	gttcggcctgggtaaggaacTggtgtgtctggacccacatc	7	10	14	10	1	1	0	0	0	1	0	3	2	1	2	2	5	1	2	2	5	2	2			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrX:69455948T>G	ENST00000374521.3	+	3	255	c.214T>G	c.(214-216)Tgg>Ggg	p.W72G	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	72					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GGTAAGGAACTGGTGTGTCTG	0.507																																																	0													165	137	147					X																	69455948		2203	4300	6503	SO:0001583	missense	0			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.214T>G	X.37:g.69455948T>G	ENSP00000363645:p.Trp72Gly		Q5JT21|Q6IEE4	Missense_Mutation	SNP	pfam_DAGAT	p.W72G	ENST00000374521.3	37	c.214	CCDS35321.1	X	.	.	.	.	.	.	.	.	.	.	t	15.88	2.963925	0.53507	.	.	ENSG00000204195	ENST00000374521	T	0.14144	2.53	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000004	T	0.40094	0.1103	M	0.85630	2.765	0.48511	D	0.999664	D	0.89917	1.0	D	0.91635	0.999	T	0.36286	-0.9754	10	0.56958	D	0.05	-7.1385	11.487	0.50358	0.0:0.0:0.0:1.0	.	72	Q58HT5	AWAT1_HUMAN	G	72	ENSP00000363645:W72G	ENSP00000363645:W72G	W	+	1	0	AWAT1	69372673	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.144000	0.77357	1.942000	0.56320	0.478000	0.44815	TGG	AWAT1	-	pfam_DAGAT	ENSG00000204195		0.507	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	-	0	60	0	T	NM_001013579		69455948	1	tier1	-	no_errors	ENST00000374521	ensembl	human	known	74_37	missense	62.50	24	40	SNP	1.000	G	G	69455948	T	G	69455948	3	3	155	1	0	0	0	0	1	0	0	0	1235	1580	55	4	224	4	AWAT1	23	69455948	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	2550024	69455948	85814612	265	39653											
IL2RG	3561	genome.wustl.edu	37	chrX	70330007	70330007	+	Splice_Site	SNP	G	G	T	0	0	1	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	cacgtccctagtcactcacaGtccagctgtggtcccagtca	8	9	8	16	1	3	0	3	0	0	0	6	0	6	0	3	1	1	1	3	1	1	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrX:70330007G>T	ENST00000374202.2	-	4	684	c.593C>A	c.(592-594)aCt>aAt	p.T198N	IL2RG_ENST00000374188.3_5'Flank|IL2RG_ENST00000456850.2_Intron	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	198	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GTCACTCACAGTCCAGCTGTG	0.483									Severe Combined Immunodeficiency, X-linked																																								0													170	121	137					X																	70330007		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Agammaglobulinemia, Swiss Type	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6010	protein-coding gene	gene with protein product		308380	"severe combined immunodeficiency", "combined immunodeficiency, X-linked"	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.594+1C>A	X.37:g.70330007G>T			Q5FC12	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.T198N	ENST00000374202.2	37	c.593	CCDS14406.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.16|19.16	3.773924|3.773924	0.69992|0.69992	.|.	.|.	ENSG00000147168|ENSG00000147168	ENST00000482750|ENST00000374202;ENST00000464642	.|T;T	.|0.55930	.|0.49;0.49	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.358364	.|0.29253	.|N	.|0.012688	T|T	0.68035|0.68035	0.2957|0.2957	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D	.|0.63880	.|0.993	.|D	.|0.70935	.|0.971	T|T	0.65030|0.65030	-0.6267|-0.6267	5|10	.|0.24483	.|T	.|0.36	-0.1429|-0.1429	14.6823|14.6823	0.69026|0.69026	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|198	.|P31785	.|IL2RG_HUMAN	E|N	2|198;154	.|ENSP00000363318:T198N;ENSP00000425233:T154N	.|ENSP00000363318:T198N	D|T	-|-	3|2	2|0	IL2RG|IL2RG	70246732|70246732	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.822000|2.822000	0.48073|0.48073	2.102000|2.102000	0.63906|0.63906	0.600000|0.600000	0.82982|0.82982	GAC|ACT	IL2RG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000147168		0.483	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RG	HGNC	protein_coding	OTTHUMT00000057102.2	-	0	52	0	G		Missense_Mutation	70330007	-1	tier1	-	no_errors	ENST00000374202	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	70330007	G	T	70330007	5	4	155	1	0	0	0	0	0	0	1	0	7715	1043	36	3	536	3	IL2RG	23	70330007	Splice_Site	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	874059	70330007	84940553	266	39654											
DCX	1641	genome.wustl.edu	37	chrX	110653400	110653400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcgtcaaagctgcgaaaaCggtcagaggacacagcgtac	14	4	13	10	4	2	1	2	0	0	1	2	3	2	2	0	3	5	2	0	3	4	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrX:110653400C>T	ENST00000338081.3	-	2	641	c.470G>A	c.(469-471)cGt>cAt	p.R157H	DCX_ENST00000356915.2_Missense_Mutation_p.R76H|DCX_ENST00000488120.1_Missense_Mutation_p.R76H|DCX_ENST00000356220.3_Missense_Mutation_p.R76H|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.R76H	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	157	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GCTGCGAAAACGGTCAGAGGA	0.512																																																	0													277	199	225					X																	110653400		2203	4300	6503	SO:0001583	missense	0			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.470G>A	X.37:g.110653400C>T	ENSP00000337697:p.Arg157His		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	p.R157H	ENST00000338081.3	37	c.470	CCDS14556.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.376587|5.376587	0.95945|0.95945	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911|ENST00000358070	D;D;D;D;D;D|.	0.92805|.	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Doublecortin domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84406|0.84406	0.5465|0.5465	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D;P|.	0.76494|.	0.999;0.939|.	D;P|.	0.74674|.	0.984;0.727|.	D|D	0.86708|0.86708	0.1934|0.1934	10|5	0.66056|.	D|.	0.02|.	.|.	18.4403|18.4403	0.90664|0.90664	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	145;157|.	B4DM53;O43602|.	.;DCX_HUMAN|.	H|I	76;76;157;76;76;76|149	ENSP00000349385:R76H;ENSP00000361061:R76H;ENSP00000337697:R157H;ENSP00000348553:R76H;ENSP00000419861:R76H;ENSP00000418811:R76H|.	ENSP00000337697:R157H|.	R|V	-|-	2|1	0|0	DCX|DCX	110540056|110540056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.651000|7.651000	0.83577|0.83577	2.551000|2.551000	0.86045|0.86045	0.600000|0.600000	0.82982|0.82982	CGT|GTT	DCX	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	ENSG00000077279		0.512	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	HGNC	protein_coding	OTTHUMT00000357058.1	-	0	55	0	C	NM_178153		110653400	-1	tier1	-	no_errors	ENST00000338081	ensembl	human	known	74_37	missense	55.26	17	21	SNP	1.000	T	T	110653400	C	T	110653400	3	4	155	1	0	0	0	0	1	0	0	0	4327	536	19	1	894	1	DCX	23	110653400	Missense_Mutation	SNP	C	TCGA-V5-A7RB-01A-11D-A351-09	40323393	110653400	44617160	267	39655											
SPANXC	64663	genome.wustl.edu	37	chrX	140335763	140335763	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagttcctctggagatgttcTtttcacgttcctcctgtagc	5	16	8	12	1	3	1	1	0	2	1	6	2	6	1	3	1	1	4	3	1	1	6			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrX:140335763T>C	ENST00000358993.2	-	2	219	c.181A>G	c.(181-183)Aga>Gga	p.R61G		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	61						cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					GGAGATGTTCTTTTCACGTTC	0.483																																																	0													236	174	195					X																	140335763		2141	4142	6283	SO:0001583	missense	0			AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 3"	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.181A>G	X.37:g.140335763T>C	ENSP00000351884:p.Arg61Gly		Q32WL9|Q5JX88	Missense_Mutation	SNP	pfam_SPANX_prot	p.R61G	ENST00000358993.2	37	c.181	CCDS14673.1	X	.	.	.	.	.	.	.	.	.	.	t	8.201	0.798268	0.16397	.	.	ENSG00000198573	ENST00000358993	T	0.07800	3.16	.	.	.	.	.	.	.	.	T	0.11452	0.0279	L	0.60455	1.87	0.09310	N	1	D	0.54207	0.965	P	0.46885	0.53	T	0.17715	-1.0360	7	0.72032	D	0.01	.	.	.	.	.	61	Q9NY87	SPNXC_HUMAN	G	61	ENSP00000351884:R61G	ENSP00000351884:R61G	R	-	1	2	SPANXC	140163429	0.027000	0.19231	0.014000	0.15608	0.013000	0.08279	0.065000	0.14466	0.276000	0.22118	0.270000	0.19313	AGA	SPANXC	-	pfam_SPANX_prot	ENSG00000198573		0.483	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXC	HGNC	protein_coding	OTTHUMT00000058590.1	-	0	174	0	T	NM_022661		140335763	-1	tier1	-	no_errors	ENST00000358993	ensembl	human	known	74_37	missense	63.49	46	80	SNP	0.014	C	C	140335763	T	C	140335763	3	2	155	1	0	0	0	0	1	0	0	0	15034	1617	56	4	116	4	SPANXC	23	140335763	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	29682363	140335763	14934797	268	39656											
ZNF185	7739	genome.wustl.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-																															gctctacatcaggggacaccGaggaggaggaggaggaggag																										TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					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)					AGGGGACACCgaggaggaggagg	0.596																																																	0									,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7	0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	0			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.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	smart_Znf_LIM,pfscan_Znf_LIM	p.E162in_frame_del	ENST00000370268.4	37	c.475_477	CCDS48184.1	X																																																																																			ZNF185	-	NULL	ENSG00000147394		0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1		0	25	0	GAG	NM_007150		152087572	1	tier1		no_errors	ENST00000370270	ensembl	human	known	74_37	in_frame_del	16.67	20	4	DEL	0.026:0.052:0.078	-	-	152087572	GAG	-	152087570	7	5	155	1	0	1	0	1	0	0	0	0	17800	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-V5-A7RB-01A-11D-A351-09	11751807	152087570	3182990	269	39657											
ATP2B3	492	genome.wustl.edu	37	chrX	152845533	152845533	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcatggccacgcccgagtTtctgatcaatgactacaccc	9	10	7	15	2	3	2	2	2	1	0	3	3	3	2	3	1	1	1	3	1	2	3			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrX:152845533T>G	ENST00000349466.2	+	21	3766	c.3440T>G	c.(3439-3441)tTt>tGt	p.F1147C	ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000263519.4_Missense_Mutation_p.F1147C|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000370181.2_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1147					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)					ACGCCCGAGTTTCTGATCAAT	0.597																																																	0													173	153	160					X																	152845533		2203	4300	6503	SO:0001583	missense	0			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.3440T>G	X.37:g.152845533T>G	ENSP00000343886:p.Phe1147Cys		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.F1147C	ENST00000349466.2	37	c.3440	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	t	21.8	4.205087	0.79127	.	.	ENSG00000067842	ENST00000349466;ENST00000263519	T;T	0.78707	-1.2;-1.2	5.02	5.02	0.67125	.	0.067516	0.64402	D	0.000014	D	0.87752	0.6256	M	0.83384	2.64	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72625	0.978;0.971	D	0.88960	0.3393	10	0.59425	D	0.04	-13.5646	12.7904	0.57530	0.0:0.0:0.0:1.0	.	1133;1147	Q16720-4;Q16720	.;AT2B3_HUMAN	C	1147	ENSP00000343886:F1147C;ENSP00000263519:F1147C	ENSP00000263519:F1147C	F	+	2	0	ATP2B3	152498727	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.948000	0.70249	1.658000	0.50742	0.427000	0.28365	TTT	ATP2B3	-	pfam_ATP_Ca_trans_C	ENSG00000067842		0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	-	0	46	0	T	NM_021949		152845533	1	tier1	-	no_errors	ENST00000263519	ensembl	human	known	74_37	missense	75.00	7	21	SNP	1.000	G	G	152845533	T	G	152845533	3	3	155	1	0	0	0	0	1	0	0	0	1142	1841	64	4	3676	4	ATP2B3	23	152845533	Missense_Mutation	SNP	T	TCGA-V5-A7RB-01A-11D-A351-09	757963	152845533	2425027	270	39658											
FAM50A	9130	genome.wustl.edu	37	chrX	153677073	153677073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcgggaagagctgcggcaGgagtgggaagccaagcagga	11	4	18	8	2	0	1	0	0	0	1	1	5	0	5	1	5	4	3	1	5	3	1			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrX:153677073G>C	ENST00000393600.3	+	6	665	c.555G>C	c.(553-555)caG>caC	p.Q185H		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	185					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCTGCGGCAGGAGTGGGAAG	0.642																																																	0													61	66	64					X																	153677073		2203	4300	6503	SO:0001583	missense	0			BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"DNA segment on chromosome X (unique) 9928 expressed sequence"	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.555G>C	X.37:g.153677073G>C	ENSP00000377225:p.Gln185His		A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	pfam_XAP5	p.Q185H	ENST00000393600.3	37	c.555	CCDS14751.1	X	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934927	0.73442	.	.	ENSG00000071859	ENST00000393600;ENST00000158526	.	.	.	5.32	1.39	0.22231	.	0.054736	0.85682	D	0.000000	T	0.71143	0.3305	M	0.86502	2.82	0.49915	D	0.999836	D	0.60160	0.987	P	0.62298	0.9	T	0.68957	-0.5272	9	0.72032	D	0.01	-47.9025	5.9384	0.19179	0.2349:0.0:0.6321:0.1329	.	185	Q14320	FA50A_HUMAN	H	185;145	.	ENSP00000158526:Q145H	Q	+	3	2	FAM50A	153330267	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.460000	0.53028	0.106000	0.17784	0.600000	0.82982	CAG	FAM50A	-	pfam_XAP5	ENSG00000071859		0.642	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM50A	HGNC	protein_coding	OTTHUMT00000081643.2	-	0	40	0	G	NM_004699		153677073	1	tier1	-	no_errors	ENST00000393600	ensembl	human	known	74_37	missense	61.29	12	19	SNP	1.000	C	C	153677073	G	C	153677073	3	2	155	1	0	0	0	0	1	0	0	0	5599	991	35	5	577	5	FAM50A	23	153677073	Missense_Mutation	SNP	G	TCGA-V5-A7RB-01A-11D-A351-09	831540	153677073	1593487	271	39659											
UTY	7404	genome.wustl.edu	37	chrY	15448174	15448174	+	Missense_Mutation	SNP	A	A	C	1	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	gaaaacagaggttgttcttcAttaggtcctgacaaacatga	14	11	9	7	0	2	3	1	2	1	1	3	4	3	3	1	2	2	2	1	2	4	4			TCGA-V5-A7RB-01A-11D-A351-09	TCGA-V5-A7RB-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	238ca1a1-3689-4105-838e-7c62d355d0fc	20e06ef0-ace9-4a23-bb45-3a7b8166690e	g.chrY:15448174A>C	ENST00000331397.4	-	16	2819	c.1812T>G	c.(1810-1812)aaT>aaG	p.N604K	UTY_ENST00000537580.1_Missense_Mutation_p.N525K|UTY_ENST00000329134.5_Missense_Mutation_p.N604K|UTY_ENST00000545955.1_Missense_Mutation_p.N679K|UTY_ENST00000382896.4_Missense_Mutation_p.N649K|UTY_ENST00000538878.1_Missense_Mutation_p.N571K|UTY_ENST00000540140.1_Missense_Mutation_p.N601K|UTY_ENST00000362096.4_Missense_Mutation_p.N604K	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	604					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						GTTGTTCTTCATTAGGTCCTG	0.383																																					Colon(103;1740 2135 40732 45171)												0													56	51	52					Y																	15448174		593	1932	2525	SO:0001583	missense	0			AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"Tetratricopeptide (TTC) repeat domain containing"	12638	protein-coding gene	gene with protein product		400009	"ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome", "ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.1812T>G	Y.37:g.15448174A>C	ENSP00000328939:p.Asn604Lys		A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N649K	ENST00000331397.4	37	c.1947	CCDS14783.1	Y																																																																																			UTY	-	NULL	ENSG00000183878		0.383	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UTY	HGNC	protein_coding	OTTHUMT00000088394.1	-	0	65	0	A	NM_182660		15448174	-1	tier1	-	no_errors	ENST00000382896	ensembl	human	known	74_37	missense	31.58	39	18	SNP	1.000	C	C	15448174	A	C	15448174	3	2	155	1	0	0	0	0	1	0	0	0	17156	214	8	4	2546	4	UTY	24	15448174	Missense_Mutation	SNP	A	TCGA-V5-A7RB-01A-11D-A351-09		15448174	43925392	272	39660											
TNFRSF9	3604	genome.wustl.edu	37	chr1	7980985	7980986	+	Splice_Site	INS	-	-	A																															gtactggtctcataaatgctINSaaaaaaaaaattttaagata																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:7980985_7980986insA	ENST00000377507.3	-	8	846		c.e8-2			NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9						apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCATAAATGCTAAAAAAAAAAT	0.342																																																	0										6,4258		0,6,2126						6.2	1			83	12,8238		0,12,4113	no	splice-3	TNFRSF9	NM_001561.5		0,18,6239	A1A1,A1R,RR		0.1455,0.1407,0.1438				18,12496				SO:0001630	splice_region_variant	0			L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"Tumor necrosis factor receptor superfamily", "CD molecules"	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.680-2->T	1.37:g.7980995_7980995dupA				Splice_Site	INS	-	e7-2	ENST00000377507.3	37	c.680-3_680-2	CCDS92.1	1																																																																																			TNFRSF9	-	-	ENSG00000049249		0.342	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF9	HGNC	protein_coding	OTTHUMT00000003622.1		0	35	0	-		Intron	7980986	-1	tier1		no_errors	ENST00000377507	ensembl	human	known	74_37	splice_site_ins	10.71	25	3	INS	0.994:0.001	A	A	7980986	-	A	7980985	8	5	156	1	0	1	1	0	0	0	1	0	16347	1536	53	0	93	0	TNFRSF9	1	7980985	Splice_Site	INS	-	TCGA-V5-A7RC-01B-11D-A403-09		7980985	241269636	1	39661											
PTCHD2	57540	genome.wustl.edu	37	chr1	11580898	11580898	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcatctcctgcatcacCtgttcaggtgaggcttctag	7	11	12	11	0	4	1	2	1	2	0	5	2	4	1	2	3	1	4	2	3	1	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:11580898C>A	ENST00000294484.6	+	10	2493	c.2355C>A	c.(2353-2355)acC>acA	p.T785T	PTCHD2_ENST00000389575.3_Silent_p.T785T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	785					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)		CCTGCATCACCTGTTCAGGTG	0.627																																																	0													20	22	22					1																	11580898		1950	4150	6100	SO:0001819	synonymous_variant	0			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.2355C>A	1.37:g.11580898C>A			Q5VTU9|Q9UJD6	Silent	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.T785	ENST00000294484.6	37	c.2355	CCDS41247.1	1																																																																																			PTCHD2	-	NULL	ENSG00000204624		0.627	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	-	0	48	0	C	XM_052561		11580898	1	tier1	-	no_errors	ENST00000294484	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	A	A	11580898	C	A	11580898	2	1	156	1	0	0	0	0	0	0	0	1	12775	668	24	3		3	PTCHD2	1	11580898	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	3599913	11580898	237669723	2	39662											
HDAC1	3065	genome.wustl.edu	37	chr1	32768245	32768245	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttggaaattactattatGgacaaggccacccaatgaag	15	10	9	7	0	0	1	0	1	0	0	0	3	0	3	2	3	1	1	2	3	7	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:32768245G>T	ENST00000373548.3	+	2	157	c.73G>T	c.(73-75)Gga>Tga	p.G25*	HDAC1_ENST00000373541.2_5'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	25	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|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)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|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)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|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)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|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)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TTACTATTATGGACAAGGCCA	0.438																																																	0													123	108	113					1																	32768245		2203	4300	6503	SO:0001587	stop_gained	0			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.73G>T	1.37:g.32768245G>T	ENSP00000362649:p.Gly25*		Q92534	Nonsense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.G25*	ENST00000373548.3	37	c.73	CCDS360.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.170177	0.97343	.	.	ENSG00000116478	ENST00000373548;ENST00000428704	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.8068	19.275	0.94027	0.0:0.0:1.0:0.0	.	.	.	.	X	25	.	ENSP00000362649:G25X	G	+	1	0	HDAC1	32540832	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.140000	0.94607	2.738000	0.93877	0.650000	0.86243	GGA	HDAC1	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1	ENSG00000116478		0.438	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC1	HGNC	protein_coding	OTTHUMT00000019815.3	-	0	45	0	G	NM_004964		32768245	1	tier1	-	no_errors	ENST00000373548	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T	T	32768245	G	T	32768245	4	4	156	1	0	0	0	0	0	1	0	0	7031	1349	47	3	79	3	HDAC1	1	32768245	Nonsense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	21187347	32768245	216482376	3	39663											
SYNC	81493	genome.wustl.edu	37	chr1	33149975	33149975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgttcttccatttcctcCagctgttcctgcatgagatg	5	15	9	12	1	1	1	0	1	1	1	5	2	5	1	4	1	2	4	4	1	0	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:33149975C>T	ENST00000409190.3	-	3	1700	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000373484.3_Silent_p.L414L	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	414	Coil 2.				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						CCATTTCCTCCAGCTGTTCCT	0.418																																																	0													145	130	135					1																	33149975		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1242G>A	1.37:g.33149975C>T			B4DNK8|B4DY58|C9IY41	Silent	SNP	pfam_IF	p.L414	ENST00000409190.3	37	c.1242	CCDS367.2	1																																																																																			SYNC	-	pfam_IF	ENSG00000162520		0.418	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNC	HGNC	protein_coding	OTTHUMT00000022129.3	-	0	11	0	C	NM_030786		33149975	-1	tier1	-	no_errors	ENST00000409190	ensembl	human	known	74_37	silent	35.71	9	5	SNP	1.000	T	T	33149975	C	T	33149975	2	4	156	1	0	0	0	0	0	0	0	1	15490	581	21	3		3	SYNC	1	33149975	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	381730	33149975	216100646	4	39664											
MANEAL	149175	genome.wustl.edu	37	chr1	38261479	38261479	+	Silent	SNP	G	G	A	0	0	1	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	gagccctcagatgacctggtGcccgccattctggacaccgc	7	7	11	16	2	2	2	1	1	1	1	2	4	2	3	5	2	2	0	5	2	0	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:38261479G>A	ENST00000373045.6	+	2	1002	c.621G>A	c.(619-621)gtG>gtA	p.V207V	MANEAL_ENST00000397631.3_Silent_p.V207V|MANEAL_ENST00000525897.1_Silent_p.V13V|MANEAL_ENST00000329006.5_Missense_Mutation_p.C11Y	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	207						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATGACCTGGTGCCCGCCATTC	0.597																																																	0													102	95	98					1																	38261479		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.621G>A	1.37:g.38261479G>A			Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	NULL	p.C11Y	ENST00000373045.6	37	c.32	CCDS44110.1	1	.	.	.	.	.	.	.	.	.	.	G	8.485	0.860658	0.17178	.	.	ENSG00000185090	ENST00000329006	.	.	.	5.84	-4.35	0.03656	.	.	.	.	.	T	0.10766	0.0263	.	.	.	0.21861	N	0.999509	B	0.02656	0.0	B	0.01281	0.0	T	0.34551	-0.9824	7	0.02654	T	1	-19.0616	4.2252	0.10577	0.5181:0.0988:0.2832:0.0999	.	11	Q5VSG8-2	.	Y	11	.	ENSP00000328770:C11Y	C	+	2	0	MANEAL	38034066	0.876000	0.30132	0.983000	0.44433	0.962000	0.63368	-0.062000	0.11674	-0.411000	0.07530	-0.794000	0.03295	TGC	MANEAL	-	NULL	ENSG00000185090		0.597	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEAL	HGNC	protein_coding	OTTHUMT00000012469.2		0	66	0	G	NM_152496		38261479	1			no_errors	ENST00000329006	ensembl	human	known	74_37	missense	6.74	77	6	SNP	0.337	A	A	38261479	G	A	38261479	2	1	156	1	0	0	0	0	0	0	0	1	9260	1319	46	3		3	MANEAL	1	38261479	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	5111504	38261479	210989142	5	39665											
PPT1	5538	genome.wustl.edu	37	chr1	40544257	40544257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatctacagggtccacaatgGaatcattgaggaatttcacc	14	10	8	9	0	3	1	2	1	1	0	4	3	4	3	2	3	1	0	2	3	5	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:40544257G>C	ENST00000433473.3	-	7	1165	c.701C>G	c.(700-702)tCc>tGc	p.S234C	PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000530076.1_Missense_Mutation_p.S15C|PPT1_ENST00000449045.2_Missense_Mutation_p.S131C	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	234					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)			GTCCACAATGGAATCATTGAG	0.483																																																	0													156	152	153					1																	40544257		2203	4300	6503	SO:0001583	missense	0			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.701C>G	1.37:g.40544257G>C	ENSP00000394863:p.Ser234Cys		B4DY24|Q6FGQ4	Missense_Mutation	SNP	pfam_Palm_thioest,prints_Palm_thioest	p.S234C	ENST00000433473.3	37	c.701	CCDS447.1	1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230895	0.39399	.	.	ENSG00000131238	ENST00000433473;ENST00000449045;ENST00000439754;ENST00000530076;ENST00000372779	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.43	3.53	0.40419	.	0.539403	0.22282	N	0.062107	D	0.94493	0.8227	M	0.71036	2.16	0.40537	D	0.980986	D;P;P	0.62365	0.991;0.596;0.844	P;P;B	0.50825	0.651;0.563;0.348	D	0.93645	0.6968	10	0.66056	D	0.02	-14.7237	10.25	0.43364	0.0731:0.1363:0.7905:0.0	.	131;184;234	P50897-2;B4DWU3;P50897	.;.;PPT1_HUMAN	C	234;131;129;15;263	ENSP00000394863:S234C;ENSP00000392293:S131C;ENSP00000403207:S129C;ENSP00000434007:S15C;ENSP00000361865:S263C	ENSP00000361865:S263C	S	-	2	0	PPT1	40316844	1.000000	0.71417	0.859000	0.33776	0.067000	0.16453	4.148000	0.58085	0.832000	0.34804	-0.140000	0.14226	TCC	PPT1	-	pfam_Palm_thioest	ENSG00000131238		0.483	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT1	HGNC	protein_coding	OTTHUMT00000013126.2	-	0	54	0	G	NM_000310		40544257	-1	tier1	-	no_errors	ENST00000433473	ensembl	human	known	74_37	missense	90.53	123	1205	SNP	0.966	C	C	40544257	G	C	40544257	3	2	156	1	0	0	0	0	1	0	0	0	12453	1174	41	5	231	5	PPT1	1	40544257	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	2282778	40544257	208706364	6	39666											
MPL	4352	genome.wustl.edu	37	chr1	43814638	43814638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggtccctggagctcgtggtCggacccaactagggtggaga	8	7	16	10	2	0	1	0	0	0	1	3	4	1	3	2	6	2	1	2	6	2	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:43814638C>G	ENST00000372470.3	+	9	1475	c.1433C>G	c.(1432-1434)tCg>tGg	p.S478W	MPL_ENST00000413998.2_Missense_Mutation_p.S478W	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	478	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)	AGCTCGTGGTCGGACCCAACT	0.711			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													11	13	12					1																	43814638		2163	4236	6399	SO:0001583	missense	0			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.1433C>G	1.37:g.43814638C>G	ENSP00000361548:p.Ser478Trp		Q5JUZ0	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S478W	ENST00000372470.3	37	c.1433	CCDS483.1	1	.	.	.	.	.	.	.	.	.	.	c	17.85	3.491136	0.64074	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	D;D	0.95821	-3.82;-3.82	4.43	4.43	0.53597	Fibronectin, type III (2);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.499201	0.19058	N	0.123849	D	0.97701	0.9246	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.948;0.998;0.999	D	0.98406	1.0570	10	0.87932	D	0	-12.9354	14.2655	0.66116	0.0:1.0:0.0:0.0	.	471;478;478	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	W	478	ENSP00000361548:S478W;ENSP00000414004:S478W	ENSP00000361546:S478W	S	+	2	0	MPL	43587225	0.993000	0.37304	0.894000	0.35097	0.327000	0.28475	3.968000	0.56809	2.008000	0.58898	0.444000	0.29173	TCG	MPL	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000117400		0.711	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPL	HGNC	protein_coding	OTTHUMT00000019522.1	-	0	41	0	C	NM_005373		43814638	1	tier1	-	no_errors	ENST00000372470	ensembl	human	known	74_37	missense	8.16	43	4	SNP	0.977	G	G	43814638	C	G	43814638	3	3	156	1	0	0	0	0	1	0	0	0	9768	893	31	5	1467	5	MPL	1	43814638	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	3270381	43814638	205435983	7	39667											
RNF220	55182	genome.wustl.edu	37	chr1	45115560	45115560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccctcctccctaggactcGtactcgatgcccctaacgtc	6	9	6	20	3	0	0	0	0	0	0	5	2	2	1	6	1	3	1	6	1	3	3	rs561320190	byFrequency	TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:45115560G>A	ENST00000355387.2	+	14	2010	c.1560G>A	c.(1558-1560)tcG>tcA	p.S520S	TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000361799.2_Silent_p.S520S|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000372247.2_Silent_p.S520S|RNF220_ENST00000443020.2_Silent_p.S307S			Q5VTB9	RN220_HUMAN	ring finger protein 220	520	Required for targeting to the cytoplasm. {ECO:0000250}.				protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCTAGGACTCGTACTCGATGC	0.652													G|||	2	0.000399361	8e-04	0	5008	,	,		17377	0		0	False		,,,				2504	0.001																0													104	83	90					1																	45115560		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1560G>A	1.37:g.45115560G>A			B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.S520	ENST00000355387.2	37	c.1560	CCDS510.1	1																																																																																			RNF220	-	pfscan_Znf_RING	ENSG00000187147		0.652	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	-	0	46	0	G	NM_018150		45115560	1	tier1	-	no_errors	ENST00000355387	ensembl	human	known	74_37	silent	40.00	38	26	SNP	0.135	A	A	45115560	G	A	45115560	2	1	156	1	0	0	0	0	0	0	0	1	13528	1132	40	1		1	RNF220	1	45115560	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	1300922	45115560	204135061	8	39668											
SYDE2	84144	genome.wustl.edu	37	chr1	85648545	85648546	+	Frame_Shift_Ins	INS	-	-	A																															gaggatacactggtatcaagINSatggtatcggcttataacat																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:85648545_85648546insA	ENST00000341460.5	-	3	1828_1829	c.1779_1780insT	c.(1777-1782)catcttfs	p.L594fs		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	594					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)		CTGGTATCAAGATGGTATCGGC	0.436																																																	0																																										SO:0001589	frameshift_variant	0			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.1780dupT	1.37:g.85648546_85648546dupA	ENSP00000340594:p.Leu594fs		Q5VT96|Q8NDB8|Q9H8A6	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L593fs	ENST00000341460.5	37	c.1780_1779	CCDS44169.1	1																																																																																			SYDE2	-	NULL	ENSG00000097096		0.436	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2		0	56	0	-			85648546	-1	tier1		no_errors	ENST00000341460	ensembl	human	known	74_37	frame_shift_ins	20.83	38	10	INS	1.000:0.999	A	A	85648546	-	A	85648545	7	5	156	1	0	1	1	0	0	0	0	0	15483	942	33	0	1824	0	SYDE2	1	85648545	Frame_Shift_Ins	INS	-	TCGA-V5-A7RC-01B-11D-A403-09	40532985	85648545	163602076	9	39669											
AGL	178	genome.wustl.edu	37	chr1	100340249	100340249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctttcttttagaaaataGgcgagtaaccaagtctgatc	12	15	7	7	1	3	2	0	1	3	1	4	3	3	2	1	1	1	1	1	1	6	6			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:100340249G>T	ENST00000294724.4	+	8	1443	c.965G>T	c.(964-966)aGg>aTg	p.R322M	AGL_ENST00000370161.2_Missense_Mutation_p.R306M|AGL_ENST00000361915.3_Missense_Mutation_p.R322M|AGL_ENST00000361522.4_Missense_Mutation_p.R305M|AGL_ENST00000477753.1_3'UTR|AGL_ENST00000361302.3_Missense_Mutation_p.R306M|AGL_ENST00000370165.3_Missense_Mutation_p.R322M|AGL_ENST00000370163.3_Missense_Mutation_p.R322M	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	322					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)		TTAGAAAATAGGCGAGTAACC	0.333																																																	0													82	73	76					1																	100340249		2203	4300	6503	SO:0001583	missense	0			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.965G>T	1.37:g.100340249G>T	ENSP00000294724:p.Arg322Met		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.R322M	ENST00000294724.4	37	c.965	CCDS759.1	1	.	.	.	.	.	.	.	.	.	.	G	9.082	0.999505	0.19121	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.04	4.12	0.48240	Glycoside hydrolase, superfamily (1);	0.227401	0.45126	D	0.000390	T	0.64713	0.2623	L	0.47716	1.5	0.29746	N	0.836695	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.006;0.002	T	0.55166	-0.8183	10	0.30078	T	0.28	.	7.9666	0.30102	0.0817:0.0:0.7603:0.158	.	305;306;322	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	M	322;322;322;322;306;306;305	ENSP00000355106:R322M;ENSP00000359184:R322M;ENSP00000359182:R322M;ENSP00000294724:R322M;ENSP00000354971:R306M;ENSP00000359180:R306M;ENSP00000354635:R305M	ENSP00000294724:R322M	R	+	2	0	AGL	100112837	0.859000	0.29813	0.580000	0.28601	0.397000	0.30659	1.812000	0.38952	1.254000	0.44035	-0.225000	0.12378	AGG	AGL	-	superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	ENSG00000162688		0.333	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	-	0	61	0	G	NM_000028		100340249	1	tier1	-	no_errors	ENST00000294724	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.764	T	T	100340249	G	T	100340249	3	4	156	1	0	0	0	0	1	0	0	0	384	1000	35	3	1060	3	AGL	1	100340249	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	14691704	100340249	148910372	10	39670											
COL11A1	1301	genome.wustl.edu	37	chr1	103364294	103364294	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaggaccgactgggccGgtttttccaggaggaccttc	6	9	13	13	2	0	1	0	1	0	0	2	5	1	4	5	5	0	1	5	5	0	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:103364294G>T	ENST00000370096.3	-	56	4488	c.4176C>A	c.(4174-4176)acC>acA	p.T1392T	COL11A1_ENST00000353414.4_Silent_p.T1353T|COL11A1_ENST00000512756.1_Silent_p.T1276T|COL11A1_ENST00000358392.2_Silent_p.T1404T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1392	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)		CGACTGGGCCGGTTTTTCCAG	0.468																																																	0													44	46	46					1																	103364294		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4176C>A	1.37:g.103364294G>T			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.T1404	ENST00000370096.3	37	c.4212	CCDS778.1	1																																																																																			COL11A1	-	NULL	ENSG00000060718		0.468	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	229	0	G	NM_080630		103364294	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	silent	9.28	215	22	SNP	0.985	T	T	103364294	G	T	103364294	2	4	156	1	0	0	0	0	0	0	0	1	3674	1103	39	2		2	COL11A1	1	103364294	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	3024045	103364294	145886327	11	39671											
SPAG17	200162	genome.wustl.edu	37	chr1	118579442	118579443	+	Frame_Shift_Ins	INS	-	-	T																															ttatcgagaggcagattccaINSttttctaaggtggcagaaaa																								rs569495336		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:118579442_118579443insT	ENST00000336338.5	-	24	3448_3449	c.3383_3384insA	c.(3382-3384)aatfs	p.N1128fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1128						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)		GGCAGATTCCATTTTCTAAGGT	0.391																																																	0																																										SO:0001589	frameshift_variant	0				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.3384dupA	1.37:g.118579446_118579446dupT	ENSP00000337804:p.Asn1128fs		Q8NAZ1|Q9NT21	Frame_Shift_Ins	INS	NULL	p.N1128fs	ENST00000336338.5	37	c.3384_3383	CCDS899.1	1																																																																																			SPAG17	-	NULL	ENSG00000155761		0.391	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1		0	64	0	-	NM_206996		118579443	-1	tier1		no_errors	ENST00000336338	ensembl	human	known	74_37	frame_shift_ins	18.95	77	18	INS	1.000:1.000	T	T	118579443	-	T	118579442	7	5	156	1	0	1	1	0	0	0	0	0	15026	214	8	0	3387	0	SPAG17	1	118579442	Frame_Shift_Ins	INS	-	TCGA-V5-A7RC-01B-11D-A403-09	15215148	118579442	130671179	12	39672											
OTUD7B	56957	genome.wustl.edu	37	chr1	149931714	149931714	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctgtgtataccagccctGactgtgtgaaggacaggcag	9	10	12	10	0	1	2	0	2	1	0	1	3	1	3	2	2	2	2	2	2	3	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:149931714G>A	ENST00000369135.4	-	7	1028	c.734C>T	c.(733-735)tCa>tTa	p.S245L	OTUD7B_ENST00000479905.1_5'Flank	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	245	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				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)			TACCAGCCCTGACTGTGTGAA	0.483																																																	0													142	135	137					1																	149931714		1949	4155	6104	SO:0001630	splice_region_variant	0			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.733-1C>T	1.37:g.149931714G>A			B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.S245L	ENST00000369135.4	37	c.734	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947987	0.73787	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.23552	1.9;1.9	5.47	5.47	0.80525	Ovarian tumour, otubain (2);	0.064544	0.64402	D	0.000005	T	0.16685	0.0401	N	0.12831	0.26	0.80722	D	1	P	0.52170	0.951	P	0.54100	0.742	T	0.04400	-1.0954	9	.	.	.	-16.9807	18.0517	0.89351	0.0:0.0:1.0:0.0	.	245	Q6GQQ9	OTU7B_HUMAN	L	245	ENSP00000358131:S245L;ENSP00000408231:S245L	.	S	-	2	0	OTUD7B	148198338	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.145000	0.94634	2.844000	0.97970	0.650000	0.86243	TCA	OTUD7B	-	pfam_OTU,pfscan_OTU	ENSG00000163113		0.483	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	-	0	36	0	G	NM_020205	Missense_Mutation	149931714	-1	tier1	-	no_errors	ENST00000369135	ensembl	human	known	74_37	missense	44.90	27	22	SNP	1.000	A	A	149931714	G	A	149931714	5	1	156	1	0	0	0	0	0	0	1	0	11358	1304	45	3	1821	3	OTUD7B	1	149931714	Splice_Site	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	31352272	149931714	99318907	13	39673											
TCHH	7062	genome.wustl.edu	37	chr1	152081490	152081490	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgttgctcgcgctcctgGcagcgcagctgctgttcctc	3	11	12	15	3	0	0	0	0	0	0	4	0	2	0	2	1	5	9	2	1	0	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:152081490G>T	ENST00000368804.1	-	2	4202	c.4203C>A	c.(4201-4203)tgC>tgA	p.C1401*		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1401	23 X 26 AA approximate tandem repeats.			CQ -> LE (in Ref. 1; AAA65582). {ECO:0000305}.	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)			CGCGCTCCTGGCAGCGCAGCT	0.582																																																	0													56	58	58					1																	152081490		1860	4101	5961	SO:0001587	stop_gained	0			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.4203C>A	1.37:g.152081490G>T	ENSP00000357794:p.Cys1401*		Q5VUI3	Nonsense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.C1401*	ENST00000368804.1	37	c.4203	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	g	39	7.326117	0.98214	.	.	ENSG00000159450	ENST00000368804	.	.	.	3.61	-1.26	0.09376	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	3.5388	0.07803	0.1091:0.4476:0.2905:0.1528	.	.	.	.	X	1401	.	ENSP00000357794:C1401X	C	-	3	2	TCHH	150348114	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-0.185000	0.09684	-0.063000	0.13065	0.297000	0.19635	TGC	TCHH	-	NULL	ENSG00000159450		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2		0	34	0	G	NM_007113		152081490	-1			no_errors	ENST00000368804	ensembl	human	known	74_37	nonsense	8.33	33	3	SNP	0.000	T	T	152081490	G	T	152081490	4	4	156	1	0	0	0	0	0	1	0	0	15747	1195	42	3	1632	3	TCHH	1	152081490	Nonsense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	2149776	152081490	97169131	14	39674											
LCE2B	26239	genome.wustl.edu	37	chr1	152659480	152659480	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtggtcccatctctggggGctgctgtggtcccagctctg	2	12	14	13	0	2	0	0	0	2	0	5	0	4	0	2	4	2	3	2	4	0	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:152659480G>C	ENST00000368780.3	+	2	215	c.161G>C	c.(160-162)gGc>gCc	p.G54A	LCE2B_ENST00000417924.2_Missense_Mutation_p.G54A	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	54	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTCTGGGGGCTGCTGTGGT	0.647																																																	0													114	128	124					1																	152659480		2203	4300	6503	SO:0001583	missense	0			BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.161G>C	1.37:g.152659480G>C	ENSP00000357769:p.Gly54Ala		Q5TA80	Missense_Mutation	SNP	NULL	p.G54A	ENST00000368780.3	37	c.161	CCDS1020.1	1	.	.	.	.	.	.	.	.	.	.	G	0.384	-0.926921	0.02377	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.03801	3.8;3.8	2.49	0.351	0.16042	.	.	.	.	.	T	0.02193	0.0068	M	0.77313	2.365	0.20926	N	0.99983	B	0.21309	0.054	B	0.15484	0.013	T	0.40232	-0.9574	9	0.87932	D	0	.	3.3983	0.07313	0.1735:0.2711:0.5554:0.0	.	54	O14633	LCE2B_HUMAN	A	54	ENSP00000414043:G54A;ENSP00000357769:G54A	ENSP00000357769:G54A	G	+	2	0	LCE2B	150926104	0.961000	0.32948	0.352000	0.25734	0.019000	0.09904	1.611000	0.36879	-0.163000	0.10946	0.313000	0.20887	GGC	LCE2B	-	NULL	ENSG00000159455		0.647	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2B	HGNC	protein_coding	OTTHUMT00000034524.1	-	0	111	0	G	NM_014357		152659480	1	tier1	-	no_errors	ENST00000368780	ensembl	human	known	74_37	missense	33.33	92	46	SNP	0.912	C	C	152659480	G	C	152659480	3	2	156	1	0	0	0	0	1	0	0	0	8694	1203	42	5	163	5	LCE2B	1	152659480	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	577990	152659480	96591141	15	39675											
S100A5	6276	genome.wustl.edu	37	chr1	153512658	153512658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcagggccttctccagagGagtctccatcacagtgtgca	8	9	12	12	0	4	1	2	0	2	1	6	2	4	2	3	3	1	1	3	3	0	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:153512658G>T	ENST00000368718.1	-	3	291	c.10C>A	c.(10-12)Cct>Act	p.P4T	S100A5_ENST00000368717.2_Missense_Mutation_p.P4T|S100A5_ENST00000359215.1_Missense_Mutation_p.P22T	NM_002962.1	NP_002953.2	P33763	S10A5_HUMAN	S100 calcium binding protein A5	4						neuronal cell body (GO:0043025)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(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)			TTCTCCAGAGGAGTCTCCATC	0.552																																																	0													153	131	139					1																	153512658		2203	4300	6503	SO:0001583	missense	0			Z18954	CCDS1041.1, CCDS1041.2	1q21	2013-01-10	2001-11-28		ENSG00000196420	ENSG00000196420		"S100 calcium binding proteins", "EF-hand domain containing"	10495	protein-coding gene	gene with protein product		176991	"S100 calcium-binding protein A5"	S100D		8341667	Standard	NM_002962		Approved		uc001fbx.3	P33763	OTTHUMG00000013547	ENST00000368718.1:c.10C>A	1.37:g.153512658G>T	ENSP00000357707:p.Pro4Thr		Q52LE7|Q5RHS3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom	p.P22T	ENST00000368718.1	37	c.64	CCDS1041.2	1	.	.	.	.	.	.	.	.	.	.	G	7.398	0.632245	0.14322	.	.	ENSG00000196420	ENST00000368718;ENST00000359215;ENST00000368717	T;T;T	0.06528	3.29;3.29;3.29	4.95	4.03	0.46877	.	0.244410	0.41605	D	0.000858	T	0.02807	0.0084	.	.	.	0.34275	D	0.681472	B	0.30793	0.295	B	0.34722	0.188	T	0.31530	-0.9940	9	0.52906	T	0.07	.	9.469	0.38831	0.0965:0.0:0.9035:0.0	.	22	Q52LE7	.	T	4;22;4	ENSP00000357707:P4T;ENSP00000352148:P22T;ENSP00000357706:P4T	ENSP00000352148:P22T	P	-	1	0	S100A5	151779282	0.987000	0.35691	0.096000	0.21009	0.145000	0.21501	2.065000	0.41442	1.299000	0.44798	0.655000	0.94253	CCT	S100A5	-	NULL	ENSG00000196420		0.552	S100A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A5	HGNC	protein_coding	OTTHUMT00000037719.1		0	52	0	G	NM_002962		153512658	-1			no_errors	ENST00000359215	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.711	T	T	153512658	G	T	153512658	3	4	156	1	0	0	0	0	1	0	0	0	13826	1174	41	3	276	3	S100A5	1	153512658	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	853178	153512658	95737963	16	39676											
PAPPA2	60676	genome.wustl.edu	37	chr1	176525500	176525500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaataagcctggcgattttGgctgggtgggcactctgttc	7	12	14	8	1	1	1	0	0	1	1	2	2	1	1	1	4	1	3	1	4	2	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:176525500G>C	ENST00000367662.3	+	2	1206	c.42G>C	c.(40-42)ttG>ttC	p.L14F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L14F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	14					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						TGGCGATTTTGGCTGGGTGGG	0.507																																																	0													111	110	110					1																	176525500		1995	4175	6170	SO:0001583	missense	0			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.42G>C	1.37:g.176525500G>C	ENSP00000356634:p.Leu14Phe		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.L14F	ENST00000367662.3	37	c.42	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	8.181	0.793869	0.16327	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.44881	4.22;0.91	4.82	4.82	0.62117	.	0.314890	0.21608	U	0.071831	T	0.61135	0.2323	M	0.67953	2.075	0.35765	D	0.820493	D;D	0.89917	0.998;1.0	D;D	0.83275	0.994;0.996	T	0.68089	-0.5501	10	0.40728	T	0.16	-8.4555	13.391	0.60825	0.0:0.0:1.0:0.0	.	14;14	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	F	14	ENSP00000356634:L14F;ENSP00000356633:L14F	ENSP00000356633:L14F	L	+	3	2	PAPPA2	174792123	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	2.997000	0.49457	2.232000	0.73038	0.561000	0.74099	TTG	PAPPA2	-	NULL	ENSG00000116183		0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	38	0	G			176525500	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	27.66	34	13	SNP	1.000	C	C	176525500	G	C	176525500	3	2	156	1	0	0	0	0	1	0	0	0	11472	1339	47	5	44	5	PAPPA2	1	176525500	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	23012842	176525500	72725121	17	39677											
UCHL5	51377	genome.wustl.edu	37	chr1	192998780	192998780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgagtagcacaagcattaTtaattacctataaaatataa	18	13	4	6	0	0	1	0	1	0	0	0	1	0	1	1	0	3	3	1	0	10	9			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:192998780T>C	ENST00000367455.4	-	4	489	c.254A>G	c.(253-255)aAt>aGt	p.N85S	UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367448.1_Missense_Mutation_p.N85S|UCHL5_ENST00000367451.4_Missense_Mutation_p.N85S|UCHL5_ENST00000367454.1_Missense_Mutation_p.N85S|UCHL5_ENST00000367449.1_Missense_Mutation_p.N85S	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	85					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						ACAAGCATTATTAATTACCTA	0.323																																																	0													26	26	26					1																	192998780		2200	4298	6498	SO:0001583	missense	0				CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"INO80 complex subunits"	19678	protein-coding gene	gene with protein product	"INO80 complex subunit R"	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.254A>G	1.37:g.192998780T>C	ENSP00000356425:p.Asn85Ser		Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Missense_Mutation	SNP	pfam_Peptidase_C12,pirsf_Ubiquitinyl_hydrolase_UCH37,prints_Peptidase_C12	p.N85S	ENST00000367455.4	37	c.254	CCDS1378.1	1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157168	0.57259	.	.	ENSG00000116750	ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000391991;ENST00000421683	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.67	5.67	0.87782	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	L	0.52905	1.665	0.80722	D	1	B;B;B;B	0.26041	0.049;0.097;0.045;0.14	B;B;B;B	0.29440	0.018;0.018;0.018;0.102	T	0.21518	-1.0243	9	.	.	.	-11.0012	16.1924	0.82000	0.0:0.0:0.0:1.0	.	85;85;85;85	Q9Y5K5-2;Q9Y5K5-4;Q9Y5K5-3;Q9Y5K5	.;.;.;UCHL5_HUMAN	S	85;85;97;85;85;85;75;76	ENSP00000356425:N85S;ENSP00000356424:N85S;ENSP00000356420:N97S;ENSP00000356421:N85S;ENSP00000356418:N85S;ENSP00000356419:N85S;ENSP00000389563:N76S	.	N	-	2	0	UCHL5	191265403	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.622000	0.83099	2.287000	0.76781	0.482000	0.46254	AAT	UCHL5	-	pfam_Peptidase_C12,pirsf_Ubiquitinyl_hydrolase_UCH37,prints_Peptidase_C12	ENSG00000116750		0.323	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UCHL5	HGNC	protein_coding	OTTHUMT00000086318.3	-	0	55	0	T	NM_015984		192998780	-1	tier1	-	no_errors	ENST00000367451	ensembl	human	known	74_37	missense	26.92	38	14	SNP	1.000	C	C	192998780	T	C	192998780	3	2	156	1	0	0	0	0	1	0	0	0	16971	1493	52	4	767	4	UCHL5	1	192998780	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	16473280	192998780	56251841	18	39678											
RYR2	6262	genome.wustl.edu	37	chr1	237947387	237947387	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggaattagcagagagcgtCctgaattatttccagccctt	10	12	9	10	1	0	2	0	1	0	1	2	4	2	3	3	1	3	1	3	1	4	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:237947387C>G	ENST00000366574.2	+	90	12692	c.12375C>G	c.(12373-12375)gtC>gtG	p.V4125V	RYR2_ENST00000542537.1_Silent_p.V4109V|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.V4131V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4125					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			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)			CAGAGAGCGTCCTGAATTATT	0.517																																																	0													63	63	63					1																	237947387		1921	4137	6058	SO:0001819	synonymous_variant	0			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.12375C>G	1.37:g.237947387C>G			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.V4131	ENST00000366574.2	37	c.12393	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	29	0	C	NM_001035		237947387	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	37.50	20	12	SNP	0.917	G	G	237947387	C	G	237947387	2	3	156	1	0	0	0	0	0	0	0	1	13814	842	30	5		5	RYR2	1	237947387	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	44948607	237947387	11303234	19	39679											
RYR2	6262	genome.wustl.edu	37	chr1	237955575	237955575	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgtatcttagctattctGcacacggtcatttctttctt	6	19	6	10	2	5	0	1	0	4	0	5	0	5	0	0	1	3	3	0	1	3	8			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:237955575G>T	ENST00000366574.2	+	94	14051	c.13734G>T	c.(13732-13734)ctG>ctT	p.L4578L	RYR2_ENST00000542537.1_Silent_p.L4562L|RYR2_ENST00000360064.6_Silent_p.L4584L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4578					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)			TAGCTATTCTGCACACGGTCA	0.478																																																	0													70	75	74					1																	237955575		2069	4196	6265	SO:0001819	synonymous_variant	0			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.13734G>T	1.37:g.237955575G>T			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L4584	ENST00000366574.2	37	c.13752	CCDS55691.1	1																																																																																			RYR2	-	pfam_Ryanrecept_TM4-6	ENSG00000198626		0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0	17	0	G	NM_001035		237955575	1			no_errors	ENST00000360064	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.976	T	T	237955575	G	T	237955575	2	4	156	1	0	0	0	0	0	0	0	1	13814	1306	46	3		3	RYR2	1	237955575	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	8188	237955575	11295046	20	39680											
FMN2	56776	genome.wustl.edu	37	chr1	240555817	240555817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgcactttcagccaaaaTtgaccaagaggcagaggaaa	15	8	9	9	0	2	3	1	1	1	2	2	4	2	4	2	2	2	2	2	2	4	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:240555817T>C	ENST00000319653.9	+	15	5095	c.4865T>C	c.(4864-4866)aTt>aCt	p.I1622T	FMN2_ENST00000545751.1_Missense_Mutation_p.I218T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1622	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)			TCAGCCAAAATTGACCAAGAG	0.333																																																	0													116	124	122					1																	240555817		2203	4300	6503	SO:0001583	missense	0			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.4865T>C	1.37:g.240555817T>C	ENSP00000318884:p.Ile1622Thr		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.I1622T	ENST00000319653.9	37	c.4865	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	T	3.682	-0.065423	0.07273	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.15487	2.42;2.42	5.47	4.35	0.52113	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.103901	0.39687	N	0.001291	T	0.10294	0.0252	N	0.21240	0.645	0.80722	D	1	B;B;B;B	0.17852	0.003;0.0;0.003;0.024	B;B;B;B	0.13407	0.003;0.001;0.003;0.009	T	0.16571	-1.0398	10	0.15499	T	0.54	.	8.8374	0.35119	0.0:0.0853:0.0:0.9147	.	218;237;251;1622	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	T	1622;218;249;98	ENSP00000318884:I1622T;ENSP00000437918:I218T	ENSP00000318884:I1622T	I	+	2	0	FMN2	238622440	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.411000	0.59781	0.922000	0.37019	0.528000	0.53228	ATT	FMN2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000155816		0.333	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	68	0	T	XM_371352		240555817	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	39.74	47	31	SNP	1.000	C	C	240555817	T	C	240555817	3	2	156	1	0	0	0	0	1	0	0	0	5972	1493	52	4	4923	4	FMN2	1	240555817	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	2600242	240555817	8694804	21	39681											
AKT3	10000	genome.wustl.edu	37	chr1	243809220	243809220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttatgatgggttgtagagGcatccatctcttcctctcct	6	17	8	10	0	2	2	0	1	2	1	6	2	4	2	3	2	0	3	3	2	2	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr1:243809220G>A	ENST00000366539.1	-	5	604	c.404C>T	c.(403-405)gCc>gTc	p.A135V	AKT3_ENST00000366540.1_Missense_Mutation_p.A135V|AKT3_ENST00000336199.5_Missense_Mutation_p.A135V|AKT3_ENST00000263826.5_Missense_Mutation_p.A135V			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	135					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)			GGTTGTAGAGGCATCCATCTC	0.388																																																	0													193	188	190					1																	243809220		2203	4300	6503	SO:0001583	missense	0			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.404C>T	1.37:g.243809220G>A	ENSP00000355497:p.Ala135Val		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.A135V	ENST00000366539.1	37	c.404	CCDS31077.1	1	.	.	.	.	.	.	.	.	.	.	G	4.851	0.158198	0.09236	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;2.43	5.09	5.09	0.68999	.	0.188551	0.46442	D	0.000284	T	0.17874	0.0429	N	0.08118	0	0.37759	D	0.92625	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.14671	-1.0464	10	0.11182	T	0.66	.	11.9419	0.52905	0.0796:0.0:0.9204:0.0	.	135;135	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	V	135	ENSP00000336943:A135V;ENSP00000355498:A135V;ENSP00000355497:A135V;ENSP00000263826:A135V;ENSP00000447820:A135V	ENSP00000263826:A135V	A	-	2	0	AKT3	241875843	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	3.320000	0.51991	2.361000	0.80049	0.591000	0.81541	GCC	AKT3	-	NULL	ENSG00000117020		0.388	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT3	HGNC	protein_coding	OTTHUMT00000096479.1	-	0	56	0	G	NM_181690		243809220	-1	tier1	-	no_errors	ENST00000263826	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A	A	243809220	G	A	243809220	3	1	156	1	0	0	0	0	1	0	0	0	481	1203	42	3	1123	3	AKT3	1	243809220	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	3253403	243809220	5441401	22	39682											
ODC1	4953	genome.wustl.edu	37	chr2	10580959	10580959	+	Frame_Shift_Del	DEL	G	G	-																															cctgttcctctacttcgggtGggaagtcggggttctggaat																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:10580959delG	ENST00000234111.4	-	12	1787	c.1277delC	c.(1276-1278)ccafs	p.P427fs	ODC1_ENST00000405333.1_Frame_Shift_Del_p.P427fs	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	427					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	TACTTCGGGTGGGAAGTCGGG	0.507																																																	0													98	96	97					2																	10580959		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.1277delC	2.37:g.10580959delG	ENSP00000234111:p.Pro427fs		Q53TU3|Q6LDS9	Frame_Shift_Del	DEL	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.P426fs	ENST00000234111.4	37	c.1277	CCDS1672.1	2																																																																																			ODC1	-	NULL	ENSG00000115758		0.507	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODC1	HGNC	protein_coding	OTTHUMT00000206896.2		0	68	0	G			10580959	-1	tier1		no_errors	ENST00000234111	ensembl	human	known	74_37	frame_shift_del	12.07	51	7	DEL	0.229	-	-	10580959	G	-	10580959	7	5	156	1	0	1	0	1	0	0	0	0	10864	1348	47	0	112	0	ODC1	2	10580959	Frame_Shift_Del	DEL	G	TCGA-V5-A7RC-01B-11D-A403-09		10580959	232618414	23	39683											
LPIN1	23175	genome.wustl.edu	37	chr2	11927288	11927288	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatctcgtggtaaagattggGagtaagtaagtacctcttga	13	12	11	5	1	2	2	0	1	2	1	3	3	2	3	1	2	1	4	1	2	6	6			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:11927288G>T	ENST00000256720.2	+	10	1623	c.1530G>T	c.(1528-1530)ggG>ggT	p.G510G	LPIN1_ENST00000404113.2_5'UTR|LPIN1_ENST00000449576.2_Silent_p.G595G|LPIN1_ENST00000396099.1_Silent_p.G552G|LPIN1_ENST00000425416.2_Silent_p.G516G|LPIN1_ENST00000396097.1_Silent_p.G240G	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	510					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)		TAAAGATTGGGAGTAAGTAAG	0.403																																																	0													121	103	109					2																	11927288		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1530G>T	2.37:g.11927288G>T			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.G595	ENST00000256720.2	37	c.1785	CCDS1682.1	2																																																																																			LPIN1	-	NULL	ENSG00000134324		0.403	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3		0	57	0	G	NM_145693		11927288	1			no_errors	ENST00000449576	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.152	T	T	11927288	G	T	11927288	2	4	156	1	0	0	0	0	0	0	0	1	8953	1161	41	3		3	LPIN1	2	11927288	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	1346329	11927288	231272085	24	39684											
ALK	238	genome.wustl.edu	37	chr2	29519902	29519902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcccctcaagactccacGaatgagccaggacattcgga	11	8	9	13	2	1	2	1	1	0	1	4	5	3	4	4	2	1	1	4	2	2	2	rs200364883		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:29519902G>T	ENST00000389048.3	-	9	2575	c.1669C>A	c.(1669-1671)Cgt>Agt	p.R557S	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	557	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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.R557C(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)	AAGACTCCACGAATGAGCCAG	0.527			"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	Substitution - Missense(1)	NS(1)											115	93	100					2																	29519902		2203	4300	6503	SO:0001583	missense	0	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.1669C>A	2.37:g.29519902G>T	ENSP00000373700:p.Arg557Ser		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R557S	ENST00000389048.3	37	c.1669	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749196	0.49257	.	.	ENSG00000171094	ENST00000389048	T	0.01854	4.6	5.2	4.31	0.51392	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.449337	0.18745	U	0.132341	T	0.01940	0.0061	N	0.19112	0.55	0.80722	D	1	B	0.28400	0.21	B	0.25405	0.06	T	0.60762	-0.7199	9	.	.	.	.	12.1402	0.53994	0.0:0.0:0.8283:0.1717	.	557	Q9UM73	ALK_HUMAN	S	557	ENSP00000373700:R557S	.	R	-	1	0	ALK	29373406	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.973000	0.70456	1.167000	0.42706	0.563000	0.77884	CGT	ALK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom	ENSG00000171094		0.527	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1		0	17	0	G	NM_004304		29519902	-1			no_errors	ENST00000389048	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	29519902	G	T	29519902	3	4	156	1	0	0	0	0	1	0	0	0	525	1058	37	2	3277	2	ALK	2	29519902	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	17592614	29519902	213679471	25	39685											
ETAA1	54465	genome.wustl.edu	37	chr2	67626404	67626404	+	Frame_Shift_Del	DEL	G	G	-																															aatgatatcttttgggatcaGaattctccattgacaaagca																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:67626404delG	ENST00000272342.5	+	2	457	c.327delG	c.(325-327)cagfs	p.Q109fs		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	109						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						TTTGGGATCAGAATTCTCCAT	0.333																																																	0													67	64	65					2																	67626404		2203	4300	6503	SO:0001589	frameshift_variant	0			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.327delG	2.37:g.67626404delG	ENSP00000272342:p.Gln109fs		Q05BT7|Q53SC4	Frame_Shift_Del	DEL	NULL	p.N110fs	ENST00000272342.5	37	c.327	CCDS1882.1	2																																																																																			ETAA1	-	NULL	ENSG00000143971		0.333	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1		0	120	0	G	NM_019002		67626404	1	tier1		no_errors	ENST00000272342	ensembl	human	known	74_37	frame_shift_del	31.84	122	57	DEL	0.368	-	-	67626404	G	-	67626404	7	5	156	1	0	1	0	1	0	0	0	0	5283	933	33	0	333	0	ETAA1	2	67626404	Frame_Shift_Del	DEL	G	TCGA-V5-A7RC-01B-11D-A403-09	38106502	67626404	175572969	26	39686											
ZAP70	7535	genome.wustl.edu	37	chr2	98351150	98351150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcaactttggctcagtgCgccagggcgtgtaccgcatg	6	8	15	12	4	1	0	1	0	0	0	1	0	1	0	2	3	3	4	2	3	2	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:98351150C>A	ENST00000264972.5	+	9	1272	c.1057C>A	c.(1057-1059)Cgc>Agc	p.R353S	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.R227S|ZAP70_ENST00000451498.2_Missense_Mutation_p.R46S	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TGGCTCAGTGCGCCAGGGCGT	0.637																																																	0													131	110	117					2																	98351150		2203	4300	6503	SO:0001583	missense	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1057C>A	2.37:g.98351150C>A	ENSP00000264972:p.Arg353Ser		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R353S	ENST00000264972.5	37	c.1057	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944728	0.73672	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.62105	0.05;0.05;0.05	5.41	5.41	0.78517	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.174518	0.27068	N	0.021081	T	0.48077	0.1480	N	0.17564	0.495	0.33825	D	0.62953	P;P	0.52463	0.953;0.921	B;P	0.44422	0.423;0.449	T	0.60495	-0.7252	10	0.38643	T	0.18	.	12.0812	0.53671	0.1718:0.8281:0.0:0.0	.	227;353	P43403-3;P43403	.;ZAP70_HUMAN	S	353;227;46	ENSP00000264972:R353S;ENSP00000411141:R227S;ENSP00000400475:R46S	ENSP00000264972:R353S	R	+	1	0	ZAP70	97717582	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	2.655000	0.46707	2.723000	0.93209	0.655000	0.94253	CGC	ZAP70	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom	ENSG00000115085		0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1		0	41	0	C			98351150	1			no_errors	ENST00000264972	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	98351150	C	A	98351150	3	1	156	1	0	0	0	0	1	0	0	0	17563	768	27	2	1083	2	ZAP70	2	98351150	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	30724746	98351150	144848223	27	39687											
PCDP1	200373	genome.wustl.edu	37	chr2	120366079	120366079	+	Splice_Site	SNP	C	C	A	0	0	0	1	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	tttttttttttctccccaggCaggtgcaccttggtaaagat	7	17	8	9	0	1	1	0	0	1	1	2	1	1	1	3	3	1	3	3	3	2	7			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:120366079C>A	ENST00000413369.3	+	12	1222	c.1135C>A	c.(1135-1137)Cag>Aag	p.Q379K	PCDP1_ENST00000602047.1_Splice_Site_p.Q93K|PCDP1_ENST00000597189.1_Intron	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					TCTCCCCAGGCAGGTGCACCT	0.378																																																	0													72	79	76					2																	120366079		2203	4300	6503	SO:0001630	splice_region_variant	0																														ENST00000413369.3:c.1134-1C>A	2.37:g.120366079C>A				Missense_Mutation	SNP	NULL	p.Q379K	ENST00000413369.3	37	c.1135	CCDS33282.2	2	.	.	.	.	.	.	.	.	.	.	C	15.81	2.941786	0.53079	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.17370	2.28	4.65	2.78	0.32641	.	0.000000	0.64402	D	0.000002	T	0.20007	0.0481	L	0.43152	1.355	0.80722	D	1	P;P	0.48640	0.865;0.913	P;P	0.48873	0.593;0.493	T	0.01059	-1.1465	10	0.41790	T	0.15	-9.5602	10.9508	0.47327	0.3409:0.6591:0.0:0.0	.	223;379	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	K	93;379	ENSP00000393222:Q379K	ENSP00000295220:Q93K	Q	+	1	0	AC069154.2	120082549	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.913000	0.39956	0.629000	0.30376	0.655000	0.94253	CAG	PCDP1	-	NULL	ENSG00000163075		0.378	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCDP1	Uniprot_gn	protein_coding	OTTHUMT00000464236.1	-	0	155	0	C		Missense_Mutation	120366079	1	tier1	-	no_errors	ENST00000413369	ensembl	human	known	74_37	missense	13.50	173	27	SNP	1.000	A	A	120366079	C	A	120366079	5	1	156	1	0	0	0	0	0	0	1	0	11611	724	25	3	291	3	PCDP1	2	120366079	Splice_Site	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	22014929	120366079	122833294	28	39688											
POTEF	728378	genome.wustl.edu	37	chr2	130834673	130834673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcagaattcattttttcaAccacttctatctgcttttct	8	19	2	12	0	6	1	3	0	3	1	6	1	6	1	2	0	2	1	2	0	3	8			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:130834673A>G	ENST00000409914.2	-	16	2279	c.1880T>C	c.(1879-1881)gTt>gCt	p.V627A	POTEF_ENST00000357462.5_Missense_Mutation_p.V627A|POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000360967.5_3'UTR	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	627					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						CATTTTTTCAACCACTTCTAT	0.279																																																	0													1	1	1					2																	130834673		114	381	495	SO:0001583	missense	0			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.1880T>C	2.37:g.130834673A>G	ENSP00000386786:p.Val627Ala		A6NC34	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.V627A	ENST00000409914.2	37	c.1880	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	0.082	-1.181086	0.01633	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.74632	-0.86;-0.86	1.14	0.215	0.15253	.	.	.	.	.	T	0.40979	0.1139	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27468	-1.0073	9	0.11485	T	0.65	.	3.7331	0.08500	0.2652:0.0:0.7348:0.0	.	627	A5A3E0	POTEF_HUMAN	A	627	ENSP00000350052:V627A;ENSP00000386786:V627A	ENSP00000350052:V627A	V	-	2	0	POTEF	130551143	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	-0.314000	0.08092	0.058000	0.16222	-1.392000	0.01152	GTT	POTEF	-	NULL	ENSG00000196604		0.279	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	-	0	48	0	A	NM_001099771		130834673	-1	tier1	-	no_errors	ENST00000357462	ensembl	human	known	74_37	missense	35.00	26	14	SNP	0.003	G	G	130834673	A	G	130834673	3	3	156	1	0	0	0	0	1	0	0	0	12304	43	2	4	1355	4	POTEF	2	130834673	Missense_Mutation	SNP	A	TCGA-V5-A7RC-01B-11D-A403-09	10468594	130834673	112364700	29	39689											
SMPD4	55627	genome.wustl.edu	37	chr2	130910744	130910744	+	Splice_Site	SNP	T	T	C	0	1	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	ccttcgcagcccattgatgaTctagaaagccaggccatggg	10	8	11	12	1	1	3	0	2	1	1	2	3	1	3	4	2	2	1	4	2	2	3	rs553662129		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:130910744T>C	ENST00000409031.1	-	19	3291	c.2143A>G	c.(2143-2145)Atc>Gtc	p.I715V	SMPD4_ENST00000351288.6_Splice_Site_p.I686V|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000339679.7_Splice_Site_p.I573V|SMPD4_ENST00000431183.2_Splice_Site_p.I613V|SMPD4_ENST00000443958.2_Splice_Site_p.I379V|SMPD4_ENST00000453750.1_Splice_Site_p.I464V|SMPD4_ENST00000426662.2_Splice_Site_p.I351V|SMPD4_ENST00000452225.2_Splice_Site_p.I456V	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	676					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCATTGATGATCTAGAAAGCC	0.582													.|||	1	0.000199681	0	0	5008	,	,		17673	0		0	False		,,,				2504	0.001																0													49	56	54					2																	130910744		2203	4300	6503	SO:0001630	splice_region_variant	0			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2143-1A>G	2.37:g.130910744T>C			B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	NULL	p.I715V	ENST00000409031.1	37	c.2143	CCDS42751.1	2	.	.	.	.	.	.	.	.	.	.	.	9.257	1.042246	0.19748	.	.	ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662	.	.	.	4.09	4.09	0.47781	.	0.155506	0.56097	D	0.000036	T	0.44435	0.1293	L	0.29908	0.895	0.37439	D	0.914353	B;B;B;B;P;B;B;B;B;B	0.44309	0.028;0.075;0.061;0.061;0.832;0.095;0.007;0.063;0.119;0.075	B;B;B;B;P;B;B;B;B;B	0.48627	0.019;0.032;0.031;0.031;0.584;0.033;0.013;0.023;0.037;0.058	T	0.38845	-0.9642	9	0.11182	T	0.66	.	11.0769	0.48036	0.0:0.0:0.0:1.0	.	351;456;613;573;464;647;676;715;722;247	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.	V	686;715;613;464;379;573;456;351	.	ENSP00000339721:I573V	I	-	1	0	SMPD4	130627214	1.000000	0.71417	0.999000	0.59377	0.665000	0.39181	5.811000	0.69187	1.485000	0.48380	0.449000	0.29647	ATC	SMPD4	-	NULL	ENSG00000136699		0.582	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD4	HGNC	protein_coding	OTTHUMT00000254516.3	-	0	38	0	T	NM_017751	Missense_Mutation	130910744	-1	tier1	-	no_errors	ENST00000409031	ensembl	human	known	74_37	missense	33.33	30	15	SNP	1.000	C	C	130910744	T	C	130910744	5	2	156	1	0	0	0	0	0	0	1	0	14852	1449	50	4	465	4	SMPD4	2	130910744	Splice_Site	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	76071	130910744	112288629	30	39690											
YSK4	80122	genome.wustl.edu	37	chr2	135722473	135722473	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctggagagcagaaggtcGctcatgctggtccctaagaa	11	7	14	9	1	1	3	1	0	0	3	3	5	2	3	1	3	3	4	1	3	3	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:135722473G>A	ENST00000375845.3	-	10	3964	c.3934C>T	c.(3934-3936)Cga>Tga	p.R1312*	MAP3K19_ENST00000392918.3_Nonsense_Mutation_p.R446*|MAP3K19_ENST00000375844.3_Nonsense_Mutation_p.R494*|MAP3K19_ENST00000392917.3_Nonsense_Mutation_p.R444*|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.R1199*	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GCAGAAGGTCGCTCATGCTGG	0.448																																																	0													60	53	56					2																	135722473		2203	4300	6503	SO:0001587	stop_gained	0			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.3934C>T	2.37:g.135722473G>A	ENSP00000365005:p.Arg1312*		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R1312*	ENST00000375845.3	37	c.3934	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560048	0.86335	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917	.	.	.	5.82	1.74	0.24563	.	0.000000	0.39146	N	0.001451	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6453	0.62277	0.0:0.0:0.4502:0.5498	.	.	.	.	X	1312;1199;494;446;444	.	ENSP00000351140:R1199X	R	-	1	2	YSK4	135438943	0.820000	0.29190	0.995000	0.50966	0.995000	0.86356	1.548000	0.36201	0.034000	0.15491	0.561000	0.74099	CGA	MAP3K19	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000176601		0.448	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	-	0	42	0	G	NM_025052		135722473	-1	tier1	-	no_errors	ENST00000375845	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	0.996	A	A	135722473	G	A	135722473	4	1	156	1	0	0	0	0	0	1	0	0	17544	1095	38	1	56	1	YSK4	2	135722473	Nonsense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	4811729	135722473	107476900	31	39691											
TTN	7273	genome.wustl.edu	37	chr2	179445305	179445305	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtaatatgagtgtcttcctTaagtccgcatcaagttctcc	9	14	7	11	2	3	1	1	1	2	0	6	1	5	1	3	0	0	3	3	0	4	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:179445305T>G	ENST00000591111.1	-	267	62102	c.61878A>C	c.(61876-61878)ttA>ttC	p.L20626F	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L19699F|TTN_ENST00000589042.1_Missense_Mutation_p.L22267F|TTN_ENST00000342175.6_Missense_Mutation_p.L13394F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L13202F|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L13327F|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20626					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)			GTGTCTTCCTTAAGTCCGCAT	0.388																																																	0													67	58	61					2																	179445305		1846	4089	5935	SO:0001583	missense	0			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.61878A>C	2.37:g.179445305T>G	ENSP00000465570:p.Leu20626Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L19699F	ENST00000591111.1	37	c.59097		2	.	.	.	.	.	.	.	.	.	.	T	10.03	1.239280	0.22711	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65916	-0.18;0.04;-0.09;0.0	5.34	2.2	0.27929	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.68751	0.3035	L	0.61387	1.9	0.50467	D	0.999875	D;D;D;D	0.58268	0.982;0.982;0.982;0.967	P;P;P;P	0.60473	0.875;0.875;0.875;0.771	T	0.65903	-0.6055	9	0.87932	D	0	.	6.0579	0.19822	0.0:0.5624:0.1712:0.2664	.	13202;13327;13394;20626	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	19699;13202;13394;13327;13200	ENSP00000343764:L19699F;ENSP00000434586:L13202F;ENSP00000340554:L13394F;ENSP00000352154:L13327F	ENSP00000340554:L13394F	L	-	3	2	TTN	179153551	1.000000	0.71417	0.506000	0.27664	0.966000	0.64601	1.318000	0.33643	0.106000	0.17784	0.460000	0.39030	TTA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	35	0	T	NM_133378		179445305	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	36.96	29	17	SNP	0.998	G	G	179445305	T	G	179445305	3	3	156	1	0	0	0	0	1	0	0	0	16784	1751	61	4	41362	4	TTN	2	179445305	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	43722832	179445305	63754068	32	39692											
ALS2CR8	79800	genome.wustl.edu	37	chr2	203807485	203807485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctaatctgtatggactccaGggattcttcctttggacaaa	10	14	8	9	0	3	0	0	0	3	0	5	3	5	3	2	3	0	1	2	3	3	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:203807485G>T	ENST00000402905.3	+	4	422	c.101G>T	c.(100-102)aGg>aTg	p.R34M	CARF_ENST00000444724.1_Missense_Mutation_p.R34M|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Intron|CARF_ENST00000434998.1_Intron|CARF_ENST00000320443.8_Missense_Mutation_p.R34M|CARF_ENST00000438828.2_Missense_Mutation_p.R34M|CARF_ENST00000414439.1_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000456821.2_Missense_Mutation_p.R22M	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	34					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)										ATGGACTCCAGGGATTCTTCC	0.348																																																	0													60	55	56					2																	203807485		1841	4089	5930	SO:0001583	missense	0			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.101G>T	2.37:g.203807485G>T	ENSP00000384006:p.Arg34Met		B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Splice_Site	SNP	-	e2-1	ENST00000402905.3	37	c.79-1	CCDS42801.1	2	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134598	0.56828	.	.	ENSG00000138380	ENST00000402905;ENST00000414490;ENST00000431787;ENST00000444724;ENST00000414857;ENST00000445120;ENST00000441569;ENST00000432024;ENST00000443740;ENST00000456821;ENST00000320443;ENST00000438828	.	.	.	5.64	3.85	0.44370	.	0.398961	0.26784	N	0.022504	T	0.51058	0.1652	L	0.56769	1.78	0.23473	N	0.9976	P;D;P	0.60575	0.944;0.988;0.904	P;P;P	0.56514	0.724;0.8;0.724	T	0.43310	-0.9399	9	0.62326	D	0.03	0.3049	9.5196	0.39126	0.1639:0.0:0.8361:0.0	.	34;34;34	B4DRP6;Q8N187;F6SXV3	.;AL2S8_HUMAN;.	M	34;34;4;34;34;4;34;34;34;22;34;34	.	ENSP00000316224:R34M	R	+	2	0	ALS2CR8	203515730	1.000000	0.71417	0.369000	0.25952	0.996000	0.88848	1.901000	0.39838	0.750000	0.32877	0.563000	0.77884	AGG	CARF	-	-	ENSG00000138380		0.348	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARF	HGNC	protein_coding	OTTHUMT00000335768.5		0	45	0	G	NM_001104586		203807485	1			no_errors	ENST00000427712	ensembl	human	known	74_37	splice_site	5.36	53	3	SNP	0.954	T	T	203807485	G	T	203807485	3	4	156	1	0	0	0	0	1	0	0	0	555	1000	35	3	107	3	ALS2CR8	2	203807485	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	24362180	203807485	39391888	33	39693											
IKZF2	22807	genome.wustl.edu	37	chr2	213872143	213872143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactcataacggtcctggcTtctgtagccacagatgttgc	10	11	9	11	1	2	1	1	0	1	1	3	1	3	1	2	2	4	3	2	2	3	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:213872143T>C	ENST00000434687.1	-	9	1831	c.1522A>G	c.(1522-1524)Agc>Ggc	p.S508G	IKZF2_ENST00000374319.4_Missense_Mutation_p.S482G|IKZF2_ENST00000457361.1_Missense_Mutation_p.S508G|IKZF2_ENST00000451136.2_Missense_Mutation_p.S436G|IKZF2_ENST00000374327.4_Missense_Mutation_p.S363G|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Missense_Mutation_p.S434G|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000342002.2_Missense_Mutation_p.S514G			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	508					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)		CGGTCCTGGCTTCTGTAGCCA	0.498																																																	0													121	111	114					2																	213872143		2203	4300	6503	SO:0001583	missense	0			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.1522A>G	2.37:g.213872143T>C	ENSP00000412869:p.Ser508Gly		Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S508G	ENST00000434687.1	37	c.1522	CCDS2395.1	2	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626468	0.66901	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	M	0.81112	2.525	0.80722	D	1	P;P;D;D;P;D	0.71674	0.802;0.587;0.989;0.998;0.512;0.996	B;B;P;D;B;D	0.75484	0.266;0.266;0.712;0.953;0.195;0.986	T	0.72194	-0.4364	10	0.87932	D	0	-8.3851	15.915	0.79508	0.0:0.0:0.0:1.0	.	436;434;363;482;508;286	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	G	508;514;508;482;436;434;363;212	ENSP00000410447:S508G;ENSP00000342876:S514G;ENSP00000412869:S508G;ENSP00000363439:S482G;ENSP00000395203:S436G;ENSP00000399574:S434G;ENSP00000363447:S363G	ENSP00000342876:S514G	S	-	1	0	IKZF2	213580388	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.977000	0.88081	2.158000	0.67659	0.533000	0.62120	AGC	IKZF2	-	smart_Znf_C2H2-like	ENSG00000030419		0.498	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	HGNC	protein_coding	OTTHUMT00000256593.3	-	0	86	0	T	NM_016260		213872143	-1	tier1	-	no_errors	ENST00000434687	ensembl	human	known	74_37	missense	26.25	59	21	SNP	1.000	C	C	213872143	T	C	213872143	3	2	156	1	0	0	0	0	1	0	0	0	7642	1609	56	4	62	4	IKZF2	2	213872143	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	10064658	213872143	29327230	34	39694											
ZNF142	7701	genome.wustl.edu	37	chr2	219505483	219505483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgttcctccttgtggatccGcatgtggtactggaagaggc	6	11	13	11	2	0	1	0	0	0	1	3	3	3	3	4	4	1	3	4	4	2	3	rs367658234		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr2:219505483G>A	ENST00000449707.1	-	9	4919	c.4498C>T	c.(4498-4500)Cgg>Tgg	p.R1500W	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1500W	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1500					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)		TTGTGGATCCGCATGTGGTAC	0.448																																					Colon(170;867 1942 8995 15834 18053)												0								G	TRP/ARG	1,4025		0,1,2012	97	97	97		4498	1.9	1	2		97	0,8378		0,0,4189	no	missense	ZNF142	NM_001105537.1	101	0,1,6201	AA,AG,GG		0.0,0.0248,0.0081	probably-damaging	1500/1688	219505483	1,12403	2013	4189	6202	SO:0001583	missense	0			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.4498C>T	2.37:g.219505483G>A	ENSP00000408643:p.Arg1500Trp		Q92510	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1500W	ENST00000449707.1	37	c.4498	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044053	0.75732	2.48E-4	0.0	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.25579	1.79;1.79	5.94	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048032	0.85682	D	0.000000	T	0.57403	0.2051	M	0.89968	3.075	0.50813	D	0.999894	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67373	-0.5687	10	0.87932	D	0	-30.7738	15.6004	0.76620	0.0:0.0:0.4981:0.5019	.	1500;1337	P52746;A8MWU9	ZN142_HUMAN;.	W	1500	ENSP00000408643:R1500W;ENSP00000398798:R1500W	ENSP00000398798:R1500W	R	-	1	2	ZNF142	219213727	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	3.259000	0.51515	0.051000	0.15978	-0.188000	0.12872	CGG	ZNF142	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000115568		0.448	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	-	0	60	0	G	NM_005081		219505483	-1	tier1	-	no_errors	ENST00000411696	ensembl	human	known	74_37	missense	13.33	52	8	SNP	1.000	A	A	219505483	G	A	219505483	3	1	156	1	0	0	0	0	1	0	0	0	17779	1086	38	1	573	1	ZNF142	2	219505483	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	5633340	219505483	23693890	35	39695											
NUP210	23225	genome.wustl.edu	37	chr3	13378360	13378360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaaggtcaggcctggcacgGcattgccaaaggagaaaggg	12	4	17	8	1	1	1	1	0	0	1	1	3	1	2	2	7	1	2	2	7	3	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr3:13378360G>T	ENST00000254508.5	-	27	3693	c.3611C>A	c.(3610-3612)gCc>gAc	p.A1204D	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1204					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCCTGGCACGGCATTGCCAAA	0.617																																																	0													133	112	119					3																	13378360		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3611C>A	3.37:g.13378360G>T	ENSP00000254508:p.Ala1204Asp		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.A1204D	ENST00000254508.5	37	c.3611	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110091	0.56398	.	.	ENSG00000132182	ENST00000254508	T	0.07216	3.21	5.26	4.38	0.52667	.	0.126733	0.52532	D	0.000070	T	0.31231	0.0790	M	0.82630	2.6	0.58432	D	0.999999	D	0.76494	0.999	D	0.67725	0.953	T	0.24764	-1.0151	10	0.72032	D	0.01	-8.3633	16.1465	0.81575	0.0:0.134:0.866:0.0	.	1204	Q8TEM1	PO210_HUMAN	D	1204	ENSP00000254508:A1204D	ENSP00000254508:A1204D	A	-	2	0	NUP210	13353360	1.000000	0.71417	0.951000	0.38953	0.236000	0.25371	5.208000	0.65203	1.341000	0.45600	-0.274000	0.10170	GCC	NUP210	-	NULL	ENSG00000132182		0.617	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1		0	71	0	G	NM_024923		13378360	-1			no_errors	ENST00000254508	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.989	T	T	13378360	G	T	13378360	3	4	156	1	0	0	0	0	1	0	0	0	10799	1203	42	3	2108	3	NUP210	3	13378360	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09		13378360	184644070	36	39696											
NISCH	11188	genome.wustl.edu	37	chr3	52522221	52522221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggccgtcaagtccgccGccatcccctactggctgttg	5	9	11	16	3	1	1	1	1	0	0	3	1	3	1	6	2	1	2	6	2	2	2	rs372469950		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr3:52522221G>T	ENST00000479054.1	+	17	2785	c.2713G>T	c.(2713-2715)Gcc>Tcc	p.A905S	NISCH_ENST00000345716.4_Missense_Mutation_p.A905S			Q9Y2I1	NISCH_HUMAN	nischarin	905					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)	CAAGTCCGCCGCCATCCCCTA	0.657																																																	0													72	61	64					3																	52522221		2203	4300	6503	SO:0001583	missense	0			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.2713G>T	3.37:g.52522221G>T	ENSP00000418232:p.Ala905Ser		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.A905S	ENST00000479054.1	37	c.2713	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972111	0.34754	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.06608	3.28;3.28	4.48	3.6	0.41247	.	0.583926	0.18631	N	0.135599	T	0.03011	0.0089	N	0.08118	0	0.32388	N	0.553686	B	0.31413	0.322	B	0.24701	0.055	T	0.35624	-0.9781	10	0.21014	T	0.42	-20.4192	9.178	0.37123	0.1054:0.0:0.8946:0.0	.	905	Q9Y2I1	NISCH_HUMAN	S	905;905;249	ENSP00000418232:A905S;ENSP00000339958:A905S	ENSP00000339958:A905S	A	+	1	0	NISCH	52497261	1.000000	0.71417	0.971000	0.41717	0.498000	0.33706	4.036000	0.57304	1.194000	0.43101	0.462000	0.41574	GCC	NISCH	-	NULL	ENSG00000010322		0.657	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1		0	24	0	G	NM_007184		52522221	1			no_errors	ENST00000345716	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.992	T	T	52522221	G	T	52522221	3	4	156	1	0	0	0	0	1	0	0	0	10471	1087	38	2	2775	2	NISCH	3	52522221	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	39143861	52522221	145500209	37	39697											
MITF	4286	genome.wustl.edu	37	chr3	69987140	69987140	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcatgccaccggtgccgggGagcagcgcacccaacagccc	8	3	13	17	3	1	0	1	0	0	0	1	1	1	1	5	3	6	2	5	3	1	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr3:69987140G>T	ENST00000448226.2	+	3	649	c.522G>T	c.(520-522)ggG>ggT	p.G174G	MITF_ENST00000394355.2_Silent_p.G149G|MITF_ENST00000328528.6_Silent_p.G173G|MITF_ENST00000352241.4_Silent_p.G174G|MITF_ENST00000531774.1_Intron|MITF_ENST00000314589.5_Silent_p.G158G|MITF_ENST00000314557.6_Silent_p.G67G|MITF_ENST00000472437.1_Silent_p.G122G|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394351.3_Silent_p.G67G			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	174					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|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 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)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CGGTGCCGGGGAGCAGCGCAC	0.498			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)			Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0													90	79	83					3																	69987140		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.522G>T	3.37:g.69987140G>T			B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G174	ENST00000448226.2	37	c.522		3																																																																																			MITF	-	NULL	ENSG00000187098		0.498	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	MITF	HGNC	protein_coding	OTTHUMT00000313947.1	-	0	45	0	G	NM_198159		69987140	1	tier1	-	no_errors	ENST00000448226	ensembl	human	known	74_37	silent	12.50	28	4	SNP	1.000	T	T	69987140	G	T	69987140	2	4	156	1	0	0	0	0	0	0	0	1	9634	1161	41	3		3	MITF	3	69987140	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	17464919	69987140	128035290	38	39698											
DZIP3	9666	genome.wustl.edu	37	chr3	108363103	108363103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacattgttcgacaaataTttgatgaggctatgccacct	11	13	8	9	1	0	3	0	3	0	0	1	4	0	3	2	1	1	2	2	1	3	5	rs201610955		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr3:108363103T>C	ENST00000361582.3	+	14	1464	c.1234T>C	c.(1234-1236)Ttt>Ctt	p.F412L	DZIP3_ENST00000463306.1_Missense_Mutation_p.F412L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	412					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						TCGACAAATATTTGATGAGGC	0.333																																																	0													77	80	79					3																	108363103		2203	4300	6503	SO:0001583	missense	0			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.1234T>C	3.37:g.108363103T>C	ENSP00000355028:p.Phe412Leu		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.F412L	ENST00000361582.3	37	c.1234	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	T	14.46	2.542317	0.45280	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.43688	0.94;0.94;0.94	4.95	3.71	0.42584	.	0.258207	0.28135	N	0.016463	T	0.35158	0.0922	N	0.19112	0.55	0.30468	N	0.773625	D;P	0.56287	0.975;0.787	P;B	0.53102	0.718;0.351	T	0.19192	-1.0313	10	0.41790	T	0.15	-16.6286	7.5091	0.27562	0.1911:0.0:0.0:0.8089	.	412;412	C9J9M8;Q86Y13	.;DZIP3_HUMAN	L	412	ENSP00000355028:F412L;ENSP00000418115:F412L;ENSP00000419981:F412L	ENSP00000355028:F412L	F	+	1	0	DZIP3	109845793	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.953000	0.40352	2.199000	0.70637	0.533000	0.62120	TTT	DZIP3	-	NULL	ENSG00000198919		0.333	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	-	0	36	0	T	NM_014648		108363103	1	tier1	-	no_errors	ENST00000361582	ensembl	human	known	74_37	missense	15.52	98	18	SNP	1.000	C	C	108363103	T	C	108363103	3	2	156	1	0	0	0	0	1	0	0	0	4879	1493	52	4	1284	4	DZIP3	3	108363103	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	38375963	108363103	89659327	39	39699											
PLXNA1	5361	genome.wustl.edu	37	chr3	126748339	126748339	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagacgtccgcctacaacatCtccaactcctccaccttcac	10	8	3	20	2	2	1	1	0	1	1	6	1	5	1	6	0	3	0	6	0	3	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr3:126748339C>T	ENST00000393409.2	+	26	4830	c.4830C>T	c.(4828-4830)atC>atT	p.I1610I	PLXNA1_ENST00000251772.4_Silent_p.I1587I	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1610					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)		CCTACAACATCTCCAACTCCT	0.672																																																	0													140	130	134					3																	126748339		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4830C>T	3.37:g.126748339C>T				Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.I1610	ENST00000393409.2	37	c.4830	CCDS33847.2	3																																																																																			PLXNA1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000114554		0.672	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	-	0	48	0	C	NM_032242		126748339	1	tier1	-	no_errors	ENST00000393409	ensembl	human	known	74_37	silent	12.61	97	14	SNP	1.000	T	T	126748339	C	T	126748339	2	4	156	1	0	0	0	0	0	0	0	1	12158	903	32	3		3	PLXNA1	3	126748339	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	18385236	126748339	71274091	40	39700											
ZIC4	84107	genome.wustl.edu	37	chr3	147120551	147120551	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttcggtaaagccgtaatcGtttcctcatcaccaaggatg	10	12	9	10	3	2	0	2	0	0	0	5	1	3	1	3	2	1	4	3	2	4	4	rs201698839		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr3:147120551G>A	ENST00000383075.3	-	2	546	c.34C>T	c.(34-36)Cga>Tga	p.R12*	ZIC4_ENST00000491672.1_Nonsense_Mutation_p.R12*|ZIC4_ENST00000473123.1_Nonsense_Mutation_p.R12*|ZIC4_ENST00000425731.3_Nonsense_Mutation_p.R50*|ZIC4_ENST00000484399.1_Nonsense_Mutation_p.R12*|ZIC4_ENST00000525172.2_Nonsense_Mutation_p.R62*	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	12						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R12*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCCGTAATCGTTTCCTCATC	0.358																																																	1	Substitution - Nonsense(1)	large_intestine(1)						G	stop/ARG,stop/ARG,stop/ARG	0,3748		0,0,1874	161	147	151		184,148,34	4.1	1	3		151	2,8192		0,2,4095	yes	stop-gained,stop-gained,stop-gained	ZIC4	NM_001168378.1,NM_001168379.1,NM_032153.5	,,	0,2,5969	AA,AG,GG		0.0244,0.0,0.0167	,,	62/385,50/373,12/335	147120551	2,11940	1874	4097	5971	SO:0001587	stop_gained	0			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.34C>T	3.37:g.147120551G>A	ENSP00000372553:p.Arg12*		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R62*	ENST00000383075.3	37	c.184	CCDS43160.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.583642	0.96578	0.0	2.44E-4	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672;ENST00000462748;ENST00000484586;ENST00000463250	.	.	.	6.06	4.09	0.47781	.	0.000000	0.36591	N	0.002501	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7516	0.57312	0.0:0.0:0.4131:0.5869	.	.	.	.	X	12;50;62;12;12;12;12;12;12	.	ENSP00000372553:R12X	R	-	1	2	ZIC4	148603241	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.399000	0.34566	1.532000	0.49169	0.655000	0.94253	CGA	ZIC4	-	NULL	ENSG00000174963		0.358	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1	-	0	83	0	G			147120551	-1	tier1	rs201698839	no_errors	ENST00000525172	ensembl	human	known	74_37	nonsense	10.78	207	25	SNP	1.000	A	A	147120551	G	A	147120551	4	1	156	1	0	0	0	0	0	1	0	0	17729	1153	40	1	986	1	ZIC4	3	147120551	Nonsense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	20372212	147120551	50901879	41	39701											
SMC4	10051	genome.wustl.edu	37	chr3	160149603	160149603	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcggtgccatcgcagagtAtaaaaagaaggtatgaatga	15	8	11	7	2	0	4	0	2	0	2	2	4	0	4	2	2	1	3	2	2	7	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr3:160149603A>G	ENST00000357388.3	+	21	3738	c.3287A>G	c.(3286-3288)tAt>tGt	p.Y1096C	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.Y1038C|SMC4_ENST00000360111.2_Missense_Mutation_p.Y1038C|SMC4_ENST00000469762.1_Missense_Mutation_p.Y1071C|SMC4_ENST00000344722.5_Missense_Mutation_p.Y1096C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1096					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATCGCAGAGTATAAAAAGAAG	0.358																																																	0													65	71	69					3																	160149603		2203	4300	6503	SO:0001583	missense	0			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3287A>G	3.37:g.160149603A>G	ENSP00000349961:p.Tyr1096Cys		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.Y1096C	ENST00000357388.3	37	c.3287	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	A	19.70	3.877197	0.72294	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.78816	-1.2;-1.21;-1.18;-1.21;-1.2	6.06	4.87	0.63330	RecF/RecN/SMC (1);	0.109652	0.64402	D	0.000004	D	0.90683	0.7077	H	0.94462	3.54	0.58432	D	0.999997	D;D;D;D	0.89917	0.996;1.0;0.999;1.0	D;D;D;D	0.87578	0.937;0.998;0.964;0.974	D	0.92172	0.5744	10	0.87932	D	0	-8.4388	12.5071	0.55987	0.8747:0.0:0.0:0.1252	.	1038;1071;1071;1096	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	C	1096;1038;1071;1038;1096;690	ENSP00000349961:Y1096C;ENSP00000353225:Y1038C;ENSP00000417964:Y1071C;ENSP00000420734:Y1038C;ENSP00000341382:Y1096C	ENSP00000341382:Y1096C	Y	+	2	0	SMC4	161632297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.777000	0.68931	1.054000	0.40438	0.533000	0.62120	TAT	SMC4	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000113810		0.358	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	-	0	70	0	A			160149603	1	tier1	-	no_errors	ENST00000344722	ensembl	human	known	74_37	missense	76.68	45	148	SNP	1.000	G	G	160149603	A	G	160149603	3	3	156	1	0	0	0	0	1	0	0	0	14830	449	16	4	3365	4	SMC4	3	160149603	Missense_Mutation	SNP	A	TCGA-V5-A7RC-01B-11D-A403-09	13029052	160149603	37872827	42	39702											
PHC3	80012	genome.wustl.edu	37	chr3	169866908	169866908	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gatacatttgagcttggcttGccgttagggtaggggaagta	9	12	15	5	1	0	1	0	1	0	0	0	3	0	2	1	4	3	5	1	4	5	7			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr3:169866908G>A	ENST00000494943.1	-	5	571	c.503C>T	c.(502-504)gCa>gTa	p.A168V	RNU6-315P_ENST00000362666.1_RNA|PHC3_ENST00000467570.1_Intron|PHC3_ENST00000474275.1_Missense_Mutation_p.A164V|PHC3_ENST00000495893.2_Missense_Mutation_p.A180V			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	168	Ser-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGCTTGGCTTGCCGTTAGGGT	0.433																																																	0													77	73	74					3																	169866908		1859	4117	5976	SO:0001583	missense	0				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.503C>T	3.37:g.169866908G>A	ENSP00000420271:p.Ala168Val		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.A180V	ENST00000494943.1	37	c.539		3	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970286	0.92919	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000475729;ENST00000474275	T;T	0.37915	1.17;1.19	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.71674	0.99;0.998;0.994;0.994	P;D;D;D	0.76071	0.868;0.987;0.938;0.938	T	0.57010	-0.7884	9	.	.	.	-14.6372	19.7398	0.96223	0.0:0.0:1.0:0.0	.	168;164;180;180	Q8NDX5;Q8NDX5-4;Q8NDX5-3;Q8NDX5-7	PHC3_HUMAN;.;.;.	V	168;180;180;164	ENSP00000420271:A168V;ENSP00000420294:A180V	.	A	-	2	0	PHC3	171349602	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.231000	0.78106	2.660000	0.90430	0.655000	0.94253	GCA	PHC3	-	NULL	ENSG00000173889		0.433	PHC3-004	KNOWN	basic	protein_coding	PHC3	HGNC	protein_coding	OTTHUMT00000352182.3	-	0	124	0	G	NM_024947		169866908	-1	tier1	-	no_errors	ENST00000495893	ensembl	human	known	74_37	missense	68.62	102	223	SNP	1.000	A	A	169866908	G	A	169866908	3	1	156	1	0	0	0	0	1	0	0	0	11857	1319	46	3	2492	3	PHC3	3	169866908	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	9717305	169866908	28155522	43	39703											
NAALADL2	254827	genome.wustl.edu	37	chr3	175293940	175293940	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcttggagttcccatcGtgcagtttgcttacgaggac	8	12	10	11	2	1	0	0	0	1	0	3	3	2	2	2	2	3	4	2	2	1	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr3:175293940G>C	ENST00000454872.1	+	10	1893	c.1765G>C	c.(1765-1767)Gtg>Ctg	p.V589L	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	589						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)		AGTTCCCATCGTGCAGTTTGC	0.393																																																	0													156	151	153					3																	175293940		1884	4119	6003	SO:0001583	missense	0				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.1765G>C	3.37:g.175293940G>C	ENSP00000404705:p.Val589Leu		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.V589L	ENST00000454872.1	37	c.1765	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	8.424	0.847073	0.17034	.	.	ENSG00000177694	ENST00000454872	T	0.36520	1.25	6.08	3.19	0.36642	Peptidase M28 (1);	0.320980	0.29995	N	0.010678	T	0.19127	0.0459	N	0.20401	0.57	0.09310	N	0.999999	B	0.11235	0.004	B	0.17979	0.02	T	0.18808	-1.0325	10	0.11794	T	0.64	-11.549	7.3788	0.26843	0.0723:0.3259:0.4994:0.1024	.	589	Q58DX5	NADL2_HUMAN	L	589	ENSP00000404705:V589L	ENSP00000404705:V589L	V	+	1	0	NAALADL2	176776634	0.206000	0.23470	0.926000	0.36857	0.943000	0.58893	0.463000	0.21972	1.572000	0.49736	0.655000	0.94253	GTG	NAALADL2	-	NULL	ENSG00000177694		0.393	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	-	0	86	0	G	NM_207015		175293940	1	tier1	-	no_errors	ENST00000454872	ensembl	human	known	74_37	missense	5.85	161	10	SNP	0.153	C	C	175293940	G	C	175293940	3	2	156	1	0	0	0	0	1	0	0	0	10168	1145	40	5	1803	5	NAALADL2	3	175293940	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	5427032	175293940	22728490	44	39704											
THPO	7066	genome.wustl.edu	37	chr3	184093777	184093777	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgttagccttgcagttaGgagaagcatgaccacgagga	12	7	13	9	2	0	2	0	1	0	1	0	5	0	3	2	2	4	4	2	2	3	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr3:184093777G>C	ENST00000204615.7	-	3	254	c.40C>G	c.(40-42)Cta>Gta	p.L14V	THPO_ENST00000477594.1_5'Flank|THPO_ENST00000421442.2_Missense_Mutation_p.L14V|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.L14V	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	14			L -> P (in dbSNP:rs1042346).		blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTTGCAGTTAGGAGAAGCATG	0.512																																																	0													114	100	105					3																	184093777		2203	4300	6503	SO:0001583	missense	0				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.40C>G	3.37:g.184093777G>C	ENSP00000204615:p.Leu14Val		A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	p.L14V	ENST00000204615.7	37	c.40	CCDS3265.1	3	.	.	.	.	.	.	.	.	.	.	G	9.661	1.144252	0.21205	.	.	ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000421442;ENST00000353488	T;T;T	0.35048	1.36;1.33;1.36	4.19	3.3	0.37823	.	0.456574	0.16222	N	0.223982	T	0.25791	0.0628	L	0.27053	0.805	0.09310	N	0.999996	P;B;B;P;P;P	0.45957	0.793;0.346;0.235;0.869;0.869;0.793	B;B;B;B;P;B	0.44477	0.207;0.142;0.067;0.375;0.451;0.264	T	0.06127	-1.0844	10	0.12430	T	0.62	.	9.9829	0.41824	0.0:0.2049:0.7951:0.0	.	14;14;14;14;14;14	Q5FBX4;P40225-3;Q5FBX8;F8W6L1;P40225-2;P40225	.;.;.;.;.;TPO_HUMAN	V	14	ENSP00000204615:L14V;ENSP00000410763:L14V;ENSP00000411704:L14V	ENSP00000204615:L14V	L	-	1	2	THPO	185576471	1.000000	0.71417	0.603000	0.28903	0.954000	0.61252	1.761000	0.38440	0.942000	0.37525	0.467000	0.42956	CTA	THPO	-	pfam_EPO_TPO	ENSG00000090534		0.512	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THPO	HGNC	protein_coding	OTTHUMT00000345554.1	-	0	40	0	G	NM_000460		184093777	-1	tier1	-	no_errors	ENST00000204615	ensembl	human	known	74_37	missense	5.39	158	9	SNP	0.488	C	C	184093777	G	C	184093777	3	2	156	1	0	0	0	0	1	0	0	0	15919	991	35	5	1037	5	THPO	3	184093777	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	8799837	184093777	13928653	45	39705											
WHSC1	7468	genome.wustl.edu	37	chr4	1961467	1961467	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaagagggacatcagaaaGgtatgtgtcgttatcccctc	11	9	11	10	1	1	2	1	0	0	2	4	3	2	3	3	2	0	2	3	2	4	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr4:1961467G>T	ENST00000382895.3	+	19	3686	c.3255G>T	c.(3253-3255)aaG>aaT	p.K1085N	WHSC1_ENST00000382891.5_Splice_Site_p.K1085N|WHSC1_ENST00000508803.1_Splice_Site_p.K1085N|WHSC1_ENST00000382892.2_Splice_Site_p.K1085N|WHSC1_ENST00000382888.3_Splice_Site_p.K433N|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1085	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.K1085N(1)		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)		ACATCAGAAAGGTATGTGTCG	0.507			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	1	Substitution - Missense(1)	prostate(1)											75	73	74					4																	1961467		2203	4300	6503	SO:0001630	splice_region_variant	0			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.3255+1G>T	4.37:g.1961467G>T			A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.K1085N	ENST00000382895.3	37	c.3255	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874693	0.72180	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	5.23	4.37	0.52481	SET domain (3);	0.000000	0.56097	D	0.000031	D	0.93357	0.7882	M	0.91140	3.18	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.71656	0.972;0.974	D	0.94574	0.7773	10	0.72032	D	0.01	.	14.5338	0.67944	0.0724:0.0:0.9276:0.0	.	433;1085	A2A2T2;O96028	.;NSD2_HUMAN	N	1085;1085;1085;1085;433	ENSP00000423972:K1085N;ENSP00000372347:K1085N;ENSP00000372348:K1085N;ENSP00000372351:K1085N;ENSP00000372344:K433N	ENSP00000372344:K433N	K	+	3	2	WHSC1	1931265	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.536000	0.67180	1.296000	0.44742	0.655000	0.94253	AAG	WHSC1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000109685		0.507	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2		0	59	0	G	NM_133330	Missense_Mutation	1961467	1			no_errors	ENST00000382891	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	1961467	G	T	1961467	5	4	156	1	0	0	0	0	0	0	1	0	17411	1014	35	3	3393	3	WHSC1	4	1961467	Splice_Site	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09		1961467	189192809	46	39706											
ZFYVE28	57732	genome.wustl.edu	37	chr4	2306902	2306902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgcctgaccgcaggcGcggtctacctggagaggcct	6	7	14	14	3	2	2	1	1	1	1	2	3	2	2	4	4	2	1	4	4	1	1	rs146433050	byFrequency	TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr4:2306902G>T	ENST00000290974.2	-	8	1504	c.1165C>A	c.(1165-1167)Cgc>Agc	p.R389S	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.R359S|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.R319S|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	389					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						GACCGCAGGCGCGGTCTACCT	0.682																																																	0													43	42	42					4																	2306902		2203	4296	6499	SO:0001583	missense	0			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.1165C>A	4.37:g.2306902G>T	ENSP00000290974:p.Arg389Ser		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.R389S	ENST00000290974.2	37	c.1165	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	G	8.276	0.814534	0.16607	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.58940	0.3;0.3;0.3	5.18	0.693	0.18056	.	0.983418	0.08333	N	0.961977	T	0.50922	0.1644	L	0.51422	1.61	0.09310	N	1	B;B	0.30634	0.288;0.19	B;B	0.29524	0.103;0.048	T	0.46978	-0.9152	10	0.66056	D	0.02	.	9.7605	0.40530	0.0:0.1969:0.518:0.2851	.	359;389	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	S	389;359;319	ENSP00000290974:R389S;ENSP00000425706:R359S;ENSP00000426299:R319S	ENSP00000290974:R389S	R	-	1	0	ZFYVE28	2276700	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.289000	0.08365	0.175000	0.19841	0.405000	0.27470	CGC	ZFYVE28	-	NULL	ENSG00000159733		0.682	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1		0	54	0	G	XM_035371		2306902	-1			no_errors	ENST00000290974	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T	T	2306902	G	T	2306902	3	4	156	1	0	0	0	0	1	0	0	0	17718	1087	38	2	1522	2	ZFYVE28	4	2306902	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	345435	2306902	188847374	47	39707											
JAKMIP1	152789	genome.wustl.edu	37	chr4	6086661	6086661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaatttttagttgaaatCgcctcacatctcgctcgtcc	9	13	6	13	3	2	1	1	1	1	0	6	1	3	1	2	0	1	3	2	0	3	4	rs371853673		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr4:6086661C>T	ENST00000282924.5	-	5	1351	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R289Q|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R124Q|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R124Q|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R289Q|JAKMIP1_ENST00000457227.2_5'UTR	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	289	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.R289Q(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGTTGAAATCGCCTCACATC	0.383																																																	2	Substitution - Missense(2)	large_intestine(2)						C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	207	196	200		866,866	4.8	1	4		200	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	JAKMIP1	NM_001099433.1,NM_144720.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	289/832,289/627	6086661	1,13005	2203	4300	6503	SO:0001583	missense	0			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.866G>A	4.37:g.6086661C>T	ENSP00000282924:p.Arg289Gln		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	NULL	p.R289Q	ENST00000282924.5	37	c.866	CCDS3385.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.169452	0.94768	0.0	1.16E-4	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.41400	1.41;1.14;1.41;1.41;1.0	4.79	4.79	0.61399	.	0.117591	0.37669	N	0.001986	T	0.65186	0.2667	M	0.77313	2.365	0.45946	D	0.998774	D;D;D;D;D	0.71674	0.998;0.974;0.998;0.998;0.974	D;P;D;D;P	0.75484	0.986;0.455;0.986;0.986;0.455	T	0.70630	-0.4819	10	0.87932	D	0	.	15.0225	0.71640	0.0:1.0:0.0:0.0	.	124;289;124;289;289	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	Q	289;124;289;289;181;289;289;124	ENSP00000386711:R289Q;ENSP00000387042:R124Q;ENSP00000282924:R289Q;ENSP00000386925:R289Q;ENSP00000386745:R124Q	ENSP00000282924:R289Q	R	-	2	0	JAKMIP1	6137562	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.396000	0.79891	2.203000	0.70933	0.591000	0.81541	CGA	JAKMIP1	-	NULL	ENSG00000152969		0.383	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2		0	15	0	C	NM_144720		6086661	-1			no_errors	ENST00000409021	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	T	T	6086661	C	T	6086661	3	4	156	1	0	0	0	0	1	0	0	0	7967	884	31	1	1772	1	JAKMIP1	4	6086661	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	3779759	6086661	185067615	48	39708											
GABRA2	2555	genome.wustl.edu	37	chr4	46252490	46252490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgttttctggcttcttGttgggttctggcgtggttgc	0	19	15	7	1	3	0	0	0	3	0	3	0	3	0	0	5	1	6	0	5	0	8			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr4:46252490G>T	ENST00000510861.1	-	10	1364	c.1191C>A	c.(1189-1191)aaC>aaA	p.N397K	GABRA2_ENST00000540012.1_Missense_Mutation_p.N402K|GABRA2_ENST00000381620.4_Missense_Mutation_p.N397K|GABRA2_ENST00000356504.1_Missense_Mutation_p.N397K|GABRA2_ENST00000507069.1_Missense_Mutation_p.N457K|GABRA2_ENST00000514090.1_Missense_Mutation_p.N397K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	397					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)	CTGGCTTCTTGTTGGGTTCTG	0.428																																																	0													198	200	200					4																	46252490		2203	4299	6502	SO:0001583	missense	0				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.1191C>A	4.37:g.46252490G>T	ENSP00000421828:p.Asn397Lys		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.N402K	ENST00000510861.1	37	c.1206	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	G	5.915	0.352942	0.11182	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.96	4.25	0.50352	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.272290	0.47455	D	0.000240	T	0.70211	0.3198	N	0.14661	0.345	0.46849	D	0.999225	B;B	0.28350	0.208;0.004	B;B	0.30251	0.113;0.015	T	0.62756	-0.6787	10	0.05959	T	0.93	.	11.8856	0.52600	0.14:0.0:0.86:0.0	.	402;397	B7Z1H8;P47869	.;GBRA2_HUMAN	K	397;397;397;397;402;457	ENSP00000421828:N397K;ENSP00000421300:N397K;ENSP00000371033:N397K;ENSP00000348897:N397K;ENSP00000444409:N402K;ENSP00000427603:N457K	ENSP00000348897:N397K	N	-	3	2	GABRA2	45947247	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.114000	0.31196	0.864000	0.35578	0.655000	0.94253	AAC	GABRA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa2_rcpt,tigrfam_Neur_channel	ENSG00000151834		0.428	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	-	0	85	0	G			46252490	-1	tier1	-	no_errors	ENST00000540012	ensembl	human	known	74_37	missense	16.18	57	11	SNP	1.000	T	T	46252490	G	T	46252490	3	4	156	1	0	0	0	0	1	0	0	0	6185	1368	48	3	168	3	GABRA2	4	46252490	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	40165829	46252490	144901786	49	39709											
GABRB1	2560	genome.wustl.edu	37	chr4	47163459	47163459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaatgattcgactgcatcCtgatggaacagttctctatg	10	13	9	9	2	1	2	0	2	1	0	5	5	2	3	1	1	2	2	1	1	3	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr4:47163459C>A	ENST00000295454.3	+	4	726	c.434C>A	c.(433-435)cCt>cAt	p.P145H	GABRB1_ENST00000538619.1_Missense_Mutation_p.P75H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	145					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)	CGACTGCATCCTGATGGAACA	0.398																																																	0													145	133	137					4																	47163459		2203	4300	6503	SO:0001583	missense	0				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.434C>A	4.37:g.47163459C>A	ENSP00000295454:p.Pro145His		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.P145H	ENST00000295454.3	37	c.434	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848803	0.71603	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	T;T;T	0.77877	-1.13;-1.13;-1.13	4.8	3.96	0.45880	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000002	D	0.82944	0.5147	L	0.56340	1.77	0.52099	D	0.99994	P;D	0.57571	0.95;0.98	P;P	0.61592	0.712;0.891	T	0.82657	-0.0349	10	0.41790	T	0.15	-6.372	14.4273	0.67225	0.0:0.852:0.148:0.0	.	75;145	F5GXV5;P18505	.;GBRB1_HUMAN	H	112;145;75	ENSP00000426753:P112H;ENSP00000295454:P145H;ENSP00000440330:P75H	ENSP00000295454:P145H	P	+	2	0	GABRB1	46858216	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.647000	0.83462	1.221000	0.43506	0.555000	0.69702	CCT	GABRB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000163288		0.398	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	-	0	64	0	C			47163459	1	tier1	-	no_errors	ENST00000295454	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	A	A	47163459	C	A	47163459	3	1	156	1	0	0	0	0	1	0	0	0	6190	681	24	3	448	3	GABRB1	4	47163459	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	910969	47163459	143990817	50	39710											
UTP3	57050	genome.wustl.edu	37	chr4	71554872	71554874	+	In_Frame_Del	DEL	GAG	GAG	-																															aggcagaggaggaggaaagaGaggaggaggaggaggcacag																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr4:71554872_71554874delGAG	ENST00000254803.2	+	1	677_679	c.478_480delGAG	c.(478-480)gagdel	p.E164del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	164	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggaaagagaggaggaggagg	0.552																																																	0										25,4241		1,23,2109						-7.6	0.8			35	22,8232		0,22,4105	no	coding	UTP3	NM_020368.2		1,45,6214	A1A1,A1R,RR		0.2665,0.586,0.3754				47,12473				SO:0001651	inframe_deletion	0			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.478_480delGAG	4.37:g.71554881_71554883delGAG	ENSP00000254803:p.Glu164del		Q6FI82	In_Frame_Del	DEL	pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D	p.E163in_frame_del	ENST00000254803.2	37	c.478_480	CCDS3546.1	4																																																																																			UTP3	-	NULL	ENSG00000132467		0.552	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP3	HGNC	protein_coding	OTTHUMT00000252163.2		0	27	0	GAG	NM_020368		71554874	1	tier1		no_errors	ENST00000254803	ensembl	human	known	74_37	in_frame_del	6.67	28	2	DEL	1.000:1.000:1.000	-	-	71554874	GAG	-	71554872	7	5	156	1	0	1	0	1	0	0	0	0	17150	943	33	0	480	0	UTP3	4	71554872	In_Frame_Del	DEL	GAG	TCGA-V5-A7RC-01B-11D-A403-09	24391413	71554872	119599404	51	39711											
AFF1	4299	genome.wustl.edu	37	chr4	88048211	88048211	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atactgcaaatccttttccaGtgccttctttgccaaatggt	9	15	6	11	0	1	0	0	0	1	0	3	0	3	0	4	1	4	1	4	1	3	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr4:88048211G>T	ENST00000307808.6	+	14	3244	c.2824G>T	c.(2824-2826)Gtg>Ttg	p.V942L	AFF1_ENST00000395146.4_Missense_Mutation_p.V949L|AFF1_ENST00000544085.1_Missense_Mutation_p.V580L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	942					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)		TCCTTTTCCAGTGCCTTCTTT	0.368																																																	0													135	140	138					4																	88048211		2203	4300	6503	SO:0001583	missense	0			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.2824G>T	4.37:g.88048211G>T	ENSP00000305689:p.Val942Leu		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.V949L	ENST00000307808.6	37	c.2845	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512641	0.44660	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.63744	-0.06;-0.06;-0.06	5.4	5.4	0.78164	.	0.000000	0.56097	D	0.000036	T	0.74665	0.3746	L	0.58428	1.81	0.48632	D	0.999686	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.67933	-0.5542	10	0.10902	T	0.67	-19.3858	18.8	0.92013	0.0:0.0:1.0:0.0	.	949;942;942	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	L	949;942;580	ENSP00000378578:V949L;ENSP00000305689:V942L;ENSP00000440843:V580L	ENSP00000305689:V942L	V	+	1	0	AFF1	88267235	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	5.132000	0.64758	2.527000	0.85204	0.563000	0.77884	GTG	AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.368	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	-	0	61	0	G	NM_005935		88048211	1	tier1	-	no_errors	ENST00000395146	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	88048211	G	T	88048211	3	4	156	1	0	0	0	0	1	0	0	0	356	1029	36	3	2920	3	AFF1	4	88048211	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	16493339	88048211	103106065	52	39712											
FAT1	2195	genome.wustl.edu	37	chr4	187541543	187541545	+	In_Frame_Del	DEL	ACA	ACA	-																															cttctacaatgaccttcacgAcaacgtgggccactgcagaa																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	ACA	ACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr4:187541543_187541545delACA	ENST00000441802.2	-	10	6404_6406	c.6195_6197delTGT	c.(6193-6198)gttgtc>gtc	p.2065_2066VV>V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2065	Cadherin 18. {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						GACCTTCACGACAACGTGGGCCA	0.517										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0																																										SO:0001651	inframe_deletion	0			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.6195_6197delTGT	4.37:g.187541543_187541545delACA	ENSP00000406229:p.Val2067del			In_Frame_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.V2067in_frame_del	ENST00000441802.2	37	c.6197_6195	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.517	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3		0	38	0	ACA	NM_005245		187541545	-1	tier1		no_errors	ENST00000441802	ensembl	human	known	74_37	in_frame_del	37.14	22	13	DEL	0.354:0.256:0.073	-	-	187541545	ACA	-	187541543	7	5	156	1	0	1	0	1	0	0	0	0	5711	275	10	0	7641	0	FAT1	4	187541543	In_Frame_Del	DEL	ACA	TCGA-V5-A7RC-01B-11D-A403-09	99493332	187541543	3612733	53	39713											
SLC12A7	10723	genome.wustl.edu	37	chr5	1093658	1093658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagtaccttggcctccCgccgccggctctcctcgtcc	2	9	11	19	4	1	0	0	0	1	0	5	0	3	0	7	3	1	3	7	3	1	2	rs562501613		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:1093658C>G	ENST00000264930.5	-	3	375	c.332G>C	c.(331-333)cGg>cCg	p.R111P		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	111					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)	CTTGGCCTCCCGCCGCCGGCT	0.662																																																	0													67	47	54					5																	1093658		2185	4289	6474	SO:0001583	missense	0			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.332G>C	5.37:g.1093658C>G	ENSP00000264930:p.Arg111Pro		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.R111P	ENST00000264930.5	37	c.332	CCDS34129.1	5	.	.	.	.	.	.	.	.	.	.	C	3.909	-0.020394	0.07634	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.84800	-1.9	3.86	1.57	0.23409	.	0.437879	0.21556	N	0.072652	T	0.67942	0.2947	N	0.19112	0.55	0.09310	N	1	P	0.36199	0.543	B	0.34301	0.179	T	0.56347	-0.7994	10	0.15066	T	0.55	.	6.1389	0.20249	0.0:0.6289:0.0:0.3711	.	111	Q9Y666	S12A7_HUMAN	P	111	ENSP00000264930:R111P	ENSP00000264930:R111P	R	-	2	0	SLC12A7	1146658	0.000000	0.05858	0.022000	0.16811	0.029000	0.11900	0.545000	0.23268	0.757000	0.33036	0.455000	0.32223	CGG	SLC12A7	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000113504		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	-	0	31	0	C	NM_006598		1093658	-1	tier1	-	no_errors	ENST00000264930	ensembl	human	known	74_37	missense	18.60	35	8	SNP	0.059	G	G	1093658	C	G	1093658	3	3	156	1	0	0	0	0	1	0	0	0	14433	652	23	5	3007	5	SLC12A7	5	1093658	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09		1093658	179821602	54	39714											
DNAH5	1767	genome.wustl.edu	37	chr5	13793634	13793634	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgatctttaccaaagatcttGtccacagaagcttcagaggg	12	11	9	9	0	3	4	1	1	2	3	4	4	4	4	2	1	2	1	2	1	3	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:13793634G>T	ENST00000265104.4	-	49	8318	c.8214C>A	c.(8212-8214)gaC>gaA	p.D2738E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2738	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2738E(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAGATCTTGTCCACAGAAG	0.478									Kartagener syndrome																																								1	Substitution - Missense(1)	lung(1)											108	112	111					5																	13793634		2203	4300	6503	SO:0001583	missense	0	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.8214C>A	5.37:g.13793634G>T	ENSP00000265104:p.Asp2738Glu		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D2738E	ENST00000265104.4	37	c.8214	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226298	0.79576	.	.	ENSG00000039139	ENST00000265104	T	0.34859	1.34	5.88	5.88	0.94601	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.77103	2.36	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	T	0.63699	-0.6578	10	0.59425	D	0.04	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	2738	Q8TE73	DYH5_HUMAN	E	2738	ENSP00000265104:D2738E	ENSP00000265104:D2738E	D	-	3	2	DNAH5	13846634	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	2.648000	0.46647	2.792000	0.96026	0.557000	0.71058	GAC	DNAH5	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000039139		0.478	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0	35	0	G	NM_001369		13793634	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	13793634	G	T	13793634	3	4	156	1	0	0	0	0	1	0	0	0	4618	1368	48	3	5784	3	DNAH5	5	13793634	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	12699976	13793634	167121626	55	39715											
CDH9	1007	genome.wustl.edu	37	chr5	26988213	26988213	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatacaaaaattcttacCttgcctacatattgtgtgtc	11	16	4	10	0	2	0	1	0	2	0	4	0	2	0	2	0	4	0	2	0	6	7			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:26988213C>A	ENST00000231021.4	-	2	400	c.228G>T	c.(226-228)aaG>aaT	p.K76N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	76	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						AAATTCTTACCTTGCCTACAT	0.348																																					Melanoma(8;187 585 15745 40864 52829)												0													62	60	61					5																	26988213		2203	4300	6503	SO:0001630	splice_region_variant	0			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.228+1G>T	5.37:g.26988213C>A			Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K76N	ENST00000231021.4	37	c.228	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813034	0.70912	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.52526	0.66;0.66;1.22	5.64	5.64	0.86602	Cadherin (2);Cadherin-like (1);	0.049791	0.85682	D	0.000000	T	0.76140	0.3946	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.81914	0.995;0.97	T	0.81113	-0.1080	9	.	.	.	.	18.2526	0.90009	0.0:1.0:0.0:0.0	.	76;76	E7EPN0;Q9ULB4	.;CADH9_HUMAN	N	76	ENSP00000231021:K76N;ENSP00000426239:K76N;ENSP00000422538:K76N	.	K	-	3	2	CDH9	27023970	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.447000	0.80620	2.652000	0.90054	0.591000	0.81541	AAG	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin	ENSG00000113100		0.348	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0	67	0	C	NM_016279	Missense_Mutation	26988213	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A	A	26988213	C	A	26988213	5	1	156	1	0	0	0	0	0	0	1	0	3124	695	24	3	2185	3	CDH9	5	26988213	Splice_Site	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	13194579	26988213	153927047	56	39716											
ISL1	3670	genome.wustl.edu	37	chr5	50689371	50689371	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gggctctaattccactggcaGtgaagtagcatcaatgtcct	10	11	10	10	0	2	1	1	1	1	0	4	1	4	1	2	2	1	4	2	2	4	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:50689371G>T	ENST00000230658.7	+	6	1562	c.977G>T	c.(976-978)aGt>aTt	p.S326I	ISL1_ENST00000511384.1_Missense_Mutation_p.S303I	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	326	Gln-rich.				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)				TCCACTGGCAGTGAAGTAGCA	0.398																																																	0													106	104	104					5																	50689371		1882	4098	5980	SO:0001583	missense	0			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.977G>T	5.37:g.50689371G>T	ENSP00000230658:p.Ser326Ile		P20663|P47894	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.S326I	ENST00000230658.7	37	c.977	CCDS43314.1	5	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818267	0.71028	.	.	ENSG00000016082	ENST00000230658;ENST00000511384	D;D	0.86230	-2.09;-2.02	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.93478	0.7919	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.93254	0.6637	10	0.66056	D	0.02	.	20.2009	0.98259	0.0:0.0:1.0:0.0	.	326	P61371	ISL1_HUMAN	I	326;303	ENSP00000230658:S326I;ENSP00000422676:S303I	ENSP00000230658:S326I	S	+	2	0	ISL1	50725128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.796000	0.99103	2.767000	0.95098	0.591000	0.81541	AGT	ISL1	-	NULL	ENSG00000016082		0.398	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL1	HGNC	protein_coding	OTTHUMT00000368413.3	-	0	57	0	G	NM_002202		50689371	1	tier1	-	no_errors	ENST00000230658	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	T	T	50689371	G	T	50689371	3	4	156	1	0	0	0	0	1	0	0	0	7883	1029	36	3	999	3	ISL1	5	50689371	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	23701158	50689371	130225889	57	39717											
GFM2	84340	genome.wustl.edu	37	chr5	74021855	74021855	+	Missense_Mutation	SNP	T	T	A	0	1	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	tactttcagcatactcaaacTcaatcacaggcataacagat	16	10	4	11	0	4	1	4	0	0	1	4	1	4	1	0	1	5	2	0	1	5	4	rs145997856		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:74021855T>A	ENST00000296805.3	-	18	2280	c.1823A>T	c.(1822-1824)gAg>gTg	p.E608V	GFM2_ENST00000345239.2_Missense_Mutation_p.E561V|RNU6-658P_ENST00000384606.1_RNA|GFM2_ENST00000509430.1_Missense_Mutation_p.E608V|GFM2_ENST00000515125.1_5'UTR	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ATACTCAAACTCAATCACAGG	0.418																																																	0													124	127	126					5																	74021855		2203	4300	6503	SO:0001583	missense	0			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1823A>T	5.37:g.74021855T>A	ENSP00000296805:p.Glu608Val			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_EFG_III-V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.E608V	ENST00000296805.3	37	c.1823	CCDS4023.1	5	.	.	.	.	.	.	.	.	.	.	-	0.827	-0.746541	0.03065	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.45276	0.9;0.9;0.9	.	.	.	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.349225	0.33309	N	0.005048	T	0.23688	0.0573	N	0.14661	0.345	0.09310	N	1	B;.;B	0.31752	0.0;.;0.338	B;.;B	0.36030	0.009;.;0.216	T	0.16512	-1.0400	8	0.87932	D	0	.	.	.	.	.	608;561;608	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	V	608;561;608	ENSP00000296805:E608V;ENSP00000296804:E561V;ENSP00000427004:E608V	ENSP00000296805:E608V	E	-	2	0	GFM2	74057611	0.640000	0.27243	0.005000	0.12908	0.054000	0.15201	0.784000	0.26816	0.000000	0.14550	0.000000	0.15137	GAG	GFM2	-	pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV	ENSG00000164347		0.418	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM2	HGNC	protein_coding	OTTHUMT00000219860.2		0	19	0	T	NM_032380		74021855	-1			no_errors	ENST00000296805	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.021	A	A	74021855	T	A	74021855	3	1	156	1	0	0	0	0	1	0	0	0	6368	1551	54	5	532	5	GFM2	5	74021855	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	23332484	74021855	106893405	58	39718											
HMGCR	3156	genome.wustl.edu	37	chr5	74639790	74639790	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatcaaaatatattttggGtaatagttttacatatttaa	15	18	6	2	0	1	0	1	0	0	0	1	1	1	1	0	2	1	2	0	2	9	11			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:74639790G>C	ENST00000287936.4	+	3	433		c.e3+1		HMGCR_ENST00000343975.5_Splice_Site|HMGCR_ENST00000511206.1_Splice_Site	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase						aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TATATTTTGGGTAATAGTTTT	0.303																																																	0													64	65	64					5																	74639790		2202	4295	6497	SO:0001630	splice_region_variant	0				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.277+1G>C	5.37:g.74639790G>C			B7Z3Y9|Q8N190	Splice_Site	SNP	-	e2+1	ENST00000287936.4	37	c.277+1	CCDS4027.1	5	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535032	0.85812	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000507942	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5562	0.91085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMGCR	74675546	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.837000	0.99465	2.388000	0.81334	0.591000	0.81541	.	HMGCR	-	-	ENSG00000113161		0.303	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCR	HGNC	protein_coding	OTTHUMT00000219877.2	-	0	112	0	G		Intron	74639790	1	tier1	-	no_errors	ENST00000287936	ensembl	human	known	74_37	splice_site	24.24	75	24	SNP	1.000	C	C	74639790	G	C	74639790	5	2	156	1	0	0	0	0	0	0	1	0	7258	1275	44	5	284	5	HMGCR	5	74639790	Splice_Site	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	617935	74639790	106275470	59	39719											
ADAMTS19	171019	genome.wustl.edu	37	chr5	128956349	128956349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgaccacccatcgtgtgCtgatggtcttcatatcatgt	9	13	8	11	1	3	2	2	2	1	0	4	2	3	2	2	1	1	1	2	1	2	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:128956349C>T	ENST00000274487.4	+	9	1644	c.1499C>T	c.(1498-1500)gCt>gTt	p.A500V	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	500	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					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)		CCATCGTGTGCTGATGGTCTT	0.353																																																	0													154	139	144					5																	128956349		2203	4300	6503	SO:0001583	missense	0			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.1499C>T	5.37:g.128956349C>T	ENSP00000274487:p.Ala500Val			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A500V	ENST00000274487.4	37	c.1499	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846334	0.91277	.	.	ENSG00000145808	ENST00000274487	D	0.87256	-2.23	4.51	4.51	0.55191	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.073245	0.53938	D	0.000048	D	0.89280	0.6670	L	0.40543	1.245	0.53688	D	0.999979	D	0.59767	0.986	P	0.60117	0.869	D	0.87679	0.2546	9	.	.	.	.	18.5315	0.90993	0.0:1.0:0.0:0.0	.	500	Q8TE59	ATS19_HUMAN	V	500	ENSP00000274487:A500V	.	A	+	2	0	ADAMTS19	128984248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.935000	0.63498	2.783000	0.95769	0.655000	0.94253	GCT	ADAMTS19	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000145808		0.353	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0	89	0	C	NM_133638		128956349	1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	23.68	58	18	SNP	1.000	T	T	128956349	C	T	128956349	3	4	156	1	0	0	0	0	1	0	0	0	264	797	28	3	1533	3	ADAMTS19	5	128956349	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	54316559	128956349	51958911	60	39720											
PCDHB8	56128	genome.wustl.edu	37	chr5	140559034	140559034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgccctgcacatcggcagCgtcagcgccacagacagaga	10	3	11	17	4	1	2	1	0	0	2	2	3	1	2	3	1	3	2	3	1	0	0	rs113701735		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:140559034C>T	ENST00000239444.2	+	1	1664	c.1419C>T	c.(1417-1419)agC>agT	p.S473S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	473	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S473R(1)		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)			ACATCGGCAGCGTCAGCGCCA	0.662																																																	1	Substitution - Missense(1)	lung(1)											81	123	109					5																	140559034		2203	4294	6497	SO:0001819	synonymous_variant	0			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.1419C>T	5.37:g.140559034C>T			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S473	ENST00000239444.2	37	c.1419	CCDS4250.1	5																																																																																			PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000120322		0.662	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	-	0	143	0	C	NM_019120		140559034	1	tier1	rs113701735	no_errors	ENST00000239444	ensembl	human	known	74_37	silent	23.53	78	24	SNP	0.059	T	T	140559034	C	T	140559034	2	4	156	1	0	0	0	0	0	0	0	1	11587	767	27	1		1	PCDHB8	5	140559034	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	11602685	140559034	40356226	61	39721											
PCDHGA3	56112	genome.wustl.edu	37	chr5	140724052	140724052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaacggttcctggaacccGatttccaattaaaactgctt	12	12	6	11	2	0	0	0	0	0	0	2	2	2	1	3	2	4	2	3	2	5	5	rs267600447		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:140724052G>T	ENST00000253812.6	+	1	452	c.452G>T	c.(451-453)cGa>cTa	p.R151L	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	151	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(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGAACCCGATTTCCAATT	0.383																																																	0													58	56	57					5																	140724052		1859	4107	5966	SO:0001583	missense	0			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.452G>T	5.37:g.140724052G>T	ENSP00000253812:p.Arg151Leu		Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R151L	ENST00000253812.6	37	c.452	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	13.79	2.341228	0.41498	.	.	ENSG00000254245	ENST00000253812	T	0.18657	2.2	5.65	3.84	0.44239	Cadherin (2);Cadherin-like (1);	0.368315	0.15709	U	0.248498	T	0.28532	0.0706	M	0.74881	2.28	0.23568	N	0.997395	P;B	0.39181	0.663;0.103	B;B	0.41088	0.347;0.07	T	0.18429	-1.0337	10	0.87932	D	0	.	9.9398	0.41574	0.2191:0.0:0.7809:0.0	.	151;151	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	L	151	ENSP00000253812:R151L	ENSP00000253812:R151L	R	+	2	0	PCDHGA3	140704236	0.058000	0.20735	1.000000	0.80357	0.922000	0.55478	2.297000	0.43593	1.527000	0.49086	0.655000	0.94253	CGA	PCDHGA3	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000254245		0.383	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	-	0	37	0	G	NM_018916		140724052	1	tier1	-	no_errors	ENST00000253812	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.964	T	T	140724052	G	T	140724052	3	4	156	1	0	0	0	0	1	0	0	0	11594	1058	37	2	454	2	PCDHGA3	5	140724052	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	165018	140724052	40191208	62	39722											
PCDHGB2	56103	genome.wustl.edu	37	chr5	140741236	140741236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgtgagcgcgcagagcGgggtggtgttcgcgcagcgc	4	7	19	11	7	0	2	0	1	0	1	2	2	1	2	1	3	3	3	1	3	0	1	rs536902009		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:140741236G>T	ENST00000522605.1	+	1	1534	c.1534G>T	c.(1534-1536)Ggg>Tgg	p.G512W	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	512	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)			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)			CGCGCAGAGCGGGGTGGTGTT	0.662													.|||	1	0.000199681	8e-04	0	5008	,	,		16854	0		0	False		,,,				2504	0																0													34	37	36					5																	140741236		1993	4165	6158	SO:0001583	missense	0			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.1534G>T	5.37:g.140741236G>T	ENSP00000429018:p.Gly512Trp		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G512W	ENST00000522605.1	37	c.1534	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	15.85	2.953659	0.53293	.	.	ENSG00000253910	ENST00000522605	D	0.91521	-2.86	5.18	5.18	0.71444	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.97682	0.9240	H	0.99197	4.465	0.48830	D	0.999719	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99482	1.0948	9	0.87932	D	0	.	18.6559	0.91453	0.0:0.0:1.0:0.0	.	512;512	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	W	512	ENSP00000429018:G512W	ENSP00000429018:G512W	G	+	1	0	PCDHGB2	140721420	1.000000	0.71417	0.486000	0.27416	0.172000	0.22775	7.887000	0.87295	2.564000	0.86499	0.467000	0.42956	GGG	PCDHGB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253910		0.662	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	-	0	57	0	G	NM_018923		140741236	1	tier1	-	no_errors	ENST00000522605	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	140741236	G	T	140741236	3	4	156	1	0	0	0	0	1	0	0	0	11602	1116	39	2	1536	2	PCDHGB2	5	140741236	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	17184	140741236	40174024	63	39723											
GRXCR2	643226	genome.wustl.edu	37	chr5	145252492	145252492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtactttccggggtttgcCatcactcttctgattcagct	5	16	8	12	2	4	1	2	1	2	0	6	1	5	1	2	2	3	3	2	2	1	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:145252492C>A	ENST00000377976.1	-	1	39	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	14						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CGGGGTTTGCCATCACTCTTC	0.507																																																	0													108	106	107					5																	145252492		2203	4300	6503	SO:0001583	missense	0				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.40G>T	5.37:g.145252492C>A	ENSP00000367214:p.Gly14Cys			Missense_Mutation	SNP	NULL	p.G14C	ENST00000377976.1	37	c.40	CCDS34263.1	5	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525704	0.27299	.	.	ENSG00000204928	ENST00000377976	T	0.56103	0.48	5.73	-1.38	0.09027	.	0.568373	0.20717	N	0.086981	T	0.47710	0.1460	L	0.43152	1.355	0.09310	N	1	P	0.43885	0.82	P	0.46479	0.518	T	0.50381	-0.8835	10	0.56958	D	0.05	-12.8412	12.2074	0.54361	0.0:0.6156:0.0:0.3844	.	14	A6NFK2	GRCR2_HUMAN	C	14	ENSP00000367214:G14C	ENSP00000367214:G14C	G	-	1	0	GRXCR2	145232685	0.006000	0.16342	0.536000	0.28039	0.159000	0.22180	0.011000	0.13264	-0.254000	0.09500	0.655000	0.94253	GGC	GRXCR2	-	NULL	ENSG00000204928		0.507	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	GRXCR2	HGNC	protein_coding	OTTHUMT00000373289.2	-	0	52	0	C			145252492	-1	tier1	-	no_errors	ENST00000377976	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.094	A	A	145252492	C	A	145252492	3	1	156	1	0	0	0	0	1	0	0	0	6840	594	21	3	718	3	GRXCR2	5	145252492	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	4511256	145252492	35662768	64	39724											
POU4F3	5459	genome.wustl.edu	37	chr5	145719454	145719454	+	Missense_Mutation	SNP	T	T	C	0	1	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	cctgggcgccatgggccaccTgcaccaggccatgggcatga	7	5	14	15	1	0	1	0	1	0	0	0	1	0	1	6	4	1	2	6	4	0	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:145719454T>C	ENST00000230732.4	+	2	553	c.464T>C	c.(463-465)cTg>cCg	p.L155P	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	155					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)			ATGGGCCACCTGCACCAGGCC	0.672																																																	0													50	51	50					5																	145719454		2203	4298	6501	SO:0001583	missense	0			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.464T>C	5.37:g.145719454T>C	ENSP00000230732:p.Leu155Pro		O60557|Q2M3F8	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.L155P	ENST00000230732.4	37	c.464	CCDS4281.1	5	.	.	.	.	.	.	.	.	.	.	T	9.282	1.048489	0.19827	.	.	ENSG00000091010	ENST00000230732	D	0.84800	-1.9	4.49	4.49	0.54785	.	0.086843	0.44483	D	0.000442	T	0.81039	0.4740	L	0.55481	1.735	0.80722	D	1	P	0.47910	0.902	B	0.44278	0.445	T	0.77797	-0.2453	10	0.26408	T	0.33	.	8.1568	0.31173	0.0:0.0958:0.0:0.9042	.	155	Q15319	PO4F3_HUMAN	P	155	ENSP00000230732:L155P	ENSP00000230732:L155P	L	+	2	0	POU4F3	145699647	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.722000	0.84778	1.866000	0.54105	0.379000	0.24179	CTG	POU4F3	-	NULL	ENSG00000091010		0.672	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2		0	19	0	T	NM_002700		145719454	1			no_errors	ENST00000230732	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	C	C	145719454	T	C	145719454	3	2	156	1	0	0	0	0	1	0	0	0	12319	1580	55	4	470	4	POU4F3	5	145719454	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	466962	145719454	35195806	65	39725											
ZNF300	91975	genome.wustl.edu	37	chr5	150276160	150276160	+	Missense_Mutation	SNP	T	T	G	0	1	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	attttccacctccaaaactcTgatcaggtttttttcttgaa	10	17	4	10	0	3	2	1	2	2	0	5	2	5	2	3	1	1	1	3	1	3	6			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:150276160T>G	ENST00000274599.5	-	6	1061	c.641A>C	c.(640-642)cAg>cCg	p.Q214P	ZNF300_ENST00000418587.2_Missense_Mutation_p.Q178P|ZNF300_ENST00000446148.2_Missense_Mutation_p.Q230P|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.Q214P	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAAAACTCTGATCAGGTTT	0.338																																																	0													73	77	76					5																	150276160		2203	4296	6499	SO:0001583	missense	0			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.641A>C	5.37:g.150276160T>G	ENSP00000274599:p.Gln214Pro		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q230P	ENST00000274599.5	37	c.689	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	T	1.633	-0.518530	0.04171	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08458	3.16;3.16;3.09;3.17	3.04	3.04	0.35103	.	.	.	.	.	T	0.07052	0.0179	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21690	-1.0238	9	0.72032	D	0.01	.	6.3845	0.21554	0.0:0.0:0.2541:0.7458	.	214	Q96RE9	ZN300_HUMAN	P	230;214;178;214	ENSP00000397178:Q230P;ENSP00000274599:Q214P;ENSP00000392593:Q178P;ENSP00000377773:Q214P	ENSP00000274599:Q214P	Q	-	2	0	ZNF300	150256353	0.238000	0.23825	0.039000	0.18376	0.008000	0.06430	1.451000	0.35145	1.634000	0.50500	0.455000	0.32223	CAG	ZNF300	-	NULL	ENSG00000145908		0.338	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		-	0	74	0	T	NM_052860		150276160	-1	tier1	-	no_errors	ENST00000446148	ensembl	human	known	74_37	missense	28.42	68	27	SNP	0.001	G	G	150276160	T	G	150276160	3	3	156	1	0	0	0	0	1	0	0	0	17879	1580	55	4	1177	4	ZNF300	5	150276160	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	4556706	150276160	30639100	66	39726											
FAT2	2196	genome.wustl.edu	37	chr5	150946899	150946899	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctgatgctcttacccGgaaggtataaattcttttca	10	14	7	10	1	4	1	1	1	3	0	4	2	4	2	2	2	2	2	2	2	5	6			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:150946899G>T	ENST00000261800.5	-	1	1606	c.1594C>A	c.(1594-1596)Cgg>Agg	p.R532R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	532	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R532W(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTCTTACCCGGAAGGTATAA	0.463																																																	1	Substitution - Missense(1)	lung(1)											58	66	63					5																	150946899		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1594C>A	5.37:g.150946899G>T			O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R532	ENST00000261800.5	37	c.1594	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1		0	62	0	G	NM_001447		150946899	-1			no_errors	ENST00000261800	ensembl	human	known	74_37	silent	5.26	54	3	SNP	1.000	T	T	150946899	G	T	150946899	2	4	156	1	0	0	0	0	0	0	0	1	5712	1115	39	2		2	FAT2	5	150946899	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	670739	150946899	29968361	67	39727											
PANK3	79646	genome.wustl.edu	37	chr5	167993055	167993055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttatagttgtctttggaatGgactgctaaaatactgactc	11	16	8	6	0	1	1	0	1	1	0	2	3	1	3	0	2	2	2	0	2	6	7			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:167993055G>T	ENST00000239231.6	-	3	914	c.598C>A	c.(598-600)Cat>Aat	p.H200N	PANK3_ENST00000520504.1_5'UTR	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	200					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			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)		TCTTTGGAATGGACTGCTAAA	0.413																																																	0													158	145	150					5																	167993055		2203	4300	6503	SO:0001583	missense	0			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.598C>A	5.37:g.167993055G>T	ENSP00000239231:p.His200Asn		D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.H200N	ENST00000239231.6	37	c.598	CCDS4368.1	5	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814935	0.32053	.	.	ENSG00000120137	ENST00000239231	D	0.98937	-5.25	4.97	4.97	0.65823	.	0.201330	0.53938	D	0.000053	D	0.93844	0.8031	N	0.04508	-0.205	0.38290	D	0.942678	B	0.02656	0.0	B	0.04013	0.001	D	0.91944	0.5565	10	0.23302	T	0.38	-8.2466	12.3521	0.55155	0.0:0.0:0.8314:0.1686	.	200	Q9H999	PANK3_HUMAN	N	200	ENSP00000239231:H200N	ENSP00000239231:H200N	H	-	1	0	PANK3	167925633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.152000	0.58111	2.277000	0.76020	0.585000	0.79938	CAT	PANK3	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000120137		0.413	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK3	HGNC	protein_coding	OTTHUMT00000252793.2	-	0	70	0	G	NM_024594		167993055	-1	tier1	-	no_errors	ENST00000239231	ensembl	human	known	74_37	missense	8.96	61	6	SNP	1.000	T	T	167993055	G	T	167993055	3	4	156	1	0	0	0	0	1	0	0	0	11457	1348	47	3	534	3	PANK3	5	167993055	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	17046156	167993055	12922205	68	39728											
DOCK2	1794	genome.wustl.edu	37	chr5	169508923	169508923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagccagaccttcctcCaactctcagatggtgacaag	10	8	8	15	0	2	3	2	1	1	2	5	3	4	3	5	1	2	0	5	1	2	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:169508923C>A	ENST00000256935.8	+	51	5445	c.5365C>A	c.(5365-5367)Caa>Aaa	p.Q1789K	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.Q1281K|DOCK2_ENST00000540750.1_Missense_Mutation_p.Q850K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1789					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)			GACCTTCCTCCAACTCTCAGA	0.557																																																	0													110	102	105					5																	169508923		2203	4300	6503	SO:0001583	missense	0			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.5365C>A	5.37:g.169508923C>A	ENSP00000256935:p.Gln1789Lys		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.Q1789K	ENST00000256935.8	37	c.5365	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314412	0.23908	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.07327	3.85;3.49;3.2	4.84	2.85	0.33270	.	0.808908	0.11154	N	0.593786	T	0.03783	0.0107	N	0.08118	0	0.18873	N	0.999985	B;B;B	0.12013	0.001;0.005;0.002	B;B;B	0.09377	0.002;0.004;0.003	T	0.39683	-0.9602	10	0.05959	T	0.93	.	9.0584	0.36419	0.1658:0.6735:0.1608:0.0	.	1281;345;1789	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	K	1789;1281;850	ENSP00000256935:Q1789K;ENSP00000429283:Q1281K;ENSP00000438827:Q850K	ENSP00000256935:Q1789K	Q	+	1	0	DOCK2	169441501	0.000000	0.05858	0.759000	0.31340	0.990000	0.78478	-0.011000	0.12721	1.098000	0.41479	0.655000	0.94253	CAA	DOCK2	-	NULL	ENSG00000134516		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2		0	42	0	C	NM_004946		169508923	1			no_errors	ENST00000256935	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.567	A	A	169508923	C	A	169508923	3	1	156	1	0	0	0	0	1	0	0	0	4701	595	21	3	5567	3	DOCK2	5	169508923	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	1515868	169508923	11406337	69	39729											
LMAN2	10960	genome.wustl.edu	37	chr5	176765576	176765576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gccgtggactttgaagtggaCgtgcatttcccagtctttga	7	13	12	9	2	1	2	0	2	1	0	2	4	2	4	2	2	1	1	2	2	1	3	rs376459001		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr5:176765576C>T	ENST00000303127.7	-	3	550	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Missense_Mutation_p.V116I|RN7SL562P_ENST00000582768.1_RNA	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	116	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TTGAAGTGGACGTGCATTTCC	0.617																																																	0								C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	267	216	233		346	3.2	0.3	5		233	0,8600		0,0,4300	no	missense	LMAN2	NM_006816.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	116/357	176765576	1,13005	2203	4300	6503	SO:0001583	missense	0			U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"chromosome 5 open reading frame 8"	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.346G>A	5.37:g.176765576C>T	ENSP00000303366:p.Val116Ile		Q53HH1	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.V116I	ENST00000303127.7	37	c.346	CCDS4417.1	5	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703622	0.68501	2.27E-4	0.0	ENSG00000169223	ENST00000303127;ENST00000539488;ENST00000515209;ENST00000514458;ENST00000502560;ENST00000513877	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.03	3.21	0.36854	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.059239	0.64402	N	0.000003	T	0.63070	0.2480	M	0.67700	2.07	0.80722	D	1	B;B	0.26363	0.088;0.147	B;B	0.38327	0.129;0.271	T	0.59413	-0.7459	10	0.37606	T	0.19	-6.0838	9.7014	0.40189	0.1409:0.7849:0.0:0.0742	.	116;116	Q12907;D6RBV2	LMAN2_HUMAN;.	I	116;45;116;116;116;45	ENSP00000303366:V116I;ENSP00000423998:V116I;ENSP00000424132:V116I;ENSP00000425229:V116I;ENSP00000427377:V45I	ENSP00000303366:V116I	V	-	1	0	LMAN2	176698182	1.000000	0.71417	0.274000	0.24659	0.787000	0.44495	4.745000	0.62125	0.799000	0.34018	0.591000	0.81541	GTC	LMAN2	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	ENSG00000169223		0.617	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN2	HGNC	protein_coding	OTTHUMT00000253434.1	-	0	34	0	C	NM_006816		176765576	-1	tier1	-	no_errors	ENST00000303127	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.994	T	T	176765576	C	T	176765576	3	4	156	1	0	0	0	0	1	0	0	0	8868	536	19	1	748	1	LMAN2	5	176765576	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	7256653	176765576	4149684	70	39730											
HIST1H2AH	85235	genome.wustl.edu	37	chr6	27114921	27114921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccagtatgtctggacgtgGcaagcaaggcggtaaagctc	11	7	14	9	2	1	0	0	0	1	0	2	2	1	1	1	4	2	5	1	4	5	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr6:27114921G>T	ENST00000377459.1	+	1	61	c.14G>T	c.(13-15)gGc>gTc	p.G5V	HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank|MIR3143_ENST00000584253.1_RNA	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	5						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						TCTGGACGTGGCAAGCAAGGC	0.557																																																	0													67	74	72					6																	27114921		2203	4300	6503	SO:0001583	missense	0			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.14G>T	6.37:g.27114921G>T	ENSP00000366679:p.Gly5Val			Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.G5V	ENST00000377459.1	37	c.14	CCDS4622.1	6	.	.	.	.	.	.	.	.	.	.	G	8.575	0.880995	0.17467	.	.	ENSG00000184825	ENST00000377459	D	0.85629	-2.01	3.95	3.95	0.45737	Histone-fold (2);Histone H2A (1);	0.000000	0.41712	D	0.000824	D	0.91168	0.7218	M	0.90483	3.12	0.80722	D	1	D	0.63046	0.992	P	0.60886	0.88	D	0.92943	0.6374	10	0.87932	D	0	.	14.3093	0.66405	0.0:0.0:1.0:0.0	.	5	Q96KK5	H2A1H_HUMAN	V	5	ENSP00000366679:G5V	ENSP00000366679:G5V	G	+	2	0	HIST1H2AH	27222900	1.000000	0.71417	0.208000	0.23602	0.014000	0.08584	8.519000	0.90563	2.142000	0.66516	0.655000	0.94253	GGC	HIST1H2AH	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000184825		0.557	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AH	HGNC	protein_coding	OTTHUMT00000040136.1	-	0	76	0	G	NM_080596		27114921	1	tier1	-	no_errors	ENST00000377459	ensembl	human	known	74_37	missense	61.97	27	44	SNP	0.994	T	T	27114921	G	T	27114921	3	4	156	1	0	0	0	0	1	0	0	0	7161	1203	42	3	16	3	HIST1H2AH	6	27114921	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09		27114921	144000146	71	39731											
HLA-DMB	3109	genome.wustl.edu	37	chr6	32906598	32906598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgccaagctattcagcaccCcaaattcgcaaggggccatc	11	7	8	15	2	1	0	1	0	0	0	4	0	1	0	4	2	2	3	4	2	4	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr6:32906598C>A	ENST00000418107.2	-	2	462	c.200G>T	c.(199-201)gGg>gTg	p.G67V	HLA-DMB_ENST00000416244.2_Missense_Mutation_p.G67V|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.G99V|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	67	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						ATTCAGCACCCCAAATTCGCA	0.517																																																	0													117	119	118					6																	32906598		1511	2709	4220	SO:0001583	missense	0				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.200G>T	6.37:g.32906598C>A	ENSP00000398890:p.Gly67Val		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.G67V	ENST00000418107.2	37	c.200	CCDS4760.1	6	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181616	0.57800	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.39229	1.09;1.09;1.09	5.07	5.07	0.68467	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);	0.237339	0.29178	N	0.012901	T	0.56202	0.1969	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.56402	-0.7985	9	.	.	.	.	13.823	0.63333	0.0:1.0:0.0:0.0	.	67;67;76	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	V	67;67;67;99	ENSP00000398890:G67V;ENSP00000391010:G67V;ENSP00000412457:G99V	.	G	-	2	0	XXbac-BPG181M17.5;HLA-DMB	33014576	0.986000	0.35501	0.967000	0.41034	0.365000	0.29674	3.499000	0.53310	2.631000	0.89168	0.637000	0.83480	GGG	HLA-DMB	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000242574		0.517	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMB	HGNC	protein_coding	OTTHUMT00000076340.2	-	0	68	0	C	NM_002118		32906598	-1	tier1	-	no_errors	ENST00000418107	ensembl	human	known	74_37	missense	8.47	54	5	SNP	0.978	A	A	32906598	C	A	32906598	3	1	156	1	0	0	0	0	1	0	0	0	7226	623	22	3	611	3	HLA-DMB	6	32906598	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	5791677	32906598	138208469	72	39732											
DEF6	50619	genome.wustl.edu	37	chr6	35280402	35280402	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacgtaactccggctggcaGggctacctgtggaagcgagg	8	7	16	10	3	0	1	0	1	0	0	1	3	1	2	2	5	3	4	2	5	3	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr6:35280402G>T	ENST00000316637.5	+	5	665		c.e5-1		DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)							cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CCGGCTGGCAGGGCTACCTGT	0.617																																																	0													34	36	35					6																	35280402		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.661-1G>T	6.37:g.35280402G>T			Q86VF4	Splice_Site	SNP	-	e5-1	ENST00000316637.5	37	c.661-1	CCDS4802.1	6	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402934	0.62288	.	.	ENSG00000023892	ENST00000316637	.	.	.	5.25	3.48	0.39840	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9018	0.52688	0.1418:0.0:0.8582:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEF6	35388380	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	7.835000	0.86780	0.721000	0.32231	0.655000	0.94253	.	DEF6	-	-	ENSG00000023892		0.617	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	HGNC	protein_coding	OTTHUMT00000040276.1		0	70	0	G	NM_022047	Intron	35280402	1			no_errors	ENST00000316637	ensembl	human	known	74_37	splice_site	5.63	67	4	SNP	1.000	T	T	35280402	G	T	35280402	5	4	156	1	0	0	0	0	0	0	1	0	4395	1014	35	3	678	3	DEF6	6	35280402	Splice_Site	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	2373804	35280402	135834665	73	39733											
FRS3	10817	genome.wustl.edu	37	chr6	41738548	41738548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggttctggggccccttagGgcggtctccaccccagccct	3	8	14	16	1	2	0	0	0	2	0	3	0	2	0	6	6	1	1	6	6	1	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr6:41738548G>A	ENST00000373018.3	-	7	1539	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	FRS3_ENST00000259748.2_Missense_Mutation_p.P430S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	430					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	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)			GGCCCCTTAGGGCGGTCTCCA	0.637																																																	0													25	32	30					6																	41738548		2201	4297	6498	SO:0001583	missense	0			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1288C>T	6.37:g.41738548G>A	ENSP00000362109:p.Pro430Ser		Q5T3D5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.P430S	ENST00000373018.3	37	c.1288	CCDS4860.1	6	.	.	.	.	.	.	.	.	.	.	G	8.070	0.770047	0.15983	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.20738	2.05;2.05	5.76	2.88	0.33553	.	1.150150	0.06088	N	0.663249	T	0.04407	0.0121	N	0.16233	0.39	0.33490	D	0.58854	P	0.49090	0.919	B	0.37550	0.253	T	0.36040	-0.9764	10	0.23302	T	0.38	-18.6196	9.3478	0.38120	0.0749:0.3288:0.5963:0.0	.	430	O43559	FRS3_HUMAN	S	430	ENSP00000362109:P430S;ENSP00000259748:P430S	ENSP00000259748:P430S	P	-	1	0	FRS3	41846526	0.043000	0.20138	0.970000	0.41538	0.992000	0.81027	0.271000	0.18626	0.274000	0.22072	0.655000	0.94253	CCT	FRS3	-	NULL	ENSG00000137218		0.637	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS3	HGNC	protein_coding	OTTHUMT00000040532.2	-	0	99	0	G	NM_006653		41738548	-1	tier1	-	no_errors	ENST00000259748	ensembl	human	known	74_37	missense	5.18	183	10	SNP	0.991	A	A	41738548	G	A	41738548	3	1	156	1	0	0	0	0	1	0	0	0	6086	1232	43	3	194	3	FRS3	6	41738548	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	6458146	41738548	129376519	74	39734											
GPR110	266977	genome.wustl.edu	37	chr6	46977523	46977523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtttcattcactaggtGgcagcctgcatcgttccact	7	14	9	11	1	2	1	2	1	0	0	4	1	3	1	2	2	2	4	2	2	1	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr6:46977523G>T	ENST00000371253.2	-	11	1863	c.1648C>A	c.(1648-1650)Cac>Aac	p.H550N	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.H353N	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	550	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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						TTCACTAGGTGGCAgcctgca	0.443																																																	0													110	94	99					6																	46977523		2203	4300	6503	SO:0001583	missense	0			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.1648C>A	6.37:g.46977523G>T	ENSP00000360299:p.His550Asn		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.H550N	ENST00000371253.2	37	c.1648	CCDS34471.1	6	.	.	.	.	.	.	.	.	.	.	G	9.912	1.209856	0.22289	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.68181	-0.31;-0.31	5.84	3.1	0.35709	GPS domain (3);	0.646279	0.15170	N	0.276725	T	0.36413	0.0966	L	0.42686	1.345	0.25111	N	0.990713	B	0.22480	0.07	B	0.22880	0.042	T	0.32534	-0.9903	10	0.51188	T	0.08	-0.7386	7.6547	0.28369	0.2025:0.1186:0.6789:0.0	.	550	Q5T601	GP110_HUMAN	N	550;550;353	ENSP00000360299:H550N;ENSP00000283297:H353N	ENSP00000283297:H353N	H	-	1	0	GPR110	47085482	0.009000	0.17119	0.925000	0.36789	0.382000	0.30200	0.098000	0.15189	0.382000	0.24878	0.555000	0.69702	CAC	GPR110	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000153292		0.443	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2		0	54	0	G	NM_153840		46977523	-1			no_errors	ENST00000371253	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.927	T	T	46977523	G	T	46977523	3	4	156	1	0	0	0	0	1	0	0	0	6653	1348	47	3	1104	3	GPR110	6	46977523	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	5238975	46977523	124137544	75	39735											
RIMS1	22999	genome.wustl.edu	37	chr6	72960111	72960111	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatctacctgctagagtaGatggacgtcctcgaaatccc	11	9	9	12	2	1	3	0	0	1	3	4	5	3	4	3	1	2	2	3	1	4	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr6:72960111G>C	ENST00000521978.1	+	13	2320	c.2320G>C	c.(2320-2322)Gat>Cat	p.D774H	RIMS1_ENST00000348717.5_Missense_Mutation_p.D774H|RIMS1_ENST00000491071.2_Missense_Mutation_p.D774H|RIMS1_ENST00000522291.1_Missense_Mutation_p.D774H|RIMS1_ENST00000517960.1_Missense_Mutation_p.D774H|RIMS1_ENST00000401910.3_Missense_Mutation_p.D248H|RIMS1_ENST00000425662.2_Missense_Mutation_p.D167H|RIMS1_ENST00000523963.1_Missense_Mutation_p.D248H|RIMS1_ENST00000264839.7_Missense_Mutation_p.D774H|RIMS1_ENST00000518273.1_Missense_Mutation_p.D774H|RIMS1_ENST00000520567.1_Missense_Mutation_p.D774H|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000517827.1_Missense_Mutation_p.D233H	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	774	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)				TGCTAGAGTAGATGGACGTCC	0.358																																																	0													81	76	77					6																	72960111		1846	4091	5937	SO:0001583	missense	0			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.2320G>C	6.37:g.72960111G>C	ENSP00000428417:p.Asp774His		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.D774H	ENST00000521978.1	37	c.2320	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311739|4.311739	0.81358|0.81358	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.69175|.	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38|.	5.28|5.28	5.28|5.28	0.74379|0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.56615|0.56615	0.1997|0.1997	L|L	0.38953|0.38953	1.18|1.18	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D;D|.	0.89917|.	0.882;0.999;0.999;1.0;1.0;1.0;1.0|.	P;D;D;D;D;D;D|.	0.97110|.	0.837;0.997;0.999;1.0;1.0;0.999;1.0|.	T|T	0.53056|0.53056	-0.8492|-0.8492	10|5	0.87932|.	D|.	0|.	-19.872|-19.872	19.2624|19.2624	0.93973|0.93973	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	233;248;774;233;248;774;774|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	H|T	774;774;774;774;774;774;774;774;774;774;774;774;248;248;167;167;233|347	ENSP00000430101:D774H;ENSP00000275037:D774H;ENSP00000264839:D774H;ENSP00000429959:D774H;ENSP00000430408:D774H;ENSP00000430502:D774H;ENSP00000430932:D774H;ENSP00000428417:D774H;ENSP00000385649:D248H;ENSP00000428328:D248H;ENSP00000411235:D167H;ENSP00000389503:D167H;ENSP00000428367:D233H|.	ENSP00000264839:D774H|.	D|R	+|+	1|2	0|0	RIMS1|RIMS1	73016832|73016832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.724000|0.724000	0.41520|0.41520	9.615000|9.615000	0.98356|0.98356	2.611000|2.611000	0.88343|0.88343	0.585000|0.585000	0.79938|0.79938	GAT|AGA	RIMS1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000079841		0.358	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	68	0	G			72960111	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	8.62	53	5	SNP	1.000	C	C	72960111	G	C	72960111	3	2	156	1	0	0	0	0	1	0	0	0	13412	942	33	5	2533	5	RIMS1	6	72960111	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	25982588	72960111	98154956	76	39736											
AKIRIN2	55122	genome.wustl.edu	37	chr6	88391386	88391386	+	Missense_Mutation	SNP	A	A	C	1	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	tgcatgtggctgtgcatcagAagtacaacacggatctgtct	10	11	11	9	1	3	1	1	0	2	1	3	2	3	2	0	2	4	4	0	2	3	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr6:88391386A>C	ENST00000257787.5	-	2	855	c.331T>G	c.(331-333)Tct>Gct	p.S111A		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	111					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)			large_intestine(4)	4						TGTGCATCAGAAGTACAACAC	0.363																																																	0													177	143	154					6																	88391386		2203	4300	6503	SO:0001583	missense	0			BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"chromosome 6 open reading frame 166"	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.331T>G	6.37:g.88391386A>C	ENSP00000257787:p.Ser111Ala		Q9BQB1	Missense_Mutation	SNP	NULL	p.S111A	ENST00000257787.5	37	c.331	CCDS5013.1	6	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020199	0.54576	.	.	ENSG00000135334	ENST00000257787	T	0.49720	0.77	5.93	4.7	0.59300	.	0.351568	0.33127	N	0.005260	T	0.25680	0.0625	L	0.49126	1.545	0.35331	D	0.785605	B	0.14438	0.01	B	0.13407	0.009	T	0.22103	-1.0226	10	0.52906	T	0.07	-11.1906	9.2104	0.37316	0.6852:0.0:0.0:0.3148	.	111	Q53H80	AKIR2_HUMAN	A	111	ENSP00000257787:S111A	ENSP00000257787:S111A	S	-	1	0	AKIRIN2	88448105	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.300000	0.65721	2.263000	0.75096	0.533000	0.62120	TCT	AKIRIN2	-	NULL	ENSG00000135334		0.363	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKIRIN2	HGNC	protein_coding	OTTHUMT00000041455.1	-	0	96	0	A	NM_018064		88391386	-1	tier1	-	no_errors	ENST00000257787	ensembl	human	known	74_37	missense	27.10	78	29	SNP	1.000	C	C	88391386	A	C	88391386	3	2	156	1	0	0	0	0	1	0	0	0	462	246	9	4	296	4	AKIRIN2	6	88391386	Missense_Mutation	SNP	A	TCGA-V5-A7RC-01B-11D-A403-09	15431275	88391386	82723681	77	39737											
MDN1	23195	genome.wustl.edu	37	chr6	90499981	90499981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaaggaagttttgccacatCctattggtccttccaacaac	11	12	6	12	0	0	0	0	0	0	0	3	1	3	1	4	2	3	1	4	2	5	6			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr6:90499981C>A	ENST00000369393.3	-	6	1110	c.995G>T	c.(994-996)gGa>gTa	p.G332V	MDN1_ENST00000428876.1_Missense_Mutation_p.G332V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	332					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)		TTTGCCACATCCTATTGGTCC	0.463																																																	0													179	188	185					6																	90499981		2203	4300	6503	SO:0001583	missense	0			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.995G>T	6.37:g.90499981C>A	ENSP00000358400:p.Gly332Val		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.G332V	ENST00000369393.3	37	c.995	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534282	0.64972	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	D;D;D	0.96885	-4.16;-4.16;-4.16	4.91	4.91	0.64330	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	H	0.98276	4.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99433	1.0936	10	0.87932	D	0	.	18.1265	0.89587	0.0:1.0:0.0:0.0	.	332;332	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	V	332	ENSP00000358400:G332V;ENSP00000413970:G332V;ENSP00000409664:G332V	ENSP00000358400:G332V	G	-	2	0	MDN1	90556702	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.818000	0.86416	2.288000	0.76882	0.655000	0.94253	GGA	MDN1	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin	ENSG00000112159		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	65	0	C			90499981	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	90499981	C	A	90499981	3	1	156	1	0	0	0	0	1	0	0	0	9453	855	30	3	16183	3	MDN1	6	90499981	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	2108595	90499981	80615086	78	39738											
SEC63	11231	genome.wustl.edu	37	chr6	108232548	108232548	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttaaaaagctaaaacttAccacaacaactggaaggata	21	7	5	8	0	0	0	0	0	0	0	0	2	0	2	1	2	6	1	1	2	11	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr6:108232548A>C	ENST00000369002.4	-	7	804		c.e7+1			NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)						liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GCTAAAACTTACCACAACAAC	0.299																																																	0													83	73	77					6																	108232548		2203	4300	6503	SO:0001630	splice_region_variant	0			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.624+1T>G	6.37:g.108232548A>C			O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Splice_Site	SNP	-	e7+2	ENST00000369002.4	37	c.624+2	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165500	0.78339	.	.	ENSG00000025796	ENST00000369002;ENST00000423697;ENST00000429168	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3752	0.74598	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC63	108339241	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	8.704000	0.91351	2.044000	0.60594	0.528000	0.53228	.	SEC63	-	-	ENSG00000025796		0.299	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	-	0	84	0	A	NM_007214	Intron	108232548	-1	tier1	-	no_errors	ENST00000369002	ensembl	human	known	74_37	splice_site	27.27	48	18	SNP	1.000	C	C	108232548	A	C	108232548	5	2	156	1	0	0	0	0	0	0	1	0	14050	405	14	4	1716	4	SEC63	6	108232548	Splice_Site	SNP	A	TCGA-V5-A7RC-01B-11D-A403-09	17732567	108232548	62882519	79	39739											
RPS6KA2	6196	genome.wustl.edu	37	chr6	166944794	166944794	+	Missense_Mutation	SNP	A	A	C	1	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	accccttcaccttcctcaccAggaacaccttagcaagagaa	13	7	5	16	0	2	1	2	0	0	1	3	3	3	2	6	1	2	1	6	1	4	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr6:166944794A>C	ENST00000265678.4	-	3	447	c.224T>G	c.(223-225)cTg>cGg	p.L75R	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.L83R|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.L100R|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000405189.3_5'UTR|Z98049.1_ENST00000598601.1_5'Flank	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	75	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTTCCTCACCAGGAACACCTT	0.502																																																	0													87	92	90					6																	166944794		2203	4300	6503	SO:0001583	missense	0			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.224T>G	6.37:g.166944794A>C	ENSP00000265678:p.Leu75Arg		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L100R	ENST00000265678.4	37	c.299	CCDS5294.1	6	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220139	0.58560	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000507371;ENST00000506565	T;T;T;T;T	0.65364	1.7;1.7;1.7;-0.15;-0.15	4.27	4.27	0.50696	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.69070	0.3070	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79108	0.992;0.986;0.984	T	0.73956	-0.3819	10	0.87932	D	0	.	12.6567	0.56791	1.0:0.0:0.0:0.0	.	100;83;75	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	R	75;100;83;59;100	ENSP00000265678:L75R;ENSP00000422435:L100R;ENSP00000427015:L83R;ENSP00000423114:L59R;ENSP00000425148:L100R	ENSP00000265678:L75R	L	-	2	0	RPS6KA2	166864784	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	7.973000	0.88032	1.925000	0.55765	0.455000	0.32223	CTG	RPS6KA2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000071242		0.502	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	-	0	44	0	A	NM_021135		166944794	-1	tier1	-	no_errors	ENST00000510118	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	C	C	166944794	A	C	166944794	3	2	156	1	0	0	0	0	1	0	0	0	13696	188	7	4	2053	4	RPS6KA2	6	166944794	Missense_Mutation	SNP	A	TCGA-V5-A7RC-01B-11D-A403-09	58712246	166944794	4170273	80	39740											
MEOX2	4223	genome.wustl.edu	37	chr7	15725803	15725803	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgatggtggtgatggtgGtggtggtggtggtggtggtg	2	14	24	1	0	0	2	0	2	0	0	0	2	0	2	0	10	1	1	0	10	0	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr7:15725803G>A	ENST00000262041.5	-	1	634	c.225C>T	c.(223-225)caC>caT	p.H75H	AC005550.4_ENST00000442176.1_lincRNA|AC005550.5_ENST00000438923.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	75	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)			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)		ggtgatggtggtggtggtggt	0.602																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												0													21	22	22					7																	15725803		2203	4299	6502	SO:0001819	synonymous_variant	0				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.225C>T	7.37:g.15725803G>A			B2R8I7|O75263|Q9UPL6	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.H75	ENST00000262041.5	37	c.225	CCDS34605.1	7																																																																																			MEOX2	-	NULL	ENSG00000106511		0.602	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2		0	59	0	G	NM_005924		15725803	-1			no_errors	ENST00000262041	ensembl	human	known	74_37	silent	5.26	54	3	SNP	1.000	A	A	15725803	G	A	15725803	2	1	156	1	0	0	0	0	0	0	0	1	9512	1252	44	3		3	MEOX2	7	15725803	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09		15725803	143412860	81	39741											
ZNF804B	219578	genome.wustl.edu	37	chr7	88965181	88965181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggctccttcgcaagtccCatgcacaattcaacttgcac	11	9	7	14	1	1	1	1	0	0	1	4	1	3	1	2	1	3	4	2	1	3	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr7:88965181C>G	ENST00000333190.4	+	4	3494	c.2885C>G	c.(2884-2886)cCa>cGa	p.P962R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	962							metal ion binding (GO:0046872)	p.P962L(1)|p.P962Q(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCGCAAGTCCCATGCACAATT	0.388										HNSCC(36;0.09)																																							2	Substitution - Missense(2)	lung(2)											114	115	115					7																	88965181		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2885C>G	7.37:g.88965181C>G	ENSP00000329638:p.Pro962Arg		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.P962R	ENST00000333190.4	37	c.2885	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.282901	0.01398	.	.	ENSG00000182348	ENST00000333190	T	0.04758	3.56	5.34	0.244	0.15507	.	0.393600	0.24476	N	0.038181	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45906	-0.9229	10	0.22706	T	0.39	-0.299	4.835	0.13460	0.3735:0.4483:0.0681:0.1101	.	962	A4D1E1	Z804B_HUMAN	R	962	ENSP00000329638:P962R	ENSP00000329638:P962R	P	+	2	0	ZNF804B	88803117	0.131000	0.22433	0.000000	0.03702	0.070000	0.16714	1.579000	0.36536	-0.098000	0.12285	-0.274000	0.10170	CCA	ZNF804B	-	NULL	ENSG00000182348		0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2		0	53	0	C	NM_181646		88965181	1			no_errors	ENST00000333190	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.001	G	G	88965181	C	G	88965181	3	3	156	1	0	0	0	0	1	0	0	0	18219	594	21	5	2899	5	ZNF804B	7	88965181	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	73239378	88965181	70173482	82	39742											
MOSPD3	64598	genome.wustl.edu	37	chr7	100210514	100210514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgggacccgttgtcccgGtcctggtctttcccccggat	2	12	11	16	3	1	0	0	0	1	0	4	2	4	2	6	4	0	1	6	4	0	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr7:100210514G>C	ENST00000393950.2	+	1	382	c.100G>C	c.(100-102)Gtc>Ctc	p.V34L	MOSPD3_ENST00000223054.4_Missense_Mutation_p.V34L|MOSPD3_ENST00000379527.2_Missense_Mutation_p.V34L|MOSPD3_ENST00000424091.2_Missense_Mutation_p.V34L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	34	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGTTGTCCCGGTCCTGGTCTT	0.706																																																	0													30	35	34					7																	100210514		2198	4283	6481	SO:0001583	missense	0			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.100G>C	7.37:g.100210514G>C	ENSP00000377522:p.Val34Leu		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom	p.V34L	ENST00000393950.2	37	c.100	CCDS5701.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324498	0.81580	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	3.89	3.89	0.44902	PapD-like (1);	0.000000	0.50627	D	0.000117	T	0.67534	0.2903	M	0.67700	2.07	0.46336	D	0.998996	D;D	0.63046	0.992;0.992	D;D	0.74348	0.983;0.983	T	0.70245	-0.4925	10	0.72032	D	0.01	-15.8464	11.6633	0.51361	0.0:0.0:1.0:0.0	.	34;34	C9JE89;O75425	.;MSPD3_HUMAN	L	34;34;34;34;34;20	ENSP00000223054:V34L;ENSP00000417276:V34L;ENSP00000368842:V34L;ENSP00000377522:V34L;ENSP00000404626:V34L	ENSP00000223054:V34L	V	+	1	0	MOSPD3	100048450	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.040000	0.64191	2.468000	0.83385	0.462000	0.41574	GTC	MOSPD3	-	pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom	ENSG00000106330		0.706	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MOSPD3	HGNC	protein_coding	OTTHUMT00000356395.1	-	0	65	0	G	NM_023948		100210514	1	tier1	-	no_errors	ENST00000223054	ensembl	human	known	74_37	missense	16.39	51	10	SNP	1.000	C	C	100210514	G	C	100210514	3	2	156	1	0	0	0	0	1	0	0	0	9755	1261	44	5	102	5	MOSPD3	7	100210514	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	11245333	100210514	58928149	83	39743											
C7orf52	375607	genome.wustl.edu	37	chr7	100817776	100817776	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccgtgcccccgggctcaCcacgcctccgttgcgcttgg	2	7	14	18	5	1	0	1	0	0	0	2	0	2	0	6	3	2	3	6	3	0	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr7:100817776C>G	ENST00000300303.2	-	2	551		c.e2+1		NAT16_ENST00000443096.1_Missense_Mutation_p.V105L|NAT16_ENST00000455377.1_Splice_Site	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)								N-acetyltransferase activity (GO:0008080)										CCCGGGCTCACCACGCCTCCG	0.672																																																	0													18	17	17					7																	100817776		2199	4296	6495	SO:0001630	splice_region_variant	0			AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"chromosome 7 open reading frame 52"	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.312+1G>C	7.37:g.100817776C>G			B3KRS2|Q8NDR1	Splice_Site	SNP	-	e1+1	ENST00000300303.2	37	c.312+1	CCDS5713.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.470464|3.470464	0.63625|0.63625	.|.	.|.	ENSG00000167011|ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446|ENST00000443096	.|T	.|0.53640	.|0.61	3.44|3.44	2.5|2.5	0.30297|0.30297	.|.	.|.	.|.	.|.	.|.	.|T	.|0.37839	.|0.1018	.|.	.|.	.|.	0.21147|0.21147	N|N	0.999775|0.999775	.|P	.|0.40107	.|0.703	.|B	.|0.36959	.|0.237	.|T	.|0.16394	.|-1.0404	.|8	.|0.56958	.|D	.|0.05	.|.	10.2852|10.2852	0.43562|0.43562	0.0:0.7958:0.2042:0.0|0.0:0.7958:0.2042:0.0	.|.	.|105	.|B3KRS2	.|.	.|L	-1|105	.|ENSP00000394435:V105L	.|ENSP00000394435:V105L	.|V	-|-	.|1	.|0	C7orf52|C7orf52	100604496|100604496	1.000000|1.000000	0.71417|0.71417	0.412000|0.412000	0.26496|0.26496	0.943000|0.943000	0.58893|0.58893	1.788000|1.788000	0.38714|0.38714	0.735000|0.735000	0.32537|0.32537	0.407000|0.407000	0.27541|0.27541	.|GTG	NAT16	-	-	ENSG00000167011		0.672	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT16	HGNC	protein_coding	OTTHUMT00000347465.1	-	0	121	0	C	NM_198571	Intron	100817776	-1	tier1	-	no_errors	ENST00000300303	ensembl	human	known	74_37	splice_site	6.06	124	8	SNP	1.000	G	G	100817776	C	G	100817776	5	3	156	1	0	0	0	0	0	0	1	0	2408	521	18	5	808	5	C7orf52	7	100817776	Splice_Site	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	607262	100817776	58320887	84	39744											
CDHR3	222256	genome.wustl.edu	37	chr7	105653427	105653427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaccatgccatctggagtgGggagcggcagcagattttta	9	10	13	9	1	2	1	1	0	1	1	2	3	2	3	2	4	3	2	2	4	1	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr7:105653427G>T	ENST00000317716.9	+	9	1254	c.1174G>T	c.(1174-1176)Ggg>Tgg	p.G392W	CDHR3_ENST00000343407.5_Missense_Mutation_p.G109W|CDHR3_ENST00000541203.1_3'UTR|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.G304W|CDHR3_ENST00000542731.1_Missense_Mutation_p.G392W	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ATCTGGAGTGGGGAGCGGCAG	0.478																																																	0													153	149	150					7																	105653427		1944	4165	6109	SO:0001583	missense	0			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.1174G>T	7.37:g.105653427G>T	ENSP00000325954:p.Gly392Trp		Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G392W	ENST00000317716.9	37	c.1174	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118464	0.56505	.	.	ENSG00000128536	ENST00000542731;ENST00000343407;ENST00000317716;ENST00000478080;ENST00000466045	T;T;T;T;T	0.64260	0.21;0.21;0.21;-0.09;-0.09	5.23	4.34	0.51931	Cadherin (3);Cadherin-like (1);	0.081350	0.51477	D	0.000093	T	0.76990	0.4065	M	0.75264	2.295	0.41665	D	0.989201	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.993;0.998;0.998	T	0.79761	-0.1667	10	0.72032	D	0.01	-25.0823	12.3871	0.55338	0.0797:0.0:0.9203:0.0	.	109;379;392;304	Q6ZTQ4-2;B3KYA0;Q6ZTQ4;B7Z8X2	.;.;CDHR3_HUMAN;.	W	392;109;392;304;150	ENSP00000439766:G392W;ENSP00000341510:G109W;ENSP00000325954:G392W;ENSP00000417771:G304W;ENSP00000419017:G150W	ENSP00000325954:G392W	G	+	1	0	CDHR3	105440663	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	3.709000	0.54853	2.447000	0.82792	0.484000	0.47621	GGG	CDHR3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000128536		0.478	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2		0	38	0	G	NM_152750		105653427	1			no_errors	ENST00000317716	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	105653427	G	T	105653427	3	4	156	1	0	0	0	0	1	0	0	0	3127	1232	43	3	1208	3	CDHR3	7	105653427	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	4835651	105653427	53485236	85	39745											
SLC13A1	6561	genome.wustl.edu	37	chr7	122774582	122774582	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgacagtcaggatagcGtctgtgtgaaaacatggaga	14	7	13	7	2	2	2	1	1	1	1	2	5	2	3	0	2	3	1	0	2	4	1	rs140244991	byFrequency	TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr7:122774582G>T	ENST00000194130.2	-	8	853	c.814C>A	c.(814-816)Cgc>Agc	p.R272S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	272					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)	TCAGGATAGCGTCTGTGTGAA	0.483																																																	0													154	126	135					7																	122774582		2203	4300	6503	SO:0001630	splice_region_variant	0				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.813-1C>A	7.37:g.122774582G>T			Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.R272S	ENST00000194130.2	37	c.814	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760486	0.69763	.	.	ENSG00000081800	ENST00000194130	T	0.66280	-0.2	5.72	5.72	0.89469	.	0.392833	0.33457	N	0.004886	T	0.61311	0.2337	L	0.46819	1.47	0.80722	D	1	P;P	0.46395	0.877;0.877	P;P	0.45660	0.489;0.489	T	0.55283	-0.8165	10	0.22109	T	0.4	-22.7284	17.7332	0.88384	0.0:0.0:1.0:0.0	.	272;272	A4D0X1;Q9BZW2	.;S13A1_HUMAN	S	272	ENSP00000194130:R272S	ENSP00000194130:R272S	R	-	1	0	SLC13A1	122561818	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	5.089000	0.64492	2.865000	0.98341	0.655000	0.94253	CGC	SLC13A1	-	pfam_Na/sul_symport	ENSG00000081800		0.483	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	-	0	65	0	G	NM_022444	Missense_Mutation	122774582	-1	tier1	-	no_errors	ENST00000194130	ensembl	human	known	74_37	missense	30.77	36	16	SNP	1.000	T	T	122774582	G	T	122774582	5	4	156	1	0	0	0	0	0	0	1	0	14436	1159	40	2	1005	2	SLC13A1	7	122774582	Splice_Site	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	17121155	122774582	36364081	86	39746											
SLC13A4	26266	genome.wustl.edu	37	chr7	135366322	135366322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttggcgttaggcttgatCagtgatgttgctgaccctcg	6	13	12	10	2	1	3	1	3	0	0	2	3	1	3	1	2	1	4	1	2	1	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr7:135366322C>A	ENST00000354042.4	-	16	2559	c.1870G>T	c.(1870-1872)Gat>Tat	p.D624Y	SLC13A4_ENST00000491630.1_5'UTR|C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	624					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						TAGGCTTGATCAGTGATGTTG	0.527																																																	0													187	147	160					7																	135366322		2203	4300	6503	SO:0001583	missense	0			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.1870G>T	7.37:g.135366322C>A	ENSP00000297282:p.Asp624Tyr		A4D1Q4|Q8N631	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM	p.D624Y	ENST00000354042.4	37	c.1870	CCDS5840.1	7	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395543	0.42512	.	.	ENSG00000164707	ENST00000354042	T	0.69040	-0.37	5.11	2.1	0.27182	.	0.464248	0.20601	N	0.089160	T	0.41650	0.1168	N	0.08118	0	0.31028	N	0.717802	P;P	0.41265	0.744;0.61	B;B	0.30943	0.122;0.086	T	0.50906	-0.8772	10	0.54805	T	0.06	.	14.4984	0.67704	0.0:0.5648:0.4352:0.0	.	493;624	Q59HF0;Q9UKG4	.;S13A4_HUMAN	Y	624	ENSP00000297282:D624Y	ENSP00000297282:D624Y	D	-	1	0	SLC13A4	135016862	0.427000	0.25514	0.997000	0.53966	0.847000	0.48162	1.198000	0.32223	0.705000	0.31890	0.555000	0.69702	GAT	SLC13A4	-	NULL	ENSG00000164707		0.527	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A4	HGNC	protein_coding	OTTHUMT00000340558.1	-	0	44	0	C	NM_012450		135366322	-1	tier1	-	no_errors	ENST00000354042	ensembl	human	known	74_37	missense	31.51	50	23	SNP	0.956	A	A	135366322	C	A	135366322	3	1	156	1	0	0	0	0	1	0	0	0	14439	826	29	3	14	3	SLC13A4	7	135366322	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	12591740	135366322	23772341	87	39747											
XPO7	23039	genome.wustl.edu	37	chr8	21829470	21829470	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagtaagtgctacagccttCctcattgaagtaagtgccat	12	11	8	10	0	1	1	1	1	0	0	2	1	2	1	3	0	4	3	3	0	5	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr8:21829470C>A	ENST00000252512.9	+	5	592				XPO7_ENST00000518017.1_Intron|XPO7_ENST00000434536.1_Missense_Mutation_p.F170L|XPO7_ENST00000433566.4_Intron	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7						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)		CTACAGCCTTCCTCATTGAAG	0.358																																																	0													177	172	173					8																	21829470		1915	4131	6046	SO:0001627	intron_variant	0			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.492+18C>A	8.37:g.21829470C>A			O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.F170L	ENST00000252512.9	37	c.510	CCDS47818.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.54|13.54	2.268710|2.268710	0.40095|0.40095	.|.	.|.	ENSG00000130227|ENSG00000130227	ENST00000434536|ENST00000521303	T|.	0.63744|.	-0.06|.	5.49|5.49	4.61|4.61	0.57282|0.57282	.|.	.|.	.|.	.|.	.|.	T|T	0.63721|0.63721	0.2535|0.2535	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.62586|0.62586	-0.6823|-0.6823	7|4	.|.	.|.	.|.	.|.	12.4482|12.4482	0.55664|0.55664	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	170|.	E9PEN8|.	.|.	L|Y	170|175	ENSP00000404853:F170L|.	.|.	F|S	+|+	3|2	2|0	XPO7|XPO7	21885416|21885416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.129000|3.129000	0.50500|0.50500	1.453000|1.453000	0.47775|0.47775	0.655000|0.655000	0.94253|0.94253	TTC|TCC	XPO7	-	superfamily_ARM-type_fold	ENSG00000130227		0.358	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1	-	0	136	0	C	NM_015024		21829470	1	tier1	-	no_errors	ENST00000434536	ensembl	human	known	74_37	missense	26.67	77	28	SNP	1.000	A	A	21829470	C	A	21829470	1	1	156	0	1	0	0	0	0	0	0	0	17498	854	30	3		3	XPO7	8	21829470	Intron	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09		21829470	124534552	88	39748											
PDLIM2	64236	genome.wustl.edu	37	chr8	22442538	22442538	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctccacagggctccgtGaggacatacactgagagtca	10	8	10	13	1	2	2	1	2	1	1	5	4	4	3	2	2	1	1	2	2	1	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr8:22442538G>T	ENST00000397760.4	+	5	724	c.324G>T	c.(322-324)gtG>gtT	p.V108V	PDLIM2_ENST00000409417.1_Silent_p.V108V|PDLIM2_ENST00000409141.1_Silent_p.V108V|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000308354.7_Silent_p.V358V|PDLIM2_ENST00000397761.2_Silent_p.V108V|PDLIM2_ENST00000339162.7_Silent_p.V108V|PDLIM2_ENST00000265810.4_Silent_p.V108V			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	108						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGGGCTCCGTGAGGACATACA	0.632																																																	0													72	72	72					8																	22442538		2203	4300	6503	SO:0001819	synonymous_variant	0			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.324G>T	8.37:g.22442538G>T			D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Silent	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.V358	ENST00000397760.4	37	c.1074		8																																																																																			PDLIM2	-	NULL	ENSG00000120913		0.632	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	HGNC	protein_coding	OTTHUMT00000334167.1	-	0	47	0	G			22442538	1	tier1	-	no_errors	ENST00000308354	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.984	T	T	22442538	G	T	22442538	2	4	156	1	0	0	0	0	0	0	0	1	11719	1277	45	3		3	PDLIM2	8	22442538	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	613068	22442538	123921484	89	39749											
HNF4G	3174	genome.wustl.edu	37	chr8	76472647	76472647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcaagacccattaactGgacaaactatacttttaggt	13	13	6	9	0	1	1	1	0	1	1	2	2	1	2	1	2	3	0	1	2	6	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr8:76472647G>A	ENST00000354370.1	+	10	1321	c.1051G>A	c.(1051-1053)Gga>Aga	p.G351R	HNF4G_ENST00000396423.2_Missense_Mutation_p.G388R			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	351					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CCCATTAACTGGACAAACTAT	0.388																																																	0													112	105	107					8																	76472647		2203	4300	6503	SO:0001583	missense	0				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.1051G>A	8.37:g.76472647G>A	ENSP00000346339:p.Gly351Arg		Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.G388R	ENST00000354370.1	37	c.1162		8	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617882	0.46736	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	T;T	0.69926	-0.44;-0.44	4.86	4.86	0.63082	.	0.207319	0.50627	D	0.000104	T	0.72542	0.3473	M	0.66939	2.045	0.45676	D	0.998596	P;P	0.48640	0.913;0.913	P;P	0.48030	0.459;0.564	T	0.75935	-0.3142	10	0.54805	T	0.06	.	18.5513	0.91066	0.0:0.0:1.0:0.0	.	388;351	F1D8Q4;Q14541	.;HNF4G_HUMAN	R	351;388	ENSP00000346339:G351R;ENSP00000379701:G388R	ENSP00000346339:G351R	G	+	1	0	HNF4G	76635202	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	4.899000	0.63245	2.683000	0.91414	0.655000	0.94253	GGA	HNF4G	-	NULL	ENSG00000164749		0.388	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	HNF4G	HGNC	protein_coding	OTTHUMT00000313914.2	-	0	49	0	G	NM_004133		76472647	1	tier1	-	no_errors	ENST00000396423	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	A	A	76472647	G	A	76472647	3	1	156	1	0	0	0	0	1	0	0	0	7281	1349	47	3	1196	3	HNF4G	8	76472647	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	54030109	76472647	69891375	90	39750											
IMPA1	3612	genome.wustl.edu	37	chr8	82593782	82593782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatccatgcattcctgcCaaggatcagccatcttctga	11	11	6	13	0	3	1	1	1	2	0	5	2	5	2	4	1	3	1	4	1	2	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr8:82593782C>A	ENST00000256108.5	-	2	479	c.14G>T	c.(13-15)tGg>tTg	p.W5L	IMPA1_ENST00000311489.4_Missense_Mutation_p.W5L|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.W64L	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	5					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)	GCATTCCTGCCAAGGATCAGC	0.333																																																	0													93	87	89					8																	82593782		2203	4300	6503	SO:0001583	missense	0				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.14G>T	8.37:g.82593782C>A	ENSP00000256108:p.Trp5Leu		B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen,prints_Inositol_monophosphatase	p.W64L	ENST00000256108.5	37	c.191	CCDS6231.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698473|3.698473	0.68386|0.68386	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000523942|ENST00000256108;ENST00000311489;ENST00000449740;ENST00000521360;ENST00000522997;ENST00000518202	.|T;T;T;T;T;T	.|0.35236	.|1.32;1.33;1.32;1.33;1.33;1.33	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35480|0.35480	0.0933|0.0933	N|N	0.11255|0.11255	0.115|0.115	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.08411|0.08411	-1.0723|-1.0723	5|10	.|0.02654	.|T	.|1	6.0654|6.0654	16.1484|16.1484	0.81586|0.81586	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5;64;5	.|B4DLN3;B7Z6Q4;P29218	.|.;.;IMPA1_HUMAN	F|L	29|5;5;64;5;64;5	.|ENSP00000256108:W5L;ENSP00000311803:W5L;ENSP00000408526:W64L;ENSP00000430283:W5L;ENSP00000430081:W64L;ENSP00000429516:W5L	.|ENSP00000256108:W5L	L|W	-|-	3|2	2|0	IMPA1|IMPA1	82756337|82756337	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	6.973000|6.973000	0.76116|0.76116	1.943000|1.943000	0.56356|0.56356	0.442000|0.442000	0.29010|0.29010	TTG|TGG	IMPA1	-	NULL	ENSG00000133731		0.333	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA1	HGNC	protein_coding	OTTHUMT00000379723.1	-	0	52	0	C			82593782	-1	tier1	-	no_errors	ENST00000449740	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	82593782	C	A	82593782	3	1	156	1	0	0	0	0	1	0	0	0	7749	595	21	3	851	3	IMPA1	8	82593782	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	6121135	82593782	63770240	91	39751											
ATAD2	29028	genome.wustl.edu	37	chr8	124359623	124359623	+	Missense_Mutation	SNP	A	A	G	1	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	agcagcttcagcacatattgAtttaatatctgctccacagt	12	13	6	10	0	2	1	1	1	1	0	3	1	3	1	1	0	4	4	1	0	3	6			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr8:124359623A>G	ENST00000287394.5	-	16	2028	c.1921T>C	c.(1921-1923)Tca>Cca	p.S641P	ATAD2_ENST00000521903.1_5'UTR|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	641					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCACATATTGATTTAATATCT	0.408																																																	0													57	54	55					8																	124359623		2203	4298	6501	SO:0001583	missense	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1921T>C	8.37:g.124359623A>G	ENSP00000287394:p.Ser641Pro		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S641P	ENST00000287394.5	37	c.1921	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966486	0.74131	.	.	ENSG00000156802	ENST00000287394	D	0.95103	-3.61	4.96	4.96	0.65561	.	0.068205	0.64402	D	0.000012	D	0.97071	0.9043	M	0.89904	3.07	0.80722	D	1	D	0.69078	0.997	P	0.61201	0.885	D	0.97623	1.0137	10	0.87932	D	0	-11.2002	12.1028	0.53794	0.8569:0.1431:0.0:0.0	.	641	Q6PL18	ATAD2_HUMAN	P	641	ENSP00000287394:S641P	ENSP00000287394:S641P	S	-	1	0	ATAD2	124428804	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.668000	0.61568	1.977000	0.57605	0.482000	0.46254	TCA	ATAD2	-	superfamily_P-loop_NTPase	ENSG00000156802		0.408	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	-	0	28	0	A	NM_014109		124359623	-1	tier1	-	no_errors	ENST00000287394	ensembl	human	known	74_37	missense	58.62	12	17	SNP	1.000	G	G	124359623	A	G	124359623	3	3	156	1	0	0	0	0	1	0	0	0	1072	333	12	4	2303	4	ATAD2	8	124359623	Missense_Mutation	SNP	A	TCGA-V5-A7RC-01B-11D-A403-09	41765841	124359623	22004399	92	39752											
FAM135B	51059	genome.wustl.edu	37	chr8	139180271	139180271	+	Silent	SNP	C	C	A	0	0	0	1	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	gagttccggatatccagggaCagctggctgtgcgtctgtat	7	11	14	9	2	1	0	0	0	1	0	3	3	3	2	2	3	2	4	2	3	2	3	rs201150785		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr8:139180271C>A	ENST00000395297.1	-	12	1295	c.1125G>T	c.(1123-1125)ctG>ctT	p.L375L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	375										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)			TATCCAGGGACAGCTGGCTGT	0.607										HNSCC(54;0.14)																																							0													97	104	102					8																	139180271		2112	4225	6337	SO:0001819	synonymous_variant	0			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.1125G>T	8.37:g.139180271C>A			B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.L375	ENST00000395297.1	37	c.1125	CCDS6375.2	8																																																																																			FAM135B	-	NULL	ENSG00000147724		0.607	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	30	0	C	NM_015912		139180271	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.999	A	A	139180271	C	A	139180271	2	1	156	1	0	0	0	0	0	0	0	1	5468	465	17	3		3	FAM135B	8	139180271	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	14820648	139180271	7183751	93	39753											
CDKN2A	1029	genome.wustl.edu	37	chr9	21971154	21971155	+	Frame_Shift_Del	DEL	CG	CG	-																															gggtcggcgcagttgggctcCgcgccgtggagcagcagcag																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr9:21971154_21971155delCG	ENST00000304494.5	-	2	473_474	c.203_204delCG	c.(202-204)gcgfs	p.A68fs	CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.G83fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A68fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G124fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G83fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	68			A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V. {ECO:0000269|PubMed:8710906}.|Missing (in melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.A68V(3)|p.E61fs*49(2)|p.A68A(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.A68E(1)|p.E61_L94del(1)|p.0(1)|p.A68fs*51(1)|p.L64_E69>Q(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)|p.E69fs*51(1)|p.G124fs*51(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGTTGGGCTCCGCGCCGTGGAG	0.708		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1380	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(11)|Substitution - Missense(4)|Substitution - coding silent(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(285)|skin(177)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(74)|soft_tissue(58)|oesophagus(55)|pleura(51)|upper_aerodigestive_tract(51)|ovary(37)|kidney(33)|breast(33)|pancreas(32)|biliary_tract(14)|thyroid(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM960270|CX984029	CDKN2A	M|X																																				SO:0001589	frameshift_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.203_204delCG	9.37:g.21971156_21971157delCG	ENSP00000307101:p.Ala68fs		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	pfam_Cyclin_kinase-Inhib_2A	p.G124fs	ENST00000304494.5	37	c.370_369	CCDS6510.1	9																																																																																			CDKN2A	-	NULL	ENSG00000147889		0.708	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0	14	0	CG	NM_000077		21971155	-1	tier1		no_errors	ENST00000361570	ensembl	human	known	74_37	frame_shift_del	28.57	5	2	DEL	0.054:0.999	-	-	21971155	CG	-	21971154	7	5	156	1	0	1	0	1	0	0	0	0	3168	661	23	0	274	0	CDKN2A	9	21971154	Frame_Shift_Del	DEL	CG	TCGA-V5-A7RC-01B-11D-A403-09		21971154	119242277	94	39754											
TLN1	7094	genome.wustl.edu	37	chr9	35707798	35707798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgtacaaactggcgcttgGcagtaggattggtggtacgg	9	10	15	7	2	0	0	0	0	0	0	0	1	0	1	0	6	3	5	0	6	4	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr9:35707798G>T	ENST00000314888.9	-	35	4915	c.4562C>A	c.(4561-4563)gCc>gAc	p.A1521D	TLN1_ENST00000540444.1_Missense_Mutation_p.A1521D|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1521	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)			CTGGCGCTTGGCAGTAGGATT	0.542																																																	0													204	185	192					9																	35707798		2203	4300	6503	SO:0001583	missense	0			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.4562C>A	9.37:g.35707798G>T	ENSP00000316029:p.Ala1521Asp		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.A1521D	ENST00000314888.9	37	c.4562	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.489373	0.96323	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.34275	1.37;1.37	5.62	5.62	0.85841	.	0.049077	0.85682	D	0.000000	T	0.65533	0.2700	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.65763	-0.6089	10	0.44086	T	0.13	-14.9227	19.6415	0.95760	0.0:0.0:1.0:0.0	.	1521	Q9Y490	TLN1_HUMAN	D	1521	ENSP00000316029:A1521D;ENSP00000442981:A1521D	ENSP00000316029:A1521D	A	-	2	0	TLN1	35697798	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.864000	0.99589	2.651000	0.90000	0.561000	0.74099	GCC	TLN1	-	NULL	ENSG00000137076		0.542	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	-	0	75	0	G	NM_006289		35707798	-1	tier1	-	no_errors	ENST00000314888	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	35707798	G	T	35707798	3	4	156	1	0	0	0	0	1	0	0	0	15994	1203	42	3	3155	3	TLN1	9	35707798	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	13736644	35707798	105505633	95	39755											
PTCH1	5727	genome.wustl.edu	37	chr9	98224234	98224235	+	Frame_Shift_Ins	INS	-	-	A																															cattcttgtaattgtttggcINSatgattttcccggtttccca																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr9:98224234_98224235insA	ENST00000331920.6	-	16	2905_2906	c.2606_2607insT	c.(2605-2607)atgfs	p.M869fs	PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.M718fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.M718fs|PTCH1_ENST00000430669.2_Frame_Shift_Ins_p.M803fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.M718fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.M868fs|PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.M803fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	869					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AATTGTTTGGCATGATTTTCCC	0.485																																																	0																																										SO:0001589	frameshift_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2607dupT	9.37:g.98224235_98224235dupA	ENSP00000332353:p.Met869fs		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Ins	INS	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.M869fs	ENST00000331920.6	37	c.2607_2606	CCDS6714.1	9																																																																																			PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.485	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2		0	98	0	-	NM_000264		98224235	-1	tier1		no_errors	ENST00000331920	ensembl	human	known	74_37	frame_shift_ins	57.01	46	61	INS	1.000:1.000	A	A	98224235	-	A	98224234	7	5	156	1	0	1	1	0	0	0	0	0	12772	710	25	0	1768	0	PTCH1	9	98224234	Frame_Shift_Ins	INS	-	TCGA-V5-A7RC-01B-11D-A403-09	62516436	98224234	42989197	96	39756											
PTCH1	5727	genome.wustl.edu	37	chr9	98278916	98278916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccttgccttgtcgctgcGggtctctttgtctcccctgt	0	15	9	17	2	2	0	0	0	2	0	5	0	2	0	5	1	2	1	5	1	0	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr9:98278916G>T	ENST00000375274.2	-	1	331	c.187C>A	c.(187-189)Cgc>Agc	p.R63S	PTCH1_ENST00000430669.2_5'UTR|RP11-435O5.4_ENST00000604650.1_RNA|PTCH1_ENST00000468211.2_5'UTR|PTCH1_ENST00000437951.1_5'UTR			Q13635	PTC1_HUMAN	patched 1	0					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.R63S(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TTGTCGCTGCGGGTCTCTTTG	0.512																																																	2	Substitution - Missense(2)	lung(2)											121	123	123					9																	98278916		1907	4102	6009	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000375274.2:c.187C>A	9.37:g.98278916G>T	ENSP00000364423:p.Arg63Ser		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.R63S	ENST00000375274.2	37	c.187	CCDS47995.1	9	.	.	.	.	.	.	.	.	.	.	g	8.524	0.869522	0.17322	.	.	ENSG00000185920	ENST00000375274	D	0.89939	-2.59	2.62	-2.36	0.06663	.	.	.	.	.	T	0.73946	0.3652	.	.	.	0.58432	D	0.999995	B	0.18166	0.026	B	0.06405	0.002	T	0.56792	-0.7920	8	0.21540	T	0.41	.	0.6146	0.00767	0.3716:0.1714:0.2839:0.1731	.	63	Q13635-2	.	S	63	ENSP00000364423:R63S	ENSP00000364423:R63S	R	-	1	0	PTCH1	97318737	0.912000	0.30974	0.990000	0.47175	0.866000	0.49608	-0.116000	0.10724	-0.270000	0.09285	0.299000	0.19835	CGC	PTCH1	-	NULL	ENSG00000185920		0.512	PTCH1-007	KNOWN	basic|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000406923.1		0	32	0	G	NM_000264		98278916	-1			no_errors	ENST00000375274	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.733	T	T	98278916	G	T	98278916	3	4	156	1	0	0	0	0	1	0	0	0	12772	1116	39	2	4457	2	PTCH1	9	98278916	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	54682	98278916	42934515	97	39757											
OR13C5	138799	genome.wustl.edu	37	chr9	107360968	107360968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcaccacagtcagacgagCtgagcaggtagaggaaggtt	13	7	13	8	1	2	3	2	1	0	2	2	5	2	4	1	3	2	4	1	3	3	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr9:107360968C>A	ENST00000374779.2	-	1	820	c.727G>T	c.(727-729)Gct>Tct	p.A243S		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	243						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						GTCAGACGAGCTGAGCAGGTA	0.423																																																	0													143	126	132					9																	107360968		2203	4300	6503	SO:0001583	missense	0				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.727G>T	9.37:g.107360968C>A	ENSP00000363911:p.Ala243Ser		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A243S	ENST00000374779.2	37	c.727	CCDS35091.1	9	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438765	0.43326	.	.	ENSG00000255800	ENST00000374779	T	0.34667	1.35	4.03	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35870	U	0.002932	T	0.20007	0.0481	N	0.05124	-0.11	0.23820	N	0.99676	P	0.34826	0.471	P	0.44732	0.459	T	0.34601	-0.9822	10	0.02654	T	1	.	9.0624	0.36442	0.2194:0.7806:0.0:0.0	.	243	Q8NGS8	O13C5_HUMAN	S	243	ENSP00000363911:A243S	ENSP00000363911:A243S	A	-	1	0	OR13C5	106400789	0.002000	0.14202	0.779000	0.31741	0.581000	0.36288	-0.068000	0.11561	2.098000	0.63641	0.423000	0.28283	GCT	OR13C5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000255800		0.423	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C5	HGNC	protein_coding	OTTHUMT00000053479.2		0	53	0	C	NM_001004482		107360968	-1			no_errors	ENST00000374779	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.786	A	A	107360968	C	A	107360968	3	1	156	1	0	0	0	0	1	0	0	0	10976	797	28	3	231	3	OR13C5	9	107360968	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	9082052	107360968	33852463	98	39758											
CIZ1	25792	genome.wustl.edu	37	chr9	130947923	130947923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttcatggggaccccaacaGgaggaggtcccagcaaggac	11	4	15	11	0	1	0	1	0	0	0	2	4	2	4	3	7	2	2	3	7	2	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr9:130947923G>T	ENST00000393608.1	-	5	693	c.491C>A	c.(490-492)cCt>cAt	p.P164H	CIZ1_ENST00000372954.1_Missense_Mutation_p.P140H|CIZ1_ENST00000541172.1_Missense_Mutation_p.P63H|CIZ1_ENST00000372948.3_Missense_Mutation_p.P164H|CIZ1_ENST00000372938.5_Missense_Mutation_p.P164H|CIZ1_ENST00000538431.1_Missense_Mutation_p.P164H|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000357558.5_Missense_Mutation_p.P164H|CIZ1_ENST00000277465.4_Missense_Mutation_p.P164H|CIZ1_ENST00000325721.8_Missense_Mutation_p.P140H	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	164					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						GACCCCAACAGGAGGAGGTCC	0.612																																																	0													65	65	65					9																	130947923		2203	4300	6503	SO:0001583	missense	0			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.491C>A	9.37:g.130947923G>T	ENSP00000377232:p.Pro164His		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.P164H	ENST00000393608.1	37	c.491	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380938	0.82792	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544;ENST00000420484	D;D;D;D;D;D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.44	5.44	0.79542	.	0.125535	0.37178	N	0.002210	D	0.88559	0.6469	L	0.34521	1.04	0.38891	D	0.957124	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.94;0.999;0.973;0.973;0.935;0.999;0.94	D	0.89976	0.4097	10	0.87932	D	0	-14.0367	16.1154	0.81302	0.0:0.0:1.0:0.0	.	164;164;164;164;140;164;140;164	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	H	140;164;164;164;140;131;63;164;140;164;164;91;164;164	ENSP00000362045:P140H;ENSP00000377232:P164H;ENSP00000439244:P164H;ENSP00000350169:P164H;ENSP00000320374:P140H;ENSP00000445057:P63H;ENSP00000277465:P164H;ENSP00000362039:P164H;ENSP00000362029:P164H;ENSP00000398011:P91H;ENSP00000321780:P164H;ENSP00000407265:P164H	ENSP00000277465:P164H	P	-	2	0	CIZ1	129987744	1.000000	0.71417	0.981000	0.43875	0.972000	0.66771	5.234000	0.65343	2.832000	0.97577	0.655000	0.94253	CCT	CIZ1	-	NULL	ENSG00000148337		0.612	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1		0	102	0	G	NM_012127		130947923	-1			no_errors	ENST00000538431	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.991	T	T	130947923	G	T	130947923	3	4	156	1	0	0	0	0	1	0	0	0	3448	1000	35	3	2257	3	CIZ1	9	130947923	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	23586955	130947923	10265508	99	39759											
NDOR1	27158	genome.wustl.edu	37	chr9	140110203	140110203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtggggcctggcactGgggtagcccccttccgagca	5	8	15	13	1	1	0	1	0	0	0	2	1	2	0	4	6	2	3	4	6	1	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr9:140110203G>T	ENST00000344894.5	+	11	1464	c.1381G>T	c.(1381-1383)Ggg>Tgg	p.G461W	NDOR1_ENST00000371521.4_Missense_Mutation_p.G461W|NDOR1_ENST00000427047.2_Missense_Mutation_p.G427W|NDOR1_ENST00000458322.2_Missense_Mutation_p.G454W	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCTGGCACTGGGGTAGCCCC	0.672																																																	0													35	40	39					9																	140110203		2202	4300	6502	SO:0001583	missense	0			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1381G>T	9.37:g.140110203G>T	ENSP00000343344:p.Gly461Trp			Missense_Mutation	SNP	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.G461W	ENST00000344894.5	37	c.1381	CCDS7036.1	9	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115193	0.56505	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	D;D;D;D	0.98249	-4.82;-4.65;-4.82;-4.82	4.68	3.71	0.42584	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	H	0.99705	4.715	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	0.97662	1.0161	10	0.87932	D	0	-4.8984	11.9384	0.52886	0.0:0.1771:0.8229:0.0	.	454;427;461;461	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	W	454;427;461;461	ENSP00000389905:G454W;ENSP00000394309:G427W;ENSP00000360576:G461W;ENSP00000343344:G461W	ENSP00000343344:G461W	G	+	1	0	NDOR1	139230024	1.000000	0.71417	0.218000	0.23776	0.403000	0.30841	4.893000	0.63199	2.153000	0.67306	0.561000	0.74099	GGG	NDOR1	-	pfam_OxRdtase_FAD/NAD-bd,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	ENSG00000188566		0.672	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDOR1	HGNC	protein_coding	OTTHUMT00000254704.1	-	0	78	0	G	NM_014434		140110203	1	tier1	-	no_errors	ENST00000371521	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.991	T	T	140110203	G	T	140110203	3	4	156	1	0	0	0	0	1	0	0	0	10288	1348	47	3	1423	3	NDOR1	9	140110203	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	9162280	140110203	1103228	100	39760											
C10orf140	387640	genome.wustl.edu	37	chr10	21805497	21805499	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcttcctcctcctcctcctCtccctcctcctcctcttcct																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr10:21805497_21805499delCTC	ENST00000449193.2	-	4	3505_3507	c.1253_1255delGAG	c.(1252-1257)ggagag>gag	p.G418del	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Del_p.G339del	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	337						nucleus (GO:0005634)											tcctcctcctctccctcctcctc	0.621																																																	0																																										SO:0001651	inframe_deletion	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1253_1255delGAG	10.37:g.21805497_21805499delCTC	ENSP00000410041:p.Gly418del		B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Del	DEL	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.G418in_frame_del	ENST00000449193.2	37	c.1255_1253	CCDS44363.1	10																																																																																			SKIDA1	-	NULL	ENSG00000180592		0.621	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2		0	44	0	CTC	NM_207371		21805499	-1	tier1		no_errors	ENST00000449193	ensembl	human	known	74_37	in_frame_del	12.82	34	5	DEL	0.948:0.561:0.435	-	-	21805499	CTC	-	21805497	7	5	156	1	0	1	0	1	0	0	0	0	1600	922	32	0	1475	0	C10orf140	10	21805497	In_Frame_Del	DEL	CTC	TCGA-V5-A7RC-01B-11D-A403-09		21805497	113729250	101	39761											
C10orf107	219621	genome.wustl.edu	37	chr10	63450334	63450334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacactacaagctatacgaGtttatgttctactctgccag	12	12	6	11	1	2	0	0	0	2	0	2	1	2	0	1	0	6	3	1	0	7	7			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr10:63450334G>T	ENST00000330194.2	+	4	548	c.243G>T	c.(241-243)gaG>gaT	p.E81D		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	81										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					AGCTATACGAGTTTATGTTCT	0.318																																																	0													133	132	132					10																	63450334		2203	4299	6502	SO:0001583	missense	0			BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.243G>T	10.37:g.63450334G>T	ENSP00000328698:p.Glu81Asp		Q5T1B8	Missense_Mutation	SNP	NULL	p.E81D	ENST00000330194.2	37	c.243	CCDS7262.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.18|19.18	3.776752|3.776752	0.70107|0.70107	.|.	.|.	ENSG00000183346|ENSG00000183346	ENST00000330194|ENST00000389639	.|.	.|.	.|.	5.48|5.48	3.23|3.23	0.37069|0.37069	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.57257|0.57257	0.2041|0.2041	M|M	0.80183|0.80183	2.485|2.485	0.30493|0.30493	N|N	0.771152|0.771152	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.59778|0.59778	-0.7390|-0.7390	9|5	0.66056|.	D|.	0.02|.	-17.5611|-17.5611	7.0234|7.0234	0.24926|0.24926	0.3421:0.0:0.6579:0.0|0.3421:0.0:0.6579:0.0	.|.	81|.	Q8IVU9|.	CJ107_HUMAN|.	D|I	81|70	.|.	ENSP00000328698:E81D|.	E|S	+|+	3|2	2|0	C10orf107|C10orf107	63120340|63120340	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	0.590000|0.590000	0.23954|0.23954	1.443000|1.443000	0.47586|0.47586	0.591000|0.591000	0.81541|0.81541	GAG|AGT	C10orf107	-	NULL	ENSG00000183346		0.318	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf107	HGNC	protein_coding	OTTHUMT00000048228.2	-	0	63	0	G	NM_173554		63450334	1	tier1	-	no_errors	ENST00000330194	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	63450334	G	T	63450334	3	4	156	1	0	0	0	0	1	0	0	0	1586	1020	36	3	253	3	C10orf107	10	63450334	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	41644837	63450334	72084413	102	39762											
ARID5B	84159	genome.wustl.edu	37	chr10	63852412	63852412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcacggtgggcattccgggGgcggatcagaaggccacaag	9	4	17	11	4	1	1	1	0	0	1	2	2	2	2	2	6	0	2	2	6	2	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr10:63852412G>T	ENST00000279873.7	+	10	3600	c.3190G>T	c.(3190-3192)Ggc>Tgc	p.G1064C	ARID5B_ENST00000309334.5_Missense_Mutation_p.G821C	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1064					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)					GCATTCCGGGGGCGGATCAGA	0.612																																																	0													71	69	70					10																	63852412		2203	4300	6503	SO:0001583	missense	0			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.3190G>T	10.37:g.63852412G>T	ENSP00000279873:p.Gly1064Cys		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G1064C	ENST00000279873.7	37	c.3190	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	G	3.586	-0.084663	0.07097	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.47869	0.84;0.83	5.72	2.02	0.26589	.	0.660669	0.17454	N	0.173679	T	0.30854	0.0778	N	0.22421	0.69	0.09310	N	0.999999	P	0.45348	0.856	B	0.39419	0.299	T	0.11941	-1.0567	10	0.62326	D	0.03	-0.122	9.0744	0.36513	0.4416:0.0:0.5584:0.0	.	1064	Q14865	ARI5B_HUMAN	C	1064;821	ENSP00000279873:G1064C;ENSP00000308862:G821C	ENSP00000279873:G1064C	G	+	1	0	ARID5B	63522418	0.995000	0.38212	0.022000	0.16811	0.051000	0.14879	1.390000	0.34464	0.589000	0.29677	-0.136000	0.14681	GGC	ARID5B	-	NULL	ENSG00000150347		0.612	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	-	0	27	0	G	XM_084482		63852412	1	tier1	-	no_errors	ENST00000279873	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.309	T	T	63852412	G	T	63852412	3	4	156	1	0	0	0	0	1	0	0	0	922	1232	43	3	3228	3	ARID5B	10	63852412	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	402078	63852412	71682335	103	39763											
TTC18	118491	genome.wustl.edu	37	chr10	75091010	75091010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctctacaggccaaagccgGcaatcggcaattcgcttctg	10	9	9	13	3	2	0	0	0	2	0	5	0	2	0	2	3	2	3	2	3	4	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr10:75091010G>A	ENST00000310715.3	-	9	1032	c.912C>T	c.(910-912)tgC>tgT	p.C304C	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.C304C|TTC18_ENST00000394865.1_Silent_p.C304C|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		304						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)					GCCAAAGCCGGCAATCGGCAA	0.378																																																	0													41	43	43					10																	75091010		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000310715.3:c.912C>T	10.37:g.75091010G>A			C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.C304	ENST00000310715.3	37	c.912	CCDS7324.3	10																																																																																			TTC18	-	NULL	ENSG00000156042		0.378	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding			0	68	0	G			75091010	-1			no_errors	ENST00000310715	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	A	A	75091010	G	A	75091010	2	1	156	1	0	0	0	0	0	0	0	1	16734	1195	42	3		3	TTC18	10	75091010	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	11238598	75091010	60443737	104	39764											
ALDH18A1	5832	genome.wustl.edu	37	chr10	97386519	97386519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgccatttctccctgctGctcaacagtagggcctgcaa	7	10	9	15	2	2	0	1	0	1	0	4	0	2	0	3	1	4	4	3	1	3	2	rs11541778		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr10:97386519G>T	ENST00000371224.2	-	10	1230	c.1093C>A	c.(1093-1095)Cag>Aag	p.Q365K	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.Q363K	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	365	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TCTCCCTGCTGCTCAACAGTA	0.448																																																	0													136	107	117					10																	97386519		2203	4300	6503	SO:0001583	missense	0			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1093C>A	10.37:g.97386519G>T	ENSP00000360268:p.Gln365Lys		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.Q365K	ENST00000371224.2	37	c.1093	CCDS7443.1	10	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288902	0.59976	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.71817	-0.6;-0.6	5.96	5.96	0.96718	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.047918	0.85682	D	0.000000	T	0.68072	0.2961	L	0.41632	1.29	0.80722	D	1	B;B	0.18310	0.027;0.021	B;B	0.31290	0.127;0.077	T	0.61893	-0.6969	10	0.41790	T	0.15	-17.1899	17.9158	0.88950	0.0:0.0:1.0:0.0	.	365;363	P54886;P54886-2	P5CS_HUMAN;.	K	365;363	ENSP00000360268:Q365K;ENSP00000360265:Q363K	ENSP00000360265:Q363K	Q	-	1	0	ALDH18A1	97376509	1.000000	0.71417	0.999000	0.59377	0.781000	0.44180	8.968000	0.93407	2.832000	0.97577	0.655000	0.94253	CAG	ALDH18A1	-	superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn	ENSG00000059573		0.448	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	-	0	88	0	G	NM_002860		97386519	-1	tier1	-	no_errors	ENST00000371224	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	97386519	G	T	97386519	3	4	156	1	0	0	0	0	1	0	0	0	489	1328	46	3	1330	3	ALDH18A1	10	97386519	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	22295509	97386519	38148228	105	39765											
HPSE2	60495	genome.wustl.edu	37	chr10	100242539	100242539	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacccacgaacgtagttgtgGctgagatccagagaaagaga	14	6	13	8	2	0	3	0	1	0	3	1	8	1	3	2	1	1	3	2	1	3	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr10:100242539G>T	ENST00000370552.3	-	11	1526	c.1467C>A	c.(1465-1467)aaC>aaA	p.N489K	HPSE2_ENST00000370549.1_Splice_Site_p.N431K|HPSE2_ENST00000370546.1_Splice_Site_p.N489K|HPSE2_ENST00000404542.1_Splice_Site_p.N377K	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	489					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)		CGTAGTTGTGGCTGAGATCCA	0.403																																																	0													79	71	73					10																	100242539		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1467-1C>A	10.37:g.100242539G>T			Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.N489K	ENST00000370552.3	37	c.1467	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164279	0.57476	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.45668	0.89;0.9;1.5;0.91	5.34	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	L	0.59436	1.845	0.58432	D	0.999999	D;P;B;B	0.67145	0.996;0.51;0.421;0.141	D;B;B;B	0.75484	0.986;0.154;0.254;0.091	T	0.51068	-0.8752	10	0.23891	T	0.37	.	9.542	0.39257	0.2185:0.0:0.7815:0.0	.	377;489;431;489	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	K	489;431;489;377	ENSP00000359583:N489K;ENSP00000359580:N431K;ENSP00000359577:N489K;ENSP00000384384:N377K	ENSP00000359577:N489K	N	-	3	2	HPSE2	100232529	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.290000	0.51755	1.407000	0.46875	0.655000	0.94253	AAC	HPSE2	-	NULL	ENSG00000172987		0.403	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	-	0	71	0	G	NM_021828	Missense_Mutation	100242539	-1	tier1	-	no_errors	ENST00000370552	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	100242539	G	T	100242539	5	4	156	1	0	0	0	0	0	0	1	0	7372	1217	42	3	357	3	HPSE2	10	100242539	Splice_Site	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	2856020	100242539	35292208	106	39766											
SORCS1	114815	genome.wustl.edu	37	chr10	108459009	108459009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgttgccctcagggcctCtgctgctctggacattctcc	4	13	10	14	0	4	1	1	1	3	0	5	2	4	2	3	2	3	3	3	2	0	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr10:108459009C>G	ENST00000263054.6	-	9	1383	c.1376G>C	c.(1375-1377)aGa>aCa	p.R459T	SORCS1_ENST00000344440.6_Missense_Mutation_p.R459T|SORCS1_ENST00000369698.1_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	459					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)		CTCAGGGCCTCTGCTGCTCTG	0.547																																																	0													247	187	207					10																	108459009		2203	4300	6503	SO:0001583	missense	0			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.1376G>C	10.37:g.108459009C>G	ENSP00000263054:p.Arg459Thr		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.R459T	ENST00000263054.6	37	c.1376	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897711	0.72639	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.33865	1.39;1.39	6.1	6.1	0.99115	VPS10 (1);	0.131035	0.53938	D	0.000058	T	0.53916	0.1826	M	0.68317	2.08	0.32679	N	0.51573	P;P;P;P;P	0.52577	0.615;0.954;0.734;0.615;0.734	P;P;P;P;P	0.58928	0.517;0.848;0.71;0.517;0.71	T	0.63019	-0.6730	9	.	.	.	-19.2398	14.2684	0.66135	0.0:0.9242:0.0:0.0758	.	459;459;459;459;459	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	T	459	ENSP00000263054:R459T;ENSP00000345964:R459T	.	R	-	2	0	SORCS1	108448999	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.783000	0.38664	2.902000	0.99343	0.650000	0.86243	AGA	SORCS1	-	smart_VPS10	ENSG00000108018		0.547	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	-	0	41	0	C	NM_052918		108459009	-1	tier1	-	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	38.64	27	17	SNP	1.000	G	G	108459009	C	G	108459009	3	3	156	1	0	0	0	0	1	0	0	0	14975	913	32	5	2436	5	SORCS1	10	108459009	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	8216470	108459009	27075738	107	39767											
KNDC1	85442	genome.wustl.edu	37	chr10	135011900	135011900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagggcccgtgcccggcCagcacccctgcggtgaagaa	7	4	14	16	3	0	2	0	1	0	1	0	2	0	2	6	3	4	1	6	3	2	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr10:135011900C>A	ENST00000304613.3	+	13	1987	c.1966C>A	c.(1966-1968)Cag>Aag	p.Q656K	KNDC1_ENST00000368572.2_Missense_Mutation_p.Q656K|KNDC1_ENST00000368571.2_Missense_Mutation_p.Q591K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	656					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)		CGTGCCCGGCCAGCACCCCTG	0.697																																																	0													19	18	18					10																	135011900		2184	4291	6475	SO:0001583	missense	0			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.1966C>A	10.37:g.135011900C>A	ENSP00000304437:p.Gln656Lys		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q656K	ENST00000304613.3	37	c.1966	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388191	0.25118	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.12465	2.68;2.68;2.68	3.91	0.125	0.14718	.	0.935464	0.08904	N	0.876816	T	0.10165	0.0249	L	0.50333	1.59	0.09310	N	1	B;B;B	0.24823	0.112;0.003;0.005	B;B;B	0.23574	0.047;0.005;0.002	T	0.42531	-0.9446	10	0.02654	T	1	-0.0291	6.2055	0.20600	0.3817:0.3161:0.3022:0.0	.	656;591;656	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	K	656;656;591	ENSP00000304437:Q656K;ENSP00000357561:Q656K;ENSP00000357560:Q591K	ENSP00000304437:Q656K	Q	+	1	0	KNDC1	134861890	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	1.263000	0.33004	0.168000	0.19655	0.313000	0.20887	CAG	KNDC1	-	NULL	ENSG00000171798		0.697	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	-	0	61	0	C	NM_152643		135011900	1	tier1	-	no_errors	ENST00000368572	ensembl	human	known	74_37	missense	27.91	31	12	SNP	0.000	A	A	135011900	C	A	135011900	3	1	156	1	0	0	0	0	1	0	0	0	8453	595	21	3	2016	3	KNDC1	10	135011900	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	26552891	135011900	522847	108	39768											
HBE1	3046	genome.wustl.edu	37	chr11	5290883	5290883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgtcaaaaaatctctggGtccaggggtaaacaacgagg	14	7	12	8	1	2	0	1	0	1	0	4	1	3	0	1	4	3	2	1	4	6	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:5290883G>T	ENST00000380237.1	-	4	460	c.116C>A	c.(115-117)aCc>aAc	p.T39N	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.T39N			P02100	HBE_HUMAN	hemoglobin, epsilon 1	39					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAATCTCTGGGTCCAGGGGTA	0.463																																																	0													64	65	64					11																	5290883		2201	4297	6498	SO:0001583	missense	0			BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.116C>A	11.37:g.5290883G>T	ENSP00000369586:p.Thr39Asn		Q6FH44	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.T39N	ENST00000380237.1	37	c.116	CCDS7756.1	11	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970192	0.92855	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.89875	-2.58;-2.58;-2.58	6.02	6.02	0.97574	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	U	0.000000	D	0.96747	0.8938	H	0.98005	4.125	0.80722	D	1	P	0.44690	0.841	P	0.60117	0.869	D	0.97297	0.9928	10	0.87932	D	0	-29.9875	19.1686	0.93567	0.0:0.0:1.0:0.0	.	39	P02100	HBE_HUMAN	N	39	ENSP00000369586:T39N;ENSP00000292896:T39N;ENSP00000380104:T39N	ENSP00000292896:T39N	T	-	2	0	HBE1	5247459	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.440000	0.97547	2.875000	0.98604	0.644000	0.83932	ACC	HBE1	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	ENSG00000213931		0.463	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBE1	HGNC	protein_coding	OTTHUMT00000142973.2	-	0	60	0	G	NM_005330		5290883	-1	tier1	-	no_errors	ENST00000292896	ensembl	human	known	74_37	missense	48.78	21	20	SNP	1.000	T	T	5290883	G	T	5290883	3	4	156	1	0	0	0	0	1	0	0	0	7007	1261	44	3	335	3	HBE1	11	5290883	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09		5290883	129715633	109	39769											
OR56A3	390083	genome.wustl.edu	37	chr11	5968694	5968694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctcagcctccttttcCtcttggccgtaggggccaac	4	11	9	17	1	2	0	1	0	1	0	4	0	4	0	7	3	3	1	7	3	2	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:5968694C>A	ENST00000329564.6	+	1	125	c.118C>A	c.(118-120)Ctc>Atc	p.L40I	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	40						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)		CCTCCTTTTCCTCTTGGCCGT	0.592																																																	0													103	107	105					11																	5968694		2201	4296	6497	SO:0001583	missense	0				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.118C>A	11.37:g.5968694C>A	ENSP00000331572:p.Leu40Ile		A6NN77|Q6IFF7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L40I	ENST00000329564.6	37	c.118	CCDS41614.1	11	.	.	.	.	.	.	.	.	.	.	C	7.365	0.625720	0.14257	.	.	ENSG00000184478	ENST00000329564	T	0.16457	2.34	5.12	2.13	0.27403	.	0.529172	0.17335	N	0.177980	T	0.10465	0.0256	L	0.38692	1.165	0.22811	N	0.998703	B	0.10296	0.003	B	0.10450	0.005	T	0.37033	-0.9723	10	0.15066	T	0.55	-24.8603	4.078	0.09912	0.1533:0.4654:0.2978:0.0835	.	40	Q8NH54	O56A3_HUMAN	I	40	ENSP00000331572:L40I	ENSP00000331572:L40I	L	+	1	0	OR56A3	5925270	0.000000	0.05858	0.850000	0.33497	0.503000	0.33858	-1.921000	0.01569	0.301000	0.22738	0.644000	0.83932	CTC	OR56A3	-	prints_GPCR_Rhodpsn	ENSG00000184478		0.592	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR56A3	HGNC	protein_coding	OTTHUMT00000383753.1	-	0	36	0	C	NM_001003443		5968694	1	tier1	-	no_errors	ENST00000329564	ensembl	human	known	74_37	missense	19.51	33	8	SNP	0.711	A	A	5968694	C	A	5968694	3	1	156	1	0	0	0	0	1	0	0	0	11173	681	24	3	120	3	OR56A3	11	5968694	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	677811	5968694	129037822	110	39770											
ZNF214	7761	genome.wustl.edu	37	chr11	7021809	7021809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacatgaagtactgaactccGattaaaactcttaccacact	16	10	4	11	1	1	2	0	2	1	0	2	3	2	2	2	0	5	1	2	0	7	3	rs547254936		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:7021809G>A	ENST00000278314.4	-	3	1420	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.R369W	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ACTGAACTCCGATTAAAACTC	0.393																																					Ovarian(22;251 657 736 21522 46864)												0													94	97	96					11																	7021809		2201	4294	6495	SO:0001583	missense	0			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1105C>T	11.37:g.7021809G>A	ENSP00000278314:p.Arg369Trp		B2R8Q1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R369W	ENST00000278314.4	37	c.1105	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440990	0.25900	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.36520	1.25;1.25	3.44	3.44	0.39384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.215125	0.23807	N	0.044371	T	0.22205	0.0535	N	0.16307	0.4	0.26765	N	0.969922	B	0.23377	0.084	B	0.15052	0.012	T	0.11941	-1.0567	10	0.33141	T	0.24	.	13.182	0.59660	0.0:0.0:1.0:0.0	.	369	Q9UL59	ZN214_HUMAN	W	369	ENSP00000278314:R369W;ENSP00000445373:R369W	ENSP00000278314:R369W	R	-	1	2	ZNF214	6978385	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.193000	0.09573	2.225000	0.72522	0.655000	0.94253	CGG	ZNF214	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000149050		0.393	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1	-	0	72	0	G			7021809	-1	tier1	-	no_errors	ENST00000278314	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.976	A	A	7021809	G	A	7021809	3	1	156	1	0	0	0	0	1	0	0	0	17818	1057	37	1	719	1	ZNF214	11	7021809	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	1053115	7021809	127984707	111	39771											
USH1C	10083	genome.wustl.edu	37	chr11	17546007	17546007	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcactcacctccaatccCacctcagcagacagggagcc	10	5	8	18	1	3	1	3	0	0	1	5	2	5	2	5	1	2	1	5	1	1	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:17546007C>A	ENST00000318024.4	-	9	858	c.750G>T	c.(748-750)gtG>gtT	p.V250V	USH1C_ENST00000527720.1_Silent_p.V219V|USH1C_ENST00000005226.7_Silent_p.V250V|USH1C_ENST00000527020.1_Silent_p.V250V	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	250	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCTCCAATCCCACCTCAGCAG	0.612																																																	0													53	45	48					11																	17546007		2197	4287	6484	SO:0001819	synonymous_variant	0			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.750G>T	11.37:g.17546007C>A			A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V250	ENST00000318024.4	37	c.750	CCDS31438.1	11																																																																																			USH1C	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000006611		0.612	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	-	0	31	0	C	NM_005709		17546007	-1	tier1	-	no_errors	ENST00000005226	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.609	A	A	17546007	C	A	17546007	2	1	156	1	0	0	0	0	0	0	0	1	17083	581	21	3		3	USH1C	11	17546007	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	10524198	17546007	117460509	112	39772											
PAMR1	25891	genome.wustl.edu	37	chr11	35456131	35456131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaaacaactttcaggtCtgctgtcttgatcatggtga	10	12	8	11	0	4	2	2	2	2	0	4	2	4	2	2	2	3	1	2	2	3	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:35456131C>A	ENST00000378880.2	-	10	2000	c.1555G>T	c.(1555-1557)Gac>Tac	p.D519Y	PAMR1_ENST00000378878.3_Missense_Mutation_p.D408Y|PAMR1_ENST00000278360.3_Missense_Mutation_p.D536Y|PAMR1_ENST00000532848.1_Missense_Mutation_p.D479Y	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	519	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.D536Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACTTTCAGGTCTGCTGTCTTG	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)											133	118	123					11																	35456131		2202	4298	6500	SO:0001583	missense	0				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.1555G>T	11.37:g.35456131C>A	ENSP00000368158:p.Asp519Tyr		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.D536Y	ENST00000378880.2	37	c.1606	CCDS31460.1	11	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235824	0.58886	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57	5.36	5.36	0.76844	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.252679	0.45867	D	0.000339	D	0.91851	0.7421	L	0.41632	1.29	0.44890	D	0.9979	D;D;P	0.71674	0.998;0.963;0.955	D;P;P	0.65323	0.934;0.776;0.748	D	0.92704	0.6177	10	0.87932	D	0	.	19.0909	0.93227	0.0:1.0:0.0:0.0	.	408;519;536	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	Y	536;519;408;479;496	ENSP00000278360:D536Y;ENSP00000368158:D519Y;ENSP00000368156:D408Y;ENSP00000433868:D479Y;ENSP00000432591:D496Y	ENSP00000278360:D536Y	D	-	1	0	PAMR1	35412707	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.087000	0.50167	2.526000	0.85167	0.555000	0.69702	GAC	PAMR1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000149090		0.547	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1		0	25	0	C	NM_015430		35456131	-1			no_errors	ENST00000278360	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.998	A	A	35456131	C	A	35456131	3	1	156	1	0	0	0	0	1	0	0	0	11452	913	32	3	615	3	PAMR1	11	35456131	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	17910124	35456131	99550385	113	39773											
VWCE	220001	genome.wustl.edu	37	chr11	61048524	61048524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggaggatgtgggtagtCgtggggtgggagatggcagg	8	7	24	2	1	0	1	0	0	0	1	1	4	0	3	0	9	0	2	0	9	2	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:61048524C>A	ENST00000335613.5	-	8	1357	c.971G>T	c.(970-972)cGa>cTa	p.R324L		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	324						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						TGTGGGTAGTCGTGGGGTGGG	0.706																																																	0													31	35	34					11																	61048524		2201	4297	6498	SO:0001583	missense	0			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.971G>T	11.37:g.61048524C>A	ENSP00000334186:p.Arg324Leu		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.R324L	ENST00000335613.5	37	c.971	CCDS8002.1	11	.	.	.	.	.	.	.	.	.	.	C	2.148	-0.395210	0.04899	.	.	ENSG00000167992	ENST00000335613	T	0.68903	-0.36	5.51	-1.08	0.09936	.	0.959360	0.08605	N	0.920887	T	0.33614	0.0869	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16012	-1.0417	10	0.19590	T	0.45	.	5.5914	0.17303	0.286:0.2426:0.4714:0.0	.	324	Q96DN2	VWCE_HUMAN	L	324	ENSP00000334186:R324L	ENSP00000334186:R324L	R	-	2	0	VWCE	60805100	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.304000	0.08199	-0.487000	0.06735	-1.048000	0.02349	CGA	VWCE	-	NULL	ENSG00000167992		0.706	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1	-	0	83	0	C	NM_152718		61048524	-1	tier1	-	no_errors	ENST00000335613	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.000	A	A	61048524	C	A	61048524	3	1	156	1	0	0	0	0	1	0	0	0	17294	884	31	2	1948	2	VWCE	11	61048524	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	25592393	61048524	73957992	114	39774											
EML3	256364	genome.wustl.edu	37	chr11	62371469	62371469	+	Missense_Mutation	SNP	T	T	C	0	1	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	atcactggaaacactatagaTgtagatcacgttgtcatggg	13	11	10	7	1	3	2	3	0	0	2	3	3	3	3	0	2	1	2	0	2	4	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:62371469T>C	ENST00000394773.2	-	18	2423	c.2116A>G	c.(2116-2118)Atc>Gtc	p.I706V	EML3_ENST00000278845.4_Missense_Mutation_p.I707V|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.I706V|EML3_ENST00000531557.1_Missense_Mutation_p.I489V|MTA2_ENST00000278823.2_5'Flank|MTA2_ENST00000527204.1_5'Flank|EML3_ENST00000494176.2_Missense_Mutation_p.I678V|RP11-831H9.3_ENST00000532626.1_RNA	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	706						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						ACACTATAGATGTAGATCACG	0.532																																																	0													111	95	100					11																	62371469		2202	4299	6501	SO:0001583	missense	0			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.2116A>G	11.37:g.62371469T>C	ENSP00000378254:p.Ile706Val		Q6ZQW7|Q8NA55	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I706V	ENST00000394773.2	37	c.2116	CCDS8023.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.72|14.72	2.619622|2.619622	0.46736|0.46736	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	.|T;T;T;T;T	.|0.60040	.|1.13;1.13;0.22;1.66;1.66	5.5|5.5	5.5|5.5	0.81552|0.81552	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.049163	.|0.85682	.|N	.|0.000000	T|T	0.65502|0.65502	0.2697|0.2697	L|L	0.35723|0.35723	1.085|1.085	0.45272|0.45272	D|D	0.998273|0.998273	.|P;P;B;D;P	.|0.53151	.|0.843;0.87;0.148;0.958;0.607	.|P;P;B;D;B	.|0.70716	.|0.628;0.673;0.085;0.97;0.224	T|T	0.62756|0.62756	-0.6787|-0.6787	5|10	.|0.31617	.|T	.|0.26	-22.4873|-22.4873	13.5629|13.5629	0.61799|0.61799	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|706;706;489;707;678	.|Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.|.;EMAL3_HUMAN;.;.;.	R|V	700|706;707;489;678;706	.|ENSP00000378254:I706V;ENSP00000278845:I707V;ENSP00000433417:I489V;ENSP00000435064:I678V;ENSP00000434513:I706V	.|ENSP00000278845:I707V	H|I	-|-	2|1	0|0	EML3|EML3	62128045|62128045	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.969000|1.969000	0.40510|0.40510	2.097000|2.097000	0.63578|0.63578	0.454000|0.454000	0.30748|0.30748	CAT|ATC	EML3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000149499		0.532	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	-	0	29	0	T	NM_153265		62371469	-1	tier1	-	no_errors	ENST00000529309	ensembl	human	known	74_37	missense	25.00	27	9	SNP	1.000	C	C	62371469	T	C	62371469	3	2	156	1	0	0	0	0	1	0	0	0	5114	1464	51	4	594	4	EML3	11	62371469	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	1322945	62371469	72635047	115	39775											
SLC22A24	283238	genome.wustl.edu	37	chr11	62850786	62850786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	acaatatctggcttattcgaCgacccatatgattcagtgtc	11	13	7	10	2	2	1	1	1	1	0	4	3	2	1	1	1	0	1	1	1	4	5	rs373291441		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:62850786C>A	ENST00000417740.1	-	7	1655	c.1214G>T	c.(1213-1215)cGt>cTt	p.R405L		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						GCTTATTCGACGACCCATATG	0.473																																																	0													151	122	130					11																	62850786		692	1591	2283	SO:0001583	missense	0				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.1214G>T	11.37:g.62850786C>A	ENSP00000396586:p.Arg405Leu			Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R405L	ENST00000417740.1	37	c.1214		11	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918691	0.52546	.	.	ENSG00000197658	ENST00000417740	D	0.83914	-1.78	3.8	1.92	0.25849	.	.	.	.	.	D	0.93507	0.7928	H	0.98388	4.22	0.09310	N	0.999997	D	0.76494	0.999	D	0.77557	0.99	D	0.84104	0.0397	9	0.87932	D	0	.	7.7017	0.28627	0.0:0.7857:0.0:0.2143	.	405	C9JC66	.	L	405	ENSP00000396586:R405L	ENSP00000396586:R405L	R	-	2	0	SLC22A24	62607362	0.001000	0.12720	0.016000	0.15963	0.136000	0.21042	0.228000	0.17814	0.307000	0.22880	0.596000	0.82720	CGT	SLC22A24	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000197658		0.473	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1		0	42	0	C	NM_173586		62850786	-1			no_errors	ENST00000417740	ensembl	human	putative	74_37	missense	5.26	36	2	SNP	0.078	A	A	62850786	C	A	62850786	3	1	156	1	0	0	0	0	1	0	0	0	14498	536	19	2	455	2	SLC22A24	11	62850786	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	479317	62850786	72155730	116	39776											
P4HA3	283208	genome.wustl.edu	37	chr11	74013463	74013463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagagaaaagagccgtttgGggctgtacaggtcagtgatg	11	9	16	5	1	1	4	1	2	0	2	1	5	1	4	1	3	2	3	1	3	3	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:74013463G>T	ENST00000331597.4	-	3	563	c.518C>A	c.(517-519)cCc>cAc	p.P173H	P4HA3_ENST00000427714.2_Missense_Mutation_p.P173H	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	173						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)					GAGCCGTTTGGGGCTGTACAG	0.517																																																	0													118	121	120					11																	74013463		2200	4293	6493	SO:0001583	missense	0			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.518C>A	11.37:g.74013463G>T	ENSP00000332170:p.Pro173His		A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.P173H	ENST00000331597.4	37	c.518	CCDS8230.1	11	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080039	0.76528	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.56103	0.53;0.48	4.96	4.96	0.65561	.	0.053759	0.85682	D	0.000000	T	0.67813	0.2933	L	0.56769	1.78	0.48135	D	0.999597	D;B	0.89917	1.0;0.086	D;B	0.68192	0.956;0.029	T	0.67749	-0.5590	10	0.51188	T	0.08	-22.4681	16.0853	0.81042	0.0:0.0:1.0:0.0	.	173;173	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	H	173	ENSP00000332170:P173H;ENSP00000401749:P173H	ENSP00000332170:P173H	P	-	2	0	P4HA3	73691111	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.454000	0.73493	2.727000	0.93392	0.563000	0.77884	CCC	P4HA3	-	NULL	ENSG00000149380		0.517	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HA3	HGNC	protein_coding	OTTHUMT00000382988.1	-	0	60	0	G	NM_182904		74013463	-1	tier1	-	no_errors	ENST00000331597	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	74013463	G	T	74013463	3	4	156	1	0	0	0	0	1	0	0	0	11397	1232	43	3	1160	3	P4HA3	11	74013463	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	11162677	74013463	60993053	117	39777											
FAT3	120114	genome.wustl.edu	37	chr11	92086682	92086682	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	atagaagatgcaaatgaccaCaccccagaatttcagcaacc	17	6	6	12	0	1	4	1	1	0	3	1	4	1	4	4	0	3	2	4	0	5	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:92086682C>G	ENST00000298047.6	+	1	1421	c.1404C>G	c.(1402-1404)caC>caG	p.H468Q	FAT3_ENST00000541502.1_Missense_Mutation_p.H468Q|FAT3_ENST00000409404.2_Missense_Mutation_p.H468Q|FAT3_ENST00000525166.1_Missense_Mutation_p.H318Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	468	Cadherin 4. {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)				CAAATGACCACACCCCAGAAT	0.413										TCGA Ovarian(4;0.039)																																							0													74	73	73					11																	92086682		1961	4162	6123	SO:0001583	missense	0			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.1404C>G	11.37:g.92086682C>G	ENSP00000298047:p.His468Gln		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.H468Q	ENST00000298047.6	37	c.1404		11	.	.	.	.	.	.	.	.	.	.	C	6.876	0.531113	0.13127	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.93	1.98	0.26296	.	.	.	.	.	T	0.68659	0.3025	M	0.87827	2.91	0.31560	N	0.657612	D	0.53312	0.959	P	0.51777	0.679	T	0.72513	-0.4270	9	0.72032	D	0.01	.	8.9898	0.36017	0.0:0.6495:0.0:0.3505	.	468	Q8TDW7-3	.	Q	468;468;468;318	ENSP00000298047:H468Q;ENSP00000387040:H468Q;ENSP00000443786:H468Q;ENSP00000432586:H318Q	ENSP00000298047:H468Q	H	+	3	2	FAT3	91726330	0.745000	0.28261	1.000000	0.80357	0.219000	0.24729	0.114000	0.15520	0.409000	0.25649	0.655000	0.94253	CAC	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.413	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	46	0	C	NM_001008781		92086682	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	G	G	92086682	C	G	92086682	3	3	156	1	0	0	0	0	1	0	0	0	5713	477	17	5	1406	5	FAT3	11	92086682	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	18073219	92086682	42919834	118	39778											
MMP12	4321	genome.wustl.edu	37	chr11	102743837	102743837	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccataaaatttttctaaGtatctctggaaaaaaaaata	19	12	5	5	0	2	0	0	0	2	0	3	1	2	1	1	2	0	1	1	2	9	6			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:102743837G>T	ENST00000532855.1	-	0	204							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)	ATTTTTCTAAGTATCTCTGGA	0.328																																																	0													27	27	27					11																	102743837		1800	4071	5871			0			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.102743837G>T			B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	-	NULL	ENST00000532855.1	37	NULL		11																																																																																			MMP12	-	-	ENSG00000110347		0.328	MMP12-001	KNOWN	basic	processed_transcript	MMP12	HGNC	processed_transcript	OTTHUMT00000386646.1	-	0	45	0	G	NM_002426		102743837	-1	tier1	-	no_errors	ENST00000326227	ensembl	human	known	74_37	rna	10.00	36	4	SNP	0.998	T	T	102743837	G	T	102743837	1	4	156	0	1	0	0	0	0	0	0	0	9689	1024	36	3		3	MMP12	11	102743837	RNA	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	10657155	102743837	32262679	119	39779											
ABCG4	64137	genome.wustl.edu	37	chr11	119027325	119027325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggcgtggtcaccaacCtgatcccctatctaaaggga	12	8	9	12	1	3	1	2	1	1	0	4	2	4	2	4	3	1	0	4	3	5	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:119027325C>A	ENST00000449422.2	+	8	1050	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	ABCG4_ENST00000307417.3_Missense_Mutation_p.L288M|ABCG4_ENST00000531739.1_Missense_Mutation_p.L288M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	288	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)		GGTCACCAACCTGATCCCCTA	0.582																																																	0													148	141	143					11																	119027325		2200	4295	6495	SO:0001583	missense	0			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.862C>A	11.37:g.119027325C>A	ENSP00000406874:p.Leu288Met		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L288M	ENST00000449422.2	37	c.862	CCDS8415.1	11	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054523	0.75960	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.35789	1.29;1.29;1.29	5.74	3.85	0.44370	ABC transporter-like (1);	0.123850	0.56097	D	0.000027	T	0.49081	0.1536	L	0.41961	1.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.41910	-0.9482	10	0.52906	T	0.07	-13.3703	11.0937	0.48132	0.1289:0.8042:0.0:0.0669	.	288	Q9H172	ABCG4_HUMAN	M	288	ENSP00000304111:L288M;ENSP00000406874:L288M;ENSP00000434318:L288M	ENSP00000304111:L288M	L	+	1	2	ABCG4	118532535	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.778000	0.68940	0.743000	0.32719	0.655000	0.94253	CTG	ABCG4	-	pfscan_ABC_transporter-like	ENSG00000172350		0.582	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	-	0	29	0	C	NM_022169		119027325	1	tier1	-	no_errors	ENST00000307417	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	A	A	119027325	C	A	119027325	3	1	156	1	0	0	0	0	1	0	0	0	70	680	24	3	888	3	ABCG4	11	119027325	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	16283488	119027325	15979191	120	39780											
FOXRED1	55572	genome.wustl.edu	37	chr11	126145250	126145250	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaaggttggtttgacccCtggtgtctgctccaggggct	5	11	15	10	1	1	1	0	1	1	0	2	3	2	1	3	5	1	4	3	5	1	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr11:126145250C>A	ENST00000263578.5	+	6	734	c.660C>A	c.(658-660)ccC>ccA	p.P220P	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Silent_p.P206P|FOXRED1_ENST00000442061.2_Silent_p.P50P	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	220						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GGTTTGACCCCTGGTGTCTGC	0.527																																																	0													107	99	102					11																	126145250		2201	4298	6499	SO:0001819	synonymous_variant	0				CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.660C>A	11.37:g.126145250C>A			B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Silent	SNP	pfam_FAD-dep_OxRdtase	p.P220	ENST00000263578.5	37	c.660	CCDS8471.1	11																																																																																			FOXRED1	-	pfam_FAD-dep_OxRdtase	ENSG00000110074		0.527	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED1	HGNC	protein_coding	OTTHUMT00000386434.1	-	0	56	0	C	NM_017547		126145250	1	tier1	-	no_errors	ENST00000263578	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.990	A	A	126145250	C	A	126145250	2	1	156	1	0	0	0	0	0	0	0	1	6057	668	24	3		3	FOXRED1	11	126145250	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	7117925	126145250	8861266	121	39781											
TAS2R13	50838	genome.wustl.edu	37	chr12	11061603	11061603	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gatgctgaagattgtagcaaGccagagattgaagtgattag	14	10	13	4	0	0	5	0	3	0	2	0	7	0	5	1	0	3	3	1	0	5	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr12:11061603G>A	ENST00000390677.2	-	1	558	c.295C>T	c.(295-297)Ctt>Ttt	p.L99F	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	99					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						ATTGTAGCAAGCCAGAGATTG	0.353																																																	0													65	70	69					12																	11061603		2203	4300	6503	SO:0001583	missense	0			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.295C>T	12.37:g.11061603G>A	ENSP00000375095:p.Leu99Phe		Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.L99F	ENST00000390677.2	37	c.295	CCDS8635.1	12	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823700	0.32237	.	.	ENSG00000212128	ENST00000390677	T	0.00892	5.57	3.3	-0.396	0.12427	.	0.493528	0.16913	N	0.194407	T	0.00936	0.0031	N	0.25245	0.725	0.80722	D	1	B	0.33212	0.402	B	0.41691	0.364	T	0.67921	-0.5545	10	0.32370	T	0.25	.	5.6038	0.17369	0.5939:0.0:0.4061:0.0	.	99	Q9NYV9	T2R13_HUMAN	F	99	ENSP00000375095:L99F	ENSP00000375095:L99F	L	-	1	0	TAS2R13	10952870	0.172000	0.23043	0.993000	0.49108	0.998000	0.95712	-0.278000	0.08490	0.015000	0.14971	0.655000	0.94253	CTT	TAS2R13	-	pfam_TAS2_rcpt	ENSG00000212128		0.353	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R13	HGNC	protein_coding	OTTHUMT00000400229.1	-	0	171	0	G			11061603	-1	tier1	-	no_errors	ENST00000390677	ensembl	human	known	74_37	missense	31.20	86	39	SNP	0.993	A	A	11061603	G	A	11061603	3	1	156	1	0	0	0	0	1	0	0	0	15614	971	34	3	620	3	TAS2R13	12	11061603	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09		11061603	122790292	122	39782											
NACA	4666	genome.wustl.edu	37	chr12	57114751	57114752	+	Frame_Shift_Del	DEL	AG	AG	-																															cctcagagggaactttattaAgattagtctttggttctgag																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr12:57114751_57114752delAG	ENST00000454682.1	-	3	843_844	c.562_563delCT	c.(562-564)cttfs	p.L188fs	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Del_p.L188fs|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	188	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						AACTTTATTAAGATTAGTCTTT	0.49			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0																																										SO:0001589	frameshift_variant	0			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.562_563delCT	12.37:g.57114751_57114752delAG	ENSP00000403817:p.Leu188fs			Frame_Shift_Del	DEL	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.L188fs	ENST00000454682.1	37	c.563_562		12																																																																																			NACA	-	NULL	ENSG00000196531		0.49	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding			0	34	0	AG	NM_005594		57114752	-1	tier1		no_errors	ENST00000454682	ensembl	human	known	74_37	frame_shift_del	41.86	25	18	DEL	0.006:0.006	-	-	57114752	AG	-	57114751	7	5	156	1	0	1	0	1	0	0	0	0	10171	72	3	0	5701	0	NACA	12	57114751	Frame_Shift_Del	DEL	AG	TCGA-V5-A7RC-01B-11D-A403-09	46053148	57114751	76737144	123	39783											
CPSF6	11052	genome.wustl.edu	37	chr12	69656279	69656279	+	Silent	SNP	G	G	A																															agagaacgagagaggcaccgGgatcgtgaccgagaccgtga																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr12:69656279G>A	ENST00000435070.2	+	9	1706	c.1596G>A	c.(1594-1596)cgG>cgA	p.R532R	CPSF6_ENST00000266679.8_Silent_p.R569R|CPSF6_ENST00000551516.1_Missense_Mutation_p.G35E|CPSF6_ENST00000456847.3_Silent_p.R459R	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)			AGAGGCACCGGGATcgtgacc	0.488																																																	0													200	145	163					12																	69656279		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1596G>A	12.37:g.69656279G>A			A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	NULL	p.G35E	ENST00000435070.2	37	c.104	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568547	0.28003	.	.	ENSG00000111605	ENST00000551516	.	.	.	5.74	1.65	0.23941	.	.	.	.	.	T	0.23289	0.0563	.	.	.	0.25545	N	0.987144	.	.	.	.	.	.	T	0.22347	-1.0219	4	.	.	.	-6.2025	2.7884	0.05380	0.1391:0.1113:0.4077:0.3419	.	.	.	.	E	35	.	.	G	+	2	0	CPSF6	67942546	0.924000	0.31332	0.999000	0.59377	0.980000	0.70556	0.014000	0.13333	0.091000	0.17302	0.650000	0.86243	GGG	CPSF6	-	NULL	ENSG00000111605		0.488	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1		0	44	0	G	NM_007007		69656279	1			no_errors	ENST00000551516	ensembl	human	putative	74_37	missense	13.25	333	51	SNP	0.983	A	A	69656279	G	A	69656279	2	1	156	1	0	0	0	0	0	0	0	1	3836	1219	43	3		3	CPSF6	12	69656279	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	12541528	69656279	64195616	124	39784	138	2	1	43		4	3	43	N	T_G_C	3.486186e-08
CPSF6	11052	genome.wustl.edu	37	chr12	69656282	69656282	+	Silent	SNP	T	T	C																															gaacgagagaggcaccgggaTcgtgaccgagaccgtgaccg																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr12:69656282T>C	ENST00000435070.2	+	9	1709	c.1599T>C	c.(1597-1599)gaT>gaC	p.D533D	CPSF6_ENST00000266679.8_Silent_p.D570D|CPSF6_ENST00000551516.1_Missense_Mutation_p.I36T|CPSF6_ENST00000456847.3_Silent_p.D460D	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	533	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)			GGCACCGGGATcgtgaccgag	0.493																																																	0													203	146	165					12																	69656282		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1599T>C	12.37:g.69656282T>C			A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	NULL	p.I36T	ENST00000435070.2	37	c.107	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	T	10.94	1.491734	0.26774	.	.	ENSG00000111605	ENST00000551516	.	.	.	5.74	-0.151	0.13411	.	.	.	.	.	T	0.35653	0.0939	.	.	.	0.23210	N	0.998116	.	.	.	.	.	.	T	0.33163	-0.9879	4	.	.	.	-13.4528	10.6393	0.45584	0.0:0.3465:0.0:0.6535	.	.	.	.	T	36	.	.	I	+	2	0	CPSF6	67942549	0.997000	0.39634	0.993000	0.49108	0.976000	0.68499	0.346000	0.19997	0.018000	0.15052	0.528000	0.53228	ATC	CPSF6	-	NULL	ENSG00000111605		0.493	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	-	0	45	0	T	NM_007007		69656282	1	tier1	-	no_errors	ENST00000551516	ensembl	human	putative	74_37	missense	15.28	326	59	SNP	0.987	C	C	69656282	T	C	69656282	2	2	156	1	0	0	0	0	0	0	0	1	3836	1432	50	4		4	CPSF6	12	69656282	Silent	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	3	69656282	64195613	125	39785	138	2	1	43		4	3	43	N	T_G_C	3.486186e-08
CPSF6	11052	genome.wustl.edu	37	chr12	69656306	69656306	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	gaccgagaccgtgaccgagaGcgtgaccgagagcgcgaata	12	3	15	11	7	0	5	0	2	0	3	0	10	0	5	4	0	2	0	4	0	2	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr12:69656306G>C	ENST00000435070.2	+	9	1733	c.1623G>C	c.(1621-1623)gaG>gaC	p.E541D	CPSF6_ENST00000266679.8_Missense_Mutation_p.E578D|CPSF6_ENST00000551516.1_Missense_Mutation_p.S44T|CPSF6_ENST00000456847.3_Missense_Mutation_p.E468D	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	541	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)			gtgaccgagagcgtgaccgag	0.483																																																	0													215	149	171					12																	69656306		2203	4300	6503	SO:0001583	missense	0			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.1623G>C	12.37:g.69656306G>C	ENSP00000391774:p.Glu541Asp		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E578D	ENST00000435070.2	37	c.1734	CCDS8988.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.115|8.115	0.779585|0.779585	0.16120|0.16120	.|.	.|.	ENSG00000111605|ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679|ENST00000551516	T;T;T|.	0.30981|.	1.51;1.51;1.51|.	5.74|5.74	-6.76|-6.76	0.01732|0.01732	.|.	0.043653|.	0.85682|.	D|.	0.000000|.	T|T	0.20941|0.20941	0.0504|0.0504	N|N	0.10809|0.10809	0.05|0.05	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.0;0.004;0.001|.	B;B;B|.	0.11329|.	0.0;0.006;0.002|.	T|T	0.32348|0.32348	-0.9910|-0.9910	9|5	.|.	.|.	.|.	-11.2038|-11.2038	11.9982|11.9982	0.53216|0.53216	0.6417:0.0:0.273:0.0853|0.6417:0.0:0.273:0.0853	.|.	290;578;541|.	B4DSU9;Q16630-2;Q16630|.	.;.;CPSF6_HUMAN|.	D|T	541;468;578|44	ENSP00000391774:E541D;ENSP00000391437:E468D;ENSP00000266679:E578D|.	.|.	E|S	+|+	3|2	2|0	CPSF6|CPSF6	67942573|67942573	0.700000|0.700000	0.27796|0.27796	0.311000|0.311000	0.25182|0.25182	0.936000|0.936000	0.57629|0.57629	-0.158000|-0.158000	0.10070|0.10070	-1.264000|-1.264000	0.02452|0.02452	-1.608000|-1.608000	0.00805|0.00805	GAG|AGC	CPSF6	-	NULL	ENSG00000111605		0.483	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	-	0	43	0	G	NM_007007		69656306	1	tier1	-	no_errors	ENST00000266679	ensembl	human	known	74_37	missense	38.46	216	135	SNP	0.033	C	C	69656306	G	C	69656306	3	2	156	1	0	0	0	0	1	0	0	0	3836	962	34	5	1657	5	CPSF6	12	69656306	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	24	69656306	64195589	126	39786			1	43		4	3	43	N	T_G_C	3.486186e-08
CPSF6	11052	genome.wustl.edu	37	chr12	69656321	69656321	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cgagagcgtgaccgagagcgCgaatatcgtcatcgttagaa	12	7	13	9	7	1	4	1	1	0	3	3	7	1	4	1	0	2	1	1	0	4	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr12:69656321C>T	ENST00000435070.2	+	9	1748	c.1638C>T	c.(1636-1638)cgC>cgT	p.R546R	CPSF6_ENST00000266679.8_Silent_p.R583R|CPSF6_ENST00000551516.1_Missense_Mutation_p.A49V|CPSF6_ENST00000456847.3_Silent_p.R473R	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	546	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)			accgagagcgCGAATATCGTC	0.473																																																	0													205	140	162					12																	69656321		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1638C>T	12.37:g.69656321C>T			A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	NULL	p.A49V	ENST00000435070.2	37	c.146	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846804	0.32606	.	.	ENSG00000111605	ENST00000551516	.	.	.	5.75	1.12	0.20585	.	.	.	.	.	T	0.35158	0.0922	.	.	.	0.24121	N	0.995807	.	.	.	.	.	.	T	0.26121	-1.0112	4	.	.	.	-5.3309	9.4649	0.38806	0.5679:0.2684:0.1636:0.0	.	.	.	.	V	49	.	.	A	+	2	0	CPSF6	67942588	0.959000	0.32827	1.000000	0.80357	0.991000	0.79684	0.141000	0.16076	0.283000	0.22279	-0.274000	0.10170	GCG	CPSF6	-	NULL	ENSG00000111605		0.473	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1		0	37	0	C	NM_007007		69656321	1			no_errors	ENST00000551516	ensembl	human	putative	74_37	missense	20.25	252	64	SNP	0.995	T	T	69656321	C	T	69656321	2	4	156	1	0	0	0	0	0	0	0	1	3836	755	27	1		1	CPSF6	12	69656321	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	15	69656321	64195574	127	39787			1	43		4	3	43	N	T_G_C	3.486186e-08
ZDHHC17	23390	genome.wustl.edu	37	chr12	77243230	77243230	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttaaagtcacaacaacGtctattgaaagcccattcaa	16	10	4	11	1	3	1	2	1	1	0	3	1	3	1	1	0	3	0	1	0	7	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr12:77243230G>A	ENST00000426126.2	+	16	2389	c.1740G>A	c.(1738-1740)acG>acA	p.T580T	ZDHHC17_ENST00000334822.5_Silent_p.T580T	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	580					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						TCACAACAACGTCTATTGAAA	0.294																																																	0													55	53	54					12																	77243230		1808	4057	5865	SO:0001819	synonymous_variant	0			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.1740G>A	12.37:g.77243230G>A			B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase,prints_Ankyrin_rpt	p.T580	ENST00000426126.2	37	c.1740	CCDS44946.1	12																																																																																			ZDHHC17	-	NULL	ENSG00000186908		0.294	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC17	HGNC	protein_coding	OTTHUMT00000406555.1	-	0	217	0	G	NM_015336		77243230	1	tier1	-	no_errors	ENST00000334822	ensembl	human	known	74_37	silent	19.05	170	40	SNP	1.000	A	A	77243230	G	A	77243230	2	1	156	1	0	0	0	0	0	0	0	1	17655	1132	40	1		1	ZDHHC17	12	77243230	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	7586909	77243230	56608665	128	39788											
CSRP2	1466	genome.wustl.edu	37	chr12	77259983	77259983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcacactgcacctcttctgCgtggtacacggtcctcccac	7	10	7	17	2	3	0	1	0	2	0	5	0	5	0	3	2	3	2	3	2	1	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr12:77259983C>T	ENST00000311083.5	-	2	181	c.58G>A	c.(58-60)Gca>Aca	p.A20T	CSRP2_ENST00000547435.1_Missense_Mutation_p.A20T|CSRP2_ENST00000546966.1_Missense_Mutation_p.A20T|CSRP2_ENST00000552330.1_Missense_Mutation_p.A20T	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	20	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						ACCTCTTCTGCGTGGTACACG	0.522																																																	0													122	90	100					12																	77259983		2203	4300	6503	SO:0001583	missense	0			BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.58G>A	12.37:g.77259983C>T	ENSP00000310901:p.Ala20Thr		Q93030	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A20T	ENST00000311083.5	37	c.58	CCDS9015.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.724913	0.96847	.	.	ENSG00000175183	ENST00000311083;ENST00000552330;ENST00000546966;ENST00000547435	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.12	5.12	0.69794	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	M	0.67700	2.07	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.95146	0.8268	10	0.51188	T	0.08	.	18.9377	0.92592	0.0:1.0:0.0:0.0	.	20	Q16527	CSRP2_HUMAN	T	20	ENSP00000310901:A20T;ENSP00000449824:A20T;ENSP00000450056:A20T;ENSP00000450143:A20T	ENSP00000310901:A20T	A	-	1	0	CSRP2	75784114	1.000000	0.71417	0.945000	0.38365	0.949000	0.60115	7.709000	0.84645	2.546000	0.85860	0.650000	0.86243	GCA	CSRP2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000175183		0.522	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRP2	HGNC	protein_coding	OTTHUMT00000406572.1		0	20	0	C	NM_001321		77259983	-1			no_errors	ENST00000311083	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	77259983	C	T	77259983	3	4	156	1	0	0	0	0	1	0	0	0	3976	768	27	1	543	1	CSRP2	12	77259983	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	16753	77259983	56591912	129	39789											
MYF6	4618	genome.wustl.edu	37	chr12	81101624	81101624	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggagtgatggtaccttgtcCccctgccaggaccaaatgcc	8	8	12	13	0	0	1	0	1	0	0	1	3	1	3	6	3	3	1	6	3	2	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr12:81101624C>A	ENST00000228641.3	+	1	348	c.126C>A	c.(124-126)tcC>tcA	p.S42S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	42					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						GTACCTTGTCCCCCTGCCAGG	0.602																																																	0													73	76	75					12																	81101624		2203	4300	6503	SO:0001819	synonymous_variant	0				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.126C>A	12.37:g.81101624C>A			B2R898|Q53X80|Q6FHI9	Silent	SNP	pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.S42	ENST00000228641.3	37	c.126	CCDS9019.1	12																																																																																			MYF6	-	pfam_Basic,smart_Basic	ENSG00000111046		0.602	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1	-	0	53	0	C	NM_002469		81101624	1	tier1	-	no_errors	ENST00000228641	ensembl	human	known	74_37	silent	18.92	29	7	SNP	1.000	A	A	81101624	C	A	81101624	2	1	156	1	0	0	0	0	0	0	0	1	10066	610	22	3		3	MYF6	12	81101624	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	3841641	81101624	52750271	130	39790											
ANKS1B	56899	genome.wustl.edu	37	chr12	99201655	99201655	+	Intron	SNP	T	T	C	0	1	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	tggatcgctgagaaaggaaaTcctgcgttctgattcgtcca	10	11	11	9	3	1	2	0	2	1	1	5	5	3	4	2	2	1	2	2	2	2	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr12:99201655T>C	ENST00000547776.2	-	20	3066				ANKS1B_ENST00000341752.7_Intron|ANKS1B_ENST00000550693.2_Silent_p.G201G|ANKS1B_ENST00000332712.7_Silent_p.G201G|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000333732.7_Silent_p.G41G|ANKS1B_ENST00000549493.2_Silent_p.G261G|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000549025.2_Silent_p.G109G|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546960.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							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)		AGAAAGGAAATCCTGCGTTCT	0.393																																																	0													135	124	128					12																	99201655		1906	4121	6027	SO:0001627	intron_variant	0			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.3067-6752A>G	12.37:g.99201655T>C			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_SAM/pointed,smart_SAM,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SAM	p.G261	ENST00000547776.2	37	c.783	CCDS55872.1	12																																																																																			ANKS1B	-	NULL	ENSG00000185046		0.393	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	-	0	74	0	T	NM_020140		99201655	-1	tier1	-	no_errors	ENST00000549493	ensembl	human	known	74_37	silent	18.18	53	12	SNP	1.000	C	C	99201655	T	C	99201655	1	2	156	0	1	0	0	0	0	0	0	0	689	1422	50	4		4	ANKS1B	12	99201655	Intron	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	18100031	99201655	34650240	131	39791											
MED13L	23389	genome.wustl.edu	37	chr12	116422129	116422129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccacgcgcatgatccCgtcacgtagcactttgcaga	8	11	8	14	4	1	2	1	1	0	1	3	2	3	2	2	0	2	4	2	0	1	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr12:116422129C>A	ENST00000281928.3	-	20	4593	c.4387G>T	c.(4387-4389)Ggg>Tgg	p.G1463W		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1463						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)		CGCATGATCCCGTCACGTAGC	0.483																																																	0													137	95	110					12																	116422129		2203	4300	6503	SO:0001583	missense	0			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.4387G>T	12.37:g.116422129C>A	ENSP00000281928:p.Gly1463Trp		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.G1463W	ENST00000281928.3	37	c.4387	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325919	0.60743	.	.	ENSG00000123066	ENST00000281928	T	0.72615	-0.67	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89341	0.3654	10	0.87932	D	0	.	19.2439	0.93895	0.0:1.0:0.0:0.0	.	1463	Q71F56	MD13L_HUMAN	W	1463	ENSP00000281928:G1463W	ENSP00000281928:G1463W	G	-	1	0	MED13L	114906512	1.000000	0.71417	0.942000	0.38095	0.956000	0.61745	7.484000	0.81180	2.538000	0.85594	0.655000	0.94253	GGG	MED13L	-	NULL	ENSG00000123066		0.483	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3		0	30	0	C			116422129	-1			no_errors	ENST00000281928	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.998	A	A	116422129	C	A	116422129	3	1	156	1	0	0	0	0	1	0	0	0	9469	652	23	2	2293	2	MED13L	12	116422129	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	17220474	116422129	17429766	132	39792											
DCT	1638	genome.wustl.edu	37	chr13	95131328	95131328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcggctcgcacctctgtgCactgcccccggccttgctga	3	10	11	17	3	1	1	0	1	1	0	3	1	1	1	4	2	3	4	4	2	0	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr13:95131328C>T	ENST00000377028.5	-	1	595	c.182G>A	c.(181-183)tGc>tAc	p.C61Y	DCT_ENST00000446125.1_Missense_Mutation_p.C61Y	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	61					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)		CACCTCTGTGCACTGCCCCCG	0.607																																																	0													71	62	65					13																	95131328		2203	4300	6503	SO:0001583	missense	0			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.182G>A	13.37:g.95131328C>T	ENSP00000366227:p.Cys61Tyr		Q09GT4	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.C61Y	ENST00000377028.5	37	c.182	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117179	0.77323	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.84516	-1.86;-1.86	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.94810	0.8324	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96128	0.9090	10	0.87932	D	0	-19.2918	18.78	0.91928	0.0:1.0:0.0:0.0	.	61;61	Q09GT4;P40126	.;TYRP2_HUMAN	Y	61	ENSP00000366227:C61Y;ENSP00000392762:C61Y	ENSP00000366227:C61Y	C	-	2	0	DCT	93929329	1.000000	0.71417	0.974000	0.42286	0.663000	0.39108	7.298000	0.78815	2.425000	0.82216	0.650000	0.86243	TGC	DCT	-	NULL	ENSG00000080166		0.607	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	-	0	34	0	C			95131328	-1	tier1	-	no_errors	ENST00000446125	ensembl	human	known	74_37	missense	26.00	37	13	SNP	0.999	T	T	95131328	C	T	95131328	3	4	156	1	0	0	0	0	1	0	0	0	4313	710	25	3	1516	3	DCT	13	95131328	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09		95131328	20038550	133	39793											
FANCM	57697	genome.wustl.edu	37	chr14	45606438	45606438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctcggaaactatgcttaTtgccaggtaataattttgtt	10	16	8	7	1	1	0	0	0	1	0	2	1	1	1	1	2	3	4	1	2	5	8			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr14:45606438T>C	ENST00000267430.5	+	2	760	c.675T>C	c.(673-675)taT>taC	p.Y225Y	FKBP3_ENST00000396062.3_5'Flank|FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000556036.1_Silent_p.Y225Y|FANCM_ENST00000542564.2_Silent_p.Y225Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	225	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						ACTATGCTTATTGCCAGGTAA	0.348								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													59	57	58					14																	45606438		2203	4300	6503	SO:0001819	synonymous_variant	0	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.675T>C	14.37:g.45606438T>C			B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y225	ENST00000267430.5	37	c.675	CCDS32070.1	14																																																																																			FANCM	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000187790		0.348	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0	62	0	T	XM_048128		45606438	1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	silent	74.58	15	44	SNP	1.000	C	C	45606438	T	C	45606438	2	2	156	1	0	0	0	0	0	0	0	1	5693	1500	52	4		4	FANCM	14	45606438	Silent	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09		45606438	61743102	134	39794											
FBXO34	55030	genome.wustl.edu	37	chr14	55818691	55818691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaaaaaagtgggtctgCtgagccatttgtactgccag	11	10	13	7	0	1	2	0	2	1	0	1	3	1	3	2	2	4	2	2	2	4	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr14:55818691C>T	ENST00000313833.4	+	2	1828	c.1583C>T	c.(1582-1584)gCt>gTt	p.A528V	FBXO34_ENST00000440021.1_Missense_Mutation_p.A528V	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	528										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGTGGGTCTGCTGAGCCATTT	0.507																																																	0													128	125	126					14																	55818691		2203	4300	6503	SO:0001583	missense	0			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1583C>T	14.37:g.55818691C>T	ENSP00000313159:p.Ala528Val		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom,pfscan_F-box_dom	p.A528V	ENST00000313833.4	37	c.1583	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.446670	0.01089	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.16743	2.32;2.32	5.23	-0.545	0.11843	.	0.829943	0.10255	N	0.696735	T	0.07007	0.0178	N	0.03115	-0.41	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.42032	-0.9475	10	0.15066	T	0.55	-5.0122	11.2729	0.49150	0.0:0.6326:0.0:0.3673	.	528	Q9NWN3	FBX34_HUMAN	V	528	ENSP00000313159:A528V;ENSP00000394117:A528V	ENSP00000313159:A528V	A	+	2	0	FBXO34	54888444	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.038000	0.12144	0.007000	0.14760	0.655000	0.94253	GCT	FBXO34	-	NULL	ENSG00000178974		0.507	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	-	0	58	0	C			55818691	1	tier1	-	no_errors	ENST00000313833	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.000	T	T	55818691	C	T	55818691	3	4	156	1	0	0	0	0	1	0	0	0	5766	797	28	3	1585	3	FBXO34	14	55818691	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	10212253	55818691	51530849	135	39795											
SIX6	4990	genome.wustl.edu	37	chr14	60976248	60976248	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgtggcccctgcggcctgCgaggccctcaacaagaatga	8	5	12	16	3	1	2	1	1	0	1	1	3	1	2	5	3	3	0	5	3	3	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr14:60976248C>T	ENST00000327720.5	+	1	580	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	44					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.C44C(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CTGCGGCCTGCGAGGCCCTCA	0.632																																																	1	Substitution - coding silent(1)	endometrium(1)											39	43	41					14																	60976248		2203	4300	6503	SO:0001819	synonymous_variant	0			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"Homeoboxes / SINE class"	10892	protein-coding gene	gene with protein product		606326	"sine oculis homeobox (Drosophila) homolog 6", "sine oculis homeobox homolog 6 (Drosophila)"	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.132C>T	14.37:g.60976248C>T			Q6NT42|Q9P1X8	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.C44	ENST00000327720.5	37	c.132	CCDS9747.1	14																																																																																			SIX6	-	NULL	ENSG00000184302		0.632	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX6	HGNC	protein_coding	OTTHUMT00000276952.2	-	0	40	0	C			60976248	1	tier1	-	no_errors	ENST00000327720	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T	T	60976248	C	T	60976248	2	4	156	1	0	0	0	0	0	0	0	1	14396	776	27	1		1	SIX6	14	60976248	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	5157557	60976248	46373292	136	39796											
VSX2	338917	genome.wustl.edu	37	chr14	74726335	74726335	+	Missense_Mutation	SNP	A	A	G	1	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	agaaccgtcgagccaagtggAggaagcgggagaagtgctgg	12	4	18	7	3	0	2	0	0	0	2	1	6	0	4	2	4	4	1	2	4	4	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr14:74726335A>G	ENST00000261980.2	+	4	700	c.610A>G	c.(610-612)Agg>Ggg	p.R204G		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	204					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		AGCCAAGTGGAGGAAGCGGGA	0.632																																																	0													114	96	102					14																	74726335		2203	4300	6503	SO:0001583	missense	0			AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"Homeoboxes / PRD class"	1975	protein-coding gene	gene with protein product		142993	"C elegans ceh-10 homeo domain-containing homolog", "ceh-10 homeo domain containing homolog (C. elegans)", "ceh-10 homeodomain containing homolog (C. elegans)"	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.610A>G	14.37:g.74726335A>G	ENSP00000261980:p.Arg204Gly		A1A4X6	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.R204G	ENST00000261980.2	37	c.610	CCDS9827.1	14	.	.	.	.	.	.	.	.	.	.	A	19.65	3.866456	0.72065	.	.	ENSG00000119614	ENST00000261980	D	0.97642	-4.47	5.04	3.87	0.44632	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99233	0.9733	H	0.99903	4.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97786	1.0235	10	0.87932	D	0	.	11.6323	0.51183	0.6468:0.3532:0.0:0.0	.	204	P58304	VSX2_HUMAN	G	204	ENSP00000261980:R204G	ENSP00000261980:R204G	R	+	1	2	VSX2	73796088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.484000	0.45242	0.915000	0.36847	0.533000	0.62120	AGG	VSX2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000119614		0.632	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX2	HGNC	protein_coding	OTTHUMT00000412323.1	-	0	67	0	A	NM_182894		74726335	1	tier1	-	no_errors	ENST00000261980	ensembl	human	known	74_37	missense	18.97	47	11	SNP	1.000	G	G	74726335	A	G	74726335	3	3	156	1	0	0	0	0	1	0	0	0	17281	295	11	4	624	4	VSX2	14	74726335	Missense_Mutation	SNP	A	TCGA-V5-A7RC-01B-11D-A403-09	13750087	74726335	32623205	137	39797											
CDC42BPB	9578	genome.wustl.edu	37	chr14	103450049	103450049	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgcctgcaggatctcCggcgagatgtagtcaggtgt	7	10	13	11	3	2	1	1	0	1	1	5	3	3	2	3	3	1	2	3	3	1	1	rs373702358		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr14:103450049C>T	ENST00000361246.2	-	7	1023	c.735G>A	c.(733-735)ccG>ccA	p.P245P		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)		GCAGGATCTCCGGCGAGATGT	0.557													C|||	1	0.000199681	0	0	5008	,	,		18311	0		0	False		,,,				2504	0.001																0								C		1,4405	2.1+/-5.4	0,1,2202	75	70	71		735	-10.1	0.1	14		71	0,8600		0,0,4300	no	coding-synonymous	CDC42BPB	NM_006035.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		245/1712	103450049	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.735G>A	14.37:g.103450049C>T				Silent	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.P245	ENST00000361246.2	37	c.735	CCDS9978.1	14																																																																																			CDC42BPB	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000198752		0.557	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1		0	13	0	C	NM_006035		103450049	-1			no_errors	ENST00000361246	ensembl	human	known	74_37	silent	30.00	7	3	SNP	0.128	T	T	103450049	C	T	103450049	2	4	156	1	0	0	0	0	0	0	0	1	3080	639	23	1		1	CDC42BPB	14	103450049	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	28723714	103450049	3899491	138	39798											
HERC2	8924	genome.wustl.edu	37	chr15	28357144	28357144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaacaggtgtaggactcaGggaggaagtggtctggaggg	12	6	19	4	0	2	1	1	0	1	1	2	5	2	5	0	7	1	1	0	7	3	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr15:28357144G>T	ENST00000261609.7	-	93	14378	c.14270C>A	c.(14269-14271)cCt>cAt	p.P4757H		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)		GTAGGACTCAGGGAGGAAGTG	0.483																																																	0													93	78	83					15																	28357144		2203	4300	6503	SO:0001583	missense	0			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.14270C>A	15.37:g.28357144G>T	ENSP00000261609:p.Pro4757His			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.P4757H	ENST00000261609.7	37	c.14270	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560508	0.86335	.	.	ENSG00000128731	ENST00000261609	D	0.84146	-1.81	5.99	5.99	0.97316	HECT (4);	0.000000	0.85682	D	0.000000	D	0.96216	0.8766	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97240	0.9890	10	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	4757;446	O95714;Q8ND39	HERC2_HUMAN;.	H	4757	ENSP00000261609:P4757H	ENSP00000261609:P4757H	P	-	2	0	HERC2	26030739	1.000000	0.71417	0.772000	0.31596	0.609000	0.37215	9.833000	0.99426	2.840000	0.97914	0.655000	0.94253	CCT	HERC2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000128731		0.483	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	85	0	G	NM_004667		28357144	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	T	T	28357144	G	T	28357144	3	4	156	1	0	0	0	0	1	0	0	0	7085	1000	35	3	238	3	HERC2	15	28357144	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09		28357144	74174248	139	39799											
MYO5C	55930	genome.wustl.edu	37	chr15	52539674	52539674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgctcccaactgtggtcCggaaatgcttgctgtttggc	5	13	11	12	1	0	0	0	0	0	0	2	1	2	1	3	3	4	4	3	3	2	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr15:52539674C>T	ENST00000261839.7	-	15	2023	c.1862G>A	c.(1861-1863)cGg>cAg	p.R621Q	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	621	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)		AACTGTGGTCCGGAAATGCTT	0.493																																																	0													146	138	141					15																	52539674		1936	4139	6075	SO:0001583	missense	0			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.1862G>A	15.37:g.52539674C>T	ENSP00000261839:p.Arg621Gln		Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R621Q	ENST00000261839.7	37	c.1862	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534420	0.85812	.	.	ENSG00000128833	ENST00000261839	T	0.18810	2.19	5.55	5.55	0.83447	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.42686	1.345	0.80722	D	1	P	0.47302	0.893	P	0.46253	0.509	T	0.00403	-1.1761	10	0.35671	T	0.21	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	621	Q9NQX4	MYO5C_HUMAN	Q	621	ENSP00000261839:R621Q	ENSP00000261839:R621Q	R	-	2	0	MYO5C	50326966	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.968000	0.63728	2.768000	0.95171	0.655000	0.94253	CGG	MYO5C	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000128833		0.493	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1		0	42	0	C	NM_018728		52539674	-1			no_errors	ENST00000261839	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	52539674	C	T	52539674	3	4	156	1	0	0	0	0	1	0	0	0	10118	652	23	1	3474	1	MYO5C	15	52539674	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	24182530	52539674	49991718	140	39800											
CLK3	1198	genome.wustl.edu	37	chr15	74922200	74922200	+	Silent	SNP	C	C	T	0	0	0	1	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	cctgaggagcggtccttccaCaccagccgcaacccaagcag	10	4	10	17	2	0	1	0	1	0	0	2	2	2	2	6	2	4	2	6	2	2	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr15:74922200C>T	ENST00000395066.3	+	13	2354	c.1893C>T	c.(1891-1893)caC>caT	p.H631H	CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Silent_p.H483H|CLK3_ENST00000352989.5_Silent_p.H460H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	631					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GGTCCTTCCACACCAGCCGCA	0.657																																					Ovarian(133;694 1754 28950 29027 31859)												0													22	19	20					15																	74922200		2195	4291	6486	SO:0001819	synonymous_variant	0			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1893C>T	15.37:g.74922200C>T			D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H631	ENST00000395066.3	37	c.1893	CCDS45304.1	15																																																																																			CLK3	-	NULL	ENSG00000179335		0.657	CLK3-003	KNOWN	basic|CCDS	protein_coding	CLK3	HGNC	protein_coding	OTTHUMT00000390442.3	-	0	34	0	C			74922200	1	tier1	-	no_errors	ENST00000395066	ensembl	human	known	74_37	silent	38.24	21	13	SNP	0.825	T	T	74922200	C	T	74922200	2	4	156	1	0	0	0	0	0	0	0	1	3545	477	17	3		3	CLK3	15	74922200	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	22382526	74922200	27609192	141	39801											
ALPK3	57538	genome.wustl.edu	37	chr15	85406844	85406844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcgcagcagaagcccgggCcgcgcctggctttggggagg	5	6	17	13	4	0	1	0	0	0	1	1	2	0	2	3	5	2	3	3	5	1	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr15:85406844C>T	ENST00000258888.5	+	11	5245	c.5078C>T	c.(5077-5079)gCc>gTc	p.A1693V		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1693	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				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)			GAAGCCCGGGCCGCGCCTGGC	0.547																																																	0													57	49	52					15																	85406844		2203	4299	6502	SO:0001583	missense	0			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.5078C>T	15.37:g.85406844C>T	ENSP00000258888:p.Ala1693Val		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.A1693V	ENST00000258888.5	37	c.5078	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079302	0.36662	.	.	ENSG00000136383	ENST00000258888	T	0.13196	2.61	5.8	5.8	0.92144	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.067050	0.64402	D	0.000011	T	0.10165	0.0249	N	0.20530	0.585	0.35018	D	0.757576	P	0.39443	0.674	B	0.37047	0.24	T	0.27640	-1.0068	10	0.14656	T	0.56	-16.2706	17.5569	0.87894	0.0:1.0:0.0:0.0	.	1693	Q96L96	ALPK3_HUMAN	V	1693	ENSP00000258888:A1693V	ENSP00000258888:A1693V	A	+	2	0	ALPK3	83207848	0.986000	0.35501	0.958000	0.39756	0.009000	0.06853	2.555000	0.45854	2.735000	0.93741	0.655000	0.94253	GCC	ALPK3	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000136383		0.547	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0	36	0	C	NM_020778		85406844	1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.979	T	T	85406844	C	T	85406844	3	4	156	1	0	0	0	0	1	0	0	0	546	739	26	3	5120	3	ALPK3	15	85406844	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	10484644	85406844	17124548	142	39802											
RHBDF1	64285	genome.wustl.edu	37	chr16	109811	109811	+	Frame_Shift_Del	DEL	T	T	-																															tggtgtggttcccagcgctgTttttggtgcagatctgggtc																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr16:109811delT	ENST00000262316.6	-	14	1878	c.1736delA	c.(1735-1737)aacfs	p.N579fs		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	579					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CCCAGCGCTGTTTTTGGTGCA	0.597																																																	0													167	126	140					16																	109811		2203	4300	6503	SO:0001589	frameshift_variant	0			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1736delA	16.37:g.109811delT	ENSP00000262316:p.Asn579fs		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Frame_Shift_Del	DEL	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.N579fs	ENST00000262316.6	37	c.1736	CCDS32344.1	16																																																																																			RHBDF1	-	NULL	ENSG00000007384		0.597	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDF1	HGNC	protein_coding	OTTHUMT00000134178.2		0	39	0	T	NM_022450		109811	-1	tier1		no_errors	ENST00000262316	ensembl	human	known	74_37	frame_shift_del	9.68	28	3	DEL	0.997	-	-	109811	T	-	109811	7	5	156	1	0	1	0	1	0	0	0	0	13364	1725	60	0	851	0	RHBDF1	16	109811	Frame_Shift_Del	DEL	T	TCGA-V5-A7RC-01B-11D-A403-09		109811	90244942	143	39803											
NARFL	64428	genome.wustl.edu	37	chr16	781655	781655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctccaggtagccccccgagCcccctccccgatggctggtg	4	6	12	19	2	0	0	0	0	0	0	2	2	2	0	8	3	2	3	8	3	1	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr16:781655C>T	ENST00000251588.2	-	9	960	c.944G>A	c.(943-945)gGc>gAc	p.G315D	NARFL_ENST00000540986.1_Missense_Mutation_p.G213D|NARFL_ENST00000301694.5_3'UTR|NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000568545.1_Missense_Mutation_p.G213D	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	315					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GCCCCCCGAGCCCCCTCCCCG	0.667																																																	0													21	20	20					16																	781655		2159	4246	6405	SO:0001583	missense	0			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 1"	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.944G>A	16.37:g.781655C>T	ENSP00000251588:p.Gly315Asp		A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.G315D	ENST00000251588.2	37	c.944	CCDS10425.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.220800	0.95139	.	.	ENSG00000103245	ENST00000251588;ENST00000540986	T;T	0.43294	0.95;0.95	5.31	5.31	0.75309	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.047033	0.85682	D	0.000000	T	0.70868	0.3273	M	0.90542	3.125	0.80722	D	1	D	0.60575	0.988	D	0.67548	0.952	T	0.77555	-0.2544	10	0.66056	D	0.02	-7.6494	17.9537	0.89062	0.0:1.0:0.0:0.0	.	315	Q9H6Q4	NARFL_HUMAN	D	315;213	ENSP00000251588:G315D;ENSP00000444008:G213D	ENSP00000251588:G315D	G	-	2	0	NARFL	721656	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.365000	0.66116	2.474000	0.83562	0.511000	0.50034	GGC	NARFL	-	pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase	ENSG00000103245		0.667	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1		0	23	0	C	NM_022493		781655	-1			no_errors	ENST00000251588	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	781655	C	T	781655	3	4	156	1	0	0	0	0	1	0	0	0	10206	739	26	3	498	3	NARFL	16	781655	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	671844	781655	89573098	144	39804											
CLDN6	9074	genome.wustl.edu	37	chr16	3065855	3065855	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcatctggccggtgctctgCaccacgcaggacatccacag	8	7	11	15	2	2	0	0	0	2	0	3	1	3	1	3	3	3	4	3	3	0	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr16:3065855C>A	ENST00000396925.1	-	3	596	c.168G>T	c.(166-168)gtG>gtT	p.V56V	TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.V56V			P56747	CLD6_HUMAN	claudin 6	56					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						CGGTGCTCTGCACCACGCAGG	0.637																																																	0													151	115	127					16																	3065855		2198	4300	6498	SO:0001819	synonymous_variant	0			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.168G>T	16.37:g.3065855C>A			B3KQP9|D3DUA5	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6	p.V56	ENST00000396925.1	37	c.168	CCDS10488.1	16																																																																																			CLDN6	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000184697		0.637	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN6	HGNC	protein_coding	OTTHUMT00000250988.1	-	0	44	0	C	NM_021195		3065855	-1	tier1	-	no_errors	ENST00000328796	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	A	A	3065855	C	A	3065855	2	1	156	1	0	0	0	0	0	0	0	1	3496	697	25	3		3	CLDN6	16	3065855	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	2284200	3065855	87288898	145	39805											
RBBP6	5930	genome.wustl.edu	37	chr16	24581686	24581686	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attggaagtacagaaaatatAtcaaacacaaaagaaccctc	21	7	5	8	0	1	2	1	0	0	2	2	3	1	3	1	1	3	1	1	1	10	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr16:24581686A>G	ENST00000319715.4	+	17	4107	c.3675A>G	c.(3673-3675)atA>atG	p.I1225M	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.I1191M	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1225					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)		CAGAAAATATATCAAACACAA	0.363																																																	0													53	56	55					16																	24581686		2197	4299	6496	SO:0001583	missense	0				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.3675A>G	16.37:g.24581686A>G	ENSP00000317872:p.Ile1225Met		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.I1225M	ENST00000319715.4	37	c.3675	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565557	0.27915	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.14516	2.5;2.5	5.97	0.835	0.18886	.	1.315560	0.04821	N	0.436989	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B;B	0.19445	0.036;0.021	B;B	0.20955	0.032;0.014	T	0.35847	-0.9772	10	0.48119	T	0.1	0.5473	1.9848	0.03434	0.2489:0.4195:0.1949:0.1367	.	1191;1225	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	M	1225;1191	ENSP00000317872:I1225M;ENSP00000316291:I1191M	ENSP00000317872:I1225M	I	+	3	3	RBBP6	24489187	0.000000	0.05858	0.045000	0.18777	0.839000	0.47603	0.051000	0.14141	0.490000	0.27771	-0.316000	0.08728	ATA	RBBP6	-	NULL	ENSG00000122257		0.363	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	-	0	58	0	A	NM_006910		24581686	1	tier1	-	no_errors	ENST00000319715	ensembl	human	known	74_37	missense	19.15	38	9	SNP	0.002	G	G	24581686	A	G	24581686	3	3	156	1	0	0	0	0	1	0	0	0	13148	439	16	4	3795	4	RBBP6	16	24581686	Missense_Mutation	SNP	A	TCGA-V5-A7RC-01B-11D-A403-09	21515831	24581686	65773067	146	39806											
RBBP6	5930	genome.wustl.edu	37	chr16	24583012	24583012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcaagagacagaaaacCtcatgatcacaaagccactt	16	7	5	13	0	3	3	3	1	0	2	4	4	4	3	3	0	2	0	3	0	4	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr16:24583012C>A	ENST00000319715.4	+	18	5057	c.4625C>A	c.(4624-4626)cCt>cAt	p.P1542H	RBBP6_ENST00000381039.3_Missense_Mutation_p.P702H|RBBP6_ENST00000348022.2_Missense_Mutation_p.P1508H	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1542	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)		GACAGAAAACCTCATGATCAC	0.363																																																	0													52	48	50					16																	24583012		2197	4299	6496	SO:0001583	missense	0				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.4625C>A	16.37:g.24583012C>A	ENSP00000317872:p.Pro1542His		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.P1542H	ENST00000319715.4	37	c.4625	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323905	0.41096	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.22134	1.97;2.32;2.27	6.03	6.03	0.97812	.	0.231906	0.33772	N	0.004571	T	0.32194	0.0821	L	0.29908	0.895	0.41197	D	0.986348	D;D;D	0.65815	0.995;0.995;0.991	P;P;P	0.58873	0.847;0.847;0.707	T	0.01290	-1.1394	10	0.66056	D	0.02	-18.2983	16.8201	0.85743	0.1291:0.8709:0.0:0.0	.	702;1508;1542	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	H	702;1542;1508	ENSP00000370427:P702H;ENSP00000317872:P1542H;ENSP00000316291:P1508H	ENSP00000317872:P1542H	P	+	2	0	RBBP6	24490513	0.023000	0.18921	1.000000	0.80357	0.888000	0.51559	1.454000	0.35178	2.868000	0.98415	0.557000	0.71058	CCT	RBBP6	-	NULL	ENSG00000122257		0.363	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	-	0	85	0	C	NM_006910		24583012	1	tier1	-	no_errors	ENST00000319715	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	A	A	24583012	C	A	24583012	3	1	156	1	0	0	0	0	1	0	0	0	13148	681	24	3	4749	3	RBBP6	16	24583012	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	1326	24583012	65771741	147	39807											
ZNF688	146542	genome.wustl.edu	37	chr16	30581404	30581404	+	Missense_Mutation	SNP	T	T	C	0	1	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	cgcttccactgcgaacttccTcttgaagcgcatgccacact	8	10	7	16	3	1	1	0	1	1	0	3	2	3	1	3	0	4	2	3	0	2	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr16:30581404T>C	ENST00000223459.6	-	3	1768	c.664A>G	c.(664-666)Agg>Ggg	p.R222G	AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000395219.1_Missense_Mutation_p.R208G|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	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(3)|large_intestine(2)|lung(2)|ovary(1)	8						GCGAACTTCCTCTTGAAGCGC	0.716																																																	0													14	17	16					16																	30581404		2189	4284	6473	SO:0001583	missense	0			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.664A>G	16.37:g.30581404T>C	ENSP00000223459:p.Arg222Gly		A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R222G	ENST00000223459.6	37	c.664	CCDS10684.1	16	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459712	0.63401	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.19806	2.12;2.12	4.42	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35393	0.0930	L	0.53729	1.69	0.30151	N	0.803052	D;D	0.76494	0.999;0.991	D;D	0.83275	0.996;0.991	T	0.09818	-1.0657	9	0.27785	T	0.31	.	7.5329	0.27693	0.0:0.0:0.2191:0.7809	.	222;208	P0C7X2;A8MV39	ZN688_HUMAN;.	G	208;222	ENSP00000378645:R208G;ENSP00000223459:R222G	ENSP00000223459:R222G	R	-	1	2	ZNF688	30488905	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.424000	0.34848	1.974000	0.57490	0.383000	0.25322	AGG	ZNF688	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000229809		0.716	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF688	HGNC	protein_coding	OTTHUMT00000255544.2	-	0	35	0	T	NM_145271		30581404	-1	tier1	-	no_errors	ENST00000223459	ensembl	human	known	74_37	missense	18.37	40	9	SNP	1.000	C	C	30581404	T	C	30581404	3	2	156	1	0	0	0	0	1	0	0	0	18141	1550	54	4	170	4	ZNF688	16	30581404	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	5998392	30581404	59773349	148	39808											
FBRS	64319	genome.wustl.edu	37	chr16	30680881	30680881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagaccccaccgggagcccTtttgggggcaccacctccgc	7	5	11	18	2	0	1	0	0	0	1	1	2	1	2	7	3	1	1	7	3	1	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr16:30680881T>C	ENST00000287468.5	+	12	1561	c.1298T>C	c.(1297-1299)cTt>cCt	p.L433P	FBRS_ENST00000568722.1_Missense_Mutation_p.L345P|FBRS_ENST00000395073.2_Intron|FBRS_ENST00000356166.6_Missense_Mutation_p.L953P	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	433										ovary(1)	1			Colorectal(24;0.103)			CCGGGAGCCCTTTTGGGGGCA	0.716																																																	0													58	71	67					16																	30680881		1960	4131	6091	SO:0001583	missense	0			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"fibrosin 1"	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1298T>C	16.37:g.30680881T>C	ENSP00000287468:p.Leu433Pro		B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	prints_AUTS2	p.L953P	ENST00000287468.5	37	c.2858		16	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114425	0.37339	.	.	ENSG00000156860	ENST00000356166;ENST00000287468	T	0.36520	1.25	5.09	5.09	0.68999	.	0.097704	0.38111	N	0.001809	T	0.45518	0.1346	L	0.29908	0.895	0.58432	D	0.999998	D	0.71674	0.998	D	0.66351	0.943	T	0.36986	-0.9725	10	0.44086	T	0.13	-5.4678	13.9913	0.64369	0.0:0.0:0.0:1.0	.	433	Q9HAH7	FBRS_HUMAN	P	953;433	ENSP00000348489:L953P	ENSP00000287468:L433P	L	+	2	0	FBRS	30588382	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.334000	0.52097	2.146000	0.66826	0.459000	0.35465	CTT	FBRS	-	NULL	ENSG00000156860		0.716	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding			0	33	0	T	NM_022452		30680881	1			no_errors	ENST00000356166	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	C	C	30680881	T	C	30680881	3	2	156	1	0	0	0	0	1	0	0	0	5729	1609	56	4	1340	4	FBRS	16	30680881	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	99477	30680881	59673872	149	39809											
SETD1A	9739	genome.wustl.edu	37	chr16	30982838	30982840	+	Missense_Mutation	TNP	CTC	CTC	TGA																															tcctcctcgtcctcatcctcCtcgtcctcttcatcctctga																								rs150754116		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C|T|C	C|T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr16:30982838_30982840CTC>TGA	ENST00000262519.8	+	13	3842_3844	c.3156_3158CTC>TGA	c.(3154-3159)tcCTCg>tcTGAg	p.S1053E		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1053	Ser-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						cctcatcctcctcgtcctcttca	0.586																																																	0																																										SO:0001583	missense	0			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.3156_3158CTC>TGA	16.37:g.30982838CTC>TGA	ENSP00000262519:p.Ser1053Glu		A6NP62|Q6PIF3|Q8TAJ6	Silent|Missense_Mutation|Nonsense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.S1052|p.S1053A|p.S1053*	ENST00000262519.8	37	c.3156|c.3157|c.3158	CCDS32435.1	16																																																																																			SETD1A	-	NULL	ENSG00000099381		0.586	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	-	0	34|35|34	0	C|T|C	NM_014712		30982838|30982839|30982840	1	tier1	-	no_errors	ENST00000262519	ensembl	human	known	74_37	silent|missense|nonsense	16.22|16.22|16.67	31|31|30	6	SNP	0.009|0.727|0.750	T|G|A	TGA	30982840	CTC	TGA	30982838	3	4	156	1	0	0	0	0	1	0	0	0	14175	668	24	3	3202	3	SETD1A	16	30982838	Missense_Mutation	TNP	CTC	TCGA-V5-A7RC-01B-11D-A403-09	301957	30982838	59371915	150	39810											
FUK	197258	genome.wustl.edu	37	chr16	70502787	70502787	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctctgtggagactgcCgagcgcctcctagccaccca	6	10	9	16	2	2	1	0	0	2	1	4	3	3	1	5	1	3	0	5	1	1	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr16:70502787C>T	ENST00000288078.6	+	9	931	c.699C>T	c.(697-699)gcC>gcT	p.A233A	FUK_ENST00000571514.1_5'UTR|FUK_ENST00000378912.2_Silent_p.A265A	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	233						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGGAGACTGCCGAGCGCCTCC	0.652																																																	0													94	98	97					16																	70502787		1987	4155	6142	SO:0001819	synonymous_variant	0				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.699C>T	16.37:g.70502787C>T			Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.A265	ENST00000288078.6	37	c.795	CCDS10891.2	16																																																																																			FUK	-	pfam_Fucokinase	ENSG00000157353		0.652	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	-	0	76	0	C	NM_145059		70502787	1	tier1	-	no_errors	ENST00000378912	ensembl	human	known	74_37	silent	16.18	57	11	SNP	0.937	T	T	70502787	C	T	70502787	2	4	156	1	0	0	0	0	0	0	0	1	6120	639	23	1		1	FUK	16	70502787	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	39519949	70502787	19851966	151	39811											
ACSF3	197322	genome.wustl.edu	37	chr16	89167129	89167129	+	Missense_Mutation	SNP	T	T	C	0	1	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	tcaccttccggcgcctgggcTgcgccttggcgtcctgccgg	1	9	14	17	5	1	0	1	0	0	0	3	0	3	0	6	4	2	1	6	4	0	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr16:89167129T>C	ENST00000317447.4	+	3	417	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.C14R	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	14					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)		GCGCCTGGGCTGCGCCTTGGC	0.672																																																	0													15	17	16					16																	89167129		2173	4235	6408	SO:0001583	missense	0			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.40T>C	16.37:g.89167129T>C	ENSP00000320646:p.Cys14Arg		A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.C14R	ENST00000317447.4	37	c.40	CCDS10974.1	16	.	.	.	.	.	.	.	.	.	.	T	7.037	0.561745	0.13498	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.53640	1.04;0.61;1.04	5.02	2.67	0.31697	.	2.666840	0.00851	N	0.001834	T	0.38558	0.1045	L	0.36672	1.1	0.09310	N	1	B	0.23854	0.092	B	0.19148	0.024	T	0.14839	-1.0458	10	0.20519	T	0.43	0.0	6.2401	0.20785	0.0:0.3261:0.0:0.6739	.	14	Q4G176	ACSF3_HUMAN	R	14	ENSP00000320646:C14R;ENSP00000440734:C14R;ENSP00000384627:C14R	ENSP00000320646:C14R	C	+	1	0	ACSF3	87694630	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	0.071000	0.14594	0.760000	0.33108	0.528000	0.53228	TGC	ACSF3	-	NULL	ENSG00000176715		0.672	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF3	HGNC	protein_coding	OTTHUMT00000269919.1		0	13	0	T	NM_174917		89167129	1			no_errors	ENST00000317447	ensembl	human	known	74_37	missense	33.33	10	5	SNP	0.000	C	C	89167129	T	C	89167129	3	2	156	1	0	0	0	0	1	0	0	0	176	1580	55	4	42	4	ACSF3	16	89167129	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	18664342	89167129	1187624	152	39812											
SLC25A11	8402	genome.wustl.edu	37	chr17	4841060	4841060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgaggaagagacgcttGtaggccttgttcatctgctc	8	11	11	11	1	2	2	1	1	1	1	3	4	2	3	2	2	1	4	2	2	2	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr17:4841060G>A	ENST00000225665.7	-	8	1261	c.921C>T	c.(919-921)taC>taT	p.Y307Y	RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|SLC25A11_ENST00000544061.2_Silent_p.Y256Y|RNF167_ENST00000575111.1_5'Flank|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	307					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						AGAGACGCTTGTAGGCCTTGT	0.647																																					Esophageal Squamous(144;1178 2388 18010 48797)												0													70	78	75					17																	4841060		2203	4300	6503	SO:0001819	synonymous_variant	0			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.921C>T	17.37:g.4841060G>A			F5GY65|O75537|Q969P7	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.Y307	ENST00000225665.7	37	c.921	CCDS11059.1	17																																																																																			SLC25A11	-	pfam_Mitochondrial_sb/sol_carrier	ENSG00000108528		0.647	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A11	HGNC	protein_coding	OTTHUMT00000216852.4	-	0	46	0	G	NM_003562		4841060	-1	tier1	-	no_errors	ENST00000225665	ensembl	human	known	74_37	silent	76.19	10	32	SNP	1.000	A	A	4841060	G	A	4841060	2	1	156	1	0	0	0	0	0	0	0	1	14518	1372	48	3		3	SLC25A11	17	4841060	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09		4841060	76354150	153	39813											
TP53	7157	genome.wustl.edu	37	chr17	7577018	7577018	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcttgtcctgcttgcttaCctcgcttagtgctccctggg	2	16	9	14	1	1	0	0	0	1	0	4	0	3	0	3	1	4	4	3	1	2	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr17:7577018C>T	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_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	0	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	-	e7+1	ENST00000269305.4	37	c.919+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	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	.	TP53	-	-	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	54	0	C	NM_000546	Intron	7577018	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	66.23	26	51	SNP	0.976	T	T	7577018	C	T	7577018	5	4	156	1	0	0	0	0	0	0	1	0	16429	521	18	3	366	3	TP53	17	7577018	Splice_Site	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	2735958	7577018	73618192	154	39814											
DNAH2	146754	genome.wustl.edu	37	chr17	7661923	7661923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgcactgggccttgaaggGggccagtgccttcttcatca	7	10	12	12	0	3	1	2	1	1	0	3	1	3	1	3	3	2	1	3	3	1	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr17:7661923G>T	ENST00000572933.1	+	14	3622	c.2162G>T	c.(2161-2163)gGg>gTg	p.G721V	DNAH2_ENST00000389173.2_Missense_Mutation_p.G721V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	721	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCTTGAAGGGGGCCAGTGCC	0.537																																																	0													72	70	71					17																	7661923		2203	4300	6503	SO:0001583	missense	0			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.2162G>T	17.37:g.7661923G>T	ENSP00000458355:p.Gly721Val		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G721V	ENST00000572933.1	37	c.2162	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518837	0.64634	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.25579	1.79	5.91	5.91	0.95273	.	0.125717	0.52532	D	0.000078	T	0.53818	0.1820	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.50224	-0.8853	10	0.52906	T	0.07	.	19.0726	0.93145	0.0:0.0:1.0:0.0	.	721	Q9P225	DYH2_HUMAN	V	721	ENSP00000373825:G721V	ENSP00000353818:G721V	G	+	2	0	DNAH2	7602648	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.733000	0.74796	2.809000	0.96659	0.555000	0.69702	GGG	DNAH2	-	NULL	ENSG00000183914		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	-	0	22	0	G	NM_020877		7661923	1	tier1	-	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	39.39	20	13	SNP	1.000	T	T	7661923	G	T	7661923	3	4	156	1	0	0	0	0	1	0	0	0	4616	1232	43	3	2212	3	DNAH2	17	7661923	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	84905	7661923	73533287	155	39815											
DNAH2	146754	genome.wustl.edu	37	chr17	7696048	7696048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctggtgagcagcttggtgGccaaccagaatcccattctg	9	9	11	12	0	1	2	0	1	1	1	2	2	2	2	4	3	3	2	4	3	2	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr17:7696048G>A	ENST00000572933.1	+	47	8679	c.7219G>A	c.(7219-7221)Gcc>Acc	p.A2407T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A2407T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2407	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(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)				CAGCTTGGTGGCCAACCAGAA	0.617																																																	0													73	63	66					17																	7696048		2203	4300	6503	SO:0001583	missense	0			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.7219G>A	17.37:g.7696048G>A	ENSP00000458355:p.Ala2407Thr		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2407T	ENST00000572933.1	37	c.7219	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600420	0.28534	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22945	1.93	5.47	0.546	0.17196	.	0.539436	0.19197	N	0.120291	T	0.14527	0.0351	L	0.31120	0.905	0.33393	D	0.576382	B	0.06786	0.001	B	0.15870	0.014	T	0.26430	-1.0103	10	0.13470	T	0.59	.	8.2505	0.31715	0.0824:0.0:0.4103:0.5073	.	2407	Q9P225	DYH2_HUMAN	T	2407	ENSP00000373825:A2407T	ENSP00000353818:A2407T	A	+	1	0	DNAH2	7636773	0.244000	0.23889	0.930000	0.37139	0.850000	0.48378	0.384000	0.20668	0.593000	0.29745	0.643000	0.83706	GCC	DNAH2	-	superfamily_P-loop_NTPase	ENSG00000183914		0.617	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1		0	18	0	G	NM_020877		7696048	1			no_errors	ENST00000389173	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.128	A	A	7696048	G	A	7696048	3	1	156	1	0	0	0	0	1	0	0	0	4616	1203	42	3	7401	3	DNAH2	17	7696048	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	34125	7696048	73499162	156	39816											
CDRT1	374286	genome.wustl.edu	37	chr17	15522728	15522728	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagatcttccaggctaaGacacgcgtctcacacttccg	11	8	9	13	3	2	3	1	0	2	3	5	4	4	3	2	1	0	1	2	1	2	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr17:15522728G>T	ENST00000395906.3	-	1	98	c.99C>A	c.(97-99)gtC>gtA	p.V33V	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	33										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TCCAGGCTAAGACACGCGTCT	0.463																																																	0													274	280	278					17																	15522728		2202	4299	6501	SO:0001819	synonymous_variant	0			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.99C>A	17.37:g.15522728G>T			O43848|O95611	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V33	ENST00000395906.3	37	c.99	CCDS45619.1	17																																																																																			CDRT1	-	NULL	ENSG00000241322		0.463	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CDRT1	HGNC	protein_coding	OTTHUMT00000448127.1	-	0	106	0	G	NM_006382		15522728	-1	tier1	-	no_errors	ENST00000395906	ensembl	human	known	74_37	silent	30.77	89	40	SNP	0.185	T	T	15522728	G	T	15522728	2	4	156	1	0	0	0	0	0	0	0	1	3181	929	33	3		3	CDRT1	17	15522728	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	7826680	15522728	65672482	157	39817											
SMCR8	140775	genome.wustl.edu	37	chr17	18219576	18219576	+	Frame_Shift_Del	DEL	T	T	-																															gccgttttgcatggcttataTctctgcagaccagcataaaa																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr17:18219576delT	ENST00000406438.3	+	1	953	c.473delT	c.(472-474)atcfs	p.I158fs	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	158						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						ATGGCTTATATCTCTGCAGAC	0.517																																																	0													58	61	60					17																	18219576		2203	4300	6503	SO:0001589	frameshift_variant	0			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.473delT	17.37:g.18219576delT	ENSP00000385025:p.Ile158fs		A5PKZ5|Q3ZCN0|Q6PJL3	Frame_Shift_Del	DEL	pfam_Folliculin	p.I158fs	ENST00000406438.3	37	c.473	CCDS11195.2	17																																																																																			SMCR8	-	pfam_Folliculin	ENSG00000176994		0.517	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2		0	22	0	T	NM_144775		18219576	1	tier1		no_errors	ENST00000406438	ensembl	human	known	74_37	frame_shift_del	29.41	24	10	DEL	1.000	-	-	18219576	T	-	18219576	7	5	156	1	0	1	0	1	0	0	0	0	14837	1435	50	0	475	0	SMCR8	17	18219576	Frame_Shift_Del	DEL	T	TCGA-V5-A7RC-01B-11D-A403-09	2696848	18219576	62975634	158	39818											
FLOT2	2319	genome.wustl.edu	37	chr17	27211278	27211278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagttaaagctaccccctCggccgtctctacgtcctcgc	7	9	7	18	4	1	0	0	0	1	0	5	0	2	0	4	1	3	2	4	1	4	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr17:27211278C>T	ENST00000394908.4	-	3	291	c.187G>A	c.(187-189)Gag>Aag	p.E63K	FLOT2_ENST00000585169.1_Intron|FLOT2_ENST00000394906.2_Missense_Mutation_p.E118K|FLOT2_ENST00000577789.1_Intron	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	63					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCTACCCCCTCGGCCGTCTCT	0.612																																																	0													65	73	71					17																	27211278		2074	4201	6275	SO:0001583	missense	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.187G>A	17.37:g.27211278C>T	ENSP00000378368:p.Glu63Lys			Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.E63K	ENST00000394908.4	37	c.187	CCDS11245.2	17	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817746	0.71028	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	D;D	0.95205	-3.64;-3.64	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.89726	0.6798	N	0.20483	0.58	0.80722	D	1	B	0.18968	0.032	B	0.23018	0.043	D	0.85562	0.1228	10	0.25106	T	0.35	-25.7445	17.4593	0.87616	0.0:1.0:0.0:0.0	.	63	Q14254	FLOT2_HUMAN	K	118;63	ENSP00000378366:E118K;ENSP00000378368:E63K	ENSP00000378366:E118K	E	-	1	0	FLOT2	24235404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.353000	0.79882	0.563000	0.77884	GAG	FLOT2	-	pfam_Band_7	ENSG00000132589		0.612	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	-	0	47	0	C	NM_004475		27211278	-1	tier1	-	no_errors	ENST00000394908	ensembl	human	known	74_37	missense	17.50	33	7	SNP	1.000	T	T	27211278	C	T	27211278	3	4	156	1	0	0	0	0	1	0	0	0	5959	893	31	1	1135	1	FLOT2	17	27211278	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	8991702	27211278	53983932	159	39819											
AMAC1	146861	genome.wustl.edu	37	chr17	33520817	33520817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtccaggtcccacaatgatGattagtcctaggatgcagcc	11	9	10	11	0	0	2	0	2	0	0	3	3	3	3	4	2	2	1	4	2	3	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr17:33520817G>A	ENST00000297307.5	-	1	595	c.510C>T	c.(508-510)atC>atT	p.I170I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	170	EamA 1.					integral component of membrane (GO:0016021)											CCACAATGATGATTAGTCCTA	0.607																																																	0													175	171	173					17																	33520817		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.510C>T	17.37:g.33520817G>A			B9EGE9	Silent	SNP	pfam_DMT	p.I170	ENST00000297307.5	37	c.510	CCDS11293.1	17																																																																																			SLC35G3	-	pfam_DMT	ENSG00000164729		0.607	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G3	HGNC	protein_coding	OTTHUMT00000256445.2	-	0	69	0	G	NM_152462		33520817	-1	tier1	-	no_errors	ENST00000297307	ensembl	human	known	74_37	silent	38.14	73	45	SNP	0.999	A	A	33520817	G	A	33520817	2	1	156	1	0	0	0	0	0	0	0	1	559	1280	45	3		3	AMAC1	17	33520817	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	6309539	33520817	47674393	160	39820											
KRT12	3859	genome.wustl.edu	37	chr17	39022479	39022479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgggcatttccaatgctgGctgaaatgatctggcaaaag	11	10	12	8	0	1	2	0	2	1	0	2	2	2	2	1	3	1	5	1	3	4	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr17:39022479G>A	ENST00000251643.4	-	2	601	c.578C>T	c.(577-579)gCc>gTc	p.A193V	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	193	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TCCAATGCTGGCTGAAATGAT	0.418																																																	0													78	67	70					17																	39022479		2203	4300	6503	SO:0001583	missense	0				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.578C>T	17.37:g.39022479G>A	ENSP00000251643:p.Ala193Val		B2R9E0	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.A193V	ENST00000251643.4	37	c.578	CCDS11378.1	17	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471945	0.63737	.	.	ENSG00000187242	ENST00000251643	D	0.88896	-2.44	6.07	4.09	0.47781	Filament (1);	0.000000	0.49916	D	0.000139	D	0.87951	0.6307	M	0.73753	2.245	0.44492	D	0.997433	P	0.47604	0.898	B	0.42138	0.377	D	0.88308	0.2954	10	0.56958	D	0.05	.	11.1568	0.48493	0.0656:0.0:0.8049:0.1295	.	193	Q99456	K1C12_HUMAN	V	193	ENSP00000251643:A193V	ENSP00000251643:A193V	A	-	2	0	KRT12	36276005	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	3.364000	0.52328	1.574000	0.49760	0.655000	0.94253	GCC	KRT12	-	pfam_IF	ENSG00000187242		0.418	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT12	HGNC	protein_coding	OTTHUMT00000257214.2	-	0	38	0	G	NM_000223		39022479	-1	tier1	-	no_errors	ENST00000251643	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	39022479	G	A	39022479	3	1	156	1	0	0	0	0	1	0	0	0	8476	1203	42	3	934	3	KRT12	17	39022479	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	5501662	39022479	42172731	161	39821											
ABCA10	10349	genome.wustl.edu	37	chr17	67183913	67183913	+	Missense_Mutation	SNP	T	T	C	0	1	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	tctccagagagctgcactacTgacagcctttcttgtttcag	8	13	8	12	0	3	2	1	1	2	1	4	3	3	2	2	0	4	3	2	0	1	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr17:67183913T>C	ENST00000269081.4	-	20	3148	c.2239A>G	c.(2239-2241)Agt>Ggt	p.S747G	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	747					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)					GCTGCACTACTGACAGCCTTT	0.418																																																	0													169	157	161					17																	67183913		2203	4300	6503	SO:0001583	missense	0			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.2239A>G	17.37:g.67183913T>C	ENSP00000269081:p.Ser747Gly		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S747G	ENST00000269081.4	37	c.2239	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	T	5.540	0.284613	0.10513	.	.	ENSG00000154263	ENST00000269081	T	0.77229	-1.08	2.76	-0.859	0.10685	.	.	.	.	.	T	0.64494	0.2603	L	0.37561	1.115	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.17979	0.02;0.012	T	0.46652	-0.9176	9	0.25106	T	0.35	.	8.1257	0.30997	0.0:0.4069:0.0:0.5931	.	747;747	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	G	747	ENSP00000269081:S747G	ENSP00000269081:S747G	S	-	1	0	ABCA10	64695508	0.060000	0.20803	0.000000	0.03702	0.156000	0.22039	1.471000	0.35365	-0.504000	0.06577	0.338000	0.21704	AGT	ABCA10	-	NULL	ENSG00000154263		0.418	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	-	0	95	0	T	NM_080282		67183913	-1	tier1	-	no_errors	ENST00000269081	ensembl	human	known	74_37	missense	35.19	70	38	SNP	0.000	C	C	67183913	T	C	67183913	3	2	156	1	0	0	0	0	1	0	0	0	29	1580	55	4	2476	4	ABCA10	17	67183913	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	28161434	67183913	14011297	162	39822											
SEH1L	81929	genome.wustl.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-																															tccagttatgcccagctcctTcctcctcctcctcctcctct																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|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)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC			A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P383in_frame_del	ENST00000262124.11	37	c.1137_1139	CCDS45832.1	18																																																																																			SEH1L	-	NULL	ENSG00000085415		0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEH1L	HGNC	protein_coding	OTTHUMT00000458254.1		0	26	0	TCC	NM_031216		12986929	1	tier1		no_errors	ENST00000399892	ensembl	human	known	74_37	in_frame_del	12.50	28	4	DEL	0.997:1.000:1.000	-	-	12986929	TCC	-	12986927	6	5	156	0	1	1	0	1	0	0	0	0	14054	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-V5-A7RC-01B-11D-A403-09		12986927	65090321	163	39823											
SMAD2	4087	genome.wustl.edu	37	chr18	45394822	45394822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggggcactaatactggaGgcaaaactgaaaaagttcaa	16	7	11	7	1	1	1	1	1	0	0	2	2	1	2	0	4	2	3	0	4	7	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr18:45394822G>C	ENST00000402690.2	-	5	921	c.527C>G	c.(526-528)cCt>cGt	p.P176R	SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000591214.1_Missense_Mutation_p.P146R|SMAD2_ENST00000356825.4_Missense_Mutation_p.P146R|SMAD2_ENST00000262160.6_Missense_Mutation_p.P176R|SMAD2_ENST00000586040.1_Missense_Mutation_p.P146R	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	176	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TAATACTGGAGGCAAAACTGA	0.438																																																	0													68	63	65					18																	45394822		2203	4300	6503	SO:0001583	missense	0			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"SMADs"	6768	protein-coding gene	gene with protein product		601366	"MAD, mothers against decapentaplegic homolog 2 (Drosophila)", "SMAD, mothers against DPP homolog 2 (Drosophila)"	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.527C>G	18.37:g.45394822G>C	ENSP00000384449:p.Pro176Arg			Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.P176R	ENST00000402690.2	37	c.527	CCDS11934.1	18	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901558	0.72754	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.95069	-3.59;-3.6;-3.59	5.58	5.58	0.84498	MAD homology, MH1 (2);	0.096454	0.85682	D	0.000000	D	0.96827	0.8964	M	0.64567	1.98	0.80722	D	1	D;P;D	0.89917	1.0;0.902;0.999	D;P;D	0.76071	0.987;0.74;0.98	D	0.96718	0.9530	10	0.62326	D	0.03	.	19.9474	0.97186	0.0:0.0:1.0:0.0	.	146;146;176	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	R	176;146;176	ENSP00000262160:P176R;ENSP00000349282:P146R;ENSP00000384449:P176R	ENSP00000262160:P176R	P	-	2	0	SMAD2	43648820	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.813000	0.99286	2.774000	0.95407	0.655000	0.94253	CCT	SMAD2	-	pfscan_MAD_homology_MH1	ENSG00000175387		0.438	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD2	HGNC	protein_coding	OTTHUMT00000450571.1	-	0	69	0	G	NM_005901		45394822	-1	tier1	-	no_errors	ENST00000262160	ensembl	human	known	74_37	missense	40.62	38	26	SNP	1.000	C	C	45394822	G	C	45394822	3	2	156	1	0	0	0	0	1	0	0	0	14803	1000	35	5	904	5	SMAD2	18	45394822	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	32407895	45394822	32682426	164	39824											
SERPINB4	6318	genome.wustl.edu	37	chr18	61305185	61305185	+	Missense_Mutation	SNP	A	A	G	1	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	ggctccaggtcatgcctgagAggtctgcatccccattgaag	8	9	12	12	0	2	2	1	2	1	1	4	3	4	2	4	3	2	2	4	3	1	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr18:61305185A>G	ENST00000341074.5	-	8	1056	c.941T>C	c.(940-942)cTc>cCc	p.L314P	SERPINB4_ENST00000356424.6_Missense_Mutation_p.L262P	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	314					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CATGCCTGAGAGGTCTGCATC	0.507																																																	0													169	148	155					18																	61305185		2203	4300	6503	SO:0001583	missense	0			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.941T>C	18.37:g.61305185A>G	ENSP00000343445:p.Leu314Pro		A8K847	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L314P	ENST00000341074.5	37	c.941	CCDS11986.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.018743|4.018743	0.75275|0.75275	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424|ENST00000413673	D;D|.	0.88975|.	-2.45;-2.45|.	4.41|4.41	4.41|4.41	0.53225|0.53225	Serpin domain (3);|.	0.377447|.	0.19187|.	N|.	0.120539|.	D|D	0.85336|0.85336	0.5673|0.5673	H|H	0.94886|0.94886	3.595|3.595	0.51233|0.51233	D|D	0.999917|0.999917	D;D;P|.	0.89917|.	0.994;1.0;0.953|.	D;D;P|.	0.77557|.	0.958;0.99;0.905|.	D|D	0.89356|0.89356	0.3664|0.3664	10|5	0.87932|.	D|.	0|.	.|.	13.2594|13.2594	0.60097|0.60097	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	314;314;293|.	Q5K684;P48594;Q9BYF7|.	.;SPB4_HUMAN;.|.	P|P	314;262|295	ENSP00000343445:L314P;ENSP00000348795:L262P|.	ENSP00000343445:L314P|.	L|S	-|-	2|1	0|0	SERPINB4|SERPINB4	59456165|59456165	0.993000|0.993000	0.37304|0.37304	0.182000|0.182000	0.23118|0.23118	0.283000|0.283000	0.27025|0.27025	6.943000|6.943000	0.75934|0.75934	1.967000|1.967000	0.57214|0.57214	0.496000|0.496000	0.49642|0.49642	CTC|TCT	SERPINB4	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000206073		0.507	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB4	HGNC	protein_coding	OTTHUMT00000133794.2	-	0	63	0	A	NM_175041		61305185	-1	tier1	-	no_errors	ENST00000341074	ensembl	human	known	74_37	missense	21.79	61	17	SNP	0.973	G	G	61305185	A	G	61305185	3	3	156	1	0	0	0	0	1	0	0	0	14148	304	11	4	235	4	SERPINB4	18	61305185	Missense_Mutation	SNP	A	TCGA-V5-A7RC-01B-11D-A403-09	15910363	61305185	16772063	165	39825											
SERPINB2	5055	genome.wustl.edu	37	chr18	61570462	61570462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccacagtttgtggcaGatcatccttttctttttctt	6	17	8	10	0	3	1	1	0	2	1	4	2	4	1	2	2	0	2	2	2	0	6			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr18:61570462G>T	ENST00000299502.4	+	8	1251	c.1171G>T	c.(1171-1173)Gat>Tat	p.D391Y	SERPINB2_ENST00000457692.1_Missense_Mutation_p.D391Y	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	391					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	GTTTGTGGCAGATCATCCTTT	0.463																																																	0													96	99	98					18																	61570462		2203	4300	6503	SO:0001583	missense	0			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.1171G>T	18.37:g.61570462G>T	ENSP00000299502:p.Asp391Tyr		Q96E96	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.D391Y	ENST00000299502.4	37	c.1171	CCDS11989.1	18	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666332	0.88251	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	D;D	0.89552	-2.53;-2.53	5.64	5.64	0.86602	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97182	0.9079	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98374	1.0555	10	0.87932	D	0	.	19.0463	0.93020	0.0:0.0:1.0:0.0	.	391	P05120	PAI2_HUMAN	Y	391	ENSP00000299502:D391Y;ENSP00000401645:D391Y	ENSP00000299502:D391Y	D	+	1	0	SERPINB2	59721442	1.000000	0.71417	0.752000	0.31206	0.939000	0.58152	6.712000	0.74681	2.812000	0.96745	0.557000	0.71058	GAT	SERPINB2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000197632		0.463	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB2	HGNC	protein_coding	OTTHUMT00000134009.1	-	0	55	0	G	NM_002575		61570462	1	tier1	-	no_errors	ENST00000299502	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.999	T	T	61570462	G	T	61570462	3	4	156	1	0	0	0	0	1	0	0	0	14146	942	33	3	1197	3	SERPINB2	18	61570462	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	265277	61570462	16506786	166	39826											
ATP9B	374868	genome.wustl.edu	37	chr18	76856506	76856506	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgagtctgcgcatttGgatgaaatgccactaatgat	12	11	12	6	1	1	3	0	3	1	0	1	6	1	5	1	2	2	1	1	2	2	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr18:76856506G>A	ENST00000426216.2	+	2	167	c.150G>A	c.(148-150)ttG>ttA	p.L50L	ATP9B_ENST00000458297.2_5'UTR|ATP9B_ENST00000586722.1_Silent_p.L50L|ATP9B_ENST00000307671.7_Silent_p.L50L|ATP9B_ENST00000591464.1_3'UTR	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	50					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)		CTGCGCATTTGGATGAAATGC	0.443																																																	0													178	155	163					18																	76856506		2203	4300	6503	SO:0001819	synonymous_variant	0			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.150G>A	18.37:g.76856506G>A			O60872|Q08AD8|Q08AD9	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L50	ENST00000426216.2	37	c.150	CCDS12014.1	18																																																																																			ATP9B	-	NULL	ENSG00000166377		0.443	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	HGNC	protein_coding	OTTHUMT00000256402.3	-	0	112	0	G	NM_198531		76856506	1	tier1	-	no_errors	ENST00000426216	ensembl	human	known	74_37	silent	14.04	153	25	SNP	1.000	A	A	76856506	G	A	76856506	2	1	156	1	0	0	0	0	0	0	0	1	1200	1339	47	3		3	ATP9B	18	76856506	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	15286044	76856506	1220742	167	39827											
POLRMT	5442	genome.wustl.edu	37	chr19	629696	629696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggccaggagcctctgctgCtgacctgagagctgggcctg	7	7	15	12	0	1	2	0	2	1	1	1	4	1	3	4	3	4	3	4	3	1	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:629696C>G	ENST00000588649.2	-	3	750	c.666G>C	c.(664-666)caG>caC	p.Q222H		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	222					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)		GCCTCTGCTGCTGACCTGAGA	0.692																																																	0													13	14	13					19																	629696		2176	4265	6441	SO:0001583	missense	0				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.666G>C	19.37:g.629696C>G	ENSP00000465759:p.Gln222His		O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.Q222H	ENST00000588649.2	37	c.666	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	C	4.984	0.182713	0.09495	.	.	ENSG00000099821	ENST00000215591	T	0.43688	0.94	3.08	0.764	0.18465	.	1.157020	0.06232	N	0.688839	T	0.35278	0.0926	L	0.44542	1.39	0.23598	N	0.997322	P	0.39964	0.697	B	0.34824	0.19	T	0.33317	-0.9873	10	0.39692	T	0.17	-24.9946	11.895	0.52652	0.0:0.6466:0.3534:0.0	.	222	O00411	RPOM_HUMAN	H	222	ENSP00000215591:Q222H	ENSP00000215591:Q222H	Q	-	3	2	POLRMT	580696	0.651000	0.27340	0.013000	0.15412	0.029000	0.11900	0.850000	0.27737	0.293000	0.22520	0.561000	0.74099	CAG	POLRMT	-	NULL	ENSG00000099821		0.692	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	-	0	62	0	C	NM_005035		629696	-1	tier1	-	no_errors	ENST00000588649	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.841	G	G	629696	C	G	629696	3	3	156	1	0	0	0	0	1	0	0	0	12277	796	28	5	3102	5	POLRMT	19	629696	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09		629696	58499287	168	39828											
GAMT	2593	genome.wustl.edu	37	chr19	1398805	1398805	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcacagtccagcccacccagGgggtcaggaagggaccctcc	9	3	13	16	0	1	0	1	0	0	0	3	2	3	2	5	4	1	1	5	4	1	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:1398805G>A	ENST00000252288.2	-	5	637				GAMT_ENST00000447102.3_Missense_Mutation_p.P227L|AC005329.7_ENST00000501448.1_RNA	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	GCCCACCCAGGGGGTCAGGAA	0.597																																					Colon(167;1531 1939 13427 28842 31956)												0													21	24	23					19																	1398805		1327	2306	3633	SO:0001627	intron_variant	0			Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.570+109C>T	19.37:g.1398805G>A			A8K0A0|Q53Y34|Q8WVJ1	Missense_Mutation	SNP	NULL	p.P227L	ENST00000252288.2	37	c.680	CCDS12064.1	19	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507319	0.64410	.	.	ENSG00000130005	ENST00000447102	D	0.94828	-3.53	3.0	-1.2	0.09554	.	.	.	.	.	D	0.88100	0.6346	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.76038	-0.3105	8	0.41790	T	0.15	.	5.0998	0.14753	0.136:0.4125:0.4515:0.0	.	227	A8K0A0	.	L	227	ENSP00000403536:P227L	ENSP00000403536:P227L	P	-	2	0	GAMT	1349805	0.000000	0.05858	0.000000	0.03702	0.694000	0.40290	-0.248000	0.08854	-0.242000	0.09667	0.313000	0.20887	CCC	GAMT	-	NULL	ENSG00000130005		0.597	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAMT	HGNC	protein_coding	OTTHUMT00000449739.1	-	0	50	0	G	NM_138924		1398805	-1	tier1	-	no_errors	ENST00000447102	ensembl	human	known	74_37	missense	50.00	25	25	SNP	0.000	A	A	1398805	G	A	1398805	1	1	156	0	1	0	0	0	0	0	0	0	6256	1232	43	3		3	GAMT	19	1398805	Intron	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	769109	1398805	57730178	169	39829											
GTF2F1	2962	genome.wustl.edu	37	chr19	6381602	6381602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcggcgccttggccttGctctcaggctcttcttggga	2	13	13	13	2	3	0	1	0	3	0	4	1	3	1	2	4	3	3	2	4	0	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:6381602G>T	ENST00000394456.5	-	8	1325	c.861C>A	c.(859-861)agC>agA	p.S287R	GTF2F1_ENST00000429701.2_Missense_Mutation_p.S202R|PSPN_ENST00000597721.1_5'Flank	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	287	Glu-rich.				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						CCTTGGCCTTGCTCTCAGGCT	0.687																																																	0													45	46	45					19																	6381602		2202	4300	6502	SO:0001583	missense	0				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.861C>A	19.37:g.6381602G>T	ENSP00000377969:p.Ser287Arg		B2RCS0|Q9BWN0	Missense_Mutation	SNP	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	p.S287R	ENST00000394456.5	37	c.861	CCDS12165.1	19	.	.	.	.	.	.	.	.	.	.	G	7.517	0.655838	0.14580	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045	T;T	0.44482	0.92;0.92	4.9	2.53	0.30540	.	0.380245	0.28247	N	0.016043	T	0.22742	0.0549	N	0.08118	0	0.28505	N	0.913818	B;B;B	0.21381	0.055;0.055;0.022	B;B;B	0.31869	0.076;0.137;0.097	T	0.23868	-1.0176	10	0.17832	T	0.49	-34.1039	9.7706	0.40587	0.0:0.3752:0.4926:0.1322	.	202;185;287	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	R	287;202;347	ENSP00000377969:S287R;ENSP00000392107:S202R	ENSP00000377969:S287R	S	-	3	2	GTF2F1	6332602	0.992000	0.36948	0.991000	0.47740	0.084000	0.17831	0.704000	0.25661	1.140000	0.42260	0.655000	0.94253	AGC	GTF2F1	-	pfam_TFIIF-alpha	ENSG00000125651		0.687	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F1	HGNC	protein_coding	OTTHUMT00000398033.1	-	0	38	0	G	NM_002096		6381602	-1	tier1	-	no_errors	ENST00000394456	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.980	T	T	6381602	G	T	6381602	3	4	156	1	0	0	0	0	1	0	0	0	6885	1310	46	3	716	3	GTF2F1	19	6381602	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	4982797	6381602	52747381	170	39830											
MUC16	94025	genome.wustl.edu	37	chr19	9076812	9076813	+	In_Frame_Ins	INS	-	-	TGG																															tgagattgagttggttcccaINStggtggtgatggtggtggag																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:9076812_9076813insTGG	ENST00000397910.4	-	3	10836_10837	c.10633_10634insCCA	c.(10633-10635)atg>aCCAtg	p.3544_3545insT		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3545	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						GTTGGTTCCCATGGTGGTGATG	0.535																																																	0																																										SO:0001652	inframe_insertion	0			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.10631_10633dupCCA	19.37:g.9076816_9076818dupTGG	ENSP00000381008:p.Thr3544_Thr3544dup		Q6ZQW5|Q96RK2	In_Frame_Ins	INS	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.3545in_frame_insT	ENST00000397910.4	37	c.10634_10633	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.535	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	87	0	-	NM_024690		9076813	-1	tier1		no_errors	ENST00000397910	ensembl	human	known	74_37	in_frame_ins	14.29	96	16	INS	0.001:0.000	TGG	TGG	9076813	-	TGG	9076812	7	5	156	1	0	1	1	0	0	0	0	0	10011	217	8	0	33217	0	MUC16	19	9076812	In_Frame_Ins	INS	-	TCGA-V5-A7RC-01B-11D-A403-09	2695210	9076812	50052171	171	39831											
ECSIT	51295	genome.wustl.edu	37	chr19	11617015	11617015	+	Missense_Mutation	SNP	T	T	A	0	1	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	cagactagctctggccctgcTgctgtcgctgcaggttgtcg	4	11	13	13	2	1	1	0	0	1	1	3	1	1	1	1	2	4	6	1	2	1	2	rs561466699		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:11617015T>A	ENST00000270517.7	-	8	1415	c.1280A>T	c.(1279-1281)cAg>cTg	p.Q427L	CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000252440.7_3'UTR|ECSIT_ENST00000417981.2_Missense_Mutation_p.Q213L|ZNF653_ENST00000293771.5_5'Flank|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000591104.1_3'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	427					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CTGGCCCTGCTGCTGTCGCTG	0.662																																																	0													55	56	56					19																	11617015		2152	4207	6359	SO:0001583	missense	0			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.1280A>T	19.37:g.11617015T>A	ENSP00000270517:p.Gln427Leu		E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	pfam_ECSIT	p.Q427L	ENST00000270517.7	37	c.1280	CCDS12262.1	19	.	.	.	.	.	.	.	.	.	.	T	14.41	2.525658	0.44969	.	.	ENSG00000130159	ENST00000270517;ENST00000417981	T;T	0.34472	1.36;1.37	5.6	0.946	0.19549	.	0.493997	0.19588	N	0.110695	T	0.25158	0.0611	L	0.51422	1.61	0.30513	N	0.769259	B;B	0.29646	0.253;0.164	B;B	0.25291	0.059;0.027	T	0.13072	-1.0523	10	0.33940	T	0.23	-26.0387	4.2775	0.10816	0.1387:0.2437:0.0:0.6176	.	213;427	E9PAN9;Q9BQ95	.;ECSIT_HUMAN	L	427;213	ENSP00000270517:Q427L;ENSP00000412712:Q213L	ENSP00000270517:Q427L	Q	-	2	0	ECSIT	11478015	0.979000	0.34478	0.729000	0.30791	0.837000	0.47467	0.263000	0.18478	0.044000	0.15775	-0.386000	0.06593	CAG	ECSIT	-	NULL	ENSG00000130159		0.662	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECSIT	HGNC	protein_coding	OTTHUMT00000442603.2	-	0	47	0	T	NM_016581		11617015	-1	tier1	-	no_errors	ENST00000270517	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.007	A	A	11617015	T	A	11617015	3	1	156	1	0	0	0	0	1	0	0	0	4914	1580	55	5	19	5	ECSIT	19	11617015	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	2540203	11617015	47511968	172	39832											
NOTCH3	4854	genome.wustl.edu	37	chr19	15291625	15291625	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacaaggctggcggctgcaCcaatccaccagcgtctggag	9	6	13	13	2	1	1	0	1	1	0	2	2	2	2	3	4	2	3	3	4	2	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:15291625C>T	ENST00000263388.2	-	19	3084	c.3009G>A	c.(3007-3009)tgG>tgA	p.W1003*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1003	EGF-like 26. {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)			GGCGGCTGCACCAATCCACCA	0.617																																																	0													29	28	28					19																	15291625		2203	4299	6502	SO:0001587	stop_gained	0			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.3009G>A	19.37:g.15291625C>T	ENSP00000263388:p.Trp1003*		Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.W1003*	ENST00000263388.2	37	c.3009	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.849694	0.98525	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	5.13	4.08	0.47627	.	0.000000	0.30383	N	0.009745	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4849	0.67609	0.0:0.8517:0.1483:0.0	.	.	.	.	X	1003;953	.	ENSP00000263388:W1003X	W	-	3	0	NOTCH3	15152625	1.000000	0.71417	0.998000	0.56505	0.098000	0.18820	4.544000	0.60691	1.143000	0.42306	0.563000	0.77884	TGG	NOTCH3	-	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.617	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	79	0	C	NM_000435		15291625	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	nonsense	31.75	43	20	SNP	1.000	T	T	15291625	C	T	15291625	4	4	156	1	0	0	0	0	0	1	0	0	10589	508	18	3	4016	3	NOTCH3	19	15291625	Nonsense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	3674610	15291625	43837358	173	39833											
ATP13A1	57130	genome.wustl.edu	37	chr19	19768201	19768201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaaagctccgagaagtcagGcaccaccatctcggccctgc	11	5	10	15	2	2	1	1	0	1	1	4	3	3	1	4	2	2	2	4	2	3	0			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:19768201G>A	ENST00000357324.6	-	4	720	c.694C>T	c.(694-696)Cct>Tct	p.P232S	ATP13A1_ENST00000496082.1_5'Flank|ATP13A1_ENST00000291503.5_Missense_Mutation_p.P114S	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	232						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						GAGAAGTCAGGCACCACCATC	0.592																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												0													53	46	48					19																	19768201		2197	4289	6486	SO:0001583	missense	0			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.694C>T	19.37:g.19768201G>A	ENSP00000349877:p.Pro232Ser		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.P232S	ENST00000357324.6	37	c.694	CCDS32970.2	19	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406173	0.83230	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.88586	-2.4;-2.4	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.95182	0.8438	M	0.91459	3.21	0.80722	D	1	D;D	0.61697	0.99;0.985	P;D	0.65874	0.878;0.939	D	0.96209	0.9151	10	0.87932	D	0	-15.4288	15.5416	0.76052	0.0:0.0:1.0:0.0	.	232;114	Q9HD20;Q9HD20-2	AT131_HUMAN;.	S	114;232	ENSP00000291503:P114S;ENSP00000349877:P232S	ENSP00000291503:P114S	P	-	1	0	ATP13A1	19629201	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.086000	0.94088	2.278000	0.76064	0.467000	0.42956	CCT	ATP13A1	-	tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000105726		0.592	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	-	0	75	0	G	NM_020410		19768201	-1	tier1	-	no_errors	ENST00000357324	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	19768201	G	A	19768201	3	1	156	1	0	0	0	0	1	0	0	0	1124	1203	42	3	3012	3	ATP13A1	19	19768201	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	4476576	19768201	39360782	174	39834											
CHST8	64377	genome.wustl.edu	37	chr19	34263698	34263698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccatgtcagccggctctgCagcccctgcctcatcgacta	7	8	9	17	2	3	0	2	0	1	0	4	2	3	0	5	1	4	2	5	1	1	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:34263698C>T	ENST00000262622.4	+	4	1763	c.1005C>T	c.(1003-1005)tgC>tgT	p.C335C	CHST8_ENST00000438847.3_Silent_p.C335C|CHST8_ENST00000434302.1_Silent_p.C335C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	335					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCCGGCTCTGCAGCCCCTGCC	0.622																																																	0													71	55	60					19																	34263698		2203	4300	6503	SO:0001819	synonymous_variant	0			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1005C>T	19.37:g.34263698C>T			Q9H3N2	Silent	SNP	pfam_Sulfotransferase	p.C335	ENST00000262622.4	37	c.1005	CCDS12433.1	19																																																																																			CHST8	-	pfam_Sulfotransferase	ENSG00000124302		0.622	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST8	HGNC	protein_coding	OTTHUMT00000451453.1	-	0	38	0	C	NM_022467		34263698	1	tier1	-	no_errors	ENST00000262622	ensembl	human	known	74_37	silent	56.36	24	31	SNP	1.000	T	T	34263698	C	T	34263698	2	4	156	1	0	0	0	0	0	0	0	1	3417	718	25	3		3	CHST8	19	34263698	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	14495497	34263698	24865285	175	39835											
ZNF540	163255	genome.wustl.edu	37	chr19	38103282	38103282	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaagacctttagacttagTttttaccttactgaacacag	13	13	7	8	0	0	3	0	1	0	2	0	4	0	4	2	1	3	1	2	1	6	7			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:38103282T>A	ENST00000592533.1	+	5	1433	c.1101T>A	c.(1099-1101)agT>agA	p.S367R	ZNF540_ENST00000316433.4_Missense_Mutation_p.S367R|ZNF540_ENST00000589117.1_Missense_Mutation_p.S335R|ZNF540_ENST00000343599.5_Missense_Mutation_p.S367R	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	367					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGACTTAGTTTTTACCTTA	0.393																																																	0													74	73	73					19																	38103282		2203	4300	6503	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1101T>A	19.37:g.38103282T>A	ENSP00000466274:p.Ser367Arg		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S367R	ENST00000592533.1	37	c.1101	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	T	9.520	1.108150	0.20714	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.15372	2.43	2.39	-3.36	0.04913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08403	0.0209	L	0.33792	1.035	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.04013	0.001;0.001	T	0.41124	-0.9526	9	0.17369	T	0.5	.	0.4864	0.00557	0.2895:0.2288:0.2929:0.1888	.	335;367	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	R	367;335	ENSP00000324598:S367R	ENSP00000324598:S367R	S	+	3	2	ZNF540	42795122	0.000000	0.05858	0.000000	0.03702	0.899000	0.52679	-3.904000	0.00338	-0.805000	0.04404	0.254000	0.18369	AGT	ZNF540	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.393	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	-	0	77	0	T	NM_152606		38103282	1	tier1	-	no_errors	ENST00000316433	ensembl	human	known	74_37	missense	20.90	53	14	SNP	0.000	A	A	38103282	T	A	38103282	3	1	156	1	0	0	0	0	1	0	0	0	18023	1722	60	5	1115	5	ZNF540	19	38103282	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	3839584	38103282	21025701	176	39836											
ACTN4	81	genome.wustl.edu	37	chr19	39212306	39212306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccgcgtggagcagatcGccgccattgcccaggagctc	8	5	14	14	4	0	1	0	0	0	1	2	4	0	4	4	3	3	2	4	3	0	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:39212306G>A	ENST00000252699.2	+	12	1496	c.1420G>A	c.(1420-1422)Gcc>Acc	p.A474T	ACTN4_ENST00000390009.3_Missense_Mutation_p.A255T|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	474					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)			GGAGCAGATCGCCGCCATTGC	0.637																																					Colon(168;199 1940 10254 46213 46384)												0													95	73	81					19																	39212306		2203	4300	6503	SO:0001583	missense	0			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.1420G>A	19.37:g.39212306G>A	ENSP00000252699:p.Ala474Thr		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A474T	ENST00000252699.2	37	c.1420	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516716	0.85495	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000390009	T;T	0.47528	0.84;0.84	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000001	T	0.56366	0.1980	M	0.78223	2.4	0.80722	D	1	B;P	0.46784	0.054;0.884	B;P	0.46275	0.107;0.51	T	0.64330	-0.6433	10	0.51188	T	0.08	.	15.8417	0.78852	0.0:0.0:1.0:0.0	.	474;474	E7EV83;O43707	.;ACTN4_HUMAN	T	474;474;255	ENSP00000252699:A474T;ENSP00000439497:A255T	ENSP00000252699:A474T	A	+	1	0	ACTN4	43904146	1.000000	0.71417	0.101000	0.21167	0.796000	0.44982	9.657000	0.98554	2.340000	0.79590	0.462000	0.41574	GCC	ACTN4	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000130402		0.637	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1		0	43	0	G			39212306	1			no_errors	ENST00000252699	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.998	A	A	39212306	G	A	39212306	3	1	156	1	0	0	0	0	1	0	0	0	207	1087	38	1	1466	1	ACTN4	19	39212306	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	1109024	39212306	19916677	177	39837											
DMWD	1762	genome.wustl.edu	37	chr19	46294166	46294166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggctgcaatcacctcCtcattgaacagcttgctggt	7	11	11	12	0	2	1	2	1	0	0	3	1	3	1	2	3	4	4	2	3	2	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:46294166C>A	ENST00000270223.6	-	2	666	c.621G>T	c.(619-621)gaG>gaT	p.E207D	DMWD_ENST00000377735.3_Missense_Mutation_p.E207D|DMWD_ENST00000601370.1_5'UTR	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	207										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)		CAATCACCTCCTCATTGAACA	0.562																																																	0													108	100	103					19																	46294166		2203	4300	6503	SO:0001583	missense	0			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.621G>T	19.37:g.46294166C>A	ENSP00000270223:p.Glu207Asp			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E207D	ENST00000270223.6	37	c.621	CCDS33054.1	19	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529509	0.64860	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.44881	0.91;0.91	3.69	1.09	0.20402	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.071606	0.53938	D	0.000058	T	0.51805	0.1696	L	0.60455	1.87	0.48341	D	0.999634	D;D	0.61697	0.99;0.984	D;D	0.73380	0.98;0.956	T	0.45071	-0.9286	10	0.46703	T	0.11	-21.3756	5.8254	0.18550	0.0:0.5119:0.0:0.4881	.	207;207	G5E9A7;Q09019	.;DMWD_HUMAN	D	207	ENSP00000366964:E207D;ENSP00000270223:E207D	ENSP00000270223:E207D	E	-	3	2	DMWD	50986006	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.713000	0.25794	0.277000	0.22141	0.561000	0.74099	GAG	DMWD	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000185800		0.562	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DMWD	HGNC	protein_coding	OTTHUMT00000402063.1	-	0	35	0	C	NM_004943		46294166	-1	tier1	-	no_errors	ENST00000270223	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	46294166	C	A	46294166	3	1	156	1	0	0	0	0	1	0	0	0	4607	680	24	3	1419	3	DMWD	19	46294166	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	7081860	46294166	12834817	178	39838											
FOXA3	3171	genome.wustl.edu	37	chr19	46375506	46375506	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcccactttcccaggcctGggtgtcagcggtggcagcag	5	7	16	13	1	1	0	1	0	0	0	2	0	2	0	3	5	2	2	3	5	0	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:46375506G>T	ENST00000302177.2	+	2	440	c.243G>T	c.(241-243)ctG>ctT	p.L81L		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	81					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TCCCAGGCCTGGGTGTCAGCG	0.736																																																	0													18	22	21					19																	46375506		2199	4293	6492	SO:0001819	synonymous_variant	0			L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"Forkhead boxes"	5023	protein-coding gene	gene with protein product		602295	"hepatocyte nuclear factor 3, gamma"	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.243G>T	19.37:g.46375506G>T			A9LYI5|Q53F16|Q9UMW9	Silent	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L81	ENST00000302177.2	37	c.243	CCDS12677.1	19																																																																																			FOXA3	-	pfam_Fork-head_N	ENSG00000170608		0.736	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA3	HGNC	protein_coding	OTTHUMT00000461682.1	-	0	82	0	G			46375506	1	tier1	-	no_errors	ENST00000302177	ensembl	human	known	74_37	silent	5.32	89	5	SNP	0.974	T	T	46375506	G	T	46375506	2	4	156	1	0	0	0	0	0	0	0	1	6013	1335	47	3		3	FOXA3	19	46375506	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	81340	46375506	12753477	179	39839											
LRRC4B	94030	genome.wustl.edu	37	chr19	51020952	51020952	+	Missense_Mutation	SNP	T	T	C	0	1	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	cgctggggttgctgctgtagTgcgccttgaaggcggcagcc	4	9	17	11	3	0	1	0	1	0	0	0	1	0	1	2	4	4	6	2	4	2	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:51020952T>C	ENST00000599957.1	-	3	2215	c.2018A>G	c.(2017-2019)cAc>cGc	p.H673R	LRRC4B_ENST00000389201.3_Missense_Mutation_p.H673R			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	673					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)		GCTGCTGTAGTGCGCCTTGAA	0.687																																																	0													29	34	33					19																	51020952		1980	4143	6123	SO:0001583	missense	0			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.2018A>G	19.37:g.51020952T>C	ENSP00000471502:p.His673Arg		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.H673R	ENST00000599957.1	37	c.2018	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	T	5.691	0.311980	0.10789	.	.	ENSG00000131409	ENST00000389201	T	0.34275	1.37	2.62	2.62	0.31277	.	0.084489	0.44902	U	0.000412	T	0.31702	0.0805	L	0.59436	1.845	0.42157	D	0.99158	B	0.15141	0.012	B	0.12156	0.007	T	0.18493	-1.0335	10	0.44086	T	0.13	.	8.7271	0.34476	0.0:0.0:0.0:1.0	.	673	Q9NT99	LRC4B_HUMAN	R	673	ENSP00000373853:H673R	ENSP00000373853:H673R	H	-	2	0	LRRC4B	55712764	0.996000	0.38824	1.000000	0.80357	0.957000	0.61999	1.056000	0.30480	1.207000	0.43291	0.379000	0.24179	CAC	LRRC4B	-	NULL	ENSG00000131409		0.687	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	-	0	65	0	T	NM_001080457		51020952	-1	tier1	-	no_errors	ENST00000389201	ensembl	human	known	74_37	missense	29.23	46	19	SNP	1.000	C	C	51020952	T	C	51020952	3	2	156	1	0	0	0	0	1	0	0	0	9042	1696	59	4	127	4	LRRC4B	19	51020952	Missense_Mutation	SNP	T	TCGA-V5-A7RC-01B-11D-A403-09	4645446	51020952	8108031	180	39840											
SIGLEC7	27036	genome.wustl.edu	37	chr19	51645657	51645658	+	Frame_Shift_Ins	INS	-	-	G																															gctgctgctgcccctgctctINSgggggagggagagggtggaa																										TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:51645657_51645658insG	ENST00000317643.6	+	1	100_101	c.31_32insG	c.(31-33)tggfs	p.W11fs	SIGLEC7_ENST00000305628.7_Frame_Shift_Ins_p.W11fs|SIGLEC7_ENST00000600577.1_Frame_Shift_Ins_p.W11fs	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	11					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)		gcccctgctCTGGGGGAGGGAG	0.599																																																	0																																										SO:0001589	frameshift_variant	0			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.36dupG	19.37:g.51645662_51645662dupG	ENSP00000323328:p.Trp11fs		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Frame_Shift_Ins	INS	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R13fs	ENST00000317643.6	37	c.31_32	CCDS12826.1	19																																																																																			SIGLEC7	-	NULL	ENSG00000168995		0.599	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	HGNC	protein_coding	OTTHUMT00000464226.2		0	38	0	-	NM_016543		51645658	1	tier1		no_errors	ENST00000317643	ensembl	human	known	74_37	frame_shift_ins	35.56	29	16	INS	0.189:0.205	G	G	51645658	-	G	51645657	7	5	156	1	0	1	1	0	0	0	0	0	14358	1580	55	0	33	0	SIGLEC7	19	51645657	Frame_Shift_Ins	INS	-	TCGA-V5-A7RC-01B-11D-A403-09	624705	51645657	7483326	181	39841											
ZIK1	284307	genome.wustl.edu	37	chr19	58099957	58099957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacttctcacaggacgagtgGggacttcttgatgaggctca	9	11	12	9	1	3	2	2	2	2	0	4	5	3	4	0	4	1	1	0	4	1	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr19:58099957G>C	ENST00000597850.1	+	3	338	c.123G>C	c.(121-123)tgG>tgC	p.W41C	ZIK1_ENST00000307468.4_Intron|ZIK1_ENST00000599456.1_5'UTR|ZIK1_ENST00000598726.1_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.W28C	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		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;0.0257)		AGGACGAGTGGGGACTTCTTG	0.517																																																	0													266	208	227					19																	58099957		2203	4300	6503	SO:0001583	missense	0			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"Zinc fingers, C2H2-type", "-"	33104	protein-coding gene	gene with protein product			"zinc finger protein interacting with K protein 1 homolog (mouse)"				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.123G>C	19.37:g.58099957G>C	ENSP00000472867:p.Trp41Cys		O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W41C	ENST00000597850.1	37	c.123	CCDS33135.1	19	.	.	.	.	.	.	.	.	.	.	g	15.13	2.740655	0.49045	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.10288	2.89	3.3	2.25	0.28309	Krueppel-associated box (4);	.	.	.	.	T	0.43010	0.1228	H	0.96943	3.91	0.52099	D	0.999946	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.53049	-0.8493	9	0.87932	D	0	.	9.447	0.38703	0.1117:0.0:0.8883:0.0	.	28;41	F5H435;Q3SY52	.;ZIK1_HUMAN	C	28;22;41	ENSP00000438487:W28C	ENSP00000303820:W41C	W	+	3	0	ZIK1	62791769	0.997000	0.39634	0.542000	0.28115	0.989000	0.77384	3.250000	0.51445	0.713000	0.32060	0.442000	0.29010	TGG	ZIK1	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000171649		0.517	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZIK1	HGNC	protein_coding	OTTHUMT00000466791.1	-	0	73	0	G	NM_001010879		58099957	1	tier1	-	no_errors	ENST00000597850	ensembl	human	known	74_37	missense	5.88	112	7	SNP	0.949	C	C	58099957	G	C	58099957	3	2	156	1	0	0	0	0	1	0	0	0	17731	1241	43	5	133	5	ZIK1	19	58099957	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	6454300	58099957	1029026	182	39842											
SIGLEC1	6614	genome.wustl.edu	37	chr20	3682019	3682019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagtccagggtggaggttgCatttccaagggagttggtgg	8	10	18	5	0	0	0	0	0	0	0	2	3	2	2	2	6	1	3	2	6	2	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr20:3682019C>T	ENST00000344754.4	-	6	1497	c.1498G>A	c.(1498-1500)Gca>Aca	p.A500T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A500T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	500	Ig-like C2-type 4.				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)	p.A500T(1)		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						GTGGAGGTTGCATTTCCAAGG	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											80	64	70					20																	3682019		2203	4300	6503	SO:0001583	missense	0			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.1498G>A	20.37:g.3682019C>T	ENSP00000341141:p.Ala500Thr		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A500T	ENST00000344754.4	37	c.1498	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387390	0.61956	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.68903	-0.36;-0.36	5.69	-0.303	0.12792	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.976540	0.08323	N	0.963596	T	0.73606	0.3608	M	0.65975	2.015	0.09310	N	1	P;P	0.49559	0.925;0.846	P;P	0.53760	0.734;0.611	T	0.64791	-0.6324	10	0.17832	T	0.49	.	15.7684	0.78146	0.6833:0.3167:0.0:0.0	.	500;500	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	T	500	ENSP00000341141:A500T;ENSP00000202578:A500T	ENSP00000202578:A500T	A	-	1	0	SIGLEC1	3630019	0.000000	0.05858	0.001000	0.08648	0.977000	0.68977	-1.114000	0.03293	-0.342000	0.08363	0.655000	0.94253	GCA	SIGLEC1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000088827		0.587	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2		0	21	0	C	NM_023068		3682019	-1			no_errors	ENST00000344754	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.001	T	T	3682019	C	T	3682019	3	4	156	1	0	0	0	0	1	0	0	0	14350	710	25	3	3695	3	SIGLEC1	20	3682019	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09		3682019	59343501	183	39843											
DTD1	92675	genome.wustl.edu	37	chr20	18576693	18576693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatttgaggatgagagtGggaagcactggtcgaagagt	11	10	17	3	1	0	3	0	2	0	2	1	7	0	5	0	3	1	2	0	3	3	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr20:18576693G>T	ENST00000377452.3	+	3	358	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	60					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						GGATGAGAGTGGGAAGCACTG	0.493																																																	0													148	124	132					20																	18576693		2203	4300	6503	SO:0001583	missense	0			AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"chromosome 20 open reading frame 88", "D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.178G>T	20.37:g.18576693G>T	ENSP00000366672:p.Gly60Trp		A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Missense_Mutation	SNP	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls	p.G60W	ENST00000377452.3	37	c.178	CCDS13138.1	20	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754182	0.89843	.	.	ENSG00000125821	ENST00000377452	.	.	.	5.83	5.83	0.93111	D-Tyr tRNAtyr deacylase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.91623	0.7353	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94700	0.7882	9	0.87932	D	0	-11.5435	19.0992	0.93266	0.0:0.0:1.0:0.0	.	60	Q8TEA8	DTD1_HUMAN	W	60	.	ENSP00000366672:G60W	G	+	1	0	DTD1	18524693	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.986000	0.88173	2.741000	0.93983	0.655000	0.94253	GGG	DTD1	-	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls	ENSG00000125821		0.493	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTD1	HGNC	protein_coding	OTTHUMT00000078189.3	-	0	51	0	G	NM_080820		18576693	1	tier1	-	no_errors	ENST00000377452	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	18576693	G	T	18576693	3	4	156	1	0	0	0	0	1	0	0	0	4800	1348	47	3	188	3	DTD1	20	18576693	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	14894674	18576693	44448827	184	39844											
CRNKL1	51340	genome.wustl.edu	37	chr20	20021343	20021343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacttaccaatgctcttctgGctaatgacagattcttctgt	9	16	6	10	0	4	2	0	1	4	1	4	2	4	2	1	1	3	2	1	1	4	6	rs566498711		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr20:20021343G>A	ENST00000377340.2	-	11	1806	c.1775C>T	c.(1774-1776)gCc>gTc	p.A592V	CRNKL1_ENST00000377327.4_Missense_Mutation_p.A580V|CRNKL1_ENST00000536226.1_Missense_Mutation_p.A431V|CRNKL1_ENST00000521379.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	592	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				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						TGCTCTTCTGGCTAATGACAG	0.348																																																	0													122	121	121					20																	20021343		2203	4300	6503	SO:0001583	missense	0			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.1775C>T	20.37:g.20021343G>A	ENSP00000366557:p.Ala592Val		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.A592V	ENST00000377340.2	37	c.1775	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.240319	0.95240	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.44881	0.91;0.91;0.91	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);	0.197875	0.53938	N	0.000059	T	0.65450	0.2692	M	0.91406	3.205	0.80722	D	1	P	0.47677	0.899	P	0.49012	0.598	T	0.72221	-0.4356	10	0.62326	D	0.03	-6.7159	20.5568	0.99304	0.0:0.0:1.0:0.0	.	592	Q9BZJ0	CRNL1_HUMAN	V	580;592;431	ENSP00000366544:A580V;ENSP00000366557:A592V;ENSP00000440733:A431V	ENSP00000366544:A580V	A	-	2	0	CRNKL1	19969343	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GCC	CRNKL1	-	smart_HAT	ENSG00000101343		0.348	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	-	0	25	0	G			20021343	-1	tier1	-	no_errors	ENST00000377340	ensembl	human	known	74_37	missense	34.09	29	15	SNP	1.000	A	A	20021343	G	A	20021343	3	1	156	1	0	0	0	0	1	0	0	0	3898	1203	42	3	791	3	CRNKL1	20	20021343	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	1444650	20021343	43004177	185	39845											
C20orf26	26074	genome.wustl.edu	37	chr20	20180414	20180414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagattgctgtctttcagttCcagaacccctacgcccactc	8	12	6	15	1	2	2	1	0	1	2	4	2	3	2	4	0	3	2	4	0	3	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr20:20180414C>A	ENST00000245957.5	+	17	1876	c.1800C>A	c.(1798-1800)ttC>ttA	p.F600L	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		600								p.F600L(1)		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)		TCTTTCAGTTCCAGAACCCCT	0.473																																																	1	Substitution - Missense(1)	lung(1)											126	116	119					20																	20180414		2203	4300	6503	SO:0001583	missense	0																														ENST00000245957.5:c.1800C>A	20.37:g.20180414C>A	ENSP00000245957:p.Phe600Leu		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.F600L	ENST00000245957.5	37	c.1800	CCDS33447.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.760|6.760	0.509129|0.509129	0.12883|0.12883	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957|ENST00000431753	T|.	0.42513|.	0.97|.	5.57|5.57	0.772|0.772	0.18510|0.18510	.|.	0.322809|.	0.30356|.	N|.	0.009806|.	T|T	0.33000|0.33000	0.0848|0.0848	N|N	0.16201|0.16201	0.385|0.385	0.80722|0.80722	D|D	1|1	B;B|.	0.10296|.	0.003;0.001|.	B;B|.	0.11329|.	0.006;0.004|.	T|T	0.03993|0.03993	-1.0986|-1.0986	10|5	0.12430|.	T|.	0.62|.	.|.	6.2025|6.2025	0.20583|0.20583	0.0:0.4765:0.2586:0.2648|0.0:0.4765:0.2586:0.2648	.|.	580;600|.	F8W6K4;Q8NHU2|.	.;CT026_HUMAN|.	L|Y	540;168;580;600|140	ENSP00000245957:F600L|.	ENSP00000245957:F600L|.	F|S	+|+	3|2	2|0	C20orf26|C20orf26	20128414|20128414	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	0.269000|0.269000	0.18589|0.18589	0.278000|0.278000	0.22164|0.22164	0.563000|0.563000	0.77884|0.77884	TTC|TCC	C20orf26	-	NULL	ENSG00000089101		0.473	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3		0	58	0	C			20180414	1			no_errors	ENST00000245957	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.989	A	A	20180414	C	A	20180414	3	1	156	1	0	0	0	0	1	0	0	0	2113	854	30	3	1894	3	C20orf26	20	20180414	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	159071	20180414	42845106	186	39846											
SLC12A5	57468	genome.wustl.edu	37	chr20	44675020	44675020	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ttgtgaatctggcctgtgcaGtgcagacgctgctgaggaca	8	10	14	9	1	1	3	0	2	1	1	1	4	1	4	1	2	3	4	1	2	1	1			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr20:44675020G>A	ENST00000454036.2	+	14	1850	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	SLC12A5_ENST00000243964.3_Missense_Mutation_p.V578M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	601					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.V578L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCCTGTGCAGTGCAGACGCT	0.552																																																	1	Substitution - Missense(1)	lung(1)											129	110	116					20																	44675020		2203	4300	6503	SO:0001583	missense	0			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.1801G>A	20.37:g.44675020G>A	ENSP00000387694:p.Val601Met		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.V601M	ENST00000454036.2	37	c.1801	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848397	0.32699	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98717	-5.09;-5.09	4.45	3.5	0.40072	Amino acid permease domain (1);	0.260809	0.33005	N	0.005383	D	0.97829	0.9287	L	0.46819	1.47	0.80722	D	1	B;B	0.33857	0.429;0.142	P;B	0.45343	0.477;0.127	D	0.95997	0.8990	10	0.44086	T	0.13	.	15.3791	0.74637	0.0:0.0:0.8579:0.1421	.	601;578	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	M	601;578	ENSP00000387694:V601M;ENSP00000243964:V578M	ENSP00000243964:V578M	V	+	1	0	SLC12A5	44108427	0.998000	0.40836	0.349000	0.25694	0.139000	0.21198	2.966000	0.49208	0.518000	0.28383	-1.469000	0.01011	GTG	SLC12A5	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.552	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1		0	36	0	G			44675020	1			no_errors	ENST00000454036	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.952	A	A	44675020	G	A	44675020	3	1	156	1	0	0	0	0	1	0	0	0	14431	1029	36	3	1911	3	SLC12A5	20	44675020	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	24494606	44675020	18350500	187	39847											
NCOA5	57727	genome.wustl.edu	37	chr20	44699150	44699150	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatcacgccttgaatctcGactgtctccaaagccatatg	10	11	7	13	3	3	1	1	1	2	0	6	3	3	1	3	0	1	0	3	0	3	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr20:44699150G>T	ENST00000290231.6	-	3	228	c.64C>A	c.(64-66)Cga>Aga	p.R22R		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	22	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTTGAATCTCGACTGTCTCCA	0.502																																																	0													90	88	89					20																	44699150		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.64C>A	20.37:g.44699150G>T			B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Silent	SNP	superfamily_Anticodon-bd	p.R22	ENST00000290231.6	37	c.64	CCDS13392.1	20																																																																																			NCOA5	-	NULL	ENSG00000124160		0.502	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1	-	0	25	0	G	NM_020967		44699150	-1	tier1	-	no_errors	ENST00000290231	ensembl	human	known	74_37	silent	32.26	21	10	SNP	0.997	T	T	44699150	G	T	44699150	2	4	156	1	0	0	0	0	0	0	0	1	10271	1066	37	2		2	NCOA5	20	44699150	Silent	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	24130	44699150	18326370	188	39848											
CDH26	60437	genome.wustl.edu	37	chr20	58587688	58587688	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccctcagctctctggccaGcttggaacaggagttgcaac	9	9	10	13	0	2	0	1	0	1	0	4	2	3	2	2	3	5	4	2	3	2	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr20:58587688G>T	ENST00000244047.5	+	15	2483				CDH26_ENST00000350849.6_Missense_Mutation_p.S134I|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Missense_Mutation_p.S93I|CDH26_ENST00000348616.4_Missense_Mutation_p.S801I			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TCTCTGGCCAGCTTGGAACAG	0.522																																																	0													93	92	92					20																	58587688		2203	4300	6503	SO:0001627	intron_variant	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5846G>T	20.37:g.58587688G>T			A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S801I	ENST00000244047.5	37	c.2402		20	.	.	.	.	.	.	.	.	.	.	G	8.671	0.902769	0.17760	.	.	ENSG00000124215	ENST00000348616;ENST00000244049;ENST00000350849	T;T;T	0.80653	0.69;-1.4;-1.4	3.57	1.27	0.21489	.	.	.	.	.	T	0.63570	0.2522	.	.	.	0.19300	N	0.999974	B;B;B	0.15930	0.002;0.015;0.001	B;B;B	0.11329	0.005;0.006;0.003	T	0.44726	-0.9309	8	0.15499	T	0.54	.	8.1431	0.31095	0.0:0.0:0.4836:0.5164	.	93;134;801	Q8IXH8-5;Q8IXH8-2;Q8IXH8-4	.;.;.	I	801;93;134	ENSP00000339390:S801I;ENSP00000244049:S93I;ENSP00000310845:S134I	ENSP00000244049:S93I	S	+	2	0	CDH26	58021083	0.007000	0.16637	0.004000	0.12327	0.011000	0.07611	0.433000	0.21477	0.253000	0.21552	-0.535000	0.04281	AGC	CDH26	-	NULL	ENSG00000124215		0.522	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		-	0	62	0	G	NM_177980		58587688	1	tier1	-	no_errors	ENST00000348616	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.005	T	T	58587688	G	T	58587688	1	4	156	0	1	0	0	0	0	0	0	0	3117	971	34	3		3	CDH26	20	58587688	Intron	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09	13888538	58587688	4437832	189	39849											
OSBPL2	9885	genome.wustl.edu	37	chr20	60868922	60868922	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttgagcggaatttctcCgactgcccagatatctactg	9	13	8	11	2	2	2	0	1	2	1	3	4	2	3	2	1	4	0	2	1	4	5	rs201552246		TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr20:60868922C>A	ENST00000313733.3	+	14	1624	c.1422C>A	c.(1420-1422)tcC>tcA	p.S474S	OSBPL2_ENST00000471817.1_3'UTR|OSBPL2_ENST00000439951.2_Missense_Mutation_p.P341Q|OSBPL2_ENST00000358053.2_Silent_p.S462S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	474					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.S474S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGAATTTCTCCGACTGCCCAG	0.612																																																	1	Substitution - coding silent(1)	large_intestine(1)											54	51	52					20																	60868922		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"Oxysterol binding proteins"	15761	protein-coding gene	gene with protein product		606731	"oxysterol-binding protein-like 2"			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1422C>A	20.37:g.60868922C>A			A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	pfam_Oxysterol-bd	p.P341Q	ENST00000313733.3	37	c.1022	CCDS13495.1	20	.	.	.	.	.	.	.	.	.	.	C	1.752	-0.488949	0.04352	.	.	ENSG00000130703	ENST00000439951	T	0.54675	0.56	4.18	-8.37	0.00976	.	.	.	.	.	T	0.30665	0.0772	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18777	-1.0326	8	0.52906	T	0.07	-10.7496	1.4302	0.02332	0.1821:0.2935:0.1256:0.3988	.	341	E7ET92	.	Q	341	ENSP00000397602:P341Q	ENSP00000397602:P341Q	P	+	2	0	OSBPL2	60302317	0.000000	0.05858	0.250000	0.24296	0.553000	0.35397	-3.465000	0.00462	-3.569000	0.00139	-2.025000	0.00428	CCG	OSBPL2	-	NULL	ENSG00000130703		0.612	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL2	HGNC	protein_coding	OTTHUMT00000080021.1		0	48	0	C	NM_014835		60868922	1			no_errors	ENST00000439951	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.047	A	A	60868922	C	A	60868922	2	1	156	1	0	0	0	0	0	0	0	1	11317	639	23	2		2	OSBPL2	20	60868922	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	2281234	60868922	2156598	190	39850											
UMODL1	89766	genome.wustl.edu	37	chr21	43541293	43541293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtagctgcgagggaggagCccccgacttccctgtggaat	7	9	14	11	2	0	0	0	0	0	0	1	5	1	3	3	3	3	2	3	3	2	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr21:43541293C>T	ENST00000408910.2	+	16	2786	c.2786C>T	c.(2785-2787)gCc>gTc	p.A929V	UMODL1_ENST00000400424.2_Missense_Mutation_p.A857V|UMODL1_ENST00000400427.1_Missense_Mutation_p.A985V|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.A1057V	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	929	EGF-like 3; 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						GAGGGAGGAGCCCCCGACTTC	0.493																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													110	114	113					21																	43541293		1887	4102	5989	SO:0001583	missense	0				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.2786C>T	21.37:g.43541293C>T	ENSP00000386147:p.Ala929Val		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.A1057V	ENST00000408910.2	37	c.3170	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	C	8.489	0.861490	0.17178	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;T;D;T	0.81579	-1.51;-0.53;-1.51;-0.53	3.55	-0.789	0.10935	Epidermal growth factor-like, type 3 (1);	1.390610	0.05046	N	0.477327	T	0.64260	0.2582	N	0.14661	0.345	0.09310	N	1	B;P	0.42161	0.047;0.772	B;B	0.43123	0.025;0.409	T	0.55263	-0.8168	9	.	.	.	-1.6511	0.4162	0.00449	0.3303:0.2845:0.1749:0.2102	.	1057;929	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	V	985;857;1057;929	ENSP00000383279:A985V;ENSP00000383276:A857V;ENSP00000386126:A1057V;ENSP00000386147:A929V	.	A	+	2	0	UMODL1	42414362	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.074000	0.11450	-0.143000	0.11334	0.449000	0.29647	GCC	UMODL1	-	smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000177398		0.493	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	-	0	74	0	C			43541293	1	tier1	-	no_errors	ENST00000408989	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	T	T	43541293	C	T	43541293	3	4	156	1	0	0	0	0	1	0	0	0	17029	739	26	3	3228	3	UMODL1	21	43541293	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09		43541293	4588602	191	39851											
FOXRED2	80020	genome.wustl.edu	37	chr22	36902124	36902124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcggggaagtaggcacGcgagtagtgtctgaagagca	10	6	18	7	4	1	2	0	1	1	1	2	4	1	3	0	4	1	4	0	4	4	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr22:36902124G>T	ENST00000397224.4	-	2	439	c.346C>A	c.(346-348)Cgt>Agt	p.R116S	FOXRED2_ENST00000397223.4_Missense_Mutation_p.R116S|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R116S	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	116					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AAGTAGGCACGCGAGTAGTGT	0.642																																																	0													132	110	117					22																	36902124		2203	4300	6503	SO:0001583	missense	0			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.346C>A	22.37:g.36902124G>T	ENSP00000380401:p.Arg116Ser		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.R116S	ENST00000397224.4	37	c.346	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	G	9.793	1.178325	0.21787	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.21031	2.03;2.03;2.03	5.12	-7.57	0.01318	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	1.204930	0.05879	N	0.626185	T	0.16854	0.0405	L	0.60012	1.86	0.09310	N	1	B	0.15141	0.012	B	0.17979	0.02	T	0.40942	-0.9536	10	0.10377	T	0.69	-0.1412	10.2985	0.43637	0.0:0.2701:0.2992:0.4307	.	116	Q8IWF2	FXRD2_HUMAN	S	116	ENSP00000380401:R116S;ENSP00000216187:R116S;ENSP00000380400:R116S	ENSP00000216187:R116S	R	-	1	0	FOXRED2	35232070	0.000000	0.05858	0.000000	0.03702	0.736000	0.42039	-0.382000	0.07408	-0.820000	0.04318	0.561000	0.74099	CGT	FOXRED2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000100350		0.642	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	-	0	35	0	G	NM_024955		36902124	-1	tier1	-	no_errors	ENST00000216187	ensembl	human	known	74_37	missense	23.81	32	10	SNP	0.009	T	T	36902124	G	T	36902124	3	4	156	1	0	0	0	0	1	0	0	0	6058	1087	38	2	1740	2	FOXRED2	22	36902124	Missense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09		36902124	14402442	192	39852											
APOBEC3B	9582	genome.wustl.edu	37	chr22	39388094	39388094	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggatgtcccttccagccCtgggatggactagaggagca	9	7	14	11	0	0	1	0	0	0	1	2	5	2	5	3	4	2	1	3	4	1	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chr22:39388094C>A	ENST00000333467.3	+	7	1119	c.1074C>A	c.(1072-1074)ccC>ccA	p.P358P	APOBEC3B_ENST00000402182.3_Silent_p.P358P|APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000407298.3_Silent_p.P333P	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	358					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CCTTCCAGCCCTGGGATGGAC	0.612																																																	0													96	76	82					22																	39388094		2198	4282	6480	SO:0001819	synonymous_variant	0			AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.1074C>A	22.37:g.39388094C>A			B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.P358	ENST00000333467.3	37	c.1074	CCDS13982.1	22																																																																																			APOBEC3B	-	pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	ENSG00000179750		0.612	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3B	HGNC	protein_coding	OTTHUMT00000321233.1	-	0	49	0	C	NM_004900		39388094	1	tier1	-	no_errors	ENST00000333467	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.265	A	A	39388094	C	A	39388094	2	1	156	1	0	0	0	0	0	0	0	1	790	668	24	3		3	APOBEC3B	22	39388094	Silent	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	2485970	39388094	11916472	193	39853											
OGT	8473	genome.wustl.edu	37	chrX	70775170	70775170	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctacaggcgggctatcGaactacaaccacatttccct	12	8	6	15	2	0	0	0	0	0	0	2	1	1	0	3	2	4	1	3	2	5	4			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chrX:70775170G>T	ENST00000373719.3	+	7	1076	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	OGT_ENST00000373701.3_Nonsense_Mutation_p.E277*	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	287					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)					GCGGGCTATCGAACTACAACC	0.458																																																	0													109	86	94					X																	70775170		2203	4300	6503	SO:0001587	stop_gained	0			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.859G>T	X.37:g.70775170G>T	ENSP00000362824:p.Glu287*		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Nonsense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E287*	ENST00000373719.3	37	c.859	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	G	38	6.902447	0.97924	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-29.6243	17.5948	0.88009	0.0:0.0:1.0:0.0	.	.	.	.	X	287;277	.	ENSP00000362805:E277X	E	+	1	0	OGT	70691895	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.582000	0.98214	2.340000	0.79590	0.600000	0.82982	GAA	OGT	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000147162		0.458	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	-	0	35	0	G	NM_003605, NM_181672		70775170	1	tier1	-	no_errors	ENST00000373719	ensembl	human	known	74_37	nonsense	13.79	25	4	SNP	1.000	T	T	70775170	G	T	70775170	4	4	156	1	0	0	0	0	0	1	0	0	10886	1059	37	2	885	2	OGT	23	70775170	Nonsense_Mutation	SNP	G	TCGA-V5-A7RC-01B-11D-A403-09		70775170	84495390	194	39854											
ARHGAP36	158763	genome.wustl.edu	37	chrX	130217914	130217914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcggaatgagcccaccttgCcccgggagttcactcgccgt	6	7	13	15	4	1	1	1	1	0	0	2	3	1	3	5	3	2	1	5	3	1	2			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chrX:130217914C>G	ENST00000276211.5	+	4	871	c.526C>G	c.(526-528)Ccc>Gcc	p.P176A	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P40A|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P164A	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	176	Arg-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCCCACCTTGCCCCGGGAGTT	0.642																																																	0													31	31	31					X																	130217914		2203	4300	6503	SO:0001583	missense	0				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.526C>G	X.37:g.130217914C>G	ENSP00000276211:p.Pro176Ala		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P176A	ENST00000276211.5	37	c.526	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	10.86	1.471017	0.26423	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T	0.10668	2.85;2.85;2.87;2.92	4.24	3.37	0.38596	.	0.000000	0.48286	D	0.000187	T	0.15132	0.0365	N	0.17082	0.46	0.24809	N	0.992652	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.991	T	0.04065	-1.0980	10	0.44086	T	0.13	.	8.3677	0.32397	0.2336:0.7664:0.0:0.0	.	145;164;176	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	A	176;164;128;145;40	ENSP00000276211:P176A;ENSP00000359960:P164A;ENSP00000408515:P145A;ENSP00000359959:P40A	ENSP00000276211:P176A	P	+	1	0	ARHGAP36	130045595	1.000000	0.71417	0.776000	0.31678	0.067000	0.16453	2.954000	0.49113	1.116000	0.41820	-0.224000	0.12420	CCC	ARHGAP36	-	NULL	ENSG00000147256		0.642	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	-	0	61	0	C	NM_144967		130217914	1	tier1	-	no_errors	ENST00000276211	ensembl	human	known	74_37	missense	73.47	13	36	SNP	0.704	G	G	130217914	C	G	130217914	3	3	156	1	0	0	0	0	1	0	0	0	883	739	26	5	536	5	ARHGAP36	23	130217914	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	59442744	130217914	25052646	195	39855											
MAGEC1	9947	genome.wustl.edu	37	chrX	140994088	140994088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttttgagggttttcccCagtctcctctccagattcct	5	16	7	13	0	2	2	0	1	2	1	6	2	4	2	5	1	1	2	5	1	1	6			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chrX:140994088C>A	ENST00000285879.4	+	4	1184	c.898C>A	c.(898-900)Cag>Aag	p.Q300K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	300										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)					GGGTTTTCCCCAGTCTCCTCT	0.488										HNSCC(15;0.026)																																							0													125	117	120					X																	140994088		2199	4293	6492	SO:0001583	missense	0			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.898C>A	X.37:g.140994088C>A	ENSP00000285879:p.Gln300Lys		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.Q300K	ENST00000285879.4	37	c.898	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	1.012	-0.687548	0.03328	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.18657	3.91;2.2	.	.	.	.	.	.	.	.	T	0.09113	0.0225	N	0.08118	0	0.18873	N	0.999982	B	0.10296	0.003	B	0.04013	0.001	T	0.29518	-1.0009	8	0.87932	D	0	.	2.6709	0.05067	0.0:0.517:0.0:0.483	.	300	O60732	MAGC1_HUMAN	K	300;102;101	ENSP00000285879:Q300K;ENSP00000359542:Q102K	ENSP00000285879:Q300K	Q	+	1	0	MAGEC1	140821754	0.837000	0.29446	0.124000	0.21820	0.125000	0.20455	0.147000	0.16202	0.148000	0.19059	0.150000	0.16122	CAG	MAGEC1	-	NULL	ENSG00000155495		0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0	119	0	C	NM_005462		140994088	1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	55.64	59	74	SNP	0.265	A	A	140994088	C	A	140994088	3	1	156	1	0	0	0	0	1	0	0	0	9218	595	21	3	904	3	MAGEC1	23	140994088	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	10776174	140994088	14276472	196	39856											
SLITRK4	139065	genome.wustl.edu	37	chrX	142718626	142718626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagcccaagaaaggctcctCcctcaatgttctgcagttta	10	11	8	12	0	2	2	1	1	1	1	4	2	4	2	3	1	2	4	3	1	4	3			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chrX:142718626C>A	ENST00000381779.4	-	2	524	c.299G>T	c.(298-300)gGa>gTa	p.G100V	SLITRK4_ENST00000356928.1_Missense_Mutation_p.G100V|SLITRK4_ENST00000338017.4_Missense_Mutation_p.G100V	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	100						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)					AAAGGCTCCTCCCTCAATGTT	0.378																																																	0													63	61	62					X																	142718626		2203	4300	6503	SO:0001583	missense	0			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.299G>T	X.37:g.142718626C>A	ENSP00000371198:p.Gly100Val		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G100V	ENST00000381779.4	37	c.299	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	C	13.52	2.263088	0.39995	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.57595	0.39;0.39;0.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	N	0.12746	0.255	0.80722	D	1	B	0.22276	0.067	B	0.20955	0.032	T	0.14587	-1.0467	10	0.27785	T	0.31	-6.7835	17.0458	0.86502	0.0:1.0:0.0:0.0	.	100	Q8IW52	SLIK4_HUMAN	V	100	ENSP00000371198:G100V;ENSP00000349400:G100V;ENSP00000336627:G100V	ENSP00000336627:G100V	G	-	2	0	SLITRK4	142546292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.289000	0.51747	2.345000	0.79718	0.600000	0.82982	GGA	SLITRK4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000179542		0.378	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	-	0	41	0	C	NM_173078		142718626	-1	tier1	-	no_errors	ENST00000338017	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	A	A	142718626	C	A	142718626	3	1	156	1	0	0	0	0	1	0	0	0	14790	855	30	3	2218	3	SLITRK4	23	142718626	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	1724538	142718626	12551934	197	39857											
SLITRK2	84631	genome.wustl.edu	37	chrX	144905265	144905265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttgaagtgctgtacccttCtatgtttgatggactgcaga	8	14	10	9	0	1	3	0	2	1	1	1	4	1	4	2	1	3	4	2	1	3	5			TCGA-V5-A7RC-01B-11D-A403-09	TCGA-V5-A7RC-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b77ba28d-ff74-47a9-a811-7349c5b0214b	028aacf0-76b0-49a8-a1e8-d1d8205dd9f0	g.chrX:144905265C>G	ENST00000370490.1	+	1	5577	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C	SLITRK2_ENST00000434188.2_Missense_Mutation_p.S441C|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S441C|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S441C|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S441C			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	441					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)					CTGTACCCTTCTATGTTTGAT	0.393																																																	0													137	142	140					X																	144905265		2203	4300	6503	SO:0001583	missense	0			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.1322C>G	X.37:g.144905265C>G	ENSP00000359521:p.Ser441Cys		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S441C	ENST00000370490.1	37	c.1322	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170774	0.57584	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.49	5.49	0.81192	.	0.257041	0.40554	N	0.001070	T	0.67401	0.2889	L	0.49256	1.55	0.50313	D	0.999869	D	0.76494	0.999	D	0.77557	0.99	T	0.69312	-0.5178	10	0.62326	D	0.03	-2.4831	15.6062	0.76672	0.0:1.0:0.0:0.0	.	441	Q9H156	SLIK2_HUMAN	C	441	ENSP00000334374:S441C;ENSP00000411681:S441C;ENSP00000359521:S441C;ENSP00000397015:S441C;ENSP00000407347:S441C;ENSP00000412010:S441C	ENSP00000334374:S441C	S	+	2	0	SLITRK2	144712957	0.779000	0.28652	0.798000	0.32154	0.992000	0.81027	3.913000	0.56394	2.280000	0.76307	0.594000	0.82650	TCT	SLITRK2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000185985		0.393	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	-	0	43	0	C	NM_032539		144905265	1	tier1	-	no_errors	ENST00000370490	ensembl	human	known	74_37	missense	30.95	29	13	SNP	0.973	G	G	144905265	C	G	144905265	3	3	156	1	0	0	0	0	1	0	0	0	14788	913	32	5	1324	5	SLITRK2	23	144905265	Missense_Mutation	SNP	C	TCGA-V5-A7RC-01B-11D-A403-09	2186639	144905265	10365295	198	39858											
C1orf94	84970	genome.wustl.edu	37	chr1	34663156	34663156	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgtgccgccgaggtcaaGagcagcaaggggacagagga	11	4	17	9	2	1	2	1	0	0	2	1	5	1	4	2	4	3	2	2	4	2	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:34663156G>A	ENST00000488417.1	+	2	771	c.651G>A	c.(649-651)aaG>aaA	p.K217K	C1orf94_ENST00000373374.3_Silent_p.K27K	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	217										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCGAGGTCAAGAGCAGCAAGG	0.552																																																	0													85	75	78					1																	34663156		2203	4300	6503	SO:0001819	synonymous_variant	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.651G>A	1.37:g.34663156G>A			B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	NULL	p.K217	ENST00000488417.1	37	c.651	CCDS44108.1	1																																																																																			C1orf94	-	NULL	ENSG00000142698		0.552	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2		0	34	0	G	NM_032884		34663156	1			no_errors	ENST00000488417	ensembl	human	known	74_37	silent	23.53	13	4	SNP	0.773	A	A	34663156	G	A	34663156	2	1	157	1	0	0	0	0	0	0	0	1	2078	933	33	3		3	C1orf94	1	34663156	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09		34663156	214587465	1	39859											
MYCL1	4610	genome.wustl.edu	37	chr1	40363557	40363557	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcatgcagggatccaggggGtctgctcgcaccgtgatggt	6	10	15	10	2	2	1	1	1	1	0	4	2	3	2	2	4	2	3	2	4	0	1	rs544662303	byFrequency	TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:40363557G>A	ENST00000372816.2	-	2	1029	c.582C>T	c.(580-582)gaC>gaT	p.D194D	RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000397332.2_Silent_p.D224D			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	194						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GATCCAGGGGGTCTGCTCGCA	0.512																																																	0													98	100	99					1																	40363557		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"Basic helix-loop-helix proteins"	7555	protein-coding gene	gene with protein product	"l-myc protein", "myc-related gene from lung cancer", "oncogene lmyc"	164850	"v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.582C>T	1.37:g.40363557G>A			A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Silent	SNP	pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.D194	ENST00000372816.2	37	c.582	CCDS30682.1	1																																																																																			MYCL	-	pfam_Tscrpt_reg_Myc_N	ENSG00000116990		0.512	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYCL	HGNC	protein_coding	OTTHUMT00000277004.1	-	0	47	0	G	NM_001033082		40363557	-1	tier1	-	no_errors	ENST00000372816	ensembl	human	known	74_37	silent	26.42	39	14	SNP	1.000	A	A	40363557	G	A	40363557	2	1	157	1	0	0	0	0	0	0	0	1	10058	1252	44	3		3	MYCL1	1	40363557	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	5700401	40363557	208887064	2	39860											
LRP8	7804	genome.wustl.edu	37	chr1	53755344	53755344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcacaggtgaagtcactgtCtgcacaggtcttcttggctg	7	12	12	10	0	5	1	2	1	3	0	5	1	5	1	0	3	1	2	0	3	1	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:53755344C>G	ENST00000306052.6	-	3	363	c.262G>C	c.(262-264)Gac>Cac	p.D88H	LRP8_ENST00000371454.2_Missense_Mutation_p.D88H|RP4-784A16.2_ENST00000421637.1_RNA|LRP8_ENST00000347547.2_Missense_Mutation_p.D88H|LRP8_ENST00000354412.3_Missense_Mutation_p.D88H|LRP8_ENST00000465675.1_5'UTR|RP4-784A16.3_ENST00000450469.1_RNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	88	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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						AAGTCACTGTCTGCACAGGTC	0.607																																																	0													101	72	82					1																	53755344		2203	4300	6503	SO:0001583	missense	0			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.262G>C	1.37:g.53755344C>G	ENSP00000303634:p.Asp88His		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D88H	ENST00000306052.6	37	c.262	CCDS578.1	1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054734	0.55325	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000354412;ENST00000347547	D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72	5.33	5.33	0.75918	.	.	.	.	.	D	0.96244	0.8775	L	0.32530	0.975	0.22199	N	0.999295	D;P;D;P	0.60575	0.98;0.831;0.988;0.632	P;P;D;B	0.71414	0.804;0.712;0.973;0.443	D	0.91449	0.5180	9	0.62326	D	0.03	.	17.9523	0.89057	0.0:1.0:0.0:0.0	.	88;88;88;88	Q14114-2;Q14114-4;Q14114-3;Q14114	.;.;.;LRP8_HUMAN	H	88	ENSP00000303634:D88H;ENSP00000360509:D88H;ENSP00000346391:D88H;ENSP00000334522:D88H	ENSP00000303634:D88H	D	-	1	0	LRP8	53527932	0.923000	0.31300	0.946000	0.38457	0.426000	0.31534	2.060000	0.41394	2.778000	0.95560	0.655000	0.94253	GAC	LRP8	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt	ENSG00000157193		0.607	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	HGNC	protein_coding	OTTHUMT00000024699.1	-	0	27	0	C	NM_004631		53755344	-1	tier1	-	no_errors	ENST00000306052	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.987	G	G	53755344	C	G	53755344	3	3	157	1	0	0	0	0	1	0	0	0	8998	913	32	5	2697	5	LRP8	1	53755344	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	13391787	53755344	195495277	3	39861											
FNDC7	163479	genome.wustl.edu	37	chr1	109264971	109264971	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	atgtaggtcctcgggcccctGccaacattcaagtctctttc	7	12	8	14	1	2	0	1	0	1	0	6	0	3	0	4	2	2	1	4	2	3	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:109264971G>A	ENST00000370017.3	+	5	890	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	FNDC7_ENST00000271311.2_Missense_Mutation_p.A206T	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	205	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TCGGGCCCCTGCCAACATTCA	0.453																																																	0													41	36	38					1																	109264971		692	1591	2283	SO:0001583	missense	0				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.613G>A	1.37:g.109264971G>A	ENSP00000359034:p.Ala205Thr		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A206T	ENST00000370017.3	37	c.616	CCDS44185.1	1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985521	0.35036	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.53206	0.63;0.63	5.63	2.7	0.31948	.	0.747353	0.13521	N	0.381683	T	0.11580	0.0282	L	0.36672	1.1	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.32508	-0.9904	10	0.07813	T	0.8	-3.1834	5.7856	0.18331	0.1431:0.0:0.5662:0.2906	.	205	E9PAZ5	.	T	205;206	ENSP00000359034:A205T;ENSP00000271311:A206T	ENSP00000271311:A206T	A	+	1	0	FNDC7	109066494	0.983000	0.35010	0.952000	0.39060	0.985000	0.73830	1.513000	0.35823	0.706000	0.31912	0.455000	0.32223	GCC	FNDC7	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000143107		0.453	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	HGNC	protein_coding	OTTHUMT00000030589.4	-	0	104	0	G	NM_173532		109264971	1	tier1	-	no_errors	ENST00000271311	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.058	A	A	109264971	G	A	109264971	3	1	157	1	0	0	0	0	1	0	0	0	5995	1319	46	3	631	3	FNDC7	1	109264971	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	55509627	109264971	139985650	4	39862											
SLC16A1	6566	genome.wustl.edu	37	chr1	113471764	113471764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	aggatatccatgacacttcgCtggtggtggcatggaatata	11	11	12	7	1	0	1	0	1	0	0	2	3	1	3	1	5	0	2	1	5	4	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:113471764C>G	ENST00000538576.1	-	2	998	c.167G>C	c.(166-168)aGc>aCc	p.S56T	SLC16A1_ENST00000433570.4_Missense_Mutation_p.S56T|SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Missense_Mutation_p.S56T	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	56					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TGACACTTCGCTGGTGGTGGC	0.418																																																	0													68	61	64					1																	113471764		2203	4300	6503	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"Solute carriers"	10922	protein-coding gene	gene with protein product		600682	"solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.167G>C	1.37:g.113471764C>G	ENSP00000441065:p.Ser56Thr		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.S56T	ENST00000538576.1	37	c.167	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394935	0.83011	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	5.97	5.97	0.96955	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.972;0.998	P;D	0.67382	0.874;0.951	T	0.71203	-0.4662	10	0.56958	D	0.05	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	56;56	Q49A45;P53985	.;MOT1_HUMAN	T	56	ENSP00000358640:S56T;ENSP00000441065:S56T;ENSP00000416167:S56T;ENSP00000445061:S56T;ENSP00000399104:S56T;ENSP00000397106:S56T	ENSP00000358640:S56T	S	-	2	0	SLC16A1	113273287	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	7.776000	0.85560	2.835000	0.97688	0.591000	0.81541	AGC	SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.418	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	-	0	31	0	C	NM_003051		113471764	-1	tier1	-	no_errors	ENST00000369626	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	G	G	113471764	C	G	113471764	3	3	157	1	0	0	0	0	1	0	0	0	14447	797	28	5	1351	5	SLC16A1	1	113471764	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	4206793	113471764	135778857	5	39863											
SYCP1	6847	genome.wustl.edu	37	chr1	115430251	115430251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatatattttacaagattgGaaaaaaatgaagatcaattg	19	13	7	2	0	1	4	1	2	0	2	1	5	1	5	0	1	1	0	0	1	9	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:115430251G>A	ENST00000369522.3	+	15	1435	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E399K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	399					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)		TACAAGATTGGAAAAAAATGA	0.264																																																	0													36	40	38					1																	115430251		2180	4256	6436	SO:0001583	missense	0			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.1195G>A	1.37:g.115430251G>A	ENSP00000358535:p.Glu399Lys		O14963|Q5VXJ6	Missense_Mutation	SNP	pfam_SCP-1	p.E399K	ENST00000369522.3	37	c.1195	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498910	0.26861	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.56103	0.48;0.48;0.48	5.11	4.19	0.49359	.	0.239930	0.41823	D	0.000810	T	0.22475	0.0542	L	0.43923	1.385	0.37522	D	0.917591	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.06516	-1.0822	10	0.12766	T	0.61	-1.3561	8.553	0.33462	0.1021:0.0:0.8979:0.0	.	399;399	B7ZLS9;Q15431	.;SYCP1_HUMAN	K	399	ENSP00000358535:E399K;ENSP00000410011:E399K;ENSP00000358531:E399K	ENSP00000358531:E399K	E	+	1	0	SYCP1	115231774	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	0.867000	0.27968	2.375000	0.81037	0.650000	0.86243	GAA	SYCP1	-	pfam_SCP-1	ENSG00000198765		0.264	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1		0	113	0	G	NM_003176		115430251	1			no_errors	ENST00000369518	ensembl	human	known	74_37	missense	5.59	152	9	SNP	1.000	A	A	115430251	G	A	115430251	3	1	157	1	0	0	0	0	1	0	0	0	15478	1175	41	3	1249	3	SYCP1	1	115430251	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	1958487	115430251	133820370	6	39864											
IGSF3	3321	genome.wustl.edu	37	chr1	117156561	117156561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccccagcttgtccagccGcacctcccccaggctctgcc	4	7	7	23	1	1	0	0	0	1	0	4	0	4	0	9	1	3	3	9	1	0	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:117156561G>A	ENST00000369486.3	-	4	1423	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	IGSF3_ENST00000369483.1_Missense_Mutation_p.R220W|IGSF3_ENST00000318837.6_Missense_Mutation_p.R220W	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	220	Ig-like C2-type 2.				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)		TTGTCCAGCCGCACCTCCCCC	0.612																																																	0													34	35	35					1																	117156561		2202	4299	6501	SO:0001583	missense	0			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.658C>T	1.37:g.117156561G>A	ENSP00000358498:p.Arg220Trp		A6NJZ6|A6NMC7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R220W	ENST00000369486.3	37	c.658	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537991	0.65085	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.22945	1.93;1.93;1.93	4.77	4.77	0.60923	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.062472	0.64402	D	0.000008	T	0.39733	0.1089	M	0.76727	2.345	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.32481	-0.9905	10	0.87932	D	0	-49.6278	10.3864	0.44143	0.0:0.0:0.8047:0.1953	.	220;220	O75054;A6NJZ6	IGSF3_HUMAN;.	W	220	ENSP00000358498:R220W;ENSP00000358495:R220W;ENSP00000321184:R220W	ENSP00000321184:R220W	R	-	1	2	IGSF3	116958084	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.869000	0.56062	2.470000	0.83445	0.557000	0.71058	CGG	IGSF3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143061		0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	-	0	56	0	G	NM_001542		117156561	-1	tier1	-	no_errors	ENST00000318837	ensembl	human	known	74_37	missense	23.81	48	15	SNP	0.999	A	A	117156561	G	A	117156561	3	1	157	1	0	0	0	0	1	0	0	0	7628	1086	38	1	3022	1	IGSF3	1	117156561	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	1726310	117156561	132094060	7	39865											
TCHH	7062	genome.wustl.edu	37	chr1	152086555	152086556	+	Start_Codon_Ins	INS	-	-	T																															gcttctcagaagtggagacaINStttttttttctttccttcaa																								rs141946179	byFrequency	TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:152086555_152086556insT	ENST00000368804.1	-	0	0_1					NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin						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)			AAGTGGAGACATTTTTTTTTCT	0.361																																																	0																																										SO:0001582	initiator_codon_variant	0			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.2dupA	1.37:g.152086564_152086564dupT			Q5VUI3	Frame_Shift_Ins	INS	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.M1fs	ENST00000368804.1	37	c.2_1	CCDS41396.1	1																																																																																			TCHH	-	NULL	ENSG00000159450		0.361	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2		0	17	0	-	NM_007113		152086556	-1	tier1		no_errors	ENST00000368804	ensembl	human	known	74_37	frame_shift_ins	14.81	23	4	INS	1.000:1.000	T	T	152086556	-	T	152086555	7	5	157	1	0	1	1	0	0	0	0	0	15747	231	8	0	5837	0	TCHH	1	152086555	Start_Codon_Ins	INS	-	TCGA-V5-A7RE-01A-11D-A351-09	34929994	152086555	97164066	8	39866											
FLG	2312	genome.wustl.edu	37	chr1	152282266	152282266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacagatgaatcttgtctgCgcccagtgcctgagtctgtg	7	12	11	11	1	3	3	0	2	3	1	3	3	3	3	2	0	3	0	2	0	2	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:152282266C>T	ENST00000368799.1	-	3	5131	c.5096G>A	c.(5095-5097)cGc>cAc	p.R1699H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1699	Ser-rich.		R -> C (in dbSNP:rs12405278).		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)			ATCTTGTCTGCGCCCAGTGCC	0.572									Ichthyosis																																								0													253	256	255					1																	152282266		2203	4300	6503	SO:0001583	missense	0	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.5096G>A	1.37:g.152282266C>T	ENSP00000357789:p.Arg1699His		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.R1699H	ENST00000368799.1	37	c.5096	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	5.271	0.235356	0.10023	.	.	ENSG00000143631	ENST00000368799	T	0.03951	3.75	2.69	-1.42	0.08913	.	.	.	.	.	T	0.00875	0.0029	N	0.17082	0.46	0.09310	N	1	B	0.24882	0.113	B	0.15484	0.013	T	0.45920	-0.9228	9	0.44086	T	0.13	.	5.9351	0.19161	0.0:0.485:0.0:0.515	.	1699	P20930	FILA_HUMAN	H	1699	ENSP00000357789:R1699H	ENSP00000357789:R1699H	R	-	2	0	FLG	150548890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.335000	0.07873	-0.429000	0.07329	0.306000	0.20318	CGC	FLG	-	pfam_Filaggrin	ENSG00000143631		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	102	0	C	NM_002016		152282266	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	14.29	102	17	SNP	0.000	T	T	152282266	C	T	152282266	3	4	157	1	0	0	0	0	1	0	0	0	5944	768	27	1	7093	1	FLG	1	152282266	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	195711	152282266	96968355	9	39867											
ATP8B2	57198	genome.wustl.edu	37	chr1	154316625	154316625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtggtattttcagctgctgGgtgcaacggccattgaggac	7	12	14	8	1	1	1	1	1	0	0	1	2	1	2	1	4	4	4	1	4	2	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:154316625G>T	ENST00000368489.3	+	19	2029	c.2029G>T	c.(2029-2031)Ggt>Tgt	p.G677C		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	663					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)			TCAGCTGCTGGGTGCAACGGC	0.552																																																	0													74	71	72					1																	154316625		2203	4300	6503	SO:0001583	missense	0			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.2029G>T	1.37:g.154316625G>T	ENSP00000357475:p.Gly677Cys		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G677C	ENST00000368489.3	37	c.2029	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422819	0.62733	.	.	ENSG00000143515	ENST00000368489	D	0.85411	-1.98	5.38	5.38	0.77491	.	0.062041	0.64402	D	0.000006	D	0.93598	0.7956	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94291	0.7528	10	0.87932	D	0	.	17.8785	0.88833	0.0:0.0:1.0:0.0	.	677	P98198-3	.	C	677	ENSP00000357475:G677C	ENSP00000357475:G677C	G	+	1	0	ATP8B2	152583249	1.000000	0.71417	0.995000	0.50966	0.034000	0.12701	9.657000	0.98554	2.791000	0.96007	0.650000	0.86243	GGT	ATP8B2	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000143515		0.552	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2		0	24	0	G	NM_020452		154316625	1			no_errors	ENST00000368489	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	154316625	G	T	154316625	3	4	157	1	0	0	0	0	1	0	0	0	1196	1232	43	3	2233	3	ATP8B2	1	154316625	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	2034359	154316625	94933996	10	39868											
OR10J5	127385	genome.wustl.edu	37	chr1	159505593	159505593	+	Missense_Mutation	SNP	A	A	G	1	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	cagtgtgtacaccgtctctgAactagccagcatgcttagga	10	10	10	11	1	1	1	0	1	1	0	2	2	1	2	2	1	5	3	2	1	4	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:159505593A>G	ENST00000334857.2	-	1	249	c.205T>C	c.(205-207)Tca>Cca	p.S69P		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	69						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)					ACCGTCTCTGAACTAGCCAGC	0.433																																																	0													170	137	148					1																	159505593		2203	4300	6503	SO:0001583	missense	0				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.205T>C	1.37:g.159505593A>G	ENSP00000334441:p.Ser69Pro		B9EH35|Q6IFH2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S69P	ENST00000334857.2	37	c.205	CCDS30910.1	1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.300509	0.23650	.	.	ENSG00000184155	ENST00000334857	T	0.03004	4.08	4.31	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07638	0.0192	M	0.84082	2.675	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20706	-1.0267	9	0.49607	T	0.09	.	5.8136	0.18479	0.7874:0.0:0.2126:0.0	.	69	Q8NHC4	O10J5_HUMAN	P	69	ENSP00000334441:S69P	ENSP00000334441:S69P	S	-	1	0	OR10J5	157772217	0.000000	0.05858	0.047000	0.18901	0.203000	0.24098	-1.056000	0.03489	0.786000	0.33708	0.377000	0.23210	TCA	OR10J5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184155		0.433	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1	-	0	48	0	A	NM_001004469		159505593	-1	tier1	-	no_errors	ENST00000334857	ensembl	human	known	74_37	missense	55.56	24	30	SNP	0.001	G	G	159505593	A	G	159505593	3	3	157	1	0	0	0	0	1	0	0	0	10951	246	9	4	726	4	OR10J5	1	159505593	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	5188968	159505593	89745028	11	39869											
ZBTB37	84614	genome.wustl.edu	37	chr1	173840126	173840126	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatctggaggagtggcttGggcctgagaatcagccttct	10	10	13	8	0	3	1	1	1	2	1	3	4	3	3	2	4	1	1	2	4	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:173840126G>C	ENST00000367701.5	+	2	954	c.763G>C	c.(763-765)Ggg>Cgg	p.G255R	ZBTB37_ENST00000432989.1_Missense_Mutation_p.G255R|ZBTB37_ENST00000367702.1_Missense_Mutation_p.G255R|ZBTB37_ENST00000367704.1_Missense_Mutation_p.G255R|ZBTB37_ENST00000427304.1_Missense_Mutation_p.G255R			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GGAGTGGCTTGGGCCTGAGAA	0.507																																																	0													76	79	78					1																	173840126		2203	4300	6503	SO:0001583	missense	0			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.763G>C	1.37:g.173840126G>C	ENSP00000356674:p.Gly255Arg		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G255R	ENST00000367701.5	37	c.763	CCDS44278.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290384	0.80914	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	D;T;D;D;T	0.87809	-2.24;2.58;-2.3;-2.3;2.58	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.87317	0.6147	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.952	T	0.82350	-0.0501	10	0.15952	T	0.53	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	255;255	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	R	255;255;255;255;163;255	ENSP00000356677:G255R;ENSP00000415293:G255R;ENSP00000409408:G255R;ENSP00000356675:G255R;ENSP00000356674:G255R	ENSP00000356674:G255R	G	+	1	0	ZBTB37	172106749	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.500000	0.81588	2.861000	0.98227	0.655000	0.94253	GGG	ZBTB37	-	NULL	ENSG00000185278		0.507	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	-	0	36	0	G	NM_032522		173840126	1	tier1	-	no_errors	ENST00000367701	ensembl	human	known	74_37	missense	37.78	28	17	SNP	1.000	C	C	173840126	G	C	173840126	3	2	157	1	0	0	0	0	1	0	0	0	17586	1348	47	5	765	5	ZBTB37	1	173840126	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	14334533	173840126	75410495	12	39870											
DHX9	1660	genome.wustl.edu	37	chr1	182856565	182856565	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaagaggaggtggcggctAttaaaacttggttatgtcag	11	10	16	4	1	1	1	1	0	0	1	1	3	1	3	0	6	1	2	0	6	5	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:182856565A>T	ENST00000367549.3	+	28	3919	c.3809A>T	c.(3808-3810)tAt>tTt	p.Y1270F	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1270				FGQGRGGGGY -> LDIEEEVAAIKLGYVSSVCRQ (in Ref. 1; AAB48855). {ECO:0000305}.	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						GGTGGCGGCTATTAAAACTTG	0.478																																					Colon(69;210 1162 3697 13559 39565)												0													50	57	55					1																	182856565		1905	4118	6023	SO:0001583	missense	0			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.3809A>T	1.37:g.182856565A>T	ENSP00000356520:p.Tyr1270Phe		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom	p.Y1270F	ENST00000367549.3	37	c.3809	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	A	4.068	0.010467	0.07912	.	.	ENSG00000135829	ENST00000367549	T	0.03553	3.89	4.52	0.247	0.15521	.	0.840669	0.10510	N	0.666256	T	0.02083	0.0065	N	0.08118	0	0.22266	N	0.99924	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44982	-0.9292	10	0.87932	D	0	.	4.757	0.13090	0.3384:0.0:0.1093:0.5523	.	549;1270	B3KU66;Q08211	.;DHX9_HUMAN	F	1270	ENSP00000356520:Y1270F	ENSP00000356520:Y1270F	Y	+	2	0	DHX9	181123188	1.000000	0.71417	0.991000	0.47740	0.123000	0.20343	0.840000	0.27600	0.158000	0.19367	0.459000	0.35465	TAT	DHX9	-	NULL	ENSG00000135829		0.478	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	-	0	24	0	A	NM_030588		182856565	1	tier1	-	no_errors	ENST00000367549	ensembl	human	known	74_37	missense	58.70	19	27	SNP	0.993	T	T	182856565	A	T	182856565	3	4	157	1	0	0	0	0	1	0	0	0	4530	449	16	5	3915	5	DHX9	1	182856565	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	9016439	182856565	66394056	13	39871											
IVNS1ABP	10625	genome.wustl.edu	37	chr1	185269606	185269606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatcgggctcttggtgttCtcatgggagcaagaaaggac	11	9	14	7	1	2	1	1	0	2	1	4	4	2	3	0	4	1	3	0	4	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:185269606C>T	ENST00000367498.3	-	11	1827	c.1205G>A	c.(1204-1206)aGa>aAa	p.R402K	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.R184K|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	402					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TCTTGGTGTTCTCATGGGAGC	0.423																																																	0													127	131	130					1																	185269606		2203	4300	6503	SO:0001583	missense	0			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1205G>A	1.37:g.185269606C>T	ENSP00000356468:p.Arg402Lys		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R402K	ENST00000367498.3	37	c.1205	CCDS1368.1	1	.	.	.	.	.	.	.	.	.	.	c	9.516	1.107033	0.20714	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.66099	-0.19;-0.19	5.76	4.86	0.63082	Galactose oxidase, beta-propeller (1);	0.097545	0.64402	D	0.000003	T	0.41789	0.1174	N	0.11756	0.17	0.45056	D	0.998072	B;B;B	0.19200	0.034;0.003;0.007	B;B;B	0.18561	0.022;0.003;0.022	T	0.26503	-1.0101	10	0.31617	T	0.26	.	9.7775	0.40628	0.1414:0.7897:0.0:0.069	.	184;103;402	A8MVR0;Q6MZF3;Q9Y6Y0	.;.;NS1BP_HUMAN	K	402;184	ENSP00000356468:R402K;ENSP00000375864:R184K	ENSP00000356468:R402K	R	-	2	0	IVNS1ABP	183536229	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.859000	0.62954	1.442000	0.47568	-0.121000	0.15023	AGA	IVNS1ABP	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000116679		0.423	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVNS1ABP	HGNC	protein_coding	OTTHUMT00000085774.1	-	0	64	0	C	NM_006469		185269606	-1	tier1	-	no_errors	ENST00000367498	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	185269606	C	T	185269606	3	4	157	1	0	0	0	0	1	0	0	0	7957	913	32	3	743	3	IVNS1ABP	1	185269606	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	2413041	185269606	63981015	14	39872											
DENND1B	163486	genome.wustl.edu	37	chr1	197522116	197522116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaagaaaattgttattGagaaaatggataatcatatt	19	12	7	3	0	1	3	1	1	0	3	1	5	1	4	1	1	0	1	1	1	8	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:197522116G>T	ENST00000367396.3	-	16	1445	c.1276C>A	c.(1276-1278)Caa>Aaa	p.Q426K	DENND1B_ENST00000400967.2_Missense_Mutation_p.Q396K|DENND1B_ENST00000235453.4_Missense_Mutation_p.Q396K	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	426					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AATTGTTATTGAGAAAATGGA	0.318																																																	0													105	103	103					1																	197522116		1823	4088	5911	SO:0001583	missense	0			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"DENN/MADD domain containing"	28404	protein-coding gene	gene with protein product		613292	"family with sequence similarity 31, member B", "chromosome 1 open reading frame 218"	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.1276C>A	1.37:g.197522116G>T	ENSP00000356366:p.Gln426Lys		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.Q426K	ENST00000367396.3	37	c.1276	CCDS41452.2	1	.	.	.	.	.	.	.	.	.	.	G	8.028	0.761079	0.15914	.	.	ENSG00000213047	ENST00000235453;ENST00000367396;ENST00000400967	T;T;T	0.10960	3.16;2.82;3.16	4.91	-2.54	0.06307	.	.	.	.	.	T	0.03564	0.0102	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	0.45264	-0.9273	9	0.13853	T	0.58	.	1.6054	0.02683	0.15:0.196:0.1541:0.4999	.	426;396	Q6P3S1;Q6P3S1-4	DEN1B_HUMAN;.	K	396;426;396	ENSP00000235453:Q396K;ENSP00000356366:Q426K;ENSP00000383751:Q396K	ENSP00000235453:Q396K	Q	-	1	0	DENND1B	195788739	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.381000	0.07417	-0.271000	0.09272	-2.361000	0.00239	CAA	DENND1B	-	NULL	ENSG00000213047		0.318	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1B	HGNC	protein_coding	OTTHUMT00000086539.1		0	22	0	G	NM_144977		197522116	-1			no_errors	ENST00000367396	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.000	T	T	197522116	G	T	197522116	3	4	157	1	0	0	0	0	1	0	0	0	4441	1299	45	3	1124	3	DENND1B	1	197522116	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	12252510	197522116	51728505	15	39873											
SLC45A3	85414	genome.wustl.edu	37	chr1	205632390	205632390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcaatggcaggcaggaGgtagcccaggcagcccccaa	11	3	13	14	0	1	0	1	0	0	0	1	1	1	1	4	5	2	4	4	5	3	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:205632390G>T	ENST00000367145.3	-	3	824	c.529C>A	c.(529-531)Ctc>Atc	p.L177I	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	177					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)			GCAGGCAGGAGGTAGCCCAGG	0.637			T	"ETV1, ETV5, ELK4, ERG"	prostate																																			Dom	yes		1	1q32	85414	"solute carrier family 45, member 3"		E	0													29	29	29					1																	205632390		2202	4299	6501	SO:0001583	missense	0			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.529C>A	1.37:g.205632390G>T	ENSP00000356113:p.Leu177Ile		A8K2U9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L177I	ENST00000367145.3	37	c.529	CCDS1458.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307005	0.81247	.	.	ENSG00000158715	ENST00000367145	D	0.92249	-3.0	5.5	5.5	0.81552	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.94873	0.8343	L	0.54908	1.71	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.92785	0.6243	10	0.26408	T	0.33	-2.136	19.3614	0.94440	0.0:0.0:1.0:0.0	.	177;177	A8K2U9;Q96JT2	.;S45A3_HUMAN	I	177	ENSP00000356113:L177I	ENSP00000356113:L177I	L	-	1	0	SLC45A3	203899013	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.475000	0.73582	2.735000	0.93741	0.655000	0.94253	CTC	SLC45A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000158715		0.637	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A3	HGNC	protein_coding	OTTHUMT00000090619.1		0	42	0	G	NM_033102		205632390	-1			no_errors	ENST00000367145	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	205632390	G	T	205632390	3	4	157	1	0	0	0	0	1	0	0	0	14687	1000	35	3	1144	3	SLC45A3	1	205632390	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	8110274	205632390	43618231	16	39874											
RCOR3	55758	genome.wustl.edu	37	chr1	211486260	211486260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggggaggagacaaaaagtgCttctaatgtgccatcaggga	14	7	14	6	0	2	1	1	0	1	1	2	4	2	3	1	4	2	1	1	4	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:211486260C>T	ENST00000367005.4	+	10	1241	c.1100C>T	c.(1099-1101)gCt>gTt	p.A367V	RCOR3_ENST00000419091.2_Missense_Mutation_p.A425V|RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000452621.2_Missense_Mutation_p.A425V|RCOR3_ENST00000367006.4_Intron	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	367					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)		ACAAAAAGTGCTTCTAATGTG	0.443																																																	0													141	134	137					1																	211486260		2203	4300	6503	SO:0001583	missense	0			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.1100C>T	1.37:g.211486260C>T	ENSP00000355972:p.Ala367Val		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.A367V	ENST00000367005.4	37	c.1100	CCDS31016.1	1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814577	0.32053	.	.	ENSG00000117625	ENST00000452621;ENST00000419091;ENST00000367005	T;T;T	0.46451	0.87;2.16;2.16	5.11	4.2	0.49525	.	0.271358	0.40385	N	0.001119	T	0.29423	0.0733	N	0.19112	0.55	0.27446	N	0.95357	B;B;B	0.16802	0.009;0.012;0.019	B;B;B	0.22601	0.005;0.04;0.013	T	0.18398	-1.0338	10	0.38643	T	0.18	-9.4594	12.7368	0.57230	0.0:0.9201:0.0:0.0799	.	425;367;425	Q9P2K3-3;Q9P2K3;Q9P2K3-4	.;RCOR3_HUMAN;.	V	425;425;367	ENSP00000398558:A425V;ENSP00000413929:A425V;ENSP00000355972:A367V	ENSP00000355972:A367V	A	+	2	0	RCOR3	209552883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.665000	0.68052	1.278000	0.44430	0.650000	0.86243	GCT	RCOR3	-	NULL	ENSG00000117625		0.443	RCOR3-001	KNOWN	basic|CCDS	protein_coding	RCOR3	HGNC	protein_coding	OTTHUMT00000089821.1	-	0	59	0	C	NM_018254		211486260	1	tier1	-	no_errors	ENST00000367005	ensembl	human	known	74_37	missense	54.12	39	46	SNP	1.000	T	T	211486260	C	T	211486260	3	4	157	1	0	0	0	0	1	0	0	0	13229	797	28	3	1316	3	RCOR3	1	211486260	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	5853870	211486260	37764361	17	39875											
FLVCR1	28982	genome.wustl.edu	37	chr1	213032241	213032241	+	Silent	SNP	G	G	A	0	0	1	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	ttgctgcacatcgactggctGtccatggtgtacatgctggc	6	12	12	11	1	0	0	0	0	0	0	2	1	1	0	1	3	4	5	1	3	1	2	rs371271294		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:213032241G>A	ENST00000366971.4	+	1	645	c.447G>A	c.(445-447)ctG>ctA	p.L149L	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	149					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)		TCGACTGGCTGTCCATGGTGT	0.612																																					Esophageal Squamous(199;2235 2952 19233 26256)												0								G		1,4405	2.1+/-5.4	0,1,2202	112	85	94		447	3.7	1	1		94	0,8600		0,0,4300	no	coding-synonymous	FLVCR1	NM_014053.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		149/556	213032241	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.447G>A	1.37:g.213032241G>A			Q1HE16|Q86XY9|Q9NVR9	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L149	ENST00000366971.4	37	c.447	CCDS1510.1	1																																																																																			FLVCR1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000162769		0.612	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR1	HGNC	protein_coding	OTTHUMT00000089678.2	-	0	14	0	G	NM_014053		213032241	1	tier1	-	no_errors	ENST00000366971	ensembl	human	known	74_37	silent	32.00	17	8	SNP	1.000	A	A	213032241	G	A	213032241	2	1	157	1	0	0	0	0	0	0	0	1	5967	1364	48	3		3	FLVCR1	1	213032241	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	1545981	213032241	36218380	18	39876											
NID1	4811	genome.wustl.edu	37	chr1	236175225	236175225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccaccaccttacctccGggcacgcaacggaagccgtc	8	6	9	18	4	0	0	0	0	0	0	3	1	2	1	6	2	3	2	6	2	3	1	rs371961637		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:236175225G>A	ENST00000264187.6	-	12	2605	c.2523C>T	c.(2521-2523)ccC>ccT	p.P841P	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	841					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CCTTACCTCCGGGCACGCAAC	0.572																																																	0								G		0,4406		0,0,2203	135	108	118		2523	-3.4	1	1		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NID1	NM_002508.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		841/1248	236175225	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2523C>T	1.37:g.236175225G>A			Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.P841	ENST00000264187.6	37	c.2523	CCDS1608.1	1																																																																																			NID1	-	superfamily_Thyroglobulin_1	ENSG00000116962		0.572	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2		0	38	0	G	NM_002508		236175225	-1			no_errors	ENST00000264187	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.997	A	A	236175225	G	A	236175225	2	1	157	1	0	0	0	0	0	0	0	1	10453	1103	39	1		1	NID1	1	236175225	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	23142984	236175225	13075396	19	39877											
AHCTF1	25909	genome.wustl.edu	37	chr1	247013637	247013637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttaccgtactaacttttaGatcatttataatttcaacac	13	17	3	8	1	2	1	2	0	0	1	2	1	2	1	1	0	4	2	1	0	7	9			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr1:247013637G>A	ENST00000391829.2	-	33	5794	c.5671C>T	c.(5671-5673)Cta>Tta	p.L1891L	AHCTF1_ENST00000366508.1_Silent_p.L1926L|AHCTF1_ENST00000326225.3_Silent_p.L1900L|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1891	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTAACTTTTAGATCATTTATA	0.294																																					Colon(145;197 1800 4745 15099 26333)												0													49	53	52					1																	247013637		2193	4288	6481	SO:0001819	synonymous_variant	0				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.5671C>T	1.37:g.247013637G>A			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.L1900	ENST00000391829.2	37	c.5698		1																																																																																			AHCTF1	-	NULL	ENSG00000153207		0.294	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		-	0	45	0	G	NM_015446		247013637	-1	tier1	-	no_errors	ENST00000326225	ensembl	human	known	74_37	silent	34.38	42	22	SNP	0.001	A	A	247013637	G	A	247013637	2	1	157	1	0	0	0	0	0	0	0	1	408	933	33	3		3	AHCTF1	1	247013637	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	10838412	247013637	2236984	20	39878											
PXDN	7837	genome.wustl.edu	37	chr2	1683968	1683968	+	Missense_Mutation	SNP	A	A	G	1	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	cgtgtcgggccactcaccacAgttcagctcttccggggtga	6	9	12	14	3	3	1	2	1	1	0	5	1	4	1	3	3	1	2	3	3	0	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:1683968A>G	ENST00000252804.4	-	7	777	c.727T>C	c.(727-729)Tgt>Cgt	p.C243R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	243	LRRCT.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACTCACCACAGTTCAGCTCT	0.582																																																	0													43	45	44					2																	1683968		2186	4274	6460	SO:0001583	missense	0			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.727T>C	2.37:g.1683968A>G	ENSP00000252804:p.Cys243Arg		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.C243R	ENST00000252804.4	37	c.727	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	17.34|17.34	3.364586|3.364586	0.61513|0.61513	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804;ENST00000425171|ENST00000447941	T;T|.	0.78003|.	0.53;-1.14|.	4.64|4.64	4.64|4.64	0.57946|0.57946	Cysteine-rich flanking region, C-terminal (1);|.	0.656995|.	0.11496|.	U|.	0.558176|.	D|D	0.86385|0.86385	0.5920|0.5920	H|H	0.95574|0.95574	3.69|3.69	0.80722|0.80722	D|D	1|1	P;P|.	0.44627|.	0.839;0.742|.	P;P|.	0.54401|.	0.751;0.486|.	D|D	0.90488|0.90488	0.4465|0.4465	10|5	0.72032|.	D|.	0.01|.	.|.	14.1244|14.1244	0.65210|0.65210	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	243;243|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	R|P	243;219|166	ENSP00000252804:C243R;ENSP00000398363:C219R|.	ENSP00000252804:C243R|.	C|L	-|-	1|2	0|0	PXDN|PXDN	1662975|1662975	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.520000|0.520000	0.34377|0.34377	9.199000|9.199000	0.95003|0.95003	1.737000|1.737000	0.51674|0.51674	0.364000|0.364000	0.22116|0.22116	TGT|CTG	PXDN	-	smart_Cys-rich_flank_reg_C	ENSG00000130508		0.582	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1		0	8	0	A	XM_056455		1683968	-1			no_errors	ENST00000252804	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	G	G	1683968	A	G	1683968	3	3	157	1	0	0	0	0	1	0	0	0	12892	188	7	4	3780	4	PXDN	2	1683968	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09		1683968	241515405	21	39879											
SOX11	6664	genome.wustl.edu	37	chr2	5834126	5834126	+	Missense_Mutation	SNP	A	A	C	1	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	cgccggagctgagcgagatgAtcgcgggggactggctggag	7	5	20	9	5	0	3	0	2	0	1	1	7	0	6	1	5	2	2	1	5	0	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:5834126A>C	ENST00000322002.3	+	1	1328	c.1273A>C	c.(1273-1275)Atc>Ctc	p.I425L	AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	425					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GAGCGAGATGATCGCGGGGGA	0.612																																																	0													9	7	8					2																	5834126		2028	3957	5985	SO:0001583	missense	0				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.1273A>C	2.37:g.5834126A>C	ENSP00000322568:p.Ile425Leu		Q4ZFV8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.I425L	ENST00000322002.3	37	c.1273	CCDS1654.1	2	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212985	0.58452	.	.	ENSG00000176887	ENST00000322002	D	0.99194	-5.54	5.36	4.17	0.49024	.	0.000000	0.64402	U	0.000002	D	0.97971	0.9332	M	0.78285	2.405	0.53688	D	0.999978	P	0.42692	0.787	B	0.40199	0.322	D	0.96357	0.9263	10	0.49607	T	0.09	.	11.4767	0.50302	0.8651:0.0:0.0:0.1349	.	425	P35716	SOX11_HUMAN	L	425	ENSP00000322568:I425L	ENSP00000322568:I425L	I	+	1	0	SOX11	5751577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.980000	0.93460	0.830000	0.34757	0.459000	0.35465	ATC	SOX11	-	pirsf_SOX-12/11/4a	ENSG00000176887		0.612	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1	-	0	59	0	A	NM_003108		5834126	1	tier1	-	no_errors	ENST00000322002	ensembl	human	known	74_37	missense	11.27	63	8	SNP	1.000	C	C	5834126	A	C	5834126	3	2	157	1	0	0	0	0	1	0	0	0	14987	333	12	4	1275	4	SOX11	2	5834126	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	4150158	5834126	237365247	22	39880											
ASAP2	8853	genome.wustl.edu	37	chr2	9474924	9474924	+	Silent	SNP	G	G	A	0	0	1	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	aaaccttccattgaaacgctGtctacggatcttcacacggt	11	11	7	12	3	3	1	1	1	2	0	4	2	4	2	2	2	3	1	2	2	3	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:9474924G>A	ENST00000281419.3	+	8	1084	c.744G>A	c.(742-744)ctG>ctA	p.L248L	ASAP2_ENST00000315273.4_Silent_p.L248L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	248					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						TTGAAACGCTGTCTACGGATC	0.413																																																	0													118	101	107					2																	9474924		2203	4300	6503	SO:0001819	synonymous_variant	0			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.744G>A	2.37:g.9474924G>A			D6W4Y8	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.L248	ENST00000281419.3	37	c.744	CCDS1661.1	2																																																																																			ASAP2	-	NULL	ENSG00000151693		0.413	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1	-	0	36	0	G	NM_003887		9474924	1	tier1	-	no_errors	ENST00000281419	ensembl	human	known	74_37	silent	17.50	33	7	SNP	0.877	A	A	9474924	G	A	9474924	2	1	157	1	0	0	0	0	0	0	0	1	1012	1364	48	3		3	ASAP2	2	9474924	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	3640798	9474924	233724449	23	39881											
PSME4	23198	genome.wustl.edu	37	chr2	54128624	54128624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcgctggccacgtctgtaCaatacagtcccaatcatgaa	13	9	7	12	2	2	1	1	1	1	0	4	1	3	1	2	1	2	2	2	1	6	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:54128624C>T	ENST00000404125.1	-	28	3203	c.3148G>A	c.(3148-3150)Gta>Ata	p.V1050I	PSME4_ENST00000421748.2_Missense_Mutation_p.V194I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1050					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CACGTCTGTACAATACAGTCC	0.418																																																	0													143	137	139					2																	54128624		2203	4300	6503	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3148G>A	2.37:g.54128624C>T	ENSP00000384211:p.Val1050Ile		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.V1050I	ENST00000404125.1	37	c.3148	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	C	16.18	3.048848	0.55110	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.22336	1.97;1.96	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.171581	0.51477	D	0.000096	T	0.17323	0.0416	N	0.22421	0.69	0.33968	D	0.646478	B;B;B	0.28850	0.225;0.095;0.073	B;B;B	0.23574	0.047;0.032;0.03	T	0.10314	-1.0635	10	0.36615	T	0.2	-21.4061	19.6148	0.95629	0.0:1.0:0.0:0.0	.	425;194;1050	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	I	194;1050	ENSP00000410830:V194I;ENSP00000384211:V1050I	ENSP00000384211:V1050I	V	-	1	0	PSME4	53982128	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.294000	0.51787	2.634000	0.89283	0.557000	0.71058	GTA	PSME4	-	superfamily_ARM-type_fold	ENSG00000068878		0.418	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	-	0	46	0	C	XM_040158		54128624	-1	tier1	-	no_errors	ENST00000404125	ensembl	human	known	74_37	missense	28.57	30	12	SNP	1.000	T	T	54128624	C	T	54128624	3	4	157	1	0	0	0	0	1	0	0	0	12751	478	17	3	2459	3	PSME4	2	54128624	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	44653700	54128624	189070749	24	39882											
C2orf65	130951	genome.wustl.edu	37	chr2	74789417	74789417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggcagcatcagttccCgcgtggccaccgcctttacc	5	9	11	16	3	1	0	1	0	0	0	2	0	2	0	5	2	3	4	5	2	1	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:74789417C>T	ENST00000290536.5	-	8	1324	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q	M1AP_ENST00000358434.2_Intron|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.R403Q|M1AP_ENST00000409585.1_Missense_Mutation_p.R403Q	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	403					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)		p.R403Q(1)									CATCAGTTCCCGCGTGGCCAC	0.587																																																	1	Substitution - Missense(1)	endometrium(1)											201	170	181					2																	74789417		2203	4300	6503	SO:0001583	missense	0				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.1208G>A	2.37:g.74789417C>T	ENSP00000290536:p.Arg403Gln		B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	NULL	p.R403Q	ENST00000290536.5	37	c.1208	CCDS33229.1	2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443470	0.83993	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	T;T;T	0.51325	0.71;0.71;0.71	5.41	5.41	0.78517	.	0.129832	0.49305	D	0.000143	T	0.56920	0.2018	L	0.59436	1.845	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.991	P;P;P	0.54174	0.744;0.744;0.69	T	0.57189	-0.7854	10	0.46703	T	0.11	-13.6368	14.7033	0.69171	0.0:1.0:0.0:0.0	.	403;403;159	E9PGG8;Q8TC57;B3KX03	.;CB065_HUMAN;.	Q	403	ENSP00000290536:R403Q;ENSP00000386793:R403Q;ENSP00000445662:R403Q	ENSP00000290536:R403Q	R	-	2	0	C2orf65	74642925	1.000000	0.71417	0.940000	0.37924	0.484000	0.33280	5.514000	0.67043	2.535000	0.85469	0.655000	0.94253	CGG	M1AP	-	NULL	ENSG00000159374		0.587	M1AP-001	KNOWN	basic|CCDS	protein_coding	M1AP	HGNC	protein_coding	OTTHUMT00000328569.1	-	0	21	0	C	NM_138804		74789417	-1	tier1	-	no_errors	ENST00000290536	ensembl	human	known	74_37	missense	21.95	32	9	SNP	0.966	T	T	74789417	C	T	74789417	3	4	157	1	0	0	0	0	1	0	0	0	2191	652	23	1	400	1	C2orf65	2	74789417	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	20660793	74789417	168409956	25	39883											
RPIA	22934	genome.wustl.edu	37	chr2	89028849	89028849	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagtgatctggatcgacaCccagaggtaagattgccact	11	9	10	11	1	2	3	1	1	1	2	3	5	2	4	2	2	1	1	2	2	1	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:89028849C>T	ENST00000283646.4	+	4	511	c.456C>T	c.(454-456)caC>caT	p.H152H		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	152					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)				TGGATCGACACCCAGAGGTAA	0.498																																																	0													91	93	92					2																	89028849		1987	4165	6152	SO:0001819	synonymous_variant	0			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.456C>T	2.37:g.89028849C>T			Q541P9|Q96BJ6	Silent	SNP	pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA	p.H152	ENST00000283646.4	37	c.456	CCDS2004.2	2																																																																																			RPIA	-	pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA	ENSG00000153574		0.498	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPIA	HGNC	protein_coding	OTTHUMT00000252683.2	-	0	31	0	C			89028849	1	tier1	-	no_errors	ENST00000283646	ensembl	human	known	74_37	silent	25.71	26	9	SNP	1.000	T	T	89028849	C	T	89028849	2	4	157	1	0	0	0	0	0	0	0	1	13598	506	18	3		3	RPIA	2	89028849	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	14239432	89028849	154170524	26	39884											
FAM178B	51252	genome.wustl.edu	37	chr2	97637859	97637859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cctcgggttgaggaattccaCgggcggggggctccagtcag	6	7	17	11	3	1	1	1	1	0	0	4	2	3	2	3	6	0	2	3	6	1	2	rs533483443	byFrequency	TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:97637859C>T	ENST00000417561.3	-	7	786	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	FAM178B_ENST00000490605.2_Missense_Mutation_p.V115M|FAM178B_ENST00000327896.3_Missense_Mutation_p.V83M			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	263										large_intestine(1)|ovary(1)	2						AGGAATTCCACGGGCGGGGGG	0.687																																																	0													4	7	6					2																	97637859		679	1564	2243	SO:0001583	missense	0			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.787G>A	2.37:g.97637859C>T	ENSP00000413245:p.Val263Met		A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Missense_Mutation	SNP	NULL	p.V263M	ENST00000417561.3	37	c.787		2	.	.	.	.	.	.	.	.	.	.	C	9.041	0.989769	0.18966	.	.	ENSG00000168754	ENST00000417561;ENST00000327896;ENST00000490605	T;T;T	0.59906	0.23;0.29;0.27	4.04	-1.14	0.09741	.	.	.	.	.	T	0.43634	0.1256	N	0.24115	0.695	0.09310	N	1	.	.	.	.	.	.	T	0.42732	-0.9434	7	0.59425	D	0.04	-0.7855	7.5193	0.27618	0.0:0.4206:0.0:0.5794	.	.	.	.	M	263;83;115	ENSP00000413245:V263M;ENSP00000333553:V83M;ENSP00000429896:V115M	ENSP00000333553:V83M	V	-	1	0	FAM178B	97001586	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.819000	0.04462	-0.237000	0.09739	-0.345000	0.07892	GTG	FAM178B	-	NULL	ENSG00000168754		0.687	FAM178B-202	KNOWN	basic	protein_coding	FAM178B	HGNC	protein_coding		-	0	47	0	C	NM_016490		97637859	-1	tier1	-	no_errors	ENST00000417561	ensembl	human	known	74_37	missense	10.71	50	6	SNP	0.007	T	T	97637859	C	T	97637859	3	4	157	1	0	0	0	0	1	0	0	0	5523	536	19	1	1787	1	FAM178B	2	97637859	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	8609010	97637859	145561514	27	39885											
RGPD4	285190	genome.wustl.edu	37	chr2	108476268	108476268	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggccttcaacctgctctGcttgtacattgggcaaaatg	9	12	9	11	0	2	0	1	0	1	0	2	0	2	0	2	2	4	4	2	2	4	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:108476268G>A	ENST00000408999.3	+	12	1802	c.1725G>A	c.(1723-1725)ctG>ctA	p.L575L	RGPD4_ENST00000354986.4_Silent_p.L575L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	575					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AACCTGCTCTGCTTGTACATT	0.323																																																	0													7	8	8					2																	108476268		663	1545	2208	SO:0001819	synonymous_variant	0			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.1725G>A	2.37:g.108476268G>A			B9A029	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L575	ENST00000408999.3	37	c.1725	CCDS46381.1	2																																																																																			RGPD4	-	NULL	ENSG00000196862		0.323	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	-	0	317	0	G	XM_496581		108476268	1	tier1	-	no_errors	ENST00000354986	ensembl	human	known	74_37	silent	46.11	263	225	SNP	0.982	A	A	108476268	G	A	108476268	2	1	157	1	0	0	0	0	0	0	0	1	13333	1306	46	3		3	RGPD4	2	108476268	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	10838409	108476268	134723105	28	39886											
ERCC3	2071	genome.wustl.edu	37	chr2	128038201	128038201	+	Missense_Mutation	SNP	A	A	T	1	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	tggtgagcacccttcggaacAtcttggctgaggaaacaatg	11	9	12	9	1	1	2	0	2	1	0	2	4	1	4	1	4	3	2	1	4	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:128038201A>T	ENST00000285398.2	-	9	1443	c.1349T>A	c.(1348-1350)aTg>aAg	p.M450K	ERCC3_ENST00000493187.2_Missense_Mutation_p.M386K	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	450	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|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)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCTTCGGAACATCTTGGCTGA	0.403			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"		E	0													61	57	58					2																	128038201		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1349T>A	2.37:g.128038201A>T	ENSP00000285398:p.Met450Lys		Q53QM0	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3	p.M450K	ENST00000285398.2	37	c.1349	CCDS2144.1	2	.	.	.	.	.	.	.	.	.	.	a	15.88	2.964910	0.53507	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.31769	1.48;1.48	5.72	5.72	0.89469	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.35542	1.07	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.03077	-1.1075	10	0.59425	D	0.04	-35.294	16.0197	0.80472	1.0:0.0:0.0:0.0	.	450	P19447	ERCC3_HUMAN	K	450;386	ENSP00000285398:M450K;ENSP00000444796:M386K	ENSP00000285398:M450K	M	-	2	0	ERCC3	127754671	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	9.328000	0.96403	2.177000	0.69029	0.524000	0.50904	ATG	ERCC3	-	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3	ENSG00000163161		0.403	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC3	HGNC	protein_coding	OTTHUMT00000331028.1	-	0	39	0	A	NM_000122		128038201	-1	tier1	-	no_errors	ENST00000285398	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	T	T	128038201	A	T	128038201	3	4	157	1	0	0	0	0	1	0	0	0	5230	217	8	5	1027	5	ERCC3	2	128038201	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	19561933	128038201	115161172	29	39887											
NEB	4703	genome.wustl.edu	37	chr2	152531850	152531850	+	Missense_Mutation	SNP	T	T	C	0	1	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	cctggagaaactgaggaagaTcaggactcatggtgtattta	13	10	12	6	0	2	3	2	1	0	2	2	6	2	5	1	4	1	1	1	4	4	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:152531850T>C	ENST00000172853.10	-	35	3977	c.3830A>G	c.(3829-3831)gAt>gGt	p.D1277G	NEB_ENST00000427231.2_Missense_Mutation_p.D1277G|NEB_ENST00000603639.1_Missense_Mutation_p.D1277G|NEB_ENST00000409198.1_Missense_Mutation_p.D1277G|NEB_ENST00000397345.3_Missense_Mutation_p.D1277G|NEB_ENST00000604864.1_Missense_Mutation_p.D1277G			P20929	NEBU_HUMAN	nebulin	1277					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)		CTGAGGAAGATCAGGACTCAT	0.368																																																	0													183	186	185					2																	152531850		1893	4113	6006	SO:0001583	missense	0			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.3830A>G	2.37:g.152531850T>C	ENSP00000172853:p.Asp1277Gly		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.D1277G	ENST00000172853.10	37	c.3830		2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207323	0.79240	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.80314	0.4600	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80049	-0.1545	10	0.38643	T	0.18	.	13.5283	0.61607	0.0:0.0:0.0:1.0	.	1277	P20929	NEBU_HUMAN	G	1277	ENSP00000386259:D1277G;ENSP00000380505:D1277G;ENSP00000416578:D1277G;ENSP00000172853:D1277G	ENSP00000172853:D1277G	D	-	2	0	NEB	152240096	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.285000	0.58989	2.080000	0.62538	0.528000	0.53228	GAT	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.368	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	38	0	T	NM_004543		152531850	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	C	C	152531850	T	C	152531850	3	2	157	1	0	0	0	0	1	0	0	0	10341	1435	50	4	22448	4	NEB	2	152531850	Missense_Mutation	SNP	T	TCGA-V5-A7RE-01A-11D-A351-09	24493649	152531850	90667523	30	39888											
GALNT13	114805	genome.wustl.edu	37	chr2	155099226	155099226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tacagattttctcaagttgaCattagagaattacgtgaaaa	16	13	7	5	1	1	4	1	2	1	2	2	5	1	4	0	0	2	1	0	0	7	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:155099226C>T	ENST00000392825.3	+	6	1061	c.494C>T	c.(493-495)aCa>aTa	p.T165I	GALNT13_ENST00000409237.1_Missense_Mutation_p.T165I	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	165	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)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTCAAGTTGACATTAGAGAAT	0.338																																																	0													27	29	28					2																	155099226		2202	4299	6501	SO:0001583	missense	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.494C>T	2.37:g.155099226C>T	ENSP00000376570:p.Thr165Ile		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.T165I	ENST00000392825.3	37	c.494	CCDS2199.1	2	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761491	0.49468	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.54675	0.56;0.56	5.98	5.98	0.97165	Glycosyl transferase, family 2 (1);	0.353837	0.34178	N	0.004193	T	0.30262	0.0759	N	0.01209	-0.955	0.34480	D	0.703788	B;B	0.06786	0.001;0.0	B;B	0.16722	0.016;0.01	T	0.36625	-0.9740	10	0.45353	T	0.12	.	19.4247	0.94737	0.0:1.0:0.0:0.0	.	165;165	Q08ER7;Q8IUC8	.;GLT13_HUMAN	I	165	ENSP00000376570:T165I;ENSP00000387239:T165I	ENSP00000376570:T165I	T	+	2	0	GALNT13	154807472	0.375000	0.25089	1.000000	0.80357	0.986000	0.74619	3.957000	0.56730	2.843000	0.97960	0.585000	0.79938	ACA	GALNT13	-	pfam_Glyco_trans_2	ENSG00000144278		0.338	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	-	0	92	0	C	NM_052917		155099226	1	tier1	-	no_errors	ENST00000409237	ensembl	human	known	74_37	missense	12.84	95	14	SNP	1.000	T	T	155099226	C	T	155099226	3	4	157	1	0	0	0	0	1	0	0	0	6236	478	17	3	508	3	GALNT13	2	155099226	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	2567376	155099226	88100147	31	39889											
SCN3A	6328	genome.wustl.edu	37	chr2	165986604	165986604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtcgttcatgtgccacCgtgggagcgtacagtcatca	10	9	12	10	3	3	1	3	0	0	1	4	2	3	2	2	1	3	2	2	1	2	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:165986604C>T	ENST00000360093.3	-	17	3259	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.R874Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.R923Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	923					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)	CATGTGCCACCGTGGGAGCGT	0.512																																																	0													162	155	158					2																	165986604		2202	4281	6483	SO:0001583	missense	0			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.2768G>A	2.37:g.165986604C>T	ENSP00000353206:p.Arg923Gln		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R923Q	ENST00000360093.3	37	c.2768		2	.	.	.	.	.	.	.	.	.	.	C	35	5.416951	0.96092	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.64402	D	0.000013	D	0.99149	0.9706	M	0.88031	2.925	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.998;0.998;1.0	D;D;D;D;D	0.97110	1.0;0.992;0.986;0.986;1.0	D	0.99577	1.0972	10	0.87932	D	0	.	19.6755	0.95930	0.0:1.0:0.0:0.0	.	923;874;874;874;923	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Q	923;923;874;874	ENSP00000353206:R923Q;ENSP00000283254:R923Q;ENSP00000386726:R874Q;ENSP00000403348:R874Q	ENSP00000283254:R923Q	R	-	2	0	SCN3A	165694850	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.776000	0.85560	2.652000	0.90054	0.563000	0.77884	CGG	SCN3A	-	pfam_Ion_trans_dom	ENSG00000153253		0.512	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		-	0	80	0	C	NM_006922		165986604	-1	tier1	-	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	41.59	66	47	SNP	1.000	T	T	165986604	C	T	165986604	3	4	157	1	0	0	0	0	1	0	0	0	13963	652	23	1	3282	1	SCN3A	2	165986604	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	10887378	165986604	77212769	32	39890											
SCN3A	6328	genome.wustl.edu	37	chr2	166019171	166019171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaggaagtggtgttggtttCaaaagcagaatcgcttgggg	10	11	16	4	1	1	1	1	0	0	1	2	2	1	2	0	5	1	5	0	5	5	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:166019171C>G	ENST00000360093.3	-	8	1353	c.862G>C	c.(862-864)Gaa>Caa	p.E288Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.E288Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E288Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	288					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)	GTGTTGGTTTCAAAAGCAGAA	0.428																																																	0													111	111	111					2																	166019171		2203	4300	6503	SO:0001583	missense	0			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.862G>C	2.37:g.166019171C>G	ENSP00000353206:p.Glu288Gln		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E288Q	ENST00000360093.3	37	c.862		2	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370199	0.42003	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96041	-3.88;-3.89;-3.85;-3.72	5.82	5.82	0.92795	Ion transport (1);	0.325158	0.26571	N	0.023631	D	0.96917	0.8993	L	0.46741	1.465	0.80722	D	1	D;B;B;B;D	0.62365	0.991;0.0;0.0;0.0;0.989	D;B;B;B;D	0.74023	0.982;0.003;0.002;0.002;0.979	D	0.97163	0.9839	10	0.72032	D	0.01	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	288;288;288;288;288	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Q	288	ENSP00000353206:E288Q;ENSP00000283254:E288Q;ENSP00000386726:E288Q;ENSP00000403348:E288Q	ENSP00000283254:E288Q	E	-	1	0	SCN3A	165727417	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.480000	0.45206	2.752000	0.94435	0.655000	0.94253	GAA	SCN3A	-	pfam_Ion_trans_dom	ENSG00000153253		0.428	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		-	0	56	0	C	NM_006922		166019171	-1	tier1	-	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	18.84	56	13	SNP	1.000	G	G	166019171	C	G	166019171	3	3	157	1	0	0	0	0	1	0	0	0	13963	835	29	5	5224	5	SCN3A	2	166019171	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	32567	166019171	77180202	33	39891											
XIRP2	129446	genome.wustl.edu	37	chr2	168099201	168099201	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatagtgatcacagtgtCacttcctcaactctggcaca	12	11	7	11	0	4	2	3	1	1	1	5	2	5	2	1	1	1	1	1	1	3	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:168099201C>A	ENST00000409195.1	+	9	1388	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V211V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V433V|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	258					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						ATCACAGTGTCACTTCCTCAA	0.433																																																	0													102	93	96					2																	168099201		1960	4154	6114	SO:0001819	synonymous_variant	0			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.1299C>A	2.37:g.168099201C>A			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.V433	ENST00000409195.1	37	c.1299	CCDS42769.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.433	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	52	0	C	NM_152381		168099201	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	13.33	52	8	SNP	0.020	A	A	168099201	C	A	168099201	2	1	157	1	0	0	0	0	0	0	0	1	17479	813	29	3		3	XIRP2	2	168099201	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	2080030	168099201	75100172	34	39892											
LRP2	4036	genome.wustl.edu	37	chr2	170042241	170042241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaatttctcaaatagtaaCggttgctaaaaatgagatag	17	13	7	4	1	1	1	1	1	1	1	2	2	1	1	0	1	2	3	0	1	9	7	rs148251117	byFrequency	TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:170042241C>T	ENST00000263816.3	-	50	9902	c.9617G>A	c.(9616-9618)cGt>cAt	p.R3206H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3206					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)"	CAAATAGTAACGGTTGCTAAA	0.428																																																	0								C	HIS/ARG	0,4406		0,0,2203	162	166	165		9617	6	1	2	dbSNP_134	165	6,8594	5.0+/-18.6	0,6,4294	yes	missense	LRP2	NM_004525.2	29	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	probably-damaging	3206/4656	170042241	6,13000	2203	4300	6503	SO:0001583	missense	0				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.9617G>A	2.37:g.170042241C>T	ENSP00000263816:p.Arg3206His		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R3206H	ENST00000263816.3	37	c.9617	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.444125	0.96187	0.0	6.98E-4	ENSG00000081479	ENST00000263816	D	0.91631	-2.88	5.97	5.97	0.96955	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96297	0.9218	10	0.62326	D	0.03	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	3206	P98164	LRP2_HUMAN	H	3206	ENSP00000263816:R3206H	ENSP00000263816:R3206H	R	-	2	0	LRP2	169750487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.045000	0.71020	2.836000	0.97738	0.655000	0.94253	CGT	LRP2	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000081479		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	21	0	C	NM_004525		170042241	-1	tier1	rs148251117	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	30.00	35	15	SNP	1.000	T	T	170042241	C	T	170042241	3	4	157	1	0	0	0	0	1	0	0	0	8991	536	19	1	4470	1	LRP2	2	170042241	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	1943040	170042241	73157132	35	39893											
SSFA2	6744	genome.wustl.edu	37	chr2	182767078	182767078	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	cagtgagctggaaaatagcaGtgagctgaaaagtgtccata	15	8	12	6	0	0	3	0	3	0	0	1	4	1	4	1	1	3	3	1	1	6	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:182767078G>A	ENST00000431877.2	+	8	1477	c.1298G>A	c.(1297-1299)aGt>aAt	p.S433N	SSFA2_ENST00000409001.1_Missense_Mutation_p.S433N|SSFA2_ENST00000320370.7_Missense_Mutation_p.S433N|SSFA2_ENST00000428267.2_Missense_Mutation_p.S280N	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	433						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)			GAAAATAGCAGTGAGCTGAAA	0.408																																																	0													94	100	98					2																	182767078		2201	4300	6501	SO:0001583	missense	0			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.1298G>A	2.37:g.182767078G>A	ENSP00000388731:p.Ser433Asn		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.S433N	ENST00000431877.2	37	c.1298	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	G	6.475	0.455780	0.12283	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.15256	2.67;2.44;2.67;2.67	5.6	0.477	0.16784	.	1.037480	0.07473	N	0.902539	T	0.07638	0.0192	N	0.13043	0.29	0.09310	N	0.999999	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.002;0.002;0.002	T	0.41270	-0.9518	10	0.12103	T	0.63	1.396	1.5126	0.02499	0.1887:0.2506:0.3498:0.2109	.	280;433;433;433	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	N	433;433;433;280	ENSP00000388731:S433N;ENSP00000314669:S433N;ENSP00000387319:S433N;ENSP00000409867:S280N	ENSP00000314669:S433N	S	+	2	0	SSFA2	182475323	0.000000	0.05858	0.077000	0.20336	0.726000	0.41606	-0.112000	0.10791	-0.124000	0.11724	-0.136000	0.14681	AGT	SSFA2	-	NULL	ENSG00000138434		0.408	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	-	0	52	0	G	NM_006751		182767078	1	tier1	-	no_errors	ENST00000431877	ensembl	human	known	74_37	missense	11.29	55	7	SNP	0.043	A	A	182767078	G	A	182767078	3	1	157	1	0	0	0	0	1	0	0	0	15230	1029	36	3	1328	3	SSFA2	2	182767078	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	12724837	182767078	60432295	36	39894											
SGOL2	151246	genome.wustl.edu	37	chr2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T																															catggcctaaaaaaaggtaaINStttttttttcaaaacccaag																										TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1938)aattttfs	p.NF645fs		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)	645					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						AAAAAAGGTAATTTTTTTTTCA	0.337																																																	0																																										SO:0001589	frameshift_variant	0			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.1943dupT	2.37:g.201437012_201437012dupT	ENSP00000350447:p.Asn645fs		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Ins	INS	NULL	p.F649fs	ENST00000357799.4	37	c.1934_1935	CCDS42796.1	2																																																																																			SGOL2	-	NULL	ENSG00000163535		0.337	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1		0	85	0	0	NM_152524		201437004	1			no_errors	ENST00000357799	ensembl	human	known	74_37	frame_shift_ins	6.61	113	8	INS	0.021:0.016	T	T	201437004	-	T	201437003	7	5	157	1	0	1	1	0	0	0	0	0	14262	101	4	0	1956	0	SGOL2	2	201437003	Frame_Shift_Ins	INS	-	TCGA-V5-A7RE-01A-11D-A351-09	18669925	201437003	41762370	37	39895											
ZDBF2	57683	genome.wustl.edu	37	chr2	207171385	207171385	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctgagttctgattctccGgcttctctttatcattcagc	5	18	6	12	1	6	2	2	2	4	0	9	2	6	2	1	1	1	2	1	1	1	6	rs373918151		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:207171385G>T	ENST00000374423.3	+	5	2519	c.2133G>T	c.(2131-2133)ccG>ccT	p.P711P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	711							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						CTGATTCTCCGGCTTCTCTTT	0.403																																																	0													70	70	70					2																	207171385		1846	4104	5950	SO:0001819	synonymous_variant	0			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.2133G>T	2.37:g.207171385G>T			Q6ZNP7|Q6ZSN8	Silent	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.P711	ENST00000374423.3	37	c.2133	CCDS46501.1	2																																																																																			ZDBF2	-	NULL	ENSG00000204186		0.403	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1		0	26	0	G	NM_020923		207171385	1			no_errors	ENST00000374423	ensembl	human	known	74_37	silent	10.00	27	3	SNP	0.000	T	T	207171385	G	T	207171385	2	4	157	1	0	0	0	0	0	0	0	1	17647	1103	39	2		2	ZDBF2	2	207171385	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	5734382	207171385	36027988	38	39896											
CUL3	8452	genome.wustl.edu	37	chr2	225371635	225371635	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacaagagctttaccttgCtccctcaaataggaactcat	14	10	6	11	0	2	1	2	0	0	1	3	3	3	2	2	1	5	2	2	1	6	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:225371635C>T	ENST00000264414.4	-	7	1307	c.969G>A	c.(967-969)gaG>gaA	p.E323E	CUL3_ENST00000409777.1_Silent_p.E299E|CUL3_ENST00000409096.1_Silent_p.E299E|CUL3_ENST00000344951.4_Silent_p.E257E	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	323					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)		CTTTACCTTGCTCCCTCAAAT	0.378																																																	0													99	92	94					2																	225371635		2203	4300	6503	SO:0001819	synonymous_variant	0			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.969G>A	2.37:g.225371635C>T			A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E323	ENST00000264414.4	37	c.969	CCDS2462.1	2																																																																																			CUL3	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000036257		0.378	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	-	0	43	0	C			225371635	-1	tier1	-	no_errors	ENST00000264414	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.998	T	T	225371635	C	T	225371635	2	4	157	1	0	0	0	0	0	0	0	1	4065	796	28	3		3	CUL3	2	225371635	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	18200250	225371635	17827738	39	39897											
PID1	55022	genome.wustl.edu	37	chr2	229890416	229890416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgtggatccgcccgtCgctcttcatactgtggaaag	6	12	12	11	3	2	0	1	0	1	0	4	2	3	2	2	2	2	3	2	2	2	3	rs375488219		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:229890416C>A	ENST00000354069.6	-	3	715	c.685G>T	c.(685-687)Gac>Tac	p.D229Y	PID1_ENST00000409462.1_Missense_Mutation_p.D147Y|PID1_ENST00000392055.3_Missense_Mutation_p.D196Y|PID1_ENST00000482518.2_Intron|PID1_ENST00000392054.3_Missense_Mutation_p.D227Y			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	229	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)		ATCCGCCCGTCGCTCTTCATA	0.562																																																	0													101	96	98					2																	229890416		2203	4300	6503	SO:0001583	missense	0			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.685G>T	2.37:g.229890416C>A	ENSP00000283937:p.Asp229Tyr		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.D229Y	ENST00000354069.6	37	c.685		2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557232	0.86231	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.96	5.96	0.96718	.	0.043912	0.85682	D	0.000000	T	0.75436	0.3849	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	0.998;0.993;1.0;0.999	D;P;D;D	0.74348	0.937;0.895;0.98;0.983	T	0.71553	-0.4558	8	.	.	.	-47.9026	19.3963	0.94608	0.0:1.0:0.0:0.0	.	147;196;227;229	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	Y	227;147;196;229;229	.	.	D	-	1	0	PID1	229598660	1.000000	0.71417	0.669000	0.29828	0.973000	0.67179	7.397000	0.79903	2.814000	0.96858	0.655000	0.94253	GAC	PID1	-	smart_PTB/PI_dom	ENSG00000153823		0.562	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	-	0	23	0	C	NM_017933		229890416	-1	tier1	-	no_errors	ENST00000354069	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	A	A	229890416	C	A	229890416	3	1	157	1	0	0	0	0	1	0	0	0	11921	884	31	2	71	2	PID1	2	229890416	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	4518781	229890416	13308957	40	39898											
GBX2	2637	genome.wustl.edu	37	chr2	237076427	237076429	+	In_Frame_Del	DEL	GGC	GGC	-																															gcgcggcctggggcagcgcgGgcggcggcggcggcggcggc																								rs557135639|rs559648034	byFrequency	TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr2:237076427_237076429delGGC	ENST00000306318.4	-	1	583_585	c.186_188delGCC	c.(184-189)ccgccc>ccc	p.62_63PP>P	AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_In_Frame_Del_p.62_63PP>P|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'Flank	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	62	Poly-Pro.				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)		GGGCAGCGCGggcggcggcggcg	0.754																																																	0																																										SO:0001651	inframe_deletion	0			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.186_188delGCC	2.37:g.237076436_237076438delGGC	ENSP00000302251:p.Pro63del		B2RPH7|O43833|Q53RX5|Q9Y5Y1	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P63in_frame_del	ENST00000306318.4	37	c.188_186	CCDS2515.1	2																																																																																			GBX2	-	NULL	ENSG00000168505		0.754	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBX2	HGNC	protein_coding	OTTHUMT00000257078.3		0	12	0	GGC	NM_001485		237076429	-1	tier1		no_errors	ENST00000306318	ensembl	human	known	74_37	in_frame_del	37.50	5	3	DEL	1.000:1.000:0.973	-	-	237076429	GGC	-	237076427	7	5	157	1	0	1	0	1	0	0	0	0	6306	1232	43	0	866	0	GBX2	2	237076427	In_Frame_Del	DEL	GGC	TCGA-V5-A7RE-01A-11D-A351-09	7186011	237076427	6122946	41	39899											
SETD5	55209	genome.wustl.edu	37	chr3	9490247	9490247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactacattcgctttggctCaccctttatccctgagagac	9	12	6	14	1	1	2	1	1	0	1	3	3	2	2	2	1	1	2	2	1	2	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:9490247C>T	ENST00000406341.1	+	15	2469	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L	SETD5_ENST00000407969.1_Missense_Mutation_p.S779L|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402466.1_Missense_Mutation_p.S662L|SETD5_ENST00000302463.6_Missense_Mutation_p.S662L|SETD5_ENST00000402198.1_Missense_Mutation_p.S760L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	760										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)		CGCTTTGGCTCACCCTTTATC	0.483																																																	0													100	96	97					3																	9490247		1944	4154	6098	SO:0001583	missense	0			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.2279C>T	3.37:g.9490247C>T	ENSP00000383939:p.Ser760Leu		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.S760L	ENST00000406341.1	37	c.2279	CCDS46741.1	3	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951410	0.92660	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.96334	-3.61;-3.98;-3.61;-3.55;-3.98	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.999;0.999	D;D;D;D	0.85130	0.997;0.99;0.991;0.991	D	0.98285	1.0510	10	0.87932	D	0	-11.0268	20.5568	0.99304	0.0:1.0:0.0:0.0	.	429;662;760;779	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	L	760;662;760;779;662	ENSP00000385852:S760L;ENSP00000384429:S662L;ENSP00000383939:S760L;ENSP00000384114:S779L;ENSP00000302028:S662L	ENSP00000302028:S662L	S	+	2	0	SETD5	9465247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	TCA	SETD5	-	NULL	ENSG00000168137		0.483	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	-	0	71	0	C	XM_371614		9490247	1	tier1	-	no_errors	ENST00000402198	ensembl	human	known	74_37	missense	51.32	37	39	SNP	1.000	T	T	9490247	C	T	9490247	3	4	157	1	0	0	0	0	1	0	0	0	14179	838	29	3	2333	3	SETD5	3	9490247	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09		9490247	188532183	42	39900											
ATP2B2	491	genome.wustl.edu	37	chr3	10401655	10401655	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcatggacttgcgcacGgagttgaaggtgtacacttt	8	12	13	8	2	1	1	1	1	0	0	1	3	1	3	0	3	3	4	0	3	2	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:10401655G>T	ENST00000352432.4	-	12	1881	c.1812C>A	c.(1810-1812)tcC>tcA	p.S604S	ATP2B2_ENST00000383800.4_Silent_p.S559S|ATP2B2_ENST00000343816.4_Silent_p.S590S|ATP2B2_ENST00000360273.2_Silent_p.S604S|ATP2B2_ENST00000397077.1_Silent_p.S559S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	604					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						ACTTGCGCACGGAGTTGAAGG	0.582																																					Ovarian(125;1619 1709 15675 19819 38835)												0													105	85	92					3																	10401655		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1812C>A	3.37:g.10401655G>T			O00766|Q12994|Q16818	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.S604	ENST00000352432.4	37	c.1812	CCDS33701.1	3																																																																																			ATP2B2	-	superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000157087		0.582	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2		0	35	0	G	NM_001683		10401655	-1			no_errors	ENST00000352432	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.010	T	T	10401655	G	T	10401655	2	4	157	1	0	0	0	0	0	0	0	1	1141	1103	39	2		2	ATP2B2	3	10401655	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	911408	10401655	187620775	43	39901											
ZNF445	353274	genome.wustl.edu	37	chr3	44489870	44489870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagccccttcccatatttCttgtagtcatagtggtgtga	7	15	9	10	0	2	2	1	2	1	0	3	2	3	2	3	1	1	1	3	1	3	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:44489870C>G	ENST00000396077.2	-	8	1640	c.1293G>C	c.(1291-1293)aaG>aaC	p.K431N	ZNF445_ENST00000425708.2_Missense_Mutation_p.K431N	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	431					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)		TCCCATATTTCTTGTAGTCAT	0.418																																																	0													120	121	121					3																	44489870		2203	4300	6503	SO:0001583	missense	0			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.1293G>C	3.37:g.44489870C>G	ENSP00000379387:p.Lys431Asn		Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.K431N	ENST00000396077.2	37	c.1293	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	C	9.773	1.173141	0.21704	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.05513	3.43;3.43	4.03	-0.0145	0.13980	.	0.495616	0.18794	N	0.130966	T	0.03263	0.0095	N	0.20357	0.565	0.23831	N	0.99672	B;B	0.15141	0.004;0.012	B;B	0.08055	0.003;0.003	T	0.42275	-0.9461	10	0.25751	T	0.34	.	3.9819	0.09498	0.4962:0.3104:0.0:0.1934	.	419;431	B7ZKX2;P59923	.;ZN445_HUMAN	N	431	ENSP00000413073:K431N;ENSP00000379387:K431N	ENSP00000379387:K431N	K	-	3	2	ZNF445	44464874	0.000000	0.05858	0.153000	0.22517	0.474000	0.32979	0.027000	0.13621	-0.014000	0.14175	-0.293000	0.09583	AAG	ZNF445	-	NULL	ENSG00000185219		0.418	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	-	0	26	0	C	NM_181489		44489870	-1	tier1	-	no_errors	ENST00000396077	ensembl	human	known	74_37	missense	20.69	46	12	SNP	0.653	G	G	44489870	C	G	44489870	3	3	157	1	0	0	0	0	1	0	0	0	17966	912	32	5	1806	5	ZNF445	3	44489870	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	34088215	44489870	153532560	44	39902											
ZNF167	55888	genome.wustl.edu	37	chr3	44611892	44611892	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagctcattgttcatctCagaacccacacaggggaaaa	13	8	7	13	0	3	1	3	0	1	1	5	2	4	2	2	2	2	2	2	2	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:44611892C>A	ENST00000273320.3	+	6	1719	c.1290C>A	c.(1288-1290)ctC>ctA	p.L430L	ZKSCAN7_ENST00000426540.1_Silent_p.L430L|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	430					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)										TTGTTCATCTCAGAACCCACA	0.488																																																	0													37	39	38					3																	44611892		2202	4299	6501	SO:0001819	synonymous_variant	0			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1290C>A	3.37:g.44611892C>A			A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L430	ENST00000273320.3	37	c.1290	CCDS2715.1	3																																																																																			ZKSCAN7	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196345		0.488	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN7	HGNC	protein_coding	OTTHUMT00000256752.4	-	0	73	0	C	NM_018651		44611892	1	tier1	-	no_errors	ENST00000273320	ensembl	human	known	74_37	silent	5.43	87	5	SNP	0.923	A	A	44611892	C	A	44611892	2	1	157	1	0	0	0	0	0	0	0	1	17789	813	29	3		3	ZNF167	3	44611892	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	122022	44611892	153410538	45	39903											
GSK3B	2932	genome.wustl.edu	37	chr3	119812226	119812226	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgctgccaaaagctgaaggcTgctgcaccggcttgcagctc	8	8	12	13	1	0	1	0	1	0	0	1	1	0	1	2	2	7	8	2	2	3	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:119812226T>C	ENST00000264235.8	-	1	1038	c.56A>G	c.(55-57)cAg>cGg	p.Q19R	RP11-18H7.1_ENST00000469070.1_lincRNA|GSK3B_ENST00000316626.5_Missense_Mutation_p.Q19R	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	19					axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	AGCTGAAGGCTGCTGCACCGG	0.488																																																	0													101	107	105					3																	119812226		2203	4300	6503	SO:0001583	missense	0			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.56A>G	3.37:g.119812226T>C	ENSP00000264235:p.Gln19Arg		D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q19R	ENST00000264235.8	37	c.56	CCDS54628.1	3	.	.	.	.	.	.	.	.	.	.	T	4.985	0.182899	0.09495	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.59502	0.26;0.3	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	N	0.14661	0.345	0.47276	D	0.999378	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.17349	-1.0372	10	0.09084	T	0.74	-5.6943	12.0184	0.53329	0.0:0.0:0.0:1.0	.	19;19	P49841;P49841-2	GSK3B_HUMAN;.	R	19	ENSP00000264235:Q19R;ENSP00000324806:Q19R	ENSP00000264235:Q19R	Q	-	2	0	GSK3B	121294916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.427000	0.66483	1.721000	0.51461	0.450000	0.29827	CAG	GSK3B	-	NULL	ENSG00000082701		0.488	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3B	HGNC	protein_coding	OTTHUMT00000258240.2	-	0	29	0	T			119812226	-1	tier1	-	no_errors	ENST00000316626	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	C	C	119812226	T	C	119812226	3	2	157	1	0	0	0	0	1	0	0	0	6851	1580	55	4	1293	4	GSK3B	3	119812226	Missense_Mutation	SNP	T	TCGA-V5-A7RE-01A-11D-A351-09	75200334	119812226	78210204	46	39904											
COL6A6	131873	genome.wustl.edu	37	chr3	130282231	130282231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaaatgggagagacaaGaaacagtttcccccaattct	14	7	8	12	1	1	2	0	0	1	2	2	4	2	3	3	1	1	2	3	1	4	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:130282231G>T	ENST00000358511.6	+	2	415	c.384G>T	c.(382-384)aaG>aaT	p.K128N	COL6A6_ENST00000453409.2_Missense_Mutation_p.K128N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	128	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 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						GGAGAGACAAGAAACAGTTTC	0.498																																																	0													42	42	42					3																	130282231		1886	4112	5998	SO:0001583	missense	0			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.384G>T	3.37:g.130282231G>T	ENSP00000351310:p.Lys128Asn		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.K128N	ENST00000358511.6	37	c.384	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	8.613	0.889623	0.17540	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82984	-1.67;-1.67	5.21	3.29	0.37713	von Willebrand factor, type A (3);	0.460721	0.20698	N	0.087328	T	0.70456	0.3226	L	0.31476	0.935	0.22050	N	0.999394	B	0.06786	0.001	B	0.13407	0.009	T	0.57499	-0.7801	10	0.34782	T	0.22	.	6.782	0.23650	0.165:0.1489:0.6862:0.0	.	128	A6NMZ7	CO6A6_HUMAN	N	128	ENSP00000351310:K128N;ENSP00000399236:K128N	ENSP00000351310:K128N	K	+	3	2	COL6A6	131764921	0.047000	0.20315	0.873000	0.34254	0.315000	0.28087	0.440000	0.21592	1.334000	0.45468	0.561000	0.74099	AAG	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0	47	0	G	NM_001102608		130282231	1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	27.03	54	20	SNP	0.603	T	T	130282231	G	T	130282231	3	4	157	1	0	0	0	0	1	0	0	0	3710	933	33	3	390	3	COL6A6	3	130282231	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	10470005	130282231	67740199	47	39905											
CLSTN2	64084	genome.wustl.edu	37	chr3	140277669	140277669	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtgagcaccttcgccaaaAccgaagcccccggggacgtg	9	6	12	14	4	0	1	0	1	0	0	1	3	0	2	5	2	3	1	5	2	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:140277669A>C	ENST00000458420.3	+	12	2201	c.2011A>C	c.(2011-2013)Acc>Ccc	p.T671P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	671					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTTCGCCAAAACCGAAGCCCC	0.522										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													46	48	48					3																	140277669		2203	4300	6503	SO:0001583	missense	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2011A>C	3.37:g.140277669A>C	ENSP00000402460:p.Thr671Pro		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T671P	ENST00000458420.3	37	c.2011	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	A	9.331	1.060554	0.19987	.	.	ENSG00000158258	ENST00000458420	T	0.29917	1.55	5.41	-0.994	0.10225	.	0.887861	0.09600	N	0.780298	T	0.13713	0.0332	N	0.16368	0.405	0.20403	N	0.999904	B	0.31730	0.337	B	0.23574	0.047	T	0.23619	-1.0183	9	.	.	.	-35.3494	4.8884	0.13715	0.4279:0.2851:0.287:0.0	.	671	Q9H4D0	CSTN2_HUMAN	P	671	ENSP00000402460:T671P	.	T	+	1	0	CLSTN2	141760359	0.000000	0.05858	0.031000	0.17742	0.008000	0.06430	-0.021000	0.12504	-0.262000	0.09392	-0.248000	0.11899	ACC	CLSTN2	-	NULL	ENSG00000158258		0.522	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	-	0	31	0	A	NM_022131		140277669	1	tier1	-	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	20.24	67	17	SNP	0.033	C	C	140277669	A	C	140277669	3	2	157	1	0	0	0	0	1	0	0	0	3569	43	2	4	2057	4	CLSTN2	3	140277669	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	9995438	140277669	57744761	48	39906											
CLSTN2	64084	genome.wustl.edu	37	chr3	140282913	140282913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccaccagcacttcatccagGagactgaggctgccaaggaa	12	5	10	14	0	1	2	1	1	0	1	2	4	2	3	4	3	2	2	4	3	2	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:140282913G>A	ENST00000458420.3	+	16	2783	c.2593G>A	c.(2593-2595)Gag>Aag	p.E865K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	865					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTTCATCCAGGAGACTGAGGC	0.562										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													182	160	167					3																	140282913		2203	4300	6503	SO:0001583	missense	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2593G>A	3.37:g.140282913G>A	ENSP00000402460:p.Glu865Lys		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E865K	ENST00000458420.3	37	c.2593	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388384	0.42308	.	.	ENSG00000158258	ENST00000458420	T	0.28895	1.59	5.75	5.75	0.90469	.	0.361115	0.32671	N	0.005797	T	0.32793	0.0841	M	0.64997	1.995	0.49687	D	0.999812	B	0.30763	0.294	B	0.24974	0.057	T	0.04855	-1.0922	9	.	.	.	-33.5473	17.4314	0.87540	0.0:0.0:1.0:0.0	.	865	Q9H4D0	CSTN2_HUMAN	K	865	ENSP00000402460:E865K	.	E	+	1	0	CLSTN2	141765603	1.000000	0.71417	0.752000	0.31206	0.259000	0.26198	7.985000	0.88162	2.711000	0.92665	0.655000	0.94253	GAG	CLSTN2	-	NULL	ENSG00000158258		0.562	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	-	0	51	0	G	NM_022131		140282913	1	tier1	-	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.994	A	A	140282913	G	A	140282913	3	1	157	1	0	0	0	0	1	0	0	0	3569	1175	41	3	2655	3	CLSTN2	3	140282913	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	5244	140282913	57739517	49	39907											
MME	4311	genome.wustl.edu	37	chr3	154859844	154859844	+	Missense_Mutation	SNP	A	A	T	1	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	gaatattagtattacaaatgAggaagatgtggttgtttatg	14	15	11	1	0	0	2	0	1	0	1	0	4	0	3	0	2	1	3	0	2	8	7			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:154859844A>T	ENST00000460393.1	+	11	1142	c.1022A>T	c.(1021-1023)gAg>gTg	p.E341V	MME_ENST00000462745.1_Missense_Mutation_p.E341V|MME_ENST00000492661.1_Missense_Mutation_p.E341V|MME_ENST00000360490.2_Missense_Mutation_p.E341V|MME_ENST00000493237.1_Missense_Mutation_p.E341V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	341					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)	ATTACAAATGAGGAAGATGTG	0.373																																																	0													118	121	120					3																	154859844		2203	4300	6503	SO:0001583	missense	0				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.1022A>T	3.37:g.154859844A>T	ENSP00000418525:p.Glu341Val		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E341V	ENST00000460393.1	37	c.1022	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	A	14.04	2.417372	0.42918	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	6.02	6.02	0.97574	Peptidase M13 (1);	0.251850	0.41938	D	0.000796	T	0.67636	0.2914	L	0.39147	1.195	0.31341	N	0.683653	B	0.29085	0.232	B	0.30943	0.122	T	0.72707	-0.4212	10	0.59425	D	0.04	-31.8745	12.7166	0.57119	0.826:0.174:0.0:0.0	.	341	P08473	NEP_HUMAN	V	341	ENSP00000420389:E341V;ENSP00000418525:E341V;ENSP00000419653:E341V;ENSP00000417079:E341V;ENSP00000353679:E341V	ENSP00000353679:E341V	E	+	2	0	MME	156342538	0.997000	0.39634	0.996000	0.52242	0.989000	0.77384	3.462000	0.53042	2.306000	0.77630	0.482000	0.46254	GAG	MME	-	pfam_Peptidase_M13_N	ENSG00000196549		0.373	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	-	0	67	0	A	NM_000902		154859844	1	tier1	-	no_errors	ENST00000360490	ensembl	human	known	74_37	missense	26.37	67	24	SNP	0.982	T	T	154859844	A	T	154859844	3	4	157	1	0	0	0	0	1	0	0	0	9683	304	11	5	1060	5	MME	3	154859844	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	14576931	154859844	43162586	50	39908											
NAALADL2	254827	genome.wustl.edu	37	chr3	175293960	175293960	+	Silent	SNP	C	C	T	0	0	0	1	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	gtgcagtttgcttacgaggaCatcaaaacattagaggtgat	13	11	11	6	1	1	2	1	1	0	1	1	4	1	3	0	2	4	3	0	2	4	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:175293960C>T	ENST00000454872.1	+	10	1913	c.1785C>T	c.(1783-1785)gaC>gaT	p.D595D	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	595						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)		CTTACGAGGACATCAAAACAT	0.373																																																	0													156	151	153					3																	175293960		1877	4113	5990	SO:0001819	synonymous_variant	0				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.1785C>T	3.37:g.175293960C>T			Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	superfamily_TFR-like_dimer_dom	p.D595	ENST00000454872.1	37	c.1785	CCDS46960.1	3																																																																																			NAALADL2	-	NULL	ENSG00000177694		0.373	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	-	0	40	0	C	NM_207015		175293960	1	tier1	-	no_errors	ENST00000454872	ensembl	human	known	74_37	silent	22.00	39	11	SNP	0.998	T	T	175293960	C	T	175293960	2	4	157	1	0	0	0	0	0	0	0	1	10168	477	17	3		3	NAALADL2	3	175293960	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	20434116	175293960	22728470	51	39909											
AHSG	197	genome.wustl.edu	37	chr3	186333527	186333527	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacaccctggaaaccacctgCcatgtgctggaccccacccc	9	5	8	19	0	0	0	0	0	0	0	0	3	0	2	8	2	3	1	8	2	1	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:186333527C>T	ENST00000273784.5	+	2	343	c.267C>T	c.(265-267)tgC>tgT	p.C89C	AHSG_ENST00000411641.2_Silent_p.C89C	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	89	Cystatin fetuin-A-type 1. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AAACCACCTGCCATGTGCTGG	0.562																																																	0													85	83	84					3																	186333527		2203	4300	6503	SO:0001819	synonymous_variant	0			D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.267C>T	3.37:g.186333527C>T			A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.C89	ENST00000273784.5	37	c.267		3																																																																																			AHSG	-	smart_Prot_inh_cystat	ENSG00000145192		0.562	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	AHSG	HGNC	protein_coding	OTTHUMT00000344762.1	-	0	35	0	C	NM_001622		186333527	1	tier1	-	no_errors	ENST00000411641	ensembl	human	known	74_37	silent	69.23	16	36	SNP	1.000	T	T	186333527	C	T	186333527	2	4	157	1	0	0	0	0	0	0	0	1	420	747	26	3		3	AHSG	3	186333527	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	11039567	186333527	11688903	52	39910											
ATP13A5	344905	genome.wustl.edu	37	chr3	193039503	193039503	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaacctggccaccatttCtggggcacctttcatgtaga	9	10	10	12	0	2	2	1	0	1	2	2	2	2	2	4	3	1	3	4	3	2	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:193039503C>A	ENST00000342358.4	-	16	1999	c.1882G>T	c.(1882-1884)Gaa>Taa	p.E628*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	628						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E628*(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCCACCATTTCTGGGGCACCT	0.443																																																	1	Substitution - Nonsense(1)	kidney(1)											77	75	76					3																	193039503		2203	4300	6503	SO:0001587	stop_gained	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1882G>T	3.37:g.193039503C>A	ENSP00000341942:p.Glu628*		Q6UWS4|Q6ZWL0	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.E628*	ENST00000342358.4	37	c.1882	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	C	41	8.960551	0.99018	.	.	ENSG00000187527	ENST00000342358	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.1569	18.6639	0.91481	0.0:1.0:0.0:0.0	.	.	.	.	X	628	.	ENSP00000341942:E628X	E	-	1	0	ATP13A5	194522197	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	7.353000	0.79414	2.760000	0.94817	0.655000	0.94253	GAA	ATP13A5	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000187527		0.443	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	-	0	59	0	C	NM_198505		193039503	-1	tier1	-	no_errors	ENST00000342358	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	1.000	A	A	193039503	C	A	193039503	4	1	157	1	0	0	0	0	0	1	0	0	1128	922	32	3	1832	3	ATP13A5	3	193039503	Nonsense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	6705976	193039503	4982927	53	39911											
PAK2	5062	genome.wustl.edu	37	chr3	196529902	196529902	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	tgttagggcatgccagaacaGtgggctcgattactacagac	11	9	12	9	1	0	2	0	0	0	2	1	3	0	2	1	2	4	3	1	2	4	3	rs201465227	byFrequency	TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr3:196529902G>C	ENST00000327134.3	+	4	625	c.303G>C	c.(301-303)caG>caC	p.Q101H		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	101	Autoregulatory region. {ECO:0000250}.|GTPase-binding. {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)		TGCCAGAACAGTGGGCTCGAT	0.373																																																	0													82	72	76					3																	196529902		2203	4300	6503	SO:0001583	missense	0			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.303G>C	3.37:g.196529902G>C	ENSP00000314067:p.Gln101His		Q13154|Q6ISC3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.Q101H	ENST00000327134.3	37	c.303	CCDS3321.1	3	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480973	0.63849	.	.	ENSG00000180370	ENST00000327134	D	0.86366	-2.11	5.51	1.7	0.24286	PAK-box/P21-Rho-binding (2);	0.000000	0.85682	D	0.000000	D	0.92283	0.7552	M	0.91090	3.175	0.52099	D	0.999949	D	0.60160	0.987	P	0.61275	0.886	D	0.90843	0.4725	10	0.72032	D	0.01	.	6.8738	0.24135	0.4882:0.0:0.5118:0.0	.	101	Q13177	PAK2_HUMAN	H	101	ENSP00000314067:Q101H	ENSP00000314067:Q101H	Q	+	3	2	PAK2	198014299	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.826000	0.27407	0.705000	0.31890	-0.253000	0.11424	CAG	PAK2	-	pfam_CRIB_dom,superfamily_WASP_C,smart_CRIB_dom	ENSG00000180370		0.373	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK2	HGNC	protein_coding	OTTHUMT00000340548.1	-	0	47	0	G	NM_002577		196529902	1	tier1	rs201465227	no_errors	ENST00000327134	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C	C	196529902	G	C	196529902	3	2	157	1	0	0	0	0	1	0	0	0	11440	1020	36	5	313	5	PAK2	3	196529902	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	3490399	196529902	1492528	54	39912											
GPR125	166647	genome.wustl.edu	37	chr4	22517302	22517304	+	In_Frame_Del	DEL	CGC	CGC	-																															gccggcgggcagcgccgcggCgccgccgccgccgccgcctc																										TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	CGC	CGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr4:22517302_22517304delCGC	ENST00000334304.5	-	1	373_375	c.104_106delGCG	c.(103-108)ggcgcc>gcc	p.G35del	GPR125_ENST00000502482.1_In_Frame_Del_p.G35del	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	35					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				agcgccgcggcgccgccgccgcc	0.808																																																	0																																										SO:0001651	inframe_deletion	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.104_106delGCG	4.37:g.22517311_22517313delCGC	ENSP00000334952:p.Gly35del		Q6UXK9|Q86SQ5|Q8TC55	In_Frame_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.G35in_frame_del	ENST00000334304.5	37	c.106_104	CCDS33964.1	4																																																																																			GPR125	-	NULL	ENSG00000152990		0.808	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3		0	38	0	CGC			22517304	-1	tier1		no_errors	ENST00000334304	ensembl	human	known	74_37	in_frame_del	9.38	29	3	DEL	0.040:0.037:0.033	-	-	22517304	CGC	-	22517302	7	5	157	1	0	1	0	1	0	0	0	0	6665	768	27	0	3935	0	GPR125	4	22517302	In_Frame_Del	DEL	CGC	TCGA-V5-A7RE-01A-11D-A351-09		22517302	168636974	55	39913											
TLR10	81793	genome.wustl.edu	37	chr4	38775354	38775354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcttgggttgttttcctaaCcctgtgccatgtttgtgtgc	3	19	10	9	0	1	0	0	0	1	0	2	0	2	0	3	1	3	3	3	1	1	7			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr4:38775354C>T	ENST00000308973.4	-	4	2463	c.1858G>A	c.(1858-1860)Gtt>Att	p.V620I	TLR10_ENST00000508334.1_Missense_Mutation_p.V620I|TLR10_ENST00000506111.1_Missense_Mutation_p.V620I|TLR10_ENST00000361424.2_Missense_Mutation_p.V620I|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	620					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTTTTCCTAACCCTGTGCCAT	0.448																																																	0													141	131	135					4																	38775354		2203	4300	6503	SO:0001583	missense	0			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1858G>A	4.37:g.38775354C>T	ENSP00000308925:p.Val620Ile		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.V620I	ENST00000308973.4	37	c.1858	CCDS3445.1	4	.	.	.	.	.	.	.	.	.	.	C	3.203	-0.163337	0.06502	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.32	2.56	0.30785	.	0.852671	0.09763	N	0.758969	T	0.10809	0.0264	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34254	-0.9836	10	0.54805	T	0.06	.	4.7866	0.13227	0.1375:0.553:0.0:0.3095	.	620	Q9BXR5	TLR10_HUMAN	I	620	ENSP00000308925:V620I;ENSP00000421483:V620I;ENSP00000354459:V620I;ENSP00000424923:V620I	ENSP00000308925:V620I	V	-	1	0	TLR10	38451749	0.000000	0.05858	0.028000	0.17463	0.267000	0.26476	-0.055000	0.11807	0.194000	0.20326	-0.225000	0.12378	GTT	TLR10	-	pirsf_Toll-like_receptor	ENSG00000174123		0.448	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	-	0	71	0	C			38775354	-1	tier1	-	no_errors	ENST00000308973	ensembl	human	known	74_37	missense	30.34	62	27	SNP	0.019	T	T	38775354	C	T	38775354	3	4	157	1	0	0	0	0	1	0	0	0	15997	507	18	3	581	3	TLR10	4	38775354	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	16258052	38775354	152378922	56	39914											
CDKL2	8999	genome.wustl.edu	37	chr4	76522369	76522369	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatcaatttttgagcCttttattttaaatagtttat	10	22	3	6	0	2	1	1	1	1	0	3	1	2	1	2	0	1	1	2	0	6	10			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr4:76522369C>A	ENST00000429927.2	-	9	1775	c.1072G>T	c.(1072-1074)Ggc>Tgc	p.G358C	CDKL2_ENST00000307465.4_Missense_Mutation_p.G358C	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	358					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)			ATTTTTGAGCCTTTTATTTTA	0.333																																																	0													58	58	58					4																	76522369		2203	4300	6503	SO:0001583	missense	0			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.1072G>T	4.37:g.76522369C>A	ENSP00000412365:p.Gly358Cys		B2R695	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G358C	ENST00000429927.2	37	c.1072	CCDS3570.1	4	.	.	.	.	.	.	.	.	.	.	C	9.280	1.047919	0.19827	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.72505	0.83;-0.66	4.74	2.94	0.34122	.	.	.	.	.	T	0.50343	0.1610	N	0.17082	0.46	0.09310	N	1	B;B	0.18741	0.004;0.03	B;B	0.17979	0.005;0.02	T	0.39941	-0.9589	9	0.51188	T	0.08	-5.2047	3.7348	0.08507	0.1693:0.5743:0.1641:0.0924	.	358;358	B4DH08;Q92772	.;CDKL2_HUMAN	C	358	ENSP00000412365:G358C;ENSP00000306340:G358C	ENSP00000306340:G358C	G	-	1	0	CDKL2	76741393	0.009000	0.17119	0.890000	0.34922	0.723000	0.41478	0.104000	0.15313	1.187000	0.43000	0.591000	0.81541	GGC	CDKL2	-	NULL	ENSG00000138769		0.333	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	HGNC	protein_coding	OTTHUMT00000252409.2		0	37	0	C	NM_003948		76522369	-1			no_errors	ENST00000429927	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.036	A	A	76522369	C	A	76522369	3	1	157	1	0	0	0	0	1	0	0	0	3161	681	24	3	421	3	CDKL2	4	76522369	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	37747015	76522369	114631907	57	39915											
PCDH10	57575	genome.wustl.edu	37	chr4	134071353	134071353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggagtcttttcccagCttcactacacggtacaggag	10	10	11	10	1	2	0	1	0	1	0	3	3	3	3	1	4	3	2	1	4	3	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr4:134071353C>A	ENST00000264360.5	+	1	884	c.58C>A	c.(58-60)Ctt>Att	p.L20I	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	20	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTTTTCCCAGCTTCACTACAC	0.502																																																	0													133	127	129					4																	134071353		2203	4300	6503	SO:0001583	missense	0			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.58C>A	4.37:g.134071353C>A	ENSP00000264360:p.Leu20Ile		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L20I	ENST00000264360.5	37	c.58	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	C	1.351	-0.591298	0.03799	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.38077	1.16	4.91	4.91	0.64330	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	0.000000	0.40222	N	0.001146	T	0.16514	0.0397	N	0.02685	-0.53	0.58432	D	0.999991	B;B	0.20550	0.046;0.001	B;B	0.22601	0.04;0.023	T	0.12760	-1.0535	10	0.02654	T	1	.	17.8782	0.88831	0.0:1.0:0.0:0.0	.	20;20	Q9P2E7;Q96SF0	PCD10_HUMAN;.	I	20	ENSP00000264360:L20I	ENSP00000264360:L20I	L	+	1	0	PCDH10	134290803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.144000	0.50616	2.550000	0.86006	0.555000	0.69702	CTT	PCDH10	-	pfam_Cadherin_N,superfamily_Cadherin-like	ENSG00000138650		0.502	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	48	0	C	NM_032961		134071353	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	missense	16.44	61	12	SNP	1.000	A	A	134071353	C	A	134071353	3	1	157	1	0	0	0	0	1	0	0	0	11546	797	28	3	60	3	PCDH10	4	134071353	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	57548984	134071353	57082923	58	39916											
OTUD4	54726	genome.wustl.edu	37	chr4	146085307	146085307	+	Splice_Site	DEL	T	T	-																															cactttgaaaaattcttaccTtttcaggaaaattattttct																										TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr4:146085307delT	ENST00000447906.2	-	5	600	c.413delA	c.(412-414)aag>ag	p.K138fs	OTUD4_ENST00000509620.2_Splice_Site_p.K73fs|OTUD4_ENST00000454497.2_Splice_Site_p.K73fs|OTUD4_ENST00000296579.6_Splice_Site_p.K73fs|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	138	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				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)					AATTCTTACCTTTTCAGGAAA	0.254																																																	0													13	13	13					4																	146085307		2101	4185	6286	SO:0001630	splice_region_variant	0				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.414+1A>-	4.37:g.146085307delT			B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Frame_Shift_Del	DEL	pfam_OTU,pfscan_OTU	p.K138fs	ENST00000447906.2	37	c.413		4																																																																																			OTUD4	-	pfam_OTU,pfscan_OTU	ENSG00000164164		0.254	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2		0	113	0	T	NM_017493	Frame_Shift_Del	146085307	-1	tier1		no_errors	ENST00000447906	ensembl	human	known	74_37	frame_shift_del	32.65	66	32	DEL	1.000	-	-	146085307	T	-	146085307	8	5	157	1	0	1	0	1	0	0	1	0	11353	1623	56	0	3003	0	OTUD4	4	146085307	Splice_Site	DEL	T	TCGA-V5-A7RE-01A-11D-A351-09	12013954	146085307	45068969	59	39917											
CDH12	1010	genome.wustl.edu	37	chr5	21802328	21802328	+	Missense_Mutation	SNP	T	T	C	0	1	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	agcagtgacagcgccaatgaTggtccctaccggagtgtctt	9	9	12	11	2	1	2	0	2	1	0	2	3	2	3	3	2	3	1	3	2	2	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr5:21802328T>C	ENST00000382254.1	-	10	2290	c.1204A>G	c.(1204-1206)Atc>Gtc	p.I402V	CDH12_ENST00000522262.1_Missense_Mutation_p.I362V|CDH12_ENST00000504376.2_Missense_Mutation_p.I402V|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	402	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)	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						GCGCCAATGATGGTCCCTACC	0.473										HNSCC(59;0.17)																																							0													100	76	84					5																	21802328		2203	4300	6503	SO:0001583	missense	0			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.1204A>G	5.37:g.21802328T>C	ENSP00000371689:p.Ile402Val		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I402V	ENST00000382254.1	37	c.1204	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	T	2.408	-0.336122	0.05278	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.50548	0.74;0.74;0.74	5.84	4.68	0.58851	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	N	0.11255	0.115	0.49582	D	0.999803	B;D	0.53151	0.004;0.958	B;D	0.70716	0.058;0.97	T	0.30679	-0.9970	10	0.07175	T	0.84	.	11.6147	0.51083	0.0:0.0691:0.0:0.9309	.	362;402	B7Z2U6;P55289	.;CAD12_HUMAN	V	402;402;362	ENSP00000423577:I402V;ENSP00000371689:I402V;ENSP00000428786:I362V	ENSP00000371689:I402V	I	-	1	0	CDH12	21838085	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	1.654000	0.37334	1.051000	0.40369	0.533000	0.62120	ATC	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000154162		0.473	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	-	0	44	0	T	NM_004061		21802328	-1	tier1	-	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	23.53	52	16	SNP	1.000	C	C	21802328	T	C	21802328	3	2	157	1	0	0	0	0	1	0	0	0	3105	1464	51	4	1204	4	CDH12	5	21802328	Missense_Mutation	SNP	T	TCGA-V5-A7RE-01A-11D-A351-09		21802328	159112932	60	39918											
PDZD2	23037	genome.wustl.edu	37	chr5	31799459	31799459	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tgggccggagcagcggctctGccaggcggccatccagaagc	7	4	16	14	3	1	1	0	0	1	1	2	2	2	2	4	5	4	2	4	5	1	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr5:31799459G>A	ENST00000438447.1	+	2	492	c.104G>A	c.(103-105)tGc>tAc	p.C35Y	PDZD2_ENST00000282493.3_Missense_Mutation_p.C35Y			O15018	PDZD2_HUMAN	PDZ domain containing 2	35					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGCGGCTCTGCCAGGCGGCC	0.622																																																	0													67	69	68					5																	31799459		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.104G>A	5.37:g.31799459G>A	ENSP00000402033:p.Cys35Tyr		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.C35Y	ENST00000438447.1	37	c.104	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101467	0.56183	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.65364	-0.15;-0.15	5.67	5.67	0.87782	.	0.000000	0.49916	D	0.000121	T	0.49779	0.1577	N	0.17082	0.46	0.43126	D	0.994858	D	0.53312	0.959	P	0.46659	0.523	T	0.53129	-0.8482	10	0.48119	T	0.1	.	10.6552	0.45671	0.0866:0.0:0.9134:0.0	.	35	O15018	PDZD2_HUMAN	Y	35	ENSP00000402033:C35Y;ENSP00000282493:C35Y	ENSP00000282493:C35Y	C	+	2	0	PDZD2	31835216	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.124000	0.77185	2.661000	0.90470	0.655000	0.94253	TGC	PDZD2	-	NULL	ENSG00000133401		0.622	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0	36	0	G			31799459	1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	A	A	31799459	G	A	31799459	3	1	157	1	0	0	0	0	1	0	0	0	11740	1319	46	3	106	3	PDZD2	5	31799459	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	9997131	31799459	149115801	61	39919											
HCN1	348980	genome.wustl.edu	37	chr5	45262169	45262169	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccgacgacatctgtcGgaagagggtgacgcgctgcg	7	6	16	12	6	1	2	0	1	1	1	3	5	2	3	1	3	1	2	1	3	1	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr5:45262169G>A	ENST00000303230.4	-	8	2584	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	843					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						GACATCTGTCGGAAGAGGGTG	0.652																																																	0													43	50	48					5																	45262169		2203	4300	6503	SO:0001587	stop_gained	0			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.2527C>T	5.37:g.45262169G>A	ENSP00000307342:p.Arg843*			Nonsense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R843*	ENST00000303230.4	37	c.2527	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	g	37	6.571771	0.97671	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.01	3.16	0.36331	.	0.000000	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1728	0.65522	0.0:0.0:0.7336:0.2664	.	.	.	.	X	843	.	ENSP00000307342:R843X	R	-	1	2	HCN1	45297926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.207000	0.58480	0.571000	0.29365	0.651000	0.88453	CGA	HCN1	-	NULL	ENSG00000164588		0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	53	0	G	NM_021072		45262169	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	nonsense	17.81	60	13	SNP	1.000	A	A	45262169	G	A	45262169	4	1	157	1	0	0	0	0	0	1	0	0	7023	1124	39	1	149	1	HCN1	5	45262169	Nonsense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	13462710	45262169	135653091	62	39920											
MAP1B	4131	genome.wustl.edu	37	chr5	71494043	71494043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caagaccgatgtcaatttctCcaccagatttctcccctaaa	12	11	4	14	1	3	2	1	0	2	2	5	3	3	2	5	0	0	0	5	0	4	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr5:71494043C>T	ENST00000296755.7	+	5	5159	c.4861C>T	c.(4861-4863)Cca>Tca	p.P1621S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1621					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)		GTCAATTTCTCCACCAGATTT	0.443																																					Melanoma(17;367 822 11631 31730 47712)												0													108	110	109					5																	71494043		2203	4300	6503	SO:0001583	missense	0			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.4861C>T	5.37:g.71494043C>T	ENSP00000296755:p.Pro1621Ser		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.P1621S	ENST00000296755.7	37	c.4861	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219308	0.39201	.	.	ENSG00000131711	ENST00000296755	T	0.03831	3.79	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000008	T	0.10294	0.0252	N	0.11560	0.145	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.48328	-0.9045	10	0.48119	T	0.1	-11.8203	18.7095	0.91651	0.0:1.0:0.0:0.0	.	1495;1621	A2BDK6;P46821	.;MAP1B_HUMAN	S	1621	ENSP00000296755:P1621S	ENSP00000296755:P1621S	P	+	1	0	MAP1B	71529799	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.818000	0.86416	2.435000	0.82474	0.313000	0.20887	CCA	MAP1B	-	NULL	ENSG00000131711		0.443	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0	44	0	C	NM_005909		71494043	1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	14.58	41	7	SNP	1.000	T	T	71494043	C	T	71494043	3	4	157	1	0	0	0	0	1	0	0	0	9266	855	30	3	4879	3	MAP1B	5	71494043	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	26231874	71494043	109421217	63	39921											
MBLAC2	153364	genome.wustl.edu	37	chr5	89756984	89756984	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatattatcagtatagataCtagggcgaggtcctagaatt	14	13	9	5	1	1	2	1	0	0	2	2	3	2	2	1	2	1	1	1	2	9	9			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr5:89756984C>A	ENST00000316610.6	-	2	1315	c.840G>T	c.(838-840)taG>taT	p.*280Y		NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	0						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						AGTATAGATACTAGGGCGAGG	0.318																																																	0													23	24	23					5																	89756984		2198	4297	6495	SO:0001578	stop_lost	0			BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.840G>T	5.37:g.89756984C>A			D6RJI1|Q8IY16|Q8N8D8	Nonstop_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.*280Y	ENST00000316610.6	37	c.840	CCDS4067.1	5	.	.	.	.	.	.	.	.	.	.	C	3.943	-0.013910	0.07681	.	.	ENSG00000176055;ENSG00000259131;ENSG00000259131	ENST00000316610;ENST00000556122;ENST00000546270	.	.	.	6.08	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7207	0.23328	0.0:0.6613:0.1289:0.2098	.	.	.	.	Y	280;280;210	.	.	X	-	3	2	AC093510.2;MBLAC2	89792740	0.976000	0.34144	0.515000	0.27774	0.379000	0.30106	1.058000	0.30504	0.910000	0.36722	0.655000	0.94253	TAG	MBLAC2	-	NULL	ENSG00000176055		0.318	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBLAC2	HGNC	protein_coding	OTTHUMT00000254098.2	-	0	41	0	C	NM_203406		89756984	-1	tier1	-	no_errors	ENST00000316610	ensembl	human	known	74_37	nonstop	16.28	36	7	SNP	0.450	A	A	89756984	C	A	89756984	4	1	157	1	0	0	0	0	0	0	0	0	9390	576	20	3	3	3	MBLAC2	5	89756984	Nonstop_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	18262941	89756984	91158276	64	39922											
PCDHB7	56129	genome.wustl.edu	37	chr5	140552744	140552744	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgcctttccagttgttaTtggaaaaaccttttcagatt	9	17	7	8	0	1	1	1	0	0	1	2	2	2	2	3	1	3	3	3	1	3	7	rs539087999		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr5:140552744T>C	ENST00000231137.3	+	1	502	c.328T>C	c.(328-330)Ttg>Ctg	p.L110L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L110L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGTTGTTATTGGAAAAACC	0.438													T|||	1	0.000199681	0	0	5008	,	,		18122	0.001		0	False		,,,				2504	0																1	Substitution - coding silent(1)	prostate(1)											71	75	74					5																	140552744		2203	4300	6503	SO:0001819	synonymous_variant	0			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.328T>C	5.37:g.140552744T>C			A1L3Y8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L110	ENST00000231137.3	37	c.328	CCDS4249.1	5																																																																																			PCDHB7	-	pfam_Cadherin_N	ENSG00000113212		0.438	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	-	0	53	0	T	NM_018940		140552744	1	tier1	-	no_errors	ENST00000231137	ensembl	human	known	74_37	silent	29.76	59	25	SNP	0.125	C	C	140552744	T	C	140552744	2	2	157	1	0	0	0	0	0	0	0	1	11586	1490	52	4		4	PCDHB7	5	140552744	Silent	SNP	T	TCGA-V5-A7RE-01A-11D-A351-09	50795760	140552744	40362516	65	39923											
PCDH12	51294	genome.wustl.edu	37	chr5	141324976	141324976	+	Missense_Mutation	SNP	T	T	G	0	1	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	ctgctgctgctgctgctgccTctgctcttgccctcagtccc	1	13	9	18	0	3	0	1	0	2	0	4	0	4	0	3	0	8	6	3	0	0	1	rs13188049		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr5:141324976T>G	ENST00000231484.3	-	4	4735	c.3525A>C	c.(3523-3525)agA>agC	p.R1175S		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1175					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)			tgctgctgcctctgctCTTGC	0.587																																																	0													22	22	22					5																	141324976		2203	4299	6502	SO:0001583	missense	0			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.3525A>C	5.37:g.141324976T>G	ENSP00000231484:p.Arg1175Ser		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R1175S	ENST00000231484.3	37	c.3525	CCDS4269.1	5	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.989340	0.00439	.	.	ENSG00000113555	ENST00000231484	T	0.51574	0.7	2.0	-4.01	0.04045	.	0.962512	0.08510	N	0.935114	T	0.13970	0.0338	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10917	-1.0609	10	0.40728	T	0.16	.	1.3153	0.02106	0.1544:0.3727:0.2631:0.2098	rs13188049	1175	Q9NPG4	PCD12_HUMAN	S	1175	ENSP00000231484:R1175S	ENSP00000231484:R1175S	R	-	3	2	PCDH12	141305160	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	0.151000	0.16283	-1.050000	0.03230	-1.263000	0.01449	AGA	PCDH12	-	NULL	ENSG00000113555		0.587	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	-	0	24	0	T	NM_016580		141324976	-1	tier1	rs13188049	no_errors	ENST00000231484	ensembl	human	known	74_37	missense	20.00	32	8	SNP	0.004	G	G	141324976	T	G	141324976	3	3	157	1	0	0	0	0	1	0	0	0	11549	1548	54	4	33	4	PCDH12	5	141324976	Missense_Mutation	SNP	T	TCGA-V5-A7RE-01A-11D-A351-09	772232	141324976	39590284	66	39924											
EBF1	1879	genome.wustl.edu	37	chr5	158141168	158141168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtgcttctaccagatccGcagcccttttgagtattact	9	13	7	12	1	1	2	0	1	1	1	2	2	2	2	3	0	4	3	3	0	3	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr5:158141168G>A	ENST00000313708.6	-	12	1430	c.1148C>T	c.(1147-1149)gCg>gTg	p.A383V	EBF1_ENST00000517373.1_Missense_Mutation_p.A375V|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.A352V	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	383					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)			TACCAGATCCGCAGCCCTTTT	0.468			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													232	217	222					5																	158141168		2203	4300	6503	SO:0001583	missense	0			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.1148C>T	5.37:g.158141168G>A	ENSP00000322898:p.Ala383Val		Q8IW11	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.A383V	ENST00000313708.6	37	c.1148	CCDS4343.1	5	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765339	0.90020	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	D;D;D	0.87103	-2.21;-2.21;-2.21	5.76	5.76	0.90799	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94506	0.8231	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;P;D	0.91635	0.995;0.915;0.691;0.999	D	0.94576	0.7775	10	0.72032	D	0.01	-4.5561	19.9759	0.97304	0.0:0.0:1.0:0.0	.	383;370;383;352	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	V	383;383;352;375	ENSP00000322898:A383V;ENSP00000370029:A352V;ENSP00000428020:A375V	ENSP00000322898:A383V	A	-	2	0	EBF1	158073746	1.000000	0.71417	0.751000	0.31187	0.579000	0.36224	9.869000	0.99810	2.713000	0.92767	0.655000	0.94253	GCG	EBF1	-	superfamily_bHLH_dom	ENSG00000164330		0.468	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	-	0	38	0	G	NM_024007		158141168	-1	tier1	-	no_errors	ENST00000313708	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	158141168	G	A	158141168	3	1	157	1	0	0	0	0	1	0	0	0	4894	1087	38	1	647	1	EBF1	5	158141168	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	16816192	158141168	22774092	67	39925											
TTC1	7265	genome.wustl.edu	37	chr5	159476628	159476628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagactataaatctatattaGaaaaagatccatcaatacat	21	11	3	6	0	2	3	1	0	1	3	3	3	3	3	1	0	1	0	1	0	11	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr5:159476628G>A	ENST00000231238.5	+	6	759	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	TTC1_ENST00000522793.1_Missense_Mutation_p.E217K|TTC1_ENST00000520274.1_3'UTR	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	217					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		ATCTATATTAGAAAAAGATCC	0.353																																																	0													51	54	53					5																	159476628		2203	4300	6503	SO:0001583	missense	0			U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"Tetratricopeptide (TTC) repeat domain containing"	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.649G>A	5.37:g.159476628G>A	ENSP00000231238:p.Glu217Lys		B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E217K	ENST00000231238.5	37	c.649	CCDS4348.1	5	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007708	0.75046	.	.	ENSG00000113312	ENST00000231238;ENST00000522793;ENST00000518560	T;T;T	0.67171	-0.25;-0.25;0.23	5.6	5.6	0.85130	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.143375	0.64402	D	0.000009	T	0.68109	0.2965	N	0.25890	0.77	0.80722	D	1	P	0.51057	0.941	P	0.53313	0.723	T	0.69796	-0.5048	10	0.52906	T	0.07	-5.7864	19.2616	0.93970	0.0:0.0:1.0:0.0	.	217	Q99614	TTC1_HUMAN	K	217;217;49	ENSP00000231238:E217K;ENSP00000429225:E217K;ENSP00000428613:E49K	ENSP00000231238:E217K	E	+	1	0	TTC1	159409206	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.527000	0.90594	2.647000	0.89833	0.650000	0.86243	GAA	TTC1	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000113312		0.353	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC1	HGNC	protein_coding	OTTHUMT00000252675.3	-	0	18	0	G	NM_003314		159476628	1	tier1	-	no_errors	ENST00000231238	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	A	A	159476628	G	A	159476628	3	1	157	1	0	0	0	0	1	0	0	0	16727	943	33	3	667	3	TTC1	5	159476628	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	1335460	159476628	21438632	68	39926											
GFPT2	9945	genome.wustl.edu	37	chr5	179745892	179745892	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaatggagagtttcccatCagccactgcggcgatgtcat	9	10	12	10	2	2	2	2	1	0	1	3	4	3	2	2	2	2	1	2	2	1	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr5:179745892C>G	ENST00000253778.8	-	10	1028	c.859G>C	c.(859-861)Gat>Cat	p.D287H	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	287	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)	AGTTTCCCATCAGCCACTGCG	0.567																																																	0													63	68	66					5																	179745892		2100	4227	6327	SO:0001583	missense	0			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.859G>C	5.37:g.179745892C>G	ENSP00000253778:p.Asp287His		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.D287H	ENST00000253778.8	37	c.859	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957534	0.73902	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.76968	0.97;-1.06	5.39	5.39	0.77823	Glutamine amidotransferase, type II (1);	0.414031	0.29087	N	0.013188	T	0.77343	0.4116	M	0.67397	2.05	0.58432	D	0.999999	B	0.09022	0.002	B	0.12837	0.008	T	0.71876	-0.4460	9	.	.	.	-14.9382	19.1516	0.93491	0.0:1.0:0.0:0.0	.	287	O94808	GFPT2_HUMAN	H	287;189	ENSP00000253778:D287H;ENSP00000431125:D189H	.	D	-	1	0	GFPT2	179678498	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.965000	0.70387	2.545000	0.85829	0.555000	0.69702	GAT	GFPT2	-	tigrfam_GlmS_trans	ENSG00000131459		0.567	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	-	0	30	0	C	NM_005110		179745892	-1	tier1	-	no_errors	ENST00000253778	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	G	G	179745892	C	G	179745892	3	3	157	1	0	0	0	0	1	0	0	0	6372	826	29	5	1229	5	GFPT2	5	179745892	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	20269264	179745892	1169368	69	39927											
FLT4	2324	genome.wustl.edu	37	chr5	180043381	180043381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	actcacactgcccttgcggaCgtagtcggggtctttgtaga	7	11	12	11	3	2	1	1	0	1	1	3	2	2	2	1	3	2	2	1	3	2	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr5:180043381C>T	ENST00000261937.6	-	23	3283	c.3205G>A	c.(3205-3207)Gtc>Atc	p.V1069I	FLT4_ENST00000502649.1_Missense_Mutation_p.V1069I|FLT4_ENST00000393347.3_Missense_Mutation_p.V1069I	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1069	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)	CCCTTGCGGACGTAGTCGGGG	0.602																																					Colon(97;1075 1466 27033 27547 35871)												0													115	104	108					5																	180043381		2203	4300	6503	SO:0001583	missense	0			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.3205G>A	5.37:g.180043381C>T	ENSP00000261937:p.Val1069Ile		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.V1069I	ENST00000261937.6	37	c.3205	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233214	0.79688	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	3.19	3.19	0.36642	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.83257	0.5215	N	0.13352	0.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.86338	0.1703	9	0.72032	D	0.01	.	14.8959	0.70644	0.0:1.0:0.0:0.0	.	1069;1069	E9PD35;P35916	.;VGFR3_HUMAN	I	1069;1069;1069;107	ENSP00000261937:V1069I;ENSP00000377016:V1069I;ENSP00000426057:V1069I;ENSP00000421535:V107I	ENSP00000261937:V1069I	V	-	1	0	FLT4	179975987	1.000000	0.71417	0.994000	0.49952	0.745000	0.42441	7.579000	0.82511	1.807000	0.52817	0.491000	0.48974	GTC	FLT4	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000037280		0.602	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	-	0	36	0	C			180043381	-1	tier1	-	no_errors	ENST00000261937	ensembl	human	known	74_37	missense	33.33	38	19	SNP	1.000	T	T	180043381	C	T	180043381	3	4	157	1	0	0	0	0	1	0	0	0	5966	536	19	1	926	1	FLT4	5	180043381	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	297489	180043381	871879	70	39928											
IRF4	3662	genome.wustl.edu	37	chr6	393167	393167	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cggggcatgaacctggagggCggcggccgaggcggagagtt	7	4	21	9	5	0	2	0	1	0	1	0	5	0	3	2	8	1	2	2	8	1	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:393167C>T	ENST00000380956.4	+	2	141	c.15C>T	c.(13-15)ggC>ggT	p.G5G	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	5					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ACCTGGAGGGCGGCGGCCGAG	0.721			T	IGH@	MM																																			Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	0													14	19	17					6																	393167		2081	4089	6170	SO:0001819	synonymous_variant	0			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.15C>T	6.37:g.393167C>T			Q5VUI7|Q99660	Silent	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.G5	ENST00000380956.4	37	c.15	CCDS4469.1	6																																																																																			IRF4	-	NULL	ENSG00000137265		0.721	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF4	HGNC	protein_coding	OTTHUMT00000043638.1	-	0	15	0	C			393167	1	tier1	-	no_errors	ENST00000380956	ensembl	human	known	74_37	silent	35.00	13	7	SNP	0.106	T	T	393167	C	T	393167	2	4	157	1	0	0	0	0	0	0	0	1	7859	755	27	1		1	IRF4	6	393167	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09		393167	170721900	71	39929											
HUS1B	135458	genome.wustl.edu	37	chr6	656675	656675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccgctgcgcttctcgcCgcccgggacaggtgctccgc	2	6	14	19	7	1	0	0	0	1	0	3	1	2	1	4	2	2	3	4	2	0	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:656675C>T	ENST00000380907.2	-	1	288	c.270G>A	c.(268-270)gcG>gcA	p.A90A	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	90					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CGCTTCTCGCCGCCCGGGACA	0.687																																																	0													14	15	15					6																	656675		2185	4276	6461	SO:0001819	synonymous_variant	0			AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"HUS1 (S. pombe) checkpoint homolog b"			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.270G>A	6.37:g.656675C>T			Q5T4Z2	Silent	SNP	pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1	p.A90	ENST00000380907.2	37	c.270	CCDS4470.1	6																																																																																			HUS1B	-	pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1	ENSG00000188996		0.687	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUS1B	HGNC	protein_coding	OTTHUMT00000205617.2	-	0	13	0	C	NM_148959		656675	-1	tier1	-	no_errors	ENST00000380907	ensembl	human	known	74_37	silent	26.67	11	4	SNP	0.005	T	T	656675	C	T	656675	2	4	157	1	0	0	0	0	0	0	0	1	7487	639	23	1		1	HUS1B	6	656675	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	263508	656675	170458392	72	39930											
HIST1H1E	3008	genome.wustl.edu	37	chr6	26156678	26156680	+	In_Frame_Del	DEL	GAA	GAA	-																															cctgccgagaagactcccgtGaagaagaaggcccgcaagtc																								rs545095988	byFrequency	TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:26156678_26156680delGAA	ENST00000304218.3	+	1	120_122	c.60_62delGAA	c.(58-63)gtgaag>gtg	p.K23del	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	23					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AGACTCCCGTGAAGAAGAAGGCC	0.65														3	0.000599042	0	0.0043	5008	,	,		14947	0		0	False		,,,				2504	0																0										3,4135		0,3,2066						4.3	1			45	0,8162		0,0,4081	no	coding	HIST1H1E	NM_005321.2		0,3,6147	A1A1,A1R,RR		0.0,0.0725,0.0244				3,12297				SO:0001651	inframe_deletion	0			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.60_62delGAA	6.37:g.26156684_26156686delGAA	ENSP00000307705:p.Lys23del		Q4VB25	In_Frame_Del	DEL	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K23in_frame_del	ENST00000304218.3	37	c.60_62	CCDS4586.1	6																																																																																			HIST1H1E	-	prints_Histone_H5	ENSG00000168298		0.65	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1		0	38	0	GAA	NM_005321		26156680	1	tier1		no_errors	ENST00000304218	ensembl	human	known	74_37	in_frame_del	17.46	52	11	DEL	0.932:0.994:0.999	-	-	26156680	GAA	-	26156678	7	5	157	1	0	1	0	1	0	0	0	0	7153	1277	45	0	62	0	HIST1H1E	6	26156678	In_Frame_Del	DEL	GAA	TCGA-V5-A7RE-01A-11D-A351-09	25500003	26156678	144958389	73	39931											
HIST1H3F	8968	genome.wustl.edu	37	chr6	26250430	26250431	+	Frame_Shift_Del	DEL	CT	CT	-																															ccctcagtacaacttatgccCtctctccgcgaatgcggcga																										TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:26250430_26250431delCT	ENST00000446824.2	-	1	404_405	c.403_404delAG	c.(403-405)aggfs	p.R135fs	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	135				Missing (in Ref. 2; AAA52651). {ECO:0000305}.	blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						AACTTATGCCCTCTCTCCGCGA	0.535											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0			Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"Histones / Replication-dependent"	4773	protein-coding gene	gene with protein product		602816	"H3 histone family, member I", "histone 1, H3f"	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.403_404delAG	6.37:g.26250434_26250435delCT	ENSP00000444823:p.Arg135fs	785	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Frame_Shift_Del	DEL	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R135fs	ENST00000446824.2	37	c.404_403	CCDS4600.1	6																																																																																			HIST1H3F	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000256316		0.535	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3F	HGNC	protein_coding	OTTHUMT00000040098.1		0	50	0	CT	NM_021018		26250431	-1	tier1		no_errors	ENST00000446824	ensembl	human	known	74_37	frame_shift_del	38.89	33	21	DEL	0.994:0.813	-	-	26250431	CT	-	26250430	7	5	157	1	0	1	0	1	0	0	0	0	7187	681	24	0	10	0	HIST1H3F	6	26250430	Frame_Shift_Del	DEL	CT	TCGA-V5-A7RE-01A-11D-A351-09	93752	26250430	144864637	74	39932											
HIST1H4K	8362	genome.wustl.edu	37	chr6	27798995	27798995	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttgatagaaagggacgctCaaccaccgaaaccgtagagg	14	6	12	9	3	1	3	1	1	0	2	1	5	1	4	3	2	2	3	3	2	5	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:27798995C>G	ENST00000357549.2	-	1	310	c.311G>C	c.(310-312)tGa>tCa	p.*104S		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	0					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						AAGGGACGCTCAACCACCGAA	0.552																																																	0													37	40	39					6																	27798995		2203	4300	6503	SO:0001578	stop_lost	0			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"Histones / Replication-dependent"	4784	protein-coding gene	gene with protein product		602825	"H4 histone family, member D", "histone 1, H4k"	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.311G>C	6.37:g.27798995C>G			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Nonstop_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.*104S	ENST00000357549.2	37	c.311	CCDS4631.1	6	.	.	.	.	.	.	.	.	.	.	.	1.798	-0.477920	0.04414	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.26	-6.96	0.01622	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7158	0.77667	0.0:0.3071:0.0:0.6929	.	.	.	.	S	104	.	.	X	-	2	2	HIST1H4K	27906974	0.850000	0.29656	0.000000	0.03702	0.000000	0.00434	0.033000	0.13754	-2.164000	0.00782	-1.851000	0.00568	TGA	HIST1H4K	-	NULL	ENSG00000197914		0.552	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4K	HGNC	protein_coding	OTTHUMT00000040156.1	-	0	50	0	C	NM_003541		27798995	-1	tier1	-	no_errors	ENST00000357549	ensembl	human	known	74_37	nonstop	20.51	31	8	SNP	0.004	G	G	27798995	C	G	27798995	4	3	157	1	0	0	0	0	0	0	0	0	7202	837	29	5	4	5	HIST1H4K	6	27798995	Nonstop_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	1548565	27798995	143316072	75	39933											
ZSCAN23	222696	genome.wustl.edu	37	chr6	28403278	28403278	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctcgcaaattatacccaAgttgctcttccaaggtttgg	9	13	7	12	1	2	0	0	0	2	0	4	0	3	0	3	2	2	4	3	2	5	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:28403278A>C	ENST00000289788.4	-	3	660	c.515T>G	c.(514-516)cTt>cGt	p.L172R	ZSCAN23_ENST00000486481.1_5'UTR	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	172					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						ATTATACCCAAGTTGCTCTTC	0.448																																																	0													81	72	75					6																	28403278		692	1591	2283	SO:0001583	missense	0			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.515T>G	6.37:g.28403278A>C	ENSP00000289788:p.Leu172Arg		Q96KV9	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L172R	ENST00000289788.4	37	c.515	CCDS47393.1	6	.	.	.	.	.	.	.	.	.	.	A	8.861	0.947051	0.18356	.	.	ENSG00000187987	ENST00000289788	T	0.06449	3.3	3.75	-7.5	0.01351	.	0.985731	0.08230	N	0.977772	T	0.00637	0.0021	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.47686	-0.9098	10	0.25751	T	0.34	.	2.2117	0.03949	0.1477:0.2519:0.0992:0.5012	.	172	Q3MJ62	ZSC23_HUMAN	R	172	ENSP00000289788:L172R	ENSP00000289788:L172R	L	-	2	0	ZSCAN23	28511257	0.001000	0.12720	0.001000	0.08648	0.075000	0.17131	-1.597000	0.02089	-1.821000	0.01213	-0.429000	0.05907	CTT	ZSCAN23	-	NULL	ENSG00000187987		0.448	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2	-	0	33	0	A	XM_167147		28403278	-1	tier1	-	no_errors	ENST00000289788	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.009	C	C	28403278	A	C	28403278	3	2	157	1	0	0	0	0	1	0	0	0	18283	72	3	4	662	4	ZSCAN23	6	28403278	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	604283	28403278	142711789	76	39934											
COL11A2	1302	genome.wustl.edu	37	chr6	33141697	33141697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggtccccgctgaccccGtggaccctacagagggaaga	8	5	14	14	3	0	3	0	1	0	2	2	5	1	5	5	4	1	1	5	4	2	1	rs149071920		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:33141697G>A	ENST00000374708.4	-	32	2536	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.R765W|COL11A2_ENST00000361917.1_Missense_Mutation_p.R739W|COL11A2_ENST00000395197.1_Missense_Mutation_p.R786W|COL11A2_ENST00000357486.1_Missense_Mutation_p.R825W|COL11A2_ENST00000374713.1_Missense_Mutation_p.R799W|COL11A2_ENST00000341947.2_Missense_Mutation_p.R846W|COL11A2_ENST00000374714.1_Missense_Mutation_p.R820W	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	846	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						CGCTGACCCCGTGGACCCTAC	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		14206	0		0	False		,,,				2504	0				Melanoma(1;90 116 3946 5341 17093)												0								G	TRP/ARG,TRP/ARG,TRP/ARG	6,4400	11.4+/-27.6	0,6,2197	73	77	75		2215,2536,2278	2.7	1	6	dbSNP_134	75	0,8600		0,0,4300	yes	missense,missense,missense	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	101,101,101	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging,probably-damaging	739/1630,846/1737,760/1651	33141697	6,13000	2203	4300	6503	SO:0001583	missense	0			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.2278C>T	6.37:g.33141697G>A	ENSP00000363840:p.Arg760Trp		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.R846W	ENST00000374708.4	37	c.2536	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253105	0.59212	0.001362	0.0	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	4.6	2.69	0.31865	.	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	M	0.86573	2.825	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.99	T	0.70510	-0.4852	10	0.87932	D	0	.	10.2092	0.43131	0.0:0.0:0.4537:0.5463	.	739;760;846	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	W	760;846;825;820;799;786;765;739	ENSP00000363840:R760W;ENSP00000339915:R846W;ENSP00000350079:R825W;ENSP00000363846:R820W;ENSP00000363845:R799W;ENSP00000378623:R786W;ENSP00000363844:R765W;ENSP00000355123:R739W	ENSP00000339915:R846W	R	-	1	2	COL11A2	33249675	0.019000	0.18553	0.974000	0.42286	0.887000	0.51463	0.109000	0.15417	0.469000	0.27268	0.448000	0.29417	CGG	COL11A2	-	pfam_Collagen	ENSG00000204248		0.627	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	-	0	25	0	G			33141697	-1	tier1	rs149071920	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	20.93	34	9	SNP	0.917	A	A	33141697	G	A	33141697	3	1	157	1	0	0	0	0	1	0	0	0	3675	1144	40	1	2806	1	COL11A2	6	33141697	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	4738419	33141697	137973370	77	39935											
TTK	7272	genome.wustl.edu	37	chr6	80749976	80749976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcctggctcatccatatGttcaaattcaaactcatcca	12	12	4	13	0	4	0	4	0	0	0	7	0	7	0	3	1	2	3	3	1	3	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:80749976G>C	ENST00000369798.2	+	20	2482	c.2371G>C	c.(2371-2373)Gtt>Ctt	p.V791L	TTK_ENST00000509894.1_Missense_Mutation_p.V790L|TTK_ENST00000230510.3_Missense_Mutation_p.V790L	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	791	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TCATCCATATGTTCAAATTCA	0.308																																																	0													60	66	64					6																	80749976		2201	4294	6495	SO:0001583	missense	0				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.2371G>C	6.37:g.80749976G>C	ENSP00000358813:p.Val791Leu		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V791L	ENST00000369798.2	37	c.2371	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	G	6.255	0.415097	0.11870	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.67345	-0.26;-0.26;-0.26	5.32	4.45	0.53987	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138494	0.49916	D	0.000126	T	0.30854	0.0778	N	0.11313	0.125	0.41765	D	0.98973	B;B	0.30526	0.283;0.063	B;B	0.40009	0.316;0.069	T	0.22730	-1.0208	10	0.08381	T	0.77	.	11.4818	0.50331	0.0838:0.0:0.9162:0.0	.	791;790	P33981;A8K8U5	TTK_HUMAN;.	L	790;790;791	ENSP00000422936:V790L;ENSP00000230510:V790L;ENSP00000358813:V791L	ENSP00000230510:V790L	V	+	1	0	TTK	80806695	1.000000	0.71417	0.974000	0.42286	0.471000	0.32888	4.988000	0.63863	1.241000	0.43820	0.591000	0.81541	GTT	TTK	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000112742		0.308	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	-	0	136	0	G			80749976	1	tier1	-	no_errors	ENST00000369798	ensembl	human	known	74_37	missense	9.76	74	8	SNP	1.000	C	C	80749976	G	C	80749976	3	2	157	1	0	0	0	0	1	0	0	0	16769	1377	48	5	2445	5	TTK	6	80749976	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	47608279	80749976	90365091	78	39936											
FAM46A	55603	genome.wustl.edu	37	chr6	82461728	82461742	+	In_Frame_Del	DEL	CCGCCGAAGTCGCCG	CCGCCGAAGTCGCCG	-																															gcccaccgaagctgccgccaCcgccgaagtcgccgccgccg																								rs375746695	byFrequency	TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	CCGCCGAAGTCGCCG	CCGCCGAAGTCGCCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:82461728_82461742delCCGCCGAAGTCGCCG	ENST00000320172.6	-	2	431_445	c.117_131delCGGCGACTTCGGCGG	c.(115-132)ggcggcgacttcggcggt>ggt	p.39_44GGDFGG>G	FAM46A_ENST00000369756.3_In_Frame_Del_p.120_125GGDFGG>G|FAM46A_ENST00000369754.3_In_Frame_Del_p.58_63GGDFGG>G	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	39			Missing. {ECO:0000269|PubMed:12054608, ECO:0000269|PubMed:16545789}.		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)		gctgccgccaccgccgaagtcgccgccgccgaagt	0.67																																																	0																																										SO:0001651	inframe_deletion	0			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.117_131delCGGCGACTTCGGCGG	6.37:g.82461728_82461742delCCGCCGAAGTCGCCG	ENSP00000318298:p.Gly39_Gly43del		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	In_Frame_Del	DEL	pfam_DUF1693	p.DFGGG60in_frame_del	ENST00000320172.6	37	c.188_174	CCDS34489.1	6																																																																																			FAM46A	-	NULL	ENSG00000112773		0.67	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM46A	HGNC	protein_coding	OTTHUMT00000041331.1		0	8	0	CCGCCGAAGTCGCCG			82461742	-1			no_errors	ENST00000369754	ensembl	human	known	74_37	in_frame_del	25.00	6	2	DEL	0.610:0.584:0.613:0.651:0.551:0.194:0.094:0.019:0.005:0.001:0.002:0.002:0.002:0.002:0.008	0	-	82461742	CCGCCGAAGTCGCCG	-	82461728	7	5	157	1	0	1	0	1	0	0	0	0	5587	507	18	0	1205	0	FAM46A	6	82461728	In_Frame_Del	DEL	CCGCCGAAGTCGCCG	TCGA-V5-A7RE-01A-11D-A351-09	1711752	82461728	88653339	79	39937											
USP45	85015	genome.wustl.edu	37	chr6	99936085	99936085	+	Silent	SNP	G	G	A	0	0	1	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	ttattactcaccagctgagaGtctgaggaaggaaaaatctt	14	11	9	7	0	3	2	1	2	2	1	3	5	3	4	1	2	2	1	1	2	5	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:99936085G>A	ENST00000327681.6	-	7	1237	c.705C>T	c.(703-705)gaC>gaT	p.D235D	USP45_ENST00000329966.6_Silent_p.D235D|USP45_ENST00000369233.2_Silent_p.D235D|USP45_ENST00000500704.2_Silent_p.D235D|USP45_ENST00000392738.2_Missense_Mutation_p.T17I|USP45_ENST00000472914.2_Silent_p.D235D	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	235	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)		CCAGCTGAGAGTCTGAGGAAG	0.358																																																	0													70	65	67					6																	99936085		2203	4300	6503	SO:0001819	synonymous_variant	0			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.705C>T	6.37:g.99936085G>A			B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.T17I	ENST00000327681.6	37	c.50	CCDS34501.1	6	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624559	0.28889	.	.	ENSG00000123552	ENST00000392738	T	0.26518	1.73	4.85	2.68	0.31781	.	.	.	.	.	T	0.06600	0.0169	.	.	.	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.12426	-1.0548	8	0.39692	T	0.17	.	4.2843	0.10848	0.388:0.0:0.4628:0.1492	.	17	Q70EL2-3	.	I	17	ENSP00000376495:T17I	ENSP00000376495:T17I	T	-	2	0	USP45	100042806	0.012000	0.17670	0.997000	0.53966	0.981000	0.71138	-0.701000	0.05075	0.369000	0.24510	0.591000	0.81541	ACT	USP45	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000123552		0.358	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP45	HGNC	protein_coding	OTTHUMT00000041609.2	-	0	68	0	G	NM_032929		99936085	-1	tier1	-	no_errors	ENST00000392738	ensembl	human	known	74_37	missense	51.67	29	31	SNP	0.979	A	A	99936085	G	A	99936085	2	1	157	1	0	0	0	0	0	0	0	1	17125	1020	36	3		3	USP45	6	99936085	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	17474357	99936085	71178982	80	39938											
WASF1	8936	genome.wustl.edu	37	chr6	110429777	110429777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaggctgttcacaaacatCgtacgtctcctgtaatggaa	11	11	10	9	2	2	0	1	0	1	0	4	2	2	2	1	3	2	4	1	3	4	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:110429777C>T	ENST00000392589.1	-	6	1212	c.376G>A	c.(376-378)Gat>Aat	p.D126N	WASF1_ENST00000392588.1_Missense_Mutation_p.D126N|WASF1_ENST00000392586.1_Missense_Mutation_p.D126N|WASF1_ENST00000392587.2_Missense_Mutation_p.D126N|WASF1_ENST00000359451.2_Missense_Mutation_p.D126N	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	126					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TCACAAACATCGTACGTCTCC	0.393																																																	0													115	107	110					6																	110429777		2203	4300	6503	SO:0001583	missense	0			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"A-kinase anchor proteins"	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.376G>A	6.37:g.110429777C>T	ENSP00000376368:p.Asp126Asn		E1P5F2|Q5SZK7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.D126N	ENST00000392589.1	37	c.376	CCDS5080.1	6	.	.	.	.	.	.	.	.	.	.	C	9.801	1.180515	0.21787	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451;ENST00000444391;ENST00000265601;ENST00000368938	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	6.06	5.03	0.67393	.	0.252874	0.46442	D	0.000298	T	0.07052	0.0179	N	0.00771	-1.2	0.39326	D	0.965334	B	0.06786	0.001	B	0.01281	0.0	T	0.22556	-1.0213	10	0.13853	T	0.58	.	16.2639	0.82565	0.0:0.9269:0.0:0.0731	.	126	Q92558	WASF1_HUMAN	N	126	ENSP00000376365:D126N;ENSP00000376366:D126N;ENSP00000376368:D126N;ENSP00000376367:D126N;ENSP00000352425:D126N;ENSP00000407041:D126N;ENSP00000265601:D126N;ENSP00000357934:D126N	ENSP00000265601:D126N	D	-	1	0	WASF1	110536470	0.992000	0.36948	0.987000	0.45799	0.976000	0.68499	2.428000	0.44749	2.880000	0.98712	0.650000	0.86243	GAT	WASF1	-	NULL	ENSG00000112290		0.393	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3	-	0	70	0	C	NM_003931		110429777	-1	tier1	-	no_errors	ENST00000359451	ensembl	human	known	74_37	missense	22.08	60	17	SNP	0.977	T	T	110429777	C	T	110429777	3	4	157	1	0	0	0	0	1	0	0	0	17301	884	31	1	1327	1	WASF1	6	110429777	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	10493692	110429777	60685290	81	39939											
REV3L	5980	genome.wustl.edu	37	chr6	111694948	111694948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttgtgctttctgctgtCttttttgtaacaattctttt	5	24	5	7	0	3	0	0	0	3	0	3	0	3	0	0	0	3	3	0	0	2	10			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:111694948C>A	ENST00000358835.3	-	14	5064	c.4610G>T	c.(4609-4611)aGa>aTa	p.R1537I	REV3L_ENST00000435970.1_Missense_Mutation_p.R1459I|REV3L_ENST00000368802.3_Missense_Mutation_p.R1537I|REV3L_ENST00000368805.1_Missense_Mutation_p.R1537I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1537					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)		TTTCTGCTGTCTTTTTTGTAA	0.358								DNA polymerases (catalytic subunits)																																									0													205	209	208					6																	111694948		2203	4300	6503	SO:0001583	missense	0			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.4610G>T	6.37:g.111694948C>A	ENSP00000351697:p.Arg1537Ile		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.R1537I	ENST00000358835.3	37	c.4610	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677465	0.68042	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.02158	4.51;4.51;4.51;4.42	6.04	6.04	0.98038	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000003	T	0.05273	0.0140	L	0.59436	1.845	0.58432	D	0.999999	D	0.76494	0.999	P	0.62649	0.905	T	0.11792	-1.0573	10	0.72032	D	0.01	-7.8585	13.7479	0.62887	0.0:0.9302:0.0:0.0698	.	1537	O60673	DPOLZ_HUMAN	I	1537;1537;1537;1459	ENSP00000357792:R1537I;ENSP00000357795:R1537I;ENSP00000351697:R1537I;ENSP00000402003:R1459I	ENSP00000351697:R1537I	R	-	2	0	REV3L	111801641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.270000	0.51600	2.873000	0.98535	0.563000	0.77884	AGA	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.358	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0	56	0	C	NM_002912		111694948	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	14.71	58	10	SNP	1.000	A	A	111694948	C	A	111694948	3	1	157	1	0	0	0	0	1	0	0	0	13285	913	32	3	4862	3	REV3L	6	111694948	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	1265171	111694948	59420119	82	39940											
EPB41L2	2037	genome.wustl.edu	37	chr6	131215506	131215506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtagaaagtatgatgctccaCgcacactttccatagtcttt	11	13	7	10	1	1	2	0	1	1	1	3	2	3	2	2	0	1	4	2	0	4	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:131215506C>T	ENST00000337057.3	-	10	1646	c.1465G>A	c.(1465-1467)Gtg>Atg	p.V489M	EPB41L2_ENST00000527659.1_Missense_Mutation_p.V489M|EPB41L2_ENST00000445890.2_Missense_Mutation_p.V489M|EPB41L2_ENST00000528282.1_Missense_Mutation_p.V489M|EPB41L2_ENST00000525271.1_Missense_Mutation_p.V489M|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V489M|EPB41L2_ENST00000368128.2_Missense_Mutation_p.V489M|EPB41L2_ENST00000525193.1_Missense_Mutation_p.V489M|EPB41L2_ENST00000392427.3_Missense_Mutation_p.V489M|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V489M|EPB41L2_ENST00000530481.1_Missense_Mutation_p.V489M	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	489	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)		TGATGCTCCACGCACACTTTC	0.468																																																	0													156	152	153					6																	131215506		2203	4300	6503	SO:0001583	missense	0			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.1465G>A	6.37:g.131215506C>T	ENSP00000338481:p.Val489Met		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain	p.V489M	ENST00000337057.3	37	c.1465	CCDS5141.1	6	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510178	0.85282	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.44	5.44	0.79542	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	M	0.85945	2.785	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.994;0.996;1.0;0.996	D	0.95170	0.8289	10	0.87932	D	0	.	19.263	0.93975	0.0:1.0:0.0:0.0	.	489;489;489;489;489	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	M	489	ENSP00000434308:V489M;ENSP00000434576:V489M;ENSP00000402041:V489M;ENSP00000338481:V489M;ENSP00000376222:V489M;ENSP00000357110:V489M;ENSP00000436348:V489M;ENSP00000432803:V489M;ENSP00000431988:V489M;ENSP00000431647:V489M;ENSP00000436641:V489M	ENSP00000338481:V489M	V	-	1	0	EPB41L2	131257199	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.042000	0.70996	2.545000	0.85829	0.655000	0.94253	GTG	EPB41L2	-	pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain	ENSG00000079819		0.468	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3	-	0	34	0	C			131215506	-1	tier1	-	no_errors	ENST00000337057	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	T	T	131215506	C	T	131215506	3	4	157	1	0	0	0	0	1	0	0	0	5169	536	19	1	1592	1	EPB41L2	6	131215506	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	19520558	131215506	39899561	83	39941											
GPR126	57211	genome.wustl.edu	37	chr6	142715055	142715055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcacctgagtgctggagagGacaagattaaagtcaagaga	15	8	12	6	0	2	4	2	1	0	3	2	7	2	5	1	2	1	1	1	2	4	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:142715055G>T	ENST00000230173.6	+	9	1860	c.1384G>T	c.(1384-1386)Gac>Tac	p.D462Y	GPR126_ENST00000367608.2_Missense_Mutation_p.D434Y|GPR126_ENST00000296932.8_Missense_Mutation_p.D434Y|GPR126_ENST00000367609.3_Missense_Mutation_p.D462Y	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	462					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)		TGCTGGAGAGGACAAGATTAA	0.358																																																	0													114	103	106					6																	142715055		1843	4101	5944	SO:0001583	missense	0			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.1384G>T	6.37:g.142715055G>T	ENSP00000230173:p.Asp462Tyr		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D462Y	ENST00000230173.6	37	c.1384	CCDS47490.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.011596|4.011596	0.75046|0.75046	.|.	.|.	ENSG00000112414|ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609|ENST00000508295	T;T;T;T|.	0.63096|.	-0.02;-0.02;-0.02;-0.02|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.282732|.	0.30602|.	N|.	0.009267|.	T|T	0.52256|0.52256	0.1723|0.1723	L|L	0.47716|0.47716	1.5|1.5	0.35036|0.35036	D|D	0.759268|0.759268	B;D;B;P|.	0.53885|.	0.016;0.963;0.065;0.89|.	B;P;B;B|.	0.53809|.	0.019;0.735;0.031;0.223|.	T|T	0.52487|0.52487	-0.8569|-0.8569	10|5	0.72032|.	D|.	0.01|.	.|.	16.0869|16.0869	0.81060|0.81060	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	434;462;434;462|.	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4|.	.;.;.;GP126_HUMAN|.	Y|S	462;434;434;462|36	ENSP00000230173:D462Y;ENSP00000356580:D434Y;ENSP00000296932:D434Y;ENSP00000356581:D462Y|.	ENSP00000230173:D462Y|.	D|R	+|+	1|3	0|2	GPR126|GPR126	142756748|142756748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.865000|0.865000	0.49528|0.49528	4.643000|4.643000	0.61390|0.61390	2.587000|2.587000	0.87381|0.87381	0.591000|0.591000	0.81541|0.81541	GAC|AGG	GPR126	-	NULL	ENSG00000112414		0.358	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	-	0	45	0	G			142715055	1	tier1	-	no_errors	ENST00000367609	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	T	T	142715055	G	T	142715055	3	4	157	1	0	0	0	0	1	0	0	0	6666	1174	41	3	1418	3	GPR126	6	142715055	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	11499549	142715055	28400012	84	39942											
AKAP12	9590	genome.wustl.edu	37	chr6	151626944	151626944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgagcaagatgagctcagCctccaggagggtgacctaaa	12	6	13	10	0	1	4	1	3	0	1	2	5	2	5	3	2	3	3	3	2	3	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr6:151626944C>T	ENST00000253332.1	+	2	414	c.225C>T	c.(223-225)agC>agT	p.S75S	AKAP12_ENST00000402676.2_Silent_p.S75S			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	75					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)		ATGAGCTCAGCCTCCAGGAGG	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)												0													66	59	62					6																	151626944		2203	4300	6503	SO:0001819	synonymous_variant	0			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.225C>T	6.37:g.151626944C>T			O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.S75	ENST00000253332.1	37	c.225	CCDS5229.1	6																																																																																			AKAP12	-	NULL	ENSG00000131016		0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	-	0	50	0	C			151626944	1	tier1	-	no_errors	ENST00000253332	ensembl	human	known	74_37	silent	17.07	34	7	SNP	0.142	T	T	151626944	C	T	151626944	2	4	157	1	0	0	0	0	0	0	0	1	448	738	26	3		3	AKAP12	6	151626944	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	8911889	151626944	19488123	85	39943											
EVX1	2128	genome.wustl.edu	37	chr7	27282878	27282878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatggactcgcaggcagcGcggcggggccgggcgccgag	6	3	20	12	7	0	1	0	0	0	1	1	3	0	2	2	6	1	2	2	6	1	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr7:27282878G>A	ENST00000496902.4	+	1	715	c.229G>A	c.(229-231)Gcg>Acg	p.A77T	EVX1-AS_ENST00000519050.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000222761.3_Missense_Mutation_p.A77T|EVX1_ENST00000535619.1_5'Flank|EVX1-AS_ENST00000517726.1_RNA|RP1-170O19.17_ENST00000523608.2_lincRNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	77					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGCAGGCAgcgcggcggggcc	0.786																																																	0													2	3	3					7																	27282878		1476	3198	4674	SO:0001583	missense	0				CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"Homeoboxes / ANTP class : HOXL subclass"	3506	protein-coding gene	gene with protein product		142996	"eve, even-skipped homeobox homolog 1 (Drosophila)"			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.229G>A	7.37:g.27282878G>A	ENSP00000419266:p.Ala77Thr		A4D199|B4DQJ0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A77T	ENST00000496902.4	37	c.229	CCDS5413.1	7	.	.	.	.	.	.	.	.	.	.	G	8.721	0.914242	0.17907	.	.	ENSG00000106038	ENST00000496902;ENST00000222761	D	0.91407	-2.84	5.03	3.2	0.36748	.	0.393883	0.28241	N	0.016061	D	0.82444	0.5038	L	0.44542	1.39	0.80722	D	1	B;B	0.34313	0.448;0.0	B;B	0.25405	0.06;0.0	T	0.74309	-0.3707	10	0.14252	T	0.57	-8.4316	9.6259	0.39750	0.0744:0.0:0.7841:0.1416	.	77;77	F8W9J5;P49640	.;EVX1_HUMAN	T	77	ENSP00000419266:A77T	ENSP00000222761:A77T	A	+	1	0	EVX1	27249403	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	3.275000	0.51639	0.510000	0.28216	0.462000	0.41574	GCG	EVX1	-	NULL	ENSG00000106038		0.786	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVX1	HGNC	protein_coding	OTTHUMT00000358750.3	-	0	19	0	G			27282878	1	tier1	-	no_errors	ENST00000496902	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.878	A	A	27282878	G	A	27282878	3	1	157	1	0	0	0	0	1	0	0	0	5310	1087	38	1	231	1	EVX1	7	27282878	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09		27282878	131855785	86	39944											
COBL	23242	genome.wustl.edu	37	chr7	51258724	51258724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaacctcagggctcacacGcacaacagctttttgtgtcc	10	9	9	13	1	2	0	2	0	0	0	3	1	3	1	2	2	3	3	2	2	2	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr7:51258724G>A	ENST00000265136.7	-	4	673	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C	COBL_ENST00000441453.1_Missense_Mutation_p.R170C|COBL_ENST00000395540.2_Missense_Mutation_p.R170C|COBL_ENST00000395542.2_Missense_Mutation_p.R170C	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	170					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.R170C(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGGCTCACACGCACAACAGCT	0.483																																					NSCLC(189;2119 2138 12223 30818 34679)												1	Substitution - Missense(1)	lung(1)											57	53	55					7																	51258724		2203	4300	6503	SO:0001583	missense	0			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.508C>T	7.37:g.51258724G>A	ENSP00000265136:p.Arg170Cys		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R170C	ENST00000265136.7	37	c.508	CCDS34637.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.475577|4.475577	0.84640|0.84640	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000452534|ENST00000265136;ENST00000445054;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281	.|T;T;T;T;T	.|0.44881	.|0.91;1.92;0.91;0.91;0.91	5.78|5.78	4.88|4.88	0.63580|0.63580	.|Cordon-bleu domain (1);	.|0.000000	.|0.43416	.|D	.|0.000580	T|T	0.66376|0.66376	0.2783|0.2783	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.994;0.99;0.994;1.0;0.997	T|T	0.71842|0.71842	-0.4470|-0.4470	5|10	.|0.87932	.|D	.|0	.|.	12.9468|12.9468	0.58376|0.58376	0.0:0.0:0.7054:0.2946|0.0:0.0:0.7054:0.2946	.|.	.|170;170;170;170;170	.|O75128-3;O75128-5;O75128-7;O75128;O75128-2	.|.;.;.;COBL_HUMAN;.	V|C	88|170;37;170;170;170;154	.|ENSP00000265136:R170C;ENSP00000401204:R37C;ENSP00000378912:R170C;ENSP00000378910:R170C;ENSP00000399500:R170C	.|ENSP00000265136:R170C	A|R	-|-	2|1	0|0	COBL|COBL	51226218|51226218	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.976000|0.976000	0.68499|0.68499	5.201000|5.201000	0.65163|0.65163	1.407000|1.407000	0.46875|0.46875	0.557000|0.557000	0.71058|0.71058	GCG|CGT	COBL	-	pfam_Cordon-bleu_ubiquitin_domain	ENSG00000106078		0.483	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1		0	22	0	G	NM_015198		51258724	-1			no_errors	ENST00000395542	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	51258724	G	A	51258724	3	1	157	1	0	0	0	0	1	0	0	0	3660	1087	38	1	3317	1	COBL	7	51258724	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	23975846	51258724	107879939	87	39945											
ZNF92	168374	genome.wustl.edu	37	chr7	64864193	64864193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccttactaaacataaaaGaattcatacgggagaaaaac	21	7	5	8	1	1	2	1	0	0	2	1	3	1	2	1	1	5	0	1	1	10	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr7:64864193G>T	ENST00000328747.7	+	4	1365	c.1166G>T	c.(1165-1167)aGa>aTa	p.R389I	ZNF92_ENST00000357512.2_Missense_Mutation_p.R357I|ZNF92_ENST00000431504.1_Missense_Mutation_p.R313I|ZNF92_ENST00000450302.2_Missense_Mutation_p.R320I	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	389					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R389I(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				AAACATAAAAGAATTCATACG	0.363																																																	1	Substitution - Missense(1)	large_intestine(1)											36	41	39					7																	64864193		2196	4294	6490	SO:0001583	missense	0			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1166G>T	7.37:g.64864193G>T	ENSP00000332595:p.Arg389Ile		A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R389I	ENST00000328747.7	37	c.1166	CCDS34646.1	7	.	.	.	.	.	.	.	.	.	.	G	4.401	0.074165	0.08485	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.02446	4.29;4.29;4.29;4.29	0.418	-0.581	0.11713	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	M	0.69823	2.125	0.43242	D	0.995156	B;B	0.11235	0.001;0.004	B;B	0.12837	0.002;0.008	T	0.29274	-1.0017	9	0.42905	T	0.14	.	4.6192	0.12442	0.3005:0.0:0.6995:0.0	.	357;389	Q03936-3;Q03936	.;ZNF92_HUMAN	I	389;313;357;320	ENSP00000332595:R389I;ENSP00000400495:R313I;ENSP00000350113:R357I;ENSP00000396126:R320I	ENSP00000332595:R389I	R	+	2	0	ZNF92	64501628	0.000000	0.05858	0.220000	0.23810	0.211000	0.24417	-0.064000	0.11636	-0.396000	0.07703	-0.384000	0.06662	AGA	ZNF92	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000146757		0.363	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF92	HGNC	protein_coding	OTTHUMT00000344589.2		0	46	0	G	NM_152626		64864193	1			no_errors	ENST00000328747	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.885	T	T	64864193	G	T	64864193	3	4	157	1	0	0	0	0	1	0	0	0	18249	942	33	3	1180	3	ZNF92	7	64864193	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	13605469	64864193	94274470	88	39946											
SRRM3	222183	genome.wustl.edu	37	chr7	75915066	75915066	+	3'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacgggagctacagcagtcGcagccatgggacccgcagcc	9	3	13	16	3	0	0	0	0	0	0	1	2	0	2	4	2	5	4	4	2	1	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr7:75915066G>A	ENST00000326382.8	+	0	2074				SRRM3_ENST00000388802.4_Missense_Mutation_p.R623H	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						TACAGCAGTCGCAGCCATGGG	0.701																																																	0													8	16	14					7																	75915066		1319	3058	4377	SO:0001624	3_prime_UTR_variant	0			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.*73G>A	7.37:g.75915066G>A			A6ND75	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R623H	ENST00000326382.8	37	c.1868		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.31|10.31	1.316048|1.316048	0.23908|0.23908	.|.	.|.	ENSG00000177679|ENSG00000177679	ENST00000413003|ENST00000388802	.|.	.|.	.|.	4.1|4.1	4.1|4.1	0.47936|0.47936	.|.	.|0.000000	.|0.41823	.|D	.|0.000810	T|T	0.77638|0.77638	0.4160|0.4160	.|.	.|.	.|.	0.38195|0.38195	D|D	0.940014|0.940014	.|D	.|0.76494	.|0.999	.|D	.|0.78314	.|0.991	T|T	0.81949|0.81949	-0.0699|-0.0699	4|8	.|0.52906	.|T	.|0.07	.|.	15.049|15.049	0.71850|0.71850	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|623	.|F5GYC8	.|.	T|H	204|623	.|.	.|ENSP00000373454:R623H	A|R	+|+	1|2	0|0	SRRM3|SRRM3	75753002|75753002	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.175000|0.175000	0.22909|0.22909	4.420000|4.420000	0.59841|0.59841	2.127000|2.127000	0.65507|0.65507	0.462000|0.462000	0.41574|0.41574	GCA|CGC	SRRM3	-	NULL	ENSG00000177679		0.701	SRRM3-001	KNOWN	basic	protein_coding	SRRM3	HGNC	protein_coding	OTTHUMT00000252889.2		0	31	0	G	NM_001110199		75915066	1			no_errors	ENST00000388802	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A	A	75915066	G	A	75915066	1	1	157	0	1	0	0	0	0	0	0	0	15217	1087	38	1		1	SRRM3	7	75915066	3'UTR	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	11050873	75915066	83223597	89	39947											
ADAM22	53616	genome.wustl.edu	37	chr7	87795159	87795159	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcaggtttgcagtaatGagctgaagtgtgtgtgtaac	10	13	13	5	0	1	2	1	2	1	0	2	3	1	2	0	1	3	5	0	1	3	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr7:87795159G>T	ENST00000265727.7	+	24	2168	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	ADAM22_ENST00000398204.4_Nonsense_Mutation_p.E697*|ADAM22_ENST00000398209.3_Nonsense_Mutation_p.E697*|ADAM22_ENST00000398201.4_Nonsense_Mutation_p.E697*|ADAM22_ENST00000315984.7_Nonsense_Mutation_p.E697*			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	697	EGF-like.				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)			TTGCAGTAATGAGCTGAAGTG	0.378																																																	0													128	119	122					7																	87795159		1897	4114	6011	SO:0001587	stop_gained	0			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.2089G>T	7.37:g.87795159G>T	ENSP00000265727:p.Glu697*		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.E697*	ENST00000265727.7	37	c.2089	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	G	42	9.755375	0.99256	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	.	.	.	5.58	5.58	0.84498	.	0.049165	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.6828	0.91553	0.0:0.0:1.0:0.0	.	.	.	.	X	697;697;697;697;697;664;55	.	ENSP00000265727:E697X	E	+	1	0	ADAM22	87633095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.756000	0.91651	2.782000	0.95742	0.650000	0.86243	GAG	ADAM22	-	NULL	ENSG00000008277		0.378	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	-	0	52	0	G	NM_021723		87795159	1	tier1	-	no_errors	ENST00000265727	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	87795159	G	T	87795159	4	4	157	1	0	0	0	0	0	1	0	0	244	1291	45	3	2183	3	ADAM22	7	87795159	Nonsense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	11880093	87795159	71343504	90	39948											
C7orf51	222950	genome.wustl.edu	37	chr7	100084483	100084483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctggctcggctgggccCgcggccggccaggggcctgg	1	4	19	17	5	0	0	0	0	0	0	1	0	0	0	5	8	0	3	5	8	0	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr7:100084483C>T	ENST00000300179.2	+	3	267	c.108C>T	c.(106-108)ccC>ccT	p.P36P	NYAP1_ENST00000423930.1_Silent_p.P36P|NYAP1_ENST00000454988.1_5'Flank	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	36					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CGGCTGGGCCCGCGGCCGGCC	0.711																																																	0													2	3	3					7																	100084483		1482	3259	4741	SO:0001819	synonymous_variant	0			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.108C>T	7.37:g.100084483C>T			Q6U9Y3|Q8N1V0	Silent	SNP	NULL	p.P36	ENST00000300179.2	37	c.108	CCDS5696.1	7																																																																																			NYAP1	-	NULL	ENSG00000166924		0.711	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NYAP1	HGNC	protein_coding	OTTHUMT00000339335.2	-	0	24	0	C	NM_173564		100084483	1	tier1	-	no_errors	ENST00000423930	ensembl	human	known	74_37	silent	54.90	23	28	SNP	0.984	T	T	100084483	C	T	100084483	2	4	157	1	0	0	0	0	0	0	0	1	2407	639	23	1		1	C7orf51	7	100084483	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	12289324	100084483	59054180	91	39949											
SRRT	51593	genome.wustl.edu	37	chr7	100478977	100478977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccggaatcggcgagagcGcttctcgccacctcgccacg	7	6	12	16	7	1	2	0	1	1	1	4	4	1	3	4	2	1	1	4	2	1	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr7:100478977G>A	ENST00000347433.4	+	3	352	c.194G>A	c.(193-195)cGc>cAc	p.R65H	SRRT_ENST00000388793.4_Missense_Mutation_p.R65H|SRRT_ENST00000457580.2_Missense_Mutation_p.R65H|SRRT_ENST00000432932.1_Missense_Mutation_p.R65H			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	65	Arg-rich.				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)	p.R65H(1)		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						CGGCGAGAGCGCTTCTCGCCA	0.582																																																	1	Substitution - Missense(1)	endometrium(1)											64	59	61					7																	100478977		2203	4300	6503	SO:0001583	missense	0				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.194G>A	7.37:g.100478977G>A	ENSP00000314491:p.Arg65His		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.R65H	ENST00000347433.4	37	c.194	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891118	0.72524	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000431645	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.995	P;P;P;P	0.56343	0.796;0.796;0.796;0.63	T	0.76841	-0.2810	9	0.72032	D	0.01	.	16.6233	0.84935	0.0:0.0:1.0:0.0	.	65;65;65;65	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	H	65;65;65;65;72	.	ENSP00000314491:R65H	R	+	2	0	SRRT	100316913	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.732000	0.74790	2.512000	0.84698	0.650000	0.86243	CGC	SRRT	-	NULL	ENSG00000087087		0.582	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1		0	18	0	G	NM_015908		100478977	1			no_errors	ENST00000388793	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	100478977	G	A	100478977	3	1	157	1	0	0	0	0	1	0	0	0	15219	1087	38	1	200	1	SRRT	7	100478977	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	394494	100478977	58659686	92	39950											
PLOD3	8985	genome.wustl.edu	37	chr7	100855170	100855170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtctgcaggttggtgaGgacagcgtcggcgtccaggc	6	7	18	10	3	1	1	0	1	1	0	3	2	2	2	1	6	2	2	1	6	0	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr7:100855170G>T	ENST00000223127.3	-	11	1587	c.1189C>A	c.(1189-1191)Ctc>Atc	p.L397I		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	397					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	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 galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGGTTGGTGAGGACAGCGTCG	0.667																																																	0													45	39	41					7																	100855170		2203	4300	6503	SO:0001583	missense	0			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1189C>A	7.37:g.100855170G>T	ENSP00000223127:p.Leu397Ile		B2R6W6|Q540C3	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.L397I	ENST00000223127.3	37	c.1189	CCDS5715.1	7	.	.	.	.	.	.	.	.	.	.	G	5.363	0.252291	0.10185	.	.	ENSG00000106397	ENST00000223127	D	0.86030	-2.06	4.26	0.646	0.17789	.	0.185316	0.31673	N	0.007248	T	0.74114	0.3674	L	0.47016	1.485	0.34160	D	0.668573	B	0.18166	0.026	B	0.21151	0.033	T	0.62817	-0.6774	10	0.30078	T	0.28	-0.0414	2.2825	0.04118	0.1313:0.1231:0.4665:0.2791	.	397	O60568	PLOD3_HUMAN	I	397	ENSP00000223127:L397I	ENSP00000223127:L397I	L	-	1	0	PLOD3	100641890	0.208000	0.23494	0.650000	0.29550	0.062000	0.15995	0.457000	0.21875	0.185000	0.20105	0.456000	0.33151	CTC	PLOD3	-	NULL	ENSG00000106397		0.667	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLOD3	HGNC	protein_coding	OTTHUMT00000347470.1		0	59	0	G			100855170	-1			no_errors	ENST00000223127	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.808	T	T	100855170	G	T	100855170	3	4	157	1	0	0	0	0	1	0	0	0	12142	1000	35	3	1063	3	PLOD3	7	100855170	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	376193	100855170	58283493	93	39951											
SLC26A5	375611	genome.wustl.edu	37	chr7	103029515	103029515	+	Missense_Mutation	SNP	T	T	C	0	1	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	cagcagtgatcaaaccatagTccaatcccaggaacaaggag	16	5	9	11	0	1	1	1	1	0	0	3	3	3	3	3	2	3	1	3	2	5	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr7:103029515T>C	ENST00000306312.3	-	14	1715	c.1454A>G	c.(1453-1455)gAc>gGc	p.D485G	SLC26A5_ENST00000393723.1_Missense_Mutation_p.D453G|SLC26A5_ENST00000393729.1_Missense_Mutation_p.D448G|SLC26A5_ENST00000393727.1_Missense_Mutation_p.D485G|SLC26A5_ENST00000339444.6_Missense_Mutation_p.D485G|SLC26A5_ENST00000393735.2_Missense_Mutation_p.D485G|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000432958.2_Missense_Mutation_p.D453G|SLC26A5_ENST00000393730.1_Missense_Mutation_p.D453G	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	485					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						CAAACCATAGTCCAATCCCAG	0.463																																																	0													146	111	123					7																	103029515		2203	4300	6503	SO:0001583	missense	0			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.1454A>G	7.37:g.103029515T>C	ENSP00000304783:p.Asp485Gly		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.D485G	ENST00000306312.3	37	c.1454	CCDS5733.1	7	.	.	.	.	.	.	.	.	.	.	T	29.9	5.045115	0.93685	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.94232	-3.22;-3.26;-3.26;-3.38;-3.38;-3.15;-3.25;-3.38	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	M	0.78916	2.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.999	D	0.96493	0.9365	10	0.52906	T	0.07	.	14.9906	0.71384	0.0:0.0:0.0:1.0	.	485;453;485;485	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	G	485;485;485;453;453;448;485;453	ENSP00000342396:D485G;ENSP00000377336:D485G;ENSP00000304783:D485G;ENSP00000377331:D453G;ENSP00000389733:D453G;ENSP00000377330:D448G;ENSP00000377328:D485G;ENSP00000377324:D453G	ENSP00000304783:D485G	D	-	2	0	SLC26A5	102816751	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.338000	0.79269	2.014000	0.59158	0.455000	0.32223	GAC	SLC26A5	-	tigrfam_SulP_transpt	ENSG00000170615		0.463	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A5	HGNC	protein_coding	OTTHUMT00000313860.1	-	0	37	0	T	NM_198999		103029515	-1	tier1	-	no_errors	ENST00000306312	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	C	C	103029515	T	C	103029515	3	2	157	1	0	0	0	0	1	0	0	0	14565	1667	58	4	849	4	SLC26A5	7	103029515	Missense_Mutation	SNP	T	TCGA-V5-A7RE-01A-11D-A351-09	2174345	103029515	56109148	94	39952											
MKRN1	23608	genome.wustl.edu	37	chr7	140158882	140158882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtcacaagaatctccGtggagatacacacagttctc	13	9	7	12	1	3	2	1	0	2	2	5	3	3	2	1	1	1	1	1	1	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr7:140158882G>A	ENST00000255977.2	-	4	920	c.696C>T	c.(694-696)caC>caT	p.H232H	MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000443720.2_Silent_p.H232H|MKRN1_ENST00000474576.1_Silent_p.H168H	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	232					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					AAGAATCTCCGTGGAGATACA	0.522																																																	0													119	115	116					7																	140158882		2203	4300	6503	SO:0001819	synonymous_variant	0			AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.696C>T	7.37:g.140158882G>A			A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Silent	SNP	pfam_Znf_CCCH,pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.H232	ENST00000255977.2	37	c.696	CCDS5860.1	7																																																																																			MKRN1	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000133606		0.522	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN1	HGNC	protein_coding	OTTHUMT00000348752.1	-	0	18	0	G	NM_013446		140158882	-1	tier1	-	no_errors	ENST00000255977	ensembl	human	known	74_37	silent	42.11	11	8	SNP	1.000	A	A	140158882	G	A	140158882	2	1	157	1	0	0	0	0	0	0	0	1	9644	1136	40	1		1	MKRN1	7	140158882	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	37129367	140158882	18979781	95	39953											
MGAM	8972	genome.wustl.edu	37	chr7	141739972	141739972	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggtatgactacgagactGtaagtagctttgacttttct	9	16	9	7	1	2	3	0	2	2	1	2	4	2	3	0	1	2	4	0	1	4	7			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr7:141739972G>T	ENST00000549489.2	+	20	2468		c.e20+1		MGAM_ENST00000475668.2_Splice_Site	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						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)	CTACGAGACTGTAAGTAGCTT	0.428																																																	0													137	133	135					7																	141739972		1936	4140	6076	SO:0001630	splice_region_variant	0			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.2373+1G>T	7.37:g.141739972G>T			Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	-	e19+1	ENST00000549489.2	37	c.2373+1	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787226	0.70337	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9801	0.89138	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGAM	141386441	1.000000	0.71417	0.998000	0.56505	0.765000	0.43378	9.342000	0.97044	2.622000	0.88805	0.655000	0.94253	.	MGAM	-	-	ENSG00000257335		0.428	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3		0	31	0	G		Intron	141739972	1			no_errors	ENST00000549489	ensembl	human	known	74_37	splice_site	7.41	50	4	SNP	1.000	T	T	141739972	G	T	141739972	5	4	157	1	0	0	0	0	0	0	1	0	9579	1391	48	3	2448	3	MGAM	7	141739972	Splice_Site	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	1581090	141739972	17398691	96	39954											
CNTNAP2	26047	genome.wustl.edu	37	chr7	148080841	148080841	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcgcccctctcaaggcCgccttgaggcagacaaacgc	10	5	10	16	3	1	3	1	1	1	2	3	3	1	3	4	2	1	1	4	2	2	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr7:148080841C>T	ENST00000361727.3	+	22	4092	c.3576C>T	c.(3574-3576)gcC>gcT	p.A1192A	CNTNAP2_ENST00000538075.1_Silent_p.A251A|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1192	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCTCAAGGCCGCCTTGAGGC	0.582										HNSCC(39;0.1)																																							0													52	53	52					7																	148080841		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3576C>T	7.37:g.148080841C>T			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.A1192	ENST00000361727.3	37	c.3576	CCDS5889.1	7																																																																																			CNTNAP2	-	pfscan_Laminin_G	ENSG00000174469		0.582	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	-	0	80	0	C			148080841	1	tier1	-	no_errors	ENST00000361727	ensembl	human	known	74_37	silent	46.15	42	36	SNP	0.010	T	T	148080841	C	T	148080841	2	4	157	1	0	0	0	0	0	0	0	1	3654	639	23	1		1	CNTNAP2	7	148080841	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	6340869	148080841	11057822	97	39955											
ARHGEF10	9639	genome.wustl.edu	37	chr8	1905331	1905331	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cgctggtggtctgtggagggCagggccaccgccgggtgcac	4	6	19	12	3	1	0	0	0	1	0	1	1	1	1	3	6	1	3	3	6	0	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr8:1905331C>A	ENST00000398564.1	+	29	4012	c.4012C>A	c.(4012-4014)Cag>Aag	p.Q1338K	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.Q1309K|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.Q1313K|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.Q1275K|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.Q1337K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1338					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CTGTGGAGGGCAGGGCCACCG	0.627																																																	0													19	21	20					8																	1905331		2202	4291	6493	SO:0001583	missense	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.4012C>A	8.37:g.1905331C>A	ENSP00000381571:p.Gln1338Lys		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.Q1338K	ENST00000398564.1	37	c.4012		8	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998310	0.74818	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.58358	0.35;0.42;0.34;0.34;0.37;0.45	5.71	5.71	0.89125	.	0.131397	0.52532	D	0.000067	T	0.56016	0.1957	L	0.45051	1.395	0.80722	D	1	D;B	0.53312	0.959;0.194	P;B	0.48840	0.592;0.09	T	0.51196	-0.8736	10	0.34782	T	0.22	-40.2145	19.8366	0.96659	0.0:1.0:0.0:0.0	.	1275;1313	O15013-7;O15013-5	.;.	K	1313;1275;1337;1338;1309;957	ENSP00000340297:Q1313K;ENSP00000427909:Q1275K;ENSP00000431012:Q1337K;ENSP00000381571:Q1338K;ENSP00000262112:Q1309K;ENSP00000427768:Q957K	ENSP00000262112:Q1309K	Q	+	1	0	ARHGEF10	1892738	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.071000	0.57556	2.673000	0.90976	0.655000	0.94253	CAG	ARHGEF10	-	NULL	ENSG00000104728		0.627	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		-	0	11	0	C			1905331	1	tier1	-	no_errors	ENST00000398564	ensembl	human	known	74_37	missense	50.00	5	5	SNP	1.000	A	A	1905331	C	A	1905331	3	1	157	1	0	0	0	0	1	0	0	0	894	711	25	3	4047	3	ARHGEF10	8	1905331	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09		1905331	144458691	98	39956											
MSR1	4481	genome.wustl.edu	37	chr8	16012634	16012634	+	Silent	SNP	A	A	G	1	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	ggacctcgatctcctttttcAcccgggggtccaggaggacc	6	9	12	14	2	2	0	1	0	1	0	5	4	3	3	5	5	0	0	5	5	0	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr8:16012634A>G	ENST00000262101.5	-	6	958	c.837T>C	c.(835-837)ggT>ggC	p.G279G	MSR1_ENST00000536385.1_Silent_p.G53G|MSR1_ENST00000355282.2_Silent_p.G279G|MSR1_ENST00000381998.4_Silent_p.G279G|MSR1_ENST00000445506.2_Silent_p.G297G|MSR1_ENST00000350896.3_Silent_p.G279G			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	279	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTCCTTTTTCACCCGGGGGTC	0.393																																																	0													59	59	59					8																	16012634		2203	4300	6503	SO:0001819	synonymous_variant	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.837T>C	8.37:g.16012634A>G			D3DSP3|O60505|P21759|Q45F10	Silent	SNP	pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR	p.G279	ENST00000262101.5	37	c.837	CCDS5995.1	8																																																																																			MSR1	-	pfam_Collagen	ENSG00000038945		0.393	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2	-	0	53	0	A			16012634	-1	tier1	-	no_errors	ENST00000262101	ensembl	human	known	74_37	silent	33.33	20	10	SNP	0.996	G	G	16012634	A	G	16012634	2	3	157	1	0	0	0	0	0	0	0	1	9924	146	6	4		4	MSR1	8	16012634	Silent	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	14107303	16012634	130351388	99	39957											
MTUS1	57509	genome.wustl.edu	37	chr8	17507462	17507462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttctagatacatgatctGaggatttttctggaaaggac	11	14	10	6	0	3	3	0	2	3	1	3	6	3	6	0	3	1	1	0	3	3	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr8:17507462G>T	ENST00000262102.6	-	13	3618	c.3394C>A	c.(3394-3396)Cag>Aag	p.Q1132K	MTUS1_ENST00000381869.3_Missense_Mutation_p.Q1078K|MTUS1_ENST00000519263.1_Missense_Mutation_p.Q1078K|MTUS1_ENST00000381861.3_Missense_Mutation_p.Q379K|MTUS1_ENST00000400046.1_Missense_Mutation_p.Q204K|MTUS1_ENST00000544260.1_Missense_Mutation_p.Q277K|MTUS1_ENST00000297488.6_Missense_Mutation_p.Q298K|MTUS1_ENST00000518713.1_5'UTR	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1132					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)		p.Q379*(1)|p.Q1132*(1)|p.Q298*(1)		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)		TACATGATCTGAGGATTTTTC	0.353																																																	3	Substitution - Nonsense(3)	endometrium(3)											149	133	138					8																	17507462		1859	4091	5950	SO:0001583	missense	0			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.3394C>A	8.37:g.17507462G>T	ENSP00000262102:p.Gln1132Lys		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.Q1132K	ENST00000262102.6	37	c.3394	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052005	0.55218	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.41	5.41	0.78517	.	0.048793	0.85682	D	0.000000	T	0.80048	0.4552	M	0.64997	1.995	0.80722	D	1	P;P;P;P	0.48162	0.746;0.746;0.906;0.69	P;P;P;B	0.50440	0.487;0.557;0.641;0.439	T	0.75297	-0.3367	10	0.06099	T	0.92	-18.4008	19.5817	0.95469	0.0:0.0:1.0:0.0	.	1078;1132;379;298	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	K	1078;277;204;298;379;1132;1078	ENSP00000371293:Q1078K;ENSP00000445738:Q277K;ENSP00000382921:Q204K;ENSP00000297488:Q298K;ENSP00000371285:Q379K;ENSP00000262102:Q1132K;ENSP00000430167:Q1078K	ENSP00000262102:Q1132K	Q	-	1	0	MTUS1	17551742	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.579000	0.82511	2.712000	0.92718	0.557000	0.71058	CAG	MTUS1	-	NULL	ENSG00000129422		0.353	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1		0	49	0	G	XM_372031		17507462	-1			no_errors	ENST00000262102	ensembl	human	known	74_37	missense	5.26	35	2	SNP	1.000	T	T	17507462	G	T	17507462	3	4	157	1	0	0	0	0	1	0	0	0	10003	1299	45	3	430	3	MTUS1	8	17507462	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	1494828	17507462	128856560	100	39958											
UNC5D	137970	genome.wustl.edu	37	chr8	35608185	35608185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgctcctggacagctttgGgacctatgcgctcactggag	6	11	13	11	1	1	0	1	0	0	0	2	3	2	3	2	3	3	3	2	3	1	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr8:35608185G>T	ENST00000404895.2	+	13	2349	c.2021G>T	c.(2020-2022)gGg>gTg	p.G674V	UNC5D_ENST00000416672.1_Missense_Mutation_p.G679V|UNC5D_ENST00000453357.2_Missense_Mutation_p.G669V|UNC5D_ENST00000449677.1_Missense_Mutation_p.G250V|UNC5D_ENST00000420357.1_Missense_Mutation_p.G607V|UNC5D_ENST00000287272.2_Missense_Mutation_p.G605V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	674					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GACAGCTTTGGGACCTATGCG	0.507																																																	0													251	210	224					8																	35608185		2203	4300	6503	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2021G>T	8.37:g.35608185G>T	ENSP00000385143:p.Gly674Val		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.G674V	ENST00000404895.2	37	c.2021	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660756	0.88154	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.57595	0.42;0.84;0.83;0.42;0.39;2.3	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.77859	-0.2431	10	0.87932	D	0	-24.6112	20.2822	0.98520	0.0:0.0:1.0:0.0	.	250;669;674	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	674;607;605;679;669;250	ENSP00000385143:G674V;ENSP00000392739:G607V;ENSP00000287272:G605V;ENSP00000412652:G679V;ENSP00000394303:G669V;ENSP00000397211:G250V	ENSP00000287272:G605V	G	+	2	0	UNC5D	35727727	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	GGG	UNC5D	-	NULL	ENSG00000156687		0.507	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0	51	0	G			35608185	1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	35608185	G	T	35608185	3	4	157	1	0	0	0	0	1	0	0	0	17044	1232	43	3	2071	3	UNC5D	8	35608185	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	18100723	35608185	110755837	101	39959											
CHRNA6	8973	genome.wustl.edu	37	chr8	42611499	42611499	+	Silent	SNP	A	A	G	1	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	accagcaaaaacacagtcagAgaaagcaggactgaaataca	21	3	8	9	0	1	2	1	1	0	1	1	4	1	3	1	1	4	2	1	1	5	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr8:42611499A>G	ENST00000276410.2	-	5	1198	c.843T>C	c.(841-843)tcT>tcC	p.S281S	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Silent_p.S266S	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	281					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	ACACAGTCAGAGAAAGCAGGA	0.453																																																	0													103	89	94					8																	42611499		2203	4300	6503	SO:0001819	synonymous_variant	0			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.843T>C	8.37:g.42611499A>G			B2R8V4|B4DQH1	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S281	ENST00000276410.2	37	c.843	CCDS6135.1	8																																																																																			CHRNA6	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000147434		0.453	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA6	HGNC	protein_coding	OTTHUMT00000383156.1	-	0	52	0	A			42611499	-1	tier1	-	no_errors	ENST00000276410	ensembl	human	known	74_37	silent	38.64	27	17	SNP	0.990	G	G	42611499	A	G	42611499	2	3	157	1	0	0	0	0	0	0	0	1	3394	291	11	4		4	CHRNA6	8	42611499	Silent	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	7003314	42611499	103752523	102	39960											
RP1	6101	genome.wustl.edu	37	chr8	55534695	55534695	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	aggttcccagcctccaggcaGtgatcctgagctctggagct	7	9	12	13	0	1	2	0	2	1	0	4	3	4	3	4	3	3	4	4	3	0	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr8:55534695G>A	ENST00000220676.1	+	3	782	c.634G>A	c.(634-636)Gtg>Atg	p.V212M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	212	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			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)			CCTCCAGGCAGTGATCCTGAG	0.433																																					Colon(91;1014 1389 7634 14542 40420)												0													57	57	57					8																	55534695		2203	4300	6503	SO:0001583	missense	0			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.634G>A	8.37:g.55534695G>A	ENSP00000220676:p.Val212Met			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.V212M	ENST00000220676.1	37	c.634	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352721	0.61293	.	.	ENSG00000104237	ENST00000427058;ENST00000220676	T	0.23552	1.9	5.55	4.68	0.58851	Doublecortin domain (5);	0.000000	0.52532	D	0.000065	T	0.35451	0.0932	M	0.68317	2.08	0.30198	N	0.798921	P;D	0.56968	0.91;0.978	P;P	0.54499	0.63;0.754	T	0.47182	-0.9137	10	0.87932	D	0	.	4.2535	0.10707	0.0759:0.234:0.4868:0.2033	.	22;212	E7EVW9;P56715	.;RP1_HUMAN	M	22;212	ENSP00000220676:V212M	ENSP00000220676:V212M	V	+	1	0	RP1	55697248	0.415000	0.25416	0.991000	0.47740	0.953000	0.61014	0.915000	0.28638	1.342000	0.45619	0.655000	0.94253	GTG	RP1	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000104237		0.433	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	71	0	G	NM_006269		55534695	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	15.62	54	10	SNP	0.951	A	A	55534695	G	A	55534695	3	1	157	1	0	0	0	0	1	0	0	0	13577	1029	36	3	640	3	RP1	8	55534695	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	12923196	55534695	90829327	103	39961											
C8orf45	157777	genome.wustl.edu	37	chr8	67803132	67803132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcataaaccttgtcccccGtggtatacgtcatctagtct	9	13	7	12	2	3	0	1	0	2	0	4	0	4	0	3	1	3	2	3	1	6	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr8:67803132G>A	ENST00000422365.2	+	10	1277	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	MCMDC2_ENST00000396592.3_Missense_Mutation_p.R369H|MCMDC2_ENST00000541540.1_Missense_Mutation_p.R306H|MCMDC2_ENST00000313616.5_Missense_Mutation_p.R369H	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	369					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						CTTGTCCCCCGTGGTATACGT	0.348																																																	0													108	111	110					8																	67803132		2203	4300	6503	SO:0001583	missense	0			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1106G>A	8.37:g.67803132G>A	ENSP00000413632:p.Arg369His		B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase	p.R369H	ENST00000422365.2	37	c.1106	CCDS6197.2	8	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345726	0.24426	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	4.84	3.97	0.46021	.	0.166810	0.53938	N	0.000045	T	0.26919	0.0659	L	0.44542	1.39	0.53688	D	0.99997	B;B;B	0.30211	0.273;0.179;0.015	B;B;B	0.26094	0.066;0.03;0.008	T	0.09143	-1.0688	10	0.66056	D	0.02	-5.2519	13.2025	0.59776	0.0778:0.0:0.9222:0.0	.	306;369;369	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	H	241;369;369;369;306	ENSP00000379837:R369H;ENSP00000413632:R369H;ENSP00000317234:R369H;ENSP00000445629:R306H	ENSP00000317234:R369H	R	+	2	0	C8orf45	67965686	1.000000	0.71417	0.995000	0.50966	0.094000	0.18550	5.510000	0.67018	1.160000	0.42584	0.591000	0.81541	CGT	MCMDC2	-	smart_MCM_DNA-dep_ATPase	ENSG00000178460		0.348	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCMDC2	HGNC	protein_coding	OTTHUMT00000347350.1	-	0	55	0	G	NM_173518		67803132	1	tier1	-	no_errors	ENST00000422365	ensembl	human	known	74_37	missense	60.26	31	47	SNP	1.000	A	A	67803132	G	A	67803132	3	1	157	1	0	0	0	0	1	0	0	0	2437	1145	40	1	1140	1	C8orf45	8	67803132	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	12268437	67803132	78560890	104	39962											
PREX2	80243	genome.wustl.edu	37	chr8	69046447	69046447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaagccagcaggaggtGgctggaccagatagcgaatg	11	6	17	7	1	0	1	0	0	0	1	0	5	0	4	2	5	3	2	2	5	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr8:69046447G>T	ENST00000288368.4	+	32	4197	c.3920G>T	c.(3919-3921)tGg>tTg	p.W1307L		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	1307					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						AGCAGGAGGTGGCTGGACCAG	0.483																																																	0													121	108	112					8																	69046447		2203	4300	6503	SO:0001583	missense	0			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.3920G>T	8.37:g.69046447G>T	ENSP00000288368:p.Trp1307Leu		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.W1307L	ENST00000288368.4	37	c.3920	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783033	0.90282	.	.	ENSG00000046889	ENST00000288368	T	0.54866	0.55	5.42	5.42	0.78866	.	0.069773	0.64402	D	0.000008	T	0.70430	0.3223	M	0.72118	2.19	0.80722	D	1	D	0.56521	0.976	P	0.60173	0.87	T	0.73091	-0.4092	10	0.66056	D	0.02	.	19.2126	0.93763	0.0:0.0:1.0:0.0	.	1307	Q70Z35	PREX2_HUMAN	L	1307	ENSP00000288368:W1307L	ENSP00000288368:W1307L	W	+	2	0	PREX2	69209001	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.561000	0.82288	2.559000	0.86315	0.655000	0.94253	TGG	PREX2	-	NULL	ENSG00000046889		0.483	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	31	0	G	NM_025170		69046447	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	50.00	17	17	SNP	1.000	T	T	69046447	G	T	69046447	3	4	157	1	0	0	0	0	1	0	0	0	12519	1357	47	3	4275	3	PREX2	8	69046447	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	1243315	69046447	77317575	105	39963											
KCNV1	27012	genome.wustl.edu	37	chr8	110986364	110986364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcaaagctccagagggctgGgcacggcggccagggccccg	7	2	17	15	4	0	1	0	0	0	1	1	1	1	1	4	5	1	4	4	5	1	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr8:110986364G>A	ENST00000524391.1	-	2	1286	c.254C>T	c.(253-255)cCc>cTc	p.P85L	KCNV1_ENST00000297404.1_Missense_Mutation_p.P85L|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	85					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)	p.P85H(2)		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)			CAGAGGGCTGGGCACGGCGGC	0.677																																																	2	Substitution - Missense(2)	lung(2)											24	22	23					8																	110986364		2201	4297	6498	SO:0001583	missense	0			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.254C>T	8.37:g.110986364G>A	ENSP00000435954:p.Pro85Leu		Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.P85L	ENST00000524391.1	37	c.254	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156187	0.57259	.	.	ENSG00000164794	ENST00000524391;ENST00000297404	D;D	0.97378	-4.36;-4.36	4.95	4.95	0.65309	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.438594	0.25065	N	0.033414	D	0.93128	0.7812	N	0.17082	0.46	0.43347	D	0.9954	B	0.02656	0.0	B	0.04013	0.001	D	0.89970	0.4093	10	0.72032	D	0.01	.	15.5082	0.75757	0.0:0.0:1.0:0.0	.	85	Q6PIU1	KCNV1_HUMAN	L	85	ENSP00000435954:P85L;ENSP00000297404:P85L	ENSP00000297404:P85L	P	-	2	0	KCNV1	111055540	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.875000	0.48491	2.554000	0.86153	0.655000	0.94253	CCC	KCNV1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv8	ENSG00000164794		0.677	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	-	0	60	0	G	NM_014379		110986364	-1	tier1	-	no_errors	ENST00000297404	ensembl	human	known	74_37	missense	10.64	84	10	SNP	1.000	A	A	110986364	G	A	110986364	3	1	157	1	0	0	0	0	1	0	0	0	8121	1232	43	3	1260	3	KCNV1	8	110986364	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	41939917	110986364	35377658	106	39964											
TRPS1	7227	genome.wustl.edu	37	chr8	116617156	116617156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaattgcagaatttacagCggaaatacttggtgttccct	12	13	9	7	1	0	2	0	1	0	1	1	3	1	3	1	2	4	2	1	2	5	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr8:116617156C>T	ENST00000220888.5	-	3	1160	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	TRPS1_ENST00000519674.1_Missense_Mutation_p.R334H|TRPS1_ENST00000395715.3_Missense_Mutation_p.R347H|TRPS1_ENST00000520276.1_Missense_Mutation_p.R338H|TRPS1_ENST00000519076.1_Missense_Mutation_p.R288H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	334					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)			GAATTTACAGCGGAAATACTT	0.418									Langer-Giedion syndrome																																								0													95	93	94					8																	116617156		1894	4108	6002	SO:0001583	missense	0	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.1001G>A	8.37:g.116617156C>T	ENSP00000220888:p.Arg334His		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.R347H	ENST00000220888.5	37	c.1040		8	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575815	0.86645	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.01448	-1.1352	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	338;334;347	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	347;334;288;338;334	ENSP00000379065:R347H;ENSP00000220888:R334H;ENSP00000428910:R288H;ENSP00000428680:R338H;ENSP00000429174:R334H	ENSP00000220888:R334H	R	-	2	0	TRPS1	116686331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	CGC	TRPS1	-	smart_Znf_C2H2-like	ENSG00000104447		0.418	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0	52	0	C	NM_014112		116617156	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	116617156	C	T	116617156	3	4	157	1	0	0	0	0	1	0	0	0	16641	768	27	1	2860	1	TRPS1	8	116617156	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	5630792	116617156	29746866	107	39965											
KLHL38	340359	genome.wustl.edu	37	chr8	124664819	124664819	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggcctcaaacagcttgggGaactgtagcatggaggcggc	10	6	15	10	1	1	0	1	0	0	0	1	2	1	2	1	6	4	3	1	6	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr8:124664819G>A	ENST00000325995.7	-	1	371	c.348C>T	c.(346-348)ttC>ttT	p.F116F	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	116										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						ACAGCTTGGGGAACTGTAGCA	0.562																																																	0													52	58	56					8																	124664819		2017	4172	6189	SO:0001819	synonymous_variant	0				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.348C>T	8.37:g.124664819G>A			A0PK12	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F116	ENST00000325995.7	37	c.348	CCDS43766.1	8																																																																																			KLHL38	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000175946		0.562	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	-	0	27	0	G			124664819	-1	tier1	-	no_errors	ENST00000325995	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.992	A	A	124664819	G	A	124664819	2	1	157	1	0	0	0	0	0	0	0	1	8417	1165	41	3		3	KLHL38	8	124664819	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	8047663	124664819	21699203	108	39966											
DNAJA1	3301	genome.wustl.edu	37	chr9	33030447	33030447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttaaatttaggtagaggagGtaagaaaggagcagtagagt	16	10	14	1	0	0	3	0	0	0	3	0	5	0	5	0	4	1	4	0	4	7	7			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr9:33030447G>A	ENST00000330899.4	+	5	608	c.425G>A	c.(424-426)gGt>gAt	p.G142D	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	142					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		GGTAGAGGAGGTAAGAAAGGA	0.338																																																	0													48	44	45					9																	33030447		2203	4300	6503	SO:0001583	missense	0			L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"Heat shock proteins / DNAJ (HSP40)"	5229	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 7"	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.425G>A	9.37:g.33030447G>A	ENSP00000369127:p.Gly142Asp		Q5T7Q0|Q86TL9	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.G142D	ENST00000330899.4	37	c.425	CCDS6533.1	9	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314436	0.81358	.	.	ENSG00000086061	ENST00000330899	T	0.61859	0.07	4.79	4.79	0.61399	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.051698	0.85682	D	0.000000	T	0.78935	0.4362	M	0.91768	3.24	0.80722	D	1	P;P	0.50066	0.879;0.931	P;P	0.59948	0.658;0.866	D	0.84290	0.0499	10	0.87932	D	0	-7.8456	15.6808	0.77367	0.0:0.0:1.0:0.0	.	142;142	Q86TL9;P31689	.;DNJA1_HUMAN	D	142	ENSP00000369127:G142D	ENSP00000369127:G142D	G	+	2	0	DNAJA1	33020447	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.655000	0.98512	2.377000	0.81083	0.313000	0.20887	GGT	DNAJA1	-	pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,pfscan_HSP_DnaJ_Cys-rich_dom	ENSG00000086061		0.338	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA1	HGNC	protein_coding	OTTHUMT00000052031.1	-	0	24	0	G			33030447	1	tier1	-	no_errors	ENST00000330899	ensembl	human	known	74_37	missense	71.43	4	10	SNP	1.000	A	A	33030447	G	A	33030447	3	1	157	1	0	0	0	0	1	0	0	0	4625	1261	44	3	439	3	DNAJA1	9	33030447	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09		33030447	108182984	109	39967											
SFMBT2	57713	genome.wustl.edu	37	chr10	7247841	7247841	+	Silent	SNP	G	G	A	0	0	1	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	caccagcccactgggaagatGtccatggattccacatcaac	12	7	8	14	0	1	1	1	0	0	1	3	3	3	3	4	2	2	0	4	2	2	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr10:7247841G>A	ENST00000361972.4	-	12	1470	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	SFMBT2_ENST00000397167.1_Silent_p.D460D	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	460					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						CTGGGAAGATGTCCATGGATT	0.483																																																	0													121	106	111					10																	7247841		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1380C>T	10.37:g.7247841G>A			A7MD09|Q9HCF5	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.D460	ENST00000361972.4	37	c.1380	CCDS31138.1	10																																																																																			SFMBT2	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000198879		0.483	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	-	0	48	0	G	NM_001029880		7247841	-1	tier1	-	no_errors	ENST00000361972	ensembl	human	known	74_37	silent	27.91	31	12	SNP	1.000	A	A	7247841	G	A	7247841	2	1	157	1	0	0	0	0	0	0	0	1	14203	1368	48	3		3	SFMBT2	10	7247841	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09		7247841	128286906	110	39968											
C10orf68	79741	genome.wustl.edu	37	chr10	33123743	33123743	+	Splice_Site	SNP	A	A	C	1	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	aacctgttttatttttatagAgactgtcttaaaacacttga	13	17	5	6	0	1	2	0	1	1	1	1	3	1	2	1	0	2	1	1	0	6	8			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr10:33123743A>C	ENST00000375030.2	+	15	1577	c.959A>C	c.(958-960)gAg>gCg	p.E320A	C10orf68_ENST00000375028.3_Splice_Site_p.E337A|C10orf68_ENST00000375025.4_Splice_Site_p.E397A			Q9H943	CJ068_HUMAN		361										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATTTTTATAGAGACTGTCTTA	0.299																																																	0													36	34	35					10																	33123743		2196	4288	6484	SO:0001630	splice_region_variant	0																														ENST00000375030.2:c.959-1A>C	10.37:g.33123743A>C			B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.E397A	ENST00000375030.2	37	c.1190		10	.	.	.	.	.	.	.	.	.	.	.	11.43	1.636390	0.29068	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.31247	1.52;1.51;1.51;1.5	2.24	0.998	0.19857	.	.	.	.	.	T	0.42539	0.1207	L	0.55481	1.735	0.09310	N	1	D;P;D;P	0.56035	0.974;0.927;0.974;0.7	D;D;D;B	0.67725	0.953;0.953;0.953;0.162	T	0.16719	-1.0393	8	.	.	.	.	5.0217	0.14365	0.6847:0.3153:0.0:0.0	.	314;361;337;320	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	A	361;320;337;397;309	ENSP00000303710:E361A;ENSP00000364170:E320A;ENSP00000364168:E337A;ENSP00000364165:E397A	.	E	+	2	0	C10orf68	33163749	0.173000	0.23056	0.034000	0.17996	0.015000	0.08874	0.486000	0.22340	0.263000	0.21812	0.402000	0.26972	GAG	C10orf68	-	NULL	ENSG00000150076		0.299	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	-	0	88	0	A		Missense_Mutation	33123743	1	tier1	-	no_errors	ENST00000375025	ensembl	human	known	74_37	missense	21.97	103	29	SNP	0.043	C	C	33123743	A	C	33123743	5	2	157	1	0	0	0	0	0	0	1	0	1618	318	11	4	1128	4	C10orf68	10	33123743	Splice_Site	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	25875902	33123743	102411004	111	39969											
CHAT	1103	genome.wustl.edu	37	chr10	50872851	50872851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccacggagatgttctgctGctatggtcctgtggtcccaa	8	11	11	11	1	1	1	0	0	1	1	3	2	3	1	3	3	3	3	3	3	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr10:50872851G>T	ENST00000337653.2	+	15	2159	c.2006G>T	c.(2005-2007)tGc>tTc	p.C669F	CHAT_ENST00000339797.1_Missense_Mutation_p.C551F|CHAT_ENST00000395562.2_Missense_Mutation_p.C587F|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000351556.3_Missense_Mutation_p.C551F|CHAT_ENST00000395559.2_Missense_Mutation_p.C551F	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	669					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)	ATGTTCTGCTGCTATGGTCCT	0.567																																																	0													180	173	176					10																	50872851		2203	4300	6503	SO:0001583	missense	0			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.2006G>T	10.37:g.50872851G>T	ENSP00000337103:p.Cys669Phe		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.C669F	ENST00000337653.2	37	c.2006	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431645	0.83776	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562	D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07	5.76	5.76	0.90799	.	0.139568	0.64402	D	0.000002	D	0.98065	0.9362	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97506	1.0063	10	0.39692	T	0.17	-22.3187	19.9576	0.97228	0.0:0.0:1.0:0.0	.	669	P28329	CLAT_HUMAN	F	551;551;551;669;587	ENSP00000343486:C551F;ENSP00000345878:C551F;ENSP00000378926:C551F;ENSP00000337103:C669F;ENSP00000378929:C587F	ENSP00000337103:C669F	C	+	2	0	CHAT	50542857	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.771000	0.98977	2.736000	0.93811	0.655000	0.94253	TGC	CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.567	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0	46	0	G	NM_020549		50872851	1	tier1	-	no_errors	ENST00000337653	ensembl	human	known	74_37	missense	61.54	15	24	SNP	1.000	T	T	50872851	G	T	50872851	3	4	157	1	0	0	0	0	1	0	0	0	3320	1319	46	3	2108	3	CHAT	10	50872851	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	17749108	50872851	84661896	112	39970											
CDH23	64072	genome.wustl.edu	37	chr10	73447449	73447449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagcccgcctacttcGtctccgtggtggagaacatc	8	9	10	14	3	2	1	1	0	1	1	5	2	2	1	3	2	4	1	3	2	3	2	rs547668692		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr10:73447449G>A	ENST00000224721.6	+	18	2052	c.2047G>A	c.(2047-2049)Gtc>Atc	p.V683I	CDH23_ENST00000299366.7_Missense_Mutation_p.V723I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	678	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGCCTACTTCGTCTCCGTGGT	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		18685	0		0	False		,,,				2504	0																0													47	51	49					10																	73447449		2070	4207	6277	SO:0001583	missense	0			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.2047G>A	10.37:g.73447449G>A	ENSP00000224721:p.Val683Ile		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V683I	ENST00000224721.6	37	c.2047		10	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688460	0.29962	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	4.66	3.73	0.42828	Cadherin (3);Cadherin-like (1);	0.093724	0.42682	D	0.000661	T	0.40619	0.1124	L	0.35644	1.08	0.80722	D	1	B;B;B	0.18310	0.025;0.027;0.011	B;B;B	0.20955	0.032;0.005;0.009	T	0.17623	-1.0363	9	0.12103	T	0.63	.	7.2665	0.26232	0.2524:0.0:0.7476:0.0	.	678;681;678	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	I	683;678;678;681;681;195	.	ENSP00000224721:V683I	V	+	1	0	CDH23	73117455	0.998000	0.40836	0.996000	0.52242	0.987000	0.75469	2.375000	0.44283	2.310000	0.77875	0.563000	0.77884	GTC	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000107736		0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	-	0	39	0	G	NM_052836		73447449	1	tier1	-	no_errors	ENST00000224721	ensembl	human	putative	74_37	missense	46.67	16	14	SNP	0.999	A	A	73447449	G	A	73447449	3	1	157	1	0	0	0	0	1	0	0	0	3115	1145	40	1	2329	1	CDH23	10	73447449	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	22574598	73447449	62087298	113	39971											
OR51B4	79339	genome.wustl.edu	37	chr11	5322505	5322505	+	Silent	SNP	G	G	A	0	0	1	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	tcctcttgtccagacgcaatGcccatcactgtcttgaggat	8	12	8	13	1	3	2	1	1	2	1	5	3	5	3	3	1	1	1	3	1	1	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:5322505G>A	ENST00000380224.1	-	1	721	c.672C>T	c.(670-672)ggC>ggT	p.G224G	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	224					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACGCAATGCCCATCACTG	0.373																																																	0													85	79	81					11																	5322505		2201	4297	6498	SO:0001819	synonymous_variant	0			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.672C>T	11.37:g.5322505G>A			A7MAV5|Q6NTD7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G224	ENST00000380224.1	37	c.672	CCDS7757.1	11																																																																																			OR51B4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183251		0.373	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B4	HGNC	protein_coding	OTTHUMT00000142956.2	-	0	53	0	G	NM_033179		5322505	-1	tier1	-	no_errors	ENST00000380224	ensembl	human	known	74_37	silent	67.61	23	48	SNP	0.999	A	A	5322505	G	A	5322505	2	1	157	1	0	0	0	0	0	0	0	1	11129	1306	46	3		3	OR51B4	11	5322505	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09		5322505	129684011	114	39972											
OR56A1	120796	genome.wustl.edu	37	chr11	6048776	6048776	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccagctggatggtgatCaggagggtggtgttagctcc	6	10	16	9	0	1	1	1	1	0	0	3	3	3	3	3	5	2	3	3	5	1	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:6048776C>A	ENST00000316650.5	-	1	195	c.159G>T	c.(157-159)ctG>ctT	p.L53L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	53						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)		GGATGGTGATCAGGAGGGTGG	0.612																																																	0													66	66	66					11																	6048776		2201	4293	6494	SO:0001819	synonymous_variant	0			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.159G>T	11.37:g.6048776C>A			B2RNI2|Q6IFL0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L53	ENST00000316650.5	37	c.159	CCDS31405.1	11																																																																																			OR56A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180934		0.612	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	-	0	47	0	C	NM_001001917		6048776	-1	tier1	-	no_errors	ENST00000316650	ensembl	human	known	74_37	silent	25.00	24	8	SNP	0.277	A	A	6048776	C	A	6048776	2	1	157	1	0	0	0	0	0	0	0	1	11172	813	29	3		3	OR56A1	11	6048776	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	726271	6048776	128957740	115	39973											
SAAL1	113174	genome.wustl.edu	37	chr11	18127524	18127524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctccctatgcagtctccaCcggccacctcctcctcctcc	4	10	5	22	1	1	0	0	0	1	0	7	0	6	0	9	1	2	2	9	1	1	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:18127524C>G	ENST00000524803.1	-	1	114	c.65G>C	c.(64-66)gGt>gCt	p.G22A	SAAL1_ENST00000300013.4_Missense_Mutation_p.G22A|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.G22A			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	22										breast(2)|large_intestine(5)|lung(8)	15						GCAGTCTCCACCGGCCACCTC	0.672											OREG0020819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													57	41	47					11																	18127524		2200	4292	6492	SO:0001583	missense	0			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.65G>C	11.37:g.18127524C>G	ENSP00000432487:p.Gly22Ala	723	A6NH05	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G22A	ENST00000524803.1	37	c.65	CCDS31439.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.39|10.39	1.336396|1.336396	0.24253|0.24253	.|.	.|.	ENSG00000166788|ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000529318;ENST00000530180|ENST00000532452	T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38|.	5.46|5.46	1.08|1.08	0.20341|0.20341	.|.	0.566937|.	0.19106|.	N|.	0.122564|.	T|T	0.31949|0.31949	0.0813|0.0813	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B;B|.	0.15473|.	0.013;0.013;0.013|.	B;B;B|.	0.14578|.	0.011;0.011;0.011|.	T|T	0.24835|0.24835	-1.0149|-1.0149	10|5	0.08381|.	T|.	0.77|.	0.3292|0.3292	5.4988|5.4988	0.16817|0.16817	0.1305:0.3271:0.4602:0.0823|0.1305:0.3271:0.4602:0.0823	.|.	22;22;22|.	E9PRZ1;G1UCX3;Q96ER3|.	.;.;SAAL1_HUMAN|.	A|L	22|15	ENSP00000432487:G22A;ENSP00000300013:G22A;ENSP00000432216:G22A;ENSP00000431489:G22A|.	ENSP00000300013:G22A|.	G|V	-|-	2|1	0|0	SAAL1|SAAL1	18084100|18084100	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.470000|0.470000	0.32858|0.32858	-0.192000|-0.192000	0.09587|0.09587	-0.006000|-0.006000	0.14370|0.14370	-0.175000|-0.175000	0.13238|0.13238	GGT|GTG	SAAL1	-	NULL	ENSG00000166788		0.672	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAAL1	HGNC	protein_coding	OTTHUMT00000389728.1	-	0	106	0	C	NM_138421		18127524	-1	tier1	-	no_errors	ENST00000524803	ensembl	human	known	74_37	missense	30.53	66	29	SNP	0.000	G	G	18127524	C	G	18127524	3	3	157	1	0	0	0	0	1	0	0	0	13846	507	18	5	1407	5	SAAL1	11	18127524	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	12078748	18127524	116878992	116	39974											
F2	2147	genome.wustl.edu	37	chr11	46750222	46750222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtctctgcaggtacgagcGaaacattgaaaagatatcca	14	8	11	8	2	1	2	0	1	1	1	3	4	2	2	1	2	4	2	1	2	5	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:46750222G>A	ENST00000311907.5	+	11	1363	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	F2_ENST00000530231.1_Missense_Mutation_p.R436Q	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	436	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)	AGGTACGAGCGAAACATTGAA	0.527																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0													82	75	77					11																	46750222		2201	4299	6500	SO:0001583	missense	0			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.1307G>A	11.37:g.46750222G>A	ENSP00000308541:p.Arg436Gln		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.R436Q	ENST00000311907.5	37	c.1307	CCDS31476.1	11	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391045	0.42410	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.92752	-3.1;-3.1	5.88	5.88	0.94601	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.053985	0.64402	D	0.000001	D	0.84795	0.5551	N	0.16708	0.43	0.45216	D	0.99822	P	0.49447	0.924	B	0.40677	0.337	D	0.86403	0.1743	10	0.87932	D	0	.	10.9104	0.47106	0.0688:0.0:0.8001:0.1311	.	436	P00734	THRB_HUMAN	Q	436	ENSP00000308541:R436Q;ENSP00000433907:R436Q	ENSP00000308541:R436Q	R	+	2	0	F2	46706798	0.965000	0.33210	0.888000	0.34837	0.094000	0.18550	1.766000	0.38491	2.780000	0.95670	0.655000	0.94253	CGA	F2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1	ENSG00000180210		0.527	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	HGNC	protein_coding	OTTHUMT00000317706.1	-	0	54	0	G			46750222	1	tier1	-	no_errors	ENST00000311907	ensembl	human	known	74_37	missense	47.06	27	24	SNP	0.934	A	A	46750222	G	A	46750222	3	1	157	1	0	0	0	0	1	0	0	0	5358	1058	37	1	1349	1	F2	11	46750222	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	28622698	46750222	88256294	117	39975											
MYBPC3	4607	genome.wustl.edu	37	chr11	47372077	47372077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacttggggcactttctcCcagctcagcggctggggccg	4	8	16	13	2	2	0	1	0	1	0	3	1	2	1	2	6	2	3	2	6	0	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:47372077C>T	ENST00000545968.1	-	3	436	c.382G>A	c.(382-384)Gga>Aga	p.G128R	MYBPC3_ENST00000399249.2_Missense_Mutation_p.G128R|MYBPC3_ENST00000256993.4_Missense_Mutation_p.G128R	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	128	Pro-rich.				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)		GCACTTTCTCCCAGCTCAGCG	0.677																																																	0													15	16	16					11																	47372077		1848	4080	5928	SO:0001583	missense	0			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.382G>A	11.37:g.47372077C>T	ENSP00000442795:p.Gly128Arg		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G128R	ENST00000545968.1	37	c.382	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	C	9.673	1.147316	0.21288	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.56611	0.45;0.45;0.5	3.07	2.15	0.27550	.	.	.	.	.	T	0.26340	0.0643	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.20538	-1.0272	9	0.12430	T	0.62	.	6.2865	0.21037	0.0:0.861:0.0:0.139	.	128	Q14896	MYPC3_HUMAN	R	128	ENSP00000442795:G128R;ENSP00000382193:G128R;ENSP00000256993:G128R	ENSP00000256993:G128R	G	-	1	0	MYBPC3	47328653	0.009000	0.17119	0.025000	0.17156	0.198000	0.23893	2.290000	0.43531	0.879000	0.35944	0.462000	0.41574	GGA	MYBPC3	-	NULL	ENSG00000134571		0.677	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	-	0	155	0	C			47372077	-1	tier1	-	no_errors	ENST00000399249	ensembl	human	known	74_37	missense	73.94	37	105	SNP	0.147	T	T	47372077	C	T	47372077	3	4	157	1	0	0	0	0	1	0	0	0	10051	632	22	3	3563	3	MYBPC3	11	47372077	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	621855	47372077	87634439	118	39976											
OR5D18	219438	genome.wustl.edu	37	chr11	55587113	55587113	+	Missense_Mutation	SNP	T	T	C	0	1	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	agaaacagaagcgatgctgcTgactgatagaaatacaagtg	17	7	11	6	1	0	5	0	2	0	3	0	6	0	5	0	0	5	2	0	0	6	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:55587113T>C	ENST00000333976.4	+	1	28	c.8T>C	c.(7-9)cTg>cCg	p.L3P		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	3						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)				GCGATGCTGCTGACTGATAGA	0.423																																																	0													79	74	75					11																	55587113		2200	4296	6496	SO:0001583	missense	0			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.8T>C	11.37:g.55587113T>C	ENSP00000335025:p.Leu3Pro		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L3P	ENST00000333976.4	37	c.8	CCDS31510.1	11	.	.	.	.	.	.	.	.	.	.	t	8.736	0.917762	0.17982	.	.	ENSG00000186119	ENST00000333976	T	0.00337	8.05	4.54	0.851	0.18989	.	0.609345	0.12553	N	0.458888	T	0.00144	0.0004	N	0.08118	0	0.09310	N	0.999997	B	0.15930	0.015	B	0.18263	0.021	T	0.14392	-1.0474	10	0.32370	T	0.25	-0.1737	3.8766	0.09059	0.1601:0.1845:0.0:0.6555	.	3	Q8NGL1	OR5DI_HUMAN	P	3	ENSP00000335025:L3P	ENSP00000335025:L3P	L	+	2	0	OR5D18	55343689	0.037000	0.19845	0.000000	0.03702	0.002000	0.02628	0.570000	0.23653	0.329000	0.23460	0.514000	0.50259	CTG	OR5D18	-	NULL	ENSG00000186119		0.423	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	HGNC	protein_coding	OTTHUMT00000391515.1		0	18	0	T	NM_001001952		55587113	1			no_errors	ENST00000333976	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.000	C	C	55587113	T	C	55587113	3	2	157	1	0	0	0	0	1	0	0	0	11196	1580	55	4	10	4	OR5D18	11	55587113	Missense_Mutation	SNP	T	TCGA-V5-A7RE-01A-11D-A351-09	8215036	55587113	79419403	119	39977											
MYO7A	4647	genome.wustl.edu	37	chr11	76900423	76900423	+	Missense_Mutation	SNP	A	A	G	1	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	gccagatcagcaagcagctgAcccacaacccctccaagagc	13	3	8	17	0	1	3	1	1	0	2	2	3	2	3	5	0	5	3	5	0	3	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:76900423A>G	ENST00000409709.3	+	28	3810	c.3538A>G	c.(3538-3540)Acc>Gcc	p.T1180A	MYO7A_ENST00000409619.2_Missense_Mutation_p.T1169A|MYO7A_ENST00000458637.2_Missense_Mutation_p.T1180A	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1180	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				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						CAAGCAGCTGACCCACAACCC	0.622																																																	0													64	75	72					11																	76900423		2084	4179	6263	SO:0001583	missense	0			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.3538A>G	11.37:g.76900423A>G	ENSP00000386331:p.Thr1180Ala		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.T1180A	ENST00000409709.3	37	c.3538	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	.	20.7	4.034035	0.75504	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.43	5.43	0.79202	MyTH4 domain (3);	0.208449	0.44483	D	0.000447	D	0.95711	0.8605	M	0.94021	3.485	0.58432	D	0.999995	B;P;P	0.44946	0.177;0.624;0.846	B;B;P	0.49683	0.363;0.386;0.619	D	0.96431	0.9319	10	0.62326	D	0.03	.	15.4979	0.75669	1.0:0.0:0.0:0.0	.	1169;1180;1180	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	A	1180;1180;1169;391;1179;1149;1056;361	ENSP00000386331:T1180A;ENSP00000392185:T1180A;ENSP00000386635:T1169A;ENSP00000417017:T361A	ENSP00000345075:T1056A	T	+	1	0	MYO7A	76578071	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.152000	0.77419	2.060000	0.61445	0.523000	0.50628	ACC	MYO7A	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000137474		0.622	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	-	0	34	0	A	NM_000260		76900423	1	tier1	-	no_errors	ENST00000409709	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	G	G	76900423	A	G	76900423	3	3	157	1	0	0	0	0	1	0	0	0	10120	275	10	4	3678	4	MYO7A	11	76900423	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	21313310	76900423	58106093	120	39978											
TRIM49	57093	genome.wustl.edu	37	chr11	89536873	89536873	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacaggactaaccttccagCatctggttctggtggtttcc	7	13	10	11	0	2	0	0	0	2	0	4	1	4	1	3	4	3	4	3	4	2	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:89536873C>A	ENST00000329758.1	-	4	828	c.500G>T	c.(499-501)tGc>tTc	p.C167F	TRIM49_ENST00000532501.2_Missense_Mutation_p.C167F	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	167						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)				AACCTTCCAGCATCTGGTTCT	0.408																																																	0													5	4	4					11																	89536873		1778	3776	5554	SO:0001583	missense	0			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.500G>T	11.37:g.89536873C>A	ENSP00000327604:p.Cys167Phe		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.C167F	ENST00000329758.1	37	c.500	CCDS8287.1	11	.	.	.	.	.	.	.	.	.	.	C	0.001	-4.016619	0.00002	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.04551	3.6	0.861	-1.72	0.08107	.	.	.	.	.	T	0.03434	0.0099	L	0.35414	1.06	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41680	-0.9495	8	.	.	.	.	3.7359	0.08510	0.0:0.3242:0.1985:0.4773	.	167	P0CI25	TRI49_HUMAN	F	167	ENSP00000327604:C167F	.	C	-	2	0	TRIM49	89176521	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.084000	0.00298	-3.476000	0.00156	-2.583000	0.00167	TGC	TRIM49	-	NULL	ENSG00000168930		0.408	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1	-	0	100	0	C	NM_020358		89536873	-1	tier1	-	no_errors	ENST00000329758	ensembl	human	known	74_37	missense	14.17	103	17	SNP	0.000	A	A	89536873	C	A	89536873	3	1	157	1	0	0	0	0	1	0	0	0	16572	710	25	3	878	3	TRIM49	11	89536873	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	12636450	89536873	45469643	121	39979											
FAT3	120114	genome.wustl.edu	37	chr11	92569825	92569825	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atgaatttactgtagatcctGtcttgggacttgtgaaagtt	10	16	10	5	0	1	3	0	2	1	1	2	4	2	4	1	1	1	2	1	1	4	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:92569825G>T	ENST00000298047.6	+	15	10197	c.10180G>T	c.(10180-10182)Gtc>Ttc	p.V3394F	FAT3_ENST00000409404.2_Missense_Mutation_p.V3394F|FAT3_ENST00000525166.1_Missense_Mutation_p.V3244F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3394	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTAGATCCTGTCTTGGGACT	0.438										TCGA Ovarian(4;0.039)																																							0													124	117	119					11																	92569825		1876	4106	5982	SO:0001583	missense	0			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.10180G>T	11.37:g.92569825G>T	ENSP00000298047:p.Val3394Phe		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V3394F	ENST00000298047.6	37	c.10180		11	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199078	0.58126	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02812	4.15;4.15;4.15	5.09	0.989	0.19802	.	.	.	.	.	T	0.03136	0.0092	L	0.55017	1.72	0.54753	D	0.999981	P	0.35077	0.483	B	0.32342	0.144	T	0.50931	-0.8769	9	0.56958	D	0.05	.	5.4277	0.16436	0.2346:0.2902:0.4752:0.0	.	3394	Q8TDW7-3	.	F	3394;3394;3244	ENSP00000298047:V3394F;ENSP00000387040:V3394F;ENSP00000432586:V3244F	ENSP00000298047:V3394F	V	+	1	0	FAT3	92209473	0.000000	0.05858	0.997000	0.53966	0.988000	0.76386	-0.339000	0.07832	-0.009000	0.14296	-0.244000	0.11960	GTC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.438	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	68	0	G	NM_001008781		92569825	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	30.00	42	18	SNP	0.862	T	T	92569825	G	T	92569825	3	4	157	1	0	0	0	0	1	0	0	0	5713	1377	48	3	10238	3	FAT3	11	92569825	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	3032952	92569825	42436691	122	39980											
SIDT2	51092	genome.wustl.edu	37	chr11	117061434	117061434	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctatcatgtgtgcccCaactataccaatttccagtt	9	14	6	12	0	1	0	1	0	0	0	2	0	2	0	4	0	4	3	4	0	5	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:117061434C>A	ENST00000324225.4	+	18	2244	c.1713C>A	c.(1711-1713)ccC>ccA	p.P571P	SIDT2_ENST00000532062.1_5'Flank|SIDT2_ENST00000431081.2_Silent_p.P568P	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	571					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)		ATGTGTGCCCCAACTATACCA	0.537																																																	0													141	114	123					11																	117061434		2201	4296	6497	SO:0001819	synonymous_variant	0			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.1713C>A	11.37:g.117061434C>A			Q8NBY7|Q9Y357	Silent	SNP	NULL	p.P592	ENST00000324225.4	37	c.1776	CCDS31682.1	11																																																																																			SIDT2	-	NULL	ENSG00000149577		0.537	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	-	0	35	0	C	NM_015996		117061434	1	tier1	-	no_errors	ENST00000278951	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	A	A	117061434	C	A	117061434	2	1	157	1	0	0	0	0	0	0	0	1	14348	581	21	3		3	SIDT2	11	117061434	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	24491609	117061434	17945082	123	39981											
HYOU1	10525	genome.wustl.edu	37	chr11	118918983	118918983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggtggctccaacaccctCatcctccagccaggtggatg	7	9	11	14	0	1	0	1	0	0	0	4	1	4	1	5	4	2	1	5	4	1	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:118918983C>T	ENST00000404233.3	-	20	2477	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	HYOU1_ENST00000525859.1_Missense_Mutation_p.E723K|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000529972.1_Missense_Mutation_p.E723K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	785					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCAACACCCTCATCCTCCAGC	0.612																																																	0													82	81	81					11																	118918983		2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2353G>A	11.37:g.118918983C>T	ENSP00000384144:p.Glu785Lys		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E785K	ENST00000404233.3	37	c.2353	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.534057	0.96460	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.14391	2.51;2.51;2.51	5.54	5.54	0.83059	.	0.111023	0.64402	D	0.000009	T	0.34513	0.0900	M	0.82823	2.61	0.80722	D	1	P;B;P;P	0.44429	0.739;0.183;0.835;0.835	B;B;P;P	0.50378	0.403;0.089;0.639;0.639	T	0.03933	-1.0991	10	0.52906	T	0.07	-27.1175	19.2714	0.94011	0.0:1.0:0.0:0.0	.	776;767;785;785	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	K	785;776;723;634;723;766	ENSP00000384144:E785K;ENSP00000437313:E723K;ENSP00000433397:E723K	ENSP00000278752:E776K	E	-	1	0	HYOU1	118424193	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.549000	0.73900	2.884000	0.98904	0.655000	0.94253	GAG	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.612	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1		0	13	0	C	NM_006389		118918983	-1			no_errors	ENST00000404233	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	T	T	118918983	C	T	118918983	3	4	157	1	0	0	0	0	1	0	0	0	7497	835	29	3	674	3	HYOU1	11	118918983	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	1857549	118918983	16087533	124	39982											
ARHGEF12	23365	genome.wustl.edu	37	chr11	120328461	120328461	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgggacaccaaagccctttCgaaagtaagtaaatcttaag	16	9	8	8	1	1	0	0	0	1	0	2	2	1	1	2	1	1	2	2	1	6	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:120328461C>T	ENST00000397843.2	+	24	2387	c.2221C>T	c.(2221-2223)Cga>Tga	p.R741*	ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.R722*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.R638*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	741					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAAGCCCTTTCGAAAGTAAGT	0.333			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													68	58	61					11																	120328461		1835	4077	5912	SO:0001587	stop_gained	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2221C>T	11.37:g.120328461C>T	ENSP00000380942:p.Arg741*		O15086|Q6P526	Nonsense_Mutation	SNP	pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R722*	ENST00000397843.2	37	c.2164	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	C	42	9.333607	0.99140	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	5.66	3.76	0.43208	.	0.000000	0.40469	N	0.001091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-10.5339	13.7475	0.62883	0.4042:0.5958:0.0:0.0	.	.	.	.	X	741;722;638	.	ENSP00000349056:R722X	R	+	1	2	ARHGEF12	119833671	0.995000	0.38212	1.000000	0.80357	0.898000	0.52572	0.445000	0.21677	0.836000	0.34901	0.591000	0.81541	CGA	ARHGEF12	-	NULL	ENSG00000196914		0.333	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	-	0	36	0	C	NM_015313		120328461	1	tier1	-	no_errors	ENST00000356641	ensembl	human	known	74_37	nonsense	22.41	45	13	SNP	1.000	T	T	120328461	C	T	120328461	4	4	157	1	0	0	0	0	0	1	0	0	897	876	31	1	2315	1	ARHGEF12	11	120328461	Nonsense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	1409478	120328461	14678055	125	39983											
OR8B4	283162	genome.wustl.edu	37	chr11	124294641	124294641	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattaaggtgatcaagcccaAgttgcccaccacagtgaaca	15	7	8	11	0	1	2	1	2	0	0	1	2	1	2	3	1	3	1	3	1	5	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr11:124294641A>G	ENST00000356130.3	-	1	148	c.127T>C	c.(127-129)Ttg>Ctg	p.L43L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	43						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)		ATCAAGCCCAAGTTGCCCACC	0.438																																																	0													77	74	75					11																	124294641		2201	4299	6500	SO:0001819	synonymous_variant	0			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.127T>C	11.37:g.124294641A>G			B2RNF8|Q6IFQ7	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L43	ENST00000356130.3	37	c.127	CCDS31710.1	11																																																																																			OR8B4	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198657		0.438	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B4	HGNC	protein_coding	OTTHUMT00000387055.1		0	19	0	A	NM_001005196		124294641	-1			no_errors	ENST00000356130	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.039	G	G	124294641	A	G	124294641	2	3	157	1	0	0	0	0	0	0	0	1	11268	69	3	4		4	OR8B4	11	124294641	Silent	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	3966180	124294641	10711875	126	39984											
KCNA5	3741	genome.wustl.edu	37	chr12	5154191	5154191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggcgccccaccagcctcccgCgcccgcccctggggccaacg	4	2	12	23	5	0	0	0	0	0	0	1	0	1	0	9	3	2	0	9	3	1	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:5154191C>T	ENST00000252321.3	+	1	1107	c.878C>T	c.(877-879)gCg>gTg	p.A293V		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	293					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|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 membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CAGCCTCCCGCGCCCGCCCCT	0.692																																																	0													29	35	33					12																	5154191		2199	4290	6489	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.878C>T	12.37:g.5154191C>T	ENSP00000252321:p.Ala293Val		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.A293V	ENST00000252321.3	37	c.878	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	C	0.613	-0.824126	0.02755	.	.	ENSG00000130037	ENST00000252321	D	0.97303	-4.33	4.77	-0.325	0.12702	.	1154.810000	0.00166	N	0.000004	D	0.89326	0.6683	N	0.03016	-0.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.84038	0.0363	10	0.26408	T	0.33	.	2.4633	0.04547	0.1278:0.361:0.3392:0.172	.	293	P22460	KCNA5_HUMAN	V	293	ENSP00000252321:A293V	ENSP00000252321:A293V	A	+	2	0	KCNA5	5024452	.	.	0.001000	0.08648	0.249000	0.25844	.	.	-0.244000	0.09639	-0.258000	0.10820	GCG	KCNA5	-	NULL	ENSG00000130037		0.692	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	-	0	11	0	C	NM_002234		5154191	1	tier1	-	no_errors	ENST00000252321	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.002	T	T	5154191	C	T	5154191	3	4	157	1	0	0	0	0	1	0	0	0	8033	768	27	1	880	1	KCNA5	12	5154191	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09		5154191	128697704	127	39985											
VWF	7450	genome.wustl.edu	37	chr12	6103618	6103618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgaagcaaaagtcttgggGctgagctgcagttggaactc	10	11	13	7	0	1	2	0	2	1	0	2	3	1	3	0	3	4	5	0	3	4	3	rs147982896		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:6103618G>T	ENST00000261405.5	-	36	6473	c.6219C>A	c.(6217-6219)agC>agA	p.S2073R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2073	VWFD 4. {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)	AAGTCTTGGGGCTGAGCTGCA	0.428																																																	0													324	267	286					12																	6103618		2203	4300	6503	SO:0001583	missense	0				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.6219C>A	12.37:g.6103618G>T	ENSP00000261405:p.Ser2073Arg		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.S2073R	ENST00000261405.5	37	c.6219	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162879	0.38217	.	.	ENSG00000110799	ENST00000261405	T	0.60424	0.19	4.91	3.04	0.35103	von Willebrand factor, type D domain (3);	0.000000	0.52532	D	0.000062	T	0.44095	0.1277	L	0.47078	1.49	0.80722	D	1	B	0.21688	0.059	B	0.21917	0.037	T	0.29336	-1.0015	10	0.29301	T	0.29	.	4.8285	0.13428	0.2365:0.1743:0.5892:0.0	.	2073	P04275	VWF_HUMAN	R	2073	ENSP00000261405:S2073R	ENSP00000261405:S2073R	S	-	3	2	VWF	5973879	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	0.655000	0.24933	1.062000	0.40625	0.655000	0.94253	AGC	VWF	-	pirsf_VWF,pfam_VWF_type-D,smart_VWF_type-D	ENSG00000110799		0.428	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0	54	0	G	NM_000552		6103618	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	13.85	56	9	SNP	1.000	T	T	6103618	G	T	6103618	3	4	157	1	0	0	0	0	1	0	0	0	17295	1194	42	3	2290	3	VWF	12	6103618	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	949427	6103618	127748277	128	39986											
RECQL	5965	genome.wustl.edu	37	chr12	21630863	21630863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcccaattagtgatgcGttagggaactgccgctttaa	10	11	11	9	2	1	1	1	1	0	0	1	2	1	2	2	1	4	2	2	1	5	4	rs148490073	byFrequency	TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:21630863G>A	ENST00000444129.2	-	7	1209	c.741C>T	c.(739-741)aaC>aaT	p.N247N	RECQL_ENST00000421138.2_Silent_p.N247N	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	247	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTAGTGATGCGTTAGGGAACT	0.363								Other identified genes with known or suspected DNA repair function																																									0								G	,	0,4406		0,0,2203	94	94	94		741,741	-1.6	0	12	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	RECQL	NM_002907.3,NM_032941.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	247/650,247/650	21630863	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.741C>T	12.37:g.21630863G>A			A8K6G2	Silent	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.N247	ENST00000444129.2	37	c.741	CCDS31756.1	12																																																																																			RECQL	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000004700		0.363	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	-	0	37	0	G	NM_002907		21630863	-1	tier1	rs148490073	no_errors	ENST00000421138	ensembl	human	known	74_37	silent	37.50	40	24	SNP	0.025	A	A	21630863	G	A	21630863	2	1	157	1	0	0	0	0	0	0	0	1	13246	1136	40	1		1	RECQL	12	21630863	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	15527245	21630863	112221032	129	39987											
ABCC9	10060	genome.wustl.edu	37	chr12	22005335	22005335	+	Silent	SNP	A	A	G	1	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	gtcagatactgtaatttgtgAgtcacaagaacgagtgtcct	12	12	10	7	1	2	3	2	1	0	2	3	4	3	3	1	0	2	1	1	0	4	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:22005335A>G	ENST00000261201.4	-	21	2609	c.2610T>C	c.(2608-2610)acT>acC	p.T870T	ABCC9_ENST00000345162.2_Silent_p.T834T|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Silent_p.T870T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	870	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GTAATTTGTGAGTCACAAGAA	0.363																																																	0													129	124	126					12																	22005335		2203	4300	6503	SO:0001819	synonymous_variant	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2610T>C	12.37:g.22005335A>G			O60707	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.T870	ENST00000261201.4	37	c.2610	CCDS8694.1	12																																																																																			ABCC9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000069431		0.363	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	84	0	A	NM_005691		22005335	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	silent	26.32	56	20	SNP	0.986	G	G	22005335	A	G	22005335	2	3	157	1	0	0	0	0	0	0	0	1	59	291	11	4		4	ABCC9	12	22005335	Silent	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	374472	22005335	111846560	130	39988											
IPO8	10526	genome.wustl.edu	37	chr12	30805929	30805929	+	Silent	SNP	A	A	G	1	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	tattcaaagcaatcctgctgAaacacttcatatagtatacc	15	12	4	10	0	2	1	2	1	0	0	3	1	3	1	2	0	4	3	2	0	8	7			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:30805929A>G	ENST00000256079.4	-	18	2384	c.2046T>C	c.(2044-2046)ttT>ttC	p.F682F	IPO8_ENST00000544829.1_Silent_p.F477F	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	682					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)					AATCCTGCTGAAACACTTCAT	0.363																																																	0													67	71	70					12																	30805929		2202	4300	6502	SO:0001819	synonymous_variant	0			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.2046T>C	12.37:g.30805929A>G			B7Z7M3	Silent	SNP	pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.F682	ENST00000256079.4	37	c.2046	CCDS8719.1	12																																																																																			IPO8	-	superfamily_ARM-type_fold	ENSG00000133704		0.363	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO8	HGNC	protein_coding	OTTHUMT00000402700.2	-	0	120	0	A	NM_006390		30805929	-1	tier1	-	no_errors	ENST00000256079	ensembl	human	known	74_37	silent	12.37	85	12	SNP	1.000	G	G	30805929	A	G	30805929	2	3	157	1	0	0	0	0	0	0	0	1	7825	243	9	4		4	IPO8	12	30805929	Silent	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	8800594	30805929	103045966	131	39989											
CNTN1	1272	genome.wustl.edu	37	chr12	41463781	41463781	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcacccaccctatccccaAgtcttctcggcttactgctg	6	11	7	17	1	2	0	0	0	2	0	4	0	3	0	4	1	3	3	4	1	3	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:41463781A>G	ENST00000551295.2	+	24	3118	c.3001A>G	c.(3001-3003)Agt>Ggt	p.S1001G	CNTN1_ENST00000348761.2_Missense_Mutation_p.S990G|CNTN1_ENST00000347616.1_Missense_Mutation_p.S1001G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	1001					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)				CCTATCCCCAAGTCTTCTCGG	0.468																																																	0													236	172	193					12																	41463781		2203	4300	6503	SO:0001583	missense	0			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.3001A>G	12.37:g.41463781A>G	ENSP00000447006:p.Ser1001Gly		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1001G	ENST00000551295.2	37	c.3001	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	A	3.793	-0.043190	0.07452	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.59772	0.25;0.25;0.24	5.58	-1.37	0.09056	.	0.880014	0.10337	N	0.686772	T	0.37046	0.0989	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19712	-1.0297	10	0.22706	T	0.39	.	0.9696	0.01413	0.3809:0.1147:0.281:0.2233	.	990;1001	Q12860-2;Q12860	.;CNTN1_HUMAN	G	1001;1001;990	ENSP00000447006:S1001G;ENSP00000325660:S1001G;ENSP00000261160:S990G	ENSP00000325660:S1001G	S	+	1	0	CNTN1	39750048	0.239000	0.23836	0.008000	0.14137	0.372000	0.29890	0.604000	0.24164	-0.388000	0.07797	0.482000	0.46254	AGT	CNTN1	-	NULL	ENSG00000018236		0.468	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0	37	0	A	NM_001843		41463781	1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.003	G	G	41463781	A	G	41463781	3	3	157	1	0	0	0	0	1	0	0	0	3647	72	3	4	3091	4	CNTN1	12	41463781	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	10657852	41463781	92388114	132	39990											
COL2A1	1280	genome.wustl.edu	37	chr12	48378877	48378877	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcaccaggggctccCtgaaagacagaacaccattc	12	7	7	15	0	2	3	1	1	1	2	4	3	3	3	4	2	1	1	4	2	2	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:48378877C>A	ENST00000380518.3	-	27	1899		c.e27-1		COL2A1_ENST00000493991.1_Splice_Site|COL2A1_ENST00000337299.6_Splice_Site	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1						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)	CAGGGGCTCCCTGAAAGACAG	0.592																																																	0			GRCh37	CS081885	COL2A1	S							38	34	36					12																	48378877		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1735-1G>T	12.37:g.48378877C>A			A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Splice_Site	SNP	-	e27-1	ENST00000380518.3	37	c.1735-1	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296954	0.81025	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2551	0.87053	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL2A1	46665144	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.150000	0.50662	2.606000	0.88127	0.655000	0.94253	.	COL2A1	-	-	ENSG00000139219		0.592	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	-	0	44	0	C	NM_001844	Intron	48378877	-1	tier1	-	no_errors	ENST00000380518	ensembl	human	known	74_37	splice_site	5.80	65	4	SNP	1.000	A	A	48378877	C	A	48378877	5	1	157	1	0	0	0	0	0	0	1	0	3694	695	24	3	2841	3	COL2A1	12	48378877	Splice_Site	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	6915096	48378877	85473018	133	39991											
MMP19	4327	genome.wustl.edu	37	chr12	56233466	56233466	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccctcagtccagaactCgtcttcgtcgaagtgcacac	8	9	9	15	3	2	1	1	0	1	1	7	2	4	1	3	1	2	1	3	1	2	1	rs536616162		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:56233466C>A	ENST00000322569.4	-	5	671	c.580G>T	c.(580-582)Gag>Tag	p.E194*	MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000409200.3_Intron|MMP19_ENST00000547487.1_5'Flank|MMP19_ENST00000548629.1_Nonsense_Mutation_p.E171*	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	194					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E194K(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	GTCCAGAACTCGTCTTCGTCG	0.602																																																	1	Substitution - Missense(1)	large_intestine(1)											81	61	67					12																	56233466		2203	4300	6503	SO:0001587	stop_gained	0			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.580G>T	12.37:g.56233466C>A	ENSP00000313437:p.Glu194*		B4E030|O15278|O95606|Q99580	Nonsense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.E194*	ENST00000322569.4	37	c.580	CCDS8895.1	12	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286049	0.80803	.	.	ENSG00000123342	ENST00000322569;ENST00000548629	.	.	.	5.22	5.22	0.72569	.	0.094766	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7115	0.88323	0.0:1.0:0.0:0.0	.	.	.	.	X	194;171	.	ENSP00000313437:E194X	E	-	1	0	MMP19	54519733	1.000000	0.71417	0.998000	0.56505	0.067000	0.16453	7.288000	0.78691	2.721000	0.93114	0.511000	0.50034	GAG	MMP19	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans	ENSG00000123342		0.602	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	HGNC	protein_coding	OTTHUMT00000408023.1		0	33	0	C	NM_002429		56233466	-1			no_errors	ENST00000322569	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	A	A	56233466	C	A	56233466	4	1	157	1	0	0	0	0	0	1	0	0	9695	893	31	2	966	2	MMP19	12	56233466	Nonsense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	7854589	56233466	77618429	134	39992											
EEA1	8411	genome.wustl.edu	37	chr12	93171841	93171841	+	Missense_Mutation	SNP	A	A	G	1	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	tctccgttgactagattgccActccttcttcacagtgccta	7	14	6	14	1	3	2	1	1	2	1	5	2	4	2	4	0	2	1	4	0	2	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:93171841A>G	ENST00000322349.8	-	26	4033	c.3769T>C	c.(3769-3771)Tgg>Cgg	p.W1257R		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1257					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CTAGATTGCCACTCCTTCTTC	0.393																																																	0													258	235	243					12																	93171841		2203	4300	6503	SO:0001583	missense	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3769T>C	12.37:g.93171841A>G	ENSP00000317955:p.Trp1257Arg		Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.W1257R	ENST00000322349.8	37	c.3769	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263346	0.80358	.	.	ENSG00000102189	ENST00000322349	T	0.64618	-0.11	5.61	5.61	0.85477	.	0.000000	0.50627	D	0.000113	T	0.69178	0.3082	L	0.36672	1.1	0.80722	D	1	D	0.61697	0.99	D	0.66716	0.946	T	0.65561	-0.6138	10	0.25106	T	0.35	.	15.7982	0.78428	1.0:0.0:0.0:0.0	.	1257	Q15075	EEA1_HUMAN	R	1257	ENSP00000317955:W1257R	ENSP00000317955:W1257R	W	-	1	0	EEA1	91695972	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.069000	0.93967	2.124000	0.65301	0.477000	0.44152	TGG	EEA1	-	NULL	ENSG00000102189		0.393	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	-	0	77	0	A	NM_003566		93171841	-1	tier1	-	no_errors	ENST00000322349	ensembl	human	known	74_37	missense	53.03	31	35	SNP	1.000	G	G	93171841	A	G	93171841	3	3	157	1	0	0	0	0	1	0	0	0	4935	159	6	4	482	4	EEA1	12	93171841	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	36938375	93171841	40680054	135	39993											
USP30	84749	genome.wustl.edu	37	chr12	109523554	109523554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gacactttgtcacttaccgaCggtccccaccttctgccagg	7	10	8	16	2	2	0	1	0	1	0	3	2	3	0	5	2	2	0	5	2	1	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:109523554C>T	ENST00000257548.5	+	13	1465	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W	USP30_ENST00000392784.2_Missense_Mutation_p.R427W	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	458	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						CACTTACCGACGGTCCCCACC	0.562																																																	0													160	130	140					12																	109523554		2203	4300	6503	SO:0001583	missense	0			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.1372C>T	12.37:g.109523554C>T	ENSP00000257548:p.Arg458Trp		Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R458W	ENST00000257548.5	37	c.1372	CCDS9123.2	12	.	.	.	.	.	.	.	.	.	.	C	34	5.354564	0.95854	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.77098	-1.07;-1.07	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.89715	0.6795	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90809	0.4700	10	0.87932	D	0	-38.7726	18.7287	0.91726	0.0:1.0:0.0:0.0	.	458;427	Q70CQ3;B3KUS5	UBP30_HUMAN;.	W	427;458	ENSP00000376535:R427W;ENSP00000257548:R458W	ENSP00000257548:R458W	R	+	1	2	USP30	108007937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.395000	0.79876	2.655000	0.90218	0.655000	0.94253	CGG	USP30	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000135093		0.562	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP30	HGNC	protein_coding	OTTHUMT00000257733.2	-	0	39	0	C	NM_032663		109523554	1	tier1	-	no_errors	ENST00000257548	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	T	T	109523554	C	T	109523554	3	4	157	1	0	0	0	0	1	0	0	0	17110	527	19	1	1422	1	USP30	12	109523554	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	16351713	109523554	24328341	136	39994											
ANAPC7	51434	genome.wustl.edu	37	chr12	110813935	110813935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagctacaaggaaatctcCtaggatccgatgcaggacac	14	6	10	11	1	1	0	0	0	1	0	3	5	2	3	2	3	3	2	2	3	4	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:110813935C>T	ENST00000455511.3	-	10	1546	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R	ANAPC7_ENST00000450008.2_Missense_Mutation_p.G516R|ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	516					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(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AGGAAATCTCCTAGGATCCGA	0.483																																																	0													144	122	130					12																	110813935		2203	4300	6503	SO:0001583	missense	0			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1546G>A	12.37:g.110813935C>T	ENSP00000394394:p.Gly516Arg		Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G516R	ENST00000455511.3	37	c.1546	CCDS9145.2	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.384695|5.384695	0.95967|0.95967	.|.	.|.	ENSG00000196510|ENSG00000196510	ENST00000455511;ENST00000481473;ENST00000486321;ENST00000450008|ENST00000552087	D;T|.	0.96967|.	-4.19;0.59|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77572|0.77572	0.4150|0.4150	M|M	0.76574|0.76574	2.34|2.34	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	0.76664|0.76664	-0.2876|-0.2876	10|5	0.87932|.	D|.	0|.	-20.8197|-20.8197	19.4921|19.4921	0.95054|0.95054	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	516;516|.	Q9UJX3-2;Q9UJX3|.	.;APC7_HUMAN|.	R|K	516;90;114;516|65	ENSP00000394394:G516R;ENSP00000402314:G516R|.	ENSP00000402314:G516R|.	G|R	-|-	1|2	0|0	ANAPC7|ANAPC7	109298318|109298318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.487000|7.487000	0.81328|0.81328	2.624000|2.624000	0.88883|0.88883	0.561000|0.561000	0.74099|0.74099	GGA|AGG	ANAPC7	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000196510		0.483	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANAPC7	HGNC	protein_coding	OTTHUMT00000347075.3	-	0	55	0	C	NM_016238		110813935	-1	tier1	-	no_errors	ENST00000455511	ensembl	human	known	74_37	missense	20.29	55	14	SNP	1.000	T	T	110813935	C	T	110813935	3	4	157	1	0	0	0	0	1	0	0	0	606	690	24	3	265	3	ANAPC7	12	110813935	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	1290381	110813935	23037960	137	39995											
NOS1	4842	genome.wustl.edu	37	chr12	117724013	117724013	+	Missense_Mutation	SNP	T	T	A	0	1	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	cttgagctggtaagtgctagTggtgtcgatctctttgttca	6	16	12	7	1	2	1	1	1	1	0	4	2	2	1	0	2	2	4	0	2	2	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:117724013T>A	ENST00000338101.4	-	5	1190	c.1186A>T	c.(1186-1188)Act>Tct	p.T396S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.T396S			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TAAGTGCTAGTGGTGTCGATC	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													186	183	184					12																	117724013		2157	4290	6447	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1186A>T	12.37:g.117724013T>A	ENSP00000337459:p.Thr396Ser			Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.T396S	ENST00000338101.4	37	c.1186	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667810	0.47677	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.23950	1.88;1.88	4.93	4.93	0.64822	Nitric oxide synthase, oxygenase domain (3);	0.101580	0.64402	D	0.000002	T	0.24624	0.0597	L	0.43757	1.38	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.02983	-1.1086	10	0.44086	T	0.13	-28.7065	14.7436	0.69474	0.0:0.0:0.0:1.0	.	396	P29475	NOS1_HUMAN	S	396	ENSP00000320758:T396S;ENSP00000337459:T396S	ENSP00000320758:T396S	T	-	1	0	NOS1	116208396	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	4.921000	0.63397	2.070000	0.61991	0.482000	0.46254	ACT	NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000089250		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	-	0	29	0	T			117724013	-1	tier1	-	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	A	A	117724013	T	A	117724013	3	1	157	1	0	0	0	0	1	0	0	0	10580	1696	59	5	3214	5	NOS1	12	117724013	Missense_Mutation	SNP	T	TCGA-V5-A7RE-01A-11D-A351-09	6910078	117724013	16127882	138	39996											
PIWIL1	9271	genome.wustl.edu	37	chr12	130845767	130845767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcggaaggacaaatacgatGctattaaaaaatacctgtgt	17	10	8	6	2	0	0	0	0	0	0	1	3	0	2	1	2	3	1	1	2	8	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr12:130845767G>A	ENST00000245255.3	+	15	1980	c.1708G>A	c.(1708-1710)Gct>Act	p.A570T		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	570	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.|RNA-binding. {ECO:0000250}.				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)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CAAATACGATGCTATTAAAAA	0.433																																																	0													78	74	75					12																	130845767		2203	4300	6503	SO:0001583	missense	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1708G>A	12.37:g.130845767G>A	ENSP00000245255:p.Ala570Thr		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.A570T	ENST00000245255.3	37	c.1708	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109230	0.56398	.	.	ENSG00000125207	ENST00000245255	T	0.28895	1.59	5.43	4.52	0.55395	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.224368	0.48767	D	0.000178	T	0.31231	0.0790	L	0.52364	1.645	0.48901	D	0.999728	B;B	0.25955	0.036;0.138	B;B	0.26614	0.043;0.071	T	0.10870	-1.0611	10	0.56958	D	0.05	-25.9397	14.7917	0.69846	0.0:0.0:0.8547:0.1453	.	570;570	Q96J94;Q96J94-2	PIWL1_HUMAN;.	T	570	ENSP00000245255:A570T	ENSP00000245255:A570T	A	+	1	0	PIWIL1	129411720	1.000000	0.71417	0.894000	0.35097	0.971000	0.66376	4.056000	0.57448	1.383000	0.46405	0.655000	0.94253	GCT	PIWIL1	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000125207		0.433	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	-	0	54	0	G			130845767	1	tier1	-	no_errors	ENST00000245255	ensembl	human	known	74_37	missense	29.31	41	17	SNP	1.000	A	A	130845767	G	A	130845767	3	1	157	1	0	0	0	0	1	0	0	0	11996	1319	46	3	1762	3	PIWIL1	12	130845767	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	13121754	130845767	3006128	139	39997											
EP400	57634	genome.wustl.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	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_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q			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	0			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	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q2779	ENST00000333577.4	37	c.8337		12																																																																																			EP400	-	NULL	ENSG00000183495		0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		-	0	30	0	G	NM_015409		132547141	1	tier1	-	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	15.15	28	5	SNP	0.737	A	A	132547141	G	A	132547141	2	1	157	1	0	0	0	0	0	0	0	1	5165	962	34	3		3	EP400	12	132547141	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	1701374	132547141	1304754	140	39998											
TPTE2	93492	genome.wustl.edu	37	chr13	20048098	20048098	+	Silent	SNP	G	G	T	0	0	1	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	acatccatgagaaaaaataaGccaatagctagagaaataga	22	6	7	6	0	0	3	0	1	0	3	1	5	1	3	2	0	2	1	2	0	9	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr13:20048098G>T	ENST00000400230.2	-	6	392	c.348C>A	c.(346-348)ggC>ggA	p.G116G	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Silent_p.G79G|TPTE2_ENST00000382977.4_Silent_p.G116G|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382978.1_Silent_p.G116G|TPTE2_ENST00000382975.4_Silent_p.G116G|TPTE2_ENST00000390680.2_Silent_p.G79G			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	116					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)		GAAAAAATAAGCCAATAGCTA	0.338																																																	0													49	55	53					13																	20048098		2201	4296	6497	SO:0001819	synonymous_variant	0			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.348C>A	13.37:g.20048098G>T			A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.G116	ENST00000400230.2	37	c.348	CCDS45014.1	13																																																																																			TPTE2	-	pfam_Ion_trans_dom	ENSG00000132958		0.338	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding		-	0	144	0	G	NM_199254		20048098	-1	tier1	-	no_errors	ENST00000382977	ensembl	human	known	74_37	silent	22.31	94	27	SNP	0.062	T	T	20048098	G	T	20048098	2	4	157	1	0	0	0	0	0	0	0	1	16479	958	34	3		3	TPTE2	13	20048098	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09		20048098	95121780	141	39999											
NBEA	26960	genome.wustl.edu	37	chr13	35731369	35731369	+	Missense_Mutation	SNP	A	A	G	1	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	aatatgaatggggaggctggAgagtctgggtggataccctc	10	9	16	6	0	1	2	0	1	1	1	2	5	1	4	1	6	1	1	1	6	4	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr13:35731369A>G	ENST00000400445.3	+	21	3340	c.2806A>G	c.(2806-2808)Aga>Gga	p.R936G	NBEA_ENST00000540320.1_Missense_Mutation_p.R936G|NBEA_ENST00000379939.2_Missense_Mutation_p.R936G|NBEA_ENST00000310336.4_Missense_Mutation_p.R936G	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	936					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)		GGGAGGCTGGAGAGTCTGGGT	0.388																																																	0													64	66	66					13																	35731369		1852	4093	5945	SO:0001583	missense	0			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.2806A>G	13.37:g.35731369A>G	ENSP00000383295:p.Arg936Gly		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.R936G	ENST00000400445.3	37	c.2806	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	20.2	3.958056	0.73902	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.37	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.81497	2.545	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.80453	-0.1376	10	0.87932	D	0	.	12.1123	0.53846	0.7292:0.2708:0.0:0.0	.	936	Q5T321	.	G	936	ENSP00000440951:R936G;ENSP00000383295:R936G;ENSP00000369271:R936G;ENSP00000308534:R936G	ENSP00000308534:R936G	R	+	1	2	NBEA	34629369	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.495000	0.35627	0.969000	0.38237	0.528000	0.53228	AGA	NBEA	-	superfamily_ARM-type_fold	ENSG00000172915		0.388	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	36	0	A	NM_015678		35731369	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	G	G	35731369	A	G	35731369	3	3	157	1	0	0	0	0	1	0	0	0	10225	296	11	4	2888	4	NBEA	13	35731369	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	15683271	35731369	79438509	142	40000											
PCDH17	27253	genome.wustl.edu	37	chr13	58298998	58298998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattgccaacgttaaacCttatttaaaagccaaacgtg	14	12	5	10	2	1	0	1	0	1	0	2	0	1	0	3	0	5	1	3	0	7	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr13:58298998C>T	ENST00000377918.3	+	4	3076	c.3050C>T	c.(3049-3051)cCt>cTt	p.P1017L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1017					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACGTTAAACCTTATTTAAAA	0.478																																					Melanoma(72;952 1291 1619 12849 33676)												0													111	109	110					13																	58298998		2203	4300	6503	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3050C>T	13.37:g.58298998C>T	ENSP00000367151:p.Pro1017Leu		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P1017L	ENST00000377918.3	37	c.3050	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780418	0.70222	.	.	ENSG00000118946	ENST00000377918	T	0.50277	0.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	L	0.48642	1.525	0.80722	D	1	B	0.26258	0.145	B	0.20955	0.032	T	0.21177	-1.0253	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1017	O14917	PCD17_HUMAN	L	1017	ENSP00000367151:P1017L	.	P	+	2	0	PCDH17	57196999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	CCT	PCDH17	-	NULL	ENSG00000118946		0.478	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	29	0	C	NM_001040429		58298998	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	T	T	58298998	C	T	58298998	3	4	157	1	0	0	0	0	1	0	0	0	11551	681	24	3	3064	3	PCDH17	13	58298998	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	22567629	58298998	56870880	143	40001											
DIAPH3	81624	genome.wustl.edu	37	chr13	60384942	60384942	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcttcatttctaataaaCgctttttcttttgttggcgt	7	20	6	8	2	4	0	1	0	3	0	4	0	4	0	0	1	1	2	0	1	3	9			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr13:60384942C>G	ENST00000400324.4	-	25	3363	c.3143G>C	c.(3142-3144)cGt>cCt	p.R1048P	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R1037P|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R978P|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R1002P|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R1048P|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R1048P	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1048					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)		TTCTAATAAACGCTTTTTCTT	0.303																																																	0													152	140	144					13																	60384942		1800	4061	5861	SO:0001583	missense	0			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.3143G>C	13.37:g.60384942C>G	ENSP00000383178:p.Arg1048Pro		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.R1048P	ENST00000400324.4	37	c.3143	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393763	0.62066	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.53;-1.52;-1.52;-1.52	5.37	3.58	0.41010	Actin-binding FH2/DRF autoregulatory (1);	0.266045	0.35936	N	0.002891	T	0.73760	0.3628	L	0.55103	1.725	0.27964	N	0.936656	B;P	0.43094	0.013;0.799	B;B	0.39738	0.046;0.308	T	0.67245	-0.5719	10	0.48119	T	0.1	.	8.303	0.32025	0.1556:0.7614:0.0:0.083	.	785;1048	Q9NSV4-1;Q9NSV4	.;DIAP3_HUMAN	P	1048;1048;1037;1002;978;1037;978;1002;1048;785	ENSP00000383178:R1048P;ENSP00000383184:R1048P;ENSP00000367141:R1037P;ENSP00000383173:R978P;ENSP00000383174:R1002P;ENSP00000267215:R1048P	ENSP00000267214:R785P	R	-	2	0	DIAPH3	59282943	0.986000	0.35501	0.958000	0.39756	0.939000	0.58152	1.179000	0.31993	0.708000	0.31955	0.591000	0.81541	CGT	DIAPH3	-	smart_FH2_Formin	ENSG00000139734		0.303	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	-	0	28	0	C	NM_001042517		60384942	-1	tier1	-	no_errors	ENST00000400324	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.981	G	G	60384942	C	G	60384942	3	3	157	1	0	0	0	0	1	0	0	0	4534	536	19	5	474	5	DIAPH3	13	60384942	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	2085944	60384942	54784936	144	40002											
SCEL	8796	genome.wustl.edu	37	chr13	78171713	78171713	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctcatcaaaatgaacaaAagcttgaataggtaagattt	19	11	6	5	0	2	3	2	2	1	1	3	3	2	3	0	1	2	2	0	1	9	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr13:78171713A>C	ENST00000349847.3	+	13	870	c.786A>C	c.(784-786)aaA>aaC	p.K262N	SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000377246.3_Missense_Mutation_p.K242N|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000535157.1_Missense_Mutation_p.K240N|SCEL-AS1_ENST00000456280.2_RNA	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	262	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAATGAACAAAAGCTTGAATA	0.333																																																	0													94	91	92					13																	78171713		2188	4294	6482	SO:0001583	missense	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.786A>C	13.37:g.78171713A>C	ENSP00000302579:p.Lys262Asn		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.K262N	ENST00000349847.3	37	c.786	CCDS9459.1	13	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151568	0.57151	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.32988	1.43;1.43;1.43	4.74	4.74	0.60224	.	0.000000	0.56097	D	0.000036	T	0.49474	0.1559	M	0.68952	2.095	0.39864	D	0.973418	D;D;D	0.76494	0.999;0.997;0.999	D;P;D	0.66084	0.913;0.908;0.941	T	0.55159	-0.8184	10	0.87932	D	0	-28.9919	10.7993	0.46478	1.0:0.0:0.0:0.0	.	240;242;262	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	N	219;240;242;262	ENSP00000437895:K240N;ENSP00000366454:K242N;ENSP00000302579:K262N	ENSP00000315127:K219N	K	+	3	2	SCEL	77069714	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.396000	0.44468	2.102000	0.63906	0.533000	0.62120	AAA	SCEL	-	NULL	ENSG00000136155		0.333	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	-	0	59	0	A	NM_144777		78171713	1	tier1	-	no_errors	ENST00000349847	ensembl	human	known	74_37	missense	61.90	24	39	SNP	1.000	C	C	78171713	A	C	78171713	3	2	157	1	0	0	0	0	1	0	0	0	13933	11	1	4	832	4	SCEL	13	78171713	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	17786771	78171713	36998165	145	40003											
OR11H4	390442	genome.wustl.edu	37	chr14	20711241	20711241	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctagtcaacattctctcCaagaccaaggccatctcatt	12	11	5	13	0	3	1	2	0	2	1	6	1	4	1	3	1	2	1	3	1	4	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr14:20711241C>G	ENST00000315409.2	+	1	344	c.291C>G	c.(289-291)tcC>tcG	p.S97S		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ACATTCTCTCCAAGACCAAGG	0.438																																																	0													144	144	144					14																	20711241		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"GPCR / Class A : Olfactory receptors"	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.291C>G	14.37:g.20711241C>G			B2RNQ4|Q6IF07	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S97	ENST00000315409.2	37	c.291	CCDS32034.1	14																																																																																			OR11H4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176198		0.438	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H4	HGNC	protein_coding	OTTHUMT00000410678.1	-	0	58	0	C			20711241	1	tier1	-	no_errors	ENST00000315409	ensembl	human	known	74_37	silent	6.98	80	6	SNP	0.066	G	G	20711241	C	G	20711241	2	3	157	1	0	0	0	0	0	0	0	1	10967	581	21	5		5	OR11H4	14	20711241	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09		20711241	86638299	146	40004											
FANCM	57697	genome.wustl.edu	37	chr14	45656996	45656996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacacagattctgaaatgaGagctatttacatgaaatctt	15	14	6	6	0	2	4	0	3	2	2	2	5	2	4	0	0	3	1	0	0	5	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr14:45656996G>T	ENST00000267430.5	+	19	4770	c.4685G>T	c.(4684-4686)aGa>aTa	p.R1562I	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.R1536I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1562					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						TCTGAAATGAGAGCTATTTAC	0.254								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													47	46	46					14																	45656996		2202	4296	6498	SO:0001583	missense	0	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.4685G>T	14.37:g.45656996G>T	ENSP00000267430:p.Arg1562Ile		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1562I	ENST00000267430.5	37	c.4685	CCDS32070.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.61|19.61	3.860813|3.860813	0.71834|0.71834	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.78364	.|-1.17;-1.17;-1.17	5.22|5.22	4.21|4.21	0.49690|0.49690	.|.	.|0.393291	.|0.29972	.|N	.|0.010735	D|D	0.83133|0.83133	0.5188|0.5188	M|M	0.67953|0.67953	2.075|2.075	0.48040|0.48040	D|D	0.999575|0.999575	.|D;D	.|0.76494	.|0.999;0.998	.|D;P	.|0.66196	.|0.942;0.896	D|D	0.83624|0.83624	0.0141|0.0141	5|10	.|0.72032	.|D	.|0.01	.|.	7.1533|7.1533	0.25622|0.25622	0.2299:0.0:0.7701:0.0|0.2299:0.0:0.7701:0.0	.|.	.|1536;1562	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	D|I	494|1562;1536;1078	.|ENSP00000267430:R1562I;ENSP00000442493:R1536I;ENSP00000452033:R1078I	.|ENSP00000267430:R1562I	E|R	+|+	3|2	2|0	FANCM|FANCM	44726746|44726746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.334000|1.334000	0.33827|0.33827	2.445000|2.445000	0.82738|0.82738	0.655000|0.655000	0.94253|0.94253	GAG|AGA	FANCM	-	NULL	ENSG00000187790		0.254	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0	41	0	G	XM_048128		45656996	1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	45656996	G	T	45656996	3	4	157	1	0	0	0	0	1	0	0	0	5693	942	33	3	4759	3	FANCM	14	45656996	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	24945755	45656996	61692544	147	40005											
HIF1A	3091	genome.wustl.edu	37	chr14	62207581	62207581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaaagcagttccgcaagcCctgaaagcgcaagtcctcaa	14	6	9	12	2	1	2	1	1	0	1	3	2	3	2	3	0	3	4	3	0	6	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr14:62207581C>T	ENST00000337138.4	+	12	2033	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	HIF1A_ENST00000557538.1_Missense_Mutation_p.P531S|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.P614S|HIF1A_ENST00000394997.1_Missense_Mutation_p.P591S|HIF1A_ENST00000323441.6_Missense_Mutation_p.P590S|RP11-618G20.1_ENST00000555937.1_RNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	590	ID.|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)	TTCCGCAAGCCCTGAAAGCGC	0.458																																																	0													138	130	133					14																	62207581		2203	4300	6503	SO:0001583	missense	0			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.1768C>T	14.37:g.62207581C>T	ENSP00000338018:p.Pro590Ser		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.P614S	ENST00000337138.4	37	c.1840	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298511	0.40694	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.39	4.49	0.54785	.	0.356387	0.31884	N	0.006918	T	0.33556	0.0867	L	0.29908	0.895	0.43564	D	0.995887	B;B;B	0.12013	0.002;0.005;0.005	B;B;B	0.12156	0.004;0.007;0.007	T	0.08638	-1.0712	10	0.16420	T	0.52	.	12.6752	0.56891	0.0:0.8727:0.0:0.1273	.	591;590;590	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	S	341;531;590;591;590;531;614	ENSP00000338018:P590S;ENSP00000378446:P591S;ENSP00000323326:P590S;ENSP00000451696:P531S;ENSP00000437955:P614S	ENSP00000323326:P590S	P	+	1	0	HIF1A	61277334	0.988000	0.35896	1.000000	0.80357	0.904000	0.53231	1.544000	0.36158	2.682000	0.91365	0.650000	0.86243	CCT	HIF1A	-	NULL	ENSG00000100644		0.458	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	-	0	61	0	C	NM_001530		62207581	1	tier1	-	no_errors	ENST00000539097	ensembl	human	known	74_37	missense	21.62	58	16	SNP	1.000	T	T	62207581	C	T	62207581	3	4	157	1	0	0	0	0	1	0	0	0	7130	623	22	3	1814	3	HIF1A	14	62207581	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	16550585	62207581	45141959	148	40006											
UNC13C	440279	genome.wustl.edu	37	chr15	54527275	54527276	+	Frame_Shift_Ins	INS	-	-	A																															agcatgccggatcttcgcagINSaaaaaaaactttgcctattg																										TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr15:54527275_54527276insA	ENST00000260323.11	+	4	3119_3120	c.3119_3120insA	c.(3118-3123)agaaaafs	p.RK1040fs	UNC13C_ENST00000545554.1_Frame_Shift_Ins_p.RK1040fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.RK1040fs	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)		GATCTTCGCAGAAAAAAAACTT	0.366																																																	0																																										SO:0001589	frameshift_variant	0			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.3127dupA	15.37:g.54527283_54527283dupA	ENSP00000260323:p.Arg1040fs		Q0P613|Q8ND48|Q96NP3	Frame_Shift_Ins	INS	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T1043fs	ENST00000260323.11	37	c.3119_3120	CCDS45264.1	15																																																																																			UNC13C	-	NULL	ENSG00000137766		0.366	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3		0	51	0	-	NM_173166		54527276	1	tier1		no_errors	ENST00000260323	ensembl	human	known	74_37	frame_shift_ins	30.77	27	12	INS	1.000:1.000	A	A	54527276	-	A	54527275	7	5	157	1	0	1	1	0	0	0	0	0	17035	942	33	0	3133	0	UNC13C	15	54527275	Frame_Shift_Ins	INS	-	TCGA-V5-A7RE-01A-11D-A351-09		54527275	48004117	149	40007											
CILP	8483	genome.wustl.edu	37	chr15	65489146	65489146	+	Silent	SNP	T	T	G	0	1	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	accctggcgctggccaccccTgctcgctcgctgctgcctcc	2	8	10	21	3	0	0	0	0	0	0	3	0	1	0	6	2	3	5	6	2	0	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr15:65489146T>G	ENST00000261883.4	-	9	3644	c.3478A>C	c.(3478-3480)Agg>Cgg	p.R1160R		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1160					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGGCCACCCCTGCTCGCTCGC	0.597																																																	0													39	38	39					15																	65489146		2202	4299	6501	SO:0001819	synonymous_variant	0			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3478A>C	15.37:g.65489146T>G			B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R1160	ENST00000261883.4	37	c.3478	CCDS10203.1	15																																																																																			CILP	-	NULL	ENSG00000138615		0.597	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	-	0	14	0	T	NM_003613		65489146	-1	tier1	-	no_errors	ENST00000261883	ensembl	human	known	74_37	silent	68.97	9	20	SNP	0.000	G	G	65489146	T	G	65489146	2	3	157	1	0	0	0	0	0	0	0	1	3436	1579	55	4		4	CILP	15	65489146	Silent	SNP	T	TCGA-V5-A7RE-01A-11D-A351-09	10961871	65489146	37042246	150	40008											
DIS3L	115752	genome.wustl.edu	37	chr15	66613011	66613011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaatcggagatctggaagggGaaattgcaaccatcctggtg	12	8	14	7	1	1	1	0	0	1	1	3	5	2	3	2	5	2	1	2	5	4	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr15:66613011G>A	ENST00000319212.4	+	9	1317	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	DIS3L_ENST00000319194.5_Missense_Mutation_p.E340K|DIS3L_ENST00000441424.2_Missense_Mutation_p.G232E|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	423					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTGGAAGGGGAAATTGCAAC	0.438																																																	0													187	176	180					15																	66613011		2201	4299	6500	SO:0001583	missense	0				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1267G>A	15.37:g.66613011G>A	ENSP00000321711:p.Glu423Lys		Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	NULL	p.E423K	ENST00000319212.4	37	c.1267	CCDS45286.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.840989|4.840989	0.91197|0.91197	.|.	.|.	ENSG00000166938|ENSG00000166938	ENST00000319194;ENST00000319212|ENST00000441424	T;T|T	0.50813|0.54866	0.73;0.73|0.55	5.18|5.18	4.26|4.26	0.50523|0.50523	.|.	0.207171|.	0.50627|.	D|.	0.000108|.	T|T	0.77418|0.77418	0.4127|0.4127	H|H	0.95437|0.95437	3.67|3.67	0.32359|0.32359	N|N	0.557499|0.557499	D;D;D|.	0.76494|.	0.997;0.999;0.999|.	D;D;D|.	0.76575|.	0.959;0.988;0.971|.	D|D	0.85701|0.85701	0.1313|0.1313	10|7	0.87932|0.87932	D|D	0|0	-6.8243|-6.8243	12.6919|12.6919	0.56980|0.56980	0.0799:0.0:0.9201:0.0|0.0799:0.0:0.9201:0.0	.|.	423;289;423|.	Q8TF46;Q8TF46-2;Q8TF46-3|.	DI3L1_HUMAN;.;.|.	K|E	340;423|232	ENSP00000321583:E340K;ENSP00000321711:E423K|ENSP00000388980:G232E	ENSP00000321583:E340K|ENSP00000388980:G232E	E|G	+|+	1|2	0|0	DIS3L|DIS3L	64400065|64400065	1.000000|1.000000	0.71417|0.71417	0.915000|0.915000	0.36163|0.36163	0.941000|0.941000	0.58515|0.58515	9.583000|9.583000	0.98217|0.98217	1.177000|1.177000	0.42855|0.42855	0.561000|0.561000	0.74099|0.74099	GAA|GGA	DIS3L	-	NULL	ENSG00000166938		0.438	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	-	0	54	0	G	NM_133375		66613011	1	tier1	-	no_errors	ENST00000319212	ensembl	human	known	74_37	missense	36.00	48	27	SNP	1.000	A	A	66613011	G	A	66613011	3	1	157	1	0	0	0	0	1	0	0	0	4550	1175	41	3	1301	3	DIS3L	15	66613011	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	1123865	66613011	35918381	151	40009											
ST8SIA2	8128	genome.wustl.edu	37	chr15	92981790	92981790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcaactcgggggtcttGctgaacagcggctgtgggca	6	8	18	9	2	1	1	0	1	1	0	2	1	1	1	0	5	4	4	0	5	2	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr15:92981790G>T	ENST00000268164.3	+	4	735	c.498G>T	c.(496-498)ttG>ttT	p.L166F	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.L145F	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	166					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)			CGGGGGTCTTGCTGAACAGCG	0.602																																																	0													58	51	53					15																	92981790		2198	4298	6496	SO:0001583	missense	0			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.498G>T	15.37:g.92981790G>T	ENSP00000268164:p.Leu166Phe		Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.L166F	ENST00000268164.3	37	c.498	CCDS10372.1	15	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910923	0.72983	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.63580	-0.05;-0.05;-0.05	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.86016	0.5832	H	0.98178	4.165	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.90627	0.4564	10	0.87932	D	0	-15.0807	13.3626	0.60665	0.0:0.0:0.8424:0.1576	.	145;166	C6G488;Q92186	.;SIA8B_HUMAN	F	166;145;123	ENSP00000268164:L166F;ENSP00000437382:L145F;ENSP00000450851:L123F	ENSP00000268164:L166F	L	+	3	2	ST8SIA2	90782794	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.183000	0.58317	2.332000	0.79248	0.563000	0.77884	TTG	ST8SIA2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000140557		0.602	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA2	HGNC	protein_coding	OTTHUMT00000313526.1		0	31	0	G	NM_006011		92981790	1			no_errors	ENST00000268164	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T	T	92981790	G	T	92981790	3	4	157	1	0	0	0	0	1	0	0	0	15279	1310	46	3	512	3	ST8SIA2	15	92981790	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	26368779	92981790	9549602	152	40010											
PCSK6	5046	genome.wustl.edu	37	chr15	101906495	101906495	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccagcagtggacagtcatGaattcccagtttgtaaaccc	11	9	8	13	0	1	1	1	1	0	0	2	2	2	2	4	1	2	3	4	1	3	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr15:101906495G>A	ENST00000348070.1	-	14	1760	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	PCSK6_ENST00000358417.3_Silent_p.F587F|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Silent_p.F587F|PCSK6_ENST00000344273.2_Silent_p.F587F|PCSK6_ENST00000331826.7_Silent_p.F422F	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	588					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGACAGTCATGAATTCCCAGT	0.527																																																	0													82	80	81					15																	101906495		1914	4128	6042	SO:0001819	synonymous_variant	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1761C>T	15.37:g.101906495G>A			Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.F587	ENST00000348070.1	37	c.1761		15																																																																																			PCSK6	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like	ENSG00000140479		0.527	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding			0	44	0	G	NM_002570		101906495	-1			no_errors	ENST00000348070	ensembl	human	known	74_37	silent	7.69	36	3	SNP	1.000	A	A	101906495	G	A	101906495	2	1	157	1	0	0	0	0	0	0	0	1	11643	1281	45	3		3	PCSK6	15	101906495	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	8924705	101906495	624897	153	40011											
ARHGDIG	398	genome.wustl.edu	37	chr16	331883	331883	+	Frame_Shift_Del	DEL	A	A	-																															cggacgacaggagcctggccAagtacaagcgggtgctgctg																										TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr16:331883delA	ENST00000219409.3	+	2	286	c.211delA	c.(211-213)aagfs	p.K71fs	PDIA2_ENST00000219406.6_5'Flank|PDIA2_ENST00000404312.1_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	71					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		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)				GAGCCTGGCCAAGTACAAGCG	0.692																																																	0													16	22	20					16																	331883		2138	4189	6327	SO:0001589	frameshift_variant	0			U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"RhoGDI gamma"	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.211delA	16.37:g.331883delA	ENSP00000219409:p.Lys71fs		Q4TT69|Q96S29	Frame_Shift_Del	DEL	pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI	p.K71fs	ENST00000219409.3	37	c.211	CCDS10404.1	16																																																																																			ARHGDIG	-	pfam_Rho_GDI,superfamily_Ig_E-set	ENSG00000242173		0.692	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGDIG	HGNC	protein_coding	OTTHUMT00000139321.1		0	39	0	A			331883	1	tier1		no_errors	ENST00000219409	ensembl	human	known	74_37	frame_shift_del	41.67	7	5	DEL	0.316	-	-	331883	A	-	331883	7	5	157	1	0	1	0	1	0	0	0	0	892	131	5	0	217	0	ARHGDIG	16	331883	Frame_Shift_Del	DEL	A	TCGA-V5-A7RE-01A-11D-A351-09		331883	90022870	154	40012											
KIAA0430	9665	genome.wustl.edu	37	chr16	15724221	15724221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtaacctggggggcaagtCggaaatgaactcttcaaatc	12	9	12	8	1	2	1	1	1	1	0	4	2	2	2	1	5	2	2	1	5	5	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr16:15724221C>T	ENST00000396368.3	-	7	1698	c.1492G>A	c.(1492-1494)Gac>Aac	p.D498N	KIAA0430_ENST00000551742.1_Missense_Mutation_p.D498N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.D320N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.D498N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.D495N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.D495N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	498					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						GGGGGCAAGTCGGAAATGAAC	0.438																																																	0													107	103	104					16																	15724221		1905	4136	6041	SO:0001583	missense	0			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.1492G>A	16.37:g.15724221C>T	ENSP00000379654:p.Asp498Asn		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.D498N	ENST00000396368.3	37	c.1492	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	C	36	5.718631	0.96839	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	6.05	6.05	0.98169	.	0.082852	0.85682	D	0.000000	T	0.78233	0.4251	M	0.64997	1.995	0.40419	D	0.979825	D;D;D;D	0.67145	0.996;0.995;0.995;0.993	D;P;P;D	0.71184	0.972;0.899;0.899;0.959	T	0.76271	-0.3020	9	0.48119	T	0.1	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	497;495;494;497	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	N	498;498;497;320;495;498;498	.	ENSP00000315718:D497N	D	-	1	0	KIAA0430	15631722	1.000000	0.71417	0.895000	0.35142	0.992000	0.81027	5.369000	0.66138	2.878000	0.98634	0.650000	0.86243	GAC	KIAA0430	-	NULL	ENSG00000166783		0.438	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	-	0	99	0	C	NM_014647		15724221	-1	tier1	-	no_errors	ENST00000396368	ensembl	human	known	74_37	missense	11.25	71	9	SNP	1.000	T	T	15724221	C	T	15724221	3	4	157	1	0	0	0	0	1	0	0	0	8204	884	31	1	3823	1	KIAA0430	16	15724221	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	15392338	15724221	74630532	155	40013											
THUMPD1	55623	genome.wustl.edu	37	chr16	20749250	20749250	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggttttgtacatatcctgGagaatatgatgcaccaattt	11	16	8	6	0	0	2	0	1	0	1	1	3	1	2	2	2	2	3	2	2	5	7			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr16:20749250G>T	ENST00000381337.2	-	3	779	c.435C>A	c.(433-435)ctC>ctA	p.L145L	THUMPD1_ENST00000431224.2_Silent_p.L231L|THUMPD1_ENST00000396083.2_Silent_p.L145L	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	145							poly(A) RNA binding (GO:0044822)			NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						ACATATCCTGGAGAATATGAT	0.318																																																	0													103	117	112					16																	20749250		2199	4300	6499	SO:0001819	synonymous_variant	0			BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.435C>A	16.37:g.20749250G>T			Q9BWC3	Silent	SNP	pfam_THUMP,smart_THUMP,pfscan_THUMP	p.L231	ENST00000381337.2	37	c.693	CCDS10588.1	16																																																																																			THUMPD1	-	NULL	ENSG00000066654		0.318	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THUMPD1	HGNC	protein_coding	OTTHUMT00000254420.1	-	0	47	0	G	NM_017736		20749250	-1	tier1	-	no_errors	ENST00000431224	ensembl	human	known	74_37	silent	42.31	30	22	SNP	0.997	T	T	20749250	G	T	20749250	2	4	157	1	0	0	0	0	0	0	0	1	15929	1161	41	3		3	THUMPD1	16	20749250	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	5025029	20749250	69605503	156	40014											
ZNF423	23090	genome.wustl.edu	37	chr16	49669664	49669664	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatgtggctctccaggtcTtcggcactctcaaacttgac	7	12	9	13	1	3	1	1	1	3	0	6	1	3	1	1	3	2	3	1	3	1	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr16:49669664T>G	ENST00000561648.1	-	4	3452	c.3399A>C	c.(3397-3399)gaA>gaC	p.E1133D	ZNF423_ENST00000262383.2_Missense_Mutation_p.E1133D|ZNF423_ENST00000567169.1_Missense_Mutation_p.E1016D|ZNF423_ENST00000562520.1_Missense_Mutation_p.E1073D|ZNF423_ENST00000563137.2_Missense_Mutation_p.E1073D|ZNF423_ENST00000562871.1_Missense_Mutation_p.E1073D|ZNF423_ENST00000535559.1_Missense_Mutation_p.E1016D	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1133					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)				TCTCCAGGTCTTCGGCACTCT	0.692																																																	0													67	67	67					16																	49669664		2199	4300	6499	SO:0001583	missense	0			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.3399A>C	16.37:g.49669664T>G	ENSP00000455426:p.Glu1133Asp		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1133D	ENST00000561648.1	37	c.3399	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047589	0.36085	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09350	2.99;3.01	5.04	1.9	0.25705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.07143	0.0181	L	0.27053	0.805	0.37918	D	0.931582	B	0.19445	0.036	B	0.29176	0.099	T	0.32402	-0.9908	9	.	.	.	-23.839	6.1898	0.20518	0.0:0.3946:0.0:0.6054	.	1133	Q2M1K9	ZN423_HUMAN	D	1133;1016	ENSP00000262383:E1133D;ENSP00000442321:E1016D	.	E	-	3	2	ZNF423	48227165	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	0.687000	0.25407	0.455000	0.26910	-0.366000	0.07423	GAA	ZNF423	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000102935		0.692	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	-	0	30	0	T	NM_015069		49669664	-1	tier1	-	no_errors	ENST00000262383	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	G	G	49669664	T	G	49669664	3	3	157	1	0	0	0	0	1	0	0	0	17946	1606	56	4	475	4	ZNF423	16	49669664	Missense_Mutation	SNP	T	TCGA-V5-A7RE-01A-11D-A351-09	28920414	49669664	40685089	157	40015											
CDH8	1006	genome.wustl.edu	37	chr16	61851478	61851478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaacttcaagtaggtaagtCggtgaagagaagaccggagg	14	7	15	5	2	1	4	1	2	0	2	2	6	1	5	1	4	1	2	1	4	6	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr16:61851478C>T	ENST00000577390.1	-	7	2136	c.1182G>A	c.(1180-1182)ccG>ccA	p.P394P	CDH8_ENST00000299345.6_Silent_p.P394P|CDH8_ENST00000577730.1_Silent_p.P394P|CDH8_ENST00000584337.1_Silent_p.P394P	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	394	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)		GTAGGTAAGTCGGTGAAGAGA	0.483																																																	0													96	84	88					16																	61851478		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1182G>A	16.37:g.61851478C>T			B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P394	ENST00000577390.1	37	c.1182	CCDS10802.1	16																																																																																			CDH8	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150394		0.483	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	-	0	66	0	C	NM_001796		61851478	-1	tier1	-	no_errors	ENST00000577390	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.000	T	T	61851478	C	T	61851478	2	4	157	1	0	0	0	0	0	0	0	1	3123	871	31	1		1	CDH8	16	61851478	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	12181814	61851478	28503275	158	40016											
NOB1	28987	genome.wustl.edu	37	chr16	69778842	69778842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcagggtgccgtcgtcGctgacggtcacggacacttt	6	10	14	11	5	1	1	1	1	0	0	3	2	1	2	1	3	2	2	1	3	0	1	rs147206895		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr16:69778842G>A	ENST00000268802.5	-	8	932	c.903C>T	c.(901-903)agC>agT	p.S301S	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	301					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						TGCCGTCGTCGCTGACGGTCA	0.612																																																	0								G		0,4396		0,0,2198	85	65	72		903	-1.9	0	16	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NOB1	NM_014062.1		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		301/413	69778842	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			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.903C>T	16.37:g.69778842G>A			Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease	p.S301	ENST00000268802.5	37	c.903	CCDS10884.1	16																																																																																			NOB1	-	pfam_NOB1_Zn-bd,pirsf_D-site_20S_pre-rRNA_nuclease	ENSG00000141101		0.612	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOB1	HGNC	protein_coding	OTTHUMT00000268958.2	-	0	44	0	G	NM_014062		69778842	-1	tier1	rs147206895	no_errors	ENST00000268802	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.144	A	A	69778842	G	A	69778842	2	1	157	1	0	0	0	0	0	0	0	1	10550	1078	38	1		1	NOB1	16	69778842	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	7927364	69778842	20575911	159	40017											
HYDIN	54768	genome.wustl.edu	37	chr16	71009107	71009107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatcaggggtggttgttttCtgatgttctaggacatagct	7	15	14	5	0	3	1	1	1	2	0	3	3	3	3	0	5	1	4	0	5	2	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr16:71009107C>T	ENST00000393567.2	-	31	4854	c.4704G>A	c.(4702-4704)caG>caA	p.Q1568Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1568					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)				TGGTTGTTTTCTGATGTTCTA	0.488																																																	0													1	1	1					16																	71009107		1116	2421	3537	SO:0001819	synonymous_variant	0			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.4704G>A	16.37:g.71009107C>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.Q1568	ENST00000393567.2	37	c.4704	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	23	0	C			71009107	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	silent	35.00	13	7	SNP	0.139	T	T	71009107	C	T	71009107	2	4	157	1	0	0	0	0	0	0	0	1	7494	912	32	3		3	HYDIN	16	71009107	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	1230265	71009107	19345646	160	40018											
SCARF1	8578	genome.wustl.edu	37	chr17	1538715	1538715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggctttcggagcgggctGgagagctcccctgagcttcg	4	10	16	11	3	0	2	0	1	0	1	3	4	1	3	2	4	3	4	2	4	0	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:1538715G>A	ENST00000263071.4	-	11	1879	c.1830C>T	c.(1828-1830)tcC>tcT	p.S610S	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Silent_p.S524S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	610	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)		GGAGCGGGCTGGAGAGCTCCC	0.677																																																	0													52	55	54					17																	1538715		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1830C>T	17.37:g.1538715G>A			A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.S610	ENST00000263071.4	37	c.1830	CCDS11007.1	17																																																																																			SCARF1	-	NULL	ENSG00000074660		0.677	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	-	0	49	0	G	NM_003693		1538715	-1	tier1	-	no_errors	ENST00000263071	ensembl	human	known	74_37	silent	8.45	65	6	SNP	0.983	A	A	1538715	G	A	1538715	2	1	157	1	0	0	0	0	0	0	0	1	13928	1335	47	3		3	SCARF1	17	1538715	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09		1538715	79656495	161	40019											
TP53	7157	genome.wustl.edu	37	chr17	7577017	7577017	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttcttgtcctgcttgcttAcctcgcttagtgctccctgg	2	16	9	14	1	1	0	0	0	1	0	4	0	3	0	3	1	4	5	3	1	2	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:7577017A>C	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|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						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.?(6)|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)	CTGCTTGCTTACCTCGCTTAG	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"	16	Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(2)	bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|lung(2)|stomach(1)|urinary_tract(1)|ovary(1)											128	112	117					17																	7577017		2203	4300	6503	SO:0001630	splice_region_variant	0	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+1T>G	17.37:g.7577017A>C			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	-	e7+2	ENST00000269305.4	37	c.919+2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	8.950	0.968007	0.18659	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7248	0.28753	0.8139:0.0:0.0:0.1861	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517742	1.000000	0.71417	0.780000	0.31762	0.217000	0.24651	7.280000	0.78610	0.855000	0.35359	0.459000	0.35465	.	TP53	-	-	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	62	0	A	NM_000546	Intron	7577017	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	57.89	16	22	SNP	0.853	C	C	7577017	A	C	7577017	5	2	157	1	0	0	0	0	0	0	1	0	16429	405	14	4	365	4	TP53	17	7577017	Splice_Site	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	6038302	7577017	73618193	162	40020											
SMCR7	125170	genome.wustl.edu	37	chr17	18167166	18167166	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtggctttggccaaacaGctggctggcgacatcgccct	7	8	13	13	2	0	0	0	0	0	0	1	1	0	0	2	5	2	3	2	5	1	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:18167166G>C	ENST00000323019.4	+	4	664	c.453G>C	c.(451-453)caG>caC	p.Q151H	MIEF2_ENST00000577216.1_3'UTR|MIEF2_ENST00000395704.4_Missense_Mutation_p.A127P|MIEF2_ENST00000395706.2_Missense_Mutation_p.Q162H	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	151					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											TGGCCAAACAGCTGGCTGGCG	0.657																																																	0													40	39	39					17																	18167166		2203	4299	6502	SO:0001583	missense	0			BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.453G>C	17.37:g.18167166G>C	ENSP00000323591:p.Gln151His		J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	NULL	p.Q151H	ENST00000323019.4	37	c.453	CCDS11193.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.54|15.54	2.865086|2.865086	0.51482|0.51482	.|.	.|.	ENSG00000177427|ENSG00000177427	ENST00000395704|ENST00000323019;ENST00000395706	T|T;T	0.37752|0.13196	1.18|2.62;2.61	5.32|5.32	3.33|3.33	0.38152|0.38152	.|.	.|0.253708	.|0.41097	.|D	.|0.000942	T|T	0.31263|0.31263	0.0791|0.0791	.|.	.|.	.|.	0.41790|0.41790	D|D	0.989863|0.989863	D|D	0.67145|0.76494	0.996|0.999	P|P	0.61201|0.59703	0.885|0.862	T|T	0.07328|0.07328	-1.0778|-1.0778	8|9	0.41790|0.87932	T|D	0.15|0	-39.1365|-39.1365	11.8225|11.8225	0.52247|0.52247	0.1428:0.0:0.8572:0.0|0.1428:0.0:0.8572:0.0	.|.	127|151	Q96C03-2|Q96C03	.|MID49_HUMAN	P|H	127|151;162	ENSP00000379056:A127P|ENSP00000323591:Q151H;ENSP00000379057:Q162H	ENSP00000379056:A127P|ENSP00000323591:Q151H	A|Q	+|+	1|3	0|2	SMCR7|SMCR7	18107891|18107891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	5.547000|5.547000	0.67249|0.67249	0.632000|0.632000	0.30432|0.30432	-0.251000|-0.251000	0.11542|0.11542	GCT|CAG	MIEF2	-	NULL	ENSG00000177427		0.657	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEF2	HGNC	protein_coding	OTTHUMT00000132060.2	-	0	26	0	G	NM_139162		18167166	1	tier1	-	no_errors	ENST00000323019	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	C	C	18167166	G	C	18167166	3	2	157	1	0	0	0	0	1	0	0	0	14835	971	34	5	500	5	SMCR7	17	18167166	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	10590149	18167166	63028044	163	40021											
FOXN1	8456	genome.wustl.edu	37	chr17	26851109	26851109	+	Splice_Site	SNP	G	G	A	0	0	1	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	aggctcccctgccccacagaGtgtaagtacccggcatctgg	8	7	11	15	1	1	1	0	0	1	1	2	1	2	1	5	3	2	4	5	3	2	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:26851109G>A	ENST00000226247.2	+	1	151	c.122G>A	c.(121-123)aGt>aAt	p.S41N	FOXN1_ENST00000579795.1_Splice_Site_p.S41N	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	41					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)					GCCCCACAGAGTGTAAGTACC	0.682																																																	0													10	10	10					17																	26851109		2192	4284	6476	SO:0001630	splice_region_variant	0			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.123+1G>A	17.37:g.26851109G>A			B2R9Q7|O15352	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S41N	ENST00000226247.2	37	c.122	CCDS11232.1	17	.	.	.	.	.	.	.	.	.	.	G	7.157	0.584989	0.13749	.	.	ENSG00000109101	ENST00000226247	D	0.92699	-3.09	5.03	0.129	0.14739	.	0.431911	0.24229	N	0.040373	T	0.76912	0.4054	N	0.08118	0	0.21933	N	0.99947	B	0.02656	0.0	B	0.04013	0.001	T	0.62383	-0.6866	10	0.06099	T	0.92	.	7.9671	0.30104	0.3666:0.0:0.6334:0.0	.	41	O15353	FOXN1_HUMAN	N	41	ENSP00000226247:S41N	ENSP00000226247:S41N	S	+	2	0	FOXN1	23875236	0.037000	0.19845	0.969000	0.41365	0.619000	0.37552	-0.171000	0.09883	-0.133000	0.11537	0.561000	0.74099	AGT	FOXN1	-	NULL	ENSG00000109101		0.682	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	HGNC	protein_coding	OTTHUMT00000255832.1	-	0	94	0	G		Missense_Mutation	26851109	1	tier1	-	no_errors	ENST00000226247	ensembl	human	known	74_37	missense	86.06	87	537	SNP	0.974	A	A	26851109	G	A	26851109	5	1	157	1	0	0	0	0	0	0	1	0	6043	1043	36	3	124	3	FOXN1	17	26851109	Splice_Site	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	8683943	26851109	54344101	164	40022											
PROCA1	6830	genome.wustl.edu	37	chr17	27030613	27030613	+	IGR	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatcctgggggagattttCtcttgtttaccttcctggct	4	18	10	9	0	1	2	0	1	1	1	4	3	3	2	3	3	1	2	3	3	1	7			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:27030613C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000439862.3_Missense_Mutation_p.R327K|PROCA1_ENST00000301039.2_Missense_Mutation_p.R325K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						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)					GGGAGATTTTCTCTTGTTTAC	0.537																																																	0													112	111	112					17																	27030613		2203	4300	6503	SO:0001628	intergenic_variant	0			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			17.37:g.27030613C>T			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_PLipase_A2,superfamily_PLipase_A2_dom	p.R327K	ENST00000314616.6	37	c.980	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775069	0.49786	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.04654	3.58;3.58	4.84	2.86	0.33363	.	0.238357	0.32328	N	0.006258	T	0.07818	0.0196	N	0.20986	0.625	0.24983	N	0.991585	D;P;P	0.64830	0.994;0.734;0.734	D;B;B	0.70716	0.97;0.203;0.203	T	0.28332	-1.0047	10	0.25106	T	0.35	-24.7794	6.396	0.21613	0.0:0.787:0.0:0.213	.	353;327;325	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	K	325;327;353	ENSP00000301039:R325K;ENSP00000411400:R327K	ENSP00000301039:R325K	R	-	2	0	PROCA1	24054740	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.024000	0.30077	1.338000	0.45544	0.655000	0.94253	AGA	PROCA1	-	NULL	ENSG00000167525		0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	36	0	C	NM_003170		27030613	-1	tier1	-	no_errors	ENST00000439862	ensembl	human	known	74_37	missense	43.44	345	265	SNP	1.000	T	T	27030613	C	T	27030613	1	4	157	0	1	0	0	0	0	0	0	0	12588	913	32	3		3	PROCA1	17	27030613	IGR	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	179504	27030613	54164597	165	40023			1	44		9	8	1232	N	C	6.055098e-19
PROCA1	6830	genome.wustl.edu	37	chr17	27030654	27030654	+	IGR	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgagggctttgcccctgtCtttttggcctggactgtgtt	2	17	13	9	0	1	1	0	1	1	0	1	2	1	2	3	3	1	2	3	3	0	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:27030654C>G	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000439862.3_Missense_Mutation_p.K313N|PROCA1_ENST00000301039.2_Missense_Mutation_p.K311N|PROCA1_ENST00000581289.1_3'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						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)					TTGCCCCTGTCTTTTTGGCCT	0.547																																																	0													113	111	112					17																	27030654		2203	4300	6503	SO:0001628	intergenic_variant	0			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			17.37:g.27030654C>G			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_PLipase_A2,superfamily_PLipase_A2_dom	p.K313N	ENST00000314616.6	37	c.939	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618093	0.28801	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.04809	3.55;3.55	4.84	0.421	0.16451	.	0.244211	0.32533	N	0.005976	T	0.07593	0.0191	L	0.32530	0.975	0.19575	N	0.999965	D;D;D	0.63046	0.961;0.992;0.992	P;P;P	0.57101	0.541;0.813;0.813	T	0.16100	-1.0414	10	0.72032	D	0.01	-24.0622	7.4189	0.27061	0.0:0.6058:0.0:0.3942	.	339;313;311	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	N	311;313;339	ENSP00000301039:K311N;ENSP00000411400:K313N	ENSP00000301039:K311N	K	-	3	2	PROCA1	24054781	0.077000	0.21312	0.029000	0.17559	0.017000	0.09413	0.102000	0.15272	0.018000	0.15052	-0.140000	0.14226	AAG	PROCA1	-	NULL	ENSG00000167525		0.547	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	33	0	C	NM_003170		27030654	-1	tier1	-	no_errors	ENST00000439862	ensembl	human	known	74_37	missense	40.85	373	261	SNP	0.094	G	G	27030654	C	G	27030654	1	3	157	0	1	0	0	0	0	0	0	0	12588	912	32	5		5	PROCA1	17	27030654	IGR	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	41	27030654	54164556	166	40024			1	44		9	8	1232	N	C	6.055098e-19
PROCA1	6830	genome.wustl.edu	37	chr17	27030761	27030761	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgtaactgtcctcgctctCcagctcttcccggctttctg	4	15	7	15	2	3	0	0	0	3	0	7	0	5	0	3	1	2	4	3	1	1	4	rs547305035		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:27030761C>A	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000439862.3_Nonsense_Mutation_p.E278*|PROCA1_ENST00000301039.2_Nonsense_Mutation_p.E276*|PROCA1_ENST00000581289.1_3'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						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)					TCCTCGCTCTCCAGCTCTTCC	0.577																																																	0													100	98	98					17																	27030761		2203	4300	6503	SO:0001628	intergenic_variant	0			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			17.37:g.27030761C>A			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	pfam_PLipase_A2,superfamily_PLipase_A2_dom	p.E278*	ENST00000314616.6	37	c.832	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.103677	0.94245	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	.	.	.	5.27	5.27	0.74061	.	0.404229	0.23610	N	0.046356	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.967	14.739	0.69440	0.0:1.0:0.0:0.0	.	.	.	.	X	276;278;304	.	ENSP00000301039:E276X	E	-	1	0	PROCA1	24054888	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	3.687000	0.54692	2.599000	0.87857	0.655000	0.94253	GAG	PROCA1	-	NULL	ENSG00000167525		0.577	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	24	0	C	NM_003170		27030761	-1	tier1	-	no_errors	ENST00000439862	ensembl	human	known	74_37	nonsense	45.23	241	199	SNP	0.994	A	A	27030761	C	A	27030761	1	1	157	0	1	0	0	0	0	0	0	0	12588	864	30	3		3	PROCA1	17	27030761	IGR	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	107	27030761	54164449	167	40025			1	44		9	8	1232	N	C	6.055098e-19
PROCA1	6830	genome.wustl.edu	37	chr17	27030779	27030779	+	IGR	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagctcttcccggctttCtgggctggactcggacatcc	4	11	10	16	2	2	0	0	0	2	0	6	2	5	2	3	4	1	3	3	4	0	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:27030779C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000439862.3_Missense_Mutation_p.E272K|PROCA1_ENST00000301039.2_Missense_Mutation_p.E270K|PROCA1_ENST00000581289.1_3'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						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)					TCCCGGCTTTCTGGGCTGGAC	0.567																																																	0													97	97	97					17																	27030779		2203	4300	6503	SO:0001628	intergenic_variant	0			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			17.37:g.27030779C>T			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_PLipase_A2,superfamily_PLipase_A2_dom	p.E272K	ENST00000314616.6	37	c.814	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413998	0.83449	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.05025	3.51;3.51	5.27	5.27	0.74061	.	0.734280	0.12403	N	0.471997	T	0.06280	0.0162	N	0.14661	0.345	0.30320	N	0.787706	P;P;P	0.46142	0.651;0.873;0.873	B;B;B	0.42361	0.115;0.385;0.385	T	0.14587	-1.0467	10	0.54805	T	0.06	-5.722	14.739	0.69440	0.0:1.0:0.0:0.0	.	298;272;270	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	K	270;272;298	ENSP00000301039:E270K;ENSP00000411400:E272K	ENSP00000301039:E270K	E	-	1	0	PROCA1	24054906	0.986000	0.35501	0.996000	0.52242	0.994000	0.84299	3.436000	0.52856	2.599000	0.87857	0.655000	0.94253	GAA	PROCA1	-	NULL	ENSG00000167525		0.567	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	23	0	C	NM_003170		27030779	-1	tier1	-	no_errors	ENST00000439862	ensembl	human	known	74_37	missense	41.23	247	174	SNP	0.995	T	T	27030779	C	T	27030779	1	4	157	0	1	0	0	0	0	0	0	0	12588	922	32	3		3	PROCA1	17	27030779	IGR	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	18	27030779	54164431	168	40026			1	44		9	8	1232	N	C	6.055098e-19
PROCA1	6830	genome.wustl.edu	37	chr17	27030811	27030811	+	IGR	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggacatcctggccagctgtCttgcgcttaatgatcggctc	6	11	11	13	3	1	1	0	1	1	0	4	2	2	2	2	3	2	3	2	3	1	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:27030811C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000439862.3_Missense_Mutation_p.R261K|PROCA1_ENST00000301039.2_Missense_Mutation_p.R259K|PROCA1_ENST00000581289.1_3'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						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)					GGCCAGCTGTCTTGCGCTTAA	0.557																																																	0													105	107	106					17																	27030811		2203	4300	6503	SO:0001628	intergenic_variant	0			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			17.37:g.27030811C>T			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_PLipase_A2,superfamily_PLipase_A2_dom	p.R261K	ENST00000314616.6	37	c.782	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	c	22.1	4.245017	0.79912	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.04862	3.54;3.54	4.97	4.97	0.65823	.	0.096626	0.43579	D	0.000557	T	0.14917	0.0360	L	0.34521	1.04	0.28159	N	0.929077	D;D;D	0.67145	0.994;0.996;0.996	D;D;D	0.76071	0.97;0.987;0.987	T	0.03051	-1.1078	10	0.36615	T	0.2	-10.8405	14.0644	0.64819	0.0:1.0:0.0:0.0	.	287;261;259	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	K	259;261;287	ENSP00000301039:R259K;ENSP00000411400:R261K	ENSP00000301039:R259K	R	-	2	0	PROCA1	24054938	0.058000	0.20735	0.477000	0.27303	0.638000	0.38207	2.006000	0.40874	2.434000	0.82447	0.651000	0.88453	AGA	PROCA1	-	NULL	ENSG00000167525		0.557	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	21	0	C	NM_003170		27030811	-1	tier1	-	no_errors	ENST00000439862	ensembl	human	known	74_37	missense	41.18	239	168	SNP	0.892	T	T	27030811	C	T	27030811	1	4	157	0	1	0	0	0	0	0	0	0	12588	913	32	3		3	PROCA1	17	27030811	IGR	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	32	27030811	54164399	169	40027			1	44		9	8	1232	N	C	6.055098e-19
PROCA1	6830	genome.wustl.edu	37	chr17	27030923	27030923	+	IGR	SNP	C	C	T																															cttcagctttgccttctcatCcatctcctccttgtctttct																										TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:27030923C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000439862.3_Missense_Mutation_p.D224N|PROCA1_ENST00000301039.2_Missense_Mutation_p.D222N|PROCA1_ENST00000581289.1_3'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						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)					gccttctcatccatctcctcc	0.498																																																	0													84	86	85					17																	27030923		2202	4300	6502	SO:0001628	intergenic_variant	0			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			17.37:g.27030923C>T			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_PLipase_A2,superfamily_PLipase_A2_dom	p.D224N	ENST00000314616.6	37	c.670	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063231	0.76187	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.04706	3.57;3.57	5.27	5.27	0.74061	.	3.353030	0.01057	N	0.004570	T	0.16385	0.0394	L	0.32530	0.975	0.39941	D	0.974413	D;D;D	0.76494	0.993;0.999;0.998	P;D;P	0.66351	0.805;0.943;0.904	T	0.01378	-1.1370	10	0.33940	T	0.23	-11.7804	14.739	0.69440	0.0:1.0:0.0:0.0	.	250;224;222	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	N	222;224;250	ENSP00000301039:D222N;ENSP00000411400:D224N	ENSP00000301039:D222N	D	-	1	0	PROCA1	24055050	0.008000	0.16893	0.904000	0.35570	0.617000	0.37484	0.868000	0.27982	2.599000	0.87857	0.655000	0.94253	GAT	PROCA1	-	NULL	ENSG00000167525		0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2		0	15	0	C	NM_003170		27030923	-1			no_errors	ENST00000439862	ensembl	human	known	74_37	missense	49.85	160	161	SNP	0.978	T	T	27030923	C	T	27030923	1	4	157	0	1	0	0	0	0	0	0	0	12588	855	30	3		3	PROCA1	17	27030923	IGR	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	112	27030923	54164287	170	40028	139	2	1	44		9	8	1232	N	C	6.055098e-19
PROCA1	6830	genome.wustl.edu	37	chr17	27030929	27030929	+	IGR	SNP	C	C	T																															ctttgccttctcatccatctCctccttgtctttctcttttt																										TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:27030929C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000439862.3_Missense_Mutation_p.E222K|PROCA1_ENST00000301039.2_Missense_Mutation_p.E220K|PROCA1_ENST00000581289.1_3'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						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)					tcatccatctcctccttgtct	0.493																																																	0													80	81	81					17																	27030929		2202	4300	6502	SO:0001628	intergenic_variant	0			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			17.37:g.27030929C>T			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_PLipase_A2,superfamily_PLipase_A2_dom	p.E222K	ENST00000314616.6	37	c.664	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	c	12.46	1.944197	0.34283	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.04917	3.53;3.53	4.84	3.6	0.41247	.	1.056300	0.07409	N	0.892147	T	0.05593	0.0147	N	0.24115	0.695	0.28148	N	0.929512	B;B;B	0.23058	0.079;0.0;0.0	B;B;B	0.21546	0.035;0.002;0.002	T	0.38757	-0.9646	10	0.33141	T	0.24	-10.318	7.5073	0.27553	0.0:0.8335:0.0:0.1665	.	248;222;220	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	K	220;222;248	ENSP00000301039:E220K;ENSP00000411400:E222K	ENSP00000301039:E220K	E	-	1	0	PROCA1	24055056	0.012000	0.17670	0.793000	0.32043	0.346000	0.29079	0.523000	0.22925	0.994000	0.38892	0.655000	0.94253	GAG	PROCA1	-	NULL	ENSG00000167525		0.493	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2		0	14	0	C	NM_003170		27030929	-1			no_errors	ENST00000439862	ensembl	human	known	74_37	missense	50.00	161	161	SNP	0.938	T	T	27030929	C	T	27030929	1	4	157	0	1	0	0	0	0	0	0	0	12588	864	30	3		3	PROCA1	17	27030929	IGR	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	6	27030929	54164281	171	40029	139	2	1	44		9	8	1232	N	C	6.055098e-19
PROCA1	6830	genome.wustl.edu	37	chr17	27031741	27031741	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctagaattacagttgCagtggttgacagagtgtagg	11	11	12	7	0	1	3	1	1	0	2	1	3	1	3	1	2	2	4	1	2	4	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:27031741C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.C73Y|PROCA1_ENST00000301039.2_Missense_Mutation_p.C71Y|PROCA1_ENST00000581289.1_Intron	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						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)					ATTACAGTTGCAGTGGTTGAC	0.567																																																	0													106	92	97					17																	27031741		2203	4300	6503	SO:0001628	intergenic_variant	0			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			17.37:g.27031741C>T			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_PLipase_A2,superfamily_PLipase_A2_dom	p.C73Y	ENST00000314616.6	37	c.218	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002019	0.74932	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	T;T	0.59224	0.85;0.28	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.75049	0.3797	M	0.76574	2.34	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78277	-0.2266	10	0.87932	D	0	-17.4279	14.1313	0.65255	0.0:1.0:0.0:0.0	.	73;71	G5E9R8;Q8NCQ7-2	.;.	Y	71;73;99;73	ENSP00000301039:C71Y;ENSP00000411400:C73Y	ENSP00000301039:C71Y	C	-	2	0	PROCA1	24055868	1.000000	0.71417	0.995000	0.50966	0.832000	0.47134	5.355000	0.66046	2.379000	0.81126	0.655000	0.94253	TGC	PROCA1	-	pfam_PLipase_A2,superfamily_PLipase_A2_dom	ENSG00000167525		0.567	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	33	0	C	NM_003170		27031741	-1	tier1	-	no_errors	ENST00000439862	ensembl	human	known	74_37	missense	34.41	326	171	SNP	1.000	T	T	27031741	C	T	27031741	1	4	157	0	1	0	0	0	0	0	0	0	12588	710	25	3		3	PROCA1	17	27031741	IGR	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	812	27031741	54163469	172	40030			1	44		9	8	1232	N	C	6.055098e-19
PROCA1	6830	genome.wustl.edu	37	chr17	27031844	27031844	+	IGR	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtctccagcagcacttgtCaggctccttgcagtcacctg	6	11	10	14	0	3	0	2	0	1	0	5	0	4	0	3	1	3	4	3	1	0	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:27031844C>G	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.D39H|PROCA1_ENST00000301039.2_Missense_Mutation_p.D37H|PROCA1_ENST00000581289.1_Intron	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						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)					CAGCACTTGTCAGGCTCCTTG	0.567																																																	0													100	82	88					17																	27031844		2203	4300	6503	SO:0001628	intergenic_variant	0			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			17.37:g.27031844C>G			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_PLipase_A2,superfamily_PLipase_A2_dom	p.D39H	ENST00000314616.6	37	c.115	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808728	0.70797	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	T;T	0.55234	0.53;0.53	5.38	4.42	0.53409	.	0.213275	0.46145	D	0.000310	T	0.67144	0.2862	M	0.69823	2.125	0.46981	D	0.999279	D;D	0.76494	0.997;0.999	D;D	0.66351	0.912;0.943	T	0.69928	-0.5012	10	0.87932	D	0	.	9.9239	0.41481	0.0:0.9058:0.0:0.0942	.	39;37	G5E9R8;Q8NCQ7-2	.;.	H	37;39;65;39	ENSP00000301039:D37H;ENSP00000411400:D39H	ENSP00000301039:D37H	D	-	1	0	PROCA1	24055971	0.988000	0.35896	0.749000	0.31150	0.893000	0.52053	2.832000	0.48152	1.268000	0.44264	0.561000	0.74099	GAC	PROCA1	-	pfam_PLipase_A2,superfamily_PLipase_A2_dom	ENSG00000167525		0.567	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	47	0	C	NM_003170		27031844	-1	tier1	-	no_errors	ENST00000439862	ensembl	human	known	74_37	missense	17.49	349	74	SNP	0.989	G	G	27031844	C	G	27031844	1	3	157	0	1	0	0	0	0	0	0	0	12588	826	29	5		5	PROCA1	17	27031844	IGR	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	103	27031844	54163366	173	40031			1	44		9	8	1232	N	C	6.055098e-19
EIF1	10209	genome.wustl.edu	37	chr17	39845305	39845305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcgtatgtccgctatccaGaacctccactctttcggtaa	9	13	6	13	3	1	1	0	0	1	1	6	1	4	1	4	1	1	3	4	1	5	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:39845305G>C	ENST00000469257.1	+	1	161	c.15G>C	c.(13-15)caG>caC	p.Q5H	JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_3'UTR|EIF1_ENST00000591776.1_Missense_Mutation_p.Q5H			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	5					dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCGCTATCCAGAACCTCCACT	0.667																																					Pancreas(176;1692 2837 16734 17588)												0													44	43	43					17																	39845305		2203	4298	6501	SO:0001583	missense	0			AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.15G>C	17.37:g.39845305G>C	ENSP00000419449:p.Gln5His		Q9UNQ9	Missense_Mutation	SNP	pfam_TIF_SUI1,superfamily_TIF_SUI1,pirsf_SUI1_euk,pfscan_TIF_SUI1,tigrfam_SUI1_euk	p.Q5H	ENST00000469257.1	37	c.15	CCDS11403.1	17	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606150	0.66445	.	.	ENSG00000173812	ENST00000469257	T	0.30714	1.52	5.53	3.5	0.40072	Translation initiation factor SUI1 (1);	0.058090	0.64402	D	0.000001	T	0.33789	0.0875	M	0.75085	2.285	0.47621	D	0.999472	B	0.06786	0.001	B	0.11329	0.006	T	0.19877	-1.0292	10	0.62326	D	0.03	-3.8261	10.4599	0.44572	0.0738:0.1339:0.7922:0.0	.	5	P41567	EIF1_HUMAN	H	5	ENSP00000419449:Q5H	ENSP00000419449:Q5H	Q	+	3	2	EIF1	37098831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.377000	0.79668	0.848000	0.35191	0.650000	0.86243	CAG	EIF1	-	superfamily_TIF_SUI1,pirsf_SUI1_euk,tigrfam_SUI1_euk	ENSG00000173812		0.667	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1	HGNC	protein_coding	OTTHUMT00000257390.1	-	0	82	0	G	NM_005801		39845305	1	tier1	-	no_errors	ENST00000469257	ensembl	human	known	74_37	missense	68.59	177	393	SNP	1.000	C	C	39845305	G	C	39845305	3	2	157	1	0	0	0	0	1	0	0	0	5004	933	33	5	17	5	EIF1	17	39845305	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	12813461	39845305	41349905	174	40032											
FKBP10	60681	genome.wustl.edu	37	chr17	39969528	39969528	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggcaagaagtttgattCaaggtaaccccggttgggcg	11	9	14	7	2	1	3	1	1	0	2	1	3	1	3	2	4	1	4	2	4	4	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:39969528C>A	ENST00000321562.4	+	1	346	c.242C>A	c.(241-243)tCa>tAa	p.S81*	LEPREL4_ENST00000393928.1_5'Flank|LEPREL4_ENST00000355468.3_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	81	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AAGTTTGATTCAAGGTAACCC	0.557																																																	0													100	110	107					17																	39969528		2203	4300	6503	SO:0001587	stop_gained	0			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.242C>A	17.37:g.39969528C>A	ENSP00000317232:p.Ser81*		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Nonsense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.S81*	ENST00000321562.4	37	c.242	CCDS11409.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.443296	0.97572	.	.	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	.	.	.	5.54	5.54	0.83059	.	0.889944	0.09234	N	0.830179	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5484	19.0918	0.93229	0.0:1.0:0.0:0.0	.	.	.	.	X	81;21;81;81	.	ENSP00000269598:S81X	S	+	2	0	FKBP10	37223054	1.000000	0.71417	0.996000	0.52242	0.677000	0.39632	7.640000	0.83355	2.603000	0.88011	0.655000	0.94253	TCA	FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000141756		0.557	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	-	0	37	0	C	NM_021939		39969528	1	tier1	-	no_errors	ENST00000321562	ensembl	human	known	74_37	nonsense	17.92	435	95	SNP	1.000	A	A	39969528	C	A	39969528	4	1	157	1	0	0	0	0	0	1	0	0	5924	838	29	3	244	3	FKBP10	17	39969528	Nonsense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	124223	39969528	41225682	175	40033											
FKBP10	60681	genome.wustl.edu	37	chr17	39975621	39975621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgctaccactacaatggctCcttgatggacggcaccctct	8	9	9	15	2	1	1	0	1	1	0	2	2	2	2	3	3	2	3	3	3	3	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:39975621C>A	ENST00000321562.4	+	5	991	c.887C>A	c.(886-888)tCc>tAc	p.S296Y	FKBP10_ENST00000544340.1_Missense_Mutation_p.S8Y	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	296	PPIase FKBP-type 3. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TACAATGGCTCCTTGATGGAC	0.647																																																	0													63	67	66					17																	39975621		2203	4300	6503	SO:0001583	missense	0			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.887C>A	17.37:g.39975621C>A	ENSP00000317232:p.Ser296Tyr		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.S296Y	ENST00000321562.4	37	c.887	CCDS11409.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.05|15.05	2.718240|2.718240	0.48622|0.48622	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000455106|ENST00000321562;ENST00000414352;ENST00000544340	.|D;D	.|0.86164	.|-2.08;-2.08	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	.|0.159741	.|0.41712	.|D	.|0.000840	D|D	0.86024|0.86024	0.5834|0.5834	N|N	0.17901|0.17901	0.54|0.54	0.24291|0.24291	N|N	0.995166|0.995166	.|D	.|0.63880	.|0.993	.|D	.|0.65323	.|0.934	T|T	0.73911|0.73911	-0.3833|-0.3833	5|10	.|0.02654	.|T	.|1	-21.517|-21.517	18.5447|18.5447	0.91042|0.91042	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|296	.|Q96AY3	.|FKB10_HUMAN	T|Y	39|296;296;8	.|ENSP00000317232:S296Y;ENSP00000442009:S8Y	.|ENSP00000317232:S296Y	P|S	+|+	1|2	0|0	FKBP10|FKBP10	37229147|37229147	0.997000|0.997000	0.39634|0.39634	0.962000|0.962000	0.40283|0.40283	0.536000|0.536000	0.34869|0.34869	3.649000|3.649000	0.54417|0.54417	2.627000|2.627000	0.88993|0.88993	0.561000|0.561000	0.74099|0.74099	CCT|TCC	FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000141756		0.647	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	-	0	35	0	C	NM_021939		39975621	1	tier1	-	no_errors	ENST00000321562	ensembl	human	known	74_37	missense	16.15	456	88	SNP	0.995	A	A	39975621	C	A	39975621	3	1	157	1	0	0	0	0	1	0	0	0	5924	855	30	3	905	3	FKBP10	17	39975621	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	6093	39975621	41219589	176	40034											
FKBP10	60681	genome.wustl.edu	37	chr17	39976532	39976533	+	Missense_Mutation	DNP	CC	CC	TA																															tggcctcaggagacaagatcCctggctctgccgtgctaatc																										TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:39976532_39976533CC>TA	ENST00000321562.4	+	7	1179_1180	c.1075_1076CC>TA	c.(1075-1077)CCt>TAt	p.P359Y	FKBP10_ENST00000544340.1_Missense_Mutation_p.P132Y	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	359	PPIase FKBP-type 3. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGACAAGATCCCTGGCTCTGCC	0.564																																																	0																																										SO:0001583	missense	0			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	Exception_encountered	17.37:g.39976532_39976533delinsTA	ENSP00000317232:p.Pro359Tyr		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.P359S|p.P359H	ENST00000321562.4	37	c.1075|c.1076	CCDS11409.1	17																																																																																			FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000141756		0.564	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	-	0	18|19	0	C	NM_021939		39976532|39976533	1	tier1	-	no_errors	ENST00000321562	ensembl	human	known	74_37	missense	19.27|19.08	264|263	63|62	SNP	1.000	T|A	TA	39976533	CC	TA	39976532	3	4	157	1	0	0	0	0	1	0	0	0	5924	623	22	3	1101	3	FKBP10	17	39976532	Missense_Mutation	DNP	CC	TCGA-V5-A7RE-01A-11D-A351-09	911	39976532	41218678	177	40035											
NT5C3L	115024	genome.wustl.edu	37	chr17	39987091	39987091	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctaaccacctgggctatCtgaaacttctgaatcttctg	9	14	6	12	0	5	2	0	2	5	0	6	2	5	2	2	1	2	1	2	1	4	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:39987091C>G	ENST00000435506.2	-	6	435	c.366G>C	c.(364-366)caG>caC	p.Q122H	NT5C3B_ENST00000521789.1_Missense_Mutation_p.Q89H|NT5C3B_ENST00000269534.8_Missense_Mutation_p.Q114H			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	122					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										CCTGGGCTATCTGAAACTTCT	0.398																																																	0													166	163	164					17																	39987091		2203	4300	6503	SO:0001583	missense	0				CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"5'-nucleotidase, cytosolic III-like"	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.366G>C	17.37:g.39987091C>G	ENSP00000389948:p.Gln122His		A8MWB9|C9JKC4|Q7L3B7	Missense_Mutation	SNP	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu	p.Q114H	ENST00000435506.2	37	c.342	CCDS11410.2	17	.	.	.	.	.	.	.	.	.	.	C	5.845	0.340130	0.11069	.	.	ENSG00000141698	ENST00000269534;ENST00000521789;ENST00000393911;ENST00000435506	T;T;T	0.81415	-1.49;-1.49;-1.49	5.08	3.06	0.35304	HAD-like domain (1);	0.514986	0.20346	N	0.094159	T	0.69142	0.3078	L	0.34521	1.04	0.22226	N	0.99928	B;B;B	0.24963	0.036;0.115;0.036	B;B;B	0.29716	0.03;0.106;0.03	T	0.58962	-0.7543	10	0.44086	T	0.13	24.7789	5.9516	0.19250	0.1241:0.6233:0.1755:0.077	.	122;89;114	C9JKC4;E5RH64;Q969T7	.;.;5NT3L_HUMAN	H	114;89;156;122	ENSP00000269534:Q114H;ENSP00000429878:Q89H;ENSP00000389948:Q122H	ENSP00000269534:Q114H	Q	-	3	2	NT5C3L	37240617	1.000000	0.71417	0.328000	0.25416	0.051000	0.14879	1.664000	0.37439	0.637000	0.30526	0.561000	0.74099	CAG	NT5C3B	-	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu	ENSG00000141698		0.398	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NT5C3B	HGNC	protein_coding	OTTHUMT00000257430.2	-	0	55	0	C	NM_052935		39987091	-1	tier1	-	no_errors	ENST00000269534	ensembl	human	known	74_37	missense	14.37	697	117	SNP	0.471	G	G	39987091	C	G	39987091	3	3	157	1	0	0	0	0	1	0	0	0	10728	912	32	5	552	5	NT5C3L	17	39987091	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	10559	39987091	41208119	178	40036											
KAT2A	2648	genome.wustl.edu	37	chr17	40269136	40269136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcggaagcagatgccacCgatgacccgcccatccttga	10	6	10	15	3	0	3	0	2	0	1	1	5	1	4	5	1	3	1	5	1	1	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:40269136C>T	ENST00000225916.5	-	11	1734	c.1681G>A	c.(1681-1683)Ggt>Agt	p.G561S		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	561	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGATGCCACCGATGACCCGC	0.597											OREG0024419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													58	54	55					17																	40269136		2203	4300	6503	SO:0001583	missense	0			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.1681G>A	17.37:g.40269136C>T	ENSP00000225916:p.Gly561Ser	892	Q8N1A2|Q9UCW1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain	p.G561S	ENST00000225916.5	37	c.1681	CCDS11417.1	17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569885	0.86542	.	.	ENSG00000108773	ENST00000225916	T	0.21734	1.99	4.22	4.22	0.49857	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.109701	0.64402	D	0.000009	T	0.50871	0.1641	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.65233	0.933	T	0.63256	-0.6678	10	0.87932	D	0	-9.2085	17.4774	0.87662	0.0:1.0:0.0:0.0	.	561	Q92830	KAT2A_HUMAN	S	561	ENSP00000225916:G561S	ENSP00000225916:G561S	G	-	1	0	KAT2A	37522662	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	7.776000	0.85560	2.296000	0.77279	0.462000	0.41574	GGT	KAT2A	-	pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000108773		0.597	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1	-	0	45	0	C	NM_021078		40269136	-1	tier1	-	no_errors	ENST00000225916	ensembl	human	known	74_37	missense	47.62	44	40	SNP	1.000	T	T	40269136	C	T	40269136	3	4	157	1	0	0	0	0	1	0	0	0	8008	652	23	1	864	1	KAT2A	17	40269136	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	282045	40269136	40926074	179	40037											
HSPB9	94086	genome.wustl.edu	37	chr17	40275105	40275105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggccaatggctgatggtGaccggacagcagcaactgga	11	6	15	9	1	0	2	0	2	0	0	0	5	0	4	2	5	3	3	2	5	2	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:40275105G>A	ENST00000355067.3	+	1	350	c.237G>A	c.(235-237)gtG>gtA	p.V79V	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	79					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)		GGCTGATGGTGACCGGACAGC	0.582																																																	0													118	104	109					17																	40275105		2203	4300	6503	SO:0001819	synonymous_variant	0			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.237G>A	17.37:g.40275105G>A			B3KSG6|Q52LB4	Silent	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	p.V79	ENST00000355067.3	37	c.237	CCDS11418.1	17																																																																																			HSPB9	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	ENSG00000197723		0.582	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB9	HGNC	protein_coding	OTTHUMT00000257438.1	-	0	44	0	G	NM_033194		40275105	1	tier1	-	no_errors	ENST00000355067	ensembl	human	known	74_37	silent	80.55	71	294	SNP	1.000	A	A	40275105	G	A	40275105	2	1	157	1	0	0	0	0	0	0	0	1	7451	1277	45	3		3	HSPB9	17	40275105	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	5969	40275105	40920105	180	40038											
BZRAP1	9256	genome.wustl.edu	37	chr17	56388425	56388426	+	Missense_Mutation	DNP	GG	GG	CC																															ggcaggctggccggagccagGgcgggagtgataggagccgg																								rs374031972		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:56388425_56388426GG>CC	ENST00000343736.4	-	19	3393_3394	c.3230_3231CC>GG	c.(3229-3231)gCC>gGG	p.A1077G	BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1017G|BZRAP1_ENST00000355701.3_Missense_Mutation_p.A1077G			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1077	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Pro-rich.					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)					CCGGAGCCAGGGCGGGAGTGAT	0.708																																																	0																																										SO:0001583	missense	0			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.3230_3231delinsCC	17.37:g.56388425_56388426delinsCC	ENSP00000345824:p.Ala1077Gly		O75111|Q8N5W3	Silent|Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.A1077|p.A1077G	ENST00000343736.4	37	c.3231|c.3230	CCDS11605.1	17																																																																																			BZRAP1	-	superfamily_Fibronectin_type3	ENSG00000005379		0.708	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1		0	36|37	0	G	NM_004758		56388425|56388426	-1			no_errors	ENST00000355701	ensembl	human	known	74_37	silent|missense	26.76|26.39	52|53	19	SNP	1.000	C	CC	56388426	GG	CC	56388425	3	2	157	1	0	0	0	0	1	0	0	0	1581	1219	43	5	2394	5	BZRAP1	17	56388425	Missense_Mutation	DNP	GG	TCGA-V5-A7RE-01A-11D-A351-09	16113320	56388425	24806785	181	40039											
ABCA8	10351	genome.wustl.edu	37	chr17	66914209	66914209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgccaggatgtcggcctcatCcatgaactgggtactgaaga	10	8	12	11	2	1	3	1	2	0	1	3	4	2	4	3	3	2	1	3	3	3	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:66914209C>G	ENST00000269080.2	-	14	2043	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	ABCA8_ENST00000586539.1_Missense_Mutation_p.D676H|ABCA8_ENST00000430352.2_Missense_Mutation_p.D676H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	636	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)					TCGGCCTCATCCATGAACTGG	0.448																																																	0													171	138	149					17																	66914209		2203	4300	6503	SO:0001583	missense	0			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.1906G>C	17.37:g.66914209C>G	ENSP00000269080:p.Asp636His		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D676H	ENST00000269080.2	37	c.2026	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208285	0.79240	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.42513	0.97;0.97	4.26	4.26	0.50523	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.129906	0.33980	N	0.004370	T	0.60779	0.2295	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.96;0.963;0.978;0.994;0.967	T	0.65389	-0.6180	10	0.87932	D	0	.	16.1975	0.82042	0.0:1.0:0.0:0.0	.	615;676;676;676;636	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	H	636;676;615	ENSP00000269080:D636H;ENSP00000402814:D676H	ENSP00000269080:D636H	D	-	1	0	ABCA8	64425804	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.251000	0.78297	2.369000	0.80426	0.643000	0.83706	GAT	ABCA8	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000141338		0.448	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	-	0	61	0	C	NM_007168		66914209	-1	tier1	-	no_errors	ENST00000430352	ensembl	human	known	74_37	missense	41.56	45	32	SNP	1.000	G	G	66914209	C	G	66914209	3	3	157	1	0	0	0	0	1	0	0	0	38	855	30	5	2939	5	ABCA8	17	66914209	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	10525784	66914209	14281001	182	40040											
GPRC5C	55890	genome.wustl.edu	37	chr17	72436045	72436045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgtactacaacctgtgtGaccgctctggggcgtggggc	5	9	14	13	2	1	1	0	1	1	0	1	1	1	1	3	4	3	2	3	4	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:72436045G>A	ENST00000481232.1	+	2	776	c.265G>A	c.(265-267)Gac>Aac	p.D89N	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.D56N|GPRC5C_ENST00000392627.1_Missense_Mutation_p.D89N			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	44					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CAACCTGTGTGACCGCTCTGG	0.667																																																	0													64	60	61					17																	72436045		2203	4299	6502	SO:0001583	missense	0			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.265G>A	17.37:g.72436045G>A	ENSP00000462147:p.Asp89Asn		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.D89N	ENST00000481232.1	37	c.265		17	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009647	0.54361	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	T	0.31247	1.5	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	0.995;0.995;0.997;1.0	P;P;D;D	0.91635	0.788;0.788;0.935;0.999	T	0.60495	-0.7252	10	0.66056	D	0.02	-3.2719	18.5	0.90877	0.0:0.0:1.0:0.0	.	44;44;56;44	A8MXZ4;Q9NQ84;Q9NQ84-2;Q9BSP0	.;GPC5C_HUMAN;.;.	N	44;89;56;44	ENSP00000376405:D56N	ENSP00000340595:D89N	D	+	1	0	GPRC5C	69947640	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.674000	0.61612	2.616000	0.88540	0.561000	0.74099	GAC	GPRC5C	-	NULL	ENSG00000170412		0.667	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	GPRC5C	HGNC	protein_coding	OTTHUMT00000145095.2	-	0	17	0	G			72436045	1	tier1	-	no_errors	ENST00000392627	ensembl	human	known	74_37	missense	17.40	280	59	SNP	1.000	A	A	72436045	G	A	72436045	3	1	157	1	0	0	0	0	1	0	0	0	6753	1290	45	3	279	3	GPRC5C	17	72436045	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	5521836	72436045	8759165	183	40041											
GPRC5C	55890	genome.wustl.edu	37	chr17	72436912	72436913	+	Frame_Shift_Ins	INS	-	-	A																															catcctgaaagagcagaaggINSgtcagagcatgttcgtggag																										TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:72436912_72436913insA	ENST00000392627.1	+	2	2258_2259	c.1132_1133insA	c.(1132-1134)ggtfs	p.G378fs	GPRC5C_ENST00000342648.5_Frame_Shift_Ins_p.G18fs|GPRC5C_ENST00000392629.2_Frame_Shift_Ins_p.G345fs|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	333					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGAGCAGAAGGGTCAGAGCATG	0.594																																																	0																																										SO:0001589	frameshift_variant	0			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	Exception_encountered	17.37:g.72436912_72436913insA	ENSP00000376403:p.Gly378fs		B5BUN4|Q2NL85|Q9NZG5	Frame_Shift_Ins	INS	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.G378fs	ENST00000392627.1	37	c.1132_1133	CCDS11699.1	17																																																																																			GPRC5C	-	NULL	ENSG00000170412		0.594	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5C	HGNC	protein_coding	OTTHUMT00000145094.2		0	13	0	0			72436913	1			no_errors	ENST00000392627	ensembl	human	known	74_37	frame_shift_ins	7.17	285	22	INS	0.998:0.997	A	A	72436913	-	A	72436912	7	5	157	1	0	1	1	0	0	0	0	0	6753	1232	43	0	1146	0	GPRC5C	17	72436912	Frame_Shift_Ins	INS	-	TCGA-V5-A7RE-01A-11D-A351-09	867	72436912	8758298	184	40042											
DNAH17	8632	genome.wustl.edu	37	chr17	76464751	76464751	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	acttccaacatgtttcccgaGtgtcattcatgccaagggac	10	11	8	12	1	2	0	2	0	0	0	4	2	4	1	3	1	2	1	3	1	2	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:76464751G>T	ENST00000585328.1	-	55	8835	c.8711C>A	c.(8710-8712)aCt>aAt	p.T2904N	DNAH17_ENST00000389840.5_Missense_Mutation_p.T2895N|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2895	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGTTTCCCGAGTGTCATTCAT	0.567																																																	0													65	66	66					17																	76464751		1980	4171	6151	SO:0001583	missense	0			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.8711C>A	17.37:g.76464751G>T	ENSP00000465516:p.Thr2904Asn		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.T2895N	ENST00000585328.1	37	c.8684		17	.	.	.	.	.	.	.	.	.	.	G	9.346	1.064322	0.20067	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.45668	0.89	4.9	3.91	0.45181	.	.	.	.	.	T	0.57080	0.2029	M	0.72894	2.215	0.38623	D	0.951185	.	.	.	.	.	.	T	0.62402	-0.6862	7	0.44086	T	0.13	.	15.1245	0.72472	0.0:0.1422:0.8578:0.0	.	.	.	.	N	2904;2895	ENSP00000374490:T2895N	ENSP00000300671:T2904N	T	-	2	0	DNAH17	73976346	1.000000	0.71417	0.662000	0.29724	0.032000	0.12392	7.677000	0.84024	1.032000	0.39892	0.650000	0.86243	ACT	DNAH17	-	superfamily_P-loop_NTPase	ENSG00000187775		0.567	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	-	0	34	0	G	NM_173628		76464751	-1	tier1	-	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.998	T	T	76464751	G	T	76464751	3	4	157	1	0	0	0	0	1	0	0	0	4615	1029	36	3	4770	3	DNAH17	17	76464751	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	4027839	76464751	4730459	185	40043											
CSNK1D	1453	genome.wustl.edu	37	chr17	80213421	80213421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgacgttgtagtccccctCtgccccgcaccatctgatgg	6	10	9	16	2	2	2	0	2	2	0	3	2	3	2	5	1	1	3	5	1	1	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr17:80213421C>T	ENST00000314028.6	-	3	569	c.220G>A	c.(220-222)Gag>Aag	p.E74K	CSNK1D_ENST00000578904.1_5'UTR|AC132872.2_ENST00000598222.1_5'Flank|CSNK1D_ENST00000392334.2_Missense_Mutation_p.E74K|CSNK1D_ENST00000398519.5_Missense_Mutation_p.E74K	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TAGTCCCCCTCTGCCCCGCAC	0.567																																																	0													135	117	123					17																	80213421		2203	4300	6503	SO:0001583	missense	0				CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.220G>A	17.37:g.80213421C>T	ENSP00000324464:p.Glu74Lys		A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E74K	ENST00000314028.6	37	c.220	CCDS11805.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.570863	0.96540	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000403276	T;T;T	0.21361	2.01;2.01;2.01	5.42	5.42	0.78866	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	0.52964	0.1767	M	0.85099	2.735	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75484	0.957;0.966;0.986	T	0.59747	-0.7396	10	0.87932	D	0	.	18.2326	0.89938	0.0:1.0:0.0:0.0	.	74;74;17	P48730;P48730-2;B4E0G1	KC1D_HUMAN;.;.	K	74;74;17;74	ENSP00000324464:E74K;ENSP00000376146:E74K;ENSP00000385769:E74K	ENSP00000324464:E74K	E	-	1	0	CSNK1D	77806710	1.000000	0.71417	0.940000	0.37924	0.927000	0.56198	7.665000	0.83852	2.553000	0.86117	0.651000	0.88453	GAG	CSNK1D	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141551		0.567	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSNK1D	HGNC	protein_coding	OTTHUMT00000442632.1	-	0	59	0	C	NM_139062		80213421	-1	tier1	-	no_errors	ENST00000314028	ensembl	human	known	74_37	missense	30.43	32	14	SNP	1.000	T	T	80213421	C	T	80213421	3	4	157	1	0	0	0	0	1	0	0	0	3961	922	32	3	1092	3	CSNK1D	17	80213421	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	3748670	80213421	981789	186	40044											
TGIF1	7050	genome.wustl.edu	37	chr18	3452225	3452225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcctgcgccccccctcCtccaccggcgcgctgcccac	2	6	8	25	4	0	0	0	0	0	0	4	0	4	0	9	1	2	1	9	1	0	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr18:3452225C>T	ENST00000330513.5	+	1	551	c.248C>T	c.(247-249)cCt>cTt	p.P83L	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	83					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)				GCCCCCCCTCCTCCACCGGCG	0.761																																																	0													12	13	13					18																	3452225		2193	4262	6455	SO:0001583	missense	0			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.248C>T	18.37:g.3452225C>T	ENSP00000327959:p.Pro83Leu		A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	pfam_Homeobox_KN_domain,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P83L	ENST00000330513.5	37	c.248	CCDS11834.1	18	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996039	0.35226	.	.	ENSG00000177426	ENST00000330513	T	0.52526	0.66	4.07	-2.89	0.05665	.	6.638940	0.00166	U	0.000014	T	0.30727	0.0774	N	0.14661	0.345	0.23260	N	0.998025	B	0.06786	0.001	B	0.01281	0.0	T	0.26503	-1.0101	10	0.66056	D	0.02	.	6.0329	0.19690	0.1302:0.2382:0.5436:0.088	.	83	Q15583	TGIF1_HUMAN	L	83	ENSP00000327959:P83L	ENSP00000327959:P83L	P	+	2	0	TGIF1	3442225	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.212000	0.09319	-1.041000	0.03266	-0.264000	0.10439	CCT	TGIF1	-	NULL	ENSG00000177426		0.761	TGIF1-003	KNOWN	basic|CCDS	protein_coding	TGIF1	HGNC	protein_coding	OTTHUMT00000254368.4		0	30	0	C	NM_170695		3452225	1			no_errors	ENST00000330513	ensembl	human	known	74_37	missense	6.38	88	6	SNP	0.001	T	T	3452225	C	T	3452225	3	4	157	1	0	0	0	0	1	0	0	0	15872	681	24	3	332	3	TGIF1	18	3452225	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09		3452225	74625023	187	40045											
ASXL3	80816	genome.wustl.edu	37	chr18	31226215	31226215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcaaaataatacagaaagagGagtcgtcatgcccagcagat	17	7	9	8	1	2	3	2	0	0	3	3	4	2	4	1	1	3	1	1	1	5	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr18:31226215G>C	ENST00000269197.5	+	4	253	c.253G>C	c.(253-255)Gag>Cag	p.E85Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	85					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						ACAGAAAGAGGAGTCGTCATG	0.388																																																	0													105	102	103					18																	31226215		1953	4158	6111	SO:0001583	missense	0			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.253G>C	18.37:g.31226215G>C	ENSP00000269197:p.Glu85Gln		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E85Q	ENST00000269197.5	37	c.253	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651449	0.88056	.	.	ENSG00000141431	ENST00000269197	T	0.15487	2.42	5.47	5.47	0.80525	.	.	.	.	.	T	0.26195	0.0639	L	0.36672	1.1	0.39339	D	0.965545	D	0.58268	0.982	P	0.52793	0.709	T	0.00553	-1.1674	9	0.34782	T	0.22	.	19.6817	0.95967	0.0:0.0:1.0:0.0	.	85	Q9C0F0	ASXL3_HUMAN	Q	85	ENSP00000269197:E85Q	ENSP00000269197:E85Q	E	+	1	0	ASXL3	29480213	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.041000	0.76558	2.730000	0.93505	0.555000	0.69702	GAG	ASXL3	-	NULL	ENSG00000141431		0.388	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	31	0	G			31226215	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	48.84	22	21	SNP	1.000	C	C	31226215	G	C	31226215	3	2	157	1	0	0	0	0	1	0	0	0	1069	1175	41	5	267	5	ASXL3	18	31226215	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	27773990	31226215	46851033	188	40046											
SETBP1	26040	genome.wustl.edu	37	chr18	42456670	42456671	+	Intron	DEL	CA	CA	-																															cccgcaaaacccggttctctCactcttccttttcacagtga																								rs33928380|rs200957852|rs74895636|rs3085861	byFrequency	TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr18:42456670_42456671delCA	ENST00000282030.5	+	3	836				SETBP1_ENST00000426838.4_Frame_Shift_Del_p.T228fs	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1							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)		CCGGTTCTCTCACTCTTCCTTT	0.52									Schinzel-Giedion syndrome																																								0																																										SO:0001627	intron_variant	0	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.540+7422CA>-	18.37:g.42456670_42456671delCA			A6H8W5|Q6P6C3|Q9UEF3	Frame_Shift_Del	DEL	NULL	p.T228fs	ENST00000282030.5	37	c.681_682	CCDS11923.2	18																																																																																			SETBP1	-	NULL	ENSG00000152217		0.52	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4		0	273	0	CA	NM_001130110		42456671	1	tier1		no_errors	ENST00000426838	ensembl	human	known	74_37	frame_shift_del	7.42	262	21	DEL	0.000:0.000	-	-	42456671	CA	-	42456670	6	5	157	0	1	1	0	1	0	0	0	0	14174	813	29	0		0	SETBP1	18	42456670	Intron	DEL	CA	TCGA-V5-A7RE-01A-11D-A351-09	11230455	42456670	35620578	189	40047											
PHLPP1	23239	genome.wustl.edu	37	chr18	60639886	60639887	+	Frame_Shift_Ins	INS	-	-	A																															cattttggctgaagagctgcINSaaaaaacaaaaaacgaagaa																										TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr18:60639886_60639887insA	ENST00000262719.5	+	15	3934_3935	c.3700_3701insA	c.(3700-3702)caafs	p.Q1234fs	PHLPP1_ENST00000400316.4_Frame_Shift_Ins_p.Q722fs			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1234	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TGAAGAGCTGCAAAAAACAAAA	0.45																																																	0																																										SO:0001589	frameshift_variant	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3706dupA	18.37:g.60639892_60639892dupA	ENSP00000262719:p.Gln1234fs		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Frame_Shift_Ins	INS	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.T1236fs	ENST00000262719.5	37	c.3700_3701	CCDS45881.2	18																																																																																			PHLPP1	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000081913		0.45	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2		0	57	0	-	NM_194449		60639887	1	tier1		no_errors	ENST00000262719	ensembl	human	known	74_37	frame_shift_ins	41.67	14	10	INS	1.000:1.000	A	A	60639887	-	A	60639886	7	5	157	1	0	1	1	0	0	0	0	0	11893	711	25	0	3758	0	PHLPP1	18	60639886	Frame_Shift_Ins	INS	-	TCGA-V5-A7RE-01A-11D-A351-09	18183216	60639886	17437362	190	40048	140	2									
PHLPP1	23239	genome.wustl.edu	37	chr18	60639893	60639894	+	Missense_Mutation	DNP	CA	CA	AC																															ggctgaagagctgcaaaaaaCaaaaaacgaagaagaataca																								rs17355988|rs375407457		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr18:60639893_60639894CA>AC	ENST00000262719.5	+	15	3941_3942	c.3707_3708CA>AC	c.(3706-3708)aCA>aAC	p.T1236N	PHLPP1_ENST00000400316.4_Missense_Mutation_p.T724N			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1236	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CTGCAAAAAACAAAAAACGAAG	0.441																																																	0																																										SO:0001583	missense	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	Exception_encountered	18.37:g.60639893_60639894delinsAC	ENSP00000262719:p.Thr1236Asn		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation|Silent	SNP	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.T1236K|p.T1236	ENST00000262719.5	37	c.3707|c.3708	CCDS45881.2	18																																																																																			PHLPP1	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000081913		0.441	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2		0	58|57	0	C|A	NM_194449		60639893|60639894	1			no_errors	ENST00000262719	ensembl	human	known	74_37	missense|silent	16.67	20	4	SNP	1.000|0.974	A|C	AC	60639894	CA	AC	60639893	3	1	157	1	0	0	0	0	1	0	0	0	11893	478	17	3	3765	3	PHLPP1	18	60639893	Missense_Mutation	DNP	CA	TCGA-V5-A7RE-01A-11D-A351-09	7	60639893	17437355	191	40049	140	2									
MUC16	94025	genome.wustl.edu	37	chr19	9085345	9085345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctcagatgtaaggccaGaaacatctgatctagaagtt	14	11	8	8	0	3	4	1	1	3	3	4	4	3	4	1	1	2	2	1	1	5	4			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:9085345G>T	ENST00000397910.4	-	1	6673	c.6470C>A	c.(6469-6471)tCt>tAt	p.S2157Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2157	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						TGTAAGGCCAGAAACATCTGA	0.493																																																	0													61	60	61					19																	9085345		1920	4126	6046	SO:0001583	missense	0			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.6470C>A	19.37:g.9085345G>T	ENSP00000381008:p.Ser2157Tyr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S2157Y	ENST00000397910.4	37	c.6470	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.738	-0.777497	0.02929	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.495	0.495	0.16890	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	.	.	.	D	0.58970	0.984	D	0.63877	0.919	T	0.46091	-0.9216	7	0.87932	D	0	.	.	.	.	.	2157	B5ME49	.	Y	2157	ENSP00000381008:S2157Y	ENSP00000381008:S2157Y	S	-	2	0	MUC16	8946345	0.008000	0.16893	0.016000	0.15963	0.013000	0.08279	0.913000	0.28611	0.502000	0.28037	0.313000	0.20887	TCT	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	46	0	G	NM_024690		9085345	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	26.32	42	15	SNP	0.018	T	T	9085345	G	T	9085345	3	4	157	1	0	0	0	0	1	0	0	0	10011	942	33	3	37389	3	MUC16	19	9085345	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09		9085345	50043638	192	40050											
ZSWIM4	65249	genome.wustl.edu	37	chr19	13934270	13934270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catccttggccacctggagaCccgccagtgtgaactggctt	7	9	11	14	1	0	2	0	1	0	1	1	3	1	2	5	3	1	1	5	3	1	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:13934270C>T	ENST00000254323.2	+	10	2009	c.1820C>T	c.(1819-1821)aCc>aTc	p.T607I	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T441I	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	607							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)			CACCTGGAGACCCGCCAGTGT	0.592																																																	0													41	32	35					19																	13934270		2203	4298	6501	SO:0001583	missense	0			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.1820C>T	19.37:g.13934270C>T	ENSP00000254323:p.Thr607Ile			Missense_Mutation	SNP	pfscan_Znf_SWIM	p.T607I	ENST00000254323.2	37	c.1820	CCDS32924.1	19	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898649	0.72639	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.46063	0.88;0.88	4.48	3.45	0.39498	.	0.000000	0.52532	D	0.000073	T	0.47284	0.1437	L	0.59436	1.845	0.33935	D	0.642522	P;P	0.45957	0.557;0.869	B;P	0.51135	0.294;0.66	T	0.59984	-0.7351	10	0.38643	T	0.18	-39.9517	10.0212	0.42044	0.0:0.9004:0.0:0.0996	.	441;607	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	I	607;441	ENSP00000254323:T607I;ENSP00000405278:T441I	ENSP00000254323:T607I	T	+	2	0	ZSWIM4	13795270	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.435000	0.59941	1.101000	0.41535	0.591000	0.81541	ACC	ZSWIM4	-	NULL	ENSG00000132003		0.592	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	-	0	22	0	C	XM_031342		13934270	1	tier1	-	no_errors	ENST00000254323	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.999	T	T	13934270	C	T	13934270	3	4	157	1	0	0	0	0	1	0	0	0	18291	507	18	3	1858	3	ZSWIM4	19	13934270	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	4848925	13934270	45194713	193	40051											
ZNF333	84449	genome.wustl.edu	37	chr19	14829540	14829540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagccatcatccctcaggagCcacgtgagaactcacactgg	11	6	9	15	1	3	1	3	1	0	1	4	3	4	2	3	2	3	0	3	2	1	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:14829540C>G	ENST00000292530.6	+	12	1492	c.1401C>G	c.(1399-1401)agC>agG	p.S467R	ZNF333_ENST00000536363.1_Missense_Mutation_p.S358R|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CCCTCAGGAGCCACGTGAGAA	0.493																																					NSCLC(60;75 1281 16985 25154 29885)												0													63	66	65					19																	14829540		2203	4300	6503	SO:0001583	missense	0				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1401C>G	19.37:g.14829540C>G	ENSP00000292530:p.Ser467Arg		Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S467R	ENST00000292530.6	37	c.1401	CCDS12316.1	19	.	.	.	.	.	.	.	.	.	.	C	7.720	0.697073	0.15106	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.11821	2.74;2.74	3.44	-2.02	0.07388	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.01209	-0.955	0.09310	N	0.999999	D	0.60575	0.988	P	0.54759	0.76	T	0.22068	-1.0227	9	0.13470	T	0.59	.	4.6163	0.12428	0.0:0.2435:0.1813:0.5752	.	467	Q96JL9	ZN333_HUMAN	R	358;467	ENSP00000439749:S358R;ENSP00000292530:S467R	ENSP00000292530:S467R	S	+	3	2	ZNF333	14690540	0.000000	0.05858	0.118000	0.21660	0.957000	0.61999	-2.301000	0.01137	-0.074000	0.12820	0.655000	0.94253	AGC	ZNF333	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160961		0.493	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF333	HGNC	protein_coding	OTTHUMT00000466496.1		0	27	0	C	NM_032433		14829540	1			no_errors	ENST00000292530	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.002	G	G	14829540	C	G	14829540	3	3	157	1	0	0	0	0	1	0	0	0	17898	738	26	5	1443	5	ZNF333	19	14829540	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	895270	14829540	44299443	194	40052											
CYP4F11	57834	genome.wustl.edu	37	chr19	16045083	16045083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaacactggaggcggcGgcagttgtcatagaaggtgt	12	7	16	6	2	1	1	1	0	0	1	1	3	1	3	0	6	1	2	0	6	4	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:16045083G>A	ENST00000402119.4	-	1	562	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	CYP4F11_ENST00000248041.8_Missense_Mutation_p.R46C|CYP4F11_ENST00000326742.8_Missense_Mutation_p.R46C	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						TGGAGGCGGCGGCAGTTGTCA	0.627																																																	0													56	54	55					19																	16045083		2203	4300	6503	SO:0001583	missense	0			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.136C>T	19.37:g.16045083G>A	ENSP00000384588:p.Arg46Cys			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R46C	ENST00000402119.4	37	c.136	CCDS12337.1	19	.	.	.	.	.	.	.	.	.	.	g	7.386	0.629733	0.14257	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;D	0.97791	-4.54;-4.54;-4.54	2.18	-0.00717	0.14010	.	0.283347	0.26109	U	0.026284	D	0.92883	0.7736	L	0.35723	1.085	0.09310	N	0.999994	B;B	0.21071	0.051;0.008	B;B	0.20767	0.031;0.014	D	0.85446	0.1158	10	0.49607	T	0.09	.	2.171	0.03849	0.3121:0.0:0.4381:0.2497	.	46;46	F8W978;Q9HBI6	.;CP4FB_HUMAN	C	46	ENSP00000384588:R46C;ENSP00000248041:R46C;ENSP00000319859:R46C	ENSP00000248041:R46C	R	-	1	0	CYP4F11	15906083	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-1.898000	0.01602	0.060000	0.16281	0.306000	0.20318	CGC	CYP4F11	-	NULL	ENSG00000171903		0.627	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	HGNC	protein_coding	OTTHUMT00000460385.2	-	0	150	0	G	NM_021187		16045083	-1	tier1	-	no_errors	ENST00000248041	ensembl	human	known	74_37	missense	11.83	163	22	SNP	0.000	A	A	16045083	G	A	16045083	3	1	157	1	0	0	0	0	1	0	0	0	4195	1116	39	1	1486	1	CYP4F11	19	16045083	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	1215543	16045083	43083900	195	40053											
SLC5A5	6528	genome.wustl.edu	37	chr19	17994849	17994849	+	Frame_Shift_Del	DEL	C	C	-																															tgctaacgactccagcagggCccccaggtgagcagacttga																										TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:17994849delC	ENST00000222248.3	+	12	1867	c.1520delC	c.(1519-1521)gccfs	p.A507fs		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	507					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCCAGCAGGGCCCCCAGGTGA	0.627																																					Melanoma(65;1008 1708 7910 46650)												0													6	6	6					19																	17994849		2184	4259	6443	SO:0001589	frameshift_variant	0				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1520delC	19.37:g.17994849delC	ENSP00000222248:p.Ala507fs		O43702|Q2M335|Q9NYB6	Frame_Shift_Del	DEL	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.S509fs	ENST00000222248.3	37	c.1520	CCDS12368.1	19																																																																																			SLC5A5	-	NULL	ENSG00000105641		0.627	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1		0	8	0	C			17994849	1	tier1		no_errors	ENST00000222248	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	0.000	-	-	17994849	C	-	17994849	7	5	157	1	0	1	0	1	0	0	0	0	14713	739	26	0	1566	0	SLC5A5	19	17994849	Frame_Shift_Del	DEL	C	TCGA-V5-A7RE-01A-11D-A351-09	1949766	17994849	41134134	196	40054											
ZNF91	7644	genome.wustl.edu	37	chr19	23542543	23542543	+	Missense_Mutation	SNP	A	A	C	1	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	tgctttgccacattcttcacAtttgtagggtttctctctag	6	18	7	10	0	4	0	1	0	3	0	5	0	4	0	1	1	2	3	1	1	2	7			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:23542543A>C	ENST00000300619.7	-	4	3443	c.3238T>G	c.(3238-3240)Tgt>Ggt	p.C1080G	ZNF91_ENST00000397082.2_Missense_Mutation_p.C1048G|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1080					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)				CATTCTTCACATTTGTAGGGT	0.398																																																	0													66	73	71					19																	23542543		2171	4279	6450	SO:0001583	missense	0			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.3238T>G	19.37:g.23542543A>C	ENSP00000300619:p.Cys1080Gly		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C1080G	ENST00000300619.7	37	c.3238	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247242	0.39697	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	D;D	0.85258	-1.96;-1.96	1.49	1.49	0.22878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95066	0.8402	H	0.99368	4.535	0.09310	N	0.999997	D;D	0.89917	0.981;1.0	D;D	0.97110	0.989;1.0	D	0.85465	0.1169	9	0.87932	D	0	.	7.8484	0.29440	1.0:0.0:0.0:0.0	.	1048;1080	Q05481-2;Q05481	.;ZNF91_HUMAN	G	1080;1048	ENSP00000300619:C1080G;ENSP00000380272:C1048G	ENSP00000300619:C1080G	C	-	1	0	ZNF91	23334383	0.997000	0.39634	0.012000	0.15200	0.689000	0.40095	6.225000	0.72271	0.660000	0.30964	0.165000	0.16767	TGT	ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167232		0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	-	0	77	0	A	NM_003430		23542543	-1	tier1	-	no_errors	ENST00000300619	ensembl	human	known	74_37	missense	21.43	55	15	SNP	0.200	C	C	23542543	A	C	23542543	3	2	157	1	0	0	0	0	1	0	0	0	18248	217	8	4	341	4	ZNF91	19	23542543	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	5547694	23542543	35586440	197	40055											
LRFN1	57622	genome.wustl.edu	37	chr19	39798949	39798949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacgatgaagacgaggaccGaggcgacgatgacgcccccg	12	2	15	12	7	0	3	0	2	0	1	0	10	0	4	3	2	1	0	3	2	2	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:39798949G>A	ENST00000248668.4	-	2	1639	c.1640C>T	c.(1639-1641)tCg>tTg	p.S547L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	547						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GACGAGGACCGAGGCGACGAT	0.667																																																	0													26	31	29					19																	39798949		2179	4283	6462	SO:0001583	missense	0			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1640C>T	19.37:g.39798949G>A	ENSP00000248668:p.Ser547Leu		Q8TBS9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S547L	ENST00000248668.4	37	c.1640	CCDS46071.1	19	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931187	0.92389	.	.	ENSG00000128011	ENST00000248668	T	0.63744	-0.06	4.17	4.17	0.49024	.	0.000000	0.32608	N	0.005879	T	0.63319	0.2501	L	0.43923	1.385	0.80722	D	1	D	0.57571	0.98	P	0.51016	0.656	T	0.68565	-0.5375	10	0.72032	D	0.01	.	14.0383	0.64658	0.0:0.0:1.0:0.0	.	547	Q9P244	LRFN1_HUMAN	L	547	ENSP00000248668:S547L	ENSP00000248668:S547L	S	-	2	0	LRFN1	44490789	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.438000	0.97539	2.176000	0.68965	0.462000	0.41574	TCG	LRFN1	-	NULL	ENSG00000128011		0.667	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	-	0	33	0	G	NM_020862		39798949	-1	tier1	-	no_errors	ENST00000248668	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	A	A	39798949	G	A	39798949	3	1	157	1	0	0	0	0	1	0	0	0	8972	1059	37	1	679	1	LRFN1	19	39798949	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	16256406	39798949	19330034	198	40056											
DYRK1B	9149	genome.wustl.edu	37	chr19	40320627	40320627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttcttgatgatcttgatgGccacaagctcctgggtctga	7	14	11	9	0	3	4	0	4	3	0	4	4	4	4	2	2	1	2	2	2	1	3			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:40320627G>A	ENST00000593685.1	-	5	881	c.413C>T	c.(412-414)gCc>gTc	p.A138V	DYRK1B_ENST00000323039.5_Missense_Mutation_p.A138V|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A138V|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A138V|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A138V			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			GATCTTGATGGCCACAAGCTC	0.547																																																	0													111	96	101					19																	40320627		2203	4300	6503	SO:0001583	missense	0			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.413C>T	19.37:g.40320627G>A	ENSP00000469863:p.Ala138Val		O75258|O75788|O75789	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A138V	ENST00000593685.1	37	c.413	CCDS12543.1	19	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884056	0.91814	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.52526	0.66;0.66;0.66	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060827	0.64402	D	0.000004	T	0.75481	0.3855	M	0.93898	3.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.82849	-0.0254	10	0.87932	D	0	.	14.313	0.66429	0.0:0.0:1.0:0.0	.	138;138;138	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	V	138	ENSP00000312789:A138V;ENSP00000221803:A138V;ENSP00000403182:A138V	ENSP00000312789:A138V	A	-	2	0	DYRK1B	45012467	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.601000	0.98297	2.236000	0.73375	0.561000	0.74099	GCC	DYRK1B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105204		0.547	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYRK1B	HGNC	protein_coding	OTTHUMT00000462874.2	-	0	28	0	G	NM_004714		40320627	-1	tier1	-	no_errors	ENST00000323039	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	40320627	G	A	40320627	3	1	157	1	0	0	0	0	1	0	0	0	4869	1203	42	3	1504	3	DYRK1B	19	40320627	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	521678	40320627	18808356	199	40057											
KCNN4	3783	genome.wustl.edu	37	chr19	44276179	44276179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcacaggcagacgatCttgccccacatggtgcccgg	8	6	12	15	2	1	1	0	0	1	1	1	2	1	1	4	3	3	2	4	3	0	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:44276179C>A	ENST00000262888.3	-	4	1187	c.792G>T	c.(790-792)aaG>aaT	p.K264N		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	264					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)	GGCAGACGATCTTGCCCCACA	0.557																																																	0													153	116	129					19																	44276179		2203	4300	6503	SO:0001583	missense	0			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.792G>T	19.37:g.44276179C>A	ENSP00000262888:p.Lys264Asn		Q53XR4	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom	p.K264N	ENST00000262888.3	37	c.792	CCDS12630.1	19	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925316	0.73213	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	T	0.38077	1.16	5.28	3.15	0.36227	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	M	0.93328	3.405	0.45946	D	0.998778	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67925	-0.5544	10	0.87932	D	0	-25.8665	6.6171	0.22782	0.0:0.7266:0.0:0.2734	.	158;264	D1MQ10;O15554	.;KCNN4_HUMAN	N	264;132	ENSP00000262888:K264N	ENSP00000262888:K264N	K	-	3	2	KCNN4	48968019	0.998000	0.40836	1.000000	0.80357	0.945000	0.59286	1.295000	0.33377	1.382000	0.46385	0.561000	0.74099	AAG	KCNN4	-	pfam_2pore_dom_K_chnl_dom	ENSG00000104783		0.557	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNN4	HGNC	protein_coding	OTTHUMT00000463598.1	-	0	37	0	C	NM_002250		44276179	-1	tier1	-	no_errors	ENST00000262888	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	A	A	44276179	C	A	44276179	3	1	157	1	0	0	0	0	1	0	0	0	8108	912	32	3	511	3	KCNN4	19	44276179	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	3955552	44276179	14852804	200	40058											
ZNF226	7769	genome.wustl.edu	37	chr19	44681807	44681808	+	Frame_Shift_Ins	INS	-	-	A																															catcagagaatccacacaggINSaaaaaaaatctataaaatga																								rs201600907	byFrequency	TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:44681807_44681808insA	ENST00000590089.1	+	7	2759_2760	c.2392_2393insA	c.(2392-2394)gaafs	p.E798fs	ZNF226_ENST00000337433.5_Frame_Shift_Ins_p.E798fs|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Frame_Shift_Ins_p.E798fs			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	798					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K800fs*3(1)					Prostate(69;0.0352)|all_neural(266;0.202)				ATCCACACAGGAAAAAAAATCT	0.371													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	10	0.00199681	0.0061	0.0029	5008	,	,		18919	0		0	False		,,,				2504	0				Pancreas(115;581 1665 13228 19278 50070)												1	Deletion - Frameshift(1)	liver(1)							,	5,3545		0,5,1770					,	0.7	0			28	4,7830		0,4,3913	no	frameshift,frameshift	ZNF226	NM_001032373.1,NM_001032372.1	,	0,9,5683	A1A1,A1R,RR		0.0511,0.1408,0.0791	,	,		9,11375				SO:0001589	frameshift_variant	0			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.2400dupA	19.37:g.44681815_44681815dupA	ENSP00000465121:p.Glu798fs		Q8WWE6|Q96TE6|Q9NS44	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S801fs	ENST00000590089.1	37	c.2392_2393	CCDS46102.1	19																																																																																			ZNF226	-	NULL	ENSG00000167380		0.371	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF226	HGNC	protein_coding	OTTHUMT00000460712.1		0	41	0	-			44681808	1	tier1		no_errors	ENST00000337433	ensembl	human	known	74_37	frame_shift_ins	24.14	44	14	INS	0.385:0.382	A	A	44681808	-	A	44681807	7	5	157	1	0	1	1	0	0	0	0	0	17828	1175	41	0	2460	0	ZNF226	19	44681807	Frame_Shift_Ins	INS	-	TCGA-V5-A7RE-01A-11D-A351-09	405628	44681807	14447176	201	40059											
BCAM	4059	genome.wustl.edu	37	chr19	45322680	45322680	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gtgaccagcgccctgagccgCgatggcatctcctgtgaagc	7	7	13	14	3	1	3	0	3	1	0	2	4	1	3	4	1	3	1	4	1	1	0	rs372072867		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:45322680C>T	ENST00000270233.6	+	12	1573	c.1551C>T	c.(1549-1551)cgC>cgT	p.R517R	BCAM_ENST00000589651.1_Silent_p.R517R	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	517	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCCTGAGCCGCGATGGCATCT	0.652																																																	0													77	84	82					19																	45322680		2203	4300	6503	SO:0001819	synonymous_variant	0			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1551C>T	19.37:g.45322680C>T			A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R517	ENST00000270233.6	37	c.1551	CCDS12644.1	19																																																																																			BCAM	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000187244		0.652	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAM	HGNC	protein_coding	OTTHUMT00000453220.1	-	0	50	0	C	NM_005581		45322680	1	tier1	-	no_errors	ENST00000270233	ensembl	human	known	74_37	silent	11.54	46	6	SNP	0.047	T	T	45322680	C	T	45322680	2	4	157	1	0	0	0	0	0	0	0	1	1345	755	27	1		1	BCAM	19	45322680	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	640873	45322680	13806303	202	40060											
PRKD2	25865	genome.wustl.edu	37	chr19	47197354	47197354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cacaaggctgaagttctgggCggactccaccgtgaggattt	9	9	13	10	2	1	2	0	2	1	0	2	4	2	4	2	4	0	2	2	4	2	2	rs536434220		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:47197354C>T	ENST00000291281.4	-	10	1579	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	PRKD2_ENST00000595515.1_Missense_Mutation_p.A452T|PRKD2_ENST00000600194.1_Missense_Mutation_p.A295T|PRKD2_ENST00000433867.1_Missense_Mutation_p.A452T|PRKD2_ENST00000601806.1_Missense_Mutation_p.A295T			Q9BZL6	KPCD2_HUMAN	protein kinase D2	452	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AAGTTCTGGGCGGACTCCACC	0.587													C|||	1	0.000199681	0	0	5008	,	,		18139	0		0	False		,,,				2504	0.001																0													56	47	50					19																	47197354		2203	4300	6503	SO:0001583	missense	0			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.1354G>A	19.37:g.47197354C>T	ENSP00000291281:p.Ala452Thr		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.A452T	ENST00000291281.4	37	c.1354	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158750	0.57368	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.23754	1.89;1.89	4.73	3.67	0.42095	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.150484	0.42548	D	0.000691	T	0.29652	0.0740	M	0.66378	2.025	0.47949	D	0.999552	B;P	0.35959	0.056;0.53	B;B	0.38225	0.084;0.268	T	0.05903	-1.0857	10	0.30854	T	0.27	-18.6129	13.2803	0.60210	0.1602:0.8398:0.0:0.0	.	452;452	E7ER94;Q9BZL6	.;KPCD2_HUMAN	T	452	ENSP00000291281:A452T;ENSP00000393978:A452T	ENSP00000291281:A452T	A	-	1	0	PRKD2	51889194	0.987000	0.35691	0.922000	0.36590	0.927000	0.56198	2.694000	0.47035	1.096000	0.41439	0.555000	0.69702	GCC	PRKD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000105287		0.587	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1		0	38	0	C	NM_016457		47197354	-1			no_errors	ENST00000291281	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.998	T	T	47197354	C	T	47197354	3	4	157	1	0	0	0	0	1	0	0	0	12561	768	27	1	1318	1	PRKD2	19	47197354	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	1874674	47197354	11931629	203	40061											
SYNGR4	23546	genome.wustl.edu	37	chr19	48878931	48878931	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaccaatggcagcattcGccgcccaaagagttcctcct	10	7	8	16	2	0	1	0	0	0	1	3	1	2	1	6	1	2	3	6	1	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:48878931G>T	ENST00000344846.2	+	4	643	c.393G>T	c.(391-393)tcG>tcT	p.S131S	SYNGR4_ENST00000601610.1_Silent_p.S82S|SYNGR4_ENST00000595322.1_Intron	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	131	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)		p.S131S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GGCAGCATTCGCCGCCCAAAG	0.592																																																	1	Substitution - coding silent(1)	endometrium(1)											93	85	88					19																	48878931		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.393G>T	19.37:g.48878931G>T			Q3KP58	Silent	SNP	pfam_Marvel,pirsf_Synaptogyrin	p.S131	ENST00000344846.2	37	c.393	CCDS12717.1	19																																																																																			SYNGR4	-	pfam_Marvel,pirsf_Synaptogyrin	ENSG00000105467		0.592	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR4	HGNC	protein_coding	OTTHUMT00000465704.1		0	27	0	G			48878931	1			no_errors	ENST00000344846	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.000	T	T	48878931	G	T	48878931	2	4	157	1	0	0	0	0	0	0	0	1	15498	1074	38	2		2	SYNGR4	19	48878931	Silent	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	1681577	48878931	10250052	204	40062											
SYT3	84258	genome.wustl.edu	37	chr19	51128486	51128486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcatctctgcccagtgctcgCggccgtgcgggtcggcagcg	3	7	16	15	6	1	0	0	0	1	0	4	0	1	0	2	3	4	3	2	3	0	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr19:51128486C>T	ENST00000338916.4	-	7	2273	c.1640G>A	c.(1639-1641)cGc>cAc	p.R547H	SYT3_ENST00000593901.1_Missense_Mutation_p.R547H|SYT3_ENST00000544769.1_Missense_Mutation_p.R547H|SYT3_ENST00000600079.1_Missense_Mutation_p.R547H	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	547					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGTGCTCGCGGCCGTGCGG	0.682																																																	0													32	28	29					19																	51128486		2201	4296	6497	SO:0001583	missense	0			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1640G>A	19.37:g.51128486C>T	ENSP00000340914:p.Arg547His		Q8N5Z1|Q8N640	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.R547H	ENST00000338916.4	37	c.1640	CCDS12798.1	19	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004793	0.93287	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.72615	-0.67;-0.67	3.98	3.98	0.46160	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	U	0.000032	T	0.78394	0.4276	L	0.45137	1.4	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.81484	-0.0912	10	0.87932	D	0	.	15.2164	0.73270	0.0:1.0:0.0:0.0	.	547	Q9BQG1	SYT3_HUMAN	H	547	ENSP00000340914:R547H;ENSP00000438883:R547H	ENSP00000340914:R547H	R	-	2	0	SYT3	55820298	0.991000	0.36638	1.000000	0.80357	0.943000	0.58893	7.314000	0.78988	1.969000	0.57287	0.561000	0.74099	CGC	SYT3	-	superfamily_C2_dom,smart_C2_dom	ENSG00000213023		0.682	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	-	0	24	0	C	NM_032298		51128486	-1	tier1	-	no_errors	ENST00000338916	ensembl	human	known	74_37	missense	66.67	12	24	SNP	1.000	T	T	51128486	C	T	51128486	3	4	157	1	0	0	0	0	1	0	0	0	15522	768	27	1	140	1	SYT3	19	51128486	Missense_Mutation	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09	2249555	51128486	8000497	205	40063											
TPX2	22974	genome.wustl.edu	37	chr20	30381807	30381807	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagaaggagaagaaaataAaagaactgcagaaaggggag	22	3	13	3	0	0	5	0	0	0	5	0	7	0	6	0	3	3	1	0	3	9	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr20:30381807A>C	ENST00000300403.6	+	14	2194	c.1666A>C	c.(1666-1668)Aaa>Caa	p.K556Q	TPX2_ENST00000340513.4_Missense_Mutation_p.K592Q	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	556					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GAAGAAAATAAAAGAACTGCA	0.393																																																	0													105	105	105					20																	30381807		2203	4300	6503	SO:0001583	missense	0			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1666A>C	20.37:g.30381807A>C	ENSP00000300403:p.Lys556Gln		Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C	p.K592Q	ENST00000300403.6	37	c.1774	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	A	13.27	2.187501	0.38609	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.35421	1.31	5.82	3.56	0.40772	.	0.119039	0.53938	D	0.000043	T	0.23572	0.0570	N	0.19112	0.55	0.38653	D	0.951881	D;P	0.53151	0.958;0.872	P;B	0.50082	0.63;0.325	T	0.21518	-1.0243	10	0.11794	T	0.64	-15.338	3.3214	0.07052	0.5876:0.2114:0.2009:0.0	.	592;556	Q96RR5;Q9ULW0	.;TPX2_HUMAN	Q	556;592	ENSP00000341145:K592Q	ENSP00000300403:K556Q	K	+	1	0	TPX2	29845468	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.225000	0.58600	1.009000	0.39289	-0.316000	0.08728	AAA	TPX2	-	NULL	ENSG00000088325		0.393	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2	-	0	54	0	A			30381807	1	tier1	-	no_errors	ENST00000340513	ensembl	human	known	74_37	missense	14.47	65	11	SNP	1.000	C	C	30381807	A	C	30381807	3	2	157	1	0	0	0	0	1	0	0	0	16480	15	1	4	1712	4	TPX2	20	30381807	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09		30381807	32643713	206	40064											
SLC12A5	57468	genome.wustl.edu	37	chr20	44676707	44676707	+	Silent	SNP	A	A	C	1	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	cgcctggaggaagggcccccAcacaccaagaactggaggtt	11	4	13	13	1	0	1	0	0	0	1	0	4	0	4	4	5	1	1	4	5	3	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr20:44676707A>C	ENST00000454036.2	+	16	2113	c.2064A>C	c.(2062-2064)ccA>ccC	p.P688P	SLC12A5_ENST00000243964.3_Silent_p.P665P	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	688					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)	AAGGGCCCCCACACACCAAGA	0.622																																																	0													65	48	54					20																	44676707		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2064A>C	20.37:g.44676707A>C			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P688	ENST00000454036.2	37	c.2064	CCDS46610.1	20																																																																																			SLC12A5	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.622	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0	20	0	A			44676707	1	tier1	-	no_errors	ENST00000454036	ensembl	human	known	74_37	silent	68.42	12	26	SNP	0.968	C	C	44676707	A	C	44676707	2	2	157	1	0	0	0	0	0	0	0	1	14431	146	6	4		4	SLC12A5	20	44676707	Silent	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	14294900	44676707	18348813	207	40065											
DOPEY2	9980	genome.wustl.edu	37	chr21	37617444	37617444	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctgaagagcacctgcctCtgagccagttcaccacagtg	9	8	10	14	0	3	3	1	2	2	1	3	3	3	3	4	0	3	3	4	0	1	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr21:37617444C>T	ENST00000399151.3	+	19	3251	c.3166C>T	c.(3166-3168)Ctg>Ttg	p.L1056L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1056					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCACCTGCCTCTGAGCCAGTT	0.582																																																	0													32	33	33					21																	37617444		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3166C>T	21.37:g.37617444C>T			D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	pfam_Dopey_N	p.L1056	ENST00000399151.3	37	c.3166	CCDS13643.1	21																																																																																			DOPEY2	-	NULL	ENSG00000142197		0.582	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	-	0	35	0	C	NM_005128		37617444	1	tier1	-	no_errors	ENST00000399151	ensembl	human	known	74_37	silent	26.53	36	13	SNP	0.284	T	T	37617444	C	T	37617444	2	4	157	1	0	0	0	0	0	0	0	1	4722	912	32	3		3	DOPEY2	21	37617444	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09		37617444	10512451	208	40066											
PI4KA	5297	genome.wustl.edu	37	chr22	21088410	21088410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcagggacatggagcgctGcagcaggctggagaagatct	10	7	16	8	1	2	2	1	0	1	2	2	5	2	4	0	4	3	5	0	4	1	1			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chr22:21088410G>T	ENST00000572273.1	-	34	4029	c.3799C>A	c.(3799-3801)Cag>Aag	p.Q1267K	PI4KA_ENST00000414196.3_Missense_Mutation_p.Q77K|PI4KA_ENST00000255882.6_Missense_Mutation_p.Q1325K			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1267					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)			ATGGAGCGCTGCAGCAGGCTG	0.622																																					GBM(136;1332 1831 3115 23601 50806)												0													21	18	19					22																	21088410		2197	4296	6493	SO:0001583	missense	0			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.3799C>A	22.37:g.21088410G>T	ENSP00000458238:p.Gln1267Lys		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q1325K	ENST00000572273.1	37	c.3973		22	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030332	0.75504	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.77620	-1.11	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.66939	2.045	0.80722	D	1	P	0.39326	0.668	B	0.39660	0.306	T	0.75274	-0.3375	10	0.21540	T	0.41	-24.3326	17.9749	0.89124	0.0:0.0:1.0:0.0	.	1267	P42356	PI4KA_HUMAN	K	1267;77	ENSP00000402981:Q77K	ENSP00000255882:Q1267K	Q	-	1	0	PI4KA	19418410	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.618000	0.98365	2.475000	0.83589	0.555000	0.69702	CAG	PI4KA	-	NULL	ENSG00000241973		0.622	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0	55	0	G	NM_058004		21088410	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	21088410	G	T	21088410	3	4	157	1	0	0	0	0	1	0	0	0	11912	1328	46	3	2423	3	PI4KA	22	21088410	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09		21088410	30216156	209	40067											
ASMTL	8623	genome.wustl.edu	37	chrX	1537981	1537981	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gcccgcatgaacctcagccgCgtctccgggctctggtagta	6	8	12	15	4	3	1	1	1	2	0	4	1	3	1	4	2	2	4	4	2	3	2			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chrX:1537981C>T	ENST00000381317.3	-	10	1304	c.1272G>A	c.(1270-1272)acG>acA	p.T424T	ASMTL_ENST00000416733.2_Silent_p.T348T|ASMTL_ENST00000381333.4_Silent_p.T408T|ASMTL_ENST00000534940.1_Silent_p.T366T	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	424	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTCAGCCGCGTCTCCGGGC	0.667													c|||	6	0.00119808	0.0045	0	5008	,	,		15115	0		0	False		,,,				2504	0																0									,,	9,4213		0,9,2102	33	44	40		1098,1224,1272	0.3	0	X		40	0,8438		0,0,4219	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	0,9,6321	TT,TC,CC		0.0,0.2132,0.0711	,,	366/564,408/606,424/622	1537981	9,12651	2111	4219	6330	SO:0001819	synonymous_variant	0			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1272G>A	X.37:g.1537981C>T			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.T424	ENST00000381317.3	37	c.1272	CCDS43917.1	X																																																																																			ASMTL	-	pfam_O_MeTrfase_2	ENSG00000169093		0.667	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	-	0	117	0	C	NM_004192		1537981	-1	tier1	-	no_errors	ENST00000381317	ensembl	human	known	74_37	silent	21.43	77	21	SNP	0.144	T	T	1537981	C	T	1537981	2	4	157	1	0	0	0	0	0	0	0	1	1047	755	27	1		1	ASMTL	23	1537981	Silent	SNP	C	TCGA-V5-A7RE-01A-11D-A351-09		1537981	153732579	210	40068											
USP11	8237	genome.wustl.edu	37	chrX	47104174	47104174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaggctgggcccagctctgGagtcacgaacaggtgcccgt	7	6	15	13	2	2	0	1	0	1	0	2	2	2	1	2	4	3	3	2	4	1	0			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chrX:47104174G>T	ENST00000218348.3	+	15	2066	c.2066G>T	c.(2065-2067)gGa>gTa	p.G689V	USP11_ENST00000377107.2_Missense_Mutation_p.G646V	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	689	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						CCCAGCTCTGGAGTCACGAAC	0.622																																																	0													31	24	26					X																	47104174		2203	4300	6503	SO:0001583	missense	0			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.2066G>T	X.37:g.47104174G>T	ENSP00000218348:p.Gly689Val		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.G689V	ENST00000218348.3	37	c.2066	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335055	0.24253	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.20738	2.07;2.05	4.9	1.78	0.24846	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.965677	0.08550	N	0.929213	T	0.14527	0.0351	N	0.16368	0.405	0.24621	N	0.993675	P;P	0.43542	0.81;0.669	P;B	0.44860	0.462;0.435	T	0.20773	-1.0265	10	0.27082	T	0.32	-6.024	5.986	0.19434	0.1101:0.3646:0.5253:0.0	.	415;689	B3KP28;P51784	.;UBP11_HUMAN	V	646;689	ENSP00000366311:G646V;ENSP00000218348:G689V	ENSP00000218348:G689V	G	+	2	0	USP11	46989118	0.993000	0.37304	0.435000	0.26784	0.826000	0.46750	0.987000	0.29603	0.826000	0.34661	0.422000	0.28245	GGA	USP11	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000102226		0.622	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		-	0	21	0	G	NM_004651		47104174	1	tier1	-	no_errors	ENST00000218348	ensembl	human	known	74_37	missense	79.55	9	35	SNP	0.002	T	T	47104174	G	T	47104174	3	4	157	1	0	0	0	0	1	0	0	0	17091	1174	41	3	2124	3	USP11	23	47104174	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	45566193	47104174	108166386	211	40069											
YIPF6	286451	genome.wustl.edu	37	chrX	67751767	67751767	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gccagcctccaaaccgcagaGccctagctgtttatcctgtt	8	10	8	15	1	0	1	0	0	0	1	2	1	2	1	6	0	4	4	6	0	3	4	rs368588647		TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chrX:67751767G>A	ENST00000462683.1	+	7	1381	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	YIPF6_ENST00000374622.2_Missense_Mutation_p.A170T	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	213					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						AAACCGCAGAGCCCTAGCTGT	0.388																																																	0													162	114	130					X																	67751767		2193	4292	6485	SO:0001583	missense	0			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.637G>A	X.37:g.67751767G>A	ENSP00000417573:p.Ala213Thr		B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	pfam_Yip1	p.A213T	ENST00000462683.1	37	c.637	CCDS14389.1	X	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889311	0.52014	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	T;T;T	0.61274	0.12;0.12;0.12	5.8	4.0	0.46444	Yip1 domain (1);	0.050135	0.85682	D	0.000000	T	0.68622	0.3021	M	0.76002	2.32	0.58432	D	0.999998	P;P	0.51057	0.941;0.774	P;P	0.54664	0.758;0.688	T	0.67643	-0.5618	10	0.39692	T	0.17	-16.0639	13.4385	0.61099	0.0:0.2921:0.7079:0.0	.	170;213	G5E997;Q96EC8	.;YIPF6_HUMAN	T	213;170;170	ENSP00000417573:A213T;ENSP00000401799:A170T;ENSP00000363751:A170T	ENSP00000363751:A170T	A	+	1	0	YIPF6	67668492	1.000000	0.71417	0.234000	0.24042	0.210000	0.24377	6.350000	0.73017	0.572000	0.29383	0.600000	0.82982	GCC	YIPF6	-	pfam_Yip1	ENSG00000181704		0.388	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF6	HGNC	protein_coding	OTTHUMT00000057016.1		0	32	0	G	NM_173834		67751767	1			no_errors	ENST00000462683	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	A	A	67751767	G	A	67751767	3	1	157	1	0	0	0	0	1	0	0	0	17531	971	34	3	663	3	YIPF6	23	67751767	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	20647593	67751767	87518793	212	40070											
GRIA3	2892	genome.wustl.edu	37	chrX	122616852	122616852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagaattatgctacatacaGagaaggctacaacgtgtatg	15	10	9	7	1	1	2	1	0	0	2	1	3	1	2	0	1	5	3	0	1	8	5			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chrX:122616852G>A	ENST00000371251.1	+	15	2694	c.2642G>A	c.(2641-2643)aGa>aAa	p.R881K	GRIA3_ENST00000371256.5_Missense_Mutation_p.R881K|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000264357.5_Missense_Mutation_p.R881K			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	881					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GCTACATACAGAGAAGGCTAC	0.418																																																	0													119	104	109					X																	122616852		2203	4300	6503	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2642G>A	X.37:g.122616852G>A	ENSP00000360297:p.Arg881Lys		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R881K	ENST00000371251.1	37	c.2642	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	11.36	1.616076	0.28801	.	.	ENSG00000125675	ENST00000264357;ENST00000371256;ENST00000371251	T;T;T	0.12774	2.66;2.65;2.66	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	L	0.43701	1.375	0.80722	D	1	P;P	0.47910	0.841;0.902	P;D	0.63033	0.815;0.91	T	0.01767	-1.1278	10	0.07030	T	0.85	.	17.8613	0.88781	0.0:0.0:1.0:0.0	.	881;881	P42263;P42263-2	GRIA3_HUMAN;.	K	881	ENSP00000264357:R881K;ENSP00000360302:R881K;ENSP00000360297:R881K	ENSP00000264357:R881K	R	+	2	0	GRIA3	122444533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.829000	0.75314	2.436000	0.82500	0.600000	0.82982	AGA	GRIA3	-	NULL	ENSG00000125675		0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	-	0	42	0	G	NM_000828		122616852	1	tier1	-	no_errors	ENST00000264357	ensembl	human	known	74_37	missense	78.57	12	44	SNP	1.000	A	A	122616852	G	A	122616852	3	1	157	1	0	0	0	0	1	0	0	0	6796	942	33	3	2819	3	GRIA3	23	122616852	Missense_Mutation	SNP	G	TCGA-V5-A7RE-01A-11D-A351-09	54865085	122616852	32653708	213	40071											
CCDC160	347475	genome.wustl.edu	37	chrX	133379047	133379047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattttccaactaaatgaaAtagaacaagaacaaaattta	22	11	3	5	0	0	3	0	1	0	2	1	3	1	3	1	0	3	0	1	0	12	7			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chrX:133379047A>G	ENST00000517294.1	+	3	600	c.217A>G	c.(217-219)Ata>Gta	p.I73V	CCDC160_ENST00000370809.4_Missense_Mutation_p.I73V			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	73										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						ACTAAATGAAATAGAACAAGA	0.294																																																	0													17	14	15					X																	133379047		1775	4026	5801	SO:0001583	missense	0			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.217A>G	X.37:g.133379047A>G	ENSP00000427951:p.Ile73Val			Missense_Mutation	SNP	NULL	p.I73V	ENST00000517294.1	37	c.217	CCDS48171.1	X	.	.	.	.	.	.	.	.	.	.	A	1.334	-0.595964	0.03771	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	5.31	2.78	0.32641	.	0.828034	0.10555	N	0.660994	T	0.14787	0.0357	N	0.08118	0	0.09310	N	1	B	0.21225	0.053	B	0.23018	0.043	T	0.31888	-0.9927	9	0.12430	T	0.62	0.0469	1.2251	0.01932	0.4731:0.2544:0.108:0.1646	.	73	A6NGH7	CC160_HUMAN	V	73	.	ENSP00000359845:I73V	I	+	1	0	CCDC160	133206713	0.010000	0.17322	0.010000	0.14722	0.069000	0.16628	0.489000	0.22387	0.758000	0.33059	0.481000	0.45027	ATA	CCDC160	-	NULL	ENSG00000203952		0.294	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	-	0	47	0	A	NM_001101357		133379047	1	tier1	-	no_errors	ENST00000370809	ensembl	human	known	74_37	missense	41.03	46	32	SNP	0.006	G	G	133379047	A	G	133379047	3	3	157	1	0	0	0	0	1	0	0	0	2799	101	4	4	219	4	CCDC160	23	133379047	Missense_Mutation	SNP	A	TCGA-V5-A7RE-01A-11D-A351-09	10762195	133379047	21891513	214	40072											
F9	2158	genome.wustl.edu	37	chrX	138643757	138643757	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattattcctcaccacaacTacaatgcagctattaataag	16	11	4	10	0	1	0	1	0	0	0	2	1	2	0	2	0	4	2	2	0	8	6			TCGA-V5-A7RE-01A-11D-A351-09	TCGA-V5-A7RE-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ed6348e8-0f78-481c-8e9f-d69e105a6fda	e15a5f53-3831-47e4-9f8a-ced7c5d38553	g.chrX:138643757T>C	ENST00000218099.2	+	8	920	c.913T>C	c.(913-915)Tac>Cac	p.Y305H	F9_ENST00000394090.2_Missense_Mutation_p.Y267H	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	305	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)	TCACCACAACTACAATGCAGC	0.363																																																	0			GRCh37	CM001680	F9	M							176	151	159					X																	138643757		2203	4299	6502	SO:0001583	missense	0			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.913T>C	X.37:g.138643757T>C	ENSP00000218099:p.Tyr305His		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain	p.Y305H	ENST00000218099.2	37	c.913	CCDS14666.1	X	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657780	0.67586	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.95690	-3.78;-3.78	5.42	5.42	0.78866	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.98829	1.0750	10	0.87932	D	0	.	13.5766	0.61877	0.0:0.0:0.0:1.0	.	267;305	Q5FBE1;P00740	.;FA9_HUMAN	H	305;267	ENSP00000218099:Y305H;ENSP00000377650:Y267H	ENSP00000218099:Y305H	Y	+	1	0	F9	138471423	1.000000	0.71417	0.887000	0.34795	0.666000	0.39218	5.945000	0.70226	1.801000	0.52704	0.441000	0.28932	TAC	F9	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1	ENSG00000101981		0.363	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F9	HGNC	protein_coding	OTTHUMT00000058557.1	-	0	35	0	T			138643757	1	tier1	-	no_errors	ENST00000218099	ensembl	human	known	74_37	missense	37.50	30	18	SNP	0.998	C	C	138643757	T	C	138643757	3	2	157	1	0	0	0	0	1	0	0	0	5370	1522	53	4	943	4	F9	23	138643757	Missense_Mutation	SNP	T	TCGA-V5-A7RE-01A-11D-A351-09	5264710	138643757	16626803	215	40073											
AJAP1	55966	genome.wustl.edu	37	chr1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-																															acggaagacaactgtggccgCcaccaccaccaccaccacca																								rs141981296	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CCA	CCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_ENST00000378190.3_In_Frame_Del_p.T225del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		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)		ACTGTGGccgccaccaccaccac	0.635																																																	1	Insertion - In frame(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	0			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.653_655delCCA	1.37:g.4772592_4772594delCCA	ENSP00000367433:p.Thr225del		Q9Y229	In_Frame_Del	DEL	NULL	p.T222in_frame_del	ENST00000378191.4	37	c.653_655	CCDS54.1	1																																																																																			AJAP1	-	NULL	ENSG00000196581		0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3		0	79	0	CCA	NM_018836		4772585	1			no_errors	ENST00000378190	ensembl	human	known	74_37	in_frame_del	5.33	71	4	DEL	0.919:0.855:0.873	0	-	4772585	CCA	-	4772583	7	5	158	1	0	1	0	1	0	0	0	0	438	739	26	0	659	0	AJAP1	1	4772583	In_Frame_Del	DEL	CCA	TCGA-V5-AASV-01A-11D-A387-09		4772583	244478038	1	40074											
EPHA10	284656	genome.wustl.edu	37	chr1	38227500	38227500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccggctgccgcctaggcGgggacgcccacggcccaggt	4	3	18	16	5	0	0	0	0	0	0	0	1	0	1	5	7	1	1	5	7	1	1	rs45567442	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:38227500G>T	ENST00000373048.4	-	3	426	c.427C>A	c.(427-429)Cgc>Agc	p.R143S	EPHA10_ENST00000427468.2_Missense_Mutation_p.R143S|EPHA10_ENST00000319637.6_Missense_Mutation_p.R143S	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	143	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)				CCGCCTAGGCGGGGACGCCCA	0.657																																																	0													35	41	39					1																	38227500		2203	4299	6502	SO:0001583	missense	0			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.427C>A	1.37:g.38227500G>T	ENSP00000362139:p.Arg143Ser		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R143S	ENST00000373048.4	37	c.427	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309691	0.23821	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03413	3.94;3.94;3.94	4.75	2.66	0.31614	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.179045	0.27437	N	0.019363	T	0.01254	0.0041	N	0.01188	-0.97	0.80722	D	1	B;B	0.33299	0.407;0.006	B;B	0.33339	0.162;0.012	T	0.57636	-0.7777	10	0.10377	T	0.69	.	7.7623	0.28959	0.0:0.3334:0.4949:0.1717	.	143;143	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	S	143	ENSP00000397746:R143S;ENSP00000362139:R143S;ENSP00000316395:R143S	ENSP00000316395:R143S	R	-	1	0	EPHA10	38000087	0.003000	0.15002	0.285000	0.24819	0.966000	0.64601	1.207000	0.32333	1.284000	0.44531	0.643000	0.83706	CGC	EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000183317		0.657	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2	-	0	39	0	G	NM_173641		38227500	-1	tier1	-	no_errors	ENST00000427468	ensembl	human	known	74_37	missense	39.39	20	13	SNP	0.947	T	T	38227500	G	T	38227500	3	4	158	1	0	0	0	0	1	0	0	0	5182	1116	39	2	2697	2	EPHA10	1	38227500	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	33454917	38227500	211023121	2	40075											
ROR1	4919	genome.wustl.edu	37	chr1	64643832	64643832	+	Missense_Mutation	SNP	A	A	G	1	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	cagtaaccaggaagtgattgAgatggtgagaaaacggcagc	15	6	14	6	1	0	3	0	3	0	2	0	6	0	4	1	3	3	2	1	3	4	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:64643832A>G	ENST00000371079.1	+	9	2483	c.2108A>G	c.(2107-2109)gAg>gGg	p.E703G	ROR1_ENST00000545203.1_Missense_Mutation_p.E154G	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	703	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GAAGTGATTGAGATGGTGAGA	0.458																																																	0													70	71	71					1																	64643832		2203	4300	6503	SO:0001583	missense	0			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2108A>G	1.37:g.64643832A>G	ENSP00000360120:p.Glu703Gly		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E703G	ENST00000371079.1	37	c.2108	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140717	0.77775	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	D;D	0.83755	-1.76;-1.76	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43416	D	0.000570	D	0.84951	0.5586	L	0.42632	1.34	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	D	0.86251	0.1649	10	0.54805	T	0.06	.	16.4728	0.84119	1.0:0.0:0.0:0.0	.	703	Q01973	ROR1_HUMAN	G	703;706;154	ENSP00000360120:E703G;ENSP00000441637:E154G	ENSP00000360120:E703G	E	+	2	0	ROR1	64416420	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.339000	0.96797	2.296000	0.77279	0.482000	0.46254	GAG	ROR1	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000185483		0.458	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1	-	0	27	0	A	NM_005012		64643832	1	tier1	-	no_errors	ENST00000371079	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	G	G	64643832	A	G	64643832	3	3	158	1	0	0	0	0	1	0	0	0	13571	304	11	4	2150	4	ROR1	1	64643832	Missense_Mutation	SNP	A	TCGA-V5-AASV-01A-11D-A387-09	26416332	64643832	184606789	3	40076											
FAM19A3	284467	genome.wustl.edu	37	chr1	113264887	113264887	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	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	ggtcgagcggaactggagcaCgggcggctggctgctggcac	6	5	19	11	4	0	0	0	0	0	0	1	3	0	2	0	7	4	5	0	7	1	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:113264887C>G	ENST00000361886.3	+	2	91	c.32C>G	c.(31-33)aCg>aGg	p.T11R	FAM19A3_ENST00000369630.3_Missense_Mutation_p.T11R	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	11						extracellular region (GO:0005576)		p.T11M(1)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTGGAGCACGGGCGGCTGG	0.642																																																	1	Substitution - Missense(1)	lung(1)											90	88	89					1																	113264887		2203	4300	6503	SO:0001583	missense	0			AY325119	CCDS856.1, CCDS30806.1	1p13.2	2008-02-05			ENSG00000184599	ENSG00000184599			21590	protein-coding gene	gene with protein product						15028294	Standard	NM_182759		Approved	TAFA-3	uc001ecu.3	Q7Z5A8	OTTHUMG00000012020	ENST00000361886.3:c.32C>G	1.37:g.113264887C>G	ENSP00000355042:p.Thr11Arg		B7ZLU0|Q2M1P9|Q7Z5A6	Missense_Mutation	SNP	pfam_Chemokine-like_FAM19A2	p.T11R	ENST00000361886.3	37	c.32	CCDS856.1	1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677239	0.29783	.	.	ENSG00000184599	ENST00000369630;ENST00000361886	.	.	.	5.83	2.84	0.33178	.	0.817608	0.10311	N	0.689992	T	0.10465	0.0256	N	0.25647	0.755	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.10450	0.002;0.005	T	0.38564	-0.9655	9	0.15066	T	0.55	2.0201	8.3662	0.32389	0.0:0.6259:0.2935:0.0806	.	11;11	Q7Z5A8;Q7Z5A8-2	F19A3_HUMAN;.	R	11	.	ENSP00000355042:T11R	T	+	2	0	FAM19A3	113066410	0.000000	0.05858	0.003000	0.11579	0.886000	0.51366	-0.139000	0.10358	0.327000	0.23409	0.561000	0.74099	ACG	FAM19A3	-	NULL	ENSG00000184599		0.642	FAM19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A3	HGNC	protein_coding	OTTHUMT00000033255.1		0	25	0	C	NM_182759		113264887	1			no_errors	ENST00000369630	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.030	G	G	113264887	C	G	113264887	3	3	158	1	0	0	0	0	1	0	0	0	5552	536	19	5	34	5	FAM19A3	1	113264887	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	48621055	113264887	135985734	4	40077											
GJA8	2703	genome.wustl.edu	37	chr1	147381177	147381177	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcaggagaaggtggcCgtgccagagggggagaaagt	12	3	21	5	1	0	3	0	0	0	3	0	7	0	4	2	6	2	1	2	6	2	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:147381177C>A	ENST00000369235.1	+	1	1095	c.1095C>A	c.(1093-1095)gcC>gcA	p.A365A	GJA8_ENST00000240986.4_Silent_p.A365A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	365					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.A365A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGAAGGTGGCCGTGCCAGAGG	0.627																																					Melanoma(76;1255 1795 8195 52096)												1	Substitution - coding silent(1)	pancreas(1)											46	47	46					1																	147381177		2200	4294	6494	SO:0001819	synonymous_variant	0			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1095C>A	1.37:g.147381177C>A			A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50	p.A365	ENST00000369235.1	37	c.1095	CCDS30834.1	1																																																																																			GJA8	-	NULL	ENSG00000121634		0.627	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA8	HGNC	protein_coding	OTTHUMT00000060647.1		0	36	0	C	NM_005267		147381177	1			no_errors	ENST00000240986	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.000	A	A	147381177	C	A	147381177	2	1	158	1	0	0	0	0	0	0	0	1	6431	639	23	2		2	GJA8	1	147381177	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	34116290	147381177	101869444	5	40078											
SETDB1	9869	genome.wustl.edu	37	chr1	150923484	150923484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtggcctacagcaaggaaCgtatcccgggcaagggtgtt	10	7	15	9	2	0	0	0	0	0	0	1	1	1	1	2	5	3	4	2	5	5	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:150923484C>T	ENST00000271640.5	+	13	2321	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	SETDB1_ENST00000368969.4_Missense_Mutation_p.R711C|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	711					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)			CAGCAAGGAACGTATCCCGGG	0.512																																																	0													82	86	84					1																	150923484		2203	4300	6503	SO:0001583	missense	0			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.2131C>T	1.37:g.150923484C>T	ENSP00000271640:p.Arg711Cys		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.R711C	ENST00000271640.5	37	c.2131	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644162	0.67244	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.89343	-2.5;-2.5;-2.5	5.66	4.67	0.58626	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.000000	0.85682	D	0.000000	D	0.86657	0.5985	M	0.79805	2.47	0.80722	D	1	P;B;B	0.42556	0.783;0.214;0.254	B;B;B	0.38296	0.27;0.049;0.082	D	0.89751	0.3940	10	0.72032	D	0.01	.	16.4729	0.84119	0.1397:0.8603:0.0:0.0	.	711;711;711	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	C	711	ENSP00000271640:R711C;ENSP00000357965:R711C;ENSP00000432348:R711C	ENSP00000271640:R711C	R	+	1	0	SETDB1	149190108	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	1.063000	0.30567	2.656000	0.90262	0.655000	0.94253	CGT	SETDB1	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub	ENSG00000143379		0.512	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0	55	0	C			150923484	1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	150923484	C	T	150923484	3	4	158	1	0	0	0	0	1	0	0	0	14183	536	19	1	2177	1	SETDB1	1	150923484	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	3542307	150923484	98327137	6	40079											
SETDB1	9869	genome.wustl.edu	37	chr1	150936765	150936765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttacttgggactacaactaCgaggtgggcagtgtggaagg	10	9	15	7	1	0	0	0	0	0	0	0	3	0	2	0	5	4	1	0	5	5	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:150936765C>T	ENST00000271640.5	+	22	3991	c.3801C>T	c.(3799-3801)taC>taT	p.Y1267Y	SETDB1_ENST00000368969.4_Silent_p.Y1266Y|CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000561294.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1267					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)			ACTACAACTACGAGGTGGGCA	0.522																																																	0													160	123	135					1																	150936765		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3801C>T	1.37:g.150936765C>T			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.Y1267	ENST00000271640.5	37	c.3801	CCDS44217.1	1																																																																																			SETDB1	-	smart_SET_dom,pfscan_SET_dom	ENSG00000143379		0.522	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0	97	0	C			150936765	1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	silent	34.29	69	36	SNP	0.464	T	T	150936765	C	T	150936765	2	4	158	1	0	0	0	0	0	0	0	1	14183	547	19	1		1	SETDB1	1	150936765	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	13281	150936765	98313856	7	40080											
TCHHL1	126637	genome.wustl.edu	37	chr1	152058560	152058560	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgaatggtgactcagggtccTccccctggtaaccatcctcc	7	10	9	15	0	1	2	1	2	0	0	5	2	5	2	6	3	1	1	6	3	2	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:152058560T>C	ENST00000368806.1	-	3	1662	c.1598A>G	c.(1597-1599)gAg>gGg	p.E533G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	533							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)			CTCAGGGTCCTCCCCCTGGTA	0.507																																																	0													131	120	124					1																	152058560		2203	4300	6503	SO:0001583	missense	0				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.1598A>G	1.37:g.152058560T>C	ENSP00000357796:p.Glu533Gly		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.E533G	ENST00000368806.1	37	c.1598	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	17.62	3.434206	0.62955	.	.	ENSG00000182898	ENST00000368806	T	0.34667	1.35	5.45	5.45	0.79879	.	0.781386	0.10838	N	0.628617	T	0.34832	0.0911	L	0.54323	1.7	0.09310	N	1	D	0.62365	0.991	P	0.55667	0.781	T	0.22941	-1.0202	10	0.49607	T	0.09	-1.4011	11.8985	0.52669	0.0:0.0:0.0:1.0	.	533	Q5QJ38	TCHL1_HUMAN	G	533	ENSP00000357796:E533G	ENSP00000357796:E533G	E	-	2	0	TCHHL1	150325184	0.049000	0.20398	0.003000	0.11579	0.014000	0.08584	3.783000	0.55409	2.069000	0.61940	0.528000	0.53228	GAG	TCHHL1	-	NULL	ENSG00000182898		0.507	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2		0	28	0	T	XM_060104		152058560	-1			no_errors	ENST00000368806	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.006	C	C	152058560	T	C	152058560	3	2	158	1	0	0	0	0	1	0	0	0	15748	1551	54	4	1120	4	TCHHL1	1	152058560	Missense_Mutation	SNP	T	TCGA-V5-AASV-01A-11D-A387-09	1121795	152058560	97192061	8	40081											
TCHH	7062	genome.wustl.edu	37	chr1	152085342	152085342	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctcgaatctcctttggtcTtcttcttgcctgcgatcttg	3	17	9	12	2	5	0	0	0	5	0	7	2	5	0	2	2	2	1	2	2	1	5			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:152085342T>G	ENST00000368804.1	-	2	350	c.351A>C	c.(349-351)gaA>gaC	p.E117D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	117					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)			TCCTTTGGTCTTCTTCTTGCC	0.577																																																	0													216	207	209					1																	152085342		1963	4160	6123	SO:0001583	missense	0			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.351A>C	1.37:g.152085342T>G	ENSP00000357794:p.Glu117Asp		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.E117D	ENST00000368804.1	37	c.351	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	t	7.404	0.633347	0.14322	.	.	ENSG00000159450	ENST00000368804	T	0.05925	3.37	1.28	1.28	0.21552	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.19300	N	0.999977	D	0.55385	0.971	P	0.45071	0.468	T	0.36601	-0.9741	9	0.15499	T	0.54	.	4.6075	0.12385	0.0:0.0:0.0:1.0	.	117	Q07283	TRHY_HUMAN	D	117	ENSP00000357794:E117D	ENSP00000357794:E117D	E	-	3	2	TCHH	150351966	0.999000	0.42202	0.989000	0.46669	0.735000	0.41995	0.104000	0.15313	0.559000	0.29153	0.411000	0.27672	GAA	TCHH	-	NULL	ENSG00000159450		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	67	0	T	NM_007113		152085342	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	29.09	39	16	SNP	0.985	G	G	152085342	T	G	152085342	3	3	158	1	0	0	0	0	1	0	0	0	15747	1606	56	4	5484	4	TCHH	1	152085342	Missense_Mutation	SNP	T	TCGA-V5-AASV-01A-11D-A387-09	26782	152085342	97165279	9	40082											
NUP210L	91181	genome.wustl.edu	37	chr1	154031052	154031052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctcaccttatcaatcaGatcaagctccagctcttgta	11	13	5	12	0	5	1	4	0	2	1	7	1	6	1	2	0	2	3	2	0	4	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:154031052G>T	ENST00000368559.3	-	21	3039	c.2968C>A	c.(2968-2970)Ctg>Atg	p.L990M	NUP210L_ENST00000271854.3_Missense_Mutation_p.L990M|NUP210L_ENST00000368553.1_5'Flank	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	990					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)			TTATCAATCAGATCAAGCTCC	0.418																																																	0													88	82	84					1																	154031052		1885	4105	5990	SO:0001583	missense	0			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.2968C>A	1.37:g.154031052G>T	ENSP00000357547:p.Leu990Met		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.L990M	ENST00000368559.3	37	c.2968	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919658	0.52653	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.07800	3.42;3.16	4.33	2.41	0.29592	.	0.000000	0.41823	D	0.000809	T	0.08088	0.0202	L	0.41236	1.265	0.29017	N	0.886491	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.10683	-1.0619	10	0.48119	T	0.1	-13.9391	8.3327	0.32195	0.1929:0.0:0.8071:0.0	.	990;990	E7EP56;Q5VU65	.;P210L_HUMAN	M	990	ENSP00000357547:L990M;ENSP00000271854:L990M	ENSP00000271854:L990M	L	-	1	2	NUP210L	152297676	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.749000	0.26320	0.451000	0.26802	0.591000	0.81541	CTG	NUP210L	-	NULL	ENSG00000143552		0.418	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3		0	38	0	G	NM_207308		154031052	-1			no_errors	ENST00000368559	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	154031052	G	T	154031052	3	4	158	1	0	0	0	0	1	0	0	0	10800	933	33	3	2778	3	NUP210L	1	154031052	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	1945710	154031052	95219569	10	40083											
MEX3A	92312	genome.wustl.edu	37	chr1	156047372	156047372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ttcccgccgggctgtggccaCgtcctcccgtcgccctgtca	2	9	11	19	5	1	0	1	0	0	0	5	0	4	0	6	2	0	1	6	2	0	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:156047372C>T	ENST00000532414.2	-	2	555	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	MEX3A_ENST00000442784.1_5'UTR|AL355388.1_ENST00000410679.1_RNA	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	186	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCTGTGGCCACGTCCTCCCGT	0.612																																																	0													36	42	40					1																	156047372		2169	4272	6441	SO:0001583	missense	0			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.556G>A	1.37:g.156047372C>T	ENSP00000432845:p.Val186Met			Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.V186M	ENST00000532414.2	37	c.556	CCDS53377.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512776	0.85389	.	.	ENSG00000254726	ENST00000532414	T	0.45668	0.89	5.15	5.15	0.70609	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.60741	0.2292	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66428	-0.5926	10	0.87932	D	0	.	17.1894	0.86875	0.0:1.0:0.0:0.0	.	186	A1L020	MEX3A_HUMAN	M	186	ENSP00000432845:V186M	ENSP00000432845:V186M	V	-	1	0	MEX3A	154313996	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.409000	0.81822	0.462000	0.41574	GTG	MEX3A	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000254726		0.612	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3A	HGNC	protein_coding	OTTHUMT00000046218.3	-	0	47	0	C	NM_001093725		156047372	-1	tier1	-	no_errors	ENST00000532414	ensembl	human	known	74_37	missense	41.94	17	13	SNP	1.000	T	T	156047372	C	T	156047372	3	4	158	1	0	0	0	0	1	0	0	0	9547	536	19	1	1010	1	MEX3A	1	156047372	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	2016320	156047372	93203249	11	40084											
VANGL2	57216	genome.wustl.edu	37	chr1	160388867	160388867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tctcccatgatgacctcacaCgcatcgccaaggacatggag	11	7	9	14	2	2	2	1	2	1	0	4	4	2	4	3	2	0	1	3	2	1	0	rs149889263		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:160388867C>T	ENST00000368061.2	+	4	742	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	90					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGACCTCACACGCATCGCCAA	0.622																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	118	114	115		268	4.6	1	1	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	yes	missense	VANGL2	NM_020335.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	90/522	160388867	2,13004	2203	4300	6503	SO:0001583	missense	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.268C>T	1.37:g.160388867C>T	ENSP00000357040:p.Arg90Cys		D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.R90C	ENST00000368061.2	37	c.268	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980408	0.74474	2.27E-4	1.16E-4	ENSG00000162738	ENST00000368061	D	0.81499	-1.5	4.55	4.55	0.56014	.	0.067059	0.64402	D	0.000013	D	0.83936	0.5362	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	P	0.54815	0.761	D	0.86215	0.1627	10	0.59425	D	0.04	-16.0774	16.2429	0.82424	0.0:1.0:0.0:0.0	.	90	Q9ULK5	VANG2_HUMAN	C	90	ENSP00000357040:R90C	ENSP00000357040:R90C	R	+	1	0	VANGL2	158655491	0.998000	0.40836	0.996000	0.52242	0.986000	0.74619	3.702000	0.54800	2.232000	0.73038	0.563000	0.77884	CGC	VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.622	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	-	0	20	0	C	NM_020335		160388867	1	tier1	rs149889263	no_errors	ENST00000368061	ensembl	human	known	74_37	missense	44.00	14	11	SNP	0.996	T	T	160388867	C	T	160388867	3	4	158	1	0	0	0	0	1	0	0	0	17169	536	19	1	278	1	VANGL2	1	160388867	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	4341495	160388867	88861754	12	40085											
UHMK1	127933	genome.wustl.edu	37	chr1	162470727	162470727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagtatattcagacagacGggtatcgggctccagaagca	14	8	11	8	2	1	3	1	0	0	3	3	3	2	3	1	2	1	4	1	2	6	5			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:162470727G>T	ENST00000489294.1	+	3	744	c.586G>T	c.(586-588)Ggg>Tgg	p.G196W	UHMK1_ENST00000545294.1_Missense_Mutation_p.G122W|UHMK1_ENST00000538489.1_Missense_Mutation_p.G196W|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAGACAGACGGGTATCGGGC	0.423																																																	0													85	81	82					1																	162470727		2203	4300	6503	SO:0001583	missense	0			BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"RNA binding motif (RRM) containing"	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.586G>T	1.37:g.162470727G>T	ENSP00000420270:p.Gly196Trp		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_dom	p.G196W	ENST00000489294.1	37	c.586	CCDS1239.1	1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644603	0.47258	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.64991	-0.13;-0.13;-0.13	5.12	4.17	0.49024	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	0.52041	0.1710	N	0.16478	0.41	.	.	.	D;D;B	0.89917	1.0;0.997;0.05	D;D;B	0.81914	0.995;0.956;0.027	T	0.59375	-0.7466	9	0.40728	T	0.16	-0.6539	12.0549	0.53529	0.0:0.0:0.8273:0.1727	.	196;196;122	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	W	122;196;196	ENSP00000441226:G122W;ENSP00000446416:G196W;ENSP00000420270:G196W	ENSP00000420270:G196W	G	+	1	0	UHMK1	160737351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.675000	0.91195	1.450000	0.47717	0.650000	0.86243	GGG	UHMK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000152332		0.423	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHMK1	HGNC	protein_coding	OTTHUMT00000076788.1	-	0	68	0	G	NM_175866		162470727	1	tier1	-	no_errors	ENST00000489294	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	162470727	G	T	162470727	3	4	158	1	0	0	0	0	1	0	0	0	17015	1116	39	2	646	2	UHMK1	1	162470727	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	2081860	162470727	86779894	13	40086											
TNR	7143	genome.wustl.edu	37	chr1	175365941	175365941	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tcgcaagtcctctggaggggCaactaccgggaggcaataca	11	6	13	11	2	1	0	0	0	1	0	3	2	2	2	2	5	3	3	2	5	5	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:175365941C>A	ENST00000367674.2	-	5	1687	c.979G>T	c.(979-981)Gcc>Tcc	p.A327S	TNR_ENST00000263525.2_Missense_Mutation_p.A327S			Q92752	TENR_HUMAN	tenascin R	327					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)					TCTGGAGGGGCAACTACCGGG	0.547																																																	0													72	75	74					1																	175365941		2203	4300	6503	SO:0001583	missense	0			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.979G>T	1.37:g.175365941C>A	ENSP00000356646:p.Ala327Ser		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.A327S	ENST00000367674.2	37	c.979	CCDS1318.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.846|8.846	0.943522|0.943522	0.18281|0.18281	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.72394|.	-0.65;-0.65|.	5.4|5.4	4.48|4.48	0.54585|0.54585	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.192146|.	0.44688|.	D|.	0.000431|.	T|T	0.35885|0.35885	0.0947|0.0947	N|N	0.04746|0.04746	-0.17|-0.17	0.48511|0.48511	D|D	0.999664|0.999664	B|.	0.12630|.	0.006|.	B|.	0.22880|.	0.042|.	T|T	0.18304|0.18304	-1.0341|-1.0341	10|5	0.06099|.	T|.	0.92|.	.|.	14.1538|14.1538	0.65405|0.65405	0.0:0.9263:0.0:0.0737|0.0:0.9263:0.0:0.0737	.|.	327|.	Q92752|.	TENR_HUMAN|.	S|F	327|51	ENSP00000356646:A327S;ENSP00000263525:A327S|.	ENSP00000263525:A327S|.	A|C	-|-	1|2	0|0	TNR|TNR	173632564|173632564	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.300000|1.300000	0.33436|0.33436	1.247000|1.247000	0.43917|0.43917	0.563000|0.563000	0.77884|0.77884	GCC|TGC	TNR	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.547	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0	34	0	C	NM_003285		175365941	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	A	A	175365941	C	A	175365941	3	1	158	1	0	0	0	0	1	0	0	0	16385	710	25	3	3173	3	TNR	1	175365941	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	12895214	175365941	73884680	14	40087											
LGR6	59352	genome.wustl.edu	37	chr1	202276457	202276457	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacaccctctctgcctgcaGggatcttagctggaacgcca	8	9	9	15	1	3	0	1	0	2	0	4	2	3	2	3	2	4	2	3	2	2	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:202276457G>T	ENST00000367278.3	+	14	1297		c.e14-1		LGR6_ENST00000255432.7_Splice_Site|LGR6_ENST00000439764.2_Splice_Site	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6						G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTGCCTGCAGGGATCTTAGC	0.607																																																	0													152	120	131					1																	202276457		2203	4300	6503	SO:0001630	splice_region_variant	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1209-1G>T	1.37:g.202276457G>T			Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Splice_Site	SNP	-	e14-1	ENST00000367278.3	37	c.1209-1	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787058	0.70337	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2181	0.86950	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGR6	200543080	1.000000	0.71417	0.996000	0.52242	0.752000	0.42762	8.044000	0.89434	2.612000	0.88384	0.655000	0.94253	.	LGR6	-	-	ENSG00000133067		0.607	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1		0	37	0	G	NM_021636	Intron	202276457	1			no_errors	ENST00000367278	ensembl	human	known	74_37	splice_site	5.71	33	2	SNP	1.000	T	T	202276457	G	T	202276457	5	4	158	1	0	0	0	0	0	0	1	0	8787	1014	35	3	1409	3	LGR6	1	202276457	Splice_Site	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	26910516	202276457	46974164	15	40088											
PIK3C2B	5287	genome.wustl.edu	37	chr1	204438822	204438822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgccggagccgggacaGggcatcatactccatctgca	9	7	12	13	2	3	0	2	0	1	0	4	2	4	2	3	3	4	2	3	3	1	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:204438822G>C	ENST00000367187.3	-	3	665	c.109C>G	c.(109-111)Ctg>Gtg	p.L37V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L37V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	37	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGCCGGGACAGGGCATCATAC	0.582																																																	0													71	60	64					1																	204438822		2203	4300	6503	SO:0001583	missense	0			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.109C>G	1.37:g.204438822G>C	ENSP00000356155:p.Leu37Val		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.L37V	ENST00000367187.3	37	c.109	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756939	0.49362	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000415899;ENST00000429009	T;T	0.71103	-0.32;-0.54	5.22	4.29	0.51040	.	0.000000	0.43416	D	0.000571	T	0.71804	0.3383	N	0.19112	0.55	0.32867	D	0.50873	D;D	0.67145	0.996;0.993	D;D	0.80764	0.994;0.987	T	0.78526	-0.2170	10	0.72032	D	0.01	.	10.8071	0.46524	0.0928:0.0:0.9072:0.0	.	37;37	F5GWN5;O00750	.;P3C2B_HUMAN	V	37	ENSP00000356155:L37V;ENSP00000400561:L37V	ENSP00000356155:L37V	L	-	1	2	PIK3C2B	202705445	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	3.760000	0.55235	1.150000	0.42419	0.455000	0.32223	CTG	PIK3C2B	-	NULL	ENSG00000133056		0.582	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	-	0	77	0	G	NM_002646		204438822	-1	tier1	-	no_errors	ENST00000367187	ensembl	human	known	74_37	missense	42.19	37	27	SNP	1.000	C	C	204438822	G	C	204438822	3	2	158	1	0	0	0	0	1	0	0	0	11949	991	35	5	4923	5	PIK3C2B	1	204438822	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	2162365	204438822	44811799	16	40089											
NFASC	23114	genome.wustl.edu	37	chr1	204945917	204945917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaaggcctacctcaccGtgctaggtaactgcccatgc	8	8	10	15	1	1	0	1	0	0	0	1	0	1	0	5	3	5	2	5	3	4	3	rs113197466		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:204945917G>A	ENST00000401399.1	+	15	2024	c.1825G>A	c.(1825-1827)Gtg>Atg	p.V609M	NFASC_ENST00000404907.1_Missense_Mutation_p.V620M|NFASC_ENST00000539706.1_Missense_Mutation_p.V620M|NFASC_ENST00000360049.4_Missense_Mutation_p.V620M|NFASC_ENST00000367171.4_Missense_Mutation_p.V609M|NFASC_ENST00000339876.6_Missense_Mutation_p.V609M|NFASC_ENST00000367172.4_Missense_Mutation_p.V609M|NFASC_ENST00000367170.4_Missense_Mutation_p.V609M|NFASC_ENST00000513543.1_Missense_Mutation_p.V620M|NFASC_ENST00000338586.6_Missense_Mutation_p.V609M|NFASC_ENST00000403080.1_Missense_Mutation_p.V609M|NFASC_ENST00000367169.4_Missense_Mutation_p.V609M|NFASC_ENST00000338515.6_Missense_Mutation_p.V609M|NFASC_ENST00000404076.1_Missense_Mutation_p.V603M			O94856	NFASC_HUMAN	neurofascin	609					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)			CTACCTCACCGTGCTAGGTAA	0.657																																																	0													156	127	137					1																	204945917		2203	4300	6503	SO:0001583	missense	0			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.1825G>A	1.37:g.204945917G>A	ENSP00000385637:p.Val609Met		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V609M	ENST00000401399.1	37	c.1825	CCDS53460.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951521	0.73787	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	D;T;D;D;D;D;T;T;D;D;T;D;T;T;D	0.87966	-2.32;-1.24;-2.32;-2.32;-2.32;-2.32;-1.24;-1.24;-2.32;-2.32;-1.24;-2.32;-1.24;-1.24;-2.32	4.87	4.87	0.63330	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000184	D	0.94994	0.8380	H	0.97131	3.945	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.999;0.988;0.998;0.998;0.995;0.994;0.973	D	0.95249	0.8358	10	0.87932	D	0	.	8.6997	0.34318	0.1705:0.0:0.8295:0.0	.	609;620;620;609;609;620;609	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3;O94856-2	NFASC_HUMAN;.;.;.;.;.;.	M	609;609;609;609;609;609;620;620;620;609;609;603;609;620;620;596	ENSP00000356140:V609M;ENSP00000356139:V609M;ENSP00000356138:V609M;ENSP00000342128:V609M;ENSP00000344786:V609M;ENSP00000343509:V609M;ENSP00000438614:V620M;ENSP00000353154:V620M;ENSP00000356137:V609M;ENSP00000384875:V609M;ENSP00000385676:V603M;ENSP00000385637:V609M;ENSP00000384061:V620M;ENSP00000425908:V620M;ENSP00000415031:V596M	ENSP00000295776:V620M	V	+	1	0	NFASC	203212540	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	6.728000	0.74769	2.258000	0.74832	0.561000	0.74099	GTG	NFASC	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000163531		0.657	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	-	0	26	0	G	NM_001005388		204945917	1	tier1	rs113197466	no_errors	ENST00000367172	ensembl	human	known	74_37	missense	39.02	25	16	SNP	0.991	A	A	204945917	G	A	204945917	3	1	158	1	0	0	0	0	1	0	0	0	10398	1145	40	1	1934	1	NFASC	1	204945917	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	507095	204945917	44304704	17	40090											
FLVCR1	28982	genome.wustl.edu	37	chr1	213037120	213037120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttagtacccaacacacaGaatgacacaaatctcctggc	14	9	6	12	0	1	2	0	1	1	1	2	2	1	2	2	1	2	2	2	1	5	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:213037120G>T	ENST00000366971.4	+	2	990	c.792G>T	c.(790-792)caG>caT	p.Q264H		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	264					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)		CCAACACACAGAATGACACAA	0.368																																					Esophageal Squamous(199;2235 2952 19233 26256)												0													161	148	153					1																	213037120		2203	4300	6503	SO:0001583	missense	0			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.792G>T	1.37:g.213037120G>T	ENSP00000355938:p.Gln264His		Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Q264H	ENST00000366971.4	37	c.792	CCDS1510.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.341|9.341	1.063138|1.063138	0.19987|0.19987	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000366971|ENST00000419102	T|.	0.57595|.	0.39|.	5.17|5.17	4.26|4.26	0.50523|0.50523	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	1.293790|.	0.04998|.	N|.	0.468517|.	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.01874|0.01874	-0.695|-0.695	0.22378|0.22378	N|N	0.999156|0.999156	P|.	0.49253|.	0.921|.	P|.	0.52109|.	0.69|.	T|T	0.22277|0.22277	-1.0221|-1.0221	10|5	0.36615|.	T|.	0.2|.	-23.1239|-23.1239	5.6852|5.6852	0.17799|0.17799	0.0772:0.1366:0.6453:0.1409|0.0772:0.1366:0.6453:0.1409	.|.	264|.	Q9Y5Y0|.	FLVC1_HUMAN|.	H|I	264|110	ENSP00000355938:Q264H|.	ENSP00000355938:Q264H|.	Q|R	+|+	3|2	2|0	FLVCR1|FLVCR1	211103743|211103743	0.255000|0.255000	0.24002|0.24002	0.976000|0.976000	0.42696|0.42696	0.821000|0.821000	0.46438|0.46438	0.419000|0.419000	0.21247|0.21247	1.316000|1.316000	0.45131|0.45131	0.557000|0.557000	0.71058|0.71058	CAG|AGA	FLVCR1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000162769		0.368	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR1	HGNC	protein_coding	OTTHUMT00000089678.2	-	0	58	0	G	NM_014053		213037120	1	tier1	-	no_errors	ENST00000366971	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.362	T	T	213037120	G	T	213037120	3	4	158	1	0	0	0	0	1	0	0	0	5967	933	33	3	798	3	FLVCR1	1	213037120	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	8091203	213037120	36213501	18	40091											
MTR	4548	genome.wustl.edu	37	chr1	236959022	236959022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtcacccgcgctccaaGacctgtcgcaacccggtaac	10	6	8	17	4	1	1	1	0	0	1	3	1	2	1	4	1	2	3	4	1	3	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:236959022G>T	ENST00000366577.5	+	1	413	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	MTR_ENST00000418145.2_Missense_Mutation_p.K134N|MTR_ENST00000535889.1_Missense_Mutation_p.D7Y	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	7					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)	CGCGCTCCAAGACCTGTCGCA	0.622																																																	0													101	78	86					1																	236959022		2203	4300	6503	SO:0001583	missense	0			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.19G>T	1.37:g.236959022G>T	ENSP00000355536:p.Asp7Tyr		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.D7Y	ENST00000366577.5	37	c.19	CCDS1614.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.21|16.21	3.059740|3.059740	0.55325|0.55325	.|.	.|.	ENSG00000116984|ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889|ENST00000418145	T;T|.	0.68331|.	-0.31;-0.32|.	3.06|3.06	2.12|2.12	0.27331|0.27331	.|.	2.005360|.	0.02048|.	N|.	0.049859|.	T|T	0.35248|0.35248	0.0925|0.0925	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.29731|0.29731	-1.0002|-1.0002	10|6	0.72032|0.87932	D|D	0.01|0	1.4456|1.4456	8.1993|8.1993	0.31415|0.31415	0.0:0.2468:0.7532:0.0|0.0:0.2468:0.7532:0.0	.|.	7;7;7|.	B7ZLW8;B7ZLW7;Q99707|.	.;.;METH_HUMAN|.	Y|N	7|134	ENSP00000355536:D7Y;ENSP00000441845:D7Y|.	ENSP00000355536:D7Y|ENSP00000402255:K134N	D|K	+|+	1|3	0|2	MTR|MTR	235025645|235025645	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.981000|0.981000	0.71138|0.71138	0.796000|0.796000	0.26986|0.26986	0.817000|0.817000	0.34445|0.34445	0.545000|0.545000	0.68477|0.68477	GAC|AAG	MTR	-	NULL	ENSG00000116984		0.622	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0	96	0	G	NM_000254		236959022	1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	missense	40.00	51	34	SNP	0.001	T	T	236959022	G	T	236959022	3	4	158	1	0	0	0	0	1	0	0	0	9996	942	33	3	21	3	MTR	1	236959022	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	23921902	236959022	12291599	19	40092											
OR2M4	26245	genome.wustl.edu	37	chr1	248402987	248402987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtcggactctactacGgtgctgctatgttcatgtac	6	14	11	10	2	2	0	1	0	1	0	3	1	2	1	0	3	5	4	0	3	4	5	rs553128658		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:248402987G>T	ENST00000306687.1	+	1	757	c.757G>T	c.(757-759)Ggt>Tgt	p.G253C		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	253					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.G253R(1)		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)			ACTCTACTACGGTGCTGCTAT	0.537																																																	1	Substitution - Missense(1)	lung(1)											122	108	113					1																	248402987		2203	4300	6503	SO:0001583	missense	0			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.757G>T	1.37:g.248402987G>T	ENSP00000306688:p.Gly253Cys		Q15611|Q8NG82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G253C	ENST00000306687.1	37	c.757	CCDS31108.1	1	.	.	.	.	.	.	.	.	.	.	g	16.13	3.036999	0.54896	.	.	ENSG00000171180	ENST00000306687	T	0.38722	1.12	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000789	T	0.66616	0.2807	M	0.86864	2.845	0.09310	N	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.60125	-0.7324	10	0.87932	D	0	.	12.5107	0.56003	0.0:0.0:1.0:0.0	.	253	Q96R27	OR2M4_HUMAN	C	253	ENSP00000306688:G253C	ENSP00000306688:G253C	G	+	1	0	OR2M4	246469610	0.170000	0.23016	0.724000	0.30704	0.961000	0.63080	2.124000	0.42006	1.840000	0.53500	0.543000	0.68304	GGT	OR2M4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171180		0.537	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M4	HGNC	protein_coding	OTTHUMT00000097352.1		0	43	0	G	NM_017504		248402987	1			no_errors	ENST00000306687	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.373	T	T	248402987	G	T	248402987	3	4	158	1	0	0	0	0	1	0	0	0	11051	1116	39	2	759	2	OR2M4	1	248402987	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	11443965	248402987	847634	20	40093											
OR2T10	127069	genome.wustl.edu	37	chr1	248756465	248756465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggagcatgatgacacagCacaagtacatgaaaatcttg	16	8	9	8	0	2	3	1	3	1	0	2	4	2	4	0	1	3	3	0	1	4	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr1:248756465C>A	ENST00000330500.2	-	1	635	c.605G>T	c.(604-606)tGc>tTc	p.C202F	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	202						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)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			GATGACACAGCACAAGTACAT	0.443																																																	0													82	85	84					1																	248756465		2050	4239	6289	SO:0001583	missense	0				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.605G>T	1.37:g.248756465C>A	ENSP00000329210:p.Cys202Phe		B2RNK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C202F	ENST00000330500.2	37	c.605	CCDS31121.1	1	.	.	.	.	.	.	.	.	.	.	.	5.805	0.332774	0.11013	.	.	ENSG00000184022	ENST00000330500	T	0.00027	8.93	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.26162	0.8	0.09310	N	1	D	0.67145	0.996	D	0.70487	0.969	T	0.58261	-0.7667	9	0.72032	D	0.01	.	7.4839	0.27421	0.2578:0.7422:0.0:0.0	.	202	Q8NGZ9	O2T10_HUMAN	F	202	ENSP00000329210:C202F	ENSP00000329210:C202F	C	-	2	0	OR2T10	246823088	0.000000	0.05858	0.133000	0.22050	0.239000	0.25481	-0.447000	0.06828	1.123000	0.41961	0.447000	0.29281	TGC	OR2T10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184022		0.443	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1		0	35	0	C	NM_001004693		248756465	-1			no_errors	ENST00000330500	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.005	A	A	248756465	C	A	248756465	3	1	158	1	0	0	0	0	1	0	0	0	11056	710	25	3	336	3	OR2T10	1	248756465	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	353478	248756465	494156	21	40094											
GTF3C2	2976	genome.wustl.edu	37	chr2	27564940	27564940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaaaagtcttcatcccGtggagcaccatccacctctt	12	9	7	13	1	3	1	1	0	2	1	5	3	5	2	4	1	1	1	4	1	3	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:27564940G>A	ENST00000359541.2	-	4	1159	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000587586.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.R244W|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000589853.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	244					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)					TCTTCATCCCGTGGAGCACCA	0.577																																																	0													84	74	77					2																	27564940		2203	4300	6503	SO:0001583	missense	0			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.730C>T	2.37:g.27564940G>A	ENSP00000352536:p.Arg244Trp		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R244W	ENST00000359541.2	37	c.730	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062804	0.36373	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.73681	-0.77;-0.77	5.24	4.33	0.51752	.	1.008970	0.07948	N	0.980405	T	0.73156	0.3551	L	0.27053	0.805	0.09310	N	1	D;P;D	0.69078	0.997;0.926;0.997	P;B;P	0.55667	0.781;0.306;0.681	T	0.60156	-0.7318	10	0.72032	D	0.01	0.0246	7.1899	0.25821	0.0913:0.1747:0.734:0.0	.	244;244;244	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	W	244	ENSP00000352536:R244W;ENSP00000264720:R244W	ENSP00000264720:R244W	R	-	1	2	GTF3C2	27418444	0.080000	0.21391	0.003000	0.11579	0.627000	0.37826	2.083000	0.41615	1.176000	0.42840	0.460000	0.39030	CGG	GTF3C2	-	NULL	ENSG00000115207		0.577	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	-	0	92	0	G			27564940	-1	tier1	-	no_errors	ENST00000264720	ensembl	human	known	74_37	missense	24.77	81	27	SNP	0.004	A	A	27564940	G	A	27564940	3	1	158	1	0	0	0	0	1	0	0	0	6900	1144	40	1	2069	1	GTF3C2	2	27564940	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09		27564940	215634433	22	40095											
EFEMP1	2202	genome.wustl.edu	37	chr2	56103786	56103786	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagcctgtcactgcttagCtcatatccttgattgcactg	7	15	8	11	0	2	2	2	2	0	0	3	2	3	2	2	0	4	3	2	0	2	5			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:56103786C>G	ENST00000394555.2	-	7	1287	c.852G>C	c.(850-852)gaG>gaC	p.E284D	EFEMP1_ENST00000355426.3_Missense_Mutation_p.E284D|EFEMP1_ENST00000394554.1_Missense_Mutation_p.E284D|EFEMP1_ENST00000424836.2_Intron	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	284	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CACTGCTTAGCTCATATCCTT	0.383																																					GBM(92;934 1319 7714 28760 40110)												0													113	99	104					2																	56103786		2203	4300	6503	SO:0001583	missense	0			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.852G>C	2.37:g.56103786C>G	ENSP00000378058:p.Glu284Asp		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.E284D	ENST00000394555.2	37	c.852	CCDS1857.1	2	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595913	0.46318	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000355426	D;D;D	0.94828	-3.53;-3.53;-3.53	5.73	0.771	0.18504	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000005	D	0.95127	0.8421	L	0.48877	1.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92421	0.5945	10	0.48119	T	0.1	.	12.138	0.53982	0.0:0.6206:0.0:0.3794	.	284	Q12805	FBLN3_HUMAN	D	284;284;140;284	ENSP00000378058:E284D;ENSP00000378057:E284D;ENSP00000347596:E284D	ENSP00000347596:E284D	E	-	3	2	EFEMP1	55957290	0.995000	0.38212	0.888000	0.34837	0.948000	0.59901	0.509000	0.22707	-0.397000	0.07691	-0.813000	0.03139	GAG	EFEMP1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000115380		0.383	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	HGNC	protein_coding	OTTHUMT00000251491.2	-	0	69	0	C			56103786	-1	tier1	-	no_errors	ENST00000355426	ensembl	human	known	74_37	missense	25.96	77	27	SNP	0.996	G	G	56103786	C	G	56103786	3	3	158	1	0	0	0	0	1	0	0	0	4955	796	28	5	649	5	EFEMP1	2	56103786	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	28538846	56103786	187095587	23	40096											
ST6GAL2	84620	genome.wustl.edu	37	chr2	107449090	107449090	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	acgtctttatacagtgaactGtcaatgaagtgatggctggg	11	12	12	6	1	2	3	1	3	1	0	2	3	2	3	0	2	2	1	0	2	5	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:107449090G>T	ENST00000409382.3	-	4	1684	c.1074C>A	c.(1072-1074)gaC>gaA	p.D358E	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.D358E|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.D358E|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	358					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						ACAGTGAACTGTCAATGAAGT	0.433																																																	0													91	91	91					2																	107449090		2203	4300	6503	SO:0001583	missense	0			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.1074C>A	2.37:g.107449090G>T	ENSP00000386942:p.Asp358Glu		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.D358E	ENST00000409382.3	37	c.1074	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076781	0.36662	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	D;D;D	0.92348	-3.02;-3.02;-3.02	6.17	2.37	0.29283	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.260786	0.47852	N	0.000216	D	0.84687	0.5527	L	0.39085	1.19	0.42420	D	0.992631	B;B	0.13145	0.007;0.004	B;B	0.17979	0.009;0.02	T	0.73263	-0.4038	10	0.18276	T	0.48	-47.6285	7.2183	0.25971	0.1934:0.0:0.6867:0.1199	.	358;358	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	E	358	ENSP00000355273:D358E;ENSP00000386942:D358E;ENSP00000387332:D358E	ENSP00000355273:D358E	D	-	3	2	ST6GAL2	106815522	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	0.237000	0.17985	0.482000	0.27582	0.655000	0.94253	GAC	ST6GAL2	-	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000144057		0.433	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	-	0	78	0	G	NM_032528		107449090	-1	tier1	-	no_errors	ENST00000361686	ensembl	human	known	74_37	missense	53.23	58	66	SNP	0.999	T	T	107449090	G	T	107449090	3	4	158	1	0	0	0	0	1	0	0	0	15269	1368	48	3	614	3	ST6GAL2	2	107449090	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	51345304	107449090	135750283	24	40097											
FAP	2191	genome.wustl.edu	37	chr2	163074549	163074549	+	Missense_Mutation	SNP	A	A	G	1	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	ttgttcatcgccataataggAataggcaataactggtatat	14	13	8	6	1	1	0	1	0	0	0	2	1	1	1	1	3	1	3	1	3	8	8			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:163074549A>G	ENST00000188790.4	-	9	916	c.709T>C	c.(709-711)Tcc>Ccc	p.S237P	FAP_ENST00000443424.1_Missense_Mutation_p.S212P	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						CCATAATAGGAATAGGCAATA	0.353																																																	0													114	116	115					2																	163074549		2203	4300	6503	SO:0001583	missense	0			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.709T>C	2.37:g.163074549A>G	ENSP00000188790:p.Ser237Pro			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.S237P	ENST00000188790.4	37	c.709	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118687	0.56505	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.95821	-3.82;1.59	5.74	5.74	0.90152	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.052422	0.85682	D	0.000000	D	0.93135	0.7814	N	0.25332	0.735	0.58432	D	0.999997	B;D;P	0.57899	0.015;0.981;0.95	B;P;P	0.53809	0.048;0.735;0.735	D	0.90677	0.4602	10	0.02654	T	1	-20.8578	16.3426	0.83092	1.0:0.0:0.0:0.0	.	212;237;237	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	P	237;212	ENSP00000188790:S237P;ENSP00000411391:S212P	ENSP00000188790:S237P	S	-	1	0	FAP	162782795	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.352000	0.66028	2.317000	0.78254	0.460000	0.39030	TCC	FAP	-	pfam_Peptidase_S9B	ENSG00000078098		0.353	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	-	0	31	0	A			163074549	-1	tier1	-	no_errors	ENST00000188790	ensembl	human	known	74_37	missense	46.27	36	31	SNP	1.000	G	G	163074549	A	G	163074549	3	3	158	1	0	0	0	0	1	0	0	0	5695	246	9	4	1645	4	FAP	2	163074549	Missense_Mutation	SNP	A	TCGA-V5-AASV-01A-11D-A387-09	55625459	163074549	80124824	25	40098											
TTN	7273	genome.wustl.edu	37	chr2	179592555	179592555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtagaatcaggtatggcttGctgtcgcccaggtttcacta	8	13	11	9	1	2	1	2	0	0	1	3	1	2	1	1	3	1	5	1	3	4	5			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:179592555G>T	ENST00000591111.1	-	66	19023	c.18799C>A	c.(18799-18801)Caa>Aaa	p.Q6267K	TTN_ENST00000342992.6_Missense_Mutation_p.Q5340K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.Q6584K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13044	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATGGCTTGCTGTCGCCCA	0.353																																																	0													74	73	73					2																	179592555		1839	4086	5925	SO:0001583	missense	0			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.18799C>A	2.37:g.179592555G>T	ENSP00000465570:p.Gln6267Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q5340K	ENST00000591111.1	37	c.16018		2	.	.	.	.	.	.	.	.	.	.	G	9.870	1.198734	0.22121	.	.	ENSG00000155657	ENST00000342992	T	0.65549	-0.16	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45296	0.1335	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.15052	0.012	T	0.41070	-0.9529	9	0.87932	D	0	.	15.2218	0.73316	0.0:0.0:0.8595:0.1405	.	6267	Q8WZ42	TITIN_HUMAN	K	5340	ENSP00000343764:Q5340K	ENSP00000343764:Q5340K	Q	-	1	0	TTN	179300800	1.000000	0.71417	0.993000	0.49108	0.946000	0.59487	3.075000	0.50073	2.840000	0.97914	0.655000	0.94253	CAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.353	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	51	0	G	NM_133378		179592555	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.26	90	5	SNP	0.998	T	T	179592555	G	T	179592555	3	4	158	1	0	0	0	0	1	0	0	0	16784	1328	46	3	84959	3	TTN	2	179592555	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	16518006	179592555	63606818	26	40099											
BARD1	580	genome.wustl.edu	37	chr2	215646207	215646208	+	Frame_Shift_Del	DEL	TT	TT	-																															tcctgcatcattaaacaaacTtttcctaggtttatcttctt																								rs554652893		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:215646207_215646208delTT	ENST00000260947.4	-	4	524_525	c.390_391delAA	c.(388-393)aaaagtfs	p.S131fs	BARD1_ENST00000449967.2_5'UTR|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	131					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTAAACAAACTTTTCCTAGGTT	0.337									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0																																										SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.390_391delAA	2.37:g.215646209_215646210delTT	ENSP00000260947:p.Ser131fs		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.S131fs	ENST00000260947.4	37	c.391_390	CCDS2397.1	2																																																																																			BARD1	-	NULL	ENSG00000138376		0.337	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1		0	30	0	TT	NM_000465		215646208	-1	tier1		no_errors	ENST00000260947	ensembl	human	known	74_37	frame_shift_del	54.00	23	27	DEL	0.000:0.001	-	-	215646208	TT	-	215646207	7	5	158	1	0	1	0	1	0	0	0	0	1313	1609	56	0	1974	0	BARD1	2	215646207	Frame_Shift_Del	DEL	TT	TCGA-V5-AASV-01A-11D-A387-09	36053652	215646207	27553166	27	40100											
ZFAND2B	130617	genome.wustl.edu	37	chr2	220071745	220071745	+	Silent	SNP	G	G	A	0	0	1	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	ctcggcgctcactgttcggaGccgagctgtcagcgcttggg	4	9	15	13	5	2	0	2	0	0	0	4	2	2	1	1	3	3	4	1	3	0	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:220071745G>A	ENST00000289528.5	+	1	231	c.36G>A	c.(34-36)gaG>gaA	p.E12E	ZFAND2B_ENST00000444522.2_Silent_p.E12E|ZFAND2B_ENST00000409412.1_Silent_p.E12E|ZFAND2B_ENST00000409097.1_Silent_p.E12E|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000409594.1_Silent_p.E12E|ZFAND2B_ENST00000409319.1_Silent_p.E12E|ZFAND2B_ENST00000409206.1_Silent_p.E12E|ZFAND2B_ENST00000409217.1_Silent_p.E12E|ZFAND2B_ENST00000409336.1_Silent_p.E12E	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	12						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGTTCGGAGCCGAGCTGTC	0.687																																																	0													15	16	16					2																	220071745		2199	4293	6492	SO:0001819	synonymous_variant	0			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.36G>A	2.37:g.220071745G>A			Q8NB98	Silent	SNP	pfam_Znf_AN1,smart_Znf_AN1,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Znf_AN1	p.E12	ENST00000289528.5	37	c.36	CCDS2435.1	2																																																																																			ZFAND2B	-	pfam_Znf_AN1,smart_Znf_AN1	ENSG00000158552		0.687	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	ZFAND2B	HGNC	protein_coding	OTTHUMT00000256824.2	-	0	116	0	G	NM_138802		220071745	1	tier1	-	no_errors	ENST00000289528	ensembl	human	known	74_37	silent	42.97	73	55	SNP	1.000	A	A	220071745	G	A	220071745	2	1	158	1	0	0	0	0	0	0	0	1	17676	962	34	3		3	ZFAND2B	2	220071745	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	4425538	220071745	23127628	28	40101											
OBSL1	23363	genome.wustl.edu	37	chr2	220432086	220432087	+	Frame_Shift_Del	DEL	CA	CA	-																															cggtagtcaccctcggagggCacacagtcgcccggcacctc																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:220432086_220432087delCA	ENST00000404537.1	-	4	1801_1802	c.1745_1746delTG	c.(1744-1746)gtgfs	p.V582fs	OBSL1_ENST00000289656.3_Frame_Shift_Del_p.V169fs|OBSL1_ENST00000603926.1_Frame_Shift_Del_p.V582fs|OBSL1_ENST00000265318.4_Frame_Shift_Del_p.V582fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.V582fs|OBSL1_ENST00000373876.1_Frame_Shift_Del_p.V582fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	582	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		CCTCGGAGGGCACACAGTCGCC	0.614																																																	0																																										SO:0001589	frameshift_variant	0			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.1745_1746delTG	2.37:g.220432090_220432091delCA	ENSP00000385636:p.Val582fs		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V582fs	ENST00000404537.1	37	c.1746_1745	CCDS46520.1	2																																																																																			OBSL1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000124006		0.614	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1		0	31	0	CA			220432087	-1	tier1		no_errors	ENST00000404537	ensembl	human	known	74_37	frame_shift_del	21.43	33	9	DEL	0.998:1.000	-	-	220432087	CA	-	220432086	7	5	158	1	0	1	0	1	0	0	0	0	10852	697	25	0	4168	0	OBSL1	2	220432086	Frame_Shift_Del	DEL	CA	TCGA-V5-AASV-01A-11D-A387-09	360341	220432086	22767287	29	40102											
UGT1A5	54579	genome.wustl.edu	37	chr2	234622316	234622316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctacctttgccatgctGtttctgctccttatgcaagc	5	16	7	13	0	1	0	0	0	1	0	3	0	3	0	4	0	6	4	4	0	3	4	rs200994534	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:234622316G>T	ENST00000373414.3	+	1	679	c.679G>T	c.(679-681)Gtt>Ttt	p.V227F	UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.V227F			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	227						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)		TTGCCATGCTGTTTCTGCTCC	0.498													G|||	2	0.000399361	0	0	5008	,	,		22331	0		0.002	False		,,,				2504	0																0													254	235	241					2																	234622316		2203	4300	6503	SO:0001583	missense	0			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.679G>T	2.37:g.234622316G>T	ENSP00000362513:p.Val227Phe		B8K294	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V227F	ENST00000373414.3	37	c.679	CCDS33404.1	2	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.893015	0.00522	.	.	ENSG00000240224	ENST00000373414	T	0.58210	0.35	4.87	-9.74	0.00509	.	2.230830	0.01847	N	0.035666	T	0.16896	0.0406	N	0.02368	-0.58	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.24693	-1.0153	10	0.02654	T	1	.	1.8859	0.03237	0.4398:0.1596:0.2484:0.1521	.	227;227	Q5DSZ9;P35504	.;UD15_HUMAN	F	227	ENSP00000362513:V227F	ENSP00000362513:V227F	V	+	1	0	UGT1A5	234287055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-10.072000	0.00008	-3.495000	0.00152	-1.130000	0.01982	GTT	UGT1A5	-	pfam_UDP_glucos_trans	ENSG00000240224		0.498	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A5	HGNC	protein_coding	OTTHUMT00000130985.1	-	0	145	0	G	NM_019078		234622316	1	tier1	rs200994534	no_errors	ENST00000373414	ensembl	human	known	74_37	missense	54.79	85	103	SNP	0.000	T	T	234622316	G	T	234622316	3	4	158	1	0	0	0	0	1	0	0	0	16997	1377	48	3	681	3	UGT1A5	2	234622316	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	14190230	234622316	8577057	30	40103											
MLPH	79083	genome.wustl.edu	37	chr2	238419374	238419374	+	Frame_Shift_Del	DEL	A	A	-																															aatgtggcctcttcacctgcAaaagctgtggccgcgtccac																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:238419374delA	ENST00000264605.3	+	3	562	c.268delA	c.(268-270)aaafs	p.K90fs	MLPH_ENST00000409373.1_Frame_Shift_Del_p.K90fs|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Frame_Shift_Del_p.K90fs|MLPH_ENST00000338530.4_Frame_Shift_Del_p.K90fs|MLPH_ENST00000410032.1_Frame_Shift_Del_p.K90fs	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	90	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CTTCACCTGCAAAAGCTGTGG	0.602																																																	0													46	47	47					2																	238419374		2203	4300	6503	SO:0001589	frameshift_variant	0			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.268delA	2.37:g.238419374delA	ENSP00000264605:p.Lys90fs		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Frame_Shift_Del	DEL	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.S91fs	ENST00000264605.3	37	c.268	CCDS2518.1	2																																																																																			MLPH	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000115648		0.602	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2		0	40	0	A	NM_024101		238419374	1	tier1		no_errors	ENST00000264605	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	0.940	-	-	238419374	A	-	238419374	7	5	158	1	0	1	0	1	0	0	0	0	9671	131	5	0	274	0	MLPH	2	238419374	Frame_Shift_Del	DEL	A	TCGA-V5-AASV-01A-11D-A387-09	3797058	238419374	4779999	31	40104											
RAMP1	10267	genome.wustl.edu	37	chr2	238785925	238785925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actacggtgccctcctccggGagctctgcctcacccagttc	5	9	9	18	2	2	0	1	0	1	0	5	1	4	1	5	2	4	2	5	2	1	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:238785925G>A	ENST00000254661.4	+	2	244	c.112G>A	c.(112-114)Gag>Aag	p.E38K	RAMP1_ENST00000409726.1_Missense_Mutation_p.E16K|RAMP1_ENST00000403885.1_Missense_Mutation_p.E16K|RAMP1_ENST00000404910.2_Missense_Mutation_p.E16K	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	38					angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|intracellular protein transport (GO:0006886)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein glycosylation (GO:0060050)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcitonin receptor activity (GO:0004948)|calcitonin receptor binding (GO:0031716)|coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|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;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	CCTCCTCCGGGAGCTCTGCCT	0.627																																					NSCLC(177;211 2889 43936 50767)												0													96	89	91					2																	238785925		2203	4300	6503	SO:0001583	missense	0			AJ001014	CCDS2522.1	2q36-q37.1	2008-02-05	2006-11-21		ENSG00000132329	ENSG00000132329		"Receptor (G protein-coupled) activity modifying proteins"	9843	protein-coding gene	gene with protein product		605153	"receptor activity modifying protein 1", "receptor (calcitonin) activity modifying protein 1"				Standard	NM_005855		Approved		uc002vxj.3	O60894	OTTHUMG00000133337	ENST00000254661.4:c.112G>A	2.37:g.238785925G>A	ENSP00000254661:p.Glu38Lys		Q6FGS5	Missense_Mutation	SNP	pfam_RAMP	p.E38K	ENST00000254661.4	37	c.112	CCDS2522.1	2	.	.	.	.	.	.	.	.	.	.	G	6.634	0.485403	0.12641	.	.	ENSG00000132329	ENST00000404910;ENST00000254661;ENST00000409726;ENST00000403885	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.84	3.06	0.35304	.	0.229422	0.43110	N	0.000601	T	0.30854	0.0778	L	0.37561	1.115	0.18873	N	0.999984	B	0.16396	0.017	B	0.22386	0.039	T	0.22173	-1.0224	10	0.48119	T	0.1	-30.0564	7.4644	0.27314	0.1965:0.0:0.8035:0.0	.	38	O60894	RAMP1_HUMAN	K	16;38;16;16	ENSP00000384688:E16K;ENSP00000254661:E38K;ENSP00000386720:E16K;ENSP00000386046:E16K	ENSP00000254661:E38K	E	+	1	0	RAMP1	238450664	0.016000	0.18221	0.037000	0.18230	0.004000	0.04260	0.503000	0.22610	0.652000	0.30806	-0.254000	0.11334	GAG	RAMP1	-	pfam_RAMP	ENSG00000132329		0.627	RAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAMP1	HGNC	protein_coding	OTTHUMT00000257166.2	-	0	52	0	G	NM_005855		238785925	1	tier1	-	no_errors	ENST00000254661	ensembl	human	known	74_37	missense	55.56	32	40	SNP	0.048	A	A	238785925	G	A	238785925	3	1	158	1	0	0	0	0	1	0	0	0	13066	1175	41	3	118	3	RAMP1	2	238785925	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	366551	238785925	4413448	32	40105											
KLHL30	377007	genome.wustl.edu	37	chr2	239049972	239049972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctgctgcaggtacagccgGagcaaagccgactcgaggcc	10	4	13	14	3	0	0	0	0	0	0	1	3	0	1	4	3	6	4	4	3	2	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr2:239049972G>A	ENST00000409223.1	+	2	684	c.577G>A	c.(577-579)Gag>Aag	p.E193K	KLHL30_ENST00000305959.4_Missense_Mutation_p.E175K			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	193	BACK.									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)		GGTACAGCCGGAGCAAAGCCG	0.677																																																	0													11	15	14					2																	239049972		2087	4172	6259	SO:0001583	missense	0				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.577G>A	2.37:g.239049972G>A	ENSP00000386389:p.Glu193Lys		Q6ZUS1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E193K	ENST00000409223.1	37	c.577	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068807	0.76301	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	D;D	0.93547	-3.24;-3.24	5.82	5.82	0.92795	BTB/Kelch-associated (2);	0.053821	0.64402	D	0.000001	D	0.97448	0.9165	M	0.91561	3.22	0.51233	D	0.999914	D	0.71674	0.998	D	0.71870	0.975	D	0.97907	1.0306	10	0.87932	D	0	.	18.8769	0.92341	0.0:0.0:1.0:0.0	.	193	Q0D2K2	KLH30_HUMAN	K	193;175	ENSP00000386389:E193K;ENSP00000302386:E175K	ENSP00000302386:E175K	E	+	1	0	KLHL30	238714711	1.000000	0.71417	0.506000	0.27664	0.068000	0.16541	7.690000	0.84178	2.757000	0.94681	0.655000	0.94253	GAG	KLHL30	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000168427		0.677	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1	-	0	22	0	G	NM_198582		239049972	1	tier1	-	no_errors	ENST00000409223	ensembl	human	known	74_37	missense	74.00	13	37	SNP	1.000	A	A	239049972	G	A	239049972	3	1	158	1	0	0	0	0	1	0	0	0	8411	1175	41	3	579	3	KLHL30	2	239049972	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	264047	239049972	4149401	33	40106											
CNTN6	27255	genome.wustl.edu	37	chr3	1414531	1414531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctgcaggaatctgttGgggatttgatgataaggaat	10	14	13	4	0	3	2	0	2	3	0	3	5	3	5	0	4	1	2	0	4	3	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:1414531G>C	ENST00000446702.2	+	14	2305	c.1678G>C	c.(1678-1680)Ggg>Cgg	p.G560R	CNTN6_ENST00000539053.1_Missense_Mutation_p.G488R|CNTN6_ENST00000350110.2_Missense_Mutation_p.G560R			Q9UQ52	CNTN6_HUMAN	contactin 6	560	Ig-like C2-type 6.				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)		GGAATCTGTTGGGGATTTGAT	0.358																																																	0													147	155	152					3																	1414531		2203	4300	6503	SO:0001583	missense	0			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.1678G>C	3.37:g.1414531G>C	ENSP00000407822:p.Gly560Arg		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G560R	ENST00000446702.2	37	c.1678	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578629	0.86645	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.40225	1.04;1.04;1.04	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	T	0.73753	0.3627	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79500	-0.1778	10	0.87932	D	0	.	19.7818	0.96418	0.0:0.0:1.0:0.0	.	560	Q9UQ52	CNTN6_HUMAN	R	560;488;560	ENSP00000407822:G560R;ENSP00000442791:G488R;ENSP00000341882:G560R	ENSP00000341882:G560R	G	+	1	0	CNTN6	1389531	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.513000	0.81739	2.736000	0.93811	0.655000	0.94253	GGG	CNTN6	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134115		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	-	0	105	0	G	NM_014461		1414531	1	tier1	-	no_errors	ENST00000350110	ensembl	human	known	74_37	missense	31.91	64	30	SNP	1.000	C	C	1414531	G	C	1414531	3	2	158	1	0	0	0	0	1	0	0	0	3652	1348	47	5	1728	5	CNTN6	3	1414531	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09		1414531	196607899	34	40107											
SETMAR	6419	genome.wustl.edu	37	chr3	4357930	4357930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagacaaaaagcaaattcGagcaattttcttattcgagt	15	13	7	6	2	1	1	0	0	1	1	3	3	1	1	0	0	2	3	0	0	6	6	rs369900694		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:4357930G>T	ENST00000358065.4	+	3	1122	c.1055G>T	c.(1054-1056)cGa>cTa	p.R352L	SETMAR_ENST00000425863.1_Missense_Mutation_p.R213L|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	352	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		aagcaaattcgagcaattttc	0.338								Chromatin Structure																																									0													2	1	1					3																	4357930		1073	1718	2791	SO:0001583	missense	0			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1055G>T	3.37:g.4357930G>T	ENSP00000373354:p.Arg352Leu		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.R352L	ENST00000358065.4	37	c.1055	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321855	0.41096	.	.	ENSG00000170364	ENST00000358065;ENST00000425863;ENST00000358950	T;T;T	0.45276	0.9;0.9;0.9	0.235	0.235	0.15431	.	.	.	.	.	T	0.49253	0.1546	L	0.55213	1.73	0.22719	N	0.998816	D;D;P;P	0.63880	0.993;0.975;0.686;0.94	P;P;B;P	0.58620	0.842;0.764;0.25;0.599	T	0.35895	-0.9770	8	0.66056	D	0.02	.	.	.	.	.	96;213;339;97	B4DND2;E7EN68;Q53H47;Q96H41	.;.;SETMR_HUMAN;.	L	352;213;116	ENSP00000373354:R352L;ENSP00000403145:R213L;ENSP00000369673:R116L	ENSP00000373354:R352L	R	+	2	0	SETMAR	4332930	0.984000	0.35163	0.798000	0.32154	0.795000	0.44927	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	CGA	SETMAR	-	NULL	ENSG00000170364		0.338	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	-	0	21	0	G	NM_006515		4357930	1	tier1	-	no_errors	ENST00000358065	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.853	T	T	4357930	G	T	4357930	3	4	158	1	0	0	0	0	1	0	0	0	14185	1058	37	2	1065	2	SETMAR	3	4357930	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	2943399	4357930	193664500	35	40108											
GRM7	2917	genome.wustl.edu	37	chr3	6903375	6903375	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctactgcccaacgtgacGctgggcgcgcggatcctgga	8	6	13	14	5	0	1	0	1	0	0	1	3	1	3	3	3	4	1	3	3	3	1	rs555598605	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:6903375G>T	ENST00000357716.4	+	1	574	c.300G>T	c.(298-300)acG>acT	p.T100T	GRM7_ENST00000389336.4_Silent_p.T100T|GRM7_ENST00000402647.2_Silent_p.T100T|GRM7_ENST00000486284.1_Silent_p.T100T|GRM7_ENST00000403881.1_Silent_p.T100T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	100					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						CCAACGTGACGCTGGGCGCGC	0.597													G|||	5	0.000998403	0	0	5008	,	,		16604	0		0	False		,,,				2504	0.0051																0													48	41	43					3																	6903375		2203	4300	6503	SO:0001819	synonymous_variant	0			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.300G>T	3.37:g.6903375G>T			Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.T100	ENST00000357716.4	37	c.300	CCDS43042.1	3																																																																																			GRM7	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000196277		0.597	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	-	0	43	0	G	NM_000844		6903375	1	tier1	-	no_errors	ENST00000402647	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	T	T	6903375	G	T	6903375	2	4	158	1	0	0	0	0	0	0	0	1	6829	1074	38	2		2	GRM7	3	6903375	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	2545445	6903375	191119055	36	40109											
CRTAP	10491	genome.wustl.edu	37	chr3	33175722	33175722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccagaaggagctgtatGactttgctaaggaaaatata	15	10	9	7	0	0	2	0	1	0	1	1	4	1	4	1	2	2	3	1	2	7	5			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:33175722G>T	ENST00000320954.6	+	6	1216	c.1117G>T	c.(1117-1119)Gac>Tac	p.D373Y	CRTAP_ENST00000449224.1_Missense_Mutation_p.D330Y	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	373					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GGAGCTGTATGACTTTGCTAA	0.388																																																	0													164	149	154					3																	33175722		2203	4300	6503	SO:0001583	missense	0			AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"leprecan-like 3"	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.1117G>T	3.37:g.33175722G>T	ENSP00000323696:p.Asp373Tyr		B2RBL6	Missense_Mutation	SNP	NULL	p.D373Y	ENST00000320954.6	37	c.1117	CCDS2657.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246619	0.80024	.	.	ENSG00000170275	ENST00000320954;ENST00000539684;ENST00000449224	T;T	0.59083	0.44;0.29	4.96	4.96	0.65561	.	0.221317	0.45606	D	0.000341	T	0.53706	0.1813	N	0.14661	0.345	0.58432	D	0.999999	D;D	0.54964	0.969;0.969	P;P	0.54100	0.742;0.742	T	0.51996	-0.8634	10	0.24483	T	0.36	-9.7205	18.5767	0.91157	0.0:0.0:1.0:0.0	.	330;373	C9JP16;O75718	.;CRTAP_HUMAN	Y	373;360;330	ENSP00000323696:D373Y;ENSP00000409997:D330Y	ENSP00000323696:D373Y	D	+	1	0	CRTAP	33150726	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.069000	0.76755	2.469000	0.83416	0.462000	0.41574	GAC	CRTAP	-	NULL	ENSG00000170275		0.388	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAP	HGNC	protein_coding	OTTHUMT00000253246.3	-	0	81	0	G			33175722	1	tier1	-	no_errors	ENST00000320954	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	33175722	G	T	33175722	3	4	158	1	0	0	0	0	1	0	0	0	3905	1290	45	3	1139	3	CRTAP	3	33175722	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	26272347	33175722	164846708	37	40110											
KIF15	56992	genome.wustl.edu	37	chr3	44879865	44879865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgctgcagtctgcccaGgaagaactgaccaagaagga	12	5	14	10	0	1	3	0	1	1	2	1	5	1	5	2	3	4	3	2	3	4	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:44879865G>T	ENST00000326047.4	+	27	3419	c.3270G>T	c.(3268-3270)caG>caT	p.Q1090H	KIF15_ENST00000425755.1_Missense_Mutation_p.Q725H	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1090					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGTCTGCCCAGGAAGAACTGA	0.522																																																	0													54	58	56					3																	44879865		2203	4300	6503	SO:0001583	missense	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3270G>T	3.37:g.44879865G>T	ENSP00000324020:p.Gln1090His		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q1090H	ENST00000326047.4	37	c.3270	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045827	0.36085	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.53640	0.61;0.61	5.26	1.93	0.25924	.	0.000000	0.48767	D	0.000162	T	0.43964	0.1271	N	0.24115	0.695	0.35217	D	0.7757	D	0.76494	0.999	D	0.66497	0.944	T	0.49835	-0.8897	10	0.28530	T	0.3	.	4.9819	0.14170	0.2764:0.1715:0.5521:0.0	.	1090	Q9NS87	KIF15_HUMAN	H	1090;1089;725	ENSP00000324020:Q1090H;ENSP00000389982:Q725H	ENSP00000324020:Q1090H	Q	+	3	2	KIF15	44854869	1.000000	0.71417	0.969000	0.41365	0.520000	0.34377	1.417000	0.34770	0.558000	0.29135	-0.182000	0.12963	CAG	KIF15	-	NULL	ENSG00000163808		0.522	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	-	0	21	0	G			44879865	1	tier1	-	no_errors	ENST00000326047	ensembl	human	known	74_37	missense	30.95	29	13	SNP	0.998	T	T	44879865	G	T	44879865	3	4	158	1	0	0	0	0	1	0	0	0	8304	991	35	3	3376	3	KIF15	3	44879865	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	11704143	44879865	153142565	38	40111											
NBEAL2	23218	genome.wustl.edu	37	chr3	47045639	47045639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgtttcaacctgcgccGttcagcacttgagctcttct	5	12	10	14	4	4	1	2	1	2	0	4	1	4	1	2	1	4	4	2	1	1	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:47045639G>T	ENST00000450053.3	+	37	6133	c.5954G>T	c.(5953-5955)cGt>cTt	p.R1985L	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1801L|NBEAL2_ENST00000383740.2_Missense_Mutation_p.R264L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1985					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)		AACCTGCGCCGTTCAGCACTT	0.592																																																	0													168	179	175					3																	47045639		2094	4209	6303	SO:0001583	missense	0			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.5954G>T	3.37:g.47045639G>T	ENSP00000415034:p.Arg1985Leu		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1985L	ENST00000450053.3	37	c.5954	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.128020|5.128020	0.94473|0.94473	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053|ENST00000416683	T;T;T|.	0.59502|.	0.28;0.84;0.26|.	4.92|4.92	4.92|4.92	0.64577|0.64577	PH-BEACH domain (1);|.	0.117227|.	0.56097|.	D|.	0.000039|.	T|T	0.78419|0.78419	0.4280|0.4280	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.983|.	D;D|.	0.87578|.	0.998;0.924|.	T|T	0.80108|0.80108	-0.1520|-0.1520	10|5	0.72032|.	D|.	0.01|.	.|.	16.8698|16.8698	0.86038|0.86038	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1801;1985|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	L|F	1801;264;1985|1273	ENSP00000292309:R1801L;ENSP00000373246:R264L;ENSP00000415034:R1985L|.	ENSP00000292309:R1801L|.	R|V	+|+	2|1	0|0	NBEAL2|NBEAL2	47020643|47020643	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.960000|0.960000	0.62799|0.62799	9.657000|9.657000	0.98554|0.98554	2.573000|2.573000	0.86826|0.86826	0.561000|0.561000	0.74099|0.74099	CGT|GTT	NBEAL2	-	NULL	ENSG00000160796		0.592	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3		0	54	0	G	XM_291064		47045639	1			no_errors	ENST00000450053	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.999	T	T	47045639	G	T	47045639	3	4	158	1	0	0	0	0	1	0	0	0	10227	1145	40	2	6100	2	NBEAL2	3	47045639	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	2165774	47045639	150976791	39	40112											
SETD2	29072	genome.wustl.edu	37	chr3	47165518	47165519	+	Frame_Shift_Del	DEL	GA	GA	-																															ctgttactggtgctggtgatGagagtgttgtggcttgggca																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:47165518_47165519delGA	ENST00000409792.3	-	3	649_650	c.607_608delTC	c.(607-609)tcafs	p.S204fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	204	Pro-rich.				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)		TGCTGGTGATGAGAGTGTTGTG	0.525			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	0			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.607_608delTC	3.37:g.47165520_47165521delGA	ENSP00000386759:p.Ser204fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.S203fs	ENST00000409792.3	37	c.608_607	CCDS2749.2	3																																																																																			SETD2	-	NULL	ENSG00000181555		0.525	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2		0	65	0	GA	NM_014159		47165519	-1	tier1		no_errors	ENST00000409792	ensembl	human	known	74_37	frame_shift_del	23.68	58	18	DEL	0.025:0.018	-	-	47165519	GA	-	47165518	7	5	158	1	0	1	0	1	0	0	0	0	14176	1294	45	0	7162	0	SETD2	3	47165518	Frame_Shift_Del	DEL	GA	TCGA-V5-AASV-01A-11D-A387-09	119879	47165518	150856912	40	40113											
PFKFB4	5210	genome.wustl.edu	37	chr3	48561150	48561150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacctgctgccttgtcgagGaagtaggccagcaggcagcg	9	6	14	12	2	0	0	0	0	0	0	1	2	0	1	3	3	4	4	3	3	2	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:48561150G>T	ENST00000232375.3	-	11	1318	c.1206C>A	c.(1204-1206)ttC>ttA	p.F402L	PFKFB4_ENST00000536104.1_Missense_Mutation_p.F391L|PFKFB4_ENST00000383734.2_Missense_Mutation_p.F367L|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.F395L|PFKFB4_ENST00000541519.1_Missense_Mutation_p.F368L	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	402	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CCTTGTCGAGGAAGTAGGCCA	0.597																																																	0													99	87	91					3																	48561150		2203	4300	6503	SO:0001583	missense	0			BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1206C>A	3.37:g.48561150G>T	ENSP00000232375:p.Phe402Leu		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.F402L	ENST00000232375.3	37	c.1206	CCDS2771.1	3	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394917	0.62066	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519	.	.	.	4.6	2.63	0.31362	.	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.71674	0.995;0.982;0.998;0.994	P;D;D;P	0.74674	0.78;0.952;0.984;0.843	T	0.72584	-0.4249	9	0.87932	D	0	-4.8054	7.8113	0.29232	0.2245:0.0:0.7755:0.0	.	391;367;395;402	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	L	402;391;395;367;368	.	ENSP00000232375:F402L	F	-	3	2	PFKFB4	48536154	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.244000	0.51399	1.140000	0.42260	0.563000	0.77884	TTC	PFKFB4	-	pirsf_Bifunct_6PFK/fruc_bisP_Ptase	ENSG00000114268		0.597	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB4	HGNC	protein_coding	OTTHUMT00000257503.2	-	0	42	0	G	NM_004567		48561150	-1	tier1	-	no_errors	ENST00000232375	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	T	T	48561150	G	T	48561150	3	4	158	1	0	0	0	0	1	0	0	0	11802	1165	41	3	219	3	PFKFB4	3	48561150	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	1395632	48561150	149461280	41	40114											
DAG1	1605	genome.wustl.edu	37	chr3	49570287	49570287	+	Silent	SNP	C	C	A	0	0	0	1	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	taccgcaagaagcggaagggCaagcttacccttgaggacca	13	5	12	11	2	0	2	0	1	0	1	0	4	0	4	3	3	4	3	3	3	6	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:49570287C>A	ENST00000539901.1	+	3	2901	c.2343C>A	c.(2341-2343)ggC>ggA	p.G781G	DAG1_ENST00000515359.2_Silent_p.G781G|DAG1_ENST00000541308.1_Silent_p.G781G|DAG1_ENST00000545947.1_Silent_p.G781G|DAG1_ENST00000538711.1_Silent_p.G781G|DAG1_ENST00000308775.2_Silent_p.G781G	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	781					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)		AGCGGAAGGGCAAGCTTACCC	0.572																																																	0													64	51	55					3																	49570287		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2343C>A	3.37:g.49570287C>A			A8K6M7|Q969J9	Silent	SNP	pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg	p.G781	ENST00000539901.1	37	c.2343	CCDS2799.1	3																																																																																			DAG1	-	pfam_DAG1	ENSG00000173402		0.572	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1	-	0	27	0	C			49570287	1	tier1	-	no_errors	ENST00000308775	ensembl	human	known	74_37	silent	40.00	15	10	SNP	1.000	A	A	49570287	C	A	49570287	2	1	158	1	0	0	0	0	0	0	0	1	4234	697	25	3		3	DAG1	3	49570287	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	1009137	49570287	148452143	42	40115											
CCDC66	285331	genome.wustl.edu	37	chr3	56650051	56650051	+	Missense_Mutation	SNP	A	A	T	1	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	atacatatatgaattctacgActtctaagaaggatactggt	15	13	7	6	1	2	2	0	1	2	1	2	4	2	3	0	2	3	0	0	2	8	8	rs77152637|rs74463118	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:56650051A>T	ENST00000394672.3	+	13	1883	c.1813A>T	c.(1813-1815)Act>Tct	p.T605S	CCDC66_ENST00000436465.2_Missense_Mutation_p.T605S|CCDC66_ENST00000326595.7_Missense_Mutation_p.T571S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	605				T -> TS (in Ref. 3; AAI32828). {ECO:0000305}.	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)		GAATTCTACGACTTCTAAGAA	0.289																																																	0													83	96	92					3																	56650051		2203	4291	6494	SO:0001583	missense	0			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.1813A>T	3.37:g.56650051A>T	ENSP00000378167:p.Thr605Ser		B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	NULL	p.T605S	ENST00000394672.3	37	c.1813	CCDS46852.1	3	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.687010	0.00738	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.17370	2.28;2.31;2.3;2.31	5.59	1.92	0.25849	.	0.882722	0.10049	N	0.722482	T	0.12774	0.0310	L	0.54323	1.7	0.09310	N	1	B	0.25272	0.122	B	0.25291	0.059	T	0.42816	-0.9429	10	0.02654	T	1	0.5859	4.5617	0.12163	0.5839:0.1576:0.2585:0.0	.	605	A2RUB6	CCD66_HUMAN	S	561;605;571;605	ENSP00000401451:T561S;ENSP00000378167:T605S;ENSP00000326050:T571S;ENSP00000404320:T605S	ENSP00000326050:T571S	T	+	1	0	CCDC66	56625091	0.000000	0.05858	0.003000	0.11579	0.045000	0.14185	-0.099000	0.11007	0.161000	0.19458	0.482000	0.46254	ACT	CCDC66	-	NULL	ENSG00000180376		0.289	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC66	HGNC	protein_coding	OTTHUMT00000341473.1		0	40	0	A	NM_001012506		56650051	1			no_errors	ENST00000394672	ensembl	human	known	74_37	missense	7.58	61	5	SNP	0.002	T	T	56650051	A	T	56650051	3	4	158	1	0	0	0	0	1	0	0	0	2845	275	10	5	1863	5	CCDC66	3	56650051	Missense_Mutation	SNP	A	TCGA-V5-AASV-01A-11D-A387-09	7079764	56650051	141372379	43	40116											
PTPRG	5793	genome.wustl.edu	37	chr3	62229529	62229529	+	Silent	SNP	T	T	C	0	1	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	gtggaagacagcagttcaccTcgagtggtccctaatgaaag	12	8	12	9	1	1	2	1	1	0	1	3	4	2	3	2	2	1	2	2	2	3	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:62229529T>C	ENST00000474889.1	+	15	2801	c.2424T>C	c.(2422-2424)ccT>ccC	p.P808P	PTPRG_ENST00000295874.10_Silent_p.P779P	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	808					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)		GCAGTTCACCTCGAGTGGTCC	0.348																																																	0													103	106	105					3																	62229529		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2424T>C	3.37:g.62229529T>C			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.P808	ENST00000474889.1	37	c.2424	CCDS2895.1	3																																																																																			PTPRG	-	NULL	ENSG00000144724		0.348	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	-	0	89	0	T	NM_002841		62229529	1	tier1	-	no_errors	ENST00000474889	ensembl	human	known	74_37	silent	39.00	61	39	SNP	0.991	C	C	62229529	T	C	62229529	2	2	158	1	0	0	0	0	0	0	0	1	12847	1538	54	4		4	PTPRG	3	62229529	Silent	SNP	T	TCGA-V5-AASV-01A-11D-A387-09	5579478	62229529	135792901	44	40117											
NLGN1	22871	genome.wustl.edu	37	chr3	173525608	173525608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtcatcacagtcaactatcGacttggagtactcggtaaga	12	10	9	10	3	3	1	3	0	0	1	5	3	3	2	0	2	2	2	0	2	4	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:173525608G>A	ENST00000457714.1	+	4	1061	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	NLGN1_ENST00000545397.1_Missense_Mutation_p.R211Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R211Q|NLGN1_ENST00000401917.3_Missense_Mutation_p.R251Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	228					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.R211L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTCAACTATCGACTTGGAGTA	0.383																																																	2	Substitution - Missense(2)	lung(2)											141	134	136					3																	173525608		2203	4300	6503	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.632G>A	3.37:g.173525608G>A	ENSP00000392500:p.Arg211Gln		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R251Q	ENST00000457714.1	37	c.752	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.561031	0.96527	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	D	0.97857	0.9296	H	0.99487	4.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.99274	1.0894	10	0.87932	D	0	.	19.698	0.96034	0.0:0.0:1.0:0.0	.	251;211	D2X2H5;Q8N2Q7-2	.;.	Q	211;211;251;211;251	ENSP00000392500:R211Q;ENSP00000354541:R211Q;ENSP00000410374:R251Q;ENSP00000441108:R211Q;ENSP00000385750:R251Q	ENSP00000354541:R211Q	R	+	2	0	NLGN1	175008302	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.665000	0.90641	0.557000	0.71058	CGA	NLGN1	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000169760		0.383	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3		0	41	0	G	NM_014932		173525608	1			no_errors	ENST00000401917	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	173525608	G	A	173525608	3	1	158	1	0	0	0	0	1	0	0	0	10500	1058	37	1	638	1	NLGN1	3	173525608	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	111296079	173525608	24496822	45	40118											
TBL1XR1	79718	genome.wustl.edu	37	chr3	176755901	176755901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacctttaaagtcatgtcGtcagaacaggaggccaagag	14	9	10	8	1	2	2	2	0	0	2	3	3	2	3	2	2	2	0	2	2	5	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:176755901G>T	ENST00000430069.1	-	12	1366	c.1107C>A	c.(1105-1107)gaC>gaA	p.D369E	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D369E			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	369					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|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)|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 N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AAGTCATGTCGTCAGAACAGG	0.383																																																	0													85	83	84					3																	176755901		1900	4118	6018	SO:0001583	missense	0			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1107C>A	3.37:g.176755901G>T	ENSP00000405574:p.Asp369Glu		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D369E	ENST00000430069.1	37	c.1107	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217310	0.79352	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.60299	0.2;0.2	5.48	1.82	0.25136	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047137	0.85682	D	0.000000	T	0.65471	0.2694	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.60826	-0.7186	10	0.46703	T	0.11	-9.4324	9.211	0.37318	0.7097:0.0:0.2902:0.0	.	369	Q9BZK7	TBL1R_HUMAN	E	369;369;231	ENSP00000405574:D369E;ENSP00000413251:D369E	ENSP00000405574:D369E	D	-	3	2	TBL1XR1	178238595	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.165000	0.42396	0.085000	0.17107	-0.324000	0.08512	GAC	TBL1XR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000177565		0.383	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	-	0	51	0	G	NM_024665		176755901	-1	tier1	-	no_errors	ENST00000430069	ensembl	human	known	74_37	missense	26.39	53	19	SNP	1.000	T	T	176755901	G	T	176755901	3	4	158	1	0	0	0	0	1	0	0	0	15687	1136	40	2	457	2	TBL1XR1	3	176755901	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	3230293	176755901	21266529	46	40119											
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	63	0	G			178936091	1	tier1	rs104886003	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	30.68	61	27	SNP	1.000	A	A	178936091	G	A	178936091	3	1	158	1	0	0	0	0	1	0	0	0	11952	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	2180190	178936091	19086339	47	40120											
USP13	8975	genome.wustl.edu	37	chr3	179426666	179426666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgacagctctgggggcaaCgggcatgcgctggagcatta	8	9	15	9	2	1	1	0	1	1	0	1	2	1	2	0	4	4	5	0	4	2	2	rs552007222		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr3:179426666C>T	ENST00000263966.3	+	6	1197	c.726C>T	c.(724-726)aaC>aaT	p.N242N	USP13_ENST00000496897.1_Silent_p.N177N|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	242					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTGGGGGCAACGGGCATGCGC	0.567													C|||	1	0.000199681	0	0	5008	,	,		17865	0.001		0	False		,,,				2504	0																0													145	128	134					3																	179426666		2203	4300	6503	SO:0001819	synonymous_variant	0			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.726C>T	3.37:g.179426666C>T			A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.N242	ENST00000263966.3	37	c.726	CCDS3235.1	3																																																																																			USP13	-	pfam_Znf_UBP,smart_Znf_UBP,pirsf_Ubiquitinyl_hydrolase,pfscan_Znf_UBP	ENSG00000058056		0.567	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	HGNC	protein_coding	OTTHUMT00000349617.1	-	0	70	0	C			179426666	1	tier1	-	no_errors	ENST00000263966	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.207	T	T	179426666	C	T	179426666	2	4	158	1	0	0	0	0	0	0	0	1	17093	535	19	1		1	USP13	3	179426666	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	490575	179426666	18595764	48	40121											
OTOP1	133060	genome.wustl.edu	37	chr4	4199591	4199591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	caccaccacagcaatggtggCggccagcacggtcaggccca	10	3	12	16	2	1	0	1	0	0	0	1	0	1	0	4	5	2	2	4	5	1	0	rs200213513		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:4199591C>T	ENST00000296358.4	-	5	994	c.970G>A	c.(970-972)Gcc>Acc	p.A324T		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	324					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A324T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAATGGTGGCGGCCAGCACG	0.562																																																	1	Substitution - Missense(1)	endometrium(1)											50	47	48					4																	4199591		2203	4300	6503	SO:0001583	missense	0			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.970G>A	4.37:g.4199591C>T	ENSP00000296358:p.Ala324Thr		A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.A324T	ENST00000296358.4	37	c.970	CCDS3372.1	4	.	.	.	.	.	.	.	.	.	.	C	3.487	-0.104656	0.06967	.	.	ENSG00000163982	ENST00000296358	T	0.22336	1.96	4.8	0.0368	0.14193	.	0.451861	0.24007	N	0.042416	T	0.09818	0.0241	N	0.24115	0.695	0.33462	D	0.58506	B	0.26041	0.14	B	0.22601	0.04	T	0.16512	-1.0400	10	0.24483	T	0.36	.	3.7806	0.08679	0.1776:0.2734:0.0:0.549	.	324	Q7RTM1	OTOP1_HUMAN	T	324	ENSP00000296358:A324T	ENSP00000296358:A324T	A	-	1	0	OTOP1	4250492	0.655000	0.27376	0.739000	0.30968	0.066000	0.16364	0.996000	0.29719	0.358000	0.24211	0.404000	0.27445	GCC	OTOP1	-	pfam_Otopetrin	ENSG00000163982		0.562	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	-	0	30	0	C	NM_177998		4199591	-1	tier1	rs200213513	no_errors	ENST00000296358	ensembl	human	known	74_37	missense	41.82	32	23	SNP	0.526	T	T	4199591	C	T	4199591	3	4	158	1	0	0	0	0	1	0	0	0	11344	768	27	1	876	1	OTOP1	4	4199591	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09		4199591	186954685	49	40122											
HTRA3	94031	genome.wustl.edu	37	chr4	8272043	8272043	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgcagctctccgggacGcccgtgcgccagctgcagaa	6	5	14	16	5	1	1	0	0	1	1	2	2	1	2	3	1	5	5	3	1	1	0	rs377722262	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:8272043G>A	ENST00000307358.2	+	1	552	c.348G>A	c.(346-348)acG>acA	p.T116T	HTRA3_ENST00000382512.3_Silent_p.T116T	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	116	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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						TCTCCGGGACGCCCGTGCGCC	0.701													G|||	15	0.00299521	0.0106	0.0014	5008	,	,		10140	0		0	False		,,,				2504	0																0								G		5,1907		0,5,951	2	2	2		348	1.6	0.9	4		2	0,4228		0,0,2114	no	coding-synonymous	HTRA3	NM_053044.3		0,5,3065	AA,AG,GG		0.0,0.2615,0.0814		116/454	8272043	5,6135	956	2114	3070	SO:0001819	synonymous_variant	0			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.348G>A	4.37:g.8272043G>A			Q7Z7A2	Silent	SNP	pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.T116	ENST00000307358.2	37	c.348	CCDS3400.1	4																																																																																			HTRA3	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000170801		0.701	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA3	HGNC	protein_coding	OTTHUMT00000092669.1	-	0	8	0	G	NM_053044		8272043	1	tier1	-	no_errors	ENST00000307358	ensembl	human	known	74_37	silent	100.00	0	6	SNP	0.986	A	A	8272043	G	A	8272043	2	1	158	1	0	0	0	0	0	0	0	1	7482	1074	38	1		1	HTRA3	4	8272043	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	4072452	8272043	182882233	50	40123											
PRDM8	56978	genome.wustl.edu	37	chr4	81122551	81122551	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgaagcctacataaaaaaCggacagctgttctaccgctc	13	9	7	12	2	1	1	0	1	1	0	2	2	1	2	2	1	5	3	2	1	6	5			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:81122551C>T	ENST00000504452.1	+	7	1166	c.327C>T	c.(325-327)aaC>aaT	p.N109N	PRDM8_ENST00000339711.4_Silent_p.N109N|PRDM8_ENST00000415738.2_Silent_p.N109N			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	109	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						ACATAAAAAACGGACAGCTGT	0.507																																																	0													69	71	70					4																	81122551		1898	4120	6018	SO:0001819	synonymous_variant	0			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.327C>T	4.37:g.81122551C>T			A8K7X2|Q6IQ36	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N109	ENST00000504452.1	37	c.327	CCDS43243.1	4																																																																																			PRDM8	-	NULL	ENSG00000152784		0.507	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRDM8	HGNC	protein_coding	OTTHUMT00000362793.1	-	0	44	0	C			81122551	1	tier1	-	no_errors	ENST00000339711	ensembl	human	known	74_37	silent	50.00	29	29	SNP	1.000	T	T	81122551	C	T	81122551	2	4	158	1	0	0	0	0	0	0	0	1	12504	535	19	1		1	PRDM8	4	81122551	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	72850508	81122551	110031725	51	40124											
AFF1	4299	genome.wustl.edu	37	chr4	88029432	88029432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagcagttcaagtgacagcGaagaaaatgagcccctagaa	17	5	11	8	1	1	5	1	2	0	3	1	6	1	5	2	0	3	2	2	0	6	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:88029432G>A	ENST00000307808.6	+	10	1897	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	AFF1_ENST00000395146.4_Missense_Mutation_p.E500K|AFF1_ENST00000544085.1_Missense_Mutation_p.E131K	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	493					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)		AAGTGACAGCGAAGAAAATGA	0.532																																																	0													94	90	91					4																	88029432		2203	4300	6503	SO:0001583	missense	0			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.1477G>A	4.37:g.88029432G>A	ENSP00000305689:p.Glu493Lys		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.E500K	ENST00000307808.6	37	c.1498	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.153595	0.94645	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.7	5.7	0.88788	.	0.136846	0.49916	D	0.000130	D	0.88738	0.6518	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67103	0.949;0.949;0.949	D	0.86078	0.1542	10	0.24483	T	0.36	-15.6693	19.8411	0.96685	0.0:0.0:1.0:0.0	.	500;493;493	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	K	500;152;493;131;131;184	ENSP00000378578:E500K;ENSP00000305689:E493K;ENSP00000424766:E131K;ENSP00000440843:E131K;ENSP00000424881:E184K	ENSP00000305689:E493K	E	+	1	0	AFF1	88248456	1.000000	0.71417	0.958000	0.39756	0.983000	0.72400	8.657000	0.91106	2.683000	0.91414	0.655000	0.94253	GAA	AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.532	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	-	0	57	0	G	NM_005935		88029432	1	tier1	-	no_errors	ENST00000395146	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	A	A	88029432	G	A	88029432	3	1	158	1	0	0	0	0	1	0	0	0	356	1059	37	1	1557	1	AFF1	4	88029432	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	6906881	88029432	103124844	52	40125											
ARSJ	79642	genome.wustl.edu	37	chr4	114823764	114823764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagccatacacttttgccaGttgacaaggtgatccgttca	12	11	8	10	1	1	2	1	2	0	0	2	2	2	2	3	1	3	2	3	1	3	5	rs573816231		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:114823764G>T	ENST00000315366.7	-	2	2332	c.1466C>A	c.(1465-1467)aCt>aAt	p.T489N	ARSJ_ENST00000541197.1_Missense_Mutation_p.T489N	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	489					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ACTTTTGCCAGTTGACAAGGT	0.522																																																	0													95	90	92					4																	114823764		1940	4147	6087	SO:0001583	missense	0				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1466C>A	4.37:g.114823764G>T	ENSP00000320219:p.Thr489Asn		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.T489N	ENST00000315366.7	37	c.1466	CCDS43264.1	4	.	.	.	.	.	.	.	.	.	.	G	8.652	0.898465	0.17686	.	.	ENSG00000180801	ENST00000315366;ENST00000541197;ENST00000545965	D;D	0.92446	-3.04;-3.04	5.3	5.3	0.74995	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.879365	0.09932	N	0.737091	D	0.87450	0.6180	N	0.20483	0.58	0.09310	N	1	P;B	0.34864	0.473;0.27	B;B	0.36030	0.124;0.216	T	0.79082	-0.1949	10	0.38643	T	0.18	.	14.5509	0.68065	0.0:0.1461:0.8539:0.0	.	489;489	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	N	489;489;58	ENSP00000320219:T489N;ENSP00000438836:T489N	ENSP00000320219:T489N	T	-	2	0	ARSJ	115043213	0.773000	0.28580	0.882000	0.34594	0.844000	0.47949	2.406000	0.44557	2.484000	0.83849	0.655000	0.94253	ACT	ARSJ	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000180801		0.522	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1		0	73	0	G	NM_024590		114823764	-1			no_errors	ENST00000315366	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.048	T	T	114823764	G	T	114823764	3	4	158	1	0	0	0	0	1	0	0	0	996	1029	36	3	337	3	ARSJ	4	114823764	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	26794332	114823764	76330512	53	40126											
MFSD8	256471	genome.wustl.edu	37	chr4	128841926	128841926	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagcatacacttggctGatgaacataggcccaagaat	14	8	10	9	0	0	4	0	3	0	1	0	4	0	4	1	2	3	2	1	2	5	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:128841926G>T	ENST00000296468.3	-	13	1543	c.1416C>A	c.(1414-1416)atC>atA	p.I472I	MFSD8_ENST00000513559.1_Silent_p.I427I|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	472					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ACACTTGGCTGATGAACATAG	0.512																																																	0													63	59	60					4																	128841926		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1416C>A	4.37:g.128841926G>T			B2RDM1|B7Z205|Q8N2P3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I472	ENST00000296468.3	37	c.1416	CCDS3736.1	4																																																																																			MFSD8	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000164073		0.512	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	-	0	65	0	G	NM_152778		128841926	-1	tier1	-	no_errors	ENST00000296468	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T	T	128841926	G	T	128841926	2	4	158	1	0	0	0	0	0	0	0	1	9576	1280	45	3		3	MFSD8	4	128841926	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	14018162	128841926	62312350	54	40127											
SMARCA5	8467	genome.wustl.edu	37	chr4	144449849	144449849	+	Missense_Mutation	SNP	T	T	A	0	1	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	cttaactttctgttgccagaTgtgtttaattcagcagatgt	9	17	8	7	0	2	2	1	0	1	2	2	2	2	2	1	0	3	3	1	0	2	6			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:144449849T>A	ENST00000283131.3	+	8	1533	c.1071T>A	c.(1069-1071)gaT>gaA	p.D357E		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	357	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)					TGTTGCCAGATGTGTTTAATT	0.343																																																	0													160	143	149					4																	144449849		2203	4300	6503	SO:0001583	missense	0			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.1071T>A	4.37:g.144449849T>A	ENSP00000283131:p.Asp357Glu			Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D357E	ENST00000283131.3	37	c.1071	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756224	0.69648	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.93604	-3.25	5.94	4.76	0.60689	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	N	0.03253	-0.375	0.53688	D	0.999973	P	0.41978	0.767	P	0.46885	0.53	D	0.85973	0.1478	10	0.34782	T	0.22	-5.2033	12.1443	0.54014	0.0:0.0666:0.0:0.9334	.	357	O60264	SMCA5_HUMAN	E	357;300;300	ENSP00000283131:D357E	ENSP00000283131:D357E	D	+	3	2	SMARCA5	144669299	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.289000	0.43523	1.074000	0.40909	-0.280000	0.10049	GAT	SMARCA5	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000153147		0.343	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	-	0	91	0	T			144449849	1	tier1	-	no_errors	ENST00000283131	ensembl	human	known	74_37	missense	75.64	19	59	SNP	1.000	A	A	144449849	T	A	144449849	3	1	158	1	0	0	0	0	1	0	0	0	14816	1461	51	5	1101	5	SMARCA5	4	144449849	Missense_Mutation	SNP	T	TCGA-V5-AASV-01A-11D-A387-09	15607923	144449849	46704427	55	40128											
POU4F2	5458	genome.wustl.edu	37	chr4	147560493	147560493	+	Silent	SNP	A	A	C	1	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	ggcggcggcggcggcggcggAggccgaagcagcagctccag	6	1	21	13	7	0	0	0	0	0	0	1	2	1	1	2	8	3	3	2	8	1	0	rs532126509	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr4:147560493A>C	ENST00000281321.3	+	1	449	c.201A>C	c.(199-201)ggA>ggC	p.G67G	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	67	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					gcggcggcggaggccgaagca	0.751													A|||	33	0.00658946	0.0091	0.0029	5008	,	,		8557	0.0079		0.001	False		,,,				2504	0.0102																0													5	7	7					4																	147560493		1859	3721	5580	SO:0001819	synonymous_variant	0			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.201A>C	4.37:g.147560493A>C			B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.G67	ENST00000281321.3	37	c.201	CCDS34074.1	4																																																																																			POU4F2	-	NULL	ENSG00000151615		0.751	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1		0	32	0	A	NM_004575		147560493	1			no_errors	ENST00000281321	ensembl	human	known	74_37	silent	10.87	41	5	SNP	0.938	C	C	147560493	A	C	147560493	2	2	158	1	0	0	0	0	0	0	0	1	12318	291	11	4		4	POU4F2	4	147560493	Silent	SNP	A	TCGA-V5-AASV-01A-11D-A387-09	3110644	147560493	43593783	56	40129											
PRDM9	56979	genome.wustl.edu	37	chr5	23526880	23526880	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggagtgtgggcggggcttTagctggaagtcacacctcct	7	9	16	9	1	1	0	1	0	0	0	2	2	2	2	2	5	1	2	2	5	2	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:23526880T>C	ENST00000296682.3	+	11	1865	c.1683T>C	c.(1681-1683)ttT>ttC	p.F561F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	561					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						GGCGGGGCTTTAGCTGGAAGT	0.532										HNSCC(3;0.000094)																																							0													77	84	81					5																	23526880		2182	4295	6477	SO:0001819	synonymous_variant	0			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.1683T>C	5.37:g.23526880T>C			B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.F561	ENST00000296682.3	37	c.1683	CCDS43307.1	5																																																																																			PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.532	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	114	0	T	NM_020227		23526880	1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	silent	34.34	64	34	SNP	0.629	C	C	23526880	T	C	23526880	2	2	158	1	0	0	0	0	0	0	0	1	12505	1751	61	4		4	PRDM9	5	23526880	Silent	SNP	T	TCGA-V5-AASV-01A-11D-A387-09		23526880	157388380	57	40130											
UGT3A2	167127	genome.wustl.edu	37	chr5	36066849	36066851	+	In_Frame_Del	DEL	GGA	GGA	-																															ctctgagagcaggaccccagGgagaaggaagcccactagaa																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:36066849_36066851delGGA	ENST00000282507.3	-	1	142_144	c.41_43delTCC	c.(40-45)ctccct>cct	p.L14del	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_In_Frame_Del_p.L14del|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	14					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGACCCCAGGGAGAAGGAAGCC	0.611																																																	0																																										SO:0001651	inframe_deletion	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.41_43delTCC	5.37:g.36066849_36066851delGGA	ENSP00000282507:p.Leu14del		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	In_Frame_Del	DEL	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L14in_frame_del	ENST00000282507.3	37	c.43_41	CCDS3914.1	5																																																																																			UGT3A2	-	NULL	ENSG00000168671		0.611	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2		0	86	0	GGA	NM_174914		36066851	-1	tier1		no_errors	ENST00000282507	ensembl	human	known	74_37	in_frame_del	23.08	60	18	DEL	0.000:0.001:0.003	-	-	36066851	GGA	-	36066849	7	5	158	1	0	1	0	1	0	0	0	0	17013	1232	43	0	1556	0	UGT3A2	5	36066849	In_Frame_Del	DEL	GGA	TCGA-V5-AASV-01A-11D-A387-09	12539969	36066849	144848411	58	40131	141	3									
UGT3A2	167127	genome.wustl.edu	37	chr5	36066850	36066850	+	Silent	SNP	G	G	A																															tctgagagcaggaccccaggGagaaggaagcccactagaag																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:36066850G>A	ENST00000282507.3	-	1	143	c.42C>T	c.(40-42)ctC>ctT	p.L14L	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Silent_p.L14L|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	14					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGACCCCAGGGAGAAGGAAGC	0.607																																																	0													132	138	136					5																	36066850		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.42C>T	5.37:g.36066850G>A			B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L14	ENST00000282507.3	37	c.42	CCDS3914.1	5																																																																																			UGT3A2	-	NULL	ENSG00000168671		0.607	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2		0	85	0	G	NM_174914		36066850	-1			no_errors	ENST00000282507	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.001	A	A	36066850	G	A	36066850	2	1	158	1	0	0	0	0	0	0	0	1	17013	1161	41	3		3	UGT3A2	5	36066850	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	1	36066850	144848410	59	40132	141	3									
UGT3A2	167127	genome.wustl.edu	37	chr5	36066855	36066855	+	Frame_Shift_Del	DEL	G	G	-																															gagcaggaccccagggagaaGgaagcccactagaagaagca																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:36066855delG	ENST00000282507.3	-	1	138	c.37delC	c.(37-39)cttfs	p.L14fs	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Frame_Shift_Del_p.L14fs|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	14					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAGGGAGAAGGAAGCCCACT	0.617																																																	0													130	135	133					5																	36066855		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.37delC	5.37:g.36066855delG	ENSP00000282507:p.Leu14fs		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Frame_Shift_Del	DEL	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L13fs	ENST00000282507.3	37	c.37	CCDS3914.1	5																																																																																			UGT3A2	-	NULL	ENSG00000168671		0.617	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2		0	86	0	G	NM_174914		36066855	-1	tier1		no_errors	ENST00000282507	ensembl	human	known	74_37	frame_shift_del	23.38	59	18	DEL	0.000	-	-	36066855	G	-	36066855	7	5	158	1	0	1	0	1	0	0	0	0	17013	1000	35	0	1562	0	UGT3A2	5	36066855	Frame_Shift_Del	DEL	G	TCGA-V5-AASV-01A-11D-A387-09	5	36066855	144848405	60	40133	141	3									
ITGA2	3673	genome.wustl.edu	37	chr5	52358761	52358762	+	Splice_Site	INS	-	-	A																															ctgtttactatcaaagaggtINSaaaaaaaaaaaaataaacta																								rs545988273|rs201610232	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:52358761_52358762insA	ENST00000296585.5	+	13	1745		c.e13+2			NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)						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)				ATCAAAGAGGTAAAAAAAAAAA	0.307																																																	0																																										SO:0001630	splice_region_variant	0				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.1602+2->A	5.37:g.52358772_52358772dupA			Q14595	Splice_Site	INS	-	e13+2	ENST00000296585.5	37	c.1602+2_1602+1	CCDS3957.1	5																																																																																			ITGA2	-	-	ENSG00000164171		0.307	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2		0	46	0	-	NM_002203	Intron	52358762	1	tier1		no_errors	ENST00000296585	ensembl	human	known	74_37	splice_site_ins	11.32	47	6	INS	1.000:1.000	A	A	52358762	-	A	52358761	8	5	158	1	0	1	1	0	0	0	1	0	7902	1652	57	0	1654	0	ITGA2	5	52358761	Splice_Site	INS	-	TCGA-V5-AASV-01A-11D-A387-09	16291906	52358761	128556499	61	40134											
MAST4	375449	genome.wustl.edu	37	chr5	66462641	66462641	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	aaacaccatgggcggggccaGccaccgggacagggctctct	9	4	14	14	2	1	0	0	0	1	0	2	1	1	1	4	5	2	1	4	5	1	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:66462641G>A	ENST00000403625.2	+	29	7929	c.7634G>A	c.(7633-7635)aGc>aAc	p.S2545N	MAST4_ENST00000261569.7_Missense_Mutation_p.S2351N|MAST4_ENST00000403666.1_Missense_Mutation_p.S2356N|MAST4_ENST00000404260.3_Missense_Mutation_p.S2548N|MAST4_ENST00000405643.1_Missense_Mutation_p.S2366N	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2548						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)		GGCGGGGCCAGCCACCGGGAC	0.647																																																	0													14	20	18					5																	66462641		1918	4108	6026	SO:0001583	missense	0			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.7634G>A	5.37:g.66462641G>A	ENSP00000385727:p.Ser2545Asn		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.S2548N	ENST00000403625.2	37	c.7643	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440559	0.83993	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.64803	-0.09;-0.09;-0.12;-0.11;-0.09	4.96	4.96	0.65561	.	0.677041	0.14008	N	0.347662	T	0.50752	0.1634	N	0.19112	0.55	0.09310	N	1	B;B	0.26547	0.094;0.152	B;B	0.27500	0.037;0.08	T	0.43180	-0.9407	10	0.37606	T	0.19	-4.2771	16.9304	0.86189	0.0:0.0:1.0:0.0	.	2548;2356	O15021;O15021-3	MAST4_HUMAN;.	N	2548;2545;2356;2366;2366;2351	ENSP00000385048:S2548N;ENSP00000385727:S2545N;ENSP00000384313:S2356N;ENSP00000384099:S2366N;ENSP00000261569:S2351N	ENSP00000261569:S2351N	S	+	2	0	MAST4	66498397	0.994000	0.37717	0.469000	0.27204	0.884000	0.51177	5.750000	0.68712	2.734000	0.93682	0.561000	0.74099	AGC	MAST4	-	NULL	ENSG00000069020		0.647	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2		0	75	0	G			66462641	1			no_errors	ENST00000404260	ensembl	human	known	74_37	missense	6.56	56	4	SNP	0.469	A	A	66462641	G	A	66462641	3	1	158	1	0	0	0	0	1	0	0	0	9365	971	34	3	7878	3	MAST4	5	66462641	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	14103880	66462641	114452619	62	40135											
FCHO2	115548	genome.wustl.edu	37	chr5	72354318	72354320	+	In_Frame_Del	DEL	TCT	TCT	-																															ttggaccatctcttgattcaTcttcttcatcttcactaact																								rs201343261		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:72354318_72354320delTCT	ENST00000430046.2	+	17	1428_1430	c.1312_1314delTCT	c.(1312-1314)tctdel	p.S442del	FCHO2_ENST00000512348.1_In_Frame_Del_p.S409del|FCHO2_ENST00000341845.6_In_Frame_Del_p.S442del	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	442	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)		TCTTGATTCATCTTCTTCATCTT	0.281																																																	0																																										SO:0001651	inframe_deletion	0			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.1312_1314delTCT	5.37:g.72354321_72354323delTCT	ENSP00000393776:p.Ser442del		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	In_Frame_Del	DEL	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.S441in_frame_del	ENST00000430046.2	37	c.1312_1314	CCDS47230.1	5																																																																																			FCHO2	-	NULL	ENSG00000157107		0.281	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3		0	122	0	TCT	XM_291142		72354320	1	tier1		no_errors	ENST00000341845	ensembl	human	known	74_37	in_frame_del	33.69	124	63	DEL	0.930:0.927:0.004	-	-	72354320	TCT	-	72354318	7	5	158	1	0	1	0	1	0	0	0	0	5810	1435	50	0	1378	0	FCHO2	5	72354318	In_Frame_Del	DEL	TCT	TCGA-V5-AASV-01A-11D-A387-09	5891677	72354318	108560942	63	40136											
PAPD4	167153	genome.wustl.edu	37	chr5	78981027	78981027	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctttctctcccagtcatgGcacagattgaaaaacaagag	13	11	7	10	0	3	3	1	1	2	2	5	3	4	3	1	1	1	1	1	1	3	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:78981027G>A	ENST00000296783.3	+	16	1685	c.1386G>A	c.(1384-1386)tgG>tgA	p.W462*	PAPD4_ENST00000428308.2_Nonsense_Mutation_p.W462*|PAPD4_ENST00000453514.1_Nonsense_Mutation_p.W462*|PAPD4_ENST00000504233.1_Nonsense_Mutation_p.W419*|PAPD4_ENST00000423041.2_Nonsense_Mutation_p.W458*			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	462					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)	p.W462*(1)		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)		CCCAGTCATGGCACAGATTGA	0.333																																																	1	Substitution - Nonsense(1)	endometrium(1)											72	78	76					5																	78981027		2203	4299	6502	SO:0001587	stop_gained	0			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.1386G>A	5.37:g.78981027G>A	ENSP00000296783:p.Trp462*		Q86WZ2|Q8N927	Nonsense_Mutation	SNP	pfam_PAP_assoc	p.W462*	ENST00000296783.3	37	c.1386	CCDS4048.1	5	.	.	.	.	.	.	.	.	.	.	G	38	7.220976	0.98143	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	.	.	.	5.85	4.96	0.65561	.	0.448938	0.27371	N	0.019670	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-0.0249	14.5017	0.67727	0.0:0.0:0.8531:0.1469	.	.	.	.	X	462;458;419;462;462	.	ENSP00000296783:W462X	W	+	3	0	PAPD4	79016783	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.246000	0.65411	1.435000	0.47434	0.563000	0.77884	TGG	PAPD4	-	NULL	ENSG00000164329		0.333	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD4	HGNC	protein_coding	OTTHUMT00000226967.1		0	54	0	G	NM_173797		78981027	1			no_errors	ENST00000296783	ensembl	human	known	74_37	nonsense	5.66	50	3	SNP	1.000	A	A	78981027	G	A	78981027	4	1	158	1	0	0	0	0	0	1	0	0	11463	1212	42	3	1440	3	PAPD4	5	78981027	Nonsense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	6626709	78981027	101934233	64	40137											
ST8SIA4	7903	genome.wustl.edu	37	chr5	100192077	100192077	+	Missense_Mutation	SNP	T	T	A	0	1	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	ttcccacatctgcagcaaacTccaccacaggagctagatta	13	8	6	14	0	1	1	0	0	1	1	3	2	3	2	3	1	4	3	3	1	3	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:100192077T>A	ENST00000231461.5	-	4	837	c.527A>T	c.(526-528)gAg>gTg	p.E176V		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	176					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)		TGCAGCAAACTCCACCACAGG	0.363																																																	0													63	61	61					5																	100192077		2203	4300	6503	SO:0001583	missense	0			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.527A>T	5.37:g.100192077T>A	ENSP00000231461:p.Glu176Val		A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E176V	ENST00000231461.5	37	c.527	CCDS4091.1	5	.	.	.	.	.	.	.	.	.	.	T	17.23	3.337267	0.60963	.	.	ENSG00000113532	ENST00000231461	T	0.32272	1.46	5.32	5.32	0.75619	.	0.065942	0.64402	D	0.000008	T	0.49932	0.1586	M	0.73430	2.235	0.80722	D	1	P	0.49090	0.919	P	0.56563	0.801	T	0.48445	-0.9035	10	0.40728	T	0.16	-2.9769	14.6008	0.68441	0.0:0.0:0.0:1.0	.	176	Q92187	SIA8D_HUMAN	V	176	ENSP00000231461:E176V	ENSP00000231461:E176V	E	-	2	0	ST8SIA4	100219976	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.946000	0.63576	2.220000	0.72140	0.482000	0.46254	GAG	ST8SIA4	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000113532		0.363	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	HGNC	protein_coding	OTTHUMT00000250632.3	-	0	42	0	T	NM_005668		100192077	-1	tier1	-	no_errors	ENST00000231461	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	A	A	100192077	T	A	100192077	3	1	158	1	0	0	0	0	1	0	0	0	15281	1551	54	5	560	5	ST8SIA4	5	100192077	Missense_Mutation	SNP	T	TCGA-V5-AASV-01A-11D-A387-09	21211050	100192077	80723183	65	40138											
LMNB1	4001	genome.wustl.edu	37	chr5	126113552	126113554	+	In_Frame_Del	DEL	CTC	CTC	-																															aggcggaacacgaccagctgCtcctcaagtgagtgctagct																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:126113552_126113554delCTC	ENST00000261366.5	+	1	713_715	c.352_354delCTC	c.(352-354)ctcdel	p.L119del	LMNB1_ENST00000395354.1_In_Frame_Del_p.L119del|RP11-434D11.4_ENST00000509185.2_lincRNA|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	119	Coil 1B.|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)		CGACCAGCTGCTCCTCAAGTGAG	0.719																																																	0																																										SO:0001651	inframe_deletion	0			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.352_354delCTC	5.37:g.126113555_126113557delCTC	ENSP00000261366:p.Leu119del		B2R6J6|Q3SYN7|Q96EI6	In_Frame_Del	DEL	pfam_IF,pfam_Lamin_tail_dom	p.L119in_frame_del	ENST00000261366.5	37	c.352_354	CCDS4140.1	5																																																																																			LMNB1	-	pfam_IF	ENSG00000113368		0.719	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNB1	HGNC	protein_coding	OTTHUMT00000250956.2		0	25	0	CTC	NM_005573		126113554	1	tier1		no_errors	ENST00000261366	ensembl	human	known	74_37	in_frame_del	50.00	10	10	DEL	0.995:0.892:0.758	-	-	126113554	CTC	-	126113552	7	5	158	1	0	1	0	1	0	0	0	0	8879	797	28	0	354	0	LMNB1	5	126113552	In_Frame_Del	DEL	CTC	TCGA-V5-AASV-01A-11D-A387-09	25921475	126113552	54801708	66	40139											
SLC4A9	83697	genome.wustl.edu	37	chr5	139745542	139745545	+	Frame_Shift_Del	DEL	CTTA	CTTA	-																															tcttctcccttctcctcttcCttacttctttcttctttgct																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CTTA	CTTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:139745542_139745545delCTTA	ENST00000230993.6	+	13	1941_1944	c.1906_1909delCTTA	c.(1906-1911)cttactfs	p.LT636fs	SLC4A9_ENST00000506757.2_Frame_Shift_Del_p.LT612fs|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000507527.1_Frame_Shift_Del_p.LT636fs|SLC4A9_ENST00000432095.2_Frame_Shift_Del_p.LT598fs	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	636	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTCTTCCTTACTTCTTTCTT	0.559																																																	0																																										SO:0001589	frameshift_variant	0			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1906_1909delCTTA	5.37:g.139745542_139745545delCTTA	ENSP00000230993:p.Leu636fs		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Frame_Shift_Del	DEL	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.T637fs	ENST00000230993.6	37	c.1906_1909	CCDS58973.1	5																																																																																			SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000113073		0.559	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1		0	46	0	CTTA	NM_031467		139745545	1	tier1		no_errors	ENST00000230993	ensembl	human	known	74_37	frame_shift_del	13.95	37	6	DEL	1.000:1.000:0.995:1.000	-	-	139745545	CTTA	-	139745542	7	5	158	1	0	1	0	1	0	0	0	0	14705	681	24	0	1884	0	SLC4A9	5	139745542	Frame_Shift_Del	DEL	CTTA	TCGA-V5-AASV-01A-11D-A387-09	13631990	139745542	41169718	67	40140											
PCDH12	51294	genome.wustl.edu	37	chr5	141324997	141324997	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcttgccctcagtcccCgtctttccacctgggtcccc	2	12	7	20	1	3	0	1	0	2	0	6	0	6	0	7	1	2	1	7	1	0	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:141324997C>A	ENST00000231484.3	-	4	4714	c.3504G>T	c.(3502-3504)acG>acT	p.T1168T		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1168					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)			CCTCAGTCCCCGTCTTTCCAC	0.622																																																	0													22	21	21					5																	141324997		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3504G>T	5.37:g.141324997C>A			Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T1168	ENST00000231484.3	37	c.3504	CCDS4269.1	5																																																																																			PCDH12	-	NULL	ENSG00000113555		0.622	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	-	0	33	0	C	NM_016580		141324997	-1	tier1	-	no_errors	ENST00000231484	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.014	A	A	141324997	C	A	141324997	2	1	158	1	0	0	0	0	0	0	0	1	11549	639	23	2		2	PCDH12	5	141324997	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	1579455	141324997	39590263	68	40141											
G3BP1	10146	genome.wustl.edu	37	chr5	151183521	151183521	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctgccagggaaggcgaccgaCgagataatcgccttcgggga	10	5	15	11	5	0	1	0	0	0	1	2	6	0	3	3	4	1	0	3	4	2	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:151183521C>T	ENST00000394123.3	+	12	1415	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	G3BP1_ENST00000356245.3_Nonsense_Mutation_p.R424*|G3BP1_ENST00000543466.1_Nonsense_Mutation_p.R242*			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	424					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGGCGACCGACGAGATAATCG	0.582																																																	0													84	87	86					5																	151183521		2203	4300	6503	SO:0001587	stop_gained	0			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1270C>T	5.37:g.151183521C>T	ENSP00000377681:p.Arg424*		Q5HYE9	Nonsense_Mutation	SNP	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.R424*	ENST00000394123.3	37	c.1270	CCDS4319.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.356241	0.95854	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	.	.	.	5.36	2.49	0.30216	.	0.059601	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6416	9.0548	0.36399	0.449:0.4796:0.0:0.0714	.	.	.	.	X	424;242;424;266	.	ENSP00000274596:R266X	R	+	1	2	G3BP1	151163714	0.998000	0.40836	0.228000	0.23943	0.994000	0.84299	2.934000	0.48956	0.281000	0.22233	0.655000	0.94253	CGA	G3BP1	-	NULL	ENSG00000145907		0.582	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G3BP1	HGNC	protein_coding	OTTHUMT00000252431.1	-	0	41	0	C	NM_005754		151183521	1	tier1	-	no_errors	ENST00000356245	ensembl	human	known	74_37	nonsense	35.56	29	16	SNP	0.881	T	T	151183521	C	T	151183521	4	4	158	1	0	0	0	0	0	1	0	0	6165	528	19	1	1312	1	G3BP1	5	151183521	Nonsense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	9858524	151183521	29731739	69	40142											
SLU7	10569	genome.wustl.edu	37	chr5	159840617	159840617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaaatttggctccaactCgcctaggtctctaaaaacag	12	11	7	11	1	1	0	0	0	1	0	4	0	2	0	2	2	2	2	2	2	7	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:159840617C>T	ENST00000297151.4	-	5	803	c.416G>A	c.(415-417)cGa>cAa	p.R139Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	139					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)			GGCTCCAACTCGCCTAGGTCT	0.408																																																	0													86	80	82					5																	159840617		2203	4299	6502	SO:0001583	missense	0			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.416G>A	5.37:g.159840617C>T	ENSP00000297151:p.Arg139Gln		D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	pfam_Slu7,superfamily_Znf_CCHC	p.R139Q	ENST00000297151.4	37	c.416	CCDS4352.1	5	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650337	0.47362	.	.	ENSG00000164609	ENST00000297151;ENST00000521826	T;T	0.44482	1.51;0.92	5.56	2.73	0.32206	.	0.208186	0.48767	N	0.000175	T	0.28200	0.0696	L	0.45581	1.43	0.37973	D	0.933349	P	0.35872	0.525	B	0.24541	0.054	T	0.14504	-1.0470	10	0.72032	D	0.01	-21.6997	6.1455	0.20283	0.1322:0.6416:0.0:0.2262	.	139	O95391	SLU7_HUMAN	Q	139	ENSP00000297151:R139Q;ENSP00000428943:R139Q	ENSP00000297151:R139Q	R	-	2	0	SLU7	159773195	1.000000	0.71417	0.996000	0.52242	0.780000	0.44128	2.599000	0.46231	0.265000	0.21872	0.563000	0.77884	CGA	SLU7	-	NULL	ENSG00000164609		0.408	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLU7	HGNC	protein_coding	OTTHUMT00000252673.1	-	0	40	0	C	NM_006425		159840617	-1	tier1	-	no_errors	ENST00000297151	ensembl	human	known	74_37	missense	40.35	34	23	SNP	1.000	T	T	159840617	C	T	159840617	3	4	158	1	0	0	0	0	1	0	0	0	14800	884	31	1	1392	1	SLU7	5	159840617	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	8657096	159840617	21074643	70	40143											
ODZ2	57451	genome.wustl.edu	37	chr5	167420177	167420177	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggctattttgctggcGtatttcataggtaagtcagg	7	16	11	7	1	3	0	2	0	1	0	3	0	3	0	0	4	1	4	0	4	4	8	rs187245740	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:167420177G>T	ENST00000518659.1	+	5	1215	c.1176G>T	c.(1174-1176)gcG>gcT	p.A392A	TENM2_ENST00000545108.1_Silent_p.A392A|TENM2_ENST00000520394.1_Silent_p.A201A|TENM2_ENST00000403607.2_Silent_p.A225A|TENM2_ENST00000519204.1_Silent_p.A271A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	392					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)										TTTTGCTGGCGTATTTCATAG	0.537																																																	0													35	36	36					5																	167420177		1922	4134	6056	SO:0001819	synonymous_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1176G>T	5.37:g.167420177G>T			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A392	ENST00000518659.1	37	c.1176		5																																																																																			TENM2	-	NULL	ENSG00000145934		0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1		0	65	0	G	NM_001122679		167420177	1			no_errors	ENST00000518659	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.000	T	T	167420177	G	T	167420177	2	4	158	1	0	0	0	0	0	0	0	1	10874	1132	40	2		2	ODZ2	5	167420177	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	7579560	167420177	13495083	71	40144											
RARS	5917	genome.wustl.edu	37	chr5	167933162	167933162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaaacaaagactatttgaGgaaaaagcagatatgattat	20	11	7	3	0	0	4	0	2	0	2	0	5	0	5	0	1	2	1	0	1	8	5			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:167933162G>T	ENST00000231572.3	+	10	1248	c.1194G>T	c.(1192-1194)gaG>gaT	p.E398D	RARS_ENST00000538719.1_Missense_Mutation_p.E192D	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	398					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GACTATTTGAGGAAAAAGCAG	0.358																																																	0													149	145	146					5																	167933162		2203	4300	6503	SO:0001583	missense	0			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1194G>T	5.37:g.167933162G>T	ENSP00000231572:p.Glu398Asp		B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.E398D	ENST00000231572.3	37	c.1194	CCDS4367.1	5	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199966	0.38905	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.64803	-0.12;-0.12	5.58	3.74	0.42951	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.137173	0.64402	D	0.000003	T	0.46814	0.1412	L	0.28014	0.82	0.54753	D	0.99998	B	0.17465	0.022	B	0.26614	0.071	T	0.36359	-0.9751	10	0.29301	T	0.29	-30.9484	8.9069	0.35530	0.2709:0.0:0.7291:0.0	.	398	P54136	SYRC_HUMAN	D	398;192	ENSP00000231572:E398D;ENSP00000439108:E192D	ENSP00000231572:E398D	E	+	3	2	RARS	167865740	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.615000	0.24329	1.459000	0.47892	0.655000	0.94253	GAG	RARS	-	pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	ENSG00000113643		0.358	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2	-	0	75	0	G	NM_002887		167933162	1	tier1	-	no_errors	ENST00000231572	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	167933162	G	T	167933162	3	4	158	1	0	0	0	0	1	0	0	0	13103	991	35	3	1232	3	RARS	5	167933162	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	512985	167933162	12982098	72	40145											
KIAA1191	57179	genome.wustl.edu	37	chr5	175775006	175775006	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tccttatccccacttccagaGtccatggtgctaggatttgg	7	13	9	12	0	0	1	0	0	0	1	4	2	4	2	5	3	1	1	5	3	2	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:175775006G>T	ENST00000298569.4	-	8	1160	c.627C>A	c.(625-627)gaC>gaA	p.D209E	KIAA1191_ENST00000393725.2_Missense_Mutation_p.D190E|KIAA1191_ENST00000533553.1_3'UTR|KIAA1191_ENST00000510164.1_Missense_Mutation_p.D209E|KIAA1191_ENST00000393728.2_5'UTR|RP11-843P14.2_ENST00000508187.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	209						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		CACTTCCAGAGTCCATGGTGC	0.473																																																	0													76	77	77					5																	175775006		2203	4298	6501	SO:0001583	missense	0			BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.627C>A	5.37:g.175775006G>T	ENSP00000298569:p.Asp209Glu		B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	NULL	p.D209E	ENST00000298569.4	37	c.627	CCDS4399.1	5	.	.	.	.	.	.	.	.	.	.	G	15.59	2.880007	0.51801	.	.	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164	.	.	.	5.4	1.0	0.19881	.	0.171645	0.50627	D	0.000111	T	0.52306	0.1726	M	0.62016	1.91	0.80722	D	1	B	0.33448	0.412	B	0.40165	0.321	T	0.47045	-0.9147	9	0.51188	T	0.08	-14.9582	4.7948	0.13267	0.4566:0.0:0.3905:0.1529	.	209	Q96A73	K1191_HUMAN	E	209;190;209	.	ENSP00000298569:D209E	D	-	3	2	KIAA1191	175707612	0.998000	0.40836	0.997000	0.53966	0.565000	0.35776	0.900000	0.28431	0.341000	0.23771	-0.345000	0.07892	GAC	KIAA1191	-	NULL	ENSG00000122203		0.473	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1191	HGNC	protein_coding	OTTHUMT00000253146.2		0	28	0	G	NM_020444		175775006	-1			no_errors	ENST00000298569	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.990	T	T	175775006	G	T	175775006	3	4	158	1	0	0	0	0	1	0	0	0	8239	1020	36	3	298	3	KIAA1191	5	175775006	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	7841844	175775006	5140254	73	40146											
NSD1	64324	genome.wustl.edu	37	chr5	176696681	176696681	+	Frame_Shift_Del	DEL	C	C	-																															agacatgatgtgggagagttCccagtcctcttttttggatc																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:176696681delC	ENST00000439151.2	+	16	5427	c.5382delC	c.(5380-5382)ttcfs	p.F1794fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.F1691fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.F1525fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.F1525fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1794	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				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)		TGGGAGAGTTCCCAGTCCTCT	0.498			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													119	112	115					5																	176696681		2203	4300	6503	SO:0001589	frameshift_variant	0	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.5382delC	5.37:g.176696681delC	ENSP00000395929:p.Phe1794fs		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.P1795fs	ENST00000439151.2	37	c.5382	CCDS4412.1	5																																																																																			NSD1	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000165671		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2		0	80	0	C	NM_172349		176696681	1	tier1		no_errors	ENST00000439151	ensembl	human	known	74_37	frame_shift_del	59.18	20	29	DEL	0.999	-	-	176696681	C	-	176696681	7	5	158	1	0	1	0	1	0	0	0	0	10708	854	30	0	5440	0	NSD1	5	176696681	Frame_Shift_Del	DEL	C	TCGA-V5-AASV-01A-11D-A387-09	921675	176696681	4218579	74	40147											
DOK3	79930	genome.wustl.edu	37	chr5	176935396	176935396	+	Missense_Mutation	SNP	T	T	G	0	1	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	cacacagtcagccaggcggaTgacccgtcgctcccctcgcc	7	5	10	19	4	1	1	1	1	0	0	4	2	2	2	5	2	1	1	5	2	0	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr5:176935396T>G	ENST00000357198.4	-	3	386	c.382A>C	c.(382-384)Atc>Ctc	p.I128L	DOK3_ENST00000501403.2_Missense_Mutation_p.I72L|DOK3_ENST00000312943.6_Missense_Mutation_p.I72L|DOK3_ENST00000377112.4_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	128	PH.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			GCCAGGCGGATGACCCGTCGC	0.716																																																	0													18	21	20					5																	176935396		2197	4294	6491	SO:0001583	missense	0			AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.382A>C	5.37:g.176935396T>G	ENSP00000349727:p.Ile128Leu		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.I128L	ENST00000357198.4	37	c.382	CCDS4426.1	5	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443481	0.83993	.	.	ENSG00000146094	ENST00000312943;ENST00000357198;ENST00000501403;ENST00000510380;ENST00000506493;ENST00000502885;ENST00000510898	T;T;T;T	0.60424	0.19;1.32;0.64;0.3	4.7	4.7	0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.64402	D	0.000006	T	0.68586	0.3017	L	0.49778	1.585	0.33294	D	0.563958	D;P	0.64830	0.994;0.919	D;P	0.76071	0.987;0.717	T	0.76868	-0.2800	10	0.52906	T	0.07	-28.4318	11.6985	0.51556	0.0:0.0:0.0:1.0	.	128;72	Q7L591;Q7L591-3	DOK3_HUMAN;.	L	72;128;72;72;72;72;72	ENSP00000325174:I72L;ENSP00000349727:I128L;ENSP00000421688:I72L;ENSP00000422395:I72L	ENSP00000325174:I72L	I	-	1	0	DOK3	176868002	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.386000	0.44380	1.760000	0.52011	0.402000	0.26972	ATC	DOK3	-	smart_Pleckstrin_homology	ENSG00000146094		0.716	DOK3-001	KNOWN	basic|CCDS	protein_coding	DOK3	HGNC	protein_coding	OTTHUMT00000253420.4	-	0	23	0	T	NM_024872		176935396	-1	tier1	-	no_errors	ENST00000357198	ensembl	human	known	74_37	missense	37.50	9	6	SNP	1.000	G	G	176935396	T	G	176935396	3	3	158	1	0	0	0	0	1	0	0	0	4712	1464	51	4	1476	4	DOK3	5	176935396	Missense_Mutation	SNP	T	TCGA-V5-AASV-01A-11D-A387-09	238715	176935396	3979864	75	40148											
FOXC1	2296	genome.wustl.edu	37	chr6	1610969	1610971	+	In_Frame_Del	DEL	AAG	AAG	-																															ccatccagaacgccccggacAagaagatcaccctgaacggc																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:1610969_1610971delAAG	ENST00000380874.2	+	1	289_291	c.289_291delAAG	c.(289-291)aagdel	p.K98del		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	98					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)		CGCCCCGGACAAGAAGATCACCC	0.601																																					Pancreas(133;719 1821 3197 26645 35015)												0																																										SO:0001651	inframe_deletion	0			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.289_291delAAG	6.37:g.1610972_1610974delAAG	ENSP00000370256:p.Lys98del		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	In_Frame_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.K98in_frame_del	ENST00000380874.2	37	c.289_291	CCDS4473.1	6																																																																																			FOXC1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000054598		0.601	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	HGNC	protein_coding	OTTHUMT00000043450.1		0	131	0	AAG			1610971	1	tier1		no_errors	ENST00000380874	ensembl	human	known	74_37	in_frame_del	52.56	37	41	DEL	1.000:1.000:1.000	-	-	1610971	AAG	-	1610969	7	5	158	1	0	1	0	1	0	0	0	0	6016	131	5	0	291	0	FOXC1	6	1610969	In_Frame_Del	DEL	AAG	TCGA-V5-AASV-01A-11D-A387-09		1610969	169504098	76	40149											
HIST1H1E	3008	genome.wustl.edu	37	chr6	26156678	26156680	+	In_Frame_Del	DEL	GAA	GAA	-																															cctgccgagaagactcccgtGaagaagaaggcccgcaagtc																								rs545095988	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:26156678_26156680delGAA	ENST00000304218.3	+	1	120_122	c.60_62delGAA	c.(58-63)gtgaag>gtg	p.K23del	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	23					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AGACTCCCGTGAAGAAGAAGGCC	0.65														3	0.000599042	0	0.0043	5008	,	,		14947	0		0	False		,,,				2504	0																0										3,4135		0,3,2066						4.3	1			45	0,8162		0,0,4081	no	coding	HIST1H1E	NM_005321.2		0,3,6147	A1A1,A1R,RR		0.0,0.0725,0.0244				3,12297				SO:0001651	inframe_deletion	0			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.60_62delGAA	6.37:g.26156684_26156686delGAA	ENSP00000307705:p.Lys23del		Q4VB25	In_Frame_Del	DEL	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K23in_frame_del	ENST00000304218.3	37	c.60_62	CCDS4586.1	6																																																																																			HIST1H1E	-	prints_Histone_H5	ENSG00000168298		0.65	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1		0	56	0	GAA	NM_005321		26156680	1	tier1		no_errors	ENST00000304218	ensembl	human	known	74_37	in_frame_del	42.50	23	17	DEL	0.932:0.994:0.999	-	-	26156680	GAA	-	26156678	7	5	158	1	0	1	0	1	0	0	0	0	7153	1277	45	0	62	0	HIST1H1E	6	26156678	In_Frame_Del	DEL	GAA	TCGA-V5-AASV-01A-11D-A387-09	24545709	26156678	144958389	77	40150											
ANKS1A	23294	genome.wustl.edu	37	chr6	35050978	35050978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tctgcgagggacagaatccaCgcaagacgcctgtgccaaga	12	5	12	12	3	1	3	0	0	1	3	2	5	2	4	3	1	2	1	3	1	3	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:35050978C>T	ENST00000360359.3	+	19	3020	c.2882C>T	c.(2881-2883)aCg>aTg	p.T961M	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	961	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACAGAATCCACGCAAGACGCC	0.617																																																	0													71	60	63					6																	35050978		2203	4300	6503	SO:0001583	missense	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2882C>T	6.37:g.35050978C>T	ENSP00000353518:p.Thr961Met		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.T961M	ENST00000360359.3	37	c.2882	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002085	0.74932	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	T	0.14893	2.47	4.48	2.72	0.32119	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.50627	D	0.000107	T	0.28499	0.0705	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.982;0.989;0.997	T	0.07986	-1.0744	10	0.87932	D	0	-11.5558	10.4461	0.44495	0.0:0.8424:0.0:0.1576	.	287;287;961	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	M	961;287	ENSP00000353518:T961M	ENSP00000353518:T961M	T	+	2	0	ANKS1A	35158956	1.000000	0.71417	0.549000	0.28204	0.909000	0.53808	4.814000	0.62627	0.532000	0.28657	0.609000	0.83330	ACG	ANKS1A	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000064999		0.617	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1		0	26	0	C	XM_166478		35050978	1			no_errors	ENST00000360359	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	35050978	C	T	35050978	3	4	158	1	0	0	0	0	1	0	0	0	688	536	19	1	2956	1	ANKS1A	6	35050978	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	8894300	35050978	136064089	78	40151											
KCNK5	8645	genome.wustl.edu	37	chr6	39163742	39163742	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccctgtgatggccacaccctGtcctgcagcatcagatacca	9	8	8	16	0	1	2	1	1	0	1	2	2	2	2	5	1	3	2	5	1	1	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:39163742G>T	ENST00000359534.3	-	2	546	c.208C>A	c.(208-210)Cag>Aag	p.Q70K		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	70					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						GCCACACCCTGTCCTGCAGCA	0.473																																																	0													129	112	118					6																	39163742		2203	4300	6503	SO:0001583	missense	0			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.208C>A	6.37:g.39163742G>T	ENSP00000352527:p.Gln70Lys		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.Q70K	ENST00000359534.3	37	c.208	CCDS4841.1	6	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129372	0.77549	.	.	ENSG00000164626	ENST00000359534	T	0.19394	2.15	5.47	4.59	0.56863	.	0.051977	0.85682	D	0.000000	T	0.05868	0.0153	N	0.12637	0.245	0.80722	D	1	B	0.10296	0.003	B	0.19946	0.027	T	0.17258	-1.0375	10	0.22706	T	0.39	.	16.5721	0.84615	0.0:0.1306:0.8694:0.0	.	70	O95279	KCNK5_HUMAN	K	70	ENSP00000352527:Q70K	ENSP00000352527:Q70K	Q	-	1	0	KCNK5	39271720	1.000000	0.71417	0.946000	0.38457	0.986000	0.74619	5.132000	0.64758	1.412000	0.46977	0.561000	0.74099	CAG	KCNK5	-	NULL	ENSG00000164626		0.473	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	-	0	71	0	G	NM_003740		39163742	-1	tier1	-	no_errors	ENST00000359534	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.999	T	T	39163742	G	T	39163742	3	4	158	1	0	0	0	0	1	0	0	0	8096	1386	48	3	1307	3	KCNK5	6	39163742	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	4112764	39163742	131951325	79	40152											
MDFI	4188	genome.wustl.edu	37	chr6	41621140	41621140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggactgcgccacctgtGgctcctgcagctcggaggac	5	8	13	15	2	0	0	0	0	0	0	3	3	2	3	4	4	3	3	4	4	0	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:41621140G>T	ENST00000373050.4	+	4	572	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C				Q99750	MDFI_HUMAN	MyoD family inhibitor	190					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G190C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CGCCACCTGTGGCTCCTGCAG	0.657																																																	1	Substitution - Missense(1)	skin(1)											107	83	91					6																	41621140		2203	4300	6503	SO:0001583	missense	0			U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"inhibitor of MyoD family a"	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.385G>T	6.37:g.41621140G>T	ENSP00000362141:p.Gly129Cys			Missense_Mutation	SNP	NULL	p.G190C	ENST00000373050.4	37	c.568		6	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424417	0.83667	.	.	ENSG00000112559	ENST00000432027;ENST00000419164;ENST00000373051;ENST00000230321;ENST00000543326;ENST00000373050;ENST00000435476	.	.	.	5.1	5.1	0.69264	.	0.059016	0.64402	D	0.000002	T	0.72748	0.3499	M	0.78456	2.415	0.51482	D	0.999927	D	0.65815	0.995	P	0.59288	0.855	T	0.77073	-0.2723	9	0.66056	D	0.02	-3.9219	18.1318	0.89604	0.0:0.0:1.0:0.0	.	190	Q99750	MDFI_HUMAN	C	190;190;190;190;190;129;129	.	ENSP00000230321:G190C	G	+	1	0	MDFI	41729118	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.577000	0.67444	2.371000	0.80710	0.555000	0.69702	GGC	MDFI	-	NULL	ENSG00000112559		0.657	MDFI-002	NOVEL	basic	protein_coding	MDFI	HGNC	protein_coding	OTTHUMT00000040519.2		0	37	0	G	NM_005586		41621140	1			no_errors	ENST00000230321	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	41621140	G	T	41621140	3	4	158	1	0	0	0	0	1	0	0	0	9442	1348	47	3	582	3	MDFI	6	41621140	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	2457398	41621140	129493927	80	40153											
POLR1C	9533	genome.wustl.edu	37	chr6	43487822	43487825	+	Frame_Shift_Del	DEL	AGAT	AGAT	-																															aggagatgaagaaggcacagAgatagatactctacagtttc																								rs371870708		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGAT	AGAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:43487822_43487825delAGAT	ENST00000372389.3	+	5	489_492	c.401_404delAGAT	c.(400-405)gagatafs	p.EI134fs	POLR1C_ENST00000304004.3_Frame_Shift_Del_p.EI134fs|POLR1C_ENST00000372344.2_Frame_Shift_Del_p.EI134fs|RP3-337H4.9_ENST00000607571.1_RNA	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	134					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GAAGGCACAGAGATAGATACTCTA	0.48																																																	0																																										SO:0001589	frameshift_variant	0			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.401_404delAGAT	6.37:g.43487826_43487829delAGAT	ENSP00000361465:p.Glu134fs		O75395|Q5JTE3	Frame_Shift_Del	DEL	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.D136fs	ENST00000372389.3	37	c.401_404	CCDS4901.1	6																																																																																			POLR1C	-	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000171453		0.48	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3		0	62	0	AGAT	NM_004875		43487825	1	tier1		no_errors	ENST00000372389	ensembl	human	known	74_37	frame_shift_del	26.87	49	18	DEL	1.000:0.999:1.000:1.000	-	-	43487825	AGAT	-	43487822	7	5	158	1	0	1	0	1	0	0	0	0	12250	304	11	0	419	0	POLR1C	6	43487822	Frame_Shift_Del	DEL	AGAT	TCGA-V5-AASV-01A-11D-A387-09	1866682	43487822	127627245	81	40154											
AARS2	57505	genome.wustl.edu	37	chr6	44272859	44272859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cagttgggggcactccttggCgctgcagctccccaagcgca	6	7	13	15	2	0	0	0	0	0	0	2	0	2	0	3	3	3	6	3	3	1	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:44272859C>T	ENST00000244571.4	-	11	1513	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.R504H(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)			CACTCCTTGGCGCTGCAGCTC	0.627											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)											105	95	98					6																	44272859		2203	4300	6503	SO:0001583	missense	0			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.1511G>A	6.37:g.44272859C>T	ENSP00000244571:p.Arg504His	922		Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.R504H	ENST00000244571.4	37	c.1511	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428981	0.43122	.	.	ENSG00000124608	ENST00000244571	T	0.72051	-0.62	5.01	0.081	0.14423	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);	0.185095	0.45606	N	0.000360	T	0.32376	0.0827	N	0.25332	0.735	0.09310	N	1	B	0.24317	0.101	B	0.17433	0.018	T	0.28299	-1.0048	10	0.39692	T	0.17	-3.2804	9.8334	0.40956	0.0:0.6535:0.0:0.3465	.	504	Q5JTZ9	SYAM_HUMAN	H	504	ENSP00000244571:R504H	ENSP00000244571:R504H	R	-	2	0	AARS2	44380837	0.000000	0.05858	0.875000	0.34327	0.827000	0.46813	-0.054000	0.11826	-0.048000	0.13401	-0.170000	0.13304	CGC	AARS2	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000124608		0.627	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2		0	39	0	C	NM_020745		44272859	-1			no_errors	ENST00000244571	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.015	T	T	44272859	C	T	44272859	3	4	158	1	0	0	0	0	1	0	0	0	20	768	27	1	1494	1	AARS2	6	44272859	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	785037	44272859	126842208	82	40155											
TFAP2B	7021	genome.wustl.edu	37	chr6	50791203	50791203	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccctactcgagcgccccGccgctgtcccacaccccgtc	5	5	9	22	5	0	0	0	0	0	0	3	2	1	1	7	1	2	1	7	1	1	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:50791203G>A	ENST00000393655.3	+	2	334	c.165G>A	c.(163-165)ccG>ccA	p.P55P	TFAP2B_ENST00000263046.4_Silent_p.P64P|TFAP2B_ENST00000489228.1_3'UTR	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	55	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)					CGAGCGCCCCGCCGCTGTCCC	0.706																																					Pancreas(116;1373 2332 5475 10752)												0													27	33	31					6																	50791203		2201	4299	6500	SO:0001819	synonymous_variant	0			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.165G>A	6.37:g.50791203G>A			Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.P64	ENST00000393655.3	37	c.192	CCDS4934.2	6																																																																																			TFAP2B	-	NULL	ENSG00000008196		0.706	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	-	0	48	0	G	NM_003221		50791203	1	tier1	-	no_errors	ENST00000263046	ensembl	human	known	74_37	silent	37.25	32	19	SNP	0.935	A	A	50791203	G	A	50791203	2	1	158	1	0	0	0	0	0	0	0	1	15835	1074	38	1		1	TFAP2B	6	50791203	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	6518344	50791203	120323864	83	40156											
PAQR8	85315	genome.wustl.edu	37	chr6	52268714	52268714	+	Missense_Mutation	SNP	T	T	G	0	1	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	tggcacaccgtgtggcgctcTgtcacctggctggctgccag	4	9	14	14	2	2	0	1	0	1	0	2	0	2	0	3	4	1	4	3	4	0	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:52268714T>G	ENST00000442253.2	+	2	877	c.703T>G	c.(703-705)Tgt>Ggt	p.C235G	PAQR8_ENST00000360726.3_Missense_Mutation_p.C235G	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	235					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TGTGGCGCTCTGTCACCTGGC	0.577																																																	0													89	85	86					6																	52268714		2203	4300	6503	SO:0001583	missense	0			AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.703T>G	6.37:g.52268714T>G	ENSP00000406197:p.Cys235Gly		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	pfam_HlyIII-related,superfamily_C-type_lectin_fold	p.C235G	ENST00000442253.2	37	c.703	CCDS4941.1	6	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617785	0.46736	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.29917	1.55;1.55	5.54	5.54	0.83059	.	0.055760	0.64402	D	0.000001	T	0.32010	0.0815	M	0.77313	2.365	0.49213	D	0.999768	P	0.39624	0.681	P	0.45232	0.474	T	0.11036	-1.0604	9	.	.	.	-10.4064	14.8592	0.70366	0.0:0.0:0.0:1.0	.	235	Q8TEZ7	MPRB_HUMAN	G	235	ENSP00000406197:C235G;ENSP00000353953:C235G	.	C	+	1	0	PAQR8	52376673	0.978000	0.34361	0.979000	0.43373	0.992000	0.81027	1.941000	0.40233	2.109000	0.64355	0.533000	0.62120	TGT	PAQR8	-	pfam_HlyIII-related	ENSG00000170915		0.577	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR8	HGNC	protein_coding	OTTHUMT00000040903.2	-	0	22	0	T	NM_133367		52268714	1	tier1	-	no_errors	ENST00000360726	ensembl	human	known	74_37	missense	48.57	18	17	SNP	1.000	G	G	52268714	T	G	52268714	3	3	158	1	0	0	0	0	1	0	0	0	11480	1580	55	4	705	4	PAQR8	6	52268714	Missense_Mutation	SNP	T	TCGA-V5-AASV-01A-11D-A387-09	1477511	52268714	118846353	84	40157											
FAM83B	222584	genome.wustl.edu	37	chr6	54791310	54791310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaatatgactgagaaacaaGgttgttcagttcagcgtctc	13	12	9	7	1	3	2	2	2	1	1	4	3	3	2	0	1	2	3	0	1	5	5			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:54791310G>A	ENST00000306858.7	+	3	702	c.586G>A	c.(586-588)Ggt>Agt	p.G196S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	196										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGAGAAACAAGGTTGTTCAGT	0.343																																																	0																																										SO:0001583	missense	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.586G>A	6.37:g.54791310G>A	ENSP00000304078:p.Gly196Ser		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.G196S	ENST00000306858.7	37	c.586	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649015	0.67358	.	.	ENSG00000168143	ENST00000306858	T	0.11169	2.8	5.35	2.6	0.31112	.	0.301266	0.35903	N	0.002904	T	0.03608	0.0103	L	0.52364	1.645	0.41738	D	0.98959	B	0.25441	0.126	B	0.26614	0.071	T	0.32052	-0.9921	10	0.24483	T	0.36	-7.0849	8.008	0.30336	0.1386:0.0:0.7312:0.1302	.	196	Q5T0W9	FA83B_HUMAN	S	196	ENSP00000304078:G196S	ENSP00000304078:G196S	G	+	1	0	FAM83B	54899269	1.000000	0.71417	0.926000	0.36857	0.846000	0.48090	5.450000	0.66626	0.248000	0.21435	-0.251000	0.11542	GGT	FAM83B	-	pfam_DUF1669	ENSG00000168143		0.343	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	-	0	60	0	G	XM_294139		54791310	1	tier1	-	no_errors	ENST00000306858	ensembl	human	known	74_37	missense	26.92	38	14	SNP	0.956	A	A	54791310	G	A	54791310	3	1	158	1	0	0	0	0	1	0	0	0	5656	1000	35	3	592	3	FAM83B	6	54791310	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	2522596	54791310	116323757	85	40158											
BCKDHB	594	genome.wustl.edu	37	chr6	80880998	80880998	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaaatctgtttttgcaGgtggttatacccagaagccc	13	12	8	8	0	1	1	0	0	1	1	1	1	1	1	2	2	3	3	2	2	7	5			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:80880998G>A	ENST00000320393.6	+	6	680		c.e6-1		BCKDHB_ENST00000356489.5_Splice_Site|BCKDHB_ENST00000545529.1_Splice_Site	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TGTTTTTGCAGGTGGTTATAC	0.313																																																	0													27	31	30					6																	80880998		2203	4298	6501	SO:0001630	splice_region_variant	0			M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"maple syrup urine disease"	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.634-1G>A	6.37:g.80880998G>A			Q5T2J3|Q9BQL0	Splice_Site	SNP	-	e6-1	ENST00000320393.6	37	c.634-1	CCDS4994.1	6	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405806	0.83230	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.742	0.91777	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCKDHB	80937717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.938000	0.92943	2.690000	0.91761	0.655000	0.94253	.	BCKDHB	-	-	ENSG00000083123		0.313	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHB	HGNC	protein_coding	OTTHUMT00000043911.2	-	0	181	0	G	NM_000056	Intron	80880998	1	tier1	-	no_errors	ENST00000320393	ensembl	human	known	74_37	splice_site	27.46	176	67	SNP	1.000	A	A	80880998	G	A	80880998	5	1	158	1	0	0	0	0	0	0	1	0	1361	1014	35	3	655	3	BCKDHB	6	80880998	Splice_Site	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	26089688	80880998	90234069	86	40159											
MANEA	79694	genome.wustl.edu	37	chr6	96044631	96044631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtactagccctctcttGgtacccacctgatgtaaatg	9	12	9	11	0	1	1	0	1	1	0	2	1	1	1	3	2	3	3	3	2	5	5			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:96044631G>T	ENST00000358812.4	+	3	697	c.563G>T	c.(562-564)tGg>tTg	p.W188L	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	188	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)		GCCCTCTCTTGGTACCCACCT	0.348																																																	0													180	164	169					6																	96044631		2203	4299	6502	SO:0001583	missense	0			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.563G>T	6.37:g.96044631G>T	ENSP00000351669:p.Trp188Leu		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.W188L	ENST00000358812.4	37	c.563	CCDS5032.1	6	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806292	0.70682	.	.	ENSG00000172469	ENST00000358812	.	.	.	5.74	5.74	0.90152	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83778	0.5328	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85436	0.1152	9	0.56958	D	0.05	-4.816	18.9103	0.92481	0.0:0.0:1.0:0.0	.	188	Q5SRI9	MANEA_HUMAN	L	188	.	ENSP00000351669:W188L	W	+	2	0	MANEA	96151352	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.329000	0.96413	2.716000	0.92895	0.650000	0.86243	TGG	MANEA	-	superfamily_Glycoside_hydrolase_SF	ENSG00000172469		0.348	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	HGNC	protein_coding	OTTHUMT00000043644.1		0	24	0	G	NM_024641		96044631	1			no_errors	ENST00000358812	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	96044631	G	T	96044631	3	4	158	1	0	0	0	0	1	0	0	0	9259	1357	47	3	569	3	MANEA	6	96044631	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	15163633	96044631	75070436	87	40160											
SIM1	6492	genome.wustl.edu	37	chr6	100838305	100838305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctggttgcatcctcaGatgggaagttacatcaaagt	10	12	12	7	0	3	1	2	0	1	1	4	2	4	2	1	3	2	3	1	3	3	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:100838305G>T	ENST00000369208.3	-	12	3015	c.2233C>A	c.(2233-2235)Ctg>Atg	p.L745M	SIM1_ENST00000262901.4_Missense_Mutation_p.L745M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	745	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGCATCCTCAGATGGGAAGTT	0.413																																																	0													171	161	165					6																	100838305		2203	4300	6503	SO:0001583	missense	0			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.2233C>A	6.37:g.100838305G>T	ENSP00000358210:p.Leu745Met		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.L745M	ENST00000369208.3	37	c.2233	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522131	0.44866	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.05382	3.45;3.45	6.1	5.13	0.70059	Single-minded, C-terminal (1);	0.133386	0.52532	D	0.000070	T	0.01800	0.0057	N	0.24115	0.695	0.49051	D	0.999749	B	0.28082	0.2	B	0.24701	0.055	T	0.48281	-0.9049	10	0.35671	T	0.21	.	7.1318	0.25507	0.2259:0.0:0.7741:0.0	.	745	P81133	SIM1_HUMAN	M	745	ENSP00000358210:L745M;ENSP00000262901:L745M	ENSP00000262901:L745M	L	-	1	2	SIM1	100945026	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.950000	0.29122	2.902000	0.99343	0.650000	0.86243	CTG	SIM1	-	NULL	ENSG00000112246		0.413	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	-	0	89	0	G	NM_005068		100838305	-1	tier1	-	no_errors	ENST00000262901	ensembl	human	known	74_37	missense	33.01	69	34	SNP	1.000	T	T	100838305	G	T	100838305	3	4	158	1	0	0	0	0	1	0	0	0	14368	933	33	3	71	3	SIM1	6	100838305	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	4793674	100838305	70276762	88	40161											
PNLDC1	154197	genome.wustl.edu	37	chr6	160225082	160225082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccttccaggcttccagtGttcagtttttgaatcagtat	7	17	7	10	0	3	1	2	1	1	0	6	1	5	1	3	1	0	4	3	1	2	6			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:160225082G>T	ENST00000610273.1	+	5	472	c.301G>T	c.(301-303)Gtt>Ttt	p.V101F	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Missense_Mutation_p.V112F	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	101						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGCTTCCAGTGTTCAGTTTTT	0.403																																																	0													150	154	152					6																	160225082		2203	4300	6503	SO:0001583	missense	0			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.301G>T	6.37:g.160225082G>T	ENSP00000476448:p.Val101Phe		Q5TAP7|Q8N7X5	Missense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.V101F	ENST00000610273.1	37	c.301	CCDS5271.1	6	.	.	.	.	.	.	.	.	.	.	G	15.78	2.932986	0.52866	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.26067	1.76;1.76	5.61	2.49	0.30216	Ribonuclease H-like (1);	0.102938	0.41712	D	0.000839	T	0.11410	0.0278	L	0.39147	1.195	0.39053	D	0.960379	P;B	0.49090	0.919;0.316	P;B	0.46275	0.51;0.235	T	0.03875	-1.0996	10	0.59425	D	0.04	.	5.1254	0.14882	0.445:0.0:0.555:0.0	.	112;101	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	F	101;112	ENSP00000275275:V101F;ENSP00000376007:V112F	ENSP00000275275:V101F	V	+	1	0	PNLDC1	160145072	1.000000	0.71417	0.952000	0.39060	0.998000	0.95712	3.237000	0.51344	0.743000	0.32719	0.655000	0.94253	GTT	PNLDC1	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	ENSG00000146453		0.403	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding		-	0	63	0	G	NM_173516		160225082	1	tier1	-	no_errors	ENST00000610273	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.998	T	T	160225082	G	T	160225082	3	4	158	1	0	0	0	0	1	0	0	0	12187	1377	48	3	315	3	PNLDC1	6	160225082	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	59386777	160225082	10889985	89	40162											
BRP44L	51660	genome.wustl.edu	37	chr6	166779523	166779523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatttgttgcgtggcatgCaaacagaagccagttccgag	10	11	11	9	2	1	1	1	0	0	1	2	2	2	1	2	1	4	4	2	1	2	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr6:166779523C>T	ENST00000360961.6	-	4	365	c.244G>A	c.(244-246)Gca>Aca	p.A82T	MPC1_ENST00000341756.6_Missense_Mutation_p.A82T|MPC1_ENST00000487218.1_5'UTR	NM_001270879.1|NM_016098.3	NP_001257808.1|NP_057182.1	Q9Y5U8	MPC1_HUMAN	mitochondrial pyruvate carrier 1	82					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	pyruvate transmembrane transporter activity (GO:0050833)										GCGTGGCATGCAAACAGAAGC	0.443																																																	0													89	82	84					6																	166779523		2203	4300	6503	SO:0001583	missense	0			AF125101	CCDS5293.1, CCDS75547.1	6q27	2012-08-01	2012-07-30	2012-07-30	ENSG00000060762	ENSG00000060762			21606	protein-coding gene	gene with protein product		614738	"brain protein 44-like"	BRP44L		22628558	Standard	NM_016098		Approved	dJ68L15.3, CGI-129	uc031sra.1	Q9Y5U8	OTTHUMG00000015999	ENST00000360961.6:c.244G>A	6.37:g.166779523C>T	ENSP00000354223:p.Ala82Thr		B2R5I7|Q5TI66|Q9HB67|Q9UQN4	Missense_Mutation	SNP	pfam_MPC	p.A82T	ENST00000360961.6	37	c.244	CCDS5293.1	6	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221262	0.79464	.	.	ENSG00000060762	ENST00000360961;ENST00000341756;ENST00000392123	T;T	0.72505	-0.66;-0.66	5.93	5.93	0.95920	.	0.137747	0.64402	D	0.000003	T	0.73590	0.3606	M	0.86651	2.83	0.80722	D	1	B	0.31790	0.34	B	0.38683	0.279	T	0.75172	-0.3411	10	0.52906	T	0.07	-7.7894	17.8477	0.88736	0.0:1.0:0.0:0.0	.	82	Q9Y5U8	BR44L_HUMAN	T	82;82;39	ENSP00000354223:A82T;ENSP00000340784:A82T	ENSP00000340784:A82T	A	-	1	0	BRP44L	166699513	1.000000	0.71417	0.027000	0.17364	0.557000	0.35523	7.002000	0.76304	2.826000	0.97356	0.655000	0.94253	GCA	MPC1	-	pfam_MPC	ENSG00000060762		0.443	MPC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPC1	HGNC	protein_coding	OTTHUMT00000043052.1	-	0	57	0	C	NM_016098		166779523	-1	tier1	-	no_errors	ENST00000341756	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.976	T	T	166779523	C	T	166779523	3	4	158	1	0	0	0	0	1	0	0	0	1523	710	25	3	93	3	BRP44L	6	166779523	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	6554441	166779523	4335544	90	40163											
CARD11	84433	genome.wustl.edu	37	chr7	2956937	2956937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttacctgaaggagctggCcaaaaaggaagcttgctcgc	11	7	12	11	1	0	1	0	1	0	0	1	3	0	3	3	3	4	3	3	3	5	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:2956937C>A	ENST00000396946.4	-	20	3093	c.2690G>T	c.(2689-2691)gGc>gTc	p.G897V		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	897					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AAGGAGCTGGCCAAAAAGGAA	0.542			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													38	50	46					7																	2956937		2203	4300	6503	SO:0001583	missense	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2690G>T	7.37:g.2956937C>A	ENSP00000380150:p.Gly897Val		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.G897V	ENST00000396946.4	37	c.2690	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686278	0.29962	.	.	ENSG00000198286	ENST00000396946	T	0.30981	1.51	4.99	4.99	0.66335	.	0.132836	0.51477	D	0.000082	T	0.23727	0.0574	L	0.29908	0.895	0.80722	D	1	P	0.45902	0.868	B	0.37692	0.256	T	0.03555	-1.1025	10	0.42905	T	0.14	-37.0122	16.4485	0.83972	0.0:1.0:0.0:0.0	.	897	Q9BXL7	CAR11_HUMAN	V	897	ENSP00000380150:G897V	ENSP00000380150:G897V	G	-	2	0	CARD11	2923463	0.988000	0.35896	0.982000	0.44146	0.875000	0.50365	2.563000	0.45922	2.308000	0.77769	0.561000	0.74099	GGC	CARD11	-	NULL	ENSG00000198286		0.542	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	-	0	80	0	C	NM_032415		2956937	-1	tier1	-	no_errors	ENST00000396946	ensembl	human	known	74_37	missense	5.71	99	6	SNP	0.986	A	A	2956937	C	A	2956937	3	1	158	1	0	0	0	0	1	0	0	0	2652	739	26	3	798	3	CARD11	7	2956937	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09		2956937	156181726	91	40164											
ZNF12	7559	genome.wustl.edu	37	chr7	6731402	6731404	+	In_Frame_Del	DEL	AGA	AGA	-																															attaagtgctgacttctgcgAgaaggttttcccacagtcat																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:6731402_6731404delAGA	ENST00000405858.1	-	5	1710_1712	c.1169_1171delTCT	c.(1168-1173)ttctcg>tcg	p.F390del	ZNF12_ENST00000342651.5_In_Frame_Del_p.F352del|ZNF12_ENST00000404360.1_In_Frame_Del_p.F316del|AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	390					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)		GACTTCTGCGAGAAGGTTTTCCC	0.429																																																	0																																										SO:0001651	inframe_deletion	0			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.1169_1171delTCT	7.37:g.6731402_6731404delAGA	ENSP00000385939:p.Phe390del		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	In_Frame_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F390in_frame_del	ENST00000405858.1	37	c.1171_1169	CCDS47538.1	7																																																																																			ZNF12	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164631		0.429	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2		0	49	0	AGA	NM_016265		6731404	-1	tier1		no_errors	ENST00000405858	ensembl	human	known	74_37	in_frame_del	15.85	69	13	DEL	0.729:0.801:0.993	-	-	6731404	AGA	-	6731402	7	5	158	1	0	1	0	1	0	0	0	0	17766	304	11	0	926	0	ZNF12	7	6731402	In_Frame_Del	DEL	AGA	TCGA-V5-AASV-01A-11D-A387-09	3774465	6731402	152407261	92	40165											
PCLO	27445	genome.wustl.edu	37	chr7	82584500	82584500	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttgtatttgtgtgttttAtgcatcatttcttcatacat	7	22	6	6	0	3	0	2	0	1	0	3	0	3	0	0	0	2	4	0	0	3	8			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:82584500A>G	ENST00000333891.9	-	5	6106	c.5769T>C	c.(5767-5769)caT>caC	p.H1923H	PCLO_ENST00000423517.2_Silent_p.H1923H	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						TGTGTGTTTTATGCATCATTT	0.358																																																	0													57	55	55					7																	82584500		1870	4097	5967	SO:0001819	synonymous_variant	0			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.5769T>C	7.37:g.82584500A>G				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.H1923	ENST00000333891.9	37	c.5769	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	42	0	A	NM_014510		82584500	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	25.77	72	25	SNP	0.339	G	G	82584500	A	G	82584500	2	3	158	1	0	0	0	0	0	0	0	1	11622	446	16	4		4	PCLO	7	82584500	Silent	SNP	A	TCGA-V5-AASV-01A-11D-A387-09	75853098	82584500	76554163	93	40166											
GRM3	2913	genome.wustl.edu	37	chr7	86415818	86415818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagcaggaagcccgcctgcGcaacatctgcatcgctacgg	9	5	12	15	5	1	0	0	0	1	0	2	2	1	1	2	2	6	4	2	2	3	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:86415818G>A	ENST00000361669.2	+	3	1809	c.710G>A	c.(709-711)cGc>cAc	p.R237H	GRM3_ENST00000394720.2_Missense_Mutation_p.R235H|GRM3_ENST00000536043.1_Missense_Mutation_p.R109H|GRM3_ENST00000439827.1_Missense_Mutation_p.R237H|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	237					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)	p.R237P(1)		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)					GCCCGCCTGCGCAACATCTGC	0.607																																					GBM(52;969 1098 3139 52280)												1	Substitution - Missense(1)	lung(1)											52	51	51					7																	86415818		2203	4300	6503	SO:0001583	missense	0				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.710G>A	7.37:g.86415818G>A	ENSP00000355316:p.Arg237His		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.R237H	ENST00000361669.2	37	c.710	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699764	0.68501	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.82825	0.5121	L	0.56199	1.76	0.80722	D	1	B;P;P	0.51537	0.401;0.946;0.455	B;B;B	0.40825	0.146;0.341;0.228	T	0.81848	-0.0744	10	0.29301	T	0.29	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	109;237;237	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	H	237;109;109;237;235	ENSP00000355316:R237H;ENSP00000405427:R109H;ENSP00000441407:R109H;ENSP00000398767:R237H;ENSP00000378209:R235H	ENSP00000355316:R237H	R	+	2	0	GRM3	86253754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.756000	0.98918	2.711000	0.92665	0.655000	0.94253	CGC	GRM3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000198822		0.607	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2		0	36	0	G			86415818	1			no_errors	ENST00000361669	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	A	A	86415818	G	A	86415818	3	1	158	1	0	0	0	0	1	0	0	0	6825	1087	38	1	716	1	GRM3	7	86415818	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	3831318	86415818	72722845	94	40167											
PPP1R9A	55607	genome.wustl.edu	37	chr7	94855331	94855331	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aggacctgtccttcctggcaGcgacatggccattgaagtct	8	10	11	12	1	1	1	0	1	1	0	3	3	3	2	4	3	1	1	4	3	1	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:94855331G>T	ENST00000433881.1	+	7	2481	c.1949G>T	c.(1948-1950)aGc>aTc	p.S650I	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S672I|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.S650I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S650I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S650I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S650I			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	650	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTCCTGGCAGCGACATGGCC	0.483										HNSCC(28;0.073)																																							0													135	111	119					7																	94855331		2203	4300	6503	SO:0001583	missense	0			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.1949G>T	7.37:g.94855331G>T	ENSP00000398870:p.Ser650Ile		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.S650I	ENST00000433881.1	37	c.1949	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907748	0.52333	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.16073	2.37;2.45;2.42;2.45;2.44;2.42	5.12	5.12	0.69794	.	0.566233	0.21211	N	0.078301	T	0.14141	0.0342	N	0.14661	0.345	0.32182	N	0.580249	B;P;B;B;B	0.39094	0.158;0.659;0.051;0.412;0.133	B;B;B;B;B	0.42030	0.065;0.373;0.022;0.084;0.069	T	0.04767	-1.0928	10	0.18276	T	0.48	.	19.1381	0.93436	0.0:0.0:1.0:0.0	.	650;650;672;650;650	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	I	672;650;650;650;650;650	ENSP00000405514:S672I;ENSP00000344524:S650I;ENSP00000411342:S650I;ENSP00000398870:S650I;ENSP00000289495:S650I;ENSP00000402893:S650I	ENSP00000289495:S650I	S	+	2	0	PPP1R9A	94693267	1.000000	0.71417	0.823000	0.32752	0.110000	0.19582	5.820000	0.69250	2.836000	0.97738	0.655000	0.94253	AGC	PPP1R9A	-	NULL	ENSG00000158528		0.483	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	-	0	40	0	G	NM_001166160		94855331	1	tier1	-	no_errors	ENST00000289495	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.801	T	T	94855331	G	T	94855331	3	4	158	1	0	0	0	0	1	0	0	0	12420	971	34	3	2041	3	PPP1R9A	7	94855331	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	8439513	94855331	64283332	95	40168											
FOXP2	93986	genome.wustl.edu	37	chr7	114329835	114329835	+	Splice_Site	SNP	A	A	T	1	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	ggtgtatctacatgtttttcAgacattcaatccacgtcaag	11	14	7	9	1	4	1	3	0	1	1	5	1	5	1	1	1	1	2	1	1	4	5			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:114329835A>T	ENST00000393494.2	+	17	2282		c.e17-1		FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393498.2_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						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						CATGTTTTTCAGACATTCAAT	0.403																																																	0													83	71	75					7																	114329835		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2004-1A>T	7.37:g.114329835A>T			A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	SNP	-	e17-2	ENST00000393494.2	37	c.2079-2	CCDS5760.1	7	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399564	0.62177	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4447	0.83919	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FOXP2	114117071	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.284000	0.76573	0.528000	0.53228	.	FOXP2	-	-	ENSG00000128573		0.403	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	FOXP2	HGNC	protein_coding	OTTHUMT00000317366.1	-	0	41	0	A	NM_014491	Intron	114329835	1	tier1	-	no_errors	ENST00000408937	ensembl	human	known	74_37	splice_site	29.09	39	16	SNP	1.000	T	T	114329835	A	T	114329835	5	4	158	1	0	0	0	0	0	0	1	0	6051	202	7	5	2231	5	FOXP2	7	114329835	Splice_Site	SNP	A	TCGA-V5-AASV-01A-11D-A387-09	19474504	114329835	44808828	96	40169											
KCND2	3751	genome.wustl.edu	37	chr7	120387853	120387853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaccacaccagaaggagacGataggccagaatcccctgag	15	4	10	12	1	0	4	0	1	0	3	1	6	1	4	5	2	1	0	5	2	4	2	rs151258092		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:120387853G>A	ENST00000331113.4	+	6	2799	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	612					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGAAGGAGACGATAGGCCAGA	0.428																																																	0								G	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	82	72	75		1834	5.5	1	7	dbSNP_134	75	0,8600		0,0,4300	no	missense	KCND2	NM_012281.2	23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	612/631	120387853	2,13004	2203	4300	6503	SO:0001583	missense	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1834G>A	7.37:g.120387853G>A	ENSP00000333496:p.Asp612Asn		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.D612N	ENST00000331113.4	37	c.1834	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632010	0.46944	4.54E-4	0.0	ENSG00000184408	ENST00000331113	D	0.96774	-4.12	5.49	5.49	0.81192	.	0.063490	0.64402	D	0.000007	D	0.91932	0.7445	N	0.22421	0.69	0.35748	D	0.819202	B	0.31949	0.348	B	0.21917	0.037	D	0.91457	0.5186	9	.	.	.	.	19.7434	0.96241	0.0:0.0:1.0:0.0	.	612	Q9NZV8	KCND2_HUMAN	N	612	ENSP00000333496:D612N	.	D	+	1	0	KCND2	120175089	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	4.704000	0.61831	2.716000	0.92895	0.591000	0.81541	GAT	KCND2	-	NULL	ENSG00000184408		0.428	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	-	0	44	0	G	NM_012281		120387853	1	tier1	rs151258092	no_errors	ENST00000331113	ensembl	human	known	74_37	missense	18.33	49	11	SNP	0.995	A	A	120387853	G	A	120387853	3	1	158	1	0	0	0	0	1	0	0	0	8046	1058	37	1	1856	1	KCND2	7	120387853	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	6058018	120387853	38750810	97	40170											
EPHB6	2051	genome.wustl.edu	37	chr7	142561730	142561730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccttcctgcagtgggacGaggtgagtgttctggacgac	6	9	16	10	2	1	1	0	1	1	0	2	5	2	3	2	4	1	2	2	4	0	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:142561730G>A	ENST00000392957.2	+	7	959	c.172G>A	c.(172-174)Gag>Aag	p.E58K	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.E58K	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	58	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)	p.E43*(1)		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)					GCAGTGGGACGAGGTGAGTGT	0.592																																																	1	Substitution - Nonsense(1)	lung(1)											119	128	125					7																	142561730		2202	4297	6499	SO:0001583	missense	0			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.172G>A	7.37:g.142561730G>A	ENSP00000376684:p.Glu58Lys		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E58K	ENST00000392957.2	37	c.172	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	35	5.493992	0.96339	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.12039	2.72;2.72	5.45	5.45	0.79879	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.45867	D	0.000331	T	0.45577	0.1349	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52124	-0.8617	10	0.87932	D	0	.	18.275	0.90080	0.0:0.0:1.0:0.0	.	58	O15197	EPHB6_HUMAN	K	58	ENSP00000376684:E58K;ENSP00000410789:E58K	ENSP00000376684:E58K	E	+	1	0	EPHB6	142271852	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	7.937000	0.87672	2.548000	0.85928	0.650000	0.86243	GAG	EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000106123		0.592	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	-	0	40	0	G			142561730	1	tier1	-	no_errors	ENST00000392957	ensembl	human	known	74_37	missense	12.66	69	10	SNP	1.000	A	A	142561730	G	A	142561730	3	1	158	1	0	0	0	0	1	0	0	0	5194	1059	37	1	182	1	EPHB6	7	142561730	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	22173877	142561730	16576933	98	40171											
PIP	5304	genome.wustl.edu	37	chr7	142832382	142832382	+	Missense_Mutation	SNP	A	A	G	1	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	agttcaaacagaattgaaagAatgcatggtggtaagtagag	17	9	12	3	0	1	4	1	1	0	3	1	4	1	4	0	2	2	4	0	2	6	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:142832382A>G	ENST00000291009.3	+	2	231	c.191A>G	c.(190-192)gAa>gGa	p.E64G		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	64					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GAATTGAAAGAATGCATGGTG	0.368																																																	0													56	50	52					7																	142832382		2203	4299	6502	SO:0001583	missense	0				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"prolactin-inducible protein"	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.191A>G	7.37:g.142832382A>G	ENSP00000291009:p.Glu64Gly		A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	pfam_SV_autoAg,pirsf_SV_autoAg	p.E64G	ENST00000291009.3	37	c.191	CCDS34768.1	7	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296363	0.40594	.	.	ENSG00000159763	ENST00000291009	T	0.17054	2.3	4.55	4.55	0.56014	.	0.000000	0.56097	D	0.000024	T	0.38506	0.1043	M	0.72894	2.215	0.34271	D	0.681063	D	0.89917	1.0	D	0.91635	0.999	T	0.55296	-0.8163	10	0.87932	D	0	.	10.4596	0.44572	1.0:0.0:0.0:0.0	.	64	P12273	PIP_HUMAN	G	64	ENSP00000291009:E64G	ENSP00000291009:E64G	E	+	2	0	PIP	142542504	1.000000	0.71417	0.834000	0.33040	0.044000	0.14063	3.829000	0.55760	2.049000	0.60858	0.528000	0.53228	GAA	PIP	-	pfam_SV_autoAg,pirsf_SV_autoAg	ENSG00000159763		0.368	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP	HGNC	protein_coding	OTTHUMT00000327089.1	-	0	53	0	A	NM_002652		142832382	1	tier1	-	no_errors	ENST00000291009	ensembl	human	known	74_37	missense	49.38	41	40	SNP	0.965	G	G	142832382	A	G	142832382	3	3	158	1	0	0	0	0	1	0	0	0	11974	246	9	4	197	4	PIP	7	142832382	Missense_Mutation	SNP	A	TCGA-V5-AASV-01A-11D-A387-09	270652	142832382	16306281	99	40172											
TMEM176B	28959	genome.wustl.edu	37	chr7	150490688	150490688	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagctcctgctgcgatcaCctgaaaagagacaccagaaa	14	5	8	14	1	1	3	1	1	0	2	2	5	2	3	4	0	3	2	4	0	3	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:150490688C>A	ENST00000447204.2	-	4	688	c.316G>T	c.(316-318)Gtg>Ttg	p.V106L	TMEM176B_ENST00000429904.2_Splice_Site_p.V106L|TMEM176B_ENST00000492607.1_Splice_Site_p.V106L|TMEM176B_ENST00000326442.5_Splice_Site_p.V106L|TMEM176B_ENST00000450753.2_Splice_Site_p.V69L|TMEM176B_ENST00000434545.1_Splice_Site_p.V106L	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	106					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)		GCTGCGATCACCTGAAAAGAG	0.527																																																	0													87	82	84					7																	150490688		2203	4300	6503	SO:0001630	splice_region_variant	0			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.316-1G>T	7.37:g.150490688C>A			B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.V106L	ENST00000447204.2	37	c.316	CCDS5908.1	7	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403656	0.42613	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.02395	4.31;4.31;4.31;4.31;4.31;4.31	4.31	4.31	0.51392	.	0.461285	0.20012	N	0.101081	T	0.03053	0.0090	N	0.22421	0.69	0.20638	N	0.999875	B;B	0.16802	0.019;0.019	B;B	0.22152	0.023;0.038	T	0.38222	-0.9671	10	0.72032	D	0.01	-6.8688	12.6827	0.56930	0.0:1.0:0.0:0.0	.	69;106	E9PAV4;Q3YBM2	.;T176B_HUMAN	L	106;106;106;106;106;69;106	ENSP00000419258:V106L;ENSP00000318409:V106L;ENSP00000410269:V106L;ENSP00000413531:V106L;ENSP00000397810:V106L;ENSP00000404831:V69L	ENSP00000318409:V106L	V	-	1	0	TMEM176B	150121621	0.990000	0.36364	0.155000	0.22561	0.007000	0.05969	2.796000	0.47869	2.120000	0.65058	0.551000	0.68910	GTG	TMEM176B	-	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	ENSG00000106565		0.527	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM176B	HGNC	protein_coding	OTTHUMT00000349204.1	-	0	27	0	C	NM_014020	Missense_Mutation	150490688	-1	tier1	-	no_errors	ENST00000326442	ensembl	human	known	74_37	missense	40.91	26	18	SNP	0.708	A	A	150490688	C	A	150490688	5	1	158	1	0	0	0	0	0	0	1	0	16140	521	18	3	512	3	TMEM176B	7	150490688	Splice_Site	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	7658306	150490688	8647975	100	40173											
PAXIP1	22976	genome.wustl.edu	37	chr7	154774989	154774989	+	Silent	SNP	T	T	A	0	1	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	ttgagggttagctggcaatcTcccccatagaacgtaaccaa	12	9	9	11	1	1	2	0	1	1	1	2	2	1	2	3	2	3	4	3	2	6	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr7:154774989T>A	ENST00000404141.1	-	5	532	c.378A>T	c.(376-378)ggA>ggT	p.G126G	PAXIP1_ENST00000397192.1_Silent_p.G126G|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	126	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				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)		GCTGGCAATCTCCCCCATAGA	0.433																																																	0													56	54	55					7																	154774989		1876	4116	5992	SO:0001819	synonymous_variant	0			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.378A>T	7.37:g.154774989T>A			O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.G126	ENST00000404141.1	37	c.378	CCDS47753.1	7																																																																																			PAXIP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000157212		0.433	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	-	0	97	0	T	NM_007349		154774989	-1	tier1	-	no_errors	ENST00000397192	ensembl	human	known	74_37	silent	20.75	84	22	SNP	0.033	A	A	154774989	T	A	154774989	2	1	158	1	0	0	0	0	0	0	0	1	11526	1538	54	5		5	PAXIP1	7	154774989	Silent	SNP	T	TCGA-V5-AASV-01A-11D-A387-09	4284301	154774989	4363674	101	40174											
CSMD1	64478	genome.wustl.edu	37	chr8	3224680	3224680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	caccgacccggtgagcctggCaacgggctcggaaaaacttc	10	5	12	14	4	0	1	0	1	0	0	2	3	0	2	3	4	3	2	3	4	3	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:3224680C>A	ENST00000520002.1	-	21	3547	c.2992G>T	c.(2992-2994)Gcc>Tcc	p.A998S	CSMD1_ENST00000537824.1_Missense_Mutation_p.A997S|CSMD1_ENST00000539096.1_Missense_Mutation_p.A997S|CSMD1_ENST00000400186.3_Missense_Mutation_p.A998S|CSMD1_ENST00000602557.1_Missense_Mutation_p.A998S|CSMD1_ENST00000542608.1_Missense_Mutation_p.A997S|CSMD1_ENST00000602723.1_Missense_Mutation_p.A998S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	998	CUB 6. {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)		GTGAGCCTGGCAACGGGCTCG	0.468																																																	0													63	63	63					8																	3224680		1860	4114	5974	SO:0001583	missense	0					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.2992G>T	8.37:g.3224680C>A	ENSP00000430733:p.Ala998Ser		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A998S	ENST00000520002.1	37	c.2992		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.54|16.54	3.152848|3.152848	0.57259|0.57259	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.18810|.	2.19;2.19;2.19;2.19;2.19|.	5.22|5.22	5.22|5.22	0.72569|0.72569	CUB (5);|.	0.070978|.	0.56097|.	D|.	0.000038|.	T|T	0.71239|0.71239	0.3316|0.3316	L|L	0.55481|0.55481	1.735|1.735	0.54753|0.54753	D|D	0.999986|0.999986	D;P;D|.	0.76494|.	0.999;0.898;0.987|.	D;P;D|.	0.83275|.	0.996;0.719;0.961|.	T|T	0.68629|0.68629	-0.5358|-0.5358	10|5	0.10377|.	T|.	0.69|.	.|.	18.7813|18.7813	0.91933|0.91933	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	998;998;998|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|F	998;998;860;997;997;997|477	ENSP00000383047:A998S;ENSP00000430733:A998S;ENSP00000441462:A997S;ENSP00000446243:A997S;ENSP00000441675:A997S|.	ENSP00000320445:A860S|.	A|C	-|-	1|2	0|0	CSMD1|CSMD1	3212087|3212087	0.992000|0.992000	0.36948|0.36948	0.850000|0.850000	0.33497|0.33497	0.046000|0.046000	0.14306|0.14306	3.031000|3.031000	0.49728|0.49728	2.436000|2.436000	0.82500|0.82500	0.557000|0.557000	0.71058|0.71058	GCC|TGC	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	42	0	C	NM_033225		3224680	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	34.00	33	17	SNP	0.999	A	A	3224680	C	A	3224680	3	1	158	1	0	0	0	0	1	0	0	0	3953	710	25	3	7909	3	CSMD1	8	3224680	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09		3224680	143139342	102	40175											
DLC1	10395	genome.wustl.edu	37	chr8	13357530	13357530	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaattaaaaggctgtcccatCcagtgggtcacatgttcttc	10	12	9	10	0	2	0	1	0	1	0	5	1	4	0	2	2	0	2	2	2	3	3	rs201093868		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:13357530C>T	ENST00000276297.4	-	2	460	c.51G>A	c.(49-51)tgG>tgA	p.W17*	DLC1_ENST00000316609.5_Nonsense_Mutation_p.W17*|DLC1_ENST00000511869.1_Nonsense_Mutation_p.W17*	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	17					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						GCTGTCCCATCCAGTGGGTCA	0.418																																																	0													146	140	142					8																	13357530		2203	4300	6503	SO:0001587	stop_gained	0			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.51G>A	8.37:g.13357530C>T	ENSP00000276297:p.Trp17*		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Nonsense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.W17*	ENST00000276297.4	37	c.51	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	38	6.960267	0.97964	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	.	.	.	5.53	4.6	0.57074	.	0.520434	0.14946	N	0.289206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5068	0.75748	0.1389:0.8611:0.0:0.0	.	.	.	.	X	17	.	ENSP00000276297:W17X	W	-	3	0	DLC1	13401901	1.000000	0.71417	0.804000	0.32291	0.945000	0.59286	3.994000	0.56994	2.777000	0.95525	0.655000	0.94253	TGG	DLC1	-	NULL	ENSG00000164741		0.418	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0	37	0	C	NM_182643, NM_006094		13357530	-1	tier1	-	no_errors	ENST00000276297	ensembl	human	known	74_37	nonsense	27.54	50	19	SNP	0.988	T	T	13357530	C	T	13357530	4	4	158	1	0	0	0	0	0	1	0	0	4564	856	30	3	4688	3	DLC1	8	13357530	Nonsense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	10132850	13357530	133006492	103	40176											
SH2D4A	63898	genome.wustl.edu	37	chr8	19250858	19250860	+	In_Frame_Del	DEL	CTT	CTT	-																															cactcaagaaagcaaatgaaCttcttctgagcacaggcatg																								rs149184974		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:19250858_19250860delCTT	ENST00000265807.3	+	9	1489_1491	c.1078_1080delCTT	c.(1078-1080)cttdel	p.L362del	SH2D4A_ENST00000518040.1_In_Frame_Del_p.L317del|SH2D4A_ENST00000519207.1_In_Frame_Del_p.L362del	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	362	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AGCAAATGAACTTCTTCTGAGCA	0.458																																																	0																																										SO:0001651	inframe_deletion	0			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.1078_1080delCTT	8.37:g.19250861_19250863delCTT	ENSP00000265807:p.Leu362del		B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	In_Frame_Del	DEL	pfam_SH2,smart_SH2,pfscan_SH2	p.L362in_frame_del	ENST00000265807.3	37	c.1078_1080	CCDS6009.1	8																																																																																			SH2D4A	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000104611		0.458	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D4A	HGNC	protein_coding	OTTHUMT00000214094.1		0	68	0	CTT	NM_022071		19250860	1	tier1		no_errors	ENST00000265807	ensembl	human	known	74_37	in_frame_del	32.61	62	30	DEL	0.962:0.910:0.510	-	-	19250860	CTT	-	19250858	7	5	158	1	0	1	0	1	0	0	0	0	14280	565	20	0	1158	0	SH2D4A	8	19250858	In_Frame_Del	DEL	CTT	TCGA-V5-AASV-01A-11D-A387-09	5893328	19250858	127113164	104	40177											
PTK2B	2185	genome.wustl.edu	37	chr8	27277410	27277412	+	Splice_Site	DEL	AGG	AGG	-																															gcctctctcttctcctctgcAggagatcatcacctccatcc																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:27277410_27277412delAGG	ENST00000397501.1	+	8	1012_1013	c.204_205delAGG	c.(202-207)cgagga>cgga	p.G69del	PTK2B_ENST00000346049.5_Splice_Site_p.G69del|PTK2B_ENST00000420218.2_Splice_Site_p.G69del|PTK2B_ENST00000544172.1_Splice_Site_p.G69del|PTK2B_ENST00000517339.1_Splice_Site_p.G69del|PTK2B_ENST00000338238.4_Splice_Site_p.G69del	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	69	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCTCCTCTGCAGGAGATCATCAC	0.557																																																	0																																										SO:0001630	splice_region_variant	0			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.205-1AGG>-	8.37:g.27277410_27277412delAGG			D3DST0|Q13475|Q14290|Q16709|Q6PID4	Splice_Site	DEL	-	e2-1	ENST00000397501.1	37	c.205-2_205-1	CCDS6057.1	8																																																																																			PTK2B	-	-	ENSG00000120899		0.557	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1		0	33	0	AGG	NM_004103	In_Frame_Del	27277412	1	tier1		no_errors	ENST00000346049	ensembl	human	known	74_37	splice_site_del	18.75	39	9	DEL	0.992:1.000:1.000	-	-	27277412	AGG	-	27277410	8	5	158	1	0	1	0	1	0	0	1	0	12806	202	7	0	209	0	PTK2B	8	27277410	Splice_Site	DEL	AGG	TCGA-V5-AASV-01A-11D-A387-09	8026552	27277410	119086612	105	40178											
PRKDC	5591	genome.wustl.edu	37	chr8	48841652	48841653	+	Splice_Site	DEL	CT	CT	-																															ataaatcatttaaaaattacCtctttgccaaatttcacaaa																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:48841652_48841653delCT	ENST00000314191.2	-	19	2194_2195	c.2138_2139delAG	c.(2137-2139)gag>g	p.E713fs	PRKDC_ENST00000338368.3_Splice_Site_p.E713fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	713					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TAAAAATTACCTCTTTGCCAAA	0.277								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0																																										SO:0001630	splice_region_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2139+1AG>-	8.37:g.48841654_48841655delCT			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E713fs	ENST00000314191.2	37	c.2139_2138		8																																																																																			PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.277	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding			0	107	0	CT	NM_001081640	Frame_Shift_Del	48841653	-1	tier1		no_errors	ENST00000314191	ensembl	human	known	74_37	frame_shift_del	18.48	150	34	DEL	1.000:1.000	-	-	48841653	CT	-	48841652	8	5	158	1	0	1	0	1	0	0	1	0	12563	695	24	0	10518	0	PRKDC	8	48841652	Splice_Site	DEL	CT	TCGA-V5-AASV-01A-11D-A387-09	21564242	48841652	97522370	106	40179											
SDCBP	6386	genome.wustl.edu	37	chr8	59484765	59484765	+	Splice_Site	SNP	T	T	C	0	1	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	ttattcatttactttttagaTctctatcccagactgtatcc	9	19	3	10	0	2	2	1	0	1	2	5	2	4	2	2	0	1	1	2	0	5	9			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:59484765T>C	ENST00000260130.4	+	4	282	c.132T>C	c.(130-132)aaT>aaC	p.N44N	SDCBP_ENST00000447267.2_Splice_Site_p.N44N|SDCBP_ENST00000523483.1_Splice_Site_p.N65N|SDCBP_ENST00000522243.1_3'UTR|SDCBP_ENST00000447182.2_Splice_Site_p.N44N|SDCBP_ENST00000422546.2_Splice_Site_p.N44N|SDCBP_ENST00000520168.1_Splice_Site_p.N44N|SDCBP_ENST00000413219.2_Splice_Site_p.N44N|SDCBP_ENST00000424270.2_Splice_Site_p.N38N	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	44					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ACTTTTTAGATCTCTATCCCA	0.363																																																	0													100	110	106					8																	59484765		2203	4300	6503	SO:0001630	splice_region_variant	0			AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.131-1T>C	8.37:g.59484765T>C			B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N44	ENST00000260130.4	37	c.132	CCDS6172.1	8																																																																																			SDCBP	-	NULL	ENSG00000137575		0.363	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCBP	HGNC	protein_coding	OTTHUMT00000378193.1	-	0	60	0	T	NM_005625	Silent	59484765	1	tier1	-	no_errors	ENST00000260130	ensembl	human	known	74_37	silent	29.51	86	36	SNP	0.962	C	C	59484765	T	C	59484765	5	2	158	1	0	0	0	0	0	0	1	0	14000	1449	50	4	142	4	SDCBP	8	59484765	Splice_Site	SNP	T	TCGA-V5-AASV-01A-11D-A387-09	10643113	59484765	86879257	107	40180											
KIAA1429	25962	genome.wustl.edu	37	chr8	95538542	95538543	+	Frame_Shift_Ins	INS	-	-	A																															acaggttgttggatcattgtINSatgaggggcagtttccatta																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:95538542_95538543insA	ENST00000297591.5	-	8	2004_2005	c.1929_1930insT	c.(1927-1932)catacafs	p.T644fs	KIAA1429_ENST00000421249.2_Frame_Shift_Ins_p.T644fs|KIAA1429_ENST00000437199.1_Frame_Shift_Ins_p.T644fs	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	644					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)			TGGATCATTGTATGAGGGGCAG	0.396																																																	0																																										SO:0001589	frameshift_variant	0			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.1930dupT	8.37:g.95538543_95538543dupA	ENSP00000297591:p.Thr644fs		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.T643fs	ENST00000297591.5	37	c.1930_1929	CCDS34923.1	8																																																																																			KIAA1429	-	superfamily_ARM-type_fold	ENSG00000164944		0.396	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2		0	74	0	-	NM_015496		95538543	-1	tier1		no_errors	ENST00000297591	ensembl	human	known	74_37	frame_shift_ins	23.26	99	30	INS	0.997:0.994	A	A	95538543	-	A	95538542	7	5	158	1	0	1	1	0	0	0	0	0	8258	1638	57	0	3630	0	KIAA1429	8	95538542	Frame_Shift_Ins	INS	-	TCGA-V5-AASV-01A-11D-A387-09	36053777	95538542	50825480	108	40181											
ZC3H3	23144	genome.wustl.edu	37	chr8	144620514	144620514	+	Silent	SNP	A	A	G	1	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	accttgtttgccatgccagcAgaggccttgcacacattctc	8	11	8	14	0	1	1	0	0	1	1	2	1	1	1	4	1	4	3	4	1	0	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:144620514A>G	ENST00000262577.5	-	2	1054	c.1023T>C	c.(1021-1023)tcT>tcC	p.S341S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	341					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)			CCATGCCAGCAGAGGCCTTGC	0.612																																																	0													68	72	71					8																	144620514		2202	4299	6501	SO:0001819	synonymous_variant	0			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.1023T>C	8.37:g.144620514A>G			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S341	ENST00000262577.5	37	c.1023	CCDS6402.1	8																																																																																			ZC3H3	-	NULL	ENSG00000014164		0.612	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2	-	0	51	0	A	NM_015117		144620514	-1	tier1	-	no_errors	ENST00000262577	ensembl	human	known	74_37	silent	27.93	80	31	SNP	0.000	G	G	144620514	A	G	144620514	2	3	158	1	0	0	0	0	0	0	0	1	17617	175	7	4		4	ZC3H3	8	144620514	Silent	SNP	A	TCGA-V5-AASV-01A-11D-A387-09	49081972	144620514	1743508	109	40182											
PARP10	84875	genome.wustl.edu	37	chr8	145059488	145059488	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcctgctgcaacactcGttctgccacttggaggaagg	7	10	12	12	1	1	0	0	0	1	0	3	2	2	2	2	3	5	4	2	3	2	2	rs372202325		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:145059488G>A	ENST00000313028.7	-	5	776	c.682C>T	c.(682-684)Cga>Tga	p.R228*	PARP10_ENST00000524918.1_Nonsense_Mutation_p.R228*|PARP10_ENST00000525773.1_Nonsense_Mutation_p.R240*|PARP10_ENST00000533665.1_5'UTR	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	228					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)			tgcaacactcgttctgccact	0.612																																																	0									stop/ARG	0,4404		0,0,2202	21	24	23		682	2.1	0.6	8		23	1,8597		0,1,4298	no	stop-gained	PARP10	NM_032789.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		228/1026	145059488	1,13001	2202	4299	6501	SO:0001587	stop_gained	0			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.682C>T	8.37:g.145059488G>A	ENSP00000325618:p.Arg228*		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Nonsense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R228*	ENST00000313028.7	37	c.682	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580652	0.65992	0.0	1.16E-4	ENSG00000178685	ENST00000524918;ENST00000313028;ENST00000525773;ENST00000313059	.	.	.	3.92	2.08	0.27032	.	0.000000	0.40818	N	0.001017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4033	0.16308	0.1173:0.2063:0.6764:0.0	.	.	.	.	X	228;228;240;143	.	ENSP00000325618:R228X	R	-	1	2	PARP10	145131476	0.000000	0.05858	0.593000	0.28771	0.255000	0.26057	0.514000	0.22786	0.176000	0.19873	0.450000	0.29827	CGA	PARP10	-	NULL	ENSG00000178685		0.612	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	-	0	66	0	G	NM_032789		145059488	-1	tier1	-	no_errors	ENST00000313028	ensembl	human	known	74_37	nonsense	36.21	37	21	SNP	0.977	A	A	145059488	G	A	145059488	4	1	158	1	0	0	0	0	0	1	0	0	11494	1153	40	1	2423	1	PARP10	8	145059488	Nonsense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	438974	145059488	1304534	110	40183											
SCRT1	83482	genome.wustl.edu	37	chr8	145559791	145559791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcggccgaagagaacGcgtcaagtttgaccttcttg	9	9	12	11	4	2	2	1	1	1	1	3	4	2	2	3	2	1	1	3	2	3	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr8:145559791G>A	ENST00000332135.4	-	1	152	c.41C>T	c.(40-42)gCg>gTg	p.A14V		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	14	SNAG domain. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A14V(1)		breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CGAAGAGAACGCGTCAAGTTT	0.692																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											31	29	30					8																	145559791		2201	4295	6496	SO:0001583	missense	0			BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"Zinc fingers, C2H2-type"	15950	protein-coding gene	gene with protein product		605858	"scratch (drosophila homolog) 1, zinc finger protein", "scratch homolog 1, zinc finger protein (Drosophila)"			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.41C>T	8.37:g.145559791G>A	ENSP00000331692:p.Ala14Val		A8MX66|Q96C52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A14V	ENST00000332135.4	37	c.41	CCDS6421.1	8	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361572	0.41801	.	.	ENSG00000170616	ENST00000332135	T	0.07800	3.16	3.85	2.95	0.34219	.	0.236296	0.27240	U	0.020271	T	0.06826	0.0174	L	0.34521	1.04	0.21841	N	0.999514	B	0.11235	0.004	B	0.10450	0.005	T	0.32025	-0.9922	10	0.34782	T	0.22	-4.1426	9.1775	0.37120	0.0:0.2244:0.7756:0.0	.	14	Q9BWW7	SCRT1_HUMAN	V	14	ENSP00000331692:A14V	ENSP00000331692:A14V	A	-	2	0	SCRT1	145530599	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	1.899000	0.39818	0.567000	0.29293	0.478000	0.44815	GCG	SCRT1	-	NULL	ENSG00000170616		0.692	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRT1	HGNC	protein_coding	OTTHUMT00000382800.2	-	0	111	0	G	NM_031309		145559791	-1	tier1	-	no_errors	ENST00000332135	ensembl	human	known	74_37	missense	20.88	71	19	SNP	1.000	A	A	145559791	G	A	145559791	3	1	158	1	0	0	0	0	1	0	0	0	13986	1087	38	1	1013	1	SCRT1	8	145559791	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	500303	145559791	804231	111	40184											
JAK2	3717	genome.wustl.edu	37	chr9	5126757	5126757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttagggatctagctcttcGagtggatcaaataagggata	12	12	11	6	1	3	0	1	0	2	0	4	4	3	3	0	3	1	1	0	3	5	6			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:5126757G>A	ENST00000381652.3	+	25	3859	c.3365G>A	c.(3364-3366)cGa>cAa	p.R1122Q	JAK2_ENST00000544510.1_Missense_Mutation_p.R973Q|JAK2_ENST00000539801.1_Missense_Mutation_p.R1122Q|JAK2_ENST00000487310.1_3'UTR	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1122	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)	p.R1122P(2)	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)	CTAGCTCTTCGAGTGGATCAA	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	2	Substitution - Missense(2)	lung(1)|breast(1)											72	68	70					9																	5126757		2203	4300	6503	SO:0001583	missense	0	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.3365G>A	9.37:g.5126757G>A	ENSP00000371067:p.Arg1122Gln		O14636|O75297	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1122Q	ENST00000381652.3	37	c.3365	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127105	0.20959	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.78003	-1.02;-1.02;-1.14	5.27	4.38	0.52667	Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.133960	0.52532	D	0.000072	T	0.59905	0.2228	L	0.43701	1.375	0.48975	D	0.999731	P	0.41643	0.758	B	0.23419	0.046	T	0.59369	-0.7467	10	0.11485	T	0.65	-4.0004	10.6528	0.45657	0.1481:0.0:0.8519:0.0	.	1122	O60674	JAK2_HUMAN	Q	1122;1122;973	ENSP00000440387:R1122Q;ENSP00000371067:R1122Q;ENSP00000443103:R973Q	ENSP00000371067:R1122Q	R	+	2	0	JAK2	5116757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.357000	0.59436	1.357000	0.45904	0.655000	0.94253	CGA	JAK2	-	smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	ENSG00000096968		0.353	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	-	0	52	0	G			5126757	1	tier1	-	no_errors	ENST00000381652	ensembl	human	known	74_37	missense	33.87	41	21	SNP	1.000	A	A	5126757	G	A	5126757	3	1	158	1	0	0	0	0	1	0	0	0	7965	1058	37	1	3455	1	JAK2	9	5126757	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09		5126757	136086674	112	40185											
TLN1	7094	genome.wustl.edu	37	chr9	35700018	35700018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagccattggcacactcccGgccatagtgcagggctcgaa	9	7	12	13	2	0	0	0	0	0	0	2	1	1	0	3	3	2	4	3	3	3	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:35700018G>A	ENST00000314888.9	-	50	7074	c.6721C>T	c.(6721-6723)Cgg>Tgg	p.R2241W	TLN1_ENST00000540444.1_Missense_Mutation_p.R2129W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2241					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)			GCACACTCCCGGCCATAGTGC	0.572																																																	0													81	78	79					9																	35700018		2203	4300	6503	SO:0001583	missense	0			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.6721C>T	9.37:g.35700018G>A	ENSP00000316029:p.Arg2241Trp		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.R2241W	ENST00000314888.9	37	c.6721	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814192	0.70912	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70282	-0.47;-0.44	5.37	4.47	0.54385	.	0.357982	0.30051	N	0.010538	T	0.67859	0.2938	L	0.34521	1.04	0.27787	N	0.942956	D	0.71674	0.998	P	0.50659	0.647	T	0.64976	-0.6280	10	0.72032	D	0.01	-21.0765	12.8694	0.57957	0.0:0.0:0.5915:0.4085	.	2241	Q9Y490	TLN1_HUMAN	W	2241;2129	ENSP00000316029:R2241W;ENSP00000442981:R2129W	ENSP00000316029:R2241W	R	-	1	2	TLN1	35690018	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.691000	0.61738	1.245000	0.43885	-0.181000	0.13052	CGG	TLN1	-	NULL	ENSG00000137076		0.572	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	-	0	55	0	G	NM_006289		35700018	-1	tier1	-	no_errors	ENST00000314888	ensembl	human	known	74_37	missense	32.35	23	11	SNP	1.000	A	A	35700018	G	A	35700018	3	1	158	1	0	0	0	0	1	0	0	0	15994	1115	39	1	936	1	TLN1	9	35700018	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	30573261	35700018	105513413	113	40186											
HRCT1	646962	genome.wustl.edu	37	chr9	35906300	35906300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccagatgctgggcctcctgGggagcacagccctcgtggga	6	6	15	14	1	0	1	0	0	0	1	2	3	1	3	4	4	3	2	4	4	0	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:35906300G>A	ENST00000354323.2	+	1	112	c.16G>A	c.(16-18)Ggg>Agg	p.G6R		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	6						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						GGGCCTCCTGGGGAGCACAGC	0.657																																																	0													21	24	23					9																	35906300		2201	4300	6501	SO:0001583	missense	0				CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.16G>A	9.37:g.35906300G>A	ENSP00000346283:p.Gly6Arg		B7ZBJ1	Missense_Mutation	SNP	NULL	p.G6R	ENST00000354323.2	37	c.16	CCDS35012.1	9	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254330	0.59212	.	.	ENSG00000196196	ENST00000354323	.	.	.	3.6	2.67	0.31697	.	0.000000	0.35525	N	0.003158	T	0.45316	0.1336	L	0.27053	0.805	0.31365	N	0.680898	D	0.89917	1.0	D	0.68353	0.957	T	0.50432	-0.8829	9	0.87932	D	0	-7.8635	8.279	0.31889	0.0:0.0:0.7642:0.2358	.	6	Q6UXD1	HRCT1_HUMAN	R	6	.	ENSP00000346283:G6R	G	+	1	0	HRCT1	35896300	1.000000	0.71417	0.997000	0.53966	0.687000	0.40016	3.680000	0.54641	1.046000	0.40249	0.655000	0.94253	GGG	HRCT1	-	NULL	ENSG00000196196		0.657	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRCT1	HGNC	protein_coding	OTTHUMT00000334099.1	-	0	29	0	G	NM_001039792		35906300	1	tier1	-	no_errors	ENST00000354323	ensembl	human	known	74_37	missense	50.00	20	20	SNP	0.998	A	A	35906300	G	A	35906300	3	1	158	1	0	0	0	0	1	0	0	0	7380	1232	43	3	18	3	HRCT1	9	35906300	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	206282	35906300	105307131	114	40187											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100079410	100079410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctgtttgtcaacctgatgGagtccaccctgcagcaggag	9	9	12	11	0	1	1	1	1	0	0	2	3	2	3	3	2	4	4	3	2	1	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:100079410G>A	ENST00000357054.1	+	23	2343	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	CCDC180_ENST00000529487.1_Missense_Mutation_p.E331K|CCDC180_ENST00000375202.2_Missense_Mutation_p.E331K|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.E470K|CCDC180_ENST00000411667.2_Missense_Mutation_p.E328K			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	470						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAACCTGATGGAGTCCACCCT	0.612																																																	0													73	70	71					9																	100079410		2203	4300	6503	SO:0001583	missense	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.1408G>A	9.37:g.100079410G>A	ENSP00000349562:p.Glu470Lys		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.E331K	ENST00000357054.1	37	c.991		9	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660869	0.67700	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.28	5.28	0.74379	.	0.263548	0.36778	N	0.002418	T	0.45498	0.1345	M	0.62723	1.935	0.35677	D	0.813768	P;D;D;D	0.89917	0.946;1.0;1.0;1.0	P;D;D;D	0.87578	0.705;0.998;0.998;0.998	T	0.44907	-0.9297	10	0.16420	T	0.52	-26.7652	14.7917	0.69846	0.0:0.0:1.0:0.0	.	328;470;331;470	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	K	470;470;331;328;354;331	ENSP00000349562:E470K;ENSP00000378646:E470K;ENSP00000364348:E331K;ENSP00000414000:E328K;ENSP00000434727:E331K	ENSP00000349562:E470K	E	+	1	0	C9orf174	99119231	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.253000	0.65452	2.654000	0.90174	0.563000	0.77884	GAG	CCDC180	-	NULL	ENSG00000197816		0.612	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding		-	0	43	0	G	NM_020893		100079410	1	tier1	-	no_errors	ENST00000375202	ensembl	human	known	74_37	missense	67.35	16	33	SNP	1.000	A	A	100079410	G	A	100079410	3	1	158	1	0	0	0	0	1	0	0	0	8267	1175	41	3	1454	3	KIAA1529	9	100079410	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	64173110	100079410	41134021	115	40188											
FAM78A	286336	genome.wustl.edu	37	chr9	134151290	134151290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaactccatgtggctgcacgCctggatccagccaactaccc	9	7	9	16	1	0	0	0	0	0	0	2	2	2	1	5	2	5	2	5	2	3	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:134151290C>T	ENST00000372271.3	-	1	644	c.277G>A	c.(277-279)Gcg>Acg	p.A93T		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	93										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGCTGCACGCCTGGATCCAG	0.637																																																	0													58	50	53					9																	134151290		2203	4300	6503	SO:0001583	missense	0			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.277G>A	9.37:g.134151290C>T	ENSP00000361345:p.Ala93Thr		Q86VQ9|Q9H7P4	Missense_Mutation	SNP	NULL	p.A93T	ENST00000372271.3	37	c.277	CCDS6941.2	9	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734119	0.89482	.	.	ENSG00000126882	ENST00000372271	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79276	-0.1870	9	0.87932	D	0	-35.4935	17.6901	0.88267	0.0:1.0:0.0:0.0	.	93	Q5JUQ0	FA78A_HUMAN	T	93	.	ENSP00000361345:A93T	A	-	1	0	FAM78A	133141111	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.437000	0.80417	2.492000	0.84095	0.655000	0.94253	GCG	FAM78A	-	NULL	ENSG00000126882		0.637	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	HGNC	protein_coding	OTTHUMT00000054720.1		0	37	0	C	NM_033387		134151290	-1			no_errors	ENST00000372271	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T	T	134151290	C	T	134151290	3	4	158	1	0	0	0	0	1	0	0	0	5648	739	26	3	582	3	FAM78A	9	134151290	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	34071880	134151290	7062141	116	40189											
NOTCH1	4851	genome.wustl.edu	37	chr9	139417576	139417577	+	Frame_Shift_Ins	INS	-	-	A																															tgtaggaggcctcgaagggcINSaggcactggccaccgttggc																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr9:139417576_139417577insA	ENST00000277541.6	-	4	542_543	c.467_468insT	c.(466-468)ctgfs	p.L156fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	156	EGF-like 4. {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)		CCTCGAAGGGCAGGCACTGGCC	0.663			"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	0			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.468dupT	9.37:g.139417577_139417577dupA	ENSP00000277541:p.Leu156fs		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.P157fs	ENST00000277541.6	37	c.468_467	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.663	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0	69	0	-	NM_017617		139417577	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_ins	59.74	31	46	INS	1.000:1.000	A	A	139417577	-	A	139417576	7	5	158	1	0	1	1	0	0	0	0	0	10586	697	25	0	7323	0	NOTCH1	9	139417576	Frame_Shift_Ins	INS	-	TCGA-V5-AASV-01A-11D-A387-09	5266286	139417576	1795855	117	40190											
C1QL3	389941	genome.wustl.edu	37	chr10	16556665	16556665	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactgttactggcatagtcGtaattctgatcagcatcttg	10	14	8	9	1	3	1	1	1	2	0	4	1	3	1	0	1	2	4	0	1	3	5			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr10:16556665G>T	ENST00000298943.3	-	2	1569	c.630C>A	c.(628-630)taC>taA	p.Y210*		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	210	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TGGCATAGTCGTAATTCTGAT	0.408																																																	0													100	84	90					10																	16556665		2203	4299	6502	SO:0001587	stop_gained	0				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.630C>A	10.37:g.16556665G>T	ENSP00000298943:p.Tyr210*		A0PJY4|A0PJY5	Nonsense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.Y210*	ENST00000298943.3	37	c.630	CCDS31156.1	10	.	.	.	.	.	.	.	.	.	.	G	44	10.699151	0.99452	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	.	.	.	5.66	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4187	0.32687	0.2931:0.0:0.7069:0.0	.	.	.	.	X	210;187	.	ENSP00000298943:Y210X	Y	-	3	2	C1QL3	16596671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.466000	0.45084	0.754000	0.32968	0.655000	0.94253	TAC	C1QL3	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q	ENSG00000165985		0.408	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL3	HGNC	protein_coding	OTTHUMT00000047003.1	-	0	48	0	G	XM_372305		16556665	-1	tier1	-	no_errors	ENST00000298943	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	1.000	T	T	16556665	G	T	16556665	4	4	158	1	0	0	0	0	0	1	0	0	1967	1140	40	2	141	2	C1QL3	10	16556665	Nonsense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09		16556665	118978082	118	40191											
PARD3	56288	genome.wustl.edu	37	chr10	34805981	34805981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaggctgagacattgttgGtgccaagctcactaccaaat	13	9	10	9	0	1	1	1	1	0	1	1	3	1	1	2	2	3	3	2	2	4	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr10:34805981G>T	ENST00000374789.3	-	3	654	c.329C>A	c.(328-330)aCc>aAc	p.T110N	PARD3_ENST00000374776.1_Missense_Mutation_p.T110N|PARD3_ENST00000374788.3_Missense_Mutation_p.T110N|PARD3_ENST00000340077.5_Missense_Mutation_p.T110N|PARD3_ENST00000374773.1_Missense_Mutation_p.T110N|PARD3_ENST00000545693.1_Missense_Mutation_p.T110N|PARD3_ENST00000346874.4_Missense_Mutation_p.T110N|PARD3_ENST00000545260.1_Missense_Mutation_p.T110N|PARD3_ENST00000350537.4_Missense_Mutation_p.T110N|PARD3_ENST00000374794.3_Missense_Mutation_p.T110N|PARD3_ENST00000374790.3_Missense_Mutation_p.T110N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	110					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GACATTGTTGGTGCCAAGCTC	0.498																																																	0													149	129	136					10																	34805981		2203	4300	6503	SO:0001583	missense	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.329C>A	10.37:g.34805981G>T	ENSP00000363921:p.Thr110Asn		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T110N	ENST00000374789.3	37	c.329	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081781	0.36758	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.93	5.93	0.95920	.	0.468437	0.25564	N	0.029816	T	0.49406	0.1555	L	0.39898	1.24	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B	0.34147	0.234;0.161;0.141;0.234;0.141;0.234;0.234;0.146;0.146;0.438;0.438	B;B;B;B;B;B;B;B;B;B;B	0.39339	0.255;0.079;0.156;0.255;0.197;0.255;0.255;0.219;0.297;0.255;0.255	T	0.47674	-0.9099	10	0.62326	D	0.03	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	110;110;110;110;110;110;110;110;110;110;110	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q8TEW0-8;Q8TEW0-9	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.	N	110	ENSP00000443147:T110N;ENSP00000440857:T110N;ENSP00000363921:T110N;ENSP00000363920:T110N;ENSP00000340591:T110N;ENSP00000363926:T110N;ENSP00000311986:T110N;ENSP00000363922:T110N;ENSP00000363908:T110N;ENSP00000341844:T110N;ENSP00000363905:T110N	ENSP00000341844:T110N	T	-	2	0	PARD3	34845987	1.000000	0.71417	0.706000	0.30403	0.206000	0.24218	7.996000	0.88334	2.798000	0.96311	0.655000	0.94253	ACC	PARD3	-	pfam_DUF3534	ENSG00000148498		0.498	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1		0	78	0	G	NM_019619		34805981	-1			no_errors	ENST00000374789	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.991	T	T	34805981	G	T	34805981	3	4	158	1	0	0	0	0	1	0	0	0	11482	1261	44	3	3868	3	PARD3	10	34805981	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	18249316	34805981	100728766	119	40192											
MYOF	26509	genome.wustl.edu	37	chr10	95070368	95070368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcgtcggcctccttctcGttgaggatttccaatgtcat	5	15	8	13	3	3	1	1	1	2	0	8	2	5	2	3	2	0	1	3	2	1	3	rs186335544	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr10:95070368G>T	ENST00000359263.4	-	52	5921	c.5922C>A	c.(5920-5922)aaC>aaA	p.N1974K	MYOF_ENST00000371501.4_Missense_Mutation_p.N1974K|MYOF_ENST00000358334.5_Missense_Mutation_p.N1961K|MYOF_ENST00000371502.4_Missense_Mutation_p.N1964K	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1974					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						CCTCCTTCTCGTTGAGGATTT	0.488																																																	0													113	113	113					10																	95070368		1906	4117	6023	SO:0001583	missense	0			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.5922C>A	10.37:g.95070368G>T	ENSP00000352208:p.Asn1974Lys		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.N1974K	ENST00000359263.4	37	c.5922	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437783	0.43326	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.82433	-1.6;-1.6;-1.61;-1.61	5.17	-1.82	0.07857	.	0.266940	0.46442	D	0.000289	T	0.76485	0.3994	L	0.49126	1.545	0.37542	D	0.918341	B;B	0.33280	0.365;0.405	B;B	0.36608	0.229;0.137	T	0.70648	-0.4814	10	0.72032	D	0.01	-27.6842	10.3193	0.43756	0.6972:0.0:0.3028:0.0	.	1961;1974	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	K	1961;1974;1974;1964	ENSP00000351094:N1961K;ENSP00000352208:N1974K;ENSP00000360556:N1974K;ENSP00000360557:N1964K	ENSP00000351094:N1961K	N	-	3	2	MYOF	95060358	0.013000	0.17824	0.989000	0.46669	0.983000	0.72400	-0.860000	0.04272	-0.470000	0.06901	-0.390000	0.06520	AAC	MYOF	-	NULL	ENSG00000138119		0.488	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	-	0	98	0	G	NM_013451		95070368	-1	tier1	-	no_errors	ENST00000359263	ensembl	human	known	74_37	missense	44.80	69	56	SNP	0.993	T	T	95070368	G	T	95070368	3	4	158	1	0	0	0	0	1	0	0	0	10127	1136	40	2	275	2	MYOF	10	95070368	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	60264387	95070368	40464379	120	40193											
ABCC2	1244	genome.wustl.edu	37	chr10	101560169	101560169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcctttgcaagtgaccGtgacacatatttgtggattg	9	14	10	8	1	1	2	0	2	1	0	2	4	1	3	2	1	1	1	2	1	2	4	rs7080681	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr10:101560169G>T	ENST00000370449.4	+	9	1171	c.1058G>T	c.(1057-1059)cGt>cTt	p.R353L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	353	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		R -> H (altered transporter activity; dbSNP:rs7080681). {ECO:0000269|PubMed:22290738}.		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)	GCAAGTGACCGTGACACATAT	0.463																																																	0													380	359	366					10																	101560169		2203	4300	6503	SO:0001583	missense	0			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.1058G>T	10.37:g.101560169G>T	ENSP00000359478:p.Arg353Leu		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.R353L	ENST00000370449.4	37	c.1058	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180282	0.57800	.	.	ENSG00000023839	ENST00000370449	D	0.94687	-3.49	5.8	-11.6	0.00059	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.918670	0.02241	N	0.065779	D	0.87398	0.6167	N	0.25286	0.73	0.09310	N	1	B	0.09022	0.002	B	0.16289	0.015	T	0.74435	-0.3666	10	0.35671	T	0.21	17.8589	10.6955	0.45896	0.293:0.5623:0.0834:0.0614	.	353	Q92887	MRP2_HUMAN	L	353	ENSP00000359478:R353L	ENSP00000359478:R353L	R	+	2	0	ABCC2	101550159	0.000000	0.05858	0.000000	0.03702	0.608000	0.37181	-1.726000	0.01861	-2.475000	0.00527	0.561000	0.74099	CGT	ABCC2	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	ENSG00000023839		0.463	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	-	0	61	0	G	NM_000392		101560169	1	tier1	-	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.000	T	T	101560169	G	T	101560169	3	4	158	1	0	0	0	0	1	0	0	0	53	1145	40	2	1092	2	ABCC2	10	101560169	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	6489801	101560169	33974578	121	40194											
PDCD11	22984	genome.wustl.edu	37	chr10	105179338	105179338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtctccacagtagaaggtgGccaggatcccaagaacttct	11	8	11	11	0	2	2	0	0	2	2	4	3	3	3	3	4	1	1	3	4	4	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr10:105179338G>A	ENST00000369797.3	+	16	2244	c.2150G>A	c.(2149-2151)gGc>gAc	p.G717D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	717					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)		GTAGAAGGTGGCCAGGATCCC	0.483																																																	0													156	142	147					10																	105179338		2203	4300	6503	SO:0001583	missense	0			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.2150G>A	10.37:g.105179338G>A	ENSP00000358812:p.Gly717Asp		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.G717D	ENST00000369797.3	37	c.2150	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909708	0.52439	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10668	2.85	5.5	4.59	0.56863	.	0.095026	0.64402	N	0.000001	T	0.10981	0.0268	L	0.57536	1.79	0.58432	D	0.999998	B	0.13145	0.007	B	0.15484	0.013	T	0.09250	-1.0683	10	0.14656	T	0.56	-11.3843	9.3862	0.38345	0.2082:0.0:0.7918:0.0	.	717	Q14690	RRP5_HUMAN	D	717	ENSP00000358812:G717D	ENSP00000358812:G717D	G	+	2	0	PDCD11	105169328	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.064000	0.57506	1.303000	0.44873	0.462000	0.41574	GGC	PDCD11	-	NULL	ENSG00000148843		0.483	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	-	0	56	0	G			105179338	1	tier1	-	no_errors	ENST00000369797	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	105179338	G	A	105179338	3	1	158	1	0	0	0	0	1	0	0	0	11656	1203	42	3	2208	3	PDCD11	10	105179338	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	3619169	105179338	30355409	122	40195											
OR51G2	81282	genome.wustl.edu	37	chr11	4936308	4936308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgctgttggccttcatgtCggcacaggccaatttcatca	8	12	10	11	1	3	0	3	0	0	0	4	1	3	0	2	3	1	3	2	3	1	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:4936308C>T	ENST00000322013.3	-	1	614	c.586G>A	c.(586-588)Gac>Aac	p.D196N	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	196						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)		GCCTTCATGTCGGCACAGGCC	0.468																																																	0													120	103	109					11																	4936308		2201	4298	6499	SO:0001583	missense	0			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.586G>A	11.37:g.4936308C>T	ENSP00000322593:p.Asp196Asn		Q6IFH7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D196N	ENST00000322013.3	37	c.586	CCDS31365.1	11	.	.	.	.	.	.	.	.	.	.	C	8.299	0.819593	0.16607	.	.	ENSG00000176893	ENST00000322013	T	0.00231	8.49	5.58	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.117449	0.38005	N	0.001854	T	0.00300	0.0009	L	0.31804	0.96	0.27066	N	0.963434	D	0.69078	0.997	P	0.57101	0.813	T	0.63563	-0.6609	10	0.54805	T	0.06	.	16.4504	0.83984	0.0:0.9299:0.0:0.0701	.	196	Q8NGK0	O51G2_HUMAN	N	196	ENSP00000322593:D196N	ENSP00000322593:D196N	D	-	1	0	OR51G2	4892884	0.131000	0.22433	0.998000	0.56505	0.064000	0.16182	0.583000	0.23849	0.928000	0.37168	-0.797000	0.03246	GAC	OR51G2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000176893		0.468	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G2	HGNC	protein_coding	OTTHUMT00000142174.1	-	0	16	0	C	NM_001005238		4936308	-1	tier1	-	no_errors	ENST00000322013	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.966	T	T	4936308	C	T	4936308	3	4	158	1	0	0	0	0	1	0	0	0	11138	884	31	1	362	1	OR51G2	11	4936308	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09		4936308	130070208	123	40196											
GALNTL4	374378	genome.wustl.edu	37	chr11	11348709	11348709	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cctggtcaagacacaaatcaGtcttcagagaattctgcagc	13	9	8	11	0	5	2	3	0	2	2	5	3	5	2	1	1	2	1	1	1	3	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:11348709G>T	ENST00000227756.4	-	9	1847	c.1436C>A	c.(1435-1437)aCt>aAt	p.T479N		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	479	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ACACAAATCAGTCTTCAGAGA	0.463																																																	0													107	96	99					11																	11348709		2201	4294	6495	SO:0001583	missense	0			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.1436C>A	11.37:g.11348709G>T	ENSP00000227756:p.Thr479Asn		O95903|Q8NDY9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.T479N	ENST00000227756.4	37	c.1436	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864902	0.32977	.	.	ENSG00000110328	ENST00000227756	T	0.27557	1.66	5.62	3.69	0.42338	Ricin B-related lectin (1);Ricin B lectin (3);	0.178212	0.44483	D	0.000451	T	0.21062	0.0507	N	0.25485	0.75	0.29191	N	0.875884	B	0.02656	0.0	B	0.06405	0.002	T	0.12041	-1.0563	10	0.48119	T	0.1	.	10.4477	0.44503	0.0:0.3145:0.565:0.1205	.	479	Q6P9A2	GLTL4_HUMAN	N	479	ENSP00000227756:T479N	ENSP00000227756:T479N	T	-	2	0	GALNTL4	11305285	0.950000	0.32346	0.998000	0.56505	0.993000	0.82548	0.905000	0.28504	1.362000	0.46000	0.563000	0.77884	ACT	GALNT18	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000110328		0.463	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	HGNC	protein_coding	OTTHUMT00000385848.1		0	69	0	G	NM_198516		11348709	-1			no_errors	ENST00000227756	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.941	T	T	11348709	G	T	11348709	3	4	158	1	0	0	0	0	1	0	0	0	6248	1029	36	3	399	3	GALNTL4	11	11348709	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	6412401	11348709	123657807	124	40197											
SOX6	55553	genome.wustl.edu	37	chr11	16077436	16077436	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgctggccagctgagcGgcatagagctgctgcaaaac	10	7	13	11	1	0	2	0	1	0	1	0	2	0	2	1	2	8	7	1	2	3	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:16077436G>T	ENST00000352083.6	-	10	1190	c.1113C>A	c.(1111-1113)gcC>gcA	p.A371A	SOX6_ENST00000528429.1_Silent_p.A371A|SOX6_ENST00000316399.6_Silent_p.A371A|SOX6_ENST00000396356.3_Silent_p.A371A|SOX6_ENST00000527619.1_Silent_p.A333A|SOX6_ENST00000528252.1_Silent_p.A330A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	371					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|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)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCAGCTGAGCGGCATAGAGCT	0.448																																																	0													98	86	90					11																	16077436		2200	4294	6494	SO:0001819	synonymous_variant	0			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1113C>A	11.37:g.16077436G>T			Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A371	ENST00000352083.6	37	c.1113		11																																																																																			SOX6	-	NULL	ENSG00000110693		0.448	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	-	0	84	0	G	NM_033326		16077436	-1	tier1	-	no_errors	ENST00000352083	ensembl	human	known	74_37	silent	5.48	68	4	SNP	0.987	T	T	16077436	G	T	16077436	2	4	158	1	0	0	0	0	0	0	0	1	15000	1103	39	2		2	SOX6	11	16077436	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	4728727	16077436	118929080	125	40198											
PEX16	9409	genome.wustl.edu	37	chr11	45935479	45935479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggccctttctgtcactcaGgaggctcaggctgggaggca	7	8	14	12	0	4	0	3	0	1	0	4	2	4	2	1	6	0	3	1	6	0	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:45935479G>A	ENST00000378750.5	-	9	1021	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	PEX16_ENST00000241041.3_Silent_p.L260L|PEX16_ENST00000532554.1_5'Flank|PEX16_ENST00000532681.1_Silent_p.L165L			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	260	Interaction with PEX19.				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)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTGTCACTCAGGAGGCTCAGG	0.667																																																	0													35	36	36					11																	45935479		2203	4298	6501	SO:0001819	synonymous_variant	0			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.778C>T	11.37:g.45935479G>A			Q9BWB9	Silent	SNP	pfam_Pex16	p.L260	ENST00000378750.5	37	c.778	CCDS31472.1	11																																																																																			PEX16	-	pfam_Pex16	ENSG00000121680		0.667	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX16	HGNC	protein_coding	OTTHUMT00000392398.1	-	0	81	0	G	NM_057174		45935479	-1	tier1	-	no_errors	ENST00000241041	ensembl	human	known	74_37	silent	34.07	60	31	SNP	1.000	A	A	45935479	G	A	45935479	2	1	158	1	0	0	0	0	0	0	0	1	11782	991	35	3		3	PEX16	11	45935479	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	29858043	45935479	89071037	126	40199											
OR5A2	219981	genome.wustl.edu	37	chr11	59189983	59189983	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatccacccacataggcGccaaccaccatctttaaaca	15	6	5	15	1	1	0	0	0	1	0	2	1	2	1	5	2	2	0	5	2	5	3	rs141672631	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:59189983G>T	ENST00000302040.4	-	1	466	c.444C>A	c.(442-444)ggC>ggA	p.G148G		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCACATAGGCGCCAACCACCA	0.453																																																	0													81	77	79					11																	59189983		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"GPCR / Class A : Olfactory receptors"	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.444C>A	11.37:g.59189983G>T			B9EH21|Q6IFF4|Q96RB0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G148	ENST00000302040.4	37	c.444	CCDS31560.1	11																																																																																			OR5A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172324		0.453	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5A2	HGNC	protein_coding	OTTHUMT00000394552.1		0	47	0	G	NM_001001954		59189983	-1			no_errors	ENST00000302040	ensembl	human	known	74_37	silent	7.32	38	3	SNP	0.000	T	T	59189983	G	T	59189983	2	4	158	1	0	0	0	0	0	0	0	1	11179	1074	38	2		2	OR5A2	11	59189983	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	13254504	59189983	75816533	127	40200											
PATL1	219988	genome.wustl.edu	37	chr11	59423080	59423080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtggagcactaaagaaggcaCggaagcctggtgctggggga	11	5	18	7	1	0	1	0	0	0	1	0	4	0	4	1	6	3	3	1	6	4	1	rs566436701		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:59423080C>T	ENST00000300146.9	-	8	1031	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	316	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				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)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AAAGAAGGCACGGAAGCCTGG	0.572													C|||	1	0.000199681	0	0	5008	,	,		16010	0		0.001	False		,,,				2504	0																0													60	63	62					11																	59423080		1988	4152	6140	SO:0001583	missense	0			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.947G>A	11.37:g.59423080C>T	ENSP00000300146:p.Arg316His		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.R316H	ENST00000300146.9	37	c.947	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296262	0.60086	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.47528	0.84	4.86	4.86	0.63082	.	0.049415	0.85682	D	0.000000	T	0.61800	0.2376	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73380	0.936;0.98	T	0.57636	-0.7777	10	0.30854	T	0.27	-10.4275	17.9405	0.89025	0.0:1.0:0.0:0.0	.	286;316	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	H	316;286	ENSP00000300146:R316H	ENSP00000300146:R316H	R	-	2	0	PATL1	59179656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.689000	0.68234	2.398000	0.81561	0.563000	0.77884	CGT	PATL1	-	pfam_Topo_II-assoc_PAT1	ENSG00000166889		0.572	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	-	0	93	0	C	NM_152716		59423080	-1	tier1	-	no_errors	ENST00000300146	ensembl	human	known	74_37	missense	41.11	53	37	SNP	1.000	T	T	59423080	C	T	59423080	3	4	158	1	0	0	0	0	1	0	0	0	11514	536	19	1	1413	1	PATL1	11	59423080	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	233097	59423080	75583436	128	40201											
VPS37C	55048	genome.wustl.edu	37	chr11	60899905	60899905	+	Frame_Shift_Del	DEL	T	T	-																															tcctcaccacttcctggagcTtttccacgcgaacccggcgc																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:60899905delT	ENST00000301765.5	-	5	687	c.455delA	c.(454-456)aagfs	p.K152fs		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	152	VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				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						TTCCTGGAGCTTTTCCACGCG	0.657																																																	0													12	14	13					11																	60899905		2193	4289	6482	SO:0001589	frameshift_variant	0			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.455delA	11.37:g.60899905delT	ENSP00000301765:p.Lys152fs		Q8N3K4	Frame_Shift_Del	DEL	pfam_Mod_r	p.K152fs	ENST00000301765.5	37	c.455	CCDS31573.1	11																																																																																			VPS37C	-	pfam_Mod_r	ENSG00000167987		0.657	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37C	HGNC	protein_coding	OTTHUMT00000396467.1		0	40	0	T	NM_017966		60899905	-1	tier1		no_errors	ENST00000301765	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	1.000	-	-	60899905	T	-	60899905	7	5	158	1	0	1	0	1	0	0	0	0	17256	1609	56	0	616	0	VPS37C	11	60899905	Frame_Shift_Del	DEL	T	TCGA-V5-AASV-01A-11D-A387-09	1476825	60899905	74106611	129	40202											
VWCE	220001	genome.wustl.edu	37	chr11	61044094	61044094	+	Frame_Shift_Del	DEL	G	G	-																															aagtacagcaatccgtctgtGggggggtctgacaggggcca																								rs141301435		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:61044094delG	ENST00000335613.5	-	11	1852	c.1466delC	c.(1465-1467)ccafs	p.P489fs	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	489	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					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						ATCCGTCTGTGGGGGGGTCTG	0.507																																																	0													41	34	37					11																	61044094		2203	4299	6502	SO:0001589	frameshift_variant	0			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.1466delC	11.37:g.61044094delG	ENSP00000334186:p.Pro489fs		A5PKV0|Q7Z7L6|Q86WK8	Frame_Shift_Del	DEL	pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.P489fs	ENST00000335613.5	37	c.1466	CCDS8002.1	11																																																																																			VWCE	-	smart_VWC_out,smart_VWF_C	ENSG00000167992		0.507	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1		0	126	0	G	NM_152718		61044094	-1	tier1		no_errors	ENST00000335613	ensembl	human	known	74_37	frame_shift_del	28.21	84	33	DEL	0.008	-	-	61044094	G	-	61044094	7	5	158	1	0	1	0	1	0	0	0	0	17294	1348	47	0	1441	0	VWCE	11	61044094	Frame_Shift_Del	DEL	G	TCGA-V5-AASV-01A-11D-A387-09	144189	61044094	73962422	130	40203											
SSH3	54961	genome.wustl.edu	37	chr11	67075317	67075317	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaggggctctgctcccagGtcctcagaacaggagcagat	9	7	13	12	0	2	3	1	1	1	2	4	4	4	4	2	4	3	3	2	4	1	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:67075317G>A	ENST00000308127.4	+	8	970	c.792G>A	c.(790-792)ggG>ggA	p.G264G	SSH3_ENST00000308298.7_Splice_Site_p.G264G|SSH3_ENST00000376757.5_Splice_Site_p.G264G|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	264					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGCTCCCAGGTCCTCAGAAC	0.607																																																	0													77	75	76					11																	67075317		2200	4295	6495	SO:0001630	splice_region_variant	0			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.792-1G>A	11.37:g.67075317G>A			Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.G264	ENST00000308127.4	37	c.792	CCDS8157.1	11																																																																																			SSH3	-	NULL	ENSG00000172830		0.607	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	HGNC	protein_coding	OTTHUMT00000393167.1	-	0	61	0	G	NM_018276	Silent	67075317	1	tier1	-	no_errors	ENST00000308127	ensembl	human	known	74_37	silent	26.56	47	17	SNP	1.000	A	A	67075317	G	A	67075317	5	1	158	1	0	0	0	0	0	0	1	0	15233	1275	44	3	822	3	SSH3	11	67075317	Splice_Site	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	6031223	67075317	67931199	131	40204											
INPPL1	3636	genome.wustl.edu	37	chr11	71948432	71948433	+	Frame_Shift_Ins	INS	-	-	C																															aggagtctggaggcacactgINSccccctccagactttccacc																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:71948432_71948433insC	ENST00000298229.2	+	26	3348_3349	c.3144_3145insC	c.(3145-3147)cccfs	p.P1049fs	PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Frame_Shift_Ins_p.P807fs|INPPL1_ENST00000538751.1_Frame_Shift_Ins_p.P807fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1049	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						GAGGCACACTGCCCCCTCCAGA	0.634																																																	0																																										SO:0001589	frameshift_variant	0			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.3149dupC	11.37:g.71948437_71948437dupC	ENSP00000298229:p.Pro1049fs		B2RTX5|Q13577|Q13578	Frame_Shift_Ins	INS	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.P1050fs	ENST00000298229.2	37	c.3144_3145	CCDS8213.1	11																																																																																			INPPL1	-	NULL	ENSG00000165458		0.634	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1		0	87	0	-	NM_001567		71948433	1	tier1		no_errors	ENST00000298229	ensembl	human	known	74_37	frame_shift_ins	39.51	49	32	INS	1.000:1.000	C	C	71948433	-	C	71948432	7	5	158	1	0	1	1	0	0	0	0	0	7788	1306	46	0	3246	0	INPPL1	11	71948432	Frame_Shift_Ins	INS	-	TCGA-V5-AASV-01A-11D-A387-09	4873115	71948432	63058084	132	40205											
KCTD14	65987	genome.wustl.edu	37	chr11	77727684	77727684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaatgttaaaatggaattcGtttcttttggtggggtacgt	10	17	11	3	2	1	0	0	0	1	0	2	1	1	1	0	4	1	3	0	4	6	7	rs368467821		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:77727684G>A	ENST00000353172.5	-	2	767	c.723C>T	c.(721-723)aaC>aaT	p.N241N	KCTD14_ENST00000533144.1_Silent_p.N211N|RP11-7I15.3_ENST00000533697.1_RNA	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	241					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)			AATGGAATTCGTTTCTTTTGG	0.443																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)												0								G	,,,	0,4400		0,0,2200	139	123	129		,,,723	-1.5	0	11		129	2,8582	2.2+/-6.3	0,2,4290	no	utr-3,utr-3,utr-3,coding-synonymous	KCTD14,NDUFC2-KCTD14	NM_001203260.1,NM_001203261.1,NM_001203262.1,NM_023930.3	,,,	0,2,6490	AA,AG,GG		0.0233,0.0,0.0154	,,,	,,,241/256	77727684	2,12982	2200	4292	6492	SO:0001819	synonymous_variant	0			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.723C>T	11.37:g.77727684G>A			B2R9R8	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.N241	ENST00000353172.5	37	c.723	CCDS8255.2	11																																																																																			KCTD14	-	NULL	ENSG00000151364		0.443	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD14	HGNC	protein_coding	OTTHUMT00000316888.1	-	0	48	0	G	NM_023930		77727684	-1	tier1	-	no_errors	ENST00000353172	ensembl	human	known	74_37	silent	43.75	27	21	SNP	0.001	A	A	77727684	G	A	77727684	2	1	158	1	0	0	0	0	0	0	0	1	8128	1136	40	1		1	KCTD14	11	77727684	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	5779252	77727684	57278832	133	40206											
CNTN5	53942	genome.wustl.edu	37	chr11	100064338	100064338	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactttctactggactctGaaaggacagcctattgattt	10	14	8	9	0	3	2	1	2	2	0	3	4	3	4	1	2	2	0	1	2	3	5	rs558481129		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:100064338G>T	ENST00000524871.1	+	15	2117	c.1827G>T	c.(1825-1827)ctG>ctT	p.L609L	CNTN5_ENST00000279463.3_Silent_p.L609L|CNTN5_ENST00000418526.2_Silent_p.L535L|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Silent_p.L609L|CNTN5_ENST00000528682.1_Silent_p.L609L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	609	Ig-like C2-type 6.				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)		ACTGGACTCTGAAAGGACAGC	0.383																																																	0													98	94	95					11																	100064338		1863	4096	5959	SO:0001819	synonymous_variant	0			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.1827G>T	11.37:g.100064338G>T			A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L609	ENST00000524871.1	37	c.1827	CCDS53696.1	11																																																																																			CNTN5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149972		0.383	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2		0	44	0	G	NM_014361		100064338	1			no_errors	ENST00000279463	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.003	T	T	100064338	G	T	100064338	2	4	158	1	0	0	0	0	0	0	0	1	3651	1277	45	3		3	CNTN5	11	100064338	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	22336654	100064338	34942178	134	40207											
DYNC2H1	79659	genome.wustl.edu	37	chr11	102988516	102988516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaggtcaggtgtggcagcGctatgttcctcatccatgga	9	10	12	10	1	2	0	2	0	0	0	4	1	4	1	2	4	2	3	2	4	2	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:102988516G>A	ENST00000375735.2	+	6	1067	c.923G>A	c.(922-924)cGc>cAc	p.R308H	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R308H|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R308H	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	308	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)		GTGTGGCAGCGCTATGTTCCT	0.373																																																	0													103	99	100					11																	102988516		1897	4136	6033	SO:0001583	missense	0			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.923G>A	11.37:g.102988516G>A	ENSP00000364887:p.Arg308His		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R308H	ENST00000375735.2	37	c.923	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256767	0.39896	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.57907	0.37;0.37;0.37	5.26	4.36	0.52297	Dynein heavy chain, domain-1 (1);	4.550770	0.01613	N	0.022630	T	0.74230	0.3689	M	0.63428	1.95	0.42105	D	0.991355	D;B;P	0.89917	1.0;0.012;0.485	D;B;B	0.74023	0.982;0.01;0.371	T	0.50363	-0.8837	10	0.49607	T	0.09	.	14.1547	0.65410	0.0723:0.0:0.9277:0.0	.	308;308;308	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	H	308	ENSP00000364887:R308H;ENSP00000334021:R308H;ENSP00000381167:R308H	ENSP00000334021:R308H	R	+	2	0	DYNC2H1	102493726	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	1.993000	0.40747	1.213000	0.43380	-0.133000	0.14855	CGC	DYNC2H1	-	pfam_Dynein_heavy_dom-1	ENSG00000187240		0.373	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	89	0	G	XM_370652		102988516	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	34.13	83	43	SNP	1.000	A	A	102988516	G	A	102988516	3	1	158	1	0	0	0	0	1	0	0	0	4860	1087	38	1	945	1	DYNC2H1	11	102988516	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	2924178	102988516	32018000	135	40208											
C11orf1	64776	genome.wustl.edu	37	chr11	111753212	111753212	+	Silent	SNP	C	C	A	0	0	0	1	1	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	agtttttccagtatggatggCgatgcaccactaatgagaat	12	12	10	7	1	0	1	0	1	0	1	1	4	1	2	2	2	1	3	2	2	3	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:111753212C>A	ENST00000260276.3	+	2	503	c.166C>A	c.(166-168)Cga>Aga	p.R56R	C11orf1_ENST00000529270.1_Silent_p.R96R|C11orf1_ENST00000528125.1_Silent_p.R10R|C11orf1_ENST00000530214.1_Silent_p.R56R	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	56						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)		GTATGGATGGCGATGCACCAC	0.468																																																	0													138	114	122					11																	111753212		2201	4297	6498	SO:0001819	synonymous_variant	0			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.166C>A	11.37:g.111753212C>A			Q6I9X7|Q9NQC6	Silent	SNP	pfam_UPF0686	p.R56	ENST00000260276.3	37	c.166	CCDS8350.1	11																																																																																			C11orf1	-	pfam_UPF0686	ENSG00000137720		0.468	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf1	HGNC	protein_coding	OTTHUMT00000391650.1	-	0	58	0	C	NM_022761		111753212	1	tier1	-	no_errors	ENST00000260276	ensembl	human	known	74_37	silent	20.69	46	12	SNP	1.000	A	A	111753212	C	A	111753212	2	1	158	1	0	0	0	0	0	0	0	1	1634	760	27	2		2	C11orf1	11	111753212	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	8764696	111753212	23253304	136	40209											
NTM	50863	genome.wustl.edu	37	chr11	132016295	132016295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgagcaacacccaaaCgcagtacagcatcgagatcc	13	6	7	15	2	1	2	0	1	1	1	3	3	2	2	3	0	5	4	3	0	3	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr11:132016295C>T	ENST00000374786.1	+	2	766	c.287C>T	c.(286-288)aCg>aTg	p.T96M	NTM_ENST00000374791.3_Missense_Mutation_p.T96M|NTM_ENST00000425719.2_Missense_Mutation_p.T96M|NTM_ENST00000539799.1_Missense_Mutation_p.T96M|NTM_ENST00000427481.2_Missense_Mutation_p.T87M|NTM_ENST00000374784.1_Missense_Mutation_p.T96M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	96	Ig-like C2-type 1.				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						AACACCCAAACGCAGTACAGC	0.577																																																	0													194	135	155					11																	132016295		2201	4297	6498	SO:0001583	missense	0			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.287C>T	11.37:g.132016295C>T	ENSP00000363918:p.Thr96Met		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T96M	ENST00000374786.1	37	c.287	CCDS8491.1	11	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328640	0.60743	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170160	0.52532	D	0.000064	T	0.32164	0.0820	N	0.25201	0.72	0.40809	D	0.983408	D;P;P;P;P;P	0.55172	0.97;0.941;0.686;0.941;0.872;0.686	P;P;P;P;P;P	0.54372	0.75;0.75;0.635;0.75;0.541;0.635	T	0.07443	-1.0772	10	0.62326	D	0.03	-25.1658	10.5623	0.45152	0.0:0.7956:0.1331:0.0713	.	96;87;96;96;96;96	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	M	96;96;87;87;96;96;96	ENSP00000363923:T96M;ENSP00000437668:T96M;ENSP00000448104:T87M;ENSP00000416320:T87M;ENSP00000363918:T96M;ENSP00000396722:T96M;ENSP00000363916:T96M	ENSP00000363916:T96M	T	+	2	0	NTM	131521505	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.300000	0.43620	2.691000	0.91804	0.655000	0.94253	ACG	NTM	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000182667		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	-	0	65	0	C	NM_016522		132016295	1	tier1	-	no_errors	ENST00000539799	ensembl	human	known	74_37	missense	28.57	30	12	SNP	1.000	T	T	132016295	C	T	132016295	3	4	158	1	0	0	0	0	1	0	0	0	10738	536	19	1	379	1	NTM	11	132016295	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	20263083	132016295	2990221	137	40210											
TAS2R50	259296	genome.wustl.edu	37	chr12	11138968	11138968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtattcctcaatttcatcttCccagtcatgtttccttcata	8	18	3	12	0	5	0	4	0	1	0	8	0	8	0	3	0	0	2	3	0	3	7			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:11138968C>T	ENST00000506868.1	-	1	543	c.492G>A	c.(490-492)ggG>ggA	p.G164G	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	164					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						ATTTCATCTTCCCAGTCATGT	0.388																																																	0													164	150	155					12																	11138968		2203	4300	6503	SO:0001819	synonymous_variant	0			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.492G>A	12.37:g.11138968C>T			P59545|Q2M255|Q645Y0	Silent	SNP	pfam_TAS2_rcpt	p.G164	ENST00000506868.1	37	c.492	CCDS8638.1	12																																																																																			TAS2R50	-	pfam_TAS2_rcpt	ENSG00000212126		0.388	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R50	HGNC	protein_coding	OTTHUMT00000370192.2	-	0	43	0	C	NM_176890		11138968	-1	tier1	-	no_errors	ENST00000506868	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.001	T	T	11138968	C	T	11138968	2	4	158	1	0	0	0	0	0	0	0	1	15631	842	30	3		3	TAS2R50	12	11138968	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09		11138968	122712927	138	40211											
PTPRO	5800	genome.wustl.edu	37	chr12	15734642	15734642	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccattactggccattcacGgaagaacctatagcctatgg	12	9	9	11	1	1	1	1	0	0	1	1	3	1	2	4	3	3	0	4	3	6	5	rs561282231	byFrequency	TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:15734642G>T	ENST00000281171.4	+	23	3492	c.3162G>T	c.(3160-3162)acG>acT	p.T1054T	PTPRO_ENST00000542557.1_Silent_p.T215T|PTPRO_ENST00000544244.1_Silent_p.T215T|PTPRO_ENST00000348962.2_Silent_p.T1026T|PTPRO_ENST00000445537.2_Silent_p.T243T|PTPRO_ENST00000442921.2_Silent_p.T243T	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1054	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)				GGCCATTCACGGAAGAACCTA	0.443																																																	0													111	99	103					12																	15734642		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3162G>T	12.37:g.15734642G>T			A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.T1054	ENST00000281171.4	37	c.3162	CCDS8675.1	12																																																																																			PTPRO	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000151490		0.443	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1		0	35	0	G			15734642	1			no_errors	ENST00000281171	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.000	T	T	15734642	G	T	15734642	2	4	158	1	0	0	0	0	0	0	0	1	12854	1103	39	2		2	PTPRO	12	15734642	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	4595674	15734642	118117253	139	40212											
BICD1	636	genome.wustl.edu	37	chr12	32490722	32490722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccacagacacccaacattCgggtcagcagtggcactcag	11	5	10	15	1	2	1	2	0	0	1	3	1	2	1	2	2	2	2	2	2	1	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:32490722C>T	ENST00000281474.5	+	7	2645	c.2542C>T	c.(2542-2544)Cgg>Tgg	p.R848W	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	848					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACCCAACATTCGGGTCAGCAG	0.507																																																	0													110	101	104					12																	32490722		2203	4300	6503	SO:0001583	missense	0			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2542C>T	12.37:g.32490722C>T	ENSP00000281474:p.Arg848Trp		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom	p.R848W	ENST00000281474.5	37	c.2542	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207218	0.39003	.	.	ENSG00000151746	ENST00000281474	T	0.48522	0.81	4.9	2.98	0.34508	.	0.156118	0.30302	N	0.009924	T	0.21022	0.0506	N	0.08118	0	0.80722	D	1	P	0.51537	0.946	B	0.33521	0.165	T	0.02885	-1.1098	9	.	.	.	.	12.1608	0.54103	0.2968:0.7032:0.0:0.0	.	848	Q96G01	BICD1_HUMAN	W	848	ENSP00000281474:R848W	.	R	+	1	2	BICD1	32381989	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.533000	0.45667	0.600000	0.29862	0.591000	0.81541	CGG	BICD1	-	NULL	ENSG00000151746		0.507	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1		0	34	0	C	NM_001714		32490722	1			no_errors	ENST00000281474	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	32490722	C	T	32490722	3	4	158	1	0	0	0	0	1	0	0	0	1430	875	31	1	2568	1	BICD1	12	32490722	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	16756080	32490722	101361173	140	40213											
ASB8	140461	genome.wustl.edu	37	chr12	48543170	48543173	+	Frame_Shift_Del	DEL	TTCC	TTCC	-																															tattctaaaagtaacaggtaTtccttcaaagaagctggcag																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	TTCC	TTCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:48543170_48543173delTTCC	ENST00000317697.3	-	4	1012_1015	c.843_846delGGAA	c.(841-846)aaggaafs	p.KE281fs	ASB8_ENST00000537754.1_5'Flank|ASB8_ENST00000536549.1_Frame_Shift_Del_p.KE281fs	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	281	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GTAACAGGTATTCCTTCAAAGAAG	0.525																																																	0																																										SO:0001589	frameshift_variant	0			AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"Ankyrin repeat domain containing"	17183	protein-coding gene	gene with protein product		615053	"ankyrin repeat and SOCS box-containing 8"			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.843_846delGGAA	12.37:g.48543170_48543173delTTCC	ENSP00000320893:p.Lys281fs		A8K1P2|Q547Q2	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.K281fs	ENST00000317697.3	37	c.846_843	CCDS8761.1	12																																																																																			ASB8	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C	ENSG00000177981		0.525	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB8	HGNC	protein_coding	OTTHUMT00000396497.1		0	37	0	TTCC			48543173	-1	tier1		no_errors	ENST00000317697	ensembl	human	known	74_37	frame_shift_del	32.26	21	10	DEL	0.993:1.000:1.000:0.999	-	-	48543173	TTCC	-	48543170	7	5	158	1	0	1	0	1	0	0	0	0	1030	1490	52	0	24	0	ASB8	12	48543170	Frame_Shift_Del	DEL	TTCC	TCGA-V5-AASV-01A-11D-A387-09	16052448	48543170	85308725	141	40214											
ESPL1	9700	genome.wustl.edu	37	chr12	53663026	53663027	+	Frame_Shift_Del	DEL	TC	TC	-																															cccctctacctggaacgaatTctctttgtcttactgcggaa																								rs267603537		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:53663026_53663027delTC	ENST00000257934.4	+	3	391_392	c.300_301delTC	c.(298-303)attctcfs	p.L101fs	ESPL1_ENST00000552462.1_Frame_Shift_Del_p.L101fs	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	101					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						TGGAACGAATTCTCTTTGTCTT	0.604																																					Colon(53;1069 1201 2587 5382)												0																																										SO:0001589	frameshift_variant	0			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.300_301delTC	12.37:g.53663028_53663029delTC	ENSP00000257934:p.Leu101fs			Frame_Shift_Del	DEL	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.F102fs	ENST00000257934.4	37	c.300_301	CCDS8852.1	12																																																																																			ESPL1	-	NULL	ENSG00000135476		0.604	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2		0	39	0	TC	NM_012291		53663027	1	tier1		no_errors	ENST00000257934	ensembl	human	known	74_37	frame_shift_del	17.24	24	5	DEL	0.999:1.000	-	-	53663027	TC	-	53663026	7	5	158	1	0	1	0	1	0	0	0	0	5269	1771	62	0	306	0	ESPL1	12	53663026	Frame_Shift_Del	DEL	TC	TCGA-V5-AASV-01A-11D-A387-09	5119856	53663026	80188869	142	40215											
TIMELESS	8914	genome.wustl.edu	37	chr12	56817430	56817430	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccacttgcaactcctcCtcttcctcctcctcctcctc	4	13	3	21	0	1	0	0	0	1	0	9	1	8	1	8	1	2	1	8	1	1	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:56817430C>T	ENST00000553532.1	-	17	2178	c.2028G>A	c.(2026-2028)gaG>gaA	p.E676E	TIMELESS_ENST00000229201.4_Silent_p.E675E|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCAActcctcctcttcctcct	0.537																																																	0													61	57	58					12																	56817430		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2028G>A	12.37:g.56817430C>T				Silent	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E676	ENST00000553532.1	37	c.2028	CCDS8918.1	12																																																																																			TIMELESS	-	NULL	ENSG00000111602		0.537	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1		0	23	0	C	NM_003920		56817430	-1			no_errors	ENST00000553532	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.994	T	T	56817430	C	T	56817430	2	4	158	1	0	0	0	0	0	0	0	1	15951	680	24	3		3	TIMELESS	12	56817430	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	3154404	56817430	77034465	143	40216											
TESC	54997	genome.wustl.edu	37	chr12	117484586	117484586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggagcatactttacatttCgatattcttccagagtgatg	11	14	9	7	1	1	2	0	1	1	1	3	5	2	3	1	1	3	1	1	1	3	7			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr12:117484586C>T	ENST00000335209.7	-	5	593	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	TESC_ENST00000541210.1_Missense_Mutation_p.R109Q|TESC_ENST00000535198.1_5'UTR|TESC_ENST00000392545.4_Missense_Mutation_p.R189Q			Q96BS2	CHP3_HUMAN	tescalcin	136	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)		CTTTACATTTCGATATTCTTC	0.622																																																	0													50	45	47					12																	117484586		2197	4283	6480	SO:0001583	missense	0			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.407G>A	12.37:g.117484586C>T	ENSP00000334785:p.Arg136Gln		F5H1Y5|Q9NWT9	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R189Q	ENST00000335209.7	37	c.566	CCDS9183.3	12	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548190	0.65311	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210	T;T;T	0.68765	-0.35;-0.35;-0.35	4.68	3.76	0.43208	EF-hand-like domain (1);	0.127910	0.49916	D	0.000125	T	0.55625	0.1932	L	0.47016	1.485	0.51767	D	0.999932	P	0.40211	0.707	B	0.36567	0.228	T	0.56559	-0.7959	10	0.48119	T	0.1	-1.6524	9.3289	0.38010	0.0:0.7688:0.1485:0.0827	.	136	Q96BS2	TESC_HUMAN	Q	136;189;109	ENSP00000334785:R136Q;ENSP00000376328:R189Q;ENSP00000445689:R109Q	ENSP00000334785:R136Q	R	-	2	0	TESC	115968969	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.673000	0.46858	1.147000	0.42369	0.555000	0.69702	CGA	TESC	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000088992		0.622	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESC	HGNC	protein_coding	OTTHUMT00000291363.2	-	0	63	0	C	NM_017899		117484586	-1	tier1	-	no_errors	ENST00000392545	ensembl	human	known	74_37	missense	32.00	34	16	SNP	1.000	T	T	117484586	C	T	117484586	3	4	158	1	0	0	0	0	1	0	0	0	15813	884	31	1	253	1	TESC	12	117484586	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	60667156	117484586	16367309	144	40217											
PAN3	255967	genome.wustl.edu	37	chr13	28830500	28830502	+	In_Frame_Del	DEL	AGA	AGA	-																															cacatacttctcctgctcccAgaagaagaagtcacactcca																								rs139494056		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr13:28830500_28830502delAGA	ENST00000380958.3	+	7	1224_1226	c.1072_1074delAGA	c.(1072-1074)agadel	p.R360del	PAN3_ENST00000399613.1_In_Frame_Del_p.R160del|PAN3_ENST00000282391.5_In_Frame_Del_p.R48del|PAN3_ENST00000483842.1_3'UTR	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)		TCCTGCTCCCAGAAGAAGAAGTC	0.443																																																	0																																										SO:0001651	inframe_deletion	0			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.1072_1074delAGA	13.37:g.28830506_28830508delAGA	ENSP00000370345:p.Arg360del			In_Frame_Del	DEL	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom	p.R360in_frame_del	ENST00000380958.3	37	c.1072_1074	CCDS9329.2	13																																																																																			PAN3	-	NULL	ENSG00000152520		0.443	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4		0	108	0	AGA	NM_175854		28830502	1	tier1		no_errors	ENST00000380958	ensembl	human	known	74_37	in_frame_del	24.72	67	22	DEL	1.000:1.000:1.000	-	-	28830502	AGA	-	28830500	7	5	158	1	0	1	0	1	0	0	0	0	11454	180	7	0	1098	0	PAN3	13	28830500	In_Frame_Del	DEL	AGA	TCGA-V5-AASV-01A-11D-A387-09		28830500	86339378	145	40218											
EXOSC8	11340	genome.wustl.edu	37	chr13	37576435	37576437	+	In_Frame_Del	DEL	AGG	AGG	-																															tggaacctctggagtattacAggagatttctggtgagtaaa																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr13:37576435_37576437delAGG	ENST00000389704.3	+	2	308_310	c.43_45delAGG	c.(43-45)aggdel	p.R16del	ALG5_ENST00000496689.1_5'Flank|ALG5_ENST00000413537.2_5'Flank|ALG5_ENST00000443765.1_5'Flank|EXOSC8_ENST00000489088.1_3'UTR|ALG5_ENST00000239891.3_5'Flank	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	16					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)		GGAGTATTACAGGAGATTTCTGG	0.32																																																	0																																										SO:0001651	inframe_deletion	0			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.43_45delAGG	13.37:g.37576435_37576437delAGG	ENSP00000374354:p.Arg16del		O43480|Q5TBA5	In_Frame_Del	DEL	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.R16in_frame_del	ENST00000389704.3	37	c.43_45	CCDS31958.1	13																																																																																			EXOSC8	-	NULL	ENSG00000120699		0.32	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC8	HGNC	protein_coding	OTTHUMT00000044535.2		0	24	0	AGG	NM_181503		37576437	1	tier1		no_errors	ENST00000389704	ensembl	human	known	74_37	in_frame_del	23.68	29	9	DEL	1.000:1.000:1.000	-	-	37576437	AGG	-	37576435	7	5	158	1	0	1	0	1	0	0	0	0	5336	179	7	0	49	0	EXOSC8	13	37576435	In_Frame_Del	DEL	AGG	TCGA-V5-AASV-01A-11D-A387-09	8745935	37576435	77593443	146	40219											
CHD8	57680	genome.wustl.edu	37	chr14	21897312	21897312	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgcacctgCagctggatagttactacctt	6	13	11	11	0	0	0	0	0	0	0	0	1	0	1	2	2	7	7	2	2	3	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:21897312C>A	ENST00000557364.1	-	3	1289	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L	RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.L63L|CHD8_ENST00000399982.2_Silent_p.L342L			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	342	Gln-rich.				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)		GCTGCACCTGCAGCTGGATAG	0.567																																																	0													99	114	109					14																	21897312		2090	4232	6322	SO:0001819	synonymous_variant	0			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.1026G>T	14.37:g.21897312C>A			Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L342	ENST00000557364.1	37	c.1026	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.567	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	-	0	74	0	C	NM_020920		21897312	-1	tier1	-	no_errors	ENST00000399982	ensembl	human	known	74_37	silent	33.64	71	36	SNP	1.000	A	A	21897312	C	A	21897312	2	1	158	1	0	0	0	0	0	0	0	1	3338	697	25	3		3	CHD8	14	21897312	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09		21897312	85452228	147	40220											
LRRC16B	90668	genome.wustl.edu	37	chr14	24530854	24530854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggggcactgctggagcaagCaggacaggacattcagaaca	14	4	14	9	0	1	1	1	0	0	1	1	4	1	4	0	5	4	4	0	5	2	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:24530854C>A	ENST00000342740.5	+	27	2607	c.2453C>A	c.(2452-2454)gCa>gAa	p.A818E	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	818						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)		CTGGAGCAAGCAGGACAGGAC	0.597																																																	0													83	58	66					14																	24530854		2203	4300	6503	SO:0001583	missense	0			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.2453C>A	14.37:g.24530854C>A	ENSP00000340467:p.Ala818Glu		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.A818E	ENST00000342740.5	37	c.2453	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945591	0.73672	.	.	ENSG00000186648	ENST00000342740	T	0.17528	2.27	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.33962	0.0881	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.00628	-1.1637	10	0.42905	T	0.14	-14.6594	14.2767	0.66184	0.0:1.0:0.0:0.0	.	818	Q8ND23	LR16B_HUMAN	E	818	ENSP00000340467:A818E	ENSP00000340467:A818E	A	+	2	0	LRRC16B	23600694	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.708000	0.61859	2.735000	0.93741	0.655000	0.94253	GCA	LRRC16B	-	NULL	ENSG00000186648		0.597	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	-	0	20	0	C	NM_138360		24530854	1	tier1	-	no_errors	ENST00000342740	ensembl	human	known	74_37	missense	25.00	33	11	SNP	1.000	A	A	24530854	C	A	24530854	3	1	158	1	0	0	0	0	1	0	0	0	9007	710	25	3	2559	3	LRRC16B	14	24530854	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	2633542	24530854	82818686	148	40221											
CLEC14A	161198	genome.wustl.edu	37	chr14	38725089	38725089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctcggccgcctgccGcttcatggtagcgtggtgca	3	9	14	15	4	1	0	1	0	0	0	3	0	2	0	5	4	3	3	5	4	1	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:38725089G>A	ENST00000342213.2	-	1	485	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	47	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCCGCCTGCCGCTTCATGGTA	0.761																																																	0													4	5	4					14																	38725089		1869	3730	5599	SO:0001583	missense	0				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.139C>T	14.37:g.38725089G>A	ENSP00000353013:p.Arg47Trp		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R47W	ENST00000342213.2	37	c.139	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646569	0.47258	.	.	ENSG00000176435	ENST00000342213	T	0.36878	1.23	3.96	-2.02	0.07388	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.333064	0.20802	N	0.085409	T	0.33089	0.0851	N	0.14661	0.345	0.09310	N	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.28870	-1.0030	10	0.36615	T	0.2	-13.9423	8.5838	0.33646	0.0874:0.0:0.2006:0.712	.	47	Q86T13	CLC14_HUMAN	W	47	ENSP00000353013:R47W	ENSP00000353013:R47W	R	-	1	2	CLEC14A	37794840	0.019000	0.18553	0.102000	0.21198	0.952000	0.60782	0.773000	0.26661	-0.365000	0.08076	-0.293000	0.09583	CGG	CLEC14A	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000176435		0.761	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	-	0	16	0	G	NM_175060		38725089	-1	tier1	-	no_errors	ENST00000342213	ensembl	human	known	74_37	missense	43.75	18	14	SNP	0.037	A	A	38725089	G	A	38725089	3	1	158	1	0	0	0	0	1	0	0	0	3506	1086	38	1	1337	1	CLEC14A	14	38725089	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	14194235	38725089	68624451	149	40222											
FANCM	57697	genome.wustl.edu	37	chr14	45623219	45623219	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgggaatgagatcattaTatttcttcctttgtggaatt	12	17	8	4	0	2	1	1	1	1	1	3	4	3	3	1	2	0	0	1	2	5	6			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:45623219T>C	ENST00000267430.5	+	6	1232	c.1147T>C	c.(1147-1149)Tat>Cat	p.Y383H	FANCM_ENST00000556036.1_Missense_Mutation_p.Y383H|FANCM_ENST00000542564.2_Missense_Mutation_p.Y357H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	383					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						GAGATCATTATATTTCTTCCT	0.289								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													124	126	125					14																	45623219		2203	4299	6502	SO:0001583	missense	0	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.1147T>C	14.37:g.45623219T>C	ENSP00000267430:p.Tyr383His		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y383H	ENST00000267430.5	37	c.1147	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590878	0.46214	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.14893	2.54;2.54;2.47	4.88	3.71	0.42584	.	0.238237	0.44097	D	0.000486	T	0.24392	0.0591	M	0.83483	2.645	0.31259	N	0.693153	P;P;B	0.46859	0.885;0.58;0.371	B;B;B	0.41466	0.358;0.251;0.141	T	0.36311	-0.9753	10	0.48119	T	0.1	.	10.9084	0.47094	0.1409:0.0:0.0:0.8591	.	357;383;383	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	H	383;383;357	ENSP00000450596:Y383H;ENSP00000267430:Y383H;ENSP00000442493:Y357H	ENSP00000267430:Y383H	Y	+	1	0	FANCM	44692969	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.968000	0.76086	0.793000	0.33875	0.383000	0.25322	TAT	FANCM	-	superfamily_P-loop_NTPase	ENSG00000187790		0.289	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0	53	0	T	XM_048128		45623219	1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	43.66	40	31	SNP	1.000	C	C	45623219	T	C	45623219	3	2	158	1	0	0	0	0	1	0	0	0	5693	1406	49	4	1169	4	FANCM	14	45623219	Missense_Mutation	SNP	T	TCGA-V5-AASV-01A-11D-A387-09	6898130	45623219	61726321	150	40223											
PSMA3	5684	genome.wustl.edu	37	chr14	58724482	58724482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ggcagtagcaggtttgttggCagatgctcgttctttagcag	7	13	14	7	1	1	1	0	0	1	1	2	1	1	1	0	3	3	9	0	3	2	6			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr14:58724482C>T	ENST00000216455.4	+	4	338	c.248C>T	c.(247-249)gCa>gTa	p.A83V	PSMA3_ENST00000412908.2_Missense_Mutation_p.A83V|PSMA3_ENST00000557508.1_Missense_Mutation_p.A8V	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GGTTTGTTGGCAGATGCTCGT	0.353																																																	0													108	101	104					14																	58724482		2203	4300	6503	SO:0001583	missense	0				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"Proteasome (prosome, macropain) subunits"	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.248C>T	14.37:g.58724482C>T	ENSP00000216455:p.Ala83Val		B2RCK6|Q86U83|Q8N1D8|Q9BS70	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.A83V	ENST00000216455.4	37	c.248	CCDS9731.1	14	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759577	0.89932	.	.	ENSG00000100567	ENST00000216455;ENST00000412908;ENST00000557508	T;T;T	0.32515	1.45;1.45;1.45	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.52629	0.1746	M	0.92219	3.285	0.80722	D	1	P;P	0.52692	0.945;0.955	B;P	0.45913	0.29;0.497	T	0.68439	-0.5408	10	0.62326	D	0.03	-13.7775	18.9069	0.92466	0.0:1.0:0.0:0.0	.	83;83	P25788-2;P25788	.;PSA3_HUMAN	V	83;83;8	ENSP00000216455:A83V;ENSP00000390491:A83V;ENSP00000452056:A8V	ENSP00000216455:A83V	A	+	2	0	PSMA3	57794235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.552000	0.86080	0.655000	0.94253	GCA	PSMA3	-	pfam_Proteasome_sua/b	ENSG00000100567		0.353	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1	-	0	55	0	C	NM_002788		58724482	1	tier1	-	no_errors	ENST00000216455	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	58724482	C	T	58724482	3	4	158	1	0	0	0	0	1	0	0	0	12710	710	25	3	262	3	PSMA3	14	58724482	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	13101263	58724482	48625058	151	40224											
PDIA3	2923	genome.wustl.edu	37	chr15	44038854	44038854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaacttcgagagtcgcatCtccgacacgggctctgcggg	8	7	13	13	5	2	1	0	0	2	1	5	4	2	1	1	2	2	2	1	2	1	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr15:44038854C>T	ENST00000300289.5	+	1	265	c.117C>T	c.(115-117)atC>atT	p.I39I	CATSPER2P1_ENST00000381680.2_RNA|PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_5'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	39	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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 redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AGAGTCGCATCTCCGACACGG	0.682																																																	0													34	33	33					15																	44038854		2156	4246	6402	SO:0001819	synonymous_variant	0				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"Protein disulfide isomerases"	4606	protein-coding gene	gene with protein product		602046	"glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3"	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.117C>T	15.37:g.44038854C>T			Q13453|Q14255|Q8IYF8|Q9UMU7	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.I39	ENST00000300289.5	37	c.117	CCDS10101.1	15																																																																																			PDIA3	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	ENSG00000167004		0.682	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA3	HGNC	protein_coding	OTTHUMT00000103532.3	-	0	61	0	C	NM_005313		44038854	1	tier1	-	no_errors	ENST00000300289	ensembl	human	known	74_37	silent	26.39	53	19	SNP	0.998	T	T	44038854	C	T	44038854	2	4	158	1	0	0	0	0	0	0	0	1	11708	903	32	3		3	PDIA3	15	44038854	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09		44038854	58492538	152	40225											
UNC13C	440279	genome.wustl.edu	37	chr15	54307297	54307297	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataatgaaccacaaggcCagtgggttggccaatatgat	13	9	12	7	0	0	2	0	2	0	0	0	3	0	3	3	4	1	1	3	4	5	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr15:54307297C>T	ENST00000260323.11	+	1	2197	c.2197C>T	c.(2197-2199)Cag>Tag	p.Q733*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.Q733*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q733*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	733					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)		ACCACAAGGCCAGTGGGTTGG	0.413																																																	0													33	31	31					15																	54307297		1869	4115	5984	SO:0001587	stop_gained	0			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.2197C>T	15.37:g.54307297C>T	ENSP00000260323:p.Gln733*		Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.Q733*	ENST00000260323.11	37	c.2197	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.481735	0.98312	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.79	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	14.4622	0.67459	0.0:0.589:0.411:0.0	.	.	.	.	X	733	.	ENSP00000260323:Q733X	Q	+	1	0	UNC13C	52094589	0.974000	0.33945	0.596000	0.28811	0.967000	0.64934	2.490000	0.45294	1.390000	0.46547	0.650000	0.86243	CAG	UNC13C	-	NULL	ENSG00000137766		0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	15	0	C	NM_173166		54307297	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	nonsense	38.46	16	10	SNP	0.769	T	T	54307297	C	T	54307297	4	4	158	1	0	0	0	0	0	1	0	0	17035	595	21	3	2199	3	UNC13C	15	54307297	Nonsense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	10268443	54307297	48224095	153	40226											
RAB11A	8766	genome.wustl.edu	37	chr15	66180064	66180064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccgcattgtttctcagaaGcaaatgtcagacagacgcga	13	9	9	10	3	2	3	2	0	1	3	3	4	2	3	1	0	2	3	1	0	3	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr15:66180064G>A	ENST00000261890.2	+	5	665	c.537G>A	c.(535-537)aaG>aaA	p.K179K	RAB11A_ENST00000565075.1_Silent_p.K161K|RAB11A_ENST00000564910.1_Silent_p.K109K|RAB11A_ENST00000435304.2_Missense_Mutation_p.A148T|RAB11A_ENST00000569896.1_Missense_Mutation_p.A148T	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	179					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						TTTCTCAGAAGCAAATGTCAG	0.383																																																	0													104	92	96					15																	66180064		2201	4299	6500	SO:0001819	synonymous_variant	0			X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"RAB, member RAS oncogene"	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.537G>A	15.37:g.66180064G>A			B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A148T	ENST00000261890.2	37	c.442	CCDS10212.1	15	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579914	0.46006	.	.	ENSG00000103769	ENST00000435304	T	0.80653	-1.4	5.45	4.54	0.55810	.	.	.	.	.	T	0.75708	0.3886	.	.	.	0.25387	N	0.988565	B	0.22211	0.066	B	0.25759	0.063	T	0.67181	-0.5735	8	0.52906	T	0.07	.	14.3534	0.66719	0.0715:0.0:0.9285:0.0	.	148	B4DT13	.	T	148	ENSP00000405767:A148T	ENSP00000405767:A148T	A	+	1	0	RAB11A	63967118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.778000	0.62368	1.291000	0.44653	0.655000	0.94253	GCA	RAB11A	-	superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000103769		0.383	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11A	HGNC	protein_coding	OTTHUMT00000256864.1		0	37	0	G			66180064	1			no_errors	ENST00000435304	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A	A	66180064	G	A	66180064	2	1	158	1	0	0	0	0	0	0	0	1	12936	962	34	3		3	RAB11A	15	66180064	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	11872767	66180064	36351328	154	40227											
FEM1B	10116	genome.wustl.edu	37	chr15	68582270	68582270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgtggagccacagcattgCactttgcagctgaagctggg	9	10	13	9	0	0	1	0	1	0	0	0	2	0	2	1	2	6	5	1	2	1	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr15:68582270C>T	ENST00000306917.4	+	2	1189	c.574C>T	c.(574-576)Cac>Tac	p.H192Y		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	192					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CACAGCATTGCACTTTGCAGC	0.458																																																	0													71	62	65					15																	68582270		2200	4298	6498	SO:0001583	missense	0				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.574C>T	15.37:g.68582270C>T	ENSP00000307298:p.His192Tyr		O43146	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H192Y	ENST00000306917.4	37	c.574	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891509	0.72524	.	.	ENSG00000169018	ENST00000306917	T	0.79247	-1.25	5.77	5.77	0.91146	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.88291	0.6397	M	0.84948	2.725	0.80722	D	1	D	0.63880	0.993	P	0.59761	0.863	D	0.88936	0.3376	10	0.56958	D	0.05	-11.7405	18.9741	0.92728	0.0:1.0:0.0:0.0	.	192	Q9UK73	FEM1B_HUMAN	Y	192	ENSP00000307298:H192Y	ENSP00000307298:H192Y	H	+	1	0	FEM1B	66369324	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.788000	0.85771	2.717000	0.92951	0.555000	0.69702	CAC	FEM1B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000169018		0.458	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	-	0	21	0	C			68582270	1	tier1	-	no_errors	ENST00000306917	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	T	T	68582270	C	T	68582270	3	4	158	1	0	0	0	0	1	0	0	0	5832	710	25	3	580	3	FEM1B	15	68582270	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	2402206	68582270	33949122	155	40228											
KIF7	374654	genome.wustl.edu	37	chr15	90191892	90191892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcggttgcggatgttctggGcgcggctggcgtagttgagg	3	10	20	8	6	1	1	0	1	1	0	1	2	1	2	0	6	1	5	0	6	1	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr15:90191892G>A	ENST00000394412.3	-	5	1113	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	346	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GATGTTCTGGGCGCGGCTGGC	0.711																																																	0													28	32	31					15																	90191892		688	1590	2278	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1037C>T	15.37:g.90191892G>A	ENSP00000377934:p.Ala346Val		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A346V	ENST00000394412.3	37	c.1037	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	g	25.1	4.598831	0.87055	.	.	ENSG00000166813	ENST00000394412	T	0.74526	-0.85	4.37	4.37	0.52481	Kinesin, motor domain (3);	.	.	.	.	T	0.82029	0.4948	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84720	0.0739	9	0.87932	D	0	.	16.9192	0.86159	0.0:0.0:1.0:0.0	.	346	Q2M1P5	KIF7_HUMAN	V	346	ENSP00000377934:A346V	ENSP00000377934:A346V	A	-	2	0	KIF7	87992896	1.000000	0.71417	0.949000	0.38748	0.197000	0.23852	9.321000	0.96353	1.981000	0.57761	0.556000	0.70494	GCC	KIF7	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000166813		0.711	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1		0	8	0	G	NM_198525		90191892	-1			no_errors	ENST00000394412	ensembl	human	known	74_37	missense	33.33	6	3	SNP	1.000	A	A	90191892	G	A	90191892	3	1	158	1	0	0	0	0	1	0	0	0	8336	1203	42	3	3054	3	KIF7	15	90191892	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	21609622	90191892	12339500	156	40229											
IGF1R	3480	genome.wustl.edu	37	chr15	99434834	99434834	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcgagtgcatgcaggagtgCccctcgggcttcatccgcaa	7	7	14	13	3	1	0	1	0	0	0	3	2	2	1	3	3	3	4	3	3	1	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr15:99434834C>T	ENST00000268035.6	+	3	1532	c.921C>T	c.(919-921)tgC>tgT	p.C307C	RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Silent_p.C307C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	307					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)"	TGCAGGAGTGCCCCTCGGGCT	0.652																																																	0													40	38	39					15																	99434834		2197	4297	6494	SO:0001819	synonymous_variant	0			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.921C>T	15.37:g.99434834C>T			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.C307	ENST00000268035.6	37	c.921	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	ENSG00000140443		0.652	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2		0	55	0	C	NM_000875		99434834	1			no_errors	ENST00000268035	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T	T	99434834	C	T	99434834	2	4	158	1	0	0	0	0	0	0	0	1	7598	747	26	3		3	IGF1R	15	99434834	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	9242942	99434834	3096558	157	40230											
MYH11	4629	genome.wustl.edu	37	chr16	15818261	15818261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcttcttcttcgagtcGgagagctacaaggacagcgt	9	10	12	10	3	2	1	0	0	2	1	4	4	2	2	0	2	5	3	0	2	2	4	rs377329568		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr16:15818261G>A	ENST00000300036.5	-	31	4231	c.4122C>T	c.(4120-4122)tcC>tcT	p.S1374S	NDE1_ENST00000342673.5_3'UTR|MYH11_ENST00000396324.3_Silent_p.S1381S|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Silent_p.S1381S|NDE1_ENST00000571896.1_3'UTR|MYH11_ENST00000576790.2_Silent_p.S1374S|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000396354.1_3'UTR	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1374					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						TCTTCGAGTCGGAGAGCTACA	0.587			T	CBFB	AML								G|||	1	0.000199681	0	0	5008	,	,		17242	0		0	False		,,,				2504	0.001							Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													47	41	43					16																	15818261		2197	4300	6497	SO:0001819	synonymous_variant	0			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.4122C>T	16.37:g.15818261G>A			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.S1381	ENST00000300036.5	37	c.4143	CCDS10565.1	16																																																																																			MYH11	-	pfam_Myosin_tail	ENSG00000133392		0.587	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2		0	19	0	G	NM_001040113		15818261	-1			no_errors	ENST00000396324	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.654	A	A	15818261	G	A	15818261	2	1	158	1	0	0	0	0	0	0	0	1	10069	1103	39	1		1	MYH11	16	15818261	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09		15818261	74536492	158	40231											
SULT1A1	6817	genome.wustl.edu	37	chr16	28617217	28617217	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgaagcgctcattctgCgccacggtgaaggtggtctt	7	10	13	11	4	3	1	1	1	2	0	4	2	3	1	1	3	2	2	1	3	2	2	rs202065838		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr16:28617217C>T	ENST00000395607.1	-	8	1086	c.813G>A	c.(811-813)gcG>gcA	p.A271A	SULT1A1_ENST00000395609.1_Silent_p.A271A|SULT1A1_ENST00000350842.4_Silent_p.A193A|SULT1A1_ENST00000569554.1_Silent_p.A271A|SULT1A1_ENST00000314752.7_Silent_p.A271A	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	271					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	GCTCATTCTGCGCCACGGTGA	0.622																																																	0								C	,,,,	1,4391		0,1,2195	27	22	24		813,813,813,813,579	1	1	16		24	2,8548		0,2,4273	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SULT1A1	NM_001055.3,NM_177529.2,NM_177530.2,NM_177534.2,NM_177536.3	,,,,	0,3,6468	TT,TC,CC		0.0234,0.0228,0.0232	,,,,	271/296,271/296,271/296,271/296,193/218	28617217	3,12939	2196	4275	6471	SO:0001819	synonymous_variant	0			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.813G>A	16.37:g.28617217C>T			Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.A271	ENST00000395607.1	37	c.813	CCDS32420.1	16																																																																																			SULT1A1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000196502		0.622	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A1	HGNC	protein_coding	OTTHUMT00000254694.2	-	0	56	0	C	NM_001055		28617217	-1	tier1	rs202065838	no_errors	ENST00000314752	ensembl	human	known	74_37	silent	25.00	60	20	SNP	0.992	T	T	28617217	C	T	28617217	2	4	158	1	0	0	0	0	0	0	0	1	15419	755	27	1		1	SULT1A1	16	28617217	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	12798956	28617217	61737536	159	40232											
DHRS7B	25979	genome.wustl.edu	37	chr17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-																															gatgttcttgctgctgtgggGaagaagaagaaagatgtgat																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:21094331_21094333delGAA	ENST00000395511.3	+	7	1163_1165	c.843_845delGAA	c.(841-846)gggaag>ggg	p.K285del	DHRS7B_ENST00000579303.1_In_Frame_Del_p.K270del|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	285						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507																																																	0																																										SO:0001651	inframe_deletion	0			BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	24547	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 1"					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.843_845delGAA	17.37:g.21094340_21094342delGAA	ENSP00000378887:p.Lys285del		B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	In_Frame_Del	DEL	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.K285in_frame_del	ENST00000395511.3	37	c.843_845	CCDS11215.1	17																																																																																			DHRS7B	-	NULL	ENSG00000109016		0.507	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHRS7B	HGNC	protein_coding	OTTHUMT00000444066.3		0	66	0	GAA	NM_015510		21094333	1	tier1		no_errors	ENST00000395511	ensembl	human	known	74_37	in_frame_del	27.91	62	24	DEL	0.926:0.978:0.996	-	-	21094333	GAA	-	21094331	7	5	158	1	0	1	0	1	0	0	0	0	4510	1161	41	0	869	0	DHRS7B	17	21094331	In_Frame_Del	DEL	GAA	TCGA-V5-AASV-01A-11D-A387-09		21094331	60100879	160	40233											
UBTF	7343	genome.wustl.edu	37	chr17	42286868	42286868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggcaggtggttcagctccCcattggacagcagctcctgg	6	8	14	13	1	1	0	1	0	0	0	3	1	3	1	3	5	3	5	3	5	0	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:42286868C>T	ENST00000302904.4	-	17	2249	c.1757G>A	c.(1756-1758)gGg>gAg	p.G586E	UBTF_ENST00000529383.1_Missense_Mutation_p.G586E|UBTF_ENST00000436088.1_Missense_Mutation_p.G586E|UBTF_ENST00000343638.5_Missense_Mutation_p.G549E|UBTF_ENST00000393606.3_Missense_Mutation_p.G549E|UBTF_ENST00000533177.1_Missense_Mutation_p.G549E|UBTF_ENST00000527034.1_Missense_Mutation_p.G549E|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.G549E			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	586					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)		GTTCAGCTCCCCATTGGACAG	0.602																																																	0													57	50	53					17																	42286868		2203	4300	6503	SO:0001583	missense	0			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.1757G>A	17.37:g.42286868C>T	ENSP00000302640:p.Gly586Glu		A8K6R8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	p.G586E	ENST00000302904.4	37	c.1757	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019315	0.93462	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	D;D;D;D;D;D;D;D;T	0.98150	-4.74;-4.03;-4.75;-4.74;-4.03;-4.74;-4.74;-4.03;2.07	5.16	5.16	0.70880	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	L	0.54323	1.7	0.80722	D	1	D;P;D	0.89917	1.0;0.946;0.999	D;P;D	0.97110	1.0;0.781;0.995	D	0.95999	0.8992	10	0.02654	T	1	-28.2886	18.2838	0.90107	0.0:1.0:0.0:0.0	.	549;549;586	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	E	549;586;549;549;586;549;549;586;173	ENSP00000345297:G549E;ENSP00000302640:G586E;ENSP00000431539:G549E;ENSP00000437180:G549E;ENSP00000390669:G586E;ENSP00000377231:G549E;ENSP00000432925:G549E;ENSP00000435708:G586E;ENSP00000431295:G173E	ENSP00000302640:G586E	G	-	2	0	UBTF	39642394	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.605000	0.82844	2.409000	0.81822	0.462000	0.41574	GGG	UBTF	-	superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000108312		0.602	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1		0	53	0	C	NM_014233		42286868	-1			no_errors	ENST00000302904	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	42286868	C	T	42286868	3	4	158	1	0	0	0	0	1	0	0	0	16958	623	22	3	557	3	UBTF	17	42286868	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	21192537	42286868	38908342	161	40234											
KIAA1267	284058	genome.wustl.edu	37	chr17	44248371	44248371	+	Nonsense_Mutation	SNP	A	A	T	1	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	cactagctgtaaatctctccAattcttctgaaattgaattg	12	15	5	9	0	3	2	0	2	3	0	5	2	4	2	1	0	1	2	1	0	6	6			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:44248371A>T	ENST00000262419.6	-	2	1609	c.1139T>A	c.(1138-1140)tTg>tAg	p.L380*	KANSL1_ENST00000576248.1_5'UTR|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.L380*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.L380*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.L380*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.L380*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	380					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)											AAATCTCTCCAATTCTTCTGA	0.448																																																	0													90	115	107					17																	44248371		2203	4300	6503	SO:0001587	stop_gained	0			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.1139T>A	17.37:g.44248371A>T	ENSP00000262419:p.Leu380*		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	NULL	p.L380*	ENST00000262419.6	37	c.1139	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	A	25.1	4.604177	0.87157	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	5.69	4.58	0.56647	.	0.073616	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2591	11.4797	0.50318	0.8132:0.1868:0.0:0.0	.	.	.	.	X	380	.	ENSP00000262419:L380X	L	-	2	0	KIAA1267	41604148	1.000000	0.71417	0.930000	0.37139	0.557000	0.35523	8.711000	0.91396	0.927000	0.37143	0.459000	0.35465	TTG	KANSL1	-	NULL	ENSG00000120071		0.448	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	-	0	64	0	A	NM_015443		44248371	-1	tier1	-	no_errors	ENST00000262419	ensembl	human	known	74_37	nonsense	62.34	29	48	SNP	1.000	T	T	44248371	A	T	44248371	4	4	158	1	0	0	0	0	0	1	0	0	8246	131	5	5	2234	5	KIAA1267	17	44248371	Nonsense_Mutation	SNP	A	TCGA-V5-AASV-01A-11D-A387-09	1961503	44248371	36946839	162	40235											
EPX	8288	genome.wustl.edu	37	chr17	56271184	56271186	+	In_Frame_Del	DEL	CAA	CAA	-																															cgcaccatcactggacggtgCaacaacaagtgcgtgcgggg																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CAA	CAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:56271184_56271186delCAA	ENST00000225371.5	+	4	566_568	c.456_458delCAA	c.(454-459)tgcaac>tgc	p.N154del		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	154					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CTGGACGGTGCAACAACAAGTGC	0.68																																																	0										6,4258		3,0,2129						4.1	1			32	5,8247		2,1,4123	no	coding	EPX	NM_000502.4		5,1,6252	A1A1,A1R,RR		0.0606,0.1407,0.0879				11,12505				SO:0001651	inframe_deletion	0			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.456_458delCAA	17.37:g.56271190_56271192delCAA	ENSP00000225371:p.Asn154del		Q4TVP3	In_Frame_Del	DEL	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.N154in_frame_del	ENST00000225371.5	37	c.456_458	CCDS11602.1	17																																																																																			EPX	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000121053		0.68	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1		0	43	0	CAA	NM_000502		56271186	1	tier1		no_errors	ENST00000225371	ensembl	human	known	74_37	in_frame_del	41.38	34	24	DEL	1.000:1.000:1.000	-	-	56271186	CAA	-	56271184	7	5	158	1	0	1	0	1	0	0	0	0	5216	718	25	0	470	0	EPX	17	56271184	In_Frame_Del	DEL	CAA	TCGA-V5-AASV-01A-11D-A387-09	12022813	56271184	24924026	163	40236											
SOX9	6662	genome.wustl.edu	37	chr17	70117939	70117939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcacaacgccgagctcaGcaagacgctgggcaagctct	10	6	11	14	3	2	1	1	0	1	1	2	2	2	1	1	1	5	6	1	1	3	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:70117939G>A	ENST00000245479.2	+	1	779	c.407G>A	c.(406-408)aGc>aAc	p.S136N		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	136					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|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 complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA 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)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCCGAGCTCAGCAAGACGCTG	0.716																																					Pancreas(42;83 1041 2320 35205 39456)												0													14	14	14					17																	70117939		2200	4295	6495	SO:0001583	missense	0			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.407G>A	17.37:g.70117939G>A	ENSP00000245479:p.Ser136Asn		Q53Y80	Missense_Mutation	SNP	pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S136N	ENST00000245479.2	37	c.407	CCDS11689.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276111	0.80580	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.94862	-3.54	3.83	3.83	0.44106	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.95915	0.8670	M	0.87456	2.885	0.80722	D	1	P	0.40578	0.722	P	0.46172	0.506	D	0.96991	0.9722	10	0.87932	D	0	.	15.7442	0.77926	0.0:0.0:1.0:0.0	.	136	P48436	SOX9_HUMAN	N	136	ENSP00000245479:S136N	ENSP00000245479:S136N	S	+	2	0	SOX9	67629534	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.526000	0.98042	1.694000	0.51137	0.436000	0.28706	AGC	SOX9	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000125398		0.716	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX9	HGNC	protein_coding	OTTHUMT00000389032.1	-	0	81	0	G	NM_000346		70117939	1	tier1	-	no_errors	ENST00000245479	ensembl	human	known	74_37	missense	55.65	51	64	SNP	1.000	A	A	70117939	G	A	70117939	3	1	158	1	0	0	0	0	1	0	0	0	15003	971	34	3	409	3	SOX9	17	70117939	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	13846755	70117939	11077271	164	40237											
EVPL	2125	genome.wustl.edu	37	chr17	74006238	74006238	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacctgggtgacctccttGgtcagcagatgaggctgcat	7	10	12	12	0	1	3	1	2	0	1	3	3	3	3	4	3	2	3	4	3	0	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr17:74006238G>T	ENST00000301607.3	-	22	3301	c.3048C>A	c.(3046-3048)acC>acA	p.T1016T	EVPL_ENST00000586740.1_Silent_p.T1038T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1016	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						TGACCTCCTTGGTCAGCAGAT	0.657																																																	0													62	68	66					17																	74006238		2203	4299	6502	SO:0001819	synonymous_variant	0			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.3048C>A	17.37:g.74006238G>T			A0AUV5	Silent	SNP	pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.T1016	ENST00000301607.3	37	c.3048	CCDS11737.1	17																																																																																			EVPL	-	NULL	ENSG00000167880		0.657	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	-	0	29	0	G	NM_001988		74006238	-1	tier1	-	no_errors	ENST00000301607	ensembl	human	known	74_37	silent	6.45	58	4	SNP	1.000	T	T	74006238	G	T	74006238	2	4	158	1	0	0	0	0	0	0	0	1	5308	1335	47	3		3	EVPL	17	74006238	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	3888299	74006238	7188972	165	40238											
ZNF521	25925	genome.wustl.edu	37	chr18	22805487	22805487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtggtgatgtggcattGcagctccacctcggtgccaa	7	10	14	10	1	0	2	0	2	0	0	2	2	1	2	3	3	3	3	3	3	1	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr18:22805487G>T	ENST00000361524.3	-	4	2543	c.2395C>A	c.(2395-2397)Caa>Aaa	p.Q799K	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q799K|ZNF521_ENST00000584787.1_Missense_Mutation_p.Q579K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	799					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)					ATGTGGCATTGCAGCTCCACC	0.458			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													159	142	148					18																	22805487		2203	4300	6503	SO:0001583	missense	0			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.2395C>A	18.37:g.22805487G>T	ENSP00000354794:p.Gln799Lys		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q799K	ENST00000361524.3	37	c.2395	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155555	0.38021	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.39592	1.07;1.07	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	N	0.12527	0.23	0.52501	D	0.999953	D	0.65815	0.995	D	0.74348	0.983	T	0.16188	-1.0411	10	0.05721	T	0.95	-31.7868	20.3539	0.98825	0.0:0.0:1.0:0.0	.	799	Q96K83	ZN521_HUMAN	K	799;833;799	ENSP00000354794:Q799K;ENSP00000382352:Q799K	ENSP00000354794:Q799K	Q	-	1	0	ZNF521	21059485	1.000000	0.71417	0.971000	0.41717	0.990000	0.78478	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CAA	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.458	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	41	0	G	NM_015461		22805487	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	T	T	22805487	G	T	22805487	3	4	158	1	0	0	0	0	1	0	0	0	18013	1328	46	3	1560	3	ZNF521	18	22805487	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09		22805487	55271761	166	40239											
B4GALT6	9331	genome.wustl.edu	37	chr18	29264323	29264325	+	In_Frame_Del	DEL	AGA	AGA	-																															cagacaggacgaagagagggAgaagaagaagatgaaggcga																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr18:29264323_29264325delAGA	ENST00000306851.5	-	1	361_363	c.65_67delTCT	c.(64-69)ttctcc>tcc	p.F22del	RP11-549B18.1_ENST00000565978.1_RNA|B4GALT6_ENST00000383131.3_In_Frame_Del_p.F22del|B4GALT6_ENST00000237019.7_In_Frame_Del_p.F22del	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	22					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)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			GAAGAGAGGGAGAAGAAGAAGAT	0.586																																																	0										1,4263		0,1,2131						4.6	1			179	2,8252		0,2,4125	no	coding	B4GALT6	NM_004775.3		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001651	inframe_deletion	0			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"Beta 4-glycosyltransferases"	929	protein-coding gene	gene with protein product	"UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.65_67delTCT	18.37:g.29264332_29264334delAGA	ENSP00000306459:p.Phe22del		O60514|Q6NT09	In_Frame_Del	DEL	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.F22in_frame_del	ENST00000306851.5	37	c.67_65	CCDS11900.1	18																																																																																			B4GALT6	-	NULL	ENSG00000118276		0.586	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT6	HGNC	protein_coding	OTTHUMT00000254942.2		0	89	0	AGA	NM_004775		29264325	-1	tier1		no_errors	ENST00000306851	ensembl	human	known	74_37	in_frame_del	30.14	51	22	DEL	1.000:1.000:1.000	-	-	29264325	AGA	-	29264323	7	5	158	1	0	1	0	1	0	0	0	0	1276	304	11	0	1117	0	B4GALT6	18	29264323	In_Frame_Del	DEL	AGA	TCGA-V5-AASV-01A-11D-A387-09	6458836	29264323	48812925	167	40240											
PIK3C3	5289	genome.wustl.edu	37	chr18	39550410	39550410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaagatcagatgagccGtcttgccaaggtaaaaaaag	16	7	10	8	1	3	4	2	1	1	3	3	4	3	4	2	1	2	1	2	1	6	2	rs376188539		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr18:39550410G>A	ENST00000262039.4	+	4	607	c.521G>A	c.(520-522)cGt>cAt	p.R174H	PIK3C3_ENST00000586545.1_Missense_Mutation_p.R174H|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R111H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	174	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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)	p.R174H(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CAGATGAGCCGTCTTGCCAAG	0.408										TSP Lung(28;0.18)			G|||	1	0.000199681	8e-04	0	5008	,	,		15988	0		0	False		,,,				2504	0				NSCLC(37;552 1060 2683 16430 37914)												1	Substitution - Missense(1)	cervix(1)						G	HIS/ARG	0,4406		0,0,2203	77	70	72		521	4.6	1	18		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3C3	NM_002647.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	174/888	39550410	1,13005	2203	4300	6503	SO:0001583	missense	0			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.521G>A	18.37:g.39550410G>A	ENSP00000262039:p.Arg174His		Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.R174H	ENST00000262039.4	37	c.521	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834693	0.91036	0.0	1.16E-4	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.79352	-1.26;-1.26	4.61	4.61	0.57282	Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.90349	0.6980	M	0.91818	3.245	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.969	D	0.92663	0.6143	9	.	.	.	.	17.8031	0.88593	0.0:0.0:1.0:0.0	.	111;174	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	H	174;111	ENSP00000262039:R174H;ENSP00000381845:R111H	.	R	+	2	0	PIK3C3	37804408	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.775000	0.98995	2.257000	0.74773	0.557000	0.71058	CGT	PIK3C3	-	pfam_PI3K_C2_dom,pirsf_PI3K_Vps34	ENSG00000078142		0.408	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	-	0	39	0	G	NM_002647		39550410	1	tier1	-	no_errors	ENST00000262039	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	A	A	39550410	G	A	39550410	3	1	158	1	0	0	0	0	1	0	0	0	11951	1145	40	1	535	1	PIK3C3	18	39550410	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	10286087	39550410	38526838	168	40241											
REXO1	57455	genome.wustl.edu	37	chr19	1828269	1828269	+	Silent	SNP	A	A	C	1	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	tacttgctgcccggctcggcAggggcggccagtggggtggg	3	7	20	11	3	0	0	0	0	0	0	1	0	0	0	2	8	3	3	2	8	1	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:1828269A>C	ENST00000170168.4	-	2	613	c.519T>G	c.(517-519)ccT>ccG	p.P173P	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	173						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCTCGGCAGGGGCGGCCA	0.687																																																	0													7	11	9					19																	1828269		2088	4141	6229	SO:0001819	synonymous_variant	0			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.519T>G	19.37:g.1828269A>C			Q9ULT2	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.P173	ENST00000170168.4	37	c.519	CCDS32866.1	19																																																																																			REXO1	-	NULL	ENSG00000079313		0.687	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	-	0	39	0	A	NM_020695		1828269	-1	tier1	-	no_errors	ENST00000170168	ensembl	human	known	74_37	silent	54.17	19	26	SNP	0.000	C	C	1828269	A	C	1828269	2	2	158	1	0	0	0	0	0	0	0	1	13286	175	7	4		4	REXO1	19	1828269	Silent	SNP	A	TCGA-V5-AASV-01A-11D-A387-09		1828269	57300714	169	40242											
PTPRS	5802	genome.wustl.edu	37	chr19	5212059	5212059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggcatagaggctgcgtgCgggcacttctgtgttgccac	6	10	15	10	2	1	1	0	0	1	1	1	1	1	1	1	3	3	5	1	3	2	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:5212059C>T	ENST00000587303.1	-	31	5071	c.4972G>A	c.(4972-4974)Gca>Aca	p.A1658T	PTPRS_ENST00000262963.6_Missense_Mutation_p.A1638T|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1620T|PTPRS_ENST00000592099.1_Missense_Mutation_p.A1211T|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1620T|PTPRS_ENST00000353284.2_Missense_Mutation_p.A1211T|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1658T|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000372412.4_Missense_Mutation_p.A1659T			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1658					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)	AGGCTGCGTGCGGGCACTTCT	0.627																																																	0													62	57	59					19																	5212059		2203	4300	6503	SO:0001583	missense	0			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.4972G>A	19.37:g.5212059C>T	ENSP00000467537:p.Ala1658Thr		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.A1659T	ENST00000587303.1	37	c.4975	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	c	13.51	2.259539	0.39995	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	2.47	1.4	0.22301	.	0.170258	0.36815	N	0.002395	T	0.53433	0.1796	M	0.82823	2.61	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	0.91635	0.999;0.986;0.999;0.941;0.997;0.996	T	0.55585	-0.8118	10	0.87932	D	0	.	9.4096	0.38482	0.0:0.8892:0.0:0.1108	.	1240;1211;1215;1620;1658;1253	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	T	1253;1659;1658;1658;1649;1638;1620;1240;1215;1211	ENSP00000361489:A1659T;ENSP00000349932:A1658T;ENSP00000262963:A1638T;ENSP00000269907:A1620T;ENSP00000327313:A1211T	ENSP00000262963:A1638T	A	-	1	0	PTPRS	5163059	1.000000	0.71417	0.032000	0.17829	0.020000	0.10135	7.528000	0.81941	0.392000	0.25172	-0.342000	0.07992	GCA	PTPRS	-	NULL	ENSG00000105426		0.627	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2		0	45	0	C			5212059	-1			no_errors	ENST00000372412	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.991	T	T	5212059	C	T	5212059	3	4	158	1	0	0	0	0	1	0	0	0	12856	768	27	1	902	1	PTPRS	19	5212059	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	3383790	5212059	53916924	170	40243											
ELAVL1	1994	genome.wustl.edu	37	chr19	8028463	8028464	+	Frame_Shift_Del	DEL	AT	AT	-																															atggccatcgcggcttcttcAtagtttgtcatggtcacaaa																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:8028463_8028464delAT	ENST00000407627.2	-	6	1013_1014	c.884_885delAT	c.(883-885)tatfs	p.Y295fs	ELAVL1_ENST00000351593.5_Frame_Shift_Del_p.Y322fs|ELAVL1_ENST00000596459.1_Frame_Shift_Del_p.Y295fs	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	295	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CGGCTTCTTCATAGTTTGTCAT	0.5																																																	0																																										SO:0001589	frameshift_variant	0			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"RNA binding motif (RRM) containing"	3312	protein-coding gene	gene with protein product	"embryonic lethal, abnormal vision, drosophila, homolog-like 1", "Hu antigen R"	603466	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.884_885delAT	19.37:g.8028463_8028464delAT	ENSP00000385269:p.Tyr295fs		B4DVB8|Q53XN6|Q9BTT1	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.Y322fs	ENST00000407627.2	37	c.966_965	CCDS12193.1	19																																																																																			ELAVL1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000066044		0.5	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAVL1	HGNC	protein_coding	OTTHUMT00000461494.3		0	49	0	AT	NM_001419		8028464	-1	tier1		no_errors	ENST00000351593	ensembl	human	known	74_37	frame_shift_del	29.23	46	19	DEL	1.000:1.000	-	-	8028464	AT	-	8028463	7	5	158	1	0	1	0	1	0	0	0	0	5065	224	8	0	99	0	ELAVL1	19	8028463	Frame_Shift_Del	DEL	AT	TCGA-V5-AASV-01A-11D-A387-09	2816404	8028463	51100520	171	40244											
MUC16	94025	genome.wustl.edu	37	chr19	9084082	9084082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagaggtgggtgtagttGgggtctgtggtgaagaatga	8	11	18	4	0	1	4	0	2	1	2	2	4	2	4	1	5	0	2	1	5	3	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:9084082G>T	ENST00000397910.4	-	1	7936	c.7733C>A	c.(7732-7734)cCa>cAa	p.P2578Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2578	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						GGGTGTAGTTGGGGTCTGTGG	0.483																																																	0													180	176	178					19																	9084082		1997	4178	6175	SO:0001583	missense	0			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.7733C>A	19.37:g.9084082G>T	ENSP00000381008:p.Pro2578Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P2578Q	ENST00000397910.4	37	c.7733	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.889	-0.455828	0.04540	.	.	ENSG00000181143	ENST00000397910	T	0.03272	3.99	0.225	0.225	0.15325	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	.	.	.	D	0.69078	0.997	D	0.71184	0.972	T	0.41592	-0.9500	7	0.87932	D	0	.	.	.	.	.	2578	B5ME49	.	Q	2578	ENSP00000381008:P2578Q	ENSP00000381008:P2578Q	P	-	2	0	MUC16	8945082	0.216000	0.23585	0.168000	0.22838	0.171000	0.22731	0.364000	0.20325	0.300000	0.22699	0.305000	0.20034	CCA	MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	101	0	G	NM_024690		9084082	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	31.01	109	49	SNP	0.220	T	T	9084082	G	T	9084082	3	4	158	1	0	0	0	0	1	0	0	0	10011	1348	47	3	36126	3	MUC16	19	9084082	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	1055619	9084082	50044901	172	40245											
ZNF562	54811	genome.wustl.edu	37	chr19	9764000	9764000	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgaatgtgaacattaaaGgatgaggaatttctaaagga	17	12	10	2	0	1	3	0	3	1	0	1	6	1	6	0	3	1	0	0	3	7	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:9764000G>A	ENST00000448622.1	-	6	1068	c.906C>T	c.(904-906)tcC>tcT	p.S302S	ZNF562_ENST00000590155.1_Silent_p.S301S|ZNF562_ENST00000453792.2_Silent_p.S233S|ZNF562_ENST00000537617.1_Silent_p.S186S|ZNF562_ENST00000293648.4_Silent_p.S230S|ZNF562_ENST00000541032.1_Silent_p.S265S|ZNF562_ENST00000453372.2_Silent_p.S302S	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	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)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						GAACATTAAAGGATGAGGAAT	0.353																																																	0													88	88	88					19																	9764000		2203	4297	6500	SO:0001819	synonymous_variant	0			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"Zinc fingers, C2H2-type", "-"	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.906C>T	19.37:g.9764000G>A			Q32MN2|Q9NXS5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S302	ENST00000448622.1	37	c.906	CCDS45956.1	19																																																																																			ZNF562	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171466		0.353	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF562	HGNC	protein_coding	OTTHUMT00000450239.1	-	0	136	0	G	NM_017656		9764000	-1	tier1	-	no_errors	ENST00000448622	ensembl	human	known	74_37	silent	30.48	146	64	SNP	0.002	A	A	9764000	G	A	9764000	2	1	158	1	0	0	0	0	0	0	0	1	18041	987	35	3		3	ZNF562	19	9764000	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	679918	9764000	49364983	173	40246											
SMARCA4	6597	genome.wustl.edu	37	chr19	11123693	11123693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcctggccgacgagatGggcctggggaagaccatcca	9	5	15	12	2	0	2	0	0	0	2	2	5	2	3	5	5	0	1	5	5	1	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:11123693G>T	ENST00000429416.3	+	17	2624	c.2343G>T	c.(2341-2343)atG>atT	p.M781I	SMARCA4_ENST00000541122.2_Missense_Mutation_p.M781I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M781I|RN7SL192P_ENST00000584303.1_RNA|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000358026.2_Missense_Mutation_p.M781I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M781I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M781I	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	781	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGACGAGATGGGCCTGGGGA	0.577			"F, N, Mis"		NSCLC																																			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)											169	110	130					19																	11123693		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2343G>T	19.37:g.11123693G>T	ENSP00000395654:p.Met781Ile		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.M781I	ENST00000429416.3	37	c.2343	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760573	0.89932	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	4.73	4.73	0.59995	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98745	0.9578	H	0.99811	4.8	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.998;0.991;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.992;0.999;0.999	D	0.99177	1.0866	10	0.87932	D	0	-46.3851	16.6409	0.85098	0.0:0.0:1.0:0.0	.	781;781;781;781;781;781;781	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	I	781;781;845;781;781;781;781;781	ENSP00000395654:M781I;ENSP00000350720:M781I;ENSP00000343896:M781I;ENSP00000445036:M781I;ENSP00000392837:M781I;ENSP00000397783:M781I;ENSP00000414727:M781I	ENSP00000343896:M781I	M	+	3	0	SMARCA4	10984693	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.657000	0.98554	2.456000	0.83038	0.655000	0.94253	ATG	SMARCA4	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000127616		0.577	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0	44	0	G	NM_003072		11123693	1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	23.21	43	13	SNP	1.000	T	T	11123693	G	T	11123693	3	4	158	1	0	0	0	0	1	0	0	0	14815	1348	47	3	2401	3	SMARCA4	19	11123693	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	1359693	11123693	48005290	174	40247											
CYP4F8	11283	genome.wustl.edu	37	chr19	15730494	15730494	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtggagacaccaccgtcGcttgtgacgcctgccttcca	8	8	10	15	3	0	2	0	1	0	1	2	3	1	2	5	1	1	1	5	1	1	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:15730494G>A	ENST00000441682.2	+	0	510							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CACCACCGTCGCTTGTGACGC	0.512																																																	0													70	70	70					19																	15730494		2203	4300	6503			0			AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15730494G>A				RNA	SNP	-	NULL	ENST00000441682.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	9.648	1.140717	0.21205	.	.	ENSG00000186526	ENST00000441682	.	.	.	2.98	2.98	0.34508	.	0.083137	0.49305	U	0.000160	T	0.64046	0.2563	.	.	.	.	.	.	.	.	.	.	.	.	T	0.75505	-0.3294	5	0.54805	T	0.06	.	11.7531	0.51859	0.0:0.0:1.0:0.0	.	.	.	.	H	149	.	ENSP00000409702:R149H	R	+	2	0	CYP4F8	15591494	0.983000	0.35010	0.271000	0.24616	0.032000	0.12392	2.989000	0.49393	1.684000	0.51022	0.313000	0.20887	CGC	CYP4F8	-	-	ENSG00000186526		0.512	CYP4F8-201	KNOWN	basic	processed_transcript	CYP4F8	HGNC	processed_transcript		-	0	156	0	G	NM_007253		15730494	1	tier1	-	no_errors	ENST00000441682	ensembl	human	known	74_37	rna	48.78	102	100	SNP	0.955	A	A	15730494	G	A	15730494	1	1	158	0	1	0	0	0	0	0	0	0	4200	1087	38	1		1	CYP4F8	19	15730494	RNA	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	4606801	15730494	43398489	175	40248											
PLVAP	83483	genome.wustl.edu	37	chr19	17476376	17476376	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttggaggtctgagttctCgcgggccacgcgttcgatat	5	11	15	10	6	2	1	0	1	2	0	4	3	2	2	1	3	0	3	1	3	1	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:17476376C>A	ENST00000252590.4	-	3	959	c.898G>T	c.(898-900)Gag>Tag	p.E300*	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	300					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCTGAGTTCTCGCGGGCCACG	0.667																																																	0													34	32	32					19																	17476376		2203	4300	6503	SO:0001587	stop_gained	0			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.898G>T	19.37:g.17476376C>A	ENSP00000252590:p.Glu300*		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Nonsense_Mutation	SNP	pfam_PV-1	p.E300*	ENST00000252590.4	37	c.898	CCDS32952.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.055590	0.97241	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.41	5.41	0.78517	.	0.245531	0.40818	N	0.001003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-47.9196	14.6838	0.69035	0.0:1.0:0.0:0.0	.	.	.	.	X	300	.	ENSP00000252590:E300X	E	-	1	0	PLVAP	17337376	0.988000	0.35896	0.815000	0.32552	0.722000	0.41435	3.628000	0.54259	2.541000	0.85698	0.455000	0.32223	GAG	PLVAP	-	pfam_PV-1	ENSG00000130300		0.667	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	-	0	37	0	C	NM_031310		17476376	-1	tier1	-	no_errors	ENST00000252590	ensembl	human	known	74_37	nonsense	28.57	40	16	SNP	0.978	A	A	17476376	C	A	17476376	4	1	158	1	0	0	0	0	0	1	0	0	12155	893	31	2	446	2	PLVAP	19	17476376	Nonsense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	1745882	17476376	41652607	176	40249											
COMP	1311	genome.wustl.edu	37	chr19	18899065	18899065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtcggcatccggatcgcaggCgtctccgatgccatcgcggt	5	8	14	14	7	1	0	0	0	1	0	6	2	2	1	3	4	1	2	3	4	0	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:18899065C>T	ENST00000222271.2	-	9	975	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	COMP_ENST00000425807.1_Missense_Mutation_p.A258T|COMP_ENST00000542601.2_Missense_Mutation_p.A278T	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	311			A -> D (in EDM1). {ECO:0000269|PubMed:21922596}.		apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGATCGCAGGCGTCTCCGATG	0.637																																																	0													45	47	46					19																	18899065		2203	4300	6503	SO:0001583	missense	0			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.931G>A	19.37:g.18899065C>T	ENSP00000222271:p.Ala311Thr		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A311T	ENST00000222271.2	37	c.931	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696762	0.88830	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.99023	-5.34;-5.34;-5.34	3.68	3.68	0.42216	.	0.000000	0.64402	U	0.000001	D	0.97554	0.9199	M	0.83774	2.66	0.58432	D	0.999994	P;P	0.50066	0.749;0.931	B;B	0.37943	0.16;0.261	D	0.96359	0.9264	10	0.66056	D	0.02	-36.7101	6.9101	0.24331	0.0:0.8724:0.0:0.1276	.	258;311	B4DKJ3;P49747	.;COMP_HUMAN	T	278;311;258;298	ENSP00000439156:A278T;ENSP00000222271:A311T;ENSP00000403792:A258T	ENSP00000222271:A311T	A	-	1	0	COMP	18760065	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.793000	0.55484	1.909000	0.55274	0.484000	0.47621	GCC	COMP	-	pfam_Thrombospondin_3-like_rpt	ENSG00000105664		0.637	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1	-	0	45	0	C	NM_000095		18899065	-1	tier1	-	no_errors	ENST00000222271	ensembl	human	known	74_37	missense	61.76	25	42	SNP	1.000	T	T	18899065	C	T	18899065	3	4	158	1	0	0	0	0	1	0	0	0	3731	768	27	1	1386	1	COMP	19	18899065	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	1422689	18899065	40229918	177	40250											
CILP2	148113	genome.wustl.edu	37	chr19	19653755	19653755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctgctgcaaagcctccggGacccccatgcccaagaaata	11	7	8	15	1	1	1	0	0	1	1	2	2	2	2	5	1	4	2	5	1	4	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:19653755G>A	ENST00000291495.5	+	6	1036	c.951G>A	c.(949-951)ggG>ggA	p.G317G	CILP2_ENST00000586018.1_Silent_p.G323G	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	317	Ig-like C2-type.					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						AAGCCTCCGGGACCCCCATGC	0.567																																																	0													68	72	70					19																	19653755		2203	4300	6503	SO:0001819	synonymous_variant	0			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.951G>A	19.37:g.19653755G>A			Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.G317	ENST00000291495.5	37	c.951	CCDS12405.1	19																																																																																			CILP2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160161		0.567	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	-	0	85	0	G	NM_153221		19653755	1	tier1	-	no_errors	ENST00000291495	ensembl	human	known	74_37	silent	32.26	84	40	SNP	0.989	A	A	19653755	G	A	19653755	2	1	158	1	0	0	0	0	0	0	0	1	3437	1161	41	3		3	CILP2	19	19653755	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	754690	19653755	39475228	178	40251											
ZNF682	91120	genome.wustl.edu	37	chr19	20117176	20117176	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaaggtatgagaacctctTaaagactttgtcacattttt	13	15	7	6	0	2	2	1	1	1	2	2	3	2	2	1	1	1	2	1	1	5	6			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:20117176T>A	ENST00000397165.2	-	4	1295	c.1135A>T	c.(1135-1137)Aag>Tag	p.K379*	ZNF682_ENST00000397162.1_Nonsense_Mutation_p.K347*|ZNF682_ENST00000595736.1_Nonsense_Mutation_p.K303*|ZNF682_ENST00000597972.1_Nonsense_Mutation_p.K385*|ZNF682_ENST00000358523.5_Nonsense_Mutation_p.K347*|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	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)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GAGAACCTCTTAAAGACTTTG	0.368																																																	0													63	67	65					19																	20117176		2088	4256	6344	SO:0001587	stop_gained	0			AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"Zinc fingers, C2H2-type", "-"	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.1135A>T	19.37:g.20117176T>A	ENSP00000380351:p.Lys379*		B3KU64|E9PFJ5|Q96JV9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K379*	ENST00000397165.2	37	c.1135	CCDS42533.1	19	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567321	0.86439	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000341262;ENST00000358523	.	.	.	1.09	1.09	0.20402	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	3.0004	0.06011	0.0:0.2972:0.0:0.7028	.	.	.	.	X	379;347;48;347	.	ENSP00000340236:K48X	K	-	1	0	ZNF682	19978176	0.005000	0.15991	0.010000	0.14722	0.009000	0.06853	0.031000	0.13710	0.413000	0.25759	0.402000	0.26972	AAG	ZNF682	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197124		0.368	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF682	HGNC	protein_coding	OTTHUMT00000462888.1	-	0	49	0	T	NM_033196		20117176	-1	tier1	-	no_errors	ENST00000397165	ensembl	human	known	74_37	nonsense	54.65	39	47	SNP	0.060	A	A	20117176	T	A	20117176	4	1	158	1	0	0	0	0	0	1	0	0	18137	1763	61	5	365	5	ZNF682	19	20117176	Nonsense_Mutation	SNP	T	TCGA-V5-AASV-01A-11D-A387-09	463421	20117176	39011807	179	40252											
ZNF682	91120	genome.wustl.edu	37	chr19	20117944	20117944	+	Missense_Mutation	SNP	A	A	G	1	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	aatttctttttgatccttacActcacccacattttccccat	9	17	1	14	0	2	1	1	1	1	0	4	1	4	1	4	0	1	0	4	0	2	6			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:20117944A>G	ENST00000397165.2	-	4	527	c.367T>C	c.(367-369)Tgt>Cgt	p.C123R	ZNF682_ENST00000397162.1_Missense_Mutation_p.C91R|ZNF682_ENST00000595736.1_Missense_Mutation_p.C47R|ZNF682_ENST00000597972.1_Missense_Mutation_p.C129R|ZNF682_ENST00000358523.5_Missense_Mutation_p.C91R|ZNF682_ENST00000593468.1_3'UTR|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TGATCCTTACACTCACCCACA	0.348																																																	0													120	111	114					19																	20117944		1870	4132	6002	SO:0001583	missense	0			AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"Zinc fingers, C2H2-type", "-"	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.367T>C	19.37:g.20117944A>G	ENSP00000380351:p.Cys123Arg		B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C123R	ENST00000397165.2	37	c.367	CCDS42533.1	19	.	.	.	.	.	.	.	.	.	.	A	1.580	-0.531724	0.04112	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.05382	3.5;3.45;3.45	1.09	-0.252	0.12999	.	.	.	.	.	T	0.08537	0.0212	M	0.73430	2.235	0.09310	N	1	B	0.15473	0.013	B	0.17979	0.02	T	0.32107	-0.9919	9	0.59425	D	0.04	.	4.3259	0.11039	0.5195:0.0:0.4805:0.0	.	123	O95780	ZN682_HUMAN	R	123;91;91	ENSP00000380351:C123R;ENSP00000380348:C91R;ENSP00000351324:C91R	ENSP00000351324:C91R	C	-	1	0	ZNF682	19978944	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-1.386000	0.02537	-0.497000	0.06641	-0.537000	0.04273	TGT	ZNF682	-	NULL	ENSG00000197124		0.348	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF682	HGNC	protein_coding	OTTHUMT00000462888.1	-	0	15	0	A	NM_033196		20117944	-1	tier1	-	no_errors	ENST00000397165	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.000	G	G	20117944	A	G	20117944	3	3	158	1	0	0	0	0	1	0	0	0	18137	159	6	4	1133	4	ZNF682	19	20117944	Missense_Mutation	SNP	A	TCGA-V5-AASV-01A-11D-A387-09	768	20117944	39011039	180	40253											
ZNF493	284443	genome.wustl.edu	37	chr19	21606101	21606101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaattcttaccgatgtgaaGaatgtggcaaagcctttatc	13	12	9	7	1	1	3	0	1	1	2	2	4	1	3	2	1	2	1	2	1	6	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:21606101G>A	ENST00000355504.4	+	2	522	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.E214K	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	86					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						CCGATGTGAAGAATGTGGCAA	0.343																																																	0													53	59	57					19																	21606101		2201	4298	6499	SO:0001583	missense	0			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.256G>A	19.37:g.21606101G>A	ENSP00000347691:p.Glu86Lys		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E86K	ENST00000355504.4	37	c.256	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	12.37	1.918843	0.33908	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.49432	0.78;0.78	1.05	-0.845	0.10737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50343	0.1610	L	0.35542	1.07	0.50313	D	0.999862	D;D	0.71674	0.974;0.998	P;D	0.78314	0.708;0.991	T	0.51092	-0.8749	9	0.52906	T	0.07	.	7.7482	0.28881	0.0:0.2614:0.7386:0.0	.	86;214	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	K	214;86	ENSP00000376110:E214K;ENSP00000347691:E86K	ENSP00000347691:E86K	E	+	1	0	ZNF493	21397941	0.000000	0.05858	0.287000	0.24848	0.285000	0.27093	-1.084000	0.03393	0.452000	0.26830	0.460000	0.39030	GAA	ZNF493	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196268		0.343	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	-	0	54	0	G	NM_175910		21606101	1	tier1	-	no_errors	ENST00000355504	ensembl	human	known	74_37	missense	28.89	64	26	SNP	0.844	A	A	21606101	G	A	21606101	3	1	158	1	0	0	0	0	1	0	0	0	17992	943	33	3	717	3	ZNF493	19	21606101	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	1488157	21606101	37522882	181	40254											
MLL4	9757	genome.wustl.edu	37	chr19	36214349	36214349	+	Splice_Site	DEL	A	A	-																															cgtgctgctcccctccccagAtaccggaagtgtgacaaaat																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:36214349delA	ENST00000222270.7	+	7	3003	c.3003delA	c.(3001-3003)gta>gt	p.V1001fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Splice_Site_p.V1001fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1001					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)										CCCTCCCCAGATACCGGAAGT	0.537																																																	0													36	41	40					19																	36214349		1930	4120	6050	SO:0001630	splice_region_variant	0			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.3003-1A>-	19.37:g.36214349delA			O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Y1002fs	ENST00000222270.7	37	c.3003	CCDS46055.1	19																																																																																			KMT2B	-	pirsf_MeTrfase_trithorax,pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000272333		0.537	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding			0	44	0	A	NM_014727	Frame_Shift_Del	36214349	1	tier1		no_errors	ENST00000222270	ensembl	human	known	74_37	frame_shift_del	25.42	44	15	DEL	1.000	-	-	36214349	A	-	36214349	8	5	158	1	0	1	0	1	0	0	1	0	9661	347	12	0	3029	0	MLL4	19	36214349	Splice_Site	DEL	A	TCGA-V5-AASV-01A-11D-A387-09	14608248	36214349	22914634	182	40255											
ADCK4	79934	genome.wustl.edu	37	chr19	41209522	41209522	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgctctgggctatgccGgggtactgtaaagggagaag	10	9	16	6	1	1	2	0	1	1	1	1	3	1	2	1	4	3	4	1	4	6	3	rs55973839		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:41209522G>A	ENST00000324464.3	-	9	1024	c.723C>T	c.(721-723)ccC>ccT	p.P241P	ADCK4_ENST00000243583.6_Silent_p.P200P|ADCK4_ENST00000450541.1_Silent_p.P200P	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	241	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)			GGGCTATGCCGGGGTACTGTA	0.652													G|||	1	0.000199681	0	0	5008	,	,		17118	0.001		0	False		,,,				2504	0																0								G	,	0,4406		0,0,2203	58	60	59		600,723	-4.6	0.3	19	dbSNP_129	59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ADCK4	NM_001142555.2,NM_024876.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	200/504,241/545	41209522	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.723C>T	19.37:g.41209522G>A			Q8TAJ1|Q9HA52	Missense_Mutation	SNP	NULL	p.P114L	ENST00000324464.3	37	c.341	CCDS12562.1	19																																																																																			ADCK4	-	NULL	ENSG00000123815		0.652	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADCK4	HGNC	protein_coding	OTTHUMT00000462731.1	-	0	19	0	G	NM_024876		41209522	-1	tier1	-	no_errors	ENST00000599643	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.753	A	A	41209522	G	A	41209522	2	1	158	1	0	0	0	0	0	0	0	1	290	1103	39	1		1	ADCK4	19	41209522	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	4995173	41209522	17919461	183	40256											
NAPSA	9476	genome.wustl.edu	37	chr19	50865438	50865438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgactcacatccctgtaGttcgagagaggtacgaagat	11	10	11	9	2	1	3	1	1	0	2	3	6	2	3	1	1	1	3	1	1	3	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:50865438G>T	ENST00000253719.2	-	2	424	c.216C>A	c.(214-216)aaC>aaA	p.N72K	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	72					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CATCCCTGTAGTTCGAGAGAG	0.562																																																	0													73	64	67					19																	50865438		2203	4300	6503	SO:0001583	missense	0			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.216C>A	19.37:g.50865438G>T	ENSP00000253719:p.Asn72Lys		Q8WWD9	Missense_Mutation	SNP	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.N72K	ENST00000253719.2	37	c.216	CCDS12794.1	19	.	.	.	.	.	.	.	.	.	.	G	5.823	0.336100	0.11013	.	.	ENSG00000131400	ENST00000253719	T	0.32515	1.45	4.11	-2.64	0.06114	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.284508	0.42682	N	0.000678	T	0.16685	0.0401	L	0.35487	1.065	0.38325	D	0.943639	B	0.02656	0.0	B	0.04013	0.001	T	0.02661	-1.1127	10	0.52906	T	0.07	.	4.2848	0.10850	0.326:0.3191:0.3549:0.0	.	72	O96009	NAPSA_HUMAN	K	72	ENSP00000253719:N72K	ENSP00000253719:N72K	N	-	3	2	NAPSA	55557250	1.000000	0.71417	0.007000	0.13788	0.007000	0.05969	0.748000	0.26305	-0.308000	0.08792	-0.339000	0.08088	AAC	NAPSA	-	superfamily_Peptidase_aspartic_dom	ENSG00000131400		0.562	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPSA	HGNC	protein_coding	OTTHUMT00000464714.1		0	48	0	G	NM_004851		50865438	-1			no_errors	ENST00000253719	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.930	T	T	50865438	G	T	50865438	3	4	158	1	0	0	0	0	1	0	0	0	10204	1020	36	3	1078	3	NAPSA	19	50865438	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	9655916	50865438	8263545	184	40257											
ZSCAN18	65982	genome.wustl.edu	37	chr19	58596563	58596563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggcagagtcggactccGcgtcctgggggtcctgcggg	3	7	19	12	5	0	1	0	0	0	1	4	2	3	2	3	6	1	1	3	6	0	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr19:58596563G>A	ENST00000240727.6	-	7	1421	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A341V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A205V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A397V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	341					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTCGGACTCCGCGTCCTGGGG	0.721																																																	0													14	18	16					19																	58596563		2198	4283	6481	SO:0001583	missense	0			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1022C>T	19.37:g.58596563G>A	ENSP00000240727:p.Ala341Val		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A397V	ENST00000240727.6	37	c.1190	CCDS12971.1	19	.	.	.	.	.	.	.	.	.	.	G	9.081	0.999421	0.19121	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02472	4.55;4.28	3.28	-1.49	0.08718	.	1.559840	0.04089	N	0.310994	T	0.01421	0.0046	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.43701	0.718;0.718;0.815;0.718	B;B;B;B	0.26202	0.052;0.052;0.067;0.03	T	0.44513	-0.9323	10	0.30078	T	0.28	.	3.4574	0.07521	0.0:0.3882:0.2112:0.4006	.	397;205;340;341	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	V	397;341;205	ENSP00000240727:A341V;ENSP00000392653:A205V	ENSP00000240727:A341V	A	-	2	0	ZSCAN18	63288375	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	1.083000	0.30815	-0.198000	0.10333	-1.295000	0.01343	GCG	ZSCAN18	-	NULL	ENSG00000121413		0.721	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1	-	0	16	0	G	NM_023926		58596563	-1	tier1	-	no_errors	ENST00000600404	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.000	A	A	58596563	G	A	58596563	3	1	158	1	0	0	0	0	1	0	0	0	18278	1087	38	1	514	1	ZSCAN18	19	58596563	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	7731125	58596563	532420	185	40258											
ATRN	8455	genome.wustl.edu	37	chr20	3564710	3564710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccagtgtatggaatggtAtacgatgagcacctgccccc	9	9	12	11	1	0	1	0	1	0	0	0	3	0	2	4	3	3	3	4	3	4	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:3564710A>G	ENST00000262919.5	+	17	2998	c.2930A>G	c.(2929-2931)tAt>tGt	p.Y977C	ATRN_ENST00000446916.2_Missense_Mutation_p.Y977C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	977	PSI 3.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATGGAATGGTATACGATGAGC	0.542																																																	0													290	239	256					20																	3564710		2203	4300	6503	SO:0001583	missense	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2930A>G	20.37:g.3564710A>G	ENSP00000262919:p.Tyr977Cys		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.Y977C	ENST00000262919.5	37	c.2930	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	A	16.15	3.043081	0.55003	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.16897	3.39;2.31	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	L	0.43152	1.355	0.80722	D	1	B;D	0.71674	0.04;0.998	B;D	0.63113	0.015;0.911	T	0.01283	-1.1396	10	0.44086	T	0.13	-19.1756	15.5155	0.75822	1.0:0.0:0.0:0.0	.	977;977	O75882;O75882-2	ATRN_HUMAN;.	C	977;977;903	ENSP00000262919:Y977C;ENSP00000416587:Y977C	ENSP00000262919:Y977C	Y	+	2	0	ATRN	3512710	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.301000	0.96167	2.137000	0.66172	0.477000	0.44152	TAT	ATRN	-	pfam_Plexin_repeat,smart_Plexin-like_fold	ENSG00000088812		0.542	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	-	0	54	0	A	NM_139321		3564710	1	tier1	-	no_errors	ENST00000262919	ensembl	human	known	74_37	missense	31.34	46	21	SNP	1.000	G	G	3564710	A	G	3564710	3	3	158	1	0	0	0	0	1	0	0	0	1207	449	16	4	2996	4	ATRN	20	3564710	Missense_Mutation	SNP	A	TCGA-V5-AASV-01A-11D-A387-09		3564710	59460810	186	40259											
SNX5	27131	genome.wustl.edu	37	chr20	17928184	17928184	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctggcagcactcctgctggtGtgcctcagccaacttgacgt	6	10	11	14	1	1	1	1	1	0	0	2	1	2	1	3	2	5	3	3	2	1	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:17928184G>T	ENST00000377768.3	-	12	1336	c.1024C>A	c.(1024-1026)Cac>Aac	p.H342N	SNX5_ENST00000377759.4_Missense_Mutation_p.H342N|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	342	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCCTGCTGGTGTGCCTCAGCC	0.428																																																	0													116	105	109					20																	17928184		2203	4300	6503	SO:0001583	missense	0			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"Sorting nexins"	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.1024C>A	20.37:g.17928184G>T	ENSP00000366998:p.His342Asn		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.H342N	ENST00000377768.3	37	c.1024	CCDS13130.1	20	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536352	0.27475	.	.	ENSG00000089006	ENST00000377768;ENST00000377759	T;T	0.58060	0.36;0.36	5.31	3.29	0.37713	Vps5 C-terminal (1);	0.087553	0.85682	N	0.000000	T	0.43523	0.1251	L	0.38838	1.175	0.54753	D	0.999984	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.008	T	0.26744	-1.0094	10	0.40728	T	0.16	-16.3004	14.4466	0.67356	0.0:0.0:0.7311:0.2688	.	363;342	B7Z476;Q9Y5X3	.;SNX5_HUMAN	N	342	ENSP00000366998:H342N;ENSP00000366988:H342N	ENSP00000366988:H342N	H	-	1	0	SNX5	17876184	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	3.861000	0.56002	0.657000	0.30906	0.650000	0.86243	CAC	SNX5	-	pfam_Vps5_C,pirsf_Snx5_Snx6	ENSG00000089006		0.428	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX5	HGNC	protein_coding	OTTHUMT00000078137.4		0	78	0	G			17928184	-1			no_errors	ENST00000377759	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	17928184	G	T	17928184	3	4	158	1	0	0	0	0	1	0	0	0	14950	1377	48	3	202	3	SNX5	20	17928184	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	14363474	17928184	45097336	187	40260											
ASXL1	171023	genome.wustl.edu	37	chr20	31022592	31022592	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtacgtcagatctacagCgaacacaactactgccgcct	12	8	8	13	3	2	1	1	0	1	1	2	2	2	1	2	0	7	1	2	0	5	3	rs373221034		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:31022592C>T	ENST00000375687.4	+	13	2501	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.R688*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	693					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R693*(7)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGATCTACAGCGAACACAACT	0.592			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	7	Substitution - Nonsense(7)	haematopoietic_and_lymphoid_tissue(7)						C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	51	45	47		2077	5.2	1	20		47	0,8600		0,0,4300	no	stop-gained	ASXL1	NM_015338.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		693/1542	31022592	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2077C>T	20.37:g.31022592C>T	ENSP00000364839:p.Arg693*		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	NULL	p.R693*	ENST00000375687.4	37	c.2077	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	42	9.378362	0.99153	2.27E-4	0.0	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	5.22	5.22	0.72569	.	0.298911	0.31834	N	0.006992	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3403	19.3627	0.94446	0.0:1.0:0.0:0.0	.	.	.	.	X	693;693;693;614;688	.	ENSP00000305119:R688X	R	+	1	2	ASXL1	30486253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.216000	0.51176	2.894000	0.99253	0.655000	0.94253	CGA	ASXL1	-	NULL	ENSG00000171456		0.592	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0	62	0	C	NM_015338		31022592	1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	nonsense	40.43	56	38	SNP	1.000	T	T	31022592	C	T	31022592	4	4	158	1	0	0	0	0	0	1	0	0	1067	760	27	1	2133	1	ASXL1	20	31022592	Nonsense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	13094408	31022592	32002928	188	40261											
PLTP	5360	genome.wustl.edu	37	chr20	44528111	44528111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccactcaccgcatggttcGtcaccacctcatgcacaaag	10	7	6	18	2	3	0	3	0	0	0	4	0	3	0	5	1	1	3	5	1	1	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:44528111G>A	ENST00000477313.1	-	14	1943	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	PLTP_ENST00000420868.2_Missense_Mutation_p.T355M|PLTP_ENST00000372420.1_Missense_Mutation_p.T362M|PLTP_ENST00000542937.1_Missense_Mutation_p.T470M|PLTP_ENST00000354050.4_Missense_Mutation_p.T398M|PLTP_ENST00000372431.3_Missense_Mutation_p.T450M			P55058	PLTP_HUMAN	phospholipid transfer protein	450					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)				CGCATGGTTCGTCACCACCTC	0.647																																																	0													103	81	88					20																	44528111		2203	4300	6503	SO:0001583	missense	0			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.1349C>T	20.37:g.44528111G>A	ENSP00000417138:p.Thr450Met		A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.T470M	ENST00000477313.1	37	c.1409	CCDS13386.1	20	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851113	0.51270	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92	5.12	2.03	0.26663	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.382534	0.32357	N	0.006213	T	0.21921	0.0528	L	0.51422	1.61	0.34029	D	0.653641	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	0.73380	0.98;0.973;0.973;0.959;0.973;0.973	T	0.15093	-1.0449	10	0.52906	T	0.07	-11.192	8.4707	0.32984	0.0725:0.0:0.6522:0.2753	.	355;362;450;398;450;470	E7EV16;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;PLTP_HUMAN;.	M	362;450;398;450;470;355	ENSP00000361497:T362M;ENSP00000361508:T450M;ENSP00000335290:T398M;ENSP00000417138:T450M;ENSP00000440296:T470M;ENSP00000411671:T355M	ENSP00000335290:T398M	T	-	2	0	PLTP	43961518	0.558000	0.26554	0.476000	0.27291	0.835000	0.47333	0.738000	0.26158	0.302000	0.22762	0.544000	0.68410	ACG	PLTP	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000100979		0.647	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	-	0	48	0	G	NM_006227		44528111	-1	tier1	-	no_errors	ENST00000542937	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.721	A	A	44528111	G	A	44528111	3	1	158	1	0	0	0	0	1	0	0	0	12153	1145	40	1	140	1	PLTP	20	44528111	Missense_Mutation	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	13505519	44528111	18497409	189	40262											
ZNFX1	57169	genome.wustl.edu	37	chr20	47865500	47865500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttgttcatggccgcacCgaggaatggttttgggcacc	7	11	12	11	2	1	0	1	0	0	0	1	2	1	1	4	4	0	4	4	4	1	4	rs202073916		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:47865500C>A	ENST00000396105.1	-	14	4307	c.4061G>T	c.(4060-4062)cGg>cTg	p.R1354L	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1354L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1354							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)			ATGGCCGCACCGAGGAATGGT	0.562																																																	0													91	89	90					20																	47865500		2203	4300	6503	SO:0001583	missense	0			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.4061G>T	20.37:g.47865500C>A	ENSP00000379412:p.Arg1354Leu		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1	p.R1354L	ENST00000396105.1	37	c.4061	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	C	5.337	0.247427	0.10130	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.86694	-2.16;-2.16	6.16	-1.96	0.07525	.	0.918147	0.09448	N	0.800828	T	0.79464	0.4450	L	0.45285	1.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.60495	-0.7252	10	0.26408	T	0.33	-4.3797	8.2652	0.31810	0.1163:0.2577:0.0:0.6261	.	1354	Q9P2E3	ZNFX1_HUMAN	L	1354	ENSP00000360817:R1354L;ENSP00000379412:R1354L	ENSP00000360817:R1354L	R	-	2	0	ZNFX1	47298907	0.000000	0.05858	0.069000	0.20011	0.885000	0.51271	-0.362000	0.07602	-0.618000	0.05656	-1.846000	0.00573	CGG	ZNFX1	-	NULL	ENSG00000124201		0.562	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	-	0	68	0	C	NM_021035		47865500	-1	tier1	-	no_errors	ENST00000371752	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.001	A	A	47865500	C	A	47865500	3	1	158	1	0	0	0	0	1	0	0	0	18253	652	23	2	1699	2	ZNFX1	20	47865500	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	3337389	47865500	15160020	190	40263											
RGS19	10287	genome.wustl.edu	37	chr20	62705859	62705859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgcagcttgctctccCgggaggcctgccacgcgcgc	3	6	16	16	4	1	0	0	0	1	0	2	1	1	1	3	4	4	4	3	4	0	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr20:62705859C>T	ENST00000395042.1	-	4	454	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	RGS19_ENST00000493165.1_5'UTR|RGS19_ENST00000332298.5_Missense_Mutation_p.R63Q	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	63					autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTTGCTCTCCCGGGAGGCCTG	0.701																																																	0																																										SO:0001583	missense	0			X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"Regulators of G-protein signaling"	13735	protein-coding gene	gene with protein product		605071	"regulator of G-protein signalling 19"			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.188G>A	20.37:g.62705859C>T	ENSP00000378483:p.Arg63Gln		A8K216|E1P5G9|Q53XN0|Q8TD60	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.R63Q	ENST00000395042.1	37	c.188	CCDS13555.1	20	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806609	0.50421	.	.	ENSG00000171700	ENST00000395042;ENST00000332298	T;T	0.75477	-0.94;-0.94	5.05	3.14	0.36123	.	0.318772	0.17276	N	0.180197	T	0.57007	0.2024	N	0.16602	0.42	0.25631	N	0.986308	B	0.19073	0.033	B	0.14578	0.011	T	0.46484	-0.9188	10	0.35671	T	0.21	.	10.3941	0.44190	0.0:0.8423:0.0:0.1577	.	63	P49795	RGS19_HUMAN	Q	63	ENSP00000378483:R63Q;ENSP00000333194:R63Q	ENSP00000333194:R63Q	R	-	2	0	RGS19	62176303	0.000000	0.05858	0.996000	0.52242	0.928000	0.56348	-0.000000	0.12993	0.729000	0.32403	-0.253000	0.11424	CGG	RGS19	-	NULL	ENSG00000171700		0.701	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS19	HGNC	protein_coding	OTTHUMT00000080273.1	-	0	35	0	C	NM_005873		62705859	-1	tier1	-	no_errors	ENST00000332298	ensembl	human	known	74_37	missense	36.59	25	15	SNP	0.479	T	T	62705859	C	T	62705859	3	4	158	1	0	0	0	0	1	0	0	0	13346	652	23	1	477	1	RGS19	20	62705859	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	14840359	62705859	319661	191	40264											
TIAM1	7074	genome.wustl.edu	37	chr21	32502599	32502599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaaatctgaaggggtccCagtcctcataaatggaaagc	13	8	11	9	1	2	1	1	1	1	0	5	3	4	2	2	3	1	0	2	3	5	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr21:32502599C>A	ENST00000286827.3	-	26	4448	c.3977G>T	c.(3976-3978)tGg>tTg	p.W1326L	TIAM1_ENST00000541036.1_Missense_Mutation_p.W1266L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1326	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						GAAGGGGTCCCAGTCCTCATA	0.527																																																	0													154	152	152					21																	32502599		2203	4300	6503	SO:0001583	missense	0				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.3977G>T	21.37:g.32502599C>A	ENSP00000286827:p.Trp1326Leu		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.W1326L	ENST00000286827.3	37	c.3977	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440887	0.43326	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.36520	1.25;1.28	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.121890	0.56097	D	0.000024	T	0.21267	0.0512	N	0.08118	0	0.44352	D	0.997245	B;B;B	0.23249	0.082;0.049;0.049	B;B;B	0.20577	0.03;0.013;0.013	T	0.11179	-1.0598	10	0.16896	T	0.51	.	16.773	0.85543	0.0:0.8714:0.1286:0.0	.	1266;1266;1326	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	L	1326;1266	ENSP00000286827:W1326L;ENSP00000441570:W1266L	ENSP00000286827:W1326L	W	-	2	0	TIAM1	31424470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.668000	0.54554	2.854000	0.98071	0.655000	0.94253	TGG	TIAM1	-	smart_Pleckstrin_homology	ENSG00000156299		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0	37	0	C	NM_003253		32502599	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	A	A	32502599	C	A	32502599	3	1	158	1	0	0	0	0	1	0	0	0	15937	595	21	3	814	3	TIAM1	21	32502599	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09		32502599	15627296	192	40265											
BID	637	genome.wustl.edu	37	chr22	18220885	18220887	+	In_Frame_Del	DEL	CTT	CTT	-																															gacggcgtgtgactggccacCttcttggccagcagcagggc																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:18220885_18220887delCTT	ENST00000399774.3	-	5	641_643	c.472_474delAAG	c.(472-474)aagdel	p.K158del	BID_ENST00000473439.1_5'UTR|BID_ENST00000342111.5_3'UTR|BID_ENST00000317361.7_In_Frame_Del_p.K204del|BID_ENST00000399765.1_In_Frame_Del_p.K62del|BID_ENST00000551952.1_In_Frame_Del_p.K158del|BID_ENST00000399767.1_In_Frame_Del_p.K62del	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	158					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)	p.K203_A206delKKVA(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GACTGGCCACCTTCTTGGCCAGC	0.567																																																	1	Deletion - In frame(1)	breast(1)																																								SO:0001651	inframe_deletion	0			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.472_474delAAG	22.37:g.18220888_18220890delCTT	ENSP00000382674:p.Lys158del		Q549M7|Q71T04|Q7Z4M9|Q8IY86	In_Frame_Del	DEL	pfam_BID	p.K204in_frame_del	ENST00000399774.3	37	c.612_610	CCDS13748.1	22																																																																																			BID	-	pfam_BID	ENSG00000015475		0.567	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BID	HGNC	protein_coding	OTTHUMT00000316178.1		0	43	0	CTT	NM_197966		18220887	-1	tier1		no_errors	ENST00000317361	ensembl	human	known	74_37	in_frame_del	28.07	41	16	DEL	1.000:1.000:1.000	-	-	18220887	CTT	-	18220885	7	5	158	1	0	1	0	1	0	0	0	0	1432	680	24	0	121	0	BID	22	18220885	In_Frame_Del	DEL	CTT	TCGA-V5-AASV-01A-11D-A387-09		18220885	33083681	193	40266											
MYO18B	84700	genome.wustl.edu	37	chr22	26423370	26423370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagcatccactttgaaaCggaagaggctaaccgttcct	12	10	8	11	2	1	2	1	1	0	1	3	3	3	3	3	2	3	3	3	2	4	4			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:26423370C>T	ENST00000407587.2	+	43	7602	c.7433C>T	c.(7432-7434)aCg>aTg	p.T2478M	MYO18B_ENST00000536101.1_Missense_Mutation_p.T2477M|MYO18B_ENST00000335473.7_Missense_Mutation_p.T2477M			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2477						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						CACTTTGAAACGGAAGAGGCT	0.557																																																	0													87	89	89					22																	26423370		2004	4154	6158	SO:0001583	missense	0			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.7433C>T	22.37:g.26423370C>T	ENSP00000386096:p.Thr2478Met		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T2477M	ENST00000407587.2	37	c.7430		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.542|3.542	-0.093406|-0.093406	0.07053|0.07053	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.86865	.|-2.16;-2.16;-2.18	5.17|5.17	-2.12|-2.12	0.07165|0.07165	.|.	.|0.498789	.|0.17030	.|N	.|0.189743	T|T	0.71728|0.71728	0.3374|0.3374	L|L	0.31294|0.31294	0.92|0.92	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.23540	.|0.032;0.052;0.052;0.087;0.087	.|B;B;B;B;B	.|0.13407	.|0.006;0.002;0.002;0.009;0.006	T|T	0.56842|0.56842	-0.7912|-0.7912	5|10	.|0.36615	.|T	.|0.2	.|.	1.6467|1.6467	0.02763|0.02763	0.1252:0.2638:0.1743:0.4366|0.1252:0.2638:0.1743:0.4366	.|.	.|1990;2479;2477;2478;2477	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	W|M	427|2477;2477;2478	.|ENSP00000441229:T2477M;ENSP00000334563:T2477M;ENSP00000386096:T2478M	.|ENSP00000334563:T2477M	R|T	+|+	1|2	2|0	MYO18B|MYO18B	24753370|24753370	0.004000|0.004000	0.15560|0.15560	0.051000|0.051000	0.19133|0.19133	0.001000|0.001000	0.01503|0.01503	-0.165000|-0.165000	0.09968|0.09968	-0.160000|-0.160000	0.11002|0.11002	-0.258000|-0.258000	0.10820|0.10820	CGG|ACG	MYO18B	-	NULL	ENSG00000133454		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1		0	41	0	C	NM_032608		26423370	1			no_errors	ENST00000335473	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.006	T	T	26423370	C	T	26423370	3	4	158	1	0	0	0	0	1	0	0	0	10104	536	19	1	7596	1	MYO18B	22	26423370	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	8202485	26423370	24881196	194	40267											
TFIP11	24144	genome.wustl.edu	37	chr22	26888021	26888021	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgcagtgaggtgggcacCcacgtcttctcgccctggac	5	9	12	15	2	3	1	0	1	3	0	4	2	3	2	2	3	1	2	2	3	0	1			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:26888021C>T	ENST00000407690.1	-	15	2755	c.2472G>A	c.(2470-2472)tgG>tgA	p.W824*	TFIP11_ENST00000405938.1_Nonsense_Mutation_p.W824*|SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000407148.1_Nonsense_Mutation_p.W824*|TFIP11_ENST00000407431.1_Nonsense_Mutation_p.W824*	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	824					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGGTGGGCACCCACGTCTTCT	0.552																																																	0													86	56	66					22																	26888021		2203	4300	6503	SO:0001587	stop_gained	0			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.2472G>A	22.37:g.26888021C>T	ENSP00000384421:p.Trp824*		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Nonsense_Mutation	SNP	pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.W824*	ENST00000407690.1	37	c.2472	CCDS13838.1	22	.	.	.	.	.	.	.	.	.	.	C	43	10.224150	0.99362	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8712	18.6556	0.91452	0.0:1.0:0.0:0.0	.	.	.	.	X	824;824;824;509;824	.	ENSP00000384297:W824X	W	-	3	0	TFIP11	25218021	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.370000	0.79589	2.884000	0.98904	0.655000	0.94253	TGG	TFIP11	-	NULL	ENSG00000100109		0.552	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	HGNC	protein_coding	OTTHUMT00000320750.1		0	31	0	C	NM_001008697		26888021	-1			no_errors	ENST00000405938	ensembl	human	known	74_37	nonsense	8.70	42	4	SNP	1.000	T	T	26888021	C	T	26888021	4	4	158	1	0	0	0	0	0	1	0	0	15854	624	22	3	45	3	TFIP11	22	26888021	Nonsense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	464651	26888021	24416545	195	40268											
ISX	91464	genome.wustl.edu	37	chr22	35480444	35480444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacctgggggctccacaGcagctgagtgaagccagtgt	9	6	15	11	0	0	2	0	2	0	0	1	2	1	2	3	3	4	4	3	3	2	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chr22:35480444G>A	ENST00000308700.6	+	3	1402	c.450G>A	c.(448-450)caG>caA	p.Q150Q	ISX_ENST00000404699.2_Silent_p.Q150Q	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	150					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Q150H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GGGCTCCACAGCAGCTGAGTG	0.557																																																	1	Substitution - Missense(1)	endometrium(1)											59	52	54					22																	35480444		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"Homeoboxes / PRD class"	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.450G>A	22.37:g.35480444G>A			Q68DJ5	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.Q150	ENST00000308700.6	37	c.450	CCDS33640.1	22																																																																																			ISX	-	NULL	ENSG00000175329		0.557	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISX	HGNC	protein_coding	OTTHUMT00000320662.1		0	59	0	G	NM_001008494		35480444	1			no_errors	ENST00000308700	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.019	A	A	35480444	G	A	35480444	2	1	158	1	0	0	0	0	0	0	0	1	7892	962	34	3		3	ISX	22	35480444	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	8592423	35480444	15824122	196	40269											
NR0B1	190	genome.wustl.edu	37	chrX	30326923	30326923	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccgcccgcctggtagCgcctctttaccccctggcct	2	9	11	19	3	1	0	0	0	1	0	1	0	1	0	7	3	2	1	7	3	2	3			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:30326923C>T	ENST00000378970.4	-	1	792	c.558G>A	c.(556-558)gcG>gcA	p.A186A	NR0B1_ENST00000453287.1_Silent_p.A186A|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	186	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|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)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGCCTGGTAGCGCCTCTTTAC	0.697											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													11	9	9					X																	30326923		2184	4256	6440	SO:0001819	synonymous_variant	0			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.558G>A	X.37:g.30326923C>T		816	Q96F69	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.A186	ENST00000378970.4	37	c.558	CCDS14223.1	X																																																																																			NR0B1	-	NULL	ENSG00000169297		0.697	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	HGNC	protein_coding	OTTHUMT00000056161.1	-	0	12	0	C	NM_000475		30326923	-1	tier1	-	no_errors	ENST00000378970	ensembl	human	known	74_37	silent	80.00	2	8	SNP	0.034	T	T	30326923	C	T	30326923	2	4	158	1	0	0	0	0	0	0	0	1	10652	755	27	1		1	NR0B1	23	30326923	Silent	SNP	C	TCGA-V5-AASV-01A-11D-A387-09		30326923	124943637	197	40270											
FAM47C	442444	genome.wustl.edu	37	chrX	37027774	37027774	+	Frame_Shift_Del	DEL	C	C	-																															cccatctctgcctggagcctCccaagactcgcggatctcat																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:37027774delC	ENST00000358047.3	+	1	1343	c.1291delC	c.(1291-1293)cccfs	p.P431fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	431										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						CCTGGAGCCTCCCAAGACTCG	0.607																																																	0													61	60	60					X																	37027774		2202	4300	6502	SO:0001589	frameshift_variant	0			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.1291delC	X.37:g.37027774delC	ENSP00000367913:p.Pro431fs		Q6ZU46	Frame_Shift_Del	DEL	NULL	p.K432fs	ENST00000358047.3	37	c.1291	CCDS35227.1	X																																																																																			FAM47C	-	NULL	ENSG00000198173		0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1		0	116	0	C	NM_001013736		37027774	1	tier1		no_errors	ENST00000358047	ensembl	human	known	74_37	frame_shift_del	67.23	39	80	DEL	0.435	-	-	37027774	C	-	37027774	7	5	158	1	0	1	0	1	0	0	0	0	5593	855	30	0	1293	0	FAM47C	23	37027774	Frame_Shift_Del	DEL	C	TCGA-V5-AASV-01A-11D-A387-09	6700851	37027774	118242786	198	40271											
HSD17B10	3028	genome.wustl.edu	37	chrX	53459303	53459303	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgacagctacatccacacgGccaaactttccttttgctag	10	12	6	13	1	0	1	0	1	0	0	2	1	2	1	3	1	4	2	3	1	3	6			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:53459303G>A	ENST00000168216.6	-	3	276	c.249C>T	c.(247-249)ggC>ggT	p.G83G	HSD17B10_ENST00000375304.5_Silent_p.G83G|HSD17B10_ENST00000375298.4_Silent_p.G83G|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'UTR	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	83					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						CATCCACACGGCCAAACTTTC	0.512																																																	0													127	97	107					X																	53459303		2203	4300	6503	SO:0001819	synonymous_variant	0			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.249C>T	X.37:g.53459303G>A			Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect,prints_DHB_DH	p.G83	ENST00000168216.6	37	c.249	CCDS14354.1	X																																																																																			HSD17B10	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000072506		0.512	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B10	HGNC	protein_coding	OTTHUMT00000056750.1		0	39	0	G	NM_004493		53459303	-1			no_errors	ENST00000168216	ensembl	human	known	74_37	silent	5.00	57	3	SNP	1.000	A	A	53459303	G	A	53459303	2	1	158	1	0	0	0	0	0	0	0	1	7406	1190	42	3		3	HSD17B10	23	53459303	Silent	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	16431529	53459303	101811257	199	40272											
MSN	4478	genome.wustl.edu	37	chrX	64956728	64956730	+	In_Frame_Del	DEL	AGG	AGG	-																															agagaagattgaacgggagaAggaggagctgatggagaggc																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:64956728_64956730delAGG	ENST00000360270.5	+	9	1203_1205	c.1031_1033delAGG	c.(1030-1035)aaggag>aag	p.E346del		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	346					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						gaacgggagaaggaggagctgat	0.473			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0										8,3707		0,4,4,1587,529						4.4	1			96	37,6438		0,15,22,2341,1741	no	coding	MSN	NM_002444.2		0,19,26,3928,2270	A1A1,A1R,A1,RR,R		0.5714,0.2153,0.4416				45,10145				SO:0001651	inframe_deletion	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1031_1033delAGG	X.37:g.64956731_64956733delAGG	ENSP00000353408:p.Glu346del			In_Frame_Del	DEL	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.E346in_frame_del	ENST00000360270.5	37	c.1031_1033	CCDS14382.1	X																																																																																			MSN	-	pirsf_ERM,pfam_ERM_C_dom	ENSG00000147065		0.473	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1		0	27	0	AGG	NM_002444		64956730	1			no_errors	ENST00000360270	ensembl	human	known	74_37	in_frame_del	22.22	28	8	DEL	1.000:0.998:1.000	0	-	64956730	AGG	-	64956728	7	5	158	1	0	1	0	1	0	0	0	0	9923	72	3	0	1065	0	MSN	23	64956728	In_Frame_Del	DEL	AGG	TCGA-V5-AASV-01A-11D-A387-09	11497425	64956728	90313832	200	40273			1	45		2	2	16	N	AGG_A	9.835845e-05
MSN	4478	genome.wustl.edu	37	chrX	64956743	64956743	+	Missense_Mutation	SNP	A	A	G	1	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	ggagaaggaggagctgatggAgaggctgaagcagatcgagg	13	4	20	4	1	0	5	0	2	0	3	1	10	0	7	0	6	2	3	0	6	2	0	rs200135811		TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:64956743A>G	ENST00000360270.5	+	9	1218	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	349					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.E349G(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						gagctgatggagaggctgaag	0.493			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	1	Substitution - Missense(1)	skin(1)											105	84	91					X																	64956743		2203	4299	6502	SO:0001583	missense	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1046A>G	X.37:g.64956743A>G	ENSP00000353408:p.Glu349Gly			Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.E349G	ENST00000360270.5	37	c.1046	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810728	0.50421	.	.	ENSG00000147065	ENST00000360270	D	0.83837	-1.77	4.56	3.39	0.38822	Ezrin/radixin/moesin, C-terminal (1);	0.283599	0.40385	N	0.001109	D	0.83431	0.5253	M	0.85945	2.785	0.58432	D	0.999995	B	0.27229	0.172	B	0.36186	0.219	T	0.77338	-0.2625	10	0.34782	T	0.22	.	5.9609	0.19299	0.8811:0.0:0.1189:0.0	.	349	P26038	MOES_HUMAN	G	349	ENSP00000353408:E349G	ENSP00000353408:E349G	E	+	2	0	MSN	64873468	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.780000	0.75063	0.705000	0.31890	0.481000	0.45027	GAG	MSN	-	pirsf_ERM,pfam_ERM_C_dom	ENSG00000147065		0.493	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1		0	24	0	A	NM_002444		64956743	1			no_errors	ENST00000360270	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	G	G	64956743	A	G	64956743	3	3	158	1	0	0	0	0	1	0	0	0	9923	304	11	4	1080	4	MSN	23	64956743	Missense_Mutation	SNP	A	TCGA-V5-AASV-01A-11D-A387-09	15	64956743	90313817	201	40274			1	45		2	2	16	N	AGG_A	9.835845e-05
TEX11	56159	genome.wustl.edu	37	chrX	69898668	69898668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tcaaacctcaaaactactggCagcttgtctccacagaatgt	13	10	6	12	0	3	1	2	0	1	1	4	1	3	1	2	1	4	2	2	1	5	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:69898668C>T	ENST00000395889.2	-	16	1428	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	TEX11_ENST00000344304.3_Missense_Mutation_p.A425T|TEX11_ENST00000374320.2_Missense_Mutation_p.A100T|TEX11_ENST00000374333.2_Missense_Mutation_p.A410T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	425					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)					AAACTACTGGCAGCTTGTCTC	0.333																																																	0													113	99	104					X																	69898668		2203	4300	6503	SO:0001583	missense	0			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.1273G>A	X.37:g.69898668C>T	ENSP00000379226:p.Ala425Thr		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.A425T	ENST00000395889.2	37	c.1273	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	C	1.365	-0.587739	0.03799	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.58	-0.49	0.12049	Tetratricopeptide-like helical (1);	0.757705	0.12270	N	0.483919	T	0.57740	0.2074	L	0.35854	1.095	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.004	T	0.35748	-0.9776	9	.	.	.	4.1432	4.4791	0.11759	0.2654:0.4805:0.0:0.2541	.	410;425	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	410;425;100;425	ENSP00000363453:A410T;ENSP00000379226:A425T;ENSP00000363440:A100T;ENSP00000340995:A425T	.	A	-	1	0	TEX11	69815393	0.977000	0.34250	0.015000	0.15790	0.437000	0.31866	-0.121000	0.10643	-0.871000	0.04042	-1.231000	0.01572	GCC	TEX11	-	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	ENSG00000120498		0.333	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	-	0	92	0	C			69898668	-1	tier1	-	no_errors	ENST00000344304	ensembl	human	known	74_37	missense	67.52	38	79	SNP	0.080	T	T	69898668	C	T	69898668	3	4	158	1	0	0	0	0	1	0	0	0	15821	710	25	3	1613	3	TEX11	23	69898668	Missense_Mutation	SNP	C	TCGA-V5-AASV-01A-11D-A387-09	4941925	69898668	85371892	202	40275											
RGAG4	340526	genome.wustl.edu	37	chrX	71350845	71350845	+	Frame_Shift_Del	DEL	G	G	-																															gccacccgctcggcgcccccGgggaaatgaacctcatggtc																										TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:71350845delG	ENST00000545866.1	-	1	913	c.546delC	c.(544-546)cccfs	p.P182fs	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Frame_Shift_Del_p.P182fs|NHSL2_ENST00000373677.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	182										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CGGCGCCCCCGGGGAAATGAA	0.582																																																	0													26	28	27					X																	71350845		1873	4089	5962	SO:0001589	frameshift_variant	0			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.546delC	X.37:g.71350845delG	ENSP00000441366:p.Pro182fs		A7E2W7|Q8NCM4|Q9NPX1	Frame_Shift_Del	DEL	pfam_Retrotrans_gag_dom	p.G184fs	ENST00000545866.1	37	c.546	CCDS55446.1	X																																																																																			RGAG4	-	NULL	ENSG00000242732		0.582	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1		0	35	0	G	NM_001024455		71350845	-1	tier1		no_errors	ENST00000479991	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.307	-	-	71350845	G	-	71350845	7	5	158	1	0	1	0	1	0	0	0	0	13320	1103	39	0	1167	0	RGAG4	23	71350845	Frame_Shift_Del	DEL	G	TCGA-V5-AASV-01A-11D-A387-09	1452177	71350845	83919715	203	40276											
ALG13	79868	genome.wustl.edu	37	chrX	110988002	110988002	+	Silent	SNP	T	T	A	0	1	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	ccaccaccaccaccacctccTcctcctcctcctcctcctcc	5	8	0	28	0	0	0	0	0	0	0	8	0	8	0	14	0	0	0	14	0	0	0			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:110988002T>A	ENST00000394780.3	+	24	2814	c.2802T>A	c.(2800-2802)ccT>ccA	p.P934P	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	934	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.P934P(4)		endometrium(2)|lung(10)|skin(1)	13						caccacctcctcctcctcctc	0.567																																																	4	Substitution - coding silent(4)	endometrium(4)											10	9	9					X																	110988002		1505	3424	4929	SO:0001819	synonymous_variant	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2802T>A	X.37:g.110988002T>A			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor	p.P934	ENST00000394780.3	37	c.2802	CCDS55477.1	X																																																																																			ALG13	-	NULL	ENSG00000101901		0.567	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1		0	14	0	T	NM_018466		110988002	1			no_errors	ENST00000394780	ensembl	human	putative	74_37	silent	18.18	18	4	SNP	0.000	A	A	110988002	T	A	110988002	2	1	158	1	0	0	0	0	0	0	0	1	515	1538	54	5		5	ALG13	23	110988002	Silent	SNP	T	TCGA-V5-AASV-01A-11D-A387-09	39637157	110988002	44282558	204	40277											
MAGEC3	139081	genome.wustl.edu	37	chrX	140984538	140984538	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcacaggattccatagatGaggaggaggaggatgcctcc	12	7	14	8	0	0	2	0	1	0	1	2	7	2	7	3	5	2	1	3	5	1	2			TCGA-V5-AASV-01A-11D-A387-09	TCGA-V5-AASV-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0afac72-fa23-47e8-a05d-db61735de14b	24963b8e-e095-4d3b-8c6c-bce94ccc8957	g.chrX:140984538G>A	ENST00000298296.1	+	7	1123				MAGEC3_ENST00000544766.1_Missense_Mutation_p.E34K|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E34K|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E34K|MAGEC3_ENST00000483584.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCATAGATGAGGAGGAGGA	0.517																																																	0													148	110	123					X																	140984538		2203	4300	6503	SO:0001627	intron_variant	0			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.1124-130G>A	X.37:g.140984538G>A			Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E34K	ENST00000298296.1	37	c.100	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	g	10.60	1.396716	0.25205	.	.	ENSG00000165509	ENST00000536088;ENST00000544766;ENST00000409007	T;T;T	0.03889	3.77;3.77;3.77	1.18	1.18	0.20946	.	.	.	.	.	T	0.08758	0.0217	.	.	.	0.09310	N	0.999996	D	0.57571	0.98	P	0.59288	0.855	T	0.34650	-0.9820	8	0.24483	T	0.36	.	5.2968	0.15756	0.0:0.0:1.0:0.0	.	34	Q3SYA7	.	K	34	ENSP00000441107:E34K;ENSP00000440444:E34K;ENSP00000386566:E34K	ENSP00000386566:E34K	E	+	1	0	MAGEC3	140812204	0.029000	0.19370	0.173000	0.22940	0.112000	0.19704	0.330000	0.19715	0.860000	0.35481	0.179000	0.17066	GAG	MAGEC3	-	NULL	ENSG00000165509		0.517	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0	16	0	G	NM_138702		140984538	1	tier1	-	no_errors	ENST00000536088	ensembl	human	known	74_37	missense	90.48	2	19	SNP	0.165	A	A	140984538	G	A	140984538	1	1	158	0	1	0	0	0	0	0	0	0	9220	1291	45	3		3	MAGEC3	23	140984538	Intron	SNP	G	TCGA-V5-AASV-01A-11D-A387-09	29996536	140984538	14286022	205	40278											
RCAN3	11123	genome.wustl.edu	37	chr1	24861731	24861731	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgaccctccgaccgcagcGttgaatgagccccagacctt	8	6	9	18	4	0	3	0	2	0	1	1	5	1	3	7	0	2	2	7	0	1	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:24861731G>T	ENST00000374395.4	+	5	1003	c.690G>T	c.(688-690)gcG>gcT	p.A230A	RCAN3_ENST00000436717.2_Silent_p.A220A|RCAN3_ENST00000412742.2_Missense_Mutation_p.R173L|RCAN3_ENST00000538532.1_Silent_p.A172A|RCAN3_ENST00000374393.2_Missense_Mutation_p.R115L	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	230					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)	p.A230A(1)		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)		CGACCGCAGCGTTGAATGAGC	0.587																																																	1	Substitution - coding silent(1)	large_intestine(1)											52	51	51					1																	24861731		2203	4300	6503	SO:0001819	synonymous_variant	0				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.690G>T	1.37:g.24861731G>T			A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	pfam_Calcipressin	p.R173L	ENST00000374395.4	37	c.518	CCDS254.1	1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972910	0.53614	.	.	ENSG00000117602	ENST00000412742;ENST00000374393	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.23886	0.0578	.	.	.	0.09310	N	1	B;B	0.21381	0.055;0.013	B;B	0.19666	0.026;0.011	T	0.33240	-0.9876	7	0.62326	D	0.03	-18.5656	6.189	0.20513	0.2229:0.2639:0.4316:0.0816	.	115;173	E7EWD8;E7ENV1	.;.	L	173;115	.	ENSP00000363514:R115L	R	+	2	0	RCAN3	24734318	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.833000	0.00742	-2.922000	0.00304	-1.326000	0.01283	CGT	RCAN3	-	NULL	ENSG00000117602		0.587	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN3	HGNC	protein_coding	OTTHUMT00000009176.2		0	43	0	G			24861731	1			no_errors	ENST00000412742	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.000	T	T	24861731	G	T	24861731	2	4	159	1	0	0	0	0	0	0	0	1	13215	1132	40	2		2	RCAN3	1	24861731	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09		24861731	224388890	1	40279											
ZMYND12	84217	genome.wustl.edu	37	chr1	42914292	42914292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggctatggtgtagcaGaattcaatcaaatacttctg	11	14	9	7	0	4	1	2	0	2	1	4	1	4	1	0	2	2	3	0	2	6	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:42914292G>T	ENST00000372565.3	-	3	539	c.270C>A	c.(268-270)ttC>ttA	p.F90L	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	90						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTGTAGCAGAATTCAATCA	0.468																																																	0													98	88	91					1																	42914292		2203	4300	6503	SO:0001583	missense	0			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.270C>A	1.37:g.42914292G>T	ENSP00000361646:p.Phe90Leu		Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.F90L	ENST00000372565.3	37	c.270	CCDS467.1	1	.	.	.	.	.	.	.	.	.	.	G	3.477	-0.106644	0.06924	.	.	ENSG00000066185	ENST00000372565	T	0.61158	0.13	5.44	2.33	0.28932	Tetratricopeptide-like helical (1);	0.362006	0.31531	N	0.007485	T	0.11067	0.0270	N	0.00088	-2.19	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36237	-0.9756	10	0.02654	T	1	-8.4715	1.6322	0.02734	0.1857:0.1506:0.4884:0.1753	.	90	Q9H0C1	ZMY12_HUMAN	L	90	ENSP00000361646:F90L	ENSP00000361646:F90L	F	-	3	2	ZMYND12	42686879	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.281000	0.18810	1.289000	0.44618	0.561000	0.74099	TTC	ZMYND12	-	NULL	ENSG00000066185		0.468	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND12	HGNC	protein_coding	OTTHUMT00000019170.1		0	37	0	G	NM_032257		42914292	-1			no_errors	ENST00000372565	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.998	T	T	42914292	G	T	42914292	3	4	159	1	0	0	0	0	1	0	0	0	17755	933	33	3	851	3	ZMYND12	1	42914292	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	18052561	42914292	206336329	2	40280											
SLC2A1	6513	genome.wustl.edu	37	chr1	43396408	43396408	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggcacgaagcctgtggtCaggccgcagtacacaccgat	10	6	13	12	3	1	0	1	0	0	0	1	2	1	0	3	3	2	3	3	3	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:43396408C>G	ENST00000426263.3	-	4	583	c.405G>C	c.(403-405)ctG>ctC	p.L135L	SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Silent_p.L135L|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	135					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	AGCCTGTGGTCAGGCCGCAGT	0.622																																																	0													63	56	59					1																	43396408		2203	4300	6503	SO:0001819	synonymous_variant	0			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.405G>C	1.37:g.43396408C>G			A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt	p.L135	ENST00000426263.3	37	c.405	CCDS477.1	1																																																																																			SLC2A1	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	ENSG00000117394		0.622	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	HGNC	protein_coding	OTTHUMT00000020358.2	-	0	22	0	C	NM_006516		43396408	-1	tier1	-	no_errors	ENST00000426263	ensembl	human	known	74_37	silent	50.00	8	8	SNP	1.000	G	G	43396408	C	G	43396408	2	3	159	1	0	0	0	0	0	0	0	1	14583	813	29	5		5	SLC2A1	1	43396408	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	482116	43396408	205854213	3	40281											
LRRC7	57554	genome.wustl.edu	37	chr1	70541880	70541880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcaatttcagtcaccattgCctattcagatcccctcttca	10	13	4	14	0	5	1	4	0	1	1	6	1	6	1	4	0	2	1	4	0	2	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:70541880C>T	ENST00000035383.5	+	22	4267	c.4237C>T	c.(4237-4239)Cct>Tct	p.P1413S	LRRC7_ENST00000310961.5_Missense_Mutation_p.P1371S|LRRC7_ENST00000415775.2_Missense_Mutation_p.P697S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1413						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTCACCATTGCCTATTCAGAT	0.512																																																	0													99	93	95					1																	70541880		2203	4300	6503	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4237C>T	1.37:g.70541880C>T	ENSP00000035383:p.Pro1413Ser		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.P1413S	ENST00000035383.5	37	c.4237	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802483	0.90538	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.36520	1.25;1.31;2.41	6.06	6.06	0.98353	.	0.344302	0.31370	N	0.007776	T	0.31263	0.0791	N	0.08118	0	0.50313	D	0.999869	D;D;D	0.89917	0.986;1.0;1.0	P;D;D	0.87578	0.875;0.998;0.994	T	0.24404	-1.0161	10	0.24483	T	0.36	.	19.6279	0.95687	0.0:1.0:0.0:0.0	.	697;1366;1413	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	S	1371;1413;697;1189	ENSP00000309245:P1371S;ENSP00000035383:P1413S;ENSP00000394867:P697S	ENSP00000035383:P1413S	P	+	1	0	LRRC7	70314468	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.176000	0.71955	2.880000	0.98712	0.650000	0.86243	CCT	LRRC7	-	NULL	ENSG00000033122		0.512	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0	35	0	C	NM_020794		70541880	1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	40.00	12	8	SNP	1.000	T	T	70541880	C	T	70541880	3	4	159	1	0	0	0	0	1	0	0	0	9055	739	26	3	4323	3	LRRC7	1	70541880	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	27145472	70541880	178708741	4	40282											
IFI44L	10964	genome.wustl.edu	37	chr1	79095535	79095535	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcaattcagtcaagtctAtttttcatggccatgtgact	9	18	6	8	0	5	1	4	1	1	0	5	1	5	1	1	1	0	0	1	1	3	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:79095535A>G	ENST00000370751.5	+	4	837	c.658A>G	c.(658-660)Att>Gtt	p.I220V	IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	220					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGTCAAGTCTATTTTTCATGG	0.428																																																	0													103	103	103					1																	79095535		2203	4300	6503	SO:0001583	missense	0			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.658A>G	1.37:g.79095535A>G	ENSP00000359787:p.Ile220Val		Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.I220V	ENST00000370751.5	37	c.658	CCDS687.2	1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.683253	0.00745	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.12879	2.79;2.64	2.95	-3.26	0.05064	.	0.968356	0.08431	N	0.946885	T	0.01061	0.0035	N	0.02334	-0.595	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49826	-0.8898	10	0.02654	T	1	-4.3711	8.48	0.33036	0.585:0.0:0.415:0.0	.	220	Q53G44	IF44L_HUMAN	V	220;197	ENSP00000359787:I220V;ENSP00000400784:I197V	ENSP00000359787:I220V	I	+	1	0	IFI44L	78868123	0.083000	0.21467	0.262000	0.24481	0.619000	0.37552	-0.010000	0.12743	-0.733000	0.04850	-0.308000	0.09152	ATT	IFI44L	-	superfamily_P-loop_NTPase	ENSG00000137959		0.428	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44L	HGNC	protein_coding	OTTHUMT00000026834.3	-	0	41	0	A	NM_006820		79095535	1	tier1	-	no_errors	ENST00000370751	ensembl	human	known	74_37	missense	34.88	27	15	SNP	0.863	G	G	79095535	A	G	79095535	3	3	159	1	0	0	0	0	1	0	0	0	7545	449	16	4	668	4	IFI44L	1	79095535	Missense_Mutation	SNP	A	TCGA-V5-AASW-01A-11D-A403-09	8553655	79095535	170155086	5	40283											
RPF1	80135	genome.wustl.edu	37	chr1	84961948	84961948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatattcaggagtgaaaaGaaagtgggaattcaggaact	17	9	11	4	0	2	2	2	1	0	1	2	5	2	5	0	3	2	0	0	3	7	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:84961948G>T	ENST00000370654.5	+	8	918	c.903G>T	c.(901-903)aaG>aaT	p.K301N	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	301	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						GGAGTGAAAAGAAAGTGGGAA	0.333																																																	0													75	78	77					1																	84961948		2203	4300	6503	SO:0001583	missense	0			AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"RNA processing factor 1", "ribosome production factor 1"		"brix domain containing 5"	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.903G>T	1.37:g.84961948G>T	ENSP00000359688:p.Lys301Asn		Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.K301N	ENST00000370654.5	37	c.903	CCDS695.1	1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628407	0.46944	.	.	ENSG00000117133	ENST00000370654	T	0.23552	1.9	6.07	3.23	0.37069	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.15782	0.0380	M	0.63843	1.955	0.53688	D	0.999972	B	0.29212	0.237	B	0.35114	0.196	T	0.02893	-1.1097	10	0.66056	D	0.02	-16.4377	10.0752	0.42355	0.2648:0.0:0.7352:0.0	.	301	Q9H9Y2	RPF1_HUMAN	N	301	ENSP00000359688:K301N	ENSP00000359688:K301N	K	+	3	2	RPF1	84734536	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.688000	0.46984	0.460000	0.27045	-0.150000	0.13652	AAG	RPF1	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	ENSG00000117133		0.333	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPF1	HGNC	protein_coding	OTTHUMT00000027238.1		0	55	0	G	NM_025065		84961948	1			no_errors	ENST00000370654	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	84961948	G	T	84961948	3	4	159	1	0	0	0	0	1	0	0	0	13591	933	33	3	933	3	RPF1	1	84961948	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	5866413	84961948	164288673	6	40284											
MTF2	22823	genome.wustl.edu	37	chr1	93575872	93575872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaacatccttgaccaagCtgtctttacaggatggacat	11	10	7	13	0	1	1	0	1	1	0	2	3	2	3	4	2	3	1	4	2	3	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:93575872C>T	ENST00000370298.4	+	2	380	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Intron|MTF2_ENST00000370303.4_Silent_p.L31L|MTF2_ENST00000540243.1_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	31					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CTTGACCAAGCTGTCTTTACA	0.448																																																	0													138	135	136					1																	93575872		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"Tudor domain containing", "Zinc fingers, PHD-type"	29535	protein-coding gene	gene with protein product	"polycomb-like 2", "tudor domain containing 19A"	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.91C>T	1.37:g.93575872C>T			A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L31	ENST00000370298.4	37	c.91	CCDS742.1	1																																																																																			MTF2	-	NULL	ENSG00000143033		0.448	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF2	HGNC	protein_coding	OTTHUMT00000028075.3	-	0	64	0	C	NM_007358		93575872	1	tier1	-	no_errors	ENST00000370298	ensembl	human	known	74_37	silent	43.10	33	25	SNP	1.000	T	T	93575872	C	T	93575872	2	4	159	1	0	0	0	0	0	0	0	1	9961	796	28	3		3	MTF2	1	93575872	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	8613924	93575872	155674749	7	40285											
GPSM2	29899	genome.wustl.edu	37	chr1	109428158	109428158	+	Missense_Mutation	SNP	T	T	G	0	1	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	tgactcgatggaggaaaattTgataagcatgagagaagacc	16	8	12	5	1	0	5	0	3	0	2	1	9	0	7	1	2	1	1	1	2	4	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:109428158T>G	ENST00000406462.2	+	3	787	c.14T>G	c.(13-15)tTg>tGg	p.L5W	GPSM2_ENST00000264126.3_Missense_Mutation_p.L5W|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	5					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GAGGAAAATTTGATAAGCATG	0.289																																																	0													115	121	119					1																	109428158		2203	4296	6499	SO:0001583	missense	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.14T>G	1.37:g.109428158T>G	ENSP00000385510:p.Leu5Trp		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L5W	ENST00000406462.2	37	c.14	CCDS792.2	1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985819	0.74589	.	.	ENSG00000121957	ENST00000406462;ENST00000435987;ENST00000264126;ENST00000435475;ENST00000446797	D;D;D	0.94576	-3.46;-2.71;-3.46	5.62	5.62	0.85841	.	0.101272	0.42172	D	0.000747	D	0.91855	0.7422	N	0.08118	0	0.35700	D	0.815587	D	0.76494	0.999	D	0.81914	0.995	D	0.94990	0.8133	10	0.87932	D	0	0.4938	14.6851	0.69044	0.0:0.0:0.0:1.0	.	5	P81274	GPSM2_HUMAN	W	5	ENSP00000385510:L5W;ENSP00000408664:L5W;ENSP00000264126:L5W	ENSP00000264126:L5W	L	+	2	0	GPSM2	109229681	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.461000	0.66699	2.260000	0.74910	0.528000	0.53228	TTG	GPSM2	-	NULL	ENSG00000121957		0.289	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	-	0	55	0	T	NM_013296		109428158	1	tier1	-	no_errors	ENST00000264126	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	G	G	109428158	T	G	109428158	3	3	159	1	0	0	0	0	1	0	0	0	6762	1821	63	4	16	4	GPSM2	1	109428158	Missense_Mutation	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	15852286	109428158	139822463	8	40286											
GPSM2	29899	genome.wustl.edu	37	chr1	109428170	109428170	+	Missense_Mutation	SNP	G	G	A																															ggaaaatttgataagcatgaGagaagaccattcttttcatg																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:109428170G>A	ENST00000406462.2	+	3	799	c.26G>A	c.(25-27)aGa>aAa	p.R9K	GPSM2_ENST00000264126.3_Missense_Mutation_p.R9K|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	9					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		ATAAGCATGAGAGAAGACCAT	0.303																																																	0													127	133	131					1																	109428170		2203	4296	6499	SO:0001583	missense	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.26G>A	1.37:g.109428170G>A	ENSP00000385510:p.Arg9Lys		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R9K	ENST00000406462.2	37	c.26	CCDS792.2	1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199119	0.58126	.	.	ENSG00000121957	ENST00000406462;ENST00000435987;ENST00000264126;ENST00000435475;ENST00000446797	D;D;D	0.92911	-3.13;-2.35;-3.13	5.62	5.62	0.85841	.	0.138954	0.49305	D	0.000148	T	0.75895	0.3912	N	0.08118	0	0.27814	N	0.942036	B	0.26002	0.139	B	0.24006	0.05	T	0.69312	-0.5178	10	0.46703	T	0.11	0.5901	15.3314	0.74215	0.0:0.1386:0.8614:0.0	.	9	P81274	GPSM2_HUMAN	K	9	ENSP00000385510:R9K;ENSP00000408664:R9K;ENSP00000264126:R9K	ENSP00000264126:R9K	R	+	2	0	GPSM2	109229693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.989000	0.63870	2.801000	0.96364	0.650000	0.86243	AGA	GPSM2	-	NULL	ENSG00000121957		0.303	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	-	0	60	0	G	NM_013296		109428170	1	tier1	-	no_errors	ENST00000264126	ensembl	human	known	74_37	missense	20.34	47	12	SNP	1.000	A	A	109428170	G	A	109428170	3	1	159	1	0	0	0	0	1	0	0	0	6762	942	33	3	28	3	GPSM2	1	109428170	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	12	109428170	139822451	9	40287	142	2									
GPSM2	29899	genome.wustl.edu	37	chr1	109428178	109428178	+	Missense_Mutation	SNP	C	C	A																															tgataagcatgagagaagacCattcttttcatgttcgttac																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:109428178C>A	ENST00000406462.2	+	3	807	c.34C>A	c.(34-36)Cat>Aat	p.H12N	GPSM2_ENST00000264126.3_Missense_Mutation_p.H12N|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	12					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GAGAGAAGACCATTCTTTTCA	0.303																																																	0													128	134	132					1																	109428178		2203	4296	6499	SO:0001583	missense	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.34C>A	1.37:g.109428178C>A	ENSP00000385510:p.His12Asn		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H12N	ENST00000406462.2	37	c.34	CCDS792.2	1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177624	0.38413	.	.	ENSG00000121957	ENST00000406462;ENST00000435987;ENST00000264126;ENST00000435475;ENST00000446797	D;D;D	0.92595	-3.07;-2.32;-3.07	5.62	5.62	0.85841	.	0.073127	0.56097	D	0.000023	T	0.69052	0.3068	N	0.01168	-0.975	0.28934	N	0.891417	B	0.22276	0.067	B	0.21917	0.037	T	0.58907	-0.7553	10	0.25106	T	0.35	8.9705	18.2007	0.89836	0.0:1.0:0.0:0.0	.	12	P81274	GPSM2_HUMAN	N	12	ENSP00000385510:H12N;ENSP00000408664:H12N;ENSP00000264126:H12N	ENSP00000264126:H12N	H	+	1	0	GPSM2	109229701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.822000	0.48073	2.801000	0.96364	0.650000	0.86243	CAT	GPSM2	-	NULL	ENSG00000121957		0.303	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	-	0	63	0	C	NM_013296		109428178	1	tier1	-	no_errors	ENST00000264126	ensembl	human	known	74_37	missense	22.58	48	14	SNP	1.000	A	A	109428178	C	A	109428178	3	1	159	1	0	0	0	0	1	0	0	0	6762	594	21	3	36	3	GPSM2	1	109428178	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	8	109428178	139822443	10	40288	142	2									
IGSF3	3321	genome.wustl.edu	37	chr1	117127627	117127627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagctgtacctgccgggtctCcagaaccgacaggttcccct	7	8	10	16	2	1	1	0	0	1	1	3	2	2	1	6	2	4	3	6	2	2	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:117127627C>G	ENST00000369486.3	-	9	3253	c.2488G>C	c.(2488-2490)Gag>Cag	p.E830Q	IGSF3_ENST00000369483.1_Missense_Mutation_p.E850Q|IGSF3_ENST00000318837.6_Missense_Mutation_p.E850Q	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	830	Ig-like C2-type 7.				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)		TGCCGGGTCTCCAGAACCGAC	0.557																																																	0													35	37	36					1																	117127627		2202	4299	6501	SO:0001583	missense	0			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.2488G>C	1.37:g.117127627C>G	ENSP00000358498:p.Glu830Gln		A6NJZ6|A6NMC7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E850Q	ENST00000369486.3	37	c.2548	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748409	0.69533	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.68765	-0.35;-0.35;-0.35	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.671525	0.13983	N	0.349344	T	0.55081	0.1898	L	0.47716	1.5	0.45962	D	0.998786	P;B;P	0.42827	0.751;0.128;0.791	B;B;B	0.43508	0.297;0.144;0.422	T	0.61118	-0.7127	10	0.62326	D	0.03	-32.4853	13.8519	0.63501	0.0:1.0:0.0:0.0	.	850;830;850	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	Q	830;850;850	ENSP00000358498:E830Q;ENSP00000358495:E850Q;ENSP00000321184:E850Q	ENSP00000321184:E850Q	E	-	1	0	IGSF3	116929150	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.124000	0.71620	2.631000	0.89168	0.655000	0.94253	GAG	IGSF3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143061		0.557	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1		0	25	0	C	NM_001542		117127627	-1			no_errors	ENST00000318837	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	G	G	117127627	C	G	117127627	3	3	159	1	0	0	0	0	1	0	0	0	7628	864	30	5	1108	5	IGSF3	1	117127627	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	7699449	117127627	132122994	11	40289											
CGN	57530	genome.wustl.edu	37	chr1	151491490	151491490	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctagccccgaaagtggcttcCccaggtagcaccattgacac	10	7	9	15	1	0	1	0	1	0	0	1	2	1	1	5	2	2	3	5	2	3	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:151491490C>T	ENST00000271636.7	+	2	628	c.495C>T	c.(493-495)tcC>tcT	p.S165S		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	159	Head.|Interacts with ZO-2.				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)			AAGTGGCTTCCCCAGGTAGCA	0.592																																																	0													73	75	74					1																	151491490		2203	4300	6503	SO:0001819	synonymous_variant	0			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.495C>T	1.37:g.151491490C>T			A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	pfam_Myosin_tail	p.S165	ENST00000271636.7	37	c.495	CCDS999.1	1																																																																																			CGN	-	NULL	ENSG00000143375		0.592	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	-	0	35	0	C	NM_020770		151491490	1	tier1	-	no_errors	ENST00000271636	ensembl	human	known	74_37	silent	44.83	16	13	SNP	0.259	T	T	151491490	C	T	151491490	2	4	159	1	0	0	0	0	0	0	0	1	3310	610	22	3		3	CGN	1	151491490	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	34363863	151491490	97759131	12	40290											
HRNR	388697	genome.wustl.edu	37	chr1	152186614	152186614	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctccatgttggccacagctCgatgactgtcctgatgtaga	8	11	11	11	1	0	3	0	2	0	1	3	4	2	3	3	1	1	4	3	1	1	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:152186614C>G	ENST00000368801.2	-	3	7566	c.7491G>C	c.(7489-7491)tcG>tcC	p.S2497S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2497					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.557																																																	0													1	1	1					1																	152186614		84	271	355	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7491G>C	1.37:g.152186614C>G			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S2497	ENST00000368801.2	37	c.7491	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	17	0	C	XM_373868		152186614	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	28.57	14	6	SNP	0.000	G	G	152186614	C	G	152186614	2	3	159	1	0	0	0	0	0	0	0	1	7386	871	31	5		5	HRNR	1	152186614	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	695124	152186614	97064007	13	40291											
ZBTB7B	51043	genome.wustl.edu	37	chr1	154987921	154987921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctcccacaggaactgcctCccctcctgagggtccccaga	7	6	8	20	0	0	2	0	1	0	1	4	3	4	3	8	2	2	0	8	2	1	0			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:154987921C>T	ENST00000368426.3	+	3	922	c.785C>T	c.(784-786)tCc>tTc	p.S262F	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.S262F|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.S262F|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.S296F	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	262					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)			GGAACTGCCTCCCCTCCTGAG	0.652																																																	0													27	28	28					1																	154987921		2202	4300	6502	SO:0001583	missense	0			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.785C>T	1.37:g.154987921C>T	ENSP00000357411:p.Ser262Phe		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S296F	ENST00000368426.3	37	c.887	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201643	0.58234	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.09911	2.95;2.95;2.93;2.95	4.3	4.3	0.51218	.	0.442996	0.18095	N	0.151872	T	0.11367	0.0277	L	0.27053	0.805	0.43896	D	0.996523	D;D;D	0.65815	0.995;0.995;0.995	P;P;P	0.61328	0.887;0.839;0.887	T	0.06826	-1.0805	10	0.59425	D	0.04	.	14.2965	0.66316	0.0:1.0:0.0:0.0	.	262;262;296	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	F	262;262;296;262	ENSP00000438647:S262F;ENSP00000357411:S262F;ENSP00000406286:S296F;ENSP00000292176:S262F	ENSP00000292176:S262F	S	+	2	0	ZBTB7B	153254545	0.981000	0.34729	0.745000	0.31077	0.513000	0.34164	3.051000	0.49885	2.229000	0.72834	0.462000	0.41574	TCC	ZBTB7B	-	NULL	ENSG00000160685		0.652	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	-	0	23	0	C	NM_015872		154987921	1	tier1	-	no_errors	ENST00000417934	ensembl	human	known	74_37	missense	44.83	16	13	SNP	0.963	T	T	154987921	C	T	154987921	3	4	159	1	0	0	0	0	1	0	0	0	17602	855	30	3	787	3	ZBTB7B	1	154987921	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	2801307	154987921	94262700	14	40292											
PKLR	5313	genome.wustl.edu	37	chr1	155265486	155265486	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ccgtgggagaagttgagtcgCgcaatgttcatcccggcctt	7	10	13	11	4	1	2	1	1	0	1	3	3	2	2	3	2	0	3	3	2	2	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:155265486C>T	ENST00000342741.4	-	3	383	c.345G>A	c.(343-345)gcG>gcA	p.A115A	PKLR_ENST00000392414.3_Silent_p.A84A	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	115			A -> P (in PKRD; Val de Marne).		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)	AGTTGAGTCGCGCAATGTTCA	0.642																																																	0													115	92	100					1																	155265486		2203	4300	6503	SO:0001819	synonymous_variant	0			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.345G>A	1.37:g.155265486C>T			O75758|P11973	Silent	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.A115	ENST00000342741.4	37	c.345	CCDS1109.1	1																																																																																			PKLR	-	pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,tigrfam_Pyr_Knase	ENSG00000143627		0.642	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2	-	0	33	0	C	NM_000298		155265486	-1	tier1	-	no_errors	ENST00000342741	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.915	T	T	155265486	C	T	155265486	2	4	159	1	0	0	0	0	0	0	0	1	12015	755	27	1		1	PKLR	1	155265486	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	277565	155265486	93985135	15	40293											
HDGF	3068	genome.wustl.edu	37	chr1	156713965	156713965	+	Missense_Mutation	SNP	T	T	A	0	1	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	cagcagttacctccagcaagTcccctgctctcctcttcaac	8	10	5	18	0	3	0	1	0	2	0	6	0	5	0	5	0	5	4	5	0	3	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:156713965T>A	ENST00000357325.5	-	4	793	c.479A>T	c.(478-480)gAc>gTc	p.D160V	HDGF_ENST00000416666.2_Missense_Mutation_p.D128V|HDGF_ENST00000537739.1_Missense_Mutation_p.D160V|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Missense_Mutation_p.D176V|HDGF_ENST00000368209.5_Missense_Mutation_p.D153V	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	160	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)		CTCCAGCAAGTCCCCTGCTCT	0.617																																																	0													256	215	229					1																	156713965		2203	4300	6503	SO:0001583	missense	0			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.479A>T	1.37:g.156713965T>A	ENSP00000349878:p.Asp160Val		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	pfam_PWWP_dom	p.D176V	ENST00000357325.5	37	c.527	CCDS1156.1	1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.413598	0.62511	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.35048	1.77;1.35;1.77;1.38;1.33	4.6	4.6	0.57074	.	0.134244	0.48767	U	0.000168	T	0.39860	0.1094	L	0.55990	1.75	0.54753	D	0.999989	D;D;D;P;D	0.69078	0.969;0.977;0.997;0.745;0.988	P;P;P;B;P	0.61874	0.704;0.779;0.895;0.425;0.779	T	0.28870	-1.0030	10	0.49607	T	0.09	-12.6919	12.0212	0.53344	0.0:0.0:0.0:1.0	.	135;160;176;153;160	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.;.;.;.;HDGF_HUMAN	V	160;153;160;128;176;183	ENSP00000349878:D160V;ENSP00000357192:D153V;ENSP00000443120:D160V;ENSP00000416752:D128V;ENSP00000357189:D176V	ENSP00000349878:D160V	D	-	2	0	HDGF	154980589	1.000000	0.71417	0.996000	0.52242	0.762000	0.43233	4.474000	0.60203	1.936000	0.56123	0.369000	0.22263	GAC	HDGF	-	NULL	ENSG00000143321		0.617	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	HGNC	protein_coding	OTTHUMT00000098946.1	-	0	17	0	T	NM_004494		156713965	-1	tier1	-	no_errors	ENST00000368206	ensembl	human	known	74_37	missense	36.36	14	8	SNP	0.997	A	A	156713965	T	A	156713965	3	1	159	1	0	0	0	0	1	0	0	0	7045	1667	58	5	255	5	HDGF	1	156713965	Missense_Mutation	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	1448479	156713965	92536656	16	40294											
OR10J5	127385	genome.wustl.edu	37	chr1	159505479	159505479	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcaattattagtggccaAgataacaaaaaagaacattt	20	9	7	5	0	0	2	0	0	0	2	0	3	0	2	1	1	3	1	1	1	10	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:159505479A>G	ENST00000334857.2	-	1	363	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	107						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)					TTAGTGGCCAAGATAACAAAA	0.458																																																	0													121	106	112					1																	159505479		2203	4300	6503	SO:0001819	synonymous_variant	0				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.319T>C	1.37:g.159505479A>G			B9EH35|Q6IFH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L107	ENST00000334857.2	37	c.319	CCDS30910.1	1																																																																																			OR10J5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184155		0.458	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1	-	0	57	0	A	NM_001004469		159505479	-1	tier1	-	no_errors	ENST00000334857	ensembl	human	known	74_37	silent	24.62	49	16	SNP	0.476	G	G	159505479	A	G	159505479	2	3	159	1	0	0	0	0	0	0	0	1	10951	69	3	4		4	OR10J5	1	159505479	Silent	SNP	A	TCGA-V5-AASW-01A-11D-A403-09	2791514	159505479	89745142	17	40295											
C1orf111	284680	genome.wustl.edu	37	chr1	162343935	162343935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagagcctgtctcccagcCgggccttctgctccttgctc	4	10	11	16	1	2	1	0	0	2	1	5	2	3	1	5	2	4	2	5	2	0	2	rs528900704	byFrequency	TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:162343935C>T	ENST00000367935.5	-	3	768	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	230										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GTCTCCCAGCCGGGCCTTCTG	0.567													C|||	4	0.000798722	0	0	5008	,	,		18360	0		0	False		,,,				2504	0.0041																0													104	109	107					1																	162343935		2203	4300	6503	SO:0001583	missense	0			BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.689G>A	1.37:g.162343935C>T	ENSP00000356912:p.Arg230Gln		Q6X961|Q8NEC3	Missense_Mutation	SNP	NULL	p.R230Q	ENST00000367935.5	37	c.689	CCDS1238.1	1	.	.	.	.	.	.	.	.	.	.	C	3.496	-0.102744	0.06967	.	.	ENSG00000171722	ENST00000367935	T	0.32753	1.44	5.21	3.33	0.38152	.	0.554110	0.17739	N	0.163616	T	0.04182	0.0116	N	0.12746	0.255	0.23449	N	0.997655	P	0.50710	0.938	B	0.35510	0.204	T	0.17961	-1.0352	9	0.19147	T	0.46	-15.9253	5.6871	0.17809	0.3517:0.5581:0.0:0.0903	.	230	Q5T0L3	CA111_HUMAN	Q	230	ENSP00000356912:R230Q	ENSP00000356912:R230Q	R	-	2	0	C1orf111	160610559	0.001000	0.12720	0.205000	0.23548	0.001000	0.01503	1.078000	0.30754	1.178000	0.42870	-0.152000	0.13540	CGG	C1orf111	-	NULL	ENSG00000171722		0.567	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf111	HGNC	protein_coding	OTTHUMT00000076791.2	-	0	42	0	C	NM_182581		162343935	-1	tier1	-	no_errors	ENST00000367935	ensembl	human	known	74_37	missense	57.89	16	22	SNP	0.012	T	T	162343935	C	T	162343935	3	4	159	1	0	0	0	0	1	0	0	0	1991	652	23	1	100	1	C1orf111	1	162343935	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	2838456	162343935	86906686	18	40296											
FAM78B	149297	genome.wustl.edu	37	chr1	166039702	166039702	+	Missense_Mutation	SNP	T	T	C	0	1	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	cctcatcctccacttgatggTctgcagaatgatcttctcct	7	14	6	14	0	4	3	1	2	3	1	7	3	6	3	4	1	1	1	4	1	1	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:166039702T>C	ENST00000338353.3	-	3	1151	c.562A>G	c.(562-564)Acc>Gcc	p.T188A	FAM78B_ENST00000354422.3_Missense_Mutation_p.T188A			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	188										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CACTTGATGGTCTGCAGAATG	0.572																																																	0													203	181	189					1																	166039702		2203	4300	6503	SO:0001583	missense	0			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.562A>G	1.37:g.166039702T>C	ENSP00000339681:p.Thr188Ala		B7Z693	Missense_Mutation	SNP	NULL	p.T188A	ENST00000338353.3	37	c.562	CCDS30931.1	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135365	0.77662	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	M	0.74881	2.28	0.48511	D	0.999666	D	0.61697	0.99	D	0.70935	0.971	T	0.78191	-0.2300	8	0.72032	D	0.01	-0.8519	14.122	0.65195	0.0:0.0:0.0:1.0	.	188	Q5VT40	FA78B_HUMAN	A	188	.	ENSP00000339681:T188A	T	-	1	0	FAM78B	164306326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.930000	0.87610	2.217000	0.71921	0.533000	0.62120	ACC	FAM78B	-	NULL	ENSG00000188859		0.572	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78B	HGNC	protein_coding	OTTHUMT00000343108.1	-	0	24	0	T	NM_001017961		166039702	-1	tier1	-	no_errors	ENST00000338353	ensembl	human	known	74_37	missense	73.91	6	17	SNP	1.000	C	C	166039702	T	C	166039702	3	2	159	1	0	0	0	0	1	0	0	0	5649	1667	58	4	227	4	FAM78B	1	166039702	Missense_Mutation	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	3695767	166039702	83210919	19	40297											
GPR52	9293	genome.wustl.edu	37	chr1	174417291	174417291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggaggatcctgaacatGagcagtggcattgtgaatgt	12	10	14	5	0	0	3	0	3	0	0	1	6	1	5	1	3	2	2	1	3	3	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:174417291G>T	ENST00000367685.2	+	1	80	c.42G>T	c.(40-42)atG>atT	p.M14I	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	14					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TCCTGAACATGAGCAGTGGCA	0.507																																					Ovarian(92;924 1390 1930 16467 40583)												0													185	152	163					1																	174417291		2203	4300	6503	SO:0001583	missense	0			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.42G>T	1.37:g.174417291G>T	ENSP00000356658:p.Met14Ile		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.M14I	ENST00000367685.2	37	c.42	CCDS30941.1	1	.	.	.	.	.	.	.	.	.	.	G	7.916	0.737502	0.15574	.	.	ENSG00000203737	ENST00000367685	T	0.59502	0.26	6.03	4.09	0.47781	.	0.860593	0.09691	U	0.768391	T	0.41949	0.1181	N	0.19112	0.55	0.22819	N	0.998698	B	0.02656	0.0	B	0.01281	0.0	T	0.26395	-1.0104	10	0.22109	T	0.4	2.0647	10.1601	0.42847	0.0671:0.2607:0.6722:0.0	.	14	Q9Y2T5	GPR52_HUMAN	I	14	ENSP00000356658:M14I	ENSP00000356658:M14I	M	+	3	0	GPR52	172683914	1.000000	0.71417	0.788000	0.31933	0.993000	0.82548	2.884000	0.48562	0.808000	0.34231	0.655000	0.94253	ATG	GPR52	-	NULL	ENSG00000203737		0.507	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	HGNC	protein_coding	OTTHUMT00000084511.1	-	0	37	0	G	NM_005684		174417291	1	tier1	-	no_errors	ENST00000367685	ensembl	human	known	74_37	missense	52.78	17	19	SNP	0.946	T	T	174417291	G	T	174417291	3	4	159	1	0	0	0	0	1	0	0	0	6724	1290	45	3	44	3	GPR52	1	174417291	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	8377589	174417291	74833330	20	40298											
FAM5B	57795	genome.wustl.edu	37	chr1	177249883	177249883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagaagcaggatagccGcattgaggtacactccatct	11	8	11	11	1	1	2	0	1	1	1	2	3	2	3	2	2	4	5	2	2	3	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:177249883G>A	ENST00000361539.4	+	8	1883	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	524					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)		p.R524H(1)									CAGGATAGCCGCATTGAGGTA	0.567																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											42	38	40					1																	177249883		2203	4300	6503	SO:0001583	missense	0				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.1571G>A	1.37:g.177249883G>A	ENSP00000354481:p.Arg524His		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R524H	ENST00000361539.4	37	c.1571	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147035	0.77888	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.56444	0.46	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.77958	-0.2392	10	0.87932	D	0	-20.1931	18.6898	0.91578	0.0:0.0:1.0:0.0	.	419;524	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	H	277;524	ENSP00000354481:R524H	ENSP00000354481:R524H	R	+	2	0	FAM5B	175516506	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.731000	0.98807	2.514000	0.84764	0.313000	0.20887	CGC	BRINP2	-	NULL	ENSG00000198797		0.567	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	HGNC	protein_coding	OTTHUMT00000084599.1	-	0	14	0	G	NM_021165		177249883	1	tier1	-	no_errors	ENST00000361539	ensembl	human	known	74_37	missense	45.45	6	5	SNP	1.000	A	A	177249883	G	A	177249883	3	1	159	1	0	0	0	0	1	0	0	0	5615	1087	38	1	1597	1	FAM5B	1	177249883	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	2832592	177249883	72000738	21	40299											
TOR1AIP2	163590	genome.wustl.edu	37	chr1	179820407	179820407	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaccacaggcagagtgtagGatctcagcttcttcagcatt	11	10	10	10	0	3	2	2	0	2	2	4	3	3	3	1	2	2	4	1	2	1	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:179820407G>T	ENST00000367612.3	-	4	513	c.126C>A	c.(124-126)atC>atA	p.I42I	TOR1AIP2_ENST00000609928.1_Silent_p.I42I	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						CAGAGTGTAGGATCTCAGCTT	0.433																																																	0													136	135	136					1																	179820407		2203	4300	6503	SO:0001819	synonymous_variant	0				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.126C>A	1.37:g.179820407G>T			Q05BU2	Silent	SNP	pfam_Lamina-ass_polypeptide_CLAP1C	p.I42	ENST00000367612.3	37	c.126	CCDS1334.1	1																																																																																			TOR1AIP2	-	pfam_Lamina-ass_polypeptide_CLAP1C	ENSG00000169905		0.433	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1AIP2	HGNC	protein_coding	OTTHUMT00000085304.1	-	0	39	0	G	NM_145034		179820407	-1	tier1	-	no_errors	ENST00000367612	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.003	T	T	179820407	G	T	179820407	2	4	159	1	0	0	0	0	0	0	0	1	16421	1164	41	3		3	TOR1AIP2	1	179820407	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	2570524	179820407	69430214	22	40300											
KCNH1	3756	genome.wustl.edu	37	chr1	211093036	211093036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctcaatgtctgtggatggggCgatgttcccaaagcccacac	9	9	11	12	1	2	0	1	0	1	0	3	2	3	1	2	3	1	1	2	3	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:211093036C>T	ENST00000271751.4	-	7	1435	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	KCNH1_ENST00000367007.4_Missense_Mutation_p.A443T			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	470					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)	p.A470T(1)|p.A470S(1)		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)		GTGGATGGGGCGATGTTCCCA	0.507																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)											162	154	157					1																	211093036		2203	4300	6503	SO:0001583	missense	0			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.1408G>A	1.37:g.211093036C>T	ENSP00000271751:p.Ala470Thr		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.A470T	ENST00000271751.4	37	c.1408	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041835	0.93685	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98419	-4.92;-4.92	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	L	0.35793	1.09	0.80722	D	1	D;D	0.69078	0.988;0.997	P;D	0.65874	0.901;0.939	D	0.99844	1.1064	10	0.87932	D	0	.	18.5224	0.90958	0.0:1.0:0.0:0.0	.	443;470	Q14CL3;O95259	.;KCNH1_HUMAN	T	470;443	ENSP00000271751:A470T;ENSP00000355974:A443T	ENSP00000271751:A470T	A	-	1	0	KCNH1	209159659	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	7.538000	0.82048	2.623000	0.88846	0.561000	0.74099	GCC	KCNH1	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom	ENSG00000143473		0.507	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	-	0	47	0	C	NM_002238		211093036	-1	tier1	-	no_errors	ENST00000271751	ensembl	human	known	74_37	missense	54.29	16	19	SNP	1.000	T	T	211093036	C	T	211093036	3	4	159	1	0	0	0	0	1	0	0	0	8058	768	27	1	1581	1	KCNH1	1	211093036	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	31272629	211093036	38157585	23	40301											
DTL	51514	genome.wustl.edu	37	chr1	212241589	212241589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcaaagtatgggatttacGtaagaattatactgcttatc	15	14	7	5	1	1	1	1	0	0	1	2	2	1	2	0	1	3	3	0	1	9	7			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:212241589G>A	ENST00000366991.4	+	9	1051	c.737G>A	c.(736-738)cGt>cAt	p.R246H	DTL_ENST00000475419.1_Intron|DTL_ENST00000542077.1_Missense_Mutation_p.R204H	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	246					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)		TGGGATTTACGTAAGAATTAT	0.368																																																	0													88	85	86					1																	212241589		2203	4300	6503	SO:0001583	missense	0			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.737G>A	1.37:g.212241589G>A	ENSP00000355958:p.Arg246His		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R246H	ENST00000366991.4	37	c.737	CCDS1502.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664937	0.88251	.	.	ENSG00000143476	ENST00000366991;ENST00000542077	T;T	0.23147	1.92;1.92	5.58	4.64	0.57946	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	0.58090	0.2098	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67146	-0.5744	10	0.59425	D	0.04	-12.4337	12.8929	0.58082	0.0831:0.0:0.9169:0.0	.	204;246	F5GZ90;Q9NZJ0	.;DTL_HUMAN	H	246;204	ENSP00000355958:R246H;ENSP00000443870:R204H	ENSP00000355958:R246H	R	+	2	0	DTL	210308212	1.000000	0.71417	0.949000	0.38748	0.985000	0.73830	8.201000	0.89735	1.423000	0.47198	0.637000	0.83480	CGT	DTL	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000143476		0.368	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTL	HGNC	protein_coding	OTTHUMT00000090182.1	-	0	102	0	G	NM_016448		212241589	1	tier1	-	no_errors	ENST00000366991	ensembl	human	known	74_37	missense	5.50	103	6	SNP	1.000	A	A	212241589	G	A	212241589	3	1	159	1	0	0	0	0	1	0	0	0	4801	1145	40	1	771	1	DTL	1	212241589	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	1148553	212241589	37009032	24	40302											
ESRRG	2104	genome.wustl.edu	37	chr1	216850796	216850796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggacgaacagctggaatCaatgtgtcgatctttgtttg	11	12	12	6	2	2	0	1	0	1	0	3	5	2	2	0	2	2	2	0	2	4	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:216850796C>T	ENST00000408911.3	-	2	247	c.94G>A	c.(94-96)Gat>Aat	p.D32N	ESRRG_ENST00000487276.1_Missense_Mutation_p.D9N|ESRRG_ENST00000366938.2_Missense_Mutation_p.D9N|ESRRG_ENST00000361395.2_Missense_Mutation_p.D9N|ESRRG_ENST00000493748.1_Missense_Mutation_p.D9N|ESRRG_ENST00000360012.3_Missense_Mutation_p.D9N|ESRRG_ENST00000361525.3_Missense_Mutation_p.D9N|ESRRG_ENST00000366937.1_Missense_Mutation_p.D37N|ESRRG_ENST00000391890.3_Missense_Mutation_p.D9N|ESRRG_ENST00000463665.1_Missense_Mutation_p.D9N|ESRRG_ENST00000359162.2_Missense_Mutation_p.D9N|ESRRG_ENST00000366940.2_Missense_Mutation_p.D9N|ESRRG_ENST00000493603.1_Missense_Mutation_p.D9N	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	32					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)	CAGCTGGAATCAATGTGTCGA	0.517																																																	0													85	75	79					1																	216850796		2203	4300	6503	SO:0001583	missense	0			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.94G>A	1.37:g.216850796C>T	ENSP00000386171:p.Asp32Asn		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.D32N	ENST00000408911.3	37	c.94	CCDS41468.1	1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347972	0.61183	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486;ENST00000459955;ENST00000481543	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T;T;T	0.94931	-3.25;-3.25;-3.25;-3.32;-3.25;-3.25;-3.25;-3.25;-3.25;-3.28;-3.56;-3.25;-3.25;-3.07;0.92;0.9;0.9	6.16	6.16	0.99307	.	0.043249	0.85682	D	0.000000	D	0.90714	0.7086	N	0.24115	0.695	0.80722	D	1	B;P;B	0.37330	0.078;0.59;0.247	B;B;B	0.37304	0.046;0.246;0.053	D	0.87972	0.2737	10	0.21014	T	0.42	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	9;37;32	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	N	9;9;37;32;9;9;9;9;9;9;9;9;9;9;9;9;9;9	ENSP00000355225:D9N;ENSP00000355907:D9N;ENSP00000355904:D37N;ENSP00000386171:D32N;ENSP00000352077:D9N;ENSP00000354584:D9N;ENSP00000355905:D9N;ENSP00000353108:D9N;ENSP00000419594:D9N;ENSP00000375761:D9N;ENSP00000418629:D9N;ENSP00000419155:D9N;ENSP00000417374:D9N;ENSP00000419514:D9N;ENSP00000417900:D9N;ENSP00000420370:D9N;ENSP00000418895:D9N	ENSP00000346386:D9N	D	-	1	0	ESRRG	214917419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.992000	0.56980	2.937000	0.99478	0.650000	0.86243	GAT	ESRRG	-	NULL	ENSG00000196482		0.517	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	-	0	46	0	C	NM_206595		216850796	-1	tier1	-	no_errors	ENST00000408911	ensembl	human	known	74_37	missense	60.87	18	28	SNP	1.000	T	T	216850796	C	T	216850796	3	4	159	1	0	0	0	0	1	0	0	0	5278	826	29	3	1306	3	ESRRG	1	216850796	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	4609207	216850796	32399825	25	40303											
HLX	3142	genome.wustl.edu	37	chr1	221057561	221057561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aggtgtggttccagaaccggCggatgaagtggcggcactcc	8	7	16	10	3	0	2	0	1	0	1	2	3	2	3	3	6	1	2	3	6	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:221057561C>T	ENST00000366903.6	+	4	2483	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	HLX_ENST00000549319.1_Missense_Mutation_p.R114W	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	328					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CCAGAACCGGCGGATGAAGTG	0.637																																																	0													37	42	41					1																	221057561		2201	4297	6498	SO:0001583	missense	0			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.982C>T	1.37:g.221057561C>T	ENSP00000355870:p.Arg328Trp		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.R328W	ENST00000366903.6	37	c.982	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191297	0.78902	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;D;D	0.99311	-5.51;-5.73;-5.51	4.89	-1.45	0.08828	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.111005	0.36374	N	0.002634	D	0.99542	0.9836	H	0.97103	3.94	0.48632	D	0.999685	D	0.89917	1.0	D	0.97110	1.0	D	0.99278	1.0895	10	0.87932	D	0	-26.9734	15.1971	0.73100	0.6342:0.3658:0.0:0.0	.	328	Q14774	HLX_HUMAN	W	328;61;114	ENSP00000355870:R328W;ENSP00000408248:R61W;ENSP00000449882:R114W	ENSP00000355870:R328W	R	+	1	2	HLX	219124184	0.241000	0.23857	0.988000	0.46212	0.982000	0.71751	0.635000	0.24629	-0.105000	0.12132	-0.320000	0.08662	CGG	HLX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	ENSG00000136630		0.637	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	-	0	35	0	C	NM_021958		221057561	1	tier1	-	no_errors	ENST00000366903	ensembl	human	known	74_37	missense	50.00	15	15	SNP	1.000	T	T	221057561	C	T	221057561	3	4	159	1	0	0	0	0	1	0	0	0	7243	759	27	1	996	1	HLX	1	221057561	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	4206765	221057561	28193060	26	40304											
OBSCN	84033	genome.wustl.edu	37	chr1	228476026	228476026	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctcactcaccatcaggcGtaagaccgtgtatccagagc	11	7	9	14	2	3	2	3	0	0	2	4	2	4	2	4	1	2	2	4	1	2	2	rs111643598		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:228476026G>A	ENST00000422127.1	+	37	10119		c.e37+1		OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000359599.6_Splice_Site|OBSCN_ENST00000570156.2_Splice_Site	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)				ACCATCAGGCGTAAGACCGTG	0.567													G|||	1	0.000199681	0	0	5008	,	,		20802	0		0	False		,,,				2504	0.001																0													70	73	72					1																	228476026		2141	4248	6389	SO:0001630	splice_region_variant	0			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.10075+1G>A	1.37:g.228476026G>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	-	e36+1	ENST00000422127.1	37	c.10075+1	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228341	0.39399	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2697	0.90064	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OBSCN	226542649	1.000000	0.71417	0.999000	0.59377	0.047000	0.14425	8.914000	0.92735	2.571000	0.86741	0.561000	0.74099	.	OBSCN	-	-	ENSG00000154358		0.567	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	42	0	G	NM_052843	Intron	228476026	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	splice_site	65.71	12	23	SNP	1.000	A	A	228476026	G	A	228476026	5	1	159	1	0	0	0	0	0	0	1	0	10851	1159	40	1	10218	1	OBSCN	1	228476026	Splice_Site	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	7418465	228476026	20774595	27	40305											
C1orf96	126731	genome.wustl.edu	37	chr1	229462666	229462666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaggcacttggttgctgtCgaggctcagtactggtgggt	7	12	15	7	1	1	0	1	0	0	0	2	1	1	0	0	5	2	5	0	5	2	4	rs140506323		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:229462666C>T	ENST00000366687.1	-	2	506	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	CCSAP_ENST00000366686.1_Missense_Mutation_p.R38Q|CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000284617.2_Missense_Mutation_p.R152Q			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	152					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)		p.R152Q(1)									TGGTTGCTGTCGAGGCTCAGT	0.418																																																	1	Substitution - Missense(1)	endometrium(1)						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	304	301	302		455	1.1	0	1	dbSNP_134	302	0,8600		0,0,4300	no	missense	C1orf96	NM_145257.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	152/271	229462666	1,13005	2203	4300	6503	SO:0001583	missense	0			BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"centriole and spindle-associated protein"		"chromosome 1 open reading frame 96"	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.455G>A	1.37:g.229462666C>T	ENSP00000355648:p.Arg152Gln		A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Missense_Mutation	SNP	NULL	p.R152Q	ENST00000366687.1	37	c.455	CCDS1577.1	1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.485734	0.26686	2.27E-4	0.0	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000366686	T;T;T	0.46451	0.93;0.93;0.87	5.7	1.15	0.20763	.	0.713556	0.13921	N	0.353564	T	0.25938	0.0632	L	0.33485	1.01	0.09310	N	0.999999	B	0.27971	0.196	B	0.17722	0.019	T	0.13845	-1.0494	10	0.21014	T	0.42	-12.2896	8.0729	0.30699	0.0:0.5931:0.2512:0.1557	.	152	Q6IQ19	CA096_HUMAN	Q	152;152;38	ENSP00000355648:R152Q;ENSP00000284617:R152Q;ENSP00000355647:R38Q	ENSP00000284617:R152Q	R	-	2	0	C1orf96	227529289	0.075000	0.21258	0.002000	0.10522	0.006000	0.05464	0.200000	0.17257	0.679000	0.31345	-0.140000	0.14226	CGA	CCSAP	-	NULL	ENSG00000154429		0.418	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSAP	HGNC	protein_coding	OTTHUMT00000091839.1	-	0	111	0	C	NM_145257		229462666	-1	tier1	rs140506323	no_errors	ENST00000284617	ensembl	human	known	74_37	missense	7.38	113	9	SNP	0.000	T	T	229462666	C	T	229462666	3	4	159	1	0	0	0	0	1	0	0	0	2080	884	31	1	365	1	C1orf96	1	229462666	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	986640	229462666	19787955	28	40306											
IRF2BP2	359948	genome.wustl.edu	37	chr1	234744343	234744344	+	Frame_Shift_Ins	INS	-	-	GA																															cgcacggtcttgggcctgttINSgacccagtcctgctctccag																								rs146468937		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:234744343_234744344insGA	ENST00000366609.3	-	1	927_928	c.897_898insTC	c.(895-900)gtcaacfs	p.N300fs	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Frame_Shift_Ins_p.N300fs	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	300					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)			TTGGGCCTGTTGACCCAGTCCT	0.718																																																	0																																										SO:0001589	frameshift_variant	0			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.896_897dupTC	1.37:g.234744344_234744345dupGA	ENSP00000355568:p.Asn300fs		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Frame_Shift_Ins	INS	pfam_Interferon_reg_fac2-bd1_2_Znf	p.N299fs	ENST00000366609.3	37	c.898_897	CCDS1602.1	1																																																																																			IRF2BP2	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000168264		0.718	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	IRF2BP2	HGNC	protein_coding	OTTHUMT00000092705.1		0	20	0	-	NM_182972		234744344	-1	tier1		no_errors	ENST00000366609	ensembl	human	novel	74_37	frame_shift_ins	31.58	13	6	INS	0.944:0.981	GA	GA	234744344	-	GA	234744343	7	5	159	1	0	1	1	0	0	0	0	0	7857	1812	63	0	873	0	IRF2BP2	1	234744343	Frame_Shift_Ins	INS	-	TCGA-V5-AASW-01A-11D-A403-09	5281677	234744343	14506278	29	40307											
ACTN2	88	genome.wustl.edu	37	chr1	236906269	236906269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgctcaatgagattcGgagactggagcgcttggaac	9	10	15	7	2	1	2	1	1	0	2	2	6	1	4	0	4	3	3	0	4	2	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr1:236906269G>A	ENST00000366578.4	+	11	1347	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R394Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	394					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AATGAGATTCGGAGACTGGAG	0.547																																																	0													115	110	112					1																	236906269		2203	4300	6503	SO:0001583	missense	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1181G>A	1.37:g.236906269G>A	ENSP00000355537:p.Arg394Gln		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R394Q	ENST00000366578.4	37	c.1181	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511040	0.85389	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.54866	0.55;0.55	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	L	0.55017	1.72	0.80722	D	1	D;P;D;D	0.89917	1.0;0.635;1.0;0.988	D;B;D;P	0.81914	0.995;0.046;0.995;0.867	T	0.67329	-0.5698	10	0.46703	T	0.11	.	20.0345	0.97552	0.0:0.0:1.0:0.0	.	179;394;164;394	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	Q	394;394;163	ENSP00000443495:R394Q;ENSP00000355537:R394Q	ENSP00000355537:R394Q	R	+	2	0	ACTN2	234972892	1.000000	0.71417	0.992000	0.48379	0.929000	0.56500	9.860000	0.99555	2.797000	0.96272	0.655000	0.94253	CGG	ACTN2	-	NULL	ENSG00000077522		0.547	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	-	0	31	0	G	NM_001103		236906269	1	tier1	-	no_errors	ENST00000366578	ensembl	human	known	74_37	missense	39.13	14	9	SNP	1.000	A	A	236906269	G	A	236906269	3	1	159	1	0	0	0	0	1	0	0	0	205	1116	39	1	1223	1	ACTN2	1	236906269	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	2161926	236906269	12344352	30	40308											
FAM82A1	151393	genome.wustl.edu	37	chr2	38201273	38201273	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggaattaaatttagatgtCcttcttcagaaggtagatca	14	13	9	5	0	3	3	2	0	1	3	4	5	4	4	1	2	0	1	1	2	6	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr2:38201273C>T	ENST00000406384.1	+	3	737	c.543C>T	c.(541-543)gtC>gtT	p.V181V	RMDN2_ENST00000417700.2_Silent_p.V36V|RMDN2_ENST00000354545.2_Silent_p.V181V|RMDN2_ENST00000234195.3_Silent_p.V359V|RMDN2_ENST00000407257.1_Silent_p.V359V|RMDN2-AS1_ENST00000414365.2_RNA	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	181						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											ATTTAGATGTCCTTCTTCAGA	0.383																																																	0													139	137	137					2																	38201273		2203	4300	6503	SO:0001819	synonymous_variant	0			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.543C>T	2.37:g.38201273C>T			A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Silent	SNP	NULL	p.V359	ENST00000406384.1	37	c.1077	CCDS54351.1	2																																																																																			RMDN2	-	NULL	ENSG00000115841		0.383	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RMDN2	HGNC	protein_coding	OTTHUMT00000325577.1	-	0	55	0	C	NM_144713		38201273	1	tier1	-	no_errors	ENST00000234195	ensembl	human	known	74_37	silent	12.20	72	10	SNP	0.093	T	T	38201273	C	T	38201273	2	4	159	1	0	0	0	0	0	0	0	1	5652	842	30	3		3	FAM82A1	2	38201273	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		38201273	204998100	31	40309											
BCL11A	53335	genome.wustl.edu	37	chr2	60688816	60688816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctgggtgcacgcgtggtCgcacaggttgcacttgtagg	5	9	17	10	3	0	0	0	0	0	0	1	0	0	0	1	5	2	5	1	5	1	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr2:60688816C>T	ENST00000335712.6	-	4	1458	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	BCL11A_ENST00000538214.1_Missense_Mutation_p.D377N|BCL11A_ENST00000358510.4_Missense_Mutation_p.D377N|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.D411N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.D80N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	411					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CACGCGTGGTCGCACAGGTTG	0.602			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													98	92	94					2																	60688816		2203	4300	6503	SO:0001583	missense	0			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1231G>A	2.37:g.60688816C>T	ENSP00000338774:p.Asp411Asn		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D411N	ENST00000335712.6	37	c.1231	CCDS1862.1	2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919339	0.33908	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.28666	3.2;3.2;2.42;1.6;1.6	5.27	5.27	0.74061	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	0.20981	0.0505	N	0.16862	0.45	0.80722	D	1	B;P;B;B;P	0.42483	0.209;0.781;0.036;0.249;0.582	B;B;B;B;B	0.35413	0.202;0.058;0.01;0.201;0.13	T	0.03608	-1.1020	10	0.40728	T	0.16	-2.5374	18.9015	0.92444	0.0:1.0:0.0:0.0	.	377;80;377;411;411	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	N	411;447;377;80;411;377	ENSP00000349300:D411N;ENSP00000438303:D377N;ENSP00000443712:D80N;ENSP00000338774:D411N;ENSP00000351307:D377N	ENSP00000338774:D411N	D	-	1	0	BCL11A	60542320	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.079000	0.71291	2.461000	0.83175	0.655000	0.94253	GAC	BCL11A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000119866		0.602	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	-	0	18	0	C	NM_022893		60688816	-1	tier1	-	no_errors	ENST00000335712	ensembl	human	known	74_37	missense	61.11	7	11	SNP	1.000	T	T	60688816	C	T	60688816	3	4	159	1	0	0	0	0	1	0	0	0	1364	884	31	1	1386	1	BCL11A	2	60688816	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	22487543	60688816	182510557	32	40310											
AFF3	3899	genome.wustl.edu	37	chr2	100623713	100623713	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgctggtgtggaagttgtAgtgctacagatagacgaggg	9	10	17	5	1	0	2	0	0	0	2	0	4	0	3	0	3	3	5	0	3	4	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr2:100623713A>G	ENST00000409236.2	-	4	496	c.384T>C	c.(382-384)acT>acC	p.T128T	AFF3_ENST00000356421.2_Silent_p.T153T|AFF3_ENST00000317233.4_Silent_p.T128T|AFF3_ENST00000409579.1_Silent_p.T153T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	128					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						TGGAAGTTGTAGTGCTACAGA	0.547																																																	0													118	127	124					2																	100623713		2203	4300	6503	SO:0001819	synonymous_variant	0			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.384T>C	2.37:g.100623713A>G			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	pfam_TF_AF4/FMR2	p.T153	ENST00000409236.2	37	c.459	CCDS42723.1	2																																																																																			AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.547	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	-	0	55	0	A	NM_002285		100623713	-1	tier1	-	no_errors	ENST00000356421	ensembl	human	known	74_37	silent	21.95	32	9	SNP	0.005	G	G	100623713	A	G	100623713	2	3	159	1	0	0	0	0	0	0	0	1	358	407	15	4		4	AFF3	2	100623713	Silent	SNP	A	TCGA-V5-AASW-01A-11D-A403-09	39934897	100623713	142575660	33	40311											
UXS1	80146	genome.wustl.edu	37	chr2	106710608	106710608	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttaaaccttcctccagCgggacctgtttaaagggaaa	11	12	9	9	1	0	0	0	0	0	0	2	2	2	2	4	2	2	2	4	2	5	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr2:106710608C>T	ENST00000409501.3	-	15	1194	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	UXS1_ENST00000540130.1_Silent_p.P322P|UXS1_ENST00000409032.1_Silent_p.P211P|UXS1_ENST00000283148.7_Silent_p.P384P			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	379					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTTCCTCCAGCGGGACCTGTT	0.478																																																	0													146	140	142					2																	106710608		1951	4137	6088	SO:0001819	synonymous_variant	0			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1137G>A	2.37:g.106710608C>T			Q8NBX3|Q9H5C2	Silent	SNP	pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase	p.P384	ENST00000409501.3	37	c.1152	CCDS46378.1	2																																																																																			UXS1	-	NULL	ENSG00000115652		0.478	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	UXS1	HGNC	protein_coding	OTTHUMT00000329778.1	-	0	23	0	C	NM_025076.3		106710608	-1	tier1	-	no_errors	ENST00000283148	ensembl	human	known	74_37	silent	19.05	17	4	SNP	0.001	T	T	106710608	C	T	106710608	2	4	159	1	0	0	0	0	0	0	0	1	17158	755	27	1		1	UXS1	2	106710608	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	6086895	106710608	136488765	34	40312											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125204490	125204490	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcaccaagggcgagacGgatgccttagacattgacta	11	8	11	11	3	0	3	0	1	0	2	1	5	1	4	3	2	1	1	3	2	3	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr2:125204490G>A	ENST00000431078.1	+	6	1258	c.894G>A	c.(892-894)acG>acA	p.T298T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	298	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGGCGAGACGGATGCCTTAG	0.557																																																	0													106	111	109					2																	125204490		2170	4274	6444	SO:0001819	synonymous_variant	0			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.894G>A	2.37:g.125204490G>A			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T298	ENST00000431078.1	37	c.894	CCDS46401.1	2																																																																																			CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.557	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	22	0	G			125204490	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.003	A	A	125204490	G	A	125204490	2	1	159	1	0	0	0	0	0	0	0	1	3657	1103	39	1		1	CNTNAP5	2	125204490	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	18493882	125204490	117994883	35	40313											
MBD5	55777	genome.wustl.edu	37	chr2	149247654	149247654	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccaatactgttaccaccaAgaaactgtccaggggataaa	16	7	7	11	0	0	1	0	0	0	1	1	2	1	2	4	2	3	1	4	2	7	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr2:149247654A>C	ENST00000407073.1	+	12	4751	c.3754A>C	c.(3754-3756)Aga>Cga	p.R1252R	MBD5_ENST00000404807.1_Silent_p.R1485R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1252					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)		GTTACCACCAAGAAACTGTCC	0.423																																																	0													67	68	68					2																	149247654		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3754A>C	2.37:g.149247654A>C			A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom	p.R1252	ENST00000407073.1	37	c.3754	CCDS33302.1	2																																																																																			MBD5	-	NULL	ENSG00000204406		0.423	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	-	0	46	0	A			149247654	1	tier1	-	no_errors	ENST00000407073	ensembl	human	known	74_37	silent	25.86	43	15	SNP	0.999	C	C	149247654	A	C	149247654	2	2	159	1	0	0	0	0	0	0	0	1	9385	64	3	4		4	MBD5	2	149247654	Silent	SNP	A	TCGA-V5-AASW-01A-11D-A403-09	24043164	149247654	93951719	36	40314											
KIAA1715	80856	genome.wustl.edu	37	chr2	176802211	176802211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtctggtttttcttgcaggGttcaagaaaaaacagtaggc	11	12	12	6	0	3	1	1	0	2	1	3	1	3	1	0	4	2	4	0	4	5	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr2:176802211G>T	ENST00000272748.4	-	12	1162	c.915C>A	c.(913-915)aaC>aaA	p.N305K	KIAA1715_ENST00000535310.1_Missense_Mutation_p.N230K|KIAA1715_ENST00000544803.1_Missense_Mutation_p.N336K	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	305					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTCTTGCAGGGTTCAAGAAAA	0.403																																																	0													53	53	53					2																	176802211		2203	4300	6503	SO:0001583	missense	0			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.915C>A	2.37:g.176802211G>T	ENSP00000272748:p.Asn305Lys		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	pfam_DUF2296	p.N336K	ENST00000272748.4	37	c.1008	CCDS33332.1	2	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211941	0.39102	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.61	1.84	0.25277	Domain of unknown function DUF2296 (1);	0.000000	0.85682	D	0.000000	T	0.81833	0.4906	H	0.94503	3.545	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	T	0.82615	-0.0370	9	0.87932	D	0	-13.6635	9.4424	0.38677	0.7155:0.0:0.2845:0.0	.	307;336;302;305	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	K	305;307;182;336;230	.	ENSP00000272748:N305K	N	-	3	2	KIAA1715	176510457	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	2.385000	0.44371	0.395000	0.25257	-0.469000	0.05056	AAC	KIAA1715	-	pfam_DUF2296	ENSG00000144320		0.403	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1715	HGNC	protein_coding	OTTHUMT00000333949.3	-	0	68	0	G	XM_042834		176802211	-1	tier1	-	no_errors	ENST00000544803	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	176802211	G	T	176802211	3	4	159	1	0	0	0	0	1	0	0	0	8281	1252	44	3	379	3	KIAA1715	2	176802211	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	27554557	176802211	66397162	37	40315											
TTN	7273	genome.wustl.edu	37	chr2	179658218	179658218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttccttggctttatcGgcggccactactaccttagt	5	16	8	12	2	1	0	0	0	1	0	3	0	2	0	3	3	2	2	3	3	4	8	rs141617218		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr2:179658218G>A	ENST00000591111.1	-	9	1673	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	TTN_ENST00000342175.6_Silent_p.A483A|TTN_ENST00000359218.5_Silent_p.A483A|TTN_ENST00000589042.1_Silent_p.A483A|TTN_ENST00000342992.6_Silent_p.A483A|TTN_ENST00000460472.2_Silent_p.A483A|TTN_ENST00000360870.5_Silent_p.A483A			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCTTTATCGGCGGCCACTA	0.398																																																	0								G	,,,,	0,4406		0,0,2203	268	265	266		1449,1449,1449,1449,1449	0.1	1	2	dbSNP_134	266	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,,,,	483/26927,483/33424,483/5605,483/27052,483/27119	179658218	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1449C>T	2.37:g.179658218G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A483	ENST00000591111.1	37	c.1449		2																																																																																			TTN	-	pfam_Titin_Z,superfamily_RNaseH-like_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	32	0	G	NM_133378		179658218	-1	tier1	rs141617218	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	59.62	21	31	SNP	0.997	A	A	179658218	G	A	179658218	2	1	159	1	0	0	0	0	0	0	0	1	16784	1103	39	1		1	TTN	2	179658218	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	2856007	179658218	63541155	38	40316											
PLCL1	5334	genome.wustl.edu	37	chr2	198950849	198950849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagaatggggaagaaagttCgggaatataccatgctcagg	14	8	14	5	1	1	2	1	1	0	2	2	5	1	4	1	4	2	2	1	4	6	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr2:198950849C>T	ENST00000428675.1	+	2	3006	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	PLCL1_ENST00000437704.2_Missense_Mutation_p.R772W	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	870					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAGAAAGTTCGGGAATATAC	0.418																																																	0													94	80	85					2																	198950849		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2608C>T	2.37:g.198950849C>T	ENSP00000402861:p.Arg870Trp		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R870W	ENST00000428675.1	37	c.2608	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580704	0.46006	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.20598	2.06;2.09	5.41	4.47	0.54385	.	0.000000	0.56097	D	0.000023	T	0.44891	0.1315	M	0.83953	2.67	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.65140	0.932;0.932	T	0.39251	-0.9623	9	.	.	.	.	11.384	0.49773	0.3442:0.6558:0.0:0.0	.	870;796	Q15111;B4DYZ4	PLCL1_HUMAN;.	W	870;772	ENSP00000402861:R870W;ENSP00000414138:R772W	.	R	+	1	2	PLCL1	198659094	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.613000	0.46351	2.814000	0.96858	0.591000	0.81541	CGG	PLCL1	-	NULL	ENSG00000115896		0.418	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1		0	29	0	C	NM_006226		198950849	1			no_errors	ENST00000428675	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	198950849	C	T	198950849	3	4	159	1	0	0	0	0	1	0	0	0	12078	875	31	1	2614	1	PLCL1	2	198950849	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	19292631	198950849	44248524	39	40317											
SPHKAP	80309	genome.wustl.edu	37	chr2	228883332	228883332	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctggcagcttggttctgtCtccctccttctgatggtctc	2	15	11	13	0	4	1	0	1	4	0	7	1	5	1	2	4	1	4	2	4	0	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr2:228883332C>T	ENST00000392056.3	-	7	2284	c.2238G>A	c.(2236-2238)gaG>gaA	p.E746E	SPHKAP_ENST00000344657.5_Silent_p.E746E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	746						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)		TTGGTTCTGTCTCCCTCCTTC	0.473																																																	0													145	139	141					2																	228883332		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2238G>A	2.37:g.228883332C>T			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.E746	ENST00000392056.3	37	c.2238	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0	22	0	C	NM_030623		228883332	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.000	T	T	228883332	C	T	228883332	2	4	159	1	0	0	0	0	0	0	0	1	15095	912	32	3		3	SPHKAP	2	228883332	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	29932483	228883332	14316041	40	40318											
GPR35	2859	genome.wustl.edu	37	chr2	241569885	241569885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggcacaatttcaactcCatggcgttcccgctgctggg	7	9	10	15	3	1	0	1	0	0	0	3	0	3	0	3	3	2	4	3	3	2	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr2:241569885C>T	ENST00000319838.5	+	6	1458	c.516C>T	c.(514-516)tcC>tcT	p.S172S	GPR35_ENST00000438013.2_Silent_p.S203S|GPR35_ENST00000403859.1_Silent_p.S172S|GPR35_ENST00000407714.1_Silent_p.S172S|GPR35_ENST00000430267.1_Silent_p.S172S	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	172					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)		ATTTCAACTCCATGGCGTTCC	0.652																																																	0													39	44	42					2																	241569885		2181	4270	6451	SO:0001819	synonymous_variant	0				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.516C>T	2.37:g.241569885C>T			J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S203	ENST00000319838.5	37	c.609	CCDS2541.1	2																																																																																			GPR35	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000178623		0.652	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPR35	HGNC	protein_coding	OTTHUMT00000325631.1	-	0	41	0	C	NM_001195382		241569885	1	tier1	-	no_errors	ENST00000438013	ensembl	human	known	74_37	silent	20.00	28	7	SNP	0.000	T	T	241569885	C	T	241569885	2	4	159	1	0	0	0	0	0	0	0	1	6716	581	21	3		3	GPR35	2	241569885	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	12686553	241569885	1629488	41	40319											
THAP4	51078	genome.wustl.edu	37	chr2	242573179	242573179	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttggccatcgggtttccactCgaggacggtgaccaacctgc	7	9	12	13	3	0	1	0	1	0	0	3	3	1	2	4	4	2	1	4	4	1	2	rs191058185		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr2:242573179C>G	ENST00000407315.1	-	2	824	c.393G>C	c.(391-393)tcG>tcC	p.S131S		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	131							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)		GGTTTCCACTCGAGGACGGTG	0.662																																																	0													59	59	59					2																	242573179		2203	4296	6499	SO:0001819	synonymous_variant	0			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.393G>C	2.37:g.242573179C>G			Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.S131	ENST00000407315.1	37	c.393	CCDS2551.1	2																																																																																			THAP4	-	NULL	ENSG00000176946		0.662	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	HGNC	protein_coding	OTTHUMT00000257267.3	-	0	34	0	C	NM_015963		242573179	-1	tier1	-	no_errors	ENST00000407315	ensembl	human	known	74_37	silent	16.28	36	7	SNP	0.000	G	G	242573179	C	G	242573179	2	3	159	1	0	0	0	0	0	0	0	1	15893	871	31	5		5	THAP4	2	242573179	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	1003294	242573179	626194	42	40320											
NR1D2	9975	genome.wustl.edu	37	chr3	24003473	24003473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttttcttcaatagctgttCggtttggtcgtattcctaag	6	19	8	8	2	2	0	1	0	1	0	5	0	3	0	1	2	1	4	1	2	4	9			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:24003473C>T	ENST00000312521.4	+	5	842	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	175	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AATAGCTGTTCGGTTTGGTCG	0.353																																																	0													58	55	56					3																	24003473		2203	4300	6503	SO:0001583	missense	0			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"Nuclear hormone receptors"	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.523C>T	3.37:g.24003473C>T	ENSP00000310006:p.Arg175Trp		B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R175W	ENST00000312521.4	37	c.523	CCDS33718.1	3	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483836	0.63962	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.96619	-4.07	5.84	3.98	0.46160	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (1);	0.053328	0.64402	D	0.000001	D	0.97561	0.9201	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97637	1.0146	10	0.87932	D	0	.	14.8386	0.70206	0.2808:0.7192:0.0:0.0	.	175	Q14995	NR1D2_HUMAN	W	175	ENSP00000310006:R175W	ENSP00000310006:R175W	R	+	1	2	NR1D2	23978477	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.859000	0.48364	0.733000	0.32492	-0.181000	0.13052	CGG	NR1D2	-	pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	ENSG00000174738		0.353	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	HGNC	protein_coding	OTTHUMT00000341017.3	-	0	68	0	C			24003473	1	tier1	-	no_errors	ENST00000312521	ensembl	human	known	74_37	missense	38.89	33	21	SNP	1.000	T	T	24003473	C	T	24003473	3	4	159	1	0	0	0	0	1	0	0	0	10655	875	31	1	541	1	NR1D2	3	24003473	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		24003473	174018957	43	40321											
C3orf63	23272	genome.wustl.edu	37	chr3	56681036	56681036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctaatcgtgaatcatatgGaaacataataaactctcgtt	16	13	5	7	2	3	1	1	1	2	0	5	2	3	2	0	1	2	1	0	1	7	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:56681036G>A	ENST00000493960.2	-	14	1739	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S	FAM208A_ENST00000355628.5_Missense_Mutation_p.P577S|FAM208A_ENST00000431842.2_Missense_Mutation_p.P181S	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	577							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						GAATCATATGGAAACATAATA	0.313																																																	0													37	40	39					3																	56681036		2198	4296	6494	SO:0001583	missense	0			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.1729C>T	3.37:g.56681036G>A	ENSP00000417509:p.Pro577Ser		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.P577S	ENST00000493960.2	37	c.1729	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336442	0.24253	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.11930	2.73;2.93;2.93	5.38	2.44	0.29823	.	0.223531	0.32106	N	0.006577	T	0.08582	0.0213	N	0.22421	0.69	0.28480	N	0.915008	B;B;B	0.15141	0.012;0.001;0.002	B;B;B	0.14023	0.01;0.002;0.002	T	0.20371	-1.0277	10	0.38643	T	0.18	-0.9963	7.8837	0.29637	0.1336:0.3528:0.5136:0.0	.	577;577;181	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	S	181;577;577	ENSP00000399410:P181S;ENSP00000417509:P577S;ENSP00000347845:P577S	ENSP00000347845:P577S	P	-	1	0	C3orf63	56656076	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.203000	0.42752	0.312000	0.23038	0.655000	0.94253	CCA	FAM208A	-	NULL	ENSG00000163946		0.313	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	-	0	141	0	G	NM_015224		56681036	-1	tier1	-	no_errors	ENST00000355628	ensembl	human	known	74_37	missense	25.53	70	24	SNP	0.927	A	A	56681036	G	A	56681036	3	1	159	1	0	0	0	0	1	0	0	0	2246	1174	41	3	3387	3	C3orf63	3	56681036	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	32677563	56681036	141341394	44	40322											
C3orf67	200844	genome.wustl.edu	37	chr3	58792173	58792173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgatagtggcgaccctGgttgacaggctggaaaagac	10	10	13	8	1	1	3	0	2	1	1	1	5	1	4	1	4	0	2	1	4	3	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:58792173G>T	ENST00000482387.1	-	11	1906	c.1810C>A	c.(1810-1812)Cag>Aag	p.Q604K	C3orf67_ENST00000295966.7_Missense_Mutation_p.Q478K			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	604										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)		TGGCGACCCTGGTTGACAGGC	0.363																																																	0													119	119	119					3																	58792173		2203	4300	6503	SO:0001583	missense	0			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.1810C>A	3.37:g.58792173G>T	ENSP00000417122:p.Gln604Lys		B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.Q604K	ENST00000482387.1	37	c.1810		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.124820|4.124820	0.77436|0.77436	.|.	.|.	ENSG00000163689|ENSG00000163689	ENST00000486145|ENST00000295966;ENST00000482387	.|T;T	.|0.20332	.|2.15;2.08	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40015|0.40015	0.1100|0.1100	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|P;D	.|0.67145	.|0.867;0.996	.|B;D	.|0.79784	.|0.367;0.993	T|T	0.02721|0.02721	-1.1119|-1.1119	5|10	.|0.19590	.|T	.|0.45	-7.0508|-7.0508	16.1607|16.1607	0.81704|0.81704	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|478;604	.|Q6ZVT6-2;Q6ZVT6	.|.;CC067_HUMAN	Q|K	17|478;604	.|ENSP00000295966:Q478K;ENSP00000417122:Q604K	.|ENSP00000295966:Q478K	P|Q	-|-	2|1	0|0	C3orf67|C3orf67	58767213|58767213	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.401000|5.401000	0.66326|0.66326	2.677000|2.677000	0.91161|0.91161	0.591000|0.591000	0.81541|0.81541	CCA|CAG	C3orf67	-	NULL	ENSG00000163689		0.363	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	HGNC	protein_coding	OTTHUMT00000353803.1	-	0	75	0	G	NM_198463		58792173	-1	tier1	-	no_errors	ENST00000482387	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	58792173	G	T	58792173	3	4	159	1	0	0	0	0	1	0	0	0	2248	1357	47	3	271	3	C3orf67	3	58792173	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	2111137	58792173	139230257	45	40323											
CADPS	8618	genome.wustl.edu	37	chr3	62499335	62499335	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggttaaatccatcacttgGgaggccaagcagaagacagg	14	7	12	8	0	1	2	1	0	0	2	2	3	2	3	2	4	1	2	2	4	4	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:62499335G>T	ENST00000383710.4	-	17	2931				CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Silent_p.S876S	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						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)		CCATCACTTGGGAGGCCAAGC	0.423																																																	0													126	99	108					3																	62499335		2203	4299	6502	SO:0001627	intron_variant	0			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.2582-892C>A	3.37:g.62499335G>T			A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S876	ENST00000383710.4	37	c.2628	CCDS46858.1	3																																																																																			CADPS	-	pfam_Ca-dep_secretion_activator	ENSG00000163618		0.423	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	-	0	48	0	G	NM_003716, NM_183393, NM_183394		62499335	-1	tier1	-	no_errors	ENST00000283269	ensembl	human	known	74_37	silent	17.39	19	4	SNP	1.000	T	T	62499335	G	T	62499335	1	4	159	0	1	0	0	0	0	0	0	0	2577	1219	43	3		3	CADPS	3	62499335	Intron	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	3707162	62499335	135523095	46	40324											
FAM55C	91775	genome.wustl.edu	37	chr3	101520401	101520401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaagaaagcccaagaagtAtggtggagactacctgcagg	15	6	12	8	0	1	3	1	0	0	3	1	4	1	3	2	3	3	2	2	3	6	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:101520401A>G	ENST00000491511.2	+	5	1372	c.416A>G	c.(415-417)tAt>tGt	p.Y139C	NXPE3_ENST00000273347.5_Missense_Mutation_p.Y139C|NXPE3_ENST00000477909.1_Missense_Mutation_p.Y139C|NXPE3_ENST00000422132.1_Missense_Mutation_p.Y139C	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	139						extracellular region (GO:0005576)											CCCAAGAAGTATGGTGGAGAC	0.502																																																	0													87	89	88					3																	101520401		2203	4300	6503	SO:0001583	missense	0			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.416A>G	3.37:g.101520401A>G	ENSP00000417485:p.Tyr139Cys		A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.Y139C	ENST00000491511.2	37	c.416	CCDS2945.1	3	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313276	0.60414	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.97	4.82	0.62117	Immunoglobulin E-set (1);	0.158965	0.64402	N	0.000017	T	0.33381	0.0861	M	0.88512	2.96	0.52501	D	0.999959	P	0.35745	0.518	B	0.42653	0.394	T	0.10894	-1.0610	10	0.44086	T	0.13	-14.8278	12.2461	0.54571	0.9339:0.0:0.0661:0.0	.	139	Q969Y0	FA55C_HUMAN	C	139	ENSP00000273347:Y139C;ENSP00000417485:Y139C;ENSP00000418369:Y139C;ENSP00000396421:Y139C	ENSP00000273347:Y139C	Y	+	2	0	FAM55C	103003091	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.444000	0.80532	1.084000	0.41184	-0.264000	0.10439	TAT	NXPE3	-	pfam_NXPH/NXPE,superfamily_Ig_E-set	ENSG00000144815		0.502	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPE3	HGNC	protein_coding	OTTHUMT00000353711.2	-	0	36	0	A	NM_145037		101520401	1	tier1	-	no_errors	ENST00000273347	ensembl	human	known	74_37	missense	38.89	11	7	SNP	1.000	G	G	101520401	A	G	101520401	3	3	159	1	0	0	0	0	1	0	0	0	5608	449	16	4	422	4	FAM55C	3	101520401	Missense_Mutation	SNP	A	TCGA-V5-AASW-01A-11D-A403-09	39021066	101520401	96502029	47	40325											
GATA2	2624	genome.wustl.edu	37	chr3	128199937	128199937	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggaggggtggatgggcgtCggagtgggcaggatgtgtcc	6	7	23	5	2	0	0	0	0	0	0	2	5	1	4	1	8	0	1	1	8	0	0	rs569990126		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:128199937C>T	ENST00000341105.2	-	6	1699	c.1368G>A	c.(1366-1368)ccG>ccA	p.P456P	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.P456P|GATA2_ENST00000430265.2_Silent_p.P442P	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	456					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGATGGGCGTCGGAGTGGGCA	0.667			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													70	65	67					3																	128199937		2203	4299	6502	SO:0001819	synonymous_variant	0			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1368G>A	3.37:g.128199937C>T			D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P456	ENST00000341105.2	37	c.1368	CCDS3049.1	3																																																																																			GATA2	-	pirsf_TF_GATA-1/2/3	ENSG00000179348		0.667	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	HGNC	protein_coding	OTTHUMT00000356925.1	-	0	32	0	C	NM_032638		128199937	-1	tier1	-	no_errors	ENST00000341105	ensembl	human	known	74_37	silent	34.62	17	9	SNP	0.173	T	T	128199937	C	T	128199937	2	4	159	1	0	0	0	0	0	0	0	1	6279	871	31	1		1	GATA2	3	128199937	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	26679536	128199937	69822493	48	40326											
NEK11	79858	genome.wustl.edu	37	chr3	130889732	130889732	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctgaccttggataccatgGtatgtgtttgcattgatttt	8	18	9	6	0	1	2	0	2	1	0	1	3	1	3	2	2	2	3	2	2	2	7	rs148813749		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:130889732G>T	ENST00000510769.1	+	10	1337		c.e10+1		NEK11_ENST00000356918.4_Splice_Site|NEK11_ENST00000429253.2_Splice_Site|NEK11_ENST00000510688.1_Splice_Site|NEK11_ENST00000412440.2_Splice_Site|NEK11_ENST00000383366.4_Splice_Site|NEK11_ENST00000508196.1_Splice_Site|NEK11_ENST00000507910.1_Splice_Site|NEK11_ENST00000511262.1_Splice_Site					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GGATACCATGGTATGTGTTTG	0.498																																																	0													167	146	153					3																	130889732		2203	4300	6503	SO:0001630	splice_region_variant	0			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1084+1G>T	3.37:g.130889732G>T				Splice_Site	SNP	-	e12+1	ENST00000510769.1	37	c.1399+1		3	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849522	0.51270	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8879	0.70584	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEK11	132372422	1.000000	0.71417	0.875000	0.34327	0.107000	0.19398	4.919000	0.63383	2.793000	0.96121	0.561000	0.74099	.	NEK11	-	-	ENSG00000114670		0.498	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NEK11	HGNC	protein_coding	OTTHUMT00000356757.1	-	0	32	0	G	NM_024800	Intron	130889732	1	tier1	-	no_errors	ENST00000383366	ensembl	human	known	74_37	splice_site	12.12	29	4	SNP	0.978	T	T	130889732	G	T	130889732	5	4	159	1	0	0	0	0	0	0	1	0	10362	1275	44	3	1446	3	NEK11	3	130889732	Splice_Site	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	2689795	130889732	67132698	49	40327											
DNAJC13	23317	genome.wustl.edu	37	chr3	132169579	132169579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttgaccaaattaatcCtgcaaccaacagagtactct	14	10	6	11	0	1	2	0	1	1	1	2	2	2	2	3	1	4	3	3	1	5	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:132169579C>T	ENST00000260818.6	+	6	673	c.425C>T	c.(424-426)cCt>cTt	p.P142L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	142					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						CAAATTAATCCTGCAACCAAC	0.368																																																	0													60	63	62					3																	132169579		2203	4298	6501	SO:0001583	missense	0			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.425C>T	3.37:g.132169579C>T	ENSP00000260818:p.Pro142Leu		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.P142L	ENST00000260818.6	37	c.425	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242634	0.79912	.	.	ENSG00000138246	ENST00000260818	T	0.17691	2.26	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	M	0.72118	2.19	0.80722	D	1	B;B	0.30870	0.298;0.005	B;B	0.25291	0.059;0.004	T	0.01863	-1.1258	10	0.40728	T	0.16	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	142;142	A7E2Y5;O75165	.;DJC13_HUMAN	L	142	ENSP00000260818:P142L	ENSP00000260818:P142L	P	+	2	0	DNAJC13	133652269	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.884000	0.69729	2.734000	0.93682	0.655000	0.94253	CCT	DNAJC13	-	NULL	ENSG00000138246		0.368	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	-	0	192	0	C	NM_015268		132169579	1	tier1	-	no_errors	ENST00000260818	ensembl	human	known	74_37	missense	34.11	85	44	SNP	1.000	T	T	132169579	C	T	132169579	3	4	159	1	0	0	0	0	1	0	0	0	4646	681	24	3	443	3	DNAJC13	3	132169579	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	1279847	132169579	65852851	50	40328											
PRR23C	389152	genome.wustl.edu	37	chr3	138763216	138763216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcgcaggaccgacattggcgCgagctccagcaccaggtcga	9	5	13	14	5	0	0	0	0	0	0	3	4	1	1	3	3	2	3	3	3	0	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:138763216C>T	ENST00000413199.1	-	1	518	c.247G>A	c.(247-249)Gcg>Acg	p.A83T	PRR23C_ENST00000502927.2_Missense_Mutation_p.A83T|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	83										breast(2)|lung(7)|skin(2)	11						GACATTGGCGCGAGCTCCAGC	0.682																																																	0													18	23	22					3																	138763216		692	1591	2283	SO:0001583	missense	0				CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.247G>A	3.37:g.138763216C>T	ENSP00000396648:p.Ala83Thr			Missense_Mutation	SNP	pfam_UPF0572	p.A83T	ENST00000413199.1	37	c.247	CCDS46924.1	3	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740625	0.49045	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	3.26	-2.85	0.05734	.	1.580240	0.03848	N	0.271746	T	0.28896	0.0717	L	0.47716	1.5	0.09310	N	1	P	0.45126	0.851	B	0.40256	0.324	T	0.29366	-1.0014	9	0.56958	D	0.05	.	3.5745	0.07929	0.1604:0.2563:0.4745:0.1088	.	83	Q6ZRP0	PR23C_HUMAN	T	83	.	ENSP00000396648:A83T	A	-	1	0	PRR23C	140245906	0.201000	0.23410	0.002000	0.10522	0.013000	0.08279	-0.079000	0.11357	-0.636000	0.05524	0.305000	0.20034	GCG	PRR23C	-	pfam_UPF0572	ENSG00000233701		0.682	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23C	HGNC	protein_coding	OTTHUMT00000361502.1	-	0	22	0	C	NM_001134657		138763216	-1	tier1	-	no_errors	ENST00000413199	ensembl	human	known	74_37	missense	32.35	23	11	SNP	0.002	T	T	138763216	C	T	138763216	3	4	159	1	0	0	0	0	1	0	0	0	12638	768	27	1	545	1	PRR23C	3	138763216	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	6593637	138763216	59259214	51	40329											
RASA2	5922	genome.wustl.edu	37	chr3	141259435	141259435	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagaatggaactgtatgcCagcagcttgttgtacagtaa	12	10	12	7	1	0	1	0	0	0	1	0	3	0	2	1	2	5	6	1	2	5	5	rs371048945		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:141259435C>T	ENST00000452898.1	+	5	546	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	RASA2_ENST00000286364.3_Nonsense_Mutation_p.Q171*	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	171	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AACTGTATGCCAGCAGCTTGT	0.308																																																	0								C	stop/GLN	0,4406		0,0,2203	96	98	97		511	5.9	1	3		97	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	RASA2	NM_006506.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		171/850	141259435	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.511C>T	3.37:g.141259435C>T	ENSP00000391677:p.Gln171*		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Nonsense_Mutation	SNP	pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.Q171*	ENST00000452898.1	37	c.511		3	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875008	0.72180	0.0	1.16E-4	ENSG00000155903	ENST00000286364;ENST00000452898	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1314	0.86727	0.0:1.0:0.0:0.0	.	.	.	.	X	171	.	.	Q	+	1	0	RASA2	142742125	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.775000	0.62346	2.785000	0.95823	0.591000	0.81541	CAG	RASA2	-	superfamily_C2_dom,pfscan_C2_dom	ENSG00000155903		0.308	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		-	0	104	0	C	NM_006506		141259435	1	tier1	-	no_errors	ENST00000452898	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	1.000	T	T	141259435	C	T	141259435	4	4	159	1	0	0	0	0	0	1	0	0	13106	595	21	3	529	3	RASA2	3	141259435	Nonsense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	2496219	141259435	56762995	52	40330											
TNFSF10	8743	genome.wustl.edu	37	chr3	172224587	172224587	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggaatagatgtagtaaaAccctttttcatggatgacca	13	13	9	6	0	1	2	1	1	0	1	1	4	1	4	2	2	1	2	2	2	5	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:172224587A>T	ENST00000241261.2	-	5	663	c.541T>A	c.(541-543)Ttt>Att	p.F181I	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	181					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)			ATGTAGTAAAACCCTTTTTCA	0.388																																																	0													156	154	155					3																	172224587		2203	4300	6503	SO:0001583	missense	0			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.541T>A	3.37:g.172224587A>T	ENSP00000241261:p.Phe181Ile		A1Y9B3	Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom	p.F181I	ENST00000241261.2	37	c.541	CCDS3219.1	3	.	.	.	.	.	.	.	.	.	.	A	9.762	1.170299	0.21621	.	.	ENSG00000121858	ENST00000241261	D	0.94138	-3.36	5.52	0.216	0.15258	Tumour necrosis factor (3);Tumour necrosis factor-like (2);Tumour necrosis factor, conserved site (1);	0.295064	0.39909	N	0.001237	D	0.87908	0.6296	L	0.52126	1.63	0.58432	D	0.999996	B	0.26902	0.163	B	0.22601	0.04	T	0.78127	-0.2325	10	0.51188	T	0.08	-5.6893	5.9986	0.19507	0.5275:0.1308:0.3417:0.0	.	181	P50591	TNF10_HUMAN	I	181	ENSP00000241261:F181I	ENSP00000241261:F181I	F	-	1	0	TNFSF10	173707281	0.028000	0.19301	0.240000	0.24138	0.136000	0.21042	0.286000	0.18902	-0.138000	0.11434	-0.274000	0.10170	TTT	TNFSF10	-	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom	ENSG00000121858		0.388	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF10	HGNC	protein_coding	OTTHUMT00000346601.1	-	0	35	0	A			172224587	-1	tier1	-	no_errors	ENST00000241261	ensembl	human	known	74_37	missense	10.94	57	7	SNP	0.697	T	T	172224587	A	T	172224587	3	4	159	1	0	0	0	0	1	0	0	0	16348	43	2	5	308	5	TNFSF10	3	172224587	Missense_Mutation	SNP	A	TCGA-V5-AASW-01A-11D-A403-09	30965152	172224587	25797843	53	40331											
POLR2H	5437	genome.wustl.edu	37	chr3	184081316	184081316	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgaggatattttcgatgtGaaggatattgacccggaggg	10	13	14	4	2	0	3	0	3	0	0	1	7	0	6	1	4	0	0	1	4	3	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:184081316G>C	ENST00000456318.1	+	2	1085	c.36G>C	c.(34-36)gtG>gtC	p.V12V	POLR2H_ENST00000443489.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000429568.1_Silent_p.V12V|POLR2H_ENST00000452961.1_5'UTR|POLR2H_ENST00000296223.3_Silent_p.V12V|CLCN2_ENST00000434054.2_5'Flank|CLCN2_ENST00000423355.2_5'Flank|POLR2H_ENST00000430783.1_Silent_p.V12V|CLCN2_ENST00000265593.4_5'Flank|CLCN2_ENST00000344937.7_5'Flank|POLR2H_ENST00000438240.1_Intron|CLCN2_ENST00000457512.1_5'Flank	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	12					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 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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTTCGATGTGAAGGATATTG	0.582											OREG0015950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													97	88	91					3																	184081316		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"RNA polymerase subunits"	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.36G>C	3.37:g.184081316G>C		1989	C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Silent	SNP	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8	p.V12	ENST00000456318.1	37	c.36	CCDS3264.1	3																																																																																			POLR2H	-	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8	ENSG00000163882		0.582	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2H	HGNC	protein_coding	OTTHUMT00000345558.1	-	0	53	0	G	NM_006232		184081316	1	tier1	-	no_errors	ENST00000296223	ensembl	human	known	74_37	silent	25.74	75	26	SNP	0.996	C	C	184081316	G	C	184081316	2	2	159	1	0	0	0	0	0	0	0	1	12260	1277	45	5		5	POLR2H	3	184081316	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	11856729	184081316	13941114	54	40332											
POLR2H	5437	genome.wustl.edu	37	chr3	184081340	184081340	+	Silent	SNP	G	G	A																															gatattgacccggagggcaaGaagtttgaccgaggtaagta																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:184081340G>A	ENST00000456318.1	+	2	1109	c.60G>A	c.(58-60)aaG>aaA	p.K20K	POLR2H_ENST00000443489.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000429568.1_Silent_p.K20K|POLR2H_ENST00000452961.1_5'UTR|POLR2H_ENST00000296223.3_Silent_p.K20K|CLCN2_ENST00000434054.2_5'Flank|CLCN2_ENST00000423355.2_5'Flank|POLR2H_ENST00000430783.1_Silent_p.K20K|CLCN2_ENST00000265593.4_5'Flank|CLCN2_ENST00000344937.7_5'Flank|POLR2H_ENST00000438240.1_Intron|CLCN2_ENST00000457512.1_5'Flank	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	20	Non-specific ssDNA binding.				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 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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGGAGGGCAAGAAGTTTGACC	0.592											OREG0015950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90	83	85					3																	184081340		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"RNA polymerase subunits"	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.60G>A	3.37:g.184081340G>A		1989	C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Silent	SNP	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8	p.K20	ENST00000456318.1	37	c.60	CCDS3264.1	3																																																																																			POLR2H	-	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8	ENSG00000163882		0.592	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2H	HGNC	protein_coding	OTTHUMT00000345558.1	-	0	63	0	G	NM_006232		184081340	1	tier1	-	no_errors	ENST00000296223	ensembl	human	known	74_37	silent	29.20	80	33	SNP	1.000	A	A	184081340	G	A	184081340	2	1	159	1	0	0	0	0	0	0	0	1	12260	933	33	3		3	POLR2H	3	184081340	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	24	184081340	13941090	55	40333	143	2									
POLR2H	5437	genome.wustl.edu	37	chr3	184081347	184081347	+	Missense_Mutation	SNP	G	G	A																															acccggagggcaagaagtttGaccgaggtaagtaaggtatg																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:184081347G>A	ENST00000456318.1	+	2	1116	c.67G>A	c.(67-69)Gac>Aac	p.D23N	POLR2H_ENST00000443489.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000429568.1_Missense_Mutation_p.D23N|POLR2H_ENST00000452961.1_5'UTR|POLR2H_ENST00000296223.3_Missense_Mutation_p.D23N|CLCN2_ENST00000434054.2_5'Flank|CLCN2_ENST00000423355.2_5'Flank|POLR2H_ENST00000430783.1_Missense_Mutation_p.D23N|CLCN2_ENST00000265593.4_5'Flank|CLCN2_ENST00000344937.7_5'Flank|POLR2H_ENST00000438240.1_Intron|CLCN2_ENST00000457512.1_5'Flank	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	23	Non-specific ssDNA binding.				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 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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAGAAGTTTGACCGAGGTAA	0.592											OREG0015950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89	83	85					3																	184081347		2203	4300	6503	SO:0001583	missense	0				CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"RNA polymerase subunits"	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.67G>A	3.37:g.184081347G>A	ENSP00000392913:p.Asp23Asn	1989	C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Missense_Mutation	SNP	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8	p.D23N	ENST00000456318.1	37	c.67	CCDS3264.1	3	.	.	.	.	.	.	.	.	.	.	g	36	5.830422	0.96996	.	.	ENSG00000163882	ENST00000456318;ENST00000455712;ENST00000430783;ENST00000296223;ENST00000429568	.	.	.	6.04	5.16	0.70880	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.73430	2.235	0.80722	D	1	P	0.49862	0.929	P	0.56278	0.795	T	0.74438	-0.3665	9	0.51188	T	0.08	-23.6255	13.6081	0.62058	0.0765:0.0:0.9235:0.0	.	23	P52434	RPAB3_HUMAN	N	23	.	ENSP00000296223:D23N	D	+	1	0	POLR2H	185564041	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.221000	0.78016	2.873000	0.98535	0.563000	0.77884	GAC	POLR2H	-	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8	ENSG00000163882		0.592	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2H	HGNC	protein_coding	OTTHUMT00000345558.1	-	0	67	0	G	NM_006232		184081347	1	tier1	-	no_errors	ENST00000296223	ensembl	human	known	74_37	missense	26.02	90	32	SNP	1.000	A	A	184081347	G	A	184081347	3	1	159	1	0	0	0	0	1	0	0	0	12260	1290	45	3	69	3	POLR2H	3	184081347	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	7	184081347	13941083	56	40334	143	2									
ATP13A3	79572	genome.wustl.edu	37	chr3	194146150	194146150	+	Frame_Shift_Del	DEL	A	A	-																															aggtactgaaaactggaaatAaaaaacactgtggtattttc																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr3:194146150delA	ENST00000439040.1	-	30	4025	c.3234delT	c.(3232-3234)tttfs	p.F1078fs	ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.F1078fs			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1078						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)		AACTGGAAATAAAAAACACTG	0.348																																																	0													88	84	85					3																	194146150		1813	4074	5887	SO:0001589	frameshift_variant	0			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.3234delT	3.37:g.194146150delA	ENSP00000416508:p.Phe1078fs		Q8NC11|Q96KS1	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.F1078fs	ENST00000439040.1	37	c.3234	CCDS43187.1	3																																																																																			ATP13A3	-	tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000133657		0.348	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP13A3	HGNC	protein_coding	OTTHUMT00000342799.2		0	62	0	A	NM_024524		194146150	-1			no_errors	ENST00000256031	ensembl	human	known	74_37	frame_shift_del	7.23	154	12	DEL	1.000	0	-	194146150	A	-	194146150	7	5	159	1	0	1	0	1	0	0	0	0	1126	359	13	0	462	0	ATP13A3	3	194146150	Frame_Shift_Del	DEL	A	TCGA-V5-AASW-01A-11D-A403-09	10064803	194146150	3876280	57	40335											
PDS5A	23244	genome.wustl.edu	37	chr4	39871028	39871028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttacctttgctagtacttCaggggaaacctcttcatctg	9	15	7	10	0	4	0	2	0	2	0	4	1	4	1	2	2	4	2	2	2	4	7			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr4:39871028C>T	ENST00000303538.8	-	22	3030	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K		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						GCTAGTACTTCAGGGGAAACC	0.303																																																	0													169	162	164					4																	39871028		1822	4082	5904	SO:0001583	missense	0			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.2491G>A	4.37:g.39871028C>T	ENSP00000303427:p.Glu831Lys			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E831K	ENST00000303538.8	37	c.2491	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.453741	0.96223	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	M	0.72894	2.215	0.80722	D	1	D	0.54772	0.968	P	0.59221	0.854	T	0.75886	-0.3159	8	.	.	.	-20.9183	19.3844	0.94551	0.0:1.0:0.0:0.0	.	831	Q29RF7	PDS5A_HUMAN	K	831	.	.	E	-	1	0	PDS5A	39547423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.693000	0.84214	2.579000	0.87056	0.655000	0.94253	GAA	PDS5A	-	superfamily_ARM-type_fold	ENSG00000121892		0.303	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	-	0	133	0	C	NM_015200		39871028	-1	tier1	-	no_errors	ENST00000303538	ensembl	human	known	74_37	missense	6.17	76	5	SNP	1.000	T	T	39871028	C	T	39871028	3	4	159	1	0	0	0	0	1	0	0	0	11730	835	29	3	1570	3	PDS5A	4	39871028	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		39871028	151283248	58	40336											
ATP10D	57205	genome.wustl.edu	37	chr4	47561024	47561024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatgccaaacaaggccttcGtactttatgtatagcaaaga	14	11	7	9	1	0	1	0	0	0	1	1	1	0	1	2	1	4	3	2	1	8	7			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr4:47561024G>A	ENST00000273859.3	+	13	2788	c.2519G>A	c.(2518-2520)cGt>cAt	p.R840H	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	840					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						CAAGGCCTTCGTACTTTATGT	0.418																																																	0													185	175	179					4																	47561024		2203	4300	6503	SO:0001583	missense	0			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.2519G>A	4.37:g.47561024G>A	ENSP00000273859:p.Arg840His		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R840H	ENST00000273859.3	37	c.2519	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324850	0.60634	.	.	ENSG00000145246	ENST00000273859	D	0.94862	-3.54	4.52	4.52	0.55395	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	0.98369	0.9458	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99719	1.1009	10	0.87932	D	0	-11.2511	16.4074	0.83684	0.0:0.0:1.0:0.0	.	840	Q9P241	AT10D_HUMAN	H	840	ENSP00000273859:R840H	ENSP00000273859:R840H	R	+	2	0	ATP10D	47255781	1.000000	0.71417	0.973000	0.42090	0.025000	0.11179	9.098000	0.94202	2.351000	0.79841	0.555000	0.69702	CGT	ATP10D	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.418	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	-	0	93	0	G	NM_020453		47561024	1	tier1	-	no_errors	ENST00000273859	ensembl	human	known	74_37	missense	34.21	50	26	SNP	1.000	A	A	47561024	G	A	47561024	3	1	159	1	0	0	0	0	1	0	0	0	1119	1145	40	1	2565	1	ATP10D	4	47561024	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	7689996	47561024	143593252	59	40337											
ATP10D	57205	genome.wustl.edu	37	chr4	47574176	47574176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcctcatgaaggtgatGgtgccaatgatgttagcatg	9	13	12	7	0	2	3	1	3	1	0	2	3	2	3	2	2	3	2	2	2	3	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr4:47574176G>A	ENST00000273859.3	+	17	3438	c.3169G>A	c.(3169-3171)Ggt>Agt	p.G1057S		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1057					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						TGAAGGTGATGGTGCCAATGA	0.438																																																	0													264	229	240					4																	47574176		2203	4300	6503	SO:0001583	missense	0			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.3169G>A	4.37:g.47574176G>A	ENSP00000273859:p.Gly1057Ser		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G1057S	ENST00000273859.3	37	c.3169	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.579596	0.96565	.	.	ENSG00000145246	ENST00000273859	T	0.64260	-0.09	5.77	5.77	0.91146	HAD-like domain (2);	0.053643	0.85682	D	0.000000	D	0.87237	0.6127	H	0.97758	4.07	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.91254	0.5031	10	0.87932	D	0	-10.6704	18.965	0.92692	0.0:0.0:1.0:0.0	.	1057	Q9P241	AT10D_HUMAN	S	1057	ENSP00000273859:G1057S	ENSP00000273859:G1057S	G	+	1	0	ATP10D	47268933	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	9.828000	0.99408	2.724000	0.93272	0.591000	0.81541	GGT	ATP10D	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000145246		0.438	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	-	0	64	0	G	NM_020453		47574176	1	tier1	-	no_errors	ENST00000273859	ensembl	human	known	74_37	missense	26.98	46	17	SNP	1.000	A	A	47574176	G	A	47574176	3	1	159	1	0	0	0	0	1	0	0	0	1119	1348	47	3	3231	3	ATP10D	4	47574176	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	13152	47574176	143580100	60	40338											
ABCG2	9429	genome.wustl.edu	37	chr4	89015732	89015732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaacaaaaacttacgttGcatagttacaaggattgttt	15	13	7	6	1	0	1	0	1	0	0	0	2	0	2	0	1	5	4	0	1	7	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr4:89015732G>T	ENST00000237612.3	-	15	2362	c.1817C>A	c.(1816-1818)gCa>gAa	p.A606E	ABCG2_ENST00000515655.1_Missense_Mutation_p.Q603K	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	606	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	AACTTACGTTGCATAGTTACA	0.423																																																	0													131	107	115					4																	89015732		2203	4300	6503	SO:0001583	missense	0			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1817C>A	4.37:g.89015732G>T	ENSP00000237612:p.Ala606Glu		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A606E	ENST00000237612.3	37	c.1817	CCDS3628.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.23|13.23	2.174396|2.174396	0.38413|0.38413	.|.	.|.	ENSG00000118777|ENSG00000118777	ENST00000237612|ENST00000515655	D|D	0.85556|0.85629	-2.0|-2.01	5.46|5.46	3.75|3.75	0.43078|0.43078	.|.	0.748251|.	0.12804|.	N|.	0.437721|.	T|T	0.77018|0.77018	0.4069|0.4069	L|L	0.31065|0.31065	0.9|0.9	0.09310|0.09310	N|N	0.999997|0.999997	B;P|B	0.34462|0.25272	0.033;0.454|0.122	B;B|B	0.32805|0.30572	0.014;0.153|0.117	T|T	0.63242|0.63242	-0.6681|-0.6681	10|9	0.31617|0.29301	T|T	0.26|0.29	.|.	8.2299|8.2299	0.31593|0.31593	0.1817:0.0:0.8183:0.0|0.1817:0.0:0.8183:0.0	.|.	606;606|603	Q9UNQ0;Q4W5I3|Q9UNQ0-2	ABCG2_HUMAN;.|.	E|K	606|603	ENSP00000237612:A606E|ENSP00000426917:Q603K	ENSP00000237612:A606E|ENSP00000426917:Q603K	A|Q	-|-	2|1	0|0	ABCG2|ABCG2	89234756|89234756	0.039000|0.039000	0.19947|0.19947	0.029000|0.029000	0.17559|0.17559	0.016000|0.016000	0.09150|0.09150	1.436000|1.436000	0.34980|0.34980	0.687000|0.687000	0.31509|0.31509	0.563000|0.563000	0.77884|0.77884	GCA|CAA	ABCG2	-	NULL	ENSG00000118777		0.423	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1		0	71	0	G	NM_004827		89015732	-1			no_errors	ENST00000237612	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.240	T	T	89015732	G	T	89015732	3	4	159	1	0	0	0	0	1	0	0	0	69	1319	46	3	158	3	ABCG2	4	89015732	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	41441556	89015732	102138544	61	40339											
FAM190A	401145	genome.wustl.edu	37	chr4	92519966	92519966	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagacgttacacagaacTtacgggccaccgttgggcag	10	8	11	12	3	1	2	1	0	0	2	1	2	1	2	2	2	3	3	2	2	3	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr4:92519966T>G	ENST00000509176.1	+	11	2749	c.2461T>G	c.(2461-2463)Tta>Gta	p.L821V	CCSER1_ENST00000333691.8_Missense_Mutation_p.L821V	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	821																	TACACAGAACTTACGGGCCAC	0.468																																																	0													93	82	85					4																	92519966		692	1591	2283	SO:0001583	missense	0				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.2461T>G	4.37:g.92519966T>G	ENSP00000425040:p.Leu821Val		Q4W5M0|Q86V57	Missense_Mutation	SNP	NULL	p.L821V	ENST00000509176.1	37	c.2461	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	T	5.842	0.339594	0.11069	.	.	ENSG00000184305	ENST00000509176;ENST00000333691	T;T	0.31510	1.49;1.49	5.47	-0.0172	0.13969	.	.	.	.	.	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24154	-1.0168	9	0.38643	T	0.18	-0.0367	7.1904	0.25822	0.0:0.1496:0.4645:0.3859	.	821	Q9C0I3	F190A_HUMAN	V	821	ENSP00000425040:L821V;ENSP00000329482:L821V	ENSP00000329482:L821V	L	+	1	2	FAM190A	92738989	0.000000	0.05858	0.000000	0.03702	0.518000	0.34316	0.456000	0.21859	-0.125000	0.11703	-0.321000	0.08615	TTA	CCSER1	-	NULL	ENSG00000184305		0.468	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	HGNC	protein_coding	OTTHUMT00000363109.3	-	0	64	0	T	NM_001145065		92519966	1	tier1	-	no_errors	ENST00000333691	ensembl	human	known	74_37	missense	35.19	35	19	SNP	0.000	G	G	92519966	T	G	92519966	3	3	159	1	0	0	0	0	1	0	0	0	5540	1606	56	4	2527	4	FAM190A	4	92519966	Missense_Mutation	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	3504234	92519966	98634310	62	40340											
ANK2	287	genome.wustl.edu	37	chr4	114203968	114203968	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catctggcctcgcaggagggGcacacagatatggttacctt	9	9	12	11	1	1	1	0	0	1	1	2	2	1	2	2	5	1	3	2	5	2	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr4:114203968G>A	ENST00000357077.4	+	18	2072	c.2019G>A	c.(2017-2019)ggG>ggA	p.G673G	ANK2_ENST00000264366.6_Silent_p.G673G|ANK2_ENST00000394537.3_Silent_p.G673G|ANK2_ENST00000506722.1_Silent_p.G652G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	673					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)		CGCAGGAGGGGCACACAGATA	0.453																																																	0													140	106	118					4																	114203968		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2019G>A	4.37:g.114203968G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.G673	ENST00000357077.4	37	c.2019	CCDS3702.1	4																																																																																			ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	46	0	G	NM_001148		114203968	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.109	A	A	114203968	G	A	114203968	2	1	159	1	0	0	0	0	0	0	0	1	621	1190	42	3		3	ANK2	4	114203968	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	21684002	114203968	76950308	63	40341											
ANK2	287	genome.wustl.edu	37	chr4	114277685	114277685	+	Frame_Shift_Del	DEL	A	A	-																															tcagtagatgtggatgaaccAaaacatacaggcagtgggga																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr4:114277685delA	ENST00000357077.4	+	38	7964	c.7911delA	c.(7909-7911)ccafs	p.P2637fs	ANK2_ENST00000264366.6_Frame_Shift_Del_p.P2604fs|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2637					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)		TGGATGAACCAAAACATACAG	0.453																																																	0													141	145	143					4																	114277685		2203	4300	6503	SO:0001589	frameshift_variant	0			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.7911delA	4.37:g.114277685delA	ENSP00000349588:p.Pro2637fs		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.K2638fs	ENST00000357077.4	37	c.7911	CCDS3702.1	4																																																																																			ANK2	-	NULL	ENSG00000145362		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0	48	0	A	NM_001148		114277685	1	tier1		no_errors	ENST00000357077	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.000	-	-	114277685	A	-	114277685	7	5	159	1	0	1	0	1	0	0	0	0	621	117	5	0	8126	0	ANK2	4	114277685	Frame_Shift_Del	DEL	A	TCGA-V5-AASW-01A-11D-A403-09	73717	114277685	76876591	64	40342											
PRSS12	8492	genome.wustl.edu	37	chr4	119203107	119203108	+	Frame_Shift_Ins	INS	-	-	T																															gaattacagtttggtgacacINStttttatccaaggtacaaag																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr4:119203107_119203108insT	ENST00000296498.3	-	13	2893_2894	c.2611_2612insA	c.(2611-2613)agtfs	p.S871fs	SNHG8_ENST00000384096.1_lincRNA|PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	871	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TTTGGTGACACTTTTTATCCAA	0.441																																																	0																																										SO:0001589	frameshift_variant	0			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2612dupA	4.37:g.119203112_119203112dupT	ENSP00000296498:p.Ser871fs		Q9UP16	Frame_Shift_Ins	INS	pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A	p.S871fs	ENST00000296498.3	37	c.2612_2611	CCDS3709.1	4																																																																																			PRSS12	-	superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1	ENSG00000164099		0.441	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2		0	40	0	-			119203108	-1	tier1		no_errors	ENST00000296498	ensembl	human	known	74_37	frame_shift_ins	30.00	42	18	INS	0.991:1.000	T	T	119203108	-	T	119203107	7	5	159	1	0	1	1	0	0	0	0	0	12657	565	20	0	19	0	PRSS12	4	119203107	Frame_Shift_Ins	INS	-	TCGA-V5-AASW-01A-11D-A403-09	4925422	119203107	71951169	65	40343											
ANKRD50	57182	genome.wustl.edu	37	chr4	125593272	125593272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagaggatatctaacttgCgttgaaaatcttccaaagtt	13	13	9	6	1	2	2	0	1	2	1	3	4	3	3	1	2	2	2	1	2	5	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr4:125593272C>T	ENST00000504087.1	-	4	2197	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R208H	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	387										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						ATCTAACTTGCGTTGAAAATC	0.388																																																	0													133	135	134					4																	125593272		2203	4300	6503	SO:0001583	missense	0			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.1160G>A	4.37:g.125593272C>T	ENSP00000425658:p.Arg387His		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R387H	ENST00000504087.1	37	c.1160	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239622	0.39598	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.67171	-0.25;-0.22	5.29	5.29	0.74685	.	0.134060	0.51477	D	0.000088	T	0.58750	0.2144	L	0.36672	1.1	0.42449	D	0.992745	B	0.27679	0.185	B	0.12156	0.007	T	0.57341	-0.7828	10	0.48119	T	0.1	.	19.1267	0.93388	0.0:1.0:0.0:0.0	.	387	Q9ULJ7	ANR50_HUMAN	H	387;208	ENSP00000425658:R387H;ENSP00000425355:R208H	ENSP00000425658:R387H	R	-	2	0	ANKRD50	125812722	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.403000	0.52615	2.753000	0.94483	0.555000	0.69702	CGC	ANKRD50	-	NULL	ENSG00000151458		0.388	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	-	0	54	0	C	NM_020337		125593272	-1	tier1	-	no_errors	ENST00000504087	ensembl	human	known	74_37	missense	40.00	30	20	SNP	1.000	T	T	125593272	C	T	125593272	3	4	159	1	0	0	0	0	1	0	0	0	677	768	27	1	3133	1	ANKRD50	4	125593272	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	6390165	125593272	65561004	66	40344											
RNF150	57484	genome.wustl.edu	37	chr4	142053712	142053712	+	Missense_Mutation	SNP	T	T	C	0	1	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	ccacctccccgcgggcgtccTgcttgggcgagtgctctccg	2	8	13	18	5	1	0	0	0	1	0	4	1	3	0	6	2	2	2	6	2	0	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr4:142053712T>C	ENST00000515673.2	-	1	284	c.251A>G	c.(250-252)cAg>cGg	p.Q84R	RNF150_ENST00000306799.3_Missense_Mutation_p.Q84R|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.Q84R			Q9ULK6	RN150_HUMAN	ring finger protein 150	84	PA.					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)					GCGGGCGTCCTGCTTGGGCGA	0.771																																																	0													11	14	13					4																	142053712		2191	4277	6468	SO:0001583	missense	0			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.251A>G	4.37:g.142053712T>C	ENSP00000425840:p.Gln84Arg		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q84R	ENST00000515673.2	37	c.251	CCDS34065.1	4	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484552	0.26598	.	.	ENSG00000170153	ENST00000306799;ENST00000515673;ENST00000507500	T;T;T	0.07444	3.19;3.19;3.19	4.06	-0.224	0.13115	Protease-associated domain, PA (1);	0.452343	0.19653	N	0.109177	T	0.03011	0.0089	N	0.04355	-0.22	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.002;0.004	T	0.46816	-0.9164	10	0.27082	T	0.32	.	5.3329	0.15942	0.2692:0.0791:0.0:0.6517	.	84;84;84	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	R	84	ENSP00000304321:Q84R;ENSP00000425840:Q84R;ENSP00000425568:Q84R	ENSP00000304321:Q84R	Q	-	2	0	RNF150	142273162	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	1.566000	0.36396	0.127000	0.18452	-0.547000	0.04224	CAG	RNF150	-	NULL	ENSG00000170153		0.771	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF150	HGNC	protein_coding	OTTHUMT00000364739.2	-	0	36	0	T	XM_291090		142053712	-1	tier1	-	no_errors	ENST00000515673	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.998	C	C	142053712	T	C	142053712	3	2	159	1	0	0	0	0	1	0	0	0	13496	1580	55	4	1093	4	RNF150	4	142053712	Missense_Mutation	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	16460440	142053712	49100564	67	40345											
PLRG1	5356	genome.wustl.edu	37	chr4	155458497	155458497	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcagctgttagtaatcGactttcagactgatcaaaag	13	12	8	8	1	3	2	3	1	0	1	4	3	3	2	0	0	2	4	0	0	4	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr4:155458497G>T	ENST00000499023.2	-	14	1552	c.1426C>A	c.(1426-1428)Cga>Aga	p.R476R	PLRG1_ENST00000302078.5_Silent_p.R467R|PLRG1_ENST00000393905.2_Silent_p.R476R	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	476					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				GTTAGTAATCGACTTTCAGAC	0.398																																																	0													116	112	114					4																	155458497		2203	4300	6503	SO:0001819	synonymous_variant	0			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"WD repeat domain containing"	9089	protein-coding gene	gene with protein product	"transport and golgi organization 4 homolog (Drosophila)"	605961	"pleiotropic regulator 1 (PRL1, Arabidopsis homolog)", "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1426C>A	4.37:g.155458497G>T			B3KMK4|Q3KQY5|Q8WUD8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R476	ENST00000499023.2	37	c.1426	CCDS34083.1	4																																																																																			PLRG1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000171566		0.398	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLRG1	HGNC	protein_coding	OTTHUMT00000364824.1		0	39	0	G	NM_002669		155458497	-1			no_errors	ENST00000393905	ensembl	human	known	74_37	silent	6.67	28	2	SNP	1.000	T	T	155458497	G	T	155458497	2	4	159	1	0	0	0	0	0	0	0	1	12145	1066	37	2		2	PLRG1	4	155458497	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	13404785	155458497	35695779	68	40346											
PDGFC	56034	genome.wustl.edu	37	chr4	157684249	157684249	+	Frame_Shift_Del	DEL	C	C	-																															ggtggtgatgcggctatcctCctgtgctccctctgcacaca																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr4:157684249delC	ENST00000502773.1	-	6	1521	c.1031delG	c.(1030-1032)ggafs	p.G345fs	PDGFC_ENST00000541126.1_Frame_Shift_Del_p.G182fs|PDGFC_ENST00000422544.2_Frame_Shift_Del_p.G282fs|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000542208.1_Frame_Shift_Del_p.G190fs	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	345					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CGGCTATCCTCCTGTGCTCCC	0.537																																																	0													126	95	105					4																	157684249		2203	4300	6503	SO:0001589	frameshift_variant	0			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.1031delG	4.37:g.157684249delC	ENSP00000422464:p.Gly345fs		B4DU34|B9EGR8|Q4W5M9|Q9UL22	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom	p.G344fs	ENST00000502773.1	37	c.1031	CCDS3795.1	4																																																																																			PDGFC	-	NULL	ENSG00000145431		0.537	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFC	HGNC	protein_coding	OTTHUMT00000366123.1		0	39	0	C			157684249	-1	tier1		no_errors	ENST00000502773	ensembl	human	known	74_37	frame_shift_del	26.09	17	6	DEL	1.000	-	-	157684249	C	-	157684249	7	5	159	1	0	1	0	1	0	0	0	0	11698	855	30	0	10	0	PDGFC	4	157684249	Frame_Shift_Del	DEL	C	TCGA-V5-AASW-01A-11D-A403-09	2225752	157684249	33470027	69	40347											
NPR3	4883	genome.wustl.edu	37	chr5	32724886	32724886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgaccagtggagactaCgccttcttcaacattgagct	10	10	10	11	1	2	3	1	2	1	1	2	4	2	3	2	2	3	2	2	2	2	4	rs374205048		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr5:32724886C>T	ENST00000265074.8	+	2	1195	c.852C>T	c.(850-852)taC>taT	p.Y284Y	NPR3_ENST00000415167.2_Silent_p.Y284Y|NPR3_ENST00000434067.2_Silent_p.Y68Y|NPR3_ENST00000415685.2_Silent_p.Y68Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	284					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GTGGAGACTACGCCTTCTTCA	0.532																																																	0								C	,,	0,4394		0,0,2197	210	220	217		852,852,204	3.2	1	5		217	1,8573	1.2+/-3.3	0,1,4286	no	coding-synonymous,coding-synonymous,coding-synonymous	NPR3	NM_000908.3,NM_001204375.1,NM_001204376.1	,,	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	,,	284/541,284/542,68/325	32724886	1,12967	2197	4287	6484	SO:0001819	synonymous_variant	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.852C>T	5.37:g.32724886C>T			A2RRD1|B4DT84|E7EPG9	Silent	SNP	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt	p.Y284	ENST00000265074.8	37	c.852	CCDS56357.1	5																																																																																			NPR3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000113389		0.532	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	-	0	24	0	C	NM_000908		32724886	1	tier1	-	no_errors	ENST00000265074	ensembl	human	known	74_37	silent	82.35	3	14	SNP	0.999	T	T	32724886	C	T	32724886	2	4	159	1	0	0	0	0	0	0	0	1	10635	547	19	1		1	NPR3	5	32724886	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		32724886	148190374	70	40348											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33637695	33637695	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttacctgggttaaaaatGggaaaccagtggtagagttc	12	11	11	7	0	0	1	0	0	0	1	2	2	1	2	3	3	2	3	3	3	6	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr5:33637695G>T	ENST00000504830.1	-	12	2210	c.1875C>A	c.(1873-1875)ccC>ccA	p.P625P	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.P625P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	625	Cys-rich.				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						GGTTAAAAATGGGAAACCAGT	0.468										HNSCC(64;0.19)																																							0													131	133	132					5																	33637695		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1875C>A	5.37:g.33637695G>T			A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P625	ENST00000504830.1	37	c.1875	CCDS34140.1	5																																																																																			ADAMTS12	-	NULL	ENSG00000151388		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	-	0	71	0	G	NM_030955		33637695	-1	tier1	-	no_errors	ENST00000504830	ensembl	human	known	74_37	silent	5.88	63	4	SNP	0.333	T	T	33637695	G	T	33637695	2	4	159	1	0	0	0	0	0	0	0	1	257	1335	47	3		3	ADAMTS12	5	33637695	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	912809	33637695	147277565	71	40349											
TNPO1	3842	genome.wustl.edu	37	chr5	72178965	72178965	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttttcaccgatcgaggacGgtggctcagcagcatgatga	9	9	13	10	4	2	2	2	2	0	0	3	5	2	3	1	3	2	4	1	3	0	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr5:72178965G>T	ENST00000337273.5	+	11	1482	c.1056G>T	c.(1054-1056)acG>acT	p.T352T	TNPO1_ENST00000523768.1_Silent_p.T302T|TNPO1_ENST00000454282.1_Silent_p.T302T|TNPO1_ENST00000506351.2_Silent_p.T344T	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	352					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)		GATCGAGGACGGTGGCTCAGC	0.388																																																	0													95	90	92					5																	72178965		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1056G>T	5.37:g.72178965G>T			B4DVC6|Q92957|Q92975	Silent	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.T352	ENST00000337273.5	37	c.1056	CCDS43329.1	5																																																																																			TNPO1	-	superfamily_ARM-type_fold	ENSG00000083312		0.388	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	-	0	46	0	G	NM_002270		72178965	1	tier1	-	no_errors	ENST00000337273	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.125	T	T	72178965	G	T	72178965	2	4	159	1	0	0	0	0	0	0	0	1	16382	1103	39	2		2	TNPO1	5	72178965	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	38541270	72178965	108736295	72	40350											
WDR36	134430	genome.wustl.edu	37	chr5	110427994	110427994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggagaactttatgtgttGcactgagggcagtctccgga	9	10	15	7	1	1	2	0	1	1	1	2	5	1	3	1	3	2	3	1	3	2	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr5:110427994G>A	ENST00000513710.2	+	1	12	c.8G>A	c.(7-9)tGc>tAc	p.C3Y	WDR36_ENST00000505303.1_5'Flank|CTC-551A13.2_ENST00000507269.3_RNA|WDR36_ENST00000506538.2_Missense_Mutation_p.C3Y			Q8NI36	WDR36_HUMAN	WD repeat domain 36	3					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)		TTTATGTGTTGCACTGAGGGC	0.587																																																	0													76	81	79					5																	110427994		2202	4300	6502	SO:0001583	missense	0			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.8G>A	5.37:g.110427994G>A	ENSP00000424628:p.Cys3Tyr		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C3Y	ENST00000513710.2	37	c.8	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	G	17.12	3.306937	0.60305	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.66638	-0.22;-0.22	5.42	2.45	0.29901	.	0.145674	0.32518	N	0.006000	T	0.42517	0.1206	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32079	-0.9920	10	0.87932	D	0	-1.7813	7.4705	0.27347	0.1595:0.1371:0.7033:0.0	.	3	Q8NI36	WDR36_HUMAN	Y	3	ENSP00000423067:C3Y;ENSP00000424628:C3Y	ENSP00000423067:C3Y	C	+	2	0	WDR36	110455893	0.979000	0.34478	0.575000	0.28536	0.105000	0.19272	2.160000	0.42348	0.744000	0.32741	0.655000	0.94253	TGC	WDR36	-	NULL	ENSG00000134987		0.587	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3	-	0	42	0	G	NM_139281		110427994	1	tier1	-	no_errors	ENST00000506538	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.750	A	A	110427994	G	A	110427994	3	1	159	1	0	0	0	0	1	0	0	0	17339	1319	46	3	10	3	WDR36	5	110427994	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	38249029	110427994	70487266	73	40351											
KIF20A	10112	genome.wustl.edu	37	chr5	137519021	137519021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcagactttgcggctatgCgaggatcaaaatggcaatcc	12	8	12	9	2	1	1	1	0	0	1	2	3	2	2	1	4	2	3	1	4	4	2	rs141701454	byFrequency	TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr5:137519021C>T	ENST00000394894.3	+	8	1222	c.996C>T	c.(994-996)tgC>tgT	p.C332C	KIF20A_ENST00000508792.1_Silent_p.C314C	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	332	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			TGCGGCTATGCGAGGATCAAA	0.488													C|||	14	0.00279553	0.0098	0.0014	5008	,	,		22410	0		0	False		,,,				2504	0																0								C		17,4389	25.3+/-52.1	1,15,2187	63	63	63		996	0.4	1	5	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF20A	NM_005733.2		1,16,6486	TT,TC,CC		0.0116,0.3858,0.1384		332/891	137519021	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	0			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.996C>T	5.37:g.137519021C>T			B4DL79|D3DQB6	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.C332	ENST00000394894.3	37	c.996	CCDS4199.1	5																																																																																			KIF20A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000112984		0.488	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1		0	29	0	C	NM_005733		137519021	1			no_errors	ENST00000394894	ensembl	human	known	74_37	silent	8.33	22	2	SNP	0.996	T	T	137519021	C	T	137519021	2	4	159	1	0	0	0	0	0	0	0	1	8313	776	27	1		1	KIF20A	5	137519021	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	27091027	137519021	43396239	74	40352											
CSNK1A1	1452	genome.wustl.edu	37	chr5	148899876	148899876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attacagtgacgcccaatacCcattaggaagttatctggtt	12	12	8	9	1	1	1	0	1	1	0	1	2	1	2	2	2	2	2	2	2	6	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr5:148899876C>T	ENST00000377843.2	-	4	912	c.433G>A	c.(433-435)Ggt>Agt	p.G145S	CSNK1A1_ENST00000515768.1_Missense_Mutation_p.G145S|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.G56S|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.G145S|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.G56S	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CGCCCAATACCCATTAGGAAG	0.333																																					Colon(5;64 69 1309 10383)												0													96	98	97					5																	148899876		2174	4289	6463	SO:0001583	missense	0			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"clock regulator kinase"	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.433G>A	5.37:g.148899876C>T	ENSP00000367074:p.Gly145Ser		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.G145S	ENST00000377843.2	37	c.433	CCDS47303.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.265572	0.95399	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.85039	0.5606	M	0.92317	3.295	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	0.87902	0.2691	10	0.87932	D	0	.	19.933	0.97127	0.0:1.0:0.0:0.0	.	56;56;145;145;145;56	B4DER9;E7ETM0;Q71TU5;P48729;P48729-2;D6REM4	.;.;.;KC1A_HUMAN;.;.	S	145;145;56;56;145;145	ENSP00000261798:G145S;ENSP00000367074:G145S;ENSP00000426747:G56S;ENSP00000427031:G56S;ENSP00000421689:G145S	ENSP00000261798:G145S	G	-	1	0	CSNK1A1	148880069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GGT	CSNK1A1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000113712		0.333	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	CSNK1A1	HGNC	protein_coding		-	0	94	0	C	NM_001892		148899876	-1	tier1	-	no_errors	ENST00000515768	ensembl	human	known	74_37	missense	75.86	14	44	SNP	1.000	T	T	148899876	C	T	148899876	3	4	159	1	0	0	0	0	1	0	0	0	3959	623	22	3	696	3	CSNK1A1	5	148899876	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	11380855	148899876	32015384	75	40353											
MUTED	63915	genome.wustl.edu	37	chr6	8015900	8015900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttaaaaggttgaaaatttCgctaggtccttctccatctc	10	15	6	10	1	3	1	0	1	3	0	7	1	4	1	2	2	0	2	2	2	5	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr6:8015900C>T	ENST00000397457.2	-	5	583	c.546G>A	c.(544-546)gcG>gcA	p.A182A	BLOC1S5-TXNDC5_ENST00000439343.2_Intron|TXNDC5_ENST00000539054.1_Intron|BLOC1S5_ENST00000475998.1_5'UTR|BLOC1S5_ENST00000543936.1_Silent_p.A118A	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1	Q8TDH9	BL1S5_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 5, muted	182					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuron projection development (GO:0031175)|otolith morphogenesis (GO:0032474)|positive regulation of pigment cell differentiation (GO:0050942)	BLOC-1 complex (GO:0031083)|transport vesicle (GO:0030133)											TTGAAAATTTCGCTAGGTCCT	0.423																																																	0													226	213	218					6																	8015900		2202	4300	6502	SO:0001819	synonymous_variant	0			AF426434	CCDS4506.1, CCDS75394.1	6p25.1-p24.3	2012-08-01	2012-08-01	2012-08-01		ENSG00000188428		"Biogenesis of lysosomal organelles complex-1 subunits"	18561	protein-coding gene	gene with protein product		607289	"muted homolog (mouse)"	MUTED		11912185	Standard	NM_001199322		Approved	MU, dJ303A1.3		Q8TDH9	OTTHUMG00000014220	ENST00000397457.2:c.546G>A	6.37:g.8015900C>T			B4DVM2|Q0VDJ6|Q0VDJ7|Q5THS1|Q68D56|Q8N5F9|Q9NU16	Silent	SNP	pirsf_Bloc1s5	p.A182	ENST00000397457.2	37	c.546	CCDS4506.1	6																																																																																			BLOC1S5	-	pirsf_Bloc1s5	ENSG00000188428		0.423	BLOC1S5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLOC1S5	HGNC	protein_coding	OTTHUMT00000039797.2	-	0	86	0	C	NM_201280		8015900	-1	tier1	-	no_errors	ENST00000397457	ensembl	human	known	74_37	silent	46.88	34	30	SNP	0.037	T	T	8015900	C	T	8015900	2	4	159	1	0	0	0	0	0	0	0	1	10030	871	31	1		1	MUTED	6	8015900	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		8015900	163099167	76	40354											
NUP153	9972	genome.wustl.edu	37	chr6	17629455	17629455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggagttaaagaaactGggttgcttaaaccagaagaa	18	8	11	4	0	0	3	0	0	0	3	0	5	0	4	1	2	3	3	1	2	8	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr6:17629455G>T	ENST00000262077.2	-	18	2974	c.2975C>A	c.(2974-2976)cCa>cAa	p.P992Q	NUP153_ENST00000537253.1_Missense_Mutation_p.P1023Q	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	992					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TAAAGAAACTGGGTTGCTTAA	0.348																																																	0													46	50	48					6																	17629455		2201	4298	6499	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2975C>A	6.37:g.17629455G>T	ENSP00000262077:p.Pro992Gln		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.P1023Q	ENST00000262077.2	37	c.3068	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332608	0.24167	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.06371	3.32;3.31	5.75	5.75	0.90469	.	0.272597	0.26183	N	0.025845	T	0.02970	0.0088	L	0.40543	1.245	0.32652	N	0.519259	B;B;B	0.24963	0.101;0.115;0.051	B;B;B	0.26770	0.073;0.043;0.027	T	0.39187	-0.9626	10	0.30854	T	0.27	-5.4574	13.9759	0.64273	0.0:0.0:0.7332:0.2668	.	1023;972;992	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	Q	992;972;1023	ENSP00000262077:P992Q;ENSP00000444029:P1023Q	ENSP00000262077:P992Q	P	-	2	0	NUP153	17737434	0.996000	0.38824	0.905000	0.35620	0.996000	0.88848	2.398000	0.44486	2.719000	0.93026	0.655000	0.94253	CCA	NUP153	-	NULL	ENSG00000124789		0.348	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	-	0	79	0	G			17629455	-1	tier1	-	no_errors	ENST00000537253	ensembl	human	known	74_37	missense	57.89	40	55	SNP	0.907	T	T	17629455	G	T	17629455	3	4	159	1	0	0	0	0	1	0	0	0	10794	1348	47	3	1472	3	NUP153	6	17629455	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	9613555	17629455	153485612	77	40355											
TNXB	7148	genome.wustl.edu	37	chr6	32030171	32030171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtcaggggtcgcatctgtcaCggtcagctcctccaggcgag	6	8	14	13	3	4	0	3	0	1	0	7	1	6	0	2	4	1	2	2	4	0	0			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr6:32030171C>T	ENST00000375244.3	-	20	7132	c.6931G>A	c.(6931-6933)Gtg>Atg	p.V2311M	TNXB_ENST00000375247.2_Missense_Mutation_p.V2311M			P22105	TENX_HUMAN	tenascin XB	2373	Fibronectin type-III 15. {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						GCATCTGTCACGGTCAGCTCC	0.607																																																	0													49	55	53					6																	32030171		1363	2588	3951	SO:0001583	missense	0			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.6931G>A	6.37:g.32030171C>T	ENSP00000364393:p.Val2311Met		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.V2311M	ENST00000375244.3	37	c.6931		6	.	.	.	.	.	.	.	.	.	.	C	3.896	-0.022989	0.07634	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.61158	0.13;0.13	4.48	2.65	0.31530	.	0.122603	0.36665	N	0.002477	T	0.64136	0.2571	M	0.93594	3.435	0.09310	N	0.999996	D	0.67145	0.996	P	0.58620	0.842	T	0.62492	-0.6843	10	0.66056	D	0.02	.	7.1538	0.25626	0.0:0.6788:0.1442:0.177	.	2311	P22105-3	.	M	2311	ENSP00000364393:V2311M;ENSP00000364396:V2311M	ENSP00000364393:V2311M	V	-	1	0	TNXB	32138149	0.255000	0.24002	0.376000	0.26042	0.006000	0.05464	0.913000	0.28611	0.022000	0.15160	-2.589000	0.00165	GTG	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2		0	46	0	C	NM_019105		32030171	-1			no_errors	ENST00000375247	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.174	T	T	32030171	C	T	32030171	3	4	159	1	0	0	0	0	1	0	0	0	16393	536	19	1	7882	1	TNXB	6	32030171	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	14400716	32030171	139084896	78	40356											
IL22RA2	116379	genome.wustl.edu	37	chr6	137476103	137476103	+	Silent	SNP	C	C	T	0	0	0	1	1	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	caccagggagtgaaccgcggCgtcatgctccattctgagta	9	8	12	12	3	2	2	1	2	1	0	3	3	3	3	3	2	2	2	3	2	2	2	rs143485398		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr6:137476103C>T	ENST00000296980.2	-	5	747	c.447G>A	c.(445-447)acG>acA	p.T149T	IL22RA2_ENST00000339602.3_Silent_p.T117T|IL22RA2_ENST00000349184.4_Silent_p.T117T	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	149	Fibronectin type-III 2.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TGAACCGCGGCGTCATGCTCC	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		16274	0		0	False		,,,				2504	0																0								C	,,	0,4406		0,0,2203	121	111	115		447,351,351	-11.5	0	6	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	IL22RA2	NM_052962.2,NM_181309.1,NM_181310.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	149/264,117/232,117/131	137476103	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"Interleukins and interleukin receptors"	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.447G>A	6.37:g.137476103C>T			Q08AH7|Q6UWM1|Q96A41|Q96QR0	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.T149	ENST00000296980.2	37	c.447	CCDS5182.1	6																																																																																			IL22RA2	-	superfamily_Fibronectin_type3	ENSG00000164485		0.552	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	IL22RA2	HGNC	protein_coding	OTTHUMT00000042399.1	-	0	55	0	C			137476103	-1	tier1	rs143485398	no_errors	ENST00000296980	ensembl	human	known	74_37	silent	68.18	14	30	SNP	0.000	T	T	137476103	C	T	137476103	2	4	159	1	0	0	0	0	0	0	0	1	7701	755	27	1		1	IL22RA2	6	137476103	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	105445932	137476103	33638964	79	40357											
ESR1	2099	genome.wustl.edu	37	chr6	152332850	152332850	+	Missense_Mutation	SNP	A	A	G	1	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	tagaatgtgcctggctagagAtcctgatgattggtctcgtc	8	13	12	8	1	1	4	0	2	1	2	4	5	2	4	2	2	1	1	2	2	3	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr6:152332850A>G	ENST00000206249.3	+	5	1518	c.1156A>G	c.(1156-1158)Atc>Gtc	p.I386V	ESR1_ENST00000406599.1_Intron|ESR1_ENST00000440973.1_Missense_Mutation_p.I386V|ESR1_ENST00000338799.5_Missense_Mutation_p.I386V|ESR1_ENST00000427531.2_Missense_Mutation_p.I213V|ESR1_ENST00000456483.2_Missense_Mutation_p.I274V|ESR1_ENST00000443427.1_Missense_Mutation_p.I386V	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	386	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CTGGCTAGAGATCCTGATGAT	0.493																																																	0													148	132	137					6																	152332850		2203	4300	6503	SO:0001583	missense	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1156A>G	6.37:g.152332850A>G	ENSP00000206249:p.Ile386Val		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.I386V	ENST00000206249.3	37	c.1156	CCDS5234.1	6	.	.	.	.	.	.	.	.	.	.	A	5.484	0.274361	0.10403	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394;ENST00000415488	D;D;D;D;D;T;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89;1.27;-3.89	5.42	5.42	0.78866	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.058010	0.64402	D	0.000002	T	0.81418	0.4818	N	0.04768	-0.165	0.58432	D	0.999998	B;B;B;B;B;B	0.34103	0.01;0.437;0.001;0.05;0.019;0.024	B;B;B;B;B;B	0.37304	0.026;0.246;0.004;0.094;0.022;0.038	D	0.83736	0.0201	10	0.02654	T	1	.	15.4537	0.75297	1.0:0.0:0.0:0.0	.	290;167;81;385;386;386	B0QYW6;E7EVR3;C8CJL6;A8KAF4;G4XH65;P03372	.;.;.;.;.;ESR1_HUMAN	V	386;386;274;167;386;386;314;213;59	ENSP00000405330:I386V;ENSP00000342630:I386V;ENSP00000415934:I274V;ENSP00000387500:I386V;ENSP00000206249:I386V;ENSP00000445454:I213V;ENSP00000401995:I59V	ENSP00000206249:I386V	I	+	1	0	ESR1	152374543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.973000	0.70456	2.055000	0.61198	0.482000	0.46254	ATC	ESR1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000091831		0.493	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	-	0	47	0	A			152332850	1	tier1	-	no_errors	ENST00000206249	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	G	G	152332850	A	G	152332850	3	3	159	1	0	0	0	0	1	0	0	0	5272	333	12	4	1174	4	ESR1	6	152332850	Missense_Mutation	SNP	A	TCGA-V5-AASW-01A-11D-A403-09	14856747	152332850	18782217	80	40358											
SYNE1	23345	genome.wustl.edu	37	chr6	152697593	152697593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggcggtagtgatttttgCattaaccaaccactgctgga	9	13	10	9	1	0	1	0	1	0	0	0	2	0	2	2	3	4	3	2	3	3	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr6:152697593C>T	ENST00000367255.5	-	58	9848	c.9247G>A	c.(9247-9249)Gca>Aca	p.A3083T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A3122T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3083T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3090T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3090T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3083					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)		GTGATTTTTGCATTAACCAAC	0.373										HNSCC(10;0.0054)																																							0													101	106	104					6																	152697593		2203	4300	6503	SO:0001583	missense	0			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.9247G>A	6.37:g.152697593C>T	ENSP00000356224:p.Ala3083Thr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A3083T	ENST00000367255.5	37	c.9247	CCDS5236.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.919389|4.919389	0.92249|0.92249	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.58060|.	1.28;0.37;1.28;0.36;1.28|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|T	0.67581|0.67581	0.2908|0.2908	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.996;0.973;0.996;0.999|.	P;P;P;D|.	0.65874|.	0.871;0.731;0.871;0.939|.	T|T	0.66590|0.66590	-0.5885|-0.5885	10|5	0.27082|.	T|.	0.32|.	.|.	15.4596|15.4596	0.75342|0.75342	0.1393:0.8607:0.0:0.0|0.1393:0.8607:0.0:0.0	.|.	3083;200;3083;3090|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	T|I	3083;3090;3083;3090;3122|199	ENSP00000356224:A3083T;ENSP00000396024:A3090T;ENSP00000265368:A3083T;ENSP00000390975:A3090T;ENSP00000341887:A3122T|.	ENSP00000265368:A3083T|.	A|M	-|-	1|3	0|0	SYNE1|SYNE1	152739286|152739286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.637000|3.637000	0.54324|0.54324	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	GCA|ATG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	115	0	C	NM_182961		152697593	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	33.73	55	28	SNP	1.000	T	T	152697593	C	T	152697593	3	4	159	1	0	0	0	0	1	0	0	0	15492	710	25	3	17575	3	SYNE1	6	152697593	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	364743	152697593	18417474	81	40359											
SYNE1	23345	genome.wustl.edu	37	chr6	152751290	152751290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtttctgtagctgaagaaCatattttaattggaacagca	14	14	8	5	0	1	2	0	1	1	1	1	3	1	3	0	1	4	4	0	1	6	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr6:152751290C>T	ENST00000367255.5	-	36	5346	c.4745G>A	c.(4744-4746)tGt>tAt	p.C1582Y	SYNE1_ENST00000341594.5_Missense_Mutation_p.C1652Y|SYNE1_ENST00000367253.4_Missense_Mutation_p.C1582Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.C1582Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.C1589Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.C1589Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1582					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)		AGCTGAAGAACATATTTTAAT	0.303										HNSCC(10;0.0054)																																							0													53	50	51					6																	152751290		2200	4290	6490	SO:0001583	missense	0			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.4745G>A	6.37:g.152751290C>T	ENSP00000356224:p.Cys1582Tyr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.C1582Y	ENST00000367255.5	37	c.4745	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456959	0.63401	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000002	T	0.56702	0.2003	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.982;0.98;0.982;0.992	T	0.49934	-0.8886	10	0.07644	T	0.81	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	1565;1582;1582;1582;1589	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	Y	1582;1589;1582;1589;1652;1582	ENSP00000356224:C1582Y;ENSP00000396024:C1589Y;ENSP00000265368:C1582Y;ENSP00000390975:C1589Y;ENSP00000341887:C1652Y;ENSP00000356222:C1582Y	ENSP00000265368:C1582Y	C	-	2	0	SYNE1	152792983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.291000	0.72719	2.834000	0.97654	0.650000	0.86243	TGT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.303	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	80	0	C	NM_182961		152751290	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	72.86	19	51	SNP	1.000	T	T	152751290	C	T	152751290	3	4	159	1	0	0	0	0	1	0	0	0	15492	478	17	3	22165	3	SYNE1	6	152751290	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	53697	152751290	18363777	82	40360											
RBAK	57786	genome.wustl.edu	37	chr7	5103989	5103989	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggaaatccttcagccaaaAgggaaccctcactgtacatc	13	8	8	12	0	2	0	2	0	0	0	4	2	3	2	3	2	3	1	3	2	5	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr7:5103989A>C	ENST00000353796.3	+	6	1226	c.902A>C	c.(901-903)aAg>aCg	p.K301T	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.K301T|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	301					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)		TTCAGCCAAAAGGGAACCCTC	0.408																																																	0													70	73	72					7																	5103989		2203	4300	6503	SO:0001583	missense	0			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.902A>C	7.37:g.5103989A>C	ENSP00000275423:p.Lys301Thr		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K301T	ENST00000353796.3	37	c.902	CCDS5337.1	7	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211623	0.39102	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.16457	2.34;2.34	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000044	T	0.29061	0.0722	L	0.41906	1.305	0.34527	D	0.708762	D	0.76494	0.999	D	0.79784	0.993	T	0.29088	-1.0023	8	.	.	.	.	11.0559	0.47918	1.0:0.0:0.0:0.0	.	301	Q9NYW8	RBAK_HUMAN	T	301	ENSP00000275423:K301T;ENSP00000380120:K301T	.	K	+	2	0	RBAK	5070515	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.165000	0.16564	1.931000	0.55961	0.454000	0.30748	AAG	RBAK	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000146587		0.408	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	HGNC	protein_coding	OTTHUMT00000241640.2		0	31	0	A	NM_021163		5103989	1			no_errors	ENST00000353796	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.002	C	C	5103989	A	C	5103989	3	2	159	1	0	0	0	0	1	0	0	0	13145	72	3	4	916	4	RBAK	7	5103989	Missense_Mutation	SNP	A	TCGA-V5-AASW-01A-11D-A403-09		5103989	154034674	83	40361											
ETV1	2115	genome.wustl.edu	37	chr7	13935516	13935516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acacgtagccttcgttgtagGggtgggggttgcagcagccc	6	9	16	10	2	0	0	0	0	0	0	1	0	0	0	2	4	4	6	2	4	2	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr7:13935516G>A	ENST00000430479.1	-	14	2076	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L	ETV1_ENST00000405358.4_Missense_Mutation_p.P484L|ETV1_ENST00000405218.2_Missense_Mutation_p.P470L|ETV1_ENST00000403685.1_Missense_Mutation_p.P452L|ETV1_ENST00000405192.2_Missense_Mutation_p.P447L|ETV1_ENST00000242066.5_Missense_Mutation_p.P452L|ETV1_ENST00000343495.5_Missense_Mutation_p.P452L|ETV1_ENST00000420159.2_Missense_Mutation_p.P412L|ETV1_ENST00000399357.3_Missense_Mutation_p.P367L|ETV1_ENST00000403527.1_Missense_Mutation_p.P430L	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	470					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCGTTGTAGGGGTGGGGGTT	0.493			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																			Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	0													54	52	53					7																	13935516		1970	4151	6121	SO:0001583	missense	0				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1409C>T	7.37:g.13935516G>A	ENSP00000405327:p.Pro470Leu		A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.P470L	ENST00000430479.1	37	c.1409	CCDS55088.1	7	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324343	0.60634	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685	T;T;T;T;T;T;T;T;T;T	0.11277	2.84;2.82;2.82;2.79;2.84;2.87;2.83;2.8;2.84;2.82	4.94	4.94	0.65067	.	0.109671	0.64402	D	0.000007	T	0.31979	0.0814	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;P	0.89917	0.997;1.0;1.0;1.0;0.999;0.999;0.928	P;D;D;D;D;D;P	0.85130	0.84;0.996;0.997;0.996;0.997;0.991;0.609	T	0.01114	-1.1447	10	0.48119	T	0.1	.	18.3571	0.90361	0.0:0.0:1.0:0.0	.	458;452;484;412;367;430;470	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	L	470;452;452;412;367;447;484;430;470;452	ENSP00000405327:P470L;ENSP00000242066:P452L;ENSP00000340853:P452L;ENSP00000411626:P412L;ENSP00000382293:P367L;ENSP00000385381:P447L;ENSP00000384085:P484L;ENSP00000384138:P430L;ENSP00000385551:P470L;ENSP00000385686:P452L	ENSP00000242066:P452L	P	-	2	0	ETV1	13902041	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.660000	0.83776	2.569000	0.86673	0.650000	0.86243	CCC	ETV1	-	NULL	ENSG00000006468		0.493	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ETV1	HGNC	protein_coding	OTTHUMT00000326111.1	-	0	54	0	G	NM_004956		13935516	-1	tier1	-	no_errors	ENST00000405218	ensembl	human	known	74_37	missense	13.24	59	9	SNP	1.000	A	A	13935516	G	A	13935516	3	1	159	1	0	0	0	0	1	0	0	0	5293	1232	43	3	28	3	ETV1	7	13935516	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	8831527	13935516	145203147	84	40362											
SNX10	29887	genome.wustl.edu	37	chr7	26411551	26411551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgggcagactaagtactCtgtggaagaagcaattcaca	13	10	10	8	0	3	2	1	0	2	2	3	3	3	3	0	2	2	3	0	2	5	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr7:26411551C>G	ENST00000338523.4	+	6	609	c.422C>G	c.(421-423)tCt>tGt	p.S141C	SNX10_ENST00000446848.2_Missense_Mutation_p.S167C|SNX10_ENST00000409367.1_Missense_Mutation_p.S101C|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000396376.1_Missense_Mutation_p.S141C|SNX10_ENST00000409838.1_Missense_Mutation_p.S57C|AC004540.4_ENST00000451264.1_RNA|AC004540.4_ENST00000451368.1_RNA	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	141					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						ACTAAGTACTCTGTGGAAGAA	0.383																																																	0													127	121	123					7																	26411551		2203	4300	6503	SO:0001583	missense	0			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.422C>G	7.37:g.26411551C>G	ENSP00000343709:p.Ser141Cys		E9PFH5|Q8IYT5	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.S167C	ENST00000338523.4	37	c.500	CCDS5399.1	7	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829731	0.71258	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000446848;ENST00000396376;ENST00000409367;ENST00000409838	T;T;T;T;T;T	0.66995	-0.24;0.34;0.31;0.34;-0.23;0.71	5.83	5.83	0.93111	.	0.049618	0.85682	D	0.000000	T	0.79621	0.4477	M	0.62723	1.935	0.54753	D	0.999986	D;D	0.76494	0.999;0.997	P;P	0.61328	0.887;0.737	T	0.80160	-0.1498	10	0.72032	D	0.01	.	20.1356	0.98028	0.0:1.0:0.0:0.0	.	167;141	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	C	167;141;167;141;101;57	ENSP00000408164:S167C;ENSP00000343709:S141C;ENSP00000395474:S167C;ENSP00000379661:S141C;ENSP00000387274:S101C;ENSP00000386540:S57C	ENSP00000343709:S141C	S	+	2	0	SNX10	26378076	1.000000	0.71417	0.970000	0.41538	0.965000	0.64279	6.885000	0.75606	2.755000	0.94549	0.650000	0.86243	TCT	SNX10	-	NULL	ENSG00000086300		0.383	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX10	HGNC	protein_coding	OTTHUMT00000214120.1	-	0	45	0	C			26411551	1	tier1	-	no_errors	ENST00000446848	ensembl	human	known	74_37	missense	8.70	63	6	SNP	0.999	G	G	26411551	C	G	26411551	3	3	159	1	0	0	0	0	1	0	0	0	14926	913	32	5	440	5	SNX10	7	26411551	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	12476035	26411551	132727112	85	40363											
MRPS24	64951	genome.wustl.edu	37	chr7	43906348	43906348	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagtttggaggtggagtcGcacaggacatttgtaaaagt	12	10	13	6	1	0	0	0	0	0	0	1	3	0	3	0	4	0	3	0	4	2	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr7:43906348G>A	ENST00000317534.5	-	4	515	c.454C>T	c.(454-456)Cga>Tga	p.R152*	URGCP-MRPS24_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'Flank	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	152					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						AGGTGGAGTCGCACAGGACAT	0.478																																																	0													84	83	83					7																	43906348		2203	4300	6503	SO:0001587	stop_gained	0			AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"Mitochondrial ribosomal proteins / small subunits"	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.454C>T	7.37:g.43906348G>A	ENSP00000318158:p.Arg152*		A4D1U9|P82668|Q96Q23|Q9P047	Nonsense_Mutation	SNP	NULL	p.R152*	ENST00000317534.5	37	c.454	CCDS5473.1	7	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886843	0.72410	.	.	ENSG00000062582	ENST00000317534	.	.	.	5.07	3.27	0.37495	.	0.125811	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-12.5472	4.926	0.13894	0.1788:0.0:0.6539:0.1673	.	.	.	.	X	152	.	ENSP00000318158:R152X	R	-	1	2	MRPS24	43872873	1.000000	0.71417	0.961000	0.40146	0.906000	0.53458	5.126000	0.64721	0.549000	0.28973	-0.148000	0.13756	CGA	MRPS24	-	NULL	ENSG00000062582		0.478	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS24	HGNC	protein_coding	OTTHUMT00000250949.1	-	0	63	0	G	NM_032014		43906348	-1	tier1	-	no_errors	ENST00000317534	ensembl	human	known	74_37	nonsense	32.08	36	17	SNP	0.994	A	A	43906348	G	A	43906348	4	1	159	1	0	0	0	0	0	1	0	0	9873	1095	38	1	53	1	MRPS24	7	43906348	Nonsense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	17494797	43906348	115232315	86	40364											
ADCY1	107	genome.wustl.edu	37	chr7	45747987	45747987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccacctgagcacgctggcGgactttgccattgagatgtt	7	11	11	12	2	0	2	0	2	0	1	1	4	1	3	3	2	2	3	3	2	0	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr7:45747987G>A	ENST00000297323.7	+	18	2878	c.2856G>A	c.(2854-2856)gcG>gcA	p.A952A		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	952					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCACGCTGGCGGACTTTGCCA	0.512																																																	0													217	171	187					7																	45747987		2203	4300	6503	SO:0001819	synonymous_variant	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2856G>A	7.37:g.45747987G>A			A4D2L8|Q75MI1	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A952	ENST00000297323.7	37	c.2856	CCDS34631.1	7																																																																																			ADCY1	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000164742		0.512	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	-	0	47	0	G	NM_021116		45747987	1	tier1	-	no_errors	ENST00000297323	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.001	A	A	45747987	G	A	45747987	2	1	159	1	0	0	0	0	0	0	0	1	292	1103	39	1		1	ADCY1	7	45747987	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	1841639	45747987	113390676	87	40365											
ABCA13	154664	genome.wustl.edu	37	chr7	48559855	48559855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagtacttctcctcttgagGgttctgctacactgggacct	7	13	9	12	0	3	1	0	1	3	0	4	2	3	2	2	2	3	3	2	2	2	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr7:48559855G>T	ENST00000435803.1	+	53	14040	c.14016G>T	c.(14014-14016)agG>agT	p.R4672S	ABCA13_ENST00000544596.1_Missense_Mutation_p.R402S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4672					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						TCCTCTTGAGGGTTCTGCTAC	0.507																																																	0													58	54	55					7																	48559855		1934	4156	6090	SO:0001583	missense	0			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.14016G>T	7.37:g.48559855G>T	ENSP00000411096:p.Arg4672Ser		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R4672S	ENST00000435803.1	37	c.14016	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051006	0.55218	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87334	-2.07;-2.24;-2.19	5.32	0.907	0.19321	.	0.000000	0.51477	D	0.000098	D	0.90369	0.6986	M	0.80183	2.485	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.80346	-0.1421	10	0.15066	T	0.55	.	6.3605	0.21425	0.3608:0.0:0.5148:0.1244	.	402;2374;4672	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	S	4672;445;402	ENSP00000411096:R4672S;ENSP00000391042:R445S;ENSP00000442634:R402S	ENSP00000391042:R445S	R	+	3	2	ABCA13	48530401	0.000000	0.05858	0.001000	0.08648	0.177000	0.22998	-0.365000	0.07573	0.014000	0.14944	-0.797000	0.03246	AGG	ABCA13	-	NULL	ENSG00000179869		0.507	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2		0	55	0	G	NM_152701		48559855	1			no_errors	ENST00000435803	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.001	T	T	48559855	G	T	48559855	3	4	159	1	0	0	0	0	1	0	0	0	31	1223	43	3	14055	3	ABCA13	7	48559855	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	2811868	48559855	110578808	88	40366											
ZNF679	168417	genome.wustl.edu	37	chr7	63709499	63709499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggtatccgcagatttatgGctaaaagaccgggatcccct	11	9	10	11	2	0	2	0	0	0	2	2	3	2	3	4	3	0	3	4	3	4	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr7:63709499G>T	ENST00000421025.1	+	2	273	c.4G>T	c.(4-6)Gct>Tct	p.A2S	ZNF679_ENST00000255746.4_Missense_Mutation_p.A2S	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	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)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CAGATTTATGGCTAAAAGACC	0.567																																																	0													71	60	63					7																	63709499		692	1591	2283	SO:0001583	missense	0			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.4G>T	7.37:g.63709499G>T	ENSP00000416809:p.Ala2Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A2S	ENST00000421025.1	37	c.4	CCDS47592.1	7	.	.	.	.	.	.	.	.	.	.	g	9.411	1.080578	0.20309	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.06449	3.3;3.3	0.421	-0.841	0.10752	.	.	.	.	.	T	0.07548	0.0190	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	D	0.70227	0.968	T	0.32903	-0.9889	8	0.72032	D	0.01	.	.	.	.	.	2	Q8IYX0	ZN679_HUMAN	S	2	ENSP00000416809:A2S;ENSP00000255746:A2S	ENSP00000255746:A2S	A	+	1	0	ZNF679	63346934	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.503000	0.22610	-0.677000	0.05231	-0.693000	0.03709	GCT	ZNF679	-	NULL	ENSG00000197123		0.567	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	HGNC	protein_coding	OTTHUMT00000344317.2	-	0	95	0	G	NM_153363		63709499	1	tier1	-	no_errors	ENST00000255746	ensembl	human	known	74_37	missense	38.37	53	33	SNP	0.000	T	T	63709499	G	T	63709499	3	4	159	1	0	0	0	0	1	0	0	0	18134	1203	42	3	6	3	ZNF679	7	63709499	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	15149644	63709499	95429164	89	40367											
SLC12A9	56996	genome.wustl.edu	37	chr7	100460405	100460405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggatctaaccctctcaccctCcgtgcgccagggggctcagc	6	7	11	17	2	3	0	2	0	2	0	5	1	4	1	4	3	3	1	4	3	1	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr7:100460405C>T	ENST00000354161.3	+	13	1939	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	SLC12A9_ENST00000540482.1_Missense_Mutation_p.S605F|SLC12A9_ENST00000428758.1_Missense_Mutation_p.S605F|SLC12A9_ENST00000415287.1_Missense_Mutation_p.S516F|SLC12A9_ENST00000275729.3_Missense_Mutation_p.S516F	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	605					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)					CTCTCACCCTCCGTGCGCCAG	0.632																																																	0													133	109	117					7																	100460405		2203	4300	6503	SO:0001583	missense	0			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.1814C>T	7.37:g.100460405C>T	ENSP00000275730:p.Ser605Phe		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.S605F	ENST00000354161.3	37	c.1814	CCDS5707.1	7	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283087	0.59867	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.93953	-2.72;-2.72;-2.36;-2.36;-3.32	5.16	4.21	0.49690	.	0.241779	0.43260	D	0.000588	D	0.96219	0.8767	M	0.85197	2.74	0.58432	D	0.999998	D;B	0.60575	0.988;0.371	D;B	0.64321	0.924;0.2	D	0.96473	0.9350	10	0.87932	D	0	.	12.8135	0.57652	0.0:0.834:0.166:0.0	.	516;605	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	F	605;605;516;516;605;231	ENSP00000443702:S605F;ENSP00000408301:S605F;ENSP00000275729:S516F;ENSP00000413796:S516F;ENSP00000275730:S605F	ENSP00000275729:S516F	S	+	2	0	SLC12A9	100298341	0.995000	0.38212	0.289000	0.24876	0.862000	0.49288	5.709000	0.68384	2.404000	0.81709	0.491000	0.48974	TCC	SLC12A9	-	NULL	ENSG00000146828		0.632	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A9	HGNC	protein_coding	OTTHUMT00000342837.1		0	32	0	C	NM_020246		100460405	1			no_errors	ENST00000354161	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.876	T	T	100460405	C	T	100460405	3	4	159	1	0	0	0	0	1	0	0	0	14435	855	30	3	1860	3	SLC12A9	7	100460405	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	36750906	100460405	58678258	90	40368											
MLL5	55904	genome.wustl.edu	37	chr7	104717849	104717849	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtttatgctgagagaaCagtttgaagcaaatgggtat	14	11	13	3	0	0	3	0	2	0	1	0	5	0	4	0	2	3	5	0	2	6	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr7:104717849C>T	ENST00000311117.3	+	11	1644	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	KMT2E_ENST00000334877.4_Nonsense_Mutation_p.Q367*|KMT2E_ENST00000476671.1_Nonsense_Mutation_p.Q367*|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.Q367*|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	367	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GCTGAGAGAACAGTTTGAAGC	0.318																																																	0													54	57	56					7																	104717849		2203	4291	6494	SO:0001587	stop_gained	0			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.1099C>T	7.37:g.104717849C>T	ENSP00000312379:p.Gln367*		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Nonsense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.Q367*	ENST00000311117.3	37	c.1099	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	C	41	8.791905	0.98956	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	367;367;367;367;367;225;367;301	.	ENSP00000257745:Q367X	Q	+	1	0	MLL5	104505085	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.487000	0.81328	2.832000	0.97577	0.655000	0.94253	CAG	KMT2E	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000005483		0.318	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1	-	0	65	0	C			104717849	1	tier1	-	no_errors	ENST00000257745	ensembl	human	known	74_37	nonsense	34.88	56	30	SNP	1.000	T	T	104717849	C	T	104717849	4	4	159	1	0	0	0	0	0	1	0	0	9662	479	17	3	1133	3	MLL5	7	104717849	Nonsense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	4257444	104717849	54420814	91	40369											
ZYX	7791	genome.wustl.edu	37	chr7	143080174	143080174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	gcccccagcctcatctccggCtccagcccctaagttttctc	5	10	6	20	1	3	0	1	0	2	0	6	0	4	0	7	1	2	2	7	1	1	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr7:143080174C>G	ENST00000322764.5	+	5	1127	c.782C>G	c.(781-783)gCt>gGt	p.A261G	ZYX_ENST00000449423.2_Missense_Mutation_p.A174G|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_Missense_Mutation_p.A104G|ZYX_ENST00000477373.1_3'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	261					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)					TCATCTCCGGCTCCAGCCCCT	0.587																																																	0													114	143	133					7																	143080174		2203	4300	6503	SO:0001583	missense	0			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.782C>G	7.37:g.143080174C>G	ENSP00000324422:p.Ala261Gly		A4D2G6|Q6I9S4	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A261G	ENST00000322764.5	37	c.782	CCDS5883.1	7	.	.	.	.	.	.	.	.	.	.	C	7.552	0.662874	0.14710	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910	T;T;T;T	0.55052	0.63;0.55;0.54;0.55	3.18	3.18	0.36537	.	1.864190	0.03206	U	0.175436	T	0.39600	0.1084	N	0.22421	0.69	0.09310	N	1	B;P	0.34662	0.243;0.462	B;B	0.24541	0.054;0.045	T	0.32428	-0.9907	10	0.27785	T	0.31	.	12.0942	0.53744	0.0:1.0:0.0:0.0	.	174;261	B4DQR8;Q15942	.;ZYX_HUMAN	G	261;229;174;104	ENSP00000324422:A261G;ENSP00000346417:A229G;ENSP00000394158:A174G;ENSP00000376642:A104G	ENSP00000324422:A261G	A	+	2	0	ZYX	142790296	0.035000	0.19736	0.490000	0.27465	0.421000	0.31385	2.188000	0.42612	1.294000	0.44707	0.655000	0.94253	GCT	ZYX	-	NULL	ENSG00000159840		0.587	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYX	HGNC	protein_coding	OTTHUMT00000156296.2	-	0	57	0	C	NM_003461		143080174	1	tier1	-	no_errors	ENST00000322764	ensembl	human	known	74_37	missense	37.33	47	28	SNP	0.023	G	G	143080174	C	G	143080174	3	3	159	1	0	0	0	0	1	0	0	0	18302	797	28	5	796	5	ZYX	7	143080174	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	38362325	143080174	16058489	92	40370											
C8orf80	389643	genome.wustl.edu	37	chr8	27888775	27888776	+	Frame_Shift_Ins	INS	-	-	T																															gtacctcctggatcaggaaaINSttttttttgcagctatcata																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr8:27888775_27888776insT	ENST00000413272.2	-	15	2034_2035	c.1892_1893insA	c.(1891-1893)aatfs	p.N631fs	NUGGC_ENST00000341513.6_Frame_Shift_Ins_p.N631fs	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	631					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)										GGATCAGGAAATTTTTTTTGCA	0.455																																																	0																																										SO:0001589	frameshift_variant	0			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.1893dupA	8.37:g.27888783_27888783dupT	ENSP00000408697:p.Asn631fs		Q6ZP73	Frame_Shift_Ins	INS	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.N631fs	ENST00000413272.2	37	c.1893_1892	CCDS47833.1	8																																																																																			NUGGC	-	NULL	ENSG00000189233		0.455	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1		0	53	0	-	NM_001010906		27888776	-1	tier1		no_errors	ENST00000341513	ensembl	human	known	74_37	frame_shift_ins	5.41	35	2	INS	0.130:0.005	T	T	27888776	-	T	27888775	7	5	159	1	0	1	1	0	0	0	0	0	2446	98	4	0	517	0	C8orf80	8	27888775	Frame_Shift_Ins	INS	-	TCGA-V5-AASW-01A-11D-A403-09		27888775	118475247	93	40371											
SGK196	84197	genome.wustl.edu	37	chr8	42958883	42958883	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcacttcaggataggacaGatgaaaaactgctcaccttg	13	9	10	9	0	3	2	3	1	0	1	3	4	3	4	1	3	2	1	1	3	3	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr8:42958883G>A	ENST00000331373.5	+	4	447	c.192G>A	c.(190-192)caG>caA	p.Q64Q		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	64					brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GGATAGGACAGATGAAAAACT	0.532																																																	0													138	114	122					8																	42958883		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.192G>A	8.37:g.42958883G>A				Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.Q64	ENST00000331373.5	37	c.192	CCDS6141.1	8																																																																																			POMK	-	NULL	ENSG00000185900		0.532	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMK	HGNC	protein_coding	OTTHUMT00000377291.2	-	0	20	0	G	NM_032237		42958883	1	tier1	-	no_errors	ENST00000331373	ensembl	human	known	74_37	silent	53.85	6	7	SNP	0.991	A	A	42958883	G	A	42958883	2	1	159	1	0	0	0	0	0	0	0	1	14253	933	33	3		3	SGK196	8	42958883	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	15070108	42958883	103405139	94	40372											
RP1	6101	genome.wustl.edu	37	chr8	55538983	55538983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtggcatctgggtatttGagaggaatggcaaagaagag	14	8	16	3	0	1	3	0	1	1	3	1	6	1	4	0	4	0	3	0	4	5	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr8:55538983G>A	ENST00000220676.1	+	4	2689	c.2541G>A	c.(2539-2541)ttG>ttA	p.L847L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	847					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.L847F(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)			CTGGGTATTTGAGAGGAATGG	0.343																																					Colon(91;1014 1389 7634 14542 40420)												1	Substitution - Missense(1)	cervix(1)											43	46	45					8																	55538983		2203	4298	6501	SO:0001819	synonymous_variant	0			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.2541G>A	8.37:g.55538983G>A				Silent	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L847	ENST00000220676.1	37	c.2541	CCDS6160.1	8																																																																																			RP1	-	NULL	ENSG00000104237		0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	92	0	G	NM_006269		55538983	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	silent	70.51	23	55	SNP	0.895	A	A	55538983	G	A	55538983	2	1	159	1	0	0	0	0	0	0	0	1	13577	1281	45	3		3	RP1	8	55538983	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	12580100	55538983	90825039	95	40373											
MYBL1	4603	genome.wustl.edu	37	chr8	67488276	67488276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtagtgttttcagtggtGtatgttttagcgccatatta	8	18	11	4	1	1	0	1	0	0	0	1	0	1	0	1	2	1	4	1	2	5	8	rs373484712		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr8:67488276G>A	ENST00000522677.3	-	10	1846	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I	MYBL1_ENST00000517885.1_Missense_Mutation_p.T137I|MYBL1_ENST00000524176.2_Missense_Mutation_p.T479I	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	479	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TTTCAGTGGTGTATGTTTTAG	0.388																																																	0								G	ILE/THR,ILE/THR	0,3886		0,0,1943	89	82	84		1436,1436	5.5	1	8		84	1,8275		0,1,4137	no	missense,missense	MYBL1	NM_001080416.2,NM_001144755.1	89,89	0,1,6080	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging	479/753,479/693	67488276	1,12161	1943	4138	6081	SO:0001583	missense	0			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.1436C>T	8.37:g.67488276G>A	ENSP00000429633:p.Thr479Ile		E7EW29|Q495F9	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.T479I	ENST00000522677.3	37	c.1436	CCDS47867.1	8	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956702	0.73902	0.0	1.21E-4	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.36520	1.71;1.93;1.25	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.988;0.986;0.999	T	0.52719	-0.8538	10	0.56958	D	0.05	-13.0842	17.4848	0.87684	0.0:0.0:1.0:0.0	.	479;478;479	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	I	479;137;479	ENSP00000429633:T479I;ENSP00000428265:T137I;ENSP00000428011:T479I	ENSP00000428265:T137I	T	-	2	0	MYBL1	67650830	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	8.381000	0.90152	2.571000	0.86741	0.591000	0.81541	ACA	MYBL1	-	NULL	ENSG00000185697		0.388	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL1	HGNC	protein_coding	OTTHUMT00000379221.3	-	0	44	0	G	XM_034274		67488276	-1	tier1	-	no_errors	ENST00000522677	ensembl	human	known	74_37	missense	12.73	48	7	SNP	1.000	A	A	67488276	G	A	67488276	3	1	159	1	0	0	0	0	1	0	0	0	10047	1377	48	3	850	3	MYBL1	8	67488276	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	11949293	67488276	78875746	96	40374											
FAM135B	51059	genome.wustl.edu	37	chr8	139165415	139165415	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagattcattattgtaggacTtgtcactggaacatcaaaat	14	13	7	7	0	3	1	3	0	0	1	3	3	3	3	0	2	1	1	0	2	5	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr8:139165415T>G	ENST00000395297.1	-	13	1473	c.1303A>C	c.(1303-1305)Agt>Cgt	p.S435R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	435										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)			ATTGTAGGACTTGTCACTGGA	0.308										HNSCC(54;0.14)																																							0													49	47	48					8																	139165415		1832	4083	5915	SO:0001583	missense	0			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.1303A>C	8.37:g.139165415T>G	ENSP00000378710:p.Ser435Arg		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.S435R	ENST00000395297.1	37	c.1303	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962457	0.34659	.	.	ENSG00000147724	ENST00000395297	T	0.14766	2.48	5.6	4.44	0.53790	.	1.042420	0.07404	N	0.891200	T	0.13713	0.0332	L	0.51422	1.61	0.22666	N	0.998879	P	0.41041	0.736	B	0.36289	0.221	T	0.23833	-1.0177	10	0.27082	T	0.32	-1.9071	8.0845	0.30765	0.0:0.0909:0.0:0.9091	.	435	Q49AJ0	F135B_HUMAN	R	435	ENSP00000378710:S435R	ENSP00000276737:S435R	S	-	1	0	FAM135B	139234597	0.018000	0.18449	0.859000	0.33776	0.653000	0.38743	1.042000	0.30303	0.971000	0.38288	0.533000	0.62120	AGT	FAM135B	-	NULL	ENSG00000147724		0.308	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	36	0	T	NM_015912		139165415	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	52.50	19	21	SNP	0.280	G	G	139165415	T	G	139165415	3	3	159	1	0	0	0	0	1	0	0	0	5468	1609	56	4	2949	4	FAM135B	8	139165415	Missense_Mutation	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	71677139	139165415	7198607	97	40375											
CDC37L1	55664	genome.wustl.edu	37	chr9	4701964	4701964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	acaaagttttcaacctatgaCagttcagaatcatgttcccc	13	12	5	11	0	3	2	3	1	0	1	4	2	4	2	3	0	1	3	3	0	4	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:4701964C>T	ENST00000381854.3	+	6	1050	c.848C>T	c.(847-849)aCa>aTa	p.T283I	CDC37L1_ENST00000381858.1_Missense_Mutation_p.T283I	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	283	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)		CAACCTATGACAGTTCAGAAT	0.338																																																	0													96	88	91					9																	4701964		2203	4298	6501	SO:0001583	missense	0			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.848C>T	9.37:g.4701964C>T	ENSP00000371278:p.Thr283Ile		B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	pfam_Cdc37_Hsp90-bd	p.T283I	ENST00000381854.3	37	c.848	CCDS6454.1	9	.	.	.	.	.	.	.	.	.	.	C	9.096	1.002895	0.19121	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.44881	0.91;0.91	5.82	3.99	0.46301	.	0.698156	0.14455	N	0.318535	T	0.18800	0.0451	N	0.02011	-0.69	0.09310	N	1	B	0.11235	0.004	B	0.19666	0.026	T	0.18398	-1.0338	10	0.44086	T	0.13	-24.3257	8.3889	0.32516	0.0:0.6883:0.0:0.3117	.	283	Q7L3B6	CD37L_HUMAN	I	283	ENSP00000371282:T283I;ENSP00000371278:T283I	ENSP00000371278:T283I	T	+	2	0	CDC37L1	4691964	0.053000	0.20554	0.995000	0.50966	0.950000	0.60333	0.791000	0.26915	0.802000	0.34089	0.655000	0.94253	ACA	CDC37L1	-	NULL	ENSG00000106993		0.338	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC37L1	HGNC	protein_coding	OTTHUMT00000051564.1	-	0	81	0	C	NM_017913		4701964	1	tier1	-	no_errors	ENST00000381854	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.037	T	T	4701964	C	T	4701964	3	4	159	1	0	0	0	0	1	0	0	0	3076	478	17	3	870	3	CDC37L1	9	4701964	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		4701964	136511467	98	40376											
MLLT3	4300	genome.wustl.edu	37	chr9	20414313	20414313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctactgctgctgctactGctgctgctgctgctgctgct	2	14	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	0													22	31	28					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531C>T	9.37:g.20414313G>A			B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.S177	ENST00000380338.4	37	c.531	CCDS6494.1	9																																																																																			MLLT3	-	NULL	ENSG00000171843		0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1		0	52	0	G	NM_004529		20414313	-1			no_errors	ENST00000380338	ensembl	human	known	74_37	silent	5.26	54	3	SNP	1.000	A	A	20414313	G	A	20414313	2	1	159	1	0	0	0	0	0	0	0	1	9666	1310	46	3		3	MLLT3	9	20414313	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	15712349	20414313	120799118	99	40377											
ARID3C	138715	genome.wustl.edu	37	chr9	34627840	34627840	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcccgcttctcctcatcttCttcagcatcttcctcttcct	3	17	2	19	1	7	0	2	0	5	0	11	0	10	0	4	0	1	2	4	0	0	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:34627840C>G	ENST00000378909.2	-	1	264	c.172G>C	c.(172-174)Gaa>Caa	p.E58Q		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	58	Glu-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		tcctcatcttcttcagcatct	0.682																																																	0													28	24	26					9																	34627840		2197	4296	6493	SO:0001583	missense	0				CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.172G>C	9.37:g.34627840C>G	ENSP00000368189:p.Glu58Gln			Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E58Q	ENST00000378909.2	37	c.172	CCDS35006.1	9	.	.	.	.	.	.	.	.	.	.	c	19.38	3.815984	0.70912	.	.	ENSG00000205143	ENST00000378909	T	0.49720	0.77	4.96	4.96	0.65561	.	0.272209	0.26166	N	0.025943	T	0.39627	0.1085	N	0.24115	0.695	0.25675	N	0.985854	P	0.51240	0.943	P	0.47346	0.544	T	0.23226	-1.0194	10	0.21540	T	0.41	-8.0021	15.0507	0.71867	0.0:1.0:0.0:0.0	.	58	A6NKF2	ARI3C_HUMAN	Q	58	ENSP00000368189:E58Q	ENSP00000368189:E58Q	E	-	1	0	ARID3C	34617840	1.000000	0.71417	0.986000	0.45419	0.877000	0.50540	4.744000	0.62118	2.569000	0.86673	0.486000	0.48141	GAA	ARID3C	-	NULL	ENSG00000205143		0.682	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3C	HGNC	protein_coding	OTTHUMT00000348265.1	-	0	24	0	C	XM_071061		34627840	-1	tier1	-	no_errors	ENST00000378909	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	G	G	34627840	C	G	34627840	3	3	159	1	0	0	0	0	1	0	0	0	918	922	32	5	1093	5	ARID3C	9	34627840	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	14213527	34627840	106585591	100	40378											
TRPM3	80036	genome.wustl.edu	37	chr9	73151067	73151067	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tgtgcatatggcgcacttggCtcctctgccgagtagctgtt	5	13	12	11	2	1	0	0	0	1	0	2	1	2	0	2	2	3	6	2	2	2	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:73151067C>A	ENST00000377110.3	-	25	5169	c.4926G>T	c.(4924-4926)gaG>gaT	p.E1642D	TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1504D|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1669D|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1504D|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1491D|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1501D|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1514D|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1514D|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1501D|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1501D|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1646D			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1667					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						GCGCACTTGGCTCCTCTGCCG	0.532																																																	0													382	361	368					9																	73151067		2203	4300	6503	SO:0001583	missense	0			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.4926G>T	9.37:g.73151067C>A	ENSP00000366314:p.Glu1642Asp		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E1669D	ENST00000377110.3	37	c.5007	CCDS43835.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.10|10.10	1.256650|1.256650	0.22965|0.22965	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.55234	.|0.58;0.56;0.56;0.53;0.59;0.53;0.56;0.56;0.56;0.58	5.77|5.77	3.9|3.9	0.45041|0.45041	.|.	.|0.241491	.|0.41938	.|N	.|0.000781	T|T	0.33089|0.33089	0.0851|0.0851	L|L	0.27053|0.27053	0.805|0.805	0.37565|0.37565	D|D	0.919229|0.919229	.|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	.|0.06405	.|0.002;0.001;0.0;0.0;0.001;0.001;0.0	T|T	0.16867|0.16867	-1.0388|-1.0388	5|10	.|0.30854	.|T	.|0.27	-15.7542|-15.7542	3.771|3.771	0.08642|0.08642	0.1372:0.5906:0.1324:0.1398|0.1372:0.5906:0.1324:0.1398	.|.	.|1642;1632;1646;1504;1501;1614;1501	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	S|D	1491|1642;1514;1504;1501;1646;1501;1501;1514;1504;1669	.|ENSP00000366314:E1642D;ENSP00000366310:E1514D;ENSP00000354066:E1504D;ENSP00000366309:E1501D;ENSP00000350140:E1646D;ENSP00000386127:E1501D;ENSP00000379581:E1501D;ENSP00000379587:E1514D;ENSP00000350791:E1504D;ENSP00000389542:E1669D	.|ENSP00000350140:E1646D	A|E	-|-	1|3	0|2	TRPM3|TRPM3	72340887|72340887	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.929000|0.929000	0.56500|0.56500	1.457000|1.457000	0.35212|0.35212	0.758000|0.758000	0.33059|0.33059	0.655000|0.655000	0.94253|0.94253	GCC|GAG	TRPM3	-	NULL	ENSG00000083067		0.532	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214158.3	-	0	48	0	C	NM_206945		73151067	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	10.00	63	7	SNP	1.000	A	A	73151067	C	A	73151067	3	1	159	1	0	0	0	0	1	0	0	0	16635	796	28	3	201	3	TRPM3	9	73151067	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	38523227	73151067	68062364	101	40379											
FLJ46321	389763	genome.wustl.edu	37	chr9	84609178	84609178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggaggacagcggaatcCgtgtggcacagaagcaggag	12	5	16	8	2	0	1	0	0	0	1	1	5	1	5	1	5	2	2	1	5	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:84609178C>T	ENST00000344803.2	+	4	3840	c.3793C>T	c.(3793-3795)Cgt>Tgt	p.R1265C		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1265					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R1265S(4)									CAGCGGAATCCGTGTGGCACA	0.532																																																	4	Substitution - Missense(4)	lung(4)											111	109	110					9																	84609178		2012	4180	6192	SO:0001583	missense	0				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.3793C>T	9.37:g.84609178C>T	ENSP00000341988:p.Arg1265Cys			Missense_Mutation	SNP	NULL	p.R1265C	ENST00000344803.2	37	c.3793	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	7.678	0.688393	0.14973	.	.	ENSG00000214929	ENST00000344803	T	0.06849	3.25	3.26	2.12	0.27331	.	.	.	.	.	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	P	0.45881	0.496	T	0.36383	-0.9750	9	0.38643	T	0.18	0.0316	6.5373	0.22361	0.7291:0.2709:0.0:0.0	.	1265	Q6ZQQ2	F75D1_HUMAN	C	1265	ENSP00000341988:R1265C	ENSP00000341988:R1265C	R	+	1	0	FAM75D1	83798998	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.273000	0.08548	0.642000	0.30620	-0.262000	0.10625	CGT	SPATA31D1	-	NULL	ENSG00000214929		0.532	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	71	0	C	NM_001001670		84609178	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	80.43	9	37	SNP	0.001	T	T	84609178	C	T	84609178	3	4	159	1	0	0	0	0	1	0	0	0	5954	652	23	1	3807	1	FLJ46321	9	84609178	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	11458111	84609178	56604253	102	40380											
SHC3	53358	genome.wustl.edu	37	chr9	91653172	91653172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttaacacgggccccaaGggctggttcttgagagcatc	8	10	12	11	1	1	1	0	1	1	1	2	2	1	1	2	3	3	4	2	3	2	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:91653172G>A	ENST00000375835.4	-	11	1698	c.1392C>T	c.(1390-1392)ccC>ccT	p.P464P	SHC3_ENST00000375830.1_Silent_p.P12P|SHC3_ENST00000375831.1_Silent_p.P12P	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	464	CH1.				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						CGGGCCCCAAGGGCTGGTTCT	0.478																																																	0													69	73	71					9																	91653172		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1392C>T	9.37:g.91653172G>A			Q5T7I7|Q8TAP2|Q9UCX5	Silent	SNP	pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2	p.P464	ENST00000375835.4	37	c.1392	CCDS6681.1	9																																																																																			SHC3	-	NULL	ENSG00000148082		0.478	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC3	HGNC	protein_coding	OTTHUMT00000052986.1	-	0	57	0	G	NM_016848		91653172	-1	tier1	-	no_errors	ENST00000375835	ensembl	human	known	74_37	silent	22.95	47	14	SNP	0.000	A	A	91653172	G	A	91653172	2	1	159	1	0	0	0	0	0	0	0	1	14317	987	35	3		3	SHC3	9	91653172	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	7043994	91653172	49560259	103	40381											
ROD1	9991	genome.wustl.edu	37	chr9	114989735	114989735	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgatggtggaaagatattCtggaagtttttagagcccgg	10	12	14	5	1	1	3	0	1	1	2	1	5	1	5	1	4	1	2	1	4	4	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:114989735C>T	ENST00000374255.2	-	13	1551	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q	PTBP3_ENST00000374257.1_Silent_p.Q440Q|PTBP3_ENST00000343327.2_Silent_p.Q373Q|PTBP3_ENST00000458258.1_Silent_p.Q474Q|PTBP3_ENST00000334318.6_Silent_p.Q471Q			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	468					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GAAAGATATTCTGGAAGTTTT	0.393																																																	0													131	137	135					9																	114989735		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1404G>A	9.37:g.114989735C>T			B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.Q474	ENST00000374255.2	37	c.1422	CCDS6784.1	9																																																																																			PTBP3	-	tigrfam_HnRNP-L_PTB	ENSG00000119314		0.393	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	-	0	85	0	C			114989735	-1	tier1	-	no_errors	ENST00000458258	ensembl	human	known	74_37	silent	28.37	101	40	SNP	0.992	T	T	114989735	C	T	114989735	2	4	159	1	0	0	0	0	0	0	0	1	13564	912	32	3		3	ROD1	9	114989735	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	23336563	114989735	26223696	104	40382			1	46		7	5	149	N	C	4.379002e-14
ROD1	9991	genome.wustl.edu	37	chr9	114989791	114989791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaaggactattgctgaaatCcttagtcagaccttggtctt	11	13	8	9	0	2	2	1	1	1	1	3	3	3	3	2	2	1	1	2	2	4	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:114989791C>T	ENST00000374255.2	-	13	1495	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N	PTBP3_ENST00000374257.1_Missense_Mutation_p.D422N|PTBP3_ENST00000343327.2_Missense_Mutation_p.D355N|PTBP3_ENST00000458258.1_Missense_Mutation_p.D456N|PTBP3_ENST00000334318.6_Missense_Mutation_p.D453N			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	450					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TTGCTGAAATCCTTAGTCAGA	0.453																																																	0													139	134	136					9																	114989791		2203	4300	6503	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1348G>A	9.37:g.114989791C>T	ENSP00000363373:p.Asp450Asn		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.D456N	ENST00000374255.2	37	c.1366	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.733181	0.96856	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.61392	0.15;0.13;0.11;0.11;1.15	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.81128	0.4758	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.974;0.997;0.998;0.978;1.0	D;D;D;D;P;D	0.81914	0.993;0.951;0.993;0.995;0.894;0.995	D	0.83792	0.0231	10	0.66056	D	0.02	-9.473	19.7278	0.96172	0.0:1.0:0.0:0.0	.	422;422;355;453;450;456	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	N	422;453;456;450;355	ENSP00000363375:D422N;ENSP00000334499:D453N;ENSP00000414921:D456N;ENSP00000363373:D450N;ENSP00000340705:D355N	ENSP00000334499:D453N	D	-	1	0	ROD1	114029612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.656000	0.90262	0.591000	0.81541	GAT	PTBP3	-	tigrfam_HnRNP-L_PTB	ENSG00000119314		0.453	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	-	0	64	0	C			114989791	-1	tier1	-	no_errors	ENST00000458258	ensembl	human	known	74_37	missense	31.11	62	28	SNP	1.000	T	T	114989791	C	T	114989791	3	4	159	1	0	0	0	0	1	0	0	0	13564	855	30	3	322	3	ROD1	9	114989791	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	56	114989791	26223640	105	40383			1	46		7	5	149	N	C	4.379002e-14
ROD1	9991	genome.wustl.edu	37	chr9	114989803	114989803	+	Missense_Mutation	SNP	C	C	T																															gctgaaatccttagtcagacCttggtcttcttgtccctctc																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:114989803C>T	ENST00000374255.2	-	13	1483	c.1336G>A	c.(1336-1338)Ggt>Agt	p.G446S	PTBP3_ENST00000374257.1_Missense_Mutation_p.G418S|PTBP3_ENST00000343327.2_Missense_Mutation_p.G351S|PTBP3_ENST00000458258.1_Missense_Mutation_p.G452S|PTBP3_ENST00000334318.6_Missense_Mutation_p.G449S			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	446					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TTAGTCAGACCTTGGTCTTCT	0.453																																																	0													137	132	134					9																	114989803		2203	4300	6503	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1336G>A	9.37:g.114989803C>T	ENSP00000363373:p.Gly446Ser		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.G452S	ENST00000374255.2	37	c.1354	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.799138	0.96960	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.57595	0.41;0.4;0.39;0.4;1.42	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);	0.174982	0.48286	D	0.000200	T	0.69771	0.3148	M	0.66439	2.03	0.80722	D	1	P;B;P;P;B;B	0.47484	0.896;0.447;0.828;0.547;0.195;0.295	P;P;P;P;B;B	0.60949	0.881;0.483;0.738;0.539;0.25;0.428	T	0.64210	-0.6461	10	0.30854	T	0.27	-4.8714	19.7278	0.96172	0.0:1.0:0.0:0.0	.	418;418;351;449;446;452	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	S	418;449;452;446;351	ENSP00000363375:G418S;ENSP00000334499:G449S;ENSP00000414921:G452S;ENSP00000363373:G446S;ENSP00000340705:G351S	ENSP00000334499:G449S	G	-	1	0	ROD1	114029624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.656000	0.90262	0.591000	0.81541	GGT	PTBP3	-	tigrfam_HnRNP-L_PTB	ENSG00000119314		0.453	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	-	0	56	0	C			114989803	-1	tier1	-	no_errors	ENST00000458258	ensembl	human	known	74_37	missense	28.57	60	24	SNP	1.000	T	T	114989803	C	T	114989803	3	4	159	1	0	0	0	0	1	0	0	0	13564	681	24	3	334	3	ROD1	9	114989803	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	12	114989803	26223628	106	40384	144	2	1	46		7	5	149	N	C	4.379002e-14
ROD1	9991	genome.wustl.edu	37	chr9	114989809	114989809	+	Missense_Mutation	SNP	C	C	T																															atccttagtcagaccttggtCttcttgtccctctcgaggaa																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:114989809C>T	ENST00000374255.2	-	13	1477	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	PTBP3_ENST00000374257.1_Missense_Mutation_p.D416N|PTBP3_ENST00000343327.2_Missense_Mutation_p.D349N|PTBP3_ENST00000458258.1_Missense_Mutation_p.D450N|PTBP3_ENST00000334318.6_Missense_Mutation_p.D447N			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	444					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AGACCTTGGTCTTCTTGTCCC	0.448																																																	0													137	131	133					9																	114989809		2203	4300	6503	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1330G>A	9.37:g.114989809C>T	ENSP00000363373:p.Asp444Asn		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.D450N	ENST00000374255.2	37	c.1348	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944285	0.73672	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.59224	0.29;0.28;0.28;0.28;1.31	5.65	4.76	0.60689	Nucleotide-binding, alpha-beta plait (1);	0.051453	0.85682	D	0.000000	T	0.65059	0.2655	L	0.58354	1.805	0.58432	D	0.999992	B;B;B;P;P;B	0.47677	0.181;0.169;0.181;0.656;0.899;0.017	B;P;B;P;P;B	0.52189	0.383;0.505;0.261;0.582;0.692;0.055	T	0.66300	-0.5958	10	0.46703	T	0.11	-5.6095	14.6514	0.68800	0.0:0.9301:0.0:0.0699	.	416;416;349;447;444;450	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	N	416;447;450;444;349	ENSP00000363375:D416N;ENSP00000334499:D447N;ENSP00000414921:D450N;ENSP00000363373:D444N;ENSP00000340705:D349N	ENSP00000334499:D447N	D	-	1	0	ROD1	114029630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.784000	0.62411	1.392000	0.46585	0.591000	0.81541	GAC	PTBP3	-	tigrfam_HnRNP-L_PTB	ENSG00000119314		0.448	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	-	0	56	0	C			114989809	-1	tier1	-	no_errors	ENST00000458258	ensembl	human	known	74_37	missense	29.76	58	25	SNP	1.000	T	T	114989809	C	T	114989809	3	4	159	1	0	0	0	0	1	0	0	0	13564	913	32	3	340	3	ROD1	9	114989809	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	6	114989809	26223622	107	40385	144	2	1	46		7	5	149	N	C	4.379002e-14
ROD1	9991	genome.wustl.edu	37	chr9	114989821	114989821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttggtcttcttgtccctCtcgaggaagctgtactgctt	5	15	9	12	1	3	0	0	0	3	0	5	2	4	1	2	2	3	3	2	2	2	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:114989821C>T	ENST00000374255.2	-	13	1465	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	PTBP3_ENST00000374257.1_Missense_Mutation_p.E412K|PTBP3_ENST00000343327.2_Missense_Mutation_p.E345K|PTBP3_ENST00000458258.1_Missense_Mutation_p.E446K|PTBP3_ENST00000334318.6_Missense_Mutation_p.E443K			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	440					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TCTTGTCCCTCTCGAGGAAGC	0.448																																																	0													133	126	129					9																	114989821		2203	4300	6503	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1318G>A	9.37:g.114989821C>T	ENSP00000363373:p.Glu440Lys		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.E446K	ENST00000374255.2	37	c.1336	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	C	37	5.987807	0.97179	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.58652	3.4;3.4;0.32;3.4;1.34	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);	0.056406	0.64402	D	0.000002	T	0.78735	0.4330	M	0.83223	2.63	0.80722	D	1	P;D;D;P;D;P	0.59357	0.919;0.978;0.969;0.739;0.985;0.753	P;D;P;P;P;P	0.67103	0.867;0.949;0.857;0.606;0.867;0.696	T	0.80261	-0.1456	10	0.59425	D	0.04	-6.0022	19.7278	0.96172	0.0:1.0:0.0:0.0	.	412;412;345;443;440;446	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	K	412;443;446;440;345	ENSP00000363375:E412K;ENSP00000334499:E443K;ENSP00000414921:E446K;ENSP00000363373:E440K;ENSP00000340705:E345K	ENSP00000334499:E443K	E	-	1	0	ROD1	114029642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.052000	0.71080	2.656000	0.90262	0.591000	0.81541	GAG	PTBP3	-	tigrfam_HnRNP-L_PTB	ENSG00000119314		0.448	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	-	0	52	0	C			114989821	-1	tier1	-	no_errors	ENST00000458258	ensembl	human	known	74_37	missense	30.49	57	25	SNP	1.000	T	T	114989821	C	T	114989821	3	4	159	1	0	0	0	0	1	0	0	0	13564	922	32	3	352	3	ROD1	9	114989821	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	12	114989821	26223610	108	40386			1	46		7	5	149	N	C	4.379002e-14
ROD1	9991	genome.wustl.edu	37	chr9	114989874	114989874	+	Missense_Mutation	SNP	C	C	A																															gtgtagcacgaagcactttcCcataaagtctctgaccactt																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:114989874C>A	ENST00000374255.2	-	13	1412	c.1265G>T	c.(1264-1266)gGg>gTg	p.G422V	PTBP3_ENST00000374257.1_Missense_Mutation_p.G394V|PTBP3_ENST00000343327.2_Missense_Mutation_p.G327V|PTBP3_ENST00000458258.1_Missense_Mutation_p.G428V|PTBP3_ENST00000334318.6_Missense_Mutation_p.G425V			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	422	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AAGCACTTTCCCATAAAGTCT	0.413																																																	0													107	102	104					9																	114989874		2203	4300	6503	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1265G>T	9.37:g.114989874C>A	ENSP00000363373:p.Gly422Val		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.G428V	ENST00000374255.2	37	c.1283	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.127086	0.94429	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.68624	2.57;2.57;-0.34;2.57;0.69	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.89787	0.6816	H	0.98407	4.225	0.80722	D	1	D;P;D;D;D;P	0.89917	0.999;0.925;0.964;1.0;0.994;0.901	D;P;D;D;D;P	0.97110	0.99;0.908;0.944;1.0;0.941;0.85	D	0.93367	0.6732	10	0.87932	D	0	-3.4656	19.7278	0.96172	0.0:1.0:0.0:0.0	.	394;394;327;425;422;428	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	V	394;425;428;422;327	ENSP00000363375:G394V;ENSP00000334499:G425V;ENSP00000414921:G428V;ENSP00000363373:G422V;ENSP00000340705:G327V	ENSP00000334499:G425V	G	-	2	0	ROD1	114029695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.656000	0.90262	0.591000	0.81541	GGG	PTBP3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000119314		0.413	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	-	0	46	0	C			114989874	-1	tier1	-	no_errors	ENST00000458258	ensembl	human	known	74_37	missense	24.24	50	16	SNP	1.000	A	A	114989874	C	A	114989874	3	1	159	1	0	0	0	0	1	0	0	0	13564	623	22	3	405	3	ROD1	9	114989874	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	53	114989874	26223557	109	40387	145	2	1	46		7	5	149	N	C	4.379002e-14
ROD1	9991	genome.wustl.edu	37	chr9	114989883	114989883	+	Missense_Mutation	SNP	C	C	T																															gaagcactttcccataaagtCtctgaccacttagatggttc																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:114989883C>T	ENST00000374255.2	-	13	1403	c.1256G>A	c.(1255-1257)aGa>aAa	p.R419K	PTBP3_ENST00000374257.1_Missense_Mutation_p.R391K|PTBP3_ENST00000343327.2_Missense_Mutation_p.R324K|PTBP3_ENST00000458258.1_Missense_Mutation_p.R425K|PTBP3_ENST00000334318.6_Missense_Mutation_p.R422K			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	419	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCCATAAAGTCTCTGACCACT	0.408																																																	0													97	93	95					9																	114989883		2203	4300	6503	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1256G>A	9.37:g.114989883C>T	ENSP00000363373:p.Arg419Lys		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.R425K	ENST00000374255.2	37	c.1274	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	C	7.992	0.753499	0.15778	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.52754	3.47;3.47;0.65;3.47;1.66	5.65	4.76	0.60689	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	N	0.10972	0.075	0.46586	D	0.999116	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.10450	0.004;0.003;0.004;0.005;0.004;0.001	T	0.11372	-1.0590	10	0.02654	T	1	-6.64	10.8669	0.46860	0.0:0.8029:0.0:0.1971	.	391;391;324;422;419;425	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	K	391;422;425;419;324	ENSP00000363375:R391K;ENSP00000334499:R422K;ENSP00000414921:R425K;ENSP00000363373:R419K;ENSP00000340705:R324K	ENSP00000334499:R422K	R	-	2	0	ROD1	114029704	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	1.723000	0.38053	1.386000	0.46466	0.591000	0.81541	AGA	PTBP3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000119314		0.408	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	-	0	48	0	C			114989883	-1	tier1	-	no_errors	ENST00000458258	ensembl	human	known	74_37	missense	23.08	50	15	SNP	0.999	T	T	114989883	C	T	114989883	3	4	159	1	0	0	0	0	1	0	0	0	13564	913	32	3	414	3	ROD1	9	114989883	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	9	114989883	26223548	110	40388	145	2	1	46		7	5	149	N	C	4.379002e-14
PRRX2	51450	genome.wustl.edu	37	chr9	132481697	132481697	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcgaggcgcgcgttcaGgtgagcgctcagtcccgggc	5	6	16	14	6	3	1	3	1	0	0	4	2	4	1	1	3	2	2	1	3	0	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:132481697G>A	ENST00000372469.4	+	2	674	c.447G>A	c.(445-447)caG>caA	p.Q149Q	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	149					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CGCGCGTTCAGGTGAGCGCTC	0.687																																																	0													9	9	9					9																	132481697		2062	4018	6080	SO:0001630	splice_region_variant	0			AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"Homeoboxes / PRD class"	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.447+1G>A	9.37:g.132481697G>A			Q5SZB5|Q9UIB3	Silent	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.Q149	ENST00000372469.4	37	c.447	CCDS6926.1	9	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277187	0.40294	.	.	ENSG00000167157	ENST00000557730	.	.	.	4.01	3.09	0.35607	.	.	.	.	.	T	0.59838	0.2223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56420	-0.7982	4	.	.	.	.	10.2559	0.43397	0.1003:0.0:0.8997:0.0	.	.	.	.	K	64	.	.	R	+	2	0	PRRX2	131521518	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	7.528000	0.81941	1.013000	0.39391	0.561000	0.74099	AGG	PRRX2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000167157		0.687	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX2	HGNC	protein_coding	OTTHUMT00000054598.2	-	0	20	0	G	NM_016307	Silent	132481697	1	tier1	-	no_errors	ENST00000372469	ensembl	human	known	74_37	silent	33.33	18	9	SNP	1.000	A	A	132481697	G	A	132481697	5	1	159	1	0	0	0	0	0	0	1	0	12655	1014	35	3	453	3	PRRX2	9	132481697	Splice_Site	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	17491814	132481697	8731734	111	40389											
LAMC3	10319	genome.wustl.edu	37	chr9	133932371	133932371	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggccagggctttccccGccagcctcctgggtggagat	4	7	14	16	2	0	1	0	0	0	1	2	2	2	1	7	4	1	1	7	4	0	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:133932371G>A	ENST00000361069.4	+	12	2128	c.1995G>A	c.(1993-1995)ccG>ccA	p.P665P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	665	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGCTTTCCCCGCCAGCCTCCT	0.617																																																	0													69	76	74					9																	133932371		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1995G>A	9.37:g.133932371G>A			B1APX9|B1APY0|Q59H72	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.P665	ENST00000361069.4	37	c.1995	CCDS6938.1	9																																																																																			LAMC3	-	pfam_Laminin_B_type_IV,smart_EGF_laminin,pfscan_Laminin_B_type_IV	ENSG00000050555		0.617	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	-	0	35	0	G	NM_006059		133932371	1	tier1	-	no_errors	ENST00000361069	ensembl	human	known	74_37	silent	27.03	27	10	SNP	0.000	A	A	133932371	G	A	133932371	2	1	159	1	0	0	0	0	0	0	0	1	8644	1074	38	1		1	LAMC3	9	133932371	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	1450674	133932371	7281060	112	40390											
SEC16A	9919	genome.wustl.edu	37	chr9	139338310	139338310	+	Frame_Shift_Del	DEL	C	C	-																															agggttgtagaagggcatggCcccgctgggagggccccctg																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:139338310delC	ENST00000371706.3	-	27	6334	c.6301delG	c.(6301-6303)gccfs	p.A2101fs	SEC16A_ENST00000431893.2_Frame_Shift_Del_p.A2121fs|SEC16A_ENST00000290037.6_Frame_Shift_Del_p.A2126fs|SEC16A_ENST00000313084.5_Frame_Shift_Del_p.A352fs|SEC16A_ENST00000467838.1_5'UTR|SEC16A_ENST00000313050.7_Frame_Shift_Del_p.A2324fs			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2146	Pro-rich.|Required for interaction with SEC23A.			S -> P (in Ref. 6; AAH28183). {ECO:0000305}.	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)		AAGGGCATGGCCCCGCTGGGA	0.632																																																	0													56	66	63					9																	139338310		2092	4222	6314	SO:0001589	frameshift_variant	0			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.6301delG	9.37:g.139338310delC	ENSP00000360771:p.Ala2101fs		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Frame_Shift_Del	DEL	NULL	p.A2324fs	ENST00000371706.3	37	c.6970		9																																																																																			SEC16A	-	NULL	ENSG00000148396		0.632	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1		0	18	0	C	XM_088459		139338310	-1	tier1		no_errors	ENST00000313050	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	0.003	-	-	139338310	C	-	139338310	7	5	159	1	0	1	0	1	0	0	0	0	14031	739	26	0	111	0	SEC16A	9	139338310	Frame_Shift_Del	DEL	C	TCGA-V5-AASW-01A-11D-A403-09	5405939	139338310	1875121	113	40391											
SEC16A	9919	genome.wustl.edu	37	chr9	139370297	139370297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggggggctcggggttgaggGctgggacacgctgccacggt	4	6	21	10	4	0	1	0	1	0	0	1	2	0	2	1	8	1	4	1	8	0	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:139370297G>A	ENST00000371706.3	-	1	1270	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	SEC16A_ENST00000431893.2_Missense_Mutation_p.P413S|SEC16A_ENST00000290037.6_Missense_Mutation_p.P413S|SEC16A_ENST00000313050.7_Missense_Mutation_p.P591S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	413					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)		GGGGTTGAGGGCTGGGACACG	0.473																																																	0													27	31	29					9																	139370297		2105	4238	6343	SO:0001583	missense	0			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.1237C>T	9.37:g.139370297G>A	ENSP00000360771:p.Pro413Ser		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.P591S	ENST00000371706.3	37	c.1771		9	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997184	0.74818	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.43294	0.98;0.97;0.95;0.96	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.989;0.995;0.995;0.984	T	0.65747	-0.6093	10	0.72032	D	0.01	-24.1639	18.9654	0.92694	0.0:0.0:1.0:0.0	.	591;413;413;218	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	S	591;413;413;413;218	ENSP00000325827:P591S;ENSP00000360771:P413S;ENSP00000290037:P413S;ENSP00000387583:P413S	ENSP00000290037:P413S	P	-	1	0	SEC16A	138490118	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	5.124000	0.64709	2.800000	0.96347	0.655000	0.94253	CCC	SEC16A	-	NULL	ENSG00000148396		0.473	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	-	0	56	0	G	XM_088459		139370297	-1	tier1	-	no_errors	ENST00000313050	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	139370297	G	A	139370297	3	1	159	1	0	0	0	0	1	0	0	0	14031	1203	42	3	5422	3	SEC16A	9	139370297	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	31987	139370297	1843134	114	40392											
EGFL7	51162	genome.wustl.edu	37	chr9	139562807	139562807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcacagagcacgcctacCggcccgggtgagccaagccc	8	2	14	17	4	0	2	0	1	0	1	0	2	0	2	5	3	4	2	5	3	2	1	rs372445708		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:139562807C>T	ENST00000371699.1	+	3	984	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	EGFL7_ENST00000308874.7_Missense_Mutation_p.R25W|EGFL7_ENST00000371698.3_Missense_Mutation_p.R25W|EGFL7_ENST00000406555.3_Missense_Mutation_p.R25W|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000492002.1_Intron			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	25					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)		GCACGCCTACCGGCCCGGGTG	0.697																																																	0								C	TRP/ARG,TRP/ARG	1,4363		0,1,2181	26	26	26		73,73	-0.3	0.7	9		26	0,8584		0,0,4292	no	missense,missense	EGFL7	NM_016215.4,NM_201446.2	101,101	0,1,6473	TT,TC,CC		0.0,0.0229,0.0077	probably-damaging,probably-damaging	25/274,25/274	139562807	1,12947	2182	4292	6474	SO:0001583	missense	0			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.73C>T	9.37:g.139562807C>T	ENSP00000360764:p.Arg25Trp		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	pfam_EMI_domain,pfam_EGF-like_Ca-bd_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_EMI_domain	p.R25W	ENST00000371699.1	37	c.73	CCDS7002.1	9	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609904	0.28712	2.29E-4	0.0	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	4.29	-0.266	0.12942	.	0.404744	0.26605	N	0.023443	D	0.83778	0.5328	M	0.65498	2.005	0.32912	D	0.514594	D	0.71674	0.998	P	0.49387	0.609	D	0.84005	0.0345	10	0.87932	D	0	-21.8943	7.7344	0.28806	0.4712:0.3842:0.1446:0.0	.	25	Q9UHF1	EGFL7_HUMAN	W	25	ENSP00000360764:R25W;ENSP00000307843:R25W;ENSP00000385639:R25W;ENSP00000360763:R25W	ENSP00000307843:R25W	R	+	1	2	EGFL7	138682628	0.000000	0.05858	0.703000	0.30354	0.025000	0.11179	-0.886000	0.04157	-0.253000	0.09514	0.448000	0.29417	CGG	EGFL7	-	NULL	ENSG00000172889		0.697	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFL7	HGNC	protein_coding	OTTHUMT00000055094.1	-	0	86	0	C	NM_016215		139562807	1	tier1	-	no_errors	ENST00000308874	ensembl	human	known	74_37	missense	12.50	70	10	SNP	0.466	T	T	139562807	C	T	139562807	3	4	159	1	0	0	0	0	1	0	0	0	4978	643	23	1	75	1	EGFL7	9	139562807	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	192510	139562807	1650624	115	40393											
EGFL7	51162	genome.wustl.edu	37	chr9	139564780	139564780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	cagggtggcccccaacccgaCaggtaaacagccctggctgt	9	5	12	15	1	0	0	0	0	0	0	0	1	0	0	4	4	3	2	4	4	3	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr9:139564780C>T	ENST00000371699.1	+	7	1480	c.569C>T	c.(568-570)aCa>aTa	p.T190I	EGFL7_ENST00000308874.7_Missense_Mutation_p.T190I|EGFL7_ENST00000371698.3_Missense_Mutation_p.T190I|EGFL7_ENST00000406555.3_Missense_Mutation_p.T190I|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000492002.1_3'UTR			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	190					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)		CCCAACCCGACAGGTAAACAG	0.667																																																	0													8	10	9					9																	139564780		2135	4227	6362	SO:0001583	missense	0			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.569C>T	9.37:g.139564780C>T	ENSP00000360764:p.Thr190Ile		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	pfam_EMI_domain,pfam_EGF-like_Ca-bd_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_EMI_domain	p.T190I	ENST00000371699.1	37	c.569	CCDS7002.1	9	.	.	.	.	.	.	.	.	.	.	C	3.859	-0.030339	0.07543	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	3.84	1.92	0.25849	.	2.407100	0.01314	N	0.010701	T	0.81574	0.4851	L	0.51422	1.61	0.26136	N	0.980345	B	0.26318	0.146	B	0.18871	0.023	T	0.62086	-0.6928	10	0.31617	T	0.26	0.0425	8.0612	0.30633	0.3206:0.5237:0.1556:0.0	.	190	Q9UHF1	EGFL7_HUMAN	I	190	ENSP00000360764:T190I;ENSP00000307843:T190I;ENSP00000385639:T190I;ENSP00000360763:T190I	ENSP00000307843:T190I	T	+	2	0	EGFL7	138684601	0.985000	0.35326	0.534000	0.28014	0.055000	0.15305	1.688000	0.37690	0.546000	0.28920	0.561000	0.74099	ACA	EGFL7	-	NULL	ENSG00000172889		0.667	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFL7	HGNC	protein_coding	OTTHUMT00000055094.1	-	0	36	0	C	NM_016215		139564780	1	tier1	-	no_errors	ENST00000308874	ensembl	human	known	74_37	missense	56.41	17	22	SNP	0.445	T	T	139564780	C	T	139564780	3	4	159	1	0	0	0	0	1	0	0	0	4978	478	17	3	587	3	EGFL7	9	139564780	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	1973	139564780	1648651	116	40394											
CELF2	10659	genome.wustl.edu	37	chr10	11356187	11356187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaggactggctggagcCactgttggactgaataatat	11	10	12	8	0	0	1	0	1	0	0	0	4	0	4	1	4	2	3	1	4	4	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr10:11356187C>T	ENST00000379261.4	+	10	1133	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	CELF2_ENST00000417956.2_Silent_p.A323A|CELF2_ENST00000354897.3_Silent_p.A323A|CELF2_ENST00000537122.1_Silent_p.A236A|CELF2_ENST00000542579.1_Silent_p.A354A|CELF2_ENST00000608830.1_Silent_p.A323A|CELF2_ENST00000399850.3_Silent_p.A323A|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000427450.1_Silent_p.A323A|CELF2_ENST00000354440.2_Silent_p.A323A|CELF2_ENST00000450189.1_Silent_p.A354A|CELF2_ENST00000416382.2_Silent_p.A347A|CELF2_ENST00000609692.1_Silent_p.A323A|CELF2_ENST00000315874.4_Silent_p.A323A	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	347	Ala-rich.				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						TGGCTGGAGCCACTGTTGGAC	0.498																																																	0													84	83	83					10																	11356187		1936	4139	6075	SO:0001819	synonymous_variant	0			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.1041C>T	10.37:g.11356187C>T			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.A354	ENST00000379261.4	37	c.1062	CCDS44354.1	10																																																																																			CELF2	-	NULL	ENSG00000048740		0.498	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		-	0	48	0	C			11356187	1	tier1	-	no_errors	ENST00000450189	ensembl	human	known	74_37	silent	31.71	28	13	SNP	1.000	T	T	11356187	C	T	11356187	2	4	159	1	0	0	0	0	0	0	0	1	3223	581	21	3		3	CELF2	10	11356187	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		11356187	124178560	117	40395											
KIAA1462	57608	genome.wustl.edu	37	chr10	30315895	30315895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagacccctctagctcactgGcaccctgttcttgcccaggg	7	9	9	16	0	3	1	1	0	2	1	3	1	3	1	4	2	2	3	4	2	2	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr10:30315895G>T	ENST00000375377.1	-	3	3283	c.3182C>A	c.(3181-3183)gCc>gAc	p.A1061D		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1061					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						TAGCTCACTGGCACCCTGTTC	0.597																																																	0													150	149	149					10																	30315895		1924	4123	6047	SO:0001583	missense	0			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.3182C>A	10.37:g.30315895G>T	ENSP00000364526:p.Ala1061Asp		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.A1061D	ENST00000375377.1	37	c.3182	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219332	0.58560	.	.	ENSG00000165757	ENST00000375377	T	0.18016	2.24	5.09	3.19	0.36642	.	0.765317	0.12548	N	0.459347	T	0.26085	0.0636	M	0.61703	1.905	0.09310	N	1	D	0.58268	0.982	P	0.52481	0.7	T	0.11060	-1.0603	10	0.59425	D	0.04	-1.7321	5.7943	0.18377	0.0742:0.1377:0.6455:0.1426	.	1061	Q9P266	K1462_HUMAN	D	1061	ENSP00000364526:A1061D	ENSP00000364526:A1061D	A	-	2	0	KIAA1462	30355901	0.003000	0.15002	0.001000	0.08648	0.014000	0.08584	1.226000	0.32563	0.625000	0.30304	0.462000	0.41574	GCC	KIAA1462	-	NULL	ENSG00000165757		0.597	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1		0	21	0	G	NM_020848		30315895	-1			no_errors	ENST00000375377	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.002	T	T	30315895	G	T	30315895	3	4	159	1	0	0	0	0	1	0	0	0	8261	1203	42	3	905	3	KIAA1462	10	30315895	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	18959708	30315895	105218852	118	40396											
EPC1	80314	genome.wustl.edu	37	chr10	32560606	32560606	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtatatgtcgtgcatttaTtggggcaatagagtttacag	11	14	12	4	1	0	1	0	0	0	1	1	1	0	1	0	3	2	4	0	3	6	8			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr10:32560606T>C	ENST00000263062.8	-	14	2583	c.2314A>G	c.(2314-2316)Ata>Gta	p.I772V	RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000375110.2_Missense_Mutation_p.I699V|EPC1_ENST00000319778.6_Missense_Mutation_p.I749V	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	772					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)				CGTGCATTTATTGGGGCAATA	0.443																																																	0													220	202	208					10																	32560606		2203	4300	6503	SO:0001583	missense	0			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.2314A>G	10.37:g.32560606T>C	ENSP00000263062:p.Ile772Val		B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.I772V	ENST00000263062.8	37	c.2314	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	T	9.894	1.205011	0.22205	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.24	1.35	0.21983	.	0.342180	0.29040	N	0.013334	T	0.14141	0.0342	N	0.11427	0.14	0.22562	N	0.998986	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.21280	-1.0250	9	0.12766	T	0.61	-4.3379	4.2956	0.10899	0.1091:0.0944:0.5553:0.2412	.	699;749;772	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	V	699;749;772	.	ENSP00000263062:I772V	I	-	1	0	EPC1	32600612	0.998000	0.40836	0.982000	0.44146	0.946000	0.59487	2.626000	0.46460	0.378000	0.24764	0.254000	0.18369	ATA	EPC1	-	pfam_Enhancer_polycomb_C	ENSG00000120616		0.443	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	-	0	64	0	T			32560606	-1	tier1	-	no_errors	ENST00000263062	ensembl	human	known	74_37	missense	31.75	86	40	SNP	0.983	C	C	32560606	T	C	32560606	3	2	159	1	0	0	0	0	1	0	0	0	5176	1493	52	4	204	4	EPC1	10	32560606	Missense_Mutation	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	2244711	32560606	102974141	119	40397											
ANK3	288	genome.wustl.edu	37	chr10	61842444	61842444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtccttttgttgtctttgGttctttcagaaaagacagac	9	16	8	8	0	3	3	1	0	2	3	4	3	4	3	1	1	0	2	1	1	2	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr10:61842444G>T	ENST00000280772.2	-	34	4443	c.4252C>A	c.(4252-4254)Cca>Aca	p.P1418T	ANK3_ENST00000503366.1_Missense_Mutation_p.P1419T|ANK3_ENST00000373827.2_Missense_Mutation_p.P1412T|Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000355288.2_Missense_Mutation_p.P552T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1418				P -> R (in Ref. 1; AAA64834). {ECO:0000305}.	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						GTTGTCTTTGGTTCTTTCAGA	0.388																																																	0													145	143	143					10																	61842444		2203	4300	6503	SO:0001583	missense	0			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.4252C>A	10.37:g.61842444G>T	ENSP00000280772:p.Pro1418Thr		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.P1418T	ENST00000280772.2	37	c.4252	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188754	0.78789	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304	T;T;D;T;T	0.89343	1.76;1.76;-2.5;1.76;1.76	5.89	3.99	0.46301	.	0.367060	0.19820	N	0.105328	D	0.93347	0.7879	M	0.74647	2.275	0.80722	D	1	B;P;D;D;D;D	0.89917	0.137;0.944;0.985;0.986;1.0;0.998	B;P;P;P;D;D	0.76071	0.065;0.585;0.754;0.573;0.987;0.987	D	0.92710	0.6182	10	0.72032	D	0.01	.	11.5376	0.50648	0.0673:0.126:0.8067:0.0	.	1419;552;1412;1418;653;552	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;ANK3_HUMAN;.;.	T	1418;1412;1;552;552;1419;1398;653;1053;1053	ENSP00000280772:P1418T;ENSP00000362933:P1412T;ENSP00000362926:P1T;ENSP00000347436:P552T;ENSP00000425236:P1419T	ENSP00000280772:P1418T	P	-	1	0	ANK3	61512450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.606000	0.67641	0.792000	0.33850	0.557000	0.71058	CCA	ANK3	-	NULL	ENSG00000151150		0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0	66	0	G	NM_020987		61842444	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	61842444	G	T	61842444	3	4	159	1	0	0	0	0	1	0	0	0	622	1261	44	3	9234	3	ANK3	10	61842444	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	29281838	61842444	73692303	120	40398											
ZNF365	22891	genome.wustl.edu	37	chr10	64429984	64429984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggcaaattgacaatcatcGatttgttgactgaacacctg	13	12	8	8	1	1	3	1	3	0	0	2	4	1	3	1	1	1	2	1	1	4	4	rs371278525		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr10:64429984G>A	ENST00000395251.1	+	7	908	c.574G>A	c.(574-576)Gat>Aat	p.D192N	ZNF365_ENST00000395249.1_Missense_Mutation_p.D44N|ZNF365_ENST00000410046.3_Missense_Mutation_p.D438N	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	192										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)					GACAATCATCGATTTGTTGAC	0.438																																																	0													266	263	264					10																	64429984		2203	4300	6503	SO:0001583	missense	0			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.574G>A	10.37:g.64429984G>A	ENSP00000378672:p.Asp192Asn			Missense_Mutation	SNP	NULL	p.D438N	ENST00000395251.1	37	c.1312	CCDS7265.1	10	.	.	.	.	.	.	.	.	.	.	G	7.641	0.680823	0.14907	.	.	ENSG00000138311	ENST00000410046;ENST00000395251;ENST00000395249	T	0.56103	0.48	2.97	-5.94	0.02247	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	P;P	0.45474	0.574;0.859	B;B	0.26202	0.063;0.067	T	0.29181	-1.0020	9	0.87932	D	0	.	3.9872	0.09521	0.2296:0.0948:0.5184:0.1572	.	192;438	Q70YC4;Q70YC5-3	TALAN_HUMAN;.	N	438;192;44	ENSP00000378672:D192N	ENSP00000378670:D44N	D	+	1	0	ZNF365	64099990	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.481000	0.02323	-2.211000	0.00737	-2.814000	0.00110	GAT	ZNF365	-	NULL	ENSG00000138311		0.438	ZNF365-006	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000277036.1	-	0	39	0	G	NM_014951		64429984	1	tier1	-	no_errors	ENST00000410046	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.000	A	A	64429984	G	A	64429984	3	1	159	1	0	0	0	0	1	0	0	0	17917	1058	37	1	2074	1	ZNF365	10	64429984	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	2587540	64429984	71104763	121	40399											
SEC24C	9632	genome.wustl.edu	37	chr10	75526866	75526866	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatccctgcccattgcaGaggccccagggaaactgaag	12	6	10	13	0	0	2	0	1	0	1	1	3	1	3	4	2	4	1	4	2	3	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr10:75526866G>T	ENST00000339365.2	+	15	2110	c.1948G>T	c.(1948-1950)Gag>Tag	p.E650*	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Nonsense_Mutation_p.E531*|SEC24C_ENST00000345254.4_Nonsense_Mutation_p.E650*|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	650					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)					GCCCATTGCAGAGGCCCCAGG	0.468																																																	0													90	88	88					10																	75526866		2203	4300	6503	SO:0001587	stop_gained	0			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.1948G>T	10.37:g.75526866G>T	ENSP00000343405:p.Glu650*		B4DZT4|Q8WV25	Nonsense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.E650*	ENST00000339365.2	37	c.1948	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	G	38	6.773123	0.97829	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	.	.	.	5.57	5.57	0.84162	.	0.043342	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-12.8558	19.6032	0.95572	0.0:0.0:1.0:0.0	.	.	.	.	X	650;650;531	.	ENSP00000343405:E650X	E	+	1	0	SEC24C	75196872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.643000	0.89663	0.555000	0.69702	GAG	SEC24C	-	pfam_Sec23/24_trunk_dom	ENSG00000176986		0.468	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	-	0	25	0	G			75526866	1	tier1	-	no_errors	ENST00000339365	ensembl	human	known	74_37	nonsense	14.29	18	3	SNP	1.000	T	T	75526866	G	T	75526866	4	4	159	1	0	0	0	0	0	1	0	0	14041	943	33	3	1998	3	SEC24C	10	75526866	Nonsense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	11096882	75526866	60007881	122	40400											
C10orf28	27291	genome.wustl.edu	37	chr10	99968341	99968341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaactacggatgtgacagGacatgagaggatacttcttt	13	11	11	6	1	1	3	0	3	1	1	1	7	1	6	0	3	3	0	0	3	3	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr10:99968341G>A	ENST00000298999.3	+	5	773	c.470G>A	c.(469-471)gGa>gAa	p.G157E	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.G157E|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	157							nucleotide binding (GO:0000166)										GATGTGACAGGACATGAGAGG	0.438																																																	0													88	91	90					10																	99968341		2203	4300	6503	SO:0001583	missense	0			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.470G>A	10.37:g.99968341G>A	ENSP00000298999:p.Gly157Glu		O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	NULL	p.G157E	ENST00000298999.3	37	c.470	CCDS31267.1	10	.	.	.	.	.	.	.	.	.	.	G	3.092	-0.186692	0.06340	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.09723	2.95;2.95	5.61	-1.06	0.10002	.	0.835654	0.10646	N	0.650438	T	0.12178	0.0296	M	0.71581	2.175	0.09310	N	0.999993	B;B	0.32203	0.36;0.36	B;B	0.34385	0.181;0.139	T	0.27673	-1.0067	9	.	.	.	-3.9194	5.298	0.15762	0.3918:0.0:0.4783:0.1299	.	157;157	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	E	157	ENSP00000359616:G157E;ENSP00000298999:G157E	.	G	+	2	0	C10orf28	99958331	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.411000	0.02478	-0.073000	0.12842	-0.136000	0.14681	GGA	R3HCC1L	-	NULL	ENSG00000166024		0.438	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	R3HCC1L	HGNC	protein_coding	OTTHUMT00000049764.1	-	0	32	0	G	NM_014472		99968341	1	tier1	-	no_errors	ENST00000370584	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.001	A	A	99968341	G	A	99968341	3	1	159	1	0	0	0	0	1	0	0	0	1606	1174	41	3	472	3	C10orf28	10	99968341	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	24441475	99968341	35566406	123	40401											
SHOC2	8036	genome.wustl.edu	37	chr10	112769572	112769572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagagaacctacttactcaCcttcctgaagaaattggtat	13	11	8	9	0	1	3	1	1	0	2	2	5	2	4	3	2	3	1	3	2	6	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr10:112769572C>A	ENST00000369452.4	+	8	1869	c.1524C>A	c.(1522-1524)caC>caA	p.H508Q	SHOC2_ENST00000265277.5_Missense_Mutation_p.H462Q|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	508					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TACTTACTCACCTTCCTGAAG	0.398																																																	0													102	90	94					10																	112769572		2203	4300	6503	SO:0001583	missense	0			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1524C>A	10.37:g.112769572C>A	ENSP00000358464:p.His508Gln		A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.H508Q	ENST00000369452.4	37	c.1524	CCDS7568.1	10	.	.	.	.	.	.	.	.	.	.	C	9.522	1.108523	0.20714	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.57907	0.37;0.37;0.37	5.75	3.45	0.39498	.	0.087086	0.85682	N	0.000000	T	0.28599	0.0708	N	0.12471	0.22	0.51012	D	0.999906	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.04579	-1.0941	10	0.25751	T	0.34	.	5.1977	0.15246	0.0:0.2452:0.1436:0.6112	.	462;508	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	Q	462;508;298	ENSP00000265277:H462Q;ENSP00000358464:H508Q;ENSP00000408275:H298Q	ENSP00000265277:H462Q	H	+	3	2	SHOC2	112759562	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.016000	0.29976	0.460000	0.27045	-0.482000	0.04802	CAC	SHOC2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000108061		0.398	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	-	0	57	0	C	NM_007373		112769572	1	tier1	-	no_errors	ENST00000369452	ensembl	human	known	74_37	missense	58.49	22	31	SNP	1.000	A	A	112769572	C	A	112769572	3	1	159	1	0	0	0	0	1	0	0	0	14332	506	18	3	1550	3	SHOC2	10	112769572	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	12801231	112769572	22765175	124	40402											
RASSF7	8045	genome.wustl.edu	37	chr11	562466	562466	+	Missense_Mutation	SNP	A	A	G	1	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	gaatgctgaggagctgggccAtgaggccttctgggagcaag	9	7	17	8	0	1	2	0	2	1	0	1	5	1	4	2	4	3	3	2	4	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:562466A>G	ENST00000397583.3	+	3	945	c.512A>G	c.(511-513)cAt>cGt	p.H171R	RASSF7_ENST00000454668.2_Missense_Mutation_p.H171R|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000431809.1_Missense_Mutation_p.H171R|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_Missense_Mutation_p.H171R|RASSF7_ENST00000344375.4_Missense_Mutation_p.H171R|C11orf35_ENST00000329451.3_5'Flank	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	171					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGCTGGGCCATGAGGCCTTC	0.697																																					Pancreas(184;1170 3913 7268)												0													16	15	16					11																	562466		2017	3967	5984	SO:0001583	missense	0			M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.512A>G	11.37:g.562466A>G	ENSP00000380713:p.His171Arg		G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.H171R	ENST00000397583.3	37	c.512	CCDS7702.1	11	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486332	0.26686	.	.	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09	3.52	3.52	0.40303	.	0.380196	0.26757	N	0.022646	D	0.85995	0.5827	L	0.34521	1.04	0.34173	D	0.670057	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.002;0.002;0.002	D	0.84392	0.0555	10	0.24483	T	0.36	.	12.2365	0.54518	1.0:0.0:0.0:0.0	.	171;171;171	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	R	171	ENSP00000403068:H171R;ENSP00000380712:H171R;ENSP00000344226:H171R;ENSP00000380713:H171R;ENSP00000405606:H171R	ENSP00000344226:H171R	H	+	2	0	RASSF7	552466	0.977000	0.34250	0.997000	0.53966	0.848000	0.48234	3.503000	0.53340	1.489000	0.48450	0.379000	0.24179	CAT	RASSF7	-	NULL	ENSG00000099849		0.697	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF7	HGNC	protein_coding	OTTHUMT00000254972.2	-	0	49	0	A	NM_003475		562466	1	tier1	-	no_errors	ENST00000344375	ensembl	human	known	74_37	missense	33.33	22	11	SNP	0.989	G	G	562466	A	G	562466	3	3	159	1	0	0	0	0	1	0	0	0	13136	217	8	4	518	4	RASSF7	11	562466	Missense_Mutation	SNP	A	TCGA-V5-AASW-01A-11D-A403-09		562466	134444050	125	40403											
OR52L1	338751	genome.wustl.edu	37	chr11	6007249	6007249	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatagacaagaggattgagCgcaggtggcatgaggagata	14	6	15	6	1	0	5	0	2	0	3	0	7	0	6	1	4	1	2	1	4	3	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:6007249C>T	ENST00000332249.4	-	1	966	c.912G>A	c.(910-912)gcG>gcA	p.A304A		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A289A(2)|p.A304A(1)		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)		GAGGATTGAGCGCAGGTGGCA	0.473																																					Melanoma(121;653 1666 10547 22796 51255)												3	Substitution - coding silent(3)	endometrium(2)|large_intestine(1)											66	67	67					11																	6007249		2073	4230	6303	SO:0001819	synonymous_variant	0			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.912G>A	11.37:g.6007249C>T			B2RPA6|Q6IFK9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A304	ENST00000332249.4	37	c.912	CCDS44529.1	11																																																																																			OR52L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000183313		0.473	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	HGNC	protein_coding	OTTHUMT00000383754.1	-	0	61	0	C	NM_001005173		6007249	-1	tier1	-	no_errors	ENST00000332249	ensembl	human	known	74_37	silent	21.28	37	10	SNP	0.004	T	T	6007249	C	T	6007249	2	4	159	1	0	0	0	0	0	0	0	1	11164	755	27	1		1	OR52L1	11	6007249	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	5444783	6007249	128999267	126	40404											
OR10A5	144124	genome.wustl.edu	37	chr11	6867574	6867574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgatcttgtgttcctatactCgcattgctgctgctatcctc	5	17	7	12	1	1	1	0	1	1	0	5	1	3	1	2	0	4	5	2	0	3	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:6867574C>G	ENST00000299454.4	+	1	692	c.661C>G	c.(661-663)Cgc>Ggc	p.R221G	OR10A5_ENST00000379831.2_Missense_Mutation_p.R225G			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	221					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)		TTCCTATACTCGCATTGCTGC	0.488																																					Pancreas(44;21 1072 25662 28041 45559)												0													287	233	251					11																	6867574		2201	4296	6497	SO:0001583	missense	0			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.661C>G	11.37:g.6867574C>G	ENSP00000299454:p.Arg221Gly		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R225G	ENST00000299454.4	37	c.673	CCDS7773.1	11	.	.	.	.	.	.	.	.	.	.	.	10.71	1.427460	0.25726	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00123	8.7;8.7	3.59	-0.582	0.11709	GPCR, rhodopsin-like superfamily (1);	0.329401	0.26650	N	0.023209	T	0.00241	0.0007	L	0.55017	1.72	0.09310	N	1	P	0.38992	0.653	P	0.52481	0.7	T	0.34204	-0.9838	10	0.42905	T	0.14	.	8.414	0.32659	0.0:0.6463:0.0:0.3537	.	221	Q9H207	O10A5_HUMAN	G	221;225	ENSP00000299454:R221G;ENSP00000369159:R225G	ENSP00000299454:R221G	R	+	1	0	OR10A5	6824150	0.000000	0.05858	0.002000	0.10522	0.391000	0.30476	-0.136000	0.10405	-0.102000	0.12197	0.591000	0.81541	CGC	OR10A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000166363		0.488	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A5	HGNC	protein_coding	OTTHUMT00000385983.1	-	0	59	0	C	NM_178168		6867574	1	tier1	-	no_errors	ENST00000379831	ensembl	human	known	74_37	missense	18.18	27	6	SNP	0.001	G	G	6867574	C	G	6867574	3	3	159	1	0	0	0	0	1	0	0	0	10932	884	31	5	663	5	OR10A5	11	6867574	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	860325	6867574	128138942	127	40405											
OR10A2	341276	genome.wustl.edu	37	chr11	6891832	6891832	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacagcctgagaaataacGaggtgaagaatgccctcagc	14	7	10	10	1	2	3	1	2	1	2	2	5	2	3	2	1	5	0	2	1	5	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:6891832G>T	ENST00000307322.4	+	1	909	c.847G>T	c.(847-849)Gag>Tag	p.E283*		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, 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)	p.E283K(1)		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)		GAGAAATAACGAGGTGAAGAA	0.448																																																	1	Substitution - Missense(1)	endometrium(1)											110	106	107					11																	6891832		2201	4296	6497	SO:0001587	stop_gained	0			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.847G>T	11.37:g.6891832G>T	ENSP00000303862:p.Glu283*		B2RNL9|Q6IFG9	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E283*	ENST00000307322.4	37	c.847	CCDS31415.1	11	.	.	.	.	.	.	.	.	.	.	g	13.54	2.267184	0.40095	.	.	ENSG00000170790	ENST00000307322	.	.	.	4.18	4.18	0.49190	.	0.103576	0.42682	D	0.000664	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.341	0.43877	0.0:0.2003:0.7997:0.0	.	.	.	.	X	283	.	ENSP00000303862:E283X	E	+	1	0	OR10A2	6848408	1.000000	0.71417	0.991000	0.47740	0.158000	0.22134	5.426000	0.66476	2.356000	0.79943	0.650000	0.86243	GAG	OR10A2	-	prints_GPCR_Rhodpsn	ENSG00000170790		0.448	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A2	HGNC	protein_coding	OTTHUMT00000385984.1		0	50	0	G	NM_001004460		6891832	1			no_errors	ENST00000307322	ensembl	human	known	74_37	nonsense	8.70	21	2	SNP	0.999	T	T	6891832	G	T	6891832	4	4	159	1	0	0	0	0	0	1	0	0	10929	1059	37	2	849	2	OR10A2	11	6891832	Nonsense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	24258	6891832	128114684	128	40406											
CCDC34	91057	genome.wustl.edu	37	chr11	27362982	27362982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcttcagcattttttttcTttaaccattcttgatatttt	8	24	2	7	0	4	1	1	1	3	0	4	1	4	1	1	0	2	1	1	0	2	13			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:27362982T>C	ENST00000328697.6	-	4	1395	c.722A>G	c.(721-723)aAg>aGg	p.K241R	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	241										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						attttttttctttaaccattc	0.294																																																	0													72	68	69					11																	27362982		2142	4218	6360	SO:0001583	missense	0			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.722A>G	11.37:g.27362982T>C	ENSP00000330240:p.Lys241Arg		B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	NULL	p.K241R	ENST00000328697.6	37	c.722	CCDS31448.1	11	.	.	.	.	.	.	.	.	.	.	T	10.64	1.405824	0.25378	.	.	ENSG00000109881	ENST00000328697	T	0.20881	2.04	3.84	3.84	0.44239	.	0.247587	0.33834	N	0.004513	T	0.16896	0.0406	L	0.37850	1.14	0.80722	D	1	P	0.35328	0.495	B	0.38616	0.277	T	0.04796	-1.0926	10	0.23302	T	0.38	-7.9258	9.2989	0.37833	0.0:0.0:0.0:1.0	.	241	Q96HJ3	CCD34_HUMAN	R	241	ENSP00000330240:K241R	ENSP00000330240:K241R	K	-	2	0	CCDC34	27319558	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.337000	0.43947	1.975000	0.57531	0.482000	0.46254	AAG	CCDC34	-	NULL	ENSG00000109881		0.294	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC34	HGNC	protein_coding	OTTHUMT00000388396.2	-	0	37	0	T	NM_030771		27362982	-1	tier1	-	no_errors	ENST00000328697	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	C	C	27362982	T	C	27362982	3	2	159	1	0	0	0	0	1	0	0	0	2814	1609	56	4	411	4	CCDC34	11	27362982	Missense_Mutation	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	20471150	27362982	107643534	129	40407											
MYBPC3	4607	genome.wustl.edu	37	chr11	47368187	47368187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcactcacctcggggtcCggaaactgctgctccagggg	6	7	15	13	2	1	0	1	0	0	0	4	1	3	1	3	6	3	3	3	6	1	0	rs373204728		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:47368187C>T	ENST00000545968.1	-	11	971	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R306Q|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R306Q	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	306					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)		CCTCGGGGTCCGGAAACTGCT	0.627																																																	0								C	GLN/ARG	1,4035		0,1,2017	44	55	52		917	4	1	11		52	0,8322		0,0,4161	no	missense	MYBPC3	NM_000256.3	43	0,1,6178	TT,TC,CC		0.0,0.0248,0.0081	possibly-damaging	306/1275	47368187	1,12357	2018	4161	6179	SO:0001583	missense	0			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.917G>A	11.37:g.47368187C>T	ENSP00000442795:p.Arg306Gln		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R306Q	ENST00000545968.1	37	c.917	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	C	7.976	0.750181	0.15778	2.48E-4	0.0	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.57107	0.44;0.42;0.48	4.04	4.04	0.47022	.	.	.	.	.	T	0.30070	0.0753	N	0.08118	0	0.39628	D	0.970137	B	0.20261	0.043	B	0.09377	0.004	T	0.13442	-1.0509	9	0.12430	T	0.62	.	14.0498	0.64730	0.0:1.0:0.0:0.0	.	306	Q14896	MYPC3_HUMAN	Q	306	ENSP00000442795:R306Q;ENSP00000382193:R306Q;ENSP00000256993:R306Q	ENSP00000256993:R306Q	R	-	2	0	MYBPC3	47324763	0.999000	0.42202	0.980000	0.43619	0.014000	0.08584	3.788000	0.55446	2.229000	0.72834	0.561000	0.74099	CGG	MYBPC3	-	NULL	ENSG00000134571		0.627	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	-	0	58	0	C			47368187	-1	tier1	-	no_errors	ENST00000399249	ensembl	human	known	74_37	missense	10.91	49	6	SNP	0.999	T	T	47368187	C	T	47368187	3	4	159	1	0	0	0	0	1	0	0	0	10051	652	23	1	2999	1	MYBPC3	11	47368187	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	20005205	47368187	87638329	130	40408											
MTA2	9219	genome.wustl.edu	37	chr11	62363243	62363243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtggtgccccgagtggccCcctcaagctgagttggggtc	4	8	15	14	2	1	1	1	1	0	0	2	2	1	1	5	4	2	2	5	4	1	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:62363243C>T	ENST00000278823.2	-	13	1624	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	MTA2_ENST00000524902.1_Missense_Mutation_p.G239E|MTA2_ENST00000527204.1_Missense_Mutation_p.G239E	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	412					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						CCGAGTGGCCCCCTCAAGCTG	0.542																																																	0													80	83	82					11																	62363243		2202	4299	6501	SO:0001583	missense	0			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.1235G>A	11.37:g.62363243C>T	ENSP00000278823:p.Gly412Glu		Q68DB1|Q9UQB5	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.G412E	ENST00000278823.2	37	c.1235	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738619	0.49045	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.45668	1.5;0.89;0.89	4.9	4.9	0.64082	Zinc finger, GATA-type (1);	0.102199	0.64402	D	0.000003	T	0.49795	0.1578	N	0.26130	0.795	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.36335	-0.9752	10	0.25751	T	0.34	-21.6947	15.6137	0.76748	0.0:1.0:0.0:0.0	.	412	O94776	MTA2_HUMAN	E	412;239;239	ENSP00000278823:G412E;ENSP00000431346:G239E;ENSP00000431797:G239E	ENSP00000278823:G412E	G	-	2	0	MTA2	62119819	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.750000	0.68712	2.549000	0.85964	0.655000	0.94253	GGG	MTA2	-	smart_Znf_GATA	ENSG00000149480		0.542	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	HGNC	protein_coding	OTTHUMT00000395578.1	-	0	40	0	C	NM_004739		62363243	-1	tier1	-	no_errors	ENST00000278823	ensembl	human	known	74_37	missense	28.57	35	14	SNP	1.000	T	T	62363243	C	T	62363243	3	4	159	1	0	0	0	0	1	0	0	0	9947	623	22	3	795	3	MTA2	11	62363243	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	14995056	62363243	72643273	131	40409											
FAM168A	23201	genome.wustl.edu	37	chr11	73122547	73122547	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagcagtgttactctgggtCggtgggaccttgtatggtgt	5	13	17	6	1	1	0	0	0	1	0	2	2	1	2	1	5	2	3	1	5	2	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:73122547C>T	ENST00000064778.4	-	6	623	c.339G>A	c.(337-339)ccG>ccA	p.P113P	RP11-809N8.4_ENST00000542598.1_RNA|FAM168A_ENST00000450446.2_Intron|RP11-809N8.4_ENST00000536855.1_RNA|FAM168A_ENST00000356467.4_Silent_p.P104P			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	113										endometrium(3)|kidney(1)|lung(1)	5						TACTCTGGGTCGGTGGGACCT	0.532																																																	0													80	79	79					11																	73122547		1921	4109	6030	SO:0001819	synonymous_variant	0			BC014932	CCDS41689.1, CCDS66165.1, CCDS73346.1	11q13.4	2008-06-11	2008-06-11	2008-06-11		ENSG00000054965			28999	protein-coding gene	gene with protein product	"tongue cancer chemotherapy resistance-associated protein 1"		"KIAA0280"	KIAA0280			Standard	XM_005273852		Approved	TCRP1	uc001oty.1	Q92567		ENST00000064778.4:c.339G>A	11.37:g.73122547C>T			A2ICY2|A2ID81|Q86UG2	Silent	SNP	NULL	p.P113	ENST00000064778.4	37	c.339		11																																																																																			FAM168A	-	NULL	ENSG00000054965		0.532	FAM168A-003	KNOWN	basic	protein_coding	FAM168A	HGNC	protein_coding	OTTHUMT00000397424.1	-	0	37	0	C	NM_015159		73122547	-1	tier1	-	no_errors	ENST00000064778	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.784	T	T	73122547	C	T	73122547	2	4	159	1	0	0	0	0	0	0	0	1	5504	871	31	1		1	FAM168A	11	73122547	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	10759304	73122547	61883969	132	40410											
RNF169	254225	genome.wustl.edu	37	chr11	74547657	74547657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagaggaagaagaccGacagttggctctgcagttgc	12	7	13	9	1	2	3	1	0	1	3	2	5	2	4	1	2	3	5	1	2	3	2	rs192609539	byFrequency	TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:74547657G>T	ENST00000299563.4	+	6	2022	c.2009G>T	c.(2008-2010)cGa>cTa	p.R670L		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	670					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)	p.R670Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GAAGAAGACCGACAGTTGGCT	0.552																																																	1	Substitution - Missense(1)	urinary_tract(1)											78	81	80					11																	74547657		1962	4137	6099	SO:0001583	missense	0			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.2009G>T	11.37:g.74547657G>T	ENSP00000299563:p.Arg670Leu		Q6N015	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R670L	ENST00000299563.4	37	c.2009	CCDS41691.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.85|14.85	2.658746|2.658746	0.47467|0.47467	.|.	.|.	ENSG00000166439|ENSG00000166439	ENST00000527301|ENST00000299563	.|T	.|0.55760	.|0.5	5.53|5.53	3.64|3.64	0.41730|0.41730	.|.	.|0.211078	.|0.36338	.|N	.|0.002657	T|T	0.48677|0.48677	0.1513|0.1513	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|P	.|0.48407	.|0.91	.|B	.|0.40677	.|0.337	T|T	0.51896|0.51896	-0.8647|-0.8647	5|10	.|0.87932	.|D	.|0	-6.4608|-6.4608	7.2913|7.2913	0.26368|0.26368	0.2739:0.0:0.7261:0.0|0.2739:0.0:0.7261:0.0	.|.	.|670	.|Q8NCN4	.|RN169_HUMAN	Y|L	41|670	.|ENSP00000299563:R670L	.|ENSP00000299563:R670L	D|R	+|+	1|2	0|0	RNF169|RNF169	74225305|74225305	1.000000|1.000000	0.71417|0.71417	0.807000|0.807000	0.32361|0.32361	0.990000|0.990000	0.78478|0.78478	4.206000|4.206000	0.58473|0.58473	0.797000|0.797000	0.33971|0.33971	0.655000|0.655000	0.94253|0.94253	GAC|CGA	RNF169	-	NULL	ENSG00000166439		0.552	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF169	HGNC	protein_coding	OTTHUMT00000384741.1		0	17	0	G	XM_495886		74547657	1			no_errors	ENST00000299563	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.924	T	T	74547657	G	T	74547657	3	4	159	1	0	0	0	0	1	0	0	0	13505	1058	37	2	2031	2	RNF169	11	74547657	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	1425110	74547657	60458859	133	40411											
ARRB1	408	genome.wustl.edu	37	chr11	74985188	74985188	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggccccgcttctctcGgttattggctaggaaggggg	5	9	17	10	3	1	0	0	0	1	0	3	2	1	1	2	7	0	3	2	7	3	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:74985188G>A	ENST00000420843.2	-	11	941	c.844C>T	c.(844-846)Cga>Tga	p.R282*	ARRB1_ENST00000360025.3_Nonsense_Mutation_p.R282*|ARRB1_ENST00000393505.4_Nonsense_Mutation_p.R282*	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	282					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						CGCTTCTCTCGGTTATTGGCT	0.602																																																	0													242	212	222					11																	74985188		2200	4293	6493	SO:0001587	stop_gained	0			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.844C>T	11.37:g.74985188G>A	ENSP00000409581:p.Arg282*		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Nonsense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.R282*	ENST00000420843.2	37	c.844	CCDS44684.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.739213|5.739213	0.96873|0.96873	.|.	.|.	ENSG00000137486|ENSG00000137486	ENST00000532447|ENST00000420843;ENST00000393505;ENST00000360025	.|.	.|.	.|.	4.47|4.47	3.54|3.54	0.40534|0.40534	.|.	.|0.105269	.|0.40064	.|N	.|0.001195	T|.	0.27027|.	0.0662|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30679|.	-0.9970|.	3|.	.|0.02654	.|T	.|1	-0.4467|-0.4467	11.7452|11.7452	0.51815|0.51815	0.0:0.0:0.8231:0.1769|0.0:0.0:0.8231:0.1769	.|.	.|.	.|.	.|.	L|X	106|282	.|.	.|ENSP00000353124:R282X	P|R	-|-	2|1	0|2	ARRB1|ARRB1	74662836|74662836	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.873000|0.873000	0.50193|0.50193	4.736000|4.736000	0.62059|0.62059	0.856000|0.856000	0.35383|0.35383	0.456000|0.456000	0.33151|0.33151	CCG|CGA	ARRB1	-	pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	ENSG00000137486		0.602	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3		0	60	0	G	NM_004041		74985188	-1			no_errors	ENST00000393505	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	1.000	A	A	74985188	G	A	74985188	4	1	159	1	0	0	0	0	0	1	0	0	981	1124	39	1	436	1	ARRB1	11	74985188	Nonsense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	437531	74985188	60021328	134	40412											
TRIM49	57093	genome.wustl.edu	37	chr11	89531678	89531678	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaccccatgcaagaaaacTtctaggtgttgcagtgaaat	15	9	8	9	0	1	2	0	1	1	1	1	2	1	2	2	1	4	3	2	1	6	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:89531678T>C	ENST00000329758.1	-	8	1307	c.979A>G	c.(979-981)Agt>Ggt	p.S327G	TRIM49_ENST00000532501.2_Missense_Mutation_p.S250G	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	327	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)				GCAAGAAAACTTCTAGGTGTT	0.418																																																	0													13	16	15					11																	89531678		2019	4186	6205	SO:0001583	missense	0			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.979A>G	11.37:g.89531678T>C	ENSP00000327604:p.Ser327Gly		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.S327G	ENST00000329758.1	37	c.979	CCDS8287.1	11	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.527908	0.00959	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.08458	3.09	0.539	-1.08	0.09936	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.06462	0.0166	L	0.41573	1.285	0.09310	N	1	B	0.29378	0.243	B	0.30716	0.119	T	0.41106	-0.9527	7	.	.	.	.	.	.	.	.	327	P0CI25	TRI49_HUMAN	G	327;250	ENSP00000327604:S327G	.	S	-	1	0	TRIM49	89171326	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.057000	0.11768	-0.399000	0.07668	-1.394000	0.01149	AGT	TRIM49	-	superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY	ENSG00000168930		0.418	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1		0	69	0	T	NM_020358		89531678	-1			no_errors	ENST00000329758	ensembl	human	known	74_37	missense	12.68	62	9	SNP	0.000	C	C	89531678	T	C	89531678	3	2	159	1	0	0	0	0	1	0	0	0	16572	1609	56	4	383	4	TRIM49	11	89531678	Missense_Mutation	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	14546490	89531678	45474838	135	40413											
MAML2	84441	genome.wustl.edu	37	chr11	96074681	96074681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgatggtgatagtctggtgGgggcggtggggctgctgttg	3	12	22	4	1	1	2	0	2	1	0	1	2	1	2	0	7	1	3	0	7	1	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:96074681G>A	ENST00000524717.1	-	1	1663	c.379C>T	c.(379-381)Cca>Tca	p.P127S	MIR1260B_ENST00000582890.1_RNA	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	127					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)				tagtctggtgggggcggtggg	0.647			T	"MECT1, CRTC3"	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													25	24	24					11																	96074681		1551	3251	4802	SO:0001583	missense	0			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.379C>T	11.37:g.96074681G>A	ENSP00000434552:p.Pro127Ser	1317	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.P127S	ENST00000524717.1	37	c.379	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359183	0.41801	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.52526	0.66;0.66	4.9	4.9	0.64082	.	.	.	.	.	T	0.35508	0.0934	L	0.29908	0.895	0.28612	N	0.908633	P	0.47762	0.9	B	0.39419	0.299	T	0.23726	-1.0180	9	0.45353	T	0.12	.	11.528	0.50591	0.0:0.1809:0.8191:0.0	.	127	Q8IZL2	MAML2_HUMAN	S	127	ENSP00000434552:P127S;ENSP00000412394:P127S	ENSP00000412394:P127S	P	-	1	0	MAML2	95714329	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.612000	0.36889	2.268000	0.75426	0.561000	0.74099	CCA	MAML2	-	NULL	ENSG00000184384		0.647	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	-	0	21	0	G			96074681	-1	tier1	-	no_errors	ENST00000524717	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	A	A	96074681	G	A	96074681	3	1	159	1	0	0	0	0	1	0	0	0	9244	1232	43	3	3111	3	MAML2	11	96074681	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	6543003	96074681	38931835	136	40414											
GRIA4	2893	genome.wustl.edu	37	chr11	105797547	105797547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	atcttatactgctaacctcgCtgctttcctgacggttgagc	7	14	8	12	2	1	2	0	2	1	0	3	2	2	2	2	1	5	4	2	1	3	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:105797547C>T	ENST00000530497.1	+	12	1928	c.1928C>T	c.(1927-1929)gCt>gTt	p.A643V	GRIA4_ENST00000525187.1_Missense_Mutation_p.A643V|GRIA4_ENST00000282499.5_Missense_Mutation_p.A643V|GRIA4_ENST00000393127.2_Missense_Mutation_p.A643V			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	643					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)		GCTAACCTCGCTGCTTTCCTG	0.423																																																	0													130	127	128					11																	105797547		2202	4298	6500	SO:0001583	missense	0			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.1928C>T	11.37:g.105797547C>T	ENSP00000435775:p.Ala643Val		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A643V	ENST00000530497.1	37	c.1928	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.654494	0.96724	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.76	5.76	0.90799	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	D	0.87269	0.6135	H	0.96943	3.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.90539	0.4501	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	643;643	P48058;G3V164	GRIA4_HUMAN;.	V	643	ENSP00000282499:A643V;ENSP00000376835:A643V;ENSP00000435775:A643V;ENSP00000432180:A643V	ENSP00000282499:A643V	A	+	2	0	GRIA4	105302757	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.776000	0.85560	2.882000	0.98803	0.655000	0.94253	GCT	GRIA4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000152578		0.423	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	-	0	79	0	C			105797547	1	tier1	-	no_errors	ENST00000282499	ensembl	human	known	74_37	missense	25.74	75	26	SNP	1.000	T	T	105797547	C	T	105797547	3	4	159	1	0	0	0	0	1	0	0	0	6797	797	28	3	2011	3	GRIA4	11	105797547	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	9722866	105797547	29208969	137	40415											
ZC3H12C	85463	genome.wustl.edu	37	chr11	110035943	110035943	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctggctctgcacctgccGcactccgctgtgggcgcccg	3	7	12	19	4	1	0	0	0	1	0	2	0	2	0	5	2	2	4	5	2	0	0	rs368064377		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:110035943G>T	ENST00000278590.3	+	6	2184	c.2133G>T	c.(2131-2133)ccG>ccT	p.P711P	ZC3H12C_ENST00000453089.2_Silent_p.P680P|ZC3H12C_ENST00000528673.1_Silent_p.P712P	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	711							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGCACCTGCCGCACTCCGCTG	0.587																																																	0													135	157	150					11																	110035943		2121	4231	6352	SO:0001819	synonymous_variant	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2133G>T	11.37:g.110035943G>T			B4DI65|B4DR47	Silent	SNP	pfam_RNase_Zc3h12	p.P711	ENST00000278590.3	37	c.2133	CCDS44727.1	11																																																																																			ZC3H12C	-	NULL	ENSG00000149289		0.587	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	-	0	25	0	G	NM_033390		110035943	1	tier1	-	no_errors	ENST00000278590	ensembl	human	known	74_37	silent	52.17	11	12	SNP	1.000	T	T	110035943	G	T	110035943	2	4	159	1	0	0	0	0	0	0	0	1	17611	1074	38	2		2	ZC3H12C	11	110035943	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	4238396	110035943	24970573	138	40416											
SIAE	54414	genome.wustl.edu	37	chr11	124508462	124508462	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatatcttgttgtcctttttCtgcacctggatttgctggta	6	19	8	8	0	2	0	0	0	2	0	3	1	3	1	2	2	2	4	2	2	3	7			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:124508462C>G	ENST00000263593.3	-	9	1468	c.1296G>C	c.(1294-1296)caG>caC	p.Q432H	SIAE_ENST00000545756.1_Missense_Mutation_p.Q397H|RNA5SP352_ENST00000363408.1_RNA			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	432					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	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;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGTCCTTTTTCTGCACCTGGA	0.448																																																	0													170	135	147					11																	124508462		2201	4299	6500	SO:0001583	missense	0			AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.1296G>C	11.37:g.124508462C>G	ENSP00000263593:p.Gln432His		B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	pfam_DUF303_acetylest	p.Q432H	ENST00000263593.3	37	c.1296	CCDS8449.1	11	.	.	.	.	.	.	.	.	.	.	C	9.341	1.063003	0.19987	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.83914	-1.78;-1.77	5.44	3.49	0.39957	.	1.045090	0.07483	N	0.904162	T	0.80742	0.4681	M	0.72479	2.2	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.64947	-0.6287	10	0.39692	T	0.17	-14.383	5.4859	0.16749	0.1449:0.6373:0.1403:0.0775	.	432	Q9HAT2	SIAE_HUMAN	H	432;397	ENSP00000263593:Q432H;ENSP00000437877:Q397H	ENSP00000263593:Q432H	Q	-	3	2	SIAE	124013672	0.000000	0.05858	0.329000	0.25429	0.680000	0.39746	-0.039000	0.12124	0.611000	0.30052	0.655000	0.94253	CAG	SIAE	-	NULL	ENSG00000110013		0.448	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAE	HGNC	protein_coding	OTTHUMT00000387070.1	-	0	103	0	C	NM_170601		124508462	-1	tier1	-	no_errors	ENST00000263593	ensembl	human	known	74_37	missense	7.43	137	11	SNP	0.009	G	G	124508462	C	G	124508462	3	3	159	1	0	0	0	0	1	0	0	0	14343	912	32	5	283	5	SIAE	11	124508462	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	14472519	124508462	10498054	139	40417											
ST14	6768	genome.wustl.edu	37	chr11	130079337	130079337	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtcctgccctctccccagGcactggcgcgctgatcctgc	3	8	10	20	3	1	1	0	1	1	0	4	1	3	1	6	2	2	2	6	2	0	0			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:130079337G>T	ENST00000278742.5	+	18	2688	c.2270G>T	c.(2269-2271)gGc>gTc	p.G757V		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	757	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)	CTCTCCCCAGGCACTGGCGCG	0.627																																																	0													19	16	17					11																	130079337		2194	4286	6480	SO:0001630	splice_region_variant	0			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.2270-1G>T	11.37:g.130079337G>T			Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.G757V	ENST00000278742.5	37	c.2270	CCDS8487.1	11	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799494	0.90538	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.90732	-2.72	4.93	4.93	0.64822	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37136	N	0.002224	D	0.91771	0.7397	N	0.26130	0.795	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91051	0.4878	9	.	.	.	.	17.7275	0.88369	0.0:0.0:1.0:0.0	.	757	Q9Y5Y6	ST14_HUMAN	V	757;659	ENSP00000278742:G757V	.	G	+	2	0	ST14	129584547	1.000000	0.71417	0.872000	0.34217	0.487000	0.33371	5.995000	0.70631	2.292000	0.77174	0.313000	0.20887	GGC	ST14	-	pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000149418		0.627	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	HGNC	protein_coding	OTTHUMT00000386119.1	-	0	52	0	G		Missense_Mutation	130079337	1	tier1	-	no_errors	ENST00000278742	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.996	T	T	130079337	G	T	130079337	5	4	159	1	0	0	0	0	0	0	1	0	15258	1217	42	3	2340	3	ST14	11	130079337	Splice_Site	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	5570875	130079337	4927179	140	40418											
GLB1L3	112937	genome.wustl.edu	37	chr11	134147678	134147678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcacaggtcggggtaagccCcacttcacactggagggcca	10	5	13	13	1	1	0	1	0	0	0	2	1	1	1	3	5	2	2	3	5	1	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr11:134147678C>T	ENST00000431683.2	+	3	234	c.234C>T	c.(232-234)ccC>ccT	p.P78P	GLB1L3_ENST00000389887.5_Silent_p.P78P	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	78					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GGGGTAAGCCCCACTTCACAC	0.587																																																	0													43	48	46					11																	134147678		2201	4296	6497	SO:0001819	synonymous_variant	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.234C>T	11.37:g.134147678C>T			A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.P78	ENST00000431683.2	37	c.234	CCDS44780.1	11																																																																																			GLB1L3	-	superfamily_Glycoside_hydrolase_SF	ENSG00000166105		0.587	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	-	0	42	0	C	NM_138416		134147678	1	tier1	-	no_errors	ENST00000431683	ensembl	human	known	74_37	silent	12.00	44	6	SNP	0.001	T	T	134147678	C	T	134147678	2	4	159	1	0	0	0	0	0	0	0	1	6456	610	22	3		3	GLB1L3	11	134147678	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	4068341	134147678	858838	141	40419											
CD163	9332	genome.wustl.edu	37	chr12	7640028	7640028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttacaggacaatctccCatgtgctgctcagtcccagt	9	10	9	13	0	2	0	1	0	1	0	4	1	3	1	2	1	3	4	2	1	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr12:7640028C>T	ENST00000359156.4	-	8	2179	c.1977G>A	c.(1975-1977)atG>atA	p.M659I	CD163_ENST00000396620.3_Missense_Mutation_p.M692I|CD163_ENST00000541972.1_Missense_Mutation_p.M647I|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.M659I	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	659	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GACAATCTCCCATGTGCTGCT	0.507																																																	0													123	108	113					12																	7640028		2203	4300	6503	SO:0001583	missense	0			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.1977G>A	12.37:g.7640028C>T	ENSP00000352071:p.Met659Ile		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.M659I	ENST00000359156.4	37	c.1977	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	9.170	1.020903	0.19433	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.36	-3.52	0.04682	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.679503	0.14941	N	0.289510	T	0.05640	0.0148	N	0.00155	-1.965	0.20196	N	0.999928	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.40646	-0.9552	10	0.38643	T	0.18	.	7.3759	0.26829	0.1245:0.2826:0.0:0.593	.	692;659;659	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	I	659;647;692;659	ENSP00000352071:M659I;ENSP00000444071:M647I;ENSP00000379863:M692I;ENSP00000403885:M659I	ENSP00000352071:M659I	M	-	3	0	CD163	7531295	0.000000	0.05858	0.063000	0.19743	0.798000	0.45092	-1.761000	0.01805	-0.714000	0.04975	-0.899000	0.02877	ATG	CD163	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000177575		0.507	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2		0	18	0	C	NM_004244, NM_203416		7640028	-1			no_errors	ENST00000359156	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.165	T	T	7640028	C	T	7640028	3	4	159	1	0	0	0	0	1	0	0	0	2974	594	21	3	1529	3	CD163	12	7640028	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		7640028	126211867	142	40420											
RIMKLB	57494	genome.wustl.edu	37	chr12	8926142	8926142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatgccgcctcccttctacCctctggccggctcacccggc	3	9	8	21	3	3	0	1	0	2	0	4	0	4	0	6	3	2	1	6	3	2	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr12:8926142C>T	ENST00000538135.1	+	6	1748	c.923C>T	c.(922-924)cCc>cTc	p.P308L	RIMKLB_ENST00000535829.1_Missense_Mutation_p.P308L|RIMKLB_ENST00000357529.3_Missense_Mutation_p.P308L|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000299673.5_Intron			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	308					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						TCCCTTCTACCCTCTGGCCGG	0.562																																																	0													75	77	77					12																	8926142		1949	4146	6095	SO:0001583	missense	0			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.923C>T	12.37:g.8926142C>T	ENSP00000440943:p.Pro308Leu		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.P308L	ENST00000538135.1	37	c.923	CCDS41748.1	12	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630392	0.67015	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	5.72	0.89469	.	0.064424	0.64402	U	0.000006	T	0.62024	0.2394	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.63793	0.918	T	0.58912	-0.7552	8	.	.	.	.	11.8477	0.52393	0.0:0.9199:0.0:0.0801	.	308	Q9ULI2	RIMKB_HUMAN	L	308	.	.	P	+	2	0	RIMKLB	8817409	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.764000	0.55264	2.689000	0.91719	0.591000	0.81541	CCC	RIMKLB	-	NULL	ENSG00000166532		0.562	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLB	HGNC	protein_coding	OTTHUMT00000398874.1	-	0	20	0	C	NM_020734		8926142	1	tier1	-	no_errors	ENST00000357529	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	T	T	8926142	C	T	8926142	3	4	159	1	0	0	0	0	1	0	0	0	13411	623	22	3	941	3	RIMKLB	12	8926142	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	1286114	8926142	124925753	143	40421											
GABARAPL1	23710	genome.wustl.edu	37	chr12	10370694	10370694	+	Silent	SNP	G	G	T	0	0	1	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	aaggctccaaaagccagggtGcctgatctggacaagaggaa	14	5	13	9	0	1	2	0	1	1	1	2	4	2	4	3	4	2	1	3	4	5	0			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr12:10370694G>T	ENST00000266458.5	+	2	448	c.123G>T	c.(121-123)gtG>gtT	p.V41V	GABARAPL1_ENST00000539289.1_3'UTR|GABARAPL1_ENST00000545047.1_Intron|GABARAPL1_ENST00000539170.1_5'UTR|GABARAPL1_ENST00000421801.2_Silent_p.V41V|GABARAPL1_ENST00000545887.1_Silent_p.V41V|GABARAPL1_ENST00000535576.1_5'UTR|GABARAPL1_ENST00000543602.1_Silent_p.V41V|GABARAPL1_ENST00000546017.1_5'UTR|GABARAPL1_ENST00000544284.1_5'UTR	NM_031412.2	NP_113600.1	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	41	Interaction with GABRG2. {ECO:0000250}.				autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|dendrite cytoplasm (GO:0032839)|dendrite membrane (GO:0032590)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|microtubule (GO:0005874)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)			NS(1)|lung(1)	2						AAGCCAGGGTGCCTGATCTGG	0.473																																					Melanoma(3;46 76 4652 22680 42285)												0													183	155	165					12																	10370694		2203	4300	6503	SO:0001819	synonymous_variant	0			AF087847	CCDS8620.1	12p13.31	2014-02-12			ENSG00000139112	ENSG00000139112			4068	protein-coding gene	gene with protein product		607420				11414770, 11374880	Standard	NM_031412		Approved	gec1, APG8L, ATG8L, ATG8B	uc001qxs.3	Q9H0R8	OTTHUMG00000168411	ENST00000266458.5:c.123G>T	12.37:g.10370694G>T			B4E0Y7|Q6FIE6	Silent	SNP	pfam_Atg8_fam,pfam_Atg12	p.V41	ENST00000266458.5	37	c.123	CCDS8620.1	12																																																																																			GABARAPL1	-	pfam_Atg8_fam,pfam_Atg12	ENSG00000139112		0.473	GABARAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABARAPL1	HGNC	protein_coding	OTTHUMT00000399651.1	-	0	67	0	G			10370694	1	tier1	-	no_errors	ENST00000266458	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.997	T	T	10370694	G	T	10370694	2	4	159	1	0	0	0	0	0	0	0	1	6177	1306	46	3		3	GABARAPL1	12	10370694	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	1444552	10370694	123481201	144	40422											
PRB3	5544	genome.wustl.edu	37	chr12	11420501	11420501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgcctccttgtgggggtgGtccttctggctttcccggac	1	14	14	12	1	1	0	0	0	1	0	4	1	4	1	4	5	1	2	4	5	0	4	rs12811811		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr12:11420501G>A	ENST00000279573.7	-	3	817	c.682C>T	c.(682-684)Cca>Tca	p.P228S	PRB3_ENST00000538488.1_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	228	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTGGGGGTGGTCCTTCTGGC	0.632																																																	0													77	14	37					12																	11420501		1586	2681	4267	SO:0001583	missense	0					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.682C>T	12.37:g.11420501G>A	ENSP00000279573:p.Pro228Ser		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.P228S	ENST00000279573.7	37	c.682		12																																																																																			PRB3	-	NULL	ENSG00000197870		0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5		0	16	0	G	NM_006249		11420501	-1			no_errors	ENST00000279573	ensembl	human	known	74_37	missense	17.24	23	5	SNP	0.065	A	A	11420501	G	A	11420501	3	1	159	1	0	0	0	0	1	0	0	0	12486	1261	44	3	255	3	PRB3	12	11420501	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	1049807	11420501	122431394	145	40423											
ABCC9	10060	genome.wustl.edu	37	chr12	22069892	22069892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgactcgaatgacattgatCtccacagccatcaagagccc	12	8	7	14	1	2	4	1	3	1	1	4	5	2	4	3	0	2	0	3	0	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr12:22069892C>T	ENST00000261201.4	-	4	551	c.552G>A	c.(550-552)gaG>gaA	p.E184E	ABCC9_ENST00000261200.4_Silent_p.E184E|ABCC9_ENST00000345162.2_Silent_p.E184E	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	184					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TGACATTGATCTCCACAGCCA	0.413																																																	0													231	216	221					12																	22069892		2203	4300	6503	SO:0001819	synonymous_variant	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.552G>A	12.37:g.22069892C>T			O60707	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.E184	ENST00000261201.4	37	c.552	CCDS8694.1	12																																																																																			ABCC9	-	NULL	ENSG00000069431		0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	58	0	C	NM_005691		22069892	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T	T	22069892	C	T	22069892	2	4	159	1	0	0	0	0	0	0	0	1	59	912	32	3		3	ABCC9	12	22069892	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	10649391	22069892	111782003	146	40424											
MLL2	8085	genome.wustl.edu	37	chr12	49446706	49446706	+	Silent	SNP	C	C	T	0	0	0	1	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	cccaccacttacctgctacaCaccggggtatgctgctcagc	8	8	8	17	1	1	0	1	0	0	0	1	0	1	0	4	2	6	4	4	2	3	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr12:49446706C>T	ENST00000301067.7	-	8	1103	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	368					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)										ACCTGCTACACACCGGGGTAT	0.542																																																	0													105	103	103					12																	49446706		2098	4222	6320	SO:0001819	synonymous_variant	0			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.1104G>A	12.37:g.49446706C>T			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.V368	ENST00000301067.7	37	c.1104	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	43	0	C			49446706	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	silent	17.50	33	7	SNP	0.875	T	T	49446706	C	T	49446706	2	4	159	1	0	0	0	0	0	0	0	1	9659	465	17	3		3	MLL2	12	49446706	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	27376814	49446706	84405189	147	40425											
OR6C76	390326	genome.wustl.edu	37	chr12	55820661	55820661	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttactcttatatccactttGatattagtaattctctccta	10	20	2	9	0	2	1	0	1	2	0	5	1	4	1	2	0	1	1	2	0	7	10			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr12:55820661G>C	ENST00000328314.3	+	1	624	c.624G>C	c.(622-624)ttG>ttC	p.L208F		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	208						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)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATCCACTTTGATATTAGTAA	0.398																																																	0													94	86	89					12																	55820661		2203	4299	6502	SO:0001583	missense	0				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.624G>C	12.37:g.55820661G>C	ENSP00000328402:p.Leu208Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L208F	ENST00000328314.3	37	c.624	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	g	6.326	0.428272	0.11987	.	.	ENSG00000185821	ENST00000328314	T	0.40476	1.03	4.02	-1.78	0.07957	GPCR, rhodopsin-like superfamily (1);	0.306260	0.17406	U	0.175375	T	0.30230	0.0758	L	0.27053	0.805	0.09310	N	1	P	0.43909	0.821	P	0.49252	0.604	T	0.17319	-1.0373	10	0.72032	D	0.01	.	2.2476	0.04035	0.1564:0.1118:0.3656:0.3662	.	208	A6NM76	O6C76_HUMAN	F	208	ENSP00000328402:L208F	ENSP00000328402:L208F	L	+	3	2	OR6C76	54106928	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-2.286000	0.01152	-0.194000	0.10399	-0.319000	0.08680	TTG	OR6C76	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000185821		0.398	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	-	0	39	0	G	NM_001005183		55820661	1	tier1	-	no_errors	ENST00000328314	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.000	C	C	55820661	G	C	55820661	3	2	159	1	0	0	0	0	1	0	0	0	11239	1281	45	5	626	5	OR6C76	12	55820661	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	6373955	55820661	78031234	148	40426											
OS9	10956	genome.wustl.edu	37	chr12	58114597	58114597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagaggcccagaaggaaCgccagcggcagaaagagctg	14	2	15	10	2	0	5	0	1	0	4	0	6	0	6	2	3	3	2	2	3	4	0	rs369079310		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr12:58114597C>T	ENST00000315970.7	+	15	1950	c.1909C>T	c.(1909-1911)Cgc>Tgc	p.R637C	OS9_ENST00000439210.2_Missense_Mutation_p.R508C|OS9_ENST00000257966.8_Missense_Mutation_p.R583C|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Missense_Mutation_p.R582C|OS9_ENST00000551035.1_Missense_Mutation_p.R550C|OS9_ENST00000413095.2_Missense_Mutation_p.R376C|RP11-571M6.8_ENST00000548410.2_RNA|OS9_ENST00000389142.5_Missense_Mutation_p.R567C|OS9_ENST00000389146.6_Missense_Mutation_p.R622C|OS9_ENST00000435406.2_Missense_Mutation_p.R530C	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	637					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCAGAAGGAACGCCAGCGGCA	0.642																																																	0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	58	58	58		1744,1699,1864,1909	5.3	1	12		58	0,8600		0,0,4300	no	missense,missense,missense,missense	OS9	NM_001017956.2,NM_001017957.2,NM_001017958.2,NM_006812.3	180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	582/613,567/598,622/653,637/668	58114597	1,13005	2203	4300	6503	SO:0001583	missense	0			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1909C>T	12.37:g.58114597C>T	ENSP00000318165:p.Arg637Cys		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.R637C	ENST00000315970.7	37	c.1909	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438585	0.83885	2.27E-4	0.0	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.35789	1.77;1.78;1.78;1.77;1.29;1.77;1.77;1.77;1.7	5.29	5.29	0.74685	.	0.118611	0.56097	D	0.000023	T	0.47911	0.1471	L	0.27053	0.805	0.58432	D	0.999997	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;1.0;1.0	P;P;P;D;P;D;D;D	0.77557	0.818;0.83;0.897;0.99;0.68;0.968;0.987;0.976	T	0.48937	-0.8990	10	0.87932	D	0	.	15.9613	0.79933	0.0:1.0:0.0:0.0	.	508;550;376;583;567;582;622;637	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	C	582;637;508;622;376;550;583;530;567	ENSP00000450010:R582C;ENSP00000318165:R637C;ENSP00000407360:R508C;ENSP00000373798:R622C;ENSP00000413112:R376C;ENSP00000447866:R550C;ENSP00000257966:R583C;ENSP00000389632:R530C;ENSP00000373794:R567C	ENSP00000257966:R583C	R	+	1	0	OS9	56400864	0.999000	0.42202	0.997000	0.53966	0.711000	0.40976	4.676000	0.61627	2.744000	0.94065	0.655000	0.94253	CGC	OS9	-	NULL	ENSG00000135506		0.642	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1	-	0	30	0	C	NM_006812		58114597	1	tier1	-	no_errors	ENST00000315970	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.999	T	T	58114597	C	T	58114597	3	4	159	1	0	0	0	0	1	0	0	0	11311	536	19	1	1967	1	OS9	12	58114597	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	2293936	58114597	75737298	149	40427											
CAPS2	84698	genome.wustl.edu	37	chr12	75710108	75710108	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttactgcatccaattttcttGccctctgttgtttatcgcaa	7	18	5	11	1	2	0	0	0	2	0	4	0	3	0	2	0	3	4	2	0	4	7			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr12:75710108G>T	ENST00000409445.3	-	7	828	c.632C>A	c.(631-633)gCa>gAa	p.A211E	CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.A161E	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	211							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CAATTTTCTTGCCCTCTGTTG	0.368																																																	0													263	210	226					12																	75710108		692	1591	2283	SO:0001583	missense	0			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.632C>A	12.37:g.75710108G>T	ENSP00000386959:p.Ala211Glu		Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.A211E	ENST00000409445.3	37	c.632	CCDS9008.2	12	.	.	.	.	.	.	.	.	.	.	G	8.610	0.889005	0.17540	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000552497;ENST00000436898	T;T;T;T	0.44482	1.93;1.91;0.92;0.93	5.75	1.54	0.23209	.	1.572370	0.03196	N	0.174034	T	0.23451	0.0567	N	0.08118	0	0.21220	N	0.99975	B;B	0.23806	0.091;0.091	B;B	0.19148	0.024;0.024	T	0.21655	-1.0239	10	0.49607	T	0.09	0.7733	3.4123	0.07363	0.402:0.0:0.4137:0.1843	.	211;161	Q9BXY5;B9A061	CAYP2_HUMAN;.	E	161;211;106;105	ENSP00000386977:A161E;ENSP00000386959:A211E;ENSP00000449797:A106E;ENSP00000411797:A105E	ENSP00000338474:A106E	A	-	2	0	CAPS2	73996375	0.008000	0.16893	0.233000	0.24025	0.480000	0.33159	0.439000	0.21575	0.790000	0.33803	0.655000	0.94253	GCA	CAPS2	-	NULL	ENSG00000180881		0.368	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	HGNC	protein_coding	OTTHUMT00000327880.2		0	55	0	G			75710108	-1			no_errors	ENST00000409445	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.138	T	T	75710108	G	T	75710108	3	4	159	1	0	0	0	0	1	0	0	0	2645	1319	46	3	1089	3	CAPS2	12	75710108	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	17595511	75710108	58141787	150	40428											
STAB2	55576	genome.wustl.edu	37	chr12	104131412	104131412	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttttttttttctttcttagGgtgacctctttctgaatggc	4	23	7	7	0	4	2	0	2	4	0	4	2	4	2	1	2	0	0	1	2	2	8			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr12:104131412G>A	ENST00000388887.2	+	53	5755	c.5551G>A	c.(5551-5553)Ggt>Agt	p.G1851S		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						TCTTTCTTAGGGTGACCTCTT	0.443																																																	0													47	49	48					12																	104131412		2203	4300	6503	SO:0001630	splice_region_variant	0			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.5551-1G>A	12.37:g.104131412G>A				Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G1851S	ENST00000388887.2	37	c.5551	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717207	0.48622	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.92805	-3.11	5.44	4.55	0.56014	FAS1 domain (5);	0.058841	0.64402	N	0.000002	D	0.92851	0.7726	M	0.84433	2.695	0.50813	D	0.999896	P	0.47034	0.889	B	0.43889	0.435	D	0.92473	0.5987	9	.	.	.	.	13.7046	0.62631	0.0752:0.0:0.9248:0.0	.	1851	Q8WWQ8	STAB2_HUMAN	S	1851;538	ENSP00000373539:G1851S	.	G	+	1	0	STAB2	102655542	1.000000	0.71417	0.728000	0.30774	0.018000	0.09664	6.150000	0.71801	1.283000	0.44513	0.462000	0.41574	GGT	STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000136011		0.443	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0	48	0	G		Missense_Mutation	104131412	1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	A	A	104131412	G	A	104131412	5	1	159	1	0	0	0	0	0	0	1	0	15285	1246	43	3	5761	3	STAB2	12	104131412	Splice_Site	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	28421304	104131412	29720483	151	40429											
FZD10	11211	genome.wustl.edu	37	chr12	130648663	130648663	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcagcatggacgtcaaCgcgctcaccggcttcgtgct	6	8	14	13	5	2	0	2	0	0	0	3	1	2	1	1	3	3	5	1	3	1	1	rs145130520		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr12:130648663C>T	ENST00000229030.4	+	1	1660	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	FZD10_ENST00000539839.1_Missense_Mutation_p.R360C|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	392					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.N392K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGGACGTCAACGCGCTCACCG	0.662																																																	1	Substitution - Missense(1)	kidney(1)						C		0,4406		0,0,2203	119	107	111		1176	-0.9	0	12	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FZD10	NM_007197.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		392/582	130648663	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1176C>T	12.37:g.130648663C>T				Missense_Mutation	SNP	NULL	p.R360C	ENST00000229030.4	37	c.1078	CCDS9267.1	12	.	.	.	.	.	.	.	.	.	.	C	7.619	0.676324	0.14841	0.0	1.16E-4	ENSG00000111432	ENST00000539839	.	.	.	5.21	-0.892	0.10570	.	.	.	.	.	T	0.59824	0.2222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60188	-0.7312	5	0.87932	D	0	.	6.7516	0.23489	0.0:0.4426:0.2172:0.3402	.	.	.	.	C	360	.	ENSP00000438460:R360C	R	+	1	0	FZD10	129214616	0.045000	0.20229	0.024000	0.17045	0.982000	0.71751	-0.641000	0.05434	-0.065000	0.13021	0.561000	0.74099	CGC	FZD10	-	NULL	ENSG00000111432		0.662	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	HGNC	protein_coding			0	10	0	C			130648663	1			no_errors	ENST00000539839	ensembl	human	known	74_37	missense	42.86	4	3	SNP	0.072	T	T	130648663	C	T	130648663	2	4	159	1	0	0	0	0	0	0	0	1	6153	535	19	1		1	FZD10	12	130648663	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	26517251	130648663	3203232	152	40430											
EP400	57634	genome.wustl.edu	37	chr12	132561952	132561952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctctcggctcaggcttctCcacagactgtggcgctcacg	5	10	10	16	3	4	1	2	0	2	1	7	1	4	1	1	3	0	3	1	3	0	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr12:132561952C>T	ENST00000333577.4	+	54	9323	c.9214C>T	c.(9214-9216)Cca>Tca	p.P3072S	EP400_ENST00000330386.6_Missense_Mutation_p.P2955S|EP400_ENST00000332482.4_Missense_Mutation_p.P2999S|EP400_ENST00000389561.2_Missense_Mutation_p.P3036S|EP400_ENST00000389562.2_Missense_Mutation_p.P3035S|RP13-820C6.2_ENST00000542422.1_RNA			Q96L91	EP400_HUMAN	E1A binding protein p400	3072					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)		TCAGGCTTCTCCACAGACTGT	0.587																																																	0													39	44	42					12																	132561952		2183	4273	6456	SO:0001583	missense	0			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.9214C>T	12.37:g.132561952C>T	ENSP00000333602:p.Pro3072Ser		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P3072S	ENST00000333577.4	37	c.9214		12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977273	0.74360	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.92299	-2.97;-2.98;-2.93;-2.99;-3.01	5.62	5.62	0.85841	.	0.125530	0.53938	D	0.000048	D	0.93844	0.8031	L	0.29908	0.895	0.48395	D	0.999643	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.87578	0.986;0.998;0.998;0.998	D	0.94184	0.7434	10	0.56958	D	0.05	.	19.6689	0.95903	0.0:1.0:0.0:0.0	.	3072;3036;2955;3035	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	S	3072;3036;3035;2999;2955;3036	ENSP00000333602:P3072S;ENSP00000374212:P3036S;ENSP00000374213:P3035S;ENSP00000331737:P2999S;ENSP00000330620:P2955S	ENSP00000330620:P2955S	P	+	1	0	EP400	131127905	0.998000	0.40836	0.955000	0.39395	0.980000	0.70556	5.667000	0.68067	2.642000	0.89623	0.655000	0.94253	CCA	EP400	-	NULL	ENSG00000183495		0.587	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		-	0	37	0	C	NM_015409		132561952	1	tier1	-	no_errors	ENST00000333577	ensembl	human	known	74_37	missense	25.93	40	14	SNP	1.000	T	T	132561952	C	T	132561952	3	4	159	1	0	0	0	0	1	0	0	0	5165	855	30	3	9309	3	EP400	12	132561952	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	1913289	132561952	1289943	153	40431											
KIAA0564	23078	genome.wustl.edu	37	chr13	42149965	42149965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatctccagagtgtccaaCgatgtcatactacatgcaag	12	9	8	12	1	2	1	1	0	1	1	4	2	3	1	3	0	4	1	3	0	4	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr13:42149965C>T	ENST00000379310.3	-	43	5349	c.5281G>A	c.(5281-5283)Gtt>Att	p.V1761I		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1761	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GAGTGTCCAACGATGTCATAC	0.358																																																	0													120	111	114					13																	42149965		1843	4101	5944	SO:0001583	missense	0			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.5281G>A	13.37:g.42149965C>T	ENSP00000368612:p.Val1761Ile		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.V1761I	ENST00000379310.3	37	c.5281	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	9.974	1.226341	0.22542	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.13657	2.57	5.86	1.61	0.23674	von Willebrand factor, type A (3);	0.664446	0.15164	N	0.277010	T	0.07279	0.0184	N	0.25332	0.735	0.53688	D	0.999978	B	0.28026	0.198	B	0.28784	0.094	T	0.29792	-1.0000	10	0.11794	T	0.64	.	3.7737	0.08652	0.254:0.4211:0.0:0.3249	.	1761	A3KMH1	K0564_HUMAN	I	1665;1761	ENSP00000368612:V1761I	ENSP00000251030:V1665I	V	-	1	0	KIAA0564	41047965	0.983000	0.35010	0.964000	0.40570	0.556000	0.35491	0.586000	0.23894	0.260000	0.21731	-0.150000	0.13652	GTT	VWA8	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000102763		0.358	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	-	0	33	0	C	NM_015058		42149965	-1	tier1	-	no_errors	ENST00000379310	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.843	T	T	42149965	C	T	42149965	3	4	159	1	0	0	0	0	1	0	0	0	8212	536	19	1	448	1	KIAA0564	13	42149965	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		42149965	73019913	154	40432											
ZC3H13	23091	genome.wustl.edu	37	chr13	46559795	46559795	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccgatcccgaccatctcGaggttctctgtcatctctgt	5	14	7	15	3	5	0	1	0	4	0	10	3	6	0	3	1	0	1	3	1	0	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr13:46559795G>A	ENST00000242848.4	-	10	1705	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R453*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	453	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CGACCATCTCGAGGTTCTCTG	0.488																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													205	189	194					13																	46559795		2203	4300	6503	SO:0001587	stop_gained	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1357C>T	13.37:g.46559795G>A	ENSP00000242848:p.Arg453*		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R453*	ENST00000242848.4	37	c.1357		13	.	.	.	.	.	.	.	.	.	.	G	41	9.135254	0.99077	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	.	.	.	5.72	4.87	0.63330	.	0.000000	0.49305	D	0.000142	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1598	0.81693	0.0:0.0:0.8655:0.1345	.	.	.	.	X	453;453;269	.	ENSP00000242848:R453X	R	-	1	2	ZC3H13	45457796	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.897000	0.69831	1.399000	0.46721	0.591000	0.81541	CGA	ZC3H13	-	NULL	ENSG00000123200		0.488	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1		0	11	0	G	NM_015070		46559795	-1			no_errors	ENST00000242848	ensembl	human	known	74_37	nonsense	21.43	11	3	SNP	1.000	A	A	46559795	G	A	46559795	4	1	159	1	0	0	0	0	0	1	0	0	17613	1066	37	1	3369	1	ZC3H13	13	46559795	Nonsense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	4409830	46559795	68610083	155	40433											
TBC1D4	9882	genome.wustl.edu	37	chr13	75923344	75923344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttatgcaaagagtgcatcGggcaggcctcacacagttta	11	9	11	10	1	1	1	1	0	0	1	2	1	1	1	1	2	2	5	1	2	3	3	rs375499221	byFrequency	TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr13:75923344G>C	ENST00000377636.3	-	5	1716	c.1370C>G	c.(1369-1371)cCg>cGg	p.P457R	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P457R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	457	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.P457R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGAGTGCATCGGGCAGGCCTC	0.478																																																	1	Substitution - Missense(1)	breast(1)											69	69	69					13																	75923344		1931	4129	6060	SO:0001583	missense	0			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.1370C>G	13.37:g.75923344G>C	ENSP00000366863:p.Pro457Arg		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.P457R	ENST00000377636.3	37	c.1370	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025993	0.93518	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.19669	2.2;2.13;2.26	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.52125	0.1715	M	0.77486	2.375	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	0.50750	-0.8791	10	0.87932	D	0	-22.5512	20.5875	0.99426	0.0:0.0:1.0:0.0	.	457;457;457	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	R	457	ENSP00000366863:P457R;ENSP00000395986:P457R;ENSP00000366852:P457R	ENSP00000366852:P457R	P	-	2	0	TBC1D4	74821345	1.000000	0.71417	0.979000	0.43373	0.955000	0.61496	9.326000	0.96389	2.861000	0.98227	0.643000	0.83706	CCG	TBC1D4	-	NULL	ENSG00000136111		0.478	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	-	0	37	0	G	NM_014832		75923344	-1	tier1	-	no_errors	ENST00000377636	ensembl	human	known	74_37	missense	32.61	31	15	SNP	1.000	C	C	75923344	G	C	75923344	3	2	159	1	0	0	0	0	1	0	0	0	15669	1116	39	5	2594	5	TBC1D4	13	75923344	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	29363549	75923344	39246534	156	40434											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72205004	72205004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttctaaagtggaccagctgGaaggtatgctgaagatgctt	11	11	12	7	0	1	2	0	1	1	1	1	4	1	4	1	3	3	4	1	3	5	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr14:72205004G>A	ENST00000555818.1	+	21	5581	c.5233G>A	c.(5233-5235)Gaa>Aaa	p.E1745K	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1723K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1724K|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E1198K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1745					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)		GGACCAGCTGGAAGGTATGCT	0.468																																																	0													113	97	103					14																	72205004		2203	4300	6503	SO:0001583	missense	0			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.5233G>A	14.37:g.72205004G>A	ENSP00000450832:p.Glu1745Lys		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.E1745K	ENST00000555818.1	37	c.5233	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.747794	0.96882	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	L	0.60455	1.87	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.997;0.989;1.0;0.915	D;D;D;D;P	0.85130	0.997;0.992;0.954;0.997;0.831	T	0.64058	-0.6496	10	0.87932	D	0	-25.4975	20.3206	0.98668	0.0:0.0:1.0:0.0	.	1198;1744;1198;1724;1745	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	K	1724;1745;1723;1198	ENSP00000370630:E1724K;ENSP00000450832:E1745K;ENSP00000351352:E1723K;ENSP00000440682:E1198K	ENSP00000351352:E1745K	E	+	1	0	SIPA1L1	71274757	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.624000	0.98398	2.813000	0.96785	0.561000	0.74099	GAA	SIPA1L1	-	pfam_DUF3401	ENSG00000197555		0.468	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	-	0	88	0	G	NM_015556		72205004	1	tier1	-	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	10.00	72	8	SNP	1.000	A	A	72205004	G	A	72205004	3	1	159	1	0	0	0	0	1	0	0	0	14374	1175	41	3	5311	3	SIPA1L1	14	72205004	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09		72205004	35144536	157	40435											
TMEM63C	57156	genome.wustl.edu	37	chr14	77703030	77703030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcaccaacttcatgttCatggctcatcactgcctggg	8	13	7	13	0	6	0	6	0	0	0	6	0	6	0	2	2	2	2	2	2	1	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr14:77703030C>A	ENST00000298351.4	+	9	750	c.606C>A	c.(604-606)ttC>ttA	p.F202L		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	202					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ACTTCATGTTCATGGCTCATC	0.562																																																	0													133	139	137					14																	77703030		2128	4238	6366	SO:0001583	missense	0				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.606C>A	14.37:g.77703030C>A	ENSP00000298351:p.Phe202Leu		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	pfam_DUF221	p.F202L	ENST00000298351.4	37	c.606	CCDS45141.1	14	.	.	.	.	.	.	.	.	.	.	c	3.665	-0.068756	0.07228	.	.	ENSG00000165548	ENST00000298351	T	0.37411	1.2	4.63	4.63	0.57726	.	0.046793	0.85682	D	0.000000	T	0.26593	0.0650	L	0.45285	1.41	0.30755	N	0.744729	B	0.02656	0.0	B	0.09377	0.004	T	0.22208	-1.0223	10	0.02654	T	1	-16.1655	13.3372	0.60524	0.0:0.9202:0.0:0.0798	.	202	Q9P1W3	TM63C_HUMAN	L	202	ENSP00000298351:F202L	ENSP00000298351:F202L	F	+	3	2	TMEM63C	76772783	1.000000	0.71417	0.980000	0.43619	0.038000	0.13279	1.656000	0.37355	2.281000	0.76405	0.550000	0.68814	TTC	TMEM63C	-	NULL	ENSG00000165548		0.562	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1		0	13	0	C			77703030	1			no_errors	ENST00000298351	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	77703030	C	A	77703030	3	1	159	1	0	0	0	0	1	0	0	0	16239	825	29	3	632	3	TMEM63C	14	77703030	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	5498026	77703030	29646510	158	40436											
CASC5	57082	genome.wustl.edu	37	chr15	40914039	40914039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gctccaaaatcttatgaccaCatcagaagatgggaaaatga	17	8	8	8	0	2	4	1	2	1	2	3	5	3	5	2	1	0	1	2	1	6	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr15:40914039C>T	ENST00000346991.5	+	11	2045	c.1655C>T	c.(1654-1656)aCa>aTa	p.T552I	CASC5_ENST00000399668.2_Missense_Mutation_p.T526I|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	552	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)		CTTATGACCACATCAGAAGAT	0.348																																																	0													71	67	68					15																	40914039		1889	4116	6005	SO:0001583	missense	0			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.1655C>T	15.37:g.40914039C>T	ENSP00000335463:p.Thr552Ile		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.T552I	ENST00000346991.5	37	c.1655	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.608505	0.00842	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.12569	2.67;2.67	5.41	2.93	0.34026	.	1.674110	0.02947	N	0.141234	T	0.06371	0.0164	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.35425	-0.9789	10	0.08837	T	0.75	.	6.0452	0.19755	0.0:0.1935:0.1331:0.6734	.	526;552;526	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	I	552;526;526	ENSP00000335463:T552I;ENSP00000382576:T526I	ENSP00000260369:T526I	T	+	2	0	CASC5	38701331	0.002000	0.14202	0.003000	0.11579	0.020000	0.10135	0.191000	0.17076	0.466000	0.27193	-0.455000	0.05494	ACA	CASC5	-	NULL	ENSG00000137812		0.348	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	-	0	51	0	C	NM_144508		40914039	1	tier1	-	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.001	T	T	40914039	C	T	40914039	3	4	159	1	0	0	0	0	1	0	0	0	2670	478	17	3	1693	3	CASC5	15	40914039	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		40914039	61617353	159	40437											
SPTBN5	51332	genome.wustl.edu	37	chr15	42169051	42169051	+	Silent	SNP	T	T	C	0	1	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	tgaaccagcttctcgccgtgTgcccgcagagcctctgcccg	5	8	11	17	4	2	2	0	1	2	1	3	2	2	2	5	0	5	2	5	0	1	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr15:42169051T>C	ENST00000320955.6	-	19	4034	c.3807A>G	c.(3805-3807)gcA>gcG	p.A1269A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1269					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)		TCTCGCCGTGTGCCCGCAGAG	0.672																																																	0													29	37	34					15																	42169051		2088	4208	6296	SO:0001819	synonymous_variant	0			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.3807A>G	15.37:g.42169051T>C				Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A1269	ENST00000320955.6	37	c.3807		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0	35	0	T	NM_016642		42169051	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	silent	15.38	32	6	SNP	0.006	C	C	42169051	T	C	42169051	2	2	159	1	0	0	0	0	0	0	0	1	15169	1683	59	4		4	SPTBN5	15	42169051	Silent	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	1255012	42169051	60362341	160	40438											
UBR1	197131	genome.wustl.edu	37	chr15	43348619	43348619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatcatcactgatatattCtttctgcagttgtttataat	11	19	5	6	0	4	2	2	2	2	0	4	2	4	2	0	0	1	3	0	0	4	8			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr15:43348619C>T	ENST00000290650.4	-	11	1282	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	UBR1_ENST00000382177.2_Missense_Mutation_p.E402K	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	402					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)		CTGATATATTCTTTCTGCAGT	0.294																																																	0													89	94	92					15																	43348619		2203	4297	6500	SO:0001583	missense	0				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.1204G>A	15.37:g.43348619C>T	ENSP00000290650:p.Glu402Lys		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E402K	ENST00000290650.4	37	c.1204	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643435	0.87859	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.70749	0.33;-0.51	5.14	5.14	0.70334	.	0.214084	0.48286	D	0.000188	T	0.58836	0.2150	L	0.43152	1.355	0.80722	D	1	B;P	0.39665	0.032;0.682	B;B	0.32980	0.016;0.156	T	0.60606	-0.7230	10	0.06236	T	0.91	-0.0573	18.7978	0.92003	0.0:1.0:0.0:0.0	.	402;402	B4DYL2;Q8IWV7	.;UBR1_HUMAN	K	402	ENSP00000290650:E402K;ENSP00000371612:E402K	ENSP00000290650:E402K	E	-	1	0	UBR1	41135911	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	5.441000	0.66569	2.675000	0.91044	0.650000	0.86243	GAA	UBR1	-	NULL	ENSG00000159459		0.294	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	-	0	61	0	C	NM_174916		43348619	-1	tier1	-	no_errors	ENST00000290650	ensembl	human	known	74_37	missense	18.31	58	13	SNP	1.000	T	T	43348619	C	T	43348619	3	4	159	1	0	0	0	0	1	0	0	0	16950	922	32	3	4193	3	UBR1	15	43348619	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	1179568	43348619	59182773	161	40439											
CASC4	113201	genome.wustl.edu	37	chr15	44620946	44620946	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcttcaggactataggaAgaacaatacttaccttgtga	14	10	8	9	0	1	2	1	1	0	1	1	4	1	4	2	2	4	1	2	2	7	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr15:44620946A>T	ENST00000345795.2	+	3	716	c.446A>T	c.(445-447)aAg>aTg	p.K149M	CASC4_ENST00000299957.6_Missense_Mutation_p.K149M|CASC4_ENST00000360824.3_Missense_Mutation_p.K149M	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	149						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GACTATAGGAAGAACAATACT	0.383																																																	0													93	85	88					15																	44620946		2198	4298	6496	SO:0001583	missense	0			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.446A>T	15.37:g.44620946A>T	ENSP00000335063:p.Lys149Met		B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	NULL	p.K149M	ENST00000345795.2	37	c.446	CCDS10109.1	15	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540653	0.85917	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000360824;ENST00000416522	D;D	0.85088	-1.94;-1.94	5.96	5.96	0.96718	.	0.043938	0.85682	D	0.000000	D	0.91710	0.7379	M	0.73217	2.22	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.98;0.997;0.991	D	0.92476	0.5989	10	0.87932	D	0	.	15.431	0.75099	1.0:0.0:0.0:0.0	.	149;149;149	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	M	149;149;149;128	ENSP00000299957:K149M;ENSP00000335063:K149M	ENSP00000299957:K149M	K	+	2	0	CASC4	42408238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.930000	0.70104	2.285000	0.76669	0.533000	0.62120	AAG	CASC4	-	NULL	ENSG00000166734		0.383	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC4	HGNC	protein_coding	OTTHUMT00000253816.1	-	0	46	0	A	NM_138423		44620946	1	tier1	-	no_errors	ENST00000299957	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	T	T	44620946	A	T	44620946	3	4	159	1	0	0	0	0	1	0	0	0	2669	72	3	5	456	5	CASC4	15	44620946	Missense_Mutation	SNP	A	TCGA-V5-AASW-01A-11D-A403-09	1272327	44620946	57910446	162	40440											
HDC	3067	genome.wustl.edu	37	chr15	50549624	50549624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgccaagggaggtacctGcaggacgcctccgccctggc	6	7	13	15	2	0	0	0	0	0	0	1	2	1	2	5	4	3	2	5	4	2	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr15:50549624G>T	ENST00000267845.3	-	4	841	c.439C>A	c.(439-441)Cag>Aag	p.Q147K	HDC_ENST00000543581.1_Missense_Mutation_p.Q147K	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)		GGAGGTACCTGCAGGACGCCT	0.557																																					GBM(95;1627 1936 6910 9570)												0													107	94	98					15																	50549624		2196	4295	6491	SO:0001583	missense	0				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.439C>A	15.37:g.50549624G>T	ENSP00000267845:p.Gln147Lys			Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.Q147K	ENST00000267845.3	37	c.439	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594854	0.66219	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.38401	1.14;1.14	5.13	5.13	0.70059	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.84579	0.0660	10	0.87932	D	0	-19.8613	18.7731	0.91900	0.0:0.0:1.0:0.0	.	147;147	B7ZM01;P19113	.;DCHS_HUMAN	K	147	ENSP00000267845:Q147K;ENSP00000440252:Q147K	ENSP00000267845:Q147K	Q	-	1	0	HDC	48336916	1.000000	0.71417	0.967000	0.41034	0.022000	0.10575	9.657000	0.98554	2.675000	0.91044	0.655000	0.94253	CAG	HDC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	ENSG00000140287		0.557	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	HGNC	protein_coding	OTTHUMT00000254540.1	-	0	31	0	G			50549624	-1	tier1	-	no_errors	ENST00000267845	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	50549624	G	T	50549624	3	4	159	1	0	0	0	0	1	0	0	0	7042	1328	46	3	1585	3	HDC	15	50549624	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	5928678	50549624	51981768	163	40441											
UNC13C	440279	genome.wustl.edu	37	chr15	54306750	54306751	+	Missense_Mutation	DNP	AT	AT	TA																															gctaaacttagtcgttctgaAtcagatttttccaaattgtg																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A|T	A|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr15:54306750_54306751AT>TA	ENST00000260323.11	+	1	1650_1651	c.1650_1651AT>TA	c.(1648-1653)gaATca>gaTAca	p.550_551ES>DT	UNC13C_ENST00000545554.1_Missense_Mutation_p.550_551ES>DT|UNC13C_ENST00000537900.1_Missense_Mutation_p.550_551ES>DT	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	550					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)		GTCGTTCTGAATCAGATTTTTC	0.396																																																	0																																										SO:0001583	missense	0			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	Exception_encountered	15.37:g.54306750_54306751delinsTA	ENSP00000260323:p.E550_S551delinsDT		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E550D|p.S551T	ENST00000260323.11	37	c.1650|c.1651	CCDS45264.1	15																																																																																			UNC13C	-	NULL	ENSG00000137766		0.396	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	22	0	A|T	NM_173166		54306750|54306751	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	42.42|44.12	19	14|15	SNP	0.989|1.000	T|A	TA	54306751	AT	TA	54306750	3	4	159	1	0	0	0	0	1	0	0	0	17035	98	4	5	1652	5	UNC13C	15	54306750	Missense_Mutation	DNP	AT	TCGA-V5-AASW-01A-11D-A403-09	3757126	54306750	48224642	164	40442											
TCF12	6938	genome.wustl.edu	37	chr15	57526275	57526276	+	Frame_Shift_Ins	INS	-	-	CT																															ctgctggaagctcacagacaINSggtgatgcacttggaaaggc																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr15:57526275_57526276insCT	ENST00000267811.5	+	12	1309_1310	c.1005_1006insCT	c.(1006-1008)ggtfs	p.G336fs	TCF12_ENST00000452095.2_Frame_Shift_Ins_p.G332fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.G336fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.G166fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.G336fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.G166fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.G336fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.G100fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	336					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)		GCTCACAGACAGGTGATGCACT	0.366			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	0																																										SO:0001589	frameshift_variant	0			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	Exception_encountered	15.37:g.57526275_57526276insCT	ENSP00000267811:p.Gly336fs		Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Ins	INS	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G335fs	ENST00000267811.5	37	c.1005_1006	CCDS10159.1	15																																																																																			TCF12	-	NULL	ENSG00000140262		0.366	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	HGNC	protein_coding	OTTHUMT00000255069.3		0	55	0	-	NM_003205		57526276	1	tier1		no_errors	ENST00000438423	ensembl	human	known	74_37	frame_shift_ins	43.14	29	22	INS	0.959:1.000	CT	CT	57526276	-	CT	57526275	7	5	159	1	0	1	1	0	0	0	0	0	15734	175	7	0	1120	0	TCF12	15	57526275	Frame_Shift_Ins	INS	-	TCGA-V5-AASW-01A-11D-A403-09	3219525	57526275	45005117	165	40443											
HERC1	8925	genome.wustl.edu	37	chr15	63916468	63916468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactcttggggctaacaaaGgccgaagttgtccctgtaca	11	9	11	10	1	1	1	0	0	1	1	2	2	2	1	2	3	2	3	2	3	4	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr15:63916468G>A	ENST00000443617.2	-	72	13421	c.13334C>T	c.(13333-13335)cCt>cTt	p.P4445L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4445					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						GGCTAACAAAGGCCGAAGTTG	0.453																																																	0													145	133	137					15																	63916468		1897	4127	6024	SO:0001583	missense	0			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.13334C>T	15.37:g.63916468G>A	ENSP00000390158:p.Pro4445Leu		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.P4445L	ENST00000443617.2	37	c.13334	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952060	0.92660	.	.	ENSG00000103657	ENST00000443617	T	0.24538	1.85	5.3	5.3	0.74995	.	0.073871	0.53938	U	0.000056	T	0.25717	0.0626	L	0.43152	1.355	0.80722	D	1	P	0.41313	0.745	B	0.36418	0.224	T	0.04191	-1.0970	10	0.54805	T	0.06	.	19.3238	0.94253	0.0:0.0:1.0:0.0	.	4445	Q15751	HERC1_HUMAN	L	4445	ENSP00000390158:P4445L	ENSP00000390158:P4445L	P	-	2	0	HERC1	61703521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.531000	0.67148	2.614000	0.88457	0.655000	0.94253	CCT	HERC1	-	NULL	ENSG00000103657		0.453	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	59	0	G	NM_003922		63916468	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	63916468	G	A	63916468	3	1	159	1	0	0	0	0	1	0	0	0	7084	1000	35	3	1279	3	HERC1	15	63916468	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	6390193	63916468	38614924	166	40444											
LARP6	55323	genome.wustl.edu	37	chr15	71128817	71128817	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctccaggtcctcacgctcGttctcacctccacttgcagt	5	12	7	17	2	2	0	2	0	1	0	7	0	5	0	4	1	2	4	4	1	0	2	rs138869907		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr15:71128817G>A	ENST00000299213.8	-	2	298	c.228C>T	c.(226-228)aaC>aaT	p.N76N		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	76					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CCTCACGCTCGTTCTCACCTC	0.512													G|||	1	0.000199681	0	0	5008	,	,		18903	0.001		0	False		,,,				2504	0																0								G		1,4397	2.1+/-5.4	0,1,2198	76	78	77		228	-11.2	0	15	dbSNP_134	77	0,8594		0,0,4297	no	coding-synonymous	LARP6	NM_018357.2		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		76/492	71128817	1,12991	2199	4297	6496	SO:0001819	synonymous_variant	0			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.228C>T	15.37:g.71128817G>A			Q5XKE4|Q8N3N2|Q9NUR0	Silent	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La	p.N76	ENST00000299213.8	37	c.228	CCDS32281.1	15																																																																																			LARP6	-	NULL	ENSG00000166173		0.512	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP6	HGNC	protein_coding	OTTHUMT00000417197.2	-	0	32	0	G	NM_018357		71128817	-1	tier1	rs138869907	no_errors	ENST00000299213	ensembl	human	known	74_37	silent	47.83	12	11	SNP	0.004	A	A	71128817	G	A	71128817	2	1	159	1	0	0	0	0	0	0	0	1	8660	1136	40	1		1	LARP6	15	71128817	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	7212349	71128817	31402575	167	40445											
HMG20A	10363	genome.wustl.edu	37	chr15	77759475	77759475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttggtccaaaggaagaaaGaggaagaaacctcttcgaga	16	6	13	6	1	1	4	0	0	1	4	3	7	2	6	2	4	1	1	2	4	5	2	rs144562040		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr15:77759475G>A	ENST00000381714.3	+	5	704	c.276G>A	c.(274-276)aaG>aaA	p.K92K	HMG20A_ENST00000336216.4_Silent_p.K92K	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	92					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						AAGGAAGAAAGAGGAAGAAAC	0.423																																																	0								G		1,4391	2.1+/-5.4	0,1,2195	81	78	79		276	4.1	1	15	dbSNP_134	79	0,8588		0,0,4294	no	coding-synonymous	HMG20A	NM_018200.2		0,1,6489	AA,AG,GG		0.0,0.0228,0.0077		92/348	77759475	1,12979	2196	4294	6490	SO:0001819	synonymous_variant	0			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.276G>A	15.37:g.77759475G>A			A6NHY3|D3DW78|Q53G31|Q9NSF6	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.K92	ENST00000381714.3	37	c.276	CCDS10295.1	15																																																																																			HMG20A	-	superfamily_HMG_box_dom	ENSG00000140382		0.423	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20A	HGNC	protein_coding	OTTHUMT00000419512.2	-	0	62	0	G	NM_018200		77759475	1	tier1	rs144562040	no_errors	ENST00000336216	ensembl	human	known	74_37	silent	8.00	69	6	SNP	1.000	A	A	77759475	G	A	77759475	2	1	159	1	0	0	0	0	0	0	0	1	7248	933	33	3		3	HMG20A	15	77759475	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	6630658	77759475	24771917	168	40446											
NLRC3	197358	genome.wustl.edu	37	chr16	3602277	3602277	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgatgctgttcttctgCaggctgtgggagaaaagaga	9	9	15	8	1	2	2	0	0	2	2	2	5	2	2	1	3	2	4	1	3	2	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr16:3602277C>A	ENST00000301749.7	-	0	2676				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						TGTTCTTCTGCAGGCTGTGGG	0.552																																																	0													65	61	62					16																	3602277		1915	4145	6060			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3602277C>A			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L804	ENST00000301749.7	37	c.2412		16																																																																																			NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000167984		0.552	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		-	0	31	0	C	NM_178844		3602277	-1	tier1	-	no_errors	ENST00000448023	ensembl	human	known	74_37	silent	33.33	16	8	SNP	0.993	A	A	3602277	C	A	3602277	1	1	159	0	1	0	0	0	0	0	0	0	10507	697	25	3		3	NLRC3	16	3602277	RNA	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		3602277	86752476	169	40447											
TMC5	79838	genome.wustl.edu	37	chr16	19509283	19509283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaagaaggtaatccaaggGcctgatgactcttttggtaa	12	12	10	7	0	2	3	1	2	1	1	3	3	3	3	2	3	0	2	2	3	5	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr16:19509283G>T	ENST00000396229.2	+	22	3765	c.3016G>T	c.(3016-3018)Gcc>Tcc	p.A1006S	TMC5_ENST00000561503.1_Missense_Mutation_p.A647S|TMC5_ENST00000381414.4_Missense_Mutation_p.A948S|TMC5_ENST00000541464.1_Missense_Mutation_p.A954S|TMC5_ENST00000542583.2_Missense_Mutation_p.A1006S|TMC5_ENST00000219821.5_Missense_Mutation_p.A760S|TMC5_ENST00000564959.1_Missense_Mutation_p.A689S|RNU4-46P_ENST00000410818.1_RNA	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	1006					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						TAATCCAAGGGCCTGATGACT	0.463																																																	0													220	198	206					16																	19509283		2197	4300	6497	SO:0001583	missense	0			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.3016G>T	16.37:g.19509283G>T	ENSP00000379531:p.Ala1006Ser		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	pfam_TMC	p.A1006S	ENST00000396229.2	37	c.3016	CCDS45431.1	16	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415538	0.25552	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821	T;T;T;T;T	0.70164	-0.23;-0.16;-0.32;-0.32;-0.46	4.44	0.108	0.14548	.	48.651600	0.00166	N	0.000000	T	0.53786	0.1818	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.25441	0.126;0.015;0.045;0.126	B;B;B;B	0.21546	0.035;0.013;0.013;0.035	T	0.33523	-0.9865	10	0.46703	T	0.11	1.5638	1.5077	0.02489	0.1896:0.1668:0.4717:0.1719	.	954;760;1006;948	F5GYU8;Q6UXY8-3;Q6UXY8;Q6UXY8-2	.;.;TMC5_HUMAN;.	S	954;948;1006;1006;760	ENSP00000441227:A954S;ENSP00000370822:A948S;ENSP00000379531:A1006S;ENSP00000446274:A1006S;ENSP00000219821:A760S	ENSP00000219821:A760S	A	+	1	0	TMC5	19416784	0.001000	0.12720	0.000000	0.03702	0.063000	0.16089	0.305000	0.19254	0.071000	0.16664	-0.140000	0.14226	GCC	TMC5	-	NULL	ENSG00000103534		0.463	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1		0	74	0	G	NM_024780		19509283	1			no_errors	ENST00000396229	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.000	T	T	19509283	G	T	19509283	3	4	159	1	0	0	0	0	1	0	0	0	16035	1203	42	3	3408	3	TMC5	16	19509283	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	15907006	19509283	70845470	170	40448											
LOC100132247	100132247	genome.wustl.edu	37	chr16	22545580	22545585	+	In_Frame_Del	DEL	AATCTC	AATCTC	-																															ttccaccctcagcggatgatAatctcaagacaccttccgag																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	AATCTC	AATCTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr16:22545580_22545585delAATCTC	ENST00000517539.1	+	8	1351_1356	c.1276_1281delAATCTC	c.(1276-1281)aatctcdel	p.NL426del	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_In_Frame_Del_p.NL426del			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	426	Pro-rich.					integral component of membrane (GO:0016021)											AGCGGATGATAATCTCAAGACACCTT	0.597																																																	0										2,380		1,0,190							0			1	16,654		5,6,324	no	coding	LOC100132247	NM_001135865.1		6,6,514	A1A1,A1R,RR		2.3881,0.5236,1.711				18,1034				SO:0001651	inframe_deletion	0				CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1276_1281delAATCTC	16.37:g.22545580_22545585delAATCTC	ENSP00000430633:p.Asn426_Leu427del		B4DK13	In_Frame_Del	DEL	NULL	p.NL426in_frame_del	ENST00000517539.1	37	c.1276_1281	CCDS45443.1	16																																																																																			NPIPB5	-	NULL	ENSG00000243716		0.597	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NPIPB5	HGNC	protein_coding	OTTHUMT00000374343.2		0	11	0	AATCTC	NM_001135865		22545585	1			no_errors	ENST00000424340	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	0.851:0.854:0.851:0.851:0.843:0.838	0	-	22545585	AATCTC	-	22545580	7	5	159	1	0	1	0	1	0	0	0	0	8900	362	13	0	1302	0	LOC100132247	16	22545580	In_Frame_Del	DEL	AATCTC	TCGA-V5-AASW-01A-11D-A403-09	3036297	22545580	67809173	171	40449											
NSMCE1	197370	genome.wustl.edu	37	chr16	27268847	27268847	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaactggaggaagcgccgGtggacatcagtcatgacgcc	11	5	14	11	3	2	1	2	1	0	0	2	4	2	4	2	4	3	1	2	4	2	0			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr16:27268847G>A	ENST00000361439.4	-	2	144	c.45C>T	c.(43-45)caC>caT	p.H15H		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	15	Interaction with NDNL2.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						GGAAGCGCCGGTGGACATCAG	0.542																																																	0													89	94	92					16																	27268847		2119	4227	6346	SO:0001819	synonymous_variant	0			AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.45C>T	16.37:g.27268847G>A			D3DWF6|Q9P045|Q9P049	Silent	SNP	pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING	p.H15	ENST00000361439.4	37	c.45	CCDS10628.2	16																																																																																			NSMCE1	-	pfam_Nse1	ENSG00000169189		0.542	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE1	HGNC	protein_coding	OTTHUMT00000254577.3		0	29	0	G	NM_145080		27268847	-1			no_errors	ENST00000361439	ensembl	human	known	74_37	silent	12.00	22	3	SNP	1.000	A	A	27268847	G	A	27268847	2	1	159	1	0	0	0	0	0	0	0	1	10714	1252	44	3		3	NSMCE1	16	27268847	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	4723267	27268847	63085906	172	40450											
KIF22	3835	genome.wustl.edu	37	chr16	29808330	29808330	+	Frame_Shift_Del	DEL	C	C	-																															gaacagcgggagcaagtgatCccccctgtgtgcggggcatg																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr16:29808330delC	ENST00000160827.4	+	2	227	c.187delC	c.(187-189)cccfs	p.P64fs	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_5'UTR|KIF22_ENST00000569382.2_5'UTR|KIF22_ENST00000400751.5_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	64	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)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGCAAGTGATCCCCCCTGTGT	0.572																																																	0													118	110	112					16																	29808330		2197	4296	6493	SO:0001589	frameshift_variant	0			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.187delC	16.37:g.29808330delC	ENSP00000160827:p.Pro64fs		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.C65fs	ENST00000160827.4	37	c.187	CCDS10653.1	16																																																																																			KIF22	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000079616		0.572	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2		0	22	0	C			29808330	1	tier1		no_errors	ENST00000160827	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	0.000	-	-	29808330	C	-	29808330	7	5	159	1	0	1	0	1	0	0	0	0	8317	855	30	0	193	0	KIF22	16	29808330	Frame_Shift_Del	DEL	C	TCGA-V5-AASW-01A-11D-A403-09	2539483	29808330	60546423	173	40451											
ITGAL	3683	genome.wustl.edu	37	chr16	30531228	30531228	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcagatgctctacctctaCgtgctgagcggcatcggggg	8	8	14	11	3	2	2	0	1	2	1	3	2	2	2	1	3	6	4	1	3	3	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr16:30531228C>A	ENST00000356798.6	+	30	3459	c.3279C>A	c.(3277-3279)taC>taA	p.Y1093*	ITGAL_ENST00000433423.2_Nonsense_Mutation_p.Y327*|ITGAL_ENST00000358164.5_Nonsense_Mutation_p.Y1009*	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1093					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TCTACCTCTACGTGCTGAGCG	0.582																																					NSCLC(110;1462 1641 3311 33990 49495)												0													180	160	166					16																	30531228		2197	4300	6497	SO:0001587	stop_gained	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3279C>A	16.37:g.30531228C>A	ENSP00000349252:p.Tyr1093*		O43746|Q45H73|Q96HB1|Q9UBC8	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.Y1093*	ENST00000356798.6	37	c.3279	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442956	0.43326	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	.	.	.	5.35	-2.35	0.06684	.	0.000000	0.49305	D	0.000141	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	12.2394	0.54534	0.0:0.4905:0.0:0.5095	.	.	.	.	X	1093;1009;327	.	ENSP00000349252:Y1093X	Y	+	3	2	ITGAL	30438729	0.000000	0.05858	0.182000	0.23118	0.177000	0.22998	-1.953000	0.01526	-0.516000	0.06470	-1.598000	0.00824	TAC	ITGAL	-	NULL	ENSG00000005844		0.582	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2		0	19	0	C			30531228	1			no_errors	ENST00000356798	ensembl	human	known	74_37	nonsense	11.11	16	2	SNP	0.032	A	A	30531228	C	A	30531228	4	1	159	1	0	0	0	0	0	1	0	0	7913	547	19	2	3397	2	ITGAL	16	30531228	Nonsense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	722898	30531228	59823525	174	40452											
RPGRIP1L	23322	genome.wustl.edu	37	chr16	53682892	53682892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaccgactgcatatgctctGgccccttaaaatttgatgtt	9	15	7	10	1	1	1	0	1	1	0	1	2	1	1	3	1	3	3	3	1	4	5			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr16:53682892G>T	ENST00000379925.3	-	16	2338	c.2288C>A	c.(2287-2289)cCa>cAa	p.P763Q	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.P763Q|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.P763Q|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.P763Q	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	763					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)				CATATGCTCTGGCCCCTTAAA	0.358																																																	0													105	97	99					16																	53682892		2198	4300	6498	SO:0001583	missense	0				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.2288C>A	16.37:g.53682892G>T	ENSP00000369257:p.Pro763Gln		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P763Q	ENST00000379925.3	37	c.2288	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	G	5.940	0.357488	0.11239	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.75938	-0.78;-0.98	6.08	4.1	0.47936	.	0.417989	0.26069	N	0.026534	T	0.56171	0.1967	N	0.24115	0.695	0.49213	D	0.999769	B;B;B;B	0.33883	0.103;0.103;0.43;0.132	B;B;B;B	0.26416	0.035;0.035;0.052;0.069	T	0.53989	-0.8360	10	0.42905	T	0.14	-1.2134	9.3742	0.38272	0.0684:0.0:0.6295:0.3021	.	763;763;763;763	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	Q	763	ENSP00000369257:P763Q;ENSP00000262135:P763Q	ENSP00000262135:P763Q	P	-	2	0	RPGRIP1L	52240393	1.000000	0.71417	0.246000	0.24233	0.017000	0.09413	1.315000	0.33608	0.873000	0.35799	0.591000	0.81541	CCA	RPGRIP1L	-	NULL	ENSG00000103494		0.358	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1		0	118	0	G	NM_015272		53682892	-1			no_errors	ENST00000379925	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.673	T	T	53682892	G	T	53682892	3	4	159	1	0	0	0	0	1	0	0	0	13595	1348	47	3	1707	3	RPGRIP1L	16	53682892	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	23151664	53682892	36671861	175	40453											
PARD6A	50855	genome.wustl.edu	37	chr16	67695843	67695843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctccaactctctgcagCggcgcaagaaagggctcttg	8	9	11	13	2	2	1	0	0	2	1	4	1	3	1	2	2	4	3	2	2	3	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr16:67695843C>T	ENST00000219255.3	+	3	414	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	ENKD1_ENST00000602409.1_5'Flank|PARD6A_ENST00000602551.1_Missense_Mutation_p.R82W|ACD_ENST00000393919.4_5'Flank|PARD6A_ENST00000458121.2_Missense_Mutation_p.R111W|ACD_ENST00000219251.8_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	112	Interaction with PRKCI and PRKCZ.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	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)		CTCTCTGCAGCGGCGCAAGAA	0.622																																																	0													53	57	56					16																	67695843		2198	4300	6498	SO:0001583	missense	0				CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"par-6 (partitioning defective 6, C.elegans) homolog alpha", "par-6 partitioning defective 6 homolog alpha (C. elegans)"			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.334C>T	16.37:g.67695843C>T	ENSP00000219255:p.Arg112Trp		O14911|Q9NPJ7	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.R112W	ENST00000219255.3	37	c.334	CCDS10843.1	16	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492417	0.64074	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.46063	0.88;0.9	5.42	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	M	0.79693	2.465	0.51233	D	0.999913	D;D	0.89917	1.0;1.0	D;D	0.83275	0.973;0.996	T	0.71364	-0.4615	10	0.87932	D	0	-12.9227	13.987	0.64341	0.1579:0.8421:0.0:0.0	.	112;111	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	W	111;112	ENSP00000392388:R111W;ENSP00000219255:R112W	ENSP00000219255:R112W	R	+	1	2	PARD6A	66253344	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.794000	0.38774	1.219000	0.43474	0.563000	0.77884	CGG	PARD6A	-	NULL	ENSG00000102981		0.622	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD6A	HGNC	protein_coding	OTTHUMT00000268863.2		0	10	0	C	NM_016948		67695843	1			no_errors	ENST00000219255	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	67695843	C	T	67695843	3	4	159	1	0	0	0	0	1	0	0	0	11484	759	27	1	344	1	PARD6A	16	67695843	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	14012951	67695843	22658910	176	40454											
ITGAE	3682	genome.wustl.edu	37	chr17	3654953	3654953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatgggtcacctgcgagggGctggcggagaggccgtccca	6	5	17	13	3	1	1	1	0	0	1	2	3	2	1	4	6	1	1	4	6	0	0			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr17:3654953G>T	ENST00000263087.4	-	15	1982	c.1884C>A	c.(1882-1884)agC>agA	p.S628R		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	628					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)		CCTGCGAGGGGCTGGCGGAGA	0.607																																					NSCLC(182;635 2928 8995 38788)												0													55	63	61					17																	3654953		2203	4300	6503	SO:0001583	missense	0			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.1884C>A	17.37:g.3654953G>T	ENSP00000263087:p.Ser628Arg		Q17RS6|Q9NZU9	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.S628R	ENST00000263087.4	37	c.1884	CCDS32531.1	17	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343458	0.41498	.	.	ENSG00000083457	ENST00000263087	T	0.81330	-1.48	3.14	-1.91	0.07641	.	.	.	.	.	T	0.67859	0.2938	L	0.45051	1.395	0.58432	D	0.999994	B	0.12630	0.006	B	0.08055	0.003	T	0.52946	-0.8507	9	0.62326	D	0.03	.	4.5517	0.12116	0.3276:0.1638:0.5086:0.0	.	628	P38570	ITAE_HUMAN	R	628	ENSP00000263087:S628R	ENSP00000263087:S628R	S	-	3	2	ITGAE	3601702	0.023000	0.18921	0.012000	0.15200	0.596000	0.36781	0.091000	0.15046	-0.479000	0.06813	0.555000	0.69702	AGC	ITGAE	-	smart_Int_alpha_beta-p	ENSG00000083457		0.607	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1		0	57	0	G	NM_002208		3654953	-1			no_errors	ENST00000263087	ensembl	human	known	74_37	missense	5.71	32	2	SNP	0.877	T	T	3654953	G	T	3654953	3	4	159	1	0	0	0	0	1	0	0	0	7912	1194	42	3	1723	3	ITGAE	17	3654953	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09		3654953	77540257	177	40455											
MINK1	50488	genome.wustl.edu	37	chr17	4796810	4796810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggactactcgtcgtccagcGaggaggtggaaagcagtgag	10	7	16	8	3	0	1	0	1	0	0	3	5	1	4	1	4	3	1	1	4	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr17:4796810G>A	ENST00000355280.6	+	21	2678	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	MINK1_ENST00000453408.3_Missense_Mutation_p.E808K|MINK1_ENST00000347992.7_Missense_Mutation_p.E799K	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GTCGTCCAGCGAGGAGGTGGA	0.647																																																	0													50	59	56					17																	4796810		1970	4129	6099	SO:0001583	missense	0			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2482G>A	17.37:g.4796810G>A	ENSP00000347427:p.Glu828Lys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.E828K	ENST00000355280.6	37	c.2482	CCDS45588.1	17	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432739	0.83776	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.79033	-1.23;-1.23;-1.23	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.79701	0.4491	M	0.74647	2.275	0.49798	D	0.999829	D;D;D;D	0.60575	0.988;0.972;0.98;0.988	P;P;B;P	0.45037	0.467;0.467;0.277;0.467	D	0.83863	0.0269	10	0.72032	D	0.01	.	15.4054	0.74874	0.0:0.0:1.0:0.0	.	791;808;828;799	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	K	828;808;799	ENSP00000347427:E828K;ENSP00000406487:E808K;ENSP00000269296:E799K	ENSP00000269296:E799K	E	+	1	0	MINK1	4737586	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.359000	0.90093	2.497000	0.84241	0.561000	0.74099	GAG	MINK1	-	NULL	ENSG00000141503		0.647	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000439801.1	-	0	41	0	G	NM_015716		4796810	1	tier1	-	no_errors	ENST00000355280	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	A	A	4796810	G	A	4796810	3	1	159	1	0	0	0	0	1	0	0	0	9625	1059	37	1	2331	1	MINK1	17	4796810	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	1141857	4796810	76398400	178	40456											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	0	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	24	0	C	NM_000546		7578406	-1	tier1	rs28934578	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	75.00	6	18	SNP	1.000	T	T	7578406	C	T	7578406	3	4	159	1	0	0	0	0	1	0	0	0	16429	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	2781596	7578406	73616804	179	40457											
MYH4	4622	genome.wustl.edu	37	chr17	10348311	10348311	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accctggcctccagtttctgGatctgcttcttcccaccctt	4	14	6	17	0	3	0	0	0	3	0	5	1	5	1	5	2	1	2	5	2	0	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr17:10348311G>T	ENST00000255381.2	-	37	5558	c.5448C>A	c.(5446-5448)atC>atA	p.I1816I	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	1816					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.I1816M(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCAGTTTCTGGATCTGCTTCT	0.537																																																	1	Substitution - Missense(1)	lung(1)											173	165	168					17																	10348311		2203	4300	6503	SO:0001819	synonymous_variant	0				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.5448C>A	17.37:g.10348311G>T				Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1816	ENST00000255381.2	37	c.5448	CCDS11154.1	17																																																																																			MYH4	-	pfam_Myosin_tail	ENSG00000264424		0.537	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1		0	51	0	G	NM_017533		10348311	-1			no_errors	ENST00000255381	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	T	T	10348311	G	T	10348311	2	4	159	1	0	0	0	0	0	0	0	1	10075	1164	41	3		3	MYH4	17	10348311	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	2769905	10348311	70846899	180	40458											
KIAA0100	9703	genome.wustl.edu	37	chr17	26962375	26962375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgaacttgtcctcagctaCaaaagctgtgagcttggctg	11	11	10	9	0	1	2	1	2	0	0	2	2	2	2	1	1	5	4	1	1	5	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr17:26962375C>T	ENST00000528896.2	-	16	2304	c.2230G>A	c.(2230-2232)Gta>Ata	p.V744I	KIAA0100_ENST00000389003.3_Missense_Mutation_p.V601I|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.V601I|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	744						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)					TCCTCAGCTACAAAAGCTGTG	0.562																																																	0													103	94	97					17																	26962375		2203	4300	6503	SO:0001583	missense	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	ENST00000528896.2:c.2230G>A	17.37:g.26962375C>T	ENSP00000436773:p.Val744Ile		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.V744I	ENST00000528896.2	37	c.2230	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331797	0.81801	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.24350	1.87;1.86	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	M	0.66939	2.045	0.80722	D	1	D	0.58970	0.984	D	0.70016	0.967	T	0.29610	-1.0006	10	0.07644	T	0.81	.	19.8635	0.96793	0.0:1.0:0.0:0.0	.	744	Q14667	K0100_HUMAN	I	744;744;744;601	ENSP00000436773:V744I;ENSP00000446443:V601I	ENSP00000005905:V744I	V	-	1	0	KIAA0100	23986502	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.561000	0.67339	2.695000	0.91970	0.563000	0.77884	GTA	KIAA0100	-	NULL	ENSG00000007202		0.562	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	-	0	54	0	C	NM_014680		26962375	-1	tier1	-	no_errors	ENST00000528896	ensembl	human	known	74_37	missense	43.33	34	26	SNP	1.000	T	T	26962375	C	T	26962375	3	4	159	1	0	0	0	0	1	0	0	0	8181	478	17	3	4573	3	KIAA0100	17	26962375	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	16614064	26962375	54232835	181	40459											
FBXL20	84961	genome.wustl.edu	37	chr17	37420506	37420506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaggctatgacagctcttCaagtgctccagggatgcatc	10	10	10	11	0	3	1	2	1	1	0	5	2	4	2	1	2	3	4	1	2	3	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr17:37420506C>G	ENST00000264658.6	-	14	1385	c.1125G>C	c.(1123-1125)ttG>ttC	p.L375F	FBXL20_ENST00000577399.1_Missense_Mutation_p.L377F|FBXL20_ENST00000583610.1_Missense_Mutation_p.L375F|FBXL20_ENST00000394294.3_Missense_Mutation_p.L343F	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	375				L -> F (in Ref. 1; BAF84533). {ECO:0000305}.	behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GACAGCTCTTCAAGTGCTCCA	0.517																																																	0													151	129	137					17																	37420506		2203	4300	6503	SO:0001583	missense	0			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.1125G>C	17.37:g.37420506C>G	ENSP00000264658:p.Leu375Phe		A8K729|Q38J52	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.L375F	ENST00000264658.6	37	c.1125	CCDS32640.1	17	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907329	0.72868	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.11277	2.79;2.79	5.9	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.09100	-1.0690	10	0.66056	D	0.02	.	6.0707	0.19887	0.1386:0.655:0.1341:0.0723	.	343;375	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	F	375;343	ENSP00000264658:L375F;ENSP00000377832:L343F	ENSP00000264658:L375F	L	-	3	2	FBXL20	34674032	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.212000	0.32394	1.503000	0.48686	0.563000	0.77884	TTG	FBXL20	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000108306		0.517	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL20	HGNC	protein_coding	OTTHUMT00000444315.2		0	25	0	C	NM_032875		37420506	-1			no_errors	ENST00000264658	ensembl	human	known	74_37	missense	9.84	55	6	SNP	1.000	G	G	37420506	C	G	37420506	3	3	159	1	0	0	0	0	1	0	0	0	5739	825	29	5	193	5	FBXL20	17	37420506	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	10458131	37420506	43774704	182	40460											
HELZ	9931	genome.wustl.edu	37	chr17	65186379	65186379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttcaattttatcagccgtGaagcatatcttttctgccat	9	17	6	9	1	4	1	2	1	2	0	4	1	4	1	2	0	3	2	2	0	4	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr17:65186379G>A	ENST00000358691.5	-	10	816	c.650C>T	c.(649-651)tCa>tTa	p.S217L	HELZ_ENST00000580168.1_Missense_Mutation_p.S217L|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	217						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)					TATCAGCCGTGAAGCATATCT	0.398																																																	0													152	136	141					17																	65186379		1871	4107	5978	SO:0001583	missense	0			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.650C>T	17.37:g.65186379G>A	ENSP00000351524:p.Ser217Leu		I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH	p.S217L	ENST00000358691.5	37	c.650	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170775	0.38315	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.83419	-1.72;1.46	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.81527	0.4841	L	0.44542	1.39	0.80722	D	1	P;B	0.48998	0.918;0.447	P;B	0.46885	0.53;0.165	T	0.77242	-0.2660	10	0.14252	T	0.57	-12.1352	19.5907	0.95509	0.0:0.0:1.0:0.0	.	217;217	B7ZLW2;P42694	.;HELZ_HUMAN	L	217	ENSP00000351524:S217L;ENSP00000411144:S217L	ENSP00000351524:S217L	S	-	2	0	HELZ	62616841	1.000000	0.71417	0.700000	0.30305	0.529000	0.34654	7.608000	0.82898	2.640000	0.89533	0.655000	0.94253	TCA	HELZ	-	NULL	ENSG00000198265		0.398	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	-	0	80	0	G	NM_014877		65186379	-1	tier1	-	no_errors	ENST00000358691	ensembl	human	known	74_37	missense	11.76	75	10	SNP	1.000	A	A	65186379	G	A	65186379	3	1	159	1	0	0	0	0	1	0	0	0	7076	1294	45	3	5274	3	HELZ	17	65186379	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	27765873	65186379	16008831	183	40461											
KCNJ2	3759	genome.wustl.edu	37	chr17	68171795	68171795	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gccgtgattgccatgagagaCggcaagctgtgtttgatgtg	8	11	15	7	2	0	4	0	3	0	1	0	5	0	4	2	1	2	3	2	1	1	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr17:68171795C>T	ENST00000243457.3	+	2	998	c.615C>T	c.(613-615)gaC>gaT	p.D205D	KCNJ2_ENST00000535240.1_Silent_p.D205D	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	205					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|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 import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.D205E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CCATGAGAGACGGCAAGCTGT	0.488																																																	1	Substitution - Missense(1)	lung(1)											128	106	114					17																	68171795		2203	4300	6503	SO:0001819	synonymous_variant	0			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.615C>T	17.37:g.68171795C>T			O15110|P48049	Silent	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1	p.D205	ENST00000243457.3	37	c.615	CCDS11688.1	17																																																																																			KCNJ2	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000123700		0.488	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	-	0	26	0	C	NM_000891		68171795	1	tier1	-	no_errors	ENST00000243457	ensembl	human	known	74_37	silent	28.57	30	12	SNP	0.902	T	T	68171795	C	T	68171795	2	4	159	1	0	0	0	0	0	0	0	1	8078	535	19	1		1	KCNJ2	17	68171795	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	2985416	68171795	13023415	184	40462											
ADCYAP1	116	genome.wustl.edu	37	chr18	908309	908309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgaggcctaccgcaaagtgCtggaccagctgtccgccggg	8	5	14	14	4	0	0	0	0	0	0	1	2	1	1	5	3	3	3	5	3	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr18:908309C>T	ENST00000579794.1	+	3	564	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	ADCYAP1_ENST00000450565.3_Silent_p.L96L|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.2_ENST00000577358.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	96					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						CCGCAAAGTGCTGGACCAGCT	0.657																																																	0													28	29	29					18																	908309		2203	4299	6502	SO:0001819	synonymous_variant	0			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.286C>T	18.37:g.908309C>T			B2R7N4|Q52LQ0	Silent	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.L96	ENST00000579794.1	37	c.286	CCDS11825.1	18																																																																																			ADCYAP1	-	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	ENSG00000141433		0.657	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ADCYAP1	HGNC	protein_coding	OTTHUMT00000440765.3	-	0	129	0	C	NM_001117		908309	1	tier1	-	no_errors	ENST00000450565	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T	T	908309	C	T	908309	2	4	159	1	0	0	0	0	0	0	0	1	302	796	28	3		3	ADCYAP1	18	908309	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		908309	77168939	185	40463											
SLC14A1	6563	genome.wustl.edu	37	chr18	43314239	43314239	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtctcttgccccacagGtcattaatagcatctgggct	7	13	9	12	0	3	0	1	0	2	0	4	0	3	0	2	2	2	2	2	2	2	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr18:43314239G>T	ENST00000321925.4	+	5	574	c.342G>T	c.(340-342)agG>agT	p.R114S	SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000436407.3_Splice_Site_p.R170S|SLC14A1_ENST00000502059.2_Splice_Site_p.R6S|SLC14A1_ENST00000535474.1_5'UTR|SLC14A1_ENST00000589700.1_Splice_Site_p.R114S|SLC14A1_ENST00000402943.2_Splice_Site_p.R9S|RP11-116O18.3_ENST00000586213.1_RNA|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000415427.3_Splice_Site_p.R170S|SLC14A1_ENST00000586142.1_Splice_Site_p.R114S	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)	114					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						TGCCCCACAGGTCATTAATAG	0.458																																																	0													177	158	165					18																	43314239		2203	4300	6503	SO:0001630	splice_region_variant	0			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.342-1G>T	18.37:g.43314239G>T			A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	pfam_Urea_transporter	p.R170S	ENST00000321925.4	37	c.510	CCDS11925.1	18	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337699	0.41398	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000436407	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.46	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	M	0.76328	2.33	0.80722	D	1	D;P;D	0.89917	1.0;0.863;0.996	D;P;D	0.85130	0.997;0.644;0.938	T	0.65166	-0.6234	9	.	.	.	.	8.0794	0.30735	0.2614:0.0:0.7386:0.0	.	170;6;114	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	S	114;170;6;9;170	ENSP00000318546:R114S;ENSP00000412309:R170S;ENSP00000442180:R6S;ENSP00000385320:R9S;ENSP00000390637:R170S	.	R	+	3	2	SLC14A1	41568237	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	2.988000	0.49386	1.283000	0.44513	0.591000	0.81541	AGG	SLC14A1	-	pfam_Urea_transporter	ENSG00000141469		0.458	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC14A1	HGNC	protein_coding	OTTHUMT00000255860.2	-	0	78	0	G	NM_015865	Missense_Mutation	43314239	1	tier1	-	no_errors	ENST00000415427	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	43314239	G	T	43314239	5	4	159	1	0	0	0	0	0	0	1	0	14441	1275	44	3	524	3	SLC14A1	18	43314239	Splice_Site	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	42405930	43314239	34763009	186	40464											
UPF1	5976	genome.wustl.edu	37	chr19	18971220	18971220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagggccaagaggagattgCcagctcgggcacctcctacc	9	5	12	15	1	0	2	0	0	0	2	2	3	1	2	6	3	3	2	6	3	2	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:18971220C>T	ENST00000599848.1	+	16	2515	c.2306C>T	c.(2305-2307)gCc>gTc	p.A769V	UPF1_ENST00000262803.5_Missense_Mutation_p.A758V			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	769					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						GAGGAGATTGCCAGCTCGGGC	0.577																																																	0													128	120	123					19																	18971220		2203	4300	6503	SO:0001583	missense	0			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.2306C>T	19.37:g.18971220C>T	ENSP00000470142:p.Ala769Val		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase	p.A769V	ENST00000599848.1	37	c.2306		19	.	.	.	.	.	.	.	.	.	.	C	32	5.133190	0.94517	.	.	ENSG00000005007	ENST00000262803	D	0.92595	-3.07	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	N	0.11870	0.19	0.80722	D	1	P;P	0.49961	0.93;0.915	P;B	0.45428	0.48;0.248	D	0.89944	0.4075	10	0.87932	D	0	-35.4882	16.4462	0.83935	0.0:1.0:0.0:0.0	.	769;758	Q92900;Q92900-2	RENT1_HUMAN;.	V	758	ENSP00000262803:A758V	ENSP00000262803:A758V	A	+	2	0	UPF1	18832220	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	7.430000	0.80321	2.108000	0.64289	0.478000	0.44815	GCC	UPF1	-	superfamily_P-loop_NTPase	ENSG00000005007		0.577	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	-	0	35	0	C	NM_002911		18971220	1	tier1	-	no_errors	ENST00000599848	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	18971220	C	T	18971220	3	4	159	1	0	0	0	0	1	0	0	0	17052	739	26	3	2335	3	UPF1	19	18971220	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		18971220	40157763	187	40465											
ZNF492	57615	genome.wustl.edu	37	chr19	22848051	22848051	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	ttccaaatataaaagaaattGtgctggtgagaaataataga	19	11	8	3	0	0	3	0	1	0	3	1	4	1	3	1	1	1	1	1	1	8	6			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:22848051G>C	ENST00000456783.2	+	4	1824	c.1580G>C	c.(1579-1581)tGt>tCt	p.C527S	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	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)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AAAAGAAATTGTGCTGGTGAG	0.328																																																	0													23	21	22					19																	22848051		1781	4012	5793	SO:0001583	missense	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1580G>C	19.37:g.22848051G>C	ENSP00000413660:p.Cys527Ser		Q08EI7|Q08EI8	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C527S	ENST00000456783.2	37	c.1580	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	4.043	0.005664	0.07866	.	.	ENSG00000229676	ENST00000456783	T	0.06371	3.31	1.03	-0.311	0.12761	.	.	.	.	.	T	0.04137	0.0115	N	0.20986	0.625	0.20196	N	0.99993	B	0.16166	0.016	B	0.13407	0.009	T	0.41305	-0.9516	9	0.87932	D	0	.	3.4142	0.07369	0.5593:0.0:0.4407:0.0	.	527	Q9P255	ZN492_HUMAN	S	527	ENSP00000413660:C527S	ENSP00000413660:C527S	C	+	2	0	ZNF492	22639891	0.030000	0.19436	0.009000	0.14445	0.051000	0.14879	1.672000	0.37523	0.516000	0.28340	0.152000	0.16155	TGT	ZNF492	-	NULL	ENSG00000229676		0.328	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	-	0	69	0	G	NM_020855		22848051	1	tier1	-	no_errors	ENST00000456783	ensembl	human	known	74_37	missense	65.96	16	31	SNP	0.428	C	C	22848051	G	C	22848051	3	2	159	1	0	0	0	0	1	0	0	0	17991	1377	48	5	1590	5	ZNF492	19	22848051	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	3876831	22848051	36280932	188	40466											
KIRREL2	84063	genome.wustl.edu	37	chr19	36351921	36351921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacgggtaacctggaccCgccgcggtggcgcgcaggta	6	6	15	14	6	0	0	0	0	0	0	1	1	1	1	4	5	1	3	4	5	2	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:36351921C>T	ENST00000360202.5	+	8	1237	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R347C|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R297C|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R347C	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	347	Ig-like C2-type 4.				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)			AACCTGGACCCGCCGCGGTGG	0.672																																																	0													11	13	12					19																	36351921		2182	4250	6432	SO:0001583	missense	0			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.1039C>T	19.37:g.36351921C>T	ENSP00000353331:p.Arg347Cys		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R347C	ENST00000360202.5	37	c.1039	CCDS12481.1	19	.	.	.	.	.	.	.	.	.	.	c	21.1	4.093931	0.76870	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.13778	2.56;2.56;2.56	4.5	3.41	0.39046	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000445	T	0.33933	0.0880	M	0.84948	2.725	0.48135	D	0.99959	D;D;D;D;D	0.76494	0.998;0.998;0.998;0.999;0.999	P;P;P;P;P	0.60886	0.828;0.736;0.88;0.809;0.809	T	0.18147	-1.0346	10	0.87932	D	0	-13.5841	9.8689	0.41162	0.2027:0.7973:0.0:0.0	.	347;327;347;297;347	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	C	347;297;347;327	ENSP00000262625:R347C;ENSP00000345067:R297C;ENSP00000353331:R347C	ENSP00000262625:R347C	R	+	1	0	KIRREL2	41043761	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.936000	0.40183	2.362000	0.80069	0.494000	0.49563	CGC	KIRREL2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000126259		0.672	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL2	HGNC	protein_coding	OTTHUMT00000452561.1	-	0	76	0	C	NM_032123		36351921	1	tier1	-	no_errors	ENST00000360202	ensembl	human	known	74_37	missense	8.05	80	7	SNP	1.000	T	T	36351921	C	T	36351921	3	4	159	1	0	0	0	0	1	0	0	0	8352	652	23	1	1069	1	KIRREL2	19	36351921	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	13503870	36351921	22777062	189	40467											
CATSPERG	57828	genome.wustl.edu	37	chr19	38861354	38861354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctgagacattccaggatGggctccatgttcagctccag	8	11	10	12	0	2	1	1	1	1	1	6	3	5	2	3	2	1	3	3	2	0	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:38861354G>A	ENST00000409235.3	+	29	3517	c.3402G>A	c.(3400-3402)atG>atA	p.M1134I	CATSPERG_ENST00000410018.1_Missense_Mutation_p.M1094I|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1134					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ATTCCAGGATGGGCTCCATGT	0.557																																																	0													129	120	123					19																	38861354		2203	4300	6503	SO:0001583	missense	0			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3402G>A	19.37:g.38861354G>A	ENSP00000386962:p.Met1134Ile		A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.M1134I	ENST00000409235.3	37	c.3402	CCDS12514.2	19	.	.	.	.	.	.	.	.	.	.	G	5.358	0.251383	0.10130	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.20332	2.08;2.08	3.62	-7.25	0.01470	.	4.390070	0.00531	N	0.000204	T	0.08179	0.0204	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16571	-1.0398	10	0.31617	T	0.26	5.303	0.7019	0.00909	0.2443:0.1287:0.3291:0.2978	.	1134;1094	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	I	1094;1134;1134	ENSP00000387057:M1094I;ENSP00000386962:M1134I	ENSP00000386962:M1134I	M	+	3	0	CATSPERG	43553194	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.728000	0.00382	-2.013000	0.00949	-0.680000	0.03767	ATG	CATSPERG	-	NULL	ENSG00000099338		0.557	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	-	0	29	0	G	NM_021185		38861354	1	tier1	-	no_errors	ENST00000409235	ensembl	human	known	74_37	missense	57.14	9	12	SNP	0.000	A	A	38861354	G	A	38861354	3	1	159	1	0	0	0	0	1	0	0	0	2699	1348	47	3	3512	3	CATSPERG	19	38861354	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	2509433	38861354	20267629	190	40468											
RASGRP4	115727	genome.wustl.edu	37	chr19	38909030	38909030	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccaaggggcgggcctcaCctgtgccacgtgaatgaact	8	6	13	14	2	1	2	1	2	0	0	1	2	1	2	5	3	2	0	5	3	3	0			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:38909030C>T	ENST00000587738.1	-	7	908		c.e7+1		RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000293062.9_Intron|RASGRP4_ENST00000433821.2_Splice_Site|RASGRP4_ENST00000586305.1_Splice_Site|RASGRP4_ENST00000587753.1_Splice_Site|RASGRP4_ENST00000454404.2_Splice_Site			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4						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)			GCGGGCCTCACCTGTGCCACG	0.667																																																	0													23	29	27					19																	38909030		2089	4206	6295	SO:0001630	splice_region_variant	0			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.837+1G>A	19.37:g.38909030C>T			A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Splice_Site	SNP	-	e7+1	ENST00000587738.1	37	c.837+1	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298370	0.40694	.	.	ENSG00000171777	ENST00000433821;ENST00000405332;ENST00000454404	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2156	0.73264	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASGRP4	43600870	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	7.268000	0.78473	2.429000	0.82318	0.561000	0.74099	.	RASGRP4	-	-	ENSG00000171777		0.667	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	-	0	37	0	C	NM_170604	Intron	38909030	-1	tier1	-	no_errors	ENST00000587738	ensembl	human	known	74_37	splice_site	15.79	32	6	SNP	1.000	T	T	38909030	C	T	38909030	5	4	159	1	0	0	0	0	0	0	1	0	13122	521	18	3	1227	3	RASGRP4	19	38909030	Splice_Site	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	47676	38909030	20219953	191	40469											
ZNF576	79177	genome.wustl.edu	37	chr19	44103247	44103247	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	caccttcccttgtcctgactGtggcaagacctttgggcagg	6	11	11	13	0	0	2	0	1	0	1	2	2	2	2	4	3	0	2	4	3	1	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:44103247G>T	ENST00000336564.4	+	3	504	c.350G>T	c.(349-351)tGt>tTt	p.C117F	ZNF576_ENST00000525771.1_Missense_Mutation_p.C117F|ZNF576_ENST00000529930.1_Missense_Mutation_p.C117F|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000391965.2_Missense_Mutation_p.C117F|ZNF576_ENST00000528387.1_Missense_Mutation_p.C117F|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000533118.1_Missense_Mutation_p.C117F|SRRM5_ENST00000526798.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	117					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				TGTCCTGACTGTGGCAAGACC	0.642																																																	0													109	86	94					19																	44103247		2203	4300	6503	SO:0001583	missense	0			AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"Zinc fingers, C2H2-type"	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.350G>T	19.37:g.44103247G>T	ENSP00000337852:p.Cys117Phe		Q9BU03	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C117F	ENST00000336564.4	37	c.350	CCDS12625.1	19	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694660	0.68386	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	D;D;D;D;D;D	0.99974	-10.2;-10.2;-10.2;-10.2;-10.2;-10.2	3.49	3.49	0.39957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.067365	0.64402	D	0.000018	D	0.99981	0.9994	H	0.99800	4.79	0.80722	D	1	D	0.59767	0.986	P	0.61477	0.889	D	0.97554	1.0094	10	0.87932	D	0	-6.4267	10.7988	0.46476	0.0:0.0:1.0:0.0	.	117	Q9H609	ZN576_HUMAN	F	117	ENSP00000375827:C117F;ENSP00000436182:C117F;ENSP00000435899:C117F;ENSP00000435934:C117F;ENSP00000435463:C117F;ENSP00000337852:C117F	ENSP00000337852:C117F	C	+	2	0	ZNF576	48795087	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.142000	0.64820	2.271000	0.75665	0.655000	0.94253	TGT	ZNF576	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124444		0.642	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF576	HGNC	protein_coding	OTTHUMT00000384397.1	-	0	36	0	G	NM_024327		44103247	1	tier1	-	no_errors	ENST00000336564	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	44103247	G	T	44103247	3	4	159	1	0	0	0	0	1	0	0	0	18056	1377	48	3	356	3	ZNF576	19	44103247	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	5194217	44103247	15025736	192	40470											
ZNF285	26974	genome.wustl.edu	37	chr19	44892206	44892206	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcaatgaagcacttcttgCgaaaggtaacttaacccctt	13	10	7	11	1	1	1	0	1	1	0	1	2	1	1	2	1	5	3	2	1	5	5	rs73557001		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:44892206C>A	ENST00000330997.4	-	4	265	c.201G>T	c.(199-201)tcG>tcT	p.S67S	ZNF285_ENST00000591679.1_Silent_p.S74S|ZNF285_ENST00000544719.2_Silent_p.S67S|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						GCACTTCTTGCGAAAGGTAAC	0.413																																																	0													87	91	89					19																	44892206		2203	4300	6503	SO:0001819	synonymous_variant	0			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.201G>T	19.37:g.44892206C>A			Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S67	ENST00000330997.4	37	c.201	CCDS12638.1	19																																																																																			ZNF285	-	pfscan_Krueppel-associated_box	ENSG00000267508		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	-	0	32	0	C	NM_152354		44892206	-1	tier1	rs73557001	no_errors	ENST00000330997	ensembl	human	known	74_37	silent	18.18	45	10	SNP	0.000	A	A	44892206	C	A	44892206	2	1	159	1	0	0	0	0	0	0	0	1	17870	755	27	2		2	ZNF285	19	44892206	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	788959	44892206	14236777	193	40471			2	47		4	3	61	N	T_G_C	8.456163e-08
ZNF285	26974	genome.wustl.edu	37	chr19	44892225	44892225	+	Missense_Mutation	SNP	T	T	G																															gcgaaaggtaacttaaccccTttgcctgaagattcaaaatg																								rs114985922	byFrequency	TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:44892225T>G	ENST00000330997.4	-	4	246	c.182A>C	c.(181-183)aAg>aCg	p.K61T	ZNF285_ENST00000591679.1_Missense_Mutation_p.K68T|ZNF285_ENST00000544719.2_Missense_Mutation_p.K61T|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	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)	p.K61T(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						ACTTAACCCCTTTGCCTGAAG	0.403																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											82	86	84					19																	44892225		2202	4299	6501	SO:0001583	missense	0			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.182A>C	19.37:g.44892225T>G	ENSP00000333595:p.Lys61Thr		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K61T	ENST00000330997.4	37	c.182	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	T	6.972	0.549372	0.13374	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06449	3.3	3.86	-2.02	0.07388	Krueppel-associated box (2);	.	.	.	.	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	B;B	0.26363	0.147;0.147	B;B	0.17433	0.018;0.018	T	0.47262	-0.9131	9	0.17832	T	0.49	.	6.3993	0.21630	0.0:0.1093:0.5041:0.3865	.	85;61	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	T	84;61	ENSP00000333595:K61T	ENSP00000333595:K61T	K	-	2	0	ZNF285	49584065	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-2.025000	0.01435	-0.256000	0.09473	0.373000	0.22412	AAG	ZNF285	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000267508		0.403	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	-	0	32	0	T	NM_152354		44892225	-1	tier1	rs114985922	no_errors	ENST00000330997	ensembl	human	known	74_37	missense	20.83	38	10	SNP	0.000	G	G	44892225	T	G	44892225	3	3	159	1	0	0	0	0	1	0	0	0	17870	1609	56	4	1594	4	ZNF285	19	44892225	Missense_Mutation	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	19	44892225	14236758	194	40472	146	2	2	47		4	3	61	N	T_G_C	8.456163e-08
ZNF285	26974	genome.wustl.edu	37	chr19	44892228	44892228	+	Missense_Mutation	SNP	G	G	C																															aaaggtaacttaacccctttGcctgaagattcaaaatgttg																								rs117953191	byFrequency	TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:44892228G>C	ENST00000330997.4	-	4	243	c.179C>G	c.(178-180)gCa>gGa	p.A60G	ZNF285_ENST00000591679.1_Missense_Mutation_p.A67G|ZNF285_ENST00000544719.2_Missense_Mutation_p.A60G|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(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						TAACCCCTTTGCCTGAAGATT	0.403																																																	0													79	83	82					19																	44892228		2201	4299	6500	SO:0001583	missense	0			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.179C>G	19.37:g.44892228G>C	ENSP00000333595:p.Ala60Gly		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A60G	ENST00000330997.4	37	c.179	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	G	6.897	0.535060	0.13188	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06294	3.32	1.78	-2.09	0.07232	Krueppel-associated box (2);	.	.	.	.	T	0.02455	0.0075	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	0.42582	-0.9443	9	0.45353	T	0.12	.	3.686	0.08328	0.0:0.1882:0.4872:0.3246	.	84;60	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	83;60	ENSP00000333595:A60G	ENSP00000333595:A60G	A	-	2	0	ZNF285	49584068	0.000000	0.05858	0.010000	0.14722	0.284000	0.27059	0.028000	0.13644	-0.674000	0.05253	-0.563000	0.04171	GCA	ZNF285	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000267508		0.403	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	-	0	31	0	G	NM_152354		44892228	-1	tier1	rs117953191	no_errors	ENST00000330997	ensembl	human	known	74_37	missense	22.22	35	10	SNP	0.010	C	C	44892228	G	C	44892228	3	2	159	1	0	0	0	0	1	0	0	0	17870	1319	46	5	1597	5	ZNF285	19	44892228	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	3	44892228	14236755	195	40473	146	2	2	47		4	3	61	N	T_G_C	8.456163e-08
ZNF285	26974	genome.wustl.edu	37	chr19	44892266	44892266	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtttttaatcccgtctccTaggagaagaaagagaatttg	12	14	9	6	1	1	3	0	0	1	3	3	5	2	3	2	1	0	1	2	1	5	6	rs200167944		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:44892266T>C	ENST00000330997.4	-	4	207		c.e4-2		ZNF285_ENST00000591679.1_Splice_Site|ZNF285_ENST00000544719.2_Splice_Site|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285						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						TCCCGTCTCCTAGGAGAAGAA	0.413																																																	0													50	54	53					19																	44892266		2173	4283	6456	SO:0001630	splice_region_variant	0			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.143-2A>G	19.37:g.44892266T>C			Q17RJ3|Q6B0A8|Q6ISR5	Splice_Site	SNP	-	e3-2	ENST00000330997.4	37	c.143-2	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	T	9.943	1.218077	0.22373	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3975	0.38412	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF285	49584106	0.507000	0.26146	0.215000	0.23724	0.122000	0.20287	3.134000	0.50538	1.528000	0.49103	0.373000	0.22412	.	ZNF285	-	-	ENSG00000267508		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1		0	22	0	T	NM_152354	Intron	44892266	-1			no_errors	ENST00000330997	ensembl	human	known	74_37	splice_site	14.29	18	3	SNP	0.017	C	C	44892266	T	C	44892266	5	2	159	1	0	0	0	0	0	0	1	0	17870	1536	53	4	1635	4	ZNF285	19	44892266	Splice_Site	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	38	44892266	14236717	196	40474			2	47		4	3	61	N	T_G_C	8.456163e-08
CCDC155	147872	genome.wustl.edu	37	chr19	49900949	49900949	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccaacctggagagcttcGgaggcgaagaccccagaccc	11	3	12	15	2	0	3	0	0	0	3	1	6	0	4	5	3	3	1	5	3	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:49900949G>T	ENST00000447857.3	+	6	647	c.442G>T	c.(442-444)Gga>Tga	p.G148*		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	148						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G148R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGAGAGCTTCGGAGGCGAAGA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											98	114	109					19																	49900949		1994	4155	6149	SO:0001587	stop_gained	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.442G>T	19.37:g.49900949G>T	ENSP00000404220:p.Gly148*		Q96MC3	Nonsense_Mutation	SNP	NULL	p.G148*	ENST00000447857.3	37	c.442	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960670	0.92791	.	.	ENSG00000161609	ENST00000447857	.	.	.	4.76	3.72	0.42706	.	0.325996	0.24539	N	0.037649	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-17.1026	9.3277	0.38003	0.0986:0.0:0.9014:0.0	.	.	.	.	X	148	.	ENSP00000404220:G148X	G	+	1	0	CCDC155	54592761	0.997000	0.39634	1.000000	0.80357	0.384000	0.30261	2.981000	0.49329	1.377000	0.46286	-0.219000	0.12488	GGA	CCDC155	-	NULL	ENSG00000161609		0.627	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2		0	30	0	G	NM_144688		49900949	1			no_errors	ENST00000447857	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	1.000	T	T	49900949	G	T	49900949	4	4	159	1	0	0	0	0	0	1	0	0	2795	1117	39	2	460	2	CCDC155	19	49900949	Nonsense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	5008683	49900949	9228034	197	40475											
SIGLEC11	114132	genome.wustl.edu	37	chr19	50455220	50455220	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcgagcttccttcctgcaGatcttcaccctgagggagga	7	11	11	12	1	2	2	1	1	1	1	4	5	4	4	3	2	3	2	3	2	0	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:50455220G>C	ENST00000447370.2	-	10	1848	c.1758C>G	c.(1756-1758)atC>atG	p.I586M	CTC-326K19.6_ENST00000451973.1_3'UTR|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.I490M|U3_ENST00000408198.1_RNA	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	586					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)		CCTTCCTGCAGATCTTCACCC	0.637																																																	0													52	38	43					19																	50455220		2203	4300	6503	SO:0001583	missense	0			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.1758C>G	19.37:g.50455220G>C	ENSP00000412361:p.Ile586Met			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I586M	ENST00000447370.2	37	c.1758	CCDS12790.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.28|12.28	1.892081|1.892081	0.33442|0.33442	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000447370;ENST00000458019|ENST00000426971	T|.	0.53423|.	0.62|.	2.86|2.86	-2.29|-2.29	0.06805|0.06805	.|.	2.353440|.	0.01541|.	N|.	0.019228|.	T|T	0.17109|0.17109	0.0411|0.0411	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;P|.	0.34997|.	0.001;0.479|.	B;B|.	0.29353|.	0.001;0.101|.	T|T	0.25502|0.25502	-1.0130|-1.0130	10|5	0.40728|.	T|.	0.16|.	.|.	2.4794|2.4794	0.04583|0.04583	0.2616:0.0:0.3322:0.4062|0.2616:0.0:0.3322:0.4062	.|.	490;586|.	Q96RL6-2;Q96RL6|.	.;SIG11_HUMAN|.	M|C	586;490|480	ENSP00000412361:I586M|.	ENSP00000412361:I586M|.	I|S	-|-	3|2	3|0	SIGLEC11|SIGLEC11	55147032|55147032	0.001000|0.001000	0.12720|0.12720	0.202000|0.202000	0.23494|0.23494	0.903000|0.903000	0.53119|0.53119	-0.149000|-0.149000	0.10204|0.10204	-0.368000|-0.368000	0.08040|0.08040	0.561000|0.561000	0.74099|0.74099	ATC|TCT	SIGLEC11	-	NULL	ENSG00000161640		0.637	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC11	HGNC	protein_coding	OTTHUMT00000347382.1	-	0	30	0	G	NM_052884		50455220	-1	tier1	-	no_errors	ENST00000447370	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.292	C	C	50455220	G	C	50455220	3	2	159	1	0	0	0	0	1	0	0	0	14352	932	33	5	346	5	SIGLEC11	19	50455220	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	554271	50455220	8673763	198	40476											
KIR2DL3	3804	genome.wustl.edu	37	chr19	55258837	55258837	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccaagctccgaaaccGgtgagtacagaaccctctta	13	7	8	13	2	1	3	0	2	1	1	2	4	2	3	4	1	5	2	4	1	6	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:55258837G>A	ENST00000342376.3	+	5	746	c.715G>A	c.(715-717)Ggt>Agt	p.G239S	KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	239					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTCCGAAACCGGTGAGTACAG	0.502																																																	0													96	91	93					19																	55258837		1416	2531	3947	SO:0001630	splice_region_variant	0			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.715+1G>A	19.37:g.55258837G>A			O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.G239S	ENST00000342376.3	37	c.715	CCDS33107.1	19	.	.	.	.	.	.	.	.	.	.	G	4.543	0.100735	0.08731	.	.	ENSG00000243772	ENST00000342376	T	0.00497	6.98	0.736	-0.442	0.12253	.	.	.	.	.	T	0.00412	0.0013	M	0.61703	1.905	0.09310	N	1	B;P;D;B;B	0.53745	0.03;0.66;0.962;0.425;0.425	B;B;B;B;B	0.37550	0.013;0.124;0.253;0.078;0.078	T	0.47289	-0.9129	9	0.27785	T	0.31	.	3.2705	0.06880	0.3227:0.0:0.6773:0.0	.	239;239;141;239;239	E3NZD7;P43627;P43628-2;P43628;E3NZD8	.;KI2L2_HUMAN;.;KI2L3_HUMAN;.	S	239	ENSP00000342215:G239S	ENSP00000342215:G239S	G	+	1	0	KIR2DL3	59950649	0.001000	0.12720	0.008000	0.14137	0.002000	0.02628	-0.523000	0.06230	-0.114000	0.11936	-1.207000	0.01640	GGT	KIR2DL3	-	NULL	ENSG00000243772		0.502	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1	-	0	86	0	G		Missense_Mutation	55258837	1	tier1	-	no_errors	ENST00000342376	ensembl	human	known	74_37	missense	5.56	136	8	SNP	0.011	A	A	55258837	G	A	55258837	5	1	159	1	0	0	0	0	0	0	1	0	8344	1130	39	1	733	1	KIR2DL3	19	55258837	Splice_Site	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	4803617	55258837	3870146	199	40477											
EPS8L1	54869	genome.wustl.edu	37	chr19	55592816	55592816	+	Frame_Shift_Del	DEL	C	C	-																															cggcctccccggacctgggtCcccggggtcctgacctggcg																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr19:55592816delC	ENST00000201647.6	+	8	786	c.730delC	c.(730-732)cccfs	p.P244fs	EPS8L1_ENST00000540810.1_Frame_Shift_Del_p.P180fs|EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Frame_Shift_Del_p.P226fs|EPS8L1_ENST00000245618.5_Frame_Shift_Del_p.P117fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	244					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)		GGACCTGGGTCCCCGGGGTCC	0.716																																					Ovarian(149;255 1863 3636 27051 29647)												0													11	12	11					19																	55592816		2193	4285	6478	SO:0001589	frameshift_variant	0			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.730delC	19.37:g.55592816delC	ENSP00000201647:p.Pro244fs		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Frame_Shift_Del	DEL	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain	p.R245fs	ENST00000201647.6	37	c.730	CCDS12914.1	19																																																																																			EPS8L1	-	NULL	ENSG00000131037		0.716	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1		0	21	0	C	NM_017729		55592816	1	tier1		no_errors	ENST00000201647	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	0.910	-	-	55592816	C	-	55592816	7	5	159	1	0	1	0	1	0	0	0	0	5211	855	30	0	808	0	EPS8L1	19	55592816	Frame_Shift_Del	DEL	C	TCGA-V5-AASW-01A-11D-A403-09	333979	55592816	3536167	200	40478											
SIGLEC1	6614	genome.wustl.edu	37	chr20	3678715	3678715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaaaggaggcctcgccGtccagccccggccccagcgg	8	2	13	18	4	0	0	0	0	0	0	2	1	1	1	7	4	2	1	7	4	2	0	rs558364870		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr20:3678715G>A	ENST00000344754.4	-	8	1851	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R618W	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	618	Ig-like C2-type 6.				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						AGGCCTCGCCGTCCAGCCCCG	0.662													G|||	1	0.000199681	0	0	5008	,	,		17787	0.001		0	False		,,,				2504	0																0													12	13	13					20																	3678715		2190	4282	6472	SO:0001583	missense	0			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.1852C>T	20.37:g.3678715G>A	ENSP00000341141:p.Arg618Trp		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R618W	ENST00000344754.4	37	c.1852	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404835	0.83230	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.23950	1.91;1.88	5.19	3.17	0.36434	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.721938	0.11432	N	0.564665	T	0.46600	0.1401	M	0.77103	2.36	0.09310	N	1	D;D	0.89917	1.0;1.0	D;P	0.65987	0.94;0.899	T	0.23048	-1.0199	10	0.66056	D	0.02	.	7.5572	0.27831	0.0:0.1544:0.5526:0.2931	.	618;618	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	W	618	ENSP00000341141:R618W;ENSP00000202578:R618W	ENSP00000202578:R618W	R	-	1	2	SIGLEC1	3626715	0.000000	0.05858	0.008000	0.14137	0.692000	0.40212	0.669000	0.25142	2.710000	0.92621	0.655000	0.94253	CGG	SIGLEC1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000088827		0.662	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	-	0	63	0	G	NM_023068		3678715	-1	tier1	-	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	38.37	53	33	SNP	0.001	A	A	3678715	G	A	3678715	3	1	159	1	0	0	0	0	1	0	0	0	14350	1144	40	1	3333	1	SIGLEC1	20	3678715	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09		3678715	59346805	201	40479											
CDK5RAP1	51654	genome.wustl.edu	37	chr20	31984822	31984822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacacagaggccaatggtcCccaccccagagacctctgca	12	4	9	16	0	1	3	0	0	1	3	2	4	2	3	6	2	1	1	6	2	1	0			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr20:31984822C>T	ENST00000357886.4	-	2	202	c.49G>A	c.(49-51)Gga>Aga	p.G17R	CDK5RAP1_ENST00000477105.1_Intron|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.G17R|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.G17R|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.G17R|CDK5RAP1_ENST00000473997.1_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	17					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GCCAATGGTCCCCACCCCAGA	0.547																																																	0													90	82	84					20																	31984822		2203	4300	6503	SO:0001583	missense	0			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.49G>A	20.37:g.31984822C>T	ENSP00000350558:p.Gly17Arg		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase	p.G17R	ENST00000357886.4	37	c.49		20	.	.	.	.	.	.	.	.	.	.	C	5.099	0.203835	0.09704	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000544843	.	.	.	5.05	0.537	0.17144	.	1.004790	0.08004	N	0.989205	T	0.20536	0.0494	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.08055	0.001;0.002;0.001;0.001;0.001;0.003	T	0.28004	-1.0057	9	0.42905	T	0.14	-0.8964	1.0968	0.01675	0.1844:0.4311:0.1792:0.2052	.	17;17;17;17;17;17	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3	.;.;CK5P1_HUMAN;.;.;.	R	17	.	ENSP00000341840:G17R	G	-	1	0	CDK5RAP1	31448483	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.211000	0.09332	0.277000	0.22141	0.491000	0.48974	GGA	CDK5RAP1	-	NULL	ENSG00000101391		0.547	CDK5RAP1-011	KNOWN	basic	protein_coding	CDK5RAP1	HGNC	protein_coding	OTTHUMT00000078697.1	-	0	33	0	C	NM_016408		31984822	-1	tier1	-	no_errors	ENST00000357886	ensembl	human	known	74_37	missense	48.89	23	22	SNP	0.000	T	T	31984822	C	T	31984822	3	4	159	1	0	0	0	0	1	0	0	0	3152	632	22	3	1766	3	CDK5RAP1	20	31984822	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	28306107	31984822	31040698	202	40480											
CBFA2T2	9139	genome.wustl.edu	37	chr20	32194777	32194777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttggtcctgagaaaaGggtgccagcgatgcctggat	9	9	15	8	1	0	1	0	1	0	1	1	4	1	2	3	3	4	2	3	3	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr20:32194777G>T	ENST00000346541.3	+	3	614	c.77G>T	c.(76-78)aGg>aTg	p.R26M	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R26M|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.R17M|CBFA2T2_ENST00000344201.3_5'UTR|CBFA2T2_ENST00000397798.2_5'UTR|CBFA2T2_ENST00000397800.1_5'UTR|CBFA2T2_ENST00000492345.1_5'UTR|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R36M	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	26					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						CCTGAGAAAAGGGTGCCAGCG	0.483																																					Esophageal Squamous(174;142 1955 14837 21276 28041)												0													111	108	109					20																	32194777		2203	4300	6503	SO:0001583	missense	0			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.77G>T	20.37:g.32194777G>T	ENSP00000262653:p.Arg26Met		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1	p.R26M	ENST00000346541.3	37	c.77	CCDS13221.1	20	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207300	0.79240	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000346541;ENST00000454955;ENST00000359606	T;T;T;T	0.48522	0.87;0.81;0.87;1.45	5.85	4.91	0.64330	.	0.040065	0.85682	D	0.000000	T	0.45155	0.1328	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.997;0.986	P;P	0.59288	0.781;0.855	T	0.57027	-0.7881	10	0.87932	D	0	0.2714	14.8269	0.70120	0.0689:0.0:0.931:0.0	.	26;17	O43439;F8W6D7	MTG8R_HUMAN;.	M	26;17;17;26;26;36	ENSP00000364428:R26M;ENSP00000345810:R17M;ENSP00000262653:R26M;ENSP00000352622:R36M	ENSP00000345810:R17M	R	+	2	0	CBFA2T2	31658438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.231000	0.78106	1.483000	0.48342	0.557000	0.71058	AGG	CBFA2T2	-	NULL	ENSG00000078699		0.483	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	CBFA2T2	HGNC	protein_coding	OTTHUMT00000078708.2	-	0	56	0	G	NM_001032999		32194777	1	tier1	-	no_errors	ENST00000346541	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	32194777	G	T	32194777	3	4	159	1	0	0	0	0	1	0	0	0	2704	1000	35	3	121	3	CBFA2T2	20	32194777	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	209955	32194777	30830743	203	40481											
PXMP4	11264	genome.wustl.edu	37	chr20	32295572	32295572	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatgtcgtgccatacattGctgtcctcatagaggtaggt	9	12	12	8	1	1	2	1	0	0	2	3	3	2	2	2	2	3	2	2	2	3	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr20:32295572G>A	ENST00000409299.3	-	4	671	c.579C>T	c.(577-579)agC>agT	p.S193S	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	193						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GCCATACATTGCTGTCCTCAT	0.562																																																	0													157	141	146					20																	32295572		2203	4300	6503	SO:0001819	synonymous_variant	0			AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"24 kDa peroxisomal intrinsic membrane protein"		"peroxisomal membrane protein 4 (24kD)"			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.579C>T	20.37:g.32295572G>A			A2A2I7|Q9H0T4	Silent	SNP	pirsf_Pmp4	p.S193	ENST00000409299.3	37	c.579	CCDS13225.1	20																																																																																			PXMP4	-	pirsf_Pmp4	ENSG00000101417		0.562	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXMP4	HGNC	protein_coding	OTTHUMT00000078739.2	-	0	32	0	G	NM_007238		32295572	-1	tier1	-	no_errors	ENST00000409299	ensembl	human	known	74_37	silent	33.33	21	11	SNP	1.000	A	A	32295572	G	A	32295572	2	1	159	1	0	0	0	0	0	0	0	1	12896	1310	46	3		3	PXMP4	20	32295572	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	100795	32295572	30729948	204	40482											
FAM83C	128876	genome.wustl.edu	37	chr20	33875493	33875493	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccacctcctggtagagcGaggtaggaggagcgacccat	10	6	13	12	2	1	1	1	0	0	1	2	5	2	3	4	4	2	2	4	4	2	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr20:33875493G>A	ENST00000374408.3	-	4	1185	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	363										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)			CTGGTAGAGCGAGGTAGGAGG	0.647																																																	0													139	110	120					20																	33875493		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1089C>T	20.37:g.33875493G>A			Q14D67|Q5JWN6|Q8N276	Silent	SNP	pfam_DUF1669	p.L363	ENST00000374408.3	37	c.1089	CCDS13251.1	20																																																																																			FAM83C	-	NULL	ENSG00000125998		0.647	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	-	0	23	0	G			33875493	-1	tier1	-	no_errors	ENST00000374408	ensembl	human	known	74_37	silent	16.22	31	6	SNP	0.000	A	A	33875493	G	A	33875493	2	1	159	1	0	0	0	0	0	0	0	1	5657	1045	37	1		1	FAM83C	20	33875493	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	1579921	33875493	29150027	205	40483											
RBM12	10137	genome.wustl.edu	37	chr20	34242782	34242782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttggaggagctgttcctaCgctggctgtggaaaatgtct	8	13	13	7	1	1	0	0	0	1	0	2	3	2	3	1	4	2	4	1	4	3	3	rs146169701		TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr20:34242782C>T	ENST00000374114.3	-	3	726	c.463G>A	c.(463-465)Gta>Ata	p.V155I	CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.V155I|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_5'Flank|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.V155I|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	155						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GCTGTTCCTACGCTGGCTGTG	0.478																																																	0								C	,,,,,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	147	145	145		,,,,,463,463,463,463	-0.8	1	20	dbSNP_134	145	0,8600		0,0,4300	yes	intron,intron,intron,intron,intron,missense,missense,missense,missense	CPNE1,RBM12	NM_001198863.1,NM_152925.2,NM_152926.2,NM_152927.2,NM_152928.2,NM_152838.3,NM_006047.5,NM_001198840.1,NM_001198838.1	,,,,,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,benign,benign,benign,benign	,,,,,155/933,155/933,155/933,155/933	34242782	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.463G>A	20.37:g.34242782C>T	ENSP00000363228:p.Val155Ile		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V155I	ENST00000374114.3	37	c.463	CCDS13261.1	20	.	.	.	.	.	.	.	.	.	.	C	1.660	-0.511738	0.04200	2.27E-4	0.0	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000424458	T;T;T;T	0.26067	2.4;2.4;2.4;1.76	5.39	-0.764	0.11027	.	0.509122	0.19976	N	0.101862	T	0.11537	0.0281	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27739	-1.0065	10	0.09084	T	0.74	-1.0017	10.805	0.46512	0.0:0.5071:0.0:0.4929	.	155	Q9NTZ6	RBM12_HUMAN	I	155	ENSP00000363228:V155I;ENSP00000352668:V155I;ENSP00000363217:V155I;ENSP00000411036:V155I	ENSP00000352668:V155I	V	-	1	0	RBM12	33706196	0.988000	0.35896	0.997000	0.53966	0.943000	0.58893	0.075000	0.14686	-0.020000	0.14032	-1.192000	0.01694	GTA	RBM12	-	NULL	ENSG00000244462		0.478	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	-	0	38	0	C	NM_006047		34242782	-1	tier1	rs146169701	no_errors	ENST00000359646	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.996	T	T	34242782	C	T	34242782	3	4	159	1	0	0	0	0	1	0	0	0	13158	536	19	1	2339	1	RBM12	20	34242782	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	367289	34242782	28782738	206	40484											
EDN3	1908	genome.wustl.edu	37	chr20	57899499	57899499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccgctgcctctttcaGgaaggagccccttaggagga	7	8	12	14	1	2	0	1	0	1	0	2	4	2	4	5	4	3	1	5	4	2	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr20:57899499G>A	ENST00000337938.2	+	5	1088	c.702G>A	c.(700-702)caG>caA	p.Q234Q	EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000395654.3_Silent_p.Q220Q|EDN3_ENST00000371028.2_Silent_p.Q234Q	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	234					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)					GCCTCTTTCAGGAAGGAGCCC	0.562																																																	0													75	77	77					20																	57899499		2203	4300	6503	SO:0001819	synonymous_variant	0			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.702G>A	20.37:g.57899499G>A			E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Silent	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.Q234	ENST00000337938.2	37	c.702	CCDS13477.1	20																																																																																			EDN3	-	NULL	ENSG00000124205		0.562	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDN3	HGNC	protein_coding	OTTHUMT00000079919.2	-	0	17	0	G	NM_000114		57899499	1	tier1	-	no_errors	ENST00000337938	ensembl	human	known	74_37	silent	45.00	11	9	SNP	0.001	A	A	57899499	G	A	57899499	2	1	159	1	0	0	0	0	0	0	0	1	4932	991	35	3		3	EDN3	20	57899499	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	23656717	57899499	5126021	207	40485											
DIDO1	11083	genome.wustl.edu	37	chr20	61511340	61511340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggacccccgtagtccacCaaactgcaggggtgcaggcg	8	5	14	14	3	0	0	0	0	0	0	1	1	1	1	4	4	4	3	4	4	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr20:61511340C>A	ENST00000266070.4	-	16	6293	c.5968G>T	c.(5968-5970)Ggt>Tgt	p.G1990C	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1990C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1990	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTAGTCCACCAAACTGCAGG	0.597																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													106	126	119					20																	61511340		2202	4299	6501	SO:0001583	missense	0			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.5968G>T	20.37:g.61511340C>A	ENSP00000266070:p.Gly1990Cys		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.G1990C	ENST00000266070.4	37	c.5968	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076542	0.36662	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.10382	2.88;2.88	4.91	1.87	0.25490	.	0.378437	0.18629	N	0.135625	T	0.19685	0.0473	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	P	0.58013	0.831	T	0.00724	-1.1593	10	0.59425	D	0.04	-7.3074	8.675	0.34174	0.0:0.7473:0.1255:0.1272	.	1990	Q9BTC0	DIDO1_HUMAN	C	1990	ENSP00000266070:G1990C;ENSP00000378752:G1990C	ENSP00000266070:G1990C	G	-	1	0	DIDO1	60981785	0.998000	0.40836	0.001000	0.08648	0.036000	0.12997	2.479000	0.45197	0.203000	0.20529	0.561000	0.74099	GGT	DIDO1	-	NULL	ENSG00000101191		0.597	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0	73	0	C	NM_080796		61511340	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	32.28	86	41	SNP	0.923	A	A	61511340	C	A	61511340	3	1	159	1	0	0	0	0	1	0	0	0	4536	594	21	3	758	3	DIDO1	20	61511340	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	3611841	61511340	1514180	208	40486											
SAMSN1	64092	genome.wustl.edu	37	chr21	15882676	15882676	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggacttggcgtgaaatcCgtatgcactctggcacggcc	8	9	13	11	3	1	1	0	1	1	0	2	2	2	2	2	4	1	3	2	4	3	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr21:15882676C>T	ENST00000400566.1	-	5	597	c.516G>A	c.(514-516)acG>acA	p.T172T	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Silent_p.T240T	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	172	SH3.				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)		GCGTGAAATCCGTATGCACTC	0.483																																																	0													146	146	146					21																	15882676		2181	4282	6463	SO:0001819	synonymous_variant	0			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.516G>A	21.37:g.15882676C>T			B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Silent	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.T172	ENST00000400566.1	37	c.516	CCDS42906.1	21																																																																																			SAMSN1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	ENSG00000155307		0.483	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMSN1	HGNC	protein_coding	OTTHUMT00000157914.1	-	0	27	0	C			15882676	-1	tier1	-	no_errors	ENST00000400566	ensembl	human	known	74_37	silent	53.57	13	15	SNP	0.132	T	T	15882676	C	T	15882676	2	4	159	1	0	0	0	0	0	0	0	1	13875	639	23	1		1	SAMSN1	21	15882676	Silent	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		15882676	32247219	209	40487											
RCAN1	1827	genome.wustl.edu	37	chr21	35893939	35893939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggcggagccaggtgtgaGcttcctatgtgtaaggtctg	6	13	15	7	1	1	1	0	1	1	0	2	2	2	2	2	4	2	2	2	4	2	4			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr21:35893939G>A	ENST00000313806.4	-	3	574	c.444C>T	c.(442-444)agC>agT	p.S148S	RCAN1_ENST00000381132.2_Silent_p.S93S|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000399272.1_Silent_p.S67S|RCAN1_ENST00000482533.1_Silent_p.S13S|RCAN1_ENST00000487990.1_Silent_p.S13S|RCAN1_ENST00000443408.2_Silent_p.S13S|RCAN1_ENST00000381135.3_Silent_p.S138S|RCAN1_ENST00000492600.1_Silent_p.S93S|RCAN1_ENST00000481448.1_Silent_p.S138S	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	148					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						CCAGGTGTGAGCTTCCTATGT	0.547																																																	0													82	84	83					21																	35893939		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"Down syndrome critical region gene 1"	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.444C>T	21.37:g.35893939G>A			D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Silent	SNP	pfam_Calcipressin	p.S148	ENST00000313806.4	37	c.444	CCDS13637.1	21																																																																																			RCAN1	-	pfam_Calcipressin	ENSG00000159200		0.547	RCAN1-001	KNOWN	basic|CCDS	protein_coding	RCAN1	HGNC	protein_coding	OTTHUMT00000194142.1	-	0	27	0	G			35893939	-1	tier1	-	no_errors	ENST00000313806	ensembl	human	known	74_37	silent	25.64	29	10	SNP	0.834	A	A	35893939	G	A	35893939	2	1	159	1	0	0	0	0	0	0	0	1	13213	962	34	3		3	RCAN1	21	35893939	Silent	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	20011263	35893939	12235956	210	40488											
UMODL1	89766	genome.wustl.edu	37	chr21	43504206	43504206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctcccagccctgaatcagtCcgggcagttcacgtcaagac	9	8	9	15	2	4	2	3	1	1	1	6	2	5	2	3	1	1	2	3	1	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr21:43504206C>T	ENST00000408910.2	+	3	332	c.332C>T	c.(331-333)tCc>tTc	p.S111F	UMODL1_ENST00000400424.2_Missense_Mutation_p.S39F|UMODL1_ENST00000400427.1_Missense_Mutation_p.S39F|UMODL1_ENST00000408989.2_Missense_Mutation_p.S111F	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	111					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						CTGAATCAGTCCGGGCAGTTC	0.557																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													148	161	157					21																	43504206		1939	4127	6066	SO:0001583	missense	0				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.332C>T	21.37:g.43504206C>T	ENSP00000386147:p.Ser111Phe		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.S111F	ENST00000408910.2	37	c.332	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763231	0.31228	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.79653	-1.27;-1.25;-1.29;-1.27	3.86	3.86	0.44501	Whey acidic protein, 4-disulphide core (1);	0.000000	0.47093	D	0.000253	D	0.87513	0.6196	M	0.67953	2.075	0.35912	D	0.831209	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.981	D	0.91088	0.4904	10	0.87932	D	0	-31.1465	13.7599	0.62959	0.0:1.0:0.0:0.0	.	111;111	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	F	39;39;111;111	ENSP00000383279:S39F;ENSP00000383276:S39F;ENSP00000386126:S111F;ENSP00000386147:S111F	ENSP00000383276:S39F	S	+	2	0	UMODL1	42377275	0.590000	0.26815	0.808000	0.32385	0.026000	0.11368	2.861000	0.48380	2.449000	0.82847	0.563000	0.77884	TCC	UMODL1	-	superfamily_WAP-type_4-diS_core	ENSG00000177398		0.557	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2		0	37	0	C			43504206	1			no_errors	ENST00000408989	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.749	T	T	43504206	C	T	43504206	3	4	159	1	0	0	0	0	1	0	0	0	17029	855	30	3	342	3	UMODL1	21	43504206	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	7610267	43504206	4625689	211	40489											
COL18A1	80781	genome.wustl.edu	37	chr21	46895411	46895411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccggagactctggcagcGggctcggggacgcccgggag	6	4	18	13	5	1	1	0	0	1	1	3	4	2	3	2	6	1	2	2	6	0	0			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr21:46895411G>A	ENST00000359759.4	+	4	2026	c.2005G>A	c.(2005-2007)Ggg>Agg	p.G669R	COL18A1_ENST00000355480.5_Missense_Mutation_p.G434R|COL18A1_ENST00000400337.2_Missense_Mutation_p.G254R			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	669	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)		CTCTGGCAGCGGGCTCGGGGA	0.692																																																	0													16	18	17					21																	46895411		1866	4083	5949	SO:0001583	missense	0				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.2005G>A	21.37:g.46895411G>A	ENSP00000352798:p.Gly669Arg		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.G669R	ENST00000359759.4	37	c.2005		21	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333790	0.41297	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.50548	0.74;0.74;0.74	2.98	2.98	0.34508	.	0.259771	0.36409	N	0.002604	T	0.58409	0.2120	L	0.49778	1.585	0.42832	D	0.994027	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.60110	-0.7327	10	0.56958	D	0.05	.	9.7232	0.40315	0.0:0.0:1.0:0.0	.	669;434;254	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	R	254;254;434;669;669	ENSP00000383191:G254R;ENSP00000347665:G434R;ENSP00000352798:G669R	ENSP00000347665:G434R	G	+	1	0	COL18A1	45719839	0.997000	0.39634	0.746000	0.31095	0.019000	0.09904	4.422000	0.59854	1.983000	0.57843	0.196000	0.17591	GGG	COL18A1	-	NULL	ENSG00000182871		0.692	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	-	0	73	0	G			46895411	1	tier1	-	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.786	A	A	46895411	G	A	46895411	3	1	159	1	0	0	0	0	1	0	0	0	3682	1116	39	1	2133	1	COL18A1	21	46895411	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	3391205	46895411	1234484	212	40490											
TPST2	8459	genome.wustl.edu	37	chr22	26932333	26932333	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	aagggtcatagccgagctgaGccagcatgggggcgatctgg	9	6	17	9	2	2	1	1	1	1	0	2	3	2	1	2	4	4	2	2	4	2	1			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr22:26932333G>A	ENST00000338754.4	-	4	1232	c.962C>T	c.(961-963)gCt>gTt	p.A321V	TPST2_ENST00000398110.2_Missense_Mutation_p.A321V|TPST2_ENST00000403880.1_Missense_Mutation_p.A321V	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	321					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GCCGAGCTGAGCCAGCATGGG	0.587																																																	0													71	61	64					22																	26932333		2203	4300	6503	SO:0001583	missense	0			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.962C>T	22.37:g.26932333G>A	ENSP00000339813:p.Ala321Val		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.A321V	ENST00000338754.4	37	c.962	CCDS13839.1	22	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823646	0.50739	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000445720	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.88	4.88	0.63580	.	0.173560	0.39544	N	0.001321	T	0.45736	0.1357	M	0.78049	2.395	0.54753	D	0.999984	B	0.32302	0.363	B	0.27076	0.076	T	0.49072	-0.8977	10	0.39692	T	0.17	-6.7478	17.2272	0.86973	0.0:0.0:1.0:0.0	.	321	O60704	TPST2_HUMAN	V	321;321;321;254;68	ENSP00000339813:A321V;ENSP00000381180:A321V;ENSP00000385192:A321V;ENSP00000403758:A68V	ENSP00000339813:A321V	A	-	2	0	TPST2	25262333	1.000000	0.71417	0.997000	0.53966	0.698000	0.40448	5.752000	0.68728	2.535000	0.85469	0.655000	0.94253	GCT	TPST2	-	superfamily_P-loop_NTPase	ENSG00000128294		0.587	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	-	0	47	0	G	NM_003595		26932333	-1	tier1	-	no_errors	ENST00000338754	ensembl	human	known	74_37	missense	44.44	20	16	SNP	1.000	A	A	26932333	G	A	26932333	3	1	159	1	0	0	0	0	1	0	0	0	16476	971	34	3	183	3	TPST2	22	26932333	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09		26932333	24372233	213	40491											
SMC1B	27127	genome.wustl.edu	37	chr22	45745630	45745630	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcctatgttagtattgtcTagggctgcatccacttcatc	7	16	8	10	0	2	0	1	0	1	0	4	0	3	0	2	1	2	4	2	1	4	7			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr22:45745630T>C	ENST00000357450.4	-	23	3473	c.3474A>G	c.(3472-3474)ctA>ctG	p.L1158L	SMC1B_ENST00000404354.3_Intron	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1158	Ala/Asp-rich (DA-box).				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)		TAGTATTGTCTAGGGCTGCAT	0.333																																																	0													94	90	91					22																	45745630		1866	4107	5973	SO:0001819	synonymous_variant	0			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.3474A>G	22.37:g.45745630T>C			A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.L1158	ENST00000357450.4	37	c.3474	CCDS43027.1	22																																																																																			SMC1B	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000077935		0.333	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2	-	0	127	0	T	NM_148674		45745630	-1	tier1	-	no_errors	ENST00000357450	ensembl	human	known	74_37	silent	29.89	61	26	SNP	1.000	C	C	45745630	T	C	45745630	2	2	159	1	0	0	0	0	0	0	0	1	14827	1509	53	4		4	SMC1B	22	45745630	Silent	SNP	T	TCGA-V5-AASW-01A-11D-A403-09	18813297	45745630	5558936	214	40492											
CELSR1	9620	genome.wustl.edu	37	chr22	46780441	46780441	+	Splice_Site	DEL	T	T	-																															ggtttctaagcggttttaccTttttcttcaggtggtctgaa																										TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chr22:46780441delT	ENST00000262738.3	-	20	6881	c.6882delA	c.(6880-6882)aaa>aa	p.K2294fs		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2294					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)		CGGTTTTACCTTTTTCTTCAG	0.612																																																	0													36	38	37					22																	46780441		2203	4300	6503	SO:0001630	splice_region_variant	0			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.6883+1A>-	22.37:g.46780441delT			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.E2295fs	ENST00000262738.3	37	c.6882	CCDS14076.1	22																																																																																			CELSR1	-	pfam_DUF3497	ENSG00000075275		0.612	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1		0	45	0	T	NM_014246	Frame_Shift_Del	46780441	-1	tier1		no_errors	ENST00000262738	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	0.959	-	-	46780441	T	-	46780441	8	5	159	1	0	1	0	1	0	0	1	0	3228	1623	56	0	2226	0	CELSR1	22	46780441	Splice_Site	DEL	T	TCGA-V5-AASW-01A-11D-A403-09	1034811	46780441	4524125	215	40493											
PHKA1	5255	genome.wustl.edu	37	chrX	71855004	71855004	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgcctcatgcagcccttaCcaagcatgctgtgtgagatg	8	11	10	12	0	1	1	1	1	0	1	1	2	1	1	3	0	6	3	3	0	2	2			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chrX:71855004C>G	ENST00000373542.4	-	16	1874		c.e16+1		PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000373545.3_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						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)					GCAGCCCTTACCAAGCATGCT	0.458																																																	0													122	98	106					X																	71855004		2203	4300	6503	SO:0001630	splice_region_variant	0				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.1714+1G>C	X.37:g.71855004C>G			B7ZL05|B7ZL07|Q2M3D7	Splice_Site	SNP	-	e16+1	ENST00000373542.4	37	c.1714+1	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785436	0.49997	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9669	0.64213	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHKA1	71771729	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	7.692000	0.84203	1.956000	0.56807	0.415000	0.27848	.	PHKA1	-	-	ENSG00000067177		0.458	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	-	0	40	0	C		Intron	71855004	-1	tier1	-	no_errors	ENST00000373539	ensembl	human	known	74_37	splice_site	26.83	30	11	SNP	1.000	G	G	71855004	C	G	71855004	5	3	159	1	0	0	0	0	0	0	1	0	11882	521	18	5	2024	5	PHKA1	23	71855004	Splice_Site	SNP	C	TCGA-V5-AASW-01A-11D-A403-09		71855004	83415556	216	40494											
DOCK11	139818	genome.wustl.edu	37	chrX	117773511	117773511	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ccggcttcagcatcttagtaGcctagaaagttcatttacac	11	12	7	11	1	3	1	2	0	1	1	3	1	3	1	2	1	3	4	2	1	5	7			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chrX:117773511G>A	ENST00000276202.7	+	38	4178	c.4115G>A	c.(4114-4116)aGc>aAc	p.S1372N	DOCK11_ENST00000276204.6_Missense_Mutation_p.S1372N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1372					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1372I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CATCTTAGTAGCCTAGAAAGT	0.408																																																	1	Substitution - Missense(1)	lung(1)											77	66	70					X																	117773511		2203	4300	6503	SO:0001583	missense	0			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.4115G>A	X.37:g.117773511G>A	ENSP00000276202:p.Ser1372Asn		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S1372N	ENST00000276202.7	37	c.4115	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352478	0.61293	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.02085	4.46;4.46	5.12	5.12	0.69794	.	0.145260	0.64402	D	0.000012	T	0.09379	0.0231	M	0.71581	2.175	0.40204	D	0.977559	P;P	0.51791	0.948;0.948	P;P	0.54965	0.765;0.765	T	0.06373	-1.0830	10	0.42905	T	0.14	-17.9158	18.0422	0.89322	0.0:0.0:1.0:0.0	.	1372;1372	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	1372	ENSP00000276204:S1372N;ENSP00000276202:S1372N	ENSP00000276202:S1372N	S	+	2	0	DOCK11	117657539	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.560000	0.60802	2.284000	0.76573	0.468000	0.43344	AGC	DOCK11	-	NULL	ENSG00000147251		0.408	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	-	0	60	0	G	NM_144658		117773511	1	tier1	-	no_errors	ENST00000276202	ensembl	human	known	74_37	missense	37.97	49	30	SNP	1.000	A	A	117773511	G	A	117773511	3	1	159	1	0	0	0	0	1	0	0	0	4700	971	34	3	4265	3	DOCK11	23	117773511	Missense_Mutation	SNP	G	TCGA-V5-AASW-01A-11D-A403-09	45918507	117773511	37497049	217	40495											
ODZ1	10178	genome.wustl.edu	37	chrX	124029838	124029838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagtttattaccattttccCcatcagacttcctttcatgg	8	17	5	11	0	2	1	2	0	0	1	4	1	4	1	4	1	1	2	4	1	3	8			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chrX:124029838C>T	ENST00000371130.3	-	2	533	c.470G>A	c.(469-471)gGg>gAg	p.G157E	TENM1_ENST00000422452.2_Missense_Mutation_p.G157E	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	157	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										ACCATTTTCCCCATCAGACTT	0.408																																																	0													157	140	146					X																	124029838		2203	4300	6503	SO:0001583	missense	0			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.470G>A	X.37:g.124029838C>T	ENSP00000360171:p.Gly157Glu		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.G157E	ENST00000371130.3	37	c.470	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545265	0.65198	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.26957	1.7;1.7	5.56	5.56	0.83823	Teneurin intracellular, N-terminal (2);	0.168747	0.40908	D	0.000985	T	0.23886	0.0578	N	0.11427	0.14	0.45490	D	0.998451	P;P;P	0.48089	0.905;0.905;0.905	P;P;P	0.50490	0.642;0.642;0.642	T	0.06588	-1.0818	10	0.25106	T	0.35	.	18.7885	0.91964	0.0:1.0:0.0:0.0	.	157;157;157	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	E	157	ENSP00000360171:G157E;ENSP00000403954:G157E	ENSP00000360171:G157E	G	-	2	0	ODZ1	123857519	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.389000	0.59639	2.469000	0.83416	0.600000	0.82982	GGG	TENM1	-	pfam_Ten_N	ENSG00000009694		0.408	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0	50	0	C	NM_014253		124029838	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	124029838	C	T	124029838	3	4	159	1	0	0	0	0	1	0	0	0	10873	623	22	3	7852	3	ODZ1	23	124029838	Missense_Mutation	SNP	C	TCGA-V5-AASW-01A-11D-A403-09	6256327	124029838	31240722	218	40496											
AFF2	2334	genome.wustl.edu	37	chrX	148048401	148048401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactgctactgtcactgctActgccattgtcaccaccact	8	11	5	17	0	2	0	2	0	0	0	2	0	2	0	4	0	5	2	4	0	2	3			TCGA-V5-AASW-01A-11D-A403-09	TCGA-V5-AASW-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8546b3e1-e5d7-4020-bb50-f0459a2d32a8	2c1d5ac0-914f-4a71-b628-e03a40648085	g.chrX:148048401A>G	ENST00000370460.2	+	14	3474	c.2995A>G	c.(2995-2997)Act>Gct	p.T999A	AFF2_ENST00000370457.5_Missense_Mutation_p.T964A|AFF2_ENST00000342251.3_Missense_Mutation_p.T966A|AFF2_ENST00000286437.5_Missense_Mutation_p.T640A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	999					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)					tgtcactgctactgccaTTGT	0.522																																																	0													269	165	200					X																	148048401		2203	4300	6503	SO:0001583	missense	0			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.2995A>G	X.37:g.148048401A>G	ENSP00000359489:p.Thr999Ala		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.T999A	ENST00000370460.2	37	c.2995	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	A	9.574	1.121909	0.20877	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.72505	-0.06;-0.3;-0.32;-0.66	3.59	2.42	0.29668	.	1.742040	0.03353	N	0.196495	T	0.55924	0.1951	L	0.29908	0.895	0.21290	N	0.999738	B;B;B;B;B;B	0.21071	0.051;0.004;0.004;0.004;0.004;0.004	B;B;B;B;B;B	0.20577	0.03;0.01;0.01;0.01;0.01;0.017	T	0.37174	-0.9717	10	0.08837	T	0.75	.	4.7437	0.13028	0.8545:0.0:0.1455:0.0	.	640;964;964;960;989;999	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	A	999;964;966;640	ENSP00000359489:T999A;ENSP00000359486:T964A;ENSP00000345459:T966A;ENSP00000286437:T640A	ENSP00000286437:T640A	T	+	1	0	AFF2	147856095	0.997000	0.39634	0.939000	0.37840	0.915000	0.54546	0.578000	0.23773	0.585000	0.29608	0.412000	0.27726	ACT	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.522	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0	31	0	A	NM_002025		148048401	1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	38.71	19	12	SNP	0.933	G	G	148048401	A	G	148048401	3	3	159	1	0	0	0	0	1	0	0	0	357	391	14	4	3104	4	AFF2	23	148048401	Missense_Mutation	SNP	A	TCGA-V5-AASW-01A-11D-A403-09	24018563	148048401	7222159	219	40497											
AJAP1	55966	genome.wustl.edu	37	chr1	4772620	4772620	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacggccacccccatgacGctgcagactaaggggttcac	10	5	10	16	2	1	2	1	1	0	1	1	2	1	2	4	3	1	3	4	3	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:4772620G>A	ENST00000378191.4	+	2	1071	c.690G>A	c.(688-690)acG>acA	p.T230T	AJAP1_ENST00000378190.3_Silent_p.T230T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	230	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)		cccccaTGACGCTGCAGACTA	0.627																																																	0													40	39	39					1																	4772620		2202	4299	6501	SO:0001819	synonymous_variant	0			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.690G>A	1.37:g.4772620G>A			Q9Y229	Silent	SNP	NULL	p.T230	ENST00000378191.4	37	c.690	CCDS54.1	1																																																																																			AJAP1	-	NULL	ENSG00000196581		0.627	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	-	0	87	0	G	NM_018836		4772620	1	tier1	-	no_errors	ENST00000378190	ensembl	human	known	74_37	silent	19.18	59	14	SNP	0.537	A	A	4772620	G	A	4772620	2	1	160	1	0	0	0	0	0	0	0	1	438	1074	38	1		1	AJAP1	1	4772620	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09		4772620	244478001	1	40498											
KIF1B	23095	genome.wustl.edu	37	chr1	10364491	10364491	+	Intron	SNP	A	A	T	1	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	cagtggtcaccccactgctgAtgtacagactttccaggcaa	10	9	9	13	0	1	2	1	1	0	1	2	2	2	2	3	2	2	3	3	2	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:10364491A>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.D1083V|KIF1B_ENST00000377093.4_Missense_Mutation_p.D1083V|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)		CCCACTGCTGATGTACAGACT	0.502																																																	0													87	84	85					1																	10364491		2203	4300	6503	SO:0001627	intron_variant	0			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+7187A>T	1.37:g.10364491A>T			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D1083V	ENST00000377086.1	37	c.3248		1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.186973	0.38609	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.74737	-0.87;-0.87	5.72	5.72	0.89469	.	.	.	.	.	T	0.78861	0.4350	.	.	.	0.80722	D	1	P	0.39250	0.665	P	0.46208	0.507	T	0.80903	-0.1174	8	0.72032	D	0.01	.	16.0204	0.80478	1.0:0.0:0.0:0.0	.	1083	O60333-3	.	V	1083	ENSP00000366297:D1083V;ENSP00000366287:D1083V	ENSP00000366287:D1083V	D	+	2	0	KIF1B	10287078	1.000000	0.71417	0.806000	0.32338	0.985000	0.73830	5.156000	0.64905	2.174000	0.68829	0.533000	0.62120	GAT	KIF1B	-	NULL	ENSG00000054523		0.502	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	-	0	47	0	A			10364491	1	tier1	-	no_errors	ENST00000377083	ensembl	human	known	74_37	missense	39.53	26	17	SNP	0.978	T	T	10364491	A	T	10364491	1	4	160	0	1	0	0	0	0	0	0	0	8311	333	12	5		5	KIF1B	1	10364491	Intron	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	5591871	10364491	238886130	2	40499											
PRDM2	7799	genome.wustl.edu	37	chr1	14106905	14106905	+	Missense_Mutation	SNP	A	A	C	1	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	caaagaaagtcattcagtgcAgcctacgtgtagtgctgtaa	13	10	10	8	1	2	1	2	0	0	1	2	1	2	1	1	0	4	4	1	0	5	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:14106905A>C	ENST00000235372.7	+	8	3471	c.2615A>C	c.(2614-2616)cAg>cCg	p.Q872P	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.Q671P|PRDM2_ENST00000311066.5_Missense_Mutation_p.Q872P|PRDM2_ENST00000413440.1_Missense_Mutation_p.Q671P|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	872					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)		CATTCAGTGCAGCCTACGTGT	0.418																																																	0													105	98	101					1																	14106905		2203	4300	6503	SO:0001583	missense	0			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.2615A>C	1.37:g.14106905A>C	ENSP00000235372:p.Gln872Pro		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.Q872P	ENST00000235372.7	37	c.2615	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	A	1.550	-0.539388	0.04053	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01745	4.78;4.66;4.66;4.66	5.91	0.726	0.18248	.	0.183672	0.38720	N	0.001595	T	0.04952	0.0133	M	0.63428	1.95	0.09310	N	0.999999	B;D;D	0.71674	0.001;0.996;0.998	B;P;P	0.59703	0.001;0.731;0.862	T	0.25572	-1.0128	10	0.36615	T	0.2	.	8.2672	0.31821	0.4758:0.3971:0.0:0.1271	.	730;872;872	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	P	872;872;872;671;671	ENSP00000235372:Q872P;ENSP00000312352:Q872P;ENSP00000411103:Q671P;ENSP00000341621:Q671P	ENSP00000235372:Q872P	Q	+	2	0	PRDM2	13979492	0.999000	0.42202	0.001000	0.08648	0.022000	0.10575	2.041000	0.41213	-0.120000	0.11809	0.533000	0.62120	CAG	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot	ENSG00000116731		0.418	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	-	0	63	0	A	NM_012231		14106905	1	tier1	-	no_errors	ENST00000235372	ensembl	human	known	74_37	missense	13.64	57	9	SNP	0.046	C	C	14106905	A	C	14106905	3	2	160	1	0	0	0	0	1	0	0	0	12500	188	7	4	2641	4	PRDM2	1	14106905	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	3742414	14106905	235143716	3	40500											
KAZ	23254	genome.wustl.edu	37	chr1	15370554	15370554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgagaagtgggagctgCggcgccaagccaaggaggcc	10	3	18	10	3	0	1	0	1	0	1	0	4	0	3	3	4	4	1	3	4	3	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:15370554C>T	ENST00000376030.2	+	4	919	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	KAZN_ENST00000361144.5_Missense_Mutation_p.R203W|KAZN_ENST00000400798.2_Missense_Mutation_p.R115W|KAZN_ENST00000422387.2_Missense_Mutation_p.R209W|KAZN_ENST00000400797.3_Missense_Mutation_p.R115W|KAZN_ENST00000503743.1_Missense_Mutation_p.R209W	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	209	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						GTGGGAGCTGCGGCGCCAAGC	0.657																																																	0													73	60	64					1																	15370554		2202	4300	6502	SO:0001583	missense	0			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.625C>T	1.37:g.15370554C>T	ENSP00000365198:p.Arg209Trp		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R209W	ENST00000376030.2	37	c.625	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471032	0.84533	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000376028;ENST00000400798;ENST00000400797	T;T;T;T;T;T;T	0.79033	0.68;0.68;0.68;0.68;-1.23;-1.23;-1.23	5.57	4.65	0.58169	.	0.057408	0.64402	D	0.000002	D	0.86024	0.5834	M	0.62723	1.935	0.53688	D	0.999978	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.978;0.978;0.985;0.998	D	0.87203	0.2242	10	0.66056	D	0.02	-32.2369	14.7811	0.69769	0.1455:0.8545:0.0:0.0	.	209;115;203;209	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	W	209;209;209;203;115;115;115	ENSP00000365198:R209W;ENSP00000426015:R209W;ENSP00000391728:R209W;ENSP00000354727:R203W;ENSP00000365196:R115W;ENSP00000383602:R115W;ENSP00000383601:R115W	ENSP00000354727:R203W	R	+	1	2	KAZN	15243141	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.009000	0.29886	1.316000	0.45131	0.563000	0.77884	CGG	KAZN	-	NULL	ENSG00000189337		0.657	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	-	0	53	0	C	NM_001017999		15370554	1	tier1	-	no_errors	ENST00000376030	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	15370554	C	T	15370554	3	4	160	1	0	0	0	0	1	0	0	0	8015	759	27	1	851	1	KAZ	1	15370554	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1263649	15370554	233880067	4	40501											
USP48	84196	genome.wustl.edu	37	chr1	22033007	22033007	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttttatcctggaacaaatTtgggagagaagtcttttgct	10	16	10	5	0	1	1	0	0	1	1	2	4	2	3	1	2	2	2	1	2	4	6	rs368720845		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:22033007T>C	ENST00000308271.9	-	17	2812	c.2164A>G	c.(2164-2166)Aat>Gat	p.N722D	USP48_ENST00000529637.1_Missense_Mutation_p.N734D|USP48_ENST00000400301.1_Missense_Mutation_p.N722D|USP48_ENST00000374732.3_Missense_Mutation_p.N260D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	722	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TGGAACAAATTTGGGAGAGAA	0.373																																																	0								T	ASP/ASN	0,4406		0,0,2203	123	127	125		2164	5.8	1	1		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP48	NM_032236.5	23	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	722/1036	22033007	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2164A>G	1.37:g.22033007T>C	ENSP00000309262:p.Asn722Asp		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.N722D	ENST00000308271.9	37	c.2164	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547786	0.45383	0.0	1.16E-4	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T	0.04406	3.63;3.63;3.67	5.84	5.84	0.93424	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	L	0.41415	1.275	0.80722	D	1	D;B;B;B;P	0.71674	0.998;0.07;0.347;0.076;0.884	D;B;B;B;B	0.76071	0.987;0.006;0.12;0.014;0.275	T	0.25467	-1.0131	10	0.20046	T	0.44	.	15.3935	0.74767	0.0:0.0:0.0:1.0	.	734;722;722;722;260	B7ZKS7;B7ZKS3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	D	722;722;260;734	ENSP00000383157:N722D;ENSP00000309262:N722D;ENSP00000431949:N734D	ENSP00000309262:N722D	N	-	1	0	USP48	21905594	1.000000	0.71417	0.959000	0.39883	0.982000	0.71751	6.948000	0.75965	2.231000	0.72958	0.455000	0.32223	AAT	USP48	-	NULL	ENSG00000090686		0.373	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	-	0	87	0	T	NM_032236		22033007	-1	tier1	-	no_errors	ENST00000308271	ensembl	human	known	74_37	missense	13.58	70	11	SNP	0.999	C	C	22033007	T	C	22033007	3	2	160	1	0	0	0	0	1	0	0	0	17128	1841	64	4	987	4	USP48	1	22033007	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	6662453	22033007	227217614	5	40502											
WASF2	10163	genome.wustl.edu	37	chr1	27736341	27736341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccggaggaggaggaggaGggggaggaggaggtgctcct	8	3	23	7	1	0	0	0	0	0	0	1	8	1	8	3	10	1	1	3	10	0	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:27736341G>A	ENST00000430629.2	-	8	1399	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	395	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		aggaggaggagggggaggagg	0.647																																																	0													52	53	53					1																	27736341		2203	4300	6503	SO:0001583	missense	0			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1184C>T	1.37:g.27736341G>A	ENSP00000396211:p.Pro395Leu		B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P395L	ENST00000430629.2	37	c.1184	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066319	0.36470	.	.	ENSG00000158195	ENST00000430629	T	0.57907	0.37	4.53	4.53	0.55603	.	0.264309	0.36628	N	0.002485	T	0.70116	0.3187	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67891	-0.5553	10	0.23302	T	0.38	-5.9765	16.9188	0.86158	0.0:0.0:1.0:0.0	.	395	Q9Y6W5	WASF2_HUMAN	L	395	ENSP00000396211:P395L	ENSP00000396211:P395L	P	-	2	0	WASF2	27608928	1.000000	0.71417	0.298000	0.25002	0.713000	0.41058	5.646000	0.67916	2.086000	0.62901	0.539000	0.68188	CCT	WASF2	-	NULL	ENSG00000158195		0.647	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1	-	0	129	0	G	NM_006990		27736341	-1	tier1	-	no_errors	ENST00000430629	ensembl	human	known	74_37	missense	24.35	87	28	SNP	0.995	A	A	27736341	G	A	27736341	3	1	160	1	0	0	0	0	1	0	0	0	17302	1000	35	3	320	3	WASF2	1	27736341	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	5703334	27736341	221514280	6	40503											
AHDC1	27245	genome.wustl.edu	37	chr1	27875440	27875440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	catgtagccaccgggcgagaCtgtgctggcccggctgtcac	6	7	14	14	3	1	1	1	0	0	1	1	2	1	1	3	3	2	3	3	3	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:27875440C>T	ENST00000247087.5	-	5	3783	c.3187G>A	c.(3187-3189)Gtc>Atc	p.V1063I	AHDC1_ENST00000374011.2_Missense_Mutation_p.V1063I			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1063							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)		CCGGGCGAGACTGTGCTGGCC	0.682																																																	0													10	11	11					1																	27875440		2178	4272	6450	SO:0001583	missense	0			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.3187G>A	1.37:g.27875440C>T	ENSP00000247087:p.Val1063Ile		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	NULL	p.V1063I	ENST00000247087.5	37	c.3187	CCDS30652.1	1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202160	0.38905	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.50548	0.74;0.74	5.79	5.79	0.91817	.	0.381500	0.21690	N	0.070583	T	0.31482	0.0798	N	0.14661	0.345	0.26697	N	0.97123	P	0.36874	0.572	B	0.33960	0.173	T	0.31166	-0.9953	10	0.49607	T	0.09	-19.6271	13.7301	0.62783	0.1541:0.8459:0.0:0.0	.	1063	Q5TGY3	AHDC1_HUMAN	I	1063	ENSP00000247087:V1063I;ENSP00000363123:V1063I	ENSP00000247087:V1063I	V	-	1	0	AHDC1	27748027	0.992000	0.36948	0.977000	0.42913	0.976000	0.68499	2.856000	0.48341	2.735000	0.93741	0.655000	0.94253	GTC	AHDC1	-	NULL	ENSG00000126705		0.682	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	-	0	59	0	C			27875440	-1	tier1	-	no_errors	ENST00000247087	ensembl	human	known	74_37	missense	12.96	47	7	SNP	0.983	T	T	27875440	C	T	27875440	3	4	160	1	0	0	0	0	1	0	0	0	412	565	20	3	1628	3	AHDC1	1	27875440	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	139099	27875440	221375181	7	40504											
SMPDL3B	27293	genome.wustl.edu	37	chr1	28282257	28282257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgcaaaacaaggcatggttCcgggagggcttcaatgaaaa	15	6	12	8	2	1	1	1	1	0	0	2	2	2	2	1	4	1	4	1	4	6	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:28282257C>T	ENST00000373894.3	+	6	944	c.753C>T	c.(751-753)ttC>ttT	p.F251F	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Silent_p.F251F|SMPDL3B_ENST00000549094.1_Silent_p.F203F	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	251					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		AGGCATGGTTCCGGGAGGGCT	0.562																																																	0													90	86	88					1																	28282257		2203	4300	6503	SO:0001819	synonymous_variant	0			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.753C>T	1.37:g.28282257C>T			B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.F251	ENST00000373894.3	37	c.753	CCDS30655.1	1																																																																																			SMPDL3B	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000130768		0.562	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	HGNC	protein_coding	OTTHUMT00000011170.1	-	0	50	0	C	NM_014474		28282257	1	tier1	-	no_errors	ENST00000373894	ensembl	human	known	74_37	silent	25.49	38	13	SNP	1.000	T	T	28282257	C	T	28282257	2	4	160	1	0	0	0	0	0	0	0	1	14854	854	30	3		3	SMPDL3B	1	28282257	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	406817	28282257	220968364	8	40505											
GNL2	29889	genome.wustl.edu	37	chr1	38032583	38032583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccaacttttttcggcCgttgctgtcgtactgctcgc	5	13	9	14	4	0	0	0	0	0	0	3	0	0	0	2	1	4	5	2	1	2	5	rs372906788		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:38032583C>T	ENST00000373062.3	-	16	2167	c.2069G>A	c.(2068-2070)cGg>cAg	p.R690Q	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	690					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)				TTTTTTCGGCCGTTGCTGTCG	0.413																																																	0								C	GLN/ARG	0,4406		0,0,2203	154	139	145		2069	-2.2	0	1		145	2,8598	2.2+/-6.3	0,2,4298	no	missense	GNL2	NM_013285.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	690/732	38032583	2,13004	2203	4300	6503	SO:0001583	missense	0			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.2069G>A	1.37:g.38032583C>T	ENSP00000362153:p.Arg690Gln		Q9BWN7	Missense_Mutation	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.R690Q	ENST00000373062.3	37	c.2069	CCDS421.1	1	.	.	.	.	.	.	.	.	.	.	C	9.340	1.062748	0.19987	0.0	2.33E-4	ENSG00000134697	ENST00000373062	T	0.23552	1.9	5.23	-2.18	0.07037	.	0.405345	0.28161	N	0.016361	T	0.10766	0.0263	N	0.12746	0.255	0.09310	N	0.999995	B	0.11235	0.004	B	0.08055	0.003	T	0.18713	-1.0328	10	0.33141	T	0.24	-2.7223	7.2398	0.26090	0.0:0.4354:0.1252:0.4395	.	690	Q13823	NOG2_HUMAN	Q	690	ENSP00000362153:R690Q	ENSP00000362153:R690Q	R	-	2	0	GNL2	37805170	0.806000	0.28996	0.003000	0.11579	0.239000	0.25481	1.186000	0.32078	-0.195000	0.10382	-0.367000	0.07326	CGG	GNL2	-	NULL	ENSG00000134697		0.413	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	-	0	100	0	C	NM_013285		38032583	-1	tier1	-	no_errors	ENST00000373062	ensembl	human	known	74_37	missense	9.76	74	8	SNP	0.013	T	T	38032583	C	T	38032583	3	4	160	1	0	0	0	0	1	0	0	0	6562	652	23	1	130	1	GNL2	1	38032583	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	9750326	38032583	211218038	9	40506											
NFYC	4802	genome.wustl.edu	37	chr1	41236499	41236499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccccaggtgaccggcgactGagggcctgagctggcaaggc	7	4	16	14	2	0	3	0	3	0	0	0	4	0	3	4	5	1	2	4	5	1	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:41236499G>A	ENST00000308733.5	+	10	1382	c.1376G>A	c.(1375-1377)tGa>tAa	p.*459*	NFYC_ENST00000372654.1_Silent_p.*336*|NFYC_ENST00000456393.2_Silent_p.*335*|NFYC_ENST00000372653.1_Silent_p.*302*|NFYC_ENST00000425457.2_Silent_p.*355*|NFYC_ENST00000440226.3_Silent_p.*336*|NFYC_ENST00000372652.1_Silent_p.*440*|NFYC_ENST00000447388.3_Silent_p.*336*|NFYC_ENST00000427410.2_Silent_p.*298*|NFYC_ENST00000372651.1_Silent_p.*336*			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	0					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)			ACCGGCGACTGAGGGCCTGAG	0.657																																																	0													44	44	44					1																	41236499		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1376G>A	1.37:g.41236499G>A			B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Silent	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	p.*459	ENST00000308733.5	37	c.1376		1																																																																																			NFYC	-	NULL	ENSG00000066136		0.657	NFYC-007	KNOWN	basic	protein_coding	NFYC	HGNC	protein_coding	OTTHUMT00000020802.1	-	0	87	0	G	NM_014223		41236499	1	tier1	-	no_errors	ENST00000308733	ensembl	human	known	74_37	silent	13.24	59	9	SNP	1.000	A	A	41236499	G	A	41236499	2	1	160	1	0	0	0	0	0	0	0	1	10430	1285	45	3		3	NFYC	1	41236499	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	3203916	41236499	208014122	10	40507											
STIL	6491	genome.wustl.edu	37	chr1	47746641	47746641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagtgtctcaaaagagctgGtttatcctggtttaactgat	10	14	10	7	0	1	2	1	1	1	1	3	2	2	2	1	2	2	4	1	2	4	4	rs114151695		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:47746641G>T	ENST00000360380.3	-	13	1852	c.1489C>A	c.(1489-1491)Cca>Aca	p.P497T	STIL_ENST00000396221.2_Missense_Mutation_p.P497T|STIL_ENST00000243182.6_Missense_Mutation_p.P497T|STIL_ENST00000371877.3_Missense_Mutation_p.P497T|STIL_ENST00000337817.5_Missense_Mutation_p.P497T	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	497					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)				AAAAGAGCTGGTTTATCCTGG	0.453																																																	0													113	103	107					1																	47746641		2203	4300	6503	SO:0001583	missense	0			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.1489C>A	1.37:g.47746641G>T	ENSP00000353544:p.Pro497Thr		Q5T0C5|Q68CN9	Missense_Mutation	SNP	NULL	p.P497T	ENST00000360380.3	37	c.1489	CCDS548.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.006|0.006	-2.099180|-2.099180	0.00360|0.00360	.|.	.|.	ENSG00000123473|ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371874;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475|ENST00000436811	T;T;T;T;T;T|.	0.48522|.	2.17;2.17;2.08;2.16;2.17;0.81|.	0.158|0.158	0.158|0.158	0.14942|0.14942	.|.	1.915300|.	0.06127|.	U|.	0.669967|.	T|T	0.15869|0.15869	0.0382|0.0382	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999;0.999|.	D;D;D;D;D|.	0.87578|.	0.988;0.982;0.982;0.998;0.982|.	T|T	0.28586|0.28586	-1.0039|-1.0039	9|4	0.12430|.	T|.	0.62|.	.|.	.|.	.|.	.|.	.|.	497;450;497;497;497|.	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468|.	.;.;.;.;STIL_HUMAN|.	T|N	497;497;30;497;497;497;450|30	ENSP00000353544:P497T;ENSP00000337367:P497T;ENSP00000360944:P497T;ENSP00000379523:P497T;ENSP00000243182:P497T;ENSP00000411664:P450T|.	ENSP00000243182:P497T|.	P|T	-|-	1|2	0|0	STIL|STIL	47519228|47519228	0.157000|0.157000	0.22836|0.22836	0.004000|0.004000	0.12327|0.12327	0.060000|0.060000	0.15804|0.15804	0.251000|0.251000	0.18257|0.18257	0.202000|0.202000	0.20498|0.20498	0.205000|0.205000	0.17691|0.17691	CCA|ACC	STIL	-	NULL	ENSG00000123473		0.453	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2		0	67	0	G	NM_003035		47746641	-1			no_errors	ENST00000371877	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.001	T	T	47746641	G	T	47746641	3	4	160	1	0	0	0	0	1	0	0	0	15329	1261	44	3	2401	3	STIL	1	47746641	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	6510142	47746641	201503980	11	40508											
GLIS1	148979	genome.wustl.edu	37	chr1	53980299	53980299	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcctggtgtacataccCatcccgggtgctctcagcca	7	9	10	15	1	1	0	1	0	1	0	3	0	2	0	4	3	4	2	4	3	2	2	rs538030086		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:53980299C>T	ENST00000312233.2	-	7	1923	c.1357G>A	c.(1357-1359)Ggg>Agg	p.G453R		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TGTACATACCCATCCCGGGTG	0.637													C|||	1	0.000199681	0	0	5008	,	,		17673	0		0	False		,,,				2504	0.001																0													77	78	78					1																	53980299		2203	4300	6503	SO:0001630	splice_region_variant	0			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1358+1G>A	1.37:g.53980299C>T				Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G453R	ENST00000312233.2	37	c.1357	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613010	0.46631	.	.	ENSG00000174332	ENST00000312233	T	0.10668	2.85	4.97	4.97	0.65823	.	0.000000	0.56097	D	0.000037	T	0.11024	0.0269	L	0.34521	1.04	0.49299	D	0.999773	P	0.47350	0.894	P	0.47044	0.535	T	0.15752	-1.0426	10	0.15499	T	0.54	.	11.4508	0.50151	0.0:0.9132:0.0:0.0868	.	453	Q8NBF1	GLIS1_HUMAN	R	453	ENSP00000309653:G453R	ENSP00000309653:G453R	G	-	1	0	GLIS1	53752887	0.976000	0.34144	1.000000	0.80357	0.693000	0.40251	2.209000	0.42806	2.688000	0.91661	0.563000	0.77884	GGG	GLIS1	-	NULL	ENSG00000174332		0.637	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	-	0	81	0	C	NM_147193	Missense_Mutation	53980299	-1	tier1	-	no_errors	ENST00000312233	ensembl	human	known	74_37	missense	46.97	35	31	SNP	0.998	T	T	53980299	C	T	53980299	5	4	160	1	0	0	0	0	0	0	1	0	6471	608	21	3	521	3	GLIS1	1	53980299	Splice_Site	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	6233658	53980299	195270322	12	40509											
KANK4	163782	genome.wustl.edu	37	chr1	62718879	62718879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctgatggtccacattgcagaCgcctgcaagagaagcaatgg	12	7	12	10	1	0	3	0	1	0	2	1	4	1	3	2	2	3	3	2	2	3	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:62718879C>T	ENST00000371153.4	-	8	2920	c.2542G>A	c.(2542-2544)Gtc>Atc	p.V848I	KANK4_ENST00000354381.3_Missense_Mutation_p.V220I|KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000371150.1_Missense_Mutation_p.V204I	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	848						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						ACATTGCAGACGCCTGCAAGA	0.532																																																	0													93	90	91					1																	62718879		2203	4300	6503	SO:0001583	missense	0			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.2542G>A	1.37:g.62718879C>T	ENSP00000360195:p.Val848Ile		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V848I	ENST00000371153.4	37	c.2542	CCDS620.1	1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411316	0.62399	.	.	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.51325	0.71;0.73;0.75	4.98	3.07	0.35406	Ankyrin repeat-containing domain (4);	0.241892	0.21542	N	0.072870	T	0.41096	0.1144	N	0.20357	0.565	0.37698	D	0.924111	D;P	0.63880	0.993;0.948	P;P	0.51833	0.637;0.681	T	0.44802	-0.9304	10	0.56958	D	0.05	-16.4371	10.2222	0.43203	0.0:0.7895:0.1367:0.0739	.	220;848	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	I	848;220;204	ENSP00000360195:V848I;ENSP00000346352:V220I;ENSP00000360192:V204I	ENSP00000346352:V220I	V	-	1	0	KANK4	62491467	0.017000	0.18338	0.804000	0.32291	0.646000	0.38490	0.296000	0.19083	0.673000	0.31224	-0.136000	0.14681	GTC	KANK4	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000132854		0.532	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	-	0	52	0	C	NM_181712		62718879	-1	tier1	-	no_errors	ENST00000371153	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.930	T	T	62718879	C	T	62718879	3	4	160	1	0	0	0	0	1	0	0	0	8006	536	19	1	457	1	KANK4	1	62718879	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	8738580	62718879	186531742	13	40510											
LEPR	3953	genome.wustl.edu	37	chr1	66102029	66102029	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaactgtggtctctctactTtcaacaacagatcttgaaaa	14	12	5	10	0	4	2	1	1	3	1	5	2	4	2	0	1	4	0	0	1	6	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:66102029T>G	ENST00000349533.6	+	20	3014	c.2829T>G	c.(2827-2829)ctT>ctG	p.L943L	LEPR_ENST00000406510.3_Silent_p.L10L	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)		TCTCTCTACTTTCAACAACAG	0.398																																																	0													148	142	144					1																	66102029		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2829T>G	1.37:g.66102029T>G			Q6FHL5	Silent	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L943	ENST00000349533.6	37	c.2829	CCDS631.1	1																																																																																			LEPR	-	NULL	ENSG00000116678		0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	-	0	53	0	T	NM_002303		66102029	1	tier1	-	no_errors	ENST00000349533	ensembl	human	known	74_37	silent	20.83	38	10	SNP	0.000	G	G	66102029	T	G	66102029	2	3	160	1	0	0	0	0	0	0	0	1	8756	1828	64	4		4	LEPR	1	66102029	Silent	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	3383150	66102029	183148592	14	40511											
COL24A1	255631	genome.wustl.edu	37	chr1	86591748	86591748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattttcacgaaaggtgtctCgatataagcatcatttttaa	14	15	6	6	2	3	0	2	0	1	0	4	2	3	0	0	1	1	1	0	1	5	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:86591748C>T	ENST00000370571.2	-	3	637	c.271G>A	c.(271-273)Gag>Aag	p.E91K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E91K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	91					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAAGGTGTCTCGATATAAGCA	0.428																																																	0													62	58	59					1																	86591748		1852	4094	5946	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.271G>A	1.37:g.86591748C>T	ENSP00000359603:p.Glu91Lys		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.E91K	ENST00000370571.2	37	c.271	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	9.316	1.056829	0.19907	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02103	4.45;4.45	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.40222	N	0.001154	T	0.03959	0.0111	L	0.55990	1.75	0.50467	D	0.999875	D;P	0.64830	0.994;0.906	P;B	0.53313	0.723;0.154	T	0.56092	-0.8036	10	0.39692	T	0.17	.	19.0718	0.93140	0.0:1.0:0.0:0.0	.	91;91	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	91	ENSP00000359603:E91K;ENSP00000392531:E91K	ENSP00000359603:E91K	E	-	1	0	COL24A1	86364336	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.642000	0.67888	2.751000	0.94390	0.655000	0.94253	GAG	COL24A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000171502		0.428	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	-	0	33	0	C	NM_152890		86591748	-1	tier1	-	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	T	T	86591748	C	T	86591748	3	4	160	1	0	0	0	0	1	0	0	0	3690	893	31	1	5105	1	COL24A1	1	86591748	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	20489719	86591748	162658873	15	40512											
RBMXL1	494115	genome.wustl.edu	37	chr1	89449059	89449059	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttcttggtggtggtcctcTttttactgggagtggtcccc	3	16	12	10	0	2	0	0	0	2	0	4	1	4	1	3	5	1	0	3	5	1	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:89449059T>A	ENST00000321792.5	-	2	878	c.451A>T	c.(451-453)Aga>Tga	p.R151*	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'UTR|RBMXL1_ENST00000399794.2_Nonsense_Mutation_p.R151*|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	151					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GGTGGTCCTCTTTTTACTGGG	0.512																																																	0													142	151	148					1																	89449059		2203	4300	6503	SO:0001587	stop_gained	0			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.451A>T	1.37:g.89449059T>A	ENSP00000318415:p.Arg151*			Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R151*	ENST00000321792.5	37	c.451	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	T	38	7.208758	0.98136	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	.	.	.	1.76	0.348	0.16026	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6438	4.7599	0.13102	0.2777:0.0:0.0:0.7222	.	.	.	.	X	151	.	ENSP00000318415:R151X	R	-	1	2	RBMXL1	89221647	1.000000	0.71417	0.772000	0.31596	0.948000	0.59901	1.301000	0.33447	-0.068000	0.12953	0.254000	0.18369	AGA	RBMXL1	-	NULL	ENSG00000213516		0.512	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	-	0	63	0	T	NM_019610		89449059	-1	tier1	-	no_errors	ENST00000321792	ensembl	human	known	74_37	nonsense	12.36	78	11	SNP	1.000	A	A	89449059	T	A	89449059	4	1	160	1	0	0	0	0	0	1	0	0	13198	1617	56	5	725	5	RBMXL1	1	89449059	Nonsense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	2857311	89449059	159801562	16	40513											
DPH5	51611	genome.wustl.edu	37	chr1	101456100	101456100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctcccaagtccacagtgCacatttgccttaaagtgcct	9	12	7	13	0	1	0	0	0	1	0	3	0	2	0	4	0	3	2	4	0	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:101456100C>T	ENST00000370109.3	-	8	834	c.722G>A	c.(721-723)tGc>tAc	p.C241Y	DPH5_ENST00000427040.2_Missense_Mutation_p.C2Y|AC093157.1_ENST00000593496.1_Missense_Mutation_p.H32Y|DPH5_ENST00000488176.1_Missense_Mutation_p.C241Y|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.C240Y	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	241					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)		GTCCACAGTGCACATTTGCCT	0.458																																																	0													128	124	126					1																	101456100		2032	4197	6229	SO:0001583	missense	0			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.722G>A	1.37:g.101456100C>T	ENSP00000359127:p.Cys241Tyr		A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	p.C241Y	ENST00000370109.3	37	c.722	CCDS41358.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490350	0.44249	.	.	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000427040;ENST00000342173;ENST00000488176	.	.	.	5.85	3.9	0.45041	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (1);	0.578547	0.20458	N	0.091957	T	0.36744	0.0978	L	0.47190	1.495	0.24415	N	0.994646	B;B	0.23442	0.085;0.085	B;B	0.35182	0.197;0.197	T	0.46470	-0.9189	9	0.59425	D	0.04	-11.4588	15.5314	0.75964	0.0:0.5697:0.4303:0.0	.	241;240	Q9H2P9;A8JZY6	DPH5_HUMAN;.	Y	241;240;190;2;240;241	.	ENSP00000339630:C240Y	C	-	2	0	DPH5	101228688	0.978000	0.34361	0.901000	0.35422	0.881000	0.50899	2.594000	0.46189	1.468000	0.48064	0.655000	0.94253	TGC	DPH5	-	superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	ENSG00000117543		0.458	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPH5	HGNC	protein_coding	OTTHUMT00000029881.1	-	0	53	0	C	NM_015958		101456100	-1	tier1	-	no_errors	ENST00000370109	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.701	T	T	101456100	C	T	101456100	3	4	160	1	0	0	0	0	1	0	0	0	4737	710	25	3	139	3	DPH5	1	101456100	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	12007041	101456100	147794521	17	40514											
LCE2C	353140	genome.wustl.edu	37	chr1	152648726	152648726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagccaccacaggcccCgtctcttccaccggcgccgg	5	5	10	21	4	1	1	0	1	1	0	3	1	2	1	8	3	1	0	8	3	0	1	rs535714518		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:152648726C>T	ENST00000368783.1	+	2	290	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	79	Cys-rich.				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)			CCACAGGCCCCGTCTCTTCCA	0.682																																																	0													43	52	49					1																	152648726		2202	4299	6501	SO:0001583	missense	0				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.235C>T	1.37:g.152648726C>T	ENSP00000357772:p.Arg79Cys			Missense_Mutation	SNP	NULL	p.R79C	ENST00000368783.1	37	c.235	CCDS1019.1	1	.	.	.	.	.	.	.	.	.	.	C	8.128	0.782340	0.16189	.	.	ENSG00000187180	ENST00000368783	T	0.04406	3.63	2.59	0.469	0.16741	.	.	.	.	.	T	0.01523	0.0049	L	0.49778	1.585	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45425	-0.9262	9	0.87932	D	0	.	2.6277	0.04934	0.2787:0.5447:0.0:0.1766	.	79	Q5TA81	LCE2C_HUMAN	C	79	ENSP00000357772:R79C	ENSP00000357772:R79C	R	+	1	0	LCE2C	150915350	0.000000	0.05858	0.010000	0.14722	0.409000	0.31022	0.572000	0.23684	0.120000	0.18254	0.563000	0.77884	CGT	LCE2C	-	NULL	ENSG00000187180		0.682	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2C	HGNC	protein_coding	OTTHUMT00000034509.1	-	0	131	0	C	NM_178429		152648726	1	tier1	-	no_errors	ENST00000368783	ensembl	human	known	74_37	missense	8.55	107	10	SNP	0.010	T	T	152648726	C	T	152648726	3	4	160	1	0	0	0	0	1	0	0	0	8695	652	23	1	237	1	LCE2C	1	152648726	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	51192626	152648726	96601895	18	40515											
IVL	3713	genome.wustl.edu	37	chr1	152883117	152883117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tcccagaggagcagatggggCagctgaagtacctggaacag	12	5	15	9	0	0	3	0	1	0	2	1	5	1	5	2	4	4	4	2	4	3	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:152883117C>A	ENST00000368764.3	+	2	908	c.844C>A	c.(844-846)Cag>Aag	p.Q282K	IVL_ENST00000392667.2_Missense_Mutation_p.Q136K			P07476	INVO_HUMAN	involucrin	282	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGATGGGGCAGCTGAAGTA	0.637																																																	0													17	16	17					1																	152883117		2047	4020	6067	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.844C>A	1.37:g.152883117C>A	ENSP00000357753:p.Gln282Lys		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q282K	ENST00000368764.3	37	c.844	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.577149	0.00887	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10573	3.12;2.86	2.28	-1.2	0.09554	.	.	.	.	.	T	0.02688	0.0081	L	0.53249	1.67	0.09310	N	1	B	0.17465	0.022	B	0.27170	0.077	T	0.49041	-0.8980	9	0.07030	T	0.85	.	9.348	0.38120	0.2908:0.7092:0.0:0.0	.	282	P07476	INVO_HUMAN	K	282;136	ENSP00000357753:Q282K;ENSP00000376435:Q136K	ENSP00000357753:Q282K	Q	+	1	0	IVL	151149741	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.067000	0.14510	-0.498000	0.06632	0.194000	0.17425	CAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.637	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0	201	0	C	NM_005547		152883117	1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	32.04	122	58	SNP	0.000	A	A	152883117	C	A	152883117	3	1	160	1	0	0	0	0	1	0	0	0	7956	711	25	3	846	3	IVL	1	152883117	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	234391	152883117	96367504	19	40516											
NPR1	4881	genome.wustl.edu	37	chr1	153661440	153661440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccccagggagaacagcaGcaacatcctggacaacctgc	12	4	10	15	0	0	1	0	0	0	1	1	3	1	2	4	2	7	2	4	2	3	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:153661440G>T	ENST00000368680.3	+	16	2901	c.2429G>T	c.(2428-2430)aGc>aTc	p.S810I		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	810					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)	GAGAACAGCAGCAACATCCTG	0.642																																					Pancreas(141;1349 1870 15144 15830 40702)												0													102	90	94					1																	153661440		2203	4300	6503	SO:0001583	missense	0			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.2429G>T	1.37:g.153661440G>T	ENSP00000357669:p.Ser810Ile		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.S810I	ENST00000368680.3	37	c.2429	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536123	0.45176	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.62232	0.04	3.35	3.35	0.38373	Protein kinase-like domain (1);	0.461027	0.21747	N	0.069735	T	0.38374	0.1038	L	0.52266	1.64	0.80722	D	1	B;B	0.32543	0.375;0.066	B;B	0.31869	0.137;0.029	T	0.42207	-0.9465	10	0.38643	T	0.18	.	8.8433	0.35155	0.0:0.2308:0.7692:0.0	.	289;810	B7Z4Y7;P16066	.;ANPRA_HUMAN	I	810;289	ENSP00000357669:S810I	ENSP00000357669:S810I	S	+	2	0	NPR1	151928064	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.043000	0.30316	2.170000	0.68504	0.455000	0.32223	AGC	NPR1	-	superfamily_Kinase-like_dom	ENSG00000169418		0.642	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	-	0	74	0	G	NM_000906		153661440	1	tier1	-	no_errors	ENST00000368680	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	153661440	G	T	153661440	3	4	160	1	0	0	0	0	1	0	0	0	10633	971	34	3	2491	3	NPR1	1	153661440	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	778323	153661440	95589181	20	40517											
TDRD10	126668	genome.wustl.edu	37	chr1	154517281	154517281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctgccaggtgttgggtgCtggacagggtggacacctgg	5	9	17	10	0	1	0	0	0	1	0	1	2	1	2	3	6	2	2	3	6	0	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:154517281C>T	ENST00000368480.3	+	11	893	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	TDRD10_ENST00000368482.4_Silent_p.L270L|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	270	Tudor.						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)			GTGTTGGGTGCTGGACAGGGT	0.537																																																	0													195	174	181					1																	154517281		2203	4300	6503	SO:0001819	synonymous_variant	0			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.808C>T	1.37:g.154517281C>T			A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L270	ENST00000368480.3	37	c.808	CCDS41406.1	1																																																																																			TDRD10	-	pfam_Tudor	ENSG00000163239		0.537	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	-	0	51	0	C	NM_182499		154517281	1	tier1	-	no_errors	ENST00000368480	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.524	T	T	154517281	C	T	154517281	2	4	160	1	0	0	0	0	0	0	0	1	15778	796	28	3		3	TDRD10	1	154517281	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	855841	154517281	94733340	21	40518											
ZBTB7B	51043	genome.wustl.edu	37	chr1	154987149	154987149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagaagatggggagccccGaggatgacctgattgggatt	11	7	17	6	1	0	4	0	2	0	2	0	9	0	7	3	5	1	0	3	5	1	2	rs376255260		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:154987149G>A	ENST00000368426.3	+	3	150	c.13G>A	c.(13-15)Gag>Aag	p.E5K	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E5K|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E39K|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E5K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	5					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)			GGGGAGCCCCGAGGATGACCT	0.567																																																	0													44	49	47					1																	154987149		2203	4300	6503	SO:0001583	missense	0			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.13G>A	1.37:g.154987149G>A	ENSP00000357411:p.Glu5Lys		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E39K	ENST00000368426.3	37	c.115	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381092	0.61845	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.09255	3.02;3.02;3.0;3.02	3.59	3.59	0.41128	.	0.000000	0.64402	D	0.000001	T	0.12092	0.0294	L	0.39397	1.21	0.41127	D	0.985859	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.61003	0.882;0.768;0.882	T	0.02026	-1.1227	10	0.59425	D	0.04	.	12.7145	0.57107	0.0:0.0:1.0:0.0	.	5;5;39	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	K	5;5;39;5	ENSP00000438647:E5K;ENSP00000357411:E5K;ENSP00000406286:E39K;ENSP00000292176:E5K	ENSP00000292176:E5K	E	+	1	0	ZBTB7B	153253773	0.998000	0.40836	0.997000	0.53966	0.987000	0.75469	2.800000	0.47900	1.827000	0.53221	0.462000	0.41574	GAG	ZBTB7B	-	NULL	ENSG00000160685		0.567	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	-	0	54	0	G	NM_015872		154987149	1	tier1	-	no_errors	ENST00000417934	ensembl	human	known	74_37	missense	8.06	57	5	SNP	1.000	A	A	154987149	G	A	154987149	3	1	160	1	0	0	0	0	1	0	0	0	17602	1059	37	1	15	1	ZBTB7B	1	154987149	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	469868	154987149	94263472	22	40519											
HCN3	57657	genome.wustl.edu	37	chr1	155255005	155255005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccacaagctgccagcagacaCgcggcagcgcatccacgagt	11	3	11	16	4	0	1	0	0	0	1	1	2	1	1	3	1	4	4	3	1	1	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:155255005C>T	ENST00000368358.3	+	5	1147	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	380					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCAGCAGACACGCGGCAGCGC	0.602																																																	0													75	67	70					1																	155255005		2203	4300	6503	SO:0001583	missense	0			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1139C>T	1.37:g.155255005C>T	ENSP00000357342:p.Thr380Met		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.T380M	ENST00000368358.3	37	c.1139	CCDS1108.1	1	.	.	.	.	.	.	.	.	.	.	C	9.060	0.994297	0.19043	.	.	ENSG00000143630	ENST00000368358	D	0.96651	-4.08	5.21	4.28	0.50868	Cyclic nucleotide-binding-like (1);	0.000000	0.52532	D	0.000062	T	0.80706	0.4674	N	0.02916	-0.46	0.41120	D	0.985803	B;B	0.31459	0.324;0.039	B;B	0.23419	0.046;0.007	T	0.81243	-0.1021	10	0.21540	T	0.41	.	11.1233	0.48304	0.0:0.9095:0.0:0.0905	.	75;380	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	M	380	ENSP00000357342:T380M	ENSP00000357342:T380M	T	+	2	0	HCN3	153521629	0.898000	0.30612	0.952000	0.39060	0.989000	0.77384	1.517000	0.35867	2.590000	0.87494	0.563000	0.77884	ACG	HCN3	-	superfamily_cNMP-bd-like	ENSG00000143630		0.602	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1	-	0	128	0	C	NM_020897		155255005	1	tier1	-	no_errors	ENST00000368358	ensembl	human	known	74_37	missense	7.50	74	6	SNP	0.992	T	T	155255005	C	T	155255005	3	4	160	1	0	0	0	0	1	0	0	0	7025	536	19	1	1157	1	HCN3	1	155255005	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	267856	155255005	93995616	23	40520											
FDPS	2224	genome.wustl.edu	37	chr1	155288467	155288467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgcttagagttcctatcaGactgagattgggcagaccct	9	12	10	10	0	1	4	1	1	0	4	2	5	2	4	2	1	1	3	2	1	2	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:155288467G>A	ENST00000356657.6	+	7	858	c.696G>A	c.(694-696)caG>caA	p.Q232Q	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000447866.1_Silent_p.Q166Q|FDPS_ENST00000368356.4_Silent_p.Q232Q	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	232					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GTTCCTATCAGACTGAGATTG	0.542																																																	0													62	61	61					1																	155288467		2203	4300	6503	SO:0001819	synonymous_variant	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.696G>A	1.37:g.155288467G>A			D3DV91|E9PCI9|Q96G29	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.Q232	ENST00000356657.6	37	c.696	CCDS1110.1	1																																																																																			FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	ENSG00000160752		0.542	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	-	0	78	0	G	NM_002004		155288467	1	tier1	-	no_errors	ENST00000356657	ensembl	human	known	74_37	silent	13.16	66	10	SNP	1.000	A	A	155288467	G	A	155288467	2	1	160	1	0	0	0	0	0	0	0	1	5825	933	33	3		3	FDPS	1	155288467	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	33462	155288467	93962154	24	40521											
OR10K2	391107	genome.wustl.edu	37	chr1	158390342	158390342	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgagagcagccaaggaaGaggaaggaaaacatttggat	17	5	15	4	0	0	2	0	1	0	2	0	8	0	6	1	4	3	1	1	4	5	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:158390342G>A	ENST00000314902.2	-	1	314	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGCCAAGGAAGAGGAAGGAAA	0.493																																																	0													179	177	177					1																	158390342		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.315C>T	1.37:g.158390342G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L105	ENST00000314902.2	37	c.315	CCDS30896.1	1																																																																																			OR10K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180708		0.493	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	-	0	53	0	G	NM_001004476		158390342	-1	tier1	-	no_errors	ENST00000314902	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.001	A	A	158390342	G	A	158390342	2	1	160	1	0	0	0	0	0	0	0	1	10953	929	33	3		3	OR10K2	1	158390342	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	3101875	158390342	90860279	25	40522											
OR10Z1	128368	genome.wustl.edu	37	chr1	158576411	158576411	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacacccccatgtacctCttcctttccttcctatcctt	5	15	2	19	0	1	0	0	0	1	0	5	0	5	0	7	0	2	2	7	0	2	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:158576411C>A	ENST00000361284.1	+	1	183	c.183C>A	c.(181-183)ctC>ctA	p.L61L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	61						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)					CCATGTACCTCTTCCTTTCCT	0.512																																																	0													253	246	248					1																	158576411		2203	4300	6503	SO:0001819	synonymous_variant	0			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.183C>A	1.37:g.158576411C>A			Q5VYL0|Q6IFR7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L61	ENST00000361284.1	37	c.183	CCDS30901.1	1																																																																																			OR10Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198967		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0	87	0	C	NM_001004478		158576411	1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	silent	10.19	97	11	SNP	0.775	A	A	158576411	C	A	158576411	2	1	160	1	0	0	0	0	0	0	0	1	10962	900	32	3		3	OR10Z1	1	158576411	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	186069	158576411	90674210	26	40523											
FCRL6	343413	genome.wustl.edu	37	chr1	159785374	159785374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgcctgcagcccagtgagGtttcatccacggaggtgaat	9	9	13	10	1	1	2	1	2	0	0	2	4	2	3	3	3	3	2	3	3	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:159785374G>T	ENST00000368106.3	+	10	1229	c.1228G>T	c.(1228-1230)Gtt>Ttt	p.V410F	FCRL6_ENST00000392235.3_3'UTR|FCRL6_ENST00000339348.5_3'UTR|FCRL6_ENST00000321935.6_3'UTR	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	410						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)					GCCCAGTGAGGTTTCATCCAC	0.512																																																	0													127	125	126					1																	159785374		2203	4300	6503	SO:0001583	missense	0			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.1228G>T	1.37:g.159785374G>T	ENSP00000357086:p.Val410Phe		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V410F	ENST00000368106.3	37	c.1228	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	g	9.673	1.147218	0.21288	.	.	ENSG00000181036	ENST00000368106	T	0.01279	5.06	3.87	-7.74	0.01241	.	.	.	.	.	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.17979	0.02	T	0.46925	-0.9156	9	0.46703	T	0.11	.	1.3266	0.02126	0.4029:0.1054:0.2809:0.2108	.	410	Q6DN72	FCRL6_HUMAN	F	410	ENSP00000357086:V410F	ENSP00000357086:V410F	V	+	1	0	FCRL6	158051998	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.057000	0.03486	-2.270000	0.00683	-1.139000	0.01908	GTT	FCRL6	-	NULL	ENSG00000181036		0.512	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	-	0	40	0	G	NM_001004310		159785374	1	tier1	-	no_errors	ENST00000368106	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	T	T	159785374	G	T	159785374	3	4	160	1	0	0	0	0	1	0	0	0	5821	1261	44	3	1266	3	FCRL6	1	159785374	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1208963	159785374	89465247	27	40524											
GPR161	23432	genome.wustl.edu	37	chr1	168065938	168065938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcccaagtctccaggctcgGggagacggagcttttccccc	6	7	13	15	2	1	1	0	0	1	1	4	3	2	2	4	5	1	2	4	5	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:168065938G>A	ENST00000367838.1	-	5	1220	c.907C>T	c.(907-909)Ccg>Tcg	p.P303S	GPR161_ENST00000537209.1_Missense_Mutation_p.P323S|GPR161_ENST00000546300.1_Missense_Mutation_p.P189S|GPR161_ENST00000361697.2_Missense_Mutation_p.P303S|GPR161_ENST00000367835.1_Missense_Mutation_p.P303S|GPR161_ENST00000271357.5_Missense_Mutation_p.P303S|GPR161_ENST00000367836.1_Missense_Mutation_p.P171S|GPR161_ENST00000539777.1_Missense_Mutation_p.P225S	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	303					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)					TCCAGGCTCGGGGAGACGGAG	0.592																																																	0													57	61	60					1																	168065938		2203	4300	6503	SO:0001583	missense	0			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.907C>T	1.37:g.168065938G>A	ENSP00000356812:p.Pro303Ser		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P323S	ENST00000367838.1	37	c.967	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455258	0.43634	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.48	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.099263	0.64402	D	0.000001	T	0.41743	0.1172	L	0.41124	1.26	0.43824	D	0.996390	B;P;B;P;B;B	0.36483	0.079;0.549;0.264;0.555;0.003;0.166	B;B;B;B;B;B	0.32624	0.021;0.149;0.05;0.114;0.004;0.056	T	0.34775	-0.9815	9	0.25106	T	0.35	-30.7297	11.9152	0.52761	0.1046:0.0:0.8954:0.0	.	323;189;225;323;303;303	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	S	303;303;171;303;189;225;323;303	ENSP00000356812:P303S;ENSP00000271357:P303S;ENSP00000356810:P171S;ENSP00000356809:P303S;ENSP00000444348:P189S;ENSP00000437576:P225S;ENSP00000441039:P323S;ENSP00000355194:P303S	ENSP00000271357:P303S	P	-	1	0	GPR161	166332562	1.000000	0.71417	0.920000	0.36463	0.827000	0.46813	7.651000	0.83577	1.193000	0.43086	0.561000	0.74099	CCG	GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000143147		0.592	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	-	0	34	0	G	NM_007369		168065938	-1	tier1	-	no_errors	ENST00000537209	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.998	A	A	168065938	G	A	168065938	3	1	160	1	0	0	0	0	1	0	0	0	6691	1232	43	3	698	3	GPR161	1	168065938	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	8280564	168065938	81184683	28	40525											
ASTN1	460	genome.wustl.edu	37	chr1	176983980	176983980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcttatgtactggatcCttcatgtagccttcatagca	9	14	9	9	0	2	0	2	0	0	0	3	1	3	1	2	2	4	4	2	2	4	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:176983980C>A	ENST00000367654.3	-	8	1705	c.1494G>T	c.(1492-1494)aaG>aaT	p.K498N	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.K490N|ASTN1_ENST00000361833.2_Missense_Mutation_p.K490N|ASTN1_ENST00000367657.3_Missense_Mutation_p.K490N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	498	EGF-like 1.				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						GTACTGGATCCTTCATGTAGC	0.458																																																	0													417	361	380					1																	176983980		2203	4300	6503	SO:0001583	missense	0			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.1494G>T	1.37:g.176983980C>A	ENSP00000356626:p.Lys498Asn		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.K498N	ENST00000367654.3	37	c.1494		1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667164	0.67814	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;T;D	0.87412	-2.25;-2.25;2.84;-2.25	5.67	4.75	0.60458	Epidermal growth factor-like (1);	0.045667	0.85682	D	0.000000	T	0.81336	0.4801	N	0.19112	0.55	0.80722	D	1	P;P;P	0.46142	0.873;0.59;0.59	P;B;B	0.44359	0.447;0.354;0.354	D	0.84082	0.0385	10	0.62326	D	0.03	-33.3834	14.7047	0.69179	0.0:0.9285:0.0:0.0715	.	498;490;490	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	490;490;498;490;490	ENSP00000356629:K490N;ENSP00000354536:K490N;ENSP00000356626:K498N;ENSP00000395041:K490N	ENSP00000354536:K490N	K	-	3	2	ASTN1	175250603	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.244000	0.32778	2.677000	0.91161	0.561000	0.74099	AAG	ASTN1	-	smart_EG-like_dom	ENSG00000152092		0.458	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0	57	0	C	NM_004319		176983980	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	A	A	176983980	C	A	176983980	3	1	160	1	0	0	0	0	1	0	0	0	1065	680	24	3	2482	3	ASTN1	1	176983980	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	8918042	176983980	72266641	29	40526											
HMCN1	83872	genome.wustl.edu	37	chr1	186088917	186088917	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaccaagtgaactacacgtCattctgaacaatcctatttt	14	12	4	11	1	2	2	1	2	1	0	3	2	3	2	2	0	4	0	2	0	7	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:186088917C>G	ENST00000271588.4	+	79	12226	c.11997C>G	c.(11995-11997)gtC>gtG	p.V3999V	HMCN1_ENST00000367492.2_Silent_p.V3999V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3999	Ig-like C2-type 39.				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						AACTACACGTCATTCTGAACA	0.373																																																	0													97	90	93					1																	186088917		2203	4300	6503	SO:0001819	synonymous_variant	0			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.11997C>G	1.37:g.186088917C>G			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.V3999	ENST00000271588.4	37	c.11997	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143341		0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	53	0	C	NM_031935		186088917	1			no_errors	ENST00000271588	ensembl	human	known	74_37	silent	7.32	76	6	SNP	1.000	G	G	186088917	C	G	186088917	2	3	160	1	0	0	0	0	0	0	0	1	7247	813	29	5		5	HMCN1	1	186088917	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	9104937	186088917	63161704	30	40527											
HMCN1	83872	genome.wustl.edu	37	chr1	186097328	186097328	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttcctggagacgtgtCattaaataaaggagaacagc	15	9	10	7	1	1	3	1	1	0	2	2	5	2	3	1	2	3	0	1	2	6	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:186097328C>A	ENST00000271588.4	+	83	13038	c.12809C>A	c.(12808-12810)tCa>tAa	p.S4270*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S4270*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4270	Ig-like C2-type 42.				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.S4270*(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						GGAGACGTGTCATTAAATAAA	0.413																																																	1	Substitution - Nonsense(1)	large_intestine(1)											117	105	109					1																	186097328		2203	4300	6503	SO:0001587	stop_gained	0			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.12809C>A	1.37:g.186097328C>A	ENSP00000271588:p.Ser4270*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.S4270*	ENST00000271588.4	37	c.12809	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	55	24.041056	0.99958	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.36	5.36	0.76844	.	0.171002	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3837	0.60783	0.0:0.9244:0.0:0.0756	.	.	.	.	X	4270	.	ENSP00000271588:S4270X	S	+	2	0	HMCN1	184363951	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.757000	0.68766	2.502000	0.84385	0.585000	0.79938	TCA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143341		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	59	0	C	NM_031935		186097328	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	nonsense	17.65	70	15	SNP	1.000	A	A	186097328	C	A	186097328	4	1	160	1	0	0	0	0	0	1	0	0	7247	838	29	3	13139	3	HMCN1	1	186097328	Nonsense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	8411	186097328	63153293	31	40528											
DENND1B	163486	genome.wustl.edu	37	chr1	197611873	197611873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgagataatcacgatgcGcctttcatgcagcatactgg	10	10	10	11	3	2	1	2	0	0	1	3	3	2	1	1	1	4	3	1	1	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:197611873G>T	ENST00000367396.3	-	10	809	c.640C>A	c.(640-642)Cgc>Agc	p.R214S	DENND1B_ENST00000235453.4_Missense_Mutation_p.R184S|DENND1B_ENST00000400967.2_Missense_Mutation_p.R184S	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	214	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						ATCACGATGCGCCTTTCATGC	0.378																																																	0													87	79	82					1																	197611873		1961	4209	6170	SO:0001583	missense	0			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"DENN/MADD domain containing"	28404	protein-coding gene	gene with protein product		613292	"family with sequence similarity 31, member B", "chromosome 1 open reading frame 218"	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.640C>A	1.37:g.197611873G>T	ENSP00000356366:p.Arg214Ser		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R214S	ENST00000367396.3	37	c.640	CCDS41452.2	1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283802	0.59867	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	T;T;T	0.18960	2.18;2.18;2.18	4.46	4.46	0.54185	DENN (3);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	M	0.85373	2.75	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.58595	-0.7609	10	0.87932	D	0	-13.2398	14.052	0.64742	0.0:0.0:0.8487:0.1512	.	214;194;214;184	Q6P3S1-5;Q6P3S1-3;Q6P3S1;Q6P3S1-4	.;.;DEN1B_HUMAN;.	S	214;194;184;214;184	ENSP00000235453:R184S;ENSP00000356366:R214S;ENSP00000383751:R184S	ENSP00000235453:R184S	R	-	1	0	DENND1B	195878496	1.000000	0.71417	0.990000	0.47175	0.347000	0.29111	7.510000	0.81708	2.188000	0.69820	0.650000	0.86243	CGC	DENND1B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000213047		0.378	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1B	HGNC	protein_coding	OTTHUMT00000086539.1		0	54	0	G	NM_144977		197611873	-1			no_errors	ENST00000367396	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	197611873	G	T	197611873	3	4	160	1	0	0	0	0	1	0	0	0	4441	1087	38	2	1784	2	DENND1B	1	197611873	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	11514545	197611873	51638748	32	40529											
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200817241	200817241	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactccaaaccgaggaatCactcgttctattagtaatga	13	11	6	11	2	2	1	1	1	1	0	5	3	4	2	3	1	1	2	3	1	5	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:200817241C>A	ENST00000236925.4	+	12	1426	c.1377C>A	c.(1375-1377)atC>atA	p.I459I	CAMSAP2_ENST00000413307.2_Silent_p.I432I|CAMSAP2_ENST00000358823.2_Silent_p.I448I			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	459					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ACCGAGGAATCACTCGTTCTA	0.348																																																	0													75	77	76					1																	200817241		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1377C>A	1.37:g.200817241C>A			B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.I459	ENST00000236925.4	37	c.1377		1																																																																																			CAMSAP2	-	NULL	ENSG00000118200		0.348	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	-	0	54	0	C	NM_203459		200817241	1	tier1	-	no_errors	ENST00000236925	ensembl	human	known	74_37	silent	8.62	53	5	SNP	0.377	A	A	200817241	C	A	200817241	2	1	160	1	0	0	0	0	0	0	0	1	2619	816	29	3		3	CAMSAP1L1	1	200817241	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	3205368	200817241	48433380	33	40530											
KDM5B	10765	genome.wustl.edu	37	chr1	202710527	202710527	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agactcttggctttgtcgtcCcagtgctctgacactgtgag	6	13	11	11	1	2	3	0	2	2	1	4	3	3	3	1	1	1	2	1	1	0	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:202710527C>G	ENST00000367265.3	-	19	4077	c.2913G>C	c.(2911-2913)tgG>tgC	p.W971C	KDM5B_ENST00000367264.2_Missense_Mutation_p.W1007C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	971					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						CTTTGTCGTCCCAGTGCTCTG	0.527																																																	0													50	52	51					1																	202710527		2203	4300	6503	SO:0001583	missense	0			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.2913G>C	1.37:g.202710527C>G	ENSP00000356234:p.Trp971Cys		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.W1007C	ENST00000367265.3	37	c.3021	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638708	0.87760	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.64803	-0.12;-0.12;-0.12	5.95	5.95	0.96441	Lysine-specific demethylase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81711	0.4880	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.957;0.995	T	0.82631	-0.0362	10	0.87932	D	0	-14.4901	20.3789	0.98926	0.0:1.0:0.0:0.0	.	1007;971	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	971;813;1007;813	ENSP00000356234:W971C;ENSP00000356233:W1007C;ENSP00000235790:W813C	ENSP00000235790:W813C	W	-	3	0	KDM5B	200977150	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.826000	0.97356	0.563000	0.77884	TGG	KDM5B	-	pfam_Lys_sp_deMease_like_dom	ENSG00000117139		0.527	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	-	0	79	0	C	NM_006618		202710527	-1	tier1	-	no_errors	ENST00000367264	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	G	G	202710527	C	G	202710527	3	3	160	1	0	0	0	0	1	0	0	0	8161	624	22	5	1757	5	KDM5B	1	202710527	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1893286	202710527	46540094	34	40531											
ATP2B4	493	genome.wustl.edu	37	chr1	203690434	203690434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatctctgttgaagcggcGcccctatggccgaaataagc	10	8	12	11	3	1	1	0	1	1	0	2	3	1	2	3	3	2	1	3	3	5	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:203690434G>A	ENST00000357681.5	+	17	3831	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H	ATP2B4_ENST00000367218.3_Missense_Mutation_p.R903H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R891H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R903H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R903H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	903					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)			TTGAAGCGGCGCCCCTATGGC	0.478																																																	0													107	101	103					1																	203690434		2203	4300	6503	SO:0001583	missense	0			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.2708G>A	1.37:g.203690434G>A	ENSP00000350310:p.Arg903His		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.R903H	ENST00000357681.5	37	c.2708	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077376	0.76415	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.0	4.07	0.47477	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.52532	D	0.000074	D	0.95392	0.8504	L	0.41824	1.3	0.35931	D	0.832511	B;B;D	0.89917	0.162;0.155;1.0	B;B;D	0.83275	0.053;0.041;0.996	D	0.95717	0.8763	10	0.87932	D	0	-17.0649	7.2683	0.26242	0.2808:0.0:0.7192:0.0	.	903;903;903	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	H	903;903;891;903;903	ENSP00000350310:R903H;ENSP00000356187:R903H;ENSP00000356188:R891H;ENSP00000375816:R903H;ENSP00000340930:R903H	ENSP00000340930:R903H	R	+	2	0	ATP2B4	201957057	0.679000	0.27596	0.991000	0.47740	0.957000	0.61999	1.457000	0.35212	2.331000	0.79229	0.655000	0.94253	CGC	ATP2B4	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000058668		0.478	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1		0	69	0	G	NM_001001396		203690434	1			no_errors	ENST00000357681	ensembl	human	known	74_37	missense	8.33	54	5	SNP	0.986	A	A	203690434	G	A	203690434	3	1	160	1	0	0	0	0	1	0	0	0	1143	1087	38	1	2770	1	ATP2B4	1	203690434	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	979907	203690434	45560187	35	40532											
KCNH1	3756	genome.wustl.edu	37	chr1	210948725	210948725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacgtcagaatcaggttccGggagaaggaatgggagaagg	13	6	17	5	2	2	3	2	0	0	3	3	6	3	4	1	5	1	2	1	5	5	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:210948725G>A	ENST00000271751.4	-	10	2104	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	KCNH1_ENST00000367007.4_Missense_Mutation_p.R666W			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	693	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)		ATCAGGTTCCGGGAGAAGGAA	0.463																																																	0													89	83	85					1																	210948725		2203	4300	6503	SO:0001583	missense	0			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.2077C>T	1.37:g.210948725G>A	ENSP00000271751:p.Arg693Trp		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R693W	ENST00000271751.4	37	c.2077	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783167	0.70222	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96992	-4.2;-4.2	5.36	0.703	0.18116	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.098306	0.64402	D	0.000003	D	0.97393	0.9147	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.955;0.959	D	0.96857	0.9629	10	0.62326	D	0.03	.	14.9061	0.70721	0.0:0.0:0.228:0.772	.	666;693	Q14CL3;O95259	.;KCNH1_HUMAN	W	693;666	ENSP00000271751:R693W;ENSP00000355974:R666W	ENSP00000271751:R693W	R	-	1	2	KCNH1	209015348	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.831000	0.39141	0.205000	0.20568	0.555000	0.69702	CGG	KCNH1	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG	ENSG00000143473		0.463	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	-	0	78	0	G	NM_002238		210948725	-1	tier1	-	no_errors	ENST00000271751	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	A	A	210948725	G	A	210948725	3	1	160	1	0	0	0	0	1	0	0	0	8058	1115	39	1	900	1	KCNH1	1	210948725	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	7258291	210948725	38301896	36	40533											
USH2A	7399	genome.wustl.edu	37	chr1	216369967	216369967	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatgtcataccccacaacTtttcctcttgtaacattatc	10	16	3	12	0	2	1	1	1	1	0	4	1	3	1	3	0	3	1	3	0	4	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:216369967T>G	ENST00000307340.3	-	19	4565	c.4179A>C	c.(4177-4179)aaA>aaC	p.K1393N	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.K1393N|USH2A_ENST00000366943.2_Missense_Mutation_p.K1393N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1393	Fibronectin type-III 4. {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)		ACCCCACAACTTTTCCTCTTG	0.408										HNSCC(13;0.011)																																							0													190	173	179					1																	216369967		2203	4300	6503	SO:0001583	missense	0			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.4179A>C	1.37:g.216369967T>G	ENSP00000305941:p.Lys1393Asn		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.K1393N	ENST00000307340.3	37	c.4179	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.049686	0.36181	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.57752	0.38;0.38;0.38	5.96	0.798	0.18660	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.502303	0.16644	N	0.205483	T	0.35770	0.0943	L	0.40543	1.245	0.24173	N	0.995612	B;B	0.27625	0.005;0.183	B;B	0.31495	0.005;0.131	T	0.19289	-1.0310	10	0.19590	T	0.45	.	2.5642	0.04779	0.1215:0.1325:0.127:0.6191	.	1393;1393	O75445-2;O75445	.;USH2A_HUMAN	N	1393	ENSP00000305941:K1393N;ENSP00000355910:K1393N;ENSP00000355909:K1393N	ENSP00000305941:K1393N	K	-	3	2	USH2A	214436590	1.000000	0.71417	0.288000	0.24862	0.997000	0.91878	0.902000	0.28459	-0.111000	0.12001	0.533000	0.62120	AAA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	75	0	T	NM_007123		216369967	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	11.67	53	7	SNP	1.000	G	G	216369967	T	G	216369967	3	3	160	1	0	0	0	0	1	0	0	0	17085	1606	56	4	11659	4	USH2A	1	216369967	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	5421242	216369967	32880654	37	40534											
GREM2	64388	genome.wustl.edu	37	chr1	240656362	240656362	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaagggtgggtccaggccGgggcactcgagctccacgag	7	4	18	12	4	0	0	0	0	0	0	3	3	2	1	3	6	1	2	3	6	1	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:240656362G>A	ENST00000318160.4	-	2	680	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	138	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GGTCCAGGCCGGGGCACTCGA	0.637																																																	0													57	61	59					1																	240656362		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"protein related to DAN and cerberus"	608832	"gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)", "gremlin 2"			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.414C>T	1.37:g.240656362G>A			Q86UD9	Silent	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	p.P138	ENST00000318160.4	37	c.414	CCDS31070.1	1																																																																																			GREM2	-	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	ENSG00000180875		0.637	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM2	HGNC	protein_coding	OTTHUMT00000096286.1	-	0	60	0	G	NM_022469		240656362	-1	tier1	-	no_errors	ENST00000318160	ensembl	human	known	74_37	silent	12.90	54	8	SNP	0.829	A	A	240656362	G	A	240656362	2	1	160	1	0	0	0	0	0	0	0	1	6789	1103	39	1		1	GREM2	1	240656362	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	24286395	240656362	8594259	38	40535											
KIF26B	55083	genome.wustl.edu	37	chr1	245850994	245850994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgggtgcagcctcgggcaCcccgccctccaaggctaccc	5	5	13	18	2	0	0	0	0	0	0	2	0	1	0	6	4	3	3	6	4	2	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:245850994C>T	ENST00000407071.2	+	12	5149	c.4709C>T	c.(4708-4710)aCc>aTc	p.T1570I	KIF26B_ENST00000366518.4_Missense_Mutation_p.T1189I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1570					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)			GCCTCGGGCACCCCGCCCTCC	0.667																																																	0													11	14	13					1																	245850994		1953	4118	6071	SO:0001583	missense	0			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.4709C>T	1.37:g.245850994C>T	ENSP00000385545:p.Thr1570Ile		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T1570I	ENST00000407071.2	37	c.4709	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	3.930	-0.016372	0.07681	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.78003	-1.14;-1.14	4.05	2.1	0.27182	.	.	.	.	.	T	0.62307	0.2417	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45963	-0.9225	9	0.25106	T	0.35	.	7.6879	0.28550	0.0:0.5956:0.3124:0.092	.	1189;1570	B7WPD9;Q2KJY2	.;KI26B_HUMAN	I	1570;1189;1186	ENSP00000385545:T1570I;ENSP00000355475:T1189I	ENSP00000355475:T1189I	T	+	2	0	KIF26B	243917617	0.000000	0.05858	0.406000	0.26421	0.103000	0.19146	0.430000	0.21428	0.335000	0.23614	0.555000	0.69702	ACC	KIF26B	-	NULL	ENSG00000162849		0.667	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0	54	0	C	XM_371354		245850994	1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	11.11	47	6	SNP	0.291	T	T	245850994	C	T	245850994	3	4	160	1	0	0	0	0	1	0	0	0	8322	507	18	3	4755	3	KIF26B	1	245850994	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	5194632	245850994	3399627	39	40536											
ALK	238	genome.wustl.edu	37	chr2	30142898	30142898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gagaaggcggggctgggaggCgcgaattgccgcggacagcc	8	3	20	10	5	0	1	0	0	0	1	0	5	0	3	2	6	2	1	2	6	2	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:30142898C>T	ENST00000389048.3	-	1	1534	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	ALK_ENST00000431873.1_Missense_Mutation_p.A210T	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	210					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)	GGCTGGGAGGCGCGAATTGCC	0.597			"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													36	44	42					2																	30142898		2202	4299	6501	SO:0001583	missense	0	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.628G>A	2.37:g.30142898C>T	ENSP00000373700:p.Ala210Thr		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A210T	ENST00000389048.3	37	c.628	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114288	0.77210	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	D;T	0.86097	-2.07;2.16	5.23	5.23	0.72850	.	.	.	.	.	D	0.87609	0.6220	L	0.27053	0.805	0.45883	D	0.998733	D	0.89917	1.0	D	0.83275	0.996	D	0.86254	0.1651	8	.	.	.	.	17.7559	0.88449	0.0:1.0:0.0:0.0	.	210	Q9UM73	ALK_HUMAN	T	210	ENSP00000373700:A210T;ENSP00000414027:A210T	.	A	-	1	0	ALK	29996402	1.000000	0.71417	0.990000	0.47175	0.632000	0.37999	6.476000	0.73587	2.596000	0.87737	0.655000	0.94253	GCC	ALK	-	NULL	ENSG00000171094		0.597	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	-	0	140	0	C	NM_004304		30142898	-1	tier1	-	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	8.27	122	11	SNP	1.000	T	T	30142898	C	T	30142898	3	4	160	1	0	0	0	0	1	0	0	0	525	768	27	1	4350	1	ALK	2	30142898	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09		30142898	213056475	40	40537											
NLRC4	58484	genome.wustl.edu	37	chr2	32476285	32476285	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatccaggagttgatcacaGagggtttcaaaaagtccacc	14	9	9	9	0	2	2	2	1	0	1	4	3	4	3	3	2	0	2	3	2	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:32476285G>A	ENST00000404025.2	-	5	1136	c.648C>T	c.(646-648)ctC>ctT	p.L216L	NLRC4_ENST00000360906.5_Silent_p.L216L|NLRC4_ENST00000402280.1_Silent_p.L216L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	216	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTTGATCACAGAGGGTTTCAA	0.527																																																	0													66	71	69					2																	32476285		2203	4300	6503	SO:0001819	synonymous_variant	0			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.648C>T	2.37:g.32476285G>A			A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD	p.L216	ENST00000404025.2	37	c.648	CCDS33174.1	2																																																																																			NLRC4	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000091106		0.527	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	-	0	69	0	G	NM_021209		32476285	-1	tier1	-	no_errors	ENST00000360906	ensembl	human	known	74_37	silent	13.16	66	10	SNP	0.839	A	A	32476285	G	A	32476285	2	1	160	1	0	0	0	0	0	0	0	1	10508	929	33	3		3	NLRC4	2	32476285	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2333387	32476285	210723088	41	40538											
HEATR5B	54497	genome.wustl.edu	37	chr2	37255142	37255142	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcattctcacacaaattGatgattcgacacaggcaatc	13	11	6	11	1	2	2	1	2	2	0	5	3	2	2	0	1	1	2	0	1	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:37255142G>A	ENST00000233099.5	-	24	3872	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I	HEATR5B_ENST00000354531.2_Silent_p.I1259I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1259						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)				CACACAAATTGATGATTCGAC	0.443																																																	0													95	96	96					2																	37255142		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3777C>T	2.37:g.37255142G>A			B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	superfamily_ARM-type_fold	p.I1259	ENST00000233099.5	37	c.3777	CCDS33181.1	2																																																																																			HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.443	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	-	0	97	0	G	NM_019024		37255142	-1	tier1	-	no_errors	ENST00000233099	ensembl	human	known	74_37	silent	8.79	83	8	SNP	0.996	A	A	37255142	G	A	37255142	2	1	160	1	0	0	0	0	0	0	0	1	7059	1280	45	3		3	HEATR5B	2	37255142	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	4778857	37255142	205944231	42	40539											
KLRAQ1	129285	genome.wustl.edu	37	chr2	48698303	48698303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcatttatttgaaagtatCactgaggatactgtgactgt	11	16	8	6	0	2	3	2	3	0	0	2	4	2	4	0	1	1	1	0	1	4	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:48698303C>T	ENST00000294952.8	+	10	1132	c.975C>T	c.(973-975)atC>atT	p.I325I	PPP1R21_ENST00000281394.4_Silent_p.I325I|PPP1R21_ENST00000449090.2_Silent_p.I325I	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	325						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTGAAAGTATCACTGAGGATA	0.393																																																	0													107	103	105					2																	48698303		2203	4300	6503	SO:0001819	synonymous_variant	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.975C>T	2.37:g.48698303C>T			B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF	p.I325	ENST00000294952.8	37	c.975	CCDS46278.1	2																																																																																			PPP1R21	-	pfam_KLRAQ/TTKRSYEDQ_C	ENSG00000162869		0.393	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	-	0	57	0	C	NM_152994		48698303	1	tier1	-	no_errors	ENST00000294952	ensembl	human	known	74_37	silent	11.69	68	9	SNP	0.995	T	T	48698303	C	T	48698303	2	4	160	1	0	0	0	0	0	0	0	1	8440	816	29	3		3	KLRAQ1	2	48698303	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	11443161	48698303	194501070	43	40540											
CCDC85A	114800	genome.wustl.edu	37	chr2	56611446	56611446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaggttcgtgtcctggaAttaggcaacatttgtcagga	9	12	12	8	1	1	0	1	0	0	0	3	2	2	2	1	4	2	3	1	4	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:56611446A>G	ENST00000407595.2	+	6	2120	c.1618A>G	c.(1618-1620)Att>Gtt	p.I540V	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	540										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)			GTGTCCTGGAATTAGGCAACA	0.413																																																	0													108	106	106					2																	56611446		1954	4143	6097	SO:0001583	missense	0			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.1618A>G	2.37:g.56611446A>G	ENSP00000384040:p.Ile540Val			Missense_Mutation	SNP	pfam_DUF2216_coiled-coil	p.I540V	ENST00000407595.2	37	c.1618	CCDS46290.1	2	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192798	0.38707	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.95	5.95	0.96441	.	0.146895	0.46758	D	0.000277	T	0.55970	0.1954	N	0.14661	0.345	0.35465	D	0.796818	P	0.48640	0.913	P	0.61592	0.891	T	0.68194	-0.5473	9	0.59425	D	0.04	-40.9922	16.4323	0.83853	1.0:0.0:0.0:0.0	.	540	Q96PX6	CC85A_HUMAN	V	540;129	.	ENSP00000384040:I540V	I	+	1	0	CCDC85A	56464950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.418000	0.66429	2.281000	0.76405	0.528000	0.53228	ATT	CCDC85A	-	NULL	ENSG00000055813		0.413	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85A	HGNC	protein_coding	OTTHUMT00000324993.1	-	0	72	0	A			56611446	1	tier1	-	no_errors	ENST00000407595	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	G	G	56611446	A	G	56611446	3	3	160	1	0	0	0	0	1	0	0	0	2866	101	4	4	1640	4	CCDC85A	2	56611446	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	7913143	56611446	186587927	44	40541											
ANTXR1	84168	genome.wustl.edu	37	chr2	69240707	69240707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactctggtgctcatctgcGccgggcaagggggacgcagg	6	6	16	13	3	3	0	1	0	2	0	3	1	3	1	2	5	2	3	2	5	1	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:69240707G>A	ENST00000303714.4	+	1	398	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	ANTXR1_ENST00000409349.3_Missense_Mutation_p.A26T|ANTXR1_ENST00000409829.3_Missense_Mutation_p.A26T	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	26					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCTCATCTGCGCCGGGCAAGG	0.662									Familial Infantile Hemangioma																																								0													19	23	22					2																	69240707		2170	4264	6434	SO:0001583	missense	0	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.76G>A	2.37:g.69240707G>A	ENSP00000301945:p.Ala26Thr		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A26T	ENST00000303714.4	37	c.76	CCDS1892.1	2	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698032	0.30142	.	.	ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349	T;T;T	0.30981	1.51;2.9;1.92	5.01	4.12	0.48240	.	0.389824	0.25851	N	0.027887	T	0.12305	0.0299	N	0.08118	0	0.32181	N	0.580398	B;B;P;B	0.38020	0.013;0.021;0.615;0.296	B;B;B;B	0.25405	0.002;0.011;0.06;0.058	T	0.12967	-1.0527	10	0.16420	T	0.52	-11.1298	12.379	0.55295	0.0:0.0:0.8313:0.1687	.	26;26;26;26	Q9H6X2;Q9H6X2-2;Q9H6X2-4;Q9H6X2-3	ANTR1_HUMAN;.;.;.	T	26	ENSP00000301945:A26T;ENSP00000387058:A26T;ENSP00000386494:A26T	ENSP00000301945:A26T	A	+	1	0	ANTXR1	69094211	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	4.099000	0.57755	1.199000	0.43173	0.655000	0.94253	GCC	ANTXR1	-	pirsf_Anthrax_toxin_rcpt	ENSG00000169604		0.662	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANTXR1	HGNC	protein_coding	OTTHUMT00000251770.2	-	0	114	0	G	NM_032208		69240707	1	tier1	-	no_errors	ENST00000303714	ensembl	human	known	74_37	missense	10.64	84	10	SNP	1.000	A	A	69240707	G	A	69240707	3	1	160	1	0	0	0	0	1	0	0	0	711	1087	38	1	78	1	ANTXR1	2	69240707	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	12629261	69240707	173958666	45	40542											
LRRTM4	80059	genome.wustl.edu	37	chr2	77746393	77746393	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaacttcaagaggccagcaAatgcatttcgggacaagctt	13	10	9	9	1	1	1	1	0	0	1	2	2	1	2	1	2	4	3	1	2	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:77746393A>C	ENST00000409093.1	-	3	938	c.602T>G	c.(601-603)tTt>tGt	p.F201C	LRRTM4_ENST00000409911.1_Missense_Mutation_p.F202C|LRRTM4_ENST00000409884.1_Missense_Mutation_p.F201C|LRRTM4_ENST00000409282.1_Missense_Mutation_p.F202C|LRRTM4_ENST00000409088.3_Missense_Mutation_p.F201C			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	201					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GAGGCCAGCAAATGCATTTCG	0.433																																																	0													65	63	64					2																	77746393		1865	4086	5951	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.602T>G	2.37:g.77746393A>C	ENSP00000386357:p.Phe201Cys		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F202C	ENST00000409093.1	37	c.605	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	A	16.28	3.077797	0.55753	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.88149	0.6359	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.992;0.995	D	0.91328	0.5087	10	0.87932	D	0	.	14.6442	0.68748	1.0:0.0:0.0:0.0	.	202;201;201	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	C	202;201;201;201;202	ENSP00000387228:F202C;ENSP00000387297:F201C;ENSP00000386357:F201C;ENSP00000386236:F201C;ENSP00000386286:F202C	ENSP00000386236:F201C	F	-	2	0	LRRTM4	77599901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.139000	0.66308	0.460000	0.39030	TTT	LRRTM4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000176204		0.433	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0	45	0	A	NM_024993		77746393	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	C	C	77746393	A	C	77746393	3	2	160	1	0	0	0	0	1	0	0	0	9077	14	1	4	1184	4	LRRTM4	2	77746393	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	8505686	77746393	165452980	46	40543											
INPP4A	3631	genome.wustl.edu	37	chr2	99172180	99172180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggacagccacgcctactgGatcagaccagaagacccctt	11	5	9	16	2	1	3	1	0	0	3	1	5	1	5	6	2	2	0	6	2	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:99172180G>T	ENST00000523221.1	+	15	1746	c.1746G>T	c.(1744-1746)tgG>tgT	p.W582C	INPP4A_ENST00000409851.3_Missense_Mutation_p.W577C|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Intron|INPP4A_ENST00000409540.3_Intron|INPP4A_ENST00000074304.5_Missense_Mutation_p.W582C|INPP4A_ENST00000545415.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	582					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						ACGCCTACTGGATCAGACCAG	0.602																																																	0													94	109	104					2																	99172180		2186	4281	6467	SO:0001583	missense	0			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.1746G>T	2.37:g.99172180G>T	ENSP00000427722:p.Trp582Cys		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_dom	p.W582C	ENST00000523221.1	37	c.1746	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455582	0.63401	.	.	ENSG00000040933	ENST00000409851;ENST00000074304;ENST00000523221	T;T;T	0.16897	2.31;2.31;2.31	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000002	T	0.28962	0.0719	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.01692	-1.1294	9	.	.	.	-11.736	18.308	0.90189	0.0:0.0:1.0:0.0	.	582;577	Q96PE3;Q96PE3-3	INP4A_HUMAN;.	C	577;582;582	ENSP00000386777:W577C;ENSP00000074304:W582C;ENSP00000427722:W582C	.	W	+	3	0	INPP4A	98538612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.597000	0.82733	2.813000	0.96785	0.655000	0.94253	TGG	INPP4A	-	NULL	ENSG00000040933		0.602	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	-	0	48	0	G	NM_001566		99172180	1	tier1	-	no_errors	ENST00000074304	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	T	T	99172180	G	T	99172180	3	4	160	1	0	0	0	0	1	0	0	0	7779	1183	41	3	1804	3	INPP4A	2	99172180	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	21425787	99172180	144027193	47	40544											
GLI2	2736	genome.wustl.edu	37	chr2	121742273	121742273	+	Missense_Mutation	SNP	T	T	C	0	1	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	cagcagcaccagccaggccgTggaggactgcctgcacgtca	9	4	13	15	2	1	0	1	0	0	0	1	2	1	2	4	3	5	3	4	3	0	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:121742273T>C	ENST00000452319.1	+	12	1970	c.1910T>C	c.(1909-1911)gTg>gCg	p.V637A	GLI2_ENST00000361492.4_Missense_Mutation_p.V637A|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.V309A					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)				AGCCAGGCCGTGGAGGACTGC	0.682																																																	0													26	27	27					2																	121742273		2201	4297	6498	SO:0001583	missense	0				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.1910T>C	2.37:g.121742273T>C	ENSP00000390436:p.Val637Ala			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V637A	ENST00000452319.1	37	c.1910	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	T	7.240	0.601020	0.13939	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.13778	2.56;2.56;2.64	4.7	2.23	0.28157	.	0.470065	0.23995	N	0.042534	T	0.09686	0.0238	L	0.52011	1.625	0.35215	D	0.775539	B;B;B;B;B	0.12013	0.002;0.0;0.005;0.0;0.001	B;B;B;B;B	0.14578	0.003;0.001;0.011;0.003;0.004	T	0.25745	-1.0123	10	0.08381	T	0.77	.	4.8875	0.13710	0.0:0.2382:0.1485:0.6133	.	637;620;292;292;309	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	A	637;637;309	ENSP00000390436:V637A;ENSP00000354586:V637A;ENSP00000312694:V309A	ENSP00000312694:V309A	V	+	2	0	GLI2	121458743	0.976000	0.34144	0.900000	0.35374	0.936000	0.57629	0.959000	0.29240	0.282000	0.22254	0.459000	0.35465	GTG	GLI2	-	NULL	ENSG00000074047		0.682	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	-	0	65	0	T	NM_005270		121742273	1	tier1	-	no_errors	ENST00000361492	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.945	C	C	121742273	T	C	121742273	3	2	160	1	0	0	0	0	1	0	0	0	6464	1696	59	4	1952	4	GLI2	2	121742273	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	22570093	121742273	121457100	48	40545											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125192143	125192143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagtactctcaaagatgtGatctccctgaagttcaagag	13	11	9	8	0	3	5	2	3	2	2	5	5	3	5	1	0	1	2	1	0	4	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:125192143G>A	ENST00000431078.1	+	5	976	c.612G>A	c.(610-612)gtG>gtA	p.V204V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	204	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCAAAGATGTGATCTCCCTGA	0.493																																																	0													119	116	117					2																	125192143		2033	4209	6242	SO:0001819	synonymous_variant	0			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.612G>A	2.37:g.125192143G>A			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V204	ENST00000431078.1	37	c.612	CCDS46401.1	2																																																																																			CNTNAP5	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3		0	45	0	G			125192143	1			no_errors	ENST00000431078	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.993	A	A	125192143	G	A	125192143	2	1	160	1	0	0	0	0	0	0	0	1	3657	1277	45	3		3	CNTNAP5	2	125192143	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	3449870	125192143	118007230	49	40546											
MYO7B	4648	genome.wustl.edu	37	chr2	128364959	128364959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattcaggcccatgccagggGcatggctgcccggcgcaact	7	6	13	15	2	1	0	1	0	0	0	1	0	1	0	3	5	3	3	3	5	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:128364959G>T	ENST00000409816.2	+	20	2635	c.2603G>T	c.(2602-2604)gGc>gTc	p.G868V	MYO7B_ENST00000428314.1_Missense_Mutation_p.G868V|MYO7B_ENST00000389524.4_Missense_Mutation_p.G868V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	868	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.					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)		CATGCCAGGGGCATGGCTGCC	0.662																																																	0													14	20	18					2																	128364959		1885	3834	5719	SO:0001583	missense	0				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.2603G>T	2.37:g.128364959G>T	ENSP00000386461:p.Gly868Val		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.G868V	ENST00000409816.2	37	c.2603	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111120	0.77210	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.46063	0.88;0.88;0.88	5.6	4.71	0.59529	.	0.060596	0.64402	D	0.000004	T	0.72748	0.3499	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79505	-0.1776	10	0.44086	T	0.13	.	15.8265	0.78711	0.0:0.0:0.8629:0.1371	.	868	Q6PIF6	MYO7B_HUMAN	V	868	ENSP00000374175:G868V;ENSP00000415090:G868V;ENSP00000386461:G868V	ENSP00000374175:G868V	G	+	2	0	MYO7B	128081429	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.381000	0.97205	1.341000	0.45600	-0.311000	0.09066	GGC	MYO7B	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000169994		0.662	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	-	0	100	0	G	XM_291001		128364959	1	tier1	-	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	13.51	63	10	SNP	1.000	T	T	128364959	G	T	128364959	3	4	160	1	0	0	0	0	1	0	0	0	10121	1203	42	3	2681	3	MYO7B	2	128364959	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	3172816	128364959	114834414	50	40547											
UGGT1	56886	genome.wustl.edu	37	chr2	128870770	128870770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaattttccaattttcacCgccagcttatatcaaaaagc	14	12	5	10	1	2	0	2	0	0	0	3	1	3	1	3	1	2	1	3	1	6	6	rs374345386		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:128870770C>T	ENST00000259253.6	+	6	681	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	UGGT1_ENST00000375990.3_Missense_Mutation_p.R188C	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	212					'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						CAATTTTCACCGCCAGCTTAT	0.348																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77	82	80		634	4.7	0.3	2		80	0,8598		0,0,4299	no	missense	UGGT1	NM_020120.3	180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	212/1556	128870770	1,13003	2203	4299	6502	SO:0001583	missense	0			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.634C>T	2.37:g.128870770C>T	ENSP00000259253:p.Arg212Cys		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.R212C	ENST00000259253.6	37	c.634	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773984	0.31411	2.27E-4	0.0	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08807	3.05;3.05	5.58	4.69	0.59074	.	0.572765	0.20088	N	0.099509	T	0.09774	0.0240	L	0.32530	0.975	0.40541	D	0.981025	P;P	0.41450	0.749;0.75	B;B	0.41946	0.371;0.163	T	0.09378	-1.0677	10	0.66056	D	0.02	.	13.6962	0.62580	0.3371:0.6629:0.0:0.0	.	188;212	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	C	188;212	ENSP00000365158:R188C;ENSP00000259253:R212C	ENSP00000259253:R212C	R	+	1	0	UGGT1	128587240	0.804000	0.28969	0.256000	0.24389	0.223000	0.24884	3.254000	0.51477	1.310000	0.45006	0.585000	0.79938	CGC	UGGT1	-	NULL	ENSG00000136731		0.348	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0	45	0	C	NM_020120		128870770	1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	missense	7.89	70	6	SNP	0.761	T	T	128870770	C	T	128870770	3	4	160	1	0	0	0	0	1	0	0	0	16990	652	23	1	656	1	UGGT1	2	128870770	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	505811	128870770	114328603	51	40548											
FAM123C	205147	genome.wustl.edu	37	chr2	131519854	131519854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cagatgccccaacaaaggggCgcagctggaccccaaagggg	12	2	14	13	1	0	1	0	0	0	1	0	2	0	2	4	5	3	2	4	5	3	0	rs200636300		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:131519854C>T	ENST00000423981.1	+	2	319	c.209C>T	c.(208-210)gCg>gTg	p.A70V	AMER3_ENST00000321420.4_Missense_Mutation_p.A70V	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	70					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AACAAAGGGGCGCAGCTGGAC	0.632																																																	0													18	29	25					2																	131519854		2195	4294	6489	SO:0001583	missense	0			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.209C>T	2.37:g.131519854C>T	ENSP00000392700:p.Ala70Val		B7ZLH6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.A70V	ENST00000423981.1	37	c.209	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	C	11.15	1.555149	0.27739	.	.	ENSG00000178171	ENST00000321420;ENST00000431758;ENST00000458606;ENST00000423981	T;T	0.42900	0.96;0.96	5.39	-5.1	0.02911	.	0.803692	0.11384	N	0.569471	T	0.16769	0.0403	N	0.17082	0.46	0.09310	N	1	B	0.24533	0.105	B	0.12156	0.007	T	0.16541	-1.0399	10	0.21014	T	0.42	.	1.8922	0.03250	0.1147:0.2328:0.2261:0.4264	.	70	Q8N944	F123C_HUMAN	V	70	ENSP00000314914:A70V;ENSP00000392700:A70V	ENSP00000314914:A70V	A	+	2	0	FAM123C	131236324	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.078000	0.11375	-1.407000	0.02043	0.561000	0.74099	GCG	AMER3	-	NULL	ENSG00000178171		0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	HGNC	protein_coding	OTTHUMT00000254531.3	-	0	130	0	C	NM_152698		131519854	1	tier1	rs200636300	no_errors	ENST00000321420	ensembl	human	known	74_37	missense	10.64	83	10	SNP	0.000	T	T	131519854	C	T	131519854	3	4	160	1	0	0	0	0	1	0	0	0	5443	768	27	1	211	1	FAM123C	2	131519854	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	2649084	131519854	111679519	52	40549											
POTEE	445582	genome.wustl.edu	37	chr2	132021599	132021599	+	Silent	SNP	C	C	T	0	0	0	1	1	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	atcgtgatggactctggtgaCggggtcacccacactgtgcc	7	9	13	12	2	2	2	1	2	1	0	3	3	2	3	2	4	1	0	2	4	0	0	rs531655290	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:132021599C>T	ENST00000356920.5	+	15	2665	c.2571C>T	c.(2569-2571)gaC>gaT	p.D857D	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	857	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ACTCTGGTGACGGGGTCACCC	0.617													.|||	4	0.000798722	0	0.0014	5008	,	,		23413	0		0	False		,,,				2504	0.0031																0													67	68	67					2																	132021599		2144	4178	6322	SO:0001819	synonymous_variant	0			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.2571C>T	2.37:g.132021599C>T			Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.D857	ENST00000356920.5	37	c.2571	CCDS46414.1	2																																																																																			POTEE	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000188219		0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		-	0	108	0	C	NM_001083538		132021599	1	tier1	-	no_errors	ENST00000356920	ensembl	human	known	74_37	silent	9.26	98	10	SNP	1.000	T	T	132021599	C	T	132021599	2	4	160	1	0	0	0	0	0	0	0	1	12303	535	19	1		1	POTEE	2	132021599	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	501745	132021599	111177774	53	40550											
THSD7B	80731	genome.wustl.edu	37	chr2	138420994	138420994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggctatacagagataatGaaatcaaatggtttcctgga	16	10	10	5	0	1	2	1	1	0	1	2	4	2	3	1	3	1	2	1	3	6	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:138420994G>A	ENST00000409968.1	+	26	4678	c.4500G>A	c.(4498-4500)atG>atA	p.M1500I	THSD7B_ENST00000272643.3_Missense_Mutation_p.M1503I|THSD7B_ENST00000413152.2_Missense_Mutation_p.M1472I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1502						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGAGATAATGAAATCAAATG	0.378																																																	0													98	92	94					2																	138420994		1880	4108	5988	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4500G>A	2.37:g.138420994G>A	ENSP00000387145:p.Met1500Ile			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.M1503I	ENST00000409968.1	37	c.4509		2	.	.	.	.	.	.	.	.	.	.	.	27.9	4.871690	0.91587	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23950	2.4;2.27;1.88	6.02	6.02	0.97574	.	0.036417	0.85682	D	0.000000	T	0.28499	0.0705	L	0.55990	1.75	0.80722	D	1	P	0.42203	0.773	B	0.34418	0.182	T	0.07404	-1.0774	10	0.72032	D	0.01	.	20.6085	0.99466	0.0:0.0:1.0:0.0	.	1472	C9JKN6	.	I	1500;1503;1472	ENSP00000387145:M1500I;ENSP00000272643:M1503I;ENSP00000413841:M1472I	ENSP00000272643:M1503I	M	+	3	0	THSD7B	138137464	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.352000	0.97076	2.866000	0.98385	0.650000	0.86243	ATG	THSD7B	-	NULL	ENSG00000144229		0.378	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0	74	0	G	XM_046570.9		138420994	1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	6.86	95	7	SNP	1.000	A	A	138420994	G	A	138420994	3	1	160	1	0	0	0	0	1	0	0	0	15927	1290	45	3	4510	3	THSD7B	2	138420994	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	6399395	138420994	104778379	54	40551											
LRP1B	53353	genome.wustl.edu	37	chr2	141272283	141272283	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttctccatcacaaatccaAtgcttagaaatacatttttg	13	15	3	10	0	3	1	1	0	2	1	5	1	4	1	2	0	2	1	2	0	5	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:141272283A>G	ENST00000389484.3	-	51	9179	c.8208T>C	c.(8206-8208)caT>caC	p.H2736H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2736	LDL-receptor class A 16. {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)		CACAAATCCAATGCTTAGAAA	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													130	121	124					2																	141272283		2203	4300	6503	SO:0001819	synonymous_variant	0			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.8208T>C	2.37:g.141272283A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H2736	ENST00000389484.3	37	c.8208	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	68	0	A	NM_018557		141272283	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	5.38	88	5	SNP	0.996	G	G	141272283	A	G	141272283	2	3	160	1	0	0	0	0	0	0	0	1	8990	98	4	4		4	LRP1B	2	141272283	Silent	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	2851289	141272283	101927090	55	40552											
ZEB2	9839	genome.wustl.edu	37	chr2	145156009	145156009	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgtagcccaggaatactGgtctggactggtggcatgaa	9	9	15	8	1	1	1	0	1	1	0	2	3	1	3	1	6	2	2	1	6	4	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:145156009G>T	ENST00000558170.2	-	8	3929	c.2745C>A	c.(2743-2745)acC>acA	p.T915T	ZEB2_ENST00000303660.4_Silent_p.T915T|ZEB2_ENST00000539609.3_Silent_p.T891T|ZEB2_ENST00000409487.3_Silent_p.T915T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	915					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAGGAATACTGGTCTGGACTG	0.498																																					Melanoma(33;1235 1264 5755 16332)												0													172	167	169					2																	145156009		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2745C>A	2.37:g.145156009G>T			A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.T915	ENST00000558170.2	37	c.2745	CCDS2186.1	2																																																																																			ZEB2	-	NULL	ENSG00000169554		0.498	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	-	0	49	0	G	NM_014795		145156009	-1	tier1	-	no_errors	ENST00000303660	ensembl	human	known	74_37	silent	10.91	49	6	SNP	1.000	T	T	145156009	G	T	145156009	2	4	160	1	0	0	0	0	0	0	0	1	17672	1335	47	3		3	ZEB2	2	145156009	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	3883726	145156009	98043364	56	40553											
XIRP2	129446	genome.wustl.edu	37	chr2	168101667	168101667	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataagataaaagaaagccaAgaaggtgatgaatgtgttaa	20	8	11	2	0	0	5	0	2	0	3	0	6	0	5	1	1	1	1	1	1	8	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:168101667A>T	ENST00000409195.1	+	9	3854	c.3765A>T	c.(3763-3765)caA>caT	p.Q1255H	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1255H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1033H|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1080					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						AAGAAAGCCAAGAAGGTGATG	0.338																																																	0													124	120	121					2																	168101667		1840	4093	5933	SO:0001583	missense	0			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.3765A>T	2.37:g.168101667A>T	ENSP00000386840:p.Gln1255His		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.Q1255H	ENST00000409195.1	37	c.3765	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	4.782	0.145476	0.09134	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02656	4.21;4.21;4.21	5.78	4.61	0.57282	.	0.540293	0.21231	N	0.077970	T	0.02767	0.0083	N	0.25144	0.715	0.31718	N	0.638688	B;B;B	0.20671	0.013;0.047;0.004	B;B;B	0.18263	0.007;0.021;0.01	T	0.14924	-1.0455	10	0.33940	T	0.23	-8.0435	12.2701	0.54702	0.8579:0.1421:0.0:0.0	.	1080;1080;1033	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	1255;1255;1033	ENSP00000386840:Q1255H;ENSP00000295237:Q1255H;ENSP00000387255:Q1033H	ENSP00000295237:Q1255H	Q	+	3	2	XIRP2	167809913	0.236000	0.23804	0.987000	0.45799	0.759000	0.43091	0.207000	0.17395	1.003000	0.39130	0.460000	0.39030	CAA	XIRP2	-	NULL	ENSG00000163092		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	69	0	A	NM_152381		168101667	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	13.51	64	10	SNP	0.853	T	T	168101667	A	T	168101667	3	4	160	1	0	0	0	0	1	0	0	0	17479	69	3	5	3795	5	XIRP2	2	168101667	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	22945658	168101667	75097706	57	40554											
LRP2	4036	genome.wustl.edu	37	chr2	170007486	170007486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttctgtaccttccatcaAgtttagccacctcaatgcgt	9	14	5	13	1	3	0	2	0	1	0	4	0	4	0	4	0	3	2	4	0	4	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:170007486A>G	ENST00000263816.3	-	68	12797	c.12512T>C	c.(12511-12513)cTt>cCt	p.L4171P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4171					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)"	CCTTCCATCAAGTTTAGCCAC	0.428																																																	0													180	159	166					2																	170007486		2203	4300	6503	SO:0001583	missense	0				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.12512T>C	2.37:g.170007486A>G	ENSP00000263816:p.Leu4171Pro		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L4171P	ENST00000263816.3	37	c.12512	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006123	0.74932	.	.	ENSG00000081479	ENST00000263816	D	0.89270	-2.49	5.86	5.86	0.93980	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.95768	0.8623	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96190	0.9137	10	0.52906	T	0.07	.	16.2453	0.82441	1.0:0.0:0.0:0.0	.	4171	P98164	LRP2_HUMAN	P	4171	ENSP00000263816:L4171P	ENSP00000263816:L4171P	L	-	2	0	LRP2	169715732	1.000000	0.71417	0.985000	0.45067	0.813000	0.45954	9.078000	0.94023	2.241000	0.73720	0.533000	0.62120	CTT	LRP2	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	92	0	A	NM_004525		170007486	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	5.75	82	5	SNP	1.000	G	G	170007486	A	G	170007486	3	3	160	1	0	0	0	0	1	0	0	0	8991	72	3	4	1503	4	LRP2	2	170007486	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	1905819	170007486	73191887	58	40555											
LRP2	4036	genome.wustl.edu	37	chr2	170070266	170070266	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaactctttcaatgacctCatactgttcatcagtataat	13	15	3	10	0	6	1	5	1	1	0	6	1	6	1	1	0	2	2	1	0	5	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:170070266C>G	ENST00000263816.3	-	36	6226	c.5941G>C	c.(5941-5943)Gag>Cag	p.E1981Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1981					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)"	TCAATGACCTCATACTGTTCA	0.443																																																	0													129	128	129					2																	170070266		2203	4300	6503	SO:0001583	missense	0				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.5941G>C	2.37:g.170070266C>G	ENSP00000263816:p.Glu1981Gln		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E1981Q	ENST00000263816.3	37	c.5941	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869064	0.72065	.	.	ENSG00000081479	ENST00000263816	D	0.91011	-2.77	5.96	5.96	0.96718	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94574	0.8252	L	0.58583	1.82	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93364	0.6729	10	0.45353	T	0.12	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	1981	P98164	LRP2_HUMAN	Q	1981	ENSP00000263816:E1981Q	ENSP00000263816:E1981Q	E	-	1	0	LRP2	169778512	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	5.900000	0.69853	2.831000	0.97527	0.650000	0.86243	GAG	LRP2	-	smart_LDLR_classB_rpt	ENSG00000081479		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	62	0	C	NM_004525		170070266	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	G	G	170070266	C	G	170070266	3	3	160	1	0	0	0	0	1	0	0	0	8991	835	29	5	8202	5	LRP2	2	170070266	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	62780	170070266	73129107	59	40556											
TTN	7273	genome.wustl.edu	37	chr2	179605249	179605249	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtcagatactgtcttttcTtttggtgaaagtacttcctc	7	18	8	8	0	3	2	1	1	2	1	5	2	4	2	1	1	2	1	1	1	3	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:179605249T>G	ENST00000591111.1	-	46	11984	c.11760A>C	c.(11758-11760)aaA>aaC	p.K3920N	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K3999N|TTN_ENST00000460472.2_Missense_Mutation_p.K3874N|TTN_ENST00000589042.1_Missense_Mutation_p.K4237N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K4066N			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTCTTTTCTTTTGGTGAAA	0.433																																																	0													140	126	131					2																	179605249		1916	4131	6047	SO:0001583	missense	0			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.11760A>C	2.37:g.179605249T>G	ENSP00000465570:p.Lys3920Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K4066N	ENST00000591111.1	37	c.12198		2	.	.	.	.	.	.	.	.	.	.	T	7.002	0.555024	0.13436	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.69926	-0.43;-0.43;-0.44	5.51	3.09	0.35607	.	.	.	.	.	T	0.52948	0.1766	L	0.32530	0.975	0.26905	N	0.967037	B;B;P	0.41366	0.449;0.449;0.747	B;B;B	0.36418	0.224;0.224;0.224	T	0.47947	-0.9077	9	0.87932	D	0	.	10.1568	0.42827	0.0:0.1373:0.0:0.8627	.	3874;3999;4066	D3DPF9;E7EQE6;E7ET18	.;.;.	N	3874;4066;3999;3874	ENSP00000434586:K3874N;ENSP00000340554:K4066N;ENSP00000352154:K3999N	ENSP00000340554:K4066N	K	-	3	2	TTN	179313494	1.000000	0.71417	0.873000	0.34254	0.200000	0.23975	1.800000	0.38833	0.924000	0.37069	0.533000	0.62120	AAA	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	60	0	T	NM_133378		179605249	-1	tier1	-	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	G	G	179605249	T	G	179605249	3	3	160	1	0	0	0	0	1	0	0	0	16784	1606	56	4	92078	4	TTN	2	179605249	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	9534983	179605249	63594124	60	40557											
CCDC141	285025	genome.wustl.edu	37	chr2	179730546	179730546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacactacgggacagggtcCgtccatactcctcagctttg	8	9	9	15	2	1	0	1	0	0	0	4	1	4	1	4	2	3	1	4	2	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:179730546C>T	ENST00000420890.2	-	17	2789	c.2672G>A	c.(2671-2673)cGg>cAg	p.R891Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.R316Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	891										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)			GGACAGGGTCCGTCCATACTC	0.532																																																	0													347	309	322					2																	179730546		2203	4300	6503	SO:0001583	missense	0			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.2672G>A	2.37:g.179730546C>T	ENSP00000395995:p.Arg891Gln		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R891Q	ENST00000420890.2	37	c.2672		2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069630	0.36470	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.44881	0.91;1.43;1.43;1.54	6.07	-4.85	0.03142	.	1.075440	0.07211	N	0.859190	T	0.24890	0.0604	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.40040	-0.9584	10	0.09338	T	0.73	-1.485	15.8301	0.78743	0.0:0.1575:0.0:0.8425	.	316	Q6ZP82	CC141_HUMAN	Q	891;335;316;891	ENSP00000395995:R891Q;ENSP00000344627:R335Q;ENSP00000295723:R316Q;ENSP00000390190:R891Q	ENSP00000295723:R316Q	R	-	2	0	CCDC141	179438791	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.169000	0.09911	-0.709000	0.05008	-1.000000	0.02509	CGG	CCDC141	-	NULL	ENSG00000163492		0.532	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		-	0	114	0	C	NM_173648		179730546	-1	tier1	-	no_errors	ENST00000420890	ensembl	human	known	74_37	missense	6.52	86	6	SNP	0.000	T	T	179730546	C	T	179730546	3	4	160	1	0	0	0	0	1	0	0	0	2782	652	23	1	1708	1	CCDC141	2	179730546	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	125297	179730546	63468827	61	40558											
CPS1	1373	genome.wustl.edu	37	chr2	211447374	211447374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagattgaatttgaaggtCagcctgtggattttgtggat	10	14	14	3	0	1	3	1	2	0	1	1	6	1	6	1	4	1	0	1	4	3	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:211447374C>A	ENST00000233072.5	+	6	758	c.562C>A	c.(562-564)Cag>Aag	p.Q188K	CPS1_ENST00000430249.2_Missense_Mutation_p.Q194K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	188	Anthranilate phosphoribosyltransferase homolog.				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)	p.Q194K(1)|p.Q188K(1)		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)	ATTTGAAGGTCAGCCTGTGGA	0.348																																																	2	Substitution - Missense(2)	lung(2)											146	146	146					2																	211447374		2203	4300	6503	SO:0001583	missense	0			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.562C>A	2.37:g.211447374C>A	ENSP00000233072:p.Gln188Lys		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.Q194K	ENST00000233072.5	37	c.580	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824201	0.32237	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.93811	-3.29;-3.29	5.67	5.67	0.87782	Carbamoyl-phosphate synthase, small subunit, N-terminal (2);	0.053817	0.85682	D	0.000000	D	0.87799	0.6268	L	0.35414	1.06	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.82076	-0.0636	10	0.07644	T	0.81	5.0499	14.5851	0.68317	0.146:0.854:0.0:0.0	.	198;188	Q59HF8;P31327	.;CPSM_HUMAN	K	194;196;188;188	ENSP00000402608:Q194K;ENSP00000233072:Q188K	ENSP00000233072:Q188K	Q	+	1	0	CPS1	211155619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.436000	0.59948	2.670000	0.90874	0.655000	0.94253	CAG	CPS1	-	superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu	ENSG00000021826		0.348	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0	79	0	C			211447374	1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	6.82	82	6	SNP	1.000	A	A	211447374	C	A	211447374	3	1	160	1	0	0	0	0	1	0	0	0	3830	827	29	3	606	3	CPS1	2	211447374	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	31716828	211447374	31751999	62	40559											
ABCA12	26154	genome.wustl.edu	37	chr2	215819997	215819997	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggaattaatgccaaaaaAcaagttgacacagacgtaag	20	7	8	6	1	0	2	0	1	0	1	0	3	0	3	1	1	2	2	1	1	8	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:215819997A>T	ENST00000272895.7	-	43	6541	c.6322T>A	c.(6322-6324)Ttt>Att	p.F2108I	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.F1790I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2108					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)		ATGCCAAAAAACAAGTTGACA	0.413																																					Ovarian(66;664 1488 5121 34295)												0													95	84	88					2																	215819997		2203	4300	6503	SO:0001583	missense	0			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.6322T>A	2.37:g.215819997A>T	ENSP00000272895:p.Phe2108Ile		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F2108I	ENST00000272895.7	37	c.6322	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	16.61	3.169921	0.57584	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.85484	-1.99;-1.99	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	D	0.90752	0.7097	L	0.61387	1.9	0.80722	D	1	D;P	0.89917	1.0;0.51	D;B	0.97110	1.0;0.279	D	0.88774	0.3266	10	0.26408	T	0.33	.	16.4461	0.83932	1.0:0.0:0.0:0.0	.	2108;1790	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	I	2108;1790	ENSP00000272895:F2108I;ENSP00000374312:F1790I	ENSP00000272895:F2108I	F	-	1	0	ABCA12	215528242	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.327000	0.79147	2.285000	0.76669	0.528000	0.53228	TTT	ABCA12	-	NULL	ENSG00000144452		0.413	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	74	0	A	NM_173076		215819997	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	14.13	79	13	SNP	1.000	T	T	215819997	A	T	215819997	3	4	160	1	0	0	0	0	1	0	0	0	30	43	2	5	1509	5	ABCA12	2	215819997	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	4372623	215819997	27379376	63	40560											
CCDC108	255101	genome.wustl.edu	37	chr2	219874718	219874718	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaatttcctcgttcttGgagatgttgttgaggaagag	10	13	13	5	1	1	3	0	1	1	2	3	5	2	4	1	3	0	4	1	3	3	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:219874718G>A	ENST00000341552.5	-	27	4481	c.4398C>T	c.(4396-4398)tcC>tcT	p.S1466S	CCDC108_ENST00000453220.1_Silent_p.S1466S|CCDC108_ENST00000441968.1_Silent_p.S1466S|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1466						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)		CCTCGTTCTTGGAGATGTTGT	0.542																																																	0													102	95	98					2																	219874718		2200	4298	6498	SO:0001819	synonymous_variant	0			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.4398C>T	2.37:g.219874718G>A			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_MSP_dom	p.S1466	ENST00000341552.5	37	c.4398	CCDS2430.2	2																																																																																			CCDC108	-	superfamily_PapD-like	ENSG00000181378		0.542	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	-	0	56	0	G	NM_194302		219874718	-1	tier1	-	no_errors	ENST00000341552	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.976	A	A	219874718	G	A	219874718	2	1	160	1	0	0	0	0	0	0	0	1	2750	1335	47	3		3	CCDC108	2	219874718	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	4054721	219874718	23324655	64	40561											
EPHA4	2043	genome.wustl.edu	37	chr2	222347086	222347086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctacctgcttggttggtgGtcacagtgacagaaactgat	9	12	11	9	0	1	3	1	2	0	1	2	3	2	3	2	3	3	2	2	3	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:222347086G>A	ENST00000281821.2	-	5	1345	c.1304C>T	c.(1303-1305)aCc>aTc	p.T435I	EPHA4_ENST00000392071.4_Missense_Mutation_p.T384I|EPHA4_ENST00000409938.1_Missense_Mutation_p.T435I|EPHA4_ENST00000409854.1_Missense_Mutation_p.T435I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	435	Fibronectin type-III 1. {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)		TTGGTTGGTGGTCACAGTGAC	0.363																																																	0													158	155	156					2																	222347086		2203	4300	6503	SO:0001583	missense	0			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.1304C>T	2.37:g.222347086G>A	ENSP00000281821:p.Thr435Ile		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T435I	ENST00000281821.2	37	c.1304	CCDS2447.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.922800|4.922800	0.92319|0.92319	.|.	.|.	ENSG00000116106|ENSG00000116106	ENST00000441679|ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000443796	.|T;T;T;T;T	.|0.55930	.|0.49;0.49;0.49;0.49;0.49	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Fibronectin, type III (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77287|0.77287	0.4108|0.4108	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.78494|0.78494	-0.2182|-0.2182	5|10	.|0.87932	.|D	.|0	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|435	.|P54764	.|EPHA4_HUMAN	S|I	172|435;435;435;384;139	.|ENSP00000281821:T435I;ENSP00000386276:T435I;ENSP00000386829:T435I;ENSP00000375923:T384I;ENSP00000395917:T139I	.|ENSP00000281821:T435I	P|T	-|-	1|2	0|0	EPHA4|EPHA4	222055330|222055330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.793000|9.793000	0.99091|0.99091	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CCA|ACC	EPHA4	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3	ENSG00000116106		0.363	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	-	0	84	0	G			222347086	-1	tier1	-	no_errors	ENST00000281821	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	A	A	222347086	G	A	222347086	3	1	160	1	0	0	0	0	1	0	0	0	5185	1261	44	3	1708	3	EPHA4	2	222347086	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2472368	222347086	20852287	65	40562											
ALPP	250	genome.wustl.edu	37	chr2	233245152	233245152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccggtatgtgtggaaccGcactgagctcatgcaggctt	7	10	13	11	2	1	1	1	1	0	0	1	2	1	2	2	3	4	5	2	3	2	2	rs148586042	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:233245152G>A	ENST00000392027.2	+	7	1084	c.815G>A	c.(814-816)cGc>cAc	p.R272H	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	272					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)		GTGTGGAACCGCACTGAGCTC	0.652																																																	0								G	HIS/ARG	0,4406		0,0,2203	105	112	109		815	1.1	0.4	2	dbSNP_134	109	3,8597		0,3,4297	no	missense	ALPP	NM_001632.3	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	272/536	233245152	3,13003	2203	4300	6503	SO:0001583	missense	0			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.815G>A	2.37:g.233245152G>A	ENSP00000375881:p.Arg272His		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.R272H	ENST00000392027.2	37	c.815	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	.	12.77	2.038819	0.35989	0.0	3.49E-4	ENSG00000163283	ENST00000392027	D	0.97831	-4.56	3.2	1.09	0.20402	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.234706	0.40728	N	0.001032	D	0.96950	0.9004	H	0.95328	3.655	0.36551	D	0.871871	B	0.33212	0.402	B	0.31869	0.137	D	0.93708	0.7021	10	0.72032	D	0.01	.	2.8023	0.05418	0.3268:0.0:0.4648:0.2085	.	272	P05187	PPB1_HUMAN	H	272	ENSP00000375881:R272H	ENSP00000375881:R272H	R	+	2	0	ALPP	232953396	0.004000	0.15560	0.362000	0.25862	0.128000	0.20619	0.508000	0.22692	-0.045000	0.13468	0.305000	0.20034	CGC	ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163283		0.652	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3		0	88	0	G	NM_001632		233245152	1			no_errors	ENST00000392027	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.748	A	A	233245152	G	A	233245152	3	1	160	1	0	0	0	0	1	0	0	0	548	1087	38	1	841	1	ALPP	2	233245152	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	10898066	233245152	9954221	66	40563											
EFHD1	80303	genome.wustl.edu	37	chr2	233546386	233546386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggagaggcggctccGccaggcagccttccagaaac	10	3	16	12	2	0	2	0	0	0	2	2	5	2	4	4	6	2	2	4	6	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:233546386G>A	ENST00000264059.3	+	4	1154	c.677G>A	c.(676-678)cGc>cAc	p.R226H	EFHD1_ENST00000410095.1_Missense_Mutation_p.R114H|EFHD1_ENST00000409708.1_Missense_Mutation_p.R114H|snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000409613.1_Missense_Mutation_p.R130H	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	226					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.R226H(1)		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)		AGGCGGCTCCGCCAGGCAGCC	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											81	72	75					2																	233546386		2203	4300	6503	SO:0001583	missense	0				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.677G>A	2.37:g.233546386G>A	ENSP00000264059:p.Arg226His		B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R226H	ENST00000264059.3	37	c.677	CCDS2497.1	2	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610823	0.66558	.	.	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000410095	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.65	4.77	0.60923	.	0.100872	0.64402	N	0.000002	T	0.58552	0.2130	M	0.71871	2.18	0.80722	D	1	B;D	0.56287	0.032;0.975	B;P	0.52159	0.007;0.691	T	0.64360	-0.6426	10	0.72032	D	0.01	-11.9883	13.4861	0.61366	0.0759:0.0:0.9241:0.0	.	130;226	E9PFH3;Q9BUP0	.;EFHD1_HUMAN	H	130;226;129;114;114	ENSP00000386556:R130H;ENSP00000264059:R226H;ENSP00000386243:R114H;ENSP00000386685:R114H	ENSP00000264059:R226H	R	+	2	0	EFHD1	233254630	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	6.076000	0.71267	1.406000	0.46857	0.586000	0.80456	CGC	EFHD1	-	NULL	ENSG00000115468		0.567	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHD1	HGNC	protein_coding	OTTHUMT00000257040.2	-	0	100	0	G	NM_025202		233546386	1	tier1	-	no_errors	ENST00000264059	ensembl	human	known	74_37	missense	10.00	81	9	SNP	1.000	A	A	233546386	G	A	233546386	3	1	160	1	0	0	0	0	1	0	0	0	4962	1087	38	1	691	1	EFHD1	2	233546386	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	301234	233546386	9652987	67	40564											
GIGYF2	26058	genome.wustl.edu	37	chr2	233655756	233655756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attccagaagagcaggagatGgacttccggcctgtggacga	11	7	14	9	2	0	3	0	0	0	3	2	7	2	5	3	4	1	1	3	4	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:233655756G>T	ENST00000409547.1	+	13	1280	c.969G>T	c.(967-969)atG>atT	p.M323I	GIGYF2_ENST00000373566.3_Missense_Mutation_p.M345I|GIGYF2_ENST00000409480.1_Missense_Mutation_p.M345I|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M154I|GIGYF2_ENST00000373563.4_Missense_Mutation_p.M323I|GIGYF2_ENST00000409451.3_Missense_Mutation_p.M345I|GIGYF2_ENST00000409196.3_Missense_Mutation_p.M317I	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	323					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)		AGCAGGAGATGGACTTCCGGC	0.448																																																	0													67	71	69					2																	233655756		2203	4300	6503	SO:0001583	missense	0			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.969G>T	2.37:g.233655756G>T	ENSP00000386537:p.Met323Ile		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	NULL	p.G48*	ENST00000409547.1	37	c.142	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940190	0.73557	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341;ENST00000427649;ENST00000410033	T;T;T;T;T;T;T;T;T;D;D	0.82167	-0.54;-0.54;-0.54;-0.54;-0.68;-0.55;-0.54;-0.69;-0.38;-1.58;-1.56	5.37	5.37	0.77165	.	0.155295	0.64402	D	0.000016	T	0.78175	0.4242	L	0.34521	1.04	0.54753	D	0.999989	B;B;B;B	0.27416	0.178;0.024;0.015;0.024	B;B;B;B	0.33846	0.171;0.024;0.004;0.024	T	0.72491	-0.4277	10	0.14656	T	0.56	-15.1549	19.1179	0.93350	0.0:0.0:1.0:0.0	.	154;345;323;317	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	I	345;266;323;345;323;323;266;317;345;317;154;75;105	ENSP00000362667:M345I;ENSP00000362664:M323I;ENSP00000386765:M345I;ENSP00000386537:M323I;ENSP00000404195:M266I;ENSP00000387070:M317I;ENSP00000387170:M345I;ENSP00000410297:M317I;ENSP00000411505:M154I;ENSP00000398055:M75I;ENSP00000387276:M105I	ENSP00000362664:M323I	M	+	3	0	GIGYF2	233364000	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.539000	0.60657	2.513000	0.84729	0.655000	0.94253	ATG	GIGYF2	-	NULL	ENSG00000204120		0.448	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	-	0	49	0	G	NM_001103146		233655756	1	tier1	-	no_errors	ENST00000458528	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	1.000	T	T	233655756	G	T	233655756	3	4	160	1	0	0	0	0	1	0	0	0	6404	1348	47	3	1073	3	GIGYF2	2	233655756	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	109370	233655756	9543617	68	40565											
UGT1A9	54600	genome.wustl.edu	37	chr2	234581373	234581373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggactatcccaaacccGtgatgcccaacatgatcttc	10	12	6	13	1	1	2	0	2	1	0	3	3	2	3	3	1	3	0	3	1	3	4	rs142414435	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:234581373G>A	ENST00000354728.4	+	1	875	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.V265M|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	265					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)	TCCCAAACCCGTGATGCCCAA	0.438													G|||	2	0.000399361	0.0015	0	5008	,	,		18338	0		0	False		,,,				2504	0																0								G	,,MET/VAL	6,4400	11.4+/-27.6	0,6,2197	213	199	204		,,793	1.2	1	2	dbSNP_134	204	0,8600		0,0,4300	no	intron,intron,missense	UGT1A10,UGT1A8,UGT1A9	NM_019075.2,NM_019076.4,NM_021027.2	,,21	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,,	,,265/531	234581373	6,13000	2203	4300	6503	SO:0001583	missense	0			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.793G>A	2.37:g.234581373G>A	ENSP00000346768:p.Val265Met		B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V265M	ENST00000354728.4	37	c.793	CCDS2505.1	2	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013250	0.35511	0.001362	0.0	ENSG00000241119	ENST00000354728	T	0.61510	0.1	3.26	1.17	0.20885	.	.	.	.	.	T	0.59715	0.2214	M	0.71206	2.165	0.09310	N	1	D;D	0.54397	0.966;0.966	P;P	0.49953	0.627;0.627	T	0.51419	-0.8708	9	0.62326	D	0.03	.	5.2104	0.15314	0.2632:0.0:0.5806:0.1563	.	265;265	Q5DSZ5;O60656	.;UD19_HUMAN	M	265	ENSP00000346768:V265M	ENSP00000346768:V265M	V	+	1	0	UGT1A9	234246112	0.000000	0.05858	0.980000	0.43619	0.769000	0.43574	-1.094000	0.03359	0.680000	0.31366	0.446000	0.29264	GTG	UGT1A9	-	pfam_UDP_glucos_trans	ENSG00000241119		0.438	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A9	HGNC	protein_coding	OTTHUMT00000130995.1	-	0	73	0	G	NM_021027		234581373	1	tier1	rs142414435	no_errors	ENST00000354728	ensembl	human	known	74_37	missense	9.09	60	6	SNP	0.008	A	A	234581373	G	A	234581373	3	1	160	1	0	0	0	0	1	0	0	0	17001	1145	40	1	795	1	UGT1A9	2	234581373	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	925617	234581373	8618000	69	40566											
COL6A3	1293	genome.wustl.edu	37	chr2	238275718	238275718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaccactttgttgatggcGtcaataatctgcctcttggt	8	15	9	9	1	3	2	1	1	2	1	3	2	3	2	2	2	1	1	2	2	3	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:238275718G>A	ENST00000295550.4	-	11	5564	c.5112C>T	c.(5110-5112)gaC>gaT	p.D1704D	COL6A3_ENST00000346358.4_Silent_p.D1504D|COL6A3_ENST00000472056.1_Silent_p.D1097D|COL6A3_ENST00000347401.3_Silent_p.D1503D|COL6A3_ENST00000409809.1_Silent_p.D1498D|COL6A3_ENST00000353578.4_Silent_p.D1498D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1704	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGTTGATGGCGTCAATAATCT	0.532																																																	0													90	74	79					2																	238275718		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5112C>T	2.37:g.238275718G>A			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D1704	ENST00000295550.4	37	c.5112	CCDS33412.1	2																																																																																			COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.532	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	64	0	G	NM_004369		238275718	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	silent	7.35	63	5	SNP	0.039	A	A	238275718	G	A	238275718	2	1	160	1	0	0	0	0	0	0	0	1	3708	1136	40	1		1	COL6A3	2	238275718	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	3694345	238275718	4923655	70	40567											
RBM44	375316	genome.wustl.edu	37	chr2	238728863	238728863	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gagaaggatttgccatcaatGtgctgtcagaagataatgca	14	10	11	6	0	2	3	2	0	0	3	2	5	2	4	1	1	3	2	1	1	4	2	rs558558647		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:238728863G>T	ENST00000409864.1	+	5	2039	c.1785G>T	c.(1783-1785)atG>atT	p.M595I	RBM44_ENST00000316997.4_Missense_Mutation_p.M595I|RBM44_ENST00000444524.2_3'UTR			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	594						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGCCATCAATGTGCTGTCAGA	0.338													G|||	1	0.000199681	0	0	5008	,	,		15915	0.001		0	False		,,,				2504	0																0													56	50	52					2																	238728863		1865	4107	5972	SO:0001583	missense	0			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1785G>T	2.37:g.238728863G>T	ENSP00000386727:p.Met595Ile		A0AUW3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M595I	ENST00000409864.1	37	c.1785	CCDS46554.1	2	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753626	0.31046	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.21543	2.0;2.0	5.92	0.439	0.16567	.	1.310940	0.04983	N	0.466013	T	0.13927	0.0337	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.30621	-0.9972	10	0.27082	T	0.32	0.4355	5.9479	0.19229	0.3166:0.0:0.5544:0.129	.	594	Q6ZP01	RBM44_HUMAN	I	595	ENSP00000321179:M595I;ENSP00000386727:M595I	ENSP00000321179:M595I	M	+	3	0	RBM44	238393602	0.020000	0.18652	0.137000	0.22149	0.878000	0.50629	-0.005000	0.12855	0.122000	0.18314	0.467000	0.42956	ATG	RBM44	-	NULL	ENSG00000177483		0.338	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	HGNC	protein_coding	OTTHUMT00000328733.2	-	0	58	0	G	NM_001080504		238728863	1	tier1	-	no_errors	ENST00000316997	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.045	T	T	238728863	G	T	238728863	3	4	160	1	0	0	0	0	1	0	0	0	13183	1377	48	3	1799	3	RBM44	2	238728863	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	453145	238728863	4470510	71	40568											
DTYMK	1841	genome.wustl.edu	37	chr2	242617947	242617947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagccccgttctcatagcGctcatggccaaacgctcccc	9	7	8	17	3	2	0	2	0	1	0	4	1	3	0	5	1	3	3	5	1	3	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:242617947G>A	ENST00000305784.2	-	4	655	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	150					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		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;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-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;0.0825)		TTCTCATAGCGCTCATGGCCA	0.577																																																	0													80	85	83					2																	242617947		2203	4296	6499	SO:0001583	missense	0			X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"dTMP kinase", "thymidylate (dTMP) kinase"	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.448C>T	2.37:g.242617947G>A	ENSP00000304802:p.Arg150Cys		B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase	p.R150C	ENST00000305784.2	37	c.448	CCDS2552.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.318443|2.318443	0.40996|0.40996	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000445261|ENST00000305784	.|D	.|0.95342	.|-3.68	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.252909	.|0.38897	.|N	.|0.001530	D|D	0.98046|0.98046	0.9356|0.9356	H|H	0.95950|0.95950	3.745|3.745	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.996;0.999	D|D	0.98866|0.98866	1.0764|1.0764	5|10	.|0.87932	.|D	.|0	-19.5194|-19.5194	13.7209|13.7209	0.62725|0.62725	0.0:0.0:0.846:0.154|0.0:0.0:0.846:0.154	.|.	.|126;150	.|B7ZW70;P23919	.|.;KTHY_HUMAN	V|C	107|150	.|ENSP00000304802:R150C	.|ENSP00000304802:R150C	A|R	-|-	2|1	0|0	DTYMK|DTYMK	242266620|242266620	1.000000|1.000000	0.71417|0.71417	0.482000|0.482000	0.27366|0.27366	0.024000|0.024000	0.10985|0.10985	3.439000|3.439000	0.52878|0.52878	2.493000|2.493000	0.84123|0.84123	0.655000|0.655000	0.94253|0.94253	GCG|CGC	DTYMK	-	superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase	ENSG00000168393		0.577	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTYMK	HGNC	protein_coding	OTTHUMT00000257266.2	-	0	40	0	G	NM_012145		242617947	-1	tier1	-	no_errors	ENST00000305784	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.998	A	A	242617947	G	A	242617947	3	1	160	1	0	0	0	0	1	0	0	0	4812	1087	38	1	198	1	DTYMK	2	242617947	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	3889084	242617947	581426	72	40569											
ITPR1	3708	genome.wustl.edu	37	chr3	4712438	4712438	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttctcgttttgaatttGaaggtgtctcttccactgga	6	19	8	8	1	3	2	0	2	3	0	6	3	4	3	1	2	0	1	1	2	2	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:4712438G>C	ENST00000443694.2	+	17	1987	c.1987G>C	c.(1987-1989)Gaa>Caa	p.E663Q	ITPR1_ENST00000354582.6_Missense_Mutation_p.E678Q|ITPR1_ENST00000357086.4_Missense_Mutation_p.E678Q|ITPR1_ENST00000302640.8_Missense_Mutation_p.E663Q|ITPR1_ENST00000423119.2_Missense_Mutation_p.E678Q|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E663Q			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	678					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)	TTTTGAATTTGAAGGTGTCTC	0.418																																																	0													74	64	67					3																	4712438		1864	4111	5975	SO:0001583	missense	0			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.1987G>C	3.37:g.4712438G>C	ENSP00000401671:p.Glu663Gln		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E663Q	ENST00000443694.2	37	c.1987	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967207	0.34754	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91351	-2.83;-2.81;-2.81;-2.81;-2.83;-2.83	5.1	5.1	0.69264	.	0.099031	0.64402	D	0.000002	T	0.82107	0.4965	N	0.08118	0	0.80722	D	1	B;B;B	0.18166	0.0;0.026;0.004	B;B;B	0.22601	0.004;0.04;0.015	T	0.76589	-0.2904	10	0.20519	T	0.43	.	18.5487	0.91056	0.0:0.0:1.0:0.0	.	663;678;678	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	Q	678;663;678;678;678;663;663	ENSP00000306253:E663Q;ENSP00000346595:E678Q;ENSP00000405934:E678Q;ENSP00000349597:E678Q;ENSP00000397885:E663Q;ENSP00000401671:E663Q	ENSP00000306253:E663Q	E	+	1	0	ITPR1	4687438	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	7.856000	0.86956	2.368000	0.80403	0.655000	0.94253	GAA	ITPR1	-	NULL	ENSG00000150995		0.418	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0	106	0	G	NM_002222		4712438	1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	missense	15.89	90	17	SNP	1.000	C	C	4712438	G	C	4712438	3	2	160	1	0	0	0	0	1	0	0	0	7947	1291	45	5	2102	5	ITPR1	3	4712438	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09		4712438	193309992	73	40570											
RARB	5915	genome.wustl.edu	37	chr3	25502759	25502759	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttcctccccctcgagtgtAcaaaccctgcttcgtctgcc	6	11	6	18	2	1	0	0	0	1	0	5	1	3	0	5	0	4	2	5	0	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:25502759A>G	ENST00000404969.1	+	2	254	c.254A>G	c.(253-255)tAc>tGc	p.Y85C	RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.Y78C|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	85	Modulating.				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)	CCTCGAGTGTACAAACCCTGC	0.527																																																	0													108	109	108					3																	25502759		2203	4300	6503	SO:0001583	missense	0			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.254A>G	3.37:g.25502759A>G	ENSP00000385865:p.Tyr85Cys		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.Y85C	ENST00000404969.1	37	c.254		3	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713844	0.89112	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92446	-2.83;-3.04;-3.03	5.71	5.71	0.89125	Zinc finger, nuclear hormone receptor-type (2);	0.000000	0.85682	D	0.000000	D	0.95069	0.8403	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.95251	0.8360	10	0.59425	D	0.04	.	16.0288	0.80560	1.0:0.0:0.0:0.0	.	85;78	P10826;F1D8S6	RARB_HUMAN;.	C	85;85;85;78	ENSP00000373282:Y85C;ENSP00000385865:Y85C;ENSP00000332296:Y78C	ENSP00000332296:Y78C	Y	+	2	0	RARB	25477763	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.339000	0.96797	2.199000	0.70637	0.524000	0.50904	TAC	RARB	-	smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000077092		0.527	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		-	0	56	0	A	NM_000965, NM_016152		25502759	1	tier1	-	no_errors	ENST00000404969	ensembl	human	known	74_37	missense	6.98	80	6	SNP	1.000	G	G	25502759	A	G	25502759	3	3	160	1	0	0	0	0	1	0	0	0	13098	391	14	4	239	4	RARB	3	25502759	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	20790321	25502759	172519671	74	40571											
SCN11A	11280	genome.wustl.edu	37	chr3	38888478	38888478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaggccatcagagccacCgagtaccctagcggtgaagg	11	6	12	12	2	2	2	1	1	1	1	2	3	2	2	4	3	3	1	4	3	4	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:38888478C>T	ENST00000302328.3	-	26	5281	c.5083G>A	c.(5083-5085)Ggt>Agt	p.G1695S	SCN11A_ENST00000456224.3_Missense_Mutation_p.G1657S|SCN11A_ENST00000450244.1_Missense_Mutation_p.G1695S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1695					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)	TCAGAGCCACCGAGTACCCTA	0.453																																																	0													131	130	130					3																	38888478		2203	4300	6503	SO:0001583	missense	0			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.5083G>A	3.37:g.38888478C>T	ENSP00000307599:p.Gly1695Ser		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.G1695S	ENST00000302328.3	37	c.5083	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576756	0.65878	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96940	-4.18;-4.18;-4.15	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	M	0.87456	2.885	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99564	1.0969	10	0.87932	D	0	.	18.4574	0.90725	0.0:1.0:0.0:0.0	.	1695	Q9UI33	SCNBA_HUMAN	S	1695;1695;1657	ENSP00000307599:G1695S;ENSP00000400945:G1695S;ENSP00000416757:G1657S	ENSP00000307599:G1695S	G	-	1	0	SCN11A	38863482	1.000000	0.71417	0.095000	0.20976	0.005000	0.04900	7.767000	0.85331	2.335000	0.79485	0.650000	0.86243	GGT	SCN11A	-	NULL	ENSG00000168356		0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4		0	29	0	C	NM_014139		38888478	-1			no_errors	ENST00000302328	ensembl	human	known	74_37	missense	7.69	23	2	SNP	1.000	T	T	38888478	C	T	38888478	3	4	160	1	0	0	0	0	1	0	0	0	13958	652	23	1	296	1	SCN11A	3	38888478	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	13385719	38888478	159133952	75	40572											
CX3CR1	1524	genome.wustl.edu	37	chr3	39306949	39306949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcagagaaggagcaatGcatctccatcactcgtgtgg	10	9	10	12	1	3	1	2	0	1	1	5	3	3	2	2	2	2	2	2	2	2	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:39306949G>A	ENST00000541347.1	-	2	1291	c.1052C>T	c.(1051-1053)gCa>gTa	p.A351V	CX3CR1_ENST00000542107.1_Missense_Mutation_p.A351V|CX3CR1_ENST00000358309.3_Missense_Mutation_p.A383V|CX3CR1_ENST00000399220.2_Missense_Mutation_p.A351V	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	351					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.A351V(1)|p.A383V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AAGGAGCAATGCATCTCCATC	0.458																																																	2	Substitution - Missense(2)	lung(2)											150	143	145					3																	39306949		1965	4161	6126	SO:0001583	missense	0			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.1052C>T	3.37:g.39306949G>A	ENSP00000439140:p.Ala351Val		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.A383V	ENST00000541347.1	37	c.1148	CCDS43069.1	3	.	.	.	.	.	.	.	.	.	.	G	4.524	0.097327	0.08681	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.66995	-0.2;-0.24;-0.2;-0.2	5.37	-7.23	0.01480	.	1.662590	0.03111	N	0.162410	T	0.29061	0.0722	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30119	-0.9989	10	0.08599	T	0.76	.	3.9788	0.09486	0.1738:0.4114:0.2537:0.1611	.	351	P49238	CX3C1_HUMAN	V	351;359;383;351;351	ENSP00000382166:A351V;ENSP00000351059:A383V;ENSP00000439140:A351V;ENSP00000444928:A351V	ENSP00000351059:A383V	A	-	2	0	CX3CR1	39281953	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.347000	0.07750	-1.258000	0.02471	-0.885000	0.02943	GCA	CX3CR1	-	prints_Chemokine_CX3CR1	ENSG00000168329		0.458	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	HGNC	protein_coding	OTTHUMT00000343613.1		0	54	0	G	NM_001337		39306949	-1			no_errors	ENST00000358309	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.000	A	A	39306949	G	A	39306949	3	1	160	1	0	0	0	0	1	0	0	0	4084	1319	46	3	19	3	CX3CR1	3	39306949	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	418471	39306949	158715481	76	40573											
LIMD1	8994	genome.wustl.edu	37	chr3	45637430	45637430	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctgccccgtcatcctcGccagctggtctggacggttc	4	11	11	15	3	3	0	1	0	2	0	6	1	4	1	4	3	2	3	4	3	0	2	rs199819721		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:45637430G>C	ENST00000273317.4	+	1	1080	c.1059G>C	c.(1057-1059)tcG>tcC	p.S353S	LIMD1_ENST00000440097.1_Silent_p.S353S|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	353					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)		CGTCATCCTCGCCAGCTGGTC	0.617																																																	0													70	69	69					3																	45637430		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1059G>C	3.37:g.45637430G>C			Q17RQ1|Q9BQQ9|Q9NQ47	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S353	ENST00000273317.4	37	c.1059	CCDS2729.1	3																																																																																			LIMD1	-	NULL	ENSG00000144791		0.617	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	-	0	44	0	G	NM_014240		45637430	1	tier1	-	no_errors	ENST00000273317	ensembl	human	known	74_37	silent	8.20	56	5	SNP	0.000	C	C	45637430	G	C	45637430	2	2	160	1	0	0	0	0	0	0	0	1	8827	1074	38	5		5	LIMD1	3	45637430	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	6330481	45637430	152385000	77	40574											
ALS2CL	259173	genome.wustl.edu	37	chr3	46721932	46721932	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcaccaccgtcttgtcCgcctggaaggtgccctggta	6	9	10	16	2	2	0	1	0	1	0	3	1	3	1	6	3	1	1	6	3	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:46721932C>T	ENST00000318962.4	-	14	1619	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	ALS2CL_ENST00000415953.1_Silent_p.A512A	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	512					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)		CCGTCTTGTCCGCCTGGAAGG	0.642																																																	0													111	105	107					3																	46721932		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1536G>A	3.37:g.46721932C>T			Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,superfamily_DH-domain,smart_MORN	p.R511Q	ENST00000318962.4	37	c.1532	CCDS2743.1	3																																																																																			ALS2CL	-	NULL	ENSG00000178038		0.642	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	-	0	102	0	C	NM_147129		46721932	-1	tier1	-	no_errors	ENST00000434140	ensembl	human	known	74_37	missense	7.14	91	7	SNP	0.021	T	T	46721932	C	T	46721932	2	4	160	1	0	0	0	0	0	0	0	1	551	639	23	1		1	ALS2CL	3	46721932	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1084502	46721932	151300498	78	40575											
CYB561D2	11068	genome.wustl.edu	37	chr3	50388920	50388920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgagctctgcgtactgcttCtggcgctgccgcccaccttg	3	10	11	17	4	2	0	0	0	2	0	2	1	2	0	4	1	5	4	4	1	1	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:50388920C>T	ENST00000418577.1	+	1	632	c.56C>T	c.(55-57)tCt>tTt	p.S19F	CYB561D2_ENST00000419046.1_3'UTR|XXcos-LUCA11.5_ENST00000606589.1_Missense_Mutation_p.S19F|CYB561D2_ENST00000232508.5_Missense_Mutation_p.S19F|CYB561D2_ENST00000424512.1_Missense_Mutation_p.S19F|NPRL2_ENST00000493465.1_5'Flank|CYB561D2_ENST00000425346.1_Missense_Mutation_p.S19F|NPRL2_ENST00000232501.3_5'Flank			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	19	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)		CGTACTGCTTCTGGCGCTGCC	0.572																																																	0													105	91	95					3																	50388920		2203	4300	6503	SO:0001583	missense	0			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.56C>T	3.37:g.50388920C>T	ENSP00000391209:p.Ser19Phe		A8K552	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.S19F	ENST00000418577.1	37	c.56	CCDS2827.1	3	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106655	0.56291	.	.	ENSG00000114395	ENST00000425346;ENST00000424512;ENST00000232508;ENST00000418577	.	.	.	5.62	5.62	0.85841	Cytochrome b561/ferric reductase transmembrane (1);	0.113509	0.64402	D	0.000008	T	0.43077	0.1231	N	0.21194	0.64	0.49687	D	0.999815	B	0.12013	0.005	B	0.08055	0.003	T	0.25328	-1.0135	9	0.27082	T	0.32	.	13.5654	0.61815	0.0:0.9246:0.0:0.0754	.	19	O14569	C56D2_HUMAN	F	19	.	ENSP00000232508:S19F	S	+	2	0	CYB561D2	50363924	0.989000	0.36119	1.000000	0.80357	0.882000	0.50991	1.812000	0.38952	2.651000	0.90000	0.561000	0.74099	TCT	CYB561D2	-	pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000114395		0.572	CYB561D2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYB561D2	HGNC	protein_coding	OTTHUMT00000345973.1	-	0	67	0	C	NM_007022		50388920	1	tier1	-	no_errors	ENST00000232508	ensembl	human	known	74_37	missense	24.32	56	18	SNP	0.999	T	T	50388920	C	T	50388920	3	4	160	1	0	0	0	0	1	0	0	0	4130	913	32	3	58	3	CYB561D2	3	50388920	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	3666988	50388920	147633510	79	40576											
STAB1	23166	genome.wustl.edu	37	chr3	52550232	52550232	+	Silent	SNP	C	C	T	0	0	0	1	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	gaggtgtgtgagctgggccgCtacgggcccaactgcaccgg	6	6	17	12	3	0	1	0	1	0	0	0	2	0	1	3	4	4	3	3	4	2	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:52550232C>T	ENST00000321725.6	+	38	4198	c.4122C>T	c.(4120-4122)cgC>cgT	p.R1374R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1374	Laminin EGF-like 1. {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)		AGCTGGGCCGCTACGGGCCCA	0.697																																																	0													31	29	30					3																	52550232		2203	4298	6501	SO:0001819	synonymous_variant	0			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.4122C>T	3.37:g.52550232C>T			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R1374	ENST00000321725.6	37	c.4122	CCDS33768.1	3																																																																																			STAB1	-	smart_EGF_laminin	ENSG00000010327		0.697	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2		0	77	0	C	NM_015136		52550232	1			no_errors	ENST00000321725	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	T	T	52550232	C	T	52550232	2	4	160	1	0	0	0	0	0	0	0	1	15284	784	28	3		3	STAB1	3	52550232	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	2161312	52550232	145472198	80	40577											
ROBO2	6092	genome.wustl.edu	37	chr3	77623656	77623656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actatgtttttcaggttgatCgccaaccccagtttatccaa	10	14	6	11	1	1	1	1	1	0	0	3	1	2	1	4	1	1	3	4	1	4	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:77623656C>T	ENST00000461745.1	+	14	2878	c.1978C>T	c.(1978-1980)Cgc>Tgc	p.R660C	ROBO2_ENST00000332191.8_Missense_Mutation_p.R660C|ROBO2_ENST00000487694.3_Missense_Mutation_p.R676C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	660	Fibronectin type-III 2. {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)		TCAGGTTGATCGCCAACCCCA	0.428																																																	0													95	84	88					3																	77623656		1911	4110	6021	SO:0001583	missense	0			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.1978C>T	3.37:g.77623656C>T	ENSP00000417164:p.Arg660Cys		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R660C	ENST00000461745.1	37	c.1978	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153354	0.78114	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.58506	0.33;0.33;0.33	5.71	5.71	0.89125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000329	T	0.76263	0.3963	M	0.69823	2.125	0.47214	D	0.999358	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.71414	0.969;0.973;0.969	T	0.76495	-0.2938	9	0.56958	D	0.05	.	19.8397	0.96678	0.0:1.0:0.0:0.0	.	676;660;660	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	C	676;676;680;660;660;381	ENSP00000417335:R676C;ENSP00000417164:R660C;ENSP00000327536:R660C	ENSP00000327536:R660C	R	+	1	0	ROBO2	77706346	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	7.814000	0.86154	2.685000	0.91497	0.591000	0.81541	CGC	ROBO2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185008		0.428	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0	77	0	C	XM_031246		77623656	1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	T	T	77623656	C	T	77623656	3	4	160	1	0	0	0	0	1	0	0	0	13559	884	31	1	2034	1	ROBO2	3	77623656	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	25073424	77623656	120398774	81	40578											
GBE1	2632	genome.wustl.edu	37	chr3	81720028	81720028	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcacgagtacagatttattCtgctttggtgggatatacag	10	13	12	6	1	1	1	0	0	1	1	1	3	1	2	0	3	3	3	0	3	4	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:81720028C>T	ENST00000429644.2	-	3	1033	c.390G>A	c.(388-390)caG>caA	p.Q130Q	GBE1_ENST00000489715.1_Silent_p.Q89Q|GBE1_ENST00000477426.1_5'UTR	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	130					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAGATTTATTCTGCTTTGGTG	0.348									Glycogen Storage Disease, type IV																																								0													92	88	89					3																	81720028		1816	4101	5917	SO:0001819	synonymous_variant	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.390G>A	3.37:g.81720028C>T			B3KWV3|Q96EN0	Silent	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.Q130	ENST00000429644.2	37	c.390	CCDS54612.1	3																																																																																			GBE1	-	pfam_Glyco_hydro_13_N,superfamily_Ig_E-set	ENSG00000114480		0.348	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	-	0	57	0	C			81720028	-1	tier1	-	no_errors	ENST00000429644	ensembl	human	known	74_37	silent	12.26	93	13	SNP	0.001	T	T	81720028	C	T	81720028	2	4	160	1	0	0	0	0	0	0	0	1	6295	912	32	3		3	GBE1	3	81720028	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	4096372	81720028	116302402	82	40579											
CCDC48	79825	genome.wustl.edu	37	chr3	128720904	128720904	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggagctcaccttccgccagTtccacgcgcgcctctgtggc	4	8	11	18	5	2	0	1	0	1	0	4	1	4	1	5	2	1	2	5	2	0	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:128720904T>C	ENST00000480450.1	+	1	433	c.433T>C	c.(433-435)Ttc>Ctc	p.F145L	EFCC1_ENST00000436022.2_5'UTR|KIAA1257_ENST00000510149.1_Intron			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	145							calcium ion binding (GO:0005509)										CTTCCGCCAGTTCCACGCGCG	0.731																																																	0													2	4	4					3																	128720904		409	1222	1631	SO:0001583	missense	0			AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.433T>C	3.37:g.128720904T>C	ENSP00000420075:p.Phe145Leu		A8MYE2	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.F145L	ENST00000480450.1	37	c.433	CCDS3054.2	3	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596993	0.46318	.	.	ENSG00000114654	ENST00000480450	T	0.70282	-0.47	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000001	T	0.80166	0.4573	M	0.67397	2.05	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.81028	-0.1118	10	0.87932	D	0	-24.2998	9.8863	0.41264	0.0:0.0:0.0:1.0	.	145	Q9HA90	CCD48_HUMAN	L	145	ENSP00000420075:F145L	ENSP00000420075:F145L	F	+	1	0	CCDC48	130203594	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	3.699000	0.54778	1.196000	0.43129	0.254000	0.18369	TTC	EFCC1	-	NULL	ENSG00000114654		0.731	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EFCC1	HGNC	protein_coding	OTTHUMT00000352832.1	-	0	16	0	T	NM_024768		128720904	1	tier1	-	no_errors	ENST00000480450	ensembl	human	novel	74_37	missense	28.57	10	4	SNP	1.000	C	C	128720904	T	C	128720904	3	2	160	1	0	0	0	0	1	0	0	0	2826	1725	60	4	435	4	CCDC48	3	128720904	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	47000876	128720904	69301526	83	40580											
AMOTL2	51421	genome.wustl.edu	37	chr3	134090252	134090252	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggtgcaggactgtcccCgaggagtcttccagtgtcct	6	9	14	12	2	1	0	0	0	1	0	4	3	4	2	4	4	1	1	4	4	0	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:134090252C>T	ENST00000422605.2	-	2	190	c.24G>A	c.(22-24)tcG>tcA	p.S8S	AMOTL2_ENST00000513145.1_Silent_p.S8S|AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000514516.1_Silent_p.S66S|AMOTL2_ENST00000249883.5_Silent_p.S8S			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	8					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGACTGTCCCCGAGGAGTCTT	0.652																																																	0													32	35	34					3																	134090252		2195	4294	6489	SO:0001819	synonymous_variant	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.24G>A	3.37:g.134090252C>T			A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.S8	ENST00000422605.2	37	c.24		3																																																																																			AMOTL2	-	NULL	ENSG00000114019		0.652	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	-	0	56	0	C	NM_016201		134090252	-1	tier1	-	no_errors	ENST00000249883	ensembl	human	known	74_37	silent	11.11	48	6	SNP	0.577	T	T	134090252	C	T	134090252	2	4	160	1	0	0	0	0	0	0	0	1	584	639	23	1		1	AMOTL2	3	134090252	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	5369348	134090252	63932178	84	40581											
CHST2	9435	genome.wustl.edu	37	chr3	142840240	142840240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgaggtgttctttctctaCgagccagtgtggcatgtatg	6	13	12	10	2	2	0	0	0	2	0	3	2	2	0	2	2	2	3	2	2	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:142840240C>T	ENST00000309575.3	+	2	1966	c.582C>T	c.(580-582)taC>taT	p.Y194Y		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	194					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TCTTTCTCTACGAGCCAGTGT	0.602																																																	0													59	74	69					3																	142840240		2198	4299	6497	SO:0001819	synonymous_variant	0			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.582C>T	3.37:g.142840240C>T			D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.Y194	ENST00000309575.3	37	c.582	CCDS3129.1	3																																																																																			CHST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000175040		0.602	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST2	HGNC	protein_coding	OTTHUMT00000354850.1	-	0	71	0	C	NM_004267		142840240	1	tier1	-	no_errors	ENST00000309575	ensembl	human	known	74_37	silent	19.72	55	14	SNP	0.998	T	T	142840240	C	T	142840240	2	4	160	1	0	0	0	0	0	0	0	1	3411	547	19	1		1	CHST2	3	142840240	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	8749988	142840240	55182190	85	40582											
CPB1	1360	genome.wustl.edu	37	chr3	148552396	148552396	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgttctaaagcagaatGaactacaatacaagtaagtt	19	10	7	5	0	1	3	0	1	1	2	1	3	1	3	0	0	4	4	0	0	10	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:148552396G>T	ENST00000491148.1	+	4	593	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.E87*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	87						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAAGCAGAATGAACTACAATA	0.363																																																	0													87	83	84					3																	148552396		2203	4299	6502	SO:0001587	stop_gained	0			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.259G>T	3.37:g.148552396G>T	ENSP00000417222:p.Glu87*		O60834|Q53XJ0|Q96BQ8	Nonsense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.E87*	ENST00000491148.1	37	c.259	CCDS33874.1	3	.	.	.	.	.	.	.	.	.	.	G	8.895	0.954984	0.18431	.	.	ENSG00000153002	ENST00000491148;ENST00000462345;ENST00000282957;ENST00000468341	.	.	.	5.17	3.39	0.38822	.	0.774897	0.12953	N	0.425711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7869	0.40681	0.2831:0.0:0.7169:0.0	.	.	.	.	X	87	.	ENSP00000282957:E87X	E	+	1	0	CPB1	150035086	1.000000	0.71417	0.149000	0.22428	0.036000	0.12997	3.137000	0.50562	0.583000	0.29574	-0.373000	0.07131	GAA	CPB1	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept	ENSG00000153002		0.363	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	HGNC	protein_coding	OTTHUMT00000355928.1		0	61	0	G	NM_001871		148552396	1			no_errors	ENST00000282957	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	0.325	T	T	148552396	G	T	148552396	4	4	160	1	0	0	0	0	0	1	0	0	3803	1291	45	3	269	3	CPB1	3	148552396	Nonsense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	5712156	148552396	49470034	86	40583											
PEX5L	51555	genome.wustl.edu	37	chr3	179519819	179519819	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaaattgctgaccgcttCtctaagaaggtagaaaaaca	17	8	9	7	1	1	4	0	1	1	3	2	5	1	4	1	1	2	3	1	1	7	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:179519819C>T	ENST00000467460.1	-	15	2008	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	PEX5L_ENST00000472994.1_Splice_Site_p.E501K|PEX5L_ENST00000465751.1_Splice_Site_p.E536K|RP11-494H4.3_ENST00000602704.1_lincRNA|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Splice_Site_p.E368K|PEX5L_ENST00000392649.3_Splice_Site_p.E452K|PEX5L_ENST00000476138.1_Splice_Site_p.E517K|PEX5L_ENST00000263962.8_Splice_Site_p.E558K|PEX5L_ENST00000485199.1_Splice_Site_p.E525K|PEX5L_ENST00000464614.1_Splice_Site_p.E452K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	560					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTGACCGCTTCTCTAAGAAGG	0.368																																																	0													91	98	95					3																	179519819		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1677-1G>A	3.37:g.179519819C>T			B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E560K	ENST00000467460.1	37	c.1678	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832642	0.91036	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.46	5.46	0.80206	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.82226	0.4991	M	0.85041	2.73	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.996;1.0;0.998;0.995;0.999	D;D;D;D;D;D	0.81914	0.991;0.991;0.995;0.992;0.988;0.995	D	0.84898	0.0840	10	0.87932	D	0	-24.0554	19.3109	0.94187	0.0:1.0:0.0:0.0	.	501;536;452;558;525;560	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	K	560;558;525;558;452;368;517;448;501;452;536	ENSP00000419975:E560K;ENSP00000263962:E558K;ENSP00000418440:E525K;ENSP00000376420:E452K;ENSP00000418665:E368K;ENSP00000420555:E517K;ENSP00000418054:E501K;ENSP00000417270:E452K;ENSP00000419348:E536K	ENSP00000263962:E558K	E	-	1	0	PEX5L	181002513	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.555000	0.86185	0.591000	0.81541	GAA	PEX5L	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000114757		0.368	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	-	0	36	0	C	NM_016559	Missense_Mutation	179519819	-1	tier1	-	no_errors	ENST00000467460	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	179519819	C	T	179519819	5	4	160	1	0	0	0	0	0	0	1	0	11788	927	32	3	206	3	PEX5L	3	179519819	Splice_Site	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	30967423	179519819	18502611	87	40584											
C3orf21	152002	genome.wustl.edu	37	chr3	194790544	194790544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcactgtagccatggtccCtccaccaggtgcacagctgc	7	8	10	16	1	1	0	1	0	0	0	3	0	3	0	4	2	4	3	4	2	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:194790544C>T	ENST00000310380.6	-	4	1190	c.1082G>A	c.(1081-1083)aGg>aAg	p.R361K	XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000355729.4_Missense_Mutation_p.R158K|XXYLT1_ENST00000437101.1_Missense_Mutation_p.R158K|XXYLT1_ENST00000356740.5_Missense_Mutation_p.R155K|XXYLT1_ENST00000429994.1_Missense_Mutation_p.R215K	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	361						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GCCATGGTCCCTCCACCAGGT	0.587																																																	0													66	73	71					3																	194790544		2131	4247	6378	SO:0001583	missense	0			AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"Glycosyltransferase family 8 domain containing"	26639	protein-coding gene	gene with protein product		614552	"chromosome 3 open reading frame 21"	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.1082G>A	3.37:g.194790544C>T	ENSP00000309640:p.Arg361Lys		D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.R361K	ENST00000310380.6	37	c.1082	CCDS43188.1	3	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026408	0.35701	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740;ENST00000458652	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.89	4.08	0.47627	.	0.096175	0.64402	D	0.000001	T	0.12347	0.0300	N	0.17278	0.47	0.47511	D	0.999442	B;B;B	0.24258	0.022;0.005;0.1	B;B;B	0.23574	0.038;0.006;0.047	T	0.08351	-1.0726	10	0.06365	T	0.9	-15.8787	9.0224	0.36209	0.0:0.7567:0.0:0.2433	.	361;158;155	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	K	361;158;158;215;155;157	ENSP00000309640:R361K;ENSP00000409865:R158K;ENSP00000347967:R158K;ENSP00000399422:R215K;ENSP00000349179:R155K	ENSP00000309640:R361K	R	-	2	0	C3orf21	196271833	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.559000	0.36320	2.797000	0.96272	0.563000	0.77884	AGG	XXYLT1	-	NULL	ENSG00000173950		0.587	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XXYLT1	HGNC	protein_coding	OTTHUMT00000342290.1	-	0	51	0	C	NM_152531		194790544	-1	tier1	-	no_errors	ENST00000310380	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	194790544	C	T	194790544	3	4	160	1	0	0	0	0	1	0	0	0	2221	681	24	3	103	3	C3orf21	3	194790544	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	15270725	194790544	3231886	88	40585											
PCDH7	5099	genome.wustl.edu	37	chr4	30724297	30724297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgccgtccattgaaatccGcaagattgggcgcatccccc	8	8	10	15	4	0	2	0	1	0	1	3	2	3	2	5	1	1	2	5	1	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:30724297G>A	ENST00000361762.2	+	1	2261	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	PCDH7_ENST00000543491.1_Missense_Mutation_p.R418H	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	418					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATTGAAATCCGCAAGATTGGG	0.637																																																	0													43	44	44					4																	30724297		2203	4300	6503	SO:0001583	missense	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1253G>A	4.37:g.30724297G>A	ENSP00000355243:p.Arg418His		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R418H	ENST00000361762.2	37	c.1253	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533982	0.85812	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.20463	2.07;2.07	5.48	5.48	0.80851	Cadherin-like (1);	.	.	.	.	T	0.48132	0.1483	M	0.69463	2.115	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.994	T	0.46373	-0.9196	9	0.87932	D	0	.	19.3488	0.94376	0.0:0.0:1.0:0.0	.	418;371;418	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	H	418;418;371	ENSP00000355243:R418H;ENSP00000441802:R418H	ENSP00000330302:R371H	R	+	2	0	PCDH7	30333395	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.869000	0.99810	2.569000	0.86673	0.655000	0.94253	CGC	PCDH7	-	superfamily_Cadherin-like	ENSG00000169851		0.637	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1		0	15	0	G	NM_032457, NM_002589		30724297	1			no_errors	ENST00000543491	ensembl	human	known	74_37	missense	16.67	10	2	SNP	1.000	A	A	30724297	G	A	30724297	3	1	160	1	0	0	0	0	1	0	0	0	11555	1087	38	1	1255	1	PCDH7	4	30724297	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09		30724297	160429979	89	40586											
RASL11B	65997	genome.wustl.edu	37	chr4	53729462	53729462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtccggttcctcaccaaacGattcatcggtgactatgaaa	11	10	9	11	3	2	2	2	2	0	0	5	3	4	2	3	3	1	1	3	3	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:53729462G>A	ENST00000248706.3	+	2	388	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		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)			CTCACCAAACGATTCATCGGT	0.483																																																	0													123	100	108					4																	53729462		2203	4300	6503	SO:0001583	missense	0			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.170G>A	4.37:g.53729462G>A	ENSP00000248706:p.Arg57Gln			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R57Q	ENST00000248706.3	37	c.170	CCDS3490.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.112443	0.97296	.	.	ENSG00000128045	ENST00000248706	T	0.76448	-1.02	5.41	5.41	0.78517	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85762	0.5772	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84662	0.0707	10	0.40728	T	0.16	.	18.174	0.89756	0.0:0.0:1.0:0.0	.	57	Q9BPW5	RSLBB_HUMAN	Q	57	ENSP00000248706:R57Q	ENSP00000248706:R57Q	R	+	2	0	RASL11B	53424219	1.000000	0.71417	0.891000	0.34965	0.911000	0.54048	9.403000	0.97302	2.524000	0.85096	0.655000	0.94253	CGA	RASL11B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000128045		0.483	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL11B	HGNC	protein_coding	OTTHUMT00000219931.2	-	0	71	0	G	NM_023940		53729462	1	tier1	-	no_errors	ENST00000248706	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	A	A	53729462	G	A	53729462	3	1	160	1	0	0	0	0	1	0	0	0	13127	1058	37	1	176	1	RASL11B	4	53729462	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	23005165	53729462	137424814	90	40587											
CEP135	9662	genome.wustl.edu	37	chr4	56884024	56884024	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaaccttgagtttgagaggGtaagaaagataaattgtctt	16	12	10	3	0	1	4	0	2	1	3	1	5	1	4	1	1	1	2	1	1	6	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:56884024G>C	ENST00000257287.4	+	22	3136		c.e22+1			NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa						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)					GTTTGAGAGGGTAAGAAAGAT	0.328																																																	0													32	34	33					4																	56884024		2203	4300	6503	SO:0001630	splice_region_variant	0			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.3012+1G>C	4.37:g.56884024G>C			B2RMY0|O75130|Q58F25|Q9H8H7	Splice_Site	SNP	-	e21+1	ENST00000257287.4	37	c.3012+1	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386166	0.82902	.	.	ENSG00000174799	ENST00000257287	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP135	56578781	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.313000	0.96297	2.677000	0.91161	0.655000	0.94253	.	CEP135	-	-	ENSG00000174799		0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	-	0	13	0	G	NM_025009	Intron	56884024	1	tier1	-	no_errors	ENST00000257287	ensembl	human	known	74_37	splice_site	25.00	24	8	SNP	1.000	C	C	56884024	G	C	56884024	5	2	160	1	0	0	0	0	0	0	1	0	3254	1275	44	5	3095	5	CEP135	4	56884024	Splice_Site	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	3154562	56884024	134270252	91	40588											
EPHA5	2044	genome.wustl.edu	37	chr4	66230835	66230835	+	Silent	SNP	G	G	T	0	0	1	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	ctgcgttgcttttcagtataGcctactttaagggttttgat	7	18	9	7	1	1	1	1	1	0	0	1	1	1	1	1	1	4	4	1	1	4	10			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:66230835G>T	ENST00000273854.3	-	12	2736	c.2136C>A	c.(2134-2136)ggC>ggA	p.G712G	EPHA5_ENST00000354839.4_Silent_p.G690G|EPHA5_ENST00000432638.2_Silent_p.G549G|EPHA5_ENST00000511294.1_Silent_p.G713G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	712	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						TTTCAGTATAGCCTACTTTAA	0.393										TSP Lung(17;0.13)																																							0													206	203	204					4																	66230835		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2136C>A	4.37:g.66230835G>T			Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G712	ENST00000273854.3	37	c.2136	CCDS3513.1	4																																																																																			EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom	ENSG00000145242		0.393	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0	108	0	G	NM_004439		66230835	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	silent	6.47	130	9	SNP	0.803	T	T	66230835	G	T	66230835	2	4	160	1	0	0	0	0	0	0	0	1	5186	958	34	3		3	EPHA5	4	66230835	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	9346811	66230835	124923441	92	40589											
EPHA5	2044	genome.wustl.edu	37	chr4	66356133	66356133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttacagacacatactgcCgggctcctgggctcaagtcg	9	9	10	13	2	1	1	1	0	0	1	3	1	2	1	2	2	3	2	2	2	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:66356133C>T	ENST00000273854.3	-	5	1964	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q	EPHA5_ENST00000354839.4_Missense_Mutation_p.R455Q|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.R455Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	455	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						CACATACTGCCGGGCTCCTGG	0.458										TSP Lung(17;0.13)																																							0													88	73	78					4																	66356133		2203	4300	6503	SO:0001583	missense	0			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.1364G>A	4.37:g.66356133C>T	ENSP00000273854:p.Arg455Gln		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R455Q	ENST00000273854.3	37	c.1364	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026764	0.54683	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.73152	-0.72;-0.69;-0.69	6.08	6.08	0.98989	Fibronectin, type III (1);	0.000000	0.56097	D	0.000040	T	0.71151	0.3306	M	0.62266	1.93	0.43110	D	0.994814	B;B;B;B	0.27229	0.107;0.046;0.172;0.148	B;B;B;B	0.27887	0.038;0.011;0.084;0.019	T	0.65240	-0.6216	10	0.29301	T	0.29	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	455;455;455;455	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	455	ENSP00000273854:R455Q;ENSP00000346899:R455Q;ENSP00000427638:R455Q	ENSP00000273854:R455Q	R	-	2	0	EPHA5	66038728	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.176000	0.50863	2.894000	0.99253	0.591000	0.81541	CGG	EPHA5	-	pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3	ENSG00000145242		0.458	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2		0	51	0	C	NM_004439		66356133	-1			no_errors	ENST00000273854	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T	T	66356133	C	T	66356133	3	4	160	1	0	0	0	0	1	0	0	0	5186	652	23	1	1805	1	EPHA5	4	66356133	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	125298	66356133	124798143	93	40590											
PROL1	58503	genome.wustl.edu	37	chr4	71265050	71265050	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggctcttatttcatgtttCacagtaagttccctcaattc	8	18	5	10	0	4	0	3	0	1	0	6	0	5	0	1	1	0	4	1	1	3	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:71265050C>T	ENST00000399575.2	+	2	222	c.48C>T	c.(46-48)ttC>ttT	p.F16F	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	16					negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTTCATGTTTCACAGTAAGTT	0.303																																																	0													92	86	88					4																	71265050		1821	4066	5887	SO:0001819	synonymous_variant	0			S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.48C>T	4.37:g.71265050C>T			A8MZ07|P85047	Silent	SNP	NULL	p.F16	ENST00000399575.2	37	c.48	CCDS43235.1	4																																																																																			PROL1	-	NULL	ENSG00000171199		0.303	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	PROL1	HGNC	protein_coding	OTTHUMT00000362639.1	-	0	67	0	C	NM_021225		71265050	1	tier1	-	no_errors	ENST00000399575	ensembl	human	putative	74_37	silent	11.11	72	9	SNP	0.375	T	T	71265050	C	T	71265050	2	4	160	1	0	0	0	0	0	0	0	1	12596	825	29	3		3	PROL1	4	71265050	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	4908917	71265050	119889226	94	40591											
DCK	1633	genome.wustl.edu	37	chr4	71889385	71889385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaatttggccaaagccttGaattggatggaatcatttat	13	13	8	7	0	1	1	1	1	0	0	1	3	1	3	3	3	1	0	3	3	5	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:71889385G>A	ENST00000286648.5	+	4	908	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	DCK_ENST00000504730.1_Missense_Mutation_p.E171K|DCK_ENST00000504952.1_Missense_Mutation_p.E171K	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	171					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CCAAAGCCTTGAATTGGATGG	0.343																																																	0													73	77	76					4																	71889385		2203	4300	6503	SO:0001583	missense	0			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.511G>A	4.37:g.71889385G>A	ENSP00000286648:p.Glu171Lys		B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase	p.E171K	ENST00000286648.5	37	c.511	CCDS3548.1	4	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277562	0.40294	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	D;D;D	0.98762	-5.12;-4.69;-5.09	6.17	4.36	0.52297	.	0.133866	0.64402	D	0.000002	D	0.95389	0.8503	L	0.28504	0.86	0.58432	D	0.99999	B	0.14012	0.009	B	0.15052	0.012	D	0.92982	0.6407	10	0.10902	T	0.67	.	11.7388	0.51780	0.0661:0.1242:0.8098:0.0	.	171	P27707	DCK_HUMAN	K	171	ENSP00000286648:E171K;ENSP00000425578:E171K;ENSP00000421508:E171K	ENSP00000286648:E171K	E	+	1	0	DCK	72108249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.755000	0.62198	1.616000	0.50265	0.655000	0.94253	GAA	DCK	-	pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase	ENSG00000156136		0.343	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCK	HGNC	protein_coding	OTTHUMT00000252159.2	-	0	89	0	G			71889385	1	tier1	-	no_errors	ENST00000286648	ensembl	human	known	74_37	missense	9.52	95	10	SNP	1.000	A	A	71889385	G	A	71889385	3	1	160	1	0	0	0	0	1	0	0	0	4299	1291	45	3	525	3	DCK	4	71889385	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	624335	71889385	119264891	95	40592											
SLC4A4	8671	genome.wustl.edu	37	chr4	72215652	72215652	+	Missense_Mutation	SNP	T	T	C	0	1	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	gatcaagtttgaagaaaaagTggaacagggtggggaaagat	17	7	15	2	0	1	3	1	1	0	2	1	6	1	5	0	4	1	1	0	4	6	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:72215652T>C	ENST00000264485.5	+	5	530	c.413T>C	c.(412-414)gTg>gCg	p.V138A	SLC4A4_ENST00000512686.1_Missense_Mutation_p.V94A|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Missense_Mutation_p.V94A|SLC4A4_ENST00000351898.6_Missense_Mutation_p.V138A|SLC4A4_ENST00000425175.1_Missense_Mutation_p.V138A	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	138					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)	GAAGAAAAAGTGGAACAGGGT	0.433																																																	0													121	119	120					4																	72215652		2203	4300	6503	SO:0001583	missense	0			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.413T>C	4.37:g.72215652T>C	ENSP00000264485:p.Val138Ala		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.V138A	ENST00000264485.5	37	c.413	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	T	29.9	5.046104	0.93740	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.77	5.77	0.91146	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.92561	0.7637	H	0.95260	3.645	0.80722	D	1	D;D;D;P;D;D	0.64830	0.97;0.994;0.963;0.913;0.97;0.97	P;D;P;P;P;P	0.68765	0.868;0.96;0.839;0.539;0.868;0.859	D	0.94623	0.7815	10	0.87932	D	0	.	16.0919	0.81098	0.0:0.0:0.0:1.0	.	138;138;94;94;118;138	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	A	138;138;138;94;94	ENSP00000264485:V138A;ENSP00000393557:V138A;ENSP00000307349:V138A;ENSP00000422400:V94A;ENSP00000344272:V94A	ENSP00000264485:V138A	V	+	2	0	SLC4A4	72434516	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.013000	0.88655	2.190000	0.69967	0.528000	0.53228	GTG	SLC4A4	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	ENSG00000080493		0.433	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1		0	72	0	T	NM_003759		72215652	1			no_errors	ENST00000425175	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	C	C	72215652	T	C	72215652	3	2	160	1	0	0	0	0	1	0	0	0	14701	1696	59	4	548	4	SLC4A4	4	72215652	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	326267	72215652	118938624	96	40593											
FAM13A	10144	genome.wustl.edu	37	chr4	89941735	89941735	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccttcccgagctccacGggcactccactctcgaactt	6	9	7	19	4	1	0	0	0	1	0	6	2	5	0	5	1	2	2	5	1	1	2	rs545352886	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:89941735G>T	ENST00000264344.5	-	3	510	c.303C>A	c.(301-303)ccC>ccA	p.P101P	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000509094.1_Silent_p.P101P|FAM13A_ENST00000515600.1_Silent_p.P101P|FAM13A_ENST00000511976.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	101	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)			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						CGAGCTCCACGGGCACTCCAC	0.532																																																	0													84	77	79					4																	89941735		2203	4300	6503	SO:0001819	synonymous_variant	0			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.303C>A	4.37:g.89941735G>T			B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P101	ENST00000264344.5	37	c.303	CCDS34029.1	4																																																																																			FAM13A	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000138640		0.532	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1		0	54	0	G			89941735	-1			no_errors	ENST00000264344	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.001	T	T	89941735	G	T	89941735	2	4	160	1	0	0	0	0	0	0	0	1	5471	1103	39	2		2	FAM13A	4	89941735	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	17726083	89941735	101212541	97	40594											
ADAD1	132612	genome.wustl.edu	37	chr4	123332394	123332394	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggtacttttatagacaacTtctgctcttctacagcaaaa	13	14	5	9	0	3	1	0	0	3	1	3	1	3	1	0	1	5	3	0	1	8	8			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:123332394T>G	ENST00000296513.2	+	9	1051	c.866T>G	c.(865-867)cTt>cGt	p.L289R	ADAD1_ENST00000388724.2_Intron|ADAD1_ENST00000388725.2_Missense_Mutation_p.L271R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	289	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						TATAGACAACTTCTGCTCTTC	0.284																																																	0													54	55	55					4																	123332394		2203	4300	6503	SO:0001583	missense	0			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.866T>G	4.37:g.123332394T>G	ENSP00000296513:p.Leu289Arg		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.L289R	ENST00000296513.2	37	c.866	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865753	0.71949	.	.	ENSG00000164113	ENST00000296513;ENST00000388725	D;D	0.95412	-3.7;-3.7	5.74	5.74	0.90152	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.98169	0.9395	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99282	1.0896	10	0.87932	D	0	-20.1015	16.0304	0.80574	0.0:0.0:0.0:1.0	.	289	Q96M93	ADAD1_HUMAN	R	289;271	ENSP00000296513:L289R;ENSP00000373377:L271R	ENSP00000296513:L289R	L	+	2	0	ADAD1	123551844	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.846000	0.75399	2.193000	0.70182	0.482000	0.46254	CTT	ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.284	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	-	0	44	0	T	NM_139243		123332394	1	tier1	-	no_errors	ENST00000296513	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	G	G	123332394	T	G	123332394	3	3	160	1	0	0	0	0	1	0	0	0	231	1609	56	4	892	4	ADAD1	4	123332394	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	33390659	123332394	67821882	98	40595											
POU4F2	5458	genome.wustl.edu	37	chr4	147561444	147561444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcagcatggcccacgcGcacgggctgccgtcgcacat	6	5	13	17	6	1	0	1	0	0	0	2	0	1	0	2	2	2	5	2	2	0	0	rs148751103		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:147561444G>A	ENST00000281321.3	+	2	962	c.714G>A	c.(712-714)gcG>gcA	p.A238A	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	238					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TGGCCCACGCGCACGGGCTGC	0.706																																																	0								G		0,4370		0,0,2185	13	14	13		714	-2.5	1	4	dbSNP_134	13	1,8545		0,1,4272	no	coding-synonymous	POU4F2	NM_004575.2		0,1,6457	AA,AG,GG		0.0117,0.0,0.0077		238/410	147561444	1,12915	2185	4273	6458	SO:0001819	synonymous_variant	0			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.714G>A	4.37:g.147561444G>A			B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A238	ENST00000281321.3	37	c.714	CCDS34074.1	4																																																																																			POU4F2	-	NULL	ENSG00000151615		0.706	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1		0	31	0	G	NM_004575		147561444	1			no_errors	ENST00000281321	ensembl	human	known	74_37	silent	8.11	33	3	SNP	0.998	A	A	147561444	G	A	147561444	2	1	160	1	0	0	0	0	0	0	0	1	12318	1074	38	1		1	POU4F2	4	147561444	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	24229050	147561444	43592832	99	40596											
TRIM60	166655	genome.wustl.edu	37	chr4	165962598	165962598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatactggaacagattcCgaacctcttaaaatctgctc	12	13	5	11	1	3	1	0	0	3	1	5	3	4	2	2	1	4	1	2	1	6	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:165962598C>T	ENST00000512596.1	+	3	1590	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	TRIM60_ENST00000341062.5_Silent_p.S458S|TRIM60_ENST00000508504.1_Silent_p.S458S	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	458	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GAACAGATTCCGAACCTCTTA	0.333																																																	0													45	49	48					4																	165962598		2202	4298	6500	SO:0001819	synonymous_variant	0			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21162	protein-coding gene	gene with protein product			"ring finger protein 129", "tripartite motif-containing 60"	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1374C>T	4.37:g.165962598C>T			Q8NA35	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S458	ENST00000512596.1	37	c.1374	CCDS3808.1	4																																																																																			TRIM60	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000176979		0.333	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM60	HGNC	protein_coding	OTTHUMT00000364325.1	-	0	48	0	C	NM_152620		165962598	1	tier1	-	no_errors	ENST00000341062	ensembl	human	known	74_37	silent	15.56	76	14	SNP	0.000	T	T	165962598	C	T	165962598	2	4	160	1	0	0	0	0	0	0	0	1	16583	639	23	1		1	TRIM60	4	165962598	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	18401154	165962598	25191678	100	40597											
TLL1	7092	genome.wustl.edu	37	chr4	166996042	166996042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgctagacaaagatgaatGctctaaggataatggtggat	14	12	11	4	0	1	3	0	1	1	2	1	5	1	5	0	3	2	2	0	3	5	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:166996042G>T	ENST00000061240.2	+	17	2848	c.2201G>T	c.(2200-2202)tGc>tTc	p.C734F	TLL1_ENST00000507499.1_Missense_Mutation_p.C757F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	734	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)		AAAGATGAATGCTCTAAGGAT	0.393																																																	0													186	154	165					4																	166996042		2203	4300	6503	SO:0001583	missense	0			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.2201G>T	4.37:g.166996042G>T	ENSP00000061240:p.Cys734Phe		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.C734F	ENST00000061240.2	37	c.2201	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514798	0.64634	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	D;D	0.99966	-10.09;-10.09	5.59	5.59	0.84812	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	0.99984	0.9995	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.993	D	0.99663	1.0994	10	0.66056	D	0.02	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	757;734	E9PD25;O43897	.;TLL1_HUMAN	F	734;757	ENSP00000061240:C734F;ENSP00000426082:C757F	ENSP00000061240:C734F	C	+	2	0	TLL1	167215492	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	9.714000	0.98744	2.782000	0.95742	0.557000	0.71058	TGC	TLL1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_EG-like_dom	ENSG00000038295		0.393	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0	78	0	G			166996042	1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	missense	5.04	113	6	SNP	1.000	T	T	166996042	G	T	166996042	3	4	160	1	0	0	0	0	1	0	0	0	15992	1319	46	3	2267	3	TLL1	4	166996042	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1033444	166996042	24158234	101	40598											
C4orf41	60684	genome.wustl.edu	37	chr4	184615821	184615821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtttcttgtatatgtttCttacctgataaatacaaccg	12	17	5	7	1	2	1	0	1	2	0	2	1	2	1	2	0	3	3	2	0	8	8			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:184615821C>T	ENST00000334690.6	+	23	2775	c.2573C>T	c.(2572-2574)tCt>tTt	p.S858F	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S464F|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S858F	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	858					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GTATATGTTTCTTACCTGATA	0.299																																																	0													61	62	62					4																	184615821		2202	4296	6498	SO:0001583	missense	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2573C>T	4.37:g.184615821C>T	ENSP00000335371:p.Ser858Phe		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.S858F	ENST00000334690.6	37	c.2573	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287255	0.59867	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.29	5.29	0.74685	.	0.056264	0.64402	D	0.000001	T	0.62865	0.2463	L	0.44542	1.39	0.80722	D	1	P;D;B;P	0.53885	0.794;0.963;0.371;0.899	P;P;B;P	0.51742	0.58;0.678;0.358;0.667	T	0.62015	-0.6943	9	0.45353	T	0.12	.	19.1299	0.93400	0.0:1.0:0.0:0.0	.	589;464;858;858	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	F	858;858;858;464	.	ENSP00000335371:S858F	S	+	2	0	C4orf41	184852815	1.000000	0.71417	1.000000	0.80357	0.258000	0.26162	7.320000	0.79064	2.753000	0.94483	0.467000	0.42956	TCT	TRAPPC11	-	NULL	ENSG00000168538		0.299	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	-	0	112	0	C	NM_021942		184615821	1	tier1	-	no_errors	ENST00000334690	ensembl	human	known	74_37	missense	10.00	81	9	SNP	1.000	T	T	184615821	C	T	184615821	3	4	160	1	0	0	0	0	1	0	0	0	2277	913	32	3	2659	3	C4orf41	4	184615821	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	17619779	184615821	6538455	102	40599											
PDLIM3	27295	genome.wustl.edu	37	chr4	186427782	186427782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccggtacacgtccgactcGgggggcaccgaggctgtggg	6	6	17	12	5	0	0	0	0	0	0	3	2	2	0	3	6	1	3	3	6	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:186427782G>A	ENST00000284770.5	-	6	760	c.687C>T	c.(685-687)ccC>ccT	p.P229P	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.P181P	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	229					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGTCCGACTCGGGGGGCACCG	0.632																																																	0													54	49	51					4																	186427782		2203	4300	6503	SO:0001819	synonymous_variant	0			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.687C>T	4.37:g.186427782G>A			B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.P229	ENST00000284770.5	37	c.687	CCDS3844.1	4																																																																																			PDLIM3	-	NULL	ENSG00000154553		0.632	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	PDLIM3	HGNC	protein_coding	OTTHUMT00000360499.2	-	0	73	0	G	NM_014476		186427782	-1	tier1	-	no_errors	ENST00000284770	ensembl	human	known	74_37	silent	18.84	56	13	SNP	0.666	A	A	186427782	G	A	186427782	2	1	160	1	0	0	0	0	0	0	0	1	11720	1103	39	1		1	PDLIM3	4	186427782	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1811961	186427782	4726494	103	40600											
SEMA5A	9037	genome.wustl.edu	37	chr5	9202161	9202161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggacttccccaggacGggagcagttcaggcgagcct	10	5	15	11	2	1	0	1	0	0	0	2	4	2	3	3	5	2	2	3	5	1	2	rs372067295		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:9202161G>A	ENST00000382496.5	-	9	1503	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	280	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.R280S(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCCCCAGGACGGGAGCAGTTC	0.517													G|||	1	0.000199681	0	0	5008	,	,		16461	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						G	CYS/ARG	0,4406		0,0,2203	84	78	80		838	5.8	1	5		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEMA5A	NM_003966.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	280/1075	9202161	1,13005	2203	4300	6503	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.838C>T	5.37:g.9202161G>A	ENSP00000371936:p.Arg280Cys		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.R280C	ENST00000382496.5	37	c.838	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719364	0.68844	0.0	1.16E-4	ENSG00000112902	ENST00000382496	T	0.22539	1.95	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.27262	-1.0079	10	0.51188	T	0.08	.	17.6206	0.88080	0.0:0.0:1.0:0.0	.	280	Q13591	SEM5A_HUMAN	C	280	ENSP00000371936:R280C	ENSP00000371936:R280C	R	-	1	0	SEMA5A	9255161	1.000000	0.71417	0.973000	0.42090	0.262000	0.26303	4.771000	0.62318	2.760000	0.94817	0.655000	0.94253	CGT	SEMA5A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000112902		0.517	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2		0	47	0	G			9202161	-1			no_errors	ENST00000382496	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	A	A	9202161	G	A	9202161	3	1	160	1	0	0	0	0	1	0	0	0	14082	1116	39	1	2446	1	SEMA5A	5	9202161	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09		9202161	171713099	104	40601											
CTNND2	1501	genome.wustl.edu	37	chr5	11384850	11384850	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tgcttgctgtactgctcggaCgcgtggaccaggcgcttggt	4	11	15	11	4	0	0	0	0	0	0	1	2	0	2	1	4	4	5	1	4	1	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:11384850C>T	ENST00000304623.8	-	7	1293	c.1104G>A	c.(1102-1104)gcG>gcA	p.A368A	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Silent_p.A277A|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Silent_p.A368A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	368					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTGCTCGGACGCGTGGACCA	0.677																																																	0													56	48	51					5																	11384850		2203	4300	6503	SO:0001819	synonymous_variant	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1104G>A	5.37:g.11384850C>T			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A368	ENST00000304623.8	37	c.1104	CCDS3881.1	5																																																																																			CTNND2	-	NULL	ENSG00000169862		0.677	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	-	0	107	0	C	NM_001332		11384850	-1	tier1	-	no_errors	ENST00000304623	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.996	T	T	11384850	C	T	11384850	2	4	160	1	0	0	0	0	0	0	0	1	4029	523	19	1		1	CTNND2	5	11384850	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	2182689	11384850	169530410	105	40602											
CDH9	1007	genome.wustl.edu	37	chr5	26915774	26915774	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaacactggcagtgtataAgtcttttgtaaattttggct	11	15	10	5	0	1	0	0	0	1	0	1	1	1	1	0	3	1	4	0	3	5	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:26915774A>C	ENST00000231021.4	-	3	659	c.487T>G	c.(487-489)Tta>Gta	p.L163V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	163	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L163V(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCAGTGTATAAGTCTTTTGTA	0.353																																					Melanoma(8;187 585 15745 40864 52829)												1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											82	82	82					5																	26915774		2203	4300	6503	SO:0001583	missense	0			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.487T>G	5.37:g.26915774A>C	ENSP00000231021:p.Leu163Val		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L163V	ENST00000231021.4	37	c.487	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417066	0.25552	.	.	ENSG00000113100	ENST00000231021	T	0.60171	0.21	4.62	-1.42	0.08913	Cadherin (3);Cadherin-like (1);	0.751165	0.12175	N	0.492656	T	0.27697	0.0681	N	0.04162	-0.26	0.21220	N	0.999757	B	0.02656	0.0	B	0.04013	0.001	T	0.21042	-1.0257	9	.	.	.	.	7.2222	0.25994	0.2541:0.5634:0.1824:0.0	.	163	Q9ULB4	CADH9_HUMAN	V	163	ENSP00000231021:L163V	.	L	-	1	2	CDH9	26951531	0.000000	0.05858	0.980000	0.43619	0.999000	0.98932	-0.540000	0.06106	-0.065000	0.13021	0.528000	0.53228	TTA	CDH9	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113100		0.353	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0	23	0	A	NM_016279		26915774	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	47.50	21	19	SNP	0.355	C	C	26915774	A	C	26915774	3	2	160	1	0	0	0	0	1	0	0	0	3124	69	3	4	1922	4	CDH9	5	26915774	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	15530924	26915774	153999486	106	40603											
AMACR	23600	genome.wustl.edu	37	chr5	33989465	33989465	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaagtcagaaccggagtCacacaggcatctgtgccgtc	12	7	10	12	2	4	1	3	0	1	1	5	2	4	2	2	2	2	1	2	2	3	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:33989465C>A	ENST00000335606.6	-	5	970	c.882G>T	c.(880-882)gtG>gtT	p.V294V	AMACR_ENST00000502637.1_Silent_p.V279V|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000382085.3_Silent_p.V294V|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	294					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						GAACCGGAGTCACACAGGCAT	0.502																																																	0													103	93	96					5																	33989465		2203	4300	6503	SO:0001819	synonymous_variant	0			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.882G>T	5.37:g.33989465C>A			A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Silent	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.V294	ENST00000335606.6	37	c.882	CCDS3902.1	5																																																																																			AMACR	-	superfamily_CoA-Trfase_III_dom	ENSG00000242110		0.502	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	-	0	82	0	C	NM_014324		33989465	-1	tier1	-	no_errors	ENST00000335606	ensembl	human	known	74_37	silent	8.57	64	6	SNP	1.000	A	A	33989465	C	A	33989465	2	1	160	1	0	0	0	0	0	0	0	1	562	813	29	3		3	AMACR	5	33989465	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	7073691	33989465	146925795	107	40604											
RAI14	26064	genome.wustl.edu	37	chr5	34796083	34796083	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggacacgtggaatgcctCagggtcatgattacacatgg	13	8	12	8	1	2	1	2	1	0	0	2	3	2	3	1	4	2	0	1	4	3	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:34796083C>A	ENST00000265109.3	+	4	494	c.207C>A	c.(205-207)ctC>ctA	p.L69L	RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000515799.1_Silent_p.L72L|RAI14_ENST00000428746.2_Silent_p.L69L|RAI14_ENST00000503673.1_Silent_p.L69L|RAI14_ENST00000397449.1_Silent_p.L62L|RAI14_ENST00000512629.1_Silent_p.L69L|RAI14_ENST00000506376.1_Silent_p.L61L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	69						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L69L(1)		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)					TGGAATGCCTCAGGGTCATGA	0.438																																																	1	Substitution - coding silent(1)	lung(1)											217	189	199					5																	34796083		2203	4300	6503	SO:0001819	synonymous_variant	0			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.207C>A	5.37:g.34796083C>A			E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Nonsense_Mutation	SNP	NULL	p.S64*	ENST00000265109.3	37	c.191	CCDS34142.1	5																																																																																			RAI14	-	NULL	ENSG00000039560		0.438	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	-	0	47	0	C	NM_015577		34796083	1	tier1	-	no_errors	ENST00000508777	ensembl	human	known	74_37	nonsense	10.00	108	12	SNP	1.000	A	A	34796083	C	A	34796083	2	1	160	1	0	0	0	0	0	0	0	1	13053	813	29	3		3	RAI14	5	34796083	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	806618	34796083	146119177	108	40605											
DNAJC21	134218	genome.wustl.edu	37	chr5	34933927	34933927	+	Missense_Mutation	SNP	T	T	A	0	1	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	gtgactttaacagataaaaaTctggataatgccgcagaagc	16	9	9	7	1	1	3	0	1	1	2	1	4	1	4	1	1	3	1	1	1	6	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:34933927T>A	ENST00000342382.4	+	2	332	c.105T>A	c.(103-105)aaT>aaA	p.N35K	DNAJC21_ENST00000303525.7_Missense_Mutation_p.N35K|DNAJC21_ENST00000382021.2_Missense_Mutation_p.N35K			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	35	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CAGATAAAAATCTGGATAATG	0.378																																																	0													65	62	63					5																	34933927		2203	4300	6503	SO:0001583	missense	0				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.105T>A	5.37:g.34933927T>A	ENSP00000343728:p.Asn35Lys		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_Znf_C2H2_jaz,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_domain,prints_DnaJ_domain	p.N35K	ENST00000342382.4	37	c.105	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043809	0.75732	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.37058	1.22;1.22;1.22	5.34	0.266	0.15617	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.52223	-0.8604	10	0.39692	T	0.17	-36.4212	9.5987	0.39589	0.0:0.4743:0.0:0.5257	.	35;35	Q5F1R6;Q5F1R6-2	DJC21_HUMAN;.	K	35	ENSP00000343728:N35K;ENSP00000371451:N35K;ENSP00000306289:N35K	ENSP00000306289:N35K	N	+	3	2	DNAJC21	34969684	0.981000	0.34729	0.999000	0.59377	0.973000	0.67179	0.384000	0.20668	0.031000	0.15407	0.402000	0.26972	AAT	DNAJC21	-	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	ENSG00000168724		0.378	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1		0	25	0	T	NM_194283		34933927	1			no_errors	ENST00000382021	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	A	A	34933927	T	A	34933927	3	1	160	1	0	0	0	0	1	0	0	0	4654	1432	50	5	111	5	DNAJC21	5	34933927	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	137844	34933927	145981333	109	40606											
MOCS2	4338	genome.wustl.edu	37	chr5	52404407	52404407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacgcttttatttcttgagGcacagaaatggtctctgaac	11	13	8	9	1	2	3	0	2	2	1	3	3	2	3	0	2	2	2	0	2	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:52404407G>T	ENST00000361377.4	-	2	126	c.85C>A	c.(85-87)Cct>Act	p.P29T	MOCS2_ENST00000450852.3_Missense_Mutation_p.P29T|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000582677.1_Missense_Mutation_p.P29T|MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000584946.1_Missense_Mutation_p.P29T|MOCS2_ENST00000527216.1_Missense_Mutation_p.P24T|MOCS2_ENST00000508922.1_Missense_Mutation_p.P29T|CTD-2366F13.1_ENST00000502171.2_RNA|CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000510818.2_Missense_Mutation_p.P29T					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)				ATTTCTTGAGGCACAGAAATG	0.348																																																	0													119	108	111					5																	52404407		1846	4107	5953	SO:0001583	missense	0			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	ENST00000361377.4:c.85C>A	5.37:g.52404407G>T	ENSP00000355160:p.Pro29Thr			Missense_Mutation	SNP	pfam_ThiS/MoaD,superfamily_Mopterin_synth/thiamin_S_b,tigrfam_Mopterin_su_1	p.P29T	ENST00000361377.4	37	c.85	CCDS47205.1	5	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092478	0.76756	.	.	ENSG00000164172	ENST00000361377;ENST00000510818;ENST00000450852;ENST00000508922	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.86	5.86	0.93980	Molybdopterin synthase/thiamin biosynthesis sulphur carrier, beta-grasp (1);Beta-grasp fold, ferredoxin-type (1);	.	.	.	.	T	0.80819	0.4696	.	.	.	0.28736	N	0.902245	D	0.65815	0.995	P	0.62491	0.903	T	0.76146	-0.3066	8	0.59425	D	0.04	.	13.0815	0.59117	0.0738:0.0:0.9262:0.0	.	29	O96033	MOC2A_HUMAN	T	29	ENSP00000355160:P29T;ENSP00000424267:P29T;ENSP00000411022:P29T;ENSP00000426274:P29T	ENSP00000355160:P29T	P	-	1	0	MOCS2	52440164	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.678000	0.54627	2.776000	0.95493	0.655000	0.94253	CCT	MOCS2	-	pfam_ThiS/MoaD,superfamily_Mopterin_synth/thiamin_S_b,tigrfam_Mopterin_su_1	ENSG00000164172		0.348	MOCS2-004	KNOWN	alternative_3_UTR|NMD_exception|basic|exp_conf|CCDS	protein_coding	MOCS2	HGNC	protein_coding	OTTHUMT00000367796.3	-	0	35	0	G	NM_183418		52404407	-1	tier1	-	no_errors	ENST00000361377	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	52404407	G	T	52404407	3	4	160	1	0	0	0	0	1	0	0	0	9729	1203	42	3	692	3	MOCS2	5	52404407	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	17470480	52404407	128510853	110	40607											
PIK3R1	5295	genome.wustl.edu	37	chr5	67592130	67592130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatggcacttttcttgtccGggagagcagtaaacagggct	10	10	13	8	1	1	2	0	0	1	2	2	3	2	2	1	3	2	4	1	3	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:67592130G>A	ENST00000521381.1	+	15	2562	c.1946G>A	c.(1945-1947)cGg>cAg	p.R649Q	PIK3R1_ENST00000274335.5_Missense_Mutation_p.R649Q|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R657Q|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R286Q|PIK3R1_ENST00000320694.8_Missense_Mutation_p.R349Q|PIK3R1_ENST00000336483.5_Missense_Mutation_p.R379Q|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R649Q	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	649	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		R -> W (in SHORTS; impairs interaction between PIK3R1 and IRS1 and reduces AKT1- mediated insulin signaling). {ECO:0000269|PubMed:23810379}.		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)|p.R649Q(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)	TTTCTTGTCCGGGAGAGCAGT	0.443			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	3	Substitution - Missense(1)|Whole gene deletion(1)|Unknown(1)	large_intestine(2)|lung(1)											162	156	158					5																	67592130		2203	4300	6503	SO:0001583	missense	0			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.1946G>A	5.37:g.67592130G>A	ENSP00000428056:p.Arg649Gln		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.R657Q	ENST00000521381.1	37	c.1970	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.802108	0.96960	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	D;D;D;D;D;D;D	0.99287	-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69	5.15	5.15	0.70609	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	H	0.99555	4.625	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	0.96861	0.9632	10	0.87932	D	0	-13.6484	18.8075	0.92043	0.0:0.0:1.0:0.0	.	379;349;649	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	Q	649;649;657;649;349;379;286	ENSP00000428056:R649Q;ENSP00000429277:R649Q;ENSP00000379855:R657Q;ENSP00000274335:R649Q;ENSP00000323512:R349Q;ENSP00000338554:R379Q;ENSP00000430098:R286Q	ENSP00000274335:R649Q	R	+	2	0	PIK3R1	67627886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.689000	0.91719	0.650000	0.86243	CGG	PIK3R1	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000145675		0.443	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2		0	88	0	G	NM_181504		67592130	1			no_errors	ENST00000396611	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A	A	67592130	G	A	67592130	3	1	160	1	0	0	0	0	1	0	0	0	11957	1116	39	1	2130	1	PIK3R1	5	67592130	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	15187723	67592130	113323130	111	40608											
BHMT	635	genome.wustl.edu	37	chr5	78411636	78411636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagattgtgattggagatgGagggtttgtctttgcactgg	8	14	16	3	0	1	3	0	1	1	2	1	6	1	4	0	4	1	2	0	4	0	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:78411636G>T	ENST00000274353.5	+	2	187	c.80G>T	c.(79-81)gGa>gTa	p.G27V	BHMT_ENST00000524080.1_Missense_Mutation_p.G27V|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	27	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	ATTGGAGATGGAGGGTTTGTC	0.473																																																	0													169	158	162					5																	78411636		2203	4300	6503	SO:0001583	missense	0			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.80G>T	5.37:g.78411636G>T	ENSP00000274353:p.Gly27Val		Q9UNI9	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.G27V	ENST00000274353.5	37	c.80	CCDS4046.1	5	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906638	0.92107	.	.	ENSG00000145692	ENST00000274353;ENST00000524080;ENST00000436224	T;T	0.79845	-1.31;-1.31	5.39	5.39	0.77823	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94445	0.7662	10	0.87932	D	0	-25.701	19.5039	0.95106	0.0:0.0:1.0:0.0	.	27;27	E5RJH0;Q93088	.;BHMT1_HUMAN	V	27	ENSP00000274353:G27V;ENSP00000428240:G27V	ENSP00000274353:G27V	G	+	2	0	BHMT	78447392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.689000	0.91719	0.557000	0.71058	GGA	BHMT	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	ENSG00000145692		0.473	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT	HGNC	protein_coding	OTTHUMT00000226961.1	-	0	130	0	G	NM_001713		78411636	1	tier1	-	no_errors	ENST00000274353	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	78411636	G	T	78411636	3	4	160	1	0	0	0	0	1	0	0	0	1427	1174	41	3	86	3	BHMT	5	78411636	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	10819506	78411636	102503624	112	40609											
RASA1	5921	genome.wustl.edu	37	chr5	86681138	86681138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctccatctcctattgctGcaagaacactgatattagtg	11	14	6	10	0	2	2	0	1	2	1	4	2	2	2	2	0	3	2	2	0	5	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:86681138G>T	ENST00000274376.6	+	22	3343	c.2779G>T	c.(2779-2781)Gca>Tca	p.A927S	RASA1_ENST00000456692.2_Missense_Mutation_p.A750S|RASA1_ENST00000512763.1_Missense_Mutation_p.A760S|RASA1_ENST00000506290.1_Missense_Mutation_p.A761S	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	927	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)		TCCTATTGCTGCAAGAACACT	0.353																																																	0													124	111	115					5																	86681138		2202	4300	6502	SO:0001583	missense	0				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.2779G>T	5.37:g.86681138G>T	ENSP00000274376:p.Ala927Ser		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.A927S	ENST00000274376.6	37	c.2779	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614460	0.66672	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.56	5.56	0.83823	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.152316	0.64402	D	0.000020	T	0.64405	0.2595	N	0.11560	0.145	0.58432	D	0.999994	B;B;B;B;B	0.14012	0.001;0.003;0.001;0.0;0.009	B;B;B;B;B	0.18561	0.009;0.022;0.013;0.004;0.022	T	0.57476	-0.7805	10	0.29301	T	0.29	.	19.4995	0.95089	0.0:0.0:1.0:0.0	.	761;760;761;750;927	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	S	927;750;760;761	ENSP00000274376:A927S;ENSP00000411221:A750S;ENSP00000422008:A760S;ENSP00000420905:A761S	ENSP00000274376:A927S	A	+	1	0	RASA1	86716894	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.709000	0.84645	2.777000	0.95525	0.591000	0.81541	GCA	RASA1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000145715		0.353	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	-	0	49	0	G	NM_002890		86681138	1	tier1	-	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	86681138	G	T	86681138	3	4	160	1	0	0	0	0	1	0	0	0	13105	1319	46	3	2877	3	RASA1	5	86681138	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	8269502	86681138	94234122	113	40610											
PCDHA2	56146	genome.wustl.edu	37	chr5	140175718	140175718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	acatgtcacctgctccctgaCgccccacgtccctttcaagc	7	9	6	19	2	2	1	2	1	0	0	4	1	4	1	5	0	2	1	5	0	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:140175718C>T	ENST00000526136.1	+	1	1169	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T390M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T390M	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCCTGACGCCCCACGTC	0.577																																																	0													140	118	125					5																	140175718		2203	4300	6503	SO:0001583	missense	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1169C>T	5.37:g.140175718C>T	ENSP00000431748:p.Thr390Met		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T390M	ENST00000526136.1	37	c.1169	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	c	1.751	-0.489180	0.04352	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.53206	0.63;0.63;0.63	3.98	-2.04	0.07343	Cadherin (4);Cadherin-like (1);	1.714320	0.04214	U	0.332275	T	0.29458	0.0734	L	0.37630	1.12	0.09310	N	1	P;P;P	0.42973	0.796;0.486;0.796	B;B;B	0.34824	0.18;0.19;0.119	T	0.24225	-1.0166	10	0.37606	T	0.19	.	1.4679	0.02410	0.2105:0.3159:0.2955:0.1781	.	390;390;390	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	M	390	ENSP00000430584:T390M;ENSP00000367372:T390M;ENSP00000431748:T390M	ENSP00000367372:T390M	T	+	2	0	PCDHA2	140155902	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-3.347000	0.00503	-0.066000	0.12998	0.650000	0.86243	ACG	PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204969		0.577	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	-	0	47	0	C	NM_018905		140175718	1	tier1	-	no_errors	ENST00000526136	ensembl	human	known	74_37	missense	15.52	49	9	SNP	0.000	T	T	140175718	C	T	140175718	3	4	160	1	0	0	0	0	1	0	0	0	11563	536	19	1	1171	1	PCDHA2	5	140175718	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	53494580	140175718	40739542	114	40611											
PCDHB6	56130	genome.wustl.edu	37	chr5	140530476	140530476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	actcaggctaacgctgatcgCgctggatggcgggtctccgc	6	8	14	13	5	2	1	1	1	1	0	4	2	2	2	1	4	1	3	1	4	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:140530476C>T	ENST00000231136.1	+	1	638	c.638C>T	c.(637-639)gCg>gTg	p.A213V	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A77V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCTGATCGCGCTGGATGGC	0.602																																																	0													53	57	56					5																	140530476		2203	4300	6503	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.638C>T	5.37:g.140530476C>T	ENSP00000231136:p.Ala213Val		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A213V	ENST00000231136.1	37	c.638	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912504	0.72983	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.77750	-1.12;1.54	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90407	0.6997	M	0.90483	3.12	0.53005	D	0.999969	D	0.89917	1.0	D	0.97110	1.0	D	0.92540	0.6041	9	0.87932	D	0	.	18.3285	0.90261	0.0:1.0:0.0:0.0	.	213	Q9Y5E3	PCDB6_HUMAN	V	77;213	ENSP00000438466:A77V;ENSP00000231136:A213V	ENSP00000231136:A213V	A	+	2	0	PCDHB6	140510660	1.000000	0.71417	0.470000	0.27216	0.370000	0.29829	6.039000	0.70972	2.394000	0.81467	0.561000	0.74099	GCG	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113211		0.602	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	-	0	45	0	C	NM_018939		140530476	1	tier1	-	no_errors	ENST00000231136	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T	T	140530476	C	T	140530476	3	4	160	1	0	0	0	0	1	0	0	0	11585	768	27	1	640	1	PCDHB6	5	140530476	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	354758	140530476	40384784	115	40612											
PCDHB14	56122	genome.wustl.edu	37	chr5	140605446	140605446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggaaatcgagaactttcGaaatagctttggacttaaca	14	10	11	6	2	0	1	0	0	0	1	2	5	0	3	0	3	3	1	0	3	5	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:140605446G>A	ENST00000239449.4	+	1	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R637Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	790					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTTTCGAAATAGCTTT	0.348																																					Ovarian(141;50 1831 27899 33809 37648)												0													65	72	70					5																	140605446		2203	4300	6503	SO:0001583	missense	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2369G>A	5.37:g.140605446G>A	ENSP00000239449:p.Arg790Gln		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R790Q	ENST00000239449.4	37	c.2369	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	11.35	1.613348	0.28712	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.13196	2.61;2.61	4.3	3.41	0.39046	.	.	.	.	.	T	0.13927	0.0337	L	0.59436	1.845	0.09310	N	1	B	0.20988	0.05	B	0.11329	0.006	T	0.18209	-1.0344	9	0.38643	T	0.18	.	7.2492	0.26140	0.0949:0.1742:0.7309:0.0	.	790	Q9Y5E9	PCDBE_HUMAN	Q	637;790	ENSP00000444518:R637Q;ENSP00000239449:R790Q	ENSP00000239449:R790Q	R	+	2	0	PCDHB14	140585630	0.000000	0.05858	0.001000	0.08648	0.169000	0.22640	-0.484000	0.06528	0.892000	0.36259	0.585000	0.79938	CGA	PCDHB14	-	NULL	ENSG00000120327		0.348	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2		0	80	0	G	NM_018934		140605446	1			no_errors	ENST00000239449	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.002	A	A	140605446	G	A	140605446	3	1	160	1	0	0	0	0	1	0	0	0	11578	1058	37	1	2371	1	PCDHB14	5	140605446	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	74970	140605446	40309814	116	40613											
PCDHGA5	56110	genome.wustl.edu	37	chr5	140744135	140744135	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agctttttgccctgaacccgCgaagcggcagcttggtcacc	7	9	11	14	3	1	1	1	1	0	0	1	2	1	1	3	2	5	3	3	2	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:140744135C>T	ENST00000518069.1	+	1	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAACCCGCGAAGCGGCAG	0.607																																																	0													50	60	56					5																	140744135		2195	4298	6493	SO:0001587	stop_gained	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.238C>T	5.37:g.140744135C>T	ENSP00000429834:p.Arg80*		Q2M3F5|Q9Y5D2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R80*	ENST00000518069.1	37	c.238	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	10.41	1.341214	0.24339	.	.	ENSG00000253485	ENST00000518069	.	.	.	5.38	-4.75	0.03239	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1789	0.42955	0.3747:0.1841:0.4412:0.0	.	.	.	.	X	80	.	ENSP00000429834:R80X	R	+	1	2	PCDHGA5	140724319	0.000000	0.05858	0.007000	0.13788	0.071000	0.16799	-0.696000	0.05104	-0.524000	0.06400	-0.318000	0.08688	CGA	PCDHGA5	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253485		0.607	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	-	0	30	0	C	NM_018918		140744135	1	tier1	-	no_errors	ENST00000518069	ensembl	human	known	74_37	nonsense	17.31	42	9	SNP	0.001	T	T	140744135	C	T	140744135	4	4	160	1	0	0	0	0	0	1	0	0	11596	760	27	1	240	1	PCDHGA5	5	140744135	Nonsense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	138689	140744135	40171125	117	40614											
PCDHGA6	56109	genome.wustl.edu	37	chr5	140755519	140755519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagtgggcctgcacacGggcgaggtgcgcacggcgcg	5	6	17	13	6	1	0	1	0	1	0	2	1	1	0	1	4	2	2	1	4	0	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:140755519G>A	ENST00000517434.1	+	1	1869	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	623	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)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCACACGGGCGAGGTGC	0.692																																																	0													43	51	49					5																	140755519		2203	4298	6501	SO:0001819	synonymous_variant	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1869G>A	5.37:g.140755519G>A			A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T623	ENST00000517434.1	37	c.1869	CCDS54926.1	5																																																																																			PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253731		0.692	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	-	0	207	0	G	NM_018919		140755519	1	tier1	-	no_errors	ENST00000517434	ensembl	human	known	74_37	silent	8.91	92	9	SNP	0.135	A	A	140755519	G	A	140755519	2	1	160	1	0	0	0	0	0	0	0	1	11597	1103	39	1		1	PCDHGA6	5	140755519	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	11384	140755519	40159741	118	40615											
FGF18	8817	genome.wustl.edu	37	chr5	170883662	170883662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccaagaaggggcggccGcggaagggccccaagacccg	10	2	15	14	4	1	2	1	0	0	2	1	3	1	3	5	5	0	0	5	5	4	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:170883662G>A	ENST00000274625.5	+	5	1021	c.477G>A	c.(475-477)ccG>ccA	p.P159P		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	159					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|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)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGGCGGCCGCGGAAGGGCC	0.592																																																	0													69	79	76					5																	170883662		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.477G>A	5.37:g.170883662G>A			D3DQL7|Q6UWF1	Silent	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.P159	ENST00000274625.5	37	c.477	CCDS4378.1	5																																																																																			FGF18	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000156427		0.592	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF18	HGNC	protein_coding	OTTHUMT00000252857.2	-	0	45	0	G	NM_033649, NM_003862		170883662	1	tier1	-	no_errors	ENST00000274625	ensembl	human	known	74_37	silent	13.16	33	5	SNP	0.041	A	A	170883662	G	A	170883662	2	1	160	1	0	0	0	0	0	0	0	1	5868	1074	38	1		1	FGF18	5	170883662	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	30128143	170883662	10031598	119	40616											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178540957	178540957	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcataggggctcggtcGtcgagggattaggttgggtg	5	13	17	6	3	1	0	1	0	0	0	4	2	1	1	0	6	0	2	0	6	2	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:178540957G>A	ENST00000251582.7	-	22	3648	c.3547C>T	c.(3547-3549)Cga>Tga	p.R1183*		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1183					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)		GGGCTCGGTCGTCGAGGGATT	0.468																																																	0													178	177	177					5																	178540957		2203	4300	6503	SO:0001587	stop_gained	0			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.3547C>T	5.37:g.178540957G>A	ENSP00000251582:p.Arg1183*			Nonsense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.R1183*	ENST00000251582.7	37	c.3547	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.782205	0.98486	.	.	ENSG00000087116	ENST00000251582	.	.	.	5.05	4.08	0.47627	.	0.000000	0.43747	D	0.000524	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0369	0.53431	0.0:0.0:0.7227:0.2773	.	.	.	.	X	1183	.	ENSP00000251582:R1183X	R	-	1	2	ADAMTS2	178473563	0.998000	0.40836	1.000000	0.80357	0.569000	0.35902	2.082000	0.41605	2.308000	0.77769	0.561000	0.74099	CGA	ADAMTS2	-	NULL	ENSG00000087116		0.468	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0	119	0	G	NM_014244		178540957	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	nonsense	6.58	70	5	SNP	0.948	A	A	178540957	G	A	178540957	4	1	160	1	0	0	0	0	0	1	0	0	265	1153	40	1	92	1	ADAMTS2	5	178540957	Nonsense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	7657295	178540957	2374303	120	40617											
HIST1H2BB	3018	genome.wustl.edu	37	chr6	26043546	26043546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtaactgccttagtgccctCggacacagcatgcttagcca	9	9	10	13	1	0	0	0	0	0	0	1	1	0	1	3	2	6	3	3	2	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:26043546C>T	ENST00000357905.2	-	1	339	c.340G>A	c.(340-342)Gag>Aag	p.E114K	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	114					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						TTAGTGCCCTCGGACACAGCA	0.527																																																	0													39	39	39					6																	26043546		2203	4300	6503	SO:0001583	missense	0			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.340G>A	6.37:g.26043546C>T	ENSP00000350580:p.Glu114Lys		Q4KN36	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E114K	ENST00000357905.2	37	c.340	CCDS4575.1	6	.	.	.	.	.	.	.	.	.	.	c	13.76	2.332360	0.41297	.	.	ENSG00000196226	ENST00000357905	T	0.48201	0.82	5.08	5.08	0.68730	Histone-fold (2);	0.000000	0.64402	U	0.000019	T	0.40767	0.1130	M	0.78801	2.425	0.50171	D	0.999857	B	0.14805	0.011	B	0.08055	0.003	T	0.43589	-0.9382	10	0.52906	T	0.07	.	17.8155	0.88632	0.0:1.0:0.0:0.0	.	114	P33778	H2B1B_HUMAN	K	114	ENSP00000350580:E114K	ENSP00000350580:E114K	E	-	1	0	HIST1H2BB	26151525	1.000000	0.71417	0.998000	0.56505	0.371000	0.29859	7.756000	0.85195	2.498000	0.84270	0.467000	0.42956	GAG	HIST1H2BB	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000196226		0.527	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BB	HGNC	protein_coding	OTTHUMT00000040083.1	-	0	97	0	C	NM_021062		26043546	-1	tier1	-	no_errors	ENST00000357905	ensembl	human	known	74_37	missense	9.17	109	11	SNP	1.000	T	T	26043546	C	T	26043546	3	4	160	1	0	0	0	0	1	0	0	0	7168	893	31	1	44	1	HIST1H2BB	6	26043546	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09		26043546	145071521	121	40618											
HIST1H4K	8362	genome.wustl.edu	37	chr6	27799259	27799259	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gtactttacggtggcgcttaGcgccgcctttgccaagaccc	6	10	11	14	4	0	1	0	0	0	1	0	1	0	1	4	2	4	2	4	2	4	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:27799259G>A	ENST00000357549.2	-	1	46	c.47C>T	c.(46-48)gCt>gTt	p.A16V		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	16					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						GTGGCGCTTAGCGCCGCCTTT	0.647																																																	0													7	9	9					6																	27799259		1917	3842	5759	SO:0001583	missense	0			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"Histones / Replication-dependent"	4784	protein-coding gene	gene with protein product		602825	"H4 histone family, member D", "histone 1, H4k"	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.47C>T	6.37:g.27799259G>A	ENSP00000350159:p.Ala16Val		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.A16V	ENST00000357549.2	37	c.47	CCDS4631.1	6	.	.	.	.	.	.	.	.	.	.	.	15.82	2.945046	0.53079	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.05	4.05	0.47172	.	0.000000	0.52532	U	0.000073	T	0.68016	0.2955	.	.	.	0.39741	D	0.97174	.	.	.	.	.	.	T	0.73563	-0.3943	6	0.62326	D	0.03	.	15.6683	0.77252	0.0:0.0:1.0:0.0	.	.	.	.	V	16	.	ENSP00000350159:A16V	A	-	2	0	HIST1H4K	27907238	1.000000	0.71417	0.993000	0.49108	0.203000	0.24098	8.763000	0.91715	1.981000	0.57761	0.644000	0.83932	GCT	HIST1H4K	-	superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4	ENSG00000197914		0.647	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4K	HGNC	protein_coding	OTTHUMT00000040156.1		0	85	0	G	NM_003541		27799259	-1			no_errors	ENST00000357549	ensembl	human	known	74_37	missense	7.22	90	7	SNP	1.000	A	A	27799259	G	A	27799259	3	1	160	1	0	0	0	0	1	0	0	0	7202	971	34	3	268	3	HIST1H4K	6	27799259	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1755713	27799259	143315808	122	40619											
NKAPL	222698	genome.wustl.edu	37	chr6	28227442	28227442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggatatcgctaccatcGtcactgctatgcagaagaac	12	10	9	10	2	1	2	1	0	0	2	3	3	1	3	1	1	4	3	1	1	6	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:28227442G>A	ENST00000343684.3	+	1	345	c.293G>A	c.(292-294)cGt>cAt	p.R98H	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	98								p.R98H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGCTACCATCGTCACTGCTAT	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											62	62	62					6																	28227442		2203	4300	6503	SO:0001583	missense	0			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.293G>A	6.37:g.28227442G>A	ENSP00000345716:p.Arg98His		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.R98H	ENST00000343684.3	37	c.293	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	G	5.124	0.208527	0.09757	.	.	ENSG00000189134	ENST00000343684	T	0.14893	2.47	4.13	1.63	0.23807	.	0.822182	0.10356	N	0.684591	T	0.01592	0.0051	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47837	-0.9086	10	0.27082	T	0.32	-2.1284	4.4533	0.11631	0.6962:0.1979:0.1059:0.0	.	98	Q5M9Q1	NKAPL_HUMAN	H	98	ENSP00000345716:R98H	ENSP00000345716:R98H	R	+	2	0	NKAPL	28335421	0.000000	0.05858	0.241000	0.24154	0.017000	0.09413	0.251000	0.18257	0.231000	0.21079	-0.294000	0.09567	CGT	NKAPL	-	NULL	ENSG00000189134		0.572	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	-	0	37	0	G			28227442	1	tier1	-	no_errors	ENST00000343684	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.293	A	A	28227442	G	A	28227442	3	1	160	1	0	0	0	0	1	0	0	0	10479	1145	40	1	295	1	NKAPL	6	28227442	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	428183	28227442	142887625	123	40620											
HLA-A	3105	genome.wustl.edu	37	chr6	29912284	29912284	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcttttcccagagctgtcTtcccagcccaccatccccat	6	11	4	20	0	2	1	0	0	2	1	5	1	5	1	7	0	2	1	7	0	0	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:29912284T>G	ENST00000396634.1	+	7	1244	c.903T>G	c.(901-903)tcT>tcG	p.S301S	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Silent_p.S301S|HLA-A_ENST00000376806.5_Silent_p.S301S			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	301	Connecting peptide.				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						CAGAGCTGTCTTCCCAGCCCA	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)																																							0													83	78	80					6																	29912284		1511	2709	4220	SO:0001819	synonymous_variant	0	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.903T>G	6.37:g.29912284T>G			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.S301	ENST00000396634.1	37	c.903	CCDS34373.1	6																																																																																			HLA-A	-	NULL	ENSG00000206503		0.592	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	-	0	163	0	T	NM_002116		29912284	1	tier1	-	no_errors	ENST00000376806	ensembl	human	known	74_37	silent	7.50	148	12	SNP	0.000	G	G	29912284	T	G	29912284	2	3	160	1	0	0	0	0	0	0	0	1	7222	1596	56	4		4	HLA-A	6	29912284	Silent	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	1684842	29912284	141202783	124	40621											
TRIM39	56658	genome.wustl.edu	37	chr6	30298569	30298569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctcaggaaaaactgcaGaagtgtctggagcccctgga	12	6	11	12	0	2	1	1	0	1	1	2	4	2	4	4	3	3	1	4	3	3	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:30298569G>T	ENST00000396547.1	+	3	625	c.465G>T	c.(463-465)caG>caT	p.Q155H	TRIM39_ENST00000396551.3_Missense_Mutation_p.Q155H|TRIM39_ENST00000376656.4_Missense_Mutation_p.Q155H|TRIM39_ENST00000540416.1_Missense_Mutation_p.Q155H|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.Q67H|TRIM39_ENST00000376659.5_Missense_Mutation_p.Q155H|TRIM39_ENST00000396548.1_Missense_Mutation_p.Q155H			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	155					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)			ovary(3)	3						AAAAACTGCAGAAGTGTCTGG	0.498																																																	0													67	70	69					6																	30298569		2203	4300	6503	SO:0001583	missense	0			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.465G>T	6.37:g.30298569G>T	ENSP00000379796:p.Gln155His		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q155H	ENST00000396547.1	37	c.465	CCDS34377.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.17|17.17	3.321895|3.321895	0.60634|0.60634	.|.	.|.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167|ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556|ENST00000420746	T;T;T;T;T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34|.	5.54|5.54	2.48|2.48	0.30137|0.30137	.|.	0.291090|.	0.26424|.	N|.	0.024454|.	T|T	0.27900|0.27900	0.0687|0.0687	L|L	0.49455|0.49455	1.56|1.56	0.33045|0.33045	D|D	0.531999|0.531999	D;P;D|.	0.64830|.	0.994;0.454;0.987|.	D;B;D|.	0.75484|.	0.986;0.168;0.951|.	T|T	0.09975|0.09975	-1.0650|-1.0650	10|5	0.62326|.	D|.	0.03|.	.|.	5.9896|5.9896	0.19454|0.19454	0.3428:0.0:0.6572:0.0|0.3428:0.0:0.6572:0.0	.|.	69;155;155|.	F5H2V3;Q9HCM9;Q9HCM9-2|.	.;TRI39_HUMAN;.|.	H|I	155;155;155;155;155;69;155;155;155;155;67|85	ENSP00000379800:Q155H;ENSP00000365844:Q155H;ENSP00000439400:Q155H;ENSP00000406019:Q155H;ENSP00000379797:Q155H;ENSP00000365847:Q155H;ENSP00000379796:Q155H;ENSP00000424048:Q67H|.	ENSP00000365844:Q155H|.	Q|R	+|+	3|2	2|0	TRIM39-RPP21;TRIM39|TRIM39	30406548|30406548	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.698000|2.698000	0.47068|0.47068	0.834000|0.834000	0.34852|0.34852	-0.355000|-0.355000	0.07637|0.07637	CAG|AGA	TRIM39	-	NULL	ENSG00000204599		0.498	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2	-	0	61	0	G	NM_172016		30298569	1	tier1	-	no_errors	ENST00000376656	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T	T	30298569	G	T	30298569	3	4	160	1	0	0	0	0	1	0	0	0	16561	933	33	3	471	3	TRIM39	6	30298569	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	386285	30298569	140816498	125	40622											
HLA-B	3106	genome.wustl.edu	37	chr6	31323208	31323208	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctggaaggttctatctcCtgctggtctggtctccacaa	6	14	9	12	0	5	0	0	0	5	0	7	1	5	1	2	4	1	2	2	4	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:31323208C>A	ENST00000412585.2	-	4	809	c.781G>T	c.(781-783)Gga>Tga	p.G261*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	261	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						GTTCTATCTCCTGCTGGTCTG	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													96	82	87					6																	31323208		2203	4300	6503	SO:0001587	stop_gained	0	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.781G>T	6.37:g.31323208C>A	ENSP00000399168:p.Gly261*		Q29764	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.G261*	ENST00000412585.2	37	c.781	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	11.51	1.661376	0.29515	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	.	.	.	3.16	3.16	0.36331	.	0.172435	0.27185	U	0.020521	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.5215	0.33279	0.0:0.7604:0.2395:0.0	.	.	.	.	X	261;140;140	.	ENSP00000399168:G261X	G	-	1	0	HLA-B	31431187	0.000000	0.05858	0.217000	0.23759	0.062000	0.15995	0.376000	0.20535	1.804000	0.52760	0.442000	0.29010	GGA	HLA-B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000234745		0.587	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	-	0	134	0	C	NM_005514		31323208	-1	tier1	-	no_errors	ENST00000412585	ensembl	human	known	74_37	nonsense	9.52	114	12	SNP	0.252	A	A	31323208	C	A	31323208	4	1	160	1	0	0	0	0	0	1	0	0	7223	690	24	3	323	3	HLA-B	6	31323208	Nonsense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1024639	31323208	139791859	126	40623											
MDGA1	266727	genome.wustl.edu	37	chr6	37618132	37618132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcggcaggcgatccctcGcgcacggtcaccacggccct	6	5	12	18	6	1	0	1	0	0	0	4	1	2	0	3	4	1	3	3	4	0	0	rs371324625		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:37618132G>A	ENST00000434837.3	-	8	2540	c.1362C>T	c.(1360-1362)cgC>cgT	p.R454R	MDGA1_ENST00000505425.1_Silent_p.R454R|MDGA1_ENST00000297153.7_Silent_p.R454R|MDGA1_ENST00000510077.1_5'Flank	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	454	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						GCGATCCCTCGCGCACGGTCA	0.687																																																	0								G		0,4150		0,0,2075	8	10	9		1362	-4	0.9	6		9	3,8309		0,3,4153	no	coding-synonymous	MDGA1	NM_153487.3		0,3,6228	AA,AG,GG		0.0361,0.0,0.0241		454/956	37618132	3,12459	2075	4156	6231	SO:0001819	synonymous_variant	0			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.1362C>T	6.37:g.37618132G>A			A6NHG0|Q8NBE3	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.R454	ENST00000434837.3	37	c.1362	CCDS47417.1	6																																																																																			MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112139		0.687	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0	71	0	G			37618132	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	silent	5.66	100	6	SNP	0.230	A	A	37618132	G	A	37618132	2	1	160	1	0	0	0	0	0	0	0	1	9444	1074	38	1		1	MDGA1	6	37618132	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	6294924	37618132	133496935	127	40624											
DNAH8	1769	genome.wustl.edu	37	chr6	38718294	38718294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatcactgatacagcaaatGaatccaaagataatgtcaga	19	8	7	7	0	2	4	2	2	0	2	3	5	3	4	1	0	2	1	1	0	6	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:38718294G>A	ENST00000359357.3	+	7	939	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E229K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E446K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	229					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						TACAGCAAATGAATCCAAAGA	0.308																																																	0													129	128	128					6																	38718294		2203	4300	6503	SO:0001583	missense	0			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.685G>A	6.37:g.38718294G>A	ENSP00000352312:p.Glu229Lys		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E229K	ENST00000359357.3	37	c.685		6	.	.	.	.	.	.	.	.	.	.	G	33	5.250677	0.95305	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.59083	0.29;0.29;0.29	5.82	5.82	0.92795	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80924	-0.1165	10	0.87932	D	0	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	229	Q96JB1	DYH8_HUMAN	K	434;434;229;229	ENSP00000333363:E434K;ENSP00000352312:E229K;ENSP00000402294:E229K	ENSP00000333363:E434K	E	+	1	0	DNAH8	38826272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.468000	0.73551	2.756000	0.94617	0.563000	0.77884	GAA	DNAH8	-	pfam_Dynein_heavy_dom-1	ENSG00000124721		0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0	48	0	G	NM_001206927		38718294	1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	8.00	92	8	SNP	1.000	A	A	38718294	G	A	38718294	3	1	160	1	0	0	0	0	1	0	0	0	4621	1291	45	3	703	3	DNAH8	6	38718294	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1100162	38718294	132396773	128	40625											
KHDRBS2	202559	genome.wustl.edu	37	chr6	62995779	62995779	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ctaccttctgccaaaaggcgCgacgcatgcacaaaagatgg	13	6	10	12	3	1	1	0	0	1	1	1	2	1	1	2	2	3	2	2	2	5	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:62995779C>T	ENST00000281156.4	-	1	353	c.75G>A	c.(73-75)tcG>tcA	p.S25S		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCAAAAGGCGCGACGCATGCA	0.567																																																	0													114	87	97					6																	62995779		2203	4300	6503	SO:0001819	synonymous_variant	0			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.75G>A	6.37:g.62995779C>T			A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.S25	ENST00000281156.4	37	c.75	CCDS4963.1	6																																																																																			KHDRBS2	-	NULL	ENSG00000112232		0.567	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2	-	0	37	0	C	NM_152688		62995779	-1	tier1	-	no_errors	ENST00000281156	ensembl	human	known	74_37	silent	12.07	50	7	SNP	0.999	T	T	62995779	C	T	62995779	2	4	160	1	0	0	0	0	0	0	0	1	8174	755	27	1		1	KHDRBS2	6	62995779	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	24277485	62995779	108119288	129	40626											
PHF3	23469	genome.wustl.edu	37	chr6	64422152	64422152	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttctgcagggtctttgacGagtcttagtctcagaggtaa	9	14	11	7	1	4	2	1	1	4	1	5	3	4	2	0	2	1	2	0	2	2	4	rs369856119		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:64422152G>A	ENST00000262043.3	+	16	5008	c.4668G>A	c.(4666-4668)acG>acA	p.T1556T	PHF3_ENST00000393387.1_Silent_p.T1556T			Q92576	PHF3_HUMAN	PHD finger protein 3	1556					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)			GGTCTTTGACGAGTCTTAGTC	0.358																																					GBM(135;136 1820 29512 34071 46235)												0								G		1,4401	2.1+/-5.4	0,1,2200	70	67	68		4668	-9.5	0.5	6		68	0,8596		0,0,4298	no	coding-synonymous	PHF3	NM_015153.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		1556/2040	64422152	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	0			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.4668G>A	6.37:g.64422152G>A			A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.T1556	ENST00000262043.3	37	c.4668	CCDS4966.1	6																																																																																			PHF3	-	NULL	ENSG00000118482		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2		0	20	0	G			64422152	1			no_errors	ENST00000262043	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.032	A	A	64422152	G	A	64422152	2	1	160	1	0	0	0	0	0	0	0	1	11875	1045	37	1		1	PHF3	6	64422152	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1426373	64422152	106692915	130	40627											
RIMS1	22999	genome.wustl.edu	37	chr6	72806711	72806711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaaataggggaagaagCgcggcgttaccagggcgagc	14	3	17	7	4	0	2	0	0	0	2	0	5	0	3	1	4	3	1	1	4	6	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:72806711C>T	ENST00000521978.1	+	3	305	c.305C>T	c.(304-306)gCg>gTg	p.A102V	RIMS1_ENST00000348717.5_Missense_Mutation_p.A102V|RIMS1_ENST00000518273.1_Missense_Mutation_p.A102V|RIMS1_ENST00000522291.1_Missense_Mutation_p.A102V|RIMS1_ENST00000264839.7_Missense_Mutation_p.A102V|RIMS1_ENST00000517960.1_Missense_Mutation_p.A102V|RIMS1_ENST00000491071.2_Missense_Mutation_p.A102V|RIMS1_ENST00000520567.1_Missense_Mutation_p.A102V	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	102	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGGAAGAAGCGCGGCGTTAC	0.438																																																	0													82	77	79					6																	72806711		1931	4135	6066	SO:0001583	missense	0			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.305C>T	6.37:g.72806711C>T	ENSP00000428417:p.Ala102Val		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.A102V	ENST00000521978.1	37	c.305	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989241	0.93106	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.093571	0.45361	D	0.000364	T	0.20941	0.0504	L	0.55481	1.735	0.80722	D	1	P	0.47350	0.894	B	0.36092	0.217	T	0.06607	-1.0817	10	0.51188	T	0.08	-17.8794	20.0804	0.97772	0.0:1.0:0.0:0.0	.	102	Q86UR5	RIMS1_HUMAN	V	102	ENSP00000430101:A102V;ENSP00000275037:A102V;ENSP00000264839:A102V;ENSP00000429959:A102V;ENSP00000430408:A102V;ENSP00000430502:A102V;ENSP00000430932:A102V;ENSP00000428417:A102V	ENSP00000264839:A102V	A	+	2	0	RIMS1	72863432	1.000000	0.71417	0.964000	0.40570	0.745000	0.42441	7.798000	0.85924	2.738000	0.93877	0.655000	0.94253	GCG	RIMS1	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000079841		0.438	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	66	0	C			72806711	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	T	T	72806711	C	T	72806711	3	4	160	1	0	0	0	0	1	0	0	0	13412	768	27	1	315	1	RIMS1	6	72806711	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	8384559	72806711	98308356	131	40628											
RIMS1	22999	genome.wustl.edu	37	chr6	72892087	72892087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcccgtggagggggccGtcgaagaacgggagcgcaaa	10	2	18	11	6	0	1	0	0	0	1	1	4	0	3	2	4	3	2	2	4	3	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:72892087G>A	ENST00000521978.1	+	6	913	c.913G>A	c.(913-915)Gtc>Atc	p.V305I	RIMS1_ENST00000348717.5_Missense_Mutation_p.V305I|RIMS1_ENST00000518273.1_Missense_Mutation_p.V305I|RIMS1_ENST00000522291.1_Missense_Mutation_p.V305I|RIMS1_ENST00000264839.7_Missense_Mutation_p.V305I|RIMS1_ENST00000517960.1_Missense_Mutation_p.V305I|RIMS1_ENST00000491071.2_Missense_Mutation_p.V305I|RIMS1_ENST00000520567.1_Missense_Mutation_p.V305I	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	305					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)				GGAGGGGGCCGTCGAAGAACG	0.597																																																	0													31	38	36					6																	72892087		1893	4117	6010	SO:0001583	missense	0			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.913G>A	6.37:g.72892087G>A	ENSP00000428417:p.Val305Ile		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.V305I	ENST00000521978.1	37	c.913	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	G	2.852	-0.238072	0.05944	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.14022	2.54;2.69;2.62;2.69;2.69;2.69;2.69;2.61	4.77	1.78	0.24846	.	1.436020	0.04501	N	0.381335	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.27229	0.172	B	0.15870	0.014	T	0.41945	-0.9480	10	0.45353	T	0.12	1.1488	1.4719	0.02418	0.283:0.144:0.4259:0.1472	.	305	Q86UR5	RIMS1_HUMAN	I	305	ENSP00000430101:V305I;ENSP00000275037:V305I;ENSP00000264839:V305I;ENSP00000429959:V305I;ENSP00000430408:V305I;ENSP00000430502:V305I;ENSP00000430932:V305I;ENSP00000428417:V305I	ENSP00000264839:V305I	V	+	1	0	RIMS1	72948808	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.025000	0.13577	0.426000	0.26116	0.462000	0.41574	GTC	RIMS1	-	NULL	ENSG00000079841		0.597	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1		0	93	0	G			72892087	1			no_errors	ENST00000521978	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.000	A	A	72892087	G	A	72892087	3	1	160	1	0	0	0	0	1	0	0	0	13412	1145	40	1	935	1	RIMS1	6	72892087	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	85376	72892087	98222980	132	40629											
ELOVL4	6785	genome.wustl.edu	37	chr6	80631343	80631343	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcctgaaaatgctcaccTtgtcctcctgcaacccactt	9	13	4	15	0	1	1	1	1	0	0	4	1	4	1	5	0	3	2	5	0	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:80631343T>G	ENST00000369816.4	-	4	840	c.540A>C	c.(538-540)caA>caC	p.Q180H		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	180					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|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)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AATGCTCACCTTGTCCTCCTG	0.383																																																	0													134	122	126					6																	80631343		2203	4300	6503	SO:0001630	splice_region_variant	0			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"cancer/testis antigen 118"	605512	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.541+1A>C	6.37:g.80631343T>G			B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.Q180H	ENST00000369816.4	37	c.540	CCDS4992.1	6	.	.	.	.	.	.	.	.	.	.	T	15.04	2.716549	0.48622	.	.	ENSG00000118402	ENST00000369816	T	0.22336	1.96	5.28	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.13670	0.0331	L	0.37800	1.135	0.58432	D	0.999991	D	0.71674	0.998	D	0.74674	0.984	T	0.13818	-1.0495	10	0.02654	T	1	-13.7443	9.5335	0.39209	0.0:0.0858:0.0:0.9142	.	180	Q9GZR5	ELOV4_HUMAN	H	180	ENSP00000358831:Q180H	ENSP00000358831:Q180H	Q	-	3	2	ELOVL4	80688062	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.166000	0.42406	0.962000	0.38057	0.482000	0.46254	CAA	ELOVL4	-	pfam_GNS1_SUR4	ENSG00000118402		0.383	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL4	HGNC	protein_coding	OTTHUMT00000041315.1	-	0	57	0	T		Missense_Mutation	80631343	-1	tier1	-	no_errors	ENST00000369816	ensembl	human	known	74_37	missense	8.51	86	8	SNP	1.000	G	G	80631343	T	G	80631343	5	3	160	1	0	0	0	0	0	0	1	0	5092	1623	56	4	416	4	ELOVL4	6	80631343	Splice_Site	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	7739256	80631343	90483724	133	40630											
TTK	7272	genome.wustl.edu	37	chr6	80751906	80751906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagacttttgaaaaaaaaaGgggaaaaaaatgatttgcag	21	8	9	3	0	0	3	0	2	0	1	0	4	0	4	0	2	1	1	0	2	8	3	rs539988632		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:80751906G>A	ENST00000369798.2	+	22	2672	c.2561G>A	c.(2560-2562)aGg>aAg	p.R854K	TTK_ENST00000230510.3_Missense_Mutation_p.R853K|TTK_ENST00000509894.1_Missense_Mutation_p.R853K	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	854					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.R838K(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)		GAAAAAAAAAGGGGAAAAAAA	0.308													G|||	1	0.000199681	0	0	5008	,	,		15015	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	ovary(1)											48	51	50					6																	80751906		2203	4286	6489	SO:0001583	missense	0				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.2561G>A	6.37:g.80751906G>A	ENSP00000358813:p.Arg854Lys		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R854K	ENST00000369798.2	37	c.2561	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.513029	0.00975	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.65732	-0.17;-0.17;-0.17	5.6	4.71	0.59529	.	0.346876	0.32134	N	0.006539	T	0.26484	0.0647	L	0.36672	1.1	0.09310	N	1	B;B	0.21520	0.057;0.057	B;B	0.17722	0.019;0.019	T	0.22103	-1.0226	10	0.05721	T	0.95	.	14.7704	0.69671	0.0:0.0:0.8545:0.1455	.	854;853	P33981;A8K8U5	TTK_HUMAN;.	K	853;853;854	ENSP00000422936:R853K;ENSP00000230510:R853K;ENSP00000358813:R854K	ENSP00000230510:R853K	R	+	2	0	TTK	80808625	0.994000	0.37717	0.003000	0.11579	0.004000	0.04260	2.330000	0.43885	1.339000	0.45563	0.561000	0.74099	AGG	TTK	-	NULL	ENSG00000112742		0.308	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	-	0	48	0	G			80751906	1	tier1	-	no_errors	ENST00000369798	ensembl	human	known	74_37	missense	8.57	63	6	SNP	0.089	A	A	80751906	G	A	80751906	3	1	160	1	0	0	0	0	1	0	0	0	16769	1000	35	3	2643	3	TTK	6	80751906	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	120563	80751906	90363161	134	40631											
IBTK	25998	genome.wustl.edu	37	chr6	82924426	82924426	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatatttatgtgcagggaaGagtctattgccaacttgaaa	14	13	9	5	0	1	2	0	1	1	1	1	3	1	3	1	1	3	1	1	1	7	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:82924426G>C	ENST00000306270.7	-	12	2271	c.1722C>G	c.(1720-1722)ctC>ctG	p.L574L	IBTK_ENST00000503631.1_Intron|IBTK_ENST00000510291.1_Silent_p.L574L	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	574	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		GTGCAGGGAAGAGTCTATTGC	0.353																																																	0													72	72	72					6																	82924426		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1722C>G	6.37:g.82924426G>C			Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.L574	ENST00000306270.7	37	c.1722	CCDS34490.1	6																																																																																			IBTK	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000005700		0.353	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2		0	23	0	G	NM_015525		82924426	-1			no_errors	ENST00000306270	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.998	C	C	82924426	G	C	82924426	2	2	160	1	0	0	0	0	0	0	0	1	7503	929	33	5		5	IBTK	6	82924426	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2172520	82924426	88190641	135	40632											
DOPEY1	23033	genome.wustl.edu	37	chr6	83847209	83847209	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccccagatgatgatgttCaacaggtagtatttgacctg	10	12	10	9	0	1	4	1	3	0	1	2	4	2	4	3	1	1	4	3	1	3	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:83847209C>T	ENST00000349129.2	+	21	3708	c.3448C>T	c.(3448-3450)Caa>Taa	p.Q1150*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1131*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1141*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1150					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGATGATGTTCAACAGGTAGT	0.438																																																	0													76	75	75					6																	83847209		2203	4299	6502	SO:0001587	stop_gained	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3448C>T	6.37:g.83847209C>T	ENSP00000195654:p.Gln1150*		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.Q1150*	ENST00000349129.2	37	c.3448	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	C	43	10.152723	0.99348	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.69	5.69	0.88448	.	0.055189	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	19.8089	0.96540	0.0:1.0:0.0:0.0	.	.	.	.	X	1150;1131;1131	.	ENSP00000237163:Q1131X	Q	+	1	0	DOPEY1	83903928	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.272000	0.51616	2.677000	0.91161	0.460000	0.39030	CAA	DOPEY1	-	superfamily_ARM-type_fold	ENSG00000083097		0.438	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	-	0	55	0	C	NM_015018		83847209	1	tier1	-	no_errors	ENST00000349129	ensembl	human	known	74_37	nonsense	9.38	58	6	SNP	1.000	T	T	83847209	C	T	83847209	4	4	160	1	0	0	0	0	0	1	0	0	4721	827	29	3	3522	3	DOPEY1	6	83847209	Nonsense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	922783	83847209	87267858	136	40633											
RNGTT	8732	genome.wustl.edu	37	chr6	89614444	89614444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacattaccagttttaacCgttcttttctccttttgcca	9	18	3	11	1	2	0	0	0	2	0	3	0	2	0	4	0	4	2	4	0	4	9			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:89614444C>T	ENST00000369485.4	-	6	860	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	RNGTT_ENST00000369475.3_Missense_Mutation_p.R225Q|RNGTT_ENST00000265607.6_Missense_Mutation_p.R225Q|RNGTT_ENST00000538899.1_Missense_Mutation_p.R165Q	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	225					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CAGTTTTAACCGTTCTTTTCT	0.343																																																	0													60	58	59					6																	89614444		2203	4300	6503	SO:0001583	missense	0			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.674G>A	6.37:g.89614444C>T	ENSP00000358497:p.Arg225Gln		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-sp_Pase	p.R225Q	ENST00000369485.4	37	c.674	CCDS5017.1	6	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962532	0.34659	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	T;T;T;T	0.30714	1.96;1.96;1.96;1.52	5.56	5.56	0.83823	.	0.098843	0.64402	D	0.000004	T	0.13543	0.0328	L	0.53249	1.67	0.45015	D	0.99803	B;B;B;B	0.17667	0.023;0.017;0.017;0.01	B;B;B;B	0.10450	0.003;0.005;0.003;0.003	T	0.04593	-1.0940	10	0.10377	T	0.69	.	12.4132	0.55480	0.0:0.8801:0.0:0.1199	.	165;225;225;225	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	Q	225;225;165;196;225	ENSP00000358497:R225Q;ENSP00000265607:R225Q;ENSP00000442609:R165Q;ENSP00000358487:R225Q	ENSP00000265607:R225Q	R	-	2	0	RNGTT	89671163	0.974000	0.33945	1.000000	0.80357	0.988000	0.76386	2.190000	0.42630	2.613000	0.88420	0.655000	0.94253	CGG	RNGTT	-	pirsf_mRNA_cap_enz_bifunc	ENSG00000111880		0.343	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	-	0	122	0	C			89614444	-1	tier1	-	no_errors	ENST00000369485	ensembl	human	known	74_37	missense	11.71	98	13	SNP	1.000	T	T	89614444	C	T	89614444	3	4	160	1	0	0	0	0	1	0	0	0	13548	652	23	1	1163	1	RNGTT	6	89614444	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	5767235	89614444	81500623	137	40634											
BACH2	60468	genome.wustl.edu	37	chr6	90642385	90642385	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgcgcattgggaggcCgcaatgttctgctcagcacc	7	8	11	15	2	2	0	1	0	1	0	2	1	2	1	3	2	3	5	3	2	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:90642385C>T	ENST00000257749.4	-	9	2975	c.2268G>A	c.(2266-2268)gcG>gcA	p.A756A	BACH2_ENST00000343122.3_Silent_p.A756A|BACH2_ENST00000537989.1_Silent_p.A756A	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	756						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)	p.A756A(1)		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)		ATTGGGAGGCCGCAATGTTCT	0.647																																																	1	Substitution - coding silent(1)	ovary(1)											42	43	42					6																	90642385		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2268G>A	6.37:g.90642385C>T			E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.A756	ENST00000257749.4	37	c.2268	CCDS5026.1	6																																																																																			BACH2	-	NULL	ENSG00000112182		0.647	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	-	0	52	0	C	NM_021813		90642385	-1	tier1	-	no_errors	ENST00000257749	ensembl	human	known	74_37	silent	16.42	56	11	SNP	0.059	T	T	90642385	C	T	90642385	2	4	160	1	0	0	0	0	0	0	0	1	1285	639	23	1		1	BACH2	6	90642385	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1027941	90642385	80472682	138	40635											
AKD1	221264	genome.wustl.edu	37	chr6	109867151	109867151	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtttggcagcttgctcGttctcagaatcttcctcaaa	7	16	7	11	1	4	1	2	0	3	1	7	1	5	1	1	1	2	5	1	1	2	5	rs151316525		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:109867151G>A	ENST00000424296.2	-	26	3220	c.3144C>T	c.(3142-3144)aaC>aaT	p.N1048N	AK9_ENST00000355283.1_Silent_p.N127N|AK9_ENST00000341338.6_Silent_p.N127N	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1048	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CAGCTTGCTCGTTCTCAGAAT	0.353													G|||	1	0.000199681	0	0	5008	,	,		17730	0		0	False		,,,				2504	0.001																0								G		0,4406		0,0,2203	108	105	106		3144	-10.9	0.1	6	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	AKD1	NM_001145128.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1048/1912	109867151	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.3144C>T	6.37:g.109867151G>A			A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.N1048	ENST00000424296.2	37	c.3144	CCDS55048.1	6																																																																																			AK9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000155085		0.353	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding		-	0	110	0	G	NM_001145128		109867151	-1	tier1	rs151316525	no_errors	ENST00000424296	ensembl	human	known	74_37	silent	8.55	107	10	SNP	0.069	A	A	109867151	G	A	109867151	2	1	160	1	0	0	0	0	0	0	0	1	460	1136	40	1		1	AKD1	6	109867151	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	19224766	109867151	61247916	139	40636											
ENPP1	5167	genome.wustl.edu	37	chr6	132172307	132172307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatggacttgcaacaaattCaggtgtggtgagaaaaggtt	14	11	12	4	0	1	1	1	1	0	1	1	3	1	2	0	4	2	2	0	4	5	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:132172307C>T	ENST00000360971.2	+	4	476	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	152	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				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)	GCAACAAATTCAGGTGTGGTG	0.423																																					Colon(104;336 1535 5856 11019 33782)												0													148	142	144					6																	132172307		2203	4300	6503	SO:0001819	synonymous_variant	0			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.456C>T	6.37:g.132172307C>T			Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.F152	ENST00000360971.2	37	c.456	CCDS5150.2	6																																																																																			ENPP1	-	pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom	ENSG00000197594		0.423	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	-	0	70	0	C			132172307	1	tier1	-	no_errors	ENST00000360971	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.994	T	T	132172307	C	T	132172307	2	4	160	1	0	0	0	0	0	0	0	1	5145	825	29	3		3	ENPP1	6	132172307	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	22305156	132172307	38942760	140	40637											
SASH1	23328	genome.wustl.edu	37	chr6	148865205	148865205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccccctcagattgtacctGaagtgccacagaagacgacc	11	6	9	15	2	1	4	1	1	0	3	1	5	1	4	5	0	2	1	5	0	3	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:148865205G>A	ENST00000367467.3	+	18	3074	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	867					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GATTGTACCTGAAGTGCCACA	0.572																																																	0													117	128	125					6																	148865205		2203	4300	6503	SO:0001583	missense	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2599G>A	6.37:g.148865205G>A	ENSP00000356437:p.Glu867Lys		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E867K	ENST00000367467.3	37	c.2599	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	g	7.340	0.620633	0.14193	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.37915	1.17	5.36	0.398	0.16319	.	0.649242	0.16053	N	0.231867	T	0.12220	0.0297	L	0.51422	1.61	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.31943	-0.9925	10	0.31617	T	0.26	-7.3983	9.6094	0.39654	0.1472:0.2079:0.645:0.0	.	848;867	Q6P4R9;O94885	.;SASH1_HUMAN	K	867;628;277	ENSP00000356437:E867K	ENSP00000356437:E867K	E	+	1	0	SASH1	148906898	0.951000	0.32395	0.011000	0.14972	0.003000	0.03518	1.486000	0.35530	-0.499000	0.06623	-1.811000	0.00612	GAA	SASH1	-	NULL	ENSG00000111961		0.572	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1		0	32	0	G	NM_015278		148865205	1			no_errors	ENST00000367467	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.074	A	A	148865205	G	A	148865205	3	1	160	1	0	0	0	0	1	0	0	0	13893	1291	45	3	2669	3	SASH1	6	148865205	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	16692898	148865205	22249862	141	40638											
OPRM1	4988	genome.wustl.edu	37	chr6	154360312	154360312	+	5'Flank	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagatgtgtttgcacagaaGagtgcccagtgaagagacct	12	10	12	7	0	0	5	0	1	0	4	0	6	0	5	2	0	2	2	2	0	3	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:154360312G>C	ENST00000330432.7	+	0	0				OPRM1_ENST00000452687.2_5'Flank|OPRM1_ENST00000428397.2_5'Flank|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000524163.1_5'Flank|OPRM1_ENST00000337049.4_5'Flank|OPRM1_ENST00000229768.5_5'Flank|OPRM1_ENST00000360422.4_5'Flank|OPRM1_ENST00000419506.2_5'Flank|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000435918.2_5'Flank|OPRM1_ENST00000434900.2_Missense_Mutation_p.R6T|OPRM1_ENST00000414028.2_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)	TTGCACAGAAGAGTGCCCAGT	0.517																																																	0													164	154	157					6																	154360312		692	1591	2283	SO:0001631	upstream_gene_variant	0			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		6.37:g.154360312G>C	Exception_encountered		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	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.R6T	ENST00000330432.7	37	c.17	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978953	0.34942	.	.	ENSG00000112038	ENST00000434900	T	0.73258	-0.73	4.67	1.8	0.24995	.	.	.	.	.	T	0.27205	0.0667	N	0.08118	0	0.09310	N	0.999999	B	0.13594	0.008	B	0.14023	0.01	T	0.27806	-1.0063	9	0.87932	D	0	.	6.4284	0.21782	0.0989:0.3585:0.5425:0.0	.	6	P35372-10	.	T	6	ENSP00000394624:R6T	ENSP00000394624:R6T	R	+	2	0	OPRM1	154402005	0.049000	0.20398	0.000000	0.03702	0.285000	0.27093	2.651000	0.46674	0.186000	0.20125	0.650000	0.86243	AGA	OPRM1	-	NULL	ENSG00000112038		0.517	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	-	0	43	0	G	NM_000914		154360312	1	tier1	-	no_errors	ENST00000434900	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.000	C	C	154360312	G	C	154360312	1	2	160	0	1	0	0	0	0	0	0	0	10926	942	33	5		5	OPRM1	6	154360312	5'Flank	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	5495107	154360312	16754755	142	40639											
GTF2H5	404672	genome.wustl.edu	37	chr6	158613099	158613099	+	Silent	SNP	C	C	T	0	0	0	1	1	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	caagacattgatgacactcaCgtctttgtaatagcagaatt	14	12	7	8	1	2	4	1	2	1	2	2	4	2	4	0	0	1	2	0	0	4	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:158613099C>T	ENST00000607778.1	+	3	204	c.126C>T	c.(124-126)caC>caT	p.H42H		NM_207118.2	NP_997001.1	Q6ZYL4	TF2H5_HUMAN	general transcription factor IIH, polypeptide 5	42					cellular response to gamma radiation (GO:0071480)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, preincision complex assembly (GO:0006294)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription elongation from RNA polymerase I promoter (GO:0006362)	core TFIIH complex (GO:0000439)|nucleolus (GO:0005730)	rDNA binding (GO:0000182)						Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05)		ATGACACTCACGTCTTTGTAA	0.423								Nucleotide excision repair (NER)																																									0													141	123	129					6																	158613099		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055106	CCDS5256.1	6q25.3	2014-09-17	2004-07-15	2004-07-16		ENSG00000272047		"General transcription factors", "General transcription factor IIH complex subunits"	21157	protein-coding gene	gene with protein product	"DNA repair syndrome trichothiodystrophy group A"	608780	"chromosome 6 open reading frame 175", "trichothiodystrophy"	C6orf175, TTD		15220921	Standard	NM_207118		Approved	FLJ30544, bA120J8.2, TTD-A, TFB5, TFIIH, TTDA	uc003qrd.3	Q6ZYL4		ENST00000607778.1:c.126C>T	6.37:g.158613099C>T			Q0P5V8	Silent	SNP	pfam_TFIIH_TTDA/Tfb5,superfamily_TFIIH_TTDA/Tfb5	p.H42	ENST00000607778.1	37	c.126	CCDS5256.1	6																																																																																			GTF2H5	-	pfam_TFIIH_TTDA/Tfb5,superfamily_TFIIH_TTDA/Tfb5	ENSG00000272047		0.423	GTF2H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H5	HGNC	protein_coding	OTTHUMT00000042865.2	-	0	99	0	C	NM_207118		158613099	1	tier1	-	no_errors	ENST00000607778	ensembl	human	known	74_37	silent	6.25	75	5	SNP	0.649	T	T	158613099	C	T	158613099	2	4	160	1	0	0	0	0	0	0	0	1	6893	535	19	1		1	GTF2H5	6	158613099	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	4252787	158613099	12501968	143	40640											
IGF2R	3482	genome.wustl.edu	37	chr6	160471608	160471608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctggaatacgtgaatgggtCggcctgcaccaccagcgatg	9	8	13	11	3	1	1	0	1	1	0	2	3	1	2	3	3	3	1	3	3	3	1	rs199514599		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:160471608C>T	ENST00000356956.1	+	19	2766	c.2618C>T	c.(2617-2619)tCg>tTg	p.S873L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	873					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)	GTGAATGGGTCGGCCTGCACC	0.582																																																	0								C	LEU/SER	0,4406		0,0,2203	89	77	81		2618	5.3	0	6		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGF2R	NM_000876.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	873/2492	160471608	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2618C>T	6.37:g.160471608C>T	ENSP00000349437:p.Ser873Leu		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.S873L	ENST00000356956.1	37	c.2618	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620958	0.66787	0.0	1.16E-4	ENSG00000197081	ENST00000356956	T	0.02177	4.41	5.27	5.27	0.74061	Mannose-6-phosphate receptor, binding (1);	0.055817	0.85682	D	0.000000	T	0.09468	0.0233	M	0.87328	2.875	0.51482	D	0.99992	D	0.89917	1.0	D	0.65323	0.934	T	0.01360	-1.1375	10	0.59425	D	0.04	-4.7741	17.0651	0.86557	0.0:1.0:0.0:0.0	.	873	P11717	MPRI_HUMAN	L	873	ENSP00000349437:S873L	ENSP00000349437:S873L	S	+	2	0	IGF2R	160391598	1.000000	0.71417	0.002000	0.10522	0.003000	0.03518	6.831000	0.75324	2.469000	0.83416	0.491000	0.48974	TCG	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.582	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0	45	0	C	NM_000876		160471608	1	tier1	rs199514599	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	T	T	160471608	C	T	160471608	3	4	160	1	0	0	0	0	1	0	0	0	7603	893	31	1	2692	1	IGF2R	6	160471608	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1858509	160471608	10643459	144	40641											
PRKAR1B	5575	genome.wustl.edu	37	chr7	720337	720337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactgtgagtttgacttttgCcgcgccaaaatctgcctgtt	7	14	10	10	2	1	2	0	2	1	0	1	3	1	2	3	0	2	2	3	0	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:720337C>T	ENST00000406797.1	-	3	378	c.204G>A	c.(202-204)cgG>cgA	p.R68R	PRKAR1B_ENST00000360274.4_Silent_p.R68R|PRKAR1B_ENST00000544935.1_Silent_p.R68R|PRKAR1B_ENST00000403562.1_Silent_p.R68R|PRKAR1B_ENST00000537384.1_Silent_p.R68R	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	68	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|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)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TTGACTTTTGCCGCGCCAAAA	0.607																																																	0													82	79	80					7																	720337		2203	4300	6503	SO:0001819	synonymous_variant	0			M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.204G>A	7.37:g.720337C>T			Q8N422	Silent	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.R68	ENST00000406797.1	37	c.204	CCDS34579.1	7																																																																																			PRKAR1B	-	pirsf_cAMP_dep_PK_reg_su	ENSG00000188191		0.607	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKAR1B	HGNC	protein_coding	OTTHUMT00000322525.1		0	49	0	C			720337	-1			no_errors	ENST00000360274	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.932	T	T	720337	C	T	720337	2	4	160	1	0	0	0	0	0	0	0	1	12546	726	26	3		3	PRKAR1B	7	720337	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09		720337	158418326	145	40642											
MICALL2	79778	genome.wustl.edu	37	chr7	1498894	1498894	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgacgtggtcatgttgcaGatattcacgtcgcggtagcc	9	10	12	10	5	2	1	2	0	0	1	3	2	2	1	1	2	3	3	1	2	3	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:1498894G>A	ENST00000297508.7	-	1	244	c.69C>T	c.(67-69)atC>atT	p.I23I	AC102953.4_ENST00000445345.1_RNA|MICALL2_ENST00000405088.4_Silent_p.I23I	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	23	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)		TCATGTTGCAGATATTCACGT	0.687																																																	0													71	64	66					7																	1498894		2202	4299	6501	SO:0001819	synonymous_variant	0			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.69C>T	7.37:g.1498894G>A			D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.I23	ENST00000297508.7	37	c.69	CCDS5324.1	7																																																																																			MICALL2	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000164877		0.687	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	-	0	121	0	G	NM_182924		1498894	-1	tier1	-	no_errors	ENST00000297508	ensembl	human	known	74_37	silent	12.28	100	14	SNP	1.000	A	A	1498894	G	A	1498894	2	1	160	1	0	0	0	0	0	0	0	1	9612	932	33	3		3	MICALL2	7	1498894	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	778557	1498894	157639769	146	40643											
RSPH10B	222967	genome.wustl.edu	37	chr7	6006528	6006528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggtcagaatggactcttCgtattgggtggcatcttcgt	6	16	12	7	2	3	1	1	0	2	1	5	2	3	2	0	4	0	2	0	4	2	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:6006528C>T	ENST00000405415.1	-	2	606	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	RSPH10B_ENST00000404406.1_Missense_Mutation_p.E74K|RSPH10B_ENST00000441023.2_Missense_Mutation_p.E74K|RSPH10B_ENST00000337579.3_Missense_Mutation_p.E74K			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	74										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		ATGGACTCTTCGTATTGGGTG	0.473																																																	0													209	148	169					7																	6006528		2093	3803	5896	SO:0001583	missense	0				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.220G>A	7.37:g.6006528C>T	ENSP00000385443:p.Glu74Lys		A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.E74K	ENST00000405415.1	37	c.220	CCDS34598.1	7	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315059	0.81358	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000441023	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.38	5.38	0.77491	.	0.194531	0.33553	N	0.004798	T	0.67664	0.2917	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	T	0.66156	-0.5994	10	0.32370	T	0.25	.	14.2619	0.66090	0.0:0.85:0.15:0.0	.	74	P0C881	R10B1_HUMAN	K	74	ENSP00000385443:E74K;ENSP00000384097:E74K;ENSP00000338556:E74K;ENSP00000400988:E74K	ENSP00000338556:E74K	E	-	1	0	RSPH10B	5973054	0.995000	0.38212	0.933000	0.37362	0.644000	0.38419	4.331000	0.59273	2.530000	0.85305	0.561000	0.74099	GAA	RSPH10B	-	NULL	ENSG00000155026		0.473	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B	HGNC	protein_coding	OTTHUMT00000325465.2	-	0	277	0	C	NM_173565		6006528	-1	tier1	-	no_errors	ENST00000337579	ensembl	human	known	74_37	missense	6.52	301	21	SNP	0.968	T	T	6006528	C	T	6006528	3	4	160	1	0	0	0	0	1	0	0	0	13748	893	31	1	2468	1	RSPH10B	7	6006528	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	4507634	6006528	153132135	147	40644											
C7orf26	79034	genome.wustl.edu	37	chr7	6631456	6631456	+	Silent	SNP	G	G	C	0	0	1	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	gtctccatggcggtggctgtGtgtcgaatcccggtgttgga	4	12	16	9	3	1	0	0	0	1	0	4	2	2	1	2	5	0	2	2	5	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:6631456G>C	ENST00000344417.5	+	2	639	c.372G>C	c.(370-372)gtG>gtC	p.V124V	AC079742.4_ENST00000434951.1_RNA|C7orf26_ENST00000359073.5_Silent_p.V105V|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	124										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CGGTGGCTGTGTGTCGAATCC	0.562																																																	0													135	120	125					7																	6631456		2203	4300	6503	SO:0001819	synonymous_variant	0			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.372G>C	7.37:g.6631456G>C			Q9BQ43	Silent	SNP	NULL	p.V124	ENST00000344417.5	37	c.372	CCDS5353.1	7																																																																																			C7orf26	-	NULL	ENSG00000146576		0.562	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf26	HGNC	protein_coding	OTTHUMT00000246844.2	-	0	69	0	G	NM_024067		6631456	1	tier1	-	no_errors	ENST00000344417	ensembl	human	known	74_37	silent	9.23	59	6	SNP	1.000	C	C	6631456	G	C	6631456	2	2	160	1	0	0	0	0	0	0	0	1	2388	1364	48	5		5	C7orf26	7	6631456	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	624928	6631456	152507207	148	40645											
SNX13	23161	genome.wustl.edu	37	chr7	17873763	17873763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataaagtgcattctgtctGaaggaaggataaaatctttc	15	12	8	6	0	3	1	0	1	3	0	4	3	3	3	0	2	1	1	0	2	6	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:17873763G>T	ENST00000409389.1	-	15	1681	c.1509C>A	c.(1507-1509)ttC>ttA	p.F503L	SNX13_ENST00000428135.3_Missense_Mutation_p.F503L			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	503					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CATTCTGTCTGAAGGAAGGAT	0.383																																																	0													66	62	63					7																	17873763		1887	4115	6002	SO:0001583	missense	0			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1509C>A	7.37:g.17873763G>T	ENSP00000386705:p.Phe503Leu		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.F503L	ENST00000409389.1	37	c.1509		7	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339595	0.81911	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.63744	-0.06;-0.06	5.58	2.74	0.32292	.	0.043393	0.85682	D	0.000000	T	0.77864	0.4194	M	0.83312	2.635	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	0.78961	-0.1997	10	0.72032	D	0.01	-8.589	10.4954	0.44775	0.2159:0.0:0.7841:0.0	.	300;503;503	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	L	503;503;551	ENSP00000386705:F503L;ENSP00000398789:F503L	ENSP00000242044:F551L	F	-	3	2	SNX13	17840288	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.815000	0.62634	0.700000	0.31782	0.637000	0.83480	TTC	SNX13	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam	ENSG00000071189		0.383	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1		0	22	0	G	NM_015132		17873763	-1			no_errors	ENST00000428135	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	17873763	G	T	17873763	3	4	160	1	0	0	0	0	1	0	0	0	14929	1281	45	3	1412	3	SNX13	7	17873763	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	11242307	17873763	141264900	149	40646											
NFE2L3	9603	genome.wustl.edu	37	chr7	26225093	26225093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggaaaaataaagttgctgCgcagaactgtcgtaaacgca	16	7	11	7	3	0	1	0	0	0	1	1	2	0	2	0	1	4	5	0	1	7	3	rs374797223		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:26225093C>T	ENST00000056233.3	+	4	2034	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	592	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				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)	p.A592V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AAAGTTGCTGCGCAGAACTGT	0.368																																																	1	Substitution - Missense(1)	large_intestine(1)						C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	58	56	57		1775	5.7	1	7		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	NFE2L3	NM_004289.6	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	592/695	26225093	2,13004	2203	4300	6503	SO:0001583	missense	0			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.1775C>T	7.37:g.26225093C>T	ENSP00000056233:p.Ala592Val		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.A592V	ENST00000056233.3	37	c.1775	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.199424	0.94997	2.27E-4	1.16E-4	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.95342	-3.68	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98662	1.0684	10	0.87932	D	0	-15.3902	19.4639	0.94931	0.0:1.0:0.0:0.0	.	592	Q9Y4A8	NF2L3_HUMAN	V	592;297	ENSP00000056233:A592V	ENSP00000056233:A592V	A	+	2	0	NFE2L3	26191618	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.070000	0.71220	2.703000	0.92315	0.591000	0.81541	GCG	NFE2L3	-	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	ENSG00000050344		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	-	0	126	0	C			26225093	1	tier1	-	no_errors	ENST00000056233	ensembl	human	known	74_37	missense	6.67	98	7	SNP	1.000	T	T	26225093	C	T	26225093	3	4	160	1	0	0	0	0	1	0	0	0	10408	768	27	1	1789	1	NFE2L3	7	26225093	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	8351330	26225093	132913570	150	40647											
SFRP4	6424	genome.wustl.edu	37	chr7	37955833	37955833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcagtcgtcgcgcgcgcGttggcacaccgacttgcacg	5	7	13	16	9	0	0	0	0	0	0	3	1	0	0	1	1	1	4	1	1	0	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:37955833G>A	ENST00000436072.2	-	1	684	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	103	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCGCGCGCGCGTTGGCACACC	0.632																																																	0													62	53	56					7																	37955833		2203	4300	6503	SO:0001583	missense	0			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.307C>T	7.37:g.37955833G>A	ENSP00000410715:p.Arg103Cys		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.R103C	ENST00000436072.2	37	c.307	CCDS5453.1	7	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691466	0.68271	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.76709	-1.04	4.28	4.28	0.50868	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.88355	0.6414	M	0.89095	3.005	0.53688	D	0.999977	D	0.89917	1.0	D	0.78314	0.991	D	0.89849	0.4008	10	0.87932	D	0	.	10.953	0.47341	0.0:0.0:0.8126:0.1874	.	103	Q6FHJ7	SFRP4_HUMAN	C	103;100	ENSP00000410715:R103C	ENSP00000410715:R103C	R	-	1	0	SFRP4	37922358	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.549000	0.53681	2.205000	0.71048	0.650000	0.86243	CGC	SFRP4	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000106483		0.632	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP4	HGNC	protein_coding	OTTHUMT00000220017.2	-	0	69	0	G	NM_003014		37955833	-1	tier1	-	no_errors	ENST00000436072	ensembl	human	known	74_37	missense	10.17	52	6	SNP	1.000	A	A	37955833	G	A	37955833	3	1	160	1	0	0	0	0	1	0	0	0	14208	1145	40	1	757	1	SFRP4	7	37955833	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	11730740	37955833	121182830	151	40648											
URGCP	55665	genome.wustl.edu	37	chr7	43918114	43918114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccttccgctgggaaaaaaCcaggaaatttctaccaaccc	13	8	6	14	1	1	0	0	0	1	0	3	2	3	2	5	2	3	1	5	2	6	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:43918114C>A	ENST00000453200.1	-	6	1441	c.948G>T	c.(946-948)tgG>tgT	p.W316C	URGCP_ENST00000336086.6_Missense_Mutation_p.W273C|URGCP_ENST00000443736.1_Missense_Mutation_p.W273C|URGCP_ENST00000402306.3_Missense_Mutation_p.W307C|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.W273C|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.W273C			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	316					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						TGGGAAAAAACCAGGAAATTT	0.557																																																	0													56	58	57					7																	43918114		1879	4112	5991	SO:0001583	missense	0				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.948G>T	7.37:g.43918114C>A	ENSP00000396918:p.Trp316Cys		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.W316C	ENST00000453200.1	37	c.948	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784229	0.49997	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.61158	0.24;0.24;0.15;0.24;0.13;0.24	5.66	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.61350	0.2340	M	0.86178	2.8	0.58432	D	0.999998	B;B	0.30727	0.292;0.292	B;B	0.25614	0.062;0.062	T	0.66027	-0.6025	10	0.87932	D	0	-26.1024	13.7103	0.62665	0.1556:0.8444:0.0:0.0	.	307;316	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	C	273;273;307;273;316;273	ENSP00000223341:W273C;ENSP00000336872:W273C;ENSP00000384955:W307C;ENSP00000392136:W273C;ENSP00000396918:W316C;ENSP00000402803:W273C	ENSP00000223341:W273C	W	-	3	0	URGCP	43884639	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.342000	0.79310	1.377000	0.46286	-0.282000	0.10007	TGG	URGCP	-	NULL	ENSG00000106608		0.557	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1		0	44	0	C	NM_001077664		43918114	-1			no_errors	ENST00000453200	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	43918114	C	A	43918114	3	1	160	1	0	0	0	0	1	0	0	0	17075	508	18	3	1851	3	URGCP	7	43918114	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	5962281	43918114	115220549	152	40649											
DBNL	28988	genome.wustl.edu	37	chr7	44099013	44099013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagagacccactttggcaGagagccagctgctgccatct	10	7	10	14	0	1	2	0	0	1	2	1	4	1	2	4	1	4	3	4	1	0	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:44099013G>A	ENST00000448521.1	+	10	994	c.896G>A	c.(895-897)aGa>aAa	p.R299K	DBNL_ENST00000468694.1_Missense_Mutation_p.R308K|DBNL_ENST00000490734.2_Missense_Mutation_p.R205K|DBNL_ENST00000494774.1_Missense_Mutation_p.R300K|DBNL_ENST00000452943.1_Missense_Mutation_p.R275K|DBNL_ENST00000440166.1_Missense_Mutation_p.R196K|DBNL_ENST00000456905.1_Missense_Mutation_p.R251K|DBNL_ENST00000497184.1_3'UTR	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	299					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						CACTTTGGCAGAGAGCCAGCT	0.592																																					NSCLC(68;573 1327 18604 34760 37992)												0													40	42	41					7																	44099013		2203	4300	6503	SO:0001583	missense	0			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.896G>A	7.37:g.44099013G>A	ENSP00000411701:p.Arg299Lys		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain	p.R308K	ENST00000448521.1	37	c.923	CCDS34623.1	7	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403370	0.25291	.	.	ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475	T;T;T;T;T;T;T	0.28895	1.97;2.26;2.28;2.28;1.59;1.97;2.25	5.56	2.7	0.31948	Src homology-3 domain (1);	1.608970	0.04090	N	0.311184	T	0.25269	0.0614	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.09022	0.002;0.001;0.002;0.001;0.002;0.001;0.002;0.001;0.001	B;B;B;B;B;B;B;B;B	0.11329	0.003;0.002;0.002;0.001;0.004;0.002;0.006;0.001;0.002	T	0.24404	-1.0161	10	0.08837	T	0.75	-0.8793	2.8499	0.05554	0.1578:0.1435:0.5502:0.1484	.	196;248;229;251;205;275;308;299;300	B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.;.;.;.;.;.;.;DBNL_HUMAN;.	K	299;251;196;275;308;300;205;229	ENSP00000411701:R299K;ENSP00000416421:R251K;ENSP00000415173:R196K;ENSP00000405343:R275K;ENSP00000417653:R308K;ENSP00000419992:R300K;ENSP00000417749:R205K	ENSP00000415173:R196K	R	+	2	0	DBNL	44065538	0.509000	0.26163	0.009000	0.14445	0.962000	0.63368	1.521000	0.35910	0.279000	0.22186	0.650000	0.86243	AGA	DBNL	-	superfamily_SH3_domain	ENSG00000136279		0.592	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBNL	HGNC	protein_coding	OTTHUMT00000339572.2	-	0	69	0	G	NM_014063		44099013	1	tier1	-	no_errors	ENST00000468694	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.014	A	A	44099013	G	A	44099013	3	1	160	1	0	0	0	0	1	0	0	0	4264	942	33	3	961	3	DBNL	7	44099013	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	180899	44099013	115039650	153	40650											
DDX56	54606	genome.wustl.edu	37	chr7	44612216	44612216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaagccaaaggaaaaaaGaaggtcagcttcgtccacca	17	6	8	10	1	2	1	2	0	0	1	4	2	3	2	3	2	2	1	3	2	6	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:44612216G>A	ENST00000258772.5	-	4	617	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	DDX56_ENST00000431640.1_Missense_Mutation_p.L171F|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	171	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						AAGGAAAAAAGAAGGTCAGCT	0.502																																																	0													136	139	138					7																	44612216		2203	4300	6503	SO:0001583	missense	0			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.511C>T	7.37:g.44612216G>A	ENSP00000258772:p.Leu171Phe		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L171F	ENST00000258772.5	37	c.511	CCDS5492.1	7	.	.	.	.	.	.	.	.	.	.	.	20.2	3.949062	0.73787	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.52983	0.64;0.64	5.48	3.63	0.41609	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.211078	0.40469	N	0.001082	T	0.63792	0.2541	M	0.78344	2.41	0.49915	D	0.999839	D;D	0.59357	0.972;0.985	P;D	0.63283	0.841;0.913	T	0.65627	-0.6122	10	0.87932	D	0	-10.6803	9.4297	0.38601	0.0:0.2966:0.55:0.1533	.	171;171	C9JV95;Q9NY93	.;DDX56_HUMAN	F	171	ENSP00000258772:L171F;ENSP00000393488:L171F	ENSP00000258772:L171F	L	-	1	0	DDX56	44578741	0.991000	0.36638	0.996000	0.52242	0.982000	0.71751	1.442000	0.35046	0.765000	0.33221	0.655000	0.94253	CTT	DDX56	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000136271		0.502	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX56	HGNC	protein_coding	OTTHUMT00000251291.1	-	0	56	0	G	NM_019082		44612216	-1	tier1	-	no_errors	ENST00000258772	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.997	A	A	44612216	G	A	44612216	3	1	160	1	0	0	0	0	1	0	0	0	4383	942	33	3	1176	3	DDX56	7	44612216	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	513203	44612216	114526447	154	40651											
IGFBP3	3486	genome.wustl.edu	37	chr7	45957003	45957003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgggctctccacactgcCggcgctgcggtcttcctccg	3	8	13	17	5	2	0	0	0	2	0	5	1	4	1	4	4	2	2	4	4	0	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:45957003C>T	ENST00000275521.6	-	2	572	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	IGFBP3_ENST00000381083.4_Missense_Mutation_p.G153S|IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381086.5_Missense_Mutation_p.G50S	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	147	Ser/Thr-rich.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TCCACACTGCCGGCGCTGCGG	0.498											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													57	57	57					7																	45957003		2203	4300	6503	SO:0001583	missense	0				CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"growth hormone-dependent binding protein", "acid stable subunit of the 140 K IGF complex", "binding protein 53", "binding protein 29", "IGF-binding protein 3"	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.439G>A	7.37:g.45957003C>T	ENSP00000275521:p.Gly147Ser	935	A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-3,pfscan_Thyroglobulin_1	p.G153S	ENST00000275521.6	37	c.457	CCDS5505.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.94|10.94	1.492205|1.492205	0.26774|0.26774	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817|ENST00000417621	T;T;T;T|.	0.22743|.	2.54;1.94;2.54;2.07|.	5.55|5.55	-0.00787|-0.00787	0.14007|0.14007	.|.	3.182860|.	0.01361|.	N|.	0.012231|.	T|T	0.30070|0.30070	0.0753|0.0753	L|L	0.28504|0.28504	0.86|0.86	0.09310|0.09310	N|N	1|1	B;B;B|.	0.20988|.	0.05;0.035;0.035|.	B;B;B|.	0.14023|.	0.007;0.01;0.007|.	T|T	0.28459|0.28459	-1.0043|-1.0043	10|5	0.17369|.	T|.	0.5|.	-22.7846|-22.7846	7.2658|7.2658	0.26229|0.26229	0.0:0.4264:0.0:0.5736|0.0:0.4264:0.0:0.5736	.|.	50;147;132|.	B3KWK7;P17936;B4DN53|.	.;IBP3_HUMAN;.|.	S|Q	124;147;50;133;45;153;119;37|8	ENSP00000275521:G147S;ENSP00000370476:G50S;ENSP00000370473:G153S;ENSP00000389668:G37S|.	ENSP00000275521:G147S|.	G|R	-|-	1|2	0|0	IGFBP3|IGFBP3	45923528|45923528	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.715000|0.715000	0.25822|0.25822	0.060000|0.060000	0.16281|0.16281	-0.781000|-0.781000	0.03364|0.03364	GGC|CGG	IGFBP3	-	NULL	ENSG00000146674		0.498	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGFBP3	HGNC	protein_coding	OTTHUMT00000251356.3	-	0	59	0	C	NM_001013398		45957003	-1	tier1	-	no_errors	ENST00000381083	ensembl	human	known	74_37	missense	18.92	29	7	SNP	0.000	T	T	45957003	C	T	45957003	3	4	160	1	0	0	0	0	1	0	0	0	7607	652	23	1	448	1	IGFBP3	7	45957003	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1344787	45957003	113181660	155	40652											
WBSCR17	64409	genome.wustl.edu	37	chr7	70885939	70885939	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaaaaccggaagcgtgtGatcctcccctccattgacaa	12	7	9	13	2	0	2	0	2	0	0	3	4	3	4	5	2	2	0	5	2	4	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:70885939G>C	ENST00000333538.5	+	5	1444	c.810G>C	c.(808-810)gtG>gtC	p.V270V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	270					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)				GGAAGCGTGTGATCCTCCCCT	0.537																																																	0													203	187	193					7																	70885939		2203	4300	6503	SO:0001819	synonymous_variant	0			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.810G>C	7.37:g.70885939G>C			Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V270	ENST00000333538.5	37	c.810	CCDS5540.1	7																																																																																			WBSCR17	-	pfam_Glyco_trans_2	ENSG00000185274		0.537	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0	51	0	G	NM_022479		70885939	1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	silent	8.00	69	6	SNP	0.998	C	C	70885939	G	C	70885939	2	2	160	1	0	0	0	0	0	0	0	1	17313	1277	45	5		5	WBSCR17	7	70885939	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	24928936	70885939	88252724	156	40653											
PCLO	27445	genome.wustl.edu	37	chr7	82584289	82584289	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaatctgttctgaaagtcTtatcttttgctctcttcctt	8	20	4	9	0	5	1	0	1	5	0	7	1	6	1	1	0	1	2	1	0	4	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:82584289T>A	ENST00000333891.9	-	5	6317	c.5980A>T	c.(5980-5982)Aga>Tga	p.R1994*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.R1994*	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						TCTGAAAGTCTTATCTTTTGC	0.388																																																	0													127	131	130					7																	82584289		1857	4091	5948	SO:0001587	stop_gained	0			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.5980A>T	7.37:g.82584289T>A	ENSP00000334319:p.Arg1994*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.R1994*	ENST00000333891.9	37	c.5980	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	48	14.213118	0.99785	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.0125	0.53295	0.0:0.0:0.1442:0.8558	.	.	.	.	X	1925;1994;1994	.	ENSP00000334319:R1994X	R	-	1	2	PCLO	82422225	0.989000	0.36119	0.971000	0.41717	0.839000	0.47603	2.799000	0.47892	2.203000	0.70933	0.533000	0.62120	AGA	PCLO	-	NULL	ENSG00000186472		0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	51	0	T	NM_014510		82584289	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	nonsense	16.00	63	12	SNP	0.571	A	A	82584289	T	A	82584289	4	1	160	1	0	0	0	0	0	1	0	0	11622	1617	56	5	9549	5	PCLO	7	82584289	Nonsense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	11698350	82584289	76554374	157	40654											
PCLO	27445	genome.wustl.edu	37	chr7	82585035	82585035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctccttttttgtgactcGggctactgtcactgtcctca	4	17	7	13	1	3	1	2	1	1	0	7	1	5	1	2	1	1	1	2	1	1	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:82585035G>A	ENST00000333891.9	-	5	5571	c.5234C>T	c.(5233-5235)cCg>cTg	p.P1745L	PCLO_ENST00000423517.2_Missense_Mutation_p.P1745L	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						TTTGTGACTCGGGCTACTGTC	0.488																																																	0													149	140	143					7																	82585035		1996	4194	6190	SO:0001583	missense	0			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.5234C>T	7.37:g.82585035G>A	ENSP00000334319:p.Pro1745Leu			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.P1745L	ENST00000333891.9	37	c.5234	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080258	0.36662	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.67345	-0.26;-0.21	5.56	5.56	0.83823	.	.	.	.	.	T	0.73171	0.3553	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77270	-0.2650	9	0.87932	D	0	.	19.5248	0.95199	0.0:0.0:1.0:0.0	.	1745;1745	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1676;1745;1745	ENSP00000334319:P1745L;ENSP00000388393:P1745L	ENSP00000334319:P1745L	P	-	2	0	PCLO	82422971	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.835000	0.99442	2.624000	0.88883	0.650000	0.86243	CCG	PCLO	-	NULL	ENSG00000186472		0.488	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	51	0	G	NM_014510		82585035	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	11.11	64	8	SNP	1.000	A	A	82585035	G	A	82585035	3	1	160	1	0	0	0	0	1	0	0	0	11622	1116	39	1	10295	1	PCLO	7	82585035	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	746	82585035	76553628	158	40655											
SEMA3D	223117	genome.wustl.edu	37	chr7	84727257	84727257	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatgaacccaaaaagggaAtacagctatttgaaagcagc	17	7	9	8	0	0	3	0	3	0	0	0	4	0	4	1	1	5	2	1	1	7	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:84727257A>T	ENST00000284136.6	-	2	219	c.176T>A	c.(175-177)aTt>aAt	p.I59N	SEMA3D_ENST00000444867.1_Missense_Mutation_p.I59N	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	59	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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						CAAAAAGGGAATACAGCTATT	0.383																																					Ovarian(63;442 1191 17318 29975 31528)												0													79	83	82					7																	84727257		2203	4299	6502	SO:0001583	missense	0			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.176T>A	7.37:g.84727257A>T	ENSP00000284136:p.Ile59Asn		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.I59N	ENST00000284136.6	37	c.176	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	A	12.68	2.010555	0.35511	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.22945	1.93;1.93	5.55	4.41	0.53225	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.651645	0.17310	N	0.178909	T	0.20333	0.0489	L	0.39898	1.24	0.43222	D	0.995102	B;B	0.24132	0.098;0.091	B;B	0.21917	0.037;0.013	T	0.03148	-1.1067	10	0.15952	T	0.53	.	11.438	0.50078	0.9295:0.0:0.0705:0.0	.	59;59	C9JYT6;O95025	.;SEM3D_HUMAN	N	59	ENSP00000284136:I59N;ENSP00000401366:I59N	ENSP00000284136:I59N	I	-	2	0	SEMA3D	84565193	0.999000	0.42202	0.840000	0.33206	0.968000	0.65278	4.392000	0.59659	1.056000	0.40484	0.477000	0.44152	ATT	SEMA3D	-	superfamily_Semap_dom,pfscan_Semap_dom	ENSG00000153993		0.383	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	-	0	39	0	A	NM_152754		84727257	-1	tier1	-	no_errors	ENST00000284136	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.971	T	T	84727257	A	T	84727257	3	4	160	1	0	0	0	0	1	0	0	0	14072	101	4	5	2221	5	SEMA3D	7	84727257	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	2142222	84727257	74411406	159	40656											
ZNF804B	219578	genome.wustl.edu	37	chr7	88962746	88962746	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcaactccagcaaggaatTttccccattaagaatggcag	15	8	8	10	0	0	1	0	0	0	1	2	2	2	2	3	2	3	3	3	2	6	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:88962746T>G	ENST00000333190.4	+	4	1059	c.450T>G	c.(448-450)atT>atG	p.I150M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	150							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGCAAGGAATTTTCCCCATTA	0.393										HNSCC(36;0.09)																																							0													51	52	52					7																	88962746		2203	4299	6502	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.450T>G	7.37:g.88962746T>G	ENSP00000329638:p.Ile150Met		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.I150M	ENST00000333190.4	37	c.450	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198768	0.38806	.	.	ENSG00000182348	ENST00000333190	T	0.05996	3.36	5.27	0.114	0.14639	.	0.415614	0.23091	N	0.052038	T	0.03827	0.0108	L	0.36672	1.1	0.28092	N	0.931754	B	0.34372	0.451	B	0.28139	0.086	T	0.32375	-0.9909	10	0.62326	D	0.03	-6.4821	1.959	0.03382	0.1186:0.1954:0.1231:0.5629	.	150	A4D1E1	Z804B_HUMAN	M	150	ENSP00000329638:I150M	ENSP00000329638:I150M	I	+	3	3	ZNF804B	88800682	0.998000	0.40836	1.000000	0.80357	0.815000	0.46073	0.323000	0.19593	0.124000	0.18369	-0.472000	0.04984	ATT	ZNF804B	-	NULL	ENSG00000182348		0.393	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	57	0	T	NM_181646		88962746	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.991	G	G	88962746	T	G	88962746	3	3	160	1	0	0	0	0	1	0	0	0	18219	1829	64	4	464	4	ZNF804B	7	88962746	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	4235489	88962746	70175917	160	40657											
ZNF804B	219578	genome.wustl.edu	37	chr7	88963101	88963101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcaagtgctgcaggtttGcaaataaagatacacacctt	14	10	9	8	0	0	1	0	0	0	1	0	1	0	1	1	1	5	5	1	1	5	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:88963101G>T	ENST00000333190.4	+	4	1414	c.805G>T	c.(805-807)Gca>Tca	p.A269S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	269							metal ion binding (GO:0046872)	p.A269S(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGCAGGTTTGCAAATAAAGA	0.358										HNSCC(36;0.09)																																							1	Substitution - Missense(1)	lung(1)											72	67	68					7																	88963101		2202	4300	6502	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.805G>T	7.37:g.88963101G>T	ENSP00000329638:p.Ala269Ser		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.A269S	ENST00000333190.4	37	c.805	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	6.035	0.374843	0.11409	.	.	ENSG00000182348	ENST00000333190	T	0.04603	3.59	5.04	4.09	0.47781	.	0.243501	0.29293	N	0.012580	T	0.03871	0.0109	L	0.46157	1.445	0.29131	N	0.87965	P	0.47350	0.894	B	0.39935	0.314	T	0.23619	-1.0183	10	0.18276	T	0.48	-18.4188	3.2072	0.06670	0.0887:0.1265:0.4597:0.3251	.	269	A4D1E1	Z804B_HUMAN	S	269	ENSP00000329638:A269S	ENSP00000329638:A269S	A	+	1	0	ZNF804B	88801037	0.574000	0.26684	0.994000	0.49952	0.837000	0.47467	0.444000	0.21661	2.630000	0.89119	0.655000	0.94253	GCA	ZNF804B	-	NULL	ENSG00000182348		0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2		0	21	0	G	NM_181646		88963101	1			no_errors	ENST00000333190	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.908	T	T	88963101	G	T	88963101	3	4	160	1	0	0	0	0	1	0	0	0	18219	1319	46	3	819	3	ZNF804B	7	88963101	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	355	88963101	70175562	161	40658											
FZD1	8321	genome.wustl.edu	37	chr7	90894459	90894460	+	In_Frame_Ins	INS	-	-	CCG																															ggcccgggccggggcagcaaINSccgccgccgccgcctcagca																								rs71292991|rs139480179	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:90894459_90894460insCCG	ENST00000287934.2	+	1	677_678	c.264_265insCCG	c.(265-267)ccg>CCGccg	p.89_89P>PP		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	89	Poly-Pro.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Q88_P89insP(2)|p.Q88_P89insA(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			cggggcAGCAACCGCCGCCGCC	0.743														1874	0.374201	0.4047	0.4625	5008	,	,		10872	0.2986		0.4294	False		,,,				2504	0.2914																3	Insertion - In frame(3)	breast(2)|liver(1)								1606,5,2563		359,2,886,0,3,837						0.6	1		dbSNP_134	11	3182,3,4959		703,0,1776,1,1,1591	no	codingComplex	FZD1	NM_003505.1		1062,2,2662,1,4,2428	A1A1,A1A2,A1R,A2A2,A2R,RR		39.1085,38.5961,38.9349				4788,8,7522				SO:0001652	inframe_insertion	0			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.274_276dupCCG	7.37:g.90894466_90894468dupCCG	ENSP00000287934:p.Pro93dup		A4D1E8|O94815|Q549T8	In_Frame_Ins	INS	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.92in_frame_insP	ENST00000287934.2	37	c.264_265	CCDS5620.1	7																																																																																			FZD1	-	NULL	ENSG00000157240		0.743	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	HGNC	protein_coding	OTTHUMT00000059367.2		0	14	0	-	NM_003505		90894460	1	tier1		no_errors	ENST00000287934	ensembl	human	known	74_37	in_frame_ins	27.78	13	5	INS	0.006:0.934	CCG	CCG	90894460	-	CCG	90894459	7	5	160	1	0	1	1	0	0	0	0	0	6152	40	2	0	266	0	FZD1	7	90894459	In_Frame_Ins	INS	-	TCGA-V5-AASX-01A-11D-A387-09	1931358	90894459	68244204	162	40659											
DYNC1I1	1780	genome.wustl.edu	37	chr7	95625347	95625347	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttggtttggaacatgaagTttaagaaaaccacaccagaa	16	9	8	8	0	0	3	0	1	0	2	0	4	0	4	3	2	2	2	3	2	6	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:95625347T>G	ENST00000324972.6	+	10	1175	c.982T>G	c.(982-984)Ttt>Gtt	p.F328V	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.F291V|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.F308V|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.F311V|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.F291V|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.F311V	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	328					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)			GAACATGAAGTTTAAGAAAAC	0.433																																																	0													200	178	185					7																	95625347		2203	4300	6503	SO:0001583	missense	0			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.982T>G	7.37:g.95625347T>G	ENSP00000320130:p.Phe328Val		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.F328V	ENST00000324972.6	37	c.982	CCDS5644.1	7	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321069	0.81580	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.73897	-0.57;-0.57;-0.79;-0.57;-0.56;-0.57	4.89	4.89	0.63831	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	0.81375	0.4809	M	0.71206	2.165	0.80722	D	1	P;P;P;P;P	0.51933	0.914;0.712;0.949;0.588;0.481	P;P;P;B;B	0.54140	0.558;0.559;0.743;0.359;0.205	D	0.83986	0.0335	10	0.66056	D	0.02	-17.1069	14.9777	0.71286	0.0:0.0:0.0:1.0	.	311;308;311;328;291	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	V	311;328;291;308;291;311	ENSP00000392337:F311V;ENSP00000320130:F328V;ENSP00000438377:F291V;ENSP00000398118:F308V;ENSP00000352348:F291V;ENSP00000412444:F311V	ENSP00000320130:F328V	F	+	1	0	DYNC1I1	95463283	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.868000	0.87116	2.194000	0.70268	0.533000	0.62120	TTT	DYNC1I1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000158560		0.433	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	-	0	117	0	T	NM_004411		95625347	1	tier1	-	no_errors	ENST00000324972	ensembl	human	known	74_37	missense	12.73	96	14	SNP	1.000	G	G	95625347	T	G	95625347	3	3	160	1	0	0	0	0	1	0	0	0	4856	1725	60	4	1016	4	DYNC1I1	7	95625347	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	4730888	95625347	63513316	163	40660											
SLC25A13	10165	genome.wustl.edu	37	chr7	95751185	95751185	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagagcttttggtccttcTtcacgcagtatctttctaaa	9	15	6	11	1	4	1	1	0	3	1	5	1	5	1	1	1	1	3	1	1	3	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:95751185T>G	ENST00000265631.5	-	16	1852	c.1716A>C	c.(1714-1716)gaA>gaC	p.E572D	SLC25A13_ENST00000542654.1_Missense_Mutation_p.E464D|SLC25A13_ENST00000416240.2_Missense_Mutation_p.E573D|SLC25A13_ENST00000494085.1_5'UTR			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	572					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)	TTGGTCCTTCTTCACGCAGTA	0.428																																																	0													133	125	128					7																	95751185		2203	4300	6503	SO:0001583	missense	0			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.1716A>C	7.37:g.95751185T>G	ENSP00000265631:p.Glu572Asp		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E573D	ENST00000265631.5	37	c.1719	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	T	16.29	3.082521	0.55861	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80738	-1.41;-1.41;-1.41	5.04	-1.7	0.08159	Mitochondrial carrier domain (2);	0.185306	0.46442	D	0.000291	D	0.82811	0.5118	L	0.41124	1.26	0.58432	D	0.999992	D;D;D	0.67145	0.982;0.996;0.996	D;D;D	0.72075	0.911;0.976;0.976	T	0.81172	-0.1054	10	0.62326	D	0.03	-23.193	14.1437	0.65336	0.0:0.6154:0.0:0.3846	.	464;573;572	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	D	572;573;464	ENSP00000265631:E572D;ENSP00000400101:E573D;ENSP00000440484:E464D	ENSP00000265631:E572D	E	-	3	2	SLC25A13	95589121	0.950000	0.32346	0.992000	0.48379	0.617000	0.37484	0.097000	0.15168	-0.346000	0.08312	-0.441000	0.05720	GAA	SLC25A13	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000004864		0.428	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2	-	0	41	0	T	NM_014251		95751185	-1	tier1	-	no_errors	ENST00000416240	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	G	G	95751185	T	G	95751185	3	3	160	1	0	0	0	0	1	0	0	0	14520	1606	56	4	323	4	SLC25A13	7	95751185	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	125838	95751185	63387478	164	40661											
TECPR1	25851	genome.wustl.edu	37	chr7	97860397	97860397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcggccctgcaccttccGgctctcgcagcaagacaggc	6	5	13	17	4	1	1	0	0	1	1	3	1	2	1	3	4	2	4	3	4	1	1	rs372050077		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:97860397G>A	ENST00000447648.2	-	15	2457	c.2158C>T	c.(2158-2160)Cgg>Tgg	p.R720W	TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000542604.1_Missense_Mutation_p.R650W|TECPR1_ENST00000379795.3_Missense_Mutation_p.R721W			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	720					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						TGCACCTTCCGGCTCTCGCAG	0.682																																																	0								G	TRP/ARG	0,4250		0,0,2125	18	25	23		2158	4.7	1	7		23	1,8413		0,1,4206	no	missense	TECPR1	NM_015395.1	101	0,1,6331	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging	720/1166	97860397	1,12663	2125	4207	6332	SO:0001583	missense	0				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.2158C>T	7.37:g.97860397G>A	ENSP00000404923:p.Arg720Trp		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.R721W	ENST00000447648.2	37	c.2161	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597396	0.66332	0.0	1.19E-4	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.37235	1.23;1.23;1.21	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.72118	2.19	0.48236	D	0.999617	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.59595	-0.7425	10	0.66056	D	0.02	-48.5434	11.0379	0.47814	0.0:0.0:0.7025:0.2975	.	650;720	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	W	720;721;650	ENSP00000404923:R720W;ENSP00000369121:R721W;ENSP00000441121:R650W	ENSP00000369121:R721W	R	-	1	2	TECPR1	97698333	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.438000	0.44837	2.323000	0.78572	0.462000	0.41574	CGG	TECPR1	-	smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.682	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	-	0	143	0	G	NM_015395		97860397	-1	tier1	-	no_errors	ENST00000379795	ensembl	human	known	74_37	missense	5.49	86	5	SNP	1.000	A	A	97860397	G	A	97860397	3	1	160	1	0	0	0	0	1	0	0	0	15790	1115	39	1	1387	1	TECPR1	7	97860397	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2109212	97860397	61278266	165	40662											
TRRAP	8295	genome.wustl.edu	37	chr7	98550994	98550994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccagcctgcaagtacagcGgacacttgctcctggcgcac	9	6	10	16	2	0	0	0	0	0	0	1	1	1	1	3	2	5	4	3	2	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:98550994G>A	ENST00000359863.4	+	39	5856	c.5647G>A	c.(5647-5649)Gga>Aga	p.G1883R	TRRAP_ENST00000355540.3_Missense_Mutation_p.G1865R|TRRAP_ENST00000446306.3_Missense_Mutation_p.G1864R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1883					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.G1883R(1)|p.G1865R(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)			CAAGTACAGCGGACACTTGCT	0.587																																																	2	Substitution - Missense(2)	large_intestine(2)											121	95	104					7																	98550994		2203	4300	6503	SO:0001583	missense	0			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.5647G>A	7.37:g.98550994G>A	ENSP00000352925:p.Gly1883Arg		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G1883R	ENST00000359863.4	37	c.5647	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.142909	0.94560	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.63417	-0.04;-0.04	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.82235	0.4993	M	0.83953	2.67	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	0.83697	0.0180	10	0.87932	D	0	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	1865;1604;1883	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	R	1883;1865;1863	ENSP00000352925:G1883R;ENSP00000347733:G1865R	ENSP00000347733:G1865R	G	+	1	0	TRRAP	98388930	1.000000	0.71417	0.660000	0.29694	0.771000	0.43674	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	GGA	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.587	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	33	0	G	NM_003496		98550994	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	18.57	57	13	SNP	1.000	A	A	98550994	G	A	98550994	3	1	160	1	0	0	0	0	1	0	0	0	16649	1117	39	1	5739	1	TRRAP	7	98550994	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	690597	98550994	60587669	166	40663											
EPHB4	2050	genome.wustl.edu	37	chr7	100403299	100403299	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggggcagccggtagtcctgTtcaatggcattgatcacctg	7	10	14	10	1	2	1	2	1	0	0	3	1	3	1	3	4	1	4	3	4	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:100403299T>A	ENST00000358173.3	-	15	2970	c.2502A>T	c.(2500-2502)gaA>gaT	p.E834D	EPHB4_ENST00000360620.3_Missense_Mutation_p.E834D	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	834	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTAGTCCTGTTCAATGGCAT	0.587																																					GBM(200;2113 3072 25865 52728)												0													50	55	53					7																	100403299		2202	4300	6502	SO:0001583	missense	0			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.2502A>T	7.37:g.100403299T>A	ENSP00000350896:p.Glu834Asp		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E834D	ENST00000358173.3	37	c.2502	CCDS5706.1	7	.	.	.	.	.	.	.	.	.	.	T	17.52	3.411311	0.62399	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.83419	-1.72;-1.72	4.95	-2.7	0.06004	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000110	T	0.81781	0.4895	N	0.25332	0.735	0.47407	D	0.99941	D;D	0.65815	0.967;0.995	P;D	0.77004	0.805;0.989	T	0.78048	-0.2356	10	0.42905	T	0.14	.	11.6996	0.51562	0.0:0.6252:0.0:0.3748	.	834;834	Q96L35;P54760	.;EPHB4_HUMAN	D	834	ENSP00000353833:E834D;ENSP00000350896:E834D	ENSP00000350896:E834D	E	-	3	2	EPHB4	100241235	0.620000	0.27068	0.996000	0.52242	0.852000	0.48524	-0.134000	0.10436	-0.251000	0.09542	0.379000	0.24179	GAA	EPHB4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000196411		0.587	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	-	0	109	0	T	NM_004444		100403299	-1	tier1	-	no_errors	ENST00000358173	ensembl	human	known	74_37	missense	8.86	72	7	SNP	0.993	A	A	100403299	T	A	100403299	3	1	160	1	0	0	0	0	1	0	0	0	5193	1722	60	5	473	5	EPHB4	7	100403299	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	1852305	100403299	58735364	167	40664											
MUC17	140453	genome.wustl.edu	37	chr7	100675650	100675650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccagttcatctcctacaaCggctgaaggcaccagcatac	12	7	8	14	1	2	1	1	1	1	0	3	1	2	1	3	2	5	4	3	2	4	3	rs527980140		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:100675650C>T	ENST00000306151.4	+	3	1017	c.953C>T	c.(952-954)aCg>aTg	p.T318M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	318	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)					TCTCCTACAACGGCTGAAGGC	0.502													C|||	1	0.000199681	8e-04	0	5008	,	,		23459	0		0	False		,,,				2504	0																0													185	194	191					7																	100675650		2203	4300	6503	SO:0001583	missense	0			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.953C>T	7.37:g.100675650C>T	ENSP00000302716:p.Thr318Met		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.T318M	ENST00000306151.4	37	c.953	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	0.985	-0.695920	0.03279	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	1.17	-1.18	0.09617	.	.	.	.	.	T	0.01254	0.0041	N	0.19112	0.55	0.09310	N	1	P	0.49961	0.93	B	0.26693	0.072	T	0.47911	-0.9080	9	0.49607	T	0.09	.	1.9355	0.03336	0.264:0.3518:0.0:0.3842	.	318	Q685J3	MUC17_HUMAN	M	318	ENSP00000302716:T318M	ENSP00000302716:T318M	T	+	2	0	MUC17	100462370	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.545000	0.23268	-0.375000	0.07955	-0.549000	0.04216	ACG	MUC17	-	NULL	ENSG00000169876		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	133	0	C	NM_001040105		100675650	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	12.73	96	14	SNP	0.001	T	T	100675650	C	T	100675650	3	4	160	1	0	0	0	0	1	0	0	0	10012	536	19	1	963	1	MUC17	7	100675650	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	272351	100675650	58463013	168	40665											
VGF	7425	genome.wustl.edu	37	chr7	100806935	100806936	+	Frame_Shift_Del	DEL	CT	CT	-																															ggagcgcgttctgccgcgccCtctccgcctcctccgcctct																										TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:100806935_100806936delCT	ENST00000249330.2	-	2	1428_1429	c.1189_1190delAG	c.(1189-1191)aggfs	p.R397fs	VGF_ENST00000445482.2_Frame_Shift_Del_p.R397fs	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	397	Asp/Glu-rich (acidic).				defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGCCGCGCCCTctccgcctcc	0.743																																																	0																																										SO:0001589	frameshift_variant	0			Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"neuro-endocrine specific protein VGF"	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.1189_1190delAG	7.37:g.100806937_100806938delCT	ENSP00000249330:p.Arg397fs		Q9UDW8	Frame_Shift_Del	DEL	NULL	p.R397fs	ENST00000249330.2	37	c.1190_1189	CCDS5712.1	7																																																																																			VGF	-	NULL	ENSG00000128564		0.743	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGF	HGNC	protein_coding	OTTHUMT00000347462.1		0	47	0	CT	NM_003378		100806936	-1	tier1		no_errors	ENST00000249330	ensembl	human	known	74_37	frame_shift_del	13.46	45	7	DEL	1.000:1.000	-	-	100806936	CT	-	100806935	7	5	160	1	0	1	0	1	0	0	0	0	17206	681	24	0	661	0	VGF	7	100806935	Frame_Shift_Del	DEL	CT	TCGA-V5-AASX-01A-11D-A387-09	131285	100806935	58331728	169	40666											
LHFPL3	375612	genome.wustl.edu	37	chr7	103969251	103969251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagccgccgccgctgcCgccgccgccgccgccgcgat	2	2	14	23	11	0	0	0	0	0	0	0	2	0	1	10	1	2	1	10	1	0	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:103969251C>T	ENST00000535008.1	+	1	148	c.24C>T	c.(22-24)gcC>gcT	p.A8A	LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A8A|LHFPL3_ENST00000401970.2_5'UTR			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	8						integral component of membrane (GO:0016021)		p.A8A(1)		kidney(1)|large_intestine(2)|lung(6)	9						ccgccgctgccgccgccgccg	0.721																																																	1	Substitution - coding silent(1)	kidney(1)											11	14	13					7																	103969251		1949	4092	6041	SO:0001819	synonymous_variant	0			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.24C>T	7.37:g.103969251C>T			A1L383|A4D0Q5	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.A8	ENST00000535008.1	37	c.24		7																																																																																			LHFPL3	-	NULL	ENSG00000187416		0.721	LHFPL3-201	KNOWN	basic	protein_coding	LHFPL3	HGNC	protein_coding			0	29	0	C	NM_199000		103969251	1			no_errors	ENST00000535008	ensembl	human	known	74_37	silent	10.53	17	2	SNP	1.000	T	T	103969251	C	T	103969251	2	4	160	1	0	0	0	0	0	0	0	1	8795	639	23	1		1	LHFPL3	7	103969251	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	3162316	103969251	55169412	170	40667											
DOCK4	9732	genome.wustl.edu	37	chr7	111624408	111624408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttccggatccaccattgCgtactctttcctaggcacca	7	12	7	15	2	2	0	0	0	2	0	5	1	5	1	5	2	2	2	5	2	2	5	rs368007201		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:111624408C>T	ENST00000437633.1	-	7	758	c.502G>A	c.(502-504)Gca>Aca	p.A168T	DOCK4_ENST00000428084.1_Missense_Mutation_p.A168T|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	168					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)				TCCACCATTGCGTACTCTTTC	0.428																																																	0								C	THR/ALA	1,3765		0,1,1882	79	78	78		502	4	1	7		78	0,8226		0,0,4113	no	missense	DOCK4	NM_014705.3	58	0,1,5995	TT,TC,CC		0.0,0.0266,0.0083	benign	168/1967	111624408	1,11991	1883	4113	5996	SO:0001583	missense	0				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.502G>A	7.37:g.111624408C>T	ENSP00000404179:p.Ala168Thr		O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.A168T	ENST00000437633.1	37	c.502	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990473	0.35131	2.66E-4	0.0	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.02916	4.11;4.11	4.87	3.98	0.46160	.	0.163209	0.53938	D	0.000048	T	0.02571	0.0078	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.31290	0.214;0.318;0.318;0.318	B;B;B;B	0.26969	0.03;0.047;0.075;0.03	T	0.56444	-0.7978	10	0.15499	T	0.54	.	13.7925	0.63150	0.1546:0.8454:0.0:0.0	.	168;168;168;168	A4D0S8;Q149N6;Q149N5;Q8N1I0	.;.;.;DOCK4_HUMAN	T	156;168;168;156;167	ENSP00000410746:A168T;ENSP00000404179:A168T	ENSP00000345432:A156T	A	-	1	0	DOCK4	111411644	1.000000	0.71417	0.964000	0.40570	0.849000	0.48306	3.148000	0.50647	1.149000	0.42402	0.655000	0.94253	GCA	DOCK4	-	NULL	ENSG00000128512		0.428	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	-	0	49	0	C	NM_014705		111624408	-1	tier1	-	no_errors	ENST00000428084	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	T	T	111624408	C	T	111624408	3	4	160	1	0	0	0	0	1	0	0	0	4703	768	27	1	5582	1	DOCK4	7	111624408	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	7655157	111624408	47514255	171	40668											
GRM8	2918	genome.wustl.edu	37	chr7	126086144	126086144	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctattaggaagtgctccCgctcttgaccatcggaaact	10	11	8	12	2	2	1	0	1	2	0	4	3	3	3	2	2	2	2	2	2	4	3	rs199813417		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:126086144C>T	ENST00000339582.2	-	10	3486				GRM8_ENST00000358373.3_Missense_Mutation_p.G905R|GRM8_ENST00000444921.2_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8						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)				GAAGTGCTCCCGCTCTTGACC	0.448										HNSCC(24;0.065)																																							0													139	132	134					7																	126086144		2203	4300	6503	SO:0001627	intron_variant	0				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.2677+35G>A	7.37:g.126086144C>T			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.G905R	ENST00000339582.2	37	c.2713	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130925	0.56828	.	.	ENSG00000179603	ENST00000358373	D	0.88818	-2.43	6.07	6.07	0.98685	.	.	.	.	.	T	0.80177	0.4575	N	0.08118	0	0.80722	D	1	B	0.17465	0.022	B	0.08055	0.003	T	0.73733	-0.3890	9	0.41790	T	0.15	.	17.8085	0.88608	0.0:1.0:0.0:0.0	.	905	O00222-2	.	R	905	ENSP00000351142:G905R	ENSP00000351142:G905R	G	-	1	0	GRM8	125873380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.319000	0.59197	2.890000	0.99128	0.585000	0.79938	GGG	GRM8	-	NULL	ENSG00000179603		0.448	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0	40	0	C			126086144	-1			no_errors	ENST00000358373	ensembl	human	known	74_37	missense	8.00	45	4	SNP	1.000	T	T	126086144	C	T	126086144	1	4	160	0	1	0	0	0	0	0	0	0	6830	652	23	1		1	GRM8	7	126086144	Intron	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	14461736	126086144	33052519	172	40669											
CASP2	835	genome.wustl.edu	37	chr7	142991840	142991840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttttgggctatgacgtcCatgttctatgtgaccagact	8	14	10	9	1	1	3	0	2	1	1	2	3	2	3	2	1	1	3	2	1	2	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:142991840C>T	ENST00000310447.5	+	6	962	c.721C>T	c.(721-723)Cat>Tat	p.H241Y	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	241					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					CTATGACGTCCATGTTCTATG	0.468																																																	0													90	73	79					7																	142991840		2203	4300	6503	SO:0001583	missense	0			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1503	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 57"	600639	"neural precursor cell expressed, developmentally down-regulated 2"	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.721C>T	7.37:g.142991840C>T	ENSP00000312664:p.His241Tyr		A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.H241Y	ENST00000310447.5	37	c.721	CCDS5879.1	7	.	.	.	.	.	.	.	.	.	.	C	0.138	-1.105663	0.01828	.	.	ENSG00000106144	ENST00000310447;ENST00000392923	T	0.20881	2.04	5.92	4.99	0.66335	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.540708	0.23405	N	0.048534	T	0.14141	0.0342	N	0.19112	0.55	0.80722	D	1	B	0.18968	0.032	B	0.22601	0.04	T	0.04333	-1.0959	10	0.51188	T	0.08	.	9.6875	0.40107	0.1401:0.5496:0.3102:0.0	.	241	P42575	CASP2_HUMAN	Y	241;210	ENSP00000312664:H241Y	ENSP00000312664:H241Y	H	+	1	0	CASP2	142701962	0.051000	0.20477	0.825000	0.32803	0.153000	0.21895	2.587000	0.46128	2.820000	0.97059	0.650000	0.86243	CAT	CASP2	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	ENSG00000106144		0.468	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP2	HGNC	protein_coding	OTTHUMT00000059962.3	-	0	46	0	C	NM_032982		142991840	1	tier1	-	no_errors	ENST00000310447	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.934	T	T	142991840	C	T	142991840	3	4	160	1	0	0	0	0	1	0	0	0	2678	594	21	3	743	3	CASP2	7	142991840	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	16905696	142991840	16146823	173	40670											
MTMR9	66036	genome.wustl.edu	37	chr8	11162418	11162418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcttacccaccaattgtCacagtgcccaaatccatcga	11	9	4	17	1	2	0	1	0	1	0	4	1	3	0	5	0	2	0	5	0	3	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:11162418C>T	ENST00000221086.3	+	4	959	c.486C>T	c.(484-486)gtC>gtT	p.V162V	MTMR9_ENST00000526292.1_Silent_p.V77V	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	162	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					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)		CACCAATTGTCACAGTGCCCA	0.428																																																	0													256	214	228					8																	11162418		2203	4300	6503	SO:0001819	synonymous_variant	0			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.486C>T	8.37:g.11162418C>T			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	pfam_Myotubularin-like_Pase_dom	p.V162	ENST00000221086.3	37	c.486	CCDS5979.1	8																																																																																			MTMR9	-	pfam_Myotubularin-like_Pase_dom	ENSG00000104643		0.428	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2	-	0	88	0	C	NM_015458		11162418	1	tier1	-	no_errors	ENST00000221086	ensembl	human	known	74_37	silent	23.36	105	32	SNP	0.995	T	T	11162418	C	T	11162418	2	4	160	1	0	0	0	0	0	0	0	1	9988	813	29	3		3	MTMR9	8	11162418	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09		11162418	135201604	174	40671											
USP17L2	377630	genome.wustl.edu	37	chr8	11996159	11996159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagagtggtgacttctcaggGagagaagtccgctggatttc	9	10	15	7	1	1	3	1	1	1	2	4	7	2	5	1	3	0	1	1	3	1	2	rs368449254		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:11996159G>A	ENST00000333796.3	-	1	427	c.111C>T	c.(109-111)ctC>ctT	p.L37L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	37					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACTTCTCAGGGAGAGAAGTCC	0.517																																																	0								G		3,2241		0,3,1119	30	37	35		111	-0.7	0	8		35	0,5028		0,0,2514	no	coding-synonymous	USP17L2	NM_201402.2		0,3,3633	AA,AG,GG		0.0,0.1337,0.0413		37/531	11996159	3,7269	1122	2514	3636	SO:0001819	synonymous_variant	0			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.111C>T	8.37:g.11996159G>A				Silent	SNP	pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.L37	ENST00000333796.3	37	c.111	CCDS43713.1	8																																																																																			USP17L2	-	NULL	ENSG00000223443		0.517	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	-	0	158	0	G	NM_201402		11996159	-1	tier1	-	no_errors	ENST00000333796	ensembl	human	known	74_37	silent	6.72	125	9	SNP	0.023	A	A	11996159	G	A	11996159	2	1	160	1	0	0	0	0	0	0	0	1	17097	1161	41	3		3	USP17L2	8	11996159	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	833741	11996159	134367863	175	40672											
LONRF1	91694	genome.wustl.edu	37	chr8	12595527	12595527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgggctaggttcattgaGagactgagactcttccatca	9	13	10	9	0	3	3	2	2	1	2	4	5	4	3	1	2	0	2	1	2	1	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:12595527G>A	ENST00000398246.3	-	4	1159	c.1090C>T	c.(1090-1092)Ctc>Ttc	p.L364F	LONRF1_ENST00000530693.1_5'Flank|LONRF1_ENST00000533751.1_Missense_Mutation_p.L7F	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	364							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GGTTCATTGAGAGACTGAGAC	0.398																																																	0													117	105	109					8																	12595527		1873	4114	5987	SO:0001583	missense	0			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1090C>T	8.37:g.12595527G>A	ENSP00000381298:p.Leu364Phe		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.L364F	ENST00000398246.3	37	c.1090	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	G	1.710	-0.499377	0.04291	.	.	ENSG00000154359	ENST00000398246;ENST00000533751	T;T	0.80738	0.83;-1.41	5.35	2.58	0.30949	.	0.191435	0.16346	U	0.218424	T	0.63082	0.2481	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44982	-0.9292	10	0.19147	T	0.46	-0.9129	10.296	0.43625	0.0:0.4435:0.4264:0.1301	.	364	Q17RB8	LONF1_HUMAN	F	364;7	ENSP00000381298:L364F;ENSP00000432130:L7F	ENSP00000381298:L364F	L	-	1	0	LONRF1	12639898	0.001000	0.12720	0.008000	0.14137	0.025000	0.11179	0.266000	0.18534	0.465000	0.27167	-0.122000	0.15005	CTC	LONRF1	-	NULL	ENSG00000154359		0.398	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	-	0	103	0	G	NM_152271		12595527	-1	tier1	-	no_errors	ENST00000398246	ensembl	human	known	74_37	missense	18.38	111	25	SNP	0.001	A	A	12595527	G	A	12595527	3	1	160	1	0	0	0	0	1	0	0	0	8929	942	33	3	1267	3	LONRF1	8	12595527	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	599368	12595527	133768495	176	40673											
INTS10	55174	genome.wustl.edu	37	chr8	19687983	19687983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagtcaataaagccgaaCttgctaactccactgaagtg	13	11	8	9	1	1	1	1	1	0	0	2	2	2	1	2	0	4	2	2	0	7	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:19687983C>T	ENST00000397977.3	+	10	1605	c.1207C>T	c.(1207-1209)Ctt>Ttt	p.L403F		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	403					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)		TAAAGCCGAACTTGCTAACTC	0.423																																																	0													121	111	114					8																	19687983		1885	4118	6003	SO:0001583	missense	0			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.1207C>T	8.37:g.19687983C>T	ENSP00000381064:p.Leu403Phe		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.L403F	ENST00000397977.3	37	c.1207	CCDS6011.2	8	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972212	0.74246	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.96	5.96	0.96718	.	0.108809	0.64402	D	0.000006	T	0.61527	0.2354	L	0.29908	0.895	0.48236	D	0.999611	D	0.54047	0.964	P	0.54210	0.745	T	0.61589	-0.7032	9	0.54805	T	0.06	-20.2719	18.9858	0.92769	0.0:1.0:0.0:0.0	.	403	Q9NVR2	INT10_HUMAN	F	403	.	ENSP00000381064:L403F	L	+	1	0	INTS10	19732263	1.000000	0.71417	0.140000	0.22221	0.877000	0.50540	5.695000	0.68279	2.832000	0.97577	0.655000	0.94253	CTT	INTS10	-	NULL	ENSG00000104613		0.423	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2	-	0	74	0	C	NM_018142		19687983	1	tier1	-	no_errors	ENST00000397977	ensembl	human	known	74_37	missense	10.34	78	9	SNP	0.940	T	T	19687983	C	T	19687983	3	4	160	1	0	0	0	0	1	0	0	0	7803	565	20	3	1245	3	INTS10	8	19687983	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	7092456	19687983	126676039	177	40674											
ADAM7	8756	genome.wustl.edu	37	chr8	24324312	24324312	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgttcccaatttctacagGggattcttcagaataaacga	12	13	8	8	1	3	1	1	0	2	1	4	3	4	2	1	2	2	1	1	2	5	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:24324312G>T	ENST00000175238.6	+	6	473	c.390G>T	c.(388-390)agG>agT	p.R130S	ADAM7_ENST00000380789.1_Splice_Site_p.R130S|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Splice_Site_p.R130S|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATTTCTACAGGGGATTCTTCA	0.378																																																	0													78	79	79					8																	24324312		2203	4300	6503	SO:0001630	splice_region_variant	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.390-1G>T	8.37:g.24324312G>T			A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R130S	ENST00000175238.6	37	c.390	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279801	0.40294	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.06849	3.25;3.25;3.25	5.4	2.54	0.30619	Peptidase M12B, propeptide (1);	0.107308	0.42172	N	0.000757	T	0.10723	0.0262	M	0.68728	2.09	0.80722	D	1	B;B	0.27700	0.17;0.186	B;B	0.35859	0.11;0.212	T	0.09228	-1.0684	9	.	.	.	.	5.2849	0.15696	0.1709:0.0:0.6683:0.1608	.	130;130	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	S	130	ENSP00000393073:R130S;ENSP00000175238:R130S;ENSP00000370166:R130S	.	R	+	3	2	ADAM7	24380202	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	0.221000	0.17680	0.361000	0.24292	0.561000	0.74099	AGG	ADAM7	-	pfam_Peptidase_M12B_N	ENSG00000069206		0.378	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0	73	0	G	NM_003817	Missense_Mutation	24324312	1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T	T	24324312	G	T	24324312	5	4	160	1	0	0	0	0	0	0	1	0	251	1246	43	3	412	3	ADAM7	8	24324312	Splice_Site	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	4636329	24324312	122039710	178	40675											
KCNU1	157855	genome.wustl.edu	37	chr8	36780046	36780046	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttattgaacagcttggtGgactggaagggtccctccaa	10	11	11	9	0	0	1	0	1	0	0	2	3	2	3	2	4	2	1	2	4	4	4	rs368253838		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:36780046G>T	ENST00000399881.3	+	24	2672	c.2635G>T	c.(2635-2637)Gga>Tga	p.G879*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	879					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)		ACAGCTTGGTGGACTGGAAGG	0.458																																																	0													138	135	136					8																	36780046		1916	4128	6044	SO:0001587	stop_gained	0			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.2635G>T	8.37:g.36780046G>T	ENSP00000382770:p.Gly879*			Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.G879*	ENST00000399881.3	37	c.2635	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.961023	0.97151	.	.	ENSG00000215262	ENST00000399881	.	.	.	5.32	5.32	0.75619	.	0.197750	0.24022	U	0.042263	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.5738	11.6234	0.51132	0.0:0.0:0.8226:0.1774	.	.	.	.	X	879	.	ENSP00000382770:G879X	G	+	1	0	KCNU1	36899204	0.980000	0.34600	0.913000	0.36048	0.387000	0.30353	0.844000	0.27654	2.485000	0.83878	0.655000	0.94253	GGA	KCNU1	-	NULL	ENSG00000215262		0.458	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0	88	0	G	NM_001031836		36780046	1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	nonsense	11.24	79	10	SNP	0.687	T	T	36780046	G	T	36780046	4	4	160	1	0	0	0	0	0	1	0	0	8120	1349	47	3	2729	3	KCNU1	8	36780046	Nonsense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	12455734	36780046	109583976	179	40676											
ADAM32	203102	genome.wustl.edu	37	chr8	39114802	39114802	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgtaacaaccgcaatagTtttggcaaggaaacagttga	15	10	9	7	1	0	1	0	1	0	0	0	2	0	2	1	2	3	5	1	2	6	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:39114802T>G	ENST00000379907.4	+	19	2229	c.2102T>G	c.(2101-2103)gTt>gGt	p.V701G	ADAM32_ENST00000519315.1_Missense_Mutation_p.V595G|ADAM32_ENST00000437682.2_Missense_Mutation_p.V602G	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	701						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)			ACCGCAATAGTTTTGGCAAGG	0.403																																																	0													137	137	137					8																	39114802		1826	4082	5908	SO:0001583	missense	0			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.2102T>G	8.37:g.39114802T>G	ENSP00000369238:p.Val701Gly		Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.V701G	ENST00000379907.4	37	c.2102	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	T	8.594	0.885209	0.17540	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.89196	-2.48;-2.48;-2.48	4.39	-3.65	0.04502	.	1.764870	0.03949	N	0.288246	D	0.83408	0.5248	L	0.41824	1.3	0.09310	N	1	B;B;B;B	0.20459	0.003;0.045;0.0;0.027	B;B;B;B	0.25506	0.003;0.061;0.0;0.033	T	0.68622	-0.5360	10	0.44086	T	0.13	.	7.1361	0.25529	0.0:0.1727:0.1467:0.6806	.	602;125;595;701	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	G	602;595;701	ENSP00000405978:V602G;ENSP00000429422:V595G;ENSP00000369238:V701G	ENSP00000369238:V701G	V	+	2	0	ADAM32	39233959	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.623000	0.05546	-0.677000	0.05231	-0.242000	0.12053	GTT	ADAM32	-	NULL	ENSG00000197140		0.403	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	-	0	50	0	T	NM_145004		39114802	1	tier1	-	no_errors	ENST00000379907	ensembl	human	known	74_37	missense	18.75	78	18	SNP	0.000	G	G	39114802	T	G	39114802	3	3	160	1	0	0	0	0	1	0	0	0	249	1725	60	4	2176	4	ADAM32	8	39114802	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	2334756	39114802	107249220	180	40677											
PREX2	80243	genome.wustl.edu	37	chr8	69020462	69020462	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgtcaatgtgatggaagTttcttatcccaaaacatcaa	14	12	6	9	0	3	1	2	1	1	0	4	2	4	2	2	1	1	1	2	1	6	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:69020462T>G	ENST00000288368.4	+	24	3111	c.2834T>G	c.(2833-2835)gTt>gGt	p.V945G		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	945					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						GTGATGGAAGTTTCTTATCCC	0.423																																																	0													127	113	118					8																	69020462		2203	4300	6503	SO:0001583	missense	0			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.2834T>G	8.37:g.69020462T>G	ENSP00000288368:p.Val945Gly		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V945G	ENST00000288368.4	37	c.2834	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782612	0.90282	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.44482	0.92	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67292	-0.5707	10	0.87932	D	0	.	15.971	0.80019	0.0:0.0:0.0:1.0	.	1010;945	Q70Z35-2;Q70Z35	.;PREX2_HUMAN	G	945;1011	ENSP00000288368:V945G	ENSP00000288368:V945G	V	+	2	0	PREX2	69183016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.175000	0.68902	0.533000	0.62120	GTT	PREX2	-	NULL	ENSG00000046889		0.423	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	74	0	T	NM_025170		69020462	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	9.35	97	10	SNP	1.000	G	G	69020462	T	G	69020462	3	3	160	1	0	0	0	0	1	0	0	0	12519	1725	60	4	3157	4	PREX2	8	69020462	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	29905660	69020462	77343560	181	40678											
SULF1	23213	genome.wustl.edu	37	chr8	70515465	70515465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	caacattgacttggcccccaCgatcctggatattgctgggc	8	10	10	13	1	0	1	0	1	0	0	1	3	1	2	3	3	2	1	3	3	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:70515465C>T	ENST00000260128.4	+	11	1817	c.1100C>T	c.(1099-1101)aCg>aTg	p.T367M	SULF1_ENST00000402687.4_Missense_Mutation_p.T367M|SULF1_ENST00000458141.2_Missense_Mutation_p.T367M|SULF1_ENST00000419716.3_Missense_Mutation_p.T367M|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	367					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)			TTGGCCCCCACGATCCTGGAT	0.542																																																	0													215	182	193					8																	70515465		2203	4300	6503	SO:0001583	missense	0			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.1100C>T	8.37:g.70515465C>T	ENSP00000260128:p.Thr367Met		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.T367M	ENST00000260128.4	37	c.1100	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.102176	0.94245	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	6.17	6.17	0.99709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97504	1.0062	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	367	Q8IWU6	SULF1_HUMAN	M	367	ENSP00000403040:T367M;ENSP00000260128:T367M;ENSP00000385704:T367M;ENSP00000390315:T367M	ENSP00000260128:T367M	T	+	2	0	SULF1	70678019	1.000000	0.71417	0.824000	0.32777	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ACG	SULF1	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000137573		0.542	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	-	0	58	0	C	NM_015170		70515465	1	tier1	-	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	8.45	65	6	SNP	1.000	T	T	70515465	C	T	70515465	3	4	160	1	0	0	0	0	1	0	0	0	15417	536	19	1	1126	1	SULF1	8	70515465	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1495003	70515465	75848557	182	40679											
INTS8	55656	genome.wustl.edu	37	chr8	95850822	95850822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatatagtcaagtccatatTtgtttgagatctggcaacta	12	14	7	8	0	2	1	1	1	1	1	3	2	3	1	2	1	1	2	2	1	6	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:95850822T>G	ENST00000523731.1	+	8	1126	c.993T>G	c.(991-993)atT>atG	p.I331M	INTS8_ENST00000447247.1_Missense_Mutation_p.I331M	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	331					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AAGTCCATATTTGTTTGAGAT	0.418																																																	0													171	153	159					8																	95850822		2203	4300	6503	SO:0001583	missense	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.993T>G	8.37:g.95850822T>G	ENSP00000430338:p.Ile331Met		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.I331M	ENST00000523731.1	37	c.993	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.81|12.81	2.049991|2.049991	0.36181|0.36181	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.42|5.42	1.86|1.86	0.25419|0.25419	.|.	.|0.327504	.|0.38381	.|N	.|0.001708	T|T	0.17831|0.17831	0.0428|0.0428	N|N	0.08118|0.08118	0|0	0.26856|0.26856	N|N	0.968056|0.968056	.|B;B	.|0.27791	.|0.114;0.189	.|B;B	.|0.31337	.|0.128;0.052	T|T	0.15009|0.15009	-1.0452|-1.0452	5|9	.|0.44086	.|T	.|0.13	-18.0105|-18.0105	7.1876|7.1876	0.25809|0.25809	0.0:0.3242:0.0:0.6758|0.0:0.3242:0.0:0.6758	.|.	.|331;331	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	C|M	153|331	.|.	.|ENSP00000343274:I331M	F|I	+|+	2|3	0|3	INTS8|INTS8	95919998|95919998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	1.304000|1.304000	0.33482|0.33482	0.888000|0.888000	0.36160|0.36160	0.402000|0.402000	0.26972|0.26972	TTT|ATT	INTS8	-	NULL	ENSG00000164941		0.418	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	-	0	41	0	T	NM_017864		95850822	1	tier1	-	no_errors	ENST00000523731	ensembl	human	known	74_37	missense	8.33	66	6	SNP	1.000	G	G	95850822	T	G	95850822	3	3	160	1	0	0	0	0	1	0	0	0	7811	1829	64	4	1023	4	INTS8	8	95850822	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	25335357	95850822	50513200	183	40680											
TSPYL5	85453	genome.wustl.edu	37	chr8	98289417	98289417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaaggtaggccctgtccGcctgggcgttcatgttctcc	4	10	13	14	3	2	0	1	0	1	0	4	1	3	0	5	3	0	3	5	3	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:98289417G>A	ENST00000322128.3	-	1	759	c.656C>T	c.(655-657)gCg>gTg	p.A219V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	219					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)					GGCCCTGTCCGCCTGGGCGTT	0.607																																																	0													75	75	75					8																	98289417		2203	4300	6503	SO:0001583	missense	0			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.656C>T	8.37:g.98289417G>A	ENSP00000322802:p.Ala219Val		B3KRF0|Q9C0B3	Missense_Mutation	SNP	pfam_NAP_family	p.A219V	ENST00000322128.3	37	c.656	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303631	0.81136	.	.	ENSG00000180543	ENST00000322128	T	0.25579	1.79	4.4	4.4	0.53042	.	0.000000	0.37577	N	0.002033	T	0.49184	0.1542	M	0.79123	2.44	0.44359	D	0.997259	D	0.64830	0.994	D	0.67382	0.951	T	0.51608	-0.8684	10	0.87932	D	0	-14.9609	12.7896	0.57526	0.0:0.0:1.0:0.0	.	219	Q86VY4	TSYL5_HUMAN	V	219	ENSP00000322802:A219V	ENSP00000322802:A219V	A	-	2	0	TSPYL5	98358593	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	3.916000	0.56416	2.739000	0.93911	0.563000	0.77884	GCG	TSPYL5	-	pfam_NAP_family	ENSG00000180543		0.607	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1		0	22	0	G	NM_033512		98289417	-1			no_errors	ENST00000322128	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.974	A	A	98289417	G	A	98289417	3	1	160	1	0	0	0	0	1	0	0	0	16710	1087	38	1	601	1	TSPYL5	8	98289417	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2438595	98289417	48074605	184	40681											
KCNV1	27012	genome.wustl.edu	37	chr8	110986334	110986334	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtactcgttgtccacggggTtggcatcgtcgcaaagctcc	7	10	12	12	4	0	0	0	0	0	0	5	0	2	0	2	3	2	6	2	3	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:110986334T>C	ENST00000524391.1	-	2	1316	c.284A>G	c.(283-285)aAc>aGc	p.N95S	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.N95S			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	95					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)			GTCCACGGGGTTGGCATCGTC	0.672																																																	0													39	33	35					8																	110986334		2203	4299	6502	SO:0001583	missense	0			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.284A>G	8.37:g.110986334T>C	ENSP00000435954:p.Asn95Ser		Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.N95S	ENST00000524391.1	37	c.284	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	T	6.877	0.531264	0.13127	.	.	ENSG00000164794	ENST00000524391;ENST00000297404	T;T	0.76316	-1.01;-1.01	4.85	4.85	0.62838	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.052243	0.85682	D	0.000000	T	0.60830	0.2299	N	0.16266	0.395	0.44798	D	0.997806	B	0.34372	0.451	B	0.33042	0.157	T	0.59537	-0.7436	10	0.11485	T	0.65	.	13.7692	0.63015	0.0:0.0:0.0:1.0	.	95	Q6PIU1	KCNV1_HUMAN	S	95	ENSP00000435954:N95S;ENSP00000297404:N95S	ENSP00000297404:N95S	N	-	2	0	KCNV1	111055510	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	7.849000	0.86908	2.020000	0.59435	0.533000	0.62120	AAC	KCNV1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv4	ENSG00000164794		0.672	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	-	0	142	0	T	NM_014379		110986334	-1	tier1	-	no_errors	ENST00000297404	ensembl	human	known	74_37	missense	17.32	104	22	SNP	1.000	C	C	110986334	T	C	110986334	3	2	160	1	0	0	0	0	1	0	0	0	8121	1725	60	4	1230	4	KCNV1	8	110986334	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	12696917	110986334	35377688	185	40682											
CSMD3	114788	genome.wustl.edu	37	chr8	113249500	113249500	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgaaactagtaactgttaAggtcatgggttgtttccttc	10	16	9	6	0	1	1	1	1	0	0	3	1	2	1	1	2	2	4	1	2	4	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:113249500A>C	ENST00000297405.5	-	67	10790	c.10546T>G	c.(10546-10548)Tta>Gta	p.L3516V	CSMD3_ENST00000455883.2_Missense_Mutation_p.L3347V|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3446V|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3476V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3516						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						GTAACTGTTAAGGTCATGGGT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													213	192	199					8																	113249500		2203	4300	6503	SO:0001583	missense	0			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.10546T>G	8.37:g.113249500A>C	ENSP00000297405:p.Leu3516Val		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.L3516V	ENST00000297405.5	37	c.10546	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815551	0.50527	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.36340	1.61;1.61;1.66;1.26;1.64	4.87	1.15	0.20763	.	0.000000	0.56097	D	0.000034	T	0.30823	0.0777	L	0.60455	1.87	0.32414	N	0.550231	P;P;B	0.47545	0.897;0.732;0.178	B;B;B	0.42916	0.402;0.154;0.108	T	0.40232	-0.9574	10	0.54805	T	0.06	.	5.208	0.15300	0.7213:0.0:0.1465:0.1322	.	3347;3516;3476	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3476;3516;2786;3347;3446	ENSP00000345799:L3476V;ENSP00000297405:L3516V;ENSP00000341558:L2786V;ENSP00000412263:L3347V;ENSP00000343124:L3446V	ENSP00000297405:L3516V	L	-	1	2	CSMD3	113318676	0.764000	0.28473	0.892000	0.35008	0.774000	0.43823	1.290000	0.33319	0.043000	0.15746	-0.691000	0.03719	TTA	CSMD3	-	NULL	ENSG00000164796		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	70	0	A	NM_052900		113249500	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	11.76	75	10	SNP	0.950	C	C	113249500	A	C	113249500	3	2	160	1	0	0	0	0	1	0	0	0	3955	69	3	4	597	4	CSMD3	8	113249500	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	2263166	113249500	33114522	186	40683											
ENPP2	5168	genome.wustl.edu	37	chr8	120608164	120608164	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctttggaggagcaactgGtctttcctgtctcctcttag	5	17	9	10	0	4	0	0	0	4	0	6	2	5	2	2	3	2	1	2	3	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:120608164G>T	ENST00000075322.6	-	12	1031				ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000259486.6_Missense_Mutation_p.P351T|ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000522167.1_5'Flank	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						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)			GGAGCAACTGGTCTTTCCTGT	0.428																																					Melanoma(20;305 879 2501 4818 31020)												0													126	122	124					8																	120608164		2203	4300	6503	SO:0001627	intron_variant	0			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.973-2064C>A	8.37:g.120608164G>T			A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P351T	ENST00000075322.6	37	c.1051	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212535	0.79240	.	.	ENSG00000136960	ENST00000259486	T	0.75154	-0.91	5.93	5.93	0.95920	.	0.180955	0.27240	N	0.020261	T	0.78317	0.4264	.	.	.	0.80722	D	1	P	0.44816	0.844	P	0.46076	0.503	T	0.79662	-0.1710	9	0.62326	D	0.03	-6.6434	18.5344	0.91004	0.0:0.0:1.0:0.0	.	351	Q13822-2	.	T	351	ENSP00000259486:P351T	ENSP00000259486:P351T	P	-	1	0	ENPP2	120677345	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.069000	0.71209	2.826000	0.97356	0.655000	0.94253	CCA	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000136960		0.428	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	-	0	94	0	G			120608164	-1	tier1	-	no_errors	ENST00000259486	ensembl	human	known	74_37	missense	16.67	95	19	SNP	1.000	T	T	120608164	G	T	120608164	1	4	160	0	1	0	0	0	0	0	0	0	5146	1261	44	3		3	ENPP2	8	120608164	Intron	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	7358664	120608164	25755858	187	40684											
TRIB1	10221	genome.wustl.edu	37	chr8	126445713	126445713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacatgcactcctatgtgcGaagccggaagaggctgcggg	9	6	16	10	3	0	1	0	0	0	1	1	4	1	3	2	4	4	2	2	4	3	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:126445713G>A	ENST00000520847.1	+	2	271	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	TRIB1_ENST00000519576.1_5'Flank|TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000311922.3_Missense_Mutation_p.R172Q					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TCCTATGTGCGAAGCCGGAAG	0.577																																																	0													110	112	111					8																	126445713		2203	4300	6503	SO:0001583	missense	0			AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"tribbles homolog 1 (Drosophila)"			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000520847.1:c.17G>A	8.37:g.126445713G>A	ENSP00000429063:p.Arg6Gln			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.R172Q	ENST00000520847.1	37	c.515		8	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864995	0.91511	.	.	ENSG00000173334	ENST00000311922;ENST00000520847	T;T	0.64618	-0.11;-0.11	4.91	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.28688	U	0.014469	T	0.73737	0.3625	L	0.43757	1.38	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.75950	-0.3137	10	0.62326	D	0.03	-6.1311	18.4698	0.90769	0.0:0.0:1.0:0.0	.	172	Q96RU8	TRIB1_HUMAN	Q	172;6	ENSP00000312150:R172Q;ENSP00000429063:R6Q	ENSP00000312150:R172Q	R	+	2	0	TRIB1	126514895	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	4.232000	0.58645	2.449000	0.82847	0.511000	0.50034	CGA	TRIB1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000173334		0.577	TRIB1-002	PUTATIVE	basic|exp_conf	protein_coding	TRIB1	HGNC	protein_coding	OTTHUMT00000381431.1	-	0	42	0	G	NM_025195		126445713	1	tier1	-	no_errors	ENST00000311922	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	126445713	G	A	126445713	3	1	160	1	0	0	0	0	1	0	0	0	16530	1058	37	1	521	1	TRIB1	8	126445713	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	5837549	126445713	19918309	188	40685											
BAI1	575	genome.wustl.edu	37	chr8	143563035	143563035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgacagagattttccGgagagcgtactacagcccca	13	7	10	11	2	0	3	0	1	0	2	1	6	1	3	3	1	5	1	3	1	3	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:143563035G>A	ENST00000517894.1	+	11	2987	c.2093G>A	c.(2092-2094)cGg>cAg	p.R698Q	BAI1_ENST00000323289.5_Missense_Mutation_p.R698Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	698					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)					GAGATTTTCCGGAGAGCGTAC	0.607																																																	0													46	54	51					8																	143563035		2029	4168	6197	SO:0001583	missense	0			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.2093G>A	8.37:g.143563035G>A	ENSP00000430945:p.Arg698Gln			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R698Q	ENST00000517894.1	37	c.2093		8	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008432	0.54361	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.06068	3.35;3.35	4.7	4.7	0.59300	.	0.076082	0.50627	U	0.000106	T	0.13756	0.0333	L	0.59436	1.845	0.48135	D	0.999598	D	0.59357	0.985	P	0.51079	0.658	T	0.07462	-1.0771	10	0.27785	T	0.31	.	16.6083	0.84837	0.0:0.0:1.0:0.0	.	698	E9PBK0	.	Q	698	ENSP00000430945:R698Q;ENSP00000313046:R698Q	ENSP00000313046:R698Q	R	+	2	0	BAI1	143560037	1.000000	0.71417	0.969000	0.41365	0.122000	0.20287	4.895000	0.63214	2.153000	0.67306	0.313000	0.20887	CGG	BAI1	-	pfam_DUF3497,prints_GPCR_2_brain-spec_angio_inhib	ENSG00000181790		0.607	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	-	0	73	0	G	NM_001702		143563035	1	tier1	-	no_errors	ENST00000323289	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.998	A	A	143563035	G	A	143563035	3	1	160	1	0	0	0	0	1	0	0	0	1299	1116	39	1	2131	1	BAI1	8	143563035	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	17117322	143563035	2800987	189	40686											
EEF1D	1936	genome.wustl.edu	37	chr8	144662317	144662317	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccccccagaccagcccGtccagctggatagagcgcac	10	3	11	17	2	0	2	0	0	0	2	1	4	1	3	6	1	4	2	6	1	2	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:144662317G>A	ENST00000529272.1	-	7	1072	c.672C>T	c.(670-672)gaC>gaT	p.D224D	NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000528610.1_Silent_p.D200D|EEF1D_ENST00000532400.1_Missense_Mutation_p.T40M|EEF1D_ENST00000531621.1_Silent_p.D181D|NAPRT1_ENST00000426292.3_5'Flank|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000317198.6_Silent_p.D224D|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000423316.2_Silent_p.D590D|EEF1D_ENST00000526838.1_Silent_p.D205D|EEF1D_ENST00000524624.1_Silent_p.D200D|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000532741.1_Silent_p.D640D|EEF1D_ENST00000419152.2_Silent_p.D224D|RP11-661A12.9_ENST00000531730.1_RNA|EEF1D_ENST00000395119.3_Silent_p.D224D|EEF1D_ENST00000442189.2_Silent_p.D590D			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	224	Catalytic (GEF).				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)			AGACCAGCCCGTCCAGCTGGA	0.622																																																	0													34	39	37					8																	144662317		2203	4299	6502	SO:0001819	synonymous_variant	0			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.672C>T	8.37:g.144662317G>A			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	NULL	p.T40M	ENST00000529272.1	37	c.119	CCDS6405.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.43|16.43	3.119815|3.119815	0.56613|0.56613	.|.	.|.	ENSG00000104529|ENSG00000104529	ENST00000530109|ENST00000532400	.|.	.|.	.|.	4.84|4.84	-5.21|-5.21	0.02815|0.02815	.|.	.|.	.|.	.|.	.|.	T|T	0.69242|0.69242	0.3089|0.3089	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73767|0.73767	-0.3879|-0.3879	4|5	.|0.59425	.|D	.|0.04	.|.	14.9618|14.9618	0.71161|0.71161	0.5901:0.0:0.4099:0.0|0.5901:0.0:0.4099:0.0	.|.	.|.	.|.	.|.	W|M	99|40	.|.	.|ENSP00000433784:T40M	R|T	-|-	1|2	2|0	EEF1D|EEF1D	144733460|144733460	0.988000|0.988000	0.35896|0.35896	0.863000|0.863000	0.33907|0.33907	0.974000|0.974000	0.67602|0.67602	0.149000|0.149000	0.16243|0.16243	-1.191000|-1.191000	0.02695|0.02695	-0.237000|-0.237000	0.12165|0.12165	CGG|ACG	EEF1D	-	NULL	ENSG00000104529		0.622	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EEF1D	HGNC	protein_coding	OTTHUMT00000382592.2	-	0	71	0	G	NM_032378		144662317	-1	tier1	-	no_errors	ENST00000532400	ensembl	human	novel	74_37	missense	19.30	46	11	SNP	0.984	A	A	144662317	G	A	144662317	2	1	160	1	0	0	0	0	0	0	0	1	4940	1136	40	1		1	EEF1D	8	144662317	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1099282	144662317	1701705	190	40687											
EXOSC4	54512	genome.wustl.edu	37	chr8	145135027	145135027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcacacagctgcacccacGctcccagattgatatctatg	10	9	6	16	1	2	2	1	1	1	1	3	2	3	2	3	0	2	3	3	0	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:145135027G>A	ENST00000316052.5	+	2	456	c.353G>A	c.(352-354)cGc>cAc	p.R118H	GPAA1_ENST00000355091.4_5'Flank|EXOSC4_ENST00000525936.1_Intron|GPAA1_ENST00000361036.6_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	118					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)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|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)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCACCCACGCTCCCAGATT	0.597																																																	0													50	40	43					8																	145135027		2203	4300	6503	SO:0001583	missense	0			AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"exosome component Rrp41"	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.353G>A	8.37:g.145135027G>A	ENSP00000315476:p.Arg118His			Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.R118H	ENST00000316052.5	37	c.353	CCDS6414.1	8	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278443	0.80692	.	.	ENSG00000178896	ENST00000316052;ENST00000527954	T;T	0.64991	-0.13;-0.13	5.05	5.05	0.67936	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	L	0.61036	1.89	0.80722	D	1	P	0.49358	0.923	B	0.40066	0.318	T	0.67669	-0.5611	10	0.56958	D	0.05	-15.4044	15.8797	0.79195	0.0:0.0:1.0:0.0	.	118	Q9NPD3	EXOS4_HUMAN	H	118;141	ENSP00000315476:R118H;ENSP00000436539:R141H	ENSP00000315476:R118H	R	+	2	0	EXOSC4	145207015	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	9.312000	0.96287	2.345000	0.79718	0.561000	0.74099	CGC	EXOSC4	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000178896		0.597	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC4	HGNC	protein_coding	OTTHUMT00000384065.1	-	0	38	0	G	NM_019037		145135027	1	tier1	-	no_errors	ENST00000316052	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	A	A	145135027	G	A	145135027	3	1	160	1	0	0	0	0	1	0	0	0	5333	1087	38	1	359	1	EXOSC4	8	145135027	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	472710	145135027	1228995	191	40688											
FREM1	158326	genome.wustl.edu	37	chr9	14756394	14756394	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtcaaactgaatcagtttAgatggaatcacggtgaaatc	14	10	11	6	1	3	3	3	2	0	1	4	4	3	4	0	3	1	1	0	3	5	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:14756394A>C	ENST00000380880.3	-	29	6168	c.5385T>G	c.(5383-5385)tcT>tcG	p.S1795S	FREM1_ENST00000380894.1_Silent_p.S331S|FREM1_ENST00000380881.4_Silent_p.S1796S|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Silent_p.S1795S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1795	Calx-beta.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAATCAGTTTAGATGGAATCA	0.333																																																	0													58	58	58					9																	14756394		1830	4088	5918	SO:0001819	synonymous_variant	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5385T>G	9.37:g.14756394A>C			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.S1796	ENST00000380880.3	37	c.5388	CCDS47952.1	9																																																																																			FREM1	-	pfam_Calx_beta	ENSG00000164946		0.333	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	-	0	105	0	A	NM_144966		14756394	-1	tier1	-	no_errors	ENST00000380881	ensembl	human	known	74_37	silent	20.87	91	24	SNP	0.995	C	C	14756394	A	C	14756394	2	2	160	1	0	0	0	0	0	0	0	1	6068	407	15	4		4	FREM1	9	14756394	Silent	SNP	A	TCGA-V5-AASX-01A-11D-A387-09		14756394	126457037	192	40689											
IFNE	338376	genome.wustl.edu	37	chr9	21481217	21481217	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gcccaggcacaggtgctgtaGtcctggttttccaggtaatc	7	11	12	11	0	0	0	0	0	0	0	3	0	2	0	3	4	1	5	3	4	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:21481217G>T	ENST00000448696.3	-	1	1095	c.477C>A	c.(475-477)gaC>gaA	p.D159E	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	159					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|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)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						AGGTGCTGTAGTCCTGGTTTT	0.438																																																	0													163	157	159					9																	21481217		2203	4300	6503	SO:0001583	missense	0			AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.477C>A	9.37:g.21481217G>T	ENSP00000418018:p.Asp159Glu			Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.D159E	ENST00000448696.3	37	c.477	CCDS34997.1	9	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.978533	0.00448	.	.	ENSG00000184995	ENST00000448696	T	0.15256	2.44	4.93	-7.15	0.01521	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.065370	0.07300	N	0.873878	T	0.04634	0.0126	N	0.01122	-1.005	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46775	-0.9167	10	0.27785	T	0.31	.	9.8586	0.41101	0.0:0.3706:0.4636:0.1658	.	159	Q86WN2	IFNE_HUMAN	E	159	ENSP00000418018:D159E	ENSP00000418018:D159E	D	-	3	2	IFNE	21471217	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.431000	0.02432	-1.591000	0.01621	-0.262000	0.10625	GAC	IFNE	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	ENSG00000184995		0.438	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNE	HGNC	protein_coding	OTTHUMT00000051901.2	-	0	46	0	G	NM_176891		21481217	-1	tier1	-	no_errors	ENST00000448696	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.000	T	T	21481217	G	T	21481217	3	4	160	1	0	0	0	0	1	0	0	0	7574	1020	36	3	153	3	IFNE	9	21481217	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	6724823	21481217	119732214	193	40690											
CA9	768	genome.wustl.edu	37	chr9	35676359	35676359	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttggggcgcccgggaggCctggccgtgttggccgcctt	1	8	18	14	4	0	0	0	0	0	0	0	1	0	1	6	6	0	1	6	6	0	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:35676359C>A	ENST00000378357.4	+	5	917	c.813C>A	c.(811-813)ggC>ggA	p.G271G	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	271	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GCCCGGGAGGCCTGGCCGTGT	0.637																																																	0													110	116	114					9																	35676359		2203	4300	6503	SO:0001819	synonymous_variant	0			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.813C>A	9.37:g.35676359C>A			Q5T4R1	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.G271	ENST00000378357.4	37	c.813	CCDS6585.1	9																																																																																			CA9	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000107159		0.637	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA9	HGNC	protein_coding	OTTHUMT00000055479.1		0	75	0	C	NM_001216		35676359	1			no_errors	ENST00000378357	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.992	A	A	35676359	C	A	35676359	2	1	160	1	0	0	0	0	0	0	0	1	2531	726	26	3		3	CA9	9	35676359	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	14195142	35676359	105537072	194	40691											
FAM75A6	389730	genome.wustl.edu	37	chr9	43625043	43625043	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggcaaagtgacattttcTtgtccagcatttgtccaact	10	14	7	10	0	1	1	0	1	1	0	3	1	3	1	2	1	2	2	2	1	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:43625043T>A	ENST00000332857.6	-	4	3672	c.3644A>T	c.(3643-3645)aAg>aTg	p.K1215M	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1215					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGACATTTTCTTGTCCAGCAT	0.488																																																	0													30	29	30					9																	43625043		612	1531	2143	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3644A>T	9.37:g.43625043T>A	ENSP00000329825:p.Lys1215Met			Missense_Mutation	SNP	NULL	p.K1215M	ENST00000332857.6	37	c.3644	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	T	11.60	1.687478	0.29962	.	.	ENSG00000185775	ENST00000332857	T	0.04119	3.7	2.44	2.44	0.29823	.	0.774566	0.10959	N	0.615196	T	0.10337	0.0253	L	0.43152	1.355	0.09310	N	1	P	0.34724	0.465	P	0.50440	0.641	T	0.34304	-0.9834	10	0.62326	D	0.03	-0.7087	6.9206	0.24385	0.0:0.0:0.0:1.0	.	1215	Q5VVP1	F75A6_HUMAN	M	1215	ENSP00000329825:K1215M	ENSP00000329825:K1215M	K	-	2	0	FAM75A6	43565039	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.620000	0.24403	1.391000	0.46566	0.315000	0.21342	AAG	SPATA31A6	-	NULL	ENSG00000185775		0.488	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	-	0	124	0	T	NM_001145196		43625043	-1	tier1	-	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	21.57	120	33	SNP	0.003	A	A	43625043	T	A	43625043	3	1	160	1	0	0	0	0	1	0	0	0	5644	1609	56	5	391	5	FAM75A6	9	43625043	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	7948684	43625043	97588388	195	40692											
TJP2	9414	genome.wustl.edu	37	chr9	71836013	71836013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtccccatgagcgggccCggagccgggagcgggacctc	5	3	18	15	5	0	1	0	1	0	0	2	4	1	4	5	5	3	0	5	5	0	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:71836013C>T	ENST00000377245.4	+	5	761	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	TJP2_ENST00000453658.2_Missense_Mutation_p.R162W|TJP2_ENST00000265384.7_Missense_Mutation_p.R185W|TJP2_ENST00000535702.1_Missense_Mutation_p.R189W|TJP2_ENST00000348208.4_Missense_Mutation_p.R185W|TJP2_ENST00000539225.1_Missense_Mutation_p.R216W	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	185					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						TGAGCGGGCCCGGAGCCGGGA	0.751																																																	0													6	8	7					9																	71836013		2091	4070	6161	SO:0001583	missense	0			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.553C>T	9.37:g.71836013C>T	ENSP00000366453:p.Arg185Trp		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens	p.R216W	ENST00000377245.4	37	c.646	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	8.411	0.844185	0.16963	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	5.71	4.82	0.62117	.	0.397289	0.27951	N	0.017199	T	0.42268	0.1195	M	0.64997	1.995	0.09310	N	1	B;B;B;B;B	0.17465	0.002;0.009;0.015;0.004;0.022	B;B;B;B;B	0.13407	0.001;0.003;0.001;0.003;0.009	T	0.30966	-0.9960	9	.	.	.	.	8.4142	0.32662	0.2641:0.665:0.0:0.0709	.	216;189;185;185;185	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	W	162;185;185;185;189;216	ENSP00000392178:R162W;ENSP00000366453:R185W;ENSP00000345893:R185W;ENSP00000265384:R185W;ENSP00000442090:R189W;ENSP00000438262:R216W	.	R	+	1	2	TJP2	71025833	0.033000	0.19621	0.028000	0.17463	0.292000	0.27327	0.958000	0.29227	1.421000	0.47157	0.591000	0.81541	CGG	TJP2	-	NULL	ENSG00000119139		0.751	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2		0	24	0	C	NM_201629		71836013	1			no_errors	ENST00000539225	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.001	T	T	71836013	C	T	71836013	3	4	160	1	0	0	0	0	1	0	0	0	15977	643	23	1	728	1	TJP2	9	71836013	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	28210970	71836013	69377418	196	40693											
TRPM3	80036	genome.wustl.edu	37	chr9	73461495	73461495	+	Missense_Mutation	SNP	A	A	T	1	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	atcaggttttgtatcaaaagAtactcgcacatactggaaga	15	11	8	7	1	2	2	2	0	0	2	3	3	2	3	0	2	2	3	0	2	6	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:73461495A>T	ENST00000377111.2	-	4	718	c.475T>A	c.(475-477)Tct>Act	p.S159T	TRPM3_ENST00000377097.3_Missense_Mutation_p.S6T|TRPM3_ENST00000377101.1_Missense_Mutation_p.S6T|TRPM3_ENST00000396292.4_Missense_Mutation_p.S6T|TRPM3_ENST00000408909.2_Missense_Mutation_p.S6T|TRPM3_ENST00000377106.1_Missense_Mutation_p.S6T|TRPM3_ENST00000357533.2_Missense_Mutation_p.S161T|TRPM3_ENST00000396280.5_Missense_Mutation_p.S6T|TRPM3_ENST00000377110.3_Missense_Mutation_p.S159T|TRPM3_ENST00000361823.5_Missense_Mutation_p.S6T|TRPM3_ENST00000396285.1_Missense_Mutation_p.S6T|TRPM3_ENST00000423814.3_Missense_Mutation_p.S161T|TRPM3_ENST00000396283.1_Missense_Mutation_p.S6T|TRPM3_ENST00000360823.2_Missense_Mutation_p.S6T|TRPM3_ENST00000358082.3_Missense_Mutation_p.S6T|TRPM3_ENST00000377105.1_Missense_Mutation_p.S6T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	159					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						GTATCAAAAGATACTCGCACA	0.453																																																	0													75	70	72					9																	73461495		2203	4300	6503	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.475T>A	9.37:g.73461495A>T	ENSP00000366315:p.Ser159Thr		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.S161T	ENST00000377111.2	37	c.481		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	20.2|20.2|20.2	3.941798|3.941798|3.941798	0.73557|0.73557|0.73557	.|.|.	.|.|.	ENSG00000083067|ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451|ENST00000377097	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.04654|.	.|3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58|.	6.01|6.01|6.01	6.01|6.01|6.01	0.97437|0.97437|0.97437	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.78941|0.78941|.	0.4363|0.4363|.	M|M|M	0.83692|0.83692|0.83692	2.655|2.655|2.655	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|P;D;P;P;P;D;D;P;D|.	.|0.56035|.	.|0.765;0.969;0.69;0.675;0.651;0.974;0.968;0.834;0.974|.	.|B;P;B;P;B;D;P;P;D|.	.|0.70487|.	.|0.342;0.842;0.328;0.511;0.358;0.969;0.759;0.469;0.969|.	T|T|.	0.80422|0.80422|.	-0.1389|-0.1389|.	5|10|.	.|0.87932|.	.|D|.	.|0|.	-3.2715|-3.2715|-3.2715	16.5285|16.5285|16.5285	0.84344|0.84344|0.84344	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|159;161;6;159;159;159;161;6;6|.	.|Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1|.	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.|.	N|T|X	5|159;159;6;6;6;161;6;6;6;6;161;6;6;6;6|48	.|ENSP00000366315:S159T;ENSP00000366314:S159T;ENSP00000366310:S6T;ENSP00000354066:S6T;ENSP00000366309:S6T;ENSP00000350140:S161T;ENSP00000386127:S6T;ENSP00000379581:S6T;ENSP00000379587:S6T;ENSP00000350791:S6T;ENSP00000389542:S161T;ENSP00000366305:S6T;ENSP00000379579:S6T;ENSP00000355395:S6T|.	.|ENSP00000350140:S161T|.	I|S|Y	-|-|-	2|1|3	0|0|2	TRPM3|TRPM3|TRPM3	72651315|72651315|72651315	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.982000|0.982000|0.982000	0.71751|0.71751|0.71751	9.243000|9.243000|9.243000	0.95416|0.95416|0.95416	2.307000|2.307000|2.307000	0.77673|0.77673|0.77673	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	ATC|TCT|TAT	TRPM3	-	NULL	ENSG00000083067		0.453	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0	52	0	A	NM_206945		73461495	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	13.11	53	8	SNP	1.000	T	T	73461495	A	T	73461495	3	4	160	1	0	0	0	0	1	0	0	0	16635	333	12	5	4859	5	TRPM3	9	73461495	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	1625482	73461495	67751936	197	40694											
VPS13A	23230	genome.wustl.edu	37	chr9	79954671	79954671	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacttacaatactggtcaGacagttgtggcatttcatag	12	13	9	7	0	2	2	2	1	0	1	2	2	2	2	0	2	2	2	0	2	4	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:79954671G>A	ENST00000360280.3	+	48	6878	c.6618G>A	c.(6616-6618)caG>caA	p.Q2206Q	VPS13A_ENST00000376634.4_Silent_p.Q2206Q|VPS13A_ENST00000376636.3_Silent_p.Q2167Q|VPS13A_ENST00000357409.5_Silent_p.Q2206Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2206					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						ATACTGGTCAGACAGTTGTGG	0.373																																																	0													147	140	143					9																	79954671		2203	4299	6502	SO:0001819	synonymous_variant	0			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.6618G>A	9.37:g.79954671G>A			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.Q2206	ENST00000360280.3	37	c.6618	CCDS6655.1	9																																																																																			VPS13A	-	NULL	ENSG00000197969		0.373	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	-	0	35	0	G	NM_015186		79954671	1	tier1	-	no_errors	ENST00000360280	ensembl	human	known	74_37	silent	11.36	39	5	SNP	0.249	A	A	79954671	G	A	79954671	2	1	160	1	0	0	0	0	0	0	0	1	17238	933	33	3		3	VPS13A	9	79954671	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	6493176	79954671	61258760	198	40695											
ZNF484	83744	genome.wustl.edu	37	chr9	95609810	95609810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgtgacttccggataaagGccttcccacattcagtacat	12	11	7	11	1	1	1	1	1	0	0	3	2	3	2	3	2	1	1	3	2	4	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:95609810G>A	ENST00000375495.3	-	5	1407	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	ZNF484_ENST00000332591.6_Missense_Mutation_p.A384V|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.A422V|ZNF484_ENST00000395505.2_Missense_Mutation_p.A384V	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CCGGATAAAGGCCTTCCCACA	0.358																																																	0													75	79	78					9																	95609810		2203	4300	6503	SO:0001583	missense	0			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1259C>T	9.37:g.95609810G>A	ENSP00000364645:p.Ala420Val		B1AL89|B4DRI2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A422V	ENST00000375495.3	37	c.1265	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	15.19	2.759328	0.49468	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31040	0.0784	L	0.37466	1.105	0.22620	N	0.99892	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.05699	-1.0869	9	0.40728	T	0.16	.	7.1793	0.25763	0.0:0.2804:0.7195:0.0	.	422;420	B4DRI2;Q5JVG2	.;ZN484_HUMAN	V	384;422;420;384	ENSP00000378881:A384V;ENSP00000378882:A422V;ENSP00000364645:A420V;ENSP00000364646:A384V	ENSP00000364646:A384V	A	-	2	0	ZNF484	94649631	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.132000	0.10467	1.653000	0.50694	0.545000	0.68477	GCC	ZNF484	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127081		0.358	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	-	0	55	0	G	XM_046861		95609810	-1	tier1	-	no_errors	ENST00000395506	ensembl	human	known	74_37	missense	9.46	66	7	SNP	1.000	A	A	95609810	G	A	95609810	3	1	160	1	0	0	0	0	1	0	0	0	17985	1203	42	3	1303	3	ZNF484	9	95609810	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	15655139	95609810	45603621	199	40696											
IKBKAP	8518	genome.wustl.edu	37	chr9	111681124	111681124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcccagtcctgccacaGgctcactggttgactgcaaa	8	9	10	14	0	1	1	1	1	0	0	3	1	3	1	3	3	2	3	3	3	1	1	rs374008013		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:111681124G>A	ENST00000374647.5	-	8	1014	c.707C>T	c.(706-708)cCt>cTt	p.P236L	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	236					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|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)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTGCCACAGGCTCACTGGT	0.512																																																	0													101	104	103					9																	111681124		2203	4300	6503	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.707C>T	9.37:g.111681124G>A	ENSP00000363779:p.Pro236Leu		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.P236L	ENST00000374647.5	37	c.707	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420733	0.62622	.	.	ENSG00000070061	ENST00000374647	T	0.28069	1.63	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.331055	0.36740	N	0.002432	T	0.42743	0.1216	M	0.76328	2.33	0.80722	D	1	P	0.41475	0.751	B	0.44315	0.446	T	0.23547	-1.0185	10	0.33940	T	0.23	-4.1991	17.2636	0.87078	0.0:0.0:1.0:0.0	.	236	O95163	ELP1_HUMAN	L	236	ENSP00000363779:P236L	ENSP00000363779:P236L	P	-	2	0	IKBKAP	110720945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.026000	0.64103	2.659000	0.90383	0.655000	0.94253	CCT	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.512	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	-	0	55	0	G			111681124	-1	tier1	-	no_errors	ENST00000374647	ensembl	human	known	74_37	missense	9.23	59	6	SNP	1.000	A	A	111681124	G	A	111681124	3	1	160	1	0	0	0	0	1	0	0	0	7637	1000	35	3	3411	3	IKBKAP	9	111681124	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	16071314	111681124	29532307	200	40697											
EPB41L4B	54566	genome.wustl.edu	37	chr9	111970305	111970305	+	Missense_Mutation	SNP	T	T	C	0	1	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	aagtggagtctgaagagtttTctccgagactttcttttctt	8	17	9	7	1	4	3	0	1	4	2	5	5	4	4	1	1	0	1	1	1	2	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:111970305T>C	ENST00000374566.3	-	18	2294	c.1777A>G	c.(1777-1779)Aaa>Gaa	p.K593E		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	593					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						TGAAGAGTTTTCTCCGAGACT	0.413																																																	0													99	92	94					9																	111970305		1832	4100	5932	SO:0001583	missense	0			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.1777A>G	9.37:g.111970305T>C	ENSP00000363694:p.Lys593Glu		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.K593E	ENST00000374566.3	37	c.1777	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621591	0.87460	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.89123	-2.47	5.49	5.49	0.81192	.	0.000000	0.41938	D	0.000783	D	0.91005	0.7171	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	P	0.58266	0.836	D	0.91700	0.5373	10	0.66056	D	0.02	.	13.5761	0.61875	0.0:0.0:0.0:1.0	.	593	Q9H329	E41LB_HUMAN	E	278;593	ENSP00000363694:K593E	ENSP00000262536:K278E	K	-	1	0	EPB41L4B	111010126	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.115000	0.64655	2.090000	0.63153	0.459000	0.35465	AAA	EPB41L4B	-	NULL	ENSG00000095203		0.413	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	-	0	53	0	T	NM_018424		111970305	-1	tier1	-	no_errors	ENST00000374566	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	C	C	111970305	T	C	111970305	3	2	160	1	0	0	0	0	1	0	0	0	5172	1792	62	4	961	4	EPB41L4B	9	111970305	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	289181	111970305	29243126	201	40698											
AKAP2	11217	genome.wustl.edu	37	chr9	112899486	112899486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcacagagcagatagatttCtctgctgctcgcaaacaatt	12	11	8	10	1	2	3	1	0	1	3	4	3	2	3	0	0	4	4	0	0	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:112899486C>G	ENST00000259318.7	+	2	1176	c.969C>G	c.(967-969)ttC>ttG	p.F323L	AKAP2_ENST00000374525.1_Missense_Mutation_p.F412L|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.F554L|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.F554L|AKAP2_ENST00000555236.1_Missense_Mutation_p.F554L|AKAP2_ENST00000434623.2_Missense_Mutation_p.F412L|AKAP2_ENST00000510514.5_Missense_Mutation_p.F554L	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	323										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGATAGATTTCTCTGCTGCTC	0.527																																																	0													26	24	25					9																	112899486		2203	4295	6498	SO:0001583	missense	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.969C>G	9.37:g.112899486C>G	ENSP00000259318:p.Phe323Leu		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.F554L	ENST00000259318.7	37	c.1662	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412179	0.42817	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	6.07	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	M	0.70275	2.135	0.47819	D	0.999525	P;P;D;P;P;P;P;P	0.53151	0.66;0.778;0.958;0.778;0.671;0.885;0.885;0.69	B;B;B;B;B;P;P;B	0.46110	0.316;0.262;0.38;0.262;0.134;0.504;0.504;0.307	T	0.64901	-0.6298	10	0.42905	T	0.14	-27.8594	11.1037	0.48190	0.0:0.8594:0.0:0.1406	.	323;412;406;412;413;554;554;372	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	L	554;554;554;554;412;412;372;323	ENSP00000363654:F554L;ENSP00000305861:F554L;ENSP00000451476:F554L;ENSP00000421522:F554L;ENSP00000404782:F412L;ENSP00000363649:F412L;ENSP00000419268:F372L;ENSP00000259318:F323L	ENSP00000259318:F323L	F	+	3	2	PALM2-AKAP2;AKAP2	111939307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.841000	0.27613	2.884000	0.98904	0.655000	0.94253	TTC	PALM2-AKAP2	-	NULL	ENSG00000157654		0.527	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3		0	57	0	C	NM_001004065		112899486	1			no_errors	ENST00000374530	ensembl	human	known	74_37	missense	7.41	49	4	SNP	1.000	G	G	112899486	C	G	112899486	3	3	160	1	0	0	0	0	1	0	0	0	451	912	32	5	1242	5	AKAP2	9	112899486	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	929181	112899486	28313945	202	40699											
ZNF483	158399	genome.wustl.edu	37	chr9	114304808	114304808	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaagactgtgggagaccCtttagtgacagttcatctct	10	13	10	8	0	2	3	1	1	1	2	3	4	2	3	1	1	0	2	1	1	3	4	rs34985726		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:114304808C>A	ENST00000309235.5	+	6	1751	c.1593C>A	c.(1591-1593)ccC>ccA	p.P531P	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTGGGAGACCCTTTAGTGACA	0.383																																																	0													55	60	58					9																	114304808		2202	4300	6502	SO:0001819	synonymous_variant	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1593C>A	9.37:g.114304808C>A			Q5VZN2|Q8NAE1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P531	ENST00000309235.5	37	c.1593	CCDS35106.1	9																																																																																			ZNF483	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173258		0.383	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	-	0	34	0	C	XM_088567		114304808	1	tier1	-	no_errors	ENST00000309235	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.627	A	A	114304808	C	A	114304808	2	1	160	1	0	0	0	0	0	0	0	1	17984	668	24	3		3	ZNF483	9	114304808	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1405322	114304808	26908623	203	40700											
SLC46A2	57864	genome.wustl.edu	37	chr9	115652626	115652626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagcaggaagcccagcagCgacatgcagatggagatctt	13	5	14	9	1	1	3	0	0	1	3	1	7	1	4	1	2	5	3	1	2	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:115652626C>T	ENST00000374228.4	-	1	567	c.336G>A	c.(334-336)tcG>tcA	p.S112S		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	112					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						AGCCCAGCAGCGACATGCAGA	0.647																																																	0													67	70	69					9																	115652626		2203	4299	6502	SO:0001819	synonymous_variant	0			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.336G>A	9.37:g.115652626C>T			B1ALK1|Q86VT0|Q96NE2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG	p.S112	ENST00000374228.4	37	c.336	CCDS6786.1	9																																																																																			SLC46A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000119457		0.647	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	HGNC	protein_coding	OTTHUMT00000053702.1		0	27	0	C	NM_033051		115652626	-1			no_errors	ENST00000374228	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.763	T	T	115652626	C	T	115652626	2	4	160	1	0	0	0	0	0	0	0	1	14690	755	27	1		1	SLC46A2	9	115652626	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1347818	115652626	25560805	204	40701											
PRPF4	9128	genome.wustl.edu	37	chr9	116038922	116038922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagaaggagagggagcGtctggccaaaggagagtctg	13	4	19	5	1	2	3	0	0	2	3	2	8	2	5	1	5	1	0	1	5	3	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:116038922G>T	ENST00000374198.4	+	2	227	c.125G>T	c.(124-126)cGt>cTt	p.R42L	PRPF4_ENST00000374199.4_Missense_Mutation_p.R41L|CDC26_ENST00000490408.1_5'Flank|CDC26_ENST00000374206.3_5'Flank	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	42					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GAGAGGGAGCGTCTGGCCAAA	0.458																																																	0													138	148	144					9																	116038922		2203	4300	6503	SO:0001583	missense	0			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.125G>T	9.37:g.116038922G>T	ENSP00000363313:p.Arg42Leu		O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R42L	ENST00000374198.4	37	c.125	CCDS6791.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.653797	0.96724	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.63913	-0.07;-0.02	5.97	5.97	0.96955	.	0.054263	0.85682	D	0.000000	T	0.69691	0.3139	L	0.60455	1.87	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.50570	0.644;0.644	T	0.71988	-0.4426	10	0.72032	D	0.01	.	18.9978	0.92819	0.0:0.0:1.0:0.0	.	57;42	Q59EL4;O43172	.;PRP4_HUMAN	L	41;42	ENSP00000363315:R41L;ENSP00000363313:R42L	ENSP00000363313:R42L	R	+	2	0	PRPF4	115078743	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	8.814000	0.91968	2.838000	0.97847	0.561000	0.74099	CGT	PRPF4	-	NULL	ENSG00000136875		0.458	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRPF4	HGNC	protein_coding	OTTHUMT00000053708.2	-	0	65	0	G	NM_004697		116038922	1	tier1	-	no_errors	ENST00000374198	ensembl	human	known	74_37	missense	23.08	69	21	SNP	1.000	T	T	116038922	G	T	116038922	3	4	160	1	0	0	0	0	1	0	0	0	12612	1145	40	2	131	2	PRPF4	9	116038922	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	386296	116038922	25174509	205	40702											
OR1L4	254973	genome.wustl.edu	37	chr9	125486311	125486311	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacctcaggcttcatcCtcctgggcctctcttccaac	6	10	7	18	0	3	0	2	0	1	0	7	0	6	0	5	2	2	3	5	2	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:125486311C>G	ENST00000259466.1	+	1	43	c.43C>G	c.(43-45)Ctc>Gtc	p.L15V		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGGCTTCATCCTCCTGGGCCT	0.493																																																	0													199	189	192					9																	125486311		2203	4300	6503	SO:0001583	missense	0				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.43C>G	9.37:g.125486311C>G	ENSP00000259466:p.Leu15Val		Q6IFN0|Q96R81	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L15V	ENST00000259466.1	37	c.43	CCDS35129.1	9	.	.	.	.	.	.	.	.	.	.	c	9.325	1.059044	0.19987	.	.	ENSG00000136939	ENST00000259466	T	0.01185	5.21	3.94	3.03	0.35002	.	0.000000	0.40640	N	0.001056	T	0.02848	0.0085	H	0.94503	3.545	0.33560	D	0.597281	P	0.37015	0.578	B	0.35182	0.197	T	0.04029	-1.0983	10	0.87932	D	0	-14.9583	3.0401	0.06135	0.2152:0.5509:0.0:0.2339	.	15	Q8NGR5	OR1L4_HUMAN	V	15	ENSP00000259466:L15V	ENSP00000259466:L15V	L	+	1	0	OR1L4	124526132	0.434000	0.25570	1.000000	0.80357	0.561000	0.35649	0.245000	0.18142	0.830000	0.34757	0.305000	0.20034	CTC	OR1L4	-	NULL	ENSG00000136939		0.493	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L4	HGNC	protein_coding	OTTHUMT00000053951.1	-	0	105	0	C			125486311	1	tier1	-	no_errors	ENST00000259466	ensembl	human	known	74_37	missense	9.92	118	13	SNP	0.998	G	G	125486311	C	G	125486311	3	3	160	1	0	0	0	0	1	0	0	0	11004	681	24	5	45	5	OR1L4	9	125486311	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	9447389	125486311	15727120	206	40703											
RC3H2	54542	genome.wustl.edu	37	chr9	125652614	125652614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctaaaaactggcatcctCgagccctgacagcggcccat	10	6	9	16	2	0	1	0	1	0	0	2	2	1	1	4	2	3	1	4	2	3	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:125652614C>A	ENST00000373670.1	-	3	1160	c.560G>T	c.(559-561)cGa>cTa	p.R187L	RC3H2_ENST00000423239.2_Missense_Mutation_p.R187L|RC3H2_ENST00000335387.5_Missense_Mutation_p.R187L|RC3H2_ENST00000373665.2_Missense_Mutation_p.R187L|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000357244.2_Missense_Mutation_p.R187L|RC3H2_ENST00000471874.2_Missense_Mutation_p.R187L			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	187	ROQ.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGGCATCCTCGAGCCCTGAC	0.478																																																	0													57	57	57					9																	125652614		1902	4122	6024	SO:0001583	missense	0			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.560G>T	9.37:g.125652614C>A	ENSP00000362774:p.Arg187Leu		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R187L	ENST00000373670.1	37	c.560	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.185322	0.94885	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	L	0.60845	1.875	0.80722	D	1	D;D;D;D	0.89917	1.0;0.987;1.0;0.992	D;D;D;D	0.97110	0.999;0.931;1.0;0.969	D	0.96551	0.9408	10	0.40728	T	0.16	-28.7697	18.241	0.89967	0.0:1.0:0.0:0.0	.	187;187;187;187	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	L	187;187;58;187;187;187	ENSP00000362774:R187L;ENSP00000349783:R187L;ENSP00000411767:R187L;ENSP00000362769:R187L;ENSP00000335150:R187L	ENSP00000335150:R187L	R	-	2	0	RC3H2	124692435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.559000	0.86315	0.491000	0.48974	CGA	RC3H2	-	NULL	ENSG00000056586		0.478	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	-	0	73	0	C	NM_018835		125652614	-1	tier1	-	no_errors	ENST00000357244	ensembl	human	known	74_37	missense	10.00	72	8	SNP	1.000	A	A	125652614	C	A	125652614	3	1	160	1	0	0	0	0	1	0	0	0	13212	884	31	2	3165	2	RC3H2	9	125652614	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	166303	125652614	15560817	207	40704											
FIBCD1	84929	genome.wustl.edu	37	chr9	133787269	133787270	+	Frame_Shift_Ins	INS	-	-	A																															gagccgtcctcccggcgctgINSaaacacctgcaaagggaaga																										TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:133787269_133787270insA	ENST00000372338.4	-	5	1097_1098	c.855_856insT	c.(853-858)tttcagfs	p.Q286fs	FIBCD1_ENST00000448616.1_Frame_Shift_Ins_p.Q286fs|FIBCD1_ENST00000372337.2_Frame_Shift_Ins_p.Q128fs|FIBCD1_ENST00000253018.4_Frame_Shift_Ins_p.Q128fs	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	286	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TCCCGGCGCTGAAACACCTGCA	0.673																																																	0																																										SO:0001589	frameshift_variant	0			AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.856dupT	9.37:g.133787272_133787272dupA	ENSP00000361413:p.Gln286fs		A3KFK0|Q6UXK6|Q96SJ7	Frame_Shift_Ins	INS	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Q285fs	ENST00000372338.4	37	c.856_855	CCDS6937.1	9																																																																																			FIBCD1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000130720		0.673	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIBCD1	HGNC	protein_coding	OTTHUMT00000054687.2		0	153	0	-	NM_032843		133787270	-1	tier1		no_errors	ENST00000372338	ensembl	human	known	74_37	frame_shift_ins	12.15	94	13	INS	1.000:0.704	A	A	133787270	-	A	133787269	7	5	160	1	0	1	1	0	0	0	0	0	5906	1299	45	0	541	0	FIBCD1	9	133787269	Frame_Shift_Ins	INS	-	TCGA-V5-AASX-01A-11D-A387-09	8134655	133787269	7426162	208	40705											
BAT2L1	84726	genome.wustl.edu	37	chr9	134353920	134353920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagtgaggtgggttctatgGtgggcgaaggcttcatcgaa	9	10	17	5	2	2	2	1	1	1	1	3	4	2	2	0	5	0	2	0	5	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:134353920G>T	ENST00000357304.4	+	17	4727	c.4672G>T	c.(4672-4674)Gtg>Ttg	p.V1558L	PRRC2B_ENST00000458550.1_Missense_Mutation_p.V864L|PRRC2B_ENST00000405995.1_Missense_Mutation_p.V864L|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1558							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						GGGTTCTATGGTGGGCGAAGG	0.572											OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													126	134	131					9																	134353920		1901	4118	6019	SO:0001583	missense	0			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.4672G>T	9.37:g.134353920G>T	ENSP00000349856:p.Val1558Leu	1610	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.V1558L	ENST00000357304.4	37	c.4672	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.17|12.17	1.856517|1.856517	0.32791|0.32791	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000451855|ENST00000405995;ENST00000357304;ENST00000458550	.|T;T;T	.|0.02525	.|4.26;4.55;4.26	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.414784	.|0.17053	.|U	.|0.188843	T|T	0.04318|0.04318	0.0119|0.0119	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28055	.|0.144;0.199	.|B;B	.|0.29785	.|0.107;0.049	T|T	0.51601|0.51601	-0.8685|-0.8685	5|10	.|0.25751	.|T	.|0.34	-36.1137|-36.1137	13.8931|13.8931	0.63753|0.63753	0.0:0.1524:0.8475:0.0|0.0:0.1524:0.8475:0.0	.|.	.|291;1558	.|Q5JSZ8;Q5JSZ5	.|.;PRC2B_HUMAN	V|L	291|864;1558;864	.|ENSP00000384606:V864L;ENSP00000349856:V1558L;ENSP00000398853:V864L	.|ENSP00000349856:V1558L	G|V	+|+	2|1	0|0	PRRC2B|PRRC2B	133343741|133343741	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.670000|0.670000	0.39368|0.39368	3.275000|3.275000	0.51639|0.51639	2.549000|2.549000	0.85964|0.85964	0.561000|0.561000	0.74099|0.74099	GGT|GTG	PRRC2B	-	NULL	ENSG00000130723		0.572	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		-	0	107	0	G			134353920	1	tier1	-	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.978	T	T	134353920	G	T	134353920	3	4	160	1	0	0	0	0	1	0	0	0	1321	1261	44	3	4738	3	BAT2L1	9	134353920	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	566651	134353920	6859511	209	40706											
OBP2A	29991	genome.wustl.edu	37	chr9	138439763	138439763	+	Silent	SNP	C	C	T	0	0	0	1	1	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	caggagctgcccgggacggaCgactacgtcttttactgcaa	9	8	12	12	4	1	0	0	0	1	0	1	4	1	3	1	3	5	2	1	3	3	3	rs533103497		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:138439763C>T	ENST00000539850.1	+	4	350	c.324C>T	c.(322-324)gaC>gaT	p.D108D	OBP2A_ENST00000371776.1_Silent_p.D108D|OBP2A_ENST00000342114.4_Nonsense_Mutation_p.R64*|OBP2A_ENST00000340780.3_Silent_p.D108D			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	108					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.D108D(3)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCGGGACGGACGACTACGTCT	0.612																																																	3	Substitution - coding silent(3)	urinary_tract(1)|large_intestine(1)|endometrium(1)											60	54	56					9																	138439763		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"Lipocalins"	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.324C>T	9.37:g.138439763C>T			Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Nonsense_Mutation	SNP	superfamily_Calycin-like	p.R64*	ENST00000539850.1	37	c.190	CCDS6992.1	9	.	.	.	.	.	.	.	.	.	.	c	12.49	1.953679	0.34471	.	.	ENSG00000122136	ENST00000342114	.	.	.	2.25	-1.04	0.10068	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-41.1138	0.8831	0.01238	0.2262:0.3671:0.2464:0.1602	.	.	.	.	X	64	.	ENSP00000340950:R64X	R	+	1	2	OBP2A	137579584	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.586000	0.05787	-0.254000	0.09500	-0.513000	0.04457	CGA	OBP2A	-	NULL	ENSG00000122136		0.612	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	OBP2A	HGNC	protein_coding	OTTHUMT00000397904.1	-	0	45	0	C	NM_014582		138439763	1	tier1	-	no_errors	ENST00000342114	ensembl	human	known	74_37	nonsense	14.29	47	8	SNP	0.001	T	T	138439763	C	T	138439763	2	4	160	1	0	0	0	0	0	0	0	1	10849	535	19	1		1	OBP2A	9	138439763	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	4085843	138439763	2773668	210	40707											
CAMSAP1	157922	genome.wustl.edu	37	chr9	138742207	138742207	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagcatatcttccaaggtGagataaaaacatttattaag	17	12	6	6	0	1	1	0	1	1	1	2	2	2	1	1	1	3	1	1	1	8	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:138742207G>A	ENST00000389532.4	-	6	973	c.909C>T	c.(907-909)ctC>ctT	p.L303L	CAMSAP1_ENST00000409386.3_Silent_p.L314L|CAMSAP1_ENST00000312405.6_Silent_p.L25L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	303	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTTCCAAGGTGAGATAAAAAC	0.348																																																	0													75	83	80					9																	138742207		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.909C>T	9.37:g.138742207G>A			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.L314	ENST00000389532.4	37	c.942	CCDS35176.2	9																																																																																			CAMSAP1	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain	ENSG00000130559		0.348	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	-	0	45	0	G	XM_351857		138742207	-1	tier1	-	no_errors	ENST00000409386	ensembl	human	known	74_37	silent	14.71	58	10	SNP	1.000	A	A	138742207	G	A	138742207	2	1	160	1	0	0	0	0	0	0	0	1	2618	1277	45	3		3	CAMSAP1	9	138742207	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	302444	138742207	2471224	211	40708											
ANAPC2	29882	genome.wustl.edu	37	chr9	140075323	140075323	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaagaggtccttgctgccGtagatgctgaccagcaggct	9	9	13	10	1	0	4	0	2	0	2	1	4	1	4	3	2	4	5	3	2	2	2	rs116545473	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:140075323G>A	ENST00000323927.2	-	8	1531	c.1527C>T	c.(1525-1527)taC>taT	p.Y509Y		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	509					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)		CCTTGCTGCCGTAGATGCTGA	0.637													g|||	31	0.0061901	0.0227	0.0014	5008	,	,		18608	0		0	False		,,,				2504	0																0										71,4335	64.1+/-101.4	0,71,2132	119	103	108		1527	-1.8	1	9	dbSNP_132	108	1,8599		0,1,4299	no	coding-synonymous	ANAPC2	NM_013366.3		0,72,6431	AA,AG,GG		0.0116,1.6114,0.5536		509/823	140075323	72,12934	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1527C>T	9.37:g.140075323G>A			Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.Y509	ENST00000323927.2	37	c.1527	CCDS7033.1	9																																																																																			ANAPC2	-	pfam_Cullin_N,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000176248		0.637	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1		0	122	0	G	NM_013366		140075323	-1			no_errors	ENST00000323927	ensembl	human	known	74_37	silent	5.56	85	5	SNP	0.983	A	A	140075323	G	A	140075323	2	1	160	1	0	0	0	0	0	0	0	1	603	1140	40	1		1	ANAPC2	9	140075323	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1333116	140075323	1138108	212	40709											
C10orf18	54906	genome.wustl.edu	37	chr10	5789017	5789017	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggactcatcatcagcCtctaccaccttgggaaggca	11	8	10	12	0	4	0	3	0	1	0	4	3	4	2	3	3	2	1	3	3	3	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:5789017C>G	ENST00000328090.5	+	15	4258	c.3633C>G	c.(3631-3633)gcC>gcG	p.A1211A	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1211																	CATCATCAGCCTCTACCACCT	0.473																																																	0													87	88	88					10																	5789017		2021	4202	6223	SO:0001819	synonymous_variant	0			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.3633C>G	10.37:g.5789017C>G			Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	pfam_DUF3715,pfam_DUF3699	p.A1211	ENST00000328090.5	37	c.3633	CCDS41485.1	10																																																																																			FAM208B	-	NULL	ENSG00000108021		0.473	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2		0	21	0	C	NM_017782		5789017	1			no_errors	ENST00000328090	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.027	G	G	5789017	C	G	5789017	2	3	160	1	0	0	0	0	0	0	0	1	1601	668	24	5		5	C10orf18	10	5789017	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09		5789017	129745730	213	40710											
CELF2	10659	genome.wustl.edu	37	chr10	11330403	11330403	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaatgctttacagttgcaGaacctggcgacgctggctgc	9	10	12	10	2	0	2	0	1	0	1	0	3	0	2	1	2	5	5	1	2	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:11330403G>A	ENST00000379261.4	+	9	935	c.843G>A	c.(841-843)caG>caA	p.Q281Q	CELF2_ENST00000427450.1_Silent_p.Q257Q|CELF2_ENST00000315874.4_Silent_p.Q257Q|CELF2_ENST00000450189.1_Silent_p.Q288Q|CELF2_ENST00000399850.3_Silent_p.Q257Q|CELF2_ENST00000609692.1_Silent_p.Q257Q|CELF2_ENST00000417956.2_Silent_p.Q257Q|CELF2_ENST00000542579.1_Silent_p.Q288Q|CELF2_ENST00000537122.1_Silent_p.Q170Q|CELF2_ENST00000608830.1_Silent_p.Q257Q|CELF2_ENST00000416382.2_Silent_p.Q281Q|CELF2_ENST00000354440.2_Silent_p.Q257Q|CELF2_ENST00000354897.3_Silent_p.Q257Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	281	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TACAGTTGCAGAACCTGGCGA	0.562																																																	0													49	51	50					10																	11330403		2015	4181	6196	SO:0001819	synonymous_variant	0			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.843G>A	10.37:g.11330403G>A			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.Q288	ENST00000379261.4	37	c.864	CCDS44354.1	10																																																																																			CELF2	-	NULL	ENSG00000048740		0.562	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		-	0	28	0	G			11330403	1	tier1	-	no_errors	ENST00000450189	ensembl	human	known	74_37	silent	18.92	30	7	SNP	1.000	A	A	11330403	G	A	11330403	2	1	160	1	0	0	0	0	0	0	0	1	3223	933	33	3		3	CELF2	10	11330403	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	5541386	11330403	124204344	214	40711											
PARD3	56288	genome.wustl.edu	37	chr10	34759145	34759145	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcactgacagaagtggagagGccaattagagctgggtcact	12	8	13	8	0	2	4	2	1	0	3	2	5	2	4	1	3	1	1	1	3	3	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:34759145G>T	ENST00000374789.3	-	4	775	c.450C>A	c.(448-450)ggC>ggA	p.G150G	PARD3_ENST00000350537.4_Silent_p.G150G|PARD3_ENST00000374776.1_Silent_p.G150G|PARD3_ENST00000340077.5_Silent_p.G150G|PARD3_ENST00000374790.3_Silent_p.G150G|PARD3_ENST00000545693.1_Silent_p.G150G|PARD3_ENST00000346874.4_Silent_p.G150G|PARD3_ENST00000374773.1_Silent_p.G150G|PARD3_ENST00000545260.1_Silent_p.G150G|PARD3_ENST00000374788.3_Silent_p.G150G|PARD3_ENST00000374794.3_Silent_p.G150G	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	150					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AAGTGGAGAGGCCAATTAGAG	0.423																																																	0													126	125	126					10																	34759145		2203	4300	6503	SO:0001819	synonymous_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.450C>A	10.37:g.34759145G>T			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G150	ENST00000374789.3	37	c.450	CCDS7178.1	10																																																																																			PARD3	-	NULL	ENSG00000148498		0.423	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	-	0	43	0	G	NM_019619		34759145	-1	tier1	-	no_errors	ENST00000374789	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T	T	34759145	G	T	34759145	2	4	160	1	0	0	0	0	0	0	0	1	11482	1190	42	3		3	PARD3	10	34759145	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	23428742	34759145	100775602	215	40712											
HNRNPF	3185	genome.wustl.edu	37	chr10	43882717	43882717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggtcatagggccctggccGctgcacggacatgaacttca	8	7	12	14	3	2	1	2	1	0	0	2	2	2	2	3	4	2	2	3	4	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:43882717G>A	ENST00000544000.1	-	4	1023	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	HNRNPF_ENST00000357065.4_Missense_Mutation_p.R206W|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000337970.3_Missense_Mutation_p.R206W|HNRNPF_ENST00000356053.3_Missense_Mutation_p.R206W|HNRNPF_ENST00000443950.2_Missense_Mutation_p.R206W	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	206					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						GGCCCTGGCCGCTGCACGGAC	0.582																																																	0													71	68	69					10																	43882717		2203	4300	6503	SO:0001583	missense	0				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.616C>T	10.37:g.43882717G>A	ENSP00000438061:p.Arg206Trp		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.R206W	ENST00000544000.1	37	c.616	CCDS7204.1	10	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111295	0.20714	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	3.85	-1.66	0.08265	.	0.052122	0.64402	N	0.000001	T	0.09555	0.0235	L	0.46157	1.445	0.58432	D	0.999999	B	0.19445	0.036	B	0.18561	0.022	T	0.12630	-1.0540	10	0.41790	T	0.15	-11.1458	4.759	0.13099	0.1751:0.0:0.3938:0.4311	.	206	P52597	HNRPF_HUMAN	W	206;206;206;206;206;129	ENSP00000438061:R206W;ENSP00000400433:R206W;ENSP00000348345:R206W;ENSP00000349573:R206W;ENSP00000338477:R206W	ENSP00000338477:R206W	R	-	1	2	HNRNPF	43202723	1.000000	0.71417	0.925000	0.36789	0.964000	0.63967	2.420000	0.44679	-0.314000	0.08716	-0.894000	0.02916	CGG	HNRNPF	-	NULL	ENSG00000169813		0.582	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPF	HGNC	protein_coding	OTTHUMT00000047705.2		0	45	0	G			43882717	-1			no_errors	ENST00000337970	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.997	A	A	43882717	G	A	43882717	3	1	160	1	0	0	0	0	1	0	0	0	7292	1086	38	1	635	1	HNRNPF	10	43882717	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	9123572	43882717	91652030	216	40713											
PPYR1	5540	genome.wustl.edu	37	chr10	47087562	47087562	+	Missense_Mutation	SNP	T	T	C	0	1	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	cagcttgcgagctgggcacaTgaagcaggtcaatgtggtgc	9	8	15	9	1	1	1	1	1	0	0	1	2	1	1	0	3	5	4	0	3	2	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:47087562T>C	ENST00000395716.1	+	2	864	c.779T>C	c.(778-780)aTg>aCg	p.M260T	NPY4R_ENST00000374312.1_Missense_Mutation_p.M260T			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	260					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|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)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GCTGGGCACATGAAGCAGGTC	0.592																																																	0													159	114	129					10																	47087562		2203	4300	6503	SO:0001583	missense	0				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.779T>C	10.37:g.47087562T>C	ENSP00000379066:p.Met260Thr		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.M260T	ENST00000395716.1	37	c.779	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.733269	0.00687	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.71103	-0.54;-0.54	5.18	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.398244	0.28230	N	0.016112	T	0.50888	0.1642	L	0.27053	0.805	0.30216	N	0.797221	B	0.15930	0.015	B	0.19666	0.026	T	0.40608	-0.9554	10	0.13470	T	0.59	.	5.3189	0.15870	0.0:0.0974:0.1761:0.7265	.	260	P50391	NPY4R_HUMAN	T	260	ENSP00000363431:M260T;ENSP00000379066:M260T	ENSP00000363431:M260T	M	+	2	0	PPYR1	46507568	0.992000	0.36948	0.988000	0.46212	0.072000	0.16883	0.995000	0.29706	0.929000	0.37192	0.533000	0.62120	ATG	NPY4R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt	ENSG00000204174		0.592	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY4R	HGNC	protein_coding	OTTHUMT00000047837.1	-	0	49	0	T			47087562	1	tier1	-	no_errors	ENST00000374312	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.954	C	C	47087562	T	C	47087562	3	2	160	1	0	0	0	0	1	0	0	0	12458	1464	51	4	781	4	PPYR1	10	47087562	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	3204845	47087562	88447185	217	40714											
LRRC18	474354	genome.wustl.edu	37	chr10	50122166	50122166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccaccttgagggtgatcTtcttgcccttggggcctttc	3	14	12	12	0	2	2	0	2	2	0	3	2	2	2	4	4	1	0	4	4	0	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:50122166T>C	ENST00000374160.3	-	1	111	c.35A>G	c.(34-36)aAg>aGg	p.K12R	WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.K12R|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	12						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAGGGTGATCTTCTTGCCCTT	0.438																																																	0													63	61	62					10																	50122166		2203	4300	6503	SO:0001583	missense	0			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.35A>G	10.37:g.50122166T>C	ENSP00000363275:p.Lys12Arg		Q6UY02	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K12R	ENST00000374160.3	37	c.35	CCDS31197.1	10	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427653	0.83667	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.59364	0.45;0.27	6.06	6.06	0.98353	.	0.142490	0.64402	D	0.000009	T	0.56441	0.1985	M	0.74881	2.28	0.48511	D	0.999664	P	0.47106	0.89	B	0.38954	0.286	T	0.61831	-0.6982	9	.	.	.	.	12.3891	0.55348	0.0:0.0668:0.0:0.9332	.	12	Q8N456	LRC18_HUMAN	R	12	ENSP00000363275:K12R;ENSP00000298124:K12R	.	K	-	2	0	LRRC18	49792172	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.033000	0.64146	2.323000	0.78572	0.528000	0.53228	AAG	LRRC18	-	NULL	ENSG00000165383		0.438	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC18	HGNC	protein_coding	OTTHUMT00000047964.1	-	0	36	0	T	NM_001006939		50122166	-1	tier1	-	no_errors	ENST00000374160	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	C	C	50122166	T	C	50122166	3	2	160	1	0	0	0	0	1	0	0	0	9009	1609	56	4	758	4	LRRC18	10	50122166	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	3034604	50122166	85412581	218	40715											
C10orf71	118461	genome.wustl.edu	37	chr10	50532636	50532636	+	Silent	SNP	T	T	G	0	1	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	gtgtcccaagagacagaaccTgagagggaagcaggacttca	14	5	13	9	0	1	3	1	1	0	3	2	7	2	5	2	2	2	1	2	2	3	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:50532636T>G	ENST00000374144.3	+	3	2334	c.2046T>G	c.(2044-2046)ccT>ccG	p.P682P	C10orf71_ENST00000323868.4_Silent_p.P682P			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	682										endometrium(1)	1						AGACAGAACCTGAGAGGGAAG	0.502																																																	0													43	46	45					10																	50532636		1878	4098	5976	SO:0001819	synonymous_variant	0			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.2046T>G	10.37:g.50532636T>G			A0AVL8	Silent	SNP	NULL	p.P682	ENST00000374144.3	37	c.2046	CCDS44387.1	10																																																																																			C10orf71	-	NULL	ENSG00000177354		0.502	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	-	0	46	0	T	NM_199459		50532636	1	tier1	-	no_errors	ENST00000374144	ensembl	human	known	74_37	silent	23.81	32	10	SNP	0.000	G	G	50532636	T	G	50532636	2	3	160	1	0	0	0	0	0	0	0	1	1619	1567	55	4		4	C10orf71	10	50532636	Silent	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	410470	50532636	85002111	219	40716											
SLC18A3	6572	genome.wustl.edu	37	chr10	50820256	50820256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgcttgatgagccaccGcaaggtctgtacgatgcggt	7	10	14	10	3	1	2	0	2	1	0	1	3	1	2	2	2	5	4	2	2	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:50820256G>A	ENST00000374115.3	+	1	1910	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	490					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.P490P(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ATGAGCCACCGCAAGGTCTGT	0.667																																																	1	Substitution - coding silent(1)	endometrium(1)											64	60	61					10																	50820256		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1470G>A	10.37:g.50820256G>A			B2R7S1	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P490	ENST00000374115.3	37	c.1470	CCDS7231.1	10																																																																																			SLC18A3	-	NULL	ENSG00000187714		0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1		0	36	0	G	NM_003055		50820256	1			no_errors	ENST00000374115	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.984	A	A	50820256	G	A	50820256	2	1	160	1	0	0	0	0	0	0	0	1	14472	1074	38	1		1	SLC18A3	10	50820256	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	287620	50820256	84714491	220	40717											
FAM13C	220965	genome.wustl.edu	37	chr10	61043173	61043173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgggttgatgctggcgccGggtccttgactccatgcacc	4	11	13	13	2	1	2	0	2	1	0	3	2	3	2	4	3	2	3	4	3	0	2	rs374540049		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:61043173G>A	ENST00000373868.2	-	6	629	c.542C>T	c.(541-543)cCg>cTg	p.P181L	FAM13C_ENST00000373867.3_Missense_Mutation_p.P98L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P202L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P202L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P181L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P181L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P181L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P98L|RP11-443O13.3_ENST00000433249.1_RNA	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	181										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						TGCTGGCGCCGGGTCCTTGAC	0.522																																																	0								G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	161	157	158		542,293,293,542	3	0	10		158	0,8600		0,0,4300	no	missense,missense,missense,missense	FAM13C	NM_001001971.2,NM_001143773.1,NM_001166698.1,NM_198215.3	98,98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	181/488,98/503,98/502,181/586	61043173	1,13005	2203	4300	6503	SO:0001583	missense	0			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.542C>T	10.37:g.61043173G>A	ENSP00000362975:p.Pro181Leu		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.P181L	ENST00000373868.2	37	c.542	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664969	0.29604	2.27E-4	0.0	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T;T	0.76709	-1.04;0.97;-1.01;-1.01;0.94;-1.04;0.93;0.93	4.85	3.0	0.34707	.	0.173472	0.39985	N	0.001214	T	0.81987	0.4939	M	0.66939	2.045	0.26352	N	0.977199	P;D;D;P;P	0.76494	0.91;0.999;0.973;0.695;0.91	B;P;B;B;B	0.57425	0.409;0.82;0.432;0.231;0.263	T	0.74028	-0.3796	10	0.59425	D	0.04	-1.5177	10.0998	0.42497	0.0723:0.0:0.791:0.1366	.	181;98;181;181;181	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	98;181;202;202;181;98;181;181	ENSP00000362974:P98L;ENSP00000362975:P181L;ENSP00000395661:P202L;ENSP00000277705:P202L;ENSP00000391993:P181L;ENSP00000423896:P98L;ENSP00000392302:P181L;ENSP00000400241:P181L	ENSP00000277705:P202L	P	-	2	0	FAM13C	60713179	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	3.278000	0.51662	0.568000	0.29311	-1.059000	0.02297	CCG	FAM13C	-	NULL	ENSG00000148541		0.522	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	-	0	67	0	G			61043173	-1	tier1	-	no_errors	ENST00000373868	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.215	A	A	61043173	G	A	61043173	3	1	160	1	0	0	0	0	1	0	0	0	5473	1116	39	1	1251	1	FAM13C	10	61043173	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	10222917	61043173	74491574	221	40718											
HNRNPH3	3189	genome.wustl.edu	37	chr10	70097637	70097637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggaaatcgtgccaaatggGataacattgacgatggacta	14	10	11	6	2	0	1	0	1	0	0	1	5	0	4	1	3	2	0	1	3	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:70097637G>A	ENST00000265866.7	+	3	300	c.135G>A	c.(133-135)ggG>ggA	p.G45G	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Silent_p.G45G|HNRNPH3_ENST00000441000.2_Intron	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	45	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						TGCCAAATGGGATAACATTGA	0.458																																																	0													154	145	148					10																	70097637		2203	4300	6503	SO:0001819	synonymous_variant	0				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.135G>A	10.37:g.70097637G>A			A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G45	ENST00000265866.7	37	c.135	CCDS7278.1	10																																																																																			HNRNPH3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000096746		0.458	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH3	HGNC	protein_coding	OTTHUMT00000090165.1	-	0	81	0	G			70097637	1	tier1	-	no_errors	ENST00000265866	ensembl	human	known	74_37	silent	11.11	80	10	SNP	1.000	A	A	70097637	G	A	70097637	2	1	160	1	0	0	0	0	0	0	0	1	7295	1161	41	3		3	HNRNPH3	10	70097637	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	9054464	70097637	65437110	222	40719											
HKDC1	80201	genome.wustl.edu	37	chr10	71018676	71018676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	catctggacccgatacgacaCggaggtggatgaggggtcct	9	7	15	10	3	1	1	0	1	1	0	2	6	2	4	2	6	1	0	2	6	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:71018676C>T	ENST00000354624.5	+	15	2310	c.2177C>T	c.(2176-2178)aCg>aTg	p.T726M	HKDC1_ENST00000395086.2_Missense_Mutation_p.T726M	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	726	Hexokinase type-2 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						CGATACGACACGGAGGTGGAT	0.517																																																	0													143	113	123					10																	71018676		2203	4300	6503	SO:0001583	missense	0				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.2177C>T	10.37:g.71018676C>T	ENSP00000346643:p.Thr726Met		B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.T726M	ENST00000354624.5	37	c.2177	CCDS7288.1	10	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025155	0.35701	.	.	ENSG00000156510	ENST00000354624;ENST00000395086	D;D	0.96334	-3.98;-3.98	5.39	0.377	0.16198	Hexokinase, C-terminal (1);	0.874102	0.10171	N	0.707142	D	0.88658	0.6496	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.80308	-0.1437	10	0.59425	D	0.04	-12.9465	1.903	0.03271	0.4425:0.272:0.1727:0.1128	.	726	Q2TB90	HKDC1_HUMAN	M	726	ENSP00000346643:T726M;ENSP00000378521:T726M	ENSP00000346643:T726M	T	+	2	0	HKDC1	70688682	0.000000	0.05858	1.000000	0.80357	0.935000	0.57460	-1.692000	0.01918	0.867000	0.35654	0.455000	0.32223	ACG	HKDC1	-	pfam_Hexokinase_C	ENSG00000156510		0.517	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	-	0	35	0	C	NM_025130		71018676	1	tier1	-	no_errors	ENST00000354624	ensembl	human	known	74_37	missense	27.27	32	12	SNP	0.415	T	T	71018676	C	T	71018676	3	4	160	1	0	0	0	0	1	0	0	0	7220	536	19	1	2235	1	HKDC1	10	71018676	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	921039	71018676	64516071	223	40720											
NODAL	4838	genome.wustl.edu	37	chr10	72195386	72195386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcggtgtggggggccGcggccagcactctccagcta	5	5	18	13	3	1	0	0	0	1	0	2	0	1	0	3	7	2	3	3	7	1	1	rs201258671		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:72195386G>A	ENST00000287139.3	-	2	546	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	AC022532.1_ENST00000420338.2_Silent_p.P111P	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	183			R -> Q (in HTX5; dbSNP:rs104894169). {ECO:0000269|PubMed:9354794}.		axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GTGGGGGGCCGCGGCCAGCAC	0.632													G|||	1	0.000199681	0	0	5008	,	,		17473	0		0.001	False		,,,				2504	0																0													30	32	32					10																	72195386		2203	4300	6503	SO:0001583	missense	0			BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"nodal, mouse, homolog", "nodal homolog (mouse)"			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.547C>T	10.37:g.72195386G>A	ENSP00000287139:p.Arg183Trp		Q2M3A5|Q8N4V3	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.R183W	ENST00000287139.3	37	c.547	CCDS7304.1	10	10	0.004578754578754579	1	0.0020325203252032522	1	0.0027624309392265192	2	0.0034965034965034965	6	0.0079155672823219	G	10.31	1.314884	0.23908	.	.	ENSG00000156574	ENST00000287139;ENST00000414871	D;D	0.85171	-1.95;-1.93	5.88	4.98	0.66077	.	0.620051	0.16185	N	0.225677	T	0.64125	0.2570	N	0.24115	0.695	0.09310	N	1	D	0.56968	0.978	B	0.32805	0.153	T	0.64011	-0.6507	10	0.72032	D	0.01	.	10.1321	0.42685	0.1541:0.0:0.8459:0.0	.	183	Q96S42	NODAL_HUMAN	W	183;128	ENSP00000287139:R183W;ENSP00000394468:R128W	ENSP00000287139:R183W	R	-	1	2	NODAL	71865392	0.093000	0.21703	0.007000	0.13788	0.019000	0.09904	0.923000	0.28757	1.485000	0.48380	0.655000	0.94253	CGG	NODAL	-	NULL	ENSG00000156574		0.632	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NODAL	HGNC	protein_coding	OTTHUMT00000048511.1		0	53	0	G	NM_018055		72195386	-1			no_errors	ENST00000287139	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.001	A	A	72195386	G	A	72195386	3	1	160	1	0	0	0	0	1	0	0	0	10557	1086	38	1	504	1	NODAL	10	72195386	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1176710	72195386	63339361	224	40721											
UNC5B	219699	genome.wustl.edu	37	chr10	73044488	73044488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcccaggcctgcgggtgCgcgaggtgcagatcgaggtg	5	7	17	12	4	0	1	0	0	0	1	3	3	2	1	3	4	3	1	3	4	0	0	rs546878424		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:73044488C>T	ENST00000335350.6	+	3	732	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	UNC5B_ENST00000373192.4_Missense_Mutation_p.R106C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	106	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						CCTGCGGGTGCGCGAGGTGCA	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		14760	0		0	False		,,,				2504	0																0													62	59	60					10																	73044488		2203	4300	6503	SO:0001583	missense	0			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.316C>T	10.37:g.73044488C>T	ENSP00000334329:p.Arg106Cys		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.R106C	ENST00000335350.6	37	c.316	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935130	0.52866	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.24538	1.85;1.85	4.82	4.82	0.62117	Immunoglobulin-like fold (1);	0.058345	0.64402	D	0.000005	T	0.50205	0.1602	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.51903	-0.8646	10	0.52906	T	0.07	-5.9091	13.7237	0.62745	0.1546:0.8454:0.0:0.0	.	106;106	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	C	106	ENSP00000334329:R106C;ENSP00000362288:R106C	ENSP00000334329:R106C	R	+	1	0	UNC5B	72714494	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	0.986000	0.29590	2.207000	0.71202	0.555000	0.69702	CGC	UNC5B	-	smart_Ig_sub	ENSG00000107731		0.672	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1		0	41	0	C	NM_170744		73044488	1			no_errors	ENST00000335350	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	73044488	C	T	73044488	3	4	160	1	0	0	0	0	1	0	0	0	17041	768	27	1	326	1	UNC5B	10	73044488	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	849102	73044488	62490259	225	40722											
FRA10AC1	118924	genome.wustl.edu	37	chr10	95443844	95443844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttaatttaatggaacattCttggcataaccctaaaaaga	17	13	5	6	0	1	1	0	0	1	1	1	2	1	2	1	2	2	1	1	2	7	8			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:95443844C>T	ENST00000359204.4	-	10	834	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	FRA10AC1_ENST00000394100.2_Missense_Mutation_p.E213K|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.E213K|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.E213K	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	213	Lys-rich.					nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						ATGGAACATTCTTGGCATAAC	0.308																																																	0													133	151	145					10																	95443844		2203	4300	6503	SO:0001583	missense	0			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"chromosome 10 open reading frame 4"	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.637G>A	10.37:g.95443844C>T	ENSP00000360488:p.Glu213Lys		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	pfam_Folate-sensitive_fs_Fra10Ac1	p.E213K	ENST00000359204.4	37	c.637	CCDS7430.1	10	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407601	0.62399	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.22539	1.95;1.98;1.95;1.97	4.92	4.92	0.64577	.	0.046901	0.85682	D	0.000000	T	0.20495	0.0493	L	0.31294	0.92	0.58432	D	0.999999	B	0.18461	0.028	B	0.27380	0.079	T	0.03875	-1.0996	10	0.38643	T	0.18	-6.7724	18.4728	0.90781	0.0:1.0:0.0:0.0	.	213	Q70Z53	F10C1_HUMAN	K	213	ENSP00000360488:E213K;ENSP00000438405:E213K;ENSP00000360484:E213K;ENSP00000377660:E213K	ENSP00000360488:E213K	E	-	1	0	FRA10AC1	95433834	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.866000	0.63005	2.426000	0.82243	0.650000	0.86243	GAA	FRA10AC1	-	pfam_Folate-sensitive_fs_Fra10Ac1	ENSG00000148690		0.308	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1	-	0	41	0	C	NM_145246		95443844	-1	tier1	-	no_errors	ENST00000359204	ensembl	human	known	74_37	missense	10.00	72	8	SNP	1.000	T	T	95443844	C	T	95443844	3	4	160	1	0	0	0	0	1	0	0	0	6065	922	32	3	330	3	FRA10AC1	10	95443844	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	22399356	95443844	40090903	226	40723											
LGI1	9211	genome.wustl.edu	37	chr10	95518077	95518077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctttatgtgagaatgccaGatccattccacgcaccgttc	9	12	8	12	2	0	2	0	1	0	2	3	3	2	2	4	0	2	3	4	0	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:95518077G>C	ENST00000371418.4	+	1	436	c.176G>C	c.(175-177)aGa>aCa	p.R59T	LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000542308.1_Missense_Mutation_p.R59T|LGI1_ENST00000371413.3_Missense_Mutation_p.R59T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	59	LRRNT.				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)				GAGAATGCCAGATCCATTCCA	0.433																																																	0													173	167	169					10																	95518077		2203	4300	6503	SO:0001583	missense	0			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.176G>C	10.37:g.95518077G>C	ENSP00000360472:p.Arg59Thr		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.R59T	ENST00000371418.4	37	c.176	CCDS7431.1	10	.	.	.	.	.	.	.	.	.	.	G	8.020	0.759495	0.15846	.	.	ENSG00000108231	ENST00000542308;ENST00000371418;ENST00000371413	T;T;T	0.76578	-1.03;-0.06;0.03	5.11	5.11	0.69529	Leucine-rich repeat-containing N-terminal (1);	0.213883	0.50627	D	0.000114	T	0.64702	0.2622	L	0.40543	1.245	0.45390	D	0.998379	P;B;B	0.37276	0.589;0.022;0.004	B;B;B	0.33620	0.167;0.022;0.007	T	0.60732	-0.7205	10	0.15066	T	0.55	-11.7645	10.4038	0.44246	0.1497:0.0:0.8503:0.0	.	59;59;59	O95970-3;O95970-2;O95970	.;.;LGI1_HUMAN	T	59	ENSP00000440763:R59T;ENSP00000360472:R59T;ENSP00000360467:R59T	ENSP00000360467:R59T	R	+	2	0	LGI1	95508067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.754000	0.68743	2.673000	0.90976	0.555000	0.69702	AGA	LGI1	-	NULL	ENSG00000108231		0.433	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	-	0	73	0	G	NM_005097		95518077	1	tier1	-	no_errors	ENST00000371418	ensembl	human	known	74_37	missense	6.17	76	5	SNP	1.000	C	C	95518077	G	C	95518077	3	2	160	1	0	0	0	0	1	0	0	0	8780	942	33	5	178	5	LGI1	10	95518077	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	74233	95518077	40016670	227	40724											
ALDH18A1	5832	genome.wustl.edu	37	chr10	97386501	97386501	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatccttcctccagatcGcgccatttctccctgctgct	6	12	5	18	2	1	1	0	0	1	1	6	1	4	1	5	0	3	2	5	0	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:97386501G>A	ENST00000371224.2	-	10	1248	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	ALDH18A1_ENST00000371221.3_Nonsense_Mutation_p.R369*	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	371	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CCTCCAGATCGCGCCATTTCT	0.443																																																	0													147	115	126					10																	97386501		2203	4300	6503	SO:0001587	stop_gained	0			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1111C>T	10.37:g.97386501G>A	ENSP00000360268:p.Arg371*		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Nonsense_Mutation	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.R371*	ENST00000371224.2	37	c.1111	CCDS7443.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.559706	0.98358	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3307	17.9158	0.88950	0.0:0.0:1.0:0.0	.	.	.	.	X	371;369	.	ENSP00000360265:R369X	R	-	1	2	ALDH18A1	97376491	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.135000	0.77276	2.832000	0.97577	0.655000	0.94253	CGA	ALDH18A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	ENSG00000059573		0.443	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	-	0	133	0	G	NM_002860		97386501	-1	tier1	-	no_errors	ENST00000371224	ensembl	human	known	74_37	nonsense	7.69	84	7	SNP	1.000	A	A	97386501	G	A	97386501	4	1	160	1	0	0	0	0	0	1	0	0	489	1095	38	1	1312	1	ALDH18A1	10	97386501	Nonsense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1868424	97386501	38148246	228	40725											
ARHGAP19	84986	genome.wustl.edu	37	chr10	99003913	99003913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagctatgaggtcaaggtCatcctaaggaaaatttaaaa	17	10	9	5	0	2	2	2	2	0	0	3	3	3	3	1	3	1	1	1	3	8	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:99003913C>T	ENST00000358531.4	-	8	1025	c.997G>A	c.(997-999)Gac>Aac	p.D333N	ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.D324N|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.D324N|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.D333N|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.D333N|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.D304N	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	333					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)		AGGTCAAGGTCATCCTAAGGA	0.428																																																	0													65	67	66					10																	99003913		2203	4300	6503	SO:0001583	missense	0			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.997G>A	10.37:g.99003913C>T	ENSP00000351333:p.Asp333Asn		A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D333N	ENST00000358531.4	37	c.997	CCDS7454.2	10	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524483	0.85600	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.12465	2.97;2.98;2.99;2.98;2.99;2.68	5.55	5.55	0.83447	.	0.000000	0.85682	U	0.000000	T	0.37999	0.1024	M	0.69823	2.125	0.50313	D	0.999866	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.68765	0.959;0.913;0.96	T	0.02909	-1.1095	10	0.44086	T	0.13	-14.5916	19.1131	0.93326	0.0:1.0:0.0:0.0	.	304;333;324	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	N	333;333;324;333;324;152;304	ENSP00000414774:D333N;ENSP00000324468:D333N;ENSP00000347526:D324N;ENSP00000351333:D333N;ENSP00000360066:D324N;ENSP00000351058:D304N	ENSP00000324468:D333N	D	-	1	0	ARHGAP19	98993903	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.684000	0.68197	2.601000	0.87937	0.655000	0.94253	GAC	ARHGAP19-SLIT1	-	NULL	ENSG00000269891		0.428	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP19-SLIT1	HGNC	protein_coding	OTTHUMT00000049647.2	-	0	44	0	C	NM_032900		99003913	-1	tier1	-	no_errors	ENST00000453547	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T	T	99003913	C	T	99003913	3	4	160	1	0	0	0	0	1	0	0	0	869	826	29	3	507	3	ARHGAP19	10	99003913	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1617412	99003913	36530834	229	40726											
CUTC	51076	genome.wustl.edu	37	chr10	101502959	101502959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcccagtttttgtgatGattcggccacggggaggtga	8	11	14	8	2	0	4	0	3	0	1	2	5	1	5	2	4	0	1	2	4	0	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:101502959G>T	ENST00000370476.5	+	4	372	c.243G>T	c.(241-243)atG>atT	p.M81I	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	81					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		TTTTTGTGATGATTCGGCCAC	0.418																																																	0													209	193	199					10																	101502959		2203	4300	6503	SO:0001583	missense	0			AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"cutC copper transporter homolog (E. coli)"			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.243G>T	10.37:g.101502959G>T	ENSP00000359507:p.Met81Ile		Q5TCZ8|Q9Y321	Missense_Mutation	SNP	pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom	p.M81I	ENST00000370476.5	37	c.243	CCDS7483.1	10	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767200	0.49574	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	5.79	5.79	0.91817	Copper homeostasis CutC domain (2);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	L	0.56769	1.78	0.80722	D	1	P;P	0.49559	0.925;0.579	P;P	0.53912	0.737;0.689	T	0.57248	-0.7844	9	0.16896	T	0.51	-17.1561	14.2176	0.65805	0.0711:0.0:0.9289:0.0	.	81;81	B4DYM2;Q9NTM9	.;CUTC_HUMAN	I	81;18	.	ENSP00000359503:M18I	M	+	3	0	CUTC	101492949	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.886000	0.87288	2.732000	0.93576	0.585000	0.79938	ATG	CUTC	-	pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom	ENSG00000119929		0.418	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUTC	HGNC	protein_coding	OTTHUMT00000049811.1	-	0	80	0	G	NM_015960		101502959	1	tier1	-	no_errors	ENST00000370476	ensembl	human	known	74_37	missense	9.46	67	7	SNP	1.000	T	T	101502959	G	T	101502959	3	4	160	1	0	0	0	0	1	0	0	0	4072	1290	45	3	257	3	CUTC	10	101502959	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2499046	101502959	34031788	230	40727											
LZTS2	84445	genome.wustl.edu	37	chr10	102763855	102763855	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctggaaggaaagctcCgagaccgggaggcagagctt	10	6	16	9	2	0	2	0	0	0	2	2	6	2	5	3	4	2	3	3	4	2	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:102763855C>T	ENST00000370220.1	+	2	4063	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R334*					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)		AGGAAAGCTCCGAGACCGGGA	0.637																																					Esophageal Squamous(8;38 437 13604 19902 37640)												0													44	47	46					10																	102763855		2202	4298	6500	SO:0001587	stop_gained	0			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.1000C>T	10.37:g.102763855C>T	ENSP00000359240:p.Arg334*			Nonsense_Mutation	SNP	NULL	p.R334*	ENST00000370220.1	37	c.1000	CCDS7507.1	10	.	.	.	.	.	.	.	.	.	.	C	56	26.378475	0.99968	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	.	.	.	5.12	3.1	0.35709	.	0.178169	0.45867	D	0.000330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7345	12.7394	0.57243	0.4172:0.5827:0.0:0.0	.	.	.	.	X	334	.	.	R	+	1	2	LZTS2	102753845	0.987000	0.35691	0.521000	0.27850	0.824000	0.46624	0.780000	0.26760	1.258000	0.44101	0.561000	0.74099	CGA	LZTS2	-	NULL	ENSG00000107816		0.637	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LZTS2	HGNC	protein_coding	OTTHUMT00000049872.1	-	0	71	0	C	XM_046743		102763855	1	tier1	-	no_errors	ENST00000370220	ensembl	human	known	74_37	nonsense	11.54	69	9	SNP	0.988	T	T	102763855	C	T	102763855	4	4	160	1	0	0	0	0	0	1	0	0	9175	644	23	1	1006	1	LZTS2	10	102763855	Nonsense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1260896	102763855	32770892	231	40728											
XPNPEP1	7511	genome.wustl.edu	37	chr10	111639974	111639974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ccagccagttaaagagttcaCagagagcaacagcatcttta	15	8	8	10	0	2	2	1	0	1	2	2	3	2	2	2	0	4	4	2	0	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:111639974C>T	ENST00000502935.1	-	12	1273	c.1154G>A	c.(1153-1155)tGt>tAt	p.C385Y	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.C342Y|XPNPEP1_ENST00000430337.1_5'Flank|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.C271Y|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.C385Y					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AAAGAGTTCACAGAGAGCAAC	0.368																																																	0													134	130	131					10																	111639974		2203	4300	6503	SO:0001583	missense	0				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1154G>A	10.37:g.111639974C>T	ENSP00000421566:p.Cys385Tyr			Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.C385Y	ENST00000502935.1	37	c.1154	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701857	0.88924	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.67	5.67	0.87782	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.90352	0.6981	H	0.94345	3.525	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	0.92601	0.6091	10	0.87932	D	0	-11.8238	17.9392	0.89022	0.0:1.0:0.0:0.0	.	385;385;342	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	Y	385;271;385;342	ENSP00000421566:C385Y;ENSP00000358697:C271Y;ENSP00000324011:C385Y;ENSP00000358694:C342Y	ENSP00000324011:C385Y	C	-	2	0	XPNPEP1	111629964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.206000	0.77891	2.672000	0.90937	0.557000	0.71058	TGT	XPNPEP1	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain	ENSG00000108039		0.368	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2	-	0	72	0	C			111639974	-1	tier1	-	no_errors	ENST00000502935	ensembl	human	known	74_37	missense	25.00	54	18	SNP	1.000	T	T	111639974	C	T	111639974	3	4	160	1	0	0	0	0	1	0	0	0	17491	478	17	3	886	3	XPNPEP1	10	111639974	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	8876119	111639974	23894773	232	40729											
CALY	50632	genome.wustl.edu	37	chr10	135141459	135141459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctctggccctccaggtCagggaaattctgctggtctg	6	10	12	13	0	4	0	1	0	3	0	5	1	5	1	3	4	2	1	3	4	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:135141459C>A	ENST00000252939.4	-	3	289	c.196G>T	c.(196-198)Gac>Tac	p.D66Y	CALY_ENST00000467611.1_5'Flank|CALY_ENST00000368555.3_Missense_Mutation_p.D66Y|CALY_ENST00000368556.2_Missense_Mutation_p.D66Y|ZNF511_ENST00000368554.4_Intron|CALY_ENST00000368558.1_Missense_Mutation_p.D66Y	NM_015722.3	NP_056537.1	Q9NYX4	CALY_HUMAN	calcyon neuron-specific vesicular protein	66					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)|endocytosis (GO:0006897)|positive regulation of endocytosis (GO:0045807)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)	clathrin light chain binding (GO:0032051)			kidney(1)|lung(2)	3		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;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Trifluoperazine(DB00831)	CCCTCCAGGTCAGGGAAATTC	0.597																																																	0													129	100	110					10																	135141459		2201	4300	6501	SO:0001583	missense	0			AF225903	CCDS7678.1	10q26.3	2008-07-02	2008-01-16	2008-01-16	ENSG00000130643	ENSG00000130643			17938	protein-coding gene	gene with protein product		604647	"dopamine receptor D1 interacting protein"	DRD1IP		10698743, 17623072	Standard	NM_015722		Approved	CALCYON, NSG3	uc001lmo.2	Q9NYX4	OTTHUMG00000019310	ENST00000252939.4:c.196G>T	10.37:g.135141459C>A	ENSP00000252939:p.Asp66Tyr		Q5VWX3|Q5VWY5|Q5VWY6	Missense_Mutation	SNP	pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp	p.D66Y	ENST00000252939.4	37	c.196	CCDS7678.1	10	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614477	0.46631	.	.	ENSG00000130643	ENST00000252939;ENST00000368558;ENST00000368556;ENST00000368555	.	.	.	4.31	4.31	0.51392	.	0.168953	0.36482	N	0.002572	T	0.69088	0.3072	L	0.51422	1.61	0.36824	D	0.886529	D	0.89917	1.0	D	0.91635	0.999	T	0.74856	-0.3522	9	0.56958	D	0.05	-5.1419	13.0002	0.58670	0.0:1.0:0.0:0.0	.	66	Q9NYX4	CALY_HUMAN	Y	66	.	ENSP00000252939:D66Y	D	-	1	0	CALY	134991449	0.002000	0.14202	0.952000	0.39060	0.549000	0.35272	0.423000	0.21313	2.339000	0.79563	0.501000	0.49751	GAC	CALY	-	pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp	ENSG00000130643		0.597	CALY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALY	HGNC	protein_coding	OTTHUMT00000051122.1		0	76	0	C	NM_015722		135141459	-1			no_errors	ENST00000252939	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.945	A	A	135141459	C	A	135141459	3	1	160	1	0	0	0	0	1	0	0	0	2602	826	29	3	469	3	CALY	10	135141459	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	23501485	135141459	393288	233	40730											
MUC2	4583	genome.wustl.edu	37	chr11	1080881	1080883	+	In_Frame_Del	DEL	ACA	ACA	-																															tgccccatcacagggtgaccAcaacgattcctacgctctcc																								rs201057210|rs72655304|rs113812275	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	ACA	ACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:1080881_1080883delACA	ENST00000441003.2	+	10	1292_1294	c.1265_1267delACA	c.(1264-1269)cacaac>cac	p.N423del	MUC2_ENST00000359061.5_In_Frame_Del_p.N423del	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	423	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGGGTGACCACAACGATTCCTA	0.631														45	0.00898562	0.0023	0.0159	5008	,	,		16768	0		0.0298	False		,,,				2504	0.001																0										24,3998		1,22,1988						1.5	0.8		dbSNP_130	54	259,7783		14,231,3776	no	coding	MUC2	NM_002457.2		15,253,5764	A1A1,A1R,RR		3.2206,0.5967,2.3458				283,11781				SO:0001651	inframe_deletion	0			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.1265_1267delACA	11.37:g.1080881_1080883delACA	ENSP00000415183:p.Asn423del		Q14878	In_Frame_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.N423in_frame_del	ENST00000441003.2	37	c.1265_1267		11																																																																																			MUC2	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000198788		0.631	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2		0	24	0	ACA	NM_002457		1080883	1	tier1		no_errors	ENST00000441003	ensembl	human	known	74_37	in_frame_del	66.67	9	18	DEL	0.001:0.004:0.011	-	-	1080883	ACA	-	1080881	7	5	160	1	0	1	0	1	0	0	0	0	10013	159	6	0	1303	0	MUC2	11	1080881	In_Frame_Del	DEL	ACA	TCGA-V5-AASX-01A-11D-A387-09		1080881	133925635	234	40731											
OR51S1	119692	genome.wustl.edu	37	chr11	4869954	4869954	+	Frame_Shift_Del	DEL	C	C	-																															atggcaggggcagatggagaCccaggcatcgaaaagaaatg																										TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:4869954delC	ENST00000322101.2	-	1	560	c.485delG	c.(484-486)ggtfs	p.G162fs	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	162						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)		CAGATGGAGACCCAGGCATCG	0.552																																																	0													102	103	103					11																	4869954		2201	4298	6499	SO:0001589	frameshift_variant	0			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.485delG	11.37:g.4869954delC	ENSP00000322754:p.Gly162fs		B9EGZ1|Q6IFI2	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G162fs	ENST00000322101.2	37	c.485	CCDS31362.1	11																																																																																			OR51S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176922		0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1		0	49	0	C	NM_001004758		4869954	-1	tier1		no_errors	ENST00000322101	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.027	-	-	4869954	C	-	4869954	7	5	160	1	0	1	0	1	0	0	0	0	11144	507	18	0	489	0	OR51S1	11	4869954	Frame_Shift_Del	DEL	C	TCGA-V5-AASX-01A-11D-A387-09	3789073	4869954	130136562	235	40732											
OR51L1	119682	genome.wustl.edu	37	chr11	5021006	5021006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggtgtcaatggtccatcGctttgggaagcatctgtctc	6	13	13	9	1	3	0	1	0	2	0	6	1	4	1	1	4	1	2	1	4	2	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:5021006G>A	ENST00000321543.1	+	1	794	c.794G>A	c.(793-795)cGc>cAc	p.R265H		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGTCCATCGCTTTGGGAAG	0.468																																																	0													203	174	184					11																	5021006		2201	4298	6499	SO:0001583	missense	0			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"GPCR / Class A : Olfactory receptors"	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.794G>A	11.37:g.5021006G>A	ENSP00000322156:p.Arg265His		Q6IFE5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R265H	ENST00000321543.1	37	c.794	CCDS31369.1	11	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175738	0.57692	.	.	ENSG00000176798	ENST00000321543	T	0.37235	1.21	5.43	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000601	T	0.61160	0.2325	M	0.88512	2.96	0.20403	N	0.999904	D	0.76494	0.999	D	0.64877	0.93	T	0.58819	-0.7569	10	0.72032	D	0.01	.	10.2648	0.43449	0.1587:0.0:0.8413:0.0	.	265	Q8NGJ5	O51L1_HUMAN	H	265	ENSP00000322156:R265H	ENSP00000322156:R265H	R	+	2	0	OR51L1	4977582	0.008000	0.16893	0.998000	0.56505	0.949000	0.60115	1.831000	0.39141	1.524000	0.49035	0.650000	0.86243	CGC	OR51L1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176798		0.468	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51L1	HGNC	protein_coding	OTTHUMT00000142812.1	-	0	112	0	G	NM_001004755		5021006	1	tier1	-	no_errors	ENST00000321543	ensembl	human	known	74_37	missense	9.28	88	9	SNP	0.613	A	A	5021006	G	A	5021006	3	1	160	1	0	0	0	0	1	0	0	0	11141	1087	38	1	796	1	OR51L1	11	5021006	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	151052	5021006	129985510	236	40733											
OR51Q1	390061	genome.wustl.edu	37	chr11	5443871	5443871	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagtcattggtagaactggGttagccatcatttgctgctg	9	13	12	7	0	2	1	2	0	0	1	2	2	2	1	1	2	4	4	1	2	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:5443871G>A	ENST00000300778.4	+	1	531	c.441G>A	c.(439-441)ggG>ggA	p.G147G	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, 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)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGAACTGGGTTAGCCATCA	0.517																																																	0													269	229	243					11																	5443871		2201	4297	6498	SO:0001819	synonymous_variant	0			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.441G>A	11.37:g.5443871G>A			B2RNN1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G147	ENST00000300778.4	37	c.441	CCDS31381.1	11																																																																																			OR51Q1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167360		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	HGNC	protein_coding	OTTHUMT00000143373.1	-	0	39	0	G	NM_001004757		5443871	1	tier1	-	no_errors	ENST00000300778	ensembl	human	known	74_37	silent	18.92	30	7	SNP	0.009	A	A	5443871	G	A	5443871	2	1	160	1	0	0	0	0	0	0	0	1	11143	1248	44	3		3	OR51Q1	11	5443871	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	422865	5443871	129562645	237	40734											
OR51Q1	390061	genome.wustl.edu	37	chr11	5444098	5444098	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgatctcctatacacttaTtctgaaaaatatcttgggca	12	15	6	8	0	3	2	0	2	3	0	4	2	3	2	1	1	1	1	1	1	6	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:5444098T>G	ENST00000300778.4	+	1	758	c.668T>G	c.(667-669)aTt>aGt	p.I223S	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATACACTTATTCTGAAAAAT	0.493																																																	0													139	121	127					11																	5444098		2201	4297	6498	SO:0001583	missense	0			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.668T>G	11.37:g.5444098T>G	ENSP00000300778:p.Ile223Ser		B2RNN1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I223S	ENST00000300778.4	37	c.668	CCDS31381.1	11	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633558	0.47049	.	.	ENSG00000167360	ENST00000300778	T	0.00384	7.6	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.01835	0.0058	H	0.97540	4.025	0.44036	D	0.996762	D	0.89917	1.0	D	0.91635	0.999	T	0.07558	-1.0766	10	0.87932	D	0	.	13.8023	0.63208	0.0:0.0:0.0:1.0	.	223	Q8NH59	O51Q1_HUMAN	S	223	ENSP00000300778:I223S	ENSP00000300778:I223S	I	+	2	0	OR51Q1	5400674	1.000000	0.71417	0.055000	0.19348	0.456000	0.32438	4.537000	0.60643	2.133000	0.65898	0.311000	0.20440	ATT	OR51Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000167360		0.493	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	HGNC	protein_coding	OTTHUMT00000143373.1	-	0	52	0	T	NM_001004757		5444098	1	tier1	-	no_errors	ENST00000300778	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.752	G	G	5444098	T	G	5444098	3	3	160	1	0	0	0	0	1	0	0	0	11143	1493	52	4	670	4	OR51Q1	11	5444098	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	227	5444098	129562418	238	40735											
UBQLN3	50613	genome.wustl.edu	37	chr11	5530157	5530157	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcataatttccgggttgttaAgaatatgcccaatctcaggg	11	12	10	8	1	1	1	1	0	1	1	3	1	2	1	2	2	1	3	2	2	5	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:5530157A>C	ENST00000311659.4	-	2	779	c.632T>G	c.(631-633)cTt>cGt	p.L211R	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	211										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)		CGGGTTGTTAAGAATATGCCC	0.527																																					Ovarian(72;684 1260 12332 41642 52180)												0													104	103	104					11																	5530157		2201	4297	6498	SO:0001583	missense	0			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.632T>G	11.37:g.5530157A>C	ENSP00000347997:p.Leu211Arg		Q9NRE0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.L211R	ENST00000311659.4	37	c.632	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936572	0.73442	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.64260	0.49;-0.09	5.68	5.68	0.88126	Heat shock chaperonin-binding (1);	0.000000	0.42682	D	0.000676	D	0.83571	0.5283	M	0.93150	3.385	0.58432	D	0.999997	D	0.76494	0.999	D	0.74674	0.984	D	0.87783	0.2613	10	0.87932	D	0	-34.36	14.1582	0.65430	1.0:0.0:0.0:0.0	.	211	Q9H347	UBQL3_HUMAN	R	211	ENSP00000347997:L211R;ENSP00000412561:L211R	ENSP00000347997:L211R	L	-	2	0	UBQLN3	5486733	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.190000	0.94934	2.288000	0.76882	0.482000	0.46254	CTT	UBQLN3	-	superfamily_ARM-type_fold,smart_STI1_HS-bd	ENSG00000175520		0.527	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	-	0	88	0	A	NM_017481		5530157	-1	tier1	-	no_errors	ENST00000311659	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	C	C	5530157	A	C	5530157	3	2	160	1	0	0	0	0	1	0	0	0	16947	72	3	4	1339	4	UBQLN3	11	5530157	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	86059	5530157	129476359	239	40736											
FAM160A2	84067	genome.wustl.edu	37	chr11	6238867	6238867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctccctcctttggcaccagaCgaaccttcttggccccctca	6	10	6	19	1	2	1	1	0	1	1	4	2	4	1	6	2	1	1	6	2	1	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:6238867C>T	ENST00000449352.2	-	9	2212	c.1949G>A	c.(1948-1950)cGt>cAt	p.R650H	FAM160A2_ENST00000524416.1_Missense_Mutation_p.R650H|FAM160A2_ENST00000265978.4_Missense_Mutation_p.R664H|FAM160A2_ENST00000529360.1_5'Flank			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	650					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						TGGCACCAGACGAACCTTCTT	0.667																																																	0													60	63	62					11																	6238867		2201	4296	6497	SO:0001583	missense	0				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.1949G>A	11.37:g.6238867C>T	ENSP00000416918:p.Arg650His		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.R664H	ENST00000449352.2	37	c.1991	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531253	0.64972	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.65178	-0.14;-0.14;-0.14	5.31	5.31	0.75309	.	0.451136	0.23281	N	0.049918	T	0.67392	0.2888	L	0.43152	1.355	0.33545	D	0.595382	D;B;D	0.76494	0.999;0.241;0.998	P;B;P	0.57101	0.813;0.011;0.784	T	0.74453	-0.3660	10	0.46703	T	0.11	-15.1482	14.3414	0.66630	0.0:1.0:0.0:0.0	.	650;650;664	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	H	650;575;664;650	ENSP00000416918:R650H;ENSP00000265978:R664H;ENSP00000431773:R650H	ENSP00000265978:R664H	R	-	2	0	FAM160A2	6195443	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.909000	0.48758	2.768000	0.95171	0.561000	0.74099	CGT	FAM160A2	-	NULL	ENSG00000051009		0.667	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	-	0	19	0	C	NM_032127		6238867	-1	tier1	-	no_errors	ENST00000265978	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	T	T	6238867	C	T	6238867	3	4	160	1	0	0	0	0	1	0	0	0	5488	536	19	1	985	1	FAM160A2	11	6238867	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	708710	6238867	128767649	240	40737											
SYT9	143425	genome.wustl.edu	37	chr11	7441759	7441759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggtcacaatgagatcatcGgcgtgtgtcaagtaggcaac	12	9	12	8	2	3	1	3	1	0	1	4	2	3	1	0	3	1	2	0	3	5	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:7441759G>A	ENST00000318881.6	+	6	1597	c.1360G>A	c.(1360-1362)Ggc>Agc	p.G454S		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	454	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGAGATCATCGGCGTGTGTCA	0.438																																																	0													174	151	159					11																	7441759		2201	4296	6497	SO:0001583	missense	0			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.1360G>A	11.37:g.7441759G>A	ENSP00000324419:p.Gly454Ser			Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.G454S	ENST00000318881.6	37	c.1360	CCDS7778.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.399916	0.96030	.	.	ENSG00000170743	ENST00000318881	D	0.92446	-3.04	5.64	5.64	0.86602	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000019	D	0.97164	0.9073	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97927	1.0318	10	0.87932	D	0	.	17.1878	0.86871	0.0:0.0:1.0:0.0	.	454	Q86SS6	SYT9_HUMAN	S	454	ENSP00000324419:G454S	ENSP00000324419:G454S	G	+	1	0	SYT9	7398335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.660000	0.90430	0.655000	0.94253	GGC	SYT9	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000170743		0.438	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	-	0	73	0	G	NM_175733		7441759	1	tier1	-	no_errors	ENST00000318881	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	7441759	G	A	7441759	3	1	160	1	0	0	0	0	1	0	0	0	15528	1116	39	1	1382	1	SYT9	11	7441759	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1202892	7441759	127564757	241	40738											
STK33	65975	genome.wustl.edu	37	chr11	8414148	8414148	+	Missense_Mutation	SNP	A	A	G	1	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	gagtcacaggggttttctccAtttctcccttgatttcagct	6	16	8	11	0	4	1	2	1	2	0	6	2	4	1	2	2	1	2	2	2	0	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:8414148A>G	ENST00000447869.1	-	12	2372	c.1454T>C	c.(1453-1455)aTg>aCg	p.M485T	STK33_ENST00000396673.1_Missense_Mutation_p.M419T|STK33_ENST00000534493.1_Missense_Mutation_p.M444T|STK33_ENST00000358872.3_Missense_Mutation_p.M298T|STK33_ENST00000315204.1_Missense_Mutation_p.M485T|STK33_ENST00000396672.1_Missense_Mutation_p.M485T|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	485					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GGTTTTCTCCATTTCTCCCTT	0.453																																																	0													188	177	181					11																	8414148		2201	4296	6497	SO:0001583	missense	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1454T>C	11.37:g.8414148A>G	ENSP00000416750:p.Met485Thr		Q658S6|Q8NEF5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M485T	ENST00000447869.1	37	c.1454	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	A	11.48	1.649967	0.29336	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.70045	-0.38;-0.38;-0.38;-0.45;2.05;2.05;-0.38	6.17	-9.3	0.00649	.	3.840760	0.00447	N	0.000086	T	0.42698	0.1214	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48625	-0.9019	10	0.02654	T	1	.	8.5411	0.33393	0.2547:0.0:0.5073:0.238	.	485	Q9BYT3	STK33_HUMAN	T	485;485;485;298;419;174;444	ENSP00000416750:M485T;ENSP00000320754:M485T;ENSP00000379905:M485T;ENSP00000351743:M298T;ENSP00000379906:M419T;ENSP00000415688:M174T;ENSP00000436418:M444T	ENSP00000320754:M485T	M	-	2	0	STK33	8370724	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.578000	0.05841	-1.771000	0.01293	-1.252000	0.01501	ATG	STK33	-	NULL	ENSG00000130413		0.453	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	-	0	108	0	A	NM_030906		8414148	-1	tier1	-	no_errors	ENST00000315204	ensembl	human	known	74_37	missense	5.08	112	6	SNP	0.000	G	G	8414148	A	G	8414148	3	3	160	1	0	0	0	0	1	0	0	0	15347	217	8	4	94	4	STK33	11	8414148	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	972389	8414148	126592368	242	40739											
ZNF143	7702	genome.wustl.edu	37	chr11	9496117	9496117	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggggacagtttgcgtctaGaggatggtcaagcagtacag	11	8	15	7	1	2	1	1	0	1	1	2	3	2	3	0	4	3	3	0	4	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:9496117G>C	ENST00000396602.2	+	5	429	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	ZNF143_ENST00000396604.1_Missense_Mutation_p.E103Q|ZNF143_ENST00000299606.2_Intron|ZNF143_ENST00000396597.3_Missense_Mutation_p.E73Q|ZNF143_ENST00000530463.1_Missense_Mutation_p.E103Q	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	104					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TTTGCGTCTAGAGGATGGTCA	0.373																																																	0													163	142	149					11																	9496117		2201	4294	6495	SO:0001583	missense	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.310G>C	11.37:g.9496117G>C	ENSP00000379847:p.Glu104Gln		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E104Q	ENST00000396602.2	37	c.310	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	G	30	5.054575	0.93793	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000526657;ENST00000534265;ENST00000412390	T;T;T;T;T;T;T;T;T;T;T	0.55760	0.66;2.69;2.71;2.69;0.69;0.68;2.84;0.57;0.5;0.57;0.68	5.62	5.62	0.85841	.	0.149707	0.45126	D	0.000388	T	0.69097	0.3073	L	0.54323	1.7	0.80722	D	1	D;D;D	0.63880	0.989;0.981;0.993	D;D;D	0.72982	0.979;0.954;0.979	T	0.64219	-0.6459	10	0.33940	T	0.23	.	19.6576	0.95849	0.0:0.0:1.0:0.0	.	73;103;104	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	Q	104;103;104;103;72;103;73;104;104;104;103	ENSP00000434638:E104Q;ENSP00000379849:E103Q;ENSP00000379847:E104Q;ENSP00000432154:E103Q;ENSP00000434922:E72Q;ENSP00000433221:E103Q;ENSP00000379843:E73Q;ENSP00000409432:E104Q;ENSP00000435881:E104Q;ENSP00000433743:E104Q;ENSP00000388628:E103Q	ENSP00000379843:E73Q	E	+	1	0	ZNF143	9452693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.206000	0.95056	2.651000	0.90000	0.650000	0.86243	GAG	ZNF143	-	NULL	ENSG00000166478		0.373	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	-	0	64	0	G	NM_003442		9496117	1	tier1	-	no_errors	ENST00000396602	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	C	C	9496117	G	C	9496117	3	2	160	1	0	0	0	0	1	0	0	0	17780	943	33	5	324	5	ZNF143	11	9496117	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1081969	9496117	125510399	243	40740											
CTR9	9646	genome.wustl.edu	37	chr11	10785713	10785713	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatgttgaagcttggattGaattggcacaaatcttagaa	14	13	10	4	0	1	4	0	3	1	1	1	5	1	5	0	2	1	3	0	2	5	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:10785713G>C	ENST00000361367.2	+	10	1675	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	417					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGCTTGGATTGAATTGGCACA	0.363																																																	0													148	154	152					11																	10785713		2201	4294	6495	SO:0001583	missense	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1249G>C	11.37:g.10785713G>C	ENSP00000355013:p.Glu417Gln		D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E417Q	ENST00000361367.2	37	c.1249	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853906	0.91355	.	.	ENSG00000198730	ENST00000361367	T	0.52295	0.67	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.87547	2.89	0.80722	D	1	D	0.71674	0.998	P	0.62184	0.899	T	0.68534	-0.5383	10	0.27785	T	0.31	-31.7767	20.6593	0.99626	0.0:0.0:1.0:0.0	.	417	Q6PD62	CTR9_HUMAN	Q	417	ENSP00000355013:E417Q	ENSP00000355013:E417Q	E	+	1	0	CTR9	10742289	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.838000	0.99474	2.885000	0.99019	0.655000	0.94253	GAA	CTR9	-	pfscan_TPR-contain_dom	ENSG00000198730		0.363	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	-	0	100	0	G	NM_014633		10785713	1	tier1	-	no_errors	ENST00000361367	ensembl	human	known	74_37	missense	8.93	102	10	SNP	1.000	C	C	10785713	G	C	10785713	3	2	160	1	0	0	0	0	1	0	0	0	4033	1291	45	5	1287	5	CTR9	11	10785713	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1289596	10785713	124220803	244	40741											
MICALCL	84953	genome.wustl.edu	37	chr11	12348776	12348776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagggcttctgagatccaGggtgtgaggctggagaaggc	9	7	18	7	0	1	4	0	2	1	3	2	6	2	4	1	5	0	2	1	5	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:12348776G>T	ENST00000256186.2	+	6	1983	c.1692G>T	c.(1690-1692)caG>caT	p.Q564H		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	564					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)		CTGAGATCCAGGGTGTGAGGC	0.577																																																	0													60	69	66					11																	12348776		2077	4107	6184	SO:0001583	missense	0			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.1692G>T	11.37:g.12348776G>T	ENSP00000256186:p.Gln564His		Q7RTP7|Q96JU6	Missense_Mutation	SNP	pfam_DUF3585,smart_ProQ/FinO	p.Q564H	ENST00000256186.2	37	c.1692	CCDS41620.1	11	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595900	0.66332	.	.	ENSG00000133808	ENST00000256186	T	0.46451	0.87	5.16	2.79	0.32731	Domain of unknown function DUF3585 (1);	0.000000	0.28730	U	0.014322	T	0.53061	0.1773	M	0.67700	2.07	0.26111	N	0.980689	D	0.69078	0.997	D	0.75484	0.986	T	0.40421	-0.9564	10	0.45353	T	0.12	.	2.9703	0.05920	0.2691:0.0:0.4638:0.2671	.	564	Q6ZW33	MICLK_HUMAN	H	564	ENSP00000256186:Q564H	ENSP00000256186:Q564H	Q	+	3	2	MICALCL	12305352	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.766000	0.26560	1.243000	0.43853	0.655000	0.94253	CAG	MICALCL	-	pfam_DUF3585	ENSG00000133808		0.577	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	-	0	113	0	G	NM_032867		12348776	1	tier1	-	no_errors	ENST00000256186	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	12348776	G	T	12348776	3	4	160	1	0	0	0	0	1	0	0	0	9610	991	35	3	1710	3	MICALCL	11	12348776	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1563063	12348776	122657740	245	40742											
WT1	7490	genome.wustl.edu	37	chr11	32456398	32456398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgtgccagtgaactggccgGaaaagtggacagtgaaggcg	11	6	16	8	2	0	2	0	2	0	0	0	4	0	4	2	4	2	0	2	4	4	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:32456398G>A	ENST00000332351.3	-	1	778	c.494C>T	c.(493-495)tCc>tTc	p.S165F	WT1-AS_ENST00000395900.1_RNA|WT1_ENST00000448076.3_Missense_Mutation_p.S165F|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000494911.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	97					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GAACTGGCCGGAAAAGTGGAC	0.682			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	0													17	19	18					11																	32456398		2200	4291	6491	SO:0001583	missense	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.494C>T	11.37:g.32456398G>A	ENSP00000331327:p.Ser165Phe		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour	p.S165F	ENST00000332351.3	37	c.494	CCDS7878.2	11	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554596	0.65425	.	.	ENSG00000184937	ENST00000332351;ENST00000452863;ENST00000448076	D;D;D	0.88975	-2.45;-2.45;-2.45	3.06	2.13	0.27403	Wilm&apos (1);s tumour protein, N-terminal (1);	0.000000	0.64402	U	0.000005	D	0.91050	0.7184	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.72338	0.977;0.977;0.977	D	0.89586	0.3824	10	0.87932	D	0	.	8.4355	0.32784	0.1139:0.0:0.8861:0.0	.	170;97;170	P19544-8;P19544;P19544-7	.;WT1_HUMAN;.	F	165	ENSP00000331327:S165F;ENSP00000415516:S165F;ENSP00000413452:S165F	ENSP00000331327:S165F	S	-	2	0	WT1	32412974	1.000000	0.71417	0.857000	0.33713	0.643000	0.38383	7.224000	0.78042	0.587000	0.29643	0.462000	0.41574	TCC	WT1	-	pfam_Wilms_tumour_N	ENSG00000184937		0.682	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	WT1	HGNC	protein_coding	OTTHUMT00000095436.2	-	0	139	0	G	NM_000378		32456398	-1	tier1	-	no_errors	ENST00000332351	ensembl	human	known	74_37	missense	15.38	66	12	SNP	0.993	A	A	32456398	G	A	32456398	3	1	160	1	0	0	0	0	1	0	0	0	17457	1174	41	3	1099	3	WT1	11	32456398	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	20107622	32456398	102550118	246	40743											
PRDM11	56981	genome.wustl.edu	37	chr11	45246119	45246119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacccagggggagggggactGgaaggtcccccagggggtct	7	4	20	10	0	1	0	0	0	1	0	2	4	2	3	3	8	0	0	3	8	1	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:45246119G>T	ENST00000530656.1	+	7	1196	c.1196G>T	c.(1195-1197)tGg>tTg	p.W399L	PRDM11_ENST00000263765.4_Missense_Mutation_p.W399L|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.W365L|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	399							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GAGGGGGACTGGAAGGTCCCC	0.572																																					NSCLC(118;1511 1736 6472 36603 43224)												0													64	75	71					11																	45246119		2203	4299	6502	SO:0001583	missense	0			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1196G>T	11.37:g.45246119G>T	ENSP00000435976:p.Trp399Leu		Q8N9F1	Missense_Mutation	SNP	pfscan_SET_dom	p.W399L	ENST00000530656.1	37	c.1196		11	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556019	0.86231	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.42131	0.98;0.98;1.06	5.51	5.51	0.81932	.	0.104206	0.44097	D	0.000490	T	0.46833	0.1413	N	0.24115	0.695	0.43628	D	0.996017	D	0.56287	0.975	P	0.54431	0.752	T	0.49495	-0.8934	10	0.72032	D	0.01	-13.4341	19.4918	0.95052	0.0:0.0:1.0:0.0	.	399	Q9NQV5	PRD11_HUMAN	L	399;399;365	ENSP00000263765:W399L;ENSP00000435976:W399L;ENSP00000394314:W365L	ENSP00000263765:W399L	W	+	2	0	PRDM11	45202695	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.220000	0.78008	2.616000	0.88540	0.558000	0.71614	TGG	PRDM11	-	NULL	ENSG00000019485		0.572	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	-	0	101	0	G	NM_020229		45246119	1	tier1	-	no_errors	ENST00000263765	ensembl	human	known	74_37	missense	9.52	76	8	SNP	1.000	T	T	45246119	G	T	45246119	3	4	160	1	0	0	0	0	1	0	0	0	12494	1357	47	3	1222	3	PRDM11	11	45246119	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	12789721	45246119	89760397	247	40744											
FNBP4	23360	genome.wustl.edu	37	chr11	47744591	47744591	+	Silent	SNP	A	A	T	1	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	ttgggagctggtggtggtggAggaggaggaggaggaggtgg	7	7	26	1	0	0	0	0	0	0	0	0	7	0	7	0	12	1	1	0	12	0	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:47744591A>T	ENST00000263773.5	-	15	2754	c.2742T>A	c.(2740-2742)ccT>ccA	p.P914P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						gtggtggtggaggaggaggag	0.463																																																	1	Substitution - coding silent(1)	endometrium(1)											15	15	15					11																	47744591		1997	4159	6156	SO:0001819	synonymous_variant	0			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2742T>A	11.37:g.47744591A>T			Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.P914	ENST00000263773.5	37	c.2742	CCDS41644.1	11																																																																																			FNBP4	-	NULL	ENSG00000109920		0.463	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3		0	54	0	A			47744591	-1			no_errors	ENST00000263773	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.174	T	T	47744591	A	T	47744591	2	4	160	1	0	0	0	0	0	0	0	1	5989	291	11	5		5	FNBP4	11	47744591	Silent	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	2498472	47744591	87261925	248	40745											
OR4A16	81327	genome.wustl.edu	37	chr11	55111564	55111565	+	Frame_Shift_Ins	INS	-	-	A																															cagagatgaaaaatgctatgINSaaaaatctctggtgtgaaaa																										TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:55111564_55111565insA	ENST00000314721.2	+	1	938_939	c.888_889insA	c.(889-891)aaafs	p.K297fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AAAATGCTATGAAAAATCTCTG	0.312																																																	0																																										SO:0001589	frameshift_variant	0			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.893dupA	11.37:g.55111569_55111569dupA	ENSP00000325128:p.Lys297fs		Q6IFL3	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N297fs	ENST00000314721.2	37	c.888_889	CCDS31499.1	11																																																																																			OR4A16	-	NULL	ENSG00000181961		0.312	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1		0	46	0	0	NM_001005274		55111565	1			no_errors	ENST00000314721	ensembl	human	known	74_37	frame_shift_ins	16.33	41	8	INS	0.168:0.033	A	A	55111565	-	A	55111564	7	5	160	1	0	1	1	0	0	0	0	0	11080	1290	45	0	890	0	OR4A16	11	55111564	Frame_Shift_Ins	INS	-	TCGA-V5-AASX-01A-11D-A387-09	7366973	55111564	79894952	249	40746											
OR5M9	390162	genome.wustl.edu	37	chr11	56230592	56230592	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaagtagcactgcaccaAgcatcccacataggaaatgg	17	5	9	10	0	0	0	0	0	0	0	1	2	1	1	2	2	3	4	2	2	6	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:56230592A>C	ENST00000279791.1	-	1	285	c.286T>G	c.(286-288)Ttg>Gtg	p.L96V		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	96						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)					CACTGCACCAAGCATCCCACA	0.488																																																	0													120	114	116					11																	56230592		2201	4296	6497	SO:0001583	missense	0			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.286T>G	11.37:g.56230592A>C	ENSP00000279791:p.Leu96Val		Q6IEW5|Q96RB9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L96V	ENST00000279791.1	37	c.286	CCDS31531.1	11	.	.	.	.	.	.	.	.	.	.	A	0.109	-1.141086	0.01728	.	.	ENSG00000150269	ENST00000279791	T	0.00414	7.52	4.64	-1.28	0.09318	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37304	N	0.002145	T	0.00328	0.0010	L	0.33093	0.98	0.09310	N	1	D	0.54047	0.964	P	0.52343	0.696	T	0.54596	-0.8270	10	0.23891	T	0.37	-19.5881	3.2687	0.06874	0.4104:0.0:0.3212:0.2684	.	96	Q8NGP3	OR5M9_HUMAN	V	96	ENSP00000279791:L96V	ENSP00000279791:L96V	L	-	1	2	OR5M9	55987168	0.000000	0.05858	0.110000	0.21437	0.128000	0.20619	-5.542000	0.00114	-0.077000	0.12752	0.448000	0.29417	TTG	OR5M9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000150269		0.488	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M9	HGNC	protein_coding	OTTHUMT00000391638.1		0	20	0	A	NM_001004743		56230592	-1			no_errors	ENST00000279791	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.041	C	C	56230592	A	C	56230592	3	2	160	1	0	0	0	0	1	0	0	0	11216	69	3	4	648	4	OR5M9	11	56230592	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	1119028	56230592	78775924	250	40747											
WNT11	7481	genome.wustl.edu	37	chr11	75905725	75905725	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgaggagcccgtagctGaggttgtccgcacatcctcc	7	8	11	15	2	0	2	0	2	0	0	3	3	3	3	5	2	2	4	5	2	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:75905725G>T	ENST00000322563.3	-	3	607	c.483C>A	c.(481-483)ctC>ctA	p.L161L	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	161					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCCCGTAGCTGAGGTTGTCCG	0.627																																																	0													48	40	43					11																	75905725		1877	3656	5533	SO:0001819	synonymous_variant	0			Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"Wingless-type MMTV integration sites"	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.483C>A	11.37:g.75905725G>T			B2R8Z6|Q14DE8|Q8WZ98	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.L161	ENST00000322563.3	37	c.483	CCDS8242.1	11																																																																																			WNT11	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000085741		0.627	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT11	HGNC	protein_coding	OTTHUMT00000383083.1	-	0	153	0	G	NM_004626		75905725	-1	tier1	-	no_errors	ENST00000322563	ensembl	human	known	74_37	silent	6.99	133	10	SNP	1.000	T	T	75905725	G	T	75905725	2	4	160	1	0	0	0	0	0	0	0	1	17433	1277	45	3		3	WNT11	11	75905725	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	19675133	75905725	59100791	251	40748											
DLG2	1740	genome.wustl.edu	37	chr11	83676493	83676493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttcgtgtgttacttcttCtaaactgtagttgtttacct	6	20	6	9	1	3	0	0	0	3	0	4	0	3	0	1	0	3	4	1	0	5	9			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:83676493C>T	ENST00000532653.1	-	8	1062	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	DLG2_ENST00000537455.1_Missense_Mutation_p.E8K|DLG2_ENST00000531015.1_Missense_Mutation_p.E221K|DLG2_ENST00000280241.8_Missense_Mutation_p.E293K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.E193K|DLG2_ENST00000543673.1_Missense_Mutation_p.E359K|DLG2_ENST00000524982.1_Missense_Mutation_p.E254K|DLG2_ENST00000376104.2_Missense_Mutation_p.E359K|DLG2_ENST00000418306.2_Missense_Mutation_p.E203K|DLG2_ENST00000398301.2_Missense_Mutation_p.E293K|DLG2_ENST00000398309.2_Missense_Mutation_p.E254K			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	225	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)				GTTACTTCTTCTAAACTGTAG	0.343																																																	0													247	225	232					11																	83676493		1837	4089	5926	SO:0001583	missense	0			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.760G>A	11.37:g.83676493C>T	ENSP00000435849:p.Glu254Lys		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.E359K	ENST00000532653.1	37	c.1075		11	.	.	.	.	.	.	.	.	.	.	C	32	5.157044	0.94686	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T;T	0.54479	1.56;1.56;1.56;1.56;1.56;1.56;0.57;1.56;1.56;1.56;1.56;1.56	5.47	5.47	0.80525	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.71169	0.3308	M	0.64630	1.985	0.80722	D	1	P;D;P;D;P;D;P;B	0.65815	0.627;0.99;0.942;0.991;0.903;0.995;0.603;0.32	P;D;D;D;D;D;P;B	0.81914	0.536;0.956;0.919;0.937;0.952;0.995;0.449;0.401	T	0.69420	-0.5150	9	.	.	.	.	19.3325	0.94297	0.0:1.0:0.0:0.0	.	221;254;254;193;293;359;254;203	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	K	254;359;203;359;293;193;8;254;254;359;221;293;171	ENSP00000381355:E254K;ENSP00000365272:E359K;ENSP00000402275:E203K;ENSP00000441994:E359K;ENSP00000280241:E293K;ENSP00000381353:E193K;ENSP00000443248:E8K;ENSP00000432894:E254K;ENSP00000435849:E254K;ENSP00000433848:E221K;ENSP00000381346:E293K;ENSP00000381344:E171K	.	E	-	1	0	DLG2	83354141	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.558000	0.86282	0.467000	0.42956	GAA	DLG2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000150672		0.343	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0	53	0	C	NM_001364		83676493	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	8.89	82	8	SNP	1.000	T	T	83676493	C	T	83676493	3	4	160	1	0	0	0	0	1	0	0	0	4569	922	32	3	1966	3	DLG2	11	83676493	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	7770768	83676493	51330023	252	40749											
CNTN5	53942	genome.wustl.edu	37	chr11	100126539	100126539	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttgaggaaataaccgaaAgtacggccacactgtcctgg	12	9	11	9	2	0	1	0	1	0	0	1	3	1	2	3	3	2	2	3	3	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:100126539A>C	ENST00000524871.1	+	17	2343	c.2053A>C	c.(2053-2055)Agt>Cgt	p.S685R	CNTN5_ENST00000279463.3_Missense_Mutation_p.S685R|CNTN5_ENST00000528682.1_Missense_Mutation_p.S685R|CNTN5_ENST00000527185.1_Missense_Mutation_p.S685R|CNTN5_ENST00000418526.2_Missense_Mutation_p.S611R|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	685	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)		AATAACCGAAAGTACGGCCAC	0.507																																																	0													104	116	112					11																	100126539		2003	4191	6194	SO:0001583	missense	0			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.2053A>C	11.37:g.100126539A>C	ENSP00000435637:p.Ser685Arg		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S685R	ENST00000524871.1	37	c.2053	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900152	0.33535	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.474485	0.26711	N	0.022890	T	0.48624	0.1510	N	0.13043	0.29	0.36604	D	0.874838	B;B	0.33318	0.178;0.408	B;B	0.40285	0.067;0.325	T	0.61992	-0.6948	10	0.87932	D	0	.	15.1379	0.72583	1.0:0.0:0.0:0.0	.	611;685	O94779-2;O94779	.;CNTN5_HUMAN	R	685;685;685;611;685	ENSP00000433575:S685R;ENSP00000436185:S685R;ENSP00000435637:S685R;ENSP00000393229:S611R;ENSP00000279463:S685R	ENSP00000279463:S685R	S	+	1	0	CNTN5	99631749	0.350000	0.24878	0.991000	0.47740	0.282000	0.26991	4.838000	0.62803	2.174000	0.68829	0.533000	0.62120	AGT	CNTN5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149972		0.507	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0	102	0	A	NM_014361		100126539	1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	9.72	65	7	SNP	0.888	C	C	100126539	A	C	100126539	3	2	160	1	0	0	0	0	1	0	0	0	3651	72	3	4	2111	4	CNTN5	11	100126539	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	16450046	100126539	34879977	253	40750											
TRPC6	7225	genome.wustl.edu	37	chr11	101374960	101374960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaaataatcatgaggcCgttcaatcctagcacccttc	12	10	7	12	1	2	2	2	1	0	1	4	2	3	2	3	1	2	3	3	1	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:101374960C>T	ENST00000344327.3	-	2	1164	c.740G>A	c.(739-741)cGg>cAg	p.R247Q	TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000348423.4_Missense_Mutation_p.R247Q|TRPC6_ENST00000360497.4_Missense_Mutation_p.R247Q|TRPC6_ENST00000532133.1_Missense_Mutation_p.R247Q	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	247					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)		ATCATGAGGCCGTTCAATCCT	0.478																																					Colon(166;1315 1927 11094 12848 34731)												0													122	108	113					11																	101374960		2203	4299	6502	SO:0001583	missense	0			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.740G>A	11.37:g.101374960C>T	ENSP00000340913:p.Arg247Gln		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.R247Q	ENST00000344327.3	37	c.740	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900287	0.72754	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.84	5.84	0.93424	Ankyrin repeat-containing domain (3);	0.159187	0.56097	D	0.000039	T	0.71409	0.3336	L	0.46741	1.465	0.58432	D	0.999996	P;P;B	0.42357	0.468;0.777;0.338	B;B;B	0.43701	0.104;0.428;0.048	T	0.71573	-0.4552	10	0.49607	T	0.09	-14.4187	20.1438	0.98071	0.0:1.0:0.0:0.0	.	247;247;247	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	Q	247	ENSP00000340913:R247Q;ENSP00000435574:R247Q;ENSP00000343672:R247Q;ENSP00000353687:R247Q	ENSP00000340913:R247Q	R	-	2	0	TRPC6	100880170	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.037000	0.70956	2.768000	0.95171	0.650000	0.86243	CGG	TRPC6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000137672		0.478	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	-	0	53	0	C	NM_004621		101374960	-1	tier1	-	no_errors	ENST00000344327	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	101374960	C	T	101374960	3	4	160	1	0	0	0	0	1	0	0	0	16631	652	23	1	2103	1	TRPC6	11	101374960	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1248421	101374960	33631556	254	40751											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103048317	103048317	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagaattgtatgaacagttAtgccagaggatgggagttgt	12	13	13	3	0	0	3	0	1	0	2	0	5	0	5	1	2	2	3	1	2	5	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:103048317A>T	ENST00000375735.2	+	38	6051	c.5907A>T	c.(5905-5907)ttA>ttT	p.L1969F	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L1969F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1969	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGAACAGTTATGCCAGAGGA	0.353																																																	0													93	92	92					11																	103048317		1885	4107	5992	SO:0001583	missense	0			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.5907A>T	11.37:g.103048317A>T	ENSP00000364887:p.Leu1969Phe		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L1969F	ENST00000375735.2	37	c.5907	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550971	0.65311	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.34072	1.38;1.38	5.77	2.16	0.27623	.	.	.	.	.	T	0.58424	0.2121	M	0.88450	2.955	0.45150	D	0.998167	D;D	0.89917	1.0;1.0	D;D	0.80764	0.989;0.994	T	0.54234	-0.8324	9	0.54805	T	0.06	.	4.8714	0.13635	0.5945:0.0:0.278:0.1274	.	1969;1969	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	1969	ENSP00000364887:L1969F;ENSP00000381167:L1969F	ENSP00000364887:L1969F	L	+	3	2	DYNC2H1	102553527	0.888000	0.30383	0.586000	0.28679	0.990000	0.78478	0.669000	0.25142	0.121000	0.18284	0.528000	0.53228	TTA	DYNC2H1	-	superfamily_P-loop_NTPase	ENSG00000187240		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	71	0	A	XM_370652		103048317	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	14.29	90	15	SNP	0.997	T	T	103048317	A	T	103048317	3	4	160	1	0	0	0	0	1	0	0	0	4860	446	16	5	6057	5	DYNC2H1	11	103048317	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	1673357	103048317	31958199	255	40752											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103270418	103270418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctaatacatcagaaagtgCctcctcctaacgatcgacaa	15	8	5	13	2	1	1	1	0	0	1	4	3	3	1	4	0	3	0	4	0	5	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:103270418C>T	ENST00000375735.2	+	84	12328	c.12184C>T	c.(12184-12186)Cct>Tct	p.P4062S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P4069S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4062					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)		TCAGAAAGTGCCTCCTCCTAA	0.338																																																	0													69	64	66					11																	103270418		1860	4094	5954	SO:0001583	missense	0			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.12184C>T	11.37:g.103270418C>T	ENSP00000364887:p.Pro4062Ser		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P4069S	ENST00000375735.2	37	c.12205	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.821668	0.00589	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.08008	3.14;3.14	5.78	1.95	0.26073	Dynein heavy chain (1);	0.720818	0.13895	N	0.355295	T	0.01870	0.0059	N	0.00788	-1.185	0.24788	N	0.992779	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45352	-0.9267	10	0.08179	T	0.78	.	3.0132	0.06051	0.2309:0.0691:0.1222:0.5779	.	4062;4069	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	4062;4069;308	ENSP00000364887:P4062S;ENSP00000381167:P4069S	ENSP00000364887:P4062S	P	+	1	0	DYNC2H1	102775628	0.998000	0.40836	0.966000	0.40874	0.174000	0.22865	0.504000	0.22626	0.438000	0.26450	-0.484000	0.04775	CCT	DYNC2H1	-	pfam_Dynein_heavy_dom	ENSG00000187240		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	39	0	C	XM_370652		103270418	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	5.68	83	5	SNP	0.996	T	T	103270418	C	T	103270418	3	4	160	1	0	0	0	0	1	0	0	0	4860	739	26	3	12543	3	DYNC2H1	11	103270418	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	222101	103270418	31736098	256	40753											
CWF19L2	143884	genome.wustl.edu	37	chr11	107299528	107299528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaatgataaaatacccaGcaaatgtagactttgtatcc	19	10	5	7	0	0	2	0	1	0	1	1	2	1	2	2	0	2	3	2	0	9	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:107299528G>A	ENST00000282251.5	-	8	1457	c.1430C>T	c.(1429-1431)gCt>gTt	p.A477V	CWF19L2_ENST00000433523.1_Missense_Mutation_p.A477V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	477							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)		AAAATACCCAGCAAATGTAGA	0.343																																																	0													128	136	133					11																	107299528		2201	4298	6499	SO:0001583	missense	0			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.1430C>T	11.37:g.107299528G>A	ENSP00000282251:p.Ala477Val		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.A477V	ENST00000282251.5	37	c.1430	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159957	0.38119	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.26373	1.74;1.74	5.42	3.5	0.40072	.	0.673788	0.15339	N	0.267617	T	0.23410	0.0566	M	0.68317	2.08	0.09310	N	0.99999	B	0.29862	0.259	B	0.21360	0.034	T	0.14755	-1.0461	10	0.26408	T	0.33	.	8.1754	0.31278	0.08:0.0:0.7639:0.1562	.	477	Q2TBE0	C19L2_HUMAN	V	477	ENSP00000282251:A477V;ENSP00000387533:A477V	ENSP00000282251:A477V	A	-	2	0	CWF19L2	106804738	0.907000	0.30839	0.038000	0.18304	0.013000	0.08279	5.813000	0.69201	0.717000	0.32145	0.609000	0.83330	GCT	CWF19L2	-	NULL	ENSG00000152404		0.343	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	0	73	0	G	NM_152434		107299528	-1	tier1	-	no_errors	ENST00000282251	ensembl	human	known	74_37	missense	11.46	85	11	SNP	0.319	A	A	107299528	G	A	107299528	3	1	160	1	0	0	0	0	1	0	0	0	4081	971	34	3	1298	3	CWF19L2	11	107299528	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	4029110	107299528	27706988	257	40754											
SIK2	23235	genome.wustl.edu	37	chr11	111594547	111594547	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagccgccaccGccaccaccccctccaccacc	9	1	6	25	2	0	0	0	0	0	0	1	0	1	0	10	0	4	3	10	0	0	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:111594547G>A	ENST00000304987.3	+	15	2648	c.2475G>A	c.(2473-2475)ccG>ccA	p.P825P		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	825			P -> L (in dbSNP:rs55889697). {ECO:0000269|PubMed:17344846}.		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						AGccgccaccgccaccacccc	0.667																																																	0													31	39	36					11																	111594547		2201	4297	6498	SO:0001819	synonymous_variant	0			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.2475G>A	11.37:g.111594547G>A			A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P825	ENST00000304987.3	37	c.2475	CCDS8347.1	11																																																																																			SIK2	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000170145		0.667	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	-	0	35	0	G	NM_015191		111594547	1	tier1	-	no_errors	ENST00000304987	ensembl	human	known	74_37	silent	17.07	33	7	SNP	0.002	A	A	111594547	G	A	111594547	2	1	160	1	0	0	0	0	0	0	0	1	14363	1074	38	1		1	SIK2	11	111594547	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	4295019	111594547	23411969	258	40755											
FDXACB1	91893	genome.wustl.edu	37	chr11	111747584	111747584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cttacagctgaatggatacaCgtcgcttaaaatgagccccc	12	9	8	12	2	0	2	0	2	0	0	1	3	0	3	2	1	4	2	2	1	5	3	rs367952793		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:111747584C>T	ENST00000260257.4	-	3	528	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	ALG9_ENST00000527377.1_5'Flank|FDXACB1_ENST00000542429.1_Missense_Mutation_p.V12M|C11orf1_ENST00000530214.1_5'Flank|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000528125.1_5'Flank|ALG9_ENST00000524880.1_Missense_Mutation_p.V161M	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	161					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						AATGGATACACGTCGCTTAAA	0.512																																																	0								C	MET/VAL	0,3806		0,0,1903	48	47	47		481	4	1	11		47	1,8233		0,1,4116	no	missense	FDXACB1	NM_138378.2	21	0,1,6019	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	161/625	111747584	1,12039	1903	4117	6020	SO:0001583	missense	0				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.481G>A	11.37:g.111747584C>T	ENSP00000260257:p.Val161Met		A0PJW7|B4DUU2	Missense_Mutation	SNP	pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.V161M	ENST00000260257.4	37	c.481	CCDS44729.1	11	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586796	0.46110	0.0	1.21E-4	ENSG00000086848;ENSG00000255561;ENSG00000255561;ENSG00000255561	ENST00000428306;ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.79352	1.52;-1.26;1.52	5.91	4.0	0.46444	Domain of unknown function DUF2431 (1);	0.059471	0.64402	D	0.000003	D	0.84138	0.5406	M	0.74647	2.275	0.54753	D	0.999982	D	0.71674	0.998	P	0.61275	0.886	D	0.85291	0.1067	10	0.87932	D	0	.	9.3921	0.38378	0.0:0.7537:0.1203:0.126	.	161	Q9BRP7	FDXA1_HUMAN	M	161;161;12;72	ENSP00000260257:V161M;ENSP00000441304:V12M;ENSP00000435572:V72M	ENSP00000387627:V161M	V	-	1	0	FDXACB1;ALG9	111252794	0.841000	0.29509	0.981000	0.43875	0.506000	0.33950	1.559000	0.36320	1.473000	0.48159	0.655000	0.94253	GTG	FDXACB1	-	pfam_DUF2431	ENSG00000255561		0.512	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1		0	58	0	C	NM_138378		111747584	-1			no_errors	ENST00000260257	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.917	T	T	111747584	C	T	111747584	3	4	160	1	0	0	0	0	1	0	0	0	5828	536	19	1	1405	1	FDXACB1	11	111747584	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	153037	111747584	23258932	259	40756											
ANKK1	255239	genome.wustl.edu	37	chr11	113270849	113270849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggcgcccagctggacGtccaggatggagtgagctgc	8	5	17	11	2	0	1	0	1	0	0	1	4	1	4	2	5	3	3	2	5	0	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:113270849G>A	ENST00000303941.3	+	8	2252	c.2158G>A	c.(2158-2160)Gtc>Atc	p.V720I		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	720							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)		CCAGCTGGACGTCCAGGATGG	0.662																																																	0													17	21	20					11																	113270849		2073	4205	6278	SO:0001583	missense	0			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.2158G>A	11.37:g.113270849G>A	ENSP00000306678:p.Val720Ile			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.V720I	ENST00000303941.3	37	c.2158	CCDS44734.1	11	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.855747	0.00558	.	.	ENSG00000170209	ENST00000303941	T	0.63417	-0.04	4.53	-3.59	0.04583	Ankyrin repeat-containing domain (3);	1.132580	0.06889	N	0.803934	T	0.44540	0.1298	N	0.17800	0.525	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26258	-1.0108	10	0.26408	T	0.33	-2.8832	12.1132	0.53850	0.5748:0.0:0.4252:0.0	.	720	Q8NFD2	ANKK1_HUMAN	I	720	ENSP00000306678:V720I	ENSP00000306678:V720I	V	+	1	0	ANKK1	112776059	0.023000	0.18921	0.000000	0.03702	0.005000	0.04900	0.923000	0.28757	-0.980000	0.03524	-1.218000	0.01608	GTC	ANKK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000170209		0.662	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	HGNC	protein_coding	OTTHUMT00000395830.1	-	0	117	0	G	NM_178510		113270849	1	tier1	-	no_errors	ENST00000303941	ensembl	human	known	74_37	missense	6.48	101	7	SNP	0.001	A	A	113270849	G	A	113270849	3	1	160	1	0	0	0	0	1	0	0	0	631	1145	40	1	2188	1	ANKK1	11	113270849	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1523265	113270849	21735667	260	40757											
HYOU1	10525	genome.wustl.edu	37	chr11	118917347	118917347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgcccgggtcccattCttgtccttaggccggggccg	2	10	14	15	3	2	0	0	0	2	0	4	0	4	0	5	5	1	1	5	5	1	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:118917347C>A	ENST00000404233.3	-	23	2887	c.2763G>T	c.(2761-2763)aaG>aaT	p.K921N	HYOU1_ENST00000529972.1_Missense_Mutation_p.K859N|HYOU1_ENST00000525859.1_Missense_Mutation_p.K859N|RP11-110I1.6_ENST00000531886.1_RNA	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	921					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGGTCCCATTCTTGTCCTTAG	0.577																																																	0													111	113	113					11																	118917347		2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2763G>T	11.37:g.118917347C>A	ENSP00000384144:p.Lys921Asn		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.K921N	ENST00000404233.3	37	c.2763	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567300	0.28003	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01599	4.75;4.74;4.74	6.04	6.04	0.98038	.	0.045642	0.85682	D	0.000000	T	0.02929	0.0087	L	0.40543	1.245	0.80722	D	1	P;P;B;B	0.52577	0.954;0.501;0.408;0.408	P;B;B;B	0.45377	0.478;0.157;0.062;0.062	T	0.66444	-0.5922	10	0.27785	T	0.31	-41.9428	15.3129	0.74048	0.1398:0.8602:0.0:0.0	.	912;903;921;921	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	N	921;912;859;770;859;902	ENSP00000384144:K921N;ENSP00000437313:K859N;ENSP00000433397:K859N	ENSP00000278752:K912N	K	-	3	2	HYOU1	118422557	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	4.105000	0.57797	2.873000	0.98535	0.561000	0.74099	AAG	HYOU1	-	NULL	ENSG00000149428		0.577	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1		0	80	0	C	NM_006389		118917347	-1			no_errors	ENST00000404233	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	A	A	118917347	C	A	118917347	3	1	160	1	0	0	0	0	1	0	0	0	7497	912	32	3	252	3	HYOU1	11	118917347	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	5646498	118917347	16089169	261	40758											
USP2	9099	genome.wustl.edu	37	chr11	119228536	119228536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgttttctgcctcggcagcGacagcatgtctgagagacaa	9	9	11	12	3	2	2	0	1	2	1	3	4	2	2	2	1	3	3	2	1	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:119228536G>A	ENST00000260187.2	-	10	1726	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	USP2_ENST00000525735.1_Missense_Mutation_p.R269C|USP2_ENST00000455332.2_Missense_Mutation_p.R235C	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	478	Necessary for interaction with MDM4.|USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CCTCGGCAGCGACAGCATGTC	0.507																																																	0													201	215	210					11																	119228536		2199	4295	6494	SO:0001583	missense	0			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1432C>T	11.37:g.119228536G>A	ENSP00000260187:p.Arg478Cys		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R478C	ENST00000260187.2	37	c.1432	CCDS8422.1	11	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492207	0.64074	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.03035	4.07;4.07;4.07	5.75	5.75	0.90469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.102877	0.64402	D	0.000005	T	0.17323	0.0416	M	0.86343	2.81	0.80722	D	1	B;B;D	0.76494	0.041;0.038;0.999	B;B;P	0.57244	0.057;0.027;0.816	T	0.00077	-1.2116	10	0.87932	D	0	-5.8885	13.8526	0.63506	0.0:0.0:0.8476:0.1524	.	235;478;269	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	C	235;478;225;269	ENSP00000407842:R235C;ENSP00000260187:R478C;ENSP00000436952:R269C	ENSP00000260187:R478C	R	-	1	0	USP2	118733746	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.599000	0.61076	2.725000	0.93324	0.655000	0.94253	CGC	USP2	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000036672		0.507	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP2	HGNC	protein_coding	OTTHUMT00000388361.2	-	0	37	0	G	NM_171997		119228536	-1	tier1	-	no_errors	ENST00000260187	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	A	A	119228536	G	A	119228536	3	1	160	1	0	0	0	0	1	0	0	0	17100	1058	37	1	401	1	USP2	11	119228536	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	311189	119228536	15777980	262	40759											
GRIK4	2900	genome.wustl.edu	37	chr11	120531108	120531108	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccgcactccttgaggatCggtaagtgtggcccagcttg	7	9	13	12	2	0	1	0	1	0	0	2	2	1	2	3	3	2	3	3	3	1	3	rs142046109		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:120531108C>T	ENST00000527524.2	+	3	368	c.81C>T	c.(79-81)atC>atT	p.I27I	GRIK4_ENST00000438375.2_Splice_Site_p.I27I	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	27					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CCTTGAGGATCGGTAAGTGTG	0.622											OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C		0,4406		0,0,2203	52	44	47		81	-6.3	0.9	11	dbSNP_134	47	1,8597	1.2+/-3.3	0,1,4298	yes	coding-synonymous-near-splice	GRIK4	NM_014619.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		27/957	120531108	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.82+1C>T	11.37:g.120531108C>T		1504	A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I27	ENST00000527524.2	37	c.81	CCDS8433.1	11																																																																																			GRIK4	-	superfamily_Peripla_BP_I	ENSG00000149403		0.622	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4		0	58	0	C	NM_014619	Silent	120531108	1			no_errors	ENST00000527524	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.494	T	T	120531108	C	T	120531108	5	4	160	1	0	0	0	0	0	0	1	0	6803	898	31	1	83	1	GRIK4	11	120531108	Splice_Site	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1302572	120531108	14475408	263	40760											
ERC1	23085	genome.wustl.edu	37	chr12	1399080	1399080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagaatccatgaaagcaaaGctgtcctccacccagcagtc	13	7	7	14	0	0	2	0	1	0	1	4	2	3	2	4	0	3	3	4	0	4	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:1399080G>T	ENST00000397203.2	+	15	3088	c.2682G>T	c.(2680-2682)aaG>aaT	p.K894N	ERC1_ENST00000546231.2_Missense_Mutation_p.K898N|ERC1_ENST00000355446.5_Missense_Mutation_p.K894N|ERC1_ENST00000360905.4_Missense_Mutation_p.K894N|ERC1_ENST00000589028.1_Missense_Mutation_p.K894N|ERC1_ENST00000543086.3_Missense_Mutation_p.K866N			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	894					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)			TGAAAGCAAAGCTGTCCTCCA	0.448																																																	0													128	113	118					12																	1399080		2203	4300	6503	SO:0001583	missense	0			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.2682G>T	12.37:g.1399080G>T	ENSP00000380386:p.Lys894Asn		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.K894N	ENST00000397203.2	37	c.2682	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849145	0.71603	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.67	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.39633	1.23	0.58432	D	0.999992	P;D;D;D	0.89917	0.906;1.0;1.0;0.974	P;D;D;P	0.85130	0.71;0.997;0.997;0.828	T	0.38824	-0.9643	10	0.23891	T	0.37	-32.3979	9.9843	0.41832	0.3583:0.0:0.6417:0.0	.	602;870;866;894	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	N	826;894;870;826;598;866;870;598;894;894;894;870;602	ENSP00000340054:K826N;ENSP00000380386:K894N;ENSP00000438546:K866N;ENSP00000442976:K598N;ENSP00000347621:K894N;ENSP00000354158:K894N;ENSP00000410064:K870N	ENSP00000299183:K598N	K	+	3	2	ERC1	1269341	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	1.094000	0.30951	0.072000	0.16694	-0.140000	0.14226	AAG	ERC1	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000082805		0.448	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	-	0	65	0	G	NM_015064		1399080	1	tier1	-	no_errors	ENST00000360905	ensembl	human	known	74_37	missense	13.64	76	12	SNP	1.000	T	T	1399080	G	T	1399080	3	4	160	1	0	0	0	0	1	0	0	0	5226	962	34	3	2736	3	ERC1	12	1399080	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09		1399080	132452815	264	40761											
CACNA2D4	93589	genome.wustl.edu	37	chr12	1995136	1995136	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgtggacactcacctctcGattgtctcggtccgcctgga	6	10	10	15	4	3	0	1	0	2	0	6	3	4	2	4	3	0	0	4	3	0	1	rs369451253		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:1995136G>A	ENST00000382722.5	-	9	1425	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.R291*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.R271*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.R355*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.R355*|CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.R291*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	355	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)		CTCACCTCTCGATTGTCTCGG	0.547																																					Colon(2;101 179 21030 23310 28141)												0								G	stop/ARG	0,4046		0,0,2023	57	62	60		1063	4.2	1	12		60	1,8359		0,1,4179	no	stop-gained	CACNA2D4	NM_172364.4		0,1,6202	AA,AG,GG		0.012,0.0,0.0081		355/1138	1995136	1,12405	2023	4180	6203	SO:0001587	stop_gained	0			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.1063C>T	12.37:g.1995136G>A	ENSP00000372169:p.Arg355*		Q7Z3S8|Q86XZ5|Q8IZS9	Nonsense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R355*	ENST00000382722.5	37	c.1063	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	G	40	7.955971	0.98580	0.0	1.2E-4	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	.	.	.	5.07	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	12.2607	0.54649	0.0:0.0:0.5295:0.4705	.	.	.	.	X	291;355;355	.	ENSP00000280663:R355X	R	-	1	2	CACNA2D4	1865397	1.000000	0.71417	0.991000	0.47740	0.889000	0.51656	1.477000	0.35431	1.120000	0.41904	0.462000	0.41574	CGA	CACNA2D4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000151062		0.547	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	-	0	29	0	G			1995136	-1	tier1	-	no_errors	ENST00000382722	ensembl	human	known	74_37	nonsense	18.00	41	9	SNP	1.000	A	A	1995136	G	A	1995136	4	1	160	1	0	0	0	0	0	1	0	0	2558	1066	37	1	2470	1	CACNA2D4	12	1995136	Nonsense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	596056	1995136	131856759	265	40762											
KCNA6	3742	genome.wustl.edu	37	chr12	4919722	4919722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacccagagagctctgggcCggccaggggcatcgccatcg	7	5	15	14	3	1	1	0	0	1	1	3	2	1	1	4	4	2	3	4	4	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:4919722C>T	ENST00000280684.3	+	1	1381	c.515C>T	c.(514-516)cCg>cTg	p.P172L	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.P172L			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	172					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)	AGCTCTGGGCCGGCCAGGGGC	0.617										HNSCC(72;0.22)																																							0													45	44	44					12																	4919722		2203	4300	6503	SO:0001583	missense	0			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.515C>T	12.37:g.4919722C>T	ENSP00000280684:p.Pro172Leu			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.P172L	ENST00000280684.3	37	c.515	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972656	0.53614	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.68331	-0.32;-0.32	4.99	4.99	0.66335	.	0.115857	0.64402	D	0.000013	T	0.55401	0.1918	L	0.31420	0.93	0.80722	D	1	B	0.29301	0.241	B	0.19946	0.027	T	0.56300	-0.8002	10	0.48119	T	0.1	.	17.4425	0.87568	0.0:1.0:0.0:0.0	.	172	P17658	KCNA6_HUMAN	L	172	ENSP00000408321:P172L;ENSP00000280684:P172L	ENSP00000280684:P172L	P	+	2	0	KCNA6	4789983	1.000000	0.71417	0.906000	0.35671	0.904000	0.53231	7.646000	0.83445	2.595000	0.87683	0.563000	0.77884	CCG	KCNA6	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv1	ENSG00000151079		0.617	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	-	0	63	0	C	NM_002235		4919722	1	tier1	-	no_errors	ENST00000280684	ensembl	human	known	74_37	missense	15.25	50	9	SNP	0.994	T	T	4919722	C	T	4919722	3	4	160	1	0	0	0	0	1	0	0	0	8034	652	23	1	517	1	KCNA6	12	4919722	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	2924586	4919722	128932173	266	40763											
KCNA6	3742	genome.wustl.edu	37	chr12	4920698	4920698	+	Silent	SNP	C	C	T	0	0	0	1	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	gcaactgacaacggacttggCaagcctgacttccccgaggc	10	6	11	14	2	0	2	0	2	0	0	1	4	1	3	3	3	3	2	3	3	3	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:4920698C>T	ENST00000280684.3	+	1	2357	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.G497G			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	497					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)	ACGGACTTGGCAAGCCTGACT	0.602										HNSCC(72;0.22)																																							0													87	88	88					12																	4920698		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1491C>T	12.37:g.4920698C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G497	ENST00000280684.3	37	c.1491	CCDS8534.1	12																																																																																			KCNA6	-	NULL	ENSG00000151079		0.602	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	-	0	41	0	C	NM_002235		4920698	1	tier1	-	no_errors	ENST00000280684	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.997	T	T	4920698	C	T	4920698	2	4	160	1	0	0	0	0	0	0	0	1	8034	697	25	3		3	KCNA6	12	4920698	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	976	4920698	128931197	267	40764											
VWF	7450	genome.wustl.edu	37	chr12	6155919	6155919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggggactgctgaggacagCgtcaggcagcaagcttccgg	9	5	16	11	2	1	1	1	1	0	0	2	3	2	3	1	5	4	4	1	5	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:6155919C>T	ENST00000261405.5	-	17	2505	c.2251G>A	c.(2251-2253)Gct>Act	p.A751T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	751					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)	CTGAGGACAGCGTCAGGCAGC	0.567																																																	0													146	117	127					12																	6155919		2203	4300	6503	SO:0001583	missense	0				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.2251G>A	12.37:g.6155919C>T	ENSP00000261405:p.Ala751Thr		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.A751T	ENST00000261405.5	37	c.2251	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	0.245	-1.010940	0.02095	.	.	ENSG00000110799	ENST00000261405	T	0.35421	1.31	3.46	-6.92	0.01644	.	2.308370	0.02467	N	0.087131	T	0.15912	0.0383	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.16689	-1.0394	10	0.12766	T	0.61	.	3.9929	0.09545	0.2102:0.561:0.1059:0.1229	.	751	P04275	VWF_HUMAN	T	751	ENSP00000261405:A751T	ENSP00000261405:A751T	A	-	1	0	VWF	6026180	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-3.474000	0.00458	-2.294000	0.00663	-0.339000	0.08088	GCT	VWF	-	pirsf_VWF	ENSG00000110799		0.567	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0	29	0	C	NM_000552		6155919	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	T	T	6155919	C	T	6155919	3	4	160	1	0	0	0	0	1	0	0	0	17295	768	27	1	6334	1	VWF	12	6155919	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1235221	6155919	127695976	268	40765											
GAPDH	2597	genome.wustl.edu	37	chr12	6645892	6645892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacccatggcaaattccatGgcaccgtcaaggctgagaac	12	6	9	14	1	1	1	1	1	0	1	2	2	2	1	4	3	1	3	4	3	3	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:6645892G>A	ENST00000229239.5	+	4	838	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	GAPDH_ENST00000396859.1_Missense_Mutation_p.G58S|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396861.1_Missense_Mutation_p.G58S|GAPDH_ENST00000396858.1_Missense_Mutation_p.G16S|GAPDH_ENST00000396856.1_5'UTR	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	58	Interaction with WARS.				carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CAAATTCCATGGCACCGTCAA	0.512																																																	0													118	110	113					12																	6645892		2203	4300	6503	SO:0001583	missense	0			AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.172G>A	12.37:g.6645892G>A	ENSP00000229239:p.Gly58Ser		E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.G58S	ENST00000229239.5	37	c.172	CCDS8549.1	12	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619816	0.87460	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.36	5.36	0.76844	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.062472	0.64402	D	0.000004	T	0.56673	0.2001	M	0.82630	2.6	0.80722	D	1	B	0.27951	0.195	B	0.28784	0.094	T	0.61197	-0.7111	10	0.66056	D	0.02	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	58	P04406	G3P_HUMAN	S	58;58;58;58;16	ENSP00000229239:G58S;ENSP00000380070:G58S;ENSP00000380068:G58S;ENSP00000380067:G16S	ENSP00000229239:G58S	G	+	1	0	GAPDH	6516153	1.000000	0.71417	0.940000	0.37924	0.740000	0.42216	9.697000	0.98697	2.509000	0.84616	0.561000	0.74099	GGC	GAPDH	-	pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	ENSG00000111640		0.512	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDH	HGNC	protein_coding	OTTHUMT00000268059.1		0	23	0	G	NM_002046		6645892	1			no_errors	ENST00000229239	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	A	A	6645892	G	A	6645892	3	1	160	1	0	0	0	0	1	0	0	0	6261	1348	47	3	182	3	GAPDH	12	6645892	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	489973	6645892	127206003	269	40766											
ENO2	2026	genome.wustl.edu	37	chr12	7026211	7026211	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tctgccctcagggtctctctGtggtggagcaagagaaactg	8	10	13	10	0	4	1	1	0	3	1	5	3	4	2	1	3	3	1	1	3	2	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:7026211G>A	ENST00000535366.1	+	4	876	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	ENO2_ENST00000229277.1_Missense_Mutation_p.V84M|ENO2_ENST00000538763.1_Intron|ENO2_ENST00000541477.1_Missense_Mutation_p.V84M|ENO2_ENST00000545045.2_Missense_Mutation_p.V84M|ENO2_ENST00000544774.1_Intron			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	84					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGGTCTCTCTGTGGTGGAGCA	0.597																																																	0													101	100	100					12																	7026211		2203	4300	6503	SO:0001583	missense	0			M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.250G>A	12.37:g.7026211G>A	ENSP00000437402:p.Val84Met		B7Z2X9|Q96J33	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.V84M	ENST00000535366.1	37	c.250	CCDS8570.1	12	.	.	.	.	.	.	.	.	.	.	g	24.7	4.556026	0.86231	.	.	ENSG00000111674	ENST00000537688;ENST00000540580;ENST00000541477;ENST00000229277;ENST00000539713;ENST00000535366;ENST00000545045;ENST00000544430	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.16	4.23	0.50019	Enolase, N-terminal (1);	0.058851	0.64402	D	0.000002	T	0.64972	0.2647	H	0.97158	3.95	0.80722	D	1	P	0.37781	0.608	P	0.48400	0.576	T	0.74954	-0.3488	10	0.72032	D	0.01	-20.2648	13.8506	0.63494	0.0:0.0:0.8455:0.1544	.	84	P09104	ENOG_HUMAN	M	84	ENSP00000445788:V84M;ENSP00000443117:V84M;ENSP00000438873:V84M;ENSP00000229277:V84M;ENSP00000441740:V84M;ENSP00000437402:V84M;ENSP00000438062:V84M	ENSP00000229277:V84M	V	+	1	0	ENO2	6896472	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	9.866000	0.99616	1.235000	0.43724	0.556000	0.70494	GTG	ENO2	-	pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase	ENSG00000111674		0.597	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO2	HGNC	protein_coding	OTTHUMT00000401786.1	-	0	54	0	G			7026211	1	tier1	-	no_errors	ENST00000229277	ensembl	human	known	74_37	missense	9.33	68	7	SNP	0.998	A	A	7026211	G	A	7026211	3	1	160	1	0	0	0	0	1	0	0	0	5138	1377	48	3	264	3	ENO2	12	7026211	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	380319	7026211	126825684	270	40767											
SLCO1B1	10599	genome.wustl.edu	37	chr12	21355473	21355473	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaatgtttttaggaggatAtatcattaaaaaattcaaac	17	14	7	3	0	2	0	2	0	0	0	2	3	2	3	0	3	1	1	0	3	8	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:21355473A>T	ENST00000256958.2	+	10	1280	c.1184A>T	c.(1183-1185)tAt>tTt	p.Y395F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	395					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTAGGAGGATATATCATTAAA	0.289																																																	0													62	61	61					12																	21355473		2203	4297	6500	SO:0001583	missense	0				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1184A>T	12.37:g.21355473A>T	ENSP00000256958:p.Tyr395Phe		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.Y395F	ENST00000256958.2	37	c.1184	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	A	7.392	0.630930	0.14322	.	.	ENSG00000134538	ENST00000256958	T	0.58358	0.34	3.07	0.381	0.16228	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.474372	0.21520	N	0.073231	T	0.31857	0.0810	N	0.21448	0.665	0.19300	N	0.999979	B	0.11235	0.004	B	0.13407	0.009	T	0.13791	-1.0496	10	0.27785	T	0.31	.	6.7274	0.23365	0.4147:0.0:0.0:0.5853	.	395	Q9Y6L6	SO1B1_HUMAN	F	395	ENSP00000256958:Y395F	ENSP00000256958:Y395F	Y	+	2	0	SLCO1B1	21246740	0.042000	0.20092	0.486000	0.27416	0.250000	0.25880	1.501000	0.35693	-0.042000	0.13535	0.254000	0.18369	TAT	SLCO1B1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000134538		0.289	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	-	0	51	0	A	NM_006446		21355473	1	tier1	-	no_errors	ENST00000256958	ensembl	human	known	74_37	missense	16.07	47	9	SNP	0.375	T	T	21355473	A	T	21355473	3	4	160	1	0	0	0	0	1	0	0	0	14768	449	16	5	1218	5	SLCO1B1	12	21355473	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	14329262	21355473	112496422	271	40768											
CAPRIN2	65981	genome.wustl.edu	37	chr12	30906600	30906600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactagagggacacagccagGcaataacttccctggaaagt	14	6	11	10	0	0	1	0	0	0	1	1	4	1	3	2	3	2	1	2	3	4	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:30906600G>A	ENST00000395805.2	-	1	645	c.98C>T	c.(97-99)gCc>gTc	p.A33V	RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.A33V|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A33V|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A33V|CAPRIN2_ENST00000308433.5_5'UTR	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACACAGCCAGGCAATAACTTC	0.443											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90	91	91					12																	30906600		2203	4300	6503	SO:0001583	missense	0			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.98C>T	12.37:g.30906600G>A	ENSP00000379150:p.Ala33Val	820		Missense_Mutation	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.A33V	ENST00000395805.2	37	c.98	CCDS55816.1	12	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043102	0.36085	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045	T;T;T;T	0.72394	-0.65;2.81;-0.63;2.81	4.46	1.37	0.22104	.	2.799630	0.01729	N	0.028777	T	0.49881	0.1583	N	0.08118	0	0.18873	N	0.999985	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.06405	0.001;0.002;0.001;0.002	T	0.37549	-0.9701	9	.	.	.	0.68	5.4954	0.16799	0.3715:0.0:0.6285:0.0	.	33;33;33;33	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	V	33	ENSP00000298892:A33V;ENSP00000379150:A33V;ENSP00000251071:A33V;ENSP00000391479:A33V	.	A	-	2	0	CAPRIN2	30797867	0.000000	0.05858	0.000000	0.03702	0.793000	0.44817	0.286000	0.18902	0.514000	0.28300	0.655000	0.94253	GCC	CAPRIN2	-	NULL	ENSG00000110888		0.443	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	-	0	50	0	G	NM_023925		30906600	-1	tier1	-	no_errors	ENST00000251071	ensembl	human	known	74_37	missense	46.81	25	22	SNP	0.000	A	A	30906600	G	A	30906600	3	1	160	1	0	0	0	0	1	0	0	0	2643	1203	42	3	3357	3	CAPRIN2	12	30906600	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	9551127	30906600	102945295	272	40769											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43826214	43826214	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagcaagacgatggccaaAgttattcatacaataagatt	16	10	8	7	1	2	2	2	0	0	2	2	3	2	2	1	1	2	2	1	1	6	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:43826214A>G	ENST00000389420.3	-	21	2988	c.2989T>C	c.(2989-2991)Ttt>Ctt	p.F997L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F997L|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.F151L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	997	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGATGGCCAAAGTTATTCATA	0.413																																																	0													119	118	118					12																	43826214		2203	4300	6503	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2989T>C	12.37:g.43826214A>G	ENSP00000374071:p.Phe997Leu		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.F997L	ENST00000389420.3	37	c.2989	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	A	9.249	1.040250	0.19669	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	4.89	2.52	0.30459	.	0.350050	0.23589	N	0.046566	T	0.24198	0.0586	N	0.01729	-0.75	0.26349	N	0.97723	B;B	0.12013	0.001;0.005	B;B	0.14023	0.006;0.01	T	0.21280	-1.0250	10	0.10377	T	0.69	.	7.6168	0.28163	0.7816:0.1432:0.0752:0.0	.	997;151	P59510;E9PBD5	ATS20_HUMAN;.	L	997;163;151;997;997	ENSP00000374071:F997L;ENSP00000447427:F163L;ENSP00000378911:F151L;ENSP00000448341:F997L	ENSP00000374068:F997L	F	-	1	0	ADAMTS20	42112481	1.000000	0.71417	0.893000	0.35052	0.940000	0.58332	1.974000	0.40559	0.912000	0.36772	0.533000	0.62120	TTT	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000173157		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	-	0	40	0	A	NM_025003		43826214	-1	tier1	-	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	G	G	43826214	A	G	43826214	3	3	160	1	0	0	0	0	1	0	0	0	266	72	3	4	2818	4	ADAMTS20	12	43826214	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	12919614	43826214	90025681	273	40770											
RAPGEF3	10411	genome.wustl.edu	37	chr12	48143256	48143256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgatggtggctgcccgggGtgcatcattcaccagagcca	8	8	14	11	1	2	2	2	1	0	1	2	3	2	2	3	4	3	2	3	4	0	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:48143256G>A	ENST00000449771.2	-	10	1046	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.P278S|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.P278S|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.P278S|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.P320S|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.P320S|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.P278S			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	320					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCTGCCCGGGGTGCATCATTC	0.597																																																	0													98	86	90					12																	48143256		2203	4300	6503	SO:0001583	missense	0			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.958C>T	12.37:g.48143256G>A	ENSP00000395708:p.Pro320Ser		A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.P320S	ENST00000449771.2	37	c.958	CCDS41775.1	12	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646022	0.87958	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	D;D;D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37	4.28	4.28	0.50868	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.97281	0.9111	M	0.93763	3.455	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.99	D;P;P	0.67231	0.95;0.692;0.636	D	0.98198	1.0466	10	0.72032	D	0.01	.	15.8465	0.78895	0.0:0.0:1.0:0.0	.	332;320;320	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	S	278;320;278;278;278;320;332;278;320	ENSP00000384521:P278S;ENSP00000395708:P320S;ENSP00000448619:P278S;ENSP00000171000:P278S;ENSP00000373864:P320S;ENSP00000448480:P278S;ENSP00000378764:P320S	ENSP00000171000:P278S	P	-	1	0	RAPGEF3	46429523	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	9.067000	0.93955	2.396000	0.81511	0.650000	0.86243	CCC	RAPGEF3	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	ENSG00000079337		0.597	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	HGNC	protein_coding	OTTHUMT00000257848.1	-	0	78	0	G	NM_006105		48143256	-1	tier1	-	no_errors	ENST00000389212	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A	A	48143256	G	A	48143256	3	1	160	1	0	0	0	0	1	0	0	0	13090	1261	44	3	1889	3	RAPGEF3	12	48143256	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	4317042	48143256	85708639	274	40771											
ACVRL1	94	genome.wustl.edu	37	chr12	52306268	52306268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagggaccatgaccttgGgctcccccaggaaaggcctt	8	7	12	14	0	0	1	0	1	0	0	1	3	1	3	5	4	1	2	5	4	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:52306268G>T	ENST00000388922.4	+	2	293	c.10G>T	c.(10-12)Ggc>Tgc	p.G4C	ACVRL1_ENST00000419526.2_Missense_Mutation_p.G18C|ACVRL1_ENST00000550683.1_Missense_Mutation_p.G18C	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	4					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)	CATGACCTTGGGCTCCCCCAG	0.582																																																	0													69	58	61					12																	52306268		2203	4300	6503	SO:0001583	missense	0			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.10G>T	12.37:g.52306268G>T	ENSP00000373574:p.Gly4Cys		A6NGA8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.G18C	ENST00000388922.4	37	c.52	CCDS31804.1	12	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145305	0.37825	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D;D	0.92545	-2.03;-3.06;-2.07;-2.19	5.28	2.41	0.29592	.	0.590250	0.14171	N	0.336719	T	0.81903	0.4921	N	0.08118	0	0.19300	N	0.999976	P;B	0.36086	0.536;0.39	B;B	0.36418	0.045;0.224	T	0.74665	-0.3589	10	0.72032	D	0.01	.	7.7188	0.28721	0.2673:0.0:0.7327:0.0	.	18;4	E7EN07;P37023	.;ACVL1_HUMAN	C	4;4;18;18;18;18	ENSP00000373574:G4C;ENSP00000446724:G18C;ENSP00000447884:G18C;ENSP00000392492:G18C	ENSP00000267008:G4C	G	+	1	0	ACVRL1	50592535	0.001000	0.12720	0.895000	0.35142	0.534000	0.34807	0.497000	0.22514	0.791000	0.33826	0.655000	0.94253	GGC	ACVRL1	-	NULL	ENSG00000139567		0.582	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVRL1	HGNC	protein_coding	OTTHUMT00000404520.2	-	0	50	0	G			52306268	1	tier1	-	no_errors	ENST00000550683	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.620	T	T	52306268	G	T	52306268	3	4	160	1	0	0	0	0	1	0	0	0	225	1232	43	3	12	3	ACVRL1	12	52306268	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	4163012	52306268	81545627	275	40772											
NAP1L1	4673	genome.wustl.edu	37	chr12	76448798	76448798	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatatttcaaagttcttttaCcataggctggccagcatctg	11	14	7	9	0	3	0	1	0	2	0	3	0	3	0	2	2	2	3	2	2	5	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:76448798C>T	ENST00000261182.8	-	8	1117		c.e8+1		NAP1L1_ENST00000549596.1_Splice_Site|NAP1L1_ENST00000535020.2_Splice_Site|NAP1L1_ENST00000431879.3_Splice_Site|NAP1L1_ENST00000547773.1_Splice_Site|NAP1L1_ENST00000547993.1_Splice_Site|NAP1L1_ENST00000548044.1_Splice_Site|NAP1L1_ENST00000542344.1_Splice_Site|NAP1L1_ENST00000393263.3_Splice_Site|NAP1L1_ENST00000552342.1_Splice_Site|NAP1L1_ENST00000544816.1_Splice_Site	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1						DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AGTTCTTTTACCATAGGCTGG	0.303																																																	0													53	54	54					12																	76448798		2202	4297	6499	SO:0001630	splice_region_variant	0				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.630+1G>A	12.37:g.76448798C>T			B3KNT8	Splice_Site	SNP	-	e7+1	ENST00000261182.8	37	c.630+1	CCDS9013.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231901	0.79688	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044;ENST00000550934;ENST00000551992;ENST00000548273	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2054	0.93728	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAP1L1	74735065	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.776000	0.85560	2.634000	0.89283	0.650000	0.86243	.	NAP1L1	-	-	ENSG00000187109		0.303	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L1	HGNC	protein_coding	OTTHUMT00000405850.3	-	0	12	0	C	NM_139207	Intron	76448798	-1	tier1	-	no_errors	ENST00000261182	ensembl	human	known	74_37	splice_site	31.03	20	9	SNP	1.000	T	T	76448798	C	T	76448798	5	4	160	1	0	0	0	0	0	0	1	0	10194	521	18	3	576	3	NAP1L1	12	76448798	Splice_Site	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	24142530	76448798	57403097	276	40773											
UHRF1BP1L	23074	genome.wustl.edu	37	chr12	100444952	100444952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	taggtttgcaccagcattcaCactttctgctgtgcccctgt	6	14	8	13	0	2	0	1	0	1	0	2	0	2	0	3	1	4	4	3	1	1	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:100444952C>A	ENST00000279907.7	-	16	3684	c.3472G>T	c.(3472-3474)Gtg>Ttg	p.V1158L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.V808L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1158										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						CCAGCATTCACACTTTCTGCT	0.358																																																	0													120	112	115					12																	100444952		2203	4300	6503	SO:0001583	missense	0				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.3472G>T	12.37:g.100444952C>A	ENSP00000279907:p.Val1158Leu		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.V1158L	ENST00000279907.7	37	c.3472	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	C	3.347	-0.133429	0.06711	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.09911	2.93;2.93	5.03	-0.779	0.10973	.	0.984794	0.08286	N	0.969181	T	0.07279	0.0184	L	0.29908	0.895	0.09310	N	0.999994	B	0.13594	0.008	B	0.12837	0.008	T	0.42582	-0.9443	10	0.27785	T	0.31	-0.0222	5.284	0.15690	0.2472:0.514:0.0:0.2389	.	1158	A0JNW5	UH1BL_HUMAN	L	1158;808	ENSP00000279907:V1158L;ENSP00000444824:V808L	ENSP00000279907:V1158L	V	-	1	0	UHRF1BP1L	98969083	0.007000	0.16637	0.026000	0.17262	0.019000	0.09904	0.256000	0.18351	0.164000	0.19529	-0.175000	0.13238	GTG	UHRF1BP1L	-	NULL	ENSG00000111647		0.358	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	-	0	56	0	C	NM_001006947		100444952	-1	tier1	-	no_errors	ENST00000279907	ensembl	human	known	74_37	missense	11.63	76	10	SNP	0.005	A	A	100444952	C	A	100444952	3	1	160	1	0	0	0	0	1	0	0	0	17018	478	17	3	946	3	UHRF1BP1L	12	100444952	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	23996154	100444952	33406943	277	40774											
PITPNM2	57605	genome.wustl.edu	37	chr12	123471081	123471081	+	Missense_Mutation	SNP	A	A	C	1	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	caccgccacgtccttggtggAgccataggccgcgtgcacgc	6	6	13	16	5	0	0	0	0	0	0	1	1	1	1	5	3	2	1	5	3	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:123471081A>C	ENST00000542749.1	-	23	3691	c.3628T>G	c.(3628-3630)Tcc>Gcc	p.S1210A	PITPNM2_ENST00000320201.4_Missense_Mutation_p.S1210A|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S931A|PITPNM2_ENST00000280562.5_Missense_Mutation_p.S1204A			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1210					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)		TCCTTGGTGGAGCCATAGGCC	0.667																																																	0													26	22	23					12																	123471081		2198	4298	6496	SO:0001583	missense	0			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.3628T>G	12.37:g.123471081A>C	ENSP00000437611:p.Ser1210Ala		Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.S1210A	ENST00000542749.1	37	c.3628	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696412	0.88830	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.12	5.12	0.69794	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	M	0.78456	2.415	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.956;0.994	D	0.89049	0.3454	10	0.62326	D	0.03	-48.9175	15.2168	0.73274	1.0:0.0:0.0:0.0	.	1204;1210	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	A	1204;1210;931;1210	ENSP00000280562:S1204A;ENSP00000322218:S1210A;ENSP00000376223:S931A;ENSP00000437611:S1210A	ENSP00000280562:S1204A	S	-	1	0	PITPNM2	122037034	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.299000	0.96137	2.068000	0.61886	0.459000	0.35465	TCC	PITPNM2	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000090975		0.667	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	-	0	89	0	A	NM_020845		123471081	-1	tier1	-	no_errors	ENST00000320201	ensembl	human	known	74_37	missense	39.22	31	20	SNP	1.000	C	C	123471081	A	C	123471081	3	2	160	1	0	0	0	0	1	0	0	0	11990	304	11	4	429	4	PITPNM2	12	123471081	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	23026129	123471081	10380814	278	40775											
EP400	57634	genome.wustl.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q			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	0			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	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q2779	ENST00000333577.4	37	c.8337		12																																																																																			EP400	-	NULL	ENSG00000183495		0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		-	0	24	0	G	NM_015409		132547141	1	tier1	-	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.737	A	A	132547141	G	A	132547141	2	1	160	1	0	0	0	0	0	0	0	1	5165	962	34	3		3	EP400	12	132547141	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	9076060	132547141	1304754	279	40776											
ZMYM2	7750	genome.wustl.edu	37	chr13	20593738	20593741	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ttcgagatcacatgcaggacTctttcttaatgcagcctgag																								rs372944276		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	TCTT	TCTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:20593738_20593741delTCTT	ENST00000382874.2	+	8	1754_1757	c.1564_1567delTCTT	c.(1564-1569)tctttcfs	p.SF522fs	ZMYM2_ENST00000382883.3_Frame_Shift_Del_p.SF4fs|ZMYM2_ENST00000382881.3_Frame_Shift_Del_p.SF435fs|ZMYM2_ENST00000382869.3_Frame_Shift_Del_p.SF522fs|ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.SF522fs	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	522					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)		CATGCAGGACTCTTTCTTAATGCA	0.373																																																	0																																										SO:0001589	frameshift_variant	0			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.1564_1567delTCTT	13.37:g.20593742_20593745delTCTT	ENSP00000372327:p.Ser522fs		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.F523fs	ENST00000382874.2	37	c.1564_1567	CCDS45016.1	13																																																																																			ZMYM2	-	NULL	ENSG00000121741		0.373	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2		0	81	0	TCTT	NM_003453		20593741	1			no_errors	ENST00000382869	ensembl	human	known	74_37	frame_shift_del	8.70	84	8	DEL	1.000:1.000:0.998:0.994	0	-	20593741	TCTT	-	20593738	7	5	160	1	0	1	0	1	0	0	0	0	17748	1551	54	0	1582	0	ZMYM2	13	20593738	Frame_Shift_Del	DEL	TCTT	TCGA-V5-AASX-01A-11D-A387-09		20593738	94576140	280	40777											
PARP4	143	genome.wustl.edu	37	chr13	25044067	25044067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcccattgatgaaggcttCgaagccacacacagcggcct	10	8	9	14	2	0	2	0	2	0	0	2	3	1	2	3	2	2	1	3	2	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:25044067C>T	ENST00000381989.3	-	16	2116	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	671	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATGAAGGCTTCGAAGCCACAC	0.463																																																	0													89	68	75					13																	25044067		2203	4300	6503	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2011G>A	13.37:g.25044067C>T	ENSP00000371419:p.Glu671Lys		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.E671K	ENST00000381989.3	37	c.2011	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558314	0.65538	.	.	ENSG00000102699	ENST00000381989	T	0.22134	1.97	3.6	3.6	0.41247	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.122641	0.53938	U	0.000051	T	0.31104	0.0786	M	0.65677	2.01	0.58432	D	0.999992	D	0.57257	0.979	P	0.49853	0.624	T	0.13872	-1.0493	10	0.49607	T	0.09	-19.8492	13.1499	0.59484	0.0:1.0:0.0:0.0	.	671	Q9UKK3	PARP4_HUMAN	K	671	ENSP00000371419:E671K	ENSP00000371419:E671K	E	-	1	0	PARP4	23942067	1.000000	0.71417	0.872000	0.34217	0.089000	0.18198	5.091000	0.64505	2.023000	0.59567	0.449000	0.29647	GAA	PARP4	-	pfam_VIT,smart_VIT	ENSG00000102699		0.463	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	-	0	84	0	C	NM_006437		25044067	-1	tier1	-	no_errors	ENST00000381989	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	T	T	25044067	C	T	25044067	3	4	160	1	0	0	0	0	1	0	0	0	11502	893	31	1	3239	1	PARP4	13	25044067	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	4450329	25044067	90125811	281	40778											
NUPL1	9818	genome.wustl.edu	37	chr13	25914177	25914177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcagctggtttgacttttGgggtgtccaatcctgcctct	5	15	10	11	0	2	1	1	1	1	0	4	1	4	1	3	3	2	2	3	3	1	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:25914177G>T	ENST00000381736.3	+	16	1955	c.1705G>T	c.(1705-1707)Ggg>Tgg	p.G569W	NUPL1_ENST00000381718.3_Missense_Mutation_p.G557W	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	569	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)		TTTGACTTTTGGGGTGTCCAA	0.438																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												0													153	142	145					13																	25914177		2203	4300	6503	SO:0001583	missense	0			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.1705G>T	13.37:g.25914177G>T	ENSP00000371155:p.Gly569Trp		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.G569W	ENST00000381736.3	37	c.1705	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721175	0.89205	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	D;T	0.81499	-1.5;-1.42	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.88959	0.6579	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88749	0.3249	10	0.87932	D	0	-4.5407	20.422	0.99049	0.0:0.0:1.0:0.0	.	557;569	A6NI12;Q9BVL2	.;NUPL1_HUMAN	W	569;546;557	ENSP00000371155:G569W;ENSP00000371137:G557W	ENSP00000318459:G546W	G	+	1	0	NUPL1	24812177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.372000	0.97165	2.832000	0.97577	0.655000	0.94253	GGG	NUPL1	-	NULL	ENSG00000139496		0.438	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	-	0	54	0	G			25914177	1	tier1	-	no_errors	ENST00000381736	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	25914177	G	T	25914177	3	4	160	1	0	0	0	0	1	0	0	0	10813	1348	47	3	1767	3	NUPL1	13	25914177	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	870110	25914177	89255701	282	40779											
FRY	10129	genome.wustl.edu	37	chr13	32731475	32731475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttaaggcaccttgataaaGaagtaggaaggtgtatgatg	14	12	12	3	0	0	3	0	2	0	1	0	4	0	4	1	3	0	3	1	3	7	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:32731475G>A	ENST00000380250.3	+	16	2213	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	573						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)		CCTTGATAAAGAAGTAGGAAG	0.358																																																	0													115	107	109					13																	32731475		1879	4114	5993	SO:0001583	missense	0			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.1717G>A	13.37:g.32731475G>A	ENSP00000369600:p.Glu573Lys		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E573K	ENST00000380250.3	37	c.1717	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.613352	0.96637	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.23348	1.91	5.41	5.41	0.78517	.	0.051274	0.85682	D	0.000000	T	0.46464	0.1394	L	0.56769	1.78	0.80722	D	1	D	0.55385	0.971	P	0.59171	0.853	T	0.39981	-0.9587	10	0.87932	D	0	.	19.5488	0.95310	0.0:0.0:1.0:0.0	.	573	Q5TBA9	FRY_HUMAN	K	573;501	ENSP00000369600:E573K	ENSP00000267067:E501K	E	+	1	0	FRY	31629475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.809000	0.99208	2.680000	0.91292	0.650000	0.86243	GAA	FRY	-	superfamily_ARM-type_fold	ENSG00000073910		0.358	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	-	0	39	0	G	NM_023037		32731475	1	tier1	-	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	32731475	G	A	32731475	3	1	160	1	0	0	0	0	1	0	0	0	6087	943	33	3	1779	3	FRY	13	32731475	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	6817298	32731475	82438403	283	40780											
FREM2	341640	genome.wustl.edu	37	chr13	39453061	39453061	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	accctgaagccattctcttaGtgaatcagcctggatctgat	10	12	8	11	0	3	3	1	3	2	0	4	4	3	4	3	1	2	0	3	1	3	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:39453061G>C	ENST00000280481.7	+	23	9169	c.8953G>C	c.(8953-8955)Gtg>Ctg	p.V2985L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2985					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)		CATTCTCTTAGTGAATCAGCC	0.438																																																	0													220	191	201					13																	39453061		2203	4300	6503	SO:0001583	missense	0			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.8953G>C	13.37:g.39453061G>C	ENSP00000280481:p.Val2985Leu		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.V2985L	ENST00000280481.7	37	c.8953	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059679	0.55325	.	.	ENSG00000150893	ENST00000280481	T	0.62639	0.01	5.84	5.84	0.93424	.	0.062019	0.64402	N	0.000005	T	0.64238	0.2580	M	0.84585	2.705	0.58432	D	0.999999	P	0.42649	0.786	B	0.36244	0.22	T	0.68424	-0.5412	10	0.37606	T	0.19	.	14.307	0.66391	0.0705:0.0:0.9295:0.0	.	2985	Q5SZK8	FREM2_HUMAN	L	2985	ENSP00000280481:V2985L	ENSP00000280481:V2985L	V	+	1	0	FREM2	38351061	1.000000	0.71417	0.996000	0.52242	0.709000	0.40893	5.663000	0.68038	2.764000	0.94973	0.655000	0.94253	GTG	FREM2	-	NULL	ENSG00000150893		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	100	0	G	NM_207361		39453061	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	15.96	79	15	SNP	1.000	C	C	39453061	G	C	39453061	3	2	160	1	0	0	0	0	1	0	0	0	6069	1029	36	5	9043	5	FREM2	13	39453061	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	6721586	39453061	75716817	284	40781											
FOXO1	2308	genome.wustl.edu	37	chr13	41134546	41134546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gattgcttatctcagacagaCtgggtaaagtagaggccatc	12	10	11	8	0	1	3	1	0	1	3	3	4	1	3	1	2	1	3	1	2	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:41134546C>T	ENST00000379561.5	-	2	1466	c.1082G>A	c.(1081-1083)aGt>aAt	p.S361N	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	361	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)		CTCAGACAGACTGGGTAAAGT	0.458																																																	0													174	164	167					13																	41134546		2203	4300	6503	SO:0001583	missense	0				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.1082G>A	13.37:g.41134546C>T	ENSP00000368880:p.Ser361Asn		O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S361N	ENST00000379561.5	37	c.1082	CCDS9371.1	13	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342558	0.81911	.	.	ENSG00000150907	ENST00000379561	D	0.94092	-3.35	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	M	0.73962	2.25	0.58432	D	0.999997	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.994	D	0.94858	0.8019	10	0.26408	T	0.33	-8.5152	18.0252	0.89266	0.0:1.0:0.0:0.0	.	335;361	F8TAD1;Q12778	.;FOXO1_HUMAN	N	361	ENSP00000368880:S361N	ENSP00000368880:S361N	S	-	2	0	FOXO1	40032546	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	7.487000	0.81328	2.504000	0.84457	0.563000	0.77884	AGT	FOXO1	-	NULL	ENSG00000150907		0.458	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO1	HGNC	protein_coding	OTTHUMT00000044634.3	-	0	74	0	C	NM_002015		41134546	-1	tier1	-	no_errors	ENST00000379561	ensembl	human	known	74_37	missense	5.88	80	5	SNP	1.000	T	T	41134546	C	T	41134546	3	4	160	1	0	0	0	0	1	0	0	0	6047	565	20	3	889	3	FOXO1	13	41134546	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1681485	41134546	74035332	285	40782											
LMO7	4008	genome.wustl.edu	37	chr13	76430682	76430682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcggaggctcttcctcagGagctgaagtcaggatcagaa	10	8	12	11	1	4	2	3	1	1	1	6	5	5	5	2	4	1	2	2	4	2	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:76430682G>A	ENST00000321797.8	+	28	4833	c.4112G>A	c.(4111-4113)gGa>gAa	p.G1371E	LMO7_ENST00000465261.2_Missense_Mutation_p.E1335K|LMO7_ENST00000526202.1_Missense_Mutation_p.G1248E|LMO7_ENST00000357063.3_Missense_Mutation_p.E1620K|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000341547.4_Missense_Mutation_p.G1322E			Q8WWI1	LMO7_HUMAN	LIM domain 7	1656					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)		TCTTCCTCAGGAGCTGAAGTC	0.443																																																	0													154	151	152					13																	76430682		2203	4300	6503	SO:0001583	missense	0			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.4112G>A	13.37:g.76430682G>A	ENSP00000317802:p.Gly1371Glu		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.E1620K	ENST00000321797.8	37	c.4858		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.064262|6.064262	0.97251|0.97251	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000357063;ENST00000465261|ENST00000341547;ENST00000321797;ENST00000526202	T;T|T;T;T	0.46063|0.68181	1.45;0.88|0.19;-0.22;-0.31	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.252628	.|0.38720	.|N	.|0.001595	T|T	0.69682|0.69682	0.3138|0.3138	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|D;D	0.89917|0.89917	1.0|1.0;1.0	D|D;D	0.69307|0.97110	0.963|1.0;1.0	T|T	0.76833|0.76833	-0.2813|-0.2813	9|10	0.87932|0.87932	D|D	0|0	-28.3044|-28.3044	20.1736|20.1736	0.98170|0.98170	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1335|1248;1322	E9PLH4|E9PMS6;Q8WWI1-3	.|.;.	K|E	1620;1335|1322;1371;1248	ENSP00000349571:E1620K;ENSP00000433352:E1335K|ENSP00000342112:G1322E;ENSP00000317802:G1371E;ENSP00000431129:G1248E	ENSP00000349571:E1620K|ENSP00000317802:G1371E	E|G	+|+	1|2	0|0	LMO7|LMO7	75328683|75328683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	9.198000|9.198000	0.94994|0.94994	2.767000|2.767000	0.95098|0.95098	0.557000|0.557000	0.71058|0.71058	GAG|GGA	LMO7	-	NULL	ENSG00000136153		0.443	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	-	0	18	0	G	NM_005358		76430682	1	tier1	-	no_errors	ENST00000357063	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	A	A	76430682	G	A	76430682	3	1	160	1	0	0	0	0	1	0	0	0	8885	1175	41	3	5089	3	LMO7	13	76430682	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	35296136	76430682	38739196	286	40783											
OXGR1	27199	genome.wustl.edu	37	chr13	97639174	97639174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaacgatgtaagcttcatgGatctgattctcaatggaaca	14	11	9	7	1	3	1	2	1	2	0	4	5	3	3	0	2	3	2	0	2	4	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:97639174G>A	ENST00000298440.1	-	4	1083	c.840C>T	c.(838-840)atC>atT	p.I280I	OXGR1_ENST00000543457.1_Silent_p.I280I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	280					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAGCTTCATGGATCTGATTCT	0.428																																																	0													124	111	116					13																	97639174		2203	4300	6503	SO:0001819	synonymous_variant	0			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"GPCR / Class A : Orphans"	4531	protein-coding gene	gene with protein product	"2-oxoglutarate receptor 1", "alpha-ketoglutarate receptor 1"	606922	"G protein-coupled receptor 80"	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.840C>T	13.37:g.97639174G>A			Q5T5A7|Q86TL1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I280	ENST00000298440.1	37	c.840	CCDS9482.1	13																																																																																			OXGR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000165621		0.428	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXGR1	HGNC	protein_coding	OTTHUMT00000045521.3	-	0	36	0	G	NM_080818		97639174	-1	tier1	-	no_errors	ENST00000298440	ensembl	human	known	74_37	silent	14.49	58	10	SNP	1.000	A	A	97639174	G	A	97639174	2	1	160	1	0	0	0	0	0	0	0	1	11371	1164	41	3		3	OXGR1	13	97639174	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	21208492	97639174	17530704	287	40784											
MYO16	23026	genome.wustl.edu	37	chr13	109779715	109779715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcctgggccagtgcctcGttggcccgtccatctggtct	3	11	13	14	2	2	0	0	0	2	0	4	0	3	0	5	4	1	1	5	4	0	1	rs377315850		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:109779715G>A	ENST00000357550.2	+	30	3843	c.3802G>A	c.(3802-3804)Gtt>Att	p.V1268I	MYO16_ENST00000356711.2_Missense_Mutation_p.V1268I|MYO16_ENST00000457511.2_Missense_Mutation_p.V780I	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)			CCAGTGCCTCGTTGGCCCGTC	0.617																																																	0								G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	54	45	48		3868,3802	-1.1	0	13		48	0,8600		0,0,4300	no	missense,missense	MYO16	NM_001198950.1,NM_015011.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	1290/1881,1268/1859	109779715	1,13005	2203	4300	6503	SO:0001583	missense	0				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.3802G>A	13.37:g.109779715G>A	ENSP00000350160:p.Val1268Ile			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1268I	ENST00000357550.2	37	c.3802	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	1.445	-0.566586	0.03910	2.27E-4	0.0	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.42513	0.97;0.97;0.97	5.38	-1.06	0.10002	.	0.395784	0.17897	U	0.158325	T	0.13286	0.0322	N	0.03608	-0.345	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15178	-1.0446	9	.	.	.	.	1.8286	0.03125	0.2184:0.2486:0.4054:0.1276	.	780;1268	F8W883;Q9Y6X6	.;MYO16_HUMAN	I	1268;1268;780	ENSP00000349145:V1268I;ENSP00000350160:V1268I;ENSP00000401633:V780I	.	V	+	1	0	MYO16	108577716	0.093000	0.21703	0.000000	0.03702	0.049000	0.14656	0.363000	0.20301	-0.253000	0.09514	-0.244000	0.11960	GTT	MYO16	-	NULL	ENSG00000041515		0.617	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0	100	0	G	NM_015011		109779715	1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	13.64	76	12	SNP	0.001	A	A	109779715	G	A	109779715	3	1	160	1	0	0	0	0	1	0	0	0	10102	1145	40	1	3920	1	MYO16	13	109779715	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	12140541	109779715	5390163	288	40785											
OR4Q3	441669	genome.wustl.edu	37	chr14	20216087	20216087	+	Silent	SNP	G	G	T	0	0	1	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	gtcatactagtcatccagctGcctttctgtgggcccaatga	8	12	9	12	0	3	1	2	1	1	0	4	1	4	1	3	1	3	1	3	1	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:20216087G>T	ENST00000331723.1	+	1	501	c.501G>T	c.(499-501)ctG>ctT	p.L167L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATCCAGCTGCCTTTCTGTG	0.507																																																	0													134	124	127					14																	20216087		2203	4300	6503	SO:0001819	synonymous_variant	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.501G>T	14.37:g.20216087G>T			Q6IEX4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L167	ENST00000331723.1	37	c.501	CCDS32020.1	14																																																																																			OR4Q3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182652		0.507	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	HGNC	protein_coding	OTTHUMT00000409818.2	-	0	100	0	G			20216087	1	tier1	-	no_errors	ENST00000331723	ensembl	human	known	74_37	silent	23.73	90	28	SNP	0.719	T	T	20216087	G	T	20216087	2	4	160	1	0	0	0	0	0	0	0	1	11120	1306	46	3		3	OR4Q3	14	20216087	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09		20216087	87133453	289	40786											
PABPN1	8106	genome.wustl.edu	37	chr14	23792618	23792618	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaacagcagaagagctggaAgctcactttcatggctgtgg	11	8	13	9	0	2	2	2	0	0	2	2	3	2	3	0	3	4	5	0	3	3	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:23792618A>T	ENST00000216727.4	+	4	748	c.567A>T	c.(565-567)gaA>gaT	p.E189D	PABPN1_ENST00000557702.1_Missense_Mutation_p.E61D|PABPN1_ENST00000556821.1_Missense_Mutation_p.E61D|PABPN1_ENST00000397276.2_Missense_Mutation_p.E189D|AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.E216D|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.E216D	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	189	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)		AAGAGCTGGAAGCTCACTTTC	0.478																																																	0													95	92	93					14																	23792618		2203	4300	6503	SO:0001583	missense	0			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.567A>T	14.37:g.23792618A>T	ENSP00000216727:p.Glu189Asp		D3DS49|O43484	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E189D	ENST00000216727.4	37	c.567	CCDS9592.1	14	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296730	0.81025	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	4.89	1.11	0.20524	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	M	0.62016	1.91	0.58432	D	0.999993	P;P;P	0.46706	0.883;0.858;0.876	P;P;P	0.61800	0.823;0.661;0.894	T	0.02150	-1.1205	10	0.72032	D	0.01	-5.2755	7.8495	0.29446	0.5725:0.0:0.4275:0.0	.	189;189;216	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	D	216;216;189;189;61;61	ENSP00000451320:E216D;ENSP00000452479:E216D;ENSP00000216727:E189D;ENSP00000380446:E189D;ENSP00000451970:E61D;ENSP00000450724:E61D	ENSP00000216727:E189D	E	+	3	2	PABPN1;RP11-124D2.2	22862458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.980000	0.29513	0.283000	0.22279	0.459000	0.35465	GAA	PABPN1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000100836		0.478	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PABPN1	HGNC	protein_coding	OTTHUMT00000071767.4	-	0	41	0	A	NM_004643		23792618	1	tier1	-	no_errors	ENST00000216727	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	T	T	23792618	A	T	23792618	3	4	160	1	0	0	0	0	1	0	0	0	11407	69	3	5	581	5	PABPN1	14	23792618	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	3576531	23792618	83556922	290	40787											
JPH4	84502	genome.wustl.edu	37	chr14	24041055	24041055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcctgggctatcagtttgGccattcgagctgcctccacg	5	11	12	13	2	1	0	1	0	0	0	4	1	3	0	4	3	2	3	4	3	1	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:24041055G>T	ENST00000397118.3	-	5	2128	c.1226C>A	c.(1225-1227)gCc>gAc	p.A409D	JPH4_ENST00000544177.1_Missense_Mutation_p.A74D|JPH4_ENST00000356300.4_Missense_Mutation_p.A409D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	409					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TATCAGTTTGGCCATTCGAGC	0.637																																																	0													83	76	78					14																	24041055		2203	4300	6503	SO:0001583	missense	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1226C>A	14.37:g.24041055G>T	ENSP00000380307:p.Ala409Asp		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.A409D	ENST00000397118.3	37	c.1226	CCDS9603.1	14	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445213	0.83993	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.79141	-1.24;-1.24;-0.3	5.24	5.24	0.73138	.	0.000000	0.29964	U	0.010741	D	0.86003	0.5829	M	0.71581	2.175	0.47659	D	0.999488	D;D	0.76494	0.999;0.994	D;P	0.76575	0.988;0.663	D	0.86877	0.2039	10	0.87932	D	0	.	11.7226	0.51691	0.0:0.0:0.8235:0.1765	.	74;409	F5H1L9;Q96JJ6	.;JPH4_HUMAN	D	409;409;409;410;74	ENSP00000348648:A409D;ENSP00000380307:A409D;ENSP00000439562:A74D	ENSP00000267407:A410D	A	-	2	0	JPH4	23110895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.291000	0.65667	2.612000	0.88384	0.561000	0.74099	GCC	JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.637	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1		0	80	0	G	NM_032452		24041055	-1			no_errors	ENST00000356300	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	T	T	24041055	G	T	24041055	3	4	160	1	0	0	0	0	1	0	0	0	7990	1203	42	3	672	3	JPH4	14	24041055	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	248437	24041055	83308485	291	40788											
C14orf126	112487	genome.wustl.edu	37	chr14	31917469	31917469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctacttctttttcacataGagtcacaaattgagagtaaa	15	13	6	7	0	3	2	2	1	1	2	3	3	3	2	0	0	2	2	0	0	5	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:31917469G>C	ENST00000310850.4	-	3	489	c.373C>G	c.(373-375)Cta>Gta	p.L125V	RP11-176H8.1_ENST00000547378.1_Intron|CTD-2213F21.2_ENST00000502430.2_RNA|DTD2_ENST00000356180.4_Missense_Mutation_p.L125V	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	125					D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)										TTTTCACATAGAGTCACAAAT	0.418																																																	0													237	241	240					14																	31917469		2203	4300	6503	SO:0001583	missense	0			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.373C>G	14.37:g.31917469G>C	ENSP00000312224:p.Leu125Val		D3DS87	Missense_Mutation	SNP	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom	p.L125V	ENST00000310850.4	37	c.373	CCDS9643.1	14	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603748	0.28534	.	.	ENSG00000129480	ENST00000310850;ENST00000356180	T;T	0.49432	0.78;0.78	5.75	3.94	0.45596	D-Tyr tRNAtyr deacylase-like domain (2);	0.134163	0.51477	D	0.000081	T	0.44829	0.1312	M	0.73962	2.25	0.42471	D	0.992822	P	0.40909	0.732	B	0.37731	0.257	T	0.35649	-0.9780	10	0.22706	T	0.39	-11.7254	10.4569	0.44557	0.2251:0.0:0.7749:0.0	.	125	Q96FN9	DTD2_HUMAN	V	125	ENSP00000312224:L125V;ENSP00000348503:L125V	ENSP00000312224:L125V	L	-	1	2	C14orf126	30987220	0.995000	0.38212	0.733000	0.30861	0.747000	0.42532	2.447000	0.44917	0.785000	0.33685	-0.251000	0.11542	CTA	DTD2	-	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom	ENSG00000129480		0.418	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTD2	HGNC	protein_coding	OTTHUMT00000276614.2	-	0	102	0	G	NM_080664		31917469	-1	tier1	-	no_errors	ENST00000310850	ensembl	human	known	74_37	missense	8.70	105	10	SNP	0.989	C	C	31917469	G	C	31917469	3	2	160	1	0	0	0	0	1	0	0	0	1748	933	33	5	137	5	C14orf126	14	31917469	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	7876414	31917469	75432071	292	40789											
ARHGAP5	394	genome.wustl.edu	37	chr14	32621673	32621673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgccttgaaagaaattGttaagaaatttcatcctgta	14	15	6	6	0	2	3	2	1	0	2	3	3	3	3	2	0	1	2	2	0	5	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:32621673G>A	ENST00000345122.3	+	6	4435	c.4120G>A	c.(4120-4122)Gtt>Att	p.V1374I	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V1374I|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V1373I|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.V113I|ARHGAP5_ENST00000396582.2_Missense_Mutation_p.V109I|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V1373I	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1374	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GAAAGAAATTGTTAAGAAATT	0.274																																					NSCLC(9;77 350 3443 29227 41353)												0													63	66	65					14																	32621673		2203	4292	6495	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.4120G>A	14.37:g.32621673G>A	ENSP00000371897:p.Val1374Ile		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.V1374I	ENST00000345122.3	37	c.4120	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707876	0.48412	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000396582;ENST00000345122;ENST00000432921;ENST00000433497;ENST00000554090	T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.5	4.56	0.56223	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.120851	0.56097	D	0.000036	T	0.14141	0.0342	L	0.28504	0.86	0.46521	D	0.999086	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.25506	0.061;0.007;0.012	T	0.04165	-1.0972	10	0.41790	T	0.15	.	11.9079	0.52723	0.0:0.1301:0.7355:0.1345	.	109;1373;1374	Q13017-3;Q13017-2;Q13017	.;.;RHG05_HUMAN	I	1373;1374;109;1374;1373;113;113	ENSP00000452222:V1373I;ENSP00000441692:V1374I;ENSP00000379827:V109I;ENSP00000371897:V1374I;ENSP00000393307:V1373I;ENSP00000407395:V113I;ENSP00000451061:V113I	ENSP00000371897:V1374I	V	+	1	0	ARHGAP5	31691424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.942000	0.49018	2.754000	0.94517	0.585000	0.79938	GTT	ARHGAP5	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000100852		0.274	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0	59	0	G	NM_001030055		32621673	1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	8.45	65	6	SNP	1.000	A	A	32621673	G	A	32621673	3	1	160	1	0	0	0	0	1	0	0	0	886	1377	48	3	4138	3	ARHGAP5	14	32621673	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	704204	32621673	74727867	293	40790											
KLHDC1	122773	genome.wustl.edu	37	chr14	50190640	50190640	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagacacagtgaactccaAgactgttttgatgttcatga	13	11	10	7	0	1	5	1	3	0	2	2	6	2	5	1	1	1	2	1	1	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:50190640A>G	ENST00000359332.2	+	5	543	c.453A>G	c.(451-453)caA>caG	p.Q151Q		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	151						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GTGAACTCCAAGACTGTTTTG	0.348																																																	0													205	181	189					14																	50190640		2203	4300	6503	SO:0001819	synonymous_variant	0			AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.453A>G	14.37:g.50190640A>G			B3KXD9|Q8WYI1	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Gal_Oxase/kelch_b-propeller	p.Q151	ENST00000359332.2	37	c.453	CCDS9692.1	14																																																																																			KLHDC1	-	superfamily_Gal_Oxase/kelch_b-propeller	ENSG00000197776		0.348	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC1	HGNC	protein_coding	OTTHUMT00000276882.2	-	0	94	0	A	NM_172193		50190640	1	tier1	-	no_errors	ENST00000359332	ensembl	human	known	74_37	silent	5.04	113	6	SNP	1.000	G	G	50190640	A	G	50190640	2	3	160	1	0	0	0	0	0	0	0	1	8381	69	3	4		4	KLHDC1	14	50190640	Silent	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	17568967	50190640	57158900	294	40791											
SYT16	83851	genome.wustl.edu	37	chr14	62536530	62536530	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagaagtatctgcctgcGaaggtatcctttgcctcaca	10	10	9	12	1	2	1	1	0	1	1	3	2	3	1	3	1	3	3	3	1	4	3	rs376796970		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:62536530G>T	ENST00000430451.2	+	2	930	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	SYT16_ENST00000446982.2_Nonsense_Mutation_p.E245*|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	245					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)		ATCTGCCTGCGAAGGTATCCT	0.483																																																	0													88	91	90					14																	62536530		1983	4160	6143	SO:0001587	stop_gained	0			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.733G>T	14.37:g.62536530G>T	ENSP00000394700:p.Glu245*		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Nonsense_Mutation	SNP	NULL	p.E245*	ENST00000430451.2	37	c.733	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.737615	0.97801	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	.	.	.	5.4	2.4	0.29515	.	0.260060	0.36740	N	0.002430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-8.7596	6.9413	0.24494	0.2265:0.126:0.6475:0.0	.	.	.	.	X	245	.	ENSP00000394700:E245X	E	+	1	0	SYT16	61606283	1.000000	0.71417	0.258000	0.24420	0.425000	0.31504	2.524000	0.45589	0.327000	0.23409	0.655000	0.94253	GAA	SYT16	-	NULL	ENSG00000139973		0.483	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	-	0	56	0	G	NM_031914		62536530	1	tier1	-	no_errors	ENST00000446982	ensembl	human	known	74_37	nonsense	23.19	53	16	SNP	0.940	T	T	62536530	G	T	62536530	4	4	160	1	0	0	0	0	0	1	0	0	15519	1059	37	2	739	2	SYT16	14	62536530	Nonsense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	12345890	62536530	44813010	295	40792											
ZBTB25	7597	genome.wustl.edu	37	chr14	64953924	64953924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttcttttccttgaaaaaGaaaaattacagtttaattct	14	19	3	5	0	2	2	0	1	2	1	3	2	3	2	1	0	1	1	1	0	6	9	rs142507817		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:64953924G>C	ENST00000608382.1	-	3	1216	c.1025C>G	c.(1024-1026)tCt>tGt	p.S342C	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000394715.1_Missense_Mutation_p.S342C	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	342					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)	p.S342F(1)		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)		CCTTGAAAAAGAAAAATTACA	0.403																																																	1	Substitution - Missense(1)	skin(1)											104	111	108					14																	64953924		2203	4300	6503	SO:0001583	missense	0			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.1025C>G	14.37:g.64953924G>C	ENSP00000476746:p.Ser342Cys		B3KUX6|Q8IYH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S342C	ENST00000608382.1	37	c.1025	CCDS9765.1	14	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334439	0.60853	.	.	ENSG00000089775	ENST00000261683;ENST00000394715	T;T	0.24723	1.84;1.84	5.97	5.97	0.96955	.	0.140827	0.49916	D	0.000139	T	0.39886	0.1095	L	0.27053	0.805	0.43275	D	0.995234	D	0.76494	0.999	D	0.65573	0.936	T	0.07102	-1.0790	10	0.48119	T	0.1	-16.2397	20.0492	0.97617	0.0:0.0:1.0:0.0	.	342	P24278	ZBT25_HUMAN	C	342	ENSP00000261683:S342C;ENSP00000378204:S342C	ENSP00000261683:S342C	S	-	2	0	ZBTB25	64023677	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.191000	0.89716	2.836000	0.97738	0.655000	0.94253	TCT	ZBTB25	-	NULL	ENSG00000089775		0.403	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB25	HGNC	protein_coding	OTTHUMT00000280649.2		0	21	0	G	NM_006977		64953924	-1			no_errors	ENST00000394715	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.993	C	C	64953924	G	C	64953924	3	2	160	1	0	0	0	0	1	0	0	0	17580	942	33	5	286	5	ZBTB25	14	64953924	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2417394	64953924	42395616	296	40793											
EXD2	55218	genome.wustl.edu	37	chr14	69704507	69704507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgagcgccggcaggtgcGttctggggccagggccctgc	3	7	17	14	3	1	1	0	1	1	0	2	1	2	1	4	5	3	2	4	5	0	1	rs138036015		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:69704507G>A	ENST00000409018.3	+	8	1636	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	EXD2_ENST00000312994.5_Missense_Mutation_p.R503H|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409242.1_Missense_Mutation_p.R378H|EXD2_ENST00000409675.1_Missense_Mutation_p.R378H|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Missense_Mutation_p.R378H|EXD2_ENST00000409949.1_Missense_Mutation_p.R378H|EXD2_ENST00000449989.1_Missense_Mutation_p.R378H	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	503							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CGGCAGGTGCGTTCTGGGGCC	0.617																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	21	21	21		1508,1508,1508,1508,1133	5.5	1	14	dbSNP_134	21	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	EXD2	NM_001193360.1,NM_001193361.1,NM_001193362.1,NM_001193363.1,NM_018199.3	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	503/622,503/622,503/622,503/622,378/497	69704507	1,13005	2203	4300	6503	SO:0001583	missense	0			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1508G>A	14.37:g.69704507G>A	ENSP00000387331:p.Arg503His		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.R503H	ENST00000409018.3	37	c.1508	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.477440	0.96291	0.0	1.16E-4	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.69561	-0.08;-0.41;-0.41;-0.41;-0.41;-0.08;-0.41	5.51	5.51	0.81932	.	0.044830	0.85682	D	0.000000	T	0.76478	0.3993	M	0.72118	2.19	0.80722	D	1	D;D;D	0.57899	0.975;0.981;0.981	P;B;B	0.51806	0.68;0.284;0.332	T	0.79122	-0.1933	10	0.87932	D	0	-14.1201	19.61	0.95602	0.0:0.0:1.0:0.0	.	503;378;378	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	H	503;378;378;378;378;503;378	ENSP00000387331:R503H;ENSP00000386915:R378H;ENSP00000386762:R378H;ENSP00000386632:R378H;ENSP00000386839:R378H;ENSP00000313140:R503H;ENSP00000392177:R378H	ENSP00000313140:R503H	R	+	2	0	EXD2	68774260	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.978000	0.93450	2.868000	0.98415	0.557000	0.71058	CGT	EXD2	-	NULL	ENSG00000081177		0.617	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	-	0	29	0	G			69704507	1	tier1	rs138036015	no_errors	ENST00000312994	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A	A	69704507	G	A	69704507	3	1	160	1	0	0	0	0	1	0	0	0	5314	1145	40	1	1155	1	EXD2	14	69704507	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	4750583	69704507	37645033	297	40794											
ACYP1	97	genome.wustl.edu	37	chr14	75520169	75520169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttacaatttggaagtctGagtaatccaacttcaagatg	14	14	7	6	0	2	2	1	1	1	1	3	3	3	3	1	1	2	1	1	1	6	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:75520169G>A	ENST00000238618.3	-	3	381	c.278C>T	c.(277-279)tCa>tTa	p.S93L	ACYP1_ENST00000555463.1_Missense_Mutation_p.S123L|ACYP1_ENST00000555694.1_Missense_Mutation_p.S93L|MLH3_ENST00000355774.2_5'Flank|MLH3_ENST00000238662.7_5'Flank|MLH3_ENST00000380968.2_5'Flank|ACYP1_ENST00000357971.3_3'UTR|MLH3_ENST00000556257.1_5'Flank	NM_001107.3	NP_001098.1	P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	93	Acylphosphatase-like. {ECO:0000255|PROSITE-ProRule:PRU00520}.				phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)	acylphosphatase activity (GO:0003998)			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		TTGGAAGTCTGAGTAATCCAA	0.328																																																	0													158	157	157					14																	75520169		2203	4300	6503	SO:0001583	missense	0			X84194	CCDS9838.1, CCDS45137.1	14q24.3	2014-08-08			ENSG00000119640	ENSG00000119640	3.6.1.7		179	protein-coding gene	gene with protein product		600875				7796909, 9730610	Standard	NM_001107		Approved		uc001xrg.3	P07311	OTTHUMG00000171767	ENST00000238618.3:c.278C>T	14.37:g.75520169G>A	ENSP00000238618:p.Ser93Leu		A6NDV8|B2R590	Missense_Mutation	SNP	pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like,prints_Acylphosphatase	p.S93L	ENST00000238618.3	37	c.278	CCDS9838.1	14	.	.	.	.	.	.	.	.	.	.	G	14.97	2.692990	0.48202	.	.	ENSG00000119640	ENST00000238618;ENST00000555463;ENST00000555694	.	.	.	5.63	3.71	0.42584	Acylphosphatase-like (3);	0.641907	0.14570	N	0.311520	T	0.47116	0.1428	.	.	.	0.23657	N	0.997184	B	0.26318	0.146	B	0.38755	0.281	T	0.48031	-0.9070	8	0.66056	D	0.02	-2.1651	11.4032	0.49883	0.0:0.2458:0.5777:0.1766	.	93	P07311	ACYP1_HUMAN	L	93;123;93	.	ENSP00000238618:S93L	S	-	2	0	ACYP1	74589922	0.029000	0.19370	1.000000	0.80357	0.973000	0.67179	1.500000	0.35682	2.672000	0.90937	0.460000	0.39030	TCA	ACYP1	-	pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like	ENSG00000119640		0.328	ACYP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACYP1	HGNC	protein_coding	OTTHUMT00000415013.1	-	0	56	0	G			75520169	-1	tier1	-	no_errors	ENST00000238618	ensembl	human	known	74_37	missense	10.81	66	8	SNP	0.410	A	A	75520169	G	A	75520169	3	1	160	1	0	0	0	0	1	0	0	0	228	1294	45	3	25	3	ACYP1	14	75520169	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	5815662	75520169	31829371	298	40795											
AK7	122481	genome.wustl.edu	37	chr14	96953364	96953364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaatgaatgttgcaacGtccgacccgaagaccctgtt	10	9	10	12	3	0	3	0	2	0	1	1	5	1	3	4	0	2	3	4	0	4	2	rs368361362		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:96953364G>A	ENST00000267584.4	+	17	2148	c.2104G>A	c.(2104-2106)Gtc>Atc	p.V702I		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	702	DPY-30.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGTTGCAACGTCCGACCCGA	0.408													G|||	1	0.000199681	0	0	5008	,	,		16967	0		0.001	False		,,,				2504	0																0								G	ILE/VAL	0,4406		0,0,2203	92	89	90		2104	2.7	0.4	14		90	3,8597	3.0+/-9.4	0,3,4297	no	missense	AK7	NM_152327.2	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	702/724	96953364	3,13003	2203	4300	6503	SO:0001583	missense	0			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.2104G>A	14.37:g.96953364G>A	ENSP00000267584:p.Val702Ile		Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin,superfamily_P-loop_NTPase	p.V702I	ENST00000267584.4	37	c.2104	CCDS9945.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.635|2.635	-0.285554|-0.285554	0.05605|0.05605	0.0|0.0	3.49E-4|3.49E-4	ENSG00000140057|ENSG00000140057	ENST00000554706|ENST00000267584	.|T	.|0.55760	.|0.5	5.45|5.45	2.65|2.65	0.31530|0.31530	.|Dpy-30 motif (1);	.|0.373959	.|0.30101	.|N	.|0.010410	T|T	0.35970|0.35970	0.0950|0.0950	N|N	0.25332|0.25332	0.735|0.735	0.51767|0.51767	D|D	0.999937|0.999937	.|B	.|0.15719	.|0.014	.|B	.|0.18263	.|0.021	T|T	0.07539|0.07539	-1.0767|-1.0767	5|10	.|0.25751	.|T	.|0.34	-21.7269|-21.7269	9.4485|9.4485	0.38712|0.38712	0.3409:0.0:0.6591:0.0|0.3409:0.0:0.6591:0.0	.|.	.|702	.|Q96M32	.|KAD7_HUMAN	H|I	123|702	.|ENSP00000267584:V702I	.|ENSP00000267584:V702I	R|V	+|+	2|1	0|0	AK7|AK7	96023117|96023117	0.999000|0.999000	0.42202|0.42202	0.397000|0.397000	0.26308|0.26308	0.035000|0.035000	0.12851|0.12851	1.049000|1.049000	0.30392|0.30392	0.376000|0.376000	0.24707|0.24707	0.591000|0.591000	0.81541|0.81541	CGT|GTC	AK7	-	pfam_Dpy-30_motif	ENSG00000140057		0.408	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	-	0	67	0	G			96953364	1	tier1	-	no_errors	ENST00000267584	ensembl	human	known	74_37	missense	8.00	92	8	SNP	0.078	A	A	96953364	G	A	96953364	3	1	160	1	0	0	0	0	1	0	0	0	444	1145	40	1	2170	1	AK7	14	96953364	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	21433195	96953364	10396176	299	40796											
AKT1	207	genome.wustl.edu	37	chr14	105246426	105246426	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	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	aggccaaggggatacttacgCgccacagagaagttgttgag	12	7	14	8	2	0	2	0	1	0	1	0	4	0	3	2	3	2	2	2	3	4	4	rs560243859	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:105246426C>T	ENST00000554581.1	-	2	1654	c.174G>A	c.(172-174)gcG>gcA	p.A58A	AKT1_ENST00000349310.3_Splice_Site_p.A58A|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Splice_Site_p.A58A|AKT1_ENST00000554848.1_Splice_Site_p.A58A|AKT1_ENST00000407796.2_Splice_Site_p.A58A|AKT1_ENST00000555528.1_Splice_Site_p.A58A			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	58	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|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 lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GATACTTACGCGCCACAGAGA	0.602		1	Mis		"breast, colorectal, ovarian, NSCLC"								C|||	3	0.000599042	8e-04	0	5008	,	,		16922	0		0	False		,,,				2504	0.002							Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0													99	93	95					14																	105246426		2203	4300	6503	SO:0001630	splice_region_variant	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.175+1G>A	14.37:g.105246426C>T			B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.A58	ENST00000554581.1	37	c.174	CCDS9994.1	14																																																																																			AKT1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000142208		0.602	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1		0	103	0	C	NM_005163	Silent	105246426	-1			no_errors	ENST00000349310	ensembl	human	known	74_37	silent	5.19	72	4	SNP	0.432	T	T	105246426	C	T	105246426	5	4	160	1	0	0	0	0	0	0	1	0	478	782	27	1	1316	1	AKT1	14	105246426	Splice_Site	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	8293062	105246426	2103114	300	40797											
AHNAK2	113146	genome.wustl.edu	37	chr14	105418935	105418935	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgccatcgggggctgtcacTtccgccttggggcctttcag	3	11	13	14	3	2	0	2	0	0	0	5	0	3	0	4	4	0	1	4	4	0	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:105418935T>G	ENST00000333244.5	-	7	2972	c.2853A>C	c.(2851-2853)gaA>gaC	p.E951D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	951						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)			GGGCTGTCACTTCCGCCTTGG	0.612																																																	0													141	165	157					14																	105418935		1941	4123	6064	SO:0001583	missense	0			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.2853A>C	14.37:g.105418935T>G	ENSP00000353114:p.Glu951Asp		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E951D	ENST00000333244.5	37	c.2853	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	N	3.769	-0.048066	0.07407	.	.	ENSG00000185567	ENST00000333244	T	0.00557	6.62	2.96	-4.32	0.03688	.	.	.	.	.	T	0.00695	0.0023	L	0.38733	1.17	0.09310	N	1	D	0.59767	0.986	D	0.68621	0.959	T	0.34925	-0.9809	9	0.14656	T	0.56	-2.1782	2.7245	0.05210	0.0965:0.369:0.27:0.2645	.	951	Q8IVF2	AHNK2_HUMAN	D	951	ENSP00000353114:E951D	ENSP00000353114:E951D	E	-	3	2	AHNAK2	104489980	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.952000	0.03881	-1.359000	0.02174	-3.649000	0.00026	GAA	AHNAK2	-	NULL	ENSG00000185567		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	244	0	T	NM_138420		105418935	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	6.37	191	13	SNP	0.000	G	G	105418935	T	G	105418935	3	3	160	1	0	0	0	0	1	0	0	0	415	1606	56	4	14538	4	AHNAK2	14	105418935	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	172509	105418935	1930605	301	40798											
AHNAK2	113146	genome.wustl.edu	37	chr14	105420268	105420268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctcgctgtggggtactaaggCgcctttctctttctggctct	3	15	11	12	2	3	0	0	0	3	0	5	0	3	0	1	4	1	3	1	4	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:105420268C>T	ENST00000333244.5	-	7	1639	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	507						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTACTAAGGCGCCTTTCTCT	0.537																																																	0													67	72	70					14																	105420268		1944	4127	6071	SO:0001583	missense	0			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.1520G>A	14.37:g.105420268C>T	ENSP00000353114:p.Arg507His		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R507H	ENST00000333244.5	37	c.1520	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	6.689	0.495692	0.12762	.	.	ENSG00000185567	ENST00000333244	T	0.02787	4.16	3.21	-6.42	0.01932	.	.	.	.	.	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47275	-0.9130	9	0.45353	T	0.12	.	6.1307	0.20203	0.0:0.2729:0.2993:0.4278	.	507	Q8IVF2	AHNK2_HUMAN	H	507	ENSP00000353114:R507H	ENSP00000353114:R507H	R	-	2	0	AHNAK2	104491313	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.300000	0.00521	-1.977000	0.00994	-0.254000	0.11334	CGC	AHNAK2	-	NULL	ENSG00000185567		0.537	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	103	0	C	NM_138420		105420268	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	13.73	88	14	SNP	0.000	T	T	105420268	C	T	105420268	3	4	160	1	0	0	0	0	1	0	0	0	415	768	27	1	15871	1	AHNAK2	14	105420268	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1333	105420268	1929272	302	40799											
APBA2	321	genome.wustl.edu	37	chr15	29346543	29346543	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ggcccgcacccccacggccaCgaggctgaaggcagccagga	9	1	14	17	3	0	1	0	1	0	0	0	3	0	2	5	5	1	3	5	5	1	0	rs377361968		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:29346543C>T	ENST00000558402.1	+	5	1055	c.456C>T	c.(454-456)caC>caT	p.H152H	APBA2_ENST00000561069.1_Silent_p.H152H|APBA2_ENST00000558330.1_Silent_p.H152H|APBA2_ENST00000411764.1_Silent_p.H152H|APBA2_ENST00000558259.1_Silent_p.H152H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	152					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)		CCCACGGCCACGAGGCTGAAG	0.652													C|||	1	0.000199681	0	0	5008	,	,		15256	0.001		0	False		,,,				2504	0																0								C	,	0,4406		0,0,2203	38	38	38		456,456	-2.6	0	15		38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	152/738,152/750	29346543	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.456C>T	15.37:g.29346543C>T			E9PGI4|O60571|Q5XKC0	Silent	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.H152	ENST00000558402.1	37	c.456	CCDS10022.1	15																																																																																			APBA2	-	NULL	ENSG00000034053		0.652	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	-	0	26	0	C	NM_005503		29346543	1	tier1	-	no_errors	ENST00000558259	ensembl	human	known	74_37	silent	41.18	10	7	SNP	0.000	T	T	29346543	C	T	29346543	2	4	160	1	0	0	0	0	0	0	0	1	757	535	19	1		1	APBA2	15	29346543	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09		29346543	73184849	303	40800											
MTMR15	22909	genome.wustl.edu	37	chr15	31214550	31214550	+	Missense_Mutation	SNP	T	T	C	0	1	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	acaccagcacttgaagcgccTggaaccggtactcagtaaca	13	6	9	13	2	1	1	1	1	0	0	1	2	1	2	3	2	5	3	3	2	4	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:31214550T>C	ENST00000362065.4	+	8	2456	c.2165T>C	c.(2164-2166)cTg>cCg	p.L722P	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	722					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						TTGAAGCGCCTGGAACCGGTA	0.388								Direct reversal of damage																																									0													92	91	92					15																	31214550		2202	4300	6502	SO:0001583	missense	0				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.2165T>C	15.37:g.31214550T>C	ENSP00000354497:p.Leu722Pro		A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.L722P	ENST00000362065.4	37	c.2165	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519975	0.27211	.	.	ENSG00000198690	ENST00000362065	D	0.98381	-4.9	5.6	2.05	0.26809	.	0.392352	0.25572	N	0.029746	D	0.93370	0.7886	N	0.16307	0.4	0.20926	N	0.999826	B;B	0.14012	0.009;0.005	B;B	0.08055	0.003;0.003	D	0.85125	0.0971	10	0.25751	T	0.34	-7.8945	8.557	0.33487	0.0:0.4558:0.0:0.5442	.	722;722	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	P	722	ENSP00000354497:L722P	ENSP00000354497:L722P	L	+	2	0	FAN1	29001842	0.152000	0.22762	0.861000	0.33841	0.954000	0.61252	0.693000	0.25497	0.098000	0.17522	-0.376000	0.06991	CTG	FAN1	-	NULL	ENSG00000198690		0.388	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	-	0	57	0	T	NM_014967		31214550	1	tier1	-	no_errors	ENST00000362065	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.169	C	C	31214550	T	C	31214550	3	2	160	1	0	0	0	0	1	0	0	0	9981	1580	55	4	2216	4	MTMR15	15	31214550	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	1868007	31214550	71316842	304	40801											
B2M	567	genome.wustl.edu	37	chr15	45007689	45007690	+	Frame_Shift_Del	DEL	TA	TA	-																															agtcaaatttcctgaattgcTatgtgtctgggtttcatcca																										TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:45007689_45007690delTA	ENST00000558401.1	+	2	206_207	c.136_137delTA	c.(136-138)tatfs	p.Y46fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.Y46fs|B2M_ENST00000544417.1_Frame_Shift_Del_p.Y46fs|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	46	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 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)			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)		CCTGAATTGCTATGTGTCTGGG	0.401																																																	0																																										SO:0001589	frameshift_variant	0			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.136_137delTA	15.37:g.45007689_45007690delTA	ENSP00000452780:p.Tyr46fs		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y46fs	ENST00000558401.1	37	c.136_137	CCDS10113.1	15																																																																																			B2M	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000166710		0.401	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2		0	118	0	TA	NM_004048		45007690	1			no_errors	ENST00000544417	ensembl	human	known	74_37	frame_shift_del	6.67	84	6	DEL	1.000:1.000	0	-	45007690	TA	-	45007689	7	5	160	1	0	1	0	1	0	0	0	0	1245	1522	53	0	142	0	B2M	15	45007689	Frame_Shift_Del	DEL	TA	TCGA-V5-AASX-01A-11D-A387-09	13793139	45007689	57523703	305	40802											
UNC13C	440279	genome.wustl.edu	37	chr15	54306773	54306773	+	Missense_Mutation	SNP	A	A	G	1	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	agatttttccaaattgtgtcAgtcttactcagaagattttt	11	18	6	6	0	3	3	2	0	1	3	4	3	4	3	1	0	1	0	1	0	3	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:54306773A>G	ENST00000260323.11	+	1	1673	c.1673A>G	c.(1672-1674)cAg>cGg	p.Q558R	UNC13C_ENST00000545554.1_Missense_Mutation_p.Q558R|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q558R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	558					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)		AAATTGTGTCAGTCTTACTCA	0.413																																																	0													49	48	48					15																	54306773		1827	4100	5927	SO:0001583	missense	0			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.1673A>G	15.37:g.54306773A>G	ENSP00000260323:p.Gln558Arg		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.Q558R	ENST00000260323.11	37	c.1673	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273368	0.59649	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83075	-1.68;-1.68;-1.68	5.17	5.17	0.71159	.	.	.	.	.	D	0.84880	0.5570	L	0.27053	0.805	0.47698	D	0.999498	D	0.60160	0.987	D	0.67725	0.953	D	0.87005	0.2119	9	0.87932	D	0	.	14.3313	0.66559	1.0:0.0:0.0:0.0	.	558	Q8NB66	UN13C_HUMAN	R	558	ENSP00000260323:Q558R;ENSP00000438156:Q558R;ENSP00000442569:Q558R	ENSP00000260323:Q558R	Q	+	2	0	UNC13C	52094065	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	5.769000	0.68865	2.168000	0.68352	0.533000	0.62120	CAG	UNC13C	-	NULL	ENSG00000137766		0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	31	0	A	NM_173166		54306773	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	11.43	28	4	SNP	0.999	G	G	54306773	A	G	54306773	3	3	160	1	0	0	0	0	1	0	0	0	17035	188	7	4	1675	4	UNC13C	15	54306773	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	9299084	54306773	48224619	306	40803											
RNF111	54778	genome.wustl.edu	37	chr15	59383298	59383298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattaggcaatgtcaatcGtggagcatcccaggggacaa	14	7	12	8	1	1	1	1	0	0	1	3	3	2	3	1	4	1	2	1	4	5	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:59383298G>A	ENST00000557998.1	+	12	2971	c.2684G>A	c.(2683-2685)cGt>cAt	p.R895H	RNF111_ENST00000559209.1_Missense_Mutation_p.R904H|RNF111_ENST00000348370.4_Missense_Mutation_p.R895H|RNF111_ENST00000561186.1_Missense_Mutation_p.R904H|RNF111_ENST00000434298.1_Missense_Mutation_p.R904H	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	895					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)		AATGTCAATCGTGGAGCATCC	0.353																																					NSCLC(72;983 1365 10746 34387 47081)												0													131	135	134					15																	59383298		2192	4290	6482	SO:0001583	missense	0			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.2684G>A	15.37:g.59383298G>A	ENSP00000452732:p.Arg895His		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R904H	ENST00000557998.1	37	c.2711	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.381989	0.95967	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.19532	2.15;2.14	5.33	5.33	0.75918	.	0.056545	0.64402	D	0.000001	T	0.40791	0.1131	L	0.47190	1.495	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;P;D	0.65010	0.923;0.791;0.931	T	0.13019	-1.0525	10	0.87932	D	0	-22.6303	19.2207	0.93795	0.0:0.0:1.0:0.0	.	904;895;895	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	H	895;904	ENSP00000288199:R895H;ENSP00000393641:R904H	ENSP00000288199:R895H	R	+	2	0	RNF111	57170590	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.768000	0.95171	0.650000	0.86243	CGT	RNF111	-	NULL	ENSG00000157450		0.353	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	0	41	0	G	NM_017610		59383298	1	tier1	-	no_errors	ENST00000434298	ensembl	human	known	74_37	missense	8.11	68	6	SNP	1.000	A	A	59383298	G	A	59383298	3	1	160	1	0	0	0	0	1	0	0	0	13470	1145	40	1	2726	1	RNF111	15	59383298	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	5076525	59383298	43148094	307	40804											
NEO1	4756	genome.wustl.edu	37	chr15	73590936	73590936	+	Silent	SNP	A	A	C	1	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	cctgcattgccaagcacaccAttactgtcccagcaaggtga	11	8	8	14	0	0	1	0	1	0	0	1	1	1	1	4	1	5	3	4	1	3	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:73590936A>C	ENST00000339362.5	+	28	4596	c.4149A>C	c.(4147-4149)ccA>ccC	p.P1383P	NEO1_ENST00000560262.1_Silent_p.P1330P|NEO1_ENST00000261908.6_Silent_p.P1383P|NEO1_ENST00000558964.1_Silent_p.P1372P			Q92859	NEO1_HUMAN	neogenin 1	1383					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						CAAGCACACCATTACTGTCCC	0.587																																																	0													79	67	71					15																	73590936		2198	4297	6495	SO:0001819	synonymous_variant	0			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.4149A>C	15.37:g.73590936A>C			B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P1383	ENST00000339362.5	37	c.4149	CCDS10247.1	15																																																																																			NEO1	-	pfam_Neogenin_C	ENSG00000067141		0.587	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	-	0	40	0	A	NM_002499		73590936	1	tier1	-	no_errors	ENST00000261908	ensembl	human	known	74_37	silent	24.32	28	9	SNP	0.096	C	C	73590936	A	C	73590936	2	2	160	1	0	0	0	0	0	0	0	1	10375	204	8	4		4	NEO1	15	73590936	Silent	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	14207638	73590936	28940456	308	40805											
IQGAP1	8826	genome.wustl.edu	37	chr15	91034730	91034730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaacagagcttggaaccGtggacccaaagaacaaatac	17	5	9	10	1	0	2	0	0	0	2	0	4	0	4	2	2	6	2	2	2	6	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:91034730G>A	ENST00000268182.5	+	34	4538	c.4414G>A	c.(4414-4416)Gtg>Atg	p.V1472M	IQGAP1_ENST00000560738.1_Missense_Mutation_p.V900M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1472	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTTGGAACCGTGGACCCAAA	0.473																																																	0													113	103	106					15																	91034730		2198	4298	6496	SO:0001583	missense	0			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.4414G>A	15.37:g.91034730G>A	ENSP00000268182:p.Val1472Met		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.V1472M	ENST00000268182.5	37	c.4414	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433498	0.83776	.	.	ENSG00000140575	ENST00000268182	T	0.50813	0.73	6.08	5.16	0.70880	RasGAP protein, C-terminal (1);	0.066594	0.64402	D	0.000011	T	0.61640	0.2363	M	0.83223	2.63	0.80722	D	1	P;P	0.52577	0.921;0.954	B;P	0.50192	0.36;0.634	T	0.69580	-0.5107	10	0.87932	D	0	-17.6264	14.2327	0.65903	0.0708:0.0:0.9292:0.0	.	93;1472	B4DNP4;P46940	.;IQGA1_HUMAN	M	1472	ENSP00000268182:V1472M	ENSP00000268182:V1472M	V	+	1	0	IQGAP1	88835734	1.000000	0.71417	0.925000	0.36789	0.990000	0.78478	5.561000	0.67339	1.579000	0.49836	0.655000	0.94253	GTG	IQGAP1	-	pfam_RasGAP_C	ENSG00000140575		0.473	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	-	0	52	0	G	NM_003870		91034730	1	tier1	-	no_errors	ENST00000268182	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.996	A	A	91034730	G	A	91034730	3	1	160	1	0	0	0	0	1	0	0	0	7841	1145	40	1	4548	1	IQGAP1	15	91034730	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	17443794	91034730	11496662	309	40806											
LRRK1	79705	genome.wustl.edu	37	chr15	101606295	101606295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacatgctacatacgcccGgtgctgcctccgacaggtct	8	8	10	15	3	1	1	0	0	1	1	2	2	2	1	3	2	5	2	3	2	2	2	rs377202593		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:101606295G>A	ENST00000388948.3	+	32	6012	c.5653G>A	c.(5653-5655)Ggt>Agt	p.G1885S	LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000284395.5_Missense_Mutation_p.G1882S|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACATACGCCCGGTGCTGCCTC	0.632																																																	0								G	SER/GLY	0,4300		0,0,2150	96	104	101		5653	-10.7	0	15		101	1,8519		0,1,4259	no	missense	LRRK1	NM_024652.3	56	0,1,6409	AA,AG,GG		0.0117,0.0,0.0078	benign	1885/2016	101606295	1,12819	2150	4260	6410	SO:0001583	missense	0			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.5653G>A	15.37:g.101606295G>A	ENSP00000373600:p.Gly1885Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.G1885S	ENST00000388948.3	37	c.5653	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	G	0.526	-0.860207	0.02610	0.0	1.17E-4	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.70986	-0.51;-0.53	5.35	-10.7	0.00240	.	1.649450	0.02641	N	0.105344	T	0.39462	0.1079	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26292	-1.0107	10	0.11182	T	0.66	.	4.6206	0.12447	0.5649:0.0862:0.2641:0.0848	.	1885	Q38SD2	LRRK1_HUMAN	S	1885;1882;576;439	ENSP00000373600:G1885S;ENSP00000284395:G1882S	ENSP00000284395:G1882S	G	+	1	0	LRRK1	99423818	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.094000	0.15107	-2.418000	0.00566	-1.610000	0.00802	GGT	LRRK1	-	NULL	ENSG00000154237		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2		0	31	0	G	NM_024652		101606295	1			no_errors	ENST00000388948	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.000	A	A	101606295	G	A	101606295	3	1	160	1	0	0	0	0	1	0	0	0	9067	1116	39	1	5775	1	LRRK1	15	101606295	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	10571565	101606295	925097	310	40807											
PCSK6	5046	genome.wustl.edu	37	chr15	101845524	101845524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttccgttcgcacagcCggttggacttcaccatctcg	7	10	10	14	4	2	1	1	0	1	1	5	2	3	2	3	2	2	4	3	2	0	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:101845524C>T	ENST00000348070.1	-	23	2845	c.2846G>A	c.(2845-2847)cGg>cAg	p.R949Q	RP11-299G20.2_ENST00000558838.1_RNA|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R936Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	950	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCGCACAGCCGGTTGGACTT	0.597																																																	0													58	62	61					15																	101845524		2071	4226	6297	SO:0001583	missense	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2846G>A	15.37:g.101845524C>T	ENSP00000305056:p.Arg949Gln		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.R949Q	ENST00000348070.1	37	c.2846		15	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410270	0.62399	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T	0.45668	0.89;0.89	4.95	3.92	0.45320	PLAC (2);Growth factor, receptor (1);	0.250905	0.30528	N	0.009432	T	0.22244	0.0536	N	0.22421	0.69	0.80722	D	1	P;D;P	0.53151	0.844;0.958;0.895	B;B;B	0.41299	0.196;0.353;0.345	T	0.02263	-1.1186	10	0.18710	T	0.47	.	4.3965	0.11365	0.0:0.7214:0.0:0.2786	.	950;781;936	P29122;Q59H04;E7EM82	PCSK6_HUMAN;.;.	Q	949;936;780	ENSP00000305056:R949Q;ENSP00000351193:R936Q	ENSP00000305056:R949Q	R	-	2	0	PCSK6	99663047	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.308000	0.51896	2.300000	0.77407	0.650000	0.86243	CGG	PCSK6	-	pfam_PLAC,superfamily_Growth_fac_rcpt_N_dom,pfscan_PLAC	ENSG00000140479		0.597	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		-	0	59	0	C	NM_002570		101845524	-1	tier1	-	no_errors	ENST00000348070	ensembl	human	known	74_37	missense	14.04	49	8	SNP	0.999	T	T	101845524	C	T	101845524	3	4	160	1	0	0	0	0	1	0	0	0	11643	652	23	1	64	1	PCSK6	15	101845524	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	239229	101845524	685868	311	40808											
TXNDC11	51061	genome.wustl.edu	37	chr16	11785933	11785933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtactccaaggccacttcGgtgatctgaaatacagggca	11	10	10	10	1	1	2	0	2	1	0	3	2	2	2	2	3	2	2	2	3	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:11785933G>A	ENST00000356957.3	-	9	1301	c.1194C>T	c.(1192-1194)acC>acT	p.T398T	TXNDC11_ENST00000283033.5_Silent_p.T371T|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	398					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGGCCACTTCGGTGATCTGAA	0.557																																																	0													47	45	45					16																	11785933		2165	4217	6382	SO:0001819	synonymous_variant	0			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1194C>T	16.37:g.11785933G>A			O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.T398	ENST00000356957.3	37	c.1194		16																																																																																			TXNDC11	-	NULL	ENSG00000153066		0.557	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1		0	49	0	G	NM_015914		11785933	-1			no_errors	ENST00000356957	ensembl	human	known	74_37	silent	6.82	41	3	SNP	1.000	A	A	11785933	G	A	11785933	2	1	160	1	0	0	0	0	0	0	0	1	16841	1103	39	1		1	TXNDC11	16	11785933	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09		11785933	78568820	312	40809											
SMG1	23049	genome.wustl.edu	37	chr16	18872019	18872019	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgatcctccagcaagtaGattgatattttctcctggta	9	17	7	8	0	1	3	0	2	1	1	4	3	3	3	3	1	1	3	3	1	4	8			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:18872019G>A	ENST00000446231.2	-	26	4187	c.3775C>T	c.(3775-3777)Cta>Tta	p.L1259L	SMG1_ENST00000389467.3_Silent_p.L1259L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1259	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCAGCAAGTAGATTGATATTT	0.299																																																	0													19	18	19					16																	18872019		1612	3622	5234	SO:0001819	synonymous_variant	0			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.3775C>T	16.37:g.18872019G>A			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L1259	ENST00000446231.2	37	c.3775	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000157106		0.299	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	-	0	413	0	G	NM_015092		18872019	-1	tier1	-	no_errors	ENST00000389467	ensembl	human	known	74_37	silent	9.02	464	46	SNP	0.999	A	A	18872019	G	A	18872019	2	1	160	1	0	0	0	0	0	0	0	1	14840	933	33	3		3	SMG1	16	18872019	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	7086086	18872019	71482734	313	40810											
ACSM5	54988	genome.wustl.edu	37	chr16	20429480	20429480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggaagcagtccaggaagGcagccaatgtgctggggggt	9	6	19	7	0	0	0	0	0	0	0	1	2	1	2	2	7	3	3	2	7	3	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:20429480G>A	ENST00000331849.4	+	3	451	c.304G>A	c.(304-306)Gca>Aca	p.A102T	ACSM5_ENST00000575584.1_Missense_Mutation_p.A102T	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	102					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						GTCCAGGAAGGCAGCCAATGT	0.627																																																	0													67	56	60					16																	20429480		2203	4300	6503	SO:0001583	missense	0				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.304G>A	16.37:g.20429480G>A	ENSP00000327916:p.Ala102Thr		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A102T	ENST00000331849.4	37	c.304	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782926	0.49891	.	.	ENSG00000183549	ENST00000331849	T	0.41758	0.99	4.75	3.77	0.43336	AMP-dependent synthetase/ligase (1);	0.097634	0.45126	D	0.000384	T	0.34600	0.0903	L	0.35644	1.08	0.30218	N	0.797104	P	0.35774	0.519	B	0.39805	0.31	T	0.21552	-1.0242	10	0.20519	T	0.43	-18.6101	13.168	0.59581	0.0802:0.0:0.9198:0.0	.	102	Q6NUN0	ACSM5_HUMAN	T	102	ENSP00000327916:A102T	ENSP00000327916:A102T	A	+	1	0	ACSM5	20336981	0.964000	0.33143	1.000000	0.80357	0.724000	0.41520	1.917000	0.39996	2.465000	0.83290	0.655000	0.94253	GCA	ACSM5	-	pfam_AMP-dep_Synth/Lig	ENSG00000183549		0.627	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	-	0	107	0	G	NM_017888		20429480	1	tier1	-	no_errors	ENST00000331849	ensembl	human	known	74_37	missense	5.50	103	6	SNP	1.000	A	A	20429480	G	A	20429480	3	1	160	1	0	0	0	0	1	0	0	0	187	1203	42	3	310	3	ACSM5	16	20429480	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1557461	20429480	69925273	314	40811											
CDR2	1039	genome.wustl.edu	37	chr16	22358784	22358784	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaacatctcttccagcagGctctggctgggctctttgaa	8	11	11	11	0	3	1	0	1	3	0	5	2	4	2	1	4	2	4	1	4	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:22358784G>A	ENST00000268383.2	-	5	1174	c.867C>T	c.(865-867)agC>agT	p.S289S		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	289						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CTTCCAGCAGGCTCTGGCTGG	0.522																																																	0													37	37	37					16																	22358784		2197	4300	6497	SO:0001819	synonymous_variant	0			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"Yo paraneoplastic antigen"	117340	"cerebellar degeneration-related protein (62kD)"			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.867C>T	16.37:g.22358784G>A			A8K8A8|Q13977	Silent	SNP	NULL	p.S289	ENST00000268383.2	37	c.867	CCDS32404.1	16																																																																																			CDR2	-	NULL	ENSG00000140743		0.522	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2	HGNC	protein_coding	OTTHUMT00000430081.1		0	91	0	G			22358784	-1			no_errors	ENST00000268383	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.998	A	A	22358784	G	A	22358784	2	1	160	1	0	0	0	0	0	0	0	1	3179	1194	42	3		3	CDR2	16	22358784	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1929304	22358784	67995969	315	40812											
SH2B1	25970	genome.wustl.edu	37	chr16	28877611	28877611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgaggctgccttctccCgccgttttgctgagctcttc	2	12	12	15	3	2	1	0	1	2	0	4	2	2	1	4	2	3	4	4	2	0	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:28877611C>T	ENST00000322610.8	+	4	635	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.R66C|SH2B1_ENST00000395532.4_Missense_Mutation_p.R66C|SH2B1_ENST00000545570.1_Intron|RP11-22P6.2_ENST00000567731.1_RNA|SH2B1_ENST00000359285.5_Missense_Mutation_p.R66C|SH2B1_ENST00000538342.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	66	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Required for self-association.				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						TGCCTTCTCCCGCCGTTTTGC	0.697																																																	0													21	23	22					16																	28877611		2196	4299	6495	SO:0001583	missense	0			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.196C>T	16.37:g.28877611C>T	ENSP00000321221:p.Arg66Cys		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.R66C	ENST00000322610.8	37	c.196	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922170	0.73213	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.50277	0.75;0.76;0.76;0.76	4.71	3.72	0.42706	Phenylalanine zipper (2);	0.077733	0.52532	D	0.000071	T	0.48132	0.1483	L	0.50333	1.59	0.42236	D	0.991913	P;P;D	0.60575	0.894;0.894;0.988	B;B;P	0.47206	0.312;0.312;0.541	T	0.53774	-0.8391	10	0.72032	D	0.01	-27.2947	13.3937	0.60838	0.0:0.8401:0.1599:0.0	.	66;66;66	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	C	66	ENSP00000321221:R66C;ENSP00000352232:R66C;ENSP00000378903:R66C;ENSP00000337163:R66C	ENSP00000321221:R66C	R	+	1	0	SH2B1	28785112	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.244000	0.58728	0.908000	0.36671	0.455000	0.32223	CGC	SH2B1	-	pfam_Phe_ZIP,superfamily_Phe_ZIP	ENSG00000178188		0.697	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	-	0	44	0	C	NM_015503		28877611	1	tier1	-	no_errors	ENST00000322610	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	28877611	C	T	28877611	3	4	160	1	0	0	0	0	1	0	0	0	14272	652	23	1	198	1	SH2B1	16	28877611	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	6518827	28877611	61477142	316	40813											
FUS	2521	genome.wustl.edu	37	chr16	31193931	31193931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtggttatagccagtccacgGacacttcaggctatggccag	9	9	12	11	1	1	0	1	0	0	0	2	1	2	1	3	4	1	2	3	4	3	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:31193931G>C	ENST00000254108.7	+	3	241	c.136G>C	c.(136-138)Gac>Cac	p.D46H	FUS_ENST00000568685.1_Missense_Mutation_p.D46H|FUS_ENST00000380244.3_Missense_Mutation_p.D46H|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	46	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.D46H(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		CCAGTCCACGGACACTTCAGG	0.547			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																			Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	1	Substitution - Missense(1)	kidney(1)											103	96	98					16																	31193931		2197	4300	6497	SO:0001583	missense	0			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.136G>C	16.37:g.31193931G>C	ENSP00000254108:p.Asp46His		Q9H4A8	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.D46H	ENST00000254108.7	37	c.136	CCDS10707.1	16	.	.	.	.	.	.	.	.	.	.	G	19.29	3.800168	0.70567	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	T	0.80304	-1.36	6.11	6.11	0.99139	.	0.261168	0.36893	N	0.002345	D	0.88396	0.6425	M	0.64997	1.995	0.42822	D	0.993991	D;P;P;P;P	0.71674	0.998;0.612;0.874;0.8;0.8	D;B;P;B;B	0.64595	0.927;0.417;0.621;0.417;0.319	D	0.88461	0.3055	10	0.87932	D	0	-18.9584	19.5024	0.95100	0.0:0.0:1.0:0.0	.	46;46;46;46;46	B4DVJ7;Q6IBQ5;P35637-2;P35637;E7EUX0	.;.;.;FUS_HUMAN;.	H	46	ENSP00000254108:D46H	ENSP00000254108:D46H	D	+	1	0	FUS	31101432	1.000000	0.71417	0.979000	0.43373	0.543000	0.35085	5.495000	0.66912	2.907000	0.99374	0.609000	0.83330	GAC	FUS	-	NULL	ENSG00000089280		0.547	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FUS	HGNC	protein_coding	OTTHUMT00000255526.2	-	0	70	0	G	NM_004960		31193931	1	tier1	-	no_errors	ENST00000254108	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.999	C	C	31193931	G	C	31193931	3	2	160	1	0	0	0	0	1	0	0	0	6124	1174	41	5	146	5	FUS	16	31193931	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2316320	31193931	59160822	317	40814											
SALL1	6299	genome.wustl.edu	37	chr16	51171162	51171162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctctccaggtttcccGtcagcccactaacaggtgag	8	8	11	14	1	2	1	1	1	1	0	4	2	3	2	4	3	3	1	4	3	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:51171162G>A	ENST00000251020.4	-	3	3869	c.3836C>T	c.(3835-3837)aCg>aTg	p.T1279M	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Missense_Mutation_p.T1182M|SALL1_ENST00000541611.1_Missense_Mutation_p.T102M	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1279					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)			CAGGTTTCCCGTCAGCCCACT	0.582																																					GBM(103;1352 1446 1855 4775 8890)												0													72	69	70					16																	51171162		2198	4300	6498	SO:0001583	missense	0			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.3836C>T	16.37:g.51171162G>A	ENSP00000251020:p.Thr1279Met		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1279M	ENST00000251020.4	37	c.3836	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120872	0.56613	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.56103	0.48;0.48;0.48	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.962;0.973	T	0.66280	-0.5963	10	0.59425	D	0.04	.	20.0486	0.97617	0.0:0.0:1.0:0.0	.	1279;102	Q9NSC2;F5H733	SALL1_HUMAN;.	M	1279;1182;1243;102	ENSP00000251020:T1279M;ENSP00000407914:T1182M;ENSP00000442827:T102M	ENSP00000251020:T1279M	T	-	2	0	SALL1	49728663	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	8.040000	0.89188	2.752000	0.94435	0.643000	0.83706	ACG	SALL1	-	NULL	ENSG00000103449		0.582	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	72	0	G	NM_002968		51171162	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	51171162	G	A	51171162	3	1	160	1	0	0	0	0	1	0	0	0	13855	1145	40	1	142	1	SALL1	16	51171162	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	19977231	51171162	39183591	318	40815											
SALL1	6299	genome.wustl.edu	37	chr16	51173271	51173271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaaaccattggcaaactcGcttgggaccgctctctgtgg	9	9	11	12	2	1	0	0	0	1	0	3	2	1	1	2	3	2	3	2	3	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:51173271G>A	ENST00000251020.4	-	2	2895	c.2862C>T	c.(2860-2862)agC>agT	p.S954S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.S857S|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	954					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.S954S(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)			TGGCAAACTCGCTTGGGACCG	0.517																																					GBM(103;1352 1446 1855 4775 8890)												1	Substitution - coding silent(1)	lung(1)											71	55	61					16																	51173271		2198	4300	6498	SO:0001819	synonymous_variant	0			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.2862C>T	16.37:g.51173271G>A			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S954	ENST00000251020.4	37	c.2862	CCDS10747.1	16																																																																																			SALL1	-	NULL	ENSG00000103449		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2		0	25	0	G	NM_002968		51173271	-1			no_errors	ENST00000251020	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.020	A	A	51173271	G	A	51173271	2	1	160	1	0	0	0	0	0	0	0	1	13855	1078	38	1		1	SALL1	16	51173271	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2109	51173271	39181482	319	40816											
MMP2	4313	genome.wustl.edu	37	chr16	55513515	55513515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagttccccggcgatgtcGcccccaaaacggacaaagag	12	5	10	14	4	1	1	1	0	0	1	3	3	2	2	4	2	1	1	4	2	4	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:55513515G>A	ENST00000219070.4	+	1	633	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	MMP2_ENST00000437642.2_5'Flank|MMP2_ENST00000543485.1_5'Flank|MMP2_ENST00000570308.1_Intron	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	42					angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CGGCGATGTCGCCCCCAAAAC	0.642																																																	0													32	30	31					16																	55513515		2198	4299	6497	SO:0001583	missense	0				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.124G>A	16.37:g.55513515G>A	ENSP00000219070:p.Ala42Thr		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.A42T	ENST00000219070.4	37	c.124	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955613	0.34471	.	.	ENSG00000087245	ENST00000219070	T	0.35421	1.31	4.84	-0.221	0.13126	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.440276	0.26136	N	0.026140	T	0.15219	0.0367	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11842	-1.0571	10	0.11485	T	0.65	.	1.0555	0.01589	0.1973:0.1223:0.2511:0.4294	.	42	P08253	MMP2_HUMAN	T	42	ENSP00000219070:A42T	ENSP00000219070:A42T	A	+	1	0	MMP2	54071016	0.976000	0.34144	0.972000	0.41901	0.971000	0.66376	1.169000	0.31871	0.073000	0.16731	0.655000	0.94253	GCC	MMP2	-	superfamily_Peptidoglycan-bd-like	ENSG00000087245		0.642	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	-	0	54	0	G			55513515	1	tier1	-	no_errors	ENST00000219070	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.984	A	A	55513515	G	A	55513515	3	1	160	1	0	0	0	0	1	0	0	0	9696	1087	38	1	126	1	MMP2	16	55513515	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	4340244	55513515	34841238	320	40817											
KATNB1	10300	genome.wustl.edu	37	chr16	57785554	57785554	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgccgtgtcctccctcaggGgcacagccaggccgtgcggt	5	7	14	15	3	1	0	1	0	0	0	3	0	3	0	5	4	3	1	5	4	0	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:57785554G>T	ENST00000379661.3	+	7	826	c.434G>T	c.(433-435)gGg>gTg	p.G145V		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)				CTCCCTCAGGGGCACAGCCAG	0.647																																																	0													58	54	56					16																	57785554		2198	4300	6498	SO:0001630	splice_region_variant	0			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.433-1G>T	16.37:g.57785554G>T				Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G145V	ENST00000379661.3	37	c.434	CCDS10788.1	16	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020012	0.93462	.	.	ENSG00000140854	ENST00000379661	T	0.70516	-0.49	4.81	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.107668	0.64402	D	0.000006	D	0.84611	0.5510	M	0.86343	2.81	0.80722	D	1	D	0.58620	0.983	P	0.60609	0.877	D	0.88089	0.2812	10	0.87932	D	0	-11.9869	16.8582	0.86011	0.0:0.0:1.0:0.0	.	145	Q9BVA0	KTNB1_HUMAN	V	145	ENSP00000368982:G145V	ENSP00000368982:G145V	G	+	2	0	KATNB1	56343055	1.000000	0.71417	0.985000	0.45067	0.967000	0.64934	9.397000	0.97276	2.202000	0.70862	0.561000	0.74099	GGG	KATNB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000140854		0.647	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNB1	HGNC	protein_coding	OTTHUMT00000257343.3		0	59	0	G		Missense_Mutation	57785554	1			no_errors	ENST00000379661	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	57785554	G	T	57785554	5	4	160	1	0	0	0	0	0	0	1	0	8014	1246	43	3	456	3	KATNB1	16	57785554	Splice_Site	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2272039	57785554	32569199	321	40818											
KIFC3	3801	genome.wustl.edu	37	chr16	57794989	57794989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgctgcagtccacgcctCgcaccgtcacgatgagcagc	7	7	11	16	4	1	1	1	1	0	0	3	2	2	1	3	0	4	4	3	0	0	0	rs201690727	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:57794989C>T	ENST00000379655.4	-	15	2224	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	KIFC3_ENST00000539578.1_Missense_Mutation_p.R598Q|KIFC3_ENST00000562903.1_Missense_Mutation_p.R517Q|KIFC3_ENST00000541240.1_Missense_Mutation_p.R678Q|KIFC3_ENST00000540079.2_Missense_Mutation_p.R554Q|KIFC3_ENST00000445690.2_Missense_Mutation_p.R656Q|KIFC3_ENST00000421376.2_Missense_Mutation_p.R517Q|KIFC3_ENST00000465878.2_Missense_Mutation_p.R517Q|KIFC3_ENST00000543930.1_Missense_Mutation_p.R514Q	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	656	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTCCACGCCTCGCACCGTCAC	0.652													C|||	2	0.000399361	0	0	5008	,	,		20546	0.002		0	False		,,,				2504	0																0								C	GLN/ARG,GLN/ARG,GLN/ARG	1,4395	4.2+/-10.8	0,1,2197	78	69	72		1550,1967,1967	2.2	0.4	16		72	0,8598		0,0,4299	yes	missense,missense,missense	KIFC3	NM_001130099.1,NM_001130100.1,NM_005550.3	43,43,43	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	517/688,656/827,656/834	57794989	1,12993	2198	4299	6497	SO:0001583	missense	0			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1967G>A	16.37:g.57794989C>T	ENSP00000368976:p.Arg656Gln		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R656Q	ENST00000379655.4	37	c.1967	CCDS10789.2	16	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.636	1.137701	0.21123	2.27E-4	0.0	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.21	2.17	0.27698	Kinesin, motor domain (4);	0.533033	0.20814	N	0.085199	T	0.56262	0.1973	L	0.28400	0.85	0.28072	N	0.932529	B;B;B;B;B;B	0.19817	0.023;0.039;0.002;0.004;0.019;0.004	B;B;B;B;B;B	0.09377	0.002;0.004;0.002;0.003;0.004;0.003	T	0.38200	-0.9672	10	0.14252	T	0.57	.	8.413	0.32655	0.0:0.6918:0.0:0.3082	.	678;598;514;554;656;517	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	Q	656;656;517;678;554;514;598	ENSP00000368976:R656Q;ENSP00000401696:R656Q;ENSP00000396399:R517Q;ENSP00000442008:R678Q;ENSP00000438805:R554Q;ENSP00000444012:R514Q;ENSP00000444884:R598Q	ENSP00000368976:R656Q	R	-	2	0	KIFC3	56352490	0.005000	0.15991	0.421000	0.26609	0.369000	0.29798	0.310000	0.19356	0.221000	0.20879	0.205000	0.17691	CGA	KIFC3	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000140859		0.652	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2		0	38	0	C	NM_005550		57794989	-1			no_errors	ENST00000379655	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.604	T	T	57794989	C	T	57794989	3	4	160	1	0	0	0	0	1	0	0	0	8341	884	31	1	563	1	KIFC3	16	57794989	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	9435	57794989	32559764	322	40819											
CDH8	1006	genome.wustl.edu	37	chr16	61854976	61854976	+	Missense_Mutation	SNP	T	T	C	0	1	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	cttcacccttcctattgcagTgccaagaaccacatcttccg	9	11	5	16	1	2	1	1	0	1	1	4	1	4	1	5	0	3	1	5	0	3	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:61854976T>C	ENST00000577390.1	-	6	1831	c.877A>G	c.(877-879)Act>Gct	p.T293A	CDH8_ENST00000577730.1_Missense_Mutation_p.T293A|CDH8_ENST00000584337.1_Missense_Mutation_p.T293A|CDH8_ENST00000299345.6_Missense_Mutation_p.T293A	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	293	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)		CCTATTGCAGTGCCAAGAACC	0.398																																																	0													127	96	106					16																	61854976		2203	4300	6503	SO:0001583	missense	0			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.877A>G	16.37:g.61854976T>C	ENSP00000462701:p.Thr293Ala		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T293A	ENST00000577390.1	37	c.877	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	T	15.17	2.755424	0.49362	.	.	ENSG00000150394	ENST00000299345	T	0.02709	4.19	5.96	4.88	0.63580	Cadherin (3);Cadherin-like (1);	0.207633	0.53938	D	0.000054	T	0.03739	0.0106	L	0.58428	1.81	0.32972	D	0.522539	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.05209	-1.0899	10	0.66056	D	0.02	.	4.8391	0.13481	0.0:0.2524:0.0:0.7476	.	109;293	Q3LID3;P55286	.;CADH8_HUMAN	A	293	ENSP00000299345:T293A	ENSP00000299345:T293A	T	-	1	0	CDH8	60412477	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.700000	0.47085	2.284000	0.76573	0.528000	0.53228	ACT	CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150394		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	-	0	60	0	T	NM_001796		61854976	-1	tier1	-	no_errors	ENST00000577390	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	C	C	61854976	T	C	61854976	3	2	160	1	0	0	0	0	1	0	0	0	3123	1696	59	4	1550	4	CDH8	16	61854976	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	4059987	61854976	28499777	323	40820											
CES8	283848	genome.wustl.edu	37	chr16	67039242	67039242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccgtatgatggacataGttcaagatgccactttcgtg	12	11	10	8	2	1	2	1	1	0	1	2	4	1	3	2	1	2	2	2	1	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:67039242G>T	ENST00000326686.5	+	11	1261	c.1261G>T	c.(1261-1263)Gtt>Ttt	p.V421F	CES4A_ENST00000540947.2_Missense_Mutation_p.V421F|CES4A_ENST00000540579.1_Missense_Mutation_p.V323F|CES4A_ENST00000535696.1_Missense_Mutation_p.V327F|CES4A_ENST00000398354.1_Missense_Mutation_p.V394F|CES4A_ENST00000541479.1_Missense_Mutation_p.V417F|CES4A_ENST00000338718.4_Missense_Mutation_p.V444F			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	421						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GATGGACATAGTTCAAGATGC	0.527																																																	0													130	134	133					16																	67039242		2119	4240	6359	SO:0001583	missense	0			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.1261G>T	16.37:g.67039242G>T	ENSP00000314145:p.Val421Phe		A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V421F	ENST00000326686.5	37	c.1261		16	.	.	.	.	.	.	.	.	.	.	g	10.76	1.441255	0.25900	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.67698	-0.28;0.29;-0.28;0.29;3.16;0.29;3.16;-0.28	4.06	2.02	0.26589	Carboxylesterase, type B (1);	0.703509	0.11591	N	0.548711	T	0.44829	0.1312	N	0.10916	0.065	0.26478	N	0.97517	P;P;B;B	0.39157	0.662;0.662;0.002;0.083	B;B;B;B	0.36092	0.217;0.169;0.017;0.028	T	0.28964	-1.0027	10	0.52906	T	0.07	.	8.8377	0.35121	0.1943:0.0:0.8057:0.0	.	327;444;421;417	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	F	421;417;444;394;421;357;323;327	ENSP00000444052:V421F;ENSP00000443175:V417F;ENSP00000340714:V444F;ENSP00000381397:V394F;ENSP00000314145:V421F;ENSP00000441103:V357F;ENSP00000441907:V323F;ENSP00000441644:V327F	ENSP00000314145:V421F	V	+	1	0	CES4A	65596743	0.003000	0.15002	0.019000	0.16419	0.061000	0.15899	0.688000	0.25422	0.450000	0.26774	-0.342000	0.07992	GTT	CES4A	-	pfam_CarbesteraseB	ENSG00000172824		0.527	CES4A-201	KNOWN	basic|appris_principal	protein_coding	CES4A	HGNC	protein_coding		-	0	72	0	G	NM_173815		67039242	1	tier1	-	no_errors	ENST00000326686	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.921	T	T	67039242	G	T	67039242	3	4	160	1	0	0	0	0	1	0	0	0	3280	1029	36	3	1384	3	CES8	16	67039242	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	5184266	67039242	23315511	324	40821											
HAS3	3038	genome.wustl.edu	37	chr16	69148882	69148882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccaagatctttgccattGctaccatcaacaaatctggc	11	10	7	13	1	3	1	1	0	2	1	3	1	3	1	3	2	4	1	3	2	4	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:69148882G>A	ENST00000306560.1	+	4	1531	c.1375G>A	c.(1375-1377)Gct>Act	p.A459T	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.A459T	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	459					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)		CTTTGCCATTGCTACCATCAA	0.527																																																	0													148	139	142					16																	69148882		2198	4300	6498	SO:0001583	missense	0			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.1375G>A	16.37:g.69148882G>A	ENSP00000304440:p.Ala459Thr		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.A459T	ENST00000306560.1	37	c.1375	CCDS10871.1	16	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331851	0.41297	.	.	ENSG00000103044	ENST00000306560	T	0.47177	0.85	6.06	6.06	0.98353	.	0.163420	0.56097	D	0.000021	T	0.44891	0.1315	M	0.65975	2.015	0.40444	D	0.980078	P	0.41313	0.745	B	0.35550	0.205	T	0.47129	-0.9141	10	0.39692	T	0.17	-21.104	13.4323	0.61062	0.0719:0.0:0.9281:0.0	.	459	O00219	HAS3_HUMAN	T	459	ENSP00000304440:A459T	ENSP00000304440:A459T	A	+	1	0	HAS3	67706383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.316000	0.59178	2.882000	0.98803	0.655000	0.94253	GCT	HAS3	-	NULL	ENSG00000103044		0.527	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000268898.2	-	0	54	0	G	NM_138612		69148882	1	tier1	-	no_errors	ENST00000306560	ensembl	human	known	74_37	missense	12.73	48	7	SNP	1.000	A	A	69148882	G	A	69148882	3	1	160	1	0	0	0	0	1	0	0	0	6990	1319	46	3	1385	3	HAS3	16	69148882	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2109640	69148882	21205871	325	40822											
IL34	146433	genome.wustl.edu	37	chr16	70690565	70690565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagggggtgttcagaatcGccaacgtcaccaggctggtg	9	7	15	10	3	2	1	2	0	0	1	3	2	2	1	2	4	1	2	2	4	2	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:70690565G>A	ENST00000288098.2	+	3	606	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	IL34_ENST00000429149.2_Missense_Mutation_p.A75T|IL34_ENST00000569641.1_3'UTR|IL34_ENST00000566361.1_Missense_Mutation_p.A50T	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	75					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTTCAGAATCGCCAACGTCAC	0.587																																																	0													85	80	81					16																	70690565		2198	4300	6498	SO:0001583	missense	0			BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.223G>A	16.37:g.70690565G>A	ENSP00000288098:p.Ala75Thr		B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	prints_IL-34	p.A75T	ENST00000288098.2	37	c.223	CCDS10895.1	16	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201714	0.38905	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.48836	0.8;0.8	5.46	4.5	0.54988	.	0.166921	0.41938	D	0.000796	T	0.50837	0.1639	L	0.33710	1.025	0.35536	D	0.802621	D;D	0.76494	0.999;0.999	D;D	0.66602	0.945;0.945	T	0.59852	-0.7376	10	0.42905	T	0.14	-28.9976	7.1944	0.25845	0.0866:0.0:0.7454:0.168	.	75;75	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	T	75	ENSP00000397863:A75T;ENSP00000288098:A75T	ENSP00000288098:A75T	A	+	1	0	IL34	69248066	0.989000	0.36119	0.819000	0.32651	0.624000	0.37722	2.059000	0.41384	1.301000	0.44836	0.511000	0.50034	GCC	IL34	-	prints_IL-34	ENSG00000157368		0.587	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL34	HGNC	protein_coding	OTTHUMT00000268971.3	-	0	52	0	G	NM_152456		70690565	1	tier1	-	no_errors	ENST00000288098	ensembl	human	known	74_37	missense	42.86	16	12	SNP	0.821	A	A	70690565	G	A	70690565	3	1	160	1	0	0	0	0	1	0	0	0	7721	1087	38	1	233	1	IL34	16	70690565	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1541683	70690565	19664188	326	40823											
PKD1L2	114780	genome.wustl.edu	37	chr16	81209272	81209272	+	RNA	SNP	T	T	C	0	1	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	ggtggcagaaataactactgTcagcacaaagtcattgttct	13	11	9	8	0	3	1	2	0	1	1	3	1	3	1	0	2	3	3	0	2	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:81209272T>C	ENST00000527937.1	-	0	402				PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_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						ATAACTACTGTCAGCACAAAG	0.522																																																	0													114	113	113					16																	81209272		2061	4208	6269			0			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.81209272T>C			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.T841A	ENST00000527937.1	37	c.2521		16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.680|2.680	-0.275645|-0.275645	0.05679|0.05679	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000526632|ENST00000531391;ENST00000337114;ENST00000527937	.|T;T;T	.|0.70399	.|-0.48;-0.48;1.43	4.82|4.82	1.26|1.26	0.21427|0.21427	.|Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	.|0.930262	.|0.09060	.|N	.|0.854518	T|T	0.48624|0.48624	0.1510|0.1510	.|.	.|.	.|.	0.20074|0.20074	N|N	0.999937|0.999937	.|B;B;B	.|0.27882	.|0.192;0.002;0.007	.|B;B;B	.|0.23018	.|0.043;0.004;0.007	T|T	0.28038|0.28038	-1.0056|-1.0056	4|9	.|0.18276	.|T	.|0.48	-1.9396|-1.9396	4.2875|4.2875	0.10862|0.10862	0.0:0.1857:0.3402:0.4741|0.0:0.1857:0.3402:0.4741	.|.	.|97;841;841	.|Q7Z442-6;Q7Z442-3;Q7Z442	.|.;.;PK1L2_HUMAN	G|A	368|156;841;97	.|ENSP00000436309:T156A;ENSP00000337397:T841A;ENSP00000432818:T97A	.|ENSP00000337397:T841A	D|T	-|-	2|1	0|0	PKD1L2|PKD1L2	79766773|79766773	0.972000|0.972000	0.33761|0.33761	0.998000|0.998000	0.56505|0.56505	0.602000|0.602000	0.36980|0.36980	0.735000|0.735000	0.26115|0.26115	0.188000|0.188000	0.20168|0.20168	0.374000|0.374000	0.22700|0.22700	GAC|ACA	PKD1L2	-	pfam_PKD/REJ-like,superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like	ENSG00000166473		0.522	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387978.1	-	0	59	0	T			81209272	-1	tier1	-	no_errors	ENST00000337114	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.844	C	C	81209272	T	C	81209272	1	2	160	0	1	0	0	0	0	0	0	0	12004	1667	58	4		4	PKD1L2	16	81209272	RNA	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	10518707	81209272	9145481	327	40824											
ADAD2	161931	genome.wustl.edu	37	chr16	84230517	84230517	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcaggcagctgtctctcctCctggaccagcagggcctggg	5	7	14	15	1	1	0	0	0	1	0	4	1	3	1	4	4	2	4	4	4	0	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:84230517C>T	ENST00000315906.5	+	10	1741	c.1689C>T	c.(1687-1689)ctC>ctT	p.L563L	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000268624.3_Silent_p.L645L|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	563	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTCTCTCCTCCTGGACCAGC	0.672																																																	0													11	12	12					16																	84230517		2187	4288	6475	SO:0001819	synonymous_variant	0			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1689C>T	16.37:g.84230517C>T			B2RCL6|Q8NA94	Silent	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.L645	ENST00000315906.5	37	c.1935	CCDS45536.1	16																																																																																			ADAD2	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000140955		0.672	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	HGNC	protein_coding	OTTHUMT00000433385.1	-	0	144	0	C	NM_139174		84230517	1	tier1	-	no_errors	ENST00000268624	ensembl	human	known	74_37	silent	7.21	103	8	SNP	0.960	T	T	84230517	C	T	84230517	2	4	160	1	0	0	0	0	0	0	0	1	232	842	30	3		3	ADAD2	16	84230517	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	3021245	84230517	6124236	328	40825											
ZC3H18	124245	genome.wustl.edu	37	chr16	88691110	88691110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaagccaggagaccctcggGaagccaggaggaaggagcgg	12	1	17	11	2	0	1	0	0	0	1	1	6	0	5	4	6	3	0	4	6	3	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:88691110G>A	ENST00000301011.5	+	12	2199	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E691K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	667	Ser-rich.					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)		AGACCCTCGGGAAGCCAGGAG	0.672																																					Ovarian(121;375 2276 20373 38669)												0													30	46	41					16																	88691110		2196	4298	6494	SO:0001583	missense	0			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.1999G>A	16.37:g.88691110G>A	ENSP00000301011:p.Glu667Lys		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.E667K	ENST00000301011.5	37	c.1999	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794472	0.50102	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.32988	1.43;1.46	5.38	5.38	0.77491	.	0.162008	0.52532	D	0.000065	T	0.41858	0.1177	L	0.33485	1.01	0.47778	D	0.999516	D;D	0.58268	0.982;0.982	P;P	0.58013	0.831;0.831	T	0.31138	-0.9954	10	0.87932	D	0	-16.4804	17.3162	0.87225	0.0:0.0:1.0:0.0	.	691;667	E7ERS3;Q86VM9	.;ZCH18_HUMAN	K	667;635;691	ENSP00000301011:E667K;ENSP00000416951:E691K	ENSP00000289509:E635K	E	+	1	0	ZC3H18	87218611	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	6.816000	0.75247	2.527000	0.85204	0.655000	0.94253	GAA	ZC3H18	-	NULL	ENSG00000158545		0.672	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	-	0	68	0	G	NM_144604		88691110	1	tier1	-	no_errors	ENST00000301011	ensembl	human	known	74_37	missense	9.59	66	7	SNP	1.000	A	A	88691110	G	A	88691110	3	1	160	1	0	0	0	0	1	0	0	0	17616	1175	41	3	2041	3	ZC3H18	16	88691110	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	4460593	88691110	1663643	329	40826											
RNF167	26001	genome.wustl.edu	37	chr17	4847881	4847881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgatgtctgtgccatttgCctggatgaatatgaggatgg	9	14	13	5	0	1	3	0	3	1	0	1	5	1	5	2	3	2	0	2	3	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:4847881C>T	ENST00000262482.6	+	9	1355	c.699C>T	c.(697-699)tgC>tgT	p.C233C	RNF167_ENST00000571816.1_Silent_p.C233C|RNF167_ENST00000572430.1_Silent_p.C233C|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000575111.1_Silent_p.C233C|RNF167_ENST00000576229.1_Silent_p.C198C	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	233					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						GTGCCATTTGCCTGGATGAAT	0.542																																																	0													135	113	120					17																	4847881		2203	4300	6503	SO:0001819	synonymous_variant	0			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.699C>T	17.37:g.4847881C>T			D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.C233	ENST00000262482.6	37	c.699	CCDS11060.1	17																																																																																			RNF167	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	ENSG00000108523		0.542	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF167	HGNC	protein_coding	OTTHUMT00000216854.3	-	0	48	0	C	NM_015528		4847881	1	tier1	-	no_errors	ENST00000262482	ensembl	human	known	74_37	silent	5.71	65	4	SNP	1.000	T	T	4847881	C	T	4847881	2	4	160	1	0	0	0	0	0	0	0	1	13503	747	26	3		3	RNF167	17	4847881	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09		4847881	76347329	330	40827											
TNK1	8711	genome.wustl.edu	37	chr17	7291970	7291970	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ctggagcccgtaaagccgctGccctctctggaggcctcttg	5	9	12	15	2	2	0	0	0	2	0	3	2	2	2	4	3	3	2	4	3	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:7291970G>A	ENST00000576812.1	+	11	2107	c.1738G>A	c.(1738-1740)Gcc>Acc	p.A580T	TNK1_ENST00000311668.2_Missense_Mutation_p.A575T|TNK1_ENST00000570896.1_Missense_Mutation_p.A575T	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				TAAAGCCGCTGCCCTCTCTGG	0.587																																																	0													43	47	46					17																	7291970		1901	4136	6037	SO:0001583	missense	0			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1738G>A	17.37:g.7291970G>A	ENSP00000459799:p.Ala580Thr			Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A580T	ENST00000576812.1	37	c.1738	CCDS58510.1	17	.	.	.	.	.	.	.	.	.	.	G	0.692	-0.794191	0.02862	.	.	ENSG00000174292	ENST00000311668	T	0.77098	-1.07	4.84	-2.22	0.06952	.	1.322780	0.05181	N	0.501411	T	0.57607	0.2065	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.19391	0.025;0.011	T	0.50524	-0.8818	10	0.72032	D	0.01	.	5.2354	0.15443	0.4096:0.0:0.4566:0.1338	.	575;580	Q13470-2;Q13470	.;TNK1_HUMAN	T	575	ENSP00000312309:A575T	ENSP00000312309:A575T	A	+	1	0	TNK1	7232694	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.150000	0.16263	-0.191000	0.10448	0.655000	0.94253	GCC	TNK1	-	NULL	ENSG00000174292		0.587	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TNK1	HGNC	protein_coding	OTTHUMT00000440832.2	-	0	65	0	G	NM_003985		7291970	1	tier1	-	no_errors	ENST00000576812	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	A	A	7291970	G	A	7291970	3	1	160	1	0	0	0	0	1	0	0	0	16364	1319	46	3	1761	3	TNK1	17	7291970	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2444089	7291970	73903240	331	40828											
AMAC1L3	643664	genome.wustl.edu	37	chr17	7385682	7385682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggttcaggtggtgcccGctggcaacgctgccactgtt	4	10	15	12	3	1	0	1	0	0	0	1	0	1	0	2	4	4	5	2	4	1	2	rs143401129	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:7385682G>A	ENST00000412468.2	+	2	494	c.379G>A	c.(379-381)Gct>Act	p.A127T	ZBTB4_ENST00000311403.4_Intron|ZBTB4_ENST00000380599.4_5'Flank|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	127	EamA 1.					integral component of membrane (GO:0016021)		p.A127T(1)									GGTGGTGCCCGCTGGCAACGC	0.617													G|||	2	0.000399361	0	0	5008	,	,		18120	0.002		0	False		,,,				2504	0																1	Substitution - Missense(1)	skin(1)											117	118	117					17																	7385682		2203	4297	6500	SO:0001583	missense	0				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.379G>A	17.37:g.7385682G>A	ENSP00000396523:p.Ala127Thr			Missense_Mutation	SNP	pfam_DMT	p.A127T	ENST00000412468.2	37	c.379	CCDS45603.1	17	.	.	.	.	.	.	.	.	.	.	G	7.540	0.660468	0.14645	.	.	ENSG00000181222	ENST00000412468	T	0.61040	0.14	4.33	1.16	0.20824	.	.	.	.	.	T	0.34221	0.0890	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.18209	-1.0344	9	0.15952	T	0.53	2.672	4.1386	0.10183	0.2674:0.3521:0.3805:0.0	.	127	P0C7Q6	S35G6_HUMAN	T	127	ENSP00000396523:A127T	ENSP00000396523:A127T	A	+	1	0	SLC35G6	7326406	0.000000	0.05858	0.060000	0.19600	0.581000	0.36288	-0.024000	0.12435	0.400000	0.25396	0.563000	0.77884	GCT	SLC35G6	-	pfam_DMT	ENSG00000259224		0.617	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G6	HGNC	protein_coding			0	111	0	G	NM_001102614		7385682	1			no_errors	ENST00000412468	ensembl	human	known	74_37	missense	5.80	64	4	SNP	0.004	A	A	7385682	G	A	7385682	3	1	160	1	0	0	0	0	1	0	0	0	561	1087	38	1	385	1	AMAC1L3	17	7385682	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	93712	7385682	73809528	332	40829											
TP53	7157	genome.wustl.edu	37	chr17	7578202	7578202	+	Missense_Mutation	SNP	A	A	T	1	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	gcggctcatagggcaccaccAcactatgtcgaaaagtgttt	11	9	10	11	2	1	0	1	0	0	0	2	1	1	0	2	2	0	3	2	2	4	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:7578202A>T	ENST00000269305.4	-	6	836	c.647T>A	c.(646-648)gTg>gAg	p.V216E	TP53_ENST00000413465.2_Missense_Mutation_p.V216E|TP53_ENST00000455263.2_Missense_Mutation_p.V216E|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V216E|TP53_ENST00000420246.2_Missense_Mutation_p.V216E|TP53_ENST00000445888.2_Missense_Mutation_p.V216E	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(10)|p.V216del(8)|p.0?(8)|p.V216E(7)|p.V216G(6)|p.V216A(3)|p.V216fs*31(2)|p.H214fs*5(2)|p.V84G(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*6(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.V84E(1)|p.V123G(1)|p.V123E(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>M(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGCACCACCACACTATGTCG	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"	62	Substitution - Missense(20)|Deletion - In frame(11)|Deletion - Frameshift(10)|Unknown(10)|Whole gene deletion(8)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	ovary(9)|lung(8)|haematopoietic_and_lymphoid_tissue(6)|biliary_tract(5)|endometrium(5)|oesophagus(4)|liver(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(2)|central_nervous_system(2)|breast(2)|urinary_tract(2)|soft_tissue(1)|skin(1)|pancreas(1)											123	111	115					17																	7578202		2203	4300	6503	SO:0001583	missense	0	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.647T>A	17.37:g.7578202A>T	ENSP00000269305:p.Val216Glu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V216E	ENST00000269305.4	37	c.647	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853378	0.91355	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	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	0.99878	0.9942	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0;1.0;1.0	D	0.96334	0.9246	10	0.87932	D	0	-12.2832	13.4753	0.61306	1.0:0.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216E;ENSP00000352610:V216E;ENSP00000269305:V216E;ENSP00000398846:V216E;ENSP00000391127:V216E;ENSP00000391478:V216E;ENSP00000425104:V84E;ENSP00000423862:V123E	ENSP00000269305:V216E	V	-	2	0	TP53	7518927	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	9.287000	0.95975	2.128000	0.65567	0.460000	0.39030	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	87	0	A	NM_000546		7578202	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	26.53	36	13	SNP	0.999	T	T	7578202	A	T	7578202	3	4	160	1	0	0	0	0	1	0	0	0	16429	159	6	5	647	5	TP53	17	7578202	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	192520	7578202	73617008	333	40830											
GUCY2D	3000	genome.wustl.edu	37	chr17	7909879	7909879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctgctagacacggacGcggcgggagaccggcttttt	6	9	15	11	6	0	2	0	0	0	2	1	4	0	3	1	4	2	3	1	4	1	3	rs144565168		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:7909879G>A	ENST00000254854.4	+	4	1375	c.1225G>A	c.(1225-1227)Gcg>Acg	p.A409T		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	409					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)				AGACACGGACGCGGCGGGAGA	0.672																																																	0								G	THR/ALA	0,4406		0,0,2203	31	32	31		1225	5.2	0	17	dbSNP_134	31	1,8597	1.2+/-3.3	0,1,4298	no	missense	GUCY2D	NM_000180.3	58	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	409/1104	7909879	1,13003	2203	4299	6502	SO:0001583	missense	0			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.1225G>A	17.37:g.7909879G>A	ENSP00000254854:p.Ala409Thr		Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A409T	ENST00000254854.4	37	c.1225	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665859	0.67700	0.0	1.16E-4	ENSG00000132518	ENST00000254854	T	0.74002	-0.8	5.15	5.15	0.70609	.	0.341504	0.21337	N	0.076199	T	0.64735	0.2625	M	0.63428	1.95	0.33032	D	0.530342	P	0.46656	0.882	B	0.26416	0.069	T	0.73474	-0.3971	10	0.15952	T	0.53	.	17.3912	0.87431	0.0:0.0:1.0:0.0	.	409	Q02846	GUC2D_HUMAN	T	409	ENSP00000254854:A409T	ENSP00000254854:A409T	A	+	1	0	GUCY2D	7850604	0.889000	0.30405	0.026000	0.17262	0.102000	0.19082	3.407000	0.52644	2.401000	0.81631	0.561000	0.74099	GCG	GUCY2D	-	superfamily_Peripla_BP_I	ENSG00000132518		0.672	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	-	0	65	0	G			7909879	1	tier1	rs144565168	no_errors	ENST00000254854	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.908	A	A	7909879	G	A	7909879	3	1	160	1	0	0	0	0	1	0	0	0	6924	1087	38	1	1235	1	GUCY2D	17	7909879	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	331677	7909879	73285331	334	40831											
GUCY2D	3000	genome.wustl.edu	37	chr17	7917315	7917315	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggcagagcagccggaacTtcggccctccatggaccaca	9	5	12	15	2	0	1	0	0	0	1	2	3	1	3	4	4	3	2	4	4	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:7917315T>G	ENST00000254854.4	+	12	2531	c.2381T>G	c.(2380-2382)cTt>cGt	p.L794R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	794	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				CAGCCGGAACTTCGGCCCTCC	0.637																																																	0													81	80	80					17																	7917315		2203	4300	6503	SO:0001583	missense	0			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.2381T>G	17.37:g.7917315T>G	ENSP00000254854:p.Leu794Arg		Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L794R	ENST00000254854.4	37	c.2381	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	T	1.382	-0.583266	0.03827	.	.	ENSG00000132518	ENST00000254854	D	0.81996	-1.56	5.44	3.1	0.35709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.146393	0.32028	N	0.006698	T	0.56321	0.1977	N	0.01761	-0.735	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.46119	-0.9214	10	0.24483	T	0.36	.	6.078	0.19925	0.3655:0.0:0.132:0.5025	.	794	Q02846	GUC2D_HUMAN	R	794	ENSP00000254854:L794R	ENSP00000254854:L794R	L	+	2	0	GUCY2D	7858040	0.001000	0.12720	0.860000	0.33809	0.857000	0.48899	0.914000	0.28624	1.052000	0.40392	0.533000	0.62120	CTT	GUCY2D	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000132518		0.637	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	-	0	54	0	T			7917315	1	tier1	-	no_errors	ENST00000254854	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.001	G	G	7917315	T	G	7917315	3	3	160	1	0	0	0	0	1	0	0	0	6924	1609	56	4	2423	4	GUCY2D	17	7917315	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	7436	7917315	73277895	335	40832											
MYH10	4628	genome.wustl.edu	37	chr17	8422001	8422001	+	Missense_Mutation	SNP	T	T	G	0	1	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	gaagaagataatgatatcggTgatttttaaatctctttctt	13	17	7	4	1	2	4	0	2	2	2	4	5	2	4	0	1	0	0	0	1	6	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:8422001T>G	ENST00000269243.4	-	19	2497	c.2359A>C	c.(2359-2361)Acc>Ccc	p.T787P	MYH10_ENST00000379980.4_Missense_Mutation_p.T803P|MYH10_ENST00000360416.3_Missense_Mutation_p.T818P|MYH10_ENST00000396239.1_Missense_Mutation_p.T808P	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	787	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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						ATGATATCGGTGATTTTTAAA	0.418																																																	0													102	92	95					17																	8422001		2203	4300	6503	SO:0001583	missense	0			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.2359A>C	17.37:g.8422001T>G	ENSP00000269243:p.Thr787Pro		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T808P	ENST00000269243.4	37	c.2422	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	T	24.5	4.537357	0.85812	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.95137	-0.62;-0.62;-3.62;-0.62	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.97586	0.9209	M	0.90759	3.145	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	0.98548	1.0635	10	0.87932	D	0	.	14.7985	0.69894	0.0:0.0:0.0:1.0	.	796;818;787	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	P	787;818;808;803	ENSP00000269243:T787P;ENSP00000353590:T818P;ENSP00000379539:T808P;ENSP00000369315:T803P	ENSP00000269243:T787P	T	-	1	0	MYH10	8362726	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	7.825000	0.86693	2.078000	0.62432	0.524000	0.50904	ACC	MYH10	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000133026		0.418	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	-	0	50	0	T			8422001	-1	tier1	-	no_errors	ENST00000396239	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	G	G	8422001	T	G	8422001	3	3	160	1	0	0	0	0	1	0	0	0	10068	1696	59	4	3663	4	MYH10	17	8422001	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	504686	8422001	72773209	336	40833											
RCVRN	5957	genome.wustl.edu	37	chr17	9808472	9808472	+	Frame_Shift_Del	DEL	A	A	-																															cctccaggatctccttggacAgggccccacttttgctgttc																										TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:9808472delA	ENST00000226193.5	-	1	466	c.26delT	c.(25-27)ctgfs	p.L9fs		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	9					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						CTCCTTGGACAGGGCCCCACT	0.642																																																	0													21	21	21					17																	9808472		2203	4300	6503	SO:0001589	frameshift_variant	0			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.26delT	17.37:g.9808472delA	ENSP00000226193:p.Leu9fs		Q53XL0	Frame_Shift_Del	DEL	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.L9fs	ENST00000226193.5	37	c.26	CCDS11151.1	17																																																																																			RCVRN	-	prints_Recoverin	ENSG00000109047		0.642	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCVRN	HGNC	protein_coding	OTTHUMT00000252600.2		0	11	0	A	NM_002903		9808472	-1	tier1		no_errors	ENST00000226193	ensembl	human	known	74_37	frame_shift_del	20.00	16	4	DEL	1.000	-	-	9808472	A	-	9808472	7	5	160	1	0	1	0	1	0	0	0	0	13231	188	7	0	588	0	RCVRN	17	9808472	Frame_Shift_Del	DEL	A	TCGA-V5-AASX-01A-11D-A387-09	1386471	9808472	71386738	337	40834											
MYH3	4621	genome.wustl.edu	37	chr17	10533739	10533739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcaaggtgggcgctggtgtCctgctccttcttcagctcct	3	13	11	14	1	3	0	2	0	1	0	6	0	6	0	3	3	2	3	3	3	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:10533739C>T	ENST00000583535.1	-	37	5410	c.5323G>A	c.(5323-5325)Gac>Aac	p.D1775N	MYH3_ENST00000226209.7_Missense_Mutation_p.D1775N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1775					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						GCGCTGGTGTCCTGCTCCTTC	0.572																																																	0													115	110	112					17																	10533739		2203	4300	6503	SO:0001583	missense	0				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.5323G>A	17.37:g.10533739C>T	ENSP00000464317:p.Asp1775Asn		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1775N	ENST00000583535.1	37	c.5323	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.334080	0.95758	.	.	ENSG00000109063	ENST00000226209	T	0.79749	-1.3	4.65	4.65	0.58169	Myosin tail (1);	.	.	.	.	D	0.92779	0.7704	H	0.96916	3.905	0.49582	D	0.999802	D	0.59767	0.986	D	0.64237	0.923	D	0.95014	0.8154	9	0.66056	D	0.02	.	18.076	0.89427	0.0:1.0:0.0:0.0	.	1775	P11055	MYH3_HUMAN	N	1775	ENSP00000226209:D1775N	ENSP00000226209:D1775N	D	-	1	0	MYH3	10474464	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.647000	0.83462	2.561000	0.86390	0.650000	0.86243	GAC	MYH3	-	pfam_Myosin_tail	ENSG00000109063		0.572	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	-	0	181	0	C	NM_002470		10533739	-1	tier1	-	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	29.87	54	23	SNP	1.000	T	T	10533739	C	T	10533739	3	4	160	1	0	0	0	0	1	0	0	0	10074	855	30	3	519	3	MYH3	17	10533739	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	725267	10533739	70661471	338	40835											
MAP2K4	6416	genome.wustl.edu	37	chr17	12028638	12028638	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gaatagacccaagcgcatcaCgacaaggatatgatgtccgc	14	6	10	11	3	1	2	1	1	0	1	2	5	2	3	2	1	1	1	2	1	5	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:12028638C>T	ENST00000353533.5	+	8	904	c.841C>T	c.(841-843)Cga>Tga	p.R281*	MAP2K4_ENST00000415385.3_Nonsense_Mutation_p.R292*	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	281	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.?(3)|p.R281*(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)		AAGCGCATCACGACAAGGATA	0.418			"D, Mis, N"		"pancreatic, breast, colorectal"																																			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	14	Whole gene deletion(10)|Unknown(3)|Substitution - Nonsense(1)	breast(4)|ovary(4)|lung(2)|pancreas(2)|biliary_tract(1)|large_intestine(1)											236	185	202					17																	12028638		2203	4300	6503	SO:0001587	stop_gained	0			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.841C>T	17.37:g.12028638C>T	ENSP00000262445:p.Arg281*		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R292*	ENST00000353533.5	37	c.874	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668997	0.67814	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.1	2.92	0.33932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3994	0.55404	0.3766:0.6234:0.0:0.0	.	.	.	.	X	281;292;258;153	.	ENSP00000262445:R281X	R	+	1	2	MAP2K4	11969363	0.645000	0.27286	0.907000	0.35723	0.986000	0.74619	1.381000	0.34362	1.454000	0.47793	0.563000	0.77884	CGA	MAP2K4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000065559		0.418	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	-	0	53	0	C			12028638	1	tier1	-	no_errors	ENST00000415385	ensembl	human	known	74_37	nonsense	7.35	63	5	SNP	0.791	T	T	12028638	C	T	12028638	4	4	160	1	0	0	0	0	0	1	0	0	9277	528	19	1	871	1	MAP2K4	17	12028638	Nonsense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1494899	12028638	69166572	339	40836											
MYOCD	93649	genome.wustl.edu	37	chr17	12656531	12656531	+	Silent	SNP	T	T	C	0	1	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	cagcattcaccgctgggggcTgtgaaaagcccacagcacat	11	6	11	13	1	1	1	1	1	0	0	1	1	1	1	2	2	3	4	2	2	2	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:12656531T>C	ENST00000343344.4	+	10	1926	c.1926T>C	c.(1924-1926)gcT>gcC	p.A642A	MYOCD_ENST00000425538.1_Silent_p.A642A|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.A546A			Q8IZQ8	MYCD_HUMAN	myocardin	642					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CGCTGGGGGCTGTGAAAAGCC	0.552																																																	0													93	98	96					17																	12656531		2203	4300	6503	SO:0001819	synonymous_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1926T>C	17.37:g.12656531T>C			Q5UBU5|Q8N7Q1	Silent	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.A642	ENST00000343344.4	37	c.1926	CCDS11163.1	17																																																																																			MYOCD	-	NULL	ENSG00000141052		0.552	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	-	0	37	0	T	NM_153604		12656531	1	tier1	-	no_errors	ENST00000425538	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.000	C	C	12656531	T	C	12656531	2	2	160	1	0	0	0	0	0	0	0	1	10125	1567	55	4		4	MYOCD	17	12656531	Silent	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	627893	12656531	68538679	340	40837											
KCNJ12	3768	genome.wustl.edu	37	chr17	21319079	21319079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctccatcgagacgcagaCcaccatcggctacgggctgc	8	7	10	16	4	1	2	0	0	1	2	4	3	1	2	3	2	2	3	3	2	1	2	rs76518282	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:21319079C>A	ENST00000583088.1	+	3	1320	c.425C>A	c.(424-426)aCc>aAc	p.T142N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T142N	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	142				T -> N (in Ref. 2; AAC50615). {ECO:0000305}.	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)	GAGACGCAGACCACCATCGGC	0.662										Prostate(3;0.18)																																							0													47	45	46					17																	21319079		2202	4300	6502	SO:0001583	missense	0			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.425C>A	17.37:g.21319079C>A	ENSP00000463778:p.Thr142Asn		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.T142N	ENST00000583088.1	37	c.425	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380515	0.82792	.	.	ENSG00000184185	ENST00000331718	D	0.97352	-4.35	5.23	5.23	0.72850	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.054946	0.64402	D	0.000001	D	0.98909	0.9630	H	0.95780	3.72	0.80722	D	1	D	0.69078	0.997	D	0.67231	0.95	D	0.99320	1.0906	10	0.54805	T	0.06	.	18.7906	0.91973	0.0:1.0:0.0:0.0	.	142	Q14500	IRK12_HUMAN	N	142	ENSP00000328150:T142N	ENSP00000328150:T142N	T	+	2	0	KCNJ12	21259672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.680000	0.84062	2.448000	0.82819	0.591000	0.81541	ACC	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	ENSG00000184185		0.662	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0	39	0	C	NM_021012		21319079	1	tier1	rs76518282	no_errors	ENST00000331718	ensembl	human	known	74_37	missense	16.95	49	10	SNP	1.000	A	A	21319079	C	A	21319079	3	1	160	1	0	0	0	0	1	0	0	0	8073	507	18	3	427	3	KCNJ12	17	21319079	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	8662548	21319079	59876131	341	40838											
NLK	51701	genome.wustl.edu	37	chr17	26495561	26495561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttactcagtattatcgggctCcagaaatcctgatgggcagc	10	11	10	10	1	1	2	1	1	0	1	4	2	3	2	2	2	2	3	2	2	4	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:26495561C>T	ENST00000407008.3	+	6	1643	c.925C>T	c.(925-927)Cca>Tca	p.P309S		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TTATCGGGCTCCAGAAATCCT	0.418																																																	0													171	172	172					17																	26495561		2203	4300	6503	SO:0001583	missense	0			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"nemo like kinase"			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.925C>T	17.37:g.26495561C>T	ENSP00000384625:p.Pro309Ser		B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P309S	ENST00000407008.3	37	c.925	CCDS11224.2	17	.	.	.	.	.	.	.	.	.	.	C	31	5.094750	0.94197	.	.	ENSG00000087095	ENST00000407008	D	0.82803	-1.65	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);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94866	0.8026	10	0.87932	D	0	-19.6892	19.4443	0.94840	0.0:1.0:0.0:0.0	.	309	Q9UBE8	NLK_HUMAN	S	309	ENSP00000384625:P309S	ENSP00000384625:P309S	P	+	1	0	NLK	23519688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.847000	0.97988	0.591000	0.81541	CCA	NLK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000087095		0.418	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLK	HGNC	protein_coding	OTTHUMT00000255607.3	-	0	74	0	C	NM_016231		26495561	1	tier1	-	no_errors	ENST00000407008	ensembl	human	known	74_37	missense	8.91	92	9	SNP	1.000	T	T	26495561	C	T	26495561	3	4	160	1	0	0	0	0	1	0	0	0	10505	855	30	3	947	3	NLK	17	26495561	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	5176482	26495561	54699649	342	40839											
SLFN11	91607	genome.wustl.edu	37	chr17	33690706	33690706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataactctctccttctcttGgtctctctgaattttctgca	6	18	4	13	0	5	1	0	1	5	0	9	1	6	1	1	1	2	1	1	1	2	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:33690706G>T	ENST00000394566.1	-	4	393	c.121C>A	c.(121-123)Caa>Aaa	p.Q41K	SLFN11_ENST00000308377.4_Missense_Mutation_p.Q41K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	41					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCTTCTCTTGGTCTCTCTGA	0.473																																																	0													114	119	117					17																	33690706		2203	4300	6503	SO:0001583	missense	0			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.121C>A	17.37:g.33690706G>T	ENSP00000378067:p.Gln41Lys		E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.Q41K	ENST00000394566.1	37	c.121	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	G	0.325	-0.959510	0.02267	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.21361	4.61;4.61;2.01;2.34;2.01	4.0	-5.31	0.02730	.	1.479730	0.04839	N	0.440091	T	0.08268	0.0206	N	0.11000	0.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39210	-0.9625	10	0.02654	T	1	.	7.7467	0.28873	0.0:0.3909:0.2131:0.396	.	41	Q7Z7L1	SLN11_HUMAN	K	41	ENSP00000312402:Q41K;ENSP00000378067:Q41K;ENSP00000397454:Q41K;ENSP00000393615:Q41K;ENSP00000395140:Q41K	ENSP00000312402:Q41K	Q	-	1	0	SLFN11	30714819	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.746000	0.04829	-0.696000	0.05098	0.655000	0.94253	CAA	SLFN11	-	NULL	ENSG00000172716		0.473	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	-	0	126	0	G	NM_152270		33690706	-1	tier1	-	no_errors	ENST00000308377	ensembl	human	known	74_37	missense	23.73	90	28	SNP	0.000	T	T	33690706	G	T	33690706	3	4	160	1	0	0	0	0	1	0	0	0	14778	1357	47	3	2600	3	SLFN11	17	33690706	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	7195145	33690706	47504504	343	40840											
FBXL20	84961	genome.wustl.edu	37	chr17	37441733	37441733	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattataagaaatttacctCagagcttttagagacatgtt	14	16	6	5	0	1	3	1	0	0	3	1	4	1	3	1	0	2	2	1	0	6	8			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:37441733C>T	ENST00000264658.6	-	7	752	c.492G>A	c.(490-492)ctG>ctA	p.L164L	FBXL20_ENST00000394294.3_Intron|FBXL20_ENST00000583610.1_Silent_p.L164L|FBXL20_ENST00000577399.1_Silent_p.L166L	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	164					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AAATTTACCTCAGAGCTTTTA	0.313																																																	0													60	61	61					17																	37441733		2203	4299	6502	SO:0001819	synonymous_variant	0			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.492G>A	17.37:g.37441733C>T			A8K729|Q38J52	Silent	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.L164	ENST00000264658.6	37	c.492	CCDS32640.1	17																																																																																			FBXL20	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000108306		0.313	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL20	HGNC	protein_coding	OTTHUMT00000444315.2	-	0	104	0	C	NM_032875		37441733	-1	tier1	-	no_errors	ENST00000264658	ensembl	human	known	74_37	silent	7.86	128	11	SNP	0.998	T	T	37441733	C	T	37441733	2	4	160	1	0	0	0	0	0	0	0	1	5739	813	29	3		3	FBXL20	17	37441733	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	3751027	37441733	43753477	344	40841											
KRT36	8689	genome.wustl.edu	37	chr17	39643973	39643973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcggtccccaagttggcaaCggagtacactgacttcctgc	8	9	11	13	2	0	1	0	1	0	0	3	2	2	2	3	3	3	3	3	3	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:39643973C>T	ENST00000328119.6	-	4	715	c.716G>A	c.(715-717)cGt>cAt	p.R239H	KRT36_ENST00000393986.2_Missense_Mutation_p.R189H	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	239	Coil 1B.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				AAGTTGGCAACGGAGTACACT	0.527																																																	0													111	94	100					17																	39643973		2203	4300	6503	SO:0001583	missense	0			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.716G>A	17.37:g.39643973C>T	ENSP00000329165:p.Arg239His		Q86XG4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R239H	ENST00000328119.6	37	c.716	CCDS11395.1	17	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013929	0.35511	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	T;T	0.29142	1.58;1.58	5.83	5.83	0.93111	Filament (1);	0.000000	0.50627	D	0.000106	T	0.39489	0.1080	M	0.72576	2.205	0.44352	D	0.997246	B	0.21606	0.058	B	0.34242	0.178	T	0.30880	-0.9963	10	0.66056	D	0.02	.	11.9853	0.53145	0.0:0.9149:0.0:0.0851	.	239	O76013	KRT36_HUMAN	H	189;239	ENSP00000377555:R189H;ENSP00000329165:R239H	ENSP00000329165:R239H	R	-	2	0	KRT36	36897499	0.093000	0.21703	0.996000	0.52242	0.055000	0.15305	0.904000	0.28491	2.769000	0.95229	0.655000	0.94253	CGT	KRT36	-	pfam_IF,superfamily_Prefoldin	ENSG00000126337		0.527	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT36	HGNC	protein_coding	OTTHUMT00000259508.1	-	0	35	0	C	NM_003771		39643973	-1	tier1	-	no_errors	ENST00000328119	ensembl	human	known	74_37	missense	22.00	39	11	SNP	0.983	T	T	39643973	C	T	39643973	3	4	160	1	0	0	0	0	1	0	0	0	8500	536	19	1	703	1	KRT36	17	39643973	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	2202240	39643973	41551237	345	40842											
ATP6V0A1	535	genome.wustl.edu	37	chr17	40666416	40666416	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctttgccaccctgacCgtggccatcctcctgatcat	6	11	7	17	1	1	2	1	2	0	0	3	2	3	2	7	1	2	0	7	1	0	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:40666416C>T	ENST00000343619.4	+	21	2481	c.2358C>T	c.(2356-2358)acC>acT	p.T786T	ATP6V0A1_ENST00000264649.6_Silent_p.T787T|ATP6V0A1_ENST00000546249.1_Silent_p.T786T|RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000544137.1_Silent_p.T432T|ATP6V0A1_ENST00000537728.1_Silent_p.T737T|MIR5010_ENST00000582846.1_RNA|ATP6V0A1_ENST00000393829.2_Silent_p.T780T|ATP6V0A1_ENST00000585525.1_Silent_p.T743T	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	786					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)		CCACCCTGACCGTGGCCATCC	0.612																																																	0													203	173	183					17																	40666416		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2358C>T	17.37:g.40666416C>T			B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	pfam_V-ATPase_116kDa_su	p.T787	ENST00000343619.4	37	c.2361	CCDS45684.1	17																																																																																			ATP6V0A1	-	pfam_V-ATPase_116kDa_su	ENSG00000033627		0.612	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1		0	53	0	C	NM_001130020		40666416	1			no_errors	ENST00000264649	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.531	T	T	40666416	C	T	40666416	2	4	160	1	0	0	0	0	0	0	0	1	1169	639	23	1		1	ATP6V0A1	17	40666416	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1022443	40666416	40528794	346	40843											
CDC27	996	genome.wustl.edu	37	chr17	45216210	45216210	+	Silent	SNP	A	A	C	1	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	gagtagatctccatgccttcAactctataattctcaatcct	11	14	4	12	0	4	1	2	0	3	1	7	2	5	1	3	0	2	1	3	0	5	5	rs62075659		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000527547.1_Silent_p.V532V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318																																																	2	Substitution - coding silent(2)	large_intestine(2)											36	40	39					17																	45216210		2200	4297	6497	SO:0001819	synonymous_variant	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1599T>G	17.37:g.45216210A>C			G3V1C4|Q16349|Q96F35	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V539	ENST00000066544.3	37	c.1617	CCDS11509.1	17																																																																																			CDC27	-	pfscan_TPR-contain_dom	ENSG00000004897		0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2		0	51	0	A			45216210	-1			no_errors	ENST00000531206	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.877	C	C	45216210	A	C	45216210	2	2	160	1	0	0	0	0	0	0	0	1	3073	117	5	4		4	CDC27	17	45216210	Silent	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	4549794	45216210	35979000	347	40844											
MYL4	4635	genome.wustl.edu	37	chr17	45291180	45291180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacagatagacttcactgccGaccagattgaaggtgagtat	13	10	10	8	1	1	5	1	2	0	3	1	6	1	5	2	1	2	1	2	1	4	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:45291180G>A	ENST00000354968.1	+	3	279	c.151G>A	c.(151-153)Gac>Aac	p.D51N	MYL4_ENST00000572316.1_Missense_Mutation_p.D51N|MYL4_ENST00000393450.1_Missense_Mutation_p.D51N	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	51	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.			D -> E (in Ref. 2; AAA59891). {ECO:0000305}.	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						CTTCACTGCCGACCAGATTGA	0.512																																																	0													203	174	184					17																	45291180		2203	4300	6503	SO:0001583	missense	0				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.151G>A	17.37:g.45291180G>A	ENSP00000347055:p.Asp51Asn		D3DXJ7|P11783	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.D51N	ENST00000354968.1	37	c.151	CCDS11510.1	17	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409851	0.83340	.	.	ENSG00000198336	ENST00000354968;ENST00000393450;ENST00000536623	T;T	0.80393	-1.37;-1.37	5.39	5.39	0.77823	EF-hand-like domain (1);	0.191571	0.46442	D	0.000282	T	0.79902	0.4526	M	0.77406	2.37	0.58432	D	0.999997	P	0.36010	0.532	B	0.30782	0.12	T	0.82697	-0.0329	10	0.87932	D	0	-42.8711	14.9999	0.71464	0.0:0.0:1.0:0.0	.	51	P12829	MYL4_HUMAN	N	51;51;36	ENSP00000347055:D51N;ENSP00000377096:D51N	ENSP00000347055:D51N	D	+	1	0	MYL4	42646179	1.000000	0.71417	0.973000	0.42090	0.459000	0.32528	5.169000	0.64984	2.675000	0.91044	0.609000	0.83330	GAC	MYL4	-	NULL	ENSG00000198336		0.512	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL4	HGNC	protein_coding	OTTHUMT00000441059.1	-	0	54	0	G	NM_001002841		45291180	1	tier1	-	no_errors	ENST00000354968	ensembl	human	known	74_37	missense	11.54	69	9	SNP	0.998	A	A	45291180	G	A	45291180	3	1	160	1	0	0	0	0	1	0	0	0	10087	1058	37	1	157	1	MYL4	17	45291180	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	74970	45291180	35904030	348	40845											
HOXB9	3219	genome.wustl.edu	37	chr17	46700458	46700458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggacagcgctttttcCgggaagagcgagcgtgcagc	8	8	16	9	4	0	1	0	0	0	1	1	4	1	3	1	2	5	3	1	2	2	3	rs367616249		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:46700458C>T	ENST00000311177.5	-	2	764	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Silent_p.P106P	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	186					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GCGCTTTTTCCGGGAAGAGCG	0.547																																																	0								C	GLN/ARG	0,4406		0,0,2203	143	134	137		557	5.7	1	17		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	HOXB9	NM_024017.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	186/251	46700458	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"Homeoboxes / ANTP class : HOXL subclass"	5120	protein-coding gene	gene with protein product		142964	"homeo box B9"	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.557G>A	17.37:g.46700458C>T	ENSP00000309439:p.Arg186Gln		B2RDB7|Q9H1I1	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R186Q	ENST00000311177.5	37	c.557	CCDS11534.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.070207	0.97256	0.0	1.16E-4	ENSG00000170689	ENST00000311177	D	0.97209	-4.29	5.71	5.71	0.89125	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98639	0.9544	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.87932	D	0	.	19.8408	0.96685	0.0:1.0:0.0:0.0	.	186	P17482	HXB9_HUMAN	Q	186	ENSP00000309439:R186Q	ENSP00000309439:R186Q	R	-	2	0	HOXB9	44055457	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	CGG	HOXB9	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom	ENSG00000170689		0.547	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB9	HGNC	protein_coding	OTTHUMT00000358101.2		0	84	0	C			46700458	-1			no_errors	ENST00000311177	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	46700458	C	T	46700458	3	4	160	1	0	0	0	0	1	0	0	0	7335	652	23	1	199	1	HOXB9	17	46700458	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1409278	46700458	34494752	349	40846											
CD300A	11314	genome.wustl.edu	37	chr17	72469708	72469708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gagcaaatgcaggaccgtggCgggccccgtggggggatccc	7	4	18	12	3	0	0	0	0	0	0	1	3	1	2	4	6	2	2	4	6	1	0	rs200229648	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:72469708C>T	ENST00000360141.3	+	2	362	c.74C>T	c.(73-75)gCg>gTg	p.A25V	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	25	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGGACCGTGGCGGGCCCCGTG	0.567													C|||	4	0.000798722	0.003	0	5008	,	,		18446	0		0	False		,,,				2504	0																0								C	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	62	68	66		74	-8.1	0	17		66	2,8598	3.0+/-9.4	0,2,4298	yes	missense	CD300A	NM_007261.2	64	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	benign	25/300	72469708	5,13001	2203	4300	6503	SO:0001583	missense	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.74C>T	17.37:g.72469708C>T	ENSP00000353259:p.Ala25Val		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.A25V	ENST00000360141.3	37	c.74	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529967	0.27387	6.81E-4	2.33E-4	ENSG00000167851	ENST00000360141	T	0.64803	-0.12	4.06	-8.12	0.01078	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	5.179790	0.00508	N	0.000172	T	0.36026	0.0952	L	0.27053	0.805	0.09310	N	0.999998	P	0.50617	0.937	B	0.35182	0.197	T	0.55296	-0.8163	10	0.36615	T	0.2	.	1.5693	0.02612	0.4704:0.1199:0.1873:0.2224	.	25	Q9UGN4	CLM8_HUMAN	V	25	ENSP00000353259:A25V	ENSP00000353259:A25V	A	+	2	0	CD300A	69981303	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.215000	0.00272	-2.737000	0.00381	-0.681000	0.03757	GCG	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000167851		0.567	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	-	0	31	0	C	NM_007261		72469708	1	tier1	rs200229648	no_errors	ENST00000360141	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.000	T	T	72469708	C	T	72469708	3	4	160	1	0	0	0	0	1	0	0	0	3003	768	27	1	80	1	CD300A	17	72469708	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	25769250	72469708	8725502	350	40847											
CD300A	11314	genome.wustl.edu	37	chr17	72469942	72469942	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ggatgcaggcacctactggtGtggggtggatacaccatggc	8	8	16	9	0	0	0	0	0	0	0	0	2	0	2	2	7	3	2	2	7	2	2	rs373168457		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:72469942G>A	ENST00000360141.3	+	2	596	c.308G>A	c.(307-309)tGt>tAt	p.C103Y	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	103	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						ACCTACTGGTGTGGGGTGGAT	0.572																																																	0								G	TYR/CYS	0,4406		0,0,2203	135	133	134		308	4.2	1	17		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD300A	NM_007261.2	194	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	103/300	72469942	1,13005	2203	4300	6503	SO:0001583	missense	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.308G>A	17.37:g.72469942G>A	ENSP00000353259:p.Cys103Tyr		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.C103Y	ENST00000360141.3	37	c.308	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222960	0.39300	0.0	1.16E-4	ENSG00000167851	ENST00000360141	T	0.35421	1.31	4.22	4.22	0.49857	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.268662	0.26407	N	0.024556	T	0.71796	0.3382	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81669	-0.0828	10	0.87932	D	0	.	12.8038	0.57601	0.0:0.0:1.0:0.0	.	103	Q9UGN4	CLM8_HUMAN	Y	103	ENSP00000353259:C103Y	ENSP00000353259:C103Y	C	+	2	0	CD300A	69981537	1.000000	0.71417	0.981000	0.43875	0.104000	0.19210	3.668000	0.54554	2.279000	0.76181	0.484000	0.47621	TGT	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000167851		0.572	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	-	0	44	0	G	NM_007261		72469942	1	tier1	-	no_errors	ENST00000360141	ensembl	human	known	74_37	missense	26.47	50	18	SNP	0.997	A	A	72469942	G	A	72469942	3	1	160	1	0	0	0	0	1	0	0	0	3003	1377	48	3	314	3	CD300A	17	72469942	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	234	72469942	8725268	351	40848											
C17orf28	283987	genome.wustl.edu	37	chr17	72957985	72957985	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctgttctccgtggaacaAaagaactgaacccatgggtt	12	9	9	11	1	1	2	0	1	1	1	2	3	1	3	3	2	3	2	3	2	5	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:72957985A>C	ENST00000425042.2	-	6	788	c.711T>G	c.(709-711)ttT>ttG	p.F237L	HID1_ENST00000532900.1_5'Flank	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	237					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											CCGTGGAACAAAAGAACTGAA	0.572											OREG0024723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78	85	83					17																	72957985		2203	4300	6503	SO:0001583	missense	0				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.711T>G	17.37:g.72957985A>C	ENSP00000413520:p.Phe237Leu	1141	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	pfam_Dymeclin	p.F237L	ENST00000425042.2	37	c.711	CCDS32726.1	17	.	.	.	.	.	.	.	.	.	.	a	17.75	3.465944	0.63625	.	.	ENSG00000167861	ENST00000425042;ENST00000530857	.	.	.	4.99	1.34	0.21922	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.41356	1.27	0.58432	D	0.999999	B;B	0.18968	0.032;0.02	B;B	0.24006	0.05;0.029	T	0.12967	-1.0527	9	0.23891	T	0.37	.	7.3983	0.26950	0.4948:0.0:0.5052:0.0	.	236;237	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	L	237;129	.	ENSP00000413520:F237L	F	-	3	2	C17orf28	70469580	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.823000	0.39062	0.270000	0.21984	0.255000	0.18592	TTT	HID1	-	NULL	ENSG00000167861		0.572	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HID1	HGNC	protein_coding	OTTHUMT00000390011.2	-	0	172	0	A	NM_030630		72957985	-1	tier1	-	no_errors	ENST00000425042	ensembl	human	known	74_37	missense	9.09	80	8	SNP	1.000	C	C	72957985	A	C	72957985	3	2	160	1	0	0	0	0	1	0	0	0	1859	11	1	4	1711	4	C17orf28	17	72957985	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	488043	72957985	8237225	352	40849											
PTPRM	5797	genome.wustl.edu	37	chr18	7774151	7774151	+	Silent	SNP	C	C	A	0	0	0	1	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	ttcttttacattttaggtggCtgcctctttgatgagccgta	6	18	9	8	1	2	2	0	2	2	0	2	2	2	2	2	2	3	2	2	2	3	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:7774151C>A	ENST00000332175.8	+	2	1115	c.78C>A	c.(76-78)ggC>ggA	p.G26G	PTPRM_ENST00000400060.4_Silent_p.G26G|PTPRM_ENST00000400053.4_5'UTR|PTPRM_ENST00000580170.1_Silent_p.G26G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	26	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTTTAGGTGGCTGCCTCTTTG	0.398																																																	0													138	128	131					18																	7774151		2203	4300	6503	SO:0001819	synonymous_variant	0			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.78C>A	18.37:g.7774151C>A			A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.G26	ENST00000332175.8	37	c.78	CCDS11840.1	18																																																																																			PTPRM	-	superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000173482		0.398	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0	91	0	C			7774151	1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	silent	12.39	99	14	SNP	0.976	A	A	7774151	C	A	7774151	2	1	160	1	0	0	0	0	0	0	0	1	12851	784	28	3		3	PTPRM	18	7774151	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09		7774151	70303097	353	40850											
TXNDC2	84203	genome.wustl.edu	37	chr18	9887595	9887595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	atccagcccaaggagggtgaCattcccaagtctccaaaaca	14	6	8	13	0	1	1	0	1	1	0	4	2	3	2	4	2	2	0	4	2	4	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:9887595C>G	ENST00000306084.6	+	2	1318	c.1119C>G	c.(1117-1119)gaC>gaG	p.D373E	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.D306E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	373	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGAGGGTGACATTCCCAAGT	0.557																																																	0													142	130	134					18																	9887595		2203	4300	6503	SO:0001583	missense	0			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1119C>G	18.37:g.9887595C>G	ENSP00000304908:p.Asp373Glu		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.D373E	ENST00000306084.6	37	c.1119	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652778	0.29336	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16597	2.33;2.33	3.83	-2.94	0.05581	.	.	.	.	.	T	0.07143	0.0181	N	0.17474	0.49	0.09310	N	1	B	0.31769	0.339	B	0.31686	0.134	T	0.33420	-0.9869	8	.	.	.	-1.8788	0.952	0.01378	0.1444:0.2256:0.267:0.363	.	373	Q86VQ3	TXND2_HUMAN	E	171;306;373;358	ENSP00000350419:D306E;ENSP00000304908:D373E	.	D	+	3	2	TXNDC2	9877595	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.863000	0.04259	-0.663000	0.05331	-1.191000	0.01696	GAC	TXNDC2	-	pfam_Glutenin	ENSG00000168454		0.557	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	-	0	124	0	C			9887595	1	tier1	-	no_errors	ENST00000306084	ensembl	human	known	74_37	missense	11.94	118	16	SNP	0.000	G	G	9887595	C	G	9887595	3	3	160	1	0	0	0	0	1	0	0	0	16846	477	17	5	1125	5	TXNDC2	18	9887595	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	2113444	9887595	68189653	354	40851											
CDH2	1000	genome.wustl.edu	37	chr18	25532209	25532209	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcctgctcaccaccactacTtgaggaattaagggagctca	11	9	9	12	0	2	1	2	1	0	0	3	3	3	3	3	2	3	2	3	2	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:25532209T>G	ENST00000269141.3	-	16	3052	c.2629A>C	c.(2629-2631)Agt>Cgt	p.S877R	CDH2_ENST00000399380.3_Missense_Mutation_p.S846R|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	877	Ser-rich.				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						CCACCACTACTTGAGGAATTA	0.507											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													119	112	114					18																	25532209		2203	4300	6503	SO:0001583	missense	0			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.2629A>C	18.37:g.25532209T>G	ENSP00000269141:p.Ser877Arg	779	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.S877R	ENST00000269141.3	37	c.2629	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262771	0.59431	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.80033	-1.33;-1.33	5.67	5.67	0.87782	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90580	0.7047	M	0.86097	2.795	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	D	0.91875	0.5511	10	0.66056	D	0.02	.	15.916	0.79517	0.0:0.0:0.0:1.0	.	846;877	A8MWK3;P19022	.;CADH2_HUMAN	R	877;846	ENSP00000269141:S877R;ENSP00000382312:S846R	ENSP00000269141:S877R	S	-	1	0	CDH2	23786207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.198000	0.72106	2.164000	0.68074	0.482000	0.46254	AGT	CDH2	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000170558		0.507	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	-	0	65	0	T	NM_001792		25532209	-1	tier1	-	no_errors	ENST00000269141	ensembl	human	known	74_37	missense	9.41	77	8	SNP	1.000	G	G	25532209	T	G	25532209	3	3	160	1	0	0	0	0	1	0	0	0	3112	1609	56	4	95	4	CDH2	18	25532209	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	15644614	25532209	52545039	355	40852											
KIAA1012	22878	genome.wustl.edu	37	chr18	29454467	29454467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaacataaagatattctctGaggaaagccccctgttgagc	14	10	8	9	0	1	3	0	2	1	1	2	4	1	4	2	1	3	1	2	1	6	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:29454467G>A	ENST00000283351.4	-	13	2264	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	TRAPPC8_ENST00000582539.1_Silent_p.L589L|TRAPPC8_ENST00000582513.1_Silent_p.L643L	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	643					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						GATATTCTCTGAGGAAAGCCC	0.328																																																	0													71	71	71					18																	29454467		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1929C>T	18.37:g.29454467G>A			A0JP15|B3KME5|Q9H0L2	Silent	SNP	NULL	p.L643	ENST00000283351.4	37	c.1929	CCDS11901.1	18																																																																																			TRAPPC8	-	NULL	ENSG00000153339		0.328	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	-	0	34	0	G	NM_014939		29454467	-1	tier1	-	no_errors	ENST00000283351	ensembl	human	known	74_37	silent	12.50	63	9	SNP	0.987	A	A	29454467	G	A	29454467	2	1	160	1	0	0	0	0	0	0	0	1	8231	1277	45	3		3	KIAA1012	18	29454467	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	3922258	29454467	48622781	356	40853											
ZNF24	7572	genome.wustl.edu	37	chr18	32917454	32917454	+	Silent	SNP	C	C	T	0	0	0	1	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	cggctgaatgctttcccacaCtcaacacatccataaggttt	11	11	6	13	1	1	1	1	1	0	0	3	1	3	1	2	2	2	3	2	2	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:32917454C>T	ENST00000261332.6	-	4	1028	c.849G>A	c.(847-849)gaG>gaA	p.E283E	ZNF24_ENST00000399061.3_Silent_p.E283E|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	283	Necessary and sufficient for nuclear localization.				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						CTTTCCCACACTCAACACATC	0.423																																					Colon(42;769 913 8916 19469 46270)												0													111	114	113					18																	32917454		2203	4300	6503	SO:0001819	synonymous_variant	0			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.849G>A	18.37:g.32917454C>T			O14754|Q53YE4|Q6ICR5|Q8IZN4	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E283	ENST00000261332.6	37	c.849	CCDS11912.1	18																																																																																			ZNF24	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172466		0.423	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF24	HGNC	protein_coding	OTTHUMT00000255769.1		0	33	0	C	NM_006965		32917454	-1			no_errors	ENST00000261332	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.683	T	T	32917454	C	T	32917454	2	4	160	1	0	0	0	0	0	0	0	1	17840	564	20	3		3	ZNF24	18	32917454	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	3462987	32917454	45159794	357	40854											
SETBP1	26040	genome.wustl.edu	37	chr18	42531093	42531093	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaagaagcagcctttgctCacagtcgagacgattcatga	13	8	9	11	2	2	3	2	1	0	2	3	5	2	3	2	0	3	2	2	0	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:42531093C>T	ENST00000282030.5	+	4	2084	c.1788C>T	c.(1786-1788)ctC>ctT	p.L596L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	596						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)		AGCCTTTGCTCACAGTCGAGA	0.522									Schinzel-Giedion syndrome																																								0													72	70	71					18																	42531093		2203	4300	6503	SO:0001819	synonymous_variant	0	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.1788C>T	18.37:g.42531093C>T			A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	smart_AT_hook_DNA-bd_motif	p.L596	ENST00000282030.5	37	c.1788	CCDS11923.2	18																																																																																			SETBP1	-	smart_AT_hook_DNA-bd_motif	ENSG00000152217		0.522	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0	48	0	C	NM_001130110		42531093	1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	silent	10.77	58	7	SNP	1.000	T	T	42531093	C	T	42531093	2	4	160	1	0	0	0	0	0	0	0	1	14174	813	29	3		3	SETBP1	18	42531093	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	9613639	42531093	35546155	358	40855											
MBD1	4152	genome.wustl.edu	37	chr18	47802019	47802019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	actggcgcctgagaccagggCggggagggcgaaggcagatg	9	3	20	9	3	0	2	0	1	0	2	0	5	0	3	2	6	0	1	2	6	1	0	rs376154307		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:47802019C>T	ENST00000591416.1	-	8	1174	c.743G>A	c.(742-744)cGc>cAc	p.R248H	MBD1_ENST00000269468.5_Missense_Mutation_p.R248H|MBD1_ENST00000398495.2_Missense_Mutation_p.R248H|MBD1_ENST00000424334.2_Missense_Mutation_p.R274H|MBD1_ENST00000436910.1_Missense_Mutation_p.R248H|MBD1_ENST00000588937.1_Missense_Mutation_p.R248H|MBD1_ENST00000590208.1_Missense_Mutation_p.R248H|MBD1_ENST00000585672.1_Missense_Mutation_p.R199H|MBD1_ENST00000587605.1_Missense_Mutation_p.R248H|MBD1_ENST00000591535.1_Missense_Mutation_p.R248H|MBD1_ENST00000382948.5_Missense_Mutation_p.R248H|MBD1_ENST00000349085.2_Missense_Mutation_p.R248H|MBD1_ENST00000347968.3_Missense_Mutation_p.R248H|MBD1_ENST00000457839.2_Missense_Mutation_p.R248H|MBD1_ENST00000353909.3_Missense_Mutation_p.R199H|MBD1_ENST00000269471.5_Missense_Mutation_p.R248H|MBD1_ENST00000398493.1_Missense_Mutation_p.R248H|MBD1_ENST00000585595.1_Missense_Mutation_p.R248H|MBD1_ENST00000339998.6_Missense_Mutation_p.R248H|MBD1_ENST00000398488.1_Missense_Mutation_p.R248H			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	248					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)			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						GAGACCAGGGCGGGGAGGGCG	0.627																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	51	49	50		743,743,743,743,743,596,743,743,743,743,743,743,743,596	4.6	1	18		50	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	MBD1	NM_001204136.1,NM_001204137.1,NM_001204138.1,NM_001204139.1,NM_001204140.1,NM_001204141.1,NM_001204142.1,NM_001204143.1,NM_001204151.1,NM_002384.2,NM_015844.2,NM_015845.3,NM_015846.3,NM_015847.3	29,29,29,29,29,29,29,29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/656,248/631,248/630,248/606,248/575,199/568,248/551,248/536,248/537,248/504,248/550,248/587,248/606,199/557	47802019	1,13005	2203	4300	6503	SO:0001583	missense	0			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.743G>A	18.37:g.47802019C>T	ENSP00000467017:p.Arg248His		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.R274H	ENST00000591416.1	37	c.821	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187953	0.78789	0.0	1.16E-4	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	0.96104	-3.91;-3.76;-3.83;-3.91;-3.83;-3.83;-3.83;-3.79;-3.89;-3.83;-3.78;-3.83;-3.83	5.46	4.58	0.56647	Zinc finger, CXXC-type (2);	0.098131	0.41823	D	0.000806	D	0.95626	0.8578	L	0.44542	1.39	0.32877	D	0.509961	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	0.87578	0.994;0.998;0.984;0.993;0.984;0.997;0.987;0.958;0.993;0.989;0.993;0.998	D	0.94960	0.8107	10	0.72032	D	0.01	-15.9063	7.6689	0.28447	0.0:0.8252:0.0:0.1748	.	248;274;248;248;248;248;199;248;248;248;248;248	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	H	248;199;248;248;248;248;248;274;248;248;248;248;248	ENSP00000372407:R248H;ENSP00000269469:R199H;ENSP00000342531:R248H;ENSP00000269468:R248H;ENSP00000285102:R248H;ENSP00000409561:R248H;ENSP00000269471:R248H;ENSP00000408846:R274H;ENSP00000339546:R248H;ENSP00000381508:R248H;ENSP00000405268:R248H;ENSP00000381506:R248H;ENSP00000381502:R248H	ENSP00000269468:R248H	R	-	2	0	MBD1	46056017	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.630000	0.37081	2.735000	0.93741	0.655000	0.94253	CGC	MBD1	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000141644		0.627	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3		0	50	0	C	NM_015846		47802019	-1			no_errors	ENST00000424334	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	47802019	C	T	47802019	3	4	160	1	0	0	0	0	1	0	0	0	9380	768	27	1	1304	1	MBD1	18	47802019	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	5270926	47802019	30275229	359	40856											
ST8SIA3	51046	genome.wustl.edu	37	chr18	55021741	55021741	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatttaatcggacagcGtttttacatcaaaggtagga	14	12	10	5	2	1	0	1	0	0	0	2	3	1	3	0	4	2	2	0	4	5	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:55021741G>A	ENST00000324000.3	+	2	2322	c.288G>A	c.(286-288)gcG>gcA	p.A96A		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	96					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|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)	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)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ATCGGACAGCGTTTTTACATC	0.388																																																	0													100	100	100					18																	55021741		2203	4300	6503	SO:0001819	synonymous_variant	0			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.288G>A	18.37:g.55021741G>A			A8K0F2|Q6B085|Q9NS41	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.A96	ENST00000324000.3	37	c.288	CCDS32834.1	18																																																																																			ST8SIA3	-	pirsf_Sialyl_trans	ENSG00000177511		0.388	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ST8SIA3	HGNC	protein_coding	OTTHUMT00000449765.1	-	0	78	0	G	NM_015879		55021741	1	tier1	-	no_errors	ENST00000324000	ensembl	human	known	74_37	silent	19.12	55	13	SNP	1.000	A	A	55021741	G	A	55021741	2	1	160	1	0	0	0	0	0	0	0	1	15280	1132	40	1		1	ST8SIA3	18	55021741	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	7219722	55021741	23055507	360	40857											
REXO1	57455	genome.wustl.edu	37	chr19	1816110	1816110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaaccttccagatcaccagGtgcatgcaggcgccggcgtc	8	6	12	15	4	1	1	1	0	0	1	3	2	2	1	4	3	3	2	4	3	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:1816110G>T	ENST00000170168.4	-	16	3715	c.3621C>A	c.(3619-3621)caC>caA	p.H1207Q	CTB-31O20.3_ENST00000586259.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1207	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCACCAGGTGCATGCAGG	0.701																																																	0													70	43	52					19																	1816110		2126	4162	6288	SO:0001583	missense	0			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3621C>A	19.37:g.1816110G>T	ENSP00000170168:p.His1207Gln		Q9ULT2	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.H1207Q	ENST00000170168.4	37	c.3621	CCDS32866.1	19	.	.	.	.	.	.	.	.	.	.	g	13.65	2.301632	0.40694	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.20463	2.07	4.76	0.686	0.18015	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.112628	0.64402	D	0.000016	T	0.06826	0.0174	N	0.01277	-0.915	0.27190	N	0.960447	B;B	0.20988	0.012;0.05	B;B	0.28385	0.012;0.089	T	0.38542	-0.9656	10	0.22706	T	0.39	-30.7517	9.4376	0.38648	0.0:0.5174:0.2947:0.1878	.	516;1207	B4DWY3;Q8N1G1	.;REXO1_HUMAN	Q	1207;479	ENSP00000170168:H1207Q	ENSP00000170168:H1207Q	H	-	3	2	REXO1	1767110	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.178000	0.42519	0.513000	0.28278	-0.225000	0.12378	CAC	REXO1	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000079313		0.701	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	-	0	55	0	G	NM_020695		1816110	-1	tier1	-	no_errors	ENST00000170168	ensembl	human	known	74_37	missense	9.09	60	6	SNP	1.000	T	T	1816110	G	T	1816110	3	4	160	1	0	0	0	0	1	0	0	0	13286	1252	44	3	48	3	REXO1	19	1816110	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09		1816110	57312873	361	40858											
PTPRS	5802	genome.wustl.edu	37	chr19	5240212	5240212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccccgcgctgcctcacctCccggccatggtcgccttccc	2	8	9	22	4	1	0	1	0	0	0	5	0	4	0	8	2	1	1	8	2	0	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:5240212C>T	ENST00000587303.1	-	11	1801	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	PTPRS_ENST00000357368.4_Missense_Mutation_p.E568K|PTPRS_ENST00000588012.1_Missense_Mutation_p.E555K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E555K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.E555K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E564K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E555K|PTPRS_ENST00000372412.4_Missense_Mutation_p.E569K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	568	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGCCTCACCTCCCGGCCATGG	0.682																																																	0													16	15	15					19																	5240212		2139	4173	6312	SO:0001583	missense	0			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.1702G>A	19.37:g.5240212C>T	ENSP00000467537:p.Glu568Lys		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.E569K	ENST00000587303.1	37	c.1705	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615688	0.66672	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	3.36	3.36	0.38483	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.164913	0.38548	U	0.001647	T	0.43299	0.1241	L	0.33710	1.025	0.45541	D	0.998493	B;B;B;B;B;B	0.24618	0.0;0.0;0.004;0.079;0.107;0.0	B;B;B;B;B;B	0.28305	0.009;0.002;0.01;0.034;0.088;0.003	T	0.40440	-0.9563	10	0.35671	T	0.21	.	14.9445	0.71020	0.0:1.0:0.0:0.0	.	568;555;559;555;568;581	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	K	581;569;568;568;568;564;555;568;559;555	ENSP00000361489:E569K;ENSP00000349932:E568K;ENSP00000262963:E564K;ENSP00000269907:E555K;ENSP00000327313:E555K	ENSP00000262963:E564K	E	-	1	0	PTPRS	5191212	0.975000	0.34042	0.999000	0.59377	0.575000	0.36095	2.142000	0.42177	1.745000	0.51790	0.479000	0.44913	GAG	PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105426		0.682	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0	100	0	C			5240212	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	missense	12.33	64	9	SNP	0.997	T	T	5240212	C	T	5240212	3	4	160	1	0	0	0	0	1	0	0	0	12856	864	30	3	4252	3	PTPRS	19	5240212	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	3424102	5240212	53888771	362	40859											
RPL36	25873	genome.wustl.edu	37	chr19	5691411	5691411	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtacgagcggcgcgccatgGagttactgaaggtctccaag	9	7	14	11	5	1	1	0	1	1	0	2	3	1	2	2	3	3	2	2	3	4	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:5691411G>T	ENST00000577222.1	+	5	719	c.175G>T	c.(175-177)Gag>Tag	p.E59*	RPL36_ENST00000579649.1_Nonsense_Mutation_p.E59*|RPL36_ENST00000347512.3_Nonsense_Mutation_p.E59*|RPL36_ENST00000394580.2_Nonsense_Mutation_p.E59*|RPL36_ENST00000579446.1_Nonsense_Mutation_p.E59*			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	59					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GCGCGCCATGGAGTTACTGAA	0.617											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61	65	63					19																	5691411		2203	4300	6503	SO:0001587	stop_gained	0				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.175G>T	19.37:g.5691411G>T	ENSP00000464342:p.Glu59*	628	B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Nonsense_Mutation	SNP	pfam_Ribosomal_L36e	p.E59*	ENST00000577222.1	37	c.175	CCDS12147.1	19	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318689	0.60524	.	.	ENSG00000130255	ENST00000347512;ENST00000394580	.	.	.	4.31	4.31	0.51392	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.284	0.66232	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000252543:E59X	E	+	1	0	RPL36	5642411	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.721000	0.84768	1.942000	0.56320	0.467000	0.42956	GAG	RPL36	-	pfam_Ribosomal_L36e	ENSG00000130255		0.617	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	RPL36	HGNC	protein_coding	OTTHUMT00000442561.1	-	0	116	0	G	NM_015414		5691411	1	tier1	-	no_errors	ENST00000347512	ensembl	human	known	74_37	nonsense	8.82	92	9	SNP	1.000	T	T	5691411	G	T	5691411	4	4	160	1	0	0	0	0	0	1	0	0	13631	1175	41	3	181	3	RPL36	19	5691411	Nonsense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	451199	5691411	53437572	363	40860											
ZNF791	163049	genome.wustl.edu	37	chr19	12739050	12739050	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctattcgagtacacgaaaGaactcacactggagagaaac	16	8	8	9	2	2	2	1	0	1	2	3	6	2	3	0	1	3	1	0	1	5	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:12739050G>C	ENST00000343325.4	+	4	869	c.707G>C	c.(706-708)aGa>aCa	p.R236T	ZNF791_ENST00000458122.3_Missense_Mutation_p.R204T|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.R127T|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GTACACGAAAGAACTCACACT	0.423																																																	0													59	56	57					19																	12739050		2203	4300	6503	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.707G>C	19.37:g.12739050G>C	ENSP00000342974:p.Arg236Thr		B7Z586|Q8NC99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R236T	ENST00000343325.4	37	c.707	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902618	0.52227	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.25414	1.8;1.8;1.8	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43144	0.1234	M	0.71920	2.185	0.30692	N	0.751256	D	0.89917	1.0	D	0.97110	1.0	T	0.40346	-0.9568	9	0.59425	D	0.04	.	4.3047	0.10940	0.2129:0.0:0.7871:0.0	.	236	Q3KP31	ZN791_HUMAN	T	236;218;204;127	ENSP00000342974:R236T;ENSP00000441761:R204T;ENSP00000441038:R127T	ENSP00000342974:R236T	R	+	2	0	ZNF791	12600050	0.199000	0.23386	0.952000	0.39060	0.782000	0.44232	2.946000	0.49050	1.007000	0.39238	0.491000	0.48974	AGA	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173875		0.423	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	-	0	76	0	G	NM_153358		12739050	1	tier1	-	no_errors	ENST00000343325	ensembl	human	known	74_37	missense	10.53	68	8	SNP	0.948	C	C	12739050	G	C	12739050	3	2	160	1	0	0	0	0	1	0	0	0	18211	942	33	5	721	5	ZNF791	19	12739050	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	7047639	12739050	46389933	364	40861											
CYP4F22	126410	genome.wustl.edu	37	chr19	15648458	15648458	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaagatcttcaaccagagCgctgacattatgcatgtgag	13	10	10	8	1	2	5	1	3	1	2	2	5	2	5	1	0	3	2	1	0	3	2	rs377373101		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:15648458C>T	ENST00000269703.3	+	6	733	c.534C>T	c.(532-534)agC>agT	p.S178S	CYP4F22_ENST00000601005.2_Silent_p.S178S	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	178			S -> C (in dbSNP:rs16980531).			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						TCAACCAGAGCGCTGACATTA	0.547																																																	0								C		0,4406		0,0,2203	114	110	112		534	1.5	0	19		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYP4F22	NM_173483.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		178/532	15648458	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				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.534C>T	19.37:g.15648458C>T			Q8N8H4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.S178	ENST00000269703.3	37	c.534	CCDS12331.1	19																																																																																			CYP4F22	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000171954		0.547	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	HGNC	protein_coding	OTTHUMT00000461338.2		0	44	0	C	NM_173483		15648458	1			no_errors	ENST00000269703	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.035	T	T	15648458	C	T	15648458	2	4	160	1	0	0	0	0	0	0	0	1	4198	767	27	1		1	CYP4F22	19	15648458	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	2909408	15648458	43480525	365	40862											
CYP4F8	11283	genome.wustl.edu	37	chr19	15740032	15740032	+	RNA	SNP	C	C	T	0	0	0	1	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	cgggcagaagttcgcgatggCagagatgaaggtggtcctgg	9	7	18	7	3	0	3	0	1	0	2	2	5	1	3	1	5	0	3	1	5	2	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:15740032C>T	ENST00000441682.2	+	0	1488							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTCGCGATGGCAGAGATGAAG	0.657																																																	0													39	38	38					19																	15740032		2203	4300	6503			0			AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15740032C>T				RNA	SNP	-	NULL	ENST00000441682.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	8.153	0.787822	0.16258	.	.	ENSG00000186526	ENST00000441682;ENST00000325723	.	.	.	3.42	-2.17	0.07059	.	0.521439	0.18085	U	0.152171	T	0.35998	0.0951	.	.	.	0.38704	D	0.953060	B;B	0.20887	0.049;0.022	B;B	0.37387	0.248;0.111	T	0.36359	-0.9751	7	0.39692	T	0.17	.	2.7464	0.05268	0.2919:0.4598:0.1463:0.1019	.	288;476	B4DU85;P98187	.;CP4F8_HUMAN	V	475;288	.	ENSP00000314398:A288V	A	+	2	0	CYP4F8	15601032	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	-0.014000	0.12656	-0.601000	0.05783	0.436000	0.28706	GCA	CYP4F8	-	-	ENSG00000186526		0.657	CYP4F8-201	KNOWN	basic	processed_transcript	CYP4F8	HGNC	processed_transcript		-	0	106	0	C	NM_007253		15740032	1	tier1	-	no_errors	ENST00000325723	ensembl	human	known	74_37	rna	5.88	64	4	SNP	0.170	T	T	15740032	C	T	15740032	1	4	160	0	1	0	0	0	0	0	0	0	4200	710	25	3		3	CYP4F8	19	15740032	RNA	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	91574	15740032	43388951	366	40863											
MAST3	23031	genome.wustl.edu	37	chr19	18255930	18255930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtgtgtggcagcctgcGgccccccatcgttatccaca	5	8	10	18	3	0	0	0	0	0	0	2	0	1	0	7	2	2	2	7	2	1	1	rs375981013		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:18255930G>A	ENST00000262811.6	+	23	2843	c.2843G>A	c.(2842-2844)cGg>cAg	p.R948Q	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	948							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						GGCAGCCTGCGGCCCCCCATC	0.652																																																	0								G	GLN/ARG	0,4060		0,0,2030	82	89	86		2843	4.7	1	19		86	1,8365		0,1,4182	no	missense	MAST3	NM_015016.1	43	0,1,6212	AA,AG,GG		0.012,0.0,0.0080	possibly-damaging	948/1310	18255930	1,12425	2030	4183	6213	SO:0001583	missense	0			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.2843G>A	19.37:g.18255930G>A	ENSP00000262811:p.Arg948Gln		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R948Q	ENST00000262811.6	37	c.2843	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763725	0.49574	0.0	1.2E-4	ENSG00000099308	ENST00000262811	T	0.46063	0.88	4.72	4.72	0.59763	PDZ/DHR/GLGF (1);	0.136067	0.46442	D	0.000282	T	0.37571	0.1008	L	0.49640	1.575	0.43292	D	0.995278	B	0.31125	0.309	B	0.21151	0.033	T	0.29822	-0.9999	10	0.45353	T	0.12	-24.4878	16.6471	0.85179	0.0:0.0:1.0:0.0	.	948	O60307	MAST3_HUMAN	Q	948	ENSP00000262811:R948Q	ENSP00000262811:R948Q	R	+	2	0	MAST3	18116930	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	4.122000	0.57910	2.178000	0.69098	0.313000	0.20887	CGG	MAST3	-	superfamily_PDZ	ENSG00000099308		0.652	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	-	0	109	0	G	XM_038150		18255930	1	tier1	-	no_errors	ENST00000262811	ensembl	human	known	74_37	missense	7.55	98	8	SNP	1.000	A	A	18255930	G	A	18255930	3	1	160	1	0	0	0	0	1	0	0	0	9364	1116	39	1	2933	1	MAST3	19	18255930	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2515898	18255930	40873053	367	40864											
ATP13A1	57130	genome.wustl.edu	37	chr19	19758523	19758523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtcccggggccgccgtCgccgctcgacaacccgctca	4	5	13	19	7	1	0	1	0	0	0	4	1	2	0	5	3	1	3	5	3	1	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:19758523C>A	ENST00000357324.6	-	20	2704	c.2678G>T	c.(2677-2679)cGa>cTa	p.R893L	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R775L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	893	Poly-Arg.					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						GGGCCGCCGTCGCCGCTCGAC	0.697																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												0													17	17	17					19																	19758523		2202	4298	6500	SO:0001583	missense	0			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.2678G>T	19.37:g.19758523C>A	ENSP00000349877:p.Arg893Leu		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.R893L	ENST00000357324.6	37	c.2678	CCDS32970.2	19	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414748	0.42817	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.82167	-1.57;-1.58	5.26	4.22	0.49857	.	0.898439	0.09231	N	0.830584	T	0.75140	0.3809	L	0.36672	1.1	0.39537	D	0.968756	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.002	T	0.64740	-0.6336	10	0.27785	T	0.31	-15.6252	8.1153	0.30940	0.0:0.8175:0.0:0.1825	.	893;775	Q9HD20;Q9HD20-2	AT131_HUMAN;.	L	775;893	ENSP00000291503:R775L;ENSP00000349877:R893L	ENSP00000291503:R775L	R	-	2	0	ATP13A1	19619523	0.790000	0.28787	0.934000	0.37439	0.893000	0.52053	1.137000	0.31479	1.223000	0.43536	0.655000	0.94253	CGA	ATP13A1	-	tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000105726		0.697	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	-	0	31	0	C	NM_020410		19758523	-1	tier1	-	no_errors	ENST00000357324	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.867	A	A	19758523	C	A	19758523	3	1	160	1	0	0	0	0	1	0	0	0	1124	884	31	2	964	2	ATP13A1	19	19758523	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1502593	19758523	39370460	368	40865											
ZNF676	163223	genome.wustl.edu	37	chr19	22375873	22375873	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccagggctcttttccttgCtccagaaaaatgatcaggtc	9	13	8	11	0	2	2	1	1	1	1	6	2	5	2	3	2	1	2	3	2	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:22375873C>A	ENST00000397121.2	-	2	392	c.75G>T	c.(73-75)gaG>gaT	p.E25D		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)				CTTTTCCTTGCTCCAGAAAAA	0.403																																																	0													96	117	109					19																	22375873		1511	2709	4220	SO:0001583	missense	0			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.75G>T	19.37:g.22375873C>A	ENSP00000380310:p.Glu25Asp		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E25D	ENST00000397121.2	37	c.75	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	15.95	2.982608	0.53827	.	.	ENSG00000196109	ENST00000397121	T	0.01113	5.32	0.784	0.784	0.18578	Krueppel-associated box (3);	.	.	.	.	T	0.04363	0.0120	M	0.90870	3.155	0.20926	N	0.999821	P	0.46578	0.88	P	0.50270	0.636	T	0.17745	-1.0359	9	0.87932	D	0	.	4.7436	0.13026	0.0:1.0:0.0:0.0	.	25	Q8N7Q3	ZN676_HUMAN	D	25	ENSP00000380310:E25D	ENSP00000380310:E25D	E	-	3	2	ZNF676	22167713	0.681000	0.27614	0.711000	0.30485	0.714000	0.41099	-0.173000	0.09854	0.181000	0.19994	0.184000	0.17185	GAG	ZNF676	-	superfamily_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196109		0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	141	0	C	NM_001001411		22375873	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	15.87	159	30	SNP	0.923	A	A	22375873	C	A	22375873	3	1	160	1	0	0	0	0	1	0	0	0	18131	796	28	3	1699	3	ZNF676	19	22375873	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	2617350	22375873	36753110	369	40866											
TSHZ3	57616	genome.wustl.edu	37	chr19	31770618	31770618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgggtctaaaccttcGtccaccagggcagcagcctt	7	10	9	15	1	2	0	0	0	2	0	5	0	4	0	5	2	3	2	5	2	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:31770618G>A	ENST00000240587.4	-	2	408	c.81C>T	c.(79-81)gaC>gaT	p.D27D		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	27					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)					CTAAACCTTCGTCCACCAGGG	0.567																																																	0													52	53	53					19																	31770618		1959	4158	6117	SO:0001819	synonymous_variant	0			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.81C>T	19.37:g.31770618G>A			Q9H0G6|Q9P254	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.D27	ENST00000240587.4	37	c.81	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.567	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0	66	0	G	NM_020856		31770618	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	silent	43.55	35	27	SNP	0.000	A	A	31770618	G	A	31770618	2	1	160	1	0	0	0	0	0	0	0	1	16673	1136	40	1		1	TSHZ3	19	31770618	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	9394745	31770618	27358365	370	40867											
RYR1	6261	genome.wustl.edu	37	chr19	39061283	39061283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttacaccctgcggttcCttgccctcttcttggcattt	4	17	6	14	1	2	0	0	0	2	0	3	0	3	0	3	2	3	2	3	2	1	7			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:39061283C>T	ENST00000359596.3	+	94	13696	c.13696C>T	c.(13696-13698)Ctt>Ttt	p.L4566F	RYR1_ENST00000360985.3_Missense_Mutation_p.L4561F|RYR1_ENST00000355481.4_Missense_Mutation_p.L4561F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4566					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)	CCTGCGGTTCCTTGCCCTCTT	0.507																																																	0													207	195	199					19																	39061283		2203	4300	6503	SO:0001583	missense	0			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.13696C>T	19.37:g.39061283C>T	ENSP00000352608:p.Leu4566Phe		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L4566F	ENST00000359596.3	37	c.13696	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213107	0.39102	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95756	-3.8;-3.8;-3.8	5.1	5.1	0.69264	Ryanodine Receptor TM 4-6 (1);	0.000000	0.53938	U	0.000057	D	0.97760	0.9265	M	0.82323	2.585	0.46609	D	0.999124	D;D	0.76494	0.999;0.999	D;D	0.75020	0.974;0.985	D	0.98314	1.0525	10	0.72032	D	0.01	.	18.2978	0.90153	0.0:1.0:0.0:0.0	.	4561;4566	P21817-2;P21817	.;RYR1_HUMAN	F	4566;4561;4561	ENSP00000352608:L4566F;ENSP00000347667:L4561F;ENSP00000354254:L4561F	ENSP00000347667:L4561F	L	+	1	0	RYR1	43753123	0.810000	0.29049	0.995000	0.50966	0.983000	0.72400	0.596000	0.24044	2.659000	0.90383	0.561000	0.74099	CTT	RYR1	-	pfam_Ryanrecept_TM4-6	ENSG00000196218		0.507	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0	77	0	C			39061283	1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	17.28	67	14	SNP	1.000	T	T	39061283	C	T	39061283	3	4	160	1	0	0	0	0	1	0	0	0	13813	681	24	3	14070	3	RYR1	19	39061283	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	7290665	39061283	20067700	371	40868											
LGALS4	3960	genome.wustl.edu	37	chr19	39292410	39292410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccccaggaatagattagatCtggacataggacaaggtgac	14	7	12	8	0	1	3	0	1	1	2	1	6	1	6	2	4	0	0	2	4	5	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:39292410C>G	ENST00000307751.4	-	10	1443	c.966G>C	c.(964-966)caG>caC	p.Q322H		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	322	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TAGATTAGATCTGGACATAGG	0.493																																																	0													95	86	89					19																	39292410		2203	4300	6503	SO:0001583	missense	0				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"Lectins, galactoside-binding"	6565	protein-coding gene	gene with protein product	"galectin 4"	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.966G>C	19.37:g.39292410C>G	ENSP00000302100:p.Gln322His			Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.Q322H	ENST00000307751.4	37	c.966	CCDS12521.1	19	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604450	0.28623	.	.	ENSG00000171747	ENST00000307751	T	0.05258	3.47	5.14	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.251179	0.38837	N	0.001542	T	0.06600	0.0169	L	0.35593	1.075	0.42567	D	0.993165	B	0.14805	0.011	B	0.19391	0.025	T	0.24977	-1.0145	10	0.40728	T	0.16	-26.0803	12.7021	0.57038	0.0:0.9173:0.0:0.0827	.	322	P56470	LEG4_HUMAN	H	322	ENSP00000302100:Q322H	ENSP00000302100:Q322H	Q	-	3	2	LGALS4	43984250	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	0.863000	0.27913	1.163000	0.42636	0.491000	0.48974	CAG	LGALS4	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	ENSG00000171747		0.493	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS4	HGNC	protein_coding	OTTHUMT00000462641.1	-	0	109	0	C	NM_006149		39292410	-1	tier1	-	no_errors	ENST00000307751	ensembl	human	known	74_37	missense	7.14	78	6	SNP	1.000	G	G	39292410	C	G	39292410	3	3	160	1	0	0	0	0	1	0	0	0	8773	912	32	5	9	5	LGALS4	19	39292410	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	231127	39292410	19836573	372	40869											
SELV	348303	genome.wustl.edu	37	chr19	40006462	40006462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctggccgcgaactcacccGggcccaccctggacttcacc	6	5	10	20	4	2	0	2	0	0	0	2	2	2	1	5	3	1	1	5	3	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:40006462G>A	ENST00000335426.4	+	1	710	c.610G>A	c.(610-612)Ggg>Agg	p.G204R	SELV_ENST00000423711.1_Missense_Mutation_p.G204R	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		204					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	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)			GAACTCACCCGGGCCCACCCT	0.741																																																	0													6	8	7					19																	40006462		1731	3806	5537	SO:0001583	missense	0																														ENST00000335426.4:c.610G>A	19.37:g.40006462G>A	ENSP00000333956:p.Gly204Arg		Q17RG5	Missense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.G204R	ENST00000335426.4	37	c.610	CCDS54266.1	19	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619605	0.28801	.	.	ENSG00000186838	ENST00000335426;ENST00000423711	T;T	0.47869	0.83;0.83	2.89	2.89	0.33648	.	.	.	.	.	T	0.37517	0.1006	L	0.48642	1.525	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.17684	-1.0361	9	0.18276	T	0.48	-3.7205	9.9676	0.41734	0.0:0.0:1.0:0.0	.	204	P59797	SELV_HUMAN	R	204	ENSP00000333956:G204R;ENSP00000412508:G204R	ENSP00000333956:G204R	G	+	1	0	AC011500.1	44698302	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.563000	0.23547	1.597000	0.50072	0.449000	0.29647	GGG	SELV	-	NULL	ENSG00000186838		0.741	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELV	Uniprot_gn	protein_coding	OTTHUMT00000389802.1	-	0	49	0	G			40006462	1	tier1	-	no_errors	ENST00000423711	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.013	A	A	40006462	G	A	40006462	3	1	160	1	0	0	0	0	1	0	0	0	14068	1116	39	1	612	1	SELV	19	40006462	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	714052	40006462	19122521	373	40870											
FCGBP	8857	genome.wustl.edu	37	chr19	40408618	40408618	+	Silent	SNP	T	T	C	0	1	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	tcattggcgttgcctgcctgTgagccattgggcttctggaa	5	13	13	10	1	2	1	1	1	1	0	2	2	2	2	3	3	3	2	3	3	1	4	rs150256945	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:40408618T>C	ENST00000221347.6	-	8	4228	c.4221A>G	c.(4219-4221)tcA>tcG	p.S1407S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1407	VWFD 3. {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)			TGCCTGCCTGTGAGCCATTGG	0.642													T|||	4	0.000798722	0.0015	0.0014	5008	,	,		19055	0		0	False		,,,				2504	0.001																0													108	98	101					19																	40408618		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4221A>G	19.37:g.40408618T>C			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.S1407	ENST00000221347.6	37	c.4221	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D	ENSG00000090920		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	176	0	T	NM_003890		40408618	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	10.84	181	22	SNP	0.000	C	C	40408618	T	C	40408618	2	2	160	1	0	0	0	0	0	0	0	1	5800	1683	59	4		4	FCGBP	19	40408618	Silent	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	402156	40408618	18720365	374	40871											
CNTD2	79935	genome.wustl.edu	37	chr19	40729351	40729351	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggcacagcagcgggccggGgtggtgcagccggaaatcca	9	3	18	11	3	0	0	0	0	0	0	1	2	1	1	3	6	4	3	3	6	1	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:40729351G>C	ENST00000430325.2	-	4	664	c.616C>G	c.(616-618)Ccc>Gcc	p.P206A	CNTD2_ENST00000513948.1_Missense_Mutation_p.P100A	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	206					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						AGCGGGCCGGGGTGGTGCAGC	0.736																																																	0													7	11	10					19																	40729351		683	1579	2262	SO:0001583	missense	0			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.616C>G	19.37:g.40729351G>C	ENSP00000396755:p.Pro206Ala		B4DX65	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.P206A	ENST00000430325.2	37	c.616	CCDS12551.2	19	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199218	0.38806	.	.	ENSG00000105219	ENST00000430325;ENST00000513948	T;T	0.50548	0.74;1.07	4.02	1.71	0.24356	.	.	.	.	.	T	0.33381	0.0861	N	0.24115	0.695	0.18873	N	0.999988	P	0.34724	0.465	B	0.36186	0.219	T	0.25779	-1.0122	9	0.66056	D	0.02	.	8.2906	0.31954	0.2057:0.0:0.7943:0.0	.	206	B4DX65	.	A	206;100	ENSP00000396755:P206A;ENSP00000425529:P100A	ENSP00000396755:P206A	P	-	1	0	CNTD2	45421191	0.945000	0.32115	0.155000	0.22561	0.145000	0.21501	1.035000	0.30216	0.872000	0.35775	0.561000	0.74099	CCC	CNTD2	-	superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000105219		0.736	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD2	HGNC	protein_coding	OTTHUMT00000360785.1		0	66	0	G	NM_024877		40729351	-1			no_errors	ENST00000430325	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.133	C	C	40729351	G	C	40729351	3	2	160	1	0	0	0	0	1	0	0	0	3643	1232	43	5	315	5	CNTD2	19	40729351	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	320733	40729351	18399632	375	40872											
NUMBL	9253	genome.wustl.edu	37	chr19	41183321	41183321	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacagcgtggctcagcctCtcgccctatggggagaggat	7	7	13	14	2	2	1	1	0	1	1	3	3	2	2	3	4	2	1	3	4	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:41183321C>G	ENST00000252891.4	-	7	713	c.546G>C	c.(544-546)gaG>gaC	p.E182D	NUMBL_ENST00000540131.1_Missense_Mutation_p.E141D|NUMBL_ENST00000598779.1_Missense_Mutation_p.E141D	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	182	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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)			GGCTCAGCCTCTCGCCCTATG	0.667																																																	0													20	21	21					19																	41183321		2200	4298	6498	SO:0001583	missense	0			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.546G>C	19.37:g.41183321C>G	ENSP00000252891:p.Glu182Asp		Q7Z4J9	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.E182D	ENST00000252891.4	37	c.546	CCDS12561.1	19	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247841	0.80024	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.21543	2.0;2.0	5.31	3.16	0.36331	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	M	0.85197	2.74	0.80722	D	1	B;B	0.32128	0.357;0.357	B;B	0.30495	0.116;0.116	T	0.16247	-1.0409	10	0.87932	D	0	-27.0671	8.8388	0.35129	0.0:0.7587:0.0:0.2413	.	182;182	A8K033;Q9Y6R0	.;NUMBL_HUMAN	D	182;141	ENSP00000252891:E182D;ENSP00000442759:E141D	ENSP00000252891:E182D	E	-	3	2	NUMBL	45875161	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.057000	0.49931	1.229000	0.43630	0.655000	0.94253	GAG	NUMBL	-	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	ENSG00000105245		0.667	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	HGNC	protein_coding	OTTHUMT00000462749.2	-	0	133	0	C	NM_004756		41183321	-1	tier1	-	no_errors	ENST00000252891	ensembl	human	known	74_37	missense	8.16	90	8	SNP	1.000	G	G	41183321	C	G	41183321	3	3	160	1	0	0	0	0	1	0	0	0	10791	912	32	5	1299	5	NUMBL	19	41183321	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	453970	41183321	17945662	376	40873											
ADCK4	79934	genome.wustl.edu	37	chr19	41208582	41208582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgcaaggcctgcaggctCtgctcggcaaacaggcctgt	7	8	13	13	1	1	0	0	0	1	0	2	0	1	0	2	4	5	6	2	4	2	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:41208582C>G	ENST00000324464.3	-	10	1117	c.816G>C	c.(814-816)caG>caC	p.Q272H	ADCK4_ENST00000450541.1_Missense_Mutation_p.Q231H|ADCK4_ENST00000243583.6_Missense_Mutation_p.Q231H	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	272	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)			CCTGCAGGCTCTGCTCGGCAA	0.637											OREG0025476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71	62	65					19																	41208582		2203	4300	6503	SO:0001583	missense	0			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.816G>C	19.37:g.41208582C>G	ENSP00000315118:p.Gln272His	899	Q8TAJ1|Q9HA52	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.Q272H	ENST00000324464.3	37	c.816	CCDS12562.1	19	.	.	.	.	.	.	.	.	.	.	C	9.979	1.227584	0.22542	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.55588	0.51;0.51;0.51	5.27	3.11	0.35812	ABC-1 (1);Protein kinase-like domain (1);	0.157911	0.56097	D	0.000028	T	0.29524	0.0736	N	0.25825	0.765	0.28540	N	0.912152	B;B	0.12630	0.006;0.005	B;B	0.17098	0.017;0.01	T	0.17198	-1.0377	10	0.08179	T	0.78	-24.7916	2.884	0.05656	0.1435:0.5566:0.1395:0.1605	.	272;231	Q96D53;Q96D53-2	ADCK4_HUMAN;.	H	272;231;231	ENSP00000315118:Q272H;ENSP00000412839:Q231H;ENSP00000243583:Q231H	ENSP00000243583:Q231H	Q	-	3	2	ADCK4	45900422	0.982000	0.34865	1.000000	0.80357	0.943000	0.58893	0.471000	0.22100	0.601000	0.29879	0.555000	0.69702	CAG	ADCK4	-	pfam_UbiB_dom,superfamily_Kinase-like_dom	ENSG00000123815		0.637	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADCK4	HGNC	protein_coding	OTTHUMT00000462731.1	-	0	53	0	C	NM_024876		41208582	-1	tier1	-	no_errors	ENST00000324464	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.965	G	G	41208582	C	G	41208582	3	3	160	1	0	0	0	0	1	0	0	0	290	912	32	5	842	5	ADCK4	19	41208582	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	25261	41208582	17920401	377	40874											
MEGF8	1954	genome.wustl.edu	37	chr19	42874502	42874502	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaagaagtactcactggaCccagaggaggtgaaagagag	16	4	13	8	0	1	4	1	1	0	3	1	7	1	6	2	3	1	1	2	3	4	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:42874502C>T	ENST00000251268.6	+	39	6996	c.6996C>T	c.(6994-6996)gaC>gaT	p.D2332D	MEGF8_ENST00000334370.4_Silent_p.D2265D|MEGF8_ENST00000378073.4_5'UTR	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2332					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)				ACTCActggacccagaggagg	0.602																																																	0													29	26	27					19																	42874502		2197	4289	6486	SO:0001819	synonymous_variant	0			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.6996C>T	19.37:g.42874502C>T			A8KAY0|O75097	Silent	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.D2332	ENST00000251268.6	37	c.6996		19																																																																																			MEGF8	-	smart_EG-like_dom,smart_EGF_laminin	ENSG00000105429		0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0	50	0	C	NM_001410		42874502	1			no_errors	ENST00000251268	ensembl	human	known	74_37	silent	12.82	34	5	SNP	1.000	T	T	42874502	C	T	42874502	2	4	160	1	0	0	0	0	0	0	0	1	9501	506	18	3		3	MEGF8	19	42874502	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1665920	42874502	16254481	378	40875											
RSPH6A	81492	genome.wustl.edu	37	chr19	46313896	46313896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgttcgccttcagtgcCgcctccactccgggtgaaca	5	10	9	17	3	1	1	1	1	0	0	5	1	4	1	6	1	2	1	6	1	1	2	rs553772648		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:46313896C>T	ENST00000221538.3	-	2	995	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	RSPH6A_ENST00000600188.1_Missense_Mutation_p.G21S|RSPH6A_ENST00000597055.1_Missense_Mutation_p.G285S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	285						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						CCTTCAGTGCCGCCTCCACTC	0.627													C|||	1	0.000199681	0	0.0014	5008	,	,		18027	0		0	False		,,,				2504	0																0													175	157	163					19																	46313896		2203	4300	6503	SO:0001583	missense	0			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.853G>A	19.37:g.46313896C>T	ENSP00000221538:p.Gly285Ser		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	pfam_Radial_spoke	p.G285S	ENST00000221538.3	37	c.853	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	C	5.995	0.367457	0.11352	.	.	ENSG00000104941	ENST00000221538	T	0.17370	2.28	3.25	0.85	0.18980	.	0.782162	0.10588	N	0.657117	T	0.12050	0.0293	L	0.52126	1.63	0.09310	N	1	B	0.28178	0.202	B	0.22152	0.038	T	0.38045	-0.9679	10	0.10636	T	0.68	-6.814	5.1443	0.14977	0.0:0.6827:0.0:0.3173	.	285	Q9H0K4	RSH6A_HUMAN	S	285	ENSP00000221538:G285S	ENSP00000221538:G285S	G	-	1	0	RSPH6A	51005736	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-0.045000	0.12003	0.292000	0.22492	0.650000	0.86243	GGC	RSPH6A	-	pfam_Radial_spoke	ENSG00000104941		0.627	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	-	0	59	0	C			46313896	-1	tier1	-	no_errors	ENST00000221538	ensembl	human	known	74_37	missense	18.42	31	7	SNP	0.001	T	T	46313896	C	T	46313896	3	4	160	1	0	0	0	0	1	0	0	0	13752	652	23	1	1320	1	RSPH6A	19	46313896	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	3439394	46313896	12815087	379	40876											
PPFIA3	8541	genome.wustl.edu	37	chr19	49636266	49636266	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacctccgcaggcgctggcGcagcgggaagatatggagga	9	5	16	11	4	0	1	0	0	0	1	1	4	1	4	2	5	2	3	2	5	3	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:49636266G>A	ENST00000334186.4	+	8	1237	c.888G>A	c.(886-888)gcG>gcA	p.A296A	PPFIA3_ENST00000602351.1_Silent_p.A296A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	296					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)		AGGCGCTGGCGCAGCGGGAAG	0.647																																																	0													26	23	24					19																	49636266		2203	4299	6502	SO:0001819	synonymous_variant	0			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.888G>A	19.37:g.49636266G>A			A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.A296	ENST00000334186.4	37	c.888	CCDS12758.1	19																																																																																			PPFIA3	-	NULL	ENSG00000177380		0.647	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	-	0	41	0	G	NM_003660		49636266	1	tier1	-	no_errors	ENST00000334186	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.042	A	A	49636266	G	A	49636266	2	1	160	1	0	0	0	0	0	0	0	1	12350	1074	38	1		1	PPFIA3	19	49636266	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	3322370	49636266	9492717	380	40877											
GPR32	2854	genome.wustl.edu	37	chr19	51274769	51274769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggctagctttgccttGggctgtgtcaacagcagcct	6	11	11	13	0	1	0	1	0	0	0	2	0	2	0	3	2	5	4	3	2	2	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:51274769G>T	ENST00000270590.4	+	1	1049	c.912G>T	c.(910-912)ttG>ttT	p.L304F		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	304					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)		GCTTTGCCTTGGGCTGTGTCA	0.542																																					Esophageal Squamous(113;152 1581 5732 15840 44398)												0													84	81	82					19																	51274769		2203	4300	6503	SO:0001583	missense	0			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.912G>T	19.37:g.51274769G>T	ENSP00000270590:p.Leu304Phe		Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.L304F	ENST00000270590.4	37	c.912	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296502	0.23650	.	.	ENSG00000142511	ENST00000270590	T	0.47528	0.84	2.56	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64193	0.2576	M	0.66439	2.03	0.32362	N	0.55709	D	0.89917	1.0	D	0.91635	0.999	T	0.70941	-0.4735	9	0.87932	D	0	.	11.228	0.48895	0.0:0.0:1.0:0.0	.	304	O75388	GPR32_HUMAN	F	304	ENSP00000270590:L304F	ENSP00000270590:L304F	L	+	3	2	GPR32	55966581	1.000000	0.71417	0.569000	0.28460	0.105000	0.19272	1.138000	0.31491	1.356000	0.45884	0.313000	0.20887	TTG	GPR32	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000142511		0.542	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	-	0	114	0	G			51274769	1	tier1	-	no_errors	ENST00000270590	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.986	T	T	51274769	G	T	51274769	3	4	160	1	0	0	0	0	1	0	0	0	6714	1339	47	3	914	3	GPR32	19	51274769	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1638503	51274769	7854214	381	40878											
ZNF813	126017	genome.wustl.edu	37	chr19	53994532	53994532	+	Missense_Mutation	SNP	A	A	G	1	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	tacatgccatcgtagacttcAtactggagagaaacctttca	13	11	7	10	1	2	2	2	0	0	2	3	4	2	3	2	1	4	1	2	1	4	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:53994532A>G	ENST00000396403.4	+	4	1174	c.1046A>G	c.(1045-1047)cAt>cGt	p.H349R	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	349					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)	1				GBM - Glioblastoma multiforme(134;0.00619)		CGTAGACTTCATACTGGAGAG	0.428																																																	0													151	154	153					19																	53994532		2203	4299	6502	SO:0001583	missense	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1046A>G	19.37:g.53994532A>G	ENSP00000379684:p.His349Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H349R	ENST00000396403.4	37	c.1046	CCDS46172.1	19	.	.	.	.	.	.	.	.	.	.	a	14.04	2.418193	0.42918	.	.	ENSG00000198346	ENST00000396403	T	0.67523	-0.27	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82332	0.5014	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80908	-0.1172	9	0.87932	D	0	.	7.1931	0.25837	1.0:0.0:0.0:0.0	.	349	Q6ZN06	ZN813_HUMAN	R	349	ENSP00000379684:H349R	ENSP00000379684:H349R	H	+	2	0	ZNF813	58686344	1.000000	0.71417	0.819000	0.32651	0.580000	0.36256	6.927000	0.75840	0.383000	0.24910	0.156000	0.16432	CAT	ZNF813	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198346		0.428	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	-	0	145	0	A	NM_001004301		53994532	1	tier1	-	no_errors	ENST00000396403	ensembl	human	known	74_37	missense	16.11	125	24	SNP	1.000	G	G	53994532	A	G	53994532	3	3	160	1	0	0	0	0	1	0	0	0	18223	217	8	4	1056	4	ZNF813	19	53994532	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	2719763	53994532	5134451	382	40879											
NLRP7	199713	genome.wustl.edu	37	chr19	55450857	55450857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccaggaacagacggaggtCggactcctgcaccccgagcc	9	4	13	15	3	0	1	0	0	0	1	3	5	2	4	5	4	3	1	5	4	1	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:55450857C>T	ENST00000590030.1	-	3	1370	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	NLRP7_ENST00000588756.1_Missense_Mutation_p.D444N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D444N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D444N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D472N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D444N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D444N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	444	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.D444N(2)		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)		AGACGGAGGTCGGACTCCTGC	0.642																																																	2	Substitution - Missense(2)	endometrium(2)											37	33	35					19																	55450857		2203	4300	6503	SO:0001583	missense	0			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.1330G>A	19.37:g.55450857C>T	ENSP00000465520:p.Asp444Asn		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D472N	ENST00000590030.1	37	c.1414	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537627	0.45176	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.75938	-0.9;-0.9;-0.98;-0.94	1.92	0.872	0.19113	.	0.778678	0.10493	N	0.668237	T	0.65678	0.2714	L	0.58354	1.805	0.09310	N	1	P;P;P;P	0.50617	0.895;0.895;0.895;0.937	B;B;B;B	0.41646	0.198;0.198;0.198;0.362	T	0.56829	-0.7914	10	0.48119	T	0.1	.	4.0991	0.10005	0.0:0.7873:0.0:0.2127	.	472;444;444;444	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	444;444;444;472;211	ENSP00000329568:D444N;ENSP00000409137:D444N;ENSP00000339491:D444N;ENSP00000414273:D472N	ENSP00000329568:D444N	D	-	1	0	NLRP7	60142669	0.000000	0.05858	0.001000	0.08648	0.539000	0.34962	0.491000	0.22419	0.369000	0.24510	0.462000	0.41574	GAC	NLRP7	-	NULL	ENSG00000167634		0.642	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1		0	55	0	C	NM_139176		55450857	-1			no_errors	ENST00000446217	ensembl	human	known	74_37	missense	11.67	53	7	SNP	0.000	T	T	55450857	C	T	55450857	3	4	160	1	0	0	0	0	1	0	0	0	10521	884	31	1	1815	1	NLRP7	19	55450857	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1456325	55450857	3678126	383	40880											
ZNF71	58491	genome.wustl.edu	37	chr19	57134062	57134062	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gagaagccctaccgatgcggCgagtgcgggaagaccttcag	10	5	15	11	4	1	2	1	0	0	2	1	6	1	3	3	2	4	0	3	2	3	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:57134062C>T	ENST00000328070.6	+	3	1641	c.1407C>T	c.(1405-1407)ggC>ggT	p.G469G		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	469					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)		ACCGATGCGGCGAGTGCGGGA	0.647																																																	0													56	53	54					19																	57134062		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1407C>T	19.37:g.57134062C>T			Q15919|Q9UC09|Q9UQD3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G469	ENST00000328070.6	37	c.1407	CCDS12947.1	19																																																																																			ZNF71	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197951		0.647	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	-	0	101	0	C	NM_021216		57134062	1	tier1	-	no_errors	ENST00000328070	ensembl	human	known	74_37	silent	26.80	71	26	SNP	0.001	T	T	57134062	C	T	57134062	2	4	160	1	0	0	0	0	0	0	0	1	18162	755	27	1		1	ZNF71	19	57134062	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1683205	57134062	1994921	384	40881											
ZNF264	9422	genome.wustl.edu	37	chr19	57722979	57722979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtgtgttcaaggattGgacaggagcaagtctctcca	10	11	13	7	0	2	0	1	0	1	0	4	3	3	3	1	4	1	2	1	4	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:57722979G>A	ENST00000263095.6	+	4	928	c.514G>A	c.(514-516)Gga>Aga	p.G172R	ZNF264_ENST00000536056.1_Missense_Mutation_p.G172R	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	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)			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)		TTCAAGGATTGGACAGGAGCA	0.463																																																	0													106	97	100					19																	57722979		2203	4300	6503	SO:0001583	missense	0			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.514G>A	19.37:g.57722979G>A	ENSP00000263095:p.Gly172Arg		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G172R	ENST00000263095.6	37	c.514	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	G	1.503	-0.551553	0.03996	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.21734	1.99;1.99	2.35	-3.65	0.04502	.	.	.	.	.	T	0.06050	0.0157	N	0.03050	-0.425	0.09310	N	1	B	0.21309	0.054	B	0.17098	0.017	T	0.40627	-0.9553	9	0.10377	T	0.69	.	5.0034	0.14275	0.4967:0.3033:0.1999:0.0	.	172	O43296	ZN264_HUMAN	R	172	ENSP00000263095:G172R;ENSP00000440376:G172R	ENSP00000263095:G172R	G	+	1	0	ZNF264	62414791	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.426000	0.07008	-0.689000	0.05149	-0.378000	0.06908	GGA	ZNF264	-	NULL	ENSG00000083844		0.463	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	HGNC	protein_coding	OTTHUMT00000465080.1	-	0	51	0	G			57722979	1	tier1	-	no_errors	ENST00000263095	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.000	A	A	57722979	G	A	57722979	3	1	160	1	0	0	0	0	1	0	0	0	17852	1349	47	3	528	3	ZNF264	19	57722979	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	588917	57722979	1406004	385	40882											
AURKC	6795	genome.wustl.edu	37	chr19	57744904	57744904	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagatattaagccagagaAcctgctgctggggttcaggg	11	8	14	8	0	1	2	1	0	0	2	1	4	1	2	2	3	4	3	2	3	3	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:57744904A>C	ENST00000302804.7	+	5	698	c.512A>C	c.(511-513)aAc>aCc	p.N171T	AURKC_ENST00000599062.1_Missense_Mutation_p.N168T|AURKC_ENST00000598785.1_Missense_Mutation_p.N137T|AURKC_ENST00000415300.2_Missense_Mutation_p.N152T|AURKC_ENST00000448930.1_Missense_Mutation_p.N137T	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		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;0.0122)		AAGCCAGAGAACCTGCTGCTG	0.522																																																	0													122	114	117					19																	57744904		2203	4300	6503	SO:0001583	missense	0				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"serine/threonine kinase 13 (aurora/IPL1-like)"	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.512A>C	19.37:g.57744904A>C	ENSP00000302898:p.Asn171Thr		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N171T	ENST00000302804.7	37	c.512	CCDS33128.1	19	.	.	.	.	.	.	.	.	.	.	A	19.59	3.856697	0.71834	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	D;D;D	0.91996	-2.95;-2.95;-2.95	3.95	3.95	0.45737	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	H	0.99487	4.59	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	0.97818	1.0255	10	0.87932	D	0	-26.6187	11.4506	0.50149	1.0:0.0:0.0:0.0	.	168;171;152	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	T	152;137;171	ENSP00000407162:N152T;ENSP00000406798:N137T;ENSP00000302898:N171T	ENSP00000302898:N171T	N	+	2	0	AURKC	62436716	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.719000	0.84751	2.024000	0.59613	0.459000	0.35465	AAC	AURKC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105146		0.522	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AURKC	HGNC	protein_coding	OTTHUMT00000465089.1	-	0	70	0	A	NM_003160		57744904	1	tier1	-	no_errors	ENST00000302804	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	C	C	57744904	A	C	57744904	3	2	160	1	0	0	0	0	1	0	0	0	1225	43	2	4	535	4	AURKC	19	57744904	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	21925	57744904	1384079	386	40883											
ZNF548	147694	genome.wustl.edu	37	chr19	57911126	57911126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcctttattagaaagtctCacctggttcatcaccagaaa	13	11	7	10	0	3	2	3	0	1	2	4	2	3	2	3	2	0	1	3	2	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:57911126C>T	ENST00000366197.5	+	3	1721	c.1471C>T	c.(1471-1473)Cac>Tac	p.H491Y	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.H503Y|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	491					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)		TAGAAAGTCTCACCTGGTTCA	0.433																																																	0													90	90	90					19																	57911126		2035	4229	6264	SO:0001583	missense	0			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.1471C>T	19.37:g.57911126C>T	ENSP00000379482:p.His491Tyr		Q96M05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H503Y	ENST00000366197.5	37	c.1507	CCDS46209.1	19	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382300	0.61845	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.07444	3.19;3.19	3.07	-0.606	0.11619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10208	0.0250	L	0.38175	1.15	0.09310	N	1	D;D	0.59767	0.986;0.976	P;P	0.53912	0.737;0.55	T	0.34675	-0.9819	9	0.19590	T	0.45	.	7.5283	0.27668	0.4499:0.4029:0.1472:0.0	.	503;491	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	Y	503;491	ENSP00000337555:H503Y;ENSP00000379482:H491Y	ENSP00000337555:H503Y	H	+	1	0	ZNF548	62602938	0.000000	0.05858	0.000000	0.03702	0.997000	0.91878	-4.141000	0.00287	-0.003000	0.14444	0.655000	0.94253	CAC	ZNF548	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188785		0.433	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	-	0	64	0	C	NM_152909		57911126	1	tier1	-	no_errors	ENST00000336128	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	T	T	57911126	C	T	57911126	3	4	160	1	0	0	0	0	1	0	0	0	18028	826	29	3	1521	3	ZNF548	19	57911126	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	166222	57911126	1217857	387	40884											
ZNF671	79891	genome.wustl.edu	37	chr19	58238833	58238833	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggcaggcgtctcgatcGgggacgcaggcacttccgtc	6	6	16	13	6	1	0	0	0	1	0	5	3	2	1	1	5	1	3	1	5	0	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:58238833G>A	ENST00000317398.6	-	1	159	c.64C>T	c.(64-66)Cga>Tga	p.R22*	AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000596939.1_Nonsense_Mutation_p.R22*|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	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)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CGTCTCGATCGGGGACGCAGG	0.701																																																	0													35	36	36					19																	58238833		2203	4300	6503	SO:0001587	stop_gained	0				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.64C>T	19.37:g.58238833G>A	ENSP00000321848:p.Arg22*		A6NF07|Q9H5E9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R22*	ENST00000317398.6	37	c.64	CCDS12961.1	19	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829349	0.71258	.	.	ENSG00000083814	ENST00000317398	.	.	.	1.45	-0.899	0.10547	.	.	.	.	.	.	.	.	.	.	.	0.20563	N	0.999885	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	2.7739	0.05342	0.2089:0.3047:0.4865:0.0	.	.	.	.	X	22	.	ENSP00000321848:R22X	R	-	1	2	ZNF671	62930645	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.807000	0.04520	-0.198000	0.10333	-0.463000	0.05309	CGA	ZNF671	-	NULL	ENSG00000083814		0.701	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	HGNC	protein_coding	OTTHUMT00000466817.1	-	0	115	0	G	NM_024833		58238833	-1	tier1	-	no_errors	ENST00000317398	ensembl	human	known	74_37	nonsense	7.00	93	7	SNP	0.002	A	A	58238833	G	A	58238833	4	1	160	1	0	0	0	0	0	1	0	0	18126	1124	39	1	1556	1	ZNF671	19	58238833	Nonsense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	327707	58238833	890150	388	40885											
ZSCAN1	284312	genome.wustl.edu	37	chr19	58564838	58564838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagccgagtatctgggacGagcctgaggaccttctcgca	9	8	13	11	3	2	2	0	2	2	0	3	6	2	4	3	2	2	2	3	2	2	2	rs374458811		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:58564838G>A	ENST00000282326.1	+	6	893	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	216					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)		TATCTGGGACGAGCCTGAGGA	0.637																																																	0								G	LYS/GLU	0,4406		0,0,2203	51	54	53		646	-1.5	0	19		53	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZSCAN1	NM_182572.3	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	216/409	58564838	2,13004	2203	4300	6503	SO:0001583	missense	0			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.646G>A	19.37:g.58564838G>A	ENSP00000282326:p.Glu216Lys		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E216K	ENST00000282326.1	37	c.646	CCDS12969.1	19	.	.	.	.	.	.	.	.	.	.	G	4.757	0.140812	0.09083	0.0	2.33E-4	ENSG00000152467	ENST00000282326	T	0.04234	3.67	1.04	-1.45	0.08828	.	.	.	.	.	T	0.02455	0.0075	N	0.19112	0.55	0.09310	N	1	B	0.33755	0.424	B	0.28139	0.086	T	0.48198	-0.9056	9	0.15066	T	0.55	.	5.6584	0.17654	0.3885:0.0:0.6115:0.0	.	216	Q8NBB4	ZSCA1_HUMAN	K	216	ENSP00000282326:E216K	ENSP00000282326:E216K	E	+	1	0	ZSCAN1	63256650	0.008000	0.16893	0.001000	0.08648	0.060000	0.15804	0.247000	0.18179	-0.545000	0.06224	-0.339000	0.08088	GAG	ZSCAN1	-	NULL	ENSG00000152467		0.637	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	-	0	70	0	G	NM_182572		58564838	1	tier1	-	no_errors	ENST00000282326	ensembl	human	known	74_37	missense	14.10	67	11	SNP	0.022	A	A	58564838	G	A	58564838	3	1	160	1	0	0	0	0	1	0	0	0	18274	1059	37	1	660	1	ZSCAN1	19	58564838	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	326005	58564838	564145	389	40886											
CD93	22918	genome.wustl.edu	37	chr20	23066727	23066727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgagtgggccgtgtagcaggCggtccccacgcagaccaccg	7	4	15	15	5	0	1	0	0	0	1	1	2	1	1	5	3	1	3	5	3	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:23066727C>T	ENST00000246006.4	-	1	250	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	35	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.A35T(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGTAGCAGGCGGTCCCCACG	0.697																																																	1	Substitution - Missense(1)	large_intestine(1)											23	21	22					20																	23066727		2198	4292	6490	SO:0001583	missense	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.103G>A	20.37:g.23066727C>T	ENSP00000246006:p.Ala35Thr		O00274	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin	p.A35T	ENST00000246006.4	37	c.103	CCDS13149.1	20	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451493	0.84209	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.81415	-1.49	5.36	5.36	0.76844	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.53938	D	0.000060	D	0.87826	0.6275	L	0.53617	1.68	0.54753	D	0.999981	D	0.89917	1.0	D	0.77557	0.99	D	0.88258	0.2921	10	0.72032	D	0.01	-42.5514	18.2557	0.90019	0.0:1.0:0.0:0.0	.	35	Q9NPY3	C1QR1_HUMAN	T	35	ENSP00000246006:A35T	ENSP00000246006:A35T	A	-	1	0	CD93	23014727	1.000000	0.71417	0.965000	0.40720	0.335000	0.28730	4.982000	0.63825	2.774000	0.95407	0.655000	0.94253	GCC	CD93	-	pirsf_CD93/CD141,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000125810		0.697	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	-	0	37	0	C	NM_012072		23066727	-1	tier1	-	no_errors	ENST00000246006	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	23066727	C	T	23066727	3	4	160	1	0	0	0	0	1	0	0	0	3054	768	27	1	1863	1	CD93	20	23066727	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09		23066727	39958793	390	40887											
CST1	1469	genome.wustl.edu	37	chr20	23729656	23729656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcatcaggaacgtaccttCtgcagttctggctgttcatg	7	13	10	11	1	4	0	2	0	2	0	4	1	4	1	1	2	4	6	1	2	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:23729656C>G	ENST00000304749.2	-	2	409	c.339G>C	c.(337-339)caG>caC	p.Q113H	CST1_ENST00000398402.1_Missense_Mutation_p.Q113H	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	113					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)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					AACGTACCTTCTGCAGTTCTG	0.562																																																	0													225	167	187					20																	23729656		2203	4300	6503	SO:0001583	missense	0			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.339G>C	20.37:g.23729656C>G	ENSP00000305731:p.Gln113His		Q96LE6|Q9UCQ6	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.Q113H	ENST00000304749.2	37	c.339	CCDS13160.1	20	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654769	0.29425	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.27256	1.68;1.68	1.58	1.58	0.23477	Proteinase inhibitor I25, cystatin (2);	1.010930	0.07961	U	0.982392	T	0.41789	0.1174	L	0.53671	1.685	0.09310	N	1	D	0.65815	0.995	D	0.72075	0.976	T	0.21930	-1.0231	10	0.42905	T	0.14	.	6.6677	0.23050	0.0:1.0:0.0:0.0	.	113	P01037	CYTN_HUMAN	H	113	ENSP00000305731:Q113H;ENSP00000381439:Q113H	ENSP00000305731:Q113H	Q	-	3	2	CST1	23677656	0.000000	0.05858	0.020000	0.16555	0.199000	0.23934	-0.443000	0.06862	1.198000	0.43158	0.194000	0.17425	CAG	CST1	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000170373		0.562	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST1	HGNC	protein_coding	OTTHUMT00000078351.2	-	0	141	0	C	NM_001898		23729656	-1	tier1	-	no_errors	ENST00000304749	ensembl	human	known	74_37	missense	12.38	177	25	SNP	0.026	G	G	23729656	C	G	23729656	3	3	160	1	0	0	0	0	1	0	0	0	3979	912	32	5	94	5	CST1	20	23729656	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	662929	23729656	39295864	391	40888											
EPB41L1	2036	genome.wustl.edu	37	chr20	34778659	34778659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccctcattgaccggcctGcacccttctttgagcgttct	4	12	9	16	3	3	2	1	2	2	0	3	2	3	2	4	1	2	2	4	1	0	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:34778659G>A	ENST00000338074.2	+	11	1401	c.1240G>A	c.(1240-1242)Gca>Aca	p.A414T	EPB41L1_ENST00000373941.1_Missense_Mutation_p.A414T|EPB41L1_ENST00000373950.2_Missense_Mutation_p.A317T|EPB41L1_ENST00000441639.1_Missense_Mutation_p.A352T|EPB41L1_ENST00000373946.3_Missense_Mutation_p.A383T|EPB41L1_ENST00000202028.5_Missense_Mutation_p.A352T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	414					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)					TGACCGGCCTGCACCCTTCTT	0.622																																																	0													56	50	52					20																	34778659		2203	4300	6503	SO:0001583	missense	0			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.1240G>A	20.37:g.34778659G>A	ENSP00000337168:p.Ala414Thr		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.A414T	ENST00000338074.2	37	c.1240	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.477284	0.96291	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.18	5.18	0.71444	FERM adjacent (FA) (1);	.	.	.	.	D	0.92270	0.7548	L	0.58354	1.805	0.80722	D	1	P;D;P;D;D;P	0.89917	0.88;1.0;0.725;1.0;0.995;0.88	P;D;B;D;D;P	0.97110	0.771;1.0;0.316;0.998;0.945;0.609	D	0.92922	0.6356	9	0.87932	D	0	.	17.6293	0.88102	0.0:0.0:1.0:0.0	.	414;414;383;317;317;352	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	T	352;317;414;317;352;383;414;414	ENSP00000202028:A352T;ENSP00000363061:A317T;ENSP00000399214:A352T;ENSP00000363057:A383T;ENSP00000337168:A414T;ENSP00000363052:A414T	ENSP00000202028:A352T	A	+	1	0	EPB41L1	34242073	1.000000	0.71417	0.973000	0.42090	0.971000	0.66376	9.813000	0.99286	2.556000	0.86216	0.561000	0.74099	GCA	EPB41L1	-	pfam_FERM-adjacent,pirsf_Band_41_protein	ENSG00000088367		0.622	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	-	0	45	0	G	NM_012156		34778659	1	tier1	-	no_errors	ENST00000338074	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.998	A	A	34778659	G	A	34778659	3	1	160	1	0	0	0	0	1	0	0	0	5168	1319	46	3	1278	3	EPB41L1	20	34778659	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	11049003	34778659	28246861	392	40889											
LPIN3	64900	genome.wustl.edu	37	chr20	39986652	39986652	+	Missense_Mutation	SNP	A	A	C	1	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	ccatccttctgtctcccagcAgcctcttctctgccctccac	4	12	4	21	0	4	0	0	0	4	0	8	0	6	0	6	0	3	1	6	0	0	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:39986652A>C	ENST00000373257.3	+	17	2261	c.2170A>C	c.(2170-2172)Agc>Cgc	p.S724R	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	724	C-LIP.				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)				GTCTCCCAGCAGCCTCTTCTC	0.662																																																	0													53	53	53					20																	39986652		2203	4300	6503	SO:0001583	missense	0			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.2170A>C	20.37:g.39986652A>C	ENSP00000362354:p.Ser724Arg		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.S724R	ENST00000373257.3	37	c.2170	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	A	29.6	5.018961	0.93404	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	T	0.75477	-0.94	5.55	5.55	0.83447	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	L	0.39020	1.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79252	-0.1880	9	.	.	.	-23.8609	15.6963	0.77502	1.0:0.0:0.0:0.0	.	725;724	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	R	724;357	ENSP00000362354:S724R	.	S	+	1	0	LPIN3	39420066	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.962000	0.93254	2.105000	0.64084	0.528000	0.53228	AGC	LPIN3	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000132793		0.662	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0	79	0	A	NM_022896		39986652	1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	11.01	97	12	SNP	1.000	C	C	39986652	A	C	39986652	3	2	160	1	0	0	0	0	1	0	0	0	8955	188	7	4	2232	4	LPIN3	20	39986652	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	5207993	39986652	23038868	393	40890											
PHACTR3	116154	genome.wustl.edu	37	chr20	58330337	58330337	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctgacttcagaagatgcccaGcccggaagccccttggccac	9	6	10	16	1	1	3	1	1	0	2	1	4	1	4	5	2	3	0	5	2	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:58330337G>T	ENST00000371015.1	+	4	926	c.459G>T	c.(457-459)caG>caT	p.Q153H	PHACTR3_ENST00000359926.3_Missense_Mutation_p.Q150H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.Q112H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.Q112H|PHACTR3_ENST00000395636.2_Missense_Mutation_p.Q112H|PHACTR3_ENST00000355648.4_Missense_Mutation_p.Q112H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.Q112H	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	153						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGATGCCCAGCCCGGAAGCC	0.597																																																	0													49	45	46					20																	58330337		2203	4300	6503	SO:0001583	missense	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.459G>T	20.37:g.58330337G>T	ENSP00000360054:p.Gln153His		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.Q153H	ENST00000371015.1	37	c.459	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275685	0.23307	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.31769	1.88;1.89;1.48;1.9;1.9;1.9;1.48	3.6	1.59	0.23543	.	1.040940	0.07498	N	0.906806	T	0.27205	0.0667	L	0.46157	1.445	0.09310	N	0.999999	P;B;P	0.38642	0.589;0.412;0.641	B;B;B	0.37833	0.24;0.259;0.259	T	0.21965	-1.0230	10	0.45353	T	0.12	-6.3331	6.3644	0.21447	0.2498:0.0:0.7502:0.0	.	112;153;150	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	H	150;153;112;112;112;112;112	ENSP00000353002:Q150H;ENSP00000360054:Q153H;ENSP00000379001:Q112H;ENSP00000442483:Q112H;ENSP00000347866:Q112H;ENSP00000378998:Q112H;ENSP00000354555:Q112H	ENSP00000347866:Q112H	Q	+	3	2	PHACTR3	57763732	0.992000	0.36948	0.004000	0.12327	0.051000	0.14879	1.281000	0.33214	0.295000	0.22570	0.591000	0.81541	CAG	PHACTR3	-	NULL	ENSG00000087495		0.597	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	-	0	23	0	G	NM_080672		58330337	1	tier1	-	no_errors	ENST00000371015	ensembl	human	known	74_37	missense	28.57	24	10	SNP	0.011	T	T	58330337	G	T	58330337	3	4	160	1	0	0	0	0	1	0	0	0	11850	962	34	3	473	3	PHACTR3	20	58330337	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	18343685	58330337	4695183	394	40891											
SLCO4A1	28231	genome.wustl.edu	37	chr20	61292523	61292523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaaaccatcagagacctgCctctgtaaggaccggagtcg	12	6	12	11	2	2	1	1	0	1	1	3	5	2	4	4	3	2	1	4	3	3	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:61292523C>T	ENST00000370507.1	+	4	1213	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S	RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.P373S|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	373					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)	CAGAGACCTGCCTCTGTAAGG	0.597																																					Pancreas(168;741 2006 10379 40139 45334)												0													72	64	66					20																	61292523		2203	4300	6503	SO:0001583	missense	0			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.1117C>T	20.37:g.61292523C>T	ENSP00000359538:p.Pro373Ser		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.P373S	ENST00000370507.1	37	c.1117	CCDS13501.1	20	.	.	.	.	.	.	.	.	.	.	c	17.54	3.415469	0.62511	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.46819	0.86;0.86	4.25	4.25	0.50352	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.89353	3.025	0.80722	D	1	P	0.52061	0.95	P	0.62885	0.908	T	0.73062	-0.4101	10	0.25751	T	0.34	.	16.6873	0.85312	0.0:1.0:0.0:0.0	.	373	Q96BD0	SO4A1_HUMAN	S	373	ENSP00000217159:P373S;ENSP00000359538:P373S	ENSP00000217159:P373S	P	+	1	0	SLCO4A1	60762968	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	6.753000	0.74904	1.940000	0.56252	0.450000	0.29827	CCT	SLCO4A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000101187		0.597	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2		0	46	0	C	NM_016354		61292523	1			no_errors	ENST00000217159	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T	T	61292523	C	T	61292523	3	4	160	1	0	0	0	0	1	0	0	0	14774	739	26	3	1131	3	SLCO4A1	20	61292523	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	2962186	61292523	1732997	395	40892											
OGFR	11054	genome.wustl.edu	37	chr20	61444884	61444884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccagccgagagcccatcGgagaccccaggccccagccc	9	1	12	19	2	0	2	0	0	0	2	1	5	0	2	8	2	4	0	8	2	0	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:61444884G>A	ENST00000290291.6	+	7	1942	c.1917G>A	c.(1915-1917)tcG>tcA	p.S639S	OGFR_ENST00000370461.1_Silent_p.S587S	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	639	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				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)					AGAGCCCATCGGAGACCCCAG	0.711																																																	0													16	20	19					20																	61444884		2170	4267	6437	SO:0001819	synonymous_variant	0			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.1917G>A	20.37:g.61444884G>A			O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	pfam_OGF_rcpt,pfam_OGF_rcpt_rpt	p.S639	ENST00000290291.6	37	c.1917	CCDS13504.1	20																																																																																			OGFR	-	pfam_OGF_rcpt_rpt	ENSG00000060491		0.711	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGFR	HGNC	protein_coding	OTTHUMT00000080067.1	-	0	169	0	G			61444884	1	tier1	-	no_errors	ENST00000290291	ensembl	human	known	74_37	silent	19.26	109	26	SNP	0.008	A	A	61444884	G	A	61444884	2	1	160	1	0	0	0	0	0	0	0	1	10882	1103	39	1		1	OGFR	20	61444884	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	152361	61444884	1580636	396	40893											
OPRL1	4987	genome.wustl.edu	37	chr20	62730060	62730060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcatctgccctgcgcCgggacgtgcaggtgtctgac	4	9	15	13	3	2	1	0	1	2	0	2	2	2	2	2	2	4	3	2	2	0	0	rs150300242		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:62730060C>T	ENST00000349451.3	+	6	1433	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	OPRL1_ENST00000336866.2_Missense_Mutation_p.R341W|OPRL1_ENST00000355631.4_Missense_Mutation_p.R341W	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	341					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCCCTGCGCCGGGACGTGCA	0.632													C|||	1	0.000199681	0	0	5008	,	,		21310	0.001		0	False		,,,				2504	0																0									TRP/ARG,TRP/ARG,TRP/ARG	8,4394	14.3+/-33.2	0,8,2193	78	70	72		1021,1021,1021	5.1	1	20	dbSNP_134	72	0,8596		0,0,4298	yes	missense,missense,missense	OPRL1	NM_000913.4,NM_001200019.1,NM_182647.2	101,101,101	0,8,6491	TT,TC,CC		0.0,0.1817,0.0615	probably-damaging,probably-damaging,probably-damaging	341/371,341/371,341/371	62730060	8,12990	2201	4298	6499	SO:0001583	missense	0				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1021C>T	20.37:g.62730060C>T	ENSP00000336764:p.Arg341Trp		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.R341W	ENST00000349451.3	37	c.1021	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391061	0.25118	0.001817	0.0	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.39056	1.1;1.1;1.1	5.12	5.12	0.69794	.	0.521764	0.19652	N	0.109181	T	0.47229	0.1434	L	0.34521	1.04	0.29802	N	0.832357	D;D	0.67145	0.996;0.993	P;P	0.56612	0.802;0.638	T	0.48305	-0.9047	10	0.62326	D	0.03	.	13.4658	0.61254	0.1969:0.8031:0.0:0.0	.	336;341	P41146-2;P41146	.;OPRX_HUMAN	W	341	ENSP00000336843:R341W;ENSP00000347848:R341W;ENSP00000336764:R341W	ENSP00000336843:R341W	R	+	1	2	OPRL1	62200504	0.006000	0.16342	1.000000	0.80357	0.127000	0.20565	0.396000	0.20867	2.381000	0.81170	0.550000	0.68814	CGG	OPRL1	-	prints_X_opioid_rcpt	ENSG00000125510		0.632	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	HGNC	protein_coding	OTTHUMT00000080295.1	-	0	39	0	C	NM_182647		62730060	1	tier1	rs150300242	no_errors	ENST00000336866	ensembl	human	known	74_37	missense	8.24	77	7	SNP	0.996	T	T	62730060	C	T	62730060	3	4	160	1	0	0	0	0	1	0	0	0	10925	643	23	1	1031	1	OPRL1	20	62730060	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1285176	62730060	295460	397	40894											
TPTE	7179	genome.wustl.edu	37	chr21	10943021	10943021	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaagtaaatgtgtccatCtaagaataaatttaaacgat	17	12	7	5	2	1	1	0	0	1	1	3	3	2	1	1	0	1	1	1	0	9	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:10943021C>A	ENST00000361285.4	-	12	896		c.e12-1		TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000298232.7_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGTGTCCATCTAAGAATAAA	0.318																																																	0													56	52	54					21																	10943021		2203	4298	6501	SO:0001630	splice_region_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.567-1G>T	21.37:g.10943021C>A			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	-	e9-1	ENST00000361285.4	37	c.567-1	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	9.722	1.159831	0.21454	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.07	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2257	0.43225	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPTE	9964892	0.997000	0.39634	0.062000	0.19696	0.024000	0.10985	4.705000	0.61838	1.470000	0.48102	0.194000	0.17425	.	TPTE	-	-	ENSG00000166157		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	-	0	122	0	C		Intron	10943021	-1	tier1	-	no_errors	ENST00000361285	ensembl	human	known	74_37	splice_site	8.63	127	12	SNP	0.888	A	A	10943021	C	A	10943021	5	1	160	1	0	0	0	0	0	0	1	0	16478	927	32	3	1141	3	TPTE	21	10943021	Splice_Site	SNP	C	TCGA-V5-AASX-01A-11D-A387-09		10943021	37186874	398	40895											
GRIK1	2897	genome.wustl.edu	37	chr21	31062161	31062161	+	Missense_Mutation	SNP	T	T	A	0	1	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	aaaggttgatgtaaaacaaaTctttgttgtccaccgagggg	13	11	11	6	1	1	1	0	1	1	0	2	2	2	1	2	3	1	3	2	3	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:31062161T>A	ENST00000399907.1	-	3	842	c.431A>T	c.(430-432)gAt>gTt	p.D144V	GRIK1_ENST00000327783.4_Missense_Mutation_p.D144V|GRIK1_ENST00000535441.1_Missense_Mutation_p.D144V|GRIK1_ENST00000399909.1_Missense_Mutation_p.D144V|GRIK1_ENST00000389125.3_Missense_Mutation_p.D144V|GRIK1_ENST00000399913.1_Missense_Mutation_p.D144V|GRIK1_ENST00000389124.2_Missense_Mutation_p.D144V|GRIK1_ENST00000399914.1_Missense_Mutation_p.D144V|GRIK1_ENST00000309434.7_Missense_Mutation_p.D144V|GRIK1_ENST00000472429.1_5'UTR	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	144					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTAAAACAAATCTTTGTTGTC	0.478																																																	0													204	191	195					21																	31062161		2203	4300	6503	SO:0001583	missense	0				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.431A>T	21.37:g.31062161T>A	ENSP00000382791:p.Asp144Val		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D144V	ENST00000399907.1	37	c.431	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505352	0.85282	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.17	5.17	0.71159	Extracellular ligand-binding receptor (1);	0.410122	0.28736	N	0.014307	D	0.90000	0.6878	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D	0.69078	0.996;0.997;0.997;0.997;0.996	D;D;D;D;D	0.76071	0.987;0.972;0.972;0.972;0.919	D	0.89253	0.3592	10	0.36615	T	0.2	.	14.8479	0.70272	0.0:0.0:0.0:1.0	.	144;144;144;144;144	E7EPY9;E9PD61;B7Z3V7;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	V	144;144;144;144;144;88;144;144;144;144	ENSP00000327687:D144V;ENSP00000373777:D144V;ENSP00000382797:D144V;ENSP00000382798:D144V;ENSP00000446326:D144V;ENSP00000373776:D144V;ENSP00000382791:D144V;ENSP00000382793:D144V;ENSP00000311646:D144V	ENSP00000311646:D144V	D	-	2	0	GRIK1	29984032	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.441000	0.80485	2.158000	0.67659	0.533000	0.62120	GAT	GRIK1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000171189		0.478	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	-	0	60	0	T			31062161	-1	tier1	-	no_errors	ENST00000535441	ensembl	human	known	74_37	missense	16.36	46	9	SNP	1.000	A	A	31062161	T	A	31062161	3	1	160	1	0	0	0	0	1	0	0	0	6800	1435	50	5	2545	5	GRIK1	21	31062161	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	20119140	31062161	17067734	399	40896											
KRTAP27-1	643812	genome.wustl.edu	37	chr21	31709636	31709636	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgctgagtgctttctgaTtggcaaggctgagaaacaca	11	11	11	8	0	2	3	0	3	2	1	2	4	2	3	0	2	3	4	0	2	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:31709636T>G	ENST00000382835.2	-	1	376	c.351A>C	c.(349-351)caA>caC	p.Q117H		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	117						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGCTTTCTGATTGGCAAGGCT	0.493																																																	0													124	128	127					21																	31709636		2203	4300	6503	SO:0001583	missense	0			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.351A>C	21.37:g.31709636T>G	ENSP00000372286:p.Gln117His			Missense_Mutation	SNP	pfam_KRTAP_PMG	p.Q117H	ENST00000382835.2	37	c.351	CCDS33532.1	21	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597844	0.46318	.	.	ENSG00000206107	ENST00000382835	T	0.03635	3.86	4.44	0.601	0.17529	.	0.549745	0.17378	N	0.176411	T	0.12220	0.0297	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.04708	-1.0932	10	0.66056	D	0.02	-1.6441	6.4771	0.22043	0.0:0.5718:0.0:0.4282	.	117	Q3LI81	KR271_HUMAN	H	117	ENSP00000372286:Q117H	ENSP00000372286:Q117H	Q	-	3	2	KRTAP27-1	30631507	0.163000	0.22920	0.006000	0.13384	0.074000	0.17049	-0.006000	0.12833	0.097000	0.17492	-0.462000	0.05337	CAA	KRTAP27-1	-	pfam_KRTAP_PMG	ENSG00000206107		0.493	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP27-1	HGNC	protein_coding	OTTHUMT00000132470.3	-	0	75	0	T	NM_001077711		31709636	-1	tier1	-	no_errors	ENST00000382835	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.007	G	G	31709636	T	G	31709636	3	3	160	1	0	0	0	0	1	0	0	0	8572	1490	52	4	276	4	KRTAP27-1	21	31709636	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	647475	31709636	16420259	400	40897											
KRTAP27-1	643812	genome.wustl.edu	37	chr21	31709675	31709675	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagccagccctgctgaagaActttctgattggcacgctgt	9	10	10	12	1	1	3	0	2	1	1	1	3	1	3	2	1	4	3	2	1	3	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:31709675A>T	ENST00000382835.2	-	1	337	c.312T>A	c.(310-312)agT>agA	p.S104R		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	104						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CTGCTGAAGAACTTTCTGATT	0.522																																																	0													124	126	125					21																	31709675		2203	4300	6503	SO:0001583	missense	0			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.312T>A	21.37:g.31709675A>T	ENSP00000372286:p.Ser104Arg			Missense_Mutation	SNP	pfam_KRTAP_PMG	p.S104R	ENST00000382835.2	37	c.312	CCDS33532.1	21	.	.	.	.	.	.	.	.	.	.	A	8.577	0.881337	0.17467	.	.	ENSG00000206107	ENST00000382835	T	0.03635	3.86	4.44	-4.2	0.03823	.	1.802540	0.03193	N	0.173670	T	0.02807	0.0084	N	0.21282	0.65	0.09310	N	1	B	0.12630	0.006	B	0.18263	0.021	T	0.44314	-0.9336	10	0.36615	T	0.2	0.6509	3.7599	0.08601	0.3377:0.0:0.3636:0.2987	.	104	Q3LI81	KR271_HUMAN	R	104	ENSP00000372286:S104R	ENSP00000372286:S104R	S	-	3	2	KRTAP27-1	30631546	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.030000	0.12308	-0.755000	0.04709	-0.326000	0.08463	AGT	KRTAP27-1	-	pfam_KRTAP_PMG	ENSG00000206107		0.522	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP27-1	HGNC	protein_coding	OTTHUMT00000132470.3	-	0	63	0	A	NM_001077711		31709675	-1	tier1	-	no_errors	ENST00000382835	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.000	T	T	31709675	A	T	31709675	3	4	160	1	0	0	0	0	1	0	0	0	8572	40	2	5	315	5	KRTAP27-1	21	31709675	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	39	31709675	16420220	401	40898											
C21orf29	54084	genome.wustl.edu	37	chr21	45929171	45929171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatgacataggaatcattCtggacttgcatctccacatc	11	13	7	10	0	3	2	1	2	2	0	5	4	3	4	1	2	1	1	1	2	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:45929171C>G	ENST00000323084.4	-	10	1730	c.1665G>C	c.(1663-1665)caG>caC	p.Q555H	TSPEAR-AS1_ENST00000430181.1_RNA|TSPEAR-AS1_ENST00000451035.1_RNA|TSPEAR_ENST00000397916.1_Missense_Mutation_p.Q487H	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	555					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						AGGAATCATTCTGGACTTGCA	0.542																																																	0													217	135	163					21																	45929171		2203	4300	6503	SO:0001583	missense	0			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.1665G>C	21.37:g.45929171C>G	ENSP00000321987:p.Gln555His			Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.Q555H	ENST00000323084.4	37	c.1665	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	C	4.588	0.109251	0.08780	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.15139	2.45;2.45	3.98	-6.14	0.02111	.	0.270496	0.34725	N	0.003731	T	0.07728	0.0194	N	0.25647	0.755	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.09079	-1.0691	10	0.41790	T	0.15	-16.384	5.2241	0.15385	0.0854:0.1128:0.2217:0.5801	.	555	Q8WU66	TSEAR_HUMAN	H	555;408;487;556	ENSP00000321987:Q555H;ENSP00000381012:Q487H	ENSP00000321987:Q555H	Q	-	3	2	TSPEAR	44753599	0.000000	0.05858	0.002000	0.10522	0.142000	0.21351	-2.110000	0.01334	-1.315000	0.02297	0.558000	0.71614	CAG	TSPEAR	-	pfscan_EAR	ENSG00000175894		0.542	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	-	0	40	0	C	NM_144991		45929171	-1	tier1	-	no_errors	ENST00000323084	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.019	G	G	45929171	C	G	45929171	3	3	160	1	0	0	0	0	1	0	0	0	2131	912	32	5	356	5	C21orf29	21	45929171	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	14219496	45929171	2200724	402	40899											
COL6A2	1292	genome.wustl.edu	37	chr21	47536710	47536710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggcctggctggcaagaaCgggaccgatggacagaaggt	10	5	16	10	2	0	2	0	0	0	2	0	5	0	4	3	6	1	2	3	6	3	0			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:47536710C>T	ENST00000300527.4	+	10	1085	c.981C>T	c.(979-981)aaC>aaT	p.N327N	COL6A2_ENST00000310645.5_Silent_p.N327N|COL6A2_ENST00000397763.1_Silent_p.N327N|COL6A2_ENST00000409416.1_Silent_p.N327N|COL6A2_ENST00000357838.4_Silent_p.N327N	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	327	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)		CTGGCAAGAACGGGACCGATG	0.637																																																	0													40	44	42					21																	47536710		2203	4300	6503	SO:0001819	synonymous_variant	0			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.981C>T	21.37:g.47536710C>T			Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.N327	ENST00000300527.4	37	c.981	CCDS13728.1	21																																																																																			COL6A2	-	pfam_Collagen	ENSG00000142173		0.637	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0	84	0	C			47536710	1	tier1	rs147326531	no_errors	ENST00000300527	ensembl	human	known	74_37	silent	8.54	75	7	SNP	0.126	T	T	47536710	C	T	47536710	2	4	160	1	0	0	0	0	0	0	0	1	3707	535	19	1		1	COL6A2	21	47536710	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	1607539	47536710	593185	403	40900											
ADRBK2	157	genome.wustl.edu	37	chr22	26110499	26110499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagataaaatcgaggccaGgaagagagctaaaaataagc	20	4	10	7	1	0	2	0	0	0	2	1	5	0	3	1	2	2	1	1	2	7	3			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:26110499G>T	ENST00000324198.6	+	18	1808	c.1616G>T	c.(1615-1617)aGg>aTg	p.R539M	RNA5SP494_ENST00000410653.1_RNA	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	539					receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ATCGAGGCCAGGAAGAGAGCT	0.383																																																	0													62	59	60					22																	26110499		2203	4300	6503	SO:0001583	missense	0			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1616G>T	22.37:g.26110499G>T	ENSP00000317578:p.Arg539Met		Q9UGW9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.R539M	ENST00000324198.6	37	c.1616	CCDS13832.1	22	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905927	0.92107	.	.	ENSG00000100077	ENST00000324198	T	0.59772	0.24	5.44	5.44	0.79542	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	L	0.36672	1.1	0.80722	D	1	P	0.46512	0.879	P	0.48677	0.586	T	0.63404	-0.6645	10	0.87932	D	0	-33.9071	18.6268	0.91342	0.0:0.0:1.0:0.0	.	539	P35626	ARBK2_HUMAN	M	539	ENSP00000317578:R539M	ENSP00000317578:R539M	R	+	2	0	ADRBK2	24440499	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.968000	0.93407	2.715000	0.92844	0.655000	0.94253	AGG	ADRBK2	-	superfamily_Kinase-like_dom	ENSG00000100077		0.383	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK2	HGNC	protein_coding	OTTHUMT00000317296.4		0	30	0	G	NM_005160		26110499	1			no_errors	ENST00000324198	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	26110499	G	T	26110499	3	4	160	1	0	0	0	0	1	0	0	0	344	1000	35	3	1686	3	ADRBK2	22	26110499	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09		26110499	25194067	404	40901											
CRYBB1	1414	genome.wustl.edu	37	chr22	27012261	27012261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccactgtggccgaggccGaggcctttgcagcctgagac	6	6	14	15	3	0	1	0	1	0	1	0	4	0	1	6	3	2	1	6	3	0	1	rs374176492		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:27012261G>A	ENST00000215939.2	-	2	153	c.23C>T	c.(22-24)tCg>tTg	p.S8L		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	8	N-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGCCGAGGCCGAGGCCTTTGC	0.627																																																	0								G	LEU/SER	0,4406		0,0,2203	48	47	47		23	3	0	22		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRYBB1	NM_001887.3	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	8/253	27012261	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.23C>T	22.37:g.27012261G>A	ENSP00000215939:p.Ser8Leu			Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.S8L	ENST00000215939.2	37	c.23	CCDS13840.1	22	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847674	0.32606	0.0	1.16E-4	ENSG00000100122	ENST00000215939	T	0.76060	-0.99	3.98	2.96	0.34315	.	12.334900	0.02564	U	0.097041	T	0.59622	0.2207	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52351	-0.8587	10	0.72032	D	0.01	.	8.714	0.34401	0.1103:0.0:0.8897:0.0	.	8	P53674	CRBB1_HUMAN	L	8	ENSP00000215939:S8L	ENSP00000215939:S8L	S	-	2	0	CRYBB1	25342261	0.155000	0.22806	0.040000	0.18447	0.437000	0.31866	2.500000	0.45381	1.020000	0.39573	0.430000	0.28490	TCG	CRYBB1	-	NULL	ENSG00000100122		0.627	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBB1	HGNC	protein_coding	OTTHUMT00000320767.1	-	0	69	0	G	NM_001887		27012261	-1	tier1	-	no_errors	ENST00000215939	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.096	A	A	27012261	G	A	27012261	3	1	160	1	0	0	0	0	1	0	0	0	3917	1059	37	1	755	1	CRYBB1	22	27012261	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	901762	27012261	24292305	405	40902											
C22orf42	150297	genome.wustl.edu	37	chr22	32546459	32546459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctttcactgagatcttcGaccaaatctaggagaacata	14	10	8	9	1	3	2	1	1	2	2	4	5	3	2	1	2	1	1	1	2	4	4	rs374310346		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:32546459G>A	ENST00000382097.3	-	7	573	c.501C>T	c.(499-501)gtC>gtT	p.V167V	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	167										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TGAGATCTTCGACCAAATCTA	0.483																																																	0								G		0,4406		0,0,2203	94	82	86		501	-0.6	0	22		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C22orf42	NM_001010859.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		167/252	32546459	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.501C>T	22.37:g.32546459G>A			A4QPH5	Silent	SNP	NULL	p.V167	ENST00000382097.3	37	c.501	CCDS33639.1	22																																																																																			C22orf42	-	NULL	ENSG00000205856		0.483	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf42	HGNC	protein_coding	OTTHUMT00000075268.2	-	0	88	0	G	NM_001010859		32546459	-1	tier1	-	no_errors	ENST00000382097	ensembl	human	known	74_37	silent	9.84	55	6	SNP	0.000	A	A	32546459	G	A	32546459	2	1	160	1	0	0	0	0	0	0	0	1	2156	1045	37	1		1	C22orf42	22	32546459	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	5534198	32546459	18758107	406	40903											
SMCR7L	54471	genome.wustl.edu	37	chr22	39909685	39909685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagcagttactgggaccGctgtgtagtagggggctacc	7	9	17	8	1	0	0	0	0	0	0	0	2	0	2	2	4	3	6	2	4	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:39909685G>A	ENST00000325301.2	+	6	1173	c.749G>A	c.(748-750)cGc>cAc	p.R250H	MIEF1_ENST00000402881.1_Missense_Mutation_p.R250H|MIEF1_ENST00000404569.1_Missense_Mutation_p.R250H	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	250					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)	p.R250H(1)									TACTGGGACCGCTGTGTAGTA	0.527																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	0			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.749G>A	22.37:g.39909685G>A	ENSP00000327124:p.Arg250His		Q7L890|Q9BUI3	Missense_Mutation	SNP	NULL	p.R250H	ENST00000325301.2	37	c.749	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597280	0.87055	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.08984	3.03;3.03;3.03	6.07	5.05	0.67936	.	0.043881	0.85682	N	0.000000	T	0.27205	0.0667	M	0.66297	2.02	0.80722	D	1	D;B	0.89917	1.0;0.252	D;B	0.85130	0.997;0.071	T	0.01056	-1.1466	10	0.41790	T	0.15	-19.8594	15.4926	0.75619	0.0661:0.0:0.9339:0.0	.	250;250	Q9NQG6;B0QY95	MID51_HUMAN;.	H	250	ENSP00000385110:R250H;ENSP00000327124:R250H;ENSP00000385191:R250H	ENSP00000327124:R250H	R	+	2	0	SMCR7L	38239631	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.858000	0.99539	1.581000	0.49865	0.655000	0.94253	CGC	MIEF1	-	NULL	ENSG00000100335		0.527	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEF1	HGNC	protein_coding	OTTHUMT00000321325.1	-	0	66	0	G	NM_019008		39909685	1	tier1	-	no_errors	ENST00000325301	ensembl	human	known	74_37	missense	10.77	58	7	SNP	1.000	A	A	39909685	G	A	39909685	3	1	160	1	0	0	0	0	1	0	0	0	14836	1087	38	1	763	1	SMCR7L	22	39909685	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	7363226	39909685	11394881	407	40904											
A4GALT	53947	genome.wustl.edu	37	chr22	43089737	43089737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaagatgttgcctggagtgGggccgtgggagggtggggtg	6	8	23	4	1	0	2	0	0	0	2	0	4	0	4	2	7	1	1	2	7	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:43089737G>T	ENST00000401850.1	-	2	710	c.221C>A	c.(220-222)cCc>cAc	p.P74H	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000381278.3_Missense_Mutation_p.P74H|A4GALT_ENST00000249005.2_Missense_Mutation_p.P74H			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	74					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)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GCCTGGAGTGGGGCCGTGGGA	0.617																																																	0													30	32	31					22																	43089737		2203	4300	6503	SO:0001583	missense	0				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.221C>A	22.37:g.43089737G>T	ENSP00000384794:p.Pro74His		B2R7C4|Q9P1X5	Missense_Mutation	SNP	pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS	p.P74H	ENST00000401850.1	37	c.221	CCDS14041.1	22	.	.	.	.	.	.	.	.	.	.	g	10.34	1.321946	0.23994	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	D;D;D	0.81579	-1.51;-1.51;-1.51	5.09	4.08	0.47627	.	0.264544	0.25881	U	0.027684	T	0.66107	0.2756	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.55547	-0.8124	10	0.41790	T	0.15	-19.8758	7.7135	0.28692	0.0845:0.0:0.7549:0.1605	.	74	Q9NPC4	A4GAT_HUMAN	H	74	ENSP00000384794:P74H;ENSP00000249005:P74H;ENSP00000370678:P74H	ENSP00000249005:P74H	P	-	2	0	A4GALT	41419681	0.000000	0.05858	0.012000	0.15200	0.003000	0.03518	0.274000	0.18680	1.148000	0.42385	0.556000	0.70494	CCC	A4GALT	-	NULL	ENSG00000128274		0.617	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	A4GALT	HGNC	protein_coding	OTTHUMT00000319917.1	-	0	173	0	G	NM_017436		43089737	-1	tier1	-	no_errors	ENST00000249005	ensembl	human	known	74_37	missense	18.11	104	23	SNP	0.014	T	T	43089737	G	T	43089737	3	4	160	1	0	0	0	0	1	0	0	0	6	1232	43	3	844	3	A4GALT	22	43089737	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	3180052	43089737	8214829	408	40905											
SMC1B	27127	genome.wustl.edu	37	chr22	45802390	45802391	+	In_Frame_Ins	INS	-	-	TTG																															ctctgccgctatatttttttINStcttattaaagttaaactgt																										TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:45802390_45802391insTTG	ENST00000357450.4	-	4	564_565	c.565_566insCAA	c.(565-567)aaa>aCAAaa	p.188_189insT	SMC1B_ENST00000404354.3_In_Frame_Ins_p.188_189insT	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	188					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)		TATATTTTTTTTCTTATTAAAG	0.347																																																	0																																										SO:0001652	inframe_insertion	0			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.565_566insCAA	22.37:g.45802390_45802391insTTG	ENSP00000350036:p.Lys188_Lys189insThr		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	In_Frame_Ins	INS	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.189in_frame_insT	ENST00000357450.4	37	c.566_565	CCDS43027.1	22																																																																																			SMC1B	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000077935		0.347	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2		0	53	0	0	NM_148674		45802391	-1			no_errors	ENST00000357450	ensembl	human	known	74_37	in_frame_ins	8.75	73	7	INS	1.000:1.000	TTG	TTG	45802391	-	TTG	45802390	7	5	160	1	0	1	1	0	0	0	0	0	14827	1841	64	0	3229	0	SMC1B	22	45802390	In_Frame_Ins	INS	-	TCGA-V5-AASX-01A-11D-A387-09	2712653	45802390	5502176	409	40906											
ACR	49	genome.wustl.edu	37	chr22	51183125	51183125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaagacagcaaggaaagCgcctatgtggtcgtgggaat	13	7	14	7	2	0	1	0	0	0	1	1	3	0	3	1	3	3	2	1	3	5	1	rs200667515		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:51183125C>T	ENST00000216139.5	+	5	796	c.756C>T	c.(754-756)agC>agT	p.S252S	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	252	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GCAAGGAAAGCGCCTATGTGG	0.612																																																	0																																										SO:0001819	synonymous_variant	0			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"preproacrosin", "acrosin light and heavy chain prepropeptide"	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.756C>T	22.37:g.51183125C>T			Q6ICK2	Silent	SNP	pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.S252	ENST00000216139.5	37	c.756	CCDS14101.1	22																																																																																			ACR	-	pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000100312		0.612	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2	-	0	120	0	C	NM_001097		51183125	1	tier1	rs200667515	no_errors	ENST00000216139	ensembl	human	known	74_37	silent	7.95	81	7	SNP	0.000	T	T	51183125	C	T	51183125	2	4	160	1	0	0	0	0	0	0	0	1	169	767	27	1		1	ACR	22	51183125	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	5380735	51183125	121441	410	40907											
FRMPD4	9758	genome.wustl.edu	37	chrX	12734819	12734819	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tatgcagaaaacactgatgaCgcggaggacgaggacgaggt	14	5	15	7	4	0	3	0	2	0	1	0	8	0	6	0	4	2	1	0	4	3	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:12734819C>T	ENST00000380682.1	+	15	2747	c.2241C>T	c.(2239-2241)gaC>gaT	p.D747D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	747					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						ACACTGATGACGCGGAGGACG	0.567																																																	0													113	106	109					X																	12734819		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2241C>T	X.37:g.12734819C>T			A8K0X9|O15032	Silent	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.D747	ENST00000380682.1	37	c.2241	CCDS35201.1	X																																																																																			FRMPD4	-	NULL	ENSG00000169933		0.567	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	-	0	30	0	C	XM_045712		12734819	1	tier1	-	no_errors	ENST00000380682	ensembl	human	known	74_37	silent	25.93	20	7	SNP	0.831	T	T	12734819	C	T	12734819	2	4	160	1	0	0	0	0	0	0	0	1	6083	535	19	1		1	FRMPD4	23	12734819	Silent	SNP	C	TCGA-V5-AASX-01A-11D-A387-09		12734819	142535741	411	40908											
BCOR	54880	genome.wustl.edu	37	chrX	39922265	39922265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgagcctgctttttgcCgcctgcactggtggatgaaa	6	12	13	10	1	0	2	0	2	0	0	0	3	0	3	3	3	4	3	3	3	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:39922265C>T	ENST00000378444.4	-	9	4135	c.3907G>A	c.(3907-3909)Ggc>Agc	p.G1303S	BCOR_ENST00000397354.3_Missense_Mutation_p.G1269S|BCOR_ENST00000378455.4_Missense_Mutation_p.G1251S|BCOR_ENST00000342274.4_Missense_Mutation_p.G1269S|BCOR_ENST00000378463.1_Missense_Mutation_p.G146S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1303					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						TGCTTTTTGCCGCCTGCACTG	0.582			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													45	39	41					X																	39922265		2184	4268	6452	SO:0001583	missense	0			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.3907G>A	X.37:g.39922265C>T	ENSP00000367705:p.Gly1303Ser		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G1303S	ENST00000378444.4	37	c.3907	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464898	0.26335	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T	0.65364	-0.15;1.22;1.28;1.25;1.25;1.25	5.87	5.87	0.94306	.	.	.	.	.	T	0.28433	0.0703	N	0.08118	0	0.37018	D	0.896041	B;P;B	0.43392	0.448;0.805;0.448	B;B;B	0.25884	0.049;0.064;0.061	T	0.38351	-0.9665	9	0.10902	T	0.67	-25.6834	6.8121	0.23811	0.0:0.7707:0.0:0.2293	.	1251;1303;1269	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	S	173;146;1251;1269;1303;1269;1269	ENSP00000408006:G173S;ENSP00000367724:G146S;ENSP00000367716:G1251S;ENSP00000380512:G1269S;ENSP00000367705:G1303S;ENSP00000345923:G1269S	ENSP00000345923:G1269S	G	-	1	0	BCOR	39807209	1.000000	0.71417	0.996000	0.52242	0.853000	0.48598	1.072000	0.30678	2.467000	0.83353	0.600000	0.82982	GGC	BCOR	-	NULL	ENSG00000183337		0.582	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	-	0	42	0	C	NM_017745		39922265	-1	tier1	-	no_errors	ENST00000378444	ensembl	human	known	74_37	missense	23.26	33	10	SNP	1.000	T	T	39922265	C	T	39922265	3	4	160	1	0	0	0	0	1	0	0	0	1387	652	23	1	1388	1	BCOR	23	39922265	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	27187446	39922265	115348295	412	40909											
PHF16	9767	genome.wustl.edu	37	chrX	46857593	46857593	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attaatcctgatagctattaCctctttgctgatacatggaa	12	15	6	8	0	1	2	0	2	1	0	2	3	2	3	2	1	4	2	2	1	6	6			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:46857593C>A	ENST00000218343.4	+	4	496	c.198C>A	c.(196-198)taC>taA	p.Y66*	PHF16_ENST00000397189.1_Nonsense_Mutation_p.Y66*	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						ATAGCTATTACCTCTTTGCTG	0.453																																																	0													167	137	147					X																	46857593		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000218343.4:c.198C>A	X.37:g.46857593C>A	ENSP00000218343:p.Tyr66*			Nonsense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Y66*	ENST00000218343.4	37	c.198	CCDS14271.1	X	.	.	.	.	.	.	.	.	.	.	C	38	6.974240	0.97975	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343;ENST00000455411	.	.	.	5.21	3.39	0.38822	.	0.114999	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1773	0.48607	0.0:0.7742:0.0:0.2258	.	.	.	.	X	66	.	ENSP00000218343:Y66X	Y	+	3	2	PHF16	46742537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.905000	0.39878	1.080000	0.41073	0.513000	0.50165	TAC	PHF16	-	pfam_Enhancer_polycomb-like_N	ENSG00000102221		0.453	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1		0	54	0	C			46857593	1			no_errors	ENST00000218343	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	A	A	46857593	C	A	46857593	4	1	160	1	0	0	0	0	0	1	0	0	11866	518	18	3	208	3	PHF16	23	46857593	Nonsense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	6935328	46857593	108412967	413	40910											
GLOD5	392465	genome.wustl.edu	37	chrX	48629452	48629452	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tcctggctccctggacatatGtctgatcacagaggtgcctt	7	12	10	12	0	2	2	1	1	1	1	4	3	4	3	3	3	1	1	3	3	1	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:48629452G>A	ENST00000303227.6	+	3	352	c.311G>A	c.(310-312)tGt>tAt	p.C104Y	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	104										endometrium(1)|lung(2)	3						CTGGACATATGTCTGATCACA	0.483																																																	0													61	56	57					X																	48629452		1879	4106	5985	SO:0001583	missense	0				CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.311G>A	X.37:g.48629452G>A	ENSP00000302552:p.Cys104Tyr			Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom	p.C104Y	ENST00000303227.6	37	c.311	CCDS55410.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.7|20.7	4.029701|4.029701	0.75504|0.75504	.|.	.|.	ENSG00000171433|ENSG00000171433	ENST00000303227|ENST00000445229	.|.	.|.	.|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87402|0.87402	0.6168|0.6168	H|H	0.96996|0.96996	3.92|3.92	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91576|0.91576	0.5275|0.5275	9|5	0.87932|.	D|.	0|.	.|.	14.4452|14.4452	0.67345|0.67345	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	92|.	A6NK44|.	GLOD5_HUMAN|.	Y|I	104|71	.|.	ENSP00000302552:C104Y|.	C|V	+|+	2|1	0|0	GLOD5|GLOD5	48514396|48514396	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.929000|0.929000	0.56500|0.56500	7.893000|7.893000	0.87330|0.87330	2.077000|2.077000	0.62373|0.62373	0.380000|0.380000	0.24917|0.24917	TGT|GTC	GLOD5	-	pfam_Glyas_Fos-R_dOase_dom	ENSG00000171433		0.483	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLOD5	HGNC	protein_coding		-	0	41	0	G	NM_001080489		48629452	1	tier1	-	no_errors	ENST00000303227	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	48629452	G	A	48629452	3	1	160	1	0	0	0	0	1	0	0	0	6477	1377	48	3	321	3	GLOD5	23	48629452	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	1771859	48629452	106641108	414	40911											
MAGED2	10916	genome.wustl.edu	37	chrX	54842001	54842001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcaccagtggtggcttCagtgctggtgccagcctgac	6	8	14	13	0	1	1	1	1	0	0	1	1	1	1	4	3	4	3	4	3	0	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:54842001C>A	ENST00000375068.1	+	12	1940	c.1707C>A	c.(1705-1707)ttC>ttA	p.F569L	MAGED2_ENST00000218439.4_Missense_Mutation_p.F569L|MAGED2_ENST00000396224.1_Missense_Mutation_p.F569L|MAGED2_ENST00000375053.2_Missense_Mutation_p.F569L|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375060.1_Missense_Mutation_p.F484L|MAGED2_ENST00000375062.4_Missense_Mutation_p.F484L|MAGED2_ENST00000347546.4_Missense_Mutation_p.F551L|MAGED2_ENST00000375058.1_Missense_Mutation_p.F569L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	569						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						gtgGTGGCTTCAGTGCTGGTG	0.597																																																	0													29	19	22					X																	54842001		2171	4221	6392	SO:0001583	missense	0			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.1707C>A	X.37:g.54842001C>A	ENSP00000364209:p.Phe569Leu		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.F569L	ENST00000375068.1	37	c.1707	CCDS14362.1	X	.	.	.	.	.	.	.	.	.	.	C	6.326	0.428257	0.11987	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.03745	3.82;3.82;3.97;3.84;3.87;3.82;3.82;3.87;3.82	3.9	-0.295	0.12828	.	0.316688	0.23118	N	0.051727	T	0.05410	0.0143	L	0.29908	0.895	0.09310	N	1	P;P	0.52842	0.956;0.956	P;P	0.62184	0.899;0.899	T	0.10382	-1.0632	10	0.02654	T	1	.	9.858	0.41096	0.0:0.8158:0.0:0.1842	.	484;569	Q5H907;Q9UNF1	.;MAGD2_HUMAN	L	569;569;513;551;484;569;569;484;569	ENSP00000364209:F569L;ENSP00000364193:F569L;ENSP00000336962:F513L;ENSP00000340290:F551L;ENSP00000364202:F484L;ENSP00000218439:F569L;ENSP00000364198:F569L;ENSP00000364200:F484L;ENSP00000379526:F569L	ENSP00000218439:F569L	F	+	3	2	MAGED2	54858726	0.181000	0.23161	0.054000	0.19295	0.251000	0.25915	-0.226000	0.09139	-0.184000	0.10567	0.513000	0.50165	TTC	MAGED2	-	NULL	ENSG00000102316		0.597	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	-	0	37	0	C	NM_014599		54842001	1	tier1	-	no_errors	ENST00000218439	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.049	A	A	54842001	C	A	54842001	3	1	160	1	0	0	0	0	1	0	0	0	9222	825	29	3	1749	3	MAGED2	23	54842001	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	6212549	54842001	100428559	415	40912											
STARD8	9754	genome.wustl.edu	37	chrX	67944242	67944242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccccaccctgcaggcagCgggccctgagacaaagctgt	8	6	11	16	1	0	1	0	1	0	1	1	2	1	1	4	2	3	3	4	2	1	1			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:67944242C>T	ENST00000252336.6	+	14	3422	c.3050C>T	c.(3049-3051)gCg>gTg	p.A1017V	STARD8_ENST00000374597.3_Missense_Mutation_p.A1017V|STARD8_ENST00000374599.3_Missense_Mutation_p.A1097V	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	1017	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGCAGGCAGCGGGCCCTGAG	0.632																																																	0													32	27	28					X																	67944242		2201	4298	6499	SO:0001583	missense	0			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.3050C>T	X.37:g.67944242C>T	ENSP00000252336:p.Ala1017Val		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.A1097V	ENST00000252336.6	37	c.3290	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	C	5.264	0.234203	0.09969	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07567	3.18;3.18;3.18	5.24	-2.22	0.06952	Lipid-binding START (1);	1.000170	0.08070	N	0.999655	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;P	0.35456	0.184;0.502	B;B	0.33568	0.103;0.166	T	0.35076	-0.9803	10	0.54805	T	0.06	.	2.5029	0.04638	0.0957:0.286:0.3003:0.3179	.	1097;1017	Q92502-2;Q92502	.;STAR8_HUMAN	V	1017;1097;1017	ENSP00000252336:A1017V;ENSP00000363727:A1097V;ENSP00000363725:A1017V	ENSP00000252336:A1017V	A	+	2	0	STARD8	67860967	0.000000	0.05858	0.085000	0.20634	0.002000	0.02628	-0.008000	0.12788	-0.729000	0.04875	-1.916000	0.00518	GCG	STARD8	-	smart_START_lipid-bd_dom	ENSG00000130052		0.632	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	-	0	32	0	C	NM_014725		67944242	1	tier1	-	no_errors	ENST00000374599	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	T	T	67944242	C	T	67944242	3	4	160	1	0	0	0	0	1	0	0	0	15310	768	27	1	3348	1	STARD8	23	67944242	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	13102241	67944242	87326318	416	40913											
GJB1	2705	genome.wustl.edu	37	chrX	70443602	70443602	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgctcagtggcgtgaaccgGcattctactgccattggccg	6	11	12	12	3	2	1	1	1	1	0	2	1	2	1	3	3	4	2	3	3	2	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:70443602G>T	ENST00000374022.3	+	2	140	c.45G>T	c.(43-45)cgG>cgT	p.R15R	GJB1_ENST00000374029.1_Silent_p.R15R|GJB1_ENST00000361726.6_Silent_p.R15R	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	15			R -> Q (in CMTX1). {ECO:0000269|PubMed:8162049, ECO:0000269|PubMed:9361298}.|R -> W (in CMTX1; moderate). {ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:9099841, ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9452099}.		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)					GCGTGAACCGGCATTCTACTG	0.517																																																	0													123	94	104					X																	70443602		2203	4300	6503	SO:0001819	synonymous_variant	0			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.45G>T	X.37:g.70443602G>T			B2R8R2|D3DVV2|Q5U0S4	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32	p.R15	ENST00000374022.3	37	c.45	CCDS14408.1	X																																																																																			GJB1	-	pfam_Connexin_N	ENSG00000169562		0.517	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB1	HGNC	protein_coding	OTTHUMT00000057133.1		0	77	0	G	NM_000166		70443602	1			no_errors	ENST00000361726	ensembl	human	known	74_37	silent	5.88	48	3	SNP	1.000	T	T	70443602	G	T	70443602	2	4	160	1	0	0	0	0	0	0	0	1	6433	1190	42	3		3	GJB1	23	70443602	Silent	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	2499360	70443602	84826958	417	40914											
SLC16A2	6567	genome.wustl.edu	37	chrX	73751336	73751336	+	Missense_Mutation	SNP	A	A	G	1	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	gatgttggcccctgacccagAccccaatggggagctactgc	8	7	12	14	0	0	2	0	1	0	1	0	4	0	3	5	3	3	2	5	3	2	2			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:73751336A>G	ENST00000587091.1	+	6	1745	c.1568A>G	c.(1567-1569)gAc>gGc	p.D523G	SLC16A2_ENST00000276033.5_Missense_Mutation_p.D597G	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	523					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)	CCTGACCCAGACCCCAATGGG	0.537																																																	0													82	75	78					X																	73751336		2203	4300	6503	SO:0001583	missense	0				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.1568A>G	X.37:g.73751336A>G	ENSP00000465734:p.Asp523Gly		Q7Z797	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D597G	ENST00000587091.1	37	c.1790	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	A	9.598	1.127990	0.20959	.	.	ENSG00000147100	ENST00000276033	T	0.10099	2.91	5.3	1.23	0.21249	Major facilitator superfamily domain (1);	0.492954	0.22074	N	0.064996	T	0.02767	0.0083	N	0.00926	-1.1	0.24081	N	0.995941	B	0.33777	0.425	B	0.36808	0.233	T	0.28396	-1.0045	10	0.36615	T	0.2	.	0.8461	0.01161	0.3979:0.1304:0.112:0.3597	.	523	P36021	MOT8_HUMAN	G	597	ENSP00000276033:D597G	ENSP00000276033:D597G	D	+	2	0	SLC16A2	73668061	1.000000	0.71417	0.987000	0.45799	0.789000	0.44602	2.109000	0.41863	0.193000	0.20303	0.430000	0.28490	GAC	SLC16A2	-	pfscan_MFS_dom	ENSG00000147100		0.537	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3		0	34	0	A			73751336	1			no_errors	ENST00000276033	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.986	G	G	73751336	A	G	73751336	3	3	160	1	0	0	0	0	1	0	0	0	14453	275	10	4	1812	4	SLC16A2	23	73751336	Missense_Mutation	SNP	A	TCGA-V5-AASX-01A-11D-A387-09	3307734	73751336	81519224	418	40915											
NAP1L3	4675	genome.wustl.edu	37	chrX	92926799	92926799	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacttattttctgtatttcTtgtttccataatgtttgcca	7	22	5	7	0	2	1	0	1	2	0	3	1	3	1	2	0	1	3	2	0	3	9			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:92926799T>C	ENST00000373079.3	-	1	1768	c.1505A>G	c.(1504-1506)aAg>aGg	p.K502R	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.K495R	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	502					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCTGTATTTCTTGTTTCCATA	0.318																																																	0													64	57	59					X																	92926799		2202	4298	6500	SO:0001583	missense	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1505A>G	X.37:g.92926799T>C	ENSP00000362171:p.Lys502Arg		B2RCM0|O60788	Missense_Mutation	SNP	pfam_NAP_family	p.K502R	ENST00000373079.3	37	c.1505	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.616570	0.00007	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.28454	1.61	3.54	0.78	0.18556	.	0.186806	0.44285	N	0.000462	T	0.06962	0.0177	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39035	-0.9633	10	0.02654	T	1	.	6.1562	0.20338	0.0:0.5045:0.0:0.4955	.	502	Q99457	NP1L3_HUMAN	R	502;495	ENSP00000362171:K502R	ENSP00000362171:K502R	K	-	2	0	NAP1L3	92813455	0.014000	0.17966	0.000000	0.03702	0.042000	0.13812	0.203000	0.17315	0.041000	0.15688	-1.204000	0.01649	AAG	NAP1L3	-	NULL	ENSG00000186310		0.318	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	-	0	23	0	T	NM_004538		92926799	-1	tier1	-	no_errors	ENST00000373079	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.003	C	C	92926799	T	C	92926799	3	2	160	1	0	0	0	0	1	0	0	0	10196	1609	56	4	19	4	NAP1L3	23	92926799	Missense_Mutation	SNP	T	TCGA-V5-AASX-01A-11D-A387-09	19175463	92926799	62343761	419	40916											
IL13RA2	3598	genome.wustl.edu	37	chrX	114245244	114245244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtgaaataactggatctGataggcttgttctctgatga	13	13	10	5	0	2	4	0	4	2	0	3	5	2	5	0	2	1	2	0	2	4	4			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:114245244G>C	ENST00000371936.1	-	7	918	c.669C>G	c.(667-669)atC>atG	p.I223M	IL13RA2_ENST00000243213.1_Missense_Mutation_p.I223M			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	223	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AACTGGATCTGATAGGCTTGT	0.338																																																	0													127	119	122					X																	114245244		2203	4300	6503	SO:0001583	missense	0			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"Interleukins and interleukin receptors", "CD molecules"	5975	protein-coding gene	gene with protein product	"cancer/testis antigen 19"	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.669C>G	X.37:g.114245244G>C	ENSP00000361004:p.Ile223Met		A8K7E2|O00667	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.I223M	ENST00000371936.1	37	c.669	CCDS14565.1	X	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692674	0.48202	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.85258	-1.96;-1.96	5.15	3.28	0.37604	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.151370	0.48286	D	0.000198	D	0.89350	0.6690	M	0.85777	2.775	0.35083	D	0.763587	P;D	0.53745	0.945;0.962	P;P	0.57324	0.783;0.818	D	0.90890	0.4760	10	0.66056	D	0.02	-11.8635	5.6521	0.17622	0.1119:0.2129:0.6752:0.0	.	223;223	D0EFR8;Q14627	.;I13R2_HUMAN	M	223	ENSP00000361004:I223M;ENSP00000243213:I223M	ENSP00000243213:I223M	I	-	3	3	IL13RA2	114151500	0.817000	0.29147	0.975000	0.42487	0.761000	0.43186	0.395000	0.20850	1.140000	0.42260	0.544000	0.68410	ATC	IL13RA2	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	ENSG00000123496		0.338	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	-	0	34	0	G	NM_000640		114245244	-1	tier1	-	no_errors	ENST00000243213	ensembl	human	known	74_37	missense	12.86	61	9	SNP	0.893	C	C	114245244	G	C	114245244	3	2	160	1	0	0	0	0	1	0	0	0	7657	1280	45	5	493	5	IL13RA2	23	114245244	Missense_Mutation	SNP	G	TCGA-V5-AASX-01A-11D-A387-09	21318445	114245244	41025316	420	40917											
CDR1	1038	genome.wustl.edu	37	chrX	139866465	139866465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccaacaaaggtacgtcttCcaacaaaggtatgtcttcca	13	11	6	11	1	2	0	0	0	2	0	5	0	5	0	3	2	3	2	3	2	6	5			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:139866465C>T	ENST00000370532.2	-	1	258	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	23	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGTACGTCTTCCAACAAAGGT	0.428																																																	0													183	173	177					X																	139866465		2203	4300	6503	SO:0001583	missense	0				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.67G>A	X.37:g.139866465C>T	ENSP00000359563:p.Glu23Lys		Q5JXH6	Missense_Mutation	SNP	NULL	p.E23K	ENST00000370532.2	37	c.67	CCDS14670.1	X	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528402	0.44969	.	.	ENSG00000184258	ENST00000370532	T	0.37411	1.2	3.32	1.41	0.22369	.	.	.	.	.	T	0.21307	0.0513	L	0.32530	0.975	0.29382	N	0.863262	P	0.37101	0.582	B	0.31614	0.133	T	0.12915	-1.0529	8	.	.	.	.	5.9711	0.19353	0.0:0.683:0.1918:0.1252	.	23	P51861	CDR1_HUMAN	K	23	ENSP00000359563:E23K	.	E	-	1	0	CDR1	139694131	0.001000	0.12720	0.022000	0.16811	0.002000	0.02628	0.505000	0.22642	0.078000	0.16900	-0.516000	0.04426	GAA	CDR1	-	NULL	ENSG00000184258		0.428	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR1	HGNC	protein_coding	OTTHUMT00000058583.1	-	0	51	0	C	NM_004065		139866465	-1	tier1	-	no_errors	ENST00000370532	ensembl	human	known	74_37	missense	15.38	66	12	SNP	0.853	T	T	139866465	C	T	139866465	3	4	160	1	0	0	0	0	1	0	0	0	3178	864	30	3	725	3	CDR1	23	139866465	Missense_Mutation	SNP	C	TCGA-V5-AASX-01A-11D-A387-09	25621221	139866465	15404095	421	40918											
USP48	84196	genome.wustl.edu	37	chr1	22074729	22074729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgctttgacagttctcGcaaaaatagcgattgtctcc	9	15	8	9	2	2	1	0	1	2	0	4	2	2	1	1	0	2	4	1	0	3	5			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr1:22074729G>A	ENST00000308271.9	-	7	1458	c.810C>T	c.(808-810)tgC>tgT	p.C270C	USP48_ENST00000529637.1_Silent_p.C270C|USP48_ENST00000400301.1_Silent_p.C270C|USP48_ENST00000421625.2_Silent_p.C270C	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	270	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)		GACAGTTCTCGCAAAAATAGC	0.353																																																	0													151	126	134					1																	22074729		2203	4300	6503	SO:0001819	synonymous_variant	0			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.810C>T	1.37:g.22074729G>A			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.C270	ENST00000308271.9	37	c.810	CCDS30623.1	1																																																																																			USP48	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000090686		0.353	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	-	0	57	0	G	NM_032236		22074729	-1	tier1	-	no_errors	ENST00000308271	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	A	A	22074729	G	A	22074729	2	1	161	1	0	0	0	0	0	0	0	1	17128	1079	38	1		1	USP48	1	22074729	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09		22074729	227175892	1	40919											
CCDC76	54482	genome.wustl.edu	37	chr1	100598836	100598836	+	Frame_Shift_Del	DEL	A	A	-																															ggatggtggtggccgcagggAaaagattttgtggtgaacac																										TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr1:100598836delA	ENST00000370141.2	+	1	118	c.112delA	c.(112-114)aaafs	p.K38fs	SASS6_ENST00000462159.1_5'Flank|TRMT13_ENST00000370139.1_Frame_Shift_Del_p.K7fs|SASS6_ENST00000535161.1_5'Flank|TRMT13_ENST00000370143.1_Frame_Shift_Del_p.K38fs|SASS6_ENST00000287482.5_5'Flank	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	38					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										GGCCGCAGGGAAAAGATTTTG	0.562																																																	0													72	70	71					1																	100598836		2203	4300	6503	SO:0001589	frameshift_variant	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.112delA	1.37:g.100598836delA	ENSP00000359160:p.Lys38fs		Q5VVL0|Q9NW65	Frame_Shift_Del	DEL	pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.R39fs	ENST00000370141.2	37	c.112	CCDS765.1	1																																																																																			TRMT13	-	pfam_Znf_CCCH-type_TRM13	ENSG00000122435		0.562	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	HGNC	protein_coding	OTTHUMT00000029919.1		0	36	0	A	NM_019083		100598836	1	tier1		no_errors	ENST00000370141	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.971	-	-	100598836	A	-	100598836	7	5	161	1	0	1	0	1	0	0	0	0	2857	247	9	0	114	0	CCDC76	1	100598836	Frame_Shift_Del	DEL	A	TCGA-VR-A8EO-01A-11D-A36J-09	78524107	100598836	148651785	2	40920											
PPM1J	333926	genome.wustl.edu	37	chr1	113254598	113254598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggttcctacttacaagcaGctgaagacgctggcgctcag	9	10	11	11	2	1	2	1	1	0	1	2	2	2	2	1	2	4	5	1	2	4	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr1:113254598G>T	ENST00000309276.6	-	5	1097	c.922C>A	c.(922-924)Ctg>Atg	p.L308M	RP11-426L16.10_ENST00000471038.2_5'Flank|PPM1J_ENST00000464951.1_Missense_Mutation_p.L102M|RP11-426L16.10_ENST00000606505.1_5'Flank|PPM1J_ENST00000359994.4_Missense_Mutation_p.L102M	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	308	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTACAAGCAGCTGAAGACGC	0.547																																																	0													42	40	40					1																	113254598		2203	4300	6503	SO:0001583	missense	0			AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.922C>A	1.37:g.113254598G>T	ENSP00000308926:p.Leu308Met		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.L308M	ENST00000309276.6	37	c.922	CCDS855.2	1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658887	0.67586	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.09630	2.96;2.96	5.64	3.77	0.43336	Protein phosphatase 2C-like (5);	0.145973	0.47455	D	0.000222	T	0.07188	0.0182	L	0.34521	1.04	0.80722	D	1	D;B	0.58970	0.984;0.171	P;B	0.60541	0.876;0.089	T	0.28332	-1.0047	10	0.34782	T	0.22	-9.8427	4.1814	0.10378	0.2597:0.0:0.5761:0.1642	.	308;102	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	M	308;102	ENSP00000308926:L308M;ENSP00000353088:L102M	ENSP00000308926:L308M	L	-	1	2	PPM1J	113056121	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.522000	0.35921	0.861000	0.35504	0.561000	0.74099	CTG	PPM1J	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000155367		0.547	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1J	HGNC	protein_coding	OTTHUMT00000033251.1		0	132	0	G	NM_005167		113254598	-1			no_errors	ENST00000309276	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	113254598	G	T	113254598	3	4	161	1	0	0	0	0	1	0	0	0	12384	962	34	3	619	3	PPM1J	1	113254598	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	12655762	113254598	135996023	3	40921											
CD101	9398	genome.wustl.edu	37	chr1	117561053	117561053	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cacaactcctagtccatgatGccactgaggaagagacagga	14	6	10	11	0	0	3	0	2	0	1	2	6	2	5	3	2	2	0	3	2	3	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr1:117561053G>T	ENST00000256652.4	+	6	1946	c.1888G>T	c.(1888-1890)Gcc>Tcc	p.A630S	CD101_ENST00000369470.1_Missense_Mutation_p.A630S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	630	Ig-like C2-type 5.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGTCCATGATGCCACTGAGGA	0.468																																																	0													105	102	103					1																	117561053		2203	4300	6503	SO:0001583	missense	0			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1888G>T	1.37:g.117561053G>T	ENSP00000256652:p.Ala630Ser		Q15856	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.A630S	ENST00000256652.4	37	c.1888	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466656	0.43839	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	D;D	0.94793	-3.52;-3.52	5.09	4.15	0.48705	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000066	D	0.89615	0.6766	M	0.78637	2.42	0.30764	N	0.743815	P	0.36753	0.568	B	0.33568	0.166	D	0.87413	0.2377	10	0.72032	D	0.01	-11.5254	10.5844	0.45273	0.0:0.0:0.8079:0.1921	.	630	Q93033	IGSF2_HUMAN	S	630	ENSP00000256652:A630S;ENSP00000358482:A630S	ENSP00000256652:A630S	A	+	1	0	CD101	117362576	1.000000	0.71417	0.286000	0.24833	0.585000	0.36419	3.497000	0.53295	1.338000	0.45544	0.655000	0.94253	GCC	CD101	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000134256		0.468	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1		0	39	0	G	NM_004258		117561053	1			no_errors	ENST00000256652	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.958	T	T	117561053	G	T	117561053	3	4	161	1	0	0	0	0	1	0	0	0	2969	1319	46	3	1910	3	CD101	1	117561053	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	4306455	117561053	131689568	4	40922											
TCHH	7062	genome.wustl.edu	37	chr1	152084666	152084666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcgcgcctctcctcctGctcgcgcctcagctgctgct	1	11	9	20	4	2	0	1	0	1	0	6	0	3	0	4	0	5	5	4	0	0	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr1:152084666G>C	ENST00000368804.1	-	2	1026	c.1027C>G	c.(1027-1029)Cag>Gag	p.Q343E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	343	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)			ctctcctcctgctcgcgcctc	0.716																																																	0													11	15	14					1																	152084666		1927	3989	5916	SO:0001583	missense	0			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.1027C>G	1.37:g.152084666G>C	ENSP00000357794:p.Gln343Glu		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Q343E	ENST00000368804.1	37	c.1027	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	N	6.893	0.534184	0.13188	.	.	ENSG00000159450	ENST00000368804	T	0.05649	3.41	4.0	-5.61	0.02489	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49113	-0.8973	9	0.02654	T	1	.	13.7826	0.63091	0.0:0.6395:0.2464:0.1142	.	343	Q07283	TRHY_HUMAN	E	343	ENSP00000357794:Q343E	ENSP00000357794:Q343E	Q	-	1	0	TCHH	150351290	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.355000	0.07671	-0.723000	0.04915	-2.716000	0.00133	CAG	TCHH	-	NULL	ENSG00000159450		0.716	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	52	0	G	NM_007113		152084666	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	5.15	128	7	SNP	0.000	C	C	152084666	G	C	152084666	3	2	161	1	0	0	0	0	1	0	0	0	15747	1328	46	5	4808	5	TCHH	1	152084666	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	34523613	152084666	97165955	5	40923											
BAT2L2	23215	genome.wustl.edu	37	chr1	171511112	171511112	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgggaaacagcttctGaaagcagtgatttcaatgag	16	9	11	5	0	2	4	1	3	1	1	2	5	2	5	0	1	3	2	0	1	5	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr1:171511112G>T	ENST00000338920.4	+	16	4738	c.4501G>T	c.(4501-4503)Gaa>Taa	p.E1501*	PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1503*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1501*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.E1503*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1501					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AACAGCTTCTGAAAGCAGTGA	0.398																																																	0													72	77	75					1																	171511112		2203	4300	6503	SO:0001587	stop_gained	0			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.4501G>T	1.37:g.171511112G>T	ENSP00000343629:p.Glu1501*		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	pfam_BAT2_N	p.E1503*	ENST00000338920.4	37	c.4507	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	G	47	13.134354	0.99722	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.	.	.	5.65	5.65	0.86999	.	0.000000	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7924	0.96464	0.0:0.0:1.0:0.0	.	.	.	.	X	1503;1502;1501;1503;1501;1258	.	ENSP00000343629:E1501X	E	+	1	0	PRRC2C	169777736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.461000	0.97646	2.660000	0.90430	0.650000	0.86243	GAA	PRRC2C	-	NULL	ENSG00000117523		0.398	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	-	0	43	0	G	NM_015172		171511112	1	tier1	-	no_errors	ENST00000392078	ensembl	human	known	74_37	nonsense	13.04	20	3	SNP	1.000	T	T	171511112	G	T	171511112	4	4	161	1	0	0	0	0	0	1	0	0	1322	1291	45	3	4559	3	BAT2L2	1	171511112	Nonsense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	19426446	171511112	77739509	6	40924											
TOR3A	64222	genome.wustl.edu	37	chr1	179057075	179057075	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagccagatccgggagacGcagcagctctgccaccagac	11	4	12	14	2	1	4	0	1	1	3	2	5	2	4	4	1	4	3	4	1	0	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr1:179057075G>T	ENST00000367627.3	+	4	1421	c.669G>T	c.(667-669)acG>acT	p.T223T	TOR3A_ENST00000352445.6_Silent_p.T223T|TOR3A_ENST00000495145.1_3'UTR	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	223					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						TCCGGGAGACGCAGCAGCTCT	0.627																																																	0													47	51	50					1																	179057075		2203	4300	6503	SO:0001819	synonymous_variant	0			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.669G>T	1.37:g.179057075G>T			B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Silent	SNP	pfam_Torsin,superfamily_P-loop_NTPase	p.T223	ENST00000367627.3	37	c.669	CCDS1329.1	1																																																																																			TOR3A	-	pfam_Torsin,superfamily_P-loop_NTPase	ENSG00000186283		0.627	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR3A	HGNC	protein_coding	OTTHUMT00000084927.1		0	62	0	G	NM_022371		179057075	1			no_errors	ENST00000367627	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.364	T	T	179057075	G	T	179057075	2	4	161	1	0	0	0	0	0	0	0	1	16424	1074	38	2		2	TOR3A	1	179057075	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	7545963	179057075	70193546	7	40925											
IKBKE	9641	genome.wustl.edu	37	chr1	206653841	206653841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggaagtggcaaggacatcCctcctctacctcagcagcag	10	7	10	14	0	2	0	1	0	1	0	4	2	4	2	3	3	3	3	3	3	3	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr1:206653841C>T	ENST00000367120.3	+	13	1765	c.1392C>T	c.(1390-1392)tcC>tcT	p.S464S	IKBKE_ENST00000537984.1_Silent_p.S379S	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	464	Interaction with DDX3X.				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)					CAAGGACATCCCTCCTCTACC	0.617																																																	0													106	79	88					1																	206653841		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1392C>T	1.37:g.206653841C>T			D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S464	ENST00000367120.3	37	c.1392	CCDS30996.1	1																																																																																			IKBKE	-	NULL	ENSG00000143466		0.617	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	-	0	56	0	C			206653841	1	tier1	-	no_errors	ENST00000367120	ensembl	human	known	74_37	silent	73.53	18	50	SNP	0.745	T	T	206653841	C	T	206653841	2	4	161	1	0	0	0	0	0	0	0	1	7639	610	22	3		3	IKBKE	1	206653841	Silent	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	27596766	206653841	42596780	8	40926											
ANGEL2	90806	genome.wustl.edu	37	chr1	213181560	213181560	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgcacttacgtctgcatCaaaatgtttaatttctttca	10	19	4	8	1	4	0	2	0	2	0	4	0	4	0	0	0	3	3	0	0	4	7			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr1:213181560C>G	ENST00000366962.3	-	3	788	c.634G>C	c.(634-636)Gat>Cat	p.D212H	ANGEL2_ENST00000544555.1_Missense_Mutation_p.D43H|ANGEL2_ENST00000535388.1_Missense_Mutation_p.D43H|ANGEL2_ENST00000360506.2_Missense_Mutation_p.D43H|ANGEL2_ENST00000540642.1_Missense_Mutation_p.D86H	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	212										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		ACGTCTGCATCAAAATGTTTA	0.403																																																	0													35	37	36					1																	213181560		2203	4300	6503	SO:0001583	missense	0			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.634G>C	1.37:g.213181560C>G	ENSP00000355929:p.Asp212His		B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.D212H	ENST00000366962.3	37	c.634	CCDS1512.1	1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839452	0.71488	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388;ENST00000310246	D;D;D;D;D	0.96041	-3.89;-1.58;-1.58;-3.89;-1.58	5.41	4.49	0.54785	Endonuclease/exonuclease/phosphatase (2);	0.253347	0.46145	D	0.000312	D	0.96237	0.8773	M	0.62266	1.93	0.54753	D	0.999989	D;D;D	0.64830	0.973;0.994;0.979	P;D;P	0.67900	0.784;0.954;0.903	D	0.95554	0.8623	10	0.72032	D	0.01	-22.552	8.2909	0.31956	0.0:0.7762:0.0:0.2238	.	86;190;212	F5H476;Q96AL9;Q5VTE6	.;.;ANGE2_HUMAN	H	212;43;43;86;43;190	ENSP00000355929:D212H;ENSP00000353696:D43H;ENSP00000443193:D43H;ENSP00000446124:D86H;ENSP00000438141:D43H	ENSP00000309755:D190H	D	-	1	0	ANGEL2	211248183	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	1.371000	0.34250	2.513000	0.84729	0.591000	0.81541	GAT	ANGEL2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000174606		0.403	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	HGNC	protein_coding	OTTHUMT00000089693.1	-	0	43	0	C	NM_144567		213181560	-1	tier1	-	no_errors	ENST00000366962	ensembl	human	known	74_37	missense	71.88	18	46	SNP	0.935	G	G	213181560	C	G	213181560	3	3	161	1	0	0	0	0	1	0	0	0	609	826	29	5	1028	5	ANGEL2	1	213181560	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	6527719	213181560	36069061	9	40927											
CENPF	1063	genome.wustl.edu	37	chr1	214818975	214818975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccttcagactttgtcctCtgatgtgagtgagctgttaa	8	15	9	9	0	2	4	1	3	1	1	4	4	4	4	2	0	1	2	2	0	1	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr1:214818975C>A	ENST00000366955.3	+	13	6230	c.6062C>A	c.(6061-6063)tCt>tAt	p.S2021Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2117					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.S2021C(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)		ACTTTGTCCTCTGATGTGAGT	0.458																																					Colon(80;575 1284 11000 14801 43496)												1	Substitution - Missense(1)	lung(1)											77	76	76					1																	214818975		2203	4300	6503	SO:0001583	missense	0			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.6062C>A	1.37:g.214818975C>A	ENSP00000355922:p.Ser2021Tyr		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.S2021Y	ENST00000366955.3	37	c.6062	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512973	0.27123	.	.	ENSG00000117724	ENST00000366955	T	0.45668	0.89	5.2	4.27	0.50696	.	0.207947	0.24396	N	0.038892	T	0.47021	0.1423	L	0.53249	1.67	0.23180	N	0.998162	P	0.50272	0.933	P	0.49012	0.598	T	0.40739	-0.9547	10	0.56958	D	0.05	.	12.8372	0.57780	0.0:0.92:0.0:0.08	.	2117	P49454	CENPF_HUMAN	Y	2021	ENSP00000355922:S2021Y	ENSP00000355922:S2021Y	S	+	2	0	CENPF	212885598	0.107000	0.21998	0.818000	0.32626	0.709000	0.40893	0.466000	0.22019	1.163000	0.42636	0.603000	0.83216	TCT	CENPF	-	NULL	ENSG00000117724		0.458	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1		0	46	0	C	NM_016343		214818975	1			no_errors	ENST00000366955	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.770	A	A	214818975	C	A	214818975	3	1	161	1	0	0	0	0	1	0	0	0	3238	913	32	3	6108	3	CENPF	1	214818975	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	1637415	214818975	34431646	10	40928											
NVL	4931	genome.wustl.edu	37	chr1	224492452	224492452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaacttttaatgtcatatCattgcctcccacatcttcaa	12	15	2	12	0	4	0	3	0	1	0	5	0	5	0	2	0	2	0	2	0	4	6			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr1:224492452C>A	ENST00000281701.6	-	8	1070	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	NVL_ENST00000482491.1_5'UTR|NVL_ENST00000361463.3_Missense_Mutation_p.D165Y|NVL_ENST00000340871.4_Missense_Mutation_p.D55Y|NVL_ENST00000391875.2_Missense_Mutation_p.D165Y|NVL_ENST00000469075.1_Missense_Mutation_p.D180Y|RNU6-1008P_ENST00000384160.1_RNA	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	271						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)		AATGTCATATCATTGCCTCCC	0.343																																																	0													141	146	144					1																	224492452		2203	4300	6503	SO:0001583	missense	0			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.811G>T	1.37:g.224492452C>A	ENSP00000281701:p.Asp271Tyr		B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D271Y	ENST00000281701.6	37	c.811	CCDS1541.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.416510|4.416510	0.83449|0.83449	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000340871;ENST00000361463;ENST00000492281;ENST00000488718;ENST00000436927|ENST00000469968	T;T;T;T;T|.	0.80653|.	-1.4;-1.4;-1.4;-1.4;-1.4|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.099053|.	0.64402|.	D|.	0.000002|.	D|.	0.86598|.	0.5971|.	M|M	0.93550|0.93550	3.43|3.43	0.80722|0.80722	D|D	1|1	P;D;D|.	0.71674|.	0.913;0.984;0.998|.	P;P;D|.	0.67231|.	0.635;0.753;0.95|.	D|.	0.90044|.	0.4144|.	10|.	0.72032|.	D|.	0.01|.	-20.9635|-20.9635	17.2423|17.2423	0.87016|0.87016	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	55;180;271|.	B4DMC4;B4DP98;O15381|.	.;.;NVL_HUMAN|.	Y|L	271;165;180;55;165;176;180;167|153	ENSP00000281701:D271Y;ENSP00000375747:D165Y;ENSP00000417826:D180Y;ENSP00000341362:D55Y;ENSP00000354779:D165Y|.	ENSP00000281701:D271Y|.	D|X	-|-	1|2	0|2	NVL|NVL	222559075|222559075	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.879000|0.879000	0.50718|0.50718	6.437000|6.437000	0.73421|0.73421	2.500000|2.500000	0.84329|0.84329	0.655000|0.655000	0.94253|0.94253	GAT|TGA	NVL	-	superfamily_P-loop_NTPase	ENSG00000143748		0.343	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NVL	HGNC	protein_coding	OTTHUMT00000091453.2		0	60	0	C	NM_002533		224492452	-1			no_errors	ENST00000281701	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	224492452	C	A	224492452	3	1	161	1	0	0	0	0	1	0	0	0	10819	826	29	3	1823	3	NVL	1	224492452	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	9673477	224492452	24758169	11	40929											
PSME4	23198	genome.wustl.edu	37	chr2	54148193	54148193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttctttggagaatctttaCaagctgctccctataaagaa	12	13	8	8	0	2	2	0	0	2	2	3	3	3	2	1	2	3	3	1	2	7	6	rs565841263	byFrequency	TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr2:54148193C>A	ENST00000404125.1	-	18	2150	c.2095G>T	c.(2095-2097)Gta>Tta	p.V699L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	699					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAATCTTTACAAGCTGCTCC	0.378																																																	0													116	121	120					2																	54148193		2203	4300	6503	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2095G>T	2.37:g.54148193C>A	ENSP00000384211:p.Val699Leu		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.V699L	ENST00000404125.1	37	c.2095	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	C	9.667	1.145708	0.21288	.	.	ENSG00000068878	ENST00000404125	T	0.03580	3.88	5.38	4.47	0.54385	.	0.187955	0.45361	D	0.000377	T	0.02418	0.0074	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.30765	-0.9967	10	0.02654	T	1	-0.1047	9.1051	0.36692	0.1438:0.777:0.0:0.0793	.	74;699	Q14997-2;Q14997	.;PSME4_HUMAN	L	699	ENSP00000384211:V699L	ENSP00000384211:V699L	V	-	1	0	PSME4	54001697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.673000	0.37534	1.222000	0.43521	0.644000	0.83932	GTA	PSME4	-	superfamily_ARM-type_fold	ENSG00000068878		0.378	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1		0	98	0	C	XM_040158		54148193	-1			no_errors	ENST00000404125	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	A	A	54148193	C	A	54148193	3	1	161	1	0	0	0	0	1	0	0	0	12751	478	17	3	3552	3	PSME4	2	54148193	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09		54148193	189051180	12	40930											
TMEM131	23505	genome.wustl.edu	37	chr2	98435156	98435156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttaaagtgtaccgttataGcatcattttgtggtgtaggt	9	17	11	4	1	1	0	1	0	0	0	1	0	1	0	1	2	2	5	1	2	6	8			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr2:98435156G>T	ENST00000186436.5	-	12	1331	c.1103C>A	c.(1102-1104)gCt>gAt	p.A368D	TMEM131_ENST00000425805.2_Intron	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	368						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TACCGTTATAGCATCATTTTG	0.343																																																	0													176	157	163					2																	98435156		1855	4101	5956	SO:0001583	missense	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1103C>A	2.37:g.98435156G>T	ENSP00000186436:p.Ala368Asp			Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.A368D	ENST00000186436.5	37	c.1103	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.156176	0.94686	.	.	ENSG00000075568	ENST00000186436	T	0.35973	1.28	5.93	5.93	0.95920	PapD-like (1);	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	L	0.52364	1.645	0.80722	D	1	P	0.52577	0.954	P	0.51135	0.66	T	0.09271	-1.0682	10	0.28530	T	0.3	-15.2637	20.3539	0.98825	0.0:0.0:1.0:0.0	.	368	Q92545	TM131_HUMAN	D	368	ENSP00000186436:A368D	ENSP00000186436:A368D	A	-	2	0	TMEM131	97801588	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	9.452000	0.97615	2.826000	0.97356	0.655000	0.94253	GCT	TMEM131	-	NULL	ENSG00000075568		0.343	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	-	0	66	0	G	XM_371542		98435156	-1	tier1	-	no_errors	ENST00000186436	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	98435156	G	T	98435156	3	4	161	1	0	0	0	0	1	0	0	0	16091	971	34	3	4668	3	TMEM131	2	98435156	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	44286963	98435156	144764217	13	40931											
TANC1	85461	genome.wustl.edu	37	chr2	160027186	160027186	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacacagaactggcagaaaaCagaggcgcggtggtggttgg	13	5	16	7	2	0	3	0	0	0	3	0	3	0	3	0	6	3	2	0	6	4	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr2:160027186C>T	ENST00000263635.6	+	10	1458	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N	TANC1_ENST00000454300.1_Silent_p.N301N	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	407					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						TGGCAGAAAACAGAGGCGCGG	0.502																																																	0													103	115	111					2																	160027186		1906	4111	6017	SO:0001819	synonymous_variant	0			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.1221C>T	2.37:g.160027186C>T			C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.N407	ENST00000263635.6	37	c.1221	CCDS42766.1	2																																																																																			TANC1	-	superfamily_P-loop_NTPase	ENSG00000115183		0.502	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	-	0	97	0	C			160027186	1	tier1	-	no_errors	ENST00000263635	ensembl	human	known	74_37	silent	46.27	36	31	SNP	0.452	T	T	160027186	C	T	160027186	2	4	161	1	0	0	0	0	0	0	0	1	15591	477	17	3		3	TANC1	2	160027186	Silent	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	61592030	160027186	83172187	14	40932											
HOXD10	3236	genome.wustl.edu	37	chr2	176983939	176983939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggatccgagaactgaccGccaacctcacgttttcttag	10	9	8	14	4	2	2	1	1	1	1	3	4	3	3	5	1	2	1	5	1	3	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr2:176983939G>T	ENST00000249501.4	+	2	1258	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	HOXD10_ENST00000490088.2_3'UTR|HOXD-AS2_ENST00000440016.2_RNA	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	335					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)		AGAACTGACCGCCAACCTCAC	0.577																																																	0													34	36	35					2																	176983939		2203	4299	6502	SO:0001583	missense	0				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.1003G>T	2.37:g.176983939G>T	ENSP00000249501:p.Ala335Ser		Q6NT10	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.A335S	ENST00000249501.4	37	c.1003	CCDS2266.1	2	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052845	0.19907	.	.	ENSG00000128710	ENST00000249501	D	0.93659	-3.26	5.94	5.94	0.96194	.	0.053033	0.85682	D	0.000000	D	0.86674	0.5989	N	0.11870	0.19	0.50632	D	0.999888	B	0.23377	0.084	B	0.18871	0.023	T	0.82094	-0.0627	10	0.11794	T	0.64	.	19.9695	0.97278	0.0:0.0:1.0:0.0	.	335	P28358	HXD10_HUMAN	S	335	ENSP00000249501:A335S	ENSP00000249501:A335S	A	+	1	0	HOXD10	176692185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.348000	0.79366	2.816000	0.96949	0.561000	0.74099	GCC	HOXD10	-	NULL	ENSG00000128710		0.577	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD10	HGNC	protein_coding	OTTHUMT00000255692.2		0	81	0	G			176983939	1			no_errors	ENST00000249501	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	176983939	G	T	176983939	3	4	161	1	0	0	0	0	1	0	0	0	7346	1087	38	2	1009	2	HOXD10	2	176983939	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	16956753	176983939	66215434	15	40933											
TTN	7273	genome.wustl.edu	37	chr2	179425882	179425882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcattccttgcaaaaaccCggaattcataacgctgatct	13	10	6	12	2	2	1	1	1	1	0	3	2	3	2	2	1	4	3	2	1	4	4	rs200843338		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr2:179425882C>T	ENST00000591111.1	-	276	80278	c.80054G>A	c.(80053-80055)cGg>cAg	p.R26685Q	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R28326Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R19453Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19261Q|TTN_ENST00000359218.5_Missense_Mutation_p.R19386Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25758Q			Q8WZ42	TITIN_HUMAN	titin	26685	Fibronectin type-III 94. {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)			TGCAAAAACCCGGAATTCATA	0.408													C|||	1	0.000199681	0	0.0014	5008	,	,		22320	0		0	False		,,,				2504	0																0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3798		0,0,1899	87	84	85		57782,77273,58157,58358	5.8	1	2		85	2,8218		0,2,4108	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,2,6007	TT,TC,CC		0.0243,0.0,0.0166	probably-damaging,probably-damaging,probably-damaging,probably-damaging	19261/26927,25758/33424,19386/27052,19453/27119	179425882	2,12016	1899	4110	6009	SO:0001583	missense	0			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.80054G>A	2.37:g.179425882C>T	ENSP00000465570:p.Arg26685Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R25758Q	ENST00000591111.1	37	c.77273		2	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304938	0.40795	0.0	2.43E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.84	5.84	0.93424	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74854	0.3771	M	0.85041	2.73	0.51767	D	0.999939	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	P;P;P;P	0.57371	0.819;0.819;0.819;0.819	T	0.78966	-0.1995	9	0.87932	D	0	.	15.2425	0.73482	0.0:0.9313:0.0:0.0687	.	19261;19386;19453;26685	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	25758;19261;19453;19386;19259	ENSP00000343764:R25758Q;ENSP00000434586:R19261Q;ENSP00000340554:R19453Q;ENSP00000352154:R19386Q	ENSP00000340554:R19453Q	R	-	2	0	TTN	179134128	0.370000	0.25047	0.995000	0.50966	0.995000	0.86356	0.887000	0.28254	2.767000	0.95098	0.561000	0.74099	CGG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	37	0	C	NM_133378		179425882	-1	tier1	rs200843338	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	58.62	12	17	SNP	0.997	T	T	179425882	C	T	179425882	3	4	161	1	0	0	0	0	1	0	0	0	16784	652	23	1	23150	1	TTN	2	179425882	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	2441943	179425882	63773491	16	40934											
WDR75	84128	genome.wustl.edu	37	chr2	190320168	190320168	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcattgcctttggaaacGaggtaaattttgttttgttc	9	17	10	5	1	0	0	0	0	0	0	1	2	0	1	1	2	3	4	1	2	3	8	rs142864260	byFrequency	TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr2:190320168G>T	ENST00000314761.4	+	5	556	c.496G>T	c.(496-498)Gag>Tag	p.E166*		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	166						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			CTTTGGAAACGAGGTAAATTT	0.378																																																	0													171	169	170					2																	190320168		2203	4300	6503	SO:0001587	stop_gained	0			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.496G>T	2.37:g.190320168G>T	ENSP00000314193:p.Glu166*		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E166*	ENST00000314761.4	37	c.496	CCDS2298.1	2	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396719	0.62177	.	.	ENSG00000115368	ENST00000314761	.	.	.	5.03	1.04	0.20106	.	0.446577	0.27429	N	0.019411	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-2.2501	5.8215	0.18530	0.2129:0.2487:0.5384:0.0	.	.	.	.	X	166	.	ENSP00000314193:E166X	E	+	1	0	WDR75	190028413	1.000000	0.71417	0.881000	0.34555	0.681000	0.39784	2.885000	0.48570	-0.005000	0.14395	0.585000	0.79938	GAG	WDR75	-	superfamily_WD40_repeat_dom	ENSG00000115368		0.378	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	HGNC	protein_coding	OTTHUMT00000255913.1	-	0	135	0	G	NM_032168		190320168	1	tier1	-	no_errors	ENST00000314761	ensembl	human	known	74_37	nonsense	16.56	136	27	SNP	1.000	T	T	190320168	G	T	190320168	4	4	161	1	0	0	0	0	0	1	0	0	17374	1059	37	2	514	2	WDR75	2	190320168	Nonsense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	10894286	190320168	52879205	17	40935											
KIAA1407	57577	genome.wustl.edu	37	chr3	113697175	113697175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	ttcttcctgcagatcaatcaCgtactggggatgaagacaga	12	10	10	9	1	3	4	2	1	1	3	4	5	4	5	1	2	2	2	1	2	3	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr3:113697175C>A	ENST00000295878.3	-	16	2610	c.2464G>T	c.(2464-2466)Gtg>Ttg	p.V822L	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	822										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGATCAATCACGTACTGGGGA	0.353																																																	0													57	57	57					3																	113697175		2203	4300	6503	SO:0001583	missense	0			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.2464G>T	3.37:g.113697175C>A	ENSP00000295878:p.Val822Leu		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.V822L	ENST00000295878.3	37	c.2464	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361727	0.01235	.	.	ENSG00000163617	ENST00000295878	T	0.32753	1.44	4.31	-7.5	0.01351	.	1.842820	0.02270	N	0.068417	T	0.08044	0.0201	N	0.02674	-0.535	0.21579	N	0.999639	B	0.02656	0.0	B	0.04013	0.001	T	0.25606	-1.0127	10	0.02654	T	1	.	2.0642	0.03599	0.1514:0.3411:0.1426:0.365	.	822	Q8NCU4	K1407_HUMAN	L	822	ENSP00000295878:V822L	ENSP00000295878:V822L	V	-	1	0	KIAA1407	115179865	0.053000	0.20554	0.001000	0.08648	0.017000	0.09413	-0.460000	0.06720	-1.366000	0.02155	-1.910000	0.00522	GTG	KIAA1407	-	NULL	ENSG00000163617		0.353	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	-	0	49	0	C	NM_020817		113697175	-1	tier1	-	no_errors	ENST00000295878	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.000	A	A	113697175	C	A	113697175	3	1	161	1	0	0	0	0	1	0	0	0	8256	536	19	2	354	2	KIAA1407	3	113697175	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09		113697175	84325255	18	40936											
FAIM	55179	genome.wustl.edu	37	chr3	138329850	138329850	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttgtgctataatcatctCttggtatctccggactctgc	6	16	8	11	1	4	0	1	0	3	0	6	1	4	1	1	2	2	3	1	2	3	5			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr3:138329850C>T	ENST00000393035.2	+	1	87				FAIM_ENST00000360570.3_Intron|FAIM_ENST00000393034.2_Intron|FAIM_ENST00000338446.4_Silent_p.L17L	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						ATAATCATCTCTTGGTATCTC	0.478																																																	0													223	214	217					3																	138329850		2203	4300	6503	SO:0001627	intron_variant	0			AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.-23+2071C>T	3.37:g.138329850C>T			Q6IAN2	Silent	SNP	pfam_FAIM	p.L17	ENST00000393035.2	37	c.51	CCDS3103.1	3																																																																																			FAIM	-	NULL	ENSG00000158234		0.478	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAIM	HGNC	protein_coding	OTTHUMT00000357979.1	-	0	54	0	C	NM_001033032		138329850	1	tier1	-	no_errors	ENST00000338446	ensembl	human	known	74_37	silent	35.56	29	16	SNP	0.000	T	T	138329850	C	T	138329850	1	4	161	0	1	0	0	0	0	0	0	0	5394	900	32	3		3	FAIM	3	138329850	Intron	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	24632675	138329850	59692580	19	40937											
FAM194A	131831	genome.wustl.edu	37	chr3	150396294	150396294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaattatctgtttttctgGaatatccacagaaagttgat	13	16	6	6	0	3	2	1	1	2	1	4	3	4	3	1	1	0	2	1	1	5	5			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr3:150396294G>T	ENST00000295910.6	-	10	1211	c.1159C>A	c.(1159-1161)Cca>Aca	p.P387T	FAM194A_ENST00000491361.1_Missense_Mutation_p.P241T	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGTTTTTCTGGAATATCCACA	0.294																																																	0													66	63	64					3																	150396294		2201	4292	6493	SO:0001583	missense	0																														ENST00000295910.6:c.1159C>A	3.37:g.150396294G>T	ENSP00000295910:p.Pro387Thr			Missense_Mutation	SNP	NULL	p.P387T	ENST00000295910.6	37	c.1159	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400856	0.25291	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.15256	2.66;2.44	3.85	2.88	0.33553	.	0.461248	0.17976	N	0.155706	T	0.16300	0.0392	L	0.45581	1.43	0.09310	N	1	B	0.28998	0.23	B	0.31101	0.124	T	0.15263	-1.0443	10	0.62326	D	0.03	-4.5609	10.2271	0.43231	0.0:0.0:0.802:0.1979	.	387	Q7L0X2	F194A_HUMAN	T	387;241;345	ENSP00000295910:P387T;ENSP00000419366:P241T	ENSP00000295910:P387T	P	-	1	0	FAM194A	151878984	0.024000	0.19004	0.044000	0.18714	0.286000	0.27126	1.960000	0.40422	2.130000	0.65690	0.557000	0.71058	CCA	FAM194A	-	NULL	ENSG00000163645		0.294	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	-	0	60	0	G			150396294	-1	tier1	-	no_errors	ENST00000295910	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.008	T	T	150396294	G	T	150396294	3	4	161	1	0	0	0	0	1	0	0	0	5545	1174	41	3	852	3	FAM194A	3	150396294	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	12066444	150396294	47626136	20	40938											
ABCF3	55324	genome.wustl.edu	37	chr3	183910411	183910411	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagagaatggggctgggaAgtctaccatgctgaagctgc	10	8	16	7	0	1	2	0	1	1	1	1	5	1	4	1	4	4	3	1	4	4	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr3:183910411A>G	ENST00000429586.2	+	17	1777	c.1592A>G	c.(1591-1593)aAg>aGg	p.K531R	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.K525R	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	531	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGCTGGGAAGTCTACCATG	0.517																																																	0													54	51	52					3																	183910411		2203	4300	6503	SO:0001583	missense	0			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1592A>G	3.37:g.183910411A>G	ENSP00000411471:p.Lys531Arg		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K531R	ENST00000429586.2	37	c.1592	CCDS3254.1	3	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159692	0.78226	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.98044	-4.68;-4.68	5.41	5.41	0.78517	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.045636	0.85682	D	0.000000	D	0.99269	0.9745	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98645	1.0677	10	0.87932	D	0	-21.8234	14.6933	0.69101	1.0:0.0:0.0:0.0	.	525;531	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	R	531;525	ENSP00000411471:K531R;ENSP00000292808:K525R	ENSP00000292808:K525R	K	+	2	0	ABCF3	185393105	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	8.962000	0.93254	2.056000	0.61249	0.529000	0.55759	AAG	ABCF3	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000161204		0.517	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF3	HGNC	protein_coding	OTTHUMT00000346047.1	-	0	46	0	A	NM_018358		183910411	1	tier1	-	no_errors	ENST00000429586	ensembl	human	known	74_37	missense	25.42	44	15	SNP	1.000	G	G	183910411	A	G	183910411	3	3	161	1	0	0	0	0	1	0	0	0	67	72	3	4	1658	4	ABCF3	3	183910411	Missense_Mutation	SNP	A	TCGA-VR-A8EO-01A-11D-A36J-09	33514117	183910411	14112019	21	40939											
OSTalpha	200931	genome.wustl.edu	37	chr3	195956804	195956804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatttctgaggggagcacaGctctatggatcaacactttc	11	11	10	9	0	3	2	1	1	2	1	4	4	3	4	0	3	3	2	0	3	2	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr3:195956804G>T	ENST00000296327.5	+	7	861	c.652G>T	c.(652-654)Gct>Tct	p.A218S	PCYT1A_ENST00000419333.1_3'UTR	NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	218					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	GGGGAGCACAGCTCTATGGAT	0.532																																																	0													120	108	112					3																	195956804		2203	4300	6503	SO:0001583	missense	0				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.652G>T	3.37:g.195956804G>T	ENSP00000296327:p.Ala218Ser		Q6ZMC7	Missense_Mutation	SNP	pfam_Ost-alpha	p.A218S	ENST00000296327.5	37	c.652	CCDS3314.1	3	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231630	0.58777	.	.	ENSG00000163959	ENST00000296327	T	0.40756	1.02	5.85	5.85	0.93711	.	0.000000	0.49305	D	0.000146	T	0.67730	0.2924	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.66416	-0.5929	10	0.42905	T	0.14	-18.4061	19.1459	0.93467	0.0:0.0:1.0:0.0	.	218	Q86UW1	OSTA_HUMAN	S	218	ENSP00000296327:A218S	ENSP00000296327:A218S	A	+	1	0	AC069257.9	197441201	1.000000	0.71417	0.994000	0.49952	0.020000	0.10135	4.078000	0.57606	2.767000	0.95098	0.655000	0.94253	GCT	SLC51A	-	pfam_Ost-alpha	ENSG00000163959		0.532	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC51A	HGNC	protein_coding	OTTHUMT00000341253.1		0	26	0	G	NM_152672		195956804	1			no_errors	ENST00000296327	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	195956804	G	T	195956804	3	4	161	1	0	0	0	0	1	0	0	0	11339	971	34	3	678	3	OSTalpha	3	195956804	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	12046393	195956804	2065626	22	40940											
ZBTB49	166793	genome.wustl.edu	37	chr4	4317368	4317368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaattacattctaggtttgCagcctctggcgacgtccagc	9	11	9	12	2	2	0	0	0	2	0	3	1	3	0	2	2	4	2	2	2	3	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr4:4317368C>T	ENST00000337872.4	+	6	1503	c.1382C>T	c.(1381-1383)gCa>gTa	p.A461V	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TCTAGGTTTGCAGCCTCTGGC	0.438																																																	0													83	84	84					4																	4317368		2203	4300	6503	SO:0001583	missense	0			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.1382C>T	4.37:g.4317368C>T	ENSP00000338807:p.Ala461Val		Q59FJ4|Q5EBN0|Q8TB80	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q421*	ENST00000337872.4	37	c.1261	CCDS3375.1	4	.	.	.	.	.	.	.	.	.	.	C	39	7.335166	0.98221	.	.	ENSG00000168826	ENST00000337872	T	0.04156	3.69	5.45	5.45	0.79879	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000026	T	0.07369	0.0186	N	0.05158	-0.105	0.80722	D	1	P	0.44090	0.826	P	0.53861	0.736	T	0.54761	-0.8245	10	0.44086	T	0.13	.	19.2829	0.94058	0.0:1.0:0.0:0.0	.	461	Q6ZSB9	ZBT49_HUMAN	V	461	ENSP00000338807:A461V	ENSP00000338807:A461V	A	+	2	0	ZBTB49	4368269	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.085000	0.76875	2.572000	0.86782	0.462000	0.41574	GCA	ZBTB49	-	pfscan_Znf_C2H2	ENSG00000168826		0.438	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB49	HGNC	protein_coding	OTTHUMT00000206688.3	-	0	51	0	C	NM_145291		4317368	1	tier1	-	no_errors	ENST00000515012	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	1.000	T	T	4317368	C	T	4317368	3	4	161	1	0	0	0	0	1	0	0	0	17598	710	25	3	1400	3	ZBTB49	4	4317368	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09		4317368	186836908	23	40941											
LGI2	55203	genome.wustl.edu	37	chr4	25005844	25005844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgggctaccaccacaaaGacctgatcatcgatgagaat	14	7	9	11	1	1	3	1	2	0	2	2	5	1	3	3	1	2	2	3	1	3	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr4:25005844G>A	ENST00000382114.4	-	8	1052	c.867C>T	c.(865-867)gtC>gtT	p.V289V		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	289						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)				CCACCACAAAGACCTGATCAT	0.463																																																	0													162	163	163					4																	25005844		2203	4300	6503	SO:0001819	synonymous_variant	0			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.867C>T	4.37:g.25005844G>A			Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.V289	ENST00000382114.4	37	c.867	CCDS3431.1	4																																																																																			LGI2	-	pfam_EPTP	ENSG00000153012		0.463	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1		0	27	0	G			25005844	-1			no_errors	ENST00000382114	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.997	A	A	25005844	G	A	25005844	2	1	161	1	0	0	0	0	0	0	0	1	8781	929	33	3		3	LGI2	4	25005844	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	20688476	25005844	166148432	24	40942											
SLC30A9	10463	genome.wustl.edu	37	chr4	42024887	42024887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcgaaaaatcagacgacGaagtccccatgaagatactg	16	7	8	10	3	1	3	1	1	0	2	3	6	2	3	2	0	1	0	2	0	5	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr4:42024887G>T	ENST00000264451.7	+	5	647	c.467G>T	c.(466-468)cGa>cTa	p.R156L		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	156					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCAGACGACGAAGTCCCCAT	0.328																																																	0													87	93	91					4																	42024887		2203	4299	6502	SO:0001583	missense	0			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.467G>T	4.37:g.42024887G>T	ENSP00000264451:p.Arg156Leu		Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux	p.R156L	ENST00000264451.7	37	c.467	CCDS3465.1	4	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887162	0.91814	.	.	ENSG00000014824	ENST00000264451	T	0.56275	0.47	5.72	4.88	0.63580	DNA binding domain, putative (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75199	-0.3402	10	0.87932	D	0	-12.3593	14.8238	0.70094	0.0692:0.0:0.9308:0.0	.	156	Q6PML9	ZNT9_HUMAN	L	156	ENSP00000264451:R156L	ENSP00000264451:R156L	R	+	2	0	SLC30A9	41719644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.291000	0.96070	1.425000	0.47237	0.555000	0.69702	CGA	SLC30A9	-	superfamily_DNA-bd_dom_put	ENSG00000014824		0.328	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A9	HGNC	protein_coding	OTTHUMT00000216842.3		0	27	0	G			42024887	1			no_errors	ENST00000264451	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	42024887	G	T	42024887	3	4	161	1	0	0	0	0	1	0	0	0	14607	1058	37	2	485	2	SLC30A9	4	42024887	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	17019043	42024887	149129389	25	40943											
RCHY1	25898	genome.wustl.edu	37	chr4	76407873	76407873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattacagtcattgcagaGaatctgaaaagagattaatt	16	12	7	6	0	2	3	1	1	1	2	3	5	3	3	1	0	2	1	1	0	5	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr4:76407873G>T	ENST00000324439.5	-	9	1059	c.661C>A	c.(661-663)Ctc>Atc	p.L221I	RCHY1_ENST00000380840.2_Missense_Mutation_p.L181I|RCHY1_ENST00000513257.1_Missense_Mutation_p.L212I|RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000512706.1_Missense_Mutation_p.L199I	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	221					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)	p.L221I(1)		large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCATTGCAGAGAATCTGAAAA	0.318																																																	1	Substitution - Missense(1)	large_intestine(1)											69	68	68					4																	76407873		2203	4300	6503	SO:0001583	missense	0			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.661C>A	4.37:g.76407873G>T	ENSP00000321239:p.Leu221Ile		B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L221I	ENST00000324439.5	37	c.661	CCDS3567.1	4	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705042	0.48412	.	.	ENSG00000163743	ENST00000324439;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	T;T;T	0.33216	1.42;1.43;1.42	5.87	5.87	0.94306	Rubredoxin-type Fe(Cys)4 protein (1);	0.165279	0.53938	D	0.000057	T	0.36026	0.0952	M	0.70787	2.145	0.80722	D	1	B;B;B;B	0.30870	0.208;0.051;0.208;0.298	B;B;B;B	0.25759	0.028;0.012;0.028;0.063	T	0.11767	-1.0574	10	0.46703	T	0.11	-15.3632	17.7183	0.88344	0.0:0.0:1.0:0.0	.	172;199;212;221	E7EMC8;E7ETW5;Q96PM5-2;Q96PM5	.;.;.;ZN363_HUMAN	I	221;181;199;212;172	ENSP00000321239:L221I;ENSP00000370220:L181I;ENSP00000423976:L199I	ENSP00000321239:L221I	L	-	1	0	RCHY1	76626897	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.757000	0.62213	2.770000	0.95276	0.650000	0.86243	CTC	RCHY1	-	NULL	ENSG00000163743		0.318	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCHY1	HGNC	protein_coding	OTTHUMT00000252411.2		0	49	0	G	NM_015436		76407873	-1			no_errors	ENST00000324439	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	76407873	G	T	76407873	3	4	161	1	0	0	0	0	1	0	0	0	13222	942	33	3	128	3	RCHY1	4	76407873	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	34382986	76407873	114746403	26	40944											
SEC24B	10427	genome.wustl.edu	37	chr4	110427668	110427668	+	Splice_Site	SNP	A	A	T	1	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	aaaattaaactgtagcccagAgtaggtatttatttatttta	15	16	6	4	0	0	1	0	0	0	1	0	1	0	1	1	1	2	3	1	1	10	10			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr4:110427668A>T	ENST00000265175.5	+	7	1728	c.1673A>T	c.(1672-1674)gAt>gTt	p.D558V	SEC24B_ENST00000399100.2_Splice_Site_p.D523V|SEC24B_ENST00000504968.2_Splice_Site_p.D588V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	558					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)		TGTAGCCCAGAGTAGGTATTT	0.323																																																	0													87	84	85					4																	110427668		1795	4058	5853	SO:0001630	splice_region_variant	0			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.1673+1A>T	4.37:g.110427668A>T			B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.D558V	ENST00000265175.5	37	c.1673	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	A	26.4	4.738522	0.89573	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.25250	1.81;1.81;1.81	5.67	5.67	0.87782	.	0.163366	0.56097	D	0.000039	T	0.49847	0.1581	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D	0.67145	0.993;0.96;0.993;0.996;0.984	P;P;P;P;P	0.62813	0.809;0.589;0.809;0.907;0.809	T	0.53351	-0.8451	10	0.66056	D	0.02	-19.5476	15.9206	0.79562	1.0:0.0:0.0:0.0	.	472;157;588;523;558	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	V	588;523;558	ENSP00000428564:D588V;ENSP00000382051:D523V;ENSP00000265175:D558V	ENSP00000265175:D558V	D	+	2	0	SEC24B	110647117	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.006000	0.93592	2.148000	0.66965	0.482000	0.46254	GAT	SEC24B	-	NULL	ENSG00000138802		0.323	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	-	0	63	0	A		Missense_Mutation	110427668	1	tier1	-	no_errors	ENST00000265175	ensembl	human	known	74_37	missense	73.08	21	57	SNP	1.000	T	T	110427668	A	T	110427668	5	4	161	1	0	0	0	0	0	0	1	0	14040	318	11	5	1699	5	SEC24B	4	110427668	Splice_Site	SNP	A	TCGA-VR-A8EO-01A-11D-A36J-09	34019795	110427668	80726608	27	40945											
C4orf21	55345	genome.wustl.edu	37	chr4	113461239	113461239	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacacctgcacagttttaatAtcaggatggtgaaagtccac	13	10	9	9	0	1	1	1	1	0	0	2	3	2	2	2	2	1	2	2	2	3	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr4:113461239A>T	ENST00000505019.1	-	27	6077	c.5952T>A	c.(5950-5952)gaT>gaA	p.D1984E	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1984						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CAGTTTTAATATCAGGATGGT	0.403																																																	0													42	40	40					4																	113461239		2202	4298	6500	SO:0001583	missense	0																														ENST00000505019.1:c.5952T>A	4.37:g.113461239A>T	ENSP00000424737:p.Asp1984Glu		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.D1984E	ENST00000505019.1	37	c.5952		4	.	.	.	.	.	.	.	.	.	.	A	13.27	2.186316	0.38609	.	.	ENSG00000138658	ENST00000505019	D	0.82081	-1.57	5.32	-6.53	0.01866	.	2.146690	0.01530	N	0.018761	T	0.67924	0.2945	L	0.31157	0.91	0.09310	N	1	B;B	0.19583	0.037;0.009	B;B	0.17433	0.017;0.018	T	0.53450	-0.8437	10	0.20519	T	0.43	-0.0723	2.9241	0.05778	0.3204:0.0908:0.3814:0.2073	.	1984;442	G5EA02;B3KQX2	.;.	E	1984	ENSP00000424737:D1984E	ENSP00000424737:D1984E	D	-	3	2	C4orf21	113680688	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-1.536000	0.02208	-1.148000	0.02847	0.459000	0.35465	GAT	C4orf21	-	superfamily_P-loop_NTPase	ENSG00000138658		0.403	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	-	0	17	0	A			113461239	-1	tier1	-	no_errors	ENST00000505019	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.000	T	T	113461239	A	T	113461239	3	4	161	1	0	0	0	0	1	0	0	0	2261	446	16	5	370	5	C4orf21	4	113461239	Missense_Mutation	SNP	A	TCGA-VR-A8EO-01A-11D-A36J-09	3033571	113461239	77693037	28	40946											
FAT4	79633	genome.wustl.edu	37	chr4	126400925	126400925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggaaggcgcttgtactcGcagcccatgccaacatggtg	8	8	13	12	2	0	0	0	0	0	0	1	1	0	1	2	3	4	4	2	3	3	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr4:126400925G>A	ENST00000394329.3	+	14	12516	c.12503G>A	c.(12502-12504)cGc>cAc	p.R4168H	FAT4_ENST00000335110.5_Intron	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4168	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	p.R4168H(1)		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						GCTTGTACTCGCAGCCCATGC	0.423																																																	1	Substitution - Missense(1)	endometrium(1)											76	69	71					4																	126400925		1568	3582	5150	SO:0001583	missense	0			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.12503G>A	4.37:g.126400925G>A	ENSP00000377862:p.Arg4168His		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R4168H	ENST00000394329.3	37	c.12503	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	7.929	0.740301	0.15642	.	.	ENSG00000196159	ENST00000394329	T	0.73789	-0.78	5.06	0.548	0.17208	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.265750	0.06148	N	0.673647	T	0.52837	0.1759	N	0.16066	0.365	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.37244	-0.9714	10	0.39692	T	0.17	.	0.7234	0.00944	0.4197:0.1377:0.2063:0.2363	.	4168;4168	Q6V0I7;Q6V0I7-3	FAT4_HUMAN;.	H	4168	ENSP00000377862:R4168H	ENSP00000377862:R4168H	R	+	2	0	FAT4	126620375	0.001000	0.12720	0.232000	0.24009	0.304000	0.27724	0.188000	0.17018	0.147000	0.19030	-0.237000	0.12165	CGC	FAT4	-	superfamily_ConA-like_lec_gl_sf,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000196159		0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0	67	0	G	NM_024582		126400925	1			no_errors	ENST00000394329	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.002	A	A	126400925	G	A	126400925	3	1	161	1	0	0	0	0	1	0	0	0	5714	1087	38	1	12557	1	FAT4	4	126400925	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	12939686	126400925	64753351	29	40947											
MLF1IP	79682	genome.wustl.edu	37	chr4	185631239	185631239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttactgatgctctaggtGggttttctcaaattcaggca	9	14	10	8	0	3	1	2	1	2	0	4	2	3	1	0	3	2	3	0	3	3	5			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr4:185631239G>T	ENST00000281453.5	-	8	854	c.784C>A	c.(784-786)Cac>Aac	p.H262N	MLF1IP_ENST00000541971.1_Missense_Mutation_p.H262N|MLF1IP_ENST00000506535.1_5'UTR	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		TGCTCTAGGTGGGTTTTCTCA	0.363																																																	0													131	118	123					4																	185631239		2203	4300	6503	SO:0001583	missense	0																														ENST00000281453.5:c.784C>A	4.37:g.185631239G>T	ENSP00000281453:p.His262Asn			Missense_Mutation	SNP	NULL	p.H262N	ENST00000281453.5	37	c.784	CCDS3838.1	4	.	.	.	.	.	.	.	.	.	.	G	1.854	-0.464423	0.04476	.	.	ENSG00000151725	ENST00000281453;ENST00000541665;ENST00000541971	T;T	0.22134	1.97;1.97	4.24	-8.47	0.00939	.	1.533070	0.03686	N	0.246341	T	0.10723	0.0262	N	0.22421	0.69	0.09310	N	1	P;P	0.45768	0.716;0.866	B;B	0.38655	0.206;0.278	T	0.26677	-1.0096	10	0.36615	T	0.2	-31.7426	5.8052	0.18436	0.4442:0.0:0.1106:0.4452	.	262;262	Q09GN1;Q71F23	.;CENPU_HUMAN	N	262	ENSP00000281453:H262N;ENSP00000445862:H262N	ENSP00000281453:H262N	H	-	1	0	MLF1IP	185868233	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.304000	0.01134	-1.992000	0.00975	0.655000	0.94253	CAC	MLF1IP	-	NULL	ENSG00000151725		0.363	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLF1IP	HGNC	protein_coding	OTTHUMT00000360841.2	-	0	48	0	G			185631239	-1	tier1	-	no_errors	ENST00000281453	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.000	T	T	185631239	G	T	185631239	3	4	161	1	0	0	0	0	1	0	0	0	9653	1348	47	3	496	3	MLF1IP	4	185631239	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	59230314	185631239	5523037	30	40948											
CCNB1	891	genome.wustl.edu	37	chr5	68463111	68463111	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcgctccgagtcaccaggGtgagccgcttcggactgcga	6	7	15	13	5	1	1	1	1	0	0	3	4	2	2	3	3	2	2	3	3	0	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr5:68463111G>T	ENST00000256442.5	+	1	274		c.e1+1			NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AGTCACCAGGGTGAGCCGCTT	0.672																																																	0													60	59	59					5																	68463111		2203	4300	6503	SO:0001630	splice_region_variant	0			U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"G2/mitotic-specific cyclin B1"	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.21+1G>T	5.37:g.68463111G>T			A8K066|Q5TZP9	Splice_Site	SNP	-	e1+1	ENST00000256442.5	37	c.21+1	CCDS3997.1	5	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543663	0.65198	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000508407;ENST00000505500	.	.	.	5.27	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.76	0.57359	0.0:0.0:0.8353:0.1647	.	.	.	.	.	-1	.	.	.	+	.	.	CCNB1	68498867	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	3.674000	0.54598	1.335000	0.45486	0.555000	0.69702	.	CCNB1	-	-	ENSG00000134057		0.672	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB1	HGNC	protein_coding	OTTHUMT00000215084.1		0	45	0	G	NM_031966	Intron	68463111	1			no_errors	ENST00000256442	ensembl	human	known	74_37	splice_site	7.50	37	3	SNP	1.000	T	T	68463111	G	T	68463111	5	4	161	1	0	0	0	0	0	0	1	0	2918	1275	44	3	24	3	CCNB1	5	68463111	Splice_Site	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09		68463111	112452149	31	40949											
CMYA5	202333	genome.wustl.edu	37	chr5	79031681	79031681	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttctatttttaaggaaGagccaagaagtgatcaaaaa	18	12	7	4	0	2	3	1	1	1	2	2	4	2	4	1	1	1	0	1	1	8	6	rs368196442		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr5:79031681G>T	ENST00000446378.2	+	2	7124	c.7093G>T	c.(7093-7095)Gag>Tag	p.E2365*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2365					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)		TTTTAAGGAAGAGCCAAGAAG	0.378																																																	0													35	34	34					5																	79031681		1837	4102	5939	SO:0001587	stop_gained	0			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.7093G>T	5.37:g.79031681G>T	ENSP00000394770:p.Glu2365*		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E2365*	ENST00000446378.2	37	c.7093	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	45	11.606060	0.99582	.	.	ENSG00000164309	ENST00000446378	.	.	.	6.17	1.33	0.21861	.	0.348064	0.24757	N	0.035844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	5.4836	0.16737	0.2087:0.286:0.5053:0.0	.	.	.	.	X	2365	.	ENSP00000394770:E2365X	E	+	1	0	CMYA5	79067437	0.920000	0.31207	0.979000	0.43373	0.304000	0.27724	0.739000	0.26173	0.469000	0.27268	-0.878000	0.02970	GAG	CMYA5	-	NULL	ENSG00000164309		0.378	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1		0	65	0	G	NM_153610		79031681	1			no_errors	ENST00000446378	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	0.066	T	T	79031681	G	T	79031681	4	4	161	1	0	0	0	0	0	1	0	0	3597	943	33	3	7099	3	CMYA5	5	79031681	Nonsense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	10568570	79031681	101883579	32	40950											
FAM151B	167555	genome.wustl.edu	37	chr5	79817926	79817926	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtcaggcagtcttgttctCagttactttggctgttaaag	8	16	10	7	0	3	0	2	0	2	0	4	0	3	0	0	2	1	5	0	2	4	6			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr5:79817926C>T	ENST00000282226.4	+	5	795	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	214										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		GTCTTGTTCTCAGTTACTTTG	0.378																																																	0													163	144	151					5																	79817926		2203	4300	6503	SO:0001587	stop_gained	0				CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.640C>T	5.37:g.79817926C>T	ENSP00000282226:p.Gln214*		A2RRE4	Nonsense_Mutation	SNP	pfam_DUF2181	p.Q214*	ENST00000282226.4	37	c.640	CCDS4051.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.167524	0.94768	.	.	ENSG00000152380	ENST00000282226	.	.	.	5.77	2.85	0.33270	.	0.268095	0.43747	D	0.000537	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-10.8588	10.2337	0.43270	0.0:0.5455:0.3783:0.0763	.	.	.	.	X	214	.	ENSP00000282226:Q214X	Q	+	1	0	FAM151B	79853682	0.999000	0.42202	0.934000	0.37439	0.984000	0.73092	2.599000	0.46231	0.772000	0.33382	0.655000	0.94253	CAG	FAM151B	-	pfam_DUF2181	ENSG00000152380		0.378	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151B	HGNC	protein_coding	OTTHUMT00000254072.1		0	96	0	C	NM_205548		79817926	1			no_errors	ENST00000282226	ensembl	human	known	74_37	nonsense	8.33	33	3	SNP	0.941	T	T	79817926	C	T	79817926	4	4	161	1	0	0	0	0	0	1	0	0	5478	827	29	3	658	3	FAM151B	5	79817926	Nonsense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	786245	79817926	101097334	33	40951											
ANKRD32	84250	genome.wustl.edu	37	chr5	93990359	93990359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaagaattctatttttGctgaatatgccaaagaatca	17	13	6	5	0	2	4	1	2	1	2	2	4	2	4	1	0	2	1	1	0	8	5			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr5:93990359G>T	ENST00000265140.5	+	9	1476	c.1057G>T	c.(1057-1059)Gct>Tct	p.A353S		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	353						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)		TTCTATTTTTGCTGAATATGC	0.323																																																	0													97	89	91					5																	93990359		692	1588	2280	SO:0001583	missense	0			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.1057G>T	5.37:g.93990359G>T	ENSP00000265140:p.Ala353Ser		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A353S	ENST00000265140.5	37	c.1057	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260072	0.23051	.	.	ENSG00000133302	ENST00000265140	T	0.30981	1.51	4.58	-1.4	0.08968	.	0.986072	0.08245	N	0.975458	T	0.18425	0.0442	N	0.25647	0.755	0.20563	N	0.999884	B	0.20261	0.043	B	0.17433	0.018	T	0.28744	-1.0034	10	0.39692	T	0.17	.	4.6657	0.12664	0.5053:0.1718:0.3228:0.0	.	353	Q9BQI6	ANR32_HUMAN	S	353	ENSP00000265140:A353S	ENSP00000265140:A353S	A	+	1	0	ANKRD32	94016115	0.640000	0.27243	0.882000	0.34594	0.938000	0.57974	0.048000	0.14078	-0.160000	0.11002	0.655000	0.94253	GCT	ANKRD32	-	NULL	ENSG00000133302		0.323	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	-	0	70	0	G	NM_032290		93990359	1	tier1	-	no_errors	ENST00000265140	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.916	T	T	93990359	G	T	93990359	3	4	161	1	0	0	0	0	1	0	0	0	660	1319	46	3	1087	3	ANKRD32	5	93990359	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	14172433	93990359	86924901	34	40952											
TRIM36	55521	genome.wustl.edu	37	chr5	114477023	114477023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcagatatttgactcttcaCctggctttccttaccaataa	10	16	4	11	0	3	2	2	1	1	1	4	2	4	2	3	1	1	1	3	1	4	7			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr5:114477023C>T	ENST00000282369.3	-	5	941	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	TRIM36_ENST00000513154.1_Missense_Mutation_p.V262M|TRIM36_ENST00000514154.1_Missense_Mutation_p.V119M	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	274					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)	p.Q273_V274>HL(1)		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)		TGACTCTTCACCTGGCTTTCC	0.308																																																	1	Complex - compound substitution(1)	lung(1)											104	101	102					5																	114477023		2200	4296	6496	SO:0001583	missense	0			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.820G>A	5.37:g.114477023C>T	ENSP00000282369:p.Val274Met		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V274M	ENST00000282369.3	37	c.820	CCDS4115.1	5	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923811	0.92319	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.22336	1.96;1.96;1.96	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.956;0.984	T	0.13629	-1.0502	10	0.38643	T	0.18	.	19.423	0.94729	0.0:1.0:0.0:0.0	.	262;274	E9PFI8;Q9NQ86	.;TRI36_HUMAN	M	274;262;119	ENSP00000282369:V274M;ENSP00000423934:V262M;ENSP00000424259:V119M	ENSP00000282369:V274M	V	-	1	0	TRIM36	114504922	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.045000	0.76585	2.666000	0.90696	0.643000	0.83706	GTG	TRIM36	-	NULL	ENSG00000152503		0.308	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2		0	56	0	C	NM_018700		114477023	-1			no_errors	ENST00000282369	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	114477023	C	T	114477023	3	4	161	1	0	0	0	0	1	0	0	0	16558	507	18	3	1390	3	TRIM36	5	114477023	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	20486664	114477023	66438237	35	40953											
TGFBI	7045	genome.wustl.edu	37	chr5	135391471	135391471	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgacccccccaatggggactGtcatggatgtcctgaaggga	9	8	13	11	0	1	2	1	2	0	0	2	5	2	5	4	4	0	0	4	4	2	0	rs201775031	byFrequency	TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr5:135391471G>T	ENST00000442011.2	+	11	1674	c.1513G>T	c.(1513-1515)Gtc>Ttc	p.V505F	TGFBI_ENST00000305126.8_Missense_Mutation_p.V505F	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	505	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.		V -> D (in CDL1). {ECO:0000269|PubMed:15838722}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATGGGGACTGTCATGGATGT	0.602																																																	0													43	45	44					5																	135391471		1917	4124	6041	SO:0001583	missense	0			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1513G>T	5.37:g.135391471G>T	ENSP00000416330:p.Val505Phe		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain	p.V505F	ENST00000442011.2	37	c.1513	CCDS47266.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.92|16.92	3.255786|3.255786	0.59321|0.59321	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000514554|ENST00000442011;ENST00000398813;ENST00000305126	.|D;D	.|0.92699	.|-3.09;-3.09	5.87|5.87	4.07|4.07	0.47477|0.47477	.|FAS1 domain (3);	.|0.158760	.|0.56097	.|D	.|0.000028	D|D	0.93161|0.93161	0.7822|0.7822	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|P;P	.|0.46142	.|0.873;0.764	.|P;P	.|0.46362	.|0.514;0.514	D|D	0.93607|0.93607	0.6935|0.6935	5|10	.|0.56958	.|D	.|0.05	-1.5614|-1.5614	13.4813|13.4813	0.61336|0.61336	0.1326:0.0:0.8674:0.0|0.1326:0.0:0.8674:0.0	.|.	.|238;505	.|B9ZVW9;Q15582	.|.;BGH3_HUMAN	F|F	222|505;238;505	.|ENSP00000416330:V505F;ENSP00000306306:V505F	.|ENSP00000306306:V505F	C|V	+|+	2|1	0|0	TGFBI|TGFBI	135419370|135419370	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.993000|0.993000	0.82548|0.82548	2.827000|2.827000	0.48112|0.48112	1.632000|1.632000	0.50472|0.50472	0.655000|0.655000	0.94253|0.94253	TGT|GTC	TGFBI	-	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,superfamily_FAS1_domain,pfscan_FAS1_domain	ENSG00000120708		0.602	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	HGNC	protein_coding	OTTHUMT00000372108.1		0	93	0	G			135391471	1			no_errors	ENST00000305126	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.978	T	T	135391471	G	T	135391471	3	4	161	1	0	0	0	0	1	0	0	0	15867	1377	48	3	1555	3	TGFBI	5	135391471	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	20914448	135391471	45523789	36	40954											
F12	2161	genome.wustl.edu	37	chr5	176829303	176829303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgagcaatcaggaaacgGtgtgctcccggatccaggcc	9	6	12	14	2	1	1	1	1	0	0	3	3	3	3	4	4	3	2	4	4	2	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr5:176829303G>T	ENST00000253496.3	-	14	1886	c.1838C>A	c.(1837-1839)aCc>aAc	p.T613N	PFN3_ENST00000358571.2_5'Flank|F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	613	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)	TCAGGAAACGGTGTGCTCCCG	0.587									Hereditary Angioedema																																								0													85	60	69					5																	176829303		2203	4300	6503	SO:0001583	missense	0	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.1838C>A	5.37:g.176829303G>T	ENSP00000253496:p.Thr613Asn		P78339	Missense_Mutation	SNP	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1	p.T613N	ENST00000253496.3	37	c.1838	CCDS34302.1	5	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064269	0.55432	.	.	ENSG00000131187	ENST00000253496	T	0.61158	0.13	5.41	-1.3	0.09259	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	1.228460	0.05931	N	0.635180	T	0.61800	0.2376	M	0.78049	2.395	0.09310	N	1	P	0.49961	0.93	P	0.44860	0.462	T	0.60058	-0.7337	10	0.72032	D	0.01	.	10.1019	0.42511	0.6328:0.0:0.3672:0.0	.	613	P00748	FA12_HUMAN	N	613	ENSP00000253496:T613N	ENSP00000253496:T613N	T	-	2	0	F12	176761909	0.046000	0.20272	0.044000	0.18714	0.833000	0.47200	0.155000	0.16362	-0.083000	0.12618	0.561000	0.74099	ACC	F12	-	pirsf_Coagulation_fac_XIIa/HGFA,superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1	ENSG00000131187		0.587	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F12	HGNC	protein_coding	OTTHUMT00000373217.1	-	0	40	0	G			176829303	-1	tier1	-	no_errors	ENST00000253496	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.065	T	T	176829303	G	T	176829303	3	4	161	1	0	0	0	0	1	0	0	0	5355	1261	44	3	13	3	F12	5	176829303	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	41437832	176829303	4085957	37	40955											
GCNT2	2651	genome.wustl.edu	37	chr6	10586824	10586824	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccccctgaaaaccaaccGggagatagttcagcatctga	12	8	8	13	1	2	3	1	2	1	1	3	4	3	3	4	1	3	2	4	1	4	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr6:10586824G>T	ENST00000379597.3	+	2	1481				GCNT2_ENST00000265012.4_Missense_Mutation_p.R201L|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AAAACCAACCGGGAGATAGTT	0.488																																																	0													85	85	85					6																	10586824		2203	4300	6503	SO:0001627	intron_variant	0			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.926-34760G>T	6.37:g.10586824G>T				Missense_Mutation	SNP	pfam_Glyco_trans_14	p.R201L	ENST00000379597.3	37	c.602	CCDS34338.1	6	.	.	.	.	.	.	.	.	.	.	G	19.26	3.794213	0.70452	.	.	ENSG00000111846	ENST00000265012	T	0.11169	2.8	5.47	-3.63	0.04529	.	.	.	.	.	T	0.02571	0.0078	L	0.28344	0.845	0.19945	N	0.999948	B	0.09022	0.002	B	0.17722	0.019	T	0.40136	-0.9579	9	0.33141	T	0.24	.	14.8594	0.70369	0.2837:0.0:0.7163:0.0	.	201	Q8NFS9	GNT2C_HUMAN	L	201	ENSP00000265012:R201L	ENSP00000265012:R201L	R	+	2	0	GCNT2	10694810	0.002000	0.14202	0.917000	0.36280	0.987000	0.75469	-0.516000	0.06282	-0.658000	0.05366	0.655000	0.94253	CGG	GCNT2	-	pfam_Glyco_trans_14	ENSG00000111846		0.488	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3		0	48	0	G	NM_145649		10586824	1			no_errors	ENST00000265012	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.252	T	T	10586824	G	T	10586824	1	4	161	0	1	0	0	0	0	0	0	0	6326	1116	39	2		2	GCNT2	6	10586824	Intron	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09		10586824	160528243	38	40956											
ELOVL2	54898	genome.wustl.edu	37	chr6	10995243	10995243	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttaacaaaataacttactttGtccacaaggtatccagttca	15	13	4	9	0	1	0	1	0	0	0	3	0	3	0	2	1	3	2	2	1	7	6			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr6:10995243G>T	ENST00000354666.3	-	5	585	c.502C>A	c.(502-504)Caa>Aaa	p.Q168K		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	168					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)	p.Q168K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AACTTACTTTGTCCACAAGGT	0.383																																																	1	Substitution - Missense(1)	lung(1)											142	141	141					6																	10995243		2203	4300	6503	SO:0001583	missense	0			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.502C>A	6.37:g.10995243G>T	ENSP00000346693:p.Gln168Lys		Q6P9E1|Q86W94	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.Q168K	ENST00000354666.3	37	c.502	CCDS4518.1	6	.	.	.	.	.	.	.	.	.	.	G	31	5.092513	0.94149	.	.	ENSG00000197977	ENST00000354666	T	0.21543	2.0	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	M	0.92268	3.29	0.80722	D	1	P	0.46142	0.873	P	0.49192	0.602	T	0.53809	-0.8386	10	0.66056	D	0.02	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	168	Q9NXB9	ELOV2_HUMAN	K	168	ENSP00000346693:Q168K	ENSP00000346693:Q168K	Q	-	1	0	ELOVL2	11103229	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.640000	0.98453	2.716000	0.92895	0.655000	0.94253	CAA	ELOVL2	-	pfam_GNS1_SUR4	ENSG00000197977		0.383	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL2	HGNC	protein_coding	OTTHUMT00000039849.1		0	46	0	G			10995243	-1			no_errors	ENST00000354666	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	10995243	G	T	10995243	3	4	161	1	0	0	0	0	1	0	0	0	5090	1386	48	3	404	3	ELOVL2	6	10995243	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	408419	10995243	160119824	39	40957											
ZKSCAN3	80317	genome.wustl.edu	37	chr6	28333434	28333434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaaagctcaggcctgaGtaaacacaggagaatccaca	15	6	9	11	0	2	2	2	1	0	1	3	3	3	2	2	2	3	3	2	2	4	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr6:28333434G>C	ENST00000377255.3	+	7	1286	c.989G>C	c.(988-990)aGt>aCt	p.S330T	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.S330T|ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.S182T	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	330					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TCAGGCCTGAGTAAACACAGG	0.502																																																	0													107	96	100					6																	28333434		2203	4300	6503	SO:0001583	missense	0			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.989G>C	6.37:g.28333434G>C	ENSP00000366465:p.Ser330Thr		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S330T	ENST00000377255.3	37	c.989	CCDS4650.1	6	.	.	.	.	.	.	.	.	.	.	.	5.397	0.258529	0.10239	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.07567	3.18;3.18;3.18	3.73	-5.0	0.03001	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00936	0.0031	N	0.04994	-0.135	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48570	-0.9024	9	0.17369	T	0.5	.	9.5107	0.39076	0.079:0.6465:0.1696:0.1049	.	330	Q9BRR0	ZKSC3_HUMAN	T	330;182;330	ENSP00000252211:S330T;ENSP00000341883:S182T;ENSP00000366465:S330T	ENSP00000252211:S330T	S	+	2	0	ZKSCAN3	28441413	0.000000	0.05858	0.913000	0.36048	0.997000	0.91878	-4.169000	0.00281	-0.845000	0.04179	0.655000	0.94253	AGT	ZKSCAN3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189298		0.502	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN3	HGNC	protein_coding	OTTHUMT00000040189.3	-	0	81	0	G	NM_024493		28333434	1	tier1	-	no_errors	ENST00000252211	ensembl	human	known	74_37	missense	40.68	35	24	SNP	0.000	C	C	28333434	G	C	28333434	3	2	161	1	0	0	0	0	1	0	0	0	17736	1029	36	5	1007	5	ZKSCAN3	6	28333434	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	17338191	28333434	142781633	40	40958											
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34826288	34826288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccataccttgaattttGtagcccccttccccctgtcc	7	12	6	16	0	0	1	0	1	0	0	2	1	2	1	7	1	2	1	7	1	4	6			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr6:34826288G>T	ENST00000192788.5	+	14	2326	c.2155G>T	c.(2155-2157)Gta>Tta	p.V719L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.V719L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	719							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						CTTGAATTTTGTAGCCCCCTT	0.552																																																	0													68	71	70					6																	34826288		1893	4107	6000	SO:0001583	missense	0			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.2155G>T	6.37:g.34826288G>T	ENSP00000192788:p.Val719Leu		Q9NXE0	Missense_Mutation	SNP	NULL	p.V719L	ENST00000192788.5	37	c.2155	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542816	0.65198	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.12879	2.64;2.64	5.55	5.55	0.83447	.	0.069184	0.56097	D	0.000023	T	0.05960	0.0155	L	0.46157	1.445	0.51767	D	0.999933	P	0.49253	0.921	B	0.38880	0.284	T	0.08953	-1.0697	10	0.72032	D	0.01	-15.652	7.2779	0.26294	0.2028:0.0:0.7972:0.0	.	719	Q6BDS2	URFB1_HUMAN	L	719	ENSP00000192788:V719L;ENSP00000400628:V719L	ENSP00000192788:V719L	V	+	1	0	UHRF1BP1	34934266	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.148000	0.58085	2.624000	0.88883	0.585000	0.79938	GTA	UHRF1BP1	-	NULL	ENSG00000065060		0.552	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1		0	50	0	G	NM_017754		34826288	1			no_errors	ENST00000192788	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	34826288	G	T	34826288	3	4	161	1	0	0	0	0	1	0	0	0	17017	1377	48	3	2209	3	UHRF1BP1	6	34826288	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	6492854	34826288	136288779	41	40959											
BRPF3	27154	genome.wustl.edu	37	chr6	36193106	36193106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcccttggagctggtgtggGccaagtgccgaggctacccc	6	7	15	13	1	0	0	0	0	0	0	0	2	0	1	5	4	4	2	5	4	2	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr6:36193106G>A	ENST00000357641.6	+	11	3497	c.3244G>A	c.(3244-3246)Gcc>Acc	p.A1082T	BRPF3_ENST00000534400.1_Intron|BRPF3_ENST00000534694.1_Missense_Mutation_p.A748T|BRPF3_ENST00000339717.7_Missense_Mutation_p.A812T|BRPF3_ENST00000543502.1_Missense_Mutation_p.A812T|BRPF3_ENST00000443324.2_Missense_Mutation_p.A748T	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1082	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				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						GCTGGTGTGGGCCAAGTGCCG	0.652																																																	0													63	62	62					6																	36193106		2203	4300	6503	SO:0001583	missense	0			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.3244G>A	6.37:g.36193106G>A	ENSP00000350267:p.Ala1082Thr		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.A1082T	ENST00000357641.6	37	c.3244	CCDS34437.1	6	.	.	.	.	.	.	.	.	.	.	G	37	5.983057	0.97173	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	6.04	6.04	0.98038	PWWP (3);	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	M	0.88310	2.945	0.46521	D	0.999083	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.76225	-0.3037	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	748;812;1082	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	T	1082;812;748;812;748	ENSP00000350267:A1082T;ENSP00000345419:A812T;ENSP00000434501:A748T;ENSP00000445352:A812T;ENSP00000387368:A748T	ENSP00000345419:A812T	A	+	1	0	BRPF3	36301084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GCC	BRPF3	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000096070		0.652	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	-	0	65	0	G	NM_015695		36193106	1	tier1	-	no_errors	ENST00000357641	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	36193106	G	A	36193106	3	1	161	1	0	0	0	0	1	0	0	0	1525	1203	42	3	3282	3	BRPF3	6	36193106	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	1366818	36193106	134921961	42	40960											
DNAH8	1769	genome.wustl.edu	37	chr6	38957896	38957896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaatacatccagtcactgCcatccctagataaccctgaa	13	10	5	13	0	1	3	1	2	0	1	3	3	3	3	4	0	3	0	4	0	5	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr6:38957896C>T	ENST00000359357.3	+	86	12765	c.12511C>T	c.(12511-12513)Cca>Tca	p.P4171S	DNAH8_ENST00000441566.1_Missense_Mutation_p.P4135S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4171					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						CCAGTCACTGCCATCCCTAGA	0.398																																																	0													207	194	198					6																	38957896		2203	4300	6503	SO:0001583	missense	0			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.12511C>T	6.37:g.38957896C>T	ENSP00000352312:p.Pro4171Ser		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P4171S	ENST00000359357.3	37	c.12511		6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605149	0.87157	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.11385	2.78;2.78;2.78	5.01	5.01	0.66863	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.24812	0.0602	M	0.83012	2.62	0.80722	D	1	P	0.50443	0.935	P	0.57620	0.824	T	0.03453	-1.1035	10	0.56958	D	0.05	.	18.3509	0.90338	0.0:1.0:0.0:0.0	.	4171	Q96JB1	DYH8_HUMAN	S	4376;4171;4135	ENSP00000333363:P4376S;ENSP00000352312:P4171S;ENSP00000402294:P4135S	ENSP00000333363:P4376S	P	+	1	0	DNAH8	39065874	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	5.288000	0.65651	2.323000	0.78572	0.650000	0.86243	CCA	DNAH8	-	pfam_Dynein_heavy_dom	ENSG00000124721		0.398	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0	90	0	C	NM_001206927		38957896	1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	43.04	45	34	SNP	0.999	T	T	38957896	C	T	38957896	3	4	161	1	0	0	0	0	1	0	0	0	4621	739	26	3	12845	3	DNAH8	6	38957896	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	2764790	38957896	132157171	43	40961											
GPR116	221395	genome.wustl.edu	37	chr6	46828573	46828573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctttgtctatgctaataGaaagatccttcaggtatgta	11	14	8	8	1	2	2	1	0	1	2	3	2	3	2	2	1	1	4	2	1	6	7			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr6:46828573G>T	ENST00000283296.7	-	16	2546	c.2258C>A	c.(2257-2259)tCt>tAt	p.S753Y	GPR116_ENST00000362015.4_Missense_Mutation_p.S753Y|GPR116_ENST00000545669.1_Missense_Mutation_p.S182Y|GPR116_ENST00000456426.2_Missense_Mutation_p.S611Y|GPR116_ENST00000265417.7_Missense_Mutation_p.S753Y	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	753					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TATGCTAATAGAAAGATCCTT	0.418																																					NSCLC(59;410 1274 8751 36715 50546)												0													112	109	110					6																	46828573		2203	4300	6503	SO:0001583	missense	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2258C>A	6.37:g.46828573G>T	ENSP00000283296:p.Ser753Tyr		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.S753Y	ENST00000283296.7	37	c.2258	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883738	0.51908	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.31510	1.53;1.91;1.55;1.53;1.49	5.68	5.68	0.88126	.	0.237953	0.30085	N	0.010456	T	0.44644	0.1303	M	0.72118	2.19	0.32325	N	0.561857	D;D;D;D;D	0.71674	0.998;0.997;0.997;0.998;0.998	D;D;P;D;P	0.71414	0.969;0.94;0.897;0.973;0.896	T	0.43294	-0.9400	10	0.48119	T	0.1	-25.4902	15.296	0.73910	0.0:0.0:1.0:0.0	.	182;308;753;611;753	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	Y	753;753;753;611;124;753;182	ENSP00000283296:S753Y;ENSP00000354563:S753Y;ENSP00000412866:S611Y;ENSP00000265417:S753Y;ENSP00000441581:S182Y	ENSP00000265417:S753Y	S	-	2	0	GPR116	46936532	0.550000	0.26489	0.946000	0.38457	0.340000	0.28889	1.614000	0.36911	2.689000	0.91719	0.655000	0.94253	TCT	GPR116	-	NULL	ENSG00000069122		0.418	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2		0	62	0	G	NM_015234		46828573	-1			no_errors	ENST00000265417	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.950	T	T	46828573	G	T	46828573	3	4	161	1	0	0	0	0	1	0	0	0	6659	942	33	3	1806	3	GPR116	6	46828573	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	7870677	46828573	124286494	44	40962											
LGSN	51557	genome.wustl.edu	37	chr6	63995557	63995557	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtctgttgcttcaaatcGtacaaactggaggcgatttt	10	13	11	7	2	2	0	1	0	1	0	3	3	2	1	0	3	3	3	0	3	3	5	rs556886901		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr6:63995557G>T	ENST00000370657.4	-	3	298	c.265C>A	c.(265-267)Cga>Aga	p.R89R	LGSN_ENST00000370658.5_Silent_p.R89R			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	89					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.R89*(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCTTCAAATCGTACAAACTGG	0.433																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											123	103	109					6																	63995557		2203	4300	6503	SO:0001819	synonymous_variant	0			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.265C>A	6.37:g.63995557G>T			A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.R89	ENST00000370657.4	37	c.265	CCDS4964.1	6																																																																																			LGSN	-	pfam_Gln_synt_beta,superfamily_Gln_synt_beta	ENSG00000146166		0.433	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGSN	HGNC	protein_coding	OTTHUMT00000041076.2		0	74	0	G	NM_016571		63995557	-1			no_errors	ENST00000370657	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.999	T	T	63995557	G	T	63995557	2	4	161	1	0	0	0	0	0	0	0	1	8788	1153	40	2		2	LGSN	6	63995557	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	17166984	63995557	107119510	45	40963											
TTK	7272	genome.wustl.edu	37	chr6	80749463	80749463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtattttgtactatatGacttacgggaaaacaccatt	13	14	8	6	1	0	1	0	1	0	0	0	3	0	3	1	2	3	2	1	2	7	8			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr6:80749463G>T	ENST00000369798.2	+	19	2292	c.2181G>T	c.(2179-2181)atG>atT	p.M727I	TTK_ENST00000509894.1_Missense_Mutation_p.M726I|TTK_ENST00000230510.3_Missense_Mutation_p.M726I	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	727	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGTACTATATGACTTACGGGA	0.303																																																	0													67	69	68					6																	80749463		2203	4285	6488	SO:0001583	missense	0				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.2181G>T	6.37:g.80749463G>T	ENSP00000358813:p.Met727Ile		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M727I	ENST00000369798.2	37	c.2181	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478036	0.63849	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.74421	-0.84;-0.84;-0.84	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	0.78861	0.4350	L	0.37750	1.13	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.982;0.999	T	0.80560	-0.1328	10	0.72032	D	0.01	.	18.9361	0.92586	0.0:0.0:1.0:0.0	.	727;726	P33981;A8K8U5	TTK_HUMAN;.	I	726;726;727	ENSP00000422936:M726I;ENSP00000230510:M726I;ENSP00000358813:M727I	ENSP00000230510:M726I	M	+	3	0	TTK	80806182	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	9.467000	0.97671	2.704000	0.92352	0.650000	0.86243	ATG	TTK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000112742		0.303	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	-	0	98	0	G			80749463	1	tier1	-	no_errors	ENST00000369798	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	T	T	80749463	G	T	80749463	3	4	161	1	0	0	0	0	1	0	0	0	16769	1290	45	3	2251	3	TTK	6	80749463	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	16753906	80749463	90365604	46	40964											
C6orf170	221322	genome.wustl.edu	37	chr6	121526252	121526252	+	Missense_Mutation	SNP	T	T	C	0	1	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	gatatgtgattgttcatagtTgaataaagaacgaatcttag	15	14	9	3	1	2	3	1	2	1	1	2	5	2	3	0	0	1	2	0	0	8	7			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr6:121526252T>C	ENST00000398212.2	-	22	2588	c.2539A>G	c.(2539-2541)Aac>Gac	p.N847D	TBC1D32_ENST00000275159.6_Missense_Mutation_p.N847D|TBC1D32_ENST00000398197.2_Intron	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	847					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)										TGTTCATAGTTGAATAAAGAA	0.264																																																	0													54	55	55					6																	121526252		1786	4037	5823	SO:0001583	missense	0			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.2539A>G	6.37:g.121526252T>C	ENSP00000381270:p.Asn847Asp		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom	p.N847D	ENST00000398212.2	37	c.2539	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	T	12.54	1.969653	0.34754	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.23348	1.91;1.91	5.74	4.58	0.56647	.	0.126552	0.64402	N	0.000001	T	0.09113	0.0225	L	0.38175	1.15	0.37005	D	0.895463	B;B	0.17667	0.006;0.023	B;B	0.20184	0.005;0.028	T	0.06770	-1.0808	10	0.33940	T	0.23	.	9.7627	0.40541	0.0:0.0793:0.0:0.9207	.	847;847	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	D	847	ENSP00000275159:N847D;ENSP00000381270:N847D	ENSP00000275159:N847D	N	-	1	0	C6orf170	121567951	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.300000	0.51834	1.116000	0.41820	0.459000	0.35465	AAC	TBC1D32	-	NULL	ENSG00000146350		0.264	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2	-	0	188	0	T	NM_152730		121526252	-1	tier1	-	no_errors	ENST00000275159	ensembl	human	putative	74_37	missense	44.16	43	34	SNP	1.000	C	C	121526252	T	C	121526252	3	2	161	1	0	0	0	0	1	0	0	0	2351	1812	63	4	1278	4	C6orf170	6	121526252	Missense_Mutation	SNP	T	TCGA-VR-A8EO-01A-11D-A36J-09	40776789	121526252	49588815	47	40965											
SYNE1	23345	genome.wustl.edu	37	chr6	152737763	152737763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagctcccgattttcaGatggtattgggctttggaaa	9	13	11	8	1	2	2	2	0	0	2	3	4	3	3	1	3	1	3	1	3	2	5			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr6:152737763G>T	ENST00000367255.5	-	41	6410	c.5809C>A	c.(5809-5811)Ctg>Atg	p.L1937M	SYNE1_ENST00000341594.5_Missense_Mutation_p.L1974M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L1944M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L1944M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L1937M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1937					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)		CCGATTTTCAGATGGTATTGG	0.478										HNSCC(10;0.0054)																																							0													106	102	104					6																	152737763		2203	4300	6503	SO:0001583	missense	0			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.5809C>A	6.37:g.152737763G>T	ENSP00000356224:p.Leu1937Met		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L1937M	ENST00000367255.5	37	c.5809	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304087	0.40795	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	6.17	4.39	0.52855	.	0.000000	0.49916	D	0.000136	T	0.51907	0.1702	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.996	D;D;D;P	0.70487	0.96;0.969;0.969;0.896	T	0.58070	-0.7701	10	0.59425	D	0.04	.	12.0889	0.53713	0.1907:0.0:0.8093:0.0	.	1920;1937;1937;1944	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	1937;1944;1937;1944;1974	ENSP00000356224:L1937M;ENSP00000396024:L1944M;ENSP00000265368:L1937M;ENSP00000390975:L1944M;ENSP00000341887:L1974M	ENSP00000265368:L1937M	L	-	1	2	SYNE1	152779456	1.000000	0.71417	0.846000	0.33378	0.970000	0.65996	2.592000	0.46171	0.927000	0.37143	0.655000	0.94253	CTG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	23	0	G	NM_182961		152737763	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.750	T	T	152737763	G	T	152737763	3	4	161	1	0	0	0	0	1	0	0	0	15492	933	33	3	21081	3	SYNE1	6	152737763	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	31211511	152737763	18377304	48	40966											
PHF14	9678	genome.wustl.edu	37	chr7	11068427	11068427	+	Silent	SNP	A	A	G	1	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	caaaaggaaggtctgctttcAgaggcagcggcggaagaggt	12	6	16	7	2	2	2	1	0	1	2	2	4	2	4	0	6	2	2	0	6	4	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr7:11068427A>G	ENST00000403050.3	+	7	1889	c.1437A>G	c.(1435-1437)tcA>tcG	p.S479S	PHF14_ENST00000445996.2_Silent_p.S194S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	479					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S479S(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTCTGCTTTCAGAGGCAGCGG	0.433																																																	2	Substitution - coding silent(2)	lung(2)											114	108	110					7																	11068427		1940	4149	6089	SO:0001819	synonymous_variant	0			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1437A>G	7.37:g.11068427A>G			A7MCZ3|B4DI82	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S479	ENST00000403050.3	37	c.1437	CCDS47542.1	7																																																																																			PHF14	-	smart_Znf_PHD	ENSG00000106443		0.433	PHF14-001	KNOWN	basic|CCDS	protein_coding	PHF14	HGNC	protein_coding	OTTHUMT00000318212.1		0	67	0	A	NM_014660		11068427	1			no_errors	ENST00000403050	ensembl	human	known	74_37	silent	5.66	50	3	SNP	1.000	G	G	11068427	A	G	11068427	2	3	161	1	0	0	0	0	0	0	0	1	11864	175	7	4		4	PHF14	7	11068427	Silent	SNP	A	TCGA-VR-A8EO-01A-11D-A36J-09		11068427	148070236	49	40967											
PDE1C	5137	genome.wustl.edu	37	chr7	31876883	31876883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctaatatctgctgtatgcaGcataagggataaggcttttg	11	13	11	6	0	1	0	0	0	1	0	1	1	1	1	0	2	3	6	0	2	5	7			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr7:31876883G>T	ENST00000396191.1	-	11	1569	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	PDE1C_ENST00000321453.7_Missense_Mutation_p.L372M|PDE1C_ENST00000396184.3_Missense_Mutation_p.L372M|PDE1C_ENST00000396182.2_Missense_Mutation_p.L372M|PDE1C_ENST00000396193.1_Missense_Mutation_p.L432M	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	372	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)	GCTGTATGCAGCATAAGGGAT	0.433																																																	0													184	159	167					7																	31876883		2203	4300	6503	SO:0001583	missense	0			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.1114C>A	7.37:g.31876883G>T	ENSP00000379494:p.Leu372Met		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.L372M	ENST00000396191.1	37	c.1114	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293546	0.60086	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	4.76	-0.347	0.12617	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	0.83031	0.5166	M	0.64676	1.99	0.46542	D	0.999093	D;D;D	0.63046	0.963;0.992;0.992	D;D;D	0.74348	0.937;0.983;0.936	T	0.80797	-0.1222	10	0.87932	D	0	.	10.2751	0.43506	0.5901:0.0:0.4099:0.0	.	372;432;372	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	M	432;372;372;372;372	ENSP00000379496:L432M;ENSP00000379494:L372M;ENSP00000318105:L372M;ENSP00000379487:L372M;ENSP00000379485:L372M	ENSP00000318105:L372M	L	-	1	2	PDE1C	31843408	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	0.889000	0.28282	-0.319000	0.08652	0.609000	0.83330	CTG	PDE1C	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	ENSG00000154678		0.433	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1		0	22	0	G			31876883	-1			no_errors	ENST00000321453	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.996	T	T	31876883	G	T	31876883	3	4	161	1	0	0	0	0	1	0	0	0	11674	962	34	3	818	3	PDE1C	7	31876883	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	20808456	31876883	127261780	50	40968											
ABCA13	154664	genome.wustl.edu	37	chr7	48564007	48564007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatattattgctgtgcaaGatattagtttgggcatacca	13	14	9	5	0	0	2	0	0	0	2	0	2	0	2	1	1	3	4	1	1	7	7			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr7:48564007G>T	ENST00000435803.1	+	54	14239	c.14215G>T	c.(14215-14217)Gat>Tat	p.D4739Y	ABCA13_ENST00000544596.1_Missense_Mutation_p.D469Y	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4739	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						TGCTGTGCAAGATATTAGTTT	0.368																																																	0													95	94	94					7																	48564007		1818	4084	5902	SO:0001583	missense	0			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.14215G>T	7.37:g.48564007G>T	ENSP00000411096:p.Asp4739Tyr		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D4739Y	ENST00000435803.1	37	c.14215	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631166	0.46944	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	T;T;T	0.48522	0.81;0.81;0.81	5.52	4.64	0.57946	ABC transporter-like (1);	0.240170	0.29059	N	0.013261	T	0.64011	0.2560	M	0.79805	2.47	0.09310	N	1	P;D;D	0.67145	0.898;0.995;0.996	P;P;P	0.62560	0.789;0.904;0.862	T	0.59332	-0.7474	10	0.72032	D	0.01	.	8.3453	0.32270	0.1865:0.0:0.8135:0.0	.	469;2441;4739	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	Y	4739;512;469	ENSP00000411096:D4739Y;ENSP00000391042:D512Y;ENSP00000442634:D469Y	ENSP00000391042:D512Y	D	+	1	0	ABCA13	48534553	0.122000	0.22280	0.026000	0.17262	0.696000	0.40369	3.220000	0.51207	1.439000	0.47511	0.655000	0.94253	GAT	ABCA13	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000179869		0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2		0	79	0	G	NM_152701		48564007	1			no_errors	ENST00000435803	ensembl	human	known	74_37	missense	5.26	53	3	SNP	0.091	T	T	48564007	G	T	48564007	3	4	161	1	0	0	0	0	1	0	0	0	31	942	33	3	14258	3	ABCA13	7	48564007	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	16687124	48564007	110574656	51	40969											
ZNF716	441234	genome.wustl.edu	37	chr7	57529387	57529387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aactcatactggagagaaacCctacaaatgtgaagaatgtg	17	8	9	7	0	1	3	1	1	0	2	1	5	1	4	1	1	4	0	1	1	7	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr7:57529387C>A	ENST00000420713.1	+	4	1332	c.1220C>A	c.(1219-1221)cCc>cAc	p.P407H		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						GGAGAGAAACCCTACAAATGT	0.398																																																	0													29	30	29					7																	57529387		692	1591	2283	SO:0001583	missense	0			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1220C>A	7.37:g.57529387C>A	ENSP00000394248:p.Pro407His			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P407H	ENST00000420713.1	37	c.1220	CCDS55112.1	7	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263901	0.39995	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.29397	1.57	0.195	0.195	0.15151	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48572	0.1507	M	0.85859	2.78	0.33048	D	0.532342	D	0.71674	0.998	P	0.59889	0.865	T	0.59500	-0.7443	9	0.72032	D	0.01	.	6.2336	0.20750	0.0:0.9997:0.0:3.0E-4	.	395	A6NP11	ZN716_HUMAN	H	407;395	ENSP00000394248:P407H	ENSP00000387687:P395H	P	+	2	0	ZNF716	57533329	0.024000	0.19004	0.118000	0.21660	0.119000	0.20118	2.074000	0.41529	0.300000	0.22699	0.306000	0.20318	CCC	ZNF716	-	pfscan_Znf_C2H2	ENSG00000182111		0.398	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	HGNC	protein_coding	OTTHUMT00000345309.1	-	0	62	0	C	NM_001159279		57529387	1	tier1	-	no_errors	ENST00000420713	ensembl	human	known	74_37	missense	12.96	47	7	SNP	0.996	A	A	57529387	C	A	57529387	3	1	161	1	0	0	0	0	1	0	0	0	18167	623	22	3	1234	3	ZNF716	7	57529387	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	8965380	57529387	101609276	52	40970											
MLXIPL	51085	genome.wustl.edu	37	chr7	73008267	73008267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatgcggcccgggtcggtCaggatactggtagatgtgcc	6	8	18	9	3	1	1	1	0	0	1	2	3	1	3	2	6	3	1	2	6	2	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr7:73008267C>T	ENST00000313375.3	-	17	2534	c.2487G>A	c.(2485-2487)ctG>ctA	p.L829L	MLXIPL_ENST00000429400.2_Silent_p.L810L|MLXIPL_ENST00000434326.1_3'UTR|MLXIPL_ENST00000395189.1_Silent_p.L736L|MLXIPL_ENST00000414749.2_Silent_p.L827L|MLXIPL_ENST00000354613.1_Silent_p.L808L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	829					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)				CCGGGTCGGTCAGGATACTGG	0.612																																																	0													75	69	71					7																	73008267		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2487G>A	7.37:g.73008267C>T			C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.L829	ENST00000313375.3	37	c.2487	CCDS5553.1	7																																																																																			MLXIPL	-	NULL	ENSG00000009950		0.612	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	-	0	53	0	C	NM_032951		73008267	-1	tier1	-	no_errors	ENST00000313375	ensembl	human	known	74_37	silent	57.14	6	8	SNP	1.000	T	T	73008267	C	T	73008267	2	4	161	1	0	0	0	0	0	0	0	1	9675	813	29	3		3	MLXIPL	7	73008267	Silent	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	15478880	73008267	86130396	53	40971											
ZCWPW1	55063	genome.wustl.edu	37	chr7	99998790	99998790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagggggacacttccagcCtcctgggtcaggggttcccg	6	8	14	13	1	2	0	2	0	0	0	5	1	5	1	4	5	1	1	4	5	1	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr7:99998790C>A	ENST00000398027.2	-	18	2041	c.1794G>T	c.(1792-1794)gaG>gaT	p.E598D	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E427D|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E427D	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	598							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACTTCCAGCCTCCTGGGTCA	0.607																																																	0													46	47	47					7																	99998790		1926	4129	6055	SO:0001583	missense	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1794G>T	7.37:g.99998790C>A	ENSP00000381109:p.Glu598Asp		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW	p.E598D	ENST00000398027.2	37	c.1794	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898903	0.33535	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000324725	T;T;T	0.56941	0.75;0.43;0.43	5.1	-1.48	0.08745	.	.	.	.	.	T	0.32526	0.0832	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.11329	0.002;0.002;0.006	T	0.19386	-1.0307	8	.	.	.	-0.2962	3.748	0.08555	0.4135:0.3437:0.0:0.2428	.	559;598;427	B4DXS7;Q9H0M4;Q9H0M4-4	.;ZCPW1_HUMAN;.	D	598;427;427	ENSP00000381109:E598D;ENSP00000419187:E427D;ENSP00000314880:E427D	.	E	-	3	2	ZCWPW1	99836726	0.000000	0.05858	0.003000	0.11579	0.234000	0.25298	-0.471000	0.06631	-0.079000	0.12707	0.655000	0.94253	GAG	ZCWPW1	-	NULL	ENSG00000078487		0.607	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1		0	52	0	C	NM_017984		99998790	-1			no_errors	ENST00000398027	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.001	A	A	99998790	C	A	99998790	3	1	161	1	0	0	0	0	1	0	0	0	17645	680	24	3	156	3	ZCWPW1	7	99998790	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	26990523	99998790	59139873	54	40972											
ZNF425	155054	genome.wustl.edu	37	chr7	148802388	148802388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactttcctacagacatagCaggaatagcatcttggccct	12	10	8	11	0	1	2	0	0	1	2	2	3	2	3	2	2	3	2	2	2	4	5			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr7:148802388C>T	ENST00000378061.2	-	4	707	c.575G>A	c.(574-576)tGc>tAc	p.C192Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	192					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)	p.C192F(1)		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)			ACAGACATAGCAGGAATAGCA	0.498																																																	1	Substitution - Missense(1)	lung(1)											57	57	57					7																	148802388		2203	4300	6503	SO:0001583	missense	0			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.575G>A	7.37:g.148802388C>T	ENSP00000367300:p.Cys192Tyr		B3KPM1|Q08AG3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.C192Y	ENST00000378061.2	37	c.575	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712797	0.48517	.	.	ENSG00000204947	ENST00000378061	T	0.10668	2.85	2.89	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35248	0.0925	M	0.84846	2.72	0.28284	N	0.923856	D	0.89917	1.0	D	0.91635	0.999	T	0.09707	-1.0662	9	0.72032	D	0.01	.	11.555	0.50741	0.0:1.0:0.0:0.0	.	192	Q6IV72	ZN425_HUMAN	Y	192	ENSP00000367300:C192Y	ENSP00000367300:C192Y	C	-	2	0	ZNF425	148433321	0.831000	0.29352	0.017000	0.16124	0.107000	0.19398	1.947000	0.40293	1.627000	0.50400	0.655000	0.94253	TGC	ZNF425	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204947		0.498	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1		0	52	0	C	XM_088140		148802388	-1			no_errors	ENST00000378061	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.564	T	T	148802388	C	T	148802388	3	4	161	1	0	0	0	0	1	0	0	0	17947	710	25	3	1687	3	ZNF425	7	148802388	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	48803598	148802388	10336275	55	40973											
SSPO	23145	genome.wustl.edu	37	chr7	149485872	149485872	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtcaatggcattgtggggGtgacggtggccactgtgagg	7	9	19	6	1	1	2	1	2	0	0	1	2	1	2	1	7	0	1	1	7	1	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr7:149485872G>T	ENST00000378016.2	+	0	4091							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)			CATTGTGGGGGTGACGGTGGC	0.622																																																	0													79	84	82					7																	149485872		2183	4272	6455			0			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.149485872G>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.622	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	42	0	G			149485872	1	tier1	-	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	20.00	12	3	SNP	0.000	T	T	149485872	G	T	149485872	1	4	161	0	1	0	0	0	0	0	0	0	15236	1261	44	3		3	SSPO	7	149485872	RNA	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	683484	149485872	9652791	56	40974											
PAXIP1	22976	genome.wustl.edu	37	chr7	154739621	154739621	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cttaaagtgtaccttaaagaGtggagaaacgtgtgcccgtt	12	11	11	7	2	0	2	0	0	0	2	0	3	0	2	2	1	3	2	2	1	6	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr7:154739621G>T	ENST00000404141.1	-	17	3068	c.2914C>A	c.(2914-2916)Ctc>Atc	p.L972I	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.L972I			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	972	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				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)		ACCTTAAAGAGTGGAGAAACG	0.448																																																	0													193	180	184					7																	154739621		1907	4131	6038	SO:0001583	missense	0			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.2914C>A	7.37:g.154739621G>T	ENSP00000384048:p.Leu972Ile		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.L972I	ENST00000404141.1	37	c.2914	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066673	0.76301	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.48201	0.82;0.82	5.41	5.41	0.78517	BRCT (1);	0.000000	0.49305	U	0.000153	T	0.71592	0.3358	M	0.78285	2.405	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.989	D;D;D	0.85130	0.992;0.997;0.992	T	0.74250	-0.3726	10	0.72032	D	0.01	-25.2807	19.5534	0.95331	0.0:0.0:1.0:0.0	.	925;938;972	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	I	972;972;796;925	ENSP00000384048:L972I;ENSP00000380376:L972I	ENSP00000319149:L925I	L	-	1	0	PAXIP1	154370554	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	6.364000	0.73086	2.697000	0.92050	0.563000	0.77884	CTC	PAXIP1	-	smart_BRCT_dom	ENSG00000157212		0.448	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1		0	43	0	G	NM_007349		154739621	-1			no_errors	ENST00000397192	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T	T	154739621	G	T	154739621	3	4	161	1	0	0	0	0	1	0	0	0	11526	1029	36	3	315	3	PAXIP1	7	154739621	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	5253749	154739621	4399042	57	40975											
MYOM2	9172	genome.wustl.edu	37	chr8	2040194	2040194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtcccttctgctccgggtCgggttcttgcttcccgaaac	3	14	10	14	3	2	0	0	0	2	0	6	1	5	0	3	2	3	3	3	2	1	5			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr8:2040194C>T	ENST00000262113.4	+	16	1990	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	MYOM2_ENST00000523438.1_Missense_Mutation_p.R42W	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	617	Fibronectin type-III 3. {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)		TGCTCCGGGTCGGGTTCTTGC	0.547																																																	0													194	194	194					8																	2040194		2203	4300	6503	SO:0001583	missense	0				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.1849C>T	8.37:g.2040194C>T	ENSP00000262113:p.Arg617Trp		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R617W	ENST00000262113.4	37	c.1849	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326075	0.60743	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.58060	0.36;0.36	5.72	5.72	0.89469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.119371	0.64402	D	0.000017	T	0.73009	0.3532	M	0.79011	2.435	0.49213	D	0.999765	D	0.76494	0.999	D	0.65874	0.939	T	0.70215	-0.4933	10	0.34782	T	0.22	.	19.8835	0.96906	0.0:1.0:0.0:0.0	.	617	P54296	MYOM2_HUMAN	W	617;42	ENSP00000262113:R617W;ENSP00000428396:R42W	ENSP00000262113:R617W	R	+	1	2	MYOM2	2027601	1.000000	0.71417	0.924000	0.36721	0.015000	0.08874	4.525000	0.60559	2.705000	0.92388	0.555000	0.69702	CGG	MYOM2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000036448		0.547	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	-	0	82	0	C	NM_003970		2040194	1	tier1	-	no_errors	ENST00000262113	ensembl	human	known	74_37	missense	13.89	61	10	SNP	0.996	T	T	2040194	C	T	2040194	3	4	161	1	0	0	0	0	1	0	0	0	10130	875	31	1	1907	1	MYOM2	8	2040194	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09		2040194	144323828	58	40976											
USP17L2	377630	genome.wustl.edu	37	chr8	11995473	11995473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtgtgtaaagttaacGtcttggaggccggcgccctc	9	9	13	10	3	1	1	0	0	1	1	2	2	1	2	2	3	1	2	2	3	4	3	rs374048343		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr8:11995473G>T	ENST00000333796.3	-	1	1113	c.797C>A	c.(796-798)aCg>aAg	p.T266K	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	266	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T266M(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TAAAGTTAACGTCTTGGAGGC	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											25	29	27					8																	11995473		1124	2642	3766	SO:0001583	missense	0			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.797C>A	8.37:g.11995473G>T	ENSP00000333329:p.Thr266Lys			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.T266K	ENST00000333796.3	37	c.797	CCDS43713.1	8	.	.	.	.	.	.	.	.	.	.	G	2.516	-0.311843	0.05422	.	.	ENSG00000223443	ENST00000333796	T	0.28454	1.61	0.745	-0.335	0.12662	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.450195	0.19120	N	0.122213	T	0.12433	0.0302	N	0.05306	-0.075	0.09310	N	1	B	0.18968	0.032	B	0.30401	0.115	T	0.24764	-1.0151	10	0.23891	T	0.37	.	3.3559	0.07169	0.3198:0.0:0.6802:0.0	.	266	Q6R6M4	U17L2_HUMAN	K	266	ENSP00000333329:T266K	ENSP00000333329:T266K	T	-	2	0	USP17L2	12032882	0.026000	0.19158	0.006000	0.13384	0.003000	0.03518	-0.084000	0.11268	-0.078000	0.12730	-0.365000	0.07479	ACG	USP17L2	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000223443		0.488	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2		0	130	0	G	NM_201402		11995473	-1			no_errors	ENST00000333796	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.005	T	T	11995473	G	T	11995473	3	4	161	1	0	0	0	0	1	0	0	0	17097	1145	40	2	799	2	USP17L2	8	11995473	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	9955279	11995473	134368549	59	40977											
DCAF4L2	138009	genome.wustl.edu	37	chr8	88885799	88885799	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatccaagtgattcagtGaggcccagcacatagaattc	13	8	11	9	0	1	3	1	2	0	1	3	4	2	4	2	2	1	1	2	2	4	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr8:88885799G>T	ENST00000319675.3	-	1	497	c.401C>A	c.(400-402)tCa>tAa	p.S134*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	134										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GTGATTCAGTGAGGCCCAGCA	0.557																																																	0													107	100	103					8																	88885799		2203	4300	6503	SO:0001587	stop_gained	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.401C>A	8.37:g.88885799G>T	ENSP00000316496:p.Ser134*			Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S134*	ENST00000319675.3	37	c.401	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681632	0.47991	.	.	ENSG00000176566	ENST00000319675	.	.	.	0.86	-1.72	0.08107	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.938	0.03341	0.4269:0.0:0.3083:0.2648	.	.	.	.	X	134	.	ENSP00000316496:S134X	S	-	2	0	DCAF4L2	88954915	1.000000	0.71417	0.001000	0.08648	0.006000	0.05464	3.933000	0.56545	-0.732000	0.04856	-0.518000	0.04402	TCA	DCAF4L2	-	superfamily_WD40_repeat_dom	ENSG00000176566		0.557	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1		0	46	0	G	NM_152418		88885799	-1			no_errors	ENST00000319675	ensembl	human	known	74_37	nonsense	8.70	21	2	SNP	0.842	T	T	88885799	G	T	88885799	4	4	161	1	0	0	0	0	0	1	0	0	4281	1294	45	3	790	3	DCAF4L2	8	88885799	Nonsense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	76890326	88885799	57478223	60	40978											
VPS13B	157680	genome.wustl.edu	37	chr8	100533161	100533161	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaagacactgtggttttGaagattggctctgttgccat	11	13	11	6	0	1	4	0	1	1	3	1	4	1	4	1	2	1	3	1	2	3	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr8:100533161G>C	ENST00000358544.2	+	30	4854	c.4743G>C	c.(4741-4743)ttG>ttC	p.L1581F	VPS13B_ENST00000357162.2_Missense_Mutation_p.L1556F|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1581					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)			CTGTGGTTTTGAAGATTGGCT	0.408																																					Colon(161;2205 2542 7338 31318)												0													144	130	134					8																	100533161		2203	4300	6503	SO:0001583	missense	0			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.4743G>C	8.37:g.100533161G>C	ENSP00000351346:p.Leu1581Phe		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.L1581F	ENST00000358544.2	37	c.4743	CCDS6280.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.74|12.74	2.029736|2.029736	0.35797|0.35797	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000357162;ENST00000358544|ENST00000521559	T;T|.	0.74315|.	-0.83;-0.83|.	5.65|5.65	2.89|2.89	0.33648|0.33648	.|.	0.092160|.	0.44097|.	D|.	0.000491|.	T|.	0.56232|.	0.1971|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.992;0.986|.	P;P|.	0.59546|.	0.859;0.796|.	T|.	0.50558|.	-0.8814|.	10|.	0.59425|.	D|.	0.04|.	.|.	3.049|3.049	0.06162|0.06162	0.2467:0.1126:0.525:0.1157|0.2467:0.1126:0.525:0.1157	.|.	1556;1581|.	Q7Z7G8-2;Q7Z7G8|.	.;VP13B_HUMAN|.	F|S	1556;1581|12	ENSP00000349685:L1556F;ENSP00000351346:L1581F|.	ENSP00000349685:L1556F|.	L|X	+|+	3|2	2|2	VPS13B|VPS13B	100602337|100602337	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	0.487000|0.487000	0.22356|0.22356	0.315000|0.315000	0.23110|0.23110	0.557000|0.557000	0.71058|0.71058	TTG|TGA	VPS13B	-	NULL	ENSG00000132549		0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	-	0	93	0	G	NM_184042		100533161	1	tier1	-	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	65.96	16	31	SNP	0.984	C	C	100533161	G	C	100533161	3	2	161	1	0	0	0	0	1	0	0	0	17239	1281	45	5	5051	5	VPS13B	8	100533161	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	11647362	100533161	45830861	61	40979											
HEATR7A	727957	genome.wustl.edu	37	chr8	145247236	145247236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggccagatcctcgaggcaGctgtgagtgtgggcagccgc	6	7	17	11	2	0	2	0	1	0	1	2	3	1	2	3	3	2	3	3	3	0	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr8:145247236G>T	ENST00000528919.1	+	9	1001	c.880G>T	c.(880-882)Gct>Tct	p.A294S	MROH1_ENST00000423230.2_Missense_Mutation_p.A294S|MROH1_ENST00000398656.4_Missense_Mutation_p.A294S|MROH1_ENST00000534366.1_Missense_Mutation_p.A294S|MROH1_ENST00000326134.5_Missense_Mutation_p.A294S	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	294																	CCTCGAGGCAGCTGTGAGTGT	0.662																																																	0													20	26	24					8																	145247236		2052	4201	6253	SO:0001583	missense	0				CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"maestro heat-like repeat containing"	26958	protein-coding gene	gene with protein product			"HEAT repeat containing 7A"	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.880G>T	8.37:g.145247236G>T	ENSP00000435565:p.Ala294Ser		C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A294S	ENST00000528919.1	37	c.880	CCDS47938.1	8	.	.	.	.	.	.	.	.	.	.	G	8.317	0.823536	0.16678	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	T;T;T;T;T	0.78364	-0.15;-1.17;-1.17;-1.17;-1.17	5.25	3.26	0.37387	Armadillo-like helical (1);Armadillo-type fold (1);	0.080992	0.50627	U	0.000105	T	0.52075	0.1712	N	0.11064	0.09	0.80722	D	1	B;P;P;B;P	0.43750	0.204;0.816;0.816;0.184;0.708	B;B;B;B;B	0.36534	0.084;0.152;0.152;0.172;0.227	T	0.47898	-0.9081	10	0.20519	T	0.43	.	7.3655	0.26770	0.0968:0.0:0.7025:0.2007	.	294;294;294;294;294	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4;Q8NDA8-5	.;.;HTR7A_HUMAN;.;.	S	294;294;294;294;294;226	ENSP00000388174:A294S;ENSP00000381649:A294S;ENSP00000436636:A294S;ENSP00000435565:A294S;ENSP00000321737:A294S	ENSP00000321737:A294S	A	+	1	0	HEATR7A	145319224	0.811000	0.29063	0.026000	0.17262	0.368000	0.29767	1.478000	0.35442	1.218000	0.43458	0.563000	0.77884	GCT	MROH1	-	superfamily_ARM-type_fold	ENSG00000179832		0.662	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MROH1	HGNC	protein_coding	OTTHUMT00000386183.1	-	0	72	0	G	NM_032450		145247236	1	tier1	-	no_errors	ENST00000326134	ensembl	human	known	74_37	missense	20.75	42	11	SNP	0.540	T	T	145247236	G	T	145247236	3	4	161	1	0	0	0	0	1	0	0	0	7061	971	34	3	910	3	HEATR7A	8	145247236	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	44714075	145247236	1116786	62	40980											
PTPRD	5789	genome.wustl.edu	37	chr9	8341759	8341759	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcagcttctgaatgtaGgcatacaagtttctagctgg	9	14	11	7	0	3	1	1	1	2	0	3	1	3	1	0	2	3	5	0	2	5	5			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr9:8341759G>T	ENST00000381196.4	-	37	5424	c.4881C>A	c.(4879-4881)gcC>gcA	p.A1627A	PTPRD_ENST00000358503.5_Silent_p.A1605A|PTPRD_ENST00000355233.5_Silent_p.A1221A|PTPRD_ENST00000486161.1_Silent_p.A1220A|PTPRD_ENST00000397617.3_Silent_p.A1220A|PTPRD_ENST00000540109.1_Silent_p.A1627A|PTPRD_ENST00000397606.3_Silent_p.A1220A|PTPRD_ENST00000397611.3_Silent_p.A1217A|PTPRD_ENST00000537002.1_Silent_p.A1217A|PTPRD_ENST00000360074.4_Silent_p.A1614A|PTPRD_ENST00000356435.5_Silent_p.A1627A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1627					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)		TCTGAATGTAGGCATACAAGT	0.408										TSP Lung(15;0.13)																																							0													304	278	287					9																	8341759		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4881C>A	9.37:g.8341759G>T			B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.A1627	ENST00000381196.4	37	c.4881	CCDS43786.1	9																																																																																			PTPRD	-	NULL	ENSG00000153707		0.408	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3		0	64	0	G			8341759	-1			no_errors	ENST00000356435	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	T	T	8341759	G	T	8341759	2	4	161	1	0	0	0	0	0	0	0	1	12844	987	35	3		3	PTPRD	9	8341759	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09		8341759	132871672	63	40981											
TTC39B	158219	genome.wustl.edu	37	chr9	15211356	15211356	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcctgcaacaccacaatGgtactgtagcccaaggcatg	13	6	9	13	0	0	0	0	0	0	0	0	0	0	0	3	2	5	4	3	2	5	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr9:15211356G>T	ENST00000512701.2	-	5	558	c.522C>A	c.(520-522)acC>acA	p.T174T	TTC39B_ENST00000355694.2_Silent_p.T108T|TTC39B_ENST00000507285.1_Silent_p.T9T|TTC39B_ENST00000380850.4_Silent_p.T174T|TTC39B_ENST00000541445.1_Silent_p.T108T|TTC39B_ENST00000297615.5_Silent_p.T105T|TTC39B_ENST00000582994.1_5'Flank|TTC39B_ENST00000507993.1_Silent_p.T9T			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	174										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ACACCACAATGGTACTGTAGC	0.453																																																	0													148	126	134					9																	15211356		2203	4300	6503	SO:0001819	synonymous_variant	0			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.522C>A	9.37:g.15211356G>T			A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.T174	ENST00000512701.2	37	c.522	CCDS6477.2	9																																																																																			TTC39B	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000155158		0.453	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	HGNC	protein_coding	OTTHUMT00000051758.3	-	0	47	0	G	NM_152574		15211356	-1	tier1	-	no_errors	ENST00000512701	ensembl	human	known	74_37	silent	14.71	29	5	SNP	1.000	T	T	15211356	G	T	15211356	2	4	161	1	0	0	0	0	0	0	0	1	16757	1335	47	3		3	TTC39B	9	15211356	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	6869597	15211356	126002075	64	40982											
FAM154A	158297	genome.wustl.edu	37	chr9	18928887	18928887	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaaggggatgttacaGagctttggcatggccagagg	9	9	14	9	0	0	2	0	0	0	2	2	3	2	3	3	5	2	3	3	5	2	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr9:18928887G>T	ENST00000380534.4	-	4	867	c.588C>A	c.(586-588)ctC>ctA	p.L196L	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Silent_p.L4L	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	196										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)		GGATGTTACAGAGCTTTGGCA	0.498																																																	0													134	132	132					9																	18928887		2203	4300	6503	SO:0001819	synonymous_variant	0			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.588C>A	9.37:g.18928887G>T			Q5VY58	Silent	SNP	NULL	p.L196	ENST00000380534.4	37	c.588	CCDS6487.1	9																																																																																			FAM154A	-	NULL	ENSG00000155875		0.498	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM154A	HGNC	protein_coding	OTTHUMT00000051811.1	-	0	80	0	G	NM_153707		18928887	-1	tier1	-	no_errors	ENST00000380534	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.005	T	T	18928887	G	T	18928887	2	4	161	1	0	0	0	0	0	0	0	1	5482	929	33	3		3	FAM154A	9	18928887	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	3717531	18928887	122284544	65	40983											
KLHL9	55958	genome.wustl.edu	37	chr9	21333629	21333629	+	Silent	SNP	A	A	G	1	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	tctactgtggccagttcaccAgctgcactgcgcccaccaac	8	8	8	17	1	2	0	1	0	1	0	2	0	2	0	4	1	5	3	4	1	2	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr9:21333629A>G	ENST00000359039.4	-	1	1750	c.1230T>C	c.(1228-1230)gcT>gcC	p.A410A	KLHL9_ENST00000537938.1_Silent_p.A342A			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	410					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.A410A(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CCAGTTCACCAGCTGCACTGC	0.443																																																	1	Substitution - coding silent(1)	ovary(1)											112	101	105					9																	21333629		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1230T>C	9.37:g.21333629A>G			Q8TCQ2	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A410	ENST00000359039.4	37	c.1230	CCDS6503.1	9																																																																																			KLHL9	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000198642		0.443	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL9	HGNC	protein_coding	OTTHUMT00000051898.2		0	59	0	A	NM_018847		21333629	-1			no_errors	ENST00000359039	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	G	G	21333629	A	G	21333629	2	3	161	1	0	0	0	0	0	0	0	1	8423	175	7	4		4	KLHL9	9	21333629	Silent	SNP	A	TCGA-VR-A8EO-01A-11D-A36J-09	2404742	21333629	119879802	66	40984											
TRPM6	140803	genome.wustl.edu	37	chr9	77416992	77416992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagcccaaaccagcaGgtcattgtaagggtaaagaa	16	5	10	10	0	1	1	1	0	0	1	1	1	1	1	2	2	4	4	2	2	5	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr9:77416992G>T	ENST00000360774.1	-	16	2068	c.1831C>A	c.(1831-1833)Ctg>Atg	p.L611M	TRPM6_ENST00000451710.3_Missense_Mutation_p.L611M|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.L611M|TRPM6_ENST00000376872.3_Intron|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000361255.3_Missense_Mutation_p.L606M|TRPM6_ENST00000449912.2_Missense_Mutation_p.L606M	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	611					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						CAAACCAGCAGGTCATTGTAA	0.448																																																	0													116	93	101					9																	77416992		2203	4300	6503	SO:0001583	missense	0			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.1831C>A	9.37:g.77416992G>T	ENSP00000354006:p.Leu611Met		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.L611M	ENST00000360774.1	37	c.1831	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623069	0.66901	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.28	3.08	0.35506	.	0.000000	0.85682	D	0.000000	D	0.86892	0.6042	M	0.88181	2.935	0.43321	D	0.99534	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.88966	0.3397	10	0.87932	D	0	.	12.4838	0.55859	0.1599:0.0:0.8401:0.0	.	611;606	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	M	611;611;606;606;611;274;274	ENSP00000354006:L611M;ENSP00000407341:L611M;ENSP00000396672:L606M;ENSP00000354962:L606M;ENSP00000366060:L611M	ENSP00000309693:L274M	L	-	1	2	TRPM6	76606812	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.959000	0.56744	1.222000	0.43521	0.585000	0.79938	CTG	TRPM6	-	NULL	ENSG00000119121		0.448	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	-	0	37	0	G	NM_017662		77416992	-1	tier1	-	no_errors	ENST00000451710	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	77416992	G	T	77416992	3	4	161	1	0	0	0	0	1	0	0	0	16638	991	35	3	4333	3	TRPM6	9	77416992	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	56083363	77416992	63796439	67	40985											
ZNF462	58499	genome.wustl.edu	37	chr9	109687209	109687209	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcagcttccaagttttCgcccatgtcttaccctcaga	7	15	5	14	1	4	1	2	0	2	1	6	1	5	1	3	0	2	2	3	0	2	6			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr9:109687209C>A	ENST00000277225.5	+	3	1305	c.1016C>A	c.(1015-1017)tCg>tAg	p.S339*	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Nonsense_Mutation_p.S339*			Q96JM2	ZN462_HUMAN	zinc finger protein 462	339					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						TCCAAGTTTTCGCCCATGTCT	0.483																																																	0													75	70	72					9																	109687209		2203	4300	6503	SO:0001587	stop_gained	0			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.1016C>A	9.37:g.109687209C>A	ENSP00000277225:p.Ser339*		Q5T0T4|Q8N408	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S339*	ENST00000277225.5	37	c.1016	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	C	38	7.091637	0.98059	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	.	.	.	5.91	5.91	0.95273	.	0.193777	0.47093	D	0.000251	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4858	0.90828	0.0:1.0:0.0:0.0	.	.	.	.	X	339	.	.	S	+	2	0	ZNF462	108727030	0.999000	0.42202	0.984000	0.44739	0.958000	0.62258	5.314000	0.65804	2.808000	0.96608	0.655000	0.94253	TCG	ZNF462	-	NULL	ENSG00000148143		0.483	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2		0	38	0	C	NM_021224		109687209	1			no_errors	ENST00000457913	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	1.000	A	A	109687209	C	A	109687209	4	1	161	1	0	0	0	0	0	1	0	0	17974	893	31	2	1022	2	ZNF462	9	109687209	Nonsense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	32270217	109687209	31526222	68	40986											
PRPF4	9128	genome.wustl.edu	37	chr9	116050502	116050502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatacagtgcgtgtggcgcGggtaatgtggcatccttcag	7	10	14	10	3	1	0	1	0	0	0	2	0	2	0	2	3	2	2	2	3	2	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr9:116050502G>T	ENST00000374198.4	+	10	1085	c.983G>T	c.(982-984)cGg>cTg	p.R328L	PRPF4_ENST00000374199.4_Missense_Mutation_p.R327L	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	328					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CGTGTGGCGCGGGTAATGTGG	0.433																																																	0													141	114	123					9																	116050502		2203	4300	6503	SO:0001583	missense	0			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.983G>T	9.37:g.116050502G>T	ENSP00000363313:p.Arg328Leu		O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R328L	ENST00000374198.4	37	c.983	CCDS6791.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.431690	0.96150	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.60040	0.22;0.22	5.86	5.86	0.93980	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	0.73393	0.3581	L	0.58510	1.815	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.978	T	0.74535	-0.3633	10	0.87932	D	0	.	17.3511	0.87324	0.0:0.0:1.0:0.0	.	343;328	Q59EL4;O43172	.;PRP4_HUMAN	L	327;328	ENSP00000363315:R327L;ENSP00000363313:R328L	ENSP00000363313:R328L	R	+	2	0	PRPF4	115090323	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	9.246000	0.95438	2.780000	0.95670	0.585000	0.79938	CGG	PRPF4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000136875		0.433	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRPF4	HGNC	protein_coding	OTTHUMT00000053708.2		0	83	0	G	NM_004697		116050502	1			no_errors	ENST00000374198	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	116050502	G	T	116050502	3	4	161	1	0	0	0	0	1	0	0	0	12612	1116	39	2	1021	2	PRPF4	9	116050502	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	6363293	116050502	25162929	69	40987											
PAPPA	5069	genome.wustl.edu	37	chr9	118949925	118949925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggtcccccatgaaggatgGcagcagccccaaagtggaat	11	6	12	12	0	0	1	0	1	0	0	1	3	1	3	4	4	2	2	4	4	3	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr9:118949925G>T	ENST00000328252.3	+	2	1277	c.908G>T	c.(907-909)gGc>gTc	p.G303V	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	303	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATGAAGGATGGCAGCAGCCCC	0.567																																																	0													89	82	84					9																	118949925		2203	4300	6503	SO:0001583	missense	0				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.908G>T	9.37:g.118949925G>T	ENSP00000330658:p.Gly303Val		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.G303V	ENST00000328252.3	37	c.908	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284401	0.59867	.	.	ENSG00000182752	ENST00000328252	T	0.01947	4.54	6.07	6.07	0.98685	.	0.043842	0.85682	D	0.000000	T	0.13286	0.0322	M	0.80746	2.51	0.80722	D	1	D	0.62365	0.991	P	0.59357	0.856	T	0.00009	-1.2470	10	0.72032	D	0.01	-27.9492	20.6439	0.99570	0.0:0.0:1.0:0.0	.	303	Q13219	PAPP1_HUMAN	V	303	ENSP00000330658:G303V	ENSP00000330658:G303V	G	+	2	0	PAPPA	117989746	1.000000	0.71417	0.325000	0.25375	0.331000	0.28603	9.827000	0.99397	2.884000	0.98904	0.655000	0.94253	GGC	PAPPA	-	NULL	ENSG00000182752		0.567	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	-	0	28	0	G	NM_002581		118949925	1	tier1	-	no_errors	ENST00000328252	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	T	T	118949925	G	T	118949925	3	4	161	1	0	0	0	0	1	0	0	0	11471	1203	42	3	914	3	PAPPA	9	118949925	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	2899423	118949925	22263506	70	40988											
SLC25A25	114789	genome.wustl.edu	37	chr9	130864648	130864648	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctcgcctctgtcttgcaGcatggataaaaacggcacga	11	8	10	12	3	2	0	0	0	2	0	3	2	2	1	2	2	4	3	2	2	3	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr9:130864648G>T	ENST00000373064.5	+	4	637		c.e4-1		SLC25A25_ENST00000432073.2_Splice_Site|SLC25A25_ENST00000373066.5_Splice_Site|SLC25A25_ENST00000433501.1_Splice_Site|SLC25A25_ENST00000373068.2_Splice_Site|SLC25A25_ENST00000373069.5_Splice_Site	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25						adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						CTGTCTTGCAGCATGGATAAA	0.602																																																	0													163	106	126					9																	130864648		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.375-1G>T	9.37:g.130864648G>T			Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Splice_Site	SNP	-	e5-1	ENST00000373064.5	37	c.513-1	CCDS6890.1	9	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311473	0.81358	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7705	0.91890	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A25	129904469	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.869000	0.99810	2.677000	0.91161	0.561000	0.74099	.	SLC25A25	-	-	ENSG00000148339		0.602	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A25	HGNC	protein_coding	OTTHUMT00000054407.1	-	0	40	0	G	NM_052901	Intron	130864648	1	tier1	-	no_errors	ENST00000373069	ensembl	human	known	74_37	splice_site	13.64	19	3	SNP	1.000	T	T	130864648	G	T	130864648	5	4	161	1	0	0	0	0	0	0	1	0	14533	985	34	3	876	3	SLC25A25	9	130864648	Splice_Site	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	11914723	130864648	10348783	71	40989											
ENDOG	2021	genome.wustl.edu	37	chr9	131584886	131584886	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gccatcacggcgggcagtaaGtgagggtggagcccagtgag	9	5	18	9	2	1	2	1	2	0	0	1	3	1	3	2	4	1	2	2	4	1	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr9:131584886G>T	ENST00000372642.4	+	3	1102	c.891G>T	c.(889-891)aaG>aaT	p.K297N	C9orf114_ENST00000361256.5_3'UTR	NM_004435.2	NP_004426.2	Q14249	NUCG_HUMAN	endonuclease G	297					apoptotic DNA fragmentation (GO:0006309)|DNA recombination (GO:0006310)|in utero embryonic development (GO:0001701)|positive regulation of apoptotic process (GO:0043065)|response to antibiotic (GO:0046677)|response to tumor necrosis factor (GO:0034612)	mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|nucleic acid binding (GO:0003676)										CGGGCAGTAAGTGAGGGTGGA	0.607																																																	0													22	19	20					9																	131584886		2172	4278	6450	SO:0001583	missense	0			X79444	CCDS6912.1	9q34.1	2008-06-04			ENSG00000167136	ENSG00000167136			3346	protein-coding gene	gene with protein product		600440				7789991	Standard	NM_004435		Approved		uc004bwc.3	Q14249	OTTHUMG00000020763	ENST00000372642.4:c.891G>T	9.37:g.131584886G>T	ENSP00000361725:p.Lys297Asn		Q5T281|Q9BSP2	Missense_Mutation	SNP	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	p.K297N	ENST00000372642.4	37	c.891	CCDS6912.1	9	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507279	0.44558	.	.	ENSG00000167136	ENST00000372642	T	0.34667	1.35	5.44	5.44	0.79542	.	0.000000	0.46758	D	0.000267	T	0.33614	0.0869	L	0.36672	1.1	0.80722	D	1	B	0.26635	0.155	B	0.28139	0.086	T	0.14559	-1.0468	10	0.72032	D	0.01	.	16.4141	0.83728	0.0:0.0:1.0:0.0	.	297	Q14249	NUCG_HUMAN	N	297	ENSP00000361725:K297N	ENSP00000361725:K297N	K	+	3	2	ENDOG	130624707	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	1.692000	0.37731	2.547000	0.85894	0.455000	0.32223	AAG	ENDOG	-	NULL	ENSG00000167136		0.607	ENDOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENDOG	HGNC	protein_coding	OTTHUMT00000054505.1	-	0	80	0	G	NM_004435		131584886	1	tier1	-	no_errors	ENST00000372642	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	131584886	G	T	131584886	3	4	161	1	0	0	0	0	1	0	0	0	5131	1020	36	3	901	3	ENDOG	9	131584886	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	720238	131584886	9628545	72	40990											
C9orf106	414318	genome.wustl.edu	37	chr9	132084746	132084746	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttctgcctgtccatccctgGccttttccctgtgctgtctg	1	16	9	15	0	2	0	0	0	2	0	5	0	5	0	5	1	2	2	5	1	0	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr9:132084746G>A	ENST00000316786.1	+	0	707							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				TCCATCCCTGGCCTTTTCCCT	0.577																																																	0													69	76	74					9																	132084746		1990	4158	6148			0			AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		9.37:g.132084746G>A				RNA	SNP	-	NULL	ENST00000316786.1	37	NULL		9																																																																																			C9orf106	-	-	ENSG00000179082		0.577	C9orf106-001	KNOWN	basic	processed_transcript	C9orf106	HGNC	processed_transcript	OTTHUMT00000054576.2	-	0	56	0	G			132084746	1	tier1	-	no_errors	ENST00000316786	ensembl	human	known	74_37	rna	12.90	27	4	SNP	0.002	A	A	132084746	G	A	132084746	1	1	161	0	1	0	0	0	0	0	0	0	2454	1212	42	3		3	C9orf106	9	132084746	RNA	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	499860	132084746	9128685	73	40991											
RASSF4	83937	genome.wustl.edu	37	chr10	45480350	45480351	+	Frame_Shift_Ins	INS	-	-	C																															gaggaggcccaagtgccgcgINScccccggtgaggcccagcgc																								rs35924448	byFrequency	TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr10:45480350_45480351insC	ENST00000340258.5	+	6	576_577	c.463_464insC	c.(463-465)gccfs	p.A155fs	RASSF4_ENST00000334940.6_Frame_Shift_Ins_p.A164fs|RASSF4_ENST00000374417.2_Frame_Shift_Ins_p.RP124fs|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	295	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CAAGTGCCGCGCCCCCGGTGAG	0.663																																																	0																																										SO:0001589	frameshift_variant	0			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.468dupC	10.37:g.45480355_45480355dupC	ENSP00000339692:p.Ala155fs		Q00425|Q5TFT8|Q9BQL3|Q9H071	Frame_Shift_Ins	INS	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom	p.G166fs	ENST00000340258.5	37	c.490_491	CCDS7208.1	10																																																																																			RASSF4	-	NULL	ENSG00000107551		0.663	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF4	HGNC	protein_coding	OTTHUMT00000047745.2		0	30	0	-	NM_032023		45480351	1	tier1		no_errors	ENST00000334940	ensembl	human	known	74_37	frame_shift_ins	33.33	24	12	INS	0.000:0.000	C	C	45480351	-	C	45480350	7	5	161	1	0	1	1	0	0	0	0	0	13133	1087	38	0	481	0	RASSF4	10	45480350	Frame_Shift_Ins	INS	-	TCGA-VR-A8EO-01A-11D-A36J-09		45480350	90054397	74	40992											
ZNF22	7570	genome.wustl.edu	37	chr10	45498900	45498900	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacaagcgcaaaacaggccgGcagcggcagaagtggggcat	14	2	15	10	3	0	1	0	0	0	1	0	1	0	1	1	5	4	4	1	5	5	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr10:45498900G>T	ENST00000298299.3	+	2	677	c.84G>T	c.(82-84)cgG>cgT	p.R28R	C10orf25_ENST00000298298.1_5'Flank|CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	28					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)				AAACAGGCCGGCAGCGGCAGA	0.458																																																	0													63	66	65					10																	45498900		2203	4300	6503	SO:0001819	synonymous_variant	0			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.84G>T	10.37:g.45498900G>T			Q5T741|Q96FM4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R28	ENST00000298299.3	37	c.84	CCDS7211.1	10																																																																																			ZNF22	-	NULL	ENSG00000165512		0.458	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF22	HGNC	protein_coding	OTTHUMT00000047761.1		0	55	0	G	NM_006963		45498900	1			no_errors	ENST00000298299	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.679	T	T	45498900	G	T	45498900	2	4	161	1	0	0	0	0	0	0	0	1	17822	1190	42	3		3	ZNF22	10	45498900	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	18550	45498900	90035847	75	40993											
FRMPD2	143162	genome.wustl.edu	37	chr10	49392645	49392645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattaattctatgttgtcagGggaattctggatcatcctaa	12	15	8	6	0	4	0	2	0	2	0	5	2	5	2	1	3	0	1	1	3	5	6			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr10:49392645G>T	ENST00000374201.3	-	20	2850	c.2548C>A	c.(2548-2550)Cct>Act	p.P850T	FRMPD2_ENST00000407470.4_Missense_Mutation_p.P818T|FRMPD2_ENST00000305531.3_Missense_Mutation_p.P825T	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	850	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATGTTGTCAGGGGAATTCTGG	0.413																																																	0													104	100	102					10																	49392645		2203	4300	6503	SO:0001583	missense	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2548C>A	10.37:g.49392645G>T	ENSP00000363317:p.Pro850Thr		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.P850T	ENST00000374201.3	37	c.2548	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241166	0.58995	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.39229	1.09;1.09;1.09	5.01	4.09	0.47781	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.57858	0.2082	L	0.53780	1.695	0.35220	D	0.775912	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.78314	0.974;0.991;0.974	T	0.68345	-0.5433	9	0.56958	D	0.05	.	12.744	0.57270	0.0:0.165:0.835:0.0	.	825;850;818	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	T	850;825;818	ENSP00000363317:P850T;ENSP00000307079:P825T;ENSP00000384339:P818T	ENSP00000307079:P825T	P	-	1	0	FRMPD2	49062651	1.000000	0.71417	0.969000	0.41365	0.625000	0.37756	5.986000	0.70563	1.075000	0.40932	0.655000	0.94253	CCT	FRMPD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000170324		0.413	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3		0	71	0	G	NM_152428		49392645	-1			no_errors	ENST00000374201	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	49392645	G	T	49392645	3	4	161	1	0	0	0	0	1	0	0	0	6082	1232	43	3	1421	3	FRMPD2	10	49392645	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	3893745	49392645	86142102	76	40994											
ANK3	288	genome.wustl.edu	37	chr10	61834479	61834479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatccttctttgcatcctCaaacttgtattttaagtttg	9	18	4	10	0	2	0	1	0	1	0	4	0	4	0	3	0	2	3	3	0	3	7			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr10:61834479C>T	ENST00000280772.2	-	37	6351	c.6160G>A	c.(6160-6162)Gag>Aag	p.E2054K	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)	2054					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						TTTGCATCCTCAAACTTGTAT	0.388																																																	0													112	107	109					10																	61834479		2203	4300	6503	SO:0001583	missense	0			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.6160G>A	10.37:g.61834479C>T	ENSP00000280772:p.Glu2054Lys		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.E2054K	ENST00000280772.2	37	c.6160	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408293	0.62399	.	.	ENSG00000151150	ENST00000280772	T	0.57595	0.39	5.8	5.8	0.92144	.	0.000000	0.42548	D	0.000700	T	0.49626	0.1568	L	0.53249	1.67	0.80722	D	1	P	0.43094	0.799	B	0.35931	0.214	T	0.50259	-0.8849	10	0.36615	T	0.2	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	2054	Q12955	ANK3_HUMAN	K	2054	ENSP00000280772:E2054K	ENSP00000280772:E2054K	E	-	1	0	ANK3	61504485	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.930000	0.63462	2.755000	0.94549	0.655000	0.94253	GAG	ANK3	-	NULL	ENSG00000151150		0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0	54	0	C	NM_020987		61834479	-1			no_errors	ENST00000280772	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	61834479	C	T	61834479	3	4	161	1	0	0	0	0	1	0	0	0	622	835	29	3	7314	3	ANK3	10	61834479	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	12441834	61834479	73700268	77	40995											
TNKS2	80351	genome.wustl.edu	37	chr10	93576936	93576936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaccatccgaaatacagatgGaaggacagcattggatttag	16	8	10	7	1	0	1	0	0	0	1	1	5	1	4	2	3	3	1	2	3	5	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr10:93576936G>T	ENST00000371627.4	+	3	849	c.470G>T	c.(469-471)gGa>gTa	p.G157V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	157					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G157V(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AATACAGATGGAAGGACAGCA	0.408																																																	1	Substitution - Missense(1)	lung(1)											97	78	84					10																	93576936		2203	4300	6503	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.470G>T	10.37:g.93576936G>T	ENSP00000360689:p.Gly157Val		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.G157V	ENST00000371627.4	37	c.470	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.179229	0.94846	.	.	ENSG00000107854	ENST00000371627	T	0.26373	1.74	5.69	5.69	0.88448	Ankyrin repeat-containing domain (3);	0.000000	0.52532	D	0.000070	T	0.51652	0.1687	M	0.78049	2.395	0.80722	D	1	D	0.67145	0.996	P	0.59595	0.86	T	0.54583	-0.8272	10	0.87932	D	0	.	19.8154	0.96566	0.0:0.0:1.0:0.0	.	157	Q9H2K2	TNKS2_HUMAN	V	157	ENSP00000360689:G157V	ENSP00000360689:G157V	G	+	2	0	TNKS2	93566916	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.835000	0.99442	2.699000	0.92147	0.655000	0.94253	GGA	TNKS2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107854		0.408	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1		0	46	0	G	NM_025235		93576936	1			no_errors	ENST00000371627	ensembl	human	known	74_37	missense	5.00	37	2	SNP	1.000	T	T	93576936	G	T	93576936	3	4	161	1	0	0	0	0	1	0	0	0	16368	1174	41	3	480	3	TNKS2	10	93576936	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	31742457	93576936	41957811	78	40996											
CHUK	1147	genome.wustl.edu	37	chr10	101964869	101964871	+	In_Frame_Del	DEL	TCT	TCT	-																															cctgaaagagcctgctatagTcttcttttagtccagacaca																										TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr10:101964869_101964871delTCT	ENST00000370397.7	-	12	1403_1405	c.1317_1319delAGA	c.(1315-1320)gaagac>gac	p.E439del		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	439					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)	CCTGCTATAGTCTTCTTTTAGTC	0.394																																					Ovarian(159;52 1904 10536 35305 37148)												0																																										SO:0001651	inframe_deletion	0			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.1317_1319delAGA	10.37:g.101964872_101964874delTCT	ENSP00000359424:p.Glu439del		O14666|Q13132|Q5W0I4|Q92467	In_Frame_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E439in_frame_del	ENST00000370397.7	37	c.1319_1317	CCDS7488.1	10																																																																																			CHUK	-	NULL	ENSG00000213341		0.394	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1		0	80	0	TCT	NM_001278		101964871	-1	tier1		no_errors	ENST00000370397	ensembl	human	known	74_37	in_frame_del	29.27	58	24	DEL	1.000:1.000:0.999	-	-	101964871	TCT	-	101964869	7	5	161	1	0	1	0	1	0	0	0	0	3423	1667	58	0	958	0	CHUK	10	101964869	In_Frame_Del	DEL	TCT	TCGA-VR-A8EO-01A-11D-A36J-09	8387933	101964869	33569878	79	40997											
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118203905	118203905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgccaggtgttgctacaGctggaagatataaattgcat	11	13	11	6	0	0	1	0	0	0	1	0	2	0	2	1	2	5	4	1	2	5	6			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr10:118203905G>T	ENST00000369230.3	+	4	482	c.336G>T	c.(334-336)caG>caT	p.Q112H		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	112					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TGTTGCTACAGCTGGAAGATA	0.358																																																	0													88	83	84					10																	118203905		2203	4300	6503	SO:0001583	missense	0			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.336G>T	10.37:g.118203905G>T	ENSP00000358232:p.Gln112His			Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.Q112H	ENST00000369230.3	37	c.336	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509373	0.27036	.	.	ENSG00000203837	ENST00000369230	D	0.91237	-2.81	5.28	2.92	0.33932	Lipase, N-terminal (1);	0.507607	0.16803	N	0.198887	D	0.84822	0.5557	L	0.43598	1.365	0.09310	N	1	B	0.21688	0.059	B	0.24974	0.057	T	0.73883	-0.3842	10	0.45353	T	0.12	.	5.3123	0.15837	0.6826:0.1512:0.1662:0.0	.	112	Q17RR3	LIPR3_HUMAN	H	112	ENSP00000358232:Q112H	ENSP00000358232:Q112H	Q	+	3	2	PNLIPRP3	118193895	0.999000	0.42202	0.003000	0.11579	0.132000	0.20833	1.820000	0.39032	0.394000	0.25230	-0.469000	0.05056	CAG	PNLIPRP3	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc	ENSG00000203837		0.358	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1		0	61	0	G	XM_058404		118203905	1			no_errors	ENST00000369230	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.041	T	T	118203905	G	T	118203905	3	4	161	1	0	0	0	0	1	0	0	0	12191	962	34	3	350	3	PNLIPRP3	10	118203905	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	16239036	118203905	17330842	80	40998											
ANO9	338440	genome.wustl.edu	37	chr11	432006	432006	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcccttaccaccagcCgaggtcttgttgttcatgac	6	11	8	16	1	2	1	1	1	1	0	2	2	2	1	6	1	3	2	6	1	1	4	rs552399217	byFrequency	TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr11:432006C>T	ENST00000332826.6	-	5	483	c.399G>A	c.(397-399)tcG>tcA	p.S133S		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	133					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						TACCACCAGCCGAGGTCTTGT	0.622													C|||	2	0.000399361	0	0	5008	,	,		14733	0.001		0	False		,,,				2504	0.001																0													84	72	76					11																	432006		2203	4299	6502	SO:0001819	synonymous_variant	0			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.399G>A	11.37:g.432006C>T			B3KUC4|B4E134|Q8TEN4	Silent	SNP	pfam_Anoctamin	p.S133	ENST00000332826.6	37	c.399	CCDS31326.1	11																																																																																			ANO9	-	NULL	ENSG00000185101		0.622	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	-	0	75	0	C	NM_001012302		432006	-1	tier1	-	no_errors	ENST00000332826	ensembl	human	known	74_37	silent	16.36	46	9	SNP	0.000	T	T	432006	C	T	432006	2	4	161	1	0	0	0	0	0	0	0	1	704	639	23	1		1	ANO9	11	432006	Silent	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09		432006	134574510	81	40999											
PAX6	5080	genome.wustl.edu	37	chr11	31822342	31822342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagtttatcatacatgccGtctgcgcccatctgttgctt	6	16	7	12	2	3	0	1	0	2	0	3	0	3	0	2	0	4	3	2	0	3	6	rs1800427		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr11:31822342G>A	ENST00000379132.3	-	6	700	c.420C>T	c.(418-420)gaC>gaT	p.D140D	PAX6_ENST00000241001.8_Silent_p.D140D|PAX6_ENST00000379115.4_Silent_p.D154D|PAX6_ENST00000533156.1_5'Flank|PAX6_ENST00000379107.2_Silent_p.D154D|PAX6_ENST00000379123.5_Silent_p.D140D|PAX6_ENST00000379129.2_Silent_p.D154D|PAX6_ENST00000379111.2_Silent_p.D140D|PAX6_ENST00000419022.1_Silent_p.D154D			P26367	PAX6_HUMAN	paired box 6	140	Gln/Gly-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CATACATGCCGTCTGCGCCCA	0.522									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																																								0													154	131	139					11																	31822342		2202	4299	6501	SO:0001819	synonymous_variant	0	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.420C>T	11.37:g.31822342G>A			Q6N006|Q99413	Silent	SNP	pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom	p.D154	ENST00000379132.3	37	c.462	CCDS31451.1	11																																																																																			PAX6	-	NULL	ENSG00000007372		0.522	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX6	HGNC	protein_coding	OTTHUMT00000099293.4	-	0	57	0	G	NM_001604		31822342	-1	tier1	rs1800427	no_errors	ENST00000379107	ensembl	human	known	74_37	silent	22.22	28	8	SNP	1.000	A	A	31822342	G	A	31822342	2	1	161	1	0	0	0	0	0	0	0	1	11522	1136	40	1		1	PAX6	11	31822342	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	31390336	31822342	103184174	82	41000											
IGHMBP2	3508	genome.wustl.edu	37	chr11	68675711	68675711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcggtcacggtggcctttGatgagtcccacgatttccag	7	11	12	11	3	1	2	1	2	0	0	4	3	3	2	3	3	0	0	3	3	0	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr11:68675711G>A	ENST00000255078.3	+	3	466	c.355G>A	c.(355-357)Gat>Aat	p.D119N	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.D119N	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	119					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTGGCCTTTGATGAGTCCCA	0.512																																																	0													135	129	131					11																	68675711		2200	4294	6494	SO:0001583	missense	0			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.355G>A	11.37:g.68675711G>A	ENSP00000255078:p.Asp119Asn		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put	p.D119N	ENST00000255078.3	37	c.355	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.062597	0.93898	.	.	ENSG00000132740	ENST00000255078;ENST00000539224	D;T	0.91631	-2.88;-0.93	4.09	4.09	0.47781	.	0.127194	0.50627	D	0.000104	D	0.92378	0.7581	M	0.83312	2.635	0.58432	D	0.999999	P	0.38167	0.621	B	0.38683	0.279	D	0.93389	0.6750	10	0.54805	T	0.06	1.0E-4	15.2642	0.73649	0.0:0.0:1.0:0.0	.	119	P38935	SMBP2_HUMAN	N	119	ENSP00000255078:D119N;ENSP00000440465:D119N	ENSP00000255078:D119N	D	+	1	0	IGHMBP2	68432287	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.049000	0.93837	2.117000	0.64856	0.549000	0.68633	GAT	IGHMBP2	-	tigrfam_DNA_helicase_put	ENSG00000132740		0.512	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	-	0	84	0	G	NM_002180		68675711	1	tier1	-	no_errors	ENST00000255078	ensembl	human	known	74_37	missense	13.37	635	98	SNP	1.000	A	A	68675711	G	A	68675711	3	1	161	1	0	0	0	0	1	0	0	0	7618	1290	45	3	365	3	IGHMBP2	11	68675711	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	36853369	68675711	66330805	83	41001											
PAAF1	80227	genome.wustl.edu	37	chr11	73602202	73602202	+	Frame_Shift_Del	DEL	T	T	-																															aggaaaatgcatcttctaagTttttggcaccatatactact																										TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr11:73602202delT	ENST00000310571.3	+	4	291	c.238delT	c.(238-240)tttfs	p.F80fs	PAAF1_ENST00000536003.1_Frame_Shift_Del_p.F63fs|PAAF1_ENST00000376384.5_Frame_Shift_Del_p.F63fs|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000544552.1_Frame_Shift_Del_p.F63fs|PAAF1_ENST00000544909.1_Frame_Shift_Del_p.F81fs|PAAF1_ENST00000543079.1_3'UTR	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	80					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)					ATCTTCTAAGTTTTTGGCACC	0.279																																																	0													95	90	92					11																	73602202		2196	4290	6486	SO:0001589	frameshift_variant	0			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.238delT	11.37:g.73602202delT	ENSP00000311665:p.Phe80fs		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L81fs	ENST00000310571.3	37	c.238	CCDS8226.1	11																																																																																			PAAF1	-	smart_WD40_repeat	ENSG00000175575		0.279	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAAF1	HGNC	protein_coding	OTTHUMT00000397885.1		0	40	0	T	NM_025155		73602202	1	tier1		no_errors	ENST00000310571	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	1.000	-	-	73602202	T	-	73602202	7	5	161	1	0	1	0	1	0	0	0	0	11401	1725	60	0	252	0	PAAF1	11	73602202	Frame_Shift_Del	DEL	T	TCGA-VR-A8EO-01A-11D-A36J-09	4926491	73602202	61404314	84	41002											
CEP164	22897	genome.wustl.edu	37	chr11	117261524	117261526	+	In_Frame_Del	DEL	GAG	GAG	-																															agcggctgcagaaagccattGaggaggaggaggcccggatg																										TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr11:117261524_117261526delGAG	ENST00000278935.3	+	16	2113_2115	c.1966_1968delGAG	c.(1966-1968)gagdel	p.E659del	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	659	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)		GAAAGCCATTGAGGAGGAGGAGG	0.522																																																	0																																										SO:0001651	inframe_deletion	0			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.1966_1968delGAG	11.37:g.117261533_117261535delGAG	ENSP00000278935:p.Glu659del		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	In_Frame_Del	DEL	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.E659in_frame_del	ENST00000278935.3	37	c.1966_1968	CCDS31683.1	11																																																																																			CEP164	-	NULL	ENSG00000110274		0.522	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1		0	52	0	GAG	NM_014956		117261526	1	tier1		no_errors	ENST00000278935	ensembl	human	known	74_37	in_frame_del	10.00	18	2	DEL	0.348:0.986:0.998	-	-	117261526	GAG	-	117261524	7	5	161	1	0	1	0	1	0	0	0	0	3256	1291	45	0	2020	0	CEP164	11	117261524	In_Frame_Del	DEL	GAG	TCGA-VR-A8EO-01A-11D-A36J-09	43659322	117261524	17744992	85	41003											
NCAPD3	23310	genome.wustl.edu	37	chr11	134027864	134027864	+	Frame_Shift_Del	DEL	A	A	-																															ggcttccagaatttaaagtgAaaggcagcactcctaagctc																										TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr11:134027864delA	ENST00000534548.2	-	31	4197	c.4133delT	c.(4132-4134)ttcfs	p.F1378fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1378					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)		ATTTAAAGTGAAAGGCAGCAC	0.478																																																	0													203	204	204					11																	134027864		2201	4297	6498	SO:0001589	frameshift_variant	0			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.4133delT	11.37:g.134027864delA	ENSP00000433681:p.Phe1378fs		A6NFS2|Q4KMQ9	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,pirsf_NCAPD3	p.F1378fs	ENST00000534548.2	37	c.4133	CCDS31723.1	11																																																																																			NCAPD3	-	pirsf_NCAPD3	ENSG00000151503		0.478	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2		0	71	0	A	NM_015261		134027864	-1	tier1		no_errors	ENST00000534548	ensembl	human	known	74_37	frame_shift_del	12.50	14	2	DEL	0.015	-	-	134027864	A	-	134027864	7	5	161	1	0	1	0	1	0	0	0	0	10245	246	9	0	383	0	NCAPD3	11	134027864	Frame_Shift_Del	DEL	A	TCGA-VR-A8EO-01A-11D-A36J-09	16766340	134027864	978652	86	41004											
SLCO1B3	28234	genome.wustl.edu	37	chr12	21069005	21069005	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttatatattgttttcattTttgctatgaagaaaaaattt	13	22	4	2	0	1	2	1	1	0	1	1	2	1	2	0	0	1	2	0	0	8	11			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr12:21069005T>G	ENST00000381545.3	+	16	2152	c.1933T>G	c.(1933-1935)Ttt>Gtt	p.F645V	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F645V|LST3_ENST00000540229.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	645					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGTTTTCATTTTTGCTATGAA	0.313																																																	0													67	68	68					12																	21069005		2201	4298	6499	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1933T>G	12.37:g.21069005T>G	ENSP00000370956:p.Phe645Val		E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F645V	ENST00000381545.3	37	c.1933	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	.	6.769	0.510754	0.12883	.	.	ENSG00000111700	ENST00000261196;ENST00000381545	T;T	0.57752	0.38;0.38	3.6	-0.539	0.11865	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.566790	0.03492	N	0.216833	T	0.41119	0.1145	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.15752	-1.0426	10	0.32370	T	0.25	.	2.4512	0.04518	0.4368:0.1333:0.0:0.4299	.	645	Q9NPD5	SO1B3_HUMAN	V	645	ENSP00000261196:F645V;ENSP00000370956:F645V	ENSP00000261196:F645V	F	+	1	0	SLCO1B3	20960272	0.028000	0.19301	0.026000	0.17262	0.007000	0.05969	0.282000	0.18829	0.359000	0.24239	0.445000	0.29226	TTT	SLCO1B3	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.313	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0	69	0	T	NM_019844		21069005	1	tier1	-	no_errors	ENST00000261196	ensembl	human	known	74_37	missense	47.27	29	26	SNP	0.002	G	G	21069005	T	G	21069005	3	3	161	1	0	0	0	0	1	0	0	0	14769	1841	64	4	1987	4	SLCO1B3	12	21069005	Missense_Mutation	SNP	T	TCGA-VR-A8EO-01A-11D-A36J-09		21069005	112782890	87	41005											
ABCD2	225	genome.wustl.edu	37	chr12	39973422	39973422	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccataacagcatcccatcCttaagaaaataaaaaaatat	20	9	3	9	0	0	1	0	0	0	1	3	1	3	1	3	0	2	1	3	0	9	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr12:39973422C>T	ENST00000308666.3	-	8	1928		c.e8-1			NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2						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)			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						GCATCCCATCCTTAAGaaaat	0.318																																																	0													111	109	110					12																	39973422		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1793-1G>A	12.37:g.39973422C>T			B2RAM3|Q13210|Q2M3H9	Splice_Site	SNP	-	e8-1	ENST00000308666.3	37	c.1793-1	CCDS8734.1	12	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600347	0.87055	.	.	ENSG00000173208	ENST00000308666	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8662	0.92293	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCD2	38259689	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	7.520000	0.81821	2.459000	0.83118	0.579000	0.79373	.	ABCD2	-	-	ENSG00000173208		0.318	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD2	HGNC	protein_coding	OTTHUMT00000403591.1	-	0	39	0	C	NM_005164	Intron	39973422	-1	tier1	-	no_errors	ENST00000308666	ensembl	human	known	74_37	splice_site	25.00	32	11	SNP	1.000	T	T	39973422	C	T	39973422	5	4	161	1	0	0	0	0	0	0	1	0	61	695	24	3	442	3	ABCD2	12	39973422	Splice_Site	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	18904417	39973422	93878473	88	41006											
STAT6	6778	genome.wustl.edu	37	chr12	57492339	57492339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctggggagaggccttgaTacggggggatggagtgagag	8	8	20	5	1	1	3	0	2	1	2	1	7	1	5	1	7	1	0	1	7	1	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr12:57492339T>A	ENST00000300134.3	-	19	2433	c.2108A>T	c.(2107-2109)tAt>tTt	p.Y703F	STAT6_ENST00000543873.2_Missense_Mutation_p.Y703F|STAT6_ENST00000556155.1_Missense_Mutation_p.Y703F|STAT6_ENST00000454075.3_Missense_Mutation_p.Y703F|STAT6_ENST00000537215.2_Missense_Mutation_p.Y593F|STAT6_ENST00000538913.2_Missense_Mutation_p.Y593F	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	703					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|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(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GAGGCCTTGATACGGGGGGAT	0.572																																																	0													90	90	90					12																	57492339		2203	4300	6503	SO:0001583	missense	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2108A>T	12.37:g.57492339T>A	ENSP00000300134:p.Tyr703Phe		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.Y703F	ENST00000300134.3	37	c.2108	CCDS8931.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.28|10.28	1.307301|1.307301	0.23821|0.23821	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000555318|ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721	T|D;D;D;D;D;D	0.78003|0.91464	-1.14|-2.64;-2.85;-2.64;-2.64;-2.85;-2.64	4.41|4.41	1.94|1.94	0.25998|0.25998	.|.	.|1.242850	.|0.05687	.|N	.|0.591469	T|T	0.74397|0.74397	0.3711|0.3711	N|N	0.01874|0.01874	-0.695|-0.695	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.06405	.|0.002;0.001	T|T	0.63545|0.63545	-0.6613|-0.6613	6|10	.|0.09590	.|T	.|0.72	-4.3985|-4.3985	6.977|6.977	0.24681|0.24681	0.3871:0.0:0.0:0.6129|0.3871:0.0:0.0:0.6129	.|.	.|703;703	.|A8K4S9;P42226	.|.;STAT6_HUMAN	F|F	129|703;593;593;703;703;593;703;593	ENSP00000450428:I129F|ENSP00000300134:Y703F;ENSP00000445409:Y593F;ENSP00000438451:Y703F;ENSP00000451742:Y703F;ENSP00000444530:Y593F;ENSP00000401486:Y703F	.|ENSP00000300134:Y703F	I|Y	-|-	1|2	0|0	STAT6|STAT6	55778606|55778606	0.988000|0.988000	0.35896|0.35896	0.299000|0.299000	0.25016|0.25016	0.963000|0.963000	0.63663|0.63663	0.597000|0.597000	0.24059|0.24059	0.415000|0.415000	0.25817|0.25817	0.528000|0.528000	0.53228|0.53228	ATC|TAT	STAT6	-	NULL	ENSG00000166888		0.572	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	-	0	80	0	T	NM_003153		57492339	-1	tier1	-	no_errors	ENST00000300134	ensembl	human	known	74_37	missense	57.14	15	20	SNP	0.408	A	A	57492339	T	A	57492339	3	1	161	1	0	0	0	0	1	0	0	0	15317	1406	49	5	451	5	STAT6	12	57492339	Missense_Mutation	SNP	T	TCGA-VR-A8EO-01A-11D-A36J-09	17518917	57492339	76359556	89	41007											
APAF1	317	genome.wustl.edu	37	chr12	99117533	99117533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctacctctgctgacaaGactgcaaaggtaggtcaatc	12	10	8	11	0	4	2	2	1	2	1	5	2	4	2	1	2	3	3	1	2	5	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr12:99117533G>T	ENST00000551964.1	+	24	4057	c.3321G>T	c.(3319-3321)aaG>aaT	p.K1107N	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.K1053N|APAF1_ENST00000357310.1_Missense_Mutation_p.K1064N|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.K1064N|APAF1_ENST00000549007.1_Missense_Mutation_p.K1064N|APAF1_ENST00000550527.1_Missense_Mutation_p.K1096N|APAF1_ENST00000547045.1_Missense_Mutation_p.K1064N	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1107					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)	CTGCTGACAAGACTGCAAAGG	0.363																																																	0													98	102	101					12																	99117533		2203	4300	6503	SO:0001583	missense	0			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.3321G>T	12.37:g.99117533G>T	ENSP00000448165:p.Lys1107Asn		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.K1107N	ENST00000551964.1	37	c.3321	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689734	0.48097	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;1.1;0.21;0.21;1.1	5.72	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.134229	0.64402	D	0.000003	T	0.42630	0.1211	N	0.25426	0.745	0.80722	D	1	B;B;B;B;B	0.14012	0.006;0.005;0.004;0.009;0.002	B;B;B;B;B	0.23419	0.021;0.046;0.018;0.038;0.007	T	0.33137	-0.9880	10	0.40728	T	0.16	-8.7913	8.2993	0.32004	0.214:0.0:0.786:0.0	.	1064;1064;1053;1107;1096	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	N	1107;1053;1064;1064;1096;1064;1064	ENSP00000448165:K1107N;ENSP00000353059:K1053N;ENSP00000349862:K1064N;ENSP00000341830:K1064N;ENSP00000448449:K1096N;ENSP00000449791:K1064N;ENSP00000448161:K1064N	ENSP00000341830:K1064N	K	+	3	2	APAF1	97641664	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.218000	0.42889	2.690000	0.91761	0.655000	0.94253	AAG	APAF1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000120868		0.363	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	-	0	76	0	G	NM_181861.1		99117533	1	tier1	-	no_errors	ENST00000551964	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	99117533	G	T	99117533	3	4	161	1	0	0	0	0	1	0	0	0	755	933	33	3	3411	3	APAF1	12	99117533	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	41625194	99117533	34734362	90	41008											
NUAK1	9891	genome.wustl.edu	37	chr12	106532214	106532214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcggccagaaaacctctcgGtggcccgcttgactttgccg	6	9	11	15	4	1	2	0	1	1	1	3	2	1	2	4	3	2	1	4	3	2	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr12:106532214G>T	ENST00000261402.2	-	1	1597	c.218C>A	c.(217-219)aCc>aAc	p.T73N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAACCTCTCGGTGGCCCGCTT	0.672																																																	0													55	45	49					12																	106532214		2203	4300	6503	SO:0001583	missense	0			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.218C>A	12.37:g.106532214G>T	ENSP00000261402:p.Thr73Asn		A7MD39|Q96KA8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T73N	ENST00000261402.2	37	c.218	CCDS31892.1	12	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885690	0.51908	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.25749	1.78	4.07	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.116604	0.38111	N	0.001816	T	0.31888	0.0811	M	0.72624	2.21	0.37043	D	0.897217	P	0.38788	0.647	B	0.43838	0.433	T	0.38156	-0.9674	10	0.62326	D	0.03	.	7.5553	0.27820	0.2087:0.0:0.7913:0.0	.	73	O60285	NUAK1_HUMAN	N	73	ENSP00000261402:T73N	ENSP00000261402:T73N	T	-	2	0	NUAK1	105056344	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	4.055000	0.57441	1.832000	0.53329	0.313000	0.20887	ACC	NUAK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000074590		0.672	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	-	0	59	0	G	NM_014840		106532214	-1	tier1	-	no_errors	ENST00000261402	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	T	T	106532214	G	T	106532214	3	4	161	1	0	0	0	0	1	0	0	0	10751	1261	44	3	1795	3	NUAK1	12	106532214	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	7414681	106532214	27319681	91	41009											
SART3	9733	genome.wustl.edu	37	chr12	108919248	108919248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgacctttggtttgccagCccggttggtgaccagcctga	5	12	12	12	1	1	3	0	3	1	0	1	3	1	3	5	3	3	2	5	3	0	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr12:108919248C>T	ENST00000228284.3	-	17	2743	c.2509G>A	c.(2509-2511)Gct>Act	p.A837T	SART3_ENST00000431469.2_Missense_Mutation_p.A801T|FICD_ENST00000546448.1_Intron	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	837	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GGTTTGCCAGCCCGGTTGGTG	0.488									Porokeratosis																																								0													110	94	99					12																	108919248		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.2509G>A	12.37:g.108919248C>T	ENSP00000228284:p.Ala837Thr		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.A837T	ENST00000228284.3	37	c.2509	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761432	0.49468	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000547397	T;T;T	0.10960	2.82;2.82;2.82	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.051842	0.85682	D	0.000000	T	0.04815	0.0130	N	0.01128	-1	0.80722	D	1	B;B	0.30914	0.3;0.195	B;B	0.34242	0.178;0.114	T	0.53365	-0.8449	10	0.12766	T	0.61	-17.7337	18.3865	0.90469	0.0:1.0:0.0:0.0	.	801;837	B7ZKM0;Q15020	.;SART3_HUMAN	T	837;801;402;76	ENSP00000228284:A837T;ENSP00000414453:A801T;ENSP00000447875:A76T	ENSP00000228284:A837T	A	-	1	0	SART3	107443378	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.610000	0.54125	2.785000	0.95823	0.655000	0.94253	GCT	SART3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000075856		0.488	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1		0	62	0	C			108919248	-1			no_errors	ENST00000228284	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	108919248	C	T	108919248	3	4	161	1	0	0	0	0	1	0	0	0	13892	739	26	3	394	3	SART3	12	108919248	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	2387034	108919248	24932647	92	41010											
C12orf51	283450	genome.wustl.edu	37	chr12	112720968	112720968	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ggaaccagtcagggcagcaaGcgttgctgacggggaggctc	9	5	17	10	2	1	1	1	1	0	0	2	3	1	3	1	5	4	5	1	5	2	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr12:112720968G>A	ENST00000430131.2	-	8	1437	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F	HECTD4_ENST00000550722.1_Missense_Mutation_p.L348F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L348F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	98					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)										AGGGCAGCAAGCGTTGCTGAC	0.463																																																	0													103	101	102					12																	112720968		1986	4159	6145	SO:0001583	missense	0			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.292C>T	12.37:g.112720968G>A	ENSP00000404379:p.Leu98Phe		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.L348F	ENST00000430131.2	37	c.1042		12	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420118	0.62622	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.63096	0.35;-0.02;0.32	5.58	4.69	0.59074	.	.	.	.	.	T	0.63153	0.2487	N	0.14661	0.345	0.34847	D	0.741266	D	0.65815	0.995	D	0.72982	0.979	T	0.73946	-0.3822	9	0.72032	D	0.01	.	11.3332	0.49487	0.1928:0.0:0.8072:0.0	.	98	Q9Y4D8	K0614_HUMAN	F	348;98;348	ENSP00000366783:L348F;ENSP00000404379:L98F;ENSP00000449784:L348F	ENSP00000366783:L348F	L	-	1	0	C12orf51	111205351	1.000000	0.71417	0.360000	0.25837	0.631000	0.37964	3.037000	0.49775	1.370000	0.46153	0.555000	0.69702	CTT	HECTD4	-	NULL	ENSG00000173064		0.463	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	46	0	G	NM_173813		112720968	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	45.28	29	24	SNP	0.777	A	A	112720968	G	A	112720968	3	1	161	1	0	0	0	0	1	0	0	0	1701	971	34	3	11970	3	C12orf51	12	112720968	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	3801720	112720968	21130927	93	41011											
NOS1	4842	genome.wustl.edu	37	chr12	117698402	117698402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccatcagcttggccgaGaacttgacagctctggaggg	8	8	13	12	1	2	2	1	1	1	1	2	4	2	3	3	3	4	2	3	3	1	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr12:117698402G>T	ENST00000338101.4	-	13	2239	c.2235C>A	c.(2233-2235)ttC>ttA	p.F745L	NOS1_ENST00000317775.6_Missense_Mutation_p.F745L|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.F745L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCTTGGCCGAGAACTTGACAG	0.517																																					Esophageal Squamous(162;1748 2599 51982 52956)												1	Substitution - Missense(1)	large_intestine(1)											71	69	70					12																	117698402		1934	4162	6096	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2235C>A	12.37:g.117698402G>T	ENSP00000337459:p.Phe745Leu			Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.F745L	ENST00000338101.4	37	c.2235	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113672	0.56398	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.01446	4.91;4.88	5.11	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.04048	0.0113	M	0.76002	2.32	0.80722	D	1	P	0.37824	0.609	B	0.40864	0.342	T	0.28004	-1.0057	10	0.66056	D	0.02	-32.7639	9.8821	0.41240	0.155:0.0:0.845:0.0	.	745	P29475	NOS1_HUMAN	L	640;745;745;745	ENSP00000320758:F745L;ENSP00000337459:F745L	ENSP00000320758:F745L	F	-	3	2	NOS1	116182785	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.635000	0.46537	1.385000	0.46445	0.655000	0.94253	TTC	NOS1	-	pirsf_NOS_euk	ENSG00000089250		0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1		0	48	0	G			117698402	-1			no_errors	ENST00000317775	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	117698402	G	T	117698402	3	4	161	1	0	0	0	0	1	0	0	0	10580	933	33	3	2133	3	NOS1	12	117698402	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	4977434	117698402	16153493	94	41012											
PDS5B	23047	genome.wustl.edu	37	chr13	33349165	33349165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttaaggtacggcggcGaagtgctaaaagggaacggc	11	8	14	8	4	0	0	0	0	0	0	1	2	1	1	1	5	3	2	1	5	6	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr13:33349165G>T	ENST00000315596.10	+	35	4505	c.4319G>T	c.(4318-4320)cGa>cTa	p.R1440L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1440					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)		GTACGGCGGCGAAGTGCTAAA	0.333																																																	0													93	88	90					13																	33349165		1807	4073	5880	SO:0001583	missense	0			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.4319G>T	13.37:g.33349165G>T	ENSP00000313851:p.Arg1440Leu		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1440L	ENST00000315596.10	37	c.4319	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815010	0.70912	.	.	ENSG00000083642	ENST00000315596	.	.	.	5.21	5.21	0.72293	.	0.179883	0.46758	D	0.000278	T	0.63674	0.2531	N	0.19112	0.55	0.44619	D	0.997591	D	0.63046	0.992	D	0.70487	0.969	T	0.67975	-0.5531	9	0.62326	D	0.03	-3.1899	17.3029	0.87187	0.0:0.0:1.0:0.0	.	1440	Q9NTI5	PDS5B_HUMAN	L	1440	.	ENSP00000313851:R1440L	R	+	2	0	PDS5B	32247165	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	6.280000	0.72626	2.581000	0.87130	0.655000	0.94253	CGA	PDS5B	-	NULL	ENSG00000083642		0.333	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3		0	56	0	G	NM_015032		33349165	1			no_errors	ENST00000315596	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	33349165	G	T	33349165	3	4	161	1	0	0	0	0	1	0	0	0	11731	1058	37	2	4453	2	PDS5B	13	33349165	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09		33349165	81820713	95	41013											
KBTBD6	89890	genome.wustl.edu	37	chr13	41705906	41705906	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctctttgggagcagcctCcagccactgcactgccacat	7	8	9	17	1	1	0	0	0	1	0	2	1	2	1	5	1	5	3	5	1	0	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr13:41705906C>A	ENST00000379485.1	-	1	976	c.742G>T	c.(742-744)Gag>Tag	p.E248*	KBTBD6_ENST00000499385.2_Nonsense_Mutation_p.E182*	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	248										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)		GGAGCAGCCTCCAGCCACTGC	0.582																																																	0													67	68	68					13																	41705906		2203	4300	6503	SO:0001587	stop_gained	0			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.742G>T	13.37:g.41705906C>A	ENSP00000368799:p.Glu248*		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.E248*	ENST00000379485.1	37	c.742	CCDS9376.1	13	.	.	.	.	.	.	.	.	.	.	c	37	6.601346	0.97697	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	.	.	.	3.69	2.83	0.33086	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	10.4062	0.44258	0.197:0.803:0.0:0.0	.	.	.	.	X	248;182	.	ENSP00000368799:E248X	E	-	1	0	KBTBD6	40603906	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	4.215000	0.58534	0.875000	0.35847	0.462000	0.41574	GAG	KBTBD6	-	pfam_BACK,smart_BACK	ENSG00000165572		0.582	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	HGNC	protein_coding	OTTHUMT00000044657.1		0	42	0	C	NM_152903		41705906	-1			no_errors	ENST00000379485	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	1.000	A	A	41705906	C	A	41705906	4	1	161	1	0	0	0	0	0	1	0	0	8024	864	30	3	1286	3	KBTBD6	13	41705906	Nonsense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	8356741	41705906	73463972	96	41014											
GPC6	10082	genome.wustl.edu	37	chr13	94482415	94482415	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatctgcagaatttttcCgagagctcctggagaatgca	10	14	9	8	1	1	3	0	0	1	3	3	5	3	3	2	1	3	3	2	1	3	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr13:94482415C>T	ENST00000377047.4	+	3	943	c.328C>T	c.(328-330)Cga>Tga	p.R110*	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	110					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)				AGAATTTTTCCGAGAGCTCCT	0.388																																																	0													33	34	34					13																	94482415		2203	4298	6501	SO:0001587	stop_gained	0			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.328C>T	13.37:g.94482415C>T	ENSP00000366246:p.Arg110*		A8K279|Q96SG5|Q96SG8|Q9H1P4	Nonsense_Mutation	SNP	pfam_Glypican	p.R110*	ENST00000377047.4	37	c.328	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	C	43	9.954422	0.99304	.	.	ENSG00000183098	ENST00000377047	.	.	.	5.53	4.67	0.58626	.	0.560121	0.16865	N	0.196374	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	13.6268	0.62170	0.2823:0.7177:0.0:0.0	.	.	.	.	X	110	.	ENSP00000366246:R110X	R	+	1	2	GPC6	93280416	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.944000	0.49034	1.447000	0.47661	0.650000	0.86243	CGA	GPC6	-	pfam_Glypican	ENSG00000183098		0.388	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4		0	84	0	C	NM_005708		94482415	1			no_errors	ENST00000377047	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T	T	94482415	C	T	94482415	4	4	161	1	0	0	0	0	0	1	0	0	6628	644	23	1	338	1	GPC6	13	94482415	Nonsense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	52776509	94482415	20687463	97	41015											
ABCC4	10257	genome.wustl.edu	37	chr13	95887085	95887085	+	Frame_Shift_Del	DEL	T	T	-																															gggctggattactttggcacTttcctaaaagaagaaaaaga																										TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr13:95887085delT	ENST00000376887.4	-	4	424	c.310delA	c.(310-312)agtfs	p.S104fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.S104fs|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000431522.1_Frame_Shift_Del_p.S104fs|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	104	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ACTTTGGCACTTTCCTAAAAG	0.333																																																	0													9	10	10					13																	95887085		2157	4256	6413	SO:0001589	frameshift_variant	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.310delA	13.37:g.95887085delT	ENSP00000366084:p.Ser104fs		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Frame_Shift_Del	DEL	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM	p.S104fs	ENST00000376887.4	37	c.310	CCDS9474.1	13																																																																																			ABCC4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM	ENSG00000125257		0.333	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2		0	49	0	T	NM_005845		95887085	-1	tier1		no_errors	ENST00000376887	ensembl	human	known	74_37	frame_shift_del	13.33	13	2	DEL	0.001	-	-	95887085	T	-	95887085	7	5	161	1	0	1	0	1	0	0	0	0	55	1609	56	0	3828	0	ABCC4	13	95887085	Frame_Shift_Del	DEL	T	TCGA-VR-A8EO-01A-11D-A36J-09	1404670	95887085	19282793	98	41016											
SLC8A3	6547	genome.wustl.edu	37	chr14	70634851	70634851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatagatgccatgaagcGgtcagcaatgatggacaccc	13	8	10	10	1	2	3	2	2	0	1	2	4	2	4	2	2	3	1	2	2	4	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr14:70634851G>T	ENST00000381269.2	-	2	1042	c.289C>A	c.(289-291)Cgc>Agc	p.R97S	SLC8A3_ENST00000357887.3_Missense_Mutation_p.R97S|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R97S|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R97S|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R97S	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	97					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)	p.R97C(2)		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)		GCCATGAAGCGGTCAGCAATG	0.488																																																	2	Substitution - Missense(2)	kidney(2)											87	76	80					14																	70634851		2203	4300	6503	SO:0001583	missense	0			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.289C>A	14.37:g.70634851G>T	ENSP00000370669:p.Arg97Ser		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.R97S	ENST00000381269.2	37	c.289	CCDS35498.1	14	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566865	0.65651	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.96	4.96	0.65561	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.994;0.998	D;D;D;D	0.91635	0.993;0.999;0.988;0.992	D	0.85631	0.1270	10	0.51188	T	0.08	.	18.3961	0.90499	0.0:0.0:1.0:0.0	.	97;97;97;97	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	S	97	ENSP00000349392:R97S;ENSP00000370669:R97S;ENSP00000350560:R97S;ENSP00000436688:R97S;ENSP00000433531:R97S	ENSP00000349392:R97S	R	-	1	0	SLC8A3	69704604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.648000	0.98483	2.573000	0.86826	0.650000	0.86243	CGC	SLC8A3	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex	ENSG00000100678		0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	HGNC	protein_coding	OTTHUMT00000390736.1		0	57	0	G			70634851	-1			no_errors	ENST00000381269	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	70634851	G	T	70634851	3	4	161	1	0	0	0	0	1	0	0	0	14753	1116	39	2	2633	2	SLC8A3	14	70634851	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09		70634851	36714689	99	41017											
CDC42BPB	9578	genome.wustl.edu	37	chr14	103440404	103440404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgcggtgctgcttctccagCccccgcagccgctgcgtgga	4	7	13	17	5	1	0	0	0	1	0	2	1	1	1	4	2	5	4	4	2	0	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr14:103440404C>T	ENST00000361246.2	-	12	1878	c.1590G>A	c.(1588-1590)ggG>ggA	p.G530G		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)		GCTTCTCCAGCCCCCGCAGCC	0.587																																																	0													64	56	58					14																	103440404		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1590G>A	14.37:g.103440404C>T				Silent	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.G530	ENST00000361246.2	37	c.1590	CCDS9978.1	14																																																																																			CDC42BPB	-	NULL	ENSG00000198752		0.587	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1		0	79	0	C	NM_006035		103440404	-1			no_errors	ENST00000361246	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.592	T	T	103440404	C	T	103440404	2	4	161	1	0	0	0	0	0	0	0	1	3080	726	26	3		3	CDC42BPB	14	103440404	Silent	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	32805553	103440404	3909136	100	41018											
JMJD7-PLA2G4B	100137049	genome.wustl.edu	37	chr15	42133260	42133260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctctcttcccagggtgaggGgcgcctggaagttgaatttc	6	11	14	10	1	1	2	0	2	1	0	4	3	2	3	2	4	0	2	2	4	2	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr15:42133260G>T	ENST00000452633.1	+	6	711	c.359G>T	c.(358-360)gGg>gTg	p.G120V	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.G351V|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.G351V|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.G120V|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.G351V			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	120					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)		CAGGGTGAGGGGCGCCTGGAA	0.557																																																	0													101	104	103					15																	42133260		2203	4300	6503	SO:0001583	missense	0			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.359G>T	15.37:g.42133260G>T	ENSP00000396045:p.Gly120Val		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.G351V	ENST00000452633.1	37	c.1052	CCDS45241.1	15	.	.	.	.	.	.	.	.	.	.	.	11.69	1.715320	0.30413	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	4.7	-2.42	0.06542	C2 calcium/lipid-binding domain, CaLB (1);	1.047430	0.07494	N	0.906083	T	0.04998	0.0134	N	0.22421	0.69	0.18873	N	0.999985	B;B;B	0.23249	0.007;0.013;0.082	B;B;B	0.21917	0.005;0.037;0.037	T	0.43686	-0.9376	10	0.35671	T	0.21	-9.2673	3.191	0.06616	0.3825:0.0:0.3171:0.3004	.	120;351;351	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	V	351;351;120;120	ENSP00000371886:G351V;ENSP00000342785:G351V;ENSP00000416610:G120V;ENSP00000396045:G120V	ENSP00000342785:G351V	G	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39920552	0.003000	0.15002	0.000000	0.03702	0.147000	0.21601	0.572000	0.23684	-0.529000	0.06358	-0.345000	0.07892	GGG	JMJD7-PLA2G4B	-	superfamily_C2_dom	ENSG00000168970		0.557	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000345969.1		0	58	0	G	NM_001114633		42133260	1			no_errors	ENST00000382448	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.000	T	T	42133260	G	T	42133260	3	4	161	1	0	0	0	0	1	0	0	0	7982	1232	43	3	1090	3	JMJD7-PLA2G4B	15	42133260	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09		42133260	60398132	101	41019											
CDAN1	146059	genome.wustl.edu	37	chr15	43021258	43021258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttgatccaattctttctgCcacgaactctacggtccggc	7	13	8	13	3	3	1	0	1	3	0	5	2	5	1	3	2	3	1	3	2	3	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr15:43021258C>T	ENST00000356231.3	-	19	2631	c.2608G>A	c.(2608-2610)Gca>Aca	p.A870T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	870					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		ATTCTTTCTGCCACGAACTCT	0.537																																																	0													112	108	109					15																	43021258		2203	4299	6502	SO:0001583	missense	0			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2608G>A	15.37:g.43021258C>T	ENSP00000348564:p.Ala870Thr		Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	NULL	p.A870T	ENST00000356231.3	37	c.2608	CCDS32209.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.490676	0.96339	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	T	0.75704	-0.96	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.83436	0.5254	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.71870	0.975;0.795	D	0.84330	0.0521	10	0.62326	D	0.03	-7.886	19.185	0.93639	0.0:1.0:0.0:0.0	.	870;868	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	T	870;868	ENSP00000348564:A870T	ENSP00000267892:A868T	A	-	1	0	CDAN1	40808550	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.727000	0.68523	2.521000	0.84997	0.462000	0.41574	GCA	CDAN1	-	NULL	ENSG00000140326		0.537	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDAN1	HGNC	protein_coding	OTTHUMT00000431103.1	-	0	104	0	C	XM_085300		43021258	-1	tier1	-	no_errors	ENST00000356231	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	43021258	C	T	43021258	3	4	161	1	0	0	0	0	1	0	0	0	3061	739	26	3	1115	3	CDAN1	15	43021258	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	887998	43021258	59510134	102	41020											
MAPK6	5597	genome.wustl.edu	37	chr15	52356854	52356854	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggactgttttttcataaAtcagttttgtgaggtaagga	11	15	12	3	0	2	1	2	1	0	0	2	4	2	4	0	4	0	3	0	4	3	7			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr15:52356854A>T	ENST00000261845.5	+	6	2630	c.1823A>T	c.(1822-1824)aAt>aTt	p.N608I	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	608					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)		TTTTTCATAAATCAGTTTTGT	0.408																																																	0													74	75	75					15																	52356854		2195	4293	6488	SO:0001583	missense	0			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.1823A>T	15.37:g.52356854A>T	ENSP00000261845:p.Asn608Ile		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4	p.N608I	ENST00000261845.5	37	c.1823	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274695	0.23307	.	.	ENSG00000069956	ENST00000261845	T	0.71698	-0.59	5.27	1.12	0.20585	.	0.216427	0.53938	D	0.000046	T	0.53174	0.1780	N	0.24115	0.695	0.29103	N	0.881341	B	0.14438	0.01	B	0.17433	0.018	T	0.50083	-0.8869	10	0.87932	D	0	-6.4461	8.5705	0.33567	0.7333:0.0:0.2667:0.0	.	608	Q16659	MK06_HUMAN	I	608	ENSP00000261845:N608I	ENSP00000261845:N608I	N	+	2	0	MAPK6	50144146	1.000000	0.71417	0.985000	0.45067	0.964000	0.63967	4.856000	0.62932	-0.031000	0.13781	-0.486000	0.04755	AAT	MAPK6	-	NULL	ENSG00000069956		0.408	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	HGNC	protein_coding	OTTHUMT00000254841.2	-	0	111	0	A	NM_002748		52356854	1	tier1	-	no_errors	ENST00000261845	ensembl	human	known	74_37	missense	59.74	31	46	SNP	1.000	T	T	52356854	A	T	52356854	3	4	161	1	0	0	0	0	1	0	0	0	9319	101	4	5	1841	5	MAPK6	15	52356854	Missense_Mutation	SNP	A	TCGA-VR-A8EO-01A-11D-A36J-09	9335596	52356854	50174538	103	41021											
THSD4	79875	genome.wustl.edu	37	chr15	72057376	72057376	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgttccatcgagtgtggGagcgggacgcaacagaggga	10	6	17	8	3	0	1	0	0	0	1	2	5	1	4	1	3	2	2	1	3	1	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr15:72057376G>T	ENST00000355327.3	+	16	2741	c.2607G>T	c.(2605-2607)ggG>ggT	p.G869G	THSD4_ENST00000357769.4_Silent_p.G509G|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.G869G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	869	TSP type-1 5. {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						TCGAGTGTGGGAGCGGGACGC	0.498																																																	0													122	122	122					15																	72057376		1956	4154	6110	SO:0001819	synonymous_variant	0			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.2607G>T	15.37:g.72057376G>T			B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.G869	ENST00000355327.3	37	c.2607	CCDS10238.2	15																																																																																			THSD4	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000187720		0.498	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	-	0	105	0	G	NM_024817		72057376	1	tier1	-	no_errors	ENST00000261862	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.002	T	T	72057376	G	T	72057376	2	4	161	1	0	0	0	0	0	0	0	1	15925	1161	41	3		3	THSD4	15	72057376	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	19700522	72057376	30474016	104	41022											
NR2E3	10002	genome.wustl.edu	37	chr15	72105933	72105934	+	RNA	DNP	CA	CA	AC																															gggcattggcggtggaccccCacggagtttgcctgcatgaa																								rs201606159		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr15:72105933_72105934CA>AC	ENST00000398840.2	+	0	1141_1142							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						GGTGGACCCCCACGGAGTTTGC	0.604																																																	0																																												0				CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"Nuclear hormone receptors"	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841	Exception_encountered	15.37:g.72105933_72105934delinsAC			B6ZGU0|Q9UHM4	RNA	SNP	-	NULL	ENST00000398840.2	37	NULL		15																																																																																			NR2E3	-	-	ENSG00000031544		0.604	NR2E3-202	KNOWN	basic	processed_transcript	NR2E3	HGNC	processed_transcript			0	35|36	0	C|A	NM_014249		72105933|72105934	1			no_errors	ENST00000326995	ensembl	human	known	74_37	rna	21.74	18	5	SNP	1.000	A|C	AC	72105934	CA	AC	72105933	1	1	161	0	1	0	0	0	0	0	0	0	10665	594	21	3		3	NR2E3	15	72105933	RNA	DNP	CA	TCGA-VR-A8EO-01A-11D-A36J-09	48557	72105933	30425459	105	41023											
ACAN	176	genome.wustl.edu	37	chr15	89391161	89391161	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccccattgtgagccccCggaccccatgcgtgggtgac	7	7	12	15	2	0	2	0	2	0	0	0	4	0	3	6	2	3	0	6	2	1	2	rs143697605		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr15:89391161C>A	ENST00000561243.1	+	8	1624	c.1624C>A	c.(1624-1626)Cgg>Agg	p.R542R	ACAN_ENST00000559004.1_Silent_p.R542R|ACAN_ENST00000352105.7_Silent_p.R542R|ACAN_ENST00000439576.2_Silent_p.R542R|ACAN_ENST00000558207.1_Silent_p.R542R			P16112	PGCA_HUMAN	aggrecan	542	G2-B.|Link 3. {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)	p.R542W(1)		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)			TGTGAGCCCCCGGACCCCATG	0.607																																																	1	Substitution - Missense(1)	large_intestine(1)											72	75	74					15																	89391161		1949	4147	6096	SO:0001819	synonymous_variant	0			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.1624C>A	15.37:g.89391161C>A			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.R542	ENST00000561243.1	37	c.1624	CCDS53970.1	15																																																																																			ACAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000157766		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2		0	49	0	C	NM_001135		89391161	1			no_errors	ENST00000439576	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.689	A	A	89391161	C	A	89391161	2	1	161	1	0	0	0	0	0	0	0	1	117	643	23	2		2	ACAN	15	89391161	Silent	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	17285228	89391161	13140231	106	41024											
NGRN	51335	genome.wustl.edu	37	chr15	90814887	90814887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagagccccagaggaactgGcagtggtgcgttgccaagtg	9	7	16	9	1	0	2	0	1	0	2	0	4	0	3	3	3	4	2	3	3	2	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr15:90814887G>A	ENST00000379095.3	+	3	751	c.743G>A	c.(742-744)gGc>gAc	p.G248D	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	248					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AGAGGAACTGGCAGTGGTGCG	0.552																																																	0													45	41	42					15																	90814887		2199	4298	6497	SO:0001583	missense	0			AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.743G>A	15.37:g.90814887G>A	ENSP00000368389:p.Gly248Asp		B2R6M8|Q4V9L7|Q9HBL4	Missense_Mutation	SNP	pfam_Neugrin-related	p.G248D	ENST00000379095.3	37	c.743	CCDS32329.1	15	.	.	.	.	.	.	.	.	.	.	G	0.962	-0.703077	0.03255	.	.	ENSG00000182768	ENST00000379095	T	0.29655	1.56	4.53	-2.69	0.06022	.	0.513397	0.18024	N	0.154152	T	0.08313	0.0207	N	0.03016	-0.435	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.33394	-0.9870	10	0.06757	T	0.87	.	5.8569	0.18724	0.3723:0.0:0.467:0.1607	.	248	Q9NPE2	NGRN_HUMAN	D	248	ENSP00000368389:G248D	ENSP00000368389:G248D	G	+	2	0	NGRN	88615891	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.267000	0.08619	-0.596000	0.05821	-0.484000	0.04775	GGC	NGRN	-	pfam_Neugrin-related	ENSG00000182768		0.552	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NGRN	HGNC	protein_coding	OTTHUMT00000313418.1	-	0	64	0	G			90814887	1	tier1	-	no_errors	ENST00000379095	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	A	A	90814887	G	A	90814887	3	1	161	1	0	0	0	0	1	0	0	0	10438	1203	42	3	753	3	NGRN	15	90814887	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	1423726	90814887	11716505	107	41025											
IQGAP1	8826	genome.wustl.edu	37	chr15	91026647	91026647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccagccattgttgctcctGatgcctttgacatcattgac	8	14	7	12	0	1	3	1	3	0	0	3	3	3	3	4	0	3	2	4	0	0	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr15:91026647G>A	ENST00000268182.5	+	29	3734	c.3610G>A	c.(3610-3612)Gat>Aat	p.D1204N	IQGAP1_ENST00000560738.1_Missense_Mutation_p.D632N	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1204	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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)			TGTTGCTCCTGATGCCTTTGA	0.448																																																	0													79	72	74					15																	91026647		2198	4298	6496	SO:0001583	missense	0			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.3610G>A	15.37:g.91026647G>A	ENSP00000268182:p.Asp1204Asn		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.D1204N	ENST00000268182.5	37	c.3610	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.276420	0.95459	.	.	ENSG00000140575	ENST00000268182	D	0.82803	-1.65	5.34	5.34	0.76211	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.114616	0.64402	D	0.000017	D	0.93070	0.7794	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93792	0.7093	10	0.72032	D	0.01	-31.8402	18.5696	0.91130	0.0:0.0:1.0:0.0	.	1204	P46940	IQGA1_HUMAN	N	1204	ENSP00000268182:D1204N	ENSP00000268182:D1204N	D	+	1	0	IQGAP1	88827651	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.410000	0.97335	2.937000	0.99478	0.650000	0.86243	GAT	IQGAP1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000140575		0.448	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	-	0	68	0	G	NM_003870		91026647	1	tier1	-	no_errors	ENST00000268182	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	91026647	G	A	91026647	3	1	161	1	0	0	0	0	1	0	0	0	7841	1290	45	3	3724	3	IQGAP1	15	91026647	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	211760	91026647	11504745	108	41026											
SLCO3A1	28232	genome.wustl.edu	37	chr15	92459455	92459455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagtacaagtacgaggcggGcgagatccgctggggcgccg	8	4	17	12	6	0	1	0	0	0	1	1	3	1	1	3	4	2	3	3	4	3	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr15:92459455G>T	ENST00000318445.6	+	2	627	c.413G>T	c.(412-414)gGc>gTc	p.G138V	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G138V	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	138					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TACGAGGCGGGCGAGATCCGC	0.746																																																	0													6	6	6					15																	92459455		2028	3914	5942	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.413G>T	15.37:g.92459455G>T	ENSP00000320634:p.Gly138Val		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.G138V	ENST00000318445.6	37	c.413	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643449	0.47258	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.38077	1.16;1.16;1.16	5.0	5.0	0.66597	Major facilitator superfamily domain, general substrate transporter (1);	0.272817	0.35615	N	0.003092	T	0.24392	0.0591	N	0.12887	0.27	0.80722	D	1	B;B;B	0.28713	0.22;0.033;0.05	B;B;B	0.28385	0.069;0.046;0.089	T	0.06041	-1.0849	10	0.31617	T	0.26	.	17.6499	0.88161	0.0:0.0:1.0:0.0	.	80;138;138	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	V	138;138;80	ENSP00000320634:G138V;ENSP00000387846:G138V;ENSP00000450559:G80V	ENSP00000320634:G138V	G	+	2	0	SLCO3A1	90260459	1.000000	0.71417	0.980000	0.43619	0.965000	0.64279	5.901000	0.69861	2.494000	0.84150	0.655000	0.94253	GGC	SLCO3A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.746	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	-	0	33	0	G	NM_013272		92459455	1	tier1	-	no_errors	ENST00000318445	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.994	T	T	92459455	G	T	92459455	3	4	161	1	0	0	0	0	1	0	0	0	14773	1203	42	3	419	3	SLCO3A1	15	92459455	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	1432808	92459455	10071937	109	41027											
DNAH3	55567	genome.wustl.edu	37	chr16	20999357	20999357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcctcaaaggcattgatgGaaatgatattcagatggcga	14	10	10	7	1	2	3	2	2	0	1	3	5	3	4	1	3	0	1	1	3	3	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr16:20999357G>T	ENST00000261383.3	-	45	6631	c.6632C>A	c.(6631-6633)tCc>tAc	p.S2211Y	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2211	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)|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)		GGCATTGATGGAAATGATATT	0.413																																																	0													129	115	119					16																	20999357		2201	4300	6501	SO:0001583	missense	0			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.6632C>A	16.37:g.20999357G>T	ENSP00000261383:p.Ser2211Tyr		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.S2211Y	ENST00000261383.3	37	c.6632	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889188	0.52014	.	.	ENSG00000158486	ENST00000261383	T	0.36699	1.24	5.09	5.09	0.68999	ATPase, AAA+ type, core (1);	0.234953	0.35179	N	0.003397	T	0.59169	0.2174	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.58098	-0.7696	10	0.40728	T	0.16	.	18.4881	0.90836	0.0:0.0:1.0:0.0	.	2211	Q8TD57	DYH3_HUMAN	Y	2211	ENSP00000261383:S2211Y	ENSP00000261383:S2211Y	S	-	2	0	DNAH3	20906858	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.241000	0.72369	2.363000	0.80096	0.585000	0.79938	TCC	DNAH3	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000158486		0.413	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1		0	21	0	G	NM_017539		20999357	-1			no_errors	ENST00000261383	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T	T	20999357	G	T	20999357	3	4	161	1	0	0	0	0	1	0	0	0	4617	1174	41	3	5789	3	DNAH3	16	20999357	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09		20999357	69355396	110	41028											
MVP	9961	genome.wustl.edu	37	chr16	29853263	29853263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgggcctgagctggtgtcGctgggtcctgaggagcagtt	4	11	17	9	2	0	2	0	2	0	0	3	3	1	3	2	4	2	4	2	4	0	2	rs537113581		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr16:29853263G>A	ENST00000357402.5	+	10	1602	c.1464G>A	c.(1462-1464)tcG>tcA	p.S488S	MVP_ENST00000395353.1_Silent_p.S488S|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	488					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGCTGGTGTCGCTGGGTCCTG	0.672													G|||	1	0.000199681	0	0	5008	,	,		17155	0		0	False		,,,				2504	0.001																0													45	48	47					16																	29853263		2197	4300	6497	SO:0001819	synonymous_variant	0			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1464G>A	16.37:g.29853263G>A			Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.S488	ENST00000357402.5	37	c.1464	CCDS10656.1	16																																																																																			MVP	-	NULL	ENSG00000013364		0.672	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3		0	48	0	G	NM_005115		29853263	1			no_errors	ENST00000357402	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.001	A	A	29853263	G	A	29853263	2	1	161	1	0	0	0	0	0	0	0	1	10034	1074	38	1		1	MVP	16	29853263	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	8853906	29853263	60501490	111	41029											
LRRC50	123872	genome.wustl.edu	37	chr16	84182611	84182611	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatctcttttattttacaGaaattaatgatcctaaggaa	14	16	5	6	0	1	3	0	2	1	1	3	4	2	4	1	1	1	0	1	1	6	6			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr16:84182611G>T	ENST00000378553.5	+	2	248		c.e2-1		DNAAF1_ENST00000334315.5_Splice_Site	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1						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						TTATTTTACAGAAATTAATGA	0.403																																																	0													66	69	68					16																	84182611		2200	4300	6500	SO:0001630	splice_region_variant	0			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.125-1G>T	16.37:g.84182611G>T			B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Splice_Site	SNP	-	e2-1	ENST00000378553.5	37	c.125-1	CCDS10943.2	16	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369859	0.61624	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8684	0.57951	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAAF1	82740112	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	2.666000	0.46799	2.399000	0.81585	0.591000	0.81541	.	DNAAF1	-	-	ENSG00000154099		0.403	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	HGNC	protein_coding	OTTHUMT00000250328.3	-	0	39	0	G	NM_178452	Intron	84182611	1	tier1	-	no_errors	ENST00000378553	ensembl	human	known	74_37	splice_site	52.38	10	11	SNP	0.995	T	T	84182611	G	T	84182611	5	4	161	1	0	0	0	0	0	0	1	0	9044	956	33	3	130	3	LRRC50	16	84182611	Splice_Site	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	54329348	84182611	6172142	112	41030											
WDR81	124997	genome.wustl.edu	37	chr17	1629539	1629539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggcattcgtagcaggcggggCgggcggcggggaaccccctc	5	4	19	13	5	0	0	0	0	0	0	2	1	0	1	2	8	2	3	2	8	2	2	rs554874427		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr17:1629539C>T	ENST00000409644.1	+	1	1286	c.1286C>T	c.(1285-1287)gCg>gTg	p.A429V	WDR81_ENST00000309182.5_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	429	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)		GCAGGCGGGGCGGGCGGCGGG	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		17470	0		0	False		,,,				2504	0																0													17	23	21					17																	1629539		692	1587	2279	SO:0001583	missense	0			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.1286C>T	17.37:g.1629539C>T	ENSP00000386609:p.Ala429Val		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A429V	ENST00000409644.1	37	c.1286	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	0.571	-0.841056	0.02692	.	.	ENSG00000167716	ENST00000409644	T	0.52057	0.68	4.87	2.79	0.32731	.	.	.	.	.	T	0.47040	0.1424	.	.	.	0.19300	N	0.999974	.	.	.	.	.	.	T	0.37244	-0.9714	6	0.46703	T	0.11	.	10.0748	0.42353	0.0:0.7678:0.1495:0.0827	.	.	.	.	V	429	ENSP00000386609:A429V	ENSP00000386609:A429V	A	+	2	0	WDR81	1576289	0.000000	0.05858	0.002000	0.10522	0.054000	0.15201	-0.213000	0.09305	1.286000	0.44565	0.462000	0.41574	GCG	WDR81	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000167716		0.607	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2		0	25	0	C	NM_152348		1629539	1			no_errors	ENST00000409644	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.002	T	T	1629539	C	T	1629539	3	4	161	1	0	0	0	0	1	0	0	0	17379	768	27	1	1350	1	WDR81	17	1629539	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09		1629539	79565671	113	41031											
SLC16A11	162515	genome.wustl.edu	37	chr17	6945037	6945037	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggagccagggcctcctggGgacagcaagactgcctgggg	7	5	18	11	0	0	1	0	0	0	1	1	3	1	3	4	6	3	1	4	6	1	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr17:6945037G>A	ENST00000308009.1	-	4	1714	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S	SLC16A11_ENST00000447225.1_Silent_p.S427S	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	459					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGCCTCCTGGGGACAGCAAGA	0.597																																																	0													22	27	25					17																	6945037		2203	4297	6500	SO:0001819	synonymous_variant	0			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.1377C>T	17.37:g.6945037G>A				Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S459	ENST00000308009.1	37	c.1377	CCDS11086.1	17																																																																																			SLC16A11	-	NULL	ENSG00000174326		0.597	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC16A11	HGNC	protein_coding	OTTHUMT00000219921.1	-	0	25	0	G	NM_153357		6945037	-1	tier1	-	no_errors	ENST00000308009	ensembl	human	known	74_37	silent	78.95	4	15	SNP	0.006	A	A	6945037	G	A	6945037	2	1	161	1	0	0	0	0	0	0	0	1	14449	1219	43	3		3	SLC16A11	17	6945037	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	5315498	6945037	74250173	114	41032											
TP53	7157	genome.wustl.edu	37	chr17	7577115	7577115	+	Frame_Shift_Del	DEL	A	A	-																															gtctctcccaggacaggcacAaacacgcacctcaaagctgt																										TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr17:7577115delA	ENST00000269305.4	-	8	1012	c.823delT	c.(823-825)tgtfs	p.C275fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.C275fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.C275fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.C275fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C275fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGACAGGCACAAACACGCACC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	36	Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Insertion - Frameshift(2)|Unknown(2)	bone(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|oesophagus(2)|peritoneum(1)|urinary_tract(1)|skin(1)|lung(1)|prostate(1)											70	60	64					17																	7577115		2203	4300	6503	SO:0001589	frameshift_variant	0	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.823delT	17.37:g.7577115delA	ENSP00000269305:p.Cys275fs		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C275fs	ENST00000269305.4	37	c.823	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	40	0	A	NM_000546		7577115	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	50.00	8	8	DEL	1.000	-	-	7577115	A	-	7577115	7	5	161	1	0	1	0	1	0	0	0	0	16429	130	5	0	463	0	TP53	17	7577115	Frame_Shift_Del	DEL	A	TCGA-VR-A8EO-01A-11D-A36J-09	632078	7577115	73618095	115	41033											
TP53	7157	genome.wustl.edu	37	chr17	7578407	7578407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcatggtgggggcagcGcctcacaacctccgtcatgt	6	8	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	2	2	3	3	1	0	rs138729528		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr17:7578407G>C	ENST00000269305.4	-	5	712	c.523C>G	c.(523-525)Cgc>Ggc	p.R175G	TP53_ENST00000445888.2_Missense_Mutation_p.R175G|TP53_ENST00000420246.2_Missense_Mutation_p.R175G|TP53_ENST00000413465.2_Missense_Mutation_p.R175G|TP53_ENST00000455263.2_Missense_Mutation_p.R175G|TP53_ENST00000359597.4_Missense_Mutation_p.R175G|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGGGGCAGCGCCTCACAACC	0.657		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"	93	Substitution - Missense(54)|Deletion - Frameshift(19)|Deletion - In frame(8)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	large_intestine(25)|lung(19)|breast(11)|upper_aerodigestive_tract(8)|oesophagus(7)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|liver(4)|bone(4)|stomach(2)|salivary_gland(2)|urinary_tract(2)|cervix(1)	GRCh37	CM011013	TP53	M	rs138729528						50	50	50					17																	7578407		2203	4300	6503	SO:0001583	missense	0	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.523C>G	17.37:g.7578407G>C	ENSP00000269305:p.Arg175Gly		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175G	ENST00000269305.4	37	c.523	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570086	0.65765	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99891	-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56	5.41	2.14	0.27477	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99862	0.9935	M	0.92784	3.345	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.987;1.0;0.999;0.992;0.975;1.0	D	0.98196	1.0465	10	0.87932	D	0	-11.8679	4.599	0.12343	0.171:0.0:0.5642:0.2648	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175G;ENSP00000352610:R175G;ENSP00000269305:R175G;ENSP00000398846:R175G;ENSP00000391127:R175G;ENSP00000391478:R175G;ENSP00000425104:R43G;ENSP00000423862:R82G	ENSP00000269305:R175G	R	-	1	0	TP53	7519132	1.000000	0.71417	0.786000	0.31890	0.745000	0.42441	4.630000	0.61297	0.778000	0.33520	-0.140000	0.14226	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.657	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	41	0	G	NM_000546		7578407	-1	tier1	rs138729528	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	38.10	13	8	SNP	0.997	C	C	7578407	G	C	7578407	3	2	161	1	0	0	0	0	1	0	0	0	16429	1087	38	5	775	5	TP53	17	7578407	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	1292	7578407	73616803	116	41034											
TLCD1	116238	genome.wustl.edu	37	chr17	27051812	27051812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgattttcatcatcatgcGaatggtgaggaagatgttgc	11	13	11	6	1	3	3	3	2	0	1	3	5	3	4	0	2	2	1	0	2	2	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr17:27051812G>T	ENST00000292090.3	-	4	570	c.460C>A	c.(460-462)Cgc>Agc	p.R154S	SNORD4A_ENST00000459174.1_RNA|TLCD1_ENST00000394933.3_Missense_Mutation_p.R107S|AC010761.8_ENST00000582718.1_RNA|SNORD4B_ENST00000459083.1_RNA|AC010761.14_ENST00000587898.1_RNA|SNORD42A_ENST00000459584.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	154	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					ATCATCATGCGAATGGTGAGG	0.507																																																	0													122	115	117					17																	27051812		2203	4300	6503	SO:0001583	missense	0			BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.460C>A	17.37:g.27051812G>T	ENSP00000292090:p.Arg154Ser		A8MYP9	Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.R154S	ENST00000292090.3	37	c.460	CCDS11242.1	17	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475827	0.63737	.	.	ENSG00000160606	ENST00000292090;ENST00000394933	D;D	0.85411	-1.98;-1.98	5.91	2.36	0.29203	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.91362	0.7275	M	0.78456	2.415	0.45403	D	0.998389	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91659	0.5341	10	0.59425	D	0.04	2.3915	14.1149	0.65146	0.0:0.0:0.59:0.41	.	107;154	A8MYP9;Q96CP7	.;TLCD1_HUMAN	S	154;107	ENSP00000292090:R154S;ENSP00000378391:R107S	ENSP00000292090:R154S	R	-	1	0	TLCD1	24075939	0.962000	0.33011	0.471000	0.27229	0.812000	0.45895	1.534000	0.36051	0.751000	0.32900	0.462000	0.41574	CGC	TLCD1	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000160606		0.507	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLCD1	HGNC	protein_coding	OTTHUMT00000255973.1		0	49	0	G	NM_138463		27051812	-1			no_errors	ENST00000292090	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.270	T	T	27051812	G	T	27051812	3	4	161	1	0	0	0	0	1	0	0	0	15984	1058	37	2	287	2	TLCD1	17	27051812	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	19473405	27051812	54143398	117	41035											
NF1	4763	genome.wustl.edu	37	chr17	29562747	29562747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgcagactctcttccGaggcaacagcttggccagta	9	9	9	14	1	1	1	0	0	1	1	4	2	3	1	3	2	3	4	3	2	2	3	rs137854556		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr17:29562747G>T	ENST00000358273.4	+	28	4210	c.3827G>T	c.(3826-3828)cGa>cTa	p.R1276L	NF1_ENST00000356175.3_Missense_Mutation_p.R1276L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1276	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.		R -> G (in NF1; dbSNP:rs199474742). {ECO:0000269|PubMed:15060124}.|R -> P (in NF1; complete loss of GAP activity; dbSNP:rs137854556). {ECO:0000269|PubMed:10712197, ECO:0000269|PubMed:9668168}.|R -> Q (in NF1 and mismatch repair deficient cancer cells; dbSNP:rs137854556). {ECO:0000269|PubMed:10712197, ECO:0000269|PubMed:12522551, 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.?(4)|p.R1276Q(2)	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)		ACTCTCTTCCGAGGCAACAGC	0.398			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	soft_tissue(7)|large_intestine(2)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	GRCh37	CM000802|CM983421	NF1	M	rs137854556						165	161	163					17																	29562747		2203	4300	6503	SO:0001583	missense	0	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.3827G>T	17.37:g.29562747G>T	ENSP00000351015:p.Arg1276Leu		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.R1276L	ENST00000358273.4	37	c.3827	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.446474	0.96187	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.93426	-3.22;-3.22;-3.22	6.16	6.16	0.99307	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (3);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	H	0.97829	4.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.992;1.0	D;D;D;D	0.97110	1.0;1.0;0.979;1.0	D	0.98581	1.0650	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1276;326;1276;1276	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	L	1276;1276;942	ENSP00000351015:R1276L;ENSP00000348498:R1276L;ENSP00000389907:R942L	ENSP00000348498:R1276L	R	+	2	0	NF1	26586873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.212000	0.95126	2.937000	0.99478	0.650000	0.86243	CGA	NF1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP	ENSG00000196712		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2		0	39	0	G	NM_000267		29562747	1			no_errors	ENST00000358273	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	29562747	G	T	29562747	3	4	161	1	0	0	0	0	1	0	0	0	10395	1058	37	2	3998	2	NF1	17	29562747	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	2510935	29562747	51632463	118	41036											
AATF	26574	genome.wustl.edu	37	chr17	35310415	35310415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccttgggagcagtgaGgaggaggaagacgaagagag	14	4	19	4	1	0	4	0	2	0	2	0	11	0	8	1	4	1	1	1	4	2	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr17:35310415G>T	ENST00000225402.5	+	3	764	c.513G>T	c.(511-513)gaG>gaT	p.E171D		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	171	Glu-rich.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|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 mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GGAGCAGTGAGGAGGAGGAAG	0.522																																					NSCLC(49;901 1159 19183 41572 46244)												0													157	144	148					17																	35310415		2203	4300	6503	SO:0001583	missense	0			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.513G>T	17.37:g.35310415G>T	ENSP00000225402:p.Glu171Asp		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	pfam_AATF_C	p.E171D	ENST00000225402.5	37	c.513	CCDS32632.1	17	.	.	.	.	.	.	.	.	.	.	G	6.760	0.509065	0.12883	.	.	ENSG00000108270	ENST00000225402	T	0.39056	1.1	5.8	2.61	0.31194	.	0.246542	0.48286	N	0.000194	T	0.29684	0.0741	L	0.46157	1.445	0.36527	D	0.870522	B	0.10296	0.003	B	0.09377	0.004	T	0.17379	-1.0371	10	0.10377	T	0.69	-9.8874	8.4014	0.32588	0.0728:0.0:0.4642:0.463	.	171	Q9NY61	AATF_HUMAN	D	171	ENSP00000225402:E171D	ENSP00000225402:E171D	E	+	3	2	AATF	32384528	0.015000	0.18098	0.995000	0.50966	0.901000	0.52897	-0.410000	0.07151	0.787000	0.33731	0.655000	0.94253	GAG	AATF	-	NULL	ENSG00000108270		0.522	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATF	HGNC	protein_coding	OTTHUMT00000451543.1	-	0	68	0	G	NM_012138		35310415	1	tier1	-	no_errors	ENST00000225402	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	35310415	G	T	35310415	3	4	161	1	0	0	0	0	1	0	0	0	25	991	35	3	523	3	AATF	17	35310415	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	5747668	35310415	45884795	119	41037											
DLX3	1747	genome.wustl.edu	37	chr17	48072324	48072324	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagctggagatgtcggtGaggatgctgctgagcttgcg	7	9	19	6	2	0	3	0	2	0	1	1	6	0	5	0	4	5	4	0	4	0	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr17:48072324G>T	ENST00000434704.2	-	1	264	c.39C>A	c.(37-39)ctC>ctA	p.L13L	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	13					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						AGATGTCGGTGAGGATGCTGC	0.652																																																	0													52	48	49					17																	48072324		2203	4300	6503	SO:0001819	synonymous_variant	0				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.39C>A	17.37:g.48072324G>T			B3KQL6	Silent	SNP	pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.L13	ENST00000434704.2	37	c.39	CCDS11556.1	17																																																																																			DLX3	-	NULL	ENSG00000064195		0.652	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX3	HGNC	protein_coding	OTTHUMT00000366307.1	-	0	34	0	G			48072324	-1	tier1	-	no_errors	ENST00000434704	ensembl	human	known	74_37	silent	13.79	25	4	SNP	1.000	T	T	48072324	G	T	48072324	2	4	161	1	0	0	0	0	0	0	0	1	4586	1277	45	3		3	DLX3	17	48072324	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	12761909	48072324	33122886	120	41038											
GPR142	350383	genome.wustl.edu	37	chr17	72363872	72363872	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggccatccaaggactcCagcagtttccgccaggtgaa	12	7	10	12	1	0	1	0	1	0	0	3	2	3	2	5	3	1	2	5	3	3	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr17:72363872C>A	ENST00000335666.4	+	1	276	c.228C>A	c.(226-228)tcC>tcA	p.S76S		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	76						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCAAGGACTCCAGCAGTTTCC	0.562																																																	0													54	50	51					17																	72363872		2203	4300	6503	SO:0001819	synonymous_variant	0			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.228C>A	17.37:g.72363872C>A			A4CYJ8|Q86SL3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S76	ENST00000335666.4	37	c.228	CCDS11698.1	17																																																																																			GPR142	-	NULL	ENSG00000257008		0.562	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	-	0	30	0	C	NM_181790		72363872	1	tier1	-	no_errors	ENST00000335666	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.991	A	A	72363872	C	A	72363872	2	1	161	1	0	0	0	0	0	0	0	1	6676	581	21	3		3	GPR142	17	72363872	Silent	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	24291548	72363872	8831338	121	41039											
FLJ35220	284131	genome.wustl.edu	37	chr17	78397414	78397414	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggatgggctggagaacaaCgccctgcacaaggagaaggt	12	5	16	8	1	0	2	0	0	0	2	0	5	0	3	1	5	3	2	1	5	4	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr17:78397414C>T	ENST00000518137.1	+	5	526	c.498C>T	c.(496-498)aaC>aaT	p.N166N	ENDOV_ENST00000518644.1_Silent_p.N83N|ENDOV_ENST00000518907.1_5'UTR|ENDOV_ENST00000518901.1_5'UTR|ENDOV_ENST00000517295.2_Silent_p.N83N|ENDOV_ENST00000517795.1_5'UTR|ENDOV_ENST00000522751.1_5'UTR|ENDOV_ENST00000520284.1_5'UTR|ENDOV_ENST00000323854.5_Silent_p.N121N|ENDOV_ENST00000520367.1_Silent_p.N121N	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	166					DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566)			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						TGGAGAACAACGCCCTGCACA	0.642								Direct reversal of damage																																									0													36	41	39					17																	78397414		2024	4088	6112	SO:0001819	synonymous_variant	0				CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818			26640	protein-coding gene	gene with protein product						12853604	Standard	NM_001164638		Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000518137.1:c.498C>T	17.37:g.78397414C>T			I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Missense_Mutation	SNP	pfam_Endonuclease-V	p.T108M	ENST00000518137.1	37	c.323	CCDS54172.1	17	.	.	.	.	.	.	.	.	.	.	C	4.158	0.027811	0.08054	.	.	ENSG00000173818	ENST00000521634	.	.	.	4.36	-4.28	0.03732	.	.	.	.	.	T	0.33760	0.0874	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35599	-0.9782	4	.	.	.	-3.0545	11.755	0.51870	0.0:0.4336:0.0:0.5664	.	.	.	.	M	32	.	.	T	+	2	0	ENDOV	76012009	0.000000	0.05858	0.000000	0.03702	0.765000	0.43378	-1.204000	0.03017	-1.126000	0.02929	-0.251000	0.11542	ACG	ENDOV	-	NULL	ENSG00000173818		0.642	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENDOV	HGNC	protein_coding	OTTHUMT00000379487.1		0	116	0	C	NM_173627		78397414	1			no_errors	ENST00000522577	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.001	T	T	78397414	C	T	78397414	2	4	161	1	0	0	0	0	0	0	0	1	5949	535	19	1		1	FLJ35220	17	78397414	Silent	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	6033542	78397414	2797796	122	41040											
HGS	9146	genome.wustl.edu	37	chr17	79662971	79662971	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctcactcttccagtcCatcaacggcatgcacccgca	8	9	7	17	2	3	0	2	0	2	0	6	0	5	0	3	1	3	4	3	1	1	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr17:79662971C>T	ENST00000329138.4	+	15	1470	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	445	Interaction with SNAP25 and TRAK2. {ECO:0000250}.|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)			TCTTCCAGTCCATCAACGGCA	0.652																																																	0													65	51	56					17																	79662971		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1335C>T	17.37:g.79662971C>T			Q9NR36	Silent	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.S445	ENST00000329138.4	37	c.1335	CCDS11784.1	17																																																																																			HGS	-	pfam_HRS_helical,pirsf_Ubi-bd_Hrs_VPS27	ENSG00000185359		0.652	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	-	0	35	0	C	NM_004712		79662971	1	tier1	-	no_errors	ENST00000329138	ensembl	human	known	74_37	silent	45.83	13	11	SNP	1.000	T	T	79662971	C	T	79662971	2	4	161	1	0	0	0	0	0	0	0	1	7114	581	21	3		3	HGS	17	79662971	Silent	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	1265557	79662971	1532239	123	41041											
APC2	10297	genome.wustl.edu	37	chr19	1456085	1456085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcctgagcagatccgcgcctCgcgcctggagcagattgaca	8	7	12	14	4	0	4	0	2	0	2	3	5	2	5	4	1	2	2	4	1	0	1	rs565260681		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:1456085C>G	ENST00000535453.1	+	6	2363	c.650C>G	c.(649-651)tCg>tGg	p.S217W	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.S217W			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		ATCCGCGCCTCGCGCCTGGAG	0.701													C|||	1	0.000199681	0	0	5008	,	,		12367	0.001		0	False		,,,				2504	0																0													12	14	14					19																	1456085		2183	4286	6469	SO:0001583	missense	0				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.650C>G	19.37:g.1456085C>G	ENSP00000442954:p.Ser217Trp		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo	p.S217W	ENST00000535453.1	37	c.650	CCDS12068.1	19	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857304	0.71834	.	.	ENSG00000115266	ENST00000233607;ENST00000535453	D;D	0.90900	-2.75;-2.75	3.79	3.79	0.43588	.	0.406210	0.22063	U	0.065156	D	0.92805	0.7712	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.93183	0.6576	10	0.87932	D	0	-7.7863	12.545	0.56195	0.0:1.0:0.0:0.0	.	216;217	O95996-3;O95996	.;APC2_HUMAN	W	217	ENSP00000233607:S217W;ENSP00000442954:S217W	ENSP00000233607:S217W	S	+	2	0	APC2	1407085	0.995000	0.38212	0.392000	0.26245	0.828000	0.46876	5.621000	0.67743	1.971000	0.57363	0.306000	0.20318	TCG	APC2	-	NULL	ENSG00000115266		0.701	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	APC2	HGNC	protein_coding	OTTHUMT00000449539.2		0	15	0	C	NM_005883		1456085	1			no_errors	ENST00000233607	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.982	G	G	1456085	C	G	1456085	3	3	161	1	0	0	0	0	1	0	0	0	764	893	31	5	672	5	APC2	19	1456085	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09		1456085	57672898	124	41042											
RFX2	5990	genome.wustl.edu	37	chr19	5997222	5997222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggtcccggatcaccatgGagctggggacaagcggacag	10	5	15	11	2	2	0	2	0	0	0	3	4	3	4	2	6	2	1	2	6	1	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:5997222G>T	ENST00000303657.5	-	16	2011	c.1862C>A	c.(1861-1863)tCc>tAc	p.S621Y	RFX2_ENST00000359161.3_Missense_Mutation_p.S621Y|RFX2_ENST00000592546.1_Missense_Mutation_p.S596Y|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	621					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						GATCACCATGGAGCTGGGGAC	0.642																																					Colon(38;171 817 19800 47433 48051)												0													49	39	42					19																	5997222		2203	4300	6503	SO:0001583	missense	0				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.1862C>A	19.37:g.5997222G>T	ENSP00000306335:p.Ser621Tyr		A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.S621Y	ENST00000303657.5	37	c.1862	CCDS12157.1	19	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918050	0.92249	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.49139	0.79	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82259	-0.0546	10	0.87932	D	0	-44.6037	17.1348	0.86736	0.0:0.0:1.0:0.0	.	596;621	P48378-2;P48378	.;RFX2_HUMAN	Y	621;596;408	ENSP00000306335:S621Y	ENSP00000306335:S621Y	S	-	2	0	RFX2	5948222	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.661000	0.98601	2.374000	0.81015	0.655000	0.94253	TCC	RFX2	-	NULL	ENSG00000087903		0.642	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	HGNC	protein_coding	OTTHUMT00000452687.1	-	0	67	0	G	NM_000635		5997222	-1	tier1	-	no_errors	ENST00000303657	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	5997222	G	T	5997222	3	4	161	1	0	0	0	0	1	0	0	0	13308	1174	41	3	321	3	RFX2	19	5997222	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	4541137	5997222	53131761	125	41043											
ZNF562	54811	genome.wustl.edu	37	chr19	9771405	9771405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggacttaccatgggacaTatcaaaggctgacatcctct	13	9	8	11	0	2	1	1	1	1	0	3	3	3	3	2	3	1	1	2	3	4	2	rs372227919		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:9771405T>C	ENST00000448622.1	-	2	178	c.16A>G	c.(16-18)Atg>Gtg	p.M6V	ZNF562_ENST00000453792.2_Intron|ZNF562_ENST00000453372.2_Missense_Mutation_p.M6V|ZNF562_ENST00000541032.1_De_novo_Start_InFrame|ZNF562_ENST00000590155.1_Missense_Mutation_p.M6V|ZNF562_ENST00000587392.1_Missense_Mutation_p.M6V|ZNF562_ENST00000537617.1_De_novo_Start_OutOfFrame|ZNF562_ENST00000293648.4_Missense_Mutation_p.M6V	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CCATGGGACATATCAAAGGCT	0.488																																																	0													271	229	243					19																	9771405		2203	4300	6503	SO:0001583	missense	0			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"Zinc fingers, C2H2-type", "-"	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.16A>G	19.37:g.9771405T>C	ENSP00000411784:p.Met6Val		Q32MN2|Q9NXS5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M6V	ENST00000448622.1	37	c.16	CCDS45956.1	19	.	.	.	.	.	.	.	.	.	.	A	1.127	-0.653417	0.03480	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648	T;T;T	0.06142	3.34;3.34;3.42	1.55	-3.1	0.05315	.	.	.	.	.	T	0.02380	0.0073	N	0.08118	0	0.09310	N	0.999996	B;B;B	0.16603	0.0;0.0;0.018	B;B;B	0.18871	0.0;0.0;0.023	T	0.39683	-0.9602	9	0.22706	T	0.39	.	0.4351	0.00478	0.2018:0.17:0.2878:0.3404	.	6;6;6	B4DMG0;Q6V9R5;Q6V9R5-2	.;ZN562_HUMAN;.	V	6	ENSP00000410734:M6V;ENSP00000411784:M6V;ENSP00000293648:M6V	ENSP00000293648:M6V	M	-	1	0	ZNF562	9632405	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.712000	0.01885	-2.763000	0.00369	-0.958000	0.02645	ATG	ZNF562	-	NULL	ENSG00000171466		0.488	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF562	HGNC	protein_coding	OTTHUMT00000450239.1	-	0	73	0	T	NM_017656		9771405	-1	tier1	-	no_errors	ENST00000448622	ensembl	human	known	74_37	missense	23.08	30	9	SNP	0.000	C	C	9771405	T	C	9771405	3	2	161	1	0	0	0	0	1	0	0	0	18041	1406	49	4	1284	4	ZNF562	19	9771405	Missense_Mutation	SNP	T	TCGA-VR-A8EO-01A-11D-A36J-09	3774183	9771405	49357578	126	41044											
DCAF15	90379	genome.wustl.edu	37	chr19	14066943	14066943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggcccccagcacccgctCggccaacgggatgctcatga	7	5	12	17	3	1	1	1	1	0	0	2	2	1	2	4	3	3	4	4	3	1	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:14066943C>T	ENST00000254337.6	+	5	503	c.482C>T	c.(481-483)tCg>tTg	p.S161L	PODNL1_ENST00000538371.2_5'Flank|PODNL1_ENST00000538517.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	161					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						AGCACCCGCTCGGCCAACGGG	0.677																																																	0													26	23	24					19																	14066943		2200	4298	6498	SO:0001583	missense	0			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.482C>T	19.37:g.14066943C>T	ENSP00000254337:p.Ser161Leu		B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	NULL	p.S161L	ENST00000254337.6	37	c.482	CCDS32926.1	19	.	.	.	.	.	.	.	.	.	.	c	18.93	3.728207	0.69074	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.14	4.14	0.48551	.	0.193352	0.36409	N	0.002614	T	0.76292	0.3967	M	0.62723	1.935	0.49483	D	0.999793	D	0.89917	1.0	D	0.83275	0.996	T	0.79988	-0.1571	9	0.87932	D	0	-10.8211	15.5535	0.76173	0.0:1.0:0.0:0.0	.	161	Q66K64	DCA15_HUMAN	L	161	.	ENSP00000254337:S161L	S	+	2	0	DCAF15	13927943	0.993000	0.37304	0.910000	0.35882	0.796000	0.44982	2.669000	0.46825	2.039000	0.60335	0.549000	0.68633	TCG	DCAF15	-	NULL	ENSG00000132017		0.677	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF15	HGNC	protein_coding	OTTHUMT00000458099.1	-	0	64	0	C	NM_138353		14066943	1	tier1	-	no_errors	ENST00000254337	ensembl	human	known	74_37	missense	65.38	9	17	SNP	0.963	T	T	14066943	C	T	14066943	3	4	161	1	0	0	0	0	1	0	0	0	4276	893	31	1	500	1	DCAF15	19	14066943	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	4295538	14066943	45062040	127	41045											
ANKLE1	126549	genome.wustl.edu	37	chr19	17396582	17396582	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattgcttccagcacgtggtCgctgtggaggcttatacacg	7	11	12	11	3	0	0	0	0	0	0	2	1	1	1	1	3	3	4	1	3	2	4	rs370950297		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:17396582C>T	ENST00000394458.3	+	8	1905	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Intron|ANKLE1_ENST00000404085.1_Silent_p.V539V|ANKLE1_ENST00000594072.1_Silent_p.V506V	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	543	GIY-YIG. {ECO:0000255|PROSITE- ProRule:PRU00977}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						AGCACGTGGTCGCTGTGGAGG	0.582																																																	0								C		0,4406		0,0,2203	123	101	109		1629	-9.1	0.3	19		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ANKLE1	NM_152363.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		543/616	17396582	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1629C>T	19.37:g.17396582C>T			A8VU82|Q8N8J8	Silent	SNP	pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom	p.V543	ENST00000394458.3	37	c.1629	CCDS12354.2	19																																																																																			ANKLE1	-	NULL	ENSG00000160117		0.582	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	-	0	63	0	C	NM_152363		17396582	1	tier1	-	no_errors	ENST00000394458	ensembl	human	known	74_37	silent	30.00	21	9	SNP	0.394	T	T	17396582	C	T	17396582	2	4	161	1	0	0	0	0	0	0	0	1	632	871	31	1		1	ANKLE1	19	17396582	Silent	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	3329639	17396582	41732401	128	41046											
NDUFA13	51079	genome.wustl.edu	37	chr19	19638875	19638875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttgatcggggagctgtaCgggctgcgcaccacagagga	8	6	15	12	3	0	2	0	1	0	1	1	4	0	4	2	4	3	4	2	4	1	2	rs141026032	byFrequency	TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:19638875C>T	ENST00000507754.4	+	5	859	c.375C>T	c.(373-375)taC>taT	p.Y125Y	CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000252576.5_Silent_p.Y208Y|YJEFN3_ENST00000608404.1_Intron|CTC-260F20.3_ENST00000555938.1_Intron|NDUFA13_ENST00000503283.1_Intron|YJEFN3_ENST00000514277.4_5'Flank|YJEFN3_ENST00000436027.5_5'Flank|NDUFA13_ENST00000512771.3_Silent_p.Y125Y			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	125	Important for inducing cell death.				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						GGGAGCTGTACGGGCTGCGCA	0.667																																																	0								C		0,4406		0,0,2203	46	41	43		375	-8.9	0	19	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NDUFA13	NM_015965.6		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		125/145	19638875	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.375C>T	19.37:g.19638875C>T			B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	pfam_GRIM-19	p.Y208	ENST00000507754.4	37	c.624	CCDS12404.2	19																																																																																			NDUFA13	-	pfam_GRIM-19	ENSG00000186010		0.667	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NDUFA13	HGNC	protein_coding	OTTHUMT00000367916.6	-	0	141	0	C	NM_015965		19638875	1	tier1	rs141026032	no_errors	ENST00000252576	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.003	T	T	19638875	C	T	19638875	2	4	161	1	0	0	0	0	0	0	0	1	10302	547	19	1		1	NDUFA13	19	19638875	Silent	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	2242293	19638875	39490108	129	41047											
ZNF569	148266	genome.wustl.edu	37	chr19	37904475	37904475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatggaaaactgagagaagGctttaccacatttatcacat	15	10	8	8	0	1	2	1	1	0	1	1	4	1	3	1	2	2	2	1	2	5	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:37904475G>T	ENST00000316950.6	-	6	1642	c.1085C>A	c.(1084-1086)gCc>gAc	p.A362D	ZNF569_ENST00000392150.2_Missense_Mutation_p.A203D|ZNF569_ENST00000392149.2_Missense_Mutation_p.A362D	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	362					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)			CTGAGAGAAGGCTTTACCACA	0.368																																																	0													82	79	80					19																	37904475		2203	4300	6503	SO:0001583	missense	0			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.1085C>A	19.37:g.37904475G>T	ENSP00000325018:p.Ala362Asp		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A362D	ENST00000316950.6	37	c.1085	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027350	0.35797	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.14266	2.52;2.52	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.211384	0.23863	N	0.043834	T	0.17959	0.0431	L	0.60012	1.86	0.33628	D	0.605628	P;P	0.44946	0.846;0.643	P;B	0.44860	0.462;0.357	T	0.24870	-1.0148	10	0.66056	D	0.02	.	10.5912	0.45310	0.0:0.3283:0.6717:0.0	.	203;362	Q17RR6;Q5MCW4	.;ZN569_HUMAN	D	362;18;203	ENSP00000325018:A362D;ENSP00000375993:A203D	ENSP00000325018:A362D	A	-	2	0	ZNF569	42596315	0.000000	0.05858	1.000000	0.80357	0.985000	0.73830	-0.478000	0.06575	2.204000	0.70986	0.655000	0.94253	GCC	ZNF569	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196437		0.368	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2		0	77	0	G	NM_152484		37904475	-1			no_errors	ENST00000316950	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.946	T	T	37904475	G	T	37904475	3	4	161	1	0	0	0	0	1	0	0	0	18048	1203	42	3	979	3	ZNF569	19	37904475	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	18265600	37904475	21224508	130	41048											
MRPS12	6183	genome.wustl.edu	37	chr19	39422990	39422990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccagctctggttcccCggctctgggctacctgctcc	3	9	11	18	1	2	0	0	0	2	0	4	0	4	0	5	4	3	5	5	4	1	2	rs150096976	byFrequency	TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:39422990C>T	ENST00000407800.2	+	2	408	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	MRPS12_ENST00000308018.4_Missense_Mutation_p.R23W|CTC-360G5.8_ENST00000599996.1_Intron|CTC-360G5.9_ENST00000599320.1_lincRNA|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_5'Flank|SARS2_ENST00000221431.6_5'Flank|SARS2_ENST00000594171.1_5'Flank|SARS2_ENST00000600042.1_5'Flank|MRPS12_ENST00000402029.3_Missense_Mutation_p.R23W	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	23					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)			TCTGGTTCCCCGGCTCTGGGC	0.607																																																	0								C	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	42	49	47		67,67,67	3.5	0.1	19	dbSNP_134	47	0,8600		0,0,4300	no	missense,missense,missense	MRPS12	NM_021107.1,NM_033362.3,NM_033363.1	101,101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	23/139,23/139,23/139	39422990	2,13004	2203	4300	6503	SO:0001583	missense	0			Y11681	CCDS12525.1	19q13.1-q13.2	2012-09-13			ENSG00000128626	ENSG00000128626		"Mitochondrial ribosomal proteins / small subunits"	10380	protein-coding gene	gene with protein product		603021		RPMS12		9545647, 9790755	Standard	NM_021107		Approved	RPS12, RPSM12	uc002oke.3	O15235		ENST00000407800.2:c.67C>T	19.37:g.39422990C>T	ENSP00000384952:p.Arg23Trp		Q53X98	Missense_Mutation	SNP	pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_S12/S23,prints_Ribosomal_S12_bac,tigrfam_Ribosomal_S12_bac	p.R23W	ENST00000407800.2	37	c.67	CCDS12525.1	19	.	.	.	.	.	.	.	.	.	.	C	9.245	1.039349	0.19669	4.54E-4	0.0	ENSG00000128626	ENST00000308018;ENST00000407800;ENST00000402029	T;T;T	0.48201	0.82;0.82;0.82	5.63	3.5	0.40072	.	1.379600	0.04404	N	0.364758	T	0.37073	0.0990	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.31888	-0.9927	10	0.87932	D	0	-13.6901	8.3656	0.32385	0.0:0.6241:0.2962:0.0797	.	23	O15235	RT12_HUMAN	W	23	ENSP00000308845:R23W;ENSP00000384952:R23W;ENSP00000384579:R23W	ENSP00000308845:R23W	R	+	1	2	MRPS12	44114830	0.000000	0.05858	0.079000	0.20413	0.071000	0.16799	0.651000	0.24873	0.839000	0.34971	0.655000	0.94253	CGG	MRPS12	-	NULL	ENSG00000128626		0.607	MRPS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS12	HGNC	protein_coding	OTTHUMT00000463154.1	-	0	101	0	C			39422990	1	tier1	rs150096976	no_errors	ENST00000308018	ensembl	human	known	74_37	missense	44.30	44	35	SNP	0.127	T	T	39422990	C	T	39422990	3	4	161	1	0	0	0	0	1	0	0	0	9861	643	23	1	73	1	MRPS12	19	39422990	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	1518515	39422990	19705993	131	41049											
SUPT5H	6829	genome.wustl.edu	37	chr19	39949653	39949653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgctccagggaccagcGagaagaagaactgggcgagt	11	5	15	10	3	0	3	0	0	0	3	2	6	1	4	2	2	3	1	2	2	3	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:39949653G>T	ENST00000599117.1	+	8	765	c.398G>T	c.(397-399)cGa>cTa	p.R133L	SUPT5H_ENST00000402194.2_Missense_Mutation_p.R129L|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R129L|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R133L|SUPT5H_ENST00000432763.2_Missense_Mutation_p.R133L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	133					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)	p.R133P(1)		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)			AGGGACCAGCGAGAAGAAGAA	0.567																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											122	112	116					19																	39949653		2203	4300	6503	SO:0001583	missense	0			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.398G>T	19.37:g.39949653G>T	ENSP00000470252:p.Arg133Leu		O43279|Q59G52|Q99639	Missense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5	p.R133L	ENST00000599117.1	37	c.398	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966554	0.92855	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.48	4.48	0.54585	Spt5 transcription elongation factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	L	0.40543	1.245	0.80722	D	1	P;P	0.48350	0.889;0.909	B;P	0.48166	0.433;0.569	T	0.54735	-0.8249	8	.	.	.	-6.0125	16.4662	0.84079	0.0:0.0:1.0:0.0	.	129;133	O00267-2;O00267	.;SPT5H_HUMAN	L	133;129;111;133	.	.	R	+	2	0	SUPT5H	44641493	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.600000	0.98282	2.507000	0.84556	0.650000	0.86243	CGA	SUPT5H	-	pfam_Spt5_N,pirsf_TF_Spt5	ENSG00000196235		0.567	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1		0	67	0	G	NM_003169		39949653	1			no_errors	ENST00000432763	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	39949653	G	T	39949653	3	4	161	1	0	0	0	0	1	0	0	0	15446	1058	37	2	420	2	SUPT5H	19	39949653	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	526663	39949653	19179330	132	41050											
BCAT2	587	genome.wustl.edu	37	chr19	49309924	49309924	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacaccaggggctcgccgggGccaggcttcttatgaggctt	7	8	14	12	2	1	1	0	1	1	0	2	1	1	1	3	6	1	3	3	6	2	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:49309924G>T	ENST00000316273.6	-	3	162	c.150C>A	c.(148-150)ggC>ggA	p.G50G	BCAT2_ENST00000402551.1_Silent_p.G10G|BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000598162.1_Silent_p.G50G|BCAT2_ENST00000601496.1_5'Flank|BCAT2_ENST00000597011.1_Silent_p.G10G|BCAT2_ENST00000599246.1_Intron	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	50					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		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;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	GCTCGCCGGGGCCAGGCTTCT	0.577																																																	0													86	89	88					19																	49309924		2203	4300	6503	SO:0001819	synonymous_variant	0			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"branched chain aminotransferase 2, mitochondrial"	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.150C>A	19.37:g.49309924G>T			B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Silent	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.G50	ENST00000316273.6	37	c.150	CCDS12735.1	19																																																																																			BCAT2	-	superfamily_Aminotrans_IV,pirsf_B_amino_transII	ENSG00000105552		0.577	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAT2	HGNC	protein_coding	OTTHUMT00000466202.1		0	74	0	G			49309924	-1			no_errors	ENST00000316273	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.000	T	T	49309924	G	T	49309924	2	4	161	1	0	0	0	0	0	0	0	1	1356	1190	42	3		3	BCAT2	19	49309924	Silent	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	9360271	49309924	9819059	133	41051											
SIGLEC5	8778	genome.wustl.edu	37	chr19	52132662	52132662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacctgagctccttggcGtttcatctgacaggtgaggt	6	12	13	10	1	3	3	2	3	1	0	4	3	4	3	2	4	1	2	2	4	0	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:52132662G>A	ENST00000534261.2	-	4	1048	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	SIGLEC5_ENST00000222107.4_Missense_Mutation_p.R217C|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.R217C|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.R217C|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.R217C			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	217	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)		GCTCCTTGGCGTTTCATCTGA	0.632																																																	0													121	108	112					19																	52132662		2203	4300	6503	SO:0001583	missense	0			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.649C>T	19.37:g.52132662G>A	ENSP00000473238:p.Arg217Cys			Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R217C	ENST00000534261.2	37	c.649	CCDS33088.1	19	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477397	0.44044	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.03242	4.0;4.0	3.69	-0.197	0.13228	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.984930	0.02595	N	0.100423	T	0.02929	0.0087	N	0.03608	-0.345	0.09310	N	1	D	0.67145	0.996	P	0.48368	0.575	T	0.21999	-1.0229	10	0.72032	D	0.01	.	4.0623	0.09844	0.2385:0.2564:0.505:0.0	.	217	O15389	SIGL5_HUMAN	C	217	ENSP00000222107:R217C;ENSP00000415200:R217C	ENSP00000222107:R217C	R	-	1	0	SIGLEC5	56824474	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.500000	0.06405	-0.026000	0.13895	0.491000	0.48974	CGC	SIGLEC5	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000105501		0.632	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SIGLEC5	HGNC	protein_coding	OTTHUMT00000466897.2	-	0	70	0	G	NM_003830		52132662	-1	tier1	-	no_errors	ENST00000222107	ensembl	human	known	74_37	missense	48.44	33	31	SNP	0.000	A	A	52132662	G	A	52132662	3	1	161	1	0	0	0	0	1	0	0	0	14356	1145	40	1	1034	1	SIGLEC5	19	52132662	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	2822738	52132662	6996321	134	41052											
ZNF614	80110	genome.wustl.edu	37	chr19	52520064	52520064	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagagccttttctatattCattgggtatacagattttgt	10	18	8	5	0	2	2	1	0	1	2	2	2	2	2	1	1	2	2	1	1	5	11			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:52520064C>A	ENST00000270649.6	-	5	1331	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTTCTATATTCATTGGGTATA	0.383																																																	0													64	63	64					19																	52520064		2203	4300	6503	SO:0001587	stop_gained	0			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.787G>T	19.37:g.52520064C>A	ENSP00000270649:p.Glu263*		Q494T8|Q8TCF4|Q9BSN8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E263*	ENST00000270649.6	37	c.787	CCDS12847.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.862355	0.97036	.	.	ENSG00000142556	ENST00000270649	.	.	.	3.76	2.65	0.31530	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.9964	0.47578	0.0:0.8103:0.1897:0.0	.	.	.	.	X	263	.	ENSP00000270649:E263X	E	-	1	0	ZNF614	57211876	0.003000	0.15002	0.015000	0.15790	0.010000	0.07245	0.959000	0.29240	1.933000	0.56026	0.655000	0.94253	GAA	ZNF614	-	NULL	ENSG00000142556		0.383	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF614	HGNC	protein_coding	OTTHUMT00000462407.1		0	34	0	C	NM_025040		52520064	-1			no_errors	ENST00000270649	ensembl	human	known	74_37	nonsense	6.12	46	3	SNP	0.010	A	A	52520064	C	A	52520064	4	1	161	1	0	0	0	0	0	1	0	0	18087	835	29	3	974	3	ZNF614	19	52520064	Nonsense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	387402	52520064	6608919	135	41053											
ZNF415	55786	genome.wustl.edu	37	chr19	53611721	53611721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacttcccacaatcactaCatttgtaaggtttctttcca	11	14	5	11	0	2	0	1	0	1	0	4	1	4	1	2	2	1	2	2	2	3	6			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:53611721C>T	ENST00000500065.4	-	4	1910	c.1577G>A	c.(1576-1578)tGt>tAt	p.C526Y	ZNF415_ENST00000243643.4_Missense_Mutation_p.C526Y|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.C513Y|ZNF415_ENST00000448501.1_Missense_Mutation_p.C574Y|ZNF415_ENST00000421033.1_Missense_Mutation_p.C538Y|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.C296Y|ZNF415_ENST00000455735.2_Missense_Mutation_p.C574Y|ZNF415_ENST00000595193.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	574					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)		ACAATCACTACATTTGTAAGG	0.378																																																	0													154	148	150					19																	53611721		2203	4300	6503	SO:0001583	missense	0			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.1577G>A	19.37:g.53611721C>T	ENSP00000439435:p.Cys526Tyr		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.C574Y	ENST00000500065.4	37	c.1721	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538953	0.45176	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	2.43	2.43	0.29744	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94026	0.8086	H	0.95712	3.71	0.27958	N	0.936898	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	0.998;1.0;0.999;0.998;0.998;1.0	D	0.86768	0.1971	9	0.72032	D	0.01	.	11.9477	0.52938	0.0:1.0:0.0:0.0	.	526;574;574;526;513;538	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	Y	526;526;574;538;574;513	ENSP00000243643:C526Y;ENSP00000439435:C526Y;ENSP00000396492:C574Y;ENSP00000395055:C538Y;ENSP00000388787:C574Y;ENSP00000414601:C513Y	ENSP00000243643:C526Y	C	-	2	0	ZNF415	58303533	0.647000	0.27304	0.005000	0.12908	0.068000	0.16541	3.614000	0.54160	1.370000	0.46153	0.313000	0.20887	TGT	ZNF415	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170954		0.378	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	-	0	193	0	C	NM_018355		53611721	-1	tier1	-	no_errors	ENST00000448501	ensembl	human	known	74_37	missense	24.71	63	21	SNP	0.632	T	T	53611721	C	T	53611721	3	4	161	1	0	0	0	0	1	0	0	0	17940	478	17	3	94	3	ZNF415	19	53611721	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	1091657	53611721	5517262	136	41054											
LILRB5	10990	genome.wustl.edu	37	chr19	54761022	54761022	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccccctcttcaaacctcaCcgaggcaaatcaggactgag	11	8	7	15	1	4	1	3	1	1	0	5	3	5	2	4	2	1	1	4	2	2	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:54761022C>T	ENST00000316219.5	-	1	142		c.e1+1		LILRB5_ENST00000449561.2_Splice_Site|LILRB5_ENST00000450632.1_Splice_Site|LILRB5_ENST00000345866.6_Splice_Site	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						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)		TCAAACCTCACCGAGGCAAAT	0.582																																																	0													83	77	79					19																	54761022		2203	4300	6503	SO:0001630	splice_region_variant	0			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.34+1G>A	19.37:g.54761022C>T			Q8N760	Splice_Site	SNP	-	e1+1	ENST00000316219.5	37	c.34+1	CCDS12885.1	19	.	.	.	.	.	.	.	.	.	.	.	10.91	1.483497	0.26598	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8749	0.41197	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LILRB5	59452834	0.777000	0.28628	0.845000	0.33349	0.057000	0.15508	3.218000	0.51192	1.747000	0.51819	0.573000	0.79308	.	LILRB5	-	-	ENSG00000105609		0.582	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	HGNC	protein_coding	OTTHUMT00000142877.2	-	0	77	0	C		Intron	54761022	-1	tier1	-	no_errors	ENST00000450632	ensembl	human	known	74_37	splice_site	12.50	28	4	SNP	0.978	T	T	54761022	C	T	54761022	5	4	161	1	0	0	0	0	0	0	1	0	8823	521	18	3	1792	3	LILRB5	19	54761022	Splice_Site	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	1149301	54761022	4367961	137	41055											
ZNF772	400720	genome.wustl.edu	37	chr19	57984884	57984884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaaagaacttcccacatgCgatgcactcataaggccttg	12	9	8	12	1	1	1	1	0	0	1	2	2	2	1	2	1	3	2	2	1	4	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr19:57984884C>T	ENST00000343280.4	-	5	1488	c.1228G>A	c.(1228-1230)Gca>Aca	p.A410T	ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.A369T|AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.A298T|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000425074.3_3'UTR	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		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)|Lung(386;0.174)		TTCCCACATGCGATGCACTCA	0.418																																					Melanoma(5;289 436 14293 15924 30817)												0													128	114	119					19																	57984884		2203	4300	6503	SO:0001583	missense	0			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.1228G>A	19.37:g.57984884C>T	ENSP00000341165:p.Ala410Thr		A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A410T	ENST00000343280.4	37	c.1228	CCDS33133.1	19	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405653	0.62288	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	T;T;T	0.07567	3.18;3.18;3.18	3.72	2.64	0.31445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.03084	-0.415	0.34007	D	0.651021	B;P;D	0.76494	0.401;0.665;0.999	B;B;D	0.83275	0.073;0.12;0.996	T	0.37197	-0.9716	9	0.87932	D	0	.	9.3404	0.38076	0.0:0.8855:0.0:0.1145	.	298;369;410	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	T	410;298;369;335	ENSP00000341165:A410T;ENSP00000395967:A298T;ENSP00000348992:A369T	ENSP00000291809:A335T	A	-	1	0	ZNF772	62676696	0.000000	0.05858	1.000000	0.80357	0.913000	0.54294	-0.320000	0.08028	1.917000	0.55516	0.305000	0.20034	GCA	ZNF772	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197128		0.418	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	HGNC	protein_coding	OTTHUMT00000397447.1		0	68	0	C	NM_001024596		57984884	-1			no_errors	ENST00000343280	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.498	T	T	57984884	C	T	57984884	3	4	161	1	0	0	0	0	1	0	0	0	18193	768	27	1	245	1	ZNF772	19	57984884	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	3223862	57984884	1144099	138	41056											
DEFB125	245938	genome.wustl.edu	37	chr20	76735	76735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggtacatacttctttgtAggaacaagctatcatgctgc	13	12	8	8	0	2	0	1	0	1	0	2	1	2	1	0	2	6	4	0	2	7	6			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr20:76735A>G	ENST00000382410.2	+	2	148	c.148A>G	c.(148-150)Agg>Ggg	p.R50G	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	50					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACTTCTTTGTAGGAACAAGCT	0.363																																																	0													159	150	153					20																	76735		2203	4300	6503	SO:0001583	missense	0			AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"Defensins, beta"	18105	protein-coding gene	gene with protein product	"beta defensin 25"					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.148A>G	20.37:g.76735A>G	ENSP00000371847:p.Arg50Gly		A1A502|Q7Z7B9	Missense_Mutation	SNP	NULL	p.R50G	ENST00000382410.2	37	c.148	CCDS12989.2	20	.	.	.	.	.	.	.	.	.	.	.	13.77	2.337097	0.41398	.	.	ENSG00000178591	ENST00000382410	T	0.11712	2.75	3.49	-1.59	0.08453	.	1.496170	0.04283	N	0.344217	T	0.08044	0.0201	N	0.22421	0.69	0.09310	N	1	P	0.47191	0.891	B	0.42282	0.382	T	0.21655	-1.0239	10	0.59425	D	0.04	-6.9504	3.9829	0.09503	0.4204:0.3721:0.2074:0.0	.	50	Q8N687	DB125_HUMAN	G	50	ENSP00000371847:R50G	ENSP00000371847:R50G	R	+	1	2	DEFB125	24735	0.813000	0.29090	0.170000	0.22879	0.730000	0.41778	0.072000	0.14617	-0.344000	0.08338	-0.313000	0.08912	AGG	DEFB125	-	NULL	ENSG00000178591		0.363	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB125	HGNC	protein_coding	OTTHUMT00000077426.2	-	0	62	0	A	NM_153325		76735	1	tier1	-	no_errors	ENST00000382410	ensembl	human	known	74_37	missense	28.89	32	13	SNP	0.235	G	G	76735	A	G	76735	3	3	161	1	0	0	0	0	1	0	0	0	4424	411	15	4	154	4	DEFB125	20	76735	Missense_Mutation	SNP	A	TCGA-VR-A8EO-01A-11D-A36J-09		76735	62948785	139	41057											
PANK2	80025	genome.wustl.edu	37	chr20	3891428	3891428	+	Missense_Mutation	SNP	A	A	T	1	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	acattggctcaggggttagcAtcttagcagtatattccaaa	12	12	9	8	0	2	0	1	0	1	0	3	0	3	0	1	3	2	5	1	3	5	6			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr20:3891428A>T	ENST00000316562.4	+	3	1192	c.1186A>T	c.(1186-1188)Atc>Ttc	p.I396F	PANK2_ENST00000610179.1_Missense_Mutation_p.I273F|PANK2_ENST00000497424.1_Missense_Mutation_p.I105F|PANK2_ENST00000464452.1_3'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	396					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						AGGGGTTAGCATCTTAGCAGT	0.383																																																	0													119	117	117					20																	3891428		2203	4300	6503	SO:0001583	missense	0			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.1186A>T	20.37:g.3891428A>T	ENSP00000313377:p.Ile396Phe		B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.I396F	ENST00000316562.4	37	c.1186	CCDS13071.2	20	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059832	0.76074	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	D;D	0.99709	-6.48;-6.48	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	M	0.69523	2.12	0.54753	D	0.999982	D	0.71674	0.998	D	0.66847	0.947	D	0.98143	1.0437	10	0.62326	D	0.03	.	11.7542	0.51866	1.0:0.0:0.0:0.0	.	396	Q9BZ23	PANK2_HUMAN	F	105;396;212	ENSP00000417609:I105F;ENSP00000313377:I396F	ENSP00000313377:I396F	I	+	1	0	PANK2	3839428	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.244000	0.78228	1.887000	0.54652	0.383000	0.25322	ATC	PANK2	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000125779		0.383	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANK2	HGNC	protein_coding	OTTHUMT00000077793.2	-	0	67	0	A	NM_024960		3891428	1	tier1	-	no_errors	ENST00000316562	ensembl	human	known	74_37	missense	48.94	24	23	SNP	1.000	T	T	3891428	A	T	3891428	3	4	161	1	0	0	0	0	1	0	0	0	11456	217	8	5	1196	5	PANK2	20	3891428	Missense_Mutation	SNP	A	TCGA-VR-A8EO-01A-11D-A36J-09	3814693	3891428	59134092	140	41058											
CHGB	1114	genome.wustl.edu	37	chr20	5904465	5904465	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgagctgaccttgaacGagaagaatttcttcccagaa	16	9	8	8	1	1	6	0	3	1	3	2	7	2	6	2	0	2	1	2	0	6	3	rs368972632		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr20:5904465G>T	ENST00000378961.4	+	4	1879	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	559						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.E559K(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GACCTTGAACGAGAAGAATTT	0.468																																																	1	Substitution - Missense(1)	lung(1)											68	66	66					20																	5904465		2203	4300	6503	SO:0001587	stop_gained	0				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1675G>T	20.37:g.5904465G>T	ENSP00000368244:p.Glu559*		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Nonsense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.E559*	ENST00000378961.4	37	c.1675	CCDS13092.1	20	.	.	.	.	.	.	.	.	.	.	G	39	7.573687	0.98368	.	.	ENSG00000089199	ENST00000378961	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.0199	13.2575	0.60087	0.0723:0.0:0.9277:0.0	.	.	.	.	X	559	.	ENSP00000368244:E559X	E	+	1	0	CHGB	5852465	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	2.998000	0.49465	2.728000	0.93425	0.561000	0.74099	GAG	CHGB	-	pfam_Granin	ENSG00000089199		0.468	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2		0	70	0	G	NM_001819		5904465	1			no_errors	ENST00000378961	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	T	T	5904465	G	T	5904465	4	4	161	1	0	0	0	0	0	1	0	0	3346	1059	37	2	1689	2	CHGB	20	5904465	Nonsense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	2013037	5904465	57121055	141	41059											
TASP1	55617	genome.wustl.edu	37	chr20	13567947	13567947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggattttccatccattatgCtggcatcacactcaatttca	11	14	5	11	0	3	0	3	0	0	0	5	1	5	1	2	2	1	2	2	2	2	4			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr20:13567947C>T	ENST00000337743.4	-	5	473	c.353G>A	c.(352-354)aGc>aAc	p.S118N	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	118					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						ATCCATTATGCTGGCATCACA	0.363																																																	0													188	172	177					20																	13567947		2203	4300	6503	SO:0001583	missense	0			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"chromosome 20 open reading frame 13"	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.353G>A	20.37:g.13567947C>T	ENSP00000338624:p.Ser118Asn		B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	pfam_Peptidase_T2	p.S118N	ENST00000337743.4	37	c.353	CCDS13116.1	20	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697210	0.88830	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.88664	-2.41;-2.41	5.44	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.95787	0.8629	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.989;0.995	D	0.96680	0.9503	10	0.87932	D	0	-6.6831	14.1405	0.65316	0.0:0.9276:0.0:0.0724	.	118;95	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	N	95;118;95	ENSP00000338624:S118N;ENSP00000400580:S95N	ENSP00000338624:S118N	S	-	2	0	TASP1	13515947	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.103000	0.77014	1.292000	0.44672	0.655000	0.94253	AGC	TASP1	-	pfam_Peptidase_T2	ENSG00000089123		0.363	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TASP1	HGNC	protein_coding	OTTHUMT00000078041.2	-	0	65	0	C	NM_017714		13567947	-1	tier1	-	no_errors	ENST00000337743	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	13567947	C	T	13567947	3	4	161	1	0	0	0	0	1	0	0	0	15636	797	28	3	949	3	TASP1	20	13567947	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	7663482	13567947	49457573	142	41060											
BCL2L1	598	genome.wustl.edu	37	chr20	30309595	30309595	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccccgccgaaggagaaaaAggccacaatgcgaccccagt	13	3	11	14	3	0	1	0	0	0	1	0	4	0	1	6	2	2	0	6	2	4	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr20:30309595A>G	ENST00000307677.4	-	2	837	c.427T>C	c.(427-429)Ttt>Ctt	p.F143L	BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000420653.1_Missense_Mutation_p.F143L|BCL2L1_ENST00000376062.2_Missense_Mutation_p.F143L	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	143					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)			AAGGAGAAAAAGGCCACAATG	0.537																																					Colon(51;693 1004 1401 20431 21026)												0													201	200	200					20																	30309595		2203	4300	6503	SO:0001583	missense	0			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.427T>C	20.37:g.30309595A>G	ENSP00000302564:p.Phe143Leu		E1P5L6|Q5CZ89|Q5TE65|Q92976	Missense_Mutation	SNP	pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclX,prints_Blc2_fam,tigrfam_Bcl2/BclX	p.F143L	ENST00000307677.4	37	c.427	CCDS13189.1	20	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534051	0.45073	.	.	ENSG00000171552	ENST00000376062;ENST00000307677;ENST00000420653;ENST00000450273;ENST00000420488;ENST00000456404;ENST00000422920;ENST00000439267	T;T;T;T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38;3.38;3.38;3.38	5.4	5.4	0.78164	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);Apoptosis regulator, Bcl-2, BH1 motif, conserved site (1);	0.051853	0.85682	D	0.000000	T	0.03095	0.0091	N	0.00879	-1.12	0.58432	D	0.999995	B	0.26081	0.141	B	0.34180	0.177	T	0.58567	-0.7614	10	0.29301	T	0.29	-7.7013	14.7657	0.69637	1.0:0.0:0.0:0.0	.	143	Q07817	B2CL1_HUMAN	L	143	ENSP00000365230:F143L;ENSP00000302564:F143L;ENSP00000405563:F143L;ENSP00000406203:F143L;ENSP00000390760:F143L;ENSP00000395545:F143L;ENSP00000411252:F143L;ENSP00000389688:F143L	ENSP00000302564:F143L	F	-	1	0	BCL2L1	29773256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.886000	0.69743	2.277000	0.76020	0.528000	0.53228	TTT	BCL2L1	-	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam,tigrfam_Bcl2/BclX	ENSG00000171552		0.537	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCL2L1	HGNC	protein_coding	OTTHUMT00000078575.1		0	136	0	A	NM_138578		30309595	-1			no_errors	ENST00000307677	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	G	G	30309595	A	G	30309595	3	3	161	1	0	0	0	0	1	0	0	0	1368	72	3	4	282	4	BCL2L1	20	30309595	Missense_Mutation	SNP	A	TCGA-VR-A8EO-01A-11D-A36J-09	16741648	30309595	32715925	143	41061											
GGT7	2686	genome.wustl.edu	37	chr20	33451262	33451262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacgggtctttgcgcgtctCgcgtagcggcgacccgtctt	4	10	14	13	8	3	0	0	0	3	0	4	2	3	0	1	2	3	1	1	2	2	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr20:33451262C>T	ENST00000336431.5	-	2	303	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	87					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TTGCGCGTCTCGCGTAGCGGC	0.687																																																	0													26	23	24					20																	33451262		2201	4297	6498	SO:0001583	missense	0			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.259G>A	20.37:g.33451262C>T	ENSP00000338964:p.Glu87Lys		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.E87K	ENST00000336431.5	37	c.259	CCDS13242.2	20	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781365	0.90282	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	T;T	0.37752	3.41;1.18	5.26	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	L	0.43152	1.355	0.46774	D	0.999192	D;D;D	0.89917	0.994;0.992;1.0	P;P;D	0.81914	0.777;0.466;0.995	T	0.50329	-0.8841	10	0.62326	D	0.03	-23.3732	13.2751	0.60182	0.0:0.9243:0.0:0.0757	.	87;87;87	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	K	87;104	ENSP00000338964:E87K;ENSP00000394993:E104K	ENSP00000338964:E87K	E	-	1	0	GGT7	32914923	1.000000	0.71417	0.936000	0.37596	0.607000	0.37147	4.883000	0.63128	2.472000	0.83506	0.650000	0.86243	GAG	GGT7	-	NULL	ENSG00000131067		0.687	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	-	0	37	0	C	NM_178026		33451262	-1	tier1	-	no_errors	ENST00000336431	ensembl	human	novel	74_37	missense	16.67	25	5	SNP	0.995	T	T	33451262	C	T	33451262	3	4	161	1	0	0	0	0	1	0	0	0	6390	893	31	1	1785	1	GGT7	20	33451262	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	3141667	33451262	29574258	144	41062											
WFDC8	90199	genome.wustl.edu	37	chr20	44184456	44184456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaagtcaaaatgccagCgctgtgcctcatgattacag	12	12	8	9	1	2	1	2	1	0	0	2	1	2	1	2	0	4	1	2	0	5	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr20:44184456C>T	ENST00000357199.4	-	4	407	c.329G>A	c.(328-330)cGc>cAc	p.R110H	WFDC8_ENST00000289953.2_Missense_Mutation_p.R110H	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	110	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				AAAATGCCAGCGCTGTGCCTC	0.463																																																	0													114	102	106					20																	44184456		2203	4300	6503	SO:0001583	missense	0			AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"WAP four-disulfide core domain containing"	16163	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 170"	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.329G>A	20.37:g.44184456C>T	ENSP00000361735:p.Arg110His		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	pfam_WAP-type_4-diS_core,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,prints_WAP-type_4-diS_core	p.R110H	ENST00000357199.4	37	c.329	CCDS13361.1	20	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570636	0.28003	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.62639	0.01;0.01	4.26	-3.71	0.04424	Proteinase inhibitor I2, Kunitz metazoa (5);	0.463132	0.20651	N	0.088214	T	0.49133	0.1539	L	0.55990	1.75	0.09310	N	1	B	0.29886	0.26	B	0.26517	0.07	T	0.39860	-0.9593	10	0.46703	T	0.11	.	10.1493	0.42782	0.0:0.3844:0.0:0.6156	.	110	Q8IUA0	WFDC8_HUMAN	H	110	ENSP00000361735:R110H;ENSP00000289953:R110H	ENSP00000289953:R110H	R	-	2	0	WFDC8	43617870	0.048000	0.20356	0.006000	0.13384	0.066000	0.16364	-0.615000	0.05597	-0.730000	0.04869	-0.137000	0.14449	CGC	WFDC8	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000158901		0.463	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC8	HGNC	protein_coding	OTTHUMT00000106958.1	-	0	80	0	C			44184456	-1	tier1	-	no_errors	ENST00000289953	ensembl	human	known	74_37	missense	37.50	35	21	SNP	0.010	T	T	44184456	C	T	44184456	3	4	161	1	0	0	0	0	1	0	0	0	17405	768	27	1	408	1	WFDC8	20	44184456	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	10733194	44184456	18841064	145	41063											
LAMA5	3911	genome.wustl.edu	37	chr20	60912736	60912736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcactgcccactccGggggtcacaggctgcgtgca	6	6	14	15	2	1	0	1	0	0	0	2	0	2	0	2	3	5	5	2	3	0	0			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr20:60912736G>A	ENST00000252999.3	-	16	2140	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	692	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			TGCCCACTCCGGGGGTCACAG	0.662																																																	0													28	29	29					20																	60912736		2202	4294	6496	SO:0001583	missense	0			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.2074C>T	20.37:g.60912736G>A	ENSP00000252999:p.Arg692Trp		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.R692W	ENST00000252999.3	37	c.2074	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025086	0.35701	.	.	ENSG00000130702	ENST00000252999	T	0.62105	0.05	4.89	2.79	0.32731	EGF-like, laminin (3);	1.182250	0.06200	N	0.683052	T	0.61048	0.2316	L	0.32530	0.975	0.25765	N	0.984908	D	0.67145	0.996	P	0.51229	0.663	T	0.51474	-0.8701	10	0.52906	T	0.07	.	8.876	0.35345	0.0:0.2548:0.6239:0.1213	.	692	O15230	LAMA5_HUMAN	W	692	ENSP00000252999:R692W	ENSP00000252999:R692W	R	-	1	2	LAMA5	60346131	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.864000	0.27926	0.980000	0.38523	0.650000	0.86243	CGG	LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	ENSG00000130702		0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	61	0	G	NM_005560		60912736	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	35.21	46	25	SNP	0.003	A	A	60912736	G	A	60912736	3	1	161	1	0	0	0	0	1	0	0	0	8637	1115	39	1	9273	1	LAMA5	20	60912736	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	16728280	60912736	2112784	146	41064											
GMEB2	26205	genome.wustl.edu	37	chr20	62221818	62221818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcccaggacggtggacGgcagggtggacaccacttta	8	7	14	12	2	0	0	0	0	0	0	0	3	0	3	3	6	1	1	3	6	1	3			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr20:62221818G>A	ENST00000266068.1	-	9	1695	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L	GMEB2_ENST00000370077.1_Missense_Mutation_p.P406L|GMEB2_ENST00000370069.1_Missense_Mutation_p.P355L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	406					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GACGGTGGACGGCAGGGTGGA	0.711																																																	0													13	13	13					20																	62221818		2162	4237	6399	SO:0001583	missense	0			AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.1217C>T	20.37:g.62221818G>A	ENSP00000266068:p.Pro406Leu		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom	p.P406L	ENST00000266068.1	37	c.1217	CCDS13528.1	20	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517162	0.64634	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.73789	-0.78;-0.19;-0.19	4.49	4.49	0.54785	.	0.000000	0.49305	D	0.000151	T	0.80944	0.4721	L	0.59436	1.845	0.58432	D	0.999998	D	0.65815	0.995	P	0.55923	0.787	D	0.83883	0.0280	10	0.72032	D	0.01	-9.5945	17.1583	0.86797	0.0:0.0:1.0:0.0	.	406	Q9UKD1	GMEB2_HUMAN	L	355;406;406	ENSP00000359086:P355L;ENSP00000359094:P406L;ENSP00000266068:P406L	ENSP00000266068:P406L	P	-	2	0	GMEB2	61692262	1.000000	0.71417	0.779000	0.31741	0.337000	0.28794	3.916000	0.56416	2.207000	0.71202	0.561000	0.74099	CCG	GMEB2	-	NULL	ENSG00000101216		0.711	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMEB2	HGNC	protein_coding	OTTHUMT00000080166.1	-	0	20	0	G	NM_012384		62221818	-1	tier1	-	no_errors	ENST00000266068	ensembl	human	known	74_37	missense	45.45	12	10	SNP	0.989	A	A	62221818	G	A	62221818	3	1	161	1	0	0	0	0	1	0	0	0	6514	1116	39	1	379	1	GMEB2	20	62221818	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	1309082	62221818	803702	147	41065											
SLC25A18	83733	genome.wustl.edu	37	chr22	18063897	18063897	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagactcgcctgcagaacCagcatgggaaagccatgtac	13	5	10	13	1	0	2	0	0	0	2	1	3	0	3	4	1	5	3	4	1	4	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr22:18063897C>T	ENST00000327451.6	+	4	653	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	SLC25A18_ENST00000497401.1_3'UTR|AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Nonsense_Mutation_p.Q39*	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	39						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		CCTGCAGAACCAGCATGGGAA	0.617																																					Colon(118;1560 1625 18964 29606 50093)												0													55	43	47					22																	18063897		2197	4297	6494	SO:0001587	stop_gained	0			AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"Solute carriers"	10988	protein-coding gene	gene with protein product		609303	"solute carrier family 25 (mitochondrial carrier), member 18"			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.115C>T	22.37:g.18063897C>T	ENSP00000329033:p.Gln39*			Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Q39*	ENST00000327451.6	37	c.115	CCDS13744.1	22	.	.	.	.	.	.	.	.	.	.	C	42	9.171867	0.99089	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.0945	17.6423	0.88140	0.0:1.0:0.0:0.0	.	.	.	.	X	39	.	ENSP00000329033:Q39X	Q	+	1	0	SLC25A18	16443897	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.144000	0.77357	2.515000	0.84797	0.655000	0.94253	CAG	SLC25A18	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000182902		0.617	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A18	HGNC	protein_coding	OTTHUMT00000316214.3	-	0	66	0	C	NM_031481		18063897	1	tier1	-	no_errors	ENST00000327451	ensembl	human	known	74_37	nonsense	50.00	16	16	SNP	1.000	T	T	18063897	C	T	18063897	4	4	161	1	0	0	0	0	0	1	0	0	14525	595	21	3	121	3	SLC25A18	22	18063897	Nonsense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09		18063897	33240669	148	41066											
TBX1	54584	genome.wustl.edu	37	chr22	19770479	19770479	+	IGR	SNP	C	C	T	0	0	0	1	1	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	ctccaacctggcttgctggaCgtgctcttgaagcccccaag	7	9	10	15	1	1	1	0	1	1	0	2	2	2	2	4	2	4	3	4	2	3	2	rs41298848		TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr22:19770479C>T	ENST00000329517.6	-	0	6706				TBX1_ENST00000359500.3_Silent_p.D351D	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)		p.D351D(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					gcttgctggacgtgctcttga	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		18599	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	large_intestine(1)						C		2,4404	4.2+/-10.8	0,2,2201	143	133	136		1053	-2.9	0	22	dbSNP_127	136	0,8600		0,0,4300	no	coding-synonymous	TBX1	NM_005992.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		351/373	19770479	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	0			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"WD repeat domain containing"	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279		22.37:g.19770479C>T			Q9H2S2|Q9H4M4	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.D351	ENST00000329517.6	37	c.1053	CCDS13768.1	22																																																																																			TBX1	-	NULL	ENSG00000184058		0.582	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX1	HGNC	protein_coding	OTTHUMT00000075202.1		0	84	0	C			19770479	1			no_errors	ENST00000359500	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.000	T	T	19770479	C	T	19770479	1	4	161	0	1	0	0	0	0	0	0	0	15697	535	19	1		1	TBX1	22	19770479	IGR	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	1706582	19770479	31534087	149	41067											
NCF4	4689	genome.wustl.edu	37	chr22	37271717	37271717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgtccggggagccacggGcatcttccctctctccttcg	4	10	10	17	3	2	0	0	0	2	0	7	1	5	1	4	3	1	1	4	3	0	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr22:37271717G>A	ENST00000248899.6	+	8	834	c.650G>A	c.(649-651)gGc>gAc	p.G217D	NCF4_ENST00000397147.4_Missense_Mutation_p.G217D	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	217	SH3. {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)|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)	GGAGCCACGGGCATCTTCCCT	0.602																																																	0													66	59	62					22																	37271717		2203	4300	6503	SO:0001583	missense	0			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.650G>A	22.37:g.37271717G>A	ENSP00000248899:p.Gly217Asp		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox	p.G217D	ENST00000248899.6	37	c.650	CCDS13934.1	22	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383783	0.82792	.	.	ENSG00000100365	ENST00000447071;ENST00000248899;ENST00000397147	D;D;D	0.88201	-2.35;-2.35;-2.35	4.45	4.45	0.53987	Src homology-3 domain (4);	0.105050	0.64402	D	0.000004	D	0.96577	0.8883	H	0.97940	4.11	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.77004	0.989;0.976	D	0.98204	1.0469	10	0.87932	D	0	-32.0388	15.6722	0.77286	0.0:0.0:1.0:0.0	.	217;217	A8K4F9;Q15080	.;NCF4_HUMAN	D	114;217;217	ENSP00000414958:G114D;ENSP00000248899:G217D;ENSP00000380334:G217D	ENSP00000248899:G217D	G	+	2	0	NCF4	35601663	1.000000	0.71417	0.977000	0.42913	0.908000	0.53690	6.864000	0.75494	2.204000	0.70986	0.650000	0.86243	GGC	NCF4	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox	ENSG00000100365		0.602	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF4	HGNC	protein_coding	OTTHUMT00000318863.1	-	0	37	0	G	NM_000631		37271717	1	tier1	-	no_errors	ENST00000397147	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	A	A	37271717	G	A	37271717	3	1	161	1	0	0	0	0	1	0	0	0	10257	1203	42	3	680	3	NCF4	22	37271717	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	17501238	37271717	14032849	150	41068											
PLA2G6	8398	genome.wustl.edu	37	chr22	38519192	38519192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccacacccgaggccttctCgatggcgatgaggagctgga	8	6	15	12	3	1	1	0	1	1	0	2	6	1	3	3	5	1	1	3	5	0	1			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr22:38519192C>T	ENST00000332509.3	-	11	1684	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	PLA2G6_ENST00000335539.3_Missense_Mutation_p.E447K|PLA2G6_ENST00000490473.1_5'Flank|PLA2G6_ENST00000402064.1_Missense_Mutation_p.E447K	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	501	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GAGGCCTTCTCGATGGCGATG	0.627																																																	0			GRCh37	CM063029	PLA2G6	M							68	51	57					22																	38519192		2174	4258	6432	SO:0001583	missense	0			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.1501G>A	22.37:g.38519192C>T	ENSP00000333142:p.Glu501Lys		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E501K	ENST00000332509.3	37	c.1501	CCDS13967.1	22	.	.	.	.	.	.	.	.	.	.	C	37	5.984351	0.97173	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.79454	-1.27;-1.27;-1.27	5.61	5.61	0.85477	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.91009	0.7172	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.939	D	0.92473	0.5987	10	0.87932	D	0	-43.9072	19.6496	0.95795	0.0:1.0:0.0:0.0	.	447;501	O60733-2;O60733	.;PA2G6_HUMAN	K	501;362;447;447	ENSP00000333142:E501K;ENSP00000335149:E447K;ENSP00000386100:E447K	ENSP00000333142:E501K	E	-	1	0	PLA2G6	36849138	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.425000	0.80255	2.642000	0.89623	0.514000	0.50259	GAG	PLA2G6	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000184381		0.627	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	-	0	54	0	C	NM_001004426		38519192	-1	tier1	-	no_errors	ENST00000332509	ensembl	human	known	74_37	missense	42.31	15	11	SNP	1.000	T	T	38519192	C	T	38519192	3	4	161	1	0	0	0	0	1	0	0	0	12047	893	31	1	947	1	PLA2G6	22	38519192	Missense_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	1247475	38519192	12785374	151	41069											
SCUBE1	80274	genome.wustl.edu	37	chr22	43627758	43627758	+	Splice_Site	DEL	C	C	-																															cggggcatggcaggggctcaCcctggcaggtgcgctcgtcg																										TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chr22:43627758delC	ENST00000360835.4	-	8	1094		c.e8+1		Z82214.2_ENST00000419643.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGGGGCTCACCCTGGCAGGT	0.701											OREG0026615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													17	15	16					22																	43627758		2189	4286	6475	SO:0001630	splice_region_variant	0				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.967+1G>-	22.37:g.43627758delC		917	Q5R336	Splice_Site	DEL	-	e8+1	ENST00000360835.4	37	c.967+1	CCDS14048.1	22																																																																																			SCUBE1	-	-	ENSG00000159307		0.701	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3		0	11	0	C	NM_173050	Intron	43627758	-1			no_errors	ENST00000360835	ensembl	human	known	74_37	splice_site_del	33.33	4	2	DEL	1.000	0	-	43627758	C	-	43627758	8	5	161	1	0	1	0	1	0	0	1	0	13989	521	18	0	2058	0	SCUBE1	22	43627758	Splice_Site	DEL	C	TCGA-VR-A8EO-01A-11D-A36J-09	5108566	43627758	7676808	152	41070											
WWC3	55841	genome.wustl.edu	37	chrX	10035344	10035344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaacttacccagattgagGatccaagagaacagtggagg	15	6	12	8	0	0	4	0	1	0	3	1	7	1	6	2	3	3	0	2	3	4	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chrX:10035344G>T	ENST00000380861.4	+	3	425	c.34G>T	c.(34-36)Gat>Tat	p.D12Y	WWC3_ENST00000454666.1_Missense_Mutation_p.D12Y	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	12					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						CCAGATTGAGGATCCAAGAGA	0.393																																																	0													46	39	41					X																	10035344		2203	4300	6503	SO:0001583	missense	0			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.34G>T	X.37:g.10035344G>T	ENSP00000370242:p.Asp12Tyr		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2_dom	p.D12Y	ENST00000380861.4	37	c.34	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442155	0.63067	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.15256	2.44;2.44	5.31	5.31	0.75309	.	0.055446	0.64402	D	0.000001	T	0.44685	0.1305	M	0.76170	2.325	0.51767	D	0.999931	D	0.89917	1.0	D	0.78314	0.991	T	0.46219	-0.9207	10	0.87932	D	0	-27.9856	18.105	0.89517	0.0:0.0:1.0:0.0	.	12	Q9ULE0	WWC3_HUMAN	Y	12	ENSP00000370242:D12Y;ENSP00000399584:D12Y	ENSP00000370242:D12Y	D	+	1	0	WWC3	9995344	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	7.029000	0.76477	2.211000	0.71520	0.506000	0.49869	GAT	WWC3	-	NULL	ENSG00000047644		0.393	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	-	0	57	0	G	NM_015691		10035344	1	tier1	-	no_errors	ENST00000380861	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	10035344	G	T	10035344	3	4	161	1	0	0	0	0	1	0	0	0	17462	1174	41	3	40	3	WWC3	23	10035344	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09		10035344	145235216	153	41071											
FAM120C	54954	genome.wustl.edu	37	chrX	54186038	54186038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccaaatggtggtcttcaagGctctgaaagacctagaaggg	12	9	12	8	0	3	3	1	1	2	2	4	3	4	3	2	4	0	1	2	4	5	2			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chrX:54186038G>T	ENST00000375180.2	-	2	767	c.711C>A	c.(709-711)agC>agA	p.S237R	FAM120C_ENST00000328235.4_Missense_Mutation_p.S237R	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	237							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGTCTTCAAGGCTCTGAAAGA	0.438																																																	0													48	41	43					X																	54186038		2203	4300	6503	SO:0001583	missense	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.711C>A	X.37:g.54186038G>T	ENSP00000364324:p.Ser237Arg		B2RMT7	Missense_Mutation	SNP	NULL	p.S237R	ENST00000375180.2	37	c.711	CCDS14356.1	X	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298002	0.60086	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.54279	0.58;0.58	5.0	3.19	0.36642	.	0.139153	0.64402	D	0.000003	T	0.63094	0.2482	L	0.49126	1.545	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.74023	0.979;0.982	T	0.63829	-0.6548	10	0.72032	D	0.01	-10.8182	9.9752	0.41779	0.1803:0.0:0.8197:0.0	.	237;237	F8W881;Q9NX05	.;F120C_HUMAN	R	237	ENSP00000364324:S237R;ENSP00000329896:S237R	ENSP00000329896:S237R	S	-	3	2	FAM120C	54202763	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.577000	0.36515	0.877000	0.35895	0.506000	0.49869	AGC	FAM120C	-	NULL	ENSG00000184083		0.438	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	-	0	47	0	G	NM_017848		54186038	-1	tier1	-	no_errors	ENST00000375180	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	54186038	G	T	54186038	3	4	161	1	0	0	0	0	1	0	0	0	5437	1194	42	3	2639	3	FAM120C	23	54186038	Missense_Mutation	SNP	G	TCGA-VR-A8EO-01A-11D-A36J-09	44150694	54186038	101084522	154	41072											
MUM1L1	139221	genome.wustl.edu	37	chrX	105450010	105450010	+	Frame_Shift_Del	DEL	T	T	-																															aactctagctggtgcgagacTttcccttcactttcggaaga																										TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chrX:105450010delT	ENST00000357175.2	+	4	1234	c.585delT	c.(583-585)actfs	p.T195fs	MUM1L1_ENST00000372552.1_Frame_Shift_Del_p.T195fs|MUM1L1_ENST00000337685.2_Frame_Shift_Del_p.T195fs	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	195						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGCGAGACTTTCCCTTCAC	0.388																																																	0													72	61	64					X																	105450010		1883	4097	5980	SO:0001589	frameshift_variant	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.585delT	X.37:g.105450010delT	ENSP00000349699:p.Thr195fs		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Frame_Shift_Del	DEL	superfamily_PyrdxlP-dep_Trfase	p.F196fs	ENST00000357175.2	37	c.585	CCDS55469.1	X																																																																																			MUM1L1	-	NULL	ENSG00000157502		0.388	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1		0	34	0	T	NM_152423		105450010	1	tier1		no_errors	ENST00000337685	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	0.000	-	-	105450010	T	-	105450010	7	5	161	1	0	1	0	1	0	0	0	0	10024	1596	56	0	587	0	MUM1L1	23	105450010	Frame_Shift_Del	DEL	T	TCGA-VR-A8EO-01A-11D-A36J-09	51263972	105450010	49820550	155	41073											
SPANXC	64663	genome.wustl.edu	37	chrX	140335650	140335650	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagagatgtagcttcttgCtactttgcaggtatttcaac	9	16	9	7	0	2	2	1	1	1	1	2	3	2	2	0	1	5	5	0	1	4	8			TCGA-VR-A8EO-01A-11D-A36J-09	TCGA-VR-A8EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	99b4a355-38c5-453d-8af7-596281e04b52	eb9962d2-a032-4cc8-b4b9-8f581df3df66	g.chrX:140335650C>A	ENST00000358993.2	-	2	332	c.294G>T	c.(292-294)taG>taT	p.*98Y		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TAGCTTCTTGCTACTTTGCAG	0.463																																																	0													38	41	40					X																	140335650		1988	3986	5974	SO:0001578	stop_lost	0			AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 3"	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.294G>T	X.37:g.140335650C>A			Q32WL9|Q5JX88	Nonstop_Mutation	SNP	pfam_SPANX_prot	p.*98Y	ENST00000358993.2	37	c.294	CCDS14673.1	X	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.813281	0.00600	.	.	ENSG00000198573	ENST00000358993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Y	98	.	.	X	-	3	2	SPANXC	140163316	0.059000	0.20769	0.003000	0.11579	0.003000	0.03518	0.064000	0.14437	-1.174000	0.02754	-1.238000	0.01547	TAG	SPANXC	-	NULL	ENSG00000198573		0.463	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXC	HGNC	protein_coding	OTTHUMT00000058590.1	-	0	57	0	C	NM_022661		140335650	-1	tier1	-	no_errors	ENST00000358993	ensembl	human	known	74_37	nonstop	57.58	14	19	SNP	0.003	A	A	140335650	C	A	140335650	4	1	161	1	0	0	0	0	0	0	0	0	15034	808	28	3	3	3	SPANXC	23	140335650	Nonstop_Mutation	SNP	C	TCGA-VR-A8EO-01A-11D-A36J-09	34885640	140335650	14934910	156	41074											
ALDH4A1	8659	genome.wustl.edu	37	chr1	19215874	19215874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgacacttggtactgcacGtccgacgtccacacctcctc	8	8	7	18	4	0	0	0	0	0	0	4	2	3	0	5	1	2	2	5	1	1	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:19215874G>T	ENST00000375341.3	-	3	488	c.231C>A	c.(229-231)gaC>gaA	p.D77E	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.D17E|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.D77E|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.D77E	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	77					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)		GGTACTGCACGTCCGACGTCC	0.577																																																	0													97	70	79					1																	19215874		2158	4180	6338	SO:0001583	missense	0			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.231C>A	1.37:g.19215874G>T	ENSP00000364490:p.Asp77Glu		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.D77E	ENST00000375341.3	37	c.231	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	G	6.990	0.552676	0.13374	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000375334;ENST00000432718	T;T;T;T;T	0.29655	1.65;1.65;1.65;1.65;1.56	5.34	-5.64	0.02466	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.170606	0.49305	D	0.000150	T	0.16342	0.0393	L	0.32530	0.975	0.26916	N	0.966775	B	0.06786	0.001	B	0.13407	0.009	T	0.23868	-1.0176	10	0.18276	T	0.48	-24.1887	10.3015	0.43654	0.613:0.0:0.2946:0.0924	.	77	P30038	AL4A1_HUMAN	E	77;77;77;17;77;17;77	ENSP00000290597:D77E;ENSP00000364490:D77E;ENSP00000446071:D77E;ENSP00000442988:D17E;ENSP00000393209:D77E	ENSP00000290597:D77E	D	-	3	2	ALDH4A1	19088461	0.000000	0.05858	0.000000	0.03702	0.463000	0.32649	-3.368000	0.00495	-1.082000	0.03101	-0.251000	0.11542	GAC	ALDH4A1	-	superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	ENSG00000159423		0.577	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	-	0	28	0	G			19215874	-1	tier1	-	no_errors	ENST00000290597	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.493	T	T	19215874	G	T	19215874	3	4	162	1	0	0	0	0	1	0	0	0	501	1136	40	2	1512	2	ALDH4A1	1	19215874	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09		19215874	230034747	1	41075											
PLA2G5	5322	genome.wustl.edu	37	chr1	20411357	20411357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccactggcttggttcctgGcttgtagtaagtgctggccc	4	13	12	12	0	0	0	0	0	0	0	2	0	2	0	3	4	1	6	3	4	2	5			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:20411357G>A	ENST00000375108.3	+	2	302	c.34G>A	c.(34-36)Gct>Act	p.A12T	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	12					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|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 metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TTGGTTCCTGGCTTGTAGTAA	0.522																																																	0													151	142	145					1																	20411357		2203	4300	6503	SO:0001583	missense	0			U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.34G>A	1.37:g.20411357G>A	ENSP00000364249:p.Ala12Thr		Q8N435	Missense_Mutation	SNP	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.A12T	ENST00000375108.3	37	c.34	CCDS202.1	1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847662	0.51164	.	.	ENSG00000127472	ENST00000375108	T	0.27557	1.66	4.39	3.47	0.39725	.	0.120476	0.37577	N	0.002031	T	0.29783	0.0744	M	0.65975	2.015	0.27137	N	0.961743	B	0.23058	0.079	B	0.15870	0.014	T	0.28933	-1.0028	10	0.66056	D	0.02	-4.0175	8.7071	0.34360	0.1098:0.0:0.8902:0.0	.	12	P39877	PA2G5_HUMAN	T	12	ENSP00000364249:A12T	ENSP00000364249:A12T	A	+	1	0	PLA2G5	20283944	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.355000	0.44107	1.152000	0.42452	0.655000	0.94253	GCT	PLA2G5	-	NULL	ENSG00000127472		0.522	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G5	HGNC	protein_coding	OTTHUMT00000007668.1	-	0	74	0	G	NM_000929		20411357	1	tier1	-	no_errors	ENST00000375108	ensembl	human	known	74_37	missense	27.59	42	16	SNP	1.000	A	A	20411357	G	A	20411357	3	1	162	1	0	0	0	0	1	0	0	0	12046	1203	42	3	36	3	PLA2G5	1	20411357	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	1195483	20411357	228839264	2	41076											
FAM46B	115572	genome.wustl.edu	37	chr1	27333125	27333125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagctccacgttcttgccGctcttgttggacagtgagat	6	14	11	10	2	2	2	0	2	2	1	3	4	3	3	2	1	2	4	2	1	0	5	rs143879440		TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:27333125G>A	ENST00000289166.5	-	2	753	c.588C>T	c.(586-588)agC>agT	p.S196S		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	196										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)		CGTTCTTGCCGCTCTTGTTGG	0.532																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	136	130	132		588	-2.5	0.9	1	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous	FAM46B	NM_052943.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		196/426	27333125	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.588C>T	1.37:g.27333125G>A				Silent	SNP	pfam_DUF1693	p.S196	ENST00000289166.5	37	c.588	CCDS294.2	1																																																																																			FAM46B	-	pfam_DUF1693	ENSG00000158246		0.532	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	HGNC	protein_coding	OTTHUMT00000012347.2	-	0	22	0	G	NM_052943		27333125	-1	tier1	rs143879440	no_errors	ENST00000289166	ensembl	human	known	74_37	silent	41.18	10	7	SNP	0.741	A	A	27333125	G	A	27333125	2	1	162	1	0	0	0	0	0	0	0	1	5588	1078	38	1		1	FAM46B	1	27333125	Silent	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	6921768	27333125	221917496	3	41077											
HMGB4	127540	genome.wustl.edu	37	chr1	34329981	34329981	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaaatatgaagccctGgccaaactcgacaaagcccg	15	4	9	13	2	0	1	0	1	0	0	1	2	0	1	4	2	3	0	4	2	6	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:34329981G>C	ENST00000522796.1	+	4	2094	c.189G>C	c.(187-189)ctG>ctC	p.L63L	HMGB4_ENST00000519684.1_Silent_p.L63L|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR			Q8WW32	HMGB4_HUMAN	high mobility group box 4	63						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATGAAGCCCTGGCCAAACTCG	0.463																																																	0													121	137	132					1																	34329981		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"High-mobility group / Canonical"	24954	protein-coding gene	gene with protein product			"high-mobility group box 4"				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.189G>C	1.37:g.34329981G>C			B2R4X7|Q0QWA4	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.L63	ENST00000522796.1	37	c.189	CCDS30668.1	1																																																																																			HMGB4	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000176256		0.463	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HMGB4	HGNC	protein_coding	OTTHUMT00000375773.1	-	0	46	0	G	NM_145205		34329981	1	tier1	-	no_errors	ENST00000519684	ensembl	human	known	74_37	silent	36.84	24	14	SNP	0.985	C	C	34329981	G	C	34329981	2	2	162	1	0	0	0	0	0	0	0	1	7255	1335	47	5		5	HMGB4	1	34329981	Silent	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	6996856	34329981	214920640	4	41078											
PPAP2B	8613	genome.wustl.edu	37	chr1	56962230	56962230	+	Missense_Mutation	SNP	A	A	G	1	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	aggtgggtggcacctacatcAtgttgtggtgattgttcctg	6	14	14	7	0	1	1	1	1	0	0	2	1	2	1	2	4	1	3	2	4	1	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:56962230A>G	ENST00000371250.3	-	6	1480	c.929T>C	c.(928-930)aTg>aCg	p.M310T	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	310					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						CACCTACATCATGTTGTGGTG	0.483																																																	0													166	151	156					1																	56962230		2203	4300	6503	SO:0001583	missense	0			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.929T>C	1.37:g.56962230A>G	ENSP00000360296:p.Met310Thr		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.M310T	ENST00000371250.3	37	c.929	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178574	0.38511	.	.	ENSG00000162407	ENST00000371250	T	0.30714	1.52	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	L	0.27053	0.805	0.53005	D	0.999964	B	0.25105	0.118	B	0.21151	0.033	T	0.05419	-1.0886	10	0.18710	T	0.47	.	13.6099	0.62071	1.0:0.0:0.0:0.0	.	310	O14495	LPP3_HUMAN	T	310	ENSP00000360296:M310T	ENSP00000360296:M310T	M	-	2	0	PPAP2B	56734818	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.095000	0.89535	2.080000	0.62538	0.533000	0.62120	ATG	PPAP2B	-	NULL	ENSG00000162407		0.483	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2	-	0	44	0	A	NM_003713		56962230	-1	tier1	-	no_errors	ENST00000371250	ensembl	human	known	74_37	missense	31.58	39	18	SNP	1.000	G	G	56962230	A	G	56962230	3	3	162	1	0	0	0	0	1	0	0	0	12330	217	8	4	10	4	PPAP2B	1	56962230	Missense_Mutation	SNP	A	TCGA-VR-A8EP-01A-31D-A403-09	22632249	56962230	192288391	5	41079											
CACHD1	57685	genome.wustl.edu	37	chr1	65113504	65113504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggggtgactggtttgaaaGagctggcttttctgagggat	8	13	16	4	0	1	4	0	3	1	1	1	5	1	5	0	5	1	3	0	5	1	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:65113504G>C	ENST00000371073.2	+	9	1177	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.E342Q			Q5VU97	CAHD1_HUMAN	cache domain containing 1	393	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						TGGTTTGAAAGAGCTGGCTTT	0.463																																																	0													68	61	64					1																	65113504		2203	4300	6503	SO:0001583	missense	0			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.1177G>C	1.37:g.65113504G>C	ENSP00000360113:p.Glu393Gln		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.E393Q	ENST00000371073.2	37	c.1177		1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338877	0.81911	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22539	1.95;1.95	5.42	4.5	0.54988	von Willebrand factor, type A (2);	0.090748	0.85682	D	0.000000	T	0.08891	0.0220	L	0.27053	0.805	0.80722	D	1	B	0.26635	0.155	B	0.26614	0.071	T	0.05767	-1.0865	10	0.62326	D	0.03	-27.2006	16.2602	0.82536	0.0:0.1328:0.8672:0.0	.	393	Q5VU97	CAHD1_HUMAN	Q	393;342	ENSP00000360113:E393Q;ENSP00000290039:E342Q	ENSP00000290039:E342Q	E	+	1	0	CACHD1	64886092	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.338000	0.96553	1.270000	0.44297	-0.165000	0.13383	GAG	CACHD1	-	pfscan_VWF_A	ENSG00000158966		0.463	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		-	0	18	0	G	NM_020925		65113504	1	tier1	-	no_errors	ENST00000371073	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	C	C	65113504	G	C	65113504	3	2	162	1	0	0	0	0	1	0	0	0	2544	943	33	5	1058	5	CACHD1	1	65113504	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	8151274	65113504	184137117	6	41080											
COL11A1	1301	genome.wustl.edu	37	chr1	103496701	103496701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggttcctgagcttgagCagccttgggtgctgaagagt	7	11	15	8	0	0	5	0	4	0	1	1	5	1	5	2	2	4	4	2	2	1	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:103496701C>A	ENST00000370096.3	-	5	1063	c.751G>T	c.(751-753)Gct>Tct	p.A251S	COL11A1_ENST00000353414.4_Missense_Mutation_p.A251S|COL11A1_ENST00000358392.2_Missense_Mutation_p.A251S|COL11A1_ENST00000512756.1_Missense_Mutation_p.A251S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	251	Nonhelical 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)		TGAGCTTGAGCAGCCTTGGGT	0.478																																																	0													100	89	93					1																	103496701		2203	4300	6503	SO:0001583	missense	0			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.751G>T	1.37:g.103496701C>A	ENSP00000359114:p.Ala251Ser		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.A251S	ENST00000370096.3	37	c.751	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610252	0.28712	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	D;T;D;D;D;T	0.88124	-2.3;-0.58;-2.31;-2.34;-2.0;3.23	5.59	3.65	0.41850	.	0.367633	0.29106	N	0.013126	T	0.73999	0.3659	M	0.79123	2.44	0.32197	N	0.578331	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.001;0.002;0.003;0.001	T	0.61272	-0.7096	10	0.14656	T	0.56	.	9.6614	0.39958	0.2627:0.4849:0.2524:0.0	.	251;251;251;251	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	S	251;251;251;251;251;178	ENSP00000359114:A251S;ENSP00000351163:A251S;ENSP00000302551:A251S;ENSP00000426533:A251S;ENSP00000408640:A251S;ENSP00000410177:A178S	ENSP00000302551:A251S	A	-	1	0	COL11A1	103269289	0.992000	0.36948	0.965000	0.40720	0.996000	0.88848	1.504000	0.35726	0.663000	0.31027	0.551000	0.68910	GCT	COL11A1	-	NULL	ENSG00000060718		0.478	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	21	0	C	NM_080630		103496701	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.974	A	A	103496701	C	A	103496701	3	1	162	1	0	0	0	0	1	0	0	0	3674	710	25	3	5078	3	COL11A1	1	103496701	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	38383197	103496701	145753920	7	41081											
TCHH	7062	genome.wustl.edu	37	chr1	152084666	152084666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcgcgcctctcctcctGctcgcgcctcagctgctgct	1	11	9	20	4	2	0	1	0	1	0	6	0	3	0	4	0	5	5	4	0	0	0			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:152084666G>C	ENST00000368804.1	-	2	1026	c.1027C>G	c.(1027-1029)Cag>Gag	p.Q343E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	343	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)			ctctcctcctgctcgcgcctc	0.716																																																	0													11	15	14					1																	152084666		1927	3989	5916	SO:0001583	missense	0			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.1027C>G	1.37:g.152084666G>C	ENSP00000357794:p.Gln343Glu		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Q343E	ENST00000368804.1	37	c.1027	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	N	6.893	0.534184	0.13188	.	.	ENSG00000159450	ENST00000368804	T	0.05649	3.41	4.0	-5.61	0.02489	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49113	-0.8973	9	0.02654	T	1	.	13.7826	0.63091	0.0:0.6395:0.2464:0.1142	.	343	Q07283	TRHY_HUMAN	E	343	ENSP00000357794:Q343E	ENSP00000357794:Q343E	Q	-	1	0	TCHH	150351290	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.355000	0.07671	-0.723000	0.04915	-2.716000	0.00133	CAG	TCHH	-	NULL	ENSG00000159450		0.716	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	46	0	G	NM_007113		152084666	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.000	C	C	152084666	G	C	152084666	3	2	162	1	0	0	0	0	1	0	0	0	15747	1328	46	5	4808	5	TCHH	1	152084666	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	48587965	152084666	97165955	8	41082											
KCNN3	3782	genome.wustl.edu	37	chr1	154794605	154794605	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcgatgatcaagcccaaaAggatgatggtggacagactg	14	6	14	7	1	1	3	1	2	0	1	1	6	1	5	1	4	1	0	1	4	3	0			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:154794605A>G	ENST00000271915.4	-	2	1304	c.989T>C	c.(988-990)cTt>cCt	p.L330P	KCNN3_ENST00000361147.4_Missense_Mutation_p.L25P|KCNN3_ENST00000358505.2_Missense_Mutation_p.L17P	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	335					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)	CAAGCCCAAAAGGATGATGGT	0.547																																																	0													154	123	134					1																	154794605		2203	4300	6503	SO:0001583	missense	0			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.989T>C	1.37:g.154794605A>G	ENSP00000271915:p.Leu330Pro		B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.L330P	ENST00000271915.4	37	c.989	CCDS30880.1	1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121610	0.77436	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.99637	-6.29;-5.12;-6.15	4.89	4.89	0.63831	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.47455	D	0.000221	D	0.99661	0.9874	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.97617	1.0133	10	0.87932	D	0	-11.936	13.6163	0.62110	1.0:0.0:0.0:0.0	.	336;335;25	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	P	25;330;17	ENSP00000354764:L25P;ENSP00000271915:L330P;ENSP00000351295:L17P	ENSP00000271915:L330P	L	-	2	0	KCNN3	153061229	1.000000	0.71417	0.971000	0.41717	0.923000	0.55619	8.139000	0.89615	2.069000	0.61940	0.454000	0.30748	CTT	KCNN3	-	pfam_K_chnl_Ca-activ_SK	ENSG00000143603		0.547	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	-	0	65	0	A	NM_002249		154794605	-1	tier1	-	no_errors	ENST00000271915	ensembl	human	novel	74_37	missense	7.69	48	4	SNP	0.999	G	G	154794605	A	G	154794605	3	3	162	1	0	0	0	0	1	0	0	0	8107	72	3	4	1234	4	KCNN3	1	154794605	Missense_Mutation	SNP	A	TCGA-VR-A8EP-01A-31D-A403-09	2709939	154794605	94456016	9	41083											
IFI16	3428	genome.wustl.edu	37	chr1	159024625	159024625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaaggtcatcaagaccagGaaaaacaagaaagacatact	20	6	7	8	0	3	3	3	0	0	3	3	4	3	4	1	2	2	0	1	2	7	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:159024625G>T	ENST00000295809.7	+	12	2547	c.2292G>T	c.(2290-2292)agG>agT	p.R764S	IFI16_ENST00000359709.3_Missense_Mutation_p.R708S|IFI16_ENST00000448393.2_Missense_Mutation_p.R652S|IFI16_ENST00000368131.4_Missense_Mutation_p.R708S|IFI16_ENST00000368132.3_Missense_Mutation_p.R708S|IFI16_ENST00000430894.2_Missense_Mutation_p.R712S|IFI16_ENST00000340979.6_Missense_Mutation_p.R652S			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	764	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)					TCAAGACCAGGAAAAACAAGA	0.393																																																	0													95	90	92					1																	159024625		2201	4300	6501	SO:0001583	missense	0			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.2292G>T	1.37:g.159024625G>T	ENSP00000295809:p.Arg764Ser		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.R764S	ENST00000295809.7	37	c.2292		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.664831|2.664831	0.47572|0.47572	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.04809	.|3.58;3.61;3.6;3.6;3.55	3.88|3.88	2.96|2.96	0.34315|0.34315	.|.	.|.	.|.	.|.	.|.	T|T	0.02848|0.02848	0.0085|0.0085	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.63880	.|0.977;0.964;0.993	.|P;P;P	.|0.62491	.|0.713;0.66;0.903	T|T	0.48375|0.48375	-0.9041|-0.9041	5|9	.|0.28530	.|T	.|0.3	.|.	7.7684|7.7684	0.28993|0.28993	0.1172:0.0:0.8828:0.0|0.1172:0.0:0.8828:0.0	.|.	.|712;652;708	.|E7EPR3;Q16666-3;Q16666-2	.|.;.;.	V|S	473|393;764;652;708;708;712	.|ENSP00000295809:R764S;ENSP00000342741:R652S;ENSP00000357113:R708S;ENSP00000357114:R708S;ENSP00000394935:R712S	.|ENSP00000295809:R764S	G|R	+|+	2|3	0|2	IFI16|IFI16	157291249|157291249	0.020000|0.020000	0.18652|0.18652	0.002000|0.002000	0.10522|0.10522	0.334000|0.334000	0.28698|0.28698	1.422000|1.422000	0.34826|0.34826	0.948000|0.948000	0.37687|0.37687	0.561000|0.561000	0.74099|0.74099	GGA|AGG	IFI16	-	NULL	ENSG00000163565		0.393	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	-	0	57	0	G	NM_005531		159024625	1	tier1	-	no_errors	ENST00000295809	ensembl	human	known	74_37	missense	11.11	56	7	SNP	0.005	T	T	159024625	G	T	159024625	3	4	162	1	0	0	0	0	1	0	0	0	7538	1165	41	3	2162	3	IFI16	1	159024625	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	4230020	159024625	90225996	10	41084											
IGSF9	57549	genome.wustl.edu	37	chr1	159899523	159899523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacggccactcccagaaagCagactccgcccaccacgccg	10	2	10	19	4	0	2	0	0	0	2	2	3	2	3	6	2	1	1	6	2	1	0			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:159899523C>A	ENST00000368094.1	-	17	2428	c.2231G>T	c.(2230-2232)tGc>tTc	p.C744F	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.C728F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	744					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)			TCCCAGAAAGCAGACTCCGCC	0.716																																																	0													9	13	12					1																	159899523		2185	4263	6448	SO:0001583	missense	0			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.2231G>T	1.37:g.159899523C>A	ENSP00000357073:p.Cys744Phe			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C744F	ENST00000368094.1	37	c.2231	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400254	0.62177	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.67523	-0.27;-0.19	4.83	3.89	0.44902	.	0.000000	0.43260	D	0.000592	T	0.63733	0.2536	M	0.61703	1.905	0.37148	D	0.902023	D	0.61697	0.99	P	0.57548	0.823	T	0.66221	-0.5978	9	.	.	.	-7.9391	10.135	0.42701	0.2001:0.7999:0.0:0.0	.	744	Q9P2J2	TUTLA_HUMAN	F	728;744	ENSP00000355049:C728F;ENSP00000357073:C744F	.	C	-	2	0	IGSF9	158166147	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.387000	0.66243	0.977000	0.38444	0.561000	0.74099	TGC	IGSF9	-	NULL	ENSG00000085552		0.716	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	-	0	26	0	C	NM_020789		159899523	-1	tier1	-	no_errors	ENST00000368094	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	A	A	159899523	C	A	159899523	3	1	162	1	0	0	0	0	1	0	0	0	7632	710	25	3	1328	3	IGSF9	1	159899523	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	874898	159899523	89351098	11	41085											
GPR161	23432	genome.wustl.edu	37	chr1	168066315	168066315	+	Missense_Mutation	SNP	A	A	G	1	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	ggtgccaagcagccacacacAtccatttgaactcgtcaaac	13	7	7	14	1	1	1	1	1	0	0	3	1	2	1	3	1	5	1	3	1	3	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:168066315A>G	ENST00000367838.1	-	5	843	c.530T>C	c.(529-531)aTg>aCg	p.M177T	GPR161_ENST00000546300.1_Missense_Mutation_p.M63T|GPR161_ENST00000271357.5_Missense_Mutation_p.M177T|GPR161_ENST00000367836.1_Missense_Mutation_p.M45T|GPR161_ENST00000537209.1_Missense_Mutation_p.M197T|GPR161_ENST00000367835.1_Missense_Mutation_p.M177T|GPR161_ENST00000361697.2_Missense_Mutation_p.M177T|GPR161_ENST00000539777.1_Missense_Mutation_p.M99T	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	177					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)					AGCCACACACATCCATTTGAA	0.572																																																	0													76	60	66					1																	168066315		2203	4300	6503	SO:0001583	missense	0			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.530T>C	1.37:g.168066315A>G	ENSP00000356812:p.Met177Thr		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.M197T	ENST00000367838.1	37	c.590	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	A	7.365	0.625557	0.14257	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.085098	0.85682	D	0.000000	T	0.08088	0.0202	N	0.05124	-0.11	0.37617	D	0.921179	B;B;B;B;B;B	0.15930	0.012;0.01;0.008;0.015;0.001;0.01	B;B;B;B;B;B	0.15484	0.007;0.006;0.01;0.013;0.001;0.009	T	0.13045	-1.0524	9	0.13853	T	0.58	-44.6134	14.7693	0.69662	1.0:0.0:0.0:0.0	.	197;63;99;197;177;177	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	T	177;177;45;177;63;99;197;177	ENSP00000356812:M177T;ENSP00000271357:M177T;ENSP00000356810:M45T;ENSP00000356809:M177T;ENSP00000444348:M63T;ENSP00000437576:M99T;ENSP00000441039:M197T;ENSP00000355194:M177T	ENSP00000271357:M177T	M	-	2	0	GPR161	166332939	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.869000	0.63028	2.041000	0.60428	0.459000	0.35465	ATG	GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000143147		0.572	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	-	0	23	0	A	NM_007369		168066315	-1	tier1	-	no_errors	ENST00000537209	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	G	G	168066315	A	G	168066315	3	3	162	1	0	0	0	0	1	0	0	0	6691	217	8	4	1075	4	GPR161	1	168066315	Missense_Mutation	SNP	A	TCGA-VR-A8EP-01A-31D-A403-09	8166792	168066315	81184306	12	41086											
CEP350	9857	genome.wustl.edu	37	chr1	180049761	180049761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccatcagcactgttataGttggtcagatgagtcattat	10	14	9	8	0	3	2	3	1	0	1	4	2	4	2	1	1	1	3	1	1	3	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:180049761G>T	ENST00000367607.3	+	30	6507	c.6089G>T	c.(6088-6090)aGt>aTt	p.S2030I		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2030					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						CACTGTTATAGTTGGTCAGAT	0.408											OREG0004796	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0													158	143	148					1																	180049761		2203	4300	6503	SO:0001583	missense	0			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.6089G>T	1.37:g.180049761G>T	ENSP00000356579:p.Ser2030Ile	1958	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.S2030I	ENST00000367607.3	37	c.6089	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.71|17.71	3.456222|3.456222	0.63401|0.63401	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000437245|ENST00000429851	T;T|.	0.54279|.	0.58;0.58|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.64402|.	D|.	0.000020|.	T|.	0.59088|.	0.2168|.	M|M	0.66939|0.66939	2.045|2.045	0.33737|0.33737	D|D	0.618907|0.618907	D;D|.	0.71674|.	0.998;0.997|.	D;P|.	0.78314|.	0.991;0.759|.	T|.	0.69503|.	-0.5128|.	9|.	.|.	.|.	.|.	.|.	8.5882|8.5882	0.33670|0.33670	0.0867:0.1556:0.7578:0.0|0.0867:0.1556:0.7578:0.0	.|.	2030;2030|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	I|Y	2030;37|204	ENSP00000356579:S2030I;ENSP00000409395:S37I|.	.|.	S|X	+|+	2|3	0|2	CEP350|CEP350	178316384|178316384	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.851000|0.851000	0.48451|0.48451	3.063000|3.063000	0.49978|0.49978	2.482000|2.482000	0.83794|0.83794	0.591000|0.591000	0.81541|0.81541	AGT|TAG	CEP350	-	NULL	ENSG00000135837		0.408	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2		0	37	0	G	NM_014810		180049761	1			no_errors	ENST00000367607	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.998	T	T	180049761	G	T	180049761	3	4	162	1	0	0	0	0	1	0	0	0	3261	1029	36	3	6203	3	CEP350	1	180049761	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	11983446	180049761	69200860	13	41087											
LYST	1130	genome.wustl.edu	37	chr1	235860435	235860435	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattccgtgacaaaccacaGattgctctggtgggcagagc	12	8	11	10	1	1	3	0	1	1	2	2	3	2	3	2	2	3	2	2	2	2	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr1:235860435G>C	ENST00000389794.3	-	46	10686	c.10512C>G	c.(10510-10512)atC>atG	p.I3504M	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.I3504M			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3504					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)			ACAAACCACAGATTGCTCTGG	0.468																																																	0													86	88	87					1																	235860435		2203	4300	6503	SO:0001583	missense	0			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.10512C>G	1.37:g.235860435G>C	ENSP00000374444:p.Ile3504Met		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I3504M	ENST00000389794.3	37	c.10512	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673820	0.67928	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.63096	-0.02;-0.02	5.88	4.97	0.65823	.	0.300219	0.41500	D	0.000865	T	0.68732	0.3033	L	0.57536	1.79	0.80722	D	1	D	0.67145	0.996	P	0.60236	0.871	T	0.71140	-0.4679	10	0.72032	D	0.01	.	6.4994	0.22160	0.1372:0.0:0.613:0.2498	.	3504	Q99698	LYST_HUMAN	M	3504	ENSP00000374444:I3504M;ENSP00000374443:I3504M	ENSP00000374443:I3504M	I	-	3	3	LYST	233927058	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.851000	0.39338	1.495000	0.48549	-0.216000	0.12614	ATC	LYST	-	NULL	ENSG00000143669		0.468	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0	63	0	G			235860435	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	missense	36.26	58	33	SNP	1.000	C	C	235860435	G	C	235860435	3	2	162	1	0	0	0	0	1	0	0	0	9164	932	33	5	925	5	LYST	1	235860435	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	55810674	235860435	13390186	14	41088											
MYT1L	23040	genome.wustl.edu	37	chr2	1893241	1893241	+	Silent	SNP	G	G	A	0	0	1	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	ccgttctcatccacctccatGtcagggttctgtcggtagaa	7	12	9	13	2	3	1	2	0	2	1	7	1	5	1	4	2	0	3	4	2	2	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr2:1893241G>A	ENST00000399161.2	-	16	3039	c.2292C>T	c.(2290-2292)gaC>gaT	p.D764D	MYT1L_ENST00000428368.2_Silent_p.D762D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	764					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)		CCACCTCCATGTCAGGGTTCT	0.597																																																	0													55	56	56					2																	1893241		2062	4207	6269	SO:0001819	synonymous_variant	0			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.2292C>T	2.37:g.1893241G>A			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D764	ENST00000399161.2	37	c.2292		2																																																																																			MYT1L	-	pfam_Myelin_TF	ENSG00000186487		0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	-	0	36	0	G	NM_015025		1893241	-1	tier1	-	no_errors	ENST00000399161	ensembl	human	known	74_37	silent	25.00	18	6	SNP	1.000	A	A	1893241	G	A	1893241	2	1	162	1	0	0	0	0	0	0	0	1	10145	1368	48	3		3	MYT1L	2	1893241	Silent	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09		1893241	241306132	15	41089											
OTOF	9381	genome.wustl.edu	37	chr2	26717916	26717916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaagcccaccagctgcCgggcctcgatcaccgtgatg	7	8	11	15	3	2	1	2	1	0	0	3	2	2	1	5	1	3	2	5	1	1	1	rs370475628		TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr2:26717916C>T	ENST00000272371.2	-	9	917	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R264Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	264	C2 1. {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)					CACCAGCTGCCGGGCCTCGAT	0.612																																					GBM(102;732 1451 20652 24062 31372)												0								C	GLN/ARG	0,4406		0,0,2203	75	68	70		791	5.8	1	2		70	2,8598	1.2+/-3.3	0,2,4298	no	missense	OTOF	NM_194248.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	264/1998	26717916	2,13004	2203	4300	6503	SO:0001583	missense	0			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.791G>A	2.37:g.26717916C>T	ENSP00000272371:p.Arg264Gln		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R264Q	ENST00000272371.2	37	c.791	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760083	0.89932	0.0	2.33E-4	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.69806	-0.43;-0.43	5.83	5.83	0.93111	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	0.82958	0.5150	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81504	-0.0903	10	0.38643	T	0.18	-27.893	18.679	0.91540	0.0:1.0:0.0:0.0	.	264	Q9HC10	OTOF_HUMAN	Q	264	ENSP00000272371:R264Q;ENSP00000385255:R264Q	ENSP00000272371:R264Q	R	-	2	0	OTOF	26571420	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.687000	0.84139	2.750000	0.94351	0.655000	0.94253	CGG	OTOF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000115155		0.612	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3		0	39	0	C			26717916	-1			no_errors	ENST00000272371	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	26717916	C	T	26717916	3	4	162	1	0	0	0	0	1	0	0	0	11342	652	23	1	5683	1	OTOF	2	26717916	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	24824675	26717916	216481457	16	41090											
EHBP1	23301	genome.wustl.edu	37	chr2	63176060	63176060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcttcaaactctagacatCggtagtaacttggagaaaga	16	9	9	7	1	2	3	1	0	1	3	3	4	2	3	0	2	3	3	0	2	6	5	rs143884885	byFrequency	TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr2:63176060C>T	ENST00000263991.5	+	14	2666	c.2184C>T	c.(2182-2184)atC>atT	p.I728I	EHBP1_ENST00000405289.1_Silent_p.I693I|EHBP1_ENST00000354487.3_Silent_p.I693I|EHBP1_ENST00000431489.1_Silent_p.I693I|EHBP1_ENST00000405015.3_Silent_p.I693I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	728						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)			CTCTAGACATCGGTAGTAACT	0.348																																																	0								C	,,,	0,4406		0,0,2203	61	67	65		2079,2079,2079,2184	3.8	0.1	2	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EHBP1	NM_001142614.1,NM_001142615.2,NM_001142616.1,NM_015252.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	693/1197,693/1161,693/1161,728/1232	63176060	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.2184C>T	2.37:g.63176060C>T			O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.I728	ENST00000263991.5	37	c.2184	CCDS1872.1	2																																																																																			EHBP1	-	NULL	ENSG00000115504		0.348	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1	-	0	54	0	C	NM_015252		63176060	1	tier1	rs143884885	no_errors	ENST00000263991	ensembl	human	known	74_37	silent	32.76	39	19	SNP	0.069	T	T	63176060	C	T	63176060	2	4	162	1	0	0	0	0	0	0	0	1	4989	874	31	1		1	EHBP1	2	63176060	Silent	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	36458144	63176060	180023313	17	41091											
MYO7B	4648	genome.wustl.edu	37	chr2	128341785	128341785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggagcaagaggagtacCgctcggagaacatctcctgg	11	6	13	11	2	1	2	0	0	1	2	3	5	1	4	3	4	3	3	3	4	3	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr2:128341785C>A	ENST00000409816.2	+	12	1464	c.1432C>A	c.(1432-1434)Cgc>Agc	p.R478S	MYO7B_ENST00000428314.1_Missense_Mutation_p.R478S|MYO7B_ENST00000389524.4_Missense_Mutation_p.R478S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	478	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)		AGAGGAGTACCGCTCGGAGAA	0.572																																																	0													83	90	88					2																	128341785		2202	4299	6501	SO:0001583	missense	0				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.1432C>A	2.37:g.128341785C>A	ENSP00000386461:p.Arg478Ser		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.R478S	ENST00000409816.2	37	c.1432	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	C	8.126	0.782074	0.16189	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.86865	-2.18;-2.18;-2.18	4.7	2.85	0.33270	Myosin head, motor domain (2);	0.568941	0.18439	N	0.141189	T	0.78991	0.4371	L	0.31804	0.96	0.09310	N	0.999997	B	0.32753	0.383	B	0.35607	0.206	T	0.62053	-0.6935	10	0.09084	T	0.74	.	13.1545	0.59509	0.5454:0.4546:0.0:0.0	.	478	Q6PIF6	MYO7B_HUMAN	S	478	ENSP00000374175:R478S;ENSP00000415090:R478S;ENSP00000386461:R478S	ENSP00000374175:R478S	R	+	1	0	MYO7B	128058255	0.122000	0.22280	0.621000	0.29145	0.944000	0.59088	0.531000	0.23052	0.677000	0.31305	0.655000	0.94253	CGC	MYO7B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000169994		0.572	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	-	0	64	0	C	XM_291001		128341785	1	tier1	-	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.204	A	A	128341785	C	A	128341785	3	1	162	1	0	0	0	0	1	0	0	0	10121	652	23	2	1478	2	MYO7B	2	128341785	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	65165725	128341785	114857588	18	41092											
C2orf60	129450	genome.wustl.edu	37	chr2	200820127	200820127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcacctgtgggtagaGgtgctgcatgaactgctccc	6	9	14	12	0	1	2	1	1	0	1	2	2	2	2	3	3	4	4	3	3	2	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr2:200820127G>T	ENST00000354611.4	-	1	332	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	C2orf47_ENST00000392290.1_5'Flank|C2orf69_ENST00000491721.1_3'UTR|TYW5_ENST00000452512.2_5'UTR|C2orf47_ENST00000295079.2_Intron	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	23					wybutosine biosynthetic process (GO:0031591)		iron ion binding (GO:0005506)|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)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						TGTGGGTAGAGGTGCTGCATG	0.622																																																	0													28	32	31					2																	200820127		1946	4140	6086	SO:0001583	missense	0			AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971			26754	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 60"	C2orf60		20739293	Standard	NM_001039693		Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.67C>A	2.37:g.200820127G>T	ENSP00000346627:p.Leu23Ile		B2RNE3|Q8N1R2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L23I	ENST00000354611.4	37	c.67	CCDS42795.1	2	.	.	.	.	.	.	.	.	.	.	G	7.609	0.674356	0.14841	.	.	ENSG00000162971	ENST00000354611	T	0.70631	-0.5	5.35	2.44	0.29823	.	0.207947	0.30676	U	0.009106	T	0.28067	0.0692	N	0.00368	-1.59	0.80722	D	1	B;B	0.20261	0.043;0.0	B;B	0.20184	0.028;0.002	T	0.05852	-1.0860	10	0.12430	T	0.62	-8.085	4.8758	0.13655	0.1735:0.0:0.5965:0.2301	.	23;23	A8KAJ9;A2RUC4	.;TYW5_HUMAN	I	23	ENSP00000346627:L23I	ENSP00000346627:L23I	L	-	1	0	TYW5	200528372	0.857000	0.29778	0.199000	0.23439	0.149000	0.21700	1.168000	0.31859	0.955000	0.37878	-0.137000	0.14449	CTC	TYW5	-	NULL	ENSG00000162971		0.622	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW5	HGNC	protein_coding	OTTHUMT00000256144.3	-	0	44	0	G	NM_001039693		200820127	-1	tier1	-	no_errors	ENST00000354611	ensembl	human	known	74_37	missense	5.88	80	5	SNP	0.725	T	T	200820127	G	T	200820127	3	4	162	1	0	0	0	0	1	0	0	0	2186	1000	35	3	912	3	C2orf60	2	200820127	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	72478342	200820127	42379246	19	41093											
COL4A3	1285	genome.wustl.edu	37	chr2	228118856	228118856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggggaaaagggagacaaggGagcaatgggcgagcctggac	13	2	20	6	1	0	1	0	0	0	1	0	6	0	4	1	6	2	1	1	6	4	0			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr2:228118856G>A	ENST00000396578.3	+	14	956	c.794G>A	c.(793-795)gGa>gAa	p.G265E	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	265	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)		GGAGACAAGGGAGCAATGGGC	0.423																																																	0													106	114	112					2																	228118856		1887	4118	6005	SO:0001583	missense	0				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.794G>A	2.37:g.228118856G>A	ENSP00000379823:p.Gly265Glu		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G265E	ENST00000396578.3	37	c.794	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223361	0.58668	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.98150	-4.75	5.49	5.49	0.81192	.	0.000000	0.53938	D	0.000054	D	0.99165	0.9711	H	0.96943	3.91	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.99063	1.0831	10	0.87932	D	0	.	14.8792	0.70519	0.0:0.0:1.0:0.0	.	265;265;265;265	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	E	265	ENSP00000379823:G265E	ENSP00000323334:G265E	G	+	2	0	COL4A3	227827100	0.997000	0.39634	0.939000	0.37840	0.339000	0.28857	4.489000	0.60309	2.584000	0.87258	0.467000	0.42956	GGA	COL4A3	-	NULL	ENSG00000169031		0.423	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	-	0	77	0	G	NM_000091		228118856	1	tier1	-	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	6.98	78	6	SNP	0.980	A	A	228118856	G	A	228118856	3	1	162	1	0	0	0	0	1	0	0	0	3698	1174	41	3	848	3	COL4A3	2	228118856	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	27298729	228118856	15080517	20	41094											
USP40	55230	genome.wustl.edu	37	chr2	234405457	234405457	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatctccagaacatatcaGaagttctttcagtgttgcat	12	14	7	8	0	4	2	2	0	2	2	5	2	4	2	1	0	2	4	1	0	4	5			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr2:234405457G>A	ENST00000427112.2	-	23	2769	c.2734C>T	c.(2734-2736)Ctg>Ttg	p.L912L	USP40_ENST00000251722.6_Silent_p.L912L|USP40_ENST00000450966.1_Silent_p.L924L|USP40_ENST00000409945.1_Silent_p.L88L			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	912					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GAACATATCAGAAGTTCTTTC	0.348																																																	0													122	114	116					2																	234405457		1831	4085	5916	SO:0001819	synonymous_variant	0			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2734C>T	2.37:g.234405457G>A			Q6NX38|Q70EL0	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.L924	ENST00000427112.2	37	c.2770	CCDS46547.1	2																																																																																			USP40	-	NULL	ENSG00000085982		0.348	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1	-	0	46	0	G	XM_114294		234405457	-1	tier1	-	no_errors	ENST00000450966	ensembl	human	known	74_37	silent	30.30	23	10	SNP	0.048	A	A	234405457	G	A	234405457	2	1	162	1	0	0	0	0	0	0	0	1	17121	933	33	3		3	USP40	2	234405457	Silent	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	6286601	234405457	8793916	21	41095											
CELSR3	1951	genome.wustl.edu	37	chr3	48699388	48699388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccgccggggggctgtcCtttctgctccggatgtcgtg	2	12	15	12	4	1	0	0	0	1	0	5	1	4	1	4	4	1	3	4	4	0	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr3:48699388C>T	ENST00000164024.4	-	1	960	c.680G>A	c.(679-681)aGg>aAg	p.R227K	CELSR3_ENST00000544264.1_Missense_Mutation_p.R227K|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	227					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)		GGGGGCTGTCCTTTCTGCTCC	0.652																																																	0													61	67	65					3																	48699388		2202	4299	6501	SO:0001583	missense	0			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.680G>A	3.37:g.48699388C>T	ENSP00000164024:p.Arg227Lys		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R227K	ENST00000164024.4	37	c.680	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	C	7.059	0.565916	0.13560	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70045	-0.45;-0.45	4.06	3.19	0.36642	.	.	.	.	.	T	0.44030	0.1274	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.29027	-1.0025	9	0.39692	T	0.17	.	8.0893	0.30790	0.0:0.807:0.0:0.193	.	227;297	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	K	227	ENSP00000164024:R227K;ENSP00000445694:R227K	ENSP00000164024:R227K	R	-	2	0	CELSR3	48674392	0.000000	0.05858	0.028000	0.17463	0.369000	0.29798	-1.817000	0.01719	1.316000	0.45131	0.609000	0.83330	AGG	CELSR3	-	NULL	ENSG00000008300		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1		0	27	0	C	NM_001407		48699388	-1			no_errors	ENST00000544264	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.036	T	T	48699388	C	T	48699388	3	4	162	1	0	0	0	0	1	0	0	0	3230	681	24	3	9398	3	CELSR3	3	48699388	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09		48699388	149323042	22	41096											
FRMD4B	23150	genome.wustl.edu	37	chr3	69230096	69230096	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggagaacaaggtacttgCagccccgcaaaccccaggca	12	5	10	14	1	0	1	0	0	0	1	0	2	0	1	4	3	5	4	4	3	4	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr3:69230096C>G	ENST00000398540.3	-	21	2888	c.2805G>C	c.(2803-2805)ctG>ctC	p.L935L	FRMD4B_ENST00000542259.1_Silent_p.L881L|FRMD4B_ENST00000478263.1_Silent_p.L587L	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	935					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)		AAGGTACTTGCAGCCCCGCAA	0.532																																																	0													88	85	86					3																	69230096		1992	4159	6151	SO:0001819	synonymous_variant	0			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.2805G>C	3.37:g.69230096C>G			Q8TAI3	Silent	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.L935	ENST00000398540.3	37	c.2805	CCDS46863.1	3																																																																																			FRMD4B	-	NULL	ENSG00000114541		0.532	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1		0	10	0	C			69230096	-1			no_errors	ENST00000398540	ensembl	human	known	74_37	silent	41.67	7	5	SNP	1.000	G	G	69230096	C	G	69230096	2	3	162	1	0	0	0	0	0	0	0	1	6076	697	25	5		5	FRMD4B	3	69230096	Silent	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	20530708	69230096	128792334	23	41097											
ROBO1	6091	genome.wustl.edu	37	chr3	78680436	78680436	+	Frame_Shift_Del	DEL	T	T	-																															accttgggtgttcttgccccTttcttgtgcccctgactccc																										TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr3:78680436delT	ENST00000464233.1	-	25	3614	c.3501delA	c.(3499-3501)aaafs	p.K1167fs	ROBO1_ENST00000495273.1_Frame_Shift_Del_p.K1122fs|ROBO1_ENST00000436010.2_Frame_Shift_Del_p.K1128fs|ROBO1_ENST00000467549.1_Frame_Shift_Del_p.K1067fs	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1167					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)		TTCTTGCCCCTTTCTTGTGCC	0.458																																																	0													146	144	145					3																	78680436		2044	4182	6226	SO:0001589	frameshift_variant	0			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.3501delA	3.37:g.78680436delT	ENSP00000420321:p.Lys1167fs		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A1169fs	ENST00000464233.1	37	c.3501	CCDS54611.1	3																																																																																			ROBO1	-	NULL	ENSG00000169855		0.458	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1		0	59	0	T	NM_002941		78680436	-1	tier1		no_errors	ENST00000464233	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-	-	78680436	T	-	78680436	7	5	162	1	0	1	0	1	0	0	0	0	13558	1606	56	0	1482	0	ROBO1	3	78680436	Frame_Shift_Del	DEL	T	TCGA-VR-A8EP-01A-31D-A403-09	9450340	78680436	119341994	24	41098											
CRYBG3	131544	genome.wustl.edu	37	chr3	97617998	97617999	+	In_Frame_Ins	INS	-	-	TTT																															agatgggttgcctaccagcaINSaaagttcttctgtggagaac																										TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr3:97617998_97617999insTTT	ENST00000182096.4	+	11	2082_2083	c.2018_2019insTTT	c.(2017-2022)caaaag>caTTTaaag	p.673_673Q>HL		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2621							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GCCTACCAGCAAAAGTTCTTCT	0.327																																																	0																																										SO:0001652	inframe_insertion	0					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	Exception_encountered	3.37:g.97617998_97617999insTTT	ENSP00000182096:p.Gln673delinsHisLeu		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	In_Frame_Ins	INS	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.Q673in_frame_insHL	ENST00000182096.4	37	c.2018_2019		3																																																																																			CRYBG3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	ENSG00000080200		0.327	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1		0	44	0	-	NM_153605		97617999	1	tier1		no_errors	ENST00000182096	ensembl	human	known	74_37	in_frame_ins	36.36	56	32	INS	1.000:1.000	TTT	TTT	97617999	-	TTT	97617998	7	5	162	1	0	1	1	0	0	0	0	0	3920	130	5	0	2060	0	CRYBG3	3	97617998	In_Frame_Ins	INS	-	TCGA-VR-A8EP-01A-31D-A403-09	18937562	97617998	100404432	25	41099											
NPHP3	27031	genome.wustl.edu	37	chr3	132441186	132441186	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgcggggctcacgagcgacGaggcggtccccatggcgtcc	5	4	16	16	7	1	0	1	0	0	0	3	3	3	0	4	5	1	1	4	5	0	0			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr3:132441186G>C	ENST00000337331.5	-	1	100	c.14C>G	c.(13-15)tCg>tGg	p.S5W	NPHP3_ENST00000326682.8_Missense_Mutation_p.S5W|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000343113.4_Missense_Mutation_p.S5W|NPHP3-AS1_ENST00000504440.1_RNA|NPHP3_ENST00000383282.2_Missense_Mutation_p.S5W	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	5					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACGAGCGACGAGGCGGTCCC	0.701																																																	0													11	12	12					3																	132441186		1878	3735	5613	SO:0001583	missense	0			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.14C>G	3.37:g.132441186G>C	ENSP00000338766:p.Ser5Trp		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S5W	ENST00000337331.5	37	c.14	CCDS3078.1	3	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473638	0.63737	.	.	ENSG00000113971	ENST00000326682;ENST00000337331;ENST00000343113;ENST00000383282	D;D;D;D	0.94931	-3.56;-3.44;-2.23;-2.33	3.58	3.58	0.41010	.	0.000000	0.64402	D	0.000001	D	0.94722	0.8297	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95631	0.8689	10	0.87932	D	0	-7.2811	15.3629	0.74496	0.0:0.0:1.0:0.0	.	5	Q7Z494	NPHP3_HUMAN	W	5	ENSP00000319909:S5W;ENSP00000338766:S5W;ENSP00000344802:S5W;ENSP00000372769:S5W	ENSP00000319909:S5W	S	-	2	0	NPHP3	133923876	1.000000	0.71417	0.856000	0.33681	0.070000	0.16714	6.479000	0.73600	1.981000	0.57761	0.500000	0.49745	TCG	NPHP3	-	NULL	ENSG00000113971		0.701	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2	-	0	9	0	G	NM_153240		132441186	-1	tier1	-	no_errors	ENST00000337331	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	C	C	132441186	G	C	132441186	3	2	162	1	0	0	0	0	1	0	0	0	10619	1059	37	5	4086	5	NPHP3	3	132441186	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	34823188	132441186	65581244	26	41100											
FAIM	55179	genome.wustl.edu	37	chr3	138340279	138340279	+	Silent	SNP	T	T	C	0	1	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	agcctagaaaaaatgacagaTctcgtagctgtttgggatgt	13	11	11	6	1	1	3	0	1	1	2	2	4	1	4	1	1	2	3	1	1	5	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr3:138340279T>C	ENST00000393035.2	+	2	118	c.9T>C	c.(7-9)gaT>gaC	p.D3D	FAIM_ENST00000464668.1_Silent_p.D3D|FAIM_ENST00000360570.3_Silent_p.D25D|FAIM_ENST00000393034.2_Silent_p.D3D|FAIM_ENST00000338446.4_Silent_p.D37D	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	3					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						AAATGACAGATCTCGTAGCTG	0.368																																																	0													125	124	125					3																	138340279		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.9T>C	3.37:g.138340279T>C			Q6IAN2	Silent	SNP	pfam_FAIM	p.D37	ENST00000393035.2	37	c.111	CCDS3103.1	3																																																																																			FAIM	-	pfam_FAIM	ENSG00000158234		0.368	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAIM	HGNC	protein_coding	OTTHUMT00000357979.1	-	0	64	0	T	NM_001033032		138340279	1	tier1	-	no_errors	ENST00000338446	ensembl	human	known	74_37	silent	33.33	60	30	SNP	0.982	C	C	138340279	T	C	138340279	2	2	162	1	0	0	0	0	0	0	0	1	5394	1432	50	4		4	FAIM	3	138340279	Silent	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	5899093	138340279	59682151	27	41101											
SGEF	26084	genome.wustl.edu	37	chr3	153935682	153935682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgactatgcaatgagggcGcccggaagatggaaaggact	12	7	14	8	3	0	2	0	1	0	1	1	6	0	5	1	4	1	1	1	4	4	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr3:153935682G>A	ENST00000356448.4	+	10	2154	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.A624T	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	624					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CAATGAGGGCGCCCGGAAGAT	0.438																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)												0													94	88	90					3																	153935682		1862	4108	5970	SO:0001583	missense	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1870G>A	3.37:g.153935682G>A	ENSP00000348828:p.Ala624Thr		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A624T	ENST00000356448.4	37	c.1870	CCDS46938.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.190185	0.94923	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.29142	1.58;1.58	5.05	5.05	0.67936	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.63129	0.2485	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.83275	0.85;0.996	T	0.70335	-0.4900	10	0.72032	D	0.01	-24.8228	18.7816	0.91934	0.0:0.0:1.0:0.0	.	624;624	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	T	624	ENSP00000348828:A624T;ENSP00000423418:A624T	ENSP00000348828:A624T	A	+	1	0	ARHGEF26	155418372	1.000000	0.71417	0.964000	0.40570	0.911000	0.54048	9.036000	0.93758	2.504000	0.84457	0.655000	0.94253	GCC	ARHGEF26	-	superfamily_DH-domain	ENSG00000114790		0.438	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	HGNC	protein_coding	OTTHUMT00000353287.3	-	0	49	0	G	NM_015595		153935682	1	tier1	-	no_errors	ENST00000356448	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.999	A	A	153935682	G	A	153935682	3	1	162	1	0	0	0	0	1	0	0	0	14250	1087	38	1	1904	1	SGEF	3	153935682	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	15595403	153935682	44086748	28	41102											
OPA1	4976	genome.wustl.edu	37	chr3	193380719	193380719	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacagtccggaagaaccttGaatcccgaggagtagaagta	14	6	11	10	2	0	3	0	1	0	2	2	6	2	5	4	2	1	2	4	2	6	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr3:193380719G>C	ENST00000392438.3	+	24	2698	c.2464G>C	c.(2464-2466)Gaa>Caa	p.E822Q	OPA1_ENST00000361715.2_Missense_Mutation_p.E841Q|OPA1_ENST00000361510.2_Missense_Mutation_p.E877Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E840Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E823Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E859Q	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	822					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)		GAAGAACCTTGAATCCCGAGG	0.388																																																	0													91	89	89					3																	193380719		2203	4300	6503	SO:0001583	missense	0			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.2464G>C	3.37:g.193380719G>C	ENSP00000376233:p.Glu822Gln		D3DNW4	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	p.E877Q	ENST00000392438.3	37	c.2629	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313144	0.60414	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000445863	D;D;D;D;D;D;D	0.94931	-3.15;-3.17;-3.16;-3.15;-3.16;-3.56;-2.29	5.85	5.85	0.93711	.	0.092461	0.64402	D	0.000001	D	0.93595	0.7955	L	0.28776	0.89	0.80722	D	1	B;D;B;B;P;B;P;B	0.56521	0.131;0.976;0.131;0.131;0.929;0.131;0.866;0.22	B;P;B;B;P;B;P;B	0.57152	0.109;0.814;0.109;0.109;0.515;0.109;0.645;0.109	D	0.90231	0.4279	10	0.08381	T	0.77	-25.9139	19.1531	0.93496	0.0:0.0:1.0:0.0	.	786;822;804;823;840;859;841;877	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Q	859;822;877;841;840;823;14	ENSP00000354681:E859Q;ENSP00000376233:E822Q;ENSP00000355324:E877Q;ENSP00000355311:E841Q;ENSP00000354429:E840Q;ENSP00000354781:E823Q;ENSP00000398358:E14Q	ENSP00000354781:E823Q	E	+	1	0	OPA1	194863413	1.000000	0.71417	0.777000	0.31699	0.998000	0.95712	9.357000	0.97099	2.753000	0.94483	0.655000	0.94253	GAA	OPA1	-	NULL	ENSG00000198836		0.388	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	-	0	88	0	G	NM_130837		193380719	1	tier1	-	no_errors	ENST00000361510	ensembl	human	known	74_37	missense	33.33	78	39	SNP	1.000	C	C	193380719	G	C	193380719	3	2	162	1	0	0	0	0	1	0	0	0	10910	1291	45	5	2731	5	OPA1	3	193380719	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	39445037	193380719	4641711	29	41103											
IQCG	84223	genome.wustl.edu	37	chr3	197665569	197665569	+	Frame_Shift_Del	DEL	A	A	-																															tgggtccttcctcagttattAacggactgggtatttttgtg																										TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr3:197665569delA	ENST00000265239.6	-	5	789	c.365delT	c.(364-366)ttafs	p.L122fs	IQCG_ENST00000455191.1_Frame_Shift_Del_p.L122fs|IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000453254.1_Frame_Shift_Del_p.L122fs	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	122						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTCAGTTATTAACGGACTGGG	0.393																																																	0													243	258	253					3																	197665569		2203	4300	6503	SO:0001589	frameshift_variant	0			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.365delT	3.37:g.197665569delA	ENSP00000265239:p.Leu122fs		Q9BST2|Q9HAG8	Frame_Shift_Del	DEL	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.L122fs	ENST00000265239.6	37	c.365	CCDS3331.1	3																																																																																			IQCG	-	NULL	ENSG00000114473		0.393	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1		0	72	0	A	NM_032263		197665569	-1	tier1		no_errors	ENST00000265239	ensembl	human	known	74_37	frame_shift_del	20.97	98	26	DEL	0.000	-	-	197665569	A	-	197665569	7	5	162	1	0	1	0	1	0	0	0	0	7837	372	13	0	998	0	IQCG	3	197665569	Frame_Shift_Del	DEL	A	TCGA-VR-A8EP-01A-31D-A403-09	4284850	197665569	356861	30	41104											
TLL1	7092	genome.wustl.edu	37	chr4	166981293	166981293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtggttgcaccaacccagTacagaatttctgtgaagttt	12	12	9	8	0	1	2	0	1	1	1	1	2	1	2	2	1	3	4	2	1	5	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr4:166981293T>C	ENST00000061240.2	+	15	2607	c.1960T>C	c.(1960-1962)Tac>Cac	p.Y654H	TLL1_ENST00000507499.1_Missense_Mutation_p.Y677H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	654	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)		ACCAACCCAGTACAGAATTTC	0.413																																																	0													95	97	96					4																	166981293		2203	4300	6503	SO:0001583	missense	0			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.1960T>C	4.37:g.166981293T>C	ENSP00000061240:p.Tyr654His		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.Y654H	ENST00000061240.2	37	c.1960	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	T	14.69	2.609226	0.46527	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.28895	1.59;1.59	6.08	4.91	0.64330	CUB (5);	0.000000	0.64402	U	0.000001	T	0.42086	0.1187	L	0.41356	1.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.17319	-1.0373	10	0.13470	T	0.59	.	11.958	0.52993	0.0:0.067:0.0:0.933	.	677;654	E9PD25;O43897	.;TLL1_HUMAN	H	654;677	ENSP00000061240:Y654H;ENSP00000426082:Y677H	ENSP00000061240:Y654H	Y	+	1	0	TLL1	167200743	1.000000	0.71417	0.997000	0.53966	0.250000	0.25880	6.214000	0.72200	1.134000	0.42165	0.482000	0.46254	TAC	TLL1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom	ENSG00000038295		0.413	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0	57	0	T			166981293	1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	missense	41.94	36	26	SNP	1.000	C	C	166981293	T	C	166981293	3	2	162	1	0	0	0	0	1	0	0	0	15992	1638	57	4	2018	4	TLL1	4	166981293	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09		166981293	24172983	31	41105											
C4orf27	54969	genome.wustl.edu	37	chr4	170669922	170669922	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcaaatacattatctccaTttggaacaattatacaattt	16	14	3	8	0	1	0	0	0	1	0	2	1	1	1	1	1	4	1	1	1	8	6			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr4:170669922T>A	ENST00000393381.2	-	4	545	c.470A>T	c.(469-471)aAt>aTt	p.N157I		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	157						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)		ATTATCTCCATTTGGAACAAT	0.289																																																	0													66	77	73					4																	170669922		2189	4288	6477	SO:0001583	missense	0			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.470A>T	4.37:g.170669922T>A	ENSP00000406598:p.Asn157Ile			Missense_Mutation	SNP	pfam_DUF2228_C2H2_APLF-like	p.N157I	ENST00000393381.2	37	c.470	CCDS3813.1	4	.	.	.	.	.	.	.	.	.	.	T	10.37	1.330343	0.24167	.	.	ENSG00000056050	ENST00000393381	T	0.37584	1.19	5.2	-6.19	0.02078	.	0.659657	0.16951	N	0.192907	T	0.12646	0.0307	N	0.12502	0.225	0.29231	N	0.873254	B	0.11235	0.004	B	0.15052	0.012	T	0.12553	-1.0543	10	0.22109	T	0.4	-11.2101	3.4513	0.07499	0.2321:0.4588:0.097:0.212	.	157	Q9NWY4	CD027_HUMAN	I	157	ENSP00000406598:N157I	ENSP00000406598:N157I	N	-	2	0	C4orf27	170906497	0.971000	0.33674	0.950000	0.38849	0.896000	0.52359	0.365000	0.20348	-0.919000	0.03803	-0.487000	0.04747	AAT	C4orf27	-	pfam_DUF2228_C2H2_APLF-like	ENSG00000056050		0.289	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf27	HGNC	protein_coding	OTTHUMT00000363140.1	-	0	91	0	T	NM_017867		170669922	-1	tier1	-	no_errors	ENST00000393381	ensembl	human	known	74_37	missense	39.84	77	51	SNP	0.977	A	A	170669922	T	A	170669922	3	1	162	1	0	0	0	0	1	0	0	0	2265	1493	52	5	590	5	C4orf27	4	170669922	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	3688629	170669922	20484354	32	41106											
KIAA1430	57587	genome.wustl.edu	37	chr4	186084049	186084049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcactcctacaactgagaCcactcgtagcactggatgtc	10	9	8	14	1	1	1	1	1	0	1	4	3	2	2	2	1	3	3	2	1	3	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr4:186084049C>A	ENST00000458385.2	-	5	1621	c.1502G>T	c.(1501-1503)gGt>gTt	p.G501V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		501										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		ACAACTGAGACCACTCGTAGC	0.463																																																	0													47	49	49					4																	186084049		1911	4135	6046	SO:0001583	missense	0																														ENST00000458385.2:c.1502G>T	4.37:g.186084049C>A	ENSP00000409964:p.Gly501Val		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	NULL	p.G501V	ENST00000458385.2	37	c.1502	CCDS47168.1	4	.	.	.	.	.	.	.	.	.	.	C	8.473	0.857883	0.17178	.	.	ENSG00000164323	ENST00000458385	T	0.31769	1.48	4.7	1.72	0.24424	.	.	.	.	.	T	0.25005	0.0607	N	0.24115	0.695	0.58432	D	0.999991	P	0.50066	0.931	P	0.45310	0.476	T	0.06267	-1.0836	9	0.45353	T	0.12	-4.2851	14.2862	0.66247	0.0:0.3803:0.6197:0.0	.	501	Q9P2B7	K1430_HUMAN	V	501	ENSP00000409964:G501V	ENSP00000409964:G501V	G	-	2	0	KIAA1430	186321043	0.997000	0.39634	0.797000	0.32132	0.039000	0.13416	2.328000	0.43867	0.653000	0.30826	-0.172000	0.13284	GGT	KIAA1430	-	NULL	ENSG00000164323		0.463	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	-	0	44	0	C			186084049	-1	tier1	-	no_errors	ENST00000458385	ensembl	human	novel	74_37	missense	54.55	25	30	SNP	0.753	A	A	186084049	C	A	186084049	3	1	162	1	0	0	0	0	1	0	0	0	8259	507	18	3	100	3	KIAA1430	4	186084049	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	15414127	186084049	5070227	33	41107											
ROPN1L	83853	genome.wustl.edu	37	chr5	10448476	10448476	+	Missense_Mutation	SNP	T	T	C	0	1	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	aggcctgactcaaggactccTgaaagttttgcacaagcagg	12	8	11	10	0	1	2	1	2	0	0	2	3	2	3	2	3	2	3	2	3	3	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr5:10448476T>C	ENST00000503804.1	+	3	757	c.236T>C	c.(235-237)cTg>cCg	p.L79P	ROPN1L_ENST00000274134.4_Missense_Mutation_p.L79P|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	79					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CAAGGACTCCTGAAAGTTTTG	0.532																																																	0													60	60	60					5																	10448476		2203	4300	6503	SO:0001583	missense	0			AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"radial spoke head 11 homolog (Chlamydomonas)"	611756	"ropporin 1-like"			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.236T>C	5.37:g.10448476T>C	ENSP00000421405:p.Leu79Pro		D3DTC9|Q9BZX0	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.L79P	ENST00000503804.1	37	c.236	CCDS3879.1	5	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457360	0.63401	.	.	ENSG00000145491	ENST00000503804;ENST00000274134	T;T	0.21734	1.99;1.99	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.52240	0.1722	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60915	-0.7168	10	0.87932	D	0	-13.2929	14.575	0.68240	0.0:0.0:0.0:1.0	.	79	Q96C74	ROP1L_HUMAN	P	79	ENSP00000421405:L79P;ENSP00000274134:L79P	ENSP00000274134:L79P	L	+	2	0	ROPN1L	10501476	1.000000	0.71417	0.204000	0.23530	0.659000	0.38960	6.727000	0.74764	2.084000	0.62774	0.533000	0.62120	CTG	ROPN1L	-	NULL	ENSG00000145491		0.532	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROPN1L	HGNC	protein_coding	OTTHUMT00000367033.1	-	0	39	0	T	NM_031916		10448476	1	tier1	-	no_errors	ENST00000274134	ensembl	human	known	74_37	missense	23.33	46	14	SNP	0.996	C	C	10448476	T	C	10448476	3	2	162	1	0	0	0	0	1	0	0	0	13570	1580	55	4	242	4	ROPN1L	5	10448476	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09		10448476	170466784	34	41108											
GHR	2690	genome.wustl.edu	37	chr5	42719156	42719156	+	Missense_Mutation	SNP	T	T	C	0	1	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	agggatgtcccaatgtgacaTgcacccggaaatggtctcac	11	8	11	11	1	1	1	1	1	1	0	3	3	2	3	2	3	1	1	2	3	2	0			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr5:42719156T>C	ENST00000230882.4	+	10	1737	c.1547T>C	c.(1546-1548)aTg>aCg	p.M516T	GHR_ENST00000357703.3_Missense_Mutation_p.M494T|GHR_ENST00000537449.1_Missense_Mutation_p.M329T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	516					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAATGTGACATGCACCCGGAA	0.507																																																	0													80	74	76					5																	42719156		2203	4300	6503	SO:0001583	missense	0				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1547T>C	5.37:g.42719156T>C	ENSP00000230882:p.Met516Thr		Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.M516T	ENST00000230882.4	37	c.1547	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.243866	0.00271	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.34275	1.37;1.37;1.37	6.08	-10.4	0.00318	.	1.255480	0.04695	N	0.414928	T	0.18882	0.0453	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.31503	-0.9941	10	0.11485	T	0.65	2.6637	14.4112	0.67115	0.0:0.6605:0.1818:0.1577	.	516	P10912	GHR_HUMAN	T	516;494;329	ENSP00000230882:M516T;ENSP00000350335:M494T;ENSP00000442206:M329T	ENSP00000230882:M516T	M	+	2	0	GHR	42754913	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	-2.441000	0.01015	-1.369000	0.02147	-0.326000	0.08463	ATG	GHR	-	NULL	ENSG00000112964		0.507	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	-	0	63	0	T	NM_000163		42719156	1	tier1	-	no_errors	ENST00000230882	ensembl	human	known	74_37	missense	19.09	89	21	SNP	0.000	C	C	42719156	T	C	42719156	3	2	162	1	0	0	0	0	1	0	0	0	6397	1464	51	4	1581	4	GHR	5	42719156	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	32270680	42719156	138196104	35	41109											
ADAMTS6	11174	genome.wustl.edu	37	chr5	64468685	64468685	+	5'UTR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctcctgtgacccagcGaggaggagggcagcggccca	8	4	15	14	2	1	1	0	1	1	0	2	4	1	3	4	4	2	1	4	4	0	0			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr5:64468685G>T	ENST00000314351.5	-	0	720							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.R192C(1)|p.R1021C(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)		GTGACCCAGCGAGGAGGAGGG	0.557																																																	2	Substitution - Missense(2)	pancreas(2)											96	89	92					5																	64468685		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			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.-602C>A	5.37:g.64468685G>T			Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R1021S	ENST00000314351.5	37	c.3061		5	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434433	0.83776	.	.	ENSG00000049192	ENST00000381055	T	0.18016	2.24	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	L	0.48362	1.52	0.80722	D	1	P	0.49253	0.921	P	0.53062	0.717	T	0.00313	-1.1825	10	0.29301	T	0.29	.	19.5135	0.95154	0.0:0.0:1.0:0.0	.	1021	Q9UKP5	ATS6_HUMAN	S	1021	ENSP00000370443:R1021S	ENSP00000370443:R1021S	R	-	1	0	ADAMTS6	64504441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.288000	0.72679	2.622000	0.88805	0.650000	0.86243	CGC	ADAMTS6	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000049192		0.557	ADAMTS6-006	KNOWN	basic	processed_transcript	ADAMTS6	HGNC	protein_coding	OTTHUMT00000157334.2		0	14	0	G	NM_197941		64468685	-1			no_errors	ENST00000381055	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	64468685	G	T	64468685	1	4	162	0	1	0	0	0	0	0	0	0	270	1058	37	2		2	ADAMTS6	5	64468685	5'UTR	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	21749529	64468685	116446575	36	41110											
GIN1	54826	genome.wustl.edu	37	chr5	102444392	102444392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttaagatgaaggtcaccaTtttttccactacggaccatt	11	14	7	9	1	1	2	1	1	0	1	2	3	2	3	3	2	1	1	3	2	3	7			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr5:102444392T>C	ENST00000399004.2	-	2	114	c.20A>G	c.(19-21)aAt>aGt	p.N7S	GIN1_ENST00000508629.1_Missense_Mutation_p.N7S	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	7					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)		AAGGTCACCATTTTTTCCACT	0.348																																																	0													141	128	132					5																	102444392		1836	4091	5927	SO:0001583	missense	0			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.20A>G	5.37:g.102444392T>C	ENSP00000381970:p.Asn7Ser		B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.N7S	ENST00000399004.2	37	c.20	CCDS43349.1	5	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019322	0.35606	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.23552	2.0;1.9	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000007	T	0.12433	0.0302	N	0.08118	0	0.37144	D	0.901859	B;P	0.38535	0.15;0.635	B;B	0.32090	0.046;0.14	T	0.19976	-1.0289	10	0.44086	T	0.13	-13.0006	11.0833	0.48072	0.0:0.0713:0.0:0.9287	.	7;7	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	S	7	ENSP00000381970:N7S;ENSP00000427162:N7S	ENSP00000381970:N7S	N	-	2	0	GIN1	102472291	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.326000	0.43849	2.323000	0.78572	0.528000	0.53228	AAT	GIN1	-	NULL	ENSG00000145723		0.348	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIN1	HGNC	protein_coding	OTTHUMT00000370478.3	-	0	83	0	T	NM_017676		102444392	-1	tier1	-	no_errors	ENST00000399004	ensembl	human	known	74_37	missense	40.26	46	31	SNP	1.000	C	C	102444392	T	C	102444392	3	2	162	1	0	0	0	0	1	0	0	0	6412	1493	52	4	1576	4	GIN1	5	102444392	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	37975707	102444392	78470868	37	41111											
PCDHGB6	56100	genome.wustl.edu	37	chr5	140789345	140789345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgatcacgagcagctgCgcgccttcgcgctcacgctg	5	9	11	16	6	2	1	2	1	0	0	3	2	2	1	2	0	3	4	2	0	0	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr5:140789345C>T	ENST00000520790.1	+	1	1576	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R526C(1)		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)			CGAGCAGCTGCGCGCCTTCGC	0.687																																																	1	Substitution - Missense(1)	endometrium(1)											19	22	21					5																	140789345		2024	4170	6194	SO:0001583	missense	0			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.1576C>T	5.37:g.140789345C>T	ENSP00000428603:p.Arg526Cys		Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R526C	ENST00000520790.1	37	c.1576	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	c	16.05	3.011791	0.54468	.	.	ENSG00000253305	ENST00000520790	T	0.01767	4.65	5.36	5.36	0.76844	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.15912	0.0383	H	0.95816	3.725	0.34954	D	0.751481	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.26395	-1.0104	9	0.87932	D	0	.	12.5011	0.55955	0.2871:0.7129:0.0:0.0	.	526;526	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	C	526	ENSP00000428603:R526C	ENSP00000428603:R526C	R	+	1	0	PCDHGB6	140769529	0.002000	0.14202	1.000000	0.80357	0.577000	0.36160	1.366000	0.34193	2.517000	0.84864	0.462000	0.41574	CGC	PCDHGB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253305		0.687	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1		0	29	0	C	NM_018926		140789345	1			no_errors	ENST00000520790	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.989	T	T	140789345	C	T	140789345	3	4	162	1	0	0	0	0	1	0	0	0	11606	768	27	1	1578	1	PCDHGB6	5	140789345	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	38344953	140789345	40125915	38	41112											
SPRY4	81848	genome.wustl.edu	37	chr5	141693968	141693968	+	Missense_Mutation	SNP	A	A	G	1	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	ggagagagcacccatgaaggAccagcgggcgcagcagttgg	11	3	17	10	2	0	2	0	1	0	1	0	5	0	4	2	4	3	4	2	4	1	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr5:141693968A>G	ENST00000434127.2	-	2	949	c.706T>C	c.(706-708)Tcc>Ccc	p.S236P	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Missense_Mutation_p.S259P	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	236	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCATGAAGGACCAGCGGGCG	0.667									Testicular Cancer, Familial Clustering of																																								0													67	66	66					5																	141693968		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.706T>C	5.37:g.141693968A>G	ENSP00000399468:p.Ser236Pro		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	pfam_Sprouty	p.S259P	ENST00000434127.2	37	c.775	CCDS47296.1	5	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154958	0.57259	.	.	ENSG00000187678	ENST00000344120;ENST00000434127	T;T	0.64438	-0.1;-0.1	4.92	4.92	0.64577	.	0.061176	0.64402	D	0.000002	T	0.67822	0.2934	L	0.53249	1.67	0.51233	D	0.999917	D	0.53462	0.96	P	0.56514	0.8	T	0.65463	-0.6162	10	0.30078	T	0.28	-30.4589	11.9781	0.53105	0.8559:0.1441:0.0:0.0	.	236	Q9C004	SPY4_HUMAN	P	259;236	ENSP00000344967:S259P;ENSP00000399468:S236P	ENSP00000344967:S259P	S	-	1	0	SPRY4	141674152	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.755000	0.68750	2.051000	0.60960	0.459000	0.35465	TCC	SPRY4	-	pfam_Sprouty	ENSG00000187678		0.667	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY4	HGNC	protein_coding	OTTHUMT00000370652.1	-	0	21	0	A			141693968	-1	tier1	-	no_errors	ENST00000344120	ensembl	human	known	74_37	missense	57.58	14	19	SNP	1.000	G	G	141693968	A	G	141693968	3	3	162	1	0	0	0	0	1	0	0	0	15155	275	10	4	197	4	SPRY4	5	141693968	Missense_Mutation	SNP	A	TCGA-VR-A8EP-01A-31D-A403-09	904623	141693968	39221292	39	41113											
BOD1	91272	genome.wustl.edu	37	chr5	173043252	173043252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcggaagctgtcaaaaaggCcccggctcttgagctgctcc	8	7	13	13	2	2	1	1	1	1	0	3	2	3	2	3	4	3	4	3	4	3	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr5:173043252C>T	ENST00000311086.4	-	1	411	c.188G>A	c.(187-189)gGc>gAc	p.G63D	BOD1_ENST00000285908.5_Missense_Mutation_p.G63D|BOD1_ENST00000480951.1_Missense_Mutation_p.G63D|BOD1_ENST00000471339.1_5'UTR	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	63					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GTCAAAAAGGCCCCGGCTCTT	0.721																																																	0													4	6	5					5																	173043252		2075	4163	6238	SO:0001583	missense	0			AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"biorientation defective 1"		"family with sequence similarity 44, member B"	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.188G>A	5.37:g.173043252C>T	ENSP00000309644:p.Gly63Asp		B4DXH8|Q9BTW1	Missense_Mutation	SNP	NULL	p.G63D	ENST00000311086.4	37	c.188	CCDS4389.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.136648	0.94517	.	.	ENSG00000145919	ENST00000311086;ENST00000285908;ENST00000477985;ENST00000480951	T;T	0.25912	1.77;1.77	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60964	-0.7158	10	0.87932	D	0	-11.7075	16.2406	0.82405	0.0:1.0:0.0:0.0	.	63;63	Q96IK1-2;Q96IK1	.;BOD1_HUMAN	D	63;63;37;63	ENSP00000309644:G63D;ENSP00000285908:G63D	ENSP00000285908:G63D	G	-	2	0	BOD1	172975858	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.010000	0.76353	2.143000	0.66587	0.563000	0.77884	GGC	BOD1	-	NULL	ENSG00000145919		0.721	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1	HGNC	protein_coding	OTTHUMT00000252963.1	-	0	24	0	C	NM_138369		173043252	-1	tier1	-	no_errors	ENST00000311086	ensembl	human	known	74_37	missense	59.09	9	13	SNP	1.000	T	T	173043252	C	T	173043252	3	4	162	1	0	0	0	0	1	0	0	0	1484	739	26	3	413	3	BOD1	5	173043252	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	31349284	173043252	7872008	40	41114											
FLT4	2324	genome.wustl.edu	37	chr5	180038364	180038364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcgctgcaggcttggcGggctgtcctcagcgtcagcc	3	9	16	13	3	2	0	2	0	0	0	3	0	3	0	2	4	3	4	2	4	0	1	rs201698561		TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr5:180038364G>T	ENST00000261937.6	-	27	3731	c.3653C>A	c.(3652-3654)cCg>cAg	p.P1218Q	FLT4_ENST00000502649.1_Missense_Mutation_p.P1218Q|FLT4_ENST00000393347.3_Missense_Mutation_p.P1218Q	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1218					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGCTTGGCGGGCTGTCCTC	0.637																																					Colon(97;1075 1466 27033 27547 35871)												0													70	74	73					5																	180038364		2203	4300	6503	SO:0001583	missense	0			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.3653C>A	5.37:g.180038364G>T	ENSP00000261937:p.Pro1218Gln		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.P1218Q	ENST00000261937.6	37	c.3653	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	G	7.857	0.725169	0.15439	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.76060	-0.99;-0.98;-0.98	3.95	3.05	0.35203	.	.	.	.	.	T	0.52948	0.1766	N	0.08118	0	0.43191	D	0.995023	B;B	0.14805	0.011;0.011	B;B	0.15870	0.006;0.014	T	0.51220	-0.8733	9	0.54805	T	0.06	.	8.8433	0.35155	0.0:0.0:0.7763:0.2237	.	1218;1218	E9PD35;P35916	.;VGFR3_HUMAN	Q	1218	ENSP00000261937:P1218Q;ENSP00000377016:P1218Q;ENSP00000426057:P1218Q	ENSP00000261937:P1218Q	P	-	2	0	FLT4	179970970	0.843000	0.29541	0.776000	0.31678	0.035000	0.12851	0.999000	0.29757	1.202000	0.43218	0.555000	0.69702	CCG	FLT4	-	NULL	ENSG00000037280		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	-	0	45	0	G			180038364	-1	tier1	-	no_errors	ENST00000261937	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.828	T	T	180038364	G	T	180038364	3	4	162	1	0	0	0	0	1	0	0	0	5966	1116	39	2	462	2	FLT4	5	180038364	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	6995112	180038364	876896	41	41115											
HLA-B	3106	genome.wustl.edu	37	chr6	31324886	31324887	+	Frame_Shift_Ins	INS	-	-	C																															ccaggtctcggtcagggccaINSgggccgccgagagcagcagg																								rs1131165	byFrequency	TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr6:31324886_31324887insC	ENST00000412585.2	-	1	77_78	c.49_50insG	c.(49-51)ctgfs	p.L17fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	17			L -> V (in dbSNP:rs1131165).		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						GGTCAGGGCCAGGGCCGCCGAG	0.703									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0																																										SO:0001589	frameshift_variant	0	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.49_50insG	6.37:g.31324886_31324887insC	ENSP00000399168:p.Leu17fs		Q29764	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.L17fs	ENST00000412585.2	37	c.50_49	CCDS34394.1	6																																																																																			HLA-B	-	NULL	ENSG00000234745		0.703	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4		0	19	0	-	NM_005514		31324887	-1	tier1		no_errors	ENST00000412585	ensembl	human	known	74_37	frame_shift_ins	25.00	18	6	INS	0.408:0.332	C	C	31324887	-	C	31324886	7	5	162	1	0	1	1	0	0	0	0	0	7223	188	7	0	1066	0	HLA-B	6	31324886	Frame_Shift_Ins	INS	-	TCGA-VR-A8EP-01A-31D-A403-09		31324886	139790181	42	41116											
FKBP5	2289	genome.wustl.edu	37	chr6	35588005	35588005	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaaatggcatatctctccTttcttcatggtagccacccc	9	13	6	13	0	3	0	1	0	2	0	5	0	4	0	4	2	1	3	4	2	4	5			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr6:35588005T>A	ENST00000539068.1	-	4	499	c.297A>T	c.(295-297)aaA>aaT	p.K99N	FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000542713.1_Missense_Mutation_p.K99N|FKBP5_ENST00000536438.1_Missense_Mutation_p.K99N|FKBP5_ENST00000357266.4_Missense_Mutation_p.K99N	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	99	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						ATATCTCTCCTTTCTTCATGG	0.428																																																	0													164	135	145					6																	35588005		2203	4300	6503	SO:0001583	missense	0			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"Tetratricopeptide (TTC) repeat domain containing"	3721	protein-coding gene	gene with protein product		602623	"FK506-binding protein 5"			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.297A>T	6.37:g.35588005T>A	ENSP00000441205:p.Lys99Asn		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.K99N	ENST00000539068.1	37	c.297	CCDS4808.1	6	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113170	0.77210	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.75	2.18	0.27775	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.159876	0.53938	D	0.000046	T	0.53883	0.1824	M	0.87758	2.905	0.52501	D	0.999959	P;D	0.56746	0.953;0.977	P;P	0.55508	0.777;0.749	T	0.58008	-0.7712	10	0.52906	T	0.07	-4.2287	5.5088	0.16868	0.122:0.2414:0.0:0.6367	.	99;99	F5H7R1;Q13451	.;FKBP5_HUMAN	N	99;99;99;99;62;99;97	ENSP00000444810:K99N;ENSP00000349811:K99N;ENSP00000441205:K99N;ENSP00000442340:K99N	ENSP00000338160:K99N	K	-	3	2	FKBP5	35695983	0.950000	0.32346	1.000000	0.80357	0.991000	0.79684	0.001000	0.13038	0.998000	0.38996	0.528000	0.53228	AAA	FKBP5	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000096060		0.428	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP5	HGNC	protein_coding	OTTHUMT00000040309.2	-	0	62	0	T			35588005	-1	tier1	-	no_errors	ENST00000357266	ensembl	human	known	74_37	missense	35.63	56	31	SNP	0.994	A	A	35588005	T	A	35588005	3	1	162	1	0	0	0	0	1	0	0	0	5933	1606	56	5	1166	5	FKBP5	6	35588005	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	4263119	35588005	135527062	43	41117											
DNAH8	1769	genome.wustl.edu	37	chr6	38891915	38891915	+	Missense_Mutation	SNP	T	T	C	0	1	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	cagaaaacctgaatcttattTcaatgttggtggatcctcca	12	13	7	9	0	2	2	1	1	1	1	4	3	4	3	3	2	1	1	3	2	5	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr6:38891915T>C	ENST00000359357.3	+	71	10542	c.10288T>C	c.(10288-10290)Tca>Cca	p.S3430P	DNAH8_ENST00000449981.2_Missense_Mutation_p.S3647P|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3394P|RP1-207H1.3_ENST00000418399.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3430					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						GAATCTTATTTCAATGTTGGT	0.358																																																	0													96	108	104					6																	38891915		2203	4300	6503	SO:0001583	missense	0			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.10288T>C	6.37:g.38891915T>C	ENSP00000352312:p.Ser3430Pro		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S3430P	ENST00000359357.3	37	c.10288		6	.	.	.	.	.	.	.	.	.	.	T	14.91	2.675709	0.47781	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.57273	0.41;0.41;0.41	6.06	4.87	0.63330	.	0.204762	0.42294	D	0.000726	T	0.45296	0.1335	M	0.85373	2.75	0.41383	D	0.987562	B	0.20164	0.042	B	0.29440	0.102	T	0.49293	-0.8955	10	0.44086	T	0.13	.	12.3533	0.55161	0.0:0.0:0.3418:0.6582	.	3430	Q96JB1	DYH8_HUMAN	P	3635;3635;3430;3394	ENSP00000333363:S3635P;ENSP00000352312:S3430P;ENSP00000402294:S3394P	ENSP00000333363:S3635P	S	+	1	0	DNAH8	38999893	0.963000	0.33076	1.000000	0.80357	0.992000	0.81027	1.673000	0.37534	1.026000	0.39733	0.533000	0.62120	TCA	DNAH8	-	NULL	ENSG00000124721		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0	79	0	T	NM_001206927		38891915	1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	7.69	84	7	SNP	1.000	C	C	38891915	T	C	38891915	3	2	162	1	0	0	0	0	1	0	0	0	4621	1783	62	4	10562	4	DNAH8	6	38891915	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	3303910	38891915	132223152	44	41118											
PTK7	5754	genome.wustl.edu	37	chr6	43127622	43127622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctaccaagtctgatgtctgGgccttcggtgtgctgatgtg	5	14	13	9	1	3	2	0	2	3	0	4	2	3	2	2	2	2	1	2	2	2	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr6:43127622G>T	ENST00000230419.4	+	19	3191	c.2970G>T	c.(2968-2970)tgG>tgT	p.W990C	PTK7_ENST00000481273.1_Missense_Mutation_p.W998C|PTK7_ENST00000352931.2_Missense_Mutation_p.W934C|PTK7_ENST00000345201.2_Missense_Mutation_p.W950C|PTK7_ENST00000349241.2_Missense_Mutation_p.W860C	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	990	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.W990C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGATGTCTGGGCCTTCGGTG	0.592																																																	1	Substitution - Missense(1)	lung(1)											158	126	137					6																	43127622		2203	4300	6503	SO:0001583	missense	0			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2970G>T	6.37:g.43127622G>T	ENSP00000230419:p.Trp990Cys		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W990C	ENST00000230419.4	37	c.2970	CCDS4884.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.877959|4.877959	0.91664|0.91664	.|.	.|.	ENSG00000112655|ENSG00000112655	ENST00000489707|ENST00000230419;ENST00000325774;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273	.|D;D;D;D;D	.|0.94576	.|-3.46;-3.46;-3.46;-3.46;-3.46	5.59|5.59	5.59|5.59	0.84812|0.84812	.|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|D	0.98298|0.98298	0.9436|0.9436	H|H	0.95260|0.95260	3.645|3.645	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;0.999;1.0;0.999;1.0;0.999;0.999	D|D	0.98880|0.98880	1.0769|1.0769	5|10	.|0.87932	.|D	.|0	.|.	19.9407|19.9407	0.97162|0.97162	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|998;316;335;860;950;934;990	.|E9PFZ5;F8W9X8;B3KP36;Q13308-3;Q13308-2;Q13308-4;Q13308	.|.;.;.;.;.;.;PTK7_HUMAN	V|C	285|990;316;860;934;950;998	.|ENSP00000230419:W990C;ENSP00000325462:W860C;ENSP00000326029:W934C;ENSP00000325992:W950C;ENSP00000418754:W998C	.|ENSP00000230419:W990C	G|W	+|+	2|3	0|0	PTK7|PTK7	43235600|43235600	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.758000|9.758000	0.98927|0.98927	2.787000|2.787000	0.95880|0.95880	0.591000|0.591000	0.81541|0.81541	GGG|TGG	PTK7	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000112655		0.592	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	HGNC	protein_coding	OTTHUMT00000040580.2		0	35	0	G			43127622	1			no_errors	ENST00000230419	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	43127622	G	T	43127622	3	4	162	1	0	0	0	0	1	0	0	0	12808	1241	43	3	3044	3	PTK7	6	43127622	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	4235707	43127622	127987445	45	41119											
TFAP2B	7021	genome.wustl.edu	37	chr6	50803934	50803934	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaactgtgggagaagttcaGagacggctgtcgccccctga	9	8	14	10	2	1	3	1	1	0	2	2	5	1	3	2	2	1	3	2	2	2	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr6:50803934G>C	ENST00000393655.3	+	4	931	c.762G>C	c.(760-762)caG>caC	p.Q254H	TFAP2B_ENST00000263046.4_Missense_Mutation_p.Q263H	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	254					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)					GAGAAGTTCAGAGACGGCTGT	0.502																																					Pancreas(116;1373 2332 5475 10752)												0													57	55	55					6																	50803934		2203	4300	6503	SO:0001583	missense	0			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.762G>C	6.37:g.50803934G>C	ENSP00000377265:p.Gln254His		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.Q263H	ENST00000393655.3	37	c.789	CCDS4934.2	6	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322457	0.41096	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97455	-4.39;-4.39	5.44	2.26	0.28386	Transcription factor AP-2, C-terminal (1);	0.062767	0.64402	D	0.000003	D	0.97511	0.9185	M	0.79926	2.475	0.58432	D	0.999994	D	0.67145	0.996	D	0.79108	0.992	D	0.97001	0.9729	10	0.54805	T	0.06	-15.5168	10.9808	0.47492	0.3248:0.0:0.6752:0.0	.	254	Q92481	AP2B_HUMAN	H	254;263	ENSP00000377265:Q254H;ENSP00000263046:Q263H	ENSP00000263046:Q263H	Q	+	3	2	TFAP2B	50911893	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	2.466000	0.45084	0.674000	0.31244	0.650000	0.86243	CAG	TFAP2B	-	pfam_TF_AP2_C	ENSG00000008196		0.502	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	-	0	25	0	G	NM_003221		50803934	1	tier1	-	no_errors	ENST00000263046	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	C	C	50803934	G	C	50803934	3	2	162	1	0	0	0	0	1	0	0	0	15835	933	33	5	776	5	TFAP2B	6	50803934	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	7676312	50803934	120311133	46	41120											
DST	667	genome.wustl.edu	37	chr6	56481466	56481466	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacccctgctgcagagcaaTttctggaggaacacgaatgc	12	7	10	12	1	1	1	0	0	1	1	1	4	1	3	2	2	6	3	2	2	4	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr6:56481466T>A	ENST00000370765.6	-	24	6906	c.6799A>T	c.(6799-6801)Att>Ttt	p.I2267F	DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1609					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)			TGCAGAGCAATTTCTGGAGGA	0.448																																																	0													94	96	96					6																	56481466		2203	4300	6503	SO:0001583	missense	0			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.6799A>T	6.37:g.56481466T>A	ENSP00000359801:p.Ile2267Phe		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I2267F	ENST00000370765.6	37	c.6799	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	T	10.00	1.233126	0.22626	.	.	ENSG00000151914	ENST00000370765	T	0.73152	-0.72	5.77	0.539	0.17156	.	.	.	.	.	T	0.44307	0.1287	.	.	.	0.18873	N	0.999983	B	0.26258	0.145	B	0.20384	0.029	T	0.24693	-1.0153	7	0.72032	D	0.01	.	12.0841	0.53688	0.0:0.5096:0.0:0.4904	.	2267	Q03001-3	.	F	2267	ENSP00000359801:I2267F	ENSP00000359801:I2267F	I	-	1	0	DST	56589425	0.000000	0.05858	0.007000	0.13788	0.975000	0.68041	-0.836000	0.04382	-0.059000	0.13154	0.528000	0.53228	ATT	DST	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000151914		0.448	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	-	0	42	0	T	NM_001723		56481466	-1	tier1	-	no_errors	ENST00000370765	ensembl	human	known	74_37	missense	19.57	37	9	SNP	0.000	A	A	56481466	T	A	56481466	3	1	162	1	0	0	0	0	1	0	0	0	4797	1493	52	5	13600	5	DST	6	56481466	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	5677532	56481466	114633601	47	41121											
MYO6	4646	genome.wustl.edu	37	chr6	76558106	76558106	+	Missense_Mutation	SNP	T	T	G	0	1	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	atgaaagatcctctgctagaTgaccatggtgattttattag	12	14	9	6	0	1	5	0	3	1	2	2	5	2	5	2	1	1	1	2	1	4	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr6:76558106T>G	ENST00000369977.3	+	11	1075	c.936T>G	c.(934-936)gaT>gaG	p.D312E	MYO6_ENST00000369985.4_Missense_Mutation_p.D312E|MYO6_ENST00000369981.3_Missense_Mutation_p.D312E|MYO6_ENST00000369975.1_Missense_Mutation_p.D312E	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	312	Myosin motor.|Responsible for slow ATPase activity. {ECO:0000250}.				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)		CTCTGCTAGATGACCATGGTG	0.383																																																	0													156	153	154					6																	76558106		2203	4300	6503	SO:0001583	missense	0			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.936T>G	6.37:g.76558106T>G	ENSP00000358994:p.Asp312Glu		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.D312E	ENST00000369977.3	37	c.936	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073353	0.76415	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	5.23	1.39	0.22231	.	0.000000	0.85682	D	0.000000	D	0.93347	0.7879	M	0.89904	3.07	0.58432	D	0.999998	D;D	0.55385	0.971;0.958	P;D	0.66497	0.578;0.944	D	0.92385	0.5916	10	0.87932	D	0	.	8.9846	0.35986	0.0:0.2174:0.0:0.7826	.	312;312	Q9UM54-2;Q9UM54-1	.;.	E	312	ENSP00000358998:D312E;ENSP00000359002:D312E;ENSP00000358994:D312E;ENSP00000358992:D312E	ENSP00000358992:D312E	D	+	3	2	MYO6	76614826	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	2.465000	0.45075	0.003000	0.14656	0.455000	0.32223	GAT	MYO6	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000196586		0.383	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	-	0	77	0	T	NM_004999		76558106	1	tier1	-	no_errors	ENST00000369981	ensembl	human	known	74_37	missense	15.32	94	17	SNP	1.000	G	G	76558106	T	G	76558106	3	3	162	1	0	0	0	0	1	0	0	0	10119	1461	51	4	974	4	MYO6	6	76558106	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	20076640	76558106	94556961	48	41122											
RARS2	57038	genome.wustl.edu	37	chr6	88226573	88226573	+	Missense_Mutation	SNP	A	A	C	1	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	cctgggttgaaagtcctgagAtgatttataaagcacctcgt	11	12	10	8	1	0	3	0	3	0	1	2	4	1	3	3	1	1	2	3	1	4	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr6:88226573A>C	ENST00000369536.5	-	18	1582	c.1537T>G	c.(1537-1539)Tct>Gct	p.S513A	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	513					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		AAGTCCTGAGATGATTTATAA	0.368																																																	0													122	113	116					6																	88226573		2203	4300	6503	SO:0001583	missense	0			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1537T>G	6.37:g.88226573A>C	ENSP00000358549:p.Ser513Ala		B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.S513A	ENST00000369536.5	37	c.1537	CCDS5011.1	6	.	.	.	.	.	.	.	.	.	.	A	3.922	-0.017860	0.07681	.	.	ENSG00000146282	ENST00000369536	T	0.72282	-0.64	5.37	4.2	0.49525	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);	0.161766	0.56097	D	0.000024	T	0.20861	0.0502	N	0.03209	-0.39	0.36416	D	0.864042	B	0.12013	0.005	B	0.12156	0.007	T	0.15065	-1.0450	10	0.02654	T	1	.	11.6064	0.51035	0.8513:0.1487:0.0:0.0	.	513	Q5T160	SYRM_HUMAN	A	513	ENSP00000358549:S513A	ENSP00000358549:S513A	S	-	1	0	RARS2	88283292	0.998000	0.40836	0.950000	0.38849	0.226000	0.24999	2.944000	0.49034	0.970000	0.38263	0.528000	0.53228	TCT	RARS2	-	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd,tigrfam_Arg-tRNA-ligase_Ia	ENSG00000146282		0.368	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	-	0	44	0	A	NM_020320		88226573	-1	tier1	-	no_errors	ENST00000369536	ensembl	human	known	74_37	missense	21.88	50	14	SNP	0.997	C	C	88226573	A	C	88226573	3	2	162	1	0	0	0	0	1	0	0	0	13104	333	12	4	211	4	RARS2	6	88226573	Missense_Mutation	SNP	A	TCGA-VR-A8EP-01A-31D-A403-09	11668467	88226573	82888494	49	41123											
SAMD3	154075	genome.wustl.edu	37	chr6	130496985	130496985	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttaggaattcaatcttaCttttatctggacaagtttaa	13	17	5	6	0	3	0	1	0	2	0	3	2	3	2	0	2	1	1	0	2	7	8			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr6:130496985C>G	ENST00000368134.2	-	10	1431		c.e10+1		SAMD3_ENST00000437477.2_Splice_Site|SAMD3_ENST00000457563.2_Splice_Site|SAMD3_ENST00000439090.2_Splice_Site|SAMD3_ENST00000532763.1_Splice_Site|SAMD3_ENST00000533296.1_5'Flank	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3											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)		TTCAATCTTACTTTTATCTGG	0.269																																																	0													73	78	76					6																	130496985		2202	4300	6502	SO:0001630	splice_region_variant	0			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.822+1G>C	6.37:g.130496985C>G			B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Splice_Site	SNP	-	e6+1	ENST00000368134.2	37	c.822+1	CCDS34539.1	6	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680801	0.68042	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9821	0.89145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SAMD3	130538678	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.019000	0.64060	2.677000	0.91161	0.655000	0.94253	.	SAMD3	-	-	ENSG00000164483		0.269	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3	-	0	51	0	C	NM_152552	Intron	130496985	-1	tier1	-	no_errors	ENST00000368134	ensembl	human	known	74_37	splice_site	38.89	33	21	SNP	1.000	G	G	130496985	C	G	130496985	5	3	162	1	0	0	0	0	0	0	1	0	13865	579	20	5	759	5	SAMD3	6	130496985	Splice_Site	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	42270412	130496985	40618082	50	41124											
TMEM200A	114801	genome.wustl.edu	37	chr6	130763018	130763018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgagtaacaacctaaagaGgggaacttctgaaacaaggt	16	9	10	6	0	1	3	0	2	1	1	1	4	1	4	1	3	4	1	1	3	7	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr6:130763018G>T	ENST00000296978.3	+	3	2322	c.1451G>T	c.(1450-1452)aGg>aTg	p.R484M	TMEM200A_ENST00000545622.1_Missense_Mutation_p.R484M|TMEM200A_ENST00000392429.1_Missense_Mutation_p.R484M	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	484						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AACCTAAAGAGGGGAACTTCT	0.289																																																	0													41	42	42					6																	130763018		2203	4300	6503	SO:0001583	missense	0			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1451G>T	6.37:g.130763018G>T	ENSP00000296978:p.Arg484Met		Q96PX5	Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.R484M	ENST00000296978.3	37	c.1451	CCDS5140.1	6	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246381	0.80024	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.75	5.75	0.90469	.	0.052320	0.64402	D	0.000001	T	0.60457	0.2270	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.66031	-0.6024	9	0.87932	D	0	-11.3326	19.9405	0.97159	0.0:0.0:1.0:0.0	.	484	Q86VY9	T200A_HUMAN	M	484	.	ENSP00000296978:R484M	R	+	2	0	TMEM200A	130804711	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.230000	0.95299	2.716000	0.92895	0.650000	0.86243	AGG	TMEM200A	-	NULL	ENSG00000164484		0.289	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200A	HGNC	protein_coding	OTTHUMT00000042201.1	-	0	40	0	G	NM_052913		130763018	1	tier1	-	no_errors	ENST00000296978	ensembl	human	known	74_37	missense	18.60	35	8	SNP	1.000	T	T	130763018	G	T	130763018	3	4	162	1	0	0	0	0	1	0	0	0	16170	1000	35	3	1453	3	TMEM200A	6	130763018	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	266033	130763018	40352049	51	41125											
ICA1	3382	genome.wustl.edu	37	chr7	8260925	8260925	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgctgggaagaaaagcaGagggcctttcctgtcgcttg	8	11	13	9	1	0	2	0	0	0	2	2	3	1	3	2	2	2	3	2	2	3	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr7:8260925G>C	ENST00000402384.3	-	5	626	c.360C>G	c.(358-360)ctC>ctG	p.L120L	ICA1_ENST00000476942.1_5'Flank|ICA1_ENST00000265577.7_Silent_p.L119L|ICA1_ENST00000422063.2_Silent_p.L120L|ICA1_ENST00000407906.1_Silent_p.L120L|ICA1_ENST00000401396.1_Silent_p.L108L|ICA1_ENST00000396675.3_Silent_p.L120L|ICA1_ENST00000406470.2_Silent_p.L120L			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	120	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AAGAAAAGCAGAGGGCCTTTC	0.493																																																	0													128	118	121					7																	8260925		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"islet cell autoantigen 1 (69kD)"			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.360C>G	7.37:g.8260925G>C			A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom	p.L120	ENST00000402384.3	37	c.360	CCDS34602.1	7																																																																																			ICA1	-	pfam_AH_dom,pfscan_AH_dom	ENSG00000003147		0.493	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	-	0	63	0	G	NM_004968		8260925	-1	tier1	-	no_errors	ENST00000422063	ensembl	human	known	74_37	silent	44.68	26	21	SNP	0.987	C	C	8260925	G	C	8260925	2	2	162	1	0	0	0	0	0	0	0	1	7504	929	33	5		5	ICA1	7	8260925	Silent	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09		8260925	150877738	52	41126											
URGCP	55665	genome.wustl.edu	37	chr7	43918191	43918191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcccgatgccagaagcagtCccactgcctgtggcccgggc	6	6	13	16	2	0	1	0	0	0	1	2	2	2	1	5	2	3	1	5	2	1	0			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr7:43918191C>T	ENST00000453200.1	-	6	1364	c.871G>A	c.(871-873)Gac>Aac	p.D291N	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Missense_Mutation_p.D282N|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.D248N|URGCP_ENST00000223341.7_Missense_Mutation_p.D248N|URGCP_ENST00000336086.6_Missense_Mutation_p.D248N|URGCP_ENST00000447717.3_Missense_Mutation_p.D248N			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	291					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						CAGAAGCAGTCCCACTGCCTG	0.607																																																	0													43	47	45					7																	43918191		1991	4153	6144	SO:0001583	missense	0				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.871G>A	7.37:g.43918191C>T	ENSP00000396918:p.Asp291Asn		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.D291N	ENST00000453200.1	37	c.871	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668154	0.67814	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.12465	2.71;2.71;2.69;2.71;2.68;2.71	5.52	4.64	0.57946	.	0.049835	0.85682	D	0.000000	T	0.11495	0.0280	L	0.39898	1.24	0.37764	D	0.926439	P;P	0.41524	0.753;0.753	B;B	0.34093	0.175;0.175	T	0.12116	-1.0560	10	0.38643	T	0.18	-32.4988	14.1815	0.65577	0.0:0.849:0.151:0.0	.	282;291	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	N	248;248;282;248;291;248	ENSP00000223341:D248N;ENSP00000336872:D248N;ENSP00000384955:D282N;ENSP00000392136:D248N;ENSP00000396918:D291N;ENSP00000402803:D248N	ENSP00000223341:D248N	D	-	1	0	URGCP	43884716	0.158000	0.22850	0.994000	0.49952	0.996000	0.88848	0.640000	0.24705	1.315000	0.45114	0.491000	0.48974	GAC	URGCP	-	NULL	ENSG00000106608		0.607	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	-	0	29	0	C	NM_001077664		43918191	-1	tier1	-	no_errors	ENST00000453200	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	T	T	43918191	C	T	43918191	3	4	162	1	0	0	0	0	1	0	0	0	17075	855	30	3	1928	3	URGCP	7	43918191	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	35657266	43918191	115220472	53	41127											
VSTM2A	222008	genome.wustl.edu	37	chr7	54617761	54617761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccccgcaagaacgtctccGcagccatccccagcagcatc	10	4	8	19	3	1	1	0	0	1	1	4	1	2	1	6	0	5	4	6	0	2	0	rs202226834		TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr7:54617761G>A	ENST00000407838.3	+	4	938	c.532G>A	c.(532-534)Gca>Aca	p.A178T	VSTM2A_ENST00000402026.2_Missense_Mutation_p.A177T|VSTM2A_ENST00000302287.3_Missense_Mutation_p.A178T|VSTM2A_ENST00000402613.3_Missense_Mutation_p.A178T|VSTM2A_ENST00000404951.1_Missense_Mutation_p.A178T|VSTM2A_ENST00000498834.1_3'UTR	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	178						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GAACGTCTCCGCAGCCATCCC	0.567																																																	0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	70	58	62		532	3.1	0	7		62	0,8600		0,0,4300	yes	missense	VSTM2A	NM_182546.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	178/237	54617761	1,13005	2203	4300	6503	SO:0001583	missense	0			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.532G>A	7.37:g.54617761G>A	ENSP00000384967:p.Ala178Thr		A4D2E9|B5MC94	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.A177T	ENST00000407838.3	37	c.529	CCDS5512.2	7	.	.	.	.	.	.	.	.	.	.	G	2.054	-0.417110	0.04766	2.27E-4	0.0	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.51574	0.7;0.8;0.72;0.7;0.77	5.06	3.12	0.35913	.	0.507797	0.22729	N	0.056352	T	0.34832	0.0911	L	0.46157	1.445	0.09310	N	1	B;P;P	0.48589	0.269;0.912;0.861	B;B;B	0.37144	0.048;0.242;0.146	T	0.13495	-1.0507	10	0.27785	T	0.31	-1.0664	10.2531	0.43381	0.0:0.0:0.5814:0.4186	.	178;178;178	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	T	178;178;178;177;178	ENSP00000303108:A178T;ENSP00000384967:A178T;ENSP00000384701:A178T;ENSP00000385933:A177T;ENSP00000384103:A178T	ENSP00000303108:A178T	A	+	1	0	VSTM2A	54585255	0.883000	0.30277	0.000000	0.03702	0.002000	0.02628	2.246000	0.43142	0.536000	0.28733	0.655000	0.94253	GCA	VSTM2A	-	NULL	ENSG00000170419		0.567	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSTM2A	HGNC	protein_coding	OTTHUMT00000318694.1	-	0	29	0	G	NM_182546		54617761	1	tier1	rs202226834	no_errors	ENST00000402026	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.004	A	A	54617761	G	A	54617761	3	1	162	1	0	0	0	0	1	0	0	0	17278	1087	38	1	546	1	VSTM2A	7	54617761	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	10699570	54617761	104520902	54	41128											
MOGAT3	346606	genome.wustl.edu	37	chr7	100843774	100843774	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgtgaagaggaggacaaaGacaagaagggagaagaaagg	20	1	17	3	1	0	6	0	1	0	5	0	10	0	8	0	4	0	0	0	4	6	0	rs200949443		TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr7:100843774G>C	ENST00000223114.4	-	2	298	c.132C>G	c.(130-132)gtC>gtG	p.V44V	MOGAT3_ENST00000440203.2_Silent_p.V44V|MOGAT3_ENST00000379423.3_Silent_p.V44V	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	44					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)					GGAGGACAAAGACAAGAAGGG	0.527																																																	0													58	61	60					7																	100843774		2199	4300	6499	SO:0001819	synonymous_variant	0			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.132C>G	7.37:g.100843774G>C			Q496A6|Q496A7|Q496A8|Q9UDW7	Silent	SNP	pfam_DAGAT	p.V44	ENST00000223114.4	37	c.132	CCDS5714.1	7																																																																																			MOGAT3	-	NULL	ENSG00000106384		0.527	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT3	HGNC	protein_coding	OTTHUMT00000059649.3	-	0	16	0	G	NM_178176		100843774	-1	tier1	-	no_errors	ENST00000440203	ensembl	human	known	74_37	silent	66.67	5	10	SNP	0.006	C	C	100843774	G	C	100843774	2	2	162	1	0	0	0	0	0	0	0	1	9734	929	33	5		5	MOGAT3	7	100843774	Silent	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	46226013	100843774	58294889	55	41129											
PMPCB	9512	genome.wustl.edu	37	chr7	102939017	102939017	+	Silent	SNP	A	A	T	1	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	cttcctacccccaaccagtcAttatattttggagagaacag	12	11	6	12	0	1	1	1	0	0	1	2	3	2	2	4	1	3	0	4	1	5	6			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr7:102939017A>T	ENST00000249269.4	+	2	140	c.102A>T	c.(100-102)tcA>tcT	p.S34S	PMPCB_ENST00000428154.1_Silent_p.S34S|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	34					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						CCAACCAGTCATTATATTTTG	0.353																																																	0													171	170	170					7																	102939017		2203	4300	6503	SO:0001819	synonymous_variant	0			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.102A>T	7.37:g.102939017A>T			O60416|Q96FV4	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.S34	ENST00000249269.4	37	c.102	CCDS5730.1	7																																																																																			PMPCB	-	NULL	ENSG00000105819		0.353	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCB	HGNC	protein_coding	OTTHUMT00000347913.1	-	0	57	0	A	NM_004279		102939017	1	tier1	-	no_errors	ENST00000249269	ensembl	human	known	74_37	silent	31.94	49	23	SNP	0.000	T	T	102939017	A	T	102939017	2	4	162	1	0	0	0	0	0	0	0	1	12180	204	8	5		5	PMPCB	7	102939017	Silent	SNP	A	TCGA-VR-A8EP-01A-31D-A403-09	2095243	102939017	56199646	56	41130											
DPP6	1804	genome.wustl.edu	37	chr7	154679398	154679398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgtgcagcctctgcgttttCcgagaggtacttgggcctcc	4	11	12	14	3	1	1	0	0	1	1	3	2	3	1	5	2	4	3	5	2	1	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr7:154679398C>T	ENST00000377770.3	+	23	2399	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	DPP6_ENST00000332007.3_Missense_Mutation_p.S691F|DPP6_ENST00000404039.1_Missense_Mutation_p.S689F|DPP6_ENST00000427557.1_Missense_Mutation_p.S646F			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	753					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)			TCTGCGTTTTCCGAGAGGTAC	0.587																																					NSCLC(125;1384 1783 2490 7422 34254)												0													210	221	217					7																	154679398		2074	4207	6281	SO:0001583	missense	0			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.2258C>T	7.37:g.154679398C>T	ENSP00000367001:p.Ser753Phe			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.S753F	ENST00000377770.3	37	c.2258		7	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809561	0.70797	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.65	4.65	0.58169	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59432	0.2193	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	T	0.67126	-0.5749	10	0.87932	D	0	-22.9507	17.5478	0.87867	0.0:1.0:0.0:0.0	.	646;691;753;689	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	F	689;753;691;646	ENSP00000385578:S689F;ENSP00000367001:S753F;ENSP00000328226:S691F;ENSP00000397303:S646F	ENSP00000328226:S691F	S	+	2	0	DPP6	154310331	1.000000	0.71417	0.568000	0.28447	0.691000	0.40173	6.434000	0.73408	2.126000	0.65437	0.563000	0.77884	TCC	DPP6	-	pfam_Peptidase_S9	ENSG00000130226		0.587	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	-	0	24	0	C	NM_130797		154679398	1	tier1	-	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	T	T	154679398	C	T	154679398	3	4	162	1	0	0	0	0	1	0	0	0	4744	855	30	3	2464	3	DPP6	7	154679398	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	51740381	154679398	4459265	57	41131											
SOX7	83595	genome.wustl.edu	37	chr8	10584082	10584082	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcggccggtacttgtaGttggggtagtcctgcatgtg	4	12	16	9	3	0	0	0	0	0	0	1	0	1	0	2	4	3	5	2	4	3	5			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr8:10584082G>A	ENST00000304501.1	-	2	411	c.333C>T	c.(331-333)aaC>aaT	p.N111N	SOX7_ENST00000553390.1_Silent_p.N163N|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000554914.1_Silent_p.N163N	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	111					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGTACTTGTAGTTGGGGTAGT	0.662																																																	0													45	49	48					8																	10584082		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.333C>T	8.37:g.10584082G>A			B4DKV0|Q53YD0	Silent	SNP	pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom	p.N163	ENST00000304501.1	37	c.489	CCDS5977.1	8																																																																																			SOX7	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000171056		0.662	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	HGNC	protein_coding	OTTHUMT00000207131.1	-	0	35	0	G			10584082	-1	tier1	-	no_errors	ENST00000553390	ensembl	human	known	74_37	silent	32.26	21	10	SNP	1.000	A	A	10584082	G	A	10584082	2	1	162	1	0	0	0	0	0	0	0	1	15001	1020	36	3		3	SOX7	8	10584082	Silent	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09		10584082	135779940	58	41132											
DOCK5	80005	genome.wustl.edu	37	chr8	25154103	25154103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacgaaaccagcaccattgCcctcttcaaggcccatgagg	11	7	9	14	1	2	2	1	2	1	0	2	3	2	2	4	2	3	1	4	2	2	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr8:25154103C>G	ENST00000276440.7	+	7	589	c.545C>G	c.(544-546)gCc>gGc	p.A182G	DOCK5_ENST00000481100.1_Missense_Mutation_p.A182G	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	182					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)		AGCACCATTGCCCTCTTCAAG	0.498																																					Pancreas(145;34 1887 3271 10937 30165)												0													100	86	91					8																	25154103		2203	4300	6503	SO:0001583	missense	0				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.545C>G	8.37:g.25154103C>G	ENSP00000276440:p.Ala182Gly		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.A182G	ENST00000276440.7	37	c.545	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624047	0.66901	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.56776	0.44;0.44	5.65	5.65	0.86999	.	0.189771	0.47852	D	0.000207	T	0.39572	0.1083	N	0.08118	0	0.45015	D	0.998033	B	0.19706	0.038	B	0.26614	0.071	T	0.24404	-1.0161	10	0.49607	T	0.09	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	182	Q9H7D0	DOCK5_HUMAN	G	182	ENSP00000429737:A182G;ENSP00000276440:A182G	ENSP00000276440:A182G	A	+	2	0	DOCK5	25210020	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	4.768000	0.62293	2.941000	0.99782	0.655000	0.94253	GCC	DOCK5	-	NULL	ENSG00000147459		0.498	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	-	0	30	0	C	NM_024940		25154103	1	tier1	-	no_errors	ENST00000276440	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G	G	25154103	C	G	25154103	3	3	162	1	0	0	0	0	1	0	0	0	4704	739	26	5	571	5	DOCK5	8	25154103	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	14570021	25154103	121209919	59	41133											
ADAM18	8749	genome.wustl.edu	37	chr8	39463837	39463837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattttagatgatttacatCattacaattgatggacaacc	14	16	5	6	0	1	3	1	2	0	1	1	4	1	4	1	1	3	0	1	1	6	7			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr8:39463837C>T	ENST00000265707.5	+	3	189	c.144C>T	c.(142-144)atC>atT	p.I48I	ADAM18_ENST00000379866.1_Silent_p.I48I|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000520772.1_Silent_p.I48I	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	48					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGATTTACATCATTACAATTG	0.264																																																	0													66	67	66					8																	39463837		2201	4285	6486	SO:0001819	synonymous_variant	0			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.144C>T	8.37:g.39463837C>T			B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	NULL	p.H60Y	ENST00000265707.5	37	c.178	CCDS6113.1	8																																																																																			ADAM18	-	NULL	ENSG00000168619		0.264	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	-	0	49	0	C	NM_014237		39463837	1	tier1	-	no_errors	ENST00000520001	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.334	T	T	39463837	C	T	39463837	2	4	162	1	0	0	0	0	0	0	0	1	239	816	29	3		3	ADAM18	8	39463837	Silent	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	14309734	39463837	106900185	60	41134											
NBN	4683	genome.wustl.edu	37	chr8	90990460	90990460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatatacctttcaatttgtGgaggctgcttcttggactca	9	16	8	8	0	3	0	2	0	1	0	3	2	3	2	1	3	2	2	1	3	4	7			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr8:90990460G>T	ENST00000265433.3	-	5	726	c.572C>A	c.(571-573)cCa>cAa	p.P191Q	NBN_ENST00000409330.1_Missense_Mutation_p.P109Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	191	Mediates interaction with SP100. {ECO:0000250}.				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)			TTCAATTTGTGGAGGCTGCTT	0.313								Homologous recombination																																									0													74	74	74					8																	90990460		2203	4300	6503	SO:0001583	missense	0			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.572C>A	8.37:g.90990460G>T	ENSP00000265433:p.Pro191Gln		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	p.P191Q	ENST00000265433.3	37	c.572	CCDS6249.1	8	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104109	0.76983	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000517772	T;T;T	0.75589	-0.38;-0.44;-0.95	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87394	0.6166	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.87567	0.2475	10	0.87932	D	0	-11.6266	20.4008	0.98991	0.0:0.0:1.0:0.0	.	191;191	A6H8Y5;O60934	.;NBN_HUMAN	Q	191;109;191;109	ENSP00000265433:P191Q;ENSP00000386924:P109Q;ENSP00000428717:P109Q	ENSP00000265433:P191Q	P	-	2	0	NBN	91059636	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.315000	0.78998	2.826000	0.97356	0.655000	0.94253	CCA	NBN	-	pirsf_Nibrin_met	ENSG00000104320		0.313	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	HGNC	protein_coding	OTTHUMT00000331583.3	-	0	54	0	G	NM_001024688		90990460	-1	tier1	-	no_errors	ENST00000265433	ensembl	human	known	74_37	missense	26.09	51	18	SNP	1.000	T	T	90990460	G	T	90990460	3	4	162	1	0	0	0	0	1	0	0	0	10229	1348	47	3	1740	3	NBN	8	90990460	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	51526623	90990460	55373562	61	41135											
MATN2	4147	genome.wustl.edu	37	chr8	99019414	99019414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccttcgtctgccagtgctCagaaggcttcctcatcaacg	7	12	8	14	2	4	1	3	0	1	1	7	1	6	1	3	1	3	2	3	1	2	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr8:99019414C>T	ENST00000520016.1	+	8	1533	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	MATN2_ENST00000521689.1_Missense_Mutation_p.S470L|MATN2_ENST00000524308.1_Missense_Mutation_p.S429L|MATN2_ENST00000254898.5_Missense_Mutation_p.S470L|MATN2_ENST00000522025.2_Missense_Mutation_p.S186L			O00339	MATN2_HUMAN	matrilin 2	470	EGF-like 6. {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)			TGCCAGTGCTCAGAAGGCTTC	0.567																																																	0													62	66	65					8																	99019414		2085	4226	6311	SO:0001583	missense	0			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.1409C>T	8.37:g.99019414C>T	ENSP00000430487:p.Ser470Leu		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.S470L	ENST00000520016.1	37	c.1409	CCDS55264.1	8	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873292	0.33069	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016;ENST00000522270	D;T;D;D;T;D	0.96300	-1.65;-0.81;-2.2;-2.19;-0.78;-3.97	5.55	5.55	0.83447	Epidermal growth factor-like (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.51477	D	0.000097	D	0.94476	0.8222	N	0.11789	0.175	0.37352	D	0.910827	P;P;P	0.52692	0.955;0.936;0.955	P;P;P	0.57720	0.792;0.614;0.826	D	0.93958	0.7238	10	0.21014	T	0.42	-9.1497	16.4252	0.83812	0.0:1.0:0.0:0.0	.	470;470;470	E9PF03;O00339-2;O00339	.;.;MATN2_HUMAN	L	470;470;429;429;186;470;174	ENSP00000429977:S470L;ENSP00000254898:S470L;ENSP00000430221:S429L;ENSP00000429010:S186L;ENSP00000430487:S470L;ENSP00000429825:S174L	ENSP00000254898:S470L	S	+	2	0	MATN2	99088590	0.974000	0.33945	0.962000	0.40283	0.987000	0.75469	2.312000	0.43726	2.612000	0.88384	0.655000	0.94253	TCA	MATN2	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000132561		0.567	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	-	0	18	0	C			99019414	1	tier1	-	no_errors	ENST00000254898	ensembl	human	known	74_37	missense	20.41	39	10	SNP	0.975	T	T	99019414	C	T	99019414	3	4	162	1	0	0	0	0	1	0	0	0	9372	838	29	3	1439	3	MATN2	8	99019414	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	8028954	99019414	47344608	62	41136											
RIMS2	9699	genome.wustl.edu	37	chr8	104898082	104898082	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaaagaactcgagaggctCagggaccaagttcttatgca	13	8	12	8	1	2	2	1	0	1	2	3	5	2	4	1	3	2	3	1	3	4	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr8:104898082C>T	ENST00000436393.2	+	2	830	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	RIMS2_ENST00000406091.3_Nonsense_Mutation_p.Q419*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.Q227*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.Q227*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	450					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)	p.Q227K(2)|p.Q197K(1)|p.Q455K(1)|p.Q419K(1)		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)			TCGAGAGGCTCAGGGACCAAG	0.478										HNSCC(12;0.0054)																																							5	Substitution - Missense(5)	kidney(5)											77	73	74					8																	104898082		1928	4139	6067	SO:0001587	stop_gained	0			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.589C>T	8.37:g.104898082C>T	ENSP00000390665:p.Gln197*		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.Q419*	ENST00000436393.2	37	c.1255		8	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617226	0.87359	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	19.7233	0.96151	0.0:1.0:0.0:0.0	.	.	.	.	X	419;450;419;450;227;227;227;227;197	.	ENSP00000262231:Q227X	Q	+	1	0	RIMS2	104967258	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.060000	0.64312	2.653000	0.90120	0.563000	0.77884	CAG	RIMS2	-	NULL	ENSG00000176406		0.478	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1		0	15	0	C	NM_001100117		104898082	1			no_errors	ENST00000406091	ensembl	human	known	74_37	nonsense	8.33	22	2	SNP	1.000	T	T	104898082	C	T	104898082	4	4	162	1	0	0	0	0	0	1	0	0	13413	827	29	3	1395	3	RIMS2	8	104898082	Nonsense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	5878668	104898082	41465940	63	41137											
ANGPT1	284	genome.wustl.edu	37	chr8	108296965	108296965	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatactgtgaataggctcGgttcccttcccagtccatta	8	13	8	12	1	1	1	1	1	0	0	5	1	4	1	3	2	1	2	3	2	4	5			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr8:108296965G>A	ENST00000520734.1	-	6	835	c.550C>T	c.(550-552)Cga>Tga	p.R184*	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Nonsense_Mutation_p.R183*			Q15389	ANGP1_HUMAN	angiopoietin 1	384					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GAATAGGCTCGGTTCCCTTCC	0.428																																																	0													150	127	135					8																	108296965		2203	4300	6503	SO:0001587	stop_gained	0			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.550C>T	8.37:g.108296965G>A	ENSP00000430750:p.Arg184*		Q5HYA0	Nonsense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.R384*	ENST00000520734.1	37	c.1150		8	.	.	.	.	.	.	.	.	.	.	G	37	6.136955	0.97315	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520734;ENST00000520052	.	.	.	5.73	3.94	0.45596	.	0.292338	0.39759	N	0.001264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	11.1259	0.48317	0.0664:0.0:0.805:0.1286	.	.	.	.	X	384;383;184;183	.	ENSP00000297450:R383X	R	-	1	2	ANGPT1	108366141	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	2.821000	0.48065	0.773000	0.33404	-0.143000	0.13931	CGA	ANGPT1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000154188		0.428	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	ANGPT1	HGNC	protein_coding	OTTHUMT00000380428.2	-	0	73	0	G	NM_001146, NM_139290		108296965	-1	tier1	-	no_errors	ENST00000517746	ensembl	human	known	74_37	nonsense	25.00	89	30	SNP	1.000	A	A	108296965	G	A	108296965	4	1	162	1	0	0	0	0	0	1	0	0	610	1124	39	1	358	1	ANGPT1	8	108296965	Nonsense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	3398883	108296965	38067057	64	41138											
ADAMTS13	11093	genome.wustl.edu	37	chr9	136321339	136321339	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctcaactgcagtgcgggTatgtctagggccatgcaagc	8	10	12	11	1	3	0	1	0	2	0	4	0	3	0	1	2	5	3	1	2	4	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr9:136321339T>C	ENST00000371929.3	+	26	4159		c.e26+2		ADAMTS13_ENST00000485925.1_Splice_Site|ADAMTS13_ENST00000371916.1_Splice_Site|ADAMTS13_ENST00000356589.2_Splice_Site|ADAMTS13_ENST00000355699.2_Splice_Site|ADAMTS13_ENST00000371910.1_Splice_Site	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13						cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCAGTGCGGGTATGTCTAGGG	0.647																																																	0													52	47	49					9																	136321339		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.3715+2T>C	9.37:g.136321339T>C			Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Splice_Site	SNP	-	e26+2	ENST00000371929.3	37	c.3715+2	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487865	0.44249	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000371910	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3297	0.55033	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTS13	135311160	1.000000	0.71417	0.815000	0.32552	0.037000	0.13140	5.538000	0.67193	1.944000	0.56390	0.459000	0.35465	.	ADAMTS13	-	-	ENSG00000160323		0.647	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1		0	33	0	T	NM_139025	Intron	136321339	1			no_errors	ENST00000371929	ensembl	human	known	74_37	splice_site	8.82	31	3	SNP	0.971	C	C	136321339	T	C	136321339	5	2	162	1	0	0	0	0	0	0	1	0	258	1652	57	4	3819	4	ADAMTS13	9	136321339	Splice_Site	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09		136321339	4892092	65	41139											
ITIH5	80760	genome.wustl.edu	37	chr10	7683899	7683899	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtcacctacatagtgaagTtggtgatgaaagctgcagct	11	11	12	7	0	1	3	1	3	0	0	1	3	1	3	1	1	4	4	1	1	4	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr10:7683899T>G	ENST00000256861.6	-	3	368	c.290A>C	c.(289-291)aAc>aCc	p.N97T	ITIH5_ENST00000397145.2_Missense_Mutation_p.N97T|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.N97T|ITIH5_ENST00000434980.1_5'Flank	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	97	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						CATAGTGAAGTTGGTGATGAA	0.502																																																	0													166	141	149					10																	7683899		2203	4300	6503	SO:0001583	missense	0					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.290A>C	10.37:g.7683899T>G	ENSP00000256861:p.Asn97Thr		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.N97T	ENST00000256861.6	37	c.290		10	.	.	.	.	.	.	.	.	.	.	T	19.03	3.746923	0.69418	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.25912	1.77;1.77;1.77	5.71	5.71	0.89125	Vault protein inter-alpha-trypsin (2);	0.169078	0.64402	D	0.000007	T	0.53706	0.1813	.	.	.	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.58685	-0.7593	9	0.87932	D	0	-51.5998	15.9699	0.80004	0.0:0.0:0.0:1.0	.	97;97	G5E9D8;Q86UX2	.;ITIH5_HUMAN	T	97	ENSP00000256861:N97T;ENSP00000380333:N97T;ENSP00000380332:N97T	ENSP00000256861:N97T	N	-	2	0	ITIH5	7723905	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	7.587000	0.82613	2.176000	0.68965	0.379000	0.24179	AAC	ITIH5	-	pfam_VIT,smart_VIT	ENSG00000123243		0.502	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	-	0	39	0	T	NM_030569		7683899	-1	tier1	-	no_errors	ENST00000256861	ensembl	human	known	74_37	missense	15.38	33	6	SNP	1.000	G	G	7683899	T	G	7683899	3	3	162	1	0	0	0	0	1	0	0	0	7934	1725	60	4	2723	4	ITIH5	10	7683899	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09		7683899	127850848	66	41140											
USP6NL	9712	genome.wustl.edu	37	chr10	11505195	11505195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagggtaaagggcatgccGggggctctgggagtaagccc	9	5	19	8	1	1	0	0	0	1	0	1	2	1	2	2	6	2	4	2	6	3	2	rs369822185		TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr10:11505195G>A	ENST00000609104.1	-	15	2126	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	USP6NL_ENST00000277575.5_Missense_Mutation_p.R595W|USP6NL_ENST00000379237.2_Missense_Mutation_p.R601W	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	578					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGGCATGCCGGGGGCTCTGG	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		17470	0		0	False		,,,				2504	0																0								G	TRP/ARG,TRP/ARG	1,3935		0,1,1967	42	45	44		1783,1732	-1.4	0	10		44	0,8306		0,0,4153	no	missense,missense	USP6NL	NM_001080491.2,NM_014688.2	101,101	0,1,6120	AA,AG,GG		0.0,0.0254,0.0082	probably-damaging,probably-damaging	595/846,578/829	11505195	1,12241	1968	4153	6121	SO:0001583	missense	0			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1732C>T	10.37:g.11505195G>A	ENSP00000476462:p.Arg578Trp		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R601W	ENST00000609104.1	37	c.1801	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553121	0.65425	2.54E-4	0.0	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.05717	3.4;3.41	5.58	-1.36	0.09085	.	0.177074	0.39909	N	0.001226	T	0.15696	0.0378	M	0.61703	1.905	0.09310	N	1	D;D	0.76494	0.999;0.999	P;D	0.65140	0.857;0.932	T	0.02378	-1.1168	10	0.72032	D	0.01	.	10.5481	0.45072	0.0:0.0638:0.5012:0.435	.	578;595	Q92738;Q92738-2	US6NL_HUMAN;.	W	578;595;578	ENSP00000277575:R595W;ENSP00000368539:R578W	ENSP00000277575:R595W	R	-	1	2	USP6NL	11545201	0.005000	0.15991	0.007000	0.13788	0.005000	0.04900	0.287000	0.18920	-0.188000	0.10499	-0.457000	0.05445	CGG	USP6NL	-	NULL	ENSG00000148429		0.577	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3		0	58	0	G	NM_014688		11505195	-1			no_errors	ENST00000379237	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.001	A	A	11505195	G	A	11505195	3	1	162	1	0	0	0	0	1	0	0	0	17136	1115	39	1	758	1	USP6NL	10	11505195	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	3821296	11505195	124029552	67	41141											
GJD4	219770	genome.wustl.edu	37	chr10	35897253	35897253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccccgggtgcacgcgccgGaggggagggggctggcagcc	4	2	21	14	4	0	0	0	0	0	0	0	2	0	2	4	7	2	3	4	7	0	0			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr10:35897253G>T	ENST00000321660.1	+	2	970	c.812G>T	c.(811-813)gGa>gTa	p.G271V	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	271			G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCACGCGCCGGAGGGGAGGGG	0.701																																																	0													8	9	9					10																	35897253		2098	4139	6237	SO:0001583	missense	0			AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"Ion channels / Gap junction proteins (connexins)"	23296	protein-coding gene	gene with protein product	"connexin 40.1"	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.812G>T	10.37:g.35897253G>T	ENSP00000315070:p.Gly271Val		Q8N2R7	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.G271V	ENST00000321660.1	37	c.812	CCDS7191.1	10	.	.	.	.	.	.	.	.	.	.	G	10.47	1.357866	0.24598	.	.	ENSG00000177291	ENST00000321660	D	0.97598	-4.45	5.34	-3.72	0.04411	.	10.820200	0.00166	N	0.000000	D	0.91764	0.7395	N	0.19112	0.55	0.09310	N	1	B	0.27625	0.183	B	0.22386	0.039	D	0.87038	0.2139	10	0.13108	T	0.6	.	9.0535	0.36392	0.2215:0.5217:0.2568:0.0	.	271	Q96KN9	CXD4_HUMAN	V	271	ENSP00000315070:G271V	ENSP00000315070:G271V	G	+	2	0	GJD4	35937259	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.414000	0.21164	-0.612000	0.05701	-0.938000	0.02693	GGA	GJD4	-	NULL	ENSG00000177291		0.701	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD4	HGNC	protein_coding	OTTHUMT00000047576.1	-	0	68	0	G	NM_153368		35897253	1	tier1	-	no_errors	ENST00000321660	ensembl	human	known	74_37	missense	5.45	104	6	SNP	0.000	T	T	35897253	G	T	35897253	3	4	162	1	0	0	0	0	1	0	0	0	6445	1174	41	3	818	3	GJD4	10	35897253	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	24392058	35897253	99637494	68	41142											
ALOX5	240	genome.wustl.edu	37	chr10	45878049	45878049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gaagtacatcacgctgaagaCgccccacggggactacatcg	12	5	11	13	4	1	2	1	1	0	1	2	4	1	3	2	2	2	2	2	2	4	2	rs551364951		TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr10:45878049C>T	ENST00000374391.2	+	2	322	c.269C>T	c.(268-270)aCg>aTg	p.T90M	ALOX5_ENST00000542434.1_Missense_Mutation_p.T90M	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	90	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	ACGCTGAAGACGCCCCACGGG	0.592													C|||	1	0.000199681	0	0	5008	,	,		20212	0		0	False		,,,				2504	0.001																0													111	82	92					10																	45878049		2203	4300	6503	SO:0001583	missense	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.269C>T	10.37:g.45878049C>T	ENSP00000363512:p.Thr90Met		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom	p.T90M	ENST00000374391.2	37	c.269	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241974	0.79912	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.64803	-0.12;-0.12	5.07	5.07	0.68467	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.100904	0.64402	D	0.000003	T	0.73869	0.3642	L	0.48986	1.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.991;0.989	T	0.73094	-0.4091	10	0.45353	T	0.12	-23.0727	15.9724	0.80031	0.0:1.0:0.0:0.0	.	90;90;90	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	M	90	ENSP00000437634:T90M;ENSP00000363512:T90M	ENSP00000363512:T90M	T	+	2	0	ALOX5	45198055	1.000000	0.71417	0.991000	0.47740	0.835000	0.47333	4.831000	0.62752	2.639000	0.89480	0.655000	0.94253	ACG	ALOX5	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom	ENSG00000012779		0.592	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1		0	33	0	C			45878049	1			no_errors	ENST00000374391	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	45878049	C	T	45878049	3	4	162	1	0	0	0	0	1	0	0	0	540	536	19	1	275	1	ALOX5	10	45878049	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	9980796	45878049	89656698	69	41143											
C10orf53	282966	genome.wustl.edu	37	chr10	50902630	50902630	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaaaggccaggatagcCgtgctgaatgcctactgatc	11	9	12	9	1	0	3	0	3	0	0	1	4	0	4	3	2	4	1	3	2	5	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr10:50902630C>A	ENST00000374111.3	+	3	276	c.264C>A	c.(262-264)gcC>gcA	p.A88A	C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000374113.3_3'UTR|C10orf53_ENST00000535836.1_Intron	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	88										endometrium(1)|lung(6)	7		all_neural(218;0.107)				CCAGGATAGCCGTGCTGAATG	0.473																																																	0													100	102	101					10																	50902630		1991	4176	6167	SO:0001819	synonymous_variant	0			BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.264C>A	10.37:g.50902630C>A			A6NI81|A6NLE0|B9ZVK6	Silent	SNP	NULL	p.A88	ENST00000374111.3	37	c.264	CCDS41521.1	10																																																																																			C10orf53	-	NULL	ENSG00000178645		0.473	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf53	HGNC	protein_coding	OTTHUMT00000048005.1		0	34	0	C	NM_182554		50902630	1			no_errors	ENST00000374111	ensembl	human	known	74_37	silent	5.68	83	5	SNP	0.032	A	A	50902630	C	A	50902630	2	1	162	1	0	0	0	0	0	0	0	1	1611	639	23	2		2	C10orf53	10	50902630	Silent	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	5024581	50902630	84632117	70	41144											
PTEN	5728	genome.wustl.edu	37	chr10	89720799	89720802	+	Frame_Shift_Del	DEL	TACT	TACT	-																															taatgacaaggaatatctagTacttactttaacaaaaaatg																								rs146650273		TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	TACT	TACT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr10:89720799_89720802delTACT	ENST00000371953.3	+	8	2307_2310	c.950_953delTACT	c.(949-954)gtacttfs	p.VL317fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	317	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.L318fs*2(19)|p.T319fs*1(12)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAATATCTAGTACTTACTTTAACA	0.333	V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|V317fs*3(SKUT1_SOFT_TISSUE)	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"	91	Deletion - Frameshift(48)|Whole gene deletion(37)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	endometrium(23)|central_nervous_system(18)|prostate(17)|breast(8)|skin(7)|ovary(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|thyroid(1)|large_intestine(1)																																								SO:0001589	frameshift_variant	0	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.950_953delTACT	10.37:g.89720803_89720806delTACT	ENSP00000361021:p.Val317fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.T319fs	ENST00000371953.3	37	c.950_953	CCDS31238.1	10																																																																																			PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1		0	79	0	TACT	NM_000314		89720802	1	tier1		no_errors	ENST00000371953	ensembl	human	known	74_37	frame_shift_del	31.88	47	22	DEL	1.000:1.000:1.000:1.000	-	-	89720802	TACT	-	89720799	7	5	162	1	0	1	0	1	0	0	0	0	12780	1638	57	0	980	0	PTEN	10	89720799	Frame_Shift_Del	DEL	TACT	TCGA-VR-A8EP-01A-31D-A403-09	38818169	89720799	45813948	71	41145											
ZNF518A	9849	genome.wustl.edu	37	chr10	97916723	97916723	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgtgaaaagtgtaagttctCcacccaggatgttggcacat	12	11	10	8	0	1	1	0	1	1	0	2	2	1	2	2	2	0	4	2	2	3	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr10:97916723C>G	ENST00000534948.1	+	0	1501							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TGTAAGTTCTCCACCCAGGAT	0.338																																																	0													168	165	166					10																	97916723		1903	4121	6024			0			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916723C>G			A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-	ENSG00000177853		0.338	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		-	0	31	0	C	NM_014803		97916723	1	tier1	-	no_errors	ENST00000478086	ensembl	human	known	74_37	rna	21.43	22	6	SNP	0.999	G	G	97916723	C	G	97916723	1	3	162	0	1	0	0	0	0	0	0	0	18010	855	30	5		5	ZNF518A	10	97916723	RNA	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	8195924	97916723	37618024	72	41146											
MUC5B	727897	genome.wustl.edu	37	chr11	1253282	1253282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttcacggccctcagcgggGtggtggaggccacgggcgca	6	5	17	13	4	2	0	2	0	0	0	2	1	2	1	2	7	1	1	2	7	0	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr11:1253282G>T	ENST00000529681.1	+	15	1793	c.1735G>T	c.(1735-1737)Gtg>Ttg	p.V579L	MUC5B_ENST00000447027.1_Missense_Mutation_p.V582L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	579	VWFD 2. {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)		CCTCAGCGGGGTGGTGGAGGC	0.662																																																	0													43	53	50					11																	1253282		2073	4201	6274	SO:0001583	missense	0			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.1735G>T	11.37:g.1253282G>T	ENSP00000436812:p.Val579Leu		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V582L	ENST00000529681.1	37	c.1744	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	6.124	0.391165	0.11581	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15952	2.38;2.56	3.77	3.77	0.43336	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.20536	0.0494	L	0.45051	1.395	0.24859	N	0.992353	B;P;P	0.42296	0.098;0.775;0.775	B;P;P	0.46758	0.08;0.526;0.526	T	0.07888	-1.0749	9	0.87932	D	0	.	8.2062	0.31456	0.1919:0.0:0.8081:0.0	.	579;1238;582	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	L	579;582;580;615	ENSP00000436812:V579L;ENSP00000415793:V582L	ENSP00000343037:V580L	V	+	1	0	MUC5B	1209858	0.092000	0.21681	0.938000	0.37757	0.233000	0.25261	0.429000	0.21412	1.636000	0.50526	0.462000	0.41574	GTG	MUC5B	-	NULL	ENSG00000117983		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	39	0	G	XM_001126093		1253282	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	53.85	12	14	SNP	0.540	T	T	1253282	G	T	1253282	3	4	162	1	0	0	0	0	1	0	0	0	10017	1261	44	3	1802	3	MUC5B	11	1253282	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09		1253282	133753234	73	41147											
OR5D13	390142	genome.wustl.edu	37	chr11	55540951	55540951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	aaatcaaagcagcacacccaCttttattctcttgggttttt	11	15	5	10	0	2	0	1	0	1	0	3	0	2	0	1	1	2	3	1	1	3	6			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr11:55540951C>A	ENST00000361760.1	+	1	38	c.38C>A	c.(37-39)aCt>aAt	p.T13N		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	13						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AGCACACCCACTTTTATTCTC	0.393																																																	0													103	105	104					11																	55540951		2200	4296	6496	SO:0001583	missense	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.38C>A	11.37:g.55540951C>A	ENSP00000354800:p.Thr13Asn		Q6IF68|Q6IFC9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T13N	ENST00000361760.1	37	c.38	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	C	6.935	0.542177	0.13250	.	.	ENSG00000198877	ENST00000361760	T	0.02916	4.11	3.52	-2.63	0.06133	.	0.906034	0.08931	U	0.873050	T	0.02848	0.0085	L	0.48218	1.51	0.09310	N	1	B	0.27316	0.175	B	0.24269	0.052	T	0.43228	-0.9404	10	0.72032	D	0.01	-2.4589	4.1196	0.10099	0.3999:0.3329:0.0:0.2672	.	13	Q8NGL4	OR5DD_HUMAN	N	13	ENSP00000354800:T13N	ENSP00000354800:T13N	T	+	2	0	OR5D13	55297527	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.018000	0.13422	-0.352000	0.08237	-0.549000	0.04216	ACT	OR5D13	-	NULL	ENSG00000198877		0.393	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	-	0	28	0	C	NM_001001967		55540951	1	tier1	-	no_errors	ENST00000361760	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.000	A	A	55540951	C	A	55540951	3	1	162	1	0	0	0	0	1	0	0	0	11193	565	20	3	40	3	OR5D13	11	55540951	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	54287669	55540951	79465565	74	41148											
SCYL1	57410	genome.wustl.edu	37	chr11	65300209	65300209	+	Missense_Mutation	SNP	A	A	T	1	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	cgagccaacagtcaacacccAgatcttcccccacgtcgtac	11	6	6	18	3	2	1	1	0	1	1	4	2	3	1	4	0	4	1	4	0	3	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr11:65300209A>T	ENST00000270176.5	+	9	1240	c.1163A>T	c.(1162-1164)cAg>cTg	p.Q388L	SCYL1_ENST00000279270.6_Missense_Mutation_p.Q388L|SCYL1_ENST00000420247.2_Missense_Mutation_p.Q388L|SCYL1_ENST00000525364.1_Missense_Mutation_p.Q388L|SCYL1_ENST00000524944.1_Missense_Mutation_p.Q388L|SCYL1_ENST00000533862.1_Missense_Mutation_p.Q388L|SCYL1_ENST00000527009.1_Missense_Mutation_p.Q245L	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	388					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GTCAACACCCAGATCTTCCCC	0.602																																																	0													114	130	125					11																	65300209		2162	4249	6411	SO:0001583	missense	0			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1163A>T	11.37:g.65300209A>T	ENSP00000270176:p.Gln388Leu		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.Q388L	ENST00000270176.5	37	c.1163	CCDS41672.1	11	.	.	.	.	.	.	.	.	.	.	A	18.70	3.681087	0.68042	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35	4.18	4.18	0.49190	Armadillo-like helical (1);Armadillo-type fold (1);	0.200358	0.44285	D	0.000474	T	0.27063	0.0663	M	0.82517	2.595	0.80722	D	1	B;P;P;B;B	0.40553	0.241;0.721;0.534;0.228;0.446	B;B;B;B;B	0.41571	0.104;0.36;0.283;0.211;0.197	T	0.13361	-1.0512	10	0.72032	D	0.01	-11.8788	11.4726	0.50278	1.0:0.0:0.0:0.0	.	388;388;388;388;388	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	L	388;388;388;388;388;388;388;388;245	ENSP00000270176:Q388L;ENSP00000431635:Q388L;ENSP00000408192:Q388L;ENSP00000437254:Q388L;ENSP00000433450:Q388L;ENSP00000279270:Q388L;ENSP00000432175:Q388L;ENSP00000436993:Q245L	ENSP00000270176:Q388L	Q	+	2	0	SCYL1	65056785	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.320000	0.72876	1.684000	0.51022	0.379000	0.24179	CAG	SCYL1	-	superfamily_ARM-type_fold	ENSG00000142186		0.602	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL1	HGNC	protein_coding	OTTHUMT00000389159.2	-	0	35	0	A	NM_020680		65300209	1	tier1	-	no_errors	ENST00000270176	ensembl	human	known	74_37	missense	15.22	39	7	SNP	1.000	T	T	65300209	A	T	65300209	3	4	162	1	0	0	0	0	1	0	0	0	13992	188	7	5	1197	5	SCYL1	11	65300209	Missense_Mutation	SNP	A	TCGA-VR-A8EP-01A-31D-A403-09	9759258	65300209	69706307	75	41149											
TRIM49	57093	genome.wustl.edu	37	chr11	89537421	89537423	+	In_Frame_Del	DEL	TCT	TCT	-																															ttttctggcaagagaagccaTcttcttcaaatgaatgttgg																										TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr11:89537421_89537423delTCT	ENST00000329758.1	-	3	543_545	c.215_217delAGA	c.(214-219)aagatg>atg	p.K72del	TRIM49_ENST00000532501.2_In_Frame_Del_p.K72del	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	72						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)				AGAGAAGCCATCTTCTTCAAATG	0.443																																																	0																																										SO:0001651	inframe_deletion	0			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.215_217delAGA	11.37:g.89537424_89537426delTCT	ENSP00000327604:p.Lys72del		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	In_Frame_Del	DEL	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.K72in_frame_del	ENST00000329758.1	37	c.217_215	CCDS8287.1	11																																																																																			TRIM49	-	NULL	ENSG00000168930		0.443	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1		0	76	0	TCT	NM_020358		89537423	-1	tier1		no_errors	ENST00000329758	ensembl	human	known	74_37	in_frame_del	26.21	76	27	DEL	0.000:0.000:0.001	-	-	89537423	TCT	-	89537421	7	5	162	1	0	1	0	1	0	0	0	0	16572	1435	50	0	1165	0	TRIM49	11	89537421	In_Frame_Del	DEL	TCT	TCGA-VR-A8EP-01A-31D-A403-09	24237212	89537421	45469095	76	41150											
TSPAN9	10867	genome.wustl.edu	37	chr12	3387724	3387724	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccattgtcatggtgacGggcttcctcggctgcctggg	4	10	15	12	2	1	1	1	1	0	0	3	1	2	1	3	5	1	3	3	5	0	2	rs147946820		TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr12:3387724G>A	ENST00000011898.5	+	4	362	c.201G>A	c.(199-201)acG>acA	p.T67T	TSPAN9_ENST00000407263.1_Silent_p.T67T|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Silent_p.T67T	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	67						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TCATGGTGACGGGCTTCCTCG	0.572																																																	0								G	,	0,4406		0,0,2203	124	112	116		201,201	-5.4	1	12	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TSPAN9	NM_001168320.1,NM_006675.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	67/240,67/240	3387724	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.201G>A	12.37:g.3387724G>A			D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.T67	ENST00000011898.5	37	c.201	CCDS8520.1	12																																																																																			TSPAN9	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000011105		0.572	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN9	HGNC	protein_coding	OTTHUMT00000317606.2		0	25	0	G	NM_006675		3387724	1			no_errors	ENST00000011898	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.770	A	A	3387724	G	A	3387724	2	1	162	1	0	0	0	0	0	0	0	1	16702	1103	39	1		1	TSPAN9	12	3387724	Silent	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09		3387724	130464171	77	41151											
EFCAB4B	84766	genome.wustl.edu	37	chr12	3788201	3788201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gatacaccttctcttcatggCgctgggccacctgttcacct	6	12	8	15	1	3	0	2	0	1	0	4	1	3	0	4	2	1	2	4	2	1	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr12:3788201C>T	ENST00000252322.1	-	6	872	c.404G>A	c.(403-405)cGc>cAc	p.R135H	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.R135H|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.R135H	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		135					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)			CTCTTCATGGCGCTGGGCCAC	0.552																																																	0													176	143	154					12																	3788201		2203	4300	6503	SO:0001583	missense	0																														ENST00000252322.1:c.404G>A	12.37:g.3788201C>T	ENSP00000252322:p.Arg135His		B4E1X0|B9EK63	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.R135H	ENST00000252322.1	37	c.404	CCDS8522.1	12	.	.	.	.	.	.	.	.	.	.	C	3.826	-0.036680	0.07497	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.61859	0.07;2.52;2.54	4.9	-3.96	0.04106	EF-hand-like domain (1);	0.683858	0.14371	N	0.323805	T	0.27594	0.0678	N	0.11255	0.115	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	0.06232	-1.0838	10	0.44086	T	0.13	-1.3352	2.5154	0.04667	0.3607:0.147:0.3734:0.1189	.	135;135;135	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	H	135	ENSP00000409382:R135H;ENSP00000412496:R135H;ENSP00000252322:R135H	ENSP00000252322:R135H	R	-	2	0	EFCAB4B	3658462	0.042000	0.20092	0.001000	0.08648	0.013000	0.08279	0.399000	0.20916	-0.668000	0.05296	-0.254000	0.11334	CGC	EFCAB4B	-	NULL	ENSG00000130038		0.552	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398673.1		0	37	0	C			3788201	-1			no_errors	ENST00000440314	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.000	T	T	3788201	C	T	3788201	3	4	162	1	0	0	0	0	1	0	0	0	4951	768	27	1	2043	1	EFCAB4B	12	3788201	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	400477	3788201	130063694	78	41152											
C3AR1	719	genome.wustl.edu	37	chr12	8212673	8212673	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccattgcctggcaatcCcagtaaaaaagtaaggctga	14	7	9	11	0	0	1	0	1	0	0	1	1	1	1	3	2	2	4	3	2	5	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr12:8212673C>A	ENST00000307637.4	-	2	312	c.109G>T	c.(109-111)Gga>Tga	p.G37*		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	37					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)		CCTGGCAATCCCAGTAAAAAA	0.522																																																	0													73	74	73					12																	8212673		2203	4300	6503	SO:0001587	stop_gained	0			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.109G>T	12.37:g.8212673C>A	ENSP00000302079:p.Gly37*		O43771|Q92868	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2	p.G37*	ENST00000307637.4	37	c.109	CCDS8588.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.280825	0.97440	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	.	.	.	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.2652	0.87085	0.0:1.0:0.0:0.0	.	.	.	.	X	37	.	ENSP00000302079:G37X	G	-	1	0	C3AR1	8103940	1.000000	0.71417	0.913000	0.36048	0.882000	0.50991	7.747000	0.85070	2.672000	0.90937	0.484000	0.47621	GGA	C3AR1	-	prints_GPCR_Rhodpsn	ENSG00000171860		0.522	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3AR1	HGNC	protein_coding	OTTHUMT00000400254.1		0	32	0	C			8212673	-1			no_errors	ENST00000307637	ensembl	human	known	74_37	nonsense	6.45	28	2	SNP	1.000	A	A	8212673	C	A	8212673	4	1	162	1	0	0	0	0	0	1	0	0	2212	632	22	3	1343	3	C3AR1	12	8212673	Nonsense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	4424472	8212673	125639222	79	41153											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43819395	43819395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtattacgctaggtggcttGtttacaatttcacagttgtg	8	17	10	6	1	1	0	1	0	0	0	1	0	1	0	0	2	2	5	0	2	5	8			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr12:43819395G>T	ENST00000389420.3	-	28	4205	c.4206C>A	c.(4204-4206)aaC>aaA	p.N1402K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N1402K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.N520K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1402	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAGGTGGCTTGTTTACAATTT	0.408																																																	0													200	156	171					12																	43819395		2203	4300	6503	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4206C>A	12.37:g.43819395G>T	ENSP00000374071:p.Asn1402Lys		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.N1402K	ENST00000389420.3	37	c.4206	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	G	6.208	0.406496	0.11754	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.60171	0.33;0.23;0.23;0.21	4.71	2.85	0.33270	.	0.538062	0.16638	N	0.205759	T	0.33177	0.0854	N	0.17800	0.525	0.27862	N	0.940379	B;B	0.32862	0.033;0.387	B;B	0.36030	0.145;0.216	T	0.28138	-1.0053	10	0.06365	T	0.9	.	3.0537	0.06177	0.1479:0.1499:0.5478:0.1545	.	1402;520	P59510;E9PBD5	ATS20_HUMAN;.	K	1402;532;520;1402;1402	ENSP00000374071:N1402K;ENSP00000447427:N532K;ENSP00000378911:N520K;ENSP00000448341:N1402K	ENSP00000374068:N1402K	N	-	3	2	ADAMTS20	42105662	1.000000	0.71417	0.954000	0.39281	0.777000	0.43975	1.449000	0.35123	1.266000	0.44231	0.650000	0.86243	AAC	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000173157		0.408	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	-	0	40	0	G	NM_025003		43819395	-1	tier1	-	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	43819395	G	T	43819395	3	4	162	1	0	0	0	0	1	0	0	0	266	1368	48	3	1573	3	ADAMTS20	12	43819395	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	35606722	43819395	90032500	80	41154											
SCN8A	6334	genome.wustl.edu	37	chr12	52200368	52200368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcatgatctgcctgtttCaaatcacaacctcagctggt	11	11	7	12	0	4	1	3	1	1	0	4	1	4	1	2	1	4	3	2	1	2	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr12:52200368C>G	ENST00000354534.6	+	27	5276	c.5098C>G	c.(5098-5100)Caa>Gaa	p.Q1700E	SCN8A_ENST00000545061.1_Missense_Mutation_p.Q1659E	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1700					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)	CTGCCTGTTTCAAATCACAAC	0.493																																																	0													103	104	103					12																	52200368		2203	4300	6503	SO:0001583	missense	0			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.5098C>G	12.37:g.52200368C>G	ENSP00000346534:p.Gln1700Glu		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.Q1700E	ENST00000354534.6	37	c.5098	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	C	9.971	1.225418	0.22457	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.97529	-4.42;-4.42	5.31	5.31	0.75309	Ion transport (1);	0.090446	0.85682	D	0.000000	D	0.97219	0.9091	L	0.55213	1.73	0.48452	D	0.999651	P	0.51351	0.944	P	0.53224	0.721	D	0.97365	0.9972	10	0.66056	D	0.02	.	19.5591	0.95366	0.0:1.0:0.0:0.0	.	1700	Q9UQD0	SCN8A_HUMAN	E	1700;1659	ENSP00000346534:Q1700E;ENSP00000440360:Q1659E	ENSP00000346534:Q1700E	Q	+	1	0	SCN8A	50486635	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.844000	0.69430	2.937000	0.99478	0.650000	0.86243	CAA	SCN8A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000196876		0.493	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0	47	0	C	NM_014191		52200368	1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	G	G	52200368	C	G	52200368	3	3	162	1	0	0	0	0	1	0	0	0	13969	827	29	5	5200	5	SCN8A	12	52200368	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	8380973	52200368	81651527	81	41155											
HELB	92797	genome.wustl.edu	37	chr12	66703557	66703557	+	Silent	SNP	T	T	G	0	1	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	ttttgtcagtgtgagtctctTctccagctgatgactgattt	6	18	9	8	0	3	4	1	4	2	0	5	4	3	4	1	0	1	1	1	0	0	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr12:66703557T>G	ENST00000247815.4	+	4	908	c.849T>G	c.(847-849)ctT>ctG	p.L283L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	283					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTGAGTCTCTTCTCCAGCTGA	0.393																																																	0													162	160	161					12																	66703557		2203	4300	6503	SO:0001819	synonymous_variant	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.849T>G	12.37:g.66703557T>G			A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	superfamily_P-loop_NTPase	p.L283	ENST00000247815.4	37	c.849	CCDS8976.1	12																																																																																			HELB	-	NULL	ENSG00000127311		0.393	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	-	0	52	0	T			66703557	1	tier1	-	no_errors	ENST00000247815	ensembl	human	known	74_37	silent	33.33	54	27	SNP	0.013	G	G	66703557	T	G	66703557	2	3	162	1	0	0	0	0	0	0	0	1	7072	1770	62	4		4	HELB	12	66703557	Silent	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	14503189	66703557	67148338	82	41156											
CAPS2	84698	genome.wustl.edu	37	chr12	75710093	75710093	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatgctgacaacttactGcatccaattttcttgccctc	12	13	4	12	0	1	1	0	1	1	0	3	1	2	1	2	0	5	2	2	0	5	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr12:75710093G>A	ENST00000409445.3	-	7	843	c.647C>T	c.(646-648)gCa>gTa	p.A216V	CAPS2_ENST00000409799.1_Splice_Site_p.A166V|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000393284.3_5'UTR	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	216							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ACAACTTACTGCATCCAATTT	0.358																																																	0													271	213	230					12																	75710093		692	1591	2283	SO:0001630	splice_region_variant	0			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.648+1C>T	12.37:g.75710093G>A			Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.A216V	ENST00000409445.3	37	c.647	CCDS9008.2	12	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801070	0.50315	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000552497;ENST00000436898	D;D;D;T	0.83755	-1.76;-1.76;-1.76;0.23	5.75	4.85	0.62838	.	0.094666	0.46442	N	0.000282	T	0.79112	0.4391	L	0.52364	1.645	0.80722	D	1	D;P	0.53745	0.962;0.874	B;B	0.43225	0.412;0.223	T	0.77840	-0.2438	10	0.34782	T	0.22	-1.8311	12.8323	0.57752	0.0809:0.0:0.9191:0.0	.	216;166	Q9BXY5;B9A061	CAYP2_HUMAN;.	V	166;216;111;110	ENSP00000386977:A166V;ENSP00000386959:A216V;ENSP00000449797:A111V;ENSP00000411797:A110V	ENSP00000338474:A111V	A	-	2	0	CAPS2	73996360	0.905000	0.30787	0.870000	0.34147	0.822000	0.46500	2.285000	0.43487	1.419000	0.47118	0.655000	0.94253	GCA	CAPS2	-	NULL	ENSG00000180881		0.358	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	HGNC	protein_coding	OTTHUMT00000327880.2	-	0	68	0	G		Missense_Mutation	75710093	-1	tier1	-	no_errors	ENST00000409445	ensembl	human	known	74_37	missense	24.24	50	16	SNP	0.957	A	A	75710093	G	A	75710093	5	1	162	1	0	0	0	0	0	0	1	0	2645	1333	46	3	1074	3	CAPS2	12	75710093	Splice_Site	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	9006536	75710093	58141802	83	41157											
NAV3	89795	genome.wustl.edu	37	chr12	78513439	78513439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcctggccgaggaggcCacagatccagtaccagcagt	10	6	12	13	1	0	1	0	0	0	1	2	3	2	2	5	3	2	3	5	3	1	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr12:78513439C>G	ENST00000397909.2	+	15	3636	c.3463C>G	c.(3463-3465)Cac>Gac	p.H1155D	NAV3_ENST00000266692.7_Missense_Mutation_p.H1155D|NAV3_ENST00000536525.2_Missense_Mutation_p.H1155D|NAV3_ENST00000228327.6_Missense_Mutation_p.H1155D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1155	Ser-rich.					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						CCGAGGAGGCCACAGATCCAG	0.532										HNSCC(70;0.22)																																							0													71	73	72					12																	78513439		1991	4167	6158	SO:0001583	missense	0			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.3463C>G	12.37:g.78513439C>G	ENSP00000381007:p.His1155Asp		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.H1155D	ENST00000397909.2	37	c.3463		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.162403|4.162403	0.78226|0.78226	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000552895	T;T;T;T|.	0.28454|.	1.61;1.61;1.61;1.61|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.42420|.	U|.	0.000707|.	T|T	0.71221|0.71221	0.3314|0.3314	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.89917|.	0.877;1.0;1.0;0.991|.	B;D;D;P|.	0.85130|.	0.358;0.997;0.996;0.889|.	T|T	0.66236|0.66236	-0.5974|-0.5974	10|5	0.42905|.	T|.	0.14|.	-16.6887|-16.6887	19.949|19.949	0.97192|0.97192	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1155;1155;1155;1155|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	D|R	1155|226	ENSP00000446132:H1155D;ENSP00000381007:H1155D;ENSP00000228327:H1155D;ENSP00000266692:H1155D|.	ENSP00000228327:H1155D|.	H|P	+|+	1|2	0|0	NAV3|NAV3	77037570|77037570	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.903000|0.903000	0.53119|0.53119	5.510000|5.510000	0.67018|0.67018	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	CAC|CCA	NAV3	-	NULL	ENSG00000067798		0.532	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	40	0	C	NM_001024383		78513439	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	19.23	42	10	SNP	1.000	G	G	78513439	C	G	78513439	3	3	162	1	0	0	0	0	1	0	0	0	10223	594	21	5	3521	5	NAV3	12	78513439	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	2803346	78513439	55338456	84	41158											
APAF1	317	genome.wustl.edu	37	chr12	99053025	99053025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcagaatctttgcacacGgttggatcaggatgagagtt	11	11	12	7	1	2	2	1	1	1	2	2	5	2	4	0	3	2	4	0	3	1	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr12:99053025G>A	ENST00000551964.1	+	5	1350	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	APAF1_ENST00000359972.2_Missense_Mutation_p.R194Q|APAF1_ENST00000357310.1_Missense_Mutation_p.R205Q|APAF1_ENST00000547045.1_Missense_Mutation_p.R205Q|APAF1_ENST00000549007.1_Missense_Mutation_p.R205Q|APAF1_ENST00000339433.3_Missense_Mutation_p.R205Q|APAF1_ENST00000552268.1_Missense_Mutation_p.R205Q|APAF1_ENST00000333991.1_Missense_Mutation_p.R205Q|APAF1_ENST00000550527.1_Missense_Mutation_p.R194Q	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	205	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTTTGCACACGGTTGGATCAG	0.473																																																	0													134	134	134					12																	99053025		2203	4300	6503	SO:0001583	missense	0			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.614G>A	12.37:g.99053025G>A	ENSP00000448165:p.Arg205Gln		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.R205Q	ENST00000551964.1	37	c.614	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.423705	0.96111	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;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;-1.09	5.53	5.53	0.82687	NB-ARC (1);	0.111024	0.64402	D	0.000008	D	0.85309	0.5667	L	0.60957	1.885	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.996;1.0;0.998;0.996;0.959	T	0.79860	-0.1625	10	0.11794	T	0.64	-0.3734	19.4752	0.94985	0.0:0.0:1.0:0.0	.	205;205;194;205;194	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	Q	205;194;205;205;205;205;194;205;205	ENSP00000448165:R205Q;ENSP00000353059:R194Q;ENSP00000349862:R205Q;ENSP00000341830:R205Q;ENSP00000334558:R205Q;ENSP00000448826:R205Q;ENSP00000448449:R194Q;ENSP00000449791:R205Q;ENSP00000448161:R205Q	ENSP00000334558:R205Q	R	+	2	0	APAF1	97577156	1.000000	0.71417	0.718000	0.30602	0.985000	0.73830	8.933000	0.92911	2.610000	0.88304	0.650000	0.86243	CGG	APAF1	-	pfam_NB-ARC,superfamily_P-loop_NTPase,pirsf_Apoptotic_pept-activating_1	ENSG00000120868		0.473	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	-	0	46	0	G	NM_181861.1		99053025	1	tier1	-	no_errors	ENST00000551964	ensembl	human	known	74_37	missense	17.35	81	17	SNP	0.997	A	A	99053025	G	A	99053025	3	1	162	1	0	0	0	0	1	0	0	0	755	1116	39	1	628	1	APAF1	12	99053025	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	20539586	99053025	34798870	85	41159											
C12orf48	55010	genome.wustl.edu	37	chr12	102558365	102558365	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaacatgctgctcgagaGaaacaaatgtctatcttttt	13	14	7	7	1	2	2	0	1	2	1	3	4	2	2	0	0	4	2	0	0	4	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr12:102558365G>A	ENST00000358383.5	+	5	690	c.645G>A	c.(643-645)gaG>gaA	p.E215E	PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000543784.1_Silent_p.E101E|PARPBP_ENST00000327680.2_Silent_p.E134E|PARPBP_ENST00000541394.1_Silent_p.E292E|PARPBP_ENST00000392911.2_Silent_p.E134E|PARPBP_ENST00000378128.3_Silent_p.E215E			Q9NWS1	PARI_HUMAN	PARP1 binding protein	215					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						CTGCTCGAGAGAAACAAATGT	0.383																																																	0													148	158	155					12																	102558365		2203	4300	6503	SO:0001819	synonymous_variant	0			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.645G>A	12.37:g.102558365G>A			B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Silent	SNP	superfamily_P-loop_NTPase	p.E215	ENST00000358383.5	37	c.645	CCDS9090.2	12																																																																																			PARPBP	-	superfamily_P-loop_NTPase	ENSG00000185480		0.383	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARPBP	HGNC	protein_coding	OTTHUMT00000397030.2	-	0	80	0	G	NM_017915		102558365	1	tier1	-	no_errors	ENST00000358383	ensembl	human	known	74_37	silent	30.00	77	33	SNP	1.000	A	A	102558365	G	A	102558365	2	1	162	1	0	0	0	0	0	0	0	1	1697	933	33	3		3	C12orf48	12	102558365	Silent	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	3505340	102558365	31293530	86	41160											
NAA25	80018	genome.wustl.edu	37	chr12	112478314	112478314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaactagattttctaaaaGagtaggatgtgttttcaagt	15	14	9	3	0	2	2	1	0	1	2	2	4	2	3	0	1	1	2	0	1	7	7			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr12:112478314G>C	ENST00000261745.4	-	21	2757	c.2509C>G	c.(2509-2511)Ctt>Gtt	p.L837V	MIR3657_ENST00000584818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	837						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTTTCTAAAAGAGTAGGATGT	0.303																																																	0													75	75	75					12																	112478314		2202	4295	6497	SO:0001583	missense	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2509C>G	12.37:g.112478314G>C	ENSP00000261745:p.Leu837Val		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.L837V	ENST00000261745.4	37	c.2509	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	G	8.710	0.911823	0.17907	.	.	ENSG00000111300	ENST00000261745;ENST00000550701	T	0.20598	2.06	5.53	3.49	0.39957	.	0.409426	0.24669	N	0.036566	T	0.09468	0.0233	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.35101	-0.9802	10	0.02654	T	1	-5.5938	9.1544	0.36983	0.0:0.217:0.5587:0.2243	.	837;837	A8K8X0;Q14CX7	.;NAA25_HUMAN	V	837;43	ENSP00000261745:L837V	ENSP00000261745:L837V	L	-	1	0	NAA25	110962697	0.831000	0.29352	0.942000	0.38095	0.999000	0.98932	1.262000	0.32992	1.294000	0.44707	0.655000	0.94253	CTT	NAA25	-	NULL	ENSG00000111300		0.303	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	-	0	92	0	G	NM_024953		112478314	-1	tier1	-	no_errors	ENST00000261745	ensembl	human	known	74_37	missense	24.47	71	23	SNP	0.071	C	C	112478314	G	C	112478314	3	2	162	1	0	0	0	0	1	0	0	0	10159	942	33	5	425	5	NAA25	12	112478314	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	9919949	112478314	21373581	87	41161											
RIMBP2	23504	genome.wustl.edu	37	chr12	130921701	130921701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaggagctcggggggaaCggcagcaactgcagagtcca	11	3	15	12	2	0	1	0	0	0	1	2	3	1	3	2	5	5	4	2	5	2	0	rs139344487		TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr12:130921701C>T	ENST00000261655.4	-	10	1904	c.1741G>A	c.(1741-1743)Gtt>Att	p.V581I	RIMBP2_ENST00000536002.1_Missense_Mutation_p.V489I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.V489I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	581	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.V581I(1)		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)		TCGGGGGGAACGGCAGCAACT	0.662													C|||	1	0.000199681	0	0.0014	5008	,	,		12608	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	central_nervous_system(1)						C	ILE/VAL	0,4396		0,0,2198	32	27	29		1741	-0.4	0.4	12	dbSNP_134	29	12,8580		0,12,4284	yes	missense	RIMBP2	NM_015347.4	29	0,12,6482	TT,TC,CC		0.1397,0.0,0.0924	benign	581/1053	130921701	12,12976	2198	4296	6494	SO:0001583	missense	0			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.1741G>A	12.37:g.130921701C>T	ENSP00000261655:p.Val581Ile		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.V581I	ENST00000261655.4	37	c.1741	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.791940	0.00623	0.0	0.001397	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.30981	1.51;1.51;1.51	4.63	-0.405	0.12392	Fibronectin, type III (2);	0.055124	0.64402	N	0.000001	T	0.05090	0.0136	N	0.00224	-1.81	0.21878	N	0.999499	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.41980	-0.9478	10	0.02654	T	1	-12.8031	8.6509	0.34033	0.0:0.288:0.0:0.712	.	489;489;581	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	I	581;489;489;489	ENSP00000261655:V581I;ENSP00000440347:V489I;ENSP00000439159:V489I	ENSP00000261655:V581I	V	-	1	0	RIMBP2	129487654	1.000000	0.71417	0.405000	0.26409	0.009000	0.06853	1.767000	0.38501	-0.353000	0.08224	-0.367000	0.07326	GTT	RIMBP2	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000060709		0.662	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0	21	0	C	NM_015347		130921701	-1	tier1	rs139344487	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.959	T	T	130921701	C	T	130921701	3	4	162	1	0	0	0	0	1	0	0	0	13408	536	19	1	1457	1	RIMBP2	12	130921701	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	18443387	130921701	2930194	88	41162											
TUBA3C	7278	genome.wustl.edu	37	chr13	19751582	19751582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggagttgtagggctccaccaCggccgtggagacctgggggg	6	6	19	10	2	0	1	0	0	0	1	1	3	1	2	4	7	0	3	4	7	1	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr13:19751582C>T	ENST00000400113.3	-	4	645	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	181					'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)		GGCTCCACCACGGCCGTGGAG	0.547																																																	0													153	155	154					13																	19751582		2203	4300	6503	SO:0001583	missense	0			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.541G>A	13.37:g.19751582C>T	ENSP00000382982:p.Val181Met		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.V181M	ENST00000400113.3	37	c.541	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	c	9.281	1.048161	0.19827	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.71222	-0.55	1.19	0.277	0.15668	.	0.000000	0.42294	U	0.000740	T	0.70316	0.3210	.	.	.	0.36377	D	0.861662	.	.	.	.	.	.	T	0.71148	-0.4677	7	0.87932	D	0	.	5.6682	0.17707	0.0:0.7911:0.0:0.2089	.	.	.	.	M	181	ENSP00000382982:V181M	ENSP00000354037:V181M	V	-	1	0	TUBA3C	18649582	0.999000	0.42202	0.988000	0.46212	0.511000	0.34104	4.622000	0.61240	0.069000	0.16605	0.162000	0.16502	GTG	TUBA3C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000198033		0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0	54	0	C	NM_006001		19751582	-1	tier1	-	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	T	T	19751582	C	T	19751582	3	4	162	1	0	0	0	0	1	0	0	0	16795	536	19	1	819	1	TUBA3C	13	19751582	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09		19751582	95418296	89	41163											
MIPEP	4285	genome.wustl.edu	37	chr13	24383997	24383997	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacatacatacctgaagttGcatatcagctgcagcacaaa	15	9	7	10	0	1	1	1	1	0	0	1	1	1	1	1	0	7	6	1	0	6	5			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr13:24383997G>A	ENST00000382172.3	-	15	1818	c.1720C>T	c.(1720-1722)Caa>Taa	p.Q574*		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	574					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ACCTGAAGTTGCATATCAGCT	0.323																																																	0													105	108	107					13																	24383997		2203	4300	6503	SO:0001587	stop_gained	0				CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1720C>T	13.37:g.24383997G>A	ENSP00000371607:p.Gln574*		Q5JV15|Q5T9Q9|Q96G65	Nonsense_Mutation	SNP	pfam_Pept_M3A_M3B	p.Q574*	ENST00000382172.3	37	c.1720	CCDS9303.1	13	.	.	.	.	.	.	.	.	.	.	G	40	7.983062	0.98594	.	.	ENSG00000027001	ENST00000382172	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5376	0.87837	0.0:0.0:1.0:0.0	.	.	.	.	X	574	.	ENSP00000371607:Q574X	Q	-	1	0	MIPEP	23281997	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	5.943000	0.70211	2.882000	0.98803	0.655000	0.94253	CAA	MIPEP	-	pfam_Pept_M3A_M3B	ENSG00000027001		0.323	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIPEP	HGNC	protein_coding	OTTHUMT00000044169.1	-	0	51	0	G			24383997	-1	tier1	-	no_errors	ENST00000382172	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	1.000	A	A	24383997	G	A	24383997	4	1	162	1	0	0	0	0	0	1	0	0	9630	1328	46	3	441	3	MIPEP	13	24383997	Nonsense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	4632415	24383997	90785881	90	41164											
RB1	5925	genome.wustl.edu	37	chr13	48947603	48947603	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagcaagtgatcaaccttCagaaaatctgatttcctatt	13	14	5	9	0	4	3	3	2	1	1	5	3	5	3	2	0	2	1	2	0	5	5			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr13:48947603C>G	ENST00000267163.4	+	12	1328	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	397	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.S397fs*1(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)"	GATCAACCTTCAGAAAATCTG	0.289		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	25	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(2)	bone(11)|breast(5)|central_nervous_system(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CM961227	RB1	M							100	107	105					13																	48947603		2203	4289	6492	SO:0001587	stop_gained	0	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.1190C>G	13.37:g.48947603C>G	ENSP00000267163:p.Ser397*		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.S397*	ENST00000267163.4	37	c.1190	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	38	6.895619	0.97916	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4822	0.95014	0.0:1.0:0.0:0.0	.	.	.	.	X	376;397	.	ENSP00000267163:S397X	S	+	2	0	RB1	47845604	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.779000	0.68948	2.612000	0.88384	0.563000	0.77884	TCA	RB1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000139687		0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	-	0	36	0	C			48947603	1	tier1	-	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	37.50	30	18	SNP	1.000	G	G	48947603	C	G	48947603	4	3	162	1	0	0	0	0	0	1	0	0	13143	838	29	5	1236	5	RB1	13	48947603	Nonsense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	24563606	48947603	66222275	91	41165											
TRIM13	10206	genome.wustl.edu	37	chr13	50586798	50586798	+	Missense_Mutation	SNP	A	A	T	1	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	cattgctgaggctttcaaagAtgtgtcagaacccattgtat	11	13	9	8	0	2	3	2	1	0	2	2	3	2	3	1	1	2	3	1	1	3	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr13:50586798A>T	ENST00000378182.3	+	2	1460	c.722A>T	c.(721-723)gAt>gTt	p.D241V	TRIM13_ENST00000420995.2_Missense_Mutation_p.D241V|TRIM13_ENST00000356017.4_Missense_Mutation_p.D244V|TRIM13_ENST00000298772.5_Missense_Mutation_p.D244V|TRIM13_ENST00000457662.2_Missense_Mutation_p.D241V|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000312942.1_5'Flank|KCNRG_ENST00000360473.4_5'Flank	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	241					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		GCTTTCAAAGATGTGTCAGAA	0.418																																																	0													79	75	76					13																	50586798		2203	4300	6503	SO:0001583	missense	0			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9976	protein-coding gene	gene with protein product		605661	"ret finger protein 2", "tripartite motif-containing 13"	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.722A>T	13.37:g.50586798A>T	ENSP00000367424:p.Asp241Val		B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.D244V	ENST00000378182.3	37	c.731	CCDS9423.1	13	.	.	.	.	.	.	.	.	.	.	A	12.93	2.084401	0.36758	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T	0.27104	2.2;1.69;1.69;2.21;1.69;2.21	5.61	5.61	0.85477	.	0.286266	0.39083	N	0.001476	T	0.28001	0.0690	N	0.24115	0.695	0.53005	D	0.999962	D;D	0.59357	0.974;0.985	P;P	0.52217	0.497;0.693	T	0.02161	-1.1203	9	.	.	.	-6.2974	15.7868	0.78310	1.0:0.0:0.0:0.0	.	241;244	O60858;O60858-3	TRI13_HUMAN;.	V	241;241;241;244;241;244	ENSP00000367425:D241V;ENSP00000412943:D241V;ENSP00000367424:D241V;ENSP00000348299:D244V;ENSP00000399206:D241V;ENSP00000298772:D244V	.	D	+	2	0	TRIM13	49484799	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.399000	0.66314	2.119000	0.64992	0.533000	0.62120	GAT	TRIM13	-	NULL	ENSG00000204977		0.418	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TRIM13	HGNC	protein_coding	OTTHUMT00000354875.1		0	28	0	A	NM_001007278		50586798	1			no_errors	ENST00000298772	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	50586798	A	T	50586798	3	4	162	1	0	0	0	0	1	0	0	0	16536	333	12	5	737	5	TRIM13	13	50586798	Missense_Mutation	SNP	A	TCGA-VR-A8EP-01A-31D-A403-09	1639195	50586798	64583080	92	41166											
GOLGA5	9950	genome.wustl.edu	37	chr14	93299494	93299494	+	Missense_Mutation	SNP	A	A	T	1	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	ataaaactttaagcaatagcAgtcagtctgagttagaaaat	18	11	7	5	0	2	2	1	1	1	1	2	2	2	2	0	0	3	3	0	0	8	5			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr14:93299494A>T	ENST00000163416.2	+	10	2003	c.1747A>T	c.(1747-1749)Agt>Tgt	p.S583C	GOLGA5_ENST00000355976.2_Missense_Mutation_p.S583C	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	583					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)		AAGCAATAGCAGTCAGTCTGA	0.378			T	RET	papillary thyroid																																			Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	0													84	87	86					14																	93299494		2203	4300	6503	SO:0001583	missense	0			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.1747A>T	14.37:g.93299494A>T	ENSP00000163416:p.Ser583Cys		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin	p.S583C	ENST00000163416.2	37	c.1747	CCDS9905.1	14	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289972	0.80914	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.52983	0.64;0.64	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000033	T	0.68421	0.2999	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71642	-0.4531	10	0.66056	D	0.02	-15.7776	15.8997	0.79362	1.0:0.0:0.0:0.0	.	583	Q8TBA6	GOGA5_HUMAN	C	583;583;492	ENSP00000163416:S583C;ENSP00000348252:S583C	ENSP00000163416:S583C	S	+	1	0	GOLGA5	92369247	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.470000	0.80973	2.157000	0.67596	0.482000	0.46254	AGT	GOLGA5	-	pfam_Golgin_subfamily_A_member_5	ENSG00000066455		0.378	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA5	HGNC	protein_coding	OTTHUMT00000412365.1	-	0	57	0	A			93299494	1	tier1	-	no_errors	ENST00000163416	ensembl	human	known	74_37	missense	51.85	39	42	SNP	1.000	T	T	93299494	A	T	93299494	3	4	162	1	0	0	0	0	1	0	0	0	6582	188	7	5	1781	5	GOLGA5	14	93299494	Missense_Mutation	SNP	A	TCGA-VR-A8EP-01A-31D-A403-09		93299494	14050046	93	41167											
AHNAK2	113146	genome.wustl.edu	37	chr14	105420323	105420323	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaaattttggtgtctttaAatcgtgtactcgcaccctaa	10	15	7	9	2	1	0	0	0	1	0	3	0	1	0	1	1	2	3	1	1	5	6			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr14:105420323A>C	ENST00000333244.5	-	7	1584	c.1465T>G	c.(1465-1467)Tta>Gta	p.L489V	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	489						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)			GGTGTCTTTAAATCGTGTACT	0.502																																																	0													53	56	55					14																	105420323		1966	4146	6112	SO:0001583	missense	0			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.1465T>G	14.37:g.105420323A>C	ENSP00000353114:p.Leu489Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L489V	ENST00000333244.5	37	c.1465	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	a	12.10	1.835704	0.32421	.	.	ENSG00000185567	ENST00000333244	T	0.05258	3.47	5.03	-5.55	0.02536	.	.	.	.	.	T	0.02807	0.0084	N	0.19112	0.55	0.09310	N	1	P	0.36412	0.552	B	0.37650	0.255	T	0.38866	-0.9641	9	0.10902	T	0.67	.	1.2083	0.01899	0.3101:0.1232:0.325:0.2417	.	489	Q8IVF2	AHNK2_HUMAN	V	489	ENSP00000353114:L489V	ENSP00000353114:L489V	L	-	1	2	AHNAK2	104491368	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.557000	0.00432	-1.310000	0.02312	-0.379000	0.06801	TTA	AHNAK2	-	NULL	ENSG00000185567		0.502	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	59	0	A	NM_138420		105420323	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	16.39	51	10	SNP	0.000	C	C	105420323	A	C	105420323	3	2	162	1	0	0	0	0	1	0	0	0	415	11	1	4	15926	4	AHNAK2	14	105420323	Missense_Mutation	SNP	A	TCGA-VR-A8EP-01A-31D-A403-09	12120829	105420323	1929217	94	41168											
BUB1B	701	genome.wustl.edu	37	chr15	40510661	40510661	+	Missense_Mutation	SNP	A	A	T	1	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	ctttttgtgatttcaggtagAcctgtttggtatagcagatt	8	18	10	5	0	1	3	1	1	0	2	1	3	1	3	1	2	1	4	1	2	3	8			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr15:40510661A>T	ENST00000287598.6	+	22	3050	c.2855A>T	c.(2854-2856)gAc>gTc	p.D952V	PAK6_ENST00000441369.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.D966V|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	952	Protein kinase.				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)		TTTCAGGTAGACCTGTTTGGT	0.393			"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													114	93	100					15																	40510661		2203	4300	6503	SO:0001583	missense	0	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.2855A>T	15.37:g.40510661A>T	ENSP00000287598:p.Asp952Val		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I	p.D966V	ENST00000287598.6	37	c.2897	CCDS10053.1	15	.	.	.	.	.	.	.	.	.	.	A	18.73	3.686172	0.68157	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.68025	-0.3;-0.3	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.69523	2.12	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.82494	-0.0429	10	0.87932	D	0	-20.6387	14.7126	0.69244	1.0:0.0:0.0:0.0	.	952	O60566	BUB1B_HUMAN	V	952;966;835	ENSP00000287598:D952V;ENSP00000398470:D966V	ENSP00000287598:D952V	D	+	2	0	BUB1B	38297953	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.674000	0.68117	2.198000	0.70561	0.533000	0.62120	GAC	BUB1B	-	NULL	ENSG00000156970		0.393	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	HGNC	protein_coding	OTTHUMT00000252122.4	-	0	62	0	A			40510661	1	tier1	-	no_errors	ENST00000412359	ensembl	human	known	74_37	missense	27.97	85	33	SNP	1.000	T	T	40510661	A	T	40510661	3	4	162	1	0	0	0	0	1	0	0	0	1575	275	10	5	2941	5	BUB1B	15	40510661	Missense_Mutation	SNP	A	TCGA-VR-A8EP-01A-31D-A403-09		40510661	62020731	95	41169											
JMJD7-PLA2G4B	100137049	genome.wustl.edu	37	chr15	42137203	42137203	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctggccgagcgtgcccgcTtgggctacccaagctgcttc	5	8	13	15	3	0	0	0	0	0	0	1	1	0	0	3	2	6	5	3	2	2	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr15:42137203T>C	ENST00000452633.1	+	14	1526	c.1174T>C	c.(1174-1176)Ttg>Ctg	p.L392L	JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L623L|PLA2G4B_ENST00000542534.2_Silent_p.L623L|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.L623L|PLA2G4B_ENST00000458483.1_Silent_p.L392L			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	392	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				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)		GCGTGCCCGCTTGGGCTACCC	0.672																																																	0													16	17	17					15																	42137203		2201	4292	6493	SO:0001819	synonymous_variant	0			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.1174T>C	15.37:g.42137203T>C			B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.L623	ENST00000452633.1	37	c.1867	CCDS45241.1	15																																																																																			JMJD7-PLA2G4B	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000168970		0.672	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000345969.1	-	0	20	0	T	NM_001114633		42137203	1	tier1	-	no_errors	ENST00000382448	ensembl	human	known	74_37	silent	34.78	15	8	SNP	0.089	C	C	42137203	T	C	42137203	2	2	162	1	0	0	0	0	0	0	0	1	7982	1606	56	4		4	JMJD7-PLA2G4B	15	42137203	Silent	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	1626542	42137203	60394189	96	41170											
CDAN1	146059	genome.wustl.edu	37	chr15	43023524	43023524	+	Missense_Mutation	SNP	T	T	C	0	1	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	ccatgagatgctggttaaacTggaagctgagaagaaggggt	13	8	15	5	0	0	3	0	2	0	3	0	6	0	4	1	4	3	3	1	4	5	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr15:43023524T>C	ENST00000356231.3	-	12	1768	c.1745A>G	c.(1744-1746)cAg>cGg	p.Q582R		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	582					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTGGTTAAACTGGAAGCTGAG	0.552																																																	0													64	67	66					15																	43023524		2203	4299	6502	SO:0001583	missense	0			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1745A>G	15.37:g.43023524T>C	ENSP00000348564:p.Gln582Arg		Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	NULL	p.Q582R	ENST00000356231.3	37	c.1745	CCDS32209.1	15	.	.	.	.	.	.	.	.	.	.	T	15.65	2.894940	0.52121	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87650	-2.28	5.92	5.92	0.95590	.	0.161288	0.56097	D	0.000025	D	0.83505	0.5269	L	0.43152	1.355	0.52099	D	0.999948	B	0.30361	0.277	B	0.30495	0.116	T	0.80569	-0.1324	10	0.30854	T	0.27	-20.0807	16.3648	0.83312	0.0:0.0:0.0:1.0	.	582	Q8IWY9	CDAN1_HUMAN	R	582;580	ENSP00000348564:Q582R	ENSP00000267892:Q580R	Q	-	2	0	CDAN1	40810816	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.393000	0.79851	2.263000	0.75096	0.533000	0.62120	CAG	CDAN1	-	NULL	ENSG00000140326		0.552	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDAN1	HGNC	protein_coding	OTTHUMT00000431103.1	-	0	23	0	T	XM_085300		43023524	-1	tier1	-	no_errors	ENST00000356231	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	C	C	43023524	T	C	43023524	3	2	162	1	0	0	0	0	1	0	0	0	3061	1580	55	4	2006	4	CDAN1	15	43023524	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	886321	43023524	59507868	97	41171											
UNC13C	440279	genome.wustl.edu	37	chr15	54825247	54825247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtgttaagatctcttatGgattttttggacaaaacgta	12	17	8	4	1	1	1	0	0	1	1	2	3	1	3	0	2	1	2	0	2	5	7			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr15:54825247G>T	ENST00000260323.11	+	25	5679	c.5679G>T	c.(5677-5679)atG>atT	p.M1893I	UNC13C_ENST00000537900.1_Missense_Mutation_p.M1891I|UNC13C_ENST00000545554.1_Missense_Mutation_p.M1893I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1893	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATCTCTTATGGATTTTTTGG	0.338																																																	0													75	75	75					15																	54825247		1811	4076	5887	SO:0001583	missense	0			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.5679G>T	15.37:g.54825247G>T	ENSP00000260323:p.Met1893Ile		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.M1893I	ENST00000260323.11	37	c.5679	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231063	0.79688	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.78595	-1.19;-1.19;-1.19	5.83	5.83	0.93111	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.080271	0.85682	D	0.000000	D	0.89319	0.6681	M	0.84326	2.69	0.58432	D	0.999991	D	0.54964	0.969	D	0.70227	0.968	D	0.89966	0.4090	10	0.87932	D	0	.	19.1044	0.93287	0.0:0.0:1.0:0.0	.	1893	Q8NB66	UN13C_HUMAN	I	1893;1893;1891	ENSP00000260323:M1893I;ENSP00000438156:M1893I;ENSP00000442569:M1891I	ENSP00000260323:M1893I	M	+	3	0	UNC13C	52612539	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.363000	0.90103	2.756000	0.94617	0.655000	0.94253	ATG	UNC13C	-	pfam_Munc13_subgr_dom-2	ENSG00000137766		0.338	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	86	0	G	NM_173166		54825247	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	23.33	92	28	SNP	1.000	T	T	54825247	G	T	54825247	3	4	162	1	0	0	0	0	1	0	0	0	17035	1348	47	3	5773	3	UNC13C	15	54825247	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	11801723	54825247	47706145	98	41172											
RNF111	54778	genome.wustl.edu	37	chr15	59359099	59359099	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcattaggacatcctcaTacaagttgctttcagcagca	12	11	7	11	0	2	0	2	0	0	0	3	1	3	1	1	1	5	5	1	1	3	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr15:59359099T>G	ENST00000557998.1	+	6	1790	c.1503T>G	c.(1501-1503)caT>caG	p.H501Q	RNF111_ENST00000348370.4_Missense_Mutation_p.H501Q|RNF111_ENST00000559209.1_Missense_Mutation_p.H501Q|RNF111_ENST00000561186.1_Missense_Mutation_p.H501Q|RNF111_ENST00000434298.1_Missense_Mutation_p.H501Q	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	501	His-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)		GACATCCTCATACAAGTTGCT	0.517																																					NSCLC(72;983 1365 10746 34387 47081)												0													268	186	214					15																	59359099		2192	4291	6483	SO:0001583	missense	0			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.1503T>G	15.37:g.59359099T>G	ENSP00000452732:p.His501Gln		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H501Q	ENST00000557998.1	37	c.1503	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	T	14.67	2.606223	0.46527	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.26660	1.72;1.73	5.59	-3.81	0.04294	.	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.32530	0.975	0.29777	N	0.834307	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.991;0.996	T	0.33007	-0.9885	10	0.72032	D	0.01	-11.9885	14.5675	0.68188	0.0:0.2733:0.0:0.7267	.	501;501;501	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	Q	501	ENSP00000288199:H501Q;ENSP00000393641:H501Q	ENSP00000288199:H501Q	H	+	3	2	RNF111	57146391	0.004000	0.15560	0.028000	0.17463	0.498000	0.33706	-0.086000	0.11233	-1.197000	0.02673	0.374000	0.22700	CAT	RNF111	-	NULL	ENSG00000157450		0.517	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	0	33	0	T	NM_017610		59359099	1	tier1	-	no_errors	ENST00000434298	ensembl	human	known	74_37	missense	31.25	21	10	SNP	0.032	G	G	59359099	T	G	59359099	3	3	162	1	0	0	0	0	1	0	0	0	13470	1403	49	4	1521	4	RNF111	15	59359099	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	4533852	59359099	43172293	99	41173											
C15orf58	390637	genome.wustl.edu	37	chr15	90784897	90784897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctccaggacctcccagctCctggcttcctcttttacact	5	13	6	17	0	1	0	0	0	1	0	5	1	5	1	5	2	3	3	5	2	1	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr15:90784897C>T	ENST00000558017.1	+	4	1177	c.757C>T	c.(757-759)Cct>Tct	p.P253S	GDPGP1_ENST00000329600.6_Missense_Mutation_p.P253S	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	253					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)										CCTCCCAGCTCCTGGCTTCCT	0.592																																																	0													58	51	54					15																	90784897		2199	4298	6497	SO:0001583	missense	0				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.757C>T	15.37:g.90784897C>T	ENSP00000452793:p.Pro253Ser			Missense_Mutation	SNP	NULL	p.P253S	ENST00000558017.1	37	c.757	CCDS32327.1	15	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263383	0.59431	.	.	ENSG00000183208	ENST00000329600	T	0.21932	1.98	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000023	T	0.41994	0.1183	L	0.47190	1.495	0.54753	D	0.99998	D	0.89917	1.0	D	0.91635	0.999	T	0.01626	-1.1309	10	0.36615	T	0.2	-11.7228	18.957	0.92662	0.0:1.0:0.0:0.0	.	253	Q6ZNW5	VTC2_HUMAN	S	253	ENSP00000368405:P253S	ENSP00000368405:P253S	P	+	1	0	C15orf58	88585901	0.844000	0.29557	0.883000	0.34634	0.185000	0.23345	4.791000	0.62460	2.824000	0.97209	0.655000	0.94253	CCT	GDPGP1	-	NULL	ENSG00000183208		0.592	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPGP1	HGNC	protein_coding	OTTHUMT00000416973.1	-	0	21	0	C	NM_001013657		90784897	1	tier1	-	no_errors	ENST00000329600	ensembl	human	known	74_37	missense	53.85	30	35	SNP	0.986	T	T	90784897	C	T	90784897	3	4	162	1	0	0	0	0	1	0	0	0	1811	855	30	3	759	3	C15orf58	15	90784897	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	31425798	90784897	11746495	100	41174											
ZNF423	23090	genome.wustl.edu	37	chr16	49856581	49856581	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaggcctcccctgctcacCcctcttcttatgcatccatg	6	11	5	19	0	3	0	1	0	2	0	5	0	5	0	7	1	2	2	7	1	2	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr16:49856581C>T	ENST00000561648.1	-	1	69	c.16G>A	c.(16-18)Gtt>Att	p.V6I	ZNF423_ENST00000562520.1_Intron|ZNF423_ENST00000563137.2_Intron|ZNF423_ENST00000262383.2_Splice_Site_p.V6I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	6					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)				CCCTGCTCACCCCTCTTCTTA	0.478																																																	0													164	150	154					16																	49856581		2198	4300	6498	SO:0001630	splice_region_variant	0			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.16+1G>A	16.37:g.49856581C>T			O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V6I	ENST00000561648.1	37	c.16	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191200	0.38707	.	.	ENSG00000102935	ENST00000262383	T	0.10099	2.91	2.16	-0.198	0.13224	.	0.302443	0.20527	N	0.090584	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	P	0.38677	0.642	B	0.24394	0.053	T	0.47471	-0.9115	9	.	.	.	.	7.5604	0.27847	0.0:0.4688:0.5312:0.0	.	6	Q2M1K9	ZN423_HUMAN	I	6	ENSP00000262383:V6I	.	V	-	1	0	ZNF423	48414082	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	-0.102000	0.10956	-0.020000	0.14032	0.561000	0.74099	GTT	ZNF423	-	NULL	ENSG00000102935		0.478	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	-	0	21	0	C	NM_015069	Missense_Mutation	49856581	-1	tier1	-	no_errors	ENST00000262383	ensembl	human	known	74_37	missense	60.00	12	18	SNP	0.000	T	T	49856581	C	T	49856581	5	4	162	1	0	0	0	0	0	0	1	0	17946	637	22	3	3870	3	ZNF423	16	49856581	Splice_Site	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09		49856581	40498172	101	41175											
CYLD	1540	genome.wustl.edu	37	chr16	50785664	50785664	+	Silent	SNP	T	T	C	0	1	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	ttggaaagtgattacgcaggTcctggggacacaatgcaggt	11	9	14	7	1	0	1	0	1	0	0	1	3	1	3	1	5	2	2	1	5	3	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr16:50785664T>C	ENST00000427738.3	+	3	859	c.654T>C	c.(652-654)ggT>ggC	p.G218G	CYLD_ENST00000568704.2_Silent_p.G218G|CYLD_ENST00000566206.1_Silent_p.G218G|CYLD_ENST00000540145.1_Silent_p.G218G|CYLD_ENST00000569418.1_Silent_p.G218G|CYLD_ENST00000398568.2_Silent_p.G218G|CYLD_ENST00000564326.1_Silent_p.G218G|CYLD_ENST00000311559.9_Silent_p.G218G			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	218	Interaction with TRIP.				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)				ATTACGCAGGTCCTGGGGACA	0.413			"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													130	124	126					16																	50785664		1939	4139	6078	SO:0001819	synonymous_variant	0	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.654T>C	16.37:g.50785664T>C			O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67	p.G218	ENST00000427738.3	37	c.654	CCDS45482.1	16																																																																																			CYLD	-	superfamily_CAP-Gly_domain	ENSG00000083799		0.413	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2	-	0	54	0	T			50785664	1	tier1	-	no_errors	ENST00000311559	ensembl	human	known	74_37	silent	52.17	21	24	SNP	0.856	C	C	50785664	T	C	50785664	2	2	162	1	0	0	0	0	0	0	0	1	4152	1654	58	4		4	CYLD	16	50785664	Silent	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	929083	50785664	39569089	102	41176											
KCTD19	146212	genome.wustl.edu	37	chr16	67325252	67325252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaccaccttggctgtgatgGctttggggtccttttgcctg	4	14	13	10	0	0	2	0	1	0	1	1	2	1	2	4	4	1	2	4	4	0	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr16:67325252G>T	ENST00000304372.5	-	14	2580	c.2525C>A	c.(2524-2526)gCc>gAc	p.A842D		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	842					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)		GGCTGTGATGGCTTTGGGGTC	0.547																																																	0													78	79	79					16																	67325252		2023	4189	6212	SO:0001583	missense	0			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.2525C>A	16.37:g.67325252G>T	ENSP00000305702:p.Ala842Asp		B4DZ49|Q8N804	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.A842D	ENST00000304372.5	37	c.2525	CCDS42179.1	16	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444780	0.43429	.	.	ENSG00000168676	ENST00000304372	T	0.59224	0.28	5.62	3.67	0.42095	.	0.255590	0.27567	N	0.018789	T	0.37265	0.0997	N	0.19112	0.55	0.30097	N	0.807835	B	0.18741	0.03	B	0.15870	0.014	T	0.32851	-0.9891	10	0.66056	D	0.02	-5.3976	4.7575	0.13092	0.1741:0.0:0.6533:0.1725	.	842	Q17RG1	KCD19_HUMAN	D	842	ENSP00000305702:A842D	ENSP00000305702:A842D	A	-	2	0	KCTD19	65882753	0.972000	0.33761	1.000000	0.80357	0.976000	0.68499	0.833000	0.27504	1.388000	0.46506	0.455000	0.32223	GCC	KCTD19	-	NULL	ENSG00000168676		0.547	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD19	HGNC	protein_coding	OTTHUMT00000422061.1	-	0	35	0	G	XM_085367		67325252	-1	tier1	-	no_errors	ENST00000304372	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.996	T	T	67325252	G	T	67325252	3	4	162	1	0	0	0	0	1	0	0	0	8133	1203	42	3	267	3	KCTD19	16	67325252	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	16539588	67325252	23029501	103	41177											
RLTPR	146206	genome.wustl.edu	37	chr16	67690174	67690174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggcccctcccatctcgatCaagtcccgcacccactctgt	7	8	7	19	2	3	0	1	0	2	0	6	2	5	0	5	1	0	1	5	1	1	0			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr16:67690174C>G	ENST00000334583.6	+	34	4114	c.3786C>G	c.(3784-3786)atC>atG	p.I1262M	RLTPR_ENST00000545661.1_Missense_Mutation_p.I1226M	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1262					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)		CCATCTCGATCAAGTCCCGCA	0.577																																																	0													138	137	137					16																	67690174		2042	4188	6230	SO:0001583	missense	0			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.3786C>G	16.37:g.67690174C>G	ENSP00000334958:p.Ile1262Met		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.I1262M	ENST00000334583.6	37	c.3786	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601212	0.13939	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.13657	2.57;2.57	5.1	0.395	0.16304	.	0.248699	0.28815	N	0.014052	T	0.05318	0.0141	N	0.08118	0	0.27785	N	0.943016	B;P	0.34546	0.001;0.456	B;B	0.28553	0.002;0.091	T	0.29671	-1.0004	10	0.45353	T	0.12	-21.2948	7.6859	0.28540	0.0:0.3867:0.4451:0.1682	.	1226;1262	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	M	1262;359;1226	ENSP00000334958:I1262M;ENSP00000441481:I1226M	ENSP00000334958:I1262M	I	+	3	3	RLTPR	66247675	0.999000	0.42202	0.892000	0.35008	0.569000	0.35902	0.392000	0.20801	-0.063000	0.13065	-0.440000	0.05779	ATC	RLTPR	-	NULL	ENSG00000159753		0.577	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	-	0	31	0	C	NM_001013838		67690174	1	tier1	-	no_errors	ENST00000334583	ensembl	human	known	74_37	missense	32.35	23	11	SNP	0.943	G	G	67690174	C	G	67690174	3	3	162	1	0	0	0	0	1	0	0	0	13439	816	29	5	3920	5	RLTPR	16	67690174	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	364922	67690174	22664579	104	41178											
TP53	7157	genome.wustl.edu	37	chr17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ggcaggtcttggccagttggCaaaacatcttgttgagggca	9	10	14	8	0	2	1	0	1	2	0	2	1	2	1	1	5	1	5	1	5	2	4	rs587781991		TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr17:7578526C>T	ENST00000269305.4	-	5	593	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000420246.2_Missense_Mutation_p.C135Y|TP53_ENST00000455263.2_Missense_Mutation_p.C135Y	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	135	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).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(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)	GGCCAGTTGGCAAAACATCTT	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"	152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)											50	50	50					17																	7578526		2203	4300	6503	SO:0001583	missense	0	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.404G>A	17.37:g.7578526C>T	ENSP00000269305:p.Cys135Tyr		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C135Y	ENST00000269305.4	37	c.404	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639320	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.929;1.0;1.0;1.0;1.0	D	0.97312	0.9938	10	0.87932	D	0	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135Y;ENSP00000352610:C135Y;ENSP00000269305:C135Y;ENSP00000398846:C135Y;ENSP00000391127:C135Y;ENSP00000391478:C135Y;ENSP00000425104:C3Y;ENSP00000423862:C42Y;ENSP00000424104:C135Y	ENSP00000269305:C135Y	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	12	0	C	NM_000546		7578526	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	41.67	7	5	SNP	1.000	T	T	7578526	C	T	7578526	3	4	162	1	0	0	0	0	1	0	0	0	16429	710	25	3	894	3	TP53	17	7578526	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09		7578526	73616684	105	41179											
GAS7	8522	genome.wustl.edu	37	chr17	9821406	9821406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccctctccacctccagcCgctctagctcctgccgagaa	7	8	6	20	2	2	1	0	0	2	1	5	2	4	1	7	0	4	2	7	0	3	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr17:9821406C>A	ENST00000432992.2	-	13	1389	c.1229G>T	c.(1228-1230)cGg>cTg	p.R410L	GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Missense_Mutation_p.R115L|GAS7_ENST00000579158.1_Missense_Mutation_p.R346L|GAS7_ENST00000542249.1_Missense_Mutation_p.R346L|GAS7_ENST00000437099.2_Missense_Mutation_p.R346L|GAS7_ENST00000580865.1_Missense_Mutation_p.R270L|GAS7_ENST00000585266.1_Missense_Mutation_p.R350L|GAS7_ENST00000323816.4_Missense_Mutation_p.R350L|GAS7_ENST00000396115.2_Missense_Mutation_p.R115L	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	410					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CACCTCCAGCCGCTCTAGCTC	0.582			T	MLL	AML*																																			Dom	yes		17	17p	8522	growth arrest-specific 7		L	0													59	51	54					17																	9821406		2203	4300	6503	SO:0001583	missense	0			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1229G>T	17.37:g.9821406C>A	ENSP00000407552:p.Arg410Leu		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom	p.R410L	ENST00000432992.2	37	c.1229	CCDS11152.1	17	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928144	0.73327	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000540214;ENST00000537970;ENST00000542249;ENST00000541114	T;T	0.42131	0.98;0.98	5.08	5.08	0.68730	.	0.127287	0.47455	D	0.000224	T	0.35998	0.0951	L	0.27053	0.805	0.54753	D	0.999984	B;P;B;D	0.54207	0.09;0.826;0.031;0.965	B;B;B;P	0.45071	0.031;0.247;0.017;0.468	T	0.06445	-1.0826	9	.	.	.	2.5616	17.4073	0.87477	0.0:1.0:0.0:0.0	.	362;350;270;410	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	L	410;350;349;270;115;350;59;224	ENSP00000379421:R350L;ENSP00000446214:R115L	.	R	-	2	0	GAS7	9762131	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	3.150000	0.50662	2.652000	0.90054	0.655000	0.94253	CGG	GAS7	-	NULL	ENSG00000007237		0.582	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS7	HGNC	protein_coding	OTTHUMT00000439883.1	-	0	27	0	C	NM_003644, NM_201432, NM_201433		9821406	-1	tier1	-	no_errors	ENST00000432992	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	A	A	9821406	C	A	9821406	3	1	162	1	0	0	0	0	1	0	0	0	6275	652	23	2	209	2	GAS7	17	9821406	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	2242880	9821406	71373804	106	41180											
MRC2	9902	genome.wustl.edu	37	chr17	60766262	60766262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcccacttcactggccGctgggacgatcggagctgca	7	7	12	15	3	2	0	2	0	0	0	3	3	2	2	2	3	3	3	2	3	0	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr17:60766262G>A	ENST00000303375.5	+	23	3677	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	MRC2_ENST00000446119.2_Missense_Mutation_p.A38T|MRC2_ENST00000580916.1_3'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1092	C-type lectin 6. {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						TTCACTGGCCGCTGGGACGAT	0.662																																																	0													41	36	38					17																	60766262		2203	4300	6503	SO:0001583	missense	0			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.3275G>A	17.37:g.60766262G>A	ENSP00000307513:p.Arg1092His		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.R1092H	ENST00000303375.5	37	c.3275	CCDS11634.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.39|18.39	3.613393|3.613393	0.66672|0.66672	.|.	.|.	ENSG00000011028|ENSG00000011028	ENST00000446119|ENST00000303375	T|T	0.03065|0.19250	4.06|2.16	4.59|4.59	4.59|4.59	0.56863|0.56863	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|0.058761	.|0.64402	.|D	.|0.000002	T|T	0.37433|0.37433	0.1003|0.1003	L|L	0.47716|0.47716	1.5|1.5	0.20403|0.20403	N|N	0.999903|0.999903	P|D	0.44659|0.89917	0.84|1.0	B|D	0.33799|0.73380	0.17|0.98	T|T	0.08806|0.08806	-1.0704|-1.0704	9|10	0.38643|0.39692	T|T	0.18|0.17	-34.4856|-34.4856	14.117|14.117	0.65161|0.65161	0.0:0.0:0.8495:0.1505|0.0:0.0:0.8495:0.1505	.|.	38|1092	E7EME3|Q9UBG0	.|MRC2_HUMAN	T|H	38|1092	ENSP00000400445:A38T|ENSP00000307513:R1092H	ENSP00000400445:A38T|ENSP00000307513:R1092H	A|R	+|+	1|2	0|0	MRC2|MRC2	58119994|58119994	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	3.816000|3.816000	0.55658|0.55658	2.355000|2.355000	0.79922|0.79922	0.561000|0.561000	0.74099|0.74099	GCT|CGC	MRC2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000011028		0.662	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1		0	48	0	G			60766262	1			no_errors	ENST00000303375	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	A	A	60766262	G	A	60766262	3	1	162	1	0	0	0	0	1	0	0	0	9796	1087	38	1	3365	1	MRC2	17	60766262	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	50944856	60766262	20428948	107	41181											
YES1	7525	genome.wustl.edu	37	chr18	746023	746023	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaagtaatctttcagcatCttttctccccattttgccaa	11	15	3	12	0	4	0	1	0	3	0	5	0	4	0	3	0	2	2	3	0	4	6			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr18:746023C>G	ENST00000584307.1	-	5	669	c.499G>C	c.(499-501)Gat>Cat	p.D167H	YES1_ENST00000577961.1_Missense_Mutation_p.D172H|YES1_ENST00000314574.4_Missense_Mutation_p.D167H			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	167	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CTTTCAGCATCTTTTCTCCCC	0.299																																																	0													46	47	47					18																	746023		2201	4292	6493	SO:0001583	missense	0			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.499G>C	18.37:g.746023C>G	ENSP00000462468:p.Asp167His		A6NLB3|D3DUH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.D167H	ENST00000584307.1	37	c.499	CCDS11824.1	18	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884147	0.51908	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.89270	-2.49	5.7	4.83	0.62350	SH2 motif (5);	0.044219	0.85682	D	0.000000	D	0.94440	0.8211	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95082	0.8214	10	0.87932	D	0	.	14.6322	0.68663	0.0:0.9303:0.0:0.0697	.	167	P07947	YES_HUMAN	H	167	ENSP00000324740:D167H	ENSP00000324740:D167H	D	-	1	0	YES1	736023	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.717000	0.84732	1.421000	0.47157	0.591000	0.81541	GAT	YES1	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000176105		0.299	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YES1	HGNC	protein_coding	OTTHUMT00000440827.2	-	0	49	0	C	NM_005433		746023	-1	tier1	-	no_errors	ENST00000314574	ensembl	human	known	74_37	missense	47.76	35	32	SNP	1.000	G	G	746023	C	G	746023	3	3	162	1	0	0	0	0	1	0	0	0	17523	913	32	5	1164	5	YES1	18	746023	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09		746023	77331225	108	41182											
EMILIN2	84034	genome.wustl.edu	37	chr18	2891551	2891551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttacattgaggaaacccttCggggcgccattaatggagag	11	10	12	8	2	0	2	0	1	0	1	1	4	0	3	2	4	2	0	2	4	3	5	rs546388595	byFrequency	TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr18:2891551C>T	ENST00000254528.3	+	4	1585	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	476					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.R476W(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGAAACCCTTCGGGGCGCCAT	0.463													C|||	3	0.000599042	0	0.0014	5008	,	,		21889	0		0	False		,,,				2504	0.002																1	Substitution - Missense(1)	large_intestine(1)											87	96	93					18																	2891551		2203	4300	6503	SO:0001583	missense	0			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1426C>T	18.37:g.2891551C>T	ENSP00000254528:p.Arg476Trp		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.R476W	ENST00000254528.3	37	c.1426	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801904	0.50315	.	.	ENSG00000132205	ENST00000254528	T	0.03689	3.84	5.4	4.52	0.55395	.	0.000000	0.64402	D	0.000007	T	0.14614	0.0353	M	0.62723	1.935	0.21527	N	0.999655	D	0.89917	1.0	D	0.76575	0.988	T	0.01935	-1.1244	10	0.54805	T	0.06	-39.8923	13.2759	0.60188	0.2884:0.7116:0.0:0.0	.	476	Q9BXX0	EMIL2_HUMAN	W	476	ENSP00000254528:R476W	ENSP00000254528:R476W	R	+	1	2	EMILIN2	2881551	0.045000	0.20229	0.866000	0.34008	0.642000	0.38348	0.473000	0.22132	1.242000	0.43836	0.563000	0.77884	CGG	EMILIN2	-	NULL	ENSG00000132205		0.463	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2		0	21	0	C	NM_032048		2891551	1			no_errors	ENST00000254528	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.235	T	T	2891551	C	T	2891551	3	4	162	1	0	0	0	0	1	0	0	0	5110	875	31	1	1440	1	EMILIN2	18	2891551	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	2145528	2891551	75185697	109	41183											
ZNF521	25925	genome.wustl.edu	37	chr18	22804854	22804854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaattcctcaagtcagggtGcatttggcaatgctctaaaa	12	11	10	8	0	3	0	2	0	1	0	4	1	4	1	1	3	2	3	1	3	5	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr18:22804854G>T	ENST00000361524.3	-	4	3176	c.3028C>A	c.(3028-3030)Cac>Aac	p.H1010N	ZNF521_ENST00000538137.2_Missense_Mutation_p.H1010N|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.H790N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1010					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)					AAGTCAGGGTGCATTTGGCAA	0.488			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													73	66	68					18																	22804854		2203	4300	6503	SO:0001583	missense	0			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.3028C>A	18.37:g.22804854G>T	ENSP00000354794:p.His1010Asn		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H1010N	ENST00000361524.3	37	c.3028	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122616	0.37436	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.14144	2.53;2.54	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.046625	0.85682	D	0.000000	T	0.30198	0.0757	L	0.29908	0.895	0.50813	D	0.99989	D	0.71674	0.998	D	0.79784	0.993	T	0.00749	-1.1582	10	0.87932	D	0	-32.9011	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1010	Q96K83	ZN521_HUMAN	N	1010;1044;1010	ENSP00000354794:H1010N;ENSP00000382352:H1010N	ENSP00000354794:H1010N	H	-	1	0	ZNF521	21058852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CAC	ZNF521	-	smart_Znf_C2H2-like	ENSG00000198795		0.488	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	24	0	G	NM_015461		22804854	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	T	T	22804854	G	T	22804854	3	4	162	1	0	0	0	0	1	0	0	0	18013	1319	46	3	927	3	ZNF521	18	22804854	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	19913303	22804854	55272394	110	41184											
PIGN	23556	genome.wustl.edu	37	chr18	59768391	59768391	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagtgctatacacaacaTacatggagagcactgtgctc	12	10	9	10	0	1	2	0	1	1	1	2	3	1	2	0	1	6	3	0	1	4	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr18:59768391T>A	ENST00000357637.5	-	22	2409	c.1994A>T	c.(1993-1995)tAt>tTt	p.Y665F	PIGN_ENST00000400334.3_Missense_Mutation_p.Y665F	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	665					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)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ATACACAACATACATGGAGAG	0.398																																																	0													96	85	88					18																	59768391		1891	4125	6016	SO:0001583	missense	0			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.1994A>T	18.37:g.59768391T>A	ENSP00000350263:p.Tyr665Phe		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.Y665F	ENST00000357637.5	37	c.1994	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397783	0.42512	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.54279	0.58;0.58	5.57	1.78	0.24846	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.218074	0.40554	N	0.001079	T	0.47728	0.1461	L	0.58428	1.81	0.52099	D	0.999944	B;B	0.30211	0.063;0.273	B;B	0.39771	0.071;0.309	T	0.19976	-1.0289	10	0.23891	T	0.37	-2.5425	5.5669	0.17175	0.292:0.0762:0.0:0.6319	.	665;665	B2RCI8;O95427	.;PIGN_HUMAN	F	665	ENSP00000350263:Y665F;ENSP00000383188:Y665F	ENSP00000350263:Y665F	Y	-	2	0	PIGN	57919371	0.083000	0.21467	0.801000	0.32222	0.992000	0.81027	0.818000	0.27295	0.050000	0.15949	0.477000	0.44152	TAT	PIGN	-	pfam_GPI_EtnP_transferase_1_C	ENSG00000197563		0.398	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2	-	0	43	0	T	NM_176787		59768391	-1	tier1	-	no_errors	ENST00000357637	ensembl	human	known	74_37	missense	38.18	34	21	SNP	0.949	A	A	59768391	T	A	59768391	3	1	162	1	0	0	0	0	1	0	0	0	11932	1406	49	5	841	5	PIGN	18	59768391	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	36963537	59768391	18308857	111	41185											
SCAMP4	113178	genome.wustl.edu	37	chr19	1924143	1924143	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggctggcggaagcttcCagaaggcacagacggagtgg	10	4	19	8	2	0	2	0	0	0	2	1	5	1	4	1	7	1	3	1	7	2	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr19:1924143C>T	ENST00000316097.8	+	7	817	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	SCAMP4_ENST00000414057.2_3'UTR|SCAMP4_ENST00000409472.1_Nonsense_Mutation_p.Q150*	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	184					protein transport (GO:0015031)	integral component of membrane (GO:0016021)							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)		CGGAAGCTTCCAGAAGGCACA	0.627																																																	0													37	44	42					19																	1924143		2019	4170	6189	SO:0001587	stop_gained	0			AK091166	CCDS45903.1	19p13.3	2013-02-21			ENSG00000227500	ENSG00000227500		"Secretory carrier membrane proteins"	30385	protein-coding gene	gene with protein product		613764					Standard	NM_079834		Approved	FLJ33847	uc002luj.4	Q969E2	OTTHUMG00000154590	ENST00000316097.8:c.550C>T	19.37:g.1924143C>T	ENSP00000316007:p.Gln184*		Q8N2N1|Q8NAV0	Nonsense_Mutation	SNP	pfam_SCAMP	p.Q184*	ENST00000316097.8	37	c.550	CCDS45903.1	19	.	.	.	.	.	.	.	.	.	.	c	34	5.363309	0.95877	.	.	ENSG00000227500	ENST00000316097;ENST00000409472	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-7.9929	12.3375	0.55075	0.1689:0.8311:0.0:0.0	.	.	.	.	X	184;150	.	ENSP00000316007:Q184X	Q	+	1	0	SCAMP4	1875143	0.999000	0.42202	1.000000	0.80357	0.863000	0.49368	1.078000	0.30754	2.301000	0.77427	0.462000	0.41574	CAG	SCAMP4	-	NULL	ENSG00000227500		0.627	SCAMP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP4	HGNC	protein_coding	OTTHUMT00000336210.3	-	0	44	0	C	NM_079834		1924143	1	tier1	-	no_errors	ENST00000316097	ensembl	human	known	74_37	nonsense	6.67	70	5	SNP	1.000	T	T	1924143	C	T	1924143	4	4	162	1	0	0	0	0	0	1	0	0	13918	595	21	3	572	3	SCAMP4	19	1924143	Nonsense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09		1924143	57204840	112	41186											
ZNF439	90594	genome.wustl.edu	37	chr19	11979010	11979010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaagacatgaaaaaactCacagtggagagaaaccgtat	19	7	8	7	1	2	3	2	1	0	2	2	5	2	4	1	1	2	1	1	1	6	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr19:11979010C>T	ENST00000304030.2	+	3	1326	c.1126C>T	c.(1126-1128)Cac>Tac	p.H376Y	ZNF439_ENST00000455282.1_Missense_Mutation_p.H240Y|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	376					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						TGAAAAAACTCACAGTGGAGA	0.408																																																	0													57	58	58					19																	11979010		2203	4300	6503	SO:0001583	missense	0			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.1126C>T	19.37:g.11979010C>T	ENSP00000305077:p.His376Tyr		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H376Y	ENST00000304030.2	37	c.1126	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	c	14.35	2.509073	0.44660	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.67523	-0.27;-0.27	0.575	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83663	0.5303	H	0.94582	3.555	0.34124	D	0.664497	D	0.89917	1.0	D	0.97110	1.0	D	0.85916	0.1443	9	0.72032	D	0.01	.	8.6675	0.34130	0.0:1.0:0.0:0.0	.	376	Q8NDP4	ZN439_HUMAN	Y	240;376	ENSP00000395632:H240Y;ENSP00000305077:H376Y	ENSP00000305077:H376Y	H	+	1	0	ZNF439	11840010	0.726000	0.28059	0.031000	0.17742	0.071000	0.16799	3.271000	0.51608	0.577000	0.29470	0.194000	0.17425	CAC	ZNF439	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171291		0.408	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	-	0	68	0	C			11979010	1	tier1	-	no_errors	ENST00000304030	ensembl	human	known	74_37	missense	29.73	77	33	SNP	0.990	T	T	11979010	C	T	11979010	3	4	162	1	0	0	0	0	1	0	0	0	17959	826	29	3	1136	3	ZNF439	19	11979010	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	10054867	11979010	47149973	113	41187											
ZNF700	90592	genome.wustl.edu	37	chr19	12060792	12060792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaccctatgaatgtaaGgaatgcgaaaaagcattctg	17	8	10	6	1	1	2	0	1	1	1	1	5	1	3	1	1	3	2	1	1	7	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr19:12060792G>T	ENST00000254321.5	+	4	2096	c.1953G>T	c.(1951-1953)aaG>aaT	p.K651N	ZNF700_ENST00000482090.1_Missense_Mutation_p.K633N|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATGAATGTAAGGAATGCGAAA	0.413																																																	0													64	64	64					19																	12060792		2203	4300	6503	SO:0001583	missense	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1953G>T	19.37:g.12060792G>T	ENSP00000254321:p.Lys651Asn		B9EGU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K651N	ENST00000254321.5	37	c.1953	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	6.088	0.384558	0.11524	.	.	ENSG00000196757	ENST00000254321	T	0.08546	3.08	0.681	-0.622	0.11560	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06917	0.0176	N	0.04508	-0.205	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.16660	-1.0395	9	0.06625	T	0.88	.	4.8412	0.13491	0.5122:0.0:0.4878:0.0	.	651	Q9H0M5	ZN700_HUMAN	N	651	ENSP00000254321:K651N	ENSP00000254321:K651N	K	+	3	2	ZNF700	11921792	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-7.117000	0.00044	-0.283000	0.09115	0.313000	0.20887	AAG	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.413	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	-	0	51	0	G	NM_144566		12060792	1	tier1	-	no_errors	ENST00000254321	ensembl	human	known	74_37	missense	5.26	90	5	SNP	0.000	T	T	12060792	G	T	12060792	3	4	162	1	0	0	0	0	1	0	0	0	18152	991	35	3	1967	3	ZNF700	19	12060792	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	81782	12060792	47068191	114	41188											
KIAA1683	80726	genome.wustl.edu	37	chr19	18368268	18368268	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacactgccccggggccctCagtgccctggcccatgccct	5	6	11	19	1	1	1	1	0	0	1	1	1	1	1	6	3	3	0	6	3	0	0			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr19:18368268C>A	ENST00000600328.3	-	4	3458	c.3265G>T	c.(3265-3267)Gag>Tag	p.E1089*	KIAA1683_ENST00000600359.3_Nonsense_Mutation_p.E1043*|PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000392413.4_Nonsense_Mutation_p.E1276*|PDE4C_ENST00000355502.3_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	1089						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						CCGGGGCCCTCAGTGCCCTGG	0.687																																																	0													17	18	18					19																	18368268		2197	4294	6491	SO:0001587	stop_gained	0			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.3265G>T	19.37:g.18368268C>A	ENSP00000470780:p.Glu1089*		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.E1276*	ENST00000600328.3	37	c.3826	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	C	40	8.157717	0.98683	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000358422;ENST00000411671	.	.	.	4.41	-1.98	0.07480	.	7.108390	0.00732	N	0.000942	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	9.3178	1.7318	0.02933	0.411:0.331:0.1349:0.1231	.	.	.	.	X	1276;1089;1043;353;474;703	.	ENSP00000351198:E474X	E	-	1	0	KIAA1683	18229268	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.706000	0.05047	-0.929000	0.03757	0.462000	0.41574	GAG	KIAA1683	-	NULL	ENSG00000130518		0.687	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3		0	26	0	C			18368268	-1			no_errors	ENST00000392413	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.000	A	A	18368268	C	A	18368268	4	1	162	1	0	0	0	0	0	1	0	0	8278	835	29	3	281	3	KIAA1683	19	18368268	Nonsense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	6307476	18368268	40760715	115	41189											
ZNF793	390927	genome.wustl.edu	37	chr19	38028524	38028524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgcgggaaatcgtttggtGagaagtcatacctcaatgta	13	11	11	6	2	2	1	2	1	0	1	3	3	2	2	1	2	2	2	1	2	6	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr19:38028524G>A	ENST00000587143.1	+	6	1199	c.964G>A	c.(964-966)Gag>Aag	p.E322K	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000542455.1_Missense_Mutation_p.E322K|ZNF793_ENST00000445217.1_Missense_Mutation_p.E322K			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	322					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.E322K(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCGTTTGGTGAGAAGTCATA	0.468																																					Melanoma(44;400 1431 1499 19093)												1	Substitution - Missense(1)	lung(1)											89	98	95					19																	38028524		2175	4285	6460	SO:0001583	missense	0			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.964G>A	19.37:g.38028524G>A	ENSP00000468605:p.Glu322Lys		E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E322K	ENST00000587143.1	37	c.964	CCDS46062.1	19	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105512	0.77096	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.35789	1.29;1.29	4.11	2.98	0.34508	.	0.000000	0.37955	N	0.001869	T	0.20210	0.0486	N	0.11131	0.1	0.23449	N	0.997653	P	0.46784	0.884	P	0.45474	0.482	T	0.04607	-1.0939	10	0.44086	T	0.13	.	5.8694	0.18795	0.1104:0.2829:0.6067:0.0	.	322	E9PGN4	.	K	322;322;322;321	ENSP00000444355:E322K;ENSP00000396402:E322K	ENSP00000318811:E321K	E	+	1	0	ZNF793	42720364	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.597000	0.02089	2.267000	0.75376	0.637000	0.83480	GAG	ZNF793	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188227		0.468	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF793	HGNC	protein_coding	OTTHUMT00000458621.1	-	0	78	0	G	NM_001013659		38028524	1	tier1	-	no_errors	ENST00000445217	ensembl	human	known	74_37	missense	34.29	68	36	SNP	0.790	A	A	38028524	G	A	38028524	3	1	162	1	0	0	0	0	1	0	0	0	18213	1291	45	3	978	3	ZNF793	19	38028524	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	19660256	38028524	21100459	116	41190											
ZNF540	163255	genome.wustl.edu	37	chr19	38103432	38103432	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcatgtaaggtgtgtgaGaaggcttttagttatagtgg	9	16	14	2	0	0	1	0	1	0	1	0	2	0	1	0	3	1	4	0	3	5	6			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr19:38103432G>C	ENST00000592533.1	+	5	1583	c.1251G>C	c.(1249-1251)gaG>gaC	p.E417D	ZNF540_ENST00000316433.4_Missense_Mutation_p.E417D|ZNF540_ENST00000343599.5_Missense_Mutation_p.E417D|ZNF540_ENST00000589117.1_Missense_Mutation_p.E385D	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	417					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTGTGTGAGAAGGCTTTTA	0.388																																																	0													117	111	113					19																	38103432		2203	4300	6503	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1251G>C	19.37:g.38103432G>C	ENSP00000466274:p.Glu417Asp		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E417D	ENST00000592533.1	37	c.1251	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592316	0.46214	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.35973	1.28	2.26	-1.4	0.08968	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15219	0.0367	N	0.03084	-0.415	0.22156	N	0.999321	B;B	0.06786	0.001;0.001	B;B	0.14023	0.006;0.01	T	0.21552	-1.0242	9	0.87932	D	0	.	6.0312	0.19681	0.4125:0.0:0.5875:0.0	.	385;417	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	D	417;385	ENSP00000324598:E417D	ENSP00000324598:E417D	E	+	3	2	ZNF540	42795272	0.000000	0.05858	0.025000	0.17156	0.854000	0.48673	-1.029000	0.03585	-0.426000	0.07360	0.305000	0.20034	GAG	ZNF540	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.388	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	-	0	48	0	G	NM_152606		38103432	1	tier1	-	no_errors	ENST00000316433	ensembl	human	known	74_37	missense	49.23	33	32	SNP	0.888	C	C	38103432	G	C	38103432	3	2	162	1	0	0	0	0	1	0	0	0	18023	933	33	5	1265	5	ZNF540	19	38103432	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	74908	38103432	21025551	117	41191											
RSPH6A	81492	genome.wustl.edu	37	chr19	46299149	46299149	+	Missense_Mutation	SNP	T	T	C	0	1	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	agtcatctgtctcctcgcccTcctcctcctcctcgccctcc	2	12	4	23	2	3	0	1	0	2	0	11	0	8	0	8	0	0	0	8	0	0	0			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr19:46299149T>C	ENST00000221538.3	-	6	2274	c.2132A>G	c.(2131-2133)gAg>gGg	p.E711G	RSPH6A_ENST00000600188.1_Missense_Mutation_p.E447G|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	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						ctcctcgccctcctcctcctc	0.557																																																	0													71	74	73					19																	46299149		2202	4300	6502	SO:0001583	missense	0			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.2132A>G	19.37:g.46299149T>C	ENSP00000221538:p.Glu711Gly		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	pfam_Radial_spoke	p.E711G	ENST00000221538.3	37	c.2132	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	t	13.10	2.135003	0.37728	.	.	ENSG00000104941	ENST00000221538	T	0.17528	2.27	4.16	4.16	0.48862	.	0.118988	0.56097	D	0.000036	T	0.37758	0.1015	M	0.67953	2.075	0.40521	D	0.980837	D	0.89917	1.0	D	0.83275	0.996	T	0.23655	-1.0182	10	0.62326	D	0.03	-8.1457	11.5188	0.50539	0.0:0.0:0.0:1.0	.	711	Q9H0K4	RSH6A_HUMAN	G	711	ENSP00000221538:E711G	ENSP00000221538:E711G	E	-	2	0	RSPH6A	50990989	1.000000	0.71417	0.719000	0.30619	0.052000	0.14988	5.577000	0.67444	1.891000	0.54761	0.451000	0.29950	GAG	RSPH6A	-	NULL	ENSG00000104941		0.557	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	-	0	27	0	T			46299149	-1	tier1	-	no_errors	ENST00000221538	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	C	C	46299149	T	C	46299149	3	2	162	1	0	0	0	0	1	0	0	0	13752	1551	54	4	25	4	RSPH6A	19	46299149	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	8195717	46299149	12829834	118	41192											
GRIN2D	2906	genome.wustl.edu	37	chr19	48922912	48922912	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtgttcaataattcGgtgcccgtggagaacccccg	7	9	12	13	3	1	1	1	0	0	1	2	2	1	1	4	3	2	1	4	3	3	3			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr19:48922912G>A	ENST00000263269.3	+	9	2020	c.1932G>A	c.(1930-1932)tcG>tcA	p.S644S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	644					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)	TCAATAATTCGGTGCCCGTGG	0.607																																																	0													82	78	79					19																	48922912		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1932G>A	19.37:g.48922912G>A				Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S644	ENST00000263269.3	37	c.1932	CCDS12719.1	19																																																																																			GRIN2D	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000105464		0.607	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	-	0	44	0	G			48922912	1	tier1	-	no_errors	ENST00000263269	ensembl	human	known	74_37	silent	17.24	48	10	SNP	0.045	A	A	48922912	G	A	48922912	2	1	162	1	0	0	0	0	0	0	0	1	6809	1103	39	1		1	GRIN2D	19	48922912	Silent	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	2623763	48922912	10206071	119	41193											
RASIP1	54922	genome.wustl.edu	37	chr19	49230042	49230042	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaagaggcaagggccaacCttggtgaggtagtagacaga	14	6	15	6	0	0	4	0	1	0	3	0	4	0	4	2	4	1	4	2	4	5	4			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr19:49230042C>T	ENST00000222145.4	-	8	2331	c.2127G>A	c.(2125-2127)aaG>aaA	p.K709K	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	709	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AAGGGCCAACCTTGGTGAGGT	0.458																																																	0													164	111	129					19																	49230042		2203	4300	6503	SO:0001630	splice_region_variant	0			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2127+1G>A	19.37:g.49230042C>T			Q6U676	Silent	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.K709	ENST00000222145.4	37	c.2127	CCDS12731.1	19																																																																																			RASIP1	-	pfscan_Dilute	ENSG00000105538		0.458	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1		0	10	0	C	NM_017805	Silent	49230042	-1			no_errors	ENST00000222145	ensembl	human	known	74_37	silent	35.71	9	5	SNP	1.000	T	T	49230042	C	T	49230042	5	4	162	1	0	0	0	0	0	0	1	0	13123	695	24	3	784	3	RASIP1	19	49230042	Splice_Site	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	307130	49230042	9898941	120	41194											
RDH13	112724	genome.wustl.edu	37	chr19	55570631	55570631	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggggcaagccccaccGgtgacatagtccctgagggt	7	8	14	12	1	0	2	0	2	0	0	1	2	1	2	4	4	2	2	4	4	2	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr19:55570631G>T	ENST00000415061.3	-	2	221	c.78C>A	c.(76-78)acC>acA	p.T26T	RDH13_ENST00000396247.3_5'UTR	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	26					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)	AAGCCCCACCGGTGACATAGT	0.627																																																	0													25	24	24					19																	55570631		1567	3581	5148	SO:0001819	synonymous_variant	0				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.78C>A	19.37:g.55570631G>T			Q6UX79|Q96G88	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.T26	ENST00000415061.3	37	c.78	CCDS54320.1	19																																																																																			RDH13	-	NULL	ENSG00000160439		0.627	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	HGNC	protein_coding	OTTHUMT00000451470.1		0	31	0	G	NM_138412		55570631	-1			no_errors	ENST00000415061	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.000	T	T	55570631	G	T	55570631	2	4	162	1	0	0	0	0	0	0	0	1	13237	1103	39	2		2	RDH13	19	55570631	Silent	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	6340589	55570631	3558352	121	41195											
MRPS26	64949	genome.wustl.edu	37	chr20	3028466	3028466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggaagaactacaactgggCcatcaccagagaggggctgg	12	4	14	11	1	1	2	1	0	0	2	1	4	1	3	3	5	3	1	3	5	4	1			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr20:3028466C>T	ENST00000380325.3	+	4	693	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	190					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)	2						TACAACTGGGCCATCACCAGA	0.577																																																	0													66	55	59					20																	3028466		2203	4300	6503	SO:0001583	missense	0			AB051354	CCDS13043.1	20p13	2012-09-13	2004-09-22		ENSG00000125901	ENSG00000125901		"Mitochondrial ribosomal proteins / small subunits"	14045	protein-coding gene	gene with protein product		611988	"chromosome 20 open reading frame 193"	C20orf193		11543634	Standard	NM_030811		Approved	MRP-S13, MRP-S26, RPMS13, dJ534B8.3	uc002whs.3	Q9BYN8	OTTHUMG00000031721	ENST00000380325.3:c.569C>T	20.37:g.3028466C>T	ENSP00000369682:p.Ala190Val		Q96Q58	Missense_Mutation	SNP	NULL	p.A190V	ENST00000380325.3	37	c.569	CCDS13043.1	20	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776587	0.70107	.	.	ENSG00000125901	ENST00000380325	.	.	.	5.74	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	M	0.80183	2.485	0.80722	D	1	P	0.52316	0.952	P	0.47673	0.554	T	0.68051	-0.5511	9	0.72032	D	0.01	-13.314	10.74	0.46147	0.0:0.8534:0.0:0.1466	.	190	Q9BYN8	RT26_HUMAN	V	190	.	ENSP00000369682:A190V	A	+	2	0	MRPS26	2976466	1.000000	0.71417	0.930000	0.37139	0.345000	0.29048	4.296000	0.59055	0.802000	0.34089	-0.218000	0.12543	GCC	MRPS26	-	NULL	ENSG00000125901		0.577	MRPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS26	HGNC	protein_coding	OTTHUMT00000077692.2	-	0	33	0	C	NM_030811		3028466	1	tier1	-	no_errors	ENST00000380325	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.998	T	T	3028466	C	T	3028466	3	4	162	1	0	0	0	0	1	0	0	0	9875	739	26	3	583	3	MRPS26	20	3028466	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09		3028466	59997054	122	41196											
CSE1L	1434	genome.wustl.edu	37	chr20	47710714	47710714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaaaaaattattattcctGaaattcagaaggtatctgga	16	13	8	4	0	2	2	1	1	1	1	3	4	3	4	1	3	0	1	1	3	8	5			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr20:47710714G>C	ENST00000262982.2	+	23	2608	c.2485G>C	c.(2485-2487)Gaa>Caa	p.E829Q	CSE1L_ENST00000542325.1_Missense_Mutation_p.E612Q|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Missense_Mutation_p.E773Q	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	829					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)			TATTATTCCTGAAATTCAGAA	0.303																																																	0													53	54	54					20																	47710714		2203	4300	6503	SO:0001583	missense	0			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.2485G>C	20.37:g.47710714G>C	ENSP00000262982:p.Glu829Gln		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E829Q	ENST00000262982.2	37	c.2485	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804853	0.90623	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.48522	0.81;0.81;0.81	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	L	0.43757	1.38	0.80722	D	1	P;P;B;B;D	0.53151	0.82;0.91;0.221;0.046;0.958	P;P;B;B;P	0.54174	0.527;0.744;0.309;0.138;0.744	T	0.52026	-0.8630	10	0.39692	T	0.17	-20.3347	19.1636	0.93544	0.0:0.0:1.0:0.0	.	518;612;773;773;829	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	Q	427;829;612;773	ENSP00000262982:E829Q;ENSP00000446477:E612Q;ENSP00000379495:E773Q	ENSP00000262982:E829Q	E	+	1	0	CSE1L	47144121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.590000	0.87494	0.655000	0.94253	GAA	CSE1L	-	pfam_CAS_CSE1_C,superfamily_ARM-type_fold	ENSG00000124207		0.303	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	-	0	100	0	G	NM_001316		47710714	1	tier1	-	no_errors	ENST00000262982	ensembl	human	known	74_37	missense	38.89	99	63	SNP	1.000	C	C	47710714	G	C	47710714	3	2	162	1	0	0	0	0	1	0	0	0	3939	1291	45	5	2571	5	CSE1L	20	47710714	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	44682248	47710714	15314806	123	41197											
CHEK2	11200	genome.wustl.edu	37	chr22	29092950	29092950	+	Missense_Mutation	SNP	T	T	A	0	1	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	tctctggctttaagtcacggTgtataataccgttttcatga	9	16	8	8	2	3	1	2	1	1	0	4	1	3	1	1	2	1	3	1	2	4	7			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr22:29092950T>A	ENST00000405598.1	-	11	1225	c.1034A>T	c.(1033-1035)cAc>cTc	p.H345L	CHEK2_ENST00000382580.2_Missense_Mutation_p.H388L|CHEK2_ENST00000403642.1_Missense_Mutation_p.H254L|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.H345L|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.H345L|CHEK2_ENST00000382578.1_Missense_Mutation_p.H254L|CHEK2_ENST00000544772.1_Missense_Mutation_p.H124L|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	345	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TAAGTCACGGTGTATAATACC	0.388			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0													131	111	118					22																	29092950		2203	4300	6503	SO:0001583	missense	0			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.1034A>T	22.37:g.29092950T>A	ENSP00000386087:p.His345Leu		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom	p.H388L	ENST00000405598.1	37	c.1163	CCDS13843.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.3|29.3	4.992537|4.992537	0.93167|0.93167	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000447421|ENST00000434810	T;T;T;T;T;T;T;T|.	0.79352|.	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26|.	5.65|5.65	5.65|5.65	0.86999|0.86999	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	0.88198|0.88198	0.6372|0.6372	H|H	0.97390|0.97390	3.995|3.995	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;1.0;1.0;0.999;1.0|.	D|D	0.92232|0.92232	0.5793|0.5793	10|5	0.87932|.	D|.	0|.	-17.7835|-17.7835	15.0679|15.0679	0.72011|0.72011	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	254;124;345;345;388|.	O96017-4;Q9HBS5;A8JZZ5;O96017;O96017-9|.	.;.;.;CHK2_HUMAN;.|.	L|S	254;124;345;345;345;388;254;278|89	ENSP00000372021:H254L;ENSP00000442458:H124L;ENSP00000329178:H345L;ENSP00000385747:H345L;ENSP00000386087:H345L;ENSP00000372023:H388L;ENSP00000384919:H254L;ENSP00000397478:H278L|.	ENSP00000329178:H345L|.	H|T	-|-	2|1	0|0	CHEK2|CHEK2	27422950|27422950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	6.298000|6.298000	0.72763|0.72763	2.143000|2.143000	0.66587|0.66587	0.528000|0.528000	0.53228|0.53228	CAC|ACC	CHEK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000183765		0.388	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	HGNC	protein_coding	OTTHUMT00000321150.1	-	0	48	0	T	NM_001005735		29092950	-1	tier1	-	no_errors	ENST00000382580	ensembl	human	known	74_37	missense	9.33	68	7	SNP	1.000	A	A	29092950	T	A	29092950	3	1	162	1	0	0	0	0	1	0	0	0	3342	1696	59	5	621	5	CHEK2	22	29092950	Missense_Mutation	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09		29092950	22211616	124	41198											
BPIL2	254240	genome.wustl.edu	37	chr22	32815372	32815372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgttgctgcgattggactCtggcaaagcaaggcggaatc	11	9	13	8	2	1	0	0	0	1	0	2	3	1	2	0	4	3	4	0	4	4	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr22:32815372C>G	ENST00000397452.1	-	13	1347	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	BPIFC_ENST00000534972.1_Missense_Mutation_p.E137Q|BPIFC_ENST00000300399.3_Missense_Mutation_p.E413Q|BPIFC_ENST00000432451.2_Missense_Mutation_p.E170Q			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	413						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CGATTGGACTCTGGCAAAGCA	0.368																																																	0													117	122	120					22																	32815372		2203	4300	6503	SO:0001583	missense	0			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.1237G>C	22.37:g.32815372C>G	ENSP00000380594:p.Glu413Gln		A2RRF1	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.E413Q	ENST00000397452.1	37	c.1237	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097745	0.37048	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.87	3.78	0.43462	.	0.277187	0.37348	N	0.002126	T	0.10680	0.0261	L	0.55990	1.75	0.26560	N	0.973754	B;B	0.22080	0.064;0.051	B;B	0.19946	0.027;0.027	T	0.13899	-1.0492	10	0.21014	T	0.42	-15.7258	10.2827	0.43550	0.0:0.7992:0.2008:0.0	.	170;413	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	Q	413;413;137;170	ENSP00000380594:E413Q;ENSP00000300399:E413Q;ENSP00000439123:E137Q;ENSP00000408920:E170Q	ENSP00000300399:E413Q	E	-	1	0	BPIFC	31145372	0.995000	0.38212	0.874000	0.34290	0.944000	0.59088	1.345000	0.33953	2.238000	0.73509	0.455000	0.32223	GAG	BPIFC	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000184459		0.368	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	-	0	62	0	C	NM_174932		32815372	-1	tier1	-	no_errors	ENST00000300399	ensembl	human	known	74_37	missense	30.43	64	28	SNP	0.872	G	G	32815372	C	G	32815372	3	3	162	1	0	0	0	0	1	0	0	0	1496	922	32	5	302	5	BPIL2	22	32815372	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	3722422	32815372	18489194	125	41199											
TBC1D22A	25771	genome.wustl.edu	37	chr22	47290699	47290699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccacatagacatccctcGcatgagccctgaagcgttga	11	8	9	13	2	0	4	0	3	0	1	3	5	2	4	3	0	2	2	3	0	2	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chr22:47290699G>T	ENST00000337137.4	+	7	1023	c.857G>T	c.(856-858)cGc>cTc	p.R286L	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R227L|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R239L|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R239L|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R208L	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	286	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)		GACATCCCTCGCATGAGCCCT	0.502																																																	0													215	159	178					22																	47290699		2203	4300	6503	SO:0001583	missense	0			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.857G>T	22.37:g.47290699G>T	ENSP00000336724:p.Arg286Leu		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R286L	ENST00000337137.4	37	c.857	CCDS14078.1	22	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818028	0.90790	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.06	5.06	0.68205	Rab-GAP/TBC domain (4);	0.056069	0.64402	D	0.000001	T	0.70535	0.3235	H	0.98068	4.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.72982	0.979;0.974;0.972;0.979	T	0.82890	-0.0233	10	0.87932	D	0	.	15.9266	0.79621	0.0:0.0:1.0:0.0	.	286;208;227;286	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	L	286;239;227;208;239	ENSP00000336724:R286L;ENSP00000370383:R239L;ENSP00000384036:R227L;ENSP00000347932:R208L;ENSP00000385634:R239L	ENSP00000336724:R286L	R	+	2	0	TBC1D22A	45669363	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	7.788000	0.85771	2.355000	0.79922	0.655000	0.94253	CGC	TBC1D22A	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000054611		0.502	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22A	HGNC	protein_coding	OTTHUMT00000317600.3		0	45	0	G	NM_014346		47290699	1			no_errors	ENST00000337137	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	47290699	G	T	47290699	3	4	162	1	0	0	0	0	1	0	0	0	15658	1087	38	2	883	2	TBC1D22A	22	47290699	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09	14475327	47290699	4013867	126	41200											
CNKSR2	22866	genome.wustl.edu	37	chrX	21670529	21670529	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtacctcgaccttttcttgGatatctgtcaaaataccacc	10	14	5	12	1	3	0	1	0	2	0	4	2	3	1	4	1	2	1	4	1	5	6			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chrX:21670529G>C	ENST00000379510.3	+	22	3031	c.2995G>C	c.(2995-2997)Gat>Cat	p.D999H	CNKSR2_ENST00000425654.2_Missense_Mutation_p.D969H	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	999					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCTTTTCTTGGATATCTGTCA	0.393																																																	0													171	142	152					X																	21670529		2203	4300	6503	SO:0001583	missense	0			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2995G>C	X.37:g.21670529G>C	ENSP00000368824:p.Asp999His		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.D999H	ENST00000379510.3	37	c.2995	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268105	0.40095	.	.	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.24908	1.83;1.88	5.8	5.8	0.92144	.	0.056005	0.64402	D	0.000002	T	0.35885	0.0947	L	0.52011	1.625	0.80722	D	1	P;P	0.43938	0.822;0.822	P;P	0.49332	0.607;0.607	T	0.07829	-1.0752	10	0.87932	D	0	-12.7822	14.3654	0.66803	0.0749:0.0:0.9251:0.0	.	969;999	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	H	969;999	ENSP00000397906:D969H;ENSP00000368824:D999H	ENSP00000368824:D999H	D	+	1	0	CNKSR2	21580450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.198000	0.72106	2.439000	0.82584	0.544000	0.68410	GAT	CNKSR2	-	NULL	ENSG00000149970		0.393	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	-	0	42	0	G	NM_014927		21670529	1	tier1	-	no_errors	ENST00000379510	ensembl	human	known	74_37	missense	57.45	20	27	SNP	1.000	C	C	21670529	G	C	21670529	3	2	162	1	0	0	0	0	1	0	0	0	3614	1174	41	5	3090	5	CNKSR2	23	21670529	Missense_Mutation	SNP	G	TCGA-VR-A8EP-01A-31D-A403-09		21670529	133600031	127	41201											
PDK3	5165	genome.wustl.edu	37	chrX	24544323	24544331	+	In_Frame_Del	DEL	CCAGACAAA	CCAGACAAA	-																															ctctgttttcagccaaagcgCcagacaaacctattcaggtg																								rs369738728		TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	CCAGACAAA	CCAGACAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chrX:24544323_24544331delCCAGACAAA	ENST00000379162.4	+	7	917_925	c.682_690delCCAGACAAA	c.(682-690)ccagacaaadel	p.PDK228del	PDK3_ENST00000441463.2_In_Frame_Del_p.PDK228del	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	228	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGCCAAAGCGCCAGACAAACCTATTCAGG	0.364																																																	0																																										SO:0001651	inframe_deletion	0			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.682_690delCCAGACAAA	X.37:g.24544323_24544331delCCAGACAAA	ENSP00000368460:p.Pro228_Lys230del		B4DXG6	In_Frame_Del	DEL	pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.DKP229in_frame_del	ENST00000379162.4	37	c.682_690	CCDS14212.1	X																																																																																			PDK3	-	superfamily_HATPase_ATP-bd	ENSG00000067992		0.364	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK3	HGNC	protein_coding	OTTHUMT00000056097.1		0	11	0	CCAGACAAA	NM_005391		24544331	1			no_errors	ENST00000441463	ensembl	human	known	74_37	in_frame_del	33.33	8	4	DEL	1.000:1.000:0.999:0.997:0.998:1.000:1.000:1.000:0.997	0	-	24544331	CCAGACAAA	-	24544323	7	5	162	1	0	1	0	1	0	0	0	0	11716	739	26	0	708	0	PDK3	23	24544323	In_Frame_Del	DEL	CCAGACAAA	TCGA-VR-A8EP-01A-31D-A403-09	2873794	24544323	130726237	128	41202											
CCDC22	28952	genome.wustl.edu	37	chrX	49098512	49098512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcccttggagcttggctatCagaacttcctctaccccagt	8	12	7	14	0	2	1	1	0	1	1	4	2	4	2	4	2	3	2	4	2	3	5			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chrX:49098512C>G	ENST00000376227.3	+	3	429	c.259C>G	c.(259-261)Cag>Gag	p.Q87E	CCDC22_ENST00000496651.1_Intron	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	87										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GCTTGGCTATCAGAACTTCCT	0.617																																																	0													90	62	71					X																	49098512		2203	4300	6503	SO:0001583	missense	0			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.259C>G	X.37:g.49098512C>G	ENSP00000365401:p.Gln87Glu		A8K7G1	Missense_Mutation	SNP	pfam_DUF812	p.Q87E	ENST00000376227.3	37	c.259	CCDS14322.1	X	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410618	0.83340	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.06	5.06	0.68205	.	0.123265	0.56097	D	0.000031	T	0.77329	0.4114	M	0.68593	2.085	0.47819	D	0.999526	D;P	0.76494	0.999;0.787	D;P	0.83275	0.996;0.485	T	0.78209	-0.2293	9	0.49607	T	0.09	-23.4591	16.1681	0.81785	0.0:1.0:0.0:0.0	.	87;87	B4DLA4;O60826	.;CCD22_HUMAN	E	87	.	ENSP00000365401:Q87E	Q	+	1	0	CCDC22	48985456	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.433000	0.73404	2.334000	0.79466	0.585000	0.79938	CAG	CCDC22	-	pfam_DUF812	ENSG00000101997		0.617	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	HGNC	protein_coding	OTTHUMT00000060822.1	-	0	16	0	C	NM_014008		49098512	1	tier1	-	no_errors	ENST00000376227	ensembl	human	known	74_37	missense	56.25	14	18	SNP	1.000	G	G	49098512	C	G	49098512	3	3	162	1	0	0	0	0	1	0	0	0	2804	827	29	5	269	5	CCDC22	23	49098512	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	24554189	49098512	106172048	129	41203											
TSPYL2	64061	genome.wustl.edu	37	chrX	53114916	53114916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagacattgatgagacaattCatgacatcaagatctctgac	15	10	7	9	0	3	6	2	4	1	3	4	7	3	6	0	0	0	0	0	0	2	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chrX:53114916C>G	ENST00000375442.4	+	6	1474	c.1342C>G	c.(1342-1344)Cat>Gat	p.H448D		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	448					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						TGAGACAATTCATGACATCAA	0.463																																																	0													164	135	145					X																	53114916		2203	4300	6503	SO:0001583	missense	0			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.1342C>G	X.37:g.53114916C>G	ENSP00000364591:p.His448Asp		O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	pfam_NAP_family	p.H448D	ENST00000375442.4	37	c.1342	CCDS14350.1	X	.	.	.	.	.	.	.	.	.	.	C	9.028	0.986597	0.18889	.	.	ENSG00000184205	ENST00000375442	T	0.30714	1.52	2.91	1.94	0.25998	.	0.456642	0.16288	N	0.221029	T	0.18130	0.0435	L	0.29908	0.895	0.21841	N	0.999517	P;P	0.49783	0.782;0.928	B;B	0.39738	0.308;0.221	T	0.14587	-1.0467	10	0.87932	D	0	-4.2041	4.1247	0.10121	0.0:0.7605:0.0:0.2395	.	88;448	Q59GC7;Q9H2G4	.;TSYL2_HUMAN	D	448	ENSP00000364591:H448D	ENSP00000364591:H448D	H	+	1	0	TSPYL2	53131641	1.000000	0.71417	0.475000	0.27278	0.800000	0.45204	0.881000	0.28173	0.544000	0.28883	0.279000	0.19357	CAT	TSPYL2	-	NULL	ENSG00000184205		0.463	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	HGNC	protein_coding	OTTHUMT00000056718.1	-	0	16	0	C	NM_022117		53114916	1	tier1	-	no_errors	ENST00000375442	ensembl	human	known	74_37	missense	62.07	11	18	SNP	0.490	G	G	53114916	C	G	53114916	3	3	162	1	0	0	0	0	1	0	0	0	16708	826	29	5	1364	5	TSPYL2	23	53114916	Missense_Mutation	SNP	C	TCGA-VR-A8EP-01A-31D-A403-09	4016404	53114916	102155644	130	41204											
DCAF12L1	139170	genome.wustl.edu	37	chrX	125685869	125685869	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcggacggatgtgggcataTacggggagacccacctcgct	8	7	14	12	4	0	1	0	0	0	1	2	4	0	3	2	5	1	2	2	5	2	2			TCGA-VR-A8EP-01A-31D-A403-09	TCGA-VR-A8EP-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	57e88cb7-3eac-489b-9bbc-c7caf1f053d1	e61500b2-f617-4c8c-bbf4-0dba18979ba0	g.chrX:125685869T>C	ENST00000371126.1	-	1	965	c.723A>G	c.(721-723)gtA>gtG	p.V241V		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	241										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TGTGGGCATATACGGGGAGAC	0.662																																																	0													37	37	37					X																	125685869		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.723A>G	X.37:g.125685869T>C			Q8IYK3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V241	ENST00000371126.1	37	c.723	CCDS14610.1	X																																																																																			DCAF12L1	-	superfamily_WD40_repeat_dom	ENSG00000198889		0.662	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0	34	0	T	NM_178470		125685869	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	silent	58.18	23	32	SNP	0.120	C	C	125685869	T	C	125685869	2	2	162	1	0	0	0	0	0	0	0	1	4273	1393	49	4		4	DCAF12L1	23	125685869	Silent	SNP	T	TCGA-VR-A8EP-01A-31D-A403-09	72570953	125685869	29584691	131	41205											
RER1	11079	genome.wustl.edu	37	chr1	2332324	2332324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgctacccaccaaacaGaacgaggaattccgcccctt	11	7	6	17	3	0	1	0	0	0	1	2	3	1	2	6	1	3	1	6	1	4	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:2332324G>T	ENST00000605895.1	+	5	448	c.315G>T	c.(313-315)caG>caT	p.Q105H	RER1_ENST00000378513.3_Missense_Mutation_p.R72I|RER1_ENST00000378512.1_Missense_Mutation_p.Q105H|RER1_ENST00000378518.1_Missense_Mutation_p.R72I|RER1_ENST00000488353.1_Missense_Mutation_p.Q105H	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	105					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)		CCACCAAACAGAACGAGGAAT	0.483																																																	0													181	179	180					1																	2332324		1903	4113	6016	SO:0001583	missense	0			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.315G>T	1.37:g.2332324G>T	ENSP00000475168:p.Gln105His		O95322	Missense_Mutation	SNP	pfam_Rer1,pirsf_Rer1	p.Q105H	ENST00000605895.1	37	c.315	CCDS41232.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.58|11.58	1.681225|1.681225	0.29872|0.29872	.|.	.|.	ENSG00000157916|ENSG00000157916	ENST00000306256;ENST00000434662;ENST00000378512;ENST00000443438|ENST00000378518;ENST00000378513	.|.	.|.	.|.	5.68|5.68	2.37|2.37	0.29283|0.29283	.|.	0.115998|.	0.64402|.	N|.	0.000013|.	T|T	0.52306|0.52306	0.1726|0.1726	M|M	0.65975|0.65975	2.015|2.015	0.33589|0.33589	D|D	0.600837|0.600837	D;B|.	0.65815|.	0.995;0.006|.	D;B|.	0.65443|.	0.935;0.027|.	T|T	0.60692|0.60692	-0.7213|-0.7213	9|6	0.46703|0.45353	T|T	0.11|0.12	.|.	2.3481|2.3481	0.04277|0.04277	0.3432:0.0:0.431:0.2258|0.3432:0.0:0.431:0.2258	.|.	105;105|.	Q5T091;O15258|.	.;RER1_HUMAN|.	H|I	105|72	.|.	ENSP00000302088:Q105H|ENSP00000367774:R72I	Q|R	+|+	3|2	2|0	RER1|RER1	2322184|2322184	1.000000|1.000000	0.71417|0.71417	0.848000|0.848000	0.33437|0.33437	0.262000|0.262000	0.26303|0.26303	3.526000|3.526000	0.53509|0.53509	0.720000|0.720000	0.32209|0.32209	0.655000|0.655000	0.94253|0.94253	CAG|AGA	RER1	-	pfam_Rer1,pirsf_Rer1	ENSG00000157916		0.483	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RER1	HGNC	protein_coding	OTTHUMT00000004061.2		0	139	0	G			2332324	1			no_errors	ENST00000488353	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	2332324	G	T	2332324	3	4	163	1	0	0	0	0	1	0	0	0	13275	933	33	3	329	3	RER1	1	2332324	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		2332324	246918297	1	41206											
ARHGEF16	27237	genome.wustl.edu	37	chr1	3382716	3382716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tctctcttttgtgcagaagaCgctggggaggaaacgtgggc	8	10	15	8	2	2	2	0	0	2	2	3	4	2	4	0	4	2	2	0	4	2	2	rs562450072		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:3382716C>T	ENST00000378378.4	+	3	998	c.593C>T	c.(592-594)aCg>aTg	p.T198M	ARHGEF16_ENST00000378373.1_5'UTR|ARHGEF16_ENST00000378371.2_5'Flank	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	198					activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTGCAGAAGACGCTGGGGAGG	0.627													C|||	1	0.000199681	0	0	5008	,	,		17938	0.001		0	False		,,,				2504	0																0													108	104	105					1																	3382716		692	1591	2283	SO:0001583	missense	0			D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.593C>T	1.37:g.3382716C>T	ENSP00000367629:p.Thr198Met		Q86TF0|Q99434	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.T198M	ENST00000378378.4	37	c.593	CCDS46.2	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192592	0.38707	.	.	ENSG00000130762	ENST00000378378	T	0.64260	-0.09	3.5	3.5	0.40072	.	0.710264	0.12879	N	0.431573	T	0.72977	0.3528	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	P	0.56474	0.799	T	0.74197	-0.3743	10	0.45353	T	0.12	-30.8722	15.885	0.79241	0.0:1.0:0.0:0.0	.	198	Q5VV41	ARHGG_HUMAN	M	198	ENSP00000367629:T198M	ENSP00000367629:T198M	T	+	2	0	ARHGEF16	3372576	0.016000	0.18221	0.893000	0.35052	0.743000	0.42351	1.304000	0.33482	2.242000	0.73789	0.655000	0.94253	ACG	ARHGEF16	-	NULL	ENSG00000130762		0.627	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF16	HGNC	protein_coding	OTTHUMT00000001515.1	-	0	63	0	C	NM_014448		3382716	1	tier1	-	no_errors	ENST00000378378	ensembl	human	known	74_37	missense	40.62	38	26	SNP	0.997	T	T	3382716	C	T	3382716	3	4	163	1	0	0	0	0	1	0	0	0	899	536	19	1	599	1	ARHGEF16	1	3382716	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	1050392	3382716	245867905	2	41207											
AJAP1	55966	genome.wustl.edu	37	chr1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-																															acggaagacaactgtggccgCcaccaccaccaccaccacca																								rs141981296	byFrequency	TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	CCA	CCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_ENST00000378190.3_In_Frame_Del_p.T225del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		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)		ACTGTGGccgccaccaccaccac	0.635																																																	1	Insertion - In frame(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	0			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.653_655delCCA	1.37:g.4772592_4772594delCCA	ENSP00000367433:p.Thr225del		Q9Y229	In_Frame_Del	DEL	NULL	p.T222in_frame_del	ENST00000378191.4	37	c.653_655	CCDS54.1	1																																																																																			AJAP1	-	NULL	ENSG00000196581		0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3		0	109	0	CCA	NM_018836		4772585	1	tier1		no_errors	ENST00000378190	ensembl	human	known	74_37	in_frame_del	8.11	34	3	DEL	0.919:0.855:0.873	-	-	4772585	CCA	-	4772583	7	5	163	1	0	1	0	1	0	0	0	0	438	739	26	0	659	0	AJAP1	1	4772583	In_Frame_Del	DEL	CCA	TCGA-VR-A8EQ-01A-11D-A36J-09	1389867	4772583	244478038	3	41208											
DHRS3	9249	genome.wustl.edu	37	chr1	12632790	12632792	+	In_Frame_Del	DEL	GGA	GGA	-																															gagggcatgcattgtccatgGgaggaggaggagggcctggt																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:12632790_12632792delGGA	ENST00000376223.2	-	5	1171_1173	c.788_790delTCC	c.(787-792)ctccca>cca	p.L263del	RNU6ATAC18P_ENST00000408413.1_RNA	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	263					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	ATTGTCCATGGGAGGAGGAGGAG	0.552																																																	0																																										SO:0001651	inframe_deletion	0			AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	17693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 1"	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.788_790delTCC	1.37:g.12632799_12632801delGGA	ENSP00000365397:p.Leu263del		B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	In_Frame_Del	DEL	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L263in_frame_del	ENST00000376223.2	37	c.790_788	CCDS146.1	1																																																																																			DHRS3	-	NULL	ENSG00000162496		0.552	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS3	HGNC	protein_coding	OTTHUMT00000005318.1		0	82	0	GGA	NM_004753		12632792	-1	tier1		no_errors	ENST00000376223	ensembl	human	known	74_37	in_frame_del	14.29	18	3	DEL	1.000:0.999:1.000	-	-	12632792	GGA	-	12632790	7	5	163	1	0	1	0	1	0	0	0	0	4505	1232	43	0	126	0	DHRS3	1	12632790	In_Frame_Del	DEL	GGA	TCGA-VR-A8EQ-01A-11D-A36J-09	7860207	12632790	236617831	4	41209											
EPHA8	2046	genome.wustl.edu	37	chr1	22913120	22913120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctggacccgccgtcctcagCctgcacccgtgagtaccact	6	7	9	19	3	1	1	1	1	0	0	2	2	2	2	7	1	3	2	7	1	1	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:22913120C>T	ENST00000166244.3	+	4	1043	c.971C>T	c.(970-972)gCc>gTc	p.A324V	EPHA8_ENST00000374644.4_Missense_Mutation_p.A324V|EPHA8_ENST00000538803.1_Missense_Mutation_p.A324V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	324	Cys-rich.				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)		CCGTCCTCAGCCTGCACCCGT	0.672																																																	0													41	41	41					1																	22913120		2203	4300	6503	SO:0001583	missense	0			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.971C>T	1.37:g.22913120C>T	ENSP00000166244:p.Ala324Val		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.A324V	ENST00000166244.3	37	c.971	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944922	0.92593	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97378	-0.87;-4.36;-4.36	4.05	4.05	0.47172	.	0.141721	0.48286	D	0.000190	D	0.97219	0.9091	M	0.79926	2.475	0.43508	D	0.995764	P;P	0.44521	0.501;0.837	B;P	0.47864	0.058;0.559	D	0.98068	1.0397	10	0.72032	D	0.01	.	15.3	0.73940	0.0:1.0:0.0:0.0	.	324;324	P29322;P29322-2	EPHA8_HUMAN;.	V	324	ENSP00000166244:A324V;ENSP00000363775:A324V;ENSP00000440274:A324V	ENSP00000166244:A324V	A	+	2	0	EPHA8	22785707	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.603000	0.82811	2.265000	0.75225	0.455000	0.32223	GCC	EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom	ENSG00000070886		0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	-	0	89	0	C	NM_020526		22913120	1	tier1	-	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	22913120	C	T	22913120	3	4	163	1	0	0	0	0	1	0	0	0	5189	739	26	3	985	3	EPHA8	1	22913120	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	10280330	22913120	226337501	5	41210											
IL22RA1	58985	genome.wustl.edu	37	chr1	24465107	24465107	+	Silent	SNP	G	G	T	0	0	1	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	ctgtagaccgtgtctggggtGccctccggcccgctgtccca	3	9	13	16	3	1	1	0	0	1	1	3	1	3	1	5	3	1	2	5	3	1	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:24465107G>T	ENST00000270800.1	-	2	179	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	47	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TGTCTGGGGTGCCCTCCGGCC	0.572																																																	0													102	97	98					1																	24465107		2203	4300	6503	SO:0001819	synonymous_variant	0			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"Interleukins and interleukin receptors"	13700	protein-coding gene	gene with protein product		605457	"interleukin 22 receptor"	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.141C>A	1.37:g.24465107G>T			A8K839|B2R9Y9|Q9HB22	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.G47	ENST00000270800.1	37	c.141	CCDS247.1	1																																																																																			IL22RA1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142677		0.572	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL22RA1	HGNC	protein_coding	OTTHUMT00000008412.1	-	0	83	0	G			24465107	-1	tier1	-	no_errors	ENST00000270800	ensembl	human	novel	74_37	silent	8.33	44	4	SNP	0.000	T	T	24465107	G	T	24465107	2	4	163	1	0	0	0	0	0	0	0	1	7700	1306	46	3		3	IL22RA1	1	24465107	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1551987	24465107	224785514	6	41211											
SLC30A2	7780	genome.wustl.edu	37	chr1	26365782	26365782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	tgtcttcagcacagcctgggCgtctgtattctgagctgggg	5	12	14	10	1	4	1	1	1	3	0	4	1	4	1	1	3	3	3	1	3	1	3	rs149723161	byFrequency	TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:26365782C>A	ENST00000374278.3	-	7	1057	c.841G>T	c.(841-843)Gcc>Tcc	p.A281S	SLC30A2_ENST00000374276.3_Missense_Mutation_p.A330S	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	281					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)	p.A330T(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGCCTGGGCGTCTGTATTC	0.587																																																	1	Substitution - Missense(1)	endometrium(1)											51	50	50					1																	26365782		2203	4300	6503	SO:0001583	missense	0			AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"Solute carriers"	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.841G>T	1.37:g.26365782C>A	ENSP00000363396:p.Ala281Ser		Q71RC8	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A330S	ENST00000374278.3	37	c.988	CCDS272.1	1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308709	0.23821	.	.	ENSG00000158014	ENST00000374278;ENST00000374276	T;T	0.66460	-0.21;-0.21	5.76	3.79	0.43588	.	0.445236	0.22837	N	0.055035	T	0.38427	0.1040	N	0.11131	0.1	0.29643	N	0.844538	B;B	0.13145	0.007;0.002	B;B	0.15484	0.013;0.007	T	0.26467	-1.0102	10	0.07990	T	0.79	-12.191	5.3487	0.16024	0.1463:0.6337:0.1418:0.0782	.	281;330	Q9BRI3;Q9BRI3-2	ZNT2_HUMAN;.	S	281;330	ENSP00000363396:A281S;ENSP00000363394:A330S	ENSP00000363394:A330S	A	-	1	0	SLC30A2	26238369	0.064000	0.20934	0.892000	0.35008	0.869000	0.49853	0.301000	0.19174	1.444000	0.47605	0.561000	0.74099	GCC	SLC30A2	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000158014		0.587	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	SLC30A2	HGNC	protein_coding	OTTHUMT00000019742.1		0	32	0	C	NM_032513		26365782	-1			no_errors	ENST00000374276	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.795	A	A	26365782	C	A	26365782	3	1	163	1	0	0	0	0	1	0	0	0	14600	768	27	2	134	2	SLC30A2	1	26365782	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	1900675	26365782	222884839	7	41212											
AHDC1	27245	genome.wustl.edu	37	chr1	27874532	27874532	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacccaggctgggcgagtcGcagtggaagccttggccaaa	9	5	15	12	2	0	0	0	0	0	0	1	2	0	1	3	4	1	3	3	4	2	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:27874532G>A	ENST00000247087.5	-	5	4691	c.4095C>T	c.(4093-4095)tgC>tgT	p.C1365C	AHDC1_ENST00000374011.2_Silent_p.C1365C			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1365							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)		TGGGCGAGTCGCAGTGGAAGC	0.632																																																	0													73	68	70					1																	27874532		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4095C>T	1.37:g.27874532G>A			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	NULL	p.C1365	ENST00000247087.5	37	c.4095	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.632	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3		0	86	0	G			27874532	-1			no_errors	ENST00000247087	ensembl	human	known	74_37	silent	5.45	52	3	SNP	1.000	A	A	27874532	G	A	27874532	2	1	163	1	0	0	0	0	0	0	0	1	412	1079	38	1		1	AHDC1	1	27874532	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1508750	27874532	221376089	8	41213											
HDAC1	3065	genome.wustl.edu	37	chr1	32782361	32782361	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtccagataacatgtcggaGtacagcaagcagatgcagag	14	6	12	9	2	0	3	0	0	0	3	2	4	1	4	1	1	5	4	1	1	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:32782361G>A	ENST00000373548.3	+	3	342	c.258G>A	c.(256-258)gaG>gaA	p.E86E	HDAC1_ENST00000373541.2_5'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	86	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|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)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|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)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|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)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|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)	p.E86D(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	ACATGTCGGAGTACAGCAAGC	0.507																																																	1	Substitution - Missense(1)	kidney(1)											180	159	166					1																	32782361		2203	4300	6503	SO:0001819	synonymous_variant	0			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.258G>A	1.37:g.32782361G>A			Q92534	Silent	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.E86	ENST00000373548.3	37	c.258	CCDS360.1	1																																																																																			HDAC1	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1	ENSG00000116478		0.507	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC1	HGNC	protein_coding	OTTHUMT00000019815.3		0	38	0	G	NM_004964		32782361	1			no_errors	ENST00000373548	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.995	A	A	32782361	G	A	32782361	2	1	163	1	0	0	0	0	0	0	0	1	7031	1020	36	3		3	HDAC1	1	32782361	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	4907829	32782361	216468260	9	41214											
YARS	8565	genome.wustl.edu	37	chr1	33276597	33276597	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgtggttgccgttcccCagtaaattttaagttcccgc	6	13	9	13	3	0	0	0	0	0	0	2	0	2	0	5	1	2	4	5	1	3	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:33276597C>G	ENST00000373477.4	-	2	1027	c.119G>C	c.(118-120)tGg>tCg	p.W40S		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	40					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TGCCGTTCCCCAGTAAATTTT	0.468																																																	0													384	378	380					1																	33276597		2203	4300	6503	SO:0001583	missense	0			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.119G>C	1.37:g.33276597C>G	ENSP00000362576:p.Trp40Ser		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase	p.W40S	ENST00000373477.4	37	c.119	CCDS368.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750885	0.89753	.	.	ENSG00000134684	ENST00000373477	T	0.69926	-0.44	5.54	5.54	0.83059	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89923	0.4060	10	0.52906	T	0.07	-7.9056	19.8761	0.96870	0.0:1.0:0.0:0.0	.	40	P54577	SYYC_HUMAN	S	40	ENSP00000362576:W40S	ENSP00000362576:W40S	W	-	2	0	YARS	33049184	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.463000	0.80869	2.774000	0.95407	0.650000	0.86243	TGG	YARS	-	pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-ligase	ENSG00000134684		0.468	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	HGNC	protein_coding	OTTHUMT00000011225.1	-	0	38	0	C	NM_003680		33276597	-1	tier1	-	no_errors	ENST00000373477	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	G	G	33276597	C	G	33276597	3	3	163	1	0	0	0	0	1	0	0	0	17516	595	21	5	1515	5	YARS	1	33276597	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	494236	33276597	215974024	10	41215											
DLGAP3	58512	genome.wustl.edu	37	chr1	35370007	35370007	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggcacttcgcttgacCgactgtccatccagtgacat	8	10	9	14	2	0	2	0	2	0	0	3	3	2	2	4	1	1	2	4	1	0	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:35370007C>T	ENST00000373347.1	-	3	1246	c.978G>A	c.(976-978)tcG>tcA	p.S326S	DLGAP3_ENST00000235180.4_Silent_p.S326S|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	326					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.S326S(1)		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)				TTCGCTTGACCGACTGTCCAT	0.662																																																	1	Substitution - coding silent(1)	endometrium(1)											47	48	48					1																	35370007		2203	4300	6503	SO:0001819	synonymous_variant	0			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.978G>A	1.37:g.35370007C>T			Q5TDD5|Q9H3X7	Silent	SNP	pfam_GKAP	p.S326	ENST00000373347.1	37	c.978	CCDS30670.1	1																																																																																			DLGAP3	-	NULL	ENSG00000116544		0.662	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	-	0	55	0	C	NM_021234		35370007	-1	tier1	-	no_errors	ENST00000235180	ensembl	human	known	74_37	silent	14.55	47	8	SNP	0.201	T	T	35370007	C	T	35370007	2	4	163	1	0	0	0	0	0	0	0	1	4575	639	23	1		1	DLGAP3	1	35370007	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	2093410	35370007	213880614	11	41216											
EPHA10	284656	genome.wustl.edu	37	chr1	38219911	38219911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggaagccgagggcgggtCggtgggtgagcgcgcatagc	7	4	21	9	5	0	1	0	1	0	0	1	3	0	2	1	5	3	2	1	5	2	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:38219911C>T	ENST00000373048.4	-	4	981	c.982G>A	c.(982-984)Gac>Aac	p.D328N	EPHA10_ENST00000427468.2_Missense_Mutation_p.D328N|EPHA10_ENST00000446149.2_Intron|EPHA10_ENST00000540011.1_5'Flank|EPHA10_ENST00000330210.7_Intron	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	328					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)				GAGGGCGGGTCGGTGGGTGAG	0.701																																																	0													20	28	25					1																	38219911		1976	4106	6082	SO:0001583	missense	0			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.982G>A	1.37:g.38219911C>T	ENSP00000362139:p.Asp328Asn		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.D328N	ENST00000373048.4	37	c.982	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	c	34	5.402129	0.96030	.	.	ENSG00000183317	ENST00000427468;ENST00000373048	T;T	0.79845	-1.31;-1.31	3.95	3.95	0.45737	.	2.092330	0.02951	N	0.141745	D	0.92328	0.7566	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82420	-0.0466	10	0.87932	D	0	.	15.2034	0.73159	0.0:1.0:0.0:0.0	.	328	Q5JZY3	EPHAA_HUMAN	N	328	ENSP00000397746:D328N;ENSP00000362139:D328N	ENSP00000362139:D328N	D	-	1	0	EPHA10	37992498	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.644000	0.74338	2.050000	0.60909	0.487000	0.48397	GAC	EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom	ENSG00000183317		0.701	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2	-	0	160	0	C	NM_173641		38219911	-1	tier1	-	no_errors	ENST00000427468	ensembl	human	known	74_37	missense	9.15	149	15	SNP	0.999	T	T	38219911	C	T	38219911	3	4	163	1	0	0	0	0	1	0	0	0	5182	884	31	1	2100	1	EPHA10	1	38219911	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	2849904	38219911	211030710	12	41217											
HIVEP3	59269	genome.wustl.edu	37	chr1	42046256	42046256	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacagggaagtgccttttcTttcaggtaatgtcacaggca	10	12	11	8	0	3	1	2	1	1	0	3	2	3	2	1	3	1	2	1	3	2	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:42046256T>G	ENST00000372583.1	-	4	5098	c.4213A>C	c.(4213-4215)Aga>Cga	p.R1405R	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Silent_p.R1405R|HIVEP3_ENST00000429157.2_Silent_p.R1405R|HIVEP3_ENST00000372584.1_Silent_p.R1405R	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1405					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)				GTGCCTTTTCTTTCAGGTAAT	0.527																																																	0													115	105	109					1																	42046256		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4213A>C	1.37:g.42046256T>G			A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1405	ENST00000372583.1	37	c.4213	CCDS463.1	1																																																																																			HIVEP3	-	NULL	ENSG00000127124		0.527	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0	27	0	T	NM_024503		42046256	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	silent	33.33	16	8	SNP	0.757	G	G	42046256	T	G	42046256	2	3	163	1	0	0	0	0	0	0	0	1	7215	1617	56	4		4	HIVEP3	1	42046256	Silent	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	3826345	42046256	207204365	13	41218											
BSND	7809	genome.wustl.edu	37	chr1	55474127	55474127	+	Silent	SNP	G	G	T	0	0	1	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	cagcagtgggaaatagccctGcccaacaactggcagcggta	12	5	12	12	1	0	0	0	0	0	0	0	1	0	1	2	3	6	3	2	3	5	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:55474127G>T	ENST00000371265.4	+	4	1043	c.789G>T	c.(787-789)ctG>ctT	p.L263L		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	263					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						AAATAGCCCTGCCCAACAACT	0.592																																					Ovarian(191;1657 2078 22894 42033 48899)												0													60	59	60					1																	55474127		2203	4300	6503	SO:0001819	synonymous_variant	0			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.789G>T	1.37:g.55474127G>T			Q6NT28	Silent	SNP	NULL	p.L263	ENST00000371265.4	37	c.789	CCDS602.1	1																																																																																			BSND	-	NULL	ENSG00000162399		0.592	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSND	HGNC	protein_coding	OTTHUMT00000022213.4		0	94	0	G	NM_057176		55474127	1			no_errors	ENST00000371265	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.402	T	T	55474127	G	T	55474127	2	4	163	1	0	0	0	0	0	0	0	1	1535	1306	46	3		3	BSND	1	55474127	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	13427871	55474127	193776494	14	41219											
DNAJC6	9829	genome.wustl.edu	37	chr1	65852544	65852544	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcattcccttgaacatcactGtgcaaggagacgtggttgtt	9	13	10	9	1	2	2	2	1	0	1	3	3	3	2	1	2	2	3	1	2	2	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:65852544G>T	ENST00000395325.3	+	8	1031	c.874G>T	c.(874-876)Gtg>Ttg	p.V292L	DNAJC6_ENST00000371069.4_Missense_Mutation_p.V349L|DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000263441.7_Missense_Mutation_p.V279L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	292	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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						GAACATCACTGTGCAAGGAGA	0.413																																																	0													145	121	129					1																	65852544		2203	4300	6503	SO:0001583	missense	0			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.874G>T	1.37:g.65852544G>T	ENSP00000378735:p.Val292Leu		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.V349L	ENST00000395325.3	37	c.1045	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130056	0.77549	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.83992	-1.79;-1.79;-1.79	4.35	4.35	0.52113	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.136292	0.48767	D	0.000175	T	0.75309	0.3832	L	0.31294	0.92	0.58432	D	0.999996	P;P;D	0.54772	0.949;0.926;0.968	P;P;P	0.54499	0.538;0.668;0.754	T	0.72364	-0.4316	10	0.14252	T	0.57	.	17.4275	0.87530	0.0:0.0:1.0:0.0	.	349;292;279	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	L	279;292;349	ENSP00000263441:V279L;ENSP00000378735:V292L;ENSP00000360108:V349L	ENSP00000263441:V279L	V	+	1	0	DNAJC6	65625132	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.151000	0.94674	2.410000	0.81850	0.557000	0.71058	GTG	DNAJC6	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom	ENSG00000116675		0.413	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	-	0	51	0	G			65852544	1	tier1	-	no_errors	ENST00000371069	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.996	T	T	65852544	G	T	65852544	3	4	163	1	0	0	0	0	1	0	0	0	4667	1377	48	3	904	3	DNAJC6	1	65852544	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	10378417	65852544	183398077	15	41220											
LRRC40	55631	genome.wustl.edu	37	chr1	70616844	70616844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattgatcgtttgcagtcttAccagtgattccatttcttct	7	18	7	9	1	3	2	0	2	3	0	5	3	4	2	2	0	2	2	2	0	1	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:70616844A>G	ENST00000370952.3	-	13	1563	c.1484T>C	c.(1483-1485)gTa>gCa	p.V495A		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	495						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						TTGCAGTCTTACCAGTGATTC	0.289																																																	0													56	57	57					1																	70616844		2200	4293	6493	SO:0001583	missense	0				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.1484T>C	1.37:g.70616844A>G	ENSP00000359990:p.Val495Ala		Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V495A	ENST00000370952.3	37	c.1484	CCDS646.1	1	.	.	.	.	.	.	.	.	.	.	A	2.895	-0.228807	0.06022	.	.	ENSG00000066557	ENST00000370952	T	0.52526	0.66	5.74	-0.528	0.11905	.	0.691515	0.14833	N	0.295736	T	0.06735	0.0172	N	0.16368	0.405	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.29822	-0.9999	10	0.08599	T	0.76	.	1.2103	0.01903	0.2687:0.2086:0.3332:0.1894	.	495	Q9H9A6	LRC40_HUMAN	A	495	ENSP00000359990:V495A	ENSP00000359990:V495A	V	-	2	0	LRRC40	70389432	0.218000	0.23608	0.582000	0.28627	0.527000	0.34593	0.047000	0.14056	0.289000	0.22422	0.533000	0.62120	GTA	LRRC40	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000066557		0.289	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC40	HGNC	protein_coding	OTTHUMT00000025914.1	-	0	61	0	A	NM_017768		70616844	-1	tier1	-	no_errors	ENST00000370952	ensembl	human	known	74_37	missense	11.11	56	7	SNP	0.451	G	G	70616844	A	G	70616844	3	3	163	1	0	0	0	0	1	0	0	0	9033	391	14	4	336	4	LRRC40	1	70616844	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	4764300	70616844	178633777	16	41221											
C1orf173	127254	genome.wustl.edu	37	chr1	75086495	75086495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaactttaatttcatccCggaagtcaggattatcagaa	15	12	7	7	1	3	1	3	0	0	1	4	4	4	3	1	2	1	0	1	2	6	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:75086495C>T	ENST00000326665.5	-	8	1141	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	C1orf173_ENST00000420661.2_Missense_Mutation_p.R111Q|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		308										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						AATTTCATCCCGGAAGTCAGG	0.358																																																	0													119	116	117					1																	75086495		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.923G>A	1.37:g.75086495C>T	ENSP00000322609:p.Arg308Gln		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.R308Q	ENST00000326665.5	37	c.923	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531681	0.64972	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.25414	2.22;1.8	6.07	2.07	0.26955	.	.	.	.	.	T	0.15089	0.0364	L	0.61036	1.89	0.34661	D	0.722719	P;D	0.62365	0.681;0.991	B;P	0.45753	0.102;0.492	T	0.04017	-1.0984	9	0.62326	D	0.03	-0.7901	8.098	0.30840	0.0:0.6932:0.1146:0.1922	.	111;308	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	Q	308;111	ENSP00000322609:R308Q;ENSP00000398581:R111Q	ENSP00000322609:R308Q	R	-	2	0	C1orf173	74859083	0.056000	0.20664	0.609000	0.28983	0.988000	0.76386	0.793000	0.26944	0.133000	0.18654	0.655000	0.94253	CGG	C1orf173	-	NULL	ENSG00000178965		0.358	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0	57	0	C			75086495	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.982	T	T	75086495	C	T	75086495	3	4	163	1	0	0	0	0	1	0	0	0	2021	652	23	1	3697	1	C1orf173	1	75086495	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	4469651	75086495	174164126	17	41222											
TTLL7	79739	genome.wustl.edu	37	chr1	84356015	84356015	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcttaccctgaatcacaGaaacagttccacagcccttg	13	8	7	13	0	1	3	1	1	0	2	2	3	2	3	3	0	4	2	3	0	3	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:84356015G>A	ENST00000260505.8	-	19	2735	c.2358C>T	c.(2356-2358)ttC>ttT	p.F786F	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	786					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CTGAATCACAGAAACAGTTCC	0.353																																																	0													53	57	56					1																	84356015		2203	4300	6503	SO:0001819	synonymous_variant	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2358C>T	1.37:g.84356015G>A			Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Silent	SNP	pfam_TTL/TTLL_fam	p.F786	ENST00000260505.8	37	c.2358	CCDS690.2	1																																																																																			TTLL7	-	NULL	ENSG00000137941		0.353	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	-	0	115	0	G	NM_024686		84356015	-1	tier1	-	no_errors	ENST00000260505	ensembl	human	known	74_37	silent	14.08	61	10	SNP	1.000	A	A	84356015	G	A	84356015	2	1	163	1	0	0	0	0	0	0	0	1	16781	933	33	3		3	TTLL7	1	84356015	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	9269520	84356015	164894606	18	41223											
AGL	178	genome.wustl.edu	37	chr1	100382219	100382219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttccagattgatgggcccGgagactactgcaaagactat	11	11	10	9	1	0	4	0	1	0	3	1	5	1	4	2	2	2	1	2	2	3	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:100382219G>A	ENST00000294724.4	+	33	4891	c.4413G>A	c.(4411-4413)ccG>ccA	p.P1471P	AGL_ENST00000361302.3_Silent_p.P1455P|AGL_ENST00000361915.3_Silent_p.P1471P|AGL_ENST00000370163.3_Silent_p.P1471P|AGL_ENST00000361522.4_Silent_p.P1454P|AGL_ENST00000370165.3_Silent_p.P1471P|AGL_ENST00000370161.2_Silent_p.P1455P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1471					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)		TGATGGGCCCGGAGACTACTG	0.353																																																	0													83	88	86					1																	100382219		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4413G>A	1.37:g.100382219G>A			A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.P1471	ENST00000294724.4	37	c.4413	CCDS759.1	1																																																																																			AGL	-	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met	ENSG00000162688		0.353	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	-	0	66	0	G	NM_000028		100382219	1	tier1	-	no_errors	ENST00000294724	ensembl	human	known	74_37	silent	28.57	35	14	SNP	0.686	A	A	100382219	G	A	100382219	2	1	163	1	0	0	0	0	0	0	0	1	384	1103	39	1		1	AGL	1	100382219	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	16026204	100382219	148868402	19	41224											
STXBP3	6814	genome.wustl.edu	37	chr1	109339310	109339310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaatgagagtgacatgattCgtaactggagttaccttggt	13	12	11	5	1	0	3	0	3	0	1	1	5	0	4	1	2	2	2	1	2	4	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:109339310C>T	ENST00000370008.3	+	15	1368	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	440					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TGACATGATTCGTAACTGGAG	0.338																																																	0													155	149	151					1																	109339310		2203	4300	6503	SO:0001583	missense	0			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1318C>T	1.37:g.109339310C>T	ENSP00000359025:p.Arg440Cys		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.R440C	ENST00000370008.3	37	c.1318	CCDS790.1	1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697081	0.68386	.	.	ENSG00000116266	ENST00000370008	T	0.77229	-1.08	5.44	5.44	0.79542	.	0.340848	0.31438	N	0.007644	T	0.70945	0.3282	L	0.52905	1.665	0.45046	D	0.998066	P	0.50710	0.938	P	0.47376	0.545	T	0.75994	-0.3121	10	0.62326	D	0.03	-4.5301	12.3971	0.55391	0.2837:0.7163:0.0:0.0	.	440	O00186	STXB3_HUMAN	C	440	ENSP00000359025:R440C	ENSP00000359025:R440C	R	+	1	0	STXBP3	109140833	0.912000	0.30974	1.000000	0.80357	0.994000	0.84299	1.849000	0.39318	2.548000	0.85928	0.467000	0.42956	CGT	STXBP3	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000116266		0.338	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1	-	0	55	0	C	NM_007269		109339310	1	tier1	-	no_errors	ENST00000370008	ensembl	human	known	74_37	missense	26.15	48	17	SNP	0.983	T	T	109339310	C	T	109339310	3	4	163	1	0	0	0	0	1	0	0	0	15401	884	31	1	1376	1	STXBP3	1	109339310	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	8957091	109339310	139911311	20	41225											
ATXN7L2	127002	genome.wustl.edu	37	chr1	110033883	110033883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggacggggtggaggtggaGgccccttctcgaaagcggaa	10	5	18	8	3	1	0	0	0	1	0	2	5	1	4	2	8	1	0	2	8	3	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:110033883G>T	ENST00000369870.3	+	10	1713	c.1698G>T	c.(1696-1698)gaG>gaT	p.E566D	CYB561D1_ENST00000369868.3_5'Flank|CYB561D1_ENST00000430195.2_5'Flank|CYB561D1_ENST00000527072.1_5'Flank|CYB561D1_ENST00000528785.1_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000420578.2_5'Flank|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000393709.3_5'Flank|CYB561D1_ENST00000533024.1_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	566										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)		TGGAGGTGGAGGCCCCTTCTC	0.607																																																	0													61	67	65					1																	110033883		2203	4300	6503	SO:0001583	missense	0			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.1698G>T	1.37:g.110033883G>T	ENSP00000358886:p.Glu566Asp			Missense_Mutation	SNP	pfam_SCA7_dom	p.E566D	ENST00000369870.3	37	c.1698	CCDS30794.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.12|14.12	2.440705|2.440705	0.43326|0.43326	.|.	.|.	ENSG00000162650|ENSG00000162650	ENST00000369870;ENST00000369869|ENST00000541125	T|.	0.34859|.	1.34|.	5.23|5.23	2.38|2.38	0.29361|0.29361	.|.	0.000000|.	0.51477|.	D|.	0.000097|.	T|T	0.15219|0.15219	0.0367|0.0367	N|N	0.19112|0.19112	0.55|0.55	0.28359|0.28359	N|N	0.920553|0.920553	D;D|.	0.61697|.	0.99;0.984|.	D;D|.	0.72982|.	0.979;0.956|.	T|T	0.12426|0.12426	-1.0548|-1.0548	10|6	0.87932|0.87932	D|D	0|0	-18.6319|-18.6319	8.0546|8.0546	0.30598|0.30598	0.2551:0.0:0.7449:0.0|0.2551:0.0:0.7449:0.0	.|.	193;566|.	Q5T6C4;Q5T6C5|.	.;AT7L2_HUMAN|.	D|C	566;193|566	ENSP00000358886:E566D|.	ENSP00000358885:E193D|ENSP00000442752:G566C	E|G	+|+	3|1	2|0	ATXN7L2|ATXN7L2	109835406|109835406	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.807000|0.807000	0.45602|0.45602	1.199000|1.199000	0.32235|0.32235	0.375000|0.375000	0.24679|0.24679	-0.379000|-0.379000	0.06801|0.06801	GAG|GGC	ATXN7L2	-	NULL	ENSG00000162650		0.607	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	-	0	72	0	G	NM_153340		110033883	1	tier1	-	no_errors	ENST00000369870	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	110033883	G	T	110033883	3	4	163	1	0	0	0	0	1	0	0	0	1218	991	35	3	1736	3	ATXN7L2	1	110033883	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	694573	110033883	139216738	21	41226											
DDX20	11218	genome.wustl.edu	37	chr1	112302086	112302086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctgttattacagccattgGaataaaaatggaaggcttag	14	13	9	5	0	1	0	0	0	1	0	1	2	1	2	1	3	2	2	1	3	8	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:112302086G>T	ENST00000369702.4	+	3	1081	c.461G>T	c.(460-462)gGa>gTa	p.G154V	DDX20_ENST00000475700.1_5'Flank|DDX20_ENST00000536167.1_Intron	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	154	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)		ACAGCCATTGGAATAAAAATG	0.353																																																	0													109	105	106					1																	112302086		2203	4300	6503	SO:0001583	missense	0			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.461G>T	1.37:g.112302086G>T	ENSP00000358716:p.Gly154Val		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G154V	ENST00000369702.4	37	c.461	CCDS842.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482752	0.84747	.	.	ENSG00000064703	ENST00000369702	T	0.04706	3.57	4.97	4.97	0.65823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.14227	0.0344	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01062	-1.1464	10	0.87932	D	0	-42.2447	17.8201	0.88648	0.0:0.0:1.0:0.0	.	154	Q9UHI6	DDX20_HUMAN	V	154	ENSP00000358716:G154V	ENSP00000358716:G154V	G	+	2	0	DDX20	112103609	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.334000	0.96470	2.299000	0.77371	0.591000	0.81541	GGA	DDX20	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000064703		0.353	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX20	HGNC	protein_coding	OTTHUMT00000033063.2	-	0	68	0	G	NM_007204		112302086	1	tier1	-	no_errors	ENST00000369702	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	112302086	G	T	112302086	3	4	163	1	0	0	0	0	1	0	0	0	4357	1174	41	3	471	3	DDX20	1	112302086	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2268203	112302086	136948535	22	41227											
CADM3	57863	genome.wustl.edu	37	chr1	159162383	159162383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcccttcgagataatcGaattcagctggttacctcta	10	11	7	13	2	2	1	1	0	1	1	4	3	2	1	3	1	3	2	3	1	4	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:159162383G>T	ENST00000368125.4	+	3	402	c.245G>T	c.(244-246)cGa>cTa	p.R82L	CADM3_ENST00000368124.4_Missense_Mutation_p.R116L	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	82	Ig-like V-type.				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)					CGAGATAATCGAATTCAGCTG	0.512																																																	0													121	107	112					1																	159162383		2203	4300	6503	SO:0001583	missense	0			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.245G>T	1.37:g.159162383G>T	ENSP00000357107:p.Arg82Leu		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.R116L	ENST00000368125.4	37	c.347	CCDS44251.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957550	0.92726	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	D;D;D	0.88046	-2.33;-2.33;-2.33	5.22	5.22	0.72569	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.94324	0.8176	M	0.91038	3.17	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	D	0.95003	0.8145	10	0.87932	D	0	.	16.3396	0.83078	0.0:0.0:1.0:0.0	.	82;82;116	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	L	116;82;82	ENSP00000357106:R116L;ENSP00000357107:R82L;ENSP00000387802:R82L	ENSP00000357106:R116L	R	+	2	0	CADM3	157429007	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.043000	0.93799	2.708000	0.92522	0.650000	0.86243	CGA	CADM3	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000162706		0.512	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	HGNC	protein_coding	OTTHUMT00000090330.1		0	48	0	G	NM_021189		159162383	1			no_errors	ENST00000368124	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	159162383	G	T	159162383	3	4	163	1	0	0	0	0	1	0	0	0	2575	1058	37	2	361	2	CADM3	1	159162383	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	46860297	159162383	90088238	23	41228											
ALDH9A1	223	genome.wustl.edu	37	chr1	165638177	165638177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatacttaatacacaaggtCtcatgtaatatccatccttt	14	14	3	10	0	1	0	1	0	1	0	4	0	3	0	2	1	2	1	2	1	6	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:165638177C>T	ENST00000354775.4	-	8	1497	c.1193G>A	c.(1192-1194)aGa>aAa	p.R398K	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.R304K	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	374					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TACACAAGGTCTCATGTAATA	0.303																																					Ovarian(179;1583 2014 18106 33801 42447)												0													109	114	112					1																	165638177		2203	4300	6503	SO:0001583	missense	0			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.1193G>A	1.37:g.165638177C>T	ENSP00000346827:p.Arg398Lys		B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.R398K	ENST00000354775.4	37	c.1193	CCDS1250.2	1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546104	0.45383	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	T;T	0.75154	-0.91;-0.91	4.78	-2.54	0.06307	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.502277	0.22531	N	0.058849	T	0.34832	0.0911	N	0.25245	0.725	0.09310	N	0.999991	B;B;B;B	0.17852	0.004;0.024;0.017;0.024	B;B;B;B	0.25987	0.026;0.065;0.05;0.05	T	0.04693	-1.0933	9	0.39692	T	0.17	.	5.891	0.18913	0.0:0.3255:0.4136:0.2609	.	304;388;374;398	B4DYY1;B4DX14;P49189;B9EKV4	.;.;AL9A1_HUMAN;.	K	398;304	ENSP00000346827:R398K;ENSP00000440026:R304K	ENSP00000346827:R398K	R	-	2	0	ALDH9A1	163904801	0.001000	0.12720	0.975000	0.42487	0.963000	0.63663	0.072000	0.14617	-0.502000	0.06596	-0.233000	0.12211	AGA	ALDH9A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000143149		0.303	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	HGNC	protein_coding	OTTHUMT00000083899.1	-	0	42	0	C			165638177	-1	tier1	-	no_errors	ENST00000354775	ensembl	human	known	74_37	missense	18.75	26	6	SNP	0.888	T	T	165638177	C	T	165638177	3	4	163	1	0	0	0	0	1	0	0	0	506	913	32	3	379	3	ALDH9A1	1	165638177	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	6475794	165638177	83612444	24	41229											
C1orf129	80133	genome.wustl.edu	37	chr1	170993634	170993634	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaatgatgtggttctagaAggcttggtgcccctaatcct	8	13	12	8	0	1	3	0	2	1	1	2	3	2	3	3	3	1	2	3	3	4	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:170993634A>C	ENST00000367759.4	+	18	2161	c.2007A>C	c.(2005-2007)gaA>gaC	p.E669D		NM_001163629.1	NP_001157101.1	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	0																	TGGTTCTAGAAGGCTTGGTGC	0.373																																																	0													320	282	294					1																	170993634		692	1591	2283	SO:0001583	missense	0			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.2007A>C	1.37:g.170993634A>C	ENSP00000356733:p.Glu669Asp		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E669D	ENST00000367759.4	37	c.2007	CCDS53429.1	1	.	.	.	.	.	.	.	.	.	.	A	3.354	-0.131847	0.06753	.	.	ENSG00000117501	ENST00000367759	T	0.66638	-0.22	5.91	2.18	0.27775	.	.	.	.	.	T	0.16642	0.0400	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.22068	-1.0227	9	0.20046	T	0.44	.	2.5269	0.04693	0.611:0.1572:0.0813:0.1505	.	669	F5GWX6	.	D	669	ENSP00000356733:E669D	ENSP00000356733:E669D	E	+	3	2	C1orf129	169260258	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.769000	0.26604	0.105000	0.17753	0.533000	0.62120	GAA	MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.373	MROH9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH9	HGNC	protein_coding		-	0	101	0	A	NM_025063		170993634	1	tier1	-	no_errors	ENST00000367759	ensembl	human	known	74_37	missense	21.69	65	18	SNP	0.000	C	C	170993634	A	C	170993634	3	2	163	1	0	0	0	0	1	0	0	0	2003	69	3	4	2199	4	C1orf129	1	170993634	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	5355457	170993634	78256987	25	41230											
TNR	7143	genome.wustl.edu	37	chr1	175323593	175323593	+	Missense_Mutation	SNP	T	T	G	0	1	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	tgctgcctgcaggagcaccgTgtagtctgtgttctccaaca	7	11	11	12	1	2	0	0	0	2	0	3	1	2	1	3	1	5	5	3	1	2	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:175323593T>G	ENST00000367674.2	-	18	4024	c.3316A>C	c.(3316-3318)Acg>Ccg	p.T1106P	TNR_ENST00000263525.2_Missense_Mutation_p.T1106P			Q92752	TENR_HUMAN	tenascin R	1106	Fibronectin type-III 9. {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)					AGGAGCACCGTGTAGTCTGTG	0.557																																																	0													187	149	162					1																	175323593		2203	4300	6503	SO:0001583	missense	0			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.3316A>C	1.37:g.175323593T>G	ENSP00000356646:p.Thr1106Pro		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.T1106P	ENST00000367674.2	37	c.3316	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248730	0.80024	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.59638	0.25;0.25	5.3	4.17	0.49024	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.114167	0.64402	D	0.000016	T	0.69762	0.3147	M	0.72624	2.21	0.54753	D	0.999987	D	0.57899	0.981	D	0.64144	0.922	T	0.67496	-0.5656	10	0.34782	T	0.22	.	10.7142	0.46002	0.0:0.0756:0.0:0.9244	.	1106	Q92752	TENR_HUMAN	P	1106;1106;1016	ENSP00000356646:T1106P;ENSP00000263525:T1106P	ENSP00000263525:T1106P	T	-	1	0	TNR	173590216	1.000000	0.71417	0.960000	0.40013	0.980000	0.70556	7.587000	0.82613	0.859000	0.35456	0.528000	0.53228	ACG	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0	47	0	T	NM_003285		175323593	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	G	G	175323593	T	G	175323593	3	3	163	1	0	0	0	0	1	0	0	0	16385	1696	59	4	784	4	TNR	1	175323593	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	4329959	175323593	73927028	26	41231											
PAPPA2	60676	genome.wustl.edu	37	chr1	176526097	176526097	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgggcagggagactcCggtatctcttcacatttcca	10	10	11	10	1	2	2	1	0	1	2	5	4	4	2	2	3	0	2	2	3	2	3	rs371392086		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:176526097C>T	ENST00000367662.3	+	2	1803	c.639C>T	c.(637-639)tcC>tcT	p.S213S	PAPPA2_ENST00000367661.3_Silent_p.S213S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	213					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						AGGGAGACTCCGGTATCTCTT	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		14145	0		0	False		,,,				2504	0																0								C	,	1,3983		0,1,1991	91	98	96		639,639	-5.1	0	1		96	0,8302		0,0,4151	no	coding-synonymous,coding-synonymous	PAPPA2	NM_020318.2,NM_021936.2	,	0,1,6142	TT,TC,CC		0.0,0.0251,0.0081	,	213/1792,213/828	176526097	1,12285	1992	4151	6143	SO:0001819	synonymous_variant	0			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.639C>T	1.37:g.176526097C>T			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.S213	ENST00000367662.3	37	c.639	CCDS41438.1	1																																																																																			PAPPA2	-	superfamily_ConA-like_lec_gl_sf	ENSG00000116183		0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	25	0	C			176526097	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	silent	57.14	3	4	SNP	0.000	T	T	176526097	C	T	176526097	2	4	163	1	0	0	0	0	0	0	0	1	11472	639	23	1		1	PAPPA2	1	176526097	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	1202504	176526097	72724524	27	41232											
TOR1AIP1	26092	genome.wustl.edu	37	chr1	179886640	179886640	+	Silent	SNP	C	C	T	0	0	0	1	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	tcaagaggaaccggtggtggCtacttcctctgatagctgct	8	11	12	10	1	2	2	1	1	1	1	3	3	3	3	2	4	4	3	2	4	4	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:179886640C>T	ENST00000606911.2	+	10	1209	c.1018C>T	c.(1018-1020)Cta>Tta	p.L340L	TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000528443.2_Silent_p.L341L|TOR1AIP1_ENST00000435319.4_Silent_p.L219L|TOR1AIP1_ENST00000271583.3_Silent_p.L356L			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	340					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CCGGTGGTGGCTACTTCCTCT	0.428																																																	0													153	168	163					1																	179886640		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1018C>T	1.37:g.179886640C>T			A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Silent	SNP	pfam_Lamina-ass_polypeptide_CLAP1C	p.L341	ENST00000606911.2	37	c.1021	CCDS1335.1	1																																																																																			TOR1AIP1	-	pfam_Lamina-ass_polypeptide_CLAP1C	ENSG00000143337		0.428	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOR1AIP1	HGNC	protein_coding	OTTHUMT00000100313.4		0	33	0	C	NM_015602		179886640	1			no_errors	ENST00000528443	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.014	T	T	179886640	C	T	179886640	2	4	163	1	0	0	0	0	0	0	0	1	16420	796	28	3		3	TOR1AIP1	1	179886640	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	3360543	179886640	69363981	28	41233											
NAV1	89796	genome.wustl.edu	37	chr1	201618242	201618242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcactcgctcttccaggCcaagggcagcccggcgggcg	6	4	16	15	4	1	0	0	0	1	0	3	1	2	1	3	5	2	3	3	5	1	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:201618242C>A	ENST00000367296.4	+	1	866	c.446C>A	c.(445-447)gCc>gAc	p.A149D	NAV1_ENST00000367297.4_Missense_Mutation_p.A149D|NAV1_ENST00000367300.3_Missense_Mutation_p.A149D|NAV1_ENST00000367302.1_Missense_Mutation_p.A162D|NAV1_ENST00000295624.6_Missense_Mutation_p.A149D	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	149					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						CTCTTCCAGGCCAAGGGCAGC	0.687																																																	0													29	32	31					1																	201618242		2201	4298	6499	SO:0001583	missense	0			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.446C>A	1.37:g.201618242C>A	ENSP00000356265:p.Ala149Asp		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A149D	ENST00000367296.4	37	c.446	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697227	0.48202	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.89	4.89	0.63831	.	0.240256	0.34314	N	0.004080	T	0.22513	0.0543	N	0.08118	0	0.26255	N	0.978661	B	0.16603	0.018	B	0.22880	0.042	T	0.08848	-1.0702	10	0.56958	D	0.05	-12.9535	7.0835	0.25244	0.0:0.7309:0.176:0.0931	.	149	Q8NEY1-3	.	D	162;149;149;149;149	ENSP00000356271:A162D;ENSP00000356265:A149D;ENSP00000295624:A149D;ENSP00000356266:A149D;ENSP00000356269:A149D	ENSP00000295624:A149D	A	+	2	0	NAV1	199884865	0.999000	0.42202	1.000000	0.80357	0.812000	0.45895	1.978000	0.40598	2.251000	0.74343	0.313000	0.20887	GCC	NAV1	-	NULL	ENSG00000134369		0.687	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1		0	46	0	C	NM_020443		201618242	1			no_errors	ENST00000367296	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	A	A	201618242	C	A	201618242	3	1	163	1	0	0	0	0	1	0	0	0	10221	739	26	3	448	3	NAV1	1	201618242	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	21731602	201618242	47632379	29	41234											
OBSCN	84033	genome.wustl.edu	37	chr1	228548224	228548224	+	Intron	SNP	T	T	G	0	1	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	gtcaccaccgggaccccaggTccgtagccttgagggcacct	7	6	12	16	2	1	1	1	1	0	0	2	2	2	2	7	3	1	2	7	3	1	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:228548224T>G	ENST00000422127.1	+	80	18705				OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.V6544G|OBSCN_ENST00000366709.4_Missense_Mutation_p.V3663G	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)				GGACCCCAGGTCCGTAGCCTT	0.701																																																	0													17	22	20					1																	228548224		1976	4147	6123	SO:0001627	intron_variant	0			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.18662-2053T>G	1.37:g.228548224T>G			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain	p.V3663G	ENST00000422127.1	37	c.10988	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.919638	0.33908	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.56103	0.48;0.62	4.58	-9.16	0.00694	.	.	.	.	.	T	0.27349	0.0671	L	0.31294	0.92	0.27258	N	0.958691	B	0.09022	0.002	B	0.08055	0.003	T	0.07597	-1.0764	9	0.19147	T	0.46	.	1.9115	0.03288	0.2425:0.3571:0.2424:0.158	.	6544	Q5VST9-3	.	G	6544;3663	ENSP00000284548:V6544G;ENSP00000355670:V3663G	ENSP00000284548:V6544G	V	+	2	0	OBSCN	226614847	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.612000	0.05616	-3.729000	0.00114	-0.462000	0.05337	GTC	OBSCN	-	NULL	ENSG00000154358		0.701	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	29	0	T	NM_052843		228548224	1	tier1	-	no_errors	ENST00000366709	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.000	G	G	228548224	T	G	228548224	1	3	163	0	1	0	0	0	0	0	0	0	10851	1667	58	4		4	OBSCN	1	228548224	Intron	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	26929982	228548224	20702397	30	41235											
TRIM11	81559	genome.wustl.edu	37	chr1	228582443	228582443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccccggacccacctttcGgccggcagatagtcatcggg	6	8	12	15	4	1	1	1	0	0	1	4	2	2	2	5	4	0	1	5	4	1	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:228582443G>A	ENST00000284551.6	-	6	1648	c.1370C>T	c.(1369-1371)cCg>cTg	p.P457L	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000493030.2_Missense_Mutation_p.P332L	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	457	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)				CCCACCTTTCGGCCGGCAGAT	0.647																																																	0													29	34	32					1																	228582443		2203	4299	6502	SO:0001583	missense	0			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.1370C>T	1.37:g.228582443G>A	ENSP00000284551:p.Pro457Leu		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.P457L	ENST00000284551.6	37	c.1370	CCDS31048.1	1	.	.	.	.	.	.	.	.	.	.	G	1.583	-0.531041	0.04112	.	.	ENSG00000154370	ENST00000284551	T	0.63096	-0.02	4.83	-1.83	0.07833	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	1.842390	0.02925	N	0.138507	T	0.31857	0.0810	N	0.02391	-0.57	0.09310	N	0.99999	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.43032	-0.9416	10	0.02654	T	1	.	8.8478	0.35181	0.7311:0.0:0.2689:0.0	.	456;457	Q96F44-3;Q96F44	.;TRI11_HUMAN	L	457	ENSP00000284551:P457L	ENSP00000284551:P457L	P	-	2	0	TRIM11	226649066	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.031000	0.12287	-0.126000	0.11682	0.655000	0.94253	CCG	TRIM11	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000154370		0.647	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM11	HGNC	protein_coding	OTTHUMT00000095995.3	-	0	164	0	G	NM_145214		228582443	-1	tier1	-	no_errors	ENST00000284551	ensembl	human	known	74_37	missense	14.10	67	11	SNP	0.001	A	A	228582443	G	A	228582443	3	1	163	1	0	0	0	0	1	0	0	0	16535	1116	39	1	40	1	TRIM11	1	228582443	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	34219	228582443	20668178	31	41236											
AGT	183	genome.wustl.edu	37	chr1	230839072	230839072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaaaaaaatgctgttcaGcacctgcaaagcagcagaca	17	6	7	11	0	2	1	2	0	0	1	2	1	2	1	1	0	5	6	1	0	5	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:230839072G>T	ENST00000366667.4	-	5	1487	c.1273C>A	c.(1273-1275)Ctg>Atg	p.L425M		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	425					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)		ATGCTGTTCAGCACCTGCAAA	0.572																																																	0													82	80	81					1																	230839072		2203	4300	6503	SO:0001583	missense	0			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.1273C>A	1.37:g.230839072G>T	ENSP00000355627:p.Leu425Met		Q16358|Q16359|Q96F91	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen	p.L425M	ENST00000366667.4	37	c.1273	CCDS1585.1	1	.	.	.	.	.	.	.	.	.	.	g	6.572	0.473898	0.12521	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.85773	-2.03	5.35	0.502	0.16932	Serpin domain (3);	0.514631	0.21712	N	0.070249	T	0.75265	0.3826	L	0.43757	1.38	0.33832	D	0.630323	P;P	0.37955	0.612;0.612	B;B	0.35510	0.204;0.204	T	0.73313	-0.4022	10	0.36615	T	0.2	.	7.7319	0.28791	0.0:0.1368:0.3152:0.548	.	425;425	B0ZBE2;P01019	.;ANGT_HUMAN	M	425;343	ENSP00000355627:L425M	ENSP00000355627:L425M	L	-	1	2	AGT	228905695	0.945000	0.32115	0.896000	0.35187	0.419000	0.31324	1.164000	0.31810	0.177000	0.19895	-0.301000	0.09380	CTG	AGT	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000135744		0.572	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGT	HGNC	protein_coding	OTTHUMT00000092102.1	-	0	61	0	G	NM_000029		230839072	-1	tier1	-	no_errors	ENST00000366667	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.969	T	T	230839072	G	T	230839072	3	4	163	1	0	0	0	0	1	0	0	0	399	962	34	3	188	3	AGT	1	230839072	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2256629	230839072	18411549	32	41237											
RYR2	6262	genome.wustl.edu	37	chr1	237550622	237550622	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttacacgtggatgccgcTttccagcagactctctggag	8	10	11	12	2	1	1	0	0	1	1	3	3	2	3	2	2	4	3	2	2	1	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:237550622T>C	ENST00000366574.2	+	9	935	c.618T>C	c.(616-618)gcT>gcC	p.A206A	RYR2_ENST00000542537.1_Silent_p.A190A|RYR2_ENST00000360064.6_Silent_p.A204A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	206	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)			TGGATGCCGCTTTCCAGCAGA	0.517																																																	0													113	114	114					1																	237550622		1971	4164	6135	SO:0001819	synonymous_variant	0			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.618T>C	1.37:g.237550622T>C			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A204	ENST00000366574.2	37	c.612	CCDS55691.1	1																																																																																			RYR2	-	pfam_Ins145_P3_rcpt,smart_MIR_motif	ENSG00000198626		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	28	0	T	NM_001035		237550622	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	35.00	13	7	SNP	0.990	C	C	237550622	T	C	237550622	2	2	163	1	0	0	0	0	0	0	0	1	13814	1596	56	4		4	RYR2	1	237550622	Silent	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	6711550	237550622	11699999	33	41238											
FMN2	56776	genome.wustl.edu	37	chr1	240255871	240255871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcctgccgaggctagggtCgggggccggccgatcgccga	4	4	20	13	6	0	0	0	0	0	0	2	3	0	0	5	6	1	1	5	6	1	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr1:240255871C>T	ENST00000319653.9	+	1	692	c.462C>T	c.(460-462)gtC>gtT	p.V154V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	154					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)			AGGCTAGGGTCGGGGGCCGGC	0.662																																																	0													22	27	25					1																	240255871		2203	4300	6503	SO:0001819	synonymous_variant	0			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.462C>T	1.37:g.240255871C>T			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.V154	ENST00000319653.9	37	c.462	CCDS31069.2	1																																																																																			FMN2	-	NULL	ENSG00000155816		0.662	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	58	0	C	XM_371352		240255871	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	22.86	27	8	SNP	0.005	T	T	240255871	C	T	240255871	2	4	163	1	0	0	0	0	0	0	0	1	5972	871	31	1		1	FMN2	1	240255871	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	2705249	240255871	8994750	34	41239											
TAF1B	9014	genome.wustl.edu	37	chr2	10059890	10059890	+	Frame_Shift_Del	DEL	C	C	-																															ggagtcctgaaagagaaaggCcaatcactgctgactaagaa																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:10059890delC	ENST00000263663.5	+	14	1694	c.1506delC	c.(1504-1506)ggcfs	p.G502fs	TAF1B_ENST00000396242.3_Frame_Shift_Del_p.G247fs	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	502					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)					AAGAGAAAGGCCAATCACTGC	0.383																																																	0													76	70	72					2																	10059890		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1506delC	2.37:g.10059890delC	ENSP00000263663:p.Gly502fs		B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	pfam_TF_Rrn7	p.Q503fs	ENST00000263663.5	37	c.1506	CCDS33143.1	2																																																																																			TAF1B	-	NULL	ENSG00000115750		0.383	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2		0	72	0	C	NM_005680		10059890	1	tier1		no_errors	ENST00000263663	ensembl	human	known	74_37	frame_shift_del	12.50	14	2	DEL	0.963	-	-	10059890	C	-	10059890	7	5	163	1	0	1	0	1	0	0	0	0	15567	726	26	0	1560	0	TAF1B	2	10059890	Frame_Shift_Del	DEL	C	TCGA-VR-A8EQ-01A-11D-A36J-09		10059890	233139483	35	41240											
GREB1	9687	genome.wustl.edu	37	chr2	11720943	11720943	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ataacctgttggccctgccgCgaccatcggctttaggtagc	7	10	11	13	3	0	0	0	0	0	0	1	1	0	0	4	3	3	3	4	3	3	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:11720943C>T	ENST00000381486.2	+	7	1186	c.886C>T	c.(886-888)Cga>Tga	p.R296*	GREB1_ENST00000234142.5_Nonsense_Mutation_p.R296*|GREB1_ENST00000389825.3_Nonsense_Mutation_p.R186*|GREB1_ENST00000381483.2_Nonsense_Mutation_p.R296*|GREB1_ENST00000263834.5_Nonsense_Mutation_p.R296*	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	296						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)		GGCCCTGCCGCGACCATCGGC	0.597																																					Ovarian(39;850 945 2785 23371 33093)												0													47	47	47					2																	11720943		2203	4300	6503	SO:0001587	stop_gained	0				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.886C>T	2.37:g.11720943C>T	ENSP00000370896:p.Arg296*		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase	p.R296*	ENST00000381486.2	37	c.886	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.109387	0.94292	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	.	.	.	5.57	2.39	0.29439	.	0.300127	0.26289	N	0.025227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-41.0761	7.9819	0.30188	0.6191:0.2738:0.1071:0.0	.	.	.	.	X	296;296;186;296;296	.	ENSP00000234142:R296X	R	+	1	2	GREB1	11638394	0.930000	0.31532	0.007000	0.13788	0.064000	0.16182	1.977000	0.40589	0.233000	0.21120	0.561000	0.74099	CGA	GREB1	-	NULL	ENSG00000196208		0.597	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0	67	0	C	NM_014668		11720943	1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	nonsense	20.00	28	7	SNP	0.061	T	T	11720943	C	T	11720943	4	4	163	1	0	0	0	0	0	1	0	0	6787	760	27	1	908	1	GREB1	2	11720943	Nonsense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	1661053	11720943	231478430	36	41241											
NBAS	51594	genome.wustl.edu	37	chr2	15555674	15555674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttagtttctacttacatctGgtttggaatgctgaaatatc	10	17	8	6	0	2	1	0	1	2	0	3	2	2	2	0	2	3	4	0	2	6	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:15555674G>T	ENST00000281513.5	-	25	2958	c.2933C>A	c.(2932-2934)cCa>cAa	p.P978Q	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	978					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						ACTTACATCTGGTTTGGAATG	0.338																																																	0													54	59	57					2																	15555674		2203	4299	6502	SO:0001583	missense	0			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.2933C>A	2.37:g.15555674G>T	ENSP00000281513:p.Pro978Gln		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.P978Q	ENST00000281513.5	37	c.2933	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235762	0.58886	.	.	ENSG00000151779	ENST00000281513	T	0.17213	2.29	6.17	5.29	0.74685	Secretory pathway Sec39 (1);	0.045517	0.85682	D	0.000000	T	0.34861	0.0912	L	0.45698	1.435	0.80722	D	1	D	0.56746	0.977	P	0.62298	0.9	T	0.08848	-1.0702	10	0.87932	D	0	.	17.6818	0.88246	0.0:0.1228:0.8772:0.0	.	978	A2RRP1	NBAS_HUMAN	Q	978	ENSP00000281513:P978Q	ENSP00000281513:P978Q	P	-	2	0	NBAS	15473125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	1.615000	0.50252	0.655000	0.94253	CCA	NBAS	-	pfam_Sec39	ENSG00000151779		0.338	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	-	0	165	0	G	NM_015909		15555674	-1	tier1	-	no_errors	ENST00000281513	ensembl	human	known	74_37	missense	5.68	83	5	SNP	1.000	T	T	15555674	G	T	15555674	3	4	163	1	0	0	0	0	1	0	0	0	10224	1348	47	3	4294	3	NBAS	2	15555674	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	3834731	15555674	227643699	37	41242											
GEN1	348654	genome.wustl.edu	37	chr2	17955634	17955634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatgatagaaagaaagcttGgtagcagaaactctaatcaa	19	8	8	6	0	2	4	1	1	1	3	2	4	2	4	0	1	3	3	0	1	7	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:17955634G>T	ENST00000381254.2	+	11	1382	c.1168G>T	c.(1168-1170)Ggt>Tgt	p.G390C	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.G390C	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	390					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)					AAGAAAGCTTGGTAGCAGAAA	0.343								Homologous recombination																																									0													96	104	101					2																	17955634		2203	4300	6503	SO:0001583	missense	0			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.1168G>T	2.37:g.17955634G>T	ENSP00000370653:p.Gly390Cys		Q17RS9|Q6ZN37	Missense_Mutation	SNP	pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.G390C	ENST00000381254.2	37	c.1168	CCDS1691.1	2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664792	0.88251	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	T;T;T	0.43294	0.95;0.95;1.55	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	T	0.49355	0.1552	M	0.72118	2.19	0.58432	D	0.999994	P	0.45569	0.861	B	0.42361	0.385	T	0.57046	-0.7878	10	0.62326	D	0.03	-20.4105	18.6291	0.91352	0.0:0.0:1.0:0.0	.	390	Q17RS7	GEN_HUMAN	C	390;390;161;27	ENSP00000318977:G390C;ENSP00000370653:G390C;ENSP00000431542:G161C	ENSP00000318977:G390C	G	+	1	0	GEN1	17819115	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	6.979000	0.76154	2.490000	0.84030	0.557000	0.71058	GGT	GEN1	-	NULL	ENSG00000178295		0.343	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	HGNC	protein_coding	OTTHUMT00000241661.2	-	0	84	0	G	NM_182625		17955634	1	tier1	-	no_errors	ENST00000317402	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	17955634	G	T	17955634	3	4	163	1	0	0	0	0	1	0	0	0	6361	1348	47	3	1206	3	GEN1	2	17955634	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2399960	17955634	225243739	38	41243											
CAD	790	genome.wustl.edu	37	chr2	27465570	27465570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtatcgtgtcagcctgcGctacgtggcacctcccagcc	6	8	10	17	3	1	0	1	0	0	0	3	0	2	0	5	1	4	3	5	1	2	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:27465570G>A	ENST00000403525.1	+	40	6260	c.6116G>A	c.(6115-6117)cGc>cAc	p.R2039H	CAD_ENST00000264705.4_Missense_Mutation_p.R2102H			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.R2102L(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGCCTGCGCTACGTGGCA	0.637																																																	1	Substitution - Missense(1)	lung(1)											88	79	82					2																	27465570		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6116G>A	2.37:g.27465570G>A	ENSP00000384510:p.Arg2039His		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.R2102H	ENST00000403525.1	37	c.6305		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.737930|2.737930	0.49045|0.49045	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000428460|ENST00000264705;ENST00000403525	.|D;D	.|0.99070	.|-5.39;-5.39	5.21|5.21	4.33|4.33	0.51752|0.51752	.|Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95671|0.95671	0.8592|0.8592	N|N	0.25286|0.25286	0.73|0.73	0.58432|0.58432	D|D	0.999995|0.999995	.|B;B	.|0.32653	.|0.379;0.027	.|B;B	.|0.20384	.|0.029;0.019	D|D	0.94548|0.94548	0.7751|0.7751	5|10	.|0.29301	.|T	.|0.29	-15.8494|-15.8494	12.4963|12.4963	0.55929|0.55929	0.0819:0.0:0.9181:0.0|0.0819:0.0:0.9181:0.0	.|.	.|2039;2102	.|F8VPD4;P27708	.|.;PYR1_HUMAN	T|H	138|2102;2039	.|ENSP00000264705:R2102H;ENSP00000384510:R2039H	.|ENSP00000264705:R2102H	A|R	+|+	1|2	0|0	CAD|CAD	27319074|27319074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.795000|0.795000	0.44927|0.44927	9.160000|9.160000	0.94734|0.94734	1.192000|1.192000	0.43071|0.43071	0.462000|0.462000	0.41574|0.41574	GCT|CGC	CAD	-	pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf	ENSG00000084774		0.637	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1		0	39	0	G			27465570	1			no_errors	ENST00000264705	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	A	A	27465570	G	A	27465570	3	1	163	1	0	0	0	0	1	0	0	0	2572	1087	38	1	6467	1	CAD	2	27465570	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	9509936	27465570	215733803	39	41244											
EHD3	30845	genome.wustl.edu	37	chr2	31484569	31484569	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggacttccccaatctgaAgaggatgcaggtagcgaggg	10	7	16	8	1	1	2	0	1	1	1	2	5	2	4	2	5	2	2	2	5	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:31484569A>G	ENST00000322054.5	+	5	1355	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	357					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)					CCCAATCTGAAGAGGATGCAG	0.587																																																	0													86	85	86					2																	31484569		2203	4300	6503	SO:0001583	missense	0			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.1070A>G	2.37:g.31484569A>G	ENSP00000327116:p.Lys357Arg		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.K357R	ENST00000322054.5	37	c.1070	CCDS1774.1	2	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898172	0.33535	.	.	ENSG00000013016	ENST00000322054	T	0.18016	2.24	6.04	4.88	0.63580	.	0.081118	0.85682	N	0.000000	T	0.12646	0.0307	L	0.37697	1.125	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10382	-1.0632	10	0.15066	T	0.55	-40.9297	9.7831	0.40660	0.852:0.0:0.148:0.0	.	357	Q9NZN3	EHD3_HUMAN	R	357	ENSP00000327116:K357R	ENSP00000327116:K357R	K	+	2	0	EHD3	31338073	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.310000	0.59141	1.107000	0.41642	0.459000	0.35465	AAG	EHD3	-	NULL	ENSG00000013016		0.587	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	-	0	70	0	A	NM_014600		31484569	1	tier1	-	no_errors	ENST00000322054	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	G	G	31484569	A	G	31484569	3	3	163	1	0	0	0	0	1	0	0	0	4993	72	3	4	1088	4	EHD3	2	31484569	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	4018999	31484569	211714804	40	41245											
VIT	5212	genome.wustl.edu	37	chr2	37032713	37032713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaggcttcaagacttgCgagagagtcaggaatcaaca	14	6	14	7	1	3	2	3	0	0	2	3	7	3	5	0	4	2	1	0	4	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:37032713C>T	ENST00000389975.3	+	13	1552	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	VIT_ENST00000497382.1_Missense_Mutation_p.A86V|VIT_ENST00000401530.1_Missense_Mutation_p.A396V|VIT_ENST00000404084.1_Missense_Mutation_p.A369V|VIT_ENST00000379241.3_Missense_Mutation_p.A395V|VIT_ENST00000379242.3_Missense_Mutation_p.A432V	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	417	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCAAGACTTGCGAGAGAGTCA	0.493																																																	0													118	101	107					2																	37032713		2203	4300	6503	SO:0001583	missense	0			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1250C>T	2.37:g.37032713C>T	ENSP00000374625:p.Ala417Val		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.A432V	ENST00000389975.3	37	c.1295	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	C	30	5.053932	0.93793	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.58060	0.36;0.36;1.07;0.36;0.36;1.07	5.49	5.49	0.81192	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	M	0.84511	2.7	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;0.996	T	0.75193	-0.3404	10	0.33141	T	0.24	-18.351	19.3832	0.94545	0.0:1.0:0.0:0.0	.	396;395;417;432	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	V	432;417;86;369;395;396	ENSP00000368544:A432V;ENSP00000374625:A417V;ENSP00000417874:A86V;ENSP00000384154:A369V;ENSP00000368543:A395V;ENSP00000385658:A396V	ENSP00000368543:A395V	A	+	2	0	VIT	36886217	1.000000	0.71417	0.290000	0.24890	0.976000	0.68499	7.786000	0.85741	2.569000	0.86673	0.650000	0.86243	GCG	VIT	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000205221		0.493	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		-	0	118	0	C			37032713	1	tier1	-	no_errors	ENST00000379242	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	37032713	C	T	37032713	3	4	163	1	0	0	0	0	1	0	0	0	17220	768	27	1	1470	1	VIT	2	37032713	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	5548144	37032713	206166660	41	41246											
LRRTM4	80059	genome.wustl.edu	37	chr2	77745909	77745909	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtgttgaccacctggacTtcagaacagatattatatgt	11	14	8	8	0	2	3	1	1	1	2	2	4	2	4	2	1	1	1	2	1	4	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:77745909T>G	ENST00000409093.1	-	3	1422	c.1086A>C	c.(1084-1086)gaA>gaC	p.E362D	LRRTM4_ENST00000409088.3_Missense_Mutation_p.E362D|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E363D|LRRTM4_ENST00000409282.1_Missense_Mutation_p.E363D|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E362D			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	362	LRRCT.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCACCTGGACTTCAGAACAGA	0.463																																																	0													111	106	108					2																	77745909		1901	4115	6016	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1086A>C	2.37:g.77745909T>G	ENSP00000386357:p.Glu362Asp		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E363D	ENST00000409093.1	37	c.1089	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.314700	0.00235	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.51574	0.7;0.73;0.73;0.81;0.82	5.83	0.68	0.17980	.	0.494060	0.23303	N	0.049641	T	0.15478	0.0373	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.27606	-1.0069	10	0.02654	T	1	.	4.1798	0.10369	0.2641:0.145:0.0:0.5909	.	363;362;362	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	D	363;362;362;362;363	ENSP00000387228:E363D;ENSP00000387297:E362D;ENSP00000386357:E362D;ENSP00000386236:E362D;ENSP00000386286:E363D	ENSP00000386236:E362D	E	-	3	2	LRRTM4	77599417	0.914000	0.31030	0.997000	0.53966	0.633000	0.38033	0.173000	0.16724	0.094000	0.17404	-1.157000	0.01802	GAA	LRRTM4	-	NULL	ENSG00000176204		0.463	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0	26	0	T	NM_024993		77745909	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	47.06	9	8	SNP	0.003	G	G	77745909	T	G	77745909	3	3	163	1	0	0	0	0	1	0	0	0	9077	1606	56	4	700	4	LRRTM4	2	77745909	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	40713196	77745909	165453464	42	41247											
KDM3A	55818	genome.wustl.edu	37	chr2	86716782	86716782	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataagggaatttcttaaaaaGgtgtgctgcttatggcatgt	12	14	11	4	0	1	0	0	0	1	0	1	1	1	1	0	3	2	3	0	3	6	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:86716782G>T	ENST00000409556.1	+	24	3938	c.3573G>T	c.(3571-3573)aaG>aaT	p.K1191N	KDM3A_ENST00000542128.1_Splice_Site_p.K1139N|KDM3A_ENST00000312912.5_Splice_Site_p.K1191N|KDM3A_ENST00000409064.1_Splice_Site_p.K1191N			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1191	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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						TTCTTAAAAAGGTGTGCTGCT	0.418																																					NSCLC(96;1150 1523 6936 46253 49736)												0													115	106	109					2																	86716782		2203	4300	6503	SO:0001630	splice_region_variant	0			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.3573+1G>T	2.37:g.86716782G>T			D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.K1191N	ENST00000409556.1	37	c.3573	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934411	0.92458	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.5	5.5	0.81552	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.86896	0.6043	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.992	D	0.87412	0.2376	10	0.62326	D	0.03	.	18.7421	0.91777	0.0:0.0:1.0:0.0	.	1139;1191	F5H070;Q9Y4C1	.;KDM3A_HUMAN	N	1191;1191;1191;1191;1139	ENSP00000386660:K1191N;ENSP00000323659:K1191N;ENSP00000386516:K1191N;ENSP00000438324:K1139N	ENSP00000323659:K1191N	K	+	3	2	KDM3A	86570293	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.869000	0.99810	2.740000	0.93945	0.650000	0.86243	AAG	KDM3A	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000115548		0.418	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	-	0	44	0	G	NM_018433	Missense_Mutation	86716782	1	tier1	-	no_errors	ENST00000312912	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	T	T	86716782	G	T	86716782	5	4	163	1	0	0	0	0	0	0	1	0	8153	1014	35	3	3659	3	KDM3A	2	86716782	Splice_Site	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	8970873	86716782	156482591	43	41248											
MAP4K4	9448	genome.wustl.edu	37	chr2	102448250	102448250	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacgttcataggcactccCtactggatggctcctgaggt	9	11	10	11	1	1	1	1	1	0	0	3	2	3	2	2	4	2	3	2	4	4	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:102448250C>A	ENST00000347699.4	+	7	576	c.576C>A	c.(574-576)ccC>ccA	p.P192P	MAP4K4_ENST00000425019.1_Silent_p.P192P|MAP4K4_ENST00000350878.4_Silent_p.P172P|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000324219.4_Silent_p.P192P|MAP4K4_ENST00000413150.2_Silent_p.P192P|MAP4K4_ENST00000350198.4_Silent_p.P192P|MAP4K4_ENST00000456652.1_Intron	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TAGGCACTCCCTACTGGATGG	0.527											OREG0014845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83	81	81					2																	102448250		1968	4190	6158	SO:0001819	synonymous_variant	0			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.576C>A	2.37:g.102448250C>A		1366	O75172|Q9NST7	Silent	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.P192	ENST00000347699.4	37	c.576	CCDS56130.1	2																																																																																			MAP4K4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000071054		0.527	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	-	0	126	0	C	NM_004834		102448250	1	tier1	-	no_errors	ENST00000324219	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.039	A	A	102448250	C	A	102448250	2	1	163	1	0	0	0	0	0	0	0	1	9300	668	24	3		3	MAP4K4	2	102448250	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	15731468	102448250	140751123	44	41249											
NCK2	8440	genome.wustl.edu	37	chr2	106471533	106471533	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaaagatgacagaagaagTtattgtgatagccaagtggg	16	9	13	3	0	0	6	0	3	0	3	0	6	0	6	1	1	1	1	1	1	6	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:106471533T>G	ENST00000233154.4	+	3	456	c.14T>G	c.(13-15)gTt>gGt	p.V5G	AC009505.2_ENST00000596418.1_RNA|AC009505.2_ENST00000598281.1_RNA|NCK2_ENST00000451463.2_Missense_Mutation_p.V5G|AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000522586.1_Missense_Mutation_p.V5G|NCK2_ENST00000393349.2_Missense_Mutation_p.V5G	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	5	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						ACAGAAGAAGTTATTGTGATA	0.502																																																	0													81	82	82					2																	106471533		2203	4300	6503	SO:0001583	missense	0			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.14T>G	2.37:g.106471533T>G	ENSP00000233154:p.Val5Gly		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.V5G	ENST00000233154.4	37	c.14	CCDS33266.1	2	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238331	0.58886	.	.	ENSG00000071051	ENST00000233154;ENST00000451463;ENST00000393348;ENST00000522586;ENST00000425756;ENST00000393349	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.84	5.84	0.93424	Src homology-3 domain (4);	0.058441	0.64402	D	0.000002	T	0.31167	0.0788	L	0.49126	1.545	0.80722	D	1	B;B	0.34181	0.164;0.44	B;B	0.30646	0.055;0.118	T	0.10730	-1.0617	10	0.87932	D	0	.	16.2141	0.82191	0.0:0.0:0.0:1.0	.	5;5	E7ERP6;O43639	.;NCK2_HUMAN	G	5	ENSP00000233154:V5G;ENSP00000410428:V5G;ENSP00000377017:V5G;ENSP00000431109:V5G;ENSP00000408040:V5G;ENSP00000377018:V5G	ENSP00000233154:V5G	V	+	2	0	NCK2	105837965	1.000000	0.71417	0.929000	0.37066	0.996000	0.88848	4.695000	0.61767	2.230000	0.72887	0.528000	0.53228	GTT	NCK2	-	superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain,prints_SH3_domain	ENSG00000071051		0.502	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCK2	HGNC	protein_coding	OTTHUMT00000329634.1	-	0	63	0	T	NM_003581		106471533	1	tier1	-	no_errors	ENST00000233154	ensembl	human	known	74_37	missense	22.73	34	10	SNP	0.999	G	G	106471533	T	G	106471533	3	3	163	1	0	0	0	0	1	0	0	0	10259	1725	60	4	16	4	NCK2	2	106471533	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	4023283	106471533	136727840	45	41250											
RGPD4	285190	genome.wustl.edu	37	chr2	108487761	108487761	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaccaagaatgctgatgCgaagagaacaagtactaaaa	20	5	9	7	1	0	3	0	1	0	2	0	5	0	3	1	0	5	3	1	0	9	2	rs556511922		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:108487761C>T	ENST00000408999.3	+	20	3378	c.3301C>T	c.(3301-3303)Cga>Tga	p.R1101*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.R1101*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1101	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AATGCTGATGCGAAGAGAACA	0.428													N|||	1	0.000199681	8e-04	0	5008	,	,		15728	0		0	False		,,,				2504	0																0													14	10	11					2																	108487761		689	1572	2261	SO:0001587	stop_gained	0			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.3301C>T	2.37:g.108487761C>T	ENSP00000386810:p.Arg1101*		B9A029	Nonsense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.R1101*	ENST00000408999.3	37	c.3301	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	35	5.451421	0.96205	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	.	.	.	2.33	-0.118	0.13547	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6328	8.471	0.32986	0.534:0.466:0.0:0.0	.	.	.	.	X	1101;1101;859	.	ENSP00000347081:R1101X	R	+	1	2	RGPD4	107854193	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	1.633000	0.37113	0.262000	0.21774	0.162000	0.16502	CGA	RGPD4	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000196862		0.428	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	-	0	146	0	C	XM_496581		108487761	1	tier1	-	no_errors	ENST00000354986	ensembl	human	known	74_37	nonsense	37.40	82	49	SNP	1.000	T	T	108487761	C	T	108487761	4	4	163	1	0	0	0	0	0	1	0	0	13333	760	27	1	3379	1	RGPD4	2	108487761	Nonsense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	2016228	108487761	134711612	46	41251											
DPP10	57628	genome.wustl.edu	37	chr2	116538543	116538543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccagttttagtcccatGaatcaacatttcttattatt	11	17	5	8	0	2	1	1	1	1	0	3	2	3	1	2	0	2	1	2	0	5	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:116538543G>T	ENST00000410059.1	+	16	1935	c.1455G>T	c.(1453-1455)atG>atT	p.M485I	DPP10_ENST00000409163.1_Missense_Mutation_p.M435I|DPP10_ENST00000393147.2_Missense_Mutation_p.M489I|DPP10_ENST00000310323.8_Missense_Mutation_p.M478I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	485						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						TTAGTCCCATGAATCAACATT	0.303																																																	0													102	97	99					2																	116538543		2202	4294	6496	SO:0001583	missense	0			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.1455G>T	2.37:g.116538543G>T	ENSP00000386565:p.Met485Ile		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.M489I	ENST00000410059.1	37	c.1467	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354341	0.41700	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.86	4.8	0.61643	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.291247	0.37437	N	0.002084	T	0.17492	0.0420	N	0.08118	0	0.33360	D	0.572206	B;B;B;B	0.21821	0.017;0.061;0.021;0.021	B;B;B;B	0.22152	0.006;0.038;0.011;0.011	T	0.12837	-1.0532	10	0.42905	T	0.14	-21.4297	13.1246	0.59346	0.0866:0.0:0.9134:0.0	.	478;489;481;485	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	485;435;489;478;435	ENSP00000386565:M485I;ENSP00000387038:M435I;ENSP00000376855:M489I;ENSP00000309066:M478I	ENSP00000309066:M478I	M	+	3	0	DPP10	116255013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.057000	0.41365	2.777000	0.95525	0.655000	0.94253	ATG	DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.303	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0	60	0	G	NM_020868		116538543	1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	116538543	G	T	116538543	3	4	163	1	0	0	0	0	1	0	0	0	4741	1290	45	3	1688	3	DPP10	2	116538543	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	8050782	116538543	126660830	47	41252											
DPP10	57628	genome.wustl.edu	37	chr2	116539961	116539961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggtcagcctacatagtaCggacaacccagcaagtgagt	13	7	11	10	1	1	1	1	1	0	0	1	2	1	2	2	2	5	2	2	2	5	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:116539961C>T	ENST00000410059.1	+	17	1997	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	DPP10_ENST00000409163.1_Missense_Mutation_p.T456M|DPP10_ENST00000393147.2_Missense_Mutation_p.T510M|DPP10_ENST00000310323.8_Missense_Mutation_p.T499M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	506						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						CTACATAGTACGGACAACCCA	0.343																																																	0													142	140	140					2																	116539961		2203	4300	6503	SO:0001583	missense	0			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.1517C>T	2.37:g.116539961C>T	ENSP00000386565:p.Thr506Met		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.T510M	ENST00000410059.1	37	c.1529	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052039	0.36181	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.56	5.56	0.83823	.	0.173140	0.52532	D	0.000080	T	0.49338	0.1551	M	0.80422	2.495	0.40860	D	0.983826	D;D;D;D	0.58620	0.98;0.983;0.966;0.966	P;P;P;P	0.51516	0.672;0.5;0.472;0.472	T	0.56062	-0.8041	10	0.56958	D	0.05	-12.2172	16.6941	0.85330	0.0:1.0:0.0:0.0	.	499;510;502;506	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	506;456;510;499;456	ENSP00000386565:T506M;ENSP00000387038:T456M;ENSP00000376855:T510M;ENSP00000309066:T499M	ENSP00000309066:T499M	T	+	2	0	DPP10	116256431	0.111000	0.22076	0.199000	0.23439	0.030000	0.12068	1.031000	0.30165	2.614000	0.88457	0.555000	0.69702	ACG	DPP10	-	NULL	ENSG00000175497		0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4		0	102	0	C	NM_020868		116539961	1			no_errors	ENST00000393147	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.508	T	T	116539961	C	T	116539961	3	4	163	1	0	0	0	0	1	0	0	0	4741	536	19	1	1754	1	DPP10	2	116539961	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	1418	116539961	126659412	48	41253											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125232373	125232373	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacctttttaaagaaaaacTtccatggatgcatcgaaaac	16	10	7	8	1	0	1	0	0	0	1	2	4	1	3	2	2	3	1	2	2	6	4	rs377080244		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:125232373T>G	ENST00000431078.1	+	7	1340	c.976T>G	c.(976-978)Ttc>Gtc	p.F326V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	326	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAAGAAAAACTTCCATGGATG	0.383																																																	0													55	50	52					2																	125232373		1814	4081	5895	SO:0001583	missense	0			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.976T>G	2.37:g.125232373T>G	ENSP00000399013:p.Phe326Val		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F326V	ENST00000431078.1	37	c.976	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	T	26.5	4.741892	0.89573	.	.	ENSG00000155052	ENST00000431078	D	0.90732	-2.72	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.52532	D	0.000069	D	0.96873	0.8979	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97914	1.0310	10	0.66056	D	0.02	.	15.379	0.74637	0.0:0.0:0.0:1.0	.	326	Q8WYK1	CNTP5_HUMAN	V	326	ENSP00000399013:F326V	ENSP00000399013:F326V	F	+	1	0	CNTNAP5	124948843	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.461000	0.80834	2.277000	0.76020	0.482000	0.46254	TTC	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.383	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	88	0	T			125232373	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	8.62	53	5	SNP	1.000	G	G	125232373	T	G	125232373	3	3	163	1	0	0	0	0	1	0	0	0	3657	1609	56	4	1002	4	CNTNAP5	2	125232373	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	8692412	125232373	117967000	49	41254											
LRP1B	53353	genome.wustl.edu	37	chr2	141202169	141202169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattgtctccacaatcattCtctccatcacagatgaaagc	13	11	5	12	0	4	2	2	1	2	1	7	3	5	2	2	0	1	0	2	0	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:141202169C>A	ENST00000389484.3	-	64	11108	c.10137G>T	c.(10135-10137)gaG>gaT	p.E3379D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3379	LDL-receptor class A 22. {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)	p.E3379D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAATCATTCTCTCCATCAC	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	large_intestine(1)											110	103	106					2																	141202169		2203	4300	6503	SO:0001583	missense	0			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.10137G>T	2.37:g.141202169C>A	ENSP00000374135:p.Glu3379Asp		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E3379D	ENST00000389484.3	37	c.10137	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381811	0.24944	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95518	-3.73	5.85	-1.6	0.08426	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	N	0.05534	-0.03	0.38656	D	0.951962	B	0.20550	0.046	B	0.22601	0.04	T	0.70850	-0.4760	10	0.19147	T	0.46	.	8.8089	0.34954	0.0:0.4152:0.1002:0.4846	.	3379	Q9NZR2	LRP1B_HUMAN	D	3379;3317	ENSP00000374135:E3379D	ENSP00000374135:E3379D	E	-	3	2	LRP1B	140918639	0.262000	0.24073	0.993000	0.49108	0.997000	0.91878	-0.296000	0.08287	-0.208000	0.10171	0.563000	0.77884	GAG	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	40	0	C	NM_018557		141202169	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.966	A	A	141202169	C	A	141202169	3	1	163	1	0	0	0	0	1	0	0	0	8990	912	32	3	3774	3	LRP1B	2	141202169	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	15969796	141202169	101997204	50	41255											
LRP1B	53353	genome.wustl.edu	37	chr2	141660604	141660604	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactttagatgattgctacaAtaatccacaatttcacatgt	14	14	4	9	0	1	2	1	1	0	1	2	2	2	2	1	0	2	1	1	0	5	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:141660604A>G	ENST00000389484.3	-	23	4622	c.3651T>C	c.(3649-3651)taT>taC	p.Y1217Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1217	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATTGCTACAATAATCCACAA	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													187	166	173					2																	141660604		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3651T>C	2.37:g.141660604A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.Y1217	ENST00000389484.3	37	c.3651	CCDS2182.1	2																																																																																			LRP1B	-	smart_EG-like_dom	ENSG00000168702		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	36	0	A	NM_018557		141660604	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	25.00	33	11	SNP	0.808	G	G	141660604	A	G	141660604	2	3	163	1	0	0	0	0	0	0	0	1	8990	108	4	4		4	LRP1B	2	141660604	Silent	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	458435	141660604	101538769	51	41256											
PLA2R1	22925	genome.wustl.edu	37	chr2	160901437	160901437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctgttacagcgccacCgtaaggaaacgagggtggag	10	8	13	10	3	1	0	0	0	1	0	2	3	2	2	3	3	3	2	3	3	3	3	rs373497970		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:160901437C>A	ENST00000283243.7	-	2	547	c.341G>T	c.(340-342)cGg>cTg	p.R114L	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R114L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	114	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACAGCGCCACCGTAAGGAAAC	0.522																																																	0													82	80	80					2																	160901437		2203	4300	6503	SO:0001583	missense	0			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.341G>T	2.37:g.160901437C>A	ENSP00000283243:p.Arg114Leu		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.R114L	ENST00000283243.7	37	c.341	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920850	0.33908	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.32515	1.45;1.45	6.07	1.88	0.25563	Ricin B-related lectin (1);Ricin B lectin (2);	0.392565	0.30781	N	0.008900	T	0.22627	0.0546	L	0.47716	1.5	0.37130	D	0.901226	B;P;B	0.35844	0.019;0.524;0.389	B;B;B	0.28849	0.021;0.095;0.07	T	0.09618	-1.0666	10	0.42905	T	0.14	.	10.1919	0.43032	0.0:0.7723:0.0:0.2277	.	114;114;114	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	L	114	ENSP00000283243:R114L;ENSP00000376524:R114L	ENSP00000283243:R114L	R	-	2	0	PLA2R1	160609683	1.000000	0.71417	0.971000	0.41717	0.187000	0.23431	1.606000	0.36826	0.049000	0.15920	0.655000	0.94253	CGG	PLA2R1	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000153246		0.522	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	-	0	51	0	C			160901437	-1	tier1	-	no_errors	ENST00000283243	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	A	A	160901437	C	A	160901437	3	1	163	1	0	0	0	0	1	0	0	0	12049	652	23	2	4174	2	PLA2R1	2	160901437	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	19240833	160901437	82297936	52	41257											
PLA2R1	22925	genome.wustl.edu	37	chr2	160918876	160918878	+	In_Frame_Del	DEL	CAG	CAG	-																															gcgcagccccgcggcgccccCagcagcagcagcagcagcag																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:160918876_160918878delCAG	ENST00000283243.7	-	1	243_245	c.37_39delCTG	c.(37-39)ctgdel	p.L13del	PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	13					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						GCGGCGCCCCcagcagcagcagc	0.729																																																	0									,,	16,82,2566		4,0,8,17,48,1255					,,	-3.1	0			4	2,158,4972		0,1,1,22,113,2429	no	codingComplex,codingComplex,codingComplex	PLA2R1	NM_007366.4,NM_001195641.1,NM_001007267.2	,,	4,1,9,39,161,3684	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1177,3.6787,3.3094	,,	,,		18,240,7538				SO:0001651	inframe_deletion	0			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.37_39delCTG	2.37:g.160918885_160918887delCAG	ENSP00000283243:p.Leu13del		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	In_Frame_Del	DEL	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.L13in_frame_del	ENST00000283243.7	37	c.39_37	CCDS33309.1	2																																																																																			PLA2R1	-	NULL	ENSG00000153246		0.729	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1		0	41	0	CAG			160918878	-1	tier1		no_errors	ENST00000283243	ensembl	human	known	74_37	in_frame_del	10.71	25	3	DEL	0.922:0.939:0.961	-	-	160918878	CAG	-	160918876	7	5	163	1	0	1	0	1	0	0	0	0	12049	581	21	0	4480	0	PLA2R1	2	160918876	In_Frame_Del	DEL	CAG	TCGA-VR-A8EQ-01A-11D-A36J-09	17439	160918876	82280497	53	41258											
XIRP2	129446	genome.wustl.edu	37	chr2	167992572	167992572	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagccgcatctttgaaGgttagcataacattttgata	12	13	8	8	1	2	2	1	2	1	0	2	2	2	2	1	1	3	3	1	1	4	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:167992572G>T	ENST00000409728.1	+	3	651	c.562G>T	c.(562-564)Gca>Tca	p.A188S	XIRP2_ENST00000409043.1_Splice_Site_p.A188S|XIRP2_ENST00000420519.1_Splice_Site_p.A188S|XIRP2_ENST00000409195.1_Splice_Site_p.A188S|XIRP2_ENST00000295237.9_Splice_Site_p.A188S|XIRP2_ENST00000409756.2_Splice_Site_p.A188S|XIRP2-AS1_ENST00000525330.1_RNA	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	13					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)		p.?(2)		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						CATCTTTGAAGGTTAGCATAA	0.363																																																	2	Unknown(2)	lung(2)											79	78	78					2																	167992572		1880	4113	5993	SO:0001630	splice_region_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.562+1G>T	2.37:g.167992572G>T			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.A188S	ENST00000409728.1	37	c.562	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391625	0.42410	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.77489	-1.1;-1.09;4.25;-1.1;-1.09;4.25	5.51	5.51	0.81932	.	0.951251	0.08587	U	0.923659	T	0.73536	0.3599	L	0.34521	1.04	0.29641	N	0.844739	B;P;B	0.49961	0.16;0.93;0.069	B;P;B	0.44732	0.059;0.459;0.037	T	0.64546	-0.6382	10	0.13108	T	0.6	1.6483	17.6029	0.88030	0.0:0.0:1.0:0.0	.	188;188;13	A4UGR9-4;A4UGR9-6;A4UGR9-3	.;.;.	S	188	ENSP00000386454:A188S;ENSP00000386619:A188S;ENSP00000386840:A188S;ENSP00000386724:A188S;ENSP00000415541:A188S;ENSP00000295237:A188S	ENSP00000295237:A188S	A	+	1	0	XIRP2	167700818	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	6.229000	0.72294	2.597000	0.87782	0.591000	0.81541	GCG;GCA;GCG;GCG;GCA;GCG	XIRP2	-	NULL	ENSG00000163092		0.363	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1		0	46	0	G	NM_152381	Missense_Mutation	167992572	1			no_errors	ENST00000295237	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	T	T	167992572	G	T	167992572	5	4	163	1	0	0	0	0	0	0	1	0	17479	1014	35	3	568	3	XIRP2	2	167992572	Splice_Site	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	7073696	167992572	75206801	54	41259											
FASTKD1	79675	genome.wustl.edu	37	chr2	170402728	170402728	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctaccatttaaatttcacCttttcaatctgctgaacagc	11	15	4	11	0	4	1	2	1	2	0	4	1	4	1	2	0	4	1	2	0	5	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:170402728C>T	ENST00000453153.2	-	8	2047	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K	FASTKD1_ENST00000453929.2_Splice_Site_p.K567K	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	567					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						TAAATTTCACCTTTTCAATCT	0.348																																																	0													32	35	34					2																	170402728		2200	4294	6494	SO:0001630	splice_region_variant	0			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.1701+1G>A	2.37:g.170402728C>T			Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.K567	ENST00000453153.2	37	c.1701	CCDS33318.1	2																																																																																			FASTKD1	-	NULL	ENSG00000138399		0.348	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	-	0	60	0	C	NM_024622	Silent	170402728	-1	tier1	-	no_errors	ENST00000453153	ensembl	human	known	74_37	silent	19.23	21	5	SNP	1.000	T	T	170402728	C	T	170402728	5	4	163	1	0	0	0	0	0	0	1	0	5707	695	24	3	874	3	FASTKD1	2	170402728	Splice_Site	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	2410156	170402728	72796645	55	41260											
TTN	7273	genome.wustl.edu	37	chr2	179500965	179500965	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttacaaaacgcacaggaAgttctatggagaatttcagt	14	13	8	6	1	2	1	1	0	1	1	2	3	2	2	0	2	2	2	0	2	6	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:179500965A>C	ENST00000591111.1	-	176	36634	c.36410T>G	c.(36409-36411)cTt>cGt	p.L12137R	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L4905R|TTN_ENST00000359218.5_Missense_Mutation_p.L4838R|TTN_ENST00000589042.1_Missense_Mutation_p.L13778R|TTN_ENST00000342992.6_Missense_Mutation_p.L11210R|TTN_ENST00000460472.2_Missense_Mutation_p.L4713R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12137					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)			ACGCACAGGAAGTTCTATGGA	0.358																																																	0													24	22	22					2																	179500965		1856	4086	5942	SO:0001583	missense	0			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.36410T>G	2.37:g.179500965A>C	ENSP00000465570:p.Leu12137Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L11210R	ENST00000591111.1	37	c.33629		2	.	.	.	.	.	.	.	.	.	.	A	13.87	2.365260	0.41902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.05199	3.48;3.48;3.48;3.48	5.62	5.62	0.85841	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13756	0.0333	L	0.51422	1.61	0.53688	D	0.999979	P;P;P;P	0.51240	0.943;0.943;0.943;0.821	P;P;P;P	0.50440	0.641;0.641;0.641;0.641	T	0.00267	-1.1863	9	0.87932	D	0	.	15.8165	0.78604	1.0:0.0:0.0:0.0	.	4713;4838;4905;12137	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	11210;4713;4905;4838;4713	ENSP00000343764:L11210R;ENSP00000434586:L4713R;ENSP00000340554:L4905R;ENSP00000352154:L4838R	ENSP00000340554:L4905R	L	-	2	0	TTN	179209210	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.281000	0.95811	2.143000	0.66587	0.477000	0.44152	CTT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	31	0	A	NM_133378		179500965	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	44.44	10	8	SNP	1.000	C	C	179500965	A	C	179500965	3	2	163	1	0	0	0	0	1	0	0	0	16784	72	3	4	66908	4	TTN	2	179500965	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	9098237	179500965	63698408	56	41261											
TTN	7273	genome.wustl.edu	37	chr2	179602842	179602842	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgtggctgtacagctgacacTgccatactcattggaagctt	9	12	10	10	0	1	1	1	1	0	0	1	2	1	2	1	2	5	4	1	2	3	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:179602842T>C	ENST00000591111.1	-	47	13611	c.13387A>G	c.(13387-13389)Agt>Ggt	p.S4463G	TTN_ENST00000342175.6_Missense_Mutation_p.S4609G|TTN_ENST00000359218.5_Missense_Mutation_p.S4542G|TTN_ENST00000589042.1_Missense_Mutation_p.S4780G|TTN_ENST00000342992.6_Missense_Mutation_p.S3536G|TTN_ENST00000460472.2_Missense_Mutation_p.S4417G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12218	Ig-like 24.				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)			CAGCTGACACTGCCATACTCA	0.428																																																	0													69	70	70					2																	179602842		1990	4170	6160	SO:0001583	missense	0			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.13387A>G	2.37:g.179602842T>C	ENSP00000465570:p.Ser4463Gly		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S3536G	ENST00000591111.1	37	c.10606		2	.	.	.	.	.	.	.	.	.	.	T	15.55	2.865774	0.51588	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79263	0.4416	M	0.77406	2.37	0.22896	N	0.998597	D;D;D;D	0.57257	0.959;0.959;0.959;0.979	P;P;P;P	0.55508	0.652;0.652;0.652;0.777	T	0.74100	-0.3774	9	0.87932	D	0	.	16.1484	0.81586	0.0:0.0:0.0:1.0	.	4417;4542;4609;4463	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	3536;4417;4609;4542;4417	ENSP00000343764:S3536G;ENSP00000434586:S4417G;ENSP00000340554:S4609G;ENSP00000352154:S4542G	ENSP00000340554:S4609G	S	-	1	0	TTN	179311087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.742000	0.47434	2.226000	0.72624	0.459000	0.35465	AGT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	42	0	T	NM_133378		179602842	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	27.27	24	9	SNP	1.000	C	C	179602842	T	C	179602842	3	2	163	1	0	0	0	0	1	0	0	0	16784	1580	55	4	90447	4	TTN	2	179602842	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	101877	179602842	63596531	57	41262											
FSIP2	401024	genome.wustl.edu	37	chr2	186672781	186672781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagctgataatgcaactattGaaaacatagttaattctatt	16	15	5	5	0	1	2	0	2	1	0	1	2	1	2	0	0	4	3	0	0	9	9			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:186672781G>A	ENST00000424728.1	+	17	18748	c.18748G>A	c.(18748-18750)Gaa>Aaa	p.E6250K	FSIP2_ENST00000343098.5_Missense_Mutation_p.E6339K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6250										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGCAACTATTGAAAACATAGT	0.338																																																	0													38	34	35					2																	186672781		1807	4066	5873	SO:0001583	missense	0			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.18748G>A	2.37:g.186672781G>A	ENSP00000401306:p.Glu6250Lys		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.E6339K	ENST00000424728.1	37	c.19015		2	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699188	0.30142	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.54479	0.57;0.57	5.2	4.33	0.51752	.	0.248992	0.28354	N	0.015651	T	0.54078	0.1836	L	0.52011	1.625	0.31548	N	0.659052	.	.	.	.	.	.	T	0.63541	-0.6614	8	0.59425	D	0.04	.	9.5737	0.39445	0.0948:0.0:0.9052:0.0	.	.	.	.	K	6339;6250	ENSP00000344403:E6339K;ENSP00000401306:E6250K	ENSP00000344403:E6339K	E	+	1	0	FSIP2	186381026	1.000000	0.71417	0.951000	0.38953	0.021000	0.10359	3.228000	0.51270	1.425000	0.47237	0.585000	0.79938	GAA	FSIP2	-	NULL	ENSG00000188738		0.338	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	61	0	G	NM_173651		186672781	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	A	A	186672781	G	A	186672781	3	1	163	1	0	0	0	0	1	0	0	0	6099	1291	45	3	19081	3	FSIP2	2	186672781	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	7069939	186672781	56526592	58	41263											
GTF3C3	9330	genome.wustl.edu	37	chr2	197629382	197629382	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtaggcaatatctcttcGtaagtctaactggtcaagtt	10	15	9	7	1	3	0	1	0	2	0	5	0	3	0	0	2	1	5	0	2	6	7			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:197629382G>A	ENST00000263956.3	-	18	2655	c.2566C>T	c.(2566-2568)Cga>Tga	p.R856*		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	856					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						ATATCTCTTCGTAAGTCTAAC	0.368																																																	0													122	123	122					2																	197629382		2203	4300	6503	SO:0001587	stop_gained	0			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.2566C>T	2.37:g.197629382G>A	ENSP00000263956:p.Arg856*		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Nonsense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R856*	ENST00000263956.3	37	c.2566	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.927799	0.97940	.	.	ENSG00000119041	ENST00000263956	.	.	.	5.1	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-10.3324	11.8303	0.52290	0.0:0.0:0.5122:0.4878	.	.	.	.	X	856	.	ENSP00000263956:R856X	R	-	1	2	GTF3C3	197337627	0.991000	0.36638	0.995000	0.50966	0.829000	0.46940	1.042000	0.30303	1.339000	0.45563	0.591000	0.81541	CGA	GTF3C3	-	NULL	ENSG00000119041		0.368	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	HGNC	protein_coding	OTTHUMT00000256104.1	-	0	100	0	G			197629382	-1	tier1	-	no_errors	ENST00000263956	ensembl	human	known	74_37	nonsense	14.29	42	7	SNP	0.993	A	A	197629382	G	A	197629382	4	1	163	1	0	0	0	0	0	1	0	0	6901	1153	40	1	98	1	GTF3C3	2	197629382	Nonsense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	10956601	197629382	45569991	59	41264											
PLCL1	5334	genome.wustl.edu	37	chr2	198948610	198948610	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggctgtgagttgaagaaAgtccggccaaattctcgcat	10	10	12	9	2	1	3	0	2	1	1	3	3	2	3	2	2	0	4	2	2	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:198948610A>C	ENST00000428675.1	+	2	767	c.369A>C	c.(367-369)aaA>aaC	p.K123N	PLCL1_ENST00000437704.2_Missense_Mutation_p.K25N	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	123	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGTTGAAGAAAGTCCGGCCAA	0.458																																																	0													78	73	75					2																	198948610		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.369A>C	2.37:g.198948610A>C	ENSP00000402861:p.Lys123Asn		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.K123N	ENST00000428675.1	37	c.369	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950579	0.73787	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.70282	-0.47;-0.47	5.67	-2.5	0.06384	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	D	0.84293	0.5440	M	0.92923	3.36	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84729	0.0744	9	.	.	.	.	11.5031	0.50450	0.6566:0.0:0.3434:0.0	.	123;49	Q15111;B4DYZ4	PLCL1_HUMAN;.	N	123;25	ENSP00000402861:K123N;ENSP00000414138:K25N	.	K	+	3	2	PLCL1	198656855	0.998000	0.40836	0.949000	0.38748	0.985000	0.73830	0.868000	0.27982	-0.339000	0.08401	0.533000	0.62120	AAA	PLCL1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115896		0.458	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	-	0	72	0	A	NM_006226		198948610	1	tier1	-	no_errors	ENST00000428675	ensembl	human	known	74_37	missense	15.09	45	8	SNP	0.986	C	C	198948610	A	C	198948610	3	2	163	1	0	0	0	0	1	0	0	0	12078	69	3	4	375	4	PLCL1	2	198948610	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	1319228	198948610	44250763	60	41265											
ORC2L	4999	genome.wustl.edu	37	chr2	201778130	201778130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtaaaaatcttgaaaaGaaaggcctggcaagttcaaa	17	8	10	6	0	2	2	1	1	1	1	2	2	2	2	1	3	0	4	1	3	8	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:201778130G>T	ENST00000234296.2	-	17	1784	c.1535C>A	c.(1534-1536)tCt>tAt	p.S512Y		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	512					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						ATCTTGAAAAGAAAGGCCTGG	0.408																																																	0													64	66	65					2																	201778130		2203	4300	6503	SO:0001583	missense	0				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.1535C>A	2.37:g.201778130G>T	ENSP00000234296:p.Ser512Tyr		Q13204|Q53TX5	Missense_Mutation	SNP	pfam_ORC2	p.S512Y	ENST00000234296.2	37	c.1535	CCDS2334.1	2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975573	0.74360	.	.	ENSG00000115942	ENST00000234296	T	0.44881	0.91	5.6	4.72	0.59763	.	0.112285	0.64402	D	0.000006	T	0.65739	0.2720	M	0.83953	2.67	0.58432	D	0.999991	P	0.52463	0.953	P	0.61800	0.894	T	0.72283	-0.4339	10	0.66056	D	0.02	-0.991	16.5252	0.84329	0.0:0.131:0.869:0.0	.	512	Q13416	ORC2_HUMAN	Y	512	ENSP00000234296:S512Y	ENSP00000234296:S512Y	S	-	2	0	ORC2	201486375	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	7.726000	0.84824	1.336000	0.45506	0.591000	0.81541	TCT	ORC2	-	pfam_ORC2	ENSG00000115942		0.408	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	HGNC	protein_coding	OTTHUMT00000256191.2		0	55	0	G	NM_006190		201778130	-1			no_errors	ENST00000234296	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	201778130	G	T	201778130	3	4	163	1	0	0	0	0	1	0	0	0	11301	942	33	3	206	3	ORC2L	2	201778130	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2829520	201778130	41421243	61	41266											
MAP2	4133	genome.wustl.edu	37	chr2	210570439	210570439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gttctatctcttcttcagcaCggcggaccaccagtaggttt	7	13	9	12	2	4	0	1	0	3	0	5	1	4	1	2	3	1	4	2	3	2	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:210570439C>T	ENST00000360351.4	+	11	5226	c.4720C>T	c.(4720-4722)Cgg>Tgg	p.R1574W	MAP2_ENST00000392194.1_Missense_Mutation_p.R218W|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Missense_Mutation_p.R218W|MAP2_ENST00000199940.6_Missense_Mutation_p.R275W|MAP2_ENST00000447185.1_Missense_Mutation_p.R1570W	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1574					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TTCTTCAGCACGGCGGACCAC	0.393																																					Pancreas(27;423 979 28787 29963)												0													143	145	144					2																	210570439		2203	4300	6503	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4720C>T	2.37:g.210570439C>T	ENSP00000353508:p.Arg1574Trp		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.R1574W	ENST00000360351.4	37	c.4720	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995310	0.74703	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.19806	2.13;2.94;2.12;2.12;2.94	5.44	3.6	0.41247	.	0.000000	0.46442	D	0.000298	T	0.35098	0.0920	L	0.32530	0.975	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;0.996;0.988;0.999;0.997	T	0.07481	-1.0770	10	0.66056	D	0.02	-8.5505	14.5087	0.67769	0.2681:0.7319:0.0:0.0	.	1570;218;219;1574;275	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	W	275;1574;218;218;1570	ENSP00000199940:R275W;ENSP00000353508:R1574W;ENSP00000355290:R218W;ENSP00000376032:R218W;ENSP00000392164:R1570W	ENSP00000199940:R275W	R	+	1	2	MAP2	210278684	0.821000	0.29204	0.975000	0.42487	0.880000	0.50808	1.418000	0.34782	0.628000	0.30357	0.591000	0.81541	CGG	MAP2	-	NULL	ENSG00000078018		0.393	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0	40	0	C	NM_001039538		210570439	1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	missense	23.08	20	6	SNP	1.000	T	T	210570439	C	T	210570439	3	4	163	1	0	0	0	0	1	0	0	0	9273	527	19	1	4925	1	MAP2	2	210570439	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	8792309	210570439	32628934	62	41267											
USP37	57695	genome.wustl.edu	37	chr2	219341622	219341622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaaagtctctggctgaGggccacagaacgttttagct	10	11	10	10	1	2	2	1	1	1	1	3	2	2	2	1	2	2	3	1	2	3	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:219341622G>T	ENST00000258399.3	-	19	2396	c.1984C>A	c.(1984-1986)Ctc>Atc	p.L662I	USP37_ENST00000475553.1_5'Flank|USP37_ENST00000415516.1_Missense_Mutation_p.L568I|USP37_ENST00000454775.1_Missense_Mutation_p.L662I|USP37_ENST00000418019.1_Missense_Mutation_p.L662I	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	662	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)		CTCTGGCTGAGGGCCACAGAA	0.388																																																	0													98	94	96					2																	219341622		2203	4300	6503	SO:0001583	missense	0			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.1984C>A	2.37:g.219341622G>T	ENSP00000258399:p.Leu662Ile		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.L662I	ENST00000258399.3	37	c.1984	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328236	0.24080	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.42131	1.01;1.01;0.98;1.01	5.2	2.37	0.29283	Ubiquitin interacting motif (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.609329	0.16443	N	0.214240	T	0.19485	0.0468	N	0.08118	0	0.80722	D	1	B;B	0.19583	0.03;0.037	B;B	0.18871	0.013;0.023	T	0.05468	-1.0883	10	0.46703	T	0.11	-1.7111	3.4538	0.07507	0.1548:0.1349:0.5716:0.1388	.	568;662	Q86T82-2;Q86T82	.;UBP37_HUMAN	I	662;662;568;662	ENSP00000258399:L662I;ENSP00000393662:L662I;ENSP00000400902:L568I;ENSP00000396585:L662I	ENSP00000258399:L662I	L	-	1	0	USP37	219049866	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	1.592000	0.36676	0.327000	0.23409	0.655000	0.94253	CTC	USP37	-	pfam_Peptidase_C19/C67,smart_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	ENSG00000135913		0.388	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	-	0	65	0	G	NM_020935		219341622	-1	tier1	-	no_errors	ENST00000258399	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.985	T	T	219341622	G	T	219341622	3	4	163	1	0	0	0	0	1	0	0	0	17117	1000	35	3	987	3	USP37	2	219341622	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	8771183	219341622	23857751	63	41268											
PER2	8864	genome.wustl.edu	37	chr2	239162260	239162260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgagtctcgaggtttgaCccgcttggacttcaattttc	8	14	10	9	2	2	3	1	2	1	1	4	5	2	4	1	2	0	2	1	2	1	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:239162260C>T	ENST00000254657.3	-	19	2683	c.2404G>A	c.(2404-2406)Gtc>Atc	p.V802I	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	802					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)		CGAGGTTTGACCCGCTTGGAC	0.537																																																	0													12	15	14					2																	239162260		2197	4297	6494	SO:0001583	missense	0			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.2404G>A	2.37:g.239162260C>T	ENSP00000254657:p.Val802Ile		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.V802I	ENST00000254657.3	37	c.2404	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	C	0.756	-0.770921	0.02974	.	.	ENSG00000132326	ENST00000254657	T	0.10477	2.87	4.3	2.02	0.26589	.	0.683311	0.15133	N	0.278718	T	0.07954	0.0199	L	0.41824	1.3	0.80722	D	1	B;B	0.16603	0.018;0.001	B;B	0.13407	0.009;0.003	T	0.18398	-1.0338	10	0.22109	T	0.4	-10.2896	5.7721	0.18259	0.0:0.6552:0.1977:0.1471	.	802;802	B4DH14;O15055	.;PER2_HUMAN	I	802	ENSP00000254657:V802I	ENSP00000254657:V802I	V	-	1	0	PER2	238826999	0.000000	0.05858	0.137000	0.22149	0.081000	0.17604	0.259000	0.18405	0.928000	0.37168	-0.264000	0.10439	GTC	PER2	-	NULL	ENSG00000132326		0.537	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	-	0	54	0	C	NM_022817		239162260	-1	tier1	-	no_errors	ENST00000254657	ensembl	human	known	74_37	missense	30.91	38	17	SNP	0.984	T	T	239162260	C	T	239162260	3	4	163	1	0	0	0	0	1	0	0	0	11769	507	18	3	1383	3	PER2	2	239162260	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	19820638	239162260	4037113	64	41269											
AGXT	189	genome.wustl.edu	37	chr2	241818185	241818185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgagaatgtggaccgcGtgacggaggccctgagggcg	7	4	18	12	6	0	3	0	2	0	1	0	6	0	5	3	4	0	0	3	4	1	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr2:241818185G>A	ENST00000307503.3	+	11	1513	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	376					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	TGTGGACCGCGTGACGGAGGC	0.692																																																	0													27	30	29					2																	241818185		2199	4289	6488	SO:0001583	missense	0			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.1126G>A	2.37:g.241818185G>A	ENSP00000302620:p.Val376Met		Q53QU6	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	p.V376M	ENST00000307503.3	37	c.1126	CCDS2543.1	2	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265860	0.23136	.	.	ENSG00000172482	ENST00000307503	D	0.88124	-2.34	4.05	2.06	0.26882	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.383950	0.25258	N	0.031975	D	0.92163	0.7515	M	0.80982	2.52	0.18873	N	0.999983	D;D	0.71674	0.998;0.998	D;P	0.65773	0.938;0.893	D	0.85939	0.1457	10	0.72032	D	0.01	-20.463	12.6577	0.56795	0.0:0.4758:0.5242:0.0	.	254;376	Q9UJX1;P21549	.;SPYA_HUMAN	M	376	ENSP00000302620:V376M	ENSP00000302620:V376M	V	+	1	0	AGXT	241466858	0.615000	0.27026	0.004000	0.12327	0.019000	0.09904	1.624000	0.37018	0.222000	0.20900	0.467000	0.42956	GTG	AGXT	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	ENSG00000172482		0.692	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT	HGNC	protein_coding	OTTHUMT00000257186.1	-	0	111	0	G	NM_000030		241818185	1	tier1	-	no_errors	ENST00000307503	ensembl	human	known	74_37	missense	32.14	57	27	SNP	0.012	A	A	241818185	G	A	241818185	3	1	163	1	0	0	0	0	1	0	0	0	404	1145	40	1	1168	1	AGXT	2	241818185	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2655925	241818185	1381188	65	41270											
CNTN4	152330	genome.wustl.edu	37	chr3	3076351	3076351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaggctgtgacaatagacGaaatcacagataccactgct	15	7	9	10	1	1	4	1	1	0	3	1	5	1	4	1	1	2	2	1	1	4	2	rs374090181		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:3076351G>A	ENST00000397461.1	+	16	2203	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	CNTN4_ENST00000427331.1_Missense_Mutation_p.E607K|CNTN4_ENST00000397459.2_Missense_Mutation_p.E279K|CNTN4_ENST00000358480.3_Missense_Mutation_p.E388K|CNTN4_ENST00000418658.1_Missense_Mutation_p.E607K|CNTN4_ENST00000448906.2_Missense_Mutation_p.E279K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	607	Fibronectin type-III 1. {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)		GACAATAGACGAAATCACAGA	0.537																																																	0								G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	85	72	76		1819,832,1819,835	4.3	1	3		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CNTN4	NM_001206955.1,NM_001206956.1,NM_175607.2,NM_175613.2	56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	607/1027,278/698,607/1027,279/699	3076351	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1819G>A	3.37:g.3076351G>A	ENSP00000380602:p.Glu607Lys		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E607K	ENST00000397461.1	37	c.1819	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444907	0.83993	0.0	1.16E-4	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31	4.27	4.27	0.50696	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.70108	2.13	0.80722	D	1	P;P;P	0.44946	0.678;0.725;0.846	B;B;B	0.42188	0.22;0.379;0.327	T	0.69672	-0.5082	10	0.59425	D	0.04	.	17.0894	0.86618	0.0:0.0:1.0:0.0	.	606;607;607	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	K	607;607;607;388;279;279	ENSP00000396010:E607K;ENSP00000380602:E607K;ENSP00000413642:E607K;ENSP00000351267:E388K;ENSP00000380600:E279K;ENSP00000392077:E279K	ENSP00000351267:E388K	E	+	1	0	CNTN4	3051351	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.609000	0.82925	2.086000	0.62901	0.563000	0.77884	GAA	CNTN4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144619		0.537	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	-	0	50	0	G			3076351	1	tier1	-	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	A	A	3076351	G	A	3076351	3	1	163	1	0	0	0	0	1	0	0	0	3650	1059	37	1	1873	1	CNTN4	3	3076351	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		3076351	194946079	66	41271											
TRNT1	51095	genome.wustl.edu	37	chr3	3179068	3179068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctactcaaatgaaggaGatgtttcagtcggctgggat	11	10	11	9	1	2	2	2	1	0	1	3	4	2	3	2	3	1	2	2	3	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:3179068G>T	ENST00000251607.6	+	3	375	c.273G>T	c.(271-273)gaG>gaT	p.E91D	TRNT1_ENST00000280591.6_Missense_Mutation_p.E91D	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	91					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)		AAATGAAGGAGATGTTTCAGT	0.418																																																	0													87	89	88					3																	3179068		2203	4300	6503	SO:0001583	missense	0			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.273G>T	3.37:g.3179068G>T	ENSP00000251607:p.Glu91Asp		A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Missense_Mutation	SNP	pfam_PolA_pol_head_dom	p.E91D	ENST00000251607.6	37	c.273	CCDS2561.2	3	.	.	.	.	.	.	.	.	.	.	G	9.560	1.118175	0.20877	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	T;T	0.22945	1.93;1.93	5.25	1.42	0.22433	Poly A polymerase, head domain (1);	0.549995	0.22270	N	0.062267	T	0.15782	0.0380	L	0.40543	1.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.11179	-1.0598	10	0.30078	T	0.28	-0.0027	2.8865	0.05662	0.129:0.327:0.3201:0.2239	.	91;91	Q96Q11-2;Q96Q11	.;TRNT1_HUMAN	D	91	ENSP00000251607:E91D;ENSP00000280591:E91D	ENSP00000251607:E91D	E	+	3	2	TRNT1	3154068	0.994000	0.37717	0.951000	0.38953	0.717000	0.41224	0.347000	0.20014	-0.024000	0.13941	-0.732000	0.03574	GAG	TRNT1	-	pfam_PolA_pol_head_dom	ENSG00000072756		0.418	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNT1	HGNC	protein_coding	OTTHUMT00000337616.1		0	56	0	G			3179068	1			no_errors	ENST00000251607	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.973	T	T	3179068	G	T	3179068	3	4	163	1	0	0	0	0	1	0	0	0	16621	933	33	3	279	3	TRNT1	3	3179068	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	102717	3179068	194843362	67	41272											
COLQ	8292	genome.wustl.edu	37	chr3	15493171	15493171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggtgaagtagcggcaggGcgtggagtcgatgtagcagt	9	8	18	6	3	1	1	1	1	0	0	2	3	1	2	0	4	2	4	0	4	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:15493171G>T	ENST00000383788.5	-	17	1473	c.1348C>A	c.(1348-1350)Ccc>Acc	p.P450T	COLQ_ENST00000383781.4_Missense_Mutation_p.P440T|EAF1-AS1_ENST00000608408.1_RNA|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000383787.2_Missense_Mutation_p.P441T|COLQ_ENST00000603752.1_5'Flank|COLQ_ENST00000435459.2_Missense_Mutation_p.P440T|EAF1-AS1_ENST00000609310.1_RNA|COLQ_ENST00000383786.5_Missense_Mutation_p.P416T|COLQ_ENST00000603808.1_Missense_Mutation_p.P451T	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	450					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TAGCGGCAGGGCGTGGAGTCG	0.567																																																	0													85	84	84					3																	15493171		2203	4300	6503	SO:0001583	missense	0			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase", "collagenic tail of endplate acetylcholinesterase", "AChE Q subunit", "acetylcholinesterase-associated collagen"	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.1348C>A	3.37:g.15493171G>T	ENSP00000373298:p.Pro450Thr		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	pfam_Collagen,tigrfam_Myxo_disulph_rpt	p.P450T	ENST00000383788.5	37	c.1348	CCDS33709.1	3	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854276	0.32791	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786	D;D;D;D;D	0.90504	-2.51;-2.68;-2.63;-2.62;-2.66	5.49	4.59	0.56863	.	0.224832	0.45867	D	0.000329	D	0.88171	0.6365	L	0.51422	1.61	0.80722	D	1	P;P;P;P	0.45283	0.855;0.481;0.773;0.855	B;B;B;B	0.43950	0.437;0.42;0.253;0.359	D	0.87301	0.2305	10	0.56958	D	0.05	-4.754	9.9128	0.41417	0.0783:0.1377:0.784:0.0	.	416;441;450;440	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	T	441;440;440;450;440;451;416	ENSP00000373297:P441T;ENSP00000373291:P440T;ENSP00000402511:P440T;ENSP00000373298:P450T;ENSP00000373296:P416T	ENSP00000373291:P440T	P	-	1	0	COLQ	15468175	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.008000	0.40893	1.248000	0.43934	0.561000	0.74099	CCC	COLQ	-	NULL	ENSG00000206561		0.567	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	HGNC	protein_coding	OTTHUMT00000343575.1	-	0	40	0	G	NM_005677		15493171	-1	tier1	-	no_errors	ENST00000383788	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.995	T	T	15493171	G	T	15493171	3	4	163	1	0	0	0	0	1	0	0	0	3720	1203	42	3	23	3	COLQ	3	15493171	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	12314103	15493171	182529259	68	41273											
SCN5A	6331	genome.wustl.edu	37	chr3	38629045	38629045	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcttgaaggtcatctctgctGtgaaaatccctgtgaagacc	10	12	9	10	0	3	4	1	3	2	1	5	4	4	4	2	1	1	1	2	1	4	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:38629045G>T	ENST00000333535.4	-	15	2431	c.2282C>A	c.(2281-2283)aCa>aAa	p.T761K	SCN5A_ENST00000451551.2_Missense_Mutation_p.T761K|SCN5A_ENST00000455624.2_Missense_Mutation_p.T761K|SCN5A_ENST00000450102.2_Missense_Mutation_p.T761K|SCN5A_ENST00000413689.1_Missense_Mutation_p.T761K|SCN5A_ENST00000425664.1_Missense_Mutation_p.T761K|SCN5A_ENST00000423572.2_Missense_Mutation_p.T761K|SCN5A_ENST00000443581.1_Missense_Mutation_p.T761K|SCN5A_ENST00000449557.2_Missense_Mutation_p.T761K|SCN5A_ENST00000414099.2_Missense_Mutation_p.T761K			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	761					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCTCTGCTGTGAAAATCCC	0.532																																																	0													123	124	124					3																	38629045		2052	4213	6265	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2282C>A	3.37:g.38629045G>T	ENSP00000328968:p.Thr761Lys		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.T761K	ENST00000333535.4	37	c.2282	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522976	0.85600	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	4.14	4.14	0.48551	Ion transport (1);	0.104908	0.64402	D	0.000004	D	0.99539	0.9835	H	0.96889	3.9	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	0.999;0.998;0.988;0.975;0.979;1.0;0.974	D;D;P;P;P;D;P	0.87578	0.998;0.966;0.844;0.863;0.815;0.973;0.647	D	0.97771	1.0226	10	0.87932	D	0	.	16.5932	0.84781	0.0:0.0:1.0:0.0	.	761;761;761;761;761;761;761	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	K	761	ENSP00000398962:T761K;ENSP00000398266:T761K;ENSP00000410257:T761K;ENSP00000388797:T761K;ENSP00000397915:T761K;ENSP00000416634:T761K;ENSP00000328968:T761K;ENSP00000399524:T761K;ENSP00000403355:T761K;ENSP00000413996:T761K	ENSP00000328968:T761K	T	-	2	0	SCN5A	38604049	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.611000	0.98342	2.154000	0.67381	0.555000	0.69702	ACA	SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.532	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0	68	0	G	NM_198056		38629045	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	38629045	G	T	38629045	3	4	163	1	0	0	0	0	1	0	0	0	13967	1377	48	3	3824	3	SCN5A	3	38629045	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	23135874	38629045	159393385	69	41274											
CCR2	729230	genome.wustl.edu	37	chr3	46401294	46401294	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctcgatggtcgtggaaaAggaaagtcaattggcagagc	12	8	13	8	2	1	1	1	0	0	1	4	4	2	3	1	4	1	1	1	4	4	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:46401294A>T	ENST00000400888.2	+	2	1107	c.1068A>T	c.(1066-1068)aaA>aaT	p.K356N	CCR2_ENST00000292301.4_Missense_Mutation_p.K356N			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	356					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)		GTCGTGGAAAAGGAAAGTCAA	0.498																																																	0													103	94	97					3																	46401294		1568	3582	5150	SO:0001583	missense	0				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.1068A>T	3.37:g.46401294A>T	ENSP00000383681:p.Lys356Asn		A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2	p.K356N	ENST00000400888.2	37	c.1068	CCDS43078.1	3	.	.	.	.	.	.	.	.	.	.	A	10.44	1.349644	0.24426	.	.	ENSG00000121807	ENST00000292301;ENST00000400888	T;T	0.68331	-0.32;-0.32	3.45	1.05	0.20165	.	2.359950	0.02838	N	0.127600	T	0.46946	0.1419	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.26864	0.074	T	0.45026	-0.9289	10	0.66056	D	0.02	.	5.6905	0.17827	0.8085:0.0:0.1915:0.0	.	356	P41597	CCR2_HUMAN	N	356	ENSP00000292301:K356N;ENSP00000383681:K356N	ENSP00000292301:K356N	K	+	3	2	CCR2	46376298	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	0.856000	0.27818	0.228000	0.21019	0.528000	0.53228	AAA	CCR2	-	NULL	ENSG00000121807		0.498	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCR2	HGNC	protein_coding	OTTHUMT00000344292.1	-	0	44	0	A	NM_000647		46401294	1	tier1	-	no_errors	ENST00000292301	ensembl	human	known	74_37	missense	44.44	15	12	SNP	0.000	T	T	46401294	A	T	46401294	3	4	163	1	0	0	0	0	1	0	0	0	2948	69	3	5	1216	5	CCR2	3	46401294	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	7772249	46401294	151621136	70	41275											
PRKCD	5580	genome.wustl.edu	37	chr3	53221364	53221364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcttgcccaggttttatgCcgctgagataatgtgtggac	7	14	11	9	1	1	1	0	1	1	1	2	3	1	2	2	2	2	2	2	2	2	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:53221364C>T	ENST00000394729.2	+	14	1689	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	PRKCD_ENST00000330452.3_Missense_Mutation_p.A454V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	454	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)	AGGTTTTATGCCGCTGAGATA	0.587																																																	0													133	130	131					3																	53221364		2203	4300	6503	SO:0001583	missense	0				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.1361C>T	3.37:g.53221364C>T	ENSP00000378217:p.Ala454Val		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.A454V	ENST00000394729.2	37	c.1361	CCDS2870.1	3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466308	0.84425	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.65732	-0.17;-0.17	5.47	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.314985	0.33199	N	0.005174	T	0.49355	0.1552	L	0.28556	0.865	0.35936	D	0.832857	P	0.46457	0.878	B	0.39217	0.294	T	0.65096	-0.6251	10	0.62326	D	0.03	.	13.8927	0.63750	0.0:0.7762:0.2238:0.0	.	454	Q05655	KPCD_HUMAN	V	454	ENSP00000378217:A454V;ENSP00000331602:A454V	ENSP00000331602:A454V	A	+	2	0	PRKCD	53196404	0.894000	0.30519	0.952000	0.39060	0.896000	0.52359	1.727000	0.38095	2.572000	0.86782	0.591000	0.81541	GCC	PRKCD	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom	ENSG00000163932		0.587	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1	-	0	64	0	C			53221364	1	tier1	-	no_errors	ENST00000330452	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.392	T	T	53221364	C	T	53221364	3	4	163	1	0	0	0	0	1	0	0	0	12551	739	26	3	1411	3	PRKCD	3	53221364	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	6820070	53221364	144801066	71	41276											
CACNA1D	776	genome.wustl.edu	37	chr3	53835354	53835354	+	Frame_Shift_Del	DEL	G	G	-																															tccaaagctgcccatggaaaGcggcccagcattgggaacct																								rs142471385		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:53835354delG	ENST00000350061.5	+	42	5821	c.5310delG	c.(5308-5310)aagfs	p.K1770fs	CACNA1D_ENST00000422281.2_Frame_Shift_Del_p.K1755fs|CACNA1D_ENST00000544977.1_Frame_Shift_Del_p.K149fs|CACNA1D_ENST00000288139.4_Frame_Shift_Del_p.K1790fs	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1770					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)	CCCATGGAAAGCGGCCCAGCA	0.468																																																	0													79	73	75					3																	53835354		2203	4300	6503	SO:0001589	frameshift_variant	0			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.5310delG	3.37:g.53835354delG	ENSP00000288133:p.Lys1770fs		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.K1790fs	ENST00000350061.5	37	c.5370	CCDS46848.1	3																																																																																			CACNA1D	-	NULL	ENSG00000157388		0.468	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1		0	62	0	G	NM_000720		53835354	1	tier1		no_errors	ENST00000288139	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	0.997	-	-	53835354	G	-	53835354	7	5	163	1	0	1	0	1	0	0	0	0	2548	962	34	0	5648	0	CACNA1D	3	53835354	Frame_Shift_Del	DEL	G	TCGA-VR-A8EQ-01A-11D-A36J-09	613990	53835354	144187076	72	41277											
CHDH	55349	genome.wustl.edu	37	chr3	53856660	53856660	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggcacaggccgcgctcCaccgtttgcctgcaggatgg	6	7	15	13	3	0	0	0	0	0	0	1	1	1	1	4	5	2	5	4	5	1	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:53856660C>T	ENST00000315251.6	-	4	1150	c.713G>A	c.(712-714)tGg>tAg	p.W238*		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	238					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)	GGCCGCGCTCCACCGTTTGCC	0.632																																																	0													70	59	63					3																	53856660		2203	4300	6503	SO:0001587	stop_gained	0			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.713G>A	3.37:g.53856660C>T	ENSP00000319851:p.Trp238*		Q9NY17	Nonsense_Mutation	SNP	pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase	p.W238*	ENST00000315251.6	37	c.713	CCDS2873.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.296854	0.97453	.	.	ENSG00000016391	ENST00000315251	.	.	.	5.65	5.65	0.86999	.	0.060488	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.5161	14.3605	0.66768	0.1479:0.8521:0.0:0.0	.	.	.	.	X	238	.	ENSP00000319851:W238X	W	-	2	0	CHDH	53831700	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	6.888000	0.75622	2.941000	0.99782	0.655000	0.94253	TGG	CHDH	-	pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase	ENSG00000016391		0.632	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDH	HGNC	protein_coding	OTTHUMT00000350567.2	-	0	23	0	C	NM_018397		53856660	-1	tier1	-	no_errors	ENST00000315251	ensembl	human	known	74_37	nonsense	14.81	23	4	SNP	1.000	T	T	53856660	C	T	53856660	4	4	163	1	0	0	0	0	0	1	0	0	3340	595	21	3	1095	3	CHDH	3	53856660	Nonsense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	21306	53856660	144165770	73	41278											
CNTN3	5067	genome.wustl.edu	37	chr3	74350929	74350929	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtctgtaatttcatctaccTtcacattttctggtggtcca	7	18	6	10	0	5	0	2	0	3	0	6	0	6	0	2	2	1	1	2	2	2	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:74350929T>G	ENST00000263665.6	-	14	1841	c.1814A>C	c.(1813-1815)aAg>aCg	p.K605T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	605	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTCATCTACCTTCACATTTTC	0.428																																																	0													260	228	239					3																	74350929		2203	4300	6503	SO:0001583	missense	0			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.1814A>C	3.37:g.74350929T>G	ENSP00000263665:p.Lys605Thr		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K605T	ENST00000263665.6	37	c.1814	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	T	7.516	0.655617	0.14580	.	.	ENSG00000113805	ENST00000263665	T	0.56611	0.45	5.98	2.19	0.27852	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.263388	0.43416	D	0.000573	T	0.25158	0.0611	N	0.10664	0.02	0.09310	N	0.999999	B	0.09022	0.002	B	0.14023	0.01	T	0.16424	-1.0403	10	0.15499	T	0.54	.	5.3514	0.16038	0.0:0.214:0.2549:0.5312	.	605	Q9P232	CNTN3_HUMAN	T	605	ENSP00000263665:K605T	ENSP00000263665:K605T	K	-	2	0	CNTN3	74433619	0.004000	0.15560	0.986000	0.45419	0.919000	0.55068	0.615000	0.24329	0.131000	0.18576	-0.376000	0.06991	AAG	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.428	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0	75	0	T	NM_020872		74350929	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	missense	20.00	35	9	SNP	0.065	G	G	74350929	T	G	74350929	3	3	163	1	0	0	0	0	1	0	0	0	3649	1609	56	4	1308	4	CNTN3	3	74350929	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	20494269	74350929	123671501	74	41279											
CEP97	79598	genome.wustl.edu	37	chr3	101451488	101451488	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatggatatgtgatttctCagaaggaaaggtaaacatgt	15	12	11	3	0	1	3	1	1	1	2	2	5	1	5	0	3	1	1	0	3	6	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:101451488C>T	ENST00000341893.3	+	6	1470	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	CEP97_ENST00000327230.4_Nonsense_Mutation_p.Q240*|CEP97_ENST00000494050.1_Nonsense_Mutation_p.Q240*|CEP97_ENST00000462076.1_3'UTR			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	240	LRRCT.				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						TGTGATTTCTCAGAAGGAAAG	0.393																																																	0													121	116	117					3																	101451488		2203	4300	6503	SO:0001587	stop_gained	0			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.718C>T	3.37:g.101451488C>T	ENSP00000342510:p.Gln240*		B5MDY8|Q8NA71|Q9H5T9	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.Q240*	ENST00000341893.3	37	c.718	CCDS2944.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.730127	0.96856	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-5.0828	20.1086	0.97902	0.0:1.0:0.0:0.0	.	.	.	.	X	240	.	ENSP00000325881:Q240X	Q	+	1	0	CEP97	102934178	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.786000	0.85741	2.756000	0.94617	0.563000	0.77884	CAG	CEP97	-	NULL	ENSG00000182504		0.393	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	-	0	56	0	C	NM_024548		101451488	1	tier1	-	no_errors	ENST00000327230	ensembl	human	known	74_37	nonsense	15.62	27	5	SNP	1.000	T	T	101451488	C	T	101451488	4	4	163	1	0	0	0	0	0	1	0	0	3270	827	29	3	740	3	CEP97	3	101451488	Nonsense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	27100559	101451488	96570942	75	41280											
COL6A6	131873	genome.wustl.edu	37	chr3	130307988	130307988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaagtgcattggaggaGatggcacaatgggagatcct	11	9	14	7	0	1	2	0	0	1	2	2	5	2	3	1	4	2	3	1	4	2	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:130307988G>T	ENST00000358511.6	+	11	4211	c.4180G>T	c.(4180-4182)Gat>Tat	p.D1394Y	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1394Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1394	Triple-helical region.				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						CATTGGAGGAGATGGCACAAT	0.443																																																	0													148	156	154					3																	130307988		1980	4178	6158	SO:0001583	missense	0			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.4180G>T	3.37:g.130307988G>T	ENSP00000351310:p.Asp1394Tyr		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D1394Y	ENST00000358511.6	37	c.4180	CCDS46911.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.77|15.77	2.932133|2.932133	0.52866|0.52866	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000358511;ENST00000453409|ENST00000511332	D;D|.	0.93488|.	-3.23;-3.23|.	5.8|5.8	4.92|4.92	0.64577|0.64577	.|.	0.149015|.	0.31279|.	N|.	0.007926|.	T|T	0.60104|0.60104	0.2243|0.2243	M|M	0.84082|0.84082	2.675|2.675	0.30645|0.30645	N|N	0.756041|0.756041	D|.	0.67145|.	0.996|.	D|.	0.66847|.	0.947|.	T|T	0.65191|0.65191	-0.6228|-0.6228	10|5	0.72032|.	D|.	0.01|.	.|.	6.722|6.722	0.23334|0.23334	0.2275:0.0:0.7725:0.0|0.2275:0.0:0.7725:0.0	.|.	1394|.	A6NMZ7|.	CO6A6_HUMAN|.	Y|D	1394|151	ENSP00000351310:D1394Y;ENSP00000399236:D1394Y|.	ENSP00000351310:D1394Y|.	D|E	+|+	1|3	0|2	COL6A6|COL6A6	131790678|131790678	0.989000|0.989000	0.36119|0.36119	0.713000|0.713000	0.30519|0.30519	0.427000|0.427000	0.31564|0.31564	2.262000|2.262000	0.43285|0.43285	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAT|GAG	COL6A6	-	pfam_Collagen	ENSG00000206384		0.443	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0	115	0	G	NM_001102608		130307988	1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.902	T	T	130307988	G	T	130307988	3	4	163	1	0	0	0	0	1	0	0	0	3710	942	33	3	4222	3	COL6A6	3	130307988	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	28856500	130307988	67714442	76	41281											
A4GNT	51146	genome.wustl.edu	37	chr3	137849810	137849810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggtatgtggagtttgaggGcatcggtgtggaatcagtaa	9	12	17	3	1	1	1	1	1	0	0	2	3	1	3	0	5	0	4	0	5	3	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:137849810G>A	ENST00000236709.3	-	2	490	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	97					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						GAGTTTGAGGGCATCGGTGTG	0.468																																																	0													115	117	116					3																	137849810		2203	4300	6503	SO:0001583	missense	0			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.289C>T	3.37:g.137849810G>A	ENSP00000236709:p.Pro97Ser		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS	p.P97S	ENST00000236709.3	37	c.289	CCDS3097.1	3	.	.	.	.	.	.	.	.	.	.	G	3.991	-0.004504	0.07773	.	.	ENSG00000118017	ENST00000236709	T	0.80123	-1.34	5.27	1.22	0.21188	Glycosyltransferase, DXD sugar-binding motif (1);	0.813367	0.10471	N	0.670757	T	0.73171	0.3553	M	0.71036	2.16	0.09310	N	1	P	0.35527	0.507	B	0.37550	0.253	T	0.56347	-0.7994	10	0.09590	T	0.72	-4.4364	2.4084	0.04418	0.2397:0.1551:0.4898:0.1154	.	97	Q9UNA3	A4GCT_HUMAN	S	97	ENSP00000236709:P97S	ENSP00000236709:P97S	P	-	1	0	A4GNT	139332500	0.006000	0.16342	0.000000	0.03702	0.304000	0.27724	0.464000	0.21988	-0.071000	0.12886	0.561000	0.74099	CCC	A4GNT	-	pfam_GlycoTrfase_DXD_sugar-bd_CS	ENSG00000118017		0.468	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A4GNT	HGNC	protein_coding	OTTHUMT00000357557.1	-	0	60	0	G	NM_016161		137849810	-1	tier1	-	no_errors	ENST00000236709	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.000	A	A	137849810	G	A	137849810	3	1	163	1	0	0	0	0	1	0	0	0	7	1203	42	3	741	3	A4GNT	3	137849810	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	7541822	137849810	60172620	77	41282											
CLSTN2	64084	genome.wustl.edu	37	chr3	140277646	140277646	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccctcttccctgatatcaAgattgtgagcaccttcgcca	9	11	7	14	1	2	3	1	2	1	1	4	4	3	3	4	0	1	1	4	0	2	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:140277646A>C	ENST00000458420.3	+	12	2178	c.1988A>C	c.(1987-1989)aAg>aCg	p.K663T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	663					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTGATATCAAGATTGTGAGC	0.557										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													55	55	55					3																	140277646		2203	4300	6503	SO:0001583	missense	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1988A>C	3.37:g.140277646A>C	ENSP00000402460:p.Lys663Thr		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K663T	ENST00000458420.3	37	c.1988	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	A	11.63	1.695701	0.30052	.	.	ENSG00000158258	ENST00000458420	T	0.32272	1.46	5.41	1.84	0.25277	.	0.162265	0.53938	D	0.000060	T	0.19846	0.0477	L	0.43152	1.355	0.29125	N	0.88003	P	0.34462	0.454	B	0.29663	0.105	T	0.10109	-1.0644	9	.	.	.	-11.1602	6.7569	0.23518	0.6357:0.0:0.3643:0.0	.	663	Q9H4D0	CSTN2_HUMAN	T	663	ENSP00000402460:K663T	.	K	+	2	0	CLSTN2	141760336	1.000000	0.71417	0.993000	0.49108	0.479000	0.33129	1.234000	0.32660	0.386000	0.24997	0.528000	0.53228	AAG	CLSTN2	-	NULL	ENSG00000158258		0.557	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	-	0	58	0	A	NM_022131		140277646	1	tier1	-	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	50.00	17	17	SNP	0.998	C	C	140277646	A	C	140277646	3	2	163	1	0	0	0	0	1	0	0	0	3569	72	3	4	2034	4	CLSTN2	3	140277646	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	2427836	140277646	57744784	78	41283											
GK5	256356	genome.wustl.edu	37	chr3	141932411	141932411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctgtgttgaaatgccaaGaccaacaatttgattcatct	12	14	6	9	0	3	3	1	2	2	1	4	3	3	3	2	0	2	1	2	0	4	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:141932411G>A	ENST00000392993.2	-	3	425	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	GK5_ENST00000466685.3_5'UTR|GK5_ENST00000544571.1_Missense_Mutation_p.L92F	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	92					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						GAAATGCCAAGACCAACAATT	0.353																																																	0													164	154	157					3																	141932411		2203	4300	6503	SO:0001583	missense	0			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"Glycerol kinases"	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.274C>T	3.37:g.141932411G>A	ENSP00000418001:p.Leu92Phe		B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.L92F	ENST00000392993.2	37	c.274	CCDS33871.1	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135458	0.77662	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	T;T	0.52526	0.66;0.66	4.97	4.97	0.65823	Carbohydrate kinase, FGGY, N-terminal (1);	0.071924	0.64402	D	0.000018	T	0.57051	0.2027	M	0.82923	2.615	0.80722	D	1	P	0.36599	0.56	B	0.38683	0.279	T	0.66252	-0.5970	10	0.87932	D	0	-16.8487	17.3671	0.87367	0.0:0.0:1.0:0.0	.	92	Q6ZS86	GLPK5_HUMAN	F	92	ENSP00000418001:L92F;ENSP00000440860:L92F	ENSP00000418001:L92F	L	-	1	0	GK5	143415101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.956000	0.76013	2.457000	0.83068	0.591000	0.81541	CTT	GK5	-	pfam_Carb_kinase_FGGY_N	ENSG00000175066		0.353	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	-	0	83	0	G	NM_001039547		141932411	-1	tier1	-	no_errors	ENST00000392993	ensembl	human	known	74_37	missense	41.86	24	18	SNP	1.000	A	A	141932411	G	A	141932411	3	1	163	1	0	0	0	0	1	0	0	0	6448	942	33	3	1371	3	GK5	3	141932411	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1654765	141932411	56090019	79	41284											
BCHE	590	genome.wustl.edu	37	chr3	165548603	165548604	+	Frame_Shift_Ins	INS	-	-	T																															acttggtcagagactgtggcINStttttgaatcgaagtctacc																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:165548603_165548604insT	ENST00000264381.3	-	2	384_385	c.218_219insA	c.(217-219)aagfs	p.K73fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	73					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	GAGACTGTGGCTTTTTGAATCG	0.431																																																	0																																										SO:0001589	frameshift_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.219dupA	3.37:g.165548608_165548608dupT	ENSP00000264381:p.Lys73fs		A8K7P8	Frame_Shift_Ins	INS	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.P74fs	ENST00000264381.3	37	c.219_218	CCDS3198.1	3																																																																																			BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.431	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1		0	67	0	-			165548604	-1	tier1		no_errors	ENST00000264381	ensembl	human	known	74_37	frame_shift_ins	15.62	54	10	INS	1.000:1.000	T	T	165548604	-	T	165548603	7	5	163	1	0	1	1	0	0	0	0	0	1359	796	28	0	1601	0	BCHE	3	165548603	Frame_Shift_Ins	INS	-	TCGA-VR-A8EQ-01A-11D-A36J-09	23616192	165548603	32473827	80	41285											
NLGN1	22871	genome.wustl.edu	37	chr3	173997426	173997426	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatgacatactggacaaaTtttgctaaaactgggtatgt	14	13	9	5	0	0	1	0	1	0	0	0	2	0	2	0	2	3	3	0	2	6	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:173997426T>G	ENST00000457714.1	+	6	2064	c.1635T>G	c.(1633-1635)aaT>aaG	p.N545K	NLGN1_ENST00000401917.3_Missense_Mutation_p.N585K|NLGN1_ENST00000545397.1_Missense_Mutation_p.N545K|NLGN1_ENST00000361589.4_Missense_Mutation_p.N545K	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	562					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACTGGACAAATTTTGCTAAAA	0.318																																																	0													49	50	50					3																	173997426		2192	4271	6463	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1635T>G	3.37:g.173997426T>G	ENSP00000392500:p.Asn545Lys		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.N585K	ENST00000457714.1	37	c.1755	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172654	0.57584	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	6.17	2.56	0.30785	.	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	H	0.95982	3.75	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82384	-0.0484	10	0.87932	D	0	.	8.5218	0.33279	0.0:0.4211:0.0:0.5789	.	585;545	D2X2H5;Q8N2Q7-2	.;.	K	545;545;545;585	ENSP00000392500:N545K;ENSP00000354541:N545K;ENSP00000441108:N545K;ENSP00000385750:N585K	ENSP00000354541:N545K	N	+	3	2	NLGN1	175480120	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.733000	0.47360	0.215000	0.20761	0.533000	0.62120	AAT	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.318	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	-	0	31	0	T	NM_014932		173997426	1	tier1	-	no_errors	ENST00000401917	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	G	G	173997426	T	G	173997426	3	3	163	1	0	0	0	0	1	0	0	0	10500	1490	52	4	1649	4	NLGN1	3	173997426	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	8448823	173997426	24025004	81	41286											
LIPH	200879	genome.wustl.edu	37	chr3	185237010	185237010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatcctggtaggagtcacagGgatacgcagtgatggtgcag	11	8	15	7	1	1	1	1	1	0	0	2	3	2	3	1	4	2	3	1	4	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr3:185237010G>T	ENST00000296252.4	-	6	947	c.806C>A	c.(805-807)cCc>cAc	p.P269H	LIPH_ENST00000424591.2_Missense_Mutation_p.P235H	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	269					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)			GGAGTCACAGGGATACGCAGT	0.473																																																	0													148	145	146					3																	185237010		2203	4300	6503	SO:0001583	missense	0			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.806C>A	3.37:g.185237010G>T	ENSP00000296252:p.Pro269His		A2IBA7|Q8TEC7	Missense_Mutation	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.P269H	ENST00000296252.4	37	c.806	CCDS3272.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.294742|4.294742	0.81025|0.81025	.|.	.|.	ENSG00000163898|ENSG00000163898	ENST00000296252;ENST00000424591|ENST00000452897	D;D|D	0.91894|0.91894	-2.93;-2.93|-2.93	5.01|5.01	5.01|5.01	0.66863|0.66863	Lipase, N-terminal (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96262|0.96262	0.8781|0.8781	M|M	0.87456|0.87456	2.885|2.885	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.996;0.997|.	D|D	0.96833|0.96833	0.9612|0.9612	10|8	0.87932|0.87932	D|D	0|0	-19.3853|-19.3853	17.5292|17.5292	0.87809|0.87809	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	235;269|.	A2IBA6;Q8WWY8|.	.;LIPH_HUMAN|.	H|T	269;235|60	ENSP00000296252:P269H;ENSP00000396384:P235H|ENSP00000408218:P60T	ENSP00000296252:P269H|ENSP00000408218:P60T	P|P	-|-	2|1	0|0	LIPH|LIPH	186719704|186719704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.762000|0.762000	0.43233|0.43233	8.318000|8.318000	0.89990|0.89990	2.612000|2.612000	0.88384|0.88384	0.456000|0.456000	0.33151|0.33151	CCC|CCT	LIPH	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000163898		0.473	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	-	0	57	0	G			185237010	-1	tier1	-	no_errors	ENST00000296252	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	185237010	G	T	185237010	3	4	163	1	0	0	0	0	1	0	0	0	8854	1232	43	3	569	3	LIPH	3	185237010	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	11239584	185237010	12785420	82	41287											
ZNF595	152687	genome.wustl.edu	37	chr4	85996	85997	+	3'UTR	INS	-	-	C																															tgctggagagaaaccctacaINSatgtgaaaaatgtggcaaag																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:85996_85997insC	ENST00000339368.6	+	0	805_806							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GAAACCCTACAATGTGAAAAAT	0.406																																																	0										3582,324		1641,300,12						-0.1	0.1		dbSNP_129	12	7311,695		3331,649,23	no	frameshift	ZNF595	NM_182524.2		4972,949,35	A1A1,A1R,RR		8.681,8.2949,8.5544				10893,1019				SO:0001624	3_prime_UTR_variant	0			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*803->C	4.37:g.85996_85997insC				RNA	INS	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-	ENSG00000197701		0.406	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2		0	35	0	-	NM_182524		85997	1	tier1		no_errors	ENST00000339368	ensembl	human	known	74_37	rna	33.33	10	5	INS	0.001:0.009	C	C	85997	-	C	85996	6	5	163	0	1	1	1	0	0	0	0	0	18073	130	5	0		0	ZNF595	4	85996	3'UTR	INS	-	TCGA-VR-A8EQ-01A-11D-A36J-09		85996	191068280	83	41288											
NOP14	8602	genome.wustl.edu	37	chr4	2956249	2956249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgagtcttcttgtgaaGgagcccaccgcctcctccaa	7	11	9	14	1	2	2	0	2	2	0	4	3	4	3	5	1	1	1	5	1	2	3	rs186503666		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:2956249G>T	ENST00000314262.6	-	4	562	c.514C>A	c.(514-516)Ctt>Att	p.L172I	NOP14_ENST00000398071.4_Missense_Mutation_p.L172I|NOP14_ENST00000502735.1_Missense_Mutation_p.L172I|NOP14_ENST00000416614.2_Missense_Mutation_p.L172I|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	172					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						TTCTTGTGAAGGAGCCCACCG	0.557																																																	0													88	84	86					4																	2956249		2203	4300	6503	SO:0001583	missense	0			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.514C>A	4.37:g.2956249G>T	ENSP00000315674:p.Leu172Ile		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.L172I	ENST00000314262.6	37	c.514	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513373	0.44660	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.82	3.96	0.45880	.	0.259016	0.39544	N	0.001321	T	0.46814	0.1412	M	0.85299	2.745	0.45747	D	0.998649	P;P	0.49185	0.759;0.92	B;P	0.47626	0.237;0.552	T	0.58803	-0.7572	10	0.87932	D	0	-1.1005	14.5178	0.67830	0.0:0.1481:0.8519:0.0	.	172;172	E9PFK5;P78316	.;NOP14_HUMAN	I	172;172;172;172;71	ENSP00000405068:L172I;ENSP00000315674:L172I;ENSP00000427415:L172I;ENSP00000381146:L172I	ENSP00000315674:L172I	L	-	1	0	NOP14	2926047	1.000000	0.71417	0.002000	0.10522	0.004000	0.04260	7.403000	0.79983	0.994000	0.38892	0.655000	0.94253	CTT	NOP14	-	pfam_Nop14	ENSG00000087269		0.557	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	-	0	52	0	G	NM_003703		2956249	-1	tier1	-	no_errors	ENST00000416614	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.997	T	T	2956249	G	T	2956249	3	4	163	1	0	0	0	0	1	0	0	0	10575	1000	35	3	2119	3	NOP14	4	2956249	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2870253	2956249	188198027	84	41289											
CC2D2A	57545	genome.wustl.edu	37	chr4	15477593	15477593	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtaaaaataattacaGaggtaagtggccactttgat	19	10	8	4	0	0	2	0	1	0	1	0	2	0	2	1	2	1	2	1	2	8	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:15477593G>T	ENST00000503292.1	+	3	217	c.37G>T	c.(37-39)Gag>Tag	p.E13*	CC2D2A_ENST00000507954.1_Nonsense_Mutation_p.E13*|CC2D2A_ENST00000511544.1_Nonsense_Mutation_p.E13*|CC2D2A_ENST00000503658.1_Nonsense_Mutation_p.E13*|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000438599.2_Nonsense_Mutation_p.E13*|CC2D2A_ENST00000424120.1_Nonsense_Mutation_p.E13*|CC2D2A_ENST00000515124.1_Nonsense_Mutation_p.E13*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.E13*	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	13					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AATAATTACAGAGGTAAGTGG	0.408																																																	0													64	62	63					4																	15477593		1888	4114	6002	SO:0001587	stop_gained	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.37G>T	4.37:g.15477593G>T	ENSP00000421809:p.Glu13*		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Nonsense_Mutation	SNP	superfamily_C2_dom,smart_C2_dom	p.E13*	ENST00000503292.1	37	c.37	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.537591	0.96460	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000438599;ENST00000511544;ENST00000512702;ENST00000507954;ENST00000515124;ENST00000503292;ENST00000503658	.	.	.	3.59	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	11.0425	0.47840	0.0:0.0:1.0:0.0	.	.	.	.	X	13	.	ENSP00000398391:E13X	E	+	1	0	CC2D2A	15086691	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.817000	0.55668	2.304000	0.77564	0.650000	0.86243	GAG	CC2D2A	-	NULL	ENSG00000048342		0.408	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2		0	73	0	G	NM_001080522		15477593	1			no_errors	ENST00000413206	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T	T	15477593	G	T	15477593	4	4	163	1	0	0	0	0	0	1	0	0	2735	943	33	3	39	3	CC2D2A	4	15477593	Nonsense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	12521344	15477593	175676683	85	41290											
PPARGC1A	10891	genome.wustl.edu	37	chr4	23815507	23815507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagaaggagacacattgaaCaatgaataggattgcgtgcc	16	7	11	7	1	0	4	0	2	0	2	0	6	0	5	1	2	3	0	1	2	6	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:23815507C>T	ENST00000264867.2	-	8	1718	c.1599G>A	c.(1597-1599)ttG>ttA	p.L533L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	533	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ACACATTGAACAATGAATAGG	0.423																																					Esophageal Squamous(29;694 744 13796 34866 44181)												0													139	133	135					4																	23815507		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1599G>A	4.37:g.23815507C>T			B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L533	ENST00000264867.2	37	c.1599	CCDS3429.1	4																																																																																			PPARGC1A	-	NULL	ENSG00000109819		0.423	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1	-	0	31	0	C	NM_013261		23815507	-1	tier1	-	no_errors	ENST00000264867	ensembl	human	known	74_37	silent	20.00	12	3	SNP	1.000	T	T	23815507	C	T	23815507	2	4	163	1	0	0	0	0	0	0	0	1	12339	477	17	3		3	PPARGC1A	4	23815507	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	8337914	23815507	167338769	86	41291											
RBPJ	3516	genome.wustl.edu	37	chr4	26417097	26417098	+	Splice_Site	INS	-	-	T																															ttcccctattattcttcaggINStttttttgcccacctccttg																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:26417097_26417098insT	ENST00000361572.6	+	4	389_390	c.195_196insT	c.(196-198)ttt>Tttt	p.F66fs	RBPJ_ENST00000348160.4_Splice_Site_p.F53fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000342295.1_Splice_Site_p.F66fs|RBPJ_ENST00000507561.1_Splice_Site_p.F31fs|RBPJ_ENST00000504907.1_Splice_Site_p.F52fs|RBPJ_ENST00000355476.3_Splice_Site_p.F52fs|RBPJ_ENST00000345843.3_Splice_Site_p.F51fs|RBPJ_ENST00000342320.4_Splice_Site_p.F52fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	66					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)	p.R51S(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TATTCTTCAGGTTTTTTTGCCC	0.332																																																	1	Substitution - Missense(1)	central_nervous_system(1)																																								SO:0001630	splice_region_variant	0			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.195-1->T	4.37:g.26417104_26417104dupT			B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Ins	INS	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.C67fs	ENST00000361572.6	37	c.195_196	CCDS3437.1	4																																																																																			RBPJ	-	pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000168214		0.332	RBPJ-002	KNOWN	basic|CCDS	protein_coding	RBPJ	HGNC	protein_coding	OTTHUMT00000215046.2		0	28	0	0	NM_015874	Frame_Shift_Ins	26417098	1			no_errors	ENST00000342295	ensembl	human	known	74_37	frame_shift_ins	31.25	11	5	INS	1.000:1.000	T	T	26417098	-	T	26417097	8	5	163	1	0	1	1	0	0	0	1	0	13206	1275	44	0	272	0	RBPJ	4	26417097	Splice_Site	INS	-	TCGA-VR-A8EQ-01A-11D-A36J-09	2601590	26417097	164737179	87	41292											
PCDH7	5099	genome.wustl.edu	37	chr4	30723471	30723471	+	Frame_Shift_Del	DEL	T	T	-																															tcaacgacaacacgcccaccTtcccgtcgcccgtgctcacg																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:30723471delT	ENST00000361762.2	+	1	1435	c.427delT	c.(427-429)ttcfs	p.F143fs	PCDH7_ENST00000543491.1_Frame_Shift_Del_p.F143fs	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	143	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CACGCCCACCTTCCCGTCGCC	0.647																																																	0													37	28	31					4																	30723471		2203	4300	6503	SO:0001589	frameshift_variant	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.427delT	4.37:g.30723471delT	ENSP00000355243:p.Phe143fs		O60246|O60247|Q4W5C4	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F143fs	ENST00000361762.2	37	c.427	CCDS33971.1	4																																																																																			PCDH7	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000169851		0.647	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1		0	56	0	T	NM_032457, NM_002589		30723471	1	tier1		no_errors	ENST00000543491	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	1.000	-	-	30723471	T	-	30723471	7	5	163	1	0	1	0	1	0	0	0	0	11555	1609	56	0	429	0	PCDH7	4	30723471	Frame_Shift_Del	DEL	T	TCGA-VR-A8EQ-01A-11D-A36J-09	4306374	30723471	160430805	88	41293											
UGT2B28	54490	genome.wustl.edu	37	chr4	70146388	70146388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tcatgaggtgactgtactggCatcttcagcttccattcttt	7	16	8	10	0	4	2	2	2	2	0	5	2	5	2	1	2	2	3	1	2	1	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:70146388C>A	ENST00000335568.5	+	1	172	c.170C>A	c.(169-171)gCa>gAa	p.A57E	UGT2B28_ENST00000511240.1_Missense_Mutation_p.A57E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	57					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						ACTGTACTGGCATCTTCAGCT	0.408																																																	0													106	127	120					4																	70146388		2085	4253	6338	SO:0001583	missense	0			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.170C>A	4.37:g.70146388C>A	ENSP00000334276:p.Ala57Glu		B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.A57E	ENST00000335568.5	37	c.170	CCDS3528.1	4	.	.	.	.	.	.	.	.	.	.	-	2.741	-0.262233	0.05791	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.62498	0.02;0.02	2.18	-1.51	0.08664	.	0.427258	0.18758	U	0.131963	T	0.68035	0.2957	M	0.74467	2.265	0.09310	N	1	D;P	0.59767	0.986;0.585	D;P	0.63283	0.913;0.589	T	0.58629	-0.7603	10	0.44086	T	0.13	.	3.7429	0.08537	0.0:0.3024:0.41:0.2876	.	57;57	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	E	57	ENSP00000334276:A57E;ENSP00000427399:A57E	ENSP00000334276:A57E	A	+	2	0	UGT2B28	70180977	0.000000	0.05858	0.027000	0.17364	0.020000	0.10135	0.128000	0.15810	-0.633000	0.05545	0.184000	0.17185	GCA	UGT2B28	-	pfam_UDP_glucos_trans	ENSG00000135226		0.408	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B28	HGNC	protein_coding	OTTHUMT00000251557.2		0	159	0	C	NM_053039		70146388	1			no_errors	ENST00000335568	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.003	A	A	70146388	C	A	70146388	3	1	163	1	0	0	0	0	1	0	0	0	17009	710	25	3	172	3	UGT2B28	4	70146388	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	39422917	70146388	121007888	89	41294											
BMP3	651	genome.wustl.edu	37	chr4	81952745	81952745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggttcgcagctttcgggcgGcagcagcaggtgagtgcgcg	5	7	18	11	6	0	1	0	1	0	0	2	1	0	1	0	4	4	6	0	4	0	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:81952745G>T	ENST00000282701.2	+	1	627	c.307G>T	c.(307-309)Gca>Tca	p.A103S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	103					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CTTTCGGGCGGCAGCAGCAGG	0.716																																																	0													8	9	9					4																	81952745		2181	4255	6436	SO:0001583	missense	0			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.307G>T	4.37:g.81952745G>T	ENSP00000282701:p.Ala103Ser		Q4VAS5	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.A103S	ENST00000282701.2	37	c.307	CCDS3588.1	4	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.292054	0.01375	.	.	ENSG00000152785	ENST00000282701	T	0.64085	-0.08	5.04	0.0995	0.14503	Transforming growth factor-beta, N-terminal (1);	0.663949	0.13982	N	0.349403	T	0.39655	0.1086	N	0.25647	0.755	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.21280	-1.0250	10	0.10111	T	0.7	.	5.677	0.17753	0.3034:0.3643:0.3322:0.0	.	103	P12645	BMP3_HUMAN	S	103	ENSP00000282701:A103S	ENSP00000282701:A103S	A	+	1	0	BMP3	82171769	0.000000	0.05858	0.014000	0.15608	0.015000	0.08874	-0.008000	0.12788	0.050000	0.15949	-0.150000	0.13652	GCA	BMP3	-	pfam_TGF-b_N,pirsf_BMP3/GDF10	ENSG00000152785		0.716	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP3	HGNC	protein_coding	OTTHUMT00000252634.1	-	0	19	0	G			81952745	1	tier1	-	no_errors	ENST00000282701	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.000	T	T	81952745	G	T	81952745	3	4	163	1	0	0	0	0	1	0	0	0	1463	1203	42	3	309	3	BMP3	4	81952745	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	11806357	81952745	109201531	90	41295											
MEPE	56955	genome.wustl.edu	37	chr4	88766811	88766811	+	Missense_Mutation	SNP	A	A	G	1	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	ggacggccaaccttttaaggAcattcctggtaaaggagaag	13	8	12	8	1	0	1	0	0	0	1	1	4	1	3	3	5	1	1	3	5	5	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:88766811A>G	ENST00000424957.3	+	4	864	c.791A>G	c.(790-792)gAc>gGc	p.D264G	MEPE_ENST00000497649.2_Missense_Mutation_p.D240G|MEPE_ENST00000560249.1_Missense_Mutation_p.D151G|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.D151G|MEPE_ENST00000395102.4_Missense_Mutation_p.D295G|MEPE_ENST00000361056.3_Missense_Mutation_p.D264G	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	264					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CCTTTTAAGGACATTCCTGGT	0.458																																																	0													59	58	59					4																	88766811		2203	4300	6503	SO:0001583	missense	0			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.791A>G	4.37:g.88766811A>G	ENSP00000416984:p.Asp264Gly		A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	pfam_Osteoregulin	p.D264G	ENST00000424957.3	37	c.791	CCDS3625.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.08|13.08	2.130316|2.130316	0.37630|0.37630	.|.	.|.	ENSG00000152595|ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056|ENST00000535138	T;T;T;T;T|.	0.49432|.	0.78;0.79;0.78;0.79;0.78|.	3.84|3.84	2.67|2.67	0.31697|0.31697	.|.	0.273130|.	0.26496|.	N|.	0.024046|.	T|T	0.49355|0.49355	0.1552|0.1552	M|M	0.74258|0.74258	2.255|2.255	0.26592|0.26592	N|N	0.973183|0.973183	B|.	0.31817|.	0.341|.	B|.	0.31869|.	0.137|.	T|T	0.46596|0.46596	-0.9180|-0.9180	10|6	0.54805|0.72032	T|D	0.06|0.01	-15.3475|-15.3475	5.9596|5.9596	0.19293|0.19293	0.8837:0.0:0.1163:0.0|0.8837:0.0:0.1163:0.0	.|.	264|.	Q9NQ76|.	MEPE_HUMAN|.	G|A	264;295;240;151;264|264	ENSP00000416984:D264G;ENSP00000378534:D295G;ENSP00000422747:D240G;ENSP00000443491:D151G;ENSP00000354341:D264G|.	ENSP00000354341:D264G|ENSP00000445423:T264A	D|T	+|+	2|1	0|0	MEPE|MEPE	88985835|88985835	0.442000|0.442000	0.25633|0.25633	0.867000|0.867000	0.34043|0.34043	0.916000|0.916000	0.54674|0.54674	2.528000|2.528000	0.45624|0.45624	0.850000|0.850000	0.35239|0.35239	0.459000|0.459000	0.35465|0.35465	GAC|ACA	MEPE	-	NULL	ENSG00000152595		0.458	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	-	0	28	0	A			88766811	1	tier1	-	no_errors	ENST00000361056	ensembl	human	known	74_37	missense	43.75	9	7	SNP	0.907	G	G	88766811	A	G	88766811	3	3	163	1	0	0	0	0	1	0	0	0	9516	275	10	4	801	4	MEPE	4	88766811	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	6814066	88766811	102387465	91	41296											
MANBA	4126	genome.wustl.edu	37	chr4	103578863	103578863	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctaatgtactgaaggacggCcaggactgatatccatattc	12	11	9	9	1	1	2	0	2	1	0	3	4	2	4	2	3	1	1	2	3	5	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:103578863C>T	ENST00000226578.4	-	12	1779	c.1680G>A	c.(1678-1680)tgG>tgA	p.W560*	MANBA_ENST00000505239.1_Nonsense_Mutation_p.W503*	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	560					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TGAAGGACGGCCAGGACTGAT	0.373																																																	0													100	94	96					4																	103578863		2203	4300	6503	SO:0001587	stop_gained	0				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1680G>A	4.37:g.103578863C>T	ENSP00000226578:p.Trp560*		Q96BC3|Q9NYX9	Nonsense_Mutation	SNP	pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like	p.W560*	ENST00000226578.4	37	c.1680	CCDS3658.1	4	.	.	.	.	.	.	.	.	.	.	C	39	7.527847	0.98339	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5262	18.8133	0.92068	0.0:1.0:0.0:0.0	.	.	.	.	X	560;503	.	ENSP00000226578:W560X	W	-	3	0	MANBA	103797911	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.403000	0.79983	2.438000	0.82558	0.650000	0.86243	TGG	MANBA	-	superfamily_Glycoside_hydrolase_SF	ENSG00000109323		0.373	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MANBA	HGNC	protein_coding	OTTHUMT00000253803.2		0	70	0	C			103578863	-1			no_errors	ENST00000226578	ensembl	human	known	74_37	nonsense	13.64	19	3	SNP	1.000	T	T	103578863	C	T	103578863	4	4	163	1	0	0	0	0	0	1	0	0	9257	740	26	3	983	3	MANBA	4	103578863	Nonsense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	14812052	103578863	87575413	92	41297											
GRIA2	2891	genome.wustl.edu	37	chr4	158224713	158224713	+	Missense_Mutation	SNP	A	A	G	1	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	tattcttctagtctgctcccAgttttcgagaggagtctatg	7	16	9	9	1	4	1	0	0	4	1	6	3	5	2	1	1	1	2	1	1	3	7			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:158224713A>G	ENST00000264426.9	+	3	518	c.239A>G	c.(238-240)cAg>cGg	p.Q80R	GRIA2_ENST00000296526.7_Missense_Mutation_p.Q80R|GRIA2_ENST00000507898.1_Missense_Mutation_p.Q33R|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000449365.1_Missense_Mutation_p.Q33R|GRIA2_ENST00000393815.2_Missense_Mutation_p.Q33R	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	80					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)	GTCTGCTCCCAGTTTTCGAGA	0.348																																																	0													96	95	96					4																	158224713		2203	4300	6503	SO:0001583	missense	0				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.239A>G	4.37:g.158224713A>G	ENSP00000264426:p.Gln80Arg		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q80R	ENST00000264426.9	37	c.239	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461247	0.84317	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000506284;ENST00000505888;ENST00000449365	T;T;T;T;T;D;T;T	0.83506	1.97;1.97;1.97;1.97;1.97;-1.73;1.97;1.97	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	L	0.59436	1.845	0.80722	D	1	D;P;D	0.71674	0.998;0.591;0.976	D;B;D	0.85130	0.997;0.416;0.98	D	0.90533	0.4497	10	0.87932	D	0	.	16.1438	0.81548	1.0:0.0:0.0:0.0	.	80;80;33	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	R	33;33;80;80;80;33;33;33	ENSP00000426845:Q33R;ENSP00000377403:Q33R;ENSP00000425217:Q80R;ENSP00000296526:Q80R;ENSP00000264426:Q80R;ENSP00000426513:Q33R;ENSP00000422038:Q33R;ENSP00000389837:Q33R	ENSP00000264426:Q80R	Q	+	2	0	GRIA2	158444163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.297000	0.96120	2.210000	0.71456	0.528000	0.53228	CAG	GRIA2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000120251		0.348	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	-	0	68	0	A			158224713	1	tier1	-	no_errors	ENST00000264426	ensembl	human	known	74_37	missense	39.34	37	24	SNP	1.000	G	G	158224713	A	G	158224713	3	3	163	1	0	0	0	0	1	0	0	0	6795	188	7	4	249	4	GRIA2	4	158224713	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	54645850	158224713	32929563	93	41298											
NPY5R	4889	genome.wustl.edu	37	chr4	164272519	164272519	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aataaaaaagagatctcgaaGtgttttctacagactgacca	17	10	7	7	1	2	3	0	1	2	2	3	5	2	3	1	0	1	1	1	0	6	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:164272519G>T	ENST00000515560.1	+	4	2616	c.1094G>T	c.(1093-1095)aGt>aTt	p.S365I	NPY5R_ENST00000338566.3_Missense_Mutation_p.S365I|NPY5R_ENST00000506953.1_Missense_Mutation_p.S365I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	365					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.S365I(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AGATCTCGAAGTGTTTTCTAC	0.353																																					Melanoma(139;1287 1774 9781 19750 25599)												1	Substitution - Missense(1)	lung(1)											122	116	118					4																	164272519		2203	4300	6503	SO:0001583	missense	0			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1094G>T	4.37:g.164272519G>T	ENSP00000423917:p.Ser365Ile		Q6GTR7|Q92916	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S365I	ENST00000515560.1	37	c.1094	CCDS3804.1	4	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443395	0.43429	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.37915	1.17;1.17;1.17	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.325852	0.25642	N	0.029268	T	0.37625	0.1010	L	0.46157	1.445	0.26632	N	0.97245	P	0.46142	0.873	P	0.45998	0.5	T	0.32534	-0.9903	10	0.62326	D	0.03	.	12.5668	0.56314	0.0827:0.0:0.9173:0.0	.	365	Q15761	NPY5R_HUMAN	I	365	ENSP00000339377:S365I;ENSP00000423917:S365I;ENSP00000423474:S365I	ENSP00000339377:S365I	S	+	2	0	NPY5R	164491969	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.017000	0.49615	2.428000	0.82296	0.460000	0.39030	AGT	NPY5R	-	pfam_GPCR_Rhodpsn,prints_NPY5_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000164129		0.353	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY5R	HGNC	protein_coding	OTTHUMT00000364633.1		0	51	0	G	NM_006174		164272519	1			no_errors	ENST00000338566	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.994	T	T	164272519	G	T	164272519	3	4	163	1	0	0	0	0	1	0	0	0	10649	1029	36	3	1096	3	NPY5R	4	164272519	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	6047806	164272519	26881757	94	41299											
DDX60	55601	genome.wustl.edu	37	chr4	169172191	169172191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatatccaatacccctttCtgccaaggctttcaattctt	10	15	4	12	0	3	1	1	1	2	0	4	1	4	1	4	1	2	1	4	1	5	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:169172191C>T	ENST00000393743.3	-	28	4063	c.3772G>A	c.(3772-3774)Gaa>Aaa	p.E1258K	DDX60_ENST00000505393.1_5'Flank	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1258	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATACCCCTTTCTGCCAAGGCT	0.338																																																	0													112	117	115					4																	169172191		2201	4300	6501	SO:0001583	missense	0			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.3772G>A	4.37:g.169172191C>T	ENSP00000377344:p.Glu1258Lys		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1258K	ENST00000393743.3	37	c.3772	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	6.004	0.369086	0.11352	.	.	ENSG00000137628	ENST00000393743	T	0.71103	-0.54	5.3	-10.6	0.00265	Helicase, C-terminal (2);	2.199350	0.01523	N	0.018441	T	0.33059	0.0850	N	0.02158	-0.66	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.35943	-0.9768	10	0.05833	T	0.94	.	5.9082	0.19012	0.0699:0.1857:0.1938:0.5506	.	1258	Q8IY21	DDX60_HUMAN	K	1258	ENSP00000377344:E1258K	ENSP00000377344:E1258K	E	-	1	0	DDX60	169408766	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-3.944000	0.00329	-2.264000	0.00689	-0.499000	0.04595	GAA	DDX60	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000137628		0.338	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1		0	123	0	C	NM_017631		169172191	-1			no_errors	ENST00000393743	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.000	T	T	169172191	C	T	169172191	3	4	163	1	0	0	0	0	1	0	0	0	4387	922	32	3	1410	3	DDX60	4	169172191	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	4899672	169172191	21982085	95	41300											
FRG1	2483	genome.wustl.edu	37	chr4	190884267	190884267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagccaaattgaaagccGacagatactgcaagtgactg	15	6	12	8	1	0	4	0	2	0	2	0	6	0	4	2	1	4	1	2	1	4	2	rs373037319		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr4:190884267G>T	ENST00000226798.4	+	9	982	c.760G>T	c.(760-762)Gac>Tac	p.D254Y		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	0			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>T	4.37:g.190884267G>T	ENSP00000226798:p.Asp254Tyr		A8K775	Missense_Mutation	SNP	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	p.D254Y	ENST00000226798.4	37	c.760	CCDS34121.1	4	.	.	.	.	.	.	.	.	.	.	.	18.00	3.526175	0.64860	.	.	ENSG00000109536	ENST00000226798	T	0.66815	-0.23	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	D	0.83811	0.5335	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87691	0.2554	10	0.87932	D	0	-19.8783	14.0213	0.64558	0.0:0.0:1.0:0.0	.	254	Q14331	FRG1_HUMAN	Y	254	ENSP00000226798:D254Y	ENSP00000226798:D254Y	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	FRG1	-	pfam_FRG1	ENSG00000109536		0.299	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4		0	46	0	G	NM_004477		190884267	1			no_errors	ENST00000226798	ensembl	human	known	74_37	missense	9.09	29	3	SNP	1.000	T	T	190884267	G	T	190884267	3	4	163	1	0	0	0	0	1	0	0	0	6070	1058	37	2	794	2	FRG1	4	190884267	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	21712076	190884267	270009	96	41301											
SEMA5A	9037	genome.wustl.edu	37	chr5	9197360	9197360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgaagggcccagagaaggCctgcgcgatggcgctcaggt	8	6	16	11	3	1	2	1	1	0	1	1	4	1	2	2	4	1	1	2	4	2	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:9197360C>T	ENST00000382496.5	-	10	1653	c.988G>A	c.(988-990)Gcc>Acc	p.A330T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	330	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCAGAGAAGGCCTGCGCGATG	0.602																																																	0													86	86	86					5																	9197360		2203	4300	6503	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.988G>A	5.37:g.9197360C>T	ENSP00000371936:p.Ala330Thr		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.A330T	ENST00000382496.5	37	c.988	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255746	0.39896	.	.	ENSG00000112902	ENST00000382496	T	0.11821	2.74	5.28	3.42	0.39159	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.224065	0.46758	D	0.000272	T	0.11239	0.0274	L	0.38175	1.15	0.41967	D	0.990736	B	0.15141	0.012	B	0.20955	0.032	T	0.07443	-1.0772	10	0.54805	T	0.06	.	8.3524	0.32310	0.0:0.7524:0.1604:0.0871	.	330	Q13591	SEM5A_HUMAN	T	330	ENSP00000371936:A330T	ENSP00000371936:A330T	A	-	1	0	SEMA5A	9250360	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	3.191000	0.50981	1.301000	0.44836	0.603000	0.83216	GCC	SEMA5A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000112902		0.602	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2		0	104	0	C			9197360	-1			no_errors	ENST00000382496	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	9197360	C	T	9197360	3	4	163	1	0	0	0	0	1	0	0	0	14082	739	26	3	2292	3	SEMA5A	5	9197360	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09		9197360	171717900	97	41302											
DNAH5	1767	genome.wustl.edu	37	chr5	13717530	13717530	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaccccagggcaccgaacTtgcgcctctcctggacagtg	7	7	10	17	2	1	0	0	0	1	0	3	2	2	1	6	2	2	1	6	2	1	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:13717530T>G	ENST00000265104.4	-	73	12703	c.12599A>C	c.(12598-12600)aAg>aCg	p.K4200T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4200	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K4200T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCACCGAACTTGCGCCTCTC	0.552									Kartagener syndrome																																								1	Substitution - Missense(1)	pancreas(1)											70	64	66					5																	13717530		2203	4300	6503	SO:0001583	missense	0	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.12599A>C	5.37:g.13717530T>G	ENSP00000265104:p.Lys4200Thr		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K4200T	ENST00000265104.4	37	c.12599	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546348	0.86022	.	.	ENSG00000039139	ENST00000265104	T	0.12147	2.71	5.45	5.45	0.79879	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63395	-0.6647	10	0.87932	D	0	.	15.5182	0.75842	0.0:0.0:0.0:1.0	.	4200	Q8TE73	DYH5_HUMAN	T	4200	ENSP00000265104:K4200T	ENSP00000265104:K4200T	K	-	2	0	DNAH5	13770530	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	8.020000	0.88740	2.067000	0.61834	0.533000	0.62120	AAG	DNAH5	-	pfam_Dynein_heavy_dom	ENSG00000039139		0.552	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	60	0	T	NM_001369		13717530	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	G	G	13717530	T	G	13717530	3	3	163	1	0	0	0	0	1	0	0	0	4618	1609	56	4	1303	4	DNAH5	5	13717530	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	4520170	13717530	167197730	98	41303											
DAB2	1601	genome.wustl.edu	37	chr5	39390560	39390560	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcacctgttgcccggtttTtatggcaaaaaactgatgct	9	13	9	10	1	1	1	1	1	0	0	1	1	1	1	2	2	3	5	2	2	4	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:39390560T>G	ENST00000320816.6	-	5	915	c.448A>C	c.(448-450)Aaa>Caa	p.K150Q	DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000509337.1_Missense_Mutation_p.K150Q|DAB2_ENST00000339788.6_Missense_Mutation_p.K150Q|DAB2_ENST00000545653.1_Missense_Mutation_p.K150Q	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	150	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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)			TGCCCGGTTTTTATGGCAAAA	0.458																																																	0													93	91	91					5																	39390560		2203	4300	6503	SO:0001583	missense	0			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.448A>C	5.37:g.39390560T>G	ENSP00000313391:p.Lys150Gln		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.K150Q	ENST00000320816.6	37	c.448	CCDS34149.1	5	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874639	0.91664	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.6	5.6	0.85130	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.41016	-0.9532	10	0.87932	D	0	-16.9535	16.0863	0.81056	0.0:0.0:0.0:1.0	.	150;150	P98082;P98082-3	DAB2_HUMAN;.	Q	150	ENSP00000313391:K150Q;ENSP00000345508:K150Q;ENSP00000439919:K150Q;ENSP00000426245:K150Q	ENSP00000313391:K150Q	K	-	1	0	DAB2	39426317	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.566000	0.82347	2.251000	0.74343	0.528000	0.53228	AAA	DAB2	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000153071		0.458	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAB2	HGNC	protein_coding	OTTHUMT00000367014.1	-	0	49	0	T	NM_001343		39390560	-1	tier1	-	no_errors	ENST00000320816	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	G	G	39390560	T	G	39390560	3	3	163	1	0	0	0	0	1	0	0	0	4227	1850	64	4	1904	4	DAB2	5	39390560	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	25673030	39390560	141524700	99	41304											
IL6ST	3572	genome.wustl.edu	37	chr5	55259205	55259205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccaagttgaggcatctttgGtcctatattgaatgttatat	10	17	8	6	0	1	2	0	2	1	0	3	2	3	2	2	2	0	3	2	2	6	7			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:55259205G>T	ENST00000381298.2	-	7	1100	c.788C>A	c.(787-789)aCc>aAc	p.T263N	IL6ST_ENST00000536319.1_Missense_Mutation_p.T263N|IL6ST_ENST00000381293.2_Missense_Mutation_p.T97N|IL6ST_ENST00000381287.4_Missense_Mutation_p.T263N|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.T263N|IL6ST_ENST00000522633.2_Missense_Mutation_p.T263N|IL6ST_ENST00000336909.5_Missense_Mutation_p.T263N|IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000502326.3_Missense_Mutation_p.T263N	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	263	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GGCATCTTTGGTCCTATATTG	0.333			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0													89	93	92					5																	55259205		2203	4297	6500	SO:0001583	missense	0			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.788C>A	5.37:g.55259205G>T	ENSP00000370698:p.Thr263Asn		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T263N	ENST00000381298.2	37	c.788	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784351	0.31593	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.91	4.05	0.47172	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.879360	0.10010	N	0.727379	T	0.55970	0.1954	L	0.59436	1.845	0.26128	N	0.98046	D;B;B;B	0.55172	0.97;0.218;0.285;0.13	P;B;B;B	0.51918	0.684;0.125;0.12;0.117	T	0.40346	-0.9568	10	0.18276	T	0.48	.	8.6546	0.34055	0.1358:0.0:0.7387:0.1255	.	97;263;263;263	Q5FC05;Q5FC04;P40189-2;P40189	.;.;.;IL6RB_HUMAN	N	263;263;263;263;263;97;263;263	ENSP00000370698:T263N;ENSP00000338799:T263N;ENSP00000370694:T263N;ENSP00000370687:T263N;ENSP00000444456:T263N;ENSP00000370693:T97N;ENSP00000435399:T263N	ENSP00000338799:T263N	T	-	2	0	IL6ST	55294962	0.650000	0.27331	0.981000	0.43875	0.734000	0.41952	1.799000	0.38824	1.483000	0.48342	0.655000	0.94253	ACC	IL6ST	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000134352		0.333	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	-	0	141	0	G	NM_002184		55259205	-1	tier1	-	no_errors	ENST00000336909	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.207	T	T	55259205	G	T	55259205	3	4	163	1	0	0	0	0	1	0	0	0	7730	1261	44	3	2012	3	IL6ST	5	55259205	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	15868645	55259205	125656055	100	41305											
KIF2A	3796	genome.wustl.edu	37	chr5	61657076	61657076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttatttttaaggtttactGctagaccactagtggaaact	11	17	7	6	0	0	1	0	0	0	1	0	2	0	2	1	2	3	2	1	2	6	9			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:61657076G>T	ENST00000401507.3	+	10	1191	c.880G>T	c.(880-882)Gct>Tct	p.A294S	KIF2A_ENST00000381103.2_Missense_Mutation_p.A274S|KIF2A_ENST00000407818.3_Missense_Mutation_p.A294S|KIF2A_ENST00000506857.1_Missense_Mutation_p.A248S|KIF2A_ENST00000509663.2_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	294	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)		AAGGTTTACTGCTAGACCACT	0.303																																																	0													63	63	63					5																	61657076		2203	4299	6502	SO:0001583	missense	0			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.880G>T	5.37:g.61657076G>T	ENSP00000385622:p.Ala294Ser		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A294S	ENST00000401507.3	37	c.880	CCDS3980.2	5	.	.	.	.	.	.	.	.	.	.	G	32	5.191998	0.94923	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000506857	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	5.23	5.23	0.72850	Kinesin, motor domain (4);	0.049290	0.85682	D	0.000000	T	0.47875	0.1469	M	0.71581	2.175	0.80722	D	1	D;D;D;P	0.64830	0.993;0.992;0.994;0.936	D;D;D;D	0.71414	0.973;0.954;0.96;0.956	T	0.49643	-0.8918	10	0.87932	D	0	.	18.8067	0.92040	0.0:0.0:1.0:0.0	.	294;294;294;274	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	S	294;274;275;294;248	ENSP00000385622:A294S;ENSP00000370493:A274S;ENSP00000423542:A275S;ENSP00000385000:A294S;ENSP00000423772:A248S	ENSP00000370493:A274S	A	+	1	0	KIF2A	61692833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.453000	0.82957	0.650000	0.86243	GCT	KIF2A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000068796		0.303	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	-	0	76	0	G	NM_004520		61657076	1	tier1	-	no_errors	ENST00000407818	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	61657076	G	T	61657076	3	4	163	1	0	0	0	0	1	0	0	0	8324	1319	46	3	918	3	KIF2A	5	61657076	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	6397871	61657076	119258184	101	41306											
ARSB	411	genome.wustl.edu	37	chr5	78181610	78181610	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccattttcttcctcgaagGggccagttattaccccctgc	6	13	7	15	1	1	0	0	0	1	0	4	1	3	0	5	2	2	1	5	2	3	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:78181610G>T	ENST00000264914.4	-	5	1475	c.939C>A	c.(937-939)ccC>ccA	p.P313P	ARSB_ENST00000521800.1_5'UTR|ARSB_ENST00000396151.3_Silent_p.P313P|ARSB_ENST00000565165.1_Silent_p.P313P	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	313					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|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)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TTCCTCGAAGGGGCCAGTTAT	0.522																																					Melanoma(169;563 1968 25780 26156 52266)												0													98	103	101					5																	78181610		2203	4300	6503	SO:0001819	synonymous_variant	0			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.939C>A	5.37:g.78181610G>T			B2RC20|Q8N322|Q9UDI9	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.P313	ENST00000264914.4	37	c.939	CCDS4043.1	5																																																																																			ARSB	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000113273		0.522	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSB	HGNC	protein_coding	OTTHUMT00000226932.2	-	0	81	0	G	NM_000046		78181610	-1	tier1	-	no_errors	ENST00000264914	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.950	T	T	78181610	G	T	78181610	2	4	163	1	0	0	0	0	0	0	0	1	989	1219	43	3		3	ARSB	5	78181610	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	16524534	78181610	102733650	102	41307											
CAMK4	814	genome.wustl.edu	37	chr5	110730420	110730420	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttccaggattgtggaaaaGggatattacagtgagcgaga	13	10	14	4	1	0	2	0	1	0	1	1	6	1	5	1	3	2	1	1	3	4	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:110730420G>A	ENST00000282356.4	+	5	797	c.399G>A	c.(397-399)aaG>aaA	p.K133K	CAMK4_ENST00000512453.1_Silent_p.K133K	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		TTGTGGAAAAGGGATATTACA	0.368																																																	0													153	153	153					5																	110730420		2202	4300	6502	SO:0001819	synonymous_variant	0			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.399G>A	5.37:g.110730420G>A			D3DSZ7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.G106R	ENST00000282356.4	37	c.316	CCDS4103.1	5																																																																																			CAMK4	-	pfscan_Prot_kinase_dom	ENSG00000152495		0.368	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK4	HGNC	protein_coding	OTTHUMT00000250719.2	-	0	72	0	G	NM_001744		110730420	1	tier1	-	no_errors	ENST00000514007	ensembl	human	known	74_37	missense	23.81	31	10	SNP	0.967	A	A	110730420	G	A	110730420	2	1	163	1	0	0	0	0	0	0	0	1	2612	991	35	3		3	CAMK4	5	110730420	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	32548810	110730420	70184840	103	41308											
AQPEP	206338	genome.wustl.edu	37	chr5	115327967	115327967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttgtctcccacgagattgGacaccaggcatgtggtaaaa	11	10	11	9	1	1	1	0	0	1	1	2	3	1	2	2	3	0	3	2	3	2	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:115327967G>T	ENST00000357872.4	+	5	1377	c.1253G>T	c.(1252-1254)gGa>gTa	p.G418V	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		418						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CACGAGATTGGACACCAGGCA	0.393																																																	0													122	127	126					5																	115327967		2202	4300	6502	SO:0001583	missense	0																														ENST00000357872.4:c.1253G>T	5.37:g.115327967G>T	ENSP00000350541:p.Gly418Val		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G418V	ENST00000357872.4	37	c.1253	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129077	0.37533	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.04502	3.61	5.81	2.83	0.33086	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.303270	0.26654	N	0.023199	T	0.05593	0.0147	N	0.25286	0.73	0.80722	D	1	P	0.38223	0.623	B	0.43838	0.433	T	0.50389	-0.8834	10	0.38643	T	0.18	.	12.551	0.56225	0.0:0.3247:0.568:0.1073	.	418	Q6Q4G3	AMPQ_HUMAN	V	418;407	ENSP00000350541:G418V	ENSP00000350541:G418V	G	+	2	0	AC010282.1	115355866	1.000000	0.71417	0.984000	0.44739	0.963000	0.63663	1.159000	0.31749	0.767000	0.33267	-0.150000	0.13652	GGA	AQPEP	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000172901		0.393	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_gn	protein_coding	OTTHUMT00000250852.1		0	101	0	G			115327967	1			no_errors	ENST00000357872	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.972	T	T	115327967	G	T	115327967	3	4	163	1	0	0	0	0	1	0	0	0	834	1174	41	3	1271	3	AQPEP	5	115327967	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	4597547	115327967	65587293	104	41309											
RAD50	10111	genome.wustl.edu	37	chr5	131893062	131893062	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggcgtgcggagttttGgaatagaggacaaagataag	12	10	15	4	2	1	2	0	0	1	2	1	5	1	5	0	4	1	1	0	4	4	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:131893062G>T	ENST00000265335.6	+	1	433	c.46G>T	c.(46-48)Gga>Tga	p.G16*	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	16					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGGAGTTTTGGAATAGAGGA	0.478								Homologous recombination																																									0													120	126	124					5																	131893062		2203	4300	6503	SO:0001587	stop_gained	0			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.46G>T	5.37:g.131893062G>T	ENSP00000265335:p.Gly16*		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Nonsense_Mutation	SNP	pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	p.G16*	ENST00000265335.6	37	c.46	CCDS34233.1	5	.	.	.	.	.	.	.	.	.	.	G	42	9.524019	0.99195	.	.	ENSG00000113522	ENST00000265335;ENST00000453394	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9293	17.3711	0.87377	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000265335:G16X	G	+	1	0	RAD50	131920961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.201000	0.95017	2.700000	0.92200	0.655000	0.94253	GGA	RAD50	-	superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes	ENSG00000113522		0.478	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	-	0	82	0	G	NM_005732		131893062	1	tier1	-	no_errors	ENST00000265335	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T	T	131893062	G	T	131893062	4	4	163	1	0	0	0	0	0	1	0	0	13029	1349	47	3	48	3	RAD50	5	131893062	Nonsense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	16565095	131893062	49022198	105	41310											
PCDHA4	56144	genome.wustl.edu	37	chr5	140188701	140188701	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgaaacggacgctccGcgccaccgcctactggtact	8	6	11	16	6	0	0	0	0	0	0	1	3	1	2	4	3	3	2	4	3	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:140188701G>T	ENST00000530339.1	+	1	1929	c.1929G>T	c.(1927-1929)ccG>ccT	p.P643P	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.P643P|PCDHA4_ENST00000356878.4_Silent_p.P643P|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGACGCTCCGCGCCACCGCC	0.682																																																	0													77	79	78					5																	140188701		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1929G>T	5.37:g.140188701G>T			O75285|Q2M253	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P643	ENST00000530339.1	37	c.1929	CCDS54916.1	5																																																																																			PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.682	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2		0	67	0	G	NM_018907		140188701	1			no_errors	ENST00000530339	ensembl	human	known	74_37	silent	5.77	49	3	SNP	0.000	T	T	140188701	G	T	140188701	2	4	163	1	0	0	0	0	0	0	0	1	11565	1074	38	2		2	PCDHA4	5	140188701	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	8295639	140188701	40726559	106	41311											
PCDHB10	56126	genome.wustl.edu	37	chr5	140572811	140572811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgggacctctactgtacGcatcgttgtcttggacgtca	6	13	11	11	3	4	0	1	0	3	0	5	2	4	2	1	2	2	3	1	2	2	4	rs201669614		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:140572811G>A	ENST00000239446.4	+	1	870	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	229	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)			TCTACTGTACGCATCGTTGTC	0.547																																																	0													77	81	79					5																	140572811		2203	4300	6503	SO:0001583	missense	0			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.686G>A	5.37:g.140572811G>A	ENSP00000239446:p.Arg229His		Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R229H	ENST00000239446.4	37	c.686	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	G	0.109	-1.141008	0.01728	.	.	ENSG00000120324	ENST00000239446	T	0.01767	4.65	3.41	-0.677	0.11357	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01353	0.0044	N	0.17800	0.525	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.48468	-0.9033	9	0.18710	T	0.47	.	8.514	0.33235	0.4693:0.0:0.5307:0.0	.	229	Q9UN67	PCDBA_HUMAN	H	229	ENSP00000239446:R229H	ENSP00000239446:R229H	R	+	2	0	PCDHB10	140552995	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.497000	0.00969	-0.294000	0.08973	-0.264000	0.10439	CGC	PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120324		0.547	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1		0	70	0	G	NM_018930		140572811	1			no_errors	ENST00000239446	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.000	A	A	140572811	G	A	140572811	3	1	163	1	0	0	0	0	1	0	0	0	11574	1087	38	1	688	1	PCDHB10	5	140572811	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	384110	140572811	40342449	107	41312											
CCDC99	54908	genome.wustl.edu	37	chr5	169015479	169015479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaggctgaagaagagcGactaaaagctgcacagtatg	17	5	12	7	1	0	4	0	1	0	3	0	5	0	4	0	1	3	4	0	1	6	2	rs116483731	byFrequency	TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:169015479G>T	ENST00000265295.4	+	2	338	c.59G>T	c.(58-60)cGa>cTa	p.R20L	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GAAGAAGAGCGACTAAAAGCT	0.358																																																	0													90	88	89					5																	169015479		2203	4300	6503	SO:0001583	missense	0			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.59G>T	5.37:g.169015479G>T	ENSP00000265295:p.Arg20Leu			Missense_Mutation	SNP	NULL	p.R20L	ENST00000265295.4	37	c.59	CCDS4370.1	5	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779446	0.70107	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	T	0.27890	1.64	5.3	3.51	0.40186	.	0.310366	0.31404	N	0.007709	T	0.25457	0.0619	L	0.49126	1.545	0.37111	D	0.900347	P	0.35226	0.491	B	0.38225	0.268	T	0.11084	-1.0602	10	0.02654	T	1	-5.0017	11.5565	0.50750	0.1451:0.0:0.8549:0.0	.	20	Q96EA4	SPDLY_HUMAN	L	20	ENSP00000265295:R20L	ENSP00000265295:R20L	R	+	2	0	CCDC99	168948057	0.995000	0.38212	0.926000	0.36857	0.763000	0.43281	3.854000	0.55949	0.731000	0.32448	0.655000	0.94253	CGA	SPDL1	-	NULL	ENSG00000040275		0.358	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2	-	0	51	0	G	NM_017785		169015479	1	tier1	-	no_errors	ENST00000265295	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.972	T	T	169015479	G	T	169015479	3	4	163	1	0	0	0	0	1	0	0	0	2883	1058	37	2	61	2	CCDC99	5	169015479	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	28442668	169015479	11899781	108	41313											
ZFP2	80108	genome.wustl.edu	37	chr5	178358975	178358975	+	Frame_Shift_Del	DEL	A	A	-																															acaaatgtaatgaatgtggtAaagcttttacccaaagcatg																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:178358975delA	ENST00000361362.2	+	5	1191	c.661delA	c.(661-663)aaafs	p.K221fs	ZFP2_ENST00000520301.1_Frame_Shift_Del_p.K221fs|ZFP2_ENST00000503510.2_Frame_Shift_Del_p.K221fs|ZFP2_ENST00000523286.1_Frame_Shift_Del_p.K221fs	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TGAATGTGGTAAAGCTTTTAC	0.373																																																	0													46	49	48					5																	178358975		2203	4299	6502	SO:0001589	frameshift_variant	0			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"Zinc fingers, C2H2-type"	26138	protein-coding gene	gene with protein product			"zinc finger protein 2 homolog (mouse)"				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.661delA	5.37:g.178358975delA	ENSP00000354453:p.Lys221fs		A5PLN5|B7ZM23|Q9H6Z6	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A222fs	ENST00000361362.2	37	c.661	CCDS4440.1	5																																																																																			ZFP2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198939		0.373	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP2	HGNC	protein_coding	OTTHUMT00000253470.2		0	54	0	A	NM_030613		178358975	1	tier1		no_errors	ENST00000361362	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	1.000	-	-	178358975	A	-	178358975	7	5	163	1	0	1	0	1	0	0	0	0	17689	363	13	0	663	0	ZFP2	5	178358975	Frame_Shift_Del	DEL	A	TCGA-VR-A8EQ-01A-11D-A36J-09	9343496	178358975	2556285	109	41314											
ZFP2	80108	genome.wustl.edu	37	chr5	178359054	178359054	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	accctatgaatgtaatgaatGtggaaaagccttcagtcaaa	16	10	8	7	0	2	2	2	2	0	0	2	3	2	3	2	1	1	1	2	1	7	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:178359054G>A	ENST00000361362.2	+	5	1270	c.740G>A	c.(739-741)tGt>tAt	p.C247Y	ZFP2_ENST00000520301.1_Missense_Mutation_p.C247Y|ZFP2_ENST00000503510.2_Missense_Mutation_p.C247Y|ZFP2_ENST00000523286.1_Missense_Mutation_p.C247Y	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TGTAATGAATGTGGAAAAGCC	0.368																																																	0													63	65	64					5																	178359054		2203	4300	6503	SO:0001583	missense	0			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"Zinc fingers, C2H2-type"	26138	protein-coding gene	gene with protein product			"zinc finger protein 2 homolog (mouse)"				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.740G>A	5.37:g.178359054G>A	ENSP00000354453:p.Cys247Tyr		A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C247Y	ENST00000361362.2	37	c.740	CCDS4440.1	5	.	.	.	.	.	.	.	.	.	.	g	18.44	3.624431	0.66901	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34932	N	0.003568	D	0.95149	0.8428	H	0.97491	4.015	0.51233	D	0.999911	D	0.89917	1.0	D	0.97110	1.0	D	0.96647	0.9478	10	0.87932	D	0	-5.4427	15.707	0.77592	0.0:0.0:1.0:0.0	.	247	Q6ZN57	ZFP2_HUMAN	Y	247	ENSP00000354453:C247Y;ENSP00000430980:C247Y;ENSP00000430531:C247Y;ENSP00000438114:C247Y	ENSP00000354453:C247Y	C	+	2	0	ZFP2	178291660	1.000000	0.71417	0.897000	0.35233	0.971000	0.66376	7.581000	0.82535	2.549000	0.85964	0.650000	0.86243	TGT	ZFP2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198939		0.368	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP2	HGNC	protein_coding	OTTHUMT00000253470.2	-	0	53	0	G	NM_030613		178359054	1	tier1	-	no_errors	ENST00000361362	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	178359054	G	A	178359054	3	1	163	1	0	0	0	0	1	0	0	0	17689	1377	48	3	742	3	ZFP2	5	178359054	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	79	178359054	2556206	110	41315											
ZNF354C	30832	genome.wustl.edu	37	chr5	178505852	178505852	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatagaagaagagcaagagaAgaaacctcttagacaaatga	21	5	10	5	0	1	7	0	1	1	6	1	9	1	7	1	0	2	1	1	0	8	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr5:178505852A>C	ENST00000315475.6	+	5	725	c.419A>C	c.(418-420)aAg>aCg	p.K140T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	140					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)		GAGCAAGAGAAGAAACCTCTT	0.378																																																	0													93	98	96					5																	178505852		2203	4300	6503	SO:0001583	missense	0				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.419A>C	5.37:g.178505852A>C	ENSP00000324064:p.Lys140Thr		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K140T	ENST00000315475.6	37	c.419	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094855	0.36952	.	.	ENSG00000177932	ENST00000315475	T	0.05786	3.39	3.7	1.29	0.21616	.	.	.	.	.	T	0.05547	0.0146	L	0.29908	0.895	0.09310	N	1	P	0.41313	0.745	B	0.43623	0.425	T	0.40459	-0.9562	9	0.17832	T	0.49	-5.1667	6.4472	0.21883	0.7839:0.0:0.2161:0.0	.	140	Q86Y25	Z354C_HUMAN	T	140	ENSP00000324064:K140T	ENSP00000324064:K140T	K	+	2	0	ZNF354C	178438458	0.011000	0.17503	0.056000	0.19401	0.059000	0.15707	1.956000	0.40382	0.156000	0.19299	-0.326000	0.08463	AAG	ZNF354C	-	NULL	ENSG00000177932		0.378	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	-	0	42	0	A			178505852	1	tier1	-	no_errors	ENST00000315475	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.186	C	C	178505852	A	C	178505852	3	2	163	1	0	0	0	0	1	0	0	0	17914	72	3	4	433	4	ZNF354C	5	178505852	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	146798	178505852	2409408	111	41316											
ZNF184	7738	genome.wustl.edu	37	chr6	27419796	27419796	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctgattaaggtttgaGagataactgaaagcctttcc	12	13	10	6	0	0	5	0	4	0	1	1	6	1	5	2	1	3	2	2	1	3	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:27419796G>T	ENST00000211936.6	-	6	1826	c.1542C>A	c.(1540-1542)ctC>ctA	p.L514L	ZNF184_ENST00000377419.1_Silent_p.L514L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	514					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						TAAGGTTTGAGAGATAACTGA	0.403																																																	0													78	77	77					6																	27419796		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1542C>A	6.37:g.27419796G>T			B2R715|O60792|Q8TBA9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L514	ENST00000211936.6	37	c.1542	CCDS4624.1	6																																																																																			ZNF184	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000096654		0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF184	HGNC	protein_coding	OTTHUMT00000040146.1	-	0	59	0	G	NM_007149		27419796	-1	tier1	-	no_errors	ENST00000211936	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.004	T	T	27419796	G	T	27419796	2	4	163	1	0	0	0	0	0	0	0	1	17799	929	33	3		3	ZNF184	6	27419796	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		27419796	143695271	112	41317											
DAXX	1616	genome.wustl.edu	37	chr6	33289534	33289534	+	Missense_Mutation	SNP	T	T	C	0	1	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	attctccagcttgtagcattTcttgccgcccgaactactgc	7	13	7	14	2	2	0	0	0	2	0	3	1	2	0	3	0	6	3	3	0	3	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:33289534T>C	ENST00000374542.5	-	2	373	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.K57E	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	57	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						TTGTAGCATTTCTTGCCGCCC	0.597			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													230	236	234					6																	33289534		2203	4300	6503	SO:0001583	missense	0			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.169A>G	6.37:g.33289534T>C	ENSP00000363668:p.Lys57Glu		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	pfam_Daxx	p.K57E	ENST00000374542.5	37	c.169	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	T	3.657	-0.070228	0.07228	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407	.	.	.	5.12	3.94	0.45596	.	0.343848	0.34223	N	0.004151	T	0.42988	0.1227	L	0.57536	1.79	0.80722	D	1	P;P	0.45827	0.867;0.78	P;B	0.50314	0.637;0.334	T	0.39292	-0.9621	9	0.17369	T	0.5	-7.0235	8.1038	0.30874	0.1793:0.0:0.0:0.8207	.	69;57	B4E1C1;Q9UER7	.;DAXX_HUMAN	E	57	.	ENSP00000266000:K57E	K	-	1	0	DAXX	33397512	1.000000	0.71417	0.999000	0.59377	0.734000	0.41952	0.846000	0.27682	0.954000	0.37851	0.448000	0.29417	AAA	DAXX	-	pfam_Daxx	ENSG00000204209		0.597	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	HGNC	protein_coding	OTTHUMT00000076403.1	-	0	57	0	T			33289534	-1	tier1	-	no_errors	ENST00000266000	ensembl	human	known	74_37	missense	58.14	18	25	SNP	1.000	C	C	33289534	T	C	33289534	3	2	163	1	0	0	0	0	1	0	0	0	4252	1792	62	4	2081	4	DAXX	6	33289534	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	5869738	33289534	137825533	113	41318											
SLC26A8	116369	genome.wustl.edu	37	chr6	35965589	35965589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atagcccataaggtaggaggGggccgaaaactcattcttga	13	8	12	8	1	2	1	1	1	1	0	2	3	2	2	2	4	2	1	2	4	5	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:35965589G>A	ENST00000490799.1	-	5	906	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	SLC26A8_ENST00000355574.2_Missense_Mutation_p.P185S|SLC26A8_ENST00000394602.2_Missense_Mutation_p.P185S	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						AGGTAGGAGGGGGCCGAAAAC	0.468																																																	0													106	95	99					6																	35965589		2203	4300	6503	SO:0001583	missense	0			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.553C>T	6.37:g.35965589G>A	ENSP00000417638:p.Pro185Ser			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.P185S	ENST00000490799.1	37	c.553	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	G	3.243	-0.154884	0.06544	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94650	-3.35;-3.48;-3.35	5.82	3.09	0.35607	.	0.087214	0.50627	D	0.000110	T	0.77831	0.4189	L	0.43923	1.385	0.09310	N	1	B;B	0.32573	0.376;0.208	B;B	0.30572	0.1;0.117	T	0.68911	-0.5284	10	0.07030	T	0.85	.	5.6373	0.17544	0.163:0.0:0.6803:0.1567	.	185;185	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	S	185	ENSP00000417638:P185S;ENSP00000378100:P185S;ENSP00000347778:P185S	ENSP00000347778:P185S	P	-	1	0	SLC26A8	36073567	0.004000	0.15560	0.000000	0.03702	0.004000	0.04260	0.580000	0.23803	0.380000	0.24823	0.650000	0.86243	CCC	SLC26A8	-	NULL	ENSG00000112053		0.468	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	-	0	120	0	G			35965589	-1	tier1	-	no_errors	ENST00000355574	ensembl	human	known	74_37	missense	9.30	78	8	SNP	0.001	A	A	35965589	G	A	35965589	3	1	163	1	0	0	0	0	1	0	0	0	14568	1232	43	3	2423	3	SLC26A8	6	35965589	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2676055	35965589	135149478	114	41319											
MOCS1	4337	genome.wustl.edu	37	chr6	39880681	39880681	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaccttctccagctctggCcactgctgccggacagtgtc	5	9	11	16	1	2	0	0	0	2	0	4	1	2	1	4	3	3	3	4	3	0	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:39880681C>T	ENST00000340692.5	-	7	828	c.825G>A	c.(823-825)tgG>tgA	p.W275*	MOCS1_ENST00000432280.2_Nonsense_Mutation_p.W246*|MOCS1_ENST00000373175.4_Nonsense_Mutation_p.W246*|MOCS1_ENST00000308559.7_Nonsense_Mutation_p.W275*|MOCS1_ENST00000373195.3_Nonsense_Mutation_p.W188*|MOCS1_ENST00000373188.2_Nonsense_Mutation_p.W275*|MOCS1_ENST00000425303.2_Nonsense_Mutation_p.W275*|MOCS1_ENST00000373186.4_Nonsense_Mutation_p.W275*			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	275	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAGCTCTGGCCACTGCTGCC	0.582																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													273	257	263					6																	39880681		2203	4300	6503	SO:0001587	stop_gained	0			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.825G>A	6.37:g.39880681C>T	ENSP00000344794:p.Trp275*		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Nonsense_Mutation	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.W275*	ENST00000340692.5	37	c.825		6	.	.	.	.	.	.	.	.	.	.	C	34	5.409656	0.96072	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000341481;ENST00000340692;ENST00000425303;ENST00000432280	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.1588	17.9918	0.89171	0.0:1.0:0.0:0.0	.	.	.	.	X	275;275;246;275;188;27;275;275;246	.	.	W	-	3	0	MOCS1	39988659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.452000	0.80683	2.346000	0.79739	0.655000	0.94253	TGG	MOCS1	-	pfam_Mob_synth_C,tigrfam_MoaA	ENSG00000124615		0.582	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2		0	31	0	C	NM_005943		39880681	-1			no_errors	ENST00000340692	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	1.000	T	T	39880681	C	T	39880681	4	4	163	1	0	0	0	0	0	1	0	0	9728	740	26	3	348	3	MOCS1	6	39880681	Nonsense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	3915092	39880681	131234386	115	41320											
SLC22A7	10864	genome.wustl.edu	37	chr6	43270095	43270095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggacgccgcctcacgcaaGctgggacactgctgggcacg	8	4	14	15	4	1	0	1	0	0	0	1	2	1	2	2	3	2	4	2	3	1	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:43270095G>T	ENST00000372585.5	+	8	1314	c.1219G>T	c.(1219-1221)Gct>Tct	p.A407S	SLC22A7_ENST00000372574.3_Missense_Mutation_p.A405S|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A405S	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	407					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)	CCTCACGCAAGCTGGGACACT	0.642																																																	0													54	44	48					6																	43270095		2203	4300	6503	SO:0001583	missense	0			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.1219G>T	6.37:g.43270095G>T	ENSP00000361666:p.Ala407Ser		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A407S	ENST00000372585.5	37	c.1219	CCDS4893.2	6	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333427	0.41297	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.74421	0.33;0.33;0.33;-0.84	5.27	2.48	0.30137	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.170686	0.50627	D	0.000107	T	0.57504	0.2058	L	0.55103	1.725	0.19945	N	0.99994	B;B;B	0.34349	0.45;0.395;0.395	P;B;B	0.45712	0.491;0.358;0.358	T	0.55023	-0.8205	10	0.40728	T	0.16	.	5.6895	0.17821	0.1666:0.0:0.6776:0.1559	.	407;405;405	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	S	405;407;405;100	ENSP00000361670:A405S;ENSP00000361666:A407S;ENSP00000361655:A405S;ENSP00000393836:A100S	ENSP00000361655:A405S	A	+	1	0	SLC22A7	43378073	0.999000	0.42202	0.006000	0.13384	0.636000	0.38137	2.153000	0.42282	0.217000	0.20800	-0.379000	0.06801	GCT	SLC22A7	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000137204		0.642	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	SLC22A7	HGNC	protein_coding	OTTHUMT00000040588.1	-	0	40	0	G			43270095	1	tier1	-	no_errors	ENST00000372585	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.123	T	T	43270095	G	T	43270095	3	4	163	1	0	0	0	0	1	0	0	0	14504	971	34	3	1245	3	SLC22A7	6	43270095	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	3389414	43270095	127844972	116	41321											
SUPT3H	8464	genome.wustl.edu	37	chr6	44922333	44922333	+	Missense_Mutation	SNP	A	A	G	1	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	caaccagtctcgaaatttggAagcttttttggctggccatt	9	14	9	9	1	1	0	0	0	1	0	2	2	1	1	2	3	2	2	2	3	3	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:44922333A>G	ENST00000371459.1	-	8	757	c.592T>C	c.(592-594)Tcc>Ccc	p.S198P	SUPT3H_ENST00000371461.2_Missense_Mutation_p.S209P|SUPT3H_ENST00000371460.1_Missense_Mutation_p.S209P|SUPT3H_ENST00000306867.5_Missense_Mutation_p.S198P|SUPT3H_ENST00000371458.1_5'UTR	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	280					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						CGAAATTTGGAAGCTTTTTTG	0.328																																																	0													109	107	108					6																	44922333		2203	4300	6503	SO:0001583	missense	0			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.592T>C	6.37:g.44922333A>G	ENSP00000360514:p.Ser198Pro		A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	pfam_TFIID-18,superfamily_Histone-fold	p.S209P	ENST00000371459.1	37	c.625	CCDS34465.1	6	.	.	.	.	.	.	.	.	.	.	A	20.3	3.958864	0.74016	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.46819	0.86;0.88;0.88;0.86	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.981;0.986	T	0.65928	-0.6049	10	0.62326	D	0.03	.	15.3438	0.74317	1.0:0.0:0.0:0.0	.	209;280	O75486-3;O75486	.;SUPT3_HUMAN	P	209;198;198;209	ENSP00000360515:S209P;ENSP00000360514:S198P;ENSP00000306718:S198P;ENSP00000360516:S209P	ENSP00000306718:S198P	S	-	1	0	SUPT3H	45030311	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.939000	0.92951	2.023000	0.59567	0.454000	0.30748	TCC	SUPT3H	-	NULL	ENSG00000196284		0.328	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT3H	HGNC	protein_coding	OTTHUMT00000106911.2	-	0	99	0	A	NM_181356		44922333	-1	tier1	-	no_errors	ENST00000371460	ensembl	human	known	74_37	missense	8.60	85	8	SNP	1.000	G	G	44922333	A	G	44922333	3	3	163	1	0	0	0	0	1	0	0	0	15444	246	9	4	377	4	SUPT3H	6	44922333	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	1652238	44922333	126192734	117	41322											
EYS	346007	genome.wustl.edu	37	chr6	64430573	64430573	+	Frame_Shift_Del	DEL	A	A	-																															tcaatgttttttggttcctgAaaaaatacaacatctttaat																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:64430573delA	ENST00000370621.3	-	44	9943	c.9417delT	c.(9415-9417)tttfs	p.F3139fs	EYS_ENST00000370616.2_Frame_Shift_Del_p.F3139fs|EYS_ENST00000503581.1_Frame_Shift_Del_p.F3118fs			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	3139	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGGTTCCTGAAAAAATACAA	0.284																																																	0													75	68	70					6																	64430573		692	1586	2278	SO:0001589	frameshift_variant	0				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.9417delT	6.37:g.64430573delA	ENSP00000359655:p.Phe3139fs		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q3140fs	ENST00000370621.3	37	c.9417		6																																																																																			EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000188107		0.284	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3		0	83	0	A	XM_294050		64430573	-1	tier1		no_errors	ENST00000370616	ensembl	human	known	74_37	frame_shift_del	22.73	34	10	DEL	1.000	-	-	64430573	A	-	64430573	7	5	163	1	0	1	0	1	0	0	0	0	5348	243	9	0	84	0	EYS	6	64430573	Frame_Shift_Del	DEL	A	TCGA-VR-A8EQ-01A-11D-A36J-09	19508240	64430573	106684494	118	41323											
COL12A1	1303	genome.wustl.edu	37	chr6	75834919	75834919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattcacatcgtaggtggtGctgggattgagattgtgtaa	10	13	13	5	1	1	1	1	1	0	1	2	3	1	2	0	3	1	3	0	3	2	5	rs555058454		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:75834919G>A	ENST00000322507.8	-	40	6840	c.6531C>T	c.(6529-6531)agC>agT	p.S2177S	COL12A1_ENST00000483888.2_Silent_p.S2177S|COL12A1_ENST00000345356.6_Silent_p.S1013S|COL12A1_ENST00000416123.2_Silent_p.S2177S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2177	Fibronectin type-III 17. {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						CGTAGGTGGTGCTGGGATTGA	0.403													G|||	1	0.000199681	0	0	5008	,	,		16843	0		0	False		,,,				2504	0.001																0													129	129	129					6																	75834919		1931	4140	6071	SO:0001819	synonymous_variant	0			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.6531C>T	6.37:g.75834919G>A			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S2177	ENST00000322507.8	37	c.6531	CCDS43482.1	6																																																																																			COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.403	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	70	0	G	NM_004370		75834919	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.952	A	A	75834919	G	A	75834919	2	1	163	1	0	0	0	0	0	0	0	1	3676	1310	46	3		3	COL12A1	6	75834919	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	11404346	75834919	95280148	119	41324											
SENP6	26054	genome.wustl.edu	37	chr6	76386937	76386937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctatgaagagagcatcaaaGgaagttgtgggcaaaaggaa	17	6	13	5	0	1	2	1	1	0	1	1	5	1	4	1	3	1	3	1	3	7	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:76386937G>A	ENST00000447266.2	+	14	2291	c.1813G>A	c.(1813-1815)Gga>Aga	p.G605R	SENP6_ENST00000370010.2_Missense_Mutation_p.G598R|SENP6_ENST00000327284.8_Missense_Mutation_p.G598R|SENP6_ENST00000541192.1_Missense_Mutation_p.G201R|SENP6_ENST00000370014.3_Missense_Mutation_p.G605R	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	605					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)				GAGCATCAAAGGAAGTTGTGG	0.294																																																	0													39	37	37					6																	76386937		1793	4062	5855	SO:0001583	missense	0				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.1813G>A	6.37:g.76386937G>A	ENSP00000402527:p.Gly605Arg		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.G605R	ENST00000447266.2	37	c.1813	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991454	0.35131	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.29917	2.76;2.76;1.55;2.76;1.55;1.58	5.26	5.26	0.73747	.	0.398519	0.29466	N	0.012068	T	0.36468	0.0968	L	0.51422	1.61	0.34176	D	0.670392	P;B;D	0.62365	0.459;0.177;0.991	B;B;D	0.63381	0.213;0.072;0.914	T	0.20739	-1.0266	10	0.51188	T	0.08	-18.8753	14.4845	0.67606	0.0:0.1468:0.8532:0.0	.	598;605;598	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	R	598;605;598;605;495;201	ENSP00000359027:G598R;ENSP00000359031:G605R;ENSP00000321820:G598R;ENSP00000402527:G605R;ENSP00000391426:G495R;ENSP00000441715:G201R	ENSP00000321820:G598R	G	+	1	0	SENP6	76443657	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	6.247000	0.72411	2.475000	0.83589	0.460000	0.39030	GGA	SENP6	-	NULL	ENSG00000112701		0.294	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	-	0	225	0	G	NM_015571		76386937	1	tier1	-	no_errors	ENST00000370014	ensembl	human	known	74_37	missense	41.98	76	55	SNP	1.000	A	A	76386937	G	A	76386937	3	1	163	1	0	0	0	0	1	0	0	0	14095	1001	35	3	1867	3	SENP6	6	76386937	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	552018	76386937	94728130	120	41325											
TTK	7272	genome.wustl.edu	37	chr6	80718160	80718160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccagagcaaactgcaaGaaatttgcttttgttcatat	13	13	8	7	0	1	2	1	0	0	2	1	2	1	2	1	1	4	4	1	1	4	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:80718160G>T	ENST00000369798.2	+	4	531	c.420G>T	c.(418-420)aaG>aaT	p.K140N	TTK_ENST00000509894.1_Missense_Mutation_p.K140N|TTK_ENST00000230510.3_Missense_Mutation_p.K140N	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	140					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.K124N(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)		CAAACTGCAAGAAATTTGCTT	0.299																																																	1	Substitution - Missense(1)	large_intestine(1)											79	72	74					6																	80718160		2203	4299	6502	SO:0001583	missense	0				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.420G>T	6.37:g.80718160G>T	ENSP00000358813:p.Lys140Asn		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K140N	ENST00000369798.2	37	c.420	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471785	0.84533	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000511260;ENST00000504040	T;T;T;D;T	0.90197	1.36;1.36;1.36;-2.63;1.36	6.01	6.01	0.97437	Tetratricopeptide-like helical (1);	0.096695	0.64402	D	0.000001	D	0.92835	0.7721	M	0.63843	1.955	0.46823	D	0.999215	D;D	0.89917	1.0;0.999	D;D	0.69142	0.962;0.947	D	0.93166	0.6562	10	0.87932	D	0	.	12.7696	0.57412	0.074:0.0:0.926:0.0	.	140;140	P33981;A8K8U5	TTK_HUMAN;.	N	140	ENSP00000422936:K140N;ENSP00000230510:K140N;ENSP00000358813:K140N;ENSP00000421636:K140N;ENSP00000427483:K140N	ENSP00000230510:K140N	K	+	3	2	TTK	80774879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.759000	0.55227	2.861000	0.98227	0.650000	0.86243	AAG	TTK	-	NULL	ENSG00000112742		0.299	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2		0	42	0	G			80718160	1			no_errors	ENST00000369798	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	80718160	G	T	80718160	3	4	163	1	0	0	0	0	1	0	0	0	16769	933	33	3	430	3	TTK	6	80718160	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	4331223	80718160	90396907	121	41326											
SNX14	57231	genome.wustl.edu	37	chr6	86238024	86238024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctttgactttaagaattCataatttttggggccaatga	11	16	7	7	0	2	3	1	2	1	1	2	3	2	3	2	2	0	0	2	2	4	7			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:86238024C>T	ENST00000314673.3	-	20	2127	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	SNX14_ENST00000346348.3_Missense_Mutation_p.E598K|SNX14_ENST00000505648.1_Missense_Mutation_p.E599K|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.E642K|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	651	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTTAAGAATTCATAATTTTTG	0.333																																																	0													154	175	168					6																	86238024		2203	4298	6501	SO:0001583	missense	0			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.1951G>A	6.37:g.86238024C>T	ENSP00000313121:p.Glu651Lys		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.E651K	ENST00000314673.3	37	c.1951	CCDS5004.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.642049	0.96704	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.6	5.6	0.85130	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	L	0.45285	1.41	0.80722	D	1	D;D;D;P	0.69078	0.99;0.997;0.96;0.95	P;P;P;P	0.61275	0.886;0.886;0.856;0.828	T	0.01256	-1.1404	10	0.27785	T	0.31	-16.0241	19.6136	0.95619	0.0:1.0:0.0:0.0	.	642;598;651;599	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	K	598;108;651;599;642;569;16	ENSP00000257769:E598K;ENSP00000313121:E651K;ENSP00000427380:E599K;ENSP00000358641:E642K;ENSP00000425630:E569K;ENSP00000391981:E16K	ENSP00000313121:E651K	E	-	1	0	SNX14	86294743	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.280000	0.78610	2.641000	0.89580	0.585000	0.79938	GAA	SNX14	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000135317		0.333	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	-	0	55	0	C	NM_153816		86238024	-1	tier1	-	no_errors	ENST00000314673	ensembl	human	known	74_37	missense	23.81	32	10	SNP	1.000	T	T	86238024	C	T	86238024	3	4	163	1	0	0	0	0	1	0	0	0	14930	835	29	3	929	3	SNX14	6	86238024	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	5519864	86238024	84877043	122	41327											
FAM26E	254228	genome.wustl.edu	37	chr6	116833249	116833249	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctatgaatgtgccatgagCgggacgagaagttcaggact	11	10	13	7	2	2	3	1	2	1	1	2	6	2	5	1	2	2	1	1	2	3	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:116833249C>T	ENST00000368599.3	+	1	441	c.390C>T	c.(388-390)agC>agT	p.S130S	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	130					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		GTGCCATGAGCGGGACGAGAA	0.498																																																	0													58	55	56					6																	116833249		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 188"	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.390C>T	6.37:g.116833249C>T			B2RDJ9|B3KSR3	Silent	SNP	NULL	p.S130	ENST00000368599.3	37	c.390	CCDS5108.1	6																																																																																			FAM26E	-	NULL	ENSG00000178033		0.498	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26E	HGNC	protein_coding	OTTHUMT00000041956.1	-	0	67	0	C	NM_153711		116833249	1	tier1	-	no_errors	ENST00000368599	ensembl	human	known	74_37	silent	17.14	29	6	SNP	0.847	T	T	116833249	C	T	116833249	2	4	163	1	0	0	0	0	0	0	0	1	5572	767	27	1		1	FAM26E	6	116833249	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	30595225	116833249	54281818	123	41328											
TRMT11	60487	genome.wustl.edu	37	chr6	126319386	126319386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggttccatttctacattcGgactctacatataaaataaa	15	14	4	8	1	2	0	0	0	2	0	4	1	3	1	1	2	2	1	1	2	8	9			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:126319386G>A	ENST00000334379.5	+	5	433	c.312G>A	c.(310-312)tcG>tcA	p.S104S	TRMT11_ENST00000368332.3_Silent_p.S104S|TRMT11_ENST00000450358.1_Silent_p.S104S	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	104					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TTCTACATTCGGACTCTACAT	0.279																																																	0													43	44	44					6																	126319386		2187	4293	6480	SO:0001819	synonymous_variant	0			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.312G>A	6.37:g.126319386G>A			E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	NULL	p.R77Q	ENST00000334379.5	37	c.230	CCDS35496.1	6																																																																																			TRMT11	-	NULL	ENSG00000066651		0.279	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	HGNC	protein_coding		-	0	54	0	G	NM_021820		126319386	1	tier1	-	no_errors	ENST00000461129	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.932	A	A	126319386	G	A	126319386	2	1	163	1	0	0	0	0	0	0	0	1	16610	1103	39	1		1	TRMT11	6	126319386	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	9486137	126319386	44795681	124	41329											
VNN1	8876	genome.wustl.edu	37	chr6	133032938	133032938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtccctgttgaagttccagCcataaatagcatcttctgga	11	12	8	10	0	2	1	0	1	2	0	4	2	4	2	3	1	2	3	3	1	4	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:133032938C>A	ENST00000367928.4	-	2	264	c.251G>T	c.(250-252)gGc>gTc	p.G84V		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	84	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GAAGTTCCAGCCATAAATAGC	0.458																																																	0													117	118	117					6																	133032938		2203	4300	6503	SO:0001583	missense	0			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.251G>T	6.37:g.133032938C>A	ENSP00000356905:p.Gly84Val		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.G84V	ENST00000367928.4	37	c.251	CCDS5159.1	6	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639580	0.67244	.	.	ENSG00000112299	ENST00000367928	D	0.88818	-2.43	5.6	5.6	0.85130	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95547	0.8617	10	0.87932	D	0	-10.9464	19.1984	0.93699	0.0:1.0:0.0:0.0	.	84	O95497	VNN1_HUMAN	V	84	ENSP00000356905:G84V	ENSP00000356905:G84V	G	-	2	0	VNN1	133074631	0.999000	0.42202	0.446000	0.26920	0.576000	0.36127	5.426000	0.66476	2.643000	0.89663	0.555000	0.69702	GGC	VNN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000112299		0.458	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VNN1	HGNC	protein_coding	OTTHUMT00000042263.1		0	107	0	C			133032938	-1			no_errors	ENST00000367928	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.986	A	A	133032938	C	A	133032938	3	1	163	1	0	0	0	0	1	0	0	0	17231	739	26	3	1314	3	VNN1	6	133032938	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	6713552	133032938	38082129	125	41330											
EYA4	2070	genome.wustl.edu	37	chr6	133595940	133595940	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaagactcccaggatttaAatgaacaatcagtaagtctt	15	11	8	7	0	2	2	1	1	1	1	3	4	3	4	1	2	1	1	1	2	6	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:133595940A>C	ENST00000367895.5	+	2	486	c.22A>C	c.(22-24)Aat>Cat	p.N8H	EYA4_ENST00000355286.6_Missense_Mutation_p.N8H|EYA4_ENST00000525849.1_Missense_Mutation_p.N8H|EYA4_ENST00000531901.1_Missense_Mutation_p.N8H|EYA4_ENST00000430974.2_Missense_Mutation_p.N8H|EYA4_ENST00000452339.2_Missense_Mutation_p.N8H|EYA4_ENST00000355167.3_Missense_Mutation_p.N8H|EYA4_ENST00000431403.2_Missense_Mutation_p.N8H	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	8					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)		CCAGGATTTAAATGAACAATC	0.353																																					Melanoma(57;398 1237 3528 4702 7415)												0													97	101	100					6																	133595940		2203	4300	6503	SO:0001583	missense	0			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.22A>C	6.37:g.133595940A>C	ENSP00000356870:p.Asn8His		B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.N8H	ENST00000367895.5	37	c.22	CCDS5165.1	6	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787282	0.70337	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.90324	-2.61;-2.56;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	5.74	5.74	0.90152	.	0.251736	0.33670	N	0.004669	D	0.87649	0.6230	N	0.19112	0.55	0.32768	N	0.504164	B;D;D;D;B;B	0.60575	0.32;0.988;0.966;0.988;0.32;0.115	B;D;D;D;B;B	0.69654	0.124;0.965;0.965;0.965;0.124;0.176	D	0.88680	0.3201	10	0.49607	T	0.09	-0.0858	12.4274	0.55556	1.0:0.0:0.0:0.0	.	8;8;8;8;8;8	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	H	8	ENSP00000395916:N8H;ENSP00000388670:N8H;ENSP00000356870:N8H;ENSP00000347294:N8H;ENSP00000347434:N8H;ENSP00000432770:N8H;ENSP00000433219:N8H;ENSP00000404558:N8H	ENSP00000347294:N8H	N	+	1	0	EYA4	133637633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.186000	0.65082	2.187000	0.69744	0.528000	0.53228	AAT	EYA4	-	NULL	ENSG00000112319		0.353	EYA4-001	KNOWN	basic|CCDS	protein_coding	EYA4	HGNC	protein_coding	OTTHUMT00000042282.2	-	0	110	0	A	NM_004100		133595940	1	tier1	-	no_errors	ENST00000355167	ensembl	human	known	74_37	missense	16.92	54	11	SNP	1.000	C	C	133595940	A	C	133595940	3	2	163	1	0	0	0	0	1	0	0	0	5347	14	1	4	24	4	EYA4	6	133595940	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	563002	133595940	37519127	126	41331											
KIAA1244	57221	genome.wustl.edu	37	chr6	138607928	138607928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactggtcgaatggcggggaGctccaaagggctggccttca	8	7	16	10	2	1	0	1	0	0	0	3	3	2	1	2	6	1	2	2	6	2	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:138607928G>T	ENST00000251691.4	+	16	2826	c.2660G>T	c.(2659-2661)aGc>aTc	p.S887I		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)		ATGGCGGGGAGCTCCAAAGGG	0.557																																																	0													99	104	103					6																	138607928		2203	4300	6503	SO:0001583	missense	0			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.2660G>T	6.37:g.138607928G>T	ENSP00000251691:p.Ser887Ile			Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.S887I	ENST00000251691.4	37	c.2660	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971058	0.92919	.	.	ENSG00000112379	ENST00000251691	T	0.20069	2.1	5.25	5.25	0.73442	.	0.075717	0.85682	D	0.000000	T	0.36276	0.0961	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.10428	-1.0630	10	0.87932	D	0	-27.5742	19.037	0.92983	0.0:0.0:1.0:0.0	.	887	Q5TH69	BIG3_HUMAN	I	887	ENSP00000251691:S887I	ENSP00000251691:S887I	S	+	2	0	KIAA1244	138649621	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.017000	0.93651	2.738000	0.93877	0.655000	0.94253	AGC	KIAA1244	-	superfamily_ARM-type_fold	ENSG00000112379		0.557	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4		0	70	0	G	NM_020340		138607928	1			no_errors	ENST00000251691	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	138607928	G	T	138607928	3	4	163	1	0	0	0	0	1	0	0	0	8244	971	34	3	2722	3	KIAA1244	6	138607928	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	5011988	138607928	32507139	127	41332											
PDE10A	10846	genome.wustl.edu	37	chr6	165844941	165844941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtattgctactgaagcccagGcaagatttgctgttgcaacc	10	11	10	10	0	0	2	0	1	0	1	0	2	0	2	2	1	6	6	2	1	5	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr6:165844941G>A	ENST00000366882.1	-	9	837	c.683C>T	c.(682-684)gCc>gTc	p.A228V	PDE10A_ENST00000354448.4_Missense_Mutation_p.A228V|PDE10A_ENST00000539869.2_Missense_Mutation_p.A238V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	228	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TGAAGCCCAGGCAAGATTTGC	0.358																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													111	115	113					6																	165844941		2203	4300	6503	SO:0001583	missense	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.683C>T	6.37:g.165844941G>A	ENSP00000355847:p.Ala228Val		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.A238V	ENST00000366882.1	37	c.713		6	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237602	0.39598	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.69306	-0.39;-0.39	5.5	5.5	0.81552	GAF (2);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	N	0.17474	0.49	0.80722	D	1	P;B	0.39157	0.662;0.005	P;B	0.47891	0.56;0.009	T	0.50136	-0.8863	10	0.16420	T	0.52	.	19.3976	0.94612	0.0:0.0:1.0:0.0	.	238;228	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	228;256;238;228;227	ENSP00000355847:A228V;ENSP00000346435:A228V	ENSP00000341187:A238V	A	-	2	0	PDE10A	165764931	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.475000	0.97721	2.575000	0.86900	0.650000	0.86243	GCC	PDE10A	-	pfam_GAF,smart_GAF	ENSG00000112541		0.358	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	-	0	120	0	G			165844941	-1	tier1	-	no_errors	ENST00000539869	ensembl	human	known	74_37	missense	16.67	45	9	SNP	1.000	A	A	165844941	G	A	165844941	3	1	163	1	0	0	0	0	1	0	0	0	11669	1203	42	3	1716	3	PDE10A	6	165844941	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	27237013	165844941	5270126	128	41333											
CYTH3	9265	genome.wustl.edu	37	chr7	6210872	6210872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggttgcacaggcagtagcGagaagcgaaagcctccatca	12	5	14	10	2	1	1	1	0	0	1	2	3	2	1	2	3	4	4	2	3	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:6210872G>A	ENST00000350796.3	-	7	659	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	CYTH3_ENST00000396741.2_Missense_Mutation_p.R90C|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	175	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						AGGCAGTAGCGAGAAGCGAAA	0.622																																																	0													108	110	110					7																	6210872		2203	4300	6503	SO:0001583	missense	0			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.523C>T	7.37:g.6210872G>A	ENSP00000297044:p.Arg175Cys		A4D2N8	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.R175C	ENST00000350796.3	37	c.523	CCDS5346.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.242021	0.95272	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.58797	0.31;0.31	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.82811	0.5118	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.68353	0.613;0.957	D	0.87986	0.2746	10	0.87932	D	0	.	18.8342	0.92155	0.0:0.0:1.0:0.0	.	90;175	B7Z2V9;O43739-2	.;.	C	175;90	ENSP00000297044:R175C;ENSP00000379967:R90C	ENSP00000297044:R175C	R	-	1	0	CYTH3	6177397	1.000000	0.71417	0.907000	0.35723	0.802000	0.45316	4.580000	0.60942	2.459000	0.83118	0.655000	0.94253	CGC	CYTH3	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000008256		0.622	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	-	0	87	0	G	NM_004227		6210872	-1	tier1	-	no_errors	ENST00000350796	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	A	A	6210872	G	A	6210872	3	1	163	1	0	0	0	0	1	0	0	0	4214	1058	37	1	704	1	CYTH3	7	6210872	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		6210872	152927791	129	41334											
DGKB	1607	genome.wustl.edu	37	chr7	14613990	14613990	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttcatcagattctcaccTtcgtaacctagtgggaaaaa	13	13	6	9	1	3	1	3	0	1	1	5	2	3	2	2	1	1	1	2	1	4	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:14613990T>A	ENST00000403951.2	-	20	2039	c.1620A>T	c.(1618-1620)gaA>gaT	p.E540D	DGKB_ENST00000258767.5_Missense_Mutation_p.E540D|DGKB_ENST00000407950.1_Missense_Mutation_p.E532D|DGKB_ENST00000406247.3_Missense_Mutation_p.E540D|DGKB_ENST00000444700.2_Missense_Mutation_p.E521D|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.E539D|DGKB_ENST00000399322.3_Missense_Mutation_p.E540D			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	540	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						GATTCTCACCTTCGTAACCTA	0.323																																																	0													140	123	128					7																	14613990		1819	4087	5906	SO:0001583	missense	0			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.1620A>T	7.37:g.14613990T>A	ENSP00000385780:p.Glu540Asp		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E540D	ENST00000403951.2	37	c.1620	CCDS47547.1	7	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475178	0.43942	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.43	5.43	0.79202	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	N	0.12920	0.275	0.52501	D	0.999959	B;B;B;B	0.27316	0.175;0.075;0.075;0.058	B;B;B;B	0.33690	0.168;0.101;0.133;0.06	T	0.10154	-1.0642	10	0.24483	T	0.36	.	15.4862	0.75569	0.0:0.0:0.0:1.0	.	539;521;540;540	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	D	540;540;540;539;532;521;540	ENSP00000385780:E540D;ENSP00000382260:E540D;ENSP00000258767:E540D;ENSP00000384909:E539D;ENSP00000385031:E532D;ENSP00000388451:E521D;ENSP00000386066:E540D	ENSP00000258767:E540D	E	-	3	2	DGKB	14580515	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.265000	0.51561	2.063000	0.61619	0.533000	0.62120	GAA	DGKB	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000136267		0.323	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	-	0	61	0	T	NM_004080		14613990	-1	tier1	-	no_errors	ENST00000258767	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	A	A	14613990	T	A	14613990	3	1	163	1	0	0	0	0	1	0	0	0	4480	1606	56	5	837	5	DGKB	7	14613990	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	8403118	14613990	144524673	130	41335											
BLVRA	644	genome.wustl.edu	37	chr7	43832405	43832405	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgtgggagctggctgagCagaaaggtaatgtatcttac	12	10	13	6	0	1	2	0	1	1	1	1	3	1	3	0	3	4	5	0	3	5	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:43832405C>T	ENST00000402924.1	+	6	509	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	BLVRA_ENST00000265523.4_Nonsense_Mutation_p.Q116*	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	116					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GCTGGCTGAGCAGAAAGGTAA	0.463																																																	0													70	64	66					7																	43832405		2203	4300	6503	SO:0001587	stop_gained	0			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.346C>T	7.37:g.43832405C>T	ENSP00000385757:p.Gln116*		A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Nonsense_Mutation	SNP	pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A	p.Q116*	ENST00000402924.1	37	c.346	CCDS5472.1	7	.	.	.	.	.	.	.	.	.	.	C	9.107	1.005602	0.19199	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	.	.	.	4.16	0.803	0.18691	.	0.302345	0.36200	N	0.002728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	8.7228	0.34452	0.153:0.5476:0.2995:0.0	.	.	.	.	X	116	.	ENSP00000265523:Q116X	Q	+	1	0	BLVRA	43798930	1.000000	0.71417	0.974000	0.42286	0.033000	0.12548	0.878000	0.28126	0.266000	0.21894	0.484000	0.47621	CAG	BLVRA	-	pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A	ENSG00000106605		0.463	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BLVRA	HGNC	protein_coding	OTTHUMT00000339006.1	-	0	26	0	C	NM_000712		43832405	1	tier1	-	no_errors	ENST00000265523	ensembl	human	known	74_37	nonsense	24.14	22	7	SNP	0.998	T	T	43832405	C	T	43832405	4	4	163	1	0	0	0	0	0	1	0	0	1453	711	25	3	360	3	BLVRA	7	43832405	Nonsense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	29218415	43832405	115306258	131	41336											
ZPBP	11055	genome.wustl.edu	37	chr7	50121489	50121489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgatggagcatgacatacGctttcactgaaaatacaata	15	12	7	7	1	1	3	1	3	0	0	1	4	1	4	0	1	3	2	0	1	6	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:50121489G>T	ENST00000046087.2	-	3	284	c.215C>A	c.(214-216)gCg>gAg	p.A72E	ZPBP_ENST00000419417.1_Missense_Mutation_p.A72E	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	72					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.A72V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CATGACATACGCTTTCACTGA	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											109	101	103					7																	50121489		2202	4299	6501	SO:0001583	missense	0			D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.215C>A	7.37:g.50121489G>T	ENSP00000046087:p.Ala72Glu		A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	pfam_Sp38-bd,pfscan_Ig-like_dom	p.A72E	ENST00000046087.2	37	c.215	CCDS5509.1	7	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240697	0.39598	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	T;T;T	0.52295	0.67;0.67;1.49	5.1	3.94	0.45596	Immunoglobulin-like (1);	0.285266	0.24334	N	0.039436	T	0.24198	0.0586	N	0.08118	0	0.19575	N	0.999965	B;B	0.24368	0.102;0.102	B;B	0.21151	0.033;0.033	T	0.16188	-1.0411	9	.	.	.	-9.817	8.829	0.35072	0.9121:0.0:0.0879:0.0	.	72;72	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	E	72;72;33	ENSP00000046087:A72E;ENSP00000402071:A72E;ENSP00000390054:A33E	.	A	-	2	0	ZPBP	50092035	0.981000	0.34729	0.929000	0.37066	0.793000	0.44817	3.398000	0.52579	0.780000	0.33566	-0.606000	0.04082	GCG	ZPBP	-	pfscan_Ig-like_dom	ENSG00000042813		0.353	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP	HGNC	protein_coding	OTTHUMT00000251374.1		0	45	0	G	NM_007009		50121489	-1			no_errors	ENST00000046087	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.897	T	T	50121489	G	T	50121489	3	4	163	1	0	0	0	0	1	0	0	0	18267	1087	38	2	864	2	ZPBP	7	50121489	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	6289084	50121489	109017174	132	41337											
ZNF716	441234	genome.wustl.edu	37	chr7	57529025	57529025	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctcaacacttactaactaCaagagaattcatactggaga	16	9	6	10	1	2	2	2	0	0	2	2	4	2	2	0	1	5	1	0	1	7	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:57529025C>T	ENST00000420713.1	+	4	970	c.858C>T	c.(856-858)taC>taT	p.Y286Y		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	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(1)|kidney(1)|lung(20)|ovary(2)	24						TTACTAACTACAAGAGAATTC	0.408																																																	0													41	41	41					7																	57529025		692	1591	2283	SO:0001819	synonymous_variant	0			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.858C>T	7.37:g.57529025C>T				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y286	ENST00000420713.1	37	c.858	CCDS55112.1	7																																																																																			ZNF716	-	pfscan_Znf_C2H2	ENSG00000182111		0.408	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	HGNC	protein_coding	OTTHUMT00000345309.1	-	0	71	0	C	NM_001159279		57529025	1	tier1	-	no_errors	ENST00000420713	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.407	T	T	57529025	C	T	57529025	2	4	163	1	0	0	0	0	0	0	0	1	18167	489	17	3		3	ZNF716	7	57529025	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	7407536	57529025	101609638	133	41338											
TRIM50	135892	genome.wustl.edu	37	chr7	72734220	72734220	+	Missense_Mutation	SNP	A	A	G	1	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	ctgctcctgcttcagctcagAgatgagggctgcgagctcct	6	10	12	13	1	2	2	2	1	0	1	4	4	4	2	2	1	5	5	2	1	0	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:72734220A>G	ENST00000333149.2	-	3	621	c.421T>C	c.(421-423)Tct>Cct	p.S141P	TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000453152.1_Missense_Mutation_p.S141P	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	141						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						TTCAGCTCAGAGATGAGGGCT	0.587																																																	0													292	243	260					7																	72734220		2203	4300	6503	SO:0001583	missense	0			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.421T>C	7.37:g.72734220A>G	ENSP00000327994:p.Ser141Pro		Q86XT3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S141P	ENST00000333149.2	37	c.421	CCDS34654.1	7	.	.	.	.	.	.	.	.	.	.	a	14.58	2.579289	0.46006	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.58060	0.36;0.36	4.14	1.74	0.24563	.	0.211460	0.31257	N	0.007961	T	0.42291	0.1196	N	0.24115	0.695	0.21290	N	0.99973	D;D	0.65815	0.995;0.991	P;P	0.55391	0.775;0.601	T	0.25363	-1.0134	10	0.52906	T	0.07	.	0.9227	0.01318	0.4334:0.1669:0.0987:0.301	.	141;141	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	P	141	ENSP00000327994:S141P;ENSP00000413875:S141P	ENSP00000327994:S141P	S	-	1	0	TRIM50	72372156	1.000000	0.71417	0.989000	0.46669	0.957000	0.61999	1.690000	0.37711	0.587000	0.29643	-0.508000	0.04489	TCT	TRIM50	-	NULL	ENSG00000146755		0.587	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM50	HGNC	protein_coding	OTTHUMT00000345925.1	-	0	152	0	A	NM_178125		72734220	-1	tier1	-	no_errors	ENST00000333149	ensembl	human	known	74_37	missense	25.00	63	21	SNP	0.931	G	G	72734220	A	G	72734220	3	3	163	1	0	0	0	0	1	0	0	0	16574	304	11	4	1062	4	TRIM50	7	72734220	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	15205195	72734220	86404443	134	41339											
GRM3	2913	genome.wustl.edu	37	chr7	86415679	86415679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattactttgccaggaccGtgccccccgacttctaccag	8	10	8	15	2	1	1	0	1	1	0	1	3	1	2	6	1	4	0	6	1	2	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:86415679G>A	ENST00000361669.2	+	3	1670	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	GRM3_ENST00000394720.2_Missense_Mutation_p.V189M|GRM3_ENST00000536043.1_Missense_Mutation_p.V63M|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.V191M|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					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)					TGCCAGGACCGTGCCCCCCGA	0.567																																					GBM(52;969 1098 3139 52280)												0													119	111	114					7																	86415679		2203	4300	6503	SO:0001583	missense	0				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.571G>A	7.37:g.86415679G>A	ENSP00000355316:p.Val191Met		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.V191M	ENST00000361669.2	37	c.571	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647636	0.87958	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	M	0.89968	3.075	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	0.94697	0.7879	10	0.87932	D	0	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	63;191;191	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	M	191;63;63;191;189	ENSP00000355316:V191M;ENSP00000405427:V63M;ENSP00000441407:V63M;ENSP00000398767:V191M;ENSP00000378209:V189M	ENSP00000355316:V191M	V	+	1	0	GRM3	86253615	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.756000	0.98918	2.711000	0.92665	0.655000	0.94253	GTG	GRM3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000198822		0.567	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	-	0	62	0	G			86415679	1	tier1	-	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	86415679	G	A	86415679	3	1	163	1	0	0	0	0	1	0	0	0	6825	1145	40	1	577	1	GRM3	7	86415679	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	13681459	86415679	72722984	135	41340											
ANKIB1	54467	genome.wustl.edu	37	chr7	91974350	91974350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgtggatatgccctgtgGacatgacttttgtagaggat	8	13	12	8	0	0	2	0	1	0	1	0	5	0	5	2	3	1	1	2	3	2	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:91974350G>T	ENST00000265742.3	+	7	1431	c.1055G>T	c.(1054-1056)gGa>gTa	p.G352V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	352							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)			ATGCCCTGTGGACATGACTTT	0.383																																																	0													355	325	334					7																	91974350		1902	4136	6038	SO:0001583	missense	0			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.1055G>T	7.37:g.91974350G>T	ENSP00000265742:p.Gly352Val		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING	p.G352V	ENST00000265742.3	37	c.1055	CCDS47639.1	7	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781460	0.70222	.	.	ENSG00000001629	ENST00000265742	T	0.14516	2.5	5.4	5.4	0.78164	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.054806	0.64402	D	0.000001	T	0.28333	0.0700	M	0.90369	3.11	0.80722	D	1	P	0.40144	0.704	B	0.38428	0.273	T	0.33085	-0.9882	10	0.87932	D	0	.	17.3463	0.87310	0.0:0.0:1.0:0.0	.	352	Q9P2G1	AKIB1_HUMAN	V	352	ENSP00000265742:G352V	ENSP00000265742:G352V	G	+	2	0	ANKIB1	91812286	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.398000	0.97281	2.534000	0.85438	0.467000	0.42956	GGA	ANKIB1	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000001629		0.383	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKIB1	HGNC	protein_coding	OTTHUMT00000342018.1		0	32	0	G			91974350	1			no_errors	ENST00000265742	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	91974350	G	T	91974350	3	4	163	1	0	0	0	0	1	0	0	0	630	1174	41	3	1077	3	ANKIB1	7	91974350	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	5558671	91974350	67164313	136	41341											
COL1A2	1278	genome.wustl.edu	37	chr7	94039079	94039079	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cccggcctccctggaccccgCggtattcctggccctgttgg	2	9	12	18	3	0	0	0	0	0	0	2	1	2	1	7	5	0	2	7	5	1	3	rs141762645	byFrequency	TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:94039079C>T	ENST00000297268.6	+	19	1452	c.981C>T	c.(979-981)cgC>cgT	p.R327R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	327					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)	CTGGACCCCGCGGTATTCCTG	0.592										HNSCC(75;0.22)			C|||	2	0.000399361	8e-04	0	5008	,	,		14100	0		0	False		,,,				2504	0.001																0								C		3,4403	6.2+/-15.9	0,3,2200	102	101	101		981	-7.5	1	7	dbSNP_134	101	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	COL1A2	NM_000089.3		0,6,6497	TT,TC,CC		0.0349,0.0681,0.0461		327/1367	94039079	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	0			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.981C>T	7.37:g.94039079C>T			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	p.R327	ENST00000297268.6	37	c.981	CCDS34682.1	7																																																																																			COL1A2	-	NULL	ENSG00000164692		0.592	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2		0	22	0	C	NM_000089		94039079	1			no_errors	ENST00000297268	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.946	T	T	94039079	C	T	94039079	2	4	163	1	0	0	0	0	0	0	0	1	3685	755	27	1		1	COL1A2	7	94039079	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	2064729	94039079	65099584	137	41342											
GPC2	221914	genome.wustl.edu	37	chr7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-																															gcagggcataagtgaggggaCcccccggcacaggggacagc																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:99771554delC	ENST00000292377.2	-	5	963	c.796delG	c.(796-798)gtcfs	p.V266fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	266					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGAGGGGACCCCCCGGCAC	0.642																																																	0													84	94	90					7																	99771554		2203	4300	6503	SO:0001589	frameshift_variant	0			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"Proteoglycans / Cell Surface : Glypicans"	4450	protein-coding gene	gene with protein product	"glypican proteoglycan 2, cerebroglycan proteoglycan"		"glypican 2 (cerebroglycan)"			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.796delG	7.37:g.99771554delC	ENSP00000292377:p.Val266fs		A4D2A7	Frame_Shift_Del	DEL	pfam_Glypican	p.V266fs	ENST00000292377.2	37	c.796	CCDS5689.1	7																																																																																			GPC2	-	pfam_Glypican	ENSG00000213420		0.642	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC2	HGNC	protein_coding	OTTHUMT00000337556.1		0	129	0	C	NM_152742		99771554	-1			no_errors	ENST00000292377	ensembl	human	known	74_37	frame_shift_del	5.04	113	6	DEL	0.000	0	-	99771554	C	-	99771554	7	5	163	1	0	1	0	1	0	0	0	0	6624	507	18	0	967	0	GPC2	7	99771554	Frame_Shift_Del	DEL	C	TCGA-VR-A8EQ-01A-11D-A36J-09	5732475	99771554	59367109	138	41343											
RINT1	60561	genome.wustl.edu	37	chr7	105189088	105189088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctgcccatccaggttatGctgactcctcttcagaagag	9	11	8	13	0	2	3	1	1	1	2	5	3	5	3	4	1	2	2	4	1	2	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:105189088G>A	ENST00000257700.2	+	7	1158	c.927G>A	c.(925-927)atG>atA	p.M309I		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	309	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				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						TCCAGGTTATGCTGACTCCTC	0.458																																																	0													195	177	183					7																	105189088		2203	4300	6503	SO:0001583	missense	0			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.927G>A	7.37:g.105189088G>A	ENSP00000257700:p.Met309Ile		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	pfam_RINT1_TIP1	p.M309I	ENST00000257700.2	37	c.927	CCDS34726.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967755	0.74131	.	.	ENSG00000135249	ENST00000257700	T	0.33654	1.4	5.93	5.93	0.95920	.	0.076510	0.85682	D	0.000000	T	0.41994	0.1183	L	0.45581	1.43	0.80722	D	1	P	0.35684	0.515	B	0.40636	0.335	T	0.10613	-1.0622	10	0.40728	T	0.16	-17.6605	20.3226	0.98684	0.0:0.0:1.0:0.0	.	309	Q6NUQ1	RINT1_HUMAN	I	309	ENSP00000257700:M309I	ENSP00000257700:M309I	M	+	3	0	RINT1	104976324	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	9.845000	0.99498	2.805000	0.96524	0.650000	0.86243	ATG	RINT1	-	pfam_RINT1_TIP1	ENSG00000135249		0.458	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RINT1	HGNC	protein_coding	OTTHUMT00000348686.1	-	0	43	0	G	NM_021930		105189088	1	tier1	-	no_errors	ENST00000257700	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	105189088	G	A	105189088	3	1	163	1	0	0	0	0	1	0	0	0	13421	1319	46	3	953	3	RINT1	7	105189088	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	5417534	105189088	53949575	139	41344											
ZC3HAV1L	92092	genome.wustl.edu	37	chr7	138713558	138713558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtagcagcttcaaagatGcagcatggataagctgatgg	12	9	12	8	0	1	2	1	1	0	1	1	3	1	3	1	2	5	6	1	2	3	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:138713558G>T	ENST00000275766.1	-	3	661	c.650C>A	c.(649-651)gCa>gAa	p.A217E		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	217										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						CTTCAAAGATGCAGCATGGAT	0.413																																																	0													112	102	105					7																	138713558		2203	4300	6503	SO:0001583	missense	0			BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 39"	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.650C>A	7.37:g.138713558G>T	ENSP00000275766:p.Ala217Glu		Q8WUD9	Missense_Mutation	SNP	NULL	p.A217E	ENST00000275766.1	37	c.650	CCDS5850.1	7	.	.	.	.	.	.	.	.	.	.	G	0.922	-0.715542	0.03206	.	.	ENSG00000146858	ENST00000275766	T	0.28454	1.61	5.62	3.71	0.42584	.	1.962480	0.02272	N	0.068558	T	0.22627	0.0546	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.24693	-1.0153	10	0.05525	T	0.97	.	12.5259	0.56085	0.0:0.0:0.609:0.3909	.	217	Q96H79	ZCCHL_HUMAN	E	217	ENSP00000275766:A217E	ENSP00000275766:A217E	A	-	2	0	ZC3HAV1L	138364098	0.000000	0.05858	0.002000	0.10522	0.126000	0.20510	0.356000	0.20181	1.509000	0.48786	0.650000	0.86243	GCA	ZC3HAV1L	-	NULL	ENSG00000146858		0.413	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1L	HGNC	protein_coding	OTTHUMT00000348090.1	-	0	92	0	G	NM_080660		138713558	-1	tier1	-	no_errors	ENST00000275766	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.000	T	T	138713558	G	T	138713558	3	4	163	1	0	0	0	0	1	0	0	0	17624	1319	46	3	264	3	ZC3HAV1L	7	138713558	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	33524470	138713558	20425105	140	41345											
KIAA1147	57189	genome.wustl.edu	37	chr7	141365000	141365000	+	Silent	SNP	C	C	T	0	0	0	1	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	tactcacaggccacataggaCacctctacctccaggctctc	10	8	6	17	0	3	0	1	0	2	0	5	1	4	1	4	3	2	1	4	3	3	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:141365000C>T	ENST00000536163.1	-	6	938	c.939G>A	c.(937-939)gtG>gtA	p.V313V	RP5-894A10.6_ENST00000602609.1_RNA|KIAA1147_ENST00000482493.1_Silent_p.V209V	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	313										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CCACATAGGACACCTCTACCT	0.607																																																	0													71	77	75					7																	141365000		2101	4223	6324	SO:0001819	synonymous_variant	0			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.939G>A	7.37:g.141365000C>T			Q9ULS3	Silent	SNP	pfam_DUF2347	p.V313	ENST00000536163.1	37	c.939	CCDS47726.1	7																																																																																			KIAA1147	-	pfam_DUF2347	ENSG00000257093		0.607	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1147	HGNC	protein_coding	OTTHUMT00000349104.1	-	0	61	0	C			141365000	-1	tier1	-	no_errors	ENST00000536163	ensembl	human	known	74_37	silent	34.78	30	16	SNP	1.000	T	T	141365000	C	T	141365000	2	4	163	1	0	0	0	0	0	0	0	1	8237	465	17	3		3	KIAA1147	7	141365000	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	2651442	141365000	17773663	141	41346											
PRSS37	136242	genome.wustl.edu	37	chr7	141537835	141537835	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagttccagtagcggacGatctgaatggggttaattgt	9	13	13	6	2	1	1	0	1	1	0	2	3	2	2	1	3	1	4	1	3	4	5	rs149011966		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:141537835G>T	ENST00000350549.3	-	3	626	c.255C>A	c.(253-255)atC>atA	p.I85I	PRSS37_ENST00000438520.1_Silent_p.I85I	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	85	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.I85I(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						AGTAGCGGACGATCTGAATGG	0.507																																																	1	Substitution - coding silent(1)	skin(1)											269	223	239					7																	141537835		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"Serine peptidases / Serine peptidases"	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.255C>A	7.37:g.141537835G>T			B2RPB5	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.I85	ENST00000350549.3	37	c.255	CCDS34764.1	7																																																																																			PRSS37	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000165076		0.507	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS37	HGNC	protein_coding	OTTHUMT00000347763.1		0	53	0	G	NM_001008270		141537835	-1			no_errors	ENST00000350549	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.280	T	T	141537835	G	T	141537835	2	4	163	1	0	0	0	0	0	0	0	1	12668	1048	37	2		2	PRSS37	7	141537835	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	172835	141537835	17600828	142	41347											
CNTNAP2	26047	genome.wustl.edu	37	chr7	147869444	147869444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacatctgggttcatatccGgatgctcgggccattgcacc	7	11	10	13	2	3	0	2	0	1	0	5	1	4	1	3	3	2	3	3	3	1	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr7:147869444G>A	ENST00000361727.3	+	18	3400	c.2884G>A	c.(2884-2886)Gga>Aga	p.G962R	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.G21R	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	962	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTTCATATCCGGATGCTCGGG	0.532										HNSCC(39;0.1)																																							0													113	108	110					7																	147869444		2203	4300	6503	SO:0001583	missense	0			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.2884G>A	7.37:g.147869444G>A	ENSP00000354778:p.Gly962Arg		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G962R	ENST00000361727.3	37	c.2884	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856056	0.71834	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;D	0.87491	-2.26;-2.26	5.28	4.4	0.53042	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.95421	0.8513	H	0.96633	3.855	0.53688	D	0.999971	D	0.89917	1.0	D	0.97110	1.0	D	0.96134	0.9095	10	0.87932	D	0	.	12.512	0.56011	0.0815:0.0:0.9185:0.0	.	962	Q9UHC6	CNTP2_HUMAN	R	962;21	ENSP00000354778:G962R;ENSP00000440732:G21R	ENSP00000354778:G962R	G	+	1	0	CNTNAP2	147500377	1.000000	0.71417	0.093000	0.20910	0.756000	0.42949	9.694000	0.98686	1.236000	0.43740	0.563000	0.77884	GGA	CNTNAP2	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000174469		0.532	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	-	0	78	0	G			147869444	1	tier1	-	no_errors	ENST00000361727	ensembl	human	known	74_37	missense	22.22	35	10	SNP	0.996	A	A	147869444	G	A	147869444	3	1	163	1	0	0	0	0	1	0	0	0	3654	1117	39	1	2954	1	CNTNAP2	7	147869444	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	6331609	147869444	11269219	143	41348											
CSMD1	64478	genome.wustl.edu	37	chr8	3038632	3038632	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagaaagagttgaccttacTtttgtattccaggtggaaac	13	12	9	7	0	0	3	0	1	0	2	1	4	1	4	2	2	2	2	2	2	4	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:3038632T>G	ENST00000520002.1	-	38	6283	c.5728A>C	c.(5728-5730)Act>Cct	p.T1910P	CSMD1_ENST00000602557.1_Splice_Site_p.T1910P|CSMD1_ENST00000602723.1_Splice_Site_p.T1910P|CSMD1_ENST00000537824.1_Splice_Site_p.T1909P|CSMD1_ENST00000400186.3_Splice_Site_p.T1910P|CSMD1_ENST00000542608.1_Splice_Site_p.T1909P|CSMD1_ENST00000539096.1_Splice_Site_p.T1909P|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1910	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.T1909P(1)|p.T1638P(1)		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)		TTGACCTTACTTTTGTATTCC	0.378																																																	2	Substitution - Missense(2)	lung(2)											72	69	70					8																	3038632		1871	4107	5978	SO:0001630	splice_region_variant	0					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.5728+1A>C	8.37:g.3038632T>G			Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T1910P	ENST00000520002.1	37	c.5728		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.059023|4.059023	0.76074|0.76074	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.60797	.|0.16;0.16;0.16;0.16;0.16	5.12|5.12	5.12|5.12	0.69794|0.69794	.|CUB (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74068|0.74068	0.3668|0.3668	M|M	0.72894|0.72894	2.215|2.215	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;P	.|0.76494	.|0.999;0.983;0.788	.|D;P;P	.|0.79784	.|0.993;0.811;0.533	T|T	0.75539|0.75539	-0.3282|-0.3282	5|9	.|.	.|.	.|.	.|.	14.9285|14.9285	0.70898|0.70898	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1910;1910;1910	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	T|P	1389|1910;1910;1771;1909;1909;1909	.|ENSP00000383047:T1910P;ENSP00000430733:T1910P;ENSP00000441462:T1909P;ENSP00000446243:T1909P;ENSP00000441675:T1909P	.|.	N|T	-|-	2|1	0|0	CSMD1|CSMD1	3026039|3026039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	6.011000|6.011000	0.70760|0.70760	1.923000|1.923000	0.55706|0.55706	0.533000|0.533000	0.62120|0.62120	AAC|ACT	CSMD1	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	77	0	T	NM_033225	Missense_Mutation	3038632	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	15.15	56	10	SNP	1.000	G	G	3038632	T	G	3038632	5	3	163	1	0	0	0	0	0	0	1	0	3953	1623	56	4	5105	4	CSMD1	8	3038632	Splice_Site	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09		3038632	143325390	144	41349											
CSMD1	64478	genome.wustl.edu	37	chr8	3216778	3216778	+	Missense_Mutation	SNP	A	A	G	1	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	ccaggaagcaggaaaacgtcAgagagtctcccacaccaaag	16	3	10	12	1	2	1	1	0	1	1	3	4	2	3	3	2	2	1	3	2	4	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:3216778A>G	ENST00000520002.1	-	22	3758	c.3203T>C	c.(3202-3204)cTg>cCg	p.L1068P	CSMD1_ENST00000602557.1_Missense_Mutation_p.L1068P|CSMD1_ENST00000602723.1_Missense_Mutation_p.L1068P|CSMD1_ENST00000537824.1_Missense_Mutation_p.L1067P|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1068P|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1067P|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1067P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1068	Sushi 6. {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)		GGAAAACGTCAGAGAGTCTCC	0.547																																																	0													69	76	74					8																	3216778		2202	4300	6502	SO:0001583	missense	0					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.3203T>C	8.37:g.3216778A>G	ENSP00000430733:p.Leu1068Pro		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.L1068P	ENST00000520002.1	37	c.3203		8	.	.	.	.	.	.	.	.	.	.	a	15.86	2.957370	0.53400	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.24	5.24	0.73138	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000023	D	0.85217	0.5646	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.998;0.987	D	0.88829	0.3304	10	0.87932	D	0	.	15.156	0.72743	1.0:0.0:0.0:0.0	.	1068;1068;1068	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	P	1068;1068;930;1067;1067;1067	ENSP00000383047:L1068P;ENSP00000430733:L1068P;ENSP00000441462:L1067P;ENSP00000446243:L1067P;ENSP00000441675:L1067P	ENSP00000320445:L930P	L	-	2	0	CSMD1	3204185	1.000000	0.71417	0.927000	0.36925	0.068000	0.16541	9.088000	0.94132	1.969000	0.57287	0.449000	0.29647	CTG	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.547	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	57	0	A	NM_033225		3216778	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	21.88	25	7	SNP	1.000	G	G	3216778	A	G	3216778	3	3	163	1	0	0	0	0	1	0	0	0	3953	188	7	4	7694	4	CSMD1	8	3216778	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	178146	3216778	143147244	145	41350											
DLC1	10395	genome.wustl.edu	37	chr8	12947789	12947789	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagctcagcctgctccGaagtggagtagctgacccag	10	6	13	12	1	1	1	1	1	0	0	2	4	2	3	3	2	4	4	3	2	2	1	rs139251311	byFrequency	TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:12947789G>T	ENST00000276297.4	-	15	4455	c.4046C>A	c.(4045-4047)tCg>tAg	p.S1349*	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Nonsense_Mutation_p.S838*|DLC1_ENST00000358919.2_Nonsense_Mutation_p.S912*|DLC1_ENST00000512044.2_Nonsense_Mutation_p.S946*	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1349	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.S1349L(1)		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						AGCCTGCTCCGAAGTGGAGTA	0.502																																																	1	Substitution - Missense(1)	large_intestine(1)											75	76	76					8																	12947789		2203	4300	6503	SO:0001587	stop_gained	0			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.4046C>A	8.37:g.12947789G>T	ENSP00000276297:p.Ser1349*		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Nonsense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.S1349*	ENST00000276297.4	37	c.4046	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	G	44	10.945485	0.99493	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	.	.	.	5.06	5.06	0.68205	.	0.119358	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	19.0004	0.92830	0.0:0.0:1.0:0.0	.	.	.	.	X	1349;912;288;946;838	.	ENSP00000276297:S1349X	S	-	2	0	DLC1	12992160	1.000000	0.71417	0.138000	0.22173	0.732000	0.41865	5.411000	0.66386	2.809000	0.96659	0.555000	0.69702	TCG	DLC1	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	ENSG00000164741		0.502	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2		0	36	0	G	NM_182643, NM_006094		12947789	-1			no_errors	ENST00000276297	ensembl	human	known	74_37	nonsense	10.00	18	2	SNP	0.790	T	T	12947789	G	T	12947789	4	4	163	1	0	0	0	0	0	1	0	0	4564	1059	37	2	556	2	DLC1	8	12947789	Nonsense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	9731011	12947789	133416233	146	41351											
HR	55806	genome.wustl.edu	37	chr8	21973915	21973915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaggaagtgctgagtgacGctgactgtgctcaccaggcc	9	7	15	10	1	1	4	1	3	0	1	1	6	1	5	2	2	2	3	2	2	1	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:21973915G>T	ENST00000381418.4	-	18	4885	c.3405C>A	c.(3403-3405)agC>agA	p.S1135R	HR_ENST00000312841.8_Missense_Mutation_p.S1080R	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1135	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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)		GCTGAGTGACGCTGACTGTGC	0.627																																																	0													133	86	102					8																	21973915		2203	4300	6503	SO:0001583	missense	0			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.3405C>A	8.37:g.21973915G>T	ENSP00000370826:p.Ser1135Arg		Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S1135R	ENST00000381418.4	37	c.3405	CCDS6022.1	8	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716006	0.68844	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.72942	-0.7;-0.7	4.95	-5.06	0.02946	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.197037	0.35708	N	0.003040	T	0.73257	0.3564	L	0.57536	1.79	0.32871	D	0.509218	D;D	0.56521	0.971;0.976	P;P	0.59288	0.773;0.855	T	0.77699	-0.2490	10	0.72032	D	0.01	-2.1624	12.9063	0.58154	0.2539:0.0:0.7461:0.0	.	1080;1135	O43593-2;O43593	.;HAIR_HUMAN	R	1135;1080	ENSP00000370826:S1135R;ENSP00000326765:S1080R	ENSP00000326765:S1080R	S	-	3	2	HR	22029860	0.158000	0.22850	0.861000	0.33841	0.991000	0.79684	-1.018000	0.03626	-1.026000	0.03330	-0.136000	0.14681	AGC	HR	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000168453		0.627	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HR	HGNC	protein_coding	OTTHUMT00000214213.1	-	0	44	0	G			21973915	-1	tier1	-	no_errors	ENST00000381418	ensembl	human	known	74_37	missense	9.52	37	4	SNP	0.931	T	T	21973915	G	T	21973915	3	4	163	1	0	0	0	0	1	0	0	0	7374	1078	38	2	172	2	HR	8	21973915	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	9026126	21973915	124390107	147	41352											
CHMP7	91782	genome.wustl.edu	37	chr8	23116593	23116593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacagctctgtgacacccaGgatgaagtttctcagactct	10	12	8	11	0	3	3	1	2	3	1	4	4	3	4	1	1	2	2	1	1	2	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:23116593G>T	ENST00000397677.1	+	9	1722	c.1074G>T	c.(1072-1074)caG>caT	p.Q358H	CHMP7_ENST00000313219.7_Missense_Mutation_p.Q358H|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	358					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GTGACACCCAGGATGAAGTTT	0.408																																																	0													138	139	139					8																	23116593		2203	4300	6503	SO:0001583	missense	0			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1074G>T	8.37:g.23116593G>T	ENSP00000380794:p.Gln358His		B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	pfam_Snf7	p.Q358H	ENST00000397677.1	37	c.1074	CCDS6040.1	8	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955863	0.73902	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.73152	-0.72;-0.72	5.97	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.66939	2.045	0.51767	D	0.99993	D	0.67145	0.996	D	0.64042	0.921	T	0.77117	-0.2706	10	0.42905	T	0.14	-19.885	10.2151	0.43164	0.2197:0.0:0.7803:0.0	.	358	Q8WUX9	CHMP7_HUMAN	H	358	ENSP00000380794:Q358H;ENSP00000324491:Q358H	ENSP00000324491:Q358H	Q	+	3	2	CHMP7	23172538	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.614000	0.54160	0.834000	0.34852	0.655000	0.94253	CAG	CHMP7	-	pfam_Snf7	ENSG00000147457		0.408	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP7	HGNC	protein_coding	OTTHUMT00000254717.1		0	49	0	G	NM_152272		23116593	1			no_errors	ENST00000313219	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	23116593	G	T	23116593	3	4	163	1	0	0	0	0	1	0	0	0	3368	991	35	3	1104	3	CHMP7	8	23116593	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1142678	23116593	123247429	148	41353											
PNOC	5368	genome.wustl.edu	37	chr8	28196758	28196758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttgttccaggagcaggaaGagcccgagcctggcatggag	9	6	16	10	1	0	1	0	0	0	1	1	5	1	4	3	4	3	4	3	4	1	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:28196758G>A	ENST00000301908.3	+	3	536	c.328G>A	c.(328-330)Gag>Aag	p.E110K	RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Missense_Mutation_p.E46K	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	110					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		GGAGCAGGAAGAGCCCGAGCC	0.632																																																	0													34	40	38					8																	28196758		2203	4300	6503	SO:0001583	missense	0				CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"Endogenous ligands"	9163	protein-coding gene	gene with protein product	"nocistatin"	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.328G>A	8.37:g.28196758G>A	ENSP00000301908:p.Glu110Lys		B7Z749|Q6FH16	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept	p.E110K	ENST00000301908.3	37	c.328	CCDS6066.1	8	.	.	.	.	.	.	.	.	.	.	G	14.10	2.436097	0.43224	.	.	ENSG00000168081	ENST00000518479;ENST00000301908;ENST00000522209	T;T	0.80824	0.49;-1.42	4.78	1.92	0.25849	.	1.040130	0.07554	N	0.915875	T	0.77157	0.4089	M	0.62088	1.915	0.09310	N	1	B	0.25007	0.116	B	0.29353	0.101	T	0.64032	-0.6502	10	0.52906	T	0.07	-0.5572	4.9131	0.13833	0.1925:0.1738:0.6337:0.0	.	110	Q13519	PNOC_HUMAN	K	110;110;46	ENSP00000428059:E110K;ENSP00000301908:E110K	ENSP00000301908:E110K	E	+	1	0	PNOC	28252677	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	0.640000	0.24705	0.202000	0.20498	0.655000	0.94253	GAG	PNOC	-	NULL	ENSG00000168081		0.632	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNOC	HGNC	protein_coding	OTTHUMT00000219964.2	-	0	40	0	G	NM_006228		28196758	1	tier1	-	no_errors	ENST00000301908	ensembl	human	known	74_37	missense	17.07	34	7	SNP	0.003	A	A	28196758	G	A	28196758	3	1	163	1	0	0	0	0	1	0	0	0	12201	943	33	3	334	3	PNOC	8	28196758	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	5080165	28196758	118167264	149	41354											
NRG1	3084	genome.wustl.edu	37	chr8	32616855	32616855	+	Missense_Mutation	SNP	A	A	G	1	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	taaaaacgtcatctccagtgAgcatattgttgagagagaag	15	10	10	6	1	2	3	1	2	1	2	3	5	2	3	1	0	2	2	1	0	5	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:32616855A>G	ENST00000405005.3	+	10	962	c.962A>G	c.(961-963)gAg>gGg	p.E321G	NRG1_ENST00000523079.1_Missense_Mutation_p.E318G|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000338921.4_Missense_Mutation_p.E329G|NRG1_ENST00000521670.1_Missense_Mutation_p.E321G|NRG1_ENST00000539990.1_Missense_Mutation_p.E164G|NRG1_ENST00000519301.1_Missense_Mutation_p.E271G|NRG1_ENST00000356819.4_Missense_Mutation_p.E326G|NRG1_ENST00000287845.5_Missense_Mutation_p.E292G|NRG1_ENST00000287842.3_Missense_Mutation_p.E318G			Q02297	NRG1_HUMAN	neuregulin 1	321					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)		ATCTCCAGTGAGCATATTGTT	0.428																																																	0													191	161	171					8																	32616855		2203	4300	6503	SO:0001583	missense	0			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.962A>G	8.37:g.32616855A>G	ENSP00000384620:p.Glu321Gly		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	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.E329G	ENST00000405005.3	37	c.986	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	A	26.4	4.738631	0.89573	.	.	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	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04	6.16	6.16	0.99307	Neuregulin 1-related, C-terminal (1);	0.114367	0.64402	D	0.000017	T	0.75554	0.3865	L	0.49126	1.545	0.58432	D	0.999992	D;D;D;D;D;D;P;D;D;D;D	0.76494	0.996;0.998;0.999;0.971;0.977;0.998;0.885;0.971;0.987;0.971;0.997	D;D;D;P;D;D;B;P;D;P;D	0.83275	0.996;0.966;0.988;0.855;0.911;0.988;0.392;0.855;0.964;0.855;0.984	T	0.76353	-0.2990	10	0.59425	D	0.04	-2.3719	16.8061	0.85666	1.0:0.0:0.0:0.0	.	164;167;318;292;326;317;329;318;321;326;321	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.	G	288;271;394;318;329;326;321;292;318;321;321;164	ENSP00000430053:E288G;ENSP00000429582:E271G;ENSP00000429067:E394G;ENSP00000430120:E318G;ENSP00000343395:E329G;ENSP00000349275:E326G;ENSP00000287840:E321G;ENSP00000287845:E292G;ENSP00000287842:E318G;ENSP00000384620:E321G;ENSP00000428828:E321G;ENSP00000439276:E164G	ENSP00000287840:E321G	E	+	2	0	NRG1	32736397	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.330000	0.90019	2.367000	0.80283	0.528000	0.53228	GAG	NRG1	-	pfam_Neuregulin_1_C,prints_Neuregulin	ENSG00000157168		0.428	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	73	0	A			32616855	1	tier1	-	no_errors	ENST00000338921	ensembl	human	known	74_37	missense	8.11	68	6	SNP	1.000	G	G	32616855	A	G	32616855	3	3	163	1	0	0	0	0	1	0	0	0	10686	304	11	4	2596	4	NRG1	8	32616855	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	4420097	32616855	113747167	150	41355											
AGPAT6	137964	genome.wustl.edu	37	chr8	41469749	41469749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccaatcatacctcacCgatcgatgtgatcatcttgg	9	12	9	11	2	4	1	3	1	1	0	5	3	4	1	3	2	1	0	3	2	2	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:41469749C>T	ENST00000396987.3	+	7	1679	c.752C>T	c.(751-753)cCg>cTg	p.P251L	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	251					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)			CATACCTCACCGATCGATGTG	0.458																																																	0													170	143	152					8																	41469749		2203	4300	6503	SO:0001583	missense	0			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.752C>T	8.37:g.41469749C>T	ENSP00000380184:p.Pro251Leu		Q86V89	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.P251L	ENST00000396987.3	37	c.752	CCDS6117.1	8	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053385	0.75960	.	.	ENSG00000158669	ENST00000396987	D	0.92299	-3.01	5.03	5.03	0.67393	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.95121	0.8419	M	0.80508	2.5	0.80722	D	1	D	0.56968	0.978	P	0.55871	0.786	D	0.95578	0.8644	10	0.72032	D	0.01	.	17.5492	0.87871	0.0:1.0:0.0:0.0	.	251	Q86UL3	GPAT4_HUMAN	L	251	ENSP00000380184:P251L	ENSP00000380184:P251L	P	+	2	0	AGPAT6	41588906	1.000000	0.71417	0.150000	0.22450	0.170000	0.22686	7.617000	0.83032	2.620000	0.88729	0.655000	0.94253	CCG	AGPAT6	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	ENSG00000158669		0.458	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT6	HGNC	protein_coding	OTTHUMT00000377158.1	-	0	60	0	C	NM_178819		41469749	1	tier1	-	no_errors	ENST00000396987	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.999	T	T	41469749	C	T	41469749	3	4	163	1	0	0	0	0	1	0	0	0	391	652	23	1	774	1	AGPAT6	8	41469749	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	8852894	41469749	104894273	151	41356											
ANK1	286	genome.wustl.edu	37	chr8	41580706	41580706	+	Missense_Mutation	SNP	A	A	T	1	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	tctgagattcgcacgtgcccAtttcgagctgcacagtggag	8	10	12	11	3	1	1	0	1	1	1	3	4	1	2	1	1	3	3	1	1	0	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:41580706A>T	ENST00000347528.4	-	9	929	c.846T>A	c.(844-846)aaT>aaA	p.N282K	ANK1_ENST00000289734.7_Missense_Mutation_p.N282K|ANK1_ENST00000352337.4_Missense_Mutation_p.N282K|ANK1_ENST00000396942.1_Missense_Mutation_p.N282K|ANK1_ENST00000396945.1_Missense_Mutation_p.N282K|ANK1_ENST00000265709.8_Missense_Mutation_p.N315K|ANK1_ENST00000379758.2_Missense_Mutation_p.N282K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	282	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCACGTGCCCATTTCGAGCTG	0.498																																																	0													157	137	144					8																	41580706		2203	4300	6503	SO:0001583	missense	0			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.846T>A	8.37:g.41580706A>T	ENSP00000339620:p.Asn282Lys		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.N282K	ENST00000347528.4	37	c.846	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998847	0.74818	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.41	0.255	0.15561	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	N	0.17838	0.53	0.58432	D	0.999997	D;D;P;D;D	0.89917	1.0;1.0;0.949;0.988;1.0	D;D;P;P;D	0.97110	1.0;1.0;0.569;0.799;1.0	T	0.56486	-0.7971	10	0.46703	T	0.11	.	8.9781	0.35948	0.7004:0.0:0.2996:0.0	.	315;282;282;282;282	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	K	282;282;282;282;282;282;315;282	ENSP00000339620:N282K;ENSP00000289734:N282K;ENSP00000369082:N282K;ENSP00000380149:N282K;ENSP00000380147:N282K;ENSP00000309131:N282K;ENSP00000265709:N315K	ENSP00000265709:N315K	N	-	3	2	ANK1	41699863	0.989000	0.36119	0.997000	0.53966	0.985000	0.73830	0.384000	0.20668	-0.176000	0.10707	-0.290000	0.09829	AAT	ANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000029534		0.498	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	-	0	69	0	A	NM_020475		41580706	-1	tier1	-	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	41580706	A	T	41580706	3	4	163	1	0	0	0	0	1	0	0	0	620	214	8	5	5289	5	ANK1	8	41580706	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	110957	41580706	104783316	152	41357											
ADHFE1	137872	genome.wustl.edu	37	chr8	67357611	67357611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagtgcccccattggcaaggGaaagcctgtgtctgtgcctc	7	9	12	13	0	1	0	0	0	1	0	2	1	1	1	4	2	3	1	4	2	2	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:67357611G>A	ENST00000396623.3	+	6	543	c.512G>A	c.(511-513)gGa>gAa	p.G171E	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.G123E|ADHFE1_ENST00000379385.4_Missense_Mutation_p.G171E	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	171					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)			ATTGGCAAGGGAAAGCCTGTG	0.433																																																	0													261	239	246					8																	67357611		2203	4300	6503	SO:0001583	missense	0			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.512G>A	8.37:g.67357611G>A	ENSP00000379865:p.Gly171Glu		B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	pfam_ADH_Fe	p.G171E	ENST00000396623.3	37	c.512	CCDS6190.2	8	.	.	.	.	.	.	.	.	.	.	G	33	5.233116	0.95207	.	.	ENSG00000147576	ENST00000379385;ENST00000396623;ENST00000415254	T;T;T	0.40476	1.03;1.03;1.03	5.85	5.85	0.93711	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.66548	0.2800	M	0.80616	2.505	0.80722	D	1	D	0.61080	0.989	P	0.61940	0.896	T	0.66236	-0.5974	9	.	.	.	-0.6991	20.1731	0.98165	0.0:0.0:1.0:0.0	.	171	Q8IWW8	HOT_HUMAN	E	171;171;123	ENSP00000368695:G171E;ENSP00000379865:G171E;ENSP00000407115:G123E	.	G	+	2	0	ADHFE1	67520165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.617000	0.83032	2.768000	0.95171	0.655000	0.94253	GGA	ADHFE1	-	pfam_ADH_Fe	ENSG00000147576		0.433	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADHFE1	HGNC	protein_coding	OTTHUMT00000316867.3	-	0	47	0	G	NM_144650		67357611	1	tier1	-	no_errors	ENST00000396623	ensembl	human	known	74_37	missense	42.00	29	21	SNP	1.000	A	A	67357611	G	A	67357611	3	1	163	1	0	0	0	0	1	0	0	0	314	1174	41	3	534	3	ADHFE1	8	67357611	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	25776905	67357611	79006411	153	41358											
CA2	760	genome.wustl.edu	37	chr8	86389489	86389489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcaaggaacccatcagCgtcagcagcgagcaggtttg	10	7	13	11	2	3	0	3	0	0	0	3	2	3	1	1	2	6	4	1	2	2	1	rs376387073	byFrequency	TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:86389489C>T	ENST00000285379.5	+	6	878	c.648C>T	c.(646-648)agC>agT	p.S216S		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	216					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	AACCCATCAGCGTCAGCAGCG	0.517													C|||	15	0.00299521	0	0	5008	,	,		18213	0		0	False		,,,				2504	0.0153																0								C		0,4406		0,0,2203	243	235	237		648	-9.1	0	8		237	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CA2	NM_000067.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		216/261	86389489	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"Carbonic anhydrases"	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.648C>T	8.37:g.86389489C>T			B2R7G8|Q6FI12|Q96ET9	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.S216	ENST00000285379.5	37	c.648	CCDS6239.1	8																																																																																			CA2	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000104267		0.517	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA2	HGNC	protein_coding	OTTHUMT00000381097.2	-	0	92	0	C	NM_000067		86389489	1	tier1	-	no_errors	ENST00000285379	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.009	T	T	86389489	C	T	86389489	2	4	163	1	0	0	0	0	0	0	0	1	2523	767	27	1		1	CA2	8	86389489	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	19031878	86389489	59974533	154	41359											
MMP16	4325	genome.wustl.edu	37	chr8	89086899	89086899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatactaggaggcaagccccGccagaagtaagtaatttgca	14	7	11	9	1	0	1	0	0	0	1	0	3	0	2	3	2	3	4	3	2	6	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:89086899G>A	ENST00000286614.6	-	7	1437	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	386					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGCAAGCCCCGCCAGAAGTAA	0.433																																																	0													138	135	136					8																	89086899		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1156C>T	8.37:g.89086899G>A	ENSP00000286614:p.Arg386Trp		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R386W	ENST00000286614.6	37	c.1156	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888164	0.72524	.	.	ENSG00000156103	ENST00000286614	T	0.02787	4.16	4.88	0.476	0.16779	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.099224	0.64402	D	0.000003	T	0.16257	0.0391	M	0.88979	2.995	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.929	T	0.03287	-1.1052	10	0.49607	T	0.09	.	14.5279	0.67902	0.0:0.0:0.4489:0.5511	.	386;386	P51512-2;P51512	.;MMP16_HUMAN	W	386	ENSP00000286614:R386W	ENSP00000286614:R386W	R	-	1	2	MMP16	89156015	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.213000	0.32407	0.151000	0.19162	-0.158000	0.13435	CGG	MMP16	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat	ENSG00000156103		0.433	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0	78	0	G	NM_005941		89086899	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	29.69	45	19	SNP	1.000	A	A	89086899	G	A	89086899	3	1	163	1	0	0	0	0	1	0	0	0	9693	1086	38	1	839	1	MMP16	8	89086899	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2697410	89086899	57277123	155	41360											
KCNS2	3788	genome.wustl.edu	37	chr8	99441400	99441400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctgcctgcatcttggcagGcatcctcgtggtggtcctgc	3	12	12	14	1	2	0	0	0	2	0	5	0	4	0	3	4	3	3	3	4	0	1	rs201132040		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:99441400G>A	ENST00000287042.4	+	2	1543	c.1193G>A	c.(1192-1194)gGc>gAc	p.G398D	KCNS2_ENST00000521839.1_Missense_Mutation_p.G398D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	398					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)			ATCTTGGCAGGCATCCTCGTG	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		20631	0		0	False		,,,				2504	0				Pancreas(138;844 2489 9202 24627)												0													108	102	104					8																	99441400		2203	4300	6503	SO:0001583	missense	0			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.1193G>A	8.37:g.99441400G>A	ENSP00000287042:p.Gly398Asp		A8KAN1	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2	p.G398D	ENST00000287042.4	37	c.1193	CCDS6279.1	8	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.7	4.194028	0.78902	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.98996	-5.31;-5.31	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97338	0.9955	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	398	Q9ULS6	KCNS2_HUMAN	D	398	ENSP00000287042:G398D;ENSP00000430712:G398D	ENSP00000287042:G398D	G	+	2	0	KCNS2	99510576	1.000000	0.71417	0.770000	0.31555	0.981000	0.71138	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	GGC	KCNS2	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv2	ENSG00000156486		0.577	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS2	HGNC	protein_coding	OTTHUMT00000103134.1		0	27	0	G	NM_020697		99441400	1			no_errors	ENST00000287042	ensembl	human	known	74_37	missense	18.18	9	2	SNP	1.000	A	A	99441400	G	A	99441400	3	1	163	1	0	0	0	0	1	0	0	0	8116	1203	42	3	1195	3	KCNS2	8	99441400	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	10354501	99441400	46922622	156	41361											
VPS13B	157680	genome.wustl.edu	37	chr8	100128051	100128051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggcaattttaaagaaggcGaaatagaggaccttacttgt	15	11	10	5	1	0	2	0	0	0	2	0	4	0	3	1	3	1	1	1	3	8	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:100128051G>A	ENST00000358544.2	+	7	997	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	VPS13B_ENST00000441350.2_Missense_Mutation_p.E296K|VPS13B_ENST00000357162.2_Missense_Mutation_p.E296K|VPS13B_ENST00000395996.1_Missense_Mutation_p.E296K|VPS13B_ENST00000355155.1_Missense_Mutation_p.E296K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	296					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)			TAAAGAAGGCGAAATAGAGGA	0.294																																					Colon(161;2205 2542 7338 31318)												0													78	80	79					8																	100128051		2203	4296	6499	SO:0001583	missense	0			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.886G>A	8.37:g.100128051G>A	ENSP00000351346:p.Glu296Lys		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E296K	ENST00000358544.2	37	c.886	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539883	0.65085	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.84660	-1.34;-0.7;-0.68;-0.38;-1.88	5.65	5.65	0.86999	.	0.063968	0.64402	D	0.000011	D	0.89966	0.6868	L	0.42245	1.32	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.997;0.995;0.981;0.844	D;P;P;B;B	0.70935	0.971;0.678;0.481;0.204;0.154	D	0.89894	0.4039	10	0.56958	D	0.05	.	19.7362	0.96205	0.0:0.0:1.0:0.0	.	296;296;296;296;296	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	K	296	ENSP00000347281:E296K;ENSP00000349685:E296K;ENSP00000351346:E296K;ENSP00000379318:E296K;ENSP00000398472:E296K	ENSP00000347281:E296K	E	+	1	0	VPS13B	100197227	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	8.913000	0.92730	2.678000	0.91216	0.655000	0.94253	GAA	VPS13B	-	NULL	ENSG00000132549		0.294	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	-	0	60	0	G	NM_184042		100128051	1	tier1	-	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	A	A	100128051	G	A	100128051	3	1	163	1	0	0	0	0	1	0	0	0	17239	1059	37	1	908	1	VPS13B	8	100128051	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	686651	100128051	46235971	157	41362											
ODF1	4956	genome.wustl.edu	37	chr8	103572944	103572944	+	Missense_Mutation	SNP	T	T	G	0	1	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	tcctatgggctcggcagctgTgtcaagatcgagtctccttg	6	12	12	11	2	2	1	1	0	1	1	6	2	3	1	2	2	1	3	2	2	2	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:103572944T>G	ENST00000285402.3	+	2	741	c.585T>G	c.(583-585)tgT>tgG	p.C195W	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	195					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				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)			TCGGCAGCTGTGTCAAGATCG	0.567																																																	0													112	81	91					8																	103572944		2203	4300	6503	SO:0001583	missense	0			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.585T>G	8.37:g.103572944T>G	ENSP00000285402:p.Cys195Trp		Q3SX72	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	p.C195W	ENST00000285402.3	37	c.585	CCDS6293.1	8	.	.	.	.	.	.	.	.	.	.	T	14.18	2.458314	0.43634	.	.	ENSG00000155087	ENST00000285402	D	0.86497	-2.13	5.06	-4.87	0.03123	Heat shock protein Hsp20 (1);	0.000000	0.64402	D	0.000012	T	0.80949	0.4722	N	0.08118	0	0.53688	D	0.999976	D	0.67145	0.996	D	0.70716	0.97	T	0.78465	-0.2193	10	0.87932	D	0	-15.1727	8.1327	0.31037	0.1227:0.1846:0.0:0.6927	.	195	Q14990	ODFP1_HUMAN	W	195	ENSP00000285402:C195W	ENSP00000285402:C195W	C	+	3	2	ODF1	103642120	0.002000	0.14202	0.835000	0.33067	0.829000	0.46940	-2.139000	0.01302	-0.804000	0.04410	-1.477000	0.00996	TGT	ODF1	-	pfscan_a-crystallin/Hsp20_dom	ENSG00000155087		0.567	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF1	HGNC	protein_coding	OTTHUMT00000379884.1	-	0	66	0	T			103572944	1	tier1	-	no_errors	ENST00000285402	ensembl	human	known	74_37	missense	36.36	28	16	SNP	0.387	G	G	103572944	T	G	103572944	3	3	163	1	0	0	0	0	1	0	0	0	10865	1702	59	4	591	4	ODF1	8	103572944	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	3444893	103572944	42791078	158	41363											
ANGPT1	284	genome.wustl.edu	37	chr8	108334253	108334253	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctcctggattatatatgTttgacgagtaaccaagcctt	11	13	8	9	1	0	1	0	1	0	0	1	3	1	2	3	1	3	3	3	1	5	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:108334253T>G	ENST00000520734.1	-	3	364	c.79A>C	c.(79-81)Aca>Cca	p.T27P	ANGPT1_ENST00000518386.1_5'Flank|ANGPT1_ENST00000520052.1_Missense_Mutation_p.T27P			Q15389	ANGP1_HUMAN	angiopoietin 1	227					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			ATTATATATGTTTGACGAGTA	0.408																																																	0													197	180	186					8																	108334253		2203	4300	6503	SO:0001583	missense	0			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.79A>C	8.37:g.108334253T>G	ENSP00000430750:p.Thr27Pro		Q5HYA0	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.T227P	ENST00000520734.1	37	c.679		8	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580368	0.46006	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820;ENST00000520734;ENST00000520052	T;T;T;T	0.54479	0.92;0.92;0.58;0.57	5.35	2.91	0.33838	.	0.188455	0.53938	D	0.000047	T	0.40791	0.1131	L	0.43152	1.355	0.33359	D	0.572057	B;B;B	0.32010	0.351;0.136;0.136	B;B;B	0.34180	0.177;0.102;0.102	T	0.45775	-0.9238	10	0.25751	T	0.34	.	7.1372	0.25535	0.131:0.0713:0.0:0.7977	.	27;227;227	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	P	227;227;39;27;27	ENSP00000428340:T227P;ENSP00000297450:T227P;ENSP00000430750:T27P;ENSP00000429349:T27P	ENSP00000297450:T227P	T	-	1	0	ANGPT1	108403429	1.000000	0.71417	0.310000	0.25168	0.962000	0.63368	5.692000	0.68256	0.323000	0.23307	-0.256000	0.11100	ACA	ANGPT1	-	NULL	ENSG00000154188		0.408	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	ANGPT1	HGNC	protein_coding	OTTHUMT00000380428.2	-	0	50	0	T	NM_001146, NM_139290		108334253	-1	tier1	-	no_errors	ENST00000517746	ensembl	human	known	74_37	missense	13.41	71	11	SNP	0.951	G	G	108334253	T	G	108334253	3	3	163	1	0	0	0	0	1	0	0	0	610	1725	60	4	841	4	ANGPT1	8	108334253	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	4761309	108334253	38029769	159	41364											
ANGPT1	284	genome.wustl.edu	37	chr8	108359297	108359297	+	IGR	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatctgggccatctccgacTtcatgttttccacaatgtaa	9	14	7	11	1	3	0	1	0	2	0	5	1	4	0	3	1	0	3	3	1	3	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:108359297T>G								ANGPT1 (10547 upstream) : RNA5SP275 (537424 downstream)																							CATCTCCGACTTCATGTTTTC	0.453																																																	0													142	131	135					8																	108359297		2203	4300	6503	SO:0001628	intergenic_variant	0																															8.37:g.108359297T>G				Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.K109T		37	c.326		8	.	.	.	.	.	.	.	.	.	.	T	15.93	2.978560	0.53720	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520033	D;D	0.85013	-1.93;-1.93	5.94	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.87481	0.6188	M	0.69823	2.125	0.80722	D	1	P;P	0.42556	0.783;0.783	P;P	0.48189	0.57;0.57	D	0.87494	0.2429	10	0.72032	D	0.01	.	12.1291	0.53932	0.0:0.0669:0.0:0.9331	.	109;109	Q5HYA0;Q15389	.;ANGP1_HUMAN	T	109;109;2	ENSP00000428340:K109T;ENSP00000297450:K109T	ENSP00000297450:K109T	K	-	2	0	ANGPT1	108428473	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.085000	0.57657	1.061000	0.40601	-0.280000	0.10049	AAG	ANGPT1	-	NULL	ENSG00000154188	0	0.453					ANGPT1	HGNC			-	0	65	0	T			108359297	-1	tier1	-	no_errors	ENST00000517746	ensembl	human	known	74_37	missense	12.73	48	7	SNP	1.000	G	G	108359297	T	G	108359297	1	3	163	0	1	0	0	0	0	0	0	0	610	1609	56	4		4	ANGPT1	8	108359297	IGR	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	25044	108359297	38004725	160	41365											
CSMD3	114788	genome.wustl.edu	37	chr8	114111134	114111134	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatggtactcattaggaaaActagggctggatatgatgcc	12	12	11	6	0	1	1	1	1	0	0	1	3	1	3	1	4	3	2	1	4	7	5	rs201269934		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:114111134A>C	ENST00000297405.5	-	5	1012	c.768T>G	c.(766-768)agT>agG	p.S256R	CSMD3_ENST00000343508.3_Missense_Mutation_p.S216R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S256R|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.S256R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	256	CUB 2. {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						CATTAGGAAAACTAGGGCTGG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													122	106	112					8																	114111134		2203	4300	6503	SO:0001583	missense	0			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.768T>G	8.37:g.114111134A>C	ENSP00000297405:p.Ser256Arg		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S256R	ENST00000297405.5	37	c.768	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	18.24	3.579972	0.65992	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.41	1.77	0.24775	CUB (5);	0.227214	0.39274	N	0.001405	T	0.18087	0.0434	L	0.28504	0.86	0.27825	N	0.941678	B;B;B;B	0.32467	0.202;0.062;0.372;0.051	B;B;B;B	0.30179	0.034;0.032;0.112;0.062	T	0.12889	-1.0530	10	0.72032	D	0.01	.	5.0457	0.14483	0.5997:0.0:0.2668:0.1335	.	256;256;256;216	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	R	216;256;256;256	ENSP00000345799:S216R;ENSP00000297405:S256R;ENSP00000412263:S256R;ENSP00000343124:S256R	ENSP00000297405:S256R	S	-	3	2	CSMD3	114180310	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.484000	0.35508	0.437000	0.26423	0.533000	0.62120	AGT	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	58	0	A	NM_052900		114111134	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	18.03	50	11	SNP	0.995	C	C	114111134	A	C	114111134	3	2	163	1	0	0	0	0	1	0	0	0	3955	40	2	4	10623	4	CSMD3	8	114111134	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	5751837	114111134	32252888	161	41366											
COL22A1	169044	genome.wustl.edu	37	chr8	139658917	139658917	+	Silent	SNP	A	A	G	1	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	cctggtaggcctggaggcccAgcctctccctgtatcaggga	6	8	13	14	0	2	0	1	0	1	0	3	2	2	2	5	5	1	2	5	5	2	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr8:139658917A>G	ENST00000303045.6	-	47	3902	c.3456T>C	c.(3454-3456)gcT>gcC	p.A1152A	COL22A1_ENST00000435777.1_Silent_p.A1132A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1152	Collagen-like 10.|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)			CTGGAGGCCCAGCCTCTCCCT	0.507										HNSCC(7;0.00092)																																							0													25	24	24					8																	139658917		2203	4299	6502	SO:0001819	synonymous_variant	0			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.3456T>C	8.37:g.139658917A>G			B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.A1152	ENST00000303045.6	37	c.3456	CCDS6376.1	8																																																																																			COL22A1	-	pfam_Collagen	ENSG00000169436		0.507	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	-	0	105	0	A	XM_291257		139658917	-1	tier1	-	no_errors	ENST00000303045	ensembl	human	known	74_37	silent	17.91	55	12	SNP	0.999	G	G	139658917	A	G	139658917	2	3	163	1	0	0	0	0	0	0	0	1	3688	175	7	4		4	COL22A1	8	139658917	Silent	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	25547783	139658917	6705105	162	41367											
MPDZ	8777	genome.wustl.edu	37	chr9	13110012	13110012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaaagactggaacttgCaggctcctgctgatgacctg	12	8	12	9	0	0	4	0	2	0	2	1	6	1	5	2	2	3	3	2	2	3	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:13110012C>A	ENST00000319217.7	-	45	6128	c.5881G>T	c.(5881-5883)Gca>Tca	p.A1961S	MPDZ_ENST00000381022.2_Missense_Mutation_p.A1932S|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1899S|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1975S|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1932S|MPDZ_ENST00000541093.1_Missense_Mutation_p.A195S|MPDZ_ENST00000538841.1_Missense_Mutation_p.A820S|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1961S|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1928S	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1961					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.A1933S(1)|p.A1932S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTGGAACTTGCAGGCTCCTGC	0.458																																																	2	Substitution - Missense(2)	lung(2)											74	74	74					9																	13110012		1985	4173	6158	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5881G>T	9.37:g.13110012C>A	ENSP00000320006:p.Ala1961Ser		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.A1961S	ENST00000319217.7	37	c.5881		9	.	.	.	.	.	.	.	.	.	.	C	5.562	0.288497	0.10513	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.13778	2.85;2.82;2.82;2.56;2.63;2.79;2.82;2.83;2.87;2.85;2.85	5.83	1.89	0.25635	PDZ/DHR/GLGF (1);	0.871227	0.09683	N	0.769523	T	0.06554	0.0168	N	0.19112	0.55	0.09310	N	1	B;B;B;B;P;B;B;B	0.35174	0.236;0.001;0.0;0.348;0.488;0.348;0.013;0.0	B;B;B;B;B;B;B;B	0.36244	0.05;0.002;0.003;0.22;0.155;0.108;0.013;0.001	T	0.25950	-1.0117	10	0.05959	T	0.93	.	2.1696	0.03846	0.1154:0.3619:0.3025:0.2202	.	1899;820;666;1928;1841;1932;1961;654	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	S	1961;1932;1932;502;195;897;820;1899;1928;1961;1841;1975	ENSP00000320006:A1961S;ENSP00000439807:A1932S;ENSP00000370410:A1932S;ENSP00000415964:A502S;ENSP00000445259:A195S;ENSP00000444230:A897S;ENSP00000444717:A820S;ENSP00000444151:A1899S;ENSP00000415208:A1928S;ENSP00000370403:A1961S;ENSP00000446358:A1975S	ENSP00000320006:A1961S	A	-	1	0	MPDZ	13100012	0.193000	0.23313	0.061000	0.19648	0.474000	0.32979	0.411000	0.21115	0.467000	0.27218	0.644000	0.83932	GCA	MPDZ	-	superfamily_PDZ	ENSG00000107186		0.458	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2		0	50	0	C	NM_003829		13110012	-1			no_errors	ENST00000319217	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.005	A	A	13110012	C	A	13110012	3	1	163	1	0	0	0	0	1	0	0	0	9760	710	25	3	343	3	MPDZ	9	13110012	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09		13110012	128103419	163	41368											
FREM1	158326	genome.wustl.edu	37	chr9	14788929	14788929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcttttacctttttccatgtCcttgatggtgatttgacagt	6	19	8	8	0	0	3	0	3	0	0	2	3	2	3	3	1	1	1	3	1	1	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:14788929C>T	ENST00000380880.3	-	23	4948	c.4165G>A	c.(4165-4167)Gac>Aac	p.D1389N	FREM1_ENST00000422223.2_Missense_Mutation_p.D1389N|FREM1_ENST00000380881.4_Missense_Mutation_p.D1390N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1389					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTTCCATGTCCTTGATGGTG	0.448																																																	0													91	89	89					9																	14788929		1944	4122	6066	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4165G>A	9.37:g.14788929C>T	ENSP00000370262:p.Asp1389Asn		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.D1390N	ENST00000380880.3	37	c.4168	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	15.70	2.912422	0.52439	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.29142	1.58;1.58;1.58	5.79	3.93	0.45458	.	0.258932	0.44097	N	0.000493	T	0.20210	0.0486	L	0.28274	0.84	0.53688	D	0.999973	B	0.06786	0.001	B	0.08055	0.003	T	0.04522	-1.0945	10	0.18710	T	0.47	-9.5453	11.523	0.50562	0.0:0.8067:0.1259:0.0675	.	1389	Q5H8C1	FREM1_HUMAN	N	1390;1389;1389	ENSP00000370263:D1390N;ENSP00000412940:D1389N;ENSP00000370262:D1389N	ENSP00000370262:D1389N	D	-	1	0	FREM1	14778929	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	2.267000	0.43329	0.773000	0.33404	0.655000	0.94253	GAC	FREM1	-	NULL	ENSG00000164946		0.448	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	-	0	113	0	C	NM_144966		14788929	-1	tier1	-	no_errors	ENST00000380881	ensembl	human	known	74_37	missense	37.29	37	22	SNP	1.000	T	T	14788929	C	T	14788929	3	4	163	1	0	0	0	0	1	0	0	0	6068	855	30	3	2484	3	FREM1	9	14788929	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	1678917	14788929	126424502	164	41369											
TTC39B	158219	genome.wustl.edu	37	chr9	15177695	15177695	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttattgtttggtcttacCtttccacaacatgattgtaa	9	19	6	7	0	1	1	0	1	1	0	2	1	2	1	2	1	2	3	2	1	4	8			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:15177695C>A	ENST00000512701.2	-	18	1877	c.1841G>T	c.(1840-1842)aGt>aTt	p.S614I	TTC39B_ENST00000297615.5_Splice_Site_p.S545I|TTC39B_ENST00000507993.1_Splice_Site_p.S449I|TTC39B_ENST00000507285.1_Splice_Site_p.S449I|TTC39B_ENST00000355694.2_Splice_Site_p.S548I|TTC39B_ENST00000380850.4_Splice_Site_p.S601I			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	614								p.S548I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TTGGTCTTACCTTTCCACAAC	0.408																																																	1	Substitution - Missense(1)	prostate(1)											150	135	140					9																	15177695		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1841+1G>T	9.37:g.15177695C>A			A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.S614I	ENST00000512701.2	37	c.1841	CCDS6477.2	9	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886205	0.51908	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.73152	-0.72;1.36;0.9;0.9;1.36;1.36	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);	0.184331	0.56097	D	0.000021	D	0.83959	0.5367	M	0.74258	2.255	0.80722	D	1	D;D;B;B;D	0.89917	1.0;0.999;0.431;0.431;0.999	D;D;B;B;D	0.80764	0.991;0.979;0.186;0.186;0.994	T	0.83332	-0.0012	9	.	.	.	-7.2372	17.8623	0.88784	0.0:1.0:0.0:0.0	.	545;601;546;548;131	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	I	601;545;548;614;449;449	ENSP00000370231:S601I;ENSP00000297615:S545I;ENSP00000347920:S548I;ENSP00000422496:S614I;ENSP00000426539:S449I;ENSP00000423392:S449I	.	S	-	2	0	TTC39B	15167695	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	3.930000	0.56522	2.761000	0.94854	0.655000	0.94253	AGT	TTC39B	-	smart_TPR_repeat	ENSG00000155158		0.408	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	HGNC	protein_coding	OTTHUMT00000051758.3		0	63	0	C	NM_152574	Missense_Mutation	15177695	-1			no_errors	ENST00000512701	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	A	A	15177695	C	A	15177695	5	1	163	1	0	0	0	0	0	0	1	0	16757	695	24	3	219	3	TTC39B	9	15177695	Splice_Site	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	388766	15177695	126035736	165	41370											
DENND4C	55667	genome.wustl.edu	37	chr9	19324506	19324506	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgatgactgcatagaaaagGtaaaagtttgtacttatact	15	14	8	4	0	0	3	0	2	0	1	0	3	0	3	0	1	3	4	0	1	8	7			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:19324506G>T	ENST00000380432.2	+	9	1278		c.e9+1		DENND4C_ENST00000602925.1_Splice_Site|DENND4C_ENST00000434457.2_Splice_Site			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C						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						CATAGAAAAGGTAAAAGTTTG	0.284																																																	0													74	82	79					9																	19324506		2201	4295	6496	SO:0001630	splice_region_variant	0			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.1245+1G>T	9.37:g.19324506G>T			A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Splice_Site	SNP	-	e12+1	ENST00000380432.2	37	c.1953+1		9	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402449	0.83230	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4075	0.90541	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DENND4C	19314506	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.569000	0.98170	2.656000	0.90262	0.591000	0.81541	.	DENND4C	-	-	ENSG00000137145		0.284	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		-	0	78	0	G	NM_017925	Intron	19324506	1	tier1	-	no_errors	ENST00000602925	ensembl	human	known	74_37	splice_site	7.84	47	4	SNP	1.000	T	T	19324506	G	T	19324506	5	4	163	1	0	0	0	0	0	0	1	0	4449	1275	44	3	1280	3	DENND4C	9	19324506	Splice_Site	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	4146811	19324506	121888925	166	41371											
IFT74	80173	genome.wustl.edu	37	chr9	27062674	27062674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaagaaaaatgtgaccaaGcagattgcagagtacaataa	20	8	8	5	0	0	4	0	1	0	3	0	4	0	4	1	0	3	3	1	0	7	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:27062674G>T	ENST00000443698.1	+	20	1914	c.1743G>T	c.(1741-1743)aaG>aaT	p.K581N	IFT74_ENST00000380062.5_Missense_Mutation_p.K581N|IFT74_ENST00000433700.1_Missense_Mutation_p.K581N	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	581					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)		ATGTGACCAAGCAGATTGCAG	0.383																																																	0													111	102	105					9																	27062674		1876	4109	5985	SO:0001583	missense	0			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.1743G>T	9.37:g.27062674G>T	ENSP00000404122:p.Lys581Asn		Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	NULL	p.K581N	ENST00000443698.1	37	c.1743	CCDS43793.1	9	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718851	0.68844	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	T;T;T	0.34859	1.34;1.34;1.34	6.04	0.577	0.17385	.	0.048722	0.85682	D	0.000000	T	0.43743	0.1261	M	0.65975	2.015	0.51233	D	0.999918	P	0.52316	0.952	P	0.51701	0.677	T	0.38993	-0.9635	10	0.45353	T	0.12	-20.8872	11.0971	0.48152	0.4621:0.0:0.5379:0.0	.	581	Q96LB3	IFT74_HUMAN	N	581	ENSP00000389224:K581N;ENSP00000404122:K581N;ENSP00000369402:K581N	ENSP00000369402:K581N	K	+	3	2	IFT74	27052674	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	0.976000	0.29462	0.170000	0.19704	-0.471000	0.05019	AAG	IFT74	-	NULL	ENSG00000096872		0.383	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT74	HGNC	protein_coding	OTTHUMT00000055476.2	-	0	43	0	G	NM_025103		27062674	1	tier1	-	no_errors	ENST00000380062	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.993	T	T	27062674	G	T	27062674	3	4	163	1	0	0	0	0	1	0	0	0	7590	962	34	3	1886	3	IFT74	9	27062674	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	7738168	27062674	114150757	167	41372											
DNAJA1	3301	genome.wustl.edu	37	chr9	33029944	33029944	+	Frame_Shift_Del	DEL	A	A	-																															ttatataatggtgcaacaagAaaactggctctgcaaaagaa																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:33029944delA	ENST00000330899.4	+	4	555	c.372delA	c.(370-372)agafs	p.R124fs	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	124					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		GTGCAACAAGAAAACTGGCTC	0.318																																																	0													100	101	101					9																	33029944		2203	4299	6502	SO:0001589	frameshift_variant	0			L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"Heat shock proteins / DNAJ (HSP40)"	5229	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 7"	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.372delA	9.37:g.33029944delA	ENSP00000369127:p.Arg124fs		Q5T7Q0|Q86TL9	Frame_Shift_Del	DEL	pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.K125fs	ENST00000330899.4	37	c.372	CCDS6533.1	9																																																																																			DNAJA1	-	pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,pfscan_HSP_DnaJ_Cys-rich_dom	ENSG00000086061		0.318	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA1	HGNC	protein_coding	OTTHUMT00000052031.1		0	61	0	A			33029944	1	tier1		no_errors	ENST00000330899	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	0.900	-	-	33029944	A	-	33029944	7	5	163	1	0	1	0	1	0	0	0	0	4625	243	9	0	382	0	DNAJA1	9	33029944	Frame_Shift_Del	DEL	A	TCGA-VR-A8EQ-01A-11D-A36J-09	5967270	33029944	108183487	168	41373											
KIF24	347240	genome.wustl.edu	37	chr9	34256881	34256881	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cccttacttgggctgcagctGtgatcgagtgctgctcttct	4	14	11	12	1	2	1	0	1	2	0	3	2	2	1	1	1	5	5	1	1	1	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:34256881G>T	ENST00000402558.2	-	10	2748	c.2724C>A	c.(2722-2724)caC>caA	p.H908Q	KIF24_ENST00000379174.3_Missense_Mutation_p.H774Q|KIF24_ENST00000379166.2_Missense_Mutation_p.H908Q|KIF24_ENST00000345050.2_Missense_Mutation_p.H774Q			Q5T7B8	KIF24_HUMAN	kinesin family member 24	908					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)			GGCTGCAGCTGTGATCGAGTG	0.542																																																	0													82	87	85					9																	34256881		2203	4300	6503	SO:0001583	missense	0			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.2724C>A	9.37:g.34256881G>T	ENSP00000384433:p.His908Gln		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H908Q	ENST00000402558.2	37	c.2724	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	G	8.913	0.959262	0.18507	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.97	-8.88	0.00789	.	0.467007	0.18205	N	0.148373	T	0.12732	0.0309	L	0.42245	1.32	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.33803	-0.9854	10	0.13108	T	0.6	.	0.7722	0.01026	0.3902:0.2098:0.1989:0.2011	.	908	Q5T7B8	KIF24_HUMAN	Q	908;774;908;774;908	ENSP00000384433:H908Q;ENSP00000368472:H774Q;ENSP00000368464:H908Q;ENSP00000340179:H774Q	ENSP00000340179:H774Q	H	-	3	2	KIF24	34246881	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-2.855000	0.00729	-1.513000	0.01789	-0.253000	0.11424	CAC	KIF24	-	NULL	ENSG00000186638		0.542	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5		0	32	0	G			34256881	-1			no_errors	ENST00000379166	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.000	T	T	34256881	G	T	34256881	3	4	163	1	0	0	0	0	1	0	0	0	8319	1368	48	3	1394	3	KIF24	9	34256881	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1226937	34256881	106956550	169	41374											
PGM5	5239	genome.wustl.edu	37	chr9	71114230	71114230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccaccctcagactgtacGcagagagctacgagagggat	11	5	14	11	2	1	3	1	0	0	3	1	6	1	4	2	2	3	3	2	2	2	2	rs142216683		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:71114230G>A	ENST00000396396.1	+	10	1796	c.1567G>A	c.(1567-1569)Gca>Aca	p.A523T		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	523					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CAGACTGTACGCAGAGAGCTA	0.572																																																	0													108	96	100					9																	71114230		2203	4300	6503	SO:0001583	missense	0			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1567G>A	9.37:g.71114230G>A	ENSP00000379678:p.Ala523Thr		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.A523T	ENST00000396396.1	37	c.1567	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756873	0.69648	.	.	ENSG00000154330	ENST00000396396	T	0.43688	0.94	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	L	0.41236	1.265	0.53688	D	0.999976	P	0.51351	0.944	P	0.44422	0.449	T	0.41998	-0.9477	10	0.87932	D	0	.	18.5632	0.91108	0.0:0.0:1.0:0.0	.	523	Q15124	PGM5_HUMAN	T	523	ENSP00000379678:A523T	ENSP00000379678:A523T	A	+	1	0	PGM5	70304050	0.981000	0.34729	1.000000	0.80357	0.973000	0.67179	3.531000	0.53546	2.686000	0.91538	0.650000	0.86243	GCA	PGM5	-	NULL	ENSG00000154330		0.572	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	-	0	32	0	G	NM_021965		71114230	1	tier1	-	no_errors	ENST00000396396	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	A	A	71114230	G	A	71114230	3	1	163	1	0	0	0	0	1	0	0	0	11840	1087	38	1	1605	1	PGM5	9	71114230	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	36857349	71114230	70099201	170	41375											
FAM120A	23196	genome.wustl.edu	37	chr9	96324520	96324520	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttatttccaccccagtGattagaacatttggaagagg	12	11	11	7	0	0	3	0	1	0	2	1	5	1	5	3	3	1	1	3	3	4	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:96324520G>T	ENST00000277165.6	+	17	3173	c.2979G>T	c.(2977-2979)gtG>gtT	p.V993V	FAM120A_ENST00000333936.5_Silent_p.V1021V|FAM120A_ENST00000340893.4_Silent_p.V947V	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	993	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						CCACCCCAGTGATTAGAACAT	0.378																																																	0													149	131	137					9																	96324520		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2979G>T	9.37:g.96324520G>T			A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	NULL	p.V1021	ENST00000277165.6	37	c.3063	CCDS6706.1	9																																																																																			FAM120A	-	NULL	ENSG00000048828		0.378	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2	-	0	89	0	G	NM_014612		96324520	1	tier1	-	no_errors	ENST00000333936	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T	T	96324520	G	T	96324520	2	4	163	1	0	0	0	0	0	0	0	1	5434	1277	45	3		3	FAM120A	9	96324520	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	25210290	96324520	44888911	171	41376											
TLR4	7099	genome.wustl.edu	37	chr9	120475211	120475211	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttagaaatgaaggaaacTtggaaaagtttgacaaatct	19	11	8	3	0	1	3	0	2	1	1	1	5	1	5	0	2	1	1	0	2	8	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:120475211T>G	ENST00000355622.6	+	3	906	c.805T>G	c.(805-807)Ttg>Gtg	p.L269V	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L229V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	269					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TGAAGGAAACTTGGAAAAGTT	0.353																																																	0													83	90	88					9																	120475211		2203	4300	6503	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.805T>G	9.37:g.120475211T>G	ENSP00000363089:p.Leu269Val		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L269V	ENST00000355622.6	37	c.805	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534751	0.27475	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.39997	1.37;1.05	5.78	-4.6	0.03390	.	1.079840	0.07012	N	0.825204	T	0.20251	0.0487	N	0.17474	0.49	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.19549	-1.0302	10	0.31617	T	0.26	.	2.2069	0.03938	0.4294:0.195:0.0701:0.3054	.	269	O00206	TLR4_HUMAN	V	229;269	ENSP00000377997:L229V;ENSP00000363089:L269V	ENSP00000363089:L269V	L	+	1	2	TLR4	119515032	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.024000	0.01436	-0.463000	0.06973	-0.302000	0.09304	TTG	TLR4	-	pirsf_Toll-like_receptor	ENSG00000136869		0.353	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	-	0	60	0	T	NM_138554		120475211	1	tier1	-	no_errors	ENST00000355622	ensembl	human	known	74_37	missense	17.50	33	7	SNP	0.000	G	G	120475211	T	G	120475211	3	3	163	1	0	0	0	0	1	0	0	0	16000	1606	56	4	815	4	TLR4	9	120475211	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	24150691	120475211	20738220	172	41377											
OR1N2	138882	genome.wustl.edu	37	chr9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcgtcttctcctatgtccGcattttctgggctgtgtttg	3	18	10	10	2	3	0	0	0	3	0	6	1	4	0	2	1	0	3	2	1	1	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:125316158G>A	ENST00000373688.2	+	1	768	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517																																																	0													252	239	243					9																	125316158		2203	4300	6503	SO:0001583	missense	0				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.710G>A	9.37:g.125316158G>A	ENSP00000362792:p.Arg237His		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R237H	ENST00000373688.2	37	c.710	CCDS35123.1	9	.	.	.	.	.	.	.	.	.	.	G	1.404	-0.577288	0.03854	.	.	ENSG00000171501	ENST00000373688	T	0.00107	8.72	4.56	-0.82	0.10826	GPCR, rhodopsin-like superfamily (1);	0.976894	0.08366	N	0.956924	T	0.00109	0.0003	N	0.17594	0.5	0.09310	N	1	B	0.16396	0.017	B	0.20184	0.028	T	0.01225	-1.1413	10	0.28530	T	0.3	.	4.6663	0.12668	0.5603:0.0:0.2724:0.1672	.	237	Q8NGR9	OR1N2_HUMAN	H	237	ENSP00000362792:R237H	ENSP00000362792:R237H	R	+	2	0	OR1N2	124355979	0.000000	0.05858	0.004000	0.12327	0.987000	0.75469	-2.545000	0.00933	-0.028000	0.13850	0.644000	0.83932	CGC	OR1N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171501		0.517	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N2	HGNC	protein_coding	OTTHUMT00000053937.2	-	0	26	0	G			125316158	1	tier1	-	no_errors	ENST00000373688	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.000	A	A	125316158	G	A	125316158	3	1	163	1	0	0	0	0	1	0	0	0	11009	1087	38	1	712	1	OR1N2	9	125316158	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	4840947	125316158	15897273	173	41378											
OR1L4	254973	genome.wustl.edu	37	chr9	125486279	125486279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccagagacatggagacaaAgaattatagcagcagcacct	16	6	10	9	0	0	3	0	0	0	3	1	5	1	3	2	1	3	3	2	1	4	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:125486279A>G	ENST00000259466.1	+	1	11	c.11A>G	c.(10-12)aAg>aGg	p.K4R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ATGGAGACAAAGAATTATAGC	0.478																																																	0													143	139	140					9																	125486279		2203	4300	6503	SO:0001583	missense	0				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.11A>G	9.37:g.125486279A>G	ENSP00000259466:p.Lys4Arg		Q6IFN0|Q96R81	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K4R	ENST00000259466.1	37	c.11	CCDS35129.1	9	.	.	.	.	.	.	.	.	.	.	a	1.778	-0.482583	0.04383	.	.	ENSG00000136939	ENST00000259466	T	0.00374	7.72	3.94	1.47	0.22746	.	1.638690	0.03490	N	0.216383	T	0.00144	0.0004	N	0.03177	-0.4	0.09310	N	1	B	0.28713	0.22	B	0.24541	0.054	T	0.24261	-1.0165	10	0.11794	T	0.64	-2.6954	6.1171	0.20132	0.6685:0.0:0.3315:0.0	.	4	Q8NGR5	OR1L4_HUMAN	R	4	ENSP00000259466:K4R	ENSP00000259466:K4R	K	+	2	0	OR1L4	124526100	0.000000	0.05858	0.012000	0.15200	0.039000	0.13416	0.335000	0.19806	0.104000	0.17725	0.254000	0.18369	AAG	OR1L4	-	NULL	ENSG00000136939		0.478	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L4	HGNC	protein_coding	OTTHUMT00000053951.1	-	0	66	0	A			125486279	1	tier1	-	no_errors	ENST00000259466	ensembl	human	known	74_37	missense	17.57	61	13	SNP	0.026	G	G	125486279	A	G	125486279	3	3	163	1	0	0	0	0	1	0	0	0	11004	72	3	4	13	4	OR1L4	9	125486279	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	170121	125486279	15727152	174	41379											
OR1L6	392390	genome.wustl.edu	37	chr9	125512401	125512401	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctatcagagacaaaggTtatctcctatgtgggctgcc	9	14	9	9	0	3	1	1	0	2	1	4	2	3	1	2	2	1	2	2	2	4	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:125512401T>G	ENST00000373684.1	+	1	383	c.383T>G	c.(382-384)gTt>gGt	p.V128G	OR1L6_ENST00000304720.2_Missense_Mutation_p.V92G			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GAGACAAAGGTTATCTCCTAT	0.468																																																	0													124	115	118					9																	125512401		2203	4300	6503	SO:0001583	missense	0				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"GPCR / Class A : Olfactory receptors"	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.383T>G	9.37:g.125512401T>G	ENSP00000362788:p.Val128Gly		Q6IFM8|Q96R80	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V128G	ENST00000373684.1	37	c.383		9	.	.	.	.	.	.	.	.	.	.	.	0.786	-0.760633	0.02996	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.01998	4.51;4.51	4.06	0.0532	0.14305	GPCR, rhodopsin-like superfamily (1);	1.445290	0.04270	N	0.341889	T	0.01835	0.0058	L	0.28344	0.845	0.09310	N	1	B	0.28233	0.204	B	0.24701	0.055	T	0.46428	-0.9192	10	0.28530	T	0.3	0.0814	0.9037	0.01280	0.1601:0.2997:0.1563:0.3839	.	128	Q8NGR2	OR1L6_HUMAN	G	128;92	ENSP00000362788:V128G;ENSP00000304235:V92G	ENSP00000304235:V92G	V	+	2	0	OR1L6	124552222	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-2.752000	0.00791	0.011000	0.14865	-0.242000	0.12053	GTT	OR1L6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171459		0.468	OR1L6-201	KNOWN	basic	protein_coding	OR1L6	HGNC	protein_coding		-	0	63	0	T			125512401	1	tier1	-	no_errors	ENST00000373684	ensembl	human	known	74_37	missense	39.39	40	26	SNP	0.003	G	G	125512401	T	G	125512401	3	3	163	1	0	0	0	0	1	0	0	0	11005	1725	60	4	277	4	OR1L6	9	125512401	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	26122	125512401	15701030	175	41380											
SET	6418	genome.wustl.edu	37	chr9	131455936	131455936	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggatttgacgaaacgttcgaGtcaaacgcagaataaagcca	16	7	10	8	4	1	2	1	1	0	1	2	5	1	3	1	1	3	2	1	1	5	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:131455936G>T	ENST00000372692.4	+	6	792	c.551G>T	c.(550-552)aGt>aTt	p.S184I	SET_ENST00000477806.1_3'UTR|SET_ENST00000372688.4_Missense_Mutation_p.S160I|SET_ENST00000322030.8_Missense_Mutation_p.S171I|SET_ENST00000409104.3_Missense_Mutation_p.S162I	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	184	Earmuff domain.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AAACGTTCGAGTCAAACGCAG	0.408			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0													39	35	37					9																	131455936		2203	4300	6503	SO:0001583	missense	0			M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"protein phosphatase type 2A inhibitor", "Template-Activating Factor-I, chromatin remodelling factor"	600960	"SET translocation (myeloid leukemia-associated)"			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.551G>T	9.37:g.131455936G>T	ENSP00000361777:p.Ser184Ile		A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP	pfam_NAP_family	p.S184I	ENST00000372692.4	37	c.551	CCDS48037.1	9	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582688	0.86748	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.24151	1.87;3.12;1.87;3.12;3.12	5.41	5.41	0.78517	.	0.038813	0.85682	D	0.000000	T	0.33294	0.0858	L	0.37697	1.125	0.58432	D	0.999999	B;B;P	0.44380	0.372;0.321;0.834	B;B;P	0.49421	0.215;0.205;0.61	T	0.02251	-1.1188	10	0.51188	T	0.08	.	18.1692	0.89739	0.0:0.0:1.0:0.0	.	160;171;184	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	I	184;162;171;160;159	ENSP00000361777:S184I;ENSP00000387321:S162I;ENSP00000318012:S171I;ENSP00000361773:S160I;ENSP00000361771:S159I	ENSP00000318012:S171I	S	+	2	0	SET	130495757	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.849000	0.92178	2.538000	0.85594	0.555000	0.69702	AGT	SET	-	pfam_NAP_family	ENSG00000119335		0.408	SET-001	KNOWN	basic|CCDS	protein_coding	SET	HGNC	protein_coding	OTTHUMT00000054476.2		0	50	0	G	NM_001122821		131455936	1			no_errors	ENST00000372692	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	131455936	G	T	131455936	3	4	163	1	0	0	0	0	1	0	0	0	14173	1029	36	3	650	3	SET	9	131455936	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	5943535	131455936	9757495	176	41381											
SARDH	1757	genome.wustl.edu	37	chr9	136536709	136536709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctgcgttgatgaggccGtgcttggcacccgcggccat	5	9	13	14	4	0	2	0	2	0	0	0	2	0	2	4	3	3	3	4	3	1	3	rs371772872		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:136536709G>A	ENST00000371872.4	-	18	2531	c.2274C>T	c.(2272-2274)caC>caT	p.H758H	SARDH_ENST00000371868.1_Silent_p.H186H|SARDH_ENST00000439388.1_Silent_p.H758H|SARDH_ENST00000422262.2_Silent_p.H590H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	758					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)		TGATGAGGCCGTGCTTGGCAC	0.672																																																	0													46	35	39					9																	136536709		2198	4293	6491	SO:0001819	synonymous_variant	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2274C>T	9.37:g.136536709G>A			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.H758	ENST00000371872.4	37	c.2274	CCDS6978.1	9																																																																																			SARDH	-	pfam_GCV_T_N	ENSG00000123453		0.672	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	-	0	90	0	G			136536709	-1	tier1	-	no_errors	ENST00000371872	ensembl	human	known	74_37	silent	16.92	54	11	SNP	0.964	A	A	136536709	G	A	136536709	2	1	163	1	0	0	0	0	0	0	0	1	13886	1136	40	1		1	SARDH	9	136536709	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	5080773	136536709	4676722	177	41382											
DNLZ	728489	genome.wustl.edu	37	chr9	139256519	139256519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcctcacccgcttccGgagctgcagtggatgtgggg	5	9	13	14	2	2	0	2	0	0	0	4	2	4	2	4	4	2	3	4	4	0	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:139256519G>A	ENST00000371738.3	-	3	556	c.482C>T	c.(481-483)cCg>cTg	p.P161L	DNLZ_ENST00000371739.3_Silent_p.S114S|CARD9_ENST00000460290.1_5'Flank	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	161						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		ACCCGCTTCCGGAGCTGCAGT	0.692																																																	0													14	18	17					9																	139256519		2191	4296	6487	SO:0001583	missense	0			AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"Zinc fingers"	33879	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 15 homolog (yeast)", "HSP70 escort protein"		"chromosome 9 open reading frame 151"	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.482C>T	9.37:g.139256519G>A	ENSP00000360803:p.Pro161Leu		B2RUX5|B9EJE1	Missense_Mutation	SNP	pfam_Znf_DNL-typ	p.P161L	ENST00000371738.3	37	c.482	CCDS35179.1	9	.	.	.	.	.	.	.	.	.	.	G	9.069	0.996313	0.19043	.	.	ENSG00000213221	ENST00000371738	T	0.30714	1.52	3.49	-3.14	0.05250	Zinc finger, DNL-type (1);	0.345575	0.17891	U	0.158536	T	0.15869	0.0382	L	0.29908	0.895	0.09310	N	1	B	0.17852	0.024	B	0.06405	0.002	T	0.08186	-1.0734	10	0.46703	T	0.11	0.1753	4.2269	0.10584	0.3871:0.0:0.3695:0.2434	.	161	Q5SXM8	DNLZ_HUMAN	L	161	ENSP00000360803:P161L	ENSP00000360803:P161L	P	-	2	0	DNLZ	138376340	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.273000	0.08548	-0.734000	0.04843	-0.339000	0.08088	CCG	DNLZ	-	NULL	ENSG00000213221		0.692	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNLZ	HGNC	protein_coding	OTTHUMT00000055075.2	-	0	54	0	G	NM_001080849		139256519	-1	tier1	-	no_errors	ENST00000371738	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.000	A	A	139256519	G	A	139256519	3	1	163	1	0	0	0	0	1	0	0	0	4683	1116	39	1	58	1	DNLZ	9	139256519	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2719810	139256519	1956912	178	41383											
NOTCH1	4851	genome.wustl.edu	37	chr9	139391546	139391546	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ggggagggcagcagtggcggCgaggccacgtctgacaggta	8	4	20	9	3	1	1	0	1	1	0	1	3	1	2	1	7	1	3	1	7	1	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:139391546C>T	ENST00000277541.6	-	34	6720	c.6645G>A	c.(6643-6645)tcG>tcA	p.S2215S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2215					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K2182fs*61(1)|p.S2163_T2283del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGTGGCGGCGAGGCCACGT	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	2	Deletion - Frameshift(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(2)											31	40	37					9																	139391546		2170	4247	6417	SO:0001819	synonymous_variant	0			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.6645G>A	9.37:g.139391546C>T			Q59ED8|Q5SXM3	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.S2215	ENST00000277541.6	37	c.6645	CCDS43905.1	9																																																																																			NOTCH1	-	pirsf_Notch,prints_Notch_1	ENSG00000148400		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	39	0	C	NM_017617		139391546	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	silent	33.33	28	14	SNP	0.044	T	T	139391546	C	T	139391546	2	4	163	1	0	0	0	0	0	0	0	1	10586	755	27	1		1	NOTCH1	9	139391546	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	135027	139391546	1821885	179	41384											
NOTCH1	4851	genome.wustl.edu	37	chr9	139412280	139412280	+	Silent	SNP	C	C	T	0	0	0	1	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	tggcacgggttcgagacgcaCtcgttgacgtcgatctcgca	7	9	13	12	7	1	2	0	1	1	1	5	4	1	2	0	2	0	5	0	2	0	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:139412280C>T	ENST00000277541.6	-	8	1440	c.1365G>A	c.(1363-1365)gaG>gaA	p.E455E	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	455	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGAGACGCACTCGTTGACGT	0.667			"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													58	65	63					9																	139412280		2178	4262	6440	SO:0001819	synonymous_variant	0			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.1365G>A	9.37:g.139412280C>T			Q59ED8|Q5SXM3	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E455	ENST00000277541.6	37	c.1365	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	54	0	C	NM_017617		139412280	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	silent	38.46	15	10	SNP	1.000	T	T	139412280	C	T	139412280	2	4	163	1	0	0	0	0	0	0	0	1	10586	564	20	3		3	NOTCH1	9	139412280	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	20734	139412280	1801151	180	41385											
PNPLA7	375775	genome.wustl.edu	37	chr9	140355171	140355171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcctcctcgtactccGtctggtagtcagattcgtct	5	13	9	14	3	3	1	1	0	2	1	8	1	6	1	3	1	2	4	3	1	2	3	rs145220396		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:140355171G>A	ENST00000277531.4	-	33	3971	c.3785C>T	c.(3784-3786)aCg>aTg	p.T1262M	PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000392812.4_5'Flank|PNPLA7_ENST00000406427.1_Missense_Mutation_p.T1287M|PNPLA7_ENST00000371457.1_Missense_Mutation_p.T868M|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000371472.2_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1262					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)		CTCGTACTCCGTCTGGTAGTC	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		20076	0		0	False		,,,				2504	0																0													88	70	76					9																	140355171		2202	4300	6502	SO:0001583	missense	0			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.3785C>T	9.37:g.140355171G>A	ENSP00000277531:p.Thr1262Met		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.T1287M	ENST00000277531.4	37	c.3860	CCDS7045.1	9	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988825	0.53934	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.72394	-0.65;3.27;0.12;0.11;0.12	4.14	3.18	0.36537	.	0.120379	0.56097	D	0.000038	T	0.80929	0.4718	M	0.79475	2.455	0.48830	D	0.999714	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;P	0.71414	0.973;0.972;0.97;0.879	T	0.82104	-0.0622	10	0.66056	D	0.02	-16.5702	9.1838	0.37158	0.0:0.0:0.7846:0.2154	.	670;1287;1262;509	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	M	868;670;1262;1287;1199;1253	ENSP00000360512:T868M;ENSP00000360501:T670M;ENSP00000277531:T1262M;ENSP00000384610:T1287M;ENSP00000400582:T1253M	ENSP00000277531:T1262M	T	-	2	0	PNPLA7	139474992	1.000000	0.71417	0.849000	0.33467	0.325000	0.28411	3.178000	0.50879	1.845000	0.53610	0.563000	0.77884	ACG	PNPLA7	-	NULL	ENSG00000130653		0.622	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1	-	0	27	0	G	NM_152286		140355171	-1	tier1	-	no_errors	ENST00000406427	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.985	A	A	140355171	G	A	140355171	3	1	163	1	0	0	0	0	1	0	0	0	12209	1145	40	1	176	1	PNPLA7	9	140355171	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	942891	140355171	858260	181	41386											
EHMT1	79813	genome.wustl.edu	37	chr9	140611616	140611616	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcacgcaagaccatgccGaagtccgtcgtgggcctggt	8	6	15	12	4	0	1	0	0	0	1	2	2	1	1	4	3	1	2	4	3	2	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr9:140611616G>A	ENST00000460843.1	+	3	651	c.624G>A	c.(622-624)ccG>ccA	p.P208P	EHMT1_ENST00000462484.1_Silent_p.P208P|EHMT1_ENST00000334856.6_Silent_p.P177P|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	208					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGACCATGCCGAAGTCCGTCG	0.552																																																	0													24	27	26					9																	140611616		2134	4142	6276	SO:0001819	synonymous_variant	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.624G>A	9.37:g.140611616G>A			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.P208	ENST00000460843.1	37	c.624	CCDS7050.2	9																																																																																			EHMT1	-	NULL	ENSG00000181090		0.552	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2		0	45	0	G	NM_024757		140611616	1			no_errors	ENST00000460843	ensembl	human	known	74_37	silent	5.26	35	2	SNP	0.684	A	A	140611616	G	A	140611616	2	1	163	1	0	0	0	0	0	0	0	1	4997	1045	37	1		1	EHMT1	9	140611616	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	256445	140611616	601815	182	41387											
PFKFB3	5209	genome.wustl.edu	37	chr10	6258137	6258137	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaagctacctggcgaaaGaagggggacaaattgcggta	15	6	13	7	2	1	1	1	0	0	1	1	3	1	2	1	4	3	2	1	4	7	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr10:6258137G>T	ENST00000379775.4	+	4	679	c.349G>T	c.(349-351)Gaa>Taa	p.E117*	PFKFB3_ENST00000536985.1_Nonsense_Mutation_p.E97*|PFKFB3_ENST00000360521.2_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000317350.4_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000540253.1_Nonsense_Mutation_p.E131*|PFKFB3_ENST00000379782.3_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000379785.1_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000379789.4_Nonsense_Mutation_p.E97*	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	117	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						CCTGGCGAAAGAAGGGGGACA	0.587																																																	0													157	130	139					10																	6258137		2203	4300	6503	SO:0001587	stop_gained	0				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.349G>T	10.37:g.6258137G>T	ENSP00000369100:p.Glu117*		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Nonsense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.E131*	ENST00000379775.4	37	c.391	CCDS7078.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.176369	0.94846	.	.	ENSG00000170525	ENST00000536985;ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	0.2543	18.7928	0.91982	0.0:0.0:1.0:0.0	.	.	.	.	X	97;97;131;117;117;117;117;117;117	.	ENSP00000369105:E117X	E	+	1	0	PFKFB3	6298143	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	7.559000	0.82265	2.428000	0.82296	0.591000	0.81541	GAA	PFKFB3	-	pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase	ENSG00000170525		0.587	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PFKFB3	HGNC	protein_coding	OTTHUMT00000046647.1		0	71	0	G			6258137	1			no_errors	ENST00000540253	ensembl	human	known	74_37	nonsense	8.57	32	3	SNP	1.000	T	T	6258137	G	T	6258137	4	4	163	1	0	0	0	0	0	1	0	0	11801	943	33	3	383	3	PFKFB3	10	6258137	Nonsense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		6258137	129276610	183	41388											
PFKFB3	5209	genome.wustl.edu	37	chr10	6261588	6261588	+	Silent	SNP	C	C	T	0	0	0	1	1	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	aactcggcagaagccatggaCgacttcatgaagaggatcag	14	6	12	9	2	2	3	2	1	0	2	3	6	2	5	1	3	2	1	1	3	3	1	rs545085751		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr10:6261588C>T	ENST00000379775.4	+	7	885	c.555C>T	c.(553-555)gaC>gaT	p.D185D	PFKFB3_ENST00000536985.1_Missense_Mutation_p.T182M|PFKFB3_ENST00000360521.2_Silent_p.D185D|PFKFB3_ENST00000317350.4_Silent_p.D185D|PFKFB3_ENST00000540253.1_Silent_p.D199D|PFKFB3_ENST00000379782.3_Silent_p.D185D|PFKFB3_ENST00000379785.1_Silent_p.D185D|PFKFB3_ENST00000379789.4_Silent_p.D165D	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	185	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						AAGCCATGGACGACTTCATGA	0.542													C|||	1	0.000199681	0	0	5008	,	,		16671	0		0	False		,,,				2504	0.001																0													95	91	92					10																	6261588		2203	4300	6503	SO:0001819	synonymous_variant	0				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.555C>T	10.37:g.6261588C>T			B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,prints_6Pfruct_kin	p.T182M	ENST00000379775.4	37	c.545	CCDS7078.1	10	.	.	.	.	.	.	.	.	.	.	C	14.10	2.436033	0.43224	.	.	ENSG00000170525	ENST00000536985	.	.	.	5.37	-4.97	0.03029	.	.	.	.	.	T	0.52175	0.1718	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58951	-0.7545	5	0.72032	D	0.01	-7.6616	3.3675	0.07208	0.2318:0.2614:0.3771:0.1297	.	.	.	.	M	182	.	ENSP00000443319:T182M	T	+	2	0	PFKFB3	6301594	0.931000	0.31567	0.971000	0.41717	0.589000	0.36550	0.046000	0.14035	-0.575000	0.05982	-0.964000	0.02622	ACG	PFKFB3	-	NULL	ENSG00000170525		0.542	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PFKFB3	HGNC	protein_coding	OTTHUMT00000046647.1	-	0	68	0	C			6261588	1	tier1	-	no_errors	ENST00000536985	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.938	T	T	6261588	C	T	6261588	2	4	163	1	0	0	0	0	0	0	0	1	11801	535	19	1		1	PFKFB3	10	6261588	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	3451	6261588	129273159	184	41389											
FAM171A1	221061	genome.wustl.edu	37	chr10	15325921	15325921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcagagtttggcacgtagGcatgcttcgaggcggtgaca	8	8	17	8	3	0	2	0	1	0	1	1	3	0	2	0	5	1	6	0	5	1	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr10:15325921G>A	ENST00000378116.4	-	2	287	c.281C>T	c.(280-282)gCc>gTc	p.A94V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	94						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						TGGCACGTAGGCATGCTTCGA	0.552																																																	0													115	94	102					10																	15325921		2203	4300	6503	SO:0001583	missense	0			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.281C>T	10.37:g.15325921G>A	ENSP00000367356:p.Ala94Val		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.A94V	ENST00000378116.4	37	c.281	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187499	0.78789	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.34275	1.37;1.37	5.07	4.14	0.48551	.	0.110151	0.64402	D	0.000008	T	0.53400	0.1794	L	0.51422	1.61	0.50313	D	0.99986	D	0.71674	0.998	D	0.69307	0.963	T	0.58244	-0.7670	10	0.87932	D	0	-21.0077	15.6906	0.77450	0.0:0.1375:0.8625:0.0	.	94	Q5VUB5	F1711_HUMAN	V	94;94;95;94	ENSP00000367356:A94V;ENSP00000407796:A94V	ENSP00000367354:A94V	A	-	2	0	FAM171A1	15365927	1.000000	0.71417	0.978000	0.43139	0.803000	0.45373	5.690000	0.68241	1.219000	0.43474	0.591000	0.81541	GCC	FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.552	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1		0	45	0	G	XM_167709		15325921	-1			no_errors	ENST00000378116	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	A	A	15325921	G	A	15325921	3	1	163	1	0	0	0	0	1	0	0	0	5509	1203	42	3	2419	3	FAM171A1	10	15325921	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	9064333	15325921	120208826	185	41390											
C10orf140	387640	genome.wustl.edu	37	chr10	21804409	21804409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcccagtactagtgtccgGtaattttttctcaccctggc	6	16	7	12	1	1	0	1	0	1	0	4	0	3	0	3	2	1	2	3	2	3	7			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr10:21804409G>A	ENST00000449193.2	-	4	4595	c.2343C>T	c.(2341-2343)taC>taT	p.Y781Y	SKIDA1_ENST00000444772.3_Silent_p.Y702Y	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	700						nucleus (GO:0005634)											CTAGTGTCCGGTAATTTTTTC	0.453																																																	0													128	115	119					10																	21804409		1834	4081	5915	SO:0001819	synonymous_variant	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2343C>T	10.37:g.21804409G>A			B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.Y781	ENST00000449193.2	37	c.2343	CCDS44363.1	10																																																																																			SKIDA1	-	NULL	ENSG00000180592		0.453	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2		0	63	0	G	NM_207371		21804409	-1			no_errors	ENST00000449193	ensembl	human	known	74_37	silent	5.66	50	3	SNP	1.000	A	A	21804409	G	A	21804409	2	1	163	1	0	0	0	0	0	0	0	1	1600	1256	44	3		3	C10orf140	10	21804409	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	6478488	21804409	113730338	186	41391											
C10orf140	387640	genome.wustl.edu	37	chr10	21806551	21806551	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgctgttaattgccttGagtttccgcaactcctccag	7	13	9	12	2	0	1	0	1	0	0	3	2	3	1	4	0	3	4	4	0	2	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr10:21806551G>T	ENST00000449193.2	-	4	2453	c.201C>A	c.(199-201)ctC>ctA	p.L67L	SKIDA1_ENST00000444772.3_Silent_p.L67L|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	67						nucleus (GO:0005634)											TAATTGCCTTGAGTTTCCGCA	0.557																																																	0													85	85	85					10																	21806551		2132	4238	6370	SO:0001819	synonymous_variant	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.201C>A	10.37:g.21806551G>T			B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.L67	ENST00000449193.2	37	c.201	CCDS44363.1	10																																																																																			SKIDA1	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	ENSG00000180592		0.557	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	-	0	41	0	G	NM_207371		21806551	-1	tier1	-	no_errors	ENST00000449193	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T	T	21806551	G	T	21806551	2	4	163	1	0	0	0	0	0	0	0	1	1600	1277	45	3		3	C10orf140	10	21806551	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2142	21806551	113728196	187	41392											
SPAG6	9576	genome.wustl.edu	37	chr10	22675815	22675815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagcattctccagagttagCacagacagtagtggatgcag	14	8	11	8	0	1	2	0	0	1	2	2	3	1	3	1	1	3	5	1	1	3	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr10:22675815C>T	ENST00000376624.3	+	5	747	c.605C>T	c.(604-606)gCa>gTa	p.A202V	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.A177V|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376603.2_Missense_Mutation_p.A278V|SPAG6_ENST00000313311.6_Missense_Mutation_p.A202V	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	202					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						CCAGAGTTAGCACAGACAGTA	0.423																																																	0													112	106	108					10																	22675815		2203	4300	6503	SO:0001583	missense	0			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.605C>T	10.37:g.22675815C>T	ENSP00000365811:p.Ala202Val		A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.A278V	ENST00000376624.3	37	c.833	CCDS7139.1	10	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980249	0.53827	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.6	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.046053	0.85682	N	0.000000	D	0.84032	0.5383	M	0.88241	2.94	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;0.994;0.998;0.999	D	0.87380	0.2356	10	0.72032	D	0.01	-20.0511	14.7982	0.69894	0.0:0.9307:0.0:0.0693	.	177;278;202;202	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	V	202;278;177;202	ENSP00000365811:A202V;ENSP00000365788:A278V;ENSP00000441325:A177V;ENSP00000323599:A202V	ENSP00000323599:A202V	A	+	2	0	SPAG6	22715821	1.000000	0.71417	0.718000	0.30602	0.067000	0.16453	5.971000	0.70440	1.509000	0.48786	-0.253000	0.11424	GCA	SPAG6	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000077327		0.423	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1	-	0	60	0	C			22675815	1	tier1	-	no_errors	ENST00000376603	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	22675815	C	T	22675815	3	4	163	1	0	0	0	0	1	0	0	0	15029	710	25	3	623	3	SPAG6	10	22675815	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	869264	22675815	112858932	188	41393											
ZNF248	57209	genome.wustl.edu	37	chr10	38121298	38121298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ttcccaggttttgtcactcaCtttatattcacggagaatct	9	16	6	10	1	4	1	3	0	1	1	5	2	5	1	1	2	0	1	1	2	3	7	rs74723700		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr10:38121298C>T	ENST00000395867.3	-	6	1535	c.985G>A	c.(985-987)Gtg>Atg	p.V329M	AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.V329M|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTGTCACTCACTTTATATTCA	0.358																																																	0													107	106	106					10																	38121298		2203	4300	6503	SO:0001583	missense	0			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"Zinc fingers, C2H2-type", "-"	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.985G>A	10.37:g.38121298C>T	ENSP00000379208:p.Val329Met		Q8NDV8|Q9UMP3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V329M	ENST00000395867.3	37	c.985	CCDS7194.1	10	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055045	0.36277	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.04917	3.53;3.53	4.61	2.62	0.31277	.	0.159466	0.29783	N	0.011210	T	0.07007	0.0178	L	0.41961	1.31	0.29635	N	0.845135	P	0.45902	0.868	B	0.43052	0.406	T	0.09207	-1.0685	10	0.87932	D	0	.	7.375	0.26823	0.1926:0.6212:0.1861:0.0	.	329	Q8NDW4	ZN248_HUMAN	M	329	ENSP00000379208:V329M;ENSP00000349882:V329M	ENSP00000349882:V329M	V	-	1	0	ZNF248	38161304	0.000000	0.05858	0.998000	0.56505	0.810000	0.45777	0.042000	0.13949	0.593000	0.29745	0.563000	0.77884	GTG	ZNF248	-	NULL	ENSG00000198105		0.358	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF248	HGNC	protein_coding	OTTHUMT00000047609.1	-	0	54	0	C	NM_021045		38121298	-1	tier1	-	no_errors	ENST00000357328	ensembl	human	known	74_37	missense	17.39	57	12	SNP	0.996	T	T	38121298	C	T	38121298	3	4	163	1	0	0	0	0	1	0	0	0	17841	565	20	3	758	3	ZNF248	10	38121298	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	15445483	38121298	97413449	189	41394											
AGAP6	414189	genome.wustl.edu	37	chr10	51769578	51769578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacgagggaagagaaggaaCggtggatccgttccaaatat	14	6	13	8	3	0	1	0	0	0	1	2	6	2	4	3	4	1	1	3	4	5	2	rs527558369	byFrequency	TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr10:51769578C>T	ENST00000374056.4	+	7	2022	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	AGAP6_ENST00000412531.3_Missense_Mutation_p.R565W			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	542	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AGAGAAGGAACGGTGGATCCG	0.557													.|||	2	0.000399361	0	0	5008	,	,		24462	0		0	False		,,,				2504	0.002																0																																										SO:0001583	missense	0				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1624C>T	10.37:g.51769578C>T	ENSP00000363168:p.Arg542Trp			Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R542W	ENST00000374056.4	37	c.1624		10	.	.	.	.	.	.	.	.	.	.	.	9.574	1.121885	0.20877	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.299915	0.36854	N	0.002361	T	0.60856	0.2301	M	0.91196	3.185	0.54753	D	0.999989	B	0.30889	0.299	B	0.24269	0.052	T	0.56968	-0.7891	9	0.49607	T	0.09	.	5.9248	0.19104	0.0:0.9993:0.0:7.0E-4	.	565	C9IYN2	.	W	565;542	.	ENSP00000363168:R565W	R	+	1	2	AGAP6	51439584	1.000000	0.71417	0.104000	0.21259	0.105000	0.19272	1.974000	0.40559	0.132000	0.18615	0.134000	0.15878	CGG	AGAP6	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP	ENSG00000204149		0.557	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	AGAP6	HGNC	protein_coding		-	0	135	0	C	NM_001077665		51769578	1	tier1	-	no_errors	ENST00000374056	ensembl	human	known	74_37	missense	13.28	111	17	SNP	1.000	T	T	51769578	C	T	51769578	3	4	163	1	0	0	0	0	1	0	0	0	372	527	19	1	1723	1	AGAP6	10	51769578	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	13648280	51769578	83765169	190	41395											
SIRT1	23411	genome.wustl.edu	37	chr10	69676139	69676139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcagtaacagtgatagtgGgacatgccagagtccaagtt	12	9	13	7	0	0	2	0	1	0	1	1	3	1	3	2	2	2	3	2	2	3	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr10:69676139G>A	ENST00000212015.6	+	9	2086	c.2033G>A	c.(2032-2034)gGg>gAg	p.G678E	SIRT1_ENST00000432464.1_Missense_Mutation_p.G383E|SIRT1_ENST00000406900.1_Missense_Mutation_p.G375E|SIRT1_ENST00000403579.1_Missense_Mutation_p.G375E	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	678					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						AGTGATAGTGGGACATGCCAG	0.428																																																	0													123	112	116					10																	69676139		2203	4300	6503	SO:0001583	missense	0			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.2033G>A	10.37:g.69676139G>A	ENSP00000212015:p.Gly678Glu		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.G678E	ENST00000212015.6	37	c.2033	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954768	0.73902	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.98	5.98	0.97165	.	0.192997	0.45126	D	0.000386	T	0.54127	0.1839	L	0.40543	1.245	0.49483	D	0.99979	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.45220	-0.9276	10	0.35671	T	0.21	-16.4748	13.3011	0.60326	0.0725:0.0:0.9275:0.0	.	375;678	B0QZ35;Q96EB6	.;SIRT1_HUMAN	E	678;383;375;375	ENSP00000212015:G678E;ENSP00000409208:G383E;ENSP00000384508:G375E;ENSP00000384063:G375E	ENSP00000212015:G678E	G	+	2	0	SIRT1	69346145	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.545000	0.60698	2.835000	0.97688	0.650000	0.86243	GGG	SIRT1	-	NULL	ENSG00000096717		0.428	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1	-	0	77	0	G			69676139	1	tier1	-	no_errors	ENST00000212015	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	69676139	G	A	69676139	3	1	163	1	0	0	0	0	1	0	0	0	14382	1232	43	3	2067	3	SIRT1	10	69676139	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	17906561	69676139	65858608	191	41396											
PDZD8	118987	genome.wustl.edu	37	chr10	119043842	119043842	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtaactacatggtggtctGattctccttctttcaaatat	10	17	6	8	0	4	1	1	1	3	0	5	1	4	1	1	2	2	1	1	2	5	7			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr10:119043842G>T	ENST00000334464.5	-	5	2641	c.2402C>A	c.(2401-2403)tCa>tAa	p.S801*	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	801					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)		ATGGTGGTCTGATTCTCCTTC	0.373																																																	0													68	68	68					10																	119043842		2203	4300	6503	SO:0001587	stop_gained	0			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.2402C>A	10.37:g.119043842G>T	ENSP00000334642:p.Ser801*		Q86WE0|Q86WE5|Q9UFF1	Nonsense_Mutation	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.S801*	ENST00000334464.5	37	c.2402	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115052	0.56505	.	.	ENSG00000165650	ENST00000334464	.	.	.	5.62	3.58	0.41010	.	1.245700	0.05096	N	0.486049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	1.1047	9.0758	0.36519	0.1547:0.0:0.7128:0.1325	.	.	.	.	X	801	.	ENSP00000334642:S801X	S	-	2	0	PDZD8	119033832	0.001000	0.12720	0.975000	0.42487	0.986000	0.74619	0.971000	0.29396	1.377000	0.46286	0.563000	0.77884	TCA	PDZD8	-	NULL	ENSG00000165650		0.373	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1	-	0	25	0	G	NM_173791		119043842	-1	tier1	-	no_errors	ENST00000334464	ensembl	human	known	74_37	nonsense	18.18	18	4	SNP	0.000	T	T	119043842	G	T	119043842	4	4	163	1	0	0	0	0	0	1	0	0	11744	1294	45	3	1066	3	PDZD8	10	119043842	Nonsense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	49367703	119043842	16490905	192	41397											
MKI67	4288	genome.wustl.edu	37	chr10	129905112	129905113	+	Frame_Shift_Del	DEL	TG	TG	-																															ttaccatctcctgttggctcTgtgtgtgtgtgtgtagtctc																								rs145960091		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr10:129905112_129905113delTG	ENST00000368654.3	-	13	5366_5367	c.4991_4992delCA	c.(4990-4992)acafs	p.T1664fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.T1304fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1664	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)				CTGTTGGCTCTGTGTGTGTGTG	0.51																																																	0																																										SO:0001589	frameshift_variant	0			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.4991_4992delCA	10.37:g.129905122_129905123delTG	ENSP00000357643:p.Thr1664fs		Q5VWH2	Frame_Shift_Del	DEL	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.T1664fs	ENST00000368654.3	37	c.4992_4991	CCDS7659.1	10																																																																																			MKI67	-	pfam_K167R	ENSG00000148773		0.51	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1		0	60	0	TG	NM_002417		129905113	-1	tier1		no_errors	ENST00000368654	ensembl	human	known	74_37	frame_shift_del	10.16	115	13	DEL	0.000:0.000	-	-	129905113	TG	-	129905112	7	5	163	1	0	1	0	1	0	0	0	0	9636	1567	55	0	4790	0	MKI67	10	129905112	Frame_Shift_Del	DEL	TG	TCGA-VR-A8EQ-01A-11D-A36J-09	10861270	129905112	5629635	193	41398											
TRPM5	29850	genome.wustl.edu	37	chr11	2428371	2428371	+	Silent	SNP	A	A	G	1	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	aggtgctcccgcttgtgctcAgcctccttcttgaagacccg	5	11	10	15	2	2	2	1	1	1	1	4	2	4	2	4	1	3	3	4	1	1	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:2428371A>G	ENST00000155858.6	-	20	3104	c.3096T>C	c.(3094-3096)gcT>gcC	p.A1032A	TRPM5_ENST00000452833.1_Silent_p.A1034A|TRPM5_ENST00000533060.1_Silent_p.A1032A|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Silent_p.A1032A	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)		GCTTGTGCTCAGCCTCCTTCT	0.697																																					NSCLC(1;49 61 17205 18850 43201)												0													26	26	26					11																	2428371		2193	4291	6484	SO:0001819	synonymous_variant	0			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.3096T>C	11.37:g.2428371A>G				Silent	SNP	superfamily_Ankyrin_rpt-contain_dom	p.A1034	ENST00000155858.6	37	c.3102	CCDS31340.1	11																																																																																			TRPM5	-	NULL	ENSG00000070985		0.697	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	-	0	148	0	A	NM_014555		2428371	-1	tier1	-	no_errors	ENST00000452833	ensembl	human	known	74_37	silent	5.26	126	7	SNP	0.121	G	G	2428371	A	G	2428371	2	3	163	1	0	0	0	0	0	0	0	1	16637	175	7	4		4	TRPM5	11	2428371	Silent	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09		2428371	132578145	194	41399											
NLRP14	338323	genome.wustl.edu	37	chr11	7059855	7059855	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttctttctttcctgattTtgggctgctattgtatttgg	4	22	8	7	0	3	1	0	1	3	0	4	1	4	1	1	2	1	3	1	2	2	9			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:7059855T>G	ENST00000299481.4	+	2	384	c.38T>G	c.(37-39)tTt>tGt	p.F13C		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	13	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)		TTTCCTGATTTTGGGCTGCTA	0.398																																																	0													91	99	96					11																	7059855		2201	4296	6497	SO:0001583	missense	0			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.38T>G	11.37:g.7059855T>G	ENSP00000299481:p.Phe13Cys		Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F13C	ENST00000299481.4	37	c.38	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	T	15.46	2.841424	0.51057	.	.	ENSG00000158077	ENST00000299481	T	0.49720	0.77	4.22	3.08	0.35506	Pyrin (2);DEATH-like (2);	0.143196	0.32952	N	0.005460	T	0.48114	0.1482	L	0.29908	0.895	0.26832	N	0.968566	D	0.58620	0.983	P	0.60886	0.88	T	0.31558	-0.9939	10	0.72032	D	0.01	.	7.1898	0.25818	0.1972:0.0:0.0:0.8027	.	13	Q86W24	NAL14_HUMAN	C	13	ENSP00000299481:F13C	ENSP00000299481:F13C	F	+	2	0	NLRP14	7016431	0.973000	0.33851	0.986000	0.45419	0.881000	0.50899	0.709000	0.25734	0.940000	0.37473	0.533000	0.62120	TTT	NLRP14	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	ENSG00000158077		0.398	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	-	0	55	0	T	NM_176822		7059855	1	tier1	-	no_errors	ENST00000299481	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.989	G	G	7059855	T	G	7059855	3	3	163	1	0	0	0	0	1	0	0	0	10515	1841	64	4	40	4	NLRP14	11	7059855	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	4631484	7059855	127946661	195	41400											
MICALCL	84953	genome.wustl.edu	37	chr11	12315442	12315442	+	Frame_Shift_Del	DEL	A	A	-																															cttggctggagaagaccgggAaaaagggagtactggagcca																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:12315442delA	ENST00000256186.2	+	3	755	c.464delA	c.(463-465)gaafs	p.E155fs		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	155					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)		GAAGACCGGGAAAAAGGGAGT	0.572																																																	0													60	68	65					11																	12315442		1949	4131	6080	SO:0001589	frameshift_variant	0			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.464delA	11.37:g.12315442delA	ENSP00000256186:p.Glu155fs		Q7RTP7|Q96JU6	Frame_Shift_Del	DEL	pfam_DUF3585,smart_ProQ/FinO	p.S158fs	ENST00000256186.2	37	c.464	CCDS41620.1	11																																																																																			MICALCL	-	NULL	ENSG00000133808		0.572	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1		0	38	0	A	NM_032867		12315442	1	tier1		no_errors	ENST00000256186	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.000	-	-	12315442	A	-	12315442	7	5	163	1	0	1	0	1	0	0	0	0	9610	246	9	0	470	0	MICALCL	11	12315442	Frame_Shift_Del	DEL	A	TCGA-VR-A8EQ-01A-11D-A36J-09	5255587	12315442	122691074	196	41401											
KCNA4	3739	genome.wustl.edu	37	chr11	30033455	30033455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcccccaactgatagaaCttcacctcctcagtgaagat	11	10	5	15	0	2	4	2	2	0	2	5	4	5	4	5	0	2	0	5	0	4	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:30033455C>G	ENST00000328224.6	-	2	2004	c.771G>C	c.(769-771)aaG>aaC	p.K257N	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	257					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)	ACTGATAGAACTTCACCTCCT	0.507																																																	0													86	78	80					11																	30033455		1876	4129	6005	SO:0001583	missense	0			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.771G>C	11.37:g.30033455C>G	ENSP00000328511:p.Lys257Asn			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.K257N	ENST00000328224.6	37	c.771	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925465	0.34002	.	.	ENSG00000182255	ENST00000328224	T	0.77620	-1.11	5.05	4.14	0.48551	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	L	0.53249	1.67	0.80722	D	1	P	0.46987	0.888	P	0.45881	0.496	T	0.76460	-0.2951	10	0.66056	D	0.02	.	10.0669	0.42308	0.0:0.7867:0.0:0.2133	.	257	P22459	KCNA4_HUMAN	N	257	ENSP00000328511:K257N	ENSP00000328511:K257N	K	-	3	2	KCNA4	29990031	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.259000	0.51515	1.134000	0.42165	0.655000	0.94253	AAG	KCNA4	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000182255		0.507	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	-	0	54	0	C	NM_002233		30033455	-1	tier1	-	no_errors	ENST00000328224	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	G	G	30033455	C	G	30033455	3	3	163	1	0	0	0	0	1	0	0	0	8032	564	20	5	1194	5	KCNA4	11	30033455	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	17718013	30033455	104973061	197	41402											
OR4C12	283093	genome.wustl.edu	37	chr11	50003189	50003189	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttctgagtgtgtagacCacgggatttaacattgggac	10	12	12	7	1	1	2	0	1	1	1	1	4	1	4	1	2	1	2	1	2	2	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:50003189C>A	ENST00000335238.4	-	1	882	c.849G>T	c.(847-849)gtG>gtT	p.V283V		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	283			V -> L (in dbSNP:rs4598671). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V283V(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GTGTGTAGACCACGGGATTTA	0.398																																																	1	Substitution - coding silent(1)	lung(1)											68	62	64					11																	50003189		2201	4296	6497	SO:0001819	synonymous_variant	0			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.849G>T	11.37:g.50003189C>A			B2RNF0|Q6IF49	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V283	ENST00000335238.4	37	c.849	CCDS31496.1	11																																																																																			OR4C12	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221954		0.398	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1		0	38	0	C	NM_001005270		50003189	-1			no_errors	ENST00000335238	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.979	A	A	50003189	C	A	50003189	2	1	163	1	0	0	0	0	0	0	0	1	11085	581	21	3		3	OR4C12	11	50003189	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	19969734	50003189	85003327	198	41403											
OR4C46	119749	genome.wustl.edu	37	chr11	51515472	51515472	+	Missense_Mutation	SNP	T	T	A	0	1	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	gtacctttccctggcctatcTctcctttattgatgcctgct	4	17	6	14	0	1	1	0	1	1	0	4	1	3	1	5	1	3	2	5	1	3	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:51515472T>A	ENST00000328188.1	+	1	191	c.191T>A	c.(190-192)cTc>cAc	p.L64H		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTGGCCTATCTCTCCTTTATT	0.478																																																	0													238	226	230					11																	51515472		2201	4296	6497	SO:0001583	missense	0				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.191T>A	11.37:g.51515472T>A	ENSP00000329056:p.Leu64His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L64H	ENST00000328188.1	37	c.191	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	11.84	1.758380	0.31137	.	.	ENSG00000185926	ENST00000328188	T	0.09255	3.0	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35013	N	0.003513	T	0.50034	0.1592	H	0.99777	4.77	0.19575	N	0.999962	D	0.76494	0.999	D	0.81914	0.995	T	0.56111	-0.8033	10	0.87932	D	0	.	8.8424	0.35151	0.0:0.0:0.0:1.0	.	64	A6NHA9	O4C46_HUMAN	H	64	ENSP00000329056:L64H	ENSP00000329056:L64H	L	+	2	0	OR4C46	51372048	0.740000	0.28207	0.573000	0.28510	0.027000	0.11550	5.280000	0.65603	1.239000	0.43787	0.113000	0.15668	CTC	OR4C46	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000185926		0.478	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	-	0	50	0	T	NM_001004703		51515472	1	tier1	-	no_errors	ENST00000328188	ensembl	human	known	74_37	missense	33.33	31	16	SNP	0.285	A	A	51515472	T	A	51515472	3	1	163	1	0	0	0	0	1	0	0	0	11090	1551	54	5	193	5	OR4C46	11	51515472	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	1512283	51515472	83491044	199	41404											
OR4C16	219428	genome.wustl.edu	37	chr11	55340184	55340184	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagaaacctatgtggttaAcctactcctggtttccaata	11	14	6	10	0	1	1	1	0	0	1	3	1	3	1	4	2	3	2	4	2	6	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:55340184A>C	ENST00000314634.3	+	1	581	c.581A>C	c.(580-582)aAc>aCc	p.N194T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TATGTGGTTAACCTACTCCTG	0.448																																																	0													95	89	91					11																	55340184		2201	4296	6497	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.581A>C	11.37:g.55340184A>C	ENSP00000324913:p.Asn194Thr		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N194T	ENST00000314634.3	37	c.581	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	A	9.932	1.215216	0.22373	.	.	ENSG00000181935	ENST00000314634	T	0.00123	8.7	4.98	1.3	0.21679	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.00271	0.0008	L	0.48260	1.515	0.09310	N	1	D	0.67145	0.996	D	0.71414	0.973	T	0.49978	-0.8881	10	0.87932	D	0	.	8.1149	0.30937	0.7457:0.0:0.2543:0.0	.	194	Q8NGL9	OR4CG_HUMAN	T	194	ENSP00000324913:N194T	ENSP00000324913:N194T	N	+	2	0	OR4C16	55096760	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.317000	0.19487	0.380000	0.24823	0.448000	0.29417	AAC	OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181935		0.448	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0	73	0	A	NM_001004701		55340184	1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	25.40	47	16	SNP	0.001	C	C	55340184	A	C	55340184	3	2	163	1	0	0	0	0	1	0	0	0	11088	43	2	4	583	4	OR4C16	11	55340184	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	3824712	55340184	79666332	200	41405											
OR8H3	390152	genome.wustl.edu	37	chr11	55889885	55889885	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgacacaaatgtggctgacTtcatccttacgggactgtca	11	11	9	10	1	2	2	2	2	0	0	3	3	3	3	1	2	1	1	1	2	2	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:55889885T>G	ENST00000313472.3	+	1	37	c.37T>G	c.(37-39)Ttc>Gtc	p.F13V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	13						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)					TGTGGCTGACTTCATCCTTAC	0.463																																																	0													181	172	175					11																	55889885		2201	4296	6497	SO:0001583	missense	0			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.37T>G	11.37:g.55889885T>G	ENSP00000323928:p.Phe13Val		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F13V	ENST00000313472.3	37	c.37	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	T	14.48	2.549001	0.45383	.	.	ENSG00000181761	ENST00000313472	T	0.04551	3.6	3.43	3.43	0.39272	.	0.000000	0.52532	D	0.000061	T	0.27967	0.0689	M	0.93939	3.475	0.39299	D	0.96487	D	0.89917	1.0	D	0.91635	0.999	T	0.41142	-0.9525	10	0.87932	D	0	.	12.2375	0.54524	0.0:0.0:0.0:1.0	.	13	Q8N146	OR8H3_HUMAN	V	13	ENSP00000323928:F13V	ENSP00000323928:F13V	F	+	1	0	OR8H3	55646461	0.994000	0.37717	0.946000	0.38457	0.120000	0.20174	2.672000	0.46850	1.322000	0.45245	0.136000	0.15936	TTC	OR8H3	-	NULL	ENSG00000181761		0.463	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	-	0	92	0	T	NM_001005201		55889885	1	tier1	-	no_errors	ENST00000313472	ensembl	human	known	74_37	missense	21.92	57	16	SNP	0.990	G	G	55889885	T	G	55889885	3	3	163	1	0	0	0	0	1	0	0	0	11278	1609	56	4	39	4	OR8H3	11	55889885	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	549701	55889885	79116631	201	41406											
OR5J2	282775	genome.wustl.edu	37	chr11	55944875	55944875	+	Missense_Mutation	SNP	A	A	G	1	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	cttaatctttagctacattcAgccaagctcccagtattttg	10	15	5	11	0	2	0	1	0	1	0	3	0	3	0	2	0	4	3	2	0	5	8			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:55944875A>G	ENST00000312298.1	+	1	782	c.782A>G	c.(781-783)cAg>cGg	p.Q261R		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AGCTACATTCAGCCAAGCTCC	0.443																																																	0													123	122	122					11																	55944875		2201	4296	6497	SO:0001583	missense	0			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.782A>G	11.37:g.55944875A>G	ENSP00000310788:p.Gln261Arg		Q6IEU5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.Q261R	ENST00000312298.1	37	c.782	CCDS31522.1	11	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.397584	0.00198	.	.	ENSG00000174957	ENST00000312298	T	0.36520	1.25	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000066	T	0.15912	0.0383	N	0.16478	0.41	0.09310	N	1	B	0.29188	0.236	B	0.31614	0.133	T	0.33266	-0.9875	10	0.02654	T	1	.	3.1819	0.06587	0.6575:0.0:0.1466:0.1959	.	261	Q8NH18	OR5J2_HUMAN	R	261	ENSP00000310788:Q261R	ENSP00000310788:Q261R	Q	+	2	0	OR5J2	55701451	0.000000	0.05858	0.200000	0.23457	0.045000	0.14185	-0.174000	0.09839	1.724000	0.51502	0.482000	0.46254	CAG	OR5J2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174957		0.443	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5J2	HGNC	protein_coding	OTTHUMT00000391544.1	-	0	50	0	A	NM_001005492		55944875	1	tier1	-	no_errors	ENST00000312298	ensembl	human	known	74_37	missense	26.32	28	10	SNP	0.021	G	G	55944875	A	G	55944875	3	3	163	1	0	0	0	0	1	0	0	0	11204	188	7	4	784	4	OR5J2	11	55944875	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	54990	55944875	79061641	202	41407											
OR5T3	390154	genome.wustl.edu	37	chr11	56020501	56020501	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacatgtggctctcacctaActggagtgacaatttatcat	11	13	7	10	0	2	1	2	1	1	0	3	2	2	2	1	2	2	1	1	2	4	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:56020501A>C	ENST00000303059.3	+	1	826	c.826A>C	c.(826-828)Act>Cct	p.T276P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CTCTCACCTAACTGGAGTGAC	0.408																																																	0													197	177	184					11																	56020501		2201	4295	6496	SO:0001583	missense	0			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.826A>C	11.37:g.56020501A>C	ENSP00000305403:p.Thr276Pro		Q6IFC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T276P	ENST00000303059.3	37	c.826	CCDS31524.1	11	.	.	.	.	.	.	.	.	.	.	A	10.42	1.344164	0.24339	.	.	ENSG00000172489	ENST00000303059	T	0.39229	1.09	4.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.135539	0.33631	N	0.004711	T	0.74921	0.3780	H	0.98351	4.21	0.09310	N	1	D	0.57257	0.979	D	0.69142	0.962	T	0.72541	-0.4262	10	0.87932	D	0	.	10.3959	0.44201	0.9191:0.0:0.0809:0.0	.	276	Q8NGG3	OR5T3_HUMAN	P	276	ENSP00000305403:T276P	ENSP00000305403:T276P	T	+	1	0	OR5T3	55777077	0.000000	0.05858	0.556000	0.28293	0.189000	0.23516	0.449000	0.21744	1.995000	0.58328	0.523000	0.50628	ACT	OR5T3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172489		0.408	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	-	0	71	0	A	NM_001004747		56020501	1	tier1	-	no_errors	ENST00000303059	ensembl	human	known	74_37	missense	22.22	42	12	SNP	0.020	C	C	56020501	A	C	56020501	3	2	163	1	0	0	0	0	1	0	0	0	11222	43	2	4	828	4	OR5T3	11	56020501	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	75626	56020501	78986015	203	41408											
TCN1	6947	genome.wustl.edu	37	chr11	59631536	59631536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcaacagaggttttaggcGgatgtagttttcttcactta	10	16	9	6	1	3	1	2	0	1	1	3	2	3	2	0	3	1	3	0	3	4	8			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:59631536G>A	ENST00000257264.3	-	2	207	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	35	Globular N-terminal alpha domain.		R -> H (in dbSNP:rs34528912).		cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTTTTAGGCGGATGTAGTTT	0.398																																																	0													185	179	181					11																	59631536		2201	4294	6495	SO:0001583	missense	0			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.103C>T	11.37:g.59631536G>A	ENSP00000257264:p.Arg35Cys		A8KAC5|Q8WV77	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk	p.R35C	ENST00000257264.3	37	c.103	CCDS7978.1	11	.	.	.	.	.	.	.	.	.	.	G	9.676	1.148116	0.21288	.	.	ENSG00000134827	ENST00000257264	T	0.35789	1.29	4.48	-2.66	0.06077	.	2.038570	0.02011	N	0.047039	T	0.32823	0.0842	L	0.54323	1.7	0.09310	N	1	B	0.18461	0.028	B	0.15484	0.013	T	0.28202	-1.0051	10	0.56958	D	0.05	.	5.1985	0.15250	0.3323:0.2723:0.3953:0.0	.	35	P20061	TCO1_HUMAN	C	35	ENSP00000257264:R35C	ENSP00000257264:R35C	R	-	1	0	TCN1	59388112	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.887000	0.04152	-0.614000	0.05687	0.609000	0.83330	CGC	TCN1	-	pfam_Cbl-bd_transpt_euk	ENSG00000134827		0.398	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCN1	HGNC	protein_coding	OTTHUMT00000394503.1	-	0	103	0	G	NM_001062		59631536	-1	tier1	-	no_errors	ENST00000257264	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.000	A	A	59631536	G	A	59631536	3	1	163	1	0	0	0	0	1	0	0	0	15753	1116	39	1	1230	1	TCN1	11	59631536	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	3611035	59631536	75374980	204	41409											
SCGB2A2	4250	genome.wustl.edu	37	chr11	62038514	62038514	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttaaccaaacggatgaaActctgagcaatgttgaggtg	13	11	10	7	1	2	3	0	3	2	0	2	4	2	4	1	2	4	2	1	2	4	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:62038514A>C	ENST00000227918.2	+	2	279	c.217A>C	c.(217-219)Act>Cct	p.T73P	SCGB2A2_ENST00000525380.1_Missense_Mutation_p.T73P	NM_002411.2	NP_002402.1	Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	73										large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						AACGGATGAAACTCTGAGCAA	0.378																																																	0													171	169	170					11																	62038514		2202	4299	6501	SO:0001583	missense	0			AF015224	CCDS8018.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000110484	ENSG00000110484		"Secretoglobins"	7050	protein-coding gene	gene with protein product	"mammaglobin A"	605562	"mammaglobin 1"	MGB1		9488047, 8631025, 22155607	Standard	XM_005274005		Approved	UGB2, MGC71974	uc001ntc.3	Q13296	OTTHUMG00000167509	ENST00000227918.2:c.217A>C	11.37:g.62038514A>C	ENSP00000227918:p.Thr73Pro		A1A522|Q86WH8	Missense_Mutation	SNP	pfam_Secretoglobin,superfamily_Secretoglobin	p.T73P	ENST00000227918.2	37	c.217	CCDS8018.1	11	.	.	.	.	.	.	.	.	.	.	A	13.72	2.321900	0.41096	.	.	ENSG00000110484	ENST00000227918;ENST00000525380	T;T	0.17691	2.26;2.26	3.06	3.06	0.35304	.	.	.	.	.	T	0.33206	0.0855	.	.	.	0.09310	N	1	D;D	0.69078	0.997;0.997	P;D	0.64776	0.884;0.929	T	0.04454	-1.0950	8	0.87932	D	0	.	7.9548	0.30035	1.0:0.0:0.0:0.0	.	73;73	Q13296-2;Q13296	.;SG2A2_HUMAN	P	73	ENSP00000227918:T73P;ENSP00000431997:T73P	ENSP00000227918:T73P	T	+	1	0	SCGB2A2	61795090	0.007000	0.16637	0.004000	0.12327	0.009000	0.06853	2.452000	0.44961	1.666000	0.50821	0.378000	0.23410	ACT	SCGB2A2	-	pfam_Secretoglobin,superfamily_Secretoglobin	ENSG00000110484		0.378	SCGB2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB2A2	HGNC	protein_coding	OTTHUMT00000394860.1	-	0	86	0	A	NM_002411		62038514	1	tier1	-	no_errors	ENST00000227918	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.005	C	C	62038514	A	C	62038514	3	2	163	1	0	0	0	0	1	0	0	0	13945	43	2	4	223	4	SCGB2A2	11	62038514	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	2406978	62038514	72968002	205	41410											
FERMT3	83706	genome.wustl.edu	37	chr11	63987724	63987724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgatgttaacgtctccGgccagaagttctgcattaaa	10	12	8	11	3	2	1	0	0	2	1	4	2	3	1	3	1	2	3	3	1	4	4	rs150164798		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:63987724G>A	ENST00000279227.5	+	11	1344	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	FERMT3_ENST00000345728.5_Missense_Mutation_p.G413S	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	417	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						TAACGTCTCCGGCCAGAAGTT	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		18348	0		0	False		,,,				2504	0																0								G	SER/GLY,SER/GLY	3,4399	6.2+/-15.9	0,3,2198	283	283	283		1237,1249	3.5	0.8	11	dbSNP_134	283	0,8594		0,0,4297	no	missense,missense	FERMT3	NM_031471.5,NM_178443.2	56,56	0,3,6495	AA,AG,GG		0.0,0.0682,0.0231	benign,benign	413/664,417/668	63987724	3,12993	2201	4297	6498	SO:0001583	missense	0			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.1249G>A	11.37:g.63987724G>A	ENSP00000279227:p.Gly417Ser		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G417S	ENST00000279227.5	37	c.1249	CCDS8060.1	11	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354656	0.41700	6.82E-4	0.0	ENSG00000149781	ENST00000345728;ENST00000279227	T;T	0.74421	-0.84;-0.84	4.36	3.45	0.39498	Band 4.1 domain (1);FERM central domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.297787	0.30639	N	0.009185	T	0.59609	0.2206	L	0.35341	1.055	0.44085	D	0.996844	B;B	0.10296	0.0;0.003	B;B	0.11329	0.002;0.006	T	0.54268	-0.8319	10	0.36615	T	0.2	-23.7559	6.7295	0.23375	0.0935:0.0:0.7306:0.1758	.	413;417	Q86UX7-2;Q86UX7	.;URP2_HUMAN	S	413;417	ENSP00000339950:G413S;ENSP00000279227:G417S	ENSP00000279227:G417S	G	+	1	0	FERMT3	63744300	0.995000	0.38212	0.811000	0.32455	0.849000	0.48306	3.530000	0.53539	1.179000	0.42884	0.561000	0.74099	GGC	FERMT3	-	pfam_FERM_central,pfam_Pleckstrin_homology,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000149781		0.612	FERMT3-001	KNOWN	basic|CCDS	protein_coding	FERMT3	HGNC	protein_coding	OTTHUMT00000396297.1	-	0	24	0	G	NM_031471		63987724	1	tier1	rs150164798	no_errors	ENST00000279227	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.943	A	A	63987724	G	A	63987724	3	1	163	1	0	0	0	0	1	0	0	0	5841	1116	39	1	1287	1	FERMT3	11	63987724	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1949210	63987724	71018792	206	41411											
CCDC88B	283234	genome.wustl.edu	37	chr11	64119645	64119645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagggccaggagctgcaccGgaagctggaggtgctggagg	8	5	19	9	1	1	0	1	0	0	0	1	4	1	4	2	7	4	4	2	7	1	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:64119645G>A	ENST00000356786.5	+	19	3187	c.3143G>A	c.(3142-3144)cGg>cAg	p.R1048Q	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R200Q|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1048						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						GAGCTGCACCGGAAGCTGGAG	0.677																																																	0													31	34	33					11																	64119645		2201	4296	6497	SO:0001583	missense	0			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.3143G>A	11.37:g.64119645G>A	ENSP00000349238:p.Arg1048Gln		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_Hook-related_fam	p.R1048Q	ENST00000356786.5	37	c.3143	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	g	7.979	0.750688	0.15778	.	.	ENSG00000168071	ENST00000356786;ENST00000359902	T;T	0.43294	1.97;0.95	4.87	1.36	0.22044	.	.	.	.	.	T	0.30541	0.0768	L	0.54323	1.7	0.42587	D	0.993235	B;B;B	0.30236	0.013;0.274;0.013	B;B;B	0.12156	0.002;0.007;0.002	T	0.07233	-1.0783	9	0.27082	T	0.32	.	7.7306	0.28786	0.3211:0.0:0.6789:0.0	.	1048;184;1048	B2RTU8;A6NC98-5;A6NC98	.;.;CC88B_HUMAN	Q	1048;200	ENSP00000349238:R1048Q;ENSP00000352974:R200Q	ENSP00000349238:R1048Q	R	+	2	0	CCDC88B	63876221	0.526000	0.26298	0.122000	0.21767	0.443000	0.32047	0.928000	0.28831	0.457000	0.26962	0.457000	0.33378	CGG	CCDC88B	-	NULL	ENSG00000168071		0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1		0	43	0	G	NM_032251		64119645	1			no_errors	ENST00000356786	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.051	A	A	64119645	G	A	64119645	3	1	163	1	0	0	0	0	1	0	0	0	2871	1116	39	1	3217	1	CCDC88B	11	64119645	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	131921	64119645	70886871	207	41412											
ATG2A	23130	genome.wustl.edu	37	chr11	64681916	64681916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctcgatggagcccacGaagccttccaccagctccag	9	5	9	18	2	0	0	0	0	0	0	3	3	2	1	7	1	3	1	7	1	1	1	rs368301169		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:64681916G>T	ENST00000377264.3	-	2	340	c.228C>A	c.(226-228)ttC>ttA	p.F76L	ATG2A_ENST00000421419.2_Missense_Mutation_p.F76L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	76					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						TGGAGCCCACGAAGCCTTCCA	0.637																																																	0													51	52	51					11																	64681916		2201	4297	6498	SO:0001583	missense	0				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.228C>A	11.37:g.64681916G>T	ENSP00000366475:p.Phe76Leu		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.F76L	ENST00000377264.3	37	c.228	CCDS31602.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.48|19.48	3.835794|3.835794	0.71373|0.71373	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459|ENST00000377262	T;T|.	0.47177|.	0.85;0.85|.	3.91|3.91	-3.72|-3.72	0.04411|0.04411	.|.	0.141268|.	0.46758|.	D|.	0.000266|.	T|T	0.64583|0.64583	0.2611|0.2611	M|M	0.66939|0.66939	2.045|2.045	0.45554|0.45554	D|D	0.998502|0.998502	P|.	0.52170|.	0.951|.	P|.	0.53313|.	0.723|.	T|T	0.62854|0.62854	-0.6766|-0.6766	10|6	0.54805|0.34782	T|T	0.06|0.22	.|.	10.9106|10.9106	0.47106|0.47106	0.6866:0.0:0.3134:0.0|0.6866:0.0:0.3134:0.0	.|.	76|.	Q2TAZ0|.	ATG2A_HUMAN|.	L|S	76|74	ENSP00000410522:F76L;ENSP00000366475:F76L|.	ENSP00000227459:F76L|ENSP00000366473:R74S	F|R	-|-	3|1	2|0	ATG2A|ATG2A	64438492|64438492	0.993000|0.993000	0.37304|0.37304	0.947000|0.947000	0.38551|0.38551	0.923000|0.923000	0.55619|0.55619	0.314000|0.314000	0.19432|0.19432	-0.939000|-0.939000	0.03709|0.03709	-0.461000|-0.461000	0.05368|0.05368	TTC|CGT	ATG2A	-	NULL	ENSG00000110046		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1		0	81	0	G	NM_015104		64681916	-1			no_errors	ENST00000421419	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.987	T	T	64681916	G	T	64681916	3	4	163	1	0	0	0	0	1	0	0	0	1094	1049	37	2	5748	2	ATG2A	11	64681916	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	562271	64681916	70324600	208	41413											
FGF3	2248	genome.wustl.edu	37	chr11	69625251	69625251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggtccctgtggtccagcacgCggggcaggaacagggaggac	8	4	18	11	2	0	0	0	0	0	0	2	3	2	3	2	7	2	2	2	7	1	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:69625251C>T	ENST00000334134.2	-	3	632	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	181					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GTCCAGCACGCGGGGCAGGAA	0.687																																																	0													22	24	23					11																	69625251		2190	4268	6458	SO:0001583	missense	0				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.542G>A	11.37:g.69625251C>T	ENSP00000334122:p.Arg181His		Q0VG69	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R181H	ENST00000334134.2	37	c.542	CCDS8195.1	11	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849693	0.91277	.	.	ENSG00000186895	ENST00000334134	T	0.69435	-0.4	4.01	4.01	0.46588	.	0.055897	0.64402	D	0.000002	T	0.73713	0.3622	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73244	-0.4044	9	.	.	.	.	16.1475	0.81580	0.0:1.0:0.0:0.0	.	181	P11487	FGF3_HUMAN	H	181	ENSP00000334122:R181H	.	R	-	2	0	FGF3	69334432	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.414000	0.66405	1.763000	0.52060	0.462000	0.41574	CGC	FGF3	-	superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000186895		0.687	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	HGNC	protein_coding	OTTHUMT00000396835.1	-	0	112	0	C	NM_005247		69625251	-1	tier1	rs148203315	no_errors	ENST00000334134	ensembl	human	known	74_37	missense	25.00	66	22	SNP	1.000	T	T	69625251	C	T	69625251	3	4	163	1	0	0	0	0	1	0	0	0	5875	768	27	1	181	1	FGF3	11	69625251	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	4943335	69625251	65381265	209	41414											
TRIM49	57093	genome.wustl.edu	37	chr11	89531678	89531678	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaccccatgcaagaaaacTtctaggtgttgcagtgaaat	15	9	8	9	0	1	2	0	1	1	1	1	2	1	2	2	1	4	3	2	1	6	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:89531678T>G	ENST00000329758.1	-	8	1307	c.979A>C	c.(979-981)Agt>Cgt	p.S327R	TRIM49_ENST00000532501.2_Missense_Mutation_p.S250R	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	327	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)				GCAAGAAAACTTCTAGGTGTT	0.418																																																	0													13	16	15					11																	89531678		2019	4186	6205	SO:0001583	missense	0			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.979A>C	11.37:g.89531678T>G	ENSP00000327604:p.Ser327Arg		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.S327R	ENST00000329758.1	37	c.979	CCDS8287.1	11	.	.	.	.	.	.	.	.	.	.	T	1.569	-0.534586	0.04082	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.08546	3.08	0.539	-1.08	0.09936	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.05823	0.0152	L	0.37850	1.14	0.09310	N	1	B	0.22211	0.066	B	0.20184	0.028	T	0.42666	-0.9438	7	.	.	.	.	.	.	.	.	327	P0CI25	TRI49_HUMAN	R	327;250	ENSP00000327604:S327R	.	S	-	1	0	TRIM49	89171326	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.057000	0.11768	-0.399000	0.07668	-1.394000	0.01149	AGT	TRIM49	-	superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY	ENSG00000168930		0.418	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1		0	102	0	T	NM_020358		89531678	-1			no_errors	ENST00000329758	ensembl	human	known	74_37	missense	7.69	72	6	SNP	0.000	G	G	89531678	T	G	89531678	3	3	163	1	0	0	0	0	1	0	0	0	16572	1609	56	4	383	4	TRIM49	11	89531678	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	19906427	89531678	45474838	210	41415											
KDM4DL	390245	genome.wustl.edu	37	chr11	94758839	94758839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttacatggagtcccaaggcGcacatcaagctggccttgcc	9	8	10	14	1	1	0	1	0	0	0	2	1	2	1	3	3	3	2	3	3	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:94758839G>T	ENST00000450979.2	+	1	418	c.118G>T	c.(118-120)Gca>Tca	p.A40S		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	40	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GTCCCAAGGCGCACATCAAGC	0.463																																																	0													92	70	77					11																	94758839		692	1591	2283	SO:0001583	missense	0			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"Chromatin-modifying enzymes / K-demethylases"	37098	protein-coding gene	gene with protein product			"lysine (K)-specific demethylase 4D-like"	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.118G>T	11.37:g.94758839G>T	ENSP00000397239:p.Ala40Ser			Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.A40S	ENST00000450979.2	37	c.118	CCDS44713.1	11	.	.	.	.	.	.	.	.	.	.	g	14.29	2.491678	0.44249	.	.	ENSG00000235268	ENST00000450979	T	0.24151	1.87	2.18	2.18	0.27775	Transcription factor jumonji, JmjN (2);	.	.	.	.	T	0.52386	0.1731	M	0.87617	2.895	0.32152	N	0.584137	D	0.89917	1.0	D	0.97110	1.0	T	0.61987	-0.6949	9	0.52906	T	0.07	-18.7063	10.4356	0.44433	0.0:0.0:1.0:0.0	.	40	B2RXH2	KD4DL_HUMAN	S	40	ENSP00000397239:A40S	ENSP00000397239:A40S	A	+	1	0	KDM4DL	94398487	1.000000	0.71417	0.602000	0.28890	0.425000	0.31504	6.761000	0.74945	1.543000	0.49345	0.455000	0.32223	GCA	KDM4E	-	pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN	ENSG00000235268		0.463	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1		0	51	0	G	NM_001161630		94758839	1			no_errors	ENST00000450979	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.986	T	T	94758839	G	T	94758839	3	4	163	1	0	0	0	0	1	0	0	0	8159	1087	38	2	120	2	KDM4DL	11	94758839	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	5227161	94758839	40247677	211	41416											
CCDC82	79780	genome.wustl.edu	37	chr11	96098237	96098237	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatatttacagtagcgatgCagtccacaagcctggcagga	13	8	11	9	1	0	0	0	0	0	0	1	3	1	1	2	2	4	3	2	2	5	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:96098237C>T	ENST00000278520.5	-	7	1715	c.1287G>A	c.(1285-1287)ctG>ctA	p.L429L	CCDC82_ENST00000542662.1_Silent_p.L429L|CCDC82_ENST00000423339.2_Silent_p.L429L			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	429										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)		AGTAGCGATGCAGTCCACAAG	0.333																																																	0													87	85	86					11																	96098237		2201	4298	6499	SO:0001819	synonymous_variant	0			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.1287G>A	11.37:g.96098237C>T			B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	NULL	p.L429	ENST00000278520.5	37	c.1287	CCDS8307.1	11																																																																																			CCDC82	-	NULL	ENSG00000149231		0.333	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	-	0	109	0	C	NM_024725		96098237	-1	tier1	-	no_errors	ENST00000278520	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.828	T	T	96098237	C	T	96098237	2	4	163	1	0	0	0	0	0	0	0	1	2863	697	25	3		3	CCDC82	11	96098237	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	1339398	96098237	38908279	212	41417											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103191922	103191923	+	Frame_Shift_Ins	INS	-	-	T																															ccaaaggaacaagaaaagcaINStttttccatattccgtatct																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:103191922_103191923insT	ENST00000375735.2	+	81	12034_12035	c.11890_11891insT	c.(11890-11892)attfs	p.I3964fs	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Frame_Shift_Ins_p.I3971fs	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3964					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)	p.P1406fs*44(1)		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)		CAAGAAAAGCATTTTTCCATAT	0.327																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			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.11895dupT	11.37:g.103191927_103191927dupT	ENSP00000364887:p.Ile3964fs		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Frame_Shift_Ins	INS	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P3973fs	ENST00000375735.2	37	c.11911_11912	CCDS53701.1	11																																																																																			DYNC2H1	-	pfam_Dynein_heavy_dom	ENSG00000187240		0.327	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1		0	72	0	-	XM_370652		103191923	1	tier1		no_errors	ENST00000398093	ensembl	human	known	74_37	frame_shift_ins	23.08	40	12	INS	0.000:0.006	T	T	103191923	-	T	103191922	7	5	163	1	0	1	1	0	0	0	0	0	4860	217	8	0	12237	0	DYNC2H1	11	103191922	Frame_Shift_Ins	INS	-	TCGA-VR-A8EQ-01A-11D-A36J-09	7093685	103191922	31814594	213	41418											
CASP5	838	genome.wustl.edu	37	chr11	104878040	104878041	+	Frame_Shift_Ins	INS	-	-	T																															gtattccaacatcttaactgINSttttttttttgtggttgtct																								rs112680102|rs144697764		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:104878040_104878041insT	ENST00000260315.3	-	3	201_202	c.202_203insA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000393141.2_Frame_Shift_Ins_p.T81fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.T81fs|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.T10fs|CASP5_ENST00000393139.2_Frame_Shift_Ins_p.T35fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CATCTTAACTGTTTTTTTTTTG	0.356																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.203dupA	11.37:g.104878050_104878050dupT	ENSP00000260315:p.Thr68fs		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Ins	INS	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.T81fs	ENST00000260315.3	37	c.242_241	CCDS8328.2	11																																																																																			CASP5	-	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000137757		0.356	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2		0	46	0	-	NM_004347		104878041	-1	tier1		no_errors	ENST00000393141	ensembl	human	known	74_37	frame_shift_ins	10.20	44	5	INS	0.000:0.000	T	T	104878041	-	T	104878040	7	5	163	1	0	1	1	0	0	0	0	0	2681	1377	48	0	1129	0	CASP5	11	104878040	Frame_Shift_Ins	INS	-	TCGA-VR-A8EQ-01A-11D-A36J-09	1686118	104878040	30128476	214	41419											
RAB39	54734	genome.wustl.edu	37	chr11	107832695	107832695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataacccgatcttattaccGcaactcagttggtggatttt	11	14	7	9	2	2	0	1	0	1	0	2	2	2	1	2	2	3	2	2	2	5	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:107832695G>T	ENST00000320578.2	+	2	317	c.251G>T	c.(250-252)cGc>cTc	p.R84L		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	84					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										TCTTATTACCGCAACTCAGTT	0.353																																																	0													67	65	66					11																	107832695		2201	4298	6499	SO:0001583	missense	0			X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"RAB, member RAS oncogene"	16521	protein-coding gene	gene with protein product	"rab-related GTP-binding protein"		"RAB39, member RAS oncogene family"	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.251G>T	11.37:g.107832695G>T	ENSP00000322594:p.Arg84Leu		A8KAA4|Q8N6W2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R84L	ENST00000320578.2	37	c.251	CCDS8338.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.145359	0.94603	.	.	ENSG00000179331	ENST00000320578	D	0.82255	-1.59	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000010	D	0.92616	0.7654	H	0.95260	3.645	0.80722	D	1	D	0.63880	0.993	P	0.55260	0.772	D	0.94426	0.7645	10	0.87932	D	0	.	19.3618	0.94442	0.0:0.0:1.0:0.0	.	84	Q14964	RB39A_HUMAN	L	84	ENSP00000322594:R84L	ENSP00000322594:R84L	R	+	2	0	RAB39	107337905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.125000	0.94402	2.794000	0.96219	0.650000	0.86243	CGC	RAB39A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000179331		0.353	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB39A	HGNC	protein_coding	OTTHUMT00000389423.1		0	56	0	G	NM_017516		107832695	1			no_errors	ENST00000320578	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	107832695	G	T	107832695	3	4	163	1	0	0	0	0	1	0	0	0	12974	1087	38	2	257	2	RAB39	11	107832695	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2954655	107832695	27173821	215	41420											
HTR3A	3359	genome.wustl.edu	37	chr11	113853941	113853941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggtggtgactgcctgtagCctcgacatctacaacttccc	8	10	9	14	1	1	1	0	1	1	0	3	2	2	1	3	2	4	1	3	2	3	3	rs144045043		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:113853941C>T	ENST00000504030.2	+	5	919	c.474C>T	c.(472-474)agC>agT	p.S158S	HTR3A_ENST00000506841.2_Silent_p.S158S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Silent_p.S164S|HTR3A_ENST00000355556.2_Silent_p.S164S|HTR3A_ENST00000299961.5_Silent_p.S143S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	158					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)	CTGCCTGTAGCCTCGACATCT	0.552																																																	0								C	,,	0,4402		0,0,2201	211	190	198		492,429,492	5.4	1	11	dbSNP_134	198	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	HTR3A	NM_000869.5,NM_001161772.2,NM_213621.3	,,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,,	164/485,143/464,164/517	113853941	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	0			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.474C>T	11.37:g.113853941C>T			B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S164	ENST00000504030.2	37	c.492		11																																																																																			HTR3A	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000166736		0.552	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	HTR3A	HGNC	protein_coding	OTTHUMT00000360822.2		0	71	0	C	NM_000869		113853941	1			no_errors	ENST00000355556	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	T	T	113853941	C	T	113853941	2	4	163	1	0	0	0	0	0	0	0	1	7471	738	26	3		3	HTR3A	11	113853941	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	6021246	113853941	21152575	216	41421											
SIK3	23387	genome.wustl.edu	37	chr11	116732947	116732947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggagaatttgatggtGctgctcctgctggtataaca	8	14	12	7	0	0	2	0	1	0	1	1	3	1	2	1	3	5	5	1	3	3	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:116732947G>T	ENST00000292055.4	-	16	1917	c.1882C>A	c.(1882-1884)Cac>Aac	p.H628N	SIK3_ENST00000446921.2_Missense_Mutation_p.H686N|SIK3_ENST00000434315.2_Missense_Mutation_p.H527N|SIK3_ENST00000375288.1_Missense_Mutation_p.S59R|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.H686N|SIK3_ENST00000542607.1_Missense_Mutation_p.H628N	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	628	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						ATTTGATGGTGCTGCTCCTGC	0.478																																																	0													199	184	189					11																	116732947		2201	4296	6497	SO:0001583	missense	0			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.1882C>A	11.37:g.116732947G>T	ENSP00000292055:p.His628Asn		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.H686N	ENST00000292055.4	37	c.2056	CCDS8379.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	g|g|g	22.7|22.7|22.7	4.324182|4.324182|4.324182	0.81580|0.81580|0.81580	.|.|.	.|.|.	ENSG00000160584|ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315|ENST00000375288	.|T;T;T;T|T	.|0.75477|0.33865	.|-0.92;-0.94;-0.74;-0.53|1.39	5.95|5.95|5.95	5.95|5.95|5.95	0.96441|0.96441|0.96441	.|Protein kinase-like domain (1);|.	.|0.000000|.	.|0.43416|.	.|U|.	.|0.000569|.	T|T|T	0.37210|0.37210|0.37210	0.0995|0.0995|0.0995	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.39022|0.39022|0.39022	D|D|D	0.959763|0.959763|0.959763	.|P;P;P|P	.|0.40144|0.46512	.|0.704;0.651;0.651|0.879	.|B;B;B|P	.|0.41666|0.45829	.|0.363;0.272;0.272|0.494	T|T|T	0.26503|0.26503|0.26503	-1.0101|-1.0101|-1.0101	5|10|9	.|0.59425|0.87932	.|D|D	.|0.04|0	.|.|.	20.3645|20.3645|20.3645	0.98876|0.98876|0.98876	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|628;527;628|59	.|A1A5A8;A1A5A9;Q9Y2K2|Q9Y2K2-2	.|.;.;SIK3_HUMAN|.	E|N|R	727;650|686;628;628;527|59	.|ENSP00000364449:H686N;ENSP00000292055:H628N;ENSP00000438108:H628N;ENSP00000415873:H527N|ENSP00000364437:S59R	.|ENSP00000292055:H628N|ENSP00000364437:S59R	A|H|S	-|-|-	2|1|3	0|0|2	SIK3|SIK3|SIK3	116238157|116238157|116238157	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	9.471000|9.471000|9.471000	0.97696|0.97696|0.97696	2.821000|2.821000|2.821000	0.97095|0.97095|0.97095	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCA|CAC|AGC	SIK3	-	NULL	ENSG00000160584		0.478	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding		-	0	92	0	G	NM_025164		116732947	-1	tier1	-	no_errors	ENST00000375300	ensembl	human	known	74_37	missense	6.35	57	4	SNP	1.000	T	T	116732947	G	T	116732947	3	4	163	1	0	0	0	0	1	0	0	0	14364	1319	46	3	1941	3	SIK3	11	116732947	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2879006	116732947	18273569	217	41422											
IL10RA	3587	genome.wustl.edu	37	chr11	117859096	117859096	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactgacactcttctccccaGggacagagctgcccagccct	8	8	8	17	0	2	2	0	1	2	1	3	3	2	3	4	1	4	1	4	1	1	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:117859096G>T	ENST00000227752.3	+	2	187		c.e2-1		IL10RA_ENST00000533700.1_Splice_Site|IL10RA_ENST00000545409.1_Splice_Site|IL10RA_ENST00000541785.1_Splice_Site	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha						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)		CTTCTCCCCAGGGACAGAGCT	0.532																																																	0													106	104	105					11																	117859096		2201	4296	6497	SO:0001630	splice_region_variant	0			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.68-1G>T	11.37:g.117859096G>T			A8K6I0|B0YJ27	Splice_Site	SNP	-	e2-1	ENST00000227752.3	37	c.68-1	CCDS8388.1	11	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928769	0.34002	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	.	.	.	5.13	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7937	0.52084	0.0:0.342:0.658:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL10RA	117364306	0.000000	0.05858	0.001000	0.08648	0.340000	0.28889	0.299000	0.19138	0.514000	0.28300	0.555000	0.69702	.	IL10RA	-	-	ENSG00000110324		0.532	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10RA	HGNC	protein_coding	OTTHUMT00000390167.1	-	0	76	0	G		Intron	117859096	1	tier1	-	no_errors	ENST00000227752	ensembl	human	known	74_37	splice_site	7.14	65	5	SNP	0.002	T	T	117859096	G	T	117859096	5	4	163	1	0	0	0	0	0	0	1	0	7647	1014	35	3	73	3	IL10RA	11	117859096	Splice_Site	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1126149	117859096	17147420	218	41423											
TBCEL	219899	genome.wustl.edu	37	chr11	120929152	120929152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgcagccatataccaccGaggagcgaaggaaattggta	13	8	11	9	2	1	0	0	0	1	0	1	4	1	2	3	3	4	2	3	3	5	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:120929152G>A	ENST00000529397.1	+	6	911	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TBCEL_ENST00000422003.2_Missense_Mutation_p.E271K	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	271	LRRCT.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		ATATACCACCGAGGAGCGAAG	0.398																																																	0													167	155	159					11																	120929152		2203	4299	6502	SO:0001583	missense	0			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"leucine rich repeat containing 35", "tubulin-specific chaperone e-like"	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.811G>A	11.37:g.120929152G>A	ENSP00000437184:p.Glu271Lys		Q0VAN6	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.E271K	ENST00000529397.1	37	c.811	CCDS31692.1	11	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181973	0.57800	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533134;ENST00000533169	T;T;T	0.44083	0.93;0.93;0.93	5.96	5.96	0.96718	.	0.199769	0.52532	D	0.000073	T	0.33323	0.0859	N	0.21097	0.63	0.80722	D	1	B	0.19935	0.04	B	0.12837	0.008	T	0.07009	-1.0795	10	0.21540	T	0.41	-29.5945	20.4192	0.99033	0.0:0.0:1.0:0.0	.	271	Q5QJ74	TBCEL_HUMAN	K	271;271;38;74	ENSP00000437184:E271K;ENSP00000403925:E271K;ENSP00000436419:E38K	ENSP00000403925:E271K	E	+	1	0	TBCEL	120434362	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	4.448000	0.60027	2.831000	0.97527	0.650000	0.86243	GAG	TBCEL	-	NULL	ENSG00000154114		0.398	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TBCEL	HGNC	protein_coding	OTTHUMT00000387688.1	-	0	83	0	G	NM_152715		120929152	1	tier1	-	no_errors	ENST00000422003	ensembl	human	known	74_37	missense	28.74	62	25	SNP	1.000	A	A	120929152	G	A	120929152	3	1	163	1	0	0	0	0	1	0	0	0	15682	1059	37	1	829	1	TBCEL	11	120929152	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	3070056	120929152	14077364	219	41424											
ARHGAP32	9743	genome.wustl.edu	37	chr11	128840140	128840140	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtagtggacccggccattCtcaaagtaaggctgaagctg	10	9	12	10	1	1	1	1	1	1	0	2	2	1	2	2	3	1	4	2	3	4	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr11:128840140C>T	ENST00000310343.9	-	22	4925	c.4926G>A	c.(4924-4926)gaG>gaA	p.E1642E	ARHGAP32_ENST00000392657.3_Silent_p.E1293E|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.E1293E	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1642	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						CCCGGCCATTCTCAAAGTAAG	0.507																																																	0													89	85	86					11																	128840140		2201	4297	6498	SO:0001819	synonymous_variant	0			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.4926G>A	11.37:g.128840140C>T			I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E1642	ENST00000310343.9	37	c.4926	CCDS44769.1	11																																																																																			ARHGAP32	-	NULL	ENSG00000134909		0.507	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	-	0	66	0	C	NM_014715		128840140	-1	tier1	-	no_errors	ENST00000310343	ensembl	human	known	74_37	silent	18.75	26	6	SNP	1.000	T	T	128840140	C	T	128840140	2	4	163	1	0	0	0	0	0	0	0	1	881	912	32	3		3	ARHGAP32	11	128840140	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	7910988	128840140	6166376	220	41425											
KDM5A	5927	genome.wustl.edu	37	chr12	419113	419113	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatatacaccaatgtcGgtccgggggctcagcaccta	9	8	9	15	2	1	0	1	0	0	0	4	0	3	0	4	3	2	2	4	3	4	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:419113G>A	ENST00000399788.2	-	22	3596	c.3234C>T	c.(3232-3234)acC>acT	p.T1078T	KDM5A_ENST00000382815.4_Silent_p.T1078T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1078					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						CACCAATGTCGGTCCGGGGGC	0.358			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													59	56	57					12																	419113		1795	4068	5863	SO:0001819	synonymous_variant	0				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.3234C>T	12.37:g.419113G>A			A8MV76|Q4LE72|Q86XZ1	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.T1078	ENST00000399788.2	37	c.3234	CCDS41736.1	12																																																																																			KDM5A	-	NULL	ENSG00000073614		0.358	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	-	0	89	0	G	NM_005056		419113	-1	tier1	-	no_errors	ENST00000399788	ensembl	human	known	74_37	silent	26.98	46	17	SNP	0.999	A	A	419113	G	A	419113	2	1	163	1	0	0	0	0	0	0	0	1	8160	1103	39	1		1	KDM5A	12	419113	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		419113	133432782	221	41426											
FAM90A1	55138	genome.wustl.edu	37	chr12	8376111	8376111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctctggaggtttcctGgaaaatatgtggaggagagc	9	11	15	6	0	1	1	0	0	1	1	3	5	2	4	1	6	1	2	1	6	3	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:8376111G>A	ENST00000538603.1	-	6	924	c.366C>T	c.(364-366)tcC>tcT	p.S122S	FAM90A1_ENST00000307435.6_Silent_p.S122S	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	122							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GAGGTTTCCTGGAAAATATGT	0.547													.|||	2	0.000399361	0	0.0029	5008	,	,		16708	0		0	False		,,,				2504	0																0																																										SO:0001819	synonymous_variant	0			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.366C>T	12.37:g.8376111G>A			D3DUU9|Q9NVZ6	Silent	SNP	NULL	p.S122	ENST00000538603.1	37	c.366	CCDS31738.1	12																																																																																			FAM90A1	-	NULL	ENSG00000171847		0.547	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM90A1	HGNC	protein_coding	OTTHUMT00000400468.1	-	0	342	0	G	NM_018088		8376111	-1	tier1	rs138311120	no_errors	ENST00000307435	ensembl	human	known	74_37	silent	7.18	181	14	SNP	0.000	A	A	8376111	G	A	8376111	2	1	163	1	0	0	0	0	0	0	0	1	5672	1335	47	3		3	FAM90A1	12	8376111	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	7956998	8376111	125475784	222	41427											
RIMKLB	57494	genome.wustl.edu	37	chr12	8925956	8925956	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcattgagtgaacaagggaAgcagctagctatccaggtgt	12	9	12	8	0	1	2	1	2	0	0	2	3	2	3	1	2	4	3	1	2	5	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:8925956A>G	ENST00000538135.1	+	6	1562	c.737A>G	c.(736-738)aAg>aGg	p.K246R	RIMKLB_ENST00000357529.3_Missense_Mutation_p.K246R|RIMKLB_ENST00000299673.5_3'UTR|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000535829.1_Missense_Mutation_p.K246R			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	246	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				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						GAACAAGGGAAGCAGCTAGCT	0.428																																																	0													191	190	190					12																	8925956		2044	4198	6242	SO:0001583	missense	0			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.737A>G	12.37:g.8925956A>G	ENSP00000440943:p.Lys246Arg		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.K246R	ENST00000538135.1	37	c.737	CCDS41748.1	12	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849631	0.32699	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.56	5.56	0.83823	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	U	0.000000	T	0.27349	0.0671	N	0.11673	0.155	0.40552	D	0.981127	B;B	0.12013	0.005;0.003	B;B	0.16289	0.015;0.01	T	0.19418	-1.0306	9	0.02654	T	1	.	9.1165	0.36762	0.9179:0.0:0.0821:0.0	.	246;246	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	R	246	.	ENSP00000350136:K246R	K	+	2	0	RIMKLB	8817223	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.888000	0.69758	2.112000	0.64535	0.482000	0.46254	AAG	RIMKLB	-	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	ENSG00000166532		0.428	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLB	HGNC	protein_coding	OTTHUMT00000398874.1	-	0	39	0	A	NM_020734		8925956	1	tier1	-	no_errors	ENST00000357529	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	G	G	8925956	A	G	8925956	3	3	163	1	0	0	0	0	1	0	0	0	13411	72	3	4	755	4	RIMKLB	12	8925956	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	549845	8925956	124925939	223	41428											
ETV6	2120	genome.wustl.edu	37	chr12	12022497	12022497	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaccccgagcagcggcccctCcggtcccccctggacaacat	7	4	10	20	3	0	0	0	0	0	0	2	3	2	1	8	3	3	1	8	3	1	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:12022497C>T	ENST00000396373.4	+	5	877	c.603C>T	c.(601-603)ctC>ctT	p.L201L		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	201					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AGCGGCCCCTCCGGTCCCCCC	0.632			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																			Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	0													130	147	142					12																	12022497		2203	4300	6503	SO:0001819	synonymous_variant	0			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.603C>T	12.37:g.12022497C>T			A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.L201	ENST00000396373.4	37	c.603	CCDS8643.1	12																																																																																			ETV6	-	NULL	ENSG00000139083		0.632	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	HGNC	protein_coding	OTTHUMT00000400130.2	-	0	22	0	C	NM_001987		12022497	1	tier1	-	no_errors	ENST00000396373	ensembl	human	known	74_37	silent	23.33	23	7	SNP	0.914	T	T	12022497	C	T	12022497	2	4	163	1	0	0	0	0	0	0	0	1	5299	842	30	3		3	ETV6	12	12022497	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	3096541	12022497	121829398	224	41429											
PDE6H	5149	genome.wustl.edu	37	chr12	15131010	15131010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctaccaccccacgcaaaGgccctcccaagttcaagcag	11	5	7	18	1	1	0	1	0	0	0	3	0	3	0	6	1	2	3	6	1	4	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:15131010G>T	ENST00000266395.2	+	2	170	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	22	Arg/Lys-rich (basic).				activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|lung(6)|ovary(1)|skin(2)	10					Sildenafil(DB00203)|Vardenafil(DB00862)	CCCACGCAAAGGCCCTCCCAA	0.493																																																	0													59	55	56					12																	15131010		2203	4300	6503	SO:0001583	missense	0				CCDS8672.1	12p13	2008-03-18					3.1.4.17	"Phosphodiesterases"	8790	protein-coding gene	gene with protein product		601190				8786098	Standard	NM_006205		Approved		uc001rcr.3	Q13956		ENST00000266395.2:c.64G>T	12.37:g.15131010G>T	ENSP00000266395:p.Gly22Cys		Q52LY7	Missense_Mutation	SNP	pfam_PDE6_gamma,pirsf_PDE6_gamma	p.G22C	ENST00000266395.2	37	c.64	CCDS8672.1	12	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700404	0.88924	.	.	ENSG00000139053	ENST00000266395	T	0.63417	-0.04	5.18	5.18	0.71444	.	0.054225	0.64402	D	0.000001	T	0.78233	0.4251	.	.	.	0.80722	D	1	D	0.57899	0.981	D	0.63703	0.917	T	0.80876	-0.1186	9	0.87932	D	0	.	16.2338	0.82360	0.0:0.0:1.0:0.0	.	22	Q13956	CNCG_HUMAN	C	22	ENSP00000266395:G22C	ENSP00000266395:G22C	G	+	1	0	PDE6H	15022277	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.107000	0.94261	2.686000	0.91538	0.655000	0.94253	GGC	PDE6H	-	pfam_PDE6_gamma,pirsf_PDE6_gamma	ENSG00000139053		0.493	PDE6H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6H	HGNC	protein_coding	OTTHUMT00000400880.1	-	0	56	0	G			15131010	1	tier1	-	no_errors	ENST00000266395	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	15131010	G	T	15131010	3	4	163	1	0	0	0	0	1	0	0	0	11689	1000	35	3	66	3	PDE6H	12	15131010	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	3108513	15131010	118720885	225	41430											
KRT6C	286887	genome.wustl.edu	37	chr12	52865895	52865895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcatgtttctcagctccGagtccaggcggccccgttcc	4	10	10	17	3	1	0	1	0	1	0	5	1	4	0	6	2	2	4	6	2	0	2	rs533243700		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:52865895G>A	ENST00000252250.6	-	2	757	c.710C>T	c.(709-711)tCg>tTg	p.S237L		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	237	Coil 1B.|Rod.				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)		TCTCAGCTCCGAGTCCAGGCG	0.572																																																	0													132	95	108					12																	52865895		2203	4300	6503	SO:0001583	missense	0			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.710C>T	12.37:g.52865895G>A	ENSP00000252250:p.Ser237Leu		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S237L	ENST00000252250.6	37	c.710	CCDS8829.1	12	.	.	.	.	.	.	.	.	.	.	G	13.98	2.400331	0.42613	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.86627	-2.15	2.89	2.89	0.33648	Filament (1);	0.000000	0.49305	D	0.000159	D	0.83385	0.5243	M	0.63169	1.94	0.25002	N	0.991466	P	0.36392	0.551	B	0.33799	0.17	T	0.79281	-0.1868	10	0.66056	D	0.02	.	11.7736	0.51972	0.0:0.3419:0.6581:0.0	.	237	P48668	K2C6C_HUMAN	L	237;222	ENSP00000252250:S237L	ENSP00000252250:S237L	S	-	2	0	KRT6C	51152162	0.001000	0.12720	0.947000	0.38551	0.270000	0.26580	0.896000	0.28377	1.907000	0.55213	0.407000	0.27541	TCG	KRT6C	-	pfam_IF	ENSG00000170465		0.572	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	HGNC	protein_coding	OTTHUMT00000404976.1	-	0	108	0	G	NM_173086		52865895	-1	tier1	-	no_errors	ENST00000252250	ensembl	human	known	74_37	missense	33.93	37	19	SNP	0.638	A	A	52865895	G	A	52865895	3	1	163	1	0	0	0	0	1	0	0	0	8509	1059	37	1	1016	1	KRT6C	12	52865895	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	37734885	52865895	80986000	226	41431											
NPFF	8620	genome.wustl.edu	37	chr12	53901175	53901175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcggagagctggtcttcCtgctggcctcctggcccttc	3	10	12	16	2	1	1	0	0	1	1	4	2	3	1	5	4	2	2	5	4	0	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:53901175C>T	ENST00000267017.3	-	1	247	c.84G>A	c.(82-84)caG>caA	p.Q28Q	NPFF_ENST00000609999.1_5'UTR|RP11-793H13.10_ENST00000591834.1_Intron	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	28					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						GCTGGTCTTCCTGCTGGCCTC	0.572																																																	0													126	117	120					12																	53901175		2203	4300	6503	SO:0001819	synonymous_variant	0			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.84G>A	12.37:g.53901175C>T			Q3SXL4	Silent	SNP	pirsf_FMRFamid-related_peptide,prints_FMRFamid-related_peptide	p.Q28	ENST00000267017.3	37	c.84	CCDS8862.1	12																																																																																			NPFF	-	pirsf_FMRFamid-related_peptide,prints_FMRFamid-related_peptide	ENSG00000139574		0.572	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPFF	HGNC	protein_coding	OTTHUMT00000406301.1	-	0	52	0	C	NM_003717		53901175	-1	tier1	-	no_errors	ENST00000267017	ensembl	human	known	74_37	silent	22.73	17	5	SNP	0.000	T	T	53901175	C	T	53901175	2	4	163	1	0	0	0	0	0	0	0	1	10615	680	24	3		3	NPFF	12	53901175	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	1035280	53901175	79950720	227	41432											
KIF5A	3798	genome.wustl.edu	37	chr12	57957931	57957931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgggaatcattcctcGaattgcccgagacatcttca	10	11	9	11	2	3	2	2	1	1	1	5	5	4	3	2	1	1	1	2	1	2	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:57957931G>T	ENST00000455537.2	+	4	606	c.332G>T	c.(331-333)cGa>cTa	p.R111L	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	111	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)	p.R111Q(1)|p.R111L(1)		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						ATCATTCCTCGAATTGCCCGA	0.527																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)											108	91	96					12																	57957931		2203	4300	6503	SO:0001583	missense	0			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.332G>T	12.37:g.57957931G>T	ENSP00000408979:p.Arg111Leu		A6H8M5|Q4LE26	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R111L	ENST00000455537.2	37	c.332	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.399334	0.96030	.	.	ENSG00000155980	ENST00000455537	T	0.74421	-0.84	4.87	4.87	0.63330	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88921	0.3366	10	0.87932	D	0	.	17.3316	0.87265	0.0:0.0:1.0:0.0	.	111	Q12840	KIF5A_HUMAN	L	111	ENSP00000408979:R111L	ENSP00000408979:R111L	R	+	2	0	KIF5A	56244198	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.431000	0.97494	2.691000	0.91804	0.655000	0.94253	CGA	KIF5A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000155980		0.527	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1		0	37	0	G	NM_004984		57957931	1			no_errors	ENST00000455537	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	T	T	57957931	G	T	57957931	3	4	163	1	0	0	0	0	1	0	0	0	8332	1058	37	2	346	2	KIF5A	12	57957931	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	4056756	57957931	75893964	228	41433											
CTDSP2	10106	genome.wustl.edu	37	chr12	58217849	58217849	+	Frame_Shift_Del	DEL	C	C	-																															aacaccccacaccggtccagCaggtctgtcacagggtcggc																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:58217849delC	ENST00000398073.2	-	7	831	c.528delG	c.(526-528)ctgfs	p.L177fs	CTDSP2_ENST00000548823.1_Intron|MIR26A2_ENST00000385054.1_RNA|CTDSP2_ENST00000547701.1_Frame_Shift_Del_p.L25fs	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	177	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					ACCGGTCCAGCAGGTCTGTCA	0.597																																																	0													26	31	30					12																	58217849		2033	4191	6224	SO:0001589	frameshift_variant	0			AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	17077	protein-coding gene	gene with protein product	"conserved gene amplified in osteosarcoma", "nuclear LIM interactor-interacting factor 2", "NLI-interacting factor 2", "small CTD phosphatase 2"	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.528delG	12.37:g.58217849delC	ENSP00000381148:p.Leu177fs		A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Frame_Shift_Del	DEL	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.L177fs	ENST00000398073.2	37	c.528	CCDS41801.1	12																																																																																			CTDSP2	-	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	ENSG00000175215		0.597	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSP2	HGNC	protein_coding	OTTHUMT00000409353.1		0	52	0	C	NM_005730		58217849	-1	tier1		no_errors	ENST00000398073	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	1.000	-	-	58217849	C	-	58217849	7	5	163	1	0	1	0	1	0	0	0	0	4013	697	25	0	295	0	CTDSP2	12	58217849	Frame_Shift_Del	DEL	C	TCGA-VR-A8EQ-01A-11D-A36J-09	259918	58217849	75634046	229	41434											
TRHDE	29953	genome.wustl.edu	37	chr12	72667155	72667155	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctggccgaggaccgggcGttcggggctgtccctgtagc	4	7	17	13	4	0	0	0	0	0	0	2	2	1	1	3	5	2	4	3	5	1	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:72667155G>T	ENST00000261180.4	+	1	693	c.597G>T	c.(595-597)gcG>gcT	p.A199A	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	199					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						AGGACCGGGCGTTCGGGGCTG	0.607																																																	0													48	52	51					12																	72667155		2203	4300	6503	SO:0001819	synonymous_variant	0			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.597G>T	12.37:g.72667155G>T			A5PL19|Q6UWJ4	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.A199	ENST00000261180.4	37	c.597	CCDS9004.1	12																																																																																			TRHDE	-	pfam_Peptidase_M1_N	ENSG00000072657		0.607	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1		0	102	0	G	NM_013381		72667155	1			no_errors	ENST00000261180	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.004	T	T	72667155	G	T	72667155	2	4	163	1	0	0	0	0	0	0	0	1	16527	1132	40	2		2	TRHDE	12	72667155	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	14449306	72667155	61184740	230	41435											
PPFIA2	8499	genome.wustl.edu	37	chr12	81657028	81657028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatctgttgtcatttttcTtgactgcccagaggttgtgg	6	16	10	9	0	3	2	1	1	2	1	3	2	3	2	2	2	1	2	2	2	0	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:81657028T>C	ENST00000549396.1	-	31	3857	c.3697A>G	c.(3697-3699)Aga>Gga	p.R1233G	PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1227G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R1128G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R1132G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R769G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R419G|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R1233G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1218G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1221G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1212G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R1080G	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	1233					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						GTCATTTTTCTTGACTGCCCA	0.423																																																	0													116	107	110					12																	81657028		1910	4141	6051	SO:0001583	missense	0			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.3697A>G	12.37:g.81657028T>C	ENSP00000450337:p.Arg1233Gly		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R1233G	ENST00000549396.1	37	c.3697	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690408	0.48097	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.33216	2.15;2.18;1.84;1.42;1.83;2.19;2.15;1.82;2.16	5.08	2.72	0.32119	.	0.122567	0.53938	D	0.000041	T	0.25827	0.0629	L	0.42245	1.32	0.53005	D	0.999968	B	0.27229	0.172	B	0.22386	0.039	T	0.11767	-1.0574	10	0.87932	D	0	-15.1309	12.0462	0.53480	0.0:0.0:0.6105:0.3895	.	1233	O75334	LIPA2_HUMAN	G	1233;1218;769;419;1132;1246;1221;1227;1128;1212	ENSP00000450337:R1233G;ENSP00000450298:R1218G;ENSP00000438337:R769G;ENSP00000445532:R419G;ENSP00000385093:R1132G;ENSP00000327416:R1221G;ENSP00000449338:R1227G;ENSP00000388373:R1128G;ENSP00000447868:R1212G	ENSP00000327416:R1221G	R	-	1	2	PPFIA2	80181159	0.995000	0.38212	0.945000	0.38365	0.947000	0.59692	2.404000	0.44539	0.750000	0.32877	0.528000	0.53228	AGA	PPFIA2	-	NULL	ENSG00000139220		0.423	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0	65	0	T			81657028	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.988	C	C	81657028	T	C	81657028	3	2	163	1	0	0	0	0	1	0	0	0	12349	1617	56	4	84	4	PPFIA2	12	81657028	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	8989873	81657028	52194867	231	41436											
CUX2	23316	genome.wustl.edu	37	chr12	111731320	111731320	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcctcccaggcattcccggGaaagccctcctgacagaaac	10	5	9	17	2	0	2	0	1	0	1	3	3	3	3	5	2	2	1	5	2	2	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:111731320G>A	ENST00000261726.6	+	6	661	c.507G>A	c.(505-507)ggG>ggA	p.G169G		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	169					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						GCATTCCCGGGAAAGCCCTCC	0.607																																																	0													31	41	38					12																	111731320		2046	4209	6255	SO:0001819	synonymous_variant	0			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.507G>A	12.37:g.111731320G>A			A7E2Y4	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.G169	ENST00000261726.6	37	c.507	CCDS41837.1	12																																																																																			CUX2	-	NULL	ENSG00000111249		0.607	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	-	0	90	0	G	NM_015267		111731320	1	tier1	-	no_errors	ENST00000261726	ensembl	human	known	74_37	silent	25.42	44	15	SNP	0.987	A	A	111731320	G	A	111731320	2	1	163	1	0	0	0	0	0	0	0	1	4074	1161	41	3		3	CUX2	12	111731320	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	30074292	111731320	22120575	232	41437											
CUX2	23316	genome.wustl.edu	37	chr12	111748306	111748306	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacacaacatcgggcagCgggtgtttgggcattacgtg	10	9	14	8	3	0	1	0	1	0	0	1	1	0	1	0	3	4	3	0	3	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:111748306C>A	ENST00000261726.6	+	15	1874	c.1720C>A	c.(1720-1722)Cgg>Agg	p.R574R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	574					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						CATCGGGCAGCGGGTGTTTGG	0.672																																																	0													71	83	79					12																	111748306		2157	4237	6394	SO:0001819	synonymous_variant	0			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.1720C>A	12.37:g.111748306C>A			A7E2Y4	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R574	ENST00000261726.6	37	c.1720	CCDS41837.1	12																																																																																			CUX2	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000111249		0.672	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	-	0	54	0	C	NM_015267		111748306	1	tier1	-	no_errors	ENST00000261726	ensembl	human	known	74_37	silent	17.78	37	8	SNP	1.000	A	A	111748306	C	A	111748306	2	1	163	1	0	0	0	0	0	0	0	1	4074	759	27	2		2	CUX2	12	111748306	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	16986	111748306	22103589	233	41438											
KNTC1	9735	genome.wustl.edu	37	chr12	123072328	123072328	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aatcttcaggaatctagccaGtgggagctagccctaagatt	12	10	10	9	0	3	1	1	0	2	1	3	3	3	3	2	2	3	1	2	2	5	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:123072328G>T	ENST00000333479.7	+	39	3978	c.3801G>T	c.(3799-3801)caG>caT	p.Q1267H	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1267					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)		AATCTAGCCAGTGGGAGCTAG	0.408																																																	0													116	106	109					12																	123072328		1856	4109	5965	SO:0001583	missense	0				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.3801G>T	12.37:g.123072328G>T	ENSP00000328236:p.Gln1267His		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.Q1267H	ENST00000333479.7	37	c.3801	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857543	0.71834	.	.	ENSG00000184445	ENST00000333479	T	0.18174	2.23	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.08166	-1.0735	10	0.46703	T	0.11	-15.5566	9.9675	0.41734	0.1563:0.0:0.8437:0.0	.	1267	P50748	KNTC1_HUMAN	H	1267	ENSP00000328236:Q1267H	ENSP00000328236:Q1267H	Q	+	3	2	KNTC1	121638281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.472000	0.45136	1.414000	0.47017	0.462000	0.41574	CAG	KNTC1	-	NULL	ENSG00000184445		0.408	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	-	0	92	0	G			123072328	1	tier1	-	no_errors	ENST00000333479	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	123072328	G	T	123072328	3	4	163	1	0	0	0	0	1	0	0	0	8455	1020	36	3	3951	3	KNTC1	12	123072328	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	11324022	123072328	10779567	234	41439											
NCOR2	9612	genome.wustl.edu	37	chr12	124887093	124887094	+	In_Frame_Ins	INS	-	-	TGT																															gctgctgctgctgctgctgcINStgttgttgctgctgctgtca																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:124887093_124887094insTGT	ENST00000405201.1	-	14	1496_1497	c.1496_1497insACA	c.(1495-1497)cag>caACAg	p.499_499Q>QQ	NCOR2_ENST00000429285.2_In_Frame_Ins_p.498_498Q>QQ|NCOR2_ENST00000356219.3_In_Frame_Ins_p.499_499Q>QQ|NCOR2_ENST00000404121.2_In_Frame_Ins_p.69_69Q>QQ|NCOR2_ENST00000397355.1_In_Frame_Ins_p.499_499Q>QQ|NCOR2_ENST00000404621.1_In_Frame_Ins_p.498_498Q>QQ			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgctg	0.619																																																	9	Substitution - coding silent(9)	endometrium(4)|large_intestine(3)|kidney(2)																																								SO:0001652	inframe_insertion	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1494_1496dupACA	12.37:g.124887097_124887099dupTGT	ENSP00000384018:p.Gln510dup		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.503in_frame_insQ	ENST00000405201.1	37	c.1497_1496	CCDS41858.2	12																																																																																			NCOR2	-	NULL	ENSG00000196498		0.619	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2		0	26	0	-	NM_006312		124887094	-1	tier1		no_errors	ENST00000356219	ensembl	human	known	74_37	in_frame_ins	10.53	17	2	INS	0.999:0.999	TGT	TGT	124887094	-	TGT	124887093	7	5	163	1	0	1	1	0	0	0	0	0	10275	796	28	0	6207	0	NCOR2	12	124887093	In_Frame_Ins	INS	-	TCGA-VR-A8EQ-01A-11D-A36J-09	1814765	124887093	8964802	235	41440											
TMEM132B	114795	genome.wustl.edu	37	chr12	125834009	125834009	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgtgcagtgacagagagtCgagggattgtggatagcctg	9	10	16	6	1	0	2	0	1	0	1	1	6	0	4	1	2	2	1	1	2	1	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr12:125834009C>T	ENST00000299308.3	+	2	72	c.64C>T	c.(64-66)Cga>Tga	p.R22*	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	22						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)		GACAGAGAGTCGAGGGATTGT	0.468																																																	0													111	108	109					12																	125834009		1930	4150	6080	SO:0001587	stop_gained	0			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.64C>T	12.37:g.125834009C>T	ENSP00000299308:p.Arg22*		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Nonsense_Mutation	SNP	NULL	p.R22*	ENST00000299308.3	37	c.64	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213103	0.79352	.	.	ENSG00000139364	ENST00000299308	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5841	0.95484	0.0:1.0:0.0:0.0	.	.	.	.	X	22	.	ENSP00000299308:R22X	R	+	1	2	TMEM132B	124399962	1.000000	0.71417	0.114000	0.21550	0.068000	0.16541	4.638000	0.61353	2.604000	0.88044	0.655000	0.94253	CGA	TMEM132B	-	NULL	ENSG00000139364		0.468	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	-	0	65	0	C	NM_052907		125834009	1	tier1	-	no_errors	ENST00000299308	ensembl	human	known	74_37	nonsense	36.11	23	13	SNP	1.000	T	T	125834009	C	T	125834009	4	4	163	1	0	0	0	0	0	1	0	0	16093	876	31	1	70	1	TMEM132B	12	125834009	Nonsense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	946916	125834009	8017886	236	41441											
RNF17	56163	genome.wustl.edu	37	chr13	25436917	25436917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctttcaaagagacaggtgGacattcacattatggtaatt	13	13	9	6	0	2	1	2	0	0	1	2	3	2	2	0	3	1	2	0	3	3	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr13:25436917G>T	ENST00000255324.5	+	28	4013	c.3961G>T	c.(3961-3963)Gac>Tac	p.D1321Y	RNF17_ENST00000381921.1_Missense_Mutation_p.D1321Y|RNF17_ENST00000339524.3_Missense_Mutation_p.D373Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1321					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)		GAGACAGGTGGACATTCACAT	0.284																																																	0													85	96	92					13																	25436917		2203	4299	6502	SO:0001583	missense	0			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.3961G>T	13.37:g.25436917G>T	ENSP00000255324:p.Asp1321Tyr		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.D1321Y	ENST00000255324.5	37	c.3961	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529828	0.45073	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.23552	3.47;3.46;2.7;1.9	6.17	4.43	0.53597	.	0.304259	0.28914	N	0.013726	T	0.25121	0.0610	L	0.29908	0.895	0.80722	D	1	B;P	0.43662	0.357;0.814	B;P	0.49502	0.326;0.613	T	0.02553	-1.1142	10	0.54805	T	0.06	-4.6873	7.31	0.26469	0.141:0.1467:0.7123:0.0	.	373;1321	Q5T6R1;Q9BXT8	.;RNF17_HUMAN	Y	1321;1321;645;373	ENSP00000255324:D1321Y;ENSP00000371346:D1321Y;ENSP00000388892:D645Y;ENSP00000344776:D373Y	ENSP00000255324:D1321Y	D	+	1	0	RNF17	24334917	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	2.533000	0.45667	1.616000	0.50265	0.655000	0.94253	GAC	RNF17	-	NULL	ENSG00000132972		0.284	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1		0	196	0	G	NM_031994		25436917	1			no_errors	ENST00000255324	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	25436917	G	T	25436917	3	4	163	1	0	0	0	0	1	0	0	0	13506	1174	41	3	4071	3	RNF17	13	25436917	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		25436917	89732961	237	41442											
PDX1	3651	genome.wustl.edu	37	chr13	28498435	28498435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagaacaagcggacgcGcacggcctacacgcgcgcac	11	1	15	14	7	0	1	0	0	0	1	0	4	0	3	1	4	3	2	1	4	3	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr13:28498435G>A	ENST00000381033.4	+	2	568	c.449G>A	c.(448-450)cGc>cAc	p.R150H	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	0	Pro-rich.				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)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		AAGCGGACGCGCACGGCCTAC	0.682																																																	0													29	32	31					13																	28498435		2203	4300	6503	SO:0001583	missense	0			AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"Homeoboxes / ANTP class : HOXL subclass"	6107	protein-coding gene	gene with protein product	"somatostatin transcription factor 1"	600733	"insulin promoter factor 1, homeodomain transcription factor"	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.449G>A	13.37:g.28498435G>A	ENSP00000370421:p.Arg150His		B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.R150H	ENST00000381033.4	37	c.449	CCDS9327.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.566215	0.96540	.	.	ENSG00000139515	ENST00000381033	D	0.99167	-5.51	5.01	5.01	0.66863	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	H	0.99764	4.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96917	0.9671	10	0.87932	D	0	.	18.6704	0.91508	0.0:0.0:1.0:0.0	.	150	P52945	PDX1_HUMAN	H	150	ENSP00000370421:R150H	ENSP00000370421:R150H	R	+	2	0	PDX1	27396435	1.000000	0.71417	0.978000	0.43139	0.955000	0.61496	7.934000	0.87649	2.474000	0.83562	0.561000	0.74099	CGC	PDX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_antennapedia	ENSG00000139515		0.682	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDX1	HGNC	protein_coding	OTTHUMT00000044310.2	-	0	49	0	G	NM_000209		28498435	1	tier1	-	no_errors	ENST00000381033	ensembl	human	known	74_37	missense	19.05	16	4	SNP	1.000	A	A	28498435	G	A	28498435	3	1	163	1	0	0	0	0	1	0	0	0	11734	1087	38	1	455	1	PDX1	13	28498435	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	3061518	28498435	86671443	238	41443											
MAB21L1	4081	genome.wustl.edu	37	chr13	36050159	36050159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacttccttcagtacgtcGgaaactactttgcagacttc	9	13	6	13	2	1	1	1	0	0	1	5	2	3	2	2	1	4	2	2	1	3	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr13:36050159G>A	ENST00000379919.4	-	1	673	c.117C>T	c.(115-117)tcC>tcT	p.S39S	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	39					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TCAGTACGTCGGAAACTACTT	0.517																																																	0													104	105	105					13																	36050159		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.117C>T	13.37:g.36050159G>A			Q6I9T5	Silent	SNP	pfam_Mab-21_dom	p.S39	ENST00000379919.4	37	c.117	CCDS9353.1	13																																																																																			MAB21L1	-	pfam_Mab-21_dom	ENSG00000180660		0.517	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	-	0	44	0	G	NM_005584		36050159	-1	tier1	-	no_errors	ENST00000379919	ensembl	human	known	74_37	silent	39.29	17	11	SNP	1.000	A	A	36050159	G	A	36050159	2	1	163	1	0	0	0	0	0	0	0	1	9177	1103	39	1		1	MAB21L1	13	36050159	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	7551724	36050159	79119719	239	41444											
PCDH20	64881	genome.wustl.edu	37	chr13	61986010	61986010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagactgaggaaacaaaacaAgaggagggttgtcattgata	17	8	12	4	0	1	4	1	2	0	2	1	6	1	6	0	3	2	1	0	3	6	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr13:61986010A>G	ENST00000409186.1	-	5	4327	c.2222T>C	c.(2221-2223)cTt>cCt	p.L741P	PCDH20_ENST00000409204.4_Missense_Mutation_p.L741P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	741	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)			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)		AAACAAAACAAGAGGAGGGTT	0.448																																																	0													113	118	117					13																	61986010		2203	4300	6503	SO:0001583	missense	0			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.2222T>C	13.37:g.61986010A>G	ENSP00000386653:p.Leu741Pro		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L741P	ENST00000409186.1	37	c.2222	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205280	0.39003	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01963	4.53;4.53	5.94	5.94	0.96194	.	0.116020	0.36167	N	0.002755	T	0.05456	0.0144	M	0.64404	1.975	0.80722	D	1	P	0.51653	0.947	P	0.44597	0.454	T	0.19192	-1.0313	10	0.62326	D	0.03	.	16.3908	0.83537	1.0:0.0:0.0:0.0	.	741	A8K1K9	.	P	741;741;487	ENSP00000387250:L741P;ENSP00000386653:L741P	ENSP00000351500:L487P	L	-	2	0	PCDH20	60884011	1.000000	0.71417	0.998000	0.56505	0.764000	0.43329	6.141000	0.71744	2.269000	0.75478	0.455000	0.32223	CTT	PCDH20	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000197991		0.448	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	-	0	20	0	A	NM_022843		61986010	-1	tier1	-	no_errors	ENST00000409186	ensembl	human	known	74_37	missense	31.25	11	5	SNP	0.990	G	G	61986010	A	G	61986010	3	3	163	1	0	0	0	0	1	0	0	0	11554	72	3	4	637	4	PCDH20	13	61986010	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	25935851	61986010	53183868	240	41445											
SLC10A2	6555	genome.wustl.edu	37	chr13	103718237	103718237	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctcaggtccatgtcGccatcgacccaataggccaa	10	9	7	15	2	2	0	1	0	1	0	5	1	3	0	5	2	1	0	5	2	4	2	rs143992162	byFrequency	TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr13:103718237G>T	ENST00000245312.3	-	1	959	c.363C>A	c.(361-363)ggC>ggA	p.G121G		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	121					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)	p.G121G(1)		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)	GGTCCATGTCGCCATCGACCC	0.493																																																	1	Substitution - coding silent(1)	large_intestine(1)											79	75	76					13																	103718237		2203	4300	6503	SO:0001819	synonymous_variant	0			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.363C>A	13.37:g.103718237G>T			A1L4F4|Q13839	Silent	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.G121	ENST00000245312.3	37	c.363	CCDS9506.1	13																																																																																			SLC10A2	-	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	ENSG00000125255		0.493	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A2	HGNC	protein_coding	OTTHUMT00000045716.1		0	41	0	G			103718237	-1			no_errors	ENST00000245312	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.008	T	T	103718237	G	T	103718237	2	4	163	1	0	0	0	0	0	0	0	1	14419	1074	38	2		2	SLC10A2	13	103718237	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	41732227	103718237	11451641	241	41446											
OR4Q3	441669	genome.wustl.edu	37	chr14	20216438	20216438	+	Frame_Shift_Del	DEL	C	C	-																															gtgattacacctatgttgaaCcccctcatctacacactcag																										TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr14:20216438delC	ENST00000331723.1	+	1	852	c.852delC	c.(850-852)aacfs	p.N284fs		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGTTGAACCCCCTCATCT	0.413																																																	0													118	118	118					14																	20216438		2203	4299	6502	SO:0001589	frameshift_variant	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.852delC	14.37:g.20216438delC	ENSP00000330049:p.Asn284fs		Q6IEX4	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L286fs	ENST00000331723.1	37	c.852	CCDS32020.1	14																																																																																			OR4Q3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000182652		0.413	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	HGNC	protein_coding	OTTHUMT00000409818.2		0	20	0	C			20216438	1	tier1		no_errors	ENST00000331723	ensembl	human	known	74_37	frame_shift_del	14.29	18	3	DEL	0.999	-	-	20216438	C	-	20216438	7	5	163	1	0	1	0	1	0	0	0	0	11120	506	18	0	854	0	OR4Q3	14	20216438	Frame_Shift_Del	DEL	C	TCGA-VR-A8EQ-01A-11D-A36J-09		20216438	87133102	242	41447											
OR4K2	390431	genome.wustl.edu	37	chr14	20344520	20344520	+	Missense_Mutation	SNP	T	T	G	0	1	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	tgtttttctttatggtgtttTcattgctttatgtggcaaca	6	22	8	5	0	2	0	1	0	1	0	2	0	2	0	0	2	2	4	0	2	3	9			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr14:20344520T>G	ENST00000298642.2	+	1	130	c.94T>G	c.(94-96)Tca>Gca	p.S32A		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	32						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)		TATGGTGTTTTCATTGCTTTA	0.418																																																	0													297	306	303					14																	20344520		2203	4300	6503	SO:0001583	missense	0				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.94T>G	14.37:g.20344520T>G	ENSP00000298642:p.Ser32Ala		B2RNK8|Q6IFA5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S32A	ENST00000298642.2	37	c.94	CCDS32023.1	14	.	.	.	.	.	.	.	.	.	.	.	15.68	2.903669	0.52333	.	.	ENSG00000165762	ENST00000298642	T	0.00574	6.47	5.4	5.4	0.78164	.	0.166592	0.28549	N	0.014941	T	0.00695	0.0023	L	0.58428	1.81	0.27802	N	0.942466	P	0.34997	0.479	B	0.31390	0.129	T	0.47433	-0.9118	10	0.29301	T	0.29	.	7.9061	0.29763	0.0:0.0894:0.0:0.9106	.	32	Q8NGD2	OR4K2_HUMAN	A	32	ENSP00000298642:S32A	ENSP00000298642:S32A	S	+	1	0	OR4K2	19414360	0.000000	0.05858	0.996000	0.52242	0.993000	0.82548	0.013000	0.13310	2.265000	0.75225	0.533000	0.62120	TCA	OR4K2	-	prints_GPCR_Rhodpsn	ENSG00000165762		0.418	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K2	HGNC	protein_coding	OTTHUMT00000409864.1	-	0	75	0	T			20344520	1	tier1	-	no_errors	ENST00000298642	ensembl	human	known	74_37	missense	26.23	45	16	SNP	0.989	G	G	20344520	T	G	20344520	3	3	163	1	0	0	0	0	1	0	0	0	11111	1783	62	4	96	4	OR4K2	14	20344520	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	128082	20344520	87005020	243	41448											
CDH24	64403	genome.wustl.edu	37	chr14	23518387	23518387	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtggcagtgctgctcagCgccggctgcccccagtccca	5	7	12	17	2	1	0	1	0	0	0	2	0	2	0	4	2	4	4	4	2	0	0	rs555921275		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr14:23518387C>T	ENST00000267383.5	-	11	1901	c.1809G>A	c.(1807-1809)gcG>gcA	p.A603A	CDH24_ENST00000487137.2_Silent_p.A565A|CDH24_ENST00000554034.1_Silent_p.A565A|CDH24_ENST00000397359.3_Silent_p.A603A|CDH24_ENST00000485922.1_5'UTR			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	603	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	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)		TGCTGCTCAGCGCCGGCTGCC	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		16386	0		0	False		,,,				2504	0																0													15	16	16					14																	23518387		2195	4289	6484	SO:0001819	synonymous_variant	0			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.1809G>A	14.37:g.23518387C>T			D3DS44|Q86UP1|Q9NT84	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A603	ENST00000267383.5	37	c.1809	CCDS9585.1	14																																																																																			CDH24	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000139880		0.672	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	HGNC	protein_coding	OTTHUMT00000257241.2		0	12	0	C	NM_022478		23518387	-1			no_errors	ENST00000267383	ensembl	human	known	74_37	silent	42.86	4	3	SNP	0.001	T	T	23518387	C	T	23518387	2	4	163	1	0	0	0	0	0	0	0	1	3116	755	27	1		1	CDH24	14	23518387	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	3173867	23518387	83831153	244	41449											
INSM2	84684	genome.wustl.edu	37	chr14	36004316	36004316	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccgctgctcccgcatCgtgcgcgtagagtaccgctg	6	7	12	16	6	0	1	0	0	0	1	2	1	1	1	3	0	4	7	3	0	2	2	rs540516375		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr14:36004316C>A	ENST00000307169.3	+	1	1069	c.858C>A	c.(856-858)atC>atA	p.I286I		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	286					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)	p.I286I(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCTCCCGCATCGTGCGCGTAG	0.677													C|||	1	0.000199681	8e-04	0	5008	,	,		15481	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	lung(1)											31	32	32					14																	36004316		2203	4298	6501	SO:0001819	synonymous_variant	0			AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"Zinc fingers, C2H2-type"	17539	protein-coding gene	gene with protein product	"mlt 1"	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.858C>A	14.37:g.36004316C>A			A1L432|J9Y024|Q8N8K7|Q96Q84	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I286	ENST00000307169.3	37	c.858	CCDS9657.1	14																																																																																			INSM2	-	NULL	ENSG00000168348		0.677	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSM2	HGNC	protein_coding	OTTHUMT00000276686.1		0	86	0	C			36004316	1			no_errors	ENST00000307169	ensembl	human	known	74_37	silent	6.38	44	3	SNP	1.000	A	A	36004316	C	A	36004316	2	1	163	1	0	0	0	0	0	0	0	1	7799	874	31	2		2	INSM2	14	36004316	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	12485929	36004316	71345224	245	41450											
FSCB	84075	genome.wustl.edu	37	chr14	44974802	44974802	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctcttctgcagtggtctcTttaggtaatggagactgaaa	9	13	11	8	0	3	2	0	1	3	1	4	3	3	2	1	3	1	2	1	3	3	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr14:44974802T>C	ENST00000340446.4	-	1	1680	c.1389A>G	c.(1387-1389)aaA>aaG	p.K463K	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	463						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)		CAGTGGTCTCTTTAGGTAATG	0.512																																																	0													26	26	26					14																	44974802		2202	4300	6502	SO:0001819	synonymous_variant	0			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.1389A>G	14.37:g.44974802T>C			Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	NULL	p.K463	ENST00000340446.4	37	c.1389	CCDS9679.1	14																																																																																			FSCB	-	NULL	ENSG00000189139		0.512	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1	-	0	45	0	T	NM_032135		44974802	-1	tier1	-	no_errors	ENST00000340446	ensembl	human	known	74_37	silent	30.43	16	7	SNP	0.002	C	C	44974802	T	C	44974802	2	2	163	1	0	0	0	0	0	0	0	1	6090	1606	56	4		4	FSCB	14	44974802	Silent	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	8970486	44974802	62374738	246	41451											
TOMM20L	387990	genome.wustl.edu	37	chr14	58875294	58875294	+	Silent	SNP	T	T	A	0	1	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	gactgcttggaggatgatccTgattgaaaaacatttcaacg	13	11	10	7	1	1	3	1	3	0	0	2	6	2	5	1	2	3	1	1	2	3	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr14:58875294T>A	ENST00000360945.2	+	5	495	c.453T>A	c.(451-453)ccT>ccA	p.P151P	TIMM9_ENST00000216463.4_5'Flank|TIMM9_ENST00000395159.2_3'UTR|RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	151					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)				large_intestine(2)|lung(2)	4						AGGATGATCCTGATTGAAAAA	0.353																																																	0													135	122	127					14																	58875294		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"translocase of outer mitochondrial membrane 20 homolog type I"					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.453T>A	14.37:g.58875294T>A			B2RPR0	Silent	SNP	pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related	p.P151	ENST00000360945.2	37	c.453	CCDS9734.1	14																																																																																			TOMM20L	-	superfamily_Tom20_dom,pirsf_MAS20_rcpt-related	ENSG00000196860		0.353	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM20L	HGNC	protein_coding	OTTHUMT00000276937.1		0	71	0	T	NM_207377		58875294	1			no_errors	ENST00000360945	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.151	A	A	58875294	T	A	58875294	2	1	163	1	0	0	0	0	0	0	0	1	16402	1567	55	5		5	TOMM20L	14	58875294	Silent	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	13900492	58875294	48474246	247	41452											
SNAPC1	6617	genome.wustl.edu	37	chr14	62248986	62248986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccaaatcaagaaggcatCgtcaagtcaaactcgactct	15	8	6	12	2	4	1	3	0	1	1	7	2	5	1	1	1	1	1	1	1	5	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr14:62248986C>T	ENST00000216294.4	+	8	951	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	283					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)		AAGAAGGCATCGTCAAGTCAA	0.358																																					NSCLC(27;223 907 37180 39193 46568)												0													97	91	93					14																	62248986		2203	4300	6503	SO:0001583	missense	0			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.847C>T	14.37:g.62248986C>T	ENSP00000216294:p.Arg283Cys			Missense_Mutation	SNP	pfam_SNAPc_SNAP43	p.R283C	ENST00000216294.4	37	c.847	CCDS9755.1	14	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345176	0.82022	.	.	ENSG00000023608	ENST00000216294	.	.	.	6.06	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80999	-0.1131	9	0.87932	D	0	-2.6695	16.6144	0.84903	0.1311:0.8689:0.0:0.0	.	283	Q16533	SNPC1_HUMAN	C	283	.	ENSP00000216294:R283C	R	+	1	0	SNAPC1	61318739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.782000	0.62396	1.524000	0.49035	0.655000	0.94253	CGT	SNAPC1	-	NULL	ENSG00000023608		0.358	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC1	HGNC	protein_coding	OTTHUMT00000276976.2	-	0	42	0	C	NM_003082		62248986	1	tier1	-	no_errors	ENST00000216294	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T	T	62248986	C	T	62248986	3	4	163	1	0	0	0	0	1	0	0	0	14879	884	31	1	877	1	SNAPC1	14	62248986	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	3373692	62248986	45100554	248	41453											
ARG2	384	genome.wustl.edu	37	chr14	68086728	68086728	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctctcgcgtctcctcCagacgcgagtgcattccatc	6	9	9	17	4	2	1	0	0	2	1	7	2	4	1	4	0	2	2	4	0	0	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr14:68086728C>T	ENST00000261783.3	+	1	214	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	ARG2_ENST00000556491.1_3'UTR|Y_RNA_ENST00000364659.1_RNA	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	12					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)	GCGTCTCCTCCAGACGCGAGT	0.617																																																	0													29	29	29					14																	68086728		2200	4295	6495	SO:0001587	stop_gained	0			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.34C>T	14.37:g.68086728C>T	ENSP00000261783:p.Gln12*		B2R690|Q6FHY8	Nonsense_Mutation	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	p.Q12*	ENST00000261783.3	37	c.34	CCDS9785.1	14	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293163	0.80914	.	.	ENSG00000081181	ENST00000261783	.	.	.	4.48	4.48	0.54585	.	0.347092	0.25416	N	0.030835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	9.8339	0.40958	0.2045:0.7954:0.0:0.0	.	.	.	.	X	12	.	ENSP00000261783:Q12X	Q	+	1	0	ARG2	67156481	0.079000	0.21365	0.013000	0.15412	0.036000	0.12997	2.570000	0.45981	2.321000	0.78463	0.561000	0.74099	CAG	ARG2	-	NULL	ENSG00000081181		0.617	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG2	HGNC	protein_coding	OTTHUMT00000415190.2	-	0	83	0	C	NM_001172		68086728	1	tier1	-	no_errors	ENST00000261783	ensembl	human	known	74_37	nonsense	40.38	31	21	SNP	0.007	T	T	68086728	C	T	68086728	4	4	163	1	0	0	0	0	0	1	0	0	858	595	21	3	36	3	ARG2	14	68086728	Nonsense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	5837742	68086728	39262812	249	41454											
FCF1	51077	genome.wustl.edu	37	chr14	75182772	75182772	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccaaactggacttagtgCagtcaatgatggactgtctg	12	10	11	8	0	2	1	1	1	1	0	2	3	2	3	1	2	3	1	1	2	4	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr14:75182772C>T	ENST00000341162.4	+	4	316	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	AREL1_ENST00000557401.1_5'Flank|AC007956.1_ENST00000338772.5_5'Flank|AREL1_ENST00000356357.4_5'Flank|FCF1_ENST00000534938.2_Nonsense_Mutation_p.Q76*|FCF1_ENST00000553615.1_Nonsense_Mutation_p.Q73*	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	88	PINc.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		GGACTTAGTGCAGTCAATGAT	0.353																																																	0													117	112	114					14																	75182772		2203	4300	6503	SO:0001587	stop_gained	0			AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 111", "FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.262C>T	14.37:g.75182772C>T	ENSP00000344393:p.Gln88*		Q86TW8|Q8TBL8	Nonsense_Mutation	SNP	pfam_Fcf1/Utp23,smart_PIN_dom	p.Q88*	ENST00000341162.4	37	c.262	CCDS9832.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.750395	0.96890	.	.	ENSG00000119616	ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	5.44	5.44	0.79542	.	0.047499	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4587	0.94906	0.0:1.0:0.0:0.0	.	.	.	.	X	88;76;73	.	ENSP00000344393:Q88X	Q	+	1	0	FCF1	74252525	1.000000	0.71417	0.923000	0.36655	0.991000	0.79684	7.548000	0.82154	2.828000	0.97474	0.655000	0.94253	CAG	FCF1	-	smart_PIN_dom	ENSG00000119616		0.353	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCF1	HGNC	protein_coding	OTTHUMT00000413622.1	-	0	26	0	C	NM_015962		75182772	1	tier1	-	no_errors	ENST00000341162	ensembl	human	known	74_37	nonsense	14.81	23	4	SNP	1.000	T	T	75182772	C	T	75182772	4	4	163	1	0	0	0	0	0	1	0	0	5799	711	25	3	276	3	FCF1	14	75182772	Nonsense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	7096044	75182772	32166768	250	41455											
SPTLC2	9517	genome.wustl.edu	37	chr14	78023429	78023429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaattttcttccagggccttCgtgtccgaggctgaccataa	8	12	10	11	2	1	1	0	1	1	0	4	3	3	1	4	2	0	1	4	2	2	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr14:78023429C>T	ENST00000216484.2	-	7	1104	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	SPTLC2_ENST00000556264.1_5'Flank	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	304					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)	CCAGGGCCTTCGTGTCCGAGG	0.408																																																	0													98	94	95					14																	78023429		2203	4300	6503	SO:0001583	missense	0			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.911G>A	14.37:g.78023429C>T	ENSP00000216484:p.Arg304Gln		Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.R304Q	ENST00000216484.2	37	c.911	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287852	0.59976	.	.	ENSG00000100596	ENST00000216484	D	0.95001	-3.58	5.05	5.05	0.67936	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.055507	0.64402	D	0.000001	D	0.92021	0.7472	M	0.69185	2.1	0.33603	D	0.60262	B	0.26975	0.165	B	0.20184	0.028	D	0.92830	0.6279	10	0.56958	D	0.05	-8.3325	9.5572	0.39346	0.0:0.8426:0.0:0.1574	.	304	O15270	SPTC2_HUMAN	Q	304	ENSP00000216484:R304Q	ENSP00000216484:R304Q	R	-	2	0	SPTLC2	77093182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.811000	0.62606	2.499000	0.84300	0.563000	0.77884	CGA	SPTLC2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000100596		0.408	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1	-	0	61	0	C	NM_004863		78023429	-1	tier1	-	no_errors	ENST00000216484	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	78023429	C	T	78023429	3	4	163	1	0	0	0	0	1	0	0	0	15171	884	31	1	801	1	SPTLC2	14	78023429	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	2840657	78023429	29326111	251	41456											
FLRT2	23768	genome.wustl.edu	37	chr14	86089254	86089254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtttagtagggggcatcGttcaggagcgcatagtcagc	10	9	14	8	2	2	0	2	0	0	0	3	1	2	1	0	3	2	5	0	3	3	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr14:86089254G>T	ENST00000330753.4	+	2	2163	c.1396G>T	c.(1396-1398)Gtt>Ttt	p.V466F	FLRT2_ENST00000554746.1_Missense_Mutation_p.V466F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	466	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		AGGGGGCATCGTTCAGGAGCG	0.498																																																	0													118	104	109					14																	86089254		2203	4300	6503	SO:0001583	missense	0			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.1396G>T	14.37:g.86089254G>T	ENSP00000332879:p.Val466Phe		A0AV84|B7ZLP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.V466F	ENST00000330753.4	37	c.1396	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074370	0.55646	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.57595	0.39;0.39	6.17	6.17	0.99709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.185726	0.45867	D	0.000339	T	0.43255	0.1239	L	0.29908	0.895	0.40469	D	0.980323	P	0.38992	0.653	B	0.36989	0.238	T	0.44174	-0.9345	10	0.54805	T	0.06	-17.768	14.9567	0.71120	0.0674:0.0:0.9326:0.0	.	466	O43155	FLRT2_HUMAN	F	466;466;119	ENSP00000332879:V466F;ENSP00000451050:V466F	ENSP00000332879:V466F	V	+	1	0	FLRT2	85159007	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	3.319000	0.51983	2.941000	0.99782	0.655000	0.94253	GTT	FLRT2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185070		0.498	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	-	0	74	0	G			86089254	1	tier1	-	no_errors	ENST00000330753	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.971	T	T	86089254	G	T	86089254	3	4	163	1	0	0	0	0	1	0	0	0	5961	1145	40	2	1398	2	FLRT2	14	86089254	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	8065825	86089254	21260286	252	41457											
PAK6	56924	genome.wustl.edu	37	chr15	40558217	40558217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcactgggccaccgacccaGacatgtacctccagagcccc	10	4	9	18	1	0	2	0	0	0	2	1	3	1	2	7	1	3	2	7	1	1	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr15:40558217G>C	ENST00000542403.2	+	3	490	c.379G>C	c.(379-381)Gac>Cac	p.D127H	PAK6_ENST00000560346.1_Missense_Mutation_p.D127H|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.D127H|PAK6_ENST00000260404.4_Missense_Mutation_p.D127H|PAK6_ENST00000455577.2_Missense_Mutation_p.D127H|PAK6_ENST00000453867.1_Missense_Mutation_p.D127H|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	127	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CACCGACCCAGACATGTACCT	0.687																																																	0													13	13	13					15																	40558217		2176	4267	6443	SO:0001583	missense	0			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.379G>C	15.37:g.40558217G>C	ENSP00000439597:p.Asp127His		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.D127H	ENST00000542403.2	37	c.379	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183895	0.78677	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74632	-0.83;-0.83;-0.86;-0.83;-0.83	5.39	4.41	0.53225	.	1.105250	0.06723	N	0.775337	T	0.72423	0.3458	N	0.19112	0.55	0.41450	D	0.987978	P;D	0.56035	0.956;0.974	P;P	0.53360	0.533;0.724	T	0.66972	-0.5788	10	0.66056	D	0.02	.	10.6714	0.45760	0.0:0.1423:0.7103:0.1474	.	127;127	Q9NQU5;G5E9R2	PAK6_HUMAN;.	H	127	ENSP00000406873:D127H;ENSP00000401153:D127H;ENSP00000409465:D127H;ENSP00000260404:D127H;ENSP00000439597:D127H	ENSP00000260404:D127H	D	+	1	0	PAK6	38345509	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	4.148000	0.58085	2.543000	0.85770	0.561000	0.74099	GAC	PAK6	-	NULL	ENSG00000137843		0.687	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	-	0	80	0	G			40558217	1	tier1	-	no_errors	ENST00000260404	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.991	C	C	40558217	G	C	40558217	3	2	163	1	0	0	0	0	1	0	0	0	11443	942	33	5	385	5	PAK6	15	40558217	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		40558217	61973175	253	41458											
MGA	23269	genome.wustl.edu	37	chr15	42042415	42042415	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgagcagttaattaaaGaaacaaagacatgtcaggaa	20	6	9	6	1	1	3	1	0	0	3	1	5	1	4	0	1	2	2	0	1	6	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr15:42042415G>T	ENST00000570161.1	+	16	6610	c.6610G>T	c.(6610-6612)Gaa>Taa	p.E2204*	MGA_ENST00000545763.1_Nonsense_Mutation_p.E1995*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E2165*|MGA_ENST00000219905.7_Nonsense_Mutation_p.E2204*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E1995*			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)	GTTAATTAAAGAAACAAAGAC	0.408																																																	0													138	135	136					15																	42042415		1858	4103	5961	SO:0001587	stop_gained	0			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.6610G>T	15.37:g.42042415G>T	ENSP00000457035:p.Glu2204*		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E2204*	ENST00000570161.1	37	c.6610	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	15.97	2.991161	0.54041	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	4.36	2.42	0.29668	.	1.910490	0.02601	N	0.101063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.2916	0.06950	0.0942:0.3224:0.4178:0.1656	.	.	.	.	X	2204;2165;1995	.	ENSP00000219905:E2204X	E	+	1	0	MGA	39829707	0.986000	0.35501	0.975000	0.42487	0.283000	0.27025	0.203000	0.17315	0.444000	0.26612	0.467000	0.42956	GAA	MGA	-	NULL	ENSG00000174197		0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1		0	66	0	G	NM_001164273.1		42042415	1			no_errors	ENST00000219905	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	0.008	T	T	42042415	G	T	42042415	4	4	163	1	0	0	0	0	0	1	0	0	9578	943	33	3	6672	3	MGA	15	42042415	Nonsense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1484198	42042415	60488977	254	41459											
UNC13C	440279	genome.wustl.edu	37	chr15	54792315	54792315	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgcaatggctagatgaaaAcgaagatgtgtcaatggaat	16	9	11	5	1	1	3	1	1	0	2	1	5	1	4	0	2	2	2	0	2	7	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr15:54792315A>C	ENST00000260323.11	+	20	5099	c.5099A>C	c.(5098-5100)aAc>aCc	p.N1700T	UNC13C_ENST00000537900.1_Missense_Mutation_p.N1698T|UNC13C_ENST00000545554.1_Missense_Mutation_p.N1700T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1700	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)		CTAGATGAAAACGAAGATGTG	0.343																																																	0													135	125	128					15																	54792315		1846	4101	5947	SO:0001583	missense	0			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.5099A>C	15.37:g.54792315A>C	ENSP00000260323:p.Asn1700Thr		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.N1700T	ENST00000260323.11	37	c.5099	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107053	0.77096	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79653	-1.29;-1.29;-1.29	5.5	5.5	0.81552	Munc13 homology 1 (1);	0.149727	0.64402	D	0.000019	D	0.89636	0.6772	M	0.83312	2.635	0.58432	D	0.999995	D	0.69078	0.997	D	0.77004	0.989	D	0.89228	0.3575	10	0.36615	T	0.2	.	15.0943	0.72220	1.0:0.0:0.0:0.0	.	1700	Q8NB66	UN13C_HUMAN	T	1700;1700;1698	ENSP00000260323:N1700T;ENSP00000438156:N1700T;ENSP00000442569:N1698T	ENSP00000260323:N1700T	N	+	2	0	UNC13C	52579607	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.165000	0.94761	2.216000	0.71823	0.533000	0.62120	AAC	UNC13C	-	NULL	ENSG00000137766		0.343	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	71	0	A	NM_173166		54792315	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	46.88	34	30	SNP	1.000	C	C	54792315	A	C	54792315	3	2	163	1	0	0	0	0	1	0	0	0	17035	43	2	4	5173	4	UNC13C	15	54792315	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	12749900	54792315	47739077	255	41460											
CILP	8483	genome.wustl.edu	37	chr15	65490736	65490736	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctgtggaaatattccGgggatccaggaaggtcacac	10	9	14	8	1	1	0	1	0	0	0	3	3	3	3	2	6	0	1	2	6	3	2	rs530704700		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr15:65490736G>T	ENST00000261883.4	-	9	2054	c.1888C>A	c.(1888-1890)Cgg>Agg	p.R630R		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	630					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GAAATATTCCGGGGATCCAGG	0.527																																																	0													155	153	154					15																	65490736		2202	4299	6501	SO:0001819	synonymous_variant	0			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1888C>A	15.37:g.65490736G>T			B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R630	ENST00000261883.4	37	c.1888	CCDS10203.1	15																																																																																			CILP	-	NULL	ENSG00000138615		0.527	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	-	0	88	0	G	NM_003613		65490736	-1	tier1	-	no_errors	ENST00000261883	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.995	T	T	65490736	G	T	65490736	2	4	163	1	0	0	0	0	0	0	0	1	3436	1115	39	2		2	CILP	15	65490736	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	10698421	65490736	37040656	256	41461											
SMAD3	4088	genome.wustl.edu	37	chr15	67473779	67473779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	atgcagcagtggagctgacaCggagacacatcggtatgggg	11	6	16	8	2	0	2	0	1	0	1	1	4	0	3	0	5	3	4	0	5	1	1	rs387906850		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr15:67473779C>T	ENST00000327367.4	+	6	1169	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	SMAD3_ENST00000439724.3_Missense_Mutation_p.R243W|SMAD3_ENST00000537194.2_Missense_Mutation_p.R92W|SMAD3_ENST00000540846.2_Missense_Mutation_p.R182W	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	287	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.|Sufficient for interaction with XPO4.		R -> W (in LDS3). {ECO:0000269|PubMed:21217753}.		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)		GGAGCTGACACGGAGACACAT	0.622																																																	0													52	49	50					15																	67473779		2201	4299	6500	SO:0001583	missense	0			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.859C>T	15.37:g.67473779C>T	ENSP00000332973:p.Arg287Trp		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R287W	ENST00000327367.4	37	c.859	CCDS10222.1	15	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140241	0.37825	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.99698	-6.44;-6.44;-6.44;-6.44	5.1	-1.19	0.09585	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97431	1.0015	10	0.87932	D	0	.	17.576	0.87949	0.6719:0.3281:0.0:0.0	.	243;287	B7Z4Z5;P84022	.;SMAD3_HUMAN	W	287;287;182;243;92	ENSP00000332973:R287W;ENSP00000437757:R182W;ENSP00000401133:R243W;ENSP00000445348:R92W	ENSP00000332973:R287W	R	+	1	2	SMAD3	65260833	0.092000	0.21681	0.129000	0.21949	0.111000	0.19643	0.671000	0.25172	-0.072000	0.12864	-0.277000	0.10078	CGG	SMAD3	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000166949		0.622	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD3	HGNC	protein_coding	OTTHUMT00000256967.2	-	0	12	0	C	NM_005902		67473779	1	tier1	-	no_errors	ENST00000327367	ensembl	human	known	74_37	missense	66.67	4	8	SNP	0.540	T	T	67473779	C	T	67473779	3	4	163	1	0	0	0	0	1	0	0	0	14804	527	19	1	959	1	SMAD3	15	67473779	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	1983043	67473779	35057613	257	41462											
PML	5371	genome.wustl.edu	37	chr15	74335355	74335355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgagagctggatgacagcaGcagtgagtccagtgacctcc	10	6	13	12	1	0	4	0	3	0	1	2	6	2	5	4	1	3	3	4	1	0	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr15:74335355G>T	ENST00000268058.3	+	8	1832	c.1736G>T	c.(1735-1737)aGc>aTc	p.S579I	PML_ENST00000565898.1_Missense_Mutation_p.S531I|PML_ENST00000395135.3_Missense_Mutation_p.S579I|PML_ENST00000569965.1_3'UTR|PML_ENST00000359928.4_3'UTR|PML_ENST00000564428.1_Missense_Mutation_p.S531I	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	579					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						GATGACAGCAGCAGTGAGTCC	0.577			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													85	82	83					15																	74335355		2198	4297	6495	SO:0001583	missense	0			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.1736G>T	15.37:g.74335355G>T	ENSP00000268058:p.Ser579Ile		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.S579I	ENST00000268058.3	37	c.1736	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932766	0.73442	.	.	ENSG00000140464	ENST00000395135;ENST00000268058;ENST00000417341;ENST00000418568	T	0.53857	0.6	4.85	3.91	0.45181	.	0.197372	0.36134	N	0.002771	T	0.54983	0.1892	L	0.29908	0.895	0.80722	D	1	P;D;D;D	0.63046	0.799;0.992;0.992;0.992	B;P;P;P	0.60068	0.252;0.868;0.868;0.868	T	0.58498	-0.7626	10	0.87932	D	0	-21.7979	10.7955	0.46457	0.0:0.1917:0.8083:0.0	.	579;531;531;579	P29590;P29590-11;P29590-12;P29590-5	PML_HUMAN;.;.;.	I	579;579;140;579	ENSP00000268058:S579I	ENSP00000268058:S579I	S	+	2	0	PML	72122408	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.085000	0.50151	1.242000	0.43836	0.561000	0.74099	AGC	PML	-	NULL	ENSG00000140464		0.577	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3		0	35	0	G	NM_002675		74335355	1			no_errors	ENST00000268058	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T	T	74335355	G	T	74335355	3	4	163	1	0	0	0	0	1	0	0	0	12174	971	34	3	2742	3	PML	15	74335355	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	6861576	74335355	28196037	258	41463											
NEIL1	79661	genome.wustl.edu	37	chr15	75646605	75646605	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttagggggatcctggaccGttggcacccaaaggtaagct	9	10	13	9	1	0	0	0	0	0	0	1	2	1	2	3	5	1	4	3	5	3	4	rs368488989		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr15:75646605G>A	ENST00000564784.1	+	8	1490	c.861G>A	c.(859-861)ccG>ccA	p.P287P	NEIL1_ENST00000569035.1_Silent_p.P287P|NEIL1_ENST00000355059.4_Silent_p.P287P|MIR631_ENST00000384904.1_RNA|RP11-817O13.6_ENST00000563660.1_lincRNA			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	287					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						ATCCTGGACCGTTGGCACCCA	0.547								Base excision repair (BER), DNA glycosylases																																									0								G		0,4394		0,0,2197	105	98	100		861	-4.8	0.7	15		100	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	NEIL1	NM_024608.2		0,1,6490	AA,AG,GG		0.0116,0.0,0.0077		287/391	75646605	1,12981	2197	4294	6491	SO:0001819	synonymous_variant	0			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.861G>A	15.37:g.75646605G>A			D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat	p.P287	ENST00000564784.1	37	c.861	CCDS10278.1	15																																																																																			NEIL1	-	pfam_Endonuclease-VIII_DNA-bd	ENSG00000140398		0.547	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL1	HGNC	protein_coding	OTTHUMT00000419885.1	-	0	84	0	G	NM_024608		75646605	1	tier1	-	no_errors	ENST00000355059	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.124	A	A	75646605	G	A	75646605	2	1	163	1	0	0	0	0	0	0	0	1	10357	1132	40	1		1	NEIL1	15	75646605	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1311250	75646605	26884787	259	41464											
RASGRF1	5923	genome.wustl.edu	37	chr15	79291088	79291088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcttggacacccagtggcgGagcacgttcaagacacgatt	10	8	12	11	3	1	1	1	0	0	1	1	4	1	3	1	3	2	3	1	3	1	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr15:79291088G>A	ENST00000419573.3	-	19	3148	c.2874C>T	c.(2872-2874)ctC>ctT	p.L958L	RASGRF1_ENST00000394745.3_Silent_p.L174L|RASGRF1_ENST00000558480.2_Silent_p.L942L|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	958					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						CCCAGTGGCGGAGCACGTTCA	0.627																																																	0													100	93	95					15																	79291088		2196	4293	6489	SO:0001819	synonymous_variant	0			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.2874C>T	15.37:g.79291088G>A			F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L958	ENST00000419573.3	37	c.2874	CCDS10309.1	15																																																																																			RASGRF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N	ENSG00000058335		0.627	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0	68	0	G	NM_002891		79291088	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	silent	47.50	21	19	SNP	0.986	A	A	79291088	G	A	79291088	2	1	163	1	0	0	0	0	0	0	0	1	13117	1161	41	3		3	RASGRF1	15	79291088	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	3644483	79291088	23240304	260	41465											
AGBL1	123624	genome.wustl.edu	37	chr15	86838515	86838515	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcctggaaaagagtgtCaacctcaaagaggtctactt	14	9	9	9	0	3	2	2	0	1	2	4	4	4	3	2	2	2	0	2	2	5	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr15:86838515C>A	ENST00000441037.2	+	16	2207	c.2112C>A	c.(2110-2112)gtC>gtA	p.V704V	AGBL1_ENST00000389298.3_Silent_p.V435V|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000421325.2_Silent_p.V704V|AGBL1-AS1_ENST00000566878.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	704					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						AAAAGAGTGTCAACCTCAAAG	0.443																																																	0													60	60	60					15																	86838515		1915	4138	6053	SO:0001819	synonymous_variant	0			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.2112C>A	15.37:g.86838515C>A			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.V704	ENST00000441037.2	37	c.2112	CCDS58398.1	15																																																																																			AGBL1	-	NULL	ENSG00000166748		0.443	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	-	0	54	0	C	NM_152336		86838515	1	tier1	-	no_errors	ENST00000441037	ensembl	human	known	74_37	silent	37.14	22	13	SNP	0.049	A	A	86838515	C	A	86838515	2	1	163	1	0	0	0	0	0	0	0	1	375	813	29	3		3	AGBL1	15	86838515	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	7547427	86838515	15692877	261	41466											
MAN2A2	4122	genome.wustl.edu	37	chr15	91456129	91456129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacgtccccaaggagccccCcgtgctgcgtgtcactgaag	7	7	11	16	3	1	1	1	1	0	0	2	2	2	2	5	1	4	1	5	1	3	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr15:91456129C>T	ENST00000559717.1	+	17	2951	c.2492C>T	c.(2491-2493)cCc>cTc	p.P831L	MAN2A2_ENST00000430376.2_Missense_Mutation_p.P21L|MAN2A2_ENST00000360468.3_Missense_Mutation_p.P831L|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P339L			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	831					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)			AAGGAGCCCCCCGTGCTGCGT	0.582																																																	0													97	92	94					15																	91456129		2198	4298	6496	SO:0001583	missense	0			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.2492C>T	15.37:g.91456129C>T	ENSP00000452948:p.Pro831Leu		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.P831L	ENST00000559717.1	37	c.2492	CCDS32332.1	15	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978801	0.92982	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	T;T;D	0.82984	-1.06;-1.06;-1.67	5.02	5.02	0.67125	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.047420	0.85682	D	0.000000	D	0.91901	0.7436	M	0.86420	2.815	0.80722	D	1	P;D;D	0.76494	0.95;0.999;0.996	P;D;D	0.74348	0.84;0.983;0.978	D	0.91033	0.4865	10	0.34782	T	0.22	-18.8331	18.5937	0.91223	0.0:1.0:0.0:0.0	.	339;459;831	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	L	831;339;21	ENSP00000353655:P831L;ENSP00000388221:P339L;ENSP00000394372:P21L	ENSP00000353655:P831L	P	+	2	0	MAN2A2	89257133	1.000000	0.71417	0.149000	0.22428	0.954000	0.61252	7.535000	0.82014	2.635000	0.89317	0.549000	0.68633	CCC	MAN2A2	-	pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom	ENSG00000196547		0.582	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5	-	0	43	0	C	NM_006122		91456129	1	tier1	-	no_errors	ENST00000360468	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.998	T	T	91456129	C	T	91456129	3	4	163	1	0	0	0	0	1	0	0	0	9253	623	22	3	2554	3	MAN2A2	15	91456129	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	4617614	91456129	11075263	262	41467											
SLCO3A1	28232	genome.wustl.edu	37	chr15	92459401	92459401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	catcgtcatggcgctgggcgCgctgctgtcggcgctgcccg	2	8	16	15	7	1	0	1	0	0	0	3	0	1	0	1	3	2	4	1	3	0	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr15:92459401C>T	ENST00000318445.6	+	2	573	c.359C>T	c.(358-360)gCg>gTg	p.A120V	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.A120V	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	120					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GCGCTGGGCGCGCTGCTGTCG	0.711																																																	0													10	11	11					15																	92459401		2139	4114	6253	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.359C>T	15.37:g.92459401C>T	ENSP00000320634:p.Ala120Val		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.A120V	ENST00000318445.6	37	c.359	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.563359	0.96527	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.42131	0.98;0.98;0.98	5.22	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);	0.223552	0.45606	D	0.000341	T	0.61837	0.2379	M	0.73217	2.22	0.80722	D	1	P;D;D	0.89917	0.953;1.0;0.989	B;D;P	0.80764	0.292;0.994;0.88	T	0.64635	-0.6361	10	0.54805	T	0.06	.	13.0575	0.58988	0.0:0.922:0.0:0.078	.	62;120;120	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	V	120;120;62	ENSP00000320634:A120V;ENSP00000387846:A120V;ENSP00000450559:A62V	ENSP00000320634:A120V	A	+	2	0	SLCO3A1	90260405	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	5.750000	0.68712	1.335000	0.45486	0.655000	0.94253	GCG	SLCO3A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.711	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	-	0	26	0	C	NM_013272		92459401	1	tier1	-	no_errors	ENST00000318445	ensembl	human	known	74_37	missense	54.84	14	17	SNP	0.999	T	T	92459401	C	T	92459401	3	4	163	1	0	0	0	0	1	0	0	0	14773	768	27	1	365	1	SLCO3A1	15	92459401	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	1003272	92459401	10071991	263	41468											
SOLH	6650	genome.wustl.edu	37	chr16	597668	597668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcaggggagccccccaggGctcgggctgggctggggcct	3	5	19	14	1	0	0	0	0	0	0	1	1	0	1	4	7	2	4	4	7	0	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:597668G>C	ENST00000219611.2	+	4	1193	c.830G>C	c.(829-831)gGc>gCc	p.G277A	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	277					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)										GCCCCCCAGGGCTCGGGCTGG	0.731																																																	0													5	8	7					16																	597668		2016	4079	6095	SO:0001583	missense	0			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.830G>C	16.37:g.597668G>C	ENSP00000219611:p.Gly277Ala		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.G277A	ENST00000219611.2	37	c.830	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	g	0.159	-1.083285	0.01888	.	.	ENSG00000103326	ENST00000219611;ENST00000397687	D	0.87887	-2.31	4.69	3.69	0.42338	.	2.093170	0.02066	N	0.051139	T	0.80385	0.4613	L	0.32530	0.975	0.26392	N	0.976553	B	0.28055	0.199	B	0.21917	0.037	T	0.63166	-0.6698	10	0.05436	T	0.98	.	10.4473	0.44501	0.0:0.1988:0.8012:0.0	.	277	O75808	CAN15_HUMAN	A	277	ENSP00000219611:G277A	ENSP00000219611:G277A	G	+	2	0	SOLH	537669	1.000000	0.71417	0.943000	0.38184	0.059000	0.15707	4.198000	0.58419	0.904000	0.36572	0.556000	0.70494	GGC	CAPN15	-	NULL	ENSG00000103326		0.731	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	HGNC	protein_coding	OTTHUMT00000239271.1		0	30	0	G	NM_005632		597668	1			no_errors	ENST00000219611	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.981	C	C	597668	G	C	597668	3	2	163	1	0	0	0	0	1	0	0	0	14970	1203	42	5	832	5	SOLH	16	597668	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		597668	89757085	264	41469											
TSC2	7249	genome.wustl.edu	37	chr16	2134649	2134649	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcaggggcaagagagtaGagagggacgccttaaagagc	14	3	16	8	2	0	3	0	0	0	3	0	6	0	4	1	3	1	3	1	3	4	2	rs376946970		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:2134649G>T	ENST00000219476.3	+	34	5056	c.4426G>T	c.(4426-4428)Gag>Tag	p.E1476*	TSC2_ENST00000353929.4_Nonsense_Mutation_p.E1433*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.E1373*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.E1420*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.E1409*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.E1361*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.E1453*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1476					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)				CAAGAGAGTAGAGAGGGACGC	0.657			"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													32	37	35					16																	2134649		2195	4289	6484	SO:0001587	stop_gained	0	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.4426G>T	16.37:g.2134649G>T	ENSP00000219476:p.Glu1476*		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Nonsense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.E1476*	ENST00000219476.3	37	c.4426	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	G	41	8.797868	0.98958	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	5.03	5.03	0.67393	.	0.287225	0.31721	N	0.007164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-26.8017	14.0118	0.64503	0.0:0.1515:0.8485:0.0	.	.	.	.	X	1476;1410;1433;1373;1361;1453	.	ENSP00000219476:E1476X	E	+	1	0	TSC2	2074650	1.000000	0.71417	0.890000	0.34922	0.023000	0.10783	7.265000	0.78442	2.343000	0.79666	0.591000	0.81541	GAG	TSC2	-	NULL	ENSG00000103197		0.657	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2		0	112	0	G	NM_000548		2134649	1			no_errors	ENST00000219476	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	T	T	2134649	G	T	2134649	4	4	163	1	0	0	0	0	0	1	0	0	16654	943	33	3	4556	3	TSC2	16	2134649	Nonsense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1536981	2134649	88220104	265	41470											
SNX29	92017	genome.wustl.edu	37	chr16	12172757	12172757	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttctgcctcagtgccaGagtccatgacaattagtaag	11	11	8	11	0	2	2	1	1	1	1	3	2	3	2	4	0	3	1	4	0	4	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:12172757G>T	ENST00000566228.1	+	11	1456	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*	SNX29_ENST00000306030.3_Nonsense_Mutation_p.E78*|SNX29_ENST00000323433.4_Nonsense_Mutation_p.E78*	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	463						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTCAGTGCCAGAGTCCATGAC	0.552																																																	0													88	83	84					16																	12172757		2013	4178	6191	SO:0001587	stop_gained	0			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.1387G>T	16.37:g.12172757G>T	ENSP00000456480:p.Glu463*		B5MDW2|Q8N2X2|Q9HA26	Nonsense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E78*	ENST00000566228.1	37	c.232	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	G	39	7.488475	0.98316	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.26	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.6272	10.0026	0.41938	0.0936:0.0:0.9064:0.0	.	.	.	.	X	78	.	ENSP00000306940:E78X	E	+	1	0	SNX29	12080258	0.999000	0.42202	0.992000	0.48379	0.940000	0.58332	3.415000	0.52700	1.223000	0.43536	0.558000	0.71614	GAG	SNX29	-	NULL	ENSG00000048471		0.552	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	-	0	36	0	G			12172757	1	tier1	-	no_errors	ENST00000306030	ensembl	human	known	74_37	nonsense	25.00	9	3	SNP	0.996	T	T	12172757	G	T	12172757	4	4	163	1	0	0	0	0	0	1	0	0	14943	943	33	3	242	3	SNX29	16	12172757	Nonsense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	10038108	12172757	78181996	266	41471											
SRCAP	10847	genome.wustl.edu	37	chr16	30750262	30750262	+	Silent	SNP	G	G	A	0	0	1	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	aactccgaaagtcggacacaGccacccccacacccatcacc	13	3	5	20	2	1	0	1	0	0	0	3	2	2	1	6	1	2	0	6	1	2	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:30750262G>A	ENST00000262518.4	+	34	9286	c.8901G>A	c.(8899-8901)caG>caA	p.Q2967Q	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Silent_p.Q2809Q|SRCAP_ENST00000395059.2_Silent_p.Q2905Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2967	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)			GTCGGACACAGCCACCCCCAC	0.562																																																	0													133	108	117					16																	30750262		2197	4300	6497	SO:0001819	synonymous_variant	0			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.8901G>A	16.37:g.30750262G>A			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.Q2967	ENST00000262518.4	37	c.8901	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.562	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1		0	25	0	G	NM_006662		30750262	1			no_errors	ENST00000262518	ensembl	human	known	74_37	silent	16.67	10	2	SNP	1.000	A	A	30750262	G	A	30750262	2	1	163	1	0	0	0	0	0	0	0	1	15182	962	34	3		3	SRCAP	16	30750262	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	18577505	30750262	59604491	267	41472											
PRSS36	146547	genome.wustl.edu	37	chr16	31160456	31160456	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atgagggagcccccgcagatGtggccacctccatggtgcag	8	6	14	13	1	0	2	0	1	0	1	1	3	1	3	5	3	2	2	5	3	0	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:31160456G>T	ENST00000268281.4	-	4	268	c.210C>A	c.(208-210)caC>caA	p.H70Q	PRSS36_ENST00000418068.2_Missense_Mutation_p.H70Q|PRSS36_ENST00000569305.1_Missense_Mutation_p.H70Q	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	70	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.H70Q(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCCCGCAGATGTGGCCACCTC	0.682																																																	1	Substitution - Missense(1)	lung(1)											12	13	13					16																	31160456		2183	4280	6463	SO:0001583	missense	0			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.210C>A	16.37:g.31160456G>T	ENSP00000268281:p.His70Gln		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.H70Q	ENST00000268281.4	37	c.210	CCDS32436.1	16	.	.	.	.	.	.	.	.	.	.	g	20.7	4.028690	0.75390	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.82893	-1.66;-1.66	5.27	4.32	0.51571	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.89308	0.6678	M	0.72894	2.215	0.32663	N	0.517808	D;P;P	0.76494	0.999;0.692;0.507	D;B;B	0.75020	0.985;0.276;0.29	D	0.91079	0.4898	9	0.87932	D	0	.	11.4437	0.50110	0.0881:0.0:0.9119:0.0	.	70;70;70	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	Q	70	ENSP00000268281:H70Q;ENSP00000407160:H70Q	ENSP00000268281:H70Q	H	-	3	2	PRSS36	31067957	0.971000	0.33674	0.987000	0.45799	0.916000	0.54674	1.646000	0.37249	1.211000	0.43351	0.552000	0.68991	CAC	PRSS36	-	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178226		0.682	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1		0	35	0	G	NM_173502		31160456	-1			no_errors	ENST00000268281	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.967	T	T	31160456	G	T	31160456	3	4	163	1	0	0	0	0	1	0	0	0	12667	1368	48	3	2405	3	PRSS36	16	31160456	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	410194	31160456	59194297	268	41473											
SLC6A2	6530	genome.wustl.edu	37	chr16	55731829	55731829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggaggcatggaggctgtCatcacgggcctggcagatga	9	7	17	8	1	2	2	2	1	0	1	2	4	2	4	1	6	0	3	1	6	0	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:55731829C>T	ENST00000379906.2	+	9	1536	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V	SLC6A2_ENST00000561820.1_Silent_p.V427V|SLC6A2_ENST00000566163.1_Silent_p.V382V|SLC6A2_ENST00000568943.1_Silent_p.V427V|SLC6A2_ENST00000219833.8_Silent_p.V427V|SLC6A2_ENST00000567238.1_Silent_p.V322V|SLC6A2_ENST00000414754.3_Silent_p.V427V	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	427					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)	TGGAGGCTGTCATCACGGGCC	0.592																																																	0													78	69	72					16																	55731829		2198	4300	6498	SO:0001819	synonymous_variant	0				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.1281C>T	16.37:g.55731829C>T			B2R707|B4DX48|Q96KH8	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.V427	ENST00000379906.2	37	c.1281	CCDS10754.1	16																																																																																			SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000103546		0.592	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2		0	59	0	C			55731829	1			no_errors	ENST00000219833	ensembl	human	known	74_37	silent	10.00	27	3	SNP	1.000	T	T	55731829	C	T	55731829	2	4	163	1	0	0	0	0	0	0	0	1	14728	813	29	3		3	SLC6A2	16	55731829	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	24571373	55731829	34622924	269	41474											
VAC14	55697	genome.wustl.edu	37	chr16	70778407	70778407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggtcagggccatcgaGggggcctgggtcatccgtct	5	8	17	11	2	3	0	2	0	1	0	5	2	4	1	3	6	0	0	3	6	0	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:70778407G>C	ENST00000261776.5	-	13	1707	c.1447C>G	c.(1447-1449)Ctc>Gtc	p.L483V	RP11-394B2.6_ENST00000567186.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	483					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGGCCATCGAGGGGGCCTGGG	0.652																																																	0													34	39	37					16																	70778407		2198	4300	6498	SO:0001583	missense	0			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1447C>G	16.37:g.70778407G>C	ENSP00000261776:p.Leu483Val		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.L483V	ENST00000261776.5	37	c.1447	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	G	0.109	-1.141516	0.01728	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.4	3.16	0.36331	Armadillo-type fold (1);	0.326219	0.35615	N	0.003087	T	0.22360	0.0539	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13019	-1.0525	9	0.14656	T	0.56	-2.1584	5.1661	0.15086	0.1296:0.4214:0.4491:0.0	.	483	Q08AM6	VAC14_HUMAN	V	483	.	ENSP00000261776:L483V	L	-	1	0	VAC14	69335908	0.005000	0.15991	0.018000	0.16275	0.077000	0.17291	1.656000	0.37355	1.220000	0.43490	0.561000	0.74099	CTC	VAC14	-	superfamily_ARM-type_fold	ENSG00000103043		0.652	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	-	0	84	0	G	NM_018052		70778407	-1	tier1	-	no_errors	ENST00000261776	ensembl	human	known	74_37	missense	15.62	54	10	SNP	0.001	C	C	70778407	G	C	70778407	3	2	163	1	0	0	0	0	1	0	0	0	17160	1000	35	5	929	5	VAC14	16	70778407	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	15046578	70778407	19576346	270	41475											
MARVELD3	91862	genome.wustl.edu	37	chr16	71660355	71660355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgaccggaaccgggacCgggagagggagagagagagg	12	0	20	9	5	0	3	0	0	0	3	0	10	0	6	4	5	1	0	4	5	1	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:71660355C>T	ENST00000268485.3	+	1	267	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	MARVELD3_ENST00000299952.4_Missense_Mutation_p.R75W|RP11-432I5.2_ENST00000562763.1_RNA|MARVELD3_ENST00000565261.1_Missense_Mutation_p.R75W|MARVELD3_ENST00000567566.1_Missense_Mutation_p.R75W|MARVELD3_ENST00000567501.1_5'Flank	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	75	Arg-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)				GAACCGGGACCgggagaggga	0.706																																																	0													29	45	39					16																	71660355		1906	3711	5617	SO:0001583	missense	0			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.223C>T	16.37:g.71660355C>T	ENSP00000268485:p.Arg75Trp		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	NULL	p.R75W	ENST00000268485.3	37	c.223	CCDS10904.1	16	.	.	.	.	.	.	.	.	.	.	C	2.694	-0.272461	0.05716	.	.	ENSG00000140832	ENST00000268485;ENST00000299952	T;T	0.64991	-0.13;-0.13	1.8	-3.61	0.04556	.	0.390690	0.08080	U	1.000000	T	0.61375	0.2342	L	0.42245	1.32	0.38770	D	0.954525	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.56434	0.794;0.798;0.722	T	0.61744	-0.7000	10	0.54805	T	0.06	.	5.0546	0.14525	0.413:0.4286:0.1585:0.0	.	75;75;98	Q96A59-2;Q96A59;Q9BSH2	.;MALD3_HUMAN;.	W	75	ENSP00000268485:R75W;ENSP00000299952:R75W	ENSP00000268485:R75W	R	+	1	2	MARVELD3	70217856	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-2.946000	0.00680	-2.976000	0.00284	-1.855000	0.00564	CGG	MARVELD3	-	NULL	ENSG00000140832		0.706	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	MARVELD3	HGNC	protein_coding	OTTHUMT00000268991.2	-	0	42	0	C	NM_052858		71660355	1	tier1	-	no_errors	ENST00000299952	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.086	T	T	71660355	C	T	71660355	3	4	163	1	0	0	0	0	1	0	0	0	9357	643	23	1	225	1	MARVELD3	16	71660355	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	881948	71660355	18694398	271	41476											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76569521	76569521	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggatgaccctggatttggaAgaaagagcccaggtgactcc	11	7	14	9	0	0	4	0	2	0	2	1	7	1	7	3	4	1	0	3	4	2	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:76569521A>T	ENST00000476707.1	+	17	2983	c.2844A>T	c.(2842-2844)gaA>gaT	p.E948D	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.E944D|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E896D|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E872D			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	945	Laminin G-like 3. {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						TGGATTTGGAAGAAAGAGCCC	0.517																																																	0													66	74	72					16																	76569521		2186	4294	6480	SO:0001583	missense	0			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.2844A>T	16.37:g.76569521A>T	ENSP00000417628:p.Glu948Asp		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E944D	ENST00000476707.1	37	c.2832		16	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148036	0.78001	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.18	0.319	0.15873	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.42420	D	0.000701	D	0.85478	0.5706	.	.	.	0.40371	D	0.97934	D;D;D	0.76494	0.998;0.996;0.999	D;D;D	0.83275	0.971;0.933;0.996	D	0.83846	0.0260	9	0.87932	D	0	.	9.0442	0.36336	0.7046:0.0:0.2954:0.0	.	872;948;945	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	D	944;896;872;948	ENSP00000306893:E944D;ENSP00000439733:E896D;ENSP00000418741:E872D;ENSP00000417628:E948D	ENSP00000306893:E944D	E	+	3	2	CNTNAP4	75127022	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	1.246000	0.32803	-0.124000	0.11724	0.533000	0.62120	GAA	CNTNAP4	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000152910		0.517	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	-	0	103	0	A	NM_033401		76569521	1	tier1	-	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	17.19	53	11	SNP	1.000	T	T	76569521	A	T	76569521	3	4	163	1	0	0	0	0	1	0	0	0	3656	69	3	5	2918	5	CNTNAP4	16	76569521	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	4909166	76569521	13785232	272	41477											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77353746	77353746	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatacacagaaggggcttacTtcaaagaccagcgtctcatt	14	9	8	10	1	2	2	2	0	1	2	3	2	2	2	1	2	3	1	1	2	5	4	rs373640477		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:77353746T>G	ENST00000282849.5	-	16	2950	c.2532A>C	c.(2530-2532)gaA>gaC	p.E844D		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	844	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGGGGCTTACTTCAAAGACCA	0.502																																																	0													64	64	64					16																	77353746		2198	4300	6498	SO:0001630	splice_region_variant	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2532+1A>C	16.37:g.77353746T>G			Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E844D	ENST00000282849.5	37	c.2532	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913301	0.33815	.	.	ENSG00000140873	ENST00000282849	T	0.53206	0.63	5.54	0.783	0.18572	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	M	0.75884	2.315	0.49582	D	0.999803	D;D	0.76494	0.963;0.999	P;D	0.79108	0.775;0.992	T	0.60198	-0.7310	9	.	.	.	.	10.5257	0.44948	0.0:0.2086:0.0:0.7914	.	844;844	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	D	844	ENSP00000282849:E844D	.	E	-	3	2	ADAMTS18	75911247	1.000000	0.71417	0.997000	0.53966	0.084000	0.17831	0.951000	0.29135	-0.132000	0.11557	-1.366000	0.01203	GAA	ADAMTS18	-	pfam_ADAM_spacer1	ENSG00000140873		0.502	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1		0	58	0	T		Missense_Mutation	77353746	-1			no_errors	ENST00000282849	ensembl	human	known	74_37	missense	6.67	27	2	SNP	1.000	G	G	77353746	T	G	77353746	5	3	163	1	0	0	0	0	0	0	1	0	263	1623	56	4	1165	4	ADAMTS18	16	77353746	Splice_Site	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	784225	77353746	13001007	273	41478											
VAT1L	57687	genome.wustl.edu	37	chr16	77850905	77850905	+	Silent	SNP	T	T	C	0	1	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	gtgccaggatttgagtgttcTgggattgttgaagctctggg	6	14	16	5	0	2	2	0	2	2	0	2	4	2	4	1	3	2	3	1	3	1	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:77850905T>C	ENST00000302536.2	+	2	474	c.321T>C	c.(319-321)tcT>tcC	p.S107S		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	107							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTGAGTGTTCTGGGATTGTTG	0.433																																																	0													152	139	143					16																	77850905		2198	4300	6498	SO:0001819	synonymous_variant	0			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.321T>C	16.37:g.77850905T>C			Q8IYW8	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.S107	ENST00000302536.2	37	c.321	CCDS32492.1	16																																																																																			VAT1L	-	pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	ENSG00000171724		0.433	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAT1L	HGNC	protein_coding	OTTHUMT00000434010.1	-	0	52	0	T	NM_020927		77850905	1	tier1	-	no_errors	ENST00000302536	ensembl	human	known	74_37	silent	22.22	28	8	SNP	0.997	C	C	77850905	T	C	77850905	2	2	163	1	0	0	0	0	0	0	0	1	17179	1567	55	4		4	VAT1L	16	77850905	Silent	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	497159	77850905	12503848	274	41479											
KCNG4	93107	genome.wustl.edu	37	chr16	84255965	84255965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttggaggtggcggaggcggGcctgaagctgctcctgctcc	4	9	17	11	2	0	1	0	1	0	0	2	3	2	3	3	6	3	3	3	6	1	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:84255965G>A	ENST00000308251.4	-	3	1486	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	473					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCGGAGGCGGGCCTGAAGCTG	0.582																																																	0													97	102	101					16																	84255965		2200	4300	6500	SO:0001583	missense	0			AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1418C>T	16.37:g.84255965G>A	ENSP00000312129:p.Ala473Val		Q96H24	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.A473V	ENST00000308251.4	37	c.1418	CCDS10945.1	16	.	.	.	.	.	.	.	.	.	.	G	8.031	0.761670	0.15914	.	.	ENSG00000168418	ENST00000308251	D	0.96619	-4.07	5.27	3.3	0.37823	.	0.430974	0.25027	N	0.033702	D	0.92603	0.7650	L	0.54323	1.7	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	D	0.86999	0.2115	10	0.22109	T	0.4	.	6.4849	0.22083	0.1604:0.1492:0.6904:0.0	.	473	Q8TDN1	KCNG4_HUMAN	V	473	ENSP00000312129:A473V	ENSP00000312129:A473V	A	-	2	0	KCNG4	82813466	0.246000	0.23909	0.975000	0.42487	0.634000	0.38068	3.114000	0.50383	1.212000	0.43366	0.563000	0.77884	GCC	KCNG4	-	NULL	ENSG00000168418		0.582	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG4	HGNC	protein_coding	OTTHUMT00000269079.2	-	0	66	0	G	NM_172347		84255965	-1	tier1	-	no_errors	ENST00000308251	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.951	A	A	84255965	G	A	84255965	3	1	163	1	0	0	0	0	1	0	0	0	8057	1203	42	3	143	3	KCNG4	16	84255965	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	6405060	84255965	6098788	275	41480											
KIAA0182	23199	genome.wustl.edu	37	chr16	85691066	85691066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tgaggaggagaagtggctggCgcggcagcggcggctgcggc	6	4	22	9	5	0	2	0	1	0	1	0	4	0	3	0	8	2	3	0	8	1	0	rs368638789		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr16:85691066C>T	ENST00000253458.7	+	8	1672	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	GSE1_ENST00000393243.1_Missense_Mutation_p.A426V|GSE1_ENST00000405402.2_Missense_Mutation_p.A395V|RN7SL381P_ENST00000577658.1_RNA	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	499																	AAGTGGCTGGCGCGGCAGCGG	0.657																																																	0								C	VAL/ALA,VAL/ALA	0,4382		0,0,2191	31	30	30		1184,1496	5.1	1	16		30	1,8593		0,1,4296	no	missense,missense	KIAA0182	NM_001134473.1,NM_014615.2	64,64	0,1,6487	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	395/1114,499/1218	85691066	1,12975	2191	4297	6488	SO:0001583	missense	0			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1496C>T	16.37:g.85691066C>T	ENSP00000253458:p.Ala499Val		D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	pfam_GSE-like	p.A499V	ENST00000253458.7	37	c.1496	CCDS10952.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.337747|5.337747	0.95758|0.95758	0.0|0.0	1.16E-4|1.16E-4	ENSG00000131149|ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243|ENST00000412692	T;T;T|.	0.69926|.	-0.44;-0.44;-0.44|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71082|0.71082	0.3298|0.3298	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.74023|.	0.982;0.96|.	T|T	0.68895|0.68895	-0.5288|-0.5288	10|5	0.49607|.	T|.	0.09|.	-30.0247|-30.0247	18.4259|18.4259	0.90608|0.90608	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	426;499|.	Q14687-3;Q14687|.	.;GSE1_HUMAN|.	V|C	395;499;426|306	ENSP00000384839:A395V;ENSP00000253458:A499V;ENSP00000376934:A426V|.	ENSP00000253458:A499V|.	A|R	+|+	2|1	0|0	KIAA0182|KIAA0182	84248567|84248567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.783000|5.783000	0.68982|0.68982	2.367000|2.367000	0.80283|0.80283	0.561000|0.561000	0.74099|0.74099	GCG|CGC	GSE1	-	NULL	ENSG00000131149		0.657	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSE1	HGNC	protein_coding	OTTHUMT00000325527.1	-	0	42	0	C	NM_014615		85691066	1	tier1	-	no_errors	ENST00000253458	ensembl	human	known	74_37	missense	13.33	38	6	SNP	1.000	T	T	85691066	C	T	85691066	3	4	163	1	0	0	0	0	1	0	0	0	8186	768	27	1	1526	1	KIAA0182	16	85691066	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	1435101	85691066	4663687	276	41481											
GEMIN4	50628	genome.wustl.edu	37	chr17	650986	650986	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggatcatgttgcccacCgagaagaacaggtcttcctg	9	9	13	10	1	2	2	1	0	1	2	3	4	3	3	3	3	2	1	3	3	2	2	rs370552236		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:650986C>T	ENST00000319004.5	-	2	415	c.297G>A	c.(295-297)tcG>tcA	p.S99S	GEMIN4_ENST00000437269.1_Silent_p.S99S|GEMIN4_ENST00000576778.1_Silent_p.S88S	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	99					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGTTGCCCACCGAGAAGAACA	0.572																																																	0								C		0,4112		0,0,2056	79	83	81		297	-11.3	0	17		81	1,8367		0,1,4183	no	coding-synonymous	GEMIN4	NM_015721.2		0,1,6239	TT,TC,CC		0.012,0.0,0.0080		99/1059	650986	1,12479	2056	4184	6240	SO:0001819	synonymous_variant	0			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.297G>A	17.37:g.650986C>T			Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	NULL	p.S99	ENST00000319004.5	37	c.297	CCDS45559.1	17																																																																																			GEMIN4	-	NULL	ENSG00000179409		0.572	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	-	0	50	0	C	NM_015721		650986	-1	tier1	-	no_errors	ENST00000319004	ensembl	human	known	74_37	silent	34.04	31	16	SNP	0.005	T	T	650986	C	T	650986	2	4	163	1	0	0	0	0	0	0	0	1	6356	639	23	1		1	GEMIN4	17	650986	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09		650986	80544224	277	41482											
SMG6	23293	genome.wustl.edu	37	chr17	2202239	2202239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccctccggactgatgCggtccctggagagcaggttg	6	7	15	13	2	0	2	0	1	0	1	2	4	2	3	4	5	2	2	4	5	0	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:2202239C>T	ENST00000263073.6	-	2	1858	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	SMG6_ENST00000544865.1_Missense_Mutation_p.R572H	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	603					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGACTGATGCGGTCCCTGGA	0.582																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													160	157	158					17																	2202239		2203	4300	6503	SO:0001583	missense	0			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1808G>A	17.37:g.2202239C>T	ENSP00000263073:p.Arg603His		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PIN_dom	p.R603H	ENST00000263073.6	37	c.1808	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773612	0.49786	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.17528	2.27;2.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.29908	0.895	0.52501	D	0.999958	D	0.89917	1.0	D	0.64506	0.926	T	0.00995	-1.1487	10	0.41790	T	0.15	-4.8096	19.7468	0.96255	0.0:1.0:0.0:0.0	.	603	Q86US8	EST1A_HUMAN	H	603;572	ENSP00000263073:R603H;ENSP00000443920:R572H	ENSP00000263073:R603H	R	-	2	0	SMG6	2148989	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.551000	0.60740	2.731000	0.93534	0.650000	0.86243	CGC	SMG6	-	NULL	ENSG00000070366		0.582	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	-	0	38	0	C			2202239	-1	tier1	-	no_errors	ENST00000263073	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	T	T	2202239	C	T	2202239	3	4	163	1	0	0	0	0	1	0	0	0	14842	768	27	1	2523	1	SMG6	17	2202239	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	1551253	2202239	78992971	278	41483											
OR1A1	8383	genome.wustl.edu	37	chr17	3119716	3119716	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgaccaattatagcctaAaagacgcagtgatcactgta	14	11	7	9	1	1	3	1	2	0	1	1	3	1	3	2	0	1	2	2	0	6	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:3119716A>C	ENST00000304094.1	+	1	802	c.802A>C	c.(802-804)Aaa>Caa	p.K268Q		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	268						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						TTATAGCCTAAAAGACGCAGT	0.483																																																	0													152	134	140					17																	3119716		2203	4300	6503	SO:0001583	missense	0			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.802A>C	17.37:g.3119716A>C	ENSP00000305207:p.Lys268Gln		A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K268Q	ENST00000304094.1	37	c.802	CCDS11022.1	17	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298131	0.23650	.	.	ENSG00000172146	ENST00000304094	T	0.00048	8.82	4.75	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.00144	0.0004	N	0.19112	0.55	0.09310	N	1	P	0.39376	0.67	P	0.47251	0.542	T	0.55724	-0.8096	10	0.40728	T	0.16	.	9.7419	0.40424	0.9128:0.0:0.0872:0.0	.	268	Q9P1Q5	OR1A1_HUMAN	Q	268	ENSP00000305207:K268Q	ENSP00000305207:K268Q	K	+	1	0	OR1A1	3066466	0.000000	0.05858	0.799000	0.32177	0.183000	0.23260	-0.325000	0.07976	2.126000	0.65437	0.418000	0.28097	AAA	OR1A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172146		0.483	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A1	HGNC	protein_coding	OTTHUMT00000207292.1	-	0	52	0	A	NM_014565		3119716	1	tier1	-	no_errors	ENST00000304094	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.014	C	C	3119716	A	C	3119716	3	2	163	1	0	0	0	0	1	0	0	0	10988	15	1	4	804	4	OR1A1	17	3119716	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	917477	3119716	78075494	279	41484											
ZBTB4	57659	genome.wustl.edu	37	chr17	7366573	7366573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacctccaccaatcccGcccactggcttggctgtgta	6	8	7	20	1	0	0	0	0	0	0	2	0	2	0	7	2	0	3	7	2	2	2	rs373767560		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:7366573G>A	ENST00000311403.4	-	4	2067	c.1728C>T	c.(1726-1728)ggC>ggT	p.G576G	ZBTB4_ENST00000380599.4_Silent_p.G576G	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	576					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CACCAATCCCGCCCACTGGCT	0.677																																																	0								G	,	0,4394		0,0,2197	11	13	13		1728,1728	-8.7	0	17		13	1,8581		0,1,4290	no	coding-synonymous,coding-synonymous	ZBTB4	NM_001128833.1,NM_020899.3	,	0,1,6487	AA,AG,GG		0.0117,0.0,0.0077	,	576/1014,576/1014	7366573	1,12975	2197	4291	6488	SO:0001819	synonymous_variant	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1728C>T	17.37:g.7366573G>A			B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G576	ENST00000311403.4	37	c.1728	CCDS11107.1	17																																																																																			ZBTB4	-	NULL	ENSG00000174282		0.677	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	-	0	75	0	G	NM_020899		7366573	-1	tier1	-	no_errors	ENST00000311403	ensembl	human	known	74_37	silent	8.33	55	5	SNP	0.000	A	A	7366573	G	A	7366573	2	1	163	1	0	0	0	0	0	0	0	1	17589	1074	38	1		1	ZBTB4	17	7366573	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	4246857	7366573	73828637	280	41485											
TP53	7157	genome.wustl.edu	37	chr17	7577558	7577558	+	Frame_Shift_Del	DEL	G	G	-																															cggttcatgccgcccatgcaGgaactgttacacatgtagtt																								rs397516437		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:7577558delG	ENST00000269305.4	-	7	912	c.723delC	c.(721-723)tccfs	p.S241fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S241fs	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.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(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)	CGCCCATGCAGGAACTGTTAC	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"	50	Deletion - In frame(13)|Deletion - Frameshift(13)|Whole gene deletion(8)|Unknown(5)|Substitution - Missense(5)|Substitution - coding silent(3)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	large_intestine(8)|biliary_tract(6)|breast(5)|upper_aerodigestive_tract(4)|stomach(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|central_nervous_system(2)|urinary_tract(2)|oesophagus(2)|skin(2)|eye(2)|pancreas(2)|liver(1)											138	107	117					17																	7577558		2203	4300	6503	SO:0001589	frameshift_variant	0	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.723delC	17.37:g.7577558delG	ENSP00000269305:p.Ser241fs		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C242fs	ENST00000269305.4	37	c.723	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	49	0	G	NM_000546		7577558	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	54.29	16	19	DEL	1.000	-	-	7577558	G	-	7577558	7	5	163	1	0	1	0	1	0	0	0	0	16429	987	35	0	567	0	TP53	17	7577558	Frame_Shift_Del	DEL	G	TCGA-VR-A8EQ-01A-11D-A36J-09	210985	7577558	73617652	281	41486											
DNAH2	146754	genome.wustl.edu	37	chr17	7636537	7636537	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgcttcggctgctcggtggaGtctttgcccctcagatcttt	3	15	11	12	2	3	1	1	0	2	1	5	2	3	2	2	3	3	3	2	3	0	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:7636537G>T	ENST00000572933.1	+	5	1992	c.532G>T	c.(532-534)Gtc>Ttc	p.V178F	DNAH2_ENST00000082259.3_Missense_Mutation_p.V178F|DNAH2_ENST00000389173.2_Missense_Mutation_p.V178F|DNAH2_ENST00000570791.1_Missense_Mutation_p.V178F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	178	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTCGGTGGAGTCTTTGCCCC	0.552																																																	0													94	89	91					17																	7636537		2203	4300	6503	SO:0001583	missense	0			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.532G>T	17.37:g.7636537G>T	ENSP00000458355:p.Val178Phe		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V178F	ENST00000572933.1	37	c.532	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084865	0.55861	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.42131	0.98;0.98	5.42	4.25	0.50352	.	0.580978	0.14346	N	0.325389	T	0.36717	0.0977	L	0.39898	1.24	0.36345	D	0.859725	P;P	0.38250	0.624;0.589	B;B	0.40009	0.154;0.316	T	0.48758	-0.9007	10	0.72032	D	0.01	.	9.536	0.39222	0.0903:0.1495:0.7602:0.0	.	178;178	Q9P225;Q9P225-3	DYH2_HUMAN;.	F	178	ENSP00000373825:V178F;ENSP00000082259:V178F	ENSP00000082259:V178F	V	+	1	0	DNAH2	7577262	0.290000	0.24343	0.962000	0.40283	0.831000	0.47069	0.533000	0.23082	2.561000	0.86390	0.561000	0.74099	GTC	DNAH2	-	NULL	ENSG00000183914		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	-	0	37	0	G	NM_020877		7636537	1	tier1	-	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.505	T	T	7636537	G	T	7636537	3	4	163	1	0	0	0	0	1	0	0	0	4616	1029	36	3	546	3	DNAH2	17	7636537	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	58979	7636537	73558673	282	41487											
MYH10	4628	genome.wustl.edu	37	chr17	8409731	8409731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgcgatctggtcctgcagGtcggtcgtctccccgtcgag	3	11	13	14	5	3	0	0	0	3	0	8	2	4	0	3	3	2	1	3	3	0	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:8409731G>T	ENST00000269243.4	-	25	3336	c.3198C>A	c.(3196-3198)gaC>gaA	p.D1066E	MYH10_ENST00000379980.4_Missense_Mutation_p.D1082E|MYH10_ENST00000396239.1_Missense_Mutation_p.D1087E|MYH10_ENST00000360416.3_Missense_Mutation_p.D1097E	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1066					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						GGTCCTGCAGGTCGGTCGTCT	0.537																																																	0													127	108	115					17																	8409731		2203	4300	6503	SO:0001583	missense	0			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.3198C>A	17.37:g.8409731G>T	ENSP00000269243:p.Asp1066Glu		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1087E	ENST00000269243.4	37	c.3261	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127921	0.20959	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.87	-0.0229	0.13945	.	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	L	0.38733	1.17	0.50171	D	0.999859	B;B;B	0.13145	0.007;0.002;0.007	B;B;B	0.25987	0.029;0.065;0.029	T	0.75221	-0.3394	10	0.72032	D	0.01	.	10.5367	0.45009	0.4187:0.0:0.5812:0.0	.	1075;1097;1066	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	E	1066;1097;1087;1082	ENSP00000269243:D1066E;ENSP00000353590:D1097E;ENSP00000379539:D1087E;ENSP00000369315:D1082E	ENSP00000269243:D1066E	D	-	3	2	MYH10	8350456	1.000000	0.71417	0.987000	0.45799	0.549000	0.35272	1.768000	0.38511	0.161000	0.19458	0.563000	0.77884	GAC	MYH10	-	superfamily_HR1_rho-bd	ENSG00000133026		0.537	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	-	0	76	0	G			8409731	-1	tier1	-	no_errors	ENST00000396239	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	8409731	G	T	8409731	3	4	163	1	0	0	0	0	1	0	0	0	10068	1252	44	3	2800	3	MYH10	17	8409731	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	773194	8409731	72785479	283	41488											
MYH2	4620	genome.wustl.edu	37	chr17	10432983	10432983	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtctgctggtgggcctcctgGagagccttcttctccttggt	2	14	13	12	0	3	1	0	0	3	1	5	2	4	1	4	4	2	1	4	4	0	3	rs267604722		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:10432983G>C	ENST00000245503.5	-	24	3399	c.3015C>G	c.(3013-3015)ctC>ctG	p.L1005L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.L1005L|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1005					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGGCCTCCTGGAGAGCCTTCT	0.488																																																	0													133	130	131					17																	10432983		2202	4281	6483	SO:0001819	synonymous_variant	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3015C>G	17.37:g.10432983G>C			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1005	ENST00000245503.5	37	c.3015	CCDS11156.1	17																																																																																			MYH2	-	superfamily_Prefoldin	ENSG00000125414		0.488	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0	64	0	G	NM_017534		10432983	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	silent	18.09	77	17	SNP	1.000	C	C	10432983	G	C	10432983	2	2	163	1	0	0	0	0	0	0	0	1	10073	1161	41	5		5	MYH2	17	10432983	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2023252	10432983	70762227	284	41489											
EVPLL	645027	genome.wustl.edu	37	chr17	18284967	18284967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagtgtgcggagtactgtgCcctgtacgagaagatggtgc	8	9	17	7	2	0	2	0	0	0	2	0	5	0	4	1	3	5	2	1	3	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:18284967C>T	ENST00000399134.4	+	4	627	c.269C>T	c.(268-270)gCc>gTc	p.A90V	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	90										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAGTACTGTGCCCTGTACGAG	0.632																																																	0													143	130	134					17																	18284967		692	1591	2283	SO:0001583	missense	0				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.269C>T	17.37:g.18284967C>T	ENSP00000382086:p.Ala90Val		B4DPD4	Missense_Mutation	SNP	NULL	p.A90V	ENST00000399134.4	37	c.269	CCDS45626.1	17	.	.	.	.	.	.	.	.	.	.	.	12.17	1.857923	0.32791	.	.	ENSG00000214860	ENST00000399134	T	0.19532	2.14	.	.	.	.	.	.	.	.	T	0.09818	0.0241	L	0.27053	0.805	0.21950	N	0.999454	P	0.41041	0.736	B	0.28784	0.094	T	0.22068	-1.0227	8	0.56958	D	0.05	.	3.3254	0.07064	0.4581:0.5417:1.0E-4:1.0E-4	.	90	A8MZ36	EVPLL_HUMAN	V	90	ENSP00000382086:A90V	ENSP00000382086:A90V	A	+	2	0	EVPLL	18225692	0.870000	0.30015	0.970000	0.41538	0.179000	0.23085	0.687000	0.25407	0.432000	0.26286	0.074000	0.15403	GCC	EVPLL	-	NULL	ENSG00000214860		0.632	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EVPLL	HGNC	protein_coding	OTTHUMT00000130836.2		0	66	0	C	NM_001145127		18284967	1			no_errors	ENST00000399134	ensembl	human	novel	74_37	missense	9.09	40	4	SNP	0.998	T	T	18284967	C	T	18284967	3	4	163	1	0	0	0	0	1	0	0	0	5309	739	26	3	279	3	EVPLL	17	18284967	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	7851984	18284967	62910243	285	41490											
WSB1	26118	genome.wustl.edu	37	chr17	25637196	25637196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttgcaagccttgctgatGataagtaagtatgtgcatta	12	14	10	5	0	0	2	0	2	0	0	0	2	0	2	1	0	4	6	1	0	5	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:25637196G>A	ENST00000262394.2	+	7	1310	c.994G>A	c.(994-996)Gat>Aat	p.D332N	WSB1_ENST00000348811.2_Missense_Mutation_p.D186N	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	332					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCTTGCTGATGATAAGTAAGT	0.408																																																	0													195	163	174					17																	25637196		2203	4300	6503	SO:0001583	missense	0			AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"WD repeat domain containing"	19221	protein-coding gene	gene with protein product		610091	"WD repeat and SOCS box-containing 1"			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.994G>A	17.37:g.25637196G>A	ENSP00000262394:p.Asp332Asn		Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D332N	ENST00000262394.2	37	c.994	CCDS11220.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.873549	0.97049	.	.	ENSG00000109046	ENST00000262394;ENST00000348811	D;D	0.88975	-2.45;-2.45	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.95300	0.8475	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95311	0.8412	10	0.87932	D	0	-11.2406	19.3347	0.94312	0.0:0.0:1.0:0.0	.	186;332	Q9Y6I7-2;Q9Y6I7	.;WSB1_HUMAN	N	332;186	ENSP00000262394:D332N;ENSP00000327055:D186N	ENSP00000262394:D332N	D	+	1	0	WSB1	22661323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.580000	0.98207	2.798000	0.96311	0.655000	0.94253	GAT	WSB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109046		0.408	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSB1	HGNC	protein_coding	OTTHUMT00000255391.4	-	0	33	0	G	NM_015626		25637196	1	tier1	-	no_errors	ENST00000262394	ensembl	human	known	74_37	missense	35.48	20	11	SNP	1.000	A	A	25637196	G	A	25637196	3	1	163	1	0	0	0	0	1	0	0	0	17453	1290	45	3	1020	3	WSB1	17	25637196	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	7352229	25637196	55558014	286	41491											
SSH2	85464	genome.wustl.edu	37	chr17	27959375	27959375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggacaaatgaatgttctGggggggcttcatcacttttc	9	13	12	7	0	3	2	2	2	1	0	4	3	3	3	0	4	0	2	0	4	2	4	rs376316249		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:27959375G>A	ENST00000269033.3	-	15	2907	c.2756C>T	c.(2755-2757)cCa>cTa	p.P919L	SSH2_ENST00000540801.1_Missense_Mutation_p.P946L|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					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						TGAATGTTCTGGGGGGGCTTC	0.483																																																	0													181	194	190					17																	27959375		2203	4300	6503	SO:0001583	missense	0			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.2756C>T	17.37:g.27959375G>A	ENSP00000269033:p.Pro919Leu		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.P919L	ENST00000269033.3	37	c.2756	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	G	7.009	0.556354	0.13436	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.07216	3.21;3.21	5.63	-0.815	0.10843	.	1.772590	0.02127	N	0.056052	T	0.03608	0.0103	N	0.04203	-0.255	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34800	-0.9814	10	0.09338	T	0.73	2.0259	4.539	0.12047	0.2727:0.1087:0.5097:0.1088	.	946;919	F5H527;Q76I76	.;SSH2_HUMAN	L	919;946	ENSP00000269033:P919L;ENSP00000444743:P946L	ENSP00000269033:P919L	P	-	2	0	SSH2	24983501	0.001000	0.12720	0.023000	0.16930	0.974000	0.67602	-0.261000	0.08694	-0.032000	0.13758	0.579000	0.79373	CCA	SSH2	-	NULL	ENSG00000141298		0.483	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1		0	40	0	G	NM_033389		27959375	-1			no_errors	ENST00000269033	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.003	A	A	27959375	G	A	27959375	3	1	163	1	0	0	0	0	1	0	0	0	15232	1348	47	3	1519	3	SSH2	17	27959375	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2322179	27959375	53235835	287	41492											
CCL16	6360	genome.wustl.edu	37	chr17	34308432	34308432	+	Missense_Mutation	SNP	A	A	G	1	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	aaggatgaggacaaggagagAcagggcagcctcggagacct	14	3	16	8	1	0	3	0	1	0	2	1	8	0	6	2	5	1	1	2	5	2	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:34308432A>G	ENST00000293275.3	-	1	100	c.25T>C	c.(25-27)Tct>Cct	p.S9P		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	9					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAAGGAGAGACAGGGCAGCC	0.557																																																	0													77	58	64					17																	34308432		2203	4300	6503	SO:0001583	missense	0			AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"Chemokine ligands", "Endogenous ligands"	10614	protein-coding gene	gene with protein product		601394	"small inducible cytokine subfamily A (Cys-Cys), member 16"	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.25T>C	17.37:g.34308432A>G	ENSP00000293275:p.Ser9Pro		Q4KKU0	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.S9P	ENST00000293275.3	37	c.25	CCDS11303.1	17	.	.	.	.	.	.	.	.	.	.	A	9.498	1.102469	0.20632	.	.	ENSG00000161573	ENST00000293275	T	0.03272	3.99	3.88	2.74	0.32292	.	1.364450	0.05339	N	0.529857	T	0.03434	0.0099	L	0.37697	1.125	0.09310	N	1	P	0.46277	0.875	B	0.35240	0.198	T	0.43294	-0.9400	10	0.36615	T	0.2	.	5.4594	0.16607	0.8591:0.0:0.1409:0.0	.	9	O15467	CCL16_HUMAN	P	9	ENSP00000293275:S9P	ENSP00000293275:S9P	S	-	1	0	CCL16	31332545	0.251000	0.23961	0.002000	0.10522	0.043000	0.13939	0.791000	0.26915	0.663000	0.31027	0.379000	0.24179	TCT	CCL16	-	NULL	ENSG00000161573		0.557	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL16	HGNC	protein_coding	OTTHUMT00000256579.1		0	51	0	A	NM_004590		34308432	-1			no_errors	ENST00000293275	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.007	G	G	34308432	A	G	34308432	3	3	163	1	0	0	0	0	1	0	0	0	2894	275	10	4	349	4	CCL16	17	34308432	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	6349057	34308432	46886778	288	41493											
ACACA	31	genome.wustl.edu	37	chr17	35545292	35545292	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagactcgtttgtcaggaaGaggcggatgggaattgcttt	9	11	14	7	2	1	2	1	0	0	2	2	5	1	5	1	4	1	2	1	4	2	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:35545292G>A	ENST00000394406.2	-	39	4780	c.4590C>T	c.(4588-4590)ctC>ctT	p.L1530L	ACACA_ENST00000335166.5_Silent_p.L1452L|ACACA_ENST00000360679.3_Silent_p.L1472L|ACACA_ENST00000353139.5_Silent_p.L1567L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1530					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)	TTGTCAGGAAGAGGCGGATGG	0.498																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													178	157	164					17																	35545292		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4590C>T	17.37:g.35545292G>A			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.L1567	ENST00000394406.2	37	c.4701	CCDS11317.1	17																																																																																			ACACA	-	pfam_AcCoA_COase_cen	ENSG00000132142		0.498	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0	100	0	G	NM_198836		35545292	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	silent	12.20	72	10	SNP	1.000	A	A	35545292	G	A	35545292	2	1	163	1	0	0	0	0	0	0	0	1	106	929	33	3		3	ACACA	17	35545292	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1236860	35545292	45649918	289	41494											
KRT23	25984	genome.wustl.edu	37	chr17	39081761	39081761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtgggagatgatctcttgCatgtcctggagcttgcagga	8	12	14	7	0	1	2	0	1	1	1	3	5	2	4	1	3	3	3	1	3	1	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:39081761C>T	ENST00000209718.3	-	7	1411	c.987G>A	c.(985-987)atG>atA	p.M329I	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.M192I	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	329	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGATCTCTTGCATGTCCTGGA	0.473																																																	0													174	134	147					17																	39081761		2203	4300	6503	SO:0001583	missense	0			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.987G>A	17.37:g.39081761C>T	ENSP00000209718:p.Met329Ile		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.M329I	ENST00000209718.3	37	c.987	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	C	8.958	0.969803	0.18659	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.87650	-2.28;-2.28	5.49	4.53	0.55603	Filament (1);	0.000000	0.64402	D	0.000003	T	0.71195	0.3311	N	0.16201	0.385	0.44221	D	0.997051	B	0.30326	0.276	B	0.32393	0.145	T	0.65776	-0.6086	10	0.02654	T	1	.	7.1278	0.25482	0.0:0.7095:0.1416:0.1488	.	329	Q9C075	K1C23_HUMAN	I	329;192	ENSP00000209718:M329I;ENSP00000414056:M192I	ENSP00000209718:M329I	M	-	3	0	KRT23	36335287	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	0.733000	0.26087	1.324000	0.45282	-0.140000	0.14226	ATG	KRT23	-	pfam_IF,prints_Keratin_I	ENSG00000108244		0.473	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1		0	50	0	C			39081761	-1			no_errors	ENST00000209718	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	39081761	C	T	39081761	3	4	163	1	0	0	0	0	1	0	0	0	8487	710	25	3	293	3	KRT23	17	39081761	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	3536469	39081761	42113449	290	41495											
PLCD3	113026	genome.wustl.edu	37	chr17	43192556	43192556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcagggtgcagggtcgcaggCgggtggcgtggcagtacaca	7	5	20	9	3	0	0	0	0	0	0	1	0	0	0	0	6	2	5	0	6	1	1	rs199969953		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:43192556C>T	ENST00000322765.5	-	10	1729	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	539	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GGGTCGCAGGCGGGTGGCGTG	0.672													C|||	1	0.000199681	0	0	5008	,	,		12363	0.001		0	False		,,,				2504	0																0								C	HIS/ARG	1,4133		0,1,2066	21	27	25		1616	0.5	1	17		25	5,8381		0,5,4188	yes	missense	PLCD3	NM_133373.3	29	0,6,6254	TT,TC,CC		0.0596,0.0242,0.0479	benign	539/790	43192556	6,12514	2067	4193	6260	SO:0001583	missense	0			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1616G>A	17.37:g.43192556C>T	ENSP00000313731:p.Arg539His		Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R539H	ENST00000322765.5	37	c.1616		17	.	.	.	.	.	.	.	.	.	.	C	0.254	-1.004273	0.02112	2.42E-4	5.96E-4	ENSG00000161714	ENST00000322765	T	0.66815	-0.23	4.22	0.533	0.17121	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.685583	0.14769	N	0.299499	T	0.53546	0.1803	.	.	.	0.28713	N	0.903458	D	0.59767	0.986	P	0.52598	0.703	T	0.50180	-0.8858	9	0.10111	T	0.7	.	4.0545	0.09810	0.1551:0.2938:0.4551:0.096	.	539	Q8N3E9	PLCD3_HUMAN	H	539	ENSP00000313731:R539H	ENSP00000313731:R539H	R	-	2	0	PLCD3	40548082	0.993000	0.37304	1.000000	0.80357	0.299000	0.27559	0.160000	0.16462	0.422000	0.26005	0.462000	0.41574	CGC	PLCD3	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000161714		0.672	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		-	0	75	0	C	NM_133373		43192556	-1	tier1	rs199969953	no_errors	ENST00000322765	ensembl	human	known	74_37	missense	14.08	61	10	SNP	0.997	T	T	43192556	C	T	43192556	3	4	163	1	0	0	0	0	1	0	0	0	12071	768	27	1	776	1	PLCD3	17	43192556	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	4110795	43192556	38002654	291	41496											
ITGA3	3675	genome.wustl.edu	37	chr17	48148781	48148781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgttcttgctgagccaGgaggcaggcggagacctgcg	6	7	18	10	3	1	2	0	1	1	1	1	4	1	3	2	5	3	3	2	5	0	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:48148781G>A	ENST00000320031.8	+	6	1188	c.858G>A	c.(856-858)caG>caA	p.Q286Q	ITGA3_ENST00000007722.7_Silent_p.Q286Q|ITGA3_ENST00000544892.1_Silent_p.Q61Q	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)	286					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						TGCTGAGCCAGGAGGCAGGCG	0.617																																																	0													45	45	45					17																	48148781		2203	4300	6503	SO:0001819	synonymous_variant	0			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.858G>A	17.37:g.48148781G>A			A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q286	ENST00000320031.8	37	c.858	CCDS11558.1	17																																																																																			ITGA3	-	smart_Int_alpha_beta-p	ENSG00000005884		0.617	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	HGNC	protein_coding	OTTHUMT00000366298.1	-	0	21	0	G	NM_005501		48148781	1	tier1	-	no_errors	ENST00000320031	ensembl	human	known	74_37	silent	36.36	14	8	SNP	0.942	A	A	48148781	G	A	48148781	2	1	163	1	0	0	0	0	0	0	0	1	7904	991	35	3		3	ITGA3	17	48148781	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	4956225	48148781	33046429	292	41497											
DHX40	79665	genome.wustl.edu	37	chr17	57644075	57644075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagattattcaagctgtgaGggacaattcattccttattg	13	14	8	6	0	2	2	2	1	0	1	3	3	3	3	1	1	1	1	1	1	5	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:57644075G>A	ENST00000251241.4	+	2	347	c.200G>A	c.(199-201)aGg>aAg	p.R67K	DHX40_ENST00000451169.2_5'UTR|DHX40_ENST00000425628.3_Intron	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	67	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CAAGCTGTGAGGGACAATTCA	0.363																																																	0													62	63	62					17																	57644075		2203	4300	6503	SO:0001583	missense	0			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"DEAH-boxes"	18018	protein-coding gene	gene with protein product		607570	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.200G>A	17.37:g.57644075G>A	ENSP00000251241:p.Arg67Lys		B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R67K	ENST00000251241.4	37	c.200	CCDS11617.1	17	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051711	0.36181	.	.	ENSG00000108406	ENST00000251241;ENST00000425628	T	0.07688	3.17	5.47	3.14	0.36123	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.353403	0.36134	N	0.002763	T	0.04272	0.0118	N	0.10837	0.055	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.40590	-0.9555	10	0.34782	T	0.22	.	7.5476	0.27777	0.1748:0.1427:0.6825:0.0	.	67	Q8IX18	DHX40_HUMAN	K	67	ENSP00000251241:R67K	ENSP00000251241:R67K	R	+	2	0	DHX40	54998857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.000000	0.29770	1.313000	0.45069	0.561000	0.74099	AGG	DHX40	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000108406		0.363	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX40	HGNC	protein_coding	OTTHUMT00000446095.1	-	0	122	0	G	NM_024612		57644075	1	tier1	-	no_errors	ENST00000251241	ensembl	human	known	74_37	missense	27.14	51	19	SNP	0.996	A	A	57644075	G	A	57644075	3	1	163	1	0	0	0	0	1	0	0	0	4526	1000	35	3	206	3	DHX40	17	57644075	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	9495294	57644075	23551135	293	41498											
SMARCD2	6603	genome.wustl.edu	37	chr17	61911928	61911928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgggtggtgggcatcCggtgccactggcagggaggg	4	8	19	10	1	1	0	0	0	1	0	3	1	2	1	3	7	1	2	3	7	0	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:61911928C>T	ENST00000448276.2	-	7	1092	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	SMARCD2_ENST00000323347.10_Missense_Mutation_p.R228Q|SMARCD2_ENST00000225742.9_Missense_Mutation_p.R201Q	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	276				HR -> YW (in Ref. 1; AAC50696). {ECO:0000305}.	ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GGTGGGCATCCGGTGCCACTG	0.602											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													125	124	124					17																	61911928		2056	4202	6258	SO:0001583	missense	0			U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.827G>A	17.37:g.61911928C>T	ENSP00000392617:p.Arg276Gln	1057	A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.R276Q	ENST00000448276.2	37	c.827	CCDS45756.1	17	.	.	.	.	.	.	.	.	.	.	.	17.01	3.278999	0.59758	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.55413	0.52;0.52	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	M	0.91717	3.235	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.994	D;P;P	0.72982	0.979;0.67;0.728	T	0.82671	-0.0342	10	0.87932	D	0	1.4501	17.0059	0.86393	0.0:1.0:0.0:0.0	.	228;239;276	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	Q	276;218;239;228	ENSP00000392617:R276Q;ENSP00000318451:R228Q	ENSP00000225742:R218Q	R	-	2	0	SMARCD2	59265660	0.988000	0.35896	1.000000	0.80357	0.903000	0.53119	5.926000	0.70070	2.885000	0.99019	0.643000	0.83706	CGG	SMARCD2	-	NULL	ENSG00000108604		0.602	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD2	HGNC	protein_coding	OTTHUMT00000444544.1		0	39	0	C	NM_001098426		61911928	-1			no_errors	ENST00000448276	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	61911928	C	T	61911928	3	4	163	1	0	0	0	0	1	0	0	0	14823	652	23	1	796	1	SMARCD2	17	61911928	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	4267853	61911928	19283282	294	41499											
FLJ35220	284131	genome.wustl.edu	37	chr17	78399375	78399375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaggccgctgtgcgcctGacttgctgctgctgcaggtt	3	11	15	12	2	0	1	0	1	0	0	0	2	0	2	2	3	5	6	2	3	0	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr17:78399375G>A	ENST00000518137.1	+	7	697	c.669G>A	c.(667-669)ctG>ctA	p.L223L	ENDOV_ENST00000518907.1_Silent_p.L29L|ENDOV_ENST00000517795.1_Silent_p.L29L|ENDOV_ENST00000323854.5_Silent_p.L178L|ENDOV_ENST00000522751.1_Silent_p.L29L|ENDOV_ENST00000520367.1_Silent_p.L178L|ENDOV_ENST00000520284.1_Silent_p.L29L|ENDOV_ENST00000518901.1_Silent_p.L29L|ENDOV_ENST00000517295.2_Silent_p.L151L	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	223					DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566)			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CTGTGCGCCTGACTTGCTGCT	0.682								Direct reversal of damage																																									0													18	22	21					17																	78399375		2070	4220	6290	SO:0001819	synonymous_variant	0				CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818			26640	protein-coding gene	gene with protein product						12853604	Standard	NM_001164638		Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000518137.1:c.669G>A	17.37:g.78399375G>A			I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Missense_Mutation	SNP	NULL	p.D108N	ENST00000518137.1	37	c.322	CCDS54172.1	17																																																																																			ENDOV	-	NULL	ENSG00000173818		0.682	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENDOV	HGNC	protein_coding	OTTHUMT00000379487.1	-	0	29	0	G	NM_173627		78399375	1	tier1	-	no_errors	ENST00000520484	ensembl	human	known	74_37	missense	35.06	50	27	SNP	0.952	A	A	78399375	G	A	78399375	2	1	163	1	0	0	0	0	0	0	0	1	5949	1277	45	3		3	FLJ35220	17	78399375	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	16487447	78399375	2795835	295	41500											
CETN1	1068	genome.wustl.edu	37	chr18	580763	580763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttgatgacgatgagaccGggaagatctcgttcaaaaac	13	10	10	8	3	3	4	1	3	2	2	4	7	3	5	1	1	1	1	1	1	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr18:580763G>C	ENST00000327228.3	+	1	397	c.355G>C	c.(355-357)Ggg>Cgg	p.G119R		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	119	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CGATGAGACCGGGAAGATCTC	0.532																																																	0													83	86	85					18																	580763		2203	4300	6503	SO:0001583	missense	0			U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"EF-hand domain containing"	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.355G>C	18.37:g.580763G>C	ENSP00000319052:p.Gly119Arg		B2R536	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.G119R	ENST00000327228.3	37	c.355	CCDS11820.1	18	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512774	0.64522	.	.	ENSG00000177143	ENST00000327228	T	0.69040	-0.37	5.2	5.2	0.72013	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86628	0.5978	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89711	0.3912	10	0.87932	D	0	.	16.6478	0.85181	0.0:0.0:1.0:0.0	.	119	Q12798	CETN1_HUMAN	R	119	ENSP00000319052:G119R	ENSP00000319052:G119R	G	+	1	0	CETN1	570763	1.000000	0.71417	0.927000	0.36925	0.178000	0.23041	9.629000	0.98417	2.882000	0.98803	0.655000	0.94253	GGG	CETN1	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000177143		0.532	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN1	HGNC	protein_coding	OTTHUMT00000254314.2		0	40	0	G	NM_004066		580763	1			no_errors	ENST00000327228	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	C	C	580763	G	C	580763	3	2	163	1	0	0	0	0	1	0	0	0	3281	1116	39	5	357	5	CETN1	18	580763	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		580763	77496485	296	41501											
ZNF521	25925	genome.wustl.edu	37	chr18	22669454	22669454	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctgtttggaagaaaaacTtctgtggacattgtgtacag	11	13	11	6	0	2	1	0	0	2	1	2	3	2	3	0	2	2	3	0	2	4	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr18:22669454T>G	ENST00000361524.3	-	7	4029	c.3881A>C	c.(3880-3882)aAg>aCg	p.K1294T	ZNF521_ENST00000538137.2_Missense_Mutation_p.K1294T|ZNF521_ENST00000584787.1_Missense_Mutation_p.K1074T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1294					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)					GAAGAAAAACTTCTGTGGACA	0.403			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													173	161	165					18																	22669454		2203	4300	6503	SO:0001583	missense	0			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.3881A>C	18.37:g.22669454T>G	ENSP00000354794:p.Lys1294Thr		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K1294T	ENST00000361524.3	37	c.3881	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	T	14.33	2.501824	0.44455	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T	0.27104	1.69	5.96	5.96	0.96718	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.35970	0.0950	N	0.24115	0.695	0.58432	D	0.999991	D	0.76494	0.999	D	0.85130	0.997	T	0.09796	-1.0658	10	0.16420	T	0.52	-32.35	16.42	0.83755	0.0:0.0:0.0:1.0	.	1294	Q96K83	ZN521_HUMAN	T	1294;1328;1294	ENSP00000354794:K1294T	ENSP00000354794:K1294T	K	-	2	0	ZNF521	20923452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.694000	0.84235	2.270000	0.75569	0.528000	0.53228	AAG	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.403	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	69	0	T	NM_015461		22669454	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	12.86	61	9	SNP	1.000	G	G	22669454	T	G	22669454	3	3	163	1	0	0	0	0	1	0	0	0	18013	1609	56	4	62	4	ZNF521	18	22669454	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	22088691	22669454	55407794	297	41502											
ZNF521	25925	genome.wustl.edu	37	chr18	22805957	22805957	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgtctagggatgtgtacTtagcaccacattgattacag	11	12	10	8	0	1	1	0	1	1	0	1	2	1	2	1	1	4	3	1	1	4	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr18:22805957T>G	ENST00000361524.3	-	4	2073	c.1925A>C	c.(1924-1926)aAg>aCg	p.K642T	ZNF521_ENST00000538137.2_Missense_Mutation_p.K642T|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.K422T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	642					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)					GGATGTGTACTTAGCACCACA	0.473			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													163	149	154					18																	22805957		2203	4300	6503	SO:0001583	missense	0			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.1925A>C	18.37:g.22805957T>G	ENSP00000354794:p.Lys642Thr		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K642T	ENST00000361524.3	37	c.1925	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	T	10.13	1.266099	0.23136	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.75260	-0.92;-0.92	5.86	5.86	0.93980	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	N	0.10618	0.0049999999999999	0.45056	D	0.998072	D	0.76494	0.999	D	0.75484	0.986	T	0.70788	-0.4777	10	0.15952	T	0.53	-31.3086	16.5602	0.84551	0.0:0.0:0.0:1.0	.	642	Q96K83	ZN521_HUMAN	T	642;676;642	ENSP00000354794:K642T;ENSP00000382352:K642T	ENSP00000354794:K642T	K	-	2	0	ZNF521	21059955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.896000	0.69822	2.367000	0.80283	0.528000	0.53228	AAG	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	19	0	T	NM_015461		22805957	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	40.00	12	8	SNP	1.000	G	G	22805957	T	G	22805957	3	3	163	1	0	0	0	0	1	0	0	0	18013	1609	56	4	2030	4	ZNF521	18	22805957	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	136503	22805957	55271291	298	41503											
B4GALT6	9331	genome.wustl.edu	37	chr18	29264294	29264294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgatgcctggggccacataGatgaagtacagacaggacga	13	5	13	10	2	0	3	0	1	0	2	0	6	0	4	3	3	2	1	3	3	3	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr18:29264294G>A	ENST00000306851.5	-	1	392	c.96C>T	c.(94-96)atC>atT	p.I32I	B4GALT6_ENST00000383131.3_Silent_p.I32I|RP11-549B18.1_ENST00000565978.1_RNA|B4GALT6_ENST00000237019.7_Silent_p.I32I	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	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)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			GGGCCACATAGATGAAGTACA	0.552																																																	0													175	147	157					18																	29264294		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"Beta 4-glycosyltransferases"	929	protein-coding gene	gene with protein product	"UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.96C>T	18.37:g.29264294G>A			O60514|Q6NT09	Silent	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.I32	ENST00000306851.5	37	c.96	CCDS11900.1	18																																																																																			B4GALT6	-	NULL	ENSG00000118276		0.552	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT6	HGNC	protein_coding	OTTHUMT00000254942.2	-	0	66	0	G	NM_004775		29264294	-1	tier1	-	no_errors	ENST00000306851	ensembl	human	known	74_37	silent	6.15	183	12	SNP	1.000	A	A	29264294	G	A	29264294	2	1	163	1	0	0	0	0	0	0	0	1	1276	932	33	3		3	B4GALT6	18	29264294	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	6458337	29264294	48812954	299	41504											
C18orf34	374864	genome.wustl.edu	37	chr18	30846889	30846889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcaaatttacctttcattgGtttttactgttattttgtta	8	23	5	5	0	1	0	1	0	0	0	1	0	1	0	1	1	3	4	1	1	5	11			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr18:30846889G>T	ENST00000383096.3	-	14	1582	c.1400C>A	c.(1399-1401)aCc>aAc	p.T467N	CCDC178_ENST00000579947.1_Missense_Mutation_p.T467N|CCDC178_ENST00000406524.2_Missense_Mutation_p.T467N|CCDC178_ENST00000300227.8_Missense_Mutation_p.T467N|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.T467N|CCDC178_ENST00000402325.1_Missense_Mutation_p.T467N|CCDC178_ENST00000583930.1_Missense_Mutation_p.T467N			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	467																	CCTTTCATTGGTTTTTACTGT	0.294																																																	0													50	48	49					18																	30846889		2198	4289	6487	SO:0001583	missense	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1400C>A	18.37:g.30846889G>T	ENSP00000372576:p.Thr467Asn		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.T467N	ENST00000383096.3	37	c.1400	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	G	3.173	-0.169480	0.06461	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.05	2.89	0.33648	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B;B;B;B	0.24317	0.101;0.009;0.009;0.009	B;B;B;B	0.27796	0.083;0.004;0.004;0.004	T	0.23868	-1.0176	9	0.33940	T	0.23	-3.9145	6.5402	0.22377	0.891:0.0:0.109:0.0	.	467;467;467;467	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	N	467	ENSP00000385591:T467N;ENSP00000372576:T467N;ENSP00000300227:T467N;ENSP00000385867:T467N;ENSP00000385234:T467N	ENSP00000300227:T467N	T	-	2	0	C18orf34	29100887	0.006000	0.16342	0.092000	0.20876	0.007000	0.05969	1.357000	0.34090	0.884000	0.36064	-0.606000	0.04082	ACC	CCDC178	-	NULL	ENSG00000166960		0.294	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2	-	0	47	0	G	NM_198995		30846889	-1	tier1	-	no_errors	ENST00000406524	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.126	T	T	30846889	G	T	30846889	3	4	163	1	0	0	0	0	1	0	0	0	1909	1261	44	3	1243	3	C18orf34	18	30846889	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1582595	30846889	47230359	300	41505											
SYT4	6860	genome.wustl.edu	37	chr18	40850380	40850380	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctctttccagtgctctcCaccagttccttctgctgctg	4	15	7	15	0	3	0	0	0	3	0	7	1	5	0	4	0	3	4	4	0	0	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr18:40850380C>A	ENST00000255224.3	-	4	1572	c.1204G>T	c.(1204-1206)Gga>Tga	p.G402*	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Nonsense_Mutation_p.G384*	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	402					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						CAGTGCTCTCCACCAGTTCCT	0.478																																					NSCLC(85;81 1419 2855 22820 35912)												0													159	159	159					18																	40850380		2203	4300	6503	SO:0001587	stop_gained	0			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.1204G>T	18.37:g.40850380C>A	ENSP00000255224:p.Gly402*		B4DEU3|Q9P2K4	Nonsense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.G402*	ENST00000255224.3	37	c.1204	CCDS11922.1	18	.	.	.	.	.	.	.	.	.	.	C	40	8.099758	0.98654	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	19.5717	0.95423	0.0:1.0:0.0:0.0	.	.	.	.	X	402;207	.	ENSP00000255224:G402X	G	-	1	0	SYT4	39104378	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	7.247000	0.78257	2.644000	0.89710	0.655000	0.94253	GGA	SYT4	-	superfamily_C2_dom,smart_C2_dom	ENSG00000132872		0.478	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	-	0	63	0	C	NM_020783		40850380	-1	tier1	-	no_errors	ENST00000255224	ensembl	human	known	74_37	nonsense	15.38	22	4	SNP	1.000	A	A	40850380	C	A	40850380	4	1	163	1	0	0	0	0	0	1	0	0	15523	603	21	3	77	3	SYT4	18	40850380	Nonsense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	10003491	40850380	37226868	301	41506											
SMAD4	4089	genome.wustl.edu	37	chr18	48591903	48591903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgttgatggatacgtggacCcttctggaggagatcgcttt	7	13	13	8	2	1	2	0	1	1	1	2	6	1	5	1	4	1	2	1	4	1	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr18:48591903C>T	ENST00000342988.3	+	9	1604	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	SMAD4_ENST00000588745.1_Missense_Mutation_p.P260S|SMAD4_ENST00000398417.2_Missense_Mutation_p.P356S	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	356	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATACGTGGACCCTTCTGGAGG	0.433																																																	38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											211	176	188					18																	48591903		2203	4300	6503	SO:0001583	missense	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1066C>T	18.37:g.48591903C>T	ENSP00000341551:p.Pro356Ser		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.P356S	ENST00000342988.3	37	c.1066	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	34	5.317508	0.95682	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.97404	-4.37;-4.37	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98670	0.9554	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99486	1.0949	10	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	356	Q13485	SMAD4_HUMAN	S	356	ENSP00000341551:P356S;ENSP00000381452:P356S	ENSP00000341551:P356S	P	+	1	0	SMAD4	46845901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.929000	0.70096	2.771000	0.95319	0.563000	0.77884	CCT	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.433	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	-	0	75	0	C	NM_005359		48591903	1	tier1	-	no_errors	ENST00000342988	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	T	T	48591903	C	T	48591903	3	4	163	1	0	0	0	0	1	0	0	0	14805	623	22	3	1096	3	SMAD4	18	48591903	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	7741523	48591903	29485345	302	41507											
DCC	1630	genome.wustl.edu	37	chr18	50731590	50731590	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatttttttatacagtgcaAgttccagggccagtagaaaa	13	14	8	6	0	0	1	0	0	0	1	1	1	1	1	2	1	2	3	2	1	7	8			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr18:50731590A>C	ENST00000442544.2	+	10	2194	c.1578A>C	c.(1576-1578)caA>caC	p.Q526H	DCC_ENST00000581580.1_Missense_Mutation_p.Q181H|DCC_ENST00000412726.1_Missense_Mutation_p.Q374H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	526					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)		ATACAGTGCAAGTTCCAGGGC	0.373																																																	0													132	141	138					18																	50731590		2203	4300	6503	SO:0001583	missense	0			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.1578A>C	18.37:g.50731590A>C	ENSP00000389140:p.Gln526His			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q526H	ENST00000442544.2	37	c.1578	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	A	11.55	1.672955	0.29693	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.54675	0.66;0.56	5.78	5.78	0.91487	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.071257	0.56097	D	0.000029	T	0.53110	0.1776	L	0.49126	1.545	0.41166	D	0.986136	B;B;B	0.23442	0.006;0.006;0.085	B;B;B	0.33196	0.021;0.021;0.159	T	0.53208	-0.8471	10	0.52906	T	0.07	.	15.0889	0.72177	1.0:0.0:0.0:0.0	.	374;374;526	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	H	526;459;374	ENSP00000389140:Q526H;ENSP00000397322:Q374H	ENSP00000304146:Q459H	Q	+	3	2	DCC	48985588	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	3.670000	0.54569	2.197000	0.70478	0.533000	0.62120	CAA	DCC	-	superfamily_Fibronectin_type3	ENSG00000187323		0.373	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	58	0	A	NM_005215		50731590	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	19.44	29	7	SNP	1.000	C	C	50731590	A	C	50731590	3	2	163	1	0	0	0	0	1	0	0	0	4291	69	3	4	1616	4	DCC	18	50731590	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	2139687	50731590	27345658	303	41508											
TJP3	27134	genome.wustl.edu	37	chr19	3738902	3738902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgctctccccagttttctgGaaaatggtgcagtcccgcgt	6	11	10	14	3	2	0	0	0	2	0	4	1	3	1	4	2	1	3	4	2	2	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr19:3738902G>T	ENST00000541714.2	+	13	1863	c.1401G>T	c.(1399-1401)tgG>tgT	p.W467C	TJP3_ENST00000382008.3_Missense_Mutation_p.W481C|TJP3_ENST00000262968.9_Missense_Mutation_p.W500C|TJP3_ENST00000539908.2_Missense_Mutation_p.W431C|TJP3_ENST00000589378.1_Missense_Mutation_p.W476C|TJP3_ENST00000587686.1_Missense_Mutation_p.W486C	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	467					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTTTTCTGGAAAATGGTGC	0.642																																																	0													65	63	64					19																	3738902		2203	4299	6502	SO:0001583	missense	0			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1401G>T	19.37:g.3738902G>T	ENSP00000439278:p.Trp467Cys		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens	p.W500C	ENST00000541714.2	37	c.1500	CCDS32873.2	19	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646160	0.29246	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.27	0.729	0.18266	PDZ/DHR/GLGF (1);	0.476802	0.20691	N	0.087441	T	0.32133	0.0819	N	0.08118	0	0.20926	N	0.999823	P;P;P;P	0.46395	0.766;0.663;0.654;0.877	P;B;B;P	0.50136	0.548;0.195;0.346;0.632	T	0.18116	-1.0347	10	0.87932	D	0	.	6.7395	0.23428	0.1685:0.4196:0.412:0.0	.	486;500;481;467	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	C	467;431;481;500	ENSP00000439278:W467C;ENSP00000439991:W431C;ENSP00000371438:W481C;ENSP00000262968:W500C	ENSP00000262968:W500C	W	+	3	0	TJP3	3689902	0.993000	0.37304	0.909000	0.35828	0.639000	0.38242	1.105000	0.31086	0.069000	0.16605	0.485000	0.47835	TGG	TJP3	-	superfamily_PDZ	ENSG00000105289		0.642	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP3	HGNC	protein_coding	OTTHUMT00000453434.1	-	0	29	0	G			3738902	1	tier1	-	no_errors	ENST00000262968	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.143	T	T	3738902	G	T	3738902	3	4	163	1	0	0	0	0	1	0	0	0	15978	1183	41	3	1546	3	TJP3	19	3738902	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		3738902	55390081	304	41509											
C3	718	genome.wustl.edu	37	chr19	6684428	6684428	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcaaggatcatagtgttCttggcatcctgaggcctctt	8	14	9	10	0	4	1	2	1	3	0	6	2	5	2	2	3	0	2	2	3	2	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr19:6684428C>T	ENST00000245907.6	-	33	4235	c.4143G>A	c.(4141-4143)aaG>aaA	p.K1381K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1381					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)	TCATAGTGTTCTTGGCATCCT	0.453																																																	0													138	138	138					19																	6684428		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4143G>A	19.37:g.6684428C>T			A7E236	Silent	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.K1381	ENST00000245907.6	37	c.4143	CCDS32883.1	19																																																																																			C3	-	superfamily_A-macroglobulin_rcpt-bd	ENSG00000125730		0.453	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2		0	71	0	C	NM_000064		6684428	-1			no_errors	ENST00000245907	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.294	T	T	6684428	C	T	6684428	2	4	163	1	0	0	0	0	0	0	0	1	2211	912	32	3		3	C3	19	6684428	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	2945526	6684428	52444555	305	41510											
ZNF317	57693	genome.wustl.edu	37	chr19	9271408	9271408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgggggagaagccctacGcgtgcacgcagtgcggcaaa	11	3	15	12	5	0	1	0	0	0	1	0	2	0	1	1	3	4	3	1	3	3	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr19:9271408G>T	ENST00000247956.6	+	7	1392	c.1087G>T	c.(1087-1089)Gcg>Tcg	p.A363S	ZNF317_ENST00000360385.3_Missense_Mutation_p.A331S	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GAAGCCCTACGCGTGCACGCA	0.552																																																	0													39	39	39					19																	9271408		2203	4300	6503	SO:0001583	missense	0			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1087G>T	19.37:g.9271408G>T	ENSP00000247956:p.Ala363Ser		Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A363S	ENST00000247956.6	37	c.1087	CCDS12210.1	19	.	.	.	.	.	.	.	.	.	.	G	7.104	0.574725	0.13623	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.36340	1.26;1.26	3.04	0.857	0.19025	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.346348	0.20914	N	0.083413	T	0.20941	0.0504	L	0.27944	0.81	0.09310	N	1	B;B	0.23650	0.001;0.089	B;B	0.26310	0.001;0.068	T	0.16247	-1.0409	10	0.66056	D	0.02	-9.2635	2.8602	0.05584	0.2505:0.0:0.5319:0.2176	.	331;363	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	S	363;331	ENSP00000247956:A363S;ENSP00000353554:A331S	ENSP00000247956:A363S	A	+	1	0	ZNF317	9132408	0.000000	0.05858	0.007000	0.13788	0.442000	0.32017	-0.709000	0.05030	0.337000	0.23665	0.491000	0.48974	GCG	ZNF317	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130803		0.552	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF317	HGNC	protein_coding	OTTHUMT00000448995.1	-	0	42	0	G	NM_020933		9271408	1	tier1	-	no_errors	ENST00000247956	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.000	T	T	9271408	G	T	9271408	3	4	163	1	0	0	0	0	1	0	0	0	17883	1087	38	2	1109	2	ZNF317	19	9271408	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2586980	9271408	49857575	306	41511											
FCHO1	23149	genome.wustl.edu	37	chr19	17877516	17877516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggtcttccgcgtctcctCggacaagctggcgctgtgcc	4	9	14	14	4	2	0	0	0	2	0	5	2	3	2	3	4	2	2	3	4	1	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr19:17877516C>T	ENST00000596536.1	+	7	516	c.233C>T	c.(232-234)tCg>tTg	p.S78L	FCHO1_ENST00000252771.7_Missense_Mutation_p.S78L|FCHO1_ENST00000594202.1_Missense_Mutation_p.S78L|FCHO1_ENST00000595033.1_Missense_Mutation_p.S28L|FCHO1_ENST00000389133.4_Missense_Mutation_p.S78L|FCHO1_ENST00000600676.1_Missense_Mutation_p.S78L|FCHO1_ENST00000539407.1_Missense_Mutation_p.S78L|FCHO1_ENST00000596951.1_Missense_Mutation_p.S78L|FCHO1_ENST00000597512.1_Missense_Mutation_p.S85L	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	78	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGCGTCTCCTCGGACAAGCTG	0.637																																																	0													52	43	46					19																	17877516		2203	4300	6503	SO:0001583	missense	0			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.233C>T	19.37:g.17877516C>T	ENSP00000470731:p.Ser78Leu		A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom	p.S78L	ENST00000596536.1	37	c.233	CCDS32955.1	19	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878535	0.72294	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.38401	1.14;1.14;1.14	5.05	5.05	0.67936	Fps/Fes/Fer/CIP4 homology (3);	0.236984	0.37437	N	0.002086	T	0.23846	0.0577	N	0.15975	0.35	0.45648	D	0.998579	B;B;B	0.33512	0.365;0.415;0.152	B;B;B	0.34242	0.098;0.178;0.077	T	0.07986	-1.0744	10	0.32370	T	0.25	-8.2557	13.9458	0.64084	0.0:1.0:0.0:0.0	.	28;78;78	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	L	78	ENSP00000252771:S78L;ENSP00000373785:S78L;ENSP00000437978:S78L	ENSP00000252771:S78L	S	+	2	0	FCHO1	17738516	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	5.421000	0.66447	2.361000	0.80049	0.555000	0.69702	TCG	FCHO1	-	pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	ENSG00000130475		0.637	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	HGNC	protein_coding	OTTHUMT00000466946.2	-	0	50	0	C	NM_015122		17877516	1	tier1	-	no_errors	ENST00000252771	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.998	T	T	17877516	C	T	17877516	3	4	163	1	0	0	0	0	1	0	0	0	5809	893	31	1	247	1	FCHO1	19	17877516	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	8606108	17877516	41251467	307	41512											
DDX49	54555	genome.wustl.edu	37	chr19	19035489	19035489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatctaccggatcctgatcGcaacagacgtggcctcccgg	8	7	11	15	4	1	2	0	1	1	1	4	3	3	3	4	3	2	2	4	3	2	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr19:19035489G>T	ENST00000247003.4	+	8	977	c.910G>T	c.(910-912)Gca>Tca	p.A304S	DDX49_ENST00000599156.1_3'UTR|DDX49_ENST00000438170.2_Missense_Mutation_p.A197S|AC002985.3_ENST00000596918.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	304	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GATCCTGATCGCAACAGACGT	0.572																																																	0													88	89	89					19																	19035489		2203	4300	6503	SO:0001583	missense	0				CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"DEAD-boxes"	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.910G>T	19.37:g.19035489G>T	ENSP00000247003:p.Ala304Ser		E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A304S	ENST00000247003.4	37	c.910	CCDS12390.1	19	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958314	0.92726	.	.	ENSG00000105671	ENST00000247003;ENST00000438170	T;T	0.06768	3.26;3.26	4.77	4.77	0.60923	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.19644	0.0472	L	0.38838	1.175	0.80722	D	1	D;D	0.56746	0.977;0.977	D;D	0.64687	0.928;0.928	T	0.00950	-1.1503	10	0.72032	D	0.01	-18.693	16.7798	0.85560	0.0:0.0:1.0:0.0	.	304;304	A8K7A1;Q9Y6V7	.;DDX49_HUMAN	S	304;197	ENSP00000247003:A304S;ENSP00000395377:A197S	ENSP00000247003:A304S	A	+	1	0	DDX49	18896489	1.000000	0.71417	0.747000	0.31113	0.987000	0.75469	9.092000	0.94157	2.183000	0.69458	0.561000	0.74099	GCA	DDX49	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000105671		0.572	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX49	HGNC	protein_coding	OTTHUMT00000464593.1	-	0	94	0	G	NM_019070		19035489	1	tier1	-	no_errors	ENST00000247003	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	19035489	G	T	19035489	3	4	163	1	0	0	0	0	1	0	0	0	4375	1087	38	2	940	2	DDX49	19	19035489	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1157973	19035489	40093494	308	41513											
ZNF98	148198	genome.wustl.edu	37	chr19	22575277	22575277	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaattatcttatgtgtagTaaggtgtgagagccggttaa	12	14	12	3	1	1	2	0	2	1	1	1	3	1	2	1	2	1	3	1	2	6	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr19:22575277T>C	ENST00000357774.5	-	4	881	c.760A>G	c.(760-762)Act>Gct	p.T254A		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	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)			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)				TTATGTGTAGTAAGGTGTGAG	0.388																																																	0													2	2	2					19																	22575277		1182	2748	3930	SO:0001583	missense	0				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.760A>G	19.37:g.22575277T>C	ENSP00000350418:p.Thr254Ala			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T254A	ENST00000357774.5	37	c.760	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	4.873	0.162206	0.09287	.	.	ENSG00000197360	ENST00000357774	T	0.35605	1.3	1.41	-2.82	0.05787	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18045	0.0433	N	0.16790	0.44	0.09310	N	1	B	0.15141	0.012	B	0.17433	0.018	T	0.17228	-1.0376	9	0.39692	T	0.17	.	3.7978	0.08746	0.0:0.2768:0.3443:0.3788	.	254	A6NK75	ZNF98_HUMAN	A	254	ENSP00000350418:T254A	ENSP00000350418:T254A	T	-	1	0	ZNF98	22367117	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	0.447000	0.21710	-1.038000	0.03279	0.254000	0.18369	ACT	ZNF98	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197360		0.388	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	-	0	28	0	T	NM_001098626		22575277	-1	tier1	-	no_errors	ENST00000357774	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.000	C	C	22575277	T	C	22575277	3	2	163	1	0	0	0	0	1	0	0	0	18251	1638	57	4	962	4	ZNF98	19	22575277	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	3539788	22575277	36553706	309	41514											
ZNF790	388536	genome.wustl.edu	37	chr19	37309758	37309758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttccagtatgaattttctgGtgtcgattaagttctgaacc	9	17	8	7	1	2	2	0	2	2	0	4	3	3	2	2	1	1	2	2	1	4	6	rs144986787		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr19:37309758G>A	ENST00000356725.4	-	5	1608	c.1488C>T	c.(1486-1488)caC>caT	p.H496H	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	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			GAATTTTCTGGTGTCGATTAA	0.388																																																	0													96	91	92					19																	37309758		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1488C>T	19.37:g.37309758G>A				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H496	ENST00000356725.4	37	c.1488	CCDS12496.1	19																																																																																			ZNF790	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197863		0.388	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	-	0	58	0	G	NM_206894		37309758	-1	tier1	-	no_errors	ENST00000356725	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.996	A	A	37309758	G	A	37309758	2	1	163	1	0	0	0	0	0	0	0	1	18210	1252	44	3		3	ZNF790	19	37309758	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	14734481	37309758	21819225	310	41515											
ATP5SL	55101	genome.wustl.edu	37	chr19	41942337	41942337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggatgaaaaaggcacctgCgccgtatggaccatgttgct	11	8	12	10	2	0	1	0	1	0	0	0	3	0	3	3	3	2	4	3	3	3	2	rs373307297		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr19:41942337C>T	ENST00000221943.9	-	3	261	c.256G>A	c.(256-258)Gca>Aca	p.A86T	ATP5SL_ENST00000589970.1_Missense_Mutation_p.A86T|ATP5SL_ENST00000301183.11_Missense_Mutation_p.A92T|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000417807.3_Missense_Mutation_p.A92T|ATP5SL_ENST00000590641.2_Intron|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000595425.1_Intron|ATP5SL_ENST00000592922.2_Intron	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	86						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						AAGGCACCTGCGCCGTATGGA	0.562													C|||	1	0.000199681	0	0	5008	,	,		20004	0		0	False		,,,				2504	0.001																0								C	THR/ALA,THR/ALA,THR/ALA,,,THR/ALA	0,4406		0,0,2203	154	128	137		274,274,256,,,256	0.7	0	19		137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron,intron,missense	ATP5SL	NM_001167867.1,NM_001167868.1,NM_001167869.1,NM_001167870.1,NM_001167871.1,NM_018035.2	58,58,58,,,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,,,benign	92/264,92/192,86/186,,,86/258	41942337	1,13005	2203	4300	6503	SO:0001583	missense	0			AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.256G>A	19.37:g.41942337C>T	ENSP00000221943:p.Ala86Thr		B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	NULL	p.A92T	ENST00000221943.9	37	c.274	CCDS33032.1	19	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883307	0.51908	0.0	1.16E-4	ENSG00000105341	ENST00000221943;ENST00000417807;ENST00000301183;ENST00000507129	D;D;T	0.81908	-1.55;-1.55;0.9	4.11	0.727	0.18254	.	0.145956	0.43110	N	0.000614	T	0.73055	0.3538	M	0.75085	2.285	0.09310	N	0.999999	P;P;P;P	0.51351	0.74;0.74;0.855;0.944	B;B;B;B	0.29942	0.061;0.051;0.109;0.109	T	0.67534	-0.5646	10	0.56958	D	0.05	-27.9263	6.7322	0.23388	0.0:0.7016:0.0:0.2984	.	92;86;86;92	B4DDC0;B4DMZ4;Q9NW81;F5H4W7	.;.;AT5SL_HUMAN;.	T	86;92;92;162	ENSP00000221943:A86T;ENSP00000403910:A92T;ENSP00000301183:A92T	ENSP00000221943:A86T	A	-	1	0	ATP5SL	46634177	0.007000	0.16637	0.010000	0.14722	0.060000	0.15804	0.076000	0.14712	0.257000	0.21650	0.557000	0.71058	GCA	ATP5SL	-	NULL	ENSG00000105341		0.562	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5SL	HGNC	protein_coding	OTTHUMT00000460602.1	-	0	43	0	C	NM_018035		41942337	-1	tier1	-	no_errors	ENST00000417807	ensembl	human	known	74_37	missense	50.00	8	8	SNP	0.014	T	T	41942337	C	T	41942337	3	4	163	1	0	0	0	0	1	0	0	0	1165	768	27	1	533	1	ATP5SL	19	41942337	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	4632579	41942337	17186646	311	41516											
ASPDH	554235	genome.wustl.edu	37	chr19	51016201	51016201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccaggagattggcatggcGcaggatttgtgccccagatt	9	10	13	9	1	0	2	0	0	0	2	0	4	0	3	3	4	2	2	3	4	1	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr19:51016201G>A	ENST00000389208.4	-	3	326	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	JOSD2_ENST00000391815.3_5'Flank|ASPDH_ENST00000597030.1_Intron|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.R34C|JOSD2_ENST00000595669.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	89					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						TTGGCATGGCGCAGGATTTGT	0.577																																																	0													111	107	108					19																	51016201		2203	4300	6503	SO:0001583	missense	0				CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.265C>T	19.37:g.51016201G>A	ENSP00000373860:p.Arg89Cys		Q6NZ37	Missense_Mutation	SNP	pfam_Asp_DH,pfam_Asp/hSer_DH_NAD-bd	p.R89C	ENST00000389208.4	37	c.265	CCDS46153.1	19	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156417	0.57259	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.48201	0.87;0.82	3.82	1.28	0.21552	Aspartate/homoserine dehydrogenase, NAD-binding (1);NAD(P)-binding domain (1);	0.278453	0.30704	N	0.009057	T	0.50786	0.1636	L	0.59436	1.845	0.37387	D	0.912279	D;D	0.65815	0.995;0.994	P;P	0.54965	0.765;0.656	T	0.56019	-0.8048	10	0.59425	D	0.04	-6.6757	6.576	0.22567	0.0:0.1961:0.6036:0.2002	.	89;34	A6ND91;A6ND91-2	ASPD_HUMAN;.	C	34;89	ENSP00000366114:R34C;ENSP00000373860:R89C	ENSP00000366114:R34C	R	-	1	0	ASPDH	55708013	0.000000	0.05858	0.452000	0.26994	0.972000	0.66771	0.165000	0.16564	0.668000	0.31126	0.555000	0.69702	CGC	ASPDH	-	pfam_Asp/hSer_DH_NAD-bd	ENSG00000204653		0.577	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPDH	HGNC	protein_coding	OTTHUMT00000464861.1		0	29	0	G	NM_001024656		51016201	-1			no_errors	ENST00000389208	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.633	A	A	51016201	G	A	51016201	3	1	163	1	0	0	0	0	1	0	0	0	1052	1087	38	1	606	1	ASPDH	19	51016201	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	9073864	51016201	8112782	312	41517											
LENG8	114823	genome.wustl.edu	37	chr19	54963327	54963327	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatggcatggagacgccGatgcacgagaacccggagtg	12	4	16	9	4	0	3	0	0	0	3	0	8	0	4	2	3	2	2	2	3	2	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr19:54963327G>T	ENST00000326764.5	+	3	575	c.96G>T	c.(94-96)ccG>ccT	p.P32P	LENG8_ENST00000376514.2_Silent_p.P32P	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	0										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)		TGGAGACGCCGATGCACGAGA	0.622																																																	0													79	78	78					19																	54963327		2203	4300	6503	SO:0001819	synonymous_variant	0			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.96G>T	19.37:g.54963327G>T			B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.P32	ENST00000326764.5	37	c.96	CCDS12894.1	19																																																																																			LENG8	-	NULL	ENSG00000167615		0.622	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140523.2	-	0	90	0	G	NM_052925		54963327	1	tier1	-	no_errors	ENST00000326764	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.973	T	T	54963327	G	T	54963327	2	4	163	1	0	0	0	0	0	0	0	1	8752	1045	37	2		2	LENG8	19	54963327	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	3947126	54963327	4165656	313	41518											
NLRP4	147945	genome.wustl.edu	37	chr19	56382310	56382310	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctgaaggacgaaggactGaaaactctctgcgaggcctt	11	8	12	10	2	1	2	0	2	1	0	3	6	2	4	2	3	2	0	2	3	4	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr19:56382310G>A	ENST00000301295.6	+	7	2894	c.2472G>A	c.(2470-2472)ctG>ctA	p.L824L	NLRP4_ENST00000346986.5_Silent_p.L768L|NLRP4_ENST00000587891.1_Silent_p.L749L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	824					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)		ACGAAGGACTGAAAACTCTCT	0.502																																																	0													135	118	124					19																	56382310		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2472G>A	19.37:g.56382310G>A			Q86W87|Q96AY6	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L824	ENST00000301295.6	37	c.2472	CCDS12936.1	19																																																																																			NLRP4	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000160505		0.502	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	-	0	44	0	G	NM_134444		56382310	1	tier1	-	no_errors	ENST00000301295	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.004	A	A	56382310	G	A	56382310	2	1	163	1	0	0	0	0	0	0	0	1	10518	1277	45	3		3	NLRP4	19	56382310	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1418983	56382310	2746673	314	41519											
PEG3	5178	genome.wustl.edu	37	chr19	57325595	57325595	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggctcagcagcctccacTtctggctcggcagcctccac	5	9	9	18	1	3	0	1	0	2	0	6	0	5	0	4	3	3	4	4	3	0	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr19:57325595T>G	ENST00000326441.9	-	10	4578	c.4215A>C	c.(4213-4215)gaA>gaC	p.E1405D	PEG3_ENST00000598410.1_Missense_Mutation_p.E1281D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1405D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1279D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1405	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGCCTCCACTTCTGGCTCGG	0.572																																																	0													44	47	46					19																	57325595		2180	4254	6434	SO:0001583	missense	0			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.4215A>C	19.37:g.57325595T>G	ENSP00000326581:p.Glu1405Asp		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E1405D	ENST00000326441.9	37	c.4215	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454787	0.43634	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02737	4.18;4.18	3.93	-7.13	0.01532	.	0.000000	0.41823	D	0.000806	T	0.01800	0.0057	L	0.29908	0.895	.	.	.	P;P;P	0.47762	0.9;0.9;0.9	B;B;B	0.42112	0.376;0.376;0.376	T	0.19160	-1.0314	9	0.56958	D	0.05	-16.9672	4.9568	0.14046	0.129:0.5741:0.1304:0.1665	.	1281;1405;1340	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1405	ENSP00000326581:E1405D;ENSP00000403051:E1405D	ENSP00000326581:E1405D	E	-	3	2	ZIM2	62017407	0.000000	0.05858	0.018000	0.16275	0.428000	0.31595	-2.927000	0.00690	-1.613000	0.01577	-0.326000	0.08463	GAA	PEG3	-	NULL	ENSG00000198300		0.572	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	67	0	T			57325595	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	25.49	38	13	SNP	0.000	G	G	57325595	T	G	57325595	3	3	163	1	0	0	0	0	1	0	0	0	11759	1606	56	4	555	4	PEG3	19	57325595	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	943285	57325595	1803388	315	41520											
SLC23A2	9962	genome.wustl.edu	37	chr20	4854675	4854675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atactttgtgctgtcgggagGgaagacatctgtcaccgtga	9	11	13	8	2	2	2	1	1	1	1	3	4	2	4	1	2	2	1	1	2	2	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr20:4854675G>T	ENST00000379333.1	-	11	1401	c.1009C>A	c.(1009-1011)Cct>Act	p.P337T	SLC23A2_ENST00000338244.1_Missense_Mutation_p.P337T|SLC23A2_ENST00000424750.2_Missense_Mutation_p.P223T|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	337					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|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)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGTCGGGAGGGAAGACATCT	0.547																																																	0													144	122	130					20																	4854675		2203	4300	6503	SO:0001583	missense	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1009C>A	20.37:g.4854675G>T	ENSP00000368637:p.Pro337Thr		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.P337T	ENST00000379333.1	37	c.1009	CCDS13085.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368365|3.368365	0.61513|0.61513	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000423430|ENST00000379333;ENST00000338244;ENST00000424750	.|T;T;T	.|0.19532	.|2.14;2.14;2.14	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.099394|0.099394	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.46502|0.46502	0.1396|0.1396	M|M	0.62088|0.62088	1.915|1.915	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;1.0	T|T	0.29518|0.29518	-1.0009|-1.0009	6|10	.|0.59425	.|D	.|0.04	-13.1768|-13.1768	18.4213|18.4213	0.90591|0.90591	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|223;337;337	.|B4DJZ1;A0MSJ5;Q9UGH3	.|.;.;S23A2_HUMAN	H|T	93|337;337;223	.|ENSP00000368637:P337T;ENSP00000344322:P337T;ENSP00000406601:P223T	.|ENSP00000344322:P337T	P|P	-|-	2|1	0|0	SLC23A2|SLC23A2	4802675|4802675	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.006000|0.006000	0.05464|0.05464	9.761000|9.761000	0.98940|0.98940	2.698000|2.698000	0.92095|0.92095	0.655000|0.655000	0.94253|0.94253	CCC|CCT	SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.547	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	-	0	57	0	G			4854675	-1	tier1	-	no_errors	ENST00000338244	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	T	T	4854675	G	T	4854675	3	4	163	1	0	0	0	0	1	0	0	0	14508	1232	43	3	971	3	SLC23A2	20	4854675	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		4854675	58170845	316	41521											
KIF16B	55614	genome.wustl.edu	37	chr20	16407773	16407773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	atttagatgtgtggcctccaCgatctgaacaccattcacag	11	11	8	11	1	2	2	1	1	1	1	3	3	3	2	3	1	1	0	3	1	2	3	rs193920855		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr20:16407773C>T	ENST00000354981.2	-	15	1745	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M	KIF16B_ENST00000378003.2_De_novo_Start_InFrame|KIF16B_ENST00000355755.3_Missense_Mutation_p.V530M|KIF16B_ENST00000408042.1_Missense_Mutation_p.V530M	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	530					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GTGGCCTCCACGATCTGAACA	0.443																																																	0													138	147	144					20																	16407773		2203	4300	6503	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1588G>A	20.37:g.16407773C>T	ENSP00000347076:p.Val530Met		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.V530M	ENST00000354981.2	37	c.1588	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	9.695	1.152810	0.21371	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	D;D;D	0.86627	-2.15;-2.15;-2.15	5.62	-4.12	0.03916	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	1.077620	0.07022	N	0.827019	T	0.74951	0.3784	L	0.31476	0.935	0.09310	N	0.999998	B;B;B;B	0.14012	0.006;0.009;0.006;0.007	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.58014	-0.7711	10	0.34782	T	0.22	.	3.8204	0.08833	0.0926:0.3788:0.1824:0.3462	.	530;530;530;530	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	M	530	ENSP00000347076:V530M;ENSP00000347995:V530M;ENSP00000384164:V530M	ENSP00000347076:V530M	V	-	1	0	KIF16B	16355773	0.000000	0.05858	0.853000	0.33588	0.989000	0.77384	-0.382000	0.07408	-0.340000	0.08388	-0.247000	0.11927	GTG	KIF16B	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain	ENSG00000089177		0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2		0	86	0	C	NM_017683		16407773	-1			no_errors	ENST00000408042	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.000	T	T	16407773	C	T	16407773	3	4	163	1	0	0	0	0	1	0	0	0	8305	536	19	1	2413	1	KIF16B	20	16407773	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	11553098	16407773	46617747	317	41522											
RRBP1	6238	genome.wustl.edu	37	chr20	17641080	17641080	+	Missense_Mutation	SNP	T	T	A	0	1	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	gaaagtcgacaccaggaagaTgccaatggcagaaacaacca	18	3	10	10	1	0	2	0	0	0	2	1	5	0	3	3	2	3	1	3	2	5	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr20:17641080T>A	ENST00000377813.1	-	3	376	c.73A>T	c.(73-75)Atc>Ttc	p.I25F	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Missense_Mutation_p.I25F|RRBP1_ENST00000246043.4_Missense_Mutation_p.I25F|RRBP1_ENST00000360807.4_Missense_Mutation_p.I25F			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	25					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						ACCAGGAAGATGCCAATGGCA	0.483																																																	0													90	82	85					20																	17641080		2203	4300	6503	SO:0001583	missense	0			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.73A>T	20.37:g.17641080T>A	ENSP00000367044:p.Ile25Phe		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.I25F	ENST00000377813.1	37	c.73		20	.	.	.	.	.	.	.	.	.	.	T	24.3	4.521240	0.85600	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000398782	T;T;T;T;D	0.99129	0.54;0.75;0.54;0.75;-5.46	4.54	4.54	0.55810	.	0.000000	0.32753	N	0.005693	D	0.98406	0.9470	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99819	1.1046	10	0.87932	D	0	-15.4183	13.3362	0.60518	0.0:0.0:0.0:1.0	.	25	Q9P2E9-3	.	F	25	ENSP00000354045:I25F;ENSP00000367044:I25F;ENSP00000367038:I25F;ENSP00000246043:I25F;ENSP00000381762:I25F	ENSP00000246043:I25F	I	-	1	0	RRBP1	17589080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.956000	0.87863	1.821000	0.53095	0.533000	0.62120	ATC	RRBP1	-	NULL	ENSG00000125844		0.483	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	-	0	68	0	T	NM_001042576		17641080	-1	tier1	-	no_errors	ENST00000246043	ensembl	human	known	74_37	missense	48.33	31	29	SNP	1.000	A	A	17641080	T	A	17641080	3	1	163	1	0	0	0	0	1	0	0	0	13723	1464	51	5	2956	5	RRBP1	20	17641080	Missense_Mutation	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	1233307	17641080	45384440	318	41523											
DEFB115	245929	genome.wustl.edu	37	chr20	29847380	29847380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctgtgtccctaaagaaaAggataaactatcacacattc	15	11	6	9	0	1	1	1	0	0	1	3	2	2	2	1	1	2	1	1	1	7	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr20:29847380A>G	ENST00000400552.1	+	2	212	c.212A>G	c.(211-213)aAg>aGg	p.K71R		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	71					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			CCTAAAGAAAAGGATAAACTA	0.348																																																	0													87	82	83					20																	29847380		1864	4107	5971	SO:0001583	missense	0			DQ012019	CCDS42859.1	20q11.1	2008-07-17			ENSG00000215547	ENSG00000215547		"Defensins, beta"	18096	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037730		Approved	DEFB-15	uc002wvp.1	Q30KQ5	OTTHUMG00000159284	ENST00000400552.1:c.212A>G	20.37:g.29847380A>G	ENSP00000383398:p.Lys71Arg			Missense_Mutation	SNP	NULL	p.K71R	ENST00000400552.1	37	c.212	CCDS42859.1	20	.	.	.	.	.	.	.	.	.	.	A	9.358	1.067148	0.20067	.	.	ENSG00000215547	ENST00000400552	T	0.32272	1.46	3.17	2.07	0.26955	.	.	.	.	.	T	0.21103	0.0508	.	.	.	0.09310	N	1	B	0.21225	0.053	B	0.20767	0.031	T	0.21280	-1.0250	8	0.51188	T	0.08	.	5.0088	0.14302	0.86:0.0:0.14:0.0	.	71	Q30KQ5	DB115_HUMAN	R	71	ENSP00000383398:K71R	ENSP00000383398:K71R	K	+	2	0	DEFB115	29311041	0.006000	0.16342	0.013000	0.15412	0.004000	0.04260	0.232000	0.17891	0.627000	0.30340	0.329000	0.21502	AAG	DEFB115	-	NULL	ENSG00000215547		0.348	DEFB115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB115	HGNC	protein_coding	OTTHUMT00000354402.1		0	56	0	A	NM_001037730		29847380	1			no_errors	ENST00000400552	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.015	G	G	29847380	A	G	29847380	3	3	163	1	0	0	0	0	1	0	0	0	4417	72	3	4	218	4	DEFB115	20	29847380	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	12206300	29847380	33178140	319	41524											
KIAA1755	85449	genome.wustl.edu	37	chr20	36869864	36869864	+	Silent	SNP	T	T	A	0	1	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	gcaggaagcacctggttgtcTggggagctggcctggtgcaa	7	8	17	9	0	1	0	0	0	1	0	1	2	1	2	2	6	3	5	2	6	2	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr20:36869864T>A	ENST00000279024.4	-	3	940	c.669A>T	c.(667-669)ccA>ccT	p.P223P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	223										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)				CCTGGTTGTCTGGGGAGCTGG	0.587																																																	0													93	89	90					20																	36869864		2203	4300	6503	SO:0001819	synonymous_variant	0			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.669A>T	20.37:g.36869864T>A			Q9C0A8	Silent	SNP	superfamily_CRAL-TRIO_dom	p.P223	ENST00000279024.4	37	c.669	CCDS33467.1	20																																																																																			KIAA1755	-	NULL	ENSG00000149633		0.587	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	-	0	60	0	T	NM_001029864		36869864	-1	tier1	-	no_errors	ENST00000279024	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.000	A	A	36869864	T	A	36869864	2	1	163	1	0	0	0	0	0	0	0	1	8284	1567	55	5		5	KIAA1755	20	36869864	Silent	SNP	T	TCGA-VR-A8EQ-01A-11D-A36J-09	7022484	36869864	26155656	320	41525											
RBPJL	11317	genome.wustl.edu	37	chr20	43945540	43945540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgacgccgacgcgctcCtggagagcatccatcaggag	9	4	12	16	5	1	1	1	0	0	1	3	5	3	2	5	2	1	2	5	2	0	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr20:43945540C>A	ENST00000343694.3	+	12	1567	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.L498M|RBPJL_ENST00000372741.3_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	499	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CGACGCGCTCCTGGAGAGCAT	0.677																																																	0													42	51	48					20																	43945540		2203	4298	6501	SO:0001583	missense	0			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1495C>A	20.37:g.43945540C>A	ENSP00000341243:p.Leu499Met		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.L499M	ENST00000343694.3	37	c.1495	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842512	0.51057	.	.	ENSG00000124232	ENST00000372743;ENST00000343694	T;T	0.44083	0.94;0.93	5.06	3.9	0.45041	.	0.000000	0.52532	D	0.000077	T	0.51092	0.1654	L	0.54323	1.7	0.23459	N	0.997637	D	0.63880	0.993	P	0.59288	0.855	T	0.36286	-0.9754	10	0.33940	T	0.23	-21.3632	11.7213	0.51683	0.0:0.9011:0.0:0.0989	.	499	Q9UBG7	RBPJL_HUMAN	M	498;499	ENSP00000361828:L498M;ENSP00000341243:L499M	ENSP00000341243:L499M	L	+	1	2	RBPJL	43378954	0.723000	0.28027	0.971000	0.41717	0.732000	0.41865	1.266000	0.33039	2.358000	0.79984	0.449000	0.29647	CTG	RBPJL	-	NULL	ENSG00000124232		0.677	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1		0	10	0	C	NM_014276		43945540	1			no_errors	ENST00000343694	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.377	A	A	43945540	C	A	43945540	3	1	163	1	0	0	0	0	1	0	0	0	13207	680	24	3	1541	3	RBPJL	20	43945540	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	7075676	43945540	19079980	321	41526											
UBASH3A	53347	genome.wustl.edu	37	chr21	43852260	43852260	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tggttcgccacggggagagaGtggatcagatcttcgggaag	9	8	17	7	3	2	2	1	0	1	2	4	6	2	5	1	5	0	1	1	5	1	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr21:43852260G>T	ENST00000319294.6	+	9	1250	c.1219G>T	c.(1219-1221)Gtg>Ttg	p.V407L	UBASH3A_ENST00000398367.1_Missense_Mutation_p.V369L|UBASH3A_ENST00000291535.6_Missense_Mutation_p.V369L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	407	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CGGGGAGAGAGTGGATCAGAT	0.562																																																	0													174	114	134					21																	43852260		2203	4300	6503	SO:0001583	missense	0			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1219G>T	21.37:g.43852260G>T	ENSP00000317327:p.Val407Leu		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.V407L	ENST00000319294.6	37	c.1219	CCDS13687.1	21	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677056	0.47886	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.72051	-0.62;-0.62;-0.62	4.96	4.08	0.47627	Histidine phosphatase superfamily, clade-1 (1);	0.101272	0.43416	N	0.000574	T	0.57359	0.2048	L	0.28274	0.84	0.80722	D	1	B;B;B	0.21606	0.047;0.026;0.058	B;B;B	0.21708	0.013;0.013;0.036	T	0.55704	-0.8099	10	0.56958	D	0.05	-30.644	10.8762	0.46913	0.0:0.0:0.8116:0.1884	.	369;369;407	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	L	369;407;369	ENSP00000291535:V369L;ENSP00000317327:V407L;ENSP00000381408:V369L	ENSP00000291535:V369L	V	+	1	0	UBASH3A	42725329	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	1.943000	0.40253	1.099000	0.41499	-0.127000	0.14921	GTG	UBASH3A	-	pfam_His_Pase_superF_clade-1	ENSG00000160185		0.562	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	UBASH3A	HGNC	protein_coding	OTTHUMT00000195382.1	-	0	46	0	G	NM_001001895		43852260	1	tier1	-	no_errors	ENST00000319294	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	43852260	G	T	43852260	3	4	163	1	0	0	0	0	1	0	0	0	16888	1029	36	3	1253	3	UBASH3A	21	43852260	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		43852260	4277635	322	41527											
ZNF280B	140883	genome.wustl.edu	37	chr22	22843122	22843122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtatctgaagggaacgaaGctgaagaatttccttctata	14	11	10	6	1	2	3	0	2	2	1	3	5	3	4	1	2	2	2	1	2	8	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr22:22843122G>T	ENST00000406426.1	-	4	1344	c.602C>A	c.(601-603)gCt>gAt	p.A201D	ZNF280B_ENST00000360412.2_Missense_Mutation_p.A201D			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	201					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)		AGGGAACGAAGCTGAAGAATT	0.393																																																	0													111	108	109					22																	22843122		2203	4300	6503	SO:0001583	missense	0			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.602C>A	22.37:g.22843122G>T	ENSP00000385998:p.Ala201Asp			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A201D	ENST00000406426.1	37	c.602	CCDS13799.1	22	.	.	.	.	.	.	.	.	.	.	G	8.773	0.926284	0.18056	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.25579	1.79;1.79	4.43	-0.532	0.11890	.	.	.	.	.	T	0.39545	0.1082	M	0.66939	2.045	0.09310	N	1	D	0.63880	0.993	D	0.67103	0.949	T	0.18681	-1.0329	9	0.54805	T	0.06	-4.4463	3.8665	0.09018	0.3439:0.1793:0.4767:0.0	.	201	Q86YH2	Z280B_HUMAN	D	201	ENSP00000385998:A201D;ENSP00000353586:A201D	ENSP00000353586:A201D	A	-	2	0	ZNF280B	21173122	0.204000	0.23447	0.019000	0.16419	0.050000	0.14768	1.615000	0.36922	-0.084000	0.12595	0.655000	0.94253	GCT	ZNF280B	-	NULL	ENSG00000198477		0.393	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280B	HGNC	protein_coding	OTTHUMT00000321170.2		0	65	0	G	NM_080764		22843122	-1			no_errors	ENST00000360412	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.010	T	T	22843122	G	T	22843122	3	4	163	1	0	0	0	0	1	0	0	0	17863	971	34	3	1033	3	ZNF280B	22	22843122	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		22843122	28461444	323	41528											
NEFH	4744	genome.wustl.edu	37	chr22	29879382	29879382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgaggctggaccgactgtCggaggcagccaaggtgaaca	11	5	16	9	2	0	2	0	2	0	0	1	5	0	4	2	5	2	2	2	5	2	0			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr22:29879382C>T	ENST00000310624.6	+	2	935	c.902C>T	c.(901-903)tCg>tTg	p.S301L		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	301	Coil 2B.|Rod.				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						GACCGACTGTCGGAGGCAGCC	0.562																																																	0													134	141	139					22																	29879382		2203	4300	6503	SO:0001583	missense	0				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.902C>T	22.37:g.29879382C>T	ENSP00000311997:p.Ser301Leu		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_IF,pfam_DUF1388	p.S301L	ENST00000310624.6	37	c.902	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735505	0.69189	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.89270	-2.49	5.62	5.62	0.85841	Filament (1);	0.000000	0.41712	D	0.000824	D	0.94725	0.8298	M	0.86953	2.85	0.43559	D	0.995872	D	0.89917	1.0	D	0.70227	0.968	D	0.95200	0.8316	10	0.87932	D	0	.	14.5042	0.67741	0.1467:0.8533:0.0:0.0	.	301	P12036	NFH_HUMAN	L	301	ENSP00000311997:S301L	ENSP00000311997:S301L	S	+	2	0	NEFH	28209382	1.000000	0.71417	0.970000	0.41538	0.700000	0.40528	5.550000	0.67268	2.651000	0.90000	0.650000	0.86243	TCG	NEFH	-	pfam_IF	ENSG00000100285		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	-	0	26	0	C	NM_021076		29879382	1	tier1	-	no_errors	ENST00000310624	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.998	T	T	29879382	C	T	29879382	3	4	163	1	0	0	0	0	1	0	0	0	10353	893	31	1	908	1	NEFH	22	29879382	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	7036260	29879382	21425184	324	41529											
DEPDC5	9681	genome.wustl.edu	37	chr22	32289687	32289687	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctgaatgcagcctttGagatcaagctgcactggatg	9	13	10	9	0	2	2	1	2	1	1	3	4	2	3	1	1	4	3	1	1	2	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr22:32289687G>T	ENST00000382112.3	+	38	4196	c.4126G>T	c.(4126-4128)Gag>Tag	p.E1376*	DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.E1385*|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.E1363*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.E1354*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.E1385*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.E1285*|DEPDC5_ENST00000539165.1_Nonsense_Mutation_p.E202*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.E1354*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1385					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.E1285Q(1)|p.E1354Q(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGCAGCCTTTGAGATCAAGCT	0.537																																																	2	Substitution - Missense(2)	lung(2)											82	87	85					22																	32289687		2055	4203	6258	SO:0001587	stop_gained	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4126G>T	22.37:g.32289687G>T	ENSP00000371546:p.Glu1376*		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.E1363*	ENST00000382112.3	37	c.4087	CCDS46692.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.076734|11.076734	0.99512|0.99512	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165|ENST00000433147	.|.	.|.	.|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.66056|.	D|.	0.02|.	.|.	17.2842|17.2842	0.87137|0.87137	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1285;1363;1354;1285;1385;1376;1385;1354;202|760	.|.	ENSP00000266091:E1363X|.	E|X	+|+	1|2	0|2	DEPDC5|DEPDC5	30619687|30619687	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	9.513000|9.513000	0.98010|0.98010	2.310000|2.310000	0.77875|0.77875	0.563000|0.563000	0.77884|0.77884	GAG|TGA	DEPDC5	-	NULL	ENSG00000100150		0.537	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1		0	34	0	G	NM_014662		32289687	1			no_errors	ENST00000266091	ensembl	human	known	74_37	nonsense	7.41	25	2	SNP	1.000	T	T	32289687	G	T	32289687	4	4	163	1	0	0	0	0	0	1	0	0	4456	1291	45	3	4294	3	DEPDC5	22	32289687	Nonsense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	2410305	32289687	19014879	325	41530											
EIF3D	8664	genome.wustl.edu	37	chr22	36919267	36919267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacattacctgtgatttctGatcccatttctgcctaaccc	9	15	4	13	0	2	2	0	2	2	0	3	2	3	2	4	0	4	0	4	0	3	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr22:36919267G>T	ENST00000216190.8	-	6	824	c.454C>A	c.(454-456)Cag>Aag	p.Q152K	EIF3D_ENST00000405442.1_Missense_Mutation_p.Q152K|EIF3D_ENST00000541106.1_Missense_Mutation_p.Q103K	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TGTGATTTCTGATCCCATTTC	0.368																																																	0													170	172	171					22																	36919267		2203	4300	6503	SO:0001583	missense	0			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.454C>A	22.37:g.36919267G>T	ENSP00000216190:p.Gln152Lys			Missense_Mutation	SNP	pfam_eIF3d,pirsf_eIF3d	p.Q152K	ENST00000216190.8	37	c.454	CCDS13930.1	22	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475190	0.63737	.	.	ENSG00000100353	ENST00000216190;ENST00000541106;ENST00000405442;ENST00000455547;ENST00000457241;ENST00000432675	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	L	0.29908	0.895	0.80722	D	1	B;B	0.25206	0.12;0.017	B;B	0.20384	0.029;0.008	T	0.44050	-0.9353	9	0.19147	T	0.46	-18.0609	19.8936	0.96942	0.0:0.0:1.0:0.0	.	103;152	B4DVY1;O15371	.;EIF3D_HUMAN	K	152;103;152;152;152;152	.	ENSP00000216190:Q152K	Q	-	1	0	EIF3D	35249213	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.764000	0.91719	2.793000	0.96121	0.655000	0.94253	CAG	EIF3D	-	pfam_eIF3d,pirsf_eIF3d	ENSG00000100353		0.368	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3D	HGNC	protein_coding	OTTHUMT00000319026.1	-	0	102	0	G			36919267	-1	tier1	-	no_errors	ENST00000216190	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	36919267	G	T	36919267	3	4	163	1	0	0	0	0	1	0	0	0	5030	1299	45	3	1232	3	EIF3D	22	36919267	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	4629580	36919267	14385299	326	41531											
TMEM184B	25829	genome.wustl.edu	37	chr22	38642064	38642064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgcgcacgatgtagcGctgctcgttggggcagctgt	6	9	17	9	4	0	0	0	0	0	0	1	3	0	1	0	3	4	7	0	3	1	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chr22:38642064G>A	ENST00000361906.3	-	3	443	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	TMEM184B_ENST00000361684.4_Missense_Mutation_p.R79C	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	79						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					ACGATGTAGCGCTGCTCGTTG	0.612																																																	0													115	88	97					22																	38642064		2203	4300	6503	SO:0001583	missense	0			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.235C>T	22.37:g.38642064G>A	ENSP00000355210:p.Arg79Cys		A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	pfam_Ost-alpha	p.R79C	ENST00000361906.3	37	c.235	CCDS13969.2	22	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075842	0.76415	.	.	ENSG00000198792	ENST00000361906;ENST00000361684;ENST00000403210	T;T;T	0.51817	0.69;0.69;0.69	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84706	0.0731	10	0.87932	D	0	.	17.2945	0.87167	0.0:0.0:1.0:0.0	.	79	Q9Y519	T184B_HUMAN	C	79;79;13	ENSP00000355210:R79C;ENSP00000354441:R79C;ENSP00000385608:R13C	ENSP00000354441:R79C	R	-	1	0	TMEM184B	36972010	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.282000	0.72639	2.060000	0.61445	0.549000	0.68633	CGC	TMEM184B	-	pfam_Ost-alpha	ENSG00000198792		0.612	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM184B	HGNC	protein_coding	OTTHUMT00000075445.4	-	0	46	0	G	NM_012264		38642064	-1	tier1	-	no_errors	ENST00000361684	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	A	A	38642064	G	A	38642064	3	1	163	1	0	0	0	0	1	0	0	0	16152	1087	38	1	1016	1	TMEM184B	22	38642064	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	1722797	38642064	12662502	327	41532											
MXRA5	25878	genome.wustl.edu	37	chrX	3235678	3235678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctctgtctgagaaggacGcctccttgatggaaagggtc	8	9	13	11	2	2	2	0	2	2	1	4	5	3	4	3	3	0	0	3	3	2	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:3235678G>A	ENST00000217939.6	-	6	6198	c.6044C>T	c.(6043-6045)gCg>gTg	p.A2015V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2015	Ig-like C2-type 4.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGAGAAGGACGCCTCCTTGAT	0.632																																																	0													38	33	35					X																	3235678		2203	4300	6503	SO:0001583	missense	0			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.6044C>T	X.37:g.3235678G>A	ENSP00000217939:p.Ala2015Val		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A2015V	ENST00000217939.6	37	c.6044	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	9.806	1.181820	0.21787	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64618	-0.11	3.55	3.55	0.40652	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35235	U	0.003354	T	0.45094	0.1325	N	0.04148	-0.265	0.09310	N	0.999999	P	0.52842	0.956	P	0.52309	0.695	T	0.46857	-0.9161	10	0.02654	T	1	.	14.9544	0.71101	0.0:0.0:1.0:0.0	.	2015	Q9NR99	MXRA5_HUMAN	V	2015	ENSP00000217939:A2015V	ENSP00000217939:A2015V	A	-	2	0	MXRA5	3245678	0.722000	0.28017	0.059000	0.19551	0.954000	0.61252	2.360000	0.44151	1.399000	0.46721	0.544000	0.68410	GCG	MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000101825		0.632	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2		0	41	0	G	NM_015419		3235678	-1			no_errors	ENST00000217939	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.221	A	A	3235678	G	A	3235678	3	1	163	1	0	0	0	0	1	0	0	0	10041	1087	38	1	2450	1	MXRA5	23	3235678	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09		3235678	152034882	328	41533											
MXRA5	25878	genome.wustl.edu	37	chrX	3242385	3242385	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtagcaccttcttggcCgtactctgacgtcggttcag	8	11	11	11	3	3	1	1	1	2	0	4	2	3	1	2	2	2	4	2	2	3	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:3242385C>T	ENST00000217939.6	-	5	1495	c.1341G>A	c.(1339-1341)acG>acA	p.T447T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	447						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)				CCTTCTTGGCCGTACTCTGAC	0.488																																																	0													127	124	125					X																	3242385		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1341G>A	X.37:g.3242385C>T			Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T447	ENST00000217939.6	37	c.1341	CCDS14124.1	X																																																																																			MXRA5	-	NULL	ENSG00000101825		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0	24	0	C	NM_015419		3242385	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	silent	50.00	7	7	SNP	0.022	T	T	3242385	C	T	3242385	2	4	163	1	0	0	0	0	0	0	0	1	10041	639	23	1		1	MXRA5	23	3242385	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	6707	3242385	152028175	329	41534											
SYAP1	94056	genome.wustl.edu	37	chrX	16778364	16778364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcttttagaggattctgCagattgggaaaaagaactgc	12	13	11	5	0	2	3	0	0	2	3	2	5	2	5	0	2	3	2	0	2	4	5			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:16778364C>T	ENST00000380155.3	+	9	1034	c.941C>T	c.(940-942)gCa>gTa	p.A314V		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	314						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					GAGGATTCTGCAGATTGGGAA	0.368																																																	0													79	80	80					X																	16778364		2203	4300	6503	SO:0001583	missense	0			AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"SAP47 homolog (Drosophila)"					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.941C>T	X.37:g.16778364C>T	ENSP00000369500:p.Ala314Val		Q68CP1|Q96C60|Q96JQ6|Q96T20	Missense_Mutation	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.A314V	ENST00000380155.3	37	c.941	CCDS14177.1	X	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093636	0.56075	.	.	ENSG00000169895	ENST00000380155	.	.	.	5.69	4.83	0.62350	.	0.138384	0.64402	N	0.000003	T	0.52322	0.1727	L	0.41824	1.3	0.42321	D	0.99225	B;B	0.13145	0.007;0.002	B;B	0.10450	0.005;0.003	T	0.47222	-0.9134	9	0.32370	T	0.25	-12.099	12.4651	0.55753	0.0:0.9206:0.0:0.0794	.	280;314	B4E1C9;Q96A49	.;SYAP1_HUMAN	V	314	.	ENSP00000369500:A314V	A	+	2	0	SYAP1	16688285	0.999000	0.42202	0.988000	0.46212	0.991000	0.79684	4.367000	0.59498	1.302000	0.44855	0.596000	0.82720	GCA	SYAP1	-	NULL	ENSG00000169895		0.368	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYAP1	HGNC	protein_coding	OTTHUMT00000055904.1	-	0	76	0	C	NM_032796		16778364	1	tier1	-	no_errors	ENST00000380155	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.998	T	T	16778364	C	T	16778364	3	4	163	1	0	0	0	0	1	0	0	0	15473	710	25	3	975	3	SYAP1	23	16778364	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	13535979	16778364	138492196	330	41535											
MAGEH1	28986	genome.wustl.edu	37	chrX	55479467	55479467	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggttattccgccccttaAgtagatctgaggcagaccct	9	10	11	11	1	1	3	0	1	1	2	2	3	2	3	4	3	0	3	4	3	3	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:55479467A>G	ENST00000342972.1	+	1	930	c.660A>G	c.(658-660)taA>taG	p.*220*	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	0					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CCGCCCCTTAAGTAGATCTGA	0.502																																																	0													48	47	47					X																	55479467		2201	4298	6499	SO:0001819	synonymous_variant	0			AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.660A>G	X.37:g.55479467A>G			B2R8V9|Q5JRJ3|Q9Y5M2	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.*220	ENST00000342972.1	37	c.660	CCDS14369.1	X																																																																																			MAGEH1	-	NULL	ENSG00000187601		0.502	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEH1	HGNC	protein_coding	OTTHUMT00000056868.1	-	0	34	0	A	NM_014061		55479467	1	tier1	-	no_errors	ENST00000342972	ensembl	human	known	74_37	silent	31.58	13	6	SNP	0.000	G	G	55479467	A	G	55479467	2	3	163	1	0	0	0	0	0	0	0	1	9226	79	3	4		4	MAGEH1	23	55479467	Silent	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	38701103	55479467	99791093	331	41536											
KLF8	11279	genome.wustl.edu	37	chrX	56291946	56291946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaacattcctactgttCtgaccccaggctctgtcctg	8	11	7	15	0	2	1	0	1	2	0	4	1	4	1	4	1	3	3	4	1	2	3			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:56291946C>A	ENST00000468660.1	+	3	703	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	KLF8_ENST00000374928.3_Missense_Mutation_p.L139M	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						TCCTACTGTTCTGACCCCAGG	0.517																																																	0													113	89	98					X																	56291946		2203	4300	6503	SO:0001583	missense	0			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.415C>A	X.37:g.56291946C>A	ENSP00000417303:p.Leu139Met		B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L139M	ENST00000468660.1	37	c.415	CCDS14373.1	X	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870987	0.33069	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T;T	0.34859	1.34;1.34	4.5	2.61	0.31194	.	0.000000	0.56097	D	0.000040	T	0.55955	0.1953	M	0.77820	2.39	0.49915	D	0.999839	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.54662	-0.8260	10	0.72032	D	0.01	.	7.9721	0.30134	0.0:0.7678:0.0:0.2322	.	139;139;139	E7EQQ8;B4DJN3;O95600	.;.;KLF8_HUMAN	M	139	ENSP00000364063:L139M;ENSP00000417303:L139M	ENSP00000431911:L139M	L	+	1	2	KLF8	56308671	0.954000	0.32549	0.263000	0.24496	0.180000	0.23129	1.429000	0.34903	0.381000	0.24851	0.594000	0.82650	CTG	KLF8	-	NULL	ENSG00000102349		0.517	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF8	HGNC	protein_coding	OTTHUMT00000056887.2	-	0	28	0	C	NM_007250		56291946	1	tier1	-	no_errors	ENST00000468660	ensembl	human	known	74_37	missense	79.17	5	19	SNP	1.000	A	A	56291946	C	A	56291946	3	1	163	1	0	0	0	0	1	0	0	0	8379	912	32	3	425	3	KLF8	23	56291946	Missense_Mutation	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	812479	56291946	98978614	332	41537											
TCEAL2	140597	genome.wustl.edu	37	chrX	101382235	101382235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaaagaaaaaccaacaagGggctggctcagtacctcaag	17	4	9	11	0	2	1	2	0	0	1	2	1	2	1	3	3	3	3	3	3	8	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:101382235G>A	ENST00000372780.1	+	3	652	c.433G>A	c.(433-435)Ggg>Agg	p.G145R	TCEAL2_ENST00000329035.2_Missense_Mutation_p.G145R	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	145					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						AACCAACAAGGGGCTGGCTCA	0.468													G|||	1	0.000264901	0	0.0014	3775	,	,		15204	0		0	False		,,,				2504	0																0													115	112	113					X																	101382235		2203	4300	6503	SO:0001583	missense	0			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.433G>A	X.37:g.101382235G>A	ENSP00000361866:p.Gly145Arg		B2R5C7	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.G145R	ENST00000372780.1	37	c.433	CCDS14496.1	X	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675599	0.47781	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.07800	3.16;3.16	3.43	3.43	0.39272	.	0.000000	0.48286	D	0.000187	T	0.20700	0.0498	L	0.54908	1.71	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00773	-1.1572	10	0.87932	D	0	.	9.4515	0.38729	0.0:0.0:1.0:0.0	.	145	Q9H3H9	TCAL2_HUMAN	R	145	ENSP00000361866:G145R;ENSP00000332359:G145R	ENSP00000332359:G145R	G	+	1	0	TCEAL2	101268891	0.635000	0.27199	0.092000	0.20876	0.771000	0.43674	1.084000	0.30828	1.974000	0.57490	0.594000	0.82650	GGG	TCEAL2	-	pfam_TF_A-like/BEX-like	ENSG00000184905		0.468	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL2	HGNC	protein_coding	OTTHUMT00000057605.1	-	0	15	0	G	NM_080390		101382235	1	tier1	-	no_errors	ENST00000329035	ensembl	human	known	74_37	missense	53.12	15	17	SNP	0.078	A	A	101382235	G	A	101382235	3	1	163	1	0	0	0	0	1	0	0	0	15718	1232	43	3	435	3	TCEAL2	23	101382235	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	45090289	101382235	53888325	333	41538											
DCX	1641	genome.wustl.edu	37	chrX	110653364	110653364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtcagacagagatcgcGtcaggtcagccagcaaggcg	10	7	14	10	3	3	2	3	0	0	2	4	3	3	2	1	2	2	2	1	2	1	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:110653364G>A	ENST00000338081.3	-	2	677	c.506C>T	c.(505-507)aCg>aTg	p.T169M	DCX_ENST00000356220.3_Missense_Mutation_p.T88M|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.T88M|DCX_ENST00000356915.2_Missense_Mutation_p.T88M|DCX_ENST00000488120.1_Missense_Mutation_p.T88M	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	169	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CAGAGATCGCGTCAGGTCAGC	0.522																																																	0													231	169	190					X																	110653364		2203	4300	6503	SO:0001583	missense	0			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.506C>T	X.37:g.110653364G>A	ENSP00000337697:p.Thr169Met		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	p.T169M	ENST00000338081.3	37	c.506	CCDS14556.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.422263|4.422263	0.83559|0.83559	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	.|D;D;D;D;D;D	.|0.96427	.|-4.01;-4.01;-4.01;-4.01;-4.01;-4.01	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Doublecortin domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98419|0.98419	0.9474|0.9474	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.983;0.998	D|D	0.99218|0.99218	1.0878|1.0878	5|10	.|0.66056	.|D	.|0.02	.|.	18.4403|18.4403	0.90664|0.90664	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|157;169	.|B4DM53;O43602	.|.;DCX_HUMAN	C|M	161|88;88;169;88;88;88	.|ENSP00000349385:T88M;ENSP00000361061:T88M;ENSP00000337697:T169M;ENSP00000348553:T88M;ENSP00000419861:T88M;ENSP00000418811:T88M	.|ENSP00000337697:T169M	R|T	-|-	1|2	0|0	DCX|DCX	110540020|110540020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	9.657000|9.657000	0.98554|0.98554	2.551000|2.551000	0.86045|0.86045	0.600000|0.600000	0.82982|0.82982	CGC|ACG	DCX	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	ENSG00000077279		0.522	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	HGNC	protein_coding	OTTHUMT00000357058.1	-	0	35	0	G	NM_178153		110653364	-1	tier1	-	no_errors	ENST00000338081	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	A	A	110653364	G	A	110653364	3	1	163	1	0	0	0	0	1	0	0	0	4327	1145	40	1	858	1	DCX	23	110653364	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	9271129	110653364	44617196	334	41539											
ZCCHC16	340595	genome.wustl.edu	37	chrX	111698082	111698082	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacactgctaaaaggggccaAgtcatgcctgccctggccac	11	6	10	14	0	1	0	1	0	0	0	1	0	1	0	4	3	4	1	4	3	4	1			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:111698082A>C	ENST00000340433.2	+	1	356	c.126A>C	c.(124-126)caA>caC	p.Q42H		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	42							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAAGGGGCCAAGTCATGCCTG	0.522																																																	0													120	88	99					X																	111698082		2203	4300	6503	SO:0001583	missense	0			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"Zinc fingers, CCHC domain containing"	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.126A>C	X.37:g.111698082A>C	ENSP00000340590:p.Gln42His		B2RPG1	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.Q42H	ENST00000340433.2	37	c.126	CCDS35369.1	X	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471716	0.26423	.	.	ENSG00000187823	ENST00000340433	T	0.47869	0.83	4.19	1.74	0.24563	.	0.289155	0.23215	N	0.050628	T	0.46870	0.1415	L	0.34521	1.04	0.09310	N	1	D	0.69078	0.997	D	0.64410	0.925	T	0.24941	-1.0146	10	0.44086	T	0.13	-3.0E-4	3.4759	0.07585	0.6448:0.2318:0.1235:0.0	.	42	Q6ZR62	ZCH16_HUMAN	H	42	ENSP00000340590:Q42H	ENSP00000340590:Q42H	Q	+	3	2	ZCCHC16	111584738	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.078000	0.14761	0.241000	0.21283	0.486000	0.48141	CAA	ZCCHC16	-	NULL	ENSG00000187823		0.522	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC16	HGNC	protein_coding	OTTHUMT00000356964.1	-	0	39	0	A	NM_001004308		111698082	1	tier1	-	no_errors	ENST00000340433	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.001	C	C	111698082	A	C	111698082	3	2	163	1	0	0	0	0	1	0	0	0	17632	69	3	4	128	4	ZCCHC16	23	111698082	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	1044718	111698082	43572478	335	41540											
SLC6A14	11254	genome.wustl.edu	37	chrX	115585609	115585609	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctcgtctgtgtgactcagGtatactacagcatttttttt	7	18	8	8	1	3	1	1	1	2	0	4	1	3	1	0	1	3	2	0	1	3	7			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:115585609G>A	ENST00000371900.4	+	10	1492		c.e10+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)	TGTGACTCAGGTATACTACAG	0.368																																																	0													171	127	142					X																	115585609		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1404+1G>A	X.37:g.115585609G>A			Q5H942	Splice_Site	SNP	-	e10+1	ENST00000371900.4	37	c.1404+1	CCDS14570.1	X	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206177	0.58343	.	.	ENSG00000087916	ENST00000371900	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4684	0.75422	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A14	115499637	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	8.685000	0.91246	2.246000	0.74042	0.538000	0.68166	.	SLC6A14	-	-	ENSG00000087916		0.368	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1	-	0	43	0	G		Intron	115585609	1	tier1	-	no_errors	ENST00000371900	ensembl	human	known	74_37	splice_site	9.76	37	4	SNP	1.000	A	A	115585609	G	A	115585609	5	1	163	1	0	0	0	0	0	0	1	0	14722	1275	44	3	1443	3	SLC6A14	23	115585609	Splice_Site	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	3887527	115585609	39684951	336	41541											
KLHL13	90293	genome.wustl.edu	37	chrX	117033206	117033206	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataatcacttgttcctctgaAgtgattgccaccaatgacat	12	13	6	10	0	2	3	1	3	1	0	3	3	3	3	3	0	1	1	3	0	3	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:117033206A>C	ENST00000262820.3	-	7	2542	c.1633T>G	c.(1633-1635)Ttc>Gtc	p.F545V	KLHL13_ENST00000540167.1_Missense_Mutation_p.F529V|KLHL13_ENST00000539496.1_Missense_Mutation_p.F548V|KLHL13_ENST00000469946.1_Missense_Mutation_p.F494V|KLHL13_ENST00000371882.1_Missense_Mutation_p.F494V|KLHL13_ENST00000371876.1_Missense_Mutation_p.F494V|KLHL13_ENST00000545703.1_Missense_Mutation_p.F503V|KLHL13_ENST00000371878.1_Missense_Mutation_p.F494V|KLHL13_ENST00000541812.1_Missense_Mutation_p.F529V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	545					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						GTTCCTCTGAAGTGATTGCCA	0.468																																																	0													247	232	237					X																	117033206		2203	4300	6503	SO:0001583	missense	0			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.1633T>G	X.37:g.117033206A>C	ENSP00000262820:p.Phe545Val		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F548V	ENST00000262820.3	37	c.1642	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	A	14.11	2.436970	0.43224	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.80793	0.4691	L	0.31526	0.94	0.80722	D	1	B;D;B;B	0.89917	0.056;1.0;0.113;0.137	B;D;B;B	0.91635	0.113;0.999;0.113;0.18	T	0.78563	-0.2156	10	0.27082	T	0.32	.	14.2106	0.65762	1.0:0.0:0.0:0.0	.	529;548;539;545	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	V	494;494;494;494;529;529;548;545;503;494	ENSP00000360949:F494V;ENSP00000360943:F494V;ENSP00000360945:F494V;ENSP00000412640:F494V;ENSP00000444450:F529V;ENSP00000441029:F529V;ENSP00000443191:F548V;ENSP00000262820:F545V;ENSP00000440707:F503V;ENSP00000419803:F494V	ENSP00000262820:F545V	F	-	1	0	KLHL13	116917234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	1.931000	0.55961	0.486000	0.48141	TTC	KLHL13	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000003096		0.468	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		-	0	54	0	A	NM_033495		117033206	-1	tier1	-	no_errors	ENST00000539496	ensembl	human	known	74_37	missense	56.10	18	23	SNP	1.000	C	C	117033206	A	C	117033206	3	2	163	1	0	0	0	0	1	0	0	0	8396	72	3	4	338	4	KLHL13	23	117033206	Missense_Mutation	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	1447597	117033206	38237354	337	41542											
IL13RA1	3597	genome.wustl.edu	37	chrX	117900499	117900499	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttattttcaaggtccaaGaggctaaatgtgagaatcca	13	14	8	6	0	1	2	1	1	0	2	3	3	3	2	2	2	0	1	2	2	6	6			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:117900499G>T	ENST00000371666.3	+	7	902	c.835G>T	c.(835-837)Gag>Tag	p.E279*	IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	279	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)	p.E279Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						CAAGGTCCAAGAGGCTAAATG	0.338																																																	1	Substitution - Missense(1)	lung(1)											68	66	67					X																	117900499		2203	4300	6503	SO:0001587	stop_gained	0			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.835G>T	X.37:g.117900499G>T	ENSP00000360730:p.Glu279*		O95646|Q5JSL4|Q99656|Q9UDY5	Nonsense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.E279*	ENST00000371666.3	37	c.835	CCDS14573.1	X	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701722	0.30142	.	.	ENSG00000131724	ENST00000371666	.	.	.	4.54	3.59	0.41128	.	1.784850	0.02826	N	0.126087	.	.	.	.	.	.	0.24516	N	0.994188	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-11.4573	5.6554	0.17640	0.156:0.0:0.844:0.0	.	.	.	.	X	279	.	ENSP00000360730:E279X	E	+	1	0	IL13RA1	117784527	1.000000	0.71417	0.295000	0.24960	0.028000	0.11728	4.150000	0.58098	2.082000	0.62665	0.459000	0.35465	GAG	IL13RA1	-	superfamily_Fibronectin_type3	ENSG00000131724		0.338	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA1	HGNC	protein_coding	OTTHUMT00000058009.1	-	0	78	0	G	NM_001560		117900499	1	tier1	-	no_errors	ENST00000371666	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	0.213	T	T	117900499	G	T	117900499	4	4	163	1	0	0	0	0	0	1	0	0	7656	943	33	3	861	3	IL13RA1	23	117900499	Nonsense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	867293	117900499	37370061	338	41543											
FRMD7	90167	genome.wustl.edu	37	chrX	131233530	131233530	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatgggcttcaaaagctcCagccaaacctgtaataacat	14	10	7	10	0	1	0	1	0	0	0	2	0	2	0	3	1	4	4	3	1	6	4			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:131233530C>T	ENST00000298542.4	-	3	346	c.171G>A	c.(169-171)ctG>ctA	p.L57L	FRMD7_ENST00000464296.1_Silent_p.L57L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	57	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCAAAAGCTCCAGCCAAACCT	0.338																																																	0													117	112	114					X																	131233530		2203	4300	6503	SO:0001819	synonymous_variant	0			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.171G>A	X.37:g.131233530C>T			C0LLJ3|Q5JX99	Silent	SNP	pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain	p.L57	ENST00000298542.4	37	c.171	CCDS35397.1	X																																																																																			FRMD7	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000165694		0.338	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD7	HGNC	protein_coding	OTTHUMT00000355031.1	-	0	88	0	C	NM_194277		131233530	-1	tier1	-	no_errors	ENST00000298542	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	131233530	C	T	131233530	2	4	163	1	0	0	0	0	0	0	0	1	6079	581	21	3		3	FRMD7	23	131233530	Silent	SNP	C	TCGA-VR-A8EQ-01A-11D-A36J-09	13333031	131233530	24037030	339	41544											
MAGEC3	139081	genome.wustl.edu	37	chrX	140983147	140983147	+	Silent	SNP	A	A	G	1	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	gcattttgcgaggagtctggActcaggtcagcagagggaag	10	8	16	7	1	3	1	2	0	1	1	3	5	3	4	0	4	2	2	0	4	1	2			TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:140983147A>G	ENST00000298296.1	+	5	1002	c.1002A>G	c.(1000-1002)ggA>ggG	p.G334G	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000448920.1_Silent_p.G86G|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000544766.1_5'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	334	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGTCTGGACTCAGGTCAG	0.577																																																	0													123	107	113					X																	140983147		2202	4300	6502	SO:0001819	synonymous_variant	0			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.1002A>G	X.37:g.140983147A>G			Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.G334	ENST00000298296.1	37	c.1002	CCDS14676.1	X																																																																																			MAGEC3	-	NULL	ENSG00000165509		0.577	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0	67	0	A	NM_138702		140983147	1	tier1	-	no_errors	ENST00000298296	ensembl	human	known	74_37	silent	12.00	44	6	SNP	0.000	G	G	140983147	A	G	140983147	2	3	163	1	0	0	0	0	0	0	0	1	9220	262	10	4		4	MAGEC3	23	140983147	Silent	SNP	A	TCGA-VR-A8EQ-01A-11D-A36J-09	9749617	140983147	14287413	340	41545											
BGN	633	genome.wustl.edu	37	chrX	152773854	152773854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagccggccactttccGctgcgtcactgaccgcctgg	4	8	13	16	4	1	1	1	1	0	0	2	1	2	1	5	3	3	2	5	3	0	1	rs368783683		TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:152773854G>A	ENST00000331595.4	+	8	1244	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	353					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACTTTCCGCTGCGTCACT	0.622																																																	0									HIS/ARG	0,3835		0,0,1632,571	83	69	74		1058	4.1	1	X		74	1,6727		0,1,2427,1872	no	missense	BGN	NM_001711.4	29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging	353/369	152773854	1,10562	2203	4300	6503	SO:0001583	missense	0			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1044	protein-coding gene	gene with protein product	"biglycan proteoglycan"	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.1058G>A	X.37:g.152773854G>A	ENSP00000327336:p.Arg353His		D3DWU3|P13247	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.R353H	ENST00000331595.4	37	c.1058	CCDS14721.1	X	.	.	.	.	.	.	.	.	.	.	g	28.4	4.914429	0.92178	0.0	1.49E-4	ENSG00000182492	ENST00000331595;ENST00000370204;ENST00000430380	T;T	0.56444	0.48;0.46	4.94	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.70894	0.3276	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73490	-0.3966	10	0.66056	D	0.02	-25.5409	11.675	0.51424	0.091:0.0:0.909:0.0	.	353	P21810	PGS1_HUMAN	H	353;292;292	ENSP00000327336:R353H;ENSP00000359223:R292H	ENSP00000327336:R353H	R	+	2	0	BGN	152427048	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.525000	0.81892	1.006000	0.39211	0.519000	0.50382	CGC	BGN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000182492		0.622	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGN	HGNC	protein_coding	OTTHUMT00000060981.1	-	0	28	0	G	NM_001711		152773854	1	tier1	-	no_errors	ENST00000331595	ensembl	human	known	74_37	missense	57.14	9	12	SNP	1.000	A	A	152773854	G	A	152773854	3	1	163	1	0	0	0	0	1	0	0	0	1420	1087	38	1	1084	1	BGN	23	152773854	Missense_Mutation	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	11790707	152773854	2496706	341	41546											
L1CAM	3897	genome.wustl.edu	37	chrX	153134086	153134086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcagaagtagcgtccGgtgtcattggcctggaggtc	7	8	16	10	2	1	1	1	0	0	1	3	2	2	2	3	5	1	2	3	5	2	2	rs150805225	byFrequency	TCGA-VR-A8EQ-01A-11D-A36J-09	TCGA-VR-A8EQ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	331f86e1-29ff-42c6-bd8e-773984894438	bbb323d3-ba48-46f1-b6f5-8174dadc4287	g.chrX:153134086G>A	ENST00000370060.1	-	13	1665	c.1476C>T	c.(1474-1476)acC>acT	p.T492T	L1CAM_ENST00000543994.1_Silent_p.T494T|L1CAM_ENST00000361981.3_Silent_p.T487T|L1CAM_ENST00000361699.4_Silent_p.T492T|L1CAM_ENST00000370057.3_Silent_p.T492T|L1CAM_ENST00000538883.1_Silent_p.T494T|L1CAM_ENST00000370055.1_Silent_p.T487T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	492	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGCGTCCGGTGTCATTGG	0.557													g|||	1	0.000264901	8e-04	0	3775	,	,		16721	0		0	False		,,,				2504	0																0								G	,,	1,3834		0,0,1,1632,570	139	99	113		1476,1461,1476	-11.2	0	X	dbSNP_134	113	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	L1CAM	NM_000425.3,NM_001143963.1,NM_024003.2	,,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	,,	492/1258,487/1249,492/1254	153134086	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1476C>T	X.37:g.153134086G>A			A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T494	ENST00000370060.1	37	c.1482	CCDS14733.1	X																																																																																			L1CAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000198910		0.557	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	-	0	15	0	G	NM_024003		153134086	-1	tier1	rs150805225	no_errors	ENST00000543994	ensembl	human	known	74_37	silent	42.11	11	8	SNP	0.012	A	A	153134086	G	A	153134086	2	1	163	1	0	0	0	0	0	0	0	1	8616	1103	39	1		1	L1CAM	23	153134086	Silent	SNP	G	TCGA-VR-A8EQ-01A-11D-A36J-09	360232	153134086	2136474	342	41547											
MTF2	22823	genome.wustl.edu	37	chr1	93599533	93599533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttggatttaccttgttctAtagggtaaatagaaagttat	12	17	8	4	0	1	1	0	0	1	1	1	2	1	2	1	2	1	3	1	2	8	10			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr1:93599533A>G	ENST00000370298.4	+	13	1604	c.1315A>G	c.(1315-1317)Ata>Gta	p.I439V	MTF2_ENST00000540243.1_Missense_Mutation_p.I337V|MTF2_ENST00000545708.1_Missense_Mutation_p.I337V|MTF2_ENST00000370303.4_Missense_Mutation_p.I382V|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	439					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		ACCTTGTTCTATAGGGTAAAT	0.264																																																	0													85	91	89					1																	93599533		2189	4293	6482	SO:0001583	missense	0			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"Tudor domain containing", "Zinc fingers, PHD-type"	29535	protein-coding gene	gene with protein product	"polycomb-like 2", "tudor domain containing 19A"	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1315A>G	1.37:g.93599533A>G	ENSP00000359321:p.Ile439Val		A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.I439V	ENST00000370298.4	37	c.1315	CCDS742.1	1	.	.	.	.	.	.	.	.	.	.	A	5.659	0.306208	0.10733	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000370303	T;T;T;T	0.28255	1.62;1.62;2.04;2.01	5.18	3.98	0.46160	.	0.498041	0.23347	N	0.049169	T	0.06600	0.0169	N	0.19112	0.55	0.24160	N	0.995661	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17592	-1.0364	10	0.27082	T	0.32	-1.3495	6.4454	0.21873	0.75:0.1596:0.0905:0.0	.	382;439;337	B1AKT6;Q9Y483;B4DZG1	.;MTF2_HUMAN;.	V	337;337;439;382	ENSP00000444962:I337V;ENSP00000443295:I337V;ENSP00000359321:I439V;ENSP00000359326:I382V	ENSP00000359321:I439V	I	+	1	0	MTF2	93372121	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.447000	0.35101	2.080000	0.62538	0.533000	0.62120	ATA	MTF2	-	NULL	ENSG00000143033		0.264	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF2	HGNC	protein_coding	OTTHUMT00000028075.3	-	0	36	0	A	NM_007358		93599533	1	tier1	-	no_errors	ENST00000370298	ensembl	human	known	74_37	missense	44.44	10	8	SNP	1.000	G	G	93599533	A	G	93599533	3	3	164	1	0	0	0	0	1	0	0	0	9961	449	16	4	1365	4	MTF2	1	93599533	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09		93599533	155651088	1	41548											
SASS6	163786	genome.wustl.edu	37	chr1	100568546	100568546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	agggtggctggtatttttggCagatatcgaatgagggaagg	10	11	17	3	1	0	2	0	1	0	1	1	4	0	3	0	6	0	3	0	6	4	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr1:100568546C>T	ENST00000287482.5	-	14	1779	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.A380T	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	547					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GTATTTTTGGCAGATATCGAA	0.398																																																	0													116	115	115					1																	100568546		2203	4300	6503	SO:0001583	missense	0			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1639G>A	1.37:g.100568546C>T	ENSP00000287482:p.Ala547Thr		D3DT55|Q8N3K0	Missense_Mutation	SNP	NULL	p.A547T	ENST00000287482.5	37	c.1639	CCDS764.1	1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737994	0.30774	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.46451	0.89;0.87	4.62	1.73	0.24493	.	1.063270	0.07247	N	0.865278	T	0.12902	0.0313	L	0.36672	1.1	0.21256	N	0.999747	B	0.09022	0.002	B	0.14578	0.011	T	0.33111	-0.9881	10	0.15499	T	0.54	1.5273	8.7564	0.34648	0.0:0.7469:0.0:0.2531	.	547	Q6UVJ0	SAS6_HUMAN	T	547;520;380	ENSP00000287482:A547T;ENSP00000440169:A380T	ENSP00000287482:A547T	A	-	1	0	SASS6	100341134	0.010000	0.17322	0.998000	0.56505	0.802000	0.45316	-0.228000	0.09114	0.681000	0.31386	0.549000	0.68633	GCC	SASS6	-	NULL	ENSG00000156876		0.398	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	-	0	46	0	C	NM_194292		100568546	-1	tier1	-	no_errors	ENST00000287482	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.951	T	T	100568546	C	T	100568546	3	4	164	1	0	0	0	0	1	0	0	0	13895	710	25	3	350	3	SASS6	1	100568546	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	6969013	100568546	148682075	2	41549											
CELSR2	1952	genome.wustl.edu	37	chr1	109814989	109814989	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacagcaccagtcgctcGggcaagagtcagcccagcta	10	5	11	15	2	1	1	1	0	0	1	3	1	1	1	2	1	4	5	2	1	2	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr1:109814989G>T	ENST00000271332.3	+	29	8077	c.8016G>T	c.(8014-8016)tcG>tcT	p.S2672S	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2672					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)	p.S2672S(1)		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)		CCAGTCGCTCGGGCAAGAGTC	0.657																																					NSCLC(158;1285 2011 34800 34852 42084)												1	Substitution - coding silent(1)	endometrium(1)											73	80	77					1																	109814989		2203	4300	6503	SO:0001819	synonymous_variant	0			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.8016G>T	1.37:g.109814989G>T			Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.S2672	ENST00000271332.3	37	c.8016	CCDS796.1	1																																																																																			CELSR2	-	NULL	ENSG00000143126		0.657	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0	47	0	G	NM_001408		109814989	1			no_errors	ENST00000271332	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.335	T	T	109814989	G	T	109814989	2	4	164	1	0	0	0	0	0	0	0	1	3229	1103	39	2		2	CELSR2	1	109814989	Silent	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	9246443	109814989	139435632	3	41550											
ADAM30	11085	genome.wustl.edu	37	chr1	120438761	120438761	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttcttgccttttaactGcagtaggtaggacacgggac	8	12	12	9	1	1	0	0	0	1	0	1	2	1	2	1	3	4	4	1	3	3	6			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr1:120438761G>A	ENST00000369400.1	-	1	357	c.199C>T	c.(199-201)Cag>Tag	p.Q67*		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	67					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTTTTAACTGCAGTAGGTAG	0.542																																																	0													86	79	81					1																	120438761		2203	4300	6503	SO:0001587	stop_gained	0			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.199C>T	1.37:g.120438761G>A	ENSP00000358407:p.Gln67*		A8K8W8|Q5T3X6|Q9UKF1	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q67*	ENST00000369400.1	37	c.199	CCDS907.1	1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245449	0.39697	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	.	.	.	4.75	0.53	0.17102	.	1.252050	0.05968	N	0.641867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	7.8727	0.29576	0.0:0.1469:0.428:0.4251	.	.	.	.	X	67	.	ENSP00000358407:Q67X	Q	-	1	0	ADAM30	120240284	0.000000	0.05858	0.019000	0.16419	0.006000	0.05464	-0.277000	0.08502	-0.048000	0.13401	-0.519000	0.04390	CAG	ADAM30	-	pfam_Peptidase_M12B_N	ENSG00000134249		0.542	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	HGNC	protein_coding	OTTHUMT00000033678.1		0	20	0	G	NM_021794		120438761	-1			no_errors	ENST00000369400	ensembl	human	known	74_37	nonsense	13.79	25	4	SNP	0.058	A	A	120438761	G	A	120438761	4	1	164	1	0	0	0	0	0	1	0	0	248	1328	46	3	2177	3	ADAM30	1	120438761	Nonsense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	10623772	120438761	128811860	4	41551											
TCHH	7062	genome.wustl.edu	37	chr1	152084720	152084720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctcgcgcctctcctGctgctcgcgcctctcctcct	0	12	8	21	4	2	0	0	0	2	0	7	0	3	0	5	0	4	4	5	0	0	0			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr1:152084720G>C	ENST00000368804.1	-	2	972	c.973C>G	c.(973-975)Cag>Gag	p.Q325E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	325	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)			cgcctctcctgctgctcgcgc	0.687																																																	0													20	23	22					1																	152084720		2079	4194	6273	SO:0001583	missense	0			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.973C>G	1.37:g.152084720G>C	ENSP00000357794:p.Gln325Glu		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Q325E	ENST00000368804.1	37	c.973	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	g	9.541	1.113458	0.20795	.	.	ENSG00000159450	ENST00000368804	T	0.05199	3.48	4.0	-5.01	0.02991	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48269	-0.9050	9	0.02654	T	1	.	17.5805	0.87966	0.0:0.1345:0.7857:0.0798	.	325	Q07283	TRHY_HUMAN	E	325	ENSP00000357794:Q325E	ENSP00000357794:Q325E	Q	-	1	0	TCHH	150351344	0.007000	0.16637	0.000000	0.03702	0.041000	0.13682	0.223000	0.17719	-0.765000	0.04645	-1.609000	0.00803	CAG	TCHH	-	NULL	ENSG00000159450		0.687	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	43	0	G	NM_007113		152084720	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	8.24	78	7	SNP	0.000	C	C	152084720	G	C	152084720	3	2	164	1	0	0	0	0	1	0	0	0	15747	1328	46	5	4862	5	TCHH	1	152084720	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	31645959	152084720	97165901	5	41552											
ASH1L	55870	genome.wustl.edu	37	chr1	155319190	155319190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagtaaccagtgaggatCtgcttctctatggtgataag	11	14	10	6	0	2	2	0	2	2	0	3	3	2	3	1	2	2	2	1	2	5	6			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr1:155319190C>A	ENST00000368346.3	-	19	8136	c.7497G>T	c.(7495-7497)caG>caT	p.Q2499H	ASH1L_ENST00000392403.3_Missense_Mutation_p.Q2494H|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2499	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)			CAGTGAGGATCTGCTTCTCTA	0.418																																																	0													98	96	96					1																	155319190		2203	4300	6503	SO:0001583	missense	0			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.7497G>T	1.37:g.155319190C>A	ENSP00000357330:p.Gln2499His		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.Q2499H	ENST00000368346.3	37	c.7497		1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999023	0.35226	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.18502	2.21;2.21	4.8	1.88	0.25563	Bromodomain (5);	0.189033	0.48767	D	0.000175	T	0.10465	0.0256	L	0.29908	0.895	0.80722	D	1	P;P	0.51933	0.949;0.937	P;P	0.55999	0.789;0.684	T	0.05616	-1.0874	10	0.56958	D	0.05	.	7.6748	0.28480	0.0:0.7132:0.1353:0.1515	.	2499;2494	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	2499;2494	ENSP00000357330:Q2499H;ENSP00000376204:Q2494H	ENSP00000357330:Q2499H	Q	-	3	2	ASH1L	153585814	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.162000	0.42367	0.236000	0.21180	0.555000	0.69702	CAG	ASH1L	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000116539		0.418	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	-	0	59	0	C	NM_018489		155319190	-1	tier1	-	no_errors	ENST00000368346	ensembl	human	known	74_37	missense	64.71	18	33	SNP	1.000	A	A	155319190	C	A	155319190	3	1	164	1	0	0	0	0	1	0	0	0	1042	912	32	3	1452	3	ASH1L	1	155319190	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	3234470	155319190	93931431	6	41553											
LMX1A	4009	genome.wustl.edu	37	chr1	165218762	165218762	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacccttctgaagctgtcGctcgcagacacagcagcaga	11	7	9	14	2	2	3	1	1	1	2	4	3	2	3	1	0	3	5	1	0	1	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr1:165218762G>A	ENST00000342310.3	-	4	761	c.379C>T	c.(379-381)Cga>Tga	p.R127*	LMX1A_ENST00000367893.4_Nonsense_Mutation_p.R127*|LMX1A_ENST00000294816.2_Nonsense_Mutation_p.R127*	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	127	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|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(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGAAGCTGTCGCTCGCAGACA	0.582																																																	0													65	63	64					1																	165218762		2203	4300	6503	SO:0001587	stop_gained	0			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.379C>T	1.37:g.165218762G>A	ENSP00000340226:p.Arg127*		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Nonsense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.R127*	ENST00000342310.3	37	c.379	CCDS1247.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.879041	0.97904	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	.	.	.	4.61	4.61	0.57282	.	0.253247	0.39985	N	0.001219	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1081	0.53823	0.0:0.0:0.8277:0.1723	.	.	.	.	X	127	.	ENSP00000294816:R127X	R	-	1	2	LMX1A	163485386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.889000	0.56212	2.395000	0.81488	0.585000	0.79938	CGA	LMX1A	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000162761		0.582	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMX1A	HGNC	protein_coding	OTTHUMT00000083668.2	-	0	43	0	G	NM_177398		165218762	-1	tier1	-	no_errors	ENST00000294816	ensembl	human	known	74_37	nonsense	46.67	16	14	SNP	1.000	A	A	165218762	G	A	165218762	4	1	164	1	0	0	0	0	0	1	0	0	8891	1095	38	1	793	1	LMX1A	1	165218762	Nonsense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	9899572	165218762	84031859	7	41554											
XPR1	9213	genome.wustl.edu	37	chr1	180601390	180601390	+	Missense_Mutation	SNP	A	A	C	1	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	cactcccgagtggaggaagcAatacatccagtatgaggtac	13	7	11	10	1	0	1	0	1	0	0	2	4	2	3	2	3	3	3	2	3	5	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr1:180601390A>C	ENST00000367590.4	+	1	251	c.53A>C	c.(52-54)cAa>cCa	p.Q18P	XPR1_ENST00000367589.3_Missense_Mutation_p.Q18P	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	18	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				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						TGGAGGAAGCAATACATCCAG	0.647																																																	0													61	51	54					1																	180601390		2203	4300	6503	SO:0001583	missense	0			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.53A>C	1.37:g.180601390A>C	ENSP00000356562:p.Gln18Pro		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	pfam_EXS_C,pfam_SPX_N	p.Q18P	ENST00000367590.4	37	c.53	CCDS1340.1	1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809045	0.70797	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.48522	0.81	4.95	4.95	0.65309	SPX, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.71728	0.3374	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.984	T	0.77907	-0.2412	10	0.87932	D	0	-5.7025	13.9007	0.63802	1.0:0.0:0.0:0.0	.	18;18	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	P	18	ENSP00000356562:Q18P	ENSP00000356561:Q18P	Q	+	2	0	XPR1	178868013	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.774000	0.75012	1.974000	0.57490	0.379000	0.24179	CAA	XPR1	-	pfam_SPX_N	ENSG00000143324		0.647	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPR1	HGNC	protein_coding	OTTHUMT00000084996.2	-	0	83	0	A	NM_004736		180601390	1	tier1	-	no_errors	ENST00000367590	ensembl	human	known	74_37	missense	10.67	67	8	SNP	1.000	C	C	180601390	A	C	180601390	3	2	164	1	0	0	0	0	1	0	0	0	17500	130	5	4	55	4	XPR1	1	180601390	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	15382628	180601390	68649231	8	41555											
C1orf57	84284	genome.wustl.edu	37	chr1	233113960	233113960	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatatcgtgacgtgcgtgCagagcagcaggaagtgaaga	13	6	15	7	3	0	5	0	2	0	3	1	6	0	6	0	1	4	3	0	1	3	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr1:233113960C>T	ENST00000366628.5	+	5	643	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	NTPCR_ENST00000490098.1_3'UTR	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	186						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(1)|ovary(1)	4						GACGTGCGTGCAGAGCAGCAG	0.542																																																	0													108	86	93					1																	233113960		2203	4300	6503	SO:0001587	stop_gained	0			BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"human cancer-related NTPase"		"chromosome 1 open reading frame 57"	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.556C>T	1.37:g.233113960C>T	ENSP00000355587:p.Gln186*			Nonsense_Mutation	SNP	pfam_Nuc-triphosphatase_THEP1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q186*	ENST00000366628.5	37	c.556	CCDS1597.1	1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862632	0.51482	.	.	ENSG00000135778	ENST00000366628	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.241	0.59997	0.0:0.8391:0.1609:0.0	.	.	.	.	X	186	.	ENSP00000355587:Q186X	Q	+	1	0	NTPCR	231180583	1.000000	0.71417	0.798000	0.32154	0.361000	0.29550	3.543000	0.53633	2.486000	0.83907	0.563000	0.77884	CAG	NTPCR	-	superfamily_P-loop_NTPase	ENSG00000135778		0.542	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTPCR	HGNC	protein_coding	OTTHUMT00000092324.2		0	54	0	C	NM_032324		233113960	1			no_errors	ENST00000366628	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	0.955	T	T	233113960	C	T	233113960	4	4	164	1	0	0	0	0	0	1	0	0	2056	711	25	3	574	3	C1orf57	1	233113960	Nonsense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	52512570	233113960	16136661	9	41556											
NID1	4811	genome.wustl.edu	37	chr1	236189263	236189263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctggttgtacaggacGaacacgctgtccaccgagag	9	8	11	13	3	0	1	0	0	0	1	3	4	3	2	4	2	2	3	4	2	2	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr1:236189263G>T	ENST00000264187.6	-	8	1999	c.1917C>A	c.(1915-1917)ttC>ttA	p.F639L	NID1_ENST00000366595.3_Missense_Mutation_p.F639L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	639	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TGTACAGGACGAACACGCTGT	0.602																																																	0													190	170	177					1																	236189263		2203	4300	6503	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1917C>A	1.37:g.236189263G>T	ENSP00000264187:p.Phe639Leu		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.F639L	ENST00000264187.6	37	c.1917	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837356	0.50951	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.22539	1.95;1.95	5.02	-5.26	0.02772	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.095178	0.64402	D	0.000001	T	0.16981	0.0408	M	0.63843	1.955	0.42444	D	0.99272	P;P	0.46656	0.882;0.735	B;B	0.38264	0.269;0.172	T	0.07009	-1.0795	10	0.48119	T	0.1	.	12.5501	0.56222	0.53:0.0:0.47:0.0	.	639;639	P14543-2;P14543	.;NID1_HUMAN	L	639	ENSP00000264187:F639L;ENSP00000355554:F639L	ENSP00000264187:F639L	F	-	3	2	NID1	234255886	0.938000	0.31826	0.901000	0.35422	0.939000	0.58152	0.146000	0.16180	-1.181000	0.02730	-1.105000	0.02106	TTC	NID1	-	superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F	ENSG00000116962		0.602	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2		0	20	0	G	NM_002508		236189263	-1			no_errors	ENST00000264187	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.958	T	T	236189263	G	T	236189263	3	4	164	1	0	0	0	0	1	0	0	0	10453	1049	37	2	1878	2	NID1	1	236189263	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	3075303	236189263	13061358	10	41557											
FMN2	56776	genome.wustl.edu	37	chr1	240494009	240494009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacaggcagatggctttgGattagacattcttccaaaac	13	10	10	8	0	1	2	0	0	1	2	2	4	2	4	1	4	1	2	1	4	3	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr1:240494009G>T	ENST00000319653.9	+	11	4774	c.4544G>T	c.(4543-4545)gGa>gTa	p.G1515V	FMN2_ENST00000545751.1_Missense_Mutation_p.G111V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1515	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)			GATGGCTTTGGATTAGACATT	0.418																																																	0													142	130	134					1																	240494009		2203	4300	6503	SO:0001583	missense	0			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.4544G>T	1.37:g.240494009G>T	ENSP00000318884:p.Gly1515Val		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.G1515V	ENST00000319653.9	37	c.4544	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117290	0.56505	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355	T;T	0.45276	0.9;0.9	5.67	5.67	0.87782	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.104888	0.41712	D	0.000837	T	0.64832	0.2634	M	0.73962	2.25	0.80722	D	1	P;P;D;D	0.76494	0.473;0.83;0.999;0.999	B;P;D;D	0.79784	0.265;0.586;0.961;0.993	T	0.67292	-0.5707	10	0.72032	D	0.01	.	15.2751	0.73737	0.0:0.1396:0.8604:0.0	.	111;161;144;1515	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	V	1515;111;142	ENSP00000318884:G1515V;ENSP00000437918:G111V	ENSP00000318884:G1515V	G	+	2	0	FMN2	238560632	0.980000	0.34600	1.000000	0.80357	0.982000	0.71751	2.008000	0.40893	2.666000	0.90696	0.655000	0.94253	GGA	FMN2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000155816		0.418	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2		0	99	0	G	XM_371352		240494009	1			no_errors	ENST00000319653	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.999	T	T	240494009	G	T	240494009	3	4	164	1	0	0	0	0	1	0	0	0	5972	1174	41	3	4586	3	FMN2	1	240494009	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	4304746	240494009	8756612	11	41558											
SNTG2	54221	genome.wustl.edu	37	chr2	1371139	1371139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgagttccaggacctgaggGctgtcctgcactgcatccac	7	9	11	14	1	0	1	0	1	0	0	4	3	3	2	4	2	2	4	4	2	0	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:1371139G>T	ENST00000308624.5	+	17	1642	c.1513G>T	c.(1513-1515)Gct>Tct	p.A505S	SNTG2_ENST00000407292.1_Missense_Mutation_p.A378S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	505					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGACCTGAGGGCTGTCCTGCA	0.458																																																	0													32	29	30					2																	1371139		692	1591	2283	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1513G>T	2.37:g.1371139G>T	ENSP00000311837:p.Ala505Ser		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A505S	ENST00000308624.5	37	c.1513	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	3.524	-0.097061	0.07010	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.69306	1.19;-0.39	4.91	3.04	0.35103	.	0.127499	0.52532	N	0.000068	T	0.53610	0.1807	L	0.56396	1.775	0.24325	N	0.99503	P;B	0.35628	0.513;0.379	B;B	0.34093	0.175;0.033	T	0.41998	-0.9477	10	0.07325	T	0.83	.	8.5982	0.33729	0.0808:0.0:0.766:0.1533	.	378;505	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	S	505;378	ENSP00000311837:A505S;ENSP00000385020:A378S	ENSP00000311837:A505S	A	+	1	0	SNTG2	1350146	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	4.496000	0.60360	0.999000	0.39023	0.655000	0.94253	GCT	SNTG2	-	NULL	ENSG00000172554		0.458	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1		0	28	0	G	NM_018968		1371139	1			no_errors	ENST00000308624	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.239	T	T	1371139	G	T	1371139	3	4	164	1	0	0	0	0	1	0	0	0	14920	1203	42	3	1579	3	SNTG2	2	1371139	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09		1371139	241828234	12	41559											
TRIB2	28951	genome.wustl.edu	37	chr2	12880890	12880890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgccggacgtcaacatGgaagagaacttggacccttt	10	9	12	10	2	1	1	1	0	0	1	1	5	1	4	2	4	3	0	2	4	3	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:12880890G>T	ENST00000155926.4	+	3	2421	c.1002G>T	c.(1000-1002)atG>atT	p.M334I	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	NM_021643.3	NP_067675.1			tribbles pseudokinase 2									p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGTCAACATGGAAGAGAACT	0.512																																																	2	Substitution - Missense(2)	lung(2)											78	72	74					2																	12880890		2203	4300	6503	SO:0001583	missense	0			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"tribbles homolog 2 (Drosophila)"			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.1002G>T	2.37:g.12880890G>T	ENSP00000155926:p.Met334Ile			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M334I	ENST00000155926.4	37	c.1002	CCDS1683.1	2	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597954	0.46318	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.43688	0.99;0.94	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.034920	0.85682	D	0.000000	T	0.36220	0.0959	L	0.29908	0.895	0.80722	D	1	B	0.14438	0.01	B	0.12837	0.008	T	0.04930	-1.0917	10	0.35671	T	0.21	-38.0385	19.354	0.94404	0.0:0.0:1.0:0.0	.	334	Q92519	TRIB2_HUMAN	I	334;198	ENSP00000155926:M334I;ENSP00000370874:M198I	ENSP00000155926:M334I	M	+	3	0	TRIB2	12798341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.912000	0.87465	2.820000	0.97059	0.650000	0.86243	ATG	TRIB2	-	superfamily_Kinase-like_dom	ENSG00000071575		0.512	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB2	HGNC	protein_coding	OTTHUMT00000207114.2		0	35	0	G	NM_021643		12880890	1			no_errors	ENST00000155926	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	12880890	G	T	12880890	3	4	164	1	0	0	0	0	1	0	0	0	16531	1348	47	3	1012	3	TRIB2	2	12880890	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	11509751	12880890	230318483	13	41560											
CDC42EP3	10602	genome.wustl.edu	37	chr2	37873326	37873326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagctttgctggcccGaaggactcctgtttggaatt	6	12	13	10	1	0	0	0	0	0	0	1	3	1	2	2	4	2	4	2	4	2	3	rs144871845		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:37873326G>T	ENST00000295324.3	-	2	1405	c.405C>A	c.(403-405)ttC>ttA	p.F135L	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	135					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TTGCTGGCCCGAAGGACTCCT	0.527																																																	0													48	49	49					2																	37873326		2203	4300	6503	SO:0001583	missense	0			AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.405C>A	2.37:g.37873326G>T	ENSP00000295324:p.Phe135Leu		B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom	p.F135L	ENST00000295324.3	37	c.405	CCDS1791.1	2	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.370632	0.01225	.	.	ENSG00000163171	ENST00000295324;ENST00000457889	T;T	0.28666	1.6;1.6	5.91	-9.21	0.00678	.	0.484899	0.22021	N	0.065725	T	0.09468	0.0233	N	0.16478	0.41	0.24729	N	0.993106	B	0.02656	0.0	B	0.01281	0.0	T	0.25082	-1.0142	10	0.11485	T	0.65	.	3.6558	0.08220	0.3191:0.2017:0.3808:0.0984	.	135	Q9UKI2	BORG2_HUMAN	L	135	ENSP00000295324:F135L;ENSP00000403298:F135L	ENSP00000295324:F135L	F	-	3	2	CDC42EP3	37726830	0.001000	0.12720	0.669000	0.29828	0.569000	0.35902	-1.151000	0.03175	-1.587000	0.01630	-1.140000	0.01884	TTC	CDC42EP3	-	NULL	ENSG00000163171		0.527	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP3	HGNC	protein_coding	OTTHUMT00000218581.3		0	22	0	G	NM_006449		37873326	-1			no_errors	ENST00000295324	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.146	T	T	37873326	G	T	37873326	3	4	164	1	0	0	0	0	1	0	0	0	3084	1049	37	2	363	2	CDC42EP3	2	37873326	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	24992436	37873326	205326047	14	41561											
PELI1	57162	genome.wustl.edu	37	chr2	64322157	64322157	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttatgatagccatgtacatgGccgcagtttagatataccca	12	12	8	9	1	0	2	0	1	0	1	0	2	0	2	3	1	3	3	3	1	6	7			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:64322157G>T	ENST00000358912.4	-	7	1378	c.936C>A	c.(934-936)ggC>ggA	p.G312G		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	312					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|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)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CATGTACATGGCCGCAGTTTA	0.438																																																	0													232	199	210					2																	64322157		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"Pellino homologs"	8827	protein-coding gene	gene with protein product		614797	"pellino (Drosophila) homolog 1", "pellino homolog 1 (Drosophila)"			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.936C>A	2.37:g.64322157G>T			Q96SM0|Q9GZY5|Q9HCX0	Silent	SNP	pfam_Pellino_fam	p.G312	ENST00000358912.4	37	c.936	CCDS1876.1	2																																																																																			PELI1	-	pfam_Pellino_fam	ENSG00000197329		0.438	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI1	HGNC	protein_coding	OTTHUMT00000251686.1	-	0	28	0	G	NM_020651		64322157	-1	tier1	-	no_errors	ENST00000358912	ensembl	human	known	74_37	silent	9.76	36	4	SNP	0.998	T	T	64322157	G	T	64322157	2	4	164	1	0	0	0	0	0	0	0	1	11760	1190	42	3		3	PELI1	2	64322157	Silent	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	26448831	64322157	178877216	15	41562											
SEMA4F	10505	genome.wustl.edu	37	chr2	74902937	74902937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatacaaccaactgtggccGtctccagagctgctcagagt	11	8	10	12	1	2	2	1	0	1	2	3	3	2	2	3	1	5	2	3	1	4	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:74902937G>A	ENST00000357877.2	+	12	1693	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	SEMA4F_ENST00000339773.5_Missense_Mutation_p.R360H|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	515	PSI.				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)	p.R515H(1)		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						AACTGTGGCCGTCTCCAGAGC	0.592																																																	1	Substitution - Missense(1)	endometrium(1)											95	90	92					2																	74902937		2203	4300	6503	SO:0001583	missense	0			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.1544G>A	2.37:g.74902937G>A	ENSP00000350547:p.Arg515His		Q542Y7|Q9NS35	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.R515H	ENST00000357877.2	37	c.1544	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896539	0.33442	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.18657	2.2;2.2	4.26	4.26	0.50523	.	0.091418	0.46758	D	0.000269	T	0.25158	0.0611	L	0.52905	1.665	0.21105	N	0.999787	B;P	0.52061	0.443;0.95	B;P	0.48552	0.253;0.581	T	0.08889	-1.0700	10	0.37606	T	0.19	.	9.4559	0.38753	0.0:0.0:0.7887:0.2113	.	360;515	O95754-2;O95754	.;SEM4F_HUMAN	H	515;360	ENSP00000350547:R515H;ENSP00000342675:R360H	ENSP00000342675:R360H	R	+	2	0	SEMA4F	74756445	0.000000	0.05858	0.999000	0.59377	0.884000	0.51177	-0.034000	0.12225	2.216000	0.71823	0.467000	0.42956	CGT	SEMA4F	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000135622		0.592	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	-	0	39	0	G	NM_004263		74902937	1	tier1	-	no_errors	ENST00000357877	ensembl	human	known	74_37	missense	35.29	33	18	SNP	0.429	A	A	74902937	G	A	74902937	3	1	164	1	0	0	0	0	1	0	0	0	14080	1145	40	1	1590	1	SEMA4F	2	74902937	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	10580780	74902937	168296436	16	41563											
TMEM150A	129303	genome.wustl.edu	37	chr2	85826346	85826346	+	Silent	SNP	G	G	T	0	0	1	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	ccaaactcgtagctgaaggtGccatagaaaatgaggatatc	15	8	10	8	1	0	3	0	2	0	1	2	4	0	4	2	2	3	2	2	2	7	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:85826346G>T	ENST00000409668.1	-	7	1136	c.669C>A	c.(667-669)ggC>ggA	p.G223G	TMEM150A_ENST00000306353.3_Silent_p.G170G|TMEM150A_ENST00000334462.5_Silent_p.G223G			Q86TG1	T150A_HUMAN	transmembrane protein 150A	223					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						AGCTGAAGGTGCCATAGAAAA	0.562																																																	0													88	68	75					2																	85826346		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"transmembrane protein 150"	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.669C>A	2.37:g.85826346G>T			A8K764|B7WPQ9|D6W5L2|Q8N2R6	Silent	SNP	pfam_Frag1/DRAM/Sfk1	p.G223	ENST00000409668.1	37	c.669	CCDS33233.1	2																																																																																			TMEM150A	-	pfam_Frag1/DRAM/Sfk1	ENSG00000168890		0.562	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM150A	HGNC	protein_coding	OTTHUMT00000329474.1	-	0	70	0	G	NM_153342		85826346	-1	tier1	-	no_errors	ENST00000334462	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T	T	85826346	G	T	85826346	2	4	164	1	0	0	0	0	0	0	0	1	16114	1306	46	3		3	TMEM150A	2	85826346	Silent	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	10923409	85826346	157373027	17	41564											
IL1R2	7850	genome.wustl.edu	37	chr2	102632364	102632364	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgacaaaatgtccattGagctcagagtttttgagaat	13	13	9	6	0	1	4	1	3	0	2	2	5	2	4	1	0	1	2	1	0	3	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:102632364G>T	ENST00000332549.3	+	4	593	c.364G>T	c.(364-366)Gag>Tag	p.E122*	IL1R2_ENST00000393414.2_Nonsense_Mutation_p.E122*|IL1R2_ENST00000441002.1_Nonsense_Mutation_p.E122*	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	122	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						AATGTCCATTGAGCTCAGAGT	0.363																																					Pancreas(106;189 1628 2302 5133 12295)												0													89	89	89					2																	102632364		2203	4300	6503	SO:0001587	stop_gained	0			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.364G>T	2.37:g.102632364G>T	ENSP00000330959:p.Glu122*		D3DVJ5|Q6LCE6|Q9UE68	Nonsense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ	p.E122*	ENST00000332549.3	37	c.364	CCDS2054.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.964719	0.97151	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	.	.	.	5.39	4.45	0.53987	.	0.738854	0.12985	N	0.422912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	11.7125	0.51633	0.0:0.2742:0.7258:0.0	.	.	.	.	X	122	.	ENSP00000330959:E122X	E	+	1	0	IL1R2	101998796	0.997000	0.39634	0.777000	0.31699	0.996000	0.88848	3.504000	0.53347	2.511000	0.84671	0.655000	0.94253	GAG	IL1R2	-	smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ	ENSG00000115590		0.363	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R2	HGNC	protein_coding	OTTHUMT00000253191.1	-	0	49	0	G	NM_004633		102632364	1	tier1	-	no_errors	ENST00000332549	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	0.724	T	T	102632364	G	T	102632364	4	4	164	1	0	0	0	0	0	1	0	0	7686	1291	45	3	374	3	IL1R2	2	102632364	Nonsense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	16806018	102632364	140567009	18	41565											
DPP10	57628	genome.wustl.edu	37	chr2	116548752	116548752	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatccttcatattgacgacTatggtaaaattttgtgcatg	13	15	7	6	1	1	1	1	1	0	0	2	2	2	1	1	1	1	2	1	1	5	7			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:116548752T>A	ENST00000410059.1	+	18	2107	c.1627T>A	c.(1627-1629)Tat>Aat	p.Y543N	DPP10_ENST00000409163.1_Missense_Mutation_p.Y493N|DPP10_ENST00000310323.8_Missense_Mutation_p.Y536N|DPP10_ENST00000393147.2_Missense_Mutation_p.Y547N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	543						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						TATTGACGACTATGGTAAAAT	0.323																																																	0													77	80	79					2																	116548752		2201	4299	6500	SO:0001583	missense	0			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.1627T>A	2.37:g.116548752T>A	ENSP00000386565:p.Tyr543Asn		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.Y547N	ENST00000410059.1	37	c.1639	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617114	0.66672	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.54	5.54	0.83059	.	0.351565	0.31134	N	0.008199	T	0.54967	0.1891	M	0.66297	2.02	0.46317	D	0.998985	P;D;P;P	0.64830	0.935;0.994;0.893;0.893	P;P;P;B	0.55161	0.473;0.77;0.453;0.281	T	0.56535	-0.7963	10	0.48119	T	0.1	-17.4871	13.5512	0.61734	0.0:0.0:0.0:1.0	.	536;547;539;543	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	543;493;547;536;493	ENSP00000386565:Y543N;ENSP00000387038:Y493N;ENSP00000376855:Y547N;ENSP00000309066:Y536N	ENSP00000309066:Y536N	Y	+	1	0	DPP10	116265222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.396000	0.66297	2.323000	0.78572	0.528000	0.53228	TAT	DPP10	-	NULL	ENSG00000175497		0.323	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0	21	0	T	NM_020868		116548752	1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	A	A	116548752	T	A	116548752	3	1	164	1	0	0	0	0	1	0	0	0	4741	1522	53	5	1868	5	DPP10	2	116548752	Missense_Mutation	SNP	T	TCGA-VR-A8ER-01A-11D-A36J-09	13916388	116548752	126650621	19	41566											
RAB3GAP1	22930	genome.wustl.edu	37	chr2	135920326	135920326	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctaaaatagaaagtctcGaaaacatttcttcagttaag	16	14	5	6	1	4	1	1	0	3	1	5	2	4	1	0	0	1	1	0	0	7	6			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:135920326G>T	ENST00000264158.8	+	21	2438	c.2395G>T	c.(2395-2397)Gaa>Taa	p.E799*	RAB3GAP1_ENST00000442034.1_Nonsense_Mutation_p.E799*|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Nonsense_Mutation_p.E755*|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	799					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)		AGAAAGTCTCGAAAACATTTC	0.303																																																	0													71	82	79					2																	135920326		2194	4297	6491	SO:0001587	stop_gained	0			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.2395G>T	2.37:g.135920326G>T	ENSP00000264158:p.Glu799*		A6H8Z3|C9J837|Q659F5|Q8TBB4	Nonsense_Mutation	SNP	NULL	p.E799*	ENST00000264158.8	37	c.2395	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.071473	0.98044	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-24.6108	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	799;755;799	.	ENSP00000264158:E799X	E	+	1	0	RAB3GAP1	135636796	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.839000	0.92120	2.882000	0.98803	0.655000	0.94253	GAA	RAB3GAP1	-	NULL	ENSG00000115839		0.303	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	HGNC	protein_coding	OTTHUMT00000337514.2	-	0	31	0	G	NM_012233		135920326	1	tier1	-	no_errors	ENST00000264158	ensembl	human	known	74_37	nonsense	13.64	19	3	SNP	1.000	T	T	135920326	G	T	135920326	4	4	164	1	0	0	0	0	0	1	0	0	12980	1059	37	2	2477	2	RAB3GAP1	2	135920326	Nonsense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	19371574	135920326	107279047	20	41567											
SCN7A	6332	genome.wustl.edu	37	chr2	167262253	167262253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcacgttgaatgatggttGctgaaactgcctcttgtttt	9	15	10	7	1	1	3	0	3	1	0	1	3	1	3	1	1	4	5	1	1	3	5			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:167262253G>T	ENST00000409855.1	-	25	5012	c.4886C>A	c.(4885-4887)gCa>gAa	p.A1629E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1629					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A1629E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AATGATGGTTGCTGAAACTGC	0.368																																																	1	Substitution - Missense(1)	prostate(1)											166	158	161					2																	167262253		1875	4107	5982	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4886C>A	2.37:g.167262253G>T	ENSP00000386796:p.Ala1629Glu			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.A1629E	ENST00000409855.1	37	c.4886	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461920	0.84425	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98105	-4.72	4.51	4.51	0.55191	.	0.000000	0.56097	D	0.000040	D	0.98807	0.9598	M	0.91354	3.2	0.54753	D	0.999983	D	0.89917	1.0	D	0.66716	0.946	D	0.99316	1.0905	10	0.87932	D	0	.	15.1081	0.72336	0.0:0.0:1.0:0.0	.	1629	Q01118	SCN7A_HUMAN	E	1629	ENSP00000386796:A1629E	ENSP00000259060:A1629E	A	-	2	0	SCN7A	166970499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.514000	0.84764	0.655000	0.94253	GCA	SCN7A	-	NULL	ENSG00000136546		0.368	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1		0	31	0	G			167262253	-1			no_errors	ENST00000409855	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	167262253	G	T	167262253	3	4	164	1	0	0	0	0	1	0	0	0	13968	1319	46	3	166	3	SCN7A	2	167262253	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	31341927	167262253	75937120	21	41568											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcgacttactccaagatCtatatcttgcctccaaagta	11	14	4	12	1	3	1	0	0	3	1	6	2	5	1	3	0	2	1	3	0	6	6			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	15	Substitution - Missense(15)	lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)											66	59	61					2																	178098960		1843	4100	5943	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>C	2.37:g.178098960C>G	ENSP00000380252:p.Asp29His		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.D29H	ENST00000397062.3	37	c.85	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072800	0.76415	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	13;29;13;13;13;13;13	ENSP00000380253:D13H;ENSP00000380252:D29H;ENSP00000411575:D13H;ENSP00000391590:D13H;ENSP00000400073:D13H;ENSP00000412191:D13H;ENSP00000410015:D13H	ENSP00000380252:D29H	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT	NFE2L2	-	NULL	ENSG00000116044		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0	20	0	C	NM_006164		178098960	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	24.19	47	15	SNP	1.000	G	G	178098960	C	G	178098960	3	3	164	1	0	0	0	0	1	0	0	0	10407	913	32	5	1748	5	NFE2L2	2	178098960	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	10836707	178098960	65100413	22	41569											
INPP1	3628	genome.wustl.edu	37	chr2	191235631	191235631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaacatgcattcactacagCtcaccatctctagaagaaac	15	8	4	14	0	3	2	2	0	1	2	4	2	3	2	2	0	5	2	2	0	5	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:191235631C>A	ENST00000322522.4	+	6	1159	c.703C>A	c.(703-705)Ctc>Atc	p.L235I	INPP1_ENST00000392329.2_Missense_Mutation_p.L235I|INPP1_ENST00000541441.1_Missense_Mutation_p.L235I	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	235					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			TTCACTACAGCTCACCATCTC	0.448																																					Melanoma(130;184 1743 2185 19805 38428)												0													181	187	185					2																	191235631		2203	4300	6503	SO:0001583	missense	0				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.703C>A	2.37:g.191235631C>A	ENSP00000325423:p.Leu235Ile			Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.L235I	ENST00000322522.4	37	c.703	CCDS2305.1	2	.	.	.	.	.	.	.	.	.	.	C	6.591	0.477316	0.12521	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441	T;T;T	0.56103	0.48;0.48;0.48	5.34	4.46	0.54185	.	1.411020	0.04311	N	0.348957	T	0.44850	0.1313	L	0.38838	1.175	0.09310	N	1	B	0.15930	0.015	B	0.12837	0.008	T	0.27226	-1.0080	10	0.22109	T	0.4	5.2621	7.9537	0.30029	0.0:0.8211:0.0:0.1789	.	235	P49441	INPP_HUMAN	I	235	ENSP00000376142:L235I;ENSP00000325423:L235I;ENSP00000440650:L235I	ENSP00000325423:L235I	L	+	1	0	INPP1	190943876	0.000000	0.05858	0.064000	0.19789	0.009000	0.06853	-0.312000	0.08113	1.491000	0.48482	0.449000	0.29647	CTC	INPP1	-	pfam_Inositol_monophosphatase	ENSG00000151689		0.448	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	HGNC	protein_coding	OTTHUMT00000255932.2	-	0	63	0	C			191235631	1	tier1	-	no_errors	ENST00000322522	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.022	A	A	191235631	C	A	191235631	3	1	164	1	0	0	0	0	1	0	0	0	7778	797	28	3	721	3	INPP1	2	191235631	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	13136671	191235631	51963742	23	41570											
NBEAL1	65065	genome.wustl.edu	37	chr2	203972214	203972214	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctgggtcagccaccactGgaattacttaaagaacttat	12	11	7	11	0	1	1	1	0	0	1	2	2	2	2	3	2	3	0	3	2	6	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:203972214G>T	ENST00000449802.1	+	12	1587	c.1254G>T	c.(1252-1254)ctG>ctT	p.L418L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	418										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						AGCCACCACTGGAATTACTTA	0.303																																																	0													81	73	76					2																	203972214		692	1588	2280	SO:0001819	synonymous_variant	0			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.1254G>T	2.37:g.203972214G>T			A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L418	ENST00000449802.1	37	c.1254	CCDS46495.1	2																																																																																			NBEAL1	-	superfamily_ARM-type_fold	ENSG00000144426		0.303	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4		0	65	0	G			203972214	1			no_errors	ENST00000449802	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.933	T	T	203972214	G	T	203972214	2	4	164	1	0	0	0	0	0	0	0	1	10226	1335	47	3		3	NBEAL1	2	203972214	Silent	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	12736583	203972214	39227159	24	41571											
ALPP	250	genome.wustl.edu	37	chr2	233244328	233244328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttgagtgcagccgccCgctttaaccagtgcaacacg	8	9	11	13	3	0	1	0	1	0	0	0	1	0	1	3	1	5	4	3	1	2	4	rs374101037		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:233244328C>A	ENST00000392027.2	+	4	684	c.415C>A	c.(415-417)Cgc>Agc	p.R139S	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	139					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)		TGCAGCCGCCCGCTTTAACCA	0.607																																																	0													48	43	45					2																	233244328		2202	4277	6479	SO:0001583	missense	0			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.415C>A	2.37:g.233244328C>A	ENSP00000375881:p.Arg139Ser		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.R139S	ENST00000392027.2	37	c.415	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	.	0.667	-0.803575	0.02841	.	.	ENSG00000163283	ENST00000392027	D	0.95622	-3.76	2.31	2.31	0.28768	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.728428	0.13701	N	0.368842	D	0.93177	0.7827	L	0.43554	1.36	0.32234	N	0.573602	P	0.48294	0.908	P	0.52189	0.692	D	0.90033	0.4136	10	0.22109	T	0.4	.	4.9408	0.13965	0.2179:0.5245:0.2576:0.0	.	139	P05187	PPB1_HUMAN	S	139	ENSP00000375881:R139S	ENSP00000375881:R139S	R	+	1	0	ALPP	232952572	0.000000	0.05858	0.087000	0.20705	0.140000	0.21249	0.146000	0.16180	1.289000	0.44618	0.298000	0.19748	CGC	ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163283		0.607	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3		0	52	0	C	NM_001632		233244328	1			no_errors	ENST00000392027	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.973	A	A	233244328	C	A	233244328	3	1	164	1	0	0	0	0	1	0	0	0	548	652	23	2	429	2	ALPP	2	233244328	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	29272114	233244328	9955045	25	41572											
ALPI	248	genome.wustl.edu	37	chr2	233322349	233322349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtacccagctgatgccagCcagaatggaatcaggctgga	12	6	13	10	0	1	2	1	1	0	1	1	5	1	4	3	3	4	3	3	3	3	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr2:233322349C>T	ENST00000295463.3	+	6	800	c.723C>T	c.(721-723)agC>agT	p.S241S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	241					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTGATGCCAGCCAGAATGGAA	0.622																																																	0													62	63	63					2																	233322349		2203	4300	6503	SO:0001819	synonymous_variant	0			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.723C>T	2.37:g.233322349C>T			B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.S241	ENST00000295463.3	37	c.723	CCDS2492.1	2																																																																																			ALPI	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163295		0.622	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPI	HGNC	protein_coding	OTTHUMT00000257035.2		0	110	0	C	NM_001631		233322349	1			no_errors	ENST00000295463	ensembl	human	known	74_37	silent	5.77	49	3	SNP	0.000	T	T	233322349	C	T	233322349	2	4	164	1	0	0	0	0	0	0	0	1	543	738	26	3		3	ALPI	2	233322349	Silent	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	78021	233322349	9877024	26	41573											
TTC21A	199223	genome.wustl.edu	37	chr3	39172257	39172257	+	Silent	SNP	C	C	A	0	0	0	1	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	tttctgtgctgcgatctgggCaaactgctcctgaagttaaa	9	13	10	9	1	2	1	0	1	2	0	3	2	3	1	1	1	4	4	1	1	4	2	rs375866926		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:39172257C>A	ENST00000431162.2	+	18	2540	c.2406C>A	c.(2404-2406)ggC>ggA	p.G802G	TTC21A_ENST00000440121.1_Silent_p.G754G|TTC21A_ENST00000301819.6_Silent_p.G803G			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	802				G -> D (in Ref. 2; BAG63755). {ECO:0000305}.						NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCGATCTGGGCAAACTGCTCC	0.433																																																	0													88	87	87					3																	39172257		1940	4151	6091	SO:0001819	synonymous_variant	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2406C>A	3.37:g.39172257C>A			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G803	ENST00000431162.2	37	c.2409	CCDS46800.1	3																																																																																			TTC21A	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000168026		0.433	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	-	0	56	0	C	NM_145755		39172257	1	tier1	-	no_errors	ENST00000301819	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.861	A	A	39172257	C	A	39172257	2	1	164	1	0	0	0	0	0	0	0	1	16736	697	25	3		3	TTC21A	3	39172257	Silent	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09		39172257	158850173	27	41574											
ZNF660	285349	genome.wustl.edu	37	chr3	44636478	44636478	+	Frame_Shift_Del	DEL	C	C	-																															atcgaaaccttgttgatcatCagagagttcacactggagag																										TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:44636478delC	ENST00000322734.2	+	3	1126	c.793delC	c.(793-795)cagfs	p.Q265fs	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGTTGATCATCAGAGAGTTCA	0.388																																																	0													53	55	54					3																	44636478		2203	4300	6503	SO:0001589	frameshift_variant	0			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.793delC	3.37:g.44636478delC	ENSP00000324605:p.Gln265fs		Q7Z331|Q8N9M8	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q265fs	ENST00000322734.2	37	c.793	CCDS2716.1	3																																																																																			ZNF660	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000144792		0.388	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF660	HGNC	protein_coding	OTTHUMT00000256756.4		0	57	0	C	NM_173658		44636478	1	tier1		no_errors	ENST00000322734	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	0.996	-	-	44636478	C	-	44636478	7	5	164	1	0	1	0	1	0	0	0	0	18118	827	29	0	795	0	ZNF660	3	44636478	Frame_Shift_Del	DEL	C	TCGA-VR-A8ER-01A-11D-A36J-09	5464221	44636478	153385952	28	41575											
AMIGO3	29925	genome.wustl.edu	37	chr3	49755552	49755552	+	3'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagactacgtgcttgtggacGctggccttgcggctgggtgc	5	10	16	10	3	0	1	0	0	0	1	0	2	0	2	1	4	4	3	1	4	2	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:49755552G>A	ENST00000480687.1	-	0	4832				AMIGO3_ENST00000535833.1_Silent_p.S449S|AMIGO3_ENST00000320431.7_Silent_p.S449S|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_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)		GCTTGTGGACGCTGGCCTTGC	0.647																																																	0													86	81	82					3																	49755552		2203	4299	6502	SO:0001624	3_prime_UTR_variant	0			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.*3633C>T	3.37:g.49755552G>A			A8K6N5|Q9H7U3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S449	ENST00000480687.1	37	c.1347	CCDS2803.1	3																																																																																			AMIGO3	-	NULL	ENSG00000176020		0.647	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO3	HGNC	protein_coding	OTTHUMT00000350291.1	-	0	55	0	G	NM_013334		49755552	-1	tier1	-	no_errors	ENST00000320431	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.913	A	A	49755552	G	A	49755552	1	1	164	0	1	0	0	0	0	0	0	0	577	1078	38	1		1	AMIGO3	3	49755552	3'UTR	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	5119074	49755552	148266878	29	41576											
RBM5	10181	genome.wustl.edu	37	chr3	50150892	50150892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacgtgccagctgcagagtCtagctcccaccagcagtcgg	8	7	11	15	2	1	1	0	0	1	1	3	1	2	1	3	1	6	4	3	1	2	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:50150892C>T	ENST00000347869.3	+	18	1707	c.1532C>T	c.(1531-1533)tCt>tTt	p.S511F	RBM5_ENST00000441812.2_3'UTR|RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	511	Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.				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)		GCTGCAGAGTCTAGCTCCCAC	0.488																																																	0													88	104	99					3																	50150892		2203	4300	6503	SO:0001583	missense	0			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.1532C>T	3.37:g.50150892C>T	ENSP00000343054:p.Ser511Phe		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.S511F	ENST00000347869.3	37	c.1532	CCDS2810.1	3	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321372	0.60634	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.15952	2.38	5.56	4.67	0.58626	.	0.602089	0.16374	N	0.217218	T	0.11367	0.0277	N	0.08118	0	0.22851	N	0.99866	B;P	0.44478	0.158;0.836	B;B	0.42738	0.089;0.396	T	0.12785	-1.0534	10	0.62326	D	0.03	-4.9011	12.8027	0.57594	0.0:0.596:0.404:0.0	.	201;511	Q59HE6;P52756	.;RBM5_HUMAN	F	511;510;201	ENSP00000343054:S511F	ENSP00000343054:S511F	S	+	2	0	RBM5	50125896	0.709000	0.27886	0.250000	0.24296	0.948000	0.59901	4.009000	0.57110	2.608000	0.88229	0.563000	0.77884	TCT	RBM5	-	NULL	ENSG00000003756		0.488	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3	-	0	55	0	C	NM_005778		50150892	1	tier1	-	no_errors	ENST00000347869	ensembl	human	known	74_37	missense	53.33	21	24	SNP	0.008	T	T	50150892	C	T	50150892	3	4	164	1	0	0	0	0	1	0	0	0	13188	913	32	3	1598	3	RBM5	3	50150892	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	395340	50150892	147871538	30	41577											
DCP1A	55802	genome.wustl.edu	37	chr3	53326271	53326271	+	Missense_Mutation	SNP	T	T	C	0	1	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	gttgtgtctgtatttggtcaTgctgtggggtcaacctgagt	5	16	14	6	0	3	1	2	1	1	0	3	1	3	1	1	3	2	3	1	3	2	3	rs375539952		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:53326271T>C	ENST00000607628.1	-	7	1320	c.1211A>G	c.(1210-1212)cAt>cGt	p.H404R	Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Missense_Mutation_p.H366R|DCP1A_ENST00000294241.6_Missense_Mutation_p.H404R	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	404					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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TATTTGGTCATGCTGTGGGGT	0.542																																																	0								T	ARG/HIS	0,4112		0,0,2056	239	239	239		1211	3.9	1	3		239	1,8429		0,1,4214	no	missense	DCP1A	NM_018403.5	29	0,1,6270	CC,CT,TT		0.0119,0.0,0.0080	possibly-damaging	404/585	53326271	1,12541	2056	4215	6271	SO:0001583	missense	0			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.1211A>G	3.37:g.53326271T>C	ENSP00000475920:p.His404Arg		B4DHN9|U3KQM8	Missense_Mutation	SNP	pfam_DCP1	p.H404R	ENST00000607628.1	37	c.1211		3																																																																																			DCP1A	-	NULL	ENSG00000162290		0.542	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	DCP1A	HGNC	protein_coding		-	0	47	0	T	NM_018403		53326271	-1	tier1	-	no_errors	ENST00000607628	ensembl	human	known	74_37	missense	58.33	20	28	SNP	1.000	C	C	53326271	T	C	53326271	3	2	164	1	0	0	0	0	1	0	0	0	4307	1464	51	4	553	4	DCP1A	3	53326271	Missense_Mutation	SNP	T	TCGA-VR-A8ER-01A-11D-A36J-09	3175379	53326271	144696159	31	41578											
OR5H1	26341	genome.wustl.edu	37	chr3	97851821	97851821	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaagagtaagatgatatctCtctctgaatgcaagatacag	15	11	8	7	0	2	5	0	2	2	3	4	5	2	5	0	0	2	2	0	0	6	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:97851821C>G	ENST00000354565.2	+	1	280	c.280C>G	c.(280-282)Ctc>Gtc	p.L94V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	94						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						GATGATATCTCTCTCTGAATG	0.398																																																	0													159	157	157					3																	97851821		2203	4299	6502	SO:0001583	missense	0			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.280C>G	3.37:g.97851821C>G	ENSP00000346575:p.Leu94Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L94V	ENST00000354565.2	37	c.280	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	C	1.797	-0.478151	0.04414	.	.	ENSG00000231192	ENST00000354565	T	0.00478	7.13	3.48	-1.63	0.08345	GPCR, rhodopsin-like superfamily (1);	1.009930	0.07969	N	0.983766	T	0.00328	0.0010	L	0.33485	1.01	0.09310	N	1	B	0.12630	0.006	B	0.17433	0.018	T	0.38067	-0.9678	10	0.56958	D	0.05	.	3.753	0.08573	0.1893:0.2493:0.0:0.5614	.	94	A6NKK0	OR5H1_HUMAN	V	94	ENSP00000346575:L94V	ENSP00000346575:L94V	L	+	1	0	OR5H1	99334511	0.000000	0.05858	0.031000	0.17742	0.028000	0.11728	0.746000	0.26275	0.028000	0.15324	0.195000	0.17529	CTC	OR5H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000231192		0.398	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	-	0	71	0	C	NM_001005338		97851821	1	tier1	-	no_errors	ENST00000354565	ensembl	human	known	74_37	missense	15.32	105	19	SNP	0.009	G	G	97851821	C	G	97851821	3	3	164	1	0	0	0	0	1	0	0	0	11198	913	32	5	282	5	OR5H1	3	97851821	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	44525550	97851821	100170609	32	41579											
TOMM70A	9868	genome.wustl.edu	37	chr3	100105093	100105093	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttcttattgtctagcttCtcatgggcttttgcacgtct	4	19	7	11	1	4	0	1	0	4	0	6	0	5	0	1	1	2	3	1	1	2	7			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:100105093C>T	ENST00000284320.5	-	3	1042	c.594G>A	c.(592-594)gaG>gaA	p.E198E		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	198					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TGTCTAGCTTCTCATGGGCTT	0.333																																																	0													177	172	174					3																	100105093		2203	4299	6502	SO:0001819	synonymous_variant	0			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"Tetratricopeptide (TTC) repeat domain containing"	11985	protein-coding gene	gene with protein product		606081	"translocase of outer mitochondrial membrane 70 (yeast) homolog A", "translocase of outer mitochondrial membrane 70 homolog A (yeast)"			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.594G>A	3.37:g.100105093C>T			D3DN48	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E198	ENST00000284320.5	37	c.594	CCDS33807.1	3																																																																																			TOMM70A	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000154174		0.333	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM70A	HGNC	protein_coding	OTTHUMT00000353141.2	-	0	61	0	C			100105093	-1	tier1	-	no_errors	ENST00000284320	ensembl	human	known	74_37	silent	22.88	91	27	SNP	1.000	T	T	100105093	C	T	100105093	2	4	164	1	0	0	0	0	0	0	0	1	16410	912	32	3		3	TOMM70A	3	100105093	Silent	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	2253272	100105093	97917337	33	41580											
PHLDB2	90102	genome.wustl.edu	37	chr3	111603468	111603468	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctggccatgtggaatGgaagttccctgagtgatgct	7	11	13	10	1	0	2	0	2	0	0	2	4	2	4	3	3	1	3	3	3	2	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:111603468G>T	ENST00000431670.2	+	2	955	c.544G>T	c.(544-546)Gga>Tga	p.G182*	PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.G182*|PHLDB2_ENST00000478922.1_Nonsense_Mutation_p.G182*|PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.G182*|PHLDB2_ENST00000477695.1_Nonsense_Mutation_p.G182*|PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.G209*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.G182*	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	182						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CATGTGGAATGGAAGTTCCCT	0.532																																																	0													59	59	59					3																	111603468		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.544G>T	3.37:g.111603468G>T	ENSP00000405405:p.Gly182*		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G182*	ENST00000431670.2	37	c.544	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.368942	0.97511	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	.	.	.	5.61	5.61	0.85477	.	0.113648	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.9138	0.86146	0.0:0.0:1.0:0.0	.	.	.	.	X	209;209;182;182;182;182;182;182;182	.	ENSP00000352764:G209X	G	+	1	0	PHLDB2	113086158	1.000000	0.71417	0.867000	0.34043	0.989000	0.77384	7.070000	0.76763	2.813000	0.96785	0.655000	0.94253	GGA	PHLDB2	-	NULL	ENSG00000144824		0.532	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1		0	27	0	G	NM_145753		111603468	1			no_errors	ENST00000393925	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	1.000	T	T	111603468	G	T	111603468	4	4	164	1	0	0	0	0	0	1	0	0	11891	1349	47	3	631	3	PHLDB2	3	111603468	Nonsense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	11498375	111603468	86418962	34	41581											
GOLGB1	2804	genome.wustl.edu	37	chr3	121383785	121383785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcttacccttcgacaactGttgcttgtaagatctattaa	10	15	5	11	1	2	1	0	0	2	1	3	2	2	1	2	0	3	3	2	0	5	7			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:121383785G>T	ENST00000340645.5	-	21	9758	c.9633C>A	c.(9631-9633)aaC>aaA	p.N3211K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.N3221K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3211					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)		TTCGACAACTGTTGCTTGTAA	0.488																																																	0													143	132	136					3																	121383785		2203	4300	6503	SO:0001583	missense	0			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.9633C>A	3.37:g.121383785G>T	ENSP00000341848:p.Asn3211Lys		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.N3211K	ENST00000340645.5	37	c.9633	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	9.734	1.163131	0.21538	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.13538	2.58;2.58	5.53	2.56	0.30785	.	0.561531	0.19284	N	0.118091	T	0.06508	0.0167	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27068	0.167;0.167;0.063	B;B;B	0.24394	0.053;0.053;0.031	T	0.37197	-0.9716	10	0.21014	T	0.42	.	6.0446	0.19752	0.3243:0.0:0.6757:0.0	.	3221;3221;3211	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	K	3211;3221	ENSP00000341848:N3211K;ENSP00000377275:N3221K	ENSP00000341848:N3211K	N	-	3	2	GOLGB1	122866475	0.001000	0.12720	0.487000	0.27428	0.953000	0.61014	0.650000	0.24858	0.871000	0.35750	0.655000	0.94253	AAC	GOLGB1	-	NULL	ENSG00000173230		0.488	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0	48	0	G	NM_004487		121383785	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	16.95	97	20	SNP	0.056	T	T	121383785	G	T	121383785	3	4	164	1	0	0	0	0	1	0	0	0	6591	1368	48	3	154	3	GOLGB1	3	121383785	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	9780317	121383785	76638645	35	41582											
ITGB5	3693	genome.wustl.edu	37	chr3	124538659	124538659	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctgccaatttctctccaAgcaaggcaagggatggatag	11	10	10	10	0	2	0	0	0	2	0	5	2	3	2	2	3	2	2	2	3	5	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:124538659A>G	ENST00000296181.4	-	7	1261	c.965T>C	c.(964-966)cTt>cCt	p.L322P		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	322	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)		TTTCTCTCCAAGCAAGGCAAG	0.478																																																	0													206	181	190					3																	124538659		2203	4300	6503	SO:0001583	missense	0			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.965T>C	3.37:g.124538659A>G	ENSP00000296181:p.Leu322Pro		B0LPF8|B2RD70	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	p.L322P	ENST00000296181.4	37	c.965	CCDS3030.1	3	.	.	.	.	.	.	.	.	.	.	A	23.3	4.399068	0.83120	.	.	ENSG00000082781	ENST00000296181	D	0.99319	-5.74	5.38	5.38	0.77491	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.134374	0.52532	D	0.000078	D	0.99444	0.9803	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98604	1.0660	10	0.87932	D	0	.	15.5495	0.76137	1.0:0.0:0.0:0.0	.	322	P18084	ITB5_HUMAN	P	322	ENSP00000296181:L322P	ENSP00000296181:L322P	L	-	2	0	ITGB5	126021349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.107000	0.94261	2.248000	0.74166	0.460000	0.39030	CTT	ITGB5	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	ENSG00000082781		0.478	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3	-	0	51	0	A	NM_002213		124538659	-1	tier1	-	no_errors	ENST00000296181	ensembl	human	known	74_37	missense	18.46	106	24	SNP	1.000	G	G	124538659	A	G	124538659	3	3	164	1	0	0	0	0	1	0	0	0	7925	72	3	4	1470	4	ITGB5	3	124538659	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	3154874	124538659	73483771	36	41583											
NCEH1	57552	genome.wustl.edu	37	chr3	172428680	172428680	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcgtccagcagcatcagcTtccaggggtcggacacggag	8	6	15	12	3	1	0	1	0	0	0	4	2	3	2	2	5	3	3	2	5	0	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:172428680T>C	ENST00000475381.1	-	1	328	c.95A>G	c.(94-96)aAg>aGg	p.K32R	NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000273512.3_Missense_Mutation_p.K64R|NCEH1_ENST00000538775.1_Missense_Mutation_p.K64R			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	32					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CAGCATCAGCTTCCAGGGGTC	0.617											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													49	46	47					3																	172428680		2203	4300	6503	SO:0001583	missense	0			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.95A>G	3.37:g.172428680T>C	ENSP00000418571:p.Lys32Arg	1900	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.K64R	ENST00000475381.1	37	c.191		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	13.83|13.83	2.355603|2.355603	0.41700|0.41700	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512|ENST00000424772	T;T;T|.	0.05319|.	3.47;3.46;3.46|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.146507|.	0.64402|.	N|.	0.000011|.	T|T	0.53126|0.53126	0.1777|0.1777	L|L	0.37850|0.37850	1.14|1.14	0.80722|0.80722	D|D	1|1	B;B|.	0.24368|.	0.102;0.015|.	B;B|.	0.24541|.	0.054;0.012|.	T|T	0.50482|0.50482	-0.8823|-0.8823	10|5	0.35671|.	T|.	0.21|.	-24.9913|-24.9913	9.2917|9.2917	0.37791|0.37791	0.0:0.0833:0.0:0.9167|0.0:0.0833:0.0:0.9167	.|.	64;32|.	F5H7K4;Q6PIU2|.	.;NCEH1_HUMAN|.	R|G	32;64;64|55	ENSP00000418571:K32R;ENSP00000442464:K64R;ENSP00000273512:K64R|.	ENSP00000273512:K64R|.	K|S	-|-	2|1	0|0	NCEH1|NCEH1	173911374|173911374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.479000|0.479000	0.33129|0.33129	3.830000|3.830000	0.55768|0.55768	2.217000|2.217000	0.71921|0.71921	0.448000|0.448000	0.29417|0.29417	AAG|AGC	NCEH1	-	pirsf_Arylacetamide_deacetylase	ENSG00000144959		0.617	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NCEH1	HGNC	protein_coding	OTTHUMT00000346367.3	-	0	48	0	T	NM_020792		172428680	-1	tier1	-	no_errors	ENST00000538775	ensembl	human	known	74_37	missense	23.62	97	30	SNP	1.000	C	C	172428680	T	C	172428680	3	2	164	1	0	0	0	0	1	0	0	0	10254	1609	56	4	1175	4	NCEH1	3	172428680	Missense_Mutation	SNP	T	TCGA-VR-A8ER-01A-11D-A36J-09	47890021	172428680	25593750	37	41584											
TTC14	151613	genome.wustl.edu	37	chr3	180328087	180328087	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	aaatacaaaaaatacgctcaCtctggatcacgtgatttcag	16	10	6	9	2	4	1	3	1	1	0	4	2	4	2	0	1	2	1	0	1	6	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:180328087C>G	ENST00000296015.4	+	12	2202	c.2070C>G	c.(2068-2070)caC>caG	p.H690Q	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	690							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)			AATACGCTCACTCTGGATCAC	0.398																																																	0													74	77	76					3																	180328087		2203	4299	6502	SO:0001583	missense	0			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.2070C>G	3.37:g.180328087C>G	ENSP00000296015:p.His690Gln		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.H690Q	ENST00000296015.4	37	c.2070	CCDS3237.1	3	.	.	.	.	.	.	.	.	.	.	C	2.248	-0.372249	0.05034	.	.	ENSG00000163728	ENST00000296015	T	0.16457	2.34	6.04	-5.66	0.02451	.	0.770284	0.12549	N	0.459229	T	0.10337	0.0253	N	0.14661	0.345	0.09310	N	1	P	0.42078	0.77	B	0.40134	0.32	T	0.02581	-1.1138	10	0.27785	T	0.31	-2.4867	18.7937	0.91985	0.0:0.7801:0.0:0.2199	.	690	Q96N46	TTC14_HUMAN	Q	690	ENSP00000296015:H690Q	ENSP00000296015:H690Q	H	+	3	2	TTC14	181810781	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-2.050000	0.01404	-1.084000	0.03092	-0.251000	0.11542	CAC	TTC14	-	NULL	ENSG00000163728		0.398	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC14	HGNC	protein_coding	OTTHUMT00000349786.1	-	0	47	0	C	NM_133462		180328087	1	tier1	-	no_errors	ENST00000296015	ensembl	human	known	74_37	missense	20.00	60	15	SNP	0.000	G	G	180328087	C	G	180328087	3	3	164	1	0	0	0	0	1	0	0	0	16730	564	20	5	2146	5	TTC14	3	180328087	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	7899407	180328087	17694343	38	41585											
PSMD2	5708	genome.wustl.edu	37	chr3	184024572	184024572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggattgcccttattgctAtgggggaggagattggtgca	7	12	17	5	0	0	1	0	0	0	1	0	4	0	3	1	6	3	2	1	6	2	5	rs562725422	byFrequency	TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr3:184024572A>G	ENST00000310118.4	+	16	2542	c.1984A>G	c.(1984-1986)Atg>Gtg	p.M662V	PSMD2_ENST00000439383.1_Missense_Mutation_p.M532V|PSMD2_ENST00000435761.1_Missense_Mutation_p.M503V|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	662					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)	CCTTATTGCTATGGGGGAGGA	0.463													A|||	7	0.00139776	0	0	5008	,	,		16957	0		0	False		,,,				2504	0.0072				Colon(24;313 636 6917 9932 15554)												0													181	177	178					3																	184024572		2203	4300	6503	SO:0001583	missense	0			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.1984A>G	3.37:g.184024572A>G	ENSP00000310129:p.Met662Val		B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	p.M662V	ENST00000310118.4	37	c.1984	CCDS3258.1	3	.	.	.	.	.	.	.	.	.	.	A	18.18	3.566234	0.65651	.	.	ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.30448	1.53;1.53;1.53	5.36	5.36	0.76844	Armadillo-type fold (1);	0.067709	0.85682	D	0.000000	T	0.50735	0.1633	M	0.88640	2.97	0.80722	D	1	B;B	0.31435	0.128;0.323	B;B	0.41332	0.114;0.354	T	0.58470	-0.7631	10	0.87932	D	0	-26.827	15.5211	0.75866	1.0:0.0:0.0:0.0	.	503;662	E9PCS3;Q13200	.;PSMD2_HUMAN	V	662;654;503;532	ENSP00000310129:M662V;ENSP00000402618:M503V;ENSP00000416028:M532V	ENSP00000310129:M662V	M	+	1	0	PSMD2	185507266	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.679000	0.91220	2.245000	0.73994	0.454000	0.30748	ATG	PSMD2	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	ENSG00000175166		0.463	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD2	HGNC	protein_coding	OTTHUMT00000345843.1	-	0	76	0	A	NM_002808		184024572	1	tier1	-	no_errors	ENST00000310118	ensembl	human	known	74_37	missense	17.00	166	34	SNP	1.000	G	G	184024572	A	G	184024572	3	3	164	1	0	0	0	0	1	0	0	0	12740	449	16	4	2046	4	PSMD2	3	184024572	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	3696485	184024572	13997858	39	41586											
WHSC1	7468	genome.wustl.edu	37	chr4	1959724	1959724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaagcccgagaaacacaGgagagcgagcgcaagccccc	14	0	14	13	3	0	2	0	0	0	2	0	6	0	3	3	2	5	1	3	2	3	0			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr4:1959724G>T	ENST00000382895.3	+	18	3377	c.2946G>T	c.(2944-2946)caG>caT	p.Q982H	WHSC1_ENST00000508803.1_Missense_Mutation_p.Q982H|WHSC1_ENST00000382892.2_Missense_Mutation_p.Q982H|WHSC1_ENST00000382888.3_Missense_Mutation_p.Q330H|WHSC1_ENST00000382891.5_Missense_Mutation_p.Q982H|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	982					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)		GAGAAACACAGGAGAGCGAGC	0.527			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													76	76	76					4																	1959724		2203	4300	6503	SO:0001583	missense	0			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.2946G>T	4.37:g.1959724G>T	ENSP00000372351:p.Gln982His		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.Q982H	ENST00000382895.3	37	c.2946	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408502	0.42715	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.16	2.32	0.28847	.	0.122032	0.36815	N	0.002395	T	0.76912	0.4054	L	0.31294	0.92	0.80722	D	1	B;P	0.40660	0.064;0.726	B;B	0.32583	0.052;0.148	T	0.69026	-0.5254	10	0.40728	T	0.16	.	5.9236	0.19096	0.2333:0.0:0.6342:0.1325	.	330;982	A2A2T2;O96028	.;NSD2_HUMAN	H	982;982;982;982;330	ENSP00000423972:Q982H;ENSP00000372347:Q982H;ENSP00000372348:Q982H;ENSP00000372351:Q982H;ENSP00000372344:Q330H	ENSP00000372344:Q330H	Q	+	3	2	WHSC1	1929522	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	1.514000	0.35834	0.214000	0.20742	0.655000	0.94253	CAG	WHSC1	-	NULL	ENSG00000109685		0.527	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	-	0	47	0	G	NM_133330		1959724	1	tier1	-	no_errors	ENST00000382891	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.999	T	T	1959724	G	T	1959724	3	4	164	1	0	0	0	0	1	0	0	0	17411	991	35	3	3080	3	WHSC1	4	1959724	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09		1959724	189194552	40	41587											
C4orf19	55286	genome.wustl.edu	37	chr4	37591834	37591834	+	Frame_Shift_Del	DEL	A	A	-																															gcagtgaagtcttggtgcagAaaaatgaccctcagaggcag																										TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr4:37591834delA	ENST00000284437.6	+	3	335	c.157delA	c.(157-159)aaafs	p.K53fs	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Frame_Shift_Del_p.K53fs|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	53										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CTTGGTGCAGAAAAATGACCC	0.527																																																	0													138	147	144					4																	37591834		2203	4300	6503	SO:0001589	frameshift_variant	0			BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.157delA	4.37:g.37591834delA	ENSP00000284437:p.Lys53fs		Q9NV03	Frame_Shift_Del	DEL	NULL	p.N54fs	ENST00000284437.6	37	c.157	CCDS3442.1	4																																																																																			C4orf19	-	NULL	ENSG00000154274		0.527	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf19	HGNC	protein_coding	OTTHUMT00000250432.1		0	50	0	A	NM_018302		37591834	1	tier1		no_errors	ENST00000284437	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	0.000	-	-	37591834	A	-	37591834	7	5	164	1	0	1	0	1	0	0	0	0	2260	247	9	0	163	0	C4orf19	4	37591834	Frame_Shift_Del	DEL	A	TCGA-VR-A8ER-01A-11D-A36J-09	35632110	37591834	153562442	41	41588											
ATP8A1	10396	genome.wustl.edu	37	chr4	42457409	42457409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctctcaaatattccaaGagttaaaggaggcattgctg	13	12	9	7	0	2	2	1	1	1	1	4	3	3	3	1	2	1	3	1	2	5	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr4:42457409G>T	ENST00000381668.5	-	29	2953	c.2722C>A	c.(2722-2724)Ctt>Att	p.L908I	ATP8A1_ENST00000264449.10_Missense_Mutation_p.L893I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	908					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)	p.L908V(1)|p.L893V(1)		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)	AATATTCCAAGAGTTAAAGGA	0.403																																																	2	Substitution - Missense(2)	lung(2)											150	142	145					4																	42457409		2203	4300	6503	SO:0001583	missense	0			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.2722C>A	4.37:g.42457409G>T	ENSP00000371084:p.Leu908Ile		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L908I	ENST00000381668.5	37	c.2722	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723234	0.30503	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.93547	-3.24;-3.24	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000015	D	0.89326	0.6683	N	0.21142	0.635	0.80722	D	1	B;B;B	0.21606	0.058;0.018;0.018	B;B;B	0.29077	0.098;0.021;0.021	D	0.84809	0.0789	10	0.24483	T	0.36	.	18.8625	0.92278	0.0:0.0:1.0:0.0	.	893;908;900	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	I	908;893	ENSP00000371084:L908I;ENSP00000264449:L893I	ENSP00000264449:L893I	L	-	1	0	ATP8A1	42152166	1.000000	0.71417	0.984000	0.44739	0.938000	0.57974	6.155000	0.71833	2.509000	0.84616	0.557000	0.71058	CTT	ATP8A1	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000124406		0.403	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2		0	35	0	G	NM_006095		42457409	-1			no_errors	ENST00000381668	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	42457409	G	T	42457409	3	4	164	1	0	0	0	0	1	0	0	0	1193	942	33	3	808	3	ATP8A1	4	42457409	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	4865575	42457409	148696867	42	41589											
USP46	64854	genome.wustl.edu	37	chr4	53494205	53494205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgctgtggaaaaggtcCgccaggcacgtcagcaagtt	11	7	13	10	2	1	0	1	0	0	0	2	1	2	1	2	3	2	5	2	3	4	1	rs531415307		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr4:53494205C>T	ENST00000441222.3	-	3	427	c.243G>A	c.(241-243)gcG>gcA	p.A81A	USP46_ENST00000451218.2_Silent_p.A54A|USP46_ENST00000508499.1_Silent_p.A74A	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	81	USP.		A -> V (in dbSNP:rs17475800).		adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GGAAAAGGTCCGCCAGGCACG	0.493													C|||	1	0.000199681	0	0	5008	,	,		21572	0		0.001	False		,,,				2504	0																0													102	98	99					4																	53494205		2008	4165	6173	SO:0001819	synonymous_variant	0			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.243G>A	4.37:g.53494205C>T			B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.A81	ENST00000441222.3	37	c.243	CCDS47053.1	4																																																																																			USP46	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000109189		0.493	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP46	HGNC	protein_coding	OTTHUMT00000361516.2	-	0	71	0	C	NM_022832		53494205	-1	tier1	-	no_errors	ENST00000441222	ensembl	human	known	74_37	silent	27.06	62	23	SNP	0.988	T	T	53494205	C	T	53494205	2	4	164	1	0	0	0	0	0	0	0	1	17126	639	23	1		1	USP46	4	53494205	Silent	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	11036796	53494205	137660071	43	41590											
CDKL2	8999	genome.wustl.edu	37	chr4	76522219	76522219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggggaattgccacgcttgGattccttgtgtggtccacgc	5	12	14	10	2	0	0	0	0	0	0	2	2	2	2	3	4	1	1	3	4	1	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr4:76522219G>T	ENST00000429927.2	-	9	1925	c.1222C>A	c.(1222-1224)Cca>Aca	p.P408T	CDKL2_ENST00000307465.4_Missense_Mutation_p.P408T	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	408					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)			GCCACGCTTGGATTCCTTGTG	0.483																																																	0													272	240	250					4																	76522219		2203	4300	6503	SO:0001583	missense	0			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.1222C>A	4.37:g.76522219G>T	ENSP00000412365:p.Pro408Thr		B2R695	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P408T	ENST00000429927.2	37	c.1222	CCDS3570.1	4	.	.	.	.	.	.	.	.	.	.	G	4.824	0.153266	0.09185	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.71698	0.97;-0.59	4.74	1.89	0.25635	.	.	.	.	.	T	0.54127	0.1839	L	0.29908	0.895	0.09310	N	1	B;B	0.34181	0.376;0.44	B;B	0.30401	0.115;0.075	T	0.38308	-0.9667	9	0.42905	T	0.14	-3.0971	7.6162	0.28158	0.0885:0.3132:0.5983:0.0	.	408;408	B4DH08;Q92772	.;CDKL2_HUMAN	T	408	ENSP00000412365:P408T;ENSP00000306340:P408T	ENSP00000306340:P408T	P	-	1	0	CDKL2	76741243	0.339000	0.24784	0.004000	0.12327	0.003000	0.03518	1.295000	0.33377	0.157000	0.19338	0.591000	0.81541	CCA	CDKL2	-	NULL	ENSG00000138769		0.483	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	HGNC	protein_coding	OTTHUMT00000252409.2		0	54	0	G	NM_003948		76522219	-1			no_errors	ENST00000429927	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.019	T	T	76522219	G	T	76522219	3	4	164	1	0	0	0	0	1	0	0	0	3161	1174	41	3	271	3	CDKL2	4	76522219	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	23028014	76522219	114632057	44	41591											
FAT4	79633	genome.wustl.edu	37	chr4	126370789	126370789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacaatgctccaagatttaGcagaacttcctattatttag	13	14	6	8	0	0	3	0	1	0	2	2	3	2	3	2	0	3	2	2	0	7	7			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr4:126370789G>T	ENST00000394329.3	+	9	8631	c.8618G>T	c.(8617-8619)aGc>aTc	p.S2873I	FAT4_ENST00000335110.5_Missense_Mutation_p.S1171I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2873	Cadherin 28. {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)	p.S2873N(2)		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						CCAAGATTTAGCAGAACTTCC	0.403																																																	2	Substitution - Missense(2)	large_intestine(2)											86	84	84					4																	126370789		2203	4299	6502	SO:0001583	missense	0			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.8618G>T	4.37:g.126370789G>T	ENSP00000377862:p.Ser2873Ile		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S2873I	ENST00000394329.3	37	c.8618	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	7.383	0.629210	0.14257	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02656	4.21;4.21	5.51	3.71	0.42584	Cadherin (2);Cadherin-like (1);	0.248852	0.21060	U	0.080842	T	0.04182	0.0116	L	0.57536	1.79	0.39252	D	0.964056	P;P;P	0.48089	0.773;0.756;0.905	B;B;B	0.39419	0.246;0.221;0.299	T	0.46843	-0.9162	10	0.59425	D	0.04	.	11.004	0.47622	0.0747:0.3032:0.6221:0.0	.	1171;2873;2873	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	2873;1171	ENSP00000377862:S2873I;ENSP00000335169:S1171I	ENSP00000335169:S1171I	S	+	2	0	FAT4	126590239	1.000000	0.71417	0.990000	0.47175	0.153000	0.21895	4.172000	0.58243	1.418000	0.47098	0.655000	0.94253	AGC	FAT4	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196159		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0	33	0	G	NM_024582		126370789	1			no_errors	ENST00000394329	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	126370789	G	T	126370789	3	4	164	1	0	0	0	0	1	0	0	0	5714	971	34	3	8652	3	FAT4	4	126370789	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	49848570	126370789	64783487	45	41592											
DCHS2	54798	genome.wustl.edu	37	chr4	155244405	155244405	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagattcaggtcaggattttGtttgtttgtttgtttgtttg	5	22	11	3	0	2	1	2	0	0	1	2	2	2	2	0	2	0	5	0	2	0	8	rs199840326|rs140019361		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr4:155244405G>T	ENST00000357232.4	-	13	2653				DCHS2_ENST00000339452.1_Missense_Mutation_p.N1365K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						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)		tCAGGATtttgtttgtttgtt	0.378																																																	0													78	42	53					4																	155244405		692	1591	2283	SO:0001627	intron_variant	0			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.2654-765C>A	4.37:g.155244405G>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N1365K	ENST00000357232.4	37	c.4095	CCDS3785.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.197|3.197	-0.164472|-0.164472	0.06502|0.06502	.|.	.|.	ENSG00000197410|ENSG00000197410	ENST00000339452|ENST00000544161	T|.	0.56275|.	0.47|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.18676|0.18676	0.0448|0.0448	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.19200|.	0.034|.	B|.	0.06405|.	0.002|.	T|T	0.28364|0.28364	-1.0046|-1.0046	7|3	0.21540|.	T|.	0.41|.	.|.	.|.	.|.	.|.	.|.	1365|.	E9PC11|.	.|.	K|K	1365|1364	ENSP00000345062:N1365K|.	ENSP00000345062:N1365K|.	N|T	-|-	3|2	2|0	DCHS2|DCHS2	155463855|155463855	.|.	.|.	0.009000|0.009000	0.14445|0.14445	0.024000|0.024000	0.10985|0.10985	.|.	.|.	0.000000|0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	AAC|ACA	DCHS2	-	NULL	ENSG00000197410		0.378	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2		0	29	0	G	NM_001142552		155244405	-1			no_errors	ENST00000339452	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.009	T	T	155244405	G	T	155244405	1	4	164	0	1	0	0	0	0	0	0	0	4297	1368	48	3		3	DCHS2	4	155244405	Intron	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	28873616	155244405	35909871	46	41593											
FSTL5	56884	genome.wustl.edu	37	chr4	162697208	162697208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcatcttgctgtattcaGtagtcttgcacttatctcct	6	20	5	10	0	5	0	2	0	3	0	6	0	5	0	1	0	2	4	1	0	3	8			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr4:162697208G>T	ENST00000306100.5	-	5	864	c.428C>A	c.(427-429)aCt>aAt	p.T143N	FSTL5_ENST00000536695.1_Missense_Mutation_p.T142N|FSTL5_ENST00000427802.2_Missense_Mutation_p.T142N|FSTL5_ENST00000379164.4_Missense_Mutation_p.T142N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	143						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)		GCTGTATTCAGTAGTCTTGCA	0.264																																																	0													39	38	39					4																	162697208		2200	4290	6490	SO:0001583	missense	0			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.428C>A	4.37:g.162697208G>T	ENSP00000305334:p.Thr143Asn		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.T143N	ENST00000306100.5	37	c.428	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	G	9.960	1.222451	0.22457	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.72615	-0.65;-0.64;-0.67;-0.64	5.3	2.53	0.30540	.	0.464087	0.25469	N	0.030441	T	0.62122	0.2402	L	0.57536	1.79	0.33597	D	0.601827	B;B;B	0.18166	0.026;0.0;0.0	B;B;B	0.18263	0.021;0.001;0.0	T	0.60732	-0.7205	10	0.33141	T	0.24	.	7.7176	0.28712	0.144:0.0:0.7236:0.1324	.	142;142;143	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	143;142;142;142	ENSP00000305334:T143N;ENSP00000368462:T142N;ENSP00000389270:T142N;ENSP00000440409:T142N	ENSP00000305334:T143N	T	-	2	0	FSTL5	162916658	1.000000	0.71417	0.645000	0.29479	0.947000	0.59692	1.603000	0.36794	0.269000	0.21961	0.650000	0.86243	ACT	FSTL5	-	NULL	ENSG00000168843		0.264	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	-	0	14	0	G	NM_020116		162697208	-1	tier1	-	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	42.86	16	12	SNP	0.910	T	T	162697208	G	T	162697208	3	4	164	1	0	0	0	0	1	0	0	0	6104	1029	36	3	2163	3	FSTL5	4	162697208	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	7452803	162697208	28457068	47	41594											
ENPP6	133121	genome.wustl.edu	37	chr4	185012359	185012359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggaagagaagaatcagtgCcagggcacagtggctgggcc	12	4	16	9	0	1	2	1	0	0	2	1	4	1	3	2	4	1	2	2	4	3	0	rs146403093		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr4:185012359C>T	ENST00000296741.2	-	8	1435	c.1294G>A	c.(1294-1296)Gca>Aca	p.A432T		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	432					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)		AGAATCAGTGCCAGGGCACAG	0.552																																																	0								C	THR/ALA	5,4401	9.9+/-24.2	0,5,2198	68	72	71		1294	3.2	0.8	4	dbSNP_134	71	0,8600		0,0,4300	no	missense	ENPP6	NM_153343.3	58	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	possibly-damaging	432/441	185012359	5,13001	2203	4300	6503	SO:0001583	missense	0			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.1294G>A	4.37:g.185012359C>T	ENSP00000296741:p.Ala432Thr		Q4W5Q1|Q96M57	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.A432T	ENST00000296741.2	37	c.1294	CCDS3834.1	4	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598520	0.46318	0.001135	0.0	ENSG00000164303	ENST00000296741	T	0.75477	-0.94	5.98	3.2	0.36748	.	3.750420	0.01065	N	0.004711	T	0.64768	0.2628	L	0.28274	0.84	0.21499	N	0.999668	B	0.14012	0.009	B	0.09377	0.004	T	0.47560	-0.9108	10	0.25751	T	0.34	-13.8217	8.5822	0.33634	0.0:0.6318:0.236:0.1321	.	432	Q6UWR7	ENPP6_HUMAN	T	432	ENSP00000296741:A432T	ENSP00000296741:A432T	A	-	1	0	ENPP6	185249353	0.889000	0.30405	0.828000	0.32881	0.005000	0.04900	0.617000	0.24359	0.842000	0.35045	-0.229000	0.12294	GCA	ENPP6	-	NULL	ENSG00000164303		0.552	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP6	HGNC	protein_coding	OTTHUMT00000361428.1		0	26	0	C	NM_153343		185012359	-1			no_errors	ENST00000296741	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.462	T	T	185012359	C	T	185012359	3	4	164	1	0	0	0	0	1	0	0	0	5150	739	26	3	32	3	ENPP6	4	185012359	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	22315151	185012359	6141917	48	41595											
PRDM9	56979	genome.wustl.edu	37	chr5	23509631	23509631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cttcaccaaggaagaatgggCagagatgggagactgggaga	14	5	16	6	0	1	4	1	0	0	4	1	8	1	5	1	4	0	1	1	4	3	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr5:23509631C>A	ENST00000296682.3	+	3	304	c.122C>A	c.(121-123)gCa>gAa	p.A41E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	41	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.A41E(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						GAAGAATGGGCAGAGATGGGA	0.423										HNSCC(3;0.000094)																																							1	Substitution - Missense(1)	lung(1)											211	196	201					5																	23509631		1867	4117	5984	SO:0001583	missense	0			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.122C>A	5.37:g.23509631C>A	ENSP00000296682:p.Ala41Glu		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.A41E	ENST00000296682.3	37	c.122	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	C	8.631	0.893627	0.17613	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.01505	4.82;4.82	2.76	1.85	0.25348	Krueppel-associated box-related (1);Krueppel-associated box (3);	.	.	.	.	T	0.01387	0.0045	N	0.13327	0.33	0.22975	N	0.998484	B	0.24920	0.114	B	0.25506	0.061	T	0.48692	-0.9013	9	0.39692	T	0.17	.	6.8651	0.24088	0.2759:0.7241:0.0:0.0	.	41	Q9NQV7	PRDM9_HUMAN	E	41	ENSP00000425471:A41E;ENSP00000296682:A41E	ENSP00000296682:A41E	A	+	2	0	PRDM9	23545388	0.993000	0.37304	0.953000	0.39169	0.882000	0.50991	0.030000	0.13688	0.686000	0.31488	0.609000	0.83330	GCA	PRDM9	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	ENSG00000164256		0.423	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1		0	89	0	C	NM_020227		23509631	1			no_errors	ENST00000296682	ensembl	human	known	74_37	missense	6.12	45	3	SNP	0.958	A	A	23509631	C	A	23509631	3	1	164	1	0	0	0	0	1	0	0	0	12505	710	25	3	128	3	PRDM9	5	23509631	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09		23509631	157405629	49	41596											
ITGA1	3672	genome.wustl.edu	37	chr5	52194096	52194096	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcatgcttggagcagtaggaGcctatgattggaatggaaca	12	10	13	6	0	1	1	1	1	0	0	1	5	1	5	1	4	4	3	1	4	4	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr5:52194096G>T	ENST00000282588.6	+	11	1650	c.1192G>T	c.(1192-1194)Gcc>Tcc	p.A398S		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	398					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)				AGCAGTAGGAGCCTATGATTG	0.343																																																	0													78	71	73					5																	52194096		2202	4300	6502	SO:0001583	missense	0			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.1192G>T	5.37:g.52194096G>T	ENSP00000282588:p.Ala398Ser		B2RNU0	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A398S	ENST00000282588.6	37	c.1192	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.406956	0.96051	.	.	ENSG00000213949	ENST00000282588	T	0.68181	-0.31	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	L	0.33753	1.03	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.64373	-0.6423	10	0.13470	T	0.59	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	398	P56199	ITA1_HUMAN	S	398	ENSP00000282588:A398S	ENSP00000282588:A398S	A	+	1	0	ITGA1	52229853	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.149000	0.94659	2.873000	0.98535	0.561000	0.74099	GCC	ITGA1	-	NULL	ENSG00000213949		0.343	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	-	0	47	0	G	NM_181501		52194096	1	tier1	-	no_errors	ENST00000282588	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	52194096	G	T	52194096	3	4	164	1	0	0	0	0	1	0	0	0	7899	971	34	3	1234	3	ITGA1	5	52194096	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	28684465	52194096	128721164	50	41597											
ERBB2IP	55914	genome.wustl.edu	37	chr5	65349797	65349797	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattggagggctaaaaatctAtgatattcttagtgataatg	14	14	10	3	0	2	2	0	2	2	0	2	4	2	3	0	2	0	1	0	2	7	7			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr5:65349797A>G	ENST00000284037.5	+	21	3040	c.2651A>G	c.(2650-2652)tAt>tGt	p.Y884C	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.Y880C|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.Y884C|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.Y884C|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.Y884C|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.Y884C|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.Y884C|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.Y884C|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.Y884C	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	884					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)		CTAAAAATCTATGATATTCTT	0.398																																																	0													452	448	449					5																	65349797		2203	4300	6503	SO:0001583	missense	0				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.2651A>G	5.37:g.65349797A>G	ENSP00000284037:p.Tyr884Cys		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Y884C	ENST00000284037.5	37	c.2651	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393056	0.62066	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.75260	-0.71;-0.7;-0.67;-0.45;-0.92;-0.44;-0.7;-0.65;-0.92	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.80675	0.4668	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;P;D;D	0.97110	1.0;0.999;0.999;0.998;0.87;1.0;0.999	T	0.82979	-0.0188	10	0.87932	D	0	.	15.9353	0.79698	1.0:0.0:0.0:0.0	.	884;884;884;880;884;884;884	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	C	884;884;884;884;884;884;880;884;884	ENSP00000284037:Y884C;ENSP00000370330:Y884C;ENSP00000370326:Y884C;ENSP00000370323:Y884C;ENSP00000370322:Y884C;ENSP00000370325:Y884C;ENSP00000422766:Y880C;ENSP00000426632:Y884C;ENSP00000422015:Y884C	ENSP00000284037:Y884C	Y	+	2	0	ERBB2IP	65385553	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.322000	0.52007	2.159000	0.67721	0.460000	0.39030	TAT	ERBB2IP	-	NULL	ENSG00000112851		0.398	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	-	0	45	0	A	NM_018695		65349797	1	tier1	-	no_errors	ENST00000284037	ensembl	human	known	74_37	missense	37.21	27	16	SNP	1.000	G	G	65349797	A	G	65349797	3	3	164	1	0	0	0	0	1	0	0	0	5223	449	16	4	2725	4	ERBB2IP	5	65349797	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	13155701	65349797	115565463	51	41598											
SLC30A5	64924	genome.wustl.edu	37	chr5	68423939	68423939	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgacatctgatgtgctaGaacaaagaatagtacagcag	16	8	11	6	0	1	4	0	2	1	2	1	4	1	4	0	1	4	3	0	1	6	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr5:68423939G>C	ENST00000396591.3	+	15	2717	c.2107G>C	c.(2107-2109)Gaa>Caa	p.E703Q	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	703					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)		TGATGTGCTAGAACAAAGAAT	0.348																																																	0													125	131	129					5																	68423939		2203	4300	6503	SO:0001583	missense	0			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.2107G>C	5.37:g.68423939G>C	ENSP00000379836:p.Glu703Gln		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.E703Q	ENST00000396591.3	37	c.2107	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118766	0.77323	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.65364	-0.15	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	L	0.41236	1.265	0.80722	D	1	P	0.45569	0.861	P	0.55667	0.781	T	0.69544	-0.5117	10	0.52906	T	0.07	.	18.4567	0.90722	0.0:0.0:1.0:0.0	.	703	Q8TAD4	ZNT5_HUMAN	Q	703;298	ENSP00000379836:E703Q	ENSP00000379836:E703Q	E	+	1	0	SLC30A5	68459695	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.411000	0.97342	2.689000	0.91719	0.491000	0.48974	GAA	SLC30A5	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000145740		0.348	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	-	0	65	0	G			68423939	1	tier1	-	no_errors	ENST00000396591	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	C	C	68423939	G	C	68423939	3	2	164	1	0	0	0	0	1	0	0	0	14603	943	33	5	2253	5	SLC30A5	5	68423939	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	3074142	68423939	112491321	52	41599											
MAP1B	4131	genome.wustl.edu	37	chr5	71493451	71493451	+	Missense_Mutation	SNP	A	A	T	1	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	gatgacaaggcttctggcagAggtgccgaaagtccttttga	10	10	13	8	1	1	3	0	2	1	1	2	5	2	3	2	3	1	2	2	3	2	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr5:71493451A>T	ENST00000296755.7	+	5	4567	c.4269A>T	c.(4267-4269)agA>agT	p.R1423S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1423					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)		CTTCTGGCAGAGGTGCCGAAA	0.438																																					Melanoma(17;367 822 11631 31730 47712)												0													45	47	46					5																	71493451		2203	4299	6502	SO:0001583	missense	0			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.4269A>T	5.37:g.71493451A>T	ENSP00000296755:p.Arg1423Ser		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.R1423S	ENST00000296755.7	37	c.4269	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	A	3.789	-0.044143	0.07452	.	.	ENSG00000131711	ENST00000296755	T	0.03717	3.83	5.15	2.72	0.32119	.	0.087877	0.49916	D	0.000133	T	0.02342	0.0072	N	0.24115	0.695	0.21697	N	0.99958	B;P	0.35328	0.255;0.495	B;B	0.24974	0.057;0.057	T	0.49153	-0.8969	10	0.29301	T	0.29	-10.2232	9.1202	0.36782	0.8488:0.0:0.1512:0.0	.	1297;1423	A2BDK6;P46821	.;MAP1B_HUMAN	S	1423	ENSP00000296755:R1423S	ENSP00000296755:R1423S	R	+	3	2	MAP1B	71529207	0.999000	0.42202	0.013000	0.15412	0.149000	0.21700	4.120000	0.57897	0.777000	0.33496	0.454000	0.30748	AGA	MAP1B	-	NULL	ENSG00000131711		0.438	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0	45	0	A	NM_005909		71493451	1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	27.78	13	5	SNP	0.228	T	T	71493451	A	T	71493451	3	4	164	1	0	0	0	0	1	0	0	0	9266	301	11	5	4287	5	MAP1B	5	71493451	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	3069512	71493451	109421809	53	41600											
SPATA9	83890	genome.wustl.edu	37	chr5	95018554	95018554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacccaacaggtttgattGgcatggtgagttcttgcttg	7	14	11	9	0	1	2	0	2	1	0	2	2	2	2	2	3	2	4	2	3	1	5			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr5:95018554G>T	ENST00000274432.8	-	1	146	c.5C>A	c.(4-6)cCa>cAa	p.P2Q	SPATA9_ENST00000395899.3_Missense_Mutation_p.P2Q|RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	2					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		AGGTTTGATTGGCATGGTGAG	0.463																																																	0													150	144	146					5																	95018554		2203	4300	6503	SO:0001583	missense	0			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.5C>A	5.37:g.95018554G>T	ENSP00000274432:p.Pro2Gln		A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	NULL	p.P2Q	ENST00000274432.8	37	c.5	CCDS4076.1	5	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957262	0.53400	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.45668	0.89	4.8	2.94	0.34122	.	0.485483	0.17410	N	0.175226	T	0.27832	0.0685	N	0.19112	0.55	0.23210	N	0.998113	P	0.37207	0.587	B	0.40066	0.318	T	0.11842	-1.0571	10	0.56958	D	0.05	-1.0216	5.6401	0.17559	0.1011:0.0:0.6986:0.2003	.	2	Q9BWV2	SPAT9_HUMAN	Q	2	ENSP00000274432:P2Q	ENSP00000274432:P2Q	P	-	2	0	SPATA9	95044310	0.915000	0.31059	0.733000	0.30861	0.919000	0.55068	1.171000	0.31896	0.565000	0.29255	0.563000	0.77884	CCA	SPATA9	-	NULL	ENSG00000145757		0.463	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA9	HGNC	protein_coding	OTTHUMT00000304036.1		0	54	0	G	NM_031952		95018554	-1			no_errors	ENST00000274432	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.955	T	T	95018554	G	T	95018554	3	4	164	1	0	0	0	0	1	0	0	0	15063	1348	47	3	779	3	SPATA9	5	95018554	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	23525103	95018554	85896706	54	41601											
ODZ2	57451	genome.wustl.edu	37	chr5	167420090	167420090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccaggaaggctttcaaGctgaagaagccctccaaata	13	9	8	11	0	2	2	1	1	1	1	4	3	3	3	3	2	2	2	3	2	6	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr5:167420090G>T	ENST00000518659.1	+	5	1128	c.1089G>T	c.(1087-1089)aaG>aaT	p.K363N	TENM2_ENST00000545108.1_Missense_Mutation_p.K363N|TENM2_ENST00000403607.2_Missense_Mutation_p.K196N|TENM2_ENST00000519204.1_Missense_Mutation_p.K242N|TENM2_ENST00000520394.1_Missense_Mutation_p.K172N	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	363	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										AGGCTTTCAAGCTGAAGAAGC	0.567																																																	0													54	57	56					5																	167420090		1894	4118	6012	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1089G>T	5.37:g.167420090G>T	ENSP00000429430:p.Lys363Asn		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.K363N	ENST00000518659.1	37	c.1089		5	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252892	0.39797	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.74	4.87	0.63330	Teneurin intracellular, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	L	0.37630	1.12	0.41657	D	0.989169	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.99;0.99	T	0.05550	-1.0878	10	0.17832	T	0.49	.	14.1841	0.65592	0.0712:0.0:0.9288:0.0	.	363;172;242	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	N	363;363;242;172;196	ENSP00000429430:K363N;ENSP00000438635:K363N;ENSP00000428964:K242N;ENSP00000427874:K172N;ENSP00000384905:K196N	ENSP00000384905:K196N	K	+	3	2	ODZ2	167352668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.189000	0.42621	2.712000	0.92718	0.650000	0.86243	AAG	TENM2	-	pfam_Ten_N	ENSG00000145934		0.567	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	-	0	59	0	G	NM_001122679		167420090	1	tier1	-	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	167420090	G	T	167420090	3	4	164	1	0	0	0	0	1	0	0	0	10874	962	34	3	1107	3	ODZ2	5	167420090	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	72401536	167420090	13495170	55	41602											
B4GALT7	11285	genome.wustl.edu	37	chr5	177035912	177035912	+	Splice_Site	DEL	T	T	-																															cttccttggacctccctagcTtttccgcccctcgggaatca																										TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr5:177035912delT	ENST00000029410.5	+	5	836	c.725delT	c.(724-726)ctt>ct	p.L242fs	RP11-1277A3.1_ENST00000499900.2_RNA	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	242					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	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)			CCTCCCTAGCTTTTCCGCCCC	0.622																																																	0													68	67	68					5																	177035912		2203	4300	6503	SO:0001630	splice_region_variant	0			AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"Beta 4-glycosyltransferases"	930	protein-coding gene	gene with protein product	"galactosyltransferase I"	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.724-1T>-	5.37:g.177035912delT			B3KN39|Q9UHN2	Frame_Shift_Del	DEL	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.F243fs	ENST00000029410.5	37	c.725	CCDS4429.1	5																																																																																			B4GALT7	-	pfam_Galactosyl_T_C	ENSG00000027847		0.622	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT7	HGNC	protein_coding	OTTHUMT00000253421.1		0	35	0	T	NM_007255	Frame_Shift_Del	177035912	1	tier1		no_errors	ENST00000029410	ensembl	human	known	74_37	frame_shift_del	9.38	29	3	DEL	1.000	-	-	177035912	T	-	177035912	8	5	164	1	0	1	0	1	0	0	1	0	1277	1623	56	0	743	0	B4GALT7	5	177035912	Splice_Site	DEL	T	TCGA-VR-A8ER-01A-11D-A36J-09	9615822	177035912	3879348	56	41603											
PECI	10455	genome.wustl.edu	37	chr6	4117631	4117631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcagtaacaagtccttGagcacatgcctctcccgctg	10	10	7	14	1	2	1	1	1	1	0	4	1	3	1	3	0	4	3	3	0	3	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:4117631G>T	ENST00000380118.3	-	9	976	c.940C>A	c.(940-942)Caa>Aaa	p.Q314K	ECI2_ENST00000413766.2_Missense_Mutation_p.Q147K|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000361538.2_Missense_Mutation_p.Q284K|C6orf201_ENST00000430835.2_Intron|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000465828.1_Missense_Mutation_p.Q284K|ECI2_ENST00000380125.2_Missense_Mutation_p.Q284K			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	314	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ACAAGTCCTTGAGCACATGCC	0.398																																																	0													115	119	118					6																	4117631		2203	4300	6503	SO:0001583	missense	0			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.940C>A	6.37:g.4117631G>T	ENSP00000369461:p.Gln314Lys		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core_superfam,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.Q314K	ENST00000380118.3	37	c.940	CCDS43420.2	6	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116166	0.37339	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	6.16	3.22	0.36961	Crotonase, core (1);	0.656621	0.16059	N	0.231578	T	0.34193	0.0889	L	0.43701	1.375	0.24898	N	0.992123	B	0.29136	0.234	B	0.31751	0.135	T	0.15521	-1.0434	10	0.29301	T	0.29	.	4.8139	0.13356	0.0711:0.1342:0.5168:0.2778	.	314	O75521	ECI2_HUMAN	K	314;284;147;284;284	ENSP00000369461:Q314K;ENSP00000369468:Q284K;ENSP00000406969:Q147K;ENSP00000354737:Q284K;ENSP00000420309:Q284K	ENSP00000354737:Q284K	Q	-	1	0	ECI2	4062630	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	3.306000	0.51881	0.890000	0.36211	-0.188000	0.12872	CAA	ECI2	-	pfam_Crotonase_core_superfam	ENSG00000198721		0.398	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ECI2	HGNC	protein_coding	OTTHUMT00000039716.4	-	0	74	0	G	NM_006117		4117631	-1	tier1	-	no_errors	ENST00000380118	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.998	T	T	4117631	G	T	4117631	3	4	164	1	0	0	0	0	1	0	0	0	11755	1299	45	3	252	3	PECI	6	4117631	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09		4117631	166997436	57	41604											
GPLD1	2822	genome.wustl.edu	37	chr6	24448365	24448365	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaagtggtaaacatacctgGcaagaaatggtgatgttagg	15	10	12	4	0	0	2	0	1	0	1	0	2	0	2	1	4	2	3	1	4	8	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:24448365G>T	ENST00000230036.1	-	16	1628	c.1518C>A	c.(1516-1518)tgC>tgA	p.C506*		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	506					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						AACATACCTGGCAAGAAATGG	0.453																																																	0													136	130	132					6																	24448365		2203	4300	6503	SO:0001587	stop_gained	0			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.1518C>A	6.37:g.24448365G>T	ENSP00000230036:p.Cys506*		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Nonsense_Mutation	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.C506*	ENST00000230036.1	37	c.1518	CCDS4553.1	6	.	.	.	.	.	.	.	.	.	.	G	38	6.663908	0.97743	.	.	ENSG00000112293	ENST00000230036	.	.	.	4.91	2.15	0.27550	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-26.8858	8.5142	0.33235	0.3306:0.0:0.6694:0.0	.	.	.	.	X	506	.	ENSP00000230036:C506X	C	-	3	2	GPLD1	24556344	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	3.275000	0.51639	0.219000	0.20840	-0.142000	0.14014	TGC	GPLD1	-	NULL	ENSG00000112293		0.453	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1		0	69	0	G	NM_001503		24448365	-1			no_errors	ENST00000230036	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	T	T	24448365	G	T	24448365	4	4	164	1	0	0	0	0	0	1	0	0	6640	1195	42	3	1044	3	GPLD1	6	24448365	Nonsense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	20330734	24448365	146666702	58	41605											
SCUBE3	222663	genome.wustl.edu	37	chr6	35205712	35205712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaacgggggctgtgacaGtaagtgccatgatgcagcga	12	6	14	9	2	0	2	0	2	0	0	0	3	0	2	1	2	5	3	1	2	3	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:35205712G>A	ENST00000274938.7	+	7	746	c.746G>A	c.(745-747)aGt>aAt	p.S249N	SCUBE3_ENST00000394681.1_Missense_Mutation_p.S265N	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						GGCTGTGACAGTAAGTGCCAT	0.557																																																	0													134	113	120					6																	35205712		2203	4300	6503	SO:0001583	missense	0			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.746G>A	6.37:g.35205712G>A	ENSP00000274938:p.Ser249Asn			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.S265N	ENST00000274938.7	37	c.794	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466242	0.84425	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.96334	-3.98;-3.98	5.38	4.46	0.54185	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.93070	0.7794	N	0.03000	-0.44	0.58432	D	0.999995	D;D	0.69078	0.997;0.993	D;D	0.77557	0.99;0.968	D	0.95348	0.8444	10	0.59425	D	0.04	.	14.8611	0.70382	0.0:0.0:0.8557:0.1443	.	265;249	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	N	265;249	ENSP00000378174:S265N;ENSP00000274938:S249N	ENSP00000274938:S249N	S	+	2	0	SCUBE3	35313690	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.616000	0.74205	2.523000	0.85059	0.491000	0.48974	AGT	SCUBE3	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin	ENSG00000146197		0.557	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	-	0	84	0	G	NM_152753		35205712	1	tier1	-	no_errors	ENST00000394681	ensembl	human	known	74_37	missense	33.85	43	22	SNP	1.000	A	A	35205712	G	A	35205712	3	1	164	1	0	0	0	0	1	0	0	0	13991	1029	36	3	772	3	SCUBE3	6	35205712	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	10757347	35205712	135909355	59	41606											
FKBP5	2289	genome.wustl.edu	37	chr6	35547893	35547893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagaaaggcagcaaggaGaaatgattcagaagctttcg	15	8	12	6	1	2	4	2	1	0	3	3	5	2	4	0	2	2	4	0	2	4	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:35547893G>T	ENST00000539068.1	-	9	1148	c.946C>A	c.(946-948)Ctc>Atc	p.L316I	FKBP5_ENST00000536438.1_Missense_Mutation_p.L316I|FKBP5_ENST00000540787.1_Missense_Mutation_p.L137I|FKBP5_ENST00000357266.4_Missense_Mutation_p.L316I	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	316					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GCAGCAAGGAGAAATGATTCA	0.438																																																	0													185	167	173					6																	35547893		2203	4300	6503	SO:0001583	missense	0			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"Tetratricopeptide (TTC) repeat domain containing"	3721	protein-coding gene	gene with protein product		602623	"FK506-binding protein 5"			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.946C>A	6.37:g.35547893G>T	ENSP00000441205:p.Leu316Ile		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.L316I	ENST00000539068.1	37	c.946	CCDS4808.1	6	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697349	0.30142	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.93	5.93	0.95920	Elongated TPR repeat-containing domain (1);	0.092126	0.45606	D	0.000346	T	0.51126	0.1656	L	0.33485	1.01	0.80722	D	1	B	0.26577	0.153	B	0.30782	0.12	T	0.53592	-0.8417	10	0.38643	T	0.18	-13.6099	9.4175	0.38530	0.0713:0.0:0.7847:0.1441	.	316	Q13451	FKBP5_HUMAN	I	316;316;316;316;137;279	ENSP00000444810:L316I;ENSP00000349811:L316I;ENSP00000441205:L316I;ENSP00000445412:L137I	ENSP00000338160:L316I	L	-	1	0	FKBP5	35655871	0.581000	0.26741	0.996000	0.52242	0.343000	0.28985	1.524000	0.35942	2.798000	0.96311	0.655000	0.94253	CTC	FKBP5	-	NULL	ENSG00000096060		0.438	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP5	HGNC	protein_coding	OTTHUMT00000040309.2	-	0	64	0	G			35547893	-1	tier1	-	no_errors	ENST00000357266	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	35547893	G	T	35547893	3	4	164	1	0	0	0	0	1	0	0	0	5933	942	33	3	439	3	FKBP5	6	35547893	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	342181	35547893	135567174	60	41607											
GUCA1B	2979	genome.wustl.edu	37	chr6	42153445	42153445	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctcatccaccaggaggaAgatcctgtccacgacctcct	10	9	7	15	1	1	1	1	0	1	1	6	4	5	3	6	2	0	0	6	2	1	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:42153445A>G	ENST00000230361.3	-	3	543	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	150	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|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)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			ACCAGGAGGAAGATCCTGTCC	0.572																																																	0													114	86	96					6																	42153445		2203	4300	6503	SO:0001583	missense	0			AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"EF-hand domain containing"	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.448T>C	6.37:g.42153445A>G	ENSP00000230361:p.Phe150Leu		Q9NU15	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.F150L	ENST00000230361.3	37	c.448	CCDS4865.1	6	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899359	0.91962	.	.	ENSG00000112599	ENST00000230361;ENST00000372949	T	0.75821	-0.97	4.96	4.96	0.65561	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	N	0.21240	0.645	0.80722	D	1	P	0.36171	0.541	P	0.50490	0.642	T	0.73007	-0.4118	10	0.72032	D	0.01	.	13.241	0.59997	1.0:0.0:0.0:0.0	.	150	Q9UMX6	GUC1B_HUMAN	L	150;142	ENSP00000230361:F150L	ENSP00000230361:F150L	F	-	1	0	GUCA1B	42261423	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.759000	0.91667	2.165000	0.68154	0.528000	0.53228	TTC	GUCA1B	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000112599		0.572	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA1B	HGNC	protein_coding	OTTHUMT00000040550.1	-	0	35	0	A	NM_002098		42153445	-1	tier1	-	no_errors	ENST00000230361	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	G	G	42153445	A	G	42153445	3	3	164	1	0	0	0	0	1	0	0	0	6916	72	3	4	162	4	GUCA1B	6	42153445	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	6605552	42153445	128961622	61	41608											
RUNX2	860	genome.wustl.edu	37	chr6	45514591	45514591	+	Missense_Mutation	SNP	A	A	T	1	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	agaactgggccctttttcagAccccaggcagttcccaagca	10	8	9	14	0	1	2	1	0	0	2	2	2	2	2	4	2	2	3	4	2	2	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:45514591A>T	ENST00000371438.1	+	8	1473	c.1115A>T	c.(1114-1116)gAc>gTc	p.D372V	RUNX2_ENST00000352853.5_Missense_Mutation_p.D440V|RUNX2_ENST00000359524.5_Missense_Mutation_p.D358V|RUNX2_ENST00000465038.2_Missense_Mutation_p.D372V|RUNX2_ENST00000371436.6_Missense_Mutation_p.D350V|RUNX2_ENST00000371432.3_Missense_Mutation_p.D336V|RUNX2_ENST00000541979.1_Missense_Mutation_p.D418V|RUNX2_ENST00000576263.1_Intron	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	372	Interaction with KAT6A. {ECO:0000250}.|Pro/Ser/Thr-rich.				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						CCTTTTTCAGACCCCAGGCAG	0.438																																																	0													92	93	93					6																	45514591		2203	4300	6503	SO:0001583	missense	0			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.1115A>T	6.37:g.45514591A>T	ENSP00000360493:p.Asp372Val		O14614|O14615|O95181	Missense_Mutation	SNP	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	p.D440V	ENST00000371438.1	37	c.1319	CCDS43467.2	6	.	.	.	.	.	.	.	.	.	.	A	14.48	2.547964	0.45383	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.77	4.62	0.57501	.	0.052883	0.64402	D	0.000001	T	0.79673	0.4486	M	0.74467	2.265	0.80722	D	1	D;D;D	0.76494	0.975;0.999;0.999	P;D;D	0.78314	0.743;0.979;0.991	T	0.80233	-0.1467	10	0.41790	T	0.15	-9.0114	11.7488	0.51837	0.9314:0.0:0.0686:0.0	.	418;372;358	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	V	372;440;418;372;350;358;336	ENSP00000420707:D372V;ENSP00000319087:D440V;ENSP00000446290:D418V;ENSP00000360493:D372V;ENSP00000360491:D350V;ENSP00000352514:D358V;ENSP00000360486:D336V	ENSP00000319087:D440V	D	+	2	0	RUNX2	45622569	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.875000	0.63072	1.128000	0.42052	0.533000	0.62120	GAC	RUNX2	-	NULL	ENSG00000124813		0.438	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	-	0	32	0	A	NM_004348		45514591	1	tier1	-	no_errors	ENST00000352853	ensembl	human	known	74_37	missense	32.56	29	14	SNP	1.000	T	T	45514591	A	T	45514591	3	4	164	1	0	0	0	0	1	0	0	0	13793	275	10	5	1161	5	RUNX2	6	45514591	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	3361146	45514591	125600476	62	41609											
ENPP4	22875	genome.wustl.edu	37	chr6	46107802	46107802	+	Missense_Mutation	SNP	A	A	G	1	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	caactcctcagtgtcatttgAggaaagactaaataatatta	16	12	6	7	0	2	2	2	1	0	1	3	3	3	3	1	1	1	0	1	1	7	5			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:46107802A>G	ENST00000321037.4	+	2	712	c.482A>G	c.(481-483)gAg>gGg	p.E161G		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	161					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GTGTCATTTGAGGAAAGACTA	0.408																																																	0													133	130	131					6																	46107802		2203	4300	6503	SO:0001583	missense	0			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.482A>G	6.37:g.46107802A>G	ENSP00000318066:p.Glu161Gly		A8K5G1|Q7L2N1	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.E161G	ENST00000321037.4	37	c.482	CCDS34468.1	6	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632238	0.29068	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.73152	-0.72	5.97	-0.564	0.11774	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.920925	0.09585	N	0.782327	T	0.39784	0.1091	L	0.48935	1.535	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40757	-0.9546	10	0.52906	T	0.07	0.2926	6.6636	0.23029	0.4719:0.3599:0.1682:0.0	.	161	Q9Y6X5	ENPP4_HUMAN	G	161	ENSP00000318066:E161G	ENSP00000318066:E161G	E	+	2	0	ENPP4	46215761	0.087000	0.21565	0.561000	0.28357	0.840000	0.47671	0.698000	0.25571	-0.299000	0.08909	-0.313000	0.08912	GAG	ENPP4	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000001561		0.408	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP4	HGNC	protein_coding	OTTHUMT00000040777.2	-	0	25	0	A			46107802	1	tier1	-	no_errors	ENST00000321037	ensembl	human	known	74_37	missense	18.52	22	5	SNP	0.030	G	G	46107802	A	G	46107802	3	3	164	1	0	0	0	0	1	0	0	0	5148	304	11	4	484	4	ENPP4	6	46107802	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	593211	46107802	125007265	63	41610											
C6orf221	154288	genome.wustl.edu	37	chr6	74072967	74072967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaagatgatcatgaacctgGctgactatcaccgccagctc	11	9	8	13	1	3	4	3	3	0	1	4	4	3	4	3	1	2	2	3	1	3	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:74072967G>A	ENST00000370367.3	+	2	372	c.319G>A	c.(319-321)Gct>Act	p.A107T		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	107							RNA binding (GO:0003723)										CATGAACCTGGCTGACTATCA	0.552																																																	0													96	91	93					6																	74072967		2203	4300	6503	SO:0001583	missense	0			AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.319G>A	6.37:g.74072967G>A	ENSP00000359392:p.Ala107Thr		B2RNW7	Missense_Mutation	SNP	NULL	p.A107T	ENST00000370367.3	37	c.319	CCDS34484.1	6	.	.	.	.	.	.	.	.	.	.	G	15.55	2.868245	0.51588	.	.	ENSG00000203908	ENST00000370367	T	0.42513	0.97	3.52	2.65	0.31530	.	0.162920	0.29348	N	0.012416	T	0.44746	0.1308	M	0.72118	2.19	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.19257	-1.0311	10	0.66056	D	0.02	-17.3412	6.8679	0.24104	0.1259:0.0:0.8741:0.0	.	107	Q587J8	ECAT1_HUMAN	T	107	ENSP00000359392:A107T	ENSP00000359392:A107T	A	+	1	0	C6orf221	74129688	0.995000	0.38212	0.046000	0.18839	0.011000	0.07611	2.481000	0.45215	1.072000	0.40860	-0.136000	0.14681	GCT	KHDC3L	-	NULL	ENSG00000203908		0.552	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDC3L	HGNC	protein_coding	OTTHUMT00000041202.3	-	0	44	0	G	NM_001017361		74072967	1	tier1	-	no_errors	ENST00000370367	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.061	A	A	74072967	G	A	74072967	3	1	164	1	0	0	0	0	1	0	0	0	2362	1203	42	3	325	3	C6orf221	6	74072967	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	27965165	74072967	97042100	64	41611											
IMPG1	3617	genome.wustl.edu	37	chr6	76660728	76660728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgccttgatcagtcaGagagaagatgcttgatgcca	10	11	13	7	0	2	5	2	2	0	3	2	6	2	5	2	1	3	1	2	1	1	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:76660728G>T	ENST00000369950.3	-	13	1564	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGATCAGTCAGAGAGAAGATG	0.498																																					Pancreas(37;839 1141 2599 26037)												0													153	149	151					6																	76660728		2203	4300	6503	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1375C>A	6.37:g.76660728G>T	ENSP00000358966:p.Leu459Met			Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.L459M	ENST00000369950.3	37	c.1375	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240643	0.22711	.	.	ENSG00000112706	ENST00000369950	T	0.21191	2.02	5.74	3.97	0.46021	.	0.584779	0.15520	N	0.258112	T	0.13970	0.0338	L	0.53249	1.67	0.09310	N	0.999995	D	0.53151	0.958	P	0.51016	0.656	T	0.07635	-1.0762	10	0.36615	T	0.2	.	8.9002	0.35490	0.2268:0.0:0.7732:0.0	.	459	Q17R60	IMPG1_HUMAN	M	459	ENSP00000358966:L459M	ENSP00000358966:L459M	L	-	1	2	IMPG1	76717448	0.409000	0.25368	0.731000	0.30826	0.013000	0.08279	2.824000	0.48088	0.784000	0.33661	-0.142000	0.14014	CTG	IMPG1	-	NULL	ENSG00000112706		0.498	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	-	0	53	0	G	NM_001563		76660728	-1	tier1	-	no_errors	ENST00000369950	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.007	T	T	76660728	G	T	76660728	3	4	164	1	0	0	0	0	1	0	0	0	7755	933	33	3	1038	3	IMPG1	6	76660728	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	2587761	76660728	94454339	65	41612											
BCKDHB	594	genome.wustl.edu	37	chr6	80877472	80877472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggaattgcggtcactggaGctactgccattgcggaaatt	9	11	12	9	3	1	0	1	0	0	0	2	3	1	3	1	4	5	1	1	4	3	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:80877472G>T	ENST00000320393.6	+	4	468	c.421G>T	c.(421-423)Gct>Tct	p.A141S	BCKDHB_ENST00000545529.1_Missense_Mutation_p.A141S|BCKDHB_ENST00000369760.4_Missense_Mutation_p.A141S|BCKDHB_ENST00000356489.5_Missense_Mutation_p.A141S	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	141					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GGTCACTGGAGCTACTGCCAT	0.343																																																	0													101	100	100					6																	80877472		2203	4300	6503	SO:0001583	missense	0			M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"maple syrup urine disease"	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.421G>T	6.37:g.80877472G>T	ENSP00000318351:p.Ala141Ser		Q5T2J3|Q9BQL0	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.A141S	ENST00000320393.6	37	c.421	CCDS4994.1	6	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544657	0.45280	.	.	ENSG00000083123	ENST00000369760;ENST00000320393;ENST00000356489;ENST00000545529;ENST00000541767	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88	4.81	4.81	0.61882	Transketolase-like, pyrimidine-binding domain (2);	0.047315	0.85682	D	0.000000	T	0.81978	0.4937	N	0.25380	0.74	0.80722	D	1	B	0.15930	0.015	B	0.19946	0.027	T	0.77560	-0.2542	10	0.29301	T	0.29	-22.4018	17.2392	0.87008	0.0:0.0:1.0:0.0	.	141	P21953	ODBB_HUMAN	S	141;141;141;141;71	ENSP00000358775:A141S;ENSP00000318351:A141S;ENSP00000348880:A141S;ENSP00000443564:A141S	ENSP00000318351:A141S	A	+	1	0	BCKDHB	80934191	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.458000	0.97634	2.377000	0.81083	0.585000	0.79938	GCT	BCKDHB	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd	ENSG00000083123		0.343	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHB	HGNC	protein_coding	OTTHUMT00000043911.2	-	0	46	0	G	NM_000056		80877472	1	tier1	-	no_errors	ENST00000320393	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	80877472	G	T	80877472	3	4	164	1	0	0	0	0	1	0	0	0	1361	971	34	3	435	3	BCKDHB	6	80877472	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	4216744	80877472	90237595	66	41613											
IBTK	25998	genome.wustl.edu	37	chr6	82950160	82950160	+	Missense_Mutation	SNP	A	A	G	1	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	ggacatccaaagcatgcttcAgggatcgacactttgatgtg	11	10	11	9	1	1	1	1	1	0	0	3	4	2	3	1	2	2	2	1	2	1	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:82950160A>G	ENST00000306270.7	-	2	593	c.44T>C	c.(43-45)cTg>cCg	p.L15P	IBTK_ENST00000510291.1_Missense_Mutation_p.L15P|IBTK_ENST00000503631.1_Missense_Mutation_p.L15P	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	15					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)	p.L15R(1)		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)		AGCATGCTTCAGGGATCGACA	0.403																																																	1	Substitution - Missense(1)	lung(1)											141	135	137					6																	82950160		2203	4300	6503	SO:0001583	missense	0			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.44T>C	6.37:g.82950160A>G	ENSP00000305721:p.Leu15Pro		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.L15P	ENST00000306270.7	37	c.44	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	A	13.12	2.143769	0.37825	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.28255	1.92;1.62;1.93	5.33	4.17	0.49024	.	0.364206	0.29515	N	0.011935	T	0.23572	0.0570	M	0.63428	1.95	0.80722	D	1	P;P;D;P	0.54397	0.855;0.944;0.966;0.944	B;P;P;P	0.50708	0.36;0.462;0.648;0.462	T	0.03524	-1.1028	10	0.33141	T	0.24	-6.0603	6.7375	0.23417	0.7884:0.0:0.0747:0.1369	.	15;15;15;15	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	P	15	ENSP00000305721:L15P;ENSP00000422762:L15P;ENSP00000426405:L15P	ENSP00000305721:L15P	L	-	2	0	IBTK	83006879	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.250000	0.43178	2.144000	0.66660	0.459000	0.35465	CTG	IBTK	-	NULL	ENSG00000005700		0.403	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2		0	46	0	A	NM_015525		82950160	-1			no_errors	ENST00000306270	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.949	G	G	82950160	A	G	82950160	3	3	164	1	0	0	0	0	1	0	0	0	7503	188	7	4	4129	4	IBTK	6	82950160	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	2072688	82950160	88164907	67	41614											
L3MBTL3	84456	genome.wustl.edu	37	chr6	130415449	130415449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcagaacatggtggatGctcaaccccgggatgtaaag	12	8	12	9	1	2	1	2	0	0	1	2	3	2	3	2	3	4	3	2	3	4	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:130415449G>T	ENST00000529410.1	+	20	2152	c.1673G>T	c.(1672-1674)tGc>tTc	p.C558F	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.C533F|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.C558F|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.C533F|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.C533F|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.C558F			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	558					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)		CATGGTGGATGCTCAACCCCG	0.448																																																	0													82	80	80					6																	130415449		2203	4300	6503	SO:0001583	missense	0			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.1673G>T	6.37:g.130415449G>T	ENSP00000431962:p.Cys558Phe		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.C558F	ENST00000529410.1	37	c.1673	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226662	0.79576	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.28255	1.62;1.66;1.62;1.66;1.66;1.62	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.61337	-0.7083	10	0.62326	D	0.03	.	16.9999	0.86378	0.0:0.0:1.0:0.0	.	533;558	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	F	558;533;558;533;533;558	ENSP00000431962:C558F;ENSP00000437185:C533F;ENSP00000354526:C558F;ENSP00000357121:C533F;ENSP00000436706:C533F;ENSP00000357118:C558F	ENSP00000354526:C558F	C	+	2	0	L3MBTL3	130457142	1.000000	0.71417	0.970000	0.41538	0.840000	0.47671	7.816000	0.86201	2.751000	0.94390	0.650000	0.86243	TGC	L3MBTL3	-	NULL	ENSG00000198945		0.448	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	-	0	50	0	G	XM_027074		130415449	1	tier1	-	no_errors	ENST00000361794	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	130415449	G	T	130415449	3	4	164	1	0	0	0	0	1	0	0	0	8621	1319	46	3	1735	3	L3MBTL3	6	130415449	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	47465289	130415449	40699618	68	41615											
PEX3	8504	genome.wustl.edu	37	chr6	143800301	143800301	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttctttcgacctactGaacaggacctgcaacatggt	10	11	9	11	1	1	2	0	2	1	0	2	4	1	3	2	2	4	2	2	2	3	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:143800301G>T	ENST00000367591.4	+	10	970	c.907G>T	c.(907-909)Gaa>Taa	p.E303*		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	303					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)		TCGACCTACTGAACAGGACCT	0.338																																																	0													96	93	94					6																	143800301		2203	4300	6503	SO:0001587	stop_gained	0			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.907G>T	6.37:g.143800301G>T	ENSP00000356563:p.Glu303*		Q6FGP5	Nonsense_Mutation	SNP	pfam_Peroxin-3	p.E303*	ENST00000367591.4	37	c.907	CCDS5199.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.399395	0.97537	.	.	ENSG00000034693	ENST00000367591	.	.	.	5.65	5.65	0.86999	.	0.279156	0.40908	D	0.000992	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-6.5709	20.1057	0.97893	0.0:0.0:1.0:0.0	.	.	.	.	X	303	.	ENSP00000356563:E303X	E	+	1	0	PEX3	143841994	1.000000	0.71417	0.886000	0.34754	0.978000	0.69477	4.776000	0.62354	2.827000	0.97445	0.650000	0.86243	GAA	PEX3	-	pfam_Peroxin-3	ENSG00000034693		0.338	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX3	HGNC	protein_coding	OTTHUMT00000042525.1	-	0	57	0	G			143800301	1	tier1	-	no_errors	ENST00000367591	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	1.000	T	T	143800301	G	T	143800301	4	4	164	1	0	0	0	0	0	1	0	0	11786	1291	45	3	945	3	PEX3	6	143800301	Nonsense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	13384852	143800301	27314766	69	41616											
WTAP	9589	genome.wustl.edu	37	chr6	160176201	160176201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcaggcctctgccccaaGtaccagcaggactacagctt	9	8	9	15	0	2	0	1	0	2	0	3	1	2	1	4	2	5	3	4	2	3	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr6:160176201G>T	ENST00000358372.4	+	8	2506	c.749G>T	c.(748-750)aGt>aTt	p.S250I	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	250					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TCTGCCCCAAGTACCAGCAGG	0.537																																																	0													54	47	49					6																	160176201		2203	4300	6503	SO:0001583	missense	0			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.749G>T	6.37:g.160176201G>T	ENSP00000351141:p.Ser250Ile		Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	NULL	p.S250I	ENST00000358372.4	37	c.749	CCDS5266.1	6	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523527	0.44866	.	.	ENSG00000146457	ENST00000358372	T	0.43688	0.94	6.17	6.17	0.99709	.	0.302821	0.41194	D	0.000926	T	0.24314	0.0589	N	0.14661	0.345	0.80722	D	1	P;B	0.40875	0.731;0.115	B;B	0.44224	0.444;0.1	T	0.03193	-1.1062	10	0.36615	T	0.2	-5.9215	19.0599	0.93085	0.0:0.0:1.0:0.0	.	250;250	A8K489;Q15007	.;FL2D_HUMAN	I	250	ENSP00000351141:S250I	ENSP00000351141:S250I	S	+	2	0	WTAP	160096191	0.999000	0.42202	0.074000	0.20217	0.936000	0.57629	6.181000	0.71988	2.941000	0.99782	0.655000	0.94253	AGT	WTAP	-	NULL	ENSG00000146457		0.537	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTAP	HGNC	protein_coding	OTTHUMT00000042905.1		0	25	0	G	NM_152857		160176201	1			no_errors	ENST00000358372	ensembl	human	known	74_37	missense	7.14	25	2	SNP	0.516	T	T	160176201	G	T	160176201	3	4	164	1	0	0	0	0	1	0	0	0	17458	1029	36	3	779	3	WTAP	6	160176201	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	16375900	160176201	10938866	70	41617											
RBAK	57786	genome.wustl.edu	37	chr7	5103473	5103473	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaaacaagccttgttcCttcaagcataatagctcata	14	11	6	10	0	2	0	2	0	0	0	3	1	3	1	2	1	4	3	2	1	6	6			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr7:5103473C>A	ENST00000353796.3	+	6	710	c.386C>A	c.(385-387)cCt>cAt	p.P129H	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.P129H	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	129					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)		AGCCTTGTTCCTTCAAGCATA	0.353																																																	0													109	104	106					7																	5103473		2203	4300	6503	SO:0001583	missense	0			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.386C>A	7.37:g.5103473C>A	ENSP00000275423:p.Pro129His		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P129H	ENST00000353796.3	37	c.386	CCDS5337.1	7	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263457	0.23051	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.07216	3.21;3.21	3.91	3.91	0.45181	.	0.313457	0.23439	N	0.048178	T	0.06050	0.0157	N	0.11651	0.15	0.28496	N	0.914222	D	0.56287	0.975	P	0.46543	0.52	T	0.37244	-0.9714	8	.	.	.	.	11.5809	0.50891	0.0:1.0:0.0:0.0	.	129	Q9NYW8	RBAK_HUMAN	H	129	ENSP00000275423:P129H;ENSP00000380120:P129H	.	P	+	2	0	RBAK	5069999	0.959000	0.32827	0.110000	0.21437	0.867000	0.49689	0.750000	0.26334	2.181000	0.69327	0.555000	0.69702	CCT	RBAK	-	NULL	ENSG00000146587		0.353	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	HGNC	protein_coding	OTTHUMT00000241640.2	-	0	72	0	C	NM_021163		5103473	1	tier1	-	no_errors	ENST00000353796	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.016	A	A	5103473	C	A	5103473	3	1	164	1	0	0	0	0	1	0	0	0	13145	681	24	3	400	3	RBAK	7	5103473	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09		5103473	154035190	71	41618											
NPC1L1	29881	genome.wustl.edu	37	chr7	44573140	44573140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcaaaggtccgcacagctgGcatgggggtcagggcccctg	7	5	17	12	1	1	0	1	0	0	0	2	0	2	0	3	6	1	4	3	6	1	0			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr7:44573140G>T	ENST00000289547.4	-	8	2354	c.2299C>A	c.(2299-2301)Cca>Aca	p.P767T	NPC1L1_ENST00000546276.1_Missense_Mutation_p.P767T|NPC1L1_ENST00000423141.1_3'UTR|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P767T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	767	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				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)	CGCACAGCTGGCATGGGGGTC	0.627																																																	0													58	59	58					7																	44573140		2203	4300	6503	SO:0001583	missense	0				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.2299C>A	7.37:g.44573140G>T	ENSP00000289547:p.Pro767Thr		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.P767T	ENST00000289547.4	37	c.2299	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	g	24.2	4.500334	0.85176	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.96830	-4.14;-4.14;-4.14	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.98448	0.9483	M	0.92784	3.345	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;0.993	D;D;D	0.78314	0.991;0.991;0.936	D	0.99659	1.0993	10	0.87932	D	0	-14.2544	15.2998	0.73940	0.0:0.0:1.0:0.0	.	767;767;767	B7ZLE6;Q17RV5;D3DVK9	.;.;.	T	767	ENSP00000289547:P767T;ENSP00000370552:P767T;ENSP00000438033:P767T	ENSP00000289547:P767T	P	-	1	0	NPC1L1	44539665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.079000	0.94032	2.197000	0.70478	0.511000	0.50034	CCA	NPC1L1	-	pfam_Patched,pfscan_SSD	ENSG00000015520		0.627	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1		0	24	0	G	NM_013389		44573140	-1			no_errors	ENST00000289547	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	44573140	G	T	44573140	3	4	164	1	0	0	0	0	1	0	0	0	10610	1203	42	3	1832	3	NPC1L1	7	44573140	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	39469667	44573140	114565523	72	41619											
SRRM3	222183	genome.wustl.edu	37	chr7	75890892	75890892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctgggtcccggaggaagagaCggcacaggtgagcggcgctt	8	5	18	10	4	0	2	0	1	0	1	1	5	1	4	1	6	1	2	1	6	1	1	rs563897360		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr7:75890892C>T	ENST00000326382.8	+	8	874	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	SRRM3_ENST00000388802.4_Missense_Mutation_p.R223W	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	223	Arg-rich.|Lys-rich.|Ser-rich.									NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GAGGAAGAGACGGCACAGGTG	0.602													C|||	1	0.000199681	0	0	5008	,	,		16602	0		0	False		,,,				2504	0.001																0													47	48	48					7																	75890892		1568	3582	5150	SO:0001583	missense	0			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.667C>T	7.37:g.75890892C>T	ENSP00000325298:p.Arg223Trp		A6ND75	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R223W	ENST00000326382.8	37	c.667		7	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698364	0.48307	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	T	0.02579	4.24	4.08	2.03	0.26663	.	0.481828	0.16941	N	0.193300	T	0.06325	0.0163	M	0.64404	1.975	0.36657	D	0.877711	D	0.76494	0.999	P	0.50082	0.63	T	0.38200	-0.9672	10	0.72032	D	0.01	-14.0555	9.0157	0.36168	0.4949:0.5051:0.0:0.0	.	223	A6NNA2	SRRM3_HUMAN	W	223	ENSP00000373454:R223W	ENSP00000325298:R223W	R	+	1	2	SRRM3	75728828	0.975000	0.34042	1.000000	0.80357	0.974000	0.67602	0.002000	0.13061	1.032000	0.39892	0.655000	0.94253	CGG	SRRM3	-	NULL	ENSG00000177679		0.602	SRRM3-001	KNOWN	basic	protein_coding	SRRM3	HGNC	protein_coding	OTTHUMT00000252889.2	-	0	51	0	C	NM_001110199		75890892	1	tier1	-	no_errors	ENST00000388802	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	75890892	C	T	75890892	3	4	164	1	0	0	0	0	1	0	0	0	15217	527	19	1	693	1	SRRM3	7	75890892	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	31317752	75890892	83247771	73	41620											
TRRAP	8295	genome.wustl.edu	37	chr7	98579513	98579513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctggtggagatggccaGcagcctggccatccgcgagt	6	6	16	13	3	0	1	0	0	0	1	1	3	1	1	5	4	2	1	5	4	0	0			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr7:98579513G>A	ENST00000359863.4	+	58	8944	c.8735G>A	c.(8734-8736)aGc>aAc	p.S2912N	TRRAP_ENST00000355540.3_Missense_Mutation_p.S2894N|TRRAP_ENST00000446306.3_Missense_Mutation_p.S2894N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2912	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)			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)			GAGATGGCCAGCAGCCTGGCC	0.667																																																	0													16	16	16					7																	98579513		2194	4286	6480	SO:0001583	missense	0			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.8735G>A	7.37:g.98579513G>A	ENSP00000352925:p.Ser2912Asn		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S2912N	ENST00000359863.4	37	c.8735	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.004842|5.004842	0.93287|0.93287	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.69435	.|-0.4;-0.4	5.46|5.46	5.46|5.46	0.80206|0.80206	.|PIK-related kinase (1);PIK-related kinase, FAT (1);	.|0.098116	.|0.64402	.|D	.|0.000001	T|T	0.80706|0.80706	0.4674|0.4674	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.75020	.|0.982;0.985;0.985	T|T	0.81491|0.81491	-0.0909|-0.0909	5|10	.|0.62326	.|D	.|0.03	.|.	19.3216|19.3216	0.94243|0.94243	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2894;2633;2912	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	T|N	2634|2912;2894;2893	.|ENSP00000352925:S2912N;ENSP00000347733:S2894N	.|ENSP00000347733:S2894N	A|S	+|+	1|2	0|0	TRRAP|TRRAP	98417449|98417449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.515000|7.515000	0.81761|0.81761	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	GCA|AGC	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000196367		0.667	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	26	0	G	NM_003496		98579513	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	A	A	98579513	G	A	98579513	3	1	164	1	0	0	0	0	1	0	0	0	16649	971	34	3	8903	3	TRRAP	7	98579513	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	22688621	98579513	60559150	74	41621											
PILRB	29990	genome.wustl.edu	37	chr7	99956495	99956495	+	Missense_Mutation	SNP	A	A	G	1	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	tccacgggcagtccttctacAgcacaaggccgccttccatt	8	9	8	16	2	1	0	0	0	1	0	4	0	4	0	5	2	2	2	5	2	2	4	rs200935118		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr7:99956495A>G	ENST00000452089.1	+	7	1306	c.247A>G	c.(247-249)Agc>Ggc	p.S83G	PILRB_ENST00000448382.1_Intron|PILRB_ENST00000609309.1_Missense_Mutation_p.S83G|PILRB_ENST00000610247.1_Missense_Mutation_p.S83G|PILRB_ENST00000444073.1_Missense_Mutation_p.S83G|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	83	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)					GTCCTTCTACAGCACAAGGCC	0.542																																																	0													115	117	116					7																	99956495		2203	4300	6503	SO:0001583	missense	0			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.247A>G	7.37:g.99956495A>G	ENSP00000391748:p.Ser83Gly		Q69YF9|Q9HBS0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S83G	ENST00000452089.1	37	c.247	CCDS43622.1	7	.	.	.	.	.	.	.	.	.	.	A	9.754	1.168331	0.21621	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	2.48	-0.577	0.11727	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.736452	0.12125	N	0.497291	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	P	0.34864	0.473	B	0.32342	0.144	T	0.34700	-0.9818	9	.	.	.	.	6.2897	0.21053	0.4677:0.5323:0.0:0.0	.	83	Q9UKJ0	PILRB_HUMAN	G	83;83;83;83;83;83;83;83;188;83	ENSP00000311153:S83G;ENSP00000391748:S83G;ENSP00000411261:S83G;ENSP00000403757:S83G;ENSP00000404321:S83G;ENSP00000389856:S83G;ENSP00000410764:S83G;ENSP00000408425:S83G	.	S	+	1	0	PILRB	99794431	0.016000	0.18221	0.060000	0.19600	0.003000	0.03518	0.696000	0.25541	0.156000	0.19299	-0.439000	0.05793	AGC	PILRB	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000121716		0.542	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding	OTTHUMT00000339923.2		0	46	0	A	NM_178238		99956495	1			no_errors	ENST00000444073	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.026	G	G	99956495	A	G	99956495	3	3	164	1	0	0	0	0	1	0	0	0	11965	188	7	4	253	4	PILRB	7	99956495	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	1376982	99956495	59182168	75	41622											
CUX1	1523	genome.wustl.edu	37	chr7	101844825	101844825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaagcttctgtccacctcgCccatgcccaccgtgtccagc	6	8	7	20	2	1	0	0	0	1	0	4	0	3	0	7	0	3	1	7	0	1	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr7:101844825C>T	ENST00000292535.7	+	18	2286	c.2248C>T	c.(2248-2250)Ccc>Tcc	p.P750S	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.P761S|CUX1_ENST00000549414.2_Missense_Mutation_p.P728S|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P592S|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.P694S|CUX1_ENST00000546411.2_Missense_Mutation_p.P648S	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	750					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						GTCCACCTCGCCCATGCCCAC	0.657																																																	0													133	138	136					7																	101844825		2203	4300	6503	SO:0001583	missense	0			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.2248C>T	7.37:g.101844825C>T	ENSP00000292535:p.Pro750Ser		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.P761S	ENST00000292535.7	37	c.2281	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	C	9.700	1.154287	0.21371	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60797	0.23;0.21;0.21;0.18;0.21;0.16	5.44	4.57	0.56435	.	0.276343	0.35677	N	0.003043	T	0.47021	0.1423	L	0.45581	1.43	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.36672	-0.9738	10	0.25751	T	0.34	-15.6025	9.1618	0.37028	0.0:0.655:0.2622:0.0828	.	750;761	P39880;P39880-3	CUX1_HUMAN;.	S	761;750;728;694;648;592	ENSP00000353401:P761S;ENSP00000292535:P750S;ENSP00000446630:P728S;ENSP00000447373:P694S;ENSP00000450125:P648S;ENSP00000451558:P592S	ENSP00000292535:P750S	P	+	1	0	CUX1	101631545	1.000000	0.71417	0.740000	0.30986	0.563000	0.35712	3.847000	0.55895	1.308000	0.44962	-0.140000	0.14226	CCC	CUX1	-	NULL	ENSG00000257923		0.657	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	-	0	43	0	C	NM_001913		101844825	1	tier1	-	no_errors	ENST00000360264	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.466	T	T	101844825	C	T	101844825	3	4	164	1	0	0	0	0	1	0	0	0	4073	739	26	3	2385	3	CUX1	7	101844825	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	1888330	101844825	57293838	76	41623											
CNPY1	285888	genome.wustl.edu	37	chr7	155301672	155301672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtctcctttcctaggagCgaatctcttgaaagttctct	7	17	7	10	1	3	1	0	1	3	0	7	3	4	2	2	1	1	1	2	1	3	5			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr7:155301672C>A	ENST00000321736.5	-	2	223	c.61G>T	c.(61-63)Gct>Tct	p.A21S	AC008060.5_ENST00000415333.1_RNA|CNPY1_ENST00000406197.1_Missense_Mutation_p.A21S	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	21								p.A21T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCCTAGGAGCGAATCTCTTG	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											79	77	78					7																	155301672		1807	4076	5883	SO:0001583	missense	0				CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"canopy 1 homolog (zebrafish)"			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.61G>T	7.37:g.155301672C>A	ENSP00000317439:p.Ala21Ser		A6NGX3	Missense_Mutation	SNP	pfam_DUF3456	p.A21S	ENST00000321736.5	37	c.61	CCDS43684.1	7	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648637	0.67358	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.33865	1.39;1.39	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	.	.	.	0.41089	D	0.985587	D	0.67145	0.996	D	0.66979	0.948	T	0.61705	-0.7008	9	0.66056	D	0.02	-18.8207	11.9379	0.52884	0.0:0.9084:0.0:0.0916	.	21	Q3B7I2	CNPY1_HUMAN	S	21	ENSP00000384514:A21S;ENSP00000317439:A21S	ENSP00000317439:A21S	A	-	1	0	CNPY1	154994433	1.000000	0.71417	0.641000	0.29422	0.676000	0.39594	3.272000	0.51616	2.240000	0.73641	0.557000	0.71058	GCT	CNPY1	-	pfam_DUF3456	ENSG00000146910		0.403	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CNPY1	HGNC	protein_coding	OTTHUMT00000322335.1		0	40	0	C	XM_001129537		155301672	-1			no_errors	ENST00000321736	ensembl	human	putative	74_37	missense	5.56	34	2	SNP	0.995	A	A	155301672	C	A	155301672	3	1	164	1	0	0	0	0	1	0	0	0	3634	768	27	2	229	2	CNPY1	7	155301672	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	53456847	155301672	3836991	77	41624											
PXDNL	137902	genome.wustl.edu	37	chr8	52323921	52323921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacaatcagtgggtcacGcgggtaatgaaattgagcca	12	9	11	9	2	2	2	2	2	0	0	3	2	3	2	2	2	1	1	2	2	3	3	rs202110442		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr8:52323921G>T	ENST00000356297.4	-	16	2051	c.1951C>A	c.(1951-1953)Cgt>Agt	p.R651S	PXDNL_ENST00000543296.1_Missense_Mutation_p.R651S	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	651					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)				AGTGGGTCACGCGGGTAATGA	0.493																																																	0													51	52	52					8																	52323921		1962	4140	6102	SO:0001583	missense	0				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.1951C>A	8.37:g.52323921G>T	ENSP00000348645:p.Arg651Ser		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.R651S	ENST00000356297.4	37	c.1951	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	0.094	-1.162620	0.01673	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.63580	-0.04;-0.05	4.46	-1.24	0.09435	.	.	.	.	.	T	0.43166	0.1235	L	0.31120	0.905	0.09310	N	1	B	0.25007	0.116	B	0.27608	0.081	T	0.24621	-1.0155	9	0.25751	T	0.34	.	4.3491	0.11146	0.0835:0.1207:0.2315:0.5643	.	651	A1KZ92	PXDNL_HUMAN	S	651	ENSP00000348645:R651S;ENSP00000444865:R651S	ENSP00000348645:R651S	R	-	1	0	PXDNL	52486474	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.119000	0.15626	-0.761000	0.04670	-0.136000	0.14681	CGT	PXDNL	-	NULL	ENSG00000147485		0.493	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1		0	43	0	G	NM_144651		52323921	-1			no_errors	ENST00000356297	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.003	T	T	52323921	G	T	52323921	3	4	164	1	0	0	0	0	1	0	0	0	12893	1087	38	2	2472	2	PXDNL	8	52323921	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09		52323921	94040101	78	41625											
RAB2A	5862	genome.wustl.edu	37	chr8	61496838	61496838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagctttactagtttaCgatattacacggtgagaact	12	12	10	7	2	0	1	0	1	0	1	0	4	0	2	0	2	5	3	0	2	6	7			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr8:61496838C>T	ENST00000262646.7	+	4	609	c.258C>T	c.(256-258)taC>taT	p.Y86Y	RAB2A_ENST00000529579.1_Silent_p.Y86Y|RAB2A_ENST00000531289.1_Silent_p.Y62Y|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	86					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			TACTAGTTTACGATATTACAC	0.373																																																	0													136	133	134					8																	61496838		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"RAB, member RAS oncogene"	9763	protein-coding gene	gene with protein product		179509	"RAB2, member RAS oncogene family"	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.258C>T	8.37:g.61496838C>T			B2R5W8|B4DMQ5|P08886	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Y86	ENST00000262646.7	37	c.258	CCDS6175.1	8																																																																																			RAB2A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000104388		0.373	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2A	HGNC	protein_coding	OTTHUMT00000259145.2	-	0	76	0	C			61496838	1	tier1	-	no_errors	ENST00000262646	ensembl	human	known	74_37	silent	47.76	35	32	SNP	1.000	T	T	61496838	C	T	61496838	2	4	164	1	0	0	0	0	0	0	0	1	12962	547	19	1		1	RAB2A	8	61496838	Silent	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	9172917	61496838	84867184	79	41626											
RGS22	26166	genome.wustl.edu	37	chr8	101018284	101018284	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctctttatgcaaagcctgTagctttctgaagtatgtgga	9	15	10	7	0	2	1	0	1	2	0	3	2	2	2	1	1	3	4	1	1	5	5			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr8:101018284T>A	ENST00000360863.6	-	16	2609	c.2415A>T	c.(2413-2415)ctA>ctT	p.L805L	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Silent_p.L793L|RGS22_ENST00000523287.1_Silent_p.L624L|SNORD77_ENST00000391112.1_RNA	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	805					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GCAAAGCCTGTAGCTTTCTGA	0.363																																																	0													107	102	104					8																	101018284		1832	4090	5922	SO:0001819	synonymous_variant	0			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2415A>T	8.37:g.101018284T>A			A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	p.L805	ENST00000360863.6	37	c.2415	CCDS43758.1	8																																																																																			RGS22	-	NULL	ENSG00000132554		0.363	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1		0	28	0	T	NM_015668		101018284	-1			no_errors	ENST00000360863	ensembl	human	known	74_37	silent	13.51	32	5	SNP	0.984	A	A	101018284	T	A	101018284	2	1	164	1	0	0	0	0	0	0	0	1	13350	1625	57	5		5	RGS22	8	101018284	Silent	SNP	T	TCGA-VR-A8ER-01A-11D-A36J-09	39521446	101018284	45345738	80	41627											
SPAG1	6674	genome.wustl.edu	37	chr8	101203620	101203620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattggtaaattttcagctCttctgcgtcgtgctactaca	9	16	7	9	2	3	0	1	0	2	0	4	0	3	0	0	1	5	3	0	1	5	8			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr8:101203620C>A	ENST00000388798.2	+	9	1026	c.835C>A	c.(835-837)Ctt>Att	p.L279I	SPAG1_ENST00000520643.1_Missense_Mutation_p.L279I|SPAG1_ENST00000520508.1_Missense_Mutation_p.L279I|SPAG1_ENST00000251809.3_Missense_Mutation_p.L279I	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	279					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ATTTTCAGCTCTTCTGCGTCG	0.353																																																	0													107	105	105					8																	101203620		2203	4300	6503	SO:0001583	missense	0			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.835C>A	8.37:g.101203620C>A	ENSP00000373450:p.Leu279Ile		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L279I	ENST00000388798.2	37	c.835	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895305	0.72639	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.09	4.19	0.49359	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.152578	0.45126	D	0.000399	T	0.80093	0.4560	M	0.83384	2.64	0.42513	D	0.992979	D;D	0.69078	0.997;0.978	D;P	0.66351	0.943;0.756	T	0.82137	-0.0606	10	0.56958	D	0.05	-16.988	11.6423	0.51240	0.0:0.9092:0.0:0.0908	.	279;279	Q07617;G3XAM3	SPAG1_HUMAN;.	I	279	ENSP00000427716:L279I;ENSP00000251809:L279I;ENSP00000428070:L279I;ENSP00000373450:L279I	ENSP00000251809:L279I	L	+	1	0	SPAG1	101272796	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.842000	0.39250	2.529000	0.85273	0.555000	0.69702	CTT	SPAG1	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000104450		0.353	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2		0	45	0	C	NM_172218		101203620	1			no_errors	ENST00000251809	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	A	A	101203620	C	A	101203620	3	1	164	1	0	0	0	0	1	0	0	0	15022	913	32	3	865	3	SPAG1	8	101203620	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	185336	101203620	45160402	81	41628											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110492355	110492355	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgttttgaatgctacctAcatatcactgcaggtaagag	12	13	9	7	0	1	2	1	1	0	1	1	2	1	2	1	1	4	5	1	1	5	7			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr8:110492355A>C	ENST00000378402.5	+	55	9418	c.9314A>C	c.(9313-9315)tAc>tCc	p.Y3105S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3105	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGCTACCTACATATCACTG	0.333										HNSCC(38;0.096)																																							0													47	46	46					8																	110492355		1825	4079	5904	SO:0001583	missense	0			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.9314A>C	8.37:g.110492355A>C	ENSP00000367655:p.Tyr3105Ser		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.Y3105S	ENST00000378402.5	37	c.9314	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644408	0.67244	.	.	ENSG00000205038	ENST00000378402	D	0.88277	-2.36	5.25	5.25	0.73442	G8 domain (2);	0.000000	0.64402	D	0.000001	D	0.87989	0.6317	M	0.62154	1.92	0.38124	D	0.937951	B	0.29766	0.256	B	0.34346	0.18	D	0.88064	0.2796	10	0.48119	T	0.1	.	13.4085	0.60929	1.0:0.0:0.0:0.0	.	3105	Q86WI1	PKHL1_HUMAN	S	3105	ENSP00000367655:Y3105S	ENSP00000367655:Y3105S	Y	+	2	0	PKHD1L1	110561531	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.320000	0.72876	2.105000	0.64084	0.528000	0.53228	TAC	PKHD1L1	-	pfam_G8_domain	ENSG00000205038		0.333	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0	27	0	A	NM_177531		110492355	1			no_errors	ENST00000378402	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	C	C	110492355	A	C	110492355	3	2	164	1	0	0	0	0	1	0	0	0	12011	391	14	4	9532	4	PKHD1L1	8	110492355	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	9288735	110492355	35871667	82	41629											
FLJ46321	389763	genome.wustl.edu	37	chr9	84606906	84606906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccagctcttctggggtctCccatctttgcacagcgagtc	5	12	10	14	1	4	0	0	0	4	0	7	1	5	0	2	2	3	2	2	2	0	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr9:84606906C>T	ENST00000344803.2	+	4	1568	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	507					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTGGGGTCTCCCATCTTTGC	0.438																																																	0													75	70	71					9																	84606906		1962	4167	6129	SO:0001819	synonymous_variant	0				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.1521C>T	9.37:g.84606906C>T				Silent	SNP	NULL	p.L507	ENST00000344803.2	37	c.1521	CCDS47986.1	9																																																																																			SPATA31D1	-	NULL	ENSG00000214929		0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	90	0	C	NM_001001670		84606906	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	silent	15.43	148	27	SNP	0.684	T	T	84606906	C	T	84606906	2	4	164	1	0	0	0	0	0	0	0	1	5954	842	30	3		3	FLJ46321	9	84606906	Silent	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09		84606906	56606525	83	41630											
ASPN	54829	genome.wustl.edu	37	chr9	95237021	95237021	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	cttgttggaaaaagagagttGtcctcatcatcatcatcatc	12	13	7	9	0	5	1	5	0	0	1	7	3	6	2	1	1	0	2	1	1	2	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr9:95237021G>C	ENST00000375544.3	-	2	402	c.159C>G	c.(157-159)gaC>gaG	p.D53E	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000450139.2_Missense_Mutation_p.D25E|ASPN_ENST00000375543.1_Missense_Mutation_p.D53E|ASPN_ENST00000395538.3_Missense_Mutation_p.D53E	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	53	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						AAAGAGAGTTGTCCtcatcat	0.403																																																	0													111	104	106					9																	95237021		2203	4300	6503	SO:0001583	missense	0			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.159C>G	9.37:g.95237021G>C	ENSP00000364694:p.Asp53Glu		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.D53E	ENST00000375544.3	37	c.159		9	.	.	.	.	.	.	.	.	.	.	G	0.370	-0.934729	0.02340	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	T;T;T	0.53640	0.61;1.12;1.12	5.02	-1.45	0.08828	.	0.516121	0.18712	N	0.133276	T	0.36608	0.0973	M	0.61703	1.905	0.21841	N	0.999514	B;B	0.17465	0.001;0.022	B;B	0.09377	0.001;0.004	T	0.25257	-1.0137	10	0.23302	T	0.38	.	7.0645	0.25143	0.3097:0.1088:0.5815:0.0	.	53;53	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	E	53;53;53;25	ENSP00000364694:D53E;ENSP00000364693:D53E;ENSP00000378909:D53E	ENSP00000364693:D53E	D	-	3	2	ASPN	94276842	0.447000	0.25673	0.003000	0.11579	0.040000	0.13550	0.244000	0.18124	-0.502000	0.06596	-0.122000	0.15005	GAC	ASPN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000106819		0.403	ASPN-001	KNOWN	basic|appris_principal	protein_coding	ASPN	HGNC	protein_coding	OTTHUMT00000053094.1		0	44	0	G	NM_017680		95237021	-1			no_errors	ENST00000375544	ensembl	human	known	74_37	missense	13.95	37	6	SNP	0.936	C	C	95237021	G	C	95237021	3	2	164	1	0	0	0	0	1	0	0	0	1058	1368	48	5	1011	5	ASPN	9	95237021	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	10630115	95237021	45976410	84	41631											
ABCA1	19	genome.wustl.edu	37	chr9	107651454	107651454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagataaatagaggccagGccacttccagcagcagctga	14	5	12	10	0	0	3	0	1	0	2	1	4	1	4	3	3	3	3	3	3	4	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr9:107651454G>A	ENST00000374736.3	-	3	483	c.89C>T	c.(88-90)gCc>gTc	p.A30V	ABCA1_ENST00000374733.1_5'UTR|ABCA1_ENST00000423487.2_Missense_Mutation_p.A30V	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	30					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)	TAGAGGCCAGGCCACTTCCAG	0.438																																																	0													65	67	66					9																	107651454		2203	4300	6503	SO:0001583	missense	0			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.89C>T	9.37:g.107651454G>A	ENSP00000363868:p.Ala30Val		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A30V	ENST00000374736.3	37	c.89	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205401	0.39003	.	.	ENSG00000165029	ENST00000374736;ENST00000423487	T;T	0.47177	0.85;0.85	6.01	6.01	0.97437	.	0.204140	0.52532	D	0.000071	T	0.32734	0.0839	N	0.16098	0.37	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23048	-1.0199	10	0.07813	T	0.8	.	20.5259	0.99229	0.0:0.0:1.0:0.0	.	30	O95477	ABCA1_HUMAN	V	30	ENSP00000363868:A30V;ENSP00000416623:A30V	ENSP00000363868:A30V	A	-	2	0	ABCA1	106691275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.542000	0.67218	2.845000	0.97973	0.643000	0.83706	GCC	ABCA1	-	NULL	ENSG00000165029		0.438	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1		0	45	0	G	NM_005502		107651454	-1			no_errors	ENST00000374736	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	107651454	G	A	107651454	3	1	164	1	0	0	0	0	1	0	0	0	28	1203	42	3	6888	3	ABCA1	9	107651454	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	12414433	107651454	33561977	85	41632											
GPR21	2844	genome.wustl.edu	37	chr9	125797216	125797216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttctctggcctgtatcaGcattgatagatacattgcca	9	13	9	10	0	2	2	1	1	1	1	3	2	2	2	2	2	3	3	2	2	3	6			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr9:125797216G>T	ENST00000373642.1	+	1	411	c.371G>T	c.(370-372)aGc>aTc	p.S124I	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	124					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						GCCTGTATCAGCATTGATAGA	0.438																																																	0													113	103	107					9																	125797216		2203	4300	6503	SO:0001583	missense	0			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.371G>T	9.37:g.125797216G>T	ENSP00000362746:p.Ser124Ile		B2R8W9|Q6NXU2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S124I	ENST00000373642.1	37	c.371	CCDS6849.1	9	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618182	0.66787	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.81330	-1.48	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.92388	0.7584	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94059	0.7325	10	0.87932	D	0	-11.5883	18.8506	0.92227	0.0:0.0:1.0:0.0	.	124	Q99679	GPR21_HUMAN	I	124	ENSP00000362746:S124I	ENSP00000362746:S124I	S	+	2	0	GPR21	124837037	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.457000	0.83068	0.563000	0.77884	AGC	GPR21	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188394		0.438	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR21	HGNC	protein_coding	OTTHUMT00000053965.1		0	25	0	G	NM_005294		125797216	1			no_errors	ENST00000373642	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	125797216	G	T	125797216	3	4	164	1	0	0	0	0	1	0	0	0	6707	971	34	3	373	3	GPR21	9	125797216	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	18145762	125797216	15416215	86	41633											
PHYHD1	254295	genome.wustl.edu	37	chr9	131702968	131702968	+	Missense_Mutation	SNP	T	T	C	0	1	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	gccagcccgggataacagccTctttgtgcccaccccagtgc	7	7	10	17	1	1	0	0	0	1	0	1	1	1	1	6	1	5	0	6	1	1	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr9:131702968T>C	ENST00000372592.3	+	11	1610	c.677T>C	c.(676-678)cTc>cCc	p.L226P	PHYHD1_ENST00000487504.1_3'UTR|PHYHD1_ENST00000353176.5_Missense_Mutation_p.L205P|RP11-101E3.5_ENST00000482796.1_5'Flank|PHYHD1_ENST00000308941.5_Missense_Mutation_p.S219P|PHYHD1_ENST00000421063.2_Missense_Mutation_p.L205P	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	226							dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						GATAACAGCCTCTTTGTGCCC	0.627																																																	0													52	48	49					9																	131702968		2203	4300	6503	SO:0001583	missense	0			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.677T>C	9.37:g.131702968T>C	ENSP00000361673:p.Leu226Pro		A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Missense_Mutation	SNP	pfam_Phytyl_CoA_dOase	p.S219P	ENST00000372592.3	37	c.655	CCDS43885.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.07|12.07	1.827757|1.827757	0.32329|0.32329	.|.	.|.	ENSG00000175287|ENSG00000175287	ENST00000372592;ENST00000353176;ENST00000421063|ENST00000308941	D;D;D|.	0.89343|.	-2.5;-2.5;-2.5|.	4.74|4.74	2.38|2.38	0.29361|0.29361	.|.	.|3.152210	.|0.00812	.|N	.|0.001511	T|T	0.33614|0.33614	0.0869|0.0869	.|.	.|.	.|.	0.26332|0.26332	N|N	0.977504|0.977504	P;P|P	0.41232|0.50528	0.713;0.743|0.936	P;B|P	0.45343|0.44990	0.477;0.392|0.466	T|T	0.31916|0.31916	-0.9926|-0.9926	7|8	.|0.51188	.|T	.|0.08	.|.	4.2512|4.2512	0.10695|0.10695	0.3797:0.0:0.1598:0.4605|0.3797:0.0:0.1598:0.4605	.|.	205;226|219	Q5SRE7-2;Q5SRE7|Q5SRE7-3	.;PHYD1_HUMAN|.	P|P	226;205;205|219	ENSP00000361673:L226P;ENSP00000340945:L205P;ENSP00000409928:L205P|.	.|ENSP00000309515:S219P	L|S	+|+	2|1	0|0	PHYHD1|PHYHD1	130742789|130742789	1.000000|1.000000	0.71417|0.71417	0.901000|0.901000	0.35422|0.35422	0.506000|0.506000	0.33950|0.33950	3.449000|3.449000	0.52950|0.52950	1.794000|1.794000	0.52575|0.52575	0.449000|0.449000	0.29647|0.29647	CTC|TCT	PHYHD1	-	NULL	ENSG00000175287		0.627	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYHD1	HGNC	protein_coding	OTTHUMT00000054506.2	-	0	75	0	T	NM_174933		131702968	1	tier1	-	no_errors	ENST00000308941	ensembl	human	known	74_37	missense	70.00	21	49	SNP	0.199	C	C	131702968	T	C	131702968	3	2	164	1	0	0	0	0	1	0	0	0	11904	1551	54	4	711	4	PHYHD1	9	131702968	Missense_Mutation	SNP	T	TCGA-VR-A8ER-01A-11D-A36J-09	5905752	131702968	9510463	87	41634											
C10orf140	387640	genome.wustl.edu	37	chr10	21805720	21805720	+	Silent	SNP	A	A	G	1	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	tggtggtggtggtggtggtgAtggtggtggtggtggtggtg	1	14	26	0	0	0	1	0	1	0	0	0	1	0	1	0	12	0	0	0	12	0	0			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr10:21805720A>G	ENST00000449193.2	-	4	3284	c.1032T>C	c.(1030-1032)caT>caC	p.H344H	SKIDA1_ENST00000444772.3_Silent_p.H265H|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	263	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											ggtggtggtgatggtggtggt	0.716																																																	0													4	6	5					10																	21805720		1658	3602	5260	SO:0001819	synonymous_variant	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1032T>C	10.37:g.21805720A>G			B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.H344	ENST00000449193.2	37	c.1032	CCDS44363.1	10																																																																																			SKIDA1	-	NULL	ENSG00000180592		0.716	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2		0	14	0	A	NM_207371		21805720	-1			no_errors	ENST00000449193	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.972	G	G	21805720	A	G	21805720	2	3	164	1	0	0	0	0	0	0	0	1	1600	330	12	4		4	C10orf140	10	21805720	Silent	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09		21805720	113729027	88	41635											
RUFY2	55680	genome.wustl.edu	37	chr10	70154087	70154087	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctagtcactttcacttacttGtgagtctaaatcctctccct	8	16	4	13	0	4	1	2	1	2	0	6	1	5	1	2	0	1	0	2	0	4	5			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr10:70154087G>T	ENST00000602465.1	-	5	620	c.520C>A	c.(520-522)Caa>Aaa	p.Q174K	RUFY2_ENST00000399200.2_Missense_Mutation_p.Q140K|RUFY2_ENST00000454950.2_Missense_Mutation_p.Q116K|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000388768.2_Missense_Mutation_p.Q209K|RUFY2_ENST00000342616.4_Missense_Mutation_p.Q174K			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	223	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.Q209E(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TCACTTACTTGTGAGTCTAAA	0.423																																																	1	Substitution - Missense(1)	lung(1)											183	175	177					10																	70154087		2042	4203	6245	SO:0001583	missense	0			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"Zinc fingers, FYVE domain containing"	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.520C>A	10.37:g.70154087G>T	ENSP00000473462:p.Gln174Lys		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel	p.Q209K	ENST00000602465.1	37	c.625		10	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427813	0.83667	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950;ENST00000342616	T;T;T;T	0.55413	0.52;1.7;1.28;1.45	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.75042	0.3796	M	0.82823	2.61	0.80722	D	1	P;P;P;P;P	0.52577	0.71;0.781;0.809;0.954;0.916	P;B;P;D;P	0.67900	0.563;0.204;0.747;0.954;0.813	T	0.74463	-0.3657	10	0.42905	T	0.14	.	19.3116	0.94189	0.0:0.0:1.0:0.0	.	116;174;174;140;209	B4DFR0;Q5TC51;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.;.	K	209;140;116;174	ENSP00000373420:Q209K;ENSP00000382151:Q140K;ENSP00000404986:Q116K;ENSP00000341727:Q174K	ENSP00000341727:Q174K	Q	-	1	0	RUFY2	69824093	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.646000	0.98474	2.808000	0.96608	0.650000	0.86243	CAA	RUFY2	-	NULL	ENSG00000204130		0.423	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	RUFY2	HGNC	protein_coding	OTTHUMT00000467567.1		0	74	0	G	NM_017987		70154087	-1			no_errors	ENST00000388768	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	70154087	G	T	70154087	3	4	164	1	0	0	0	0	1	0	0	0	13784	1386	48	3	1469	3	RUFY2	10	70154087	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	48348367	70154087	65380660	89	41636											
LIPN	643418	genome.wustl.edu	37	chr10	90528642	90528642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcattcaaatatcccacggGcatttttaccaggttttttc	9	16	5	11	1	2	0	2	0	0	0	4	0	3	0	2	2	1	2	2	2	3	8			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr10:90528642G>A	ENST00000404459.1	+	5	629	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	210					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TATCCCACGGGCATTTTTACC	0.398																																																	0													102	96	98					10																	90528642		1805	4066	5871	SO:0001583	missense	0				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"lipase-like, ab-hydrolase domain containing 4"	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.629G>A	10.37:g.90528642G>A	ENSP00000383923:p.Gly210Asp		A7KIH9	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.G210D	ENST00000404459.1	37	c.629	CCDS44456.1	10	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841116	0.51057	.	.	ENSG00000204020	ENST00000404459	T	0.70282	-0.47	4.6	4.6	0.57074	Alpha/beta hydrolase fold-1 (1);	0.355674	0.24590	N	0.037235	T	0.75561	0.3866	M	0.67700	2.07	0.09310	N	1	P	0.40731	0.728	P	0.47603	0.551	T	0.71570	-0.4553	10	0.87932	D	0	-2.6343	14.4421	0.67325	0.0:0.0:1.0:0.0	.	210	Q5VXI9	LIPN_HUMAN	D	210	ENSP00000383923:G210D	ENSP00000383923:G210D	G	+	2	0	LIPN	90518622	0.220000	0.23631	0.027000	0.17364	0.762000	0.43233	3.397000	0.52572	2.374000	0.81015	0.585000	0.79938	GGC	LIPN	-	pfam_AB_hydrolase_1	ENSG00000204020		0.398	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPN	HGNC	protein_coding	OTTHUMT00000049254.2	-	0	50	0	G	XM_926751		90528642	1	tier1	-	no_errors	ENST00000404459	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.014	A	A	90528642	G	A	90528642	3	1	164	1	0	0	0	0	1	0	0	0	8858	1203	42	3	647	3	LIPN	10	90528642	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	20374555	90528642	45006105	90	41637											
LGI1	9211	genome.wustl.edu	37	chr10	95537161	95537161	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcacatcgaactcctttgatGtgatcagtgatgatgctttt	9	16	8	8	1	2	4	2	4	0	0	4	5	3	4	1	0	2	1	1	0	1	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr10:95537161G>T	ENST00000371418.4	+	3	573	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	LGI1_ENST00000542308.1_Intron|LGI1_ENST00000371413.3_Missense_Mutation_p.V105L	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	105					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)				CTCCTTTGATGTGATCAGTGA	0.353																																																	0													122	111	115					10																	95537161		2203	4300	6503	SO:0001583	missense	0			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.313G>T	10.37:g.95537161G>T	ENSP00000360472:p.Val105Leu		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.V105L	ENST00000371418.4	37	c.313	CCDS7431.1	10	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328390	0.41197	.	.	ENSG00000108231	ENST00000371418;ENST00000371413	D;D	0.90069	-2.61;-2.61	6.17	6.17	0.99709	.	0.295570	0.35708	N	0.003040	D	0.82893	0.5136	N	0.26162	0.8	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.005;0.008	T	0.76841	-0.2810	10	0.07325	T	0.83	-6.2332	20.8794	0.99867	0.0:0.0:1.0:0.0	.	105;105	O95970-2;O95970	.;LGI1_HUMAN	L	105	ENSP00000360472:V105L;ENSP00000360467:V105L	ENSP00000360467:V105L	V	+	1	0	LGI1	95527151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.511000	0.60462	2.941000	0.99782	0.655000	0.94253	GTG	LGI1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000108231		0.353	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	-	0	47	0	G	NM_005097		95537161	1	tier1	-	no_errors	ENST00000371418	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	95537161	G	T	95537161	3	4	164	1	0	0	0	0	1	0	0	0	8780	1377	48	3	323	3	LGI1	10	95537161	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	5008519	95537161	39997586	91	41638											
NRAP	4892	genome.wustl.edu	37	chr10	115364652	115364652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctatgagtttccctcgctCcttcacaaagtcatgtctgt	7	14	6	14	1	3	1	2	1	1	0	6	1	5	1	3	0	0	2	3	0	2	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr10:115364652C>T	ENST00000359988.3	-	35	4187	c.3943G>A	c.(3943-3945)Gag>Aag	p.E1315K	NRAP_ENST00000369360.3_Missense_Mutation_p.E1288K|NRAP_ENST00000369358.4_Missense_Mutation_p.E1323K|NRAP_ENST00000360478.3_Missense_Mutation_p.E1280K	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)		TTCCCTCGCTCCTTCACAAAG	0.527																																																	0													67	71	69					10																	115364652		2203	4300	6503	SO:0001583	missense	0				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.3943G>A	10.37:g.115364652C>T	ENSP00000353078:p.Glu1315Lys			Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.E1323K	ENST00000359988.3	37	c.3967	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.093249	0.94149	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.18016	2.48;2.49;2.33;2.24	5.68	5.68	0.88126	.	0.102462	0.64402	D	0.000003	T	0.37128	0.0992	L	0.61218	1.895	0.53688	D	0.999978	B;D;D;D	0.65815	0.004;0.995;0.994;0.99	B;P;D;P	0.64687	0.005;0.849;0.928;0.849	T	0.03852	-1.0998	10	0.12103	T	0.63	.	19.7905	0.96454	0.0:1.0:0.0:0.0	.	473;1315;1280;1315	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	K	1323;1288;1315;1280;473	ENSP00000358365:E1323K;ENSP00000358367:E1288K;ENSP00000353078:E1315K;ENSP00000353666:E1280K	ENSP00000353078:E1315K	E	-	1	0	NRAP	115354642	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.786000	0.85741	2.691000	0.91804	0.650000	0.86243	GAG	NRAP	-	NULL	ENSG00000197893		0.527	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	-	0	31	0	C	NM_006175		115364652	-1	tier1	-	no_errors	ENST00000369358	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	115364652	C	T	115364652	3	4	164	1	0	0	0	0	1	0	0	0	10677	864	30	3	1281	3	NRAP	10	115364652	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	19827491	115364652	20170095	92	41639											
ABTB2	25841	genome.wustl.edu	37	chr11	34186322	34186322	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctccagcatgctgaggagGgggtcggcgcctcggctcag	5	6	17	13	3	1	1	1	1	0	0	4	2	2	2	3	5	2	3	3	5	0	0			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr11:34186322G>A	ENST00000435224.2	-	9	2323	c.1899C>T	c.(1897-1899)ccC>ccT	p.P633P	ABTB2_ENST00000298992.2_Silent_p.P447P	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	633					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)				TGCTGAGGAGGGGGTCGGCGC	0.637																																																	0													57	52	54					11																	34186322		2202	4298	6500	SO:0001819	synonymous_variant	0			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.1899C>T	11.37:g.34186322G>A			A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.P633	ENST00000435224.2	37	c.1899	CCDS7890.2	11																																																																																			ABTB2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000166016		0.637	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	HGNC	protein_coding	OTTHUMT00000388703.3	-	0	38	0	G	NM_145804		34186322	-1	tier1	-	no_errors	ENST00000435224	ensembl	human	known	74_37	silent	64.52	22	40	SNP	0.896	A	A	34186322	G	A	34186322	2	1	164	1	0	0	0	0	0	0	0	1	103	1219	43	3		3	ABTB2	11	34186322	Silent	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09		34186322	100820194	93	41640											
OR4C6	219432	genome.wustl.edu	37	chr11	55432949	55432949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacccagctgtttgtggagCatttctttggtggtgtgggg	4	15	15	7	0	2	0	1	0	1	0	2	1	2	1	1	5	2	3	1	5	0	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr11:55432949C>G	ENST00000314259.3	+	1	336	c.307C>G	c.(307-309)Cat>Gat	p.H103D		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H103N(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTTTGTGGAGCATTTCTTTGG	0.532																																																	1	Substitution - Missense(1)	lung(1)											115	105	108					11																	55432949		2200	4296	6496	SO:0001583	missense	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.307C>G	11.37:g.55432949C>G	ENSP00000324769:p.His103Asp		B2RP11|Q6IFD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H103D	ENST00000314259.3	37	c.307	CCDS31506.1	11	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947528	0.18356	.	.	ENSG00000181903	ENST00000314259	T	0.00551	6.65	3.3	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39544	N	0.001323	T	0.01800	0.0057	M	0.84156	2.68	0.24227	N	0.995414	D	0.64830	0.994	D	0.66847	0.947	T	0.23976	-1.0173	10	0.87932	D	0	.	8.4299	0.32750	0.0:0.8818:0.0:0.1182	.	103	Q8NH72	OR4C6_HUMAN	D	103	ENSP00000324769:H103D	ENSP00000324769:H103D	H	+	1	0	OR4C6	55189525	0.000000	0.05858	0.045000	0.18777	0.004000	0.04260	-1.616000	0.02053	0.568000	0.29311	-0.406000	0.06334	CAT	OR4C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181903		0.532	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1	-	0	23	0	C	NM_001004704		55432949	1	tier1	-	no_errors	ENST00000314259	ensembl	human	known	74_37	missense	43.75	9	7	SNP	0.713	G	G	55432949	C	G	55432949	3	3	164	1	0	0	0	0	1	0	0	0	11091	710	25	5	309	5	OR4C6	11	55432949	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	21246627	55432949	79573567	94	41641											
OR1S1	219959	genome.wustl.edu	37	chr11	57982677	57982677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcatgcggcccaggttcgGcattttgctcacagtcatct	6	13	9	13	2	4	0	3	0	2	0	6	0	4	0	1	3	2	3	1	3	0	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr11:57982677G>T	ENST00000309433.6	+	1	461	c.461G>T	c.(460-462)gGc>gTc	p.G154V		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	154						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)				CCCAGGTTCGGCATTTTGCTC	0.468																																																	0													203	194	197					11																	57982677		2201	4296	6497	SO:0001583	missense	0			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.461G>T	11.37:g.57982677G>T	ENSP00000311688:p.Gly154Val		Q6IFG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G154V	ENST00000309433.6	37	c.461	CCDS31546.1	11	.	.	.	.	.	.	.	.	.	.	G	6.789	0.514607	0.12944	.	.	ENSG00000172774	ENST00000309433	T	0.35421	1.31	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.118214	0.38548	N	0.001648	T	0.22551	0.0544	N	0.08118	0	0.28351	N	0.920888	B	0.22080	0.064	B	0.27170	0.077	T	0.32241	-0.9914	10	0.87932	D	0	.	14.1	0.65049	0.0:0.0:1.0:0.0	.	154	Q8NH92	OR1S1_HUMAN	V	154	ENSP00000311688:G154V	ENSP00000311688:G154V	G	+	2	0	OR1S1	57739253	0.983000	0.35010	0.064000	0.19789	0.156000	0.22039	4.630000	0.61297	1.770000	0.52166	0.479000	0.44913	GGC	OR1S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000172774		0.468	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	HGNC	protein_coding	OTTHUMT00000394705.1		0	33	0	G	NM_001004458		57982677	1			no_errors	ENST00000309433	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.332	T	T	57982677	G	T	57982677	3	4	164	1	0	0	0	0	1	0	0	0	11011	1203	42	3	463	3	OR1S1	11	57982677	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	2549728	57982677	77023839	95	41642											
MPEG1	219972	genome.wustl.edu	37	chr11	58979273	58979273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcctgaaaattgaagttggGagaattgagatctgtgcagc	12	10	14	5	0	1	4	0	3	1	2	1	6	1	4	1	2	2	2	1	2	4	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr11:58979273G>T	ENST00000361050.3	-	1	1151	c.1066C>A	c.(1066-1068)Ccc>Acc	p.P356T	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	356						integral component of membrane (GO:0016021)		p.P356A(1)		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)				TTGAAGTTGGGAGAATTGAGA	0.502																																																	1	Substitution - Missense(1)	NS(1)											95	92	93					11																	58979273		1924	4131	6055	SO:0001583	missense	0			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.1066C>A	11.37:g.58979273G>T	ENSP00000354335:p.Pro356Thr		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.P356T	ENST00000361050.3	37	c.1066	CCDS41650.1	11	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711878	0.48517	.	.	ENSG00000197629	ENST00000361050	T	0.25085	1.82	5.73	5.73	0.89815	.	0.122641	0.53938	D	0.000047	T	0.53302	0.1788	M	0.78049	2.395	0.43321	D	0.995346	D	0.76494	0.999	D	0.72075	0.976	T	0.54748	-0.8247	10	0.66056	D	0.02	-29.4381	16.8192	0.85741	0.0:0.0:1.0:0.0	.	356	Q2M385	MPEG1_HUMAN	T	356	ENSP00000354335:P356T	ENSP00000354335:P356T	P	-	1	0	MPEG1	58735849	0.997000	0.39634	0.937000	0.37676	0.540000	0.34992	2.436000	0.44819	2.722000	0.93159	0.655000	0.94253	CCC	MPEG1	-	NULL	ENSG00000197629		0.502	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPEG1	HGNC	protein_coding	OTTHUMT00000370027.1		0	69	0	G	NM_001039396		58979273	-1			no_errors	ENST00000361050	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.991	T	T	58979273	G	T	58979273	3	4	164	1	0	0	0	0	1	0	0	0	9761	1174	41	3	1088	3	MPEG1	11	58979273	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	996596	58979273	76027243	96	41643											
B3GNT1	11041	genome.wustl.edu	37	chr11	66114717	66114717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggttgtccacgctggcGtgcgtggccaggatcacatc	7	8	14	12	3	1	0	1	0	0	0	3	1	2	1	2	4	2	3	2	4	0	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr11:66114717G>T	ENST00000311181.4	-	1	446	c.300C>A	c.(298-300)caC>caA	p.H100Q	BRMS1_ENST00000359957.3_5'Flank|BRMS1_ENST00000425825.2_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	100					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)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCACGCTGGCGTGCGTGGCCA	0.677																																																	0													26	20	22					11																	66114717		2179	4278	6457	SO:0001583	missense	0			AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"Beta 3-glycosyltransferases"	15685	protein-coding gene	gene with protein product	"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"	605517	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.300C>A	11.37:g.66114717G>T	ENSP00000309096:p.His100Gln		Q4TTN0	Missense_Mutation	SNP	NULL	p.H100Q	ENST00000311181.4	37	c.300	CCDS8136.1	11	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172657	0.38413	.	.	ENSG00000174684	ENST00000311181	T	0.23950	1.88	5.18	1.14	0.20703	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	N	0.02665	-0.54	0.54753	D	0.999986	P	0.35242	0.492	B	0.43658	0.426	T	0.24548	-1.0157	10	0.02654	T	1	-38.7949	8.6889	0.34254	0.3281:0.0:0.6719:0.0	.	100	O43505	B3GN1_HUMAN	Q	100	ENSP00000309096:H100Q	ENSP00000309096:H100Q	H	-	3	2	B3GNT1	65871293	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.391000	0.34475	0.020000	0.15106	0.462000	0.41574	CAC	B3GNT1	-	NULL	ENSG00000174684		0.677	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT1	HGNC	protein_coding	OTTHUMT00000392959.1		0	71	0	G	NM_006876		66114717	-1			no_errors	ENST00000311181	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	66114717	G	T	66114717	3	4	164	1	0	0	0	0	1	0	0	0	1257	1136	40	2	955	2	B3GNT1	11	66114717	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	7135444	66114717	68891799	97	41644											
RBM14	10432	genome.wustl.edu	37	chr11	66391808	66391808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccaagggtcagaagaaggGgcctggcctggctgtccagt	9	6	15	11	0	1	2	1	0	0	2	2	2	2	2	4	5	0	1	4	5	3	0			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr11:66391808G>T	ENST00000310137.4	+	2	600	c.461G>T	c.(460-462)gGg>gTg	p.G154V	RBM14_ENST00000461478.1_3'UTR|RBM14_ENST00000443702.1_3'UTR|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409372.1_3'UTR|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	154					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						CAGAAGAAGGGGCCTGGCCTG	0.587																																																	0													59	60	60					11																	66391808		2200	4295	6495	SO:0001583	missense	0			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.461G>T	11.37:g.66391808G>T	ENSP00000311747:p.Gly154Val		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G154V	ENST00000310137.4	37	c.461	CCDS8147.1	11	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947860	0.53186	.	.	ENSG00000239306	ENST00000310137	T	0.74737	-0.87	5.44	5.44	0.79542	Nucleotide-binding, alpha-beta plait (1);	0.137450	0.47852	D	0.000210	T	0.70298	0.3208	N	0.14661	0.345	0.80722	D	1	D	0.54601	0.967	P	0.52424	0.698	T	0.75938	-0.3141	10	0.72032	D	0.01	-2.5152	16.7728	0.85543	0.0:0.0:1.0:0.0	.	154	Q96PK6	RBM14_HUMAN	V	154	ENSP00000311747:G154V	ENSP00000311747:G154V	G	+	2	0	RBM14	66148384	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.235000	0.65348	2.560000	0.86352	0.655000	0.94253	GGG	RBM14	-	NULL	ENSG00000239306		0.587	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	-	0	94	0	G	NM_006328		66391808	1	tier1	-	no_errors	ENST00000310137	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	66391808	G	T	66391808	3	4	164	1	0	0	0	0	1	0	0	0	13160	1232	43	3	467	3	RBM14	11	66391808	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	277091	66391808	68614708	98	41645											
GPR83	10888	genome.wustl.edu	37	chr11	94134267	94134267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagttctgccagtcggaGaaggtgtagttgttccaaga	12	10	12	7	1	1	2	0	0	1	2	3	3	2	2	2	2	1	4	2	2	4	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr11:94134267G>T	ENST00000243673.2	-	1	318	c.147C>A	c.(145-147)ttC>ttA	p.F49L	GPR83_ENST00000539203.2_Missense_Mutation_p.F49L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	49					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)				GCCAGTCGGAGAAGGTGTAGT	0.632																																																	0													69	73	72					11																	94134267		2201	4298	6499	SO:0001583	missense	0			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.147C>A	11.37:g.94134267G>T	ENSP00000243673:p.Phe49Leu		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.F49L	ENST00000243673.2	37	c.147	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	G	4.897	0.166667	0.09339	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.59772	0.24;0.28	4.68	2.48	0.30137	.	0.136171	0.50627	N	0.000119	T	0.26412	0.0645	N	0.10733	0.035	0.28647	N	0.906861	B	0.06786	0.001	B	0.06405	0.002	T	0.17107	-1.0380	10	0.06891	T	0.86	.	4.1221	0.10109	0.2748:0.362:0.3632:0.0	.	49	Q9NYM4	GPR83_HUMAN	L	49	ENSP00000243673:F49L;ENSP00000441550:F49L	ENSP00000243673:F49L	F	-	3	2	GPR83	93773915	0.857000	0.29778	1.000000	0.80357	0.990000	0.78478	-0.167000	0.09940	0.965000	0.38133	0.462000	0.41574	TTC	GPR83	-	NULL	ENSG00000123901		0.632	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1	-	0	45	0	G	NM_016540		94134267	-1	tier1	-	no_errors	ENST00000243673	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.967	T	T	94134267	G	T	94134267	3	4	164	1	0	0	0	0	1	0	0	0	6739	933	33	3	1140	3	GPR83	11	94134267	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	27742459	94134267	40872249	99	41646											
CD27	939	genome.wustl.edu	37	chr12	6559346	6559346	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcccccaggtcttctCgttcgcaactgcaccatcac	6	12	5	18	2	4	0	1	0	3	0	8	0	5	0	3	1	2	3	3	1	1	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr12:6559346C>A	ENST00000266557.3	+	3	505	c.276C>A	c.(274-276)ctC>ctA	p.L92L	TAPBPL_ENST00000544021.1_5'Flank|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|TAPBPL_ENST00000266556.7_5'Flank|CD27_ENST00000541233.1_3'UTR	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	92					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)	p.L92L(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CAGGTCTTCTCGTTCGCAACT	0.587																																																	1	Substitution - coding silent(1)	large_intestine(1)											131	91	105					12																	6559346		2203	4300	6503	SO:0001819	synonymous_variant	0			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"Tumor necrosis factor receptor superfamily", "CD molecules"	11922	protein-coding gene	gene with protein product		186711	"tumor necrosis factor receptor superfamily, member 7"	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.276C>A	12.37:g.6559346C>A			B2RDZ0	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt	p.L92	ENST00000266557.3	37	c.276	CCDS8545.1	12																																																																																			CD27	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg	ENSG00000139193		0.587	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD27	HGNC	protein_coding	OTTHUMT00000399258.1		0	39	0	C			6559346	1			no_errors	ENST00000266557	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.029	A	A	6559346	C	A	6559346	2	1	164	1	0	0	0	0	0	0	0	1	2997	871	31	2		2	CD27	12	6559346	Silent	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09		6559346	127292549	100	41647											
LPAR5	57121	genome.wustl.edu	37	chr12	6729479	6729479	+	Silent	SNP	G	G	T	0	0	1	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	gtcctggcccggtgcggagtGcccaggccgcgcagggtgtt	3	7	18	13	4	0	0	0	0	0	0	1	1	1	1	4	5	2	2	4	5	0	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr12:6729479G>T	ENST00000329858.4	-	2	1692	c.936C>A	c.(934-936)ggC>ggA	p.G312G	LPAR5_ENST00000431922.1_Silent_p.G312G|LPAR5_ENST00000540335.1_5'Flank	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	312						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						GGTGCGGAGTGCCCAGGCCGC	0.706																																					NSCLC(74;891 2312 37538)												0													12	16	15					12																	6729479		2195	4282	6477	SO:0001819	synonymous_variant	0			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.936C>A	12.37:g.6729479G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G312	ENST00000329858.4	37	c.936	CCDS8553.1	12																																																																																			LPAR5	-	NULL	ENSG00000184574		0.706	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR5	HGNC	protein_coding	OTTHUMT00000400699.1		0	12	0	G	NM_020400		6729479	-1			no_errors	ENST00000329858	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.002	T	T	6729479	G	T	6729479	2	4	164	1	0	0	0	0	0	0	0	1	8943	1306	46	3		3	LPAR5	12	6729479	Silent	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	170133	6729479	127122416	101	41648											
ESPL1	9700	genome.wustl.edu	37	chr12	53663130	53663130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ggtgcagtgctctcgcgaggCtgctccccaggactatgagg	6	8	15	12	2	1	1	0	1	1	0	3	3	2	2	2	4	3	4	2	4	1	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr12:53663130C>A	ENST00000257934.4	+	3	495	c.404C>A	c.(403-405)gCt>gAt	p.A135D	ESPL1_ENST00000552462.1_Missense_Mutation_p.A135D	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	135					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						TCTCGCGAGGCTGCTCCCCAG	0.617																																					Colon(53;1069 1201 2587 5382)												0													49	47	48					12																	53663130		2203	4300	6503	SO:0001583	missense	0			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.404C>A	12.37:g.53663130C>A	ENSP00000257934:p.Ala135Asp			Missense_Mutation	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.A135D	ENST00000257934.4	37	c.404	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937569	0.52972	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.12039	2.72;2.72	4.89	1.89	0.25635	.	0.420058	0.25192	N	0.032448	T	0.17323	0.0416	M	0.70595	2.14	0.27836	N	0.941283	D	0.56035	0.974	P	0.46585	0.521	T	0.08953	-1.0697	10	0.62326	D	0.03	.	5.4832	0.16735	0.0:0.5893:0.1508:0.26	.	135	Q14674	ESPL1_HUMAN	D	135	ENSP00000257934:A135D;ENSP00000449831:A135D	ENSP00000257934:A135D	A	+	2	0	ESPL1	51949397	0.736000	0.28164	0.993000	0.49108	0.737000	0.42083	0.376000	0.20535	0.776000	0.33473	0.561000	0.74099	GCT	ESPL1	-	NULL	ENSG00000135476		0.617	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0	13	0	C	NM_012291		53663130	1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	missense	40.00	9	6	SNP	0.878	A	A	53663130	C	A	53663130	3	1	164	1	0	0	0	0	1	0	0	0	5269	797	28	3	410	3	ESPL1	12	53663130	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	46933651	53663130	80188765	102	41649											
R3HDM2	22864	genome.wustl.edu	37	chr12	57663120	57663120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccaggctgctgggatGgctgaggcagctgctgacca	7	9	14	11	0	1	2	0	2	1	0	1	3	1	3	2	4	4	6	2	4	1	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr12:57663120G>T	ENST00000347140.3	-	16	2048	c.1658C>A	c.(1657-1659)cCa>cAa	p.P553Q	R3HDM2_ENST00000358907.2_Missense_Mutation_p.P553Q|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P280Q|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P587Q|R3HDM2_ENST00000546843.1_5'Flank|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Missense_Mutation_p.P567Q|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P248Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	553	Gln-rich.					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						CTGCTGGGATGGCTGAGGCAG	0.502																																																	0													79	84	83					12																	57663120		2203	4300	6503	SO:0001583	missense	0			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.1658C>A	12.37:g.57663120G>T	ENSP00000317903:p.Pro553Gln		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.P553Q	ENST00000347140.3	37	c.1658	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965786	0.53507	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.0	5.0	0.66597	.	0.116551	0.64402	D	0.000020	T	0.39655	0.1086	L	0.54323	1.7	0.44227	D	0.997064	B;B;B;B	0.11235	0.001;0.004;0.004;0.003	B;B;B;B	0.12156	0.001;0.004;0.004;0.007	T	0.22417	-1.0217	10	0.49607	T	0.09	-2.3519	13.1777	0.59637	0.0:0.0:0.8398:0.1602	.	587;567;553;280	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	Q	280;280;553;567;553;248;318;587	ENSP00000409146:P280Q;ENSP00000377400:P280Q;ENSP00000317903:P553Q;ENSP00000385839:P567Q;ENSP00000351784:P553Q;ENSP00000408536:P248Q;ENSP00000394676:P318Q;ENSP00000385169:P587Q	ENSP00000317903:P553Q	P	-	2	0	R3HDM2	55949387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.557000	0.60782	2.753000	0.94483	0.655000	0.94253	CCA	R3HDM2	-	NULL	ENSG00000179912		0.502	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2	-	0	70	0	G	NM_014925		57663120	-1	tier1	-	no_errors	ENST00000347140	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	57663120	G	T	57663120	3	4	164	1	0	0	0	0	1	0	0	0	12933	1348	47	3	1308	3	R3HDM2	12	57663120	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	3999990	57663120	76188775	103	41650											
CYP27B1	1594	genome.wustl.edu	37	chr12	58158631	58158631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagtgggtcaggtgcgccCcagactccaggtccttctcg	6	8	14	13	2	2	1	1	0	1	1	5	2	4	2	4	4	1	0	4	4	1	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr12:58158631C>A	ENST00000228606.4	-	5	1078	c.869G>T	c.(868-870)gGg>gTg	p.G290V	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	290					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)	p.G290E(1)		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)	CAGGTGCGCCCCAGACTCCAG	0.627																																																	1	Substitution - Missense(1)	central_nervous_system(1)											97	91	93					12																	58158631		2203	4300	6503	SO:0001583	missense	0			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.869G>T	12.37:g.58158631C>A	ENSP00000228606:p.Gly290Val		B2RC61|Q548T3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G290V	ENST00000228606.4	37	c.869	CCDS8954.1	12	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274056	0.59649	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.66099	-0.19;-0.19	4.45	4.45	0.53987	.	0.055104	0.64402	D	0.000001	T	0.64605	0.2613	L	0.56396	1.775	0.80722	D	1	B	0.32467	0.372	B	0.41894	0.369	T	0.61456	-0.7059	10	0.23302	T	0.38	.	16.0093	0.80385	0.0:1.0:0.0:0.0	.	290	O15528	CP27B_HUMAN	V	290;55	ENSP00000228606:G290V;ENSP00000449472:G55V	ENSP00000228606:G290V	G	-	2	0	CYP27B1	56444898	0.976000	0.34144	0.627000	0.29227	0.387000	0.30353	2.618000	0.46393	2.319000	0.78375	0.561000	0.74099	GGG	CYP27B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000111012		0.627	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27B1	HGNC	protein_coding	OTTHUMT00000409248.1		0	43	0	C	NM_000785		58158631	-1			no_errors	ENST00000228606	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	58158631	C	A	58158631	3	1	164	1	0	0	0	0	1	0	0	0	4168	623	22	3	677	3	CYP27B1	12	58158631	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	495511	58158631	75693264	104	41651											
MON2	23041	genome.wustl.edu	37	chr12	62887805	62887805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ctattcagagactcatgtcaCatgaagtcgtgtctgaggta	11	12	10	8	1	4	3	3	2	1	1	5	4	4	3	0	1	0	1	0	1	3	3	rs375291950		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr12:62887805C>A	ENST00000393632.2	+	3	677	c.286C>A	c.(286-288)Cat>Aat	p.H96N	MON2_ENST00000552738.1_Missense_Mutation_p.H96N|MON2_ENST00000393629.2_Missense_Mutation_p.H96N|MON2_ENST00000552115.1_Missense_Mutation_p.H96N|MON2_ENST00000549378.1_Intron|MON2_ENST00000393630.3_Missense_Mutation_p.H96N|MON2_ENST00000280379.6_Missense_Mutation_p.H96N|MON2_ENST00000546600.1_Missense_Mutation_p.H96N	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	96					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)		ACTCATGTCACATGAAGTCGT	0.388																																																	0													102	90	94					12																	62887805		2203	4300	6503	SO:0001583	missense	0				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.286C>A	12.37:g.62887805C>A	ENSP00000377252:p.His96Asn		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold	p.H96N	ENST00000393632.2	37	c.286	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034279	0.75617	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.65916	-0.09;-0.18;-0.18;-0.09;-0.09;-0.18;1.51	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	M	0.73598	2.24	0.80722	D	1	P;P;P;P	0.52316	0.952;0.725;0.508;0.846	P;P;B;P	0.47299	0.475;0.543;0.173;0.452	T	0.72110	-0.4389	9	.	.	.	-14.4243	19.4482	0.94857	0.0:1.0:0.0:0.0	.	96;96;96;96	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	N	96;96;96;96;24;96;96;96	ENSP00000377252:H96N;ENSP00000377250:H96N;ENSP00000280379:H96N;ENSP00000447407:H96N;ENSP00000449215:H96N;ENSP00000377249:H96N;ENSP00000446635:H96N	.	H	+	1	0	MON2	61174072	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.677000	0.91161	0.591000	0.81541	CAT	MON2	-	superfamily_ARM-type_fold	ENSG00000061987		0.388	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	-	0	50	0	C	NM_015026		62887805	1	tier1	-	no_errors	ENST00000393630	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A	A	62887805	C	A	62887805	3	1	164	1	0	0	0	0	1	0	0	0	9738	478	17	3	296	3	MON2	12	62887805	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	4729174	62887805	70964090	105	41652											
ZNF140	7699	genome.wustl.edu	37	chr12	133682650	133682650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gtgcctccaacctcactcgaCatcaaagaattcacatagga	14	8	6	13	1	3	1	3	0	0	1	5	3	4	2	3	1	2	0	3	1	4	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr12:133682650C>T	ENST00000355557.2	+	5	2070	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Missense_Mutation_p.H160Y	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		CCTCACTCGACATCAAAGAAT	0.418																																																	0													43	44	44					12																	133682650		2203	4300	6503	SO:0001583	missense	0			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.787C>T	12.37:g.133682650C>T	ENSP00000347755:p.His263Tyr		D3DXJ3|Q05CP6|Q8IV75	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H263Y	ENST00000355557.2	37	c.787	CCDS9282.1	12	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208246	0.39003	.	.	ENSG00000196387	ENST00000355557;ENST00000544426;ENST00000433577	D;D	0.86769	-2.17;-2.17	3.28	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38778	N	0.001574	D	0.89798	0.6819	M	0.90082	3.085	0.80722	D	1	D	0.54772	0.968	P	0.44394	0.448	D	0.92649	0.6131	10	0.87932	D	0	.	14.4971	0.67698	0.0:1.0:0.0:0.0	.	263	P52738	ZN140_HUMAN	Y	263;160;82	ENSP00000347755:H263Y;ENSP00000445411:H160Y	ENSP00000347755:H263Y	H	+	1	0	ZNF140	132192723	1.000000	0.71417	0.993000	0.49108	0.203000	0.24098	6.937000	0.75898	2.134000	0.65973	0.557000	0.71058	CAT	ZNF140	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196387		0.418	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF140	HGNC	protein_coding	OTTHUMT00000397169.1	-	0	33	0	C	NM_003440		133682650	1	tier1	-	no_errors	ENST00000355557	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	T	T	133682650	C	T	133682650	3	4	164	1	0	0	0	0	1	0	0	0	17777	478	17	3	801	3	ZNF140	12	133682650	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	70794845	133682650	169245	106	41653											
NAA16	79612	genome.wustl.edu	37	chr13	41894959	41894959	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaccttgaaggttaccGagtaagtacttcattcttaa	13	12	9	7	1	2	2	1	1	1	1	2	5	2	2	2	1	2	3	2	1	5	7			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr13:41894959G>T	ENST00000379406.3	+	4	725	c.401G>T	c.(400-402)cGa>cTa	p.R134L	NAA16_ENST00000403412.3_Splice_Site_p.R134L|NAA16_ENST00000379367.3_Splice_Site_p.R134L	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	134					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						GAAGGTTACCGAGTAAGTACT	0.358																																																	0													49	48	48					13																	41894959		2203	4300	6503	SO:0001630	splice_region_variant	0			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.402+1G>T	13.37:g.41894959G>T			B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R134L	ENST00000379406.3	37	c.401	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748174	0.69533	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.53640	0.61;0.61;0.61	4.99	4.99	0.66335	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.224873	0.29253	N	0.012684	T	0.50103	0.1596	N	0.16130	0.375	0.58432	D	0.999996	P;D;P	0.76494	0.659;0.999;0.91	P;D;P	0.74023	0.642;0.982;0.618	T	0.39292	-0.9621	10	0.12103	T	0.63	-6.7463	18.4393	0.90660	0.0:0.0:1.0:0.0	.	134;134;134	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	L	134	ENSP00000368674:R134L;ENSP00000368716:R134L;ENSP00000386103:R134L	ENSP00000368674:R134L	R	+	2	0	NAA16	40792959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.196000	0.77805	2.588000	0.87417	0.655000	0.94253	CGA	NAA16	-	pirsf_NatA_aux_su,pfscan_TPR-contain_dom	ENSG00000172766		0.358	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2		0	47	0	G	NM_018527	Missense_Mutation	41894959	1			no_errors	ENST00000379406	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	41894959	G	T	41894959	5	4	164	1	0	0	0	0	0	0	1	0	10157	1072	37	2	415	2	NAA16	13	41894959	Splice_Site	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09		41894959	73274919	107	41654											
CATSPERB	79820	genome.wustl.edu	37	chr14	92074645	92074645	+	Missense_Mutation	SNP	A	A	T	1	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	aaaagttatttacctttgacAtgtgaaacatgtttcttggt	12	17	7	5	0	1	2	0	2	1	0	1	2	1	2	1	1	2	2	1	1	5	6			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr14:92074645A>T	ENST00000256343.3	-	22	2858	c.2702T>A	c.(2701-2703)aTg>aAg	p.M901K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	901					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TACCTTTGACATGTGAAACAT	0.303																																																	0													108	113	111					14																	92074645		2203	4299	6502	SO:0001583	missense	0			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2702T>A	14.37:g.92074645A>T	ENSP00000256343:p.Met901Lys		A0AV51	Missense_Mutation	SNP	superfamily_Sialidases	p.M901K	ENST00000256343.3	37	c.2702	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	A	0	-2.694945	0.00098	.	.	ENSG00000133962	ENST00000256343	T	0.39056	1.1	5.28	-0.409	0.12378	.	0.871488	0.09944	N	0.735511	T	0.09158	0.0226	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	10	0.09338	T	0.73	-2.0981	3.7092	0.08413	0.4003:0.1588:0.0:0.4409	.	901	Q9H7T0	CTSRB_HUMAN	K	901	ENSP00000256343:M901K	ENSP00000256343:M901K	M	-	2	0	CATSPERB	91144398	0.000000	0.05858	0.216000	0.23742	0.102000	0.19082	-0.620000	0.05565	0.066000	0.16515	-1.158000	0.01797	ATG	CATSPERB	-	NULL	ENSG00000133962		0.303	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	-	0	79	0	A	NM_024764		92074645	-1	tier1	-	no_errors	ENST00000256343	ensembl	human	known	74_37	missense	51.35	18	19	SNP	0.031	T	T	92074645	A	T	92074645	3	4	164	1	0	0	0	0	1	0	0	0	2698	217	8	5	672	5	CATSPERB	14	92074645	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09		92074645	15274895	108	41655											
SERPINA6	866	genome.wustl.edu	37	chr14	94780486	94780486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catagctgttgatctgtctgCtggctgttgcccagtcctgg	4	14	12	11	0	2	1	0	1	2	0	3	1	3	1	2	2	3	5	2	2	1	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr14:94780486C>T	ENST00000341584.3	-	2	646	c.500G>A	c.(499-501)aGc>aAc	p.S167N		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	167					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)	p.S167N(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GATCTGTCTGCTGGCTGTTGC	0.493																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											133	133	133					14																	94780486		2203	4300	6503	SO:0001583	missense	0			J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.500G>A	14.37:g.94780486C>T	ENSP00000342850:p.Ser167Asn		A8K456|Q7Z2Q9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S167N	ENST00000341584.3	37	c.500	CCDS9924.1	14	.	.	.	.	.	.	.	.	.	.	C	7.367	0.626119	0.14257	.	.	ENSG00000170099	ENST00000341584	D	0.84370	-1.84	5.05	3.16	0.36331	Serpin domain (3);	0.851133	0.10423	N	0.676453	D	0.84097	0.5397	M	0.74258	2.255	0.09310	N	1	B	0.27166	0.17	B	0.35859	0.212	T	0.75093	-0.3439	10	0.46703	T	0.11	.	3.4587	0.07524	0.0:0.4549:0.225:0.3201	.	167	P08185	CBG_HUMAN	N	167	ENSP00000342850:S167N	ENSP00000342850:S167N	S	-	2	0	SERPINA6	93850239	0.000000	0.05858	0.498000	0.27564	0.434000	0.31775	0.106000	0.15354	1.365000	0.46057	0.655000	0.94253	AGC	SERPINA6	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000170099		0.493	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA6	HGNC	protein_coding	OTTHUMT00000413065.1		0	49	0	C	NM_001756		94780486	-1			no_errors	ENST00000341584	ensembl	human	known	74_37	missense	6.98	39	3	SNP	0.076	T	T	94780486	C	T	94780486	3	4	164	1	0	0	0	0	1	0	0	0	14138	797	28	3	733	3	SERPINA6	14	94780486	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	2705841	94780486	12569054	109	41656											
DICER1	23405	genome.wustl.edu	37	chr14	95570306	95570306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttggtcatgattttctaGagaggaggttctattagcac	10	15	10	6	0	3	2	1	1	2	1	3	4	3	3	0	3	1	2	0	3	3	7	rs375211466		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr14:95570306G>T	ENST00000526495.1	-	23	3718	c.3427C>A	c.(3427-3429)Cta>Ata	p.L1143I	DICER1_ENST00000541352.1_Missense_Mutation_p.L1143I|DICER1_ENST00000393063.1_Missense_Mutation_p.L1143I|DICER1_ENST00000343455.3_Missense_Mutation_p.L1143I|DICER1_ENST00000556045.1_Missense_Mutation_p.L41I|DICER1_ENST00000527414.1_Missense_Mutation_p.L1143I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1143					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)		TGATTTTCTAGAGAGGAGGTT	0.418			"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								G	ILE/LEU,ILE/LEU,ILE/LEU	1,4405	2.1+/-5.4	0,1,2202	50	54	53		3427,3427,3427	2.6	1	14		53	0,8600		0,0,4300	no	missense,missense,missense	DICER1	NM_177438.2,NM_030621.3,NM_001195573.1	5,5,5	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign,benign,benign	1143/1923,1143/1923,1143/1830	95570306	1,13005	2203	4300	6503	SO:0001583	missense	0	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.3427C>A	14.37:g.95570306G>T	ENSP00000437256:p.Leu1143Ile		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.L1143I	ENST00000526495.1	37	c.3427	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	G	9.910	1.209148	0.22205	2.27E-4	0.0	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.86366	0.44;0.44;0.44;0.44;-2.11;0.75	4.71	2.64	0.31445	.	1.390360	0.04192	N	0.328455	T	0.76521	0.3999	N	0.08118	0	0.22666	N	0.998875	B;B	0.13145	0.007;0.002	B;B	0.14023	0.01;0.003	T	0.64158	-0.6473	10	0.44086	T	0.13	-0.3692	8.8127	0.34976	0.0:0.3102:0.5686:0.1212	.	41;1143	B3KRG4;Q9UPY3	.;DICER_HUMAN	I	1143;1143;1143;1143;41;1143	ENSP00000343745:L1143I;ENSP00000437256:L1143I;ENSP00000376783:L1143I;ENSP00000435681:L1143I;ENSP00000451041:L41I;ENSP00000444719:L1143I	ENSP00000343745:L1143I	L	-	1	2	DICER1	94640059	0.991000	0.36638	0.991000	0.47740	0.990000	0.78478	0.672000	0.25187	2.165000	0.68154	0.561000	0.74099	CTA	DICER1	-	NULL	ENSG00000100697		0.418	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1		0	44	0	G			95570306	-1			no_errors	ENST00000343455	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.976	T	T	95570306	G	T	95570306	3	4	164	1	0	0	0	0	1	0	0	0	4535	933	33	3	2369	3	DICER1	14	95570306	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	789820	95570306	11779234	110	41657											
TRPM1	4308	genome.wustl.edu	37	chr15	31325061	31325061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatcatgaatgtggaaatgGccacgagatctgtgatgttc	12	11	11	7	1	2	3	1	2	1	1	3	5	2	4	1	2	0	1	1	2	3	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr15:31325061G>T	ENST00000256552.6	-	22	2930	c.2783C>A	c.(2782-2784)gCc>gAc	p.A928D	TRPM1_ENST00000542188.1_Missense_Mutation_p.A945D|TRPM1_ENST00000397795.2_Missense_Mutation_p.A906D|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGTGGAAATGGCCACGAGATC	0.468																																																	0													171	163	165					15																	31325061		1957	4144	6101	SO:0001583	missense	0			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.2783C>A	15.37:g.31325061G>T	ENSP00000256552:p.Ala928Asp			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.A945D	ENST00000256552.6	37	c.2834	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022929	0.93462	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	D;D;D	0.98777	-5.13;-5.13;-5.13	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.99323	1.0907	10	0.87932	D	0	-27.6228	19.5857	0.95489	0.0:0.0:1.0:0.0	.	900;906	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	D	906;945;928;906	ENSP00000380897:A906D;ENSP00000437849:A945D;ENSP00000256552:A928D	ENSP00000256552:A928D	A	-	2	0	TRPM1	29112353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.823000	0.86660	2.616000	0.88540	0.643000	0.83706	GCC	TRPM1	-	pfam_Ion_trans_dom	ENSG00000134160		0.468	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	-	0	75	0	G	NM_002420		31325061	-1	tier1	-	no_errors	ENST00000542188	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	31325061	G	T	31325061	3	4	164	1	0	0	0	0	1	0	0	0	16633	1203	42	3	2122	3	TRPM1	15	31325061	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09		31325061	71206331	111	41658											
RYR3	6263	genome.wustl.edu	37	chr15	34105086	34105086	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacccagctgtaaaatGgcaactgaacctctacaagg	14	8	9	10	0	1	3	0	3	1	0	1	3	1	3	2	2	4	3	2	2	6	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr15:34105086G>A	ENST00000389232.4	+	73	10350	c.10280G>A	c.(10279-10281)tGg>tAg	p.W3427*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.W3422*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3427					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)		GCTGTAAAATGGCAACTGAAC	0.428																																																	0													89	86	87					15																	34105086		1883	4121	6004	SO:0001587	stop_gained	0				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.10280G>A	15.37:g.34105086G>A	ENSP00000373884:p.Trp3427*		O15175|Q15412	Nonsense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.W3427*	ENST00000389232.4	37	c.10280	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	52	19.253078	0.99917	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1742	0.89756	0.0:0.0:1.0:0.0	.	.	.	.	X	3427;3427;3422	.	ENSP00000354735:W3422X	W	+	2	0	RYR3	31892378	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.569000	0.98170	2.581000	0.87130	0.655000	0.94253	TGG	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.428	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	83	0	G			34105086	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	nonsense	34.69	32	17	SNP	1.000	A	A	34105086	G	A	34105086	4	1	164	1	0	0	0	0	0	1	0	0	13815	1357	47	3	10570	3	RYR3	15	34105086	Nonsense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	2780025	34105086	68426306	112	41659											
BAHD1	22893	genome.wustl.edu	37	chr15	40750706	40750706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccttcccatgctgagttcgGgcctcactggccgccgagag	5	8	12	16	3	1	2	1	1	0	1	3	3	2	2	5	2	1	2	5	2	0	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr15:40750706G>T	ENST00000416165.1	+	2	114	c.43G>T	c.(43-45)Ggc>Tgc	p.G15C	BAHD1_ENST00000560846.1_Missense_Mutation_p.G15C|BAHD1_ENST00000561234.1_Missense_Mutation_p.G15C	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	15					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)		GCTGAGTTCGGGCCTCACTGG	0.607																																																	0													93	91	91					15																	40750706		2203	4300	6503	SO:0001583	missense	0			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.43G>T	15.37:g.40750706G>T	ENSP00000396976:p.Gly15Cys		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.G15C	ENST00000416165.1	37	c.43	CCDS10058.1	15	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043739	0.55003	.	.	ENSG00000140320	ENST00000416165	T	0.20200	2.09	5.14	4.18	0.49190	.	0.091963	0.46758	D	0.000266	T	0.25901	0.0631	N	0.08118	0	0.30296	N	0.789906	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.72075	0.976;0.946;0.976	T	0.12400	-1.0549	10	0.56958	D	0.05	-23.0064	15.3115	0.74035	0.0:0.1513:0.8487:0.0	.	15;15;15	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	C	15	ENSP00000396976:G15C	ENSP00000396976:G15C	G	+	1	0	BAHD1	38537998	0.995000	0.38212	0.844000	0.33320	0.965000	0.64279	2.385000	0.44371	2.668000	0.90789	0.655000	0.94253	GGC	BAHD1	-	NULL	ENSG00000140320		0.607	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAHD1	HGNC	protein_coding	OTTHUMT00000252248.1	-	0	66	0	G	NM_014952		40750706	1	tier1	-	no_errors	ENST00000416165	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.710	T	T	40750706	G	T	40750706	3	4	164	1	0	0	0	0	1	0	0	0	1298	1232	43	3	45	3	BAHD1	15	40750706	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	6645620	40750706	61780686	113	41660											
UBR1	197131	genome.wustl.edu	37	chr15	43367261	43367261	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtgtctccacagtcacaGaaccctcctccagtagaagt	10	10	7	14	0	3	2	1	0	2	2	6	2	5	2	4	0	1	1	4	0	3	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr15:43367261G>A	ENST00000290650.4	-	4	522	c.444C>T	c.(442-444)ttC>ttT	p.F148F	UBR1_ENST00000382177.2_Silent_p.F148F	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	148					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)		CACAGTCACAGAACCCTCCTC	0.373																																																	0													163	173	170					15																	43367261		2203	4299	6502	SO:0001819	synonymous_variant	0				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.444C>T	15.37:g.43367261G>A			O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.F148	ENST00000290650.4	37	c.444	CCDS10091.1	15																																																																																			UBR1	-	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	ENSG00000159459		0.373	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	-	0	29	0	G	NM_174916		43367261	-1	tier1	-	no_errors	ENST00000290650	ensembl	human	known	74_37	silent	39.66	35	23	SNP	0.999	A	A	43367261	G	A	43367261	2	1	164	1	0	0	0	0	0	0	0	1	16950	933	33	3		3	UBR1	15	43367261	Silent	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	2616555	43367261	59164131	114	41661											
SPG11	80208	genome.wustl.edu	37	chr15	44887495	44887495	+	Missense_Mutation	SNP	T	T	A	0	1	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	acctctgatgagagttttgcTcttttgtcttgttaataatg	8	19	8	6	0	3	2	0	2	3	1	3	3	3	2	1	0	1	3	1	0	2	7			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr15:44887495T>A	ENST00000261866.7	-	26	4613	c.4597A>T	c.(4597-4599)Agc>Tgc	p.S1533C	SPG11_ENST00000427534.2_Missense_Mutation_p.S1533C|SPG11_ENST00000535302.2_Missense_Mutation_p.S1533C|SPG11_ENST00000558319.1_Missense_Mutation_p.S1533C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1533					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)		AGAGTTTTGCTCTTTTGTCTT	0.403																																																	0													113	110	111					15																	44887495		2198	4298	6496	SO:0001583	missense	0				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.4597A>T	15.37:g.44887495T>A	ENSP00000261866:p.Ser1533Cys		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.S1533C	ENST00000261866.7	37	c.4597	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	T	13.86	2.364366	0.41902	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.79845	-1.31;-1.31;-1.31	5.53	5.53	0.82687	.	0.341466	0.35291	N	0.003319	T	0.71829	0.3386	L	0.35723	1.085	0.80722	D	1	B;B;B	0.18461	0.009;0.028;0.009	B;B;B	0.20955	0.016;0.032;0.016	T	0.67542	-0.5644	10	0.38643	T	0.18	.	10.7346	0.46117	0.1413:0.0:0.0:0.8587	.	1533;1533;1533	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	C	1533	ENSP00000261866:S1533C;ENSP00000445278:S1533C;ENSP00000396110:S1533C	ENSP00000261866:S1533C	S	-	1	0	SPG11	42674787	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	1.880000	0.39628	2.101000	0.63845	0.533000	0.62120	AGC	SPG11	-	NULL	ENSG00000104133		0.403	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	-	0	40	0	T			44887495	-1	tier1	-	no_errors	ENST00000261866	ensembl	human	known	74_37	missense	19.64	45	11	SNP	0.999	A	A	44887495	T	A	44887495	3	1	164	1	0	0	0	0	1	0	0	0	15088	1551	54	5	2794	5	SPG11	15	44887495	Missense_Mutation	SNP	T	TCGA-VR-A8ER-01A-11D-A36J-09	1520234	44887495	57643897	115	41662											
LEO1	123169	genome.wustl.edu	37	chr15	52244058	52244058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccttaatcatttctgtgcGttggcattcaggatcacgac	9	14	8	10	2	4	0	3	0	1	0	4	2	4	1	1	2	2	2	1	2	2	5			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr15:52244058G>A	ENST00000299601.5	-	9	1654	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	LEO1_ENST00000315141.5_Missense_Mutation_p.R472C	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	532					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		ATTTCTGTGCGTTGGCATTCA	0.418																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													203	166	179					15																	52244058		2195	4293	6488	SO:0001583	missense	0			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1594C>T	15.37:g.52244058G>A	ENSP00000299601:p.Arg532Cys		Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.R532C	ENST00000299601.5	37	c.1594	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	.	23.5	4.428363	0.83667	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.63	5.63	0.86233	.	0.047340	0.85682	D	0.000000	T	0.72431	0.3459	M	0.66439	2.03	0.80722	D	1	P;B	0.51933	0.949;0.216	P;B	0.51415	0.669;0.044	T	0.74506	-0.3643	9	0.59425	D	0.04	.	19.6961	0.96026	0.0:0.0:1.0:0.0	.	472;532	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	C	532;510;472	.	ENSP00000299601:R532C	R	-	1	0	LEO1	50031350	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.638000	0.83328	2.654000	0.90174	0.650000	0.86243	CGC	LEO1	-	pfam_Leo1	ENSG00000166477		0.418	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	-	0	51	0	G	NM_138792		52244058	-1	tier1	-	no_errors	ENST00000299601	ensembl	human	known	74_37	missense	36.17	30	17	SNP	1.000	A	A	52244058	G	A	52244058	3	1	164	1	0	0	0	0	1	0	0	0	8754	1145	40	1	422	1	LEO1	15	52244058	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	7356563	52244058	50287334	116	41663											
MYO5C	55930	genome.wustl.edu	37	chr15	52510733	52510733	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	caccctgttttccaaagtgaGccgggatgcttcctgccgga	7	10	11	13	2	0	1	0	1	0	0	2	3	2	3	5	2	3	2	5	2	1	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr15:52510733G>T	ENST00000261839.7	-	32	4098	c.3937C>A	c.(3937-3939)Ctc>Atc	p.L1313I		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1313						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)		TCCAAAGTGAGCCGGGATGCT	0.448																																																	0													80	76	77					15																	52510733		1897	4123	6020	SO:0001583	missense	0			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.3937C>A	15.37:g.52510733G>T	ENSP00000261839:p.Leu1313Ile		Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1313I	ENST00000261839.7	37	c.3937	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800658	0.50315	.	.	ENSG00000128833	ENST00000261839	T	0.38401	1.14	5.66	5.66	0.87406	.	0.075522	0.51477	D	0.000095	T	0.36413	0.0966	N	0.19112	0.55	0.80722	D	1	D	0.56968	0.978	P	0.50590	0.645	T	0.09058	-1.0692	10	0.44086	T	0.13	.	17.9318	0.88999	0.0:0.0:1.0:0.0	.	1313	Q9NQX4	MYO5C_HUMAN	I	1313	ENSP00000261839:L1313I	ENSP00000261839:L1313I	L	-	1	0	MYO5C	50298025	1.000000	0.71417	0.015000	0.15790	0.405000	0.30901	3.595000	0.54016	2.682000	0.91365	0.655000	0.94253	CTC	MYO5C	-	NULL	ENSG00000128833		0.448	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1		0	46	0	G	NM_018728		52510733	-1			no_errors	ENST00000261839	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.882	T	T	52510733	G	T	52510733	3	4	164	1	0	0	0	0	1	0	0	0	10118	971	34	3	1331	3	MYO5C	15	52510733	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	266675	52510733	50020659	117	41664											
OSTBETA	123264	genome.wustl.edu	37	chr15	65342383	65342383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccggagacccagccggtaCtgtggtaccccaggagctgc	7	6	13	15	2	0	1	0	0	0	1	1	3	1	2	5	4	5	3	5	4	2	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr15:65342383C>T	ENST00000334287.2	+	2	362	c.41C>T	c.(40-42)aCt>aTt	p.T14I		NM_178859.3	NP_849190.2	Q86UW2	OSTB_HUMAN	solute carrier family 51, beta subunit	14					bile acid and bile salt transport (GO:0015721)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	CCAGCCGGTACTGTGGTACCC	0.612																																																	0													94	86	89					15																	65342383		2109	4101	6210	SO:0001583	missense	0				CCDS10199.1	15q22.31	2013-05-22			ENSG00000186198	ENSG00000186198		"Solute carriers"	29956	protein-coding gene	gene with protein product	"organic solute transporter beta subunit"	612085				12719432, 20538072	Standard	NM_178859		Approved	OSTbeta	uc002aog.3	Q86UW2	OTTHUMG00000133116	ENST00000334287.2:c.41C>T	15.37:g.65342383C>T	ENSP00000335292:p.Thr14Ile		Q3SYF5	Missense_Mutation	SNP	NULL	p.T14I	ENST00000334287.2	37	c.41	CCDS10199.1	15	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646068	0.67358	.	.	ENSG00000186198	ENST00000334287	.	.	.	4.61	3.68	0.42216	.	0.836117	0.11062	N	0.603813	T	0.50684	0.1630	L	0.57536	1.79	0.09310	N	1	P	0.51351	0.944	P	0.52957	0.714	T	0.37709	-0.9694	9	0.62326	D	0.03	-2.8454	10.0473	0.42195	0.0:0.9005:0.0:0.0995	.	14	Q86UW2	OSTB_HUMAN	I	14	.	ENSP00000335292:T14I	T	+	2	0	AC013553.1	63129436	0.002000	0.14202	0.006000	0.13384	0.280000	0.26924	1.479000	0.35453	2.502000	0.84385	0.591000	0.81541	ACT	SLC51B	-	NULL	ENSG00000186198		0.612	SLC51B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC51B	HGNC	protein_coding	OTTHUMT00000256783.1	-	0	51	0	C	NM_178859		65342383	1	tier1	-	no_errors	ENST00000334287	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.004	T	T	65342383	C	T	65342383	3	4	164	1	0	0	0	0	1	0	0	0	11334	565	20	3	43	3	OSTBETA	15	65342383	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	12831650	65342383	37189009	118	41665											
THSD4	79875	genome.wustl.edu	37	chr15	72050278	72050278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccggagtgcggacacgctCggtggtgtgcatgaccaacc	7	6	16	12	4	0	1	0	1	0	0	1	3	0	3	3	5	3	2	3	5	1	0			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr15:72050278C>T	ENST00000355327.3	+	15	2587	c.2453C>T	c.(2452-2454)tCg>tTg	p.S818L	THSD4_ENST00000261862.6_Missense_Mutation_p.S818L|THSD4_ENST00000357769.4_Missense_Mutation_p.S458L|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	818	TSP type-1 4. {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						CGGACACGCTCGGTGGTGTGC	0.642																																																	0													44	50	48					15																	72050278		2112	4210	6322	SO:0001583	missense	0			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.2453C>T	15.37:g.72050278C>T	ENSP00000347484:p.Ser818Leu		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.S818L	ENST00000355327.3	37	c.2453	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519942	0.64634	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.60797	0.16;0.16;0.16	5.18	4.27	0.50696	.	.	.	.	.	T	0.51381	0.1671	L	0.51914	1.62	0.41581	D	0.988744	P;D	0.60160	0.95;0.987	B;P	0.46299	0.265;0.511	T	0.49224	-0.8962	9	0.12103	T	0.63	.	11.5429	0.50677	0.0:0.9134:0.0:0.0866	.	458;818	B4DR13;Q6ZMP0	.;THSD4_HUMAN	L	818;818;458	ENSP00000347484:S818L;ENSP00000261862:S818L;ENSP00000350413:S458L	ENSP00000261862:S818L	S	+	2	0	THSD4	69837332	0.984000	0.35163	1.000000	0.80357	0.566000	0.35808	3.902000	0.56310	1.422000	0.47177	-0.140000	0.14226	TCG	THSD4	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000187720		0.642	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	-	0	24	0	C	NM_024817		72050278	1	tier1	-	no_errors	ENST00000261862	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.969	T	T	72050278	C	T	72050278	3	4	164	1	0	0	0	0	1	0	0	0	15925	893	31	1	2507	1	THSD4	15	72050278	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	6707895	72050278	30481114	119	41666											
IQGAP1	8826	genome.wustl.edu	37	chr15	90931587	90931587	+	Missense_Mutation	SNP	A	A	G	1	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	gtccgccatgtccgccgcagAcgaggttgacgggctgggcg	5	6	17	13	6	0	2	0	1	0	1	2	3	2	2	4	3	0	3	4	3	0	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr15:90931587A>G	ENST00000268182.5	+	1	138	c.14A>G	c.(13-15)gAc>gGc	p.D5G	IQGAP1_ENST00000560738.1_Missense_Mutation_p.D5G	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	5					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)			TCCGCCGCAGACGAGGTTGAC	0.706																																																	0													11	14	13					15																	90931587		2111	4155	6266	SO:0001583	missense	0			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.14A>G	15.37:g.90931587A>G	ENSP00000268182:p.Asp5Gly		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.D5G	ENST00000268182.5	37	c.14	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	A	14.34	2.504959	0.44558	.	.	ENSG00000140575	ENST00000268182	T	0.02395	4.31	3.36	3.36	0.38483	.	1.074220	0.07120	N	0.843763	T	0.02970	0.0088	N	0.22421	0.69	0.23747	N	0.996958	B	0.23058	0.079	B	0.19391	0.025	T	0.40021	-0.9585	10	0.66056	D	0.02	-7.2639	8.0581	0.30617	1.0:0.0:0.0:0.0	.	5	P46940	IQGA1_HUMAN	G	5	ENSP00000268182:D5G	ENSP00000268182:D5G	D	+	2	0	IQGAP1	88732591	0.998000	0.40836	0.901000	0.35422	0.436000	0.31835	4.535000	0.60629	1.405000	0.46838	0.260000	0.18958	GAC	IQGAP1	-	NULL	ENSG00000140575		0.706	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	-	0	15	0	A	NM_003870		90931587	1	tier1	-	no_errors	ENST00000268182	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.997	G	G	90931587	A	G	90931587	3	3	164	1	0	0	0	0	1	0	0	0	7841	275	10	4	16	4	IQGAP1	15	90931587	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	18881309	90931587	11599805	120	41667											
CACNA1H	8912	genome.wustl.edu	37	chr16	1256131	1256131	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gagatcgtggggcaggcggaCggtggcttgtctgtgctgcg	4	9	20	8	4	1	1	0	0	1	1	2	3	1	2	0	6	2	3	0	6	0	1	rs59636120	byFrequency	TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr16:1256131C>T	ENST00000348261.5	+	12	2879	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D	CACNA1H_ENST00000565831.1_Silent_p.D877D|CACNA1H_ENST00000358590.4_Silent_p.D877D|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	877					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)	GGCAGGCGGACGGTGGCTTGT	0.692													C|||	34	0.00678914	0.0257	0	5008	,	,		14252	0		0	False		,,,				2504	0																0								C	,	72,4052		0,72,1990	15	22	20		2631,2631	-3.4	0.2	16	dbSNP_129	20	1,8355		0,1,4177	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,73,6167	TT,TC,CC		0.012,1.7459,0.5849	,	877/2348,877/2354	1256131	73,12407	2062	4178	6240	SO:0001819	synonymous_variant	0			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.2631C>T	16.37:g.1256131C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.D877	ENST00000348261.5	37	c.2631	CCDS45375.1	16																																																																																			CACNA1H	-	pfam_Ion_trans_dom	ENSG00000196557		0.692	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1		0	21	0	C	NM_001005407		1256131	1			no_errors	ENST00000348261	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.975	T	T	1256131	C	T	1256131	2	4	164	1	0	0	0	0	0	0	0	1	2552	535	19	1		1	CACNA1H	16	1256131	Silent	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09		1256131	89098622	121	41668											
GSPT1	2935	genome.wustl.edu	37	chr16	11969646	11969646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaggtgaaacgacccatCtgagggaagtctttaaaggt	13	10	11	7	1	2	2	0	2	2	0	2	4	2	3	1	3	1	0	1	3	5	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr16:11969646C>A	ENST00000563468.1	-	12	1445	c.1419G>T	c.(1417-1419)caG>caT	p.Q473H	GSPT1_ENST00000420576.2_Missense_Mutation_p.Q473H|GSPT1_ENST00000439887.2_Missense_Mutation_p.Q610H|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Missense_Mutation_p.Q611H			P15170	ERF3A_HUMAN	G1 to S phase transition 1	473					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						AACGACCCATCTGAGGGAAGT	0.443																																																	0													84	84	84					16																	11969646		2124	4273	6397	SO:0001583	missense	0			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.1419G>T	16.37:g.11969646C>A	ENSP00000454351:p.Gln473His		J3KQG6|Q96GF2	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom	p.Q611H	ENST00000563468.1	37	c.1833	CCDS45414.1	16	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613492	0.46631	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.47528	1.33;1.32;0.84	5.26	1.1	0.20463	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	U	0.000000	T	0.45875	0.1364	M	0.76002	2.32	0.58432	D	0.999994	P;P;B	0.35107	0.484;0.484;0.098	B;B;B	0.38616	0.216;0.277;0.129	T	0.40664	-0.9551	10	0.72032	D	0.01	-8.9455	6.099	0.20037	0.0:0.6297:0.1374:0.2329	.	610;607;473	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	H	611;610;473	ENSP00000398131:Q611H;ENSP00000408399:Q610H;ENSP00000399539:Q473H	ENSP00000399539:Q473H	Q	-	3	2	GSPT1	11877147	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.557000	0.36299	0.222000	0.20900	0.467000	0.42956	CAG	GSPT1	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C	ENSG00000103342		0.443	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	GSPT1	HGNC	protein_coding	OTTHUMT00000421513.1	-	0	84	0	C	NM_002094		11969646	-1	tier1	-	no_errors	ENST00000434724	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A	A	11969646	C	A	11969646	3	1	164	1	0	0	0	0	1	0	0	0	6853	912	32	3	88	3	GSPT1	16	11969646	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	10713515	11969646	78385107	122	41669											
ACSM5	54988	genome.wustl.edu	37	chr16	20439186	20439186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttgtgcaggaggatctgaCcaggtacagcccgtctattt	8	11	12	10	1	2	1	0	1	2	0	2	3	2	3	2	3	3	3	2	3	2	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr16:20439186C>A	ENST00000331849.4	+	7	1145	c.998C>A	c.(997-999)aCc>aAc	p.T333N		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	333					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						GAGGATCTGACCAGGTACAGC	0.468																																																	0													193	169	177					16																	20439186		2203	4300	6503	SO:0001583	missense	0				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.998C>A	16.37:g.20439186C>A	ENSP00000327916:p.Thr333Asn		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.T333N	ENST00000331849.4	37	c.998	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636898	0.47049	.	.	ENSG00000183549	ENST00000331849	T	0.39997	1.05	5.01	2.93	0.34026	AMP-dependent synthetase/ligase (1);	0.444612	0.20979	N	0.082245	T	0.32071	0.0817	L	0.38649	1.16	0.28381	N	0.919547	P	0.34699	0.464	B	0.35182	0.197	T	0.28490	-1.0042	10	0.62326	D	0.03	-22.1545	9.1741	0.37100	0.0:0.6826:0.2334:0.084	.	333	Q6NUN0	ACSM5_HUMAN	N	333	ENSP00000327916:T333N	ENSP00000327916:T333N	T	+	2	0	ACSM5	20346687	0.014000	0.17966	1.000000	0.80357	0.956000	0.61745	0.110000	0.15437	1.223000	0.43536	0.555000	0.69702	ACC	ACSM5	-	pfam_AMP-dep_Synth/Lig	ENSG00000183549		0.468	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	-	0	29	0	C	NM_017888		20439186	1	tier1	-	no_errors	ENST00000331849	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.999	A	A	20439186	C	A	20439186	3	1	164	1	0	0	0	0	1	0	0	0	187	507	18	3	1020	3	ACSM5	16	20439186	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	8469540	20439186	69915567	123	41670											
NLRC5	84166	genome.wustl.edu	37	chr16	57079388	57079388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaacacatcctcctgagaGgggacaagacaagcaggtga	14	4	12	11	0	0	3	0	2	0	2	2	5	2	4	3	3	2	1	3	3	3	0			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr16:57079388G>T	ENST00000262510.6	+	21	3457	c.3232G>T	c.(3232-3234)Ggg>Tgg	p.G1078W	NLRC5_ENST00000436936.1_Missense_Mutation_p.G1078W|NLRC5_ENST00000539144.1_Missense_Mutation_p.G1078W|NLRC5_ENST00000308149.7_Missense_Mutation_p.G1078W	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1078					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.G1078>?(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCTCCTGAGAGGGGACAAGAC	0.597																																																	1	Complex(1)	NS(1)											58	54	56					16																	57079388		2198	4300	6498	SO:0001583	missense	0			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.3232G>T	16.37:g.57079388G>T	ENSP00000262510:p.Gly1078Trp		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.G1078W	ENST00000262510.6	37	c.3232	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.85|11.85	1.762885|1.762885	0.31228|0.31228	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|T	0.74315|0.78126	-0.65;-0.67;-0.83;-0.67;2.28;2.13|-1.15	3.64|3.64	0.526|0.526	0.17078|0.17078	.|.	0.502419|.	0.14979|.	N|.	0.287359|.	T|T	0.80308|0.80308	0.4599|0.4599	M|M	0.82323|0.82323	2.585|2.585	0.09310|0.09310	N|N	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.998|.	D;D;D;D|.	0.77557|.	0.99;0.988;0.981;0.963|.	T|T	0.71454|0.71454	-0.4588|-0.4588	10|7	0.87932|0.72032	D|D	0|0.01	.|.	3.6283|3.6283	0.08121|0.08121	0.2373:0.2108:0.5519:0.0|0.2373:0.2108:0.5519:0.0	.|.	1078;1078;1078;1078|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	W|M	1078;1078;1078;552;1078;585;377|830	ENSP00000262510:G1078W;ENSP00000308886:G1078W;ENSP00000389739:G1078W;ENSP00000441727:G1078W;ENSP00000441597:G585W;ENSP00000440153:G377W|ENSP00000442906:R830M	ENSP00000262510:G1078W|ENSP00000437583:R18M	G|R	+|+	1|2	0|0	NLRC5|NLRC5	55636889|55636889	0.996000|0.996000	0.38824|0.38824	0.007000|0.007000	0.13788|0.13788	0.010000|0.010000	0.07245|0.07245	2.167000|2.167000	0.42415|0.42415	0.155000|0.155000	0.19261|0.19261	0.457000|0.457000	0.33378|0.33378	GGG|AGG	NLRC5	-	NULL	ENSG00000140853		0.597	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1		0	18	0	G	NM_032206		57079388	1			no_errors	ENST00000262510	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.009	T	T	57079388	G	T	57079388	3	4	164	1	0	0	0	0	1	0	0	0	10509	1000	35	3	3306	3	NLRC5	16	57079388	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	36640202	57079388	33275365	124	41671											
VPS4A	27183	genome.wustl.edu	37	chr16	69349973	69349973	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaagaactacgaggaggcGctgcggctgtaccagcatgc	10	5	14	12	3	0	1	0	0	0	1	0	3	0	2	2	3	6	4	2	3	4	2	rs576996707		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr16:69349973G>A	ENST00000254950.11	+	2	240	c.84G>A	c.(82-84)gcG>gcA	p.A28A	RP11-343C2.11_ENST00000570054.2_Silent_p.A52A	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ACGAGGAGGCGCTGCGGCTGT	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		19930	0		0	False		,,,				2504	0																0													73	80	78					16																	69349973		2114	4239	6353	SO:0001819	synonymous_variant	0			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.84G>A	16.37:g.69349973G>A				Silent	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.A28	ENST00000254950.11	37	c.84	CCDS45517.1	16																																																																																			VPS4A	-	pfam_MIT,smart_MIT	ENSG00000132612		0.577	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3	-	0	47	0	G	NM_013245		69349973	1	tier1	-	no_errors	ENST00000254950	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.222	A	A	69349973	G	A	69349973	2	1	164	1	0	0	0	0	0	0	0	1	17261	1074	38	1		1	VPS4A	16	69349973	Silent	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	12270585	69349973	21004780	125	41672											
MLKL	197259	genome.wustl.edu	37	chr16	74729477	74729477	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccttgaagcggttcatggctGtggttaacttctcagagggc	7	12	13	9	1	2	2	2	1	1	1	3	2	2	2	1	4	2	3	1	4	2	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr16:74729477G>T	ENST00000308807.7	-	2	642	c.179C>A	c.(178-180)aCa>aAa	p.T60K	MLKL_ENST00000306247.7_Missense_Mutation_p.T60K	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						GTTCATGGCTGTGGTTAACTT	0.562																																																	0													99	96	97					16																	74729477		2198	4300	6498	SO:0001583	missense	0			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.179C>A	16.37:g.74729477G>T	ENSP00000308351:p.Thr60Lys			Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T60K	ENST00000308807.7	37	c.179	CCDS32487.1	16	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324292	0.24080	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	T;T	0.77358	-1.09;2.88	4.42	-3.79	0.04320	.	1.499060	0.03646	N	0.240367	T	0.60379	0.2264	N	0.24115	0.695	0.09310	N	1	B;B	0.30236	0.274;0.022	B;B	0.25405	0.06;0.006	T	0.45948	-0.9226	10	0.19147	T	0.46	0.9441	8.0105	0.30351	0.0884:0.0:0.234:0.6776	.	60;60	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	K	60	ENSP00000308351:T60K;ENSP00000303118:T60K	ENSP00000303118:T60K	T	-	2	0	MLKL	73286978	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.020000	0.03618	-0.350000	0.08262	-0.188000	0.12872	ACA	MLKL	-	NULL	ENSG00000168404		0.562	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLKL	HGNC	protein_coding	OTTHUMT00000436403.3		0	53	0	G	NM_152649		74729477	-1			no_errors	ENST00000308807	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	T	T	74729477	G	T	74729477	3	4	164	1	0	0	0	0	1	0	0	0	9657	1377	48	3	1307	3	MLKL	16	74729477	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	5379504	74729477	15625276	126	41673											
CDK10	8558	genome.wustl.edu	37	chr16	89761401	89761401	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagccctacaacaacctGaagcacaagttcccatggct	14	6	7	14	0	0	1	0	1	0	0	1	1	1	1	3	1	6	4	3	1	6	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr16:89761401G>T	ENST00000353379.7	+	11	898	c.855G>T	c.(853-855)ctG>ctT	p.L285L	CDK10_ENST00000505473.1_Silent_p.L214L|CDK10_ENST00000331006.8_Silent_p.L238L	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	285	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)		ACAACAACCTGAAGCACAAGT	0.622																																																	0													51	53	52					16																	89761401		2198	4300	6498	SO:0001819	synonymous_variant	0			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.855G>T	16.37:g.89761401G>T			A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L285	ENST00000353379.7	37	c.855	CCDS10984.2	16																																																																																			CDK10	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000185324		0.622	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2		0	98	0	G			89761401	1			no_errors	ENST00000353379	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.979	T	T	89761401	G	T	89761401	2	4	164	1	0	0	0	0	0	0	0	1	3132	1277	45	3		3	CDK10	16	89761401	Silent	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	15031924	89761401	593352	127	41674											
DEF8	54849	genome.wustl.edu	37	chr16	90021666	90021666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgaggaccacttctccCgccctgtggtaaggttttag	6	13	11	11	1	2	1	0	1	2	0	3	2	2	2	3	3	0	2	3	3	2	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr16:90021666C>T	ENST00000268676.7	+	4	486	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	DEF8_ENST00000567874.1_Missense_Mutation_p.R12C|DEF8_ENST00000563594.1_Missense_Mutation_p.R72C|DEF8_ENST00000569453.1_Missense_Mutation_p.R72C|DEF8_ENST00000563795.1_Missense_Mutation_p.R72C|DEF8_ENST00000570182.1_Missense_Mutation_p.R72C|DEF8_ENST00000418391.2_Missense_Mutation_p.R72C	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	133					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)		CCACTTCTCCCGCCCTGTGGT	0.632																																																	0													86	82	83					16																	90021666		2198	4300	6498	SO:0001583	missense	0			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.397C>T	16.37:g.90021666C>T	ENSP00000268676:p.Arg133Cys		B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R133C	ENST00000268676.7	37	c.397	CCDS10989.1	16	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143339	0.77888	.	.	ENSG00000140995	ENST00000268676;ENST00000418391	T;T	0.52295	0.67;0.7	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.68595	0.3018	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	0.72338	0.967;0.977;0.927;0.977	T	0.73783	-0.3874	10	0.87932	D	0	-16.1584	16.717	0.85399	0.0:1.0:0.0:0.0	.	72;72;133;72	Q6ZN54-5;Q6ZN54-3;Q6ZN54;Q6ZN54-2	.;.;DEFI8_HUMAN;.	C	133;72	ENSP00000268676:R133C;ENSP00000412784:R72C	ENSP00000268676:R133C	R	+	1	0	DEF8	88549167	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.986000	0.63851	2.293000	0.77203	0.561000	0.74099	CGC	DEF8	-	NULL	ENSG00000140995		0.632	DEF8-001	KNOWN	basic|CCDS	protein_coding	DEF8	HGNC	protein_coding	OTTHUMT00000272878.1	-	0	60	0	C	NM_207514		90021666	1	tier1	-	no_errors	ENST00000268676	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	T	T	90021666	C	T	90021666	3	4	164	1	0	0	0	0	1	0	0	0	4396	652	23	1	407	1	DEF8	16	90021666	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	260265	90021666	333087	128	41675											
TP53	7157	genome.wustl.edu	37	chr17	7578223	7578223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactatgtcgaaaagtgtttCtgtcatccaaatactccaca	13	12	5	11	1	2	0	1	0	1	0	5	1	4	0	2	0	1	1	2	0	5	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr17:7578223C>T	ENST00000269305.4	-	6	815	c.626G>A	c.(625-627)aGa>aAa	p.R209K	TP53_ENST00000359597.4_Missense_Mutation_p.R209K|TP53_ENST00000445888.2_Missense_Mutation_p.R209K|TP53_ENST00000420246.2_Missense_Mutation_p.R209K|TP53_ENST00000455263.2_Missense_Mutation_p.R209K|TP53_ENST00000413465.2_Missense_Mutation_p.R209K|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	209	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> 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.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77fs*6(2)|p.D208fs*1(1)|p.R77K(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.R209I(1)|p.R116K(1)|p.R209fs*5(1)|p.R209fs*36(1)|p.E204_N210delEYLDDRN(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAAAGTGTTTCTGTCATCCAA	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"	82	Deletion - Frameshift(51)|Substitution - Missense(13)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)	biliary_tract(11)|breast(9)|upper_aerodigestive_tract(7)|oesophagus(7)|large_intestine(6)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(5)|prostate(5)|lung(4)|bone(4)|stomach(3)|soft_tissue(3)|ovary(3)|pancreas(3)|salivary_gland(2)|skin(2)|cervix(1)|liver(1)|thyroid(1)											143	127	132					17																	7578223		2203	4300	6503	SO:0001583	missense	0	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.626G>A	17.37:g.7578223C>T	ENSP00000269305:p.Arg209Lys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R209K	ENST00000269305.4	37	c.626	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416032	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	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	5.41	-10.8	0.00216	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	1.073180	0.07006	N	0.824273	D	0.96706	0.8925	N	0.20986	0.625	0.09310	N	1	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	0.08055	0.001;0.002;0.0;0.003;0.003;0.003;0.001	D	0.94466	0.7680	10	0.19147	T	0.46	0.8848	1.3926	0.02253	0.2446:0.1044:0.2419:0.409	.	170;209;209;116;209;209;209	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	K	209;209;209;209;209;209;198;116;77;116;77	ENSP00000410739:R209K;ENSP00000352610:R209K;ENSP00000269305:R209K;ENSP00000398846:R209K;ENSP00000391127:R209K;ENSP00000391478:R209K;ENSP00000425104:R77K;ENSP00000423862:R116K	ENSP00000269305:R209K	R	-	2	0	TP53	7518948	0.000000	0.05858	0.000000	0.03702	0.460000	0.32559	-2.156000	0.01283	-1.816000	0.01221	-0.794000	0.03295	AGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	101	0	C	NM_000546		7578223	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	55.32	21	26	SNP	0.000	T	T	7578223	C	T	7578223	3	4	164	1	0	0	0	0	1	0	0	0	16429	913	32	3	668	3	TP53	17	7578223	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09		7578223	73616987	129	41676											
TP53	7157	genome.wustl.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T	1	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	gcaaatttccttccactcggAtaagatgctgaggaggggcc	10	9	12	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	2	3	4	2	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr17:7578265A>T	ENST00000269305.4	-	6	773	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_ENST00000359597.4_Missense_Mutation_p.I195N|TP53_ENST00000445888.2_Missense_Mutation_p.I195N|TP53_ENST00000420246.2_Missense_Mutation_p.I195N|TP53_ENST00000455263.2_Missense_Mutation_p.I195N|TP53_ENST00000413465.2_Missense_Mutation_p.I195N|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	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"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)											100	89	93					17																	7578265		2203	4300	6503	SO:0001583	missense	0	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.584T>A	17.37:g.7578265A>T	ENSP00000269305:p.Ile195Asn		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.I195N	ENST00000269305.4	37	c.584	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474490	0.43942	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99828	-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.54753	D	0.999981	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.994;0.996;0.998;0.998;0.998	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195N;ENSP00000352610:I195N;ENSP00000269305:I195N;ENSP00000398846:I195N;ENSP00000391127:I195N;ENSP00000391478:I195N;ENSP00000425104:I63N;ENSP00000423862:I102N	ENSP00000269305:I195N	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	107	0	A	NM_000546		7578265	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	58.14	18	25	SNP	1.000	T	T	7578265	A	T	7578265	3	4	164	1	0	0	0	0	1	0	0	0	16429	333	12	5	710	5	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09	42	7578265	73616945	130	41677											
GRAP	10750	genome.wustl.edu	37	chr17	18925357	18925357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gccaccagtgggggtctgggCgctccaggacctcaatgatg	7	7	15	12	1	2	1	1	1	1	0	3	2	3	2	4	4	0	1	4	4	1	0			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr17:18925357C>T	ENST00000284154.5	-	5	1279	c.569G>A	c.(568-570)cGc>cAc	p.R190H	GRAP_ENST00000395635.1_Missense_Mutation_p.R161H|GRAP_ENST00000573099.1_Missense_Mutation_p.A134T|SLC5A10_ENST00000317977.6_3'UTR	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	190	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					GGGGTCTGGGCGCTCCAGGAC	0.692																																																	0													12	14	14					17																	18925357		2192	4294	6486	SO:0001583	missense	0			U52518	CCDS11202.1	17p11.2	2013-02-14			ENSG00000154016	ENSG00000154016		"SH2 domain containing"	4562	protein-coding gene	gene with protein product		604330				8647802, 8995379	Standard	NM_006613		Approved		uc002guy.3	Q13588	OTTHUMG00000059436	ENST00000284154.5:c.569G>A	17.37:g.18925357C>T	ENSP00000284154:p.Arg190His			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain,prints_p67phox	p.R190H	ENST00000284154.5	37	c.569	CCDS11202.1	17	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313732	0.40996	.	.	ENSG00000154016	ENST00000284154;ENST00000395635	T;T	0.08720	3.06;3.06	4.77	1.05	0.20165	Src homology-3 domain (3);Variant SH3 (1);	0.474289	0.24820	N	0.035336	T	0.08133	0.0203	L	0.49571	1.57	0.27850	N	0.940771	B	0.06786	0.001	B	0.08055	0.003	T	0.17137	-1.0379	10	0.54805	T	0.06	.	8.2007	0.31424	0.0:0.5992:0.2418:0.159	.	190	Q13588	GRAP_HUMAN	H	190;161	ENSP00000284154:R190H;ENSP00000378997:R161H	ENSP00000284154:R190H	R	-	2	0	GRAP	18866082	0.981000	0.34729	0.214000	0.23707	0.771000	0.43674	0.647000	0.24812	0.408000	0.25621	0.491000	0.48974	CGC	GRAP	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox	ENSG00000154016		0.692	GRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAP	HGNC	protein_coding	OTTHUMT00000132176.2	-	0	93	0	C	NM_006613		18925357	-1	tier1	-	no_errors	ENST00000284154	ensembl	human	known	74_37	missense	46.67	24	21	SNP	0.701	T	T	18925357	C	T	18925357	3	4	164	1	0	0	0	0	1	0	0	0	6780	768	27	1	88	1	GRAP	17	18925357	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	11347092	18925357	62269853	131	41678											
PIP4K2B	8396	genome.wustl.edu	37	chr17	36935734	36935734	+	Missense_Mutation	SNP	T	T	C	0	1	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	atccacggtcaggcggtacaTgcccaggaactgtggcaaaa	12	6	12	11	2	1	0	1	0	0	0	2	1	2	1	2	5	3	2	2	5	4	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr17:36935734T>C	ENST00000269554.3	-	5	1036	c.556A>G	c.(556-558)Atg>Gtg	p.M186V	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	186	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGGCGGTACATGCCCAGGAAC	0.517																																																	0													151	107	122					17																	36935734		2203	4300	6503	SO:0001583	missense	0			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.556A>G	17.37:g.36935734T>C	ENSP00000269554:p.Met186Val		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.M186V	ENST00000269554.3	37	c.556	CCDS11329.1	17	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624014	0.66901	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.32515	1.45	5.17	5.17	0.71159	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	L	0.49640	1.575	0.80722	D	1	P;P;B	0.36616	0.561;0.505;0.281	B;B;B	0.42798	0.358;0.288;0.398	T	0.26395	-1.0104	10	0.87932	D	0	-10.9249	13.9639	0.64196	0.0:0.0:0.0:1.0	.	186;186;186	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	V	186	ENSP00000269554:M186V	ENSP00000269554:M186V	M	-	1	0	PIP4K2B	34189260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.522000	0.81844	2.168000	0.68352	0.533000	0.62120	ATG	PIP4K2B	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000141720		0.517	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2B	HGNC	protein_coding	OTTHUMT00000256791.1	-	0	51	0	T	NM_003559		36935734	-1	tier1	-	no_errors	ENST00000269554	ensembl	human	known	74_37	missense	31.75	43	20	SNP	1.000	C	C	36935734	T	C	36935734	3	2	164	1	0	0	0	0	1	0	0	0	11976	1464	51	4	718	4	PIP4K2B	17	36935734	Missense_Mutation	SNP	T	TCGA-VR-A8ER-01A-11D-A36J-09	18010377	36935734	44259476	132	41679											
NR1D1	9572	genome.wustl.edu	37	chr17	38253410	38253410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggggctcccattatagaagGaggaggaggatgacgacgag	12	5	18	6	2	0	2	0	1	0	1	1	8	1	6	1	6	0	1	1	6	3	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr17:38253410G>T	ENST00000246672.3	-	2	908	c.278C>A	c.(277-279)tCc>tAc	p.S93Y		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	93	Crucial for activation of GJA1. {ECO:0000250}.|Modulating.|Poly-Ser.				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)					ATTATagaaggaggaggagga	0.592																																																	0													51	52	52					17																	38253410		2203	4300	6503	SO:0001583	missense	0			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.278C>A	17.37:g.38253410G>T	ENSP00000246672:p.Ser93Tyr		Q0P5Z4|Q15304	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S93Y	ENST00000246672.3	37	c.278	CCDS11361.1	17	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399802	0.25291	.	.	ENSG00000126368	ENST00000246672	D	0.91464	-2.85	1.87	1.87	0.25490	.	0.281783	0.29572	N	0.011772	D	0.87188	0.6115	L	0.43152	1.355	0.33796	D	0.626102	D	0.54964	0.969	P	0.50490	0.642	D	0.86533	0.1823	10	0.34782	T	0.22	.	6.379	0.21523	0.0:0.3131:0.6869:0.0	.	93	P20393	NR1D1_HUMAN	Y	93	ENSP00000246672:S93Y	ENSP00000246672:S93Y	S	-	2	0	NR1D1	35506936	1.000000	0.71417	0.996000	0.52242	0.343000	0.28985	0.785000	0.26830	1.072000	0.40860	0.297000	0.19635	TCC	NR1D1	-	NULL	ENSG00000126368		0.592	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1		0	72	0	G			38253410	-1			no_errors	ENST00000246672	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.983	T	T	38253410	G	T	38253410	3	4	164	1	0	0	0	0	1	0	0	0	10654	1174	41	3	1594	3	NR1D1	17	38253410	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	1317676	38253410	42941800	133	41680											
KIF18B	146909	genome.wustl.edu	37	chr17	43013493	43013493	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcctcgccaaagacccGgtcaaagacaaacgtcaggt	12	4	11	14	4	2	2	2	0	0	2	3	2	2	2	4	3	1	0	4	3	3	0			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr17:43013493G>T	ENST00000593135.1	-	2	317	c.220C>A	c.(220-222)Cgg>Agg	p.R74R	KIF18B_ENST00000590129.1_Silent_p.R83R|KIF18B_ENST00000438933.2_Silent_p.R74R|KIF18B_ENST00000339151.4_Silent_p.R74R|KIF18B_ENST00000587309.1_Silent_p.R74R	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	83	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)				CCAAAGACCCGGTCAAAGACA	0.597																																																	0													41	48	46					17																	43013493		2103	4226	6329	SO:0001819	synonymous_variant	0				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.220C>A	17.37:g.43013493G>T			A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R74	ENST00000593135.1	37	c.220	CCDS45709.2	17																																																																																			KIF18B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000186185		0.597	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	HGNC	protein_coding	OTTHUMT00000448724.1		0	79	0	G	NM_001080443		43013493	-1			no_errors	ENST00000339151	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T	T	43013493	G	T	43013493	2	4	164	1	0	0	0	0	0	0	0	1	8308	1115	39	2		2	KIF18B	17	43013493	Silent	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	4760083	43013493	38181717	134	41681											
APPBP2	10513	genome.wustl.edu	37	chr17	58524943	58524943	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaactgaggtcctccctCagcagctcggtccctcgaca	7	9	10	15	2	1	1	1	1	0	0	6	2	4	1	3	3	3	3	3	3	1	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr17:58524943C>A	ENST00000083182.3	-	13	2044	c.1757G>T	c.(1756-1758)tGa>tTa	p.*586L		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	0					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.*586*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GGTCCTCCCTCAGCAGCTCGG	0.493																																																	1	Substitution - coding silent(1)	lung(1)											94	96	95					17																	58524943		2203	4300	6503	SO:0001578	stop_lost	0			AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1757G>T	17.37:g.58524943C>A			A8K862|O95095|Q8WVC9	Nonstop_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.*586L	ENST00000083182.3	37	c.1757	CCDS32699.1	17	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190056	0.38707	.	.	ENSG00000062725	ENST00000083182	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5648	0.27872	0.0:0.8061:0.0:0.1939	.	.	.	.	L	586	.	.	X	-	2	2	APPBP2	55879725	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.600000	0.46240	2.730000	0.93505	0.655000	0.94253	TGA	APPBP2	-	NULL	ENSG00000062725		0.493	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPBP2	HGNC	protein_coding	OTTHUMT00000449465.1	-	0	79	0	C	NM_006380		58524943	-1	tier1	-	no_errors	ENST00000083182	ensembl	human	known	74_37	nonstop	9.20	79	8	SNP	1.000	A	A	58524943	C	A	58524943	4	1	164	1	0	0	0	0	0	0	0	0	816	837	29	3	4	3	APPBP2	17	58524943	Nonstop_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	15511450	58524943	22670267	135	41682											
BPTF	2186	genome.wustl.edu	37	chr17	65850689	65850689	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agcagtataccatttggaatGtgtgaagccacctcttgagg	11	11	11	8	0	1	2	0	2	1	0	1	3	1	3	3	2	3	2	3	2	4	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr17:65850689G>T	ENST00000321892.4	+	2	1308	c.1247G>T	c.(1246-1248)tGt>tTt	p.C416F	BPTF_ENST00000424123.3_Missense_Mutation_p.C277F|BPTF_ENST00000335221.5_Missense_Mutation_p.C416F|BPTF_ENST00000306378.6_Missense_Mutation_p.C416F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	416					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)			CATTTGGAATGTGTGAAGCCA	0.483																																																	0													234	216	223					17																	65850689		2203	4300	6503	SO:0001583	missense	0			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.1247G>T	17.37:g.65850689G>T	ENSP00000315454:p.Cys416Phe		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.C416F	ENST00000321892.4	37	c.1247		17	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191827	0.58017	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	D;D;D	0.99981	-10.44;-10.44;-10.44	5.62	5.62	0.85841	Zinc finger, PHD-finger (2);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);	.	.	.	.	D	0.99986	0.9997	H	0.99325	4.515	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.99965	1.1818	9	0.87932	D	0	.	19.6584	0.95853	0.0:0.0:1.0:0.0	.	416;416;416	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	F	321;416;416;416;277	ENSP00000307208:C416F;ENSP00000334351:C416F;ENSP00000315454:C416F	ENSP00000307208:C416F	C	+	2	0	BPTF	63281151	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.646000	0.89796	0.655000	0.94253	TGT	BPTF	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000171634		0.483	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding			0	37	0	G	NM_182641, NM_004459		65850689	1			no_errors	ENST00000321892	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	T	T	65850689	G	T	65850689	3	4	164	1	0	0	0	0	1	0	0	0	1499	1377	48	3	1253	3	BPTF	17	65850689	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	7325746	65850689	15344521	136	41683											
OTOP2	92736	genome.wustl.edu	37	chr17	72926446	72926446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgccagatcttccagcaggGgtacttctacctatatccct	8	12	7	14	0	2	1	0	0	2	1	4	1	4	1	4	2	4	2	4	2	4	6			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr17:72926446G>T	ENST00000580223.1	+	5	746	c.716G>T	c.(715-717)gGg>gTg	p.G239V	OTOP2_ENST00000331427.4_Missense_Mutation_p.G239V			Q7RTS6	OTOP2_HUMAN	otopetrin 2	239						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TTCCAGCAGGGGTACTTCTAC	0.562																																																	0													173	164	167					17																	72926446		2203	4300	6503	SO:0001583	missense	0			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.716G>T	17.37:g.72926446G>T	ENSP00000463837:p.Gly239Val			Missense_Mutation	SNP	pfam_Otopetrin	p.G239V	ENST00000580223.1	37	c.716	CCDS11708.1	17	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213106	0.58452	.	.	ENSG00000183034	ENST00000331427	T	0.20332	2.08	5.56	5.56	0.83823	.	0.051771	0.85682	D	0.000000	T	0.48241	0.1489	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.31081	-0.9956	10	0.19147	T	0.46	-5.822	19.5904	0.95508	0.0:0.0:1.0:0.0	.	239	Q7RTS6	OTOP2_HUMAN	V	239	ENSP00000332528:G239V	ENSP00000332528:G239V	G	+	2	0	OTOP2	70438041	1.000000	0.71417	0.992000	0.48379	0.655000	0.38815	6.143000	0.71756	2.638000	0.89438	0.558000	0.71614	GGG	OTOP2	-	pfam_Otopetrin	ENSG00000183034		0.562	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP2	HGNC	protein_coding	OTTHUMT00000445306.1		0	39	0	G	NM_178160		72926446	1			no_errors	ENST00000331427	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	72926446	G	T	72926446	3	4	164	1	0	0	0	0	1	0	0	0	11345	1232	43	3	734	3	OTOP2	17	72926446	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	7075757	72926446	8268764	137	41684											
C17orf28	283987	genome.wustl.edu	37	chr17	72956020	72956020	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttcacaaacaggttctCagggcctggaggctgccaag	10	8	13	10	0	2	0	2	0	1	0	3	1	2	1	2	4	2	4	2	4	3	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr17:72956020C>A	ENST00000425042.2	-	8	1041	c.964G>T	c.(964-966)Gag>Tag	p.E322*	HID1_ENST00000532900.1_5'Flank	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	322					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											AACAGGTTCTCAGGGCCTGGA	0.622																																																	0													102	96	98					17																	72956020		2203	4300	6503	SO:0001587	stop_gained	0				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.964G>T	17.37:g.72956020C>A	ENSP00000413520:p.Glu322*		Q8N5L6|Q8TE83|Q9NT34	Nonsense_Mutation	SNP	pfam_Dymeclin	p.E322*	ENST00000425042.2	37	c.964	CCDS32726.1	17	.	.	.	.	.	.	.	.	.	.	C	38	7.091829	0.98059	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565;ENST00000530857	.	.	.	5.0	5.0	0.66597	.	0.111144	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-26.975	17.9002	0.88901	0.0:1.0:0.0:0.0	.	.	.	.	X	94;322;94;214	.	ENSP00000317795:E94X	E	-	1	0	C17orf28	70467615	1.000000	0.71417	0.954000	0.39281	0.718000	0.41266	5.974000	0.70465	2.291000	0.77112	0.561000	0.74099	GAG	HID1	-	NULL	ENSG00000167861		0.622	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HID1	HGNC	protein_coding	OTTHUMT00000390011.2		0	36	0	C	NM_030630		72956020	-1			no_errors	ENST00000425042	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	0.995	A	A	72956020	C	A	72956020	4	1	164	1	0	0	0	0	0	1	0	0	1859	835	29	3	1450	3	C17orf28	17	72956020	Nonsense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	29574	72956020	8239190	138	41685											
SMAD2	4087	genome.wustl.edu	37	chr18	45395775	45395775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacatgtggcaatccttttCgatgggatacctggagacga	11	11	11	8	2	0	1	0	0	0	1	2	5	1	2	2	3	2	1	2	3	3	4	rs374809046		TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr18:45395775C>A	ENST00000402690.2	-	4	753	c.359G>T	c.(358-360)cGa>cTa	p.R120L	SMAD2_ENST00000586040.1_Missense_Mutation_p.R90L|SMAD2_ENST00000591214.1_Missense_Mutation_p.R90L|SMAD2_ENST00000262160.6_Missense_Mutation_p.R120L|SMAD2_ENST00000356825.4_Missense_Mutation_p.R90L|SMAD2_ENST00000587353.1_5'UTR	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	120	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.R120Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CAATCCTTTTCGATGGGATAC	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											79	72	75					18																	45395775		2203	4300	6503	SO:0001583	missense	0			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"SMADs"	6768	protein-coding gene	gene with protein product		601366	"MAD, mothers against decapentaplegic homolog 2 (Drosophila)", "SMAD, mothers against DPP homolog 2 (Drosophila)"	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.359G>T	18.37:g.45395775C>A	ENSP00000384449:p.Arg120Leu			Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R120L	ENST00000402690.2	37	c.359	CCDS11934.1	18	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775738	0.90195	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	T;T;T	0.78126	-1.15;-1.15;-1.15	5.17	5.17	0.71159	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.86159	0.5866	M	0.74467	2.265	0.80722	D	1	P;P;P	0.51147	0.942;0.936;0.898	P;P;P	0.56343	0.647;0.735;0.796	D	0.87793	0.2620	10	0.87932	D	0	.	19.0248	0.92929	0.0:1.0:0.0:0.0	.	90;90;120	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	L	120;90;120	ENSP00000262160:R120L;ENSP00000349282:R90L;ENSP00000384449:R120L	ENSP00000262160:R120L	R	-	2	0	SMAD2	43649773	1.000000	0.71417	0.917000	0.36280	0.983000	0.72400	7.776000	0.85560	2.566000	0.86566	0.591000	0.81541	CGA	SMAD2	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1	ENSG00000175387		0.403	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD2	HGNC	protein_coding	OTTHUMT00000450571.1		0	42	0	C	NM_005901		45395775	-1			no_errors	ENST00000262160	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	45395775	C	A	45395775	3	1	164	1	0	0	0	0	1	0	0	0	14803	884	31	2	1076	2	SMAD2	18	45395775	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09		45395775	32681473	139	41686											
DCC	1630	genome.wustl.edu	37	chr18	50918162	50918162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgctgtgagggtcagctggGcagacaactctgtccctaag	9	9	13	10	0	2	2	1	1	1	1	3	2	3	2	1	2	3	3	1	2	2	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr18:50918162G>T	ENST00000442544.2	+	17	3209	c.2593G>T	c.(2593-2595)Gca>Tca	p.A865S	DCC_ENST00000412726.1_Missense_Mutation_p.A693S|DCC_ENST00000581580.1_Missense_Mutation_p.A500S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	865	Fibronectin type-III 5. {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)		GGTCAGCTGGGCAGACAACTC	0.537																																																	0													144	129	134					18																	50918162		2203	4300	6503	SO:0001583	missense	0			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.2593G>T	18.37:g.50918162G>T	ENSP00000389140:p.Ala865Ser			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A865S	ENST00000442544.2	37	c.2593	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009713	0.54361	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.51574	0.7;0.7	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	L	0.58810	1.83	0.58432	D	0.999995	P;P;P	0.51057	0.941;0.941;0.888	D;D;P	0.65874	0.939;0.939;0.892	T	0.54302	-0.8314	10	0.10636	T	0.68	.	18.0078	0.89214	0.0:0.0:1.0:0.0	.	693;693;865	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	S	865;693	ENSP00000389140:A865S;ENSP00000397322:A693S	ENSP00000397322:A693S	A	+	1	0	DCC	49172160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.682000	0.98655	2.531000	0.85337	0.557000	0.71058	GCA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.537	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	33	0	G	NM_005215		50918162	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	50918162	G	T	50918162	3	4	164	1	0	0	0	0	1	0	0	0	4291	1203	42	3	2659	3	DCC	18	50918162	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	5522387	50918162	27159086	140	41687											
NFATC1	4772	genome.wustl.edu	37	chr18	77221366	77221366	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccgggacctgtgcaagccGgtgagtgcctttggcgcagc	6	7	16	12	3	0	1	0	1	0	0	0	3	0	2	4	3	4	2	4	3	1	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr18:77221366G>A	ENST00000427363.2	+	7	1959	c.1959G>A	c.(1957-1959)ccG>ccA	p.P653P	NFATC1_ENST00000329101.4_Splice_Site_p.P640P|NFATC1_ENST00000545796.1_Splice_Site_p.P181P|NFATC1_ENST00000253506.5_Splice_Site_p.P653P|NFATC1_ENST00000318065.5_Splice_Site_p.P640P|NFATC1_ENST00000591814.1_Splice_Site_p.P653P|NFATC1_ENST00000586434.1_Splice_Site_p.P640P|NFATC1_ENST00000592223.1_Splice_Site_p.P640P|NFATC1_ENST00000397790.2_Splice_Site_p.P181P|NFATC1_ENST00000587635.1_Splice_Site_p.R625Q|NFATC1_ENST00000542384.1_Splice_Site_p.P653P			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	653					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)	TGTGCAAGCCGGTGAGTGCCT	0.632																																					GBM(151;1210 2593 28719 45011)												0													59	55	56					18																	77221366		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1959+1G>A	18.37:g.77221366G>A			B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	p.R625Q	ENST00000427363.2	37	c.1874		18																																																																																			NFATC1	-	NULL	ENSG00000131196		0.632	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1		0	100	0	G	NM_172390	Silent	77221366	1			no_errors	ENST00000587635	ensembl	human	novel	74_37	missense	5.66	50	3	SNP	0.684	A	A	77221366	G	A	77221366	5	1	164	1	0	0	0	0	0	0	1	0	10400	1130	39	1	2077	1	NFATC1	18	77221366	Splice_Site	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	26303204	77221366	855882	141	41688											
AMH	268	genome.wustl.edu	37	chr19	2250424	2250424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggcgctgctggtgctgtaCcctgggcctggccctgaggt	2	10	16	13	1	0	1	0	1	0	0	0	1	0	1	3	5	3	4	3	5	1	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr19:2250424C>T	ENST00000221496.4	+	2	523	c.501C>T	c.(499-501)taC>taT	p.Y167Y	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	167			Y -> C (in PMDS1). {ECO:0000269|PubMed:8162013}.		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)		TGGTGCTGTACCCTGGGCCTG	0.726									Persistant Mullerian Duct Syndrome (type I and II)																																								0													10	12	11					19																	2250424		2146	4238	6384	SO:0001819	synonymous_variant	0	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.501C>T	19.37:g.2250424C>T			O75246|Q6GTN3	Silent	SNP	pfam_AMH_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_Muellerian-inhibiting_factor	p.Y167	ENST00000221496.4	37	c.501	CCDS12085.1	19																																																																																			AMH	-	pfam_AMH_N,pirsf_Muellerian-inhibiting_factor	ENSG00000104899		0.726	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMH	HGNC	protein_coding	OTTHUMT00000451276.3	-	0	44	0	C	NM_000479		2250424	1	tier1	-	no_errors	ENST00000221496	ensembl	human	known	74_37	silent	32.69	35	17	SNP	0.988	T	T	2250424	C	T	2250424	2	4	164	1	0	0	0	0	0	0	0	1	572	518	18	3		3	AMH	19	2250424	Silent	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09		2250424	56878559	142	41689											
FUT6	2528	genome.wustl.edu	37	chr19	5831513	5831513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcctctcaggtgaaccaagCcgctatgccgcgtgtctggt	7	9	12	13	3	2	1	1	1	2	0	3	1	2	1	4	2	4	1	4	2	3	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr19:5831513C>T	ENST00000318336.4	-	3	2260	c.1066G>A	c.(1066-1068)Gct>Act	p.A356T	FUT6_ENST00000524754.1_Missense_Mutation_p.A356T|FUT6_ENST00000286955.5_Missense_Mutation_p.A356T|FUT6_ENST00000527106.1_Missense_Mutation_p.A356T|FUT6_ENST00000592563.1_Intron	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	356					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						GTGAACCAAGCCGCTATGCCG	0.622																																																	0													69	80	77					19																	5831513		2203	4300	6503	SO:0001583	missense	0				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.1066G>A	19.37:g.5831513C>T	ENSP00000313398:p.Ala356Thr		A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.A356T	ENST00000318336.4	37	c.1066	CCDS12152.1	19	.	.	.	.	.	.	.	.	.	.	C	4.323	0.059263	0.08339	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	2.66	-5.32	0.02722	.	.	.	.	.	T	0.14056	0.0340	L	0.35249	1.045	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.29640	-1.0005	9	0.20519	T	0.43	.	5.5168	0.16912	0.1778:0.4493:0.0:0.3729	.	356	P51993	FUT6_HUMAN	T	356	ENSP00000431708:A356T;ENSP00000432954:A356T;ENSP00000313398:A356T;ENSP00000286955:A356T	ENSP00000286955:A356T	A	-	1	0	FUT6	5782513	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.773000	0.01786	-1.820000	0.01215	-0.477000	0.04895	GCT	FUT6	-	pfam_Glyco_trans_10	ENSG00000156413		0.622	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT6	HGNC	protein_coding	OTTHUMT00000394218.2		0	121	0	C	NM_000150		5831513	-1			no_errors	ENST00000286955	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.000	T	T	5831513	C	T	5831513	3	4	164	1	0	0	0	0	1	0	0	0	6132	739	26	3	17	3	FUT6	19	5831513	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	3581089	5831513	53297470	143	41690											
MLLT1	4298	genome.wustl.edu	37	chr19	6230661	6230661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctcgcagcgcaggtggttcaCgggcgggttgccttccaggt	4	9	16	12	4	1	0	1	0	0	0	3	0	2	0	2	5	2	4	2	5	0	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr19:6230661C>T	ENST00000252674.7	-	4	503	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	114					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)	p.V114M(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGTGGTTCACGGGCGGGTTG	0.612			T	MLL	AL																																			Dom	yes		19	19p13.3	4298	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"		L	1	Substitution - Missense(1)	endometrium(1)											169	169	169					19																	6230661		2203	4300	6503	SO:0001583	missense	0				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.340G>A	19.37:g.6230661C>T	ENSP00000252674:p.Val114Met		Q14768	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.V114M	ENST00000252674.7	37	c.340	CCDS12160.1	19	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869774	0.72065	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.78509	0.4294	M	0.81802	2.56	0.80722	D	1	D	0.65815	0.995	D	0.63381	0.914	T	0.82364	-0.0494	9	0.87932	D	0	-28.3179	16.3961	0.83605	0.0:1.0:0.0:0.0	.	114	Q03111	ENL_HUMAN	M	114	.	ENSP00000252674:V114M	V	-	1	0	MLLT1	6181661	1.000000	0.71417	0.511000	0.27724	0.409000	0.31022	7.514000	0.81750	2.427000	0.82271	0.655000	0.94253	GTG	MLLT1	-	NULL	ENSG00000130382		0.612	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT1	HGNC	protein_coding	OTTHUMT00000452909.1	-	0	51	0	C	NM_005934		6230661	-1	tier1	-	no_errors	ENST00000252674	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	6230661	C	T	6230661	3	4	164	1	0	0	0	0	1	0	0	0	9663	536	19	1	1375	1	MLLT1	19	6230661	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	399148	6230661	52898322	144	41691											
ZNF257	113835	genome.wustl.edu	37	chr19	22271249	22271249	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccctacaaatgtgaaGagtgtggaaaagcttttaac	17	9	9	6	0	0	3	0	1	0	2	0	4	0	4	1	1	4	1	1	1	7	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr19:22271249G>T	ENST00000594947.1	+	4	841	c.697G>T	c.(697-699)Gag>Tag	p.E233*		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	233					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)				CAAATGTGAAGAGTGTGGAAA	0.413																																																	0													38	42	41					19																	22271249		2166	4277	6443	SO:0001587	stop_gained	0			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.697G>T	19.37:g.22271249G>T	ENSP00000470209:p.Glu233*		B3KPS4|E9PG34|Q8NE34	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E233*	ENST00000594947.1	37	c.697	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980224	0.74474	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.713	0.11223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	7.8668	0.29541	0.0:0.2579:0.7421:0.0	.	.	.	.	X	233;205	.	ENSP00000380312:E205X	E	+	1	0	ZNF257	22063089	0.000000	0.05858	0.330000	0.25442	0.880000	0.50808	-0.410000	0.07151	0.518000	0.28383	0.313000	0.20887	GAG	ZNF257	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197134		0.413	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	-	0	57	0	G			22271249	1	tier1	-	no_errors	ENST00000594947	ensembl	human	known	74_37	nonsense	22.22	35	10	SNP	0.066	T	T	22271249	G	T	22271249	4	4	164	1	0	0	0	0	0	1	0	0	17848	943	33	3	711	3	ZNF257	19	22271249	Nonsense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	16040588	22271249	36857734	145	41692											
ZNF254	9534	genome.wustl.edu	37	chr19	24309076	24309076	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatgtgtcctcattttgctCaagacctttggccagagcag	8	13	10	10	0	2	2	2	0	0	2	3	2	3	2	3	1	2	3	3	1	2	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr19:24309076C>G	ENST00000357002.4	+	4	389	c.274C>G	c.(274-276)Caa>Gaa	p.Q92E	ZNF254_ENST00000342944.6_Missense_Mutation_p.Q7E	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	92					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)				TCATTTTGCTCAAGACCTTTG	0.308																																																	0													32	33	33					19																	24309076		2168	4279	6447	SO:0001583	missense	0			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.274C>G	19.37:g.24309076C>G	ENSP00000349494:p.Gln92Glu		A4QPC0|Q86XL7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q92E	ENST00000357002.4	37	c.274	CCDS32983.1	19	.	.	.	.	.	.	.	.	.	.	C	4.553	0.102703	0.08731	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.08720	3.06;3.39	1.42	-0.124	0.13523	.	.	.	.	.	T	0.07818	0.0196	L	0.48174	1.505	0.09310	N	1	B	0.21147	0.052	B	0.17979	0.02	T	0.32025	-0.9922	9	0.48119	T	0.1	.	6.8441	0.23979	0.0:0.4613:0.5387:0.0	.	92	O75437	ZN254_HUMAN	E	7;92;92	ENSP00000445527:Q7E;ENSP00000349494:Q92E	ENSP00000445527:Q7E	Q	+	1	0	ZNF254	24100916	.	.	0.003000	0.11579	0.631000	0.37964	.	.	0.536000	0.28733	0.313000	0.20887	CAA	ZNF254	-	NULL	ENSG00000213096		0.308	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	-	0	49	0	C	NM_004876		24309076	1	tier1	-	no_errors	ENST00000357002	ensembl	human	known	74_37	missense	36.84	24	14	SNP	0.000	G	G	24309076	C	G	24309076	3	3	164	1	0	0	0	0	1	0	0	0	17846	827	29	5	288	5	ZNF254	19	24309076	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	2037827	24309076	34819907	146	41693											
SPTBN4	57731	genome.wustl.edu	37	chr19	41008712	41008712	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggagaaggctgagcatGagcgggaggctgccctacgg	9	5	18	9	2	0	3	0	2	0	1	0	5	0	4	1	5	5	4	1	5	2	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr19:41008712G>T	ENST00000352632.3	+	11	1320	c.1234G>T	c.(1234-1236)Gag>Tag	p.E412*	SPTBN4_ENST00000598249.1_Nonsense_Mutation_p.E412*|SPTBN4_ENST00000344104.3_Nonsense_Mutation_p.E412*|SPTBN4_ENST00000338932.3_Nonsense_Mutation_p.E412*|SPTBN4_ENST00000595535.1_Nonsense_Mutation_p.E412*			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	412					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)			GGCTGAGCATGAGCGGGAGGC	0.577																																																	0													80	86	84					19																	41008712		2203	4300	6503	SO:0001587	stop_gained	0			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.1234G>T	19.37:g.41008712G>T	ENSP00000263373:p.Glu412*		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Nonsense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E412*	ENST00000352632.3	37	c.1234	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.617180	0.98393	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	.	.	.	4.2	4.2	0.49525	.	0.000000	0.64402	U	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	15.4668	0.75406	0.0:0.0:1.0:0.0	.	.	.	.	X	412	.	ENSP00000340345:E412X	E	+	1	0	SPTBN4	45700552	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.602000	0.98312	2.168000	0.68352	0.563000	0.77884	GAG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat	ENSG00000160460		0.577	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0	20	0	G			41008712	1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	nonsense	16.67	15	3	SNP	1.000	T	T	41008712	G	T	41008712	4	4	164	1	0	0	0	0	0	1	0	0	15168	1291	45	3	1272	3	SPTBN4	19	41008712	Nonsense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	16699636	41008712	18120271	147	41694											
ZNF548	147694	genome.wustl.edu	37	chr19	57910927	57910927	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggccttatgagtgcagCgaatgcgggaaattctttcg	11	10	13	7	3	1	1	0	1	1	0	2	4	1	2	1	2	3	1	1	2	4	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr19:57910927C>T	ENST00000366197.5	+	3	1522	c.1272C>T	c.(1270-1272)agC>agT	p.S424S	AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Silent_p.S436S|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S436S(1)		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)		ATGAGTGCAGCGAATGCGGGA	0.468																																																	1	Substitution - coding silent(1)	large_intestine(1)											58	60	59					19																	57910927		2200	4299	6499	SO:0001819	synonymous_variant	0			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.1272C>T	19.37:g.57910927C>T			Q96M05	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S436	ENST00000366197.5	37	c.1308	CCDS46209.1	19																																																																																			ZNF548	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188785		0.468	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	-	0	70	0	C	NM_152909		57910927	1	tier1	-	no_errors	ENST00000336128	ensembl	human	known	74_37	silent	27.08	35	13	SNP	0.000	T	T	57910927	C	T	57910927	2	4	164	1	0	0	0	0	0	0	0	1	18028	767	27	1		1	ZNF548	19	57910927	Silent	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	16902215	57910927	1218056	148	41695											
ZNF274	10782	genome.wustl.edu	37	chr19	58723016	58723016	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agaggaccgagtaccgcgatGtgatgctggagacctttggg	9	8	16	8	3	0	3	0	1	0	2	0	7	0	4	3	3	2	2	3	3	1	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr19:58723016G>T	ENST00000326804.4	+	8	1399	c.940G>T	c.(940-942)Gtg>Ttg	p.V314L	ZNF274_ENST00000424679.2_Missense_Mutation_p.V209L|ZNF274_ENST00000345813.3_Missense_Mutation_p.V282L|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	315	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GTACCGCGATGTGATGCTGGA	0.632																																																	0													100	116	111					19																	58723016		2197	4300	6497	SO:0001583	missense	0			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.940G>T	19.37:g.58723016G>T	ENSP00000321209:p.Val314Leu		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.V314L	ENST00000326804.4	37	c.940		19	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747421	0.49257	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.03801	3.8;3.8;3.8	5.17	4.14	0.48551	Krueppel-associated box (4);	0.000000	0.32444	N	0.006094	T	0.07234	0.0183	.	.	.	0.28836	N	0.89688	P;P;D	0.53312	0.95;0.95;0.959	B;B;P	0.46389	0.381;0.381;0.515	T	0.08027	-1.0742	9	0.54805	T	0.06	-9.2276	9.4679	0.38824	0.0957:0.0:0.9043:0.0	.	210;283;315	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	L	314;282;209	ENSP00000321209:V314L;ENSP00000321187:V282L;ENSP00000409872:V209L	ENSP00000321209:V314L	V	+	1	0	ZNF274	63414828	0.991000	0.36638	0.985000	0.45067	0.774000	0.43823	2.070000	0.41491	1.417000	0.47077	-0.251000	0.11542	GTG	ZNF274	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000171606		0.632	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF274	HGNC	protein_coding		-	0	52	0	G	NM_133502		58723016	1	tier1	-	no_errors	ENST00000326804	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.998	T	T	58723016	G	T	58723016	3	4	164	1	0	0	0	0	1	0	0	0	17857	1377	48	3	964	3	ZNF274	19	58723016	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	812089	58723016	405967	149	41696											
C20orf141	128653	genome.wustl.edu	37	chr20	2795992	2795992	+	Frame_Shift_Del	DEL	G	G	-																															ctggacagtgtcctatggctGggggcactaggactgacaat																										TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr20:2795992delG	ENST00000380589.4	+	1	336	c.162delG	c.(160-162)ctgfs	p.L54fs	TMEM239_ENST00000380585.1_5'Flank|TMEM239_ENST00000380593.4_Frame_Shift_Del_p.L54fs|TMEM239_ENST00000554164.1_Frame_Shift_Del_p.L54fs|C20orf141_ENST00000603872.1_Frame_Shift_Del_p.L54fs|TMEM239_ENST00000361033.1_5'Flank	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	54	Leu-rich.					integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						TCCTATGGCTGGGGGCACTAG	0.627																																																	0													107	106	107					20																	2795992		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.162delG	20.37:g.2795992delG	ENSP00000369963:p.Leu54fs			Frame_Shift_Del	DEL	NULL	p.A56fs	ENST00000380589.4	37	c.162	CCDS13034.1	20																																																																																			TMEM239	-	NULL	ENSG00000198326		0.627	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM239	HGNC	protein_coding	OTTHUMT00000077644.2		0	33	0	G	NM_080739		2795992	1	tier1		no_errors	ENST00000554164	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	0.954	-	-	2795992	G	-	2795992	7	5	164	1	0	1	0	1	0	0	0	0	2096	1335	47	0	164	0	C20orf141	20	2795992	Frame_Shift_Del	DEL	G	TCGA-VR-A8ER-01A-11D-A36J-09		2795992	60229528	150	41697											
STK4	6789	genome.wustl.edu	37	chr20	43623730	43623730	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctccctttctattttaGgataccatggccaagcggaa	9	13	7	12	1	2	0	0	0	2	0	4	2	3	2	3	3	2	0	3	3	5	5			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr20:43623730G>A	ENST00000372806.3	+	6	620		c.e6-1		STK4_ENST00000372801.1_Splice_Site|STK4_ENST00000499879.2_Splice_Site|STK4_ENST00000396731.4_Splice_Site	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4						apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|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)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TTCTATTTTAGGATACCATGG	0.393																																					GBM(187;1039 2137 11798 21916 33213)												0													123	121	122					20																	43623730		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.526-1G>A	20.37:g.43623730G>A			B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Splice_Site	SNP	-	e6-1	ENST00000372806.3	37	c.526-1	CCDS13341.1	20	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574498	0.86542	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK4	43057144	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.338000	0.96553	2.806000	0.96561	0.655000	0.94253	.	STK4	-	-	ENSG00000101109		0.393	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK4	HGNC	protein_coding	OTTHUMT00000080401.4	-	0	110	0	G	NM_006282	Intron	43623730	1	tier1	-	no_errors	ENST00000372806	ensembl	human	known	74_37	splice_site	5.19	73	4	SNP	1.000	A	A	43623730	G	A	43623730	5	1	164	1	0	0	0	0	0	0	1	0	15353	1014	35	3	547	3	STK4	20	43623730	Splice_Site	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	40827738	43623730	19401790	151	41698											
MMP9	4318	genome.wustl.edu	37	chr20	44637670	44637670	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcttccctggagacctGagaaccaatctcaccgacag	10	8	9	14	1	2	2	1	1	2	2	4	5	3	2	4	1	2	1	4	1	2	1			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr20:44637670G>T	ENST00000372330.3	+	1	124	c.105G>T	c.(103-105)ctG>ctT	p.L35L		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	35					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L35L(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CTGGAGACCTGAGAACCAATC	0.627																																																	1	Substitution - coding silent(1)	ovary(1)											48	40	43					20																	44637670		2203	4300	6503	SO:0001819	synonymous_variant	0				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.105G>T	20.37:g.44637670G>T			B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.L35	ENST00000372330.3	37	c.105	CCDS13390.1	20																																																																																			MMP9	-	superfamily_Peptidoglycan-bd-like	ENSG00000100985		0.627	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1		0	36	0	G			44637670	1			no_errors	ENST00000372330	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.003	T	T	44637670	G	T	44637670	2	4	164	1	0	0	0	0	0	0	0	1	9707	1277	45	3		3	MMP9	20	44637670	Silent	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	1013940	44637670	18387850	152	41699											
NFATC2	4773	genome.wustl.edu	37	chr20	50092014	50092014	+	Missense_Mutation	SNP	T	T	G	0	1	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	cgttgccctcatgttgttttTgggctccaagggtatctcca	5	15	10	11	1	2	0	1	0	1	0	4	0	3	0	3	2	1	5	3	2	2	5			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr20:50092014T>G	ENST00000396009.3	-	4	1735	c.1516A>C	c.(1516-1518)Aaa>Caa	p.K506Q	NFATC2_ENST00000609507.1_Missense_Mutation_p.K287Q|NFATC2_ENST00000609943.1_Missense_Mutation_p.K486Q|NFATC2_ENST00000414705.1_Missense_Mutation_p.K486Q|NFATC2_ENST00000610033.1_Missense_Mutation_p.K287Q|NFATC2_ENST00000371564.3_Missense_Mutation_p.K506Q	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	506	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K506Q(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ATGTTGTTTTTGGGCTCCAAG	0.577																																																	1	Substitution - Missense(1)	prostate(1)											181	186	184					20																	50092014		2203	4300	6503	SO:0001583	missense	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1516A>C	20.37:g.50092014T>G	ENSP00000379330:p.Lys506Gln		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.K506Q	ENST00000396009.3	37	c.1516	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597747	0.66332	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.45276	0.9;0.9;0.9	5.26	5.26	0.73747	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	L	0.43152	1.355	0.45528	D	0.998486	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.998;0.988;0.998;0.998	T	0.60500	-0.7251	10	0.72032	D	0.01	-14.8818	15.1948	0.73078	0.0:0.0:0.0:1.0	.	486;486;506;506	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	Q	506;506;486	ENSP00000360619:K506Q;ENSP00000379330:K506Q;ENSP00000396471:K486Q	ENSP00000360619:K506Q	K	-	1	0	NFATC2	49525421	1.000000	0.71417	0.982000	0.44146	0.941000	0.58515	3.350000	0.52224	1.982000	0.57802	0.477000	0.44152	AAA	NFATC2	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000101096		0.577	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	-	0	76	0	T	NM_012340		50092014	-1	tier1	-	no_errors	ENST00000396009	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.987	G	G	50092014	T	G	50092014	3	3	164	1	0	0	0	0	1	0	0	0	10401	1821	63	4	1337	4	NFATC2	20	50092014	Missense_Mutation	SNP	T	TCGA-VR-A8ER-01A-11D-A36J-09	5454344	50092014	12933506	153	41700											
ZNF831	128611	genome.wustl.edu	37	chr20	57770966	57770966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtgatgccccagcaccagGtgtctgagccagaatggaag	10	6	15	10	0	1	3	0	2	1	1	1	4	1	4	4	3	3	1	4	3	2	0	rs148237595	byFrequency	TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr20:57770966G>T	ENST00000371030.2	+	2	3781	c.3781G>T	c.(3781-3783)Gtg>Ttg	p.V1261L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1261							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)					CCAGCACCAGGTGTCTGAGCC	0.493																																																	0													182	181	181					20																	57770966		1936	4153	6089	SO:0001583	missense	0			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.3781G>T	20.37:g.57770966G>T	ENSP00000360069:p.Val1261Leu		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V1261L	ENST00000371030.2	37	c.3781	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442949	0.25987	.	.	ENSG00000124203	ENST00000371030	T	0.05786	3.39	4.69	-2.08	0.07254	.	2.088790	0.02161	N	0.058813	T	0.07728	0.0194	L	0.52573	1.65	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42258	-0.9462	10	0.72032	D	0.01	-0.1525	4.6516	0.12598	0.3349:0.2815:0.3836:0.0	.	1261	Q5JPB2	ZN831_HUMAN	L	1261	ENSP00000360069:V1261L	ENSP00000360069:V1261L	V	+	1	0	ZNF831	57204361	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.487000	0.22356	-0.423000	0.07394	-0.121000	0.15023	GTG	ZNF831	-	NULL	ENSG00000124203		0.493	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	-	0	67	0	G	NM_178457		57770966	1	tier1	-	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	5.19	73	4	SNP	0.000	T	T	57770966	G	T	57770966	3	4	164	1	0	0	0	0	1	0	0	0	18233	1261	44	3	3787	3	ZNF831	20	57770966	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	7678952	57770966	5254554	154	41701											
SFRS15	57466	genome.wustl.edu	37	chr21	33063188	33063188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcttgactttgtcccatgGaatataagtaacaccaagtt	13	12	8	8	0	0	1	0	1	0	0	1	2	1	2	2	2	1	3	2	2	5	6			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr21:33063188G>A	ENST00000286835.7	-	15	2189	c.1807C>T	c.(1807-1809)Cca>Tca	p.P603S	SCAF4_ENST00000399804.1_Missense_Mutation_p.P603S|SCAF4_ENST00000434667.3_Missense_Mutation_p.P588S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	603						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						TTGTCCCATGGAATATAAGTA	0.388																																																	0													196	189	191					21																	33063188		2203	4300	6503	SO:0001583	missense	0			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.1807C>T	21.37:g.33063188G>A	ENSP00000286835:p.Pro603Ser		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.P603S	ENST00000286835.7	37	c.1807	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484317	0.84854	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.72942	-0.65;-0.7;-0.44	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000004	D	0.86003	0.5829	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	0.87578	0.996;0.996;0.998;0.996	D	0.86672	0.1911	10	0.87932	D	0	-10.1012	20.2033	0.98269	0.0:0.0:1.0:0.0	.	588;603;603;603	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	S	588;603;603	ENSP00000402377:P588S;ENSP00000286835:P603S;ENSP00000382703:P603S	ENSP00000286835:P603S	P	-	1	0	SCAF4	31985059	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.779000	0.95612	0.655000	0.94253	CCA	SCAF4	-	NULL	ENSG00000156304		0.388	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	-	0	49	0	G	XM_047889		33063188	-1	tier1	-	no_errors	ENST00000286835	ensembl	human	known	74_37	missense	42.11	33	24	SNP	1.000	A	A	33063188	G	A	33063188	3	1	164	1	0	0	0	0	1	0	0	0	14216	1174	41	3	1660	3	SFRS15	21	33063188	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09		33063188	15066707	155	41702											
MICALL1	85377	genome.wustl.edu	37	chr22	38328811	38328811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctggcttccagagggccGtgaggatgacatgctggtgg	7	10	16	8	1	1	3	0	2	1	1	2	4	2	4	2	5	1	2	2	5	1	2			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr22:38328811G>A	ENST00000215957.6	+	12	2276	c.2150G>A	c.(2149-2151)cGt>cAt	p.R717H	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)					CCAGAGGGCCGTGAGGATGAC	0.637																																																	0													75	63	67					22																	38328811		2203	4300	6503	SO:0001583	missense	0			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.2150G>A	22.37:g.38328811G>A	ENSP00000215957:p.Arg717His		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.R717H	ENST00000215957.6	37	c.2150	CCDS13961.1	22	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984883	0.53934	.	.	ENSG00000100139	ENST00000215957;ENST00000402631;ENST00000424008	T;T;T	0.44083	0.93;0.93;0.93	5.17	2.92	0.33932	Domain of unknown function DUF3585 (1);	0.580733	0.17003	N	0.190850	T	0.25005	0.0607	N	0.25647	0.755	0.40785	D	0.983209	B	0.16603	0.018	B	0.15484	0.013	T	0.21655	-1.0239	10	0.56958	D	0.05	.	2.2797	0.04111	0.1741:0.1963:0.4955:0.1341	.	717	Q8N3F8	MILK1_HUMAN	H	717;144;31	ENSP00000215957:R717H;ENSP00000384608:R144H;ENSP00000416766:R31H	ENSP00000215957:R717H	R	+	2	0	MICALL1	36658757	0.286000	0.24305	0.998000	0.56505	0.982000	0.71751	0.836000	0.27545	1.302000	0.44855	0.591000	0.81541	CGT	MICALL1	-	pfam_DUF3585	ENSG00000100139		0.637	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4	-	0	87	0	G	NM_033386		38328811	1	tier1	-	no_errors	ENST00000215957	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.995	A	A	38328811	G	A	38328811	3	1	164	1	0	0	0	0	1	0	0	0	9611	1145	40	1	2196	1	MICALL1	22	38328811	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09		38328811	12975755	156	41703											
APOBEC3F	200316	genome.wustl.edu	37	chr22	39448625	39448625	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tttgtgtacaatgatgatgaGccattcaagccttggaaagg	12	12	11	6	0	1	3	1	3	0	0	1	4	1	4	2	2	3	1	2	2	4	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chr22:39448625G>T	ENST00000308521.5	+	7	1404	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	349					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ATGATGATGAGCCATTCAAGC	0.473																																																	0													185	186	185					22																	39448625		2203	4300	6503	SO:0001583	missense	0			BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.1047G>T	22.37:g.39448625G>T	ENSP00000309749:p.Glu349Asp		B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.E349D	ENST00000308521.5	37	c.1047	CCDS33648.1	22	.	.	.	.	.	.	.	.	.	.	.	12.79	2.044618	0.36085	.	.	ENSG00000128394	ENST00000308521	T	0.64085	-0.08	2.79	-4.78	0.03209	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.44052	0.1275	L	0.52759	1.655	0.09310	N	1	P	0.44521	0.837	B	0.40066	0.318	T	0.37337	-0.9710	9	0.23302	T	0.38	.	1.3834	0.02235	0.3049:0.1441:0.4046:0.1464	.	349	Q8IUX4	ABC3F_HUMAN	D	349	ENSP00000309749:E349D	ENSP00000309749:E349D	E	+	3	2	APOBEC3F	37778571	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.158000	0.10070	-0.816000	0.04340	-0.526000	0.04340	GAG	APOBEC3F	-	pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	ENSG00000128394		0.473	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3F	HGNC	protein_coding	OTTHUMT00000321216.1	-	0	47	0	G	NM_145298		39448625	1	tier1	-	no_errors	ENST00000308521	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.000	T	T	39448625	G	T	39448625	3	4	164	1	0	0	0	0	1	0	0	0	793	962	34	3	1212	3	APOBEC3F	22	39448625	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	1119814	39448625	11855941	157	41704											
APEX2	27301	genome.wustl.edu	37	chrX	55030234	55030234	+	Missense_Mutation	SNP	A	A	T	1	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	ccacattgtgtttttcagccAtgtgatcattctgggtgacc	7	15	9	10	0	3	2	2	2	1	0	3	2	3	2	3	1	1	1	3	1	0	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chrX:55030234A>T	ENST00000374987.3	+	5	638	c.572A>T	c.(571-573)cAt>cTt	p.H191L	APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	191					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						TTTTTCAGCCATGTGATCATT	0.552								Other BER factors																																									0													120	86	97					X																	55030234		2203	4300	6503	SO:0001583	missense	0			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.572A>T	X.37:g.55030234A>T	ENSP00000364126:p.His191Leu		Q9Y5X7	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1	p.H191L	ENST00000374987.3	37	c.572	CCDS14365.1	X	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560794	0.86335	.	.	ENSG00000169188	ENST00000374987	T	0.80738	-1.41	4.86	4.86	0.63082	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.87724	0.6249	M	0.76574	2.34	0.80722	D	1	D	0.67145	0.996	D	0.64410	0.925	D	0.88857	0.3323	10	0.62326	D	0.03	-19.8984	12.9858	0.58592	1.0:0.0:0.0:0.0	.	191	Q9UBZ4	APEX2_HUMAN	L	191	ENSP00000364126:H191L	ENSP00000364126:H191L	H	+	2	0	APEX2	55046959	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.666000	0.83877	1.869000	0.54173	0.441000	0.28932	CAT	APEX2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1	ENSG00000169188		0.552	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX2	HGNC	protein_coding	OTTHUMT00000056845.1	-	0	25	0	A			55030234	1	tier1	-	no_errors	ENST00000374987	ensembl	human	known	74_37	missense	75.00	5	15	SNP	1.000	T	T	55030234	A	T	55030234	3	4	164	1	0	0	0	0	1	0	0	0	770	217	8	5	590	5	APEX2	23	55030234	Missense_Mutation	SNP	A	TCGA-VR-A8ER-01A-11D-A36J-09		55030234	100240326	158	41705											
ZXDB	158586	genome.wustl.edu	37	chrX	57620063	57620063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtgccaggttctctgctCgcagtagcctctacattcac	6	12	9	14	1	3	0	1	0	2	0	5	0	3	0	2	1	4	5	2	1	2	4			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chrX:57620063C>T	ENST00000374888.1	+	1	1795	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	528	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GTTCTCTGCTCGCAGTAGCCT	0.522																																																	0													26	24	25					X																	57620063		2202	4295	6497	SO:0001583	missense	0			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.1582C>T	X.37:g.57620063C>T	ENSP00000364023:p.Arg528Cys		A8K151|Q9UBB3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R528C	ENST00000374888.1	37	c.1582	CCDS35313.1	X	.	.	.	.	.	.	.	.	.	.	.	15.45	2.836844	0.50951	.	.	ENSG00000198455	ENST00000374888	T	0.36157	1.27	3.5	2.59	0.31030	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	0.49355	0.1552	L	0.49699	1.58	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.46345	-0.9198	10	0.87932	D	0	.	9.1837	0.37156	0.2184:0.7815:0.0:0.0	.	528	P98169	ZXDB_HUMAN	C	528	ENSP00000364023:R528C	ENSP00000364023:R528C	R	+	1	0	ZXDB	57636788	0.998000	0.40836	0.997000	0.53966	0.994000	0.84299	2.580000	0.46068	0.619000	0.30197	0.483000	0.47432	CGC	ZXDB	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198455		0.522	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDB	HGNC	protein_coding	OTTHUMT00000056922.1	-	0	23	0	C	NM_007157		57620063	1	tier1	-	no_errors	ENST00000374888	ensembl	human	known	74_37	missense	62.96	10	17	SNP	1.000	T	T	57620063	C	T	57620063	3	4	164	1	0	0	0	0	1	0	0	0	18299	884	31	1	1584	1	ZXDB	23	57620063	Missense_Mutation	SNP	C	TCGA-VR-A8ER-01A-11D-A36J-09	2589829	57620063	97650497	159	41706											
NHSL2	340527	genome.wustl.edu	37	chrX	71359849	71359849	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cagaaaactaatcccaaccaGccaatcatgcctatggttac	15	8	5	13	0	1	1	1	0	0	1	2	1	2	1	4	1	5	1	4	1	7	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chrX:71359849G>T	ENST00000373677.1	+	2	2615	c.1353G>T	c.(1351-1353)caG>caT	p.Q451H	NHSL2_ENST00000535692.1_Missense_Mutation_p.Q451H|NHSL2_ENST00000540800.1_Missense_Mutation_p.Q817H|NHSL2_ENST00000510661.1_Missense_Mutation_p.Q586H			Q5HYW2	NHSL2_HUMAN	NHS-like 2	451										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					ATCCCAACCAGCCAATCATGC	0.507																																																	0													74	63	67					X																	71359849		2203	4300	6503	SO:0001583	missense	0					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.1353G>T	X.37:g.71359849G>T	ENSP00000362781:p.Gln451His		B2RN94	Missense_Mutation	SNP	NULL	p.Q817H	ENST00000373677.1	37	c.2451		X	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638335	0.29157	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.48201	1.44;0.82;0.82;0.82	5.41	3.62	0.41486	.	0.161601	0.42172	D	0.000741	T	0.55862	0.1947	L	0.45581	1.43	0.36916	D	0.891134	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71870	0.975;0.975;0.975	T	0.58132	-0.7690	10	0.38643	T	0.18	-8.0351	8.3466	0.32277	0.1953:0.0:0.8047:0.0	.	817;586;451	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	H	817;451;586;451	ENSP00000444617:Q817H;ENSP00000362781:Q451H;ENSP00000424079:Q586H;ENSP00000444914:Q451H	ENSP00000362781:Q451H	Q	+	3	2	NHSL2	71276574	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.960000	0.29253	0.625000	0.30304	0.600000	0.82982	CAG	NHSL2	-	NULL	ENSG00000204131		0.507	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	-	0	32	0	G	NM_001013627		71359849	1	tier1	-	no_errors	ENST00000540800	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.999	T	T	71359849	G	T	71359849	3	4	164	1	0	0	0	0	1	0	0	0	10451	962	34	3	2473	3	NHSL2	23	71359849	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	13739786	71359849	83910711	160	41707											
DOCK11	139818	genome.wustl.edu	37	chrX	117819759	117819759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatggttccccaagatacGctgaagtgtgaggaaatgca	12	10	12	7	1	0	3	0	2	0	1	1	4	1	4	2	2	2	4	2	2	5	3			TCGA-VR-A8ER-01A-11D-A36J-09	TCGA-VR-A8ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4287c063-759e-4890-b9ae-7fd4d4024def	df77230e-6025-40d1-9b1a-862fdea0faeb	g.chrX:117819759G>A	ENST00000276202.7	+	53	6274	c.6211G>A	c.(6211-6213)Gct>Act	p.A2071T	DOCK11_ENST00000276204.6_Missense_Mutation_p.A2075T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2071					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						CCCAAGATACGCTGAAGTGTG	0.393													G|||	1	0.000264901	8e-04	0	3775	,	,		15365	0		0	False		,,,				2504	0																0													198	165	176					X																	117819759		2203	4300	6503	SO:0001583	missense	0			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.6211G>A	X.37:g.117819759G>A	ENSP00000276202:p.Ala2071Thr		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A2071T	ENST00000276202.7	37	c.6211	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	8.494	0.862656	0.17178	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18174	2.23;2.23	6.17	-5.1	0.02911	.	1.026890	0.07718	N	0.943122	T	0.08088	0.0202	N	0.12182	0.205	0.09310	N	1	B;B	0.15719	0.014;0.014	B;B	0.06405	0.002;0.002	T	0.37337	-0.9710	10	0.31617	T	0.26	-40.6616	7.9987	0.30284	0.5978:0.0:0.2057:0.1965	.	2075;2071	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	2075;2071	ENSP00000276204:A2075T;ENSP00000276202:A2071T	ENSP00000276202:A2071T	A	+	1	0	DOCK11	117703787	0.645000	0.27286	0.005000	0.12908	0.402000	0.30811	0.273000	0.18662	-1.484000	0.01856	-0.994000	0.02522	GCT	DOCK11	-	NULL	ENSG00000147251		0.393	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	-	0	35	0	G	NM_144658		117819759	1	tier1	-	no_errors	ENST00000276202	ensembl	human	known	74_37	missense	72.41	8	21	SNP	0.000	A	A	117819759	G	A	117819759	3	1	164	1	0	0	0	0	1	0	0	0	4700	1087	38	1	6421	1	DOCK11	23	117819759	Missense_Mutation	SNP	G	TCGA-VR-A8ER-01A-11D-A36J-09	46459910	117819759	37450801	161	41708											
PADI3	51702	genome.wustl.edu	37	chr1	17596826	17596826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgaggagcgcttcttcGtggaaggcctgtccttccct	5	11	14	11	2	1	1	0	1	1	0	4	4	3	4	3	4	1	1	3	4	1	3	rs371752333		TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr1:17596826G>T	ENST00000375460.3	+	7	791	c.751G>T	c.(751-753)Gtg>Ttg	p.V251L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	251					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCGCTTCTTCGTGGAAGGCCT	0.572																																																	0													139	114	123					1																	17596826		2203	4300	6503	SO:0001583	missense	0			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.751G>T	1.37:g.17596826G>T	ENSP00000364609:p.Val251Leu		Q58EY7|Q70SX5	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.V251L	ENST00000375460.3	37	c.751	CCDS179.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950447	0.73787	.	.	ENSG00000142619	ENST00000375460	T	0.22945	1.93	5.69	4.77	0.60923	Protein-arginine deiminase (PAD), central domain (2);	0.063731	0.64402	D	0.000006	T	0.33904	0.0879	M	0.80422	2.495	0.49389	D	0.999785	B	0.25850	0.136	B	0.28784	0.094	T	0.16571	-1.0398	10	0.45353	T	0.12	-27.418	13.7133	0.62680	0.0762:0.0:0.9237:0.0	.	251	Q9ULW8	PADI3_HUMAN	L	251	ENSP00000364609:V251L	ENSP00000364609:V251L	V	+	1	0	PADI3	17469413	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.550000	0.60733	2.684000	0.91462	0.591000	0.81541	GTG	PADI3	-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub	ENSG00000142619		0.572	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1		0	46	0	G			17596826	1			no_errors	ENST00000375460	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	17596826	G	T	17596826	3	4	165	1	0	0	0	0	1	0	0	0	11418	1145	40	2	777	2	PADI3	1	17596826	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09		17596826	231653795	1	41709											
WDTC1	23038	genome.wustl.edu	37	chr1	27609833	27609833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcactctgctttcagcttgCtggcctctggttccgatgac	4	14	9	14	1	4	1	2	1	2	0	5	2	5	1	2	2	3	4	2	2	0	3			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr1:27609833C>T	ENST00000319394.3	+	5	719	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	WDTC1_ENST00000361771.3_Silent_p.L62L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	62					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TTTCAGCTTGCTGGCCTCTGG	0.517																																																	0													91	80	84					1																	27609833		2203	4300	6503	SO:0001819	synonymous_variant	0			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.184C>T	1.37:g.27609833C>T			D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L62	ENST00000319394.3	37	c.184		1																																																																																			WDTC1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000142784		0.517	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding			0	39	0	C	NM_015023		27609833	1			no_errors	ENST00000319394	ensembl	human	known	74_37	silent	10.00	26	3	SNP	1.000	T	T	27609833	C	T	27609833	2	4	165	1	0	0	0	0	0	0	0	1	17391	796	28	3		3	WDTC1	1	27609833	Silent	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	10013007	27609833	221640788	2	41710											
INTS7	25896	genome.wustl.edu	37	chr1	212142051	212142052	+	Splice_Site	INS	-	-	G																															cagtggtgtactagctgcctINSgggaaaaaaaaaaaaaagag																								rs201458058		TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr1:212142051_212142052insG	ENST00000366994.3	-	14	1920		c.e14-2		INTS7_ENST00000366993.3_Splice_Site|INTS7_ENST00000469606.1_Splice_Site|INTS7_ENST00000366992.3_Splice_Site|INTS7_ENST00000440600.2_Splice_Site	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7						cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ACTAGCTGCCTGGGAAAAAAAA	0.366																																																	0									,,,	327,3939		18,291,1824					,,,	4.1	0.9		dbSNP_132	41	301,7953		13,275,3839	no	splice-3,splice-3,splice-3,splice-3	INTS7	NM_015434.3,NM_001199812.1,NM_001199811.1,NM_001199809.1	,,,	31,566,5663	A1A1,A1R,RR		3.6467,7.6653,5.016	,,,	,,,		628,11892				SO:0001630	splice_region_variant	0			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1816-2->C	1.37:g.212142054_212142054dupG			B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Splice_Site	INS	-	e13-2	ENST00000366994.3	37	c.1669-3_1669-2	CCDS1501.1	1																																																																																			INTS7	-	-	ENSG00000143493		0.366	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1		0	14	0	-	NM_015434	Intron	212142052	-1	tier1		no_errors	ENST00000440600	ensembl	human	known	74_37	splice_site_ins	28.57	10	4	INS	0.998:0.652	G	G	212142052	-	G	212142051	8	5	165	1	0	1	1	0	0	0	1	0	7810	1594	55	0	1102	0	INTS7	1	212142051	Splice_Site	INS	-	TCGA-VR-A8ET-01A-11D-A403-09	184532218	212142051	37108570	3	41711											
PROM2	150696	genome.wustl.edu	37	chr2	95943191	95943192	+	Missense_Mutation	DNP	GC	GC	AG																															gccgggcagcaggacctggaGccagccatccgggaacaccg																										TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr2:95943191_95943192GC>AG	ENST00000317620.9	+	7	985_986	c.852_853GC>AG	c.(850-855)gaGCca>gaAGca	p.P285A	PROM2_ENST00000542147.1_Missense_Mutation_p.P285A|PROM2_ENST00000403131.2_Missense_Mutation_p.P285A|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000317668.4_Missense_Mutation_p.P285A	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	285					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						AGGACCTGGAGCCAGCCATCCG	0.663																																																	0																																										SO:0001583	missense	0			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	Exception_encountered	2.37:g.95943191_95943192delinsAG	ENSP00000318270:p.Pro285Ala		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent|Missense_Mutation	SNP	pfam_Prominin	p.E284|p.P285A	ENST00000317620.9	37	c.852|c.853	CCDS2012.1	2																																																																																			PROM2	-	pfam_Prominin	ENSG00000155066		0.663	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1		0	30	0	G|C	NM_144707		95943191|95943192	1			no_errors	ENST00000317620	ensembl	human	known	74_37	silent|missense	11.11|11.54	24|23	3	SNP	0.001	A|G	AG	95943192	GC	AG	95943191	3	1	165	1	0	0	0	0	1	0	0	0	12598	962	34	3	878	3	PROM2	2	95943191	Missense_Mutation	DNP	GC	TCGA-VR-A8ET-01A-11D-A403-09		95943191	147256182	4	41712											
C2orf40	84417	genome.wustl.edu	37	chr2	106690395	106690395	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagaataaagccaaagaaTtccttggcagcctgaagcgc	15	7	10	9	1	0	3	0	2	0	2	1	4	1	3	3	1	3	1	3	1	6	3			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr2:106690395T>G	ENST00000238044.3	+	3	290	c.181T>G	c.(181-183)Ttc>Gtc	p.F61V	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000409944.1_Missense_Mutation_p.F25V	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	61					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						AGCCAAAGAATTCCTTGGCAG	0.517																																																	0													107	120	115					2																	106690395		2203	4300	6503	SO:0001583	missense	0			BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.181T>G	2.37:g.106690395T>G	ENSP00000238044:p.Phe61Val		D3DVK2	Missense_Mutation	SNP	NULL	p.F61V	ENST00000238044.3	37	c.181	CCDS2072.1	2	.	.	.	.	.	.	.	.	.	.	T	18.88	3.718222	0.68844	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.58358	0.34;0.34;0.34	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	M	0.76328	2.33	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.76570	-0.2911	10	0.87932	D	0	-25.9431	15.827	0.78718	0.0:0.0:0.0:1.0	.	61	Q9H1Z8	AUGN_HUMAN	V	25;61;63	ENSP00000386421:F25V;ENSP00000238044:F61V;ENSP00000388664:F63V	ENSP00000238044:F61V	F	+	1	0	C2orf40	106056827	1.000000	0.71417	0.111000	0.21465	0.488000	0.33401	6.553000	0.73918	2.129000	0.65627	0.533000	0.62120	TTC	C2orf40	-	NULL	ENSG00000119147		0.517	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf40	HGNC	protein_coding	OTTHUMT00000253515.2	-	0	58	0	T	NM_032411		106690395	1	tier1	-	no_errors	ENST00000238044	ensembl	human	known	74_37	missense	10.71	50	6	SNP	0.988	G	G	106690395	T	G	106690395	3	3	165	1	0	0	0	0	1	0	0	0	2172	1493	52	4	191	4	C2orf40	2	106690395	Missense_Mutation	SNP	T	TCGA-VR-A8ET-01A-11D-A403-09	10747204	106690395	136508978	5	41713											
NCKAP5	344148	genome.wustl.edu	37	chr2	133540922	133540922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcagctggggagacttCatgagcactttgagtcccac	9	9	12	11	0	1	4	1	3	0	1	2	5	2	4	1	2	3	3	1	2	0	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr2:133540922C>A	ENST00000409261.1	-	14	3835	c.3462G>T	c.(3460-3462)atG>atT	p.M1154I	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.M1154I|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1154										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGGGAGACTTCATGAGCACTT	0.488																																																	0													101	101	101					2																	133540922		1987	4154	6141	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3462G>T	2.37:g.133540922C>A	ENSP00000387128:p.Met1154Ile		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.M1154I	ENST00000409261.1	37	c.3462	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267658	0.23136	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09163	3.01;3.01	5.26	0.743	0.18347	.	0.206931	0.23279	U	0.049921	T	0.06005	0.0156	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35201	-0.9798	10	0.29301	T	0.29	.	2.7162	0.05188	0.148:0.2099:0.4845:0.1577	.	1154	O14513	NCKP5_HUMAN	I	1154	ENSP00000387128:M1154I;ENSP00000380603:M1154I	ENSP00000380603:M1154I	M	-	3	0	NCKAP5	133257392	0.926000	0.31397	1.000000	0.80357	0.900000	0.52787	-0.105000	0.10907	0.287000	0.22375	-0.150000	0.13652	ATG	NCKAP5	-	NULL	ENSG00000176771		0.488	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1		0	31	0	C	NM_207481		133540922	-1			no_errors	ENST00000317721	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.999	A	A	133540922	C	A	133540922	3	1	165	1	0	0	0	0	1	0	0	0	10262	826	29	3	2295	3	NCKAP5	2	133540922	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	26850527	133540922	109658451	6	41714											
GORASP2	26003	genome.wustl.edu	37	chr2	171818224	171818224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaaaccagtccctcacttCtgtgccaccaatgaatccag	12	9	6	14	0	2	1	1	1	1	0	4	1	4	1	5	0	2	1	5	0	4	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr2:171818224C>T	ENST00000234160.4	+	8	1690	c.875C>T	c.(874-876)tCt>tTt	p.S292F	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.S304F	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	292	Pro-rich.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TCCCTCACTTCTGTGCCACCA	0.393																																																	0													263	219	234					2																	171818224		2203	4300	6503	SO:0001583	missense	0				CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"golgi reassembly stacking protein 2, 55 kDa"			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.875C>T	2.37:g.171818224C>T	ENSP00000234160:p.Ser292Phe		B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	pfam_GRASP55/65_PDZ,superfamily_PDZ	p.S304F	ENST00000234160.4	37	c.911	CCDS33325.1	2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239087	0.79800	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.48836	0.82;0.8	6.16	5.27	0.74061	.	0.171432	0.56097	D	0.000036	T	0.46678	0.1405	M	0.65975	2.015	0.46131	D	0.998885	B;B;B	0.31680	0.22;0.335;0.22	B;B;B	0.23852	0.03;0.049;0.03	T	0.49072	-0.8977	10	0.59425	D	0.04	-15.3443	15.1706	0.72869	0.1411:0.8589:0.0:0.0	.	248;304;292	B4DNR1;B4DKT0;Q9H8Y8	.;.;GORS2_HUMAN	F	292;304	ENSP00000234160:S292F;ENSP00000410208:S304F	ENSP00000234160:S292F	S	+	2	0	GORASP2	171526470	0.792000	0.28813	0.996000	0.52242	0.993000	0.82548	3.416000	0.52707	1.580000	0.49851	0.650000	0.86243	TCT	GORASP2	-	pfam_GRASP55/65_PDZ	ENSG00000115806		0.393	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GORASP2	HGNC	protein_coding	OTTHUMT00000333719.2		0	58	0	C			171818224	1			no_errors	ENST00000452526	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.989	T	T	171818224	C	T	171818224	3	4	165	1	0	0	0	0	1	0	0	0	6602	913	32	3	905	3	GORASP2	2	171818224	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	38277302	171818224	71381149	7	41715											
TTN	7273	genome.wustl.edu	37	chr2	179424596	179424596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcatttcactgtcaatatCaaataaaggttcttcttctc	11	16	3	11	0	7	0	4	0	3	0	8	0	7	0	1	1	0	1	1	1	5	6			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr2:179424596C>G	ENST00000591111.1	-	276	81564	c.81340G>C	c.(81340-81342)Gat>Cat	p.D27114H	TTN_ENST00000359218.5_Missense_Mutation_p.D19815H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D28755H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D19882H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D19690H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D26187H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27114	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)			CTGTCAATATCAAATAAAGGT	0.433																																																	0													126	123	124					2																	179424596		1938	4138	6076	SO:0001583	missense	0			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.81340G>C	2.37:g.179424596C>G	ENSP00000465570:p.Asp27114His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D26187H	ENST00000591111.1	37	c.78559		2	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183275	0.38511	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64803	-0.12;0.11;0.09;0.08	5.87	5.87	0.94306	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75810	0.3900	L	0.55213	1.73	0.58432	D	0.999999	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.59948	0.866;0.866;0.866;0.866	T	0.75260	-0.3380	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	19690;19815;19882;27114	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	26187;19690;19882;19815;19687	ENSP00000343764:D26187H;ENSP00000434586:D19690H;ENSP00000340554:D19882H;ENSP00000352154:D19815H	ENSP00000340554:D19882H	D	-	1	0	TTN	179132842	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.857000	0.62939	2.941000	0.99782	0.655000	0.94253	GAT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	39	0	C	NM_133378		179424596	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	28.00	18	7	SNP	1.000	G	G	179424596	C	G	179424596	3	3	165	1	0	0	0	0	1	0	0	0	16784	826	29	5	21864	5	TTN	2	179424596	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	7606372	179424596	63774777	8	41716											
FZD7	8324	genome.wustl.edu	37	chr2	202899867	202899867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcgtgggccagaacacgtCggacggctccgggggcccag	6	4	17	14	5	0	1	0	0	0	1	2	2	1	2	3	5	2	1	3	5	1	0	rs185267840		TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr2:202899867C>T	ENST00000286201.1	+	1	558	c.497C>T	c.(496-498)tCg>tTg	p.S166L	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	166					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						CAGAACACGTCGGACGGCTCC	0.721											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15	18	17					2																	202899867		2180	4272	6452	SO:0001583	missense	0			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.497C>T	2.37:g.202899867C>T	ENSP00000286201:p.Ser166Leu	2133	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S166L	ENST00000286201.1	37	c.497	CCDS2351.1	2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.11	3.030812	0.54790	.	.	ENSG00000155760	ENST00000286201	T	0.76709	-1.04	5.54	5.54	0.83059	Frizzled domain (1);	0.437679	0.24752	N	0.035892	T	0.74974	0.3787	L	0.58810	1.83	0.80722	D	1	P	0.42757	0.789	B	0.36092	0.217	T	0.76578	-0.2908	10	0.41790	T	0.15	.	19.4956	0.95070	0.0:1.0:0.0:0.0	.	166	O75084	FZD7_HUMAN	L	166	ENSP00000286201:S166L	ENSP00000286201:S166L	S	+	2	0	FZD7	202608112	0.980000	0.34600	0.943000	0.38184	0.478000	0.33099	4.079000	0.57613	2.607000	0.88179	0.563000	0.77884	TCG	FZD7	-	superfamily_Frizzled_dom	ENSG00000155760		0.721	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD7	HGNC	protein_coding	OTTHUMT00000256314.1		0	56	0	C	NM_003507		202899867	1			no_errors	ENST00000286201	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.999	T	T	202899867	C	T	202899867	3	4	165	1	0	0	0	0	1	0	0	0	6159	893	31	1	499	1	FZD7	2	202899867	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	23475271	202899867	40299506	9	41717											
BSN	8927	genome.wustl.edu	37	chr3	49694019	49694019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcagatgctgctcctgggGgtggcagtggggccctcagc	5	7	17	12	0	1	1	1	0	0	1	2	1	2	1	2	5	4	4	2	5	0	0			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr3:49694019G>T	ENST00000296452.4	+	5	7144	c.7030G>T	c.(7030-7032)Ggt>Tgt	p.G2344C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2344					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)		TGCTCCTGGGGGTGGCAGTGG	0.647																																																	0													10	12	11					3																	49694019		2185	4276	6461	SO:0001583	missense	0			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.7030G>T	3.37:g.49694019G>T	ENSP00000296452:p.Gly2344Cys		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.G2344C	ENST00000296452.4	37	c.7030	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	3.665	-0.068791	0.07228	.	.	ENSG00000164061	ENST00000296452	T	0.19532	2.14	5.44	1.47	0.22746	.	0.484814	0.21546	N	0.072806	T	0.10252	0.0251	N	0.14661	0.345	0.09310	N	1	P	0.40660	0.726	B	0.36959	0.237	T	0.15378	-1.0439	10	0.62326	D	0.03	-0.0038	6.2695	0.20947	0.2984:0.2635:0.4381:0.0	.	2344	Q9UPA5	BSN_HUMAN	C	2344	ENSP00000296452:G2344C	ENSP00000296452:G2344C	G	+	1	0	BSN	49669023	0.534000	0.26362	0.244000	0.24202	0.964000	0.63967	1.361000	0.34136	0.400000	0.25396	0.655000	0.94253	GGT	BSN	-	NULL	ENSG00000164061		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	-	0	31	0	G	NM_003458		49694019	1	tier1	-	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.000	T	T	49694019	G	T	49694019	3	4	165	1	0	0	0	0	1	0	0	0	1534	1232	43	3	7048	3	BSN	3	49694019	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09		49694019	148328411	10	41718											
ZBTB20	26137	genome.wustl.edu	37	chr3	114070249	114070249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtagcccgactccgtgtCgctgctctggcctgacgtgc	4	9	13	15	4	1	1	0	1	1	0	3	2	2	1	3	2	3	3	3	2	1	1			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr3:114070249C>T	ENST00000474710.1	-	4	854	c.676G>A	c.(676-678)Gac>Aac	p.D226N	ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.D153N|ZBTB20_ENST00000357258.3_Missense_Mutation_p.D153N|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.D153N|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.D153N|ZBTB20_ENST00000462705.1_Missense_Mutation_p.D153N|ZBTB20_ENST00000393785.2_Missense_Mutation_p.D153N	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	226						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)		GACTCCGTGTCGCTGCTCTGG	0.667																																					NSCLC(69;748 1344 9802 11203 30933)												0													80	71	74					3																	114070249		2203	4300	6503	SO:0001583	missense	0			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.676G>A	3.37:g.114070249C>T	ENSP00000419153:p.Asp226Asn		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D226N	ENST00000474710.1	37	c.676	CCDS54626.1	3	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738772	0.89573	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.09911	2.95;2.95;2.95;2.95;2.93;2.95;2.95	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.01175	-1.1428	10	0.87932	D	0	.	19.3116	0.94189	0.0:1.0:0.0:0.0	.	226	Q9HC78	ZBT20_HUMAN	N	153;153;153;153;226;153;153	ENSP00000420324:D153N;ENSP00000377375:D153N;ENSP00000418092:D153N;ENSP00000419902:D153N;ENSP00000419153:D226N;ENSP00000349803:D153N;ENSP00000417307:D153N	ENSP00000349803:D153N	D	-	1	0	ZBTB20	115552939	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.286000	0.78671	2.808000	0.96608	0.650000	0.86243	GAC	ZBTB20	-	NULL	ENSG00000181722		0.667	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	-	0	25	0	C	NM_015642		114070249	-1	tier1	-	no_errors	ENST00000474710	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	T	T	114070249	C	T	114070249	3	4	165	1	0	0	0	0	1	0	0	0	17577	884	31	1	1557	1	ZBTB20	3	114070249	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	64376230	114070249	83952181	11	41719											
LRRC33	375387	genome.wustl.edu	37	chr3	196386811	196386811	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ctggagcgcatcagccgcggCgccttccaggagcaaggtca	8	5	14	14	4	2	0	2	0	0	0	3	2	3	2	3	4	3	2	3	4	1	1			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr3:196386811C>T	ENST00000328557.4	+	3	500	c.297C>T	c.(295-297)ggC>ggT	p.G99G		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	99					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TCAGCCGCGGCGCCTTCCAGG	0.657																																																	0													44	42	43					3																	196386811		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.297C>T	3.37:g.196386811C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G99	ENST00000328557.4	37	c.297	CCDS3319.1	3																																																																																			NRROS	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000174004		0.657	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRROS	HGNC	protein_coding	OTTHUMT00000340676.1		0	49	0	C	NM_198565		196386811	1			no_errors	ENST00000328557	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.000	T	T	196386811	C	T	196386811	2	4	165	1	0	0	0	0	0	0	0	1	9023	755	27	1		1	LRRC33	3	196386811	Silent	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	82316562	196386811	1635619	12	41720											
KIAA0922	23240	genome.wustl.edu	37	chr4	154395024	154395024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgaagagggtctggaggagCcttctcaagaacagaggtaa	13	7	14	7	0	2	4	1	1	2	3	3	6	2	6	1	4	2	1	1	4	4	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr4:154395024C>A	ENST00000409663.3	+	3	275	c.223C>A	c.(223-225)Cct>Act	p.P75T	KIAA0922_ENST00000440693.1_Missense_Mutation_p.P75T|KIAA0922_ENST00000409959.3_Missense_Mutation_p.P75T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	75						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)				TCTGGAGGAGCCTTCTCAAGA	0.453																																																	0													138	165	157					4																	154395024		692	1591	2283	SO:0001583	missense	0			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.223C>A	4.37:g.154395024C>A	ENSP00000386574:p.Pro75Thr		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.P75T	ENST00000409663.3	37	c.223	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	C	8.412	0.844390	0.16963	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959	T;T;T	0.16743	2.58;2.32;2.58	5.1	4.26	0.50523	.	.	.	.	.	T	0.11324	0.0276	N	0.22421	0.69	0.20638	N	0.999876	B;B	0.17465	0.022;0.006	B;B	0.15870	0.014;0.006	T	0.30822	-0.9965	9	0.15066	T	0.55	.	10.7136	0.46000	0.0:0.9103:0.0:0.0897	.	75;75	A2VDJ0-5;A2VDJ0	.;T131L_HUMAN	T	75	ENSP00000386574:P75T;ENSP00000409663:P75T;ENSP00000386787:P75T	ENSP00000386574:P75T	P	+	1	0	KIAA0922	154614474	0.204000	0.23447	0.851000	0.33527	0.898000	0.52572	1.837000	0.39201	1.289000	0.44618	0.561000	0.74099	CCT	KIAA0922	-	NULL	ENSG00000121210		0.453	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	-	0	79	0	C	NM_015196		154395024	1	tier1	-	no_errors	ENST00000409959	ensembl	human	known	74_37	missense	16.67	55	11	SNP	0.982	A	A	154395024	C	A	154395024	3	1	165	1	0	0	0	0	1	0	0	0	8228	739	26	3	233	3	KIAA0922	4	154395024	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09		154395024	36759252	13	41721											
GZMK	3003	genome.wustl.edu	37	chr5	54320619	54320619	+	Frame_Shift_Del	DEL	G	G	-																															cacagtgggtgctgacagcaGcccactgccaatatcggtga																										TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr5:54320619delG	ENST00000231009.2	+	2	266	c.196delG	c.(196-198)gccfs	p.A66fs	CTD-2313F11.1_ENST00000371487.3_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000607910.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|ESM1_ENST00000598310.1_5'Flank|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000596909.2_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	66	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)				GCTGACAGCAGCCCACTGCCA	0.473																																																	0													51	52	52					5																	54320619		2203	4300	6503	SO:0001589	frameshift_variant	0			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.196delG	5.37:g.54320619delG	ENSP00000231009:p.Ala66fs		B2R563	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A66fs	ENST00000231009.2	37	c.196	CCDS3964.1	5																																																																																			GZMK	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000113088		0.473	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMK	HGNC	protein_coding	OTTHUMT00000214098.1		0	44	0	G	NM_002104		54320619	1	tier1		no_errors	ENST00000231009	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	0.999	-	-	54320619	G	-	54320619	7	5	165	1	0	1	0	1	0	0	0	0	6945	971	34	0	202	0	GZMK	5	54320619	Frame_Shift_Del	DEL	G	TCGA-VR-A8ET-01A-11D-A403-09		54320619	126594641	14	41722											
MRPS36	92259	genome.wustl.edu	37	chr5	68522214	68522214	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcctgacagaagagacaAtcctaaacccaatggtgagt	14	9	9	9	0	0	4	0	2	0	2	2	5	2	4	3	1	1	1	3	1	5	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr5:68522214A>G	ENST00000256441.4	+	2	162	c.92A>G	c.(91-93)aAt>aGt	p.N31S	MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_Intron|MRPS36_ENST00000602380.1_5'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	31					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		AGAAGAGACAATCCTAAACCC	0.264																																																	0													89	88	88					5																	68522214		2203	4300	6503	SO:0001583	missense	0				CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"Mitochondrial ribosomal proteins / small subunits"	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.92A>G	5.37:g.68522214A>G	ENSP00000256441:p.Asn31Ser		Q9H2H4	Missense_Mutation	SNP	NULL	p.N31S	ENST00000256441.4	37	c.92	CCDS34174.1	5	.	.	.	.	.	.	.	.	.	.	A	2.608	-0.291385	0.05568	.	.	ENSG00000134056	ENST00000256441	.	.	.	5.03	3.85	0.44370	.	0.505520	0.21595	N	0.072039	T	0.25232	0.0613	N	0.08118	0	0.80722	D	1	B	0.15930	0.015	B	0.13407	0.009	T	0.05886	-1.0858	9	0.08179	T	0.78	.	5.7991	0.18403	0.6559:0.1757:0.0:0.1684	.	31	P82909	RT36_HUMAN	S	31	.	ENSP00000256441:N31S	N	+	2	0	MRPS36	68557970	1.000000	0.71417	0.998000	0.56505	0.360000	0.29518	2.325000	0.43840	0.916000	0.36871	-0.336000	0.08194	AAT	MRPS36	-	NULL	ENSG00000134056		0.264	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS36	HGNC	protein_coding	OTTHUMT00000368940.1	-	0	130	0	A	NM_033281		68522214	1	tier1	-	no_errors	ENST00000256441	ensembl	human	known	74_37	missense	7.41	74	6	SNP	0.996	G	G	68522214	A	G	68522214	3	3	165	1	0	0	0	0	1	0	0	0	9883	101	4	4	98	4	MRPS36	5	68522214	Missense_Mutation	SNP	A	TCGA-VR-A8ET-01A-11D-A403-09	14201595	68522214	112393046	15	41723											
SNCAIP	9627	genome.wustl.edu	37	chr5	121758673	121758673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccagtgaagcgggtttcgCcactgaaacatcagccagag	11	6	12	12	2	1	3	1	2	0	1	2	3	1	3	3	1	3	1	3	1	2	1			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr5:121758673C>A	ENST00000261368.8	+	4	503	c.241C>A	c.(241-243)Cca>Aca	p.P81T	SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P81T|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.P128T|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P128T|SNCAIP_ENST00000503116.2_Missense_Mutation_p.P128T|SNCAIP_ENST00000504884.2_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	81					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)		GCGGGTTTCGCCACTGAAACA	0.483																																																	0													63	64	64					5																	121758673		2203	4300	6503	SO:0001583	missense	0			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.241C>A	5.37:g.121758673C>A	ENSP00000261368:p.Pro81Thr		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P128T	ENST00000261368.8	37	c.382	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551124	0.86127	.	.	ENSG00000064692	ENST00000514467;ENST00000506272;ENST00000508681;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.66	5.66	0.87406	.	0.052583	0.85682	D	0.000000	T	0.49355	0.1552	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.986	D;D;D;P	0.91635	0.998;0.999;0.996;0.726	T	0.47623	-0.9103	10	0.87932	D	0	-15.9391	19.7538	0.96281	0.0:1.0:0.0:0.0	.	81;128;128;81	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	T	81;128;81;81;81;128;81;128;128	ENSP00000427090:P81T;ENSP00000426551:P128T;ENSP00000422610:P81T;ENSP00000422106:P81T;ENSP00000261368:P81T;ENSP00000368848:P128T;ENSP00000368851:P81T;ENSP00000261367:P128T;ENSP00000423199:P128T	ENSP00000261367:P128T	P	+	1	0	SNCAIP	121786572	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.111000	0.77077	2.690000	0.91761	0.655000	0.94253	CCA	SNCAIP	-	NULL	ENSG00000064692		0.483	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	-	0	56	0	C			121758673	1	tier1	-	no_errors	ENST00000379533	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A	A	121758673	C	A	121758673	3	1	165	1	0	0	0	0	1	0	0	0	14886	739	26	3	251	3	SNCAIP	5	121758673	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	53236459	121758673	59156587	16	41724											
JAKMIP2	9832	genome.wustl.edu	37	chr5	147040519	147040519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactgtactaaccagcctccGaatatcccgctccgactccc	9	9	5	18	3	0	0	0	0	0	0	4	2	4	0	6	0	4	2	6	0	5	4			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr5:147040519G>A	ENST00000265272.5	-	3	1086	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R165W|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R207W	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	207						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCCTCCGAATATCCCGC	0.502																																																	0													130	123	125					5																	147040519		2203	4300	6503	SO:0001583	missense	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.619C>T	5.37:g.147040519G>A	ENSP00000265272:p.Arg207Trp		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.R207W	ENST00000265272.5	37	c.619	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397496	0.83120	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.37058	1.22;1.22;1.22	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.988;0.988;0.988	T	0.63985	-0.6513	10	0.87932	D	0	.	14.3424	0.66636	0.0:0.0:0.8515:0.1485	.	165;207;207;207	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	W	207;207;165;207	ENSP00000421398:R207W;ENSP00000265272:R207W;ENSP00000328989:R165W	ENSP00000265272:R207W	R	-	1	2	JAKMIP2	147020712	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	CGG	JAKMIP2	-	NULL	ENSG00000176049		0.502	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	-	0	52	0	G	NM_014790		147040519	-1	tier1	-	no_errors	ENST00000265272	ensembl	human	known	74_37	missense	17.14	29	6	SNP	1.000	A	A	147040519	G	A	147040519	3	1	165	1	0	0	0	0	1	0	0	0	7968	1057	37	1	1889	1	JAKMIP2	5	147040519	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	25281846	147040519	33874741	17	41725											
NMUR2	56923	genome.wustl.edu	37	chr5	151784588	151784588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggccagatactcctcGgtgctgttcaggtgtttctg	7	12	13	9	1	2	1	1	0	1	1	4	2	3	2	2	4	2	3	2	4	2	3			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr5:151784588G>A	ENST00000255262.3	-	1	252	c.87C>T	c.(85-87)acC>acT	p.T29T	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	29					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GATACTCCTCGGTGCTGTTCA	0.512																																																	0													96	99	98					5																	151784588		2203	4300	6503	SO:0001819	synonymous_variant	0			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.87C>T	5.37:g.151784588G>A			Q7LC54|Q96AM5|Q9NRA6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn	p.T29	ENST00000255262.3	37	c.87	CCDS4321.1	5																																																																																			NMUR2	-	NULL	ENSG00000132911		0.512	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR2	HGNC	protein_coding	OTTHUMT00000252439.1		0	54	0	G	NM_020167		151784588	-1			no_errors	ENST00000255262	ensembl	human	known	74_37	silent	10.34	26	3	SNP	0.004	A	A	151784588	G	A	151784588	2	1	165	1	0	0	0	0	0	0	0	1	10546	1103	39	1		1	NMUR2	5	151784588	Silent	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	4744069	151784588	29130672	18	41726											
SLC17A1	6568	genome.wustl.edu	37	chr6	25813138	25813138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttatgtgaccagaaaaacGtaaaactaccagtggaaata	18	9	8	6	1	0	2	0	1	0	1	0	3	0	3	2	1	3	2	2	1	8	4	rs144074233		TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr6:25813138G>A	ENST00000244527.4	-	8	933	c.818C>T	c.(817-819)aCg>aTg	p.T273M	SLC17A1_ENST00000476801.1_Missense_Mutation_p.T273M|SLC17A1_ENST00000468082.1_Intron|SLC17A1_ENST00000427328.1_Intron	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	273					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						CCAGAAAAACGTAAAACTACC	0.363																																																	0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	73	73	73		818	2.8	0	6	dbSNP_134	73	0,8600		0,0,4300	no	missense	SLC17A1	NM_005074.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	273/468	25813138	1,13005	2203	4300	6503	SO:0001583	missense	0				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.818C>T	6.37:g.25813138G>A	ENSP00000244527:p.Thr273Met		A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt	p.T273M	ENST00000244527.4	37	c.818	CCDS4565.1	6	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056730	0.36277	2.27E-4	0.0	ENSG00000124568	ENST00000244527;ENST00000476801	T;T	0.58797	0.31;0.31	3.67	2.79	0.32731	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.532611	0.15880	N	0.240089	T	0.47154	0.1430	L	0.39245	1.2	0.09310	N	0.999999	D	0.69078	0.997	P	0.59595	0.86	T	0.27226	-1.0080	10	0.59425	D	0.04	.	9.2344	0.37457	0.0:0.2208:0.7792:0.0	.	273	Q14916	NPT1_HUMAN	M	273	ENSP00000244527:T273M;ENSP00000420614:T273M	ENSP00000244527:T273M	T	-	2	0	SLC17A1	25921117	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.333000	0.19768	1.109000	0.41680	0.655000	0.94253	ACG	SLC17A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt	ENSG00000124568		0.363	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A1	HGNC	protein_coding	OTTHUMT00000043647.2	-	0	85	0	G			25813138	-1	tier1	rs144074233	no_errors	ENST00000244527	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.004	A	A	25813138	G	A	25813138	3	1	165	1	0	0	0	0	1	0	0	0	14461	1145	40	1	605	1	SLC17A1	6	25813138	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09		25813138	145301929	19	41727											
MYO6	4646	genome.wustl.edu	37	chr6	76545674	76545674	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatgacagaattgttgaagGtattgctaatttttcagttg	11	17	10	3	0	1	4	1	3	0	1	1	4	1	4	0	1	1	4	0	1	4	8			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr6:76545674G>T	ENST00000369977.3	+	7	692		c.e7+1		MYO6_ENST00000369981.3_Splice_Site|MYO6_ENST00000369985.4_Splice_Site|MYO6_ENST00000369975.1_Splice_Site	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI						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)		ATTGTTGAAGGTATTGCTAAT	0.328																																																	0													125	123	124					6																	76545674		2203	4300	6503	SO:0001630	splice_region_variant	0			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.553+1G>T	6.37:g.76545674G>T			A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Splice_Site	SNP	-	e6+1	ENST00000369977.3	37	c.553+1	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985132	0.74474	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8341	0.85952	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO6	76602394	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.269000	0.95684	2.029000	0.59856	0.460000	0.39030	.	MYO6	-	-	ENSG00000196586		0.328	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2		0	62	0	G	NM_004999	Intron	76545674	1			no_errors	ENST00000369981	ensembl	human	known	74_37	splice_site	6.12	46	3	SNP	1.000	T	T	76545674	G	T	76545674	5	4	165	1	0	0	0	0	0	0	1	0	10119	1275	44	3	576	3	MYO6	6	76545674	Splice_Site	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	50732536	76545674	94569393	20	41728											
HIVEP2	3097	genome.wustl.edu	37	chr6	143095479	143095479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaataagtcctcagaggcaaCggatggcaaagggccaggga	15	4	14	8	1	1	1	1	0	0	1	2	3	2	3	2	5	1	2	2	5	4	1	rs374725107		TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr6:143095479C>T	ENST00000367604.1	-	4	1036	c.397G>A	c.(397-399)Gtt>Att	p.V133I	HIVEP2_ENST00000367603.2_Missense_Mutation_p.V133I|HIVEP2_ENST00000012134.2_Missense_Mutation_p.V133I			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	133					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.V79I(1)		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)		TCAGAGGCAACGGATGGCAAA	0.502													C|||	1	0.000199681	0	0.0014	5008	,	,		22060	0		0	False		,,,				2504	0				Esophageal Squamous(107;843 1510 13293 16805 42198)												1	Substitution - Missense(1)	central_nervous_system(1)						C	ILE/VAL	1,4027		0,1,2013	122	129	126		397	3.6	0.7	6		126	0,8334		0,0,4167	no	missense	HIVEP2	NM_006734.3	29	0,1,6180	TT,TC,CC		0.0,0.0248,0.0081	benign	133/2447	143095479	1,12361	2014	4167	6181	SO:0001583	missense	0			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.397G>A	6.37:g.143095479C>T	ENSP00000356576:p.Val133Ile		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V133I	ENST00000367604.1	37	c.397	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	4.443	0.081982	0.08533	2.48E-4	0.0	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02369	4.32;4.32;4.32	5.69	3.59	0.41128	.	0.165679	0.40818	N	0.001011	T	0.00906	0.0030	L	0.31294	0.92	0.27778	N	0.94326	B	0.23990	0.095	B	0.15052	0.012	T	0.46652	-0.9176	10	0.19590	T	0.45	-15.8629	13.4532	0.61182	0.0:0.851:0.0:0.149	.	133	P31629	ZEP2_HUMAN	I	133	ENSP00000356576:V133I;ENSP00000356575:V133I;ENSP00000012134:V133I	ENSP00000012134:V133I	V	-	1	0	HIVEP2	143137172	0.997000	0.39634	0.668000	0.29813	0.924000	0.55760	2.584000	0.46102	1.400000	0.46741	0.655000	0.94253	GTT	HIVEP2	-	NULL	ENSG00000010818		0.502	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1		0	39	0	C			143095479	-1			no_errors	ENST00000012134	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.726	T	T	143095479	C	T	143095479	3	4	165	1	0	0	0	0	1	0	0	0	7214	536	19	1	6967	1	HIVEP2	6	143095479	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	66549805	143095479	28019588	21	41729											
BMPER	168667	genome.wustl.edu	37	chr7	34094885	34094885	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcccccagaagacatcaaAgtatgcaaatttggcaacaa	16	7	8	10	0	1	2	1	0	0	2	1	2	1	2	2	1	3	3	2	1	6	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr7:34094885A>C	ENST00000297161.2	+	10	1271	c.897A>C	c.(895-897)aaA>aaC	p.K299N	BMPER_ENST00000426693.1_Missense_Mutation_p.K299N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	299	VWFC 5. {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						AAGACATCAAAGTATGCAAAT	0.488																																																	0													119	113	115					7																	34094885		2203	4300	6503	SO:0001583	missense	0				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.897A>C	7.37:g.34094885A>C	ENSP00000297161:p.Lys299Asn		A8K1P8|Q8TF36	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.K299N	ENST00000297161.2	37	c.897	CCDS5442.1	7	.	.	.	.	.	.	.	.	.	.	A	13.03	2.116159	0.37339	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.65732	-0.17;-0.17	6.06	0.0888	0.14456	von Willebrand factor, type C (1);	0.462555	0.25050	N	0.033530	T	0.43831	0.1265	L	0.39326	1.205	0.35812	D	0.82392	B	0.15141	0.012	B	0.09377	0.004	T	0.23691	-1.0181	10	0.25751	T	0.34	.	4.8436	0.13503	0.6192:0.2064:0.0627:0.1118	.	299	Q8N8U9	BMPER_HUMAN	N	299	ENSP00000297161:K299N;ENSP00000393950:K299N	ENSP00000297161:K299N	K	+	3	2	BMPER	34061410	1.000000	0.71417	0.290000	0.24890	0.930000	0.56654	1.295000	0.33377	0.145000	0.18977	0.523000	0.50628	AAA	BMPER	-	pfscan_VWF_C	ENSG00000164619		0.488	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	-	0	53	0	A	NM_133468		34094885	1	tier1	-	no_errors	ENST00000297161	ensembl	human	known	74_37	missense	14.81	46	8	SNP	0.407	C	C	34094885	A	C	34094885	3	2	165	1	0	0	0	0	1	0	0	0	1470	69	3	4	931	4	BMPER	7	34094885	Missense_Mutation	SNP	A	TCGA-VR-A8ET-01A-11D-A403-09		34094885	125043778	22	41730											
TNPO3	23534	genome.wustl.edu	37	chr7	128607386	128607386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tttgtgtgtcactgtgacggCtcccacggttgtttcctttg	3	17	11	10	2	1	1	1	1	0	0	3	1	3	1	2	2	0	3	2	2	0	4			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr7:128607386C>T	ENST00000265388.5	-	21	2802	c.2659G>A	c.(2659-2661)Gcc>Acc	p.A887T	TNPO3_ENST00000471166.1_Missense_Mutation_p.A921T|TNPO3_ENST00000393245.1_Missense_Mutation_p.A921T|TNPO3_ENST00000471234.1_Missense_Mutation_p.A823T|TNPO3_ENST00000482320.1_Missense_Mutation_p.A821T			Q9Y5L0	TNPO3_HUMAN	transportin 3	887					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						ACTGTGACGGCTCCCACGGTT	0.433																																					Pancreas(147;583 2585 39696 52331)												0													169	145	153					7																	128607386		2203	4300	6503	SO:0001583	missense	0			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.2659G>A	7.37:g.128607386C>T	ENSP00000265388:p.Ala887Thr		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.A921T	ENST00000265388.5	37	c.2761	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219468	0.79464	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	.	.	.	5.81	5.81	0.92471	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	L	0.29908	0.895	0.80722	D	1	B;B;P;B	0.34864	0.296;0.342;0.473;0.342	B;B;B;B	0.31686	0.027;0.063;0.134;0.063	T	0.35375	-0.9791	9	0.09843	T	0.71	-13.8224	17.5723	0.87937	0.0:1.0:0.0:0.0	.	823;921;887;887	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	T	921;887;821;823;921	.	ENSP00000265388:A887T	A	-	1	0	TNPO3	128394622	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.531000	0.81973	2.736000	0.93811	0.655000	0.94253	GCC	TNPO3	-	NULL	ENSG00000064419		0.433	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	-	0	65	0	C	NM_012470		128607386	-1	tier1	-	no_errors	ENST00000393245	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	128607386	C	T	128607386	3	4	165	1	0	0	0	0	1	0	0	0	16384	797	28	3	120	3	TNPO3	7	128607386	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	94512501	128607386	30531277	23	41731											
CNPY1	285888	genome.wustl.edu	37	chr7	155299757	155299757	+	Frame_Shift_Del	DEL	C	C	-																															gtcagctagatagtgtgtctCctgggcgataagtgaggata																										TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr7:155299757delC	ENST00000321736.5	-	3	361	c.199delG	c.(199-201)gagfs	p.E67fs	CNPY1_ENST00000406197.1_Frame_Shift_Del_p.E67fs	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	67										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TAGTGTGTCTCCTGGGCGATA	0.438																																																	0													162	160	161					7																	155299757		2043	4186	6229	SO:0001589	frameshift_variant	0				CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"canopy 1 homolog (zebrafish)"			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.199delG	7.37:g.155299757delC	ENSP00000317439:p.Glu67fs		A6NGX3	Frame_Shift_Del	DEL	pfam_DUF3456	p.E67fs	ENST00000321736.5	37	c.199	CCDS43684.1	7																																																																																			CNPY1	-	pfam_DUF3456	ENSG00000146910		0.438	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CNPY1	HGNC	protein_coding	OTTHUMT00000322335.1		0	60	0	C	XM_001129537		155299757	-1	tier1		no_errors	ENST00000321736	ensembl	human	putative	74_37	frame_shift_del	14.29	12	2	DEL	1.000	-	-	155299757	C	-	155299757	7	5	165	1	0	1	0	1	0	0	0	0	3634	864	30	0	87	0	CNPY1	7	155299757	Frame_Shift_Del	DEL	C	TCGA-VR-A8ET-01A-11D-A403-09	26692371	155299757	3838906	24	41732											
FBXO16	157574	genome.wustl.edu	37	chr8	28309933	28309933	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggggactgtttttcctCtggagaattgcttgtaacta	10	15	10	6	0	1	1	0	0	1	1	2	3	2	2	1	3	2	3	1	3	5	7			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr8:28309933C>A	ENST00000380254.2	-	6	716	c.568G>T	c.(568-570)Gag>Tag	p.E190*	FBXO16_ENST00000518734.1_Nonsense_Mutation_p.E178*|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000517436.1_Intron|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000346498.2_Nonsense_Mutation_p.E178*	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	190										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)		TGTTTTTCCTCTGGAGAATTG	0.408																																																	0													84	88	86					8																	28309933		2203	4300	6503	SO:0001587	stop_gained	0			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.568G>T	8.37:g.28309933C>A	ENSP00000369604:p.Glu190*		Q3T1B2|Q3T1B3|Q3T1B4	Nonsense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.E190*	ENST00000380254.2	37	c.568	CCDS6068.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.98|13.98	2.399467|2.399467	0.42512|0.42512	.|.	.|.	ENSG00000214050|ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734;ENST00000517673|ENST00000518248	.|.	.|.	.|.	5.27|5.27	4.39|4.39	0.52855|0.52855	.|.	0.651982|.	0.14054|.	U|.	0.344539|.	.|T	.|0.63733	.|0.2536	.|.	.|.	.|.	0.41085|0.41085	D|D	0.985556|0.985556	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62581	.|-0.6824	.|4	0.38643|.	T|.	0.18|.	-26.2905|-26.2905	12.5055|12.5055	0.55979|0.55979	0.0:0.9182:0.0:0.0818|0.0:0.9182:0.0:0.0818	.|.	.|.	.|.	.|.	X|H	190;178;178;135|34	.|.	ENSP00000341416:E178X|.	E|Q	-|-	1|3	0|2	FBXO16|FBXO16	28365852|28365852	0.769000|0.769000	0.28531|0.28531	0.040000|0.040000	0.18447|0.18447	0.172000|0.172000	0.22775|0.22775	2.376000|2.376000	0.44292|0.44292	1.209000|1.209000	0.43321|0.43321	-0.218000|-0.218000	0.12543|0.12543	GAG|CAG	FBXO16	-	superfamily_F-box_dom	ENSG00000214050		0.408	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO16	HGNC	protein_coding	OTTHUMT00000219988.2		0	90	0	C	NM_172366		28309933	-1			no_errors	ENST00000521548	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	0.106	A	A	28309933	C	A	28309933	4	1	165	1	0	0	0	0	0	1	0	0	5751	922	32	3	326	3	FBXO16	8	28309933	Nonsense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09		28309933	118054089	25	41733											
ST18	9705	genome.wustl.edu	37	chr8	53092686	53092686	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctccttgctacctgcGgtagagtgaccatgtgtttc	5	14	9	13	1	1	2	0	1	1	1	4	2	2	2	4	1	3	3	4	1	2	4	rs137908806		TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr8:53092686G>T	ENST00000276480.7	-	9	956	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	91					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)				TGCTACCTGCGGTAGAGTGAC	0.517																																																	0													258	210	226					8																	53092686		2203	4300	6503	SO:0001819	synonymous_variant	0			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.273C>A	8.37:g.53092686G>T			Q17RY1	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.T91	ENST00000276480.7	37	c.273	CCDS6149.1	8																																																																																			ST18	-	NULL	ENSG00000147488		0.517	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1		0	55	0	G			53092686	-1			no_errors	ENST00000276480	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.002	T	T	53092686	G	T	53092686	2	4	165	1	0	0	0	0	0	0	0	1	15259	1103	39	2		2	ST18	8	53092686	Silent	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	24782753	53092686	93271336	26	41734											
DEPDC6	64798	genome.wustl.edu	37	chr8	121013914	121013914	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cttctgcctgaggaagcagaGccatgacaatcggaaatcta	13	8	10	10	1	2	3	0	2	2	1	3	5	2	5	2	2	3	1	2	2	4	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr8:121013914G>T	ENST00000286234.5	+	5	885	c.755G>T	c.(754-756)aGc>aTc	p.S252I	DEPTOR_ENST00000523492.1_Missense_Mutation_p.S151I|DEPTOR_ENST00000518057.1_3'UTR	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	252	Ser-rich.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						AGGAAGCAGAGCCATGACAAT	0.498																																																	0													99	92	95					8																	121013914		2203	4300	6503	SO:0001583	missense	0				CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"DEP domain containing 6"	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.755G>T	8.37:g.121013914G>T	ENSP00000286234:p.Ser252Ile		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ	p.S252I	ENST00000286234.5	37	c.755	CCDS6331.1	8	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367367	0.41902	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	T;T	0.15139	2.45;2.45	6.17	3.12	0.35913	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.357349	0.38326	N	0.001723	T	0.13543	0.0328	L	0.29908	0.895	0.32128	N	0.587122	P;P	0.48998	0.918;0.8	P;B	0.47645	0.553;0.365	T	0.10177	-1.0641	10	0.19147	T	0.46	-24.8053	7.1298	0.25493	0.3774:0.0:0.6226:0.0	.	151;252	E7EV87;Q8TB45	.;DPTOR_HUMAN	I	151;252	ENSP00000430457:S151I;ENSP00000286234:S252I	ENSP00000286234:S252I	S	+	2	0	DEPTOR	121083095	1.000000	0.71417	0.998000	0.56505	0.197000	0.23852	3.236000	0.51336	0.962000	0.38057	-0.742000	0.03525	AGC	DEPTOR	-	NULL	ENSG00000155792		0.498	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPTOR	HGNC	protein_coding	OTTHUMT00000381601.1	-	0	81	0	G	NM_022783		121013914	1	tier1	-	no_errors	ENST00000286234	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.993	T	T	121013914	G	T	121013914	3	4	165	1	0	0	0	0	1	0	0	0	4457	971	34	3	773	3	DEPDC6	8	121013914	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	67921228	121013914	25350108	27	41735											
NTRK2	4915	genome.wustl.edu	37	chr9	87317098	87317098	+	Frame_Shift_Del	DEL	A	A	-																															atcgcaaaccagaaaaggttAgaaatcatcaacgaagatga																										TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr9:87317098delA	ENST00000323115.4	+	2	590	c.237delA	c.(235-237)ttafs	p.L79fs	NTRK2_ENST00000277120.3_Frame_Shift_Del_p.L79fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.L79fs|NTRK2_ENST00000304053.6_Frame_Shift_Del_p.L79fs|NTRK2_ENST00000376213.1_Frame_Shift_Del_p.L79fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.L79fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.L79fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.L79fs|NTRK2_ENST00000395866.2_5'UTR			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	79					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)	AGAAAAGGTTAGAAATCATCA	0.443										TSP Lung(25;0.17)																																							0													101	89	93					9																	87317098		2203	4300	6503	SO:0001589	frameshift_variant	0			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.237delA	9.37:g.87317098delA	ENSP00000314586:p.Leu79fs		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.E80fs	ENST00000323115.4	37	c.237	CCDS35050.1	9																																																																																			NTRK2	-	NULL	ENSG00000148053		0.443	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1		0	60	0	A			87317098	1	tier1		no_errors	ENST00000277120	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	1.000	-	-	87317098	A	-	87317098	7	5	165	1	0	1	0	1	0	0	0	0	10746	417	15	0	243	0	NTRK2	9	87317098	Frame_Shift_Del	DEL	A	TCGA-VR-A8ET-01A-11D-A403-09		87317098	53896333	28	41736											
RGS3	5998	genome.wustl.edu	37	chr9	116353678	116353678	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagaaagagcaaaaacctGtacgttgggaagatccctgg	16	6	12	7	1	0	3	0	0	0	3	1	5	1	4	2	2	3	3	2	2	6	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr9:116353678G>T	ENST00000374140.2	+	22	3289		c.e22+1		RGS3_ENST00000394646.3_Splice_Site|RGS3_ENST00000343817.5_Splice_Site|RGS3_ENST00000374134.3_Splice_Site|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000350696.5_Splice_Site|RGS3_ENST00000342620.5_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000462143.1_Splice_Site	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCAAAAACCTGTACGTTGGGA	0.592																																																	0													94	86	88					9																	116353678		2203	4300	6503	SO:0001630	splice_region_variant	0			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.3080+1G>T	9.37:g.116353678G>T			A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Splice_Site	SNP	-	e21+1	ENST00000374140.2	37	c.3080+1	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016327	0.75161	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7528	0.62917	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGS3	115393499	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.470000	0.73558	2.303000	0.77524	0.555000	0.69702	.	RGS3	-	-	ENSG00000138835		0.592	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3		0	46	0	G	NM_017790	Intron	116353678	1			no_errors	ENST00000350696	ensembl	human	known	74_37	splice_site	5.56	34	2	SNP	1.000	T	T	116353678	G	T	116353678	5	4	165	1	0	0	0	0	0	0	1	0	13351	1391	48	3	3416	3	RGS3	9	116353678	Splice_Site	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	29036580	116353678	24859753	29	41737											
LCN12	286256	genome.wustl.edu	37	chr9	139846877	139846877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcccgcccccgatgcagaGcttccaaggaaaccaggtac	11	5	9	16	2	0	1	0	0	0	1	2	3	2	2	5	2	4	3	5	2	3	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr9:139846877G>T	ENST00000371633.3	+	1	98	c.98G>T	c.(97-99)aGc>aTc	p.S33I		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	33					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CCGATGCAGAGCTTCCAAGGA	0.642																																																	0													18	23	21					9																	139846877		1910	4106	6016	SO:0001583	missense	0			BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"Lipocalins"	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.98G>T	9.37:g.139846877G>T	ENSP00000360696:p.Ser33Ile		A2AMJ7	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_N_gelatinase	p.S33I	ENST00000371633.3	37	c.98	CCDS7018.2	9	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858934	0.71834	.	.	ENSG00000184925	ENST00000371633	T	0.46451	0.87	4.01	2.12	0.27331	Calycin-like (1);Calycin (1);	0.197348	0.25205	N	0.032349	T	0.51381	0.1671	L	0.50333	1.59	0.09310	N	0.999999	D;D	0.65815	0.995;0.995	P;D	0.65443	0.906;0.935	T	0.36529	-0.9744	10	0.87932	D	0	-11.3641	7.9665	0.30102	0.2951:0.0:0.7049:0.0	.	33;33	Q8IW14;Q6JVE5	.;LCN12_HUMAN	I	33	ENSP00000360696:S33I	ENSP00000360696:S33I	S	+	2	0	LCN12	138966698	0.000000	0.05858	0.013000	0.15412	0.874000	0.50279	-0.815000	0.04481	0.434000	0.26340	0.561000	0.74099	AGC	LCN12	-	superfamily_Calycin-like,prints_PstgldnD_synth	ENSG00000184925		0.642	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN12	HGNC	protein_coding	OTTHUMT00000257990.1	-	0	148	0	G	NM_178536		139846877	1	tier1	-	no_errors	ENST00000371633	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.205	T	T	139846877	G	T	139846877	3	4	165	1	0	0	0	0	1	0	0	0	8710	971	34	3	100	3	LCN12	9	139846877	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	23493199	139846877	1366554	30	41738											
A1CF	29974	genome.wustl.edu	37	chr10	52595965	52595965	+	Frame_Shift_Del	DEL	T	T	-																															cgacaacaccttcagtaaccTttttcatctccgataagatt																										TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr10:52595965delT	ENST00000373993.1	-	4	517	c.473delA	c.(472-474)aagfs	p.K158fs	A1CF_ENST00000373997.3_Frame_Shift_Del_p.K158fs|A1CF_ENST00000395489.2_Frame_Shift_Del_p.K151fs|A1CF_ENST00000395495.1_Frame_Shift_Del_p.K158fs|A1CF_ENST00000282641.2_Frame_Shift_Del_p.K158fs|A1CF_ENST00000374001.2_Frame_Shift_Del_p.K158fs|A1CF_ENST00000373995.3_Frame_Shift_Del_p.K166fs			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	158	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCAGTAACCTTTTTCATCTC	0.468																																																	0													147	142	144					10																	52595965		2203	4300	6503	SO:0001589	frameshift_variant	0			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.473delA	10.37:g.52595965delT	ENSP00000363105:p.Lys158fs		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.K158fs	ENST00000373993.1	37	c.473	CCDS7242.1	10																																																																																			A1CF	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000148584		0.468	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	A1CF	HGNC	protein_coding	OTTHUMT00000048086.2		0	53	0	T	NM_014576		52595965	-1	tier1		no_errors	ENST00000282641	ensembl	human	known	74_37	frame_shift_del	8.11	34	3	DEL	1.000	-	-	52595965	T	-	52595965	7	5	165	1	0	1	0	1	0	0	0	0	2	1609	56	0	1343	0	A1CF	10	52595965	Frame_Shift_Del	DEL	T	TCGA-VR-A8ET-01A-11D-A403-09		52595965	82938782	31	41739											
ZWINT	11130	genome.wustl.edu	37	chr10	58119778	58119778	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	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	tacaatcccctgcctactcaCggctcgtgtcttcagaagcc	8	10	7	16	2	3	1	2	0	1	1	5	1	4	1	4	1	4	1	4	1	4	3			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr10:58119778C>T	ENST00000373944.3	-	3	295		c.e3+1		ZWINT_ENST00000318387.2_5'Flank|ZWINT_ENST00000395405.1_Splice_Site|ZWINT_ENST00000460654.1_5'Flank|ZWINT_ENST00000361148.6_Splice_Site			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein						establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)	p.?(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						TGCCTACTCACGGCTCGTGTC	0.562																																																	1	Unknown(1)	lung(1)											64	68	67					10																	58119778		2203	4300	6503	SO:0001630	splice_region_variant	0			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.256+1G>A	10.37:g.58119778C>T			A6NNV6|Q0D2I3|Q9BWD0	Splice_Site	SNP	-	e3+1	ENST00000373944.3	37	c.256+1	CCDS7249.1	10	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618539	0.28801	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000361148	.	.	.	4.24	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8973	0.35472	0.0:0.8903:0.0:0.1097	.	.	.	.	.	-1	.	.	.	-	.	.	ZWINT	57789784	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	3.626000	0.54245	1.092000	0.41356	0.644000	0.83932	.	ZWINT	-	-	ENSG00000122952		0.562	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZWINT	HGNC	protein_coding	OTTHUMT00000048132.1		0	20	0	C		Intron	58119778	-1			no_errors	ENST00000373944	ensembl	human	known	74_37	splice_site	12.50	14	2	SNP	1.000	T	T	58119778	C	T	58119778	5	4	165	1	0	0	0	0	0	0	1	0	18297	550	19	1	600	1	ZWINT	10	58119778	Splice_Site	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	5523813	58119778	77414969	32	41740											
C11orf40	143501	genome.wustl.edu	37	chr11	4593445	4593445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagtcacatagaagctggtGtttcattgctcccacaggta	11	12	9	9	0	2	1	2	0	0	1	3	1	3	1	1	2	2	4	1	2	4	5			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr11:4593445G>T	ENST00000307616.1	-	3	387	c.388C>A	c.(388-390)Cac>Aac	p.H130N		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	130										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)		AGAAGCTGGTGTTTCATTGCT	0.433																																																	0													144	129	134					11																	4593445		2201	4298	6499	SO:0001583	missense	0				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.388C>A	11.37:g.4593445G>T	ENSP00000302918:p.His130Asn			Missense_Mutation	SNP	NULL	p.H130N	ENST00000307616.1	37	c.388	CCDS31354.1	11	.	.	.	.	.	.	.	.	.	.	G	0.820	-0.748898	0.03065	.	.	ENSG00000171987	ENST00000307616	T	0.53206	0.63	1.09	-1.3	0.09259	.	.	.	.	.	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	P	0.34977	0.478	B	0.31812	0.136	T	0.13845	-1.0494	9	0.87932	D	0	.	2.7417	0.05255	0.2397:0.357:0.4033:0.0	.	130	Q8WZ69	CK040_HUMAN	N	130	ENSP00000302918:H130N	ENSP00000302918:H130N	H	-	1	0	C11orf40	4550021	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	-0.758000	0.04766	-0.438000	0.07232	-0.340000	0.08031	CAC	C11orf40	-	NULL	ENSG00000171987		0.433	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf40	HGNC	protein_coding	OTTHUMT00000383529.1	-	0	55	0	G	NM_144663		4593445	-1	tier1	-	no_errors	ENST00000307616	ensembl	human	known	74_37	missense	7.14	51	4	SNP	0.008	T	T	4593445	G	T	4593445	3	4	165	1	0	0	0	0	1	0	0	0	1644	1377	48	3	272	3	C11orf40	11	4593445	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09		4593445	130413071	33	41741											
OR51A7	119687	genome.wustl.edu	37	chr11	4929304	4929304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttggcagagaggcttaaGgccctaaatacctgtgtctc	9	12	10	10	0	2	1	0	0	2	1	3	2	2	1	2	3	1	2	2	3	4	4			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr11:4929304G>T	ENST00000359350.4	+	1	705	c.705G>T	c.(703-705)aaG>aaT	p.K235N	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	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K235N(1)		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)		AGAGGCTTAAGGCCCTAAATA	0.478																																																	1	Substitution - Missense(1)	lung(1)											233	205	214					11																	4929304		2201	4298	6499	SO:0001583	missense	0			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.705G>T	11.37:g.4929304G>T	ENSP00000352305:p.Lys235Asn		Q6IFH8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.K235N	ENST00000359350.4	37	c.705	CCDS31364.1	11	.	.	.	.	.	.	.	.	.	.	G	4.399	0.073673	0.08485	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.51071	0.72	5.02	-0.522	0.11928	GPCR, rhodopsin-like superfamily (1);	0.266897	0.26369	N	0.024768	T	0.64260	0.2582	H	0.97051	3.93	0.22961	N	0.998503	B	0.25105	0.118	B	0.39771	0.309	T	0.64491	-0.6395	10	0.87932	D	0	.	7.0374	0.25000	0.4708:0.1167:0.4124:0.0	.	235	Q8NH64	O51A7_HUMAN	N	235;235;224	ENSP00000352305:K235N	ENSP00000352305:K235N	K	+	3	2	OR51A7	4885880	0.003000	0.15002	0.007000	0.13788	0.014000	0.08584	-0.034000	0.12225	-0.546000	0.06216	-1.945000	0.00491	AAG	OR51A7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176895		0.478	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1		0	34	0	G	NM_001004749		4929304	1			no_errors	ENST00000359350	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.771	T	T	4929304	G	T	4929304	3	4	165	1	0	0	0	0	1	0	0	0	11127	991	35	3	707	3	OR51A7	11	4929304	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	335859	4929304	130077212	34	41742											
OVCH2	341277	genome.wustl.edu	37	chr11	7718062	7718062	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtaactgtggtgacaaGactcaacatctaggtgggaa	14	8	12	7	0	2	2	1	1	1	1	2	3	2	3	0	4	2	1	0	4	5	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr11:7718062G>T	ENST00000533663.1	-	0	0				OVCH2_ENST00000454689.1_RNA|OVCH2_ENST00000534193.2_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GTGGTGACAAGACTCAACATC	0.478																																																	0													109	105	107					11																	7718062		1959	4150	6109			0			BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"ovochymase 2"			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7718062G>T				Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.S364Y	ENST00000533663.1	37	c.1091		11	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108301	0.37242	.	.	ENSG00000183378	ENST00000454689	T	0.19394	2.15	5.69	2.46	0.29980	CUB (5);	0.667620	0.13176	N	0.407881	T	0.27419	0.0673	M	0.68728	2.09	0.20403	N	0.999906	P	0.46327	0.876	P	0.47864	0.559	T	0.13150	-1.0520	10	0.72032	D	0.01	-3.0714	5.4107	0.16346	0.3852:0.0:0.6148:0.0	.	364	Q7RTZ1	OVCH2_HUMAN	Y	364	ENSP00000407158:S364Y	ENSP00000407158:S364Y	S	-	2	0	OVCH2	7674638	0.979000	0.34478	0.040000	0.18447	0.277000	0.26821	1.440000	0.35024	0.765000	0.33221	0.655000	0.94253	TCT	OVCH2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183378		0.478	OVCH2-002	KNOWN	basic	processed_transcript	OVCH2	HGNC	polymorphic_pseudogene	OTTHUMT00000383928.1		0	51	0	G	NM_198185		7718062	-1			no_errors	ENST00000454689	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.830	T	T	7718062	G	T	7718062	1	4	165	0	1	0	0	0	0	0	0	0	11363	942	33	3		3	OVCH2	11	7718062	RNA	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	2788758	7718062	127288454	35	41743											
MYO7A	4647	genome.wustl.edu	37	chr11	76917248	76917248	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccctgatgacactgacgagGtgagggtcaccggcttctag	8	9	13	11	2	2	4	1	4	1	0	3	5	3	4	2	3	0	1	2	3	1	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr11:76917248G>A	ENST00000409709.3	+	41	6014		c.e41+1		MYO7A_ENST00000409619.2_Splice_Site|MYO7A_ENST00000605744.1_Splice_Site|MYO7A_ENST00000458637.2_Splice_Site	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						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						CACTGACGAGGTGAGGGTCAC	0.602																																																	0													66	73	71					11																	76917248		1970	4143	6113	SO:0001630	splice_region_variant	0			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.5742+1G>A	11.37:g.76917248G>A			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Splice_Site	SNP	-	e40+1	ENST00000409709.3	37	c.5742+1	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	g	12.70	2.016961	0.35606	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3103	0.87207	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO7A	76594896	1.000000	0.71417	0.995000	0.50966	0.124000	0.20399	9.374000	0.97172	2.075000	0.62263	0.556000	0.70494	.	MYO7A	-	-	ENSG00000137474		0.602	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	-	0	64	0	G	NM_000260	Intron	76917248	1	tier1	-	no_errors	ENST00000409709	ensembl	human	known	74_37	splice_site	13.33	26	4	SNP	1.000	A	A	76917248	G	A	76917248	5	1	165	1	0	0	0	0	0	0	1	0	10120	1275	44	3	5935	3	MYO7A	11	76917248	Splice_Site	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	69199186	76917248	58089268	36	41744											
ODZ4	26011	genome.wustl.edu	37	chr11	78381103	78381103	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gtggggtctcgttgatcacaGcctgcatgctggtcacccgg	5	10	14	12	2	3	1	2	1	1	0	4	1	3	1	2	4	3	3	2	4	0	1			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr11:78381103G>A	ENST00000278550.7	-	32	6749	c.6287C>T	c.(6286-6288)gCt>gTt	p.A2096V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2096					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)										GTTGATCACAGCCTGCATGCT	0.498																																																	0													67	71	70					11																	78381103		2098	4217	6315	SO:0001583	missense	0			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.6287C>T	11.37:g.78381103G>A	ENSP00000278550:p.Ala2096Val		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A2096V	ENST00000278550.7	37	c.6287	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892578	0.52121	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89270	-2.49;1.02	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.91637	0.7357	L	0.41824	1.3	0.58432	D	0.999999	D	0.69078	0.997	D	0.75020	0.985	D	0.90606	0.4548	9	.	.	.	.	18.1852	0.89790	0.0:0.0:1.0:0.0	.	2096	Q6N022	TEN4_HUMAN	V	2096;560	ENSP00000278550:A2096V;ENSP00000431711:A560V	.	A	-	2	0	ODZ4	78058751	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	6.536000	0.73842	2.597000	0.87782	0.655000	0.94253	GCT	TENM4	-	NULL	ENSG00000149256		0.498	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2		0	28	0	G			78381103	-1			no_errors	ENST00000278550	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.999	A	A	78381103	G	A	78381103	3	1	165	1	0	0	0	0	1	0	0	0	10876	971	34	3	2034	3	ODZ4	11	78381103	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	1463855	78381103	56625413	37	41745											
CCDC81	60494	genome.wustl.edu	37	chr11	86123434	86123434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttcattctagaaatcCttcctatttgacaaacggcc	10	15	4	12	1	3	2	1	1	2	1	6	2	5	2	3	1	1	0	3	1	4	6			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr11:86123434C>T	ENST00000445632.2	+	11	1496	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	CCDC81_ENST00000278487.3_Silent_p.S143S|CCDC81_ENST00000528728.1_Silent_p.S143S|CCDC81_ENST00000354755.1_Silent_p.S318S	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	408								p.S318S(1)		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)				TCTAGAAATCCTTCCTATTTG	0.358																																																	1	Substitution - coding silent(1)	large_intestine(1)											98	99	98					11																	86123434		2202	4299	6501	SO:0001819	synonymous_variant	0			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.1224C>T	11.37:g.86123434C>T			A0AVL7|Q53FW3|Q9H5E5	Silent	SNP	superfamily_IHF-like_DNA-bd_dom	p.S408	ENST00000445632.2	37	c.1224	CCDS53691.1	11																																																																																			CCDC81	-	NULL	ENSG00000149201		0.358	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1		0	40	0	C	NM_021827		86123434	1			no_errors	ENST00000445632	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.954	T	T	86123434	C	T	86123434	2	4	165	1	0	0	0	0	0	0	0	1	2862	668	24	3		3	CCDC81	11	86123434	Silent	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	7742331	86123434	48883082	38	41746											
FOXR1	283150	genome.wustl.edu	37	chr11	118850248	118850248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctccagagtcggaggcttCggcaagccagcagccaggcg	8	4	14	15	3	0	1	0	0	0	1	3	2	1	2	4	4	3	3	4	4	1	1			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr11:118850248C>T	ENST00000317011.3	+	4	706	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	161					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R161W(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TCGGAGGCTTCGGCAAGCCAG	0.607																																																	1	Substitution - Missense(1)	large_intestine(1)											42	48	46					11																	118850248		2200	4295	6495	SO:0001583	missense	0			AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"Forkhead boxes"	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.481C>T	11.37:g.118850248C>T	ENSP00000314806:p.Arg161Trp		B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R161W	ENST00000317011.3	37	c.481	CCDS31688.1	11	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396586	0.62177	.	.	ENSG00000176302	ENST00000317011	D	0.95377	-3.69	5.61	5.61	0.85477	.	0.915017	0.09436	N	0.802382	D	0.95778	0.8626	L	0.45698	1.435	0.26818	N	0.968843	D	0.76494	0.999	P	0.53689	0.732	D	0.90523	0.4490	10	0.48119	T	0.1	.	15.5123	0.75793	0.0:1.0:0.0:0.0	.	161	Q6PIV2	FOXR1_HUMAN	W	161	ENSP00000314806:R161W	ENSP00000314806:R161W	R	+	1	2	FOXR1	118355458	1.000000	0.71417	0.967000	0.41034	0.998000	0.95712	2.724000	0.47285	2.826000	0.97356	0.655000	0.94253	CGG	FOXR1	-	NULL	ENSG00000176302		0.607	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR1	HGNC	protein_coding	OTTHUMT00000389312.1		0	49	0	C	NM_181721		118850248	1			no_errors	ENST00000317011	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.778	T	T	118850248	C	T	118850248	3	4	165	1	0	0	0	0	1	0	0	0	6055	875	31	1	495	1	FOXR1	11	118850248	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	32726814	118850248	16156268	39	41747											
TAS2R19	259294	genome.wustl.edu	37	chr12	11175145	11175145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaacactaccagaattgatGaaatgatgagcagaaaacac	20	6	7	8	0	0	6	0	4	0	2	0	6	0	6	1	0	4	1	1	0	6	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr12:11175145G>A	ENST00000390673.2	-	1	74	c.26C>T	c.(25-27)tCa>tTa	p.S9L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	9					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S9L(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAGAATTGATGAAATGATGAG	0.373																																																	1	Substitution - Missense(1)	breast(1)											66	61	63					12																	11175145		2202	4299	6501	SO:0001583	missense	0			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.26C>T	12.37:g.11175145G>A	ENSP00000375091:p.Ser9Leu		Q3MIJ4|Q645X8	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S9L	ENST00000390673.2	37	c.26	CCDS8640.1	12	.	.	.	.	.	.	.	.	.	.	.	2.061	-0.415423	0.04766	.	.	ENSG00000212124	ENST00000390673	T	0.00637	6.05	2.45	-0.513	0.11962	.	1.638660	0.05009	U	0.470632	T	0.00328	0.0010	N	0.00864	-1.135	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41627	-0.9498	10	0.27785	T	0.31	.	4.2575	0.10724	0.6892:0.0:0.1422:0.1686	.	9	P59542	T2R19_HUMAN	L	9	ENSP00000375091:S9L	ENSP00000375091:S9L	S	-	2	0	TAS2R19	11066412	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.206000	0.09398	-0.173000	0.10761	-3.044000	0.00070	TCA	TAS2R19	-	pfam_TAS2_rcpt	ENSG00000212124		0.373	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R19	HGNC	protein_coding	OTTHUMT00000370080.1		0	28	0	G	NM_176888		11175145	-1			no_errors	ENST00000390673	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.000	A	A	11175145	G	A	11175145	3	1	165	1	0	0	0	0	1	0	0	0	15617	1294	45	3	876	3	TAS2R19	12	11175145	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09		11175145	122676750	40	41748											
C12orf11	55726	genome.wustl.edu	37	chr12	27059296	27059296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaacagagttcaaacgtcCagcaaattcctgatgttttc	13	13	6	9	1	1	2	1	1	0	1	4	2	3	2	2	0	3	3	2	0	3	5			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr12:27059296C>T	ENST00000261191.7	-	16	2556	c.2020G>A	c.(2020-2022)Gga>Aga	p.G674R	ASUN_ENST00000539625.1_Missense_Mutation_p.G573R	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	674					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTCAAACGTCCAGCAAATTCC	0.348																																																	0													120	126	124					12																	27059296		2203	4298	6501	SO:0001583	missense	0			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.2020G>A	12.37:g.27059296C>T	ENSP00000261191:p.Gly674Arg		B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	pfam_Cell_cycle_regulator_Mat89Bb	p.G674R	ENST00000261191.7	37	c.2020	CCDS8708.1	12	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494990	0.85069	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745	T;T;T	0.72835	-0.69;-0.69;-0.69	5.35	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84132	0.0412	10	0.66056	D	0.02	-21.6524	14.5551	0.68094	0.0:0.9291:0.0:0.0709	.	674;573	Q9NVM9;B4DNK1	M89BB_HUMAN;.	R	321;674;573;261	ENSP00000445645:G321R;ENSP00000261191:G674R;ENSP00000443724:G573R	ENSP00000261191:G674R	G	-	1	0	C12orf11	26950563	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	5.696000	0.68287	1.418000	0.47098	0.585000	0.79938	GGA	ASUN	-	pfam_Cell_cycle_regulator_Mat89Bb	ENSG00000064102		0.348	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASUN	HGNC	protein_coding	OTTHUMT00000402819.1	-	0	85	0	C	NM_018164		27059296	-1	tier1	-	no_errors	ENST00000261191	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	27059296	C	T	27059296	3	4	165	1	0	0	0	0	1	0	0	0	1680	603	21	3	108	3	C12orf11	12	27059296	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	15884151	27059296	106792599	41	41749											
AMHR2	269	genome.wustl.edu	37	chr12	53819645	53819645	+	Frame_Shift_Del	DEL	G	G	-																															ccgatttatcactgccagccGggggggtcctggccgcctgc																								rs374370282		TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr12:53819645delG	ENST00000257863.4	+	6	874	c.794delG	c.(793-795)cggfs	p.R265fs	AMHR2_ENST00000550311.1_Frame_Shift_Del_p.R265fs|AMHR2_ENST00000379791.3_Frame_Shift_Del_p.R265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	265	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)	ACTGCCAGCCGGGGGGGTCCT	0.577																																																	0									,,	2,4262		0,2,2130	44	45	45		,,	0.9	0.9	12		45	3,8251		0,3,4124	no	frameshift,frameshift,frameshift	AMHR2	NM_020547.2,NM_001164691.1,NM_001164690.1	,,	0,5,6254	A1A1,A1R,RR		0.0363,0.0469,0.0399	,,	,,	53819645	5,12513	2203	4300	6503	SO:0001589	frameshift_variant	0			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.794delG	12.37:g.53819645delG	ENSP00000257863:p.Arg265fs		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Frame_Shift_Del	DEL	pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G267fs	ENST00000257863.4	37	c.794	CCDS8858.1	12																																																																																			AMHR2	-	pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135409		0.577	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	HGNC	protein_coding	OTTHUMT00000407048.1		0	21	0	G	NM_020547		53819645	1	tier1		no_errors	ENST00000257863	ensembl	human	known	74_37	frame_shift_del	14.29	18	3	DEL	0.935	-	-	53819645	G	-	53819645	7	5	165	1	0	1	0	1	0	0	0	0	573	1116	39	0	816	0	AMHR2	12	53819645	Frame_Shift_Del	DEL	G	TCGA-VR-A8ET-01A-11D-A403-09	26760349	53819645	80032250	42	41750											
LRP1	4035	genome.wustl.edu	37	chr12	57579402	57579402	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cgggcctgcgcctgtgcccaCgggatgctggctgaagacgg	5	6	17	13	4	0	2	0	1	0	1	0	3	0	3	3	4	3	2	3	4	1	0			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr12:57579402C>T	ENST00000243077.3	+	41	7018	c.6552C>T	c.(6550-6552)caC>caT	p.H2184H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2184	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGTGCCCACGGGATGCTGG	0.672																																																	0													37	33	34					12																	57579402		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6552C>T	12.37:g.57579402C>T			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H2184	ENST00000243077.3	37	c.6552	CCDS8932.1	12																																																																																			LRP1	-	smart_EG-like_dom	ENSG00000123384		0.672	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2		0	27	0	C	NM_002332		57579402	1			no_errors	ENST00000243077	ensembl	human	known	74_37	silent	14.29	12	2	SNP	0.311	T	T	57579402	C	T	57579402	2	4	165	1	0	0	0	0	0	0	0	1	8986	535	19	1		1	LRP1	12	57579402	Silent	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	3759757	57579402	76272493	43	41751											
SLITRK1	114798	genome.wustl.edu	37	chr13	84453964	84453964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaagaagttcaccggcGtctcacacttgaggtcgctc	9	11	9	12	3	3	2	2	1	2	1	6	2	3	2	1	2	0	2	1	2	3	4			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr13:84453964G>A	ENST00000377084.2	-	1	2564	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	560	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.T560M(2)		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)		GTTCACCGGCGTCTCACACTT	0.537																																																	2	Substitution - Missense(2)	NS(1)|endometrium(1)											61	55	57					13																	84453964		2203	4300	6503	SO:0001583	missense	0			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.1679C>T	13.37:g.84453964G>A	ENSP00000366288:p.Thr560Met		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T560M	ENST00000377084.2	37	c.1679	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868672	0.32977	.	.	ENSG00000178235	ENST00000377084	T	0.53423	0.62	5.22	5.22	0.72569	Cysteine-rich flanking region, C-terminal (1);	0.112873	0.64402	D	0.000008	T	0.40956	0.1138	L	0.45352	1.415	0.44432	D	0.99735	B	0.21147	0.052	B	0.23018	0.043	T	0.34800	-0.9814	10	0.66056	D	0.02	-7.8324	11.2346	0.48933	0.0852:0.0:0.9148:0.0	.	560	Q96PX8	SLIK1_HUMAN	M	560	ENSP00000366288:T560M	ENSP00000366288:T560M	T	-	2	0	SLITRK1	83351965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.603000	0.88011	0.655000	0.94253	ACG	SLITRK1	-	smart_Cys-rich_flank_reg_C	ENSG00000178235		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	-	0	23	0	G	NM_052910		84453964	-1	tier1	-	no_errors	ENST00000377084	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	A	A	84453964	G	A	84453964	3	1	165	1	0	0	0	0	1	0	0	0	14787	1145	40	1	415	1	SLITRK1	13	84453964	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09		84453964	30715914	44	41752											
DCT	1638	genome.wustl.edu	37	chr13	95131226	95131226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcacctgtgcacttgCaggtccggtggaagaatttt	7	11	13	10	1	1	1	1	0	0	1	2	2	2	2	3	4	2	2	3	4	2	3			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr13:95131226C>A	ENST00000377028.5	-	1	697	c.284G>T	c.(283-285)tGc>tTc	p.C95F	DCT_ENST00000446125.1_Missense_Mutation_p.C95F	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	95					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)		TGTGCACTTGCAGGTCCGGTG	0.567																																																	0													82	71	75					13																	95131226		2203	4300	6503	SO:0001583	missense	0			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.284G>T	13.37:g.95131226C>A	ENSP00000366227:p.Cys95Phe		Q09GT4	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.C95F	ENST00000377028.5	37	c.284	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455773	0.84209	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.86097	-2.07;-2.07	5.32	5.32	0.75619	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.95037	0.8393	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.96338	0.9249	10	0.87932	D	0	-20.5188	19.0	0.92829	0.0:1.0:0.0:0.0	.	95;95	Q09GT4;P40126	.;TYRP2_HUMAN	F	95	ENSP00000366227:C95F;ENSP00000392762:C95F	ENSP00000366227:C95F	C	-	2	0	DCT	93929227	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.298000	0.78815	2.482000	0.83794	0.650000	0.86243	TGC	DCT	-	superfamily_Unchr_di-copper_centre	ENSG00000080166		0.567	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	-	0	49	0	C			95131226	-1	tier1	-	no_errors	ENST00000446125	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	95131226	C	A	95131226	3	1	165	1	0	0	0	0	1	0	0	0	4313	710	25	3	1414	3	DCT	13	95131226	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	10677262	95131226	20038652	45	41753											
DAPK2	23604	genome.wustl.edu	37	chr15	64200718	64200718	+	3'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccactgcaggtcaggccaGttaggaggtgctgctcctcc	6	8	14	13	0	1	0	1	0	0	0	3	1	3	1	4	5	3	4	4	5	1	1			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr15:64200718G>T	ENST00000457488.1	-	0	1144				DAPK2_ENST00000261891.3_3'UTR	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2						anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GGTCAGGCCAGTTAGGAGGTG	0.617																																																	0													45	32	36					15																	64200718		2201	4299	6500	SO:0001624	3_prime_UTR_variant	0			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.*1C>A	15.37:g.64200718G>T			E9JGM7|O75892|Q24JS1	RNA	SNP	-	NULL	ENST00000457488.1	37	NULL	CCDS10188.1	15																																																																																			DAPK2	-	-	ENSG00000035664		0.617	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	HGNC	protein_coding	OTTHUMT00000256479.1	-	0	72	0	G	NM_014326		64200718	-1	tier1	-	no_errors	ENST00000559731	ensembl	human	known	74_37	rna	9.76	37	4	SNP	0.001	T	T	64200718	G	T	64200718	1	4	165	0	1	0	0	0	0	0	0	0	4245	1044	36	3		3	DAPK2	15	64200718	3'UTR	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09		64200718	38330674	46	41754											
ZNF609	23060	genome.wustl.edu	37	chr15	64966761	64966761	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcagctacccccaaagttCgacttgtagagccccatagc	10	8	8	15	1	1	1	1	0	0	1	2	2	1	1	4	0	4	4	4	0	4	5			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr15:64966761C>T	ENST00000326648.3	+	4	1836	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	570						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						CCCCAAAGTTCGACTTGTAGA	0.522																																																	0													92	88	89					15																	64966761		2203	4299	6502	SO:0001587	stop_gained	0			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.1708C>T	15.37:g.64966761C>T	ENSP00000316527:p.Arg570*		Q0D2I2	Nonsense_Mutation	SNP	pfscan_Znf_C2H2	p.R570*	ENST00000326648.3	37	c.1708	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.436739	0.96168	.	.	ENSG00000180357	ENST00000326648	.	.	.	5.77	4.83	0.62350	.	0.050765	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8189	15.9634	0.79948	0.1359:0.8641:0.0:0.0	.	.	.	.	X	570	.	ENSP00000316527:R570X	R	+	1	2	ZNF609	62753814	0.996000	0.38824	0.972000	0.41901	0.980000	0.70556	3.230000	0.51286	1.396000	0.46663	0.655000	0.94253	CGA	ZNF609	-	NULL	ENSG00000180357		0.522	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	-	0	24	0	C	XM_042833		64966761	1	tier1	-	no_errors	ENST00000326648	ensembl	human	known	74_37	nonsense	13.04	20	3	SNP	0.983	T	T	64966761	C	T	64966761	4	4	165	1	0	0	0	0	0	1	0	0	18083	876	31	1	1722	1	ZNF609	15	64966761	Nonsense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	766043	64966761	37564631	47	41755											
ZNF609	23060	genome.wustl.edu	37	chr15	64967246	64967247	+	Frame_Shift_Ins	INS	-	-	A																															aggacaagaaaaagaaagacINSaaaaaaaagaaggaatcttc																										TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr15:64967246_64967247insA	ENST00000326648.3	+	4	2321_2322	c.2193_2194insA	c.(2194-2196)aaafs	p.K732fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	732	Poly-Lys.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K734fs*12(1)		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						AAAAGAAAGACAAAAAAAAGAA	0.49																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			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.2201dupA	15.37:g.64967254_64967254dupA	ENSP00000316527:p.Lys732fs		Q0D2I2	Frame_Shift_Ins	INS	pfscan_Znf_C2H2	p.K734fs	ENST00000326648.3	37	c.2193_2194	CCDS32270.1	15																																																																																			ZNF609	-	NULL	ENSG00000180357		0.49	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1		0	43	0	-	XM_042833		64967247	1	tier1		no_errors	ENST00000326648	ensembl	human	known	74_37	frame_shift_ins	6.67	28	2	INS	1.000:1.000	A	A	64967247	-	A	64967246	7	5	165	1	0	1	1	0	0	0	0	0	18083	477	17	0	2207	0	ZNF609	15	64967246	Frame_Shift_Ins	INS	-	TCGA-VR-A8ET-01A-11D-A403-09	485	64967246	37564146	48	41756											
HSD3B7	80270	genome.wustl.edu	37	chr16	30998318	30998318	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggagcatggccgggtctAtgtgggtgaggactgggcta	6	10	19	6	1	1	1	0	1	1	0	1	3	1	3	1	6	1	2	1	6	2	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr16:30998318A>T	ENST00000297679.5	+	6	782	c.689A>T	c.(688-690)tAt>tTt	p.Y230F	HSD3B7_ENST00000353250.5_Intron|AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000262520.6_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	230					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCCGGGTCTATGTGGGTGAG	0.637																																																	0													21	24	23					16																	30998318		2196	4298	6494	SO:0001583	missense	0			AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	18324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 3"	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.689A>T	16.37:g.30998318A>T	ENSP00000297679:p.Tyr230Phe		Q96M28|Q9BSN9	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA	p.Y230F	ENST00000297679.5	37	c.689	CCDS10698.1	16	.	.	.	.	.	.	.	.	.	.	A	35	5.482090	0.96307	.	.	ENSG00000099377	ENST00000297679	D	0.94046	-3.34	5.54	5.54	0.83059	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96610	0.9451	10	0.52906	T	0.07	-16.3523	14.6522	0.68805	1.0:0.0:0.0:0.0	.	230	Q9H2F3	3BHS7_HUMAN	F	230	ENSP00000297679:Y230F	ENSP00000297679:Y230F	Y	+	2	0	HSD3B7	30905819	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.093000	0.89531	2.098000	0.63641	0.459000	0.35465	TAT	HSD3B7	-	pfam_3Beta_OHSteriod_DH/Estase	ENSG00000099377		0.637	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B7	HGNC	protein_coding	OTTHUMT00000255554.2		0	14	0	A			30998318	1			no_errors	ENST00000297679	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T	T	30998318	A	T	30998318	3	4	165	1	0	0	0	0	1	0	0	0	7419	449	16	5	707	5	HSD3B7	16	30998318	Missense_Mutation	SNP	A	TCGA-VR-A8ET-01A-11D-A403-09		30998318	59356435	49	41757											
IRX6	79190	genome.wustl.edu	37	chr16	55362817	55362817	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgattggagcgcagggagtgCggcctggctgcgccccgctt	4	7	17	13	5	0	0	0	0	0	0	0	3	0	2	3	4	3	3	3	4	0	2			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr16:55362817C>T	ENST00000290552.7	+	5	2259	c.927C>T	c.(925-927)tgC>tgT	p.C309C	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	309					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.C309C(1)		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						GCAGGGAGTGCGGCCTGGCTG	0.657																																																	1	Substitution - coding silent(1)	large_intestine(1)											45	49	47					16																	55362817		2195	4294	6489	SO:0001819	synonymous_variant	0			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.927C>T	16.37:g.55362817C>T			B2RN06|Q7Z2K0	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.C309	ENST00000290552.7	37	c.927	CCDS32449.1	16																																																																																			IRX6	-	NULL	ENSG00000159387		0.657	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4		0	34	0	C	NM_024335		55362817	1			no_errors	ENST00000290552	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.170	T	T	55362817	C	T	55362817	2	4	165	1	0	0	0	0	0	0	0	1	7875	776	27	1		1	IRX6	16	55362817	Silent	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09	24364499	55362817	34991936	50	41758											
C16orf46	123775	genome.wustl.edu	37	chr16	81097443	81097443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgagaagacaataaacatGatttttttcactttttccat	14	16	4	7	1	1	3	1	1	0	2	3	4	2	3	1	0	1	0	1	0	4	6			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr16:81097443G>T	ENST00000299578.5	-	3	353	c.118C>A	c.(118-120)Cat>Aat	p.H40N	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_Intron|C16orf46_ENST00000378611.4_Missense_Mutation_p.H40N	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	40						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CAATAAACATGATTTTTTTCA	0.348																																																	0													200	183	189					16																	81097443		2202	4300	6502	SO:0001583	missense	0			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.118C>A	16.37:g.81097443G>T	ENSP00000299578:p.His40Asn		Q96MA7	Missense_Mutation	SNP	NULL	p.H40N	ENST00000299578.5	37	c.118	CCDS10932.1	16	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280999	0.40394	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.18016	2.24;2.24	5.65	3.69	0.42338	.	0.369039	0.26578	N	0.023594	T	0.19805	0.0476	L	0.34521	1.04	0.30660	N	0.754471	D;D	0.63880	0.993;0.98	P;P	0.52856	0.711;0.711	T	0.04650	-1.0936	10	0.51188	T	0.08	.	9.2817	0.37733	0.0781:0.1453:0.7766:0.0	.	40;40	Q6P387-2;Q6P387	.;CP046_HUMAN	N	40	ENSP00000367874:H40N;ENSP00000299578:H40N	ENSP00000299578:H40N	H	-	1	0	C16orf46	79654944	1.000000	0.71417	0.862000	0.33874	0.086000	0.17979	2.681000	0.46926	0.854000	0.35336	0.563000	0.77884	CAT	C16orf46	-	NULL	ENSG00000166455		0.348	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C16orf46	HGNC	protein_coding	OTTHUMT00000269054.2	-	0	108	0	G	NM_152337		81097443	-1	tier1	-	no_errors	ENST00000299578	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	T	T	81097443	G	T	81097443	3	4	165	1	0	0	0	0	1	0	0	0	1820	1290	45	3	1105	3	C16orf46	16	81097443	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	25734626	81097443	9257310	51	41759											
KRT38	8687	genome.wustl.edu	37	chr17	39596806	39596806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cattctcctgctccagctggCgcaccttctccaggtagttg	5	12	9	15	1	2	0	0	0	2	0	5	0	3	0	4	2	2	5	4	2	1	4			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr17:39596806C>T	ENST00000246646.3	-	1	367	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	123	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R123H(1)		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)				CTCCAGCTGGCGCACCTTCTC	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											127	111	117					17																	39596806		2203	4300	6503	SO:0001583	missense	0			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.368G>A	17.37:g.39596806C>T	ENSP00000246646:p.Arg123His		A2RRM5|Q6A164	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.R123H	ENST00000246646.3	37	c.368	CCDS11392.1	17	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429455	0.43122	.	.	ENSG00000171360	ENST00000246646	D	0.91843	-2.92	4.45	2.4	0.29515	Filament (1);	0.000000	0.49305	D	0.000141	D	0.90290	0.6963	M	0.84511	2.7	0.09310	N	1	P	0.51537	0.946	B	0.41571	0.36	D	0.84438	0.0581	10	0.66056	D	0.02	.	4.7923	0.13254	0.1725:0.6503:0.0:0.1772	.	123	O76015	KRT38_HUMAN	H	123	ENSP00000246646:R123H	ENSP00000246646:R123H	R	-	2	0	KRT38	36850332	0.000000	0.05858	0.181000	0.23098	0.989000	0.77384	0.024000	0.13555	0.479000	0.27511	0.650000	0.86243	CGC	KRT38	-	pfam_IF	ENSG00000171360		0.587	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT38	HGNC	protein_coding	OTTHUMT00000257307.2		0	64	0	C	NM_006771		39596806	-1			no_errors	ENST00000246646	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.007	T	T	39596806	C	T	39596806	3	4	165	1	0	0	0	0	1	0	0	0	8502	768	27	1	1030	1	KRT38	17	39596806	Missense_Mutation	SNP	C	TCGA-VR-A8ET-01A-11D-A403-09		39596806	41598404	52	41760											
MYST2	11143	genome.wustl.edu	37	chr17	47893185	47893185	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacacagacagacctatggGaacacacgggaacctctttt	14	7	9	11	1	1	2	0	0	1	2	1	5	1	4	2	2	3	0	2	2	4	3			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr17:47893185G>T	ENST00000259021.4	+	8	1153	c.873G>T	c.(871-873)ggG>ggT	p.G291G	KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000503935.2_Silent_p.G135G|KAT7_ENST00000510819.1_Silent_p.G122G|KAT7_ENST00000509773.1_Silent_p.G181G|KAT7_ENST00000424009.2_Silent_p.G261G|KAT7_ENST00000435742.2_Silent_p.G105G|KAT7_ENST00000454930.2_Silent_p.G152G	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	291					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)										AGACCTATGGGAACACACGGG	0.423																																																	0													101	102	101					17																	47893185		2203	4300	6503	SO:0001819	synonymous_variant	0			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.873G>T	17.37:g.47893185G>T			B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase	p.G291	ENST00000259021.4	37	c.873	CCDS11554.1	17																																																																																			KAT7	-	NULL	ENSG00000136504		0.423	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT7	HGNC	protein_coding	OTTHUMT00000366032.1	-	0	76	0	G	NM_007067		47893185	1	tier1	-	no_errors	ENST00000259021	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T	T	47893185	G	T	47893185	2	4	165	1	0	0	0	0	0	0	0	1	10141	1161	41	3		3	MYST2	17	47893185	Silent	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	8296379	47893185	33302025	53	41761											
CCDC40	55036	genome.wustl.edu	37	chr17	78032330	78032330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatggagaacttggccctGcatctcttctacatgcagaa	11	10	10	10	0	2	3	0	0	2	3	3	5	2	3	1	2	4	2	1	2	3	3			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr17:78032330G>A	ENST00000397545.4	+	8	1224	c.1197G>A	c.(1195-1197)ctG>ctA	p.L399L	CCDC40_ENST00000374876.4_Silent_p.L399L|CCDC40_ENST00000269318.5_Silent_p.L399L|CCDC40_ENST00000374877.3_Silent_p.L399L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	399					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACTTGGCCCTGCATCTCTTCT	0.612																																																	0													51	53	53					17																	78032330		2114	4230	6344	SO:0001819	synonymous_variant	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1197G>A	17.37:g.78032330G>A			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	pfam_E3_ubiquit_lig_BRE1	p.L399	ENST00000397545.4	37	c.1197	CCDS42395.1	17																																																																																			CCDC40	-	NULL	ENSG00000141519		0.612	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2		0	56	0	G	XM_371082		78032330	1			no_errors	ENST00000397545	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.769	A	A	78032330	G	A	78032330	2	1	165	1	0	0	0	0	0	0	0	1	2819	1306	46	3		3	CCDC40	17	78032330	Silent	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	30139145	78032330	3162880	54	41762											
CIDEA	1149	genome.wustl.edu	37	chr18	12264413	12264413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaccttgggagacaacacGcatttcatgatcttggaaaa	14	9	9	9	1	2	3	1	1	1	2	2	5	2	4	1	2	1	1	1	2	3	3	rs139265687		TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr18:12264413G>A	ENST00000320477.9	+	3	356	c.291G>A	c.(289-291)acG>acA	p.T97T	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	97	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAGACAACACGCATTTCATGA	0.488																																																	0													136	113	121					18																	12264413		2203	4300	6503	SO:0001819	synonymous_variant	0			AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.291G>A	18.37:g.12264413G>A			B0YIY7|Q6UPR7	Silent	SNP	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.T97	ENST00000320477.9	37	c.291	CCDS11856.1	18																																																																																			CIDEA	-	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	ENSG00000176194		0.488	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CIDEA	HGNC	protein_coding	OTTHUMT00000254599.2	-	0	75	0	G	NM_001279		12264413	1	tier1	rs139265687	no_errors	ENST00000320477	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.797	A	A	12264413	G	A	12264413	2	1	165	1	0	0	0	0	0	0	0	1	3432	1074	38	1		1	CIDEA	18	12264413	Silent	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09		12264413	65812835	55	41763											
HRH4	59340	genome.wustl.edu	37	chr18	22057140	22057140	+	Missense_Mutation	SNP	T	T	C	0	1	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	agagtagtctcatgttttccTcaagaaccaagatgaatagc	14	11	8	8	0	2	4	2	1	1	3	4	4	3	4	2	0	2	2	2	0	6	4			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr18:22057140T>C	ENST00000256906.4	+	3	887	c.787T>C	c.(787-789)Tca>Cca	p.S263P	HRH4_ENST00000426880.2_Missense_Mutation_p.S175P	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	263					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	CATGTTTTCCTCAAGAACCAA	0.418																																																	0													114	114	114					18																	22057140		2203	4300	6503	SO:0001583	missense	0			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"GPCR / Class A : Histamine receptors"	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.787T>C	18.37:g.22057140T>C	ENSP00000256906:p.Ser263Pro		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn	p.S263P	ENST00000256906.4	37	c.787	CCDS11887.1	18	.	.	.	.	.	.	.	.	.	.	T	10.76	1.441983	0.25900	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.71222	-0.55;-0.44	5.79	-0.999	0.10208	GPCR, rhodopsin-like superfamily (1);	0.928471	0.09112	N	0.846918	T	0.47710	0.1460	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.23154	-1.0196	10	0.27082	T	0.32	-1.7183	4.0167	0.09647	0.4118:0.3044:0.0:0.2838	.	175;263	B2KJ48;Q9H3N8	.;HRH4_HUMAN	P	263;175	ENSP00000256906:S263P;ENSP00000402526:S175P	ENSP00000256906:S263P	S	+	1	0	HRH4	20311138	0.000000	0.05858	0.026000	0.17262	0.028000	0.11728	0.043000	0.13971	-0.153000	0.11137	0.533000	0.62120	TCA	HRH4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt	ENSG00000134489		0.418	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH4	HGNC	protein_coding	OTTHUMT00000254904.1		0	25	0	T			22057140	1			no_errors	ENST00000256906	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.002	C	C	22057140	T	C	22057140	3	2	165	1	0	0	0	0	1	0	0	0	7385	1551	54	4	797	4	HRH4	18	22057140	Missense_Mutation	SNP	T	TCGA-VR-A8ET-01A-11D-A403-09	9792727	22057140	56020108	56	41764											
NOL4	8715	genome.wustl.edu	37	chr18	31599294	31599294	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcataccttgcttccattTtctctcgcctctcgttccat	5	17	4	15	2	3	0	1	0	2	0	8	1	5	0	4	0	2	2	4	0	1	6			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr18:31599294T>A	ENST00000261592.5	-	6	1341	c.1044A>T	c.(1042-1044)gaA>gaT	p.E348D	NOL4_ENST00000535475.1_Missense_Mutation_p.E193D|NOL4_ENST00000535384.1_Missense_Mutation_p.E63D|NOL4_ENST00000269185.4_Missense_Mutation_p.E234D|NOL4_ENST00000589544.1_Missense_Mutation_p.E348D|NOL4_ENST00000538587.1_Missense_Mutation_p.E274D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	348						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGCTTCCATTTTCTCTCGCCT	0.343																																																	0													108	95	99					18																	31599294		2203	4300	6503	SO:0001583	missense	0			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1044A>T	18.37:g.31599294T>A	ENSP00000261592:p.Glu348Asp		B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	NULL	p.E348D	ENST00000261592.5	37	c.1044	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485613	0.84854	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	5.75	4.6	0.57074	.	0.000000	0.64402	D	0.000002	D	0.85444	0.5698	L	0.40543	1.245	0.39868	D	0.97347	D;D;B;P;P;B;D;D	0.63046	0.992;0.99;0.233;0.729;0.815;0.233;0.974;0.99	P;D;B;B;B;B;D;P	0.72982	0.793;0.979;0.065;0.199;0.36;0.065;0.953;0.848	D	0.84549	0.0643	10	0.35671	T	0.21	-23.3998	11.1841	0.48646	0.0:0.0714:0.0:0.9286	.	234;97;63;274;348;63;348;193	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	D	348;234;97;63;193;274	ENSP00000261592:E348D;ENSP00000269185:E234D;ENSP00000445733:E63D;ENSP00000438190:E193D;ENSP00000443472:E274D	ENSP00000261592:E348D	E	-	3	2	NOL4	29853292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.067000	0.41461	2.204000	0.70986	0.443000	0.29094	GAA	NOL4	-	NULL	ENSG00000101746		0.343	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1	-	0	42	0	T	NM_003787		31599294	-1	tier1	-	no_errors	ENST00000261592	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	A	A	31599294	T	A	31599294	3	1	165	1	0	0	0	0	1	0	0	0	10563	1838	64	5	896	5	NOL4	18	31599294	Missense_Mutation	SNP	T	TCGA-VR-A8ET-01A-11D-A403-09	9542154	31599294	46477954	57	41765											
MATK	4145	genome.wustl.edu	37	chr19	3779411	3779411	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgagcggtgttcacgagGgctcgaccccgggtccgcag	6	6	16	13	5	1	1	1	1	0	0	3	3	2	1	3	3	2	4	3	3	0	1			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr19:3779411G>T	ENST00000310132.6	-	11	1364	c.966C>A	c.(964-966)gcC>gcA	p.A322A	MATK_ENST00000585778.1_Silent_p.A322A|MATK_ENST00000395040.2_Silent_p.A281A|MATK_ENST00000395045.2_Silent_p.A323A	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	322	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTCACGAGGGCTCGACCCC	0.652																																																	0													45	48	47					19																	3779411		2203	4300	6503	SO:0001819	synonymous_variant	0			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.966C>A	19.37:g.3779411G>T			B3KNZ9|Q9NST8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.A323	ENST00000310132.6	37	c.969	CCDS12114.1	19																																																																																			MATK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000007264		0.652	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	HGNC	protein_coding	OTTHUMT00000453639.1	-	0	47	0	G	NM_139355		3779411	-1	tier1	-	no_errors	ENST00000395045	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.860	T	T	3779411	G	T	3779411	2	4	165	1	0	0	0	0	0	0	0	1	9370	1219	43	3		3	MATK	19	3779411	Silent	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09		3779411	55349572	58	41766											
MAG	4099	genome.wustl.edu	37	chr19	35786626	35786626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccggatgagctgcggcccGctgtggtgcatggtgtctgg	3	10	17	11	3	1	1	0	1	1	0	2	2	2	2	2	5	3	3	2	5	0	0			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr19:35786626G>A	ENST00000392213.3	+	4	316	c.157G>A	c.(157-159)Gct>Act	p.A53T	MAG_ENST00000361922.4_Missense_Mutation_p.A53T|MAG_ENST00000537831.2_Missense_Mutation_p.A28T|MAG_ENST00000597035.1_Missense_Mutation_p.A53T	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	53	Ig-like V-type.				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)	p.A53T(4)		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)			GCTGCGGCCCGCTGTGGTGCA	0.622																																																	4	Substitution - Missense(4)	large_intestine(2)|lung(2)											78	81	80					19																	35786626		2203	4300	6503	SO:0001583	missense	0			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.157G>A	19.37:g.35786626G>A	ENSP00000376048:p.Ala53Thr		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A53T	ENST00000392213.3	37	c.157	CCDS12455.1	19	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687043	0.29962	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.43294	0.95;0.95;0.95	5.4	3.25	0.37280	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.316454	0.34133	N	0.004234	T	0.13628	0.0330	N	0.05383	-0.06	0.20403	N	0.999909	P;P;P	0.36144	0.48;0.539;0.539	B;B;B	0.21151	0.033;0.024;0.024	T	0.16453	-1.0402	10	0.09843	T	0.71	.	4.9197	0.13864	0.0804:0.1469:0.6207:0.1519	.	90;53;53	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	T	90;53;53;28	ENSP00000355234:A53T;ENSP00000376048:A53T;ENSP00000440695:A28T	ENSP00000262624:A90T	A	+	1	0	MAG	40478466	0.027000	0.19231	0.106000	0.21319	0.842000	0.47809	0.990000	0.29642	0.775000	0.33450	-0.374000	0.07098	GCT	MAG	-	smart_Ig_sub	ENSG00000105695		0.622	MAG-001	KNOWN	basic|CCDS	protein_coding	MAG	HGNC	protein_coding	OTTHUMT00000466071.1		0	52	0	G	NM_080600		35786626	1			no_errors	ENST00000392213	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.466	A	A	35786626	G	A	35786626	3	1	165	1	0	0	0	0	1	0	0	0	9198	1087	38	1	163	1	MAG	19	35786626	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	32007215	35786626	23342357	59	41767											
CBLC	23624	genome.wustl.edu	37	chr19	45295697	45295697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagctctgcaagatctgtGctgagagcaacaaggatgtg	11	10	13	7	0	2	3	0	2	2	2	2	5	2	4	0	1	5	4	0	1	3	1			TCGA-VR-A8ET-01A-11D-A403-09	TCGA-VR-A8ET-10B-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c3a0d49-db87-481c-a231-832550107f70	2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2	g.chr19:45295697G>A	ENST00000270279.3	+	7	1126	c.1063G>A	c.(1063-1065)Gct>Act	p.A355T	CBLC_ENST00000341505.4_Missense_Mutation_p.A309T	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	355	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CAAGATCTGTGCTGAGAGCAA	0.607			M		AML																																			Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													96	84	88					19																	45295697		2203	4300	6503	SO:0001583	missense	0			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1063G>A	19.37:g.45295697G>A	ENSP00000270279:p.Ala355Thr		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.A355T	ENST00000270279.3	37	c.1063	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	10.41	1.341560	0.24339	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	T;T	0.78595	-1.19;-1.19	4.13	1.9	0.25705	Zinc finger, RING-type (2);SH2 motif (1);Zinc finger, C3HC4 RING-type (1);	0.346220	0.21166	N	0.079071	T	0.54143	0.1840	N	0.12887	0.27	0.39614	D	0.969925	B;B	0.33448	0.312;0.412	B;B	0.24155	0.041;0.051	T	0.49943	-0.8885	10	0.36615	T	0.2	-7.737	8.797	0.34885	0.1941:0.0:0.8059:0.0	.	309;355	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	T	355;309	ENSP00000270279:A355T;ENSP00000340250:A309T	ENSP00000270279:A355T	A	+	1	0	CBLC	49987537	0.997000	0.39634	0.302000	0.25058	0.362000	0.29581	3.314000	0.51943	0.493000	0.27837	0.643000	0.83706	GCT	CBLC	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000142273		0.607	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2		0	22	0	G	NM_012116		45295697	1			no_errors	ENST00000270279	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.995	A	A	45295697	G	A	45295697	3	1	165	1	0	0	0	0	1	0	0	0	2709	1319	46	3	1089	3	CBLC	19	45295697	Missense_Mutation	SNP	G	TCGA-VR-A8ET-01A-11D-A403-09	9509071	45295697	13833286	60	41768											
CCDC27	148870	genome.wustl.edu	37	chr1	3679830	3679830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatgaggagggaagcgaGgaggaggaagaggaggaagg	14	2	23	2	1	0	2	0	1	0	1	0	10	0	9	0	8	2	1	0	8	3	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:3679830G>T	ENST00000294600.2	+	7	1197	c.1113G>T	c.(1111-1113)gaG>gaT	p.E371D		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	371	Glu-rich.							p.E371E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		agggaagcgaggaggaggaag	0.657																																																	1	Substitution - coding silent(1)	lung(1)											68	70	69					1																	3679830		2199	4299	6498	SO:0001583	missense	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1113G>T	1.37:g.3679830G>T	ENSP00000294600:p.Glu371Asp		Q5TBV3|Q96M50	Missense_Mutation	SNP	superfamily_Prefoldin	p.E371D	ENST00000294600.2	37	c.1113	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	G	5.875	0.345517	0.11126	.	.	ENSG00000162592	ENST00000294600	T	0.25579	1.79	3.35	2.42	0.29668	.	0.239239	0.21658	U	0.071067	T	0.16300	0.0392	L	0.29908	0.895	0.09310	N	1	B	0.23185	0.081	B	0.23419	0.046	T	0.18304	-1.0341	10	0.30854	T	0.27	-0.667	7.1133	0.25403	0.1382:0.0:0.8618:0.0	.	371	Q2M243	CCD27_HUMAN	D	371	ENSP00000294600:E371D	ENSP00000294600:E371D	E	+	3	2	CCDC27	3669690	0.775000	0.28604	0.006000	0.13384	0.009000	0.06853	1.585000	0.36600	0.672000	0.31204	0.462000	0.41574	GAG	CCDC27	-	NULL	ENSG00000162592		0.657	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1		0	83	0	G	NM_152492		3679830	1			no_errors	ENST00000294600	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.037	T	T	3679830	G	T	3679830	3	4	166	1	0	0	0	0	1	0	0	0	2808	991	35	3	1139	3	CCDC27	1	3679830	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09		3679830	245570791	1	41769											
HTR1D	3352	genome.wustl.edu	37	chr1	23520239	23520239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcccagacaatggcgatCatggtggccgcgtggccagc	8	6	15	12	3	1	1	1	0	0	1	1	2	1	1	3	5	1	0	3	5	1	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:23520239C>T	ENST00000374619.1	-	1	983	c.474G>A	c.(472-474)atG>atA	p.M158I	HTR1D_ENST00000314113.3_Missense_Mutation_p.M158I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	158					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAATGGCGATCATGGTGGCCG	0.592																																																	0													68	66	67					1																	23520239		2203	4300	6503	SO:0001583	missense	0			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.474G>A	1.37:g.23520239C>T	ENSP00000363748:p.Met158Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.M158I	ENST00000374619.1	37	c.474	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479514	0.63849	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.35605	1.3;1.3	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.62224	-0.6899	10	0.66056	D	0.02	.	18.3358	0.90287	0.0:1.0:0.0:0.0	.	158	P28221	5HT1D_HUMAN	I	158	ENSP00000313661:M158I;ENSP00000363748:M158I	ENSP00000313661:M158I	M	-	3	0	HTR1D	23392826	1.000000	0.71417	0.999000	0.59377	0.218000	0.24690	7.818000	0.86416	2.592000	0.87571	0.591000	0.81541	ATG	HTR1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179546		0.592	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	-	0	18	0	C	NM_000864		23520239	-1	tier1	-	no_errors	ENST00000314113	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T	T	23520239	C	T	23520239	3	4	166	1	0	0	0	0	1	0	0	0	7465	826	29	3	663	3	HTR1D	1	23520239	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	19840409	23520239	225730382	2	41770											
TCEB3	6924	genome.wustl.edu	37	chr1	24078325	24078325	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accatgtcttttgaatcctaCctcagctatgaccagccccg	9	11	6	15	1	2	2	1	2	1	0	3	2	3	2	6	0	3	1	6	0	3	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:24078325C>T	ENST00000418390.2	+	4	1579	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	TCEB3_ENST00000609199.1_Silent_p.Y410Y	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	436					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)		TTGAATCCTACCTCAGCTATG	0.418											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													112	130	124					1																	24078325		2202	4300	6502	SO:0001819	synonymous_variant	0			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.1308C>T	1.37:g.24078325C>T		768	B2R7Q8|Q8IXH1	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom	p.Y436	ENST00000418390.2	37	c.1308	CCDS239.2	1																																																																																			TCEB3	-	NULL	ENSG00000011007		0.418	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	-	0	63	0	C	NM_003198		24078325	1	tier1	-	no_errors	ENST00000418390	ensembl	human	known	74_37	silent	11.11	40	5	SNP	1.000	T	T	24078325	C	T	24078325	2	4	166	1	0	0	0	0	0	0	0	1	15728	518	18	3		3	TCEB3	1	24078325	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	558086	24078325	225172296	3	41771											
CSMD2	114784	genome.wustl.edu	37	chr1	34080113	34080113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cagagacttaccaaagcccaCgggcagtgctattttccagg	11	8	10	12	1	0	1	0	0	0	1	1	2	1	1	3	2	3	2	3	2	3	4	rs568684319		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:34080113C>T	ENST00000373380.1	-	19	2963	c.2743G>A	c.(2743-2745)Gtg>Atg	p.V915M	CSMD2_ENST00000373377.1_Missense_Mutation_p.V141M|CSMD2_ENST00000373388.2_Missense_Mutation_p.V141M|CSMD2_ENST00000373381.4_Missense_Mutation_p.V2042M			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2002	Sushi 5. {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)				CCAAAGCCCACGGGCAGTGCT	0.557																																																	0													75	69	71					1																	34080113		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2743G>A	1.37:g.34080113C>T	ENSP00000362478:p.Val915Met		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.V2042M	ENST00000373380.1	37	c.6124		1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885517	0.72410	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.47	4.56	0.56223	CUB (5);	0.000000	0.64402	D	0.000001	T	0.38719	0.1051	M	0.66378	2.025	0.51012	D	0.999907	P;D;D	0.76494	0.956;0.974;0.999	P;D;D	0.72982	0.751;0.913;0.979	T	0.19031	-1.0318	10	0.59425	D	0.04	.	13.2507	0.60050	0.0:0.9238:0.0:0.0762	.	915;2002;2042	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	M	2042;915;141;141	ENSP00000362479:V2042M;ENSP00000362478:V915M;ENSP00000362475:V141M;ENSP00000362486:V141M	ENSP00000241312:V2002M	V	-	1	0	CSMD2	33852700	1.000000	0.71417	0.844000	0.33320	0.744000	0.42396	4.977000	0.63792	1.316000	0.45131	0.655000	0.94253	GTG	CSMD2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000121904		0.557	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4		0	59	0	C	NM_052896		34080113	-1			no_errors	ENST00000373381	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.996	T	T	34080113	C	T	34080113	3	4	166	1	0	0	0	0	1	0	0	0	3954	536	19	1	4579	1	CSMD2	1	34080113	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	10001788	34080113	215170508	4	41772											
ZNF643	65243	genome.wustl.edu	37	chr1	40929164	40929164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatactggagaaaaaccttAtgattgtaatgagtgtggaa	15	12	10	4	0	1	3	1	2	0	1	1	5	1	4	1	2	2	1	1	2	6	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:40929164A>G	ENST00000411995.2	+	6	1883	c.1508A>G	c.(1507-1509)tAt>tGt	p.Y503C	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.Y401C|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	503					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)										GAAAAACCTTATGATTGTAAT	0.368																																																	0													58	59	59					1																	40929164		2203	4300	6503	SO:0001583	missense	0			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1508A>G	1.37:g.40929164A>G	ENSP00000399664:p.Tyr503Cys		Q5QPL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Y503C	ENST00000411995.2	37	c.1508	CCDS452.2	1	.	.	.	.	.	.	.	.	.	.	.	12.54	1.969706	0.34754	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.25414	1.8;1.8	3.33	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49508	0.1561	M	0.89478	3.035	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.36939	-0.9727	9	0.72032	D	0.01	.	2.7573	0.05296	0.6533:0.0:0.1236:0.2231	.	503	Q9UJL9	ZN643_HUMAN	C	434;503;401	ENSP00000399664:Y503C;ENSP00000354547:Y401C	ENSP00000354547:Y401C	Y	+	2	0	ZNF643	40701751	0.105000	0.21958	0.989000	0.46669	0.996000	0.88848	1.511000	0.35801	0.665000	0.31066	0.533000	0.62120	TAT	ZFP69B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187801		0.368	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP69B	HGNC	protein_coding	OTTHUMT00000019078.2	-	0	48	0	A	NM_023070		40929164	1	tier1	-	no_errors	ENST00000411995	ensembl	human	known	74_37	missense	23.08	30	9	SNP	0.025	G	G	40929164	A	G	40929164	3	3	166	1	0	0	0	0	1	0	0	0	18107	449	16	4	1526	4	ZNF643	1	40929164	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	6849051	40929164	208321457	5	41773											
TESK2	10420	genome.wustl.edu	37	chr1	45810676	45810676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccattttcttcctggaGaatggagcagtccatagcct	12	11	8	10	0	1	1	0	0	1	1	3	3	3	2	4	2	3	1	4	2	4	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:45810676G>T	ENST00000372086.3	-	11	1952	c.1552C>A	c.(1552-1554)Ctc>Atc	p.L518I	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.L489I|TESK2_ENST00000538496.1_Missense_Mutation_p.L435I|TESK2_ENST00000341771.6_Missense_Mutation_p.L489I	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	518					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)					TCTTCCTGGAGAATGGAGCAG	0.557																																																	0													128	129	129					1																	45810676		1892	4125	6017	SO:0001583	missense	0			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.1552C>A	1.37:g.45810676G>T	ENSP00000361158:p.Leu518Ile		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L518I	ENST00000372086.3	37	c.1552	CCDS41323.1	1	.	.	.	.	.	.	.	.	.	.	G	6.609	0.480716	0.12581	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.74526	-0.69;-0.58;-0.69;-0.85	5.5	-0.808	0.10868	.	0.785958	0.11746	N	0.533560	T	0.47619	0.1455	N	0.08118	0	0.09310	N	0.999994	B;B	0.19817	0.039;0.023	B;B	0.15870	0.014;0.006	T	0.32666	-0.9898	10	0.51188	T	0.08	2.0196	2.7268	0.05216	0.3902:0.1087:0.3899:0.1112	.	489;518	Q96S53-3;Q96S53	.;TESK2_HUMAN	I	489;518;502;489;435	ENSP00000361156:L489I;ENSP00000361158:L518I;ENSP00000343940:L489I;ENSP00000441746:L435I	ENSP00000343940:L489I	L	-	1	0	TESK2	45583263	0.000000	0.05858	0.045000	0.18777	0.633000	0.38033	-0.533000	0.06157	-0.055000	0.13244	0.650000	0.86243	CTC	TESK2	-	NULL	ENSG00000070759		0.557	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1		0	32	0	G	NM_007170		45810676	-1			no_errors	ENST00000372086	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.002	T	T	45810676	G	T	45810676	3	4	166	1	0	0	0	0	1	0	0	0	15815	942	33	3	167	3	TESK2	1	45810676	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	4881512	45810676	203439945	6	41774											
JAK1	3716	genome.wustl.edu	37	chr1	65321352	65321352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctcgatctgaaagttCttgaactgcttctgggcacc	8	12	9	12	1	3	2	0	2	3	0	4	3	3	2	2	1	3	4	2	1	2	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:65321352C>A	ENST00000342505.4	-	11	1736	c.1488G>T	c.(1486-1488)aaG>aaT	p.K496N		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	496	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|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 phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.K496N(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCTGAAAGTTCTTGAACTGCT	0.502			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	1	Substitution - Missense(1)	lung(1)											65	65	65					1																	65321352		1958	4146	6104	SO:0001583	missense	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1488G>T	1.37:g.65321352C>A	ENSP00000343204:p.Lys496Asn		Q59GQ2|Q9UD26	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom	p.K496N	ENST00000342505.4	37	c.1488	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330463	0.81690	.	.	ENSG00000162434	ENST00000342505	T	0.09163	3.01	4.53	4.53	0.55603	SH2 motif (3);	.	.	.	.	T	0.24005	0.0581	M	0.81497	2.545	0.53005	D	0.999966	D	0.76494	0.999	D	0.80764	0.994	T	0.00688	-1.1609	9	0.87932	D	0	-7.3002	11.0204	0.47715	0.0:0.9137:0.0:0.0863	.	496	P23458	JAK1_HUMAN	N	496	ENSP00000343204:K496N	ENSP00000343204:K496N	K	-	3	2	JAK1	65093940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.199000	0.58426	2.519000	0.84933	0.655000	0.94253	AAG	JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,smart_SH2,prints_Tyr_kinase_non-rcpt_Jak1,pfscan_SH2	ENSG00000162434		0.502	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1		0	45	0	C	NM_002227		65321352	-1			no_errors	ENST00000342505	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	A	A	65321352	C	A	65321352	3	1	166	1	0	0	0	0	1	0	0	0	7964	912	32	3	2036	3	JAK1	1	65321352	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	19510676	65321352	183929269	7	41775											
COL11A1	1301	genome.wustl.edu	37	chr1	103352393	103352393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggatggctgagttgcaGgtctttacaagttcgggctg	7	12	15	7	1	2	1	1	1	1	0	3	2	2	2	0	4	2	5	0	4	2	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:103352393G>T	ENST00000370096.3	-	63	5140	c.4828C>A	c.(4828-4830)Ctg>Atg	p.L1610M	COL11A1_ENST00000512756.1_Missense_Mutation_p.L1494M|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1571M|COL11A1_ENST00000358392.2_Missense_Mutation_p.L1622M	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1610	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)		CTGAGTTGCAGGTCTTTACAA	0.438																																																	0													183	180	181					1																	103352393		2203	4300	6503	SO:0001583	missense	0			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.4828C>A	1.37:g.103352393G>T	ENSP00000359114:p.Leu1610Met		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.L1622M	ENST00000370096.3	37	c.4864	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795818	0.70452	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.53	4.62	0.57501	Fibrillar collagen, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91610	0.7349	H	0.97265	3.97	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.998;0.997;0.998;0.999;0.997	D	0.93833	0.7129	10	0.87932	D	0	.	12.3104	0.54925	0.1417:0.0:0.8583:0.0	.	1494;1571;1622;1610;830	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	M	1610;1622;1571;830;1494	ENSP00000359114:L1610M;ENSP00000351163:L1622M;ENSP00000302551:L1571M;ENSP00000426533:L1494M	ENSP00000302551:L1571M	L	-	1	2	COL11A1	103124981	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	3.550000	0.53691	1.335000	0.45486	0.313000	0.20887	CTG	COL11A1	-	pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	ENSG00000060718		0.438	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0	68	0	G	NM_080630		103352393	-1			no_errors	ENST00000358392	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	T	T	103352393	G	T	103352393	3	4	166	1	0	0	0	0	1	0	0	0	3674	991	35	3	612	3	COL11A1	1	103352393	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	38031041	103352393	145898228	8	41776											
SORT1	6272	genome.wustl.edu	37	chr1	109898040	109898040	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaattcagtccgaataaaGgtgttattgatgagatctgt	13	13	9	6	1	2	2	1	2	1	1	3	4	3	2	2	1	0	1	2	1	5	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:109898040G>T	ENST00000256637.6	-	4	550	c.492C>A	c.(490-492)acC>acA	p.T164T	SORT1_ENST00000482236.1_5'UTR|SORT1_ENST00000538502.1_Silent_p.T28T	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	164					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCCGAATAAAGGTGTTATTGA	0.398																																																	0													146	130	136					1																	109898040		2203	4300	6503	SO:0001819	synonymous_variant	0			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.492C>A	1.37:g.109898040G>T			B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	pfam_BNR_rpt,smart_VPS10	p.T164	ENST00000256637.6	37	c.492	CCDS798.1	1																																																																																			SORT1	-	smart_VPS10	ENSG00000134243		0.398	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1	-	0	75	0	G	NM_002959		109898040	-1	tier1	-	no_errors	ENST00000256637	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T	T	109898040	G	T	109898040	2	4	166	1	0	0	0	0	0	0	0	1	14980	987	35	3		3	SORT1	1	109898040	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	6545647	109898040	139352581	9	41777											
FLG	2312	genome.wustl.edu	37	chr1	152284119	152284119	+	Silent	SNP	T	T	C	0	1	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	cctgacactgactgtgtgtcTgactcctctgaatgtccctc	6	13	8	14	0	2	4	0	4	2	0	5	4	4	4	3	0	0	0	3	0	1	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:152284119T>C	ENST00000368799.1	-	3	3278	c.3243A>G	c.(3241-3243)tcA>tcG	p.S1081S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1081	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)			ACTGTGTGTCTGACTCCTCTG	0.582									Ichthyosis																																								0													376	377	377					1																	152284119		2203	4300	6503	SO:0001819	synonymous_variant	0	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.3243A>G	1.37:g.152284119T>C			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S1081	ENST00000368799.1	37	c.3243	CCDS30860.1	1																																																																																			FLG	-	prints_Filaggrin	ENSG00000143631		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	139	0	T	NM_002016		152284119	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.000	C	C	152284119	T	C	152284119	2	2	166	1	0	0	0	0	0	0	0	1	5944	1567	55	4		4	FLG	1	152284119	Silent	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	42386079	152284119	96966502	10	41778											
RUSC1	23623	genome.wustl.edu	37	chr1	155296483	155296483	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagccattgtcggtgctcacTttccacctggacctgctctt	5	13	8	15	1	2	0	1	0	1	0	4	1	3	1	4	2	3	2	4	2	0	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:155296483T>C	ENST00000368352.5	+	8	2125	c.1974T>C	c.(1972-1974)acT>acC	p.T658T	RUSC1_ENST00000368354.3_Intron|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Silent_p.T189T|RUSC1_ENST00000368347.4_Silent_p.T248T|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000292254.4_Silent_p.T189T	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	658	Interaction with IKBKG.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CGGTGCTCACTTTCCACCTGG	0.637																																																	0													62	65	64					1																	155296483		2203	4300	6503	SO:0001819	synonymous_variant	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1974T>C	1.37:g.155296483T>C			B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.T658	ENST00000368352.5	37	c.1974	CCDS41410.1	1																																																																																			RUSC1	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000160753		0.637	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	-	0	47	0	T			155296483	1	tier1	-	no_errors	ENST00000368352	ensembl	human	known	74_37	silent	41.67	14	10	SNP	1.000	C	C	155296483	T	C	155296483	2	2	166	1	0	0	0	0	0	0	0	1	13795	1596	56	4		4	RUSC1	1	155296483	Silent	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	3012364	155296483	93954138	11	41779											
C1orf61	10485	genome.wustl.edu	37	chr1	156374385	156374386	+	Frame_Shift_Ins	INS	-	-	T																															ccagatgaagtacattcttcINStttttggtctgaaaagaaaa																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:156374385_156374386insT	ENST00000368243.1	-	7	547_548	c.431_432insA	c.(430-432)aagfs	p.K144fs	C1orf61_ENST00000488498.2_5'UTR	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	144						nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					GTACATTCTTCTTTTTGGTCTG	0.431																																																	0																																										SO:0001589	frameshift_variant	0				CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"contingent replication of cDNA-4", "transcriptional activator of the c fos promoter"					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.432dupA	1.37:g.156374390_156374390dupT	ENSP00000357226:p.Lys144fs		B1ALL5|B1ALL8	Frame_Shift_Ins	INS	NULL	p.K145fs	ENST00000368243.1	37	c.432_431	CCDS1142.1	1																																																																																			C1orf61	-	NULL	ENSG00000125462		0.431	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf61	HGNC	protein_coding	OTTHUMT00000075988.1		0	70	0	-	NM_006365		156374386	-1	tier1		no_errors	ENST00000368243	ensembl	human	known	74_37	frame_shift_ins	47.62	11	10	INS	0.984:0.983	T	T	156374386	-	T	156374385	7	5	166	1	0	1	1	0	0	0	0	0	2059	912	32	0	42	0	C1orf61	1	156374385	Frame_Shift_Ins	INS	-	TCGA-VR-A8EU-01A-11D-A36J-09	1077902	156374385	92876236	12	41780											
C1orf111	284680	genome.wustl.edu	37	chr1	162344173	162344173	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatttcttggtggcttctcGagggcaagtgttctctgggg	4	14	16	7	1	3	0	0	0	3	0	5	2	3	1	0	6	0	3	0	6	1	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:162344173G>A	ENST00000367935.5	-	3	530	c.451C>T	c.(451-453)Cga>Tga	p.R151*	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	151										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GTGGCTTCTCGAGGGCAAGTG	0.552																																																	0													188	182	184					1																	162344173		2203	4300	6503	SO:0001587	stop_gained	0			BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.451C>T	1.37:g.162344173G>A	ENSP00000356912:p.Arg151*		Q6X961|Q8NEC3	Nonsense_Mutation	SNP	NULL	p.R151*	ENST00000367935.5	37	c.451	CCDS1238.1	1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882326	0.72294	.	.	ENSG00000171722	ENST00000367935	.	.	.	5.11	3.16	0.36331	.	0.381500	0.22628	N	0.057612	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1527	6.4673	0.21990	0.0942:0.0:0.7167:0.1891	.	.	.	.	X	151	.	ENSP00000356912:R151X	R	-	1	2	C1orf111	160610797	0.001000	0.12720	0.067000	0.19924	0.742000	0.42306	0.974000	0.29436	1.071000	0.40834	0.655000	0.94253	CGA	C1orf111	-	NULL	ENSG00000171722		0.552	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf111	HGNC	protein_coding	OTTHUMT00000076791.2	-	0	49	0	G	NM_182581		162344173	-1	tier1	-	no_errors	ENST00000367935	ensembl	human	known	74_37	nonsense	31.82	15	7	SNP	0.794	A	A	162344173	G	A	162344173	4	1	166	1	0	0	0	0	0	1	0	0	1991	1066	37	1	338	1	C1orf111	1	162344173	Nonsense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	5969788	162344173	86906448	13	41781											
BAT2L2	23215	genome.wustl.edu	37	chr1	171560972	171560972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaggcgatcaaaaccgaaGaaacaaaatcttaaaggcta	19	6	7	9	2	3	1	2	0	1	1	3	3	3	1	1	2	2	1	1	2	9	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:171560972G>C	ENST00000338920.4	+	34	8677	c.8440G>C	c.(8440-8442)Gaa>Caa	p.E2814Q	PRRC2C_ENST00000367742.3_Missense_Mutation_p.E2816Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E2895Q|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E2749Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2893					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CAAAACCGAAGAAACAAAATC	0.478																																																	0													88	89	88					1																	171560972		1843	4083	5926	SO:0001583	missense	0			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.8440G>C	1.37:g.171560972G>C	ENSP00000343629:p.Glu2814Gln		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.E2895Q	ENST00000338920.4	37	c.8683	CCDS1296.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.08|16.08	3.020425|3.020425	0.54576|0.54576	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	T;T;T;T|.	0.04454|.	3.84;3.65;3.62;3.62|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|.	.|.	.|.	.|.	T|T	0.46964|0.46964	0.1420|0.1420	L|L	0.27053|0.27053	0.805|0.805	0.41409|0.41409	D|D	0.987729|0.987729	P;D|.	0.89917|.	0.751;1.0|.	B;D|.	0.71870|.	0.229;0.975|.	T|T	0.39187|0.39187	-0.9626|-0.9626	9|5	0.72032|.	D|.	0.01|.	.|.	19.5655|19.5655	0.95391|0.95391	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2749;2814|.	B7WNZ6;Q9Y520-4|.	.;.|.	Q|N	2895;2847;2749;2816;2814;2650|1296	ENSP00000375928:E2895Q;ENSP00000410219:E2749Q;ENSP00000356716:E2816Q;ENSP00000343629:E2814Q|.	ENSP00000343629:E2814Q|.	E|K	+|+	1|3	0|2	PRRC2C|PRRC2C	169827595|169827595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.954000|8.954000	0.93051|0.93051	2.639000|2.639000	0.89480|0.89480	0.591000|0.591000	0.81541|0.81541	GAA|AAG	PRRC2C	-	NULL	ENSG00000117523		0.478	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	-	0	108	0	G	NM_015172		171560972	1	tier1	-	no_errors	ENST00000392078	ensembl	human	known	74_37	missense	18.37	40	9	SNP	1.000	C	C	171560972	G	C	171560972	3	2	166	1	0	0	0	0	1	0	0	0	1322	943	33	5	8462	5	BAT2L2	1	171560972	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	9216799	171560972	77689649	14	41782											
SLC9A11	284525	genome.wustl.edu	37	chr1	173504975	173504975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaatacttactcaggtGgaataaaatgtatcttttct	13	16	5	7	0	4	0	2	0	2	0	4	1	4	1	0	2	2	1	0	2	7	7			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:173504975G>T	ENST00000367714.3	-	15	2191	c.1769C>A	c.(1768-1770)cCa>cAa	p.P590Q	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	590					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTACTCAGGTGGAATAAAATG	0.259																																																	0													36	42	40					1																	173504975		2156	4223	6379	SO:0001583	missense	0			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.1769C>A	1.37:g.173504975G>T	ENSP00000356687:p.Pro590Gln		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.P590Q	ENST00000367714.3	37	c.1769	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491257	0.44249	.	.	ENSG00000162753	ENST00000367714	T	0.05081	3.5	5.81	-2.14	0.07123	.	0.776613	0.10934	N	0.618043	T	0.02571	0.0078	L	0.42245	1.32	0.09310	N	1	P	0.49961	0.93	P	0.44732	0.459	T	0.39820	-0.9595	10	0.30078	T	0.28	1.9265	12.5711	0.56337	0.2806:0.0:0.7194:0.0	.	590	Q5TAH2	S9A11_HUMAN	Q	590	ENSP00000356687:P590Q	ENSP00000356687:P590Q	P	-	2	0	SLC9A11	171771598	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.039000	0.12124	-0.327000	0.08551	-0.331000	0.08364	CCA	SLC9C2	-	NULL	ENSG00000162753		0.259	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	-	0	112	0	G	NM_178527		173504975	-1	tier1	-	no_errors	ENST00000367714	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.000	T	T	173504975	G	T	173504975	3	4	166	1	0	0	0	0	1	0	0	0	14756	1348	47	3	1661	3	SLC9A11	1	173504975	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	1944003	173504975	75745646	15	41783											
RALGPS2	55103	genome.wustl.edu	37	chr1	178790786	178790786	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	accttcatgcacttatggcaGtggtttctggcctacagagt	8	13	10	10	0	2	1	1	0	1	1	2	1	2	1	2	3	2	3	2	3	2	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:178790786G>A	ENST00000367635.3	+	7	765	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	RALGPS2_ENST00000367634.2_Missense_Mutation_p.V143M	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	143	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ACTTATGGCAGTGGTTTCTGG	0.383																																																	0													114	118	117					1																	178790786		2203	4300	6503	SO:0001583	missense	0			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.427G>A	1.37:g.178790786G>A	ENSP00000356607:p.Val143Met		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.V143M	ENST00000367635.3	37	c.427	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674555	0.88445	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.38077	1.16;1.16;1.16	5.27	5.27	0.74061	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	M	0.87381	2.88	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70487	0.969;0.958	T	0.71807	-0.4481	10	0.62326	D	0.03	.	18.9166	0.92508	0.0:0.0:1.0:0.0	.	143;143	B7Z7B1;Q86X27	.;RGPS2_HUMAN	M	143;143;108	ENSP00000356607:V143M;ENSP00000356606:V143M;ENSP00000313613:V108M	ENSP00000313613:V108M	V	+	1	0	RALGPS2	177057409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.078000	0.94023	2.626000	0.88956	0.650000	0.86243	GTG	RALGPS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000116191		0.383	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2		0	46	0	G	NM_152663		178790786	1			no_errors	ENST00000367635	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A	A	178790786	G	A	178790786	3	1	166	1	0	0	0	0	1	0	0	0	13063	1029	36	3	449	3	RALGPS2	1	178790786	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	5285811	178790786	70459835	16	41784											
KCNT2	343450	genome.wustl.edu	37	chr1	196436841	196436841	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctatacttacaatcatatTttccaaggcatgtttggcaa	12	16	5	8	0	2	0	1	0	1	0	3	0	3	0	1	2	2	3	1	2	7	8			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:196436841T>G	ENST00000294725.9	-	7	1450	c.535A>C	c.(535-537)Aat>Cat	p.N179H	KCNT2_ENST00000367433.5_Missense_Mutation_p.N179H|KCNT2_ENST00000498426.1_5'Flank|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.N179H|KCNT2_ENST00000367431.4_Missense_Mutation_p.N179H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	179					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						ACAATCATATTTTCCAAGGCA	0.308																																																	0													43	45	44					1																	196436841		2202	4294	6496	SO:0001583	missense	0			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.535A>C	1.37:g.196436841T>G	ENSP00000294725:p.Asn179His		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.N179H	ENST00000294725.9	37	c.535	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004118	0.74932	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.21543	2.0;2.0;2.0	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000006	T	0.44030	0.1274	M	0.71581	2.175	0.80722	D	1	P;D;B;P	0.63880	0.932;0.993;0.35;0.932	P;D;B;P	0.71870	0.827;0.975;0.236;0.827	T	0.32666	-0.9898	10	0.45353	T	0.12	-27.1943	13.7845	0.63102	0.0:0.0:0.0:1.0	.	179;179;179;179	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	179	ENSP00000356403:N179H;ENSP00000356401:N179H;ENSP00000294725:N179H	ENSP00000294725:N179H	N	-	1	0	KCNT2	194703464	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.966000	0.76073	2.097000	0.63578	0.482000	0.46254	AAT	KCNT2	-	NULL	ENSG00000162687		0.308	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0	113	0	T	NM_198503		196436841	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	24.14	44	14	SNP	1.000	G	G	196436841	T	G	196436841	3	3	166	1	0	0	0	0	1	0	0	0	8119	1841	64	4	2960	4	KCNT2	1	196436841	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	17646055	196436841	52813780	17	41785											
KIF14	9928	genome.wustl.edu	37	chr1	200572411	200572411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctttggtttgcttgttccGaaagtgcagatataactttt	8	18	8	7	1	0	1	0	0	0	1	2	2	2	1	2	1	3	4	2	1	3	8	rs142004534		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:200572411G>A	ENST00000367350.4	-	10	2360	c.1922C>T	c.(1921-1923)tCg>tTg	p.S641L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	641	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.S641L(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGCTTGTTCCGAAAGTGCAGA	0.303																																																	1	Substitution - Missense(1)	lung(1)						G	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	97	100	99		1922	5.6	0.2	1	dbSNP_134	99	1,8595	1.2+/-3.3	0,1,4297	no	missense	KIF14	NM_014875.2	145	0,3,6498	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	641/1649	200572411	3,12999	2203	4298	6501	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1922C>T	1.37:g.200572411G>A	ENSP00000356319:p.Ser641Leu		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S641L	ENST00000367350.4	37	c.1922	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.142914	0.94560	4.54E-4	1.16E-4	ENSG00000118193	ENST00000367350	T	0.75589	-0.95	5.56	5.56	0.83823	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.86961	0.6059	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88033	0.2776	10	0.87932	D	0	.	19.5216	0.95187	0.0:0.0:1.0:0.0	.	641	Q15058	KIF14_HUMAN	L	641	ENSP00000356319:S641L	ENSP00000356319:S641L	S	-	2	0	KIF14	198839034	1.000000	0.71417	0.176000	0.23000	0.976000	0.68499	9.444000	0.97578	2.602000	0.87976	0.591000	0.81541	TCG	KIF14	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000118193		0.303	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1		0	75	0	G	NM_014875		200572411	-1			no_errors	ENST00000367350	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.998	A	A	200572411	G	A	200572411	3	1	166	1	0	0	0	0	1	0	0	0	8303	1059	37	1	3108	1	KIF14	1	200572411	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	4135570	200572411	48678210	18	41786											
NAV1	89796	genome.wustl.edu	37	chr1	201762966	201762966	+	Frame_Shift_Del	DEL	C	C	-																															gagcctggtgaatatgacatCccgcctgcgacacctggcag																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:201762966delC	ENST00000367296.4	+	14	3788	c.3368delC	c.(3367-3369)tccfs	p.S1123fs	NAV1_ENST00000367302.1_Frame_Shift_Del_p.S1079fs|NAV1_ENST00000367295.1_Frame_Shift_Del_p.S732fs|NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Frame_Shift_Del_p.S1066fs|NAV1_ENST00000367297.4_Frame_Shift_Del_p.S1115fs|NAV1_ENST00000295624.6_Frame_Shift_Del_p.S1123fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1123					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						AATATGACATCCCGCCTGCGA	0.577																																																	0													75	69	71					1																	201762966		2203	4300	6503	SO:0001589	frameshift_variant	0			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.3368delC	1.37:g.201762966delC	ENSP00000356265:p.Ser1123fs		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1124fs	ENST00000367296.4	37	c.3368	CCDS1414.2	1																																																																																			NAV1	-	NULL	ENSG00000134369		0.577	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1		0	33	0	C	NM_020443		201762966	1	tier1		no_errors	ENST00000367296	ensembl	human	known	74_37	frame_shift_del	20.00	12	3	DEL	0.824	-	-	201762966	C	-	201762966	7	5	166	1	0	1	0	1	0	0	0	0	10221	855	30	0	3479	0	NAV1	1	201762966	Frame_Shift_Del	DEL	C	TCGA-VR-A8EU-01A-11D-A36J-09	1190555	201762966	47487655	19	41787											
IKBKE	9641	genome.wustl.edu	37	chr1	206667323	206667323	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaacaaccgcatcatcgaaCggtaaggagctttcaccttg	13	8	8	12	3	2	0	2	0	0	0	3	2	2	1	2	2	4	3	2	2	4	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:206667323C>T	ENST00000367120.3	+	21	2489	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W	IKBKE_ENST00000537984.1_Splice_Site_p.R621W|C1orf147_ENST00000367119.1_Intron	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	706					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)					CATCATCGAACGGTAAGGAGC	0.592																																																	0													110	88	96					1																	206667323		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2117+1C>T	1.37:g.206667323C>T			D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R706W	ENST00000367120.3	37	c.2116	CCDS30996.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344971	0.41498	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.69175	-0.38;-0.25	5.31	0.906	0.19314	.	0.421699	0.25598	N	0.029567	T	0.56529	0.1991	L	0.40543	1.245	0.80722	D	1	D	0.61697	0.99	P	0.46885	0.53	T	0.55464	-0.8137	10	0.87932	D	0	0.2992	6.4495	0.21896	0.5136:0.3149:0.1715:0.0	.	706	Q14164	IKKE_HUMAN	W	706;621	ENSP00000356087:R706W;ENSP00000444529:R621W	ENSP00000356087:R706W	R	+	1	2	IKBKE	204733946	0.985000	0.35326	0.870000	0.34147	0.085000	0.17905	0.513000	0.22770	0.251000	0.21505	0.561000	0.74099	CGG	IKBKE	-	NULL	ENSG00000143466		0.592	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	-	0	68	0	C		Missense_Mutation	206667323	1	tier1	-	no_errors	ENST00000367120	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.954	T	T	206667323	C	T	206667323	5	4	166	1	0	0	0	0	0	0	1	0	7639	550	19	1	2190	1	IKBKE	1	206667323	Splice_Site	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	4904357	206667323	42583298	20	41788											
INTS7	25896	genome.wustl.edu	37	chr1	212120048	212120048	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagaggcatgctgtgtgCtgggggaaaaaagaaactaa	14	8	14	5	0	0	2	0	0	0	2	0	3	0	3	0	3	4	4	0	3	5	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:212120048C>T	ENST00000366994.3	-	18	2421		c.e18-1		INTS7_ENST00000469606.1_Splice_Site|INTS7_ENST00000440600.2_Splice_Site|INTS7_ENST00000366992.3_Intron|INTS7_ENST00000366993.3_Splice_Site	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7						cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATGCTGTGTGCTGGGGGAAAA	0.348																																																	0													48	50	50					1																	212120048		2203	4300	6503	SO:0001630	splice_region_variant	0			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2317-1G>A	1.37:g.212120048C>T			B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Splice_Site	SNP	-	e17-1	ENST00000366994.3	37	c.2170-1	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216601	0.79352	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000440600	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9694	0.97278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS7	210186671	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.201000	0.77847	2.719000	0.93026	0.655000	0.94253	.	INTS7	-	-	ENSG00000143493		0.348	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	-	0	92	0	C	NM_015434	Intron	212120048	-1	tier1	-	no_errors	ENST00000440600	ensembl	human	known	74_37	splice_site	6.90	54	4	SNP	1.000	T	T	212120048	C	T	212120048	5	4	166	1	0	0	0	0	0	0	1	0	7810	811	28	3	584	3	INTS7	1	212120048	Splice_Site	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	5452725	212120048	37130573	21	41789											
DISP1	84976	genome.wustl.edu	37	chr1	223116621	223116621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctgcctgcatcatccGtggcctgaccattttcagca	6	13	7	15	1	3	1	2	1	1	0	5	1	5	1	5	1	3	2	5	1	0	3	rs371368815	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:223116621G>A	ENST00000284476.6	+	2	620	c.456G>A	c.(454-456)ccG>ccA	p.P152P	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Silent_p.P152P	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	152					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)		TGCATCATCCGTGGCCTGACC	0.468													G|||	4	0.000798722	0	0	5008	,	,		24780	0		0	False		,,,				2504	0.0041																0								G		0,4406		0,0,2203	139	105	117		456	0.3	0.8	1		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DISP1	NM_032890.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		152/1525	223116621	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.456G>A	1.37:g.223116621G>A			Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	NULL	p.P152	ENST00000284476.6	37	c.456	CCDS1536.1	1																																																																																			DISP1	-	NULL	ENSG00000154309		0.468	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1		0	36	0	G	NM_032890		223116621	1			no_errors	ENST00000360254	ensembl	human	putative	74_37	silent	10.00	18	2	SNP	0.978	A	A	223116621	G	A	223116621	2	1	166	1	0	0	0	0	0	0	0	1	4553	1132	40	1		1	DISP1	1	223116621	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	10996573	223116621	26134000	22	41790											
OR2G2	81470	genome.wustl.edu	37	chr1	247752160	247752160	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacagtccaccctcaccCtgcagctgcccttctgtggg	5	10	10	16	0	2	0	1	0	1	0	3	0	3	0	4	2	4	3	4	2	1	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:247752160C>T	ENST00000320065.1	+	1	499	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	167			L -> P (in dbSNP:rs10925085).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACCCTCACCCTGCAGCTGCC	0.547																																																	0													189	173	178					1																	247752160		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.499C>T	1.37:g.247752160C>T			Q5JQT2|Q6IEZ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L167	ENST00000320065.1	37	c.499	CCDS31092.1	1																																																																																			OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177489		0.547	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	-	0	44	0	C			247752160	1	tier1	-	no_errors	ENST00000320065	ensembl	human	known	74_37	silent	35.48	20	11	SNP	0.392	T	T	247752160	C	T	247752160	2	4	166	1	0	0	0	0	0	0	0	1	11037	680	24	3		3	OR2G2	1	247752160	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	24635539	247752160	1498461	23	41791											
DDX1	1653	genome.wustl.edu	37	chr2	15757366	15757366	+	Splice_Site	SNP	A	A	G	1	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	tggttggtttgctttttttcAggtagatatagttgtaggta	7	20	12	2	0	1	1	1	0	0	1	1	1	1	1	0	4	1	7	0	4	5	11			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:15757366A>G	ENST00000381341.2	+	16	1406		c.e16-1		DDX1_ENST00000233084.3_Splice_Site			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1						ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.?(3)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GCTTTTTTTCAGGTAGATATA	0.343																																																	3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)											156	156	156					2																	15757366		2203	4300	6503	SO:0001630	splice_region_variant	0			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1018-1A>G	2.37:g.15757366A>G			B4DME8|B4DPN6	Splice_Site	SNP	-	e15-2	ENST00000381341.2	37	c.1018-2	CCDS1686.1	2	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193050	0.58017	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	.	.	.	5.78	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1281	0.59366	0.8663:0.1337:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX1	15674817	1.000000	0.71417	0.961000	0.40146	0.824000	0.46624	9.019000	0.93662	1.001000	0.39076	0.482000	0.46254	.	DDX1	-	-	ENSG00000079785		0.343	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	HGNC	protein_coding	OTTHUMT00000207141.2		0	81	0	A	NM_004939	Intron	15757366	1			no_errors	ENST00000233084	ensembl	human	known	74_37	splice_site	5.00	38	2	SNP	1.000	G	G	15757366	A	G	15757366	5	3	166	1	0	0	0	0	0	0	1	0	4350	202	7	4	1074	4	DDX1	2	15757366	Splice_Site	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09		15757366	227442007	24	41792											
SUPT7L	9913	genome.wustl.edu	37	chr2	27880464	27880464	+	Silent	SNP	T	T	A	0	1	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	aagcccgcgtgggccaggatTgtggccactgcctggtagag	7	7	16	11	2	0	1	0	0	0	1	0	2	0	2	4	4	2	1	4	4	2	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:27880464T>A	ENST00000337768.5	-	4	1061	c.492A>T	c.(490-492)acA>acT	p.T164T	SUPT7L_ENST00000464789.2_Silent_p.T162T|SUPT7L_ENST00000406540.1_Silent_p.T162T|SUPT7L_ENST00000405491.1_Silent_p.T162T|SUPT7L_ENST00000404798.2_Silent_p.T29T	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	164					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GGGCCAGGATTGTGGCCACTG	0.532																																																	0													41	43	42					2																	27880464		2000	4162	6162	SO:0001819	synonymous_variant	0			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.492A>T	2.37:g.27880464T>A			B4E3W3|Q6IB21|Q9H2T6	Silent	SNP	pfam_BTP,smart_BTP	p.T164	ENST00000337768.5	37	c.492	CCDS42667.1	2																																																																																			SUPT7L	-	pfam_BTP,smart_BTP	ENSG00000119760		0.532	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT7L	HGNC	protein_coding	OTTHUMT00000324568.1	-	0	44	0	T	NM_014860		27880464	-1	tier1	-	no_errors	ENST00000337768	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.875	A	A	27880464	T	A	27880464	2	1	166	1	0	0	0	0	0	0	0	1	15448	1799	63	5		5	SUPT7L	2	27880464	Silent	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	12123098	27880464	215318909	25	41793											
EHBP1	23301	genome.wustl.edu	37	chr2	63176138	63176138	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatccagaatctcctatcaaAaaaacaagtttatctcctac	16	11	3	11	0	3	1	1	0	2	1	6	2	4	1	3	0	2	1	3	0	8	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:63176138A>C	ENST00000263991.5	+	14	2744	c.2262A>C	c.(2260-2262)aaA>aaC	p.K754N	EHBP1_ENST00000354487.3_Missense_Mutation_p.K719N|EHBP1_ENST00000405015.3_Missense_Mutation_p.K719N|EHBP1_ENST00000405289.1_Missense_Mutation_p.K719N|EHBP1_ENST00000431489.1_Missense_Mutation_p.K719N	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	754						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)			CTCCTATCAAAAAAACAAGTT	0.373																																																	0													41	45	44					2																	63176138		2202	4299	6501	SO:0001583	missense	0			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.2262A>C	2.37:g.63176138A>C	ENSP00000263991:p.Lys754Asn		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.K754N	ENST00000263991.5	37	c.2262	CCDS1872.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.25|10.25	1.299413|1.299413	0.23650|0.23650	.|.	.|.	ENSG00000115504|ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289|ENST00000454124	T;T;T;T;T|T	0.73789|0.45668	-0.78;-0.78;-0.78;-0.78;-0.78|0.89	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.550760|0.550760	0.20194|0.20194	N|N	0.097244|0.097244	T|T	0.45316|0.45316	0.1336|0.1336	L|L	0.46157|0.46157	1.445|1.445	0.27291|0.27291	N|N	0.957838|0.957838	B;B;B|.	0.26258|.	0.0;0.145;0.0|.	B;B;B|.	0.21151|.	0.004;0.033;0.002|.	T|T	0.44081|0.44081	-0.9351|-0.9351	10|8	0.24483|0.39692	T|T	0.36|0.17	.|.	12.193|12.193	0.54282|0.54282	0.9319:0.0:0.068:0.0|0.9319:0.0:0.068:0.0	.|.	719;719;754|.	Q8NDI1-2;Q8NDI1-3;Q8NDI1|.	.;.;EHBP1_HUMAN|.	N|T	719;719;754;719;719|24	ENSP00000384143:K719N;ENSP00000403783:K719N;ENSP00000263991:K754N;ENSP00000346482:K719N;ENSP00000385524:K719N|ENSP00000396186:K24T	ENSP00000263991:K754N|ENSP00000396186:K24T	K|K	+|+	3|2	2|0	EHBP1|EHBP1	63029642|63029642	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.404000|0.404000	0.30871|0.30871	1.875000|1.875000	0.39578|0.39578	2.261000|2.261000	0.74972|0.74972	0.533000|0.533000	0.62120|0.62120	AAA|AAA	EHBP1	-	NULL	ENSG00000115504		0.373	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1	-	0	45	0	A	NM_015252		63176138	1	tier1	-	no_errors	ENST00000263991	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.942	C	C	63176138	A	C	63176138	3	2	166	1	0	0	0	0	1	0	0	0	4989	11	1	4	2312	4	EHBP1	2	63176138	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	35295674	63176138	180023235	26	41794											
SNRNP200	23020	genome.wustl.edu	37	chr2	96944361	96944361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacgtccatctcgtcctcGatgctgatgcacttggactg	6	11	10	14	3	1	1	0	1	1	0	5	3	3	2	3	1	2	2	3	1	0	1	rs142524062		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:96944361G>A	ENST00000323853.5	-	38	5489	c.5412C>T	c.(5410-5412)atC>atT	p.I1804I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1804					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)	p.I1804I(1)		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						TCTCGTCCTCGATGCTGATGC	0.582																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		0,4406		0,0,2203	105	96	99		5412	-8.4	0.7	2	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SNRNP200	NM_014014.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1804/2137	96944361	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.5412C>T	2.37:g.96944361G>A			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I1804	ENST00000323853.5	37	c.5412	CCDS2020.1	2																																																																																			SNRNP200	-	NULL	ENSG00000144028		0.582	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2		0	30	0	G	NM_014014		96944361	-1			no_errors	ENST00000323853	ensembl	human	known	74_37	silent	14.29	12	2	SNP	0.052	A	A	96944361	G	A	96944361	2	1	166	1	0	0	0	0	0	0	0	1	14897	1048	37	1		1	SNRNP200	2	96944361	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	33768223	96944361	146255012	27	41795											
GPR39	2863	genome.wustl.edu	37	chr2	133174826	133174826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaaggaggtgacagacCacatggtgagtttggcttgc	10	9	15	7	0	0	4	0	2	0	2	0	5	0	5	1	4	2	3	1	4	1	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:133174826C>A	ENST00000329321.3	+	1	680	c.211C>A	c.(211-213)Cac>Aac	p.H71N		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	71					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						GGTGACAGACCACATGGTGAG	0.547																																																	0													241	216	224					2																	133174826		2203	4300	6503	SO:0001583	missense	0			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.211C>A	2.37:g.133174826C>A	ENSP00000327417:p.His71Asn		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.H71N	ENST00000329321.3	37	c.211	CCDS2170.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158819	0.78226	.	.	ENSG00000183840	ENST00000329321	T	0.72051	-0.62	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	M	0.77103	2.36	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.86269	0.1660	10	0.87932	D	0	.	19.304	0.94153	0.0:1.0:0.0:0.0	.	71	O43194	GPR39_HUMAN	N	71	ENSP00000327417:H71N	ENSP00000327417:H71N	H	+	1	0	GPR39	132891296	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	7.631000	0.83237	2.803000	0.96430	0.549000	0.68633	CAC	GPR39	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183840		0.547	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	HGNC	protein_coding	OTTHUMT00000254582.1	-	0	82	0	C			133174826	1	tier1	-	no_errors	ENST00000329321	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	A	A	133174826	C	A	133174826	3	1	166	1	0	0	0	0	1	0	0	0	6719	594	21	3	213	3	GPR39	2	133174826	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	36230465	133174826	110024547	28	41796											
GALNT13	114805	genome.wustl.edu	37	chr2	155295110	155295110	+	Missense_Mutation	SNP	T	T	A	0	1	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	atttatattttcaggtatttTcttacactgctgacaaagaa	13	17	5	6	0	2	2	1	1	1	1	2	2	2	2	0	1	2	2	0	1	6	9			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:155295110T>A	ENST00000392825.3	+	12	1969	c.1402T>A	c.(1402-1404)Tct>Act	p.S468T	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.S468T|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	468	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)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCAGGTATTTTCTTACACTGC	0.348																																																	0													84	85	85					2																	155295110		2203	4299	6502	SO:0001583	missense	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1402T>A	2.37:g.155295110T>A	ENSP00000376570:p.Ser468Thr		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S468T	ENST00000392825.3	37	c.1402	CCDS2199.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.35|18.35	3.605435|3.605435	0.66445|0.66445	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000450838|ENST00000392825;ENST00000409237;ENST00000453715	T|T;T;T	0.35236|0.26223	1.32|1.75;1.75;1.75	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Ricin B-related lectin (1);Ricin B lectin (3);	.|0.170990	.|0.53938	.|D	.|0.000056	T|T	0.14743|0.14743	0.0356|0.0356	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24258	.|0.1;0.039	.|B;B	.|0.25405	.|0.06;0.034	T|T	0.12344|0.12344	-1.0551|-1.0551	7|10	0.54805|0.12103	T|T	0.06|0.63	.|.	13.6419|13.6419	0.62255|0.62255	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|468;468	.|Q08ER7;Q8IUC8	.|.;GLT13_HUMAN	Y|T	53|468;468;3	ENSP00000406237:F53Y|ENSP00000376570:S468T;ENSP00000387239:S468T;ENSP00000396612:S3T	ENSP00000406237:F53Y|ENSP00000376570:S468T	F|S	+|+	2|1	0|0	GALNT13|GALNT13	155003356|155003356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.890000|7.890000	0.87313|0.87313	2.110000|2.110000	0.64415|0.64415	0.533000|0.533000	0.62120|0.62120	TTC|TCT	GALNT13	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000144278		0.348	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2		0	61	0	T	NM_052917		155295110	1			no_errors	ENST00000409237	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	155295110	T	A	155295110	3	1	166	1	0	0	0	0	1	0	0	0	6236	1783	62	5	1440	5	GALNT13	2	155295110	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	22120284	155295110	87904263	29	41797											
CYTIP	9595	genome.wustl.edu	37	chr2	158272436	158272436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactcatcatctgtactcGtctgccgactgaaggcaccc	9	9	8	15	2	4	1	2	1	2	0	5	2	4	1	2	1	3	3	2	1	2	1	rs367635230		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:158272436G>A	ENST00000264192.3	-	8	954	c.833C>T	c.(832-834)aCg>aTg	p.T278M	CYTIP_ENST00000540637.1_Missense_Mutation_p.T172M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	278	Ser-rich.			T -> Q (in Ref. 6; AAA16575). {ECO:0000305}.	regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATCTGTACTCGTCTGCCGACT	0.542																																																	0													98	91	93					2																	158272436		2203	4300	6503	SO:0001583	missense	0			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.833C>T	2.37:g.158272436G>A	ENSP00000264192:p.Thr278Met		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T278M	ENST00000264192.3	37	c.833	CCDS2204.1	2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896619	0.91962	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.46451	2.17;0.87	5.96	5.96	0.96718	.	0.307228	0.35067	N	0.003468	T	0.57917	0.2086	M	0.63428	1.95	0.36972	D	0.89387	D	0.89917	1.0	P	0.54706	0.759	T	0.61840	-0.6980	10	0.52906	T	0.07	-7.0724	19.9958	0.97383	0.0:0.0:1.0:0.0	.	278	O60759	CYTIP_HUMAN	M	278;172	ENSP00000264192:T278M;ENSP00000440801:T172M	ENSP00000264192:T278M	T	-	2	0	CYTIP	157980682	0.998000	0.40836	0.994000	0.49952	0.945000	0.59286	4.193000	0.58385	2.826000	0.97356	0.655000	0.94253	ACG	CYTIP	-	NULL	ENSG00000115165		0.542	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTIP	HGNC	protein_coding	OTTHUMT00000254926.1	-	0	30	0	G	NM_004288		158272436	-1	tier1	-	no_errors	ENST00000264192	ensembl	human	known	74_37	missense	46.67	8	7	SNP	0.998	A	A	158272436	G	A	158272436	3	1	166	1	0	0	0	0	1	0	0	0	4216	1145	40	1	250	1	CYTIP	2	158272436	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	2977326	158272436	84926937	30	41798											
PPIG	9360	genome.wustl.edu	37	chr2	170487452	170487452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacatcggaaaaattcccGaaaacacaagaaagaaaaga	24	3	7	7	2	0	3	0	0	0	3	2	6	1	4	1	1	2	0	1	1	9	1	rs200547187		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:170487452G>T	ENST00000260970.3	+	10	936	c.716G>T	c.(715-717)cGa>cTa	p.R239L	PPIG_ENST00000448752.2_Missense_Mutation_p.R239L|PPIG_ENST00000462903.1_Missense_Mutation_p.R239L|PPIG_ENST00000409714.3_Missense_Mutation_p.R224L|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	239	Arg/Lys-rich (basic).				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)	p.R239Q(1)		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)	AAAAATTCCCGAAAACACAAG	0.333																																																	1	Substitution - Missense(1)	large_intestine(1)											29	33	31					2																	170487452		2153	4174	6327	SO:0001583	missense	0			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.716G>T	2.37:g.170487452G>T	ENSP00000260970:p.Arg239Leu		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R239L	ENST00000260970.3	37	c.716	CCDS2235.1	2	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539664	0.65085	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000414307	T;T;T;T;T;T	0.29397	2.21;1.77;2.2;1.57;2.21;1.89	5.74	5.74	0.90152	.	0.746276	0.11691	N	0.538939	T	0.17916	0.0430	N	0.19112	0.55	0.39277	D	0.96448	P;B;B;B;B	0.44090	0.826;0.451;0.451;0.3;0.451	B;B;B;B;B	0.37346	0.247;0.127;0.097;0.099;0.097	T	0.02539	-1.1144	10	0.22109	T	0.4	0.117	7.8993	0.29725	0.1941:0.0:0.8059:0.0	.	235;224;224;239;239	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	L	239;239;235;224;239;239;239	ENSP00000260970:R239L;ENSP00000408683:R235L;ENSP00000386245:R224L;ENSP00000435987:R239L;ENSP00000407083:R239L;ENSP00000402222:R239L	ENSP00000260970:R239L	R	+	2	0	PPIG	170195698	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.228000	0.42981	2.683000	0.91414	0.655000	0.94253	CGA	PPIG	-	NULL	ENSG00000138398		0.333	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIG	HGNC	protein_coding	OTTHUMT00000255264.2		0	107	0	G			170487452	1			no_errors	ENST00000260970	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	170487452	G	T	170487452	3	4	166	1	0	0	0	0	1	0	0	0	12366	1058	37	2	746	2	PPIG	2	170487452	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	12215016	170487452	72711921	31	41799											
TTN	7273	genome.wustl.edu	37	chr2	179408974	179408974	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaattgattcgctgtattcGctcatacccttcacgttcac	8	14	6	13	3	3	1	3	1	0	0	5	1	3	1	1	0	1	5	1	0	3	7			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:179408974G>A	ENST00000591111.1	-	295	91283	c.91059C>T	c.(91057-91059)agC>agT	p.S30353S	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.S31994S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.S29426S|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S23121S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.S23054S|TTN_ENST00000460472.2_Silent_p.S22929S|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30353	Fibronectin type-III 121. {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)			CGCTGTATTCGCTCATACCCT	0.413																																																	0													88	84	85					2																	179408974		1884	4115	5999	SO:0001819	synonymous_variant	0			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.91059C>T	2.37:g.179408974G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S29426	ENST00000591111.1	37	c.88278		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	60	0	G	NM_133378		179408974	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	10.00	27	3	SNP	0.997	A	A	179408974	G	A	179408974	2	1	166	1	0	0	0	0	0	0	0	1	16784	1078	38	1		1	TTN	2	179408974	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	8921522	179408974	63790399	32	41800											
TTN	7273	genome.wustl.edu	37	chr2	179460409	179460409	+	Silent	SNP	A	A	G	1	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	catgctctgcggtcagattcAcgcttttcaatgacataatt	10	14	7	10	2	4	2	3	1	1	1	4	2	4	2	0	1	2	2	0	1	2	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:179460409A>G	ENST00000591111.1	-	245	52973	c.52749T>C	c.(52747-52749)cgT>cgC	p.R17583R	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.R19224R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.R16656R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.R10351R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.R10284R|TTN_ENST00000460472.2_Silent_p.R10159R			Q8WZ42	TITIN_HUMAN	titin	17583	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)			GGTCAGATTCACGCTTTTCAA	0.453																																																	0													84	77	79					2																	179460409		1919	4135	6054	SO:0001819	synonymous_variant	0			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.52749T>C	2.37:g.179460409A>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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R16656	ENST00000591111.1	37	c.49968		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	92	0	A	NM_133378		179460409	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.353	G	G	179460409	A	G	179460409	2	3	166	1	0	0	0	0	0	0	0	1	16784	146	6	4		4	TTN	2	179460409	Silent	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	51435	179460409	63738964	33	41801											
COL3A1	1281	genome.wustl.edu	37	chr2	189854839	189854839	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggagaatcaggtagaccCggacgacctggagagcgagg	12	4	17	8	3	1	3	1	0	0	3	1	8	1	4	2	5	1	1	2	5	3	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:189854839C>T	ENST00000304636.3	+	9	878	c.708C>T	c.(706-708)ccC>ccT	p.P236P	COL3A1_ENST00000317840.5_Silent_p.P236P	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	236	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)	CAGGTAGACCCGGACGACCTG	0.388																																																	0													70	73	72					2																	189854839		2203	4300	6503	SO:0001819	synonymous_variant	0			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.708C>T	2.37:g.189854839C>T			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P236	ENST00000304636.3	37	c.708	CCDS2297.1	2																																																																																			COL3A1	-	NULL	ENSG00000168542		0.388	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3		0	70	0	C	NM_000090		189854839	1			no_errors	ENST00000304636	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.000	T	T	189854839	C	T	189854839	2	4	166	1	0	0	0	0	0	0	0	1	3695	639	23	1		1	COL3A1	2	189854839	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	10394430	189854839	53344534	34	41802											
DNAH7	56171	genome.wustl.edu	37	chr2	196726445	196726445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaatttgatttttaccttcTtttcttttctaacaacagtt	10	21	3	7	0	3	1	0	1	3	0	3	2	3	1	1	0	3	1	1	0	4	11			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:196726445T>C	ENST00000312428.6	-	42	7832	c.7732A>G	c.(7732-7734)Aga>Gga	p.R2578G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2578	Stalk. {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						TTTTACCTTCTTTTCTTTTCT	0.294																																																	0													41	39	40					2																	196726445		1798	4056	5854	SO:0001583	missense	0			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.7732A>G	2.37:g.196726445T>C	ENSP00000311273:p.Arg2578Gly		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R2578G	ENST00000312428.6	37	c.7732	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057503	0.36277	.	.	ENSG00000118997	ENST00000312428	T	0.39997	1.05	4.81	4.81	0.61882	.	0.062767	0.64402	D	0.000010	T	0.67335	0.2882	M	0.93763	3.455	0.80722	D	1	D	0.58620	0.983	D	0.65773	0.938	T	0.72988	-0.4124	10	0.66056	D	0.02	.	6.761	0.23540	0.1491:0.0:0.1546:0.6963	.	2578	Q8WXX0	DYH7_HUMAN	G	2578	ENSP00000311273:R2578G	ENSP00000311273:R2578G	R	-	1	2	DNAH7	196434690	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	1.380000	0.34351	2.012000	0.59069	0.455000	0.32223	AGA	DNAH7	-	superfamily_P-loop_NTPase	ENSG00000118997		0.294	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0	28	0	T	NM_018897		196726445	-1			no_errors	ENST00000312428	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	C	C	196726445	T	C	196726445	3	2	166	1	0	0	0	0	1	0	0	0	4620	1617	56	4	4438	4	DNAH7	2	196726445	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	6871606	196726445	46472928	35	41803											
NBEAL1	65065	genome.wustl.edu	37	chr2	203975005	203975006	+	Splice_Site	DNP	GG	GG	CA																															agtttctgtgattccctctgGgtaaggctttagggcatcac																								rs568361667		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:203975005_203975006GG>CA	ENST00000449802.1	+	14	2328	c.1995_1995GG>CA	c.(1993-1995)tgGG>tgCAg	p.W665C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	665										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						ATTCCCTCTGGGTAAGGCTTTA	0.386																																																	0																																										SO:0001630	splice_region_variant	0			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	Exception_encountered	2.37:g.203975005_203975006delinsCA			A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation|Splice_Site	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom|-	p.W665C|e13+1	ENST00000449802.1	37	c.1995|c.1995+1	CCDS46495.1	2																																																																																			NBEAL1	-	superfamily_ConA-like_lec_gl_sf|-	ENSG00000144426		0.386	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4		0	47|46	0	G		Missense_Mutation	203975005|203975006	1			no_errors	ENST00000449802	ensembl	human	known	74_37	missense|splice_site	11.11|10.87	40|41	5	SNP	1.000	C|A	CA	203975006	GG	CA	203975005	5	2	166	1	0	0	0	0	0	0	1	0	10226	1246	43	5	2045	5	NBEAL1	2	203975005	Splice_Site	DNP	GG	TCGA-VR-A8EU-01A-11D-A36J-09	7248560	203975005	39224368	36	41804											
DOCK10	55619	genome.wustl.edu	37	chr2	225662559	225662559	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatccttaccttgcatacaAacagtctcaaggaggcaaac	15	8	7	11	0	1	1	1	0	1	1	3	2	2	2	2	2	5	2	2	2	5	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:225662559A>T	ENST00000258390.7	-	42	4701	c.4634T>A	c.(4633-4635)tTt>tAt	p.F1545Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.F1539Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1545					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)		CTTGCATACAAACAGTCTCAA	0.408																																																	0													185	179	181					2																	225662559		1936	4140	6076	SO:0001583	missense	0			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.4634T>A	2.37:g.225662559A>T	ENSP00000258390:p.Phe1545Tyr		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F1545Y	ENST00000258390.7	37	c.4634	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802006	0.90538	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.71698	-0.59;-0.59	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.83046	0.5169	M	0.74647	2.275	0.47374	D	0.999406	P;P;P;D	0.69078	0.872;0.709;0.869;0.997	P;B;P;D	0.66196	0.512;0.259;0.722;0.942	D	0.85142	0.0981	10	0.72032	D	0.01	.	16.0499	0.80749	1.0:0.0:0.0:0.0	.	1545;399;1539;207	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	Y	1539;1545;83	ENSP00000386694:F1539Y;ENSP00000258390:F1545Y	ENSP00000258390:F1545Y	F	-	2	0	DOCK10	225370803	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.730000	0.91510	2.193000	0.70182	0.533000	0.62120	TTT	DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.408	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	-	0	81	0	A			225662559	-1	tier1	-	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T	T	225662559	A	T	225662559	3	4	166	1	0	0	0	0	1	0	0	0	4699	14	1	5	1986	5	DOCK10	2	225662559	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	21687554	225662559	17536814	37	41805											
CCL20	6364	genome.wustl.edu	37	chr2	228681084	228681084	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagacttgggtgaaatatAttgtgcgtctcctcaggtat	11	13	10	7	1	2	2	1	1	1	1	3	2	2	2	1	2	2	1	1	2	5	5	rs368201222		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:228681084A>G	ENST00000358813.4	+	3	311	c.253A>G	c.(253-255)Att>Gtt	p.I85V	CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000409189.3_Missense_Mutation_p.I84V			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	85					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GGTGAAATATATTGTGCGTCT	0.398																																																	0								A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	100	98	98		250,253	2.2	0	2		98	0,8600		0,0,4300	no	missense,missense	CCL20	NM_001130046.1,NM_004591.2	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign	84/96,85/97	228681084	1,13005	2203	4300	6503	SO:0001583	missense	0			D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"Chemokine ligands", "Endogenous ligands"	10619	protein-coding gene	gene with protein product		601960	"small inducible cytokine subfamily A (Cys-Cys), member 20"	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.253A>G	2.37:g.228681084A>G	ENSP00000351671:p.Ile85Val		Q53S51|Q99664	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.I85V	ENST00000358813.4	37	c.253	CCDS2469.1	2	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.477067	0.01035	2.27E-4	0.0	ENSG00000115009	ENST00000409189;ENST00000358813	T;T	0.04706	3.57;3.57	5.19	2.24	0.28232	Chemokine interleukin-8-like domain (3);	0.303658	0.30890	N	0.008671	T	0.02848	0.0085	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.47711	-0.9096	9	0.17369	T	0.5	2.2428	7.9962	0.30269	0.2683:0.0:0.7317:0.0	.	84;85	P78556-2;P78556	.;CCL20_HUMAN	V	84;85	ENSP00000386273:I84V;ENSP00000351671:I85V	ENSP00000351671:I85V	I	+	1	0	CCL20	228389328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.053000	0.14184	0.275000	0.22094	-0.345000	0.07892	ATT	CCL20	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000115009		0.398	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCL20	HGNC	protein_coding	OTTHUMT00000331641.1		0	24	0	A	NM_004591		228681084	1			no_errors	ENST00000358813	ensembl	human	known	74_37	missense	20.00	8	2	SNP	0.000	G	G	228681084	A	G	228681084	3	3	166	1	0	0	0	0	1	0	0	0	2899	449	16	4	263	4	CCL20	2	228681084	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	3018525	228681084	14518289	38	41806											
PID1	55022	genome.wustl.edu	37	chr2	229890706	229890706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatttccaggagggcattgGccggaaagacatcctctcgg	9	8	14	10	2	1	1	0	0	1	1	4	4	3	4	3	6	0	1	3	6	1	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:229890706G>A	ENST00000354069.6	-	3	425	c.395C>T	c.(394-396)gCc>gTc	p.A132V	PID1_ENST00000409462.1_Missense_Mutation_p.A50V|PID1_ENST00000392054.3_Missense_Mutation_p.A130V|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.A99V			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	132	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)		GAGGGCATTGGCCGGAAAGAC	0.562																																																	0													93	89	90					2																	229890706		2203	4300	6503	SO:0001583	missense	0			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.395C>T	2.37:g.229890706G>A	ENSP00000283937:p.Ala132Val		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.A132V	ENST00000354069.6	37	c.395		2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838359	0.71373	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.4	5.4	0.78164	Pleckstrin homology-type (1);	0.368343	0.30791	N	0.008870	T	0.39200	0.1069	N	0.08118	0	0.40739	D	0.982813	B;B;B;B	0.26845	0.114;0.114;0.161;0.062	B;B;B;B	0.26770	0.026;0.016;0.073;0.055	T	0.27839	-1.0062	8	.	.	.	-36.2798	18.5255	0.90971	0.0:0.0:1.0:0.0	.	50;99;130;132	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	V	130;50;99;132;132	.	.	A	-	2	0	PID1	229598950	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.806000	0.69150	2.692000	0.91855	0.655000	0.94253	GCC	PID1	-	smart_PTB/PI_dom	ENSG00000153823		0.562	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	-	0	93	0	G	NM_017933		229890706	-1	tier1	-	no_errors	ENST00000354069	ensembl	human	known	74_37	missense	21.05	30	8	SNP	0.999	A	A	229890706	G	A	229890706	3	1	166	1	0	0	0	0	1	0	0	0	11921	1203	42	3	361	3	PID1	2	229890706	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	1209622	229890706	13308667	39	41807											
SLC16A14	151473	genome.wustl.edu	37	chr2	230911282	230911282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaacatggcattcctccagCcgtactctgcgcacaggtac	9	9	8	15	2	2	0	1	0	1	0	4	0	4	0	3	2	5	4	3	2	3	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:230911282C>T	ENST00000295190.4	-	4	1018	c.560G>A	c.(559-561)gGc>gAc	p.G187D		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	187						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)		ATTCCTCCAGCCGTACTCTGC	0.582																																																	0													92	90	91					2																	230911282		2203	4300	6503	SO:0001583	missense	0			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.560G>A	2.37:g.230911282C>T	ENSP00000295190:p.Gly187Asp		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G187D	ENST00000295190.4	37	c.560	CCDS2473.1	2	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922904	0.73213	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	D;D;D	0.86627	-2.15;-2.15;-2.15	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000007	D	0.92958	0.7759	M	0.70275	2.135	0.80722	D	1	P;D	0.89917	0.874;1.0	P;D	0.87578	0.824;0.998	D	0.92875	0.6318	10	0.51188	T	0.08	.	18.3575	0.90362	0.0:1.0:0.0:0.0	.	187;187	E7EMG7;Q7RTX9	.;MOT14_HUMAN	D	187	ENSP00000295190:G187D;ENSP00000400352:G187D;ENSP00000395775:G187D	ENSP00000295190:G187D	G	-	2	0	SLC16A14	230619526	0.996000	0.38824	0.921000	0.36526	0.687000	0.40016	5.056000	0.64287	2.557000	0.86248	0.655000	0.94253	GGC	SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.582	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2		0	43	0	C	NM_152527		230911282	-1			no_errors	ENST00000295190	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.994	T	T	230911282	C	T	230911282	3	4	166	1	0	0	0	0	1	0	0	0	14452	739	26	3	980	3	SLC16A14	2	230911282	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	1020576	230911282	12288091	40	41808											
OR6B2	389090	genome.wustl.edu	37	chr2	240969562	240969562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagagctgcgtcatgcacccGacgaaagagatgcgtttctg	10	9	12	10	4	2	2	1	0	1	2	2	5	2	2	1	0	4	3	1	0	2	2	rs368904252		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:240969562G>A	ENST00000402971.2	-	1	344	c.285C>T	c.(283-285)gtC>gtT	p.V95V		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	95						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)		TCATGCACCCGACGAAAGAGA	0.577																																																	0								G		0,3722		0,0,1861	35	35	35		285	-8.7	0	2		35	1,8139		0,1,4069	no	coding-synonymous	OR6B2	NM_001005853.1		0,1,5930	AA,AG,GG		0.0123,0.0,0.0084		95/313	240969562	1,11861	1861	4070	5931	SO:0001819	synonymous_variant	0				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.285C>T	2.37:g.240969562G>A			B2RPR3|Q8NGW0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V95	ENST00000402971.2	37	c.285	CCDS46559.1	2																																																																																			OR6B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000182083		0.577	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B2	HGNC	protein_coding	OTTHUMT00000326079.1	-	0	43	0	G	NM_001005853		240969562	-1	tier1	-	no_errors	ENST00000402971	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.000	A	A	240969562	G	A	240969562	2	1	166	1	0	0	0	0	0	0	0	1	11227	1045	37	1		1	OR6B2	2	240969562	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	10058280	240969562	2229811	41	41809											
GRM7	2917	genome.wustl.edu	37	chr3	7188222	7188222	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctcgcgtggtgccaccCgattccttccaagcccaggc	5	10	9	17	3	1	0	0	0	1	0	5	1	3	0	5	2	2	0	5	2	1	3	rs145727552		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:7188222C>T	ENST00000357716.4	+	2	877	c.603C>T	c.(601-603)ccC>ccT	p.P201P	GRM7_ENST00000389336.4_Silent_p.P201P|GRM7_ENST00000486284.1_Silent_p.P201P|GRM7_ENST00000402647.2_Silent_p.P201P|GRM7_ENST00000403881.1_Silent_p.P201P	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	201					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						TGGTGCCACCCGATTCCTTCC	0.517																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	127	115	119		603,603	-9.8	0.8	3	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRM7	NM_000844.3,NM_181874.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	201/916,201/923	7188222	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.603C>T	3.37:g.7188222C>T			Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.P201	ENST00000357716.4	37	c.603	CCDS43042.1	3																																																																																			GRM7	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000196277		0.517	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3		0	72	0	C	NM_000844		7188222	1			no_errors	ENST00000402647	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.058	T	T	7188222	C	T	7188222	2	4	166	1	0	0	0	0	0	0	0	1	6829	639	23	1		1	GRM7	3	7188222	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09		7188222	190834208	42	41810											
RBMS3	27303	genome.wustl.edu	37	chr3	30032678	30032678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccaacgaacatgcacctGcatattcttaccaacagtct	13	10	4	14	1	2	0	0	0	2	0	3	1	3	0	3	0	6	2	3	0	5	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:30032678G>A	ENST00000383767.2	+	14	1621	c.1285G>A	c.(1285-1287)Gca>Aca	p.A429T	RBMS3_ENST00000383766.2_Missense_Mutation_p.A411T|RBMS3_ENST00000434693.2_Missense_Mutation_p.A428T|RBMS3_ENST00000456853.1_Missense_Mutation_p.A426T|RBMS3_ENST00000273139.9_Missense_Mutation_p.A413T|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000452462.1_Missense_Mutation_p.A413T|RBMS3_ENST00000396583.3_Missense_Mutation_p.A426T			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	429					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)				ACATGCACCTGCATATTCTTA	0.483																																																	0													243	173	197					3																	30032678		2203	4300	6503	SO:0001583	missense	0			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.1285G>A	3.37:g.30032678G>A	ENSP00000373277:p.Ala429Thr		A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.A429T	ENST00000383767.2	37	c.1285	CCDS33724.1	3	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473769	0.63737	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.28454	1.62;1.64;1.63;1.63;1.79;1.61;1.64	5.3	5.3	0.74995	.	0.122286	0.56097	D	0.000032	T	0.27063	0.0663	L	0.34521	1.04	0.58432	D	0.999992	B;B;B;B	0.12630	0.003;0.006;0.006;0.004	B;B;B;B	0.17979	0.02;0.02;0.02;0.009	T	0.04752	-1.0929	9	.	.	.	.	18.9853	0.92767	0.0:0.0:1.0:0.0	.	413;426;411;429	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	T	428;426;429;413;411;413;426	ENSP00000395592:A428T;ENSP00000379828:A426T;ENSP00000373277:A429T;ENSP00000273139:A413T;ENSP00000373276:A411T;ENSP00000397926:A413T;ENSP00000400519:A426T	.	A	+	1	0	RBMS3	30007682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.771000	0.68881	2.469000	0.83416	0.655000	0.94253	GCA	RBMS3	-	NULL	ENSG00000144642		0.483	RBMS3-001	KNOWN	basic|CCDS	protein_coding	RBMS3	HGNC	protein_coding	OTTHUMT00000341306.1	-	0	80	0	G	NM_001003792		30032678	1	tier1	-	no_errors	ENST00000383767	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	A	A	30032678	G	A	30032678	3	1	166	1	0	0	0	0	1	0	0	0	13195	1319	46	3	1382	3	RBMS3	3	30032678	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	22844456	30032678	167989752	43	41811											
PTH1R	5745	genome.wustl.edu	37	chr3	46939390	46939390	+	Missense_Mutation	SNP	T	T	A	0	1	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	ccacatcctgtgctggccgcTgggggcaccaggtgaggtgg	5	7	17	12	1	0	1	0	1	0	0	1	1	1	1	4	6	1	3	4	6	0	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:46939390T>A	ENST00000313049.5	+	4	562	c.359T>A	c.(358-360)cTg>cAg	p.L120Q	PTH1R_ENST00000430002.2_Missense_Mutation_p.L120Q|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Missense_Mutation_p.L120Q|PTH1R_ENST00000418619.1_Missense_Mutation_p.L120Q			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	120					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)	TGCTGGCCGCTGGGGGCACCA	0.597																																																	0													53	50	51					3																	46939390		2203	4300	6503	SO:0001583	missense	0				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.359T>A	3.37:g.46939390T>A	ENSP00000321999:p.Leu120Gln		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.L120Q	ENST00000313049.5	37	c.359	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	T	7.221	0.597316	0.13875	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.24	2.7	0.31948	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	T	0.11196	0.0273	N	0.00289	-1.7	0.22034	N	0.999407	B	0.14012	0.009	B	0.15052	0.012	T	0.28618	-1.0038	9	0.13470	T	0.59	.	1.8766	0.03219	0.1625:0.0907:0.1688:0.578	.	120	Q03431	PTH1R_HUMAN	Q	120	ENSP00000402723:L120Q;ENSP00000411424:L120Q;ENSP00000400977:L120Q;ENSP00000413774:L120Q;ENSP00000321999:L120Q	ENSP00000321999:L120Q	L	+	2	0	PTH1R	46914394	0.005000	0.15991	0.432000	0.26747	0.974000	0.67602	0.904000	0.28491	0.832000	0.34804	0.459000	0.35465	CTG	PTH1R	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000160801		0.597	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1	-	0	74	0	T	NM_000316		46939390	1	tier1	-	no_errors	ENST00000313049	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.486	A	A	46939390	T	A	46939390	3	1	166	1	0	0	0	0	1	0	0	0	12801	1580	55	5	373	5	PTH1R	3	46939390	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	16906712	46939390	151083040	44	41812											
PLXNB1	5364	genome.wustl.edu	37	chr3	48456238	48456238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacacactcccaggcttgtgCcggaatggcatggtggggtc	8	8	14	11	1	0	0	0	0	0	0	2	1	1	1	2	6	2	2	2	6	2	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:48456238C>T	ENST00000358536.4	-	21	4448	c.4179G>A	c.(4177-4179)cgG>cgA	p.R1393R	PLXNB1_ENST00000296440.6_Silent_p.R1393R|PLXNB1_ENST00000448774.2_Silent_p.R4R|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000456774.1_Silent_p.R1210R|PLXNB1_ENST00000358459.4_Silent_p.R1210R	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1393					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)		CAGGCTTGTGCCGGAATGGCA	0.602																																																	0													79	83	82					3																	48456238		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4179G>A	3.37:g.48456238C>T			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R1393	ENST00000358536.4	37	c.4179	CCDS2765.1	3																																																																																			PLXNB1	-	NULL	ENSG00000164050		0.602	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	-	0	71	0	C	NM_002673		48456238	-1	tier1	-	no_errors	ENST00000296440	ensembl	human	known	74_37	silent	20.00	16	4	SNP	1.000	T	T	48456238	C	T	48456238	2	4	166	1	0	0	0	0	0	0	0	1	12162	726	26	3		3	PLXNB1	3	48456238	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	1516848	48456238	149566192	45	41813											
FAM107A	11170	genome.wustl.edu	37	chr3	58555547	58555547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attctggccgggccatcaggCccccaatgtctgcccgctcc	5	8	10	18	2	3	0	1	0	2	0	4	0	4	0	6	3	1	1	6	3	1	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:58555547C>T	ENST00000394481.1	-	3	599	c.41G>A	c.(40-42)gGc>gAc	p.G14D	FAM107A_ENST00000464064.1_Missense_Mutation_p.G14D|RP11-475O23.2_ENST00000472513.1_RNA|FAM107A_ENST00000360997.2_Missense_Mutation_p.G14D|FAM107A_ENST00000474531.1_Missense_Mutation_p.G45D|FAM107A_ENST00000447756.2_Missense_Mutation_p.G42D	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	14					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)		GGCCATCAGGCCCCCAATGTC	0.597																																																	0													69	73	71					3																	58555547		2203	4300	6503	SO:0001583	missense	0			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.41G>A	3.37:g.58555547C>T	ENSP00000377991:p.Gly14Asp		B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	pfam_DUF1151	p.G14D	ENST00000394481.1	37	c.41	CCDS2892.1	3	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343653	0.41498	.	.	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000464064;ENST00000474531;ENST00000447756;ENST00000465970	T;T;T;T;T;T	0.44083	1.56;1.56;0.93;1.5;1.5;0.98	4.49	2.64	0.31445	.	0.317042	0.31949	N	0.006805	T	0.23806	0.0576	N	0.08118	0	0.30529	N	0.767643	B;P;B;B	0.40211	0.0;0.707;0.0;0.267	B;B;B;B	0.42653	0.0;0.394;0.0;0.039	T	0.11792	-1.0573	10	0.36615	T	0.2	-9.3315	8.6571	0.34071	0.0:0.7455:0.0:0.2545	.	42;14;45;14	B7ZAY5;O95990-2;B3KNQ4;O95990	.;.;.;F107A_HUMAN	D	14;14;14;45;42;14	ENSP00000354270:G14D;ENSP00000377991:G14D;ENSP00000419529:G14D;ENSP00000419124:G45D;ENSP00000400858:G42D;ENSP00000418038:G14D	ENSP00000354270:G14D	G	-	2	0	FAM107A	58530587	1.000000	0.71417	0.920000	0.36463	0.925000	0.55904	2.087000	0.41653	1.012000	0.39366	0.655000	0.94253	GGC	FAM107A	-	NULL	ENSG00000168309		0.597	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM107A	HGNC	protein_coding	OTTHUMT00000353585.1	-	0	30	0	C	NM_007177		58555547	-1	tier1	-	no_errors	ENST00000360997	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.869	T	T	58555547	C	T	58555547	3	4	166	1	0	0	0	0	1	0	0	0	5408	739	26	3	405	3	FAM107A	3	58555547	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	10099309	58555547	139466883	46	41814											
OR5H1	26341	genome.wustl.edu	37	chr3	97851542	97851542	+	Splice_Site	SNP	A	A	C	1	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	agagggcatgctgtgaggacAtggaagaggaaaatgcaaca	16	5	15	5	0	0	3	0	1	0	2	0	6	0	6	0	4	3	3	0	4	4	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:97851542A>C	ENST00000354565.2	+	1	1	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	1						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						CTGTGAGGACATGGAAGAGGA	0.398																																																	0													84	85	85					3																	97851542		2202	4291	6493	SO:0001630	splice_region_variant	0			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.1-1A>C	3.37:g.97851542A>C				Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M1L	ENST00000354565.2	37	c.1	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	A	11.81	1.748858	0.30955	.	.	ENSG00000231192	ENST00000354565	T	0.01295	5.04	3.63	3.63	0.41609	.	0.144353	0.32802	N	0.005630	T	0.01222	0.0040	.	.	.	.	.	.	B	0.16802	0.019	B	0.20384	0.029	T	0.36986	-0.9725	7	.	.	.	.	10.2248	0.43218	1.0:0.0:0.0:0.0	.	1	A6NKK0	OR5H1_HUMAN	L	1	ENSP00000346575:M1L	.	M	+	1	0	OR5H1	99334232	1.000000	0.71417	0.017000	0.16124	0.062000	0.15995	4.678000	0.61641	1.511000	0.48818	0.164000	0.16699	ATG	OR5H1	-	NULL	ENSG00000231192		0.398	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	-	0	93	0	A	NM_001005338	Missense_Mutation	97851542	1	tier1	-	no_errors	ENST00000354565	ensembl	human	known	74_37	missense	10.13	71	8	SNP	0.219	C	C	97851542	A	C	97851542	5	2	166	1	0	0	0	0	0	0	1	0	11198	231	8	4	3	4	OR5H1	3	97851542	Splice_Site	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	39295995	97851542	100170888	47	41815											
KALRN	8997	genome.wustl.edu	37	chr3	124351417	124351417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgacgagtcctgtgcGtcggcttaacagcgggaagg	7	8	17	9	4	0	1	0	1	0	0	2	3	1	2	1	4	3	2	1	4	2	1	rs368927353		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:124351417G>A	ENST00000291478.5	+	2	399	c.236G>A	c.(235-237)cGt>cAt	p.R79H	KALRN_ENST00000393496.1_Missense_Mutation_p.R149H|KALRN_ENST00000360013.3_Missense_Mutation_p.R1776H|KALRN_ENST00000428018.2_Missense_Mutation_p.R79H	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1776	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)	p.R79H(1)		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						AGTCCTGTGCGTCGGCTTAAC	0.572																																																	1	Substitution - Missense(1)	kidney(1)						G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	65	70	68		5327,236	5	1	3		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KALRN	NM_001024660.3,NM_007064.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1776/2987,79/1290	124351417	1,13005	2203	4300	6503	SO:0001583	missense	0			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.236G>A	3.37:g.124351417G>A	ENSP00000291478:p.Arg79His		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R1776H	ENST00000291478.5	37	c.5327	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.503265|5.503265	0.96371|0.96371	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000454902;ENST00000428018|ENST00000354186	T;T;T;T|.	0.78126|.	-0.73;-0.42;-0.95;-1.15|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74458|0.74458	0.3719|0.3719	M|M	0.67700|0.67700	2.07|2.07	0.48696|0.48696	D|D	0.99969|0.99969	D;D;D|.	0.76494|.	0.977;0.97;0.999|.	P;P;D|.	0.76071|.	0.751;0.59;0.987|.	T|T	0.73304|0.73304	-0.4025|-0.4025	10|5	0.87932|.	D|.	0|.	.|.	18.5571|18.5571	0.91089|0.91089	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	79;149;1776|.	C9JQ37;O60229-5;O60229|.	.;.;KALRN_HUMAN|.	H|I	1776;149;79;79;79|1745	ENSP00000353109:R1776H;ENSP00000377134:R149H;ENSP00000291478:R79H;ENSP00000402419:R79H|.	ENSP00000291478:R79H|.	R|V	+|+	2|1	0|0	KALRN|KALRN	125834107|125834107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.397000|7.397000	0.79903|0.79903	2.619000|2.619000	0.88677|0.88677	0.498000|0.498000	0.49722|0.49722	CGT|GTC	KALRN	-	NULL	ENSG00000160145		0.572	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	-	0	53	0	G	NM_003947		124351417	1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	14.58	41	7	SNP	1.000	A	A	124351417	G	A	124351417	3	1	166	1	0	0	0	0	1	0	0	0	8002	1145	40	1	5621	1	KALRN	3	124351417	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	26499875	124351417	73671013	48	41816											
SLC41A3	54946	genome.wustl.edu	37	chr3	125775343	125775343	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagctcacagctgaagcctCgcagcttcttgccctgaaag	10	9	9	13	1	2	2	1	2	1	0	3	2	2	2	2	0	5	4	2	0	3	3	rs367939630		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:125775343C>T	ENST00000315891.6	-	3	512				SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000514023.1_Intron|RP11-158I23.1_ENST00000508263.1_RNA|SLC41A3_ENST00000346785.5_Intron|SLC41A3_ENST00000383598.2_Missense_Mutation_p.R18Q|SLC41A3_ENST00000360370.4_Intron	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3							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)		GCTGAAGCCTCGCAGCTTCTT	0.582																																																	0								C	,,GLN/ARG,,	0,4406		0,0,2203	90	78	82		,,53,,	5.2	1	3		82	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron,intron	SLC41A3	NM_001008485.1,NM_001008486.1,NM_001008487.1,NM_001164475.1,NM_017836.3	,,43,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	,,18/462,,	125775343	1,13005	2203	4300	6503	SO:0001627	intron_variant	0				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.274-5450G>A	3.37:g.125775343C>T			A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	pfam_SLC41_membr_dom	p.R18Q	ENST00000315891.6	37	c.53	CCDS33843.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.370841	0.95923	0.0	1.16E-4	ENSG00000114544	ENST00000383598;ENST00000513723	T;T	0.41758	1.41;0.99	5.2	5.2	0.72013	.	.	.	.	.	T	0.47451	0.1446	N	0.12961	0.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.46830	-0.9163	9	0.33141	T	0.24	.	16.213	0.82185	0.0:1.0:0.0:0.0	.	18	Q96GZ6-7	.	Q	18;96	ENSP00000373092:R18Q;ENSP00000425373:R96Q	ENSP00000373092:R18Q	R	-	2	0	SLC41A3	127258033	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.415000	0.66411	2.419000	0.82065	0.585000	0.79938	CGA	SLC41A3	-	NULL	ENSG00000114544		0.582	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	HGNC	protein_coding	OTTHUMT00000370886.1	-	0	36	0	C	NM_017836		125775343	-1	tier1	-	no_errors	ENST00000383598	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	125775343	C	T	125775343	1	4	166	0	1	0	0	0	0	0	0	0	14676	884	31	1		1	SLC41A3	3	125775343	Intron	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	1423926	125775343	72247087	49	41817											
ACAD9	28976	genome.wustl.edu	37	chr3	128616490	128616490	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgggagcgatgcagcCtcaatccggagcagagccac	10	5	14	12	2	1	1	1	0	0	1	2	4	2	3	3	2	6	3	3	2	1	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:128616490C>T	ENST00000308982.7	+	6	651	c.570C>T	c.(568-570)gcC>gcT	p.A190A		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	190						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GCGATGCAGCCTCAATCCGGA	0.488																																																	0													140	100	113					3																	128616490		2203	4300	6503	SO:0001819	synonymous_variant	0			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.570C>T	3.37:g.128616490C>T			D3DNB8|Q8WXX3	Silent	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.A190	ENST00000308982.7	37	c.570	CCDS3053.1	3																																																																																			ACAD9	-	pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000177646		0.488	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	-	0	58	0	C	NM_014049		128616490	1	tier1	-	no_errors	ENST00000308982	ensembl	human	known	74_37	silent	16.36	46	9	SNP	0.908	T	T	128616490	C	T	128616490	2	4	166	1	0	0	0	0	0	0	0	1	111	668	24	3		3	ACAD9	3	128616490	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	2841147	128616490	69405940	50	41818											
CP	1356	genome.wustl.edu	37	chr3	148925178	148925178	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtttagattctgacagctGagcatccattctccagggtt	8	14	10	9	0	2	3	0	2	2	1	4	3	3	3	2	2	2	4	2	2	1	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:148925178G>A	ENST00000264613.6	-	5	1270	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	336	F5/8 type A 1.|Plastocyanin-like 2.				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)	TCTGACAGCTGAGCATCCATT	0.428																																																	0													107	103	104					3																	148925178		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1008C>T	3.37:g.148925178G>A			Q14063|Q2PP18|Q9UKS4	Silent	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.L336	ENST00000264613.6	37	c.1008	CCDS3141.1	3																																																																																			CP	-	pfam_Cu-oxidase_2,pfam_Cu-oxidase,superfamily_Cupredoxin	ENSG00000047457		0.428	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1		0	65	0	G	NM_000096		148925178	-1			no_errors	ENST00000264613	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.848	A	A	148925178	G	A	148925178	2	1	166	1	0	0	0	0	0	0	0	1	3794	1277	45	3		3	CP	3	148925178	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	20308688	148925178	49097252	51	41819											
KLHL24	54800	genome.wustl.edu	37	chr3	183381296	183381296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttggaggatgtgagcgagTtggaggatttaatcttccat	9	13	14	5	2	1	1	0	1	1	0	2	6	2	5	1	4	1	2	1	4	1	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:183381296T>C	ENST00000454652.2	+	5	1357	c.971T>C	c.(970-972)gTt>gCt	p.V324A	KLHL24_ENST00000476808.1_Missense_Mutation_p.V324A|KLHL24_ENST00000242810.6_Missense_Mutation_p.V324A	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	324						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)			TGTGAGCGAGTTGGAGGATTT	0.363																																																	0													172	156	162					3																	183381296		2203	4300	6503	SO:0001583	missense	0				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.971T>C	3.37:g.183381296T>C	ENSP00000395012:p.Val324Ala		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V324A	ENST00000454652.2	37	c.971	CCDS3246.1	3	.	.	.	.	.	.	.	.	.	.	T	12.72	2.023718	0.35701	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.65178	-0.14;-0.14;-0.14	5.34	5.34	0.76211	Galactose oxidase, beta-propeller (1);	0.118515	0.56097	D	0.000024	T	0.46580	0.1400	N	0.21282	0.65	0.58432	D	0.999996	B;B	0.28971	0.229;0.001	B;B	0.32211	0.142;0.02	T	0.42224	-0.9464	10	0.05525	T	0.97	.	15.6181	0.76784	0.0:0.0:0.0:1.0	.	324;324	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	A	324	ENSP00000242810:V324A;ENSP00000395012:V324A;ENSP00000419010:V324A	ENSP00000242810:V324A	V	+	2	0	KLHL24	184863990	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.834000	0.62774	2.161000	0.67846	0.379000	0.24179	GTT	KLHL24	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000114796		0.363	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLHL24	HGNC	protein_coding	OTTHUMT00000346586.2		0	77	0	T	NM_017644		183381296	1			no_errors	ENST00000242810	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C	C	183381296	T	C	183381296	3	2	166	1	0	0	0	0	1	0	0	0	8406	1725	60	4	977	4	KLHL24	3	183381296	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	34456118	183381296	14641134	52	41820											
EIF4A2	1974	genome.wustl.edu	37	chr3	186507053	186507053	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgaatgtggctgaccttAtttaattcctgggatgagag	10	13	11	7	0	0	3	0	3	0	1	1	5	1	4	3	2	0	1	3	2	3	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:186507053A>G	ENST00000323963.5	+	11	1283	c.1219A>G	c.(1219-1221)Att>Gtt	p.I407V	SNORA81_ENST00000408493.2_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.I408V|SNORA63_ENST00000363450.1_RNA|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.I312V			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	407	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)		GGCTGACCTTATTTAATTCCT	0.408			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0													141	147	145					3																	186507053		2203	4300	6503	SO:0001583	missense	0			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.1219A>G	3.37:g.186507053A>G	ENSP00000326381:p.Ile407Val		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.I408V	ENST00000323963.5	37	c.1222	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999184	0.35226	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.32988	1.7;1.71;1.43	5.77	5.77	0.91146	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.16727	0.0402	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.12837	0.004;0.008;0.006	T	0.06588	-1.0818	10	0.52906	T	0.07	.	14.3411	0.66627	1.0:0.0:0.0:0.0	.	312;408;407	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	V	407;408;312	ENSP00000326381:I407V;ENSP00000398370:I408V;ENSP00000348925:I312V	ENSP00000326381:I407V	I	+	1	0	EIF4A2	187989747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.780000	0.91799	2.326000	0.78906	0.533000	0.62120	ATT	EIF4A2	-	pfscan_Helicase_C	ENSG00000156976		0.408	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	-	0	42	0	A	NM_001967		186507053	1	tier1	-	no_errors	ENST00000440191	ensembl	human	known	74_37	missense	32.26	21	10	SNP	1.000	G	G	186507053	A	G	186507053	3	3	166	1	0	0	0	0	1	0	0	0	5041	449	16	4	1261	4	EIF4A2	3	186507053	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	3125757	186507053	11515377	53	41821											
PIGX	54965	genome.wustl.edu	37	chr3	196460740	196460740	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctctacattgatccttgtAgcagttttcaaatatggcca	10	15	7	9	0	2	1	1	1	1	0	3	1	3	1	2	1	3	4	2	1	4	7			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:196460740A>T	ENST00000314118.4	+	6	903	c.621A>T	c.(619-621)gtA>gtT	p.V207V	PIGX_ENST00000541663.1_Silent_p.V158V	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	248					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)				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		TGATCCTTGTAGCAGTTTTCA	0.368																																																	0													207	180	189					3																	196460740		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"Phosphatidylinositol glycan anchor biosynthesis"	26046	protein-coding gene	gene with protein product		610276	"phosphatidylinositol glycan, class X"			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000314118.4:c.621A>T	3.37:g.196460740A>T			Q9NWZ2	Silent	SNP	pfam_PIG-X/PBN1,smart_PIG-X/PBN1	p.V266	ENST00000314118.4	37	c.798		3																																																																																			PIGX	-	pfam_PIG-X/PBN1,smart_PIG-X/PBN1	ENSG00000163964		0.368	PIGX-201	KNOWN	basic|appris_principal	protein_coding	PIGX	HGNC	protein_coding		-	0	72	0	A	NM_017861		196460740	1	tier1	-	no_errors	ENST00000296333	ensembl	human	known	74_37	silent	43.30	55	42	SNP	0.000	T	T	196460740	A	T	196460740	2	4	166	1	0	0	0	0	0	0	0	1	11942	407	15	5		5	PIGX	3	196460740	Silent	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	9953687	196460740	1561690	54	41822											
ADD1	118	genome.wustl.edu	37	chr4	2896417	2896417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgctgcacgcccggacGtgaagtgcgtcgtgcacatt	7	11	12	11	5	0	1	0	1	0	0	1	2	0	2	1	1	4	3	1	1	2	3	rs560749760		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:2896417G>A	ENST00000398129.1	+	5	720	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	ADD1_ENST00000264758.7_Missense_Mutation_p.V234M|ADD1_ENST00000503455.2_Missense_Mutation_p.V234M|ADD1_ENST00000513328.2_Missense_Mutation_p.V234M|ADD1_ENST00000398125.1_Missense_Mutation_p.V234M|ADD1_ENST00000355842.3_Missense_Mutation_p.V234M|ADD1_ENST00000446856.1_Missense_Mutation_p.V234M|ADD1_ENST00000398123.2_Missense_Mutation_p.V234M			P35611	ADDA_HUMAN	adducin 1 (alpha)	234					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)		ACGCCCGGACGTGAAGTGCGT	0.537													G|||	1	0.000199681	0	0	5008	,	,		14057	0		0	False		,,,				2504	0.001				Esophageal Squamous(71;505 1201 20414 34538 37449)												0													63	54	57					4																	2896417		2203	4300	6503	SO:0001583	missense	0			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.700G>A	4.37:g.2896417G>A	ENSP00000381197:p.Val234Met		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.V234M	ENST00000398129.1	37	c.700	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652153	0.88056	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.6	4.58	0.56647	Class II aldolase/adducin, N-terminal (3);	0.164155	0.53938	D	0.000060	T	0.59542	0.2201	M	0.89095	3.005	0.44036	D	0.996766	D;D;P;D;D;D;D	0.76494	0.99;0.99;0.945;0.999;0.998;0.966;0.992	P;D;P;D;P;P;P	0.71870	0.875;0.922;0.736;0.975;0.891;0.64;0.789	T	0.66913	-0.5803	10	0.87932	D	0	-18.1008	13.1646	0.59562	0.1328:0.0:0.8672:0.0	.	234;234;234;234;234;234;234	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	M	234;234;234;234;234;129;234;234;234;234	ENSP00000264758:V234M;ENSP00000399828:V234M;ENSP00000381193:V234M;ENSP00000421907:V234M;ENSP00000426700:V129M;ENSP00000423024:V234M;ENSP00000348100:V234M;ENSP00000381191:V234M;ENSP00000381197:V234M	ENSP00000264758:V234M	V	+	1	0	ADD1	2866215	1.000000	0.71417	0.120000	0.21714	0.948000	0.59901	4.081000	0.57627	2.635000	0.89317	0.591000	0.81541	GTG	ADD1	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	ENSG00000087274		0.537	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	-	0	49	0	G	NM_014189		2896417	1	tier1	-	no_errors	ENST00000264758	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.996	A	A	2896417	G	A	2896417	3	1	166	1	0	0	0	0	1	0	0	0	304	1145	40	1	718	1	ADD1	4	2896417	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09		2896417	188257859	55	41823											
WDR1	9948	genome.wustl.edu	37	chr4	10099383	10099383	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtccctcaaagaatgccgcGcagttatcatcgcttcccgt	8	10	9	14	4	2	1	2	0	0	1	5	1	4	1	3	1	1	3	3	1	3	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:10099383G>T	ENST00000499869.2	-	5	703	c.510C>A	c.(508-510)tgC>tgA	p.C170*	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382452.2_Nonsense_Mutation_p.C170*|WDR1_ENST00000382451.2_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	170					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.C170C(2)		endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AGAATGCCGCGCAGTTATCAT	0.498																																																	2	Substitution - coding silent(2)	lung(2)											77	82	80					4																	10099383		1976	4154	6130	SO:0001587	stop_gained	0			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.510C>A	4.37:g.10099383G>T	ENSP00000427687:p.Cys170*		A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.C170*	ENST00000499869.2	37	c.510	CCDS54740.1	4	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739561	0.69304	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000508079	.	.	.	5.56	-7.52	0.01341	.	0.046343	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-23.5567	17.3078	0.87200	0.7838:0.0:0.2162:0.0	.	.	.	.	X	170;170;174	.	ENSP00000371890:C170X	C	-	3	2	WDR1	9708481	0.004000	0.15560	0.245000	0.24217	0.426000	0.31534	-1.050000	0.03510	-1.701000	0.01413	-0.244000	0.11960	TGC	WDR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000071127		0.498	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR1	HGNC	protein_coding	OTTHUMT00000359877.1		0	35	0	G			10099383	-1			no_errors	ENST00000382452	ensembl	human	known	74_37	nonsense	15.38	11	2	SNP	0.488	T	T	10099383	G	T	10099383	4	4	166	1	0	0	0	0	0	1	0	0	17321	1079	38	2	1354	2	WDR1	4	10099383	Nonsense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	7202966	10099383	181054893	56	41824											
GUF1	60558	genome.wustl.edu	37	chr4	44688650	44688650	+	Silent	SNP	T	T	A	0	1	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	gtttccaaaggagataaaatTgtatctgcacatactcaaaa	17	11	6	7	0	2	1	1	0	1	1	3	2	3	1	1	1	2	3	1	1	7	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:44688650T>A	ENST00000281543.5	+	8	1052	c.858T>A	c.(856-858)atT>atA	p.I286I	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GAGATAAAATTGTATCTGCAC	0.378																																																	0													135	134	134					4																	44688650		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.858T>A	4.37:g.44688650T>A				Silent	SNP	pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom	p.I286	ENST00000281543.5	37	c.858	CCDS3468.1	4																																																																																			GUF1	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel,tigrfam_EF-4	ENSG00000151806		0.378	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUF1	HGNC	protein_coding	OTTHUMT00000250469.3	-	0	128	0	T	NM_021927		44688650	1	tier1	-	no_errors	ENST00000281543	ensembl	human	known	74_37	silent	40.00	27	18	SNP	1.000	A	A	44688650	T	A	44688650	2	1	166	1	0	0	0	0	0	0	0	1	6926	1800	63	5		5	GUF1	4	44688650	Silent	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	34589267	44688650	146465626	57	41825											
HNRPDL	9987	genome.wustl.edu	37	chr4	83350556	83350556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcagcggcggcggagcgTtgtatggagctggatttaaa	9	8	17	7	4	0	0	0	0	0	0	0	3	0	3	0	5	4	5	0	5	3	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:83350556T>C	ENST00000295470.5	-	1	463	c.288A>G	c.(286-288)caA>caG	p.Q96Q	HNRNPDL_ENST00000349655.4_5'UTR|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000514511.1_5'UTR|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000502762.1_Silent_p.Q96Q	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	96					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)										CGGCGGAGCGTTGTATGGAGC	0.657																																																	0													33	42	39					4																	83350556		2201	4298	6499	SO:0001819	synonymous_variant	0			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.288A>G	4.37:g.83350556T>C			Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q96	ENST00000295470.5	37	c.288	CCDS3593.1	4																																																																																			HNRNPDL	-	NULL	ENSG00000152795		0.657	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPDL	HGNC	protein_coding	OTTHUMT00000252644.1	-	0	72	0	T	NM_005463		83350556	-1	tier1	-	no_errors	ENST00000295470	ensembl	human	known	74_37	silent	34.04	31	16	SNP	0.998	C	C	83350556	T	C	83350556	2	2	166	1	0	0	0	0	0	0	0	1	7303	1722	60	4		4	HNRPDL	4	83350556	Silent	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	38661906	83350556	107803720	58	41826											
PPM1K	152926	genome.wustl.edu	37	chr4	89198299	89198299	+	Silent	SNP	A	A	G	1	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	tgatagttttacataccatcAgcagacaggcgggcatgact	12	10	10	9	1	1	3	1	2	0	1	1	3	1	3	1	2	3	3	1	2	3	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:89198299A>G	ENST00000608933.1	-	3	926	c.537T>C	c.(535-537)gcT>gcC	p.A179A	PPM1K_ENST00000514204.1_Silent_p.A179A|RNU6-112P_ENST00000363599.1_RNA|PPM1K_ENST00000508256.1_5'UTR|PPM1K_ENST00000315194.4_Silent_p.A179A|PPM1K_ENST00000295908.7_Silent_p.A179A|PPM1K_ENST00000506423.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	179	PP2C-like.				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)		ACATACCATCAGCAGACAGGC	0.448																																																	0													75	78	77					4																	89198299		2203	4300	6503	SO:0001819	synonymous_variant	0			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.537T>C	4.37:g.89198299A>G			B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Silent	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.A179	ENST00000608933.1	37	c.537	CCDS3629.1	4																																																																																			PPM1K	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000163644		0.448	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1K	HGNC	protein_coding	OTTHUMT00000253553.4	-	0	96	0	A	NM_152542		89198299	-1	tier1	-	no_errors	ENST00000608933	ensembl	human	known	74_37	silent	36.96	29	17	SNP	1.000	G	G	89198299	A	G	89198299	2	3	166	1	0	0	0	0	0	0	0	1	12385	175	7	4		4	PPM1K	4	89198299	Silent	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	5847743	89198299	101955977	59	41827											
BMPR1B	658	genome.wustl.edu	37	chr4	96051071	96051071	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagattggaaaaggtcgctAtggggaagtttggatgggaa	13	9	16	3	1	0	1	0	0	0	1	1	5	0	5	0	6	0	2	0	6	5	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:96051071A>C	ENST00000515059.1	+	9	927	c.644A>C	c.(643-645)tAt>tCt	p.Y215S	BMPR1B_ENST00000394931.1_Missense_Mutation_p.Y215S|BMPR1B_ENST00000440890.2_Missense_Mutation_p.Y245S|BMPR1B_ENST00000264568.4_Missense_Mutation_p.Y215S	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AAAGGTCGCTATGGGGAAGTT	0.453																																																	0													138	148	145					4																	96051071		2203	4300	6503	SO:0001583	missense	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.644A>C	4.37:g.96051071A>C	ENSP00000426617:p.Tyr215Ser		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.Y245S	ENST00000515059.1	37	c.734	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197981	0.79015	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.69	5.69	0.88448	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	0.94761	0.8309	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95521	0.8594	10	0.87932	D	0	.	16.0008	0.80292	1.0:0.0:0.0:0.0	.	215	O00238	BMR1B_HUMAN	S	215;215;215;245;215;215	ENSP00000426617:Y215S;ENSP00000425444:Y215S;ENSP00000421671:Y215S;ENSP00000401907:Y245S;ENSP00000264568:Y215S;ENSP00000378389:Y215S	ENSP00000264568:Y215S	Y	+	2	0	BMPR1B	96270094	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.270000	0.78493	2.179000	0.69175	0.451000	0.29950	TAT	BMPR1B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000138696		0.453	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	-	0	61	0	A	NM_001203		96051071	1	tier1	-	no_errors	ENST00000440890	ensembl	human	known	74_37	missense	44.44	19	16	SNP	1.000	C	C	96051071	A	C	96051071	3	2	166	1	0	0	0	0	1	0	0	0	1472	449	16	4	666	4	BMPR1B	4	96051071	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	6852772	96051071	95103205	60	41828											
ANK2	287	genome.wustl.edu	37	chr4	114209643	114209643	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgttaacgcaaaaaccaagGtaaagtacttgtggtcattt	15	12	8	6	1	1	0	1	0	0	0	1	0	1	0	1	2	3	4	1	2	7	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:114209643G>T	ENST00000357077.4	+	20	2330		c.e20+1		ANK2_ENST00000506722.1_Splice_Site|ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000264366.6_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						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)		AAAAACCAAGGTAAAGTACTT	0.383																																																	0													77	74	75					4																	114209643		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2277+1G>T	4.37:g.114209643G>T			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Splice_Site	SNP	-	e20+1	ENST00000357077.4	37	c.2277+1	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393082	0.83011	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6162	0.91303	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANK2	114429092	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.845000	0.99498	2.381000	0.81170	0.460000	0.39030	.	ANK2	-	-	ENSG00000145362		0.383	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	115	0	G	NM_001148	Intron	114209643	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	splice_site	6.90	54	4	SNP	1.000	T	T	114209643	G	T	114209643	5	4	166	1	0	0	0	0	0	0	1	0	621	1275	44	3	2381	3	ANK2	4	114209643	Splice_Site	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	18158572	114209643	76944633	61	41829											
FAT4	79633	genome.wustl.edu	37	chr4	126241918	126241918	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgaccctgatgcagacaTtaatggtcaactatcctaca	14	10	6	11	0	1	3	1	2	0	1	2	3	2	3	2	1	3	1	2	1	4	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:126241918T>C	ENST00000394329.3	+	1	4365	c.4352T>C	c.(4351-4353)aTt>aCt	p.I1451T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1451	Cadherin 14. {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						GATGCAGACATTAATGGTCAA	0.398																																																	0													141	129	133					4																	126241918		1912	4138	6050	SO:0001583	missense	0			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.4352T>C	4.37:g.126241918T>C	ENSP00000377862:p.Ile1451Thr		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I1451T	ENST00000394329.3	37	c.4352	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307012	0.40795	.	.	ENSG00000196159	ENST00000394329	T	0.01902	4.57	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.000000	0.34725	U	0.003733	T	0.04003	0.0112	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68633	-0.5357	10	0.13853	T	0.58	.	14.6255	0.68618	0.0:0.0:0.0:1.0	.	1451	Q6V0I7	FAT4_HUMAN	T	1451	ENSP00000377862:I1451T	ENSP00000377862:I1451T	I	+	2	0	FAT4	126461368	1.000000	0.71417	0.913000	0.36048	0.375000	0.29983	7.708000	0.84633	2.050000	0.60909	0.533000	0.62120	ATT	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	38	0	T	NM_024582		126241918	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	66.67	4	8	SNP	1.000	C	C	126241918	T	C	126241918	3	2	166	1	0	0	0	0	1	0	0	0	5714	1493	52	4	4354	4	FAT4	4	126241918	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	12032275	126241918	64912358	62	41830											
GYPA	2994	genome.wustl.edu	37	chr4	145038046	145038046	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtaagaaattaagaggatCgttccaataacaccagccat	16	8	7	10	2	0	2	0	0	0	2	2	3	1	3	4	1	2	2	4	1	5	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:145038046C>T	ENST00000283126.7	-	1	93				GYPA_ENST00000512064.1_Silent_p.T93T|GYPA_ENST00000504786.1_Silent_p.T74T|GYPA_ENST00000360771.4_Silent_p.T106T|GYPA_ENST00000512789.1_Silent_p.T41T|GYPA_ENST00000503627.1_Silent_p.T61T|GYPA_ENST00000535709.1_Silent_p.T80T|GYPA_ENST00000324022.10_Silent_p.T73T|RP11-673E1.4_ENST00000506982.1_RNA			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T106T(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TTAAGAGGATCGTTCCAATAA	0.358																																																	1	Substitution - coding silent(1)	lung(1)											129	132	131					4																	145038046		2203	4300	6503	SO:0001627	intron_variant	0				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+23705G>A	4.37:g.145038046C>T			B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Silent	SNP	pfam_Glycophorin,pirsf_Glycophorin	p.T106	ENST00000283126.7	37	c.318		4																																																																																			GYPA	-	pfam_Glycophorin,pirsf_Glycophorin	ENSG00000170180		0.358	GYPB-201	KNOWN	basic|appris_principal	protein_coding	GYPA	HGNC	protein_coding			0	88	0	C	NM_002100		145038046	-1			no_errors	ENST00000360771	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.000	T	T	145038046	C	T	145038046	1	4	166	0	1	0	0	0	0	0	0	0	6935	871	31	1		1	GYPA	4	145038046	Intron	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	18796128	145038046	46116230	63	41831											
NEIL3	55247	genome.wustl.edu	37	chr4	178274833	178274833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaaaccgaaaacagccCaatactcatcaccagagctt	19	6	4	12	1	2	1	2	0	0	1	2	2	2	1	3	0	5	1	3	0	7	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:178274833C>A	ENST00000264596.3	+	8	1529	c.1411C>A	c.(1411-1413)Caa>Aaa	p.Q471K	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	471			Q -> H (in dbSNP:rs13112390). {ECO:0000269|PubMed:12200441, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GAAAACAGCCCAATACTCATC	0.333								Base excision repair (BER), DNA glycosylases																																									0													71	71	71					4																	178274833		2203	4300	6503	SO:0001583	missense	0			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1411C>A	4.37:g.178274833C>A	ENSP00000264596:p.Gln471Lys		Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat	p.Q471K	ENST00000264596.3	37	c.1411	CCDS3828.1	4	.	.	.	.	.	.	.	.	.	.	C	0.297	-0.976313	0.02215	.	.	ENSG00000109674	ENST00000264596	T	0.03745	3.82	5.09	5.09	0.68999	.	0.221814	0.46442	D	0.000290	T	0.02848	0.0085	N	0.08118	0	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.46679	-0.9174	10	0.39692	T	0.17	-1.0524	16.0366	0.80635	0.0:1.0:0.0:0.0	.	471	Q8TAT5	NEIL3_HUMAN	K	471	ENSP00000264596:Q471K	ENSP00000264596:Q471K	Q	+	1	0	NEIL3	178511827	1.000000	0.71417	0.542000	0.28115	0.069000	0.16628	2.698000	0.47068	2.663000	0.90544	0.557000	0.71058	CAA	NEIL3	-	NULL	ENSG00000109674		0.333	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL3	HGNC	protein_coding	OTTHUMT00000361914.1	-	0	69	0	C	NM_018248		178274833	1	tier1	-	no_errors	ENST00000264596	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.936	A	A	178274833	C	A	178274833	3	1	166	1	0	0	0	0	1	0	0	0	10359	595	21	3	1441	3	NEIL3	4	178274833	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	33236787	178274833	12879443	64	41832											
GPR98	84059	genome.wustl.edu	37	chr5	89990388	89990388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagcagccccaaaccttGgtggagctgatgatacacag	12	6	12	11	0	0	2	0	2	0	0	0	4	0	4	3	3	5	2	3	3	2	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:89990388G>C	ENST00000405460.2	+	33	7911	c.7815G>C	c.(7813-7815)ttG>ttC	p.L2605F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2605	Calx-beta 18. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCAAACCTTGGTGGAGCTGA	0.453																																																	0													209	213	212					5																	89990388		2011	4181	6192	SO:0001583	missense	0			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.7815G>C	5.37:g.89990388G>C	ENSP00000384582:p.Leu2605Phe		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L2605F	ENST00000405460.2	37	c.7815	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.276292|2.276292	0.40294|0.40294	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.27557|.	1.66|.	5.88|5.88	-4.8|-4.8	0.03190|0.03190	Na-Ca exchanger/integrin-beta4 (1);|.	1.256040|.	0.05422|.	N|.	0.544355|.	T|T	0.30823|0.30823	0.0777|0.0777	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	P;P|.	0.41978|.	0.767;0.767|.	P;P|.	0.50162|.	0.633;0.633|.	T|T	0.18429|0.18429	-1.0337|-1.0337	10|5	0.12103|.	T|.	0.63|.	.|.	3.7039|3.7039	0.08392|0.08392	0.1201:0.0842:0.4196:0.376|0.1201:0.0842:0.4196:0.376	.|.	2605;2605|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	F|S	2605|171	ENSP00000384582:L2605F|.	ENSP00000296619:L2605F|.	L|W	+|+	3|2	2|0	GPR98|GPR98	90026144|90026144	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.736000|0.736000	0.42039|0.42039	-0.572000|-0.572000	0.05881|0.05881	-0.822000|-0.822000	0.04306|0.04306	0.655000|0.655000	0.94253|0.94253	TTG|TGG	GPR98	-	smart_Calx_beta	ENSG00000164199		0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	57	0	G	NM_032119		89990388	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.000	C	C	89990388	G	C	89990388	3	2	166	1	0	0	0	0	1	0	0	0	6748	1339	47	5	7945	5	GPR98	5	89990388	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09		89990388	90924872	65	41833											
LNPEP	4012	genome.wustl.edu	37	chr5	96315139	96315139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agatggggcttgttcagtacCctctgcaaggaccatggtgg	8	10	14	9	0	2	1	1	0	1	1	2	2	2	2	2	5	2	4	2	5	2	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:96315139C>T	ENST00000231368.5	+	2	1009	c.317C>T	c.(316-318)cCc>cTc	p.P106L	LNPEP_ENST00000395770.3_Missense_Mutation_p.P92L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	106					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGTTCAGTACCCTCTGCAAGG	0.488																																																	0													76	81	80					5																	96315139		2203	4300	6503	SO:0001583	missense	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.317C>T	5.37:g.96315139C>T	ENSP00000231368:p.Pro106Leu		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.P106L	ENST00000231368.5	37	c.317	CCDS4087.1	5	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559701	0.27827	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.01221	5.15;5.15	6.07	4.31	0.51392	.	0.103824	0.64402	N	0.000003	T	0.01353	0.0044	N	0.17082	0.46	0.80722	D	1	P	0.36647	0.563	B	0.36808	0.233	T	0.72070	-0.4401	10	0.37606	T	0.19	.	12.7918	0.57539	0.0:0.8667:0.0:0.1333	.	106	Q9UIQ6	LCAP_HUMAN	L	106;92	ENSP00000231368:P106L;ENSP00000379117:P92L	ENSP00000231368:P106L	P	+	2	0	LNPEP	96340895	0.996000	0.38824	0.728000	0.30774	0.260000	0.26232	2.354000	0.44098	0.916000	0.36871	-0.225000	0.12378	CCC	LNPEP	-	NULL	ENSG00000113441		0.488	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	-	0	41	0	C	NM_005575		96315139	1	tier1	-	no_errors	ENST00000231368	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	T	T	96315139	C	T	96315139	3	4	166	1	0	0	0	0	1	0	0	0	8894	623	22	3	323	3	LNPEP	5	96315139	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	6324751	96315139	84600121	66	41834											
RIOK2	55781	genome.wustl.edu	37	chr5	96512996	96512996	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgcaacaatgtaaatatCtagagacaaaatttcaaaaa	21	11	4	5	0	2	1	1	0	1	1	2	2	2	1	0	0	2	2	0	0	10	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:96512996C>T	ENST00000283109.3	-	4	391		c.e4-1		CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Splice_Site|RNU1-73P_ENST00000383971.1_RNA	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2								ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATGTAAATATCTAGAGACAAA	0.284																																																	0													81	85	84					5																	96512996		2202	4299	6501	SO:0001630	splice_region_variant	0			AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"RIO kinase 2 (yeast)"				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.323-1G>A	5.37:g.96512996C>T			D6RDI3|Q9NUT0	Splice_Site	SNP	-	e4-1	ENST00000283109.3	37	c.323-1	CCDS4089.1	5	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188998	0.57909	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1291	0.81414	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RIOK2	96538752	1.000000	0.71417	0.996000	0.52242	0.626000	0.37791	7.348000	0.79366	2.542000	0.85734	0.557000	0.71058	.	RIOK2	-	-	ENSG00000058729		0.284	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK2	HGNC	protein_coding	OTTHUMT00000250628.1	-	0	42	0	C	NM_018343	Intron	96512996	-1	tier1	-	no_errors	ENST00000283109	ensembl	human	known	74_37	splice_site	13.64	19	3	SNP	1.000	T	T	96512996	C	T	96512996	5	4	166	1	0	0	0	0	0	0	1	0	13423	927	32	3	1392	3	RIOK2	5	96512996	Splice_Site	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	197857	96512996	84402264	67	41835											
GDF9	2661	genome.wustl.edu	37	chr5	132200009	132200009	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctaggtgacccacctcGcccaacagatagaactttga	12	7	8	14	1	0	4	0	2	0	2	1	4	0	4	4	1	3	0	4	1	4	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:132200009G>T	ENST00000378673.2	-	2	1083	c.217C>A	c.(217-219)Cga>Aga	p.R73R	GDF9_ENST00000296875.2_Silent_p.R73R|UQCRQ_ENST00000378665.1_5'Flank|GDF9_ENST00000464378.1_Intron|UQCRQ_ENST00000378670.3_5'Flank|UQCRQ_ENST00000378667.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	73					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.R73*(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCCACCTCGCCCAACAGAT	0.502																																																	1	Substitution - Nonsense(1)	large_intestine(1)											105	112	110					5																	132200009		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"Endogenous ligands"	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.217C>A	5.37:g.132200009G>T			Q4VAW5	Silent	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.R73	ENST00000378673.2	37	c.217	CCDS4162.1	5																																																																																			GDF9	-	NULL	ENSG00000164404		0.502	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2		0	63	0	G	NM_005260		132200009	-1			no_errors	ENST00000296875	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.030	T	T	132200009	G	T	132200009	2	4	166	1	0	0	0	0	0	0	0	1	6345	1095	38	2		2	GDF9	5	132200009	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	35687013	132200009	48715251	68	41836											
KIF20A	10112	genome.wustl.edu	37	chr5	137517359	137517359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcacccaaggactcttttgCcctgaagagcaatgaacggg	12	7	11	11	1	1	3	0	2	1	1	1	4	1	4	2	2	4	2	2	2	4	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:137517359C>T	ENST00000394894.3	+	4	543	c.317C>T	c.(316-318)gCc>gTc	p.A106V	KIF20A_ENST00000508792.1_Missense_Mutation_p.A88V|BRD8_ENST00000254900.5_5'Flank	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	106	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			GACTCTTTTGCCCTGAAGAGC	0.473																																																	0													121	117	118					5																	137517359		2203	4300	6503	SO:0001583	missense	0			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.317C>T	5.37:g.137517359C>T	ENSP00000378356:p.Ala106Val		B4DL79|D3DQB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A106V	ENST00000394894.3	37	c.317	CCDS4199.1	5	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945819	0.73672	.	.	ENSG00000112984	ENST00000513276;ENST00000394894;ENST00000508792;ENST00000504621	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.68	5.68	0.88126	Kinesin, motor domain (4);	0.000000	0.44902	D	0.000414	T	0.72708	0.3494	N	0.21373	0.66	0.42095	D	0.99131	B;P	0.46859	0.008;0.885	B;P	0.51324	0.064;0.666	T	0.69363	-0.5165	10	0.25751	T	0.34	-15.1481	19.7852	0.96433	0.0:1.0:0.0:0.0	.	88;106	B4DL79;O95235	.;KI20A_HUMAN	V	106;106;88;106	ENSP00000422928:A106V;ENSP00000378356:A106V;ENSP00000420880:A88V;ENSP00000424056:A106V	ENSP00000378356:A106V	A	+	2	0	KIF20A	137545258	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.185000	0.50934	2.682000	0.91365	0.514000	0.50259	GCC	KIF20A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000112984		0.473	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1	-	0	80	0	C	NM_005733		137517359	1	tier1	-	no_errors	ENST00000394894	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	137517359	C	T	137517359	3	4	166	1	0	0	0	0	1	0	0	0	8313	739	26	3	327	3	KIF20A	5	137517359	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	5317350	137517359	43397901	69	41837											
ANKHD1	54882	genome.wustl.edu	37	chr5	139908479	139908479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctgtgacaagcacttGtagttccctgccttctgtct	5	17	7	12	0	4	1	0	1	4	0	5	1	5	1	2	0	2	3	2	0	2	6			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:139908479G>T	ENST00000360839.2	+	29	6102	c.5948G>T	c.(5947-5949)tGt>tTt	p.C1983F	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.C1983F|ANKHD1_ENST00000544120.1_Missense_Mutation_p.C366F|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.C1983F	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1983	Ser-rich.					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)			ACAAGCACTTGTAGTTCCCTG	0.483																																																	0													163	160	161					5																	139908479		2203	4300	6503	SO:0001583	missense	0			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.5948G>T	5.37:g.139908479G>T	ENSP00000354085:p.Cys1983Phe		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.C1983F	ENST00000360839.2	37	c.5948	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.98|12.98	2.101360|2.101360	0.37048|0.37048	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T;T|.	0.64438|.	-0.06;-0.1;1.97;1.95;1.52;-0.1|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.131415|.	0.52532|.	D|.	0.000061|.	T|T	0.45736|0.45736	0.1357|0.1357	L|L	0.36672|0.36672	1.1|1.1	0.31763|0.31763	N|N	0.63309|0.63309	P;B;P;B;B;B|.	0.40875|.	0.612;0.214;0.731;0.214;0.07;0.07|.	B;B;B;B;B;B|.	0.41088|.	0.188;0.094;0.347;0.094;0.058;0.058|.	T|T	0.52011|0.52011	-0.8632|-0.8632	10|5	0.46703|.	T|.	0.11|.	.|.	12.3442|12.3442	0.55111|0.55111	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.	366;413;366;1983;1983;1983|.	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;.;ANKH1_HUMAN|.	F|F	1983;1983;1983;639;418;505;366;1983|473;433	ENSP00000354085:C1983F;ENSP00000297183:C1983F;ENSP00000393204:C639F;ENSP00000390034:C505F;ENSP00000437687:C366F;ENSP00000432016:C1983F|.	ENSP00000432016:C1983F|.	C|L	+|+	2|3	0|2	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139888663|139888663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.056000|3.056000	0.49923|0.49923	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	TGT|TTG	ANKHD1	-	NULL	ENSG00000131503		0.483	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	-	0	44	0	G	NM_017747		139908479	1	tier1	-	no_errors	ENST00000297183	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	139908479	G	T	139908479	3	4	166	1	0	0	0	0	1	0	0	0	628	1377	48	3	6168	3	ANKHD1	5	139908479	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	2391120	139908479	41006781	70	41838											
PCDHA1	56147	genome.wustl.edu	37	chr5	140166704	140166706	+	In_Frame_Del	DEL	GTC	GTC	-																															acgaaggtgtaaatggtgaaGtcgtcttttcctttgacagt																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	GTC	GTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:140166704_140166706delGTC	ENST00000504120.2	+	1	829_831	c.829_831delGTC	c.(829-831)gtcdel	p.V278del	PCDHA1_ENST00000394633.3_In_Frame_Del_p.V278del|PCDHA1_ENST00000378133.3_In_Frame_Del_p.V278del	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	278	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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGGTGAAGTCGTCTTTTCCT	0.394																																																	0																																										SO:0001651	inframe_deletion	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.829_831delGTC	5.37:g.140166707_140166709delGTC	ENSP00000420840:p.Val278del		O75288|Q9NRT7	In_Frame_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V278in_frame_del	ENST00000504120.2	37	c.829_831	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204970		0.394	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1		0	51	0	GTC	NM_018900		140166706	1	tier1		no_errors	ENST00000504120	ensembl	human	known	74_37	in_frame_del	12.90	27	4	DEL	0.163:0.221:0.000	-	-	140166706	GTC	-	140166704	7	5	166	1	0	1	0	1	0	0	0	0	11558	1029	36	0	831	0	PCDHA1	5	140166704	In_Frame_Del	DEL	GTC	TCGA-VR-A8EU-01A-11D-A36J-09	258225	140166704	40748556	71	41839											
PCDHAC1	56135	genome.wustl.edu	37	chr5	140306538	140306538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cctgcggcgctgcagcgggaCagctcgagtactcagtgccg	6	6	15	14	5	1	0	1	0	0	0	2	2	1	1	2	2	6	4	2	2	1	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:140306538C>A	ENST00000253807.2	+	1	61	c.61C>A	c.(61-63)Cag>Aag	p.Q21K	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.Q21K|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	21	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)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGCGGGACAGCTCGAGTA	0.637																																																	0													106	125	119					5																	140306538		2203	4300	6503	SO:0001583	missense	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.61C>A	5.37:g.140306538C>A	ENSP00000253807:p.Gln21Lys		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q21K	ENST00000253807.2	37	c.61	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996863	0.93167	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.30981	1.51;1.51	5.14	5.14	0.70334	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.57829	0.2080	M	0.86502	2.82	0.31986	N	0.605267	D;B	0.59767	0.986;0.121	P;B	0.58780	0.845;0.06	T	0.70680	-0.4805	9	0.72032	D	0.01	.	16.7707	0.85536	0.0:1.0:0.0:0.0	.	21;21	Q9H158;Q9H158-2	PCDC1_HUMAN;.	K	21	ENSP00000386356:Q21K;ENSP00000253807:Q21K	ENSP00000253807:Q21K	Q	+	1	0	PCDHAC1	140286722	0.740000	0.28207	0.772000	0.31596	0.647000	0.38526	2.545000	0.45769	2.383000	0.81215	0.561000	0.74099	CAG	PCDHAC1	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000248383		0.637	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	-	0	41	0	C	NM_018898		140306538	1	tier1	-	no_errors	ENST00000253807	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	A	A	140306538	C	A	140306538	3	1	166	1	0	0	0	0	1	0	0	0	11571	479	17	3	63	3	PCDHAC1	5	140306538	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	139834	140306538	40608722	72	41840											
PCDHB4	56131	genome.wustl.edu	37	chr5	140501605	140501605	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagctagggagaattcatCcaaacaggcaagtgttggcc	14	7	12	8	0	1	2	1	0	0	2	2	3	2	2	2	3	2	3	2	3	5	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:140501605C>A	ENST00000194152.1	+	1	25	c.25C>A	c.(25-27)Cca>Aca	p.P9T	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	9					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAATTCATCCAAACAGGCA	0.468																																																	0													106	107	107					5																	140501605		2203	4300	6503	SO:0001583	missense	0			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.25C>A	5.37:g.140501605C>A	ENSP00000194152:p.Pro9Thr		Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P9T	ENST00000194152.1	37	c.25	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	C	11.36	1.617091	0.28801	.	.	ENSG00000081818	ENST00000194152	T	0.44083	0.93	4.78	2.94	0.34122	.	.	.	.	.	T	0.30324	0.0761	L	0.39898	1.24	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.24440	-1.0160	9	0.49607	T	0.09	.	3.9381	0.09314	0.3365:0.487:0.0:0.1765	.	9	Q9Y5E5	PCDB4_HUMAN	T	9	ENSP00000194152:P9T	ENSP00000194152:P9T	P	+	1	0	PCDHB4	140481789	0.000000	0.05858	0.057000	0.19452	0.977000	0.68977	-0.054000	0.11826	0.689000	0.31550	0.655000	0.94253	CCA	PCDHB4	-	NULL	ENSG00000081818		0.468	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	-	0	81	0	C	NM_018938		140501605	1	tier1	-	no_errors	ENST00000194152	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	A	A	140501605	C	A	140501605	3	1	166	1	0	0	0	0	1	0	0	0	11583	855	30	3	27	3	PCDHB4	5	140501605	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	195067	140501605	40413655	73	41841											
PCDHB13	56123	genome.wustl.edu	37	chr5	140595516	140595516	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctgtcgtaccagctgctCaaggccacggagctcggtct	6	9	13	13	3	2	0	1	0	1	0	4	1	2	1	2	4	4	5	2	4	2	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:140595516C>G	ENST00000341948.4	+	1	2008	c.1821C>G	c.(1819-1821)ctC>ctG	p.L607L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	607	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCAGCTGCTCAAGGCCACGG	0.716																																																	0													7	8	8					5																	140595516		1709	3383	5092	SO:0001819	synonymous_variant	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1821C>G	5.37:g.140595516C>G			A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L607	ENST00000341948.4	37	c.1821	CCDS4255.1	5																																																																																			PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000187372		0.716	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	-	0	69	0	C	NM_018933		140595516	1	tier1	-	no_errors	ENST00000341948	ensembl	human	known	74_37	silent	38.64	27	17	SNP	0.997	G	G	140595516	C	G	140595516	2	3	166	1	0	0	0	0	0	0	0	1	11577	813	29	5		5	PCDHB13	5	140595516	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	93911	140595516	40319744	74	41842											
PCDH1	5097	genome.wustl.edu	37	chr5	141243246	141243246	+	Frame_Shift_Del	DEL	T	T	-																															cttaccagcctggtaaccacTtttggcctcccgctgtctgc																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:141243246delT	ENST00000394536.3	-	3	2789	c.2650delA	c.(2650-2652)agtfs	p.S884fs	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Frame_Shift_Del_p.S884fs|PCDH1_ENST00000456271.1_Frame_Shift_Del_p.S872fs|PCDH1_ENST00000536585.1_Frame_Shift_Del_p.S862fs|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	884					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)		TGGTAACCACTTTTGGCCTCC	0.572																																					Ovarian(132;1609 1739 4190 14731 45037)												0													166	169	168					5																	141243246		2203	4300	6503	SO:0001589	frameshift_variant	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2650delA	5.37:g.141243246delT	ENSP00000378043:p.Ser884fs		Q8IUP2	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S884fs	ENST00000394536.3	37	c.2650	CCDS43375.1	5																																																																																			PCDH1	-	pfam_Protocadherin	ENSG00000156453		0.572	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1		0	108	0	T	NM_032420		141243246	-1	tier1		no_errors	ENST00000287008	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	1.000	-	-	141243246	T	-	141243246	7	5	166	1	0	1	0	1	0	0	0	0	11545	1609	56	0	1159	0	PCDH1	5	141243246	Frame_Shift_Del	DEL	T	TCGA-VR-A8EU-01A-11D-A36J-09	647730	141243246	39672014	75	41843											
SYCP2L	221711	genome.wustl.edu	37	chr6	10911079	10911079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtattcatttccgtgtattGctgcttttgctgatgagcat	6	19	9	7	1	1	2	1	2	0	0	2	2	2	2	1	0	4	6	1	0	2	7			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:10911079G>T	ENST00000283141.6	+	12	1191	c.895G>T	c.(895-897)Gct>Tct	p.A299S	SYCP2L_ENST00000543878.1_Missense_Mutation_p.A140S|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	299						nucleus (GO:0005634)		p.A299S(1)		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)			TCCGTGTATTGCTGCTTTTGC	0.418																																																	1	Substitution - Missense(1)	kidney(1)											284	258	267					6																	10911079		1930	4132	6062	SO:0001583	missense	0			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.895G>T	6.37:g.10911079G>T	ENSP00000283141:p.Ala299Ser		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	NULL	p.A299S	ENST00000283141.6	37	c.895	CCDS43423.1	6	.	.	.	.	.	.	.	.	.	.	G	6.401	0.442178	0.12164	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.39592	1.07;2.39	5.66	2.77	0.32553	.	0.221754	0.38272	N	0.001747	T	0.18635	0.0447	L	0.31420	0.93	0.49213	D	0.999766	P;P	0.45715	0.525;0.865	B;P	0.46585	0.116;0.521	T	0.02661	-1.1127	10	0.44086	T	0.13	-0.3115	5.8649	0.18768	0.1402:0.0:0.4763:0.3835	.	140;299	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	S	140;299	ENSP00000440676:A140S;ENSP00000283141:A299S	ENSP00000283141:A299S	A	+	1	0	SYCP2L	11019065	0.102000	0.21896	0.656000	0.29637	0.721000	0.41392	0.196000	0.17176	0.721000	0.32231	0.591000	0.81541	GCT	SYCP2L	-	NULL	ENSG00000153157		0.418	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3		0	62	0	G	NM_194299		10911079	1			no_errors	ENST00000283141	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.136	T	T	10911079	G	T	10911079	3	4	166	1	0	0	0	0	1	0	0	0	15480	1319	46	3	941	3	SYCP2L	6	10911079	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09		10911079	160203988	76	41844											
SCUBE3	222663	genome.wustl.edu	37	chr6	35216380	35216380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggtgctagcccacccccaGaactacttcaagtacacaga	13	6	8	14	0	1	2	1	0	0	2	1	3	1	2	3	1	5	2	3	1	5	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:35216380G>C	ENST00000274938.7	+	22	2880	c.2880G>C	c.(2878-2880)caG>caC	p.Q960H	SCUBE3_ENST00000394681.1_Missense_Mutation_p.Q976H	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						CCCACCCCCAGAACTACTTCA	0.522																																																	0													146	138	141					6																	35216380		2203	4300	6503	SO:0001583	missense	0			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.2880G>C	6.37:g.35216380G>C	ENSP00000274938:p.Gln960His			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.Q976H	ENST00000274938.7	37	c.2928	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902734	0.33628	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;D	0.83250	-1.27;-1.7	5.7	1.6	0.23607	.	0.165950	0.56097	D	0.000040	T	0.49795	0.1578	N	0.12182	0.205	0.41367	D	0.987466	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.50524	-0.8818	10	0.52906	T	0.07	.	7.4316	0.27131	0.208:0.1191:0.6728:0.0	.	976;960	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	H	976;960	ENSP00000378174:Q976H;ENSP00000274938:Q960H	ENSP00000274938:Q960H	Q	+	3	2	SCUBE3	35324358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.007000	0.40883	0.752000	0.32923	0.655000	0.94253	CAG	SCUBE3	-	NULL	ENSG00000146197		0.522	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1		0	68	0	G	NM_152753		35216380	1			no_errors	ENST00000394681	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	C	C	35216380	G	C	35216380	3	2	166	1	0	0	0	0	1	0	0	0	13991	933	33	5	2966	5	SCUBE3	6	35216380	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	24305301	35216380	135898687	77	41845											
CRISP3	10321	genome.wustl.edu	37	chr6	49703265	49703265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgtaattgcactggtttgCccacttttgggcatttgctg	5	17	10	9	0	1	0	0	0	1	0	1	0	1	0	1	2	3	5	1	2	1	6			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:49703265C>T	ENST00000393666.1	-	3	235	c.229G>A	c.(229-231)Gca>Aca	p.A77T	CRISP3_ENST00000371159.4_Missense_Mutation_p.A108T|CRISP3_ENST00000433368.2_Missense_Mutation_p.A100T|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000263045.4_Missense_Mutation_p.A90T			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	77	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CACTGGTTTGCCCACTTTTGG	0.358																																																	0													159	148	152					6																	49703265		2203	4300	6503	SO:0001583	missense	0			X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.229G>A	6.37:g.49703265C>T	ENSP00000377274:p.Ala77Thr		A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.A100T	ENST00000393666.1	37	c.298		6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011077	0.75046	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000371159;ENST00000354620	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	4.79	4.79	0.61399	CAP domain (3);	0.291142	0.25723	U	0.028726	T	0.44932	0.1317	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59595	-0.7425	10	0.66056	D	0.02	.	13.3066	0.60355	0.0:1.0:0.0:0.0	.	77	P54108	CRIS3_HUMAN	T	90;100;77;108;100	ENSP00000263045:A90T;ENSP00000389026:A100T;ENSP00000377274:A77T;ENSP00000360201:A108T;ENSP00000346636:A100T	ENSP00000263045:A90T	A	-	1	0	CRISP3	49811224	1.000000	0.71417	0.874000	0.34290	0.665000	0.39181	3.056000	0.49923	2.190000	0.69967	0.462000	0.41574	GCA	CRISP3	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000096006		0.358	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	CRISP3	HGNC	protein_coding		-	0	71	0	C	NM_006061		49703265	-1	tier1	-	no_errors	ENST00000433368	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.998	T	T	49703265	C	T	49703265	3	4	166	1	0	0	0	0	1	0	0	0	3888	739	26	3	528	3	CRISP3	6	49703265	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	14486885	49703265	121411802	78	41846											
HCRTR2	3062	genome.wustl.edu	37	chr6	55142277	55142277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacgaagtcccggatgagcGctgtggcggctgaaataaag	12	6	14	9	4	0	2	0	2	0	0	1	4	1	3	1	3	2	2	1	3	5	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:55142277G>A	ENST00000370862.3	+	5	1198	c.862G>A	c.(862-864)Gct>Act	p.A288T		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	288					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)			CCGGATGAGCGCTGTGGCGGC	0.502																																																	0													69	73	72					6																	55142277		2203	4300	6503	SO:0001583	missense	0			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.862G>A	6.37:g.55142277G>A	ENSP00000359899:p.Ala288Thr		Q5VTM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.A288T	ENST00000370862.3	37	c.862	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911082	0.52439	.	.	ENSG00000137252	ENST00000370862	T	0.61980	0.06	6.06	6.06	0.98353	GPCR, rhodopsin-like superfamily (1);	0.049683	0.85682	D	0.000000	T	0.34279	0.0892	N	0.13168	0.305	0.53688	D	0.999975	B	0.20550	0.046	B	0.18561	0.022	T	0.17623	-1.0363	10	0.22706	T	0.39	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	288	O43614	OX2R_HUMAN	T	288	ENSP00000359899:A288T	ENSP00000359899:A288T	A	+	1	0	HCRTR2	55250236	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.974000	0.63771	2.880000	0.98712	0.650000	0.86243	GCT	HCRTR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt	ENSG00000137252		0.502	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	-	0	89	0	G			55142277	1	tier1	-	no_errors	ENST00000370862	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	A	A	55142277	G	A	55142277	3	1	166	1	0	0	0	0	1	0	0	0	7029	1087	38	1	880	1	HCRTR2	6	55142277	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	5439012	55142277	115972790	79	41847											
COL19A1	1310	genome.wustl.edu	37	chr6	70866605	70866605	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgggatacctggggagaAaggcgatgaggtaacagatt	12	7	15	7	1	0	3	0	1	0	2	0	6	0	4	2	5	2	1	2	5	3	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:70866605A>T	ENST00000322773.4	+	34	2384	c.2282A>T	c.(2281-2283)aAa>aTa	p.K761I	COL19A1_ENST00000393344.1_Missense_Mutation_p.K383I	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	761	Collagen-like 7.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTGGGGAGAAAGGCGATGAG	0.378																																																	0													80	84	82					6																	70866605		2203	4300	6503	SO:0001583	missense	0				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.2282A>T	6.37:g.70866605A>T	ENSP00000316030:p.Lys761Ile		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.K761I	ENST00000322773.4	37	c.2282	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	A	15.63	2.891044	0.52014	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93859	-3.3;-3.3	5.59	5.59	0.84812	.	0.131383	0.47455	D	0.000229	D	0.96439	0.8838	M	0.87381	2.88	0.48901	D	0.999727	D	0.89917	1.0	D	0.91635	0.999	D	0.96542	0.9401	10	0.51188	T	0.08	.	14.3399	0.66619	1.0:0.0:0.0:0.0	.	761	Q14993	COJA1_HUMAN	I	761;383	ENSP00000316030:K761I;ENSP00000377013:K383I	ENSP00000316030:K761I	K	+	2	0	COL19A1	70923326	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	4.451000	0.60047	2.134000	0.65973	0.533000	0.62120	AAA	COL19A1	-	pfam_Collagen	ENSG00000082293		0.378	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	-	0	91	0	A			70866605	1	tier1	-	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	T	T	70866605	A	T	70866605	3	4	166	1	0	0	0	0	1	0	0	0	3683	14	1	5	2412	5	COL19A1	6	70866605	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	15724328	70866605	100248462	80	41848											
COL9A1	1297	genome.wustl.edu	37	chr6	71011706	71011706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaactatggcccttactgGggcgacgcttgacagctgca	10	8	12	11	2	0	2	0	1	0	1	0	3	0	2	1	3	4	3	1	3	3	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:71011706G>A	ENST00000357250.6	-	2	244	c.86C>T	c.(85-87)cCc>cTc	p.P29L	COL9A1_ENST00000370496.3_Missense_Mutation_p.P29L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	29	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						GCCCTTACTGGGGCGACGCTT	0.458																																																	0													40	41	41					6																	71011706		2203	4300	6503	SO:0001583	missense	0				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.86C>T	6.37:g.71011706G>A	ENSP00000349790:p.Pro29Leu		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.P29L	ENST00000357250.6	37	c.86	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215107	0.58452	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	D;D	0.90844	-2.4;-2.74	6.07	5.16	0.70880	.	0.359580	0.27558	N	0.018839	T	0.79173	0.4401	N	0.24115	0.695	0.80722	D	1	B	0.24258	0.1	B	0.21708	0.036	T	0.74359	-0.3691	10	0.32370	T	0.25	.	17.4183	0.87507	0.0:0.134:0.866:0.0	.	29	P20849	CO9A1_HUMAN	L	29	ENSP00000349790:P29L;ENSP00000359527:P29L	ENSP00000349790:P29L	P	-	2	0	COL9A1	71068427	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.592000	0.53993	2.884000	0.98904	0.655000	0.94253	CCC	COL9A1	-	NULL	ENSG00000112280		0.458	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2		0	59	0	G			71011706	-1			no_errors	ENST00000357250	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.999	A	A	71011706	G	A	71011706	3	1	166	1	0	0	0	0	1	0	0	0	3714	1232	43	3	2903	3	COL9A1	6	71011706	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	145101	71011706	100103361	81	41849											
MICAL1	64780	genome.wustl.edu	37	chr6	109769427	109769428	+	Frame_Shift_Ins	INS	-	-	C																															gggctgtgggccatgctcttINSgaaggcactgtggaagtggc																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:109769427_109769428insC	ENST00000358807.3	-	13	2144_2145	c.1833_1834insG	c.(1831-1836)ttcaagfs	p.K612fs	MICAL1_ENST00000358577.3_Frame_Shift_Ins_p.K526fs|MICAL1_ENST00000368952.4_Frame_Shift_Ins_p.K631fs	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	612					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)		GCCATGCTCTTGAAGGCACTGT	0.599																																																	0																																										SO:0001589	frameshift_variant	0			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.1833_1834insG	6.37:g.109769427_109769428insC	ENSP00000351664:p.Lys612fs		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Frame_Shift_Ins	INS	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.K630fs	ENST00000358807.3	37	c.1891_1890	CCDS5076.1	6																																																																																			MICAL1	-	superfamily_CH-domain	ENSG00000135596		0.599	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2		0	60	0	-	NM_022765		109769428	-1	tier1		no_errors	ENST00000368952	ensembl	human	known	74_37	frame_shift_ins	10.00	18	2	INS	0.947:1.000	C	C	109769428	-	C	109769427	7	5	166	1	0	1	1	0	0	0	0	0	9607	1821	63	0	1421	0	MICAL1	6	109769427	Frame_Shift_Ins	INS	-	TCGA-VR-A8EU-01A-11D-A36J-09	38757721	109769427	61345640	82	41850											
CLVS2	134829	genome.wustl.edu	37	chr6	123332263	123332263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaagcaagcctctaaaCtcacaccaagtatgctgcga	13	9	6	13	1	3	0	2	0	1	0	3	1	3	0	2	0	5	3	2	0	6	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:123332263C>T	ENST00000275162.5	+	3	1858	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	CLVS2_ENST00000368438.1_Missense_Mutation_p.L29F	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	175	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AGCCTCTAAACTCACACCAAG	0.403																																																	0													121	106	111					6																	123332263		2203	4300	6503	SO:0001583	missense	0			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.523C>T	6.37:g.123332263C>T	ENSP00000275162:p.Leu175Phe		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.L175F	ENST00000275162.5	37	c.523	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956896	0.73902	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	D;D	0.84516	-1.86;-1.86	5.07	5.07	0.68467	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.063697	0.64402	D	0.000004	D	0.83801	0.5333	L	0.33245	0.995	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	T	0.79212	-0.1896	10	0.11485	T	0.65	4.8856	18.6278	0.91347	0.0:1.0:0.0:0.0	.	175	Q5SYC1	CLVS2_HUMAN	F	175;29	ENSP00000275162:L175F;ENSP00000357423:L29F	ENSP00000275162:L175F	L	+	1	0	CLVS2	123373962	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	5.854000	0.69503	2.625000	0.88918	0.585000	0.79938	CTC	CLVS2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000146352		0.403	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	-	0	81	0	C	NM_001010852		123332263	1	tier1	-	no_errors	ENST00000275162	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	123332263	C	T	123332263	3	4	166	1	0	0	0	0	1	0	0	0	3579	565	20	3	529	3	CLVS2	6	123332263	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	13562836	123332263	47782804	83	41851											
ARHGAP18	93663	genome.wustl.edu	37	chr6	129955223	129955223	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tttgttttcatttgttctaaGtgactgcgattcagtgccac	7	18	8	8	1	3	1	2	1	1	0	3	2	3	1	1	0	2	2	1	0	1	7			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:129955223G>T	ENST00000368149.2	-	4	668	c.580C>A	c.(580-582)Ctt>Att	p.L194I		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)		TTTGTTCTAAGTGACTGCGAT	0.358																																																	0													120	108	113					6																	129955223		2203	4300	6503	SO:0001583	missense	0			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.580C>A	6.37:g.129955223G>T	ENSP00000357131:p.Leu194Ile			Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L194I	ENST00000368149.2	37	c.580	CCDS34535.1	6	.	.	.	.	.	.	.	.	.	.	G	5.569	0.289807	0.10567	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.32	4.45	0.53987	.	1.190930	0.05889	N	0.627959	T	0.17492	0.0420	N	0.19112	0.55	0.20926	N	0.999826	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.27971	-1.0058	8	.	.	.	.	14.1488	0.65367	0.0:0.8427:0.1573:0.0	.	194;194	A9UK01;Q8N392	.;RHG18_HUMAN	I	149;194	.	.	L	-	1	0	ARHGAP18	129996916	0.627000	0.27129	0.891000	0.34965	0.297000	0.27493	1.226000	0.32563	1.375000	0.46248	-0.171000	0.13296	CTT	ARHGAP18	-	NULL	ENSG00000146376		0.358	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	HGNC	protein_coding	OTTHUMT00000042185.2	-	0	131	0	G	NM_033515		129955223	-1	tier1	-	no_errors	ENST00000368149	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.938	T	T	129955223	G	T	129955223	3	4	166	1	0	0	0	0	1	0	0	0	868	1029	36	3	1459	3	ARHGAP18	6	129955223	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	6622960	129955223	41159844	84	41852											
UTRN	7402	genome.wustl.edu	37	chr6	144843168	144843168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgcttctggaattagatCatcacttcttcctacagatt	10	16	5	10	0	4	2	2	0	2	2	5	3	5	3	1	1	2	1	1	1	3	7	rs138139861		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:144843168C>T	ENST00000367545.3	+	39	5594	c.5594C>T	c.(5593-5595)tCa>tTa	p.S1865L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1865					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)		GGAATTAGATCATCACTTCTT	0.313																																																	0								C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	131	140	137		5594	4.8	0	6	dbSNP_134	137	0,8600		0,0,4300	no	missense	UTRN	NM_007124.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1865/3434	144843168	1,13005	2203	4300	6503	SO:0001583	missense	0			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.5594C>T	6.37:g.144843168C>T	ENSP00000356515:p.Ser1865Leu		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.S1865L	ENST00000367545.3	37	c.5594	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	7.253	0.603641	0.14002	2.27E-4	0.0	ENSG00000152818	ENST00000367545	T	0.60797	0.16	5.7	4.84	0.62591	.	1.482540	0.04330	N	0.352155	T	0.35653	0.0939	L	0.51422	1.61	0.58432	D	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.20505	-1.0273	10	0.09843	T	0.71	.	14.6139	0.68534	0.0:0.93:0.0:0.07	.	1865	P46939	UTRO_HUMAN	L	1865	ENSP00000356515:S1865L	ENSP00000356515:S1865L	S	+	2	0	UTRN	144884861	0.072000	0.21174	0.004000	0.12327	0.226000	0.24999	2.795000	0.47861	1.423000	0.47198	0.561000	0.74099	TCA	UTRN	-	pirsf_Dystrophin/utrophin	ENSG00000152818		0.313	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	-	0	86	0	C			144843168	1	tier1	rs138139861	no_errors	ENST00000367545	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.026	T	T	144843168	C	T	144843168	3	4	166	1	0	0	0	0	1	0	0	0	17152	838	29	3	5748	3	UTRN	6	144843168	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	14887945	144843168	26271899	85	41853											
ULBP1	80329	genome.wustl.edu	37	chr6	150290442	150290442	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatttcactgggggattgtAagatgtggcttgaagaattt	11	14	13	3	0	1	4	1	1	0	3	1	5	1	5	0	3	0	2	0	3	3	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:150290442A>G	ENST00000229708.3	+	3	614	c.571A>G	c.(571-573)Aag>Gag	p.K191E		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	191	MHC class I alpha-2 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)		GGGGGATTGTAAGATGTGGCT	0.453																																																	0													100	102	101					6																	150290442		2203	4300	6503	SO:0001583	missense	0			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.571A>G	6.37:g.150290442A>G	ENSP00000229708:p.Lys191Glu		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.K191E	ENST00000229708.3	37	c.571	CCDS5223.1	6	.	.	.	.	.	.	.	.	.	.	a	10.70	1.425039	0.25639	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.61158	0.13;0.13	2.13	-2.73	0.05950	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	0.30070	0.0753	L	0.46157	1.445	0.09310	N	1	P	0.39551	0.678	P	0.46299	0.511	T	0.37526	-0.9702	9	0.72032	D	0.01	.	0.1821	0.00124	0.364:0.2387:0.163:0.2343	.	191	Q9BZM6	N2DL1_HUMAN	E	191	ENSP00000356314:K191E;ENSP00000229708:K191E	ENSP00000229708:K191E	K	+	1	0	ULBP1	150332135	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.614000	0.05604	-0.590000	0.05866	0.164000	0.16699	AAG	ULBP1	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000111981		0.453	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP1	HGNC	protein_coding	OTTHUMT00000042677.2	-	0	65	0	A			150290442	1	tier1	-	no_errors	ENST00000229708	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.000	G	G	150290442	A	G	150290442	3	3	166	1	0	0	0	0	1	0	0	0	17021	363	13	4	581	4	ULBP1	6	150290442	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	5447274	150290442	20824625	86	41854											
THBS2	7058	genome.wustl.edu	37	chr6	169622427	169622427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcctcccagtaggtctgCgtcacctgcttccacatcac	6	11	8	16	1	3	0	2	0	1	0	6	0	6	0	4	2	2	2	4	2	1	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:169622427C>T	ENST00000366787.3	-	20	3387	c.3138G>A	c.(3136-3138)acG>acA	p.T1046T	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1046	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGTAGGTCTGCGTCACCTGCT	0.602																																					Esophageal Squamous(91;219 1934 18562 44706)												0													65	56	59					6																	169622427		2202	4300	6502	SO:0001819	synonymous_variant	0				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.3138G>A	6.37:g.169622427C>T			A6H8N1|A7E232|Q5RI52	Silent	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.T1046	ENST00000366787.3	37	c.3138	CCDS34574.1	6																																																																																			THBS2	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf	ENSG00000186340		0.602	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	-	0	63	0	C	NM_003247		169622427	-1	tier1	-	no_errors	ENST00000366787	ensembl	human	known	74_37	silent	47.62	22	20	SNP	0.064	T	T	169622427	C	T	169622427	2	4	166	1	0	0	0	0	0	0	0	1	15901	755	27	1		1	THBS2	6	169622427	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	19331985	169622427	1492640	87	41855											
COX19	90639	genome.wustl.edu	37	chr7	1009024	1009024	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcatcaaaattcatttttttGcctctgattttccactagtc	9	19	3	10	0	4	1	3	1	1	0	6	1	5	1	2	0	1	0	2	0	3	7			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:1009024G>T	ENST00000344111.3	-	3	352	c.263C>A	c.(262-264)gCa>gAa	p.A88E		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	88						cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		TCATTTTTTTGCCTCTGATTT	0.478																																																	0													255	293	280					7																	1009024		2203	4300	6503	SO:0001583	missense	0			AY957566	CCDS34582.1	7p22.3	2012-10-15	2012-10-15		ENSG00000240230	ENSG00000240230		"Mitochondrial respiratory chain complex assembly factors"	28074	protein-coding gene	gene with protein product		610429	"COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)"			15596615, 16212937	Standard	NM_001031617		Approved	MGC104475	uc003sjp.1	Q49B96	OTTHUMG00000151476	ENST00000344111.3:c.263C>A	7.37:g.1009024G>T	ENSP00000342015:p.Ala88Glu		A4FTX0	Missense_Mutation	SNP	pfam_CHCH,superfamily_Cys_alpha_HP_mot_SF	p.A88E	ENST00000344111.3	37	c.263	CCDS34582.1	7	.	.	.	.	.	.	.	.	.	.	G	1.843	-0.466880	0.04476	.	.	ENSG00000240230	ENST00000344111	.	.	.	4.03	4.03	0.46877	.	0.849423	0.10326	N	0.688137	T	0.17662	0.0424	.	.	.	0.09310	N	1	B	0.26635	0.155	B	0.27608	0.081	T	0.03993	-1.0986	8	0.02654	T	1	-0.7089	12.4047	0.55432	0.0:0.0:1.0:0.0	.	88	Q49B96	COX19_HUMAN	E	88	.	ENSP00000342015:A88E	A	-	2	0	COX19	975550	0.958000	0.32768	0.003000	0.11579	0.864000	0.49448	2.277000	0.43417	2.191000	0.70037	0.555000	0.69702	GCA	COX19	-	NULL	ENSG00000240230		0.478	COX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX19	HGNC	protein_coding	OTTHUMT00000322812.1		0	51	0	G	NM_001031617		1009024	-1			no_errors	ENST00000344111	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.011	T	T	1009024	G	T	1009024	3	4	166	1	0	0	0	0	1	0	0	0	3775	1319	46	3	13	3	COX19	7	1009024	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09		1009024	158129639	88	41856											
DNAH11	8701	genome.wustl.edu	37	chr7	21584746	21584746	+	Missense_Mutation	SNP	T	T	A	0	1	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	cctgcgttgtctcttggacaTgtatctgctttccttgatga	5	17	9	10	1	2	2	0	2	2	0	4	3	3	3	2	1	2	3	2	1	1	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:21584746T>A	ENST00000409508.3	+	2	505	c.474T>A	c.(472-474)caT>caA	p.H158Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.H158Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	158	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTTGGACATGTATCTGCTT	0.338									Kartagener syndrome																																								0													74	70	71					7																	21584746		1839	4090	5929	SO:0001583	missense	0	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.474T>A	7.37:g.21584746T>A	ENSP00000475939:p.His158Gln		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.H158Q	ENST00000409508.3	37	c.474		7	.	.	.	.	.	.	.	.	.	.	T	0.065	-1.213919	0.01555	.	.	ENSG00000105877	ENST00000328843	T	0.21543	2.0	5.6	1.94	0.25998	.	0.414073	0.27176	N	0.020572	T	0.10165	0.0249	N	0.13235	0.315	0.30027	N	0.813801	B	0.06786	0.001	B	0.09377	0.004	T	0.23833	-1.0177	10	0.22109	T	0.4	.	7.2824	0.26318	0.0:0.2558:0.0:0.7442	.	158	Q96DT5	DYH11_HUMAN	Q	158	ENSP00000330671:H158Q	ENSP00000330671:H158Q	H	+	3	2	DNAH11	21551271	0.956000	0.32656	0.939000	0.37840	0.232000	0.25224	-0.068000	0.11561	0.160000	0.19432	0.533000	0.62120	CAT	DNAH11	-	NULL	ENSG00000105877		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	69	0	T	NM_003777		21584746	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	20.41	39	10	SNP	0.863	A	A	21584746	T	A	21584746	3	1	166	1	0	0	0	0	1	0	0	0	4613	1461	51	5	480	5	DNAH11	7	21584746	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	20575722	21584746	137553917	89	41857											
PKD1L1	168507	genome.wustl.edu	37	chr7	47921601	47921601	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcctgcagacagggaGgggtccaccaggttatcccc	7	7	13	14	0	1	1	0	0	1	1	3	2	3	2	5	4	2	3	5	4	1	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:47921601G>T	ENST00000289672.2	-	20	3398	c.3348C>A	c.(3346-3348)ccC>ccA	p.P1116P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1116	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGACAGGGAGGGGTCCACCA	0.562																																																	0													80	71	74					7																	47921601		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3348C>A	7.37:g.47921601G>T			Q6UWK1	Silent	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.P1116	ENST00000289672.2	37	c.3348	CCDS34633.1	7																																																																																			PKD1L1	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000158683		0.562	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1		0	55	0	G	NM_138295		47921601	-1			no_errors	ENST00000289672	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.009	T	T	47921601	G	T	47921601	2	4	166	1	0	0	0	0	0	0	0	1	12003	987	35	3		3	PKD1L1	7	47921601	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	26336855	47921601	111217062	90	41858											
ABCA13	154664	genome.wustl.edu	37	chr7	48259050	48259050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaattcatggaatgatGgacaaggcaaaaaacttaaa	20	7	10	4	0	1	1	1	1	0	0	1	5	1	4	0	4	1	1	0	4	8	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:48259050G>A	ENST00000435803.1	+	4	411	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	129					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						ATGGAATGATGGACAAGGCAA	0.428																																																	0													117	111	113					7																	48259050		1856	4100	5956	SO:0001583	missense	0			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.387G>A	7.37:g.48259050G>A	ENSP00000411096:p.Met129Ile		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.M129I	ENST00000435803.1	37	c.387	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059672	0.36373	.	.	ENSG00000179869	ENST00000435803	D	0.85629	-2.01	5.58	4.68	0.58851	.	0.499030	0.18142	N	0.150374	T	0.80160	0.4572	L	0.56769	1.78	0.80722	D	1	B;P	0.39022	0.278;0.655	B;B	0.31191	0.051;0.125	T	0.79685	-0.1700	10	0.48119	T	0.1	.	11.9014	0.52687	0.0:0.0:0.814:0.1859	.	129;129	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	I	129	ENSP00000411096:M129I	ENSP00000409268:M129I	M	+	3	0	ABCA13	48229596	0.975000	0.34042	0.846000	0.33378	0.319000	0.28217	1.549000	0.36212	1.447000	0.47661	0.655000	0.94253	ATG	ABCA13	-	NULL	ENSG00000179869		0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	94	0	G	NM_152701		48259050	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.983	A	A	48259050	G	A	48259050	3	1	166	1	0	0	0	0	1	0	0	0	31	1348	47	3	230	3	ABCA13	7	48259050	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	337449	48259050	110879613	91	41859											
ABCA13	154664	genome.wustl.edu	37	chr7	48654945	48654945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacggcagcttcaaatgtCttggttctcctcagcacatc	9	13	7	12	1	4	0	2	0	2	0	6	0	4	0	1	2	3	4	1	2	2	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:48654945C>A	ENST00000435803.1	+	59	14833	c.14809C>A	c.(14809-14811)Ctt>Att	p.L4937I	ABCA13_ENST00000544596.1_Missense_Mutation_p.L667I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4937	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						CTTCAAATGTCTTGGTTCTCC	0.408																																																	0													87	88	88					7																	48654945		1924	4142	6066	SO:0001583	missense	0			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.14809C>A	7.37:g.48654945C>A	ENSP00000411096:p.Leu4937Ile		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L4937I	ENST00000435803.1	37	c.14809	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026793	0.54683	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.98296	-4.85;-4.85;-4.85	5.99	5.11	0.69529	ABC transporter-like (1);	0.000000	0.45867	D	0.000329	D	0.95023	0.8389	N	0.03238	-0.38	0.47037	D	0.999299	B;P;B	0.48089	0.079;0.905;0.287	B;P;B	0.49752	0.029;0.621;0.162	D	0.95090	0.8221	10	0.32370	T	0.25	.	15.1816	0.72962	0.0:0.8584:0.1416:0.0	.	667;2639;4937	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	I	4937;710;667	ENSP00000411096:L4937I;ENSP00000391042:L710I;ENSP00000442634:L667I	ENSP00000391042:L710I	L	+	1	0	ABCA13	48625491	1.000000	0.71417	0.950000	0.38849	0.903000	0.53119	4.278000	0.58946	1.538000	0.49270	-0.150000	0.13652	CTT	ABCA13	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000179869		0.408	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	74	0	C	NM_152701		48654945	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	A	A	48654945	C	A	48654945	3	1	166	1	0	0	0	0	1	0	0	0	31	913	32	3	14872	3	ABCA13	7	48654945	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	395895	48654945	110483718	92	41860											
BCL7B	9275	genome.wustl.edu	37	chr7	72951689	72951689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagaagcgcttcaggggcGgggcacctgagtcttcctct	7	8	13	13	2	3	2	1	1	2	1	4	2	4	2	2	4	1	2	2	4	1	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:72951689G>A	ENST00000223368.2	-	6	971	c.548C>T	c.(547-549)cCg>cTg	p.P183L	BCL7B_ENST00000411832.1_Missense_Mutation_p.P126L|BCL7B_ENST00000482231.1_5'UTR	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	183							actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTCAGGGGCGGGGCACCTGA	0.632																																																	0													64	66	65					7																	72951689		2203	4300	6503	SO:0001583	missense	0			X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.548C>T	7.37:g.72951689G>A	ENSP00000223368:p.Pro183Leu		A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	Missense_Mutation	SNP	pfam_BCL7	p.P183L	ENST00000223368.2	37	c.548	CCDS5550.1	7	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450648	0.84101	.	.	ENSG00000106635	ENST00000223368;ENST00000411832	T	0.68181	-0.31	5.13	5.13	0.70059	.	0.104399	0.64402	D	0.000003	T	0.78375	0.4273	L	0.60455	1.87	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.79843	-0.1632	10	0.87932	D	0	.	13.9553	0.64144	0.0:0.0:1.0:0.0	.	126;183	C9JWD3;Q9BQE9	.;BCL7B_HUMAN	L	183;126	ENSP00000223368:P183L	ENSP00000223368:P183L	P	-	2	0	BCL7B	72589625	1.000000	0.71417	0.913000	0.36048	0.962000	0.63368	5.544000	0.67231	2.668000	0.90789	0.549000	0.68633	CCG	BCL7B	-	NULL	ENSG00000106635		0.632	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL7B	HGNC	protein_coding	OTTHUMT00000252194.1	-	0	41	0	G	NM_001707		72951689	-1	tier1	-	no_errors	ENST00000223368	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.961	A	A	72951689	G	A	72951689	3	1	166	1	0	0	0	0	1	0	0	0	1380	1116	39	1	64	1	BCL7B	7	72951689	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	24296744	72951689	86186974	93	41861											
PON1	5444	genome.wustl.edu	37	chr7	94935642	94935642	+	Missense_Mutation	SNP	A	A	C	1	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	gcatgcttttcatacacatgAatcttatgagccagcaactc	12	12	6	11	0	2	2	1	2	1	0	3	2	2	2	1	0	5	3	1	0	4	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:94935642A>C	ENST00000222381.3	-	7	966	c.735T>G	c.(733-735)atT>atG	p.I245M	PON1_ENST00000542556.1_Missense_Mutation_p.I245M	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	245					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	CATACACATGAATCTTATGAG	0.338																																					GBM(119;715 1622 17358 22490 33240)												0													146	144	145					7																	94935642		2203	4300	6503	SO:0001583	missense	0			AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"Paraoxonases"	9204	protein-coding gene	gene with protein product	"esterase A", "arylesterase 1"	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.735T>G	7.37:g.94935642A>C	ENSP00000222381:p.Ile245Met		B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1	p.I245M	ENST00000222381.3	37	c.735	CCDS5638.1	7	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096284	0.56075	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.58797	0.31;0.31	4.95	2.52	0.30459	Six-bladed beta-propeller, TolB-like (1);	0.163360	0.56097	D	0.000038	T	0.78375	0.4273	M	0.93507	3.425	0.46478	D	0.999066	D;D	0.71674	0.995;0.998	D;D	0.74023	0.967;0.982	T	0.78994	-0.1984	10	0.87932	D	0	-24.9772	8.6423	0.33985	0.7552:0.0:0.2448:0.0	.	245;245	F5H4W9;P27169	.;PON1_HUMAN	M	245	ENSP00000222381:I245M;ENSP00000444854:I245M	ENSP00000222381:I245M	I	-	3	3	PON1	94773578	0.914000	0.31030	1.000000	0.80357	0.998000	0.95712	-0.064000	0.11636	0.440000	0.26502	0.459000	0.35465	ATT	PON1	-	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase	ENSG00000005421		0.338	PON1-001	KNOWN	basic|CCDS	protein_coding	PON1	HGNC	protein_coding	OTTHUMT00000332865.2	-	0	74	0	A	NM_000446		94935642	-1	tier1	-	no_errors	ENST00000222381	ensembl	human	known	74_37	missense	12.96	47	7	SNP	1.000	C	C	94935642	A	C	94935642	3	2	166	1	0	0	0	0	1	0	0	0	12287	242	9	4	344	4	PON1	7	94935642	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	21983953	94935642	64203021	94	41862											
MUC17	140453	genome.wustl.edu	37	chr7	100685536	100685536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccacttctactcagagCaattctactcctacacctcc	10	11	4	16	0	3	2	1	1	2	1	5	2	5	2	4	0	4	1	4	0	4	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:100685536C>A	ENST00000306151.4	+	3	10903	c.10839C>A	c.(10837-10839)agC>agA	p.S3613R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3613	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)					CTACTCAGAGCAATTCTACTC	0.488																																																	0													147	139	142					7																	100685536		2203	4300	6503	SO:0001583	missense	0			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.10839C>A	7.37:g.100685536C>A	ENSP00000302716:p.Ser3613Arg		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S3613R	ENST00000306151.4	37	c.10839	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	5.457	0.269454	0.10349	.	.	ENSG00000169876	ENST00000306151	T	0.02301	4.35	1.78	-0.869	0.10649	.	.	.	.	.	T	0.01905	0.0060	N	0.08118	0	0.09310	N	1	P	0.39940	0.696	P	0.51487	0.671	T	0.47005	-0.9150	9	0.15499	T	0.54	.	3.1402	0.06453	0.0:0.4347:0.224:0.3413	.	3613	Q685J3	MUC17_HUMAN	R	3613	ENSP00000302716:S3613R	ENSP00000302716:S3613R	S	+	3	2	MUC17	100472256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.786000	0.01766	-0.010000	0.14271	-1.101000	0.02118	AGC	MUC17	-	NULL	ENSG00000169876		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	60	0	C	NM_001040105		100685536	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	57.83	35	48	SNP	0.000	A	A	100685536	C	A	100685536	3	1	166	1	0	0	0	0	1	0	0	0	10012	709	25	3	10849	3	MUC17	7	100685536	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	5749894	100685536	58453127	95	41863											
ARMC10	83787	genome.wustl.edu	37	chr7	102716296	102716296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagacgggaggtacctGggagtcacagtggtccaaga	10	6	15	10	1	2	2	2	0	0	2	3	4	3	4	3	4	1	1	3	4	2	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:102716296G>T	ENST00000323716.3	+	2	604	c.212G>T	c.(211-213)tGg>tTg	p.W71L	FBXL13_ENST00000379306.3_5'Flank|FBXL13_ENST00000379305.3_5'Flank|FBXL13_ENST00000313221.4_5'Flank|FBXL13_ENST00000455112.2_5'Flank|FBXL13_ENST00000456695.1_5'Flank|FBXL13_ENST00000471074.1_5'Flank|FBXL13_ENST00000393772.2_5'Flank|ARMC10_ENST00000454559.1_Intron|ARMC10_ENST00000441711.2_Intron|ARMC10_ENST00000541300.1_Intron|FBXL13_ENST00000379308.3_5'Flank|ARMC10_ENST00000428183.2_Missense_Mutation_p.W71L|ARMC10_ENST00000425331.1_Intron	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	71					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						GGAGGTACCTGGGAGTCACAG	0.592																																																	0													70	63	65					7																	102716296		2203	4300	6503	SO:0001583	missense	0			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.212G>T	7.37:g.102716296G>T	ENSP00000319412:p.Trp71Leu		A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.W71L	ENST00000323716.3	37	c.212	CCDS5728.1	7	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806671	0.31961	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000434153	T;T	0.42900	1.05;0.96	3.03	-4.12	0.03916	.	5.839930	0.00397	N	0.000052	T	0.23965	0.0580	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09975	-1.0650	10	0.27785	T	0.31	.	5.7924	0.18367	0.0:0.2278:0.522:0.2502	.	71;71	Q8N2F6-3;Q8N2F6	.;ARM10_HUMAN	L	71	ENSP00000319412:W71L;ENSP00000398201:W71L	ENSP00000319412:W71L	W	+	2	0	ARMC10	102503532	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-1.050000	0.03510	-0.946000	0.03677	-0.467000	0.05162	TGG	ARMC10	-	NULL	ENSG00000170632		0.592	ARMC10-001	KNOWN	basic|CCDS	protein_coding	ARMC10	HGNC	protein_coding	OTTHUMT00000347882.1	-	0	38	0	G	NM_031905		102716296	1	tier1	-	no_errors	ENST00000323716	ensembl	human	known	74_37	missense	59.57	19	28	SNP	0.000	T	T	102716296	G	T	102716296	3	4	166	1	0	0	0	0	1	0	0	0	951	1357	47	3	218	3	ARMC10	7	102716296	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	2030760	102716296	56422367	96	41864											
ARMC10	83787	genome.wustl.edu	37	chr7	102716313	102716313	+	Nonsense_Mutation	SNP	A	A	T	1	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	cctgggagtcacagtggtccAagacctcgcagcctggtgtg	7	8	14	12	1	1	1	1	0	0	1	3	2	2	2	4	3	1	1	4	3	1	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:102716313A>T	ENST00000323716.3	+	2	621	c.229A>T	c.(229-231)Aag>Tag	p.K77*	FBXL13_ENST00000379306.3_5'Flank|FBXL13_ENST00000379305.3_5'Flank|FBXL13_ENST00000313221.4_5'Flank|FBXL13_ENST00000455112.2_5'Flank|FBXL13_ENST00000456695.1_5'Flank|FBXL13_ENST00000471074.1_5'Flank|FBXL13_ENST00000393772.2_5'Flank|ARMC10_ENST00000454559.1_Intron|ARMC10_ENST00000441711.2_Intron|ARMC10_ENST00000541300.1_Intron|FBXL13_ENST00000379308.3_5'Flank|ARMC10_ENST00000428183.2_Nonsense_Mutation_p.K77*|ARMC10_ENST00000425331.1_Intron	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	77					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACAGTGGTCCAAGACCTCGCA	0.587																																																	0													76	68	70					7																	102716313		2202	4300	6502	SO:0001587	stop_gained	0			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.229A>T	7.37:g.102716313A>T	ENSP00000319412:p.Lys77*		A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.K77*	ENST00000323716.3	37	c.229	CCDS5728.1	7	.	.	.	.	.	.	.	.	.	.	A	36	5.951649	0.97139	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000434153	.	.	.	2.81	-1.83	0.07833	.	4.887320	0.00644	U	0.000531	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	3.4329	0.07434	0.3726:0.2338:0.3936:0.0	.	.	.	.	X	77	.	ENSP00000319412:K77X	K	+	1	0	ARMC10	102503549	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.164000	0.16542	-0.367000	0.08052	0.482000	0.46254	AAG	ARMC10	-	NULL	ENSG00000170632		0.587	ARMC10-001	KNOWN	basic|CCDS	protein_coding	ARMC10	HGNC	protein_coding	OTTHUMT00000347882.1	-	0	40	0	A	NM_031905		102716313	1	tier1	-	no_errors	ENST00000323716	ensembl	human	known	74_37	nonsense	61.82	21	34	SNP	0.000	T	T	102716313	A	T	102716313	4	4	166	1	0	0	0	0	0	1	0	0	951	131	5	5	235	5	ARMC10	7	102716313	Nonsense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	17	102716313	56422350	97	41865											
FLNC	2318	genome.wustl.edu	37	chr7	128487788	128487788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtgaaggatgtggtggaCcctgggaaggtgaagtgctc	9	8	17	7	0	0	2	0	2	0	0	1	5	0	5	2	5	1	1	2	5	3	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:128487788C>A	ENST00000325888.8	+	25	4587	c.4326C>A	c.(4324-4326)gaC>gaA	p.D1442E	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.D1442E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1442					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						ATGTGGTGGACCCTGGGAAGG	0.647																																																	0													60	67	65					7																	128487788		1990	4166	6156	SO:0001583	missense	0			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.4326C>A	7.37:g.128487788C>A	ENSP00000327145:p.Asp1442Glu		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.D1442E	ENST00000325888.8	37	c.4326	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495286	0.64186	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.75367	-0.93;-0.93	5.12	-0.866	0.10659	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83381	0.5242	M	0.86420	2.815	0.38442	D	0.946723	D;D	0.89917	0.998;1.0	D;D	0.85130	0.997;0.996	T	0.80324	-0.1430	10	0.41790	T	0.15	.	7.2012	0.25881	0.1125:0.5315:0.0:0.356	.	1442;1442	Q14315-2;Q14315	.;FLNC_HUMAN	E	1442	ENSP00000327145:D1442E;ENSP00000344002:D1442E	ENSP00000327145:D1442E	D	+	3	2	FLNC	128275024	0.395000	0.25254	0.994000	0.49952	0.699000	0.40488	-0.195000	0.09546	-0.125000	0.11703	0.561000	0.74099	GAC	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	-	0	99	0	C			128487788	1	tier1	-	no_errors	ENST00000325888	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.985	A	A	128487788	C	A	128487788	3	1	166	1	0	0	0	0	1	0	0	0	5957	506	18	3	4424	3	FLNC	7	128487788	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	25771475	128487788	30650875	98	41866											
SSPO	23145	genome.wustl.edu	37	chr7	149474897	149474897	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gactccacctgggctgtccaCctaacacccggggaccgctg	7	6	11	17	2	0	0	0	0	0	0	2	2	2	1	6	3	1	2	6	3	1	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:149474897C>T	ENST00000378016.2	+	0	696							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)			GGGCTGTCCACCTAACACCCG	0.677																																																	0													15	18	17					7																	149474897		2014	4146	6160			0			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.149474897C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.677	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript			0	29	0	C			149474897	1			no_errors	ENST00000262089	ensembl	human	known	74_37	rna	14.29	18	3	SNP	1.000	T	T	149474897	C	T	149474897	1	4	166	0	1	0	0	0	0	0	0	0	15236	506	18	3		3	SSPO	7	149474897	RNA	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	20987109	149474897	9663766	99	41867											
PAXIP1	22976	genome.wustl.edu	37	chr7	154753307	154753307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcacctgccaaataagccaTtaattttaggtcatctctgt	11	13	7	10	0	2	0	1	0	1	0	3	0	2	0	3	2	2	1	3	2	4	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:154753307T>C	ENST00000404141.1	-	11	2333	c.2179A>G	c.(2179-2181)Atg>Gtg	p.M727V	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.M727V			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	727	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				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)		AAATAAGCCATTAATTTTAGG	0.338																																																	0													51	49	49					7																	154753307		1832	4085	5917	SO:0001583	missense	0			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.2179A>G	7.37:g.154753307T>C	ENSP00000384048:p.Met727Val		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.M727V	ENST00000404141.1	37	c.2179	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321077	0.60634	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	D;D	0.82255	-1.59;-1.59	4.99	4.99	0.66335	BRCT (3);	0.000000	0.64402	U	0.000003	D	0.90686	0.7078	M	0.78637	2.42	0.54753	D	0.99998	D;D;D	0.64830	0.994;0.982;0.985	D;D;D	0.78314	0.991;0.961;0.977	D	0.92016	0.5622	10	0.87932	D	0	-52.4473	14.978	0.71289	0.0:0.0:0.0:1.0	.	680;693;727	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	V	727;727;551;680	ENSP00000384048:M727V;ENSP00000380376:M727V	ENSP00000319149:M680V	M	-	1	0	PAXIP1	154384240	1.000000	0.71417	0.966000	0.40874	0.983000	0.72400	7.359000	0.79477	1.989000	0.58080	0.482000	0.46254	ATG	PAXIP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000157212		0.338	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	-	0	66	0	T	NM_007349		154753307	-1	tier1	-	no_errors	ENST00000397192	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	C	C	154753307	T	C	154753307	3	2	166	1	0	0	0	0	1	0	0	0	11526	1493	52	4	1074	4	PAXIP1	7	154753307	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	5278410	154753307	4385356	100	41868											
WDR60	55112	genome.wustl.edu	37	chr7	158719119	158719119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtttgtccttccacatcGcttccttggatgagagtggg	6	13	12	10	1	0	1	0	1	0	1	4	3	3	2	3	3	0	2	3	3	0	4	rs115070314	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:158719119G>T	ENST00000407559.3	+	19	2556	c.2398G>T	c.(2398-2400)Gct>Tct	p.A800S		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	800					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTTCCACATCGCTTCCTTGGA	0.493																																																	0													39	37	38					7																	158719119		1921	4130	6051	SO:0001583	missense	0				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2398G>T	7.37:g.158719119G>T	ENSP00000384290:p.Ala800Ser		Q9NW58	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.A800S	ENST00000407559.3	37	c.2398	CCDS47757.1	7	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380464	0.42207	.	.	ENSG00000126870	ENST00000407559	T	0.80393	-1.37	5.95	5.08	0.68730	WD40 repeat-like-containing domain (1);	0.055233	0.64402	D	0.000001	D	0.89431	0.6713	M	0.81239	2.535	0.49582	D	0.999805	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	D	0.90318	0.4342	10	0.56958	D	0.05	-12.2357	14.3226	0.66496	0.0706:0.0:0.9294:0.0	.	283;800	A4D230;Q8WVS4	.;WDR60_HUMAN	S	800	ENSP00000384290:A800S	ENSP00000384290:A800S	A	+	1	0	WDR60	158411880	1.000000	0.71417	0.045000	0.18777	0.943000	0.58893	7.571000	0.82399	1.536000	0.49237	0.655000	0.94253	GCT	WDR60	-	superfamily_WD40_repeat_dom	ENSG00000126870		0.493	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1		0	47	0	G	NM_018051		158719119	1			no_errors	ENST00000407559	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.813	T	T	158719119	G	T	158719119	3	4	166	1	0	0	0	0	1	0	0	0	17360	1087	38	2	2472	2	WDR60	7	158719119	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	3965812	158719119	419544	101	41869											
DLGAP2	9228	genome.wustl.edu	37	chr8	1645353	1645353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgacgtcgcaggacctggCcggctactgggacatgctgc	6	6	15	14	4	0	0	0	0	0	0	1	3	0	2	3	4	3	3	3	4	1	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:1645353C>T	ENST00000421627.2	+	11	2731	c.2597C>T	c.(2596-2598)gCc>gTc	p.A866V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	945					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)		CAGGACCTGGCCGGCTACTGG	0.647																																																	0													30	35	33					8																	1645353		2001	4158	6159	SO:0001583	missense	0			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.2597C>T	8.37:g.1645353C>T	ENSP00000400258:p.Ala866Val		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.A866V	ENST00000421627.2	37	c.2597	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.490819|5.490819	0.96339|0.96339	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.21932|.	1.98|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83207|0.83207	0.5204|0.5204	M|M	0.87971|0.87971	2.92|2.92	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;0.982|.	D;D|.	0.91635|.	0.999;0.983|.	D|D	0.86044|0.86044	0.1521|0.1521	10|5	0.87932|.	D|.	0|.	-11.0408|-11.0408	18.0887|18.0887	0.89466|0.89466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	931;945|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	V|S	897;866|869	ENSP00000400258:A866V|.	ENSP00000348366:A897V|.	A|P	+|+	2|1	0|0	DLGAP2|DLGAP2	1632760|1632760	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.984000|0.984000	0.73092|0.73092	7.404000|7.404000	0.79996|0.79996	2.270000|2.270000	0.75569|0.75569	0.561000|0.561000	0.74099|0.74099	GCC|CCG	DLGAP2	-	pfam_GKAP	ENSG00000198010		0.647	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	-	0	75	0	C	NM_004745		1645353	1	tier1	-	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	1645353	C	T	1645353	3	4	166	1	0	0	0	0	1	0	0	0	4574	739	26	3	2635	3	DLGAP2	8	1645353	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09		1645353	144718669	102	41870											
ADAM18	8749	genome.wustl.edu	37	chr8	39534972	39534972	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaggtgctccatttgcCtgttttaaagaagttaattc	10	15	8	8	0	1	1	1	0	0	1	3	1	2	1	2	1	2	4	2	1	5	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:39534972C>T	ENST00000265707.5	+	15	1593	c.1548C>T	c.(1546-1548)gcC>gcT	p.A516A	ADAM18_ENST00000379866.1_Silent_p.A492A|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	516	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTCCATTTGCCTGTTTTAAAG	0.323																																																	0													84	83	83					8																	39534972		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1548C>T	8.37:g.39534972C>T			B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.A516	ENST00000265707.5	37	c.1548	CCDS6113.1	8																																																																																			ADAM18	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000168619		0.323	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	-	0	74	0	C	NM_014237		39534972	1	tier1	-	no_errors	ENST00000265707	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.985	T	T	39534972	C	T	39534972	2	4	166	1	0	0	0	0	0	0	0	1	239	668	24	3		3	ADAM18	8	39534972	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	37889619	39534972	106829050	103	41871											
SLC20A2	6575	genome.wustl.edu	37	chr8	42297137	42297137	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttactgaggctttcgtcagaTactcgtgataaagcaccttc	10	13	8	10	2	1	3	1	2	0	1	4	3	1	3	1	1	3	2	1	1	4	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:42297137T>A	ENST00000342228.3	-	7	1134	c.765A>T	c.(763-765)gtA>gtT	p.V255V	SLC20A2_ENST00000520179.1_Silent_p.V255V|SLC20A2_ENST00000520262.1_Silent_p.V255V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	255					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)			TTTCGTCAGATACTCGTGATA	0.408																																																	0													139	129	132					8																	42297137		2203	4300	6503	SO:0001819	synonymous_variant	0				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.765A>T	8.37:g.42297137T>A				Silent	SNP	pfam_Phos_transporter	p.V255	ENST00000342228.3	37	c.765	CCDS6132.1	8																																																																																			SLC20A2	-	pfam_Phos_transporter	ENSG00000168575		0.408	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	-	0	44	0	T			42297137	-1	tier1	-	no_errors	ENST00000342228	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.000	A	A	42297137	T	A	42297137	2	1	166	1	0	0	0	0	0	0	0	1	14484	1393	49	5		5	SLC20A2	8	42297137	Silent	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	2762165	42297137	104066885	104	41872											
TGS1	96764	genome.wustl.edu	37	chr8	56737156	56737156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttaggtggcatccttagctgGgcctggagggcaagtggaaa	9	9	16	7	0	0	0	0	0	0	0	1	2	1	2	2	6	1	3	2	6	4	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:56737156G>T	ENST00000260129.5	+	13	2933	c.2456G>T	c.(2455-2457)gGg>gTg	p.G819V		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	819	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TCCTTAGCTGGGCCTGGAGGG	0.388																																					Esophageal Squamous(34;275 823 4842 34837 48447)												0													134	112	119					8																	56737156		2203	4300	6503	SO:0001583	missense	0			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2456G>T	8.37:g.56737156G>T	ENSP00000260129:p.Gly819Val		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.G819V	ENST00000260129.5	37	c.2456	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710323	0.89018	.	.	ENSG00000137574	ENST00000260129	T	0.42513	0.97	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.89353	3.025	0.80722	D	1	D	0.69078	0.997	D	0.68192	0.956	T	0.76299	-0.3010	10	0.87932	D	0	-19.8299	18.5442	0.91040	0.0:0.0:1.0:0.0	.	819	Q96RS0	TGS1_HUMAN	V	819	ENSP00000260129:G819V	ENSP00000260129:G819V	G	+	2	0	TGS1	56899710	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.593000	0.90832	2.687000	0.91594	0.655000	0.94253	GGG	TGS1	-	pfam_RNA_cap_Gua-N2-MeTrfase	ENSG00000137574		0.388	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1		0	127	0	G	NM_024831		56737156	1			no_errors	ENST00000260129	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	56737156	G	T	56737156	3	4	166	1	0	0	0	0	1	0	0	0	15884	1232	43	3	2506	3	TGS1	8	56737156	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	14440019	56737156	89626866	105	41873											
ZFHX4	79776	genome.wustl.edu	37	chr8	77766970	77766970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgaagaccaacaccgaGataaacgcttgagaaccacg	15	4	11	11	4	0	4	0	2	0	3	0	6	0	4	3	1	3	1	3	1	5	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:77766970G>T	ENST00000521891.2	+	10	8261	c.7813G>T	c.(7813-7815)Gat>Tat	p.D2605Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2560Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2579Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2560Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2560					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)			CCAACACCGAGATAAACGCTT	0.413										HNSCC(33;0.089)																																							0													49	48	49					8																	77766970		1905	4114	6019	SO:0001583	missense	0				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.7813G>T	8.37:g.77766970G>T	ENSP00000430497:p.Asp2605Tyr		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.D2605Y	ENST00000521891.2	37	c.7813	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846020	0.32606	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54866	0.55;0.6;0.57;0.56	5.38	5.38	0.77491	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.43260	U	0.000593	T	0.65903	0.2736	L	0.36672	1.1	0.80722	D	1	D;D;D	0.69078	0.965;0.979;0.997	P;D;D	0.79784	0.862;0.935;0.993	T	0.67696	-0.5604	10	0.87932	D	0	.	19.3233	0.94252	0.0:0.0:1.0:0.0	.	2560;2560;2605	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	2605;2589;2560;2560;2579	ENSP00000430497:D2605Y;ENSP00000399605:D2560Y;ENSP00000050961:D2560Y;ENSP00000430848:D2579Y	ENSP00000050961:D2560Y	D	+	1	0	ZFHX4	77929525	1.000000	0.71417	0.168000	0.22838	0.348000	0.29142	7.818000	0.86416	2.791000	0.96007	0.650000	0.86243	GAT	ZFHX4	-	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000091656		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	47	0	G	NM_024721		77766970	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	77766970	G	T	77766970	3	4	166	1	0	0	0	0	1	0	0	0	17683	942	33	3	7847	3	ZFHX4	8	77766970	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	21029814	77766970	68597052	106	41874											
NUDCD1	84955	genome.wustl.edu	37	chr8	110308631	110308631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcccatttttcagaagcGctatttccacgttcacctgt	8	14	5	14	2	2	1	2	0	0	1	4	1	4	1	4	0	1	2	4	0	2	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:110308631G>A	ENST00000239690.4	-	3	815	c.441C>T	c.(439-441)agC>agT	p.S147S	NUDCD1_ENST00000427660.2_Silent_p.S118S|RP11-122A21.2_ENST00000504175.2_RNA	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TTTCAGAAGCGCTATTTCCAC	0.383																																																	0													226	216	219					8																	110308631		2203	4300	6503	SO:0001819	synonymous_variant	0			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.441C>T	8.37:g.110308631G>A				Silent	SNP	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.S147	ENST00000239690.4	37	c.441	CCDS6312.1	8																																																																																			NUDCD1	-	NULL	ENSG00000120526		0.383	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD1	HGNC	protein_coding	OTTHUMT00000380996.1		0	108	0	G	NM_032869		110308631	-1			no_errors	ENST00000239690	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.982	A	A	110308631	G	A	110308631	2	1	166	1	0	0	0	0	0	0	0	1	10761	1078	38	1		1	NUDCD1	8	110308631	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	32541661	110308631	36055391	107	41875											
KLHL38	340359	genome.wustl.edu	37	chr8	124664837	124664837	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaactgtagcatggaggcGgcctccatcacggggaggac	9	5	17	10	2	1	0	1	0	0	0	2	4	2	4	2	7	2	2	2	7	2	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:124664837G>A	ENST00000325995.7	-	1	353	c.330C>T	c.(328-330)gcC>gcT	p.A110A	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	110										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCATGGAGGCGGCCTCCATCA	0.577																																																	0													60	66	64					8																	124664837		2029	4187	6216	SO:0001819	synonymous_variant	0				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.330C>T	8.37:g.124664837G>A			A0PK12	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A110	ENST00000325995.7	37	c.330	CCDS43766.1	8																																																																																			KLHL38	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000175946		0.577	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	-	0	30	0	G			124664837	-1	tier1	-	no_errors	ENST00000325995	ensembl	human	known	74_37	silent	39.13	14	9	SNP	0.000	A	A	124664837	G	A	124664837	2	1	166	1	0	0	0	0	0	0	0	1	8417	1103	39	1		1	KLHL38	8	124664837	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	14356206	124664837	21699185	108	41876											
SPATC1	375686	genome.wustl.edu	37	chr8	145095047	145095047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccattgcgggacccctaaCaggcacactggccagttccc	8	7	9	17	1	0	0	0	0	0	0	2	1	2	1	5	3	2	2	5	3	1	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:145095047C>A	ENST00000377470.3	+	2	551	c.449C>A	c.(448-450)aCa>aAa	p.T150K	SPATC1_ENST00000447830.2_Missense_Mutation_p.T150K	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	150						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)			GGACCCCTAACAGGCACACTG	0.677																																																	0													41	33	36					8																	145095047		2202	4299	6501	SO:0001583	missense	0			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.449C>A	8.37:g.145095047C>A	ENSP00000366690:p.Thr150Lys		B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	NULL	p.T150K	ENST00000377470.3	37	c.449	CCDS6413.2	8	.	.	.	.	.	.	.	.	.	.	C	8.563	0.878127	0.17395	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.46063	0.88;0.88	4.57	-5.38	0.02673	.	4.406720	0.00424	N	0.000061	T	0.29684	0.0741	N	0.22421	0.69	0.09310	N	1	B;B	0.26195	0.144;0.008	B;B	0.21546	0.035;0.015	T	0.27706	-1.0066	10	0.42905	T	0.14	0.7377	11.5895	0.50938	0.0:0.1895:0.6362:0.1743	.	150;150	B4DWW9;Q76KD6	.;SPERI_HUMAN	K	150	ENSP00000366690:T150K;ENSP00000387613:T150K	ENSP00000366690:T150K	T	+	2	0	SPATC1	145167035	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.145000	0.03194	-0.922000	0.03789	-1.142000	0.01873	ACA	SPATC1	-	NULL	ENSG00000186583		0.677	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1		0	40	0	C	NM_198572		145095047	1			no_errors	ENST00000377470	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.000	A	A	145095047	C	A	145095047	3	1	166	1	0	0	0	0	1	0	0	0	15064	478	17	3	455	3	SPATC1	8	145095047	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	20430210	145095047	1268975	109	41877											
NFKBIL2	4796	genome.wustl.edu	37	chr8	145665514	145665514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagctacactgagctccCgtagtctggtttcggtctca	6	13	9	13	2	3	1	2	1	2	0	6	1	4	1	1	2	3	4	1	2	2	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:145665514C>A	ENST00000409379.3	-	11	1399	c.1370G>T	c.(1369-1371)cGg>cTg	p.R457L	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	457	Glu-rich.				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						ACTGAGCTCCCGTAGTCTGGT	0.642																																																	0													40	42	41					8																	145665514		2202	4296	6498	SO:0001583	missense	0				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.1370G>T	8.37:g.145665514C>A	ENSP00000386239:p.Arg457Leu		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R457L	ENST00000409379.3	37	c.1370	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	C	9.235	1.036741	0.19669	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.40476	1.03	5.7	2.06	0.26882	.	0.361808	0.32041	N	0.006677	T	0.17534	0.0421	N	0.08118	0	0.21719	N	0.999579	B	0.06786	0.001	B	0.09377	0.004	T	0.26292	-1.0107	10	0.08179	T	0.78	-16.3236	7.923	0.29857	0.0:0.2441:0.0:0.7559	.	457	Q96HA7	TONSL_HUMAN	L	457	ENSP00000386239:R457L	ENSP00000386239:R457L	R	-	2	0	TONSL	145636322	1.000000	0.71417	0.910000	0.35882	0.001000	0.01503	3.124000	0.50461	0.444000	0.26612	-1.021000	0.02439	CGG	TONSL	-	NULL	ENSG00000160949		0.642	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	-	0	80	0	C	NM_013432		145665514	-1	tier1	-	no_errors	ENST00000409379	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	A	A	145665514	C	A	145665514	3	1	166	1	0	0	0	0	1	0	0	0	10421	652	23	2	2830	2	NFKBIL2	8	145665514	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	570467	145665514	698508	110	41878											
FREM1	158326	genome.wustl.edu	37	chr9	14748440	14748440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaagcttcctttgagaaaGatctgtagaatcaaagcccc	13	10	7	11	0	2	3	1	1	1	3	3	4	3	3	4	0	2	2	4	0	5	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:14748440G>T	ENST00000380880.3	-	31	6538	c.5755C>A	c.(5755-5757)Ctt>Att	p.L1919I	FREM1_ENST00000380894.1_Missense_Mutation_p.L455I|FREM1_ENST00000422223.2_Missense_Mutation_p.L1919I|FREM1_ENST00000380881.4_Missense_Mutation_p.L1920I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1919					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTTGAGAAAGATCTGTAGAA	0.463																																																	0													46	48	48					9																	14748440		1833	4074	5907	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5755C>A	9.37:g.14748440G>T	ENSP00000370262:p.Leu1919Ile		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.L1920I	ENST00000380880.3	37	c.5758	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	G	3.253	-0.152777	0.06585	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.13538	2.85;2.85;2.58;2.85	5.8	1.47	0.22746	.	0.972503	0.08472	N	0.940844	T	0.08626	0.0214	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.09377	0.0;0.004	T	0.41680	-0.9495	10	0.22706	T	0.39	-2.4419	7.379	0.26845	0.065:0.0955:0.5856:0.2539	.	1919;455	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	I	1920;1919;455;1919	ENSP00000370263:L1920I;ENSP00000412940:L1919I;ENSP00000370278:L455I;ENSP00000370262:L1919I	ENSP00000370262:L1919I	L	-	1	0	FREM1	14738440	0.005000	0.15991	0.001000	0.08648	0.342000	0.28953	0.619000	0.24388	0.363000	0.24346	-1.283000	0.01379	CTT	FREM1	-	NULL	ENSG00000164946		0.463	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	-	0	55	0	G	NM_144966		14748440	-1	tier1	-	no_errors	ENST00000380881	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.000	T	T	14748440	G	T	14748440	3	4	166	1	0	0	0	0	1	0	0	0	6068	942	33	3	812	3	FREM1	9	14748440	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09		14748440	126464991	111	41879											
TMEM215	401498	genome.wustl.edu	37	chr9	32784359	32784359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatcgcagccattgccctgGccaggaaaaccgagggatgc	10	5	13	13	2	0	0	0	0	0	0	1	3	0	2	4	3	4	2	4	3	2	1	rs377384669		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:32784359G>A	ENST00000342743.5	+	2	543	c.178G>A	c.(178-180)Gcc>Acc	p.A60T		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	60						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CATTGCCCTGGCCAGGAAAAC	0.592																																																	0													78	69	72					9																	32784359		2203	4300	6503	SO:0001583	missense	0				CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.178G>A	9.37:g.32784359G>A	ENSP00000345468:p.Ala60Thr		Q6ZUU2	Missense_Mutation	SNP	NULL	p.A60T	ENST00000342743.5	37	c.178	CCDS6530.1	9	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754299	0.49362	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.05	5.05	0.67936	.	0.082584	0.50627	D	0.000109	T	0.36193	0.0958	N	0.14661	0.345	0.44508	D	0.997451	P	0.39665	0.682	B	0.36418	0.224	T	0.28522	-1.0041	9	0.36615	T	0.2	-20.5701	15.8897	0.79286	0.0:0.0:1.0:0.0	.	60	Q68D42	TM215_HUMAN	T	60	.	ENSP00000345468:A60T	A	+	1	0	TMEM215	32774359	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.387000	0.59626	2.344000	0.79699	0.462000	0.41574	GCC	TMEM215	-	NULL	ENSG00000188133		0.592	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM215	HGNC	protein_coding	OTTHUMT00000251701.1	-	0	40	0	G	NM_212558		32784359	1	tier1	-	no_errors	ENST00000342743	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	A	A	32784359	G	A	32784359	3	1	166	1	0	0	0	0	1	0	0	0	16185	1203	42	3	180	3	TMEM215	9	32784359	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	18035919	32784359	108429072	112	41880											
UNC13B	10497	genome.wustl.edu	37	chr9	35389883	35389883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaagggcccagcattcGgaacctggatttctggccca	10	7	12	12	1	1	0	0	0	1	0	2	3	1	3	3	5	3	1	3	5	3	2	rs147799499	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:35389883G>A	ENST00000378495.3	+	24	3110	c.2888G>A	c.(2887-2889)cGg>cAg	p.R963Q	UNC13B_ENST00000378496.4_Missense_Mutation_p.R963Q|UNC13B_ENST00000396787.1_Missense_Mutation_p.R975Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	963					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)	p.R963Q(1)		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)			CCCAGCATTCGGAACCTGGAT	0.493													G|||	2	0.000399361	8e-04	0	5008	,	,		21650	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	pancreas(1)						G	GLN/ARG	0,4406		0,0,2203	147	143	144		2888	2.4	1	9	dbSNP_134	144	2,8598	2.2+/-6.3	0,2,4298	yes	missense	UNC13B	NM_006377.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	963/1592	35389883	2,13004	2203	4300	6503	SO:0001583	missense	0			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.2888G>A	9.37:g.35389883G>A	ENSP00000367756:p.Arg963Gln		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R963Q	ENST00000378495.3	37	c.2888	CCDS6579.1	9	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.38	3.374962	0.61735	0.0	2.33E-4	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.83673	-1.63;-1.55;-1.75	5.24	2.38	0.29361	Calcium-dependent secretion activator (1);	0.328813	0.35739	N	0.003018	T	0.55465	0.1922	N	0.02539	-0.55	0.37039	D	0.897073	B;B	0.33777	0.043;0.425	B;B	0.22386	0.009;0.039	T	0.58504	-0.7625	10	0.41790	T	0.15	-9.5168	7.976	0.30155	0.3803:0.0:0.6197:0.0	.	963;963	F8W8M9;O14795	.;UN13B_HUMAN	Q	975;963;963;550	ENSP00000380006:R975Q;ENSP00000367756:R963Q;ENSP00000367757:R963Q	ENSP00000367756:R963Q	R	+	2	0	UNC13B	35379883	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.668000	0.37481	0.704000	0.31869	0.655000	0.94253	CGG	UNC13B	-	pfam_Ca-dep_secretion_activator	ENSG00000198722		0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1		0	102	0	G	NM_006377		35389883	1			no_errors	ENST00000378496	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	35389883	G	A	35389883	3	1	166	1	0	0	0	0	1	0	0	0	17034	1116	39	1	2982	1	UNC13B	9	35389883	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	2605524	35389883	105823548	113	41881											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39176040	39176040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacacccatgaaagcttttaCgtctgaatgcccgcgatctt	11	11	7	12	3	2	2	0	2	2	0	2	3	2	2	2	0	4	1	2	0	4	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:39176040C>T	ENST00000297668.6	-	7	1050	c.977G>A	c.(976-978)cGt>cAt	p.R326H	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R326H|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R326H|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R238H|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R326H	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	326	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)		AAAGCTTTTACGTCTGAATGC	0.388																																																	0													68	75	73					9																	39176040		2200	4297	6497	SO:0001583	missense	0			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.977G>A	9.37:g.39176040C>T	ENSP00000297668:p.Arg326His		B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R326H	ENST00000297668.6	37	c.977	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	C	1.848	-0.465790	0.04476	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	3.0	-1.41	0.08941	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	T	0.53126	0.1777	N	0.12637	0.245	0.09310	N	1	B;B;B;B;B	0.19706	0.006;0.024;0.038;0.017;0.024	B;B;B;B;B	0.18263	0.01;0.021;0.014;0.01;0.014	T	0.38564	-0.9655	9	0.07175	T	0.84	.	8.2957	0.31984	0.0:0.4818:0.0:0.5182	.	326;326;326;326;326	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	H	326;326;238;326;326;238	ENSP00000297668:R326H;ENSP00000366884:R326H;ENSP00000350863:R238H;ENSP00000320728:R326H;ENSP00000366887:R326H	ENSP00000297668:R326H	R	-	2	0	CNTNAP3	39166040	0.000000	0.05858	0.073000	0.20177	0.104000	0.19210	-0.200000	0.09478	-0.421000	0.07416	0.460000	0.39030	CGT	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.388	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	-	0	153	0	C	NM_033655		39176040	-1	tier1	-	no_errors	ENST00000297668	ensembl	human	known	74_37	missense	28.57	40	16	SNP	0.130	T	T	39176040	C	T	39176040	3	4	166	1	0	0	0	0	1	0	0	0	3655	536	19	1	2961	1	CNTNAP3	9	39176040	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	3786157	39176040	102037391	114	41882											
OSTF1	26578	genome.wustl.edu	37	chr9	77745557	77745557	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactaattccaagcaactatGgtaagtgttgctgagtggtt	11	13	11	6	0	0	1	0	1	0	0	1	2	1	1	1	2	3	5	1	2	5	6			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:77745557G>T	ENST00000346234.6	+	4	346	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	66	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						AAGCAACTATGGTAAGTGTTG	0.413																																																	0													190	178	182					9																	77745557		2203	4300	6503	SO:0001630	splice_region_variant	0			U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996		"Ankyrin repeat domain containing"	8510	protein-coding gene	gene with protein product		610180				10092216	Standard	NM_012383		Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.196+1G>T	9.37:g.77745557G>T			Q5W126|Q96IJ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Ankyrin_rpt	p.V66L	ENST00000346234.6	37	c.196	CCDS6651.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.074514	0.94000	.	.	ENSG00000134996	ENST00000346234	T	0.46451	0.87	5.35	5.35	0.76521	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	L	0.45581	1.43	0.80722	D	1	D;P	0.76494	0.999;0.795	D;P	0.77557	0.99;0.83	T	0.55927	-0.8063	10	0.45353	T	0.12	-6.317	18.19	0.89804	0.0:0.0:1.0:0.0	.	66;66	A8K646;Q92882	.;OSTF1_HUMAN	L	66	ENSP00000340836:V66L	ENSP00000340836:V66L	V	+	1	0	OSTF1	76935377	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.714000	0.91412	2.667000	0.90743	0.455000	0.32223	GTG	OSTF1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	ENSG00000134996		0.413	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTF1	HGNC	protein_coding	OTTHUMT00000052704.1	-	0	68	0	G	NM_012383	Missense_Mutation	77745557	1	tier1	-	no_errors	ENST00000346234	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	77745557	G	T	77745557	5	4	166	1	0	0	0	0	0	0	1	0	11336	1362	47	3	210	3	OSTF1	9	77745557	Splice_Site	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	38569517	77745557	63467874	115	41883											
PTCH1	5727	genome.wustl.edu	37	chr9	98218581	98218581	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaacgtgaacggtgaactCcactcctatgccaacagaag	14	6	9	12	2	0	3	0	2	0	1	2	3	2	3	3	1	6	1	3	1	6	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:98218581C>A	ENST00000331920.6	-	19	3582	c.3283G>T	c.(3283-3285)Gag>Tag	p.E1095*	PTCH1_ENST00000429896.2_Nonsense_Mutation_p.E944*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.E1029*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.E944*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.E1094*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.E944*|PTCH1_ENST00000430669.2_Nonsense_Mutation_p.E1029*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1095					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACGGTGAACTCCACTCCTATG	0.507																																																	1	Deletion - In frame(1)	central_nervous_system(1)											154	119	131					9																	98218581		2203	4300	6503	SO:0001587	stop_gained	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3283G>T	9.37:g.98218581C>A	ENSP00000332353:p.Glu1095*		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.E1095*	ENST00000331920.6	37	c.3283	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.701347	0.98441	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.8299	19.2907	0.94098	0.0:1.0:0.0:0.0	.	.	.	.	X	1095;1029;944;944;531;1029;944;1094	.	ENSP00000332353:E1095X	E	-	1	0	PTCH1	97258402	1.000000	0.71417	0.967000	0.41034	0.169000	0.22640	7.487000	0.81328	2.575000	0.86900	0.655000	0.94253	GAG	PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.507	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	-	0	55	0	C	NM_000264		98218581	-1	tier1	-	no_errors	ENST00000331920	ensembl	human	known	74_37	nonsense	44.44	15	12	SNP	1.000	A	A	98218581	C	A	98218581	4	1	166	1	0	0	0	0	0	1	0	0	12772	864	30	3	1080	3	PTCH1	9	98218581	Nonsense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	20473024	98218581	42994850	116	41884											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100124025	100124025	+	Frame_Shift_Del	DEL	C	C	-																															cagaacaccatcctgaaggaCcaggaggaagacagtgacat																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:100124025delC	ENST00000357054.1	+	38	4481	c.3546delC	c.(3544-3546)gacfs	p.D1182fs	CCDC180_ENST00000529487.1_Frame_Shift_Del_p.D1211fs|MIR1302-8_ENST00000408342.1_RNA|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Frame_Shift_Del_p.D1211fs|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1182						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCCTGAAGGACCAGGAGGAAG	0.602																																																	0													76	60	65					9																	100124025		2203	4300	6503	SO:0001589	frameshift_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.3546delC	9.37:g.100124025delC	ENSP00000349562:p.Asp1182fs		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Frame_Shift_Del	DEL	NULL	p.Q1212fs	ENST00000357054.1	37	c.3633		9																																																																																			CCDC180	-	NULL	ENSG00000197816		0.602	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding			0	51	0	C	NM_020893		100124025	1	tier1		no_errors	ENST00000375202	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	0.000	-	-	100124025	C	-	100124025	7	5	166	1	0	1	0	1	0	0	0	0	8267	506	18	0	3652	0	KIAA1529	9	100124025	Frame_Shift_Del	DEL	C	TCGA-VR-A8EU-01A-11D-A36J-09	1905444	100124025	41089406	117	41885											
ABCA1	19	genome.wustl.edu	37	chr9	107554264	107554264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcaacagcaggcttccGcttccttctatatatctgca	8	13	6	14	1	3	0	1	0	2	0	5	0	5	0	3	1	3	4	3	1	4	6	rs568280586		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:107554264G>A	ENST00000374736.3	-	43	6167	c.5773C>T	c.(5773-5775)Cgg>Tgg	p.R1925W		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1925	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> Q (in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane; dbSNP:rs142688906). {ECO:0000269|PubMed:15790791}.		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)	GCAGGCTTCCGCTTCCTTCTA	0.438																																																	0													89	76	81					9																	107554264		2203	4300	6503	SO:0001583	missense	0			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.5773C>T	9.37:g.107554264G>A	ENSP00000363868:p.Arg1925Trp		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1925W	ENST00000374736.3	37	c.5773	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906692	0.72868	.	.	ENSG00000165029	ENST00000374736	D	0.93659	-3.26	5.82	3.47	0.39725	ABC transporter-like (1);	0.150978	0.64402	D	0.000009	D	0.94601	0.8260	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	P	0.51657	0.676	D	0.94066	0.7331	10	0.87932	D	0	.	15.4424	0.75195	0.0:0.0:0.5703:0.4297	.	1925	O95477	ABCA1_HUMAN	W	1925	ENSP00000363868:R1925W	ENSP00000363868:R1925W	R	-	1	2	ABCA1	106594085	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.154000	0.31688	0.465000	0.27167	-0.397000	0.06425	CGG	ABCA1	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000165029		0.438	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	-	0	25	0	G	NM_005502		107554264	-1	tier1	-	no_errors	ENST00000374736	ensembl	human	known	74_37	missense	83.33	4	20	SNP	1.000	A	A	107554264	G	A	107554264	3	1	166	1	0	0	0	0	1	0	0	0	28	1086	38	1	1044	1	ABCA1	9	107554264	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	7430239	107554264	33659167	118	41886											
DBC1	1620	genome.wustl.edu	37	chr9	121929725	121929725	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgcctcttggagggatcCgacaggtccacggggccctg	7	7	14	13	2	1	0	0	0	1	0	3	3	3	2	4	5	2	0	4	5	1	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:121929725C>T	ENST00000265922.3	-	8	2384	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	641					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)											TGGAGGGATCCGACAGGTCCA	0.562																																																	0													147	141	143					9																	121929725		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1923G>A	9.37:g.121929725C>T			Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.S641	ENST00000265922.3	37	c.1923	CCDS6822.1	9																																																																																			BRINP1	-	NULL	ENSG00000078725		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	34	0	C	NM_014618		121929725	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.003	T	T	121929725	C	T	121929725	2	4	166	1	0	0	0	0	0	0	0	1	4256	639	23	1		1	DBC1	9	121929725	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	14375461	121929725	19283706	119	41887											
OLFM1	10439	genome.wustl.edu	37	chr9	137982066	137982067	+	Missense_Mutation	DNP	GC	GC	TT																															gcccaccaaccctgaggagaGctggcaggtgtacagctctg																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:137982066_137982067GC>TT	ENST00000371793.3	+	2	427_428	c.176_177GC>TT	c.(175-177)aGC>aTT	p.S59I	OLFM1_ENST00000392991.4_Missense_Mutation_p.S59I|OLFM1_ENST00000371796.3_Missense_Mutation_p.S32I|OLFM1_ENST00000252854.4_Missense_Mutation_p.S41I|OLFM1_ENST00000277415.11_Missense_Mutation_p.S41I	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	59					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCTGAGGAGAGCTGGCAGGTGT	0.609																																																	0																																										SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	Exception_encountered	9.37:g.137982066_137982067delinsTT	ENSP00000360858:p.Ser59Ile		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation|Silent	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.S59I|p.S59	ENST00000371793.3	37	c.176|c.177		9																																																																																			OLFM1	-	pfam_Noelin-1	ENSG00000130558		0.609	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0	58	0	G|C	NM_014279		137982066|137982067	1	tier1	-	no_errors	ENST00000371793	ensembl	human	known	74_37	missense|silent	56.25|58.06	14|13	18	SNP	1.000	T	TT	137982067	GC	TT	137982066	3	4	166	1	0	0	0	0	1	0	0	0	10891	971	34	3	128	3	OLFM1	9	137982066	Missense_Mutation	DNP	GC	TCGA-VR-A8EU-01A-11D-A36J-09	16052341	137982066	3231365	120	41888											
SLC39A12	221074	genome.wustl.edu	37	chr10	18250587	18250587	+	Missense_Mutation	SNP	A	A	T	1	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	agagaagaagtggtccagagAgtttctcttctccttctcta	10	13	9	9	0	3	3	0	0	3	3	7	5	4	3	2	1	0	1	2	1	3	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:18250587A>T	ENST00000377369.2	+	3	612	c.339A>T	c.(337-339)agA>agT	p.R113S	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377374.4_Missense_Mutation_p.R113S|SLC39A12_ENST00000377371.3_Missense_Mutation_p.R113S	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	113					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGGTCCAGAGAGTTTCTCTTC	0.363																																																	0													98	103	101					10																	18250587		2203	4300	6503	SO:0001583	missense	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.339A>T	10.37:g.18250587A>T	ENSP00000366586:p.Arg113Ser		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.R113S	ENST00000377369.2	37	c.339	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	A	19.69	3.875047	0.72180	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000425219	T;T;T	0.25085	1.82;1.82;1.82	5.43	-0.203	0.13204	.	0.363384	0.28214	N	0.016178	T	0.40247	0.1109	M	0.73598	2.24	0.80722	D	1	D;D;D	0.71674	0.991;0.998;0.991	D;D;D	0.63877	0.913;0.919;0.913	T	0.18650	-1.0330	10	0.87932	D	0	-10.8128	5.3237	0.15895	0.6616:0.0:0.2188:0.1196	.	113;113;113	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	S	113;113;113;33	ENSP00000366586:R113S;ENSP00000366591:R113S;ENSP00000366588:R113S	ENSP00000366586:R113S	R	+	3	2	SLC39A12	18290593	0.999000	0.42202	0.952000	0.39060	0.953000	0.61014	0.660000	0.25009	-0.282000	0.09128	-0.256000	0.11100	AGA	SLC39A12	-	NULL	ENSG00000148482		0.363	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		-	0	38	0	A	NM_152725		18250587	1	tier1	-	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	T	T	18250587	A	T	18250587	3	4	166	1	0	0	0	0	1	0	0	0	14660	301	11	5	345	5	SLC39A12	10	18250587	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09		18250587	117284160	121	41889											
C10orf72	196740	genome.wustl.edu	37	chr10	50255074	50255074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttcggtttatggaacGtgggggctatcggagctgtg	6	11	17	7	3	0	0	0	0	0	0	2	2	0	2	0	5	3	5	0	5	3	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:50255074G>A	ENST00000332853.4	-	7	814	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T264R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TTTATGGAACGTGGGGGCTAT	0.473																																																	1	Substitution - Missense(1)	lung(1)											324	295	305					10																	50255074		2203	4300	6503	SO:0001583	missense	0			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.791C>T	10.37:g.50255074G>A	ENSP00000331062:p.Thr264Met		B4DNI6|Q96MX7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.T264M	ENST00000332853.4	37	c.791	CCDS31198.1	10	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740119	0.69304	.	.	ENSG00000165633	ENST00000332853	T	0.07327	3.2	5.92	5.92	0.95590	.	0.514470	0.21973	N	0.066437	T	0.05410	0.0143	N	0.08118	0	0.80722	D	1	P	0.49358	0.923	B	0.38327	0.271	T	0.42716	-0.9435	10	0.62326	D	0.03	-3.0249	15.8243	0.78686	0.0:0.0:1.0:0.0	.	264	Q8IW00	VSTM4_HUMAN	M	264	ENSP00000331062:T264M	ENSP00000331062:T264M	T	-	2	0	VSTM4	49925080	0.177000	0.23109	0.036000	0.18154	0.071000	0.16799	3.182000	0.50910	2.811000	0.96726	0.555000	0.69702	ACG	VSTM4	-	NULL	ENSG00000165633		0.473	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM4	HGNC	protein_coding	OTTHUMT00000047966.2		0	83	0	G	NM_144984		50255074	-1			no_errors	ENST00000332853	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.029	A	A	50255074	G	A	50255074	3	1	166	1	0	0	0	0	1	0	0	0	1620	1145	40	1	179	1	C10orf72	10	50255074	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	32004487	50255074	85279673	122	41890											
CHAT	1103	genome.wustl.edu	37	chr10	50835768	50835769	+	Frame_Shift_Ins	INS	-	-	T																															ggacgagcgtttgcctccaaINSttggcctgctgacgtctgac																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:50835768_50835769insT	ENST00000337653.2	+	7	1201_1202	c.1048_1049insT	c.(1048-1050)attfs	p.I350fs	CHAT_ENST00000395559.2_Frame_Shift_Ins_p.I232fs|CHAT_ENST00000455728.2_Frame_Shift_Ins_p.I232fs|CHAT_ENST00000339797.1_Frame_Shift_Ins_p.I232fs|CHAT_ENST00000351556.3_Frame_Shift_Ins_p.I232fs|CHAT_ENST00000395562.2_Frame_Shift_Ins_p.I268fs	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	350					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)	TTTGCCTCCAATTGGCCTGCTG	0.564																																																	0																																										SO:0001589	frameshift_variant	0			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.1050dupT	10.37:g.50835770_50835770dupT	ENSP00000337103:p.Ile350fs		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Frame_Shift_Ins	INS	pfam_Carn_acyl_trans	p.G351fs	ENST00000337653.2	37	c.1048_1049	CCDS7232.1	10																																																																																			CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.564	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1		0	57	0	-	NM_020549		50835769	1	tier1		no_errors	ENST00000337653	ensembl	human	known	74_37	frame_shift_ins	18.18	9	2	INS	0.997:1.000	T	T	50835769	-	T	50835768	7	5	166	1	0	1	1	0	0	0	0	0	3320	101	4	0	1118	0	CHAT	10	50835768	Frame_Shift_Ins	INS	-	TCGA-VR-A8EU-01A-11D-A36J-09	580694	50835768	84698979	123	41891											
OGDHL	55753	genome.wustl.edu	37	chr10	50955146	50955146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcaccacagggtccactgCctccaggtgggaggggttgg	6	7	16	12	0	0	0	0	0	0	0	2	1	2	1	4	6	2	2	4	6	0	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:50955146C>T	ENST00000374103.4	-	9	1181	c.1096G>A	c.(1096-1098)Gca>Aca	p.A366T	OGDHL_ENST00000419399.1_Missense_Mutation_p.A309T|OGDHL_ENST00000432695.1_Missense_Mutation_p.A157T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	366					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGGTCCACTGCCTCCAGGTGG	0.597																																																	0													210	186	194					10																	50955146		2203	4300	6503	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1096G>A	10.37:g.50955146C>T	ENSP00000363216:p.Ala366Thr		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.A366T	ENST00000374103.4	37	c.1096	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.835589	0.97003	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.13420	2.59;2.59;3.21	5.79	5.79	0.91817	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	M	0.77712	2.385	0.80722	D	1	D;D;D	0.71674	0.998;0.992;0.998	D;D;D	0.77557	0.966;0.939;0.99	T	0.19877	-1.0292	10	0.62326	D	0.03	.	20.0263	0.97523	0.0:1.0:0.0:0.0	.	309;157;366	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	T	366;309;157	ENSP00000363216:A366T;ENSP00000401356:A309T;ENSP00000390240:A157T	ENSP00000363216:A366T	A	-	1	0	OGDHL	50625152	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	7.574000	0.82434	2.735000	0.93741	0.655000	0.94253	GCA	OGDHL	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000197444		0.597	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1		0	64	0	C	NM_018245		50955146	-1			no_errors	ENST00000374103	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	50955146	C	T	50955146	3	4	166	1	0	0	0	0	1	0	0	0	10879	739	26	3	1996	3	OGDHL	10	50955146	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	119378	50955146	84579601	124	41892											
SIRT1	23411	genome.wustl.edu	37	chr10	69672363	69672363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcataggttaggtggtgaatAtgccaaactttgctgtaacc	11	13	10	7	0	1	1	1	1	0	0	1	1	1	1	2	3	4	3	2	3	6	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:69672363A>G	ENST00000212015.6	+	8	1543	c.1490A>G	c.(1489-1491)tAt>tGt	p.Y497C	SIRT1_ENST00000403579.1_Missense_Mutation_p.Y194C|SIRT1_ENST00000406900.1_Missense_Mutation_p.Y194C|SIRT1_ENST00000432464.1_Missense_Mutation_p.Y202C	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	497	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GGTGGTGAATATGCCAAACTT	0.378																																																	0													97	97	97					10																	69672363		2203	4300	6503	SO:0001583	missense	0			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.1490A>G	10.37:g.69672363A>G	ENSP00000212015:p.Tyr497Cys		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.Y497C	ENST00000212015.6	37	c.1490	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	A	17.45	3.392911	0.62066	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.92	5.92	0.95590	.	0.259991	0.39341	N	0.001398	T	0.36991	0.0987	L	0.54323	1.7	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	P;D	0.65987	0.865;0.94	T	0.05257	-1.0896	10	0.66056	D	0.02	-15.4482	16.037	0.80638	1.0:0.0:0.0:0.0	.	194;497	B0QZ35;Q96EB6	.;SIRT1_HUMAN	C	497;202;194;194	ENSP00000212015:Y497C;ENSP00000409208:Y202C;ENSP00000384508:Y194C;ENSP00000384063:Y194C	ENSP00000212015:Y497C	Y	+	2	0	SIRT1	69342369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.487000	0.60293	2.267000	0.75376	0.528000	0.53228	TAT	SIRT1	-	pfscan_Ssirtuin_cat_dom	ENSG00000096717		0.378	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1	-	0	87	0	A			69672363	1	tier1	-	no_errors	ENST00000212015	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	G	G	69672363	A	G	69672363	3	3	166	1	0	0	0	0	1	0	0	0	14382	449	16	4	1520	4	SIRT1	10	69672363	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	18717217	69672363	65862384	125	41893											
GLUD1	2746	genome.wustl.edu	37	chr10	88854347	88854347	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagttggggtcgtcctcGcggtcggccaccgcctcgct	5	8	14	14	6	0	1	0	0	0	1	5	1	1	1	4	4	0	2	4	4	2	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:88854347G>A	ENST00000277865.4	-	1	276	c.180C>T	c.(178-180)cgC>cgT	p.R60R	FAM35A_ENST00000298784.1_5'Flank|GLUD1_ENST00000544149.1_5'Flank|GLUD1_ENST00000537649.1_5'Flank|FAM35A_ENST00000298786.4_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	60					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)	GGTCGTCCTCGCGGTCGGCCA	0.721																																																	0													47	54	52					10																	88854347		2202	4300	6502	SO:0001819	synonymous_variant	0			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.180C>T	10.37:g.88854347G>A			B3KV55|B4DGN5|Q5TBU3	Silent	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.R60	ENST00000277865.4	37	c.180	CCDS7382.1	10	.	.	.	.	.	.	.	.	.	.	G	4.252	0.045797	0.08196	.	.	ENSG00000148672	ENST00000394415	.	.	.	3.84	-4.21	0.03812	.	0.389048	0.25692	N	0.028928	.	.	.	.	.	.	0.49299	D	0.999773	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	0.5157	0.00603	0.2795:0.3088:0.1874:0.2243	.	.	.	.	X	34	.	ENSP00000377937:R34X	R	-	1	2	GLUD1	88844327	0.977000	0.34250	0.765000	0.31456	0.062000	0.15995	1.575000	0.36493	-0.676000	0.05238	-1.478000	0.00992	CGA	GLUD1	-	NULL	ENSG00000148672		0.721	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	HGNC	protein_coding	OTTHUMT00000049188.1	-	0	37	0	G	NM_005271		88854347	-1	tier1	-	no_errors	ENST00000277865	ensembl	human	known	74_37	silent	41.67	14	10	SNP	0.577	A	A	88854347	G	A	88854347	2	1	166	1	0	0	0	0	0	0	0	1	6502	1074	38	1		1	GLUD1	10	88854347	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	19181984	88854347	46680400	126	41894											
ACTA2	59	genome.wustl.edu	37	chr10	90703631	90703631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatgctcttcaggggcaaCacgaagctcattgtagaaag	12	8	13	8	1	3	1	2	0	1	1	3	3	3	2	0	3	3	4	0	3	4	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:90703631C>T	ENST00000458208.1	-	4	766	c.292G>A	c.(292-294)Gtt>Att	p.V98I	ACTA2_ENST00000224784.6_Missense_Mutation_p.V98I|ACTA2_ENST00000480297.1_5'UTR|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	98					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)		TCAGGGGCAACACGAAGCTCA	0.527																																																	0													126	113	117					10																	90703631		2203	4300	6503	SO:0001583	missense	0			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.292G>A	10.37:g.90703631C>T	ENSP00000402373:p.Val98Ile		B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.V98I	ENST00000458208.1	37	c.292	CCDS7392.1	10	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331674	0.60853	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901;ENST00000415557;ENST00000458159	D;D;D;D	0.97303	-4.33;-4.33;-3.61;-3.61	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.95893	0.8663	L	0.54908	1.71	0.58432	D	0.999996	B;B	0.11235	0.004;0.0	B;B	0.17433	0.011;0.018	D	0.92487	0.5997	10	0.87932	D	0	.	18.7423	0.91779	0.0:1.0:0.0:0.0	.	98;98	B7Z6I1;P62736	.;ACTA_HUMAN	I	98;98;53;98;98	ENSP00000224784:V98I;ENSP00000402373:V98I;ENSP00000396730:V98I;ENSP00000398239:V98I	ENSP00000224784:V98I	V	-	1	0	ACTA2	90693611	1.000000	0.71417	0.985000	0.45067	0.931000	0.56810	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	GTT	ACTA2	-	pfam_Actin-related,smart_Actin-related	ENSG00000107796		0.527	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1		0	61	0	C	NM_001613		90703631	-1			no_errors	ENST00000224784	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	90703631	C	T	90703631	3	4	166	1	0	0	0	0	1	0	0	0	192	478	17	3	865	3	ACTA2	10	90703631	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	1849284	90703631	44831116	127	41895											
SUFU	51684	genome.wustl.edu	37	chr10	104356918	104356918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagagttgacaaaggcatcGagacagatggctccaacctg	14	6	12	9	1	0	4	0	1	0	3	2	6	1	4	2	2	1	3	2	2	2	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:104356918G>A	ENST00000369902.3	+	7	944	c.778G>A	c.(778-780)Gag>Aag	p.E260K	SUFU_ENST00000423559.2_Missense_Mutation_p.E260K|SUFU_ENST00000369899.2_Missense_Mutation_p.E260K|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	260					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.T261fs*8(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CAAAGGCATCGAGACAGATGG	0.562			"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	1	Insertion - Frameshift(1)	central_nervous_system(1)											114	104	107					10																	104356918		2203	4300	6503	SO:0001583	missense	0	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.778G>A	10.37:g.104356918G>A	ENSP00000358918:p.Glu260Lys	1381	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk	p.E260K	ENST00000369902.3	37	c.778	CCDS7537.1	10	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289167	0.80914	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.62498	0.02;0.02;0.02	6.03	6.03	0.97812	Suppressor of fused C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.69823	2.125	0.80722	D	1	P;P;P	0.46621	0.623;0.569;0.881	B;B;B	0.30105	0.023;0.02;0.111	T	0.67677	-0.5609	10	0.52906	T	0.07	-17.0993	20.5568	0.99304	0.0:0.0:1.0:0.0	.	260;260;260	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	K	260	ENSP00000358918:E260K;ENSP00000358915:E260K;ENSP00000411597:E260K	ENSP00000358915:E260K	E	+	1	0	SUFU	104346908	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GAG	SUFU	-	pfam_SUFU_C,pirsf_Suppressor_of_fused_euk	ENSG00000107882		0.562	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	HGNC	protein_coding	OTTHUMT00000050089.1	-	0	41	0	G	NM_016169		104356918	1	tier1	-	no_errors	ENST00000369902	ensembl	human	known	74_37	missense	48.84	22	21	SNP	1.000	A	A	104356918	G	A	104356918	3	1	166	1	0	0	0	0	1	0	0	0	15415	1059	37	1	804	1	SUFU	10	104356918	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	13653287	104356918	31177829	128	41896											
DEAF1	10522	genome.wustl.edu	37	chr11	684948	684948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgcaagaggcagcgtgagGgtttaagatcccatcctgag	10	8	15	8	1	0	4	0	2	0	2	2	4	2	4	2	3	2	3	2	3	2	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:684948G>T	ENST00000382409.3	-	6	1304	c.820C>A	c.(820-822)Cct>Act	p.P274T	DEAF1_ENST00000338675.6_Missense_Mutation_p.P227H	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	274					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)		GCAGCGTGAGGGTTTAAGATC	0.498																																																	0													84	68	74					11																	684948		2029	3840	5869	SO:0001583	missense	0			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.820C>A	11.37:g.684948G>T	ENSP00000371846:p.Pro274Thr		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom	p.P274T	ENST00000382409.3	37	c.820	CCDS31327.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.952004|3.952004	0.73787|0.73787	.|.	.|.	ENSG00000177030|ENSG00000177030	ENST00000338675|ENST00000382409;ENST00000359958;ENST00000388804	.|T	.|0.62788	.|-0.0	4.46|4.46	4.46|4.46	0.54185|0.54185	.|SAND domain-like (2);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76564|0.76564	0.4005|0.4005	M|M	0.61703|0.61703	1.905|1.905	0.28547|0.28547	N|N	0.911817|0.911817	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.72475|0.72475	-0.4282|-0.4282	7|10	0.51188|0.62326	T|D	0.08|0.03	-14.6431|-14.6431	16.2708|16.2708	0.82618|0.82618	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|274	.|O75398	.|DEAF1_HUMAN	H|T	227|274;260;197	.|ENSP00000371846:P274T	ENSP00000341902:P227H|ENSP00000353043:P260T	P|P	-|-	2|1	0|0	DEAF1|DEAF1	674948|674948	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.893000|0.893000	0.52053|0.52053	8.919000|8.919000	0.92770|0.92770	2.199000|2.199000	0.70637|0.70637	0.491000|0.491000	0.48974|0.48974	CCC|CCT	DEAF1	-	superfamily_SAND_dom-like	ENSG00000177030		0.498	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEAF1	HGNC	protein_coding	OTTHUMT00000383614.3	-	0	34	0	G	NM_021008		684948	-1	tier1	-	no_errors	ENST00000382409	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	T	T	684948	G	T	684948	3	4	166	1	0	0	0	0	1	0	0	0	4389	1232	43	3	905	3	DEAF1	11	684948	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09		684948	134321568	129	41897											
MRVI1	10335	genome.wustl.edu	37	chr11	10598061	10598061	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agccatcatccagatcacttGccagtgctgacacagtttgg	10	10	9	12	0	2	2	2	1	0	1	3	2	3	2	3	1	3	2	3	1	0	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:10598061G>T	ENST00000436272.1	-	20	2554	c.2476C>A	c.(2476-2478)Caa>Aaa	p.Q826K	MRVI1_ENST00000421747.1_Missense_Mutation_p.Q844K|MRVI1_ENST00000527509.2_Missense_Mutation_p.Q762K|MRVI1_ENST00000531107.1_Missense_Mutation_p.Q845K|MRVI1_ENST00000423302.2_Missense_Mutation_p.Q853K|MRVI1_ENST00000552103.1_Missense_Mutation_p.Q762K|MRVI1_ENST00000541483.1_Missense_Mutation_p.Q647K|MRVI1_ENST00000534266.2_Missense_Mutation_p.Q538K|MRVI1_ENST00000558540.1_Missense_Mutation_p.Q538K|MRVI1_ENST00000547195.1_Missense_Mutation_p.Q762K|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000545852.1_Missense_Mutation_p.Q538K|MRVI1_ENST00000424001.1_Missense_Mutation_p.Q538K			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	826					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CAGATCACTTGCCAGTGCTGA	0.448																																																	0													126	126	126					11																	10598061		2092	4235	6327	SO:0001583	missense	0			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2476C>A	11.37:g.10598061G>T	ENSP00000412229:p.Gln826Lys		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.Q844K	ENST00000436272.1	37	c.2530		11	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518117	0.44763	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67	5.82	3.78	0.43462	.	0.549693	0.19718	N	0.107653	T	0.11024	0.0269	L	0.36672	1.1	0.29517	N	0.853773	B;B;B;B	0.16802	0.015;0.019;0.019;0.015	B;B;B;B	0.18871	0.008;0.023;0.023;0.013	T	0.14476	-1.0471	10	0.15952	T	0.53	-0.0517	12.0589	0.53550	0.0:0.0:0.4357:0.5643	.	647;826;845;844	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	K	844;827;826;762;762;538;538;853;647;845;762	ENSP00000414598:Q844K;ENSP00000412229:Q826K;ENSP00000448278:Q762K;ENSP00000446764:Q762K;ENSP00000441971:Q538K;ENSP00000401205:Q538K;ENSP00000412130:Q853K;ENSP00000437784:Q647K;ENSP00000432436:Q845K;ENSP00000432067:Q762K	ENSP00000307885:Q827K	Q	-	1	0	MRVI1	10554637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.488000	0.53229	1.432000	0.47375	0.655000	0.94253	CAA	MRVI1	-	pfam_MRVI1	ENSG00000072952		0.448	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding			0	48	0	G	NM_001098579		10598061	-1			no_errors	ENST00000421747	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	10598061	G	T	10598061	3	4	166	1	0	0	0	0	1	0	0	0	9891	1328	46	3	185	3	MRVI1	11	10598061	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	9913113	10598061	124408455	130	41898											
SLC17A6	57084	genome.wustl.edu	37	chr11	22396367	22396367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctattgggggacaaattGcagattttctaagaagcaag	13	11	11	6	0	1	2	0	0	1	2	1	3	1	3	1	2	3	2	1	2	5	6			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:22396367G>T	ENST00000263160.3	+	9	1545	c.1108G>T	c.(1108-1110)Gca>Tca	p.A370S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	370					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGGACAAATTGCAGATTTTCT	0.383																																																	0													224	220	221					11																	22396367		2203	4300	6503	SO:0001583	missense	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1108G>T	11.37:g.22396367G>T	ENSP00000263160:p.Ala370Ser		A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A370S	ENST00000263160.3	37	c.1108	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.375581	0.95923	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.56444	0.46	5.95	5.95	0.96441	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	L	0.42581	1.335	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	T	0.63712	-0.6575	10	0.46703	T	0.11	.	20.3728	0.98895	0.0:0.0:1.0:0.0	.	370	Q9P2U8	VGLU2_HUMAN	S	370;258	ENSP00000263160:A370S	ENSP00000263160:A370S	A	+	1	0	SLC17A6	22352943	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.424000	0.97464	2.826000	0.97356	0.579000	0.79373	GCA	SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000091664		0.383	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0	81	0	G	NM_020346		22396367	1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	42.86	20	15	SNP	1.000	T	T	22396367	G	T	22396367	3	4	166	1	0	0	0	0	1	0	0	0	14466	1319	46	3	1142	3	SLC17A6	11	22396367	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	11798306	22396367	112610149	131	41899											
ACCSL	390110	genome.wustl.edu	37	chr11	44073269	44073269	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttctgtgtgatccaggcGgtaagtcagtgggctctcct	5	13	14	9	1	3	1	1	1	2	0	5	1	4	1	2	4	0	3	2	4	1	2	rs199907490		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:44073269G>A	ENST00000378832.1	+	5	828	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	258					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						TGATCCAGGCGGTAAGTCAGT	0.507																																																	0													254	241	245					11																	44073269		2077	4215	6292	SO:0001630	splice_region_variant	0				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.772+1G>A	11.37:g.44073269G>A				Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.E258K	ENST00000378832.1	37	c.772	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344133	0.41498	.	.	ENSG00000205126	ENST00000378832	T	0.22743	1.94	4.75	3.83	0.44106	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.276195	0.41001	N	0.000969	T	0.39118	0.1066	M	0.92970	3.365	0.40856	D	0.983791	P	0.44659	0.84	P	0.45343	0.477	T	0.53287	-0.8460	10	0.72032	D	0.01	-3.4901	10.9375	0.47253	0.0918:0.0:0.9082:0.0	.	258	Q4AC99	1A1L2_HUMAN	K	258	ENSP00000368109:E258K	ENSP00000368109:E258K	E	+	1	0	ACCSL	44029845	1.000000	0.71417	0.847000	0.33407	0.313000	0.28021	7.516000	0.81772	1.211000	0.43351	0.655000	0.94253	GAG	ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000205126		0.507	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	-	0	34	0	G	NM_001031854	Missense_Mutation	44073269	1	tier1	rs199907490	no_errors	ENST00000378832	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.996	A	A	44073269	G	A	44073269	5	1	166	1	0	0	0	0	0	0	1	0	134	1130	39	1	790	1	ACCSL	11	44073269	Splice_Site	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	21676902	44073269	90933247	132	41900											
LRP4	4038	genome.wustl.edu	37	chr11	46911974	46911974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgggtatcggcaatgatgCggcgtccagagccatccatg	9	8	14	10	3	0	2	0	1	0	1	3	3	2	2	3	3	2	2	3	3	2	1	rs149435615		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:46911974C>T	ENST00000378623.1	-	14	2011	c.1769G>A	c.(1768-1770)cGc>cAc	p.R590H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	590					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)		GGCAATGATGCGGCGTCCAGA	0.547											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	61	55	57		1769	4.8	1	11	dbSNP_134	57	3,8595	3.0+/-9.4	0,3,4296	yes	missense	LRP4	NM_002334.3	29	0,5,6495	TT,TC,CC		0.0349,0.0454,0.0385	benign	590/1906	46911974	5,12995	2201	4299	6500	SO:0001583	missense	0			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.1769G>A	11.37:g.46911974C>T	ENSP00000367888:p.Arg590His	942	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R590H	ENST00000378623.1	37	c.1769	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117355	0.77323	4.54E-4	3.49E-4	ENSG00000134569	ENST00000378623	D	0.93659	-3.26	5.73	4.82	0.62117	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.89736	0.6801	L	0.48935	1.535	0.58432	D	0.999999	P	0.35481	0.504	B	0.30855	0.121	D	0.88413	0.3023	10	0.37606	T	0.19	.	14.9247	0.70868	0.0:0.9314:0.0:0.0686	.	590	O75096	LRP4_HUMAN	H	590	ENSP00000367888:R590H	ENSP00000367888:R590H	R	-	2	0	LRP4	46868550	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.875000	0.63072	1.558000	0.49541	0.655000	0.94253	CGC	LRP4	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000134569		0.547	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1		0	40	0	C	NM_002334		46911974	-1			no_errors	ENST00000378623	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T	T	46911974	C	T	46911974	3	4	166	1	0	0	0	0	1	0	0	0	8994	768	27	1	4048	1	LRP4	11	46911974	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	2838705	46911974	88094542	133	41901											
OR5AP2	338675	genome.wustl.edu	37	chr11	56409234	56409234	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcttcaagacggcaatgaAgatacacaggtaggaaatga	17	7	10	7	1	2	4	1	2	1	2	2	5	2	5	0	3	1	2	0	3	6	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:56409234A>T	ENST00000302981.1	-	1	681	c.682T>A	c.(682-684)Ttc>Atc	p.F228I	OR5AP2_ENST00000544374.1_Missense_Mutation_p.F229I	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F228L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						ACGGCAATGAAGATACACAGG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											180	167	171					11																	56409234		2201	4296	6497	SO:0001583	missense	0			AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.682T>A	11.37:g.56409234A>T	ENSP00000303111:p.Phe228Ile		B2RNM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F229I	ENST00000302981.1	37	c.685	CCDS31534.1	11	.	.	.	.	.	.	.	.	.	.	A	6.459	0.452870	0.12283	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00123	8.7;8.7	5.09	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.318367	0.22837	N	0.055026	T	0.00073	0.0002	N	0.04705	-0.18	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.01762	-1.1279	10	0.09843	T	0.71	.	8.4892	0.33089	0.0801:0.2918:0.6281:0.0	.	228	Q8NGF4	O5AP2_HUMAN	I	229;228	ENSP00000442701:F229I;ENSP00000303111:F228I	ENSP00000303111:F228I	F	-	1	0	OR5AP2	56165810	0.054000	0.20591	1.000000	0.80357	0.989000	0.77384	0.189000	0.17037	0.710000	0.31997	-0.261000	0.10672	TTC	OR5AP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172464		0.443	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OR5AP2	HGNC	protein_coding	OTTHUMT00000391613.1		0	66	0	A	NM_001002925		56409234	-1			no_errors	ENST00000544374	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.108	T	T	56409234	A	T	56409234	3	4	166	1	0	0	0	0	1	0	0	0	11183	72	3	5	272	5	OR5AP2	11	56409234	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	9497260	56409234	78597282	134	41902											
DTX4	23220	genome.wustl.edu	37	chr11	58949853	58949853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggacccaacagcaagaccGgaagggtggccctggccacc	11	2	13	15	1	0	1	0	0	0	1	0	3	0	3	5	5	2	1	5	5	3	0	rs370919698		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:58949853G>A	ENST00000227451.3	+	2	957	c.853G>A	c.(853-855)Gga>Aga	p.G285R	DTX4_ENST00000532982.1_Missense_Mutation_p.G179R	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	285					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G179R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CAGCAAGACCGGAAGGGTGGC	0.637																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						G	ARG/GLY	0,3988		0,0,1994	31	40	37		853	4.5	0.9	11		37	1,8317		0,1,4158	no	missense	DTX4	NM_015177.1	125	0,1,6152	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	285/620	58949853	1,12305	1994	4159	6153	SO:0001583	missense	0			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.853G>A	11.37:g.58949853G>A	ENSP00000227451:p.Gly285Arg		Q0VF38	Missense_Mutation	SNP	pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.G285R	ENST00000227451.3	37	c.853	CCDS44612.1	11	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222617	0.39300	0.0	1.2E-4	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.12039	2.72;2.92	4.53	4.53	0.55603	.	0.351406	0.26268	N	0.025360	T	0.17023	0.0409	L	0.51422	1.61	0.31899	N	0.616208	D	0.57257	0.979	P	0.50192	0.634	T	0.05146	-1.0903	10	0.26408	T	0.33	.	8.4077	0.32625	0.1048:0.0:0.8952:0.0	.	285	Q9Y2E6	DTX4_HUMAN	R	179;285	ENSP00000434055:G179R;ENSP00000227451:G285R	ENSP00000227451:G285R	G	+	1	0	DTX4	58706429	0.698000	0.27777	0.939000	0.37840	0.930000	0.56654	0.580000	0.23803	2.358000	0.79984	0.655000	0.94253	GGA	DTX4	-	NULL	ENSG00000110042		0.637	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	HGNC	protein_coding	OTTHUMT00000394228.1		0	88	0	G	XM_166213		58949853	1			no_errors	ENST00000227451	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.946	A	A	58949853	G	A	58949853	3	1	166	1	0	0	0	0	1	0	0	0	4811	1117	39	1	859	1	DTX4	11	58949853	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	2540619	58949853	76056663	135	41903											
AHNAK	79026	genome.wustl.edu	37	chr11	62299653	62299653	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	catcttgggcatcttcaagtGccagtctgggccatgaacat	9	11	10	11	0	4	1	1	1	3	0	4	1	4	1	2	2	2	1	2	2	2	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:62299653G>A	ENST00000378024.4	-	5	2510	c.2236C>T	c.(2236-2238)Cac>Tac	p.H746Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	746					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)				ATCTTCAAGTGCCAGTCTGGG	0.507																																																	0													229	220	223					11																	62299653		2202	4299	6501	SO:0001583	missense	0			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.2236C>T	11.37:g.62299653G>A	ENSP00000367263:p.His746Tyr		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H746Y	ENST00000378024.4	37	c.2236	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983996	0.35036	.	.	ENSG00000124942	ENST00000378024	T	0.00882	5.58	4.95	2.84	0.33178	.	.	.	.	.	T	0.06554	0.0168	M	0.90425	3.115	0.21184	N	0.999764	D	0.65815	0.995	D	0.73380	0.98	T	0.03493	-1.1031	9	0.62326	D	0.03	-7.0444	11.7057	0.51595	0.0:0.0:0.6254:0.3746	.	746	Q09666	AHNK_HUMAN	Y	746	ENSP00000367263:H746Y	ENSP00000367263:H746Y	H	-	1	0	AHNAK	62056229	0.592000	0.26832	0.998000	0.56505	0.766000	0.43426	1.174000	0.31932	2.293000	0.77203	0.455000	0.32223	CAC	AHNAK	-	NULL	ENSG00000124942		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	134	0	G	NM_024060		62299653	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.827	A	A	62299653	G	A	62299653	3	1	166	1	0	0	0	0	1	0	0	0	414	1319	46	3	15556	3	AHNAK	11	62299653	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	3349800	62299653	72706863	136	41904											
DLG2	1740	genome.wustl.edu	37	chr11	83344363	83344363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattttggcctcaaatcgagCgtaatctgggaatgaaaaca	14	10	10	7	2	2	1	1	1	1	0	3	4	2	2	1	2	2	1	1	2	5	3	rs149941661		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:83344363C>T	ENST00000532653.1	-	14	1818	c.1516G>A	c.(1516-1518)Gct>Act	p.A506T	DLG2_ENST00000330014.6_Missense_Mutation_p.A445T|DLG2_ENST00000398309.2_Missense_Mutation_p.A506T|DLG2_ENST00000531015.1_Missense_Mutation_p.A473T|DLG2_ENST00000376104.2_Missense_Mutation_p.A611T|DLG2_ENST00000530800.1_Missense_Mutation_p.A15T|DLG2_ENST00000524982.1_Missense_Mutation_p.A506T|DLG2_ENST00000426717.2_5'UTR|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.A545T|DLG2_ENST00000543673.1_Missense_Mutation_p.A611T|DLG2_ENST00000418306.2_Missense_Mutation_p.A403T|DLG2_ENST00000537455.1_Missense_Mutation_p.A260T|DLG2_ENST00000404783.3_5'UTR|DLG2_ENST00000398304.1_5'UTR			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	244	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)				TCAAATCGAGCGTAATCTGGG	0.522																																																	0													97	96	96					11																	83344363		1987	4162	6149	SO:0001583	missense	0			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.1516G>A	11.37:g.83344363C>T	ENSP00000435849:p.Ala506Thr		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.A611T	ENST00000532653.1	37	c.1831		11	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741304	0.69304	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000530800;ENST00000434967	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	6.16	6.16	0.99307	PDZ/DHR/GLGF (1);	0.077659	0.49916	D	0.000133	T	0.32255	0.0823	N	0.14661	0.345	0.80722	D	1	P;P;B;P;B;B;P	0.43662	0.454;0.624;0.025;0.482;0.231;0.025;0.814	B;B;B;B;B;B;B	0.36244	0.075;0.136;0.011;0.136;0.043;0.012;0.22	T	0.07271	-1.0781	9	.	.	.	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	473;506;506;445;611;506;403	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;DLG2_HUMAN;.	T	506;611;403;611;545;445;260;506;506;611;473;15;17	ENSP00000381355:A506T;ENSP00000365272:A611T;ENSP00000402275:A403T;ENSP00000441994:A611T;ENSP00000280241:A545T;ENSP00000381353:A445T;ENSP00000443248:A260T;ENSP00000432894:A506T;ENSP00000435849:A506T;ENSP00000433848:A473T	.	A	-	1	0	DLG2	83022011	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.507000	0.53371	2.937000	0.99478	0.650000	0.86243	GCT	DLG2	-	superfamily_PDZ,pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.522	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2		0	112	0	C	NM_001364		83344363	-1			no_errors	ENST00000376104	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	83344363	C	T	83344363	3	4	166	1	0	0	0	0	1	0	0	0	4569	768	27	1	1186	1	DLG2	11	83344363	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	21044710	83344363	51662153	137	41905											
NFRKB	4798	genome.wustl.edu	37	chr11	129739725	129739725	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtcagccacactcacGccaagagctggcatcaagcg	10	7	10	14	2	4	1	3	0	1	1	4	1	4	1	2	2	3	2	2	2	2	1	rs145603126		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:129739725G>A	ENST00000446488.3	-	23	3298	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G	NFRKB_ENST00000524746.1_Silent_p.G1065G|NFRKB_ENST00000304521.5_Silent_p.G1065G|NFRKB_ENST00000524794.1_Silent_p.G1090G	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1065					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)		CCACACTCACGCCAAGAGCTG	0.547																																																	0								G	,	0,4402		0,0,2201	81	75	77		3195,3270	-3.1	0.9	11	dbSNP_134	77	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous,coding-synonymous	NFRKB	NM_001143835.1,NM_006165.3	,	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	,	1065/1300,1090/1325	129739725	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	0				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.3195C>T	11.37:g.129739725G>A			Q12869|Q15312|Q9H048	Silent	SNP	NULL	p.G1090	ENST00000446488.3	37	c.3270	CCDS44770.1	11																																																																																			NFRKB	-	NULL	ENSG00000170322		0.547	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFRKB	HGNC	protein_coding	OTTHUMT00000386063.2		0	27	0	G	NM_006165		129739725	-1			no_errors	ENST00000524794	ensembl	human	known	74_37	silent	15.38	11	2	SNP	0.906	A	A	129739725	G	A	129739725	2	1	166	1	0	0	0	0	0	0	0	1	10423	1074	38	1		1	NFRKB	11	129739725	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	46395362	129739725	5266791	138	41906											
WNK1	65125	genome.wustl.edu	37	chr12	977829	977829	+	Intron	SNP	A	A	G	1	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	acaccaagctcctcttcaggAgaaggaggtggaattttacc	12	9	10	10	0	2	1	1	0	1	1	3	4	3	3	3	4	2	1	3	4	4	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:977829A>G	ENST00000315939.6	+	9	2782				WNK1_ENST00000340908.4_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000574564.1_Silent_p.G278G|WNK1_ENST00000530271.2_Silent_p.G1064G|WNK1_ENST00000537687.1_Silent_p.G979G	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTCTTCAGGAGAAGGAGGTG	0.443																																					Colon(19;451 567 6672 12618 28860)												0													45	45	45					12																	977829		1925	4126	6051	SO:0001627	intron_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2602A>G	12.37:g.977829A>G			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G1064	ENST00000315939.6	37	c.3192	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.443	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	-	0	42	0	A	NM_018979		977829	1	tier1	-	no_errors	ENST00000530271	ensembl	human	known	74_37	silent	18.75	13	3	SNP	1.000	G	G	977829	A	G	977829	1	3	166	0	1	0	0	0	0	0	0	0	17426	291	11	4		4	WNK1	12	977829	Intron	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09		977829	132874066	139	41907											
AKAP3	10566	genome.wustl.edu	37	chr12	4736873	4736873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaataactctcagccttgtCttgggctttcctgacatgct	7	14	9	11	0	2	1	1	1	2	0	4	2	3	2	2	2	3	2	2	2	2	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:4736873C>T	ENST00000545990.2	-	5	1719	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	AKAP3_ENST00000228850.1_Missense_Mutation_p.D399N|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	399					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCAGCCTTGTCTTGGGCTTTC	0.428																																																	0													161	157	159					12																	4736873		2203	4300	6503	SO:0001583	missense	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1195G>A	12.37:g.4736873C>T	ENSP00000440994:p.Asp399Asn		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.D399N	ENST00000545990.2	37	c.1195	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	12.53	1.967051	0.34754	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08546	3.08;3.08	5.67	5.67	0.87782	A-kinase anchor 110kDa, C-terminal (1);	0.274732	0.31884	N	0.006908	T	0.20740	0.0499	M	0.68317	2.08	0.34586	D	0.715	P	0.52577	0.954	P	0.53313	0.723	T	0.04320	-1.0960	10	0.54805	T	0.06	-21.7841	15.6217	0.76810	0.0:1.0:0.0:0.0	.	399	O75969	AKAP3_HUMAN	N	399	ENSP00000228850:D399N;ENSP00000440994:D399N	ENSP00000228850:D399N	D	-	1	0	AKAP3	4607134	0.878000	0.30173	0.250000	0.24296	0.009000	0.06853	1.370000	0.34238	2.837000	0.97791	0.655000	0.94253	GAC	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.428	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2		0	18	0	C	NM_006422		4736873	-1			no_errors	ENST00000228850	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.750	T	T	4736873	C	T	4736873	3	4	166	1	0	0	0	0	1	0	0	0	452	913	32	3	1374	3	AKAP3	12	4736873	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	3759044	4736873	129115022	140	41908											
KCNA1	3736	genome.wustl.edu	37	chr12	5021930	5021930	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagatcgaagaggatatgaaTaatagcatagcccattatag	17	9	10	5	1	0	3	0	1	0	2	1	6	0	4	1	1	2	1	1	1	8	6			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:5021930T>A	ENST00000382545.3	+	2	2493	c.1386T>A	c.(1384-1386)aaT>aaA	p.N462K	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)	462					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)	AGGATATGAATAATAGCATAG	0.448																																																	0													174	171	172					12																	5021930		2203	4300	6503	SO:0001583	missense	0			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.1386T>A	12.37:g.5021930T>A	ENSP00000371985:p.Asn462Lys		A6NM83|Q3MIQ9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.N462K	ENST00000382545.3	37	c.1386	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	T	5.671	0.308400	0.10733	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.95949	-3.86	5.35	2.62	0.31277	.	0.103230	0.64402	D	0.000005	D	0.86904	0.6045	N	0.16368	0.405	0.58432	D	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.76085	-0.3088	10	0.06099	T	0.92	.	8.1381	0.31067	0.0:0.2008:0.0:0.7992	.	462	Q09470	KCNA1_HUMAN	K	462	ENSP00000371985:N462K	ENSP00000228858:N462K	N	+	3	2	KCNA1	4892191	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.982000	0.49337	0.423000	0.26033	0.533000	0.62120	AAT	KCNA1	-	NULL	ENSG00000111262		0.448	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	-	0	42	0	T	NM_000217		5021930	1	tier1	-	no_errors	ENST00000382545	ensembl	human	known	74_37	missense	30.00	14	6	SNP	1.000	A	A	5021930	T	A	5021930	3	1	166	1	0	0	0	0	1	0	0	0	8028	1403	49	5	1388	5	KCNA1	12	5021930	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	285057	5021930	128829965	141	41909											
NCAPD2	9918	genome.wustl.edu	37	chr12	6637976	6637976	+	Missense_Mutation	SNP	A	A	T	1	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	gctcatcgaccccgagcctcAgattgctgccctggccaaga	8	7	10	16	2	2	2	2	0	0	2	3	4	2	2	5	1	3	2	5	1	1	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:6637976A>T	ENST00000315579.5	+	26	4230	c.3431A>T	c.(3430-3432)cAg>cTg	p.Q1144L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q1099L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1144					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						CCCGAGCCTCAGATTGCTGCC	0.597																																																	0													69	66	67					12																	6637976		2203	4300	6503	SO:0001583	missense	0			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.3431A>T	12.37:g.6637976A>T	ENSP00000325017:p.Gln1144Leu		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.Q1144L	ENST00000315579.5	37	c.3431	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	A	14.64	2.594935	0.46318	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.11821	2.74;2.74	5.43	2.96	0.34315	Armadillo-like helical (1);Armadillo-type fold (1);	0.491952	0.23791	N	0.044525	T	0.11324	0.0276	N	0.24115	0.695	0.30566	N	0.763955	B;B	0.26081	0.141;0.074	B;B	0.29942	0.066;0.109	T	0.06534	-1.0821	10	0.56958	D	0.05	-3.4486	13.4883	0.61379	0.58:0.42:0.0:0.0	.	1099;1144	F5GZJ1;Q15021	.;CND1_HUMAN	L	1144;1099	ENSP00000325017:Q1144L;ENSP00000444417:Q1099L	ENSP00000325017:Q1144L	Q	+	2	0	NCAPD2	6508237	1.000000	0.71417	0.332000	0.25469	0.977000	0.68977	3.145000	0.50623	0.439000	0.26476	0.533000	0.62120	CAG	NCAPD2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.597	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1		0	63	0	A	NM_014865		6637976	1			no_errors	ENST00000315579	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.994	T	T	6637976	A	T	6637976	3	4	166	1	0	0	0	0	1	0	0	0	10244	188	7	5	3529	5	NCAPD2	12	6637976	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	1616046	6637976	127213919	142	41910											
PIK3C2G	5288	genome.wustl.edu	37	chr12	18435079	18435079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaagcagtatgaacacCaagaatttctctttgtaaat	17	11	6	7	1	1	2	0	1	1	1	2	3	1	2	1	0	2	3	1	0	8	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:18435079C>A	ENST00000266497.5	+	1	102	c.64C>A	c.(64-66)Caa>Aaa	p.Q22K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Q22K|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.Q22K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Q22K|RERGL_ENST00000541632.1_Intron			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	22					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)	p.Q22*(2)		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)				GTATGAACACCAAGAATTTCT	0.388																																																	2	Substitution - Nonsense(2)	skin(2)											63	59	61					12																	18435079		1854	4098	5952	SO:0001583	missense	0			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.64C>A	12.37:g.18435079C>A	ENSP00000266497:p.Gln22Lys		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.Q22K	ENST00000266497.5	37	c.64	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	C	6.569	0.473309	0.12461	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.61392	1.46;0.11;0.11;0.14	4.37	2.42	0.29668	.	0.959848	0.08620	N	0.918582	T	0.43831	0.1265	L	0.32530	0.975	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.002	T	0.28650	-1.0037	10	0.29301	T	0.29	-1.4232	6.8361	0.23937	0.2239:0.5954:0.1807:0.0	.	22;22	F5H369;O75747	.;P3C2G_HUMAN	K	22	ENSP00000443850:Q22K;ENSP00000404845:Q22K;ENSP00000266497:Q22K;ENSP00000445381:Q22K	ENSP00000266497:Q22K	Q	+	1	0	PIK3C2G	18326346	0.017000	0.18338	0.024000	0.17045	0.431000	0.31685	0.961000	0.29267	0.698000	0.31739	0.655000	0.94253	CAA	PIK3C2G	-	NULL	ENSG00000139144		0.388	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1		0	53	0	C	NM_004570		18435079	1			no_errors	ENST00000538779	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.032	A	A	18435079	C	A	18435079	3	1	166	1	0	0	0	0	1	0	0	0	11950	595	21	3	66	3	PIK3C2G	12	18435079	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	11797103	18435079	115416816	143	41911											
PYROXD1	79912	genome.wustl.edu	37	chr12	21614963	21614963	+	Missense_Mutation	SNP	A	A	G	1	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	gatgtggcctgtctatgtggAattgaccaatgaaaagatat	13	12	11	5	0	1	3	0	2	1	1	1	5	1	4	2	2	0	0	2	2	6	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:21614963A>G	ENST00000240651.9	+	9	956	c.902A>G	c.(901-903)gAa>gGa	p.E301G	PYROXD1_ENST00000538582.1_Missense_Mutation_p.E230G|PYROXD1_ENST00000545178.1_3'UTR	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	301							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GTCTATGTGGAATTGACCAAT	0.373																																																	0													93	86	88					12																	21614963		2203	4300	6503	SO:0001583	missense	0			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.902A>G	12.37:g.21614963A>G	ENSP00000240651:p.Glu301Gly		A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase	p.E301G	ENST00000240651.9	37	c.902	CCDS31755.1	12	.	.	.	.	.	.	.	.	.	.	A	15.62	2.886254	0.51908	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	.	.	.	5.42	5.42	0.78866	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.101907	0.64402	D	0.000002	T	0.59238	0.2179	L	0.58428	1.81	0.80722	D	1	B	0.18863	0.031	B	0.23716	0.048	T	0.55256	-0.8169	9	0.24483	T	0.36	.	14.6354	0.68686	1.0:0.0:0.0:0.0	.	301	Q8WU10	PYRD1_HUMAN	G	7;301;230	.	ENSP00000240651:E301G	E	+	2	0	PYROXD1	21506230	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.070000	0.64376	2.055000	0.61198	0.460000	0.39030	GAA	PYROXD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000121350		0.373	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD1	HGNC	protein_coding	OTTHUMT00000402363.1	-	0	32	0	A	NM_024854		21614963	1	tier1	-	no_errors	ENST00000240651	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	G	G	21614963	A	G	21614963	3	3	166	1	0	0	0	0	1	0	0	0	12911	246	9	4	936	4	PYROXD1	12	21614963	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	3179884	21614963	112236932	144	41912											
FAR2	55711	genome.wustl.edu	37	chr12	29423409	29423409	+	Silent	SNP	C	C	G	0	0	0	1	1	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	acaattgcagctttctatggCggcaagtccattctcatcac	10	12	7	12	1	3	0	2	0	2	0	5	0	4	0	1	2	2	3	1	2	3	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:29423409C>G	ENST00000536681.3	+	2	273	c.27C>G	c.(25-27)ggC>ggG	p.G9G	FAR2_ENST00000182377.4_Silent_p.G9G|FAR2_ENST00000547116.1_Intron	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	9					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)	p.G9G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTTTCTATGGCGGCAAGTCCA	0.458																																																	1	Substitution - coding silent(1)	lung(1)											68	69	68					12																	29423409		2203	4300	6503	SO:0001819	synonymous_variant	0			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.27C>G	12.37:g.29423409C>G			F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like	p.G9	ENST00000536681.3	37	c.27	CCDS8717.1	12																																																																																			FAR2	-	NULL	ENSG00000064763		0.458	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	HGNC	protein_coding	OTTHUMT00000403479.2	-	0	38	0	C	NM_018099		29423409	1	tier1	-	no_errors	ENST00000182377	ensembl	human	known	74_37	silent	20.00	24	6	SNP	0.009	G	G	29423409	C	G	29423409	2	3	166	1	0	0	0	0	0	0	0	1	5697	755	27	5		5	FAR2	12	29423409	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	7808446	29423409	104428486	145	41913											
YARS2	51067	genome.wustl.edu	37	chr12	32908126	32908126	+	Missense_Mutation	SNP	T	T	C	0	1	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	gctggaagaggtaatagaagTcataggcctggagcacctgg	12	7	15	7	0	1	2	1	0	0	2	1	4	1	4	2	5	1	3	2	5	5	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:32908126T>C	ENST00000324868.8	-	1	710	c.683A>G	c.(682-684)gAc>gGc	p.D228G		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	228					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)	GTAATAGAAGTCATAGGCCTG	0.552											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													101	107	105					12																	32908126		2203	4300	6503	SO:0001583	missense	0			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.683A>G	12.37:g.32908126T>C	ENSP00000320658:p.Asp228Gly	836	D3DUW8|Q9H817	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.D228G	ENST00000324868.8	37	c.683	CCDS31770.1	12	.	.	.	.	.	.	.	.	.	.	T	26.7	4.765136	0.90020	.	.	ENSG00000139131	ENST00000324868	T	0.78003	-1.14	5.33	5.33	0.75918	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.046825	0.85682	D	0.000000	D	0.91516	0.7321	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93877	0.7167	10	0.87932	D	0	-9.7004	14.0944	0.65010	0.0:0.0:0.0:1.0	.	228	Q9Y2Z4	SYYM_HUMAN	G	228	ENSP00000320658:D228G	ENSP00000320658:D228G	D	-	2	0	YARS2	32799393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.598000	0.82745	2.247000	0.74100	0.524000	0.50904	GAC	YARS2	-	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	ENSG00000139131		0.552	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS2	HGNC	protein_coding	OTTHUMT00000404153.1	-	0	62	0	T	NM_015936		32908126	-1	tier1	-	no_errors	ENST00000324868	ensembl	human	known	74_37	missense	41.18	40	28	SNP	1.000	C	C	32908126	T	C	32908126	3	2	166	1	0	0	0	0	1	0	0	0	17517	1667	58	4	770	4	YARS2	12	32908126	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	3484717	32908126	100943769	146	41914											
ARID2	196528	genome.wustl.edu	37	chr12	46285565	46285565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttttattttttataggtGgtttcagacaccctcacagg	9	17	7	8	0	2	1	2	0	0	1	2	1	2	1	1	3	1	1	1	3	4	8			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:46285565G>T	ENST00000334344.6	+	17	5097	c.4925G>T	c.(4924-4926)tGg>tTg	p.W1642L	ARID2_ENST00000457135.1_Missense_Mutation_p.W250L|ARID2_ENST00000444670.1_Missense_Mutation_p.W1252L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.W1493L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1642					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)	p.W1642L(1)		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)		TTTTATAGGTGGTTTCAGACA	0.363			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Missense(1)	lung(1)											71	71	71					12																	46285565		2203	4300	6503	SO:0001583	missense	0				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.4925G>T	12.37:g.46285565G>T	ENSP00000335044:p.Trp1642Leu		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.W1642L	ENST00000334344.6	37	c.4925	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378413	0.61735	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.30981	1.51	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.125927	0.64402	D	0.000019	T	0.48554	0.1506	L	0.46157	1.445	0.80722	D	1	D;D;P	0.71674	0.998;0.998;0.47	D;D;B	0.80764	0.994;0.994;0.33	T	0.20240	-1.0281	10	0.19147	T	0.46	-2.5051	19.0281	0.92941	0.0:0.0:1.0:0.0	.	1642;1252;1642	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	L	1642;759;759;1493;1252;250	ENSP00000335044:W1642L	ENSP00000335044:W1642L	W	+	2	0	ARID2	44571832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.233000	0.95337	2.553000	0.86117	0.655000	0.94253	TGG	ARID2	-	NULL	ENSG00000189079		0.363	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	-	0	31	0	G	XM_350875		46285565	1	tier1	-	no_errors	ENST00000334344	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T	T	46285565	G	T	46285565	3	4	166	1	0	0	0	0	1	0	0	0	915	1357	47	3	4991	3	ARID2	12	46285565	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	13377439	46285565	87566330	147	41915											
SFRS2IP	9169	genome.wustl.edu	37	chr12	46320784	46320784	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttttctcctggggaagaAtctttcactcttggctgaga	8	15	10	8	0	4	2	1	1	3	2	5	5	4	3	1	3	0	1	1	3	2	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:46320784A>T	ENST00000369367.3	-	11	2933	c.2700T>A	c.(2698-2700)gaT>gaA	p.D900E	SCAF11_ENST00000549162.1_Missense_Mutation_p.D708E|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Missense_Mutation_p.D585E|SCAF11_ENST00000419565.2_Missense_Mutation_p.D900E	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	900	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTGGGGAAGAATCTTTCACTC	0.448																																																	0													126	131	129					12																	46320784		2203	4300	6503	SO:0001583	missense	0			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.2700T>A	12.37:g.46320784A>T	ENSP00000358374:p.Asp900Glu		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.D900E	ENST00000369367.3	37	c.2700	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	A	18.22	3.576372	0.65878	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.57107	1.02;1.5;1.01;1.5;0.42	5.93	0.723	0.18231	.	0.078405	0.53938	N	0.000043	T	0.40932	0.1137	L	0.54323	1.7	0.29618	N	0.846412	B;B	0.27997	0.197;0.049	B;B	0.28465	0.09;0.026	T	0.27640	-1.0068	10	0.28530	T	0.3	-15.4289	6.4374	0.21831	0.5481:0.1246:0.3273:0.0	.	708;900	F8VXG7;Q99590	.;SCAFB_HUMAN	E	585;900;708;900;840	ENSP00000449812:D585E;ENSP00000358374:D900E;ENSP00000448864:D708E;ENSP00000413036:D900E;ENSP00000446746:D840E	ENSP00000358374:D900E	D	-	3	2	SCAF11	44607051	0.090000	0.21635	0.970000	0.41538	0.992000	0.81027	0.133000	0.15912	0.132000	0.18615	0.533000	0.62120	GAT	SCAF11	-	NULL	ENSG00000139218		0.448	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	-	0	34	0	A	NM_004719		46320784	-1	tier1	-	no_errors	ENST00000369367	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.935	T	T	46320784	A	T	46320784	3	4	166	1	0	0	0	0	1	0	0	0	14222	98	4	5	1711	5	SFRS2IP	12	46320784	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	35219	46320784	87531111	148	41916											
MLL2	8085	genome.wustl.edu	37	chr12	49416552	49416552	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgcgcagccgccggtactGagatgacttggagtgcacaa	9	7	15	10	3	0	2	0	2	0	1	0	4	0	3	2	3	4	3	2	3	2	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:49416552G>A	ENST00000301067.7	-	51	16158	c.16159C>T	c.(16159-16161)Cag>Tag	p.Q5387*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5387					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)	p.Q5387*(1)|p.Q5117*(1)									CGCCGGTACTGAGATGACTTG	0.562																																																	2	Substitution - Nonsense(2)	urinary_tract(2)											110	122	118					12																	49416552		2099	4220	6319	SO:0001587	stop_gained	0			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.16159C>T	12.37:g.49416552G>A	ENSP00000301067:p.Gln5387*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q5387*	ENST00000301067.7	37	c.16159	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	56	26.644177	0.99969	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	.	.	.	5.09	5.09	0.68999	.	0.000000	0.33938	N	0.004409	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6392	0.88130	0.0:0.0:1.0:0.0	.	.	.	.	X	5387;68	.	ENSP00000301067:Q5387X	Q	-	1	0	MLL2	47702819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.760000	0.98935	2.546000	0.85860	0.591000	0.81541	CAG	KMT2D	-	NULL	ENSG00000167548		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	62	0	G			49416552	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense	33.33	20	10	SNP	1.000	A	A	49416552	G	A	49416552	4	1	166	1	0	0	0	0	0	1	0	0	9659	1299	45	3	470	3	MLL2	12	49416552	Nonsense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	3095768	49416552	84435343	149	41917											
ATP5B	506	genome.wustl.edu	37	chr12	57037213	57037213	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggcatcttttaagttgaTaacaccagattcaatcattt	12	15	7	7	0	3	2	2	1	1	1	3	2	3	2	1	2	1	2	1	2	3	6			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:57037213T>A	ENST00000262030.3	-	5	816	c.766A>T	c.(766-768)Atc>Ttc	p.I256F	SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000550162.1_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.I256F	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	256					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						TTTAAGTTGATAACACCAGAT	0.438																																																	0													124	113	117					12																	57037213		2203	4300	6503	SO:0001583	missense	0			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.766A>T	12.37:g.57037213T>A	ENSP00000262030:p.Ile256Phe		A8K4X0|Q14283	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu	p.I256F	ENST00000262030.3	37	c.766	CCDS8924.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.21|18.21	3.574491|3.574491	0.65878|0.65878	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551020;ENST00000551570;ENST00000553007|ENST00000552959	D;D;T;T;D|.	0.81739|.	-1.53;-1.53;-1.28;-1.28;-1.53|.	5.89|5.89	5.89|5.89	0.94794|0.94794	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86041|0.86041	0.5838|0.5838	M|M	0.93720|0.93720	3.45|3.45	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.72075|.	0.976|.	D|D	0.89610|0.89610	0.3841|0.3841	10|5	0.87932|.	D|.	0|.	-6.9769|-6.9769	15.2909|15.2909	0.73865|0.73865	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	256|.	P06576|.	ATPB_HUMAN|.	F|F	256;256;195;49;157|192	ENSP00000262030:I256F;ENSP00000450297:I256F;ENSP00000446677:I195F;ENSP00000448428:I49F;ENSP00000447571:I157F|.	ENSP00000262030:I256F|.	I|Y	-|-	1|2	0|0	ATP5B|ATP5B	55323480|55323480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.906000|7.906000	0.87423|0.87423	2.250000|2.250000	0.74265|0.74265	0.455000|0.455000	0.32223|0.32223	ATC|TAT	ATP5B	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu	ENSG00000110955		0.438	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5B	HGNC	protein_coding	OTTHUMT00000408380.1	-	0	48	0	T	NM_001686		57037213	-1	tier1	-	no_errors	ENST00000262030	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	A	A	57037213	T	A	57037213	3	1	166	1	0	0	0	0	1	0	0	0	1149	1406	49	5	847	5	ATP5B	12	57037213	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	7620661	57037213	76814682	150	41918											
GNS	2799	genome.wustl.edu	37	chr12	65134404	65134404	+	Missense_Mutation	SNP	T	T	C	0	1	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	accttttcctaaatgcattaTctaaaaactgtattgaagaa	16	14	4	7	0	1	2	0	1	1	1	2	2	2	2	2	0	2	2	2	0	9	7			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:65134404T>C	ENST00000258145.3	-	7	1027	c.857A>G	c.(856-858)gAt>gGt	p.D286G	GNS_ENST00000543646.1_Missense_Mutation_p.D318G|GNS_ENST00000542058.1_Missense_Mutation_p.D266G|GNS_ENST00000418919.2_Missense_Mutation_p.D230G	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	286					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)		AAATGCATTATCTAAAAACTG	0.358																																																	0													127	125	126					12																	65134404		2203	4299	6502	SO:0001583	missense	0				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.857A>G	12.37:g.65134404T>C	ENSP00000258145:p.Asp286Gly		B4DYH8|Q53F05	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.D286G	ENST00000258145.3	37	c.857	CCDS8970.1	12	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923401	0.73213	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471;ENST00000545273	D;D;D;D;D	0.99901	-4.92;-5.29;-4.97;-5.02;-7.65	5.47	5.47	0.80525	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	1.0;1.0;0.967;1.0	D	0.96415	0.9307	9	.	.	.	-25.0313	15.8806	0.79201	0.0:0.0:0.0:1.0	.	266;318;286;230	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	G	230;286;318;266;203;223;210	ENSP00000413130:D230G;ENSP00000258145:D286G;ENSP00000438497:D318G;ENSP00000444819:D266G;ENSP00000445055:D210G	.	D	-	2	0	GNS	63420671	1.000000	0.71417	0.995000	0.50966	0.621000	0.37620	7.896000	0.87350	2.209000	0.71365	0.533000	0.62120	GAT	GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	ENSG00000135677		0.358	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	-	0	75	0	T			65134404	-1	tier1	-	no_errors	ENST00000258145	ensembl	human	known	74_37	missense	30.23	30	13	SNP	1.000	C	C	65134404	T	C	65134404	3	2	166	1	0	0	0	0	1	0	0	0	6576	1435	50	4	833	4	GNS	12	65134404	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	8097191	65134404	68717491	151	41919											
C12orf50	160419	genome.wustl.edu	37	chr12	88381723	88381723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtagttagggaatgctttgGatgaggactgtccttgttat	8	15	14	4	0	0	1	0	1	0	0	1	4	1	4	1	4	1	4	1	4	4	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:88381723G>T	ENST00000298699.2	-	9	901	c.721C>A	c.(721-723)Cca>Aca	p.P241T	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	241										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GAATGCTTTGGATGAGGACTG	0.333																																																	0													152	133	140					12																	88381723		2203	4300	6503	SO:0001583	missense	0			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.721C>A	12.37:g.88381723G>T	ENSP00000298699:p.Pro241Thr		Q6P674	Missense_Mutation	SNP	NULL	p.P241T	ENST00000298699.2	37	c.721	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854348	0.71719	.	.	ENSG00000165805	ENST00000298699	T	0.30981	1.51	5.76	5.76	0.90799	.	0.200551	0.35805	N	0.002980	T	0.52901	0.1763	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.47222	-0.9134	10	0.40728	T	0.16	.	15.4619	0.75363	0.0:0.0:1.0:0.0	.	241	Q8NA57	CL050_HUMAN	T	241	ENSP00000298699:P241T	ENSP00000298699:P241T	P	-	1	0	C12orf50	86905854	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.489000	0.60309	2.722000	0.93159	0.650000	0.86243	CCA	C12orf50	-	NULL	ENSG00000165805		0.333	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1		0	99	0	G	NM_152589		88381723	-1			no_errors	ENST00000298699	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	88381723	G	T	88381723	3	4	166	1	0	0	0	0	1	0	0	0	1700	1174	41	3	543	3	C12orf50	12	88381723	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	23247319	88381723	45470172	152	41920											
DCN	1634	genome.wustl.edu	37	chr12	91572284	91572284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctctgttgaaacggtccagCccaggaaacttgtgcaagca	11	9	10	11	1	1	1	0	1	1	0	3	2	2	2	2	2	5	3	2	2	3	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:91572284C>T	ENST00000052754.5	-	2	547	c.46G>A	c.(46-48)Gct>Act	p.A16T	DCN_ENST00000441303.2_Missense_Mutation_p.A16T|DCN_ENST00000228329.5_Missense_Mutation_p.A16T|DCN_ENST00000548768.1_5'Flank|DCN_ENST00000546370.1_Missense_Mutation_p.A16T|DCN_ENST00000547568.2_Missense_Mutation_p.A16T|DCN_ENST00000551354.1_Missense_Mutation_p.A16T|DCN_ENST00000425043.1_Missense_Mutation_p.A16T|DCN_ENST00000550099.1_Missense_Mutation_p.A16T|DCN_ENST00000393155.1_Missense_Mutation_p.A16T|DCN_ENST00000552962.1_Missense_Mutation_p.A16T|DCN_ENST00000420120.2_Missense_Mutation_p.A16T|DCN_ENST00000546745.1_Missense_Mutation_p.A16T|DCN_ENST00000303320.3_Missense_Mutation_p.A16T|DCN_ENST00000456569.2_Missense_Mutation_p.A16T	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	16					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						AACGGTCCAGCCCAGGAAACT	0.463											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89	89	89					12																	91572284		2203	4300	6503	SO:0001583	missense	0			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.46G>A	12.37:g.91572284C>T	ENSP00000052754:p.Ala16Thr	1283	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.A16T	ENST00000052754.5	37	c.46	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.093345	0.94149	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000303320;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000441303;ENST00000547568;ENST00000546391;ENST00000456569;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513;ENST00000546370;ENST00000546745;ENST00000550099;ENST00000551354	T;T;D;T;T;T;T;D;T;T;T;T;T;T	0.81739	0.31;-1.0;-1.53;0.31;-0.13;0.31;-1.0;-1.53;-0.13;-0.02;-0.0;-0.09;-0.0;-1.04	5.91	5.91	0.95273	.	0.045723	0.85682	D	0.000000	D	0.89574	0.6754	M	0.82193	2.58	0.30753	N	0.744954	B;D;D;D;P	0.69078	0.365;0.987;0.997;0.983;0.944	B;P;D;P;P	0.66847	0.115;0.865;0.947;0.808;0.651	D	0.88879	0.3338	10	0.62326	D	0.03	.	15.0603	0.71947	0.1419:0.8581:0.0:0.0	.	16;16;16;16;16	P07585;P07585-5;P07585-4;P07585-3;P07585-2	PGS2_HUMAN;.;.;.;.	T	16	ENSP00000052754:A16T;ENSP00000228329:A16T;ENSP00000302031:A16T;ENSP00000376862:A16T;ENSP00000401021:A16T;ENSP00000447654:A16T;ENSP00000413723:A16T;ENSP00000399815:A16T;ENSP00000447674:A16T;ENSP00000446530:A16T;ENSP00000449782:A16T;ENSP00000447886:A16T;ENSP00000449014:A16T;ENSP00000449438:A16T	ENSP00000052754:A16T	A	-	1	0	DCN	90096415	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.408000	0.66368	2.805000	0.96524	0.460000	0.39030	GCT	DCN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.463	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3		0	67	0	C	NM_133507		91572284	-1			no_errors	ENST00000052754	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	91572284	C	T	91572284	3	4	166	1	0	0	0	0	1	0	0	0	4306	739	26	3	1061	3	DCN	12	91572284	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	3190561	91572284	42279611	153	41921											
TBX5	6910	genome.wustl.edu	37	chr12	114793522	114793522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgggccacggaggtctGgtgctggaacattccctctc	5	10	14	12	1	2	0	0	0	2	0	4	2	3	2	2	6	2	1	2	6	1	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:114793522G>T	ENST00000310346.4	-	9	2038	c.1372C>A	c.(1372-1374)Cag>Aag	p.Q458K	TBX5_ENST00000405440.2_Missense_Mutation_p.Q458K|TBX5_ENST00000349716.5_Missense_Mutation_p.Q408K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	458				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACGGAGGTCTGGTGCTGGAAC	0.657																																					NSCLC(152;1358 1980 4050 23898 40356)												0													27	30	29					12																	114793522		2203	4300	6503	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1372C>A	12.37:g.114793522G>T	ENSP00000309913:p.Gln458Lys		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.Q458K	ENST00000310346.4	37	c.1372	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	6.378	0.437893	0.12104	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.52526	0.66;0.66;0.66	5.42	4.5	0.54988	.	0.972475	0.08513	N	0.934674	T	0.42653	0.1212	L	0.32530	0.975	0.80722	D	1	B	0.22800	0.075	B	0.21151	0.033	T	0.06127	-1.0844	10	0.33940	T	0.23	.	15.8789	0.79189	0.0:0.1359:0.8641:0.0	.	458	Q99593	TBX5_HUMAN	K	408;458;355;458	ENSP00000337723:Q408K;ENSP00000309913:Q458K;ENSP00000384152:Q458K	ENSP00000309913:Q458K	Q	-	1	0	TBX5	113277905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.506000	0.81665	1.233000	0.43693	0.655000	0.94253	CAG	TBX5	-	NULL	ENSG00000089225		0.657	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1		0	95	0	G	NM_080717		114793522	-1			no_errors	ENST00000310346	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	114793522	G	T	114793522	3	4	166	1	0	0	0	0	1	0	0	0	15708	1357	47	3	188	3	TBX5	12	114793522	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	23221238	114793522	19058373	154	41922											
NOS1	4842	genome.wustl.edu	37	chr12	117672482	117672482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtcctcgtggttgccaggGaagacacccaggtggtcccc	7	7	14	13	1	0	1	0	0	0	1	3	2	2	2	5	5	1	1	5	5	1	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:117672482G>A	ENST00000338101.4	-	21	3229	c.3225C>T	c.(3223-3225)ttC>ttT	p.F1075F	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.F1041F			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGTTGCCAGGGAAGACACCCA	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													49	53	52					12																	117672482		2036	4187	6223	SO:0001819	synonymous_variant	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3225C>T	12.37:g.117672482G>A				Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.F1041	ENST00000338101.4	37	c.3123	CCDS55890.1	12																																																																																			NOS1	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	ENSG00000089250		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	-	0	59	0	G			117672482	-1	tier1	-	no_errors	ENST00000317775	ensembl	human	known	74_37	silent	20.00	32	8	SNP	1.000	A	A	117672482	G	A	117672482	2	1	166	1	0	0	0	0	0	0	0	1	10580	1165	41	3		3	NOS1	12	117672482	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	2878960	117672482	16179413	155	41923											
PXN	5829	genome.wustl.edu	37	chr12	120651760	120651760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgtcgaagtagtccttgCgacagtaggccttgccgtcc	8	10	11	12	3	0	0	0	0	0	0	3	2	2	0	4	1	2	2	4	1	3	4	rs372866217		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:120651760C>T	ENST00000228307.7	-	11	1535	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	PXN_ENST00000397506.3_Missense_Mutation_p.R277H|PXN_ENST00000536957.1_Missense_Mutation_p.R463H|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000424649.2_Missense_Mutation_p.R431H|PXN_ENST00000267257.7_Missense_Mutation_p.R479H|PXN_ENST00000458477.2_Missense_Mutation_p.R298H|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000538144.1_5'UTR	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	465	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)					GTAGTCCTTGCGACAGTAGGC	0.597																																																	0													41	48	46					12																	120651760		2051	4194	6245	SO:0001583	missense	0			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.1394G>A	12.37:g.120651760C>T	ENSP00000228307:p.Arg465His		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.R479H	ENST00000228307.7	37	c.1436	CCDS44997.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.447592	0.96205	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000331257;ENST00000541856	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.24	5.24	0.73138	Zinc finger, LIM-type (4);	.	.	.	.	D	0.84651	0.5519	N	0.25031	0.7	0.80722	D	1	D;D;P;P	0.55385	0.971;0.971;0.739;0.95	B;P;B;P	0.48552	0.445;0.576;0.36;0.581	D	0.86947	0.2083	9	0.62326	D	0.03	.	18.8357	0.92162	0.0:1.0:0.0:0.0	.	431;479;277;465	P49023-2;P49023-3;E7EMK8;P49023	.;.;.;PAXI_HUMAN	H	298;465;431;463;479;277;93;190	ENSP00000395536:R298H;ENSP00000228307:R465H;ENSP00000391283:R431H;ENSP00000443887:R463H;ENSP00000267257:R479H;ENSP00000380643:R277H	ENSP00000228307:R465H	R	-	2	0	PXN	119136143	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.648000	0.83479	2.448000	0.82819	0.561000	0.74099	CGC	PXN	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000089159		0.597	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	-	0	71	0	C	NM_002859		120651760	-1	tier1	-	no_errors	ENST00000267257	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	120651760	C	T	120651760	3	4	166	1	0	0	0	0	1	0	0	0	12897	768	27	1	389	1	PXN	12	120651760	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	2979278	120651760	13200135	156	41924											
ANAPC5	51433	genome.wustl.edu	37	chr12	121790048	121790048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcaccgcgatcttgtaCggcgtcacccagtccttgat	8	9	9	15	4	2	1	1	1	1	0	3	2	3	1	4	1	2	2	4	1	1	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:121790048C>T	ENST00000261819.3	-	1	217	c.96G>A	c.(94-96)ccG>ccA	p.P32P	ANAPC5_ENST00000541887.1_Silent_p.P32P	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	32					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)					CGATCTTGTACGGCGTCACCC	0.627																																																	0													85	72	77					12																	121790048		2203	4300	6503	SO:0001819	synonymous_variant	0			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.96G>A	12.37:g.121790048C>T			E9PFB2|Q8N4H7|Q9BQD4	Silent	SNP	smart_TPR_repeat	p.P32	ENST00000261819.3	37	c.96	CCDS9220.1	12																																																																																			ANAPC5	-	NULL	ENSG00000089053		0.627	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	HGNC	protein_coding	OTTHUMT00000402582.1	-	0	33	0	C			121790048	-1	tier1	-	no_errors	ENST00000261819	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.887	T	T	121790048	C	T	121790048	2	4	166	1	0	0	0	0	0	0	0	1	605	523	19	1		1	ANAPC5	12	121790048	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	1138288	121790048	12061847	157	41925											
GPR109A	338442	genome.wustl.edu	37	chr12	123187116	123187116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aaggaagcagatgacaaagaCgatggccaccaccatgatga	17	4	11	9	1	0	5	0	3	0	2	0	7	0	6	3	2	1	1	3	2	3	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:123187116C>T	ENST00000328880.5	-	1	774	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	239					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)	ATGACAAAGACGATGGCCACC	0.552																																																	0													93	79	84					12																	123187116		2203	4297	6500	SO:0001583	missense	0			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.715G>A	12.37:g.123187116C>T	ENSP00000375066:p.Val239Ile		A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V239I	ENST00000328880.5	37	c.715	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660482	0.47572	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.75154	-0.91	4.97	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.195483	0.33217	N	0.005156	T	0.78317	0.4264	L	0.47016	1.485	0.25344	N	0.988925	D	0.67145	0.996	D	0.67900	0.954	T	0.66586	-0.5886	10	0.28530	T	0.3	-43.2297	11.1236	0.48304	0.0:0.9083:0.0:0.0917	.	239	Q8TDS4	HCAR2_HUMAN	I	239	ENSP00000375066:V239I	ENSP00000375066:V239I	V	-	1	0	HCAR2	121753069	0.547000	0.26465	0.907000	0.35723	0.466000	0.32739	1.124000	0.31320	2.746000	0.94184	0.563000	0.77884	GTC	HCAR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000182782		0.552	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	-	0	39	0	C	NM_177551		123187116	-1	tier1	-	no_errors	ENST00000328880	ensembl	human	known	74_37	missense	20.51	30	8	SNP	0.788	T	T	123187116	C	T	123187116	3	4	166	1	0	0	0	0	1	0	0	0	6651	536	19	1	380	1	GPR109A	12	123187116	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	1397068	123187116	10664779	158	41926											
TMEM132D	121256	genome.wustl.edu	37	chr12	129559152	129559152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggatggacctgtctgtCgtggtgccccgtccctccat	4	11	12	14	2	1	0	0	0	1	0	4	2	3	2	5	3	2	1	5	3	0	0	rs200137658		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:129559152C>T	ENST00000422113.2	-	9	2894	c.2568G>A	c.(2566-2568)acG>acA	p.T856T	TMEM132D_ENST00000389441.4_Silent_p.T394T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	856					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.T856T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCTGTCTGTCGTGGTGCCCC	0.552													C|||	1	0.000199681	0	0.0014	5008	,	,		19313	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	lung(1)						C		0,4406		0,0,2203	97	96	96		2568	-8.4	0	12		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM132D	NM_133448.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		856/1100	129559152	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2568G>A	12.37:g.129559152C>T			Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	NULL	p.T856	ENST00000422113.2	37	c.2568	CCDS9266.1	12																																																																																			TMEM132D	-	NULL	ENSG00000151952		0.552	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1		0	45	0	C	NM_133448		129559152	-1			no_errors	ENST00000422113	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.002	T	T	129559152	C	T	129559152	2	4	166	1	0	0	0	0	0	0	0	1	16094	871	31	1		1	TMEM132D	12	129559152	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	6372036	129559152	4292743	159	41927											
SACS	26278	genome.wustl.edu	37	chr13	23911207	23911207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgacactgaaccacaacCtctaaaagaatgggaatttt	17	9	6	9	0	1	3	0	2	1	1	1	4	1	4	2	1	2	0	2	1	7	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr13:23911207C>T	ENST00000382292.3	-	9	7081	c.6808G>A	c.(6808-6810)Ggt>Agt	p.G2270S	SACS_ENST00000402364.1_Missense_Mutation_p.G1520S|SACS_ENST00000382298.3_Missense_Mutation_p.G2270S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2270					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)		GAACCACAACCTCTAAAAGAA	0.353																																																	0													49	51	50					13																	23911207		2203	4298	6501	SO:0001583	missense	0			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.6808G>A	13.37:g.23911207C>T	ENSP00000371729:p.Gly2270Ser		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.G2270S	ENST00000382292.3	37	c.6808	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540692	0.65085	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89617	-2.4;-2.54;-2.4	5.93	5.93	0.95920	.	0.053488	0.85682	N	0.000000	D	0.92951	0.7757	L	0.59436	1.845	0.58432	D	0.99999	D	0.63880	0.993	P	0.59948	0.866	D	0.92807	0.6261	10	0.72032	D	0.01	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	2270	Q9NZJ4	SACS_HUMAN	S	2270;1520;2270	ENSP00000371729:G2270S;ENSP00000385844:G1520S;ENSP00000371735:G2270S	ENSP00000371729:G2270S	G	-	1	0	SACS	22809207	1.000000	0.71417	0.979000	0.43373	0.291000	0.27294	7.487000	0.81328	2.808000	0.96608	0.655000	0.94253	GGT	SACS	-	NULL	ENSG00000151835		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	107	0	C	NM_014363		23911207	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	T	T	23911207	C	T	23911207	3	4	166	1	0	0	0	0	1	0	0	0	13849	681	24	3	6935	3	SACS	13	23911207	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09		23911207	91258671	160	41928											
PARP4	143	genome.wustl.edu	37	chr13	25016086	25016086	+	Silent	SNP	A	A	G	1	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	gaaacttttggaatatcaggAaaaggcgactcattctcatc	14	11	8	8	1	3	0	3	0	1	0	5	4	3	2	0	3	1	0	0	3	5	4	rs113538547		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr13:25016086A>G	ENST00000381989.3	-	30	3669	c.3564T>C	c.(3562-3564)ttT>ttC	p.F1188F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1188					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.F1188F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAATATCAGGAAAAGGCGACT	0.413																																																	1	Substitution - coding silent(1)	prostate(1)											42	45	44					13																	25016086		2203	4300	6503	SO:0001819	synonymous_variant	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3564T>C	13.37:g.25016086A>G			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.F1188	ENST00000381989.3	37	c.3564	CCDS9307.1	13																																																																																			PARP4	-	NULL	ENSG00000102699		0.413	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1		0	23	0	A	NM_006437		25016086	-1			no_errors	ENST00000381989	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.000	G	G	25016086	A	G	25016086	2	3	166	1	0	0	0	0	0	0	0	1	11502	243	9	4		4	PARP4	13	25016086	Silent	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	1104879	25016086	90153792	161	41929											
MRPS31	10240	genome.wustl.edu	37	chr13	41333214	41333214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccacagcagatgcagctgCcaccaactcaggactcaggg	11	5	11	14	0	2	1	2	0	0	1	2	2	2	2	3	2	6	3	3	2	1	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr13:41333214C>T	ENST00000323563.6	-	3	505	c.469G>A	c.(469-471)Gca>Aca	p.A157T		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	157						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)		GATGCAGCTGCCACCAACTCA	0.483																																																	0													45	45	45					13																	41333214		2203	4300	6503	SO:0001583	missense	0			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.469G>A	13.37:g.41333214C>T	ENSP00000315397:p.Ala157Thr		B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	NULL	p.A157T	ENST00000323563.6	37	c.469	CCDS9372.1	13	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173034	0.57584	.	.	ENSG00000102738	ENST00000323563	T	0.32023	1.47	4.88	4.0	0.46444	.	0.156720	0.56097	D	0.000031	T	0.45478	0.1344	L	0.54323	1.7	0.38184	D	0.939715	D	0.89917	1.0	D	0.77004	0.989	T	0.40440	-0.9563	10	0.23891	T	0.37	.	10.4316	0.44411	0.1955:0.8045:0.0:0.0	.	157	Q92665	RT31_HUMAN	T	157	ENSP00000315397:A157T	ENSP00000315397:A157T	A	-	1	0	MRPS31	40231214	1.000000	0.71417	0.899000	0.35326	0.621000	0.37620	1.508000	0.35769	1.087000	0.41251	0.557000	0.71058	GCA	MRPS31	-	NULL	ENSG00000102738		0.483	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS31	HGNC	protein_coding	OTTHUMT00000044640.2		0	13	0	C			41333214	-1			no_errors	ENST00000323563	ensembl	human	known	74_37	missense	22.22	7	2	SNP	0.999	T	T	41333214	C	T	41333214	3	4	166	1	0	0	0	0	1	0	0	0	9879	739	26	3	738	3	MRPS31	13	41333214	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	16317128	41333214	73836664	162	41930											
FAM124A	220108	genome.wustl.edu	37	chr13	51825970	51825970	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcttcacgctggcccctgGgacgccgctttgggccatcc	3	10	11	17	3	2	0	1	0	1	0	3	1	3	1	5	3	0	2	5	3	0	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr13:51825970G>C	ENST00000322475.8	+	3	602	c.467G>C	c.(466-468)gGg>gCg	p.G156A	FAM124A_ENST00000280057.6_Missense_Mutation_p.G192A	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	156										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)		CTGGCCCCTGGGACGCCGCTT	0.657																																																	0													16	16	16					13																	51825970		2202	4300	6502	SO:0001583	missense	0			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.467G>C	13.37:g.51825970G>C	ENSP00000324625:p.Gly156Ala		A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	NULL	p.G192A	ENST00000322475.8	37	c.575	CCDS55900.1	13	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736406	0.69189	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.42513	0.97;0.97	5.79	5.79	0.91817	.	0.051691	0.85682	D	0.000000	T	0.60894	0.2304	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.971	D;D;P	0.78314	0.965;0.991;0.721	T	0.60566	-0.7238	10	0.51188	T	0.08	-2.2876	12.2665	0.54681	0.0852:0.0:0.9148:0.0	.	156;192;156	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	A	156;192	ENSP00000324625:G156A;ENSP00000280057:G192A	ENSP00000280057:G192A	G	+	2	0	FAM124A	50723971	1.000000	0.71417	0.998000	0.56505	0.672000	0.39443	7.605000	0.82844	2.735000	0.93741	0.655000	0.94253	GGG	FAM124A	-	NULL	ENSG00000150510		0.657	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3	-	0	55	0	G	NM_145019		51825970	1	tier1	-	no_errors	ENST00000280057	ensembl	human	known	74_37	missense	45.45	6	5	SNP	1.000	C	C	51825970	G	C	51825970	3	2	166	1	0	0	0	0	1	0	0	0	5444	1232	43	5	589	5	FAM124A	13	51825970	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	10492756	51825970	63343908	163	41931											
UTP14C	9724	genome.wustl.edu	37	chr13	52603541	52603541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaagcagccagtgacagatCctttactgactcccatggaa	13	8	8	12	0	0	3	0	2	0	1	2	4	2	4	3	1	3	1	3	1	3	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr13:52603541C>T	ENST00000521776.2	+	2	1334	c.601C>T	c.(601-603)Cct>Tct	p.P201S	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	201					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)		AGTGACAGATCCTTTACTGAC	0.537																																																	0													83	85	84					13																	52603541		2203	4300	6503	SO:0001583	missense	0			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.601C>T	13.37:g.52603541C>T	ENSP00000428619:p.Pro201Ser		Q5FWG3|Q92555	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.P201S	ENST00000521776.2	37	c.601	CCDS31978.1	13	.	.	.	.	.	.	.	.	.	.	C	16.02	3.002915	0.54254	.	.	ENSG00000253797	ENST00000521776	T	0.16597	2.33	2.24	1.35	0.21983	.	0.048483	0.85682	D	0.000000	T	0.35128	0.0921	M	0.79475	2.455	0.53688	D	0.999976	D	0.76494	0.999	D	0.73708	0.981	T	0.14615	-1.0466	10	0.72032	D	0.01	-7.0617	6.5211	0.22275	0.0:0.8271:0.0:0.1729	.	201	Q5TAP6	UT14C_HUMAN	S	201	ENSP00000428619:P201S	ENSP00000428619:P201S	P	+	1	0	UTP14C	51501542	0.995000	0.38212	0.998000	0.56505	0.945000	0.59286	2.424000	0.44714	1.269000	0.44280	0.448000	0.29417	CCT	UTP14C	-	pfam_SSU_processome_Utp14	ENSG00000253797		0.537	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	HGNC	protein_coding	OTTHUMT00000045049.2	-	0	60	0	C	NM_021645		52603541	1	tier1	-	no_errors	ENST00000521776	ensembl	human	known	74_37	missense	44.44	10	8	SNP	1.000	T	T	52603541	C	T	52603541	3	4	166	1	0	0	0	0	1	0	0	0	17145	855	30	3	603	3	UTP14C	13	52603541	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	777571	52603541	62566337	164	41932											
TOX4	9878	genome.wustl.edu	37	chr14	21961063	21961063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcaggcagcagcagctGctgctgctgctgcttctatg	5	12	13	11	0	1	0	0	0	1	0	1	0	1	0	0	1	9	11	0	1	1	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr14:21961063G>A	ENST00000405508.1	+	8	1564	c.1288G>A	c.(1288-1290)Gct>Act	p.A430T	TOX4_ENST00000448790.2_Missense_Mutation_p.A407T|TOX4_ENST00000262709.3_Missense_Mutation_p.A430T			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	430	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGCAGCAGCTGCTGCTGCTGC	0.577																																																	0													64	74	70					14																	21961063		2201	4297	6498	SO:0001583	missense	0			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1288G>A	14.37:g.21961063G>A	ENSP00000385102:p.Ala430Thr		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A430T	ENST00000405508.1	37	c.1288	CCDS32043.1	14	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459512	0.43736	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.11712	2.75;2.75;2.76	0.916	0.916	0.19373	.	0.421374	0.25009	N	0.033859	T	0.08313	0.0207	N	0.08118	0	0.22531	N	0.999016	P;D	0.57571	0.805;0.98	P;P	0.57009	0.483;0.811	T	0.23190	-1.0195	10	0.32370	T	0.25	.	4.9698	0.14110	0.0:0.0:1.0:0.0	.	407;430	B4DPY8;O94842	.;TOX4_HUMAN	T	430;430;407;358	ENSP00000385102:A430T;ENSP00000262709:A430T;ENSP00000393080:A407T	ENSP00000262709:A430T	A	+	1	0	TOX4	21030903	0.615000	0.27026	0.948000	0.38648	0.952000	0.60782	1.556000	0.36288	0.300000	0.22699	0.305000	0.20034	GCT	TOX4	-	NULL	ENSG00000092203		0.577	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX4	HGNC	protein_coding	OTTHUMT00000317287.2	-	0	50	0	G	NM_014828		21961063	1	tier1	-	no_errors	ENST00000262709	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.968	A	A	21961063	G	A	21961063	3	1	166	1	0	0	0	0	1	0	0	0	16428	1319	46	3	1314	3	TOX4	14	21961063	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09		21961063	85388477	165	41933											
HOMEZ	57594	genome.wustl.edu	37	chr14	23745776	23745776	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gccactgctttgaagatgttGccaaaaatctgattggtagg	11	12	11	7	0	1	3	0	2	1	1	1	3	1	3	2	2	2	3	2	2	4	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr14:23745776G>T	ENST00000357460.5	-	2	825	c.661C>A	c.(661-663)Caa>Aaa	p.Q221K	HOMEZ_ENST00000561013.1_Missense_Mutation_p.Q223K|HOMEZ_ENST00000431326.2_Missense_Mutation_p.Q223K	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	221					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)		TGAAGATGTTGCCAAAAATCT	0.537																																																	0													76	77	76					14																	23745776		2022	4166	6188	SO:0001583	missense	0			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.661C>A	14.37:g.23745776G>T	ENSP00000350049:p.Gln221Lys		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.Q223K	ENST00000357460.5	37	c.667	CCDS45085.1	14	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094769	0.56075	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.25749	1.78;1.78	6.17	6.17	0.99709	.	0.134014	0.53938	D	0.000058	T	0.37839	0.1018	L	0.32530	0.975	0.33058	D	0.533741	D;B	0.58268	0.982;0.172	D;B	0.70227	0.968;0.079	T	0.15809	-1.0424	10	0.13853	T	0.58	-17.1706	16.3795	0.83443	0.0:0.0:1.0:0.0	.	223;221	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	K	221;223	ENSP00000350049:Q221K;ENSP00000406579:Q223K	ENSP00000350049:Q221K	Q	-	1	0	HOMEZ	22815616	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.934000	0.56553	2.941000	0.99782	0.655000	0.94253	CAA	HOMEZ	-	NULL	ENSG00000215271		0.537	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HOMEZ	HGNC	protein_coding	OTTHUMT00000416939.2		0	36	0	G	NM_020834		23745776	-1			no_errors	ENST00000431326	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T	T	23745776	G	T	23745776	3	4	166	1	0	0	0	0	1	0	0	0	7308	1328	46	3	995	3	HOMEZ	14	23745776	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	1784713	23745776	83603764	166	41934											
C14orf28	122525	genome.wustl.edu	37	chr14	45374625	45374625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaacatcattattctgcaGctttccagattggtggacat	11	13	9	8	0	2	1	1	0	1	1	3	3	3	3	1	3	3	2	1	3	2	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr14:45374625G>T	ENST00000325192.3	+	5	1080	c.805G>T	c.(805-807)Gct>Tct	p.A269S	C14orf28_ENST00000557112.1_Missense_Mutation_p.A239S|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	269										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TTATTCTGCAGCTTTCCAGAT	0.333																																																	0													122	132	128					14																	45374625		2203	4300	6503	SO:0001583	missense	0			AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"dopamine receptor interacting protein 1"						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.805G>T	14.37:g.45374625G>T	ENSP00000326846:p.Ala269Ser			Missense_Mutation	SNP	NULL	p.A269S	ENST00000325192.3	37	c.805	CCDS32069.1	14	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272001	0.59649	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.35048	1.33;1.33	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	N	0.14661	0.345	0.58432	D	0.99999	P	0.48694	0.914	B	0.39419	0.299	T	0.11275	-1.0594	10	0.62326	D	0.03	.	16.1097	0.81250	0.0:0.0:1.0:0.0	.	269	Q4W4Y0	CN028_HUMAN	S	269;239	ENSP00000326846:A269S;ENSP00000451791:A239S	ENSP00000326846:A269S	A	+	1	0	C14orf28	44444375	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.959000	0.87885	2.473000	0.83533	0.455000	0.32223	GCT	C14orf28	-	NULL	ENSG00000179476		0.333	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	C14orf28	HGNC	protein_coding	OTTHUMT00000410086.1	-	0	126	0	G	NM_001017923		45374625	1	tier1	-	no_errors	ENST00000325192	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	T	T	45374625	G	T	45374625	3	4	166	1	0	0	0	0	1	0	0	0	1775	971	34	3	819	3	C14orf28	14	45374625	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	21628849	45374625	61974915	167	41935											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102482791	102482791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatcacgaccgtgcctctgCccactgcgcccaacataccc	9	6	7	19	3	2	0	1	0	1	0	2	2	2	0	5	0	5	0	5	0	3	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr14:102482791C>T	ENST00000360184.4	+	37	7743	c.7579C>T	c.(7579-7581)Ccc>Tcc	p.P2527S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2527					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						CGTGCCTCTGCCCACTGCGCC	0.498																																																	0													98	91	93					14																	102482791		2203	4300	6503	SO:0001583	missense	0			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.7579C>T	14.37:g.102482791C>T	ENSP00000348965:p.Pro2527Ser		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.P2527S	ENST00000360184.4	37	c.7579	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022079	0.93462	.	.	ENSG00000197102	ENST00000360184	T	0.58797	0.31	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	M	0.79258	2.445	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.79072	-0.1953	10	0.66056	D	0.02	.	19.4924	0.95056	0.0:1.0:0.0:0.0	.	2527	Q14204	DYHC1_HUMAN	S	2527	ENSP00000348965:P2527S	ENSP00000348965:P2527S	P	+	1	0	DYNC1H1	101552544	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	7.308000	0.78929	2.692000	0.91855	0.561000	0.74099	CCC	DYNC1H1	-	NULL	ENSG00000197102		0.498	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1		0	48	0	C	NM_001376		102482791	1			no_errors	ENST00000360184	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	102482791	C	T	102482791	3	4	166	1	0	0	0	0	1	0	0	0	4855	739	26	3	7725	3	DYNC1H1	14	102482791	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	57108166	102482791	4866749	168	41936											
FRMD5	84978	genome.wustl.edu	37	chr15	44166455	44166455	+	Frame_Shift_Del	DEL	C	C	-																															caggtggctccattgatctgCcgggaaagcaacatcagctc																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:44166455delC	ENST00000417257.1	-	14	1517	c.1341delG	c.(1339-1341)cggfs	p.R447fs	FRMD5_ENST00000402883.1_Frame_Shift_Del_p.R447fs|FRMD5_ENST00000484674.1_Frame_Shift_Del_p.R353fs	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	447						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CATTGATCTGCCGGGAAAGCA	0.607																																																	0													61	57	58					15																	44166455		2198	4298	6496	SO:0001589	frameshift_variant	0			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1341delG	15.37:g.44166455delC	ENSP00000403067:p.Arg447fs		Q8NBG4	Frame_Shift_Del	DEL	pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.Q448fs	ENST00000417257.1	37	c.1341	CCDS10107.2	15																																																																																			FRMD5	-	NULL	ENSG00000171877		0.607	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	HGNC	protein_coding	OTTHUMT00000133879.1		0	43	0	C	NM_032892		44166455	-1	tier1		no_errors	ENST00000417257	ensembl	human	known	74_37	frame_shift_del	13.33	13	2	DEL	1.000	-	-	44166455	C	-	44166455	7	5	166	1	0	1	0	1	0	0	0	0	6077	726	26	0	375	0	FRMD5	15	44166455	Frame_Shift_Del	DEL	C	TCGA-VR-A8EU-01A-11D-A36J-09		44166455	58364937	169	41937											
FBN1	2200	genome.wustl.edu	37	chr15	48704821	48704821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccgtttcctgccccgtttgGggtagccattgatcttacac	5	14	9	13	2	1	1	0	1	1	0	3	1	3	1	5	2	3	3	5	2	2	5	rs398122832		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:48704821G>A	ENST00000316623.5	-	65	8626	c.8171C>T	c.(8170-8172)cCc>cTc	p.P2724L	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2724					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)		GCCCCGTTTGGGGTAGCCATT	0.517																																																	0													225	185	199					15																	48704821		2198	4296	6494	SO:0001583	missense	0			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.8171C>T	15.37:g.48704821G>A	ENSP00000325527:p.Pro2724Leu		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.P2724L	ENST00000316623.5	37	c.8171	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450231	0.63290	.	.	ENSG00000166147	ENST00000316623	T	0.81163	-1.46	5.38	4.47	0.54385	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	M	0.71036	2.16	0.80722	D	1	B	0.14012	0.009	B	0.12156	0.007	T	0.71724	-0.4506	10	0.12103	T	0.63	.	13.9772	0.64279	0.073:0.0:0.927:0.0	.	2724	P35555	FBN1_HUMAN	L	2724	ENSP00000325527:P2724L	ENSP00000325527:P2724L	P	-	2	0	FBN1	46492113	1.000000	0.71417	0.993000	0.49108	0.961000	0.63080	7.539000	0.82063	1.503000	0.48686	0.655000	0.94253	CCC	FBN1	-	superfamily_Growth_fac_rcpt_N_dom,pirsf_FBN	ENSG00000166147		0.517	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	65	0	G			48704821	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	A	A	48704821	G	A	48704821	3	1	166	1	0	0	0	0	1	0	0	0	5724	1232	43	3	452	3	FBN1	15	48704821	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	4538366	48704821	53826571	170	41938											
FGF7	2252	genome.wustl.edu	37	chr15	49716708	49716708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagtgagaagactcttctgtCgaacacagtggtacctgagg	11	9	13	8	1	2	3	0	2	2	2	3	6	2	3	1	2	2	1	1	2	3	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:49716708C>G	ENST00000267843.4	+	2	825	c.214C>G	c.(214-216)Cga>Gga	p.R72G	FGF7_ENST00000560270.1_Missense_Mutation_p.R72G|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	72					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)		ACTCTTCTGTCGAACACAGTG	0.408																																																	0													91	90	91					15																	49716708		2196	4295	6491	SO:0001583	missense	0			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.214C>G	15.37:g.49716708C>G	ENSP00000267843:p.Arg72Gly		H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R72G	ENST00000267843.4	37	c.214	CCDS10131.1	15	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567625	0.28003	.	.	ENSG00000140285	ENST00000267843	D	0.83250	-1.7	5.7	3.68	0.42216	.	0.127454	0.56097	D	0.000039	T	0.74688	0.3749	.	.	.	0.45439	D	0.998412	B	0.19331	0.035	B	0.14023	0.01	T	0.70817	-0.4769	9	0.40728	T	0.16	.	10.8202	0.46599	0.2609:0.6128:0.1262:0.0	.	72	P21781	FGF7_HUMAN	G	72	ENSP00000267843:R72G	ENSP00000267843:R72G	R	+	1	2	FGF7	47504000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.570000	0.36439	1.386000	0.46466	0.655000	0.94253	CGA	FGF7	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam	ENSG00000140285		0.408	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF7	HGNC	protein_coding	OTTHUMT00000254374.3		0	52	0	C	NM_002009		49716708	1			no_errors	ENST00000267843	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	G	G	49716708	C	G	49716708	3	3	166	1	0	0	0	0	1	0	0	0	5879	876	31	5	216	5	FGF7	15	49716708	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	1011887	49716708	52814684	171	41939											
DTWD1	56986	genome.wustl.edu	37	chr15	49926911	49926911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatgacagcaagtgcaaagGcacaacactgaaaaaaatta	21	5	8	7	0	0	2	0	2	0	0	0	3	0	2	0	1	3	3	0	1	8	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:49926911G>A	ENST00000251250.6	+	5	794	c.587G>A	c.(586-588)gGc>gAc	p.G196D	DTWD1_ENST00000403028.3_Missense_Mutation_p.G196D|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000558653.1_Missense_Mutation_p.G196D|DTWD1_ENST00000415425.1_Missense_Mutation_p.G109D	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	196										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)		AAGTGCAAAGGCACAACACTG	0.333																																																	0													56	64	61					15																	49926911		2193	4295	6488	SO:0001583	missense	0			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.587G>A	15.37:g.49926911G>A	ENSP00000251250:p.Gly196Asp		Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	pfam_DTW	p.G196D	ENST00000251250.6	37	c.587	CCDS10132.1	15	.	.	.	.	.	.	.	.	.	.	G	6.058	0.379036	0.11466	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.22336	1.96;1.96	4.81	-0.963	0.10330	DTW (1);	0.874076	0.10219	N	0.701097	T	0.11281	0.0275	N	0.21583	0.68	0.22280	N	0.999236	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.36480	-0.9746	9	.	.	.	0.0	5.5048	0.16848	0.4242:0.0:0.4497:0.1262	.	109;196	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	D	196;196;109	ENSP00000385399:G196D;ENSP00000251250:G196D	.	G	+	2	0	DTWD1	47714203	0.003000	0.15002	0.004000	0.12327	0.738000	0.42128	0.196000	0.17176	-0.125000	0.11703	0.655000	0.94253	GGC	DTWD1	-	pfam_DTW	ENSG00000104047		0.333	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD1	HGNC	protein_coding	OTTHUMT00000254431.2		0	74	0	G	NM_020234		49926911	1			no_errors	ENST00000251250	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.011	A	A	49926911	G	A	49926911	3	1	166	1	0	0	0	0	1	0	0	0	4805	1203	42	3	597	3	DTWD1	15	49926911	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	210203	49926911	52604481	172	41940											
BBS4	585	genome.wustl.edu	37	chr15	72987563	72987563	+	Frame_Shift_Del	DEL	A	A	-																															agtctcaaaaaccccggcagAaaaaaggtctgtatgcagtt																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:72987563delA	ENST00000268057.4	+	2	111	c.70delA	c.(70-72)aaafs	p.K25fs	BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_Intron|BBS4_ENST00000395205.2_Frame_Shift_Del_p.K33fs	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	25	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACCCCGGCAGAAAAAAGGTCT	0.333									Bardet-Biedl syndrome																																								0													63	68	66					15																	72987563		2198	4296	6494	SO:0001589	frameshift_variant	0	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.70delA	15.37:g.72987563delA	ENSP00000268057:p.Lys25fs		B4E178|Q53DZ5|Q8NHU9|Q96H45	Frame_Shift_Del	DEL	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A34fs	ENST00000268057.4	37	c.94	CCDS10246.1	15																																																																																			BBS4	-	NULL	ENSG00000140463		0.333	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS4	HGNC	protein_coding	OTTHUMT00000257473.2		0	89	0	A	NM_033028		72987563	1	tier1		no_errors	ENST00000395205	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	0.850	-	-	72987563	A	-	72987563	7	5	166	1	0	1	0	1	0	0	0	0	1340	247	9	0	76	0	BBS4	15	72987563	Frame_Shift_Del	DEL	A	TCGA-VR-A8EU-01A-11D-A36J-09	23060652	72987563	29543829	173	41941											
ZFAND6	54469	genome.wustl.edu	37	chr15	80412728	80412728	+	Frame_Shift_Del	DEL	T	T	-																															agccaagtgcctatgctttgTtccactggctgtggatttta																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:80412728delT	ENST00000261749.6	+	3	464	c.42delT	c.(40-42)tgtfs	p.C14fs	ZFAND6_ENST00000558494.1_Frame_Shift_Del_p.C14fs|ZFAND6_ENST00000558087.1_Frame_Shift_Del_p.C14fs|ZFAND6_ENST00000559775.1_Frame_Shift_Del_p.C14fs|ZFAND6_ENST00000561060.1_Frame_Shift_Del_p.C14fs|ZFAND6_ENST00000559157.1_Frame_Shift_Del_p.C14fs|ZFAND6_ENST00000559835.1_Frame_Shift_Del_p.C14fs|ZFAND6_ENST00000558688.1_Frame_Shift_Del_p.C14fs	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	14					apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CTATGCTTTGTTCCACTGGCT	0.388																																																	0													118	108	111					15																	80412728		2203	4300	6503	SO:0001589	frameshift_variant	0			BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"Zinc fingers, AN1-type domain containing"	30164	protein-coding gene	gene with protein product	"protein associated with PRK1"	610183	"zinc finger, A20 domain containing 3"	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.42delT	15.37:g.80412728delT	ENSP00000261749:p.Cys14fs		D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Frame_Shift_Del	DEL	pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1	p.S15fs	ENST00000261749.6	37	c.42	CCDS10313.1	15																																																																																			ZFAND6	-	pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20	ENSG00000086666		0.388	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND6	HGNC	protein_coding	OTTHUMT00000291368.1		0	53	0	T	NM_019006		80412728	1	tier1		no_errors	ENST00000261749	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	1.000	-	-	80412728	T	-	80412728	7	5	166	1	0	1	0	1	0	0	0	0	17679	1731	60	0	44	0	ZFAND6	15	80412728	Frame_Shift_Del	DEL	T	TCGA-VR-A8EU-01A-11D-A36J-09	7425165	80412728	22118664	174	41942											
IDH2	3418	genome.wustl.edu	37	chr15	90628068	90628069	+	Missense_Mutation	DNP	GC	GC	AA																															ttgctgaggccgtgaatgcaGcccgccaggtccttggtcat																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:90628068_90628069GC>AA	ENST00000330062.3	-	10	1363_1364	c.1250_1251GC>TT	c.(1249-1251)gGC>gTT	p.G417V	IDH2_ENST00000539790.1_Missense_Mutation_p.G287V|RP11-617F23.1_ENST00000558334.1_RNA|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.G365V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	417					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGTGAATGCAGCCCGCCAGGTC	0.634			M		GBM																																			Dom	yes		15	15q26.1	3418	"socitrate dehydrogenase 2 (NADP+), mitochondrial "		M	0																																										SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.1250_1251delinsAA	15.37:g.90628068_90628069delinsAA	ENSP00000331897:p.Gly417Val		B2R6L6|B4DFL2|Q96GT3	Silent|Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	p.G417|p.G417V	ENST00000330062.3	37	c.1251|c.1250	CCDS10359.1	15																																																																																			IDH2	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	ENSG00000182054		0.634	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	HGNC	protein_coding	OTTHUMT00000313426.1	-	0	59|62	0	G|C			90628068|90628069	-1	tier1	-	no_errors	ENST00000330062	ensembl	human	known	74_37	silent|missense	20.51	31	8	SNP	0.996|1.000	A	AA	90628069	GC	AA	90628068	3	1	166	1	0	0	0	0	1	0	0	0	7522	958	34	3	115	3	IDH2	15	90628068	Missense_Mutation	DNP	GC	TCGA-VR-A8EU-01A-11D-A36J-09	10215340	90628068	11903324	175	41943											
PPL	5493	genome.wustl.edu	37	chr16	4938128	4938128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcactttggtggcaggaGattggagcctggctctcttg	5	13	13	10	0	2	1	1	0	1	1	3	3	2	2	2	5	1	2	2	5	0	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:4938128G>C	ENST00000345988.2	-	20	2578	c.2489C>G	c.(2488-2490)tCt>tGt	p.S830C	PPL_ENST00000590782.2_Missense_Mutation_p.S828C	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	830					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						GGTGGCAGGAGATTGGAGCCT	0.562																																																	0													136	115	122					16																	4938128		2197	4300	6497	SO:0001583	missense	0			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.2489C>G	16.37:g.4938128G>C	ENSP00000340510:p.Ser830Cys		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.S830C	ENST00000345988.2	37	c.2489	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308740	0.81247	.	.	ENSG00000118898	ENST00000345988	T	0.58940	0.3	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.72118	2.19	0.58432	D	0.999999	D	0.58620	0.983	P	0.54499	0.754	T	0.74680	-0.3584	10	0.66056	D	0.02	.	19.0094	0.92867	0.0:0.0:1.0:0.0	.	830	O60437	PEPL_HUMAN	C	830	ENSP00000340510:S830C	ENSP00000340510:S830C	S	-	2	0	PPL	4878129	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	7.568000	0.82369	2.502000	0.84385	0.561000	0.74099	TCT	PPL	-	smart_Spectrin/alpha-actinin	ENSG00000118898		0.562	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	-	0	55	0	G	NM_002705		4938128	-1	tier1	-	no_errors	ENST00000345988	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	C	C	4938128	G	C	4938128	3	2	166	1	0	0	0	0	1	0	0	0	12376	942	33	5	2793	5	PPL	16	4938128	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09		4938128	85416625	176	41944											
SMG1	23049	genome.wustl.edu	37	chr16	18865097	18865097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccatttagccagtgtcaGaattgatttagcaactgcat	12	13	8	8	0	1	2	1	1	0	1	2	3	2	2	2	0	4	2	2	0	4	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:18865097G>T	ENST00000446231.2	-	31	4988	c.4576C>A	c.(4576-4578)Ctg>Atg	p.L1526M	SMG1_ENST00000389467.3_Missense_Mutation_p.L1526M			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1526	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GCCAGTGTCAGAATTGATTTA	0.428																																																	0													100	88	92					16																	18865097		1885	4121	6006	SO:0001583	missense	0			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.4576C>A	16.37:g.18865097G>T	ENSP00000402515:p.Leu1526Met		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L1526M	ENST00000446231.2	37	c.4576	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925752	0.73213	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.02140	4.44;4.43	5.24	2.25	0.28309	PIK-related kinase (1);Armadillo-type fold (1);	0.000000	0.45126	D	0.000395	T	0.08537	0.0212	L	0.57536	1.79	0.33386	D	0.57549	D	0.71674	0.998	D	0.77557	0.99	T	0.03630	-1.1018	10	0.87932	D	0	.	10.8119	0.46551	0.2061:0.0:0.7939:0.0	.	1526	Q96Q15	SMG1_HUMAN	M	1526	ENSP00000402515:L1526M;ENSP00000374118:L1526M	ENSP00000374118:L1526M	L	-	1	2	SMG1	18772598	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.689000	0.61723	0.331000	0.23511	-0.215000	0.12644	CTG	SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000157106		0.428	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	-	0	51	0	G	NM_015092		18865097	-1	tier1	-	no_errors	ENST00000389467	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T	T	18865097	G	T	18865097	3	4	166	1	0	0	0	0	1	0	0	0	14840	933	33	3	6541	3	SMG1	16	18865097	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	13926969	18865097	71489656	177	41945											
CP110	9738	genome.wustl.edu	37	chr16	19547383	19547383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatagctttccaagccataCggaacactctactgcagcaa	15	8	6	12	1	1	0	0	0	1	0	2	1	2	1	2	1	7	3	2	1	7	4	rs372440972		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:19547383C>T	ENST00000381396.5	+	4	639	c.392C>T	c.(391-393)aCg>aTg	p.T131M	CCP110_ENST00000396212.2_Missense_Mutation_p.T131M|CCP110_ENST00000396208.2_Missense_Mutation_p.T131M	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	131	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CCAAGCCATACGGAACACTCT	0.388																																																	0													74	74	74					16																	19547383		2197	4300	6497	SO:0001583	missense	0			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.392C>T	16.37:g.19547383C>T	ENSP00000370803:p.Thr131Met		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	NULL	p.T131M	ENST00000381396.5	37	c.392	CCDS55992.1	16	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251206	0.39797	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.16743	2.32;2.32;2.32	6.07	5.0	0.66597	.	0.621190	0.16815	N	0.198420	T	0.25306	0.0615	L	0.53249	1.67	0.19575	N	0.999967	D;D	0.56287	0.975;0.975	P;P	0.48425	0.577;0.577	T	0.07751	-1.0756	10	0.62326	D	0.03	-9.8038	13.0047	0.58696	0.0:0.9067:0.0:0.0933	.	131;131	O43303;O43303-2	CP110_HUMAN;.	M	131	ENSP00000379515:T131M;ENSP00000370803:T131M;ENSP00000379511:T131M	ENSP00000370803:T131M	T	+	2	0	CCP110	19454884	0.001000	0.12720	0.363000	0.25875	0.338000	0.28826	1.094000	0.30951	1.320000	0.45209	0.655000	0.94253	ACG	CCP110	-	NULL	ENSG00000103540		0.388	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2	-	0	102	0	C	NM_014711		19547383	1	tier1	-	no_errors	ENST00000381396	ensembl	human	known	74_37	missense	18.75	38	9	SNP	0.407	T	T	19547383	C	T	19547383	3	4	166	1	0	0	0	0	1	0	0	0	3795	536	19	1	402	1	CP110	16	19547383	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	682286	19547383	70807370	178	41946											
ZNF668	79759	genome.wustl.edu	37	chr16	31073108	31073108	+	Nonsense_Mutation	SNP	T	T	A																															cgagtgcacccggctatgctTcgtgaggctggcacgctcgg																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:31073108T>A	ENST00000538906.1	-	3	1925	c.1141A>T	c.(1141-1143)Aag>Tag	p.K381*	ZNF668_ENST00000535577.1_Nonsense_Mutation_p.K381*|ZNF668_ENST00000539836.3_Nonsense_Mutation_p.K404*|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000417110.2_Missense_Mutation_p.F99Y|ZNF668_ENST00000426488.2_Nonsense_Mutation_p.K404*|ZNF668_ENST00000394983.2_Nonsense_Mutation_p.K381*|ZNF668_ENST00000300849.4_Nonsense_Mutation_p.K381*	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	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)|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						CGGCTATGCTTCGTGAGGCTG	0.667																																					Colon(181;1111 1980 5060 10512 25785)												0													81	85	84					16																	31073108		2197	4300	6497	SO:0001587	stop_gained	0				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.1141A>T	16.37:g.31073108T>A	ENSP00000440149:p.Lys381*		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K404*	ENST00000538906.1	37	c.1210	CCDS10701.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.010423|4.010423	0.75046|0.75046	.|.	.|.	ENSG00000232748|ENSG00000167394	ENST00000417110|ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.41419|.	0.1158|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31752|.	-0.9932|.	5|.	0.87932|0.02654	D|T	0|1	-27.3034|-27.3034	14.0053|14.0053	0.64459|0.64459	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	Y|X	99|404;381;381;381;381	.|.	ENSP00000391989:F99Y|ENSP00000300849:K381X	F|K	+|-	2|1	0|0	AC135050.1|ZNF668	30980609|30980609	0.188000|0.188000	0.23250|0.23250	0.923000|0.923000	0.36655|0.36655	0.034000|0.034000	0.12701|0.12701	1.616000|1.616000	0.36933|0.36933	2.133000|2.133000	0.65898|0.65898	0.455000|0.455000	0.32223|0.32223	TTC|AAG	ZNF668	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167394		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	-	0	64	0	T	NM_024706		31073108	-1	tier1	-	no_errors	ENST00000426488	ensembl	human	known	74_37	nonsense	30.77	27	12	SNP	1.000	A	A	31073108	T	A	31073108	4	1	166	1	0	0	0	0	0	1	0	0	18123	1792	62	5	722	5	ZNF668	16	31073108	Nonsense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	11525725	31073108	59281645	179	41947	147	2									
ZNF668	79759	genome.wustl.edu	37	chr16	31073109	31073109	+	Silent	SNP	C	C	A																															gagtgcacccggctatgcttCgtgaggctggcacgctcggc																								rs144972780	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:31073109C>A	ENST00000538906.1	-	3	1924	c.1140G>T	c.(1138-1140)acG>acT	p.T380T	ZNF668_ENST00000535577.1_Silent_p.T380T|ZNF668_ENST00000539836.3_Silent_p.T403T|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000417110.2_Missense_Mutation_p.F99L|ZNF668_ENST00000426488.2_Silent_p.T403T|ZNF668_ENST00000394983.2_Silent_p.T380T|ZNF668_ENST00000300849.4_Silent_p.T380T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T380T(2)|p.T403T(2)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTATGCTTCGTGAGGCTGG	0.672																																					Colon(181;1111 1980 5060 10512 25785)												4	Substitution - coding silent(4)	lung(4)											81	85	84					16																	31073109		2197	4300	6497	SO:0001819	synonymous_variant	0				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.1140G>T	16.37:g.31073109C>A			C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	NULL	p.F99L	ENST00000538906.1	37	c.297	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	C	6.950	0.545097	0.13312	.	.	ENSG00000232748	ENST00000417110	.	.	.	5.09	-8.92	0.00774	.	.	.	.	.	T	0.48205	0.1487	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59947	-0.7358	5	0.87932	D	0	-24.9467	1.3138	0.02103	0.37:0.2781:0.1834:0.1684	.	.	.	.	L	99	.	ENSP00000391989:F99L	F	+	3	2	AC135050.1	30980610	0.000000	0.05858	0.399000	0.26333	0.036000	0.12997	-1.940000	0.01543	-1.726000	0.01370	-0.259000	0.10710	TTC	ZNF668	-	NULL	ENSG00000232748		0.672	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232748	Uniprot_gn	protein_coding	OTTHUMT00000108516.2	-	0	63	0	C	NM_024706		31073109	1	tier1	-	no_errors	ENST00000417110	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.897	A	A	31073109	C	A	31073109	2	1	166	1	0	0	0	0	0	0	0	1	18123	871	31	2		2	ZNF668	16	31073109	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	1	31073109	59281644	180	41948	147	2									
LCAT	3931	genome.wustl.edu	37	chr16	67976482	67976482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcttgcggtagtactcctCctgctggcctgcagcgggtg	4	10	15	12	2	0	0	0	0	0	0	2	1	2	0	3	3	6	5	3	3	2	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:67976482C>T	ENST00000264005.5	-	5	561	c.532G>A	c.(532-534)Gag>Aag	p.E178K	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	178					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)		TAGTACTCCTCCTGCTGGCCT	0.652																																																	0													49	44	46					16																	67976482		2198	4299	6497	SO:0001583	missense	0				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.532G>A	16.37:g.67976482C>T	ENSP00000264005:p.Glu178Lys		Q53XQ3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.E178K	ENST00000264005.5	37	c.532	CCDS10854.1	16	.	.	.	.	.	.	.	.	.	.	C	9.809	1.182580	0.21870	.	.	ENSG00000213398	ENST00000264005	D	0.95885	-3.84	5.61	3.55	0.40652	.	0.467542	0.21183	U	0.078787	D	0.88529	0.6461	L	0.28400	0.85	0.24012	N	0.996178	B	0.02656	0.0	B	0.06405	0.002	T	0.73335	-0.4015	10	0.10111	T	0.7	-7.0144	5.4569	0.16596	0.0:0.6617:0.1654:0.1729	.	178	P04180	LCAT_HUMAN	K	178	ENSP00000264005:E178K	ENSP00000264005:E178K	E	-	1	0	LCAT	66533983	0.568000	0.26635	1.000000	0.80357	0.972000	0.66771	2.124000	0.42006	1.385000	0.46445	0.650000	0.86243	GAG	LCAT	-	pfam_LACT/PDAT_acylTrfase	ENSG00000213398		0.652	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	-	0	32	0	C			67976482	-1	tier1	-	no_errors	ENST00000264005	ensembl	human	known	74_37	missense	47.83	12	11	SNP	0.996	T	T	67976482	C	T	67976482	3	4	166	1	0	0	0	0	1	0	0	0	8686	864	30	3	798	3	LCAT	16	67976482	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	36903373	67976482	22378271	181	41949											
USP10	9100	genome.wustl.edu	37	chr16	84793868	84793868	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cctgacagttaacaagtcaaGcctgtctgaaaaggtttgag	13	10	10	8	0	2	3	1	3	1	0	2	3	2	3	2	1	2	2	2	1	5	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:84793868G>T	ENST00000219473.7	+	8	1654	c.1541G>T	c.(1540-1542)aGc>aTc	p.S514I	USP10_ENST00000570191.1_Missense_Mutation_p.S518I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	514	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						AACAAGTCAAGCCTGTCTGAA	0.428																																																	0													36	32	33					16																	84793868		1923	4113	6036	SO:0001583	missense	0			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.1541G>T	16.37:g.84793868G>T	ENSP00000219473:p.Ser514Ile		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67	p.S518I	ENST00000219473.7	37	c.1553	CCDS45537.1	16	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498350	0.85069	.	.	ENSG00000103194	ENST00000219473;ENST00000397953	T	0.32515	1.45	5.0	5.0	0.66597	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.081037	0.85682	D	0.000000	T	0.49729	0.1574	L	0.52573	1.65	0.80722	D	1	D;P	0.89917	1.0;0.548	D;B	0.66351	0.943;0.398	T	0.50725	-0.8794	10	0.72032	D	0.01	-24.0651	17.6579	0.88183	0.0:0.0:1.0:0.0	.	518;514	Q14694-3;Q14694	.;UBP10_HUMAN	I	514;76	ENSP00000219473:S514I	ENSP00000219473:S514I	S	+	2	0	USP10	83351369	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.222000	0.95196	2.480000	0.83734	0.561000	0.74099	AGC	USP10	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000103194		0.428	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	HGNC	protein_coding	OTTHUMT00000433660.1	-	0	93	0	G			84793868	1	tier1	-	no_errors	ENST00000570191	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	84793868	G	T	84793868	3	4	166	1	0	0	0	0	1	0	0	0	17090	971	34	3	1571	3	USP10	16	84793868	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	16817386	84793868	5560885	182	41950											
KIAA0182	23199	genome.wustl.edu	37	chr16	85687979	85687979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggaccagccatcccctcGcacctgctcagcacccccta	7	5	9	20	1	1	0	1	0	0	0	3	1	2	1	7	2	3	3	7	2	1	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:85687979G>A	ENST00000253458.7	+	4	698	c.522G>A	c.(520-522)tcG>tcA	p.S174S	GSE1_ENST00000405402.2_Silent_p.S70S|GSE1_ENST00000393243.1_Silent_p.S101S	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	174																	CCATCCCCTCGCACCTGCTCA	0.667																																																	0													47	46	46					16																	85687979		2193	4295	6488	SO:0001819	synonymous_variant	0			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.522G>A	16.37:g.85687979G>A			D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	pfam_GSE-like	p.S174	ENST00000253458.7	37	c.522	CCDS10952.1	16																																																																																			GSE1	-	pfam_GSE-like	ENSG00000131149		0.667	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSE1	HGNC	protein_coding	OTTHUMT00000325527.1	-	0	98	0	G	NM_014615		85687979	1	tier1	-	no_errors	ENST00000253458	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.998	A	A	85687979	G	A	85687979	2	1	166	1	0	0	0	0	0	0	0	1	8186	1074	38	1		1	KIAA0182	16	85687979	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	894111	85687979	4666774	183	41951											
RNMTL1	51031	genome.wustl.edu	37	chr17	685696	685696	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggcttgggaccttgacgcGaggcgctgggtccgggcgct	4	7	18	12	5	0	1	0	1	0	0	1	3	1	2	2	5	0	3	2	5	0	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:685696G>A	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Silent_p.A26A|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.A26A(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACCTTGACGCGAGGCGCTGGG	0.677																																																	1	Substitution - coding silent(1)	lung(1)											30	34	33					17																	685696		2203	4299	6502	SO:0001631	upstream_gene_variant	0			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			17.37:g.685696G>A	Exception_encountered		D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd	p.A26	ENST00000301328.5	37	c.78		17																																																																																			RNMTL1	-	NULL	ENSG00000171861		0.677	GLOD4-005	KNOWN	basic	protein_coding	RNMTL1	HGNC	protein_coding	OTTHUMT00000437190.1		0	65	0	G	NM_016080		685696	1			no_errors	ENST00000304478	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.220	A	A	685696	G	A	685696	1	1	166	0	1	0	0	0	0	0	0	0	13552	1045	37	1		1	RNMTL1	17	685696	5'Flank	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09		685696	80509514	184	41952											
INPP5K	51763	genome.wustl.edu	37	chr17	1412530	1412530	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctgcatctccaggatccGgtcaaagtgctccagccgct	8	10	9	14	2	3	0	1	0	2	0	6	1	5	1	4	2	3	3	4	2	1	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:1412530G>T	ENST00000421807.2	-	5	884	c.496C>A	c.(496-498)Cgg>Agg	p.R166R	INPP5K_ENST00000320345.6_Silent_p.R90R|INPP5K_ENST00000406424.4_Silent_p.R90R|INPP5K_ENST00000542125.1_Intron|INPP5K_ENST00000397335.3_Silent_p.R74R	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	166	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TCCAGGATCCGGTCAAAGTGC	0.562																																																	0													89	73	78					17																	1412530		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"skeletal muscle and kidney enriched inositol phosphatase"	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.496C>A	17.37:g.1412530G>T			B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.R166	ENST00000421807.2	37	c.496	CCDS11004.1	17																																																																																			INPP5K	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000132376		0.562	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5K	HGNC	protein_coding	OTTHUMT00000319381.4	-	0	104	0	G			1412530	-1	tier1	-	no_errors	ENST00000421807	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.999	T	T	1412530	G	T	1412530	2	4	166	1	0	0	0	0	0	0	0	1	7787	1115	39	2		2	INPP5K	17	1412530	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	726834	1412530	79782680	185	41953											
TP53	7157	genome.wustl.edu	37	chr17	7577515	7577517	+	In_Frame_Del	DEL	TGA	TGA	-																															tgacctggagtcttccagtgTgatgatggtgaggatgggcc																								rs587781433		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	TGA	TGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:7577515_7577517delTGA	ENST00000269305.4	-	7	953_955	c.764_766delTCA	c.(763-768)atcaca>aca	p.I255del	TP53_ENST00000445888.2_In_Frame_Del_p.I255del|TP53_ENST00000455263.2_In_Frame_Del_p.I255del|TP53_ENST00000359597.4_In_Frame_Del_p.I255del|TP53_ENST00000420246.2_In_Frame_Del_p.I255del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_In_Frame_Del_p.I255del	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	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		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.I255S(10)|p.0?(8)|p.I255N(7)|p.I255del(7)|p.I255T(7)|p.T256A(3)|p.T256fs*89(3)|p.T256fs*8(2)|p.T256S(2)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I255M(1)|p.T256fs*90(1)|p.T256P(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.T256fs*17(1)|p.I254_T256del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(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)	TCTTCCAGTGTGATGATGGTGAG	0.586		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"	62	Substitution - Missense(31)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Substitution - coding silent(2)|Unknown(1)	breast(15)|ovary(7)|pancreas(6)|central_nervous_system(5)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|oesophagus(3)|lung(3)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)																																								SO:0001651	inframe_deletion	0	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.764_766delTCA	17.37:g.7577518_7577520delTGA	ENSP00000269305:p.Ile255del		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.I255in_frame_del	ENST00000269305.4	37	c.766_764	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.586	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	45	0	TGA	NM_000546		7577517	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	56.67	13	17	DEL	1.000:1.000:1.000	-	-	7577517	TGA	-	7577515	7	5	166	1	0	1	0	1	0	0	0	0	16429	1696	59	0	524	0	TP53	17	7577515	In_Frame_Del	DEL	TGA	TCGA-VR-A8EU-01A-11D-A36J-09	6164985	7577515	73617695	186	41954											
MYH1	4619	genome.wustl.edu	37	chr17	10399868	10399868	+	Splice_Site	DEL	T	T	-																															cttcatgttcaagagatgccTtaatgacagcaagaggtgac																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:10399868delT	ENST00000226207.5	-	34	4751		c.e34-2		RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						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						AAGAGATGCCTTAATGACAGC	0.363																																																	0													77	78	78					17																	10399868		2202	4300	6502	SO:0001630	splice_region_variant	0				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.4657-2A>-	17.37:g.10399868delT			Q14CA4|Q9Y622	Splice_Site	DEL	-	e32-2	ENST00000226207.5	37	c.4657-2	CCDS11155.1	17																																																																																			MYH1	-	-	ENSG00000109061		0.363	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1		0	58	0	T	NM_005963	Intron	10399868	-1	tier1		no_errors	ENST00000226207	ensembl	human	known	74_37	splice_site_del	11.76	15	2	DEL	0.999	-	-	10399868	T	-	10399868	8	5	166	1	0	1	0	1	0	0	1	0	10067	1623	56	0	1192	0	MYH1	17	10399868	Splice_Site	DEL	T	TCGA-VR-A8EU-01A-11D-A36J-09	2822353	10399868	70795342	187	41955											
MYH2	4620	genome.wustl.edu	37	chr17	10435052	10435052	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacttggcaagttcgtctttAattttctgaaattcttcctt	8	19	6	8	1	3	1	0	1	3	0	5	2	4	1	1	1	0	2	1	1	3	9			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:10435052A>C	ENST00000245503.5	-	22	2979	c.2595T>G	c.(2593-2595)atT>atG	p.I865M	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.I865M|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	865					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTTCGTCTTTAATTTTCTGAA	0.433																																																	1	Unknown(1)	skin(1)											129	126	127					17																	10435052		2203	4300	6503	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2595T>G	17.37:g.10435052A>C	ENSP00000245503:p.Ile865Met		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I865M	ENST00000245503.5	37	c.2595	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	A	11.86	1.764397	0.31228	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.93426	-3.22;-3.22	4.71	-3.3	0.05003	.	0.405950	0.17657	U	0.166466	T	0.78923	0.4360	N	0.03281	-0.365	0.09310	N	0.999992	B	0.23128	0.08	B	0.33521	0.165	T	0.70920	-0.4741	10	0.22706	T	0.39	.	1.8737	0.03214	0.2814:0.1035:0.4062:0.2089	.	865	Q9UKX2	MYH2_HUMAN	M	865	ENSP00000245503:I865M;ENSP00000380367:I865M	ENSP00000245503:I865M	I	-	3	3	MYH2	10375777	0.000000	0.05858	0.962000	0.40283	0.943000	0.58893	-0.730000	0.04915	-0.374000	0.07967	0.459000	0.35465	ATT	MYH2	-	NULL	ENSG00000125414		0.433	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3		0	107	0	A	NM_017534		10435052	-1			no_errors	ENST00000245503	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.930	C	C	10435052	A	C	10435052	3	2	166	1	0	0	0	0	1	0	0	0	10073	358	13	4	3306	4	MYH2	17	10435052	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	35184	10435052	70760158	188	41956											
SHMT1	6470	genome.wustl.edu	37	chr17	18250887	18250887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaacccatgggtcaggtGgcccccatccggaaggtcca	9	6	12	14	1	1	1	1	1	0	0	3	2	3	2	5	5	1	0	5	5	2	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:18250887G>T	ENST00000316694.3	-	5	576	c.442C>A	c.(442-444)Cac>Aac	p.H148N	SHMT1_ENST00000354098.3_Missense_Mutation_p.H148N|SHMT1_ENST00000539052.1_Missense_Mutation_p.H10N|SHMT1_ENST00000352886.6_Missense_Mutation_p.H148N	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	148					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)	TGGGTCAGGTGGCCCCCATCC	0.537																																																	0													114	114	114					17																	18250887		2203	4300	6503	SO:0001583	missense	0				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.442C>A	17.37:g.18250887G>T	ENSP00000318868:p.His148Asn		B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	p.H148N	ENST00000316694.3	37	c.442	CCDS11196.1	17	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922356	0.52653	.	.	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	4.95	4.95	0.65309	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	H	0.97023	3.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.967;1.0	D	0.90242	0.4287	10	0.87932	D	0	-9.4568	18.577	0.91158	0.0:0.0:1.0:0.0	.	148;148;148;148	B4DZB5;A8MYA6;P34896-2;P34896	.;.;.;GLYC_HUMAN	N	148;148;10;148;148	ENSP00000318868:H148N;ENSP00000345881:H148N;ENSP00000440089:H10N;ENSP00000318805:H148N	ENSP00000318868:H148N	H	-	1	0	SHMT1	18191612	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.638000	0.98445	2.443000	0.82685	0.462000	0.41574	CAC	SHMT1	-	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	ENSG00000176974		0.537	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT1	HGNC	protein_coding	OTTHUMT00000130831.2		0	69	0	G	NM_004169		18250887	-1			no_errors	ENST00000316694	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T	T	18250887	G	T	18250887	3	4	166	1	0	0	0	0	1	0	0	0	14330	1348	47	3	1041	3	SHMT1	17	18250887	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	7815835	18250887	62944323	189	41957											
ACACA	31	genome.wustl.edu	37	chr17	35633933	35633933	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaacagcttacccatgaaGgcaatgccatttttcaagag	14	9	8	10	0	1	3	1	1	0	2	1	3	1	3	2	1	4	2	2	1	5	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:35633933G>T	ENST00000394406.2	-	7	874	c.684C>A	c.(682-684)gcC>gcA	p.A228A	ACACA_ENST00000353139.5_Silent_p.A265A|ACACA_ENST00000335166.5_Silent_p.A150A|ACACA_ENST00000360679.3_Silent_p.A170A	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	228	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)	TACCCATGAAGGCAATGCCAT	0.408																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													140	139	139					17																	35633933		2203	4300	6503	SO:0001819	synonymous_variant	0			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.684C>A	17.37:g.35633933G>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.A265	ENST00000394406.2	37	c.795	CCDS11317.1	17																																																																																			ACACA	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pfscan_Biotin_carboxylation_dom	ENSG00000132142		0.408	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0	80	0	G	NM_198836		35633933	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	silent	48.65	19	18	SNP	1.000	T	T	35633933	G	T	35633933	2	4	166	1	0	0	0	0	0	0	0	1	106	987	35	3		3	ACACA	17	35633933	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	17383046	35633933	45561277	190	41958											
THRA	7067	genome.wustl.edu	37	chr17	38233778	38233778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtatatccctagttacCtggacaaagacgagcagtgt	12	9	11	9	1	0	1	0	0	0	1	1	3	1	2	2	2	2	3	2	2	5	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:38233778C>A	ENST00000264637.4	+	4	719	c.139C>A	c.(139-141)Ctg>Atg	p.L47M	THRA_ENST00000546243.1_Missense_Mutation_p.L47M|THRA_ENST00000394121.4_Missense_Mutation_p.L47M|THRA_ENST00000450525.2_Missense_Mutation_p.L47M|THRA_ENST00000584985.1_Missense_Mutation_p.L47M	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	47	Modulating.				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)	CCCTAGTTACCTGGACAAAGA	0.542																																																	0													197	159	171					17																	38233778		2203	4300	6503	SO:0001583	missense	0			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.139C>A	17.37:g.38233778C>A	ENSP00000264637:p.Leu47Met		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L47M	ENST00000264637.4	37	c.139	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016020	0.75161	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.94232	-3.24;-3.24;-3.38;-3.38	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000002	D	0.94241	0.8151	L	0.36672	1.1	0.53005	D	0.999962	P;P;D	0.71674	0.854;0.887;0.998	P;P;D	0.80764	0.665;0.593;0.994	D	0.93862	0.7154	10	0.54805	T	0.06	.	12.7421	0.57259	0.0:0.9208:0.0:0.0792	.	47;47;47	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	M	47	ENSP00000377679:L47M;ENSP00000264637:L47M;ENSP00000395641:L47M;ENSP00000443972:L47M	ENSP00000264637:L47M	L	+	1	2	THRA	35487304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.085000	0.41634	2.707000	0.92482	0.484000	0.47621	CTG	THRA	-	prints_ThyrH_rcpt	ENSG00000126351		0.542	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2	-	0	47	0	C			38233778	1	tier1	-	no_errors	ENST00000264637	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A	A	38233778	C	A	38233778	3	1	166	1	0	0	0	0	1	0	0	0	15920	680	24	3	149	3	THRA	17	38233778	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	2599845	38233778	42961432	191	41959											
COL1A1	1277	genome.wustl.edu	37	chr17	48272618	48272618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacccttgggaccaggagggCcgccggggccctggggtcca	5	5	17	14	2	0	0	0	0	0	0	1	2	1	2	6	7	1	0	6	7	1	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:48272618C>A	ENST00000225964.5	-	19	1392	c.1274G>T	c.(1273-1275)gGc>gTc	p.G425V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	425	Triple-helical region.		G -> S (in OI2; lethal form). {ECO:0000269|PubMed:18996919, ECO:0000269|PubMed:7691343}.		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)	ACCAGGAGGGCCGCCGGGGCC	0.667			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													28	37	34					17																	48272618		2201	4298	6499	SO:0001583	missense	0			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.1274G>T	17.37:g.48272618C>A	ENSP00000225964:p.Gly425Val		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G425V	ENST00000225964.5	37	c.1274	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548743	0.65311	.	.	ENSG00000108821	ENST00000225964	D	0.99353	-5.77	5.61	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.99156	4.45	0.80722	D	1	P	0.41643	0.758	P	0.51895	0.683	D	0.97392	0.9990	10	0.87932	D	0	.	14.6633	0.68888	0.147:0.853:0.0:0.0	.	425	P02452	CO1A1_HUMAN	V	425	ENSP00000225964:G425V	ENSP00000225964:G425V	G	-	2	0	COL1A1	45627617	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	6.047000	0.71038	1.338000	0.45544	0.557000	0.71058	GGC	COL1A1	-	pfam_Collagen	ENSG00000108821		0.667	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2	-	0	90	0	C			48272618	-1	tier1	-	no_errors	ENST00000225964	ensembl	human	known	74_37	missense	45.95	20	17	SNP	1.000	A	A	48272618	C	A	48272618	3	1	166	1	0	0	0	0	1	0	0	0	3684	739	26	3	3252	3	COL1A1	17	48272618	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	10038840	48272618	32922592	192	41960											
TLK2	11011	genome.wustl.edu	37	chr17	60679450	60679450	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtgtggagagataaaaattAcagattttggtctttcgaag	13	13	11	4	2	1	2	0	0	1	2	2	5	1	3	0	2	1	0	0	2	5	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:60679450A>G	ENST00000326270.9	+	20	2102	c.1834A>G	c.(1834-1836)Aca>Gca	p.T612A	TLK2_ENST00000343388.7_Missense_Mutation_p.T558A|TLK2_ENST00000582809.1_Missense_Mutation_p.T441A|TLK2_ENST00000542523.1_Missense_Mutation_p.T558A|TLK2_ENST00000346027.5_Missense_Mutation_p.T590A	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	612	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GATAAAAATTACAGATTTTGG	0.348																																																	0													96	92	93					17																	60679450		2203	4300	6503	SO:0001583	missense	0			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.1834A>G	17.37:g.60679450A>G	ENSP00000316512:p.Thr612Ala		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T612A	ENST00000326270.9	37	c.1834		17	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729371	0.48833	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	N	0.01048	-1.04	0.80722	D	1	D;P;B;B	0.59357	0.985;0.701;0.311;0.216	P;B;B;B	0.62491	0.903;0.409;0.146;0.19	T	0.55256	-0.8169	10	0.87932	D	0	.	15.2878	0.73843	1.0:0.0:0.0:0.0	.	612;558;590;590	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	A	590;558;612;558	ENSP00000275780:T590A;ENSP00000340800:T558A;ENSP00000316512:T612A;ENSP00000442311:T558A	ENSP00000316512:T612A	T	+	1	0	TLK2	58033182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.201000	0.70794	0.459000	0.35465	ACA	TLK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000146872		0.348	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1		0	42	0	A	NM_006852		60679450	1			no_errors	ENST00000326270	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	G	G	60679450	A	G	60679450	3	3	166	1	0	0	0	0	1	0	0	0	15991	391	14	4	1838	4	TLK2	17	60679450	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	12406832	60679450	20515760	193	41961											
ABCA6	23460	genome.wustl.edu	37	chr17	67080613	67080613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaatttctgcacaggaacaTtcagctgctcatgcagtttg	10	14	8	9	0	3	0	2	0	1	0	3	1	3	1	0	1	5	5	0	1	2	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:67080613T>C	ENST00000284425.2	-	33	4394	c.4220A>G	c.(4219-4221)aAt>aGt	p.N1407S	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1407	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CACAGGAACATTCAGCTGCTC	0.453																																																	0													291	251	265					17																	67080613		2203	4300	6503	SO:0001583	missense	0			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.4220A>G	17.37:g.67080613T>C	ENSP00000284425:p.Asn1407Ser		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.N1407S	ENST00000284425.2	37	c.4220	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	13.57	2.275502	0.40294	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	T	0.14144	2.53	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.229315	0.30142	N	0.010302	T	0.15565	0.0375	L	0.41415	1.275	0.80722	D	1	B	0.19073	0.033	B	0.32928	0.155	T	0.04165	-1.0972	10	0.59425	D	0.04	.	11.0931	0.48128	0.0:0.0741:0.0:0.9259	.	1407	Q8N139	ABCA6_HUMAN	S	1407;267	ENSP00000284425:N1407S	ENSP00000284425:N1407S	N	-	2	0	ABCA6	64592208	0.724000	0.28038	0.045000	0.18777	0.769000	0.43574	5.082000	0.64450	2.171000	0.68590	0.533000	0.62120	AAT	ABCA6	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154262		0.453	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0	35	0	T	NM_080284		67080613	-1	tier1	-	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.222	C	C	67080613	T	C	67080613	3	2	166	1	0	0	0	0	1	0	0	0	36	1493	52	4	661	4	ABCA6	17	67080613	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	6401163	67080613	14114597	194	41962											
COG1	9382	genome.wustl.edu	37	chr17	71192713	71192713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctactcttagaaattcCggagaagatctggagctcga	13	9	10	9	2	2	3	0	0	2	3	4	6	3	4	1	2	3	2	1	2	5	3	rs548449163		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:71192713C>T	ENST00000299886.4	+	2	463	c.383C>T	c.(382-384)cCg>cTg	p.P128L	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	128					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)			TTAGAAATTCCGGAGAAGATC	0.552													C|||	1	0.000199681	0	0	5008	,	,		17174	0		0	False		,,,				2504	0.001																0													108	114	112					17																	71192713		2203	4300	6503	SO:0001583	missense	0				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.383C>T	17.37:g.71192713C>T	ENSP00000299886:p.Pro128Leu		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	NULL	p.P128L	ENST00000299886.4	37	c.383	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	C	12.22	1.874077	0.33069	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.56275	0.47;0.51	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	M	0.71581	2.175	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	T	0.75068	-0.3448	10	0.59425	D	0.04	-23.7945	18.0856	0.89456	0.0:1.0:0.0:0.0	.	128;128;128	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	L	128	ENSP00000400111:P128L;ENSP00000299886:P128L	ENSP00000299886:P128L	P	+	2	0	COG1	68704308	1.000000	0.71417	0.595000	0.28798	0.285000	0.27093	7.030000	0.76484	2.500000	0.84329	0.591000	0.81541	CCG	COG1	-	NULL	ENSG00000166685		0.552	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1		0	52	0	C			71192713	1			no_errors	ENST00000299886	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T	T	71192713	C	T	71192713	3	4	166	1	0	0	0	0	1	0	0	0	3664	652	23	1	389	1	COG1	17	71192713	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	4112100	71192713	10002497	195	41963											
KIF19	124602	genome.wustl.edu	37	chr17	72346553	72346553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggcagctgaggtccagctGcacagcgggcagggtgagaa	9	5	17	10	2	0	2	0	2	0	1	2	3	1	2	1	4	4	5	1	4	1	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:72346553G>A	ENST00000389916.4	+	11	1365	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	409					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						AGGTCCAGCTGCACAGCGGGC	0.667																																																	0													10	12	11					17																	72346553		2188	4287	6475	SO:0001819	synonymous_variant	0			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.1227G>A	17.37:g.72346553G>A			A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.L409	ENST00000389916.4	37	c.1227	CCDS32718.2	17																																																																																			KIF19	-	NULL	ENSG00000196169		0.667	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	-	0	97	0	G	NM_153209		72346553	1	tier1	-	no_errors	ENST00000389916	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.977	A	A	72346553	G	A	72346553	2	1	166	1	0	0	0	0	0	0	0	1	8309	1306	46	3		3	KIF19	17	72346553	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	1153840	72346553	8848657	196	41964											
MGAT5B	146664	genome.wustl.edu	37	chr17	74898723	74898723	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgtgaaggtggaccagatccTgcgccacagtctgctcctgc	7	9	12	13	1	1	2	0	1	1	1	3	3	3	3	4	2	3	1	4	2	1	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:74898723T>C	ENST00000569840.2	+	4	990	c.416T>C	c.(415-417)cTg>cCg	p.L139P	MGAT5B_ENST00000428789.2_Missense_Mutation_p.L150P|MGAT5B_ENST00000301618.4_Missense_Mutation_p.L139P|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	139					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						GACCAGATCCTGCGCCACAGT	0.652																																																	0													25	21	22					17																	74898723		2201	4300	6501	SO:0001583	missense	0			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.416T>C	17.37:g.74898723T>C	ENSP00000456037:p.Leu139Pro		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.L150P	ENST00000569840.2	37	c.449	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378452	0.82682	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.56275	0.48;0.47	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000007	T	0.67088	0.2856	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70008	-0.4990	10	0.72032	D	0.01	-17.2704	14.3788	0.66897	0.0:0.0:0.0:1.0	.	150;139	Q3V5L5-2;Q3V5L5-5	.;.	P	139;139;150	ENSP00000301618:L139P;ENSP00000391227:L150P	ENSP00000301618:L139P	L	+	2	0	MGAT5B	72410318	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.703000	0.74633	1.985000	0.57927	0.533000	0.62120	CTG	MGAT5B	-	NULL	ENSG00000167889		0.652	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	-	0	96	0	T	NM_144677		74898723	1	tier1	-	no_errors	ENST00000428789	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	C	C	74898723	T	C	74898723	3	2	166	1	0	0	0	0	1	0	0	0	9587	1580	55	4	531	4	MGAT5B	17	74898723	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	2552170	74898723	6296487	197	41965											
KIAA0802	23255	genome.wustl.edu	37	chr18	8819135	8819135	+	Frame_Shift_Del	DEL	A	A	-																															accggccgctgtccaagctgAaggagtcggacaggtgctcg																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr18:8819135delA	ENST00000306329.11	+	11	3991	c.3991delA	c.(3991-3993)aagfs	p.K1331fs	SOGA2_ENST00000400050.3_Frame_Shift_Del_p.K971fs|SOGA2_ENST00000306285.7_Frame_Shift_Del_p.K337fs|SOGA2_ENST00000359865.3_Frame_Shift_Del_p.K1012fs|SOGA2_ENST00000517570.1_Frame_Shift_Del_p.K971fs|SOGA2_ENST00000518815.1_Frame_Shift_Del_p.K337fs																							GTCCAAGCTGAAGGAGTCGGA	0.627																																																	0													49	46	47					18																	8819135		2203	4300	6503	SO:0001589	frameshift_variant	0																														ENST00000306329.11:c.3991delA	18.37:g.8819135delA	ENSP00000305027:p.Lys1331fs			Frame_Shift_Del	DEL	pfam_SOGA	p.K1012fs	ENST00000306329.11	37	c.3034		18																																																																																			SOGA2	-	NULL	ENSG00000168502		0.627	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1		0	75	0	A			8819135	1	tier1		no_errors	ENST00000359865	ensembl	human	known	74_37	frame_shift_del	13.33	13	2	DEL	1.000	-	-	8819135	A	-	8819135	7	5	166	1	0	1	0	1	0	0	0	0	8221	247	9	0	3076	0	KIAA0802	18	8819135	Frame_Shift_Del	DEL	A	TCGA-VR-A8EU-01A-11D-A36J-09		8819135	69258113	198	41966											
DSG1	1828	genome.wustl.edu	37	chr18	28913559	28913559	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgtatttttagcaatacgGccagtatgctcttgctgtaa	10	16	8	7	1	1	0	0	0	1	0	1	0	1	0	1	1	4	6	1	1	7	9	rs201719724	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr18:28913559G>C	ENST00000257192.4	+	7	904	c.692G>C	c.(691-693)gGc>gCc	p.G231A		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAGCAATACGGCCAGTATGCT	0.423																																																	0													114	104	108					18																	28913559		2203	4300	6503	SO:0001583	missense	0			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.692G>C	18.37:g.28913559G>C	ENSP00000257192:p.Gly231Ala		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.G231A	ENST00000257192.4	37	c.692	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	G	9.089	1.001163	0.19121	.	.	ENSG00000134760	ENST00000257192	T	0.61158	0.13	5.82	2.78	0.32641	Cadherin (4);Cadherin-like (1);	0.663946	0.14736	N	0.301475	T	0.34308	0.0893	N	0.01424	-0.875	0.09310	N	0.999999	B	0.11235	0.004	B	0.18871	0.023	T	0.25710	-1.0124	10	0.42905	T	0.14	.	18.4867	0.90831	0.0:0.3423:0.6577:0.0	.	231	Q02413	DSG1_HUMAN	A	231	ENSP00000257192:G231A	ENSP00000257192:G231A	G	+	2	0	DSG1	27167557	0.983000	0.35010	0.662000	0.29724	0.366000	0.29705	2.275000	0.43399	0.751000	0.32900	0.655000	0.94253	GGC	DSG1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000134760		0.423	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1		0	56	0	G	NM_001942		28913559	1			no_errors	ENST00000257192	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.102	C	C	28913559	G	C	28913559	3	2	166	1	0	0	0	0	1	0	0	0	4790	1203	42	5	718	5	DSG1	18	28913559	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	20094424	28913559	49163689	199	41967											
INO80C	125476	genome.wustl.edu	37	chr18	33077820	33077820	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggaagtggtggccacaaTtggaatttgcgccgccatcg	9	9	14	9	3	0	0	0	0	0	0	1	2	0	2	3	4	1	0	3	4	3	2	rs375954359		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr18:33077820T>C	ENST00000334598.7	-	1	135	c.19A>G	c.(19-21)Att>Gtt	p.I7V	INO80C_ENST00000586489.1_5'Flank|INO80C_ENST00000590757.1_Missense_Mutation_p.I7V|INO80C_ENST00000441607.2_Missense_Mutation_p.I7V|RP11-322E11.6_ENST00000589258.1_Missense_Mutation_p.I7V|INO80C_ENST00000592173.1_Missense_Mutation_p.I7V	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	7					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)		p.I7F(1)		central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						GTGGCCACAATTGGAATTTGC	0.622																																																	1	Substitution - Missense(1)	endometrium(1)						T	VAL/ILE,VAL/ILE	0,4406		0,0,2203	32	31	31		19,19	2.1	0.5	18		31	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	INO80C	NM_001098817.1,NM_194281.3	29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	7/229,7/193	33077820	1,13005	2203	4300	6503	SO:0001583	missense	0				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.19A>G	18.37:g.33077820T>C	ENSP00000334473:p.Ile7Val		B4DUI4|E9PCS7|Q86WR1|Q8N994	Missense_Mutation	SNP	pfam_YL1_C	p.I7V	ENST00000334598.7	37	c.19	CCDS11914.1	18	.	.	.	.	.	.	.	.	.	.	T	10.99	1.506749	0.26949	0.0	1.16E-4	ENSG00000153391	ENST00000283410;ENST00000441607;ENST00000334598	.	.	.	4.61	2.06	0.26882	.	0.501226	0.20400	N	0.093061	T	0.33469	0.0864	N	0.22421	0.69	0.54753	D	0.999985	B;B;B	0.27932	0.015;0.003;0.194	B;B;B	0.26864	0.017;0.007;0.074	T	0.04870	-1.0921	9	0.21540	T	0.41	.	8.8574	0.35236	0.0:0.0:0.3702:0.6298	.	7;7;7	E9PCS7;Q6PI98;Q6PI98-3	.;IN80C_HUMAN;.	V	7	.	ENSP00000283410:I7V	I	-	1	0	INO80C	31331818	0.997000	0.39634	0.468000	0.27192	0.428000	0.31595	1.108000	0.31123	0.320000	0.23234	0.454000	0.30748	ATT	INO80C	-	NULL	ENSG00000153391		0.622	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80C	HGNC	protein_coding	OTTHUMT00000255768.1	-	0	119	0	T	NM_194281		33077820	-1	tier1	-	no_errors	ENST00000441607	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.556	C	C	33077820	T	C	33077820	3	2	166	1	0	0	0	0	1	0	0	0	7775	1493	52	4	695	4	INO80C	18	33077820	Missense_Mutation	SNP	T	TCGA-VR-A8EU-01A-11D-A36J-09	4164261	33077820	44999428	200	41968											
ATP5A1	498	genome.wustl.edu	37	chr18	43669554	43669554	+	Frame_Shift_Del	DEL	T	T	-																															agtctgtcggtcaccaataaTcagttcacgctgaccacgac																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr18:43669554delT	ENST00000398752.6	-	5	749	c.628delA	c.(628-630)attfs	p.I211fs	ATP5A1_ENST00000590665.1_Frame_Shift_Del_p.I189fs|ATP5A1_ENST00000593152.2_Frame_Shift_Del_p.I161fs|ATP5A1_ENST00000282050.2_Frame_Shift_Del_p.I211fs	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	211					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						TCACCAATAATCAGTTCACGC	0.428																																																	0													82	73	76					18																	43669554		2203	4300	6503	SO:0001589	frameshift_variant	0			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.628delA	18.37:g.43669554delT	ENSP00000381736:p.Ile211fs		A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Frame_Shift_Del	DEL	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_F1-cplx_asu	p.I210fs	ENST00000398752.6	37	c.628	CCDS11927.1	18																																																																																			ATP5A1	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_F1-cplx_asu	ENSG00000152234		0.428	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5A1	HGNC	protein_coding	OTTHUMT00000255884.1		0	43	0	T	NM_004046		43669554	-1	tier1		no_errors	ENST00000282050	ensembl	human	known	74_37	frame_shift_del	12.50	14	2	DEL	1.000	-	-	43669554	T	-	43669554	7	5	166	1	0	1	0	1	0	0	0	0	1148	1435	50	0	1065	0	ATP5A1	18	43669554	Frame_Shift_Del	DEL	T	TCGA-VR-A8EU-01A-11D-A36J-09	10591734	43669554	34407694	201	41969											
CDH19	28513	genome.wustl.edu	37	chr18	64235834	64235834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctctctatcaagcttCtgtatggcatatatgtcacc	8	14	6	13	1	4	0	2	0	2	0	6	0	5	0	2	1	1	4	2	1	5	5			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr18:64235834C>A	ENST00000540086.1	-	3	555	c.309G>T	c.(307-309)caG>caT	p.Q103H	CDH19_ENST00000262150.2_Missense_Mutation_p.Q103H	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	211	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TATCAAGCTTCTGTATGGCAT	0.433																																																	0													133	128	130					18																	64235834		2203	4299	6502	SO:0001583	missense	0			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.309G>T	18.37:g.64235834C>A	ENSP00000439593:p.Gln103His		O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q103H	ENST00000540086.1	37	c.309	CCDS59325.1	18	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635916	0.29068	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.52754	0.65;0.65	5.87	4.08	0.47627	Cadherin (5);Cadherin-like (1);	0.655520	0.15278	N	0.270855	T	0.67571	0.2907	M	0.82630	2.6	0.29381	N	0.863345	D;D	0.65815	0.995;0.993	P;D	0.65443	0.861;0.935	T	0.64943	-0.6288	10	0.87932	D	0	.	10.2734	0.43495	0.0:0.7813:0.0:0.2187	.	103;103	F5H1K0;Q9H159	.;CAD19_HUMAN	H	103;103;48	ENSP00000262150:Q103H;ENSP00000439593:Q103H	ENSP00000262150:Q103H	Q	-	3	2	CDH19	62386814	0.809000	0.29036	0.977000	0.42913	0.954000	0.61252	1.019000	0.30014	1.498000	0.48600	0.591000	0.81541	CAG	CDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000071991		0.433	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000442285.1	-	0	70	0	C	NM_021153		64235834	-1	tier1	-	no_errors	ENST00000262150	ensembl	human	known	74_37	missense	28.00	18	7	SNP	0.958	A	A	64235834	C	A	64235834	3	1	166	1	0	0	0	0	1	0	0	0	3111	912	32	3	2049	3	CDH19	18	64235834	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	20566280	64235834	13841414	202	41970											
TCF3	6929	genome.wustl.edu	37	chr19	1612273	1612273	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatgagcagcttggtctgCgctttgtccgacttgaggtg	6	12	15	8	2	1	2	0	2	1	0	2	4	2	3	1	3	3	3	1	3	0	3	rs372813564		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:1612273C>T	ENST00000344749.5	-	18	1812	c.1746G>A	c.(1744-1746)gcG>gcA	p.A582A	TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Silent_p.A582A|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Silent_p.A497A	NM_001136139.2	NP_001129611.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					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)		GCTTGGTCTGCGCTTTGTCCG	0.672			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													61	58	59					19																	1612273		1568	3582	5150	SO:0001819	synonymous_variant	0			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	ENST00000344749.5:c.1746G>A	19.37:g.1612273C>T			Q53R97|Q6PD70|Q9NP00	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A582	ENST00000344749.5	37	c.1746	CCDS45899.1	19																																																																																			TCF3	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000071564		0.672	TCF3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF3	HGNC	protein_coding	OTTHUMT00000449375.1	-	0	34	0	C	NM_003200		1612273	-1	tier1	-	no_errors	ENST00000344749	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.996	T	T	1612273	C	T	1612273	2	4	166	1	0	0	0	0	0	0	0	1	15741	755	27	1		1	TCF3	19	1612273	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09		1612273	57516710	203	41971											
FUT3	2525	genome.wustl.edu	37	chr19	5844729	5844729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagccctaggggatccagtgGcatcgtctcgggacacacgc	8	6	14	13	3	1	0	0	0	1	0	4	3	2	2	2	4	1	1	2	4	1	1	rs147904934		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:5844729G>T	ENST00000303225.6	-	3	756	c.122C>A	c.(121-123)gCc>gAc	p.A41D	AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589918.1_Missense_Mutation_p.A41D|FUT3_ENST00000589620.1_Missense_Mutation_p.A41D|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.A41D	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	41					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						GGATCCAGTGGCATCGTCTCG	0.622																																					Esophageal Squamous(82;745 1728 24593 44831)												0													24	25	25					19																	5844729		2203	4300	6503	SO:0001583	missense	0				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.122C>A	19.37:g.5844729G>T	ENSP00000305603:p.Ala41Asp		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.A41D	ENST00000303225.6	37	c.122	CCDS12153.1	19	.	.	.	.	.	.	.	.	.	.	G	8.726	0.915561	0.17907	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.23552	1.9;1.9	1.67	0.514	0.17007	.	1.607640	0.03586	N	0.230941	T	0.29588	0.0738	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.37781	0.549;0.608;0.608;0.608	P;B;B;B	0.46049	0.502;0.397;0.397;0.397	T	0.20042	-1.0287	10	0.21540	T	0.41	.	3.8153	0.08814	0.0:0.2748:0.4466:0.2786	.	41;41;41;41	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	D	41	ENSP00000305603:A41D;ENSP00000416443:A41D	ENSP00000305603:A41D	A	-	2	0	FUT3	5795729	0.050000	0.20438	0.001000	0.08648	0.257000	0.26127	2.713000	0.47194	0.219000	0.20840	0.205000	0.17691	GCC	FUT3	-	pfam_Glyco_trans_10	ENSG00000171124		0.622	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FUT3	HGNC	protein_coding	OTTHUMT00000452204.1		0	104	0	G	NM_000149		5844729	-1			no_errors	ENST00000303225	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.001	T	T	5844729	G	T	5844729	3	4	166	1	0	0	0	0	1	0	0	0	6129	1203	42	3	967	3	FUT3	19	5844729	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	4232456	5844729	53284254	204	41972											
RANBP3	8498	genome.wustl.edu	37	chr19	5951443	5951443	+	Silent	SNP	A	A	G	1	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	aaaggaggaagctgggcttcAggagcgggaggcggaggagt	11	4	21	5	2	1	0	1	0	0	0	1	6	1	6	0	8	2	2	0	8	2	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:5951443A>G	ENST00000340578.6	-	3	300	c.243T>C	c.(241-243)ccT>ccC	p.P81P	RANBP3_ENST00000591124.1_Intron|RANBP3_ENST00000439268.2_Silent_p.P81P|RANBP3_ENST00000591092.1_Intron|RANBP3_ENST00000034275.8_Intron|RANBP3_ENST00000541471.1_Intron	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	81	Poly-Pro.				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						GCTGGGCTTCAGGAGCGGGAG	0.677																																																	0													13	19	17					19																	5951443		2058	4195	6253	SO:0001819	synonymous_variant	0			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.243T>C	19.37:g.5951443A>G			B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.P81	ENST00000340578.6	37	c.243	CCDS42478.1	19																																																																																			RANBP3	-	NULL	ENSG00000031823		0.677	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	-	0	119	0	A	NM_007322		5951443	-1	tier1	-	no_errors	ENST00000340578	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	G	G	5951443	A	G	5951443	2	3	166	1	0	0	0	0	0	0	0	1	13074	175	7	4		4	RANBP3	19	5951443	Silent	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	106714	5951443	53177540	205	41973											
KEAP1	9817	genome.wustl.edu	37	chr19	10602767	10602767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgtcaacgagtggcagcgcaCggcccgcagcagcgcctgga	8	3	15	15	6	1	0	1	0	0	0	1	2	1	1	2	3	4	4	2	3	1	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:10602767C>T	ENST00000171111.5	-	3	1358	c.811G>A	c.(811-813)Gtg>Atg	p.V271M	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.V271M|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	271	BACK.				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)	TGGCAGCGCACGGCCCGCAGC	0.617																																																	0													57	57	57					19																	10602767		2203	4300	6503	SO:0001583	missense	0			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.811G>A	19.37:g.10602767C>T	ENSP00000171111:p.Val271Met		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V271M	ENST00000171111.5	37	c.811	CCDS12239.1	19	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872774	0.91587	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.78003	-1.14;-1.14	5.61	5.61	0.85477	BTB/Kelch-associated (2);	0.056422	0.64402	D	0.000001	D	0.90477	0.7017	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.92433	0.5955	10	0.87932	D	0	.	17.1459	0.86766	0.0:1.0:0.0:0.0	.	271	Q14145	KEAP1_HUMAN	M	271	ENSP00000171111:V271M;ENSP00000377245:V271M	ENSP00000171111:V271M	V	-	1	0	KEAP1	10463767	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	5.874000	0.69652	2.656000	0.90262	0.561000	0.74099	GTG	KEAP1	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.617	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	-	0	29	0	C	NM_012289		10602767	-1	tier1	-	no_errors	ENST00000171111	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	T	T	10602767	C	T	10602767	3	4	166	1	0	0	0	0	1	0	0	0	8168	536	19	1	1079	1	KEAP1	19	10602767	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	4651324	10602767	48526216	206	41974											
CPAMD8	27151	genome.wustl.edu	37	chr19	17032782	17032782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctggcgcttgtaggtcaGctggcgctggtagcctgtgg	4	11	16	10	2	1	0	1	0	0	0	2	0	2	0	2	5	2	5	2	5	2	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:17032782G>T	ENST00000443236.1	-	27	3734	c.3703C>A	c.(3703-3705)Ctg>Atg	p.L1235M		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1188						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						TTGTAGGTCAGCTGGCGCTGG	0.677																																																	0													25	35	32					19																	17032782		1766	3538	5304	SO:0001583	missense	0			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.3703C>A	19.37:g.17032782G>T	ENSP00000402505:p.Leu1235Met		Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.L1235M	ENST00000443236.1	37	c.3703	CCDS42519.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.01|16.01	3.001804|3.001804	0.54254|0.54254	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|T	.|0.43688	.|0.94	2.84|2.84	0.492|0.492	0.16872|0.16872	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);|.	0.000000|.	0.53938|.	U|.	0.000059|.	T|T	0.43875|0.43875	0.1267|0.1267	L|L	0.58583|0.58583	1.82|1.82	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70716|.	0.97|.	T|T	0.17837|0.17837	-1.0356|-1.0356	9|6	0.59425|.	D|.	0.04|.	.|.	7.5766|7.5766	0.27939|0.27939	0.2149:0.0:0.7851:0.0|0.2149:0.0:0.7851:0.0	.|.	1188|.	Q8IZJ3|.	CPMD8_HUMAN|.	M|R	1235|1245	.|ENSP00000402505:S1245R	ENSP00000291440:L1235M|.	L|S	-|-	1|3	2|2	CPAMD8|CPAMD8	16893782|16893782	1.000000|1.000000	0.71417|0.71417	0.893000|0.893000	0.35052|0.35052	0.966000|0.966000	0.64601|0.64601	2.135000|2.135000	0.42112|0.42112	-0.250000|-0.250000	0.09555|0.09555	0.561000|0.561000	0.74099|0.74099	CTG|AGC	CPAMD8	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000160111		0.677	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	-	0	76	0	G	NM_015692		17032782	-1	tier1	-	no_errors	ENST00000443236	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	17032782	G	T	17032782	3	4	166	1	0	0	0	0	1	0	0	0	3802	962	34	3	2159	3	CPAMD8	19	17032782	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	6430015	17032782	42096201	207	41975											
CCDC124	115098	genome.wustl.edu	37	chr19	18054449	18054449	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcgcagctgaaacagctGctcaagaaggagtggctccg	10	7	13	11	2	1	2	1	1	0	1	3	3	2	3	1	2	4	5	1	2	3	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:18054449G>A	ENST00000597436.1	+	5	704	c.597G>A	c.(595-597)ctG>ctA	p.L199L	CCDC124_ENST00000445755.2_Silent_p.L199L	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	199					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						TGAAACAGCTGCTCAAGAAGG	0.602																																																	0													29	35	33					19																	18054449		2202	4300	6502	SO:0001819	synonymous_variant	0			BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.597G>A	19.37:g.18054449G>A				Silent	SNP	pfam_DUF1014,superfamily_HMG_box_dom	p.L199	ENST00000597436.1	37	c.597	CCDS12369.1	19																																																																																			CCDC124	-	pfam_DUF1014,superfamily_HMG_box_dom	ENSG00000007080		0.602	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC124	HGNC	protein_coding	OTTHUMT00000466484.1	-	0	85	0	G	NM_138442		18054449	1	tier1	-	no_errors	ENST00000445755	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	A	A	18054449	G	A	18054449	2	1	166	1	0	0	0	0	0	0	0	1	2767	1306	46	3		3	CCDC124	19	18054449	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	1021667	18054449	41074534	208	41976											
ZNF429	353088	genome.wustl.edu	37	chr19	21720005	21720005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cttttaaccagtcttcaagaCttactcgacataaaaaaatt	16	13	3	9	1	2	1	1	0	1	1	3	2	2	1	1	0	2	0	1	0	7	6			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:21720005C>A	ENST00000358491.4	+	4	1358	c.1150C>A	c.(1150-1152)Ctt>Att	p.L384I	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	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)|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						GTCTTCAAGACTTACTCGACA	0.363																																																	0													41	47	45					19																	21720005		2059	4238	6297	SO:0001583	missense	0			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.1150C>A	19.37:g.21720005C>A	ENSP00000351280:p.Leu384Ile		A6NLV7|Q9BZE6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L384I	ENST00000358491.4	37	c.1150	CCDS42537.1	19	.	.	.	.	.	.	.	.	.	.	.	10.45	1.354362	0.24512	.	.	ENSG00000197013	ENST00000358491	T	0.53857	0.6	0.185	0.185	0.15096	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64249	0.2581	M	0.92077	3.27	0.09310	N	1	B	0.25563	0.129	B	0.39617	0.305	T	0.64956	-0.6285	9	0.87932	D	0	.	4.9819	0.14170	0.3412:0.6588:0.0:1.0E-4	.	384	Q86V71	ZN429_HUMAN	I	384	ENSP00000351280:L384I	ENSP00000351280:L384I	L	+	1	0	ZNF429	21511845	0.057000	0.20700	0.093000	0.20910	0.094000	0.18550	0.519000	0.22862	0.293000	0.22520	0.298000	0.19748	CTT	ZNF429	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197013		0.363	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	-	0	72	0	C	NM_001001415		21720005	1	tier1	-	no_errors	ENST00000358491	ensembl	human	novel	74_37	missense	28.95	27	11	SNP	0.013	A	A	21720005	C	A	21720005	3	1	166	1	0	0	0	0	1	0	0	0	17950	565	20	3	1164	3	ZNF429	19	21720005	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	3665556	21720005	37408978	209	41977											
CD22	933	genome.wustl.edu	37	chr19	35832388	35832388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaaatggcaggcttctGgggaaagaaagccagctgaa	16	5	14	6	0	1	3	0	1	1	2	1	5	1	4	1	4	2	3	1	4	5	1	rs143303785		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:35832388G>A	ENST00000085219.5	+	8	1716	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	CD22_ENST00000536635.2_Silent_p.L462L|CD22_ENST00000594250.1_Silent_p.L373L|CD22_ENST00000544992.2_Silent_p.L550L|CD22_ENST00000419549.2_Silent_p.L378L|CD22_ENST00000270311.6_Silent_p.L430L|CD22_ENST00000341773.6_Silent_p.L373L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	550	Ig-like C2-type 5.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCAGGCTTCTGGGGAAAGAAA	0.517																																					Ovarian(42;1009 1133 23674 26041)												0								G	,,,	1,4405	2.1+/-5.4	0,1,2202	42	45	44		1386,1650,1119,1650	2	0	19	dbSNP_134	44	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD22	NM_001185099.1,NM_001185100.1,NM_001185101.1,NM_001771.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	462/760,550/752,373/671,550/848	35832388	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1650G>A	19.37:g.35832388G>A			F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L550	ENST00000085219.5	37	c.1650	CCDS12457.1	19																																																																																			CD22	-	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000012124		0.517	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1		0	58	0	G	NM_001771		35832388	1			no_errors	ENST00000085219	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.001	A	A	35832388	G	A	35832388	2	1	166	1	0	0	0	0	0	0	0	1	2992	1335	47	3		3	CD22	19	35832388	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	14112383	35832388	23296595	210	41978											
ZNF382	84911	genome.wustl.edu	37	chr19	37117924	37117924	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacatcacaaaacacatacGggggagaaagcctatgaatg	18	5	10	8	1	1	3	1	1	0	2	1	4	1	3	1	2	3	0	1	2	6	2	rs148103215		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:37117924G>A	ENST00000292928.2	+	5	1238	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Silent_p.T374T|ZNF382_ENST00000435416.1_Silent_p.T374T|ZNF382_ENST00000423582.1_Silent_p.T326T	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	375	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAACACATACGGGGGAGAAAG	0.458																																																	0								G		0,4406		0,0,2203	82	85	84		1125	-0.6	1	19	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF382	NM_032825.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		375/551	37117924	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"Zinc fingers, C2H2-type", "-"	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1125G>A	19.37:g.37117924G>A			A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T375	ENST00000292928.2	37	c.1125	CCDS33004.1	19																																																																																			ZNF382	-	pfscan_Znf_C2H2	ENSG00000161298		0.458	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	-	0	32	0	G	NM_032825		37117924	1	tier1	rs148103215	no_errors	ENST00000292928	ensembl	human	known	74_37	silent	57.89	8	11	SNP	0.995	A	A	37117924	G	A	37117924	2	1	166	1	0	0	0	0	0	0	0	1	17921	1103	39	1		1	ZNF382	19	37117924	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	1285536	37117924	22011059	211	41979											
ZNF585B	92285	genome.wustl.edu	37	chr19	37677281	37677281	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgagtgaaggctctcccacaGtcactgcattcataaggttt	10	12	9	10	0	3	2	2	2	1	0	4	2	3	2	1	2	1	3	1	2	2	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:37677281G>T	ENST00000532828.2	-	5	1409	c.1158C>A	c.(1156-1158)gaC>gaA	p.D386E	ZNF585B_ENST00000312908.5_De_novo_Start_OutOfFrame|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.D331E|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	386					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)			CTCTCCCACAGTCACTGCATT	0.433																																					Melanoma(93;882 1454 18863 28917 48427)												0													111	104	106					19																	37677281		2203	4300	6503	SO:0001583	missense	0			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.1158C>A	19.37:g.37677281G>T	ENSP00000433773:p.Asp386Glu		Q8IZD3|Q96JW6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D386E	ENST00000532828.2	37	c.1158	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.150572	0.00328	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.38240	1.15;3.2	2.89	-5.78	0.02362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.193393	0.25386	N	0.031058	T	0.06416	0.0165	N	0.00783	-1.19	0.58432	D	0.999999	B;B	0.20261	0.026;0.043	B;B	0.16289	0.01;0.015	T	0.36359	-0.9751	10	0.02654	T	1	.	5.2875	0.15710	0.1913:0.0:0.5029:0.3059	.	331;386	E9PQH3;Q52M93	.;Z585B_HUMAN	E	331;386	ENSP00000436774:D331E;ENSP00000433773:D386E	ENSP00000436774:D331E	D	-	3	2	ZNF585B	42369121	0.000000	0.05858	0.161000	0.22692	0.695000	0.40330	-5.642000	0.00107	-0.955000	0.03636	-0.391000	0.06502	GAC	ZNF585B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000245680		0.433	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2		0	70	0	G	NM_152279		37677281	-1			no_errors	ENST00000532828	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.001	T	T	37677281	G	T	37677281	3	4	166	1	0	0	0	0	1	0	0	0	18066	1020	36	3	1155	3	ZNF585B	19	37677281	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	559357	37677281	21451702	212	41980											
ZNF527	84503	genome.wustl.edu	37	chr19	37879574	37879574	+	Missense_Mutation	SNP	A	A	T	1	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	ccaaaattcagtcataattgAatataaaagactccatgctg	17	11	5	8	0	2	2	2	1	0	1	3	2	3	2	2	0	1	1	2	0	7	5	rs367723730		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:37879574A>T	ENST00000436120.2	+	5	730	c.623A>T	c.(622-624)gAa>gTa	p.E208V	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	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)			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)			GTCATAATTGAATATAAAAGA	0.318																																																	0													50	49	49					19																	37879574		1807	4061	5868	SO:0001583	missense	0			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.623A>T	19.37:g.37879574A>T	ENSP00000390179:p.Glu208Val		B4DVL5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E208V	ENST00000436120.2	37	c.623	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574597	0.45902	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.15	0.776	0.18532	.	.	.	.	.	T	0.09024	0.0223	N	0.12182	0.205	0.09310	N	1	P;P	0.41848	0.48;0.763	B;B	0.33620	0.045;0.167	T	0.12656	-1.0539	8	0.22706	T	0.39	.	1.226	0.01933	0.5111:0.1517:0.1894:0.1479	.	208;176	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	V	208;176;156	.	ENSP00000325231:E176V	E	+	2	0	ZNF527	42571414	0.000000	0.05858	0.003000	0.11579	0.944000	0.59088	-2.456000	0.01002	0.655000	0.30866	0.460000	0.39030	GAA	ZNF527	-	NULL	ENSG00000189164		0.318	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1		0	38	0	A	NM_032453		37879574	1			no_errors	ENST00000436120	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	T	T	37879574	A	T	37879574	3	4	166	1	0	0	0	0	1	0	0	0	18016	246	9	5	637	5	ZNF527	19	37879574	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	202293	37879574	21249409	213	41981											
ZNF226	7769	genome.wustl.edu	37	chr19	44680327	44680327	+	Silent	SNP	A	A	C	1	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	catcagaaagtacatgtgggAgaaaaacttaagtgtgatga	17	9	11	4	0	1	4	1	2	0	2	1	5	1	4	0	1	2	1	0	1	5	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:44680327A>C	ENST00000590089.1	+	7	1279	c.912A>C	c.(910-912)ggA>ggC	p.G304G	ZNF226_ENST00000337433.5_Silent_p.G304G|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.G304G			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				TACATGTGGGAGAAAAACTTA	0.433																																					Pancreas(115;581 1665 13228 19278 50070)												0													60	62	62					19																	44680327		2082	4220	6302	SO:0001819	synonymous_variant	0			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.912A>C	19.37:g.44680327A>C			Q8WWE6|Q96TE6|Q9NS44	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G304	ENST00000590089.1	37	c.912	CCDS46102.1	19																																																																																			ZNF226	-	pfscan_Znf_C2H2	ENSG00000167380		0.433	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF226	HGNC	protein_coding	OTTHUMT00000460712.1	-	0	51	0	A			44680327	1	tier1	-	no_errors	ENST00000337433	ensembl	human	known	74_37	silent	19.35	25	6	SNP	1.000	C	C	44680327	A	C	44680327	2	2	166	1	0	0	0	0	0	0	0	1	17828	291	11	4		4	ZNF226	19	44680327	Silent	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09	6800753	44680327	14448656	214	41982											
NKPD1	284353	genome.wustl.edu	37	chr19	45656613	45656613	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcgcgtggccgcccagtGacaagtagagcagccccaca	10	3	12	16	3	0	2	0	1	0	1	0	2	0	2	5	1	3	2	5	1	2	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:45656613G>C	ENST00000438936.2	-	3	627	c.416C>G	c.(415-417)tCa>tGa	p.S139*	AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000317951.4_Nonsense_Mutation_p.S361*|NKPD1_ENST00000589776.1_Nonsense_Mutation_p.S139*|NKPD1_ENST00000429338.1_Nonsense_Mutation_p.S139*			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	139	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GCCGCCCAGTGACAAGTAGAG	0.726																																																	0													4	5	5					19																	45656613		1932	3986	5918	SO:0001587	stop_gained	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.416C>G	19.37:g.45656613G>C	ENSP00000401739:p.Ser139*		B7ZLG6|D6RH15|Q8N2A2	Nonsense_Mutation	SNP	pfam_KAP_NTPase	p.S361*	ENST00000438936.2	37	c.1082		19	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381537	0.61845	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	.	.	.	5.09	5.09	0.68999	.	0.228736	0.38111	N	0.001802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-15.9155	13.9701	0.64235	0.0:0.0:1.0:0.0	.	.	.	.	X	361;139;139	.	ENSP00000321976:S361X	S	-	2	0	NKPD1	50348453	0.997000	0.39634	0.921000	0.36526	0.127000	0.20565	2.712000	0.47186	2.359000	0.80004	0.491000	0.48974	TCA	NKPD1	-	pfam_KAP_NTPase	ENSG00000179846		0.726	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	-	0	9	0	G	NM_198478		45656613	-1	tier1	-	no_errors	ENST00000317951	ensembl	human	known	74_37	nonsense	33.33	8	4	SNP	0.907	C	C	45656613	G	C	45656613	4	2	166	1	0	0	0	0	0	1	0	0	10485	1294	45	5	1420	5	NKPD1	19	45656613	Nonsense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	976286	45656613	13472370	215	41983											
BAX	581	genome.wustl.edu	37	chr19	49464862	49464862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggcgggagtgctcaccgCctcactcaccatctggaaga	8	8	12	13	2	4	1	3	0	1	1	4	3	4	3	3	3	1	1	3	3	1	0			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:49464862C>T	ENST00000345358.7	+	6	600	c.548C>T	c.(547-549)gCc>gTc	p.A183V	CTD-2639E6.9_ENST00000599784.1_lincRNA|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000293288.8_3'UTR|BAX_ENST00000415969.2_Missense_Mutation_p.A170V|BAX_ENST00000539787.1_3'UTR|BAX_ENST00000354470.3_Missense_Mutation_p.A134V	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	183					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)		GTGCTCACCGCCTCACTCACC	0.572																																																	0													43	27	32					19																	49464862		2203	4300	6503	SO:0001583	missense	0				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.548C>T	19.37:g.49464862C>T	ENSP00000263262:p.Ala183Val		A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Missense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam	p.A183V	ENST00000345358.7	37	c.548	CCDS12742.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.460|8.460	0.855174|0.855174	0.17106|0.17106	.|.	.|.	ENSG00000087088|ENSG00000087088	ENST00000345358;ENST00000415969;ENST00000354470|ENST00000506183	T;T;T|.	0.34275|.	1.37;2.62;1.37|.	3.06|3.06	3.06|3.06	0.35304|0.35304	.|.	.|.	.|.	.|.	.|.	T|T	0.33411|0.33411	0.0862|0.0862	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.18310|.	0.006;0.02;0.027|.	B;B;B|.	0.14578|.	0.011;0.002;0.003|.	T|T	0.09357|0.09357	-1.0678|-1.0678	9|5	0.34782|.	T|.	0.22|.	.|.	9.8494|9.8494	0.41048|0.41048	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	134;183;170|.	Q07812-4;Q07812;Q07812-8|.	.;BAX_HUMAN;.|.	V|S	183;170;134|117	ENSP00000263262:A183V;ENSP00000389971:A170V;ENSP00000346461:A134V|.	ENSP00000263262:A183V|.	A|P	+|+	2|1	0|0	BAX|BAX	54156674|54156674	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.505000|0.505000	0.33919|0.33919	5.205000|5.205000	0.65186|0.65186	2.002000|2.002000	0.58637|0.58637	0.563000|0.563000	0.77884|0.77884	GCC|CCT	BAX	-	NULL	ENSG00000087088		0.572	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1		0	18	0	C	NM_138763		49464862	1			no_errors	ENST00000345358	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.999	T	T	49464862	C	T	49464862	3	4	166	1	0	0	0	0	1	0	0	0	1329	739	26	3	753	3	BAX	19	49464862	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	3808249	49464862	9664121	216	41984											
PRR12	57479	genome.wustl.edu	37	chr19	50101025	50101025	+	Frame_Shift_Del	DEL	C	C	-																															gggacatcgacttctgcccaCccaacccaggacccgatggc																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:50101025delC	ENST00000418929.2	+	4	3445	c.3433delC	c.(3433-3435)cccfs	p.P1145fs		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)		CTTCTGCCCACCCAACCCAGG	0.741																																																	0													10	13	12					19																	50101025		1971	4119	6090	SO:0001589	frameshift_variant	0			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.3433delC	19.37:g.50101025delC	ENSP00000394510:p.Pro1145fs		E9PB06|Q8N4J6	Frame_Shift_Del	DEL	NULL	p.N1146fs	ENST00000418929.2	37	c.3433	CCDS46143.1	19																																																																																			PRR12	-	NULL	ENSG00000126464		0.741	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1		0	14	0	C	NM_020719		50101025	1	tier1		no_errors	ENST00000418929	ensembl	human	novel	74_37	frame_shift_del	33.33	4	2	DEL	0.982	-	-	50101025	C	-	50101025	7	5	166	1	0	1	0	1	0	0	0	0	12626	507	18	0	3447	0	PRR12	19	50101025	Frame_Shift_Del	DEL	C	TCGA-VR-A8EU-01A-11D-A36J-09	636163	50101025	9027958	217	41985											
MYBPC2	4606	genome.wustl.edu	37	chr19	50939968	50939968	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	caaggacacctgtgacagctGtggcttcaacatcgatgtgg	10	9	12	10	1	1	1	1	1	0	0	2	3	1	2	1	3	2	2	1	3	2	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:50939968G>T	ENST00000357701.5	+	5	491	c.440G>T	c.(439-441)tGt>tTt	p.C147F		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	147	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGTGACAGCTGTGGCTTCAAC	0.587																																																	0													96	95	95					19																	50939968		2053	4192	6245	SO:0001583	missense	0				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.440G>T	19.37:g.50939968G>T	ENSP00000350332:p.Cys147Phe		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C147F	ENST00000357701.5	37	c.440	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	.	14.09	2.433135	0.43224	.	.	ENSG00000086967	ENST00000357701	T	0.67345	-0.26	3.24	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.204750	0.21639	U	0.071375	T	0.78039	0.4221	M	0.79011	2.435	0.50632	D	0.999887	D	0.54397	0.966	P	0.59948	0.866	T	0.78420	-0.2211	10	0.35671	T	0.21	.	14.4405	0.67314	0.0:0.0:1.0:0.0	.	147	Q14324	MYPC2_HUMAN	F	147	ENSP00000350332:C147F	ENSP00000350332:C147F	C	+	2	0	MYBPC2	55631780	1.000000	0.71417	0.890000	0.34922	0.535000	0.34838	6.641000	0.74324	2.142000	0.66516	0.450000	0.29827	TGT	MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000086967		0.587	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	-	0	81	0	G	NM_004533		50939968	1	tier1	-	no_errors	ENST00000357701	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	T	T	50939968	G	T	50939968	3	4	166	1	0	0	0	0	1	0	0	0	10050	1377	48	3	458	3	MYBPC2	19	50939968	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	838943	50939968	8189015	218	41986											
ZNF616	90317	genome.wustl.edu	37	chr19	52619961	52619961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttcagtttgaactttCtgcagttcagccagacgtga	8	13	8	12	1	3	3	2	2	1	1	4	3	4	3	2	0	3	3	2	0	1	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:52619961C>A	ENST00000600228.1	-	4	717	c.456G>T	c.(454-456)caG>caT	p.Q152H	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q152H(1)		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)		TTTGAACTTTCTGCAGTTCAG	0.368																																																	1	Substitution - Missense(1)	breast(1)											162	149	154					19																	52619961		2202	4300	6502	SO:0001583	missense	0			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.456G>T	19.37:g.52619961C>A	ENSP00000471000:p.Gln152His		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q152H	ENST00000600228.1	37	c.456	CCDS33090.1	19	.	.	.	.	.	.	.	.	.	.	C	9.997	1.232421	0.22626	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.57	0.169	0.15017	.	.	.	.	.	T	0.36386	0.0965	M	0.62209	1.925	0.09310	N	1	P	0.49090	0.919	P	0.46479	0.518	T	0.22208	-1.0223	8	0.33940	T	0.23	.	7.1354	0.25525	0.0:0.7185:0.2814:0.0	.	152	Q08AN1	ZN616_HUMAN	H	152	.	ENSP00000328722:Q152H	Q	-	3	2	ZNF616	57311773	0.000000	0.05858	0.005000	0.12908	0.037000	0.13140	-0.941000	0.03925	0.840000	0.34995	0.305000	0.20034	CAG	ZNF616	-	NULL	ENSG00000204611		0.368	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1		0	78	0	C	XM_030892		52619961	-1			no_errors	ENST00000600228	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.171	A	A	52619961	C	A	52619961	3	1	166	1	0	0	0	0	1	0	0	0	18089	912	32	3	1893	3	ZNF616	19	52619961	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	1679993	52619961	6509022	219	41987											
ZNF460	10794	genome.wustl.edu	37	chr19	57803332	57803332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatccacactggagagaagCcctatgaatgcgtggagtgc	11	7	13	10	1	0	2	0	1	0	1	1	5	1	4	2	2	3	1	2	2	3	1			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:57803332C>T	ENST00000360338.3	+	3	1745	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	ZNF460_ENST00000537645.1_Missense_Mutation_p.P434S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGAGAGAAGCCCTATGAATG	0.532																																																	0													126	111	116					19																	57803332		2203	4300	6503	SO:0001583	missense	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1423C>T	19.37:g.57803332C>T	ENSP00000353491:p.Pro475Ser		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P475S	ENST00000360338.3	37	c.1423	CCDS12949.1	19	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966660	0.53507	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.28454	1.61;1.61	1.68	1.68	0.24146	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50514	0.1620	M	0.70108	2.13	0.29896	N	0.824834	D	0.76494	0.999	D	0.68765	0.96	T	0.50065	-0.8871	9	0.87932	D	0	.	10.9815	0.47497	0.0:1.0:0.0:0.0	.	475	Q14592	ZN460_HUMAN	S	434;475	ENSP00000446167:P434S;ENSP00000353491:P475S	ENSP00000353491:P475S	P	+	1	0	ZNF460	62495144	0.007000	0.16637	0.150000	0.22450	0.593000	0.36681	1.504000	0.35726	1.227000	0.43598	0.650000	0.86243	CCC	ZNF460	-	pfscan_Znf_C2H2	ENSG00000197714		0.532	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	HGNC	protein_coding	OTTHUMT00000465727.1		0	53	0	C	NM_006635		57803332	1			no_errors	ENST00000360338	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.971	T	T	57803332	C	T	57803332	3	4	166	1	0	0	0	0	1	0	0	0	17972	739	26	3	1433	3	ZNF460	19	57803332	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	5183371	57803332	1325651	220	41988											
ZIK1	284307	genome.wustl.edu	37	chr19	58099931	58099931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgacctttgaggacatcGccatttacttctcacaggac	9	12	9	11	1	1	2	1	2	1	0	3	4	1	4	2	2	1	0	2	2	1	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:58099931G>A	ENST00000597850.1	+	3	312	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	ZIK1_ENST00000598726.1_3'UTR|ZIK1_ENST00000307468.4_Intron|ZIK1_ENST00000599456.1_5'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.A20T	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	33	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.A33T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		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;0.0257)		TGAGGACATCGCCATTTACTT	0.522																																																	1	Substitution - Missense(1)	endometrium(1)											271	211	231					19																	58099931		2203	4300	6503	SO:0001583	missense	0			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"Zinc fingers, C2H2-type", "-"	33104	protein-coding gene	gene with protein product			"zinc finger protein interacting with K protein 1 homolog (mouse)"				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.97G>A	19.37:g.58099931G>A	ENSP00000472867:p.Ala33Thr		O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A33T	ENST00000597850.1	37	c.97	CCDS33135.1	19	.	.	.	.	.	.	.	.	.	.	g	16.93	3.256760	0.59321	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.03065	4.06	3.3	2.25	0.28309	Krueppel-associated box (4);	.	.	.	.	T	0.11965	0.0291	M	0.64567	1.98	0.27912	N	0.938562	D;D	0.89917	0.968;1.0	P;D	0.91635	0.447;0.999	T	0.08680	-1.0710	9	0.56958	D	0.05	.	5.188	0.15195	0.1144:0.0:0.683:0.2026	.	20;33	F5H435;Q3SY52	.;ZIK1_HUMAN	T	20;14;33	ENSP00000438487:A20T	ENSP00000303820:A33T	A	+	1	0	ZIK1	62791743	0.947000	0.32204	0.578000	0.28575	0.972000	0.66771	0.677000	0.25262	0.713000	0.32060	0.442000	0.29010	GCC	ZIK1	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000171649		0.522	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZIK1	HGNC	protein_coding	OTTHUMT00000466791.1	-	0	106	0	G	NM_001010879		58099931	1	tier1	-	no_errors	ENST00000597850	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.985	A	A	58099931	G	A	58099931	3	1	166	1	0	0	0	0	1	0	0	0	17731	1087	38	1	107	1	ZIK1	19	58099931	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	296599	58099931	1029052	221	41989											
SNPH	9751	genome.wustl.edu	37	chr20	1277840	1277842	+	In_Frame_Del	DEL	CAG	CAG	-																															gcctacggcacctcttcgctCagcagcagcagcaattctgg																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:1277840_1277842delCAG	ENST00000381873.3	+	4	338_340	c.102_104delCAG	c.(100-105)ctcagc>ctc	p.S38del	SNPH_ENST00000381867.1_In_Frame_Del_p.S82del	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	38	Poly-Ser.				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						CCTCTTCGCTCAGCAGCAGCAGC	0.64																																																	0																																										SO:0001651	inframe_deletion	0				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.102_104delCAG	20.37:g.1277849_1277851delCAG	ENSP00000371297:p.Ser38del		Q8IYI3	In_Frame_Del	DEL	NULL	p.S82in_frame_del	ENST00000381873.3	37	c.234_236	CCDS13012.1	20																																																																																			SNPH	-	NULL	ENSG00000101298		0.64	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNPH	HGNC	protein_coding	OTTHUMT00000145240.2		0	67	0	CAG	NM_014723		1277842	1	tier1		no_errors	ENST00000381867	ensembl	human	known	74_37	in_frame_del	7.14	26	2	DEL	1.000:1.000:1.000	-	-	1277842	CAG	-	1277840	7	5	166	1	0	1	0	1	0	0	0	0	14895	813	29	0	108	0	SNPH	20	1277840	In_Frame_Del	DEL	CAG	TCGA-VR-A8EU-01A-11D-A36J-09		1277840	61747680	222	41990											
PLCB1	23236	genome.wustl.edu	37	chr20	8770221	8770221	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggtgcagtatatcaagaGggtatgtgggctcatcacgc	10	10	14	7	1	3	1	3	0	0	1	3	1	3	1	0	3	1	4	0	3	4	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:8770221G>T	ENST00000338037.6	+	30	3362	c.3335G>T	c.(3334-3336)aGg>aTg	p.R1112M	PLCB1_ENST00000378641.3_Splice_Site_p.R1112M|PLCB1_ENST00000378637.2_Splice_Site_p.R1112M	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1112					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						TATATCAAGAGGGTATGTGGG	0.433																																																	0													271	231	245					20																	8770221		2203	4300	6503	SO:0001630	splice_region_variant	0			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.3336+1G>T	20.37:g.8770221G>T			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.R1112M	ENST00000338037.6	37	c.3335	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	30	5.054882	0.93793	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.52983	0.64;0.64;0.64	5.87	5.87	0.94306	PLC-beta, C-terminal (1);	0.144804	0.64402	D	0.000011	T	0.68659	0.3025	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.982	T	0.68281	-0.5450	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1112;1112	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	M	1112;1112;1112;1032;1032	ENSP00000367908:R1112M;ENSP00000338185:R1112M;ENSP00000367904:R1112M	ENSP00000338185:R1112M	R	+	2	0	PLCB1	8718221	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.254000	0.95512	2.941000	0.99782	0.655000	0.94253	AGG	PLCB1	-	pirsf_PLC-beta,pfam_PLC-beta_C	ENSG00000182621		0.433	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	-	0	53	0	G		Missense_Mutation	8770221	1	tier1	-	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	8770221	G	T	8770221	5	4	166	1	0	0	0	0	0	0	1	0	12066	1014	35	3	3453	3	PLCB1	20	8770221	Splice_Site	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	7492381	8770221	54255299	223	41991											
C20orf7	79133	genome.wustl.edu	37	chr20	13765855	13765855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagaaccctgaatattttCgaccgggatttgaaaaggaa	14	9	9	9	2	0	3	0	2	0	1	1	6	0	5	3	2	1	0	3	2	6	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:13765855C>T	ENST00000378106.5	+	1	260	c.141C>T	c.(139-141)ttC>ttT	p.F47F	NDUFAF5_ENST00000463598.1_Silent_p.F47F|NDUFAF5_ENST00000475968.1_3'UTR|ESF1_ENST00000202816.1_5'Flank	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	47					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										TGAATATTTTCGACCGGGATT	0.617																																																	0													22	26	25					20																	13765855		2203	4300	6503	SO:0001819	synonymous_variant	0				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.141C>T	20.37:g.13765855C>T			A8K166|Q6GPH3|Q9H6F4	Silent	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Put_SAM_MeTrfase	p.F47	ENST00000378106.5	37	c.141	CCDS13118.1	20																																																																																			NDUFAF5	-	NULL	ENSG00000101247		0.617	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF5	HGNC	protein_coding	OTTHUMT00000078057.2	-	0	154	0	C	NM_001039375		13765855	1	tier1	-	no_errors	ENST00000378106	ensembl	human	known	74_37	silent	7.29	89	7	SNP	1.000	T	T	13765855	C	T	13765855	2	4	166	1	0	0	0	0	0	0	0	1	2122	883	31	1		1	C20orf7	20	13765855	Silent	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	4995634	13765855	49259665	224	41992											
CTNNBL1	56259	genome.wustl.edu	37	chr20	36322545	36322545	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacgtgggcgaacttctGagctaccaggtatgaggggc	9	8	16	8	2	1	2	0	2	1	0	1	4	1	3	1	5	3	2	1	5	3	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:36322545G>T	ENST00000361383.6	+	1	138	c.21G>T	c.(19-21)ctG>ctT	p.L7L	CTNNBL1_ENST00000405275.2_5'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	7					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)				GCGAACTTCTGAGCTACCAGG	0.667																																					Ovarian(184;582 2038 3273 4106 42608)												0													88	78	81					20																	36322545		2203	4299	6502	SO:0001819	synonymous_variant	0			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.21G>T	20.37:g.36322545G>T			B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Silent	SNP	pfam_CTNNBL1_N,superfamily_ARM-type_fold	p.L7	ENST00000361383.6	37	c.21	CCDS13298.1	20																																																																																			CTNNBL1	-	NULL	ENSG00000132792		0.667	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	-	0	171	0	G	NM_030877		36322545	1	tier1	-	no_errors	ENST00000361383	ensembl	human	putative	74_37	silent	5.26	72	4	SNP	1.000	T	T	36322545	G	T	36322545	2	4	166	1	0	0	0	0	0	0	0	1	4027	1277	45	3		3	CTNNBL1	20	36322545	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	22556690	36322545	26702975	225	41993											
ELMO2	63916	genome.wustl.edu	37	chr20	45014770	45014770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttttactcacacctggaGgtgtgagatgagctgtccca	8	13	11	9	0	1	2	1	2	0	1	2	4	2	3	2	2	2	2	2	2	1	3	rs112131818	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:45014770G>A	ENST00000290246.6	-	9	864	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	ELMO2_ENST00000372176.1_Missense_Mutation_p.L136F|ELMO2_ENST00000439931.2_Missense_Mutation_p.L224F|ELMO2_ENST00000396391.1_Missense_Mutation_p.L224F|ELMO2_ENST00000445496.2_Missense_Mutation_p.L41F|ELMO2_ENST00000352077.2_Missense_Mutation_p.L222F|ELMO2_ENST00000488853.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	224					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CACACCTGGAGGTGTGAGATG	0.493													G|||	45	0.00898562	0.0318	0	5008	,	,		20924	0.001		0	False		,,,				2504	0.002																0													115	109	111					20																	45014770		2203	4300	6503	SO:0001583	missense	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.670C>T	20.37:g.45014770G>A	ENSP00000290246:p.Leu224Phe		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.L224F	ENST00000290246.6	37	c.670	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291388	0.80914	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;0.92;-0.1;0.52;-0.1	4.85	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	L	0.49571	1.57	0.80722	D	1	P;P;P	0.50156	0.843;0.932;0.91	P;P;P	0.53912	0.737;0.708;0.737	T	0.70396	-0.4883	10	0.49607	T	0.09	-21.0836	17.1413	0.86754	0.0:0.0:1.0:0.0	.	224;224;224	B4DRL5;E9PBG2;Q96JJ3	.;.;ELMO2_HUMAN	F	224;136;224;224;41;222;12;224	ENSP00000290246:L224F;ENSP00000361249:L136F;ENSP00000379673:L224F;ENSP00000396519:L224F;ENSP00000409920:L41F;ENSP00000326172:L222F;ENSP00000388962:L12F;ENSP00000416181:L224F	ENSP00000290246:L224F	L	-	1	0	ELMO2	44448177	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.129000	0.71657	2.526000	0.85167	0.591000	0.81541	CTC	ELMO2	-	pfam_DUF3361,superfamily_ARM-type_fold	ENSG00000062598		0.493	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1		0	28	0	G	NM_022086		45014770	-1			no_errors	ENST00000439931	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	A	A	45014770	G	A	45014770	3	1	166	1	0	0	0	0	1	0	0	0	5082	1000	35	3	1548	3	ELMO2	20	45014770	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	8692225	45014770	18010750	226	41994											
ELMO2	63916	genome.wustl.edu	37	chr20	45014791	45014791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtgtgagatgagctgtcccaCggtgatttcctcggctatct	6	13	12	10	2	1	3	0	3	1	1	4	4	3	3	2	2	1	2	2	2	1	2	rs140516654	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:45014791C>T	ENST00000290246.6	-	9	843	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	ELMO2_ENST00000372176.1_Missense_Mutation_p.V129M|ELMO2_ENST00000439931.2_Missense_Mutation_p.V217M|ELMO2_ENST00000396391.1_Missense_Mutation_p.V217M|ELMO2_ENST00000445496.2_Missense_Mutation_p.V34M|ELMO2_ENST00000352077.2_Missense_Mutation_p.V215M|ELMO2_ENST00000488853.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	217					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGCTGTCCCACGGTGATTTCC	0.507													C|||	9	0.00179712	0.0061	0	5008	,	,		20517	0		0	False		,,,				2504	0.001																0													129	120	123					20																	45014791		2203	4300	6503	SO:0001583	missense	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.649G>A	20.37:g.45014791C>T	ENSP00000290246:p.Val217Met		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.V217M	ENST00000290246.6	37	c.649	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932303	0.92389	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;1.44;0.51;1.42;0.51	4.85	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	L	0.56769	1.78	0.80722	D	1	D;P;P	0.54772	0.968;0.46;0.769	P;B;B	0.51324	0.666;0.108;0.148	T	0.66333	-0.5950	10	0.72032	D	0.01	-32.7685	17.1413	0.86754	0.0:1.0:0.0:0.0	.	217;217;217	B4DRL5;E9PBG2;Q96JJ3	.;.;ELMO2_HUMAN	M	217;129;217;217;34;215;5;217	ENSP00000290246:V217M;ENSP00000361249:V129M;ENSP00000379673:V217M;ENSP00000396519:V217M;ENSP00000409920:V34M;ENSP00000326172:V215M;ENSP00000388962:V5M;ENSP00000416181:V217M	ENSP00000290246:V217M	V	-	1	0	ELMO2	44448198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.569000	0.67391	2.526000	0.85167	0.591000	0.81541	GTG	ELMO2	-	pfam_DUF3361,superfamily_ARM-type_fold	ENSG00000062598		0.507	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1		0	29	0	C	NM_022086		45014791	-1			no_errors	ENST00000439931	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	T	T	45014791	C	T	45014791	3	4	166	1	0	0	0	0	1	0	0	0	5082	536	19	1	1569	1	ELMO2	20	45014791	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	21	45014791	18010729	227	41995											
SYCP2	10388	genome.wustl.edu	37	chr20	58496393	58496393	+	Frame_Shift_Del	DEL	A	A	-																															taaggttgtccaccttgtggAaaaactgtttgctgcattta																										TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:58496393delA	ENST00000357552.3	-	4	365	c.140delT	c.(139-141)ttcfs	p.F47fs	SYCP2_ENST00000476314.1_5'UTR|SYCP2_ENST00000371001.2_Frame_Shift_Del_p.F47fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	47					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)			CACCTTGTGGAAAAACTGTTT	0.303																																																	0													59	55	56					20																	58496393		2200	4293	6493	SO:0001589	frameshift_variant	0			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.140delT	20.37:g.58496393delA	ENSP00000350162:p.Phe47fs		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	NULL	p.F47fs	ENST00000357552.3	37	c.140	CCDS13482.1	20																																																																																			SYCP2	-	NULL	ENSG00000196074		0.303	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3		0	87	0	A	NM_014258		58496393	-1	tier1		no_errors	ENST00000357552	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.988	-	-	58496393	A	-	58496393	7	5	166	1	0	1	0	1	0	0	0	0	15479	246	9	0	4620	0	SYCP2	20	58496393	Frame_Shift_Del	DEL	A	TCGA-VR-A8EU-01A-11D-A36J-09	13481602	58496393	4529127	228	41996											
OR11H1	81061	genome.wustl.edu	37	chr22	16449517	16449517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaaggaagttgaccaaCatcttgggaactgtagaaga	15	9	11	6	0	2	4	0	2	2	2	2	6	2	6	1	2	2	2	1	2	6	3	rs201085735		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr22:16449517C>T	ENST00000252835.4	-	1	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	96						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)		AGTTGACCAACATCTTGGGAA	0.408																																																	0																																										SO:0001583	missense	0			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.288G>A	22.37:g.16449517C>T	ENSP00000252835:p.Met96Ile		Q6IEX0|Q96R32	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M96I	ENST00000252835.4	37	c.288	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	c	12.90	2.077068	0.36662	.	.	ENSG00000130538	ENST00000252835	T	0.05513	3.43	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.289165	0.23960	N	0.042866	T	0.13372	0.0324	M	0.81682	2.555	0.21915	N	0.999477	P	0.51537	0.946	P	0.47528	0.549	T	0.06789	-1.0807	10	0.56958	D	0.05	.	10.5732	0.45212	0.0:1.0:0.0:0.0	.	96	Q8NG94	O11H1_HUMAN	I	96	ENSP00000252835:M96I	ENSP00000252835:M96I	M	-	3	0	OR11H1	14829517	0.003000	0.15002	0.999000	0.59377	0.870000	0.49936	-0.153000	0.10144	1.175000	0.42826	0.368000	0.22195	ATG	OR11H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000130538		0.408	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	HGNC	protein_coding	OTTHUMT00000074923.2	-	0	66	0	C	NM_001005239		16449517	-1	tier1	rs201085735	no_errors	ENST00000252835	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.922	T	T	16449517	C	T	16449517	3	4	166	1	0	0	0	0	1	0	0	0	10965	478	17	3	694	3	OR11H1	22	16449517	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09		16449517	34855049	229	41997											
MYO18B	84700	genome.wustl.edu	37	chr22	26164791	26164791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaatgtctctaaggacgtagGgagtgaagggaagcacgtaa	14	7	15	5	2	1	1	0	1	1	0	2	5	1	4	0	3	1	3	0	3	6	3			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr22:26164791G>T	ENST00000407587.2	+	4	1077	c.908G>T	c.(907-909)gGg>gTg	p.G303V	MYO18B_ENST00000335473.7_Missense_Mutation_p.G303V|MYO18B_ENST00000536101.1_Missense_Mutation_p.G303V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	303						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						AAGGACGTAGGGAGTGAAGGG	0.587																																																	0													25	28	27					22																	26164791		1991	4154	6145	SO:0001583	missense	0			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.908G>T	22.37:g.26164791G>T	ENSP00000386096:p.Gly303Val		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G303V	ENST00000407587.2	37	c.908		22	.	.	.	.	.	.	.	.	.	.	g	14.45	2.539359	0.45176	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89681	-2.53;-2.53;-2.55	4.51	-1.87	0.07737	.	0.467488	0.16044	N	0.232282	T	0.76863	0.4047	L	0.29908	0.895	0.19300	N	0.999972	B;B;B	0.19331	0.02;0.035;0.035	B;B;B	0.16289	0.007;0.015;0.015	T	0.65344	-0.6191	10	0.87932	D	0	.	2.1002	0.03678	0.1279:0.1434:0.362:0.3666	.	303;303;303	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	V	303	ENSP00000441229:G303V;ENSP00000334563:G303V;ENSP00000386096:G303V	ENSP00000334563:G303V	G	+	2	0	MYO18B	24494791	0.030000	0.19436	0.001000	0.08648	0.090000	0.18270	-0.004000	0.12878	0.083000	0.17047	0.306000	0.20318	GGG	MYO18B	-	NULL	ENSG00000133454		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	165	0	G	NM_032608		26164791	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	23.73	45	14	SNP	0.000	T	T	26164791	G	T	26164791	3	4	166	1	0	0	0	0	1	0	0	0	10104	1232	43	3	918	3	MYO18B	22	26164791	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	9715274	26164791	25139775	230	41998											
CYP2D6	1565	genome.wustl.edu	37	chr22	42523617	42523617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgccctatcacgtcgtcGatctcctgttggacacggcc	6	10	9	16	4	2	0	1	0	1	0	5	2	2	1	4	2	1	1	4	2	1	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr22:42523617G>A	ENST00000360608.5	-	7	1119	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.I335I|NDUFA6-AS1_ENST00000536447.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.I284I	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	335					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)	TCACGTCGTCGATCTCCTGTT	0.612																																																	0													75	58	64					22																	42523617		2201	4299	6500	SO:0001819	synonymous_variant	0			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.1005C>T	22.37:g.42523617G>A			Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.I335	ENST00000360608.5	37	c.1005	CCDS46721.1	22																																																																																			CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000100197		0.612	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1	-	0	59	0	G			42523617	-1	tier1	rs199980688	no_errors	ENST00000360608	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.982	A	A	42523617	G	A	42523617	2	1	166	1	0	0	0	0	0	0	0	1	4178	1048	37	1		1	CYP2D6	22	42523617	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	16358826	42523617	8780949	231	41999											
PLXNB2	23654	genome.wustl.edu	37	chr22	50728477	50728477	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagtgctcacgatgatgccGttgtcgtgtggcccattgcc	5	11	13	12	4	1	1	1	1	0	0	2	3	1	1	3	1	3	2	3	1	0	2	rs370273991		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr22:50728477G>A	ENST00000449103.1	-	3	677	c.537C>T	c.(535-537)aaC>aaT	p.N179N	PLXNB2_ENST00000359337.4_Silent_p.N179N			O15031	PLXB2_HUMAN	plexin B2	179	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)		CGATGATGCCGTTGTCGTGTG	0.627																																																	0								G		0,4382		0,0,2191	90	95	93		537	-0.7	1	22		93	3,8557	3.0+/-9.4	0,3,4277	no	coding-synonymous	PLXNB2	NM_012401.3		0,3,6468	AA,AG,GG		0.035,0.0,0.0232		179/1839	50728477	3,12939	2191	4280	6471	SO:0001819	synonymous_variant	0				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.537C>T	22.37:g.50728477G>A			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.N179	ENST00000449103.1	37	c.537	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000196576		0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	-	0	49	0	G	NM_012401		50728477	-1	tier1	-	no_errors	ENST00000359337	ensembl	human	known	74_37	silent	64.29	5	9	SNP	0.848	A	A	50728477	G	A	50728477	2	1	166	1	0	0	0	0	0	0	0	1	12163	1136	40	1		1	PLXNB2	22	50728477	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	8204860	50728477	576089	232	42000											
KDM6A	7403	genome.wustl.edu	37	chrX	44949998	44949998	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaattggcagtggaacggtAcgaatggaacaaattgcaaa	17	8	11	5	2	0	0	0	0	0	0	0	3	0	2	0	4	4	3	0	4	8	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrX:44949998A>T	ENST00000377967.4	+	26	3808	c.3767A>T	c.(3766-3768)tAc>tTc	p.Y1256F	KDM6A_ENST00000382899.4_Missense_Mutation_p.Y1263F|KDM6A_ENST00000536777.1_Missense_Mutation_p.Y1211F|KDM6A_ENST00000543216.1_Missense_Mutation_p.Y1177F	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1256	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						GTGGAACGGTACGAATGGAAC	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)											158	131	140					X																	44949998		2203	4300	6503	SO:0001583	missense	0			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.3767A>T	X.37:g.44949998A>T	ENSP00000367203:p.Tyr1256Phe		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y1263F	ENST00000377967.4	37	c.3788	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086222	0.76642	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.58	5.58	0.84498	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.81777	0.4894	M	0.61703	1.905	0.80722	D	1	D;D;P;P;D	0.69078	0.993;0.996;0.65;0.942;0.997	D;D;P;P;D	0.81914	0.956;0.98;0.519;0.656;0.995	T	0.82739	-0.0308	10	0.52906	T	0.07	-11.5031	14.8446	0.70251	1.0:0.0:0.0:0.0	.	895;1263;1211;1308;1256	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.;.;.;.;KDM6A_HUMAN	F	953;1256;1211;1263;1177	ENSP00000367203:Y1256F;ENSP00000437405:Y1211F;ENSP00000372355:Y1263F;ENSP00000443078:Y1177F	ENSP00000334340:Y953F	Y	+	2	0	KDM6A	44834942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.027000	0.76463	1.887000	0.54652	0.430000	0.28490	TAC	KDM6A	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000147050		0.373	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	-	0	55	0	A	NM_021140		44949998	1	tier1	-	no_errors	ENST00000382899	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	T	T	44949998	A	T	44949998	3	4	166	1	0	0	0	0	1	0	0	0	8164	391	14	5	3869	5	KDM6A	23	44949998	Missense_Mutation	SNP	A	TCGA-VR-A8EU-01A-11D-A36J-09		44949998	110320562	233	42001											
DACH2	117154	genome.wustl.edu	37	chrX	86069759	86069759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggaagccttggaatttGaatcaaagcgccgggagcaa	13	7	13	8	2	1	1	1	1	0	0	1	4	1	4	2	3	4	2	2	3	5	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrX:86069759G>A	ENST00000373125.4	+	10	1606	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	DACH2_ENST00000508860.1_Missense_Mutation_p.E369K|DACH2_ENST00000510272.1_Missense_Mutation_p.E317K|DACH2_ENST00000373131.1_Missense_Mutation_p.E523K	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	536					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						CTTGGAATTTGAATCAAAGCG	0.433																																																	0													62	57	59					X																	86069759		2203	4300	6503	SO:0001583	missense	0			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.1606G>A	X.37:g.86069759G>A	ENSP00000362217:p.Glu536Lys		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.E536K	ENST00000373125.4	37	c.1606	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887579	0.91814	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.88124	-2.3;-2.34	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000003	D	0.93132	0.7813	M	0.75615	2.305	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;D	0.91635	0.999;0.999;0.991;0.989	D	0.94175	0.7427	10	0.87932	D	0	.	17.002	0.86383	0.0:0.0:1.0:0.0	.	402;536;523;536	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	K	536;523;536;369;317;369;201	ENSP00000362223:E523K;ENSP00000362217:E536K	ENSP00000345134:E536K	E	+	1	0	DACH2	85956415	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.288000	0.96055	1.932000	0.55993	0.415000	0.27848	GAA	DACH2	-	NULL	ENSG00000126733		0.433	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	-	0	41	0	G	NM_053281		86069759	1	tier1	-	no_errors	ENST00000373125	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	86069759	G	A	86069759	3	1	166	1	0	0	0	0	1	0	0	0	4230	1291	45	3	1644	3	DACH2	23	86069759	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	41119761	86069759	69200801	234	42002											
ODZ1	10178	genome.wustl.edu	37	chrX	123870827	123870827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtctccaatggtatgttGctgttcaggacccagctgtt	6	14	11	10	0	2	0	1	0	1	0	3	1	2	1	2	3	2	6	2	3	2	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrX:123870827G>A	ENST00000371130.3	-	4	819	c.756C>T	c.(754-756)agC>agT	p.S252S	TENM1_ENST00000422452.2_Silent_p.S252S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	252	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										ATGGTATGTTGCTGTTCAGGA	0.498																																																	0													205	185	192					X																	123870827		2203	4300	6503	SO:0001819	synonymous_variant	0			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.756C>T	X.37:g.123870827G>A			B2RTR5|Q5JZ17	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S252	ENST00000371130.3	37	c.756	CCDS14609.1	X																																																																																			TENM1	-	pfam_Ten_N	ENSG00000009694		0.498	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0	27	0	G	NM_014253		123870827	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	silent	17.65	14	3	SNP	1.000	A	A	123870827	G	A	123870827	2	1	166	1	0	0	0	0	0	0	0	1	10873	1310	46	3		3	ODZ1	23	123870827	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	37801068	123870827	31399733	235	42003											
CCDC160	347475	genome.wustl.edu	37	chrX	133379619	133379619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcctaaaagaagaaatGaaatcatattatgaattaga	19	11	7	4	0	1	5	1	2	0	3	2	5	2	5	1	0	1	1	1	0	9	4			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrX:133379619G>T	ENST00000517294.1	+	3	1172	c.789G>T	c.(787-789)atG>atT	p.M263I	CCDC160_ENST00000370809.4_Missense_Mutation_p.M263I			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	263										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAGAAGAAATGAAATCATATT	0.373																																																	0													33	30	31					X																	133379619		1833	4065	5898	SO:0001583	missense	0			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.789G>T	X.37:g.133379619G>T	ENSP00000427951:p.Met263Ile			Missense_Mutation	SNP	NULL	p.M263I	ENST00000517294.1	37	c.789	CCDS48171.1	X	.	.	.	.	.	.	.	.	.	.	G	3.783	-0.045324	0.07452	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	D;D	0.90955	-2.76;-2.76	5.29	2.29	0.28610	.	0.200862	0.34959	N	0.003541	T	0.78984	0.4370	N	0.19112	0.55	0.25042	N	0.991191	B	0.16603	0.018	B	0.14578	0.011	T	0.65792	-0.6082	10	0.44086	T	0.13	-14.1595	2.2595	0.04063	0.1751:0.1503:0.5167:0.1578	.	263	A6NGH7	CC160_HUMAN	I	263	ENSP00000427951:M263I;ENSP00000359845:M263I	ENSP00000359845:M263I	M	+	3	0	CCDC160	133207285	1.000000	0.71417	0.915000	0.36163	0.025000	0.11179	1.540000	0.36115	0.509000	0.28195	0.513000	0.50165	ATG	CCDC160	-	NULL	ENSG00000203952		0.373	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	-	0	58	0	G	NM_001101357		133379619	1	tier1	-	no_errors	ENST00000370809	ensembl	human	known	74_37	missense	36.11	23	13	SNP	0.984	T	T	133379619	G	T	133379619	3	4	166	1	0	0	0	0	1	0	0	0	2799	1290	45	3	791	3	CCDC160	23	133379619	Missense_Mutation	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	9508792	133379619	21890941	236	42004											
AFF2	2334	genome.wustl.edu	37	chrX	148038118	148038118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagctgtggagaaaccagCccctaagggcaaacgtaagc	14	4	11	12	1	0	1	0	0	0	1	0	2	0	1	3	2	5	3	3	2	4	2			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrX:148038118C>T	ENST00000370460.2	+	11	3022	c.2543C>T	c.(2542-2544)gCc>gTc	p.A848V	AFF2_ENST00000342251.3_Missense_Mutation_p.A815V|AFF2_ENST00000286437.5_Missense_Mutation_p.A489V|AFF2_ENST00000370457.5_Missense_Mutation_p.A815V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	848					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)					GAGAAACCAGCCCCTAAGGGC	0.532																																																	0													67	66	66					X																	148038118		2203	4300	6503	SO:0001583	missense	0			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.2543C>T	X.37:g.148038118C>T	ENSP00000359489:p.Ala848Val		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.A848V	ENST00000370460.2	37	c.2543	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258780	0.23051	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.87	4.08	0.47627	.	0.314611	0.34245	N	0.004124	T	0.52549	0.1741	L	0.48642	1.525	0.09310	N	1	B;B;B;B;B;B	0.22851	0.076;0.062;0.062;0.062;0.062;0.076	B;B;B;B;B;B	0.20577	0.03;0.018;0.018;0.018;0.018;0.03	T	0.38265	-0.9669	10	0.28530	T	0.3	.	11.0642	0.47966	0.0:0.8031:0.1257:0.0712	.	489;813;815;809;838;848	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	848;815;815;489	ENSP00000359489:A848V;ENSP00000359486:A815V;ENSP00000345459:A815V;ENSP00000286437:A489V	ENSP00000286437:A489V	A	+	2	0	AFF2	147845818	0.473000	0.25878	0.687000	0.30102	0.317000	0.28152	2.997000	0.49457	0.595000	0.29777	0.600000	0.82982	GCC	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.532	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0	53	0	C	NM_002025		148038118	1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.122	T	T	148038118	C	T	148038118	3	4	166	1	0	0	0	0	1	0	0	0	357	739	26	3	2640	3	AFF2	23	148038118	Missense_Mutation	SNP	C	TCGA-VR-A8EU-01A-11D-A36J-09	14658499	148038118	7232442	237	42005											
ATP6AP1	537	genome.wustl.edu	37	chrX	153662700	153662700	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaaaacttctctgtggcGtacaaggaccagtgggagga	11	7	13	10	1	1	0	0	0	1	0	2	3	1	3	2	4	2	1	2	4	4	2	rs143207881		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrX:153662700G>A	ENST00000369762.2	+	7	892	c.831G>A	c.(829-831)gcG>gcA	p.A277A	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	277					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTCTGTGGCGTACAAGGACC	0.552																																																	0								G		0,3835		0,0,1632,571	151	129	136		831	-10.6	0	X	dbSNP_134	136	1,6727		0,1,2427,1872	no	coding-synonymous	ATP6AP1	NM_001183.4		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		277/471	153662700	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			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.831G>A	X.37:g.153662700G>A			A6ZKI4|Q8NBT4|Q9H0C7	Silent	SNP	pfam_BIG/ATPase_V1_suS1	p.A277	ENST00000369762.2	37	c.831	CCDS35451.1	X																																																																																			ATP6AP1	-	pfam_BIG/ATPase_V1_suS1	ENSG00000071553		0.552	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1	HGNC	protein_coding	OTTHUMT00000081639.4	-	0	25	0	G	NM_001183		153662700	1	tier1	rs143207881	no_errors	ENST00000369762	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.000	A	A	153662700	G	A	153662700	2	1	166	1	0	0	0	0	0	0	0	1	1166	1132	40	1		1	ATP6AP1	23	153662700	Silent	SNP	G	TCGA-VR-A8EU-01A-11D-A36J-09	5624582	153662700	1607860	238	42006											
MORN1	79906	genome.wustl.edu	37	chr1	2290084	2290084	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccactttgaaaaagttGacctcagagtaggctgacag	12	10	10	9	0	1	4	1	3	0	1	2	4	2	4	2	1	0	3	2	1	3	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:2290084G>T	ENST00000378531.3	-	9	989	c.816C>A	c.(814-816)gtC>gtA	p.V272V	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Silent_p.V272V	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	272										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)		TGAAAAAGTTGACCTCAGAGT	0.522																																																	0													175	158	164					1																	2290084		2203	4300	6503	SO:0001819	synonymous_variant	0			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.816C>A	1.37:g.2290084G>T			A6NKZ6|Q8WW30|Q9H852	Silent	SNP	pfam_MORN,smart_MORN	p.V272	ENST00000378531.3	37	c.816	CCDS40.1	1																																																																																			MORN1	-	NULL	ENSG00000116151		0.522	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORN1	HGNC	protein_coding	OTTHUMT00000004055.1	-	0	53	0	G	NM_024848		2290084	-1	tier1	-	no_errors	ENST00000378531	ensembl	human	known	74_37	silent	52.94	16	18	SNP	0.990	T	T	2290084	G	T	2290084	2	4	167	1	0	0	0	0	0	0	0	1	9746	1277	45	3		3	MORN1	1	2290084	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09		2290084	246960537	1	42007											
RER1	11079	genome.wustl.edu	37	chr1	2330933	2330933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctcccaaagtggatcCttccttaatggaagactcag	10	13	7	11	0	3	1	1	0	2	1	6	3	5	3	3	2	0	0	3	2	3	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:2330933C>T	ENST00000605895.1	+	4	399	c.266C>T	c.(265-267)cCt>cTt	p.P89L	RER1_ENST00000378513.3_Intron|RER1_ENST00000378512.1_Missense_Mutation_p.P89L|RER1_ENST00000378518.1_Intron|RER1_ENST00000488353.1_Missense_Mutation_p.P89L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	89					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)		AAAGTGGATCCTTCCTTAATG	0.483																																																	0													101	102	101					1																	2330933		1954	4147	6101	SO:0001583	missense	0			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.266C>T	1.37:g.2330933C>T	ENSP00000475168:p.Pro89Leu		O95322	Missense_Mutation	SNP	pfam_Rer1,pirsf_Rer1	p.P89L	ENST00000605895.1	37	c.266	CCDS41232.1	1	.	.	.	.	.	.	.	.	.	.	c	33	5.229203	0.95173	.	.	ENSG00000157916	ENST00000306256;ENST00000434662;ENST00000378512;ENST00000443438	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91186	0.4980	9	0.87932	D	0	.	18.2556	0.90019	0.0:1.0:0.0:0.0	.	89;89	Q5T091;O15258	.;RER1_HUMAN	L	89	.	ENSP00000302088:P89L	P	+	2	0	RER1	2320793	1.000000	0.71417	0.636000	0.29352	0.996000	0.88848	6.991000	0.76232	2.549000	0.85964	0.586000	0.80456	CCT	RER1	-	pfam_Rer1,pirsf_Rer1	ENSG00000157916		0.483	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RER1	HGNC	protein_coding	OTTHUMT00000004061.2	-	0	88	0	C			2330933	1	tier1	-	no_errors	ENST00000488353	ensembl	human	known	74_37	missense	10.59	75	9	SNP	1.000	T	T	2330933	C	T	2330933	3	4	167	1	0	0	0	0	1	0	0	0	13275	681	24	3	276	3	RER1	1	2330933	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	40849	2330933	246919688	2	42008											
MTOR	2475	genome.wustl.edu	37	chr1	11181417	11181417	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaagtggtcatagtcCggagccatctgcatcaggac	11	8	12	10	1	4	1	3	0	1	1	5	3	5	3	2	3	2	1	2	3	2	1	rs138151561	byFrequency	TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:11181417C>A	ENST00000361445.4	-	49	6895	c.6819G>T	c.(6817-6819)ccG>ccT	p.P2273P	MTOR_ENST00000376838.1_Silent_p.P478P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2273	Interaction with MLST8.|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)	GGTCATAGTCCGGAGCCATCT	0.522																																																	0													125	102	110					1																	11181417		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6819G>T	1.37:g.11181417C>A			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P2273	ENST00000361445.4	37	c.6819	CCDS127.1	1																																																																																			MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000198793		0.522	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1		0	93	0	C	NM_004958		11181417	-1			no_errors	ENST00000361445	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.939	A	A	11181417	C	A	11181417	2	1	167	1	0	0	0	0	0	0	0	1	9992	639	23	2		2	MTOR	1	11181417	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	8850484	11181417	238069204	3	42009											
UBR4	23352	genome.wustl.edu	37	chr1	19478158	19478158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaggttcagcttcttatCagcctgcagggcttcttctc	7	13	10	11	0	5	1	2	0	3	1	6	2	5	1	1	2	3	4	1	2	2	5	rs55848569		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:19478158C>T	ENST00000375254.3	-	48	7219	c.7192G>A	c.(7192-7194)Gat>Aat	p.D2398N	UBR4_ENST00000375267.2_Missense_Mutation_p.D2398N|UBR4_ENST00000375217.2_Missense_Mutation_p.D2398N|UBR4_ENST00000375226.2_Missense_Mutation_p.D2398N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2398					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)		AGCTTCTTATCAGCCTGCAGG	0.537																																																	0													106	103	104					1																	19478158		2203	4300	6503	SO:0001583	missense	0			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.7192G>A	1.37:g.19478158C>T	ENSP00000364403:p.Asp2398Asn		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.D2398N	ENST00000375254.3	37	c.7192	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.381290	0.95945	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040;ENST00000419533	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.76575	0.988;0.971	T	0.18871	-1.0323	10	0.52906	T	0.07	.	18.7955	0.91993	0.0:1.0:0.0:0.0	.	2399;2398	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	N	2398;2398;2398;2398;13;1108;1615	ENSP00000364403:D2398N;ENSP00000364416:D2398N;ENSP00000364365:D2398N;ENSP00000364374:D2398N;ENSP00000404897:D1108N	ENSP00000364365:D2398N	D	-	1	0	UBR4	19350745	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.110000	0.77069	2.686000	0.91538	0.561000	0.74099	GAT	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	46	0	C	NM_020765		19478158	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	19478158	C	T	19478158	3	4	167	1	0	0	0	0	1	0	0	0	16953	826	29	3	8595	3	UBR4	1	19478158	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	8296741	19478158	229772463	4	42010											
COL16A1	1307	genome.wustl.edu	37	chr1	32154674	32154674	+	Missense_Mutation	SNP	T	T	A	0	1	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	ctctcctttgatgccttggaTgccagggtctccctgcaggg	4	12	12	13	0	2	1	0	1	2	0	4	2	2	2	4	3	3	1	4	3	0	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:32154674T>A	ENST00000373672.3	-	24	2149	c.1633A>T	c.(1633-1635)Atc>Ttc	p.I545F	COL16A1_ENST00000373668.3_Missense_Mutation_p.I545F|COL16A1_ENST00000271069.6_Missense_Mutation_p.I545F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	545	Triple-helical region 8 (COL8) with 1 imperfection.				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)		ATGCCTTGGATGCCAGGGTCT	0.572																																					Colon(143;498 1786 21362 25193 36625)												0													88	94	92					1																	32154674		2004	4168	6172	SO:0001583	missense	0			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.1633A>T	1.37:g.32154674T>A	ENSP00000362776:p.Ile545Phe		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.I545F	ENST00000373672.3	37	c.1633	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678809	0.47886	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	D;D;D;D	0.96136	-3.24;-3.92;-3.24;-3.92	5.18	4.02	0.46733	.	0.381455	0.28047	N	0.016812	D	0.91945	0.7449	L	0.28649	0.875	0.36360	D	0.8606	P;P;P	0.50943	0.94;0.879;0.926	P;B;P	0.47626	0.505;0.35;0.552	D	0.90638	0.4572	10	0.30854	T	0.27	.	9.158	0.37005	0.0:0.0:0.1841:0.8159	.	545;545;545	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	F	545;545;545;264	ENSP00000362776:I545F;ENSP00000271069:I545F;ENSP00000362772:I545F;ENSP00000362771:I264F	ENSP00000271069:I545F	I	-	1	0	COL16A1	31927261	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.045000	0.41250	0.894000	0.36317	0.459000	0.35465	ATC	COL16A1	-	NULL	ENSG00000084636		0.572	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	-	0	25	0	T	NM_001856		32154674	-1	tier1	-	no_errors	ENST00000271069	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	A	A	32154674	T	A	32154674	3	1	167	1	0	0	0	0	1	0	0	0	3680	1464	51	5	3373	5	COL16A1	1	32154674	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	12676516	32154674	217095947	5	42011											
MACF1	23499	genome.wustl.edu	37	chr1	39893941	39893941	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacaggatgtcctgcacagGcagcatgctgaccacctggt	11	7	11	12	0	0	1	0	1	0	0	1	2	1	2	3	3	4	4	3	3	1	0			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:39893941G>A	ENST00000372915.3	+	61	16578				MACF1_ENST00000545844.1_Silent_p.R3533R|MACF1_ENST00000317713.7_Silent_p.R3533R|MACF1_ENST00000567887.1_Silent_p.R5632R|MACF1_ENST00000289893.4_Silent_p.R4035R|MACF1_ENST00000361689.2_Silent_p.R3533R|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Silent_p.R5595R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCTGCACAGGCAGCATGCTG	0.403																																																	0													61	53	56					1																	39893941		2203	4299	6502	SO:0001627	intron_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16491+655G>A	1.37:g.39893941G>A			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R3533	ENST00000372915.3	37	c.10599		1																																																																																			MACF1	-	smart_Spectrin/alpha-actinin	ENSG00000127603		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	70	0	G	NM_033044		39893941	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.999	A	A	39893941	G	A	39893941	1	1	167	0	1	0	0	0	0	0	0	0	9180	1194	42	3		3	MACF1	1	39893941	Intron	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	7739267	39893941	209356680	6	42012											
DEM1	64789	genome.wustl.edu	37	chr1	40981009	40981009	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	cccagcagggaggcttctctGtgaagtctttgggtgacctc	6	11	13	11	0	2	2	0	2	2	0	4	3	2	3	2	3	1	2	2	3	1	2	rs143142866	byFrequency	TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:40981009G>C	ENST00000372703.1	+	2	1867	c.793G>C	c.(793-795)Gtg>Ctg	p.V265L	RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.V265L|EXO5_ENST00000296380.4_Missense_Mutation_p.V265L|RP11-656D10.5_ENST00000453437.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	265					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										AGGCTTCTCTGTGAAGTCTTT	0.478																																																	0													169	159	162					1																	40981009		2203	4300	6503	SO:0001583	missense	0			AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)"	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.793G>C	1.37:g.40981009G>C	ENSP00000361788:p.Val265Leu		D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	pfam_EXOV	p.V265L	ENST00000372703.1	37	c.793	CCDS453.1	1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696635	0.68386	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000296380	T;T;T	0.29397	1.57;1.57;1.57	5.31	5.31	0.75309	.	0.117705	0.33401	N	0.004951	T	0.44746	0.1308	L	0.54323	1.7	0.37826	D	0.928554	D	0.65815	0.995	D	0.64877	0.93	T	0.17349	-1.0372	10	0.10111	T	0.7	-6.1257	14.6965	0.69126	0.0:0.0:1.0:0.0	.	265	Q9H790	EXO5_HUMAN	L	265	ENSP00000351328:V265L;ENSP00000361788:V265L;ENSP00000296380:V265L	ENSP00000296380:V265L	V	+	1	0	DEM1	40753596	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.182000	0.58310	2.937000	0.99478	0.650000	0.86243	GTG	EXO5	-	pfam_EXOV	ENSG00000164002		0.478	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXO5	HGNC	protein_coding	OTTHUMT00000019087.1		0	30	0	G	NM_022774		40981009	1			no_errors	ENST00000296380	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	C	C	40981009	G	C	40981009	3	2	167	1	0	0	0	0	1	0	0	0	4439	1377	48	5	795	5	DEM1	1	40981009	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	1087068	40981009	208269612	7	42013											
ZFYVE9	9372	genome.wustl.edu	37	chr1	52798576	52798576	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggctatcagtattcacaAtcagcccagaaaaggtgagc	14	7	9	11	0	3	2	3	1	0	1	3	2	3	2	2	2	2	2	2	2	5	3	rs200871651		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:52798576A>C	ENST00000371591.1	+	13	3706	c.3575A>C	c.(3574-3576)aAt>aCt	p.N1192T	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.N1133T|ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.N1192T	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1192					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGTATTCACAATCAGCCCAGA	0.438																																																	0													105	94	98					1																	52798576		2203	4300	6503	SO:0001583	missense	0			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3575A>C	1.37:g.52798576A>C	ENSP00000360647:p.Asn1192Thr		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.N1192T	ENST00000371591.1	37	c.3575	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.111114	0.37242	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.40225	1.11;1.04;1.04	4.49	3.36	0.38483	Domain of unknown function DUF3480 (1);	0.219472	0.46145	D	0.000309	T	0.30696	0.0773	L	0.35723	1.085	0.35019	D	0.757631	P;B	0.35575	0.51;0.087	B;B	0.32864	0.154;0.102	T	0.43393	-0.9394	10	0.59425	D	0.04	.	9.9164	0.41436	0.919:0.0:0.081:0.0	.	1133;1192	O95405-2;O95405	.;ZFYV9_HUMAN	T	1133;1192;1192	ENSP00000349737:N1133T;ENSP00000287727:N1192T;ENSP00000360647:N1192T	ENSP00000287727:N1192T	N	+	2	0	ZFYVE9	52571164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	0.774000	0.33427	0.455000	0.32223	AAT	ZFYVE9	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin	ENSG00000157077		0.438	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	-	0	60	0	A	NM_007324		52798576	1	tier1	-	no_errors	ENST00000287727	ensembl	human	known	74_37	missense	17.50	33	7	SNP	1.000	C	C	52798576	A	C	52798576	3	2	167	1	0	0	0	0	1	0	0	0	17719	101	4	4	3632	4	ZFYVE9	1	52798576	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	11817567	52798576	196452045	8	42014											
ARHGAP30	257106	genome.wustl.edu	37	chr1	161024465	161024465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctaggatcttgaccaagcGctcaggttccaattgcactc	9	11	8	13	1	3	1	1	1	2	0	5	2	4	2	2	2	2	3	2	2	3	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:161024465G>A	ENST00000368013.3	-	4	696	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R126C|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	126	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)			TTGACCAAGCGCTCAGGTTCC	0.522																																																	0													138	138	138					1																	161024465		2203	4300	6503	SO:0001583	missense	0			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.376C>T	1.37:g.161024465G>A	ENSP00000356992:p.Arg126Cys		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R126C	ENST00000368013.3	37	c.376	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782403	0.90282	.	.	ENSG00000186517	ENST00000368016;ENST00000368013	T;T	0.23147	1.92;1.92	5.87	5.87	0.94306	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.68014	-0.5521	10	0.72032	D	0.01	.	17.7726	0.88497	0.0:0.0:1.0:0.0	.	126;126	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	C	126	ENSP00000356995:R126C;ENSP00000356992:R126C	ENSP00000356992:R126C	R	-	1	0	ARHGAP30	159291089	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.469000	0.60169	2.788000	0.95919	0.650000	0.86243	CGC	ARHGAP30	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000186517		0.522	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	-	0	53	0	G	NM_181720		161024465	-1	tier1	-	no_errors	ENST00000368013	ensembl	human	known	74_37	missense	15.87	53	10	SNP	1.000	A	A	161024465	G	A	161024465	3	1	167	1	0	0	0	0	1	0	0	0	879	1087	38	1	2965	1	ARHGAP30	1	161024465	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	108225889	161024465	88226156	9	42015											
FCGR3A	2214	genome.wustl.edu	37	chr1	161518363	161518363	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgaaaccactgtgtggaaTtgtcctcaggggagtaggct	9	11	14	7	0	1	1	1	1	0	0	2	3	2	3	2	4	1	2	2	4	3	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:161518363T>G	ENST00000436743.1	-	4	321	c.167A>C	c.(166-168)aAt>aCt	p.N56T	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.N91T|FCGR3A_ENST00000367969.3_Missense_Mutation_p.N92T|FCGR3A_ENST00000540048.1_Missense_Mutation_p.N56T	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	56	Ig-like C2-type 1.				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)	CTGTGTGGAATTGTCCTCAGG	0.557																																																	0													251	250	250					1																	161518363		2203	4300	6503	SO:0001583	missense	0			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	ENST00000436743.1:c.167A>C	1.37:g.161518363T>G	ENSP00000416607:p.Asn56Thr		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.N92T	ENST00000436743.1	37	c.275	CCDS44266.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.35|12.35	1.911657|1.911657	0.33721|0.33721	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	.|T;T;T;T;T;T	.|0.11063	.|2.81;2.81;2.81;2.81;2.81;2.81	4.43|4.43	-0.708|-0.708	0.11241|0.11241	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|1.587160	.|0.03963	.|N	.|0.290409	T|T	0.04952|0.04952	0.0133|0.0133	L|L	0.42008|0.42008	1.315|1.315	0.09310|0.09310	N|N	1|1	.|P;P;B	.|0.47302	.|0.804;0.893;0.135	.|P;P;B	.|0.48189	.|0.473;0.57;0.099	T|T	0.20107|0.20107	-1.0285|-1.0285	5|10	.|0.45353	.|T	.|0.12	.|.	4.0893|4.0893	0.09962|0.09962	0.0:0.2938:0.1779:0.5283|0.0:0.2938:0.1779:0.5283	.|.	.|56;91;56	.|P08637;E9PG94;Q9UPY7	.|FCG3A_HUMAN;.;.	L|T	73|92;91;56;56;56;55	.|ENSP00000356946:N92T;ENSP00000392047:N91T;ENSP00000416607:N56T;ENSP00000356944:N56T;ENSP00000444971:N56T;ENSP00000396567:N55T	.|ENSP00000356944:N56T	I|N	-|-	1|2	0|0	FCGR3A|FCGR3A	159784987|159784987	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.016000|0.016000	0.09150|0.09150	-0.062000|-0.062000	0.11674|0.11674	-0.217000|-0.217000	0.10033|0.10033	0.482000|0.482000	0.46254|0.46254	ATT|AAT	FCGR3A	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000203747		0.557	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR3A	HGNC	protein_coding	OTTHUMT00000102169.2	-	0	182	0	T	NM_000569		161518363	-1	tier1	-	no_errors	ENST00000367969	ensembl	human	known	74_37	missense	8.54	150	14	SNP	0.011	G	G	161518363	T	G	161518363	3	3	167	1	0	0	0	0	1	0	0	0	5806	1493	52	4	609	4	FCGR3A	1	161518363	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	493898	161518363	87732258	10	42016											
FCGR3B	2214	genome.wustl.edu	37	chr1	161595991	161595991	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catttttactcccaacaagcCccctgcagaagtaggagccg	11	8	8	14	1	0	1	0	0	0	1	1	2	1	2	4	1	5	2	4	1	5	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:161595991C>G	ENST00000540048.1	-	2	94				FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.G174A|FCGR3B_ENST00000531221.1_Missense_Mutation_p.G210A|FCGR3B_ENST00000367964.2_Missense_Mutation_p.G174A			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)	CCCAACAAGCCCCCTGCAGAA	0.463																																																	0													108	116	113					1																	161595991		2200	4300	6500	SO:0001627	intron_variant	0			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+4166G>C	1.37:g.161595991C>G			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.G174A	ENST00000540048.1	37	c.521		1	.	.	.	.	.	.	.	.	.	.	-	10.86	1.468948	0.26335	.	.	ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221	T;T;T	0.09073	3.02;3.02;3.02	2.47	0.106	0.14540	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.248184	0.28279	N	0.015925	T	0.04048	0.0113	L	0.42686	1.345	0.09310	N	0.999998	D	0.59357	0.985	P	0.50754	0.649	T	0.39482	-0.9612	10	0.40728	T	0.16	.	7.7203	0.28729	0.0:0.4785:0.5215:0.0	.	174	O75015	FCG3B_HUMAN	A	174;174;210	ENSP00000356941:G174A;ENSP00000294800:G174A;ENSP00000433642:G210A	ENSP00000294800:G174A	G	-	2	0	FCGR3B	159862615	0.025000	0.19082	0.376000	0.26042	0.058000	0.15608	0.792000	0.26929	0.352000	0.24053	0.393000	0.25936	GGG	FCGR3B	-	smart_Ig_sub	ENSG00000162747		0.463	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	FCGR3B	HGNC	protein_coding		-	0	185	0	C	NM_000569		161595991	-1	tier1	-	no_errors	ENST00000294800	ensembl	human	known	74_37	missense	7.37	176	14	SNP	0.089	G	G	161595991	C	G	161595991	1	3	167	0	1	0	0	0	0	0	0	0	5807	623	22	5		5	FCGR3B	1	161595991	Intron	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	77628	161595991	87654630	11	42017											
RABGAP1L	9910	genome.wustl.edu	37	chr1	174606588	174606589	+	Missense_Mutation	DNP	GG	GG	TT																															atgattactttaaagatactGgaggagatggtcaagaatcg																										TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:174606588_174606589GG>TT	ENST00000251507.4	+	14	1960_1961	c.1786_1787GG>TT	c.(1786-1788)GGa>TTa	p.G596L		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						TAAAGATACTGGAGGAGATGGT	0.366																																																	0																																										SO:0001583	missense	0			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	Exception_encountered	1.37:g.174606588_174606589delinsTT	ENSP00000251507:p.Gly596Leu		B7ZAA4	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.G596*|p.G596V	ENST00000251507.4	37	c.1786|c.1787	CCDS1314.1	1																																																																																			RABGAP1L	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000152061		0.366	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084497.1	-	0	105|106	0	G	NM_001243765		174606588|174606589	1	tier1	-	no_errors	ENST00000251507	ensembl	human	known	74_37	nonsense|missense	29.63|28.92	57|59	24	SNP	1.000	T	TT	174606589	GG	TT	174606588	3	4	167	1	0	0	0	0	1	0	0	0	13010	1349	47	3	1836	3	RABGAP1L	1	174606588	Missense_Mutation	DNP	GG	TCGA-VR-A8EW-01A-11D-A36J-09	13010597	174606588	74644033	12	42018											
RALGPS2	55103	genome.wustl.edu	37	chr1	178780524	178780524	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagaagttttgagccactaTattaaaactgctaaggtaag	15	11	9	6	0	0	2	0	1	0	1	0	2	0	2	1	1	3	4	1	1	7	7			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:178780524T>C	ENST00000367635.3	+	6	710	c.372T>C	c.(370-372)taT>taC	p.Y124Y	RALGPS2_ENST00000367634.2_Silent_p.Y124Y	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	124	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGAGCCACTATATTAAAACTG	0.269																																																	0													55	66	62					1																	178780524		2201	4274	6475	SO:0001819	synonymous_variant	0			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.372T>C	1.37:g.178780524T>C			B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Silent	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.Y124	ENST00000367635.3	37	c.372	CCDS1325.1	1																																																																																			RALGPS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000116191		0.269	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	-	0	189	0	T	NM_152663		178780524	1	tier1	-	no_errors	ENST00000367635	ensembl	human	known	74_37	silent	18.04	159	35	SNP	1.000	C	C	178780524	T	C	178780524	2	2	167	1	0	0	0	0	0	0	0	1	13063	1413	49	4		4	RALGPS2	1	178780524	Silent	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	4173936	178780524	70470097	13	42019											
RALGPS2	55103	genome.wustl.edu	37	chr1	178848093	178848093	+	Missense_Mutation	SNP	G	G	C																															actctgttcagtatatagaaGaactacaaaaatttgtggaa																										TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:178848093G>C	ENST00000367635.3	+	10	1140	c.802G>C	c.(802-804)Gaa>Caa	p.E268Q	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.E268Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	268	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTATATAGAAGAACTACAAAA	0.338																																																	0													79	80	80					1																	178848093		2202	4297	6499	SO:0001583	missense	0			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.802G>C	1.37:g.178848093G>C	ENSP00000356607:p.Glu268Gln		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.E268Q	ENST00000367635.3	37	c.802	CCDS1325.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.67|19.67	3.870754|3.870754	0.72065|0.72065	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778|ENST00000415888	T;T;T|.	0.32988|.	1.43;1.43;1.43|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69602|0.69602	0.3129|0.3129	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	P;P|.	0.42757|.	0.647;0.789|.	B;B|.	0.37144|.	0.242;0.173|.	T|T	0.64888|0.64888	-0.6301|-0.6301	10|5	0.66056|.	D|.	0.02|.	.|.	19.2348|19.2348	0.93855|0.93855	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	268;268|.	B7Z7B1;Q86X27|.	.;RGPS2_HUMAN|.	Q|T	268;268;233|5	ENSP00000356607:E268Q;ENSP00000356606:E268Q;ENSP00000313613:E233Q|.	ENSP00000313613:E233Q|.	E|R	+|+	1|2	0|0	RALGPS2|RALGPS2	177114716|177114716	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.813000|9.813000	0.99286|0.99286	2.721000|2.721000	0.93114|0.93114	0.585000|0.585000	0.79938|0.79938	GAA|AGA	RALGPS2	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000116191		0.338	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	-	0	93	0	G	NM_152663		178848093	1	tier1	-	no_errors	ENST00000367635	ensembl	human	known	74_37	missense	8.33	88	8	SNP	1.000	C	C	178848093	G	C	178848093	3	2	167	1	0	0	0	0	1	0	0	0	13063	943	33	5	836	5	RALGPS2	1	178848093	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	67569	178848093	70402528	14	42020	148	2									
RALGPS2	55103	genome.wustl.edu	37	chr1	178848102	178848102	+	Missense_Mutation	SNP	A	A	C																															agtatatagaagaactacaaAaatttgtggaagacgataat																										TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:178848102A>C	ENST00000367635.3	+	10	1149	c.811A>C	c.(811-813)Aaa>Caa	p.K271Q	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.K271Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	271	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGAACTACAAAAATTTGTGGA	0.333																																																	0													72	74	73					1																	178848102		2202	4298	6500	SO:0001583	missense	0			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.811A>C	1.37:g.178848102A>C	ENSP00000356607:p.Lys271Gln		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.K271Q	ENST00000367635.3	37	c.811	CCDS1325.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.9|23.9	4.470866|4.470866	0.84533|0.84533	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778|ENST00000415888	T;T;T|.	0.47177|.	0.85;0.85;0.85|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.72795|0.72795	0.3505|0.3505	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	B;P|.	0.50156|.	0.075;0.932|.	B;B|.	0.44278|.	0.023;0.445|.	T|T	0.72527|0.72527	-0.4266|-0.4266	10|6	0.62326|.	D|.	0.03|.	.|.	15.4637|15.4637	0.75381|0.75381	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	271;271|.	B7Z7B1;Q86X27|.	.;RGPS2_HUMAN|.	Q|T	271;271;236|8	ENSP00000356607:K271Q;ENSP00000356606:K271Q;ENSP00000313613:K236Q|.	ENSP00000313613:K236Q|.	K|K	+|+	1|2	0|0	RALGPS2|RALGPS2	177114725|177114725	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	9.287000|9.287000	0.95975|0.95975	2.197000|2.197000	0.70478|0.70478	0.477000|0.477000	0.44152|0.44152	AAA|AAA	RALGPS2	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000116191		0.333	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	-	0	95	0	A	NM_152663		178848102	1	tier1	-	no_errors	ENST00000367635	ensembl	human	known	74_37	missense	7.37	88	7	SNP	1.000	C	C	178848102	A	C	178848102	3	2	167	1	0	0	0	0	1	0	0	0	13063	15	1	4	845	4	RALGPS2	1	178848102	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	9	178848102	70402519	15	42021	148	2									
SOX13	9580	genome.wustl.edu	37	chr1	204093838	204093838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaggcgcggctgagccGgcagcacctggagaagtatc	10	4	16	11	3	0	2	0	1	0	1	1	4	0	3	2	5	3	4	2	5	3	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:204093838G>A	ENST00000367204.1	+	13	1554	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	482					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)			CGGCTGAGCCGGCAGCACCTG	0.632																																																	0													21	26	24					1																	204093838		2195	4297	6492	SO:0001583	missense	0				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.1445G>A	1.37:g.204093838G>A	ENSP00000356172:p.Arg482Gln		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R482Q	ENST00000367204.1	37	c.1445	CCDS44299.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.252528	0.95336	.	.	ENSG00000143842	ENST00000367204	D	0.97772	-4.53	5.53	5.53	0.82687	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	N	0.12831	0.26	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.985;0.998	D	0.99478	1.0947	10	0.87932	D	0	.	19.0635	0.93101	0.0:0.0:1.0:0.0	.	349;349;482	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	Q	482	ENSP00000356172:R482Q	ENSP00000356172:R482Q	R	+	2	0	SOX13	202360461	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.799000	0.75160	2.596000	0.87737	0.491000	0.48974	CGG	SOX13	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000143842		0.632	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX13	HGNC	protein_coding	OTTHUMT00000087881.2		0	99	0	G	NM_005686		204093838	1			no_errors	ENST00000367204	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A	A	204093838	G	A	204093838	3	1	167	1	0	0	0	0	1	0	0	0	14989	1116	39	1	1491	1	SOX13	1	204093838	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	25245736	204093838	45156783	16	42022											
PLXNA2	5362	genome.wustl.edu	37	chr1	208315706	208315706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacgtacaggtagcgctGatcaatggagaaggccatgt	12	8	13	8	2	1	3	1	2	0	1	1	4	1	3	1	3	2	3	1	3	4	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:208315706G>T	ENST00000367033.3	-	4	2231	c.1474C>A	c.(1474-1476)Cag>Aag	p.Q492K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	492	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)		AGGTAGCGCTGATCAATGGAG	0.542																																																	0													98	85	90					1																	208315706		2203	4300	6503	SO:0001583	missense	0			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.1474C>A	1.37:g.208315706G>T	ENSP00000356000:p.Gln492Lys		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.Q492K	ENST00000367033.3	37	c.1474	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228220	0.22542	.	.	ENSG00000076356	ENST00000367033	T	0.04119	3.7	4.89	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.333388	0.32175	N	0.006476	T	0.03136	0.0092	N	0.11064	0.09	0.32639	N	0.520904	B	0.11235	0.004	B	0.04013	0.001	T	0.28038	-1.0056	10	0.20519	T	0.43	.	12.7569	0.57341	0.0:0.0:0.8358:0.1642	.	492	O75051	PLXA2_HUMAN	K	492	ENSP00000356000:Q492K	ENSP00000356000:Q492K	Q	-	1	0	PLXNA2	206382329	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	3.794000	0.55492	2.254000	0.74563	0.655000	0.94253	CAG	PLXNA2	-	superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000076356		0.542	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0	110	0	G	NM_025179		208315706	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	6.38	88	6	SNP	1.000	T	T	208315706	G	T	208315706	3	4	167	1	0	0	0	0	1	0	0	0	12159	1299	45	3	4326	3	PLXNA2	1	208315706	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	4221868	208315706	40934915	17	42023											
C1orf74	148304	genome.wustl.edu	37	chr1	209956409	209956409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagctaagcagttgtcatCtccctggttcaggtgaaagg	10	10	12	9	0	3	2	2	1	1	1	4	2	3	2	1	3	2	4	1	3	2	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:209956409C>T	ENST00000294811.1	-	2	827	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	191										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		CAGTTGTCATCTCCCTGGTTC	0.502																																																	0													114	121	118					1																	209956409		2203	4300	6503	SO:0001583	missense	0			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.571G>A	1.37:g.209956409C>T	ENSP00000294811:p.Asp191Asn			Missense_Mutation	SNP	NULL	p.D191N	ENST00000294811.1	37	c.571	CCDS1491.1	1	.	.	.	.	.	.	.	.	.	.	C	3.775	-0.046754	0.07407	.	.	ENSG00000162757	ENST00000294811	T	0.42513	0.97	5.27	2.22	0.28083	.	0.477671	0.22924	N	0.053991	T	0.29126	0.0724	L	0.44542	1.39	0.24263	N	0.995274	B	0.10296	0.003	B	0.08055	0.003	T	0.14282	-1.0478	10	0.27082	T	0.32	-24.1906	5.6251	0.17478	0.3253:0.5221:0.0:0.1525	.	191	Q96LT6	CA074_HUMAN	N	191	ENSP00000294811:D191N	ENSP00000294811:D191N	D	-	1	0	C1orf74	208023032	0.001000	0.12720	0.227000	0.23927	0.972000	0.66771	0.548000	0.23314	0.616000	0.30141	-0.140000	0.14226	GAT	C1orf74	-	NULL	ENSG00000162757		0.502	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf74	HGNC	protein_coding	OTTHUMT00000088745.1	-	0	85	0	C	NM_152485		209956409	-1	tier1	-	no_errors	ENST00000294811	ensembl	human	known	74_37	missense	21.52	62	17	SNP	0.696	T	T	209956409	C	T	209956409	3	4	167	1	0	0	0	0	1	0	0	0	2065	913	32	3	242	3	C1orf74	1	209956409	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	1640703	209956409	39294212	18	42024											
USH2A	7399	genome.wustl.edu	37	chr1	216595333	216595333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctatgggcgttaggatgcaGatcattcttgtctggtgtga	7	14	14	6	1	3	2	1	1	2	1	3	3	3	3	0	3	1	3	0	3	2	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:216595333G>A	ENST00000307340.3	-	2	732	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	USH2A_ENST00000366942.3_Silent_p.L116L|USH2A_ENST00000366943.2_Silent_p.L116L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	116					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)		TTAGGATGCAGATCATTCTTG	0.443										HNSCC(13;0.011)																																							0													120	111	114					1																	216595333		2203	4300	6503	SO:0001819	synonymous_variant	0			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.346C>T	1.37:g.216595333G>A			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L116	ENST00000307340.3	37	c.346	CCDS31025.1	1																																																																																			USH2A	-	NULL	ENSG00000042781		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	71	0	G	NM_007123		216595333	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	19.74	61	15	SNP	0.139	A	A	216595333	G	A	216595333	2	1	167	1	0	0	0	0	0	0	0	1	17085	933	33	3		3	USH2A	1	216595333	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	6638924	216595333	32655288	19	42025											
OR2L8	391190	genome.wustl.edu	37	chr1	248112321	248112321	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcttcttggacacccatctCcacacacccatgtatttcct	9	13	3	16	0	3	0	0	0	3	0	5	1	4	1	4	1	0	1	4	1	1	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr1:248112321C>A	ENST00000357191.3	+	1	162	c.162C>A	c.(160-162)ctC>ctA	p.L54L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	54						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)			ACACCCATCTCCACACACCCA	0.408																																																	0													363	322	336					1																	248112321		2203	4300	6503	SO:0001819	synonymous_variant	0			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.162C>A	1.37:g.248112321C>A			Q6IF03	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L54	ENST00000357191.3	37	c.162	CCDS31101.1	1																																																																																			OR2L8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196936		0.408	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	-	0	160	0	C			248112321	1	tier1	-	no_errors	ENST00000357191	ensembl	human	known	74_37	silent	10.00	153	17	SNP	0.656	A	A	248112321	C	A	248112321	2	1	167	1	0	0	0	0	0	0	0	1	11048	842	30	3		3	OR2L8	1	248112321	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	31516988	248112321	1138300	20	42026											
NOL10	79954	genome.wustl.edu	37	chr2	10729208	10729208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcagaatctttgaagcttCtaaattcttctcctgctttg	8	17	7	9	0	4	2	0	1	4	1	5	2	4	2	1	1	2	3	1	1	4	6			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:10729208C>G	ENST00000381685.5	-	19	1910	c.1805G>C	c.(1804-1806)aGa>aCa	p.R602T	AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000542668.1_Missense_Mutation_p.R552T|NOL10_ENST00000345985.3_Missense_Mutation_p.R552T|NOL10_ENST00000538384.1_Missense_Mutation_p.R576T	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	602						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TTTGAAGCTTCTAAATTCTTC	0.478																																																	0													140	150	147					2																	10729208		2203	4300	6503	SO:0001583	missense	0			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1805G>C	2.37:g.10729208C>G	ENSP00000371101:p.Arg602Thr		A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R602T	ENST00000381685.5	37	c.1805	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012481	0.54468	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.42131	0.98;2.23;1.58;2.23	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	L	0.53249	1.67	0.80722	D	1	B;B;P	0.50819	0.205;0.205;0.939	B;B;P	0.48677	0.035;0.035;0.586	T	0.28618	-1.0038	10	0.11794	T	0.64	-15.9359	19.4318	0.94772	0.0:1.0:0.0:0.0	.	576;602;552	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	T	552;602;552;576	ENSP00000263837:R552T;ENSP00000371101:R602T;ENSP00000437625:R552T;ENSP00000439663:R576T	ENSP00000263837:R552T	R	-	2	0	NOL10	10646659	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.252000	0.78309	2.668000	0.90789	0.591000	0.81541	AGA	NOL10	-	NULL	ENSG00000115761		0.478	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1		0	31	0	C	NM_024894		10729208	-1			no_errors	ENST00000381685	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	G	G	10729208	C	G	10729208	3	3	167	1	0	0	0	0	1	0	0	0	10559	913	32	5	273	5	NOL10	2	10729208	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09		10729208	232470165	21	42027											
LTBP1	4052	genome.wustl.edu	37	chr2	33488449	33488449	+	Silent	SNP	T	T	C	0	1	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	agccaagtgattgctcctacTcaagtgacaggttggtgcag	10	10	12	9	0	1	2	1	2	0	0	2	2	2	2	2	2	4	3	2	2	3	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:33488449T>C	ENST00000404816.2	+	15	2960	c.2607T>C	c.(2605-2607)acT>acC	p.T869T	LTBP1_ENST00000407925.1_Silent_p.T543T|LTBP1_ENST00000418533.2_Silent_p.T543T|LTBP1_ENST00000390003.4_Silent_p.T544T|LTBP1_ENST00000402934.1_Silent_p.T490T|LTBP1_ENST00000404525.1_Silent_p.T490T|LTBP1_ENST00000354476.3_Silent_p.T870T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	869					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)				TTGCTCCTACTCAAGTGACAG	0.413																																																	0													128	122	124					2																	33488449		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2607T>C	2.37:g.33488449T>C			A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.T870	ENST00000404816.2	37	c.2610	CCDS33177.2	2																																																																																			LTBP1	-	NULL	ENSG00000049323		0.413	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2		0	51	0	T	NM_206943		33488449	1			no_errors	ENST00000354476	ensembl	human	known	74_37	silent	6.90	54	4	SNP	1.000	C	C	33488449	T	C	33488449	2	2	167	1	0	0	0	0	0	0	0	1	9108	1538	54	4		4	LTBP1	2	33488449	Silent	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	22759241	33488449	209710924	22	42028											
PREPL	9581	genome.wustl.edu	37	chr2	44553863	44553863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcacctccaaagtcacCgctctcaccagctctggatt	9	10	6	16	1	4	0	3	0	2	0	6	1	5	1	4	1	2	3	4	1	2	2	rs140525819		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:44553863C>T	ENST00000409936.1	-	11	2171	c.1734G>A	c.(1732-1734)gcG>gcA	p.A578A	PREPL_ENST00000410081.1_Silent_p.A578A|PREPL_ENST00000409411.1_Silent_p.A489A|PREPL_ENST00000260648.6_Silent_p.A578A|PREPL_ENST00000409272.1_Silent_p.A578A|PREPL_ENST00000378520.3_Silent_p.A512A|PREPL_ENST00000378511.3_Silent_p.A516A|PREPL_ENST00000409957.1_Silent_p.A489A|PREPL_ENST00000541738.1_Silent_p.A489A	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	578						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.A578A(1)		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)				CCAAAGTCACCGCTCTCACCA	0.483																																																	1	Substitution - coding silent(1)	lung(1)						C	,,,,,,	2,4404	4.2+/-10.8	0,2,2201	95	89	91		1548,1536,1734,1734,1467,1467,1734	-8	0.5	2	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PREPL	NM_001042385.2,NM_001042386.2,NM_001171603.1,NM_001171606.1,NM_001171613.1,NM_001171617.1,NM_006036.4	,,,,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,,,,	516/666,512/662,578/728,578/728,489/639,489/639,578/728	44553863	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1734G>A	2.37:g.44553863C>T			A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Silent	SNP	pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A	p.A578	ENST00000409936.1	37	c.1734	CCDS33190.1	2																																																																																			PREPL	-	pfam_Peptidase_S9	ENSG00000138078		0.483	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1		0	62	0	C	NM_006036		44553863	-1			no_errors	ENST00000260648	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.151	T	T	44553863	C	T	44553863	2	4	167	1	0	0	0	0	0	0	0	1	12517	639	23	1		1	PREPL	2	44553863	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	11065414	44553863	198645510	23	42029											
TEX261	113419	genome.wustl.edu	37	chr2	71220847	71220847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagatcatgtattttatgatCctgctggtggccactgtgta	8	15	10	8	0	1	2	1	1	0	1	2	2	2	2	2	2	1	3	2	2	3	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:71220847C>G	ENST00000272438.4	-	2	316	c.129G>C	c.(127-129)agG>agC	p.R43S	AC007040.11_ENST00000606025.1_Missense_Mutation_p.R43S|TEX261_ENST00000466731.1_5'UTR|AC007040.6_ENST00000416229.1_RNA|AC007040.6_ENST00000601923.1_RNA	NM_144582.2	NP_653183.2	Q6UWH6	TX261_HUMAN	testis expressed 261	43						integral component of membrane (GO:0016021)				NS(1)|breast(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						ATTTTATGATCCTGCTGGTGG	0.522																																																	0													213	213	213					2																	71220847		2203	4300	6503	SO:0001583	missense	0			AL832385	CCDS1914.1	2p13.3	2013-09-24	2007-03-13		ENSG00000144043	ENSG00000144043			30712	protein-coding gene	gene with protein product			"testis expressed sequence 261"			9464256	Standard	NM_144582		Approved	MGC32043, TEG-261	uc002shn.3	Q6UWH6	OTTHUMG00000129708	ENST00000272438.4:c.129G>C	2.37:g.71220847C>G	ENSP00000272438:p.Arg43Ser		A1A587|D6W5G9|Q8WUJ5	Missense_Mutation	SNP	pfam_Transmembrane_adaptor_Erv26	p.R43S	ENST00000272438.4	37	c.129	CCDS1914.1	2	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679158	0.47886	.	.	ENSG00000144043	ENST00000272438	.	.	.	5.17	0.922	0.19408	.	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.84773	2.715	0.58432	D	0.999993	D	0.59357	0.985	D	0.69824	0.966	T	0.66352	-0.5945	9	0.48119	T	0.1	-9.5538	2.705	0.05159	0.3181:0.3175:0.0:0.3644	.	43	Q6UWH6	TX261_HUMAN	S	43	.	ENSP00000272438:R43S	R	-	3	2	TEX261	71074355	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.227000	0.17795	0.653000	0.30826	-0.244000	0.11960	AGG	TEX261	-	pfam_Transmembrane_adaptor_Erv26	ENSG00000144043		0.522	TEX261-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX261	HGNC	protein_coding	OTTHUMT00000251916.1	-	0	38	0	C	NM_144582		71220847	-1	tier1	-	no_errors	ENST00000272438	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.999	G	G	71220847	C	G	71220847	3	3	167	1	0	0	0	0	1	0	0	0	15829	854	30	5	481	5	TEX261	2	71220847	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	26666984	71220847	171978526	24	42030											
CTNNA2	1496	genome.wustl.edu	37	chr2	80808922	80808922	+	Missense_Mutation	SNP	T	T	A	0	1	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	tcagactgaggatgaccagcTcattgcagggcagagcgcac	11	6	13	11	1	2	4	2	2	0	2	2	5	2	5	1	2	3	4	1	2	0	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:80808922T>A	ENST00000402739.4	+	13	1990	c.1985T>A	c.(1984-1986)cTc>cAc	p.L662H	CTNNA2_ENST00000496558.1_Missense_Mutation_p.L662H|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L662H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L341H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L662H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L696H|CTNNA2_ENST00000466387.1_Missense_Mutation_p.L662H|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000596887.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	662					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						GATGACCAGCTCATTGCAGGG	0.478																																																	0													93	99	97					2																	80808922		2111	4208	6319	SO:0001583	missense	0				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.1985T>A	2.37:g.80808922T>A	ENSP00000384638:p.Leu662His		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.L696H	ENST00000402739.4	37	c.2087		2	.	.	.	.	.	.	.	.	.	.	T	28.8	4.954287	0.92726	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	M	0.63428	1.95	0.80722	D	1	B;B;D;D	0.71674	0.321;0.12;0.998;0.997	B;B;D;D	0.67382	0.138;0.221;0.951;0.951	T	0.60161	-0.7317	9	.	.	.	.	15.9602	0.79926	0.0:0.0:0.0:1.0	.	294;662;662;662	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	H	662;662;696;662;662;662;341	ENSP00000418191:L662H;ENSP00000419295:L662H;ENSP00000355398:L696H;ENSP00000384638:L662H;ENSP00000444675:L662H;ENSP00000441705:L662H;ENSP00000341500:L341H	.	L	+	2	0	CTNNA2	80662433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.158000	0.67659	0.528000	0.53228	CTC	CTNNA2	-	pfam_Vinculin/catenin	ENSG00000066032		0.478	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	-	0	80	0	T	NM_004389		80808922	1	tier1	-	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	11.76	60	8	SNP	1.000	A	A	80808922	T	A	80808922	3	1	167	1	0	0	0	0	1	0	0	0	4022	1551	54	5	1827	5	CTNNA2	2	80808922	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	9588075	80808922	162390451	25	42031											
ACOXL	55289	genome.wustl.edu	37	chr2	111666433	111666433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaccaaacacagaccctgCggctgatgccccacctggcc	10	4	9	18	1	0	2	0	1	0	1	0	2	0	2	6	2	4	2	6	2	1	0			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:111666433C>T	ENST00000389811.4	+	11	1080	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ACOXL_ENST00000439055.1_Missense_Mutation_p.R286W			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	286					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ACAGACCCTGCGGCTGATGCC	0.547																																																	0													103	97	99					2																	111666433		2203	4300	6503	SO:0001583	missense	0				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"acyl-Coenzyme A oxidase-like"				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.856C>T	2.37:g.111666433C>T	ENSP00000374461:p.Arg286Trp		A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	p.R286W	ENST00000389811.4	37	c.856		2	.	.	.	.	.	.	.	.	.	.	c	5.224	0.226900	0.09916	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074	T;T;T	0.72725	-0.68;-0.68;-0.68	5.15	0.937	0.19494	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.437841	0.18864	N	0.129039	T	0.81692	0.4876	M	0.93150	3.385	0.32298	N	0.565398	B;B;P	0.47962	0.445;0.391;0.903	B;B;P	0.53809	0.11;0.046;0.735	T	0.81865	-0.0736	10	0.87932	D	0	-23.9328	7.4993	0.27509	0.2519:0.5999:0.0:0.1482	.	286;286;286	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	W	286;286;137;124	ENSP00000374461:R286W;ENSP00000407761:R286W;ENSP00000387832:R124W	ENSP00000374461:R286W	R	+	1	2	ACOXL	111382904	0.047000	0.20315	0.014000	0.15608	0.190000	0.23558	0.142000	0.16096	-0.413000	0.07507	-0.810000	0.03169	CGG	ACOXL	-	pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000153093		0.547	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	ACOXL	HGNC	protein_coding	OTTHUMT00000254024.2		0	64	0	C	NM_018308		111666433	1			no_errors	ENST00000439055	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.052	T	T	111666433	C	T	111666433	3	4	167	1	0	0	0	0	1	0	0	0	161	759	27	1	894	1	ACOXL	2	111666433	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	30857511	111666433	131532940	26	42032											
UGGT1	56886	genome.wustl.edu	37	chr2	128900707	128900707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagaaaaagtgaaagttGaacatgtggtcagtgtcctg	13	10	13	5	0	1	3	1	2	0	1	2	4	2	3	1	2	1	1	1	2	4	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:128900707G>A	ENST00000259253.6	+	17	1806	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	UGGT1_ENST00000375990.3_Missense_Mutation_p.E563K	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	587					'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						AGTGAAAGTTGAACATGTGGT	0.348																																																	0													151	145	147					2																	128900707		2203	4300	6503	SO:0001583	missense	0			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.1759G>A	2.37:g.128900707G>A	ENSP00000259253:p.Glu587Lys		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.E587K	ENST00000259253.6	37	c.1759	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321650	0.41096	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.35421	1.31;1.31	5.23	5.23	0.72850	.	0.271330	0.42053	D	0.000774	T	0.24314	0.0589	N	0.21617	0.685	0.53688	D	0.99997	B;B	0.11235	0.001;0.004	B;B	0.09377	0.003;0.004	T	0.05566	-1.0877	10	0.22109	T	0.4	.	12.5121	0.56011	0.077:0.0:0.923:0.0	.	563;587	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	K	563;587	ENSP00000365158:E563K;ENSP00000259253:E587K	ENSP00000259253:E587K	E	+	1	0	UGGT1	128617177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.256000	0.65468	2.608000	0.88229	0.650000	0.86243	GAA	UGGT1	-	NULL	ENSG00000136731		0.348	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0	139	0	G	NM_020120		128900707	1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	missense	22.70	109	32	SNP	1.000	A	A	128900707	G	A	128900707	3	1	167	1	0	0	0	0	1	0	0	0	16990	1291	45	3	1825	3	UGGT1	2	128900707	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	17234274	128900707	114298666	27	42033											
LRP1B	53353	genome.wustl.edu	37	chr2	142567879	142567879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactcgtctgaatcatcaggGcagtcagggtccccatcaca	10	8	10	13	1	5	1	4	1	1	0	7	2	6	1	2	2	0	1	2	2	1	0			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:142567879G>A	ENST00000389484.3	-	2	1145	c.174C>T	c.(172-174)tgC>tgT	p.C58C	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	58	LDL-receptor class A 1. {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)		AATCATCAGGGCAGTCAGGGT	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													63	59	60					2																	142567879		2203	4300	6503	SO:0001819	synonymous_variant	0			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.174C>T	2.37:g.142567879G>A			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.C58	ENST00000389484.3	37	c.174	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	100	0	G	NM_018557		142567879	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	A	A	142567879	G	A	142567879	2	1	167	1	0	0	0	0	0	0	0	1	8990	1195	42	3		3	LRP1B	2	142567879	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	13667172	142567879	100631494	28	42034											
WDSUB1	151525	genome.wustl.edu	37	chr2	160114319	160114320	+	Frame_Shift_Ins	INS	-	-	T																															gatgttcactgttttgtccaINSttgaaccagtagcaagtaaa																								rs140416254	byFrequency	TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:160114319_160114320insT	ENST00000409990.3	-	8	1157_1158	c.901_902insA	c.(901-903)atgfs	p.M301fs	WDSUB1_ENST00000409124.1_Frame_Shift_Ins_p.M301fs|WDSUB1_ENST00000358147.4_Intron|WDSUB1_ENST00000392796.3_Frame_Shift_Ins_p.M301fs|WDSUB1_ENST00000359774.4_Frame_Shift_Ins_p.M301fs	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	301							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						TGTTTTGTCCATTGAACCAGTA	0.361																																																	0																																										SO:0001589	frameshift_variant	0			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.902dupA	2.37:g.160114321_160114321dupT	ENSP00000387078:p.Met301fs		Q53TI9|Q8N6N8	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_Ubox_domain,pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_WD40_repeat_dom,superfamily_SAM/pointed,smart_WD40_repeat,smart_SAM,smart_Ubox_domain,pfscan_SAM,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.M301fs	ENST00000409990.3	37	c.902_901	CCDS2208.1	2																																																																																			WDSUB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000196151		0.361	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WDSUB1	HGNC	protein_coding	OTTHUMT00000333339.1		0	62	0	-	NM_152528		160114320	-1	tier1		no_errors	ENST00000359774	ensembl	human	known	74_37	frame_shift_ins	55.10	22	27	INS	1.000:1.000	T	T	160114320	-	T	160114319	7	5	167	1	0	1	1	0	0	0	0	0	17390	217	8	0	544	0	WDSUB1	2	160114319	Frame_Shift_Ins	INS	-	TCGA-VR-A8EW-01A-11D-A36J-09	17546440	160114319	83085054	29	42035											
DNAH7	56171	genome.wustl.edu	37	chr2	196799411	196799411	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaataatctctatgagttcTacaacctctccttcgctgct	10	14	5	12	1	3	1	0	1	3	0	6	2	3	1	2	0	3	3	2	0	5	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:196799411T>C	ENST00000312428.6	-	21	3475	c.3375A>G	c.(3373-3375)gtA>gtG	p.V1125V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1125	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						CTATGAGTTCTACAACCTCTC	0.403																																																	0													154	148	150					2																	196799411		1871	4107	5978	SO:0001819	synonymous_variant	0			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.3375A>G	2.37:g.196799411T>C			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.V1125	ENST00000312428.6	37	c.3375	CCDS42794.1	2																																																																																			DNAH7	-	pfam_Dynein_heavy_dom-2	ENSG00000118997		0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	67	0	T	NM_018897		196799411	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	silent	19.80	81	20	SNP	0.998	C	C	196799411	T	C	196799411	2	2	167	1	0	0	0	0	0	0	0	1	4620	1509	53	4		4	DNAH7	2	196799411	Silent	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	36685092	196799411	46399962	30	42036											
DOCK10	55619	genome.wustl.edu	37	chr2	225710304	225710304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcacaggtgacgtgataaAaagaaaacaaaatatggtgt	18	9	10	4	1	1	3	1	2	0	1	1	3	1	3	0	2	1	0	0	2	8	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:225710304A>G	ENST00000258390.7	-	20	2358	c.2291T>C	c.(2290-2292)tTt>tCt	p.F764S	DOCK10_ENST00000409592.3_Missense_Mutation_p.F758S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	764	DHR-1.				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)		GACGTGATAAAAAGAAAACAA	0.403																																																	0													143	135	138					2																	225710304		1863	4103	5966	SO:0001583	missense	0			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.2291T>C	2.37:g.225710304A>G	ENSP00000258390:p.Phe764Ser		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F764S	ENST00000258390.7	37	c.2291	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697576	0.88830	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.19938	2.11;2.11	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.93062	3.375	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68861	-0.5297	10	0.87932	D	0	.	15.4945	0.75637	1.0:0.0:0.0:0.0	.	764;758	Q96BY6;B3FL70	DOC10_HUMAN;.	S	758;764	ENSP00000386694:F758S;ENSP00000258390:F764S	ENSP00000258390:F764S	F	-	2	0	DOCK10	225418548	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.962000	0.93254	2.058000	0.61347	0.533000	0.62120	TTT	DOCK10	-	NULL	ENSG00000135905		0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1		0	43	0	A			225710304	-1			no_errors	ENST00000258390	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	G	G	225710304	A	G	225710304	3	3	167	1	0	0	0	0	1	0	0	0	4699	14	1	4	4417	4	DOCK10	2	225710304	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	28910893	225710304	17489069	31	42037											
SP140L	93349	genome.wustl.edu	37	chr2	231266421	231266421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgaaggagcccatgtggttgGataaaatcaagaaaaggctg	15	8	13	5	0	1	2	1	1	0	1	1	4	1	4	1	4	1	2	1	4	6	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:231266421G>C	ENST00000415673.2	+	18	1629	c.1543G>C	c.(1543-1545)Gat>Cat	p.D515H	SP140L_ENST00000396563.4_3'UTR|SP140L_ENST00000243810.6_3'UTR	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	515	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CATGTGGTTGGATAAAATCAA	0.478																																																	0													11	10	10					2																	231266421		1762	3994	5756	SO:0001583	missense	0			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1543G>C	2.37:g.231266421G>C	ENSP00000397911:p.Asp515His		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.D515H	ENST00000415673.2	37	c.1543	CCDS46538.1	2	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432081	0.43122	.	.	ENSG00000185404	ENST00000415673	T	0.31247	1.5	2.92	0.798	0.18660	.	.	.	.	.	T	0.45637	0.1352	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.37244	-0.9714	9	0.72032	D	0.01	.	4.6152	0.12422	0.3932:0.0:0.6068:0.0	.	515	Q9H930-4	.	H	515	ENSP00000397911:D515H	ENSP00000397911:D515H	D	+	1	0	SP140L	230974665	0.006000	0.16342	0.993000	0.49108	0.924000	0.55760	0.150000	0.16263	0.068000	0.16574	0.298000	0.19748	GAT	SP140L	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000185404		0.478	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SP140L	HGNC	protein_coding	OTTHUMT00000374538.1	-	0	110	0	G	NM_138402		231266421	1	tier1	-	no_errors	ENST00000415673	ensembl	human	known	74_37	missense	10.91	98	12	SNP	0.990	C	C	231266421	G	C	231266421	3	2	167	1	0	0	0	0	1	0	0	0	15008	1174	41	5	1613	5	SP140L	2	231266421	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	5556117	231266421	11932952	32	42038											
COL6A3	1293	genome.wustl.edu	37	chr2	238242105	238242105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactcacctgtttcagtgaGagccaatggttctgtgctca	9	12	9	11	0	4	1	3	1	1	1	4	2	4	1	2	1	3	3	2	1	2	2	rs112455407		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr2:238242105G>A	ENST00000295550.4	-	42	9768	c.9316C>T	c.(9316-9318)Ctc>Ttc	p.L3106F	COL6A3_ENST00000346358.4_Missense_Mutation_p.L2906F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L2905F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2900F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2900F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L2499F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3106	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTTCAGTGAGAGCCAATGGT	0.413																																																	0													96	90	92					2																	238242105		2203	4300	6503	SO:0001583	missense	0			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.9316C>T	2.37:g.238242105G>A	ENSP00000295550:p.Leu3106Phe		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.L3106F	ENST00000295550.4	37	c.9316	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	7.270	0.606989	0.14002	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	4.79	2.02	0.26589	Proteinase inhibitor I2, Kunitz metazoa (1);	0.423587	0.19722	N	0.107565	T	0.37598	0.1009	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.17137	-1.0379	10	0.31617	T	0.26	.	6.7351	0.23405	0.2519:0.486:0.2622:0.0	.	2499;2900;3106	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	F	3106;2905;2900;2499;2900;2906	ENSP00000295550:L3106F;ENSP00000315609:L2905F;ENSP00000315873:L2900F;ENSP00000418285:L2499F;ENSP00000386844:L2900F;ENSP00000295546:L2906F	ENSP00000295550:L3106F	L	-	1	0	COL6A3	237906844	0.001000	0.12720	0.001000	0.08648	0.788000	0.44548	0.324000	0.19610	0.197000	0.20387	0.650000	0.86243	CTC	COL6A3	-	superfamily_Prot_inh_Kunz-m	ENSG00000163359		0.413	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	94	0	G	NM_004369		238242105	-1	tier1	rs112455407	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	12.50	56	8	SNP	0.001	A	A	238242105	G	A	238242105	3	1	167	1	0	0	0	0	1	0	0	0	3708	942	33	3	229	3	COL6A3	2	238242105	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	6975684	238242105	4957268	33	42039											
CBLB	868	genome.wustl.edu	37	chr3	105421182	105421182	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacatgatggatgtgtctaCtcagtctattgtctggtggg	7	14	12	8	0	4	1	1	1	3	0	4	2	4	2	1	3	1	0	1	3	2	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:105421182C>G	ENST00000264122.4	-	12	2036	c.1715G>C	c.(1714-1716)aGt>aCt	p.S572T	CBLB_ENST00000403724.1_Missense_Mutation_p.S572T|CBLB_ENST00000394027.3_Missense_Mutation_p.S594T|CBLB_ENST00000405772.1_Missense_Mutation_p.S572T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	572	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GATGTGTCTACTCAGTCTATT	0.527			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													100	87	91					3																	105421182		2203	4300	6503	SO:0001583	missense	0			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.1715G>C	3.37:g.105421182C>G	ENSP00000264122:p.Ser572Thr		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.S572T	ENST00000264122.4	37	c.1715	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311459	0.23821	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.83914	-1.76;-1.75;-1.78;-1.78	5.36	5.36	0.76844	.	0.205242	0.53938	D	0.000054	T	0.72558	0.3475	L	0.29908	0.895	0.80722	D	1	B;B;B	0.22146	0.039;0.065;0.039	B;B;B	0.19391	0.011;0.025;0.016	T	0.66775	-0.5838	9	.	.	.	-18.701	11.6997	0.51564	0.0:0.9184:0.0:0.0816	.	594;572;572	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	T	572;594;572;572	ENSP00000264122:S572T;ENSP00000377595:S594T;ENSP00000384816:S572T;ENSP00000384938:S572T	.	S	-	2	0	CBLB	106903872	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	3.391000	0.52530	2.485000	0.83878	0.404000	0.27445	AGT	CBLB	-	NULL	ENSG00000114423		0.527	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2		0	69	0	C	NM_170662		105421182	-1			no_errors	ENST00000264122	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.962	G	G	105421182	C	G	105421182	3	3	167	1	0	0	0	0	1	0	0	0	2708	565	20	5	1265	5	CBLB	3	105421182	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09		105421182	92601248	34	42040											
STXBP5L	9515	genome.wustl.edu	37	chr3	121100248	121100248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatggactcctttgcacGgaaaaatgactctaccatct	11	12	6	12	1	3	1	1	1	2	0	4	3	4	3	2	2	2	1	2	2	3	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:121100248G>A	ENST00000273666.6	+	23	2799	c.2528G>A	c.(2527-2529)cGg>cAg	p.R843Q	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R819Q|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R817Q|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R843Q|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R819Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	843					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)		TCCTTTGCACGGAAAAATGAC	0.393																																																	0													182	173	176					3																	121100248		1892	4113	6005	SO:0001583	missense	0			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.2528G>A	3.37:g.121100248G>A	ENSP00000273666:p.Arg843Gln		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.R843Q	ENST00000273666.6	37	c.2528	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.316497	0.95655	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13	5.1	5.1	0.69264	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.70267	-0.4919	10	0.62326	D	0.03	-10.9325	18.7084	0.91646	0.0:0.0:1.0:0.0	.	819;843	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	Q	843;819;819;817;843;786	ENSP00000273666:R843Q;ENSP00000420019:R819Q;ENSP00000419627:R819Q;ENSP00000420287:R817Q;ENSP00000420666:R843Q;ENSP00000420167:R786Q	ENSP00000273666:R843Q	R	+	2	0	STXBP5L	122582938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.369000	0.97156	2.660000	0.90430	0.650000	0.86243	CGG	STXBP5L	-	pfam_Lgl_C_dom	ENSG00000145087		0.393	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	-	0	121	0	G			121100248	1	tier1	-	no_errors	ENST00000273666	ensembl	human	known	74_37	missense	30.43	128	56	SNP	1.000	A	A	121100248	G	A	121100248	3	1	167	1	0	0	0	0	1	0	0	0	15404	1116	39	1	2614	1	STXBP5L	3	121100248	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	15679066	121100248	76922182	35	42041											
MYLK	4638	genome.wustl.edu	37	chr3	123333149	123333149	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctggaagtggcgggactcccTgattgactggtcatctttga	7	12	13	9	1	2	3	1	3	1	0	3	5	3	5	1	4	0	0	1	4	1	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:123333149T>C	ENST00000475616.1	-	31	5547	c.5548A>G	c.(5548-5550)Agg>Ggg	p.R1850G	MYLK_ENST00000578202.1_Missense_Mutation_p.R89G|MYLK_ENST00000583087.1_Missense_Mutation_p.R90G|MYLK_ENST00000418370.2_Missense_Mutation_p.R90G|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000359169.1_Missense_Mutation_p.R1799G|MYLK_ENST00000346322.5_Missense_Mutation_p.R1781G|MYLK_ENST00000360304.3_Missense_Mutation_p.R1850G|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360772.3_Missense_Mutation_p.R1799G|MYLK_ENST00000354792.5_Missense_Mutation_p.R650G			Q15746	MYLK_HUMAN	myosin light chain kinase	1850	Ig-like C2-type 9.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGGGACTCCCTGATTGACTGG	0.473																																																	0													104	103	103					3																	123333149		2203	4300	6503	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5548A>G	3.37:g.123333149T>C	ENSP00000418335:p.Arg1850Gly		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R1850G	ENST00000475616.1	37	c.5548	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640826	0.47153	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000418370;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.27	1.38	0.22167	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67126	0.2860	L	0.31664	0.95	0.35488	D	0.798739	P;D;P;P;P;B	0.54601	0.837;0.967;0.837;0.935;0.866;0.05	P;P;P;P;P;B	0.59115	0.637;0.852;0.637;0.755;0.752;0.008	T	0.72786	-0.4188	9	0.72032	D	0.01	.	12.0458	0.53479	0.0:0.0:0.4248:0.5752	.	1849;1730;1799;1781;1850;162	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746;Q05D81	.;.;.;.;MYLK_HUMAN;.	G	1799;1850;1799;90;1781;650;1850	ENSP00000354004:R1799G;ENSP00000353452:R1850G;ENSP00000352088:R1799G;ENSP00000428967:R90G;ENSP00000320622:R1781G;ENSP00000346846:R650G;ENSP00000418335:R1850G	ENSP00000320622:R1781G	R	-	1	2	MYLK	124815839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.710000	0.37920	0.079000	0.16929	0.528000	0.53228	AGG	MYLK	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000065534		0.473	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1		0	62	0	T	NM_053025		123333149	-1			no_errors	ENST00000360304	ensembl	human	known	74_37	missense	8.65	95	9	SNP	1.000	C	C	123333149	T	C	123333149	3	2	167	1	0	0	0	0	1	0	0	0	10094	1579	55	4	200	4	MYLK	3	123333149	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	2232901	123333149	74689281	36	42042											
IFT122	55764	genome.wustl.edu	37	chr3	129218827	129218827	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccagaaatatcaaggagcCcaaagccgccgtggagatgt	13	5	13	10	2	1	2	1	0	0	2	1	4	1	3	4	3	2	0	4	3	4	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:129218827C>A	ENST00000348417.2	+	19	2368	c.2291C>A	c.(2290-2292)cCc>cAc	p.P764H	IFT122_ENST00000504021.1_Missense_Mutation_p.P640H|IFT122_ENST00000507564.1_Missense_Mutation_p.P756H|IFT122_ENST00000440957.2_Missense_Mutation_p.P555H|IFT122_ENST00000347300.2_Missense_Mutation_p.P705H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000296266.3_Missense_Mutation_p.P815H|IFT122_ENST00000431818.2_Missense_Mutation_p.P614H|IFT122_ENST00000349441.2_Missense_Mutation_p.P653H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	764					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						ATCAAGGAGCCCAAAGCCGCC	0.507																																																	0													138	131	133					3																	129218827		2203	4300	6503	SO:0001583	missense	0			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.2291C>A	3.37:g.129218827C>A	ENSP00000324005:p.Pro764His		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P815H	ENST00000348417.2	37	c.2444	CCDS3061.1	3	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450881	0.63290	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.61627	0.75;0.09;0.23;0.27;0.85;0.88;0.73;0.3;0.88	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	L	0.52759	1.655	0.80722	D	1	D;D;D;P;P;B;B;P;D;D	0.89917	1.0;1.0;1.0;0.729;0.533;0.349;0.349;0.663;1.0;1.0	D;D;D;B;B;B;B;B;D;D	0.91635	0.999;0.997;0.997;0.316;0.188;0.143;0.143;0.346;0.998;0.999	T	0.64071	-0.6493	10	0.16420	T	0.52	-22.6318	18.4268	0.90612	0.0:1.0:0.0:0.0	.	555;90;756;151;640;604;653;705;764;815	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	705;815;756;705;614;640;653;764;604;555;261;126	ENSP00000323973:P705H;ENSP00000296266:P815H;ENSP00000425536:P756H;ENSP00000410946:P614H;ENSP00000422179:P640H;ENSP00000324165:P653H;ENSP00000324005:P764H;ENSP00000401569:P555H;ENSP00000424727:P261H	ENSP00000296266:P815H	P	+	2	0	IFT122	130701517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.549000	0.82163	2.338000	0.79540	0.655000	0.94253	CCC	IFT122	-	NULL	ENSG00000163913		0.507	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	-	0	87	0	C	NM_018262		129218827	1	tier1	-	no_errors	ENST00000296266	ensembl	human	known	74_37	missense	25.95	137	48	SNP	1.000	A	A	129218827	C	A	129218827	3	1	167	1	0	0	0	0	1	0	0	0	7582	623	22	3	2522	3	IFT122	3	129218827	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	5885678	129218827	68803603	37	42043											
MED12L	116931	genome.wustl.edu	37	chr3	150804748	150804748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttctcagctatgagcagaGaccgctgaagcgcccccggc	8	6	12	15	3	1	3	1	2	1	1	2	4	1	3	3	1	3	4	3	1	2	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:150804748G>A	ENST00000474524.1	+	1	73	c.35G>A	c.(34-36)aGa>aAa	p.R12K	MED12L_ENST00000309237.4_Missense_Mutation_p.R12K|MED12L_ENST00000273432.4_Missense_Mutation_p.R12K|MED12L_ENST00000422248.2_Missense_Mutation_p.R12K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	12						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)			TATGAGCAGAGACCGCTGAAG	0.662																																																	0													8	12	11					3																	150804748		2178	4282	6460	SO:0001583	missense	0			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.35G>A	3.37:g.150804748G>A	ENSP00000417235:p.Arg12Lys		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.R12K	ENST00000474524.1	37	c.35	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181328	0.78677	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.64260	0.2;0.08;0.14;-0.09	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000006	T	0.72890	0.3517	L	0.46741	1.465	0.31550	N	0.658832	D;P;D;D	0.56035	0.974;0.956;0.974;0.974	D;P;D;D	0.67725	0.953;0.899;0.953;0.953	T	0.77443	-0.2586	10	0.87932	D	0	-13.4618	16.1187	0.81325	0.0:0.0:1.0:0.0	.	12;12;12;12	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	K	12	ENSP00000403308:R12K;ENSP00000310760:R12K;ENSP00000417235:R12K;ENSP00000273432:R12K	ENSP00000273432:R12K	R	+	2	0	MED12L	152287438	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.230000	0.89793	2.075000	0.62263	0.655000	0.94253	AGA	MED12L	-	NULL	ENSG00000144893		0.662	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2		0	25	0	G	NM_053002		150804748	1			no_errors	ENST00000474524	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	150804748	G	A	150804748	3	1	167	1	0	0	0	0	1	0	0	0	9467	942	33	3	37	3	MED12L	3	150804748	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	21585921	150804748	47217682	38	42044											
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	106	0	G			178936091	1	tier1	rs104886003	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	17.31	172	36	SNP	1.000	A	A	178936091	G	A	178936091	3	1	167	1	0	0	0	0	1	0	0	0	11952	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	28131343	178936091	19086339	39	42045											
UTS2D	257313	genome.wustl.edu	37	chr3	190999931	190999931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaactcaacacggataaCaaagttaggagtccaaagca	21	5	7	8	1	1	0	1	0	0	0	2	2	2	2	1	2	4	2	1	2	8	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr3:190999931C>G	ENST00000340524.5	-	5	834	c.48G>C	c.(46-48)ttG>ttC	p.L16F	UTS2B_ENST00000427544.2_Missense_Mutation_p.L16F	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	16					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)											ACACGGATAACAAAGTTAGGA	0.388																																																	0													96	88	91					3																	190999931		2203	4300	6503	SO:0001583	missense	0			AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"Endogenous ligands"	30894	protein-coding gene	gene with protein product	"prepro-URP"		"urotensin 2 domain containing"	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.48G>C	3.37:g.190999931C>G	ENSP00000340526:p.Leu16Phe		B3KQY8|D3DNW1|Q2M1Z2	Missense_Mutation	SNP	NULL	p.L16F	ENST00000340524.5	37	c.48	CCDS3300.1	3	.	.	.	.	.	.	.	.	.	.	C	1.978	-0.434841	0.04669	.	.	ENSG00000188958	ENST00000340524;ENST00000427544;ENST00000432514	T;T;T	0.73681	0.4;0.4;-0.77	4.84	-0.247	0.13019	.	0.411138	0.19727	N	0.107456	T	0.59004	0.2162	L	0.52364	1.645	0.09310	N	1	B	0.21225	0.053	B	0.20184	0.028	T	0.46470	-0.9189	10	0.39692	T	0.17	-0.104	0.8032	0.01079	0.1681:0.3878:0.1635:0.2805	.	16	Q765I0	UTS2B_HUMAN	F	16	ENSP00000340526:L16F;ENSP00000398761:L16F;ENSP00000401028:L16F	ENSP00000340526:L16F	L	-	3	2	UTS2D	192482625	0.228000	0.23718	0.025000	0.17156	0.110000	0.19582	-0.093000	0.11111	0.043000	0.15746	0.655000	0.94253	TTG	UTS2B	-	NULL	ENSG00000188958		0.388	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2B	HGNC	protein_coding	OTTHUMT00000343353.1	-	0	100	0	C	NM_198152		190999931	-1	tier1	-	no_errors	ENST00000446788	ensembl	human	known	74_37	missense	5.68	166	10	SNP	0.011	G	G	190999931	C	G	190999931	3	3	167	1	0	0	0	0	1	0	0	0	17154	477	17	5	331	5	UTS2D	3	190999931	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	12063840	190999931	7022499	40	42046											
GPR125	166647	genome.wustl.edu	37	chr4	22390436	22390436	+	Frame_Shift_Del	DEL	T	T	-																															gttgctcctccgtgggctccTtaagctcatatttgcgctca																										TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:22390436delT	ENST00000334304.5	-	19	3127	c.2858delA	c.(2857-2859)aagfs	p.K953fs	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	953					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CGTGGGCTCCTTAAGCTCATA	0.423																																																	0													80	83	82					4																	22390436		2203	4300	6503	SO:0001589	frameshift_variant	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2858delA	4.37:g.22390436delT	ENSP00000334952:p.Lys953fs		Q6UXK9|Q86SQ5|Q8TC55	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.K953fs	ENST00000334304.5	37	c.2858	CCDS33964.1	4																																																																																			GPR125	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000152990		0.423	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3		0	63	0	T			22390436	-1	tier1		no_errors	ENST00000334304	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	1.000	-	-	22390436	T	-	22390436	7	5	167	1	0	1	0	1	0	0	0	0	6665	1609	56	0	1111	0	GPR125	4	22390436	Frame_Shift_Del	DEL	T	TCGA-VR-A8EW-01A-11D-A36J-09		22390436	168763840	41	42047											
SPATA18	132671	genome.wustl.edu	37	chr4	52917943	52917943	+	Silent	SNP	C	C	T	0	0	0	1	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	aggaaaagctagacttctggCtgaaggagtacaacgtgagt	14	8	13	6	1	1	3	0	2	1	1	1	5	1	5	0	3	3	3	0	3	6	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:52917943C>T	ENST00000295213.4	+	1	447	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Silent_p.L25L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	25					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGACTTCTGGCTGAAGGAGTA	0.537																																																	0													112	106	108					4																	52917943		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.73C>T	4.37:g.52917943C>T			B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	NULL	p.L25	ENST00000295213.4	37	c.73	CCDS3489.1	4																																																																																			SPATA18	-	NULL	ENSG00000163071		0.537	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA18	HGNC	protein_coding	OTTHUMT00000250597.2	-	0	161	0	C	NM_145263		52917943	1	tier1	-	no_errors	ENST00000295213	ensembl	human	known	74_37	silent	27.50	58	22	SNP	0.132	T	T	52917943	C	T	52917943	2	4	167	1	0	0	0	0	0	0	0	1	15050	796	28	3		3	SPATA18	4	52917943	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	30527507	52917943	138236333	42	42048											
UTP3	57050	genome.wustl.edu	37	chr4	71554831	71554832	+	Missense_Mutation	DNP	GA	GA	AT																															ggactatggttccaagtcccGaggccggcagagtcaacagg																										TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:71554831_71554832GA>AT	ENST00000254803.2	+	1	636_637	c.437_438GA>AT	c.(436-438)cGA>cAT	p.R146H		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	146	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TCCAAGTCCCGAGGCCGGCAGA	0.564																																																	0																																										SO:0001583	missense	0			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	Exception_encountered	4.37:g.71554831_71554832delinsAT	ENSP00000254803:p.Arg146His		Q6FI82	Missense_Mutation|Silent	SNP	pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D	p.R146Q|p.R146	ENST00000254803.2	37	c.437|c.438	CCDS3546.1	4																																																																																			UTP3	-	NULL	ENSG00000132467		0.564	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP3	HGNC	protein_coding	OTTHUMT00000252163.2	-	0	44|43	0	G|A	NM_020368		71554831|71554832	1	tier1	-	no_errors	ENST00000254803	ensembl	human	known	74_37	missense|silent	23.21|24.56	43	13|14	SNP	0.600|0.480	A|T	AT	71554832	GA	AT	71554831	3	1	167	1	0	0	0	0	1	0	0	0	17150	1058	37	1	439	1	UTP3	4	71554831	Missense_Mutation	DNP	GA	TCGA-VR-A8EW-01A-11D-A36J-09	18636888	71554831	119599445	43	42049											
AFF1	4299	genome.wustl.edu	37	chr4	88029349	88029349	+	Missense_Mutation	SNP	A	A	G	1	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	agaaccagtggcatcagcacAttccagcagtgcagagtcag	13	6	11	11	0	2	2	2	0	0	2	3	2	3	2	2	1	4	4	2	1	1	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:88029349A>G	ENST00000307808.6	+	10	1814	c.1394A>G	c.(1393-1395)cAt>cGt	p.H465R	AFF1_ENST00000544085.1_Missense_Mutation_p.H103R|AFF1_ENST00000395146.4_Missense_Mutation_p.H472R	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	465					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)		GCATCAGCACATTCCAGCAGT	0.483																																																	0													118	106	110					4																	88029349		2203	4300	6503	SO:0001583	missense	0			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.1394A>G	4.37:g.88029349A>G	ENSP00000305689:p.His465Arg		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.H472R	ENST00000307808.6	37	c.1415	CCDS3616.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.04|17.04	3.287903|3.287903	0.59976|0.59976	.|.	.|.	ENSG00000172493|ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970|ENST00000541943	T;T;T;T;T|.	0.61859|.	0.07;0.07;0.07;0.07;0.07|.	5.5|5.5	4.32|4.32	0.51571|0.51571	.|.	0.347798|.	0.29198|.	N|.	0.012857|.	T|T	0.61677|0.61677	0.2366|0.2366	M|M	0.63428|0.63428	1.95|1.95	0.53005|0.53005	D|D	0.999961|0.999961	B;B;B|.	0.33477|.	0.413;0.413;0.413|.	B;B;B|.	0.36186|.	0.219;0.219;0.219|.	T|T	0.56426|0.56426	-0.7981|-0.7981	10|6	0.16896|0.22109	T|T	0.51|0.4	-16.6264|-16.6264	11.4184|11.4184	0.49967|0.49967	0.9293:0.0:0.0707:0.0|0.9293:0.0:0.0707:0.0	.|.	472;465;465|.	E9PBM3;Q14C88;P51825|.	.;.;AFF1_HUMAN|.	R|V	472;465;103;103;156|125	ENSP00000378578:H472R;ENSP00000305689:H465R;ENSP00000424766:H103R;ENSP00000440843:H103R;ENSP00000424881:H156R|.	ENSP00000305689:H465R|ENSP00000446349:I125V	H|I	+|+	2|1	0|0	AFF1|AFF1	88248373|88248373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	2.482000|2.482000	0.45224|0.45224	1.027000|1.027000	0.39758|0.39758	0.533000|0.533000	0.62120|0.62120	CAT|ATT	AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.483	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	-	0	60	0	A	NM_005935		88029349	1	tier1	-	no_errors	ENST00000395146	ensembl	human	known	74_37	missense	60.00	32	48	SNP	1.000	G	G	88029349	A	G	88029349	3	3	167	1	0	0	0	0	1	0	0	0	356	217	8	4	1474	4	AFF1	4	88029349	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	16474518	88029349	103124927	44	42050											
GRID2	2895	genome.wustl.edu	37	chr4	94128579	94128579	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagactaatttggttgctTttgactgtcactggatcatt	8	17	10	6	0	2	2	2	1	0	1	2	4	2	3	0	3	1	2	0	3	1	6			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:94128579T>C	ENST00000282020.4	+	5	1018	c.760T>C	c.(760-762)Ttt>Ctt	p.F254L	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.F159L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	254					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)		TTTGGTTGCTTTTGACTGTCA	0.318																																																	0													239	220	227					4																	94128579		2203	4300	6503	SO:0001583	missense	0			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.760T>C	4.37:g.94128579T>C	ENSP00000282020:p.Phe254Leu		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F254L	ENST00000282020.4	37	c.760	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053228	0.55218	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.82619	-1.63;-1.63	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86058	0.5842	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.53885	0.963;0.963	D;D	0.67231	0.95;0.95	D	0.87302	0.2306	10	0.59425	D	0.04	.	16.2237	0.82280	0.0:0.0:0.0:1.0	.	159;254	E9PH24;O43424	.;GRID2_HUMAN	L	254;159	ENSP00000282020:F254L;ENSP00000421257:F159L	ENSP00000282020:F254L	F	+	1	0	GRID2	94347602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.794000	0.75135	2.289000	0.77006	0.482000	0.46254	TTT	GRID2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152208		0.318	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	-	0	123	0	T			94128579	1	tier1	-	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	10.75	83	10	SNP	1.000	C	C	94128579	T	C	94128579	3	2	167	1	0	0	0	0	1	0	0	0	6799	1841	64	4	778	4	GRID2	4	94128579	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	6099230	94128579	97025697	45	42051											
PDHA2	5161	genome.wustl.edu	37	chr4	96762268	96762268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taattctccaagatagaatgGtaaacagcaagctcgccact	15	9	7	10	1	1	2	0	0	1	2	3	2	1	2	2	1	3	3	2	1	7	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:96762268G>T	ENST00000295266.4	+	1	1030	c.967G>T	c.(967-969)Gta>Tta	p.V323L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	323					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AGATAGAATGGTAAACAGCAA	0.423																																																	0													84	82	82					4																	96762268		2203	4300	6503	SO:0001583	missense	0				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.967G>T	4.37:g.96762268G>T	ENSP00000295266:p.Val323Leu		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.V323L	ENST00000295266.4	37	c.967	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.119935	0.00346	.	.	ENSG00000163114	ENST00000295266	D	0.95918	-3.85	4.73	0.248	0.15526	Dehydrogenase, E1 component (1);	0.319538	0.30201	N	0.010161	T	0.77082	0.4078	N	0.01277	-0.915	0.21499	N	0.999663	B	0.02656	0.0	B	0.06405	0.002	T	0.70757	-0.4785	10	0.02654	T	1	-24.5487	0.4706	0.00531	0.2296:0.1495:0.3155:0.3054	.	323	P29803	ODPAT_HUMAN	L	323	ENSP00000295266:V323L	ENSP00000295266:V323L	V	+	1	0	PDHA2	96981291	1.000000	0.71417	0.012000	0.15200	0.365000	0.29674	0.891000	0.28309	-0.088000	0.12506	-0.373000	0.07131	GTA	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	ENSG00000163114		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	-	0	76	0	G			96762268	1	tier1	-	no_errors	ENST00000295266	ensembl	human	known	74_37	missense	24.14	44	14	SNP	0.314	T	T	96762268	G	T	96762268	3	4	167	1	0	0	0	0	1	0	0	0	11704	1261	44	3	969	3	PDHA2	4	96762268	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	2633689	96762268	94392008	46	42052											
SLC39A8	64116	genome.wustl.edu	37	chr4	103236927	103236927	+	Missense_Mutation	SNP	T	T	C	0	1	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	gatgacagagaatttggagcTggttatttgggtagcatttg	10	14	14	3	0	0	2	0	1	0	1	0	5	0	3	0	3	2	4	0	3	3	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:103236927T>C	ENST00000394833.2	-	2	756	c.280A>G	c.(280-282)Agc>Ggc	p.S94G	SLC39A8_ENST00000424970.2_Missense_Mutation_p.S94G|SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Missense_Mutation_p.S94G	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	94					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AATTTGGAGCTGGTTATTTGG	0.378																																																	0													150	149	150					4																	103236927		2203	4300	6503	SO:0001583	missense	0				CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.280A>G	4.37:g.103236927T>C	ENSP00000378310:p.Ser94Gly		B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	pfam_ZIP	p.S94G	ENST00000394833.2	37	c.280	CCDS3656.1	4	.	.	.	.	.	.	.	.	.	.	T	13.30	2.194607	0.38806	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.71461	-0.42;-0.57;-0.57	5.36	5.36	0.76844	.	0.266218	0.40222	N	0.001159	T	0.59595	0.2205	L	0.41236	1.265	0.30399	N	0.780178	B;B;B	0.34241	0.444;0.004;0.001	B;B;B	0.28011	0.085;0.005;0.007	T	0.60606	-0.7230	10	0.25751	T	0.34	-24.4203	14.5362	0.67963	0.0:0.0:0.0:1.0	.	94;94;27	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	G	94	ENSP00000394548:S94G;ENSP00000349174:S94G;ENSP00000378310:S94G	ENSP00000349174:S94G	S	-	1	0	SLC39A8	103455950	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	1.745000	0.38278	2.034000	0.60081	0.482000	0.46254	AGC	SLC39A8	-	NULL	ENSG00000138821		0.378	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A8	HGNC	protein_coding	OTTHUMT00000253798.1	-	0	144	0	T	NM_022154		103236927	-1	tier1	-	no_errors	ENST00000356736	ensembl	human	known	74_37	missense	55.43	40	51	SNP	1.000	C	C	103236927	T	C	103236927	3	2	167	1	0	0	0	0	1	0	0	0	14669	1580	55	4	1207	4	SLC39A8	4	103236927	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	6474659	103236927	87917349	47	42053											
MFAP3L	9848	genome.wustl.edu	37	chr4	170912904	170912904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttggggattgtgtagacCtcatccctgtctgcggcctc	5	12	13	11	1	2	1	1	0	1	1	4	3	3	2	3	3	1	2	3	3	1	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:170912904C>G	ENST00000361618.3	-	3	1162	c.855G>C	c.(853-855)gaG>gaC	p.E285D	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.E182D	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	285						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)		TTGTGTAGACCTCATCCCTGT	0.582																																																	0													55	54	54					4																	170912904		2203	4300	6503	SO:0001583	missense	0			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.855G>C	4.37:g.170912904C>G	ENSP00000354583:p.Glu285Asp		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E285D	ENST00000361618.3	37	c.855	CCDS34103.1	4	.	.	.	.	.	.	.	.	.	.	C	5.966	0.362283	0.11296	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.98060	-4.69;-1.7	5.53	2.72	0.32119	.	0.091491	0.85682	D	0.000000	D	0.92685	0.7675	L	0.32530	0.975	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	D	0.84752	0.0757	10	0.15952	T	0.53	-7.8483	4.2167	0.10539	0.1295:0.6036:0.1256:0.1413	.	285	O75121	MFA3L_HUMAN	D	182;285	ENSP00000377307:E182D;ENSP00000354583:E285D	ENSP00000354583:E285D	E	-	3	2	MFAP3L	171149479	0.994000	0.37717	0.993000	0.49108	0.651000	0.38670	0.878000	0.28126	0.699000	0.31761	0.650000	0.86243	GAG	MFAP3L	-	NULL	ENSG00000198948		0.582	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3L	HGNC	protein_coding	OTTHUMT00000363043.2		0	32	0	C	NM_021647		170912904	-1			no_errors	ENST00000361618	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G	G	170912904	C	G	170912904	3	3	167	1	0	0	0	0	1	0	0	0	9554	680	24	5	378	5	MFAP3L	4	170912904	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	67675977	170912904	20241372	48	42054											
DCTD	1635	genome.wustl.edu	37	chr4	183815663	183815663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggatgatgagcttagCgcattcattacaagggaaca	12	10	11	8	1	1	2	1	2	0	0	1	4	1	4	1	2	5	2	1	2	4	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr4:183815663C>T	ENST00000438320.2	-	4	630	c.340G>A	c.(340-342)Gct>Act	p.A114T	DCTD_ENST00000510370.1_Missense_Mutation_p.A114T|DCTD_ENST00000357067.3_Missense_Mutation_p.A125T	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	114					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)	p.A114T(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	ATGAGCTTAGCGCATTCATTA	0.468																																																	1	Substitution - Missense(1)	endometrium(1)											167	132	144					4																	183815663		2203	4300	6503	SO:0001583	missense	0			L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.340G>A	4.37:g.183815663C>T	ENSP00000398194:p.Ala114Thr		B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase	p.A125T	ENST00000438320.2	37	c.373	CCDS3831.1	4	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508118	0.64410	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182;ENST00000510307;ENST00000512766	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.53	4.68	0.58851	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.987	P;P;P;P	0.62298	0.884;0.9;0.629;0.681	T	0.58853	-0.7563	10	0.44086	T	0.13	-4.8643	14.7527	0.69540	0.0:0.9293:0.0:0.0707	.	114;55;125;114	D6RBJ9;B4DDC2;P32321-2;P32321	.;.;.;DCTD_HUMAN	T	125;114;114;114;114;114	ENSP00000349576:A125T;ENSP00000398194:A114T;ENSP00000424017:A114T;ENSP00000422662:A114T;ENSP00000424050:A114T;ENSP00000423182:A114T	ENSP00000349576:A125T	A	-	1	0	DCTD	184052657	1.000000	0.71417	0.988000	0.46212	0.261000	0.26267	7.776000	0.85560	2.602000	0.87976	0.650000	0.86243	GCT	DCTD	-	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase	ENSG00000129187		0.468	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTD	HGNC	protein_coding	OTTHUMT00000361743.2	-	0	108	0	C			183815663	-1	tier1	-	no_errors	ENST00000357067	ensembl	human	known	74_37	missense	19.28	67	16	SNP	1.000	T	T	183815663	C	T	183815663	3	4	167	1	0	0	0	0	1	0	0	0	4314	768	27	1	208	1	DCTD	4	183815663	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	12902759	183815663	7338613	49	42055											
SPEF2	79925	genome.wustl.edu	37	chr5	35709102	35709102	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaagcagcagcttccctGgctgagcttccacttcctac	11	9	7	14	0	0	1	0	1	0	0	3	1	3	1	3	1	5	5	3	1	4	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:35709102G>T	ENST00000356031.3	+	19	2872	c.2718G>T	c.(2716-2718)ctG>ctT	p.L906L	SPEF2_ENST00000509059.1_Silent_p.L901L|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Silent_p.L901L	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	906					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)			CAGCTTCCCTGGCTGAGCTTC	0.423																																																	0													71	70	70					5																	35709102		1875	4106	5981	SO:0001819	synonymous_variant	0			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.2718G>T	5.37:g.35709102G>T			Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.L906	ENST00000356031.3	37	c.2718	CCDS43309.1	5																																																																																			SPEF2	-	NULL	ENSG00000152582		0.423	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	75	0	G	NM_144722		35709102	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.000	T	T	35709102	G	T	35709102	2	4	167	1	0	0	0	0	0	0	0	1	15082	1335	47	3		3	SPEF2	5	35709102	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09		35709102	145206158	50	42056											
MAP3K1	4214	genome.wustl.edu	37	chr5	56152526	56152526	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	aaactgaaggcaacctgtatGccagcctggaagcacgaatg	14	6	11	10	1	0	1	0	1	0	0	0	3	0	2	3	2	5	3	3	2	6	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:56152526G>A	ENST00000399503.3	+	2	582	c.582G>A	c.(580-582)atG>atA	p.M194I	snoU13_ENST00000459264.1_RNA|AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	194					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)		CAACCTGTATGCCAGCCTGGA	0.473																																																	0													129	132	131					5																	56152526		1921	4123	6044	SO:0001583	missense	0			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.582G>A	5.37:g.56152526G>A	ENSP00000382423:p.Met194Ile			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.M194I	ENST00000399503.3	37	c.582	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986633	0.93106	.	.	ENSG00000095015	ENST00000399503	T	0.72282	-0.64	5.62	4.74	0.60224	.	0.042518	0.85682	N	0.000000	T	0.61451	0.2348	L	0.29908	0.895	0.58432	D	0.999996	B	0.09022	0.002	B	0.08055	0.003	T	0.58797	-0.7573	10	0.59425	D	0.04	.	16.0977	0.81139	0.0:0.0:0.8649:0.1351	.	194	Q13233	M3K1_HUMAN	I	194	ENSP00000382423:M194I	ENSP00000382423:M194I	M	+	3	0	MAP3K1	56188283	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.325000	0.90007	1.469000	0.48083	0.650000	0.86243	ATG	MAP3K1	-	NULL	ENSG00000095015		0.473	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	-	0	85	0	G	XM_042066		56152526	1	tier1	-	no_errors	ENST00000399503	ensembl	human	novel	74_37	missense	26.15	48	17	SNP	1.000	A	A	56152526	G	A	56152526	3	1	167	1	0	0	0	0	1	0	0	0	9281	1319	46	3	588	3	MAP3K1	5	56152526	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	20443424	56152526	124762734	51	42057											
LNPEP	4012	genome.wustl.edu	37	chr5	96339190	96339190	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacatgctgttgtcctttaCctgcataatcacagctatgc	10	13	6	12	0	1	0	1	0	0	0	2	0	2	0	2	0	6	4	2	0	4	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:96339190C>T	ENST00000231368.5	+	9	2417	c.1725C>T	c.(1723-1725)taC>taT	p.Y575Y	LNPEP_ENST00000395770.3_Silent_p.Y561Y	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	575					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTGTCCTTTACCTGCATAATC	0.338																																																	0													178	164	169					5																	96339190		2203	4300	6503	SO:0001819	synonymous_variant	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1725C>T	5.37:g.96339190C>T			O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Y575	ENST00000231368.5	37	c.1725	CCDS4087.1	5																																																																																			LNPEP	-	NULL	ENSG00000113441		0.338	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	-	0	65	0	C	NM_005575		96339190	1	tier1	-	no_errors	ENST00000231368	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T	T	96339190	C	T	96339190	2	4	167	1	0	0	0	0	0	0	0	1	8894	518	18	3		3	LNPEP	5	96339190	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	40186664	96339190	84576070	52	42058											
PCDHA8	56142	genome.wustl.edu	37	chr5	140223323	140223323	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtccatttaaatttagaaCtcataaattctatttgtgga	15	16	5	5	0	2	1	1	0	1	1	3	2	3	2	1	1	1	0	1	1	8	8			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:140223323C>A	ENST00000529310.1	+	1	2508				PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.T806N|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_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						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)			AAATTTAGAACTCATAAATTC	0.323																																																	0													33	36	35					5																	140223323		2190	4259	6449	SO:0001627	intron_variant	0			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.2394+13253C>A	5.37:g.140223323C>A			O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T806N	ENST00000529310.1	37	c.2417	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	C	7.795	0.712383	0.15306	.	.	ENSG00000204962	ENST00000378123	T	0.50548	0.74	3.11	-6.23	0.02052	.	.	.	.	.	T	0.17746	0.0426	N	0.08118	0	0.09310	N	1	B	0.23128	0.08	B	0.21917	0.037	T	0.18745	-1.0327	8	.	.	.	.	1.0337	0.01543	0.4432:0.1057:0.2114:0.2397	.	806	Q9Y5H6-2	.	N	806	ENSP00000367363:T806N	.	T	+	2	0	PCDHA8	140203507	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.425000	0.07017	-1.081000	0.03105	-0.384000	0.06662	ACT	PCDHA8	-	NULL	ENSG00000204962		0.323	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372829.3	-	0	103	0	C	NM_018909		140223323	1	tier1	-	no_errors	ENST00000378123	ensembl	human	known	74_37	missense	41.10	43	30	SNP	0.000	A	A	140223323	C	A	140223323	1	1	167	0	1	0	0	0	0	0	0	0	11569	565	20	3		3	PCDHA8	5	140223323	Intron	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	43884133	140223323	40691937	53	42059											
GNPDA1	10007	genome.wustl.edu	37	chr5	141385743	141385743	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatcccacctgcagccttGatcttctcttcaaaggcatc	8	12	6	15	1	3	1	1	1	2	0	7	2	4	1	3	1	2	2	3	1	1	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:141385743G>T	ENST00000508177.1	-	3	1133	c.375C>A	c.(373-375)atC>atA	p.I125I	GNPDA1_ENST00000311337.6_Silent_p.I125I|GNPDA1_ENST00000513454.1_Silent_p.I125I|GNPDA1_ENST00000503794.1_Silent_p.I125I|GNPDA1_ENST00000500692.2_Silent_p.I125I|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000458112.2_Silent_p.I91I			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	125					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGCCTTGATCTTCTCTT	0.512																																																	0													248	208	221					5																	141385743		2203	4300	6503	SO:0001819	synonymous_variant	0			AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"glucosamine-6-phosphate deaminase", "oscillin"	601798	"glucosamine-6-phosphate isomerase"	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.375C>A	5.37:g.141385743G>T			B7Z3X4|D3DQE7	Silent	SNP	pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase	p.I125	ENST00000508177.1	37	c.375	CCDS4272.1	5																																																																																			GNPDA1	-	pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase	ENSG00000113552		0.512	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPDA1	HGNC	protein_coding	OTTHUMT00000370631.1	-	0	55	0	G	NM_005471		141385743	-1	tier1	-	no_errors	ENST00000311337	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.987	T	T	141385743	G	T	141385743	2	4	167	1	0	0	0	0	0	0	0	1	6568	1280	45	3		3	GNPDA1	5	141385743	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	1162420	141385743	39529517	54	42060											
PDLIM7	9260	genome.wustl.edu	37	chr5	176919672	176919672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgccgctttgcccccagGagtgagctgtggagagagaa	8	7	15	11	2	0	3	0	1	0	2	0	6	0	4	3	2	3	2	3	2	1	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr5:176919672G>T	ENST00000355841.2	-	3	169	c.103C>A	c.(103-105)Cct>Act	p.P35T	PDLIM7_ENST00000359895.2_Missense_Mutation_p.P35T|PDLIM7_ENST00000393551.1_Missense_Mutation_p.P35T|RP11-1334A24.6_ENST00000506025.1_RNA|PDLIM7_ENST00000356618.4_Missense_Mutation_p.P35T|PDLIM7_ENST00000355572.2_Missense_Mutation_p.P35T	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	35	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	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)			TTGCCCCCAGGAGTGAGCTGT	0.627																																																	0													48	52	51					5																	176919672		2203	4300	6503	SO:0001583	missense	0			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.103C>A	5.37:g.176919672G>T	ENSP00000348099:p.Pro35Thr		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.P35T	ENST00000355841.2	37	c.103	CCDS4422.1	5	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724391	0.89298	.	.	ENSG00000196923	ENST00000359895;ENST00000356618;ENST00000355841;ENST00000393551;ENST00000505074;ENST00000355572;ENST00000393546;ENST00000506161;ENST00000506537	T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.46	4.46	0.54185	PDZ/DHR/GLGF (4);	0.090805	0.41001	D	0.000976	T	0.67730	0.2924	M	0.81682	2.555	0.80722	D	1	B;D;P;P	0.53885	0.017;0.963;0.877;0.947	B;P;P;P	0.59825	0.089;0.864;0.72;0.634	T	0.74705	-0.3575	10	0.72032	D	0.01	.	17.09	0.86619	0.0:0.0:1.0:0.0	.	35;35;35;35	Q9NR12-6;Q9NR12-4;Q9NR12;Q9NR12-2	.;.;PDLI7_HUMAN;.	T	35	ENSP00000352964:P35T;ENSP00000349030:P35T;ENSP00000348099:P35T;ENSP00000377182:P35T;ENSP00000426213:P35T;ENSP00000347776:P35T;ENSP00000377177:P35T;ENSP00000424850:P35T;ENSP00000421664:P35T	ENSP00000347776:P35T	P	-	1	0	PDLIM7	176852278	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	9.699000	0.98703	2.022000	0.59522	0.491000	0.48974	CCT	PDLIM7	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000196923		0.627	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	-	0	27	0	G	NM_005451		176919672	-1	tier1	-	no_errors	ENST00000355841	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.998	T	T	176919672	G	T	176919672	3	4	167	1	0	0	0	0	1	0	0	0	11723	1174	41	3	1436	3	PDLIM7	5	176919672	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	35533929	176919672	3995588	55	42061											
GNL1	2794	genome.wustl.edu	37	chr6	30522353	30522353	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttatccctagtactcactGgatgtcggatatcagtgata	10	13	8	10	1	2	1	2	1	0	0	4	3	3	3	2	2	1	1	2	2	5	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:30522353G>T	ENST00000376621.3	-	5	1569	c.599C>A	c.(598-600)cCa>cAa	p.P200Q	PRR3_ENST00000376560.3_5'Flank|PRR3_ENST00000376557.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	200	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGTACTCACTGGATGTCGGAT	0.493																																																	0													115	121	119					6																	30522353		1509	2709	4218	SO:0001630	splice_region_variant	0				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.600+1C>A	6.37:g.30522353G>T			B0S838|Q96CT5	Missense_Mutation	SNP	pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.P200Q	ENST00000376621.3	37	c.599	CCDS4680.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649774	0.87958	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126;ENST00000433809	T;T	0.16324	2.35;2.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.49457	0.1558	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.993;0.996	T	0.61831	-0.6982	10	0.87932	D	0	-36.1259	18.9061	0.92462	0.0:0.0:1.0:0.0	.	198;62;200	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	Q	200;22;62;198	ENSP00000365806:P200Q;ENSP00000404728:P198Q	ENSP00000365806:P200Q	P	-	2	0	GNL1	30630332	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.463000	0.73530	2.765000	0.95021	0.655000	0.94253	CCA	GNL1	-	superfamily_P-loop_NTPase	ENSG00000204590		0.493	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	HGNC	protein_coding	OTTHUMT00000076241.2	-	0	83	0	G		Missense_Mutation	30522353	-1	tier1	-	no_errors	ENST00000376621	ensembl	human	known	74_37	missense	15.29	72	13	SNP	1.000	T	T	30522353	G	T	30522353	5	4	167	1	0	0	0	0	0	0	1	0	6561	1362	47	3	1256	3	GNL1	6	30522353	Splice_Site	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09		30522353	140592714	56	42062											
TREML2	79865	genome.wustl.edu	37	chr6	41168696	41168696	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccttctcccctcacctgaGacgcaaccctgtggccacag	7	7	7	20	1	2	1	1	1	1	1	3	2	2	1	7	1	1	1	7	1	1	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:41168696G>A	ENST00000483722.1	-	1	236	c.51C>T	c.(49-51)gtC>gtT	p.V17V		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	17					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)					CCTCACCTGAGACGCAACCCT	0.607																																																	0													23	24	24					6																	41168696		2203	4300	6503	SO:0001819	synonymous_variant	0			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.51C>T	6.37:g.41168696G>A			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like_dom	p.V17	ENST00000483722.1	37	c.51	CCDS4853.2	6																																																																																			TREML2	-	NULL	ENSG00000112195		0.607	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREML2	HGNC	protein_coding	OTTHUMT00000043756.3	-	0	95	0	G	NM_024807		41168696	-1	tier1	-	no_errors	ENST00000483722	ensembl	human	known	74_37	silent	14.71	58	10	SNP	0.691	A	A	41168696	G	A	41168696	2	1	167	1	0	0	0	0	0	0	0	1	16521	929	33	3		3	TREML2	6	41168696	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	10646343	41168696	129946371	57	42063											
TTBK1	84630	genome.wustl.edu	37	chr6	43230870	43230870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcggcggcggctgggggcaGagcccaccgtccggccccgg	4	2	19	16	6	0	1	0	0	0	1	1	1	1	1	5	7	2	2	5	7	0	0			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:43230870G>C	ENST00000259750.4	+	13	1851	c.1768G>C	c.(1768-1770)Gag>Cag	p.E590Q	TTBK1_ENST00000304139.5_Missense_Mutation_p.E539Q	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	590					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)			GCTGGGGGCAGAGCCCACCGT	0.746																																																	0													8	10	9					6																	43230870		2120	4088	6208	SO:0001583	missense	0			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.1768G>C	6.37:g.43230870G>C	ENSP00000259750:p.Glu590Gln		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E590Q	ENST00000259750.4	37	c.1768	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903378	0.33628	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.28069	1.63	5.48	5.48	0.80851	.	0.287181	0.31577	N	0.007413	T	0.13200	0.0320	L	0.29908	0.895	0.20074	N	0.999932	P;P	0.49185	0.701;0.92	B;B	0.41374	0.179;0.355	T	0.06499	-1.0823	10	0.34782	T	0.22	.	16.2758	0.82642	0.0:0.0:1.0:0.0	.	113;590	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	Q	539;590;539	ENSP00000259750:E590Q	ENSP00000259750:E590Q	E	+	1	0	TTBK1	43338848	1.000000	0.71417	0.092000	0.20876	0.329000	0.28539	8.546000	0.90661	2.584000	0.87258	0.561000	0.74099	GAG	TTBK1	-	NULL	ENSG00000146216		0.746	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	-	0	19	0	G			43230870	1	tier1	-	no_errors	ENST00000259750	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.324	C	C	43230870	G	C	43230870	3	2	167	1	0	0	0	0	1	0	0	0	16725	943	33	5	1814	5	TTBK1	6	43230870	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	2062174	43230870	127884197	58	42064											
C6orf57	135154	genome.wustl.edu	37	chr6	71289168	71289168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaagttcttctcaaggagGaaagtctgaacttgtcaaac	15	10	8	8	0	4	1	2	1	3	0	5	3	4	3	0	2	3	1	0	2	6	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:71289168G>A	ENST00000370474.3	+	2	140	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_145267.2	NP_660310.2	Q5VUM1	SDHF4_HUMAN	chromosome 6 open reading frame 57	39					innate immune response (GO:0045087)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)				kidney(1)|lung(1)|skin(1)	3						TCTCAAGGAGGAAAGTCTGAA	0.418																																																	0													107	106	106					6																	71289168		2203	4300	6503	SO:0001583	missense	0			BC018085	CCDS4972.1	6q12	2011-12-13			ENSG00000154079	ENSG00000154079			20957	protein-coding gene	gene with protein product							Standard	NM_145267		Approved		uc003pfq.1	Q5VUM1	OTTHUMG00000014992	ENST00000370474.3:c.116G>A	6.37:g.71289168G>A	ENSP00000359505:p.Gly39Glu		E1P532	Missense_Mutation	SNP	pfam_DUF1674	p.G39E	ENST00000370474.3	37	c.116	CCDS4972.1	6	.	.	.	.	.	.	.	.	.	.	G	1.304	-0.604054	0.03717	.	.	ENSG00000154079	ENST00000370474	T	0.28255	1.62	5.82	-0.137	0.13469	.	0.351430	0.31772	N	0.007089	T	0.04407	0.0121	N	0.14661	0.345	0.22819	N	0.998694	B	0.16166	0.016	B	0.15484	0.013	T	0.44697	-0.9311	10	0.09843	T	0.71	0.1593	10.4475	0.44503	0.4679:0.0:0.5321:0.0	.	39	Q5VUM1	CF057_HUMAN	E	39	ENSP00000359505:G39E	ENSP00000359505:G39E	G	+	2	0	C6orf57	71345889	0.994000	0.37717	0.119000	0.21687	0.503000	0.33858	0.342000	0.19926	-0.089000	0.12484	-0.234000	0.12200	GGA	C6orf57	-	NULL	ENSG00000154079		0.418	C6orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf57	HGNC	protein_coding	OTTHUMT00000041140.1	-	0	123	0	G	NM_145267		71289168	1	tier1	-	no_errors	ENST00000370474	ensembl	human	known	74_37	missense	34.29	69	36	SNP	0.300	A	A	71289168	G	A	71289168	3	1	167	1	0	0	0	0	1	0	0	0	2373	1174	41	3	122	3	C6orf57	6	71289168	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	28058298	71289168	99825899	59	42065											
IRAK1BP1	134728	genome.wustl.edu	37	chr6	79577392	79577392	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctcagggagagagacGctaccgggcttacgccaccc	8	5	13	15	3	1	2	1	0	0	2	1	4	1	2	4	3	2	2	4	3	2	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:79577392G>T	ENST00000369940.2	+	1	204	c.99G>T	c.(97-99)acG>acT	p.T33T		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	33	Intrinsically disordered.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		GGAGAGAGACGCTACCGGGCT	0.622																																																	0													63	63	63					6																	79577392		2203	4300	6503	SO:0001819	synonymous_variant	0			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.99G>T	6.37:g.79577392G>T				Silent	SNP	pfam_DUF541	p.T33	ENST00000369940.2	37	c.99	CCDS34488.1	6																																																																																			IRAK1BP1	-	NULL	ENSG00000146243		0.622	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1BP1	HGNC	protein_coding	OTTHUMT00000041296.2	-	0	120	0	G	XM_059729		79577392	1	tier1	-	no_errors	ENST00000369940	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.001	T	T	79577392	G	T	79577392	2	4	167	1	0	0	0	0	0	0	0	1	7849	1074	38	2		2	IRAK1BP1	6	79577392	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	8288224	79577392	91537675	60	42066											
ESR1	2099	genome.wustl.edu	37	chr6	152265535	152265535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccccgatactctattccGagtatgatcctaccagaccc	10	9	6	16	2	1	2	0	1	1	1	3	4	3	2	6	0	3	1	6	0	4	5	rs571716552		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:152265535G>A	ENST00000206249.3	+	4	1350	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ESR1_ENST00000406599.1_Intron|ESR1_ENST00000427531.2_Missense_Mutation_p.E157K|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000440973.1_Missense_Mutation_p.E330K|ESR1_ENST00000443427.1_Missense_Mutation_p.E330K|ESR1_ENST00000338799.5_Missense_Mutation_p.E330K	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	330	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	ACTCTATTCCGAGTATGATCC	0.537													G|||	1	0.000199681	0	0	5008	,	,		16226	0		0.001	False		,,,				2504	0																0													111	103	106					6																	152265535		2203	4300	6503	SO:0001583	missense	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.988G>A	6.37:g.152265535G>A	ENSP00000206249:p.Glu330Lys		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E330K	ENST00000206249.3	37	c.988	CCDS5234.1	6	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524611	0.44969	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394	D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12	5.66	5.66	0.87406	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.214512	0.49305	D	0.000156	D	0.92580	0.7643	N	0.12746	0.255	0.46044	D	0.998835	B;B;D;P;B;B	0.57571	0.343;0.068;0.98;0.549;0.091;0.111	B;B;P;B;B;B	0.51615	0.214;0.01;0.675;0.065;0.034;0.057	D	0.92228	0.5790	10	0.30854	T	0.27	.	19.7375	0.96212	0.0:0.0:1.0:0.0	.	234;111;72;329;330;330	B0QYW6;E7EVR3;Q9Y2W8;A8KAF4;G4XH65;P03372	.;.;.;.;.;ESR1_HUMAN	K	330;330;111;330;330;258;157	ENSP00000405330:E330K;ENSP00000342630:E330K;ENSP00000387500:E330K;ENSP00000206249:E330K;ENSP00000445454:E157K	ENSP00000206249:E330K	E	+	1	0	ESR1	152307228	1.000000	0.71417	0.909000	0.35828	0.342000	0.28953	5.143000	0.64826	2.680000	0.91292	0.655000	0.94253	GAG	ESR1	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000091831		0.537	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	-	0	70	0	G			152265535	1	tier1	-	no_errors	ENST00000206249	ensembl	human	known	74_37	missense	8.70	41	4	SNP	0.972	A	A	152265535	G	A	152265535	3	1	167	1	0	0	0	0	1	0	0	0	5272	1059	37	1	1002	1	ESR1	6	152265535	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	72688143	152265535	18849532	61	42067											
ARID1B	57492	genome.wustl.edu	37	chr6	157405821	157405821	+	Missense_Mutation	SNP	T	T	C	0	1	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	gtctggctccattgatgaccTccccacgggaacggaagcaa	10	7	11	13	2	1	2	0	2	1	0	3	4	3	4	4	3	2	2	4	3	3	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr6:157405821T>C	ENST00000350026.5	+	5	2025	c.2024T>C	c.(2023-2025)cTc>cCc	p.L675P	ARID1B_ENST00000275248.4_Missense_Mutation_p.L617P|ARID1B_ENST00000346085.5_Missense_Mutation_p.L688P|ARID1B_ENST00000367148.1_Missense_Mutation_p.L675P	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	675					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATTGATGACCTCCCCACGGGA	0.498																																																	0													110	106	107					6																	157405821		2203	4300	6503	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2024T>C	6.37:g.157405821T>C	ENSP00000055163:p.Leu675Pro		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L675P	ENST00000350026.5	37	c.2024	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431777	0.83776	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.39592	3.2;3.19;3.91;4.25;3.76;1.07	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.51719	0.1691	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.56998	-0.7886	10	0.87932	D	0	.	15.8865	0.79255	0.0:0.0:0.0:1.0	.	59;675;688;617	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	P	688;675;675;617;96;59;174;97	ENSP00000344546:L688P;ENSP00000055163:L675P;ENSP00000356116:L675P;ENSP00000275248:L617P;ENSP00000412835:L174P;ENSP00000313006:L97P	ENSP00000275248:L617P	L	+	2	0	ARID1B	157447513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.143000	0.66587	0.528000	0.53228	CTC	ARID1B	-	NULL	ENSG00000049618		0.498	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1		0	47	0	T	NM_020732		157405821	1			no_errors	ENST00000367148	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	C	C	157405821	T	C	157405821	3	2	167	1	0	0	0	0	1	0	0	0	914	1551	54	4	2085	4	ARID1B	6	157405821	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	5140286	157405821	13709246	62	42068											
HDAC9	9734	genome.wustl.edu	37	chr7	18688191	18688191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtcacagacccctgaaccGaacccagtctgcacctttgc	9	7	7	18	2	2	2	1	1	1	1	2	3	2	2	6	0	4	1	6	0	2	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:18688191G>A	ENST00000432645.2	+	10	1343	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	HDAC9_ENST00000456174.2_Missense_Mutation_p.R420Q|HDAC9_ENST00000405010.3_Missense_Mutation_p.R448Q|HDAC9_ENST00000401921.1_Missense_Mutation_p.R407Q|HDAC9_ENST00000406451.4_Missense_Mutation_p.R448Q|HDAC9_ENST00000524023.1_Missense_Mutation_p.R371Q|HDAC9_ENST00000417496.2_Missense_Mutation_p.R446Q|HDAC9_ENST00000406072.1_Missense_Mutation_p.R435Q|HDAC9_ENST00000441542.2_Missense_Mutation_p.R451Q|HDAC9_ENST00000428307.2_Missense_Mutation_p.R404Q	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	448					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)	CCCCTGAACCGAACCCAGTCT	0.517																																																	0													76	78	77					7																	18688191		1976	4139	6115	SO:0001583	missense	0			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.1343G>A	7.37:g.18688191G>A	ENSP00000410337:p.Arg448Gln		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.R451Q	ENST00000432645.2	37	c.1352	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987857	0.93106	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.70516	-0.42;-0.27;-0.49;-0.41;-0.45;-0.47;-0.49;-0.49;-0.25;-0.41	5.48	5.48	0.80851	.	0.000000	0.44688	D	0.000421	D	0.85978	0.5823	M	0.82517	2.595	0.53005	D	0.999968	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.995;0.999;0.994;1.0;0.995;0.997;0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999	P;P;P;D;P;P;D;D;D;D;D;D;P;D	0.77557	0.462;0.886;0.663;0.959;0.462;0.744;0.978;0.975;0.99;0.941;0.978;0.99;0.905;0.978	D	0.87634	0.2518	10	0.87932	D	0	-29.3006	19.3488	0.94376	0.0:0.0:1.0:0.0	.	371;420;448;435;446;448;451;407;451;448;420;448;448;426	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	Q	446;449;448;448;404;435;407;448;451;420;371;448	ENSP00000401669:R446Q;ENSP00000384382:R448Q;ENSP00000384657:R448Q;ENSP00000395655:R404Q;ENSP00000384017:R435Q;ENSP00000383912:R407Q;ENSP00000410337:R448Q;ENSP00000408617:R451Q;ENSP00000388568:R420Q;ENSP00000430036:R371Q	ENSP00000262069:R449Q	R	+	2	0	HDAC9	18654716	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.337000	0.79256	2.584000	0.87258	0.557000	0.71058	CGA	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.517	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0	83	0	G			18688191	1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	missense	15.19	67	12	SNP	1.000	A	A	18688191	G	A	18688191	3	1	167	1	0	0	0	0	1	0	0	0	7041	1058	37	1	1390	1	HDAC9	7	18688191	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09		18688191	140450472	63	42069											
NCF1	653361	genome.wustl.edu	37	chr7	74193766	74193766	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcaagctccccacggacaaCcagtgagtgaacttttcacc	11	8	7	15	1	2	2	2	2	0	0	3	3	3	3	4	1	3	1	4	1	3	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:74193766C>A	ENST00000289473.4	+	4	463	c.393C>A	c.(391-393)aaC>aaA	p.N131K	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	131					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)	CCACGGACAACCAGTGAGTGA	0.587																																																	0													22	17	19					7																	74193766		2134	4145	6279	SO:0001583	missense	0			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.393C>A	7.37:g.74193766C>A	ENSP00000289473:p.Asn131Lys		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_P47PHOX	p.N131K	ENST00000289473.4	37	c.393	CCDS34657.1	7	.	.	.	.	.	.	.	.	.	.	c	8.270	0.813091	0.16537	.	.	ENSG00000158517	ENST00000289473;ENST00000433458;ENST00000471594;ENST00000442021	T;T;T	0.69435	-0.4;-0.4;-0.4	3.48	2.48	0.30137	Phox homologous domain (2);	0.565973	0.20584	N	0.089470	T	0.55305	0.1912	L	0.48642	1.525	0.36005	D	0.837663	B;B	0.26744	0.158;0.129	B;B	0.23419	0.046;0.012	T	0.60495	-0.7252	10	0.29301	T	0.29	-9.4425	10.7312	0.46098	0.1909:0.8091:0.0:0.0	.	131;131	P14598-2;P14598	.;NCF1_HUMAN	K	131;131;105;138	ENSP00000289473:N131K;ENSP00000392870:N131K;ENSP00000401935:N138K	ENSP00000289473:N131K	N	+	3	2	NCF1	73831702	1.000000	0.71417	0.777000	0.31699	0.217000	0.24651	3.256000	0.51492	1.690000	0.51089	0.442000	0.29010	AAC	NCF1	-	superfamily_Phox	ENSG00000158517		0.587	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF1	HGNC	protein_coding	OTTHUMT00000314560.1	-	0	89	0	C	NM_000265		74193766	1	tier1	-	no_errors	ENST00000289473	ensembl	human	known	74_37	missense	30.23	90	39	SNP	0.988	A	A	74193766	C	A	74193766	3	1	167	1	0	0	0	0	1	0	0	0	10255	506	18	3	407	3	NCF1	7	74193766	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	55505575	74193766	84944897	64	42070											
YWHAG	7532	genome.wustl.edu	37	chr7	75959019	75959019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgttgagggtgtcaagctCggcgatggcgtcgtcgaacg	6	9	16	10	7	1	1	1	1	0	0	5	3	1	1	0	3	2	2	0	3	2	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:75959019C>T	ENST00000307630.3	-	2	841	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	207					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						GTGTCAAGCTCGGCGATGGCG	0.597																																																	0													150	126	134					7																	75959019		2203	4300	6503	SO:0001583	missense	0			AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"14-3-3 gamma", "protein phosphatase 1, regulatory subunit 170"	605356	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.619G>A	7.37:g.75959019C>T	ENSP00000306330:p.Glu207Lys		O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.E207K	ENST00000307630.3	37	c.619	CCDS5584.1	7	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979344	0.74360	.	.	ENSG00000170027	ENST00000307630;ENST00000536755;ENST00000453207	T	0.47528	0.84	5.56	5.56	0.83823	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	M	0.74647	2.275	0.80722	D	1	D	0.55800	0.973	B	0.42771	0.397	T	0.63125	-0.6707	10	0.87932	D	0	-0.9839	18.7066	0.91641	0.0:1.0:0.0:0.0	.	207	P61981	1433G_HUMAN	K	207;185;167	ENSP00000306330:E207K	ENSP00000306330:E207K	E	-	1	0	YWHAG	75796955	1.000000	0.71417	0.996000	0.52242	0.802000	0.45316	7.616000	0.83018	2.899000	0.99337	0.655000	0.94253	GAG	YWHAG	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000170027		0.597	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAG	HGNC	protein_coding	OTTHUMT00000253002.1	-	0	40	0	C	NM_012479		75959019	-1	tier1	-	no_errors	ENST00000307630	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	75959019	C	T	75959019	3	4	167	1	0	0	0	0	1	0	0	0	17552	893	31	1	128	1	YWHAG	7	75959019	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	1765253	75959019	83179644	65	42071											
SEMA3A	10371	genome.wustl.edu	37	chr7	83640589	83640589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttgtccatttattcaccaGacttctgtgccctccaaagt	8	15	6	12	0	2	1	1	0	1	1	4	1	4	1	4	0	1	1	4	0	2	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:83640589G>C	ENST00000265362.4	-	8	1149	c.835C>G	c.(835-837)Ctg>Gtg	p.L279V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L279V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	279	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						TTATTCACCAGACTTCTGTGC	0.393																																																	0													105	98	100					7																	83640589		2203	4300	6503	SO:0001583	missense	0			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.835C>G	7.37:g.83640589G>C	ENSP00000265362:p.Leu279Val			Missense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.L279V	ENST00000265362.4	37	c.835	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789082	0.70337	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.32753	1.44;1.44	6.08	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.89478	3.035	0.58432	D	0.999999	D	0.71674	0.998	D	0.73708	0.981	T	0.66803	-0.5831	10	0.72032	D	0.01	.	11.3435	0.49546	0.1376:0.0:0.8624:0.0	.	279	Q14563	SEM3A_HUMAN	V	279	ENSP00000265362:L279V;ENSP00000415260:L279V	ENSP00000265362:L279V	L	-	1	2	SEMA3A	83478525	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.015000	0.57152	1.594000	0.50039	-0.218000	0.12543	CTG	SEMA3A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000075213		0.393	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	-	0	94	0	G	NM_006080		83640589	-1	tier1	-	no_errors	ENST00000265362	ensembl	human	known	74_37	missense	8.99	81	8	SNP	1.000	C	C	83640589	G	C	83640589	3	2	167	1	0	0	0	0	1	0	0	0	14069	933	33	5	1520	5	SEMA3A	7	83640589	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	7681570	83640589	75498074	66	42072											
BAIAP2L1	55971	genome.wustl.edu	37	chr7	97939821	97939821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttattaaacatatcgatCaagggactggtatatgctct	12	13	10	6	1	2	0	1	0	1	0	3	2	2	1	0	3	2	3	0	3	7	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:97939821C>A	ENST00000005260.8	-	9	1106	c.891G>T	c.(889-891)ttG>ttT	p.L297F	BAIAP2L1_ENST00000462558.1_5'UTR|RP4-607J23.2_ENST00000609873.1_RNA|RP4-607J23.2_ENST00000608882.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	297					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			ACATATCGATCAAGGGACTGG	0.418																																																	0													91	94	93					7																	97939821		2203	4300	6503	SO:0001583	missense	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.891G>T	7.37:g.97939821C>A	ENSP00000005260:p.Leu297Phe		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.L297F	ENST00000005260.8	37	c.891	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993592	0.74703	.	.	ENSG00000006453	ENST00000005260	T	0.28666	1.6	5.5	2.7	0.31948	.	0.069152	0.56097	D	0.000022	T	0.36717	0.0977	M	0.74258	2.255	0.49483	D	0.999793	D	0.61080	0.989	P	0.56474	0.799	T	0.49908	-0.8889	10	0.09338	T	0.73	-15.0727	2.9917	0.05986	0.131:0.536:0.1277:0.2053	.	297	Q9UHR4	BI2L1_HUMAN	F	297	ENSP00000005260:L297F	ENSP00000005260:L297F	L	-	3	2	AC093799.1	97777757	0.706000	0.27856	1.000000	0.80357	0.990000	0.78478	-0.209000	0.09358	1.328000	0.45358	0.655000	0.94253	TTG	BAIAP2L1	-	NULL	ENSG00000006453		0.418	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	HGNC	protein_coding	OTTHUMT00000334681.1	-	0	94	0	C	NM_018842		97939821	-1	tier1	-	no_errors	ENST00000005260	ensembl	human	known	74_37	missense	5.56	136	8	SNP	1.000	A	A	97939821	C	A	97939821	3	1	167	1	0	0	0	0	1	0	0	0	1303	825	29	3	668	3	BAIAP2L1	7	97939821	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	14299232	97939821	61198842	67	42073											
LAMB1	3912	genome.wustl.edu	37	chr7	107638866	107638866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagtgaccacattttcaatGagatggctgtcaggattcag	11	12	11	7	0	3	2	3	2	0	1	3	4	3	3	1	2	0	2	1	2	2	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr7:107638866G>A	ENST00000222399.6	-	4	515	c.285C>T	c.(283-285)ctC>ctT	p.L95L	LAMB1_ENST00000393561.1_Silent_p.L119L|U3_ENST00000458938.1_RNA|LAMB1_ENST00000393560.1_Silent_p.L95L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	95	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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						CATTTTCAATGAGATGGCTGT	0.423																																																	0													167	141	149					7																	107638866		2203	4300	6503	SO:0001819	synonymous_variant	0			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.285C>T	7.37:g.107638866G>A			Q14D91	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L95	ENST00000222399.6	37	c.285	CCDS5750.1	7																																																																																			LAMB1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000091136		0.423	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	-	0	109	0	G	NM_002291		107638866	-1	tier1	-	no_errors	ENST00000222399	ensembl	human	known	74_37	silent	43.75	72	56	SNP	1.000	A	A	107638866	G	A	107638866	2	1	167	1	0	0	0	0	0	0	0	1	8638	1277	45	3		3	LAMB1	7	107638866	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	9699045	107638866	51499797	68	42074											
PNMA2	10687	genome.wustl.edu	37	chr8	26366267	26366267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctctaacagtgccagcGccattgtcctaagaattgac	11	10	8	12	1	1	2	0	1	1	1	3	2	3	2	4	0	3	0	4	0	3	4	rs147059463		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:26366267G>T	ENST00000522362.2	-	3	899	c.5C>A	c.(4-6)gCg>gAg	p.A2E	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	2					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		cagtgccagcgccattgtcct	0.478																																																	0													188	177	181					8																	26366267		2203	4300	6503	SO:0001583	missense	0				CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"Paraneoplastic Ma antigens"	9159	protein-coding gene	gene with protein product		603970	"paraneoplastic antigen MA2"			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.5C>A	8.37:g.26366267G>T	ENSP00000429344:p.Ala2Glu		B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom	p.A2E	ENST00000522362.2	37	c.5	CCDS34868.1	8	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382483	0.42207	.	.	ENSG00000240694	ENST00000522362	T	0.16073	2.37	3.84	3.84	0.44239	.	.	.	.	.	T	0.23965	0.0580	L	0.58510	1.815	0.34776	D	0.734278	D	0.57571	0.98	P	0.48334	0.574	T	0.37641	-0.9697	9	0.87932	D	0	-9.3246	11.5564	0.50750	0.0:0.0:1.0:0.0	.	2	Q9UL42	PNMA2_HUMAN	E	2	ENSP00000429344:A2E	ENSP00000429344:A2E	A	-	2	0	PNMA2	26422184	0.993000	0.37304	0.936000	0.37596	0.070000	0.16714	3.689000	0.54706	2.429000	0.82318	0.655000	0.94253	GCG	PNMA2	-	NULL	ENSG00000240694		0.478	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA2	HGNC	protein_coding	OTTHUMT00000375709.2	-	0	53	0	G	NM_007257		26366267	-1	tier1	-	no_errors	ENST00000522362	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.946	T	T	26366267	G	T	26366267	3	4	167	1	0	0	0	0	1	0	0	0	12193	1087	38	2	1093	2	PNMA2	8	26366267	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09		26366267	119997755	69	42075											
PNOC	5368	genome.wustl.edu	37	chr8	28196744	28196744	+	Missense_Mutation	SNP	T	T	G	0	1	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	gccccgagtccggagcttgtTccaggagcaggaagagcccg	8	5	15	13	3	0	1	0	0	0	1	2	5	2	4	5	3	3	3	5	3	1	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:28196744T>G	ENST00000301908.3	+	3	522	c.314T>G	c.(313-315)tTc>tGc	p.F105C	PNOC_ENST00000522209.1_Missense_Mutation_p.F41C|RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	105					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGGAGCTTGTTCCAGGAGCAG	0.647																																																	0													34	39	38					8																	28196744		2203	4300	6503	SO:0001583	missense	0				CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"Endogenous ligands"	9163	protein-coding gene	gene with protein product	"nocistatin"	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.314T>G	8.37:g.28196744T>G	ENSP00000301908:p.Phe105Cys		B7Z749|Q6FH16	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept	p.F105C	ENST00000301908.3	37	c.314	CCDS6066.1	8	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096178	0.56075	.	.	ENSG00000168081	ENST00000518479;ENST00000301908;ENST00000522209	T;T	0.77750	0.89;-1.12	4.78	2.27	0.28462	.	1.326130	0.04408	N	0.365570	T	0.81513	0.4838	M	0.71206	2.165	0.22317	N	0.999202	P	0.50156	0.932	P	0.51193	0.662	T	0.63677	-0.6583	10	0.72032	D	0.01	-2.4238	4.0679	0.09869	0.18:0.0988:0.0:0.7212	.	105	Q13519	PNOC_HUMAN	C	105;105;41	ENSP00000428059:F105C;ENSP00000301908:F105C	ENSP00000301908:F105C	F	+	2	0	PNOC	28252663	0.001000	0.12720	0.024000	0.17045	0.003000	0.03518	0.818000	0.27295	0.860000	0.35481	-0.250000	0.11733	TTC	PNOC	-	NULL	ENSG00000168081		0.647	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNOC	HGNC	protein_coding	OTTHUMT00000219964.2	-	0	44	0	T	NM_006228		28196744	1	tier1	-	no_errors	ENST00000301908	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.733	G	G	28196744	T	G	28196744	3	3	167	1	0	0	0	0	1	0	0	0	12201	1783	62	4	320	4	PNOC	8	28196744	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	1830477	28196744	118167278	70	42076											
WHSC1L1	54904	genome.wustl.edu	37	chr8	38133346	38133346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggacagaattcacagaagGaaacagctgcactgctgcac	14	6	11	10	0	1	2	1	0	0	2	1	4	1	4	0	2	5	4	0	2	3	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:38133346G>T	ENST00000317025.8	-	24	4644	c.4127C>A	c.(4126-4128)tCc>tAc	p.S1376Y	RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.S1327Y|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.S1365Y	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1376					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)			TTCACAGAAGGAAACAGCTGC	0.527			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													54	54	54					8																	38133346		2028	4206	6234	SO:0001583	missense	0			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.4127C>A	8.37:g.38133346G>T	ENSP00000313983:p.Ser1376Tyr		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S1376Y	ENST00000317025.8	37	c.4127	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997217	0.93167	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.95001	-3.58;-3.58;-3.58	5.93	5.93	0.95920	Zinc finger, RING/FYVE/PHD-type (1);	0.142186	0.32357	U	0.006219	D	0.94128	0.8117	N	0.19112	0.55	0.80722	D	1	P;P;P	0.41188	0.623;0.741;0.623	P;P;P	0.53062	0.525;0.717;0.525	D	0.94504	0.7712	10	0.87932	D	0	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	1365;1327;1376	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	Y	1327;1376;1313;1365	ENSP00000393284:S1327Y;ENSP00000313983:S1376Y;ENSP00000434730:S1365Y	ENSP00000313983:S1376Y	S	-	2	0	WHSC1L1	38252503	1.000000	0.71417	0.919000	0.36401	0.884000	0.51177	7.823000	0.86660	2.818000	0.97014	0.591000	0.81541	TCC	WHSC1L1	-	NULL	ENSG00000147548		0.527	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	-	0	66	0	G	NM_023034		38133346	-1	tier1	-	no_errors	ENST00000317025	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.996	T	T	38133346	G	T	38133346	3	4	167	1	0	0	0	0	1	0	0	0	17412	1174	41	3	190	3	WHSC1L1	8	38133346	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	9936602	38133346	108230676	71	42077											
CA1	759	genome.wustl.edu	37	chr8	86244762	86244762	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaagtactttctgcagcTttgggttggcctcaccaacc	8	12	8	13	0	3	0	2	0	1	0	3	0	3	0	3	2	4	4	3	2	3	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:86244762T>A	ENST00000523953.1	-	7	1516	c.470A>T	c.(469-471)aAg>aTg	p.K157M	CA1_ENST00000256119.5_Missense_Mutation_p.K157M|CA1_ENST00000518341.1_5'Flank|CA1_ENST00000542576.1_Missense_Mutation_p.K157M|CA1_ENST00000522389.1_Intron|CA1_ENST00000431316.1_Missense_Mutation_p.K157M|CA1_ENST00000523022.1_Missense_Mutation_p.K157M|CA1_ENST00000432364.2_Missense_Mutation_p.K157M			P00915	CAH1_HUMAN	carbonic anhydrase I	157					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TTTCTGCAGCTTTGGGTTGGC	0.328																																																	0													87	80	82					8																	86244762		2203	4300	6503	SO:0001583	missense	0			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"Carbonic anhydrases"	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.470A>T	8.37:g.86244762T>A	ENSP00000430656:p.Lys157Met			Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.K157M	ENST00000523953.1	37	c.470	CCDS6237.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.42|16.42	3.119147|3.119147	0.56505|0.56505	.|.	.|.	ENSG00000133742|ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000524324;ENST00000517618;ENST00000519991;ENST00000520663;ENST00000517590|ENST00000521679	T;T;T;T;T;T;T;T;T;T;T|.	0.68479|.	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33|.	4.34|4.34	-2.73|-2.73	0.05950|0.05950	Carbonic anhydrase, alpha-class, catalytic domain (4);|.	0.979822|0.979822	0.08430|0.08430	N|N	0.947074|0.947074	T|T	0.21387|0.21387	0.0515|0.0515	L|L	0.33293|0.33293	1|1	0.20403|0.20403	N|N	0.99991|0.99991	B|.	0.29988|.	0.264|.	B|.	0.40741|.	0.339|.	T|T	0.31475|0.31475	-0.9942|-0.9942	10|6	0.62326|.	D|.	0.03|.	-0.9931|-0.9931	0.2182|0.2182	0.00164|0.00164	0.2925:0.2671:0.1675:0.2729|0.2925:0.2671:0.1675:0.2729	.|.	157|.	P00915|.	CAH1_HUMAN|.	M|N	157;157;157;157;157;157;91;157;44;44;157|93	ENSP00000430656:K157M;ENSP00000256119:K157M;ENSP00000392338:K157M;ENSP00000443517:K157M;ENSP00000401551:K157M;ENSP00000429798:K157M;ENSP00000428923:K91M;ENSP00000430861:K157M;ENSP00000430543:K44M;ENSP00000430571:K44M;ENSP00000429843:K157M|.	ENSP00000256119:K157M|.	K|K	-|-	2|3	0|2	CA1|CA1	86432014|86432014	0.000000|0.000000	0.05858|0.05858	0.766000|0.766000	0.31476|0.31476	0.943000|0.943000	0.58893|0.58893	-1.228000|-1.228000	0.02948|0.02948	-0.080000|-0.080000	0.12685|0.12685	0.477000|0.477000	0.44152|0.44152	AAG|AAA	CA1	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000133742		0.328	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA1	HGNC	protein_coding	OTTHUMT00000381067.1	-	0	68	0	T	NM_001738		86244762	-1	tier1	-	no_errors	ENST00000256119	ensembl	human	known	74_37	missense	17.28	67	14	SNP	0.432	A	A	86244762	T	A	86244762	3	1	167	1	0	0	0	0	1	0	0	0	2517	1609	56	5	327	5	CA1	8	86244762	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	48111416	86244762	60119260	72	42078											
SPAG1	6674	genome.wustl.edu	37	chr8	101196196	101196196	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttaagatttgacgtggaGaaggaatgtttaaaaattga	16	13	10	2	1	0	4	0	2	0	2	0	6	0	5	0	2	0	1	0	2	6	6			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:101196196G>C	ENST00000388798.2	+	6	692	c.501G>C	c.(499-501)gaG>gaC	p.E167D	SPAG1_ENST00000251809.3_Missense_Mutation_p.E167D|SPAG1_ENST00000520643.1_Missense_Mutation_p.E167D|SPAG1_ENST00000520508.1_Missense_Mutation_p.E167D|Y_RNA_ENST00000362797.1_RNA	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	167					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TTGACGTGGAGAAGGAATGTT	0.274																																																	0													53	54	54					8																	101196196		2199	4290	6489	SO:0001583	missense	0			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.501G>C	8.37:g.101196196G>C	ENSP00000373450:p.Glu167Asp		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E167D	ENST00000388798.2	37	c.501	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	G	8.616	0.890195	0.17613	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.66	3.26	0.37387	.	3.184110	0.00447	N	0.000095	T	0.32823	0.0842	N	0.24115	0.695	0.42882	D	0.994175	D;P	0.76494	0.999;0.77	D;P	0.85130	0.997;0.462	T	0.40136	-0.9579	10	0.17832	T	0.49	-33.3339	7.9984	0.30282	0.7692:0.0:0.2308:0.0	.	167;167	Q07617;G3XAM3	SPAG1_HUMAN;.	D	167	ENSP00000427716:E167D;ENSP00000251809:E167D;ENSP00000428070:E167D;ENSP00000373450:E167D	ENSP00000251809:E167D	E	+	3	2	SPAG1	101265372	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.213000	0.42844	0.423000	0.26033	-0.340000	0.08031	GAG	SPAG1	-	NULL	ENSG00000104450		0.274	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	-	0	153	0	G	NM_172218		101196196	1	tier1	-	no_errors	ENST00000251809	ensembl	human	known	74_37	missense	7.91	163	14	SNP	1.000	C	C	101196196	G	C	101196196	3	2	167	1	0	0	0	0	1	0	0	0	15022	933	33	5	519	5	SPAG1	8	101196196	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	14951434	101196196	45167826	73	42079											
KLF10	7071	genome.wustl.edu	37	chr8	103663830	103663830	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggacacaggggctggctGagacctgcagatgaccgtct	8	7	16	10	1	1	3	0	2	1	2	1	5	1	4	2	5	1	3	2	5	0	0			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:103663830G>A	ENST00000285407.6	-	3	1030	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	KLF10_ENST00000395884.3_Nonsense_Mutation_p.Q233*	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	244					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)			GGGGCTGGCTGAGACCTGCAG	0.527											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(16;495 519 2144 16528 44005)												0													90	79	83					8																	103663830		2203	4300	6503	SO:0001587	stop_gained	0			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.730C>T	8.37:g.103663830G>A	ENSP00000285407:p.Gln244*	1375	A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q244*	ENST00000285407.6	37	c.730	CCDS6294.1	8	.	.	.	.	.	.	.	.	.	.	G	41	8.859870	0.98980	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	.	.	.	5.77	5.77	0.91146	.	0.164912	0.42964	D	0.000640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	16.6198	0.84927	0.0:0.1978:0.8022:0.0	.	.	.	.	X	244;233	.	ENSP00000285407:Q244X	Q	-	1	0	KLF10	103733006	0.908000	0.30866	0.589000	0.28718	0.174000	0.22865	2.131000	0.42074	2.728000	0.93425	0.655000	0.94253	CAG	KLF10	-	NULL	ENSG00000155090		0.527	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF10	HGNC	protein_coding	OTTHUMT00000379967.1	-	0	68	0	G			103663830	-1	tier1	-	no_errors	ENST00000285407	ensembl	human	known	74_37	nonsense	43.84	41	32	SNP	0.148	A	A	103663830	G	A	103663830	4	1	167	1	0	0	0	0	0	1	0	0	8365	1299	45	3	720	3	KLF10	8	103663830	Nonsense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	2467634	103663830	42700192	74	42080											
RIMS2	9699	genome.wustl.edu	37	chr8	105261014	105261014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gccctgctcagctagtgggaCgccagactctggcaacacct	8	7	11	15	1	2	1	1	0	1	1	2	2	2	2	3	2	3	3	3	2	2	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:105261014C>T	ENST00000436393.2	+	25	3857	c.3616C>T	c.(3616-3618)Cgc>Tgc	p.R1206C	RIMS2_ENST00000262231.10_Missense_Mutation_p.R1027C|RIMS2_ENST00000339750.2_Missense_Mutation_p.R124C|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1188C|RIMS2_ENST00000507740.1_Missense_Mutation_p.R1002C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1250					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)			GCTAGTGGGACGCCAGACTCT	0.428										HNSCC(12;0.0054)																																							0													96	96	96					8																	105261014		2156	4283	6439	SO:0001583	missense	0			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.3616C>T	8.37:g.105261014C>T	ENSP00000390665:p.Arg1206Cys		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R1188C	ENST00000436393.2	37	c.3562		8	.	.	.	.	.	.	.	.	.	.	C	25.1	4.597826	0.87055	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.39229	2.17;1.94;2.01;1.09;1.96;1.89;1.85	5.34	5.34	0.76211	.	.	.	.	.	T	0.65176	0.2666	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.995;1.0;1.0	D;D;D;D;D	0.79784	0.969;0.979;0.957;0.986;0.993	T	0.67389	-0.5683	9	0.87932	D	0	.	19.4079	0.94655	0.0:1.0:0.0:0.0	.	1250;1206;1027;1002;1188	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	1225;1188;1250;1027;1002;1195;1206;124;124	ENSP00000384892:R1188C;ENSP00000262231:R1027C;ENSP00000423559:R1002C;ENSP00000386228:R1195C;ENSP00000390665:R1206C;ENSP00000428478:R124C;ENSP00000342051:R124C	ENSP00000262231:R1027C	R	+	1	0	RIMS2	105330190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.910000	0.69931	2.664000	0.90586	0.650000	0.86243	CGC	RIMS2	-	NULL	ENSG00000176406		0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	68	0	C	NM_001100117		105261014	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	T	T	105261014	C	T	105261014	3	4	167	1	0	0	0	0	1	0	0	0	13413	536	19	1	3840	1	RIMS2	8	105261014	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	1597184	105261014	41103008	75	42081											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110534995	110534995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgcccagccagttgaaaGgtctgcatttcctgttcatc	8	12	9	12	0	2	1	1	1	1	0	4	2	3	1	3	1	3	3	3	1	1	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr8:110534995G>T	ENST00000378402.5	+	75	12310	c.12206G>T	c.(12205-12207)aGg>aTg	p.R4069M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4069					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R4073T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAGTTGAAAGGTCTGCATTT	0.512										HNSCC(38;0.096)																																							1	Substitution - Missense(1)	ovary(1)											54	57	56					8																	110534995		2178	4278	6456	SO:0001583	missense	0			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.12206G>T	8.37:g.110534995G>T	ENSP00000367655:p.Arg4069Met		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.R4069M	ENST00000378402.5	37	c.12206	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778876	0.49891	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.86432	-2.12;-1.94	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.92675	0.7672	M	0.76574	2.34	0.33434	D	0.581496	D	0.89917	1.0	D	0.64144	0.922	D	0.94171	0.7423	10	0.48119	T	0.1	.	17.913	0.88940	0.0:0.0:1.0:0.0	.	4069	Q86WI1	PKHL1_HUMAN	M	4069;997	ENSP00000367655:R4069M;ENSP00000437376:R997M	ENSP00000367655:R4069M	R	+	2	0	PKHD1L1	110604171	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	4.467000	0.60155	2.831000	0.97527	0.650000	0.86243	AGG	PKHD1L1	-	NULL	ENSG00000205038		0.512	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0	37	0	G	NM_177531		110534995	1			no_errors	ENST00000378402	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	110534995	G	T	110534995	3	4	167	1	0	0	0	0	1	0	0	0	12011	1000	35	3	12504	3	PKHD1L1	8	110534995	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	5273981	110534995	35829027	76	42082											
ALDH1B1	219	genome.wustl.edu	37	chr9	38396393	38396393	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggcagagcagacccccctCtctgccctgtatttggcctc	5	10	10	16	0	1	2	0	0	1	2	3	2	1	2	5	2	2	3	5	2	1	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr9:38396393C>G	ENST00000377698.3	+	2	801	c.648C>G	c.(646-648)ctC>ctG	p.L216L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	216					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)		AGACCCCCCTCTCTGCCCTGT	0.607																																																	0													65	65	65					9																	38396393		2203	4300	6503	SO:0001819	synonymous_variant	0			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.648C>G	9.37:g.38396393C>G			B2R8F0|Q8WX76|Q9BV45	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.L216	ENST00000377698.3	37	c.648	CCDS6615.1	9																																																																																			ALDH1B1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000137124		0.607	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1B1	HGNC	protein_coding	OTTHUMT00000052492.1	-	0	56	0	C			38396393	1	tier1	-	no_errors	ENST00000377698	ensembl	human	known	74_37	silent	18.52	20	5	SNP	0.014	G	G	38396393	C	G	38396393	2	3	167	1	0	0	0	0	0	0	0	1	493	900	32	5		5	ALDH1B1	9	38396393	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09		38396393	102817038	77	42083											
PRUNE2	158471	genome.wustl.edu	37	chr9	79326063	79326063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagacccctgggagagggggGcactgcctgccacggcttct	7	6	15	13	1	1	2	0	0	1	2	1	3	1	2	4	5	2	2	4	5	1	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr9:79326063G>A	ENST00000376718.3	-	8	1250	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A17V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	376					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						GGAGAGGGGGGCACTGCCTGC	0.522																																																	0													36	33	34					9																	79326063		1568	3582	5150	SO:0001583	missense	0			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.1127C>T	9.37:g.79326063G>A	ENSP00000365908:p.Ala376Val		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.A17V	ENST00000376718.3	37	c.50	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878403	0.72294	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.68331	0.36;-0.32	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000049	T	0.73976	0.3656	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74853	-0.3523	10	0.51188	T	0.08	-12.7679	20.1379	0.98040	0.0:0.0:1.0:0.0	.	376	Q8WUY3	PRUN2_HUMAN	V	376;17;375	ENSP00000365908:A376V;ENSP00000397425:A17V	ENSP00000365908:A376V	A	-	2	0	PRUNE2	78515883	1.000000	0.71417	0.984000	0.44739	0.941000	0.58515	6.747000	0.74872	2.779000	0.95612	0.655000	0.94253	GCC	PRUNE2	-	NULL	ENSG00000106772		0.522	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2		0	61	0	G	NM_138818		79326063	-1			no_errors	ENST00000428286	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.998	A	A	79326063	G	A	79326063	3	1	167	1	0	0	0	0	1	0	0	0	12683	1203	42	3	8187	3	PRUNE2	9	79326063	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	40929670	79326063	61887368	78	42084											
FLJ46321	389763	genome.wustl.edu	37	chr9	84607398	84607398	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtccatgttccgatctcCatcattcctggagattttcc	8	14	7	12	1	2	1	1	0	1	1	7	3	6	1	5	2	0	1	5	2	1	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr9:84607398C>A	ENST00000344803.2	+	4	2060	c.2013C>A	c.(2011-2013)tcC>tcA	p.S671S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	671					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCCGATCTCCATCATTCCTG	0.507																																																	0													108	105	106					9																	84607398		1872	4104	5976	SO:0001819	synonymous_variant	0				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.2013C>A	9.37:g.84607398C>A				Silent	SNP	NULL	p.S671	ENST00000344803.2	37	c.2013	CCDS47986.1	9																																																																																			SPATA31D1	-	NULL	ENSG00000214929		0.507	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	193	0	C	NM_001001670		84607398	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	silent	11.51	123	16	SNP	0.006	A	A	84607398	C	A	84607398	2	1	167	1	0	0	0	0	0	0	0	1	5954	581	21	3		3	FLJ46321	9	84607398	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	5281335	84607398	56606033	79	42085											
PTCH1	5727	genome.wustl.edu	37	chr9	98239986	98239986	+	Splice_Site	SNP	T	T	A	0	1	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	ttagacaggcataggcgagcTgcaagcagaacaatgggggc	13	5	15	8	1	0	2	0	0	0	2	0	3	0	2	0	4	4	4	0	4	5	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr9:98239986T>A	ENST00000331920.6	-	10	1647		c.e10-2		PTCH1_ENST00000437951.1_Splice_Site|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000421141.1_Splice_Site|PTCH1_ENST00000418258.1_Splice_Site|PTCH1_ENST00000429896.2_Splice_Site|PTCH1_ENST00000375274.2_Splice_Site|PTCH1_ENST00000430669.2_Splice_Site	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1						brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ATAGGCGAGCTGCAAGCAGAA	0.547																																																	0													34	33	33					9																	98239986		2203	4300	6503	SO:0001630	splice_region_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1348-2A>T	9.37:g.98239986T>A			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Splice_Site	SNP	-	e10-2	ENST00000331920.6	37	c.1348-2	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356482	0.82243	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9842	0.71332	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTCH1	97279807	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.514000	0.81750	2.117000	0.64856	0.533000	0.62120	.	PTCH1	-	-	ENSG00000185920		0.547	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	-	0	78	0	T	NM_000264	Intron	98239986	-1	tier1	-	no_errors	ENST00000331920	ensembl	human	known	74_37	splice_site	86.96	6	40	SNP	1.000	A	A	98239986	T	A	98239986	5	1	167	1	0	0	0	0	0	0	1	0	12772	1594	55	5	3053	5	PTCH1	9	98239986	Splice_Site	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	13632588	98239986	42973445	80	42086											
TLR4	7099	genome.wustl.edu	37	chr9	120476760	120476760	+	Missense_Mutation	SNP	T	T	G	0	1	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	gctcaggcagcaggtggagcTgtaccgccttctcagcagga	8	7	14	12	1	2	0	2	0	1	0	3	2	2	2	2	4	4	6	2	4	1	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr9:120476760T>G	ENST00000355622.6	+	3	2455	c.2354T>G	c.(2353-2355)cTg>cGg	p.L785R	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L745R	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	785	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CAGGTGGAGCTGTACCGCCTT	0.562																																																	0													72	71	71					9																	120476760		2203	4300	6503	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2354T>G	9.37:g.120476760T>G	ENSP00000363089:p.Leu785Arg		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L785R	ENST00000355622.6	37	c.2354	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114913	0.77210	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.09538	2.97;2.97	5.91	5.91	0.95273	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.52532	D	0.000070	T	0.42381	0.1200	M	0.90759	3.145	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	T	0.51434	-0.8706	10	0.87932	D	0	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	785	O00206	TLR4_HUMAN	R	745;785	ENSP00000377997:L745R;ENSP00000363089:L785R	ENSP00000363089:L785R	L	+	2	0	TLR4	119516581	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.848000	0.69458	2.261000	0.74972	0.533000	0.62120	CTG	TLR4	-	pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000136869		0.562	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	-	0	34	0	T	NM_138554		120476760	1	tier1	-	no_errors	ENST00000355622	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	G	G	120476760	T	G	120476760	3	3	167	1	0	0	0	0	1	0	0	0	16000	1580	55	4	2364	4	TLR4	9	120476760	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	22236774	120476760	20736671	81	42087											
MLLT10	8028	genome.wustl.edu	37	chr10	21971160	21971160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttacttaaaagcgttctCagagttgctgaatgcaatac	12	13	7	9	1	1	2	1	1	1	1	3	2	2	2	1	0	5	4	1	0	6	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:21971160C>T	ENST00000307729.7	+	13	1851	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	MLLT10_ENST00000377072.3_Missense_Mutation_p.S558L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S558L|MLLT10_ENST00000446906.2_Missense_Mutation_p.S558L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	558	DNA-binding.				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)	p.S558*(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAAGCGTTCTCAGAGTTGCTG	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	2	Substitution - Nonsense(2)	kidney(2)											165	148	153					10																	21971160		2203	4299	6502	SO:0001583	missense	0			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.1673C>T	10.37:g.21971160C>T	ENSP00000307411:p.Ser558Leu		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S558L	ENST00000307729.7	37	c.1673	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771571	0.49680	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.16597	2.44;2.33;2.34;2.33	5.17	4.25	0.50352	.	1.399860	0.04085	N	0.310248	T	0.18173	0.0436	L	0.52573	1.65	0.35694	D	0.815084	B;B;B;B	0.32829	0.386;0.164;0.0;0.335	B;B;B;B	0.28011	0.085;0.027;0.0;0.039	T	0.22800	-1.0206	10	0.26408	T	0.33	.	9.2625	0.37621	0.0:0.843:0.0:0.157	.	253;558;558;558	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	L	558;558;558;558;201;200	ENSP00000366272:S558L;ENSP00000401406:S558L;ENSP00000307411:S558L;ENSP00000366258:S558L	ENSP00000307411:S558L	S	+	2	0	MLLT10	22011166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.345000	0.33953	2.583000	0.87209	0.655000	0.94253	TCA	MLLT10	-	NULL	ENSG00000078403		0.328	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	-	0	88	0	C			21971160	1	tier1	-	no_errors	ENST00000307729	ensembl	human	known	74_37	missense	13.41	71	11	SNP	1.000	T	T	21971160	C	T	21971160	3	4	167	1	0	0	0	0	1	0	0	0	9664	838	29	3	1719	3	MLLT10	10	21971160	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09		21971160	113563587	82	42088											
PCDH15	65217	genome.wustl.edu	37	chr10	55582697	55582697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgccttgccactgctgcaGatctatgatctctggtctat	6	14	10	11	0	3	2	0	1	3	1	4	2	3	2	2	2	4	2	2	2	2	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:55582697G>A	ENST00000320301.6	-	33	5183	c.4789C>T	c.(4789-4791)Ctg>Ttg	p.L1597L	PCDH15_ENST00000395430.1_Silent_p.L1594L|PCDH15_ENST00000437009.1_Silent_p.L1528L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Silent_p.L1557L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000361849.3_Silent_p.L1599L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Silent_p.L1574L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1597					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACTGCTGCAGATCTATGATC	0.468										HNSCC(58;0.16)																																							0													138	132	134					10																	55582697		2203	4299	6502	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4789C>T	10.37:g.55582697G>A			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1597	ENST00000320301.6	37	c.4789	CCDS7248.1	10																																																																																			PCDH15	-	NULL	ENSG00000150275		0.468	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	53	0	G	NM_033056		55582697	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	silent	10.00	54	6	SNP	0.950	A	A	55582697	G	A	55582697	2	1	167	1	0	0	0	0	0	0	0	1	11550	933	33	3		3	PCDH15	10	55582697	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	33611537	55582697	79952050	83	42089											
PRF1	5551	genome.wustl.edu	37	chr10	72358262	72358262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccgagggcagcagtcCtgggtggtgaccgctgagcc	5	7	16	13	2	1	2	0	2	1	0	2	3	2	2	4	3	3	3	4	3	0	0			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:72358262C>A	ENST00000441259.1	-	3	1375	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H	PRF1_ENST00000373209.2_Missense_Mutation_p.Q405H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	405	EGF-like.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCAGCAGTCCTGGGTGGTGA	0.682			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0													23	24	24					10																	72358262		2201	4289	6490	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1215G>T	10.37:g.72358262C>A	ENSP00000398568:p.Gln405His		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom	p.Q405H	ENST00000441259.1	37	c.1215	CCDS7305.1	10	.	.	.	.	.	.	.	.	.	.	C	9.823	1.186319	0.21870	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.95622	-3.76;-3.76	5.83	-2.33	0.06724	C2 calcium/lipid-binding domain, CaLB (1);	0.899355	0.09577	N	0.783395	D	0.90160	0.6925	L	0.46157	1.445	0.19300	N	0.999977	B	0.10296	0.003	B	0.04013	0.001	T	0.78692	-0.2105	10	0.40728	T	0.16	-9.91	2.2272	0.03987	0.1063:0.3028:0.3135:0.2774	.	405	P14222	PERF_HUMAN	H	405	ENSP00000362305:Q405H;ENSP00000398568:Q405H	ENSP00000316746:Q405H	Q	-	3	2	PRF1	72028268	0.000000	0.05858	0.211000	0.23655	0.762000	0.43233	-0.655000	0.05348	-0.116000	0.11893	0.655000	0.94253	CAG	PRF1	-	superfamily_C2_dom	ENSG00000180644		0.682	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRF1	HGNC	protein_coding	OTTHUMT00000048517.2	-	0	46	0	C	NM_005041		72358262	-1	tier1	-	no_errors	ENST00000373209	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.000	A	A	72358262	C	A	72358262	3	1	167	1	0	0	0	0	1	0	0	0	12520	680	24	3	456	3	PRF1	10	72358262	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	16775565	72358262	63176485	84	42090											
MMRN2	79812	genome.wustl.edu	37	chr10	88702246	88702246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccccaggtccaggctgacGttggcttccatgagcccttg	5	11	11	14	1	0	2	0	2	0	0	3	2	3	2	5	3	1	3	5	3	0	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:88702246G>A	ENST00000372027.5	-	6	2616	c.2295C>T	c.(2293-2295)aaC>aaT	p.N765N	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	765					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						CCAGGCTGACGTTGGCTTCCA	0.592																																																	0													94	92	93					10																	88702246		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2295C>T	10.37:g.88702246G>A			Q504V7|Q6P2N2	Silent	SNP	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain	p.N765	ENST00000372027.5	37	c.2295	CCDS7379.1	10																																																																																			MMRN2	-	NULL	ENSG00000173269		0.592	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	HGNC	protein_coding	OTTHUMT00000049179.2	-	0	35	0	G	NM_024756		88702246	-1	tier1	-	no_errors	ENST00000372027	ensembl	human	known	74_37	silent	43.75	18	14	SNP	0.563	A	A	88702246	G	A	88702246	2	1	167	1	0	0	0	0	0	0	0	1	9709	1136	40	1		1	MMRN2	10	88702246	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	16343984	88702246	46832501	85	42091											
ITPRIP	85450	genome.wustl.edu	37	chr10	106074980	106074980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtcgccgcagggaggcGccatgctgttcctgccgtgc	4	8	14	15	4	0	0	0	0	0	0	2	1	1	1	5	2	3	3	5	2	0	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:106074980G>A	ENST00000337478.1	-	2	1001	c.830C>T	c.(829-831)gCg>gTg	p.A277V	ITPRIP_ENST00000358187.2_Missense_Mutation_p.A277V|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.A277V	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	277						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCAGGGAGGCGCCATGCTGTT	0.607																																																	0													51	52	52					10																	106074980		2203	4300	6503	SO:0001583	missense	0			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.830C>T	10.37:g.106074980G>A	ENSP00000337178:p.Ala277Val		D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	NULL	p.A277V	ENST00000337478.1	37	c.830	CCDS7557.1	10	.	.	.	.	.	.	.	.	.	.	G	2.933	-0.220646	0.06061	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.23147	1.92;1.92;1.92	5.11	-10.2	0.00374	.	1.069040	0.07181	N	0.854075	T	0.13670	0.0331	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31586	-0.9938	10	0.42905	T	0.14	-1.4144	10.7259	0.46068	0.1614:0.0807:0.6772:0.0808	.	277	Q8IWB1	IPRI_HUMAN	V	277	ENSP00000337178:A277V;ENSP00000278071:A277V;ENSP00000350915:A277V	ENSP00000278071:A277V	A	-	2	0	ITPRIP	106064970	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.427000	0.02441	-2.124000	0.00822	-0.440000	0.05779	GCG	ITPRIP	-	NULL	ENSG00000148841		0.607	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIP	HGNC	protein_coding	OTTHUMT00000050204.1	-	0	27	0	G	NM_033397		106074980	-1	tier1	-	no_errors	ENST00000278071	ensembl	human	known	74_37	missense	48.57	18	17	SNP	0.000	A	A	106074980	G	A	106074980	3	1	167	1	0	0	0	0	1	0	0	0	7950	1087	38	1	817	1	ITPRIP	10	106074980	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	17372734	106074980	29459767	86	42092											
AFAP1L2	84632	genome.wustl.edu	37	chr10	116073779	116073779	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtaggttcacgtccagctGagggctgtggtccttggagg	6	10	16	9	1	1	1	1	1	0	0	3	2	3	2	2	5	1	4	2	5	1	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr10:116073779G>A	ENST00000304129.4	-	7	672	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	AFAP1L2_ENST00000369271.3_Nonsense_Mutation_p.Q215*|AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.Q268*			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	215	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		ACGTCCAGCTGAGGGCTGTGG	0.552																																																	0													133	96	109					10																	116073779		2203	4300	6503	SO:0001587	stop_gained	0			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.643C>T	10.37:g.116073779G>A	ENSP00000303042:p.Gln215*		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q268*	ENST00000304129.4	37	c.802	CCDS31286.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.153547	0.94645	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	.	.	.	4.73	4.73	0.59995	.	0.249723	0.35013	N	0.003508	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-16.6238	17.7015	0.88296	0.0:0.0:1.0:0.0	.	.	.	.	X	215;215;242;233;268;233	.	ENSP00000303042:Q215X	Q	-	1	0	AFAP1L2	116063769	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	9.828000	0.99408	2.169000	0.68431	0.462000	0.41574	CAG	AFAP1L2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000169129		0.552	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1	-	0	79	0	G	NM_032550		116073779	-1	tier1	-	no_errors	ENST00000545353	ensembl	human	known	74_37	nonsense	24.59	46	15	SNP	1.000	A	A	116073779	G	A	116073779	4	1	167	1	0	0	0	0	0	1	0	0	355	1299	45	3	1865	3	AFAP1L2	10	116073779	Nonsense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	9998799	116073779	19460968	87	42093											
RPS13	6207	genome.wustl.edu	37	chr11	17098716	17098716	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttagacacaaacactcaccGatctgtgaaggagtaaggcc	14	7	10	10	1	2	2	1	1	1	1	2	4	2	3	2	2	1	2	2	2	4	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:17098716G>A	ENST00000525634.1	-	3	295	c.150C>T	c.(148-150)atC>atT	p.I50I	RPS13_ENST00000526895.1_5'UTR|SNORD14A_ENST00000606526.1_RNA|SNORD14B_ENST00000364533.1_RNA|PIK3C2A_ENST00000531428.1_5'Flank|RPS13_ENST00000228140.2_Splice_Site_p.I50I			P62277	RS13_HUMAN	ribosomal protein S13	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						AACACTCACCGATCTGTGAAG	0.433																																																	0													163	152	155					11																	17098716		2200	4294	6494	SO:0001630	splice_region_variant	0			X79239	CCDS7823.1	11p	2011-04-05			ENSG00000110700	ENSG00000110700		"S ribosomal proteins"	10386	protein-coding gene	gene with protein product	"40S ribosomal protein S13"	180476				8332508, 9582194	Standard	NM_001017		Approved	S13	uc001mmp.3	P62277	OTTHUMG00000165988	ENST00000525634.1:c.151+1C>T	11.37:g.17098716G>A			B2R549|P19116|Q02546|Q29200|Q498Y0	Silent	SNP	pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd	p.I50	ENST00000525634.1	37	c.150	CCDS7823.1	11																																																																																			RPS13	-	pfam_Ribosomal_S13/S15_N	ENSG00000110700		0.433	RPS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS13	HGNC	protein_coding	OTTHUMT00000387320.2	-	0	35	0	G	NM_001017	Silent	17098716	-1	tier1	-	no_errors	ENST00000525634	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.999	A	A	17098716	G	A	17098716	5	1	167	1	0	0	0	0	0	0	1	0	13668	1072	37	1	321	1	RPS13	11	17098716	Splice_Site	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09		17098716	117907800	88	42094											
NAV2	89797	genome.wustl.edu	37	chr11	20067055	20067055	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctctaccaggtctggtcaaCcaaacagacaaggagaaagg	15	6	10	10	0	3	2	1	0	2	2	4	3	3	2	2	4	3	0	2	4	5	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:20067055C>T	ENST00000396087.3	+	15	3909	c.3810C>T	c.(3808-3810)aaC>aaT	p.N1270N	NAV2_ENST00000349880.4_Silent_p.N1247N|NAV2_ENST00000396085.1_Silent_p.N1247N|NAV2_ENST00000360655.4_Silent_p.N1183N|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Silent_p.N1199N|NAV2_ENST00000533917.1_Silent_p.N333N|NAV2_ENST00000540292.1_Silent_p.N1201N|NAV2_ENST00000311043.8_Silent_p.N333N	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1270					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.N1270K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTCTGGTCAACCAAACAGACA	0.547																																																	1	Substitution - Missense(1)	lung(1)											66	63	64					11																	20067055		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3810C>T	11.37:g.20067055C>T			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.N1270	ENST00000396087.3	37	c.3810	CCDS58126.1	11																																																																																			NAV2	-	NULL	ENSG00000166833		0.547	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1		0	47	0	C	NM_145117		20067055	1			no_errors	ENST00000396087	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T	T	20067055	C	T	20067055	2	4	167	1	0	0	0	0	0	0	0	1	10222	506	18	3		3	NAV2	11	20067055	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	2968339	20067055	114939461	89	42095											
RCN1	5954	genome.wustl.edu	37	chr11	32119956	32119956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaaaagatgctgccacGtgatgagagaagattcaaag	16	9	10	6	1	1	5	1	2	0	3	1	6	1	5	1	0	2	1	1	0	5	3	rs375977831		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:32119956G>A	ENST00000054950.3	+	3	802	c.509G>A	c.(508-510)cGt>cAt	p.R170H	RCN1_ENST00000532942.1_Missense_Mutation_p.R119H|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	170	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)	p.R170H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					ATGCTGCCACGTGATGAGAGA	0.448																																																	1	Substitution - Missense(1)	endometrium(1)						G	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	71	66	68		509	5.4	0.9	11		68	0,8592		0,0,4296	no	missense	RCN1	NM_002901.2	29	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	170/332	32119956	1,12995	2202	4296	6498	SO:0001583	missense	0			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.509G>A	11.37:g.32119956G>A	ENSP00000054950:p.Arg170His		B7Z1M1|D3DR00	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R170H	ENST00000054950.3	37	c.509	CCDS7876.1	11	.	.	.	.	.	.	.	.	.	.	g	34	5.399300	0.96030	2.27E-4	0.0	ENSG00000049449	ENST00000530348;ENST00000532942;ENST00000054950;ENST00000532721	T;T;T	0.55760	0.56;0.5;0.53	5.45	5.45	0.79879	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79125	0.4393	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.977;0.997	T	0.83229	-0.0064	10	0.72032	D	0.01	-7.4243	19.295	0.94118	0.0:0.0:1.0:0.0	.	170;119	Q15293;B7Z1M1	RCN1_HUMAN;.	H	4;119;170;4	ENSP00000436482:R4H;ENSP00000436422:R119H;ENSP00000054950:R170H	ENSP00000054950:R170H	R	+	2	0	RCN1	32076532	1.000000	0.71417	0.885000	0.34714	0.928000	0.56348	9.869000	0.99810	2.569000	0.86673	0.591000	0.81541	CGT	RCN1	-	pfscan_EF_hand_dom	ENSG00000049449		0.448	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN1	HGNC	protein_coding	OTTHUMT00000388510.1		0	93	0	G	NM_002901		32119956	1			no_errors	ENST00000054950	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.998	A	A	32119956	G	A	32119956	3	1	167	1	0	0	0	0	1	0	0	0	13224	1145	40	1	519	1	RCN1	11	32119956	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	12052901	32119956	102886560	90	42096											
OR5L2	26338	genome.wustl.edu	37	chr11	55595538	55595538	+	Missense_Mutation	SNP	A	A	T	1	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	ccgtgttctacacagttgtgAttcccatgctgaaccccctg	7	12	8	14	1	1	2	0	2	1	0	2	2	2	2	4	0	3	3	4	0	2	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:55595538A>T	ENST00000378397.1	+	1	844	c.844A>T	c.(844-846)Att>Ttt	p.I282F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, 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)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACAGTTGTGATTCCCATGCT	0.463										HNSCC(27;0.073)																																							0													68	65	66					11																	55595538		2200	4296	6496	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.844A>T	11.37:g.55595538A>T	ENSP00000367650:p.Ile282Phe		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I282F	ENST00000378397.1	37	c.844	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	16.64	3.180605	0.57800	.	.	ENSG00000205030	ENST00000378397	T	0.37411	1.2	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000067	T	0.62368	0.2422	M	0.87682	2.9	0.30362	N	0.783741	D	0.89917	1.0	D	0.97110	1.0	T	0.68112	-0.5495	10	0.72032	D	0.01	-50.3468	10.078	0.42373	0.8496:0.0:0.0:0.1504	.	282	Q8NGL0	OR5L2_HUMAN	F	282	ENSP00000367650:I282F	ENSP00000367650:I282F	I	+	1	0	OR5L2	55352114	0.000000	0.05858	0.999000	0.59377	0.725000	0.41563	0.327000	0.19663	2.061000	0.61500	0.439000	0.28862	ATT	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000205030		0.463	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1		0	51	0	A	NM_001004739		55595538	1			no_errors	ENST00000378397	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.651	T	T	55595538	A	T	55595538	3	4	167	1	0	0	0	0	1	0	0	0	11210	333	12	5	846	5	OR5L2	11	55595538	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	23475582	55595538	79410978	91	42097											
MED19	219541	genome.wustl.edu	37	chr11	57472550	57472550	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagagcggaggctgctgttAtcatgggaaccaggcagatc	11	7	15	8	1	1	2	1	0	0	2	2	5	1	4	1	4	3	4	1	4	2	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:57472550A>G	ENST00000431606.2	-	2	398	c.369T>C	c.(367-369)gaT>gaC	p.D123D	MED19_ENST00000337672.2_Silent_p.D123D			A0JLT2	MED19_HUMAN	mediator complex subunit 19	123						mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						GGCTGCTGTTATCATGGGAAC	0.507																																																	0													99	96	97					11																	57472550		2201	4296	6497	SO:0001819	synonymous_variant	0			AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000431606.2:c.369T>C	11.37:g.57472550A>G			Q8IV02|Q8IZD1	Silent	SNP	pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34	p.D123	ENST00000431606.2	37	c.369		11																																																																																			MED19	-	pfam_Mediator_Med19_met	ENSG00000156603		0.507	MED19-002	KNOWN	basic|appris_principal	protein_coding	MED19	HGNC	protein_coding	OTTHUMT00000393702.1	-	0	91	0	A	NM_153450		57472550	-1	tier1	-	no_errors	ENST00000431606	ensembl	human	known	74_37	silent	15.66	70	13	SNP	0.995	G	G	57472550	A	G	57472550	2	3	167	1	0	0	0	0	0	0	0	1	9475	446	16	4		4	MED19	11	57472550	Silent	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	1877012	57472550	77533966	92	42098											
CATSPER1	117144	genome.wustl.edu	37	chr11	65793203	65793203	+	Silent	SNP	G	G	A	0	0	1	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	acttggtgatggtggggccaGccacggtgggggacttggtg	5	9	20	7	1	0	1	0	1	0	0	0	2	0	2	2	8	1	0	2	8	0	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:65793203G>A	ENST00000312106.5	-	1	785	c.648C>T	c.(646-648)ggC>ggT	p.G216G		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	216	His-rich.				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						GGTGGGGCCAGCCACGGTGGG	0.597																																																	0													82	72	75					11																	65793203		2201	4296	6497	SO:0001819	synonymous_variant	0			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.648C>T	11.37:g.65793203G>A			Q96P76	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.G216	ENST00000312106.5	37	c.648	CCDS8127.1	11																																																																																			CATSPER1	-	NULL	ENSG00000175294		0.597	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1	-	0	89	0	G	NM_053054		65793203	-1	tier1	-	no_errors	ENST00000312106	ensembl	human	known	74_37	silent	5.61	100	6	SNP	0.000	A	A	65793203	G	A	65793203	2	1	167	1	0	0	0	0	0	0	0	1	2694	958	34	3		3	CATSPER1	11	65793203	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	8320653	65793203	69213313	93	42099											
RIN1	9610	genome.wustl.edu	37	chr11	66100109	66100109	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgttgggctgggtcactcGgaacttggtggcacagagct	7	10	16	8	1	1	1	1	0	0	1	2	2	1	2	0	5	2	4	0	5	1	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:66100109G>T	ENST00000311320.4	-	10	2116	c.1990C>A	c.(1990-1992)Cga>Aga	p.R664R	RIN1_ENST00000524804.1_5'UTR|RIN1_ENST00000424433.2_Silent_p.R559R|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Silent_p.R498R	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	664	Ras and 14-3-3 protein binding region.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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						TGGGTCACTCGGAACTTGGTG	0.647																																																	0													107	114	111					11																	66100109		2200	4295	6495	SO:0001819	synonymous_variant	0			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.1990C>A	11.37:g.66100109G>T			O15010|Q00427|Q96CC8	Silent	SNP	pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.R664	ENST00000311320.4	37	c.1990	CCDS31614.1	11																																																																																			RIN1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000174791		0.647	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	-	0	83	0	G	NM_004292		66100109	-1	tier1	-	no_errors	ENST00000311320	ensembl	human	known	74_37	silent	15.00	68	12	SNP	1.000	T	T	66100109	G	T	66100109	2	4	167	1	0	0	0	0	0	0	0	1	13416	1124	39	2		2	RIN1	11	66100109	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	306906	66100109	68906407	94	42100											
NAALAD2	10003	genome.wustl.edu	37	chr11	89896165	89896165	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataaaattacaaggatttaCaatgtagttggaactatcag	18	12	7	4	0	1	0	1	0	0	0	1	2	1	2	0	2	3	2	0	2	10	7			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:89896165C>T	ENST00000534061.1	+	9	1268	c.1038C>T	c.(1036-1038)taC>taT	p.Y346Y	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.Y313Y|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	346	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)				CAAGGATTTACAATGTAGTTG	0.264																																																	0													71	84	80					11																	89896165		2199	4278	6477	SO:0001819	synonymous_variant	0			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.1038C>T	11.37:g.89896165C>T			B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.Y346	ENST00000534061.1	37	c.1038	CCDS8288.1	11																																																																																			NAALAD2	-	NULL	ENSG00000077616		0.264	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	-	0	225	0	C	NM_005467		89896165	1	tier1	-	no_errors	ENST00000534061	ensembl	human	known	74_37	silent	42.06	73	53	SNP	1.000	T	T	89896165	C	T	89896165	2	4	167	1	0	0	0	0	0	0	0	1	10166	489	17	3		3	NAALAD2	11	89896165	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	23796056	89896165	45110351	95	42101											
CASP1	834	genome.wustl.edu	37	chr11	104903833	104903833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagagtcttgcatattaaGgtaatttccagatgtttgat	11	17	9	4	0	1	3	0	2	1	2	2	4	2	3	1	1	1	3	1	1	3	7			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:104903833G>T	ENST00000533400.1	-	3	330	c.295C>A	c.(295-297)Ctt>Att	p.L99I	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.L60I|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Intron|CASP1_ENST00000527979.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.L99I|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.L99I	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	99					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TGCATATTAAGGTAATTTCCA	0.363																																					NSCLC(41;1246 1743 4934)												0													91	97	95					11																	104903833		2202	4299	6501	SO:0001583	missense	0			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.295C>A	11.37:g.104903833G>T	ENSP00000433138:p.Leu99Ile		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.L99I	ENST00000533400.1	37	c.295	CCDS8330.1	11	.	.	.	.	.	.	.	.	.	.	.	3.736	-0.054631	0.07362	.	.	ENSG00000137752	ENST00000533400;ENST00000436863;ENST00000528974	T;T;T	0.02446	4.99;4.99;4.29	3.04	-2.1	0.07210	.	2.097120	0.03917	U	0.282825	T	0.02380	0.0073	L	0.39633	1.23	0.09310	N	1	B;B;B	0.33022	0.294;0.394;0.044	B;B;B	0.22152	0.038;0.031;0.027	T	0.45056	-0.9287	10	0.21540	T	0.41	.	4.0434	0.09761	0.2427:0.2165:0.5407:0.0	.	99;60;99	B4DKN4;B4DVD8;P29466	.;.;CASP1_HUMAN	I	99;99;60	ENSP00000433138:L99I;ENSP00000410076:L99I;ENSP00000434259:L60I	ENSP00000410076:L99I	L	-	1	0	CASP1	104409043	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.267000	0.02839	-0.332000	0.08489	-0.253000	0.11424	CTT	CASP1	-	pirsf_Caspase_IL-1_beta	ENSG00000137752		0.363	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1	-	0	66	0	G	NM_033292		104903833	-1	tier1	-	no_errors	ENST00000436863	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	T	T	104903833	G	T	104903833	3	4	167	1	0	0	0	0	1	0	0	0	2675	1000	35	3	947	3	CASP1	11	104903833	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	15007668	104903833	30102683	96	42102											
GUCY1A2	2977	genome.wustl.edu	37	chr11	106856796	106856796	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaaatcaatttttacttacCcaataacttgatgttcataa	15	15	3	8	1	2	1	2	1	0	0	2	2	2	1	1	0	3	1	1	0	7	8			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr11:106856796C>G	ENST00000526355.2	-	2	833	c.365G>C	c.(364-366)gGt>gCt	p.G122A	GUCY1A2_ENST00000282249.2_Splice_Site_p.G122A|GUCY1A2_ENST00000347596.2_Splice_Site_p.G122A	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	122					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)	TTTTACTTACCCAATAACTTG	0.338																																																	0													109	107	108					11																	106856796		2201	4298	6499	SO:0001630	splice_region_variant	0			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.365+1G>C	11.37:g.106856796C>G			A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G122A	ENST00000526355.2	37	c.365	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224007	0.58668	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86230	-1.77;-2.09;-1.77	5.32	5.32	0.75619	.	0.000000	0.40469	U	0.001094	D	0.86020	0.5833	L	0.36672	1.1	0.48395	D	0.999645	P;P;P	0.47762	0.9;0.879;0.664	P;P;B	0.49799	0.622;0.488;0.427	D	0.84606	0.0675	9	.	.	.	.	16.1006	0.81169	0.0:1.0:0.0:0.0	.	122;122;122	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	A	122	ENSP00000431245:G122A;ENSP00000282249:G122A;ENSP00000344874:G122A	.	G	-	2	0	GUCY1A2	106362006	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.050000	0.64251	2.654000	0.90174	0.557000	0.71058	GGT	GUCY1A2	-	NULL	ENSG00000152402		0.338	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	-	0	85	0	C		Missense_Mutation	106856796	-1	tier1	-	no_errors	ENST00000282249	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G	G	106856796	C	G	106856796	5	3	167	1	0	0	0	0	0	0	1	0	6920	637	22	5	1861	5	GUCY1A2	11	106856796	Splice_Site	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	1952963	106856796	28149720	97	42103											
LRP6	4040	genome.wustl.edu	37	chr12	12284914	12284914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcacattcagtaaacccatCgcaccgccaagccacaggga	13	6	7	15	2	2	0	2	0	0	0	3	1	2	1	4	1	2	2	4	1	3	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:12284914C>T	ENST00000261349.4	-	18	3887	c.3811G>A	c.(3811-3813)Gat>Aat	p.D1271N	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1271	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)	p.D1271H(1)		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)				GTAAACCCATCGCACCGCCAA	0.488																																																	1	Substitution - Missense(1)	endometrium(1)											103	91	95					12																	12284914		2203	4300	6503	SO:0001583	missense	0			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.3811G>A	12.37:g.12284914C>T	ENSP00000261349:p.Asp1271Asn		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D1271N	ENST00000261349.4	37	c.3811	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.425203	0.96131	.	.	ENSG00000070018	ENST00000261349	D	0.98362	-4.89	5.92	5.92	0.95590	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000006	D	0.98890	0.9624	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99282	1.0896	10	0.49607	T	0.09	.	20.3081	0.98638	0.0:1.0:0.0:0.0	.	1271	O75581	LRP6_HUMAN	N	1271	ENSP00000261349:D1271N	ENSP00000261349:D1271N	D	-	1	0	LRP6	12176181	1.000000	0.71417	0.971000	0.41717	0.830000	0.47004	7.487000	0.81328	2.795000	0.96236	0.655000	0.94253	GAT	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000070018		0.488	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	-	0	50	0	C			12284914	-1	tier1	-	no_errors	ENST00000261349	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	12284914	C	T	12284914	3	4	167	1	0	0	0	0	1	0	0	0	8997	884	31	1	1054	1	LRP6	12	12284914	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09		12284914	121566981	98	42104											
PRICKLE1	144165	genome.wustl.edu	37	chr12	42854063	42854063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcagggcattgtcggagcGggactttctacttctccggc	6	12	12	11	3	3	0	1	0	2	0	5	2	3	2	1	4	2	1	1	4	1	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:42854063G>T	ENST00000455697.1	-	8	2329	c.2044C>A	c.(2044-2046)Cgc>Agc	p.R682S	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R682S|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R682S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R682S|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R682S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	682	Arg/His-rich.		R -> C (may be associated with NTD). {ECO:0000269|PubMed:21901791}.		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)		TTGTCGGAGCGGGACTTTCTA	0.502																																																	0													57	59	58					12																	42854063		2203	4300	6503	SO:0001583	missense	0			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.2044C>A	12.37:g.42854063G>T	ENSP00000401060:p.Arg682Ser		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R682S	ENST00000455697.1	37	c.2044	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356311	0.61293	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8	5.53	4.62	0.57501	.	0.047526	0.85682	D	0.000000	D	0.92286	0.7553	M	0.72894	2.215	0.58432	D	0.999999	D	0.60575	0.988	P	0.51582	0.674	D	0.93106	0.6512	10	0.87932	D	0	-7.5175	15.2779	0.73756	0.0706:0.0:0.9294:0.0	.	682	Q96MT3	PRIC1_HUMAN	S	682	ENSP00000401060:R682S;ENSP00000398947:R682S;ENSP00000448359:R682S;ENSP00000345064:R682S;ENSP00000449819:R682S	ENSP00000345064:R682S	R	-	1	0	PRICKLE1	41140330	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	7.530000	0.81962	2.759000	0.94783	0.650000	0.86243	CGC	PRICKLE1	-	NULL	ENSG00000139174		0.502	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1		0	74	0	G			42854063	-1			no_errors	ENST00000345127	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	42854063	G	T	42854063	3	4	167	1	0	0	0	0	1	0	0	0	12528	1116	39	2	455	2	PRICKLE1	12	42854063	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	30569149	42854063	90997832	99	42105											
INHBE	83729	genome.wustl.edu	37	chr12	57849593	57849593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccagggaatggggaggagGtcatcagctttgctactgtc	8	10	14	9	0	2	0	2	0	0	0	4	3	3	3	1	5	3	2	1	5	2	2	rs374068733		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:57849593G>T	ENST00000266646.2	+	1	490	c.274G>T	c.(274-276)Gtc>Ttc	p.V92F	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	92					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TGGGGAGGAGGTCATCAGCTT	0.607											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								G	PHE/VAL	0,4406		0,0,2203	57	63	61		274	1.4	1	12		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	INHBE	NM_031479.3	50	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	92/351	57849593	1,13005	2203	4300	6503	SO:0001583	missense	0				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.274G>T	12.37:g.57849593G>T	ENSP00000266646:p.Val92Phe	1026		Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu	p.V92F	ENST00000266646.2	37	c.274	CCDS8939.1	12	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509306	0.64522	0.0	1.16E-4	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.84730	-1.89;-1.02	4.4	1.41	0.22369	Transforming growth factor-beta, N-terminal (1);	0.119937	0.53938	D	0.000054	T	0.81786	0.4896	M	0.65975	2.015	0.31578	N	0.6555	P	0.38250	0.624	B	0.41332	0.354	T	0.80369	-0.1411	10	0.66056	D	0.02	-4.6066	5.5018	0.16833	0.3819:0.0:0.6181:0.0	.	92	P58166	INHBE_HUMAN	F	37;92	ENSP00000450212:V37F;ENSP00000266646:V92F	ENSP00000266646:V92F	V	+	1	0	INHBE	56135860	0.995000	0.38212	0.998000	0.56505	0.999000	0.98932	0.735000	0.26115	0.527000	0.28560	0.655000	0.94253	GTC	INHBE	-	pfam_TGF-b_N	ENSG00000139269		0.607	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBE	HGNC	protein_coding	OTTHUMT00000406773.1	-	0	51	0	G	NM_031479		57849593	1	tier1	-	no_errors	ENST00000266646	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.994	T	T	57849593	G	T	57849593	3	4	167	1	0	0	0	0	1	0	0	0	7771	1261	44	3	276	3	INHBE	12	57849593	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	14995530	57849593	76002302	100	42106											
C12orf64	283310	genome.wustl.edu	37	chr12	80730335	80730335	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatgttccatgaatcaGgtgggtcataatttattttt	13	16	8	4	0	2	1	2	1	0	0	3	2	3	1	1	2	0	1	1	2	5	6			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:80730335G>T	ENST00000547103.1	+	39	4686	c.4680G>T	c.(4678-4680)caG>caT	p.Q1560H	OTOGL_ENST00000458043.2_Splice_Site_p.Q1572H			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1560	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						CCATGAATCAGGTGGGTCATA	0.358																																																	0													67	65	65					12																	80730335		1833	4084	5917	SO:0001630	splice_region_variant	0			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.4680+1G>T	12.37:g.80730335G>T			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.Q1572H	ENST00000547103.1	37	c.4716		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.97|17.97	3.519136|3.519136	0.64634|0.64634	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043|ENST00000298820	T;T|.	0.61392|.	0.11;0.11|.	5.49|5.49	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	T|T	0.64832|0.64832	0.2634|0.2634	L|L	0.57536|0.57536	1.79|1.79	0.36973|0.36973	D|D	0.893917|0.893917	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67562|0.67562	-0.5639|-0.5639	7|5	0.42905|.	T|.	0.14|.	.|.	14.054|14.054	0.64756|0.64756	0.0:0.0:0.7422:0.2578|0.0:0.0:0.7422:0.2578	.|.	.|.	.|.	.|.	H|I	1560;1572|15	ENSP00000447211:Q1560H;ENSP00000400895:Q1572H|.	ENSP00000400895:Q1572H|.	Q|R	+|+	3|2	2|0	OTOGL|OTOGL	79254466|79254466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	5.563000|5.563000	0.67352|0.67352	2.732000|2.732000	0.93576|0.93576	0.650000|0.650000	0.86243|0.86243	CAG|AGA	OTOGL	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000165899		0.358	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	-	0	54	0	G	NM_173591	Missense_Mutation	80730335	1	tier1	-	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	80730335	G	T	80730335	5	4	167	1	0	0	0	0	0	0	1	0	1712	1014	35	3	4870	3	C12orf64	12	80730335	Splice_Site	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	22880742	80730335	53121560	101	42107											
MYBPC1	4604	genome.wustl.edu	37	chr12	102046465	102046465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttccttaggatccacaaGttagtgatagccaatgccct	10	13	8	10	0	0	1	0	1	0	0	2	2	2	2	4	1	2	2	4	1	5	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:102046465G>T	ENST00000550270.1	+	15	1461	c.1461G>T	c.(1459-1461)aaG>aaT	p.K487N	MYBPC1_ENST00000549145.1_Missense_Mutation_p.K500N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.K487N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.K487N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.K487N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.K512N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.K468N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.K461N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Missense_Mutation_p.K475N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.K487N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.K474N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.K512N|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Missense_Mutation_p.K473N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.K487N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.K388N|RP11-755O11.2_ENST00000552081.1_RNA			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	487	Ig-like C2-type 4.				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						GGATCCACAAGTTAGTGATAG	0.383																																																	0													206	192	197					12																	102046465		2203	4300	6503	SO:0001583	missense	0				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.1461G>T	12.37:g.102046465G>T	ENSP00000449702:p.Lys487Asn		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K512N	ENST00000550270.1	37	c.1536	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301103	0.60195	.	.	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	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.98	-0.0561	0.13806	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.232564	0.29775	N	0.011227	T	0.68595	0.3018	L	0.37850	1.14	0.34876	D	0.744051	B;B;P;B;B;B;B;B;P;B	0.48350	0.316;0.316;0.875;0.316;0.177;0.316;0.27;0.316;0.909;0.27	B;B;P;B;B;P;B;B;P;B	0.61328	0.395;0.428;0.827;0.428;0.199;0.497;0.208;0.375;0.887;0.363	T	0.74711	-0.3573	10	0.87932	D	0	.	11.2318	0.48916	0.5305:0.0:0.4695:0.0	.	468;475;487;487;474;461;487;487;512;512	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	N	461;487;487;487;474;473;512;500;487;512;487;468;475;512;388;487	ENSP00000448175:K461N;ENSP00000400908:K487N;ENSP00000388989:K487N;ENSP00000353822:K487N;ENSP00000376665:K474N;ENSP00000447362:K473N;ENSP00000354845:K512N;ENSP00000447660:K500N;ENSP00000447900:K487N;ENSP00000440034:K487N;ENSP00000446128:K468N;ENSP00000442847:K475N;ENSP00000354849:K512N;ENSP00000447116:K388N;ENSP00000449702:K487N	ENSP00000353822:K487N	K	+	3	2	MYBPC1	100570596	0.997000	0.39634	0.999000	0.59377	0.736000	0.42039	0.405000	0.21015	0.051000	0.15978	0.655000	0.94253	AAG	MYBPC1	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000196091		0.383	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	-	0	83	0	G			102046465	1	tier1	-	no_errors	ENST00000361466	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.903	T	T	102046465	G	T	102046465	3	4	167	1	0	0	0	0	1	0	0	0	10049	1020	36	3	1602	3	MYBPC1	12	102046465	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	21316130	102046465	31805430	102	42108											
CMKLR1	1240	genome.wustl.edu	37	chr12	108685821	108685821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ggggttcatgcagctgttggCaatggcaagggcagtggcca	8	8	17	8	0	1	0	1	0	0	0	1	0	1	0	1	6	2	7	1	6	2	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:108685821C>T	ENST00000312143.7	-	3	1282	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	CMKLR1_ENST00000552995.1_Missense_Mutation_p.A305T|CMKLR1_ENST00000412676.1_Missense_Mutation_p.A307T|CMKLR1_ENST00000550402.1_Missense_Mutation_p.A307T|CMKLR1_ENST00000397688.2_Missense_Mutation_p.A305T	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	307					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.A305S(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CAGCTGTTGGCAATGGCAAGG	0.552																																																	1	Substitution - Missense(1)	endometrium(1)											66	70	68					12																	108685821		2048	4197	6245	SO:0001583	missense	0			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.919G>A	12.37:g.108685821C>T	ENSP00000311733:p.Ala307Thr		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.A307T	ENST00000312143.7	37	c.919	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	c	10.97	1.502374	0.26949	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.33	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.808524	0.11313	N	0.576882	T	0.28764	0.0713	L	0.37507	1.11	0.34084	D	0.659922	B	0.18013	0.025	B	0.21151	0.033	T	0.29458	-1.0011	10	0.29301	T	0.29	.	9.8868	0.41266	0.1764:0.7379:0.0:0.0857	.	307	Q99788	CML1_HUMAN	T	307;307;305;305;307	ENSP00000311733:A307T;ENSP00000401293:A307T;ENSP00000380803:A305T;ENSP00000447579:A305T;ENSP00000449716:A307T	ENSP00000311733:A307T	A	-	1	0	CMKLR1	107209951	0.167000	0.22975	0.977000	0.42913	0.825000	0.46686	0.776000	0.26704	1.249000	0.43950	0.550000	0.68814	GCC	CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000174600		0.552	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1		0	41	0	C			108685821	-1			no_errors	ENST00000312143	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.439	T	T	108685821	C	T	108685821	3	4	167	1	0	0	0	0	1	0	0	0	3586	710	25	3	206	3	CMKLR1	12	108685821	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	6639356	108685821	25166074	103	42109											
CCDC63	160762	genome.wustl.edu	37	chr12	111317835	111317835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcactgcctgttgatGgagaagaaaaccatgaactt	13	9	9	10	0	0	4	0	2	0	2	1	5	1	4	3	1	4	2	3	1	4	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:111317835G>T	ENST00000308208.5	+	6	857	c.615G>T	c.(613-615)atG>atT	p.M205I	CCDC63_ENST00000545036.1_Missense_Mutation_p.M165I|CCDC63_ENST00000552694.1_Missense_Mutation_p.M126I|CCDC63_ENST00000550317.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	205										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						GCCTGTTGATGGAGAAGAAAA	0.527																																																	0													164	160	161					12																	111317835		2203	4300	6503	SO:0001583	missense	0			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.615G>T	12.37:g.111317835G>T	ENSP00000312399:p.Met205Ile		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.M205I	ENST00000308208.5	37	c.615	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	G	4.670	0.124564	0.08931	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.30182	1.54;1.54;1.54	5.04	-3.6	0.04570	.	1.584860	0.03285	N	0.186710	T	0.24084	0.0583	L	0.56769	1.78	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.10567	-1.0624	10	0.21014	T	0.42	.	1.1314	0.01746	0.3306:0.2557:0.2835:0.1302	.	205	Q8NA47	CCD63_HUMAN	I	165;205;126	ENSP00000445881:M165I;ENSP00000312399:M205I;ENSP00000450217:M126I	ENSP00000312399:M205I	M	+	3	0	CCDC63	109802218	0.081000	0.21417	0.004000	0.12327	0.051000	0.14879	0.201000	0.17276	-0.725000	0.04901	0.462000	0.41574	ATG	CCDC63	-	NULL	ENSG00000173093		0.527	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2		0	49	0	G	NM_152591		111317835	1			no_errors	ENST00000308208	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.006	T	T	111317835	G	T	111317835	3	4	167	1	0	0	0	0	1	0	0	0	2841	1348	47	3	633	3	CCDC63	12	111317835	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	2632014	111317835	22534060	104	42110											
NOS1	4842	genome.wustl.edu	37	chr12	117718598	117718598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgtagccagcgtagcGgatgagctgggagttccaga	8	9	15	9	2	0	2	0	1	0	1	1	4	1	4	2	2	5	5	2	2	2	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:117718598G>A	ENST00000338101.4	-	7	1460	c.1456C>T	c.(1456-1458)Cgc>Tgc	p.R486C	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R486C			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCAGCGTAGCGGATGAGCTGG	0.632																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													59	70	66					12																	117718598		2103	4250	6353	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1456C>T	12.37:g.117718598G>A	ENSP00000337459:p.Arg486Cys			Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R486C	ENST00000338101.4	37	c.1456	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566130	0.86439	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.51325	0.71;0.71	5.14	4.21	0.49690	Nitric oxide synthase, oxygenase domain (3);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84247	0.0475	10	0.87932	D	0	-22.6727	15.1631	0.72801	0.0:0.0:0.8587:0.1413	.	486	P29475	NOS1_HUMAN	C	486	ENSP00000320758:R486C;ENSP00000337459:R486C	ENSP00000320758:R486C	R	-	1	0	NOS1	116202981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.253000	0.65452	2.653000	0.90120	0.563000	0.77884	CGC	NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000089250		0.632	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	-	0	137	0	G			117718598	-1	tier1	-	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	11.50	100	13	SNP	1.000	A	A	117718598	G	A	117718598	3	1	167	1	0	0	0	0	1	0	0	0	10580	1116	39	1	2936	1	NOS1	12	117718598	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	6400763	117718598	16133297	105	42111											
VSIG10	54621	genome.wustl.edu	37	chr12	118506398	118506398	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	catgacatcatccatgttttGtcccctaatttccaaagggg	10	13	7	11	0	1	1	1	1	0	0	4	1	4	1	4	2	0	1	4	2	2	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:118506398G>T	ENST00000359236.5	-	8	1627	c.1351C>A	c.(1351-1353)Caa>Aaa	p.Q451K		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	451						integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TCCATGTTTTGTCCCCTAATT	0.453																																																	0													54	46	49					12																	118506398		1930	4127	6057	SO:0001583	missense	0				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.1351C>A	12.37:g.118506398G>T	ENSP00000352172:p.Gln451Lys		Q9NWQ7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.Q451K	ENST00000359236.5	37	c.1351	CCDS44992.1	12	.	.	.	.	.	.	.	.	.	.	G	10.99	1.505932	0.26949	.	.	ENSG00000176834	ENST00000359236	T	0.53206	0.63	4.88	3.96	0.45880	.	0.000000	0.38326	N	0.001738	T	0.40886	0.1135	M	0.63428	1.95	0.26480	N	0.975128	P	0.38922	0.651	B	0.32677	0.15	T	0.32929	-0.9888	10	0.37606	T	0.19	3.748	11.2662	0.49112	0.0:0.1852:0.8148:0.0	.	451	Q8N0Z9	VSI10_HUMAN	K	451	ENSP00000352172:Q451K	ENSP00000352172:Q451K	Q	-	1	0	VSIG10	116990781	1.000000	0.71417	0.995000	0.50966	0.765000	0.43378	3.518000	0.53451	1.137000	0.42214	0.563000	0.77884	CAA	VSIG10	-	NULL	ENSG00000176834		0.453	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2		0	37	0	G	NM_019086		118506398	-1			no_errors	ENST00000359236	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.998	T	T	118506398	G	T	118506398	3	4	167	1	0	0	0	0	1	0	0	0	17272	1386	48	3	279	3	VSIG10	12	118506398	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	787800	118506398	15345497	106	42112											
EIF2B1	1967	genome.wustl.edu	37	chr12	124107310	124107310	+	Splice_Site	SNP	T	T	A	0	1	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	ccatctggttggttccaatcTgggaaggcagaaaatggaat	12	10	12	7	0	2	1	0	0	2	1	3	3	3	3	2	5	0	3	2	5	5	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr12:124107310T>A	ENST00000424014.2	-	8	836		c.e8-2		EIF2B1_ENST00000539951.1_Splice_Site	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa						cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGTTCCAATCTGGGAAGGCAG	0.488																																																	0													93	91	92					12																	124107310		2203	4300	6503	SO:0001630	splice_region_variant	0			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.628-2A>T	12.37:g.124107310T>A			A6NLY9|B4DGX0|Q3SXP4	Splice_Site	SNP	-	e8-2	ENST00000424014.2	37	c.628-2	CCDS31924.1	12	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774423	0.90108	.	.	ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF2B1	122673263	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	7.973000	0.88032	2.285000	0.76669	0.533000	0.62120	.	EIF2B1	-	-	ENSG00000111361		0.488	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B1	HGNC	protein_coding	OTTHUMT00000400628.1	-	0	51	0	T	NM_001414	Intron	124107310	-1	tier1	-	no_errors	ENST00000424014	ensembl	human	known	74_37	splice_site	8.33	43	4	SNP	1.000	A	A	124107310	T	A	124107310	5	1	167	1	0	0	0	0	0	0	1	0	5014	1594	55	5	299	5	EIF2B1	12	124107310	Splice_Site	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	5600912	124107310	9744585	107	42113											
GJA3	2700	genome.wustl.edu	37	chr13	20717062	20717062	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcggtggctccttGgggctggggctctctctctt	0	15	14	12	1	2	0	0	0	2	0	6	0	4	0	2	6	1	3	2	6	0	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr13:20717062G>T	ENST00000241125.3	-	2	542	c.366C>A	c.(364-366)ccC>ccA	p.P122P		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	122					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)		GTGGCTCCTTGGGGCTGGGGC	0.632																																																	0													17	19	18					13																	20717062		2184	4286	6470	SO:0001819	synonymous_variant	0			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.366C>A	13.37:g.20717062G>T			Q0VAB7|Q9H537	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46	p.P122	ENST00000241125.3	37	c.366	CCDS9289.1	13																																																																																			GJA3	-	NULL	ENSG00000121743		0.632	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA3	HGNC	protein_coding	OTTHUMT00000044059.3	-	0	45	0	G	NM_021954		20717062	-1	tier1	-	no_errors	ENST00000241125	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.000	T	T	20717062	G	T	20717062	2	4	167	1	0	0	0	0	0	0	0	1	6428	1335	47	3		3	GJA3	13	20717062	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09		20717062	94452816	108	42114											
KIAA1704	55425	genome.wustl.edu	37	chr13	45602138	45602138	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggcaatatgtttttataAgtaagtatatttcagtgagg	15	15	9	2	0	1	1	1	1	0	0	1	1	1	1	0	2	0	4	0	2	8	9			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr13:45602138A>G	ENST00000361121.2	+	8	1058	c.1023A>G	c.(1021-1023)taA>taG	p.*341*	GPALPP1_ENST00000357537.3_Splice_Site_p.*171*|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000379151.4_Silent_p.*341*			Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	0																	TGTTTTTATAAGTAAGTATAT	0.289																																																	0													48	56	53					13																	45602138		2201	4296	6497	SO:0001630	splice_region_variant	0			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	ENST00000361121.2:c.1020+1A>G	13.37:g.45602138A>G			A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Silent	SNP	pfam_DUF3752	p.*341	ENST00000361121.2	37	c.1023	CCDS9394.1	13																																																																																			GPALPP1	-	NULL	ENSG00000133114		0.289	GPALPP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPALPP1	HGNC	protein_coding		-	0	153	0	A	NM_018559	Silent	45602138	1	tier1	-	no_errors	ENST00000361121	ensembl	human	known	74_37	silent	8.21	123	11	SNP	1.000	G	G	45602138	A	G	45602138	5	3	167	1	0	0	0	0	0	0	1	0	8279	79	3	4	1053	4	KIAA1704	13	45602138	Splice_Site	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	24885076	45602138	69567740	109	42115											
ZC3H13	23091	genome.wustl.edu	37	chr13	46549821	46549821	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgttccctctctctctcccGctccctgtctcgttctcgtt	1	16	5	19	4	4	0	0	0	4	0	11	0	7	0	3	0	0	4	3	0	0	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr13:46549821G>T	ENST00000242848.4	-	12	2413	c.2065C>A	c.(2065-2067)Cgg>Agg	p.R689R	ZC3H13_ENST00000282007.3_Silent_p.R689R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	689	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tctctctcccgctccctgtct	0.498																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													212	123	153					13																	46549821		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2065C>A	13.37:g.46549821G>T			A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R689	ENST00000242848.4	37	c.2065		13																																																																																			ZC3H13	-	NULL	ENSG00000123200		0.498	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1		0	54	0	G	NM_015070		46549821	-1			no_errors	ENST00000242848	ensembl	human	known	74_37	silent	10.00	45	5	SNP	0.999	T	T	46549821	G	T	46549821	2	4	167	1	0	0	0	0	0	0	0	1	17613	1086	38	2		2	ZC3H13	13	46549821	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	947683	46549821	68620057	110	42116											
ATP7B	540	genome.wustl.edu	37	chr13	52549268	52549268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actcttcttcattgctggttCccaggcacgggtaggcaaag	8	11	11	11	1	3	0	1	0	2	0	4	0	4	0	1	4	1	5	1	4	2	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr13:52549268C>T	ENST00000242839.4	-	2	244	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	ATP7B_ENST00000418097.2_Missense_Mutation_p.E30K|ATP7B_ENST00000344297.5_Missense_Mutation_p.E30K|ATP7B_ENST00000400370.3_Missense_Mutation_p.E30K|ATP7B_ENST00000400366.3_Missense_Mutation_p.E30K|ATP7B_ENST00000542656.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.E30K|ATP7B_ENST00000482841.1_5'Flank	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	30					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)	ATTGCTGGTTCCCAGGCACGG	0.428									Wilson disease																																								0													90	88	89					13																	52549268		1894	4109	6003	SO:0001583	missense	0	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.88G>A	13.37:g.52549268C>T	ENSP00000242839:p.Glu30Lys		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.E30K	ENST00000242839.4	37	c.88	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	c	14.15	2.448385	0.43429	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D	0.97256	-3.88;-3.92;-4.02;-3.83;-4.31;-3.9	5.1	4.26	0.50523	.	0.717895	0.14560	N	0.312138	D	0.89781	0.6814	N	0.12182	0.205	0.22552	N	0.998995	B;B;B;P;B;B;B	0.35011	0.091;0.013;0.119;0.48;0.147;0.175;0.009	B;B;B;B;B;B;B	0.34489	0.068;0.004;0.061;0.184;0.027;0.135;0.006	T	0.82090	-0.0629	10	0.23891	T	0.37	-4.2412	1.3439	0.02160	0.1575:0.4564:0.152:0.2341	.	30;30;30;30;30;30;30	E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	K	30	ENSP00000242839:E30K;ENSP00000383217:E30K;ENSP00000342559:E30K;ENSP00000416738:E30K;ENSP00000383221:E30K;ENSP00000393343:E30K	ENSP00000242839:E30K	E	-	1	0	ATP7B	51447269	0.148000	0.22702	0.959000	0.39883	0.875000	0.50365	0.094000	0.15107	1.400000	0.46741	0.651000	0.88453	GAA	ATP7B	-	NULL	ENSG00000123191		0.428	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	-	0	70	0	C	NM_000053		52549268	-1	tier1	-	no_errors	ENST00000242839	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.183	T	T	52549268	C	T	52549268	3	4	167	1	0	0	0	0	1	0	0	0	1192	864	30	3	4389	3	ATP7B	13	52549268	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	5999447	52549268	62620610	111	42117											
CHD8	57680	genome.wustl.edu	37	chr14	21859177	21859177	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcaattctgccttattatTttttttacatctttgccact	7	22	3	9	0	3	0	1	0	2	0	3	0	3	0	2	0	3	1	2	0	4	9			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:21859177T>C	ENST00000557364.1	-	37	7374	c.7111A>G	c.(7111-7113)Aat>Gat	p.N2371D	CHD8_ENST00000399982.2_Missense_Mutation_p.N2371D|CHD8_ENST00000430710.3_Missense_Mutation_p.N2092D|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2371					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)		GCCTTATTATTTTTTTTACAT	0.363																																																	0													101	88	92					14																	21859177		1823	4086	5909	SO:0001583	missense	0			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.7111A>G	14.37:g.21859177T>C	ENSP00000451601:p.Asn2371Asp		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N2371D	ENST00000557364.1	37	c.7111	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	T	13.90	2.373753	0.42105	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553870	D;D;D;T	0.88664	-2.4;-2.41;-2.41;1.94	5.43	4.28	0.50868	.	0.348287	0.28104	N	0.016585	T	0.77011	0.4068	N	0.08118	0	0.30149	N	0.803271	B	0.18310	0.027	B	0.20767	0.031	T	0.73636	-0.3920	10	0.62326	D	0.03	-16.7112	9.4599	0.38778	0.0:0.0:0.2752:0.7248	.	2092	Q9HCK8-2	.	D	2092;2371;2091;2371;148	ENSP00000406288:N2092D;ENSP00000382863:N2371D;ENSP00000451601:N2371D;ENSP00000451071:N148D	ENSP00000262707:N2091D	N	-	1	0	CHD8	20929017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.204000	0.51082	2.274000	0.75844	0.533000	0.62120	AAT	CHD8	-	NULL	ENSG00000100888		0.363	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1		0	48	0	T	NM_020920		21859177	-1			no_errors	ENST00000399982	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	C	C	21859177	T	C	21859177	3	2	167	1	0	0	0	0	1	0	0	0	3338	1841	64	4	642	4	CHD8	14	21859177	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09		21859177	85490363	112	42118											
NFATC4	4776	genome.wustl.edu	37	chr14	24845836	24845836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatggagggcggggctcctCtttctccctggggctgccat	3	11	15	12	1	2	0	0	0	2	0	4	1	3	1	3	6	1	3	3	6	1	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:24845836C>T	ENST00000250373.4	+	9	2534	c.2393C>T	c.(2392-2394)tCt>tTt	p.S798F	NFATC4_ENST00000555453.1_Missense_Mutation_p.S786F|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000557451.1_Missense_Mutation_p.S728F|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000556279.1_Missense_Mutation_p.S830F|NFATC4_ENST00000422617.3_Missense_Mutation_p.S786F|NFATC4_ENST00000555393.1_Missense_Mutation_p.S86F|NFATC4_ENST00000413692.2_Missense_Mutation_p.S861F|NFATC4_ENST00000553708.1_Missense_Mutation_p.S798F|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.S86F|NFATC4_ENST00000553879.1_Missense_Mutation_p.S728F|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.S333F|NFATC4_ENST00000555167.1_Missense_Mutation_p.S333F|NFATC4_ENST00000554344.1_Missense_Mutation_p.S728F|NFATC4_ENST00000424781.2_Missense_Mutation_p.S811F|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000555590.1_Missense_Mutation_p.S811F|NFATC4_ENST00000539237.2_Missense_Mutation_p.S830F	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	798	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGGGCTCCTCTTTCTCCCTG	0.632																																																	0													48	56	54					14																	24845836		2203	4300	6503	SO:0001583	missense	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2393C>T	14.37:g.24845836C>T	ENSP00000250373:p.Ser798Phe		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.S861F	ENST00000250373.4	37	c.2582	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751345	0.49257	.	.	ENSG00000100968	ENST00000413692;ENST00000555590;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000556759;ENST00000555167;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50813	3.12;3.11;3.14;3.13;3.1;3.11;3.14;2.8;2.8;2.83;2.82;2.78;1.42;1.4;0.73;0.83	5.53	5.53	0.82687	.	0.110360	0.41605	D	0.000848	T	0.26159	0.0638	N	0.08118	0	0.29805	N	0.832136	B;B;B;B;P;P;B;B;B	0.36315	0.06;0.25;0.32;0.32;0.547;0.547;0.115;0.25;0.119	B;B;B;B;B;B;B;B;B	0.32533	0.093;0.132;0.147;0.147;0.132;0.132;0.093;0.132;0.07	T	0.24657	-1.0154	10	0.54805	T	0.06	-1.757	10.3996	0.44222	0.0:0.9112:0.0:0.0888	.	786;830;811;811;861;861;786;830;798	Q14934-9;Q14934-4;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934	.;.;.;.;.;.;.;.;NFAC4_HUMAN	F	861;811;811;830;830;798;798;728;728;728;786;786;333;333;86;86	ENSP00000388910:S861F;ENSP00000451224:S811F;ENSP00000388668:S811F;ENSP00000439350:S830F;ENSP00000452270:S830F;ENSP00000250373:S798F;ENSP00000450590:S798F;ENSP00000452349:S728F;ENSP00000450469:S728F;ENSP00000451284:S728F;ENSP00000396788:S786F;ENSP00000450686:S786F;ENSP00000451183:S333F;ENSP00000451395:S333F;ENSP00000451801:S86F;ENSP00000451590:S86F	ENSP00000250373:S798F	S	+	2	0	NFATC4	23915676	0.969000	0.33509	1.000000	0.80357	0.955000	0.61496	1.923000	0.40055	2.605000	0.88082	0.561000	0.74099	TCT	NFATC4	-	NULL	ENSG00000100968		0.632	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	-	0	79	0	C	NM_004554		24845836	1	tier1	-	no_errors	ENST00000413692	ensembl	human	known	74_37	missense	13.41	71	11	SNP	1.000	T	T	24845836	C	T	24845836	3	4	167	1	0	0	0	0	1	0	0	0	10404	913	32	3	2620	3	NFATC4	14	24845836	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	2986659	24845836	82503704	113	42119											
PSMA6	5687	genome.wustl.edu	37	chr14	35783624	35783624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcaaaccttcagaaataGaagttggagtagtgacagtt	15	12	9	5	0	2	3	2	1	0	2	2	4	2	4	1	1	1	3	1	1	5	6			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:35783624G>A	ENST00000261479.4	+	6	766	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	PSMA6_ENST00000555764.1_Missense_Mutation_p.E137K|PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000553809.1_Missense_Mutation_p.E222K|PSMA6_ENST00000540871.1_Missense_Mutation_p.E197K|KIAA0391_ENST00000557565.1_3'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	216					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)		TTCAGAAATAGAAGTTGGAGT	0.363																																																	0													60	56	58					14																	35783624		2203	4299	6502	SO:0001583	missense	0			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.646G>A	14.37:g.35783624G>A	ENSP00000261479:p.Glu216Lys		B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.E216K	ENST00000261479.4	37	c.646	CCDS9655.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.604432	0.96626	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000555764	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.79088	0.4387	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84453	0.0589	10	0.87932	D	0	-33.0763	19.8592	0.96777	0.0:0.0:1.0:0.0	.	216	P60900	PSA6_HUMAN	K	197;216;222;137	ENSP00000444844:E197K;ENSP00000261479:E216K;ENSP00000452603:E222K;ENSP00000452566:E137K	ENSP00000261479:E216K	E	+	1	0	PSMA6	34853375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.852000	0.99516	2.770000	0.95276	0.650000	0.86243	GAA	PSMA6	-	pfam_Proteasome_sua/b	ENSG00000100902		0.363	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSMA6	HGNC	protein_coding	OTTHUMT00000276684.1	-	0	65	0	G			35783624	1	tier1	-	no_errors	ENST00000261479	ensembl	human	known	74_37	missense	11.59	61	8	SNP	1.000	A	A	35783624	G	A	35783624	3	1	167	1	0	0	0	0	1	0	0	0	12713	943	33	3	668	3	PSMA6	14	35783624	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	10937788	35783624	71565916	114	42120											
TRIM9	114088	genome.wustl.edu	37	chr14	51561511	51561511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccggagcccgcggcccgatgGctctggggggattcagactc	5	6	16	14	4	2	1	1	0	1	1	3	4	2	3	3	6	1	1	3	6	0	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:51561511G>T	ENST00000298355.3	-	1	1268	c.147C>A	c.(145-147)agC>agA	p.S49R	TRIM9_ENST00000338969.5_Missense_Mutation_p.S49R|TRIM9_ENST00000360392.4_Missense_Mutation_p.S49R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	49					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CGGCCCGATGGCTCTGGGGGG	0.622																																																	0													18	22	21					14																	51561511		2202	4300	6502	SO:0001583	missense	0			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.147C>A	14.37:g.51561511G>T	ENSP00000298355:p.Ser49Arg		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.S49R	ENST00000298355.3	37	c.147	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335261	0.24253	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.27890	1.64;1.64;1.64	5.53	3.69	0.42338	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	L	0.29908	0.895	0.52099	D	0.999946	P;P;B	0.45715	0.851;0.865;0.06	B;B;B	0.40901	0.343;0.343;0.029	T	0.00857	-1.1538	10	0.28530	T	0.3	.	12.9578	0.58441	0.1506:0.0:0.8494:0.0	.	49;49;49	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	R	49	ENSP00000298355:S49R;ENSP00000342970:S49R;ENSP00000353561:S49R	ENSP00000298355:S49R	S	-	3	2	TRIM9	50631261	1.000000	0.71417	0.993000	0.49108	0.808000	0.45660	4.134000	0.57990	0.319000	0.23209	-1.134000	0.01955	AGC	TRIM9	-	smart_Znf_RING	ENSG00000100505		0.622	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	-	0	186	0	G	NM_015163		51561511	-1	tier1	-	no_errors	ENST00000338969	ensembl	human	known	74_37	missense	61.73	61	100	SNP	1.000	T	T	51561511	G	T	51561511	3	4	167	1	0	0	0	0	1	0	0	0	16597	1194	42	3	2075	3	TRIM9	14	51561511	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	15777887	51561511	55788029	115	42121											
KTN1	3895	genome.wustl.edu	37	chr14	56078803	56078803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcatattttattgttcttAttccttcaatagttattaca	11	20	3	7	0	2	0	1	0	1	0	3	0	3	0	1	0	2	3	1	0	7	11			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:56078803A>G	ENST00000395314.3	+	2	105	c.37A>G	c.(37-39)Att>Gtt	p.I13V	KTN1_ENST00000395308.1_Missense_Mutation_p.I13V|KTN1_ENST00000413890.2_Missense_Mutation_p.I13V|KTN1_ENST00000395309.3_Missense_Mutation_p.I13V|KTN1_ENST00000438792.2_Missense_Mutation_p.I13V|KTN1_ENST00000416613.1_Missense_Mutation_p.I13V|KTN1_ENST00000395311.1_Missense_Mutation_p.I13V	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	13					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TATTGTTCTTATTCCTTCAAT	0.303			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													58	64	62					14																	56078803		2199	4299	6498	SO:0001583	missense	0				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.37A>G	14.37:g.56078803A>G	ENSP00000378725:p.Ile13Val		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.I13V	ENST00000395314.3	37	c.37	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525210	0.27299	.	.	ENSG00000126777	ENST00000557267;ENST00000413890;ENST00000395309;ENST00000555498;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	D;D;D;D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.49	4.35	0.52113	.	0.000000	0.52532	D	0.000062	D	0.96639	0.8903	N	0.08118	0	0.31906	N	0.61527	B;D;B;B	0.57899	0.042;0.981;0.042;0.148	B;D;B;B	0.72075	0.035;0.976;0.035;0.037	D	0.93783	0.7085	10	0.19147	T	0.46	-11.1821	7.2317	0.26046	0.7792:0.0:0.2208:0.0	.	13;13;13;13	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	V	13	ENSP00000451641:I13V;ENSP00000394992:I13V;ENSP00000378720:I13V;ENSP00000451878:I13V;ENSP00000391964:I13V;ENSP00000378725:I13V;ENSP00000378719:I13V;ENSP00000378722:I13V;ENSP00000388807:I13V	ENSP00000378719:I13V	I	+	1	0	KTN1	55148556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.050000	0.57404	2.074000	0.62210	0.482000	0.46254	ATT	KTN1	-	NULL	ENSG00000126777		0.303	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	-	0	93	0	A			56078803	1	tier1	-	no_errors	ENST00000395309	ensembl	human	known	74_37	missense	6.67	70	5	SNP	1.000	G	G	56078803	A	G	56078803	3	3	167	1	0	0	0	0	1	0	0	0	8613	449	16	4	39	4	KTN1	14	56078803	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	4517292	56078803	51270737	116	42122											
SYNE2	23224	genome.wustl.edu	37	chr14	64678706	64678706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaccagagggaagaatttGagggcaccagggagagcatt	14	5	14	8	0	0	4	0	1	0	3	0	6	0	5	3	3	2	2	3	3	3	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:64678706G>C	ENST00000344113.4	+	104	18963	c.18751G>C	c.(18751-18753)Gag>Cag	p.E6251Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.E6210Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2636Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2885Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6251Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E129Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2636Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.E34Q|SYNE2_ENST00000458046.2_5'Flank	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6251					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)		GGAAGAATTTGAGGGCACCAG	0.527																																																	0													136	128	130					14																	64678706		2203	4300	6503	SO:0001583	missense	0			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.18751G>C	14.37:g.64678706G>C	ENSP00000341781:p.Glu6251Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E6251Q	ENST00000344113.4	37	c.18751	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362878	0.61403	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.44	5.44	0.79542	.	0.000000	0.49305	D	0.000149	T	0.63379	0.2506	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.989;1.0;0.997;1.0	D;D;D;D;D	0.83275	0.996;0.914;0.967;0.985;0.992	T	0.65903	-0.6055	10	0.87932	D	0	.	19.6223	0.95663	0.0:0.0:1.0:0.0	.	2636;639;6210;6251;6251	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	Q	6251;2636;6251;6210;6216;2885;2636;129;34	ENSP00000350719:E6251Q;ENSP00000349969:E2636Q;ENSP00000341781:E6251Q;ENSP00000452570:E6210Q;ENSP00000450831:E2885Q;ENSP00000378249:E2636Q;ENSP00000451009:E129Q;ENSP00000450605:E34Q	ENSP00000261678:E6216Q	E	+	1	0	SYNE2	63748459	1.000000	0.71417	0.988000	0.46212	0.941000	0.58515	9.568000	0.98166	2.712000	0.92718	0.561000	0.74099	GAG	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	123	0	G	NM_182914		64678706	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	7.92	92	8	SNP	1.000	C	C	64678706	G	C	64678706	3	2	167	1	0	0	0	0	1	0	0	0	15493	1291	45	5	19161	5	SYNE2	14	64678706	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	8599903	64678706	42670834	117	42123											
AKT1	207	genome.wustl.edu	37	chr14	105238734	105238734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgctgccacacgatacCggcaaagaagcgatgctgca	12	5	11	13	4	0	1	0	0	0	1	0	3	0	1	2	1	6	4	2	1	3	1	rs146483593		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr14:105238734C>T	ENST00000554581.1	-	11	2708	c.1228G>A	c.(1228-1230)Ggt>Agt	p.G410S	AKT1_ENST00000554848.1_Missense_Mutation_p.G410S|AKT1_ENST00000407796.2_Missense_Mutation_p.G410S|AKT1_ENST00000555528.1_Missense_Mutation_p.G410S|AKT1_ENST00000555458.1_Missense_Mutation_p.G105S|AKT1_ENST00000349310.3_Missense_Mutation_p.G410S|AKT1_ENST00000402615.2_Missense_Mutation_p.G410S|AKT1_ENST00000554192.1_Missense_Mutation_p.G97S|AKT1_ENST00000544168.1_Missense_Mutation_p.G348S|RP11-982M15.2_ENST00000557223.1_RNA|AKT1_ENST00000554585.1_5'UTR			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	410	AGC-kinase C-terminal.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|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 lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CACACGATACCGGCAAAGAAG	0.617		1	Mis		"breast, colorectal, ovarian, NSCLC"																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0									SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	142	99	114		1228,1228,1228	-2.1	1	14	dbSNP_134	114	0,8600		0,0,4300	no	missense,missense,missense	AKT1	NM_001014431.1,NM_001014432.1,NM_005163.2	56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	410/481,410/481,410/481	105238734	1,13005	2203	4300	6503	SO:0001583	missense	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.1228G>A	14.37:g.105238734C>T	ENSP00000451828:p.Gly410Ser		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.G410S	ENST00000554581.1	37	c.1228	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	c	6.569	0.473355	0.12461	2.27E-4	0.0	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000555458;ENST00000554192;ENST00000544168;ENST00000554848	T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	3.33	-2.13	0.07144	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.181075	0.47852	N	0.000201	T	0.26521	0.0648	N	0.16833	0.445	0.40163	D	0.977085	B	0.02656	0.0	B	0.04013	0.001	T	0.39742	-0.9599	10	0.02654	T	1	.	11.2415	0.48972	0.0:0.7859:0.0:0.2141	.	410	P31749	AKT1_HUMAN	S	410;410;410;410;410;105;97;348;410	ENSP00000451828:G410S;ENSP00000384293:G410S;ENSP00000270202:G410S;ENSP00000385326:G410S;ENSP00000450688:G410S;ENSP00000451470:G105S;ENSP00000450681:G97S;ENSP00000443897:G348S;ENSP00000451166:G410S	ENSP00000270202:G410S	G	-	1	0	AKT1	104309779	1.000000	0.71417	0.988000	0.46212	0.823000	0.46562	1.117000	0.31234	-0.297000	0.08934	0.401000	0.26515	GGT	AKT1	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C	ENSG00000142208		0.617	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	-	0	71	0	C	NM_005163		105238734	-1	tier1	rs146483593	no_errors	ENST00000349310	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	105238734	C	T	105238734	3	4	167	1	0	0	0	0	1	0	0	0	478	652	23	1	226	1	AKT1	14	105238734	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	40560028	105238734	2110806	118	42124											
ATP10A	57194	genome.wustl.edu	37	chr15	25961902	25961902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtggctgatccggggacGtgacgacgactgtgttgcag	6	10	16	9	5	0	2	0	2	0	0	2	5	1	3	1	3	1	3	1	3	0	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:25961902G>A	ENST00000356865.6	-	9	1862	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	584					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)		ATCCGGGGACGTGACGACGAC	0.592																																																	0													148	133	138					15																	25961902		2203	4300	6503	SO:0001583	missense	0			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.1751C>T	15.37:g.25961902G>A	ENSP00000349325:p.Thr584Met		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.T584M	ENST00000356865.6	37	c.1751	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026546	0.75390	.	.	ENSG00000206190	ENST00000356865	T	0.11604	2.76	5.38	4.44	0.53790	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.111406	0.64402	D	0.000008	T	0.29321	0.0730	M	0.62723	1.935	0.43073	D	0.994716	D	0.76494	0.999	D	0.66716	0.946	T	0.03739	-1.1008	10	0.72032	D	0.01	-20.7898	15.185	0.72993	0.0:0.0:0.858:0.142	.	584	O60312	AT10A_HUMAN	M	584	ENSP00000349325:T584M	ENSP00000349325:T584M	T	-	2	0	ATP10A	23512995	1.000000	0.71417	0.843000	0.33291	0.662000	0.39071	9.539000	0.98076	1.201000	0.43203	0.650000	0.86243	ACG	ATP10A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.592	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0	93	0	G	NM_024490		25961902	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	15.62	54	10	SNP	1.000	A	A	25961902	G	A	25961902	3	1	167	1	0	0	0	0	1	0	0	0	1117	1145	40	1	2800	1	ATP10A	15	25961902	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09		25961902	76569490	119	42125											
ATP10A	57194	genome.wustl.edu	37	chr15	25966869	25966869	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ggaaaaccatcttattctctGtcaaagtgccagttttatct	11	15	6	9	0	4	0	1	0	3	0	5	1	4	1	2	1	2	1	2	1	5	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:25966869G>A	ENST00000356865.6	-	7	1409	c.1298C>T	c.(1297-1299)aCa>aTa	p.T433I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	433					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)		CTTATTCTCTGTCAAAGTGCC	0.483																																																	0													130	116	121					15																	25966869		2203	4300	6503	SO:0001583	missense	0			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.1298C>T	15.37:g.25966869G>A	ENSP00000349325:p.Thr433Ile		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.T433I	ENST00000356865.6	37	c.1298	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019971	0.54576	.	.	ENSG00000206190	ENST00000356865	T	0.73789	-0.78	5.53	4.61	0.57282	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.89478	3.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90793	0.4688	10	0.87932	D	0	-19.9758	16.3483	0.83171	0.0:0.1322:0.8678:0.0	.	433	O60312	AT10A_HUMAN	I	433	ENSP00000349325:T433I	ENSP00000349325:T433I	T	-	2	0	ATP10A	23517962	1.000000	0.71417	0.505000	0.27651	0.257000	0.26127	9.530000	0.98051	1.314000	0.45095	0.549000	0.68633	ACA	ATP10A	-	superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000206190		0.483	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0	93	0	G	NM_024490		25966869	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	5.00	95	5	SNP	0.997	A	A	25966869	G	A	25966869	3	1	167	1	0	0	0	0	1	0	0	0	1117	1377	48	3	3261	3	ATP10A	15	25966869	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	4967	25966869	76564523	120	42126											
GABRA5	2558	genome.wustl.edu	37	chr15	27193280	27193280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaattgacaaaatgtcccGaatcgtattcccagtcttgt	13	12	6	10	2	1	1	0	1	1	0	4	2	3	1	2	0	0	1	2	0	6	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:27193280G>T	ENST00000335625.5	+	11	2177	c.1289G>T	c.(1288-1290)cGa>cTa	p.R430L	GABRA5_ENST00000355395.5_Missense_Mutation_p.R430L|GABRA5_ENST00000400081.3_Missense_Mutation_p.R430L	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	430					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AAAATGTCCCGAATCGTATTC	0.418																																																	0													43	41	42					15																	27193280		1836	4094	5930	SO:0001583	missense	0				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1289G>T	15.37:g.27193280G>T	ENSP00000335592:p.Arg430Leu		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R430L	ENST00000335625.5	37	c.1289	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954783	0.92726	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.84298	-1.83;-1.83;-1.83	5.06	5.06	0.68205	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93595	0.7955	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94674	0.7859	10	0.87932	D	0	.	17.7689	0.88486	0.0:0.0:1.0:0.0	.	430	P31644	GBRA5_HUMAN	L	430	ENSP00000335592:R430L;ENSP00000347557:R430L;ENSP00000382953:R430L	ENSP00000335592:R430L	R	+	2	0	GABRA5	24776026	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.592000	0.98245	2.503000	0.84419	0.655000	0.94253	CGA	GABRA5	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000186297		0.418	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1		0	82	0	G			27193280	1			no_errors	ENST00000335625	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	27193280	G	T	27193280	3	4	167	1	0	0	0	0	1	0	0	0	6188	1058	37	2	1323	2	GABRA5	15	27193280	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	1226411	27193280	75338112	121	42127											
OCA2	4948	genome.wustl.edu	37	chr15	28171314	28171314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcaaaaaacagaagggttgCccattccactctgtgtagaa	14	9	9	9	0	1	2	0	0	1	2	2	2	2	2	2	1	3	3	2	1	6	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:28171314C>T	ENST00000354638.3	-	19	2193	c.2038G>A	c.(2038-2040)Gca>Aca	p.A680T	OCA2_ENST00000353809.5_Missense_Mutation_p.A656T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	680					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAAGGGTTGCCCATTCCACT	0.358									Oculocutaneous Albinism																																								0													111	116	114					15																	28171314		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2038G>A	15.37:g.28171314C>T	ENSP00000346659:p.Ala680Thr		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.A680T	ENST00000354638.3	37	c.2038	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041791	0.75732	.	.	ENSG00000104044	ENST00000354638;ENST00000353809	T;T	0.81330	-1.48;-1.48	5.75	5.75	0.90469	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	N	0.10809	0.05	0.80722	D	1	B;B	0.32968	0.34;0.392	B;B	0.37989	0.171;0.262	T	0.68603	-0.5365	10	0.31617	T	0.26	-15.7923	17.446	0.87579	0.0:1.0:0.0:0.0	.	656;680	Q04671-2;Q04671	.;P_HUMAN	T	680;656	ENSP00000346659:A680T;ENSP00000261276:A656T	ENSP00000261276:A656T	A	-	1	0	OCA2	25844909	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.941000	0.75922	2.725000	0.93324	0.655000	0.94253	GCA	OCA2	-	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.358	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1		0	59	0	C	NM_000275		28171314	-1			no_errors	ENST00000354638	ensembl	human	known	74_37	missense	7.14	51	4	SNP	1.000	T	T	28171314	C	T	28171314	3	4	167	1	0	0	0	0	1	0	0	0	10854	739	26	3	502	3	OCA2	15	28171314	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	978034	28171314	74360078	122	42128											
NOP10	55505	genome.wustl.edu	37	chr15	34634302	34634303	+	Missense_Mutation	DNP	TC	TC	AA																															aggtctgttgtcccatcgggTcaaatttctgctccaggaac																										TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:34634302_34634303TC>AA	ENST00000328848.4	-	2	164_165	c.61_62GA>TT	c.(61-63)GAc>TTc	p.D21F	NUTM1_ENST00000438749.3_5'Flank|NUTM1_ENST00000537011.1_5'Flank|NOP10_ENST00000557912.1_Intron	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN	NOP10 ribonucleoprotein	21					pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA RNP complex (GO:0072588)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	snoRNA binding (GO:0030515)			lung(1)|ovary(1)	2						TCCCATCGGGTCAAATTTCTGC	0.495																																																	0																																										SO:0001583	missense	0			AB043103	CCDS10037.1	15q14-q15	2014-09-17	2012-12-10	2008-10-13	ENSG00000182117	ENSG00000182117			14378	protein-coding gene	gene with protein product	"homolog of yeast Nop10p"	606471	"nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)", "NOP10 ribonucleoprotein homolog (yeast)"	NOLA3		11074001, 9843512	Standard	NM_018648		Approved	NOP10P, MGC70651	uc001zie.1	Q9NPE3	OTTHUMG00000129440	ENST00000328848.4:c.61_62delinsAA	15.37:g.34634302_34634303delinsAA	ENSP00000332198:p.Asp21Phe			Missense_Mutation	SNP	pfam_H/ACA_rnp_Nop10,superfamily_H/ACA_rnp_Nop10	p.D21V|p.D21Y	ENST00000328848.4	37	c.62|c.61	CCDS10037.1	15																																																																																			NOP10	-	pfam_H/ACA_rnp_Nop10,superfamily_H/ACA_rnp_Nop10	ENSG00000182117		0.495	NOP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP10	HGNC	protein_coding	OTTHUMT00000251602.2	-	0	151|148	0	T|C	NM_018648		34634302|34634303	-1	tier1	-	no_errors	ENST00000328848	ensembl	human	known	74_37	missense	12.75|12.87	88	13	SNP	0.726|0.364	A	AA	34634303	TC	AA	34634302	3	1	167	1	0	0	0	0	1	0	0	0	10574	1667	58	5	136	5	NOP10	15	34634302	Missense_Mutation	DNP	TC	TCGA-VR-A8EW-01A-11D-A36J-09	6462988	34634302	67897090	123	42129											
RASGRP1	10125	genome.wustl.edu	37	chr15	38852065	38852065	+	Silent	SNP	T	T	A	0	1	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	atgagatcgtccaggctggcTcctttggctaaatgtcccag	8	11	11	11	1	0	1	0	1	0	1	4	2	3	1	3	3	0	3	3	3	2	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:38852065T>A	ENST00000310803.5	-	2	354	c.177A>T	c.(175-177)ggA>ggT	p.G59G	RASGRP1_ENST00000539159.1_Silent_p.G11G|RASGRP1_ENST00000561180.1_Silent_p.G110G|RASGRP1_ENST00000450598.2_Silent_p.G59G|RASGRP1_ENST00000558164.1_Silent_p.G59G|RASGRP1_ENST00000559830.1_Silent_p.G59G	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	59	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.|Ras exchanger motif region; required for transforming activity. {ECO:0000250}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CCAGGCTGGCTCCTTTGGCTA	0.502																																																	0													77	81	80					15																	38852065		1959	4155	6114	SO:0001819	synonymous_variant	0			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.177A>T	15.37:g.38852065T>A			Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.G59	ENST00000310803.5	37	c.177	CCDS45222.1	15																																																																																			RASGRP1	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000172575		0.502	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRP1	HGNC	protein_coding	OTTHUMT00000418223.1	-	0	77	0	T	NM_005739		38852065	-1	tier1	-	no_errors	ENST00000310803	ensembl	human	known	74_37	silent	37.70	38	23	SNP	1.000	A	A	38852065	T	A	38852065	2	1	167	1	0	0	0	0	0	0	0	1	13119	1538	54	5		5	RASGRP1	15	38852065	Silent	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	4217763	38852065	63679327	124	42130											
MGA	23269	genome.wustl.edu	37	chr15	42058816	42058816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgactctgttggcctggctGaactacccagctctatggat	8	12	10	11	0	2	2	0	2	2	0	2	3	2	3	2	3	3	3	2	3	3	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:42058816G>A	ENST00000570161.1	+	23	8536	c.8536G>A	c.(8536-8538)Gaa>Aaa	p.E2846K	MGA_ENST00000389936.4_Missense_Mutation_p.E2807K|MGA_ENST00000545763.1_Missense_Mutation_p.E2637K|MGA_ENST00000219905.7_Missense_Mutation_p.E2846K|MGA_ENST00000566586.1_Missense_Mutation_p.E2637K			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)	TGGCCTGGCTGAACTACCCAG	0.463																																																	0													130	125	127					15																	42058816		1942	4144	6086	SO:0001583	missense	0			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.8536G>A	15.37:g.42058816G>A	ENSP00000457035:p.Glu2846Lys		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E2846K	ENST00000570161.1	37	c.8536	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901805	0.92035	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85773	-2.0;-1.99;-2.03	5.49	5.49	0.81192	.	0.139045	0.32444	N	0.006081	D	0.87799	0.6268	N	0.24115	0.695	0.34721	D	0.72871	D;D	0.76494	0.997;0.999	D;P	0.68353	0.957;0.907	D	0.90997	0.4839	10	0.87932	D	0	.	19.5721	0.95425	0.0:0.0:1.0:0.0	.	2637;2846	F5H7K2;E7ENI0	.;.	K	2846;2807;2637	ENSP00000219905:E2846K;ENSP00000374586:E2807K;ENSP00000442467:E2637K	ENSP00000219905:E2846K	E	+	1	0	MGA	39846108	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.839000	0.62810	2.857000	0.98124	0.650000	0.86243	GAA	MGA	-	NULL	ENSG00000174197		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	51	0	G	NM_001164273.1		42058816	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	14.63	35	6	SNP	1.000	A	A	42058816	G	A	42058816	3	1	167	1	0	0	0	0	1	0	0	0	9578	1291	45	3	8626	3	MGA	15	42058816	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	3206751	42058816	60472576	125	42131											
AP4E1	23431	genome.wustl.edu	37	chr15	51260514	51260514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctgaaggactcagtcagGgtgcagcgccttacaaacct	10	8	12	11	1	2	1	2	1	0	0	2	2	2	2	2	3	4	2	2	3	3	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:51260514G>C	ENST00000261842.5	+	15	2012	c.1906G>C	c.(1906-1908)Ggt>Cgt	p.G636R	AP4E1_ENST00000560508.1_Missense_Mutation_p.G561R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	636					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)		ACTCAGTCAGGGTGCAGCGCC	0.373																																																	0													51	48	49					15																	51260514		2196	4294	6490	SO:0001583	missense	0			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.1906G>C	15.37:g.51260514G>C	ENSP00000261842:p.Gly636Arg		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.G636R	ENST00000261842.5	37	c.1906	CCDS32240.1	15	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369796	0.82573	.	.	ENSG00000081014	ENST00000261842	T	0.60672	0.17	4.71	4.71	0.59529	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84093	0.0391	10	0.59425	D	0.04	-10.3537	16.6719	0.85269	0.0:0.0:1.0:0.0	.	636	Q9UPM8	AP4E1_HUMAN	R	636	ENSP00000261842:G636R	ENSP00000261842:G636R	G	+	1	0	AP4E1	49047806	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.220000	0.89772	2.157000	0.67596	0.462000	0.41574	GGT	AP4E1	-	superfamily_ARM-type_fold,pirsf_AP4_complex_esu	ENSG00000081014		0.373	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1	-	0	143	0	G			51260514	1	tier1	-	no_errors	ENST00000261842	ensembl	human	known	74_37	missense	31.78	88	41	SNP	0.999	C	C	51260514	G	C	51260514	3	2	167	1	0	0	0	0	1	0	0	0	752	1232	43	5	1964	5	AP4E1	15	51260514	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	9201698	51260514	51270878	126	42132											
HERC1	8925	genome.wustl.edu	37	chr15	64010784	64010784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactttacccatctgtcccGtgatgatgaccttgtttgaa	10	14	7	10	1	1	4	0	4	1	0	2	4	2	4	3	0	2	1	3	0	3	4	rs377537305		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:64010784G>A	ENST00000443617.2	-	21	4054	c.3967C>T	c.(3967-3969)Cgg>Tgg	p.R1323W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1323					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						CATCTGTCCCGTGATGATGAC	0.363																																																	0								G	TRP/ARG	1,3683		0,1,1841	75	64	68		3967	0.8	1	15		68	0,8184		0,0,4092	no	missense	HERC1	NM_003922.3	101	0,1,5933	AA,AG,GG		0.0,0.0271,0.0084	probably-damaging	1323/4862	64010784	1,11867	1842	4092	5934	SO:0001583	missense	0			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.3967C>T	15.37:g.64010784G>A	ENSP00000390158:p.Arg1323Trp		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R1323W	ENST00000443617.2	37	c.3967	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022339	0.75275	2.71E-4	0.0	ENSG00000103657	ENST00000443617	T	0.04156	3.69	5.5	0.844	0.18943	.	0.074111	0.49916	U	0.000137	T	0.06735	0.0172	L	0.44542	1.39	0.46774	D	0.999198	D	0.64830	0.994	P	0.44477	0.451	T	0.24190	-1.0167	10	0.87932	D	0	.	15.3178	0.74095	0.0:0.0:0.2121:0.7879	.	1323	Q15751	HERC1_HUMAN	W	1323	ENSP00000390158:R1323W	ENSP00000390158:R1323W	R	-	1	2	HERC1	61797837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.307000	0.43682	0.234000	0.21139	0.655000	0.94253	CGG	HERC1	-	NULL	ENSG00000103657		0.363	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	76	0	G	NM_003922		64010784	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.996	A	A	64010784	G	A	64010784	3	1	167	1	0	0	0	0	1	0	0	0	7084	1144	40	1	10850	1	HERC1	15	64010784	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	12750270	64010784	38520608	127	42133											
BNC1	646	genome.wustl.edu	37	chr15	83932301	83932301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcactgaccacctgtagggGcatgtcttcatctgagctga	8	12	10	11	0	4	3	2	3	2	0	4	3	4	3	2	2	1	3	2	2	1	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:83932301G>A	ENST00000345382.2	-	4	1787	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S	BNC1_ENST00000569704.1_Missense_Mutation_p.P561S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	568					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACCTGTAGGGGCATGTCTTCA	0.483																																																	0													210	197	201					15																	83932301		2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1702C>T	15.37:g.83932301G>A	ENSP00000307041:p.Pro568Ser		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P568S	ENST00000345382.2	37	c.1702	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354965	0.24512	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.43294	0.95	5.14	3.26	0.37387	.	0.454975	0.24323	N	0.039525	T	0.36717	0.0977	L	0.50333	1.59	0.26566	N	0.973655	P;B	0.49559	0.925;0.008	P;B	0.47075	0.536;0.003	T	0.24333	-1.0163	10	0.05833	T	0.94	-19.1979	10.6747	0.45778	0.0714:0.1325:0.7961:0.0	.	561;568	F5GY04;Q01954	.;BNC1_HUMAN	S	568;561	ENSP00000307041:P568S	ENSP00000307041:P568S	P	-	1	0	BNC1	81723305	1.000000	0.71417	0.152000	0.22495	0.968000	0.65278	5.116000	0.64661	0.736000	0.32559	0.655000	0.94253	CCC	BNC1	-	NULL	ENSG00000169594		0.483	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	-	0	63	0	G	NM_001717		83932301	-1	tier1	-	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.246	A	A	83932301	G	A	83932301	3	1	167	1	0	0	0	0	1	0	0	0	1476	1203	42	3	1290	3	BNC1	15	83932301	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	19921517	83932301	18599091	128	42134											
UNC45A	55898	genome.wustl.edu	37	chr15	91489925	91489925	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ctcctgcagggcccatgtgaCgctggcaaccgggccttgga	6	7	14	14	2	0	1	0	1	0	0	1	2	1	2	4	4	2	3	4	4	1	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr15:91489925C>T	ENST00000418476.2	+	10	1321	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	UNC45A_ENST00000394275.2_Silent_p.D412D	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	427					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCCCATGTGACGCTGGCAACC	0.657																																																	0													56	50	52					15																	91489925		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1281C>T	15.37:g.91489925C>T			A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D427	ENST00000418476.2	37	c.1281	CCDS10367.1	15																																																																																			UNC45A	-	pfam_UNC-45/Ring3,superfamily_ARM-type_fold	ENSG00000140553		0.657	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	-	0	34	0	C	NM_018671		91489925	1	tier1	-	no_errors	ENST00000418476	ensembl	human	known	74_37	silent	43.75	18	14	SNP	0.078	T	T	91489925	C	T	91489925	2	4	167	1	0	0	0	0	0	0	0	1	17037	535	19	1		1	UNC45A	15	91489925	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	7557624	91489925	11041467	129	42135											
CRAMP1L	57585	genome.wustl.edu	37	chr16	1716165	1716165	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccttccaccccaggccacGagtcacctggccagtaagtc	8	7	9	17	1	1	0	1	0	0	0	4	1	3	0	7	2	0	1	7	2	1	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr16:1716165G>A	ENST00000397412.3	+	15	2943	c.2844G>A	c.(2842-2844)acG>acA	p.T948T	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.T945T|CRAMP1L_ENST00000262317.4_Silent_p.T326T|CRAMP1L_ENST00000293925.5_Silent_p.T948T			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	948						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						CCCAGGCCACGAGTCACCTGG	0.567																																																	0													25	29	28					16																	1716165		2014	4173	6187	SO:0001819	synonymous_variant	0			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.2844G>A	16.37:g.1716165G>A			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.T948	ENST00000397412.3	37	c.2844	CCDS10440.2	16																																																																																			CRAMP1L	-	NULL	ENSG00000007545		0.567	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	-	0	137	0	G			1716165	1	tier1	-	no_errors	ENST00000293925	ensembl	human	known	74_37	silent	15.76	139	26	SNP	0.001	A	A	1716165	G	A	1716165	2	1	167	1	0	0	0	0	0	0	0	1	3853	1045	37	1		1	CRAMP1L	16	1716165	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09		1716165	88638588	130	42136											
RPL3L	6123	genome.wustl.edu	37	chr16	1994875	1994875	+	Missense_Mutation	SNP	A	A	G	1	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	tctccggcgtttccttctccAgatgcttcttttgggggccc	2	15	10	14	2	3	1	0	0	3	1	6	1	4	1	4	3	1	2	4	3	0	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr16:1994875A>G	ENST00000268661.7	-	10	1281	c.1187T>C	c.(1186-1188)cTg>cCg	p.L396P	MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000564908.1_5'Flank|MSRB1_ENST00000361871.3_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	396					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						TTCCTTCTCCAGATGCTTCTT	0.592																																																	0													132	136	135					16																	1994875		2199	4300	6499	SO:0001583	missense	0			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.1187T>C	16.37:g.1994875A>G	ENSP00000268661:p.Leu396Pro			Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_B-barrel	p.L396P	ENST00000268661.7	37	c.1187	CCDS10450.1	16	.	.	.	.	.	.	.	.	.	.	A	12.37	1.917013	0.33815	.	.	ENSG00000140986	ENST00000268661	T	0.33865	1.39	4.49	3.38	0.38709	.	0.296762	0.27482	N	0.019165	T	0.31263	0.0791	L	0.54323	1.7	0.58432	D	0.999993	B	0.29909	0.261	B	0.21546	0.035	T	0.09640	-1.0665	10	0.52906	T	0.07	-13.0084	10.7752	0.46346	0.8408:0.1592:0.0:0.0	.	396	Q92901	RL3L_HUMAN	P	396	ENSP00000268661:L396P	ENSP00000268661:L396P	L	-	2	0	RPL3L	1934876	0.979000	0.34478	0.983000	0.44433	0.873000	0.50193	3.168000	0.50801	0.679000	0.31345	0.379000	0.24179	CTG	RPL3L	-	NULL	ENSG00000140986		0.592	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3L	HGNC	protein_coding	OTTHUMT00000250582.2	-	0	60	0	A	NM_005061		1994875	-1	tier1	-	no_errors	ENST00000268661	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.986	G	G	1994875	A	G	1994875	3	3	167	1	0	0	0	0	1	0	0	0	13639	188	7	4	40	4	RPL3L	16	1994875	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	278710	1994875	88359878	131	42137											
NAGPA	51172	genome.wustl.edu	37	chr16	5080411	5080411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctccgtttggccgtctgCatgaaagagcaccagctgcc	7	9	11	14	2	1	2	0	1	1	1	2	2	2	2	4	1	5	5	4	1	1	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr16:5080411C>T	ENST00000312251.3	-	4	785	c.766G>A	c.(766-768)Gca>Aca	p.A256T	NAGPA_ENST00000381955.3_Missense_Mutation_p.A256T|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'Flank	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	256					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	TGGCCGTCTGCATGAAAGAGC	0.592																																																	0													36	28	31					16																	5080411		2174	4245	6419	SO:0001583	missense	0			AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.766G>A	16.37:g.5080411C>T	ENSP00000310998:p.Ala256Thr		B2RAS1|Q96EJ8	Missense_Mutation	SNP	pfam_DUF2233,pfscan_EG-like_dom	p.A256T	ENST00000312251.3	37	c.766	CCDS10527.1	16	.	.	.	.	.	.	.	.	.	.	C	8.911	0.958663	0.18507	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.28895	1.59;1.81	5.09	5.09	0.68999	.	0.485772	0.22547	N	0.058641	T	0.22859	0.0552	N	0.16833	0.445	0.09310	N	1	B;P	0.35272	0.005;0.493	B;B	0.34242	0.01;0.178	T	0.13495	-1.0507	10	0.36615	T	0.2	-3.1508	18.4939	0.90856	0.0:1.0:0.0:0.0	.	256;256	Q9UK23;Q9UK23-2	NAGPA_HUMAN;.	T	256	ENSP00000310998:A256T;ENSP00000371381:A256T	ENSP00000310998:A256T	A	-	1	0	NAGPA	5020412	0.008000	0.16893	0.012000	0.15200	0.126000	0.20510	1.944000	0.40263	2.380000	0.81148	0.561000	0.74099	GCA	NAGPA	-	pfam_DUF2233	ENSG00000103174		0.592	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGPA	HGNC	protein_coding	OTTHUMT00000207003.1		0	36	0	C	NM_016256		5080411	-1			no_errors	ENST00000312251	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.034	T	T	5080411	C	T	5080411	3	4	167	1	0	0	0	0	1	0	0	0	10182	710	25	3	809	3	NAGPA	16	5080411	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	3085536	5080411	85274342	132	42138											
NSMCE1	197370	genome.wustl.edu	37	chr16	27268881	27268881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacgcccattctccttgtgCtgccctgcatgtgggaacga	6	11	11	13	2	1	1	0	1	1	0	2	3	1	2	3	1	4	2	3	1	1	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr16:27268881C>T	ENST00000361439.4	-	2	110	c.11G>A	c.(10-12)aGc>aAc	p.S4N		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	4	Interaction with NDNL2.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						TCTCCTTGTGCTGCCCTGCAT	0.512																																																	0													78	81	80					16																	27268881		2094	4219	6313	SO:0001583	missense	0			AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.11G>A	16.37:g.27268881C>T	ENSP00000355077:p.Ser4Asn		D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP	pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING	p.S4N	ENST00000361439.4	37	c.11	CCDS10628.2	16	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956887	0.18507	.	.	ENSG00000169189	ENST00000361439	D	0.82984	-1.67	4.46	2.44	0.29823	.	0.352035	0.20104	U	0.099172	T	0.66317	0.2777	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46871	-0.9160	10	0.14656	T	0.56	.	6.0702	0.19885	0.0:0.7042:0.1914:0.1044	.	4	Q8WV22	NSE1_HUMAN	N	4	ENSP00000355077:S4N	ENSP00000355077:S4N	S	-	2	0	NSMCE1	27176382	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.000000	0.12993	0.575000	0.29434	0.563000	0.77884	AGC	NSMCE1	-	NULL	ENSG00000169189		0.512	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE1	HGNC	protein_coding	OTTHUMT00000254577.3	-	0	49	0	C	NM_145080		27268881	-1	tier1	-	no_errors	ENST00000361439	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.001	T	T	27268881	C	T	27268881	3	4	167	1	0	0	0	0	1	0	0	0	10714	797	28	3	817	3	NSMCE1	16	27268881	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	22188470	27268881	63085872	133	42139											
TP53	7157	genome.wustl.edu	37	chr17	7578556	7578556	+	Splice_Site	SNP	T	T	C	0	1	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	tgttgagggcaggggagtacTgtaggaagaggaaggagaca	13	6	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:7578556T>C	ENST00000269305.4	-	5	565		c.e5-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(34)|p.0?(8)|p.V73fs*9(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)	AGGGGAGTACTGTAGGAAGAG	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"	46	Unknown(34)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(19)|breast(7)|central_nervous_system(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)											41	42	41					17																	7578556		2203	4300	6503	SO:0001630	splice_region_variant	0	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.376-2A>G	17.37:g.7578556T>C			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	-	e4-2	ENST00000269305.4	37	c.376-2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336894	0.60963	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6026	0.45375	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519281	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	6.214000	0.72200	2.078000	0.62432	0.533000	0.62120	.	TP53	-	-	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	28	0	T	NM_000546	Intron	7578556	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	55.56	4	5	SNP	1.000	C	C	7578556	T	C	7578556	5	2	167	1	0	0	0	0	0	0	1	0	16429	1594	55	4	924	4	TP53	17	7578556	Splice_Site	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09		7578556	73616654	134	42140											
GLP2R	9340	genome.wustl.edu	37	chr17	9745813	9745813	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctttgtttactttcagaGagctcaggaagggcctacag	10	11	12	8	0	2	1	2	0	0	1	2	4	2	2	1	2	4	3	1	2	3	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:9745813G>T	ENST00000262441.5	+	4	897	c.384G>T	c.(382-384)gaG>gaT	p.E128D	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	128					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)	p.E128D(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TACTTTCAGAGAGCTCAGGAA	0.532																																																	1	Substitution - Missense(1)	lung(1)											94	79	84					17																	9745813		2203	4300	6503	SO:0001630	splice_region_variant	0			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.383-1G>T	17.37:g.9745813G>T			Q4VAT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E128D	ENST00000262441.5	37	c.384	CCDS11150.1	17	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479585	0.26511	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.49720	0.77	4.93	2.82	0.32997	GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.38663	N	0.001617	T	0.22975	0.0555	N	0.13371	0.34	0.26582	N	0.973356	B	0.20261	0.043	B	0.26094	0.066	T	0.15521	-1.0434	10	0.09338	T	0.73	.	3.4622	0.07537	0.2687:0.209:0.5223:0.0	.	128	O95838	GLP2R_HUMAN	D	128;103;128	ENSP00000262441:E128D	ENSP00000262441:E128D	E	+	3	2	GLP2R	9686538	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.277000	0.43417	1.320000	0.45209	0.561000	0.74099	GAG	GLP2R	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000065325		0.532	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	HGNC	protein_coding	OTTHUMT00000252601.4		0	53	0	G		Missense_Mutation	9745813	1			no_errors	ENST00000262441	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	9745813	G	T	9745813	5	4	167	1	0	0	0	0	0	0	1	0	6479	956	33	3	398	3	GLP2R	17	9745813	Splice_Site	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	2167257	9745813	71449397	135	42141											
SUPT6H	6830	genome.wustl.edu	37	chr17	27014397	27014397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaatgaggtcggggtcGatgtcaaccgtgccattgcc	8	9	14	10	3	2	1	2	1	0	0	4	3	2	1	3	3	3	0	3	3	2	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:27014397G>T	ENST00000314616.6	+	23	3197	c.2914G>T	c.(2914-2916)Gat>Tat	p.D972Y	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D972Y	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	972	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)					GGTCGGGGTCGATGTCAACCG	0.542																																																	0													105	86	92					17																	27014397		2203	4300	6503	SO:0001583	missense	0			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.2914G>T	17.37:g.27014397G>T	ENSP00000319104:p.Asp972Tyr		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.D972Y	ENST00000314616.6	37	c.2914	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851118	0.91277	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.59	5.59	0.84812	Tex-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89581	0.6756	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92193	0.5761	9	0.87932	D	0	-21.7999	19.5983	0.95549	0.0:0.0:1.0:0.0	.	972	Q7KZ85	SPT6H_HUMAN	Y	972	.	ENSP00000319104:D972Y	D	+	1	0	SUPT6H	24038524	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	9.216000	0.95154	2.649000	0.89929	0.557000	0.71058	GAT	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.542	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2		0	51	0	G	NM_003170		27014397	1			no_errors	ENST00000314616	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	27014397	G	T	27014397	3	4	167	1	0	0	0	0	1	0	0	0	15447	1058	37	2	3000	2	SUPT6H	17	27014397	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	17268584	27014397	54180813	136	42142											
KRT33B	3884	genome.wustl.edu	37	chr17	39521427	39521427	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtctgaacaatacacacCaggttgtgctgggcctgcag	10	8	12	11	0	1	1	0	1	1	0	1	1	1	1	2	3	4	3	2	3	3	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:39521427C>A	ENST00000251646.3	-	5	925	c.876G>T	c.(874-876)ctG>ctT	p.L292L		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	292	Coil 2.|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)				CAATACACACCAGGTTGTGCT	0.577																																																	0													61	57	58					17																	39521427		2190	4296	6486	SO:0001630	splice_region_variant	0			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.876+1G>T	17.37:g.39521427C>A			O76010	Silent	SNP	pfam_IF,prints_Keratin_I	p.L292	ENST00000251646.3	37	c.876	CCDS11389.1	17																																																																																			KRT33B	-	pfam_IF,prints_Keratin_I	ENSG00000131738		0.577	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33B	HGNC	protein_coding	OTTHUMT00000257292.1	-	0	102	0	C	NM_002279	Silent	39521427	-1	tier1	-	no_errors	ENST00000251646	ensembl	human	known	74_37	silent	32.69	70	34	SNP	1.000	A	A	39521427	C	A	39521427	5	1	167	1	0	0	0	0	0	0	1	0	8497	608	21	3	350	3	KRT33B	17	39521427	Splice_Site	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	12507030	39521427	41673783	137	42143											
LRRC37A2	474170	genome.wustl.edu	37	chr17	44632542	44632542	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attttcagatttctgccatgGaggggatgctcttcgcgaag	8	13	12	8	2	3	1	1	0	2	1	4	4	3	3	1	3	2	1	1	3	1	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:44632542G>A	ENST00000576629.1	+	13	5379	c.4884G>A	c.(4882-4884)tgG>tgA	p.W1628*	LRRC37A2_ENST00000333412.3_Nonsense_Mutation_p.W1628*|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000336125.5_3'UTR|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1628				W -> R (in Ref. 2; AAI44428). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TTCTGCCATGGAGGGGATGCT	0.483																																																	0													6	10	9					17																	44632542		1769	3924	5693	SO:0001587	stop_gained	0			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4884G>A	17.37:g.44632542G>A	ENSP00000459551:p.Trp1628*		B7ZMC3	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.W1628*	ENST00000576629.1	37	c.4884	CCDS42353.1	17	.	.	.	.	.	.	.	.	.	.	g	42	9.784136	0.99263	.	.	ENSG00000238083	ENST00000333412	.	.	.	2.28	-2.06	0.07298	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.1266	0.10129	0.0:0.2803:0.4068:0.3128	.	.	.	.	X	1628	.	ENSP00000333071:W1628X	W	+	3	0	LRRC37A2	41987858	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.150000	0.01290	-1.019000	0.03358	-1.903000	0.00527	TGG	LRRC37A2	-	NULL	ENSG00000238083		0.483	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	-	0	30	0	G	NM_001006607		44632542	1	tier1	-	no_errors	ENST00000333412	ensembl	human	known	74_37	nonsense	31.82	15	7	SNP	0.000	A	A	44632542	G	A	44632542	4	1	167	1	0	0	0	0	0	1	0	0	9027	1183	41	3	4930	3	LRRC37A2	17	44632542	Nonsense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	5111115	44632542	36562668	138	42144											
MRPL10	124995	genome.wustl.edu	37	chr17	45904115	45904115	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaaggggcagcagattttgGtacttggaatcctccaggaa	13	9	12	7	0	0	1	0	0	0	1	2	3	2	3	2	5	2	3	2	5	5	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:45904115G>T	ENST00000351111.2	-	4	425	c.420C>A	c.(418-420)taC>taA	p.Y140*	MRPL10_ENST00000290208.7_Nonsense_Mutation_p.Y150*|MRPL10_ENST00000414011.1_Nonsense_Mutation_p.Y150*	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	140					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCAGATTTTGGTACTTGGAAT	0.537																																																	0													64	58	60					17																	45904115		2203	4300	6503	SO:0001587	stop_gained	0			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"Mitochondrial ribosomal proteins / large subunits"	14055	protein-coding gene	gene with protein product	"39S ribosomal protein L10, mitochondrial"	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.420C>A	17.37:g.45904115G>T	ENSP00000324100:p.Tyr140*		A6NGJ4|Q96B80|Q96Q55	Nonsense_Mutation	SNP	pfam_Ribosomal_L10/acidic_P0	p.Y140*	ENST00000351111.2	37	c.420	CCDS11516.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.880437	0.97904	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	.	.	.	5.62	3.62	0.41486	.	0.235145	0.45361	D	0.000363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3539	10.0992	0.42493	0.1618:0.0:0.8382:0.0	.	.	.	.	X	140;150;150	.	ENSP00000290208:Y150X	Y	-	3	2	MRPL10	43259114	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	3.918000	0.56432	1.388000	0.46506	-0.258000	0.10820	TAC	MRPL10	-	pfam_Ribosomal_L10/acidic_P0	ENSG00000159111		0.537	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL10	HGNC	protein_coding	OTTHUMT00000343764.1		0	76	0	G	NM_145255		45904115	-1			no_errors	ENST00000351111	ensembl	human	known	74_37	nonsense	7.84	47	4	SNP	0.995	T	T	45904115	G	T	45904115	4	4	167	1	0	0	0	0	0	1	0	0	9813	1256	44	3	373	3	MRPL10	17	45904115	Nonsense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	1271573	45904115	35291095	139	42145											
PNPO	55163	genome.wustl.edu	37	chr17	46019112	46019112	+	Missense_Mutation	SNP	A	A	G	1	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	gtggccaggctacctcagtcAcctgtgtggtcgcagtgctg	5	10	14	12	1	2	0	2	0	0	0	3	0	2	0	3	3	2	3	3	3	1	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:46019112A>G	ENST00000225573.4	+	1	176	c.71A>G	c.(70-72)cAc>cGc	p.H24R	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|PNPO_ENST00000544840.1_Missense_Mutation_p.H24R|AC003665.1_ENST00000411573.2_RNA|PNPO_ENST00000534893.1_5'UTR|PNPO_ENST00000434554.2_Missense_Mutation_p.H24R	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	24					pyridoxine biosynthetic process (GO:0008615)|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)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						TACCTCAGTCACCTGTGTGGT	0.716																																																	0													18	16	17					17																	46019112		2169	4248	6417	SO:0001583	missense	0			AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"pyridoxine 5'-phosphate oxidase"			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.71A>G	17.37:g.46019112A>G	ENSP00000225573:p.His24Arg		B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase	p.H24R	ENST00000225573.4	37	c.71	CCDS11522.1	17	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687508	0.29962	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840	T;T;T	0.72942	-0.68;-0.69;-0.7	5.22	0.373	0.16178	.	0.784451	0.11960	N	0.512849	T	0.51890	0.1701	N	0.25647	0.755	0.43126	D	0.994856	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30149	-0.9988	10	0.17832	T	0.49	-7.5547	8.0638	0.30648	0.6712:0.0:0.3288:0.0	.	24;24;24	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	R	24	ENSP00000225573:H24R;ENSP00000399960:H24R;ENSP00000446182:H24R	ENSP00000225573:H24R	H	+	2	0	PNPO	43374111	0.009000	0.17119	0.120000	0.21714	0.186000	0.23388	-0.064000	0.11636	0.106000	0.17784	-0.376000	0.06991	CAC	PNPO	-	NULL	ENSG00000108439		0.716	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPO	HGNC	protein_coding	OTTHUMT00000441407.1	-	0	22	0	A	NM_018129		46019112	1	tier1	-	no_errors	ENST00000225573	ensembl	human	known	74_37	missense	56.25	14	18	SNP	0.010	G	G	46019112	A	G	46019112	3	3	167	1	0	0	0	0	1	0	0	0	12211	159	6	4	73	4	PNPO	17	46019112	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	114997	46019112	35176098	140	42146											
BRIP1	83990	genome.wustl.edu	37	chr17	59885975	59885975	+	Silent	SNP	A	A	G	1	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	cggagctctctagtaatctgAgcaatctgcttgtgtgtgcg	7	13	12	9	2	3	1	0	1	3	0	4	2	3	2	0	1	4	4	0	1	3	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:59885975A>G	ENST00000259008.2	-	7	1038	c.771T>C	c.(769-771)gcT>gcC	p.A257A	BRIP1_ENST00000577598.1_Silent_p.A257A	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	257	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TAGTAATCTGAGCAATCTGCT	0.443			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0													135	120	125					17																	59885975		2203	4300	6503	SO:0001819	synonymous_variant	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.771T>C	17.37:g.59885975A>G			Q3MJE2|Q8NCI5	Silent	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A257	ENST00000259008.2	37	c.771	CCDS11631.1	17																																																																																			BRIP1	-	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000136492		0.443	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	-	0	42	0	A	NM_032043		59885975	-1	tier1	-	no_errors	ENST00000259008	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	G	G	59885975	A	G	59885975	2	3	167	1	0	0	0	0	0	0	0	1	1518	291	11	4		4	BRIP1	17	59885975	Silent	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	13866863	59885975	21309235	141	42147											
ACE	1636	genome.wustl.edu	37	chr17	61564065	61564065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggcagcactgcctgcccagGagctggaggaggtgtgtggc	6	6	19	10	0	0	0	0	0	0	0	0	3	0	3	2	6	4	3	2	6	0	0			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:61564065G>A	ENST00000290866.4	+	14	2230	c.2206G>A	c.(2206-2208)Gag>Aag	p.E736K	ACE_ENST00000428043.1_Missense_Mutation_p.E736K|ACE_ENST00000577647.1_Missense_Mutation_p.E162K|ACE_ENST00000290863.6_Missense_Mutation_p.E162K|ACE_ENST00000421982.2_Missense_Mutation_p.E46K|ACE_ENST00000490216.2_Missense_Mutation_p.E162K|ACE_ENST00000413513.3_Missense_Mutation_p.E162K	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	736	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)	GCCTGCCCAGGAGCTGGAGGA	0.582																																																	0													70	64	66					17																	61564065		2203	4300	6503	SO:0001583	missense	0			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.2206G>A	17.37:g.61564065G>A	ENSP00000290866:p.Glu736Lys		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.E736K	ENST00000290866.4	37	c.2206	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591132	0.28357	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.52	5.03	5.03	0.67393	.	0.143335	0.64402	D	0.000009	T	0.20577	0.0495	L	0.28115	0.83	0.46701	D	0.999168	B;B;B;P	0.40534	0.203;0.041;0.005;0.72	B;B;B;B	0.39805	0.061;0.124;0.025;0.31	T	0.02860	-1.1101	10	0.02654	T	1	-32.7914	15.3904	0.74739	0.0:0.0:1.0:0.0	.	46;162;162;736	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	K	736;736;162;162;46	ENSP00000290866:E736K;ENSP00000397593:E736K;ENSP00000290863:E162K;ENSP00000392247:E162K;ENSP00000387760:E46K	ENSP00000290863:E162K	E	+	1	0	ACE	58917797	1.000000	0.71417	0.968000	0.41197	0.353000	0.29299	4.435000	0.59941	2.622000	0.88805	0.561000	0.74099	GAG	ACE	-	pfam_Peptidase_M2	ENSG00000159640		0.582	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	-	0	37	0	G			61564065	1	tier1	-	no_errors	ENST00000290866	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.963	A	A	61564065	G	A	61564065	3	1	167	1	0	0	0	0	1	0	0	0	136	1175	41	3	2463	3	ACE	17	61564065	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	1678090	61564065	19631145	142	42148											
PRKCA	5578	genome.wustl.edu	37	chr17	64800090	64800090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctaacatagaccagtctGattttgaagggttctcgtat	10	15	9	7	1	2	3	0	2	2	1	3	3	2	3	1	1	2	3	1	1	4	7			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:64800090G>T	ENST00000413366.3	+	17	1980	c.1954G>T	c.(1954-1956)Gat>Tat	p.D652Y		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	652	AGC-kinase C-terminal.				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)	AGACCAGTCTGATTTTGAAGG	0.498																																																	0													157	131	140					17																	64800090		2203	4300	6503	SO:0001583	missense	0				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.1954G>T	17.37:g.64800090G>T	ENSP00000408695:p.Asp652Tyr		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.D652Y	ENST00000413366.3	37	c.1954	CCDS11664.1	17	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305960	0.81247	.	.	ENSG00000154229	ENST00000413366	T	0.59083	0.29	5.57	5.57	0.84162	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.064020	0.64402	D	0.000009	T	0.70833	0.3269	L	0.45422	1.42	0.80722	D	1	D	0.62365	0.991	D	0.69654	0.965	T	0.72620	-0.4238	10	0.87932	D	0	.	19.5529	0.95328	0.0:0.0:1.0:0.0	.	652	P17252	KPCA_HUMAN	Y	652	ENSP00000408695:D652Y	ENSP00000408695:D652Y	D	+	1	0	PRKCA	62230552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.621000	0.88768	0.655000	0.94253	GAT	PRKCA	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g	ENSG00000154229		0.498	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCA	HGNC	protein_coding	OTTHUMT00000446976.1	-	0	102	0	G			64800090	1	tier1	-	no_errors	ENST00000413366	ensembl	human	known	74_37	missense	7.41	74	6	SNP	1.000	T	T	64800090	G	T	64800090	3	4	167	1	0	0	0	0	1	0	0	0	12549	1290	45	3	2020	3	PRKCA	17	64800090	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	3236025	64800090	16395120	143	42149											
WIPI1	55062	genome.wustl.edu	37	chr17	66422248	66422248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	attctcatcatcaagacacaCtggtcccgtcgcaaactcat	12	10	5	14	2	4	1	4	0	1	1	7	1	5	1	1	1	1	1	1	1	2	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr17:66422248C>T	ENST00000262139.5	-	12	1260	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.V339M|MIR635_ENST00000384830.1_RNA|RP11-120M18.2_ENST00000592030.1_RNA	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	421					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						TCAAGACACACTGGTCCCGTC	0.502																																																	0													121	94	103					17																	66422248		2203	4300	6503	SO:0001583	missense	0				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.1261G>A	17.37:g.66422248C>T	ENSP00000262139:p.Val421Met		Q8IXM5|Q9NWF8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.V421M	ENST00000262139.5	37	c.1261	CCDS11677.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394605	0.83011	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.58358	0.75;0.34	5.79	5.79	0.91817	.	0.250252	0.39544	N	0.001339	T	0.56949	0.2020	L	0.50333	1.59	0.53005	D	0.999961	P	0.48640	0.913	P	0.50231	0.635	T	0.57341	-0.7828	10	0.52906	T	0.07	-22.6531	13.2601	0.60101	0.0:0.9279:0.0:0.0721	.	421	Q5MNZ9	WIPI1_HUMAN	M	421;339	ENSP00000262139:V421M;ENSP00000437345:V339M	ENSP00000262139:V421M	V	-	1	0	WIPI1	63933843	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.944000	0.56629	2.733000	0.93635	0.655000	0.94253	GTG	WIPI1	-	NULL	ENSG00000070540		0.502	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPI1	HGNC	protein_coding	OTTHUMT00000448739.1	-	0	50	0	C	NM_017983		66422248	-1	tier1	-	no_errors	ENST00000262139	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	66422248	C	T	66422248	3	4	167	1	0	0	0	0	1	0	0	0	17419	565	20	3	87	3	WIPI1	17	66422248	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	1622158	66422248	14772962	144	42150											
FAM38B	63895	genome.wustl.edu	37	chr18	10760966	10760966	+	Silent	SNP	T	T	C	0	1	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	tatttggcacaattaataagTccatcatctagatgtagtct	13	15	6	7	0	3	1	1	0	2	1	4	1	4	1	1	1	0	2	1	1	6	6			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr18:10760966T>C	ENST00000503781.3	-	22	3317	c.3318A>G	c.(3316-3318)ggA>ggG	p.G1106G	PIEZO2_ENST00000383408.2_Silent_p.G394G|PIEZO2_ENST00000302079.6_Silent_p.G1106G|PIEZO2_ENST00000580640.1_Silent_p.G1131G	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1106					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)										AATTAATAAGTCCATCATCTA	0.363																																																	0													71	60	63					18																	10760966		692	1591	2283	SO:0001819	synonymous_variant	0			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.3318A>G	18.37:g.10760966T>C			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	NULL	p.G1120	ENST00000503781.3	37	c.3360		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.363	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0	139	0	T	NM_022068		10760966	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	silent	10.28	96	11	SNP	0.980	C	C	10760966	T	C	10760966	2	2	167	1	0	0	0	0	0	0	0	1	5577	1654	58	4		4	FAM38B	18	10760966	Silent	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09		10760966	67316282	145	42151											
PTPN2	5771	genome.wustl.edu	37	chr18	12802116	12802116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaatgatcaaaggcaggaGataagtcttccttagaaagt	15	10	11	5	0	2	4	1	2	1	2	3	5	3	4	1	2	0	1	1	2	5	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr18:12802116G>C	ENST00000309660.5	-	8	986	c.893C>G	c.(892-894)tCt>tGt	p.S298C	PTPN2_ENST00000591497.1_Missense_Mutation_p.S269C|PTPN2_ENST00000353319.4_Missense_Mutation_p.S298C|PTPN2_ENST00000327283.3_Missense_Mutation_p.S298C|PTPN2_ENST00000591115.1_Missense_Mutation_p.S321C	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	298					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AAAGGCAGGAGATAAGTCTTC	0.318																																																	0													95	82	87					18																	12802116		2203	4300	6503	SO:0001583	missense	0			M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.893C>G	18.37:g.12802116G>C	ENSP00000311857:p.Ser298Cys		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S298C	ENST00000309660.5	37	c.893	CCDS11865.1	18	.	.	.	.	.	.	.	.	.	.	G	9.858	1.195389	0.22037	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	T;T;T	0.04156	3.69;3.71;3.69	5.52	1.58	0.23477	.	0.539313	0.16636	N	0.205840	T	0.02342	0.0072	N	0.08118	0	0.09310	N	0.999992	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;0.0;0.0	T	0.44498	-0.9324	10	0.37606	T	0.19	.	4.6839	0.12748	0.0837:0.3344:0.4538:0.1281	.	298;298;275;298;298	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	C	298;298;275;298	ENSP00000320298:S298C;ENSP00000320546:S298C;ENSP00000311857:S298C	ENSP00000311857:S298C	S	-	2	0	PTPN2	12792116	0.995000	0.38212	0.650000	0.29550	0.988000	0.76386	1.748000	0.38308	0.066000	0.16515	0.557000	0.71058	TCT	PTPN2	-	pirsf_Ptpn1/Ptpn2	ENSG00000175354		0.318	PTPN2-002	KNOWN	basic|CCDS	protein_coding	PTPN2	HGNC	protein_coding	OTTHUMT00000254613.3	-	0	60	0	G	NM_002828, NM_080422, NM_080423		12802116	-1	tier1	-	no_errors	ENST00000309660	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.430	C	C	12802116	G	C	12802116	3	2	167	1	0	0	0	0	1	0	0	0	12828	942	33	5	388	5	PTPN2	18	12802116	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	2041150	12802116	65275132	146	42152											
ATP8B1	5205	genome.wustl.edu	37	chr18	55371857	55371857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcaaacagattcattggtAtaaaggtaaatgcgttgtac	14	12	9	6	1	2	1	2	0	0	1	2	1	2	1	0	2	3	5	0	2	7	7			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr18:55371857A>G	ENST00000283684.4	-	3	322	c.323T>C	c.(322-324)aTa>aCa	p.I108T	ATP8B1_ENST00000536015.1_Missense_Mutation_p.I108T|ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	108					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ATTCATTGGTATAAAGGTAAA	0.313																																																	0													149	154	152					18																	55371857		2202	4300	6502	SO:0001583	missense	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.323T>C	18.37:g.55371857A>G	ENSP00000283684:p.Ile108Thr		Q9BTP8	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.I108T	ENST00000283684.4	37	c.323	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328329	0.60743	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.46451	0.87;0.87	6.04	6.04	0.98038	.	0.247223	0.34435	N	0.003975	T	0.48768	0.1518	M	0.78456	2.415	0.41589	D	0.988782	B	0.06786	0.001	B	0.08055	0.003	T	0.48811	-0.9002	10	0.87932	D	0	.	16.2371	0.82381	1.0:0.0:0.0:0.0	.	108	O43520	AT8B1_HUMAN	T	108	ENSP00000283684:I108T;ENSP00000445359:I108T	ENSP00000283684:I108T	I	-	2	0	ATP8B1	53522855	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.289000	0.96061	2.317000	0.78254	0.523000	0.50628	ATA	ATP8B1	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000081923		0.313	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	-	0	73	0	A	NM_005603		55371857	-1	tier1	-	no_errors	ENST00000283684	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	G	G	55371857	A	G	55371857	3	3	167	1	0	0	0	0	1	0	0	0	1195	449	16	4	3532	4	ATP8B1	18	55371857	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	42569741	55371857	22705391	147	42153											
EFNA2	1943	genome.wustl.edu	37	chr19	1299899	1299899	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcccgggcggctgccgcctCttcctcagcaccatccccgt	4	7	10	20	4	2	0	1	0	1	0	4	0	4	0	7	2	3	2	7	2	0	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:1299899C>T	ENST00000215368.2	+	4	612	c.597C>T	c.(595-597)ctC>ctT	p.L199L	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	199					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)		GCTGCCGCCTCTTCCTCAGCA	0.682																																																	0													31	29	30					19																	1299899		2201	4298	6499	SO:0001819	synonymous_variant	0				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.597C>T	19.37:g.1299899C>T			O76020	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.L199	ENST00000215368.2	37	c.597	CCDS12061.1	19																																																																																			EFNA2	-	NULL	ENSG00000099617		0.682	EFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA2	HGNC	protein_coding	OTTHUMT00000450016.1		0	30	0	C	NM_001405		1299899	1			no_errors	ENST00000215368	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.982	T	T	1299899	C	T	1299899	2	4	167	1	0	0	0	0	0	0	0	1	4965	900	32	3		3	EFNA2	19	1299899	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09		1299899	57829084	148	42154											
TBXA2R	6915	genome.wustl.edu	37	chr19	3595700	3595700	+	Missense_Mutation	SNP	A	A	G	1	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	cacttcctactgcagcccggAgcgctgcgtgagctggggct	5	8	14	14	3	0	1	0	1	0	0	1	2	1	2	2	3	6	4	2	3	1	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:3595700A>G	ENST00000375190.4	-	3	1411	c.1018T>C	c.(1018-1020)Tcc>Ccc	p.S340P	TBXA2R_ENST00000411851.3_Intron|TBXA2R_ENST00000589966.1_Missense_Mutation_p.L210P|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	340					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)	TGCAGCCCGGAGCGCTGCGTG	0.697																																																	0													11	15	13					19																	3595700		2074	4177	6251	SO:0001583	missense	0				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.1018T>C	19.37:g.3595700A>G	ENSP00000364336:p.Ser340Pro		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.S340P	ENST00000375190.4	37	c.1018	CCDS42467.1	19	.	.	.	.	.	.	.	.	.	.	A	11.87	1.767162	0.31320	.	.	ENSG00000006638	ENST00000375190	T	0.43688	0.94	4.62	-8.59	0.00893	.	.	.	.	.	T	0.20373	0.0490	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19745	-1.0296	8	.	.	.	.	6.5539	0.22450	0.4604:0.3159:0.2238:0.0	.	340	P21731	TA2R_HUMAN	P	340	ENSP00000364336:S340P	.	S	-	1	0	TBXA2R	3546700	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.352000	0.07701	-1.151000	0.02836	0.459000	0.35465	TCC	TBXA2R	-	NULL	ENSG00000006638		0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBXA2R	HGNC	protein_coding	OTTHUMT00000453081.2	-	0	50	0	A			3595700	-1	tier1	-	no_errors	ENST00000375190	ensembl	human	known	74_37	missense	47.54	31	29	SNP	0.000	G	G	3595700	A	G	3595700	3	3	167	1	0	0	0	0	1	0	0	0	15710	304	11	4	262	4	TBXA2R	19	3595700	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	2295801	3595700	55533283	149	42155											
CLEC4M	10332	genome.wustl.edu	37	chr19	7830789	7830789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcaggagatctaccaGgagctgacccggctgaaggc	11	5	14	11	1	1	3	0	2	1	1	1	5	1	4	2	4	4	4	2	4	3	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:7830789G>T	ENST00000327325.5	+	4	598	c.480G>T	c.(478-480)caG>caT	p.Q160H	CLEC4M_ENST00000248228.4_Missense_Mutation_p.Q138H|CLEC4M_ENST00000394122.2_Missense_Mutation_p.Q148H|CLEC4M_ENST00000597522.1_Missense_Mutation_p.Q160H|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596363.1_Missense_Mutation_p.Q132H|CLEC4M_ENST00000334806.5_Missense_Mutation_p.Q109H|CLEC4M_ENST00000359059.5_Missense_Mutation_p.Q116H|CLEC4M_ENST00000357361.2_Missense_Mutation_p.Q160H|CLEC4M_ENST00000596707.1_Missense_Mutation_p.Q139H	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	160	7 X approximate tandem repeats.				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						AGATCTACCAGGAGCTGACCC	0.582																																																	0													1	1	1					19																	7830789		587	1093	1680	SO:0001583	missense	0			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.480G>T	19.37:g.7830789G>T	ENSP00000316228:p.Gln160His		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.Q160H	ENST00000327325.5	37	c.480	CCDS12187.1	19	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432466	0.25813	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.23754	1.93;1.89;1.89;1.93;1.97;1.93	1.19	0.0655	0.14357	.	.	.	.	.	T	0.43277	0.1240	M	0.76574	2.34	0.09310	N	1	P;D;D;D;D;P;D;B;D	0.76494	0.88;0.995;0.999;0.995;0.991;0.914;0.973;0.357;0.997	P;D;D;D;D;P;P;B;D	0.87578	0.775;0.989;0.998;0.951;0.991;0.763;0.881;0.437;0.963	T	0.20438	-1.0275	9	0.62326	D	0.03	.	3.5725	0.07922	0.2755:0.0:0.7245:0.0	.	109;139;132;160;148;137;132;160;104	B4E2Z5;Q9H2X3-5;B4DNV9;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-4;Q9H2X3-10	.;.;.;CLC4M_HUMAN;.;.;.;.;.	H	160;148;138;109;116;160;104	ENSP00000316228:Q160H;ENSP00000377680:Q148H;ENSP00000248228:Q138H;ENSP00000335228:Q109H;ENSP00000351954:Q116H;ENSP00000349924:Q160H	ENSP00000248228:Q138H	Q	+	3	2	CLEC4M	7736789	0.029000	0.19370	0.004000	0.12327	0.074000	0.17049	0.143000	0.16115	0.073000	0.16731	0.430000	0.28490	CAG	CLEC4M	-	NULL	ENSG00000104938		0.582	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4M	HGNC	protein_coding	OTTHUMT00000461161.1		0	69	0	G	NM_014257		7830789	1			no_errors	ENST00000327325	ensembl	human	known	74_37	missense	13.85	56	9	SNP	0.005	T	T	7830789	G	T	7830789	3	4	167	1	0	0	0	0	1	0	0	0	3525	991	35	3	515	3	CLEC4M	19	7830789	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	4235089	7830789	51298194	150	42156											
CLEC4M	10332	genome.wustl.edu	37	chr19	7830858	7830858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcaggagatctaccaGgagctgacccggctgaaggc	11	5	14	11	1	1	3	0	2	1	1	1	5	1	4	2	4	4	4	2	4	3	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:7830858G>T	ENST00000327325.5	+	4	667	c.549G>T	c.(547-549)caG>caT	p.Q183H	CLEC4M_ENST00000248228.4_Missense_Mutation_p.Q161H|CLEC4M_ENST00000394122.2_Missense_Mutation_p.Q171H|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596363.1_Missense_Mutation_p.Q155H|CLEC4M_ENST00000334806.5_Missense_Mutation_p.Q132H|CLEC4M_ENST00000359059.5_Missense_Mutation_p.Q139H|CLEC4M_ENST00000357361.2_Missense_Mutation_p.Q183H|CLEC4M_ENST00000596707.1_Missense_Mutation_p.Q162H	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	183	7 X approximate tandem repeats.				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						AGATCTACCAGGAGCTGACCC	0.577																																																	0													6	7	6					19																	7830858		1923	3911	5834	SO:0001583	missense	0			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.549G>T	19.37:g.7830858G>T	ENSP00000316228:p.Gln183His		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.Q183H	ENST00000327325.5	37	c.549	CCDS12187.1	19	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501775	0.26949	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.22945	1.97;1.93;1.93;1.97;4.12;1.97	1.1	-0.0706	0.13747	.	.	.	.	.	T	0.43211	0.1237	M	0.74881	2.28	0.09310	N	1	D;D;D;D;D;P;D;D	0.69078	0.995;0.967;0.997;0.969;0.997;0.914;0.994;0.997	D;D;D;B;D;P;D;D	0.87578	0.987;0.941;0.998;0.432;0.989;0.763;0.93;0.963	T	0.21211	-1.0252	9	0.66056	D	0.02	.	3.5138	0.07717	0.2906:0.0:0.7094:0.0	.	132;162;155;183;171;160;155;127	B4E2Z5;Q9H2X3-5;B4DNV9;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-10	.;.;.;CLC4M_HUMAN;.;.;.;.	H	183;171;161;132;139;183;127	ENSP00000316228:Q183H;ENSP00000377680:Q171H;ENSP00000248228:Q161H;ENSP00000335228:Q132H;ENSP00000351954:Q139H;ENSP00000349924:Q183H	ENSP00000248228:Q161H	Q	+	3	2	CLEC4M	7736858	0.017000	0.18338	0.005000	0.12908	0.096000	0.18686	0.170000	0.16663	0.030000	0.15379	0.430000	0.28490	CAG	CLEC4M	-	NULL	ENSG00000104938		0.577	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4M	HGNC	protein_coding	OTTHUMT00000461161.1	-	0	103	0	G	NM_014257		7830858	1	tier1	-	no_errors	ENST00000327325	ensembl	human	known	74_37	missense	31.18	64	29	SNP	0.008	T	T	7830858	G	T	7830858	3	4	167	1	0	0	0	0	1	0	0	0	3525	991	35	3	584	3	CLEC4M	19	7830858	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	69	7830858	51298125	151	42157											
OR2Z1	284383	genome.wustl.edu	37	chr19	8841798	8841798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtatcctgtacttatGagacgccaggtatgtctgct	8	13	10	10	1	1	1	0	1	1	1	2	2	2	1	2	1	3	5	2	1	4	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:8841798G>T	ENST00000324060.2	+	1	483	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTACTTATGAGACGCCAGG	0.552																																																	0													151	120	130					19																	8841798		2203	4300	6503	SO:0001583	missense	0			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.408G>T	19.37:g.8841798G>T	ENSP00000316284:p.Met136Ile		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M136I	ENST00000324060.2	37	c.408	CCDS32895.1	19	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859854	0.51482	.	.	ENSG00000181733	ENST00000324060	T	0.00551	6.65	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.02119	0.0066	M	0.87381	2.88	0.32558	N	0.531426	D	0.61080	0.989	P	0.58721	0.844	T	0.09796	-1.0658	10	0.59425	D	0.04	.	14.8864	0.70572	0.0:0.0:1.0:0.0	.	136	Q8NG97	OR2Z1_HUMAN	I	136	ENSP00000316284:M136I	ENSP00000316284:M136I	M	+	3	0	OR2Z1	8702798	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	4.462000	0.60121	2.182000	0.69389	0.543000	0.68304	ATG	OR2Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181733		0.552	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	HGNC	protein_coding	OTTHUMT00000459954.1		0	33	0	G			8841798	1			no_errors	ENST00000324060	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	8841798	G	T	8841798	3	4	167	1	0	0	0	0	1	0	0	0	11075	1290	45	3	410	3	OR2Z1	19	8841798	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	1010940	8841798	50287185	152	42158											
ZNF627	199692	genome.wustl.edu	37	chr19	11728170	11728170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctacgaatgtaaacagtgCggtaaagcctttaggtgcgc	11	9	11	10	3	0	0	0	0	0	0	0	1	0	0	2	2	5	2	2	2	7	5	rs140038234		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:11728170C>T	ENST00000361113.5	+	4	1060	c.852C>T	c.(850-852)tgC>tgT	p.C284C	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GTAAACAGTGCGGTAAAGCCT	0.458													C|||	1	0.000199681	0	0	5008	,	,		22884	0		0.001	False		,,,				2504	0				Melanoma(112;173 1614 10731 17751 23322)												0													50	54	53					19																	11728170		2199	4299	6498	SO:0001819	synonymous_variant	0			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.852C>T	19.37:g.11728170C>T			O14846|Q4KMP9|Q6NT81|Q9BRG4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C284	ENST00000361113.5	37	c.852	CCDS42502.1	19																																																																																			ZNF627	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198551		0.458	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF627	HGNC	protein_coding	OTTHUMT00000458875.1		0	63	0	C	NM_145295		11728170	1			no_errors	ENST00000361113	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.988	T	T	11728170	C	T	11728170	2	4	167	1	0	0	0	0	0	0	0	1	18099	776	27	1		1	ZNF627	19	11728170	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	2886372	11728170	47400813	153	42159											
ZNF440	126070	genome.wustl.edu	37	chr19	11943541	11943541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagagaagccctataaatgCgagcaatgtgggaaagcctt	14	7	13	7	1	0	1	0	0	0	1	0	5	0	3	2	2	4	1	2	2	6	3	rs201343885		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:11943541C>T	ENST00000304060.5	+	4	1714	c.1550C>T	c.(1549-1551)gCg>gTg	p.A517V		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	517					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						CCTATAAATGCGAGCAATGTG	0.443																																																	0								C	VAL/ALA	1,4367	2.1+/-5.4	0,1,2183	62	67	65		1550	-1.2	0	19		65	0,8574		0,0,4287	no	missense	ZNF440	NM_152357.2	64	0,1,6470	TT,TC,CC		0.0,0.0229,0.0077	possibly-damaging	517/596	11943541	1,12941	2184	4287	6471	SO:0001583	missense	0			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.1550C>T	19.37:g.11943541C>T	ENSP00000305373:p.Ala517Val		Q8N1R9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A517V	ENST00000304060.5	37	c.1550	CCDS42503.1	19	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.055209	0.00390	2.29E-4	0.0	ENSG00000171295	ENST00000304060	T	0.04551	3.6	1.22	-1.24	0.09435	.	.	.	.	.	T	0.01254	0.0041	N	0.00179	-1.91	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46857	-0.9161	9	0.72032	D	0.01	.	6.4373	0.21831	0.0:0.325:0.0:0.675	.	517	Q8IYI8	ZN440_HUMAN	V	517	ENSP00000305373:A517V	ENSP00000305373:A517V	A	+	2	0	ZNF440	11804541	0.011000	0.17503	0.006000	0.13384	0.002000	0.02628	-0.067000	0.11579	-0.468000	0.06922	-1.026000	0.02426	GCG	ZNF440	-	NULL	ENSG00000171295		0.443	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	-	0	76	0	C	NM_152357		11943541	1	tier1	rs201343885	no_errors	ENST00000304060	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.051	T	T	11943541	C	T	11943541	3	4	167	1	0	0	0	0	1	0	0	0	17961	768	27	1	1564	1	ZNF440	19	11943541	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	215371	11943541	47185442	154	42160											
ASNA1	439	genome.wustl.edu	37	chr19	12856259	12856259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggacaacatgctgagCatgggcaagaagatgatgca	15	5	15	6	0	0	4	0	2	0	2	0	7	0	6	0	3	4	4	0	3	3	0			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:12856259C>T	ENST00000591090.1	+	4	480	c.378C>T	c.(376-378)agC>agT	p.S126S	ASNA1_ENST00000357332.3_Silent_p.S126S					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						ACATGCTGAGCATGGGCAAGA	0.607																																																	0													77	66	70					19																	12856259		2203	4300	6503	SO:0001819	synonymous_variant	0			U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"golgi to ER traffic 3 homolog (S. cerevisiae)", "transmembrane domain recognition complex, 40kDa"	601913	"arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.378C>T	19.37:g.12856259C>T				Silent	SNP	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3	p.S126	ENST00000591090.1	37	c.378	CCDS32920.1	19																																																																																			ASNA1	-	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3	ENSG00000198356		0.607	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ASNA1	HGNC	protein_coding	OTTHUMT00000450921.1	-	0	50	0	C	NM_004317		12856259	1	tier1	-	no_errors	ENST00000357332	ensembl	human	known	74_37	silent	37.70	38	23	SNP	1.000	T	T	12856259	C	T	12856259	2	4	167	1	0	0	0	0	0	0	0	1	1048	709	25	3		3	ASNA1	19	12856259	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	912718	12856259	46272724	155	42161											
ZNF737	100129842	genome.wustl.edu	37	chr19	20728081	20728081	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcacatttgtagggtttctCtccgctatgaattatcttat	8	19	6	8	1	3	1	1	1	2	0	5	1	4	1	1	1	0	3	1	1	5	7			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:20728081C>G	ENST00000427401.4	-	4	1022	c.928G>C	c.(928-930)Gag>Cag	p.E310Q		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	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)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TAGGGTTTCTCTCCGCTATGA	0.413																																																	0													40	39	39					19																	20728081		692	1591	2283	SO:0001583	missense	0			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.928G>C	19.37:g.20728081C>G	ENSP00000395733:p.Glu310Gln		C9JHM3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E310Q	ENST00000427401.4	37	c.928	CCDS54238.1	19	.	.	.	.	.	.	.	.	.	.	-	15.47	2.841848	0.51057	.	.	ENSG00000237440	ENST00000427401	T	0.25912	1.77	0.801	0.801	0.18679	.	.	.	.	.	T	0.40886	0.1135	L	0.58428	1.81	0.26624	N	0.972602	D	0.76494	0.999	D	0.71870	0.975	T	0.17198	-1.0377	9	0.72032	D	0.01	.	6.955	0.24565	0.0:1.0:0.0:0.0	.	310	C9JHM3	.	Q	310	ENSP00000395733:E310Q	ENSP00000395733:E310Q	E	-	1	0	ZNF737	20519921	0.828000	0.29307	0.061000	0.19648	0.061000	0.15899	3.485000	0.53208	0.170000	0.19704	0.173000	0.16961	GAG	ZNF737	-	pfscan_Znf_C2H2	ENSG00000237440		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	-	0	74	0	C	NM_145289		20728081	-1	tier1	-	no_errors	ENST00000427401	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	G	G	20728081	C	G	20728081	3	3	167	1	0	0	0	0	1	0	0	0	18174	922	32	5	686	5	ZNF737	19	20728081	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	7871822	20728081	38400902	156	42162											
ZNF260	339324	genome.wustl.edu	37	chr19	37005062	37005062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccacattcattacaaccaTagggtttctcacctgtatgg	10	13	6	12	0	2	0	2	0	1	0	4	0	3	0	3	2	2	2	3	2	4	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:37005062T>C	ENST00000523638.1	-	3	2200	c.1079A>G	c.(1078-1080)tAt>tGt	p.Y360C	ZNF260_ENST00000588993.1_Missense_Mutation_p.Y360C|ZNF260_ENST00000592282.1_Missense_Mutation_p.Y360C|ZNF260_ENST00000593142.1_Missense_Mutation_p.Y360C	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	360					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)					ATTACAACCATAGGGTTTCTC	0.428																																																	0													114	104	108					19																	37005062		2203	4300	6503	SO:0001583	missense	0			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.1079A>G	19.37:g.37005062T>C	ENSP00000429803:p.Tyr360Cys		Q0VF43	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y360C	ENST00000523638.1	37	c.1079	CCDS33003.1	19	.	.	.	.	.	.	.	.	.	.	T	15.90	2.969960	0.53614	.	.	ENSG00000254004	ENST00000523638	T	0.69306	-0.39	4.17	4.17	0.49024	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75347	0.3837	L	0.56396	1.775	0.36098	D	0.843922	D	0.89917	1.0	D	0.74023	0.982	T	0.80708	-0.1262	9	0.87932	D	0	.	8.2495	0.31708	0.1778:0.0:0.0:0.8222	.	360	Q3ZCT1	ZN260_HUMAN	C	360	ENSP00000429803:Y360C	ENSP00000429803:Y360C	Y	-	2	0	ZNF260	41696902	0.000000	0.05858	0.994000	0.49952	0.998000	0.95712	-0.131000	0.10482	1.853000	0.53794	0.459000	0.35465	TAT	ZNF260	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000254004		0.428	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2	-	0	73	0	T	NM_001012756		37005062	-1	tier1	-	no_errors	ENST00000523638	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.996	C	C	37005062	T	C	37005062	3	2	167	1	0	0	0	0	1	0	0	0	17850	1406	49	4	163	4	ZNF260	19	37005062	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	16276981	37005062	22123921	157	42163											
SPTBN4	57731	genome.wustl.edu	37	chr19	41074109	41074109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	atgagcagatggagcggcggCgcgagcggcgtgagcggcgc	7	3	21	10	8	0	3	0	2	0	1	0	5	0	4	0	5	4	1	0	5	0	0			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:41074109C>T	ENST00000352632.3	+	31	6963	c.6877C>T	c.(6877-6879)Cgc>Tgc	p.R2293C	SPTBN4_ENST00000392025.1_Missense_Mutation_p.R1036C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R2293C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2293					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)			GGAGCGGCGGCGCGAGCGGCG	0.701																																																	0													13	13	13					19																	41074109		2190	4278	6468	SO:0001583	missense	0			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.6877C>T	19.37:g.41074109C>T	ENSP00000263373:p.Arg2293Cys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R2293C	ENST00000352632.3	37	c.6877	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569726	0.65765	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	D;T	0.83591	-1.74;-0.43	4.69	0.945	0.19543	.	0.000000	0.49916	U	0.000138	T	0.77046	0.4073	N	0.19112	0.55	0.35997	D	0.837093	D;D	0.76494	0.997;0.999	B;P	0.51895	0.446;0.683	T	0.80957	-0.1150	10	0.66056	D	0.02	.	12.2018	0.54331	0.5187:0.4813:0.0:0.0	.	1036;2293	C9JY79;Q9H254	.;SPTN4_HUMAN	C	2293;2293;1036	ENSP00000263373:R2293C;ENSP00000375879:R1036C	ENSP00000263373:R2293C	R	+	1	0	SPTBN4	45765949	0.954000	0.32549	0.884000	0.34674	0.960000	0.62799	0.140000	0.16056	0.342000	0.23796	0.561000	0.74099	CGC	SPTBN4	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin	ENSG00000160460		0.701	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0	63	0	C			41074109	1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	8.51	42	4	SNP	0.400	T	T	41074109	C	T	41074109	3	4	167	1	0	0	0	0	1	0	0	0	15168	768	27	1	7089	1	SPTBN4	19	41074109	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	4069047	41074109	18054874	158	42164											
CYP2F1	1572	genome.wustl.edu	37	chr19	41622165	41622165	+	Silent	SNP	A	A	G	1	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	ctgctcctgaccctaagctcAagagataagggaaagctgcc	12	7	10	12	0	1	2	1	1	0	1	2	4	2	3	3	1	4	3	3	1	4	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:41622165A>G	ENST00000331105.2	+	2	144	c.72A>G	c.(70-72)tcA>tcG	p.S24S		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	24					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						CCCTAAGCTCAAGAGATAAGG	0.567																																																	0													170	160	163					19																	41622165		2203	4300	6503	SO:0001819	synonymous_variant	0			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.72A>G	19.37:g.41622165A>G			A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S24	ENST00000331105.2	37	c.72	CCDS12572.1	19																																																																																			CYP2F1	-	NULL	ENSG00000197446		0.567	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2		0	48	0	A			41622165	1			no_errors	ENST00000331105	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.000	G	G	41622165	A	G	41622165	2	3	167	1	0	0	0	0	0	0	0	1	4180	117	5	4		4	CYP2F1	19	41622165	Silent	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	548056	41622165	17506818	159	42165											
MEGF8	1954	genome.wustl.edu	37	chr19	42880227	42880227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcaagtcgagccgcttctAcctgctgctgctgggcgtgg	4	10	13	14	3	2	0	1	0	1	0	3	1	2	0	3	2	5	4	3	2	2	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:42880227A>T	ENST00000251268.6	+	42	7838	c.7838A>T	c.(7837-7839)tAc>tTc	p.Y2613F	MEGF8_ENST00000378073.4_Missense_Mutation_p.Y207F|MEGF8_ENST00000334370.4_Missense_Mutation_p.Y2546F	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2613					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)				AGCCGCTTCTACCTGCTGCTG	0.687																																																	0													47	46	46					19																	42880227		2203	4298	6501	SO:0001583	missense	0			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.7838A>T	19.37:g.42880227A>T	ENSP00000251268:p.Tyr2613Phe		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.Y2613F	ENST00000251268.6	37	c.7838		19	.	.	.	.	.	.	.	.	.	.	A	12.25	1.881344	0.33255	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.35789	1.29;1.29	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000006	T	0.21145	0.0509	N	0.13272	0.32	0.49582	D	0.999809	B;B;B	0.29936	0.02;0.262;0.02	B;B;B	0.24701	0.023;0.055;0.035	T	0.07385	-1.0775	10	0.21014	T	0.42	-30.6656	13.6587	0.62354	1.0:0.0:0.0:0.0	.	207;2613;2546	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	F	2546;2613;207	ENSP00000334219:Y2546F;ENSP00000251268:Y2613F	ENSP00000251268:Y2613F	Y	+	2	0	MEGF8	47572067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.092000	0.64511	1.941000	0.56285	0.459000	0.35465	TAC	MEGF8	-	NULL	ENSG00000105429		0.687	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	-	0	23	0	A	NM_001410		42880227	1	tier1	-	no_errors	ENST00000251268	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	T	T	42880227	A	T	42880227	3	4	167	1	0	0	0	0	1	0	0	0	9501	391	14	5	7799	5	MEGF8	19	42880227	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	1258062	42880227	16248756	160	42166											
CEACAM16	388551	genome.wustl.edu	37	chr19	45211162	45211162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacgatgatcgtgcccGtgcccaccaagccaacggag	9	6	11	15	4	0	1	0	1	0	0	1	3	0	2	5	1	5	0	5	1	2	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:45211162G>A	ENST00000405314.2	+	5	1067	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	CEACAM16_ENST00000587331.1_Missense_Mutation_p.V324M|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	324					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)				GATCGTGCCCGTGCCCACCAA	0.652																																																	0													15	17	16					19																	45211162		2165	4248	6413	SO:0001583	missense	0				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.970G>A	19.37:g.45211162G>A	ENSP00000385576:p.Val324Met		A7LI12	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V324M	ENST00000405314.2	37	c.970	CCDS54278.1	19	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273076	0.40194	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.01665	4.7	5.87	3.69	0.42338	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01695	0.0054	L	0.41236	1.265	0.28400	N	0.918674	P	0.43662	0.814	B	0.33339	0.162	T	0.46527	-0.9185	9	0.49607	T	0.09	-23.7722	7.4779	0.27387	0.1992:0.0:0.8008:0.0	.	383	Q2WEN9	CEA16_HUMAN	M	389;324	ENSP00000385576:V324M	ENSP00000379974:V389M	V	+	1	0	CEACAM16	49903002	0.973000	0.33851	0.843000	0.33291	0.928000	0.56348	1.724000	0.38064	1.404000	0.46819	-0.355000	0.07637	GTG	CEACAM16	-	smart_Ig_sub	ENSG00000213892		0.652	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CEACAM16	HGNC	protein_coding		-	0	55	0	G	XM_371177		45211162	1	tier1	-	no_errors	ENST00000405314	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.929	A	A	45211162	G	A	45211162	3	1	167	1	0	0	0	0	1	0	0	0	3195	1145	40	1	988	1	CEACAM16	19	45211162	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	2330935	45211162	13917821	161	42167											
ERCC2	2068	genome.wustl.edu	37	chr19	45867776	45867776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtccaggaggtagtggtaGctataaaccaccacattggc	11	8	13	9	0	0	0	0	0	0	0	1	1	1	1	3	5	2	3	3	5	5	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:45867776G>T	ENST00000391945.4	-	8	701	c.624C>A	c.(622-624)agC>agA	p.S208R	ERCC2_ENST00000391944.3_Missense_Mutation_p.S130R|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000485403.2_Missense_Mutation_p.S184R|ERCC2_ENST00000391940.4_Missense_Mutation_p.S184R	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	208	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)		GGTAGTGGTAGCTATAAACCA	0.627			"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													48	39	42					19																	45867776		2203	4300	6503	SO:0001583	missense	0	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.624C>A	19.37:g.45867776G>T	ENSP00000375809:p.Ser208Arg		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.S208R	ENST00000391945.4	37	c.624	CCDS33049.1	19	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737839	0.69304	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.72282	-0.64;-0.64;0.84	4.62	1.9	0.25705	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	H	0.94222	3.51	0.80722	D	1	D;D;P	0.76494	0.999;0.972;0.777	D;D;P	0.81914	0.995;0.939;0.865	D	0.84944	0.0867	10	0.87932	D	0	-41.956	8.2808	0.31900	0.2328:0.0:0.7672:0.0	.	130;184;208	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	R	158;184;208;130;184	ENSP00000375809:S208R;ENSP00000375808:S130R;ENSP00000375804:S184R	ENSP00000375804:S184R	S	-	3	2	ERCC2	50559616	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	0.946000	0.29069	0.391000	0.25143	0.561000	0.74099	AGC	ERCC2	-	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000104884		0.627	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC2	HGNC	protein_coding	OTTHUMT00000109626.2	-	0	41	0	G	NM_000400		45867776	-1	tier1	-	no_errors	ENST00000391945	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	45867776	G	T	45867776	3	4	167	1	0	0	0	0	1	0	0	0	5229	962	34	3	1779	3	ERCC2	19	45867776	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	656614	45867776	13261207	162	42168											
GIPR	2696	genome.wustl.edu	37	chr19	46176172	46176172	+	Missense_Mutation	SNP	A	A	T	1	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	atggggactttggagagaccAtacacaatgtgagaacccag	14	7	12	8	0	0	2	0	1	0	2	0	6	0	4	2	3	2	0	2	3	3	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:46176172A>T	ENST00000590918.1	+	5	443	c.344A>T	c.(343-345)cAt>cTt	p.H115L	MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000263281.3_Missense_Mutation_p.H115L|GIPR_ENST00000304207.8_Missense_Mutation_p.H79L	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	115					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TGGAGAGACCATACACAATGT	0.517																																																	0													118	101	107					19																	46176172		2203	4300	6503	SO:0001583	missense	0				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"GPCR / Class B : Glucagon receptors"	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.344A>T	19.37:g.46176172A>T	ENSP00000467494:p.His115Leu		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.H115L	ENST00000590918.1	37	c.344	CCDS12671.1	19	.	.	.	.	.	.	.	.	.	.	A	9.554	1.116595	0.20795	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.50548	0.74;0.74	4.81	4.81	0.61882	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.52532	D	0.000076	T	0.50684	0.1630	L	0.31420	0.93	0.46774	D	0.999198	B;D;B	0.89917	0.042;1.0;0.02	B;D;B	0.91635	0.07;0.999;0.018	T	0.40924	-0.9537	10	0.11182	T	0.66	.	10.6792	0.45804	1.0:0.0:0.0:0.0	.	79;115;115	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	L	115;79	ENSP00000263281:H115L;ENSP00000305321:H79L	ENSP00000263281:H115L	H	+	2	0	GIPR	50868012	1.000000	0.71417	0.996000	0.52242	0.859000	0.49053	5.246000	0.65411	2.025000	0.59659	0.459000	0.35465	CAT	GIPR	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom	ENSG00000010310		0.517	GIPR-001	KNOWN	basic|CCDS	protein_coding	GIPR	HGNC	protein_coding	OTTHUMT00000459640.1	-	0	56	0	A			46176172	1	tier1	-	no_errors	ENST00000590918	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.999	T	T	46176172	A	T	46176172	3	4	167	1	0	0	0	0	1	0	0	0	6421	217	8	5	358	5	GIPR	19	46176172	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	308396	46176172	12952811	163	42169											
PGLYRP1	8993	genome.wustl.edu	37	chr19	46522790	46522790	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacagtcactcacccatgtAgttgcccatgaagctgatgc	10	9	10	12	0	2	2	2	2	0	0	2	3	2	3	2	1	3	3	2	1	2	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:46522790A>G	ENST00000008938.4	-	2	446	c.403T>C	c.(403-405)Tac>Cac	p.Y135H	MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	135					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		TCACCCATGTAGTTGCCCATG	0.602																																																	0													80	69	73					19																	46522790		2203	4300	6503	SO:0001583	missense	0			AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"peptidoglycan recognition protein"	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.403T>C	19.37:g.46522790A>G	ENSP00000008938:p.Tyr135His		Q4VB36	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition	p.Y135H	ENST00000008938.4	37	c.403	CCDS12680.1	19	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898140	0.72639	.	.	ENSG00000008438	ENST00000008938	T	0.13538	2.58	5.01	5.01	0.66863	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.710749	0.12294	N	0.481815	T	0.41213	0.1149	M	0.84948	2.725	0.28653	N	0.906552	D	0.89917	1.0	D	0.72982	0.979	T	0.34976	-0.9807	10	0.87932	D	0	-31.6898	11.1559	0.48486	1.0:0.0:0.0:0.0	.	135	O75594	PGRP1_HUMAN	H	135	ENSP00000008938:Y135H	ENSP00000008938:Y135H	Y	-	1	0	PGLYRP1	51214630	0.992000	0.36948	0.998000	0.56505	0.984000	0.73092	3.407000	0.52644	1.891000	0.54761	0.529000	0.55759	TAC	PGLYRP1	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition	ENSG00000008438		0.602	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP1	HGNC	protein_coding	OTTHUMT00000461695.1	-	0	102	0	A	NM_005091		46522790	-1	tier1	-	no_errors	ENST00000008938	ensembl	human	known	74_37	missense	36.36	49	28	SNP	0.993	G	G	46522790	A	G	46522790	3	3	167	1	0	0	0	0	1	0	0	0	11832	420	15	4	195	4	PGLYRP1	19	46522790	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	346618	46522790	12606193	164	42170											
ZNF135	7694	genome.wustl.edu	37	chr19	58578438	58578438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggggaacacgtggaaaaAgggagaagccagacctaaat	17	4	13	7	1	0	2	0	0	0	2	0	5	0	4	2	4	2	0	2	4	6	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr19:58578438A>G	ENST00000313434.5	+	5	687	c.586A>G	c.(586-588)Agg>Ggg	p.R196G	ZNF135_ENST00000401053.4_Missense_Mutation_p.R220G|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000511556.1_Missense_Mutation_p.R208G|ZNF135_ENST00000439855.2_Missense_Mutation_p.R196G|ZNF135_ENST00000359978.6_Missense_Mutation_p.R208G|ZNF135_ENST00000506786.1_Missense_Mutation_p.R154G	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	196					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACGTGGAAAAAGGGAGAAGCC	0.458																																																	0													65	64	65					19																	58578438		2203	4300	6503	SO:0001583	missense	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.586A>G	19.37:g.58578438A>G	ENSP00000321406:p.Arg196Gly		B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R220G	ENST00000313434.5	37	c.658		19	.	.	.	.	.	.	.	.	.	.	A	8.387	0.838946	0.16891	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.06294	3.42;3.49;3.43;3.43;3.43;3.32	2.94	2.94	0.34122	.	.	.	.	.	T	0.05960	0.0155	L	0.42245	1.32	0.09310	N	0.999991	B;B;B	0.23185	0.004;0.081;0.01	B;B;B	0.18263	0.003;0.021;0.004	T	0.28038	-1.0056	9	0.44086	T	0.13	.	4.798	0.13282	0.8599:0.0:0.1401:0.0	.	208;196;208	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	G	208;220;208;196;196;208;154	ENSP00000441410:R220G;ENSP00000369437:R208G;ENSP00000444828:R196G;ENSP00000321406:R196G;ENSP00000422074:R208G;ENSP00000427691:R154G	ENSP00000321406:R196G	R	+	1	2	ZNF135	63270250	.	.	0.003000	0.11579	0.052000	0.14988	.	.	1.609000	0.50190	0.374000	0.22700	AGG	ZNF135	-	NULL	ENSG00000176293		0.458	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2		0	71	0	A	NM_003436		58578438	1			no_errors	ENST00000401053	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.372	G	G	58578438	A	G	58578438	3	3	167	1	0	0	0	0	1	0	0	0	17773	63	3	4	789	4	ZNF135	19	58578438	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	12055648	58578438	550545	165	42171											
ZNF343	79175	genome.wustl.edu	37	chr20	2465211	2465211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttctgcacataagcccagGaagatctgaagtacatgttg	12	12	9	8	0	2	2	0	1	2	1	2	3	2	3	1	1	3	3	1	1	4	5			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr20:2465211G>A	ENST00000278772.4	-	6	883	c.396C>T	c.(394-396)ttC>ttT	p.F132F	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	132	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						ATAAGCCCAGGAAGATCTGAA	0.483																																																	0													86	86	86					20																	2465211		2203	4300	6503	SO:0001819	synonymous_variant	0			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.396C>T	20.37:g.2465211G>A			Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F132	ENST00000278772.4	37	c.396	CCDS13028.1	20																																																																																			ZNF343	-	pfscan_Krueppel-associated_box	ENSG00000088876		0.483	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	HGNC	protein_coding	OTTHUMT00000077617.1		0	48	0	G	NM_024325		2465211	-1			no_errors	ENST00000278772	ensembl	human	known	74_37	silent	8.77	52	5	SNP	0.049	A	A	2465211	G	A	2465211	2	1	167	1	0	0	0	0	0	0	0	1	17906	1165	41	3		3	ZNF343	20	2465211	Silent	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09		2465211	60560309	166	42172											
RPN2	6185	genome.wustl.edu	37	chr20	35864999	35864999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagctatgctgggactcatGtatgtctactggactcagct	8	12	11	10	0	3	0	2	0	1	0	3	2	3	2	0	2	4	5	0	2	3	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr20:35864999G>T	ENST00000237530.6	+	16	2081	c.1770G>T	c.(1768-1770)atG>atT	p.M590I	RPN2_ENST00000373622.5_Missense_Mutation_p.M558I|RPN2_ENST00000470352.1_3'UTR	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	590					aging (GO:0007568)|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)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TGGGACTCATGTATGTCTACT	0.488																																																	0													137	106	116					20																	35864999		2203	4300	6503	SO:0001583	missense	0			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1770G>T	20.37:g.35864999G>T	ENSP00000237530:p.Met590Ile		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	pfam_Swp1	p.M590I	ENST00000237530.6	37	c.1770	CCDS13291.1	20	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500731	0.85176	.	.	ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000397161;ENST00000437329	T;T;T	0.46063	0.88;0.88;0.88	4.98	4.98	0.66077	.	0.042277	0.85682	D	0.000000	T	0.52354	0.1729	L	0.57536	1.79	0.58432	D	0.999999	D;P	0.53462	0.96;0.931	P;P	0.54270	0.747;0.747	T	0.43605	-0.9381	10	0.28530	T	0.3	-19.6506	15.8004	0.78450	0.0:0.0:1.0:0.0	.	558;590	Q5JYR6;P04844	.;RPN2_HUMAN	I	590;558;97;97	ENSP00000237530:M590I;ENSP00000362724:M558I;ENSP00000409580:M97I	ENSP00000237530:M590I	M	+	3	0	RPN2	35298413	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.263000	0.95617	2.584000	0.87258	0.561000	0.74099	ATG	RPN2	-	pfam_Swp1	ENSG00000118705		0.488	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN2	HGNC	protein_coding	OTTHUMT00000079076.2	-	0	37	0	G	NM_002951		35864999	1	tier1	-	no_errors	ENST00000237530	ensembl	human	known	74_37	missense	32.81	43	21	SNP	1.000	T	T	35864999	G	T	35864999	3	4	167	1	0	0	0	0	1	0	0	0	13653	1377	48	3	1832	3	RPN2	20	35864999	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	33399788	35864999	27160521	167	42173											
PTPRT	11122	genome.wustl.edu	37	chr20	41100980	41100980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacagcaagagtcgcagcCggatggtcatgaaggggcgc	11	5	16	9	3	1	3	1	1	0	2	2	4	1	4	1	4	2	2	1	4	3	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr20:41100980C>T	ENST00000373187.1	-	8	1375	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q	PTPRT_ENST00000373190.1_Missense_Mutation_p.R459Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R459Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R459Q|PTPRT_ENST00000373198.4_Missense_Mutation_p.R459Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R459Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R459Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	459	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGTCGCAGCCGGATGGTCAT	0.602																																																	0													56	61	59					20																	41100980		2139	4244	6383	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1376G>A	20.37:g.41100980C>T	ENSP00000362283:p.Arg459Gln		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R459Q	ENST00000373187.1	37	c.1376	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107095	0.37145	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.28	4.13	0.48395	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.280739	0.35207	N	0.003365	T	0.31389	0.0795	N	0.25647	0.755	0.37488	D	0.916266	B;B	0.20052	0.041;0.024	B;B	0.19148	0.024;0.007	T	0.16778	-1.0391	10	0.15066	T	0.55	.	11.3478	0.49571	0.0:0.8416:0.0:0.1584	.	459;459	O14522-1;O14522	.;PTPRT_HUMAN	Q	459	ENSP00000362286:R459Q;ENSP00000362283:R459Q;ENSP00000362289:R459Q;ENSP00000348408:R459Q;ENSP00000362294:R459Q;ENSP00000362280:R459Q;ENSP00000362297:R459Q	ENSP00000348408:R459Q	R	-	2	0	PTPRT	40534394	0.918000	0.31147	1.000000	0.80357	0.875000	0.50365	2.084000	0.41625	2.480000	0.83734	0.455000	0.32223	CGG	PTPRT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196090		0.602	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	81	0	C			41100980	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	41.38	34	24	SNP	0.970	T	T	41100980	C	T	41100980	3	4	167	1	0	0	0	0	1	0	0	0	12857	652	23	1	3106	1	PTPRT	20	41100980	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	5235981	41100980	21924540	168	42174											
SPO11	23626	genome.wustl.edu	37	chr20	55904959	55904959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggggcccgaggcctcgttCttcgacgttttggaccgaca	6	10	13	12	5	1	0	0	0	1	0	3	4	1	1	3	4	0	2	3	4	0	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr20:55904959C>T	ENST00000371263.3	+	1	145	c.36C>T	c.(34-36)ttC>ttT	p.F12F	SPO11_ENST00000371260.4_Silent_p.F12F|SPO11_ENST00000345868.4_Silent_p.F12F	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	12					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AGGCCTCGTTCTTCGACGTTT	0.667								Editing and processing nucleases																																									0													40	37	38					20																	55904959		2203	4300	6503	SO:0001819	synonymous_variant	0			AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"cancer/testis antigen 35", "spermatogenesis associated 43"	605114	"SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like", "SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)", "SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.36C>T	20.37:g.55904959C>T			Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Silent	SNP	pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A	p.F12	ENST00000371263.3	37	c.36	CCDS13456.1	20																																																																																			SPO11	-	pfam_Meiosis_Spo11,prints_Meiotic_Spo11	ENSG00000054796		0.667	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPO11	HGNC	protein_coding	OTTHUMT00000079836.2	-	0	172	0	C	NM_012444		55904959	1	tier1	-	no_errors	ENST00000371263	ensembl	human	known	74_37	silent	10.44	163	19	SNP	0.964	T	T	55904959	C	T	55904959	2	4	167	1	0	0	0	0	0	0	0	1	15124	912	32	3		3	SPO11	20	55904959	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	14803979	55904959	7120561	169	42175											
RUNX1	861	genome.wustl.edu	37	chr21	36259190	36259190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcgccagtgcgtaggcagcaCggagcagaggaagttggggc	9	4	19	9	3	0	1	0	0	0	1	0	3	0	3	1	5	3	5	1	5	2	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr21:36259190C>T	ENST00000344691.4	-	1	1797	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	RUNX1_ENST00000358356.5_Missense_Mutation_p.V74M|RUNX1_ENST00000399240.1_Missense_Mutation_p.V74M|RUNX1_ENST00000437180.1_Missense_Mutation_p.V101M|RUNX1_ENST00000486278.2_Missense_Mutation_p.V77M|RUNX1_ENST00000300305.3_Missense_Mutation_p.V101M|RUNX1_ENST00000325074.5_Missense_Mutation_p.V89M	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	74	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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)	p.V101fs*37(1)|p.V90_K117del(1)		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						GTAGGCAGCACGGAGCAGAGG	0.701			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	2	Deletion - In frame(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)											59	56	57					21																	36259190		2203	4300	6503	SO:0001583	missense	0			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.220G>A	21.37:g.36259190C>T	ENSP00000340690:p.Val74Met		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	p.V101M	ENST00000344691.4	37	c.301	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.241820	0.95272	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278;ENST00000455571	D;D;D;D;D;D;D;D;D	0.99532	-6.1;-6.1;-6.1;-6.1;-6.1;-6.1;-6.1;-6.1;-6.1	4.72	4.72	0.59763	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.064020	0.64402	D	0.000008	D	0.99548	0.9838	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.994;0.99;0.998;0.915;0.996	D	0.98192	1.0463	10	0.87932	D	0	-18.0183	17.8668	0.88797	0.0:1.0:0.0:0.0	.	101;74;101;89;74	Q2TAM6;Q01196-3;Q01196-8;Q01196-10;Q01196	.;.;.;.;RUNX1_HUMAN	M	74;101;101;89;74;77;74;89;77;88	ENSP00000340690:V74M;ENSP00000300305:V101M;ENSP00000409227:V101M;ENSP00000319459:V89M;ENSP00000382184:V74M;ENSP00000351123:V74M;ENSP00000382182:V89M;ENSP00000438019:V77M;ENSP00000388189:V88M	ENSP00000300305:V101M	V	-	1	0	RUNX1	35181060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.179000	0.77665	2.447000	0.82792	0.563000	0.77884	GTG	RUNX1	-	pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	ENSG00000159216		0.701	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1		0	95	0	C			36259190	-1			no_errors	ENST00000300305	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	36259190	C	T	36259190	3	4	167	1	0	0	0	0	1	0	0	0	13791	536	19	1	1198	1	RUNX1	21	36259190	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09		36259190	11870705	170	42176											
HPS4	89781	genome.wustl.edu	37	chr22	26866727	26866727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcgagaatgtgaggcgagCgctggcaggtctgcagaatg	10	6	17	8	3	1	3	0	1	1	2	1	5	1	3	0	3	3	3	0	3	2	0	rs111522254		TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr22:26866727C>T	ENST00000398145.2	-	7	1170	c.554G>A	c.(553-555)cGc>cAc	p.R185H	HPS4_ENST00000398141.1_Missense_Mutation_p.R180H|HPS4_ENST00000336873.5_Missense_Mutation_p.R185H|HPS4_ENST00000402105.3_Missense_Mutation_p.R180H	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	185					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						GTGAGGCGAGCGCTGGCAGGT	0.567									Hermansky-Pudlak syndrome				C|||	1	0.000199681	0	0	5008	,	,		18689	0		0	False		,,,				2504	0.001																0													54	50	51					22																	26866727		2203	4300	6503	SO:0001583	missense	0	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.554G>A	22.37:g.26866727C>T	ENSP00000381213:p.Arg185His		B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	NULL	p.R180H	ENST00000398145.2	37	c.539	CCDS13835.1	22	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016572	0.93404	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.94275	0.8161	M	0.78637	2.42	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	0.94873	0.8032	10	0.87932	D	0	-29.2496	16.7503	0.85484	0.0:1.0:0.0:0.0	.	185;185;185;180;180	Q6ICH6;Q6P1K3;Q9NQG7;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.	H	185;180;180;185;185;185	ENSP00000381213:R185H;ENSP00000381210:R180H;ENSP00000384185:R180H;ENSP00000338457:R185H;ENSP00000415081:R185H	ENSP00000325840:R185H	R	-	2	0	HPS4	25196727	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	6.195000	0.72088	2.526000	0.85167	0.561000	0.74099	CGC	HPS4	-	NULL	ENSG00000100099		0.567	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	-	0	73	0	C	NM_022081		26866727	-1	tier1	rs111522254	no_errors	ENST00000398141	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.999	T	T	26866727	C	T	26866727	3	4	167	1	0	0	0	0	1	0	0	0	7368	768	27	1	1604	1	HPS4	22	26866727	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09		26866727	24437839	171	42177											
DRG1	4733	genome.wustl.edu	37	chr22	31799191	31799191	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaaggtgccaagatccagGtgagtcaagcctgcagacta	14	6	11	10	0	1	3	1	1	0	2	2	3	2	3	3	2	3	1	3	2	4	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr22:31799191G>A	ENST00000331457.4	+	3	503		c.e3+1		DRG1_ENST00000433341.1_Splice_Site	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CAAGATCCAGGTGAGTCAAGC	0.453																																																	0													62	54	57					22																	31799191		2203	4300	6503	SO:0001630	splice_region_variant	0			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.342+1G>A	22.37:g.31799191G>A			B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Splice_Site	SNP	-	e3+1	ENST00000331457.4	37	c.342+1	CCDS13897.1	22	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256112	0.80246	.	.	ENSG00000185721	ENST00000331457	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3368	0.87283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DRG1	30129191	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.832000	0.92079	2.756000	0.94617	0.655000	0.94253	.	DRG1	-	-	ENSG00000185721		0.453	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRG1	HGNC	protein_coding	OTTHUMT00000075680.5	-	0	59	0	G	NM_004147	Intron	31799191	1	tier1	-	no_errors	ENST00000331457	ensembl	human	known	74_37	splice_site	5.00	76	4	SNP	1.000	A	A	31799191	G	A	31799191	5	1	167	1	0	0	0	0	0	0	1	0	4775	1275	44	3	353	3	DRG1	22	31799191	Splice_Site	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	4932464	31799191	19505375	172	42178											
FBLN1	2192	genome.wustl.edu	37	chr22	45938145	45938145	+	Missense_Mutation	SNP	A	A	T	1	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	cgggttactattttgacggcAtcagcaggatgtgtgtcggt	7	13	14	7	3	1	1	1	1	0	0	2	2	1	2	0	4	2	3	0	4	2	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chr22:45938145A>T	ENST00000327858.6	+	10	1272	c.1177A>T	c.(1177-1179)Atc>Ttc	p.I393F	FBLN1_ENST00000262722.7_Missense_Mutation_p.I393F|FBLN1_ENST00000442170.2_Missense_Mutation_p.I393F|FBLN1_ENST00000348697.2_Missense_Mutation_p.I393F|FBLN1_ENST00000402984.3_Missense_Mutation_p.I431F|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000340923.5_Missense_Mutation_p.I393F	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	393	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTTTGACGGCATCAGCAGGAT	0.632																																																	0													72	75	74					22																	45938145		2203	4300	6503	SO:0001583	missense	0				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1177A>T	22.37:g.45938145A>T	ENSP00000331544:p.Ile393Phe		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.I393F	ENST00000327858.6	37	c.1177	CCDS14067.1	22	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154275	0.57259	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.87412	-2.23;-2.23;-2.23;-2.25;-2.23;-2.23	5.33	3.22	0.36961	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.097167	0.64402	D	0.000001	T	0.78201	0.4246	N	0.03084	-0.415	0.50171	D	0.999858	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.75020	0.978;0.969;0.985;0.984	T	0.74864	-0.3519	10	0.02654	T	1	.	5.479	0.16713	0.7024:0.1463:0.1513:0.0	.	431;393;393;393	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	F	393;431;393;393;393;393	ENSP00000262723:I393F;ENSP00000385521:I431F;ENSP00000262722:I393F;ENSP00000331544:I393F;ENSP00000393812:I393F;ENSP00000342212:I393F	ENSP00000262722:I393F	I	+	1	0	FBLN1	44316809	0.847000	0.29606	0.999000	0.59377	0.989000	0.77384	1.719000	0.38011	0.436000	0.26393	0.533000	0.62120	ATC	FBLN1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Fibulin-1,pfscan_EG-like_dom	ENSG00000077942		0.632	FBLN1-001	KNOWN	basic|CCDS	protein_coding	FBLN1	HGNC	protein_coding	OTTHUMT00000322287.1	-	0	43	0	A	NM_006486		45938145	1	tier1	-	no_errors	ENST00000327858	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.995	T	T	45938145	A	T	45938145	3	4	167	1	0	0	0	0	1	0	0	0	5720	217	8	5	1215	5	FBLN1	22	45938145	Missense_Mutation	SNP	A	TCGA-VR-A8EW-01A-11D-A36J-09	14138954	45938145	5366421	173	42179											
TMEM47	83604	genome.wustl.edu	37	chrX	34648476	34648476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttcaggcaataaaggatgGcacccccaaacgaaaatata	17	6	9	9	1	1	0	1	0	0	0	1	2	1	1	2	4	1	3	2	4	8	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:34648476G>A	ENST00000275954.3	-	3	758	c.500C>T	c.(499-501)gCc>gTc	p.A167V		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	167						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATAAAGGATGGCACCCCCAAA	0.418																																																	0													167	148	154					X																	34648476		2202	4300	6502	SO:0001583	missense	0			AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"transmembrane 4 superfamily member 10"	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.500C>T	X.37:g.34648476G>A	ENSP00000275954:p.Ala167Val		Q5JR44	Missense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.A167V	ENST00000275954.3	37	c.500	CCDS14235.1	X	.	.	.	.	.	.	.	.	.	.	G	16.31	3.085896	0.55861	.	.	ENSG00000147027	ENST00000275954	T	0.69806	-0.43	5.38	5.38	0.77491	.	0.046438	0.85682	D	0.000000	T	0.73521	0.3597	M	0.62723	1.935	0.80722	D	1	P	0.46064	0.872	P	0.51101	0.659	T	0.72858	-0.4165	10	0.36615	T	0.2	-30.4197	17.0296	0.86457	0.0:0.0:1.0:0.0	.	167	Q9BQJ4	TMM47_HUMAN	V	167	ENSP00000275954:A167V	ENSP00000275954:A167V	A	-	2	0	TMEM47	34558397	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.569000	0.53827	2.231000	0.72958	0.415000	0.27848	GCC	TMEM47	-	NULL	ENSG00000147027		0.418	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM47	HGNC	protein_coding	OTTHUMT00000056209.1	-	0	73	0	G	NM_031442		34648476	-1	tier1	-	no_errors	ENST00000275954	ensembl	human	known	74_37	missense	65.91	15	29	SNP	1.000	A	A	34648476	G	A	34648476	3	1	167	1	0	0	0	0	1	0	0	0	16218	1203	42	3	49	3	TMEM47	23	34648476	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09		34648476	120622084	174	42180											
TIMM17B	10245	genome.wustl.edu	37	chrX	48751196	48751196	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcaccatttcggaactgCtgggctgtgtagcgagtgag	8	11	13	9	2	1	1	1	1	0	0	2	3	1	2	1	2	4	3	1	2	3	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:48751196C>T	ENST00000376582.3	-	6	565	c.417G>A	c.(415-417)caG>caA	p.Q139Q	TIMM17B_ENST00000472645.1_5'UTR|TIMM17B_ENST00000396779.3_Silent_p.Q189Q|TIMM17B_ENST00000495490.2_Silent_p.Q159Q|TIMM17B_ENST00000465150.2_Silent_p.Q189Q	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	139					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)|large_intestine(1)|lung(3)|ovary(1)	6						TTCGGAACTGCTGGGCTGTGT	0.602																																																	0													51	41	45					X																	48751196		2203	4299	6502	SO:0001819	synonymous_variant	0			AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.417G>A	X.37:g.48751196C>T			A8K2E2|J3KPV3|Q9UJV0	Silent	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.Q189	ENST00000376582.3	37	c.567	CCDS14308.1	X																																																																																			TIMM17B	-	NULL	ENSG00000126768		0.602	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM17B	HGNC	protein_coding	OTTHUMT00000083411.2		0	66	0	C	NM_005834		48751196	-1			no_errors	ENST00000396779	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T	T	48751196	C	T	48751196	2	4	167	1	0	0	0	0	0	0	0	1	15956	796	28	3		3	TIMM17B	23	48751196	Silent	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	14102720	48751196	106519364	175	42181											
HUWE1	10075	genome.wustl.edu	37	chrX	53631641	53631641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtggcctgggctgagaggGtagcatcagcaacattgcct	8	9	15	9	0	1	1	1	1	0	1	1	2	1	1	2	3	4	4	2	3	2	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:53631641G>T	ENST00000342160.3	-	25	3108	c.2651C>A	c.(2650-2652)aCc>aAc	p.T884N	HUWE1_ENST00000218328.8_Missense_Mutation_p.T884N|HUWE1_ENST00000262854.6_Missense_Mutation_p.T884N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	884					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						GGCTGAGAGGGTAGCATCAGC	0.542																																																	0													88	67	75					X																	53631641		2203	4300	6503	SO:0001583	missense	0			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.2651C>A	X.37:g.53631641G>T	ENSP00000340648:p.Thr884Asn		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.T884N	ENST00000342160.3	37	c.2651	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916259	0.73098	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.43688	1.25;1.25;0.94	5.82	5.82	0.92795	.	0.412070	0.22986	N	0.053249	T	0.42854	0.1221	L	0.47716	1.5	0.58432	D	0.999999	D	0.54601	0.967	B	0.43386	0.418	T	0.38542	-0.9656	10	0.51188	T	0.08	.	17.7228	0.88357	0.0:0.0:1.0:0.0	.	884	Q7Z6Z7	HUWE1_HUMAN	N	884	ENSP00000340648:T884N;ENSP00000262854:T884N;ENSP00000218328:T884N	ENSP00000218328:T884N	T	-	2	0	HUWE1	53648366	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.197000	0.94985	2.458000	0.83093	0.600000	0.82982	ACC	HUWE1	-	NULL	ENSG00000086758		0.542	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	46	0	G	XM_497119		53631641	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	53631641	G	T	53631641	3	4	167	1	0	0	0	0	1	0	0	0	7488	1261	44	3	10709	3	HUWE1	23	53631641	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	4880445	53631641	101638919	176	42182											
PHF8	23133	genome.wustl.edu	37	chrX	54040940	54040940	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacattcctctggccacaagTtttcgacccatgacagcttt	9	12	6	14	1	1	1	0	1	1	0	3	2	2	1	3	1	1	2	3	1	1	4			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:54040940T>C	ENST00000357988.5	-	7	1119	c.761A>G	c.(760-762)aAc>aGc	p.N254S	PHF8_ENST00000338154.6_Missense_Mutation_p.N218S|PHF8_ENST00000322659.8_Missense_Mutation_p.N218S|PHF8_ENST00000338946.6_Missense_Mutation_p.N218S	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	254	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGGCCACAAGTTTTCGACCCA	0.463																																																	0													143	92	109					X																	54040940		2203	4300	6503	SO:0001583	missense	0			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.761A>G	X.37:g.54040940T>C	ENSP00000350676:p.Asn254Ser		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.N254S	ENST00000357988.5	37	c.761	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.19|19.19	3.780467|3.780467	0.70222|0.70222	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000396282	T;T;T;T|.	0.70045|.	-0.45;-0.45;-0.45;-0.45|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63486|0.63486	0.2515|0.2515	L|L	0.56124|0.56124	1.755|1.755	0.51233|0.51233	D|D	0.999917|0.999917	P;P;B|.	0.48911|.	0.865;0.917;0.052|.	B;P;B|.	0.48334|.	0.284;0.574;0.019|.	T|T	0.62181|0.62181	-0.6908|-0.6908	10|5	0.37606|.	T|.	0.19|.	-23.0543|-23.0543	13.154|13.154	0.59505|0.59505	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	218;254;254|.	B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;PHF8_HUMAN|.	S|A	254;218;218;248;218|122	ENSP00000350676:N254S;ENSP00000338868:N218S;ENSP00000340051:N218S;ENSP00000319473:N218S|.	ENSP00000319473:N218S|.	N|T	-|-	2|1	0|0	PHF8|PHF8	54057665|54057665	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.984000|0.984000	0.73092|0.73092	8.009000|8.009000	0.88606|0.88606	1.747000|1.747000	0.51819|0.51819	0.402000|0.402000	0.26972|0.26972	AAC|ACT	PHF8	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000172943		0.463	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	-	0	48	0	T	NM_015107		54040940	-1	tier1	-	no_errors	ENST00000357988	ensembl	human	known	74_37	missense	15.52	49	9	SNP	1.000	C	C	54040940	T	C	54040940	3	2	167	1	0	0	0	0	1	0	0	0	11879	1725	60	4	2655	4	PHF8	23	54040940	Missense_Mutation	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	409299	54040940	101229620	177	42183											
FAM123B	139285	genome.wustl.edu	37	chrX	63410562	63410562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcccaagtatcgagggaGgctgctcacaccccagggca	10	5	12	14	1	1	0	1	0	0	0	3	2	2	1	3	3	1	4	3	3	2	1			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:63410562G>T	ENST00000330258.3	-	2	2877	c.2605C>A	c.(2605-2607)Ctc>Atc	p.L869I	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	869					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)									TATCGAGGGAGGCTGCTCACA	0.577																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											43	46	45					X																	63410562		2120	4202	6322	SO:0001583	missense	0			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.2605C>A	X.37:g.63410562G>T	ENSP00000329117:p.Leu869Ile		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.L869I	ENST00000330258.3	37	c.2605	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803814	0.70682	.	.	ENSG00000184675	ENST00000330258	T	0.69561	-0.41	4.79	4.79	0.61399	.	.	.	.	.	T	0.69433	0.3110	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.68394	-0.5420	8	.	.	.	-7.1853	15.8198	0.78631	0.0:0.0:1.0:0.0	.	869	Q5JTC6	F123B_HUMAN	I	869	ENSP00000329117:L869I	.	L	-	1	0	FAM123B	63327287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.675000	0.91195	2.385000	0.81259	0.529000	0.55759	CTC	AMER1	-	NULL	ENSG00000184675		0.577	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER1	HGNC	protein_coding	OTTHUMT00000316584.1	-	0	49	0	G	NM_152424		63410562	-1	tier1	-	no_errors	ENST00000330258	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	T	T	63410562	G	T	63410562	3	4	167	1	0	0	0	0	1	0	0	0	5442	1000	35	3	806	3	FAM123B	23	63410562	Missense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	9369622	63410562	91859998	178	42184											
RLIM	51132	genome.wustl.edu	37	chrX	73812330	73812330	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactcaggcccagatatttGctgcctcaatgtcacatggt	10	11	8	12	0	3	1	3	0	0	1	3	1	3	1	2	2	3	1	2	2	3	2			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:73812330G>A	ENST00000332687.6	-	4	1038	c.820C>T	c.(820-822)Caa>Taa	p.Q274*	RLIM_ENST00000349225.2_Nonsense_Mutation_p.Q274*	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	274					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						CCAGATATTTGCTGCCTCAAT	0.458																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0													85	79	81					X																	73812330		2203	4300	6503	SO:0001587	stop_gained	0			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.820C>T	X.37:g.73812330G>A	ENSP00000328059:p.Gln274*		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q274*	ENST00000332687.6	37	c.820	CCDS14427.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.352647	0.97498	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	.	.	.	5.79	5.79	0.91817	.	0.435749	0.27645	N	0.018449	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.902	19.0094	0.92867	0.0:0.0:1.0:0.0	.	.	.	.	X	274	.	ENSP00000328059:Q274X	Q	-	1	0	RLIM	73729055	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.767000	0.68850	2.437000	0.82529	0.600000	0.82982	CAA	RLIM	-	NULL	ENSG00000131263		0.458	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1		0	22	0	G	NM_016120		73812330	-1			no_errors	ENST00000332687	ensembl	human	known	74_37	nonsense	12.50	28	4	SNP	0.999	A	A	73812330	G	A	73812330	4	1	167	1	0	0	0	0	0	1	0	0	13435	1328	46	3	1058	3	RLIM	23	73812330	Nonsense_Mutation	SNP	G	TCGA-VR-A8EW-01A-11D-A36J-09	10401768	73812330	81458230	179	42185											
ATRX	546	genome.wustl.edu	37	chrX	76855037	76855037	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttttttcccctttttcccTtttttcttctttctaaaaac	5	24	0	12	0	4	0	0	0	4	0	6	0	6	0	3	0	1	0	3	0	3	11			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:76855037T>C	ENST00000373344.5	-	25	6013	c.5799A>G	c.(5797-5799)aaA>aaG	p.K1933K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.K1895K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1933	Poly-Lys.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCTTTTTCCCTTTTTTCTTCT	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											285	268	274					X																	76855037		2203	4295	6498	SO:0001819	synonymous_variant	0			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.5799A>G	X.37:g.76855037T>C			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K1933	ENST00000373344.5	37	c.5799	CCDS14434.1	X																																																																																			ATRX	-	superfamily_P-loop_NTPase	ENSG00000085224		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2		0	33	0	T	NM_000489		76855037	-1			no_errors	ENST00000373344	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.972	C	C	76855037	T	C	76855037	2	2	167	1	0	0	0	0	0	0	0	1	1209	1606	56	4		4	ATRX	23	76855037	Silent	SNP	T	TCGA-VR-A8EW-01A-11D-A36J-09	3042707	76855037	78415523	180	42186											
GPRASP1	9737	genome.wustl.edu	37	chrX	101912226	101912226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaggaaattcgagagcatCttagggccaaggagagtaca	14	7	12	8	1	1	2	0	0	1	2	3	5	2	3	2	3	2	2	2	3	4	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:101912226C>G	ENST00000361600.5	+	5	4186	c.3385C>G	c.(3385-3387)Ctt>Gtt	p.L1129V	GPRASP1_ENST00000444152.1_Missense_Mutation_p.L1129V|GPRASP1_ENST00000537097.1_Missense_Mutation_p.L1129V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.L1129V	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1129	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCGAGAGCATCTTAGGGCCAA	0.443																																																	0													120	107	111					X																	101912226		2203	4300	6503	SO:0001583	missense	0			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.3385C>G	X.37:g.101912226C>G	ENSP00000355146:p.Leu1129Val		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.L1129V	ENST00000361600.5	37	c.3385	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	6.678	0.493612	0.12702	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	2.74	1.79	0.24919	Armadillo-type fold (1);	.	.	.	.	T	0.27098	0.0664	L	0.57536	1.79	0.23174	N	0.998173	D	0.69078	0.997	D	0.78314	0.991	T	0.07927	-1.0747	9	0.33141	T	0.24	-5.4347	6.527	0.22307	0.0:0.7011:0.2989:0.0	.	1129	Q5JY77	GASP1_HUMAN	V	1129	ENSP00000393691:L1129V;ENSP00000409420:L1129V;ENSP00000355146:L1129V;ENSP00000445683:L1129V	ENSP00000355146:L1129V	L	+	1	0	GPRASP1	101798882	0.999000	0.42202	0.966000	0.40874	0.498000	0.33706	0.885000	0.28227	0.514000	0.28300	0.284000	0.19432	CTT	GPRASP1	-	superfamily_ARM-type_fold	ENSG00000198932		0.443	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	-	0	47	0	C	NM_014710		101912226	1	tier1	-	no_errors	ENST00000361600	ensembl	human	known	74_37	missense	86.15	9	56	SNP	0.963	G	G	101912226	C	G	101912226	3	3	167	1	0	0	0	0	1	0	0	0	6749	913	32	5	3387	5	GPRASP1	23	101912226	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	25057189	101912226	53358334	181	42187											
IRS4	8471	genome.wustl.edu	37	chrX	107976076	107976076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcggcatcagcagcattagCaacaggttgaaaccagcggg	12	7	12	10	2	1	1	1	1	0	0	2	1	1	1	1	3	6	5	1	3	3	3			TCGA-VR-A8EW-01A-11D-A36J-09	TCGA-VR-A8EW-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e188d2cf-acf6-47b6-8120-3da5e16bb66e	2e2aac49-5d2c-4ebd-aead-33db1811eaba	g.chrX:107976076C>A	ENST00000372129.2	-	1	3575	c.3499G>T	c.(3499-3501)Gct>Tct	p.A1167S	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1167	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCAGCATTAGCAACAGGTTGA	0.642																																																	0													52	57	55					X																	107976076		2194	4286	6480	SO:0001583	missense	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3499G>T	X.37:g.107976076C>A	ENSP00000361202:p.Ala1167Ser			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.A1167S	ENST00000372129.2	37	c.3499	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058419	0.76074	.	.	ENSG00000133124	ENST00000372129	T	0.46063	0.88	4.49	4.49	0.54785	.	0.457681	0.18601	N	0.136451	T	0.32346	0.0826	L	0.27053	0.805	0.28795	N	0.899112	P	0.51057	0.941	P	0.44561	0.453	T	0.11542	-1.0583	10	0.34782	T	0.22	-1.611	11.4369	0.50072	0.0:1.0:0.0:0.0	.	1167	O14654	IRS4_HUMAN	S	1167	ENSP00000361202:A1167S	ENSP00000361202:A1167S	A	-	1	0	IRS4	107862732	0.994000	0.37717	0.978000	0.43139	0.878000	0.50629	1.767000	0.38501	2.471000	0.83476	0.600000	0.82982	GCT	IRS4	-	NULL	ENSG00000133124		0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	-	0	51	0	C	NM_003604		107976076	-1	tier1	-	no_errors	ENST00000372129	ensembl	human	known	74_37	missense	76.19	10	32	SNP	0.974	A	A	107976076	C	A	107976076	3	1	167	1	0	0	0	0	1	0	0	0	7869	710	25	3	278	3	IRS4	23	107976076	Missense_Mutation	SNP	C	TCGA-VR-A8EW-01A-11D-A36J-09	6063850	107976076	47294484	182	42188											
NADK	65220	genome.wustl.edu	37	chr1	1687745	1687745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcccgtctccccccaggcaGatgatgaagtctatctgatt	8	11	9	13	1	3	4	0	3	3	1	5	4	4	4	4	1	0	1	4	1	2	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:1687745G>C	ENST00000341426.5	-	6	758	c.537C>G	c.(535-537)atC>atG	p.I179M	NADK_ENST00000342348.5_Missense_Mutation_p.I147M|NADK_ENST00000344463.4_Missense_Mutation_p.I324M|NADK_ENST00000378625.1_Missense_Mutation_p.I324M|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000341991.3_Missense_Mutation_p.I179M	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	179					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCCCCAGGCAGATGATGAAGT	0.527																																																	0													114	115	115					1																	1687745		2203	4300	6503	SO:0001583	missense	0			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.537C>G	1.37:g.1687745G>C	ENSP00000341679:p.Ile179Met		A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ	p.I324M	ENST00000341426.5	37	c.972	CCDS30565.1	1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599532	0.66332	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.49	-3.44	0.04796	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	M	0.92219	3.285	0.49299	D	0.999778	D;D;D;D	0.76494	0.998;0.997;0.999;0.999	D;D;D;D	0.80764	0.981;0.99;0.992;0.994	T	0.69624	-0.5095	10	0.87932	D	0	-31.351	7.6833	0.28526	0.195:0.0:0.1778:0.6273	.	147;324;324;179	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	M	179;179;324;324;147;147	ENSP00000341679:I179M;ENSP00000344340:I179M;ENSP00000367890:I324M;ENSP00000340925:I324M;ENSP00000339727:I147M;ENSP00000383713:I147M	ENSP00000341679:I179M	I	-	3	3	NADK	1677605	0.987000	0.35691	0.911000	0.35937	0.983000	0.72400	0.123000	0.15708	-1.085000	0.03088	0.462000	0.41574	ATC	NADK	-	pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ	ENSG00000008130		0.527	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	HGNC	protein_coding	OTTHUMT00000002769.1	-	0	68	0	G	NM_023018		1687745	-1	tier1	-	no_errors	ENST00000344463	ensembl	human	known	74_37	missense	11.90	37	5	SNP	0.978	C	C	1687745	G	C	1687745	3	2	168	1	0	0	0	0	1	0	0	0	10175	932	33	5	831	5	NADK	1	1687745	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09		1687745	247562876	1	42189											
PRDM16	63976	genome.wustl.edu	37	chr1	3342259	3342259	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgcaaccgctgcttcggGcagcagaccaacctggaccg	8	6	12	15	3	0	1	0	0	0	1	1	2	0	2	4	2	5	5	4	2	2	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:3342259G>A	ENST00000270722.5	+	13	3103	c.3054G>A	c.(3052-3054)ggG>ggA	p.G1018G	PRDM16_ENST00000442529.2_Silent_p.G1017G|PRDM16_ENST00000378398.3_Silent_p.G1018G|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.G1018G|PRDM16_ENST00000511072.1_Silent_p.G1019G|PRDM16_ENST00000514189.1_Silent_p.G1018G|PRDM16_ENST00000441472.2_Silent_p.G1017G			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1018	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)		GCTGCTTCGGGCAGCAGACCA	0.642			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													76	88	84					1																	3342259		2130	4241	6371	SO:0001819	synonymous_variant	0			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.3054G>A	1.37:g.3342259G>A			A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.G1018	ENST00000270722.5	37	c.3054	CCDS41236.2	1																																																																																			PRDM16	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000142611		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	-	0	71	0	G	NM_022114		3342259	1	tier1	-	no_errors	ENST00000270722	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.994	A	A	3342259	G	A	3342259	2	1	168	1	0	0	0	0	0	0	0	1	12499	1190	42	3		3	PRDM16	1	3342259	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1654514	3342259	245908362	2	42190											
TNFRSF25	8718	genome.wustl.edu	37	chr1	6521693	6521693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgcgcagccccagcgtgCgcacgaactccttccagcgc	6	5	10	20	6	0	0	0	0	0	0	3	1	2	0	5	0	5	2	5	0	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:6521693C>T	ENST00000356876.3	-	10	1142	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	TNFRSF25_ENST00000351959.5_Missense_Mutation_p.R315H|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.R307H|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.R169H|TNFRSF25_ENST00000377782.3_Missense_Mutation_p.R361H|TNFRSF25_ENST00000461703.2_5'Flank	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	352	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|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)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCAGCGTGCGCACGAACTC	0.692																																																	0													19	20	19					1																	6521693		2202	4295	6497	SO:0001583	missense	0			U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"Tumor necrosis factor receptor superfamily"	11910	protein-coding gene	gene with protein product		603366	"tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.1055G>A	1.37:g.6521693C>T	ENSP00000349341:p.Arg352His		B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.R361H	ENST00000356876.3	37	c.1082	CCDS71.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.322526	0.95708	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000351748;ENST00000348333	D;D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3;-4.3	5.14	5.14	0.70334	Death (3);DEATH-like (2);	0.247460	0.21481	U	0.073834	D	0.98273	0.9428	M	0.73962	2.25	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.992;0.992;0.994;0.996;0.994;0.998	D	0.99564	1.0969	10	0.87932	D	0	-16.6554	17.1833	0.86860	0.0:1.0:0.0:0.0	.	361;307;315;352;353;169	Q93038-11;Q93038-9;Q93038-10;Q93038;Q93038-2;Q93038-8	.;.;.;TNR25_HUMAN;.;.	H	352;361;315;169;307	ENSP00000349341:R352H;ENSP00000367013:R361H;ENSP00000337713:R315H;ENSP00000326762:R169H;ENSP00000314451:R307H	ENSP00000314451:R307H	R	-	2	0	TNFRSF25	6444280	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.752000	0.68728	2.381000	0.81170	0.650000	0.86243	CGC	TNFRSF25	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000215788		0.692	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF25	HGNC	protein_coding	OTTHUMT00000002259.1	-	0	23	0	C	NM_148965		6521693	-1	tier1	-	no_errors	ENST00000377782	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	T	T	6521693	C	T	6521693	3	4	168	1	0	0	0	0	1	0	0	0	16343	768	27	1	202	1	TNFRSF25	1	6521693	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	3179434	6521693	242728928	3	42191											
RERE	473	genome.wustl.edu	37	chr1	8555218	8555218	+	Missense_Mutation	SNP	T	T	A	0	1	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	cattcctgcaaatgccgccaTgctccttcagaagaaaaggt	12	9	8	12	1	1	2	1	0	0	2	3	2	3	2	4	1	3	2	4	1	4	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:8555218T>A	ENST00000337907.3	-	11	1643	c.1009A>T	c.(1009-1011)Atg>Ttg	p.M337L	RERE_ENST00000377464.1_Missense_Mutation_p.M69L|RERE_ENST00000400908.2_Missense_Mutation_p.M337L|RERE_ENST00000400907.2_Missense_Mutation_p.M337L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	337	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				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)		AATGCCGCCATGCTCCTTCAG	0.463																																																	0													149	152	151					1																	8555218		2203	4300	6503	SO:0001583	missense	0			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.1009A>T	1.37:g.8555218T>A	ENSP00000338629:p.Met337Leu		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.M337L	ENST00000337907.3	37	c.1009	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118201	0.77323	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.83	5.83	0.93111	ELM2 domain (2);	.	.	.	.	T	0.49355	0.1552	L	0.49126	1.545	0.80722	D	1	P;P	0.49696	0.927;0.856	D;P	0.66602	0.945;0.881	T	0.44050	-0.9353	9	0.54805	T	0.06	-17.6569	15.0254	0.71667	0.0:0.0:0.0:1.0	.	69;337	B1AKN3;Q9P2R6	.;RERE_HUMAN	L	337;69;337;337	ENSP00000338629:M337L;ENSP00000366684:M69L;ENSP00000383699:M337L;ENSP00000383700:M337L	ENSP00000338629:M337L	M	-	1	0	RERE	8477805	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.731000	0.84895	2.227000	0.72691	0.459000	0.35465	ATG	RERE	-	pfam_ELM2_dom,pfscan_ELM2_dom	ENSG00000142599		0.463	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	-	0	40	0	T			8555218	-1	tier1	-	no_errors	ENST00000337907	ensembl	human	known	74_37	missense	17.07	34	7	SNP	1.000	A	A	8555218	T	A	8555218	3	1	168	1	0	0	0	0	1	0	0	0	13276	1464	51	5	3747	5	RERE	1	8555218	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	2033525	8555218	240695403	4	42192											
UBE4B	10277	genome.wustl.edu	37	chr1	10207055	10207055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggcctgtgctgatgctgGcctacttgacgagagcttcc	7	10	12	12	1	0	3	0	2	0	1	1	4	1	3	3	2	4	3	3	2	2	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:10207055G>A	ENST00000253251.8	+	18	2950	c.2111G>A	c.(2110-2112)gGc>gAc	p.G704D	UBE4B_ENST00000343090.6_Missense_Mutation_p.G833D|UBE4B_ENST00000377157.3_Missense_Mutation_p.G588D					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)		GCTGATGCTGGCCTACTTGAC	0.547																																																	0													161	136	145					1																	10207055		2203	4300	6503	SO:0001583	missense	0			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.2111G>A	1.37:g.10207055G>A	ENSP00000253251:p.Gly704Asp			Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.G833D	ENST00000253251.8	37	c.2498	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.485510	0.96323	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.42131	0.98;0.98;0.98	5.68	5.68	0.88126	Ubiquitin conjugation factor E4, core (1);	0.049384	0.85682	D	0.000000	T	0.66519	0.2797	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.993	T	0.62632	-0.6813	10	0.35671	T	0.21	-22.1202	19.8593	0.96777	0.0:0.0:1.0:0.0	.	704;833;704	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	D	704;588;833	ENSP00000253251:G704D;ENSP00000366362:G588D;ENSP00000343001:G833D	ENSP00000253251:G704D	G	+	2	0	UBE4B	10129642	1.000000	0.71417	0.680000	0.29994	0.987000	0.75469	9.472000	0.97709	2.700000	0.92200	0.558000	0.71614	GGC	UBE4B	-	pfam_Ub_conjug_fac_E4_core	ENSG00000130939		0.547	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1		0	48	0	G	NM_006048		10207055	1			no_errors	ENST00000343090	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	10207055	G	A	10207055	3	1	168	1	0	0	0	0	1	0	0	0	16932	1203	42	3	2572	3	UBE4B	1	10207055	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1651837	10207055	239043566	5	42193											
TNFRSF8	943	genome.wustl.edu	37	chr1	12172066	12172066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacggcctgcgtgagctgttCtcgaggtaagggcctcgtcc	5	9	14	13	4	1	1	0	1	1	0	4	2	2	1	3	3	2	3	3	3	1	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:12172066C>G	ENST00000263932.2	+	7	1010	c.788C>G	c.(787-789)tCt>tGt	p.S263C	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S152C	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	263					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)	GTGAGCTGTTCTCGAGGTAAG	0.577																																																	0													39	39	39					1																	12172066		2203	4300	6503	SO:0001583	missense	0			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.788C>G	1.37:g.12172066C>G	ENSP00000263932:p.Ser263Cys		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.S263C	ENST00000263932.2	37	c.788	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880143	0.51801	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	D;D	0.91686	-2.89;-2.89	3.85	1.68	0.24146	TNFR/CD27/30/40/95 cysteine-rich region (3);	19.177300	0.00166	N	0.000000	D	0.93406	0.7897	L	0.50333	1.59	0.09310	N	1	D;D	0.76494	0.983;0.999	P;D	0.64506	0.533;0.926	T	0.78816	-0.2055	10	0.40728	T	0.16	-0.9544	2.5944	0.04850	0.0:0.448:0.313:0.239	.	152;263	D3YTD8;P28908	.;TNR8_HUMAN	C	263;152	ENSP00000263932:S263C;ENSP00000390650:S152C	ENSP00000263932:S263C	S	+	2	0	TNFRSF8	12094653	0.000000	0.05858	0.017000	0.16124	0.231000	0.25187	-1.654000	0.01984	0.408000	0.25621	0.563000	0.77884	TCT	TNFRSF8	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg	ENSG00000120949		0.577	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1		0	42	0	C			12172066	1			no_errors	ENST00000263932	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.022	G	G	12172066	C	G	12172066	3	3	168	1	0	0	0	0	1	0	0	0	16346	913	32	5	814	5	TNFRSF8	1	12172066	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1965011	12172066	237078555	6	42194											
PADI3	51702	genome.wustl.edu	37	chr1	17597382	17597382	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccctgcaggatttctcGgcatcccctatcttcactga	6	12	7	16	1	3	1	1	1	2	0	5	2	4	2	4	2	2	2	4	2	1	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:17597382G>T	ENST00000375460.3	+	8	880	c.840G>T	c.(838-840)tcG>tcT	p.S280S		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	280					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGATTTCTCGGCATCCCCTA	0.577																																																	0													74	67	69					1																	17597382		2203	4300	6503	SO:0001819	synonymous_variant	0			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.840G>T	1.37:g.17597382G>T			Q58EY7|Q70SX5	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.S280	ENST00000375460.3	37	c.840	CCDS179.1	1																																																																																			PADI3	-	pfam_PAD_C,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub	ENSG00000142619		0.577	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1		0	38	0	G			17597382	1			no_errors	ENST00000375460	ensembl	human	known	74_37	silent	9.68	28	3	SNP	0.004	T	T	17597382	G	T	17597382	2	4	168	1	0	0	0	0	0	0	0	1	11418	1103	39	2		2	PADI3	1	17597382	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	5425316	17597382	231653239	7	42195											
ZNF683	257101	genome.wustl.edu	37	chr1	26688515	26688515	+	Splice_Site	SNP	T	T	C	0	1	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	tgaagcgcttgtggcacaccTgacgggaacgagcactggca	10	6	14	11	3	0	2	0	2	0	0	0	4	0	3	1	3	3	4	1	3	2	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:26688515T>C	ENST00000436292.1	-	7	1324		c.e7-2		ZNF683_ENST00000374204.1_Splice_Site|ZNF683_ENST00000403843.1_Splice_Site|ZNF683_ENST00000349618.3_Splice_Site			Q8IZ20	ZN683_HUMAN	zinc finger protein 683						natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GTGGCACACCTGACGGGAACG	0.607																																																	0													106	89	95					1																	26688515		2203	4300	6503	SO:0001630	splice_region_variant	0			BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1204-2A>G	1.37:g.26688515T>C			Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Splice_Site	SNP	-	e6-2	ENST00000436292.1	37	c.1204-2		1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416679	0.42918	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1145	0.53858	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF683	26561102	1.000000	0.71417	0.994000	0.49952	0.295000	0.27426	7.416000	0.80143	2.021000	0.59480	0.459000	0.35465	.	ZNF683	-	-	ENSG00000176083		0.607	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF683	HGNC	protein_coding	OTTHUMT00000009794.2	-	0	44	0	T	NM_173574	Intron	26688515	-1	tier1	-	no_errors	ENST00000403843	ensembl	human	known	74_37	splice_site	10.81	33	4	SNP	1.000	C	C	26688515	T	C	26688515	5	2	168	1	0	0	0	0	0	0	1	0	18138	1594	55	4	376	4	ZNF683	1	26688515	Splice_Site	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	9091133	26688515	222562106	8	42196											
GUCA2B	2981	genome.wustl.edu	37	chr1	42620505	42620505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcagcctgtctgcgcctCgcaggaggcttccagcatct	5	10	10	16	2	3	0	1	0	2	0	5	1	4	1	4	2	3	3	4	2	0	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:42620505C>T	ENST00000372581.1	+	2	275	c.245C>T	c.(244-246)tCg>tTg	p.S82L		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	82					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)				GTCTGCGCCTCGCAGGAGGCT	0.682																																																	0													51	50	51					1																	42620505		2203	4300	6503	SO:0001583	missense	0			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.245C>T	1.37:g.42620505C>T	ENSP00000361662:p.Ser82Leu		Q52LV0	Missense_Mutation	SNP	pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin	p.S82L	ENST00000372581.1	37	c.245	CCDS464.1	1	.	.	.	.	.	.	.	.	.	.	C	9.631	1.136430	0.21123	.	.	ENSG00000044012	ENST00000372581	T	0.46819	0.86	4.83	0.301	0.15781	.	0.713494	0.13579	N	0.377465	T	0.36826	0.0981	M	0.64997	1.995	0.09310	N	1	B	0.22683	0.073	B	0.21151	0.033	T	0.36553	-0.9743	10	0.48119	T	0.1	-14.4787	1.0976	0.01676	0.1621:0.3814:0.2461:0.2104	.	82	Q16661	GUC2B_HUMAN	L	82	ENSP00000361662:S82L	ENSP00000361662:S82L	S	+	2	0	GUCA2B	42393092	0.001000	0.12720	0.001000	0.08648	0.304000	0.27724	0.438000	0.21559	0.463000	0.27118	0.609000	0.83330	TCG	GUCA2B	-	pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin	ENSG00000044012		0.682	GUCA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA2B	HGNC	protein_coding	OTTHUMT00000018307.1	-	0	13	0	C	NM_007102		42620505	1	tier1	-	no_errors	ENST00000372581	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.000	T	T	42620505	C	T	42620505	3	4	168	1	0	0	0	0	1	0	0	0	6919	893	31	1	251	1	GUCA2B	1	42620505	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	15931990	42620505	206630116	9	42197											
GUCA2B	2981	genome.wustl.edu	37	chr1	42621215	42621215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tccctgcccagggaccatcgCtaacgacgactgtgagctgt	8	8	11	14	3	0	1	0	1	0	0	2	4	1	2	3	1	3	2	3	1	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:42621215C>A	ENST00000372581.1	+	3	317	c.287C>A	c.(286-288)gCt>gAt	p.A96D		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	96					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)				GGGACCATCGCTAACGACGAC	0.617																																																	0													215	159	178					1																	42621215		2203	4300	6503	SO:0001583	missense	0			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.287C>A	1.37:g.42621215C>A	ENSP00000361662:p.Ala96Asp		Q52LV0	Missense_Mutation	SNP	pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin	p.A96D	ENST00000372581.1	37	c.287	CCDS464.1	1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705936	0.30232	.	.	ENSG00000044012	ENST00000372581	T	0.51574	0.7	4.74	3.8	0.43715	.	0.472963	0.21739	N	0.069846	T	0.42921	0.1224	L	0.54323	1.7	0.20563	N	0.99989	B	0.24618	0.107	B	0.26202	0.067	T	0.40440	-0.9563	10	0.54805	T	0.06	-8.4098	10.1028	0.42515	0.2004:0.7995:0.0:0.0	.	96	Q16661	GUC2B_HUMAN	D	96	ENSP00000361662:A96D	ENSP00000361662:A96D	A	+	2	0	GUCA2B	42393802	0.157000	0.22836	0.015000	0.15790	0.011000	0.07611	2.186000	0.42593	0.940000	0.37473	0.563000	0.77884	GCT	GUCA2B	-	pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin	ENSG00000044012		0.617	GUCA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA2B	HGNC	protein_coding	OTTHUMT00000018307.1		0	21	0	C	NM_007102		42621215	1			no_errors	ENST00000372581	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.238	A	A	42621215	C	A	42621215	3	1	168	1	0	0	0	0	1	0	0	0	6919	797	28	3	297	3	GUCA2B	1	42621215	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	710	42621215	206629406	10	42198											
SPATA6	54558	genome.wustl.edu	37	chr1	48878823	48878823	+	Splice_Site	SNP	T	T	C	0	1	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	actcgaacactgctgtatcaTctaaaagtttaaagaaaaat	18	11	5	7	1	2	1	1	0	1	1	3	2	2	1	0	0	2	3	0	0	8	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:48878823T>C	ENST00000371847.3	-	4	403	c.239A>G	c.(238-240)tAt>tGt	p.Y80C	SPATA6_ENST00000371843.3_Splice_Site_p.Y80C|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Intron	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	80					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						TGCTGTATCATCTAAAAGTTT	0.254																																																	0													9	10	10					1																	48878823		2114	4188	6302	SO:0001630	splice_region_variant	0			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.239-1A>G	1.37:g.48878823T>C			Q5T3N7|Q8WUE6	Missense_Mutation	SNP	NULL	p.Y80C	ENST00000371847.3	37	c.239	CCDS551.1	1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.362494	0.41902	.	.	ENSG00000132122	ENST00000371847;ENST00000371843	T;T	0.11821	2.74;2.74	4.33	4.33	0.51752	.	0.400656	0.23636	N	0.046072	T	0.12518	0.0304	L	0.34521	1.04	0.80722	D	1	B;B	0.28713	0.22;0.047	B;B	0.37451	0.25;0.015	T	0.11060	-1.0603	10	0.38643	T	0.18	.	7.45	0.27234	0.2081:0.0:0.0:0.7919	.	80;80	Q9NWH7-2;Q9NWH7	.;SPAT6_HUMAN	C	80	ENSP00000360913:Y80C;ENSP00000360909:Y80C	ENSP00000360909:Y80C	Y	-	2	0	SPATA6	48651410	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	0.967000	0.29344	1.965000	0.57142	0.397000	0.26171	TAT	SPATA6	-	NULL	ENSG00000132122		0.254	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1	-	0	125	0	T	NM_019073	Missense_Mutation	48878823	-1	tier1	-	no_errors	ENST00000371847	ensembl	human	known	74_37	missense	6.03	109	7	SNP	1.000	C	C	48878823	T	C	48878823	5	2	168	1	0	0	0	0	0	0	1	0	15060	1449	50	4	1267	4	SPATA6	1	48878823	Splice_Site	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	6257608	48878823	200371798	11	42199											
PODN	127435	genome.wustl.edu	37	chr1	53544114	53544114	+	Missense_Mutation	SNP	T	T	A	0	1	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	agctgggctgccgcgcagccTggtgctgctgcacttggaga	5	8	16	12	2	0	1	0	0	0	1	0	2	0	1	2	3	6	6	2	3	0	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:53544114T>A	ENST00000312553.5	+	8	1083	c.1076T>A	c.(1075-1077)cTg>cAg	p.L359Q	PODN_ENST00000395871.2_Missense_Mutation_p.L217Q|PODN_ENST00000371500.3_Missense_Mutation_p.L340Q|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	311					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCGCGCAGCCTGGTGCTGCTG	0.632																																																	0													62	65	64					1																	53544114		2203	4300	6503	SO:0001583	missense	0			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1076T>A	1.37:g.53544114T>A	ENSP00000308315:p.Leu359Gln		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.L359Q	ENST00000312553.5	37	c.1076	CCDS573.1	1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.373359	0.82573	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	D;T;D	0.82711	-1.64;-0.5;-1.64	4.98	4.98	0.66077	.	0.159430	0.43919	D	0.000503	D	0.94208	0.8141	H	0.97240	3.965	0.42193	D	0.991737	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.987;0.994	D	0.96313	0.9230	10	0.87932	D	0	.	14.8213	0.70074	0.0:0.0:0.0:1.0	.	217;340;359	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	Q	340;217;359	ENSP00000360555:L340Q;ENSP00000379212:L217Q;ENSP00000308315:L359Q	ENSP00000308315:L359Q	L	+	2	0	PODN	53316702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.843000	0.62838	2.081000	0.62600	0.454000	0.30748	CTG	PODN	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000174348		0.632	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PODN	HGNC	protein_coding	OTTHUMT00000024735.1	-	0	61	0	T	NM_153703		53544114	1	tier1	-	no_errors	ENST00000312553	ensembl	human	known	74_37	missense	10.29	61	7	SNP	1.000	A	A	53544114	T	A	53544114	3	1	168	1	0	0	0	0	1	0	0	0	12217	1580	55	5	1106	5	PODN	1	53544114	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	4665291	53544114	195706507	12	42200											
LEPR	3953	genome.wustl.edu	37	chr1	66058442	66058442	+	Silent	SNP	T	T	C	0	1	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	tgttgtgaatgtcttgtgccTgtgccaacagccaaactcaa	10	12	9	10	0	2	1	1	1	1	0	2	1	2	1	3	0	5	1	3	0	4	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:66058442T>C	ENST00000349533.6	+	6	782	c.597T>C	c.(595-597)ccT>ccC	p.P199P	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Silent_p.P199P|LEPR_ENST00000371058.1_Silent_p.P199P|LEPR_ENST00000371059.3_Silent_p.P199P|LEPR_ENST00000344610.8_Silent_p.P199P	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)		GTCTTGTGCCTGTGCCAACAG	0.428																																																	0													149	134	139					1																	66058442		2203	4300	6503	SO:0001819	synonymous_variant	0			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.597T>C	1.37:g.66058442T>C			Q6FHL5	Silent	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P199	ENST00000349533.6	37	c.597	CCDS631.1	1																																																																																			LEPR	-	NULL	ENSG00000116678		0.428	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	-	0	31	0	T	NM_002303		66058442	1	tier1	-	no_errors	ENST00000349533	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.985	C	C	66058442	T	C	66058442	2	2	168	1	0	0	0	0	0	0	0	1	8756	1567	55	4		4	LEPR	1	66058442	Silent	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	12514328	66058442	183192179	13	42201											
LRRC7	57554	genome.wustl.edu	37	chr1	70225961	70225961	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaagaagaaatcatctCagttttagattactcccact	14	12	7	8	0	2	4	2	1	1	3	4	4	3	4	1	1	1	1	1	1	5	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:70225961C>A	ENST00000035383.5	+	1	104	c.74C>A	c.(73-75)tCa>tAa	p.S25*	LRRC7_ENST00000370958.1_Nonsense_Mutation_p.S63*|LRRC7_ENST00000310961.5_Nonsense_Mutation_p.S30*|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	25						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAAATCATCTCAGTTTTAGAT	0.463																																																	0													69	69	69					1																	70225961		2203	4300	6503	SO:0001587	stop_gained	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.74C>A	1.37:g.70225961C>A	ENSP00000035383:p.Ser25*		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.S25*	ENST00000035383.5	37	c.74	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.775022	0.98950	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	.	.	.	5.84	5.84	0.93424	.	0.142627	0.49305	D	0.000151	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	18.7077	0.91644	0.0:1.0:0.0:0.0	.	.	.	.	X	30;63;25;25	.	ENSP00000035383:S25X	S	+	2	0	LRRC7	69998549	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.818000	0.86416	2.768000	0.95171	0.650000	0.86243	TCA	LRRC7	-	NULL	ENSG00000033122		0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0	50	0	C	NM_020794		70225961	1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	nonsense	24.44	34	11	SNP	1.000	A	A	70225961	C	A	70225961	4	1	168	1	0	0	0	0	0	1	0	0	9055	838	29	3	76	3	LRRC7	1	70225961	Nonsense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	4167519	70225961	179024660	14	42202											
C1orf52	148423	genome.wustl.edu	37	chr1	85725158	85725158	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggtcccgggagccgcttCtccgccttgttcctacagcc	4	10	10	17	3	2	0	1	0	1	0	5	1	4	1	6	2	3	2	6	2	1	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:85725158C>T	ENST00000471115.1	-	1	167	c.159G>A	c.(157-159)gaG>gaA	p.E53E	C1orf52_ENST00000344356.5_Silent_p.E53E|C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	53							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)		GGAGCCGCTTCTCCGCCTTGT	0.627											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													38	42	41					1																	85725158		2203	4300	6503	SO:0001819	synonymous_variant	0			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.159G>A	1.37:g.85725158C>T		1239	B3KX89|Q8TDK5|Q8TDK6	Silent	SNP	NULL	p.E53	ENST00000471115.1	37	c.159	CCDS703.1	1																																																																																			C1orf52	-	NULL	ENSG00000162642		0.627	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf52	HGNC	protein_coding	OTTHUMT00000027616.2	-	0	139	0	C	NM_198077		85725158	-1	tier1	-	no_errors	ENST00000471115	ensembl	human	known	74_37	silent	14.01	135	22	SNP	1.000	T	T	85725158	C	T	85725158	2	4	168	1	0	0	0	0	0	0	0	1	2051	912	32	3		3	C1orf52	1	85725158	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	15499197	85725158	163525463	15	42203											
VCAM1	7412	genome.wustl.edu	37	chr1	101186144	101186144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagtccccatttttctcttgGagaacccagatagatagtcc	10	12	8	11	0	1	3	0	0	1	3	4	5	3	3	4	1	1	0	4	1	3	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:101186144G>C	ENST00000294728.2	+	2	278	c.177G>C	c.(175-177)tgG>tgC	p.W59C	VCAM1_ENST00000347652.2_Missense_Mutation_p.W59C|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.W59C	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	59	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)	TTTTCTCTTGGAGAACCCAGA	0.473																																																	0													79	73	75					1																	101186144		2203	4300	6503	SO:0001583	missense	0			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.177G>C	1.37:g.101186144G>C	ENSP00000294728:p.Trp59Cys		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N	p.W59C	ENST00000294728.2	37	c.177	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529336	0.64860	.	.	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	D;D;D	0.96300	-3.97;-3.97;-3.97	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051491	0.85682	D	0.000000	D	0.98510	0.9503	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.99072	1.0834	9	.	.	.	-9.3404	17.8974	0.88892	0.0:0.0:1.0:0.0	.	59;59	P19320-2;P19320	.;VCAM1_HUMAN	C	59	ENSP00000304611:W59C;ENSP00000294728:W59C;ENSP00000359133:W59C	.	W	+	3	0	VCAM1	100958732	1.000000	0.71417	0.999000	0.59377	0.671000	0.39405	6.266000	0.72540	2.745000	0.94114	0.655000	0.94253	TGG	VCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000162692		0.473	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	-	0	51	0	G	NM_001078		101186144	1	tier1	-	no_errors	ENST00000294728	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	C	C	101186144	G	C	101186144	3	2	168	1	0	0	0	0	1	0	0	0	17186	1183	41	5	183	5	VCAM1	1	101186144	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	15460986	101186144	148064477	16	42204											
MOV10	4343	genome.wustl.edu	37	chr1	113235484	113235484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagcatgatatccggcactAtgacctggagtcggtgccca	9	8	13	11	2	0	2	0	2	0	0	2	4	1	4	3	4	2	2	3	4	2	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:113235484A>G	ENST00000413052.2	+	7	1463	c.1073A>G	c.(1072-1074)tAt>tGt	p.Y358C	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.Y358C|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.Y302C|MOV10_ENST00000357443.2_Missense_Mutation_p.Y358C	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	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)|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)		ATCCGGCACTATGACCTGGAG	0.612																																																	0													50	42	44					1																	113235484		2203	4300	6503	SO:0001583	missense	0			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.1073A>G	1.37:g.113235484A>G	ENSP00000399797:p.Tyr358Cys		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.Y358C	ENST00000413052.2	37	c.1073	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.861024	0.91433	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.96300	-3.97;-3.97;-3.94;-3.97	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	M	0.78049	2.395	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	0.98552	1.0637	10	0.66056	D	0.02	-11.1753	16.2708	0.82618	1.0:0.0:0.0:0.0	.	302;358;358	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	C	358;358;358;302;358;296	ENSP00000399797:Y358C;ENSP00000358659:Y358C;ENSP00000358658:Y302C;ENSP00000350028:Y358C	ENSP00000285733:Y358C	Y	+	2	0	MOV10	113037007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.526000	0.90588	2.324000	0.78689	0.533000	0.62120	TAT	MOV10	-	NULL	ENSG00000155363		0.612	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	-	0	33	0	A	NM_020963		113235484	1	tier1	-	no_errors	ENST00000357443	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	G	G	113235484	A	G	113235484	3	3	168	1	0	0	0	0	1	0	0	0	9756	449	16	4	1095	4	MOV10	1	113235484	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	12049340	113235484	136015137	17	42205											
PTGFRN	5738	genome.wustl.edu	37	chr1	117487302	117487302	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagctttctctctccgcagtGctggccgactccctgcacgt	4	12	9	16	3	2	0	0	0	2	0	5	1	3	0	3	1	3	4	3	1	1	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:117487302G>A	ENST00000393203.2	+	3	567	c.420G>A	c.(418-420)gtG>gtA	p.V140V		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	140					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)		TCTCCGCAGTGCTGGCCGACT	0.711																																																	0													6	7	6					1																	117487302		1810	3709	5519	SO:0001630	splice_region_variant	0			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.419-1G>A	1.37:g.117487302G>A			Q5VVU9|Q8N2K6	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.V140	ENST00000393203.2	37	c.420	CCDS890.1	1																																																																																			PTGFRN	-	smart_Ig_sub	ENSG00000134247		0.711	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1		0	82	0	G	NM_020440	Silent	117487302	1			no_errors	ENST00000393203	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	A	A	117487302	G	A	117487302	5	1	168	1	0	0	0	0	0	0	1	0	12793	1333	46	3	430	3	PTGFRN	1	117487302	Splice_Site	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	4251818	117487302	131763319	18	42206											
HRNR	388697	genome.wustl.edu	37	chr1	152191248	152191248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcgtagctggaggagtGacctgagccagatccatgct	8	11	13	9	1	0	3	0	2	0	1	2	5	1	5	3	2	3	4	3	2	1	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:152191248G>T	ENST00000368801.2	-	3	2932	c.2857C>A	c.(2857-2859)Cac>Aac	p.H953N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	953					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)			CTGGAGGAGTGACCTGAGCCA	0.547																																																	0													268	263	265					1																	152191248		2203	4297	6500	SO:0001583	missense	0			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.2857C>A	1.37:g.152191248G>T	ENSP00000357791:p.His953Asn		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.H953N	ENST00000368801.2	37	c.2857	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	5.405	0.260000	0.10239	.	.	ENSG00000197915	ENST00000368801	T	0.01613	4.73	3.62	0.135	0.14775	.	.	.	.	.	T	0.00468	0.0015	L	0.34521	1.04	0.09310	N	1	B	0.27625	0.183	B	0.21708	0.036	T	0.42015	-0.9476	9	0.18276	T	0.48	.	5.8623	0.18754	0.1151:0.3699:0.515:0.0	.	953	Q86YZ3	HORN_HUMAN	N	953	ENSP00000357791:H953N	ENSP00000357791:H953N	H	-	1	0	HRNR	150457872	0.007000	0.16637	0.000000	0.03702	0.007000	0.05969	0.526000	0.22971	0.176000	0.19873	0.456000	0.33151	CAC	HRNR	-	NULL	ENSG00000197915		0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	147	0	G	XM_373868		152191248	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	24.59	92	30	SNP	0.000	T	T	152191248	G	T	152191248	3	4	168	1	0	0	0	0	1	0	0	0	7386	1290	45	3	5699	3	HRNR	1	152191248	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	34703946	152191248	97059373	19	42207											
FLG	2312	genome.wustl.edu	37	chr1	152280935	152280935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcctcctctgcttggccCcgggtgtccacgaatggtgt	3	13	11	14	2	2	0	0	0	2	0	5	1	5	0	5	3	1	1	5	3	1	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:152280935C>T	ENST00000368799.1	-	3	6462	c.6427G>A	c.(6427-6429)Ggg>Agg	p.G2143R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2143	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)			CTGCTTGGCCCCGGGTGTCCA	0.572									Ichthyosis																																								0													397	318	345					1																	152280935		2203	4300	6503	SO:0001583	missense	0	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.6427G>A	1.37:g.152280935C>T	ENSP00000357789:p.Gly2143Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G2143R	ENST00000368799.1	37	c.6427	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	c	5.472	0.272080	0.10349	.	.	ENSG00000143631	ENST00000368799	T	0.00745	5.75	3.12	-1.78	0.07957	.	.	.	.	.	T	0.00328	0.0010	M	0.69823	2.125	0.09310	N	1	B	0.21225	0.053	B	0.20767	0.031	T	0.40194	-0.9576	9	0.17369	T	0.5	.	3.5169	0.07728	0.0:0.3776:0.201:0.4214	.	2143	P20930	FILA_HUMAN	R	2143	ENSP00000357789:G2143R	ENSP00000357789:G2143R	G	-	1	0	FLG	150547559	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.733000	0.00380	-0.492000	0.06687	-0.350000	0.07774	GGG	FLG	-	NULL	ENSG00000143631		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	169	0	C	NM_002016		152280935	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	13.70	126	20	SNP	0.000	T	T	152280935	C	T	152280935	3	4	168	1	0	0	0	0	1	0	0	0	5944	623	22	3	5762	3	FLG	1	152280935	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	89687	152280935	96969686	20	42208											
FAM189B	10712	genome.wustl.edu	37	chr1	155217905	155217905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggatatctggaggaaaCgagtgaccaggccccgacct	10	7	12	12	2	1	1	0	1	1	0	2	6	2	4	5	4	1	0	5	4	2	1	rs201013021		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:155217905C>T	ENST00000361361.2	-	11	2278	c.1769G>A	c.(1768-1770)cGt>cAt	p.R590H	FAM189B_ENST00000368368.3_Missense_Mutation_p.R572H|FAM189B_ENST00000350210.2_Missense_Mutation_p.R494H|FAM189B_ENST00000472550.1_5'Flank	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	590						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						CTGGAGGAAACGAGTGACCAG	0.607																																																	0													35	39	37					1																	155217905		2203	4300	6503	SO:0001583	missense	0			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.1769G>A	1.37:g.155217905C>T	ENSP00000354958:p.Arg590His		B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	pfam_CD20-like	p.R590H	ENST00000361361.2	37	c.1769	CCDS1103.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116135	0.77323	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361;ENST00000491082	T;T;T;T	0.39056	1.26;1.71;1.72;1.1	4.41	4.41	0.53225	.	0.073132	0.56097	D	0.000040	T	0.31327	0.0793	N	0.08118	0	0.31730	N	0.637225	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;P;D;P	0.85130	0.997;0.906;0.957;0.906	T	0.35992	-0.9766	10	0.72032	D	0.01	.	12.745	0.57276	0.0:1.0:0.0:0.0	.	355;572;494;590	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	H	494;572;590;273;312	ENSP00000307128:R494H;ENSP00000357352:R572H;ENSP00000354958:R590H;ENSP00000427011:R312H	ENSP00000323164:R273H	R	-	2	0	FAM189B	153484529	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.896000	0.48656	2.457000	0.83068	0.555000	0.69702	CGT	FAM189B	-	NULL	ENSG00000160767		0.607	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189B	HGNC	protein_coding	OTTHUMT00000087224.1	-	0	75	0	C	NM_006589		155217905	-1	tier1	-	no_errors	ENST00000361361	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	155217905	C	T	155217905	3	4	168	1	0	0	0	0	1	0	0	0	5536	536	19	1	245	1	FAM189B	1	155217905	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	2936970	155217905	94032716	21	42209											
SLC25A44	9673	genome.wustl.edu	37	chr1	156180163	156180163	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattgtcattgtggtgggcTatgagagcctcaagaaactc	10	11	11	9	0	2	2	2	1	0	2	3	3	2	2	2	2	2	1	2	2	3	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:156180163T>C	ENST00000359511.4	+	4	1058	c.886T>C	c.(886-888)Tat>Cat	p.Y296H	PMF1_ENST00000567140.1_5'Flank|PMF1_ENST00000368273.4_5'Flank|PMF1-BGLAP_ENST00000320139.5_5'Flank|PMF1_ENST00000368279.3_5'Flank|PMF1-BGLAP_ENST00000490491.1_5'Flank|PMF1_ENST00000565805.1_5'Flank|PMF1_ENST00000368277.3_5'Flank|PMF1-BGLAP_ENST00000368276.4_5'Flank|SLC25A44_ENST00000423538.2_Missense_Mutation_p.Y273H|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	296					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)					TGTGGTGGGCTATGAGAGCCT	0.567																																																	0													91	83	86					1																	156180163		2203	4300	6503	SO:0001583	missense	0			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.886T>C	1.37:g.156180163T>C	ENSP00000352497:p.Tyr296His		O75034	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Y296H	ENST00000359511.4	37	c.886	CCDS1133.1	1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041128	0.75732	.	.	ENSG00000160785	ENST00000359511;ENST00000423538;ENST00000412949	D;D	0.84873	-1.91;-1.91	4.71	3.59	0.41128	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92678	0.7673	H	0.96720	3.87	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	0.92677	0.6155	10	0.87932	D	0	-9.8379	8.3457	0.32272	0.0:0.0936:0.0:0.9064	.	273;273;296	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	H	296;273;144	ENSP00000352497:Y296H;ENSP00000407560:Y273H	ENSP00000352497:Y296H	Y	+	1	0	SLC25A44	154446787	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.596000	0.82721	0.845000	0.35118	0.533000	0.62120	TAT	SLC25A44	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000160785		0.567	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1	-	0	80	0	T	NM_014655		156180163	1	tier1	-	no_errors	ENST00000359511	ensembl	human	known	74_37	missense	6.98	80	6	SNP	1.000	C	C	156180163	T	C	156180163	3	2	168	1	0	0	0	0	1	0	0	0	14554	1522	53	4	896	4	SLC25A44	1	156180163	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	962258	156180163	93070458	22	42210											
OR10K1	391109	genome.wustl.edu	37	chr1	158435698	158435698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ctctcactccttcctgctggCagccatgggctatgatcgct	5	12	9	15	1	1	1	1	1	1	0	5	1	3	1	3	2	2	4	3	2	1	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:158435698C>A	ENST00000289451.2	+	1	427	c.347C>A	c.(346-348)gCa>gAa	p.A116E		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|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)					TTCCTGCTGGCAGCCATGGGC	0.527																																																	0													168	166	167					1																	158435698		2203	4300	6503	SO:0001583	missense	0			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.347C>A	1.37:g.158435698C>A	ENSP00000289451:p.Ala116Glu		Q6IFS2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A116E	ENST00000289451.2	37	c.347	CCDS30897.1	1	.	.	.	.	.	.	.	.	.	.	c	14.12	2.440177	0.43326	.	.	ENSG00000173285	ENST00000289451	T	0.00484	7.08	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000659	T	0.01092	0.0036	H	0.94771	3.58	0.24096	N	0.995898	D	0.89917	1.0	D	0.87578	0.998	T	0.27054	-1.0085	10	0.87932	D	0	.	11.8933	0.52641	0.1752:0.8248:0.0:0.0	.	116	Q8NGX5	O10K1_HUMAN	E	116	ENSP00000289451:A116E	ENSP00000289451:A116E	A	+	2	0	OR10K1	156702322	0.110000	0.22057	1.000000	0.80357	0.261000	0.26267	1.211000	0.32382	2.311000	0.77944	0.557000	0.71058	GCA	OR10K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000173285		0.527	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	HGNC	protein_coding	OTTHUMT00000046367.1	-	0	38	0	C			158435698	1	tier1	-	no_errors	ENST00000289451	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.993	A	A	158435698	C	A	158435698	3	1	168	1	0	0	0	0	1	0	0	0	10952	710	25	3	349	3	OR10K1	1	158435698	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	2255535	158435698	90814923	23	42211											
OR6N1	128372	genome.wustl.edu	37	chr1	158736112	158736112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagatggctaaatacctatCgtaggccatagctgtcagga	12	9	11	9	1	1	1	1	0	0	1	2	2	1	2	2	3	2	4	2	3	6	5	rs145448358		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:158736112C>T	ENST00000335094.2	-	1	380	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, 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(2)		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)					AAATACCTATCGTAGGCCATA	0.512																																																	2	Substitution - Missense(2)	endometrium(1)|skin(1)						C	ASN/ASP	0,4406		0,0,2203	51	54	53		361	5.1	1	1	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6N1	NM_001005185.1	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	121/313	158736112	1,13005	2203	4300	6503	SO:0001583	missense	0			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.361G>A	1.37:g.158736112C>T	ENSP00000335535:p.Asp121Asn		Q5VUU8|Q96R35	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D121N	ENST00000335094.2	37	c.361	CCDS30905.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927901	0.92389	0.0	1.16E-4	ENSG00000197403	ENST00000335094	T	0.18016	2.24	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000184	T	0.50973	0.1647	H	0.96080	3.765	0.51482	D	0.99992	D	0.89917	1.0	D	0.85130	0.997	T	0.67377	-0.5686	10	0.72032	D	0.01	-17.9464	17.4367	0.87554	0.0:1.0:0.0:0.0	.	121	Q8NGY5	OR6N1_HUMAN	N	121	ENSP00000335535:D121N	ENSP00000335535:D121N	D	-	1	0	OR6N1	157002736	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.459000	0.80802	2.623000	0.88846	0.655000	0.94253	GAT	OR6N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197403		0.512	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	-	0	39	0	C	NM_001005185		158736112	-1	tier1	rs145448358	no_errors	ENST00000335094	ensembl	human	known	74_37	missense	26.76	52	19	SNP	1.000	T	T	158736112	C	T	158736112	3	4	168	1	0	0	0	0	1	0	0	0	11245	884	31	1	580	1	OR6N1	1	158736112	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	300414	158736112	90514509	24	42212											
FCGR2B	2213	genome.wustl.edu	37	chr1	161642865	161642865	+	Silent	SNP	A	A	G	1	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	aagcctctggtcaaggtcacAttcttccagaatggaaaatc	13	10	8	10	0	4	1	2	0	2	1	6	2	5	2	2	3	1	0	2	3	5	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:161642865A>G	ENST00000358671.5	+	4	573	c.492A>G	c.(490-492)acA>acG	p.T164T	FCGR2B_ENST00000428605.2_Silent_p.T164T|FCGR2B_ENST00000236937.9_Silent_p.T164T|FCGR2B_ENST00000367962.4_Silent_p.T164T|FCGR2B_ENST00000403078.3_Silent_p.T164T|FCGR2B_ENST00000367960.5_Silent_p.T157T|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Silent_p.T157T	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	164	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						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)|Antithymocyte globulin(DB00098)|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)	TCAAGGTCACATTCTTCCAGA	0.527			T	?	ALL																																			Dom	yes		1	1q23	2213	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"		L	0													16	19	18					1																	161642865		2150	4258	6408	SO:0001819	synonymous_variant	0			BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3618	protein-coding gene	gene with protein product		604590	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.492A>G	1.37:g.161642865A>G			A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T164	ENST00000358671.5	37	c.492	CCDS30924.1	1																																																																																			FCGR2B	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000072694		0.527	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	FCGR2B	HGNC	protein_coding	OTTHUMT00000083337.4		0	119	0	A	NM_004001		161642865	1			no_errors	ENST00000358671	ensembl	human	known	74_37	silent	6.12	92	6	SNP	0.685	G	G	161642865	A	G	161642865	2	3	168	1	0	0	0	0	0	0	0	1	5804	204	8	4		4	FCGR2B	1	161642865	Silent	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	2906753	161642865	87607756	25	42213											
DNM3	26052	genome.wustl.edu	37	chr1	171958093	171958093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccacacagtgttaaatCtaacccttattgatctacct	11	15	3	12	0	2	1	0	1	2	0	3	1	3	1	3	0	2	1	3	0	5	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:171958093C>A	ENST00000355305.5	+	4	551	c.394C>A	c.(394-396)Cta>Ata	p.L132I	DNM3_ENST00000367731.1_Missense_Mutation_p.L132I|DNM3_ENST00000520906.1_Missense_Mutation_p.L132I|DNM3_ENST00000358155.4_Missense_Mutation_p.L132I|DNM3_ENST00000367733.2_Missense_Mutation_p.L132I			Q9UQ16	DYN3_HUMAN	dynamin 3	132	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						AGTGTTAAATCTAACCCTTAT	0.383																																																	0													41	39	40					1																	171958093		1891	4118	6009	SO:0001583	missense	0			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.394C>A	1.37:g.171958093C>A	ENSP00000347457:p.Leu132Ile		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.L132I	ENST00000355305.5	37	c.394		1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440866	0.83993	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.9	3.99	0.46301	.	0.069005	0.64402	D	0.000012	D	0.98093	0.9371	M	0.90145	3.09	0.58432	D	0.999996	D;D;D;D	0.76494	0.999;0.992;0.984;0.994	D;D;D;D	0.97110	1.0;0.997;0.995;0.997	D	0.97784	1.0234	10	0.49607	T	0.09	.	10.9072	0.47086	0.0:0.8427:0.0:0.1573	.	132;132;132;132	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	I	132;132;132;132;132;132;22	ENSP00000350876:L132I;ENSP00000356707:L132I;ENSP00000347457:L132I;ENSP00000356705:L132I;ENSP00000429701:L132I;ENSP00000429416:L22I	ENSP00000347457:L132I	L	+	1	2	DNM3	170224716	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.679000	0.46909	0.788000	0.33755	0.650000	0.86243	CTA	DNM3	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	ENSG00000197959		0.383	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	HGNC	protein_coding	OTTHUMT00000084531.1	-	0	52	0	C	NM_015569		171958093	1	tier1	-	no_errors	ENST00000358155	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A	A	171958093	C	A	171958093	3	1	168	1	0	0	0	0	1	0	0	0	4687	912	32	3	408	3	DNM3	1	171958093	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	10315228	171958093	77292528	26	42214											
FASLG	356	genome.wustl.edu	37	chr1	172634774	172634774	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttcaggcaagtccaactCaaggtccatgcctctggaat	11	11	8	11	0	3	0	2	0	1	0	5	1	5	1	3	3	2	1	3	3	5	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:172634774C>G	ENST00000367721.2	+	4	648	c.464C>G	c.(463-465)tCa>tGa	p.S155*	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	155					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						AAGTCCAACTCAAGGTCCATG	0.448																																					Ovarian(28;486 876 30334 44033)												0													107	96	100					1																	172634774		2203	4300	6503	SO:0001587	stop_gained	0			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.464C>G	1.37:g.172634774C>G	ENSP00000356694:p.Ser155*		Q9BZP9	Nonsense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL,prints_TNF,prints_TNF_C	p.S155*	ENST00000367721.2	37	c.464	CCDS1304.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828046	0.90955	.	.	ENSG00000117560	ENST00000367721	.	.	.	5.24	5.24	0.73138	.	0.587910	0.16366	N	0.217529	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-18.5591	11.4623	0.50217	0.1796:0.8204:0.0:0.0	.	.	.	.	X	155	.	ENSP00000356694:S155X	S	+	2	0	FASLG	170901397	0.949000	0.32298	1.000000	0.80357	0.643000	0.38383	2.464000	0.45067	2.455000	0.83008	0.650000	0.86243	TCA	FASLG	-	superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL	ENSG00000117560		0.448	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASLG	HGNC	protein_coding	OTTHUMT00000084276.1	-	0	39	0	C			172634774	1	tier1	-	no_errors	ENST00000367721	ensembl	human	known	74_37	nonsense	15.00	33	6	SNP	0.931	G	G	172634774	C	G	172634774	4	3	168	1	0	0	0	0	0	1	0	0	5704	838	29	5	478	5	FASLG	1	172634774	Nonsense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	676681	172634774	76615847	27	42215											
RALGPS2	55103	genome.wustl.edu	37	chr1	178855196	178855196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgatagcgtcatggagcCccatgcgccatctcgaggcc	9	7	12	13	3	2	2	1	1	1	1	3	4	2	3	4	2	3	0	4	2	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:178855196C>T	ENST00000367635.3	+	13	1471	c.1133C>T	c.(1132-1134)cCc>cTc	p.P378L	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.P378L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	378					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTCATGGAGCCCCATGCGCCA	0.403																																																	0													82	84	83					1																	178855196		2203	4300	6503	SO:0001583	missense	0			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1133C>T	1.37:g.178855196C>T	ENSP00000356607:p.Pro378Leu		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.P378L	ENST00000367635.3	37	c.1133	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612821	0.66672	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	T;T;T	0.41758	0.99;0.99;0.99	5.55	5.55	0.83447	.	0.239871	0.41712	D	0.000823	T	0.38506	0.1043	L	0.47716	1.5	0.80722	D	1	B;B	0.23540	0.019;0.087	B;B	0.23716	0.028;0.048	T	0.22417	-1.0217	10	0.11182	T	0.66	.	19.1111	0.93317	0.0:1.0:0.0:0.0	.	378;378	B7Z7B1;Q86X27	.;RGPS2_HUMAN	L	378;378;343;27	ENSP00000356607:P378L;ENSP00000356606:P378L;ENSP00000313613:P343L	ENSP00000313613:P343L	P	+	2	0	RALGPS2	177121819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.717000	0.68446	2.623000	0.88846	0.655000	0.94253	CCC	RALGPS2	-	NULL	ENSG00000116191		0.403	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	-	0	62	0	C	NM_152663		178855196	1	tier1	-	no_errors	ENST00000367635	ensembl	human	known	74_37	missense	28.12	46	18	SNP	1.000	T	T	178855196	C	T	178855196	3	4	168	1	0	0	0	0	1	0	0	0	13063	623	22	3	1179	3	RALGPS2	1	178855196	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	6220422	178855196	70395425	28	42216											
HMCN1	83872	genome.wustl.edu	37	chr1	186099708	186099708	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgggaatgcaatcctgaAttgtgaggtgaaaggagacc	12	9	15	5	0	0	4	0	3	0	1	1	6	1	5	2	4	1	1	2	4	4	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:186099708A>C	ENST00000271588.4	+	85	13338	c.13109A>C	c.(13108-13110)aAt>aCt	p.N4370T	HMCN1_ENST00000367492.2_Missense_Mutation_p.N4370T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4370	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						GCAATCCTGAATTGTGAGGTG	0.463																																																	0													108	104	106					1																	186099708		2203	4300	6503	SO:0001583	missense	0			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.13109A>C	1.37:g.186099708A>C	ENSP00000271588:p.Asn4370Thr		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.N4370T	ENST00000271588.4	37	c.13109	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.510111	0.85282	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	5.58	5.58	0.84498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.083018	0.85682	D	0.000000	T	0.49047	0.1534	N	0.04724	-0.175	0.58432	D	0.999999	P	0.48834	0.916	P	0.49252	0.604	T	0.50268	-0.8848	10	0.19590	T	0.45	.	16.0439	0.80704	1.0:0.0:0.0:0.0	.	4370	Q96RW7	HMCN1_HUMAN	T	4370	ENSP00000271588:N4370T;ENSP00000356462:N4370T	ENSP00000271588:N4370T	N	+	2	0	HMCN1	184366331	1.000000	0.71417	0.792000	0.32020	0.997000	0.91878	9.277000	0.95755	2.250000	0.74265	0.482000	0.46254	AAT	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	78	0	A	NM_031935		186099708	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	10.17	53	6	SNP	1.000	C	C	186099708	A	C	186099708	3	2	168	1	0	0	0	0	1	0	0	0	7247	101	4	4	13447	4	HMCN1	1	186099708	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	7244512	186099708	63150913	29	42217											
HMCN1	83872	genome.wustl.edu	37	chr1	186113763	186113763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggctgctccgaccctgtgCcccagtatggaggaaggaaa	9	6	15	11	1	0	0	0	0	0	0	1	4	1	3	4	5	2	3	4	5	3	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:186113763C>T	ENST00000271588.4	+	91	14423	c.14194C>T	c.(14194-14196)Ccc>Tcc	p.P4732S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4732S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4732	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CGACCCTGTGCCCCAGTATGG	0.532																																																	0													132	123	126					1																	186113763		2203	4300	6503	SO:0001583	missense	0			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.14194C>T	1.37:g.186113763C>T	ENSP00000271588:p.Pro4732Ser		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.P4732S	ENST00000271588.4	37	c.14194	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946023	0.92593	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.61627	0.09;0.09	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.80934	0.4719	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82729	-0.0313	10	0.66056	D	0.02	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	4732	Q96RW7	HMCN1_HUMAN	S	4732	ENSP00000271588:P4732S;ENSP00000356462:P4732S	ENSP00000271588:P4732S	P	+	1	0	HMCN1	184380386	1.000000	0.71417	0.964000	0.40570	0.945000	0.59286	5.747000	0.68689	2.765000	0.95021	0.650000	0.86243	CCC	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143341		0.532	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	56	0	C	NM_031935		186113763	1			no_errors	ENST00000271588	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	186113763	C	T	186113763	3	4	168	1	0	0	0	0	1	0	0	0	7247	739	26	3	14556	3	HMCN1	1	186113763	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	14055	186113763	63136858	30	42218											
RGS18	64407	genome.wustl.edu	37	chr1	192129548	192129548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaatggggtgaatcatttGacaaactgctttcccataga	13	12	9	7	0	1	4	1	3	0	1	2	4	2	4	1	2	2	1	1	2	4	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:192129548G>A	ENST00000367460.3	+	3	443	c.262G>A	c.(262-264)Gac>Aac	p.D88N	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	88	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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						TGAATCATTTGACAAACTGCT	0.363																																																	0													130	116	120					1																	192129548		2203	4300	6503	SO:0001583	missense	0			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.262G>A	1.37:g.192129548G>A	ENSP00000356430:p.Asp88Asn		B2RD23	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.D88N	ENST00000367460.3	37	c.262	CCDS1374.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169900	0.78452	.	.	ENSG00000150681	ENST00000367460	T	0.65916	-0.18	6.03	6.03	0.97812	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.085822	0.85682	D	0.000000	T	0.78407	0.4278	M	0.78344	2.41	0.58432	D	0.999999	B	0.32409	0.37	P	0.49597	0.616	T	0.77281	-0.2646	10	0.72032	D	0.01	.	19.1206	0.93362	0.0:0.0:1.0:0.0	.	88	Q9NS28	RGS18_HUMAN	N	88	ENSP00000356430:D88N	ENSP00000356430:D88N	D	+	1	0	RGS18	190396171	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.497000	0.60367	2.861000	0.98227	0.655000	0.94253	GAC	RGS18	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	ENSG00000150681		0.363	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS18	HGNC	protein_coding	OTTHUMT00000086382.1	-	0	139	0	G	NM_130782		192129548	1	tier1	-	no_errors	ENST00000367460	ensembl	human	known	74_37	missense	12.17	101	14	SNP	1.000	A	A	192129548	G	A	192129548	3	1	168	1	0	0	0	0	1	0	0	0	13345	1290	45	3	272	3	RGS18	1	192129548	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	6015785	192129548	57121073	31	42219											
CAMK1G	57172	genome.wustl.edu	37	chr1	209782332	209782332	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgctgcaggctctgtGgataccccccattctatgaa	7	12	9	13	0	2	1	0	1	2	0	3	2	3	2	4	2	3	3	4	2	3	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:209782332G>T	ENST00000009105.1	+	8	888	c.643G>T	c.(643-645)Gga>Tga	p.G215*	CAMK1G_ENST00000361322.2_Nonsense_Mutation_p.G215*|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CAGGCTCTGTGGATACCCCCC	0.507																																					Ovarian(163;530 1939 9680 28669 48710)												0													106	102	103					1																	209782332		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.643G>T	1.37:g.209782332G>T	ENSP00000009105:p.Gly215*		Q86UH5|Q9Y3J7	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G215*	ENST00000009105.1	37	c.643	CCDS1486.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.222640	0.95139	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	.	.	.	5.48	5.48	0.80851	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3515	0.94389	0.0:0.0:1.0:0.0	.	.	.	.	X	215	.	ENSP00000009105:G215X	G	+	1	0	CAMK1G	207848955	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	9.507000	0.97996	2.593000	0.87608	0.561000	0.74099	GGA	CAMK1G	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000008118		0.507	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1G	HGNC	protein_coding	OTTHUMT00000088526.1		0	77	0	G	NM_020439		209782332	1			no_errors	ENST00000009105	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	1.000	T	T	209782332	G	T	209782332	4	4	168	1	0	0	0	0	0	1	0	0	2605	1349	47	3	669	3	CAMK1G	1	209782332	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	17652784	209782332	39468289	32	42220											
OBSCN	84033	genome.wustl.edu	37	chr1	228525810	228525810	+	Missense_Mutation	SNP	T	T	C	0	1	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	ccagcccctcacggcagggcTgggtgtcaccagcctacctg	6	6	12	17	1	2	0	2	0	0	0	2	0	2	0	6	3	3	2	6	3	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:228525810T>C	ENST00000422127.1	+	67	17010	c.16966T>C	c.(16966-16968)Tgg>Cgg	p.W5656R	OBSCN_ENST00000570156.2_Missense_Mutation_p.W6613R|OBSCN_ENST00000366709.4_Missense_Mutation_p.W2775R|OBSCN_ENST00000284548.11_Missense_Mutation_p.W5656R|OBSCN_ENST00000366707.4_Missense_Mutation_p.W3290R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5656	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)				ACGGCAGGGCTGGGTGTCACC	0.667																																																	0													18	20	20					1																	228525810		2013	4190	6203	SO:0001583	missense	0			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.16966T>C	1.37:g.228525810T>C	ENSP00000409493:p.Trp5656Arg		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.W5656R	ENST00000422127.1	37	c.16966	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.0|27.0	4.786677|4.786677	0.90367|0.90367	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.|T;T;T;T	.|0.37584	.|1.19;1.19;1.19;1.19	4.15|4.15	4.15|4.15	0.48705|0.48705	.|Src homology-3 domain (2);Dbl homology (DH) domain (1);	.|0.086098	.|0.50627	.|D	.|0.000101	T|T	0.53850|0.53850	0.1822|0.1822	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.70935	.|0.936;0.971	T|T	0.52223|0.52223	-0.8604|-0.8604	5|10	.|0.34782	.|T	.|0.22	.|.	13.6308|13.6308	0.62193|0.62193	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|5656;5656	.|Q5VST9;Q5VST9-3	.|OBSCN_HUMAN;.	P|R	271|5656;5656;3290;2775	.|ENSP00000284548:W5656R;ENSP00000409493:W5656R;ENSP00000355668:W3290R;ENSP00000355670:W2775R	.|ENSP00000284548:W5656R	L|W	+|+	2|1	0|0	OBSCN|OBSCN	226592433|226592433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.769000|7.769000	0.85360|0.85360	1.884000|1.884000	0.54569|0.54569	0.402000|0.402000	0.26972|0.26972	CTG|TGG	OBSCN	-	superfamily_DH-domain,superfamily_SH3_domain	ENSG00000154358		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding			0	53	0	T	NM_052843		228525810	1			no_errors	ENST00000422127	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	C	C	228525810	T	C	228525810	3	2	168	1	0	0	0	0	1	0	0	0	10851	1580	55	4	17228	4	OBSCN	1	228525810	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	18743478	228525810	20724811	33	42221											
ACTN2	88	genome.wustl.edu	37	chr1	236908039	236908039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggcagcgcaccaggacCgcgtggagcagatcgcagcc	9	3	14	15	4	0	1	0	0	0	1	1	3	0	3	4	3	3	4	4	3	0	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:236908039C>T	ENST00000366578.4	+	12	1535	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	ACTN2_ENST00000542672.1_Missense_Mutation_p.R457C|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	457					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.R457C(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCACCAGGACCGCGTGGAGCA	0.642																																																	1	Substitution - Missense(1)	large_intestine(1)											61	53	56					1																	236908039		2203	4300	6503	SO:0001583	missense	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1369C>T	1.37:g.236908039C>T	ENSP00000355537:p.Arg457Cys		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R457C	ENST00000366578.4	37	c.1369	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124656	0.77436	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.55588	0.51;0.51	5.17	4.23	0.50019	.	0.045259	0.85682	N	0.000000	T	0.80259	0.4590	H	0.95850	3.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.86099	0.1555	10	0.87932	D	0	.	13.2905	0.60269	0.346:0.654:0.0:0.0	.	242;457;227;457	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	C	457;457;226	ENSP00000443495:R457C;ENSP00000355537:R457C	ENSP00000355537:R457C	R	+	1	0	ACTN2	234974662	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.463000	0.35277	1.247000	0.43917	0.563000	0.77884	CGC	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.642	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1		0	23	0	C	NM_001103		236908039	1			no_errors	ENST00000366578	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	236908039	C	T	236908039	3	4	168	1	0	0	0	0	1	0	0	0	205	652	23	1	1415	1	ACTN2	1	236908039	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	8382229	236908039	12342582	34	42222											
KIF26B	55083	genome.wustl.edu	37	chr1	245772708	245772708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagtccgggtttccgccGtggaagtgtgggggaaggag	6	9	18	8	3	1	0	1	0	1	0	4	3	3	3	3	5	0	1	3	5	2	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:245772708G>A	ENST00000407071.2	+	8	2232	c.1792G>A	c.(1792-1794)Gtg>Atg	p.V598M	KIF26B_ENST00000366518.4_Missense_Mutation_p.V217M	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	598	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGTTTCCGCCGTGGAAGTGTG	0.622																																																	0													22	26	24					1																	245772708		1926	4126	6052	SO:0001583	missense	0			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.1792G>A	1.37:g.245772708G>A	ENSP00000385545:p.Val598Met		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V598M	ENST00000407071.2	37	c.1792	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352756	0.61293	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76060	-0.99;-0.99	5.22	5.22	0.72569	Kinesin, motor domain (4);	.	.	.	.	T	0.81842	0.4908	L	0.37750	1.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.83134	-0.0112	9	0.62326	D	0.03	.	19.1397	0.93443	0.0:0.0:1.0:0.0	.	217;598	B7WPD9;Q2KJY2	.;KI26B_HUMAN	M	598;217;214	ENSP00000385545:V598M;ENSP00000355475:V217M	ENSP00000355475:V217M	V	+	1	0	KIF26B	243839331	1.000000	0.71417	0.998000	0.56505	0.543000	0.35085	7.969000	0.87988	2.590000	0.87494	0.650000	0.86243	GTG	KIF26B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000162849		0.622	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0	82	0	G	XM_371354		245772708	1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	7.79	71	6	SNP	1.000	A	A	245772708	G	A	245772708	3	1	168	1	0	0	0	0	1	0	0	0	8322	1145	40	1	1822	1	KIF26B	1	245772708	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	8864669	245772708	3477913	35	42223											
OR2G3	81469	genome.wustl.edu	37	chr1	247769531	247769531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cattccaccagcactcatctCcatctcctatggcttcataa	10	12	3	16	0	4	0	2	0	2	0	7	0	5	0	4	1	1	2	4	1	2	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:247769531C>G	ENST00000320002.2	+	1	676	c.644C>G	c.(643-645)tCc>tGc	p.S215C	RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	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)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			GCACTCATCTCCATCTCCTAT	0.478																																																	0													214	182	193					1																	247769531		2203	4300	6503	SO:0001583	missense	0			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"GPCR / Class A : Olfactory receptors"	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.644C>G	1.37:g.247769531C>G	ENSP00000326301:p.Ser215Cys		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S215C	ENST00000320002.2	37	c.644	CCDS31093.1	1	.	.	.	.	.	.	.	.	.	.	C	3.769	-0.048099	0.07407	.	.	ENSG00000177476	ENST00000320002	T	0.00099	8.73	3.52	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	0.534907	0.13637	U	0.373278	T	0.00109	0.0003	N	0.11818	0.18	0.09310	N	1	B	0.24882	0.113	B	0.24269	0.052	T	0.17899	-1.0354	10	0.87932	D	0	.	7.0933	0.25295	0.0:0.1151:0.0:0.8849	.	215	Q8NGZ4	OR2G3_HUMAN	C	215	ENSP00000326301:S215C	ENSP00000326301:S215C	S	+	2	0	OR2G3	245836154	0.121000	0.22262	0.014000	0.15608	0.098000	0.18820	1.897000	0.39799	0.532000	0.28657	-0.764000	0.03450	TCC	OR2G3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000177476		0.478	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G3	HGNC	protein_coding	OTTHUMT00000097624.1	-	0	38	0	C			247769531	1	tier1	-	no_errors	ENST00000320002	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.016	G	G	247769531	C	G	247769531	3	3	168	1	0	0	0	0	1	0	0	0	11038	855	30	5	646	5	OR2G3	1	247769531	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1996823	247769531	1481090	36	42224											
OR2L8	391190	genome.wustl.edu	37	chr1	248112840	248112840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctttgctgtctaccacatGaaatctgcagaagggaggaa	12	10	10	9	0	3	2	0	1	3	1	3	4	3	4	1	2	3	2	1	2	4	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr1:248112840G>A	ENST00000357191.3	+	1	681	c.681G>A	c.(679-681)atG>atA	p.M227I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M227I(1)		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)			TCTACCACATGAAATCTGCAG	0.448																																																	1	Substitution - Missense(1)	lung(1)											167	115	133					1																	248112840		2203	4300	6503	SO:0001583	missense	0			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.681G>A	1.37:g.248112840G>A	ENSP00000349719:p.Met227Ile		Q6IF03	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M227I	ENST00000357191.3	37	c.681	CCDS31101.1	1	.	.	.	.	.	.	.	.	.	.	.	1.719	-0.497188	0.04291	.	.	ENSG00000196936	ENST00000357191	T	0.00021	9.03	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37715	U	0.001974	T	0.00073	0.0002	N	0.20530	0.585	0.09310	N	1	B	0.22541	0.071	B	0.33690	0.168	T	0.17623	-1.0363	10	0.59425	D	0.04	.	4.185	0.10393	0.0:0.2546:0.4872:0.2582	.	227	Q8NGY9	OR2L8_HUMAN	I	227	ENSP00000349719:M227I	ENSP00000349719:M227I	M	+	3	0	OR2L8	246179463	0.000000	0.05858	0.018000	0.16275	0.096000	0.18686	-2.996000	0.00655	1.010000	0.39314	0.485000	0.47835	ATG	OR2L8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196936		0.448	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	-	0	117	0	G			248112840	1	tier1	-	no_errors	ENST00000357191	ensembl	human	known	74_37	missense	9.38	86	9	SNP	0.004	A	A	248112840	G	A	248112840	3	1	168	1	0	0	0	0	1	0	0	0	11048	1290	45	3	683	3	OR2L8	1	248112840	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	343309	248112840	1137781	37	42225											
CRIM1	51232	genome.wustl.edu	37	chr2	36668613	36668613	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctcagggaagccgggaGagtgctgtgacctctatgag	10	7	15	9	1	2	3	1	2	1	1	2	5	2	4	3	2	3	1	3	2	3	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:36668613G>T	ENST00000280527.2	+	3	1085	c.718G>T	c.(718-720)Gag>Tag	p.E240*		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	240					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)				GAAGCCGGGAGAGTGCTGTGA	0.577																																																	0													81	83	82					2																	36668613		2203	4300	6503	SO:0001587	stop_gained	0			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.718G>T	2.37:g.36668613G>T	ENSP00000280527:p.Glu240*		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Nonsense_Mutation	SNP	pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.E240*	ENST00000280527.2	37	c.718	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.617968	0.98888	.	.	ENSG00000150938	ENST00000280527;ENST00000426856	.	.	.	4.75	4.75	0.60458	.	0.177627	0.48286	D	0.000184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-10.9729	16.944	0.86226	0.0:0.0:1.0:0.0	.	.	.	.	X	240;132	.	ENSP00000280527:E240X	E	+	1	0	CRIM1	36522117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.629000	0.67798	2.468000	0.83385	0.555000	0.69702	GAG	CRIM1	-	NULL	ENSG00000150938		0.577	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	-	0	65	0	G	NM_016441		36668613	1	tier1	-	no_errors	ENST00000280527	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	1.000	T	T	36668613	G	T	36668613	4	4	168	1	0	0	0	0	0	1	0	0	3880	943	33	3	728	3	CRIM1	2	36668613	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09		36668613	206530760	38	42226											
SOS1	6654	genome.wustl.edu	37	chr2	39283972	39283972	+	Silent	SNP	A	A	T	1	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	aagactgctactatgtaaacAgaaacctggtggtcaatttt	14	12	8	7	0	1	2	1	0	0	2	1	2	1	2	1	2	4	2	1	2	7	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:39283972A>T	ENST00000426016.1	-	5	467	c.381T>A	c.(379-381)tcT>tcA	p.S127S	SOS1_ENST00000428721.2_Silent_p.S70S|SOS1_ENST00000402219.2_Silent_p.S127S|SOS1_ENST00000395038.2_Silent_p.S127S			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	127					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)				CTATGTAAACAGAAACCTGGT	0.308									Noonan syndrome																																								0													146	169	161					2																	39283972		2203	4297	6500	SO:0001819	synonymous_variant	0	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.381T>A	2.37:g.39283972A>T			A8K2G3|B4DXG2	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S127	ENST00000426016.1	37	c.381	CCDS1802.1	2																																																																																			SOS1	-	pfam_Histone_core_D,superfamily_Histone-fold	ENSG00000115904		0.308	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	-	0	70	0	A	NM_005633		39283972	-1	tier1	-	no_errors	ENST00000402219	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T	T	39283972	A	T	39283972	2	4	168	1	0	0	0	0	0	0	0	1	14981	175	7	5		5	SOS1	2	39283972	Silent	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	2615359	39283972	203915401	39	42227											
PRKCE	5581	genome.wustl.edu	37	chr2	46228632	46228632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcgccaaagtactggccGacctgggcgttaccccagac	10	6	11	14	3	0	1	0	0	0	1	1	3	0	1	5	2	2	2	5	2	4	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:46228632G>T	ENST00000306156.3	+	7	1240	c.913G>T	c.(913-915)Gac>Tac	p.D305Y	PRKCE_ENST00000394874.1_Missense_Mutation_p.D28Y	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	305					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|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)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	AGTACTGGCCGACCTGGGCGT	0.527																																																	0													88	84	85					2																	46228632		1827	3783	5610	SO:0001583	missense	0				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.913G>T	2.37:g.46228632G>T	ENSP00000306124:p.Asp305Tyr		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.D305Y	ENST00000306156.3	37	c.913	CCDS1824.1	2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720373	0.89205	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.69040	-0.37;0.38	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	N	0.19112	0.55	0.80722	D	1	P	0.51147	0.942	P	0.51055	0.657	T	0.68780	-0.5318	10	0.66056	D	0.02	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	305	Q02156	KPCE_HUMAN	Y	305;28	ENSP00000306124:D305Y;ENSP00000378341:D28Y	ENSP00000306124:D305Y	D	+	1	0	PRKCE	46082136	1.000000	0.71417	0.970000	0.41538	0.646000	0.38490	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	GAC	PRKCE	-	pirsf_Prot_kin_PKC_delta	ENSG00000171132		0.527	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2		0	67	0	G			46228632	1			no_errors	ENST00000306156	ensembl	human	known	74_37	missense	5.68	83	5	SNP	1.000	T	T	46228632	G	T	46228632	3	4	168	1	0	0	0	0	1	0	0	0	12553	1058	37	2	939	2	PRKCE	2	46228632	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	6944660	46228632	196970741	40	42228											
GTF2A1L	11036	genome.wustl.edu	37	chr2	48848395	48848395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttactcttcagttgccGcacagcttgcaccaaacatt	9	13	6	13	1	2	0	1	0	1	0	2	0	2	0	2	0	5	5	2	0	2	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:48848395G>A	ENST00000403751.3	+	3	250	c.213G>A	c.(211-213)ccG>ccA	p.P71P	GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000309827.2_Silent_p.P775P|STON1-GTF2A1L_ENST00000394754.1_Silent_p.P775P|GTF2A1L_ENST00000430487.2_Silent_p.P37P|STON1-GTF2A1L_ENST00000402114.2_Silent_p.P775P|STON1-GTF2A1L_ENST00000405008.1_Silent_p.P775P|STON1-GTF2A1L_ENST00000394751.3_Silent_p.P775P	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	71					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCAGTTGCCGCACAGCTTGC	0.418																																																	0													82	82	82					2																	48848395		2203	4300	6503	SO:0001819	synonymous_variant	0			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"TFIIA alpha/beta like factor"	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.213G>A	2.37:g.48848395G>A			B4DY14|Q53FD9|Q5D050	Silent	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.P775	ENST00000403751.3	37	c.2325	CCDS46281.1	2																																																																																			STON1-GTF2A1L	-	pfam_TFIIA_asu/bsu	ENSG00000068781		0.418	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323852.4	-	0	41	0	G	NM_006872		48848395	1	tier1	-	no_errors	ENST00000309827	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.985	A	A	48848395	G	A	48848395	2	1	168	1	0	0	0	0	0	0	0	1	6880	1074	38	1		1	GTF2A1L	2	48848395	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2619763	48848395	194350978	41	42229											
ASB3	100302652	genome.wustl.edu	37	chr2	53941641	53941641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatgtcccccaaacactGctgagtaaacagggcttact	11	10	7	13	0	1	1	1	1	0	0	2	1	2	1	2	1	4	3	2	1	4	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:53941641G>A	ENST00000263634.3	-	7	994	c.860C>T	c.(859-861)gCa>gTa	p.A287V	ASB3_ENST00000406625.2_Missense_Mutation_p.A322V|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.A214V|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.A214V|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.A325V	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		CCCAAACACTGCTGAGTAAAC	0.458																																																	0													151	145	147					2																	53941641		2203	4300	6503	SO:0001583	missense	0				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.860C>T	2.37:g.53941641G>A	ENSP00000263634:p.Ala287Val			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.A325V	ENST00000263634.3	37	c.974	CCDS1846.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.901922	0.97087	.	.	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	D;D;D;D;D	0.87256	-1.53;-1.53;-2.23;-2.23;-1.53	6.02	6.02	0.97574	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.96144	0.8743	H	0.96460	3.825	0.42578	D	0.993205	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96554	0.9410	9	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	204;322;287	B4DZX6;Q2TAI4;Q9Y575	.;.;ASB3_HUMAN	V	287;322;214;214;325;204	ENSP00000263634:A287V;ENSP00000385085:A322V;ENSP00000384728:A214V;ENSP00000378206:A214V;ENSP00000313756:A325V	ENSP00000263634:A287V	A	-	2	0	ASB3	53795145	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.137000	0.94496	2.865000	0.98341	0.655000	0.94253	GCA	GPR75-ASB3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000115239		0.458	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR75-ASB3	HGNC	protein_coding	OTTHUMT00000251402.3	-	0	112	0	G			53941641	-1	tier1	-	no_errors	ENST00000352846	ensembl	human	known	74_37	missense	5.31	107	6	SNP	1.000	A	A	53941641	G	A	53941641	3	1	168	1	0	0	0	0	1	0	0	0	1025	1319	46	3	712	3	ASB3	2	53941641	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	5093246	53941641	189257732	42	42230											
PSME4	23198	genome.wustl.edu	37	chr2	54152802	54152802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcttgtttgctccaatgtGctactttctataagtccaaa	9	17	5	10	0	2	0	0	0	2	0	5	0	4	0	2	0	3	3	2	0	5	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:54152802G>T	ENST00000404125.1	-	14	1738	c.1683C>A	c.(1681-1683)agC>agA	p.S561R	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	561					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTCCAATGTGCTACTTTCTA	0.363																																																	0													150	125	133					2																	54152802		2203	4300	6503	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1683C>A	2.37:g.54152802G>T	ENSP00000384211:p.Ser561Arg		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.S561R	ENST00000404125.1	37	c.1683	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698597	0.68386	.	.	ENSG00000068878	ENST00000404125	T	0.24908	1.83	5.84	3.07	0.35406	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.19647	-1.0299	10	0.19590	T	0.45	.	9.5886	0.39532	0.268:0.0:0.732:0.0	.	561	Q14997	PSME4_HUMAN	R	561	ENSP00000384211:S561R	ENSP00000384211:S561R	S	-	3	2	PSME4	54006306	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.639000	0.46570	0.378000	0.24764	-0.145000	0.13849	AGC	PSME4	-	superfamily_ARM-type_fold	ENSG00000068878		0.363	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	-	0	74	0	G	XM_040158		54152802	-1	tier1	-	no_errors	ENST00000404125	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	54152802	G	T	54152802	3	4	168	1	0	0	0	0	1	0	0	0	12751	1310	46	3	3980	3	PSME4	2	54152802	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	211161	54152802	189046571	43	42231											
USP34	9736	genome.wustl.edu	37	chr2	61577455	61577455	+	Missense_Mutation	SNP	A	A	T	1	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	tgcaaaagaactctgtttagAtaactgagccttagctgcta	13	12	8	8	0	1	3	0	1	1	2	1	3	1	3	1	0	6	4	1	0	7	5	rs371931763		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:61577455A>T	ENST00000398571.2	-	12	1523	c.1447T>A	c.(1447-1449)Tct>Act	p.S483T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	483					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)			CTCTGTTTAGATAACTGAGCC	0.333																																																	0													100	93	95					2																	61577455		1832	4084	5916	SO:0001583	missense	0			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.1447T>A	2.37:g.61577455A>T	ENSP00000381577:p.Ser483Thr		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.S483T	ENST00000398571.2	37	c.1447	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	A	28.5	4.927177	0.92389	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03920	3.76	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.38531	1.155	0.58432	D	0.999999	P	0.49447	0.924	P	0.60682	0.878	T	0.38607	-0.9653	10	0.15499	T	0.54	.	15.9917	0.80211	1.0:0.0:0.0:0.0	.	483	Q70CQ2	UBP34_HUMAN	T	331;331;483	ENSP00000381577:S483T	ENSP00000263989:S331T	S	-	1	0	USP34	61430959	1.000000	0.71417	0.921000	0.36526	0.990000	0.78478	9.287000	0.95975	2.222000	0.72286	0.533000	0.62120	TCT	USP34	-	NULL	ENSG00000115464		0.333	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4		0	73	0	A			61577455	-1			no_errors	ENST00000398571	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.999	T	T	61577455	A	T	61577455	3	4	168	1	0	0	0	0	1	0	0	0	17114	333	12	5	9469	5	USP34	2	61577455	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	7424653	61577455	181621918	44	42232											
C2orf89	129293	genome.wustl.edu	37	chr2	85051238	85051238	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtgccctgaggatacGgcttctggtgccggtacttc	5	12	14	10	2	1	2	0	2	1	0	2	3	1	3	2	4	4	3	2	4	2	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:85051238G>A	ENST00000409520.2	-	6	1215	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000335459.5_Silent_p.A342A	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	391					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CTGAGGATACGGCTTCTGGTG	0.597																																																	0													49	59	56					2																	85051238		2188	4294	6482	SO:0001819	synonymous_variant	0			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1173C>T	2.37:g.85051238G>A			B4DKK8|I6UMB9	Silent	SNP	NULL	p.A391	ENST00000409520.2	37	c.1173		2																																																																																			TRABD2A	-	NULL	ENSG00000186854		0.597	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	TRABD2A	HGNC	protein_coding		-	0	70	0	G	NM_001080824		85051238	-1	tier1	-	no_errors	ENST00000409520	ensembl	human	known	74_37	silent	32.05	53	25	SNP	0.011	A	A	85051238	G	A	85051238	2	1	168	1	0	0	0	0	0	0	0	1	2210	1103	39	1		1	C2orf89	2	85051238	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	23473783	85051238	158148135	45	42233											
KIAA1310	55683	genome.wustl.edu	37	chr2	97271233	97271233	+	Missense_Mutation	SNP	T	T	A	0	1	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	tctctccttcctctggtggtTctgatgaaatgggaactaag	8	14	10	9	0	3	2	0	2	3	0	6	3	5	3	2	3	1	1	2	3	3	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:97271233T>A	ENST00000431828.1	-	15	1833	c.1757A>T	c.(1756-1758)gAa>gTa	p.E586V	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.E406V|KANSL3_ENST00000441706.2_Missense_Mutation_p.E499V|KANSL3_ENST00000599854.1_Missense_Mutation_p.E499V			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	612					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)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTCTGGTGGTTCTGATGAAAT	0.498																																																	0													101	100	101					2																	97271233		1978	4164	6142	SO:0001583	missense	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1757A>T	2.37:g.97271233T>A	ENSP00000396749:p.Glu586Val		A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	NULL	p.E586V	ENST00000431828.1	37	c.1757	CCDS46361.1	2	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085815	0.55861	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759	T;T	0.50548	0.74;0.77	5.89	5.89	0.94794	.	0.114991	0.64402	D	0.000016	T	0.35008	0.0917	N	0.19112	0.55	0.80722	D	1	B;P;B;P	0.45176	0.18;0.693;0.275;0.852	B;B;B;B	0.40636	0.075;0.335;0.101;0.335	T	0.15122	-1.0448	10	0.35671	T	0.21	.	14.2679	0.66133	0.0:0.0:0.0:1.0	.	380;586;499;474	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	V	499;474;586;499;406;380	ENSP00000396749:E586V;ENSP00000406207:E406V	ENSP00000346144:E499V	E	-	2	0	KIAA1310	96634960	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.449000	0.66619	2.254000	0.74563	0.533000	0.62120	GAA	KANSL3	-	NULL	ENSG00000114982		0.498	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	-	0	60	0	T	NM_017991		97271233	-1	tier1	-	no_errors	ENST00000431828	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	A	A	97271233	T	A	97271233	3	1	168	1	0	0	0	0	1	0	0	0	8249	1783	62	5	907	5	KIAA1310	2	97271233	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	12219995	97271233	145928140	46	42234											
REV1	51455	genome.wustl.edu	37	chr2	100019466	100019466	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttaagcagcttgttattCaaaggactctgaatcctttt	10	16	7	8	0	2	1	1	1	1	0	3	2	3	2	1	1	2	4	1	1	4	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:100019466C>G	ENST00000258428.3	-	20	3498	c.3270G>C	c.(3268-3270)ttG>ttC	p.L1090F	REV1_ENST00000465835.1_5'Flank|REV1_ENST00000393445.3_Missense_Mutation_p.L1089F|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1090					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						GCTTGTTATTCAAAGGACTCT	0.408								Direct reversal of damage																																									0													98	93	95					2																	100019466		2203	4300	6503	SO:0001583	missense	0			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.3270G>C	2.37:g.100019466C>G	ENSP00000258428:p.Leu1090Phe		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.L1090F	ENST00000258428.3	37	c.3270	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659192	0.67586	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.29917	1.55;1.55	5.86	5.86	0.93980	.	0.207429	0.42420	D	0.000714	T	0.49236	0.1545	M	0.72118	2.19	0.46823	D	0.999211	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.983	T	0.40942	-0.9536	10	0.10636	T	0.68	.	11.4625	0.50219	0.0:0.861:0.0:0.139	.	1090;1089	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	F	1089;1090	ENSP00000377091:L1089F;ENSP00000258428:L1090F	ENSP00000258428:L1090F	L	-	3	2	REV1	99385898	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.477000	0.35431	2.773000	0.95371	0.655000	0.94253	TTG	REV1	-	pirsf_REV1	ENSG00000135945		0.408	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	-	0	43	0	C	NM_016316		100019466	-1	tier1	-	no_errors	ENST00000258428	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	G	G	100019466	C	G	100019466	3	3	168	1	0	0	0	0	1	0	0	0	13284	825	29	5	501	5	REV1	2	100019466	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	2748233	100019466	143179907	47	42235											
GPR17	2840	genome.wustl.edu	37	chr2	128408503	128408503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccacaagtccgggacccCggccaacgtgttcctgatgc	9	6	11	15	3	0	2	0	1	0	1	2	3	2	3	6	2	2	1	6	2	2	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:128408503C>A	ENST00000272644.3	+	3	352	c.278C>A	c.(277-279)cCg>cAg	p.P93Q	LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.P93Q|GPR17_ENST00000393018.3_Missense_Mutation_p.P93Q|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000410038.1_5'Flank	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	93					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCCGGGACCCCGGCCAACGTG	0.582																																																	0													91	88	89					2																	128408503		2203	4300	6503	SO:0001583	missense	0				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"GPCR / Class A : Orphans"	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.278C>A	2.37:g.128408503C>A	ENSP00000272644:p.Pro93Gln		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.P93Q	ENST00000272644.3	37	c.278	CCDS2148.1	2	.	.	.	.	.	.	.	.	.	.	c	20.6	4.014064	0.75161	.	.	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000423019;ENST00000393018	T;T;T;T	0.50548	1.27;1.27;0.74;1.27	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77525	-0.2555	10	0.40728	T	0.16	.	19.3366	0.94322	0.0:1.0:0.0:0.0	.	93	Q13304	GPR17_HUMAN	Q	93	ENSP00000442982:P93Q;ENSP00000272644:P93Q;ENSP00000387970:P93Q;ENSP00000376741:P93Q	ENSP00000272644:P93Q	P	+	2	0	GPR17	128124973	1.000000	0.71417	0.956000	0.39512	0.854000	0.48673	7.791000	0.85805	2.573000	0.86826	0.655000	0.94253	CCG	GPR17	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000144230		0.582	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR17	HGNC	protein_coding	OTTHUMT00000254390.1		0	36	0	C			128408503	1			no_errors	ENST00000272644	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.998	A	A	128408503	C	A	128408503	3	1	168	1	0	0	0	0	1	0	0	0	6693	652	23	2	284	2	GPR17	2	128408503	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	28389037	128408503	114790870	48	42236											
WDR33	55339	genome.wustl.edu	37	chr2	128477915	128477915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtttctgtgcaagtctttCaattttaagttgctggaaag	9	18	9	5	0	3	0	1	0	2	0	3	1	3	1	0	1	2	4	0	1	4	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:128477915C>G	ENST00000322313.4	-	16	1842	c.1684G>C	c.(1684-1686)Gaa>Caa	p.E562Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	562					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)		GCAAGTCTTTCAATTTTAAGT	0.443																																																	0													66	78	74					2																	128477915		2200	4291	6491	SO:0001583	missense	0				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.1684G>C	2.37:g.128477915C>G	ENSP00000325377:p.Glu562Gln		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E562Q	ENST00000322313.4	37	c.1684	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378089	0.61735	.	.	ENSG00000136709	ENST00000322313	D	0.90676	-2.71	5.29	5.29	0.74685	.	0.058326	0.64402	D	0.000002	D	0.88070	0.6338	L	0.29908	0.895	0.80722	D	1	D	0.58268	0.982	P	0.46825	0.528	D	0.87198	0.2239	10	0.32370	T	0.25	-17.2682	18.9222	0.92529	0.0:1.0:0.0:0.0	.	562	Q9C0J8	WDR33_HUMAN	Q	562	ENSP00000325377:E562Q	ENSP00000325377:E562Q	E	-	1	0	WDR33	128194385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.611000	0.67674	2.452000	0.82932	0.585000	0.79938	GAA	WDR33	-	NULL	ENSG00000136709		0.443	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2		0	26	0	C	NM_018383		128477915	-1			no_errors	ENST00000322313	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	G	G	128477915	C	G	128477915	3	3	168	1	0	0	0	0	1	0	0	0	17336	835	29	5	2354	5	WDR33	2	128477915	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	69412	128477915	114721458	49	42237											
MGAT5	4249	genome.wustl.edu	37	chr2	135076308	135076308	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttttatttacctcagtGaggtgagtagctttctgtgg	6	19	10	6	0	2	2	1	2	1	0	2	2	2	2	1	2	2	2	1	2	3	8			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:135076308G>T	ENST00000409645.1	+	5	823	c.571G>T	c.(571-573)Gag>Tag	p.E191*	MGAT5_ENST00000281923.2_Nonsense_Mutation_p.E191*			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	191					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTACCTCAGTGAGGTGAGTAG	0.453																																																	0													133	128	130					2																	135076308		2203	4300	6503	SO:0001587	stop_gained	0			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.571G>T	2.37:g.135076308G>T	ENSP00000386377:p.Glu191*		D3DP70	Nonsense_Mutation	SNP	NULL	p.E191*	ENST00000409645.1	37	c.571	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.345176	0.98224	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.54	5.54	0.83059	.	0.049932	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-29.0599	17.6539	0.88172	0.0:0.0:1.0:0.0	.	.	.	.	X	191	.	ENSP00000281923:E191X	E	+	1	0	MGAT5	134792778	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.609000	0.88269	0.655000	0.94253	GAG	MGAT5	-	NULL	ENSG00000152127		0.453	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	HGNC	protein_coding	OTTHUMT00000254584.3		0	36	0	G	NM_002410		135076308	1			no_errors	ENST00000281923	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	T	T	135076308	G	T	135076308	4	4	168	1	0	0	0	0	0	1	0	0	9586	1291	45	3	585	3	MGAT5	2	135076308	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	6598393	135076308	108123065	50	42238											
SCN1A	6323	genome.wustl.edu	37	chr2	166897845	166897845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagatggtgatggccaggtCaacaaatgggtccatcacaa	14	7	11	9	0	2	2	2	1	0	1	3	2	3	2	2	4	1	0	2	4	3	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:166897845C>T	ENST00000303395.4	-	13	2310	c.2311G>A	c.(2311-2313)Gac>Aac	p.D771N	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.D771N|SCN1A_ENST00000375405.3_Missense_Mutation_p.D760N|SCN1A_ENST00000409050.1_Missense_Mutation_p.D743N|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	771					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)	ATGGCCAGGTCAACAAATGGG	0.383																																																	0													115	108	111					2																	166897845		2203	4300	6503	SO:0001583	missense	0			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.2311G>A	2.37:g.166897845C>T	ENSP00000303540:p.Asp771Asn		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.D771N	ENST00000303395.4	37	c.2311	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.443281	0.96187	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	D	0.99202	0.9723	H	0.95780	3.72	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.929	D;D;P	0.87578	0.998;0.994;0.482	D	0.99056	1.0829	10	0.87932	D	0	.	19.8328	0.96642	0.0:1.0:0.0:0.0	.	760;743;771	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	N	771;771;760;743	ENSP00000407030:D771N;ENSP00000303540:D771N;ENSP00000364554:D760N;ENSP00000386312:D743N	ENSP00000303540:D771N	D	-	1	0	SCN1A	166606091	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.773000	0.85462	2.758000	0.94735	0.591000	0.81541	GAC	SCN1A	-	NULL	ENSG00000144285		0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0	80	0	C	NM_006920		166897845	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	14.29	78	13	SNP	1.000	T	T	166897845	C	T	166897845	3	4	168	1	0	0	0	0	1	0	0	0	13959	826	29	3	3774	3	SCN1A	2	166897845	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	31821537	166897845	76301528	51	42239											
SCN7A	6332	genome.wustl.edu	37	chr2	167288952	167288952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gactggggataagtgattggCtctcattttcagtagcgttt	8	15	12	6	1	2	1	2	1	1	0	3	3	2	2	0	3	1	3	0	3	2	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:167288952C>A	ENST00000409855.1	-	15	2594	c.2468G>T	c.(2467-2469)aGc>aTc	p.S823I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	823					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AAGTGATTGGCTCTCATTTTC	0.388																																																	0													222	209	213					2																	167288952		1859	4103	5962	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2468G>T	2.37:g.167288952C>A	ENSP00000386796:p.Ser823Ile			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.S823I	ENST00000409855.1	37	c.2468	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	C	6.912	0.537810	0.13188	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.83992	-1.79;-1.79	5.27	-1.29	0.09288	Sodium ion transport-associated (1);	0.674353	0.14632	N	0.307757	T	0.81513	0.4838	M	0.72118	2.19	0.09310	N	1	D	0.55172	0.97	P	0.54815	0.761	T	0.68907	-0.5285	10	0.23891	T	0.37	.	1.222	0.01926	0.1442:0.3608:0.1407:0.3543	.	823	Q01118	SCN7A_HUMAN	I	823	ENSP00000386796:S823I;ENSP00000413699:S823I	ENSP00000259060:S823I	S	-	2	0	SCN7A	166997198	0.000000	0.05858	0.003000	0.11579	0.239000	0.25481	-0.148000	0.10219	-0.120000	0.11809	-1.065000	0.02276	AGC	SCN7A	-	pfam_Na_trans_assoc	ENSG00000136546		0.388	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0	67	0	C			167288952	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	A	A	167288952	C	A	167288952	3	1	168	1	0	0	0	0	1	0	0	0	13968	797	28	3	2624	3	SCN7A	2	167288952	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	391107	167288952	75910421	52	42240											
ADAM23	8745	genome.wustl.edu	37	chr2	207452097	207452097	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatatgcatgcaatcaaaatCaggtatgctgggctataaat	15	11	9	6	0	2	0	2	0	0	0	2	1	2	0	0	2	3	5	0	2	8	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:207452097C>T	ENST00000264377.3	+	19	2114	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	ADAM23_ENST00000374415.3_Nonsense_Mutation_p.Q596*|ADAM23_ENST00000374416.1_Nonsense_Mutation_p.Q596*	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	596	Cys-rich.				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)		CAATCAAAATCAGGTATGCTG	0.299																																					Melanoma(194;1127 2130 19620 24042 27855)												0													66	69	68					2																	207452097		2203	4297	6500	SO:0001587	stop_gained	0			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.1786C>T	2.37:g.207452097C>T	ENSP00000264377:p.Gln596*		A2RU59	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.Q596*	ENST00000264377.3	37	c.1786	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.550554	0.97658	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	.	.	.	5.36	5.36	0.76844	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.4485	0.94857	0.0:1.0:0.0:0.0	.	.	.	.	X	596;596;490;596	.	ENSP00000264377:Q596X	Q	+	1	0	ADAM23	207160342	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.746000	0.74866	2.672000	0.90937	0.591000	0.81541	CAG	ADAM23	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000114948		0.299	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	-	0	221	0	C	NM_003812		207452097	1	tier1	-	no_errors	ENST00000264377	ensembl	human	known	74_37	nonsense	6.75	152	11	SNP	1.000	T	T	207452097	C	T	207452097	4	4	168	1	0	0	0	0	0	1	0	0	245	827	29	3	1860	3	ADAM23	2	207452097	Nonsense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	40163145	207452097	35747276	53	42241											
XRCC5	7520	genome.wustl.edu	37	chr2	217012834	217012834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagagctttacatccccGggagcctctacccccaattc	9	8	7	17	1	1	1	0	0	1	1	3	2	2	2	5	1	4	2	5	1	3	4	rs548351594		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:217012834G>T	ENST00000392133.3	+	16	1966	c.1505G>T	c.(1504-1506)cGg>cTg	p.R502L	XRCC5_ENST00000392132.2_Missense_Mutation_p.R502L			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	502	Pro-rich.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTACATCCCCGGGAGCCTCTA	0.423								Non-homologous end-joining																																									0													100	100	100					2																	217012834		2203	4300	6503	SO:0001583	missense	0			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1505G>T	2.37:g.217012834G>T	ENSP00000375978:p.Arg502Leu		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom	p.R502L	ENST00000392133.3	37	c.1505	CCDS2402.1	2	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129688	0.37630	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.30182	1.54;1.54	5.81	1.93	0.25924	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);Ku70/Ku80 C-terminal arm (2);	0.536654	0.21329	N	0.076324	T	0.13798	0.0334	N	0.08118	0	0.23795	N	0.996823	B	0.06786	0.001	B	0.04013	0.001	T	0.17167	-1.0378	10	0.44086	T	0.13	.	6.4039	0.21654	0.5056:0.0:0.4944:0.0	.	502	P13010	XRCC5_HUMAN	L	502	ENSP00000375978:R502L;ENSP00000375977:R502L	ENSP00000375977:R502L	R	+	2	0	XRCC5	216721079	0.878000	0.30173	0.999000	0.59377	0.991000	0.79684	0.560000	0.23500	0.382000	0.24878	-0.302000	0.09304	CGG	XRCC5	-	pfam_Ku_C,superfamily_SPOC_like_C_dom	ENSG00000079246		0.423	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC5	HGNC	protein_coding	OTTHUMT00000256675.3	-	0	69	0	G	NM_021141		217012834	1	tier1	-	no_errors	ENST00000392132	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.995	T	T	217012834	G	T	217012834	3	4	168	1	0	0	0	0	1	0	0	0	17505	1116	39	2	1559	2	XRCC5	2	217012834	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	9560737	217012834	26186539	54	42242											
DOCK10	55619	genome.wustl.edu	37	chr2	225751206	225751206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcatcttcatggtcaatCtcaaaggaatgtgaaggaag	14	10	10	7	0	5	1	4	1	2	0	6	3	5	3	0	3	1	1	0	3	5	1	rs561976782		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:225751206C>T	ENST00000258390.7	-	5	526	c.459G>A	c.(457-459)gaG>gaA	p.E153E	DOCK10_ENST00000409592.3_Silent_p.E147E	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	153					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)		CATGGTCAATCTCAAAGGAAT	0.318																																																	0													104	99	100					2																	225751206		1854	4079	5933	SO:0001819	synonymous_variant	0			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.459G>A	2.37:g.225751206C>T			B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E153	ENST00000258390.7	37	c.459	CCDS46528.1	2																																																																																			DOCK10	-	pfam_DOCK_C/D_N	ENSG00000135905		0.318	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	-	0	48	0	C			225751206	-1	tier1	-	no_errors	ENST00000258390	ensembl	human	known	74_37	silent	26.92	19	7	SNP	1.000	T	T	225751206	C	T	225751206	2	4	168	1	0	0	0	0	0	0	0	1	4699	912	32	3		3	DOCK10	2	225751206	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	8738372	225751206	17448167	55	42243											
SP140L	93349	genome.wustl.edu	37	chr2	231267563	231267563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggctgaatttgagaaGgatttcaaggaagtgtttgc	11	12	14	4	0	1	2	1	2	0	1	1	6	1	5	0	4	1	2	0	4	4	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr2:231267563G>T	ENST00000415673.2	+	19	1781	c.1695G>T	c.(1693-1695)aaG>aaT	p.K565N	SP140L_ENST00000396563.4_3'UTR|SP140L_ENST00000243810.6_3'UTR	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	565						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AATTTGAGAAGGATTTCAAGG	0.393																																																	0													155	143	147					2																	231267563		1862	4104	5966	SO:0001583	missense	0			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1695G>T	2.37:g.231267563G>T	ENSP00000397911:p.Lys565Asn		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.K565N	ENST00000415673.2	37	c.1695	CCDS46538.1	2	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897997	0.33535	.	.	ENSG00000185404	ENST00000415673	T	0.46451	0.87	2.79	1.9	0.25705	.	.	.	.	.	T	0.32971	0.0847	L	0.41492	1.28	0.58432	D	0.999999	P	0.36110	0.537	B	0.40165	0.321	T	0.09751	-1.0660	9	0.48119	T	0.1	.	5.5812	0.17250	0.1565:0.0:0.8435:0.0	.	565	Q9H930-4	.	N	565	ENSP00000397911:K565N	ENSP00000397911:K565N	K	+	3	2	SP140L	230975807	1.000000	0.71417	0.897000	0.35233	0.605000	0.37080	0.873000	0.28052	0.727000	0.32360	0.305000	0.20034	AAG	SP140L	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000185404		0.393	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SP140L	HGNC	protein_coding	OTTHUMT00000374538.1		0	126	0	G	NM_138402		231267563	1			no_errors	ENST00000415673	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.932	T	T	231267563	G	T	231267563	3	4	168	1	0	0	0	0	1	0	0	0	15008	991	35	3	1769	3	SP140L	2	231267563	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	5516357	231267563	11931810	56	42244											
LRRN1	57633	genome.wustl.edu	37	chr3	3886578	3886578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttacagagcaataacatcGcaaagactgtggatgagctg	14	9	10	8	1	1	3	0	1	1	2	2	4	1	4	0	1	4	3	0	1	4	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:3886578G>A	ENST00000319331.3	+	2	1014	c.253G>A	c.(253-255)Gca>Aca	p.A85T	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	85						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)		CAATAACATCGCAAAGACTGT	0.448																																																	0													85	80	82					3																	3886578		2203	4300	6503	SO:0001583	missense	0			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.253G>A	3.37:g.3886578G>A	ENSP00000314901:p.Ala85Thr		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A85T	ENST00000319331.3	37	c.253	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550970	0.65311	.	.	ENSG00000175928	ENST00000319331	T	0.21932	1.98	5.76	5.76	0.90799	.	0.165141	0.52532	D	0.000069	T	0.11110	0.0271	N	0.05078	-0.115	0.50039	D	0.999848	P	0.36144	0.539	B	0.22753	0.041	T	0.16070	-1.0415	10	0.35671	T	0.21	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	85	Q6UXK5	LRRN1_HUMAN	T	85	ENSP00000314901:A85T	ENSP00000314901:A85T	A	+	1	0	LRRN1	3861578	1.000000	0.71417	0.594000	0.28785	0.934000	0.57294	5.571000	0.67404	2.713000	0.92767	0.655000	0.94253	GCA	LRRN1	-	NULL	ENSG00000175928		0.448	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	-	0	44	0	G	NM_020873		3886578	1	tier1	-	no_errors	ENST00000319331	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.999	A	A	3886578	G	A	3886578	3	1	168	1	0	0	0	0	1	0	0	0	9069	1087	38	1	255	1	LRRN1	3	3886578	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09		3886578	194135852	57	42245											
TGFBR2	7048	genome.wustl.edu	37	chr3	30691872	30691872	+	Frame_Shift_Del	DEL	A	A	-																															tccaaagtgcattatgaaggAaaaaaaaaagcctggtgaga																								rs79375991		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:30691872delA	ENST00000295754.5	+	3	756	c.374delA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|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 II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATTATGAAGGAAAAAAAAAAG	0.423																																																	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)											89	92	91					3																	30691872		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.374delA	3.37:g.30691872delA	ENSP00000295754:p.Glu125fs		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.K153fs	ENST00000295754.5	37	c.449	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor	ENSG00000163513		0.423	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2		0	49	0	A			30691872	1	tier1		no_errors	ENST00000359013	ensembl	human	known	74_37	frame_shift_del	8.33	33	3	DEL	1.000	-	-	30691872	A	-	30691872	7	5	168	1	0	1	0	1	0	0	0	0	15869	246	9	0	463	0	TGFBR2	3	30691872	Frame_Shift_Del	DEL	A	TCGA-VR-A8EX-01A-11D-A36J-09	26805294	30691872	167330558	58	42246											
GLB1	2720	genome.wustl.edu	37	chr3	33065806	33065806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagggataggaccttctggTactttttcaaactataaacc	12	12	9	8	0	2	0	1	0	1	0	2	3	2	3	2	4	3	1	2	4	6	7			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:33065806T>C	ENST00000399402.3	-	11	1121	c.990A>G	c.(988-990)gtA>gtG	p.V330V	GLB1_ENST00000307363.5_Silent_p.V360V|GLB1_ENST00000307377.8_Silent_p.V229V|GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Silent_p.V408V	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	360					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GACCTTCTGGTACTTTTTCAA	0.308																																																	0													45	41	42					3																	33065806		1794	4058	5852	SO:0001819	synonymous_variant	0			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.990A>G	3.37:g.33065806T>C			B2R7H8|B7Z6B0|P16279	Silent	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.V408	ENST00000399402.3	37	c.1224	CCDS43062.1	3																																																																																			GLB1	-	superfamily_Glycoside_hydrolase_SF	ENSG00000170266		0.308	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	HGNC	protein_coding	OTTHUMT00000341570.2	-	0	41	0	T	NM_000404		33065806	-1	tier1	-	no_errors	ENST00000445488	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.973	C	C	33065806	T	C	33065806	2	2	168	1	0	0	0	0	0	0	0	1	6453	1625	57	4		4	GLB1	3	33065806	Silent	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	2373934	33065806	164956624	59	42247											
PTH1R	5745	genome.wustl.edu	37	chr3	46939887	46939887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaggtgtttgaccgcctggGcatgatttacaccgtgggct	6	11	15	9	2	0	2	0	2	0	0	0	3	0	3	3	4	1	3	3	4	1	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:46939887G>A	ENST00000313049.5	+	6	766	c.563G>A	c.(562-564)gGc>gAc	p.G188D	PTH1R_ENST00000430002.2_Missense_Mutation_p.G188D|PTH1R_ENST00000449590.1_Missense_Mutation_p.G188D|PTH1R_ENST00000418619.1_Missense_Mutation_p.G188D|PTH1R_ENST00000490109.1_3'UTR			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	188					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)	GACCGCCTGGGCATGATTTAC	0.652																																																	0													73	70	71					3																	46939887		2203	4300	6503	SO:0001583	missense	0				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.563G>A	3.37:g.46939887G>A	ENSP00000321999:p.Gly188Asp		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.G188D	ENST00000313049.5	37	c.563	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	G	11.93	1.787136	0.31593	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	4.9	3.09	0.35607	GPCR, family 2-like (1);	.	.	.	.	T	0.19406	0.0466	N	0.04508	-0.205	0.33863	D	0.634017	B	0.12013	0.005	B	0.15052	0.012	T	0.17410	-1.0370	9	0.28530	T	0.3	.	7.56	0.27845	0.2717:0.0:0.7283:0.0	.	188	Q03431	PTH1R_HUMAN	D	188;188;188;188;188;323	ENSP00000402723:G188D;ENSP00000411424:G188D;ENSP00000400977:G188D;ENSP00000413774:G188D;ENSP00000321999:G188D	ENSP00000321999:G188D	G	+	2	0	PTH1R	46914891	0.975000	0.34042	1.000000	0.80357	0.995000	0.86356	4.039000	0.57325	1.056000	0.40484	0.462000	0.41574	GGC	PTH1R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_parathyroid_rcpt	ENSG00000160801		0.652	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1	-	0	76	0	G	NM_000316		46939887	1	tier1	-	no_errors	ENST00000313049	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.995	A	A	46939887	G	A	46939887	3	1	168	1	0	0	0	0	1	0	0	0	12801	1203	42	3	585	3	PTH1R	3	46939887	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	13874081	46939887	151082543	60	42248											
MAP4	4134	genome.wustl.edu	37	chr3	47958058	47958058	+	Missense_Mutation	SNP	T	T	C	0	1	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	atgatataatgtcattagccTgtgccacctctatttctgag	10	15	7	9	0	3	2	1	2	2	0	3	2	3	2	3	0	2	0	3	0	4	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:47958058T>C	ENST00000360240.6	-	7	1777	c.1259A>G	c.(1258-1260)cAg>cGg	p.Q420R	MAP4_ENST00000426837.2_Missense_Mutation_p.Q437R|MAP4_ENST00000395734.3_Missense_Mutation_p.Q420R|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	420	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GTCATTAGCCTGTGCCACCTC	0.478																																																	0													137	124	129					3																	47958058		2203	4300	6503	SO:0001583	missense	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1259A>G	3.37:g.47958058T>C	ENSP00000353375:p.Gln420Arg		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_MAP_tubulin-bd_rpt	p.Q420R	ENST00000360240.6	37	c.1259	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	T	7.061	0.566373	0.13560	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.06687	3.29;3.27;3.29	4.73	2.16	0.27623	.	.	.	.	.	T	0.04770	0.0129	N	0.14661	0.345	0.09310	N	1	P;P;P	0.35982	0.531;0.472;0.531	B;B;B	0.33960	0.124;0.173;0.124	T	0.39583	-0.9607	9	0.38643	T	0.18	0.16	6.9341	0.24457	0.6038:0.0:0.0:0.3962	.	397;420;420	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	R	420;437;420	ENSP00000379083:Q420R;ENSP00000407602:Q437R;ENSP00000353375:Q420R	ENSP00000353375:Q420R	Q	-	2	0	MAP4	47933062	0.105000	0.21958	0.006000	0.13384	0.003000	0.03518	1.783000	0.38664	0.923000	0.37045	-0.527000	0.04329	CAG	MAP4	-	NULL	ENSG00000047849		0.478	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1		0	36	0	T	NM_002375		47958058	-1			no_errors	ENST00000360240	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.005	C	C	47958058	T	C	47958058	3	2	168	1	0	0	0	0	1	0	0	0	9296	1580	55	4	3610	4	MAP4	3	47958058	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	1018171	47958058	150064372	61	42249											
LRTM1	57408	genome.wustl.edu	37	chr3	54958911	54958911	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggaaaagtctgctttcCagggaaaggagtgaattctg	13	10	13	5	0	2	1	0	1	2	0	3	5	3	4	1	3	1	1	1	3	5	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:54958911C>T	ENST00000273286.5	-	2	501	c.339G>A	c.(337-339)ctG>ctA	p.L113L	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Silent_p.L37L|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	113						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)		GTCTGCTTTCCAGGGAAAGGA	0.478																																																	0													65	65	65					3																	54958911		2203	4300	6503	SO:0001819	synonymous_variant	0			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.339G>A	3.37:g.54958911C>T			Q8IUU2	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L113	ENST00000273286.5	37	c.339	CCDS2876.1	3																																																																																			LRTM1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000144771		0.478	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0	43	0	C	NM_020678		54958911	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	silent	31.03	20	9	SNP	1.000	T	T	54958911	C	T	54958911	2	4	168	1	0	0	0	0	0	0	0	1	9079	581	21	3		3	LRTM1	3	54958911	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	7000853	54958911	143063519	62	42250											
EPHA6	285220	genome.wustl.edu	37	chr3	96962952	96962952	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	caccagccagtgtgaggactGtggtggaggactccgcttca	8	8	14	11	1	1	1	1	1	0	0	2	4	2	4	3	4	1	1	3	4	0	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:96962952G>T	ENST00000389672.5	+	5	1465	c.1427G>T	c.(1426-1428)tGt>tTt	p.C476F	EPHA6_ENST00000470610.2_Missense_Mutation_p.C476F	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	382	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					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						TGTGAGGACTGTGGTGGAGGA	0.458																																																	0													96	102	100					3																	96962952		2036	4173	6209	SO:0001583	missense	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1427G>T	3.37:g.96962952G>T	ENSP00000374323:p.Cys476Phe		D6RAL5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C476F	ENST00000389672.5	37	c.1427	CCDS46876.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475764	0.84640	.	.	ENSG00000080224	ENST00000470610;ENST00000389672	D;D	0.98937	-5.25;-5.25	5.68	5.68	0.88126	.	.	.	.	.	D	0.99414	0.9793	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98732	1.0713	9	0.87932	D	0	.	19.7917	0.96461	0.0:0.0:1.0:0.0	.	476;476	B3KS12;E7EU71	.;.	F	476	ENSP00000420598:C476F;ENSP00000374323:C476F	ENSP00000374323:C476F	C	+	2	0	EPHA6	98445642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.459000	0.97638	2.685000	0.91497	0.650000	0.86243	TGT	EPHA6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080224		0.458	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000353845.3		0	95	0	G	NM_001080448		96962952	1			no_errors	ENST00000389672	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	96962952	G	T	96962952	3	4	168	1	0	0	0	0	1	0	0	0	5187	1377	48	3	1445	3	EPHA6	3	96962952	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	42004041	96962952	101059478	63	42251											
OR5H14	403273	genome.wustl.edu	37	chr3	97869132	97869132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaagtaatagcttcattCacaaaaatgttcaaaagaaa	21	9	5	6	0	3	1	3	0	0	1	3	1	3	1	0	0	2	4	0	0	9	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:97869132C>A	ENST00000437310.1	+	1	963	c.903C>A	c.(901-903)ttC>ttA	p.F301L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F301L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TAGCTTCATTCACAAAAATGT	0.303																																																	1	Substitution - Missense(1)	lung(1)											32	32	32					3																	97869132		2200	4294	6494	SO:0001583	missense	0				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.903C>A	3.37:g.97869132C>A	ENSP00000401706:p.Phe301Leu		B9EH15	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F301L	ENST00000437310.1	37	c.903	CCDS33798.1	3	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.976770	0.00452	.	.	ENSG00000236032	ENST00000437310	T	0.34072	1.38	2.49	0.4	0.16331	.	0.759301	0.10760	N	0.637227	T	0.09158	0.0226	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33292	-0.9874	10	0.02654	T	1	.	3.3188	0.07043	0.2922:0.2288:0.479:0.0	.	301	A6NHG9	O5H14_HUMAN	L	301	ENSP00000401706:F301L	ENSP00000401706:F301L	F	+	3	2	OR5H14	99351822	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-1.282000	0.02799	-0.070000	0.12908	0.195000	0.17529	TTC	OR5H14	-	NULL	ENSG00000236032		0.303	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H14	HGNC	protein_coding	OTTHUMT00000359112.1	-	0	59	0	C			97869132	1	tier1	-	no_errors	ENST00000437310	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.001	A	A	97869132	C	A	97869132	3	1	168	1	0	0	0	0	1	0	0	0	11199	825	29	3	905	3	OR5H14	3	97869132	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	906180	97869132	100153298	64	42252											
OR5H2	79310	genome.wustl.edu	37	chr3	98002652	98002652	+	Silent	SNP	A	A	G	1	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	caagtaatagattcattcacAaaaatggtaaaaagaaatgt	21	10	6	4	0	2	2	2	0	0	2	2	2	2	2	0	1	0	2	0	1	9	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:98002652A>G	ENST00000355273.2	+	1	921	c.921A>G	c.(919-921)acA>acG	p.T307T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	307						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						ATTCATTCACAAAAATGGTAA	0.284																																																	0													23	24	23					3																	98002652		2181	4277	6458	SO:0001819	synonymous_variant	0				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.921A>G	3.37:g.98002652A>G			Q6IF87	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T307	ENST00000355273.2	37	c.921	CCDS33801.1	3																																																																																			OR5H2	-	NULL	ENSG00000197938		0.284	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H2	HGNC	protein_coding	OTTHUMT00000359113.2	-	0	24	0	A			98002652	1	tier1	-	no_errors	ENST00000355273	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.046	G	G	98002652	A	G	98002652	2	3	168	1	0	0	0	0	0	0	0	1	11201	117	5	4		4	OR5H2	3	98002652	Silent	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	133520	98002652	100019778	65	42253											
NAA50	80218	genome.wustl.edu	37	chr3	113440608	113440608	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttcatttgtaatttgttCagttgtctgtcttttgcaca	8	20	7	6	0	4	0	2	0	2	0	4	0	4	0	0	0	1	5	0	0	2	8			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:113440608C>T	ENST00000240922.3	-	5	833	c.509G>A	c.(508-510)tGa>tAa	p.*170*	NAA50_ENST00000497525.1_Silent_p.*96*|NAA50_ENST00000477813.1_Silent_p.*130*|NAA50_ENST00000467022.1_5'Flank|NAA50_ENST00000493454.1_Silent_p.*96*|NAA50_ENST00000497255.1_Silent_p.*59*|NAA50_ENST00000493900.1_Silent_p.*169*	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN	N(alpha)-acetyltransferase 50, NatE catalytic subunit	0					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						GTAATTTGTTCAGTTGTCTGT	0.418																																																	0													127	121	123					3																	113440608		2203	4300	6503	SO:0001819	synonymous_variant	0			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.509G>A	3.37:g.113440608C>T			D3DN74|Q68DQ1	Silent	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.*170	ENST00000240922.3	37	c.509	CCDS2975.1	3																																																																																			NAA50	-	NULL	ENSG00000121579		0.418	NAA50-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA50	HGNC	protein_coding	OTTHUMT00000354446.2	-	0	98	0	C	NM_025146		113440608	-1	tier1	-	no_errors	ENST00000240922	ensembl	human	known	74_37	silent	13.48	77	12	SNP	1.000	T	T	113440608	C	T	113440608	2	4	168	1	0	0	0	0	0	0	0	1	10164	837	29	3		3	NAA50	3	113440608	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	15437956	113440608	84581822	66	42254											
STXBP5L	9515	genome.wustl.edu	37	chr3	120760584	120760584	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattgctattgccaacatGaaagtggtgcagctgtccta	10	13	10	8	0	0	2	0	2	0	0	1	2	1	2	2	1	5	3	2	1	4	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:120760584G>T	ENST00000273666.6	+	4	596	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.E109*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.E109*|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.E109*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.E109*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	109					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)		TTGCCAACATGAAAGTGGTGC	0.368																																																	0													144	131	135					3																	120760584		1841	4099	5940	SO:0001587	stop_gained	0			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.325G>T	3.37:g.120760584G>T	ENSP00000273666:p.Glu109*		Q4G1B4|Q6PIC3	Nonsense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.E109*	ENST00000273666.6	37	c.325	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303173	0.81136	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-6.1294	17.7423	0.88410	0.0:0.0:1.0:0.0	.	.	.	.	X	109	.	ENSP00000273666:E109X	E	+	1	0	STXBP5L	122243274	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.287000	0.89918	2.423000	0.82170	0.557000	0.71058	GAA	STXBP5L	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000145087		0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	-	0	57	0	G			120760584	1	tier1	-	no_errors	ENST00000273666	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	1.000	T	T	120760584	G	T	120760584	4	4	168	1	0	0	0	0	0	1	0	0	15404	1291	45	3	335	3	STXBP5L	3	120760584	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	7319976	120760584	77261846	67	42255											
CASR	846	genome.wustl.edu	37	chr3	121980495	121980495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatcatcgagtatttcCgctggaactgggtgggcaca	10	9	12	10	2	1	1	1	0	0	1	3	3	2	2	1	3	1	3	1	3	2	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:121980495C>T	ENST00000490131.1	+	4	985	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	CASR_ENST00000296154.5_Missense_Mutation_p.R205C|CASR_ENST00000498619.1_Missense_Mutation_p.R205C	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	205					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGAGTATTTCCGCTGGAACTG	0.522																																																	0													122	129	126					3																	121980495		2203	4300	6503	SO:0001583	missense	0			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.613C>T	3.37:g.121980495C>T	ENSP00000418685:p.Arg205Cys		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.R205C	ENST00000490131.1	37	c.613	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610662	0.66558	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.86562	-2.14;-2.14;-2.14	6.08	5.18	0.71444	Extracellular ligand-binding receptor (1);	0.217757	0.52532	D	0.000076	D	0.88757	0.6523	L	0.39898	1.24	0.48762	D	0.999708	D;D	0.76494	0.998;0.999	P;P	0.57679	0.761;0.825	D	0.89235	0.3580	10	0.66056	D	0.02	.	15.9638	0.79950	0.135:0.865:0.0:0.0	.	205;205	E7ENE0;P41180	.;CASR_HUMAN	C	205	ENSP00000418685:R205C;ENSP00000420194:R205C;ENSP00000296154:R205C	ENSP00000296154:R205C	R	+	1	0	CASR	123463185	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.541000	0.45735	2.894000	0.99253	0.591000	0.81541	CGC	CASR	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000036828		0.522	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	-	0	29	0	C	NM_000388		121980495	1	tier1	-	no_errors	ENST00000498619	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T	T	121980495	C	T	121980495	3	4	168	1	0	0	0	0	1	0	0	0	2689	652	23	1	623	1	CASR	3	121980495	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1219911	121980495	76041935	68	42256											
UROC1	131669	genome.wustl.edu	37	chr3	126224599	126224599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	cggccttggcctgagccccaCtcattccgccgagcccagag	6	6	11	18	3	1	2	1	1	0	1	2	3	2	2	7	2	2	0	7	2	0	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:126224599C>T	ENST00000290868.2	-	8	811	c.758G>A	c.(757-759)aGt>aAt	p.S253N	UROC1_ENST00000383579.3_Missense_Mutation_p.S253N	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	253					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)		CTGAGCCCCACTCATTCCGCC	0.632																																																	0													75	64	68					3																	126224599		2203	4300	6503	SO:0001583	missense	0			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.758G>A	3.37:g.126224599C>T	ENSP00000290868:p.Ser253Asn		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase	p.S253N	ENST00000290868.2	37	c.758	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	c	27.5	4.837260	0.91117	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.51071	0.72;0.72	4.55	4.55	0.56014	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	H	0.95917	3.74	0.54753	D	0.999982	D;D	0.89917	0.991;1.0	D;D	0.97110	0.988;1.0	D	0.85708	0.1317	10	0.87932	D	0	-13.922	14.7982	0.69894	0.0:1.0:0.0:0.0	.	253;253	E9PE13;Q96N76	.;HUTU_HUMAN	N	253	ENSP00000290868:S253N;ENSP00000373073:S253N	ENSP00000290868:S253N	S	-	2	0	UROC1	127707289	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.001000	0.76297	2.070000	0.61991	0.574000	0.79327	AGT	UROC1	-	pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase	ENSG00000159650		0.632	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	-	0	115	0	C	NM_144639		126224599	-1	tier1	-	no_errors	ENST00000290868	ensembl	human	known	74_37	missense	8.74	94	9	SNP	1.000	T	T	126224599	C	T	126224599	3	4	168	1	0	0	0	0	1	0	0	0	17077	565	20	3	1508	3	UROC1	3	126224599	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	4244104	126224599	71797831	69	42257											
CLSTN2	64084	genome.wustl.edu	37	chr3	140265422	140265422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggccagtctcaccatcCgccctggcaaaatggaaagc	10	6	10	15	1	1	0	1	0	1	0	3	1	2	1	5	3	1	1	5	3	3	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:140265422C>T	ENST00000458420.3	+	10	1763	c.1573C>T	c.(1573-1575)Cgc>Tgc	p.R525C		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	525					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCTCACCATCCGCCCTGGCAA	0.498										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													60	57	58					3																	140265422		2203	4300	6503	SO:0001583	missense	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1573C>T	3.37:g.140265422C>T	ENSP00000402460:p.Arg525Cys		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R525C	ENST00000458420.3	37	c.1573	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523699	0.85600	.	.	ENSG00000158258	ENST00000458420	T	0.02216	4.39	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.12390	0.0301	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00542	-1.1680	9	.	.	.	-13.5529	16.2435	0.82429	0.0:1.0:0.0:0.0	.	525	Q9H4D0	CSTN2_HUMAN	C	525	ENSP00000402460:R525C	.	R	+	1	0	CLSTN2	141748112	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.487000	0.81328	2.420000	0.82092	0.455000	0.32223	CGC	CLSTN2	-	superfamily_ConA-like_lec_gl_sf	ENSG00000158258		0.498	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	-	0	72	0	C	NM_022131		140265422	1	tier1	-	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	18.64	48	11	SNP	1.000	T	T	140265422	C	T	140265422	3	4	168	1	0	0	0	0	1	0	0	0	3569	652	23	1	1611	1	CLSTN2	3	140265422	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	14040823	140265422	57757008	70	42258											
SGEF	26084	genome.wustl.edu	37	chr3	153935706	153935706	+	Missense_Mutation	SNP	A	A	T	1	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	ggaagatggaaaggactgagAtgatgtacacaattaactcc	16	8	11	6	0	0	3	0	2	0	2	1	7	1	6	1	3	2	1	1	3	5	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:153935706A>T	ENST00000356448.4	+	10	2178	c.1894A>T	c.(1894-1896)Atg>Ttg	p.M632L	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.M632L|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	632					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAGGACTGAGATGATGTACAC	0.423																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)												0													110	105	106					3																	153935706		1860	4104	5964	SO:0001583	missense	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1894A>T	3.37:g.153935706A>T	ENSP00000348828:p.Met632Leu		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.M632L	ENST00000356448.4	37	c.1894	CCDS46938.1	3	.	.	.	.	.	.	.	.	.	.	A	18.98	3.738658	0.69304	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.28069	1.63;1.63	5.05	5.05	0.67936	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	L	0.36672	1.1	0.80722	D	1	P;D	0.53745	0.799;0.962	B;P	0.49012	0.227;0.598	T	0.05971	-1.0853	10	0.45353	T	0.12	-39.1808	15.1025	0.72292	1.0:0.0:0.0:0.0	.	632;632	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	L	632	ENSP00000348828:M632L;ENSP00000423418:M632L	ENSP00000348828:M632L	M	+	1	0	ARHGEF26	155418396	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.584000	0.74057	2.026000	0.59711	0.533000	0.62120	ATG	ARHGEF26	-	superfamily_DH-domain	ENSG00000114790		0.423	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	HGNC	protein_coding	OTTHUMT00000353287.3	-	0	89	0	A	NM_015595		153935706	1	tier1	-	no_errors	ENST00000356448	ensembl	human	known	74_37	missense	6.86	94	7	SNP	1.000	T	T	153935706	A	T	153935706	3	4	168	1	0	0	0	0	1	0	0	0	14250	333	12	5	1928	5	SGEF	3	153935706	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	13670284	153935706	44086724	71	42259											
YEATS2	55689	genome.wustl.edu	37	chr3	183439839	183439839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagcacaatgacttcttatCtgacaaagataataacagca	17	10	5	9	0	3	3	1	2	2	1	3	3	3	3	0	0	3	2	0	0	5	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:183439839C>G	ENST00000305135.5	+	5	647	c.452C>G	c.(451-453)tCt>tGt	p.S151C		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	151					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)			GACTTCTTATCTGACAAAGAT	0.408																																																	0													115	106	109					3																	183439839		1912	4136	6048	SO:0001583	missense	0			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.452C>G	3.37:g.183439839C>G	ENSP00000306983:p.Ser151Cys		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S151C	ENST00000305135.5	37	c.452	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437619	0.62955	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.54479	0.57	5.69	5.69	0.88448	.	0.456893	0.20679	N	0.087699	T	0.51432	0.1674	L	0.47716	1.5	0.27956	N	0.936958	D	0.54601	0.967	P	0.46718	0.525	T	0.55866	-0.8073	10	0.72032	D	0.01	-11.0762	11.7239	0.51698	0.0:0.9127:0.0:0.0873	.	151	Q9ULM3	YETS2_HUMAN	C	151	ENSP00000306983:S151C	ENSP00000306983:S151C	S	+	2	0	YEATS2	184922533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.189000	0.42621	2.702000	0.92279	0.591000	0.81541	TCT	YEATS2	-	NULL	ENSG00000163872		0.408	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	-	0	52	0	C	NM_018023		183439839	1	tier1	-	no_errors	ENST00000305135	ensembl	human	known	74_37	missense	17.33	61	13	SNP	1.000	G	G	183439839	C	G	183439839	3	3	168	1	0	0	0	0	1	0	0	0	17521	913	32	5	466	5	YEATS2	3	183439839	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	29504133	183439839	14582591	72	42260											
OPA1	4976	genome.wustl.edu	37	chr3	193372651	193372651	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgatacttttttatttcagGgaggaaatccttcaacaatc	12	16	6	7	0	2	1	2	1	0	0	4	3	3	3	1	2	2	0	1	2	5	7			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr3:193372651G>T	ENST00000392438.3	+	20	2082	c.1848G>T	c.(1846-1848)tgG>tgT	p.W616C	OPA1_ENST00000361150.2_Splice_Site_p.W617C|OPA1_ENST00000361715.2_Splice_Site_p.W635C|OPA1_ENST00000361510.2_Splice_Site_p.W671C|OPA1_ENST00000361908.3_Splice_Site_p.W653C|OPA1_ENST00000361828.2_Splice_Site_p.W634C	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	616					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)		TTTATTTCAGGGAGGAAATCC	0.313																																																	0													47	46	46					3																	193372651		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1848-1G>T	3.37:g.193372651G>T			D3DNW4	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	p.W671C	ENST00000392438.3	37	c.2013	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360380	0.82353	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.97114	-3.87;-3.86;-3.79;-3.82;-3.9;-4.25	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.98365	0.9457	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.999;0.999;0.999;0.999;0.997;0.999	D	0.98552	1.0637	9	.	.	.	.	18.7245	0.91710	0.0:0.0:1.0:0.0	.	580;616;598;617;634;653;635;671	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	C	653;616;671;635;634;617	ENSP00000354681:W653C;ENSP00000376233:W616C;ENSP00000355324:W671C;ENSP00000355311:W635C;ENSP00000354429:W634C;ENSP00000354781:W617C	.	W	+	3	0	OPA1	194855345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.652000	0.90054	0.650000	0.86243	TGG	OPA1	-	NULL	ENSG00000198836		0.313	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	-	0	49	0	G	NM_130837	Missense_Mutation	193372651	1	tier1	-	no_errors	ENST00000361510	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	193372651	G	T	193372651	5	4	168	1	0	0	0	0	0	0	1	0	10910	1246	43	3	2099	3	OPA1	3	193372651	Splice_Site	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	9932812	193372651	4649779	73	42261											
HTT	3064	genome.wustl.edu	37	chr4	3136265	3136265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccttgcagagattgacttCaggtaagtgagtcacatcca	12	10	9	10	0	2	3	2	2	0	1	3	4	3	3	2	1	1	2	2	1	1	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr4:3136265C>T	ENST00000355072.5	+	19	2776	c.2631C>T	c.(2629-2631)ttC>ttT	p.F877F		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	877					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)		AGATTGACTTCAGGTAAGTGA	0.443																																																	0													133	122	126					4																	3136265		1989	4165	6154	SO:0001819	synonymous_variant	0			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.2631C>T	4.37:g.3136265C>T			Q9UQB7	Silent	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.F877	ENST00000355072.5	37	c.2631	CCDS43206.1	4																																																																																			HTT	-	superfamily_ARM-type_fold	ENSG00000197386		0.443	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0	52	0	C	NM_002111		3136265	1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.916	T	T	3136265	C	T	3136265	2	4	168	1	0	0	0	0	0	0	0	1	7484	825	29	3		3	HTT	4	3136265	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09		3136265	188018011	74	42262											
ZNF518B	85460	genome.wustl.edu	37	chr4	10445192	10445192	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctatcagtcttagttgccTtgcaacctgaaaaattgaag	12	13	8	8	0	2	2	1	2	1	0	2	2	2	2	2	0	4	3	2	0	6	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr4:10445192T>A	ENST00000326756.3	-	3	3199	c.2761A>T	c.(2761-2763)Agg>Tgg	p.R921W		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	921					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTTAGTTGCCTTGCAACCTGA	0.438																																																	0													109	106	107					4																	10445192		2203	4300	6503	SO:0001583	missense	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2761A>T	4.37:g.10445192T>A	ENSP00000317614:p.Arg921Trp		Q96LN8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R921W	ENST00000326756.3	37	c.2761	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	T	20.8	4.047513	0.75846	.	.	ENSG00000178163	ENST00000326756	T	0.03745	3.82	6.01	3.52	0.40303	.	0.054173	0.64402	D	0.000001	T	0.13415	0.0325	L	0.60455	1.87	0.44745	D	0.99774	D	0.89917	1.0	D	0.85130	0.997	T	0.00118	-1.2034	10	0.87932	D	0	-31.0755	11.2015	0.48743	0.0:0.0:0.3223:0.6777	.	921	Q9C0D4	Z518B_HUMAN	W	921	ENSP00000317614:R921W	ENSP00000317614:R921W	R	-	1	2	ZNF518B	10054290	1.000000	0.71417	0.106000	0.21319	0.953000	0.61014	1.886000	0.39688	0.480000	0.27534	0.528000	0.53228	AGG	ZNF518B	-	NULL	ENSG00000178163		0.438	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	HGNC	protein_coding	OTTHUMT00000359040.1	-	0	31	0	T	NM_053042		10445192	-1	tier1	-	no_errors	ENST00000326756	ensembl	human	known	74_37	missense	36.11	23	13	SNP	0.992	A	A	10445192	T	A	10445192	3	1	168	1	0	0	0	0	1	0	0	0	18011	1608	56	5	467	5	ZNF518B	4	10445192	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	7308927	10445192	180709084	75	42263											
PCDH7	5099	genome.wustl.edu	37	chr4	30723525	30723525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	agaatcggccggtgggcacaCtttacctgctgcccacagcc	8	7	11	15	2	0	1	0	0	0	1	1	1	0	1	4	3	4	2	4	3	2	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr4:30723525C>G	ENST00000361762.2	+	1	1489	c.481C>G	c.(481-483)Ctt>Gtt	p.L161V	PCDH7_ENST00000543491.1_Missense_Mutation_p.L161V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	161	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGTGGGCACACTTTACCTGCT	0.677																																																	0													17	13	14					4																	30723525		2198	4290	6488	SO:0001583	missense	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.481C>G	4.37:g.30723525C>G	ENSP00000355243:p.Leu161Val		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L161V	ENST00000361762.2	37	c.481	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428184	0.62844	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.37235	1.21;1.21	5.06	5.06	0.68205	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.41351	0.1155	N	0.05012	-0.13	0.44221	D	0.997059	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.995;0.998;0.989	T	0.55547	-0.8124	9	0.52906	T	0.07	.	18.4421	0.90670	0.0:1.0:0.0:0.0	.	161;161;161	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	V	161	ENSP00000355243:L161V;ENSP00000441802:L161V	ENSP00000330302:L161V	L	+	1	0	PCDH7	30332623	1.000000	0.71417	0.967000	0.41034	0.957000	0.61999	4.783000	0.62403	2.351000	0.79841	0.455000	0.32223	CTT	PCDH7	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000169851		0.677	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1	-	0	24	0	C	NM_032457, NM_002589		30723525	1	tier1	-	no_errors	ENST00000543491	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.987	G	G	30723525	C	G	30723525	3	3	168	1	0	0	0	0	1	0	0	0	11555	565	20	5	483	5	PCDH7	4	30723525	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	20278333	30723525	160430751	76	42264											
FGF5	2250	genome.wustl.edu	37	chr4	81188301	81188301	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagatctacccggatggcaAagtcaatggatcccacgaag	13	6	11	11	2	2	1	1	0	1	1	3	4	3	3	2	3	1	2	2	3	4	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr4:81188301A>C	ENST00000312465.7	+	1	549	c.323A>C	c.(322-324)aAa>aCa	p.K108T	FGF5_ENST00000456523.3_Missense_Mutation_p.K108T	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	108					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCGGATGGCAAAGTCAATGGA	0.582																																																	0													43	46	45					4																	81188301		2202	4298	6500	SO:0001583	missense	0			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.323A>C	4.37:g.81188301A>C	ENSP00000311697:p.Lys108Thr		B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.K108T	ENST00000312465.7	37	c.323	CCDS34021.1	4	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807925	0.31961	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	D;D	0.82081	-1.57;-1.57	5.51	5.51	0.81932	.	0.283311	0.38548	N	0.001656	T	0.81019	0.4736	N	0.17312	0.475	0.42409	D	0.99259	D;B	0.71674	0.998;0.025	D;B	0.66351	0.943;0.021	T	0.78262	-0.2272	10	0.23302	T	0.38	.	10.4107	0.44291	0.9188:0.0:0.0811:0.0	.	108;108	P12034-2;P12034	.;FGF5_HUMAN	T	108	ENSP00000311697:K108T;ENSP00000398353:K108T	ENSP00000311697:K108T	K	+	2	0	FGF5	81407325	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.303000	0.59098	2.317000	0.78254	0.459000	0.35465	AAA	FGF5	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000138675		0.582	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF5	HGNC	protein_coding	OTTHUMT00000252627.2	-	0	98	0	A			81188301	1	tier1	-	no_errors	ENST00000312465	ensembl	human	known	74_37	missense	8.26	100	9	SNP	1.000	C	C	81188301	A	C	81188301	3	2	168	1	0	0	0	0	1	0	0	0	5877	14	1	4	325	4	FGF5	4	81188301	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	50464776	81188301	109965975	77	42265											
ARHGAP24	83478	genome.wustl.edu	37	chr4	86916532	86916532	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcctgtcgctcttctacCaccacctgcccagagcaaga	10	8	6	17	1	2	2	0	0	2	2	4	2	3	2	5	0	4	2	5	0	3	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr4:86916532C>A	ENST00000395184.1	+	9	2191	c.1725C>A	c.(1723-1725)acC>acA	p.T575T	ARHGAP24_ENST00000264343.4_Silent_p.T482T|ARHGAP24_ENST00000395183.2_Silent_p.T480T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	575					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)		GCTCTTCTACCACCACCTGCC	0.542																																																	0													92	87	88					4																	86916532		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1725C>A	4.37:g.86916532C>A			Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.T575	ENST00000395184.1	37	c.1725	CCDS34025.1	4																																																																																			ARHGAP24	-	NULL	ENSG00000138639		0.542	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	-	0	80	0	C	NM_031305		86916532	1	tier1	-	no_errors	ENST00000395184	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	A	A	86916532	C	A	86916532	2	1	168	1	0	0	0	0	0	0	0	1	873	581	21	3		3	ARHGAP24	4	86916532	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	5728231	86916532	104237744	78	42266											
CCDC109B	55013	genome.wustl.edu	37	chr4	110605697	110605697	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagggtggggcactggcctgGctcacgtggtgggtgtactc	4	9	18	10	1	1	0	1	0	0	0	2	0	1	0	1	7	1	3	1	7	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr4:110605697G>A	ENST00000394650.4	+	6	844	c.711G>A	c.(709-711)tgG>tgA	p.W237*		NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	237					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CACTGGCCTGGCTCACGTGGT	0.488																																																	0													175	160	165					4																	110605697		2203	4300	6503	SO:0001587	stop_gained	0			BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.711G>A	4.37:g.110605697G>A	ENSP00000378145:p.Trp237*		A8K4Y3|Q6IAC1	Nonsense_Mutation	SNP	pfam_Coiled-coil-dom_prot_109_C	p.W237*	ENST00000394650.4	37	c.711	CCDS3683.2	4	.	.	.	.	.	.	.	.	.	.	G	39	7.310206	0.98203	.	.	ENSG00000005059	ENST00000394650	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.7134	19.5583	0.95363	0.0:0.0:1.0:0.0	.	.	.	.	X	237	.	ENSP00000378145:W237X	W	+	3	0	CCDC109B	110825146	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.868000	0.87116	2.602000	0.87976	0.591000	0.81541	TGG	CCDC109B	-	pfam_Coiled-coil-dom_prot_109_C	ENSG00000005059		0.488	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC109B	HGNC	protein_coding	OTTHUMT00000254865.1	-	0	51	0	G	NM_017918		110605697	1	tier1	-	no_errors	ENST00000394650	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	1.000	A	A	110605697	G	A	110605697	4	1	168	1	0	0	0	0	0	1	0	0	2752	1212	42	3	733	3	CCDC109B	4	110605697	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	23689165	110605697	80548579	79	42267											
ENPEP	2028	genome.wustl.edu	37	chr4	111434689	111434689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aataacatctgtttttgatgGaatatcctatagcaaggtgg	13	14	9	5	0	1	1	0	1	1	0	2	2	2	2	1	3	2	2	1	3	7	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr4:111434689G>T	ENST00000265162.5	+	7	1769	c.1427G>T	c.(1426-1428)gGa>gTa	p.G476V	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	476					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)		GTTTTTGATGGAATATCCTAT	0.353																																																	0													167	157	160					4																	111434689		2203	4300	6503	SO:0001583	missense	0			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.1427G>T	4.37:g.111434689G>T	ENSP00000265162:p.Gly476Val		Q504U2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G476V	ENST00000265162.5	37	c.1427	CCDS3691.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.72|14.72	2.619256|2.619256	0.46736|0.46736	.|.	.|.	ENSG00000138792|ENSG00000250511	ENST00000265162|ENST00000503998	T|.	0.02498|.	4.27|.	5.29|5.29	4.43|4.43	0.53597|0.53597	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.159045|.	0.53938|.	D|.	0.000057|.	T|T	0.55481|0.55481	0.1923|0.1923	L|L	0.41573|0.41573	1.285|1.285	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.71674|.	0.998|.	D|.	0.64506|.	0.926|.	T|T	0.51756|0.51756	-0.8665|-0.8665	10|5	0.40728|.	T|.	0.16|.	.|.	11.1941|11.1941	0.48703|0.48703	0.0:0.1384:0.7178:0.1438|0.0:0.1384:0.7178:0.1438	.|.	476|.	Q07075|.	AMPE_HUMAN|.	V|T	476|93	ENSP00000265162:G476V|.	ENSP00000265162:G476V|.	G|P	+|-	2|1	0|0	ENPEP|RP11-380D23.1	111654138|111654138	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.946000|0.946000	0.59487|0.59487	3.621000|3.621000	0.54210|0.54210	1.337000|1.337000	0.45525|0.45525	0.650000|0.650000	0.86243|0.86243	GGA|CCA	ENPEP	-	pfam_Peptidase_M1_N	ENSG00000138792		0.353	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	-	0	115	0	G			111434689	1	tier1	-	no_errors	ENST00000265162	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.998	T	T	111434689	G	T	111434689	3	4	168	1	0	0	0	0	1	0	0	0	5144	1174	41	3	1453	3	ENPEP	4	111434689	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	828992	111434689	79719587	80	42268											
ANK2	287	genome.wustl.edu	37	chr4	114161714	114161714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aactcttcttctaaaccgggGagctgctgtggacttcacag	9	11	10	11	1	4	0	1	0	3	0	4	2	4	2	1	3	4	2	1	3	3	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr4:114161714G>C	ENST00000357077.4	+	8	820	c.767G>C	c.(766-768)gGa>gCa	p.G256A	ANK2_ENST00000394537.3_Missense_Mutation_p.G256A|ANK2_ENST00000506722.1_Missense_Mutation_p.G235A|ANK2_ENST00000264366.6_Missense_Mutation_p.G256A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	256					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)		CTAAACCGGGGAGCTGCTGTG	0.398																																																	0													123	116	118					4																	114161714		2203	4300	6503	SO:0001583	missense	0			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.767G>C	4.37:g.114161714G>C	ENSP00000349588:p.Gly256Ala		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.G256A	ENST00000357077.4	37	c.767	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140347	0.77775	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.76448	-1.02;-0.18;-0.18;-0.18;-0.18;1.57;1.57	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.49305	D	0.000143	D	0.90758	0.7099	M	0.91354	3.2	0.80722	D	1	D;P;D;P;D	0.89917	1.0;0.568;0.989;0.94;0.999	D;B;P;P;D	0.91635	0.999;0.118;0.872;0.794;0.995	D	0.90703	0.4622	10	0.42905	T	0.14	.	19.3646	0.94456	0.0:0.0:1.0:0.0	.	256;256;256;235;235	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	A	235;235;235;271;256;256;256;235	ENSP00000423799:G235A;ENSP00000421011:G235A;ENSP00000421067:G235A;ENSP00000424722:G271A;ENSP00000378044:G256A;ENSP00000349588:G256A;ENSP00000264366:G256A	ENSP00000264366:G256A	G	+	2	0	ANK2	114381163	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.813000	0.99286	2.740000	0.93945	0.650000	0.86243	GGA	ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.398	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0	59	0	G	NM_001148		114161714	1			no_errors	ENST00000357077	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	C	C	114161714	G	C	114161714	3	2	168	1	0	0	0	0	1	0	0	0	621	1174	41	5	822	5	ANK2	4	114161714	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2727025	114161714	76992562	81	42269											
ANK2	287	genome.wustl.edu	37	chr4	114278214	114278214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctataaagaatcattagctCtccaaggcactcatgaaaaa	17	10	5	9	0	4	2	2	1	2	1	5	2	4	2	1	1	1	2	1	1	8	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr4:114278214C>A	ENST00000357077.4	+	38	8493	c.8440C>A	c.(8440-8442)Ctc>Atc	p.L2814I	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.L2781I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2814					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)		ATCATTAGCTCTCCAAGGCAC	0.463																																																	0													93	91	91					4																	114278214		2203	4300	6503	SO:0001583	missense	0			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.8440C>A	4.37:g.114278214C>A	ENSP00000349588:p.Leu2814Ile		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.L2814I	ENST00000357077.4	37	c.8440	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	7.615	0.675613	0.14841	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67171	-0.24;-0.25	5.76	1.99	0.26369	.	0.864573	0.09859	N	0.746434	T	0.51753	0.1693	L	0.51422	1.61	0.09310	N	0.999999	B;P	0.34757	0.337;0.467	B;B	0.25884	0.046;0.064	T	0.38373	-0.9664	9	.	.	.	.	3.8437	0.08925	0.1352:0.5948:0.1303:0.1396	.	2781;2814	Q01484;Q01484-4	ANK2_HUMAN;.	I	2814;2781	ENSP00000349588:L2814I;ENSP00000264366:L2781I	.	L	+	1	0	ANK2	114497663	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.393000	0.07305	0.354000	0.24105	0.655000	0.94253	CTC	ANK2	-	NULL	ENSG00000145362		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0	36	0	C	NM_001148		114278214	1			no_errors	ENST00000357077	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.001	A	A	114278214	C	A	114278214	3	1	168	1	0	0	0	0	1	0	0	0	621	913	32	3	8655	3	ANK2	4	114278214	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	116500	114278214	76876062	82	42270											
BBS7	55212	genome.wustl.edu	37	chr4	122789143	122789143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctatacagtaccttttgtGtagctctgtgtcttgaggca	8	16	9	8	0	3	1	0	1	3	0	3	1	3	1	1	1	3	4	1	1	4	7			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr4:122789143G>A	ENST00000264499.4	-	2	278	c.95C>T	c.(94-96)aCa>aTa	p.T32I	BBS7_ENST00000506636.1_Missense_Mutation_p.T32I|RP11-63B13.1_ENST00000567769.1_lincRNA	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	32					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TACCTTTTGTGTAGCTCTGTG	0.373									Bardet-Biedl syndrome																																								0													156	147	150					4																	122789143		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.95C>T	4.37:g.122789143G>A	ENSP00000264499:p.Thr32Ile		Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.T32I	ENST00000264499.4	37	c.95	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550215	0.86127	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.91843	-2.92;-2.92	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.95765	0.8622	M	0.78916	2.43	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	D	0.95200	0.8316	10	0.48119	T	0.1	-15.0048	19.5257	0.95206	0.0:0.0:1.0:0.0	.	32	Q8IWZ6	BBS7_HUMAN	I	32	ENSP00000264499:T32I;ENSP00000423626:T32I	ENSP00000264499:T32I	T	-	2	0	BBS7	123008593	1.000000	0.71417	0.979000	0.43373	0.930000	0.56654	7.058000	0.76676	2.614000	0.88457	0.655000	0.94253	ACA	BBS7	-	pirsf_Bardet-Biedl_syndrome_7_prot	ENSG00000138686		0.373	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	-	0	59	0	G			122789143	-1	tier1	-	no_errors	ENST00000264499	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	122789143	G	A	122789143	3	1	168	1	0	0	0	0	1	0	0	0	1342	1377	48	3	2129	3	BBS7	4	122789143	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	8510929	122789143	68365133	83	42271											
PHF17	79960	genome.wustl.edu	37	chr4	129792508	129792508	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgtggttttatgtttatAggtgtgccttcttcctgctc	4	21	9	7	0	1	0	0	0	1	0	3	0	2	0	2	2	2	3	2	2	3	8			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr4:129792508A>G	ENST00000226319.6	+	11	1901		c.e11-1		PHF17_ENST00000512960.1_Splice_Site|PHF17_ENST00000452328.2_Splice_Site	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						TTATGTTTATAGGTGTGCCTT	0.413																																																	0													141	135	137					4																	129792508		2203	4300	6503	SO:0001630	splice_region_variant	0																														ENST00000226319.6:c.1622-1A>G	4.37:g.129792508A>G				Splice_Site	SNP	-	e10-2	ENST00000226319.6	37	c.1622-2	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	A	13.71	2.319238	0.41096	.	.	ENSG00000077684	ENST00000226319;ENST00000452328;ENST00000512960;ENST00000535321	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1588	0.54093	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF17	130011958	1.000000	0.71417	0.883000	0.34634	0.664000	0.39144	5.443000	0.66581	1.849000	0.53698	0.459000	0.35465	.	PHF17	-	-	ENSG00000077684		0.413	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1		0	45	0	A		Intron	129792508	1			no_errors	ENST00000226319	ensembl	human	known	74_37	splice_site	14.29	18	3	SNP	0.965	G	G	129792508	A	G	129792508	5	3	168	1	0	0	0	0	0	0	1	0	11867	434	15	4	1685	4	PHF17	4	129792508	Splice_Site	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	7003365	129792508	61361768	84	42272											
DCHS2	54798	genome.wustl.edu	37	chr4	155180876	155180876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatttctgacttcaaaatCaagaaacttgggttctttca	12	15	5	9	0	6	2	4	1	2	1	6	2	6	2	0	1	1	1	0	1	4	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr4:155180876C>G	ENST00000357232.4	-	20	5244	c.5245G>C	c.(5245-5247)Gat>Cat	p.D1749H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1749	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTTCAAAATCAAGAAACTTG	0.323																																																	0													83	78	79					4																	155180876		2203	4300	6503	SO:0001583	missense	0			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.5245G>C	4.37:g.155180876C>G	ENSP00000349768:p.Asp1749His		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D1749H	ENST00000357232.4	37	c.5245	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447433	0.84101	.	.	ENSG00000197410	ENST00000357232	T	0.65364	-0.15	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.87176	0.6112	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91260	0.5036	10	0.87932	D	0	.	18.5738	0.91147	0.0:1.0:0.0:0.0	.	1749	Q6V1P9	PCD23_HUMAN	H	1749	ENSP00000349768:D1749H	ENSP00000349768:D1749H	D	-	1	0	DCHS2	155400326	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	5.919000	0.70005	2.760000	0.94817	0.655000	0.94253	GAT	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.323	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2		0	59	0	C	NM_001142552		155180876	-1			no_errors	ENST00000357232	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	G	G	155180876	C	G	155180876	3	3	168	1	0	0	0	0	1	0	0	0	4297	826	29	5	3529	5	DCHS2	4	155180876	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	25388368	155180876	35973400	85	42273											
SLC12A7	10723	genome.wustl.edu	37	chr5	1079589	1079589	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatccttgaggtccccggaCcggtttgaacccgccatgat	7	9	11	14	3	0	3	0	3	0	0	2	4	2	4	6	3	1	2	6	3	1	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr5:1079589C>G	ENST00000264930.5	-	10	1363	c.1320G>C	c.(1318-1320)cgG>cgC	p.R440R		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	440					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)	GGTCCCCGGACCGGTTTGAAC	0.567																																																	0													130	120	124					5																	1079589		2202	4297	6499	SO:0001819	synonymous_variant	0			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.1320G>C	5.37:g.1079589C>G			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.R440	ENST00000264930.5	37	c.1320	CCDS34129.1	5																																																																																			SLC12A7	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000113504		0.567	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	-	0	42	0	C	NM_006598		1079589	-1	tier1	-	no_errors	ENST00000264930	ensembl	human	known	74_37	silent	11.36	39	5	SNP	0.734	G	G	1079589	C	G	1079589	2	3	168	1	0	0	0	0	0	0	0	1	14433	494	18	5		5	SLC12A7	5	1079589	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09		1079589	179835671	86	42274											
FBXL7	23194	genome.wustl.edu	37	chr5	15928017	15928017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactccgacctgagcatgcGcacactgagcacgcccagcc	10	4	10	17	3	0	3	0	2	0	1	1	4	1	3	4	0	4	3	4	0	0	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr5:15928017G>T	ENST00000504595.1	+	3	627	c.146G>T	c.(145-147)cGc>cTc	p.R49L	FBXL7_ENST00000329673.7_Missense_Mutation_p.R37L|FBXL7_ENST00000510662.1_Missense_Mutation_p.R2L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	49					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R49H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTGAGCATGCGCACACTGAGC	0.572																																																	1	Substitution - Missense(1)	prostate(1)											89	97	94					5																	15928017		2084	4217	6301	SO:0001583	missense	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.146G>T	5.37:g.15928017G>T	ENSP00000423630:p.Arg49Leu		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.R49L	ENST00000504595.1	37	c.146	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579733	0.86645	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.12039	2.87;2.72;2.88	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	T	0.01508	-1.1337	10	0.38643	T	0.18	.	19.2506	0.93923	0.0:0.0:1.0:0.0	.	49	Q9UJT9	FBXL7_HUMAN	L	49;2;37	ENSP00000423630:R49L;ENSP00000425184:R2L;ENSP00000329632:R37L	ENSP00000329632:R37L	R	+	2	0	FBXL7	15981017	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.206000	0.95056	2.571000	0.86741	0.563000	0.77884	CGC	FBXL7	-	NULL	ENSG00000183580		0.572	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1		0	60	0	G	NM_012304		15928017	1			no_errors	ENST00000504595	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T	T	15928017	G	T	15928017	3	4	168	1	0	0	0	0	1	0	0	0	5746	1087	38	2	156	2	FBXL7	5	15928017	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	14848428	15928017	164987243	87	42275											
MYO10	4651	genome.wustl.edu	37	chr5	16670647	16670647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctcacctccacatcaaaCagcgtcgagccatagccagg	11	7	8	15	2	2	0	2	0	1	0	5	1	3	0	4	1	4	1	4	1	2	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr5:16670647C>T	ENST00000513610.1	-	39	6325	c.5871G>A	c.(5869-5871)ctG>ctA	p.L1957L	MYO10_ENST00000427430.2_Silent_p.L1314L|MYO10_ENST00000515803.1_Silent_p.L1296L|MYO10_ENST00000274203.9_Silent_p.L1314L|MYO10_ENST00000505695.1_Silent_p.L1296L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1957	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCACATCAAACAGCGTCGAGC	0.537																																																	0													46	48	47					5																	16670647		2115	4237	6352	SO:0001819	synonymous_variant	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5871G>A	5.37:g.16670647C>T			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.L1957	ENST00000513610.1	37	c.5871	CCDS54834.1	5																																																																																			MYO10	-	pfam_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000145555		0.537	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	-	0	55	0	C	NM_012334		16670647	-1	tier1	-	no_errors	ENST00000513610	ensembl	human	known	74_37	silent	10.00	45	5	SNP	0.994	T	T	16670647	C	T	16670647	2	4	168	1	0	0	0	0	0	0	0	1	10100	465	17	3		3	MYO10	5	16670647	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	742630	16670647	164244613	88	42276											
EGFLAM	133584	genome.wustl.edu	37	chr5	38338853	38338853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggagcagttgcacagCgtgcctctcagccgggacat	8	7	13	13	2	1	0	1	0	1	0	2	2	1	2	2	2	6	4	2	2	0	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr5:38338853C>T	ENST00000354891.3	+	3	607	c.261C>T	c.(259-261)agC>agT	p.S87S	EGFLAM_ENST00000322350.5_Silent_p.S87S	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	87	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGTTGCACAGCGTGCCTCTCA	0.557																																					Colon(62;485 1295 3347 17454)												0													90	83	85					5																	38338853		2203	4300	6503	SO:0001819	synonymous_variant	0			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.261C>T	5.37:g.38338853C>T			A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.S87	ENST00000354891.3	37	c.261	CCDS56363.1	5																																																																																			EGFLAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164318		0.557	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	-	0	59	0	C	NM_152403		38338853	1	tier1	-	no_errors	ENST00000354891	ensembl	human	known	74_37	silent	29.17	34	14	SNP	0.004	T	T	38338853	C	T	38338853	2	4	168	1	0	0	0	0	0	0	0	1	4980	767	27	1		1	EGFLAM	5	38338853	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	21668206	38338853	142576407	89	42277											
BHMT2	23743	genome.wustl.edu	37	chr5	78376682	78376682	+	Missense_Mutation	SNP	T	T	C	0	1	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	agtttttgcctggaaaaatgTggacttcttgattgcagagg	10	14	12	5	0	1	2	0	1	1	1	1	4	1	4	1	3	2	2	1	3	2	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr5:78376682T>C	ENST00000255192.3	+	4	497	c.431T>C	c.(430-432)gTg>gCg	p.V144A	BHMT2_ENST00000521567.1_Intron|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	144	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)	TGGAAAAATGTGGACTTCTTG	0.398																																																	0													78	80	79					5																	78376682		2203	4300	6503	SO:0001583	missense	0				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.431T>C	5.37:g.78376682T>C	ENSP00000255192:p.Val144Ala		B7Z516|Q9NXX7	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.V144A	ENST00000255192.3	37	c.431	CCDS4045.1	5	.	.	.	.	.	.	.	.	.	.	T	19.17	3.774838	0.70107	.	.	ENSG00000132840	ENST00000255192	T	0.35236	1.32	6.16	6.16	0.99307	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	L	0.52011	1.625	0.80722	D	1	P	0.51240	0.943	D	0.66602	0.945	T	0.38222	-0.9671	10	0.22706	T	0.39	-27.8215	16.8061	0.85666	0.0:0.0:0.0:1.0	.	144	Q9H2M3	BHMT2_HUMAN	A	144	ENSP00000255192:V144A	ENSP00000255192:V144A	V	+	2	0	BHMT2	78412438	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.846000	0.62860	2.367000	0.80283	0.528000	0.53228	GTG	BHMT2	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	ENSG00000132840		0.398	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT2	HGNC	protein_coding	OTTHUMT00000226962.2	-	0	64	0	T	NM_017614		78376682	1	tier1	-	no_errors	ENST00000255192	ensembl	human	known	74_37	missense	21.31	48	13	SNP	1.000	C	C	78376682	T	C	78376682	3	2	168	1	0	0	0	0	1	0	0	0	1428	1696	59	4	445	4	BHMT2	5	78376682	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	40037829	78376682	102538578	90	42278											
CMYA5	202333	genome.wustl.edu	37	chr5	79030185	79030185	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatttgcctttggaacaatCaaaatcatttatgacaacca	16	12	5	8	0	2	1	2	1	0	0	2	3	2	2	2	1	3	0	2	1	7	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr5:79030185C>G	ENST00000446378.2	+	2	5628	c.5597C>G	c.(5596-5598)tCa>tGa	p.S1866*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1866					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)		TTGGAACAATCAAAATCATTT	0.358																																																	0													79	77	78					5																	79030185		1815	4079	5894	SO:0001587	stop_gained	0			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.5597C>G	5.37:g.79030185C>G	ENSP00000394770:p.Ser1866*		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S1866*	ENST00000446378.2	37	c.5597	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	42	9.403407	0.99161	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.42	3.63	0.41609	.	0.376195	0.19635	N	0.109590	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	8.963	0.35858	0.0:0.8231:0.0:0.1769	.	.	.	.	X	1866	.	ENSP00000394770:S1866X	S	+	2	0	CMYA5	79065941	0.285000	0.24296	0.742000	0.31022	0.131000	0.20780	1.358000	0.34102	1.293000	0.44690	-0.143000	0.13931	TCA	CMYA5	-	NULL	ENSG00000164309		0.358	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	58	0	C	NM_153610		79030185	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	nonsense	9.62	47	5	SNP	0.567	G	G	79030185	C	G	79030185	4	3	168	1	0	0	0	0	0	1	0	0	3597	838	29	5	5603	5	CMYA5	5	79030185	Nonsense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	653503	79030185	101885075	91	42279											
CMYA5	202333	genome.wustl.edu	37	chr5	79031154	79031154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtccagcttgttttttggatCgagcactccagataacaaag	11	12	9	9	1	0	1	0	0	0	1	3	3	2	2	2	1	3	3	2	1	2	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr5:79031154C>G	ENST00000446378.2	+	2	6597	c.6566C>G	c.(6565-6567)tCg>tGg	p.S2189W		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2189					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)		TTTTTTGGATCGAGCACTCCA	0.438																																																	0													73	72	73					5																	79031154		1875	4123	5998	SO:0001583	missense	0			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.6566C>G	5.37:g.79031154C>G	ENSP00000394770:p.Ser2189Trp		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S2189W	ENST00000446378.2	37	c.6566	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422740	0.62733	.	.	ENSG00000164309	ENST00000446378	T	0.22945	1.93	6.16	5.25	0.73442	.	0.166603	0.29028	N	0.013374	T	0.43277	0.1240	L	0.46157	1.445	0.40375	D	0.979385	D	0.89917	1.0	D	0.85130	0.997	T	0.23762	-1.0179	10	0.87932	D	0	.	12.7147	0.57109	0.0:0.8355:0.1645:0.0	.	2189	Q8N3K9	CMYA5_HUMAN	W	2189	ENSP00000394770:S2189W	ENSP00000394770:S2189W	S	+	2	0	CMYA5	79066910	0.992000	0.36948	1.000000	0.80357	0.952000	0.60782	1.551000	0.36233	2.937000	0.99478	0.650000	0.86243	TCG	CMYA5	-	NULL	ENSG00000164309		0.438	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	44	0	C	NM_153610		79031154	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	18.64	48	11	SNP	0.999	G	G	79031154	C	G	79031154	3	3	168	1	0	0	0	0	1	0	0	0	3597	893	31	5	6572	5	CMYA5	5	79031154	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	969	79031154	101884106	92	42280											
MGC29506	51237	genome.wustl.edu	37	chr5	138725440	138725440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgagtacatctcctcatCatccagttgtggggctgtgg	6	12	13	10	0	3	1	2	1	1	0	5	1	4	1	2	4	1	4	2	4	1	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr5:138725440C>G	ENST00000302125.8	-	1	163	c.106G>C	c.(106-108)Gat>Cat	p.D36H	MZB1_ENST00000457570.2_Missense_Mutation_p.D36H|MZB1_ENST00000412103.2_5'UTR	NM_016459.3	NP_057543.2	Q8WU39	MZB1_HUMAN	marginal zone B and B1 cell-specific protein	36					apoptotic process (GO:0006915)|integrin activation (GO:0033622)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin biosynthetic process (GO:0002642)|regulation of B cell proliferation (GO:0030888)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)											ATCTCCTCATCATCCAGTTGT	0.647																																																	0													73	80	77					5																	138725440		2188	4282	6470	SO:0001583	missense	0			AF151024	CCDS47273.1	5q31.2	2012-09-27	2012-09-19		ENSG00000170476	ENSG00000170476			30125	protein-coding gene	gene with protein product	"plasma cell-induced ER protein 1", "proapoptotic caspase adaptor protein", "mesenteric oestrogen-dependent adipose gene- 7"	609447				22573353, 12573802, 11350957, 21093319, 21688198	Standard	NM_016459		Approved	PACAP, MGC29506, HSPC190, pERp1, MEDA-7	uc003lei.3	Q8WU39	OTTHUMG00000163390	ENST00000302125.8:c.106G>C	5.37:g.138725440C>G	ENSP00000303920:p.Asp36His		D2IYS0|Q7Z6N2|Q96RL5|Q9P0T3	Missense_Mutation	SNP	NULL	p.D36H	ENST00000302125.8	37	c.106	CCDS47273.1	5	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239490	0.58995	.	.	ENSG00000170476	ENST00000302125;ENST00000457570	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	T	0.41026	0.1141	N	0.24115	0.695	0.30387	N	0.781342	D	0.56521	0.976	P	0.51582	0.674	T	0.40664	-0.9551	8	0.87932	D	0	.	13.3918	0.60829	0.0:1.0:0.0:0.0	.	36	Q8WU39	PERP1_HUMAN	H	36	.	ENSP00000303920:D36H	D	-	1	0	RP11-1280I22.1	138753339	0.809000	0.29036	0.860000	0.33809	0.914000	0.54420	2.786000	0.47790	2.633000	0.89246	0.650000	0.86243	GAT	MZB1	-	NULL	ENSG00000170476		0.647	MZB1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MZB1	HGNC	protein_coding	OTTHUMT00000373055.1		0	62	0	C	NM_016459		138725440	-1			no_errors	ENST00000503481	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.860	G	G	138725440	C	G	138725440	3	3	168	1	0	0	0	0	1	0	0	0	9589	826	29	5	479	5	MGC29506	5	138725440	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	59694286	138725440	42189820	93	42281											
CNOT8	9337	genome.wustl.edu	37	chr5	154244791	154244791	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggtgcgaccaattggtGaatttcgtagttccatagat	9	15	11	6	2	0	2	0	1	0	1	2	3	1	2	2	2	1	2	2	2	4	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr5:154244791G>T	ENST00000517876.1	+	4	633	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	CNOT8_ENST00000403027.2_Nonsense_Mutation_p.E53*|CNOT8_ENST00000521583.1_5'UTR|CNOT8_ENST00000524105.1_5'UTR|CNOT8_ENST00000520671.1_5'UTR|CNOT8_ENST00000521402.1_3'UTR|CNOT8_ENST00000519404.1_Nonsense_Mutation_p.E53*|CNOT8_ENST00000523698.1_Intron|CNOT8_ENST00000285896.6_Nonsense_Mutation_p.E53*|CNOT8_ENST00000521450.1_Intron			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	53					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|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)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACCAATTGGTGAATTTCGTAG	0.413																																					NSCLC(140;1804 1895 27149 29895 35312)												0													189	189	189					5																	154244791		2203	4300	6503	SO:0001587	stop_gained	0			AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"PGK promoter directed over production"	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.157G>T	5.37:g.154244791G>T	ENSP00000430493:p.Glu53*		B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Nonsense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.E53*	ENST00000517876.1	37	c.157	CCDS4329.1	5	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914337	0.92178	.	.	ENSG00000155508	ENST00000517876;ENST00000520472;ENST00000519211;ENST00000522458;ENST00000403027;ENST00000517568;ENST00000285896;ENST00000542339;ENST00000519430;ENST00000518028;ENST00000519404;ENST00000519394;ENST00000518775	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-16.0039	18.5463	0.91047	0.0:0.0:1.0:0.0	.	.	.	.	X	53;53;53;53;53;53;53;30;53;53;53;53;53	.	ENSP00000285896:E53X	E	+	1	0	CNOT8	154224984	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.394000	0.97261	2.366000	0.80165	0.557000	0.71058	GAA	CNOT8	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	ENSG00000155508		0.413	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNOT8	HGNC	protein_coding	OTTHUMT00000377449.1	-	0	105	0	G	NM_004779		154244791	1	tier1	-	no_errors	ENST00000285896	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	1.000	T	T	154244791	G	T	154244791	4	4	168	1	0	0	0	0	0	1	0	0	3632	1291	45	3	163	3	CNOT8	5	154244791	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	15519351	154244791	26670469	94	42282											
CLINT1	9685	genome.wustl.edu	37	chr5	157218893	157218893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gccactaacaagttctaccgCtggctgtgaggcactgccaa	10	8	10	13	1	1	1	0	1	1	0	1	1	1	1	3	2	3	4	3	2	4	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr5:157218893C>T	ENST00000411809.2	-	10	1402	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T	CLINT1_ENST00000530742.1_Missense_Mutation_p.A382T|CLINT1_ENST00000523908.1_Missense_Mutation_p.A400T|CLINT1_ENST00000523094.1_Missense_Mutation_p.A382T|CLINT1_ENST00000296951.5_Missense_Mutation_p.A382T	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	400					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)			AGTTCTACCGCTGGCTGTGAG	0.542																																					Colon(22;427 587 2170 6147 14291)												0													77	82	80					5																	157218893		2078	4230	6308	SO:0001583	missense	0			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.1198G>A	5.37:g.157218893C>T	ENSP00000388340:p.Ala400Thr		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.A382T	ENST00000411809.2	37	c.1144	CCDS47330.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.73|13.73	2.325432|2.325432	0.41197|0.41197	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	T;T;T;T;T|.	0.48522|.	0.84;0.84;0.82;0.84;0.81|.	5.69|5.69	2.94|2.94	0.34122|0.34122	.|.	0.271207|.	0.36303|.	N|.	0.002675|.	T|T	0.45637|0.45637	0.1352|0.1352	L|L	0.36672|0.36672	1.1|1.1	0.39556|0.39556	D|D	0.969054|0.969054	B;B|.	0.15930|.	0.015;0.013|.	B;B|.	0.14578|.	0.011;0.005|.	T|T	0.26467|0.26467	-1.0102|-1.0102	10|5	0.24483|.	T|.	0.36|.	-30.7073|-30.7073	8.0574|8.0574	0.30612|0.30612	0.1226:0.6957:0.1179:0.0637|0.1226:0.6957:0.1179:0.0637	.|.	400;400|.	B7Z6F8;Q14677|.	.;EPN4_HUMAN|.	T|N	382;382;400;382;400|91	ENSP00000429345:A382T;ENSP00000433419:A382T;ENSP00000388340:A400T;ENSP00000296951:A382T;ENSP00000429824:A400T|.	ENSP00000296951:A382T|.	A|S	-|-	1|2	0|0	CLINT1|CLINT1	157151471|157151471	0.009000|0.009000	0.17119|0.17119	0.357000|0.357000	0.25798|0.25798	0.390000|0.390000	0.30446|0.30446	-0.209000|-0.209000	0.09358|0.09358	0.425000|0.425000	0.26087|0.26087	-0.158000|-0.158000	0.13435|0.13435	GCG|AGC	CLINT1	-	NULL	ENSG00000113282		0.542	CLINT1-001	KNOWN	basic|CCDS	protein_coding	CLINT1	HGNC	protein_coding	OTTHUMT00000374001.1		0	83	0	C	NM_014666		157218893	-1			no_errors	ENST00000296951	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.990	T	T	157218893	C	T	157218893	3	4	168	1	0	0	0	0	1	0	0	0	3538	797	28	3	691	3	CLINT1	5	157218893	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	2974102	157218893	23696367	95	42283											
ATP10B	23120	genome.wustl.edu	37	chr5	159992805	159992805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtctgcttctccaactCtggatttccaggtttctttt	4	19	6	12	0	5	0	0	0	5	0	7	1	6	1	2	2	2	2	2	2	1	5	rs267600524		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr5:159992805C>T	ENST00000327245.5	-	26	4887	c.4041G>A	c.(4039-4041)caG>caA	p.Q1347Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1347					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)			TTCTCCAACTCTGGATTTCCA	0.502																																																	0													120	123	122					5																	159992805		1836	4094	5930	SO:0001819	synonymous_variant	0			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.4041G>A	5.37:g.159992805C>T			Q9H725	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.Q1347	ENST00000327245.5	37	c.4041	CCDS43394.1	5																																																																																			ATP10B	-	NULL	ENSG00000118322		0.502	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1		0	43	0	C	NM_025153		159992805	-1			no_errors	ENST00000327245	ensembl	human	known	74_37	silent	9.68	28	3	SNP	1.000	T	T	159992805	C	T	159992805	2	4	168	1	0	0	0	0	0	0	0	1	1118	912	32	3		3	ATP10B	5	159992805	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	2773912	159992805	20922455	96	42284											
PROP1	5626	genome.wustl.edu	37	chr5	177420005	177420005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggctgaagcagtgagCgctcttgcttccgttgctta	7	11	12	11	2	1	3	0	2	1	1	2	3	2	3	2	1	4	6	2	1	2	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr5:177420005C>T	ENST00000308304.2	-	3	694	c.386G>A	c.(385-387)cGc>cAc	p.R129H		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	129					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCAGTGAGCGCTCTTGCTT	0.567																																																	0													148	135	139					5																	177420005		2203	4300	6503	SO:0001583	missense	0			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.386G>A	5.37:g.177420005C>T	ENSP00000311290:p.Arg129His			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.R129H	ENST00000308304.2	37	c.386	CCDS4430.1	5	.	.	.	.	.	.	.	.	.	.	.	16.63	3.177496	0.57692	.	.	ENSG00000175325	ENST00000308304	D	0.95885	-3.84	3.22	3.22	0.36961	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.38005	N	0.001842	D	0.94295	0.8167	L	0.32530	0.975	0.34067	D	0.657929	D	0.89917	1.0	D	0.63192	0.912	D	0.94555	0.7757	10	0.72032	D	0.01	-17.2775	6.4353	0.21819	0.0:0.8612:0.0:0.1388	.	129	O75360	PROP1_HUMAN	H	129	ENSP00000311290:R129H	ENSP00000311290:R129H	R	-	2	0	PROP1	177352611	0.990000	0.36364	0.987000	0.45799	0.548000	0.35241	3.960000	0.56752	1.830000	0.53286	0.467000	0.42956	CGC	PROP1	-	superfamily_Homeodomain-like,smart_Homeobox_dom	ENSG00000175325		0.567	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROP1	HGNC	protein_coding	OTTHUMT00000253472.1	-	0	48	0	C	NM_006261		177420005	-1	tier1	-	no_errors	ENST00000308304	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.995	T	T	177420005	C	T	177420005	3	4	168	1	0	0	0	0	1	0	0	0	12599	768	27	1	298	1	PROP1	5	177420005	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	17427200	177420005	3495255	97	42285											
SSR1	6745	genome.wustl.edu	37	chr6	7299004	7299004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatctaacccatcctctCtttcaataactgtaactgtt	10	15	2	14	0	3	0	1	0	2	0	6	0	5	0	3	0	3	2	3	0	4	5	rs149302696	byFrequency	TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:7299004C>A	ENST00000244763.4	-	5	682	c.596G>T	c.(595-597)aGa>aTa	p.R199I	SSR1_ENST00000474597.1_Missense_Mutation_p.R199I|SSR1_ENST00000488834.1_5'Flank|SSR1_ENST00000479365.1_Missense_Mutation_p.R199I|SSR1_ENST00000489567.1_Missense_Mutation_p.R131I|SSR1_ENST00000534851.1_Missense_Mutation_p.R172I|SSR1_ENST00000462112.1_Missense_Mutation_p.R199I|RP11-69L16.4_ENST00000379928.4_RNA|SSR1_ENST00000397511.2_Missense_Mutation_p.R199I	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	199					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)|positive regulation of cell proliferation (GO:0008284)|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)		p.R199T(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					CCCATCCTCTCTTTCAATAAC	0.338																																																	1	Substitution - Missense(1)	NS(1)											201	180	187					6																	7299004		2203	4299	6502	SO:0001583	missense	0				CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"translocon-associated protein alpha"	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.596G>T	6.37:g.7299004C>A	ENSP00000244763:p.Arg199Ile		A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	Missense_Mutation	SNP	pfam_TRAP_alpha	p.R199I	ENST00000244763.4	37	c.596	CCDS4499.1	6	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076617	0.55753	.	.	ENSG00000124783	ENST00000474597;ENST00000244763;ENST00000397511;ENST00000534851;ENST00000489567;ENST00000479365;ENST00000479485;ENST00000462112	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.8	4.92	0.64577	.	0.147317	0.64402	D	0.000007	T	0.12944	0.0314	N	0.17082	0.46	0.58432	D	0.999999	B;B;B	0.23377	0.008;0.084;0.014	B;B;B	0.26416	0.02;0.069;0.02	T	0.08027	-1.0742	10	0.36615	T	0.2	.	6.2873	0.21041	0.0:0.7714:0.0:0.2286	.	199;131;199	C9J5W0;C9JBX5;P43307	.;.;SSRA_HUMAN	I	199;199;199;172;131;199;36;199	ENSP00000418617:R199I;ENSP00000244763:R199I;ENSP00000380647:R199I;ENSP00000443020:R172I;ENSP00000420730:R131I;ENSP00000417911:R199I;ENSP00000419953:R36I;ENSP00000417290:R199I	ENSP00000244763:R199I	R	-	2	0	SSR1	7244003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.078000	0.41567	2.740000	0.93945	0.650000	0.86243	AGA	SSR1	-	pfam_TRAP_alpha	ENSG00000124783		0.338	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR1	HGNC	protein_coding	OTTHUMT00000039775.2		0	50	0	C			7299004	-1			no_errors	ENST00000244763	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	7299004	C	A	7299004	3	1	168	1	0	0	0	0	1	0	0	0	15237	913	32	3	280	3	SSR1	6	7299004	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09		7299004	163816063	98	42286											
TRIM38	10475	genome.wustl.edu	37	chr6	25983831	25983831	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacatctttactttcccGaaggcttccttctctgatac	7	15	5	14	1	2	1	0	1	2	0	5	2	4	1	3	1	3	1	3	1	3	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:25983831G>T	ENST00000357085.3	+	8	1790	c.1314G>T	c.(1312-1314)ccG>ccT	p.P438P	TRIM38_ENST00000349458.3_Silent_p.P438P|U91328.21_ENST00000608931.1_RNA	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	438	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.P438P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TTACTTTCCCGAAGGCTTCCT	0.478																																																	1	Substitution - coding silent(1)	lung(1)											72	71	71					6																	25983831		2203	4300	6503	SO:0001819	synonymous_variant	0			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1314G>T	6.37:g.25983831G>T			B2R862	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.P438	ENST00000357085.3	37	c.1314	CCDS4568.1	6																																																																																			TRIM38	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000112343		0.478	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM38	HGNC	protein_coding	OTTHUMT00000040076.2		0	55	0	G			25983831	1			no_errors	ENST00000349458	ensembl	human	known	74_37	silent	6.38	44	3	SNP	0.000	T	T	25983831	G	T	25983831	2	4	168	1	0	0	0	0	0	0	0	1	16560	1045	37	2		2	TRIM38	6	25983831	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	18684827	25983831	145131236	99	42287											
BTN1A1	696	genome.wustl.edu	37	chr6	26509061	26509061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctctccggacccctctcCcattggcagggcccccacgc	4	7	8	22	2	2	0	0	0	2	0	5	1	3	1	7	3	0	1	7	3	0	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:26509061C>T	ENST00000244513.6	+	7	1306	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	414	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GACCCCTCTCCCATTGGCAGG	0.502																																																	0													66	66	66					6																	26509061		2203	4300	6503	SO:0001583	missense	0			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1240C>T	6.37:g.26509061C>T	ENSP00000244513:p.Pro414Ser		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.P414S	ENST00000244513.6	37	c.1240	CCDS4614.1	6	.	.	.	.	.	.	.	.	.	.	C	8.215	0.801243	0.16397	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.68331	-0.32	5.98	4.2	0.49525	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.353856	0.24755	N	0.035877	T	0.14657	0.0354	N	0.01464	-0.85	0.19300	N	0.999979	B	0.23990	0.095	B	0.28305	0.088	T	0.31613	-0.9937	10	0.06625	T	0.88	.	10.3267	0.43798	0.0:0.8416:0.0:0.1584	.	414	Q13410	BT1A1_HUMAN	S	414	ENSP00000244513:P414S	ENSP00000244513:P414S	P	+	1	0	BTN1A1	26617040	0.000000	0.05858	0.385000	0.26158	0.245000	0.25701	0.137000	0.15995	1.533000	0.49186	0.655000	0.94253	CCA	BTN1A1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000124557		0.502	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	HGNC	protein_coding	OTTHUMT00000043776.1		0	52	0	C	NM_001732		26509061	1			no_errors	ENST00000244513	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.346	T	T	26509061	C	T	26509061	3	4	168	1	0	0	0	0	1	0	0	0	1563	623	22	3	1266	3	BTN1A1	6	26509061	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	525230	26509061	144606006	100	42288											
HIST1H1B	3009	genome.wustl.edu	37	chr6	27835282	27835282	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccaccggcgctggggtggctGtctcggcaggagcggtttcc	3	8	17	13	4	1	0	0	0	1	0	3	1	2	1	3	7	1	4	3	7	0	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:27835282G>T	ENST00000331442.3	-	1	77	c.26C>A	c.(25-27)aCa>aAa	p.T9K		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	9					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						TGGGGTGGCTGTCTCGGCAGG	0.592																																																	0													19	23	22					6																	27835282		2108	4104	6212	SO:0001583	missense	0			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.26C>A	6.37:g.27835282G>T	ENSP00000330074:p.Thr9Lys		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.T9K	ENST00000331442.3	37	c.26	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909007	0.52439	.	.	ENSG00000184357	ENST00000331442	T	0.03889	3.77	5.58	5.58	0.84498	.	0.135015	0.33572	N	0.004775	T	0.01765	0.0056	N	0.08118	0	0.49483	D	0.999798	B	0.26400	0.148	B	0.22152	0.038	T	0.54596	-0.8270	10	0.72032	D	0.01	-35.6893	18.5435	0.91038	0.0:0.0:1.0:0.0	.	9	P16401	H15_HUMAN	K	9	ENSP00000330074:T9K	ENSP00000330074:T9K	T	-	2	0	HIST1H1B	27943261	0.885000	0.30320	0.821000	0.32701	0.030000	0.12068	2.686000	0.46968	2.793000	0.96121	0.655000	0.94253	ACA	HIST1H1B	-	NULL	ENSG00000184357		0.592	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	-	0	76	0	G	NM_005322		27835282	-1	tier1	-	no_errors	ENST00000331442	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.893	T	T	27835282	G	T	27835282	3	4	168	1	0	0	0	0	1	0	0	0	7150	1377	48	3	658	3	HIST1H1B	6	27835282	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1326221	27835282	143279785	101	42289											
HIST1H2AM	8336	genome.wustl.edu	37	chr6	27860562	27860562	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttagctttgtggtggctCtcagtcttcttggggagcag	4	14	13	10	0	3	0	1	0	3	0	4	1	3	1	1	4	2	3	1	4	1	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:27860562C>T	ENST00000359611.2	-	1	401	c.366G>A	c.(364-366)gaG>gaA	p.E122E	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TGTGGTGGCTCTCAGTCTTCT	0.493																																																	0													125	121	122					6																	27860562		2203	4300	6503	SO:0001819	synonymous_variant	0			X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"Histones / Replication-dependent"	4735	protein-coding gene	gene with protein product		602796	"H2A histone family, member N", "histone 1, H2am"	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.366G>A	6.37:g.27860562C>T			P02261|Q2M1R2|Q76PA6	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E122	ENST00000359611.2	37	c.366	CCDS4639.1	6																																																																																			HIST1H2AM	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000233224		0.493	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AM	HGNC	protein_coding	OTTHUMT00000040162.1	-	0	135	0	C	NM_003514		27860562	-1	tier1	-	no_errors	ENST00000359611	ensembl	human	known	74_37	silent	13.79	100	16	SNP	1.000	T	T	27860562	C	T	27860562	2	4	168	1	0	0	0	0	0	0	0	1	7166	912	32	3		3	HIST1H2AM	6	27860562	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	25280	27860562	143254505	102	42290											
TRIM27	5987	genome.wustl.edu	37	chr6	28876863	28876863	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	caggaatcctgattctttcaGccctaaatttaaaaaacatg	15	12	5	9	0	2	1	1	1	1	0	3	2	3	2	2	1	2	0	2	1	6	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:28876863G>T	ENST00000377199.3	-	5	1129	c.773C>A	c.(772-774)gCt>gAt	p.A258D	TRIM27_ENST00000377194.3_Missense_Mutation_p.A258D|TRIM27_ENST00000498117.1_5'Flank	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	258					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GATTCTTTCAGCCCTAAATTT	0.423			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0													56	58	57					6																	28876863		2201	4300	6501	SO:0001583	missense	0			Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.773C>A	6.37:g.28876863G>T	ENSP00000366404:p.Ala258Asp		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.A258D	ENST00000377199.3	37	c.773	CCDS4654.1	6	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570852	0.65765	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.62364	0.56;0.03	4.29	4.29	0.51040	.	0.000000	0.52532	D	0.000079	T	0.65123	0.2661	L	0.49126	1.545	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;0.994	D;D;P	0.77004	0.971;0.989;0.795	T	0.61907	-0.6966	10	0.36615	T	0.2	.	12.5492	0.56218	0.0:0.0:1.0:0.0	.	325;258;258	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	D	258	ENSP00000366404:A258D;ENSP00000366399:A258D	ENSP00000366399:A258D	A	-	2	0	TRIM27	28984842	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.029000	0.41098	2.675000	0.91044	0.655000	0.94253	GCT	TRIM27	-	NULL	ENSG00000204713		0.423	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2	-	0	41	0	G	NM_030950		28876863	-1	tier1	-	no_errors	ENST00000377199	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	28876863	G	T	28876863	3	4	168	1	0	0	0	0	1	0	0	0	16549	971	34	3	784	3	TRIM27	6	28876863	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1016301	28876863	142238204	103	42291											
TRIM10	10107	genome.wustl.edu	37	chr6	30126364	30126364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaaacttcctcaggtgtgCgaactcagaaatcacctgtt	12	11	8	10	1	3	2	3	0	0	2	4	3	4	2	2	1	3	1	2	1	4	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:30126364C>T	ENST00000449742.2	-	3	643	c.568G>A	c.(568-570)Gca>Aca	p.A190T	TRIM10_ENST00000376704.3_Missense_Mutation_p.A190T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	190					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.A190T(1)		ovary(1)	1						CTCAGGTGTGCGAACTCAGAA	0.512																																																	1	Substitution - Missense(1)	prostate(1)											262	283	276					6																	30126364		1511	2709	4220	SO:0001583	missense	0			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.568G>A	6.37:g.30126364C>T	ENSP00000397073:p.Ala190Thr		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.A190T	ENST00000449742.2	37	c.568	CCDS34375.1	6	.	.	.	.	.	.	.	.	.	.	C	6.673	0.492709	0.12702	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.04758	3.56;3.56	5.68	0.586	0.17434	.	0.376195	0.22913	N	0.054107	T	0.01835	0.0058	M	0.71581	2.175	0.18873	N	0.999986	B;B	0.28971	0.147;0.229	B;B	0.28709	0.035;0.093	T	0.40701	-0.9549	10	0.49607	T	0.09	.	2.9036	0.05713	0.2355:0.5001:0.121:0.1434	.	190;190	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	T	190	ENSP00000397073:A190T;ENSP00000365894:A190T	ENSP00000365894:A190T	A	-	1	0	TRIM10	30234343	0.001000	0.12720	0.124000	0.21820	0.005000	0.04900	-0.436000	0.06922	0.072000	0.16694	-2.526000	0.00183	GCA	TRIM10	-	NULL	ENSG00000204613		0.512	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM10	HGNC	protein_coding	OTTHUMT00000076634.1	-	0	30	0	C			30126364	-1	tier1	-	no_errors	ENST00000449742	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.216	T	T	30126364	C	T	30126364	3	4	168	1	0	0	0	0	1	0	0	0	16534	768	27	1	985	1	TRIM10	6	30126364	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1249501	30126364	140988703	104	42292											
GNL1	2794	genome.wustl.edu	37	chr6	30515132	30515132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccctccccgtcatacctgCaactgcctaggcagaagaga	11	6	8	16	1	1	2	1	0	0	2	2	3	2	2	5	1	4	2	5	1	4	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:30515132C>A	ENST00000376621.3	-	9	2245	c.1275G>T	c.(1273-1275)ttG>ttT	p.L425F		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	425					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCATACCTGCAACTGCCTAG	0.542																																																	0													217	211	213					6																	30515132		2203	4300	6503	SO:0001583	missense	0				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1275G>T	6.37:g.30515132C>A	ENSP00000365806:p.Leu425Phe		B0S838|Q96CT5	Missense_Mutation	SNP	pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.L425F	ENST00000376621.3	37	c.1275	CCDS4680.1	6	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052750	0.55218	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.49139	0.79	5.19	3.26	0.37387	.	0.077759	0.52532	D	0.000080	T	0.26231	0.0640	L	0.41632	1.29	0.50171	D	0.999857	P;P;B	0.49090	0.727;0.919;0.134	P;P;B	0.51229	0.461;0.663;0.062	T	0.08597	-1.0714	10	0.10111	T	0.7	-16.2531	8.0279	0.30448	0.0:0.7526:0.0:0.2474	.	423;222;425	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	F	425;247;222	ENSP00000365806:L425F	ENSP00000365806:L425F	L	-	3	2	GNL1	30623111	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	0.441000	0.21611	1.419000	0.47118	0.561000	0.74099	TTG	GNL1	-	superfamily_P-loop_NTPase	ENSG00000204590		0.542	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	HGNC	protein_coding	OTTHUMT00000076241.2	-	0	61	0	C			30515132	-1	tier1	-	no_errors	ENST00000376621	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	A	A	30515132	C	A	30515132	3	1	168	1	0	0	0	0	1	0	0	0	6561	709	25	3	564	3	GNL1	6	30515132	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	388768	30515132	140599935	105	42293											
NRM	11270	genome.wustl.edu	37	chr6	30656474	30656474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctggggccgagagagcagGtggagttttctttgtagctg	6	12	16	7	1	1	1	0	0	1	1	2	4	2	2	2	4	2	4	2	4	1	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:30656474G>T	ENST00000259953.4	-	5	1104	c.753C>A	c.(751-753)caC>caA	p.H251Q	NRM_ENST00000376420.5_Missense_Mutation_p.H192Q|PPP1R18_ENST00000488324.1_5'Flank|NRM_ENST00000376421.5_Missense_Mutation_p.H251Q|NRM_ENST00000470733.1_5'UTR|PPP1R18_ENST00000399199.3_5'Flank|PPP1R18_ENST00000274853.3_5'Flank	NM_007243.2	NP_009174.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	251	Leu-rich.					integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)				large_intestine(1)|lung(2)	3						GAGAGAGCAGGTGGAGTTTTC	0.562																																																	0													54	61	59					6																	30656474		2203	4300	6503	SO:0001583	missense	0			AF143676	CCDS4686.1, CCDS59498.1	6p21.3	2010-02-17			ENSG00000137404	ENSG00000137404			8003	protein-coding gene	gene with protein product						10402458, 17517639	Standard	NM_007243		Approved	NRM29	uc031sng.1	Q8IXM6	OTTHUMG00000031223	ENST00000259953.4:c.753C>A	6.37:g.30656474G>T	ENSP00000259953:p.His251Gln		B0S7R0|B0S7R1|I3XIE2|I3XIE3|Q5JP57|Q5JP58|Q5JP59|Q5JP60|Q8WU45|Q9BSX3|Q9UN92	Missense_Mutation	SNP	pfam_NnrU	p.H251Q	ENST00000259953.4	37	c.753	CCDS4686.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.410|1.410	-0.575785|-0.575785	0.03882|0.03882	.|.	.|.	ENSG00000137404|ENSG00000137404	ENST00000259953;ENST00000376420;ENST00000376421|ENST00000444096	.|.	.|.	.|.	5.26|5.26	2.18|2.18	0.27775|0.27775	.|.	0.739829|.	0.13316|.	N|.	0.397116|.	T|T	0.06142|0.06142	0.0159|0.0159	N|N	0.02315|0.02315	-0.6|-0.6	0.22066|0.22066	N|N	0.999382|0.999382	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.40365|0.40365	-0.9567|-0.9567	9|5	0.06365|.	T|.	0.9|.	-9.0241|-9.0241	15.8986|15.8986	0.79356|0.79356	0.0:0.3948:0.6051:0.0|0.0:0.3948:0.6051:0.0	.|.	251|.	Q8IXM6|.	NRM_HUMAN|.	Q|T	251;192;251|251	.|.	ENSP00000259953:H251Q|.	H|P	-|-	3|1	2|0	NRM|NRM	30764453|30764453	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.855000|0.855000	0.48748|0.48748	0.706000|0.706000	0.25690|0.25690	0.566000|0.566000	0.29273|0.29273	0.655000|0.655000	0.94253|0.94253	CAC|CCT	NRM	-	NULL	ENSG00000137404		0.562	NRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRM	HGNC	protein_coding	OTTHUMT00000076466.2	-	0	62	0	G			30656474	-1	tier1	-	no_errors	ENST00000259953	ensembl	human	known	74_37	missense	23.53	39	12	SNP	0.935	T	T	30656474	G	T	30656474	3	4	168	1	0	0	0	0	1	0	0	0	10696	1252	44	3	39	3	NRM	6	30656474	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	141342	30656474	140458593	106	42294											
TAP1	6890	genome.wustl.edu	37	chr6	32818769	32818769	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaggaaaagcagaggcagGgtgatcagggtgaccatggt	14	5	17	5	0	1	4	1	2	0	2	1	5	1	5	1	5	1	2	1	5	3	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:32818769G>T	ENST00000354258.4	-	4	1343	c.1182C>A	c.(1180-1182)acC>acA	p.T394T	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Silent_p.T133T	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	394	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GCAGAGGCAGGGTGATCAGGG	0.532																																																	0													151	132	139					6																	32818769		1511	2708	4219	SO:0001819	synonymous_variant	0				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1182C>A	6.37:g.32818769G>T			Q16149|Q96CP4	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B2,tigrfam_Ag_transporter2	p.T394	ENST00000354258.4	37	c.1182	CCDS4758.1	6																																																																																			TAP1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Ag_transporter2	ENSG00000168394		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2		0	72	0	G	NM_000593		32818769	-1			no_errors	ENST00000354258	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.026	T	T	32818769	G	T	32818769	2	4	168	1	0	0	0	0	0	0	0	1	15597	1219	43	3		3	TAP1	6	32818769	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2162295	32818769	138296298	107	42295											
OPN5	221391	genome.wustl.edu	37	chr6	47775894	47775894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctttccctcatcaggtagCgatgttgatttgtgctggat	6	16	11	8	1	2	1	2	1	0	0	3	3	3	2	1	2	3	4	1	2	1	4	rs200503533		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:47775894C>T	ENST00000371211.2	+	5	789	c.761C>T	c.(760-762)gCg>gTg	p.A254V	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000489301.2_Missense_Mutation_p.A254V|OPN5_ENST00000393699.2_Missense_Mutation_p.A254V	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	254					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CATCAGGTAGCGATGTTGATT	0.468																																					Melanoma(28;740 973 10870 42660 45347)												0													357	325	336					6																	47775894		2203	4300	6503	SO:0001583	missense	0			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.761C>T	6.37:g.47775894C>T	ENSP00000360255:p.Ala254Val		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin	p.A254V	ENST00000371211.2	37	c.761	CCDS4923.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.479687	0.96307	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.34275	1.37;1.37;1.37	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40423	0.1116	L	0.31752	0.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03287	-1.1052	10	0.22706	T	0.39	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	254	Q6U736	OPN5_HUMAN	V	254	ENSP00000426991:A254V;ENSP00000360255:A254V;ENSP00000377302:A254V	ENSP00000360255:A254V	A	+	2	0	OPN5	47883853	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	7.445000	0.80570	2.861000	0.98227	0.655000	0.94253	GCG	OPN5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000124818		0.468	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	HGNC	protein_coding	OTTHUMT00000359451.1		0	31	0	C	NM_181744		47775894	1			no_errors	ENST00000371211	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	47775894	C	T	47775894	3	4	168	1	0	0	0	0	1	0	0	0	10922	768	27	1	779	1	OPN5	6	47775894	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	14957125	47775894	123339173	108	42296											
DST	667	genome.wustl.edu	37	chr6	56417401	56417401	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatcaaactctgcgaactGagaaaacatttctcgaatgg	15	10	7	9	2	4	1	2	1	2	1	5	4	4	1	0	1	4	0	0	1	5	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:56417401G>A	ENST00000361203.3	-	57	15563	c.15556C>T	c.(15556-15558)Cag>Tag	p.Q5186*	DST_ENST00000370788.2_Nonsense_Mutation_p.Q3100*|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Nonsense_Mutation_p.Q4862*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q3100*|DST_ENST00000370754.5_Nonsense_Mutation_p.Q5366*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q2774*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q5188*			Q03001	DYST_HUMAN	dystonin	5186					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)			TCTGCGAACTGAGAAAACATT	0.403																																																	0													59	55	56					6																	56417401		1870	4105	5975	SO:0001587	stop_gained	0			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.15556C>T	6.37:g.56417401G>A	ENSP00000354508:p.Gln5186*		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	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.Q5366*	ENST00000361203.3	37	c.16096		6	.	.	.	.	.	.	.	.	.	.	G	55	25.073061	0.99963	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	6.17	6.17	0.99709	.	0.124326	0.36703	N	0.002454	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	2774;5366;5188;3100;4862;3100;5186	.	ENSP00000244364:Q2774X	Q	-	1	0	DST	56525360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.747000	0.55134	2.941000	0.99782	0.655000	0.94253	CAG	DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0	17	0	G	NM_001723		56417401	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	nonsense	11.76	15	2	SNP	1.000	A	A	56417401	G	A	56417401	4	1	168	1	0	0	0	0	0	1	0	0	4797	1299	45	3	7367	3	DST	6	56417401	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	8641507	56417401	114697666	109	42297											
TMEM30A	55754	genome.wustl.edu	37	chr6	75965914	75965914	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggagatggatccaacagcGatgtaagcaatccccaaaaa	18	5	9	9	1	0	1	0	0	0	1	2	4	2	2	3	2	3	2	3	2	6	1	rs557948243		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:75965914G>A	ENST00000230461.6	-	7	1319	c.990C>T	c.(988-990)atC>atT	p.I330I	TMEM30A_ENST00000370050.5_Silent_p.I211I|TMEM30A_ENST00000475111.2_Silent_p.I294I	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	330					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						ATCCAACAGCGATGTAAGCAA	0.363																																																	0													118	110	113					6																	75965914		2203	4300	6503	SO:0001819	synonymous_variant	0			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.990C>T	6.37:g.75965914G>A			A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Silent	SNP	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	p.I330	ENST00000230461.6	37	c.990	CCDS4983.1	6																																																																																			TMEM30A	-	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	ENSG00000112697		0.363	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30A	HGNC	protein_coding	OTTHUMT00000041248.2		0	44	0	G	NM_018247		75965914	-1			no_errors	ENST00000230461	ensembl	human	known	74_37	silent	5.88	32	2	SNP	1.000	A	A	75965914	G	A	75965914	2	1	168	1	0	0	0	0	0	0	0	1	16200	1048	37	1		1	TMEM30A	6	75965914	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	19548513	75965914	95149153	110	42298											
MDN1	23195	genome.wustl.edu	37	chr6	90438848	90438848	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgcaatattattcctgtgTaggacaggtccttaagtgga	10	14	10	7	0	1	0	0	0	1	0	3	2	3	2	2	3	1	2	2	3	5	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:90438848T>A	ENST00000369393.3	-	36	5266	c.5151A>T	c.(5149-5151)ctA>ctT	p.L1717L	MDN1_ENST00000428876.1_Silent_p.L1717L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1717					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)		TATTCCTGTGTAGGACAGGTC	0.413																																																	0													45	38	40					6																	90438848		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5151A>T	6.37:g.90438848T>A			O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L1717	ENST00000369393.3	37	c.5151	CCDS5024.1	6																																																																																			MDN1	-	superfamily_P-loop_NTPase,pirsf_Midasin	ENSG00000112159		0.413	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2		0	34	0	T			90438848	-1			no_errors	ENST00000369393	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.000	A	A	90438848	T	A	90438848	2	1	168	1	0	0	0	0	0	0	0	1	9453	1625	57	5		5	MDN1	6	90438848	Silent	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	14472934	90438848	80676219	111	42299											
CASP8AP2	9994	genome.wustl.edu	37	chr6	90573976	90573976	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcattgaccttaatcacCtgagacctattccagaagcc	12	10	7	12	0	1	4	1	3	0	2	2	5	2	4	5	0	2	1	5	0	3	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:90573976C>G	ENST00000551025.1	+	0	3985									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)		CCTTAATCACCTGAGACCTAT	0.418																																					Colon(187;1656 2025 17045 31481 39901)												0													62	60	61					6																	90573976		1875	4120	5995			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573976C>G				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.418	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		-	0	95	0	C	NM_001137667		90573976	1	tier1	-	no_errors	ENST00000237177	ensembl	human	known	74_37	rna	33.33	34	17	SNP	0.016	G	G	90573976	C	G	90573976	1	3	168	0	1	0	0	0	0	0	0	0	2685	680	24	5		5	CASP8AP2	6	90573976	RNA	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	135128	90573976	80541091	112	42300											
C6orf170	221322	genome.wustl.edu	37	chr6	121655463	121655463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagatgtaaaagaatCtcttcggcacactccaggga	12	9	8	12	1	1	2	0	0	1	2	6	3	4	3	3	2	0	2	3	2	3	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:121655463C>A	ENST00000398212.2	-	1	163	c.114G>T	c.(112-114)gaG>gaT	p.E38D	TBC1D32_ENST00000275159.6_Missense_Mutation_p.E38D	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	38					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)										GTAAAAGAATCTCTTCGGCAC	0.488																																																	0													66	66	66					6																	121655463		1887	4107	5994	SO:0001583	missense	0			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.114G>T	6.37:g.121655463C>A	ENSP00000381270:p.Glu38Asp		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	NULL	p.E38D	ENST00000398212.2	37	c.114	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409300	0.42715	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.24723	1.84;1.84;1.84	5.25	2.39	0.29439	.	0.063308	0.64402	N	0.000010	T	0.06325	0.0163	L	0.38175	1.15	0.36145	D	0.847085	P	0.36315	0.547	B	0.34093	0.175	T	0.26780	-1.0093	10	0.19590	T	0.45	-11.275	7.0946	0.25303	0.0:0.6572:0.1233:0.2195	.	38	Q96NH3	BROMI_HUMAN	D	38	ENSP00000275159:E38D;ENSP00000381270:E38D;ENSP00000397993:E38D	ENSP00000275159:E38D	E	-	3	2	C6orf170	121697162	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.089000	0.30890	0.316000	0.23135	0.313000	0.20887	GAG	TBC1D32	-	NULL	ENSG00000146350		0.488	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2	-	0	69	0	C	NM_152730		121655463	-1	tier1	-	no_errors	ENST00000464622	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	A	A	121655463	C	A	121655463	3	1	168	1	0	0	0	0	1	0	0	0	2351	912	32	3	3787	3	C6orf170	6	121655463	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	31081487	121655463	49459604	113	42301											
LAMA2	3908	genome.wustl.edu	37	chr6	129649505	129649505	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	cctgggcacctgtgttccatGtcaatgtaatggacacagca	10	10	10	11	0	1	0	1	0	0	0	2	1	2	1	3	2	1	4	3	2	2	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr6:129649505G>A	ENST00000421865.2	+	29	4308	c.4259G>A	c.(4258-4260)tGt>tAt	p.C1420Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1420	Laminin EGF-like 15. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTGTTCCATGTCAATGTAAT	0.532																																																	0													147	121	130					6																	129649505		2203	4300	6503	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4259G>A	6.37:g.129649505G>A	ENSP00000400365:p.Cys1420Tyr		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.C1420Y	ENST00000421865.2	37	c.4259	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850574	0.71719	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94330	-3.4	5.15	5.15	0.70609	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	H	0.99487	4.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99878	1.1107	10	0.87932	D	0	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	1420;1420	A6NF00;P24043	.;LAMA2_HUMAN	Y	1420	ENSP00000400365:C1420Y	ENSP00000346769:C1420Y	C	+	2	0	LAMA2	129691198	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	8.160000	0.89653	2.393000	0.81446	0.467000	0.42956	TGT	LAMA2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000196569		0.532	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0	72	0	G			129649505	1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	9.43	48	5	SNP	1.000	A	A	129649505	G	A	129649505	3	1	168	1	0	0	0	0	1	0	0	0	8634	1377	48	3	4373	3	LAMA2	6	129649505	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	7994042	129649505	41465562	114	42302											
RADIL	55698	genome.wustl.edu	37	chr7	4874346	4874346	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcacaggaggaaggcGggggtcagcttgtggtcgtc	8	6	19	8	2	1	1	1	0	0	1	3	3	1	3	0	7	1	2	0	7	1	1	rs540883493		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:4874346G>T	ENST00000399583.3	-	4	1495	c.1308C>A	c.(1306-1308)ccC>ccA	p.P436P	RADIL_ENST00000538469.1_Silent_p.P196P|RADIL_ENST00000536091.1_Silent_p.P436P	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	436					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)		GGAGGAAGGCGGGGGTCAGCT	0.642																																																	0													20	26	24					7																	4874346		2124	4237	6361	SO:0001819	synonymous_variant	0			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.1308C>A	7.37:g.4874346G>T			A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.P436	ENST00000399583.3	37	c.1308	CCDS43544.1	7																																																																																			RADIL	-	NULL	ENSG00000157927		0.642	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2		0	101	0	G	NM_018059		4874346	-1			no_errors	ENST00000399583	ensembl	human	known	74_37	silent	6.33	73	5	SNP	0.028	T	T	4874346	G	T	4874346	2	4	168	1	0	0	0	0	0	0	0	1	13042	1103	39	2		2	RADIL	7	4874346	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09		4874346	154264317	115	42303											
PHF14	9678	genome.wustl.edu	37	chr7	11022380	11022380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgttaacacatccccttCtgttcccactacgacaaccg	9	11	5	16	2	1	0	0	0	1	0	3	1	3	0	4	0	4	3	4	0	3	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:11022380C>T	ENST00000403050.3	+	3	946	c.494C>T	c.(493-495)tCt>tTt	p.S165F	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	165					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACATCCCCTTCTGTTCCCACT	0.488																																																	0													62	66	65					7																	11022380		2030	4192	6222	SO:0001583	missense	0			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.494C>T	7.37:g.11022380C>T	ENSP00000385795:p.Ser165Phe		A7MCZ3|B4DI82	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S165F	ENST00000403050.3	37	c.494	CCDS47542.1	7	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861468	0.32884	.	.	ENSG00000106443	ENST00000403050	T	0.64991	-0.13	5.11	5.11	0.69529	.	0.968208	0.08526	N	0.932683	T	0.45538	0.1347	N	0.08118	0	0.80722	D	1	P;P	0.44578	0.838;0.838	B;B	0.38562	0.276;0.276	T	0.47586	-0.9106	10	0.56958	D	0.05	.	13.8926	0.63750	0.0:1.0:0.0:0.0	.	165;165	A8MSQ1;O94880	.;PHF14_HUMAN	F	165	ENSP00000385795:S165F	ENSP00000385795:S165F	S	+	2	0	PHF14	10988905	0.145000	0.22656	0.998000	0.56505	0.699000	0.40488	2.199000	0.42715	2.641000	0.89580	0.585000	0.79938	TCT	PHF14	-	NULL	ENSG00000106443		0.488	PHF14-001	KNOWN	basic|CCDS	protein_coding	PHF14	HGNC	protein_coding	OTTHUMT00000318212.1	-	0	57	0	C	NM_014660		11022380	1	tier1	-	no_errors	ENST00000403050	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.992	T	T	11022380	C	T	11022380	3	4	168	1	0	0	0	0	1	0	0	0	11864	913	32	3	504	3	PHF14	7	11022380	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	6148034	11022380	148116283	116	42304											
STK31	56164	genome.wustl.edu	37	chr7	23768795	23768795	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctttggagctgcagttttCtagtgttgccaaaaagtata	10	15	9	7	0	1	0	0	0	1	0	2	1	2	1	2	1	3	5	2	1	5	7			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:23768795C>G	ENST00000355870.3	+	6	529	c.410C>G	c.(409-411)tCt>tGt	p.S137C	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.S114C|STK31_ENST00000433467.2_Missense_Mutation_p.S137C|STK31_ENST00000428484.1_Missense_Mutation_p.S114C	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	137	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.					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						CTGCAGTTTTCTAGTGTTGCC	0.348																																																	0													92	96	95					7																	23768795		2203	4300	6503	SO:0001583	missense	0			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.410C>G	7.37:g.23768795C>G	ENSP00000348132:p.Ser137Cys		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom	p.S137C	ENST00000355870.3	37	c.410	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	c	22.3	4.268974	0.80469	.	.	ENSG00000196335	ENST00000355870;ENST00000422637;ENST00000456014;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	5.79	5.79	0.91817	Tudor subgroup (1);Maternal tudor protein (1);	0.206931	0.41823	D	0.000807	T	0.24547	0.0595	N	0.25647	0.755	0.38742	D	0.953912	D;D	0.69078	0.997;0.997	P;P	0.60173	0.87;0.87	T	0.01608	-1.1313	10	0.87932	D	0	-4.3059	18.8116	0.92059	0.0:1.0:0.0:0.0	.	137;137	B4DZ06;Q9BXU1	.;STK31_HUMAN	C	137;93;114;137;114;114	ENSP00000348132:S137C;ENSP00000414087:S93C;ENSP00000389340:S114C;ENSP00000411852:S137C;ENSP00000346660:S114C;ENSP00000406146:S114C	ENSP00000346660:S114C	S	+	2	0	STK31	23735320	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.792000	0.69052	2.716000	0.92895	0.591000	0.81541	TCT	STK31	-	pfam_Tudor,pfscan_Tudor	ENSG00000196335		0.348	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	-	0	124	0	C	NM_031414		23768795	1	tier1	-	no_errors	ENST00000355870	ensembl	human	known	74_37	missense	5.50	103	6	SNP	1.000	G	G	23768795	C	G	23768795	3	3	168	1	0	0	0	0	1	0	0	0	15343	913	32	5	432	5	STK31	7	23768795	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	12746415	23768795	135369868	117	42305											
NFE2L3	9603	genome.wustl.edu	37	chr7	26224313	26224313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacatttagaagagatccaaCagcaaggacttcacagtcac	16	8	7	10	0	2	2	2	0	0	2	3	4	3	3	1	1	3	1	1	1	5	4	rs147199325		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:26224313C>T	ENST00000056233.3	+	4	1254	c.995C>T	c.(994-996)aCa>aTa	p.T332I		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	332					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						AGAGATCCAACAGCAAGGACT	0.408																																																	0													108	96	100					7																	26224313		2203	4300	6503	SO:0001583	missense	0			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.995C>T	7.37:g.26224313C>T	ENSP00000056233:p.Thr332Ile		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.T332I	ENST00000056233.3	37	c.995	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	c	0.830	-0.745584	0.03065	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.31247	1.5	4.63	-5.14	0.02875	.	1.593220	0.03300	N	0.188821	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20107	-1.0285	10	0.38643	T	0.18	1.2662	4.7543	0.13075	0.1048:0.4831:0.2352:0.177	.	332	Q9Y4A8	NF2L3_HUMAN	I	332;38	ENSP00000056233:T332I	ENSP00000056233:T332I	T	+	2	0	NFE2L3	26190838	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.396000	0.07278	-0.575000	0.05982	-1.912000	0.00520	ACA	NFE2L3	-	NULL	ENSG00000050344		0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	-	0	45	0	C			26224313	1	tier1	rs147199325	no_errors	ENST00000056233	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.000	T	T	26224313	C	T	26224313	3	4	168	1	0	0	0	0	1	0	0	0	10408	478	17	3	1009	3	NFE2L3	7	26224313	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	2455518	26224313	132914350	118	42306											
HOXA5	3202	genome.wustl.edu	37	chr7	27183145	27183145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattgctcgctcacggaacTatgatctccataattatgca	12	12	7	10	2	2	1	1	1	1	0	4	3	2	2	1	1	3	3	1	1	5	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:27183145T>C	ENST00000222726.3	-	1	142	c.82A>G	c.(82-84)Agt>Ggt	p.S28G	HOXA5_ENST00000520854.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|HOXA6_ENST00000521478.1_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	28					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|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)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CTCACGGAACTATGATCTCCA	0.507																																					Colon(119;75 2200 7557 42868)												0													72	76	74					7																	27183145		2203	4300	6503	SO:0001583	missense	0				CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"Homeoboxes / ANTP class : HOXL subclass"	5106	protein-coding gene	gene with protein product		142952	"homeo box A5"	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.82A>G	7.37:g.27183145T>C	ENSP00000222726:p.Ser28Gly		A4D179|O43367|Q96CY6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S28G	ENST00000222726.3	37	c.82	CCDS5406.1	7	.	.	.	.	.	.	.	.	.	.	T	10.86	1.470000	0.26423	.	.	ENSG00000106004	ENST00000222726	D	0.91740	-2.9	5.56	5.56	0.83823	.	0.092293	0.64402	D	0.000001	D	0.87497	0.6192	L	0.39514	1.22	0.36478	D	0.867651	B	0.02656	0.0	B	0.04013	0.001	D	0.84699	0.0727	10	0.12103	T	0.63	.	15.3799	0.74648	0.0:0.0:0.0:1.0	.	28	P20719	HXA5_HUMAN	G	28	ENSP00000222726:S28G	ENSP00000222726:S28G	S	-	1	0	HOXA5	27149670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.789000	0.62446	2.102000	0.63906	0.482000	0.46254	AGT	HOXA5	-	NULL	ENSG00000106004		0.507	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA5	HGNC	protein_coding	OTTHUMT00000358705.1		0	76	0	T			27183145	-1			no_errors	ENST00000222726	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	C	C	27183145	T	C	27183145	3	2	168	1	0	0	0	0	1	0	0	0	7322	1522	53	4	738	4	HOXA5	7	27183145	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	958832	27183145	131955518	119	42307											
AOAH	313	genome.wustl.edu	37	chr7	36561702	36561702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagggctgtccgcctctCttctgccactcctgtatgac	4	12	9	16	1	2	1	0	1	2	0	5	1	4	1	5	1	2	2	5	1	1	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:36561702C>A	ENST00000258749.5	-	20	1941	c.1542G>T	c.(1540-1542)aaG>aaT	p.K514N	AOAH_ENST00000538464.1_Missense_Mutation_p.K236N|AOAH_ENST00000535891.1_Missense_Mutation_p.K482N|AOAH_ENST00000431169.1_Missense_Mutation_p.K514N	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	514					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTCCGCCTCTCTTCTGCCACT	0.547																																																	0													88	72	78					7																	36561702		2203	4300	6503	SO:0001583	missense	0			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1542G>T	7.37:g.36561702C>A	ENSP00000258749:p.Lys514Asn		A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	p.K514N	ENST00000258749.5	37	c.1542	CCDS5448.1	7	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671725	0.29693	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	4.92	-1.2	0.09554	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.360354	0.26424	N	0.024452	T	0.16171	0.0389	.	.	.	0.26827	N	0.968662	P;B;P	0.51147	0.942;0.357;0.491	P;B;B	0.50270	0.636;0.076;0.171	T	0.09530	-1.0670	9	0.45353	T	0.12	.	8.5751	0.33595	0.0:0.4298:0.0:0.5702	.	482;514;514	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	N	236;482;514;514;514	ENSP00000439283:K236N;ENSP00000441101:K482N;ENSP00000258749:K514N;ENSP00000405683:K514N	ENSP00000258749:K514N	K	-	3	2	AOAH	36528227	0.000000	0.05858	0.720000	0.30636	0.987000	0.75469	-0.149000	0.10204	-0.471000	0.06891	0.462000	0.41574	AAG	AOAH	-	pfam_Lipase_GDSL	ENSG00000136250		0.547	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	-	0	64	0	C	NM_001637		36561702	-1	tier1	-	no_errors	ENST00000258749	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.839	A	A	36561702	C	A	36561702	3	1	168	1	0	0	0	0	1	0	0	0	726	912	32	3	534	3	AOAH	7	36561702	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	9378557	36561702	122576961	120	42308											
FIGNL1	63979	genome.wustl.edu	37	chr7	50513641	50513641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaatgcacttgccaattaGagttttaccagtcccaggag	12	10	9	10	0	0	1	0	0	0	1	1	2	1	2	3	1	4	3	3	1	4	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:50513641G>C	ENST00000419119.1	-	2	2898	c.1345C>G	c.(1345-1347)Cta>Gta	p.L449V	FIGNL1_ENST00000433017.1_Missense_Mutation_p.L449V|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L449V|FIGNL1_ENST00000395556.2_Missense_Mutation_p.L449V			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	449					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.L449L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGCCAATTAGAGTTTTACCA	0.458																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											52	53	53					7																	50513641		2203	4300	6503	SO:0001583	missense	0			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1345C>G	7.37:g.50513641G>C	ENSP00000410811:p.Leu449Val		D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L449V	ENST00000419119.1	37	c.1345	CCDS5510.1	7	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675540	0.67928	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	5.99	4.18	0.49190	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	D	0.97012	0.9024	M	0.87328	2.875	0.80722	D	1	D	0.59357	0.985	D	0.66351	0.943	D	0.97464	1.0036	10	0.87932	D	0	-9.5128	12.3571	0.55182	0.1376:0.0:0.8624:0.0	.	449	Q6PIW4	FIGL1_HUMAN	V	449	ENSP00000349356:L449V;ENSP00000378924:L449V;ENSP00000399997:L449V;ENSP00000410811:L449V	ENSP00000349356:L449V	L	-	1	2	FIGNL1	50481135	1.000000	0.71417	0.899000	0.35326	0.997000	0.91878	6.779000	0.75057	1.538000	0.49270	0.655000	0.94253	CTA	FIGNL1	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000132436		0.458	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FIGNL1	HGNC	protein_coding	OTTHUMT00000342579.1	-	0	71	0	G	NM_001042762		50513641	-1	tier1	-	no_errors	ENST00000356889	ensembl	human	known	74_37	missense	12.96	47	7	SNP	1.000	C	C	50513641	G	C	50513641	3	2	168	1	0	0	0	0	1	0	0	0	5914	933	33	5	683	5	FIGNL1	7	50513641	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	13951939	50513641	108625022	121	42309											
C7orf42	55069	genome.wustl.edu	37	chr7	66410195	66410195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccttcggagggtattcccGcaacgtcacccatctgtact	8	10	8	15	3	2	0	1	0	1	0	4	1	3	1	3	2	2	3	3	2	3	4	rs374932648		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:66410195G>A	ENST00000341567.4	+	3	647	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	131						integral component of membrane (GO:0016021)											GGGTATTCCCGCAACGTCACC	0.557																																																	0								G	HIS/ARG	0,4406		0,0,2203	103	101	101		392	5.8	1	7		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	C7orf42	NM_017994.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	131/315	66410195	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.392G>A	7.37:g.66410195G>A	ENSP00000340668:p.Arg131His		Q53H07|Q96FR2	Missense_Mutation	SNP	NULL	p.R131H	ENST00000341567.4	37	c.392	CCDS5536.1	7	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069252	0.55539	0.0	1.16E-4	ENSG00000106609	ENST00000341567;ENST00000424964	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	N	0.20986	0.625	0.80722	D	1	B	0.23891	0.093	B	0.16722	0.016	T	0.40079	-0.9582	9	0.20519	T	0.43	-10.4256	19.0145	0.92888	0.0:0.0:1.0:0.0	.	131	Q9NWD8	CG042_HUMAN	H	131	.	ENSP00000340668:R131H	R	+	2	0	C7orf42	66047630	1.000000	0.71417	0.974000	0.42286	0.581000	0.36288	9.394000	0.97261	2.735000	0.93741	0.655000	0.94253	CGC	TMEM248	-	NULL	ENSG00000106609		0.557	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM248	HGNC	protein_coding	OTTHUMT00000251745.2	-	0	47	0	G	NM_017994		66410195	1	tier1	-	no_errors	ENST00000341567	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	66410195	G	A	66410195	3	1	168	1	0	0	0	0	1	0	0	0	2399	1087	38	1	398	1	C7orf42	7	66410195	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	15896554	66410195	92728468	122	42310											
GRM3	2913	genome.wustl.edu	37	chr7	86468286	86468286	+	Missense_Mutation	SNP	T	T	C	0	1	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	cctacttgaaagttggtcacTgggcagaaaccttatcgcta	11	11	9	10	1	1	2	1	1	0	1	2	2	1	2	2	2	2	3	2	2	5	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:86468286T>C	ENST00000361669.2	+	4	2555	c.1456T>C	c.(1456-1458)Tgg>Cgg	p.W486R	GRM3_ENST00000536043.1_Missense_Mutation_p.W358R|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.W78R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	486					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)					AGTTGGTCACTGGGCAGAAAC	0.473																																					GBM(52;969 1098 3139 52280)												0													83	76	78					7																	86468286		2203	4300	6503	SO:0001583	missense	0				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.1456T>C	7.37:g.86468286T>C	ENSP00000355316:p.Trp486Arg		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.W486R	ENST00000361669.2	37	c.1456	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	T	18.50	3.636990	0.67130	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.91464	-2.46;-2.85;-2.46	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	L	0.52573	1.65	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	0.94332	0.7563	10	0.87932	D	0	.	15.5295	0.75942	0.0:0.0:0.0:1.0	.	78;358;486	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	R	486;78;358	ENSP00000355316:W486R;ENSP00000444064:W78R;ENSP00000441407:W358R	ENSP00000355316:W486R	W	+	1	0	GRM3	86306222	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	TGG	GRM3	-	superfamily_Peripla_BP_I	ENSG00000198822		0.473	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	-	0	110	0	T			86468286	1	tier1	-	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	16.84	79	16	SNP	1.000	C	C	86468286	T	C	86468286	3	2	168	1	0	0	0	0	1	0	0	0	6825	1580	55	4	1466	4	GRM3	7	86468286	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	20058091	86468286	72670377	123	42311											
C7orf63	79846	genome.wustl.edu	37	chr7	89917577	89917577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggaactgaaggagtagatatCgttcttcatgtgatgaaaac	14	11	11	5	1	2	4	1	3	1	1	3	6	2	6	0	2	2	2	0	2	6	4	rs188534119	byFrequency	TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:89917577C>G	ENST00000389297.4	+	15	1937	c.1686C>G	c.(1684-1686)atC>atG	p.I562M	C7orf63_ENST00000316089.8_Missense_Mutation_p.I562M|C7orf63_ENST00000497910.1_Missense_Mutation_p.I544M	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		562								p.I562I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GAGTAGATATCGTTCTTCATG	0.338																																																	1	Substitution - coding silent(1)	large_intestine(1)											122	113	116					7																	89917577		1827	4082	5909	SO:0001583	missense	0																														ENST00000389297.4:c.1686C>G	7.37:g.89917577C>G	ENSP00000373948:p.Ile562Met		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I562M	ENST00000389297.4	37	c.1686	CCDS43613.2	7	.	.	.	.	.	.	.	.	.	.	A	7.128	0.579327	0.13686	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.62	3.04	0.35103	Armadillo-type fold (1);	0.239076	0.48767	D	0.000178	T	0.47893	0.1470	M	0.64404	1.975	0.26423	N	0.976076	B;P;P	0.47545	0.219;0.897;0.897	B;P;P	0.47376	0.15;0.545;0.545	T	0.44498	-0.9324	10	0.72032	D	0.01	-9.2167	6.6767	0.23098	0.4912:0.2593:0.0:0.2494	.	544;562;562	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	M	562;562;544;445;145	ENSP00000373948:I562M;ENSP00000321753:I562M;ENSP00000419549:I544M;ENSP00000392365:I445M;ENSP00000391571:I145M	ENSP00000321753:I562M	I	+	3	3	C7orf63	89755513	0.810000	0.29049	0.997000	0.53966	0.875000	0.50365	0.492000	0.22435	0.386000	0.24997	-0.335000	0.08231	ATC	C7orf63	-	superfamily_ARM-type_fold	ENSG00000105792		0.338	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	-	0	117	0	C			89917577	1	tier1	-	no_errors	ENST00000389297	ensembl	human	known	74_37	missense	36.69	106	62	SNP	0.997	G	G	89917577	C	G	89917577	3	3	168	1	0	0	0	0	1	0	0	0	2416	874	31	5	1744	5	C7orf63	7	89917577	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	3449291	89917577	69221086	124	42312											
FAM200A	221786	genome.wustl.edu	37	chr7	99145817	99145817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgagccattttctcttttgCcactctatatgcaactaaat	10	16	5	10	0	2	1	0	1	2	0	3	1	2	1	2	0	4	1	2	0	5	7			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:99145817C>G	ENST00000449309.1	-	2	593	c.214G>C	c.(214-216)Gca>Cca	p.A72P		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	72						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						ttctcttttgccactctatat	0.398																																																	0													95	90	91					7																	99145817		2191	4281	6472	SO:0001583	missense	0				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.214G>C	7.37:g.99145817C>G	ENSP00000411372:p.Ala72Pro		A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.A72P	ENST00000449309.1	37	c.214	CCDS5668.1	7	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086583	0.55861	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.49139	0.79;0.79	2.58	2.58	0.30949	.	0.000000	0.37530	N	0.002056	T	0.54398	0.1856	L	0.39245	1.2	0.25055	N	0.991109	D	0.89917	1.0	D	0.75484	0.986	T	0.35126	-0.9801	10	0.72032	D	0.01	.	8.7957	0.34878	0.0:1.0:0.0:0.0	.	72	Q8TCP9	F200A_HUMAN	P	72	ENSP00000411372:A72P;ENSP00000386191:A72P	ENSP00000386191:A72P	A	-	1	0	FAM200A	98983753	0.916000	0.31088	0.998000	0.56505	0.860000	0.49131	2.056000	0.41355	1.741000	0.51731	0.655000	0.94253	GCA	FAM200A	-	NULL	ENSG00000221909		0.398	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM200A	HGNC	protein_coding	OTTHUMT00000345467.1	-	0	46	0	C	NM_145111		99145817	-1	tier1	-	no_errors	ENST00000449309	ensembl	human	known	74_37	missense	17.78	37	8	SNP	1.000	G	G	99145817	C	G	99145817	3	3	168	1	0	0	0	0	1	0	0	0	5555	739	26	5	1511	5	FAM200A	7	99145817	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	9228240	99145817	59992846	125	42313											
TRIM4	89122	genome.wustl.edu	37	chr7	99489970	99489970	+	Missense_Mutation	SNP	T	T	A	0	1	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	ccactcggtggagagctggcTcttgctgggtgggagttcca	5	10	16	10	1	1	1	0	0	1	1	3	3	2	2	2	5	2	4	2	5	0	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:99489970T>A	ENST00000355947.2	-	7	1448	c.1319A>T	c.(1318-1320)gAg>gTg	p.E440V	TRIM4_ENST00000349062.2_Missense_Mutation_p.E414V	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	440	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)				GAGAGCTGGCTCTTGCTGGGT	0.557																																																	0													136	138	137					7																	99489970		2203	4300	6503	SO:0001583	missense	0			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.1319A>T	7.37:g.99489970T>A	ENSP00000348216:p.Glu440Val		A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E440V	ENST00000355947.2	37	c.1319	CCDS5679.1	7	.	.	.	.	.	.	.	.	.	.	T	7.765	0.706223	0.15239	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.70045	-0.45;-0.45	2.64	1.49	0.22878	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.66147	0.2760	L	0.31294	0.92	0.18873	N	0.999982	D;D	0.76494	0.998;0.999	D;D	0.69824	0.943;0.966	T	0.53012	-0.8498	9	0.30078	T	0.28	.	5.9414	0.19196	0.0:0.1384:0.0:0.8616	.	414;440	Q9C037-2;Q9C037	.;TRIM4_HUMAN	V	440;414;270	ENSP00000348216:E440V;ENSP00000275736:E414V	ENSP00000275736:E414V	E	-	2	0	TRIM4	99327906	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.198000	0.09505	0.452000	0.26830	0.533000	0.62120	GAG	TRIM4	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000146833		0.557	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM4	HGNC	protein_coding	OTTHUMT00000345050.1	-	0	44	0	T	NM_033017		99489970	-1	tier1	-	no_errors	ENST00000355947	ensembl	human	known	74_37	missense	28.57	20	8	SNP	0.022	A	A	99489970	T	A	99489970	3	1	168	1	0	0	0	0	1	0	0	0	16562	1551	54	5	187	5	TRIM4	7	99489970	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	344153	99489970	59648693	126	42314											
TSC22D4	81628	genome.wustl.edu	37	chr7	100075404	100075404	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacacgtccagcgaccgcgGcgataaggctctcccaggcc	9	4	11	17	5	1	0	0	0	1	0	3	2	2	0	4	3	1	1	4	3	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:100075404G>T	ENST00000300181.2	-	2	1012	c.258C>A	c.(256-258)cgC>cgA	p.R86R	TSC22D4_ENST00000496728.1_5'Flank|TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	86					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCGACCGCGGCGATAAGGCT	0.692																																																	0													13	14	14					7																	100075404		2141	4150	6291	SO:0001819	synonymous_variant	0			BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.258C>A	7.37:g.100075404G>T			A4D2C3|A8MWR6|D6W5V9	Silent	SNP	pfam_TSC-22_Dip_Bun	p.R86	ENST00000300181.2	37	c.258	CCDS5695.1	7																																																																																			TSC22D4	-	NULL	ENSG00000166925		0.692	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC22D4	HGNC	protein_coding	OTTHUMT00000316970.1		0	79	0	G	NM_030935		100075404	-1			no_errors	ENST00000300181	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.841	T	T	100075404	G	T	100075404	2	4	168	1	0	0	0	0	0	0	0	1	16658	1190	42	3		3	TSC22D4	7	100075404	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	585434	100075404	59063259	127	42315											
LAMB1	3912	genome.wustl.edu	37	chr7	107570034	107570034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatacttcattagcaactGcttcaatgctgtccaaatca	13	13	4	11	0	4	0	4	0	0	0	5	0	5	0	1	0	5	3	1	0	6	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:107570034G>T	ENST00000222399.6	-	30	4798	c.4568C>A	c.(4567-4569)gCa>gAa	p.A1523E	LAMB1_ENST00000393561.1_Missense_Mutation_p.A1547E|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1523	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						ATTAGCAACTGCTTCAATGCT	0.403																																																	0													124	106	112					7																	107570034		2203	4300	6503	SO:0001583	missense	0			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.4568C>A	7.37:g.107570034G>T	ENSP00000222399:p.Ala1523Glu		Q14D91	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.A1523E	ENST00000222399.6	37	c.4568	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227442	0.39399	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.29917	1.55;1.55	5.52	5.52	0.82312	.	.	.	.	.	T	0.27933	0.0688	L	0.41961	1.31	0.80722	D	1	B;B	0.24768	0.025;0.111	B;B	0.28139	0.022;0.086	T	0.10291	-1.0636	9	0.02654	T	1	.	19.6435	0.95767	0.0:0.0:1.0:0.0	.	1523;1547	P07942;G3XAI2	LAMB1_HUMAN;.	E	1547;1523	ENSP00000377191:A1547E;ENSP00000222399:A1523E	ENSP00000222399:A1523E	A	-	2	0	LAMB1	107357270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.538000	0.53597	2.866000	0.98385	0.650000	0.86243	GCA	LAMB1	-	NULL	ENSG00000091136		0.403	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1		0	48	0	G	NM_002291		107570034	-1			no_errors	ENST00000222399	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.996	T	T	107570034	G	T	107570034	3	4	168	1	0	0	0	0	1	0	0	0	8638	1319	46	3	812	3	LAMB1	7	107570034	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	7494630	107570034	51568629	128	42316											
SLC13A1	6561	genome.wustl.edu	37	chr7	122774551	122774551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggaaaacgtaaaccatgatCcaaagttgaggcaacgacag	18	5	10	8	2	0	2	0	2	0	0	1	4	1	3	2	2	3	3	2	2	6	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:122774551C>G	ENST00000194130.2	-	8	884	c.845G>C	c.(844-846)gGa>gCa	p.G282A	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	282					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)	AAACCATGATCCAAAGTTGAG	0.448																																																	0													183	146	158					7																	122774551		2203	4300	6503	SO:0001583	missense	0				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.845G>C	7.37:g.122774551C>G	ENSP00000194130:p.Gly282Ala		Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.G282A	ENST00000194130.2	37	c.845	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599225	0.28534	.	.	ENSG00000081800	ENST00000194130	T	0.02421	4.3	5.72	5.72	0.89469	.	0.047313	0.85682	D	0.000000	T	0.07728	0.0194	L	0.35723	1.085	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71414	0.973;0.973	T	0.30238	-0.9985	10	0.02654	T	1	-25.3213	17.7332	0.88384	0.0:1.0:0.0:0.0	.	282;282	A4D0X1;Q9BZW2	.;S13A1_HUMAN	A	282	ENSP00000194130:G282A	ENSP00000194130:G282A	G	-	2	0	SLC13A1	122561787	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.919000	0.70005	2.865000	0.98341	0.655000	0.94253	GGA	SLC13A1	-	pfam_Na/sul_symport	ENSG00000081800		0.448	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	-	0	104	0	C	NM_022444		122774551	-1	tier1	-	no_errors	ENST00000194130	ensembl	human	known	74_37	missense	21.30	85	23	SNP	1.000	G	G	122774551	C	G	122774551	3	3	168	1	0	0	0	0	1	0	0	0	14436	855	30	5	974	5	SLC13A1	7	122774551	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	15204517	122774551	36364112	129	42317											
CALD1	800	genome.wustl.edu	37	chr7	134613566	134613566	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cccgggaacggcgccgccgaGcccgacaggaacggctgcgg	7	1	17	16	8	0	0	0	0	0	0	0	4	0	2	4	5	4	1	4	5	2	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:134613566G>T	ENST00000361675.2	+	4	362	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	CALD1_ENST00000422748.1_Missense_Mutation_p.A45S|CALD1_ENST00000543443.1_Missense_Mutation_p.A50S|CALD1_ENST00000361901.2_Missense_Mutation_p.A45S|CALD1_ENST00000424922.1_Missense_Mutation_p.A39S|CALD1_ENST00000393118.2_Missense_Mutation_p.A39S|CALD1_ENST00000361388.2_Missense_Mutation_p.A45S|CALD1_ENST00000495522.1_Missense_Mutation_p.A39S|CALD1_ENST00000417172.1_Missense_Mutation_p.A45S			Q05682	CALD1_HUMAN	caldesmon 1	45	Myosin and calmodulin-binding. {ECO:0000250}.|Poly-Arg.				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						GCGCCGCCGAGCCCGACAGGA	0.577																																																	0													51	48	49					7																	134613566		2203	4300	6503	SO:0001583	missense	0			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.133G>T	7.37:g.134613566G>T	ENSP00000354826:p.Ala45Ser		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.A45S	ENST00000361675.2	37	c.133	CCDS5835.1	7	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695714	0.88830	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000454108;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000435928;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;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;0.69;0.69;0.69;0.69;0.69	5.55	5.55	0.83447	.	0.000000	0.45126	D	0.000387	T	0.69233	0.3088	M	0.77103	2.36	0.48511	D	0.999668	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	0.87578	0.996;0.998;0.996;0.996;0.996;0.996;0.998;0.998	T	0.65681	-0.6109	10	0.26408	T	0.33	-12.8911	17.6838	0.88251	0.0:0.0:1.0:0.0	.	50;45;39;39;45;45;45;45	F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;CALD1_HUMAN;.	S	45;45;45;45;45;45;45;59;45;39;39;39;50	ENSP00000398826:A45S;ENSP00000411476:A45S;ENSP00000355000:A45S;ENSP00000395710:A45S;ENSP00000401988:A45S;ENSP00000354826:A45S;ENSP00000354513:A45S;ENSP00000390926:A59S;ENSP00000416611:A45S;ENSP00000376826:A39S;ENSP00000393621:A39S;ENSP00000419673:A39S;ENSP00000445641:A50S	ENSP00000355000:A45S	A	+	1	0	CALD1	134264106	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	6.517000	0.73759	2.600000	0.87896	0.561000	0.74099	GCC	CALD1	-	pfam_Caldesmon_LSP	ENSG00000122786		0.577	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1	-	0	48	0	G	NM_033138		134613566	1	tier1	-	no_errors	ENST00000361388	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	134613566	G	T	134613566	3	4	168	1	0	0	0	0	1	0	0	0	2588	971	34	3	196	3	CALD1	7	134613566	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	11839015	134613566	24525097	130	42318											
CNTNAP2	26047	genome.wustl.edu	37	chr7	147183046	147183046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtgtgcccaatcactgtGagcatggtggaaagtgctcg	9	10	14	8	1	1	1	1	1	0	0	2	3	1	2	1	2	3	2	1	2	2	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr7:147183046G>A	ENST00000361727.3	+	11	2206	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	564	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			CAATCACTGTGAGCATGGTGG	0.468										HNSCC(39;0.1)																																							0													189	170	177					7																	147183046		2203	4300	6503	SO:0001583	missense	0			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.1690G>A	7.37:g.147183046G>A	ENSP00000354778:p.Glu564Lys		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E564K	ENST00000361727.3	37	c.1690	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.282336	0.95489	.	.	ENSG00000174469	ENST00000361727	D	0.91996	-2.95	5.88	5.88	0.94601	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000004	D	0.94424	0.8206	L	0.41961	1.31	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93494	0.6838	10	0.41790	T	0.15	.	18.8161	0.92077	0.0:0.0:1.0:0.0	.	564	Q9UHC6	CNTP2_HUMAN	K	564	ENSP00000354778:E564K	ENSP00000354778:E564K	E	+	1	0	CNTNAP2	146813979	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.728000	0.98792	2.779000	0.95612	0.650000	0.86243	GAG	CNTNAP2	-	pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000174469		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	-	0	74	0	G			147183046	1	tier1	-	no_errors	ENST00000361727	ensembl	human	known	74_37	missense	10.45	60	7	SNP	1.000	A	A	147183046	G	A	147183046	3	1	168	1	0	0	0	0	1	0	0	0	3654	1291	45	3	1732	3	CNTNAP2	7	147183046	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	12569480	147183046	11955617	131	42319											
MYOM2	9172	genome.wustl.edu	37	chr8	2048834	2048834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagacgacaacagccaaccGttatttaaaggtaagtcttg	14	10	8	9	2	2	1	1	0	1	1	2	2	2	1	2	1	3	2	2	1	6	5	rs144235879		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr8:2048834G>A	ENST00000262113.4	+	20	2750	c.2609G>A	c.(2608-2610)cGt>cAt	p.R870H	MYOM2_ENST00000523438.1_Missense_Mutation_p.R295H	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	870	Fibronectin type-III 5. {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)		ACAGCCAACCGTTATTTAAAG	0.527																																																	0								G	HIS/ARG	0,4406		0,0,2203	60	65	63		2609	5.6	0.2	8	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYOM2	NM_003970.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	870/1466	2048834	1,13005	2203	4300	6503	SO:0001583	missense	0				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.2609G>A	8.37:g.2048834G>A	ENSP00000262113:p.Arg870His		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R870H	ENST00000262113.4	37	c.2609	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324318	0.24080	0.0	1.16E-4	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.54279	0.58;0.58	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.62016	1.91	0.58432	D	0.999993	B	0.22146	0.065	B	0.27500	0.08	T	0.50432	-0.8829	10	0.32370	T	0.25	.	19.488	0.95037	0.0:0.0:1.0:0.0	.	870	P54296	MYOM2_HUMAN	H	870;295	ENSP00000262113:R870H;ENSP00000428396:R295H	ENSP00000262113:R870H	R	+	2	0	MYOM2	2036241	1.000000	0.71417	0.155000	0.22561	0.018000	0.09664	5.112000	0.64634	2.618000	0.88619	0.643000	0.83706	CGT	MYOM2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000036448		0.527	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1		0	49	0	G	NM_003970		2048834	1			no_errors	ENST00000262113	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.997	A	A	2048834	G	A	2048834	3	1	168	1	0	0	0	0	1	0	0	0	10130	1145	40	1	2683	1	MYOM2	8	2048834	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09		2048834	144315188	132	42320											
DUSP4	1846	genome.wustl.edu	37	chr8	29195866	29195866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttatcttccactgggatGcacttgtactgatagtgtcc	7	15	10	9	0	1	1	0	1	1	0	3	2	3	2	2	2	2	3	2	2	3	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr8:29195866G>A	ENST00000240100.2	-	3	1121	c.732C>T	c.(730-732)tgC>tgT	p.C244C	DUSP4_ENST00000240101.2_Silent_p.C153C	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	244	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)		CCACTGGGATGCACTTGTACT	0.557																																																	0													193	156	168					8																	29195866		2203	4300	6503	SO:0001819	synonymous_variant	0			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.732C>T	8.37:g.29195866G>A			B2RBU5|D3DSU4|G5E930|Q13524	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.C244	ENST00000240100.2	37	c.732	CCDS6072.1	8																																																																																			DUSP4	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	ENSG00000120875		0.557	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP4	HGNC	protein_coding	OTTHUMT00000257249.1		0	65	0	G	NM_001394		29195866	-1			no_errors	ENST00000240100	ensembl	human	known	74_37	silent	5.88	48	3	SNP	1.000	A	A	29195866	G	A	29195866	2	1	168	1	0	0	0	0	0	0	0	1	4841	1311	46	3		3	DUSP4	8	29195866	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	27147032	29195866	117168156	133	42321											
NRG1	3084	genome.wustl.edu	37	chr8	32621461	32621461	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccaccaaggctgcgggaGaagaagtttgaccatcaccc	13	5	10	13	1	1	3	1	1	0	2	1	4	1	3	4	2	1	2	4	2	3	1	rs114216543		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr8:32621461G>A	ENST00000405005.3	+	12	1464	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E	RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Silent_p.E493E|NRG1_ENST00000539990.1_Silent_p.E331E|NRG1_ENST00000338921.4_Silent_p.E496E|NRG1_ENST00000287845.5_Silent_p.E459E|NRG1_ENST00000287842.3_Silent_p.E485E|NRG1_ENST00000519301.1_Silent_p.E438E			Q02297	NRG1_HUMAN	neuregulin 1	488					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)		GGCTGCGGGAGAAGAAGTTTG	0.577																																																	0													143	108	120					8																	32621461		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1464G>A	8.37:g.32621461G>A			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	Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.E496	ENST00000405005.3	37	c.1488	CCDS6085.1	8																																																																																			NRG1	-	pfam_Neuregulin_1_C	ENSG00000157168		0.577	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1		0	70	0	G			32621461	1			no_errors	ENST00000338921	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.929	A	A	32621461	G	A	32621461	2	1	168	1	0	0	0	0	0	0	0	1	10686	933	33	3		3	NRG1	8	32621461	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	3425595	32621461	113742561	134	42322											
RRS1	23212	genome.wustl.edu	37	chr8	67341947	67341947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaccggctgcgtaacctggCccgcgcgcacaagatgcagc	9	4	13	15	5	0	1	0	0	0	1	0	2	0	1	3	2	5	4	3	2	3	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr8:67341947C>T	ENST00000320270.2	+	1	685	c.581C>T	c.(580-582)gCc>gTc	p.A194V	ADHFE1_ENST00000396623.3_5'Flank|RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000379385.4_5'Flank|ADHFE1_ENST00000415254.1_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	194					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CGTAACCTGGCCCGCGCGCAC	0.657																																																	0													20	24	22					8																	67341947		2186	4272	6458	SO:0001583	missense	0			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.581C>T	8.37:g.67341947C>T	ENSP00000322396:p.Ala194Val		Q9BUX8	Missense_Mutation	SNP	pfam_Ribosom_reg	p.A194V	ENST00000320270.2	37	c.581	CCDS6189.1	8	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459726	0.84317	.	.	ENSG00000179041	ENST00000320270	D	0.86230	-2.09	5.78	4.91	0.64330	.	0.049298	0.85682	N	0.000000	D	0.91533	0.7326	M	0.71581	2.175	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	D	0.90387	0.4392	10	0.34782	T	0.22	-12.439	12.3839	0.55322	0.0:0.9189:0.0:0.0811	.	194	Q15050	RRS1_HUMAN	V	194	ENSP00000322396:A194V	ENSP00000322396:A194V	A	+	2	0	RRS1	67504501	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.086000	0.76885	1.453000	0.47775	0.650000	0.86243	GCC	RRS1	-	NULL	ENSG00000179041		0.657	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRS1	HGNC	protein_coding	OTTHUMT00000380126.1	-	0	59	0	C	NM_015169		67341947	1	tier1	-	no_errors	ENST00000320270	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	T	T	67341947	C	T	67341947	3	4	168	1	0	0	0	0	1	0	0	0	13737	739	26	3	583	3	RRS1	8	67341947	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	34720486	67341947	79022075	135	42323											
EYA1	2138	genome.wustl.edu	37	chr8	72181986	72181986	+	Missense_Mutation	SNP	T	T	C	0	1	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	ggtactcaccctcccatatcTgttggcgtaggacccagtaa	9	10	9	13	1	2	0	1	0	1	0	3	1	3	1	3	3	1	4	3	3	4	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr8:72181986T>C	ENST00000340726.3	-	11	1678	c.1039A>G	c.(1039-1041)Aga>Gga	p.R347G	EYA1_ENST00000388742.4_Missense_Mutation_p.R347G|EYA1_ENST00000388741.2_Missense_Mutation_p.R313G|EYA1_ENST00000388740.3_Missense_Mutation_p.R314G|EYA1_ENST00000419131.1_Missense_Mutation_p.R342G|EYA1_ENST00000388743.2_Missense_Mutation_p.R346G|EYA1_ENST00000303824.7_Missense_Mutation_p.R341G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	347					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)			CTCCCATATCTGTTGGCGTAG	0.368																																																	0													144	133	137					8																	72181986		2203	4300	6503	SO:0001583	missense	0			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.1039A>G	8.37:g.72181986T>C	ENSP00000342626:p.Arg347Gly		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.R347G	ENST00000340726.3	37	c.1039	CCDS34906.1	8	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054663	0.75960	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.86	5.86	0.93980	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	L	0.37697	1.125	0.80722	D	1	D;P;P;D;P	0.76494	0.998;0.915;0.915;0.999;0.837	P;P;P;D;P	0.75020	0.881;0.497;0.497;0.985;0.457	D	0.88063	0.2795	10	0.59425	D	0.04	-24.2839	16.2479	0.82454	0.0:0.0:0.0:1.0	.	341;274;314;347;342	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	G	347;347;315;314;341;313;346;342	ENSP00000373394:R347G;ENSP00000342626:R347G;ENSP00000373392:R314G;ENSP00000303221:R341G;ENSP00000373393:R313G;ENSP00000373395:R346G;ENSP00000410176:R342G	ENSP00000303221:R341G	R	-	1	2	EYA1	72344540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.800000	0.55537	2.241000	0.73720	0.533000	0.62120	AGA	EYA1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000104313		0.368	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	-	0	75	0	T	NM_000503, NM_172060		72181986	-1	tier1	-	no_errors	ENST00000340726	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	C	C	72181986	T	C	72181986	3	2	168	1	0	0	0	0	1	0	0	0	5344	1588	55	4	771	4	EYA1	8	72181986	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	4840039	72181986	74182036	136	42324											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110456047	110456047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttttcaccatctataagCaacattactccgtccactgg	10	14	5	12	1	2	0	1	0	1	0	4	0	4	0	3	1	3	2	3	1	4	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr8:110456047C>A	ENST00000378402.5	+	37	4811	c.4707C>A	c.(4705-4707)agC>agA	p.S1569R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1569	IPT/TIG 8.				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)			CATCTATAAGCAACATTACTC	0.368										HNSCC(38;0.096)																																							0													109	105	106					8																	110456047		1831	4076	5907	SO:0001583	missense	0			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.4707C>A	8.37:g.110456047C>A	ENSP00000367655:p.Ser1569Arg		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.S1569R	ENST00000378402.5	37	c.4707	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	8.050	0.765802	0.15983	.	.	ENSG00000205038	ENST00000378402	T	0.78246	-1.16	5.87	3.1	0.35709	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.538526	0.21234	N	0.077931	T	0.68467	0.3004	L	0.40543	1.245	0.22835	N	0.998676	B	0.12630	0.006	B	0.23716	0.048	T	0.58405	-0.7642	10	0.37606	T	0.19	.	10.3157	0.43736	0.0:0.7706:0.0:0.2294	.	1569	Q86WI1	PKHL1_HUMAN	R	1569	ENSP00000367655:S1569R	ENSP00000367655:S1569R	S	+	3	2	PKHD1L1	110525223	0.264000	0.24093	0.998000	0.56505	0.822000	0.46500	1.567000	0.36407	0.951000	0.37770	0.655000	0.94253	AGC	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	99	0	C	NM_177531		110456047	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	12.20	72	10	SNP	0.985	A	A	110456047	C	A	110456047	3	1	168	1	0	0	0	0	1	0	0	0	12011	709	25	3	4853	3	PKHD1L1	8	110456047	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	38274061	110456047	35907975	137	42325											
FBXL6	26233	genome.wustl.edu	37	chr8	145580145	145580145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtccgggagccacccctCgtcccggaggcttgggcagc	4	6	15	16	3	0	0	0	0	0	0	3	2	2	2	5	5	2	2	5	5	0	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr8:145580145C>T	ENST00000331890.5	-	7	1104	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	SLC52A2_ENST00000402965.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.R341Q|SLC52A2_ENST00000527078.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|FBXL6_ENST00000526524.1_5'UTR|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	347					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCCACCCCTCGTCCCGGAGG	0.652																																																	0													33	39	37					8																	145580145		2202	4300	6502	SO:0001583	missense	0			AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1040G>A	8.37:g.145580145C>T	ENSP00000330098:p.Arg347Gln		Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp	p.R347Q	ENST00000331890.5	37	c.1040	CCDS6422.1	8	.	.	.	.	.	.	.	.	.	.	C	3.857	-0.030654	0.07543	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.16457	5.52;2.34	4.92	2.9	0.33743	.	0.247112	0.33610	N	0.004728	T	0.09862	0.0242	N	0.24115	0.695	0.09310	N	1	B;B	0.19935	0.024;0.04	B;B	0.10450	0.002;0.005	T	0.31586	-0.9938	10	0.25106	T	0.35	-7.1819	7.4129	0.27027	0.0:0.7749:0.0:0.2251	.	347;341	Q8N531;Q8N531-2	FBXL6_HUMAN;.	Q	341;347	ENSP00000403873:R341Q;ENSP00000330098:R347Q	ENSP00000330098:R347Q	R	-	2	0	FBXL6	145550953	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	0.985000	0.29578	0.352000	0.24053	0.563000	0.77884	CGA	FBXL6	-	NULL	ENSG00000182325		0.652	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL6	HGNC	protein_coding	OTTHUMT00000382413.1	-	0	64	0	C	NM_024555		145580145	-1	tier1	-	no_errors	ENST00000331890	ensembl	human	known	74_37	missense	11.27	63	8	SNP	0.003	T	T	145580145	C	T	145580145	3	4	168	1	0	0	0	0	1	0	0	0	5745	884	31	1	591	1	FBXL6	8	145580145	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	35124098	145580145	783877	138	42326											
DMRT1	1761	genome.wustl.edu	37	chr9	916804	916804	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgcaatgagctcccagtaCaggatgcattcttactaccc	11	10	7	13	0	1	1	0	1	1	0	2	2	2	2	2	1	6	4	2	1	4	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:916804C>A	ENST00000382276.3	+	4	1013	c.864C>A	c.(862-864)taC>taA	p.Y288*	DMRT1_ENST00000569227.1_Nonsense_Mutation_p.Y130*	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	288					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GCTCCCAGTACAGGATGCATT	0.488																																																	0													157	135	142					9																	916804		2203	4300	6503	SO:0001587	stop_gained	0			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.864C>A	9.37:g.916804C>A	ENSP00000371711:p.Tyr288*		B2R913|Q6T1H8|Q6T1H9|Q8IW77	Nonsense_Mutation	SNP	pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.Y288*	ENST00000382276.3	37	c.864	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.591971	0.97688	.	.	ENSG00000137090	ENST00000382276	.	.	.	5.44	3.57	0.40892	.	0.158249	0.42682	D	0.000678	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8383	0.46700	0.0:0.8462:0.0:0.1538	.	.	.	.	X	288	.	ENSP00000371711:Y288X	Y	+	3	2	DMRT1	906804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.770000	0.38532	1.433000	0.47394	0.655000	0.94253	TAC	DMRT1	-	NULL	ENSG00000137090		0.488	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	HGNC	protein_coding	OTTHUMT00000051489.2		0	52	0	C	NM_021951		916804	1			no_errors	ENST00000382276	ensembl	human	known	74_37	nonsense	7.89	35	3	SNP	1.000	A	A	916804	C	A	916804	4	1	168	1	0	0	0	0	0	1	0	0	4599	489	17	3	878	3	DMRT1	9	916804	Nonsense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09		916804	140296627	139	42327											
GLIS3	169792	genome.wustl.edu	37	chr9	4118563	4118563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	atgccatcggacagcggggaCaaggacagcgctctcttctt	9	8	12	12	3	2	0	0	0	2	0	4	3	2	3	1	4	3	1	1	4	1	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:4118563C>A	ENST00000324333.10	-	3	643	c.450G>T	c.(448-450)ttG>ttT	p.L150F	GLIS3_ENST00000381971.3_Missense_Mutation_p.L305F	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	150	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ACAGCGGGGACAAGGACAGCG	0.597																																																	0													111	98	102					9																	4118563		2203	4300	6503	SO:0001583	missense	0			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.450G>T	9.37:g.4118563C>A	ENSP00000325494:p.Leu150Phe		B1AL19|Q1PHK5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L305F	ENST00000324333.10	37	c.915	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312253	0.40895	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.12465	2.72;2.68	5.59	3.66	0.41972	.	0.000000	0.39274	N	0.001404	T	0.30230	0.0758	M	0.70595	2.14	0.41676	D	0.989267	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.916	T	0.00834	-1.1547	10	0.46703	T	0.11	.	8.7132	0.34395	0.1147:0.7068:0.1116:0.0669	.	305;150	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	F	150;305	ENSP00000325494:L150F;ENSP00000371398:L305F	ENSP00000325494:L150F	L	-	3	2	GLIS3	4108563	0.947000	0.32204	1.000000	0.80357	0.180000	0.23129	0.293000	0.19029	2.633000	0.89246	0.655000	0.94253	TTG	GLIS3	-	NULL	ENSG00000107249		0.597	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	-	0	72	0	C	NM_152629		4118563	-1	tier1	-	no_errors	ENST00000381971	ensembl	human	known	74_37	missense	27.91	31	12	SNP	1.000	A	A	4118563	C	A	4118563	3	1	168	1	0	0	0	0	1	0	0	0	6473	477	17	3	1909	3	GLIS3	9	4118563	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	3201759	4118563	137094868	140	42328											
VCP	7415	genome.wustl.edu	37	chr9	35060315	35060315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctattgtagctcaccttgtCaaagatttctctgacattgg	9	15	7	10	0	3	2	2	1	1	1	4	2	3	2	2	1	1	2	2	1	3	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:35060315C>T	ENST00000358901.6	-	13	2585	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	564					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)			CTCACCTTGTCAAAGATTTCT	0.448																																																	0													49	46	47					9																	35060315		2203	4300	6503	SO:0001583	missense	0			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.1690G>A	9.37:g.35060315C>T	ENSP00000351777:p.Asp564Asn		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.D564N	ENST00000358901.6	37	c.1690	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.193453	0.94960	.	.	ENSG00000165280	ENST00000358901	D	0.92911	-3.13	5.85	5.85	0.93711	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.89880	0.6843	N	0.20685	0.6	0.80722	D	1	B	0.28439	0.212	B	0.39217	0.294	D	0.87188	0.2232	10	0.56958	D	0.05	-30.5691	20.1577	0.98120	0.0:1.0:0.0:0.0	.	564	P55072	TERA_HUMAN	N	564	ENSP00000351777:D564N	ENSP00000351777:D564N	D	-	1	0	VCP	35050315	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	GAC	VCP	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.448	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1		0	47	0	C	NM_007126		35060315	-1			no_errors	ENST00000358901	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	35060315	C	T	35060315	3	4	168	1	0	0	0	0	1	0	0	0	17189	826	29	3	750	3	VCP	9	35060315	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	30941752	35060315	106153116	141	42329											
GDA	9615	genome.wustl.edu	37	chr9	74828843	74828843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgggcaaagtttgcatgGatttgaatgacacttttcca	10	15	10	6	0	0	2	0	2	0	0	1	3	1	3	1	2	1	3	1	2	2	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:74828843G>T	ENST00000358399.3	+	5	607	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	GDA_ENST00000238018.4_Missense_Mutation_p.D172Y|GDA_ENST00000376986.1_Missense_Mutation_p.D130Y|GDA_ENST00000376989.3_Missense_Mutation_p.D147Y|GDA_ENST00000545168.1_Missense_Mutation_p.D98Y|GDA_ENST00000477618.1_3'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	172					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)	p.D172Y(2)		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)		AGTTTGCATGGATTTGAATGA	0.378																																																	2	Substitution - Missense(2)	endometrium(2)											138	133	134					9																	74828843		2203	4300	6503	SO:0001583	missense	0			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.514G>T	9.37:g.74828843G>T	ENSP00000351170:p.Asp172Tyr		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.D172Y	ENST00000358399.3	37	c.514	CCDS6641.1	9	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658625	0.67586	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	5.64	4.75	0.60458	Amidohydrolase 1 (1);	0.042895	0.85682	D	0.000000	D	0.97390	0.9146	H	0.97051	3.93	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.98459	1.0595	10	0.87932	D	0	-24.3511	14.5061	0.67752	0.0714:0.0:0.9286:0.0	.	130;172;172	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	Y	98;172;147;130;172	ENSP00000437972:D98Y;ENSP00000238018:D172Y;ENSP00000366188:D147Y;ENSP00000366185:D130Y;ENSP00000351170:D172Y	ENSP00000238018:D172Y	D	+	1	0	GDA	74018663	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.423000	0.66458	1.400000	0.46741	-0.194000	0.12790	GAT	GDA	-	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	ENSG00000119125		0.378	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	-	0	103	0	G			74828843	1	tier1	-	no_errors	ENST00000238018	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	74828843	G	T	74828843	3	4	168	1	0	0	0	0	1	0	0	0	6331	1174	41	3	532	3	GDA	9	74828843	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	39768528	74828843	66384588	142	42330											
KIF27	55582	genome.wustl.edu	37	chr9	86504111	86504111	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaacagcatctgacttcGtgttcgaaatccagcaaata	14	9	6	12	2	1	1	0	1	1	0	4	2	2	1	2	0	3	3	2	0	4	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:86504111G>A	ENST00000297814.2	-	7	2010	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*	KIF27_ENST00000376347.1_Nonsense_Mutation_p.R14*|KIF27_ENST00000334204.2_Nonsense_Mutation_p.R623*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.R623*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	623					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						ATCTGACTTCGTGTTCGAAAT	0.428																																																	0													159	157	158					9																	86504111		2203	4300	6503	SO:0001587	stop_gained	0			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.1867C>T	9.37:g.86504111G>A	ENSP00000297814:p.Arg623*		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R623*	ENST00000297814.2	37	c.1867	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	G	41	9.049464	0.99048	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	.	.	.	4.85	4.85	0.62838	.	0.000000	0.44097	U	0.000492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3352	0.90285	0.0:0.0:1.0:0.0	.	.	.	.	X	623;623;623;14	.	ENSP00000297814:R623X	R	-	1	2	KIF27	85693931	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.685000	0.68204	2.407000	0.81776	0.557000	0.71058	CGA	KIF27	-	NULL	ENSG00000165115		0.428	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	-	0	102	0	G	NM_017576		86504111	-1	tier1	-	no_errors	ENST00000297814	ensembl	human	known	74_37	nonsense	31.63	67	31	SNP	1.000	A	A	86504111	G	A	86504111	4	1	168	1	0	0	0	0	0	1	0	0	8323	1153	40	1	2386	1	KIF27	9	86504111	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	11675268	86504111	54709320	143	42331											
NANS	54187	genome.wustl.edu	37	chr9	100823111	100823111	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagagtgagctagaattCaagtttaatcggaaagcctt	15	10	10	6	1	1	4	1	1	0	3	2	5	1	5	1	1	2	2	1	1	6	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:100823111C>G	ENST00000210444.5	+	2	250	c.180C>G	c.(178-180)ttC>ttG	p.F60L		NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	60					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				AGCTAGAATTCAAGTTTAATC	0.473																																																	0													163	166	165					9																	100823111		2203	4300	6503	SO:0001583	missense	0			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.180C>G	9.37:g.100823111C>G	ENSP00000210444:p.Phe60Leu		B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III	p.F60L	ENST00000210444.5	37	c.180	CCDS6733.1	9	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529921	0.27387	.	.	ENSG00000095380	ENST00000210444	T	0.40225	1.04	5.73	2.75	0.32379	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.337819	0.37393	N	0.002119	T	0.12008	0.0292	N	0.00496	-1.435	0.33652	D	0.608606	B	0.13594	0.008	B	0.23275	0.045	T	0.17258	-1.0375	10	0.11794	T	0.64	-9.4905	8.9517	0.35792	0.0:0.7443:0.0:0.2557	.	60	Q9NR45	SIAS_HUMAN	L	60	ENSP00000210444:F60L	ENSP00000210444:F60L	F	+	3	2	NANS	99862932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.763000	0.38461	0.817000	0.34445	0.655000	0.94253	TTC	NANS	-	pfam_Neu5Ac_N	ENSG00000095380		0.473	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANS	HGNC	protein_coding	OTTHUMT00000053359.1		0	46	0	C	NM_018946		100823111	1			no_errors	ENST00000210444	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	G	G	100823111	C	G	100823111	3	3	168	1	0	0	0	0	1	0	0	0	10193	825	29	5	186	5	NANS	9	100823111	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	14319000	100823111	40390320	144	42332											
ZNF189	7743	genome.wustl.edu	37	chr9	104170480	104170480	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtaaaagaccaaactcaGaagagaaatgccataaatgt	19	7	7	8	1	1	3	1	0	0	3	2	4	2	3	3	0	2	1	3	0	7	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:104170480G>T	ENST00000339664.2	+	3	559	c.430G>T	c.(430-432)Gaa>Taa	p.E144*	ZNF189_ENST00000374861.3_Nonsense_Mutation_p.E130*|ZNF189_ENST00000259395.4_Nonsense_Mutation_p.E102*	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	144					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ACCAAACTCAGAAGAGAAATG	0.408																																																	0													68	66	67					9																	104170480		2203	4300	6503	SO:0001587	stop_gained	0			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.430G>T	9.37:g.104170480G>T	ENSP00000342019:p.Glu144*		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E144*	ENST00000339664.2	37	c.430	CCDS6754.1	9	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803829	0.90623	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	.	.	.	4.66	4.66	0.58398	.	0.000000	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	15.8687	0.79091	0.0:0.0:1.0:0.0	.	.	.	.	X	130;144;102	.	ENSP00000259395:E102X	E	+	1	0	ZNF189	103210301	0.825000	0.29262	1.000000	0.80357	0.971000	0.66376	0.923000	0.28757	2.873000	0.98535	0.563000	0.77884	GAA	ZNF189	-	NULL	ENSG00000136870		0.408	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF189	HGNC	protein_coding	OTTHUMT00000053447.1	-	0	51	0	G	NM_003452		104170480	1	tier1	-	no_errors	ENST00000339664	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	T	T	104170480	G	T	104170480	4	4	168	1	0	0	0	0	0	1	0	0	17802	943	33	3	440	3	ZNF189	9	104170480	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	3347369	104170480	37042951	145	42333											
SVEP1	79987	genome.wustl.edu	37	chr9	113170469	113170469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtagtatttcccaccaattCaaagcctggcttgcaggtat	10	12	9	10	0	1	0	1	0	0	0	2	0	2	0	3	3	2	5	3	3	5	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:113170469C>T	ENST00000401783.2	-	38	7747	c.7411G>A	c.(7411-7413)Gaa>Aaa	p.E2471K	SVEP1_ENST00000297826.5_Missense_Mutation_p.E397K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2448K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2471	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCACCAATTCAAAGCCTGGC	0.473																																																	0													61	60	60					9																	113170469		1918	4135	6053	SO:0001583	missense	0			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.7411G>A	9.37:g.113170469C>T	ENSP00000384917:p.Glu2471Lys		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.E2471K	ENST00000401783.2	37	c.7411	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704313	0.68615	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.63913	-0.07;-0.07;-0.07	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.093226	0.64402	D	0.000001	T	0.70911	0.3278	L	0.47716	1.5	0.80722	D	1	D	0.61080	0.989	P	0.62298	0.9	T	0.61903	-0.6967	10	0.10636	T	0.68	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	2471	Q4LDE5	SVEP1_HUMAN	K	2471;2448;397;143	ENSP00000384917:E2471K;ENSP00000363593:E2448K;ENSP00000297826:E397K	ENSP00000297826:E397K	E	-	1	0	SVEP1	112210290	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.812000	0.55628	2.767000	0.95098	0.655000	0.94253	GAA	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.473	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding			0	23	0	C			113170469	-1			no_errors	ENST00000401783	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	113170469	C	T	113170469	3	4	168	1	0	0	0	0	1	0	0	0	15467	835	29	3	3348	3	SVEP1	9	113170469	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	8999989	113170469	28042962	146	42334											
UGCG	7357	genome.wustl.edu	37	chr9	114695254	114695254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattacgctgtgggggtacaGcagaggaaatcctagatgta	12	9	14	6	1	0	2	0	0	0	2	1	4	1	3	1	3	3	4	1	3	5	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:114695254G>A	ENST00000374279.3	+	9	1612	c.1162G>A	c.(1162-1164)Gca>Aca	p.A388T	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	388					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TGGGGGTACAGCAGAGGAAAT	0.353																																																	0													72	67	69					9																	114695254		2203	4300	6503	SO:0001583	missense	0			D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"Glycosyltransferase family 2 domain containing"	12524	protein-coding gene	gene with protein product	"glucosylceramide synthase", "ceramide glucosyltransferase"	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.1162G>A	9.37:g.114695254G>A	ENSP00000363397:p.Ala388Thr		Q5T258	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.A388T	ENST00000374279.3	37	c.1162	CCDS6782.1	9	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354689	0.82243	.	.	ENSG00000148154	ENST00000374279	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.68604	0.3019	L	0.54323	1.7	0.80722	D	1	P	0.49961	0.93	P	0.49887	0.625	T	0.66650	-0.5870	9	0.40728	T	0.16	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	388	Q16739	CEGT_HUMAN	T	388	.	ENSP00000363397:A388T	A	+	1	0	UGCG	113735075	1.000000	0.71417	0.984000	0.44739	0.985000	0.73830	9.476000	0.97823	2.706000	0.92434	0.563000	0.77884	GCA	UGCG	-	NULL	ENSG00000148154		0.353	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGCG	HGNC	protein_coding	OTTHUMT00000053661.1	-	0	79	0	G	NM_003358		114695254	1	tier1	-	no_errors	ENST00000374279	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	114695254	G	A	114695254	3	1	168	1	0	0	0	0	1	0	0	0	16988	971	34	3	1196	3	UGCG	9	114695254	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1524785	114695254	26518177	147	42335											
TNC	3371	genome.wustl.edu	37	chr9	117792627	117792627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtagaggccagaggtcGtgtctccattcagcattgct	7	12	13	9	1	2	2	1	0	1	2	4	2	2	2	2	3	2	3	2	3	1	3	rs373428721		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:117792627G>A	ENST00000350763.4	-	24	6389	c.5978C>T	c.(5977-5979)aCg>aTg	p.T1993M	TNC_ENST00000537320.1_Missense_Mutation_p.T1356M|TNC_ENST00000423613.2_Missense_Mutation_p.T1720M|TNC_ENST00000535648.1_Missense_Mutation_p.T1538M|TNC_ENST00000341037.4_Missense_Mutation_p.T1811M|TNC_ENST00000542877.1_Missense_Mutation_p.T1630M|TNC_ENST00000340094.3_Missense_Mutation_p.T1629M|TNC_ENST00000345230.3_Missense_Mutation_p.T1356M|TNC_ENST00000346706.3_Missense_Mutation_p.T1447M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1993	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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						GCCAGAGGTCGTGTCTCCATT	0.517																																																	0								G	MET/THR	0,4406		0,0,2203	142	119	127		5978	5.3	1	9		127	2,8598	2.2+/-6.3	0,2,4298	no	missense	TNC	NM_002160.3	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1993/2202	117792627	2,13004	2203	4300	6503	SO:0001583	missense	0				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.5978C>T	9.37:g.117792627G>A	ENSP00000265131:p.Thr1993Met		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.T1993M	ENST00000350763.4	37	c.5978	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332949	0.81801	0.0	2.33E-4	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;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;-1.09	5.35	5.35	0.76521	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.209840	0.49305	D	0.000157	D	0.87111	0.6096	M	0.74467	2.265	0.26098	N	0.980861	D;D	0.89917	0.999;1.0	D;D	0.77557	0.96;0.99	T	0.80953	-0.1152	10	0.66056	D	0.02	.	14.6952	0.69115	0.0722:0.0:0.9278:0.0	.	1720;1993	E9PC84;P24821	.;TENA_HUMAN	M	1629;1538;1447;1356;1993;1811;1720;1356;1630	ENSP00000344400:T1629M;ENSP00000438152:T1538M;ENSP00000344555:T1447M;ENSP00000345861:T1356M;ENSP00000265131:T1993M;ENSP00000339553:T1811M;ENSP00000411406:T1720M;ENSP00000443478:T1356M;ENSP00000442242:T1630M	ENSP00000344400:T1629M	T	-	2	0	TNC	116832448	1.000000	0.71417	0.978000	0.43139	0.999000	0.98932	4.342000	0.59341	2.663000	0.90544	0.655000	0.94253	ACG	TNC	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000041982		0.517	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0	42	0	G	NM_002160		117792627	-1	tier1	-	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.997	A	A	117792627	G	A	117792627	3	1	168	1	0	0	0	0	1	0	0	0	16317	1145	40	1	647	1	TNC	9	117792627	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	3097373	117792627	23420804	148	42336											
NR6A1	2649	genome.wustl.edu	37	chr9	127302411	127302411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catggttgctccagtgattgGcctcttcctcaaactcctgc	6	13	8	14	0	2	1	1	1	1	0	5	1	5	1	4	2	3	2	4	2	1	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:127302411G>A	ENST00000487099.2	-	5	654	c.497C>T	c.(496-498)gCc>gTc	p.A166V	NR6A1_ENST00000416460.2_Missense_Mutation_p.A162V|NR6A1_ENST00000373584.3_Missense_Mutation_p.A162V|NR6A1_ENST00000344523.4_Missense_Mutation_p.A166V	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	166					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CCAGTGATTGGCCTCTTCCTC	0.517																																					Esophageal Squamous(192;272 2884 6208 20560)												0													264	214	231					9																	127302411		2203	4300	6503	SO:0001583	missense	0			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.497C>T	9.37:g.127302411G>A	ENSP00000420267:p.Ala166Val		O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A166V	ENST00000487099.2	37	c.497	CCDS35137.1	9	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837328	0.91117	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.94537	-3.15;-3.29;-3.3;-3.18;-3.45	5.99	5.99	0.97316	Nuclear hormone receptor, ligand-binding (2);	0.143611	0.64402	D	0.000006	D	0.95354	0.8492	L	0.47716	1.5	0.50171	D	0.999856	P;P;D	0.60575	0.956;0.781;0.988	B;B;P	0.57911	0.444;0.254;0.829	D	0.93660	0.6981	10	0.30854	T	0.27	.	19.4659	0.94939	0.0:0.0:1.0:0.0	.	162;166;162	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	V	166;162;162;166;124	ENSP00000420267:A166V;ENSP00000362686:A162V;ENSP00000413701:A162V;ENSP00000341135:A166V;ENSP00000420587:A124V	ENSP00000341135:A166V	A	-	2	0	NR6A1	126342232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.364000	0.79526	2.840000	0.97914	0.655000	0.94253	GCC	NR6A1	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000148200		0.517	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR6A1	HGNC	protein_coding	OTTHUMT00000054043.4	-	0	43	0	G			127302411	-1	tier1	-	no_errors	ENST00000487099	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	127302411	G	A	127302411	3	1	168	1	0	0	0	0	1	0	0	0	10676	1203	42	3	969	3	NR6A1	9	127302411	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	9509784	127302411	13911020	149	42337											
CIZ1	25792	genome.wustl.edu	37	chr9	130941328	130941328	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcacctgccttgggccCtgtgaatgtgcctgtggctg	4	11	14	12	0	0	1	0	1	0	0	0	1	0	1	4	2	4	3	4	2	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:130941328C>T	ENST00000393608.1	-	8	1360	c.1158G>A	c.(1156-1158)caG>caA	p.Q386Q	CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000541172.1_Silent_p.Q285Q|CIZ1_ENST00000277465.4_Silent_p.Q386Q|CIZ1_ENST00000538431.1_Silent_p.Q386Q|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000372938.5_Silent_p.Q386Q|CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000357558.5_Silent_p.Q386Q|CIZ1_ENST00000325721.8_Silent_p.Q357Q	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	386	Gln-rich.				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						gccttgggccctgtgaatgtg	0.632																																																	0													54	45	48					9																	130941328		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1158G>A	9.37:g.130941328C>T			A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.Q386	ENST00000393608.1	37	c.1158	CCDS6894.1	9																																																																																			CIZ1	-	NULL	ENSG00000148337		0.632	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	-	0	72	0	C	NM_012127		130941328	-1	tier1	-	no_errors	ENST00000538431	ensembl	human	known	74_37	silent	16.00	42	8	SNP	0.855	T	T	130941328	C	T	130941328	2	4	168	1	0	0	0	0	0	0	0	1	3448	680	24	3		3	CIZ1	9	130941328	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	3638917	130941328	10272103	150	42338											
GOLGA2	2801	genome.wustl.edu	37	chr9	131020104	131020104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaaagctggatgcagCgatgttccagttcctctacc	9	10	9	13	1	1	1	0	0	1	1	4	3	4	2	4	1	4	4	4	1	2	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:131020104C>T	ENST00000421699.2	-	23	2507	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	GOLGA2_ENST00000609374.1_Missense_Mutation_p.R820H|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	832					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						CTGGATGCAGCGATGTTCCAG	0.557																																																	0													358	347	351					9																	131020104		2203	4300	6503	SO:0001583	missense	0			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.2495G>A	9.37:g.131020104C>T	ENSP00000416097:p.Arg832His		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	superfamily_CofA_tubulin-bd	p.R832H	ENST00000421699.2	37	c.2495	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	c	19.08	3.758423	0.69763	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	T	0.28255	1.62	4.56	4.56	0.56223	.	0.148879	0.64402	D	0.000007	T	0.52917	0.1764	M	0.77103	2.36	0.52501	D	0.999959	D;D	0.89917	0.999;1.0	P;D	0.64042	0.897;0.921	T	0.51236	-0.8731	10	0.18710	T	0.47	.	17.5217	0.87789	0.0:1.0:0.0:0.0	.	832;450	Q08379;Q08379-2	GOGA2_HUMAN;.	H	832;116	ENSP00000416097:R832H	ENSP00000342692:R116H	R	-	2	0	GOLGA2	130059925	1.000000	0.71417	0.823000	0.32752	0.185000	0.23345	5.620000	0.67736	2.350000	0.79820	0.650000	0.86243	CGC	GOLGA2	-	NULL	ENSG00000167110		0.557	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2		0	94	0	C	NM_004486		131020104	-1			no_errors	ENST00000421699	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	131020104	C	T	131020104	3	4	168	1	0	0	0	0	1	0	0	0	6578	768	27	1	529	1	GOLGA2	9	131020104	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	78776	131020104	10193327	151	42339											
ABL1	25	genome.wustl.edu	37	chr9	133750256	133750256	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacattttcctttcttagaGatcttgctgcccgaaactgc	9	14	7	11	1	2	1	0	0	2	1	3	4	3	1	2	0	5	1	2	0	3	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:133750256G>C	ENST00000318560.5	+	7	1468	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	363	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CTTTCTTAGAGATCTTGCTGC	0.512			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											132	121	125					9																	133750256		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1086-1G>C	9.37:g.133750256G>C			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.D382H	ENST00000318560.5	37	c.1144	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724439	0.89298	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.80824	-1.42;-1.42	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93871	0.8039	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96124	0.9087	10	0.87932	D	0	.	17.802	0.88590	0.0:0.0:1.0:0.0	.	363;400	P00519;Q59FK4	ABL1_HUMAN;.	H	178;382;363	ENSP00000361423:D382H;ENSP00000323315:D363H	ENSP00000323315:D363H	D	+	1	0	ABL1	132740077	1.000000	0.71417	0.971000	0.41717	0.925000	0.55904	9.858000	0.99539	2.450000	0.82876	0.655000	0.94253	GAT	ABL1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000097007		0.512	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	-	0	83	0	G	NM_007313	Missense_Mutation	133750256	1	tier1	-	no_errors	ENST00000372348	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	C	C	133750256	G	C	133750256	5	2	168	1	0	0	0	0	0	0	1	0	92	956	33	5	1253	5	ABL1	9	133750256	Splice_Site	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2730152	133750256	7463175	152	42340											
NDOR1	27158	genome.wustl.edu	37	chr9	140110463	140110463	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcatccctgccttctcccgGgaacaggtgtgtatgctcag	6	11	10	14	1	3	0	2	0	1	0	5	1	4	1	3	2	3	2	3	2	2	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr9:140110463G>T	ENST00000344894.5	+	12	1631	c.1548G>T	c.(1546-1548)cgG>cgT	p.R516R	NDOR1_ENST00000371521.4_Silent_p.R516R|NDOR1_ENST00000458322.2_Silent_p.R509R|NDOR1_ENST00000427047.2_Silent_p.R482R	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCTTCTCCCGGGAACAGGTGT	0.612																																																	0													72	79	77					9																	140110463		2203	4300	6503	SO:0001819	synonymous_variant	0			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1548G>T	9.37:g.140110463G>T				Silent	SNP	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R516	ENST00000344894.5	37	c.1548	CCDS7036.1	9																																																																																			NDOR1	-	pfam_OxRdtase_FAD/NAD-bd	ENSG00000188566		0.612	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDOR1	HGNC	protein_coding	OTTHUMT00000254704.1	-	0	132	0	G	NM_014434		140110463	1	tier1	-	no_errors	ENST00000371521	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	140110463	G	T	140110463	2	4	168	1	0	0	0	0	0	0	0	1	10288	1219	43	3		3	NDOR1	9	140110463	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	6360207	140110463	1102968	153	42341											
ZEB1	6935	genome.wustl.edu	37	chr10	31809133	31809133	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcacacataagcagtaaGaaatgtatcagcttgatacc	16	9	7	9	0	2	2	2	1	0	1	2	2	2	2	1	0	4	5	1	0	5	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr10:31809133G>C	ENST00000320985.10	+	7	980	c.870G>C	c.(868-870)aaG>aaC	p.K290N	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.K223N|ZEB1_ENST00000361642.5_Missense_Mutation_p.K291N|ZEB1_ENST00000446923.2_Missense_Mutation_p.K274N|ZEB1_ENST00000560721.2_Missense_Mutation_p.K270N			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	290					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TAAGCAGTAAGAAATGTATCA	0.443																																					Ovarian(40;423 959 14296 36701 49589)												0													93	90	91					10																	31809133		2203	4300	6503	SO:0001583	missense	0			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.870G>C	10.37:g.31809133G>C	ENSP00000319248:p.Lys290Asn		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.K291N	ENST00000320985.10	37	c.873	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543318	0.65198	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.16324	2.65;2.35;2.42;2.35;2.41	5.62	4.68	0.58851	.	0.000000	0.64402	D	0.000004	T	0.38825	0.1055	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.87578	0.994;0.998;0.994;0.995;0.995;0.992;0.995;0.995	T	0.19811	-1.0294	10	0.72032	D	0.01	-21.9797	13.5529	0.61743	0.0793:0.0:0.9207:0.0	.	223;290;274;290;290;270;291;290	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	N	72;290;291;290;223;290;270;149;181;274	ENSP00000444282:K72N;ENSP00000354487:K291N;ENSP00000444891:K223N;ENSP00000319248:K290N;ENSP00000391612:K274N	ENSP00000319248:K290N	K	+	3	2	ZEB1	31849139	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.134000	0.57990	1.282000	0.44496	-0.345000	0.07892	AAG	ZEB1	-	NULL	ENSG00000148516		0.443	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2		0	53	0	G	NM_030751		31809133	1			no_errors	ENST00000361642	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	C	C	31809133	G	C	31809133	3	2	168	1	0	0	0	0	1	0	0	0	17671	933	33	5	910	5	ZEB1	10	31809133	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09		31809133	103725614	154	42342											
FAM21B	387680	genome.wustl.edu	37	chr10	47946902	47946902	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttatttgatgataacattGatatctttgctgacttaact	12	19	5	5	0	1	4	0	4	1	0	1	4	1	4	0	0	3	1	0	0	4	8			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr10:47946902G>C	ENST00000358474.5	+	28	3538	c.3538G>C	c.(3538-3540)Gat>Cat	p.D1180H		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		1180					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TGATAACATTGATATCTTTGC	0.323																																																	0													2	3	3					10																	47946902		815	2376	3191	SO:0001583	missense	0																														ENST00000358474.5:c.3538G>C	10.37:g.47946902G>C	ENSP00000351259:p.Asp1180His			Missense_Mutation	SNP	NULL	p.D1180H	ENST00000358474.5	37	c.3538	CCDS44379.1	10	.	.	.	.	.	.	.	.	.	.	g	16.78	3.216549	0.58452	.	.	ENSG00000152726	ENST00000358474;ENST00000543972;ENST00000355876	.	.	.	2.94	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.77519	0.4142	M	0.80183	2.485	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	0.80643	-0.1291	9	0.87932	D	0	-20.1831	11.4324	0.50050	0.0:0.0:1.0:0.0	.	1180;235;1247	Q5SNT6;Q5SRD0;B7ZME8	FA21B_HUMAN;FA21D_HUMAN;.	H	1180;437;1150	.	ENSP00000348138:D1150H	D	+	1	0	FAM21B	47466908	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.128000	0.94424	1.493000	0.48517	0.377000	0.23210	GAT	FAM21B	-	NULL	ENSG00000152726		0.323	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM21B	HGNC	protein_coding	OTTHUMT00000047871.2	-	0	44	0	G			47946902	1	tier1	-	no_errors	ENST00000358474	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	C	C	47946902	G	C	47946902	3	2	168	1	0	0	0	0	1	0	0	0	5560	1290	45	5	3648	5	FAM21B	10	47946902	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	16137769	47946902	87587845	155	42343											
PCDH15	65217	genome.wustl.edu	37	chr10	55826626	55826626	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacatctgtcaccactatgTttactgtggcagttgaggtc	8	14	10	9	0	2	2	1	2	1	0	3	2	2	2	1	2	1	3	1	2	2	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr10:55826626T>A	ENST00000320301.6	-	18	2505	c.2111A>T	c.(2110-2112)aAc>aTc	p.N704I	PCDH15_ENST00000414778.1_Missense_Mutation_p.N709I|PCDH15_ENST00000373957.3_Missense_Mutation_p.N682I|PCDH15_ENST00000409834.1_Missense_Mutation_p.N315I|PCDH15_ENST00000437009.1_Missense_Mutation_p.N633I|PCDH15_ENST00000395433.1_Missense_Mutation_p.N682I|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.N711I|PCDH15_ENST00000395445.1_Missense_Mutation_p.N711I|PCDH15_ENST00000395430.1_Missense_Mutation_p.N704I|PCDH15_ENST00000395432.2_Missense_Mutation_p.N667I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.N704I|PCDH15_ENST00000373955.1_Missense_Mutation_p.N704I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.N704I	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	704	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACCACTATGTTTACTGTGGC	0.378										HNSCC(58;0.16)																																							0													90	84	86					10																	55826626		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2111A>T	10.37:g.55826626T>A	ENSP00000322604:p.Asn704Ile		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N704I	ENST00000320301.6	37	c.2111	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299604	0.60195	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57107	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.42;0.64	5.7	5.7	0.88788	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.56217	0.1970	N	0.11892	0.195	0.41092	D	0.985604	D;D;P;P;D;D;D;D;P;P;P;D;D;D;P	0.76494	0.999;0.996;0.599;0.599;0.996;0.996;0.999;0.992;0.771;0.771;0.943;0.992;0.991;0.992;0.771	D;D;P;P;D;D;D;P;P;P;P;D;P;D;P	0.85130	0.997;0.954;0.574;0.472;0.943;0.979;0.997;0.889;0.574;0.574;0.83;0.925;0.823;0.949;0.574	T	0.64149	-0.6475	9	0.59425	D	0.04	.	14.9524	0.71086	0.0:0.0:0.0:1.0	.	682;704;704;709;633;667;704;704;711;711;704;709;704;682;704	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	I	711;709;704;704;315;711;667;704;682;682;704;704;709;633;704	ENSP00000363076:N711I;ENSP00000410304:N709I;ENSP00000378826:N704I;ENSP00000386693:N315I;ENSP00000378832:N711I;ENSP00000378820:N667I;ENSP00000354950:N704I;ENSP00000378821:N682I;ENSP00000363068:N682I;ENSP00000322604:N704I;ENSP00000378818:N704I;ENSP00000412628:N633I;ENSP00000363066:N704I	ENSP00000322604:N704I	N	-	2	0	PCDH15	55496632	0.998000	0.40836	0.701000	0.30321	0.955000	0.61496	3.573000	0.53856	2.183000	0.69458	0.533000	0.62120	AAC	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000150275		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	47	0	T	NM_033056		55826626	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.678	A	A	55826626	T	A	55826626	3	1	168	1	0	0	0	0	1	0	0	0	11550	1725	60	5	5439	5	PCDH15	10	55826626	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	7879724	55826626	79708121	156	42344											
SLC16A9	220963	genome.wustl.edu	37	chr10	61413642	61413642	+	Missense_Mutation	SNP	A	A	G	1	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	cacacaaggctaggcccatgAtgattaaggtagcaacataa	16	7	9	9	0	0	2	0	2	0	0	0	2	0	2	1	3	2	3	1	3	6	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr10:61413642A>G	ENST00000395348.3	-	5	1778	c.1142T>C	c.(1141-1143)aTc>aCc	p.I381T	SLC16A9_ENST00000395347.1_Missense_Mutation_p.I381T	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	381					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						TAGGCCCATGATGATTAAGGT	0.413																																																	0													142	133	136					10																	61413642		2203	4300	6503	SO:0001583	missense	0			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.1142T>C	10.37:g.61413642A>G	ENSP00000378757:p.Ile381Thr		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I381T	ENST00000395348.3	37	c.1142	CCDS7256.1	10	.	.	.	.	.	.	.	.	.	.	A	0.052	-1.247375	0.01481	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.59083	0.29;0.29	5.2	-1.35	0.09114	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.917328	0.09670	N	0.771281	T	0.31513	0.0799	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17228	-1.0376	10	0.21540	T	0.41	.	6.156	0.20338	0.4902:0.1385:0.3713:0.0	.	381	Q7RTY1	MOT9_HUMAN	T	381	ENSP00000378757:I381T;ENSP00000378756:I381T	ENSP00000378756:I381T	I	-	2	0	SLC16A9	61083648	0.008000	0.16893	0.259000	0.24435	0.972000	0.66771	0.436000	0.21526	-0.257000	0.09459	0.482000	0.46254	ATC	SLC16A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165449		0.413	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A9	HGNC	protein_coding	OTTHUMT00000048174.2	-	0	80	0	A	NM_194298		61413642	-1	tier1	-	no_errors	ENST00000395347	ensembl	human	known	74_37	missense	12.50	42	6	SNP	0.008	G	G	61413642	A	G	61413642	3	3	168	1	0	0	0	0	1	0	0	0	14460	333	12	4	395	4	SLC16A9	10	61413642	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	5587016	61413642	74121105	157	42345											
CPEB3	22849	genome.wustl.edu	37	chr10	93999920	93999920	+	Frame_Shift_Del	DEL	G	G	-																															tgtccgggccgttgggggccGggggggcagcggctgggctg																										TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr10:93999920delG	ENST00000265997.4	-	2	360	c.188delC	c.(187-189)ccgfs	p.P63fs	CPEB3_ENST00000412050.4_Frame_Shift_Del_p.P63fs	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	63	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)				GTTGGGGGCCGGGGGGGCAGC	0.692																																																	0									,	30,23,3843		2,0,26,1,21,1898	5	6	6		,	2	1	10		6	36,65,7467		4,0,28,6,53,3693	no	codingComplex,codingComplex	CPEB3	NM_014912.4,NM_001178137.1	,	6,0,54,7,74,5591	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3346,1.3604,1.3433	,	,	93999920	66,88,11310	2112	4127	6239	SO:0001589	frameshift_variant	0			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.188delC	10.37:g.93999920delG	ENSP00000265997:p.Pro63fs		Q5T389|Q9NQJ7|Q9Y2E9	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P63fs	ENST00000265997.4	37	c.188	CCDS31246.1	10																																																																																			CPEB3	-	NULL	ENSG00000107864		0.692	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPEB3	HGNC	protein_coding	OTTHUMT00000049387.2		0	35	0	G	NM_014912		93999920	-1	tier1		no_errors	ENST00000265997	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	1.000	-	-	93999920	G	-	93999920	7	5	168	1	0	1	0	1	0	0	0	0	3809	1116	39	0	1971	0	CPEB3	10	93999920	Frame_Shift_Del	DEL	G	TCGA-VR-A8EX-01A-11D-A36J-09	32586278	93999920	41534827	158	42346											
NOC3L	64318	genome.wustl.edu	37	chr10	96109877	96109877	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagcaactcaccaattttGacatgtcattcatgagaggg	13	11	8	9	0	3	2	3	2	0	1	3	3	3	2	1	1	3	1	1	1	3	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr10:96109877G>C	ENST00000371361.3	-	9	1221	c.1121C>G	c.(1120-1122)tCa>tGa	p.S374*	NOC3L_ENST00000371350.1_Nonsense_Mutation_p.S374*|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Nonsense_Mutation_p.S112*	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	374					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)				CACCAATTTTGACATGTCATT	0.448																																																	0													178	162	168					10																	96109877		2203	4300	6503	SO:0001587	stop_gained	0			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.1121C>G	10.37:g.96109877G>C	ENSP00000360412:p.Ser374*		Q9H5M6|Q9H9D8	Nonsense_Mutation	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.S374*	ENST00000371361.3	37	c.1121	CCDS7433.1	10	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383068	0.42207	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	.	.	.	5.83	5.83	0.93111	.	0.350989	0.29684	N	0.011467	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-11.8216	15.5825	0.76455	0.0:0.137:0.863:0.0	.	.	.	.	X	112;374;374	.	ENSP00000360401:S374X	S	-	2	0	NOC3L	96099867	1.000000	0.71417	0.997000	0.53966	0.053000	0.15095	3.574000	0.53863	2.775000	0.95449	0.650000	0.86243	TCA	NOC3L	-	superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	ENSG00000173145		0.448	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	-	0	56	0	G	NM_022451		96109877	-1	tier1	-	no_errors	ENST00000371350	ensembl	human	known	74_37	nonsense	11.11	56	7	SNP	1.000	C	C	96109877	G	C	96109877	4	2	168	1	0	0	0	0	0	1	0	0	10553	1294	45	5	1333	5	NOC3L	10	96109877	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2109957	96109877	39424870	159	42347											
SORBS1	10580	genome.wustl.edu	37	chr10	97170530	97170530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcatttagtagaggactgGaatcctgaaacgaacaaaca	16	9	8	8	1	1	2	1	1	0	1	2	5	2	4	1	2	3	1	1	2	6	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr10:97170530G>T	ENST00000361941.3	-	8	841	c.815C>A	c.(814-816)tCc>tAc	p.S272Y	SORBS1_ENST00000306402.6_Missense_Mutation_p.S149Y|SORBS1_ENST00000353505.5_Missense_Mutation_p.S203Y|SORBS1_ENST00000371249.2_Missense_Mutation_p.S240Y|SORBS1_ENST00000371241.1_Missense_Mutation_p.S108Y|SORBS1_ENST00000393949.1_Missense_Mutation_p.S263Y|SORBS1_ENST00000371239.1_Missense_Mutation_p.S117Y|SORBS1_ENST00000354106.3_Missense_Mutation_p.S263Y|SORBS1_ENST00000607232.1_Missense_Mutation_p.S117Y|SORBS1_ENST00000371227.4_Missense_Mutation_p.S272Y|SORBS1_ENST00000277982.5_Missense_Mutation_p.S272Y|SORBS1_ENST00000371246.2_Missense_Mutation_p.S272Y|SORBS1_ENST00000347291.4_Missense_Mutation_p.S140Y|SORBS1_ENST00000371247.2_Missense_Mutation_p.S272Y|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371245.3_Missense_Mutation_p.S203Y	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)		TAGAGGACTGGAATCCTGAAA	0.353																																																	0													91	84	86					10																	97170530		2203	4300	6503	SO:0001583	missense	0			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.815C>A	10.37:g.97170530G>T	ENSP00000355136:p.Ser272Tyr			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.S117Y	ENST00000361941.3	37	c.350	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397542	0.62177	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;1.54;1.36;0.84;1.36;0.84;0.84;0.84;2.79;0.84;0.84;1.54;0.84;1.54	5.56	5.56	0.83823	.	0.000000	0.36101	N	0.002797	T	0.57975	0.2090	L	0.40543	1.245	0.28287	N	0.923717	D;P;P;D;P;B;P;B;P;D;B	0.69078	0.997;0.681;0.889;0.963;0.875;0.222;0.654;0.222;0.895;0.98;0.002	P;B;P;P;B;B;B;P;P;P;B	0.59643	0.795;0.133;0.648;0.648;0.309;0.404;0.431;0.473;0.547;0.861;0.009	T	0.56208	-0.8017	10	0.66056	D	0.02	-2.4904	17.7016	0.88296	0.0:0.0:1.0:0.0	.	470;117;272;240;149;108;117;203;272;272;140	B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6	.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.	Y	203;149;240;272;272;272;263;203;140;272;272;108;263;117	ENSP00000360291:S203Y;ENSP00000302556:S149Y;ENSP00000360295:S240Y;ENSP00000360293:S272Y;ENSP00000360271:S272Y;ENSP00000360292:S272Y;ENSP00000377521:S263Y;ENSP00000343998:S203Y;ENSP00000277985:S140Y;ENSP00000355136:S272Y;ENSP00000277982:S272Y;ENSP00000360285:S108Y;ENSP00000277984:S263Y;ENSP00000360283:S117Y	ENSP00000277982:S272Y	S	-	2	0	SORBS1	97160520	0.999000	0.42202	1.000000	0.80357	0.784000	0.44337	4.324000	0.59228	2.617000	0.88574	0.563000	0.77884	TCC	SORBS1	-	NULL	ENSG00000095637		0.353	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	-	0	75	0	G			97170530	-1	tier1	-	no_errors	ENST00000607232	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	97170530	G	T	97170530	3	4	168	1	0	0	0	0	1	0	0	0	14972	1174	41	3	3356	3	SORBS1	10	97170530	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1060653	97170530	38364217	160	42348											
PCGF6	84108	genome.wustl.edu	37	chr10	105110755	105110756	+	Frame_Shift_Del	DEL	CA	CA	-																															gagacaggaggcggaggcggCaaggctgcagctccctcggt																										TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr10:105110755_105110756delCA	ENST00000369847.3	-	1	135_136	c.68_69delTG	c.(67-69)ttgfs	p.L23fs	PCGF6_ENST00000337211.4_Frame_Shift_Del_p.L23fs|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	23	Pro-rich.		L -> LPP. {ECO:0000269|PubMed:12167161, ECO:0000269|PubMed:15489334}.		negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		gcggaggcggCAAGGCTGCAGC	0.743																																																	0																																										SO:0001589	frameshift_variant	0			AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	21156	protein-coding gene	gene with protein product		607816	"ring finger protein 134"	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.68_69delTG	10.37:g.105110755_105110756delCA	ENSP00000358862:p.Leu23fs		A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L23fs	ENST00000369847.3	37	c.69_68	CCDS31275.1	10																																																																																			PCGF6	-	NULL	ENSG00000156374		0.743	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF6	HGNC	protein_coding	OTTHUMT00000050132.1		0	25	0	CA	NM_032154		105110756	-1	tier1		no_errors	ENST00000369847	ensembl	human	known	74_37	frame_shift_del	25.00	12	4	DEL	0.953:0.836	-	-	105110756	CA	-	105110755	7	5	168	1	0	1	0	1	0	0	0	0	11617	709	25	0	1023	0	PCGF6	10	105110755	Frame_Shift_Del	DEL	CA	TCGA-VR-A8EX-01A-11D-A36J-09	7940225	105110755	30423992	161	42349											
SLC18A2	6571	genome.wustl.edu	37	chr10	119013947	119013947	+	Missense_Mutation	SNP	T	T	A	0	1	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	cttgccagtgtctacacagaTgatgaagagagaggcaacgt	13	8	12	8	1	1	5	0	2	1	3	1	6	1	5	1	1	3	1	1	1	3	2	rs147489556	byFrequency	TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr10:119013947T>A	ENST00000298472.5	+	6	782	c.639T>A	c.(637-639)gaT>gaA	p.D213E	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	213					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCTACACAGATGATGAAGAGA	0.562																																																	0													97	86	90					10																	119013947		2203	4300	6503	SO:0001583	missense	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.639T>A	10.37:g.119013947T>A	ENSP00000298472:p.Asp213Glu		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D213E	ENST00000298472.5	37	c.639	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949603	0.73787	.	.	ENSG00000165646	ENST00000298472	T	0.80909	-1.43	5.79	2.19	0.27852	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81465	0.4828	L	0.41415	1.275	0.53688	D	0.999977	D	0.76494	0.999	D	0.80764	0.994	T	0.74377	-0.3685	10	0.15066	T	0.55	-8.844	9.7239	0.40320	0.0:0.3357:0.0:0.6643	.	213	Q05940	VMAT2_HUMAN	E	213	ENSP00000298472:D213E	ENSP00000298472:D213E	D	+	3	2	SLC18A2	119003937	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	1.402000	0.34600	0.129000	0.18514	0.455000	0.32223	GAT	SLC18A2	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165646		0.562	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	-	0	29	0	T	NM_003054		119013947	1	tier1	-	no_errors	ENST00000298472	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	A	A	119013947	T	A	119013947	3	1	168	1	0	0	0	0	1	0	0	0	14471	1461	51	5	657	5	SLC18A2	10	119013947	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	13903192	119013947	16520800	162	42350											
PKP3	11187	genome.wustl.edu	37	chr11	404040	404040	+	Frame_Shift_Del	DEL	C	C	-																															gtcaacatcatagctgtgctCaacaacctggtggtggccag																										TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:404040delC	ENST00000331563.2	+	11	2251	c.2175delC	c.(2173-2175)ctcfs	p.L725fs		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	725					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)		TAGCTGTGCTCAACAACCTGG	0.597																																																	0													67	74	71					11																	404040		2190	4287	6477	SO:0001589	frameshift_variant	0			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.2175delC	11.37:g.404040delC	ENSP00000331678:p.Leu725fs		F8J390|Q53EX8	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.N726fs	ENST00000331563.2	37	c.2175	CCDS7695.1	11																																																																																			PKP3	-	superfamily_ARM-type_fold	ENSG00000184363		0.597	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	HGNC	protein_coding	OTTHUMT00000239281.1		0	63	0	C	NM_007183		404040	1	tier1		no_errors	ENST00000331563	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	1.000	-	-	404040	C	-	404040	7	5	168	1	0	1	0	1	0	0	0	0	12025	813	29	0	2217	0	PKP3	11	404040	Frame_Shift_Del	DEL	C	TCGA-VR-A8EX-01A-11D-A36J-09		404040	134602476	163	42351											
GALNTL4	374378	genome.wustl.edu	37	chr11	11398890	11398890	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatggcgagatgatccgcttCcggttctccttgatgcgggt	5	12	14	10	4	1	3	0	2	1	1	4	5	3	3	3	3	1	2	3	3	0	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:11398890C>T	ENST00000227756.4	-	5	1227	c.816G>A	c.(814-816)cgG>cgA	p.R272R		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	272					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)										TGATCCGCTTCCGGTTCTCCT	0.517																																																	0													73	66	68					11																	11398890		2201	4294	6495	SO:0001819	synonymous_variant	0			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.816G>A	11.37:g.11398890C>T			O95903|Q8NDY9	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R272	ENST00000227756.4	37	c.816	CCDS7807.1	11																																																																																			GALNT18	-	pfam_Glyco_trans_2	ENSG00000110328		0.517	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	HGNC	protein_coding	OTTHUMT00000385848.1	-	0	55	0	C	NM_198516		11398890	-1	tier1	-	no_errors	ENST00000227756	ensembl	human	known	74_37	silent	12.00	44	6	SNP	1.000	T	T	11398890	C	T	11398890	2	4	168	1	0	0	0	0	0	0	0	1	6248	842	30	3		3	GALNTL4	11	11398890	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	10994850	11398890	123607626	164	42352											
MICAL2	9645	genome.wustl.edu	37	chr11	12257748	12257748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtcaaaccggagagaatGacatgaacaaacggagacgg	17	4	13	7	3	1	4	1	2	0	2	1	7	1	5	1	4	3	0	1	4	4	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:12257748G>A	ENST00000256194.4	+	16	2308	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	MICAL2_ENST00000379612.3_Missense_Mutation_p.D674N|MICAL2_ENST00000537344.1_Missense_Mutation_p.D674N|MICAL2_ENST00000527546.1_Missense_Mutation_p.D674N|MICAL2_ENST00000342902.5_Missense_Mutation_p.D674N	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	674					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)		CGGAGAGAATGACATGAACAA	0.547											OREG0020771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													163	129	141					11																	12257748		2201	4294	6495	SO:0001583	missense	0			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.2020G>A	11.37:g.12257748G>A	ENSP00000256194:p.Asp674Asn	678	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.D674N	ENST00000256194.4	37	c.2020	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724146	0.48728	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.61742	0.1;0.08;0.1;0.08;0.21	5.39	5.39	0.77823	.	0.210811	0.38897	N	0.001531	T	0.59252	0.2180	L	0.55481	1.735	0.42035	D	0.991045	B;P;P;B;P;P	0.47762	0.26;0.9;0.698;0.243;0.839;0.57	B;P;B;B;B;B	0.44990	0.054;0.466;0.108;0.09;0.218;0.119	T	0.62196	-0.6905	10	0.48119	T	0.1	.	16.9969	0.86370	0.0:0.0:1.0:0.0	.	207;674;674;674;674;674	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	N	674;207;674;674;674;674	ENSP00000441689:D674N;ENSP00000256194:D674N;ENSP00000433965:D674N;ENSP00000344894:D674N;ENSP00000368932:D674N	ENSP00000256194:D674N	D	+	1	0	MICAL2	12214324	0.999000	0.42202	0.996000	0.52242	0.748000	0.42578	2.915000	0.48805	2.676000	0.91093	0.655000	0.94253	GAC	MICAL2	-	NULL	ENSG00000133816		0.547	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	-	0	113	0	G	NM_014632		12257748	1	tier1	-	no_errors	ENST00000256194	ensembl	human	known	74_37	missense	12.05	73	10	SNP	0.999	A	A	12257748	G	A	12257748	3	1	168	1	0	0	0	0	1	0	0	0	9608	1290	45	3	2074	3	MICAL2	11	12257748	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	858858	12257748	122748768	165	42353											
PARVA	55742	genome.wustl.edu	37	chr11	12525935	12525935	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtatttccgcgcaccaattCgactcccagaccatgtttcc	9	11	6	15	3	0	1	0	0	0	1	4	2	3	1	5	0	0	3	5	0	2	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:12525935C>T	ENST00000550549.1	+	6	665	c.616C>T	c.(616-618)Cga>Tga	p.R206*	PARVA_ENST00000539723.1_Nonsense_Mutation_p.R206*|PARVA_ENST00000334956.8_Nonsense_Mutation_p.R246*|PARVA_ENST00000538608.1_Nonsense_Mutation_p.R153*			Q9NVD7	PARVA_HUMAN	parvin, alpha	206					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)		CGCACCAATTCGACTCCCAGA	0.468																																																	0													112	107	109					11																	12525935		2037	4174	6211	SO:0001587	stop_gained	0			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.616C>T	11.37:g.12525935C>T	ENSP00000447198:p.Arg206*		Q96C85|Q9HA48	Nonsense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R246*	ENST00000550549.1	37	c.736		11	.	.	.	.	.	.	.	.	.	.	C	36	5.656180	0.96724	.	.	ENSG00000197702	ENST00000334956;ENST00000539723;ENST00000550549;ENST00000538608;ENST00000528916	.	.	.	5.03	4.12	0.48240	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2433	8.7334	0.34514	0.1827:0.7372:0.0:0.0801	.	.	.	.	X	246;206;206;153;170	.	ENSP00000334008:R246X	R	+	1	2	PARVA	12482511	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.906000	0.39887	1.487000	0.48415	0.655000	0.94253	CGA	PARVA	-	superfamily_CH-domain	ENSG00000197702		0.468	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	PARVA	HGNC	protein_coding			0	90	0	C	NM_018222		12525935	1			no_errors	ENST00000334956	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	1.000	T	T	12525935	C	T	12525935	4	4	168	1	0	0	0	0	0	1	0	0	11507	876	31	1	638	1	PARVA	11	12525935	Nonsense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	268187	12525935	122480581	166	42354											
MYOD1	4654	genome.wustl.edu	37	chr11	17741339	17741339	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgccaggatatggagctaCtgtcgccaccgctccgcgac	8	6	11	16	5	0	0	0	0	0	0	2	3	1	2	5	2	2	2	5	2	2	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:17741339C>T	ENST00000250003.3	+	1	225	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	4					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|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)|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 coactivator activity (GO:0003713)	p.L4M(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						TATGGAGCTACTGTCGCCACC	0.662																																																	1	Substitution - Missense(1)	lung(1)											47	50	49					11																	17741339		2199	4293	6492	SO:0001819	synonymous_variant	0			AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"Basic helix-loop-helix proteins"	7611	protein-coding gene	gene with protein product	"myoblast determination protein 1"	159970	"myogenic factor 3"	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.10C>T	11.37:g.17741339C>T			O75321	Silent	SNP	pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.L4	ENST00000250003.3	37	c.10	CCDS7826.1	11																																																																																			MYOD1	-	smart_Basic	ENSG00000129152		0.662	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOD1	HGNC	protein_coding	OTTHUMT00000389387.1		0	54	0	C	NM_002478		17741339	1			no_errors	ENST00000250003	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	T	T	17741339	C	T	17741339	2	4	168	1	0	0	0	0	0	0	0	1	10126	564	20	3		3	MYOD1	11	17741339	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	5215404	17741339	117265177	167	42355											
NAV2	89797	genome.wustl.edu	37	chr11	19955208	19955208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagaggacttttagccGggcactgaccaacaagaaga	13	6	11	11	1	0	4	0	1	0	3	0	5	0	5	3	2	3	1	3	2	4	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:19955208G>T	ENST00000396087.3	+	8	1586	c.1487G>T	c.(1486-1488)cGg>cTg	p.R496L	NAV2_ENST00000360655.4_Missense_Mutation_p.R409L|NAV2_ENST00000349880.4_Missense_Mutation_p.R473L|NAV2_ENST00000396085.1_Missense_Mutation_p.R473L|NAV2_ENST00000527559.2_Missense_Mutation_p.R425L|NAV2_ENST00000540292.1_Missense_Mutation_p.R427L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	496					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						ACTTTTAGCCGGGCACTGACC	0.552																																																	0													60	71	67					11																	19955208		2199	4293	6492	SO:0001583	missense	0			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.1487G>T	11.37:g.19955208G>T	ENSP00000379396:p.Arg496Leu		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R496L	ENST00000396087.3	37	c.1487	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	19.68	3.871965	0.72180	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.30714	1.53;1.63;1.64;1.62;1.52;1.52	5.42	4.51	0.55191	.	0.000000	0.56097	D	0.000023	T	0.45975	0.1369	L	0.52573	1.65	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.79784	0.954;0.993	T	0.31668	-0.9935	9	.	.	.	.	10.3161	0.43738	0.1502:0.0:0.8498:0.0	.	473;409	Q8IVL1-3;Q8IVL1-4	.;.	L	409;473;473;496;425;427	ENSP00000353871:R409L;ENSP00000379394:R473L;ENSP00000309577:R473L;ENSP00000379396:R496L;ENSP00000435395:R425L;ENSP00000443489:R427L	.	R	+	2	0	NAV2	19911784	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.002000	0.88514	1.299000	0.44798	0.455000	0.32223	CGG	NAV2	-	NULL	ENSG00000166833		0.552	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1		0	44	0	G	NM_145117		19955208	1			no_errors	ENST00000396087	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	19955208	G	T	19955208	3	4	168	1	0	0	0	0	1	0	0	0	10222	1116	39	2	1523	2	NAV2	11	19955208	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2213869	19955208	115051308	168	42356											
NAV2	89797	genome.wustl.edu	37	chr11	20127143	20127143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgattcctgaggaggaaGctcatggaaacagagatcag	13	6	14	8	1	2	2	2	1	0	1	3	7	3	5	2	4	2	1	2	4	2	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:20127143G>T	ENST00000396087.3	+	38	6987	c.6888G>T	c.(6886-6888)aaG>aaT	p.K2296N	NAV2_ENST00000533917.1_Missense_Mutation_p.K1301N|NAV2_ENST00000360655.4_Missense_Mutation_p.K2173N|NAV2_ENST00000311043.8_Missense_Mutation_p.K1301N|NAV2_ENST00000349880.4_Missense_Mutation_p.K2237N|NAV2_ENST00000396085.1_Missense_Mutation_p.K2240N|NAV2_ENST00000527559.2_Missense_Mutation_p.K2225N|NAV2_ENST00000540292.1_Missense_Mutation_p.K2227N	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2296				K -> E (in Ref. 7; BAA91965). {ECO:0000305}.	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						TGAGGAGGAAGCTCATGGAAA	0.522																																																	0													100	98	99					11																	20127143		2203	4300	6503	SO:0001583	missense	0			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.6888G>T	11.37:g.20127143G>T	ENSP00000379396:p.Lys2296Asn		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.K2296N	ENST00000396087.3	37	c.6888	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	g	19.83	3.899919	0.72754	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	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	5.25	3.36	0.38483	.	0.000000	0.64402	D	0.000004	T	0.63034	0.2477	M	0.85859	2.78	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;0.996;1.0;0.997	T	0.64841	-0.6312	9	.	.	.	.	7.4843	0.27423	0.3183:0.0:0.6817:0.0	.	2240;1301;2237;2173	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	N	2173;2240;2237;2296;2225;2227;1301;1301	ENSP00000353871:K2173N;ENSP00000379394:K2240N;ENSP00000309577:K2237N;ENSP00000379396:K2296N;ENSP00000435395:K2225N;ENSP00000443489:K2227N;ENSP00000437316:K1301N;ENSP00000312169:K1301N	.	K	+	3	2	NAV2	20083719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.091000	0.50199	1.213000	0.43380	0.655000	0.94253	AAG	NAV2	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000166833		0.522	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1		0	87	0	G	NM_145117		20127143	1			no_errors	ENST00000396087	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	20127143	G	T	20127143	3	4	168	1	0	0	0	0	1	0	0	0	10222	962	34	3	6967	3	NAV2	11	20127143	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	171935	20127143	114879373	169	42357											
ANO3	63982	genome.wustl.edu	37	chr11	26655812	26655812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagatgttcctcttccaGtttgtcaatttaaacagttc	10	16	6	9	0	2	2	1	1	1	1	5	2	4	2	2	0	1	3	2	0	4	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:26655812G>T	ENST00000256737.3	+	19	2787	c.1935G>T	c.(1933-1935)caG>caT	p.Q645H	ANO3_ENST00000537978.1_Missense_Mutation_p.Q629H|ANO3_ENST00000531568.1_Missense_Mutation_p.Q499H|ANO3_ENST00000525139.1_Missense_Mutation_p.Q629H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	645					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						TCCTCTTCCAGTTTGTCAATT	0.398																																																	0													121	106	111					11																	26655812		2203	4299	6502	SO:0001583	missense	0			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.1935G>T	11.37:g.26655812G>T	ENSP00000256737:p.Gln645His		B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.Q645H	ENST00000256737.3	37	c.1935	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813454	0.70912	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.92	3.09	0.35607	.	0.000000	0.85682	D	0.000000	T	0.81351	0.4804	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80801	-0.1220	10	0.87932	D	0	.	8.8149	0.34989	0.3394:0.0:0.6606:0.0	.	547;645	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	H	629;629;645;547;499	ENSP00000440737:Q629H;ENSP00000432576:Q629H;ENSP00000256737:Q645H;ENSP00000432394:Q499H	ENSP00000256737:Q645H	Q	+	3	2	ANO3	26612388	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.681000	0.37618	0.432000	0.26286	0.650000	0.86243	CAG	ANO3	-	pfam_Anoctamin	ENSG00000134343		0.398	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	-	0	35	0	G	NM_031418		26655812	1	tier1	-	no_errors	ENST00000256737	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	26655812	G	T	26655812	3	4	168	1	0	0	0	0	1	0	0	0	698	1020	36	3	2009	3	ANO3	11	26655812	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	6528669	26655812	108350704	170	42358											
CAPRIN1	4076	genome.wustl.edu	37	chr11	34107731	34107731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagcgagtacaagaccttAtggcacaaatgcagggtccc	13	6	11	11	1	0	1	0	0	0	1	1	3	1	1	2	2	3	3	2	2	4	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:34107731A>G	ENST00000341394.4	+	10	1276	c.1087A>G	c.(1087-1089)Atg>Gtg	p.M363V	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.M363V|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.M363V|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.M282V|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.M363V	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	363	G3BP1-binding.				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)				ACAAGACCTTATGGCACAAAT	0.438																																																	0													64	60	62					11																	34107731		2202	4298	6500	SO:0001583	missense	0			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.1087A>G	11.37:g.34107731A>G	ENSP00000340329:p.Met363Val		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	pfam_Caprin-1_C	p.M363V	ENST00000341394.4	37	c.1087	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	A	16.21	3.059889	0.55325	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	M	0.72479	2.2	0.80722	D	1	P;P	0.39181	0.533;0.663	B;B	0.33196	0.076;0.159	T	0.13415	-1.0510	10	0.17832	T	0.49	-5.0913	16.6512	0.85203	1.0:0.0:0.0:0.0	.	363;363	Q14444;Q14444-2	CAPR1_HUMAN;.	V	363;363;363;363;282	ENSP00000340329:M363V;ENSP00000374296:M363V;ENSP00000434150:M363V;ENSP00000434204:M363V;ENSP00000431581:M282V	ENSP00000340329:M363V	M	+	1	0	CAPRIN1	34064307	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	8.962000	0.93254	2.333000	0.79357	0.482000	0.46254	ATG	CAPRIN1	-	NULL	ENSG00000135387		0.438	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	-	0	39	0	A	NM_005898		34107731	1	tier1	-	no_errors	ENST00000341394	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	G	G	34107731	A	G	34107731	3	3	168	1	0	0	0	0	1	0	0	0	2642	449	16	4	1121	4	CAPRIN1	11	34107731	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	7451919	34107731	100898785	171	42359											
CRY2	1408	genome.wustl.edu	37	chr11	45869207	45869207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtgcgctgcgtttacattCtcgacccgtggttcgcggcc	3	11	13	14	7	1	0	0	0	1	0	3	1	1	0	2	2	3	3	2	2	1	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:45869207C>T	ENST00000443527.2	+	1	251	c.229C>T	c.(229-231)Ctc>Ttc	p.L77F	CRY2_ENST00000417225.2_Intron|CRY2_ENST00000473199.1_3'UTR	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	56	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CGTTTACATTCTCGACCCGTG	0.697																																					Esophageal Squamous(106;91 1499 8126 12599 39610)												0													12	12	12					11																	45869207		2181	4272	6453	SO:0001583	missense	0			AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.229C>T	11.37:g.45869207C>T	ENSP00000406751:p.Leu77Phe		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.L77F	ENST00000443527.2	37	c.229	CCDS7915.2	11	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806601	0.90623	.	.	ENSG00000121671	ENST00000443527	.	.	.	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.63757	0.2538	M	0.63208	1.945	0.50039	D	0.999848	P	0.36909	0.573	B	0.40565	0.333	T	0.59894	-0.7368	9	0.26408	T	0.33	-31.5246	16.9381	0.86208	0.0:1.0:0.0:0.0	.	77	B4DZD6	.	F	77	.	ENSP00000406751:L77F	L	+	1	0	CRY2	45825783	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.310000	0.59141	2.813000	0.96785	0.561000	0.74099	CTC	CRY2	-	pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N	ENSG00000121671		0.697	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	HGNC	protein_coding	OTTHUMT00000330235.2	-	0	8	0	C	NM_021117		45869207	1	tier1	-	no_errors	ENST00000443527	ensembl	human	known	74_37	missense	40.00	6	4	SNP	1.000	T	T	45869207	C	T	45869207	3	4	168	1	0	0	0	0	1	0	0	0	3911	913	32	3	267	3	CRY2	11	45869207	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	11761476	45869207	89137309	172	42360											
MPEG1	219972	genome.wustl.edu	37	chr11	58980158	58980158	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagtcaattccataactcGtcccatgtccacattccgca	11	11	5	14	2	1	0	1	0	0	0	6	0	5	0	4	0	1	2	4	0	3	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:58980158G>A	ENST00000361050.3	-	1	266	c.181C>T	c.(181-183)Cga>Tga	p.R61*	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	61	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)		p.R61*(1)		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)				TCCATAACTCGTCCCATGTCC	0.478																																																	1	Substitution - Nonsense(1)	large_intestine(1)											170	169	169					11																	58980158		2017	4174	6191	SO:0001587	stop_gained	0			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.181C>T	11.37:g.58980158G>A	ENSP00000354335:p.Arg61*		Q2M1T6|Q8TEF8	Nonsense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R61*	ENST00000361050.3	37	c.181	CCDS41650.1	11	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994369	0.93167	.	.	ENSG00000197629	ENST00000361050;ENST00000545098	.	.	.	5.41	3.33	0.38152	.	0.064428	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1937	10.4012	0.44231	0.0:0.0:0.5005:0.4995	.	.	.	.	X	61	.	ENSP00000354335:R61X	R	-	1	2	MPEG1	58736734	0.994000	0.37717	1.000000	0.80357	0.940000	0.58332	2.854000	0.48325	1.262000	0.44165	0.644000	0.83932	CGA	MPEG1	-	NULL	ENSG00000197629		0.478	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPEG1	HGNC	protein_coding	OTTHUMT00000370027.1		0	74	0	G	NM_001039396		58980158	-1			no_errors	ENST00000361050	ensembl	human	known	74_37	nonsense	5.00	57	3	SNP	0.998	A	A	58980158	G	A	58980158	4	1	168	1	0	0	0	0	0	1	0	0	9761	1153	40	1	1973	1	MPEG1	11	58980158	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	13110951	58980158	76026358	173	42361											
NAALADL1	10004	genome.wustl.edu	37	chr11	64825853	64825853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatccagctgccccatgacGgtctccaggatctccaggtc	7	8	10	16	1	2	1	0	1	2	0	6	2	3	2	5	3	2	2	5	3	0	0	rs372762648		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:64825853G>A	ENST00000358658.3	-	1	168	c.141C>T	c.(139-141)acC>acT	p.T47T	NAALADL1_ENST00000356632.3_Silent_p.T47T|NAALADL1_ENST00000339885.2_Silent_p.T47T|NAALADL1_ENST00000355721.3_Silent_p.T47T|NAALADL1_ENST00000355369.2_Silent_p.T47T|NAALADL1_ENST00000340252.4_Silent_p.T47T	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCCCCATGACGGTCTCCAGGA	0.632																																																	0								G		1,4401	2.1+/-5.4	0,1,2200	50	47	48		141	-8.7	0	11		48	0,8594		0,0,4297	no	coding-synonymous	NAALADL1	NM_005468.2		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		47/741	64825853	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	0			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.141C>T	11.37:g.64825853G>A			C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.T47	ENST00000358658.3	37	c.141	CCDS31604.1	11																																																																																			NAALADL1	-	NULL	ENSG00000168060		0.632	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL1	HGNC	protein_coding	OTTHUMT00000385162.1	-	0	121	0	G	NM_005468		64825853	-1	tier1	-	no_errors	ENST00000358658	ensembl	human	known	74_37	silent	7.89	105	9	SNP	0.000	A	A	64825853	G	A	64825853	2	1	168	1	0	0	0	0	0	0	0	1	10167	1103	39	1		1	NAALADL1	11	64825853	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	5845695	64825853	70180663	174	42362											
NADSYN1	55191	genome.wustl.edu	37	chr11	71208614	71208614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccctacagcatgttctGcaaactcctcggcatgtgga	8	9	12	12	1	1	0	0	0	1	0	3	1	2	1	2	4	4	4	2	4	2	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:71208614G>A	ENST00000319023.2	+	19	2038	c.1850G>A	c.(1849-1851)tGc>tAc	p.C617Y	NADSYN1_ENST00000530055.1_Missense_Mutation_p.C246Y|NADSYN1_ENST00000539574.1_Missense_Mutation_p.C357Y	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	617	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	AGCATGTTCTGCAAACTCCTC	0.532																																					Ovarian(79;763 1781 6490 50276)												0													126	119	121					11																	71208614		2200	4294	6494	SO:0001583	missense	0			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1850G>A	11.37:g.71208614G>A	ENSP00000326424:p.Cys617Tyr		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.C617Y	ENST00000319023.2	37	c.1850	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	.	21.3	4.130255	0.77549	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.29655	2.57;1.98;1.56	4.81	4.81	0.61882	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.67569	2.06	0.80722	D	1	B;D	0.71674	0.146;0.998	B;D	0.75484	0.195;0.986	T	0.47947	-0.9077	10	0.02654	T	1	-31.5822	15.3854	0.74695	0.0:0.0:1.0:0.0	.	357;617	B3KUU4;Q6IA69	.;NADE_HUMAN	Y	617;357;246	ENSP00000326424:C617Y;ENSP00000443718:C357Y;ENSP00000431820:C246Y	ENSP00000326424:C617Y	C	+	2	0	NADSYN1	70886262	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	8.204000	0.89741	2.234000	0.73211	0.591000	0.81541	TGC	NADSYN1	-	pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase	ENSG00000172890		0.532	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	-	0	78	0	G	NM_018161		71208614	1	tier1	-	no_errors	ENST00000319023	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	71208614	G	A	71208614	3	1	168	1	0	0	0	0	1	0	0	0	10176	1319	46	3	1924	3	NADSYN1	11	71208614	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	6382761	71208614	63797902	175	42363											
NAALAD2	10003	genome.wustl.edu	37	chr11	89882218	89882218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaccaccagatggctatgaGaatgttacaaatattgtgcc	13	10	8	10	0	0	2	0	1	0	2	0	3	0	2	4	1	2	2	4	1	5	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:89882218G>C	ENST00000534061.1	+	4	656	c.426G>C	c.(424-426)gaG>gaC	p.E142D	NAALAD2_ENST00000375944.3_Missense_Mutation_p.E142D|NAALAD2_ENST00000321955.4_Missense_Mutation_p.E142D|NAALAD2_ENST00000525171.1_Missense_Mutation_p.E142D	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	142					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)				ATGGCTATGAGAATGTTACAA	0.318																																																	0													91	94	93					11																	89882218		2201	4292	6493	SO:0001583	missense	0			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.426G>C	11.37:g.89882218G>C	ENSP00000432481:p.Glu142Asp		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.E142D	ENST00000534061.1	37	c.426	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555604	0.45487	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.37	3.27	0.37495	.	0.150695	0.45361	D	0.000380	T	0.37865	0.1019	M	0.83118	2.625	0.51482	D	0.999923	B;B;B;B;B	0.31193	0.025;0.0;0.004;0.312;0.011	B;B;B;B;B	0.23275	0.012;0.002;0.004;0.045;0.005	T	0.33497	-0.9866	9	.	.	.	-17.3762	4.0939	0.09982	0.491:0.0:0.509:0.0	.	142;142;142;142;142	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	D	142;142;142;142;88	ENSP00000432481:E142D;ENSP00000320083:E142D;ENSP00000435249:E142D;ENSP00000365111:E142D;ENSP00000435670:E88D	.	E	+	3	2	NAALAD2	89521866	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	2.500000	0.45381	1.279000	0.44446	0.552000	0.68991	GAG	NAALAD2	-	NULL	ENSG00000077616		0.318	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	-	0	224	0	G	NM_005467		89882218	1	tier1	-	no_errors	ENST00000534061	ensembl	human	known	74_37	missense	7.43	162	13	SNP	1.000	C	C	89882218	G	C	89882218	3	2	168	1	0	0	0	0	1	0	0	0	10166	933	33	5	440	5	NAALAD2	11	89882218	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	18673604	89882218	45124298	176	42364											
ACAT1	38	genome.wustl.edu	37	chr11	108005929	108005930	+	Frame_Shift_Ins	INS	-	-	CT																															tgtgcttcaggaatgaaagcINScatcatgatggcctctcaaa																										TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:108005929_108005930insCT	ENST00000265838.4	+	5	486_487	c.395_396insCT	c.(394-399)gccatcfs	p.I133fs	ACAT1_ENST00000299355.6_Frame_Shift_Ins_p.I133fs	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	133					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)	GGAATGAAAGCCATCATGATGG	0.381																																																	0			GRCh37	CM041980	ACAT1	M																																				SO:0001589	frameshift_variant	0			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	Exception_encountered	11.37:g.108005929_108005930insCT	ENSP00000265838:p.Ile133fs		B2R6H1|G3XAB4|Q96FG8	Frame_Shift_Ins	INS	pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.I133fs	ENST00000265838.4	37	c.395_396	CCDS8339.1	11																																																																																			ACAT1	-	pfam_Thiolase_N,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000075239		0.381	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	HGNC	protein_coding	OTTHUMT00000389474.1		0	66	0	-	NM_000019		108005930	1	tier1		no_errors	ENST00000265838	ensembl	human	known	74_37	frame_shift_ins	23.26	33	10	INS	1.000:1.000	CT	CT	108005930	-	CT	108005929	7	5	168	1	0	1	1	0	0	0	0	0	121	739	26	0	413	0	ACAT1	11	108005929	Frame_Shift_Ins	INS	-	TCGA-VR-A8EX-01A-11D-A36J-09	18123711	108005929	27000587	177	42365											
ATM	472	genome.wustl.edu	37	chr11	108121696	108121696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagttctgagcaaatacaaGctgaaaactttggcttactt	14	13	7	7	0	1	2	0	2	1	0	1	2	1	2	0	1	5	4	0	1	7	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr11:108121696G>T	ENST00000452508.2	+	11	1693	c.1504G>T	c.(1504-1506)Gct>Tct	p.A502S	ATM_ENST00000278616.4_Missense_Mutation_p.A502S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	502					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)	GCAAATACAAGCTGAAAACTT	0.383			"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													132	144	140					11																	108121696		2201	4298	6499	SO:0001583	missense	0	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.1504G>T	11.37:g.108121696G>T	ENSP00000388058:p.Ala502Ser		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A502S	ENST00000452508.2	37	c.1504	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280239	0.23392	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.54675	0.56;0.56;0.56	6.04	3.05	0.35203	Armadillo-type fold (1);	0.474699	0.23005	N	0.053034	T	0.36026	0.0952	L	0.38531	1.155	0.21355	N	0.999714	B	0.09022	0.002	B	0.06405	0.002	T	0.20207	-1.0282	10	0.09338	T	0.73	.	8.902	0.35501	0.3384:0.0:0.6616:0.0	.	502	Q13315	ATM_HUMAN	S	502	ENSP00000435747:A502S;ENSP00000278616:A502S;ENSP00000388058:A502S	ENSP00000278616:A502S	A	+	1	0	ATM	107626906	0.290000	0.24343	1.000000	0.80357	0.997000	0.91878	0.682000	0.25335	0.788000	0.33755	0.561000	0.74099	GCT	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.383	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	60	0	G	NM_000051		108121696	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.841	T	T	108121696	G	T	108121696	3	4	168	1	0	0	0	0	1	0	0	0	1110	971	34	3	1538	3	ATM	11	108121696	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	115767	108121696	26884820	178	42366											
WNK1	65125	genome.wustl.edu	37	chr12	922899	922899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccaatattgttagattttAtgattcctgggaatccacag	11	15	7	8	0	0	2	0	1	0	1	3	3	3	3	3	1	0	1	3	1	5	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr12:922899A>G	ENST00000315939.6	+	2	1494	c.851A>G	c.(850-852)tAt>tGt	p.Y284C	WNK1_ENST00000447667.2_Missense_Mutation_p.Y284C|WNK1_ENST00000535572.1_Missense_Mutation_p.Y284C|WNK1_ENST00000537687.1_Missense_Mutation_p.Y284C|WNK1_ENST00000530271.2_Missense_Mutation_p.Y284C	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			GTTAGATTTTATGATTCCTGG	0.348																																					Colon(19;451 567 6672 12618 28860)												0													103	98	100					12																	922899		2203	4300	6503	SO:0001583	missense	0			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.851A>G	12.37:g.922899A>G	ENSP00000313059:p.Tyr284Cys		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y284C	ENST00000315939.6	37	c.851	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592269	0.86953	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.67345	1.64;1.64;1.64;-0.26;1.64	5.83	5.83	0.93111	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000016	T	0.81365	0.4807	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.91635	0.999;0.999;0.995	D	0.83427	0.0036	10	0.87932	D	0	-10.0738	16.1995	0.82060	1.0:0.0:0.0:0.0	.	284;284;284	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	C	284	ENSP00000441972:Y284C;ENSP00000313059:Y284C;ENSP00000444465:Y284C;ENSP00000392542:Y284C;ENSP00000433548:Y284C	ENSP00000313059:Y284C	Y	+	2	0	WNK1	793160	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.220000	0.72140	0.459000	0.35465	TAT	WNK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000060237		0.348	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1		0	45	0	A	NM_018979		922899	1			no_errors	ENST00000530271	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	G	G	922899	A	G	922899	3	3	168	1	0	0	0	0	1	0	0	0	17426	449	16	4	857	4	WNK1	12	922899	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09		922899	132928996	179	42367											
NCAPD2	9918	genome.wustl.edu	37	chr12	6636988	6636988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggagctggggctggttGgggcaacagcagatgacaca	11	5	18	7	0	0	2	0	1	0	1	0	4	0	4	0	7	3	5	0	7	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr12:6636988G>T	ENST00000315579.5	+	23	3752	c.2953G>T	c.(2953-2955)Ggg>Tgg	p.G985W	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.G940W	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	985					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						GGGGCTGGTTGGGGCAACAGC	0.488																																																	0													138	142	141					12																	6636988		2203	4300	6503	SO:0001583	missense	0			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.2953G>T	12.37:g.6636988G>T	ENSP00000325017:p.Gly985Trp		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.G985W	ENST00000315579.5	37	c.2953	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952956	0.73902	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.46063	2.01;0.88;1.74	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71986	0.3405	M	0.87971	2.92	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	0.75328	-0.3356	10	0.87932	D	0	-32.0088	20.3931	0.98965	0.0:0.0:1.0:0.0	.	940;946;985	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	W	985;857;940;857	ENSP00000325017:G985W;ENSP00000371895:G857W;ENSP00000444417:G940W	ENSP00000325017:G985W	G	+	1	0	NCAPD2	6507249	1.000000	0.71417	0.387000	0.26183	0.337000	0.28794	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GGG	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.488	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	-	0	42	0	G	NM_014865		6636988	1	tier1	-	no_errors	ENST00000315579	ensembl	human	known	74_37	missense	8.06	57	5	SNP	1.000	T	T	6636988	G	T	6636988	3	4	168	1	0	0	0	0	1	0	0	0	10244	1348	47	3	3039	3	NCAPD2	12	6636988	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	5714089	6636988	127214907	180	42368											
SLCO1B3	28234	genome.wustl.edu	37	chr12	21051370	21051370	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgcctttatcatatttcagGattgttcaacctgaattgaa	11	17	6	7	0	3	2	3	2	0	0	3	3	3	3	2	1	2	1	2	1	5	8			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr12:21051370G>T	ENST00000381545.3	+	14	1902	c.1683G>T	c.(1681-1683)aaG>aaT	p.K561N	LST3_ENST00000540229.1_Splice_Site_p.K561N|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Splice_Site_p.K561N|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Splice_Site_p.K561N	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	561					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CATATTTCAGGATTGTTCAAC	0.299																																																	0													82	81	81					12																	21051370		2203	4293	6496	SO:0001630	splice_region_variant	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1683-1G>T	12.37:g.21051370G>T			E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.K561N	ENST00000381545.3	37	c.1683	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	.	7.644	0.681535	0.14907	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	3.7	-1.35	0.09114	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.324885	0.34555	N	0.003879	T	0.34164	0.0888	M	0.61703	1.905	0.80722	D	1	B;B;B	0.23442	0.085;0.049;0.049	B;B;B	0.27262	0.076;0.078;0.078	T	0.07809	-1.0753	9	.	.	.	.	8.0189	0.30398	0.3394:0.0:0.6606:0.0	.	561;561;561	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	N	561;561;561;385;561	ENSP00000261196:K561N;ENSP00000370956:K561N;ENSP00000451758:K561N;ENSP00000443225:K385N;ENSP00000441269:K561N	.	K	+	3	2	SLCO1B3;RP11-545J16.1	20942637	0.999000	0.42202	0.985000	0.45067	0.326000	0.28443	1.004000	0.29822	-0.126000	0.11682	0.455000	0.32223	AAG	SLCO1B3	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.299	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0	157	0	G	NM_019844	Missense_Mutation	21051370	1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	8.85	103	10	SNP	0.975	T	T	21051370	G	T	21051370	5	4	168	1	0	0	0	0	0	0	1	0	14769	1188	41	3	1729	3	SLCO1B3	12	21051370	Splice_Site	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	14414382	21051370	112800525	181	42369											
C12orf35	55196	genome.wustl.edu	37	chr12	32145344	32145344	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagactctcgaagagaagcTtcagtgcagatggatttgag	13	9	12	7	1	2	4	1	1	1	3	3	7	2	5	0	1	2	2	0	1	3	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr12:32145344T>A	ENST00000312561.4	+	6	5533	c.5119T>A	c.(5119-5121)Ttc>Atc	p.F1707I	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1707																	GAAGAGAAGCTTCAGTGCAGA	0.323																																																	0													126	142	137					12																	32145344		2203	4300	6503	SO:0001583	missense	0			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.5119T>A	12.37:g.32145344T>A	ENSP00000310338:p.Phe1707Ile		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.F1707I	ENST00000312561.4	37	c.5119	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	T	0.098	-1.156448	0.01686	.	.	ENSG00000174718	ENST00000312561	T	0.11063	2.81	5.57	-5.88	0.02290	.	1.329900	0.04883	N	0.447942	T	0.08891	0.0220	L	0.60455	1.87	0.09310	N	1	B	0.17268	0.021	B	0.22152	0.038	T	0.38542	-0.9656	10	0.25106	T	0.35	.	0.2892	0.00256	0.3373:0.1521:0.2387:0.2719	.	1707	Q9HCM1	CL035_HUMAN	I	1707	ENSP00000310338:F1707I	ENSP00000310338:F1707I	F	+	1	0	C12orf35	32036611	0.062000	0.20869	0.045000	0.18777	0.063000	0.16089	-0.257000	0.08745	-1.285000	0.02387	-0.250000	0.11733	TTC	KIAA1551	-	NULL	ENSG00000174718		0.323	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2		0	59	0	T	NM_018169		32145344	1			no_errors	ENST00000312561	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.004	A	A	32145344	T	A	32145344	3	1	168	1	0	0	0	0	1	0	0	0	1687	1609	56	5	5129	5	C12orf35	12	32145344	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	11093974	32145344	101706551	182	42370											
OR6C68	403284	genome.wustl.edu	37	chr12	55886973	55886973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaggtaaacattaataaagGtgtgtcagtgcttatttcat	14	14	9	4	0	2	1	2	0	0	1	2	1	2	1	0	2	2	2	0	2	6	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr12:55886973G>A	ENST00000548615.1	+	1	812	c.812G>A	c.(811-813)gGt>gAt	p.G271D	RP11-110A12.2_ENST00000554049.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.G276D|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	271						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(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATTAATAAAGGTGTGTCAGTG	0.358																																																	0													68	70	69					12																	55886973		2203	4300	6503	SO:0001583	missense	0				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"GPCR / Class A : Olfactory receptors"	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.812G>A	12.37:g.55886973G>A	ENSP00000448811:p.Gly271Asp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.G276D	ENST00000548615.1	37	c.827	CCDS31826.2	12	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074899	0.76415	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.00099	8.73;8.73	5.24	-1.41	0.08941	GPCR, rhodopsin-like superfamily (1);	0.139564	0.32120	N	0.006556	T	0.00300	0.0009	M	0.76328	2.33	0.09310	N	1	D	0.63046	0.992	D	0.69479	0.964	T	0.51772	-0.8663	10	0.62326	D	0.03	.	2.8066	0.05429	0.1471:0.0985:0.3163:0.4381	.	271	A6NDL8	O6C68_HUMAN	D	276;271	ENSP00000368983:G276D;ENSP00000448811:G271D	ENSP00000368983:G276D	G	+	2	0	OR6C68	54173240	0.000000	0.05858	0.002000	0.10522	0.892000	0.51952	-0.578000	0.05841	0.002000	0.14630	0.596000	0.82720	GGT	OR6C68	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205327		0.358	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C68	HGNC	protein_coding	OTTHUMT00000406677.1	-	0	71	0	G			55886973	1	tier1	-	no_errors	ENST00000379662	ensembl	human	known	74_37	missense	19.48	62	15	SNP	0.000	A	A	55886973	G	A	55886973	3	1	168	1	0	0	0	0	1	0	0	0	11235	1261	44	3	829	3	OR6C68	12	55886973	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	23741629	55886973	77964922	183	42371											
AMDHD1	144193	genome.wustl.edu	37	chr12	96350673	96350673	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagatgctgcgcgtgattGagcgcgcccggcgggagctg	6	7	17	11	6	1	3	1	2	0	1	1	4	1	4	1	2	4	2	1	2	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr12:96350673G>C	ENST00000266736.2	+	4	626	c.520G>C	c.(520-522)Gag>Cag	p.E174Q		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	174					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						GCGCGTGATTGAGCGCGCCCG	0.617																																																	0													98	101	100					12																	96350673		2203	4300	6503	SO:0001583	missense	0			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.520G>C	12.37:g.96350673G>C	ENSP00000266736:p.Glu174Gln		A8K463|Q68CI8	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	p.E174Q	ENST00000266736.2	37	c.520	CCDS9057.1	12	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584591	0.46110	.	.	ENSG00000139344	ENST00000266736	T	0.40476	1.03	5.57	3.71	0.42584	Metal-dependent hydrolase, composite domain (1);	0.328646	0.37955	N	0.001879	T	0.32406	0.0828	L	0.31294	0.92	0.42157	D	0.99158	B	0.15473	0.013	B	0.20384	0.029	T	0.07927	-1.0747	10	0.46703	T	0.11	0.2129	12.7059	0.57060	0.0:0.1262:0.7422:0.1315	.	174	Q96NU7	HUTI_HUMAN	Q	174	ENSP00000266736:E174Q	ENSP00000266736:E174Q	E	+	1	0	AMDHD1	94874804	1.000000	0.71417	0.788000	0.31933	0.818000	0.46254	6.369000	0.73109	0.695000	0.31675	0.491000	0.48974	GAG	AMDHD1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	ENSG00000139344		0.617	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMDHD1	HGNC	protein_coding	OTTHUMT00000408640.1	-	0	53	0	G	NM_152435		96350673	1	tier1	-	no_errors	ENST00000266736	ensembl	human	known	74_37	missense	13.11	53	8	SNP	0.990	C	C	96350673	G	C	96350673	3	2	168	1	0	0	0	0	1	0	0	0	567	1291	45	5	534	5	AMDHD1	12	96350673	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	40463700	96350673	37501222	184	42372											
FAM71C	196472	genome.wustl.edu	37	chr12	100042091	100042091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggtatgcacccatgtttGagagcgactttatccagatc	10	12	9	10	1	1	2	1	1	0	2	3	4	2	2	2	1	2	3	2	1	2	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr12:100042091G>C	ENST00000324341.1	+	1	561	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	47										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ACCCATGTTTGAGAGCGACTT	0.517																																																	0													141	128	132					12																	100042091		2203	4300	6503	SO:0001583	missense	0				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.139G>C	12.37:g.100042091G>C	ENSP00000315247:p.Glu47Gln		B2R6Y6	Missense_Mutation	SNP	pfam_DUF3699	p.E47Q	ENST00000324341.1	37	c.139	CCDS9072.1	12	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622264	0.46840	.	.	ENSG00000180219	ENST00000324341	T	0.28895	1.59	3.89	3.0	0.34707	.	0.203319	0.34828	N	0.003646	T	0.48390	0.1497	M	0.72894	2.215	0.23282	N	0.997988	D	0.89917	1.0	D	0.77004	0.989	T	0.22347	-1.0219	9	.	.	.	-25.5464	7.263	0.26214	0.12:0.0:0.88:0.0	.	47	Q8NEG0	FA71C_HUMAN	Q	47	ENSP00000315247:E47Q	.	E	+	1	0	FAM71C	98566222	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	2.915000	0.48805	1.215000	0.43411	0.555000	0.69702	GAG	FAM71C	-	NULL	ENSG00000180219		0.517	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71C	HGNC	protein_coding	OTTHUMT00000408458.1	-	0	50	0	G	NM_153364		100042091	1	tier1	-	no_errors	ENST00000324341	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	C	C	100042091	G	C	100042091	3	2	168	1	0	0	0	0	1	0	0	0	5631	1291	45	5	141	5	FAM71C	12	100042091	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	3691418	100042091	33809804	185	42373											
RFX4	5992	genome.wustl.edu	37	chr12	107103153	107103153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaagcaactggatgagtgGctaaaagtggctctccacga	12	7	12	10	1	1	1	0	1	1	0	2	3	1	2	2	3	2	3	2	3	4	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr12:107103153G>T	ENST00000392842.1	+	9	1293	c.879G>T	c.(877-879)tgG>tgT	p.W293C	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.W302C|RFX4_ENST00000229387.5_Missense_Mutation_p.W199C	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	293					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						TGGATGAGTGGCTAAAAGTGG	0.433																																																	0													99	87	91					12																	107103153		2203	4300	6503	SO:0001583	missense	0			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.879G>T	12.37:g.107103153G>T	ENSP00000376585:p.Trp293Cys		A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.W302C	ENST00000392842.1	37	c.906	CCDS9106.1	12	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767125	0.90020	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.87809	-0.41;-0.41;-2.3;0.5	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.997	D;D;D;D	0.91635	0.999;0.993;0.993;0.977	D	0.94725	0.7904	10	0.87932	D	0	-8.6405	19.8155	0.96566	0.0:0.0:1.0:0.0	.	199;302;302;293	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	C	293;302;302;238;199	ENSP00000376585:W293C;ENSP00000350552:W302C;ENSP00000448694:W238C;ENSP00000229387:W199C	ENSP00000229387:W199C	W	+	3	0	RFX4	105627283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.682000	0.91365	0.650000	0.86243	TGG	RFX4	-	NULL	ENSG00000111783		0.433	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	-	0	84	0	G	NM_032491		107103153	1	tier1	-	no_errors	ENST00000357881	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	107103153	G	T	107103153	3	4	168	1	0	0	0	0	1	0	0	0	13310	1212	42	3	1086	3	RFX4	12	107103153	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	7061062	107103153	26748742	186	42374											
HNF1A	6927	genome.wustl.edu	37	chr12	121435420	121435420	+	Missense_Mutation	SNP	A	A	G	1	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	cacctgtgcagagccatgtgAcccagagccccttcatggcc	8	7	10	16	0	1	3	1	1	0	2	1	3	1	3	6	1	3	1	6	1	0	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr12:121435420A>G	ENST00000257555.6	+	7	1679	c.1453A>G	c.(1453-1455)Acc>Gcc	p.T485A	HNF1A_ENST00000544413.1_Missense_Mutation_p.T485A|HNF1A_ENST00000541395.1_Missense_Mutation_p.T485A|HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000400024.2_Missense_Mutation_p.T485A|HNF1A_ENST00000538626.1_Missense_Mutation_p.T67A|RP11-216P16.2_ENST00000606238.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	485					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)					GAGCCATGTGACCCAGAGCCC	0.652									Hepatic Adenoma, Familial Clustering of																																								0													30	29	29					12																	121435420		2203	4300	6503	SO:0001583	missense	0	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.1453A>G	12.37:g.121435420A>G	ENSP00000257555:p.Thr485Ala		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.T485A	ENST00000257555.6	37	c.1453	CCDS9209.1	12	.	.	.	.	.	.	.	.	.	.	A	0.038	-1.295988	0.01375	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000340577;ENST00000544413	D;D;D	0.96716	-4.1;-4.1;-4.1	4.49	2.64	0.31445	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.421727	0.21678	N	0.070776	T	0.80602	0.4654	N	0.00399	-1.545	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.74973	-0.3481	10	0.02654	T	1	-17.954	7.1317	0.25504	0.3222:0.0:0.6778:0.0	.	485;485;485	F5H0K0;P20823;E7EUQ4	.;HNF1A_HUMAN;.	A	485;377;485;306;485;485;485	ENSP00000257555:T485A;ENSP00000443112:T485A;ENSP00000438804:T485A	ENSP00000257555:T485A	T	+	1	0	HNF1A	119919803	1.000000	0.71417	0.979000	0.43373	0.453000	0.32348	1.807000	0.38902	0.504000	0.28082	-0.242000	0.12053	ACC	HNF1A	-	pfam_HNF1b_C	ENSG00000135100		0.652	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1A	HGNC	protein_coding	OTTHUMT00000320957.5	-	0	26	0	A	NM_000545		121435420	1	tier1	-	no_errors	ENST00000257555	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	G	G	121435420	A	G	121435420	3	3	168	1	0	0	0	0	1	0	0	0	7278	275	10	4	1479	4	HNF1A	12	121435420	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	14332267	121435420	12416475	187	42375											
ANAPC5	51433	genome.wustl.edu	37	chr12	121775156	121775156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccttctgcaaggaagctgGagtgagggccttagtctcat	8	12	12	9	0	2	1	1	1	2	0	4	3	3	3	2	3	2	2	2	3	3	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr12:121775156G>T	ENST00000261819.3	-	6	818	c.697C>A	c.(697-699)Cca>Aca	p.P233T	ANAPC5_ENST00000541887.1_Missense_Mutation_p.P233T|ANAPC5_ENST00000536366.1_Missense_Mutation_p.P112T|ANAPC5_ENST00000544314.1_5'Flank|ANAPC5_ENST00000344395.4_Missense_Mutation_p.P134T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P134T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	233					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)	p.P233T(1)		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)					AAGGAAGCTGGAGTGAGGGCC	0.358																																																	1	Substitution - Missense(1)	lung(1)											90	91	91					12																	121775156		2203	4300	6503	SO:0001583	missense	0			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.697C>A	12.37:g.121775156G>T	ENSP00000261819:p.Pro233Thr		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	smart_TPR_repeat	p.P233T	ENST00000261819.3	37	c.697	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779265	0.90195	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.80754	-0.1241	10	0.87932	D	0	.	20.0627	0.97684	0.0:0.0:1.0:0.0	.	134;233	E9PFB2;Q9UJX4	.;APC5_HUMAN	T	134;233;233;134;112;134	ENSP00000415061:P134T;ENSP00000439875:P233T;ENSP00000261819:P233T;ENSP00000343787:P134T;ENSP00000445310:P112T;ENSP00000440800:P134T	ENSP00000261819:P233T	P	-	1	0	ANAPC5	120259539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.078000	0.94023	2.816000	0.96949	0.563000	0.77884	CCA	ANAPC5	-	NULL	ENSG00000089053		0.358	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	HGNC	protein_coding	OTTHUMT00000402582.1		0	44	0	G			121775156	-1			no_errors	ENST00000261819	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	121775156	G	T	121775156	3	4	168	1	0	0	0	0	1	0	0	0	605	1174	41	3	1618	3	ANAPC5	12	121775156	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	339736	121775156	12076739	188	42376											
SAP18	10284	genome.wustl.edu	37	chr13	21721403	21721403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcagtcgcagaagttccaGataggagattacttggacat	12	10	11	8	1	0	3	0	0	0	3	2	5	1	4	1	2	2	3	1	2	3	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr13:21721403G>C	ENST00000607003.1	+	4	416	c.384G>C	c.(382-384)caG>caC	p.Q128H	SAP18_ENST00000382533.4_Missense_Mutation_p.Q147H			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	128	Involved in splicing regulation activity.				mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		AGAAGTTCCAGATAGGAGATT	0.443																																																	0													125	126	125					13																	21721403		2203	4300	6503	SO:0001583	missense	0			U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"sin3A-associated protein, 18kDa"			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.384G>C	13.37:g.21721403G>C	ENSP00000475925:p.Gln128His		B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	pfam_SAP18,pirsf_Hist_deAcase_cplx_SAP18	p.Q128H	ENST00000607003.1	37	c.384		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.87|13.87	2.367490|2.367490	0.42003|0.42003	.|.	.|.	ENSG00000150459|ENSG00000150459	ENST00000450573|ENST00000382533	.|.	.|.	.|.	5.87|5.87	-5.53|-5.53	0.02552|0.02552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67040|0.67040	0.2851|0.2851	M|M	0.73962|0.73962	2.25|2.25	0.54753|0.54753	D|D	0.999987|0.999987	.|B	.|0.21381	.|0.055	.|B	.|0.31390	.|0.129	T|T	0.57906|0.57906	-0.7730|-0.7730	5|9	.|0.48119	.|T	.|0.1	-19.0804|-19.0804	20.6322|20.6322	0.99526|0.99526	0.1655:0.0:0.8345:0.0|0.1655:0.0:0.8345:0.0	.|.	.|128	.|O00422	.|SAP18_HUMAN	H|H	142|147	.|.	.|ENSP00000371973:Q147H	D|Q	+|+	1|3	0|2	SAP18|SAP18	20619403|20619403	1.000000|1.000000	0.71417|0.71417	0.685000|0.685000	0.30070|0.30070	0.971000|0.971000	0.66376|0.66376	0.863000|0.863000	0.27913|0.27913	-0.955000|-0.955000	0.03636|0.03636	-0.345000|-0.345000	0.07892|0.07892	GAT|CAG	SAP18	-	pfam_SAP18,pirsf_Hist_deAcase_cplx_SAP18	ENSG00000150459		0.443	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	SAP18	HGNC	protein_coding	OTTHUMT00000470725.1	-	0	59	0	G	NM_005870		21721403	1	tier1	-	no_errors	ENST00000607003	ensembl	human	putative	74_37	missense	27.91	31	12	SNP	0.997	C	C	21721403	G	C	21721403	3	2	168	1	0	0	0	0	1	0	0	0	13877	933	33	5	455	5	SAP18	13	21721403	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09		21721403	93448475	189	42377											
FLT3	2322	genome.wustl.edu	37	chr13	28602427	28602427	+	Splice_Site	SNP	T	T	A	0	1	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	tcagagctgtctgctttttcTgtcaaagaaaggagcattaa	12	13	9	7	0	4	2	2	0	2	2	4	3	4	3	0	1	3	3	0	1	3	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr13:28602427T>A	ENST00000241453.7	-	16	2024		c.e16-2		FLT3_ENST00000380982.4_Splice_Site|FLT3_ENST00000537084.1_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						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)	p.?(1)		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)	CTGCTTTTTCTGTCAAAGAAA	0.383			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	1	Unknown(1)	lung(1)											59	51	54					13																	28602427		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1943-2A>T	13.37:g.28602427T>A			A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Splice_Site	SNP	-	e16-2	ENST00000241453.7	37	c.1943-2	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936179	0.73442	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6684	0.77252	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT3	27500427	1.000000	0.71417	0.993000	0.49108	0.755000	0.42902	7.759000	0.85235	2.086000	0.62901	0.454000	0.30748	.	FLT3	-	-	ENSG00000122025		0.383	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2		0	48	0	T		Intron	28602427	-1			no_errors	ENST00000380982	ensembl	human	known	74_37	splice_site	5.41	35	2	SNP	1.000	A	A	28602427	T	A	28602427	5	1	168	1	0	0	0	0	0	0	1	0	5964	1594	55	5	1076	5	FLT3	13	28602427	Splice_Site	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	6881024	28602427	86567451	190	42378											
FLT1	2321	genome.wustl.edu	37	chr13	28964125	28964125	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttctgttattaactgtccGcagtaaaatccaagtaacgt	12	14	7	8	2	1	0	0	0	1	0	3	0	3	0	2	0	2	5	2	0	6	5	rs377395740	byFrequency	TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr13:28964125G>T	ENST00000282397.4	-	13	2028	c.1777C>A	c.(1777-1779)Cgg>Agg	p.R593R	FLT1_ENST00000541932.1_Silent_p.R593R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	593	Ig-like C2-type 6.				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)	p.R593W(2)		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)	TTAACTGTCCGCAGTAAAATC	0.393																																																	2	Substitution - Missense(2)	lung(2)											235	205	215					13																	28964125		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1777C>A	13.37:g.28964125G>T			A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.R593	ENST00000282397.4	37	c.1777	CCDS9330.1	13																																																																																			FLT1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000102755		0.393	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1		0	56	0	G			28964125	-1			no_errors	ENST00000282397	ensembl	human	known	74_37	silent	6.25	45	3	SNP	1.000	T	T	28964125	G	T	28964125	2	4	168	1	0	0	0	0	0	0	0	1	5963	1086	38	2		2	FLT1	13	28964125	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	361698	28964125	86205753	191	42379											
KBTBD7	84078	genome.wustl.edu	37	chr13	41766370	41766370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgctgatcctgtgcatttCgctgaggtgctacttgcacc	5	13	10	13	1	0	2	0	2	0	0	2	2	1	2	3	1	5	5	3	1	1	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr13:41766370C>T	ENST00000379483.3	-	1	2332	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	675										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CTGTGCATTTCGCTGAGGTGC	0.398																																																	0													111	108	109					13																	41766370		2203	4300	6503	SO:0001583	missense	0			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.2024G>A	13.37:g.41766370C>T	ENSP00000368797:p.Arg675Gln		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R675Q	ENST00000379483.3	37	c.2024	CCDS9377.1	13	.	.	.	.	.	.	.	.	.	.	C	7.794	0.712130	0.15306	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.74421	-0.84	5.06	5.06	0.68205	.	0.270963	0.19619	N	0.109957	T	0.61035	0.2315	N	0.14661	0.345	0.41827	D	0.990051	B	0.24651	0.108	B	0.22386	0.039	T	0.61763	-0.6996	10	0.62326	D	0.03	.	15.9447	0.79784	0.0:1.0:0.0:0.0	.	675	Q8WVZ9	KBTB7_HUMAN	Q	675;577	ENSP00000368797:R675Q	ENSP00000368797:R675Q	R	-	2	0	KBTBD7	40664370	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	1.482000	0.35486	2.613000	0.88420	0.557000	0.71058	CGA	KBTBD7	-	NULL	ENSG00000120696		0.398	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1	-	0	66	0	C	NM_032138		41766370	-1	tier1	-	no_errors	ENST00000379483	ensembl	human	known	74_37	missense	11.11	39	5	SNP	0.981	T	T	41766370	C	T	41766370	3	4	168	1	0	0	0	0	1	0	0	0	8025	884	31	1	34	1	KBTBD7	13	41766370	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	12802245	41766370	73403508	192	42380											
MYO16	23026	genome.wustl.edu	37	chr13	109562480	109562480	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatatggacttcatcttaAtaatttatgtgcacaccggt	14	14	6	7	1	2	0	1	0	1	0	2	1	2	1	1	2	1	1	1	2	6	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr13:109562480A>C	ENST00000357550.2	+	15	1882	c.1841A>C	c.(1840-1842)aAt>aCt	p.N614T	MYO16_ENST00000457511.2_Missense_Mutation_p.N126T|MYO16_ENST00000251041.5_Missense_Mutation_p.N614T|MYO16_ENST00000356711.2_Missense_Mutation_p.N614T	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)			CTTCATCTTAATAATTTATGT	0.348																																																	0													141	150	147					13																	109562480		2203	4300	6503	SO:0001583	missense	0				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.1841A>C	13.37:g.109562480A>C	ENSP00000350160:p.Asn614Thr			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N614T	ENST00000357550.2	37	c.1841	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	A	4.667	0.124049	0.08931	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.2	-1.87	0.07737	Myosin head, motor domain (2);	0.527932	0.15436	U	0.262429	T	0.74642	0.3743	N	0.04746	-0.17	0.09310	N	1	P;B;P	0.45044	0.575;0.348;0.849	B;B;P	0.47299	0.167;0.108;0.543	T	0.69347	-0.5169	9	.	.	.	.	10.7878	0.46415	0.489:0.0:0.511:0.0	.	126;614;614	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	T	614;614;614;614;402;126	ENSP00000349145:N614T;ENSP00000350160:N614T;ENSP00000251041:N614T;ENSP00000401633:N126T	.	N	+	2	0	MYO16	108360481	0.000000	0.05858	0.000000	0.03702	0.387000	0.30353	-0.569000	0.05902	-0.570000	0.06022	0.482000	0.46254	AAT	MYO16	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000041515		0.348	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1		0	61	0	A	NM_015011		109562480	1			no_errors	ENST00000356711	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.003	C	C	109562480	A	C	109562480	3	2	168	1	0	0	0	0	1	0	0	0	10102	101	4	4	1899	4	MYO16	13	109562480	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	67796110	109562480	5607398	193	42381											
COL4A1	1282	genome.wustl.edu	37	chr13	110866296	110866296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcctggtggtccctgtgGcccctcaggtccttgcattc	2	14	11	14	0	1	0	1	0	0	0	5	0	4	0	5	4	1	1	5	4	0	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr13:110866296G>T	ENST00000375820.4	-	3	332	c.211C>A	c.(211-213)Cca>Aca	p.P71T	COL4A1_ENST00000543140.1_Missense_Mutation_p.P71T	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	71					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)			GGTCCCTGTGGCCCCTCAGGT	0.537																																																	0													214	188	197					13																	110866296		2203	4300	6503	SO:0001583	missense	0			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.211C>A	13.37:g.110866296G>T	ENSP00000364979:p.Pro71Thr		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P71T	ENST00000375820.4	37	c.211	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739698	0.69304	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.93076	-3.16;-3.16	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	L	0.37630	1.12	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.979	D	0.91271	0.5044	10	0.11182	T	0.66	.	18.3571	0.90361	0.0:0.0:1.0:0.0	.	71;71	F5H5K0;P02462	.;CO4A1_HUMAN	T	71	ENSP00000364979:P71T;ENSP00000443348:P71T	ENSP00000364973:P71T	P	-	1	0	COL4A1	109664297	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	8.367000	0.90113	2.330000	0.79161	0.643000	0.83706	CCA	COL4A1	-	pfam_Collagen	ENSG00000187498		0.537	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	-	0	69	0	G			110866296	-1	tier1	-	no_errors	ENST00000375820	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	110866296	G	T	110866296	3	4	168	1	0	0	0	0	1	0	0	0	3696	1203	42	3	4998	3	COL4A1	13	110866296	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1303816	110866296	4303582	194	42382											
ADPRHL1	113622	genome.wustl.edu	37	chr13	114079399	114079399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctgcatcataattgtcggGgaagatggctttattttctg	8	17	10	6	1	3	1	1	0	2	1	4	2	3	2	0	3	1	2	0	3	3	7			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr13:114079399G>T	ENST00000375418.3	-	5	828	c.742C>A	c.(742-744)Ccc>Acc	p.P248T	ADPRHL1_ENST00000356501.4_Missense_Mutation_p.P166T	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	248					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TAATTGTCGGGGAAGATGGCT	0.428																																																	0													245	226	232					13																	114079399		2203	4299	6502	SO:0001583	missense	0			AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.742C>A	13.37:g.114079399G>T	ENSP00000364567:p.Pro248Thr		Q5JUG2|Q96GD1	Missense_Mutation	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	p.P248T	ENST00000375418.3	37	c.742	CCDS9535.1	13	.	.	.	.	.	.	.	.	.	.	g	15.78	2.933468	0.52866	.	.	ENSG00000153531	ENST00000356501;ENST00000375418;ENST00000413169	T	0.58652	0.32	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.80969	0.4726	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82802	-0.0277	10	0.41790	T	0.15	-15.1932	18.8087	0.92048	0.0:0.0:1.0:0.0	.	248	Q8NDY3	ARHL1_HUMAN	T	166;248;166	ENSP00000364567:P248T	ENSP00000348894:P166T	P	-	1	0	ADPRHL1	113127400	1.000000	0.71417	0.769000	0.31535	0.022000	0.10575	8.734000	0.91543	2.449000	0.82847	0.550000	0.68814	CCC	ADPRHL1	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	ENSG00000153531		0.428	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRHL1	HGNC	protein_coding	OTTHUMT00000045915.2	-	0	64	0	G	NM_138430		114079399	-1	tier1	-	no_errors	ENST00000375418	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	114079399	G	T	114079399	3	4	168	1	0	0	0	0	1	0	0	0	332	1232	43	3	334	3	ADPRHL1	13	114079399	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	3213103	114079399	1090479	195	42383											
ZNF828	283489	genome.wustl.edu	37	chr13	115089417	115089417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaatgtacaaatccatatgGgtaccatccatccagaattt	16	11	5	9	0	0	1	0	0	0	1	3	1	3	1	4	1	2	2	4	1	7	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr13:115089417G>T	ENST00000361283.1	+	3	409	c.100G>T	c.(100-102)Ggt>Tgt	p.G34C		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	34					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)										AATCCATATGGGTACCATCCA	0.403																																																	0													122	115	117					13																	115089417		2203	4300	6503	SO:0001583	missense	0			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.100G>T	13.37:g.115089417G>T	ENSP00000354730:p.Gly34Cys		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G34C	ENST00000361283.1	37	c.100	CCDS9545.1	13	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525223	0.85600	.	.	ENSG00000198824	ENST00000361283	T	0.01821	4.62	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000019	T	0.06781	0.0173	L	0.34521	1.04	0.51233	D	0.999917	D	0.89917	1.0	D	0.97110	1.0	T	0.54009	-0.8357	9	.	.	.	-8.4897	20.1184	0.97949	0.0:0.0:1.0:0.0	.	34	Q96JM3	ZN828_HUMAN	C	34	ENSP00000354730:G34C	.	G	+	1	0	ZNF828	114107519	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.139000	0.71728	2.769000	0.95229	0.655000	0.94253	GGT	CHAMP1	-	smart_Znf_C2H2-like	ENSG00000198824		0.403	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAMP1	HGNC	protein_coding	OTTHUMT00000045977.2	-	0	55	0	G	NM_032436		115089417	1	tier1	-	no_errors	ENST00000361283	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	115089417	G	T	115089417	3	4	168	1	0	0	0	0	1	0	0	0	18229	1232	43	3	102	3	ZNF828	13	115089417	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1010018	115089417	80461	196	42384											
MYH6	4624	genome.wustl.edu	37	chr14	23855576	23855576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgggcctcggcagccatgCggttggcgtggctgagctgg	3	9	18	11	3	1	1	0	1	1	0	2	1	1	1	2	6	3	4	2	6	0	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr14:23855576C>T	ENST00000356287.3	-	32	4936	c.4907G>A	c.(4906-4908)cGc>cAc	p.R1636H	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.R1636H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1636					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)		GGCAGCCATGCGGTTGGCGTG	0.612																																																	0													90	84	86					14																	23855576		2203	4300	6503	SO:0001583	missense	0			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.4907G>A	14.37:g.23855576C>T	ENSP00000348634:p.Arg1636His		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1636H	ENST00000356287.3	37	c.4907	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676857	0.88445	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.81908	-1.55;-1.55	4.5	4.5	0.54988	Myosin tail (1);	.	.	.	.	D	0.85195	0.5641	M	0.80746	2.51	0.46927	D	0.999254	P	0.35411	0.5	B	0.37198	0.243	D	0.87874	0.2673	9	0.87932	D	0	.	17.5797	0.87963	0.0:1.0:0.0:0.0	.	1636	P13533	MYH6_HUMAN	H	1636	ENSP00000386041:R1636H;ENSP00000348634:R1636H	ENSP00000348634:R1636H	R	-	2	0	MYH6	22925416	0.853000	0.29707	0.035000	0.18076	0.660000	0.38997	7.682000	0.84083	2.203000	0.70933	0.561000	0.74099	CGC	MYH6	-	pfam_Myosin_tail	ENSG00000197616		0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3		0	50	0	C			23855576	-1			no_errors	ENST00000356287	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.884	T	T	23855576	C	T	23855576	3	4	168	1	0	0	0	0	1	0	0	0	10076	768	27	1	940	1	MYH6	14	23855576	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09		23855576	83493964	197	42385											
NIN	51199	genome.wustl.edu	37	chr14	51192707	51192707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcactttctcttgaagaagCcttttcactagtttcagttt	8	19	5	9	0	4	2	3	1	1	1	5	2	4	2	1	0	1	2	1	0	3	8	rs534805269		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr14:51192707C>A	ENST00000382041.3	-	30	6346	c.6156G>T	c.(6154-6156)agG>agT	p.R2052S	RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000530997.2_Missense_Mutation_p.R2052S|NIN_ENST00000382043.4_Missense_Mutation_p.R1339S|NIN_ENST00000245441.5_Missense_Mutation_p.R2052S	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2052					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)					CTTGAAGAAGCCTTTTCACTA	0.413			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													235	201	213					14																	51192707		2203	4300	6503	SO:0001583	missense	0			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.6156G>T	14.37:g.51192707C>A	ENSP00000371472:p.Arg2052Ser		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.R2052S	ENST00000382041.3	37	c.6156	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.40|12.40	1.925853|1.925853	0.34002|0.34002	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869|ENST00000245441;ENST00000311149;ENST00000382043;ENST00000324292;ENST00000382041	.|T;T;T	.|0.29142	.|1.58;2.64;3.16	5.93|5.93	-2.72|-2.72	0.05968|0.05968	.|.	.|0.368313	.|0.29280	.|N	.|0.012612	T|T	0.20495|0.20495	0.0493|0.0493	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.15473	.|0.001;0.007;0.013;0.007	.|B;B;B;B	.|0.14578	.|0.004;0.011;0.003;0.011	T|T	0.23868|0.23868	-1.0176|-1.0176	5|10	.|0.10377	.|T	.|0.69	-16.181|-16.181	6.761|6.761	0.23540|0.23540	0.0:0.4646:0.1915:0.3439|0.0:0.4646:0.1915:0.3439	.|.	.|2058;2052;1339;2052	.|Q8N4C6-5;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;NIN_HUMAN;.;.	S|S	1543|2052;2035;1339;2058;2052	.|ENSP00000245441:R2052S;ENSP00000371474:R1339S;ENSP00000371472:R2052S	.|ENSP00000245441:R2052S	A|R	-|-	1|3	0|2	NIN|NIN	50262457|50262457	0.986000|0.986000	0.35501|0.35501	0.908000|0.908000	0.35775|0.35775	0.688000|0.688000	0.40055|0.40055	0.295000|0.295000	0.19065|0.19065	-0.572000|-0.572000	0.06006|0.06006	-3.186000|-3.186000	0.00055|0.00055	GCT|AGG	NIN	-	NULL	ENSG00000100503		0.413	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	-	0	97	0	C	NM_182946		51192707	-1	tier1	-	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	25.93	60	21	SNP	0.994	A	A	51192707	C	A	51192707	3	1	168	1	0	0	0	0	1	0	0	0	10456	738	26	3	334	3	NIN	14	51192707	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	27337131	51192707	56156833	198	42386											
PPM1A	5494	genome.wustl.edu	37	chr14	60712739	60712739	+	5'UTR	SNP	G	G	A	0	0	1	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	ggaaaccaaatgaagaggatGtgtgagagaaaaaaatatga	21	6	12	2	0	0	5	0	3	0	2	0	8	0	7	1	2	1	0	1	2	7	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr14:60712739G>A	ENST00000529574.1	+	0	265				PPM1A_ENST00000325642.3_Missense_Mutation_p.M58I|CTD-2184C24.2_ENST00000553269.1_RNA|CTD-2184C24.2_ENST00000532515.1_RNA|CTD-2184C24.2_ENST00000529171.1_RNA|CTD-2184C24.2_ENST00000553775.1_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)		TGAAGAGGATGTGTGAGAGAA	0.418																																																	0													114	116	115					14																	60712739		1567	3580	5147	SO:0001623	5_prime_UTR_variant	0			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.-133G>A	14.37:g.60712739G>A			B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom	p.M58I	ENST00000529574.1	37	c.174	CCDS9744.1	14	.	.	.	.	.	.	.	.	.	.	G	5.992	0.366896	0.11352	.	.	ENSG00000100614	ENST00000325642	T	0.28895	1.59	3.65	-7.31	0.01441	.	.	.	.	.	T	0.13500	0.0327	N	0.08118	0	0.37392	D	0.912489	.	.	.	.	.	.	T	0.27971	-1.0058	7	0.22109	T	0.4	.	9.3548	0.38159	0.7236:0.1183:0.1582:0.0	.	.	.	.	I	58	ENSP00000327255:M58I	ENSP00000327255:M58I	M	+	3	0	PPM1A	59782492	0.000000	0.05858	0.001000	0.08648	0.260000	0.26232	-2.820000	0.00749	-2.044000	0.00911	-0.657000	0.03884	ATG	PPM1A	-	NULL	ENSG00000100614		0.418	PPM1A-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPM1A	HGNC	protein_coding		-	0	50	0	G	NM_021003		60712739	1	tier1	-	no_errors	ENST00000325642	ensembl	human	known	74_37	missense	14.29	48	8	SNP	0.001	A	A	60712739	G	A	60712739	1	1	168	0	1	0	0	0	0	0	0	0	12377	1377	48	3		3	PPM1A	14	60712739	5'UTR	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	9520032	60712739	46636801	199	42387											
ZFYVE26	23503	genome.wustl.edu	37	chr14	68228958	68228958	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtggactctaggtactCaaccacatcctgcaccagcc	10	8	7	16	0	2	0	1	0	1	0	3	1	3	1	4	2	4	2	4	2	3	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr14:68228958C>A	ENST00000347230.4	-	34	6469	c.6331G>T	c.(6331-6333)Gag>Tag	p.E2111*	ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.E2111*|ZFYVE26_ENST00000557306.1_5'Flank	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2111					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)	p.E2111Q(1)		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)		TCTAGGTACTCAACCACATCC	0.542																																																	1	Substitution - Missense(1)	lung(1)											104	85	91					14																	68228958		2203	4300	6503	SO:0001587	stop_gained	0			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.6331G>T	14.37:g.68228958C>A	ENSP00000251119:p.Glu2111*		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Nonsense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E2111*	ENST00000347230.4	37	c.6331	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	C	47	13.563725	0.99750	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	.	.	.	5.36	5.36	0.76844	.	0.188984	0.46758	D	0.000265	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-11.7035	13.7087	0.62654	0.0:0.7183:0.2817:0.0	.	.	.	.	X	2111;2090;2111	.	ENSP00000251119:E2111X	E	-	1	0	ZFYVE26	67298711	1.000000	0.71417	0.992000	0.48379	0.799000	0.45148	5.759000	0.68785	2.515000	0.84797	0.655000	0.94253	GAG	ZFYVE26	-	NULL	ENSG00000072121		0.542	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2		0	50	0	C	NM_015346		68228958	-1			no_errors	ENST00000347230	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.996	A	A	68228958	C	A	68228958	4	1	168	1	0	0	0	0	0	1	0	0	17716	835	29	3	1324	3	ZFYVE26	14	68228958	Nonsense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	7516219	68228958	39120582	200	42388											
ADAM20	8748	genome.wustl.edu	37	chr14	70989758	70989759	+	Frame_Shift_Ins	INS	-	-	A																															gaatgctctatcagattgggINSaattactcccacattttcac																										TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr14:70989758_70989759insA	ENST00000256389.3	-	2	2110_2111	c.1866_1867insT	c.(1864-1869)attcccfs	p.P623fs	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	573	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATCAGATTGGGAATTACTCCCA	0.446																																																	0																																										SO:0001589	frameshift_variant	0			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.1867dupT	14.37:g.70989760_70989760dupA	ENSP00000256389:p.Pro623fs		Q6GTZ1|Q9UKJ9	Frame_Shift_Ins	INS	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P622fs	ENST00000256389.3	37	c.1867_1866	CCDS32111.1	14																																																																																			ADAM20	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000134007		0.446	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM20	HGNC	protein_coding	OTTHUMT00000395004.2		0	22	0	-			70989759	-1	tier1		no_errors	ENST00000256389	ensembl	human	known	74_37	frame_shift_ins	38.24	21	13	INS	0.182:0.156	A	A	70989759	-	A	70989758	7	5	168	1	0	1	1	0	0	0	0	0	242	1174	41	0	467	0	ADAM20	14	70989758	Frame_Shift_Ins	INS	-	TCGA-VR-A8EX-01A-11D-A36J-09	2760800	70989758	36359782	201	42389											
KCNK10	54207	genome.wustl.edu	37	chr14	88729764	88729764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcccccttgggaggtgcCttccatcctggctaccactg	6	9	10	16	0	0	0	0	0	0	0	2	1	2	1	6	3	3	1	6	3	2	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr14:88729764C>T	ENST00000340700.5	-	2	620	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	KCNK10_ENST00000319231.5_Missense_Mutation_p.G62S|KCNK10_ENST00000312350.5_Missense_Mutation_p.G62S	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	57					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						TGGGAGGTGCCTTCCATCCTG	0.612																																																	0													102	94	97					14																	88729764		2203	4300	6503	SO:0001583	missense	0			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.169G>A	14.37:g.88729764C>T	ENSP00000343104:p.Gly57Ser		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.G62S	ENST00000340700.5	37	c.184	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	C	7.689	0.690591	0.15039	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	D;D;D;T	0.90133	-2.62;-2.62;-2.61;1.04	5.87	4.77	0.60923	.	0.252400	0.44688	D	0.000438	T	0.77811	0.4186	N	0.05078	-0.115	0.29238	N	0.872837	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.65265	-0.6210	10	0.21014	T	0.42	.	10.3622	0.44001	0.0:0.8273:0.0:0.1727	.	57;62;62	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	S	57;62;62;45	ENSP00000343104:G57S;ENSP00000310568:G62S;ENSP00000312811:G62S;ENSP00000452587:G45S	ENSP00000310568:G62S	G	-	1	0	KCNK10	87799517	0.909000	0.30893	1.000000	0.80357	0.995000	0.86356	1.045000	0.30341	2.941000	0.99782	0.655000	0.94253	GGC	KCNK10	-	NULL	ENSG00000100433		0.612	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	HGNC	protein_coding	OTTHUMT00000410167.1		0	70	0	C	NM_021161		88729764	-1			no_errors	ENST00000312350	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.990	T	T	88729764	C	T	88729764	3	4	168	1	0	0	0	0	1	0	0	0	8086	681	24	3	1471	3	KCNK10	14	88729764	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	17740006	88729764	18619776	202	42390											
PSMC1	5700	genome.wustl.edu	37	chr14	90725515	90725515	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctccagggtcaaagtcaGagtggtggtcatggtcctgg	7	10	14	10	0	3	1	3	0	0	1	6	1	6	1	3	5	0	0	3	5	1	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr14:90725515G>C	ENST00000261303.8	+	2	118	c.15G>C	c.(13-15)caG>caC	p.Q5H	PSMC1_ENST00000543772.2_5'UTR	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		GTCAAAGTCAGAGTGGTGGTC	0.403																																																	0													124	120	121					14																	90725515		2203	4300	6503	SO:0001583	missense	0			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.15G>C	14.37:g.90725515G>C	ENSP00000261303:p.Gln5His		B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.Q5H	ENST00000261303.8	37	c.15	CCDS32139.1	14	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332774	0.41297	.	.	ENSG00000100764	ENST00000261303	D	0.94758	-3.51	4.9	4.0	0.46444	.	0.514876	0.20757	N	0.086222	D	0.93161	0.7822	M	0.79123	2.44	0.80722	D	1	P	0.39520	0.676	B	0.36030	0.216	D	0.92555	0.6053	10	0.46703	T	0.11	-16.5678	13.0149	0.58751	0.0785:0.0:0.9215:0.0	.	5	P62191	PRS4_HUMAN	H	5	ENSP00000261303:Q5H	ENSP00000261303:Q5H	Q	+	3	2	PSMC1	89795268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.595000	0.46197	1.428000	0.47296	0.655000	0.94253	CAG	PSMC1	-	NULL	ENSG00000100764		0.403	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC1	HGNC	protein_coding	OTTHUMT00000411253.1	-	0	60	0	G	NM_002802		90725515	1	tier1	-	no_errors	ENST00000261303	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	C	C	90725515	G	C	90725515	3	2	168	1	0	0	0	0	1	0	0	0	12727	933	33	5	21	5	PSMC1	14	90725515	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1995751	90725515	16624025	203	42391											
EML1	2009	genome.wustl.edu	37	chr14	100406345	100406345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagccacatctacggcGggcacagcagccatgtcacc	10	5	9	17	2	2	0	1	0	1	0	3	0	3	0	4	2	4	2	4	2	2	1	rs369564518		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr14:100406345G>T	ENST00000262233.6	+	22	2483	c.2344G>T	c.(2344-2346)Ggg>Tgg	p.G782W	EML1_ENST00000327921.9_Missense_Mutation_p.G770W|EML1_ENST00000334192.4_Missense_Mutation_p.G801W	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	782	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CATCTACGGCGGGCACAGCAG	0.542																																																	0													109	88	95					14																	100406345		2203	4300	6503	SO:0001583	missense	0			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2344G>T	14.37:g.100406345G>T	ENSP00000262233:p.Gly782Trp		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G801W	ENST00000262233.6	37	c.2401	CCDS32155.1	14	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124082	0.77436	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.70869	-0.52;-0.52;-0.52	4.71	4.71	0.59529	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89986	0.6874	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93923	0.7207	10	0.87932	D	0	-18.0684	17.6632	0.88198	0.0:0.0:1.0:0.0	.	770;782;801	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	W	770;782;801;801	ENSP00000327384:G770W;ENSP00000262233:G782W;ENSP00000334314:G801W	ENSP00000262233:G782W	G	+	1	0	EML1	99476098	1.000000	0.71417	0.943000	0.38184	0.617000	0.37484	9.675000	0.98638	2.169000	0.68431	0.655000	0.94253	GGG	EML1	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000066629		0.542	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	HGNC	protein_coding	OTTHUMT00000413943.1		0	32	0	G	NM_001008707		100406345	1			no_errors	ENST00000334192	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	100406345	G	T	100406345	3	4	168	1	0	0	0	0	1	0	0	0	5112	1116	39	2	2491	2	EML1	14	100406345	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	9680830	100406345	6943195	204	42392											
AHNAK2	113146	genome.wustl.edu	37	chr14	105416927	105416927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacctccatgctggacaGagacatcttcacatcggggg	9	8	11	13	1	2	1	1	0	1	1	5	3	4	2	3	3	1	1	3	3	0	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr14:105416927G>T	ENST00000333244.5	-	7	4980	c.4861C>A	c.(4861-4863)Ctg>Atg	p.L1621M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1621						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)			ATGCTGGACAGAGACATCTTC	0.617																																																	0													93	112	106					14																	105416927		1833	4034	5867	SO:0001583	missense	0			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.4861C>A	14.37:g.105416927G>T	ENSP00000353114:p.Leu1621Met		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1621M	ENST00000333244.5	37	c.4861	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	g	12.72	2.021710	0.35701	.	.	ENSG00000185567	ENST00000333244	T	0.03004	4.08	3.97	1.91	0.25777	.	.	.	.	.	T	0.14442	0.0349	M	0.83953	2.67	0.09310	N	1	D	0.71674	0.998	D	0.70935	0.971	T	0.08827	-1.0703	9	0.32370	T	0.25	.	6.5378	0.22363	0.0963:0.0:0.7284:0.1753	.	1621	Q8IVF2	AHNK2_HUMAN	M	1621	ENSP00000353114:L1621M	ENSP00000353114:L1621M	L	-	1	2	AHNAK2	104487972	0.027000	0.19231	0.098000	0.21074	0.149000	0.21700	0.478000	0.22212	0.625000	0.30304	0.485000	0.47835	CTG	AHNAK2	-	NULL	ENSG00000185567		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	76	0	G	NM_138420		105416927	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.129	T	T	105416927	G	T	105416927	3	4	168	1	0	0	0	0	1	0	0	0	415	933	33	3	12530	3	AHNAK2	14	105416927	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	5010582	105416927	1932613	205	42393											
BTBD6	90135	genome.wustl.edu	37	chr14	105716550	105716550	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaccaagaggaagggcctCgccccgcagaggtgccaccg	9	3	14	15	3	0	3	0	1	0	2	1	4	0	4	6	3	1	1	6	3	2	0	rs371770383		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr14:105716550C>T	ENST00000392554.3	+	4	1296	c.999C>T	c.(997-999)ctC>ctT	p.L333L	BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000536364.1_Silent_p.L333L|BTBD6_ENST00000327471.3_Silent_p.L258L|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000392557.4_5'Flank|BRF1_ENST00000446501.2_5'Flank|BTBD6_ENST00000463376.2_Silent_p.L258L			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	333						cytoplasm (GO:0005737)				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GGAAGGGCCTCGCCCCGCAGA	0.622																																																	0								C	,,,,	1,4405		0,1,2202	36	43	41		,,,,999	-10.1	0	14		41	0,8594		0,0,4297	no	intron,intron,intron,intron,coding-synonymous	BRF1,BTBD6	NM_001242786.1,NM_001242787.1,NM_001242788.1,NM_001519.3,NM_033271.2	,,,,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	,,,,	,,,,333/486	105716550	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	0			AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"BTB/POZ domain containing"	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.999C>T	14.37:g.105716550C>T			Q8IVQ7|Q9BR94	Silent	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.L333	ENST00000392554.3	37	c.999	CCDS10002.2	14																																																																																			BTBD6	-	NULL	ENSG00000184887		0.622	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD6	HGNC	protein_coding	OTTHUMT00000074556.4	-	0	26	0	C			105716550	1	tier1	-	no_errors	ENST00000392554	ensembl	human	known	74_37	silent	40.74	16	11	SNP	0.016	T	T	105716550	C	T	105716550	2	4	168	1	0	0	0	0	0	0	0	1	1549	871	31	1		1	BTBD6	14	105716550	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	299623	105716550	1632990	206	42394											
RASGRP1	10125	genome.wustl.edu	37	chr15	38800196	38800196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctcagtcatctcacCgagaacctacaaagcagaac	15	5	7	14	1	3	2	3	0	1	2	4	3	3	2	2	0	6	3	2	0	4	1	rs372568458		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr15:38800196C>G	ENST00000310803.5	-	9	1150	c.973G>C	c.(973-975)Ggt>Cgt	p.G325R	RASGRP1_ENST00000558164.1_Missense_Mutation_p.G325R|RASGRP1_ENST00000561180.1_Missense_Mutation_p.G376R|RASGRP1_ENST00000450598.2_Missense_Mutation_p.G325R|RASGRP1_ENST00000539159.1_Missense_Mutation_p.G277R|RASGRP1_ENST00000559830.1_Missense_Mutation_p.G325R	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	325	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GTCATCTCACCGAGAACCTAC	0.517																																																	0													38	36	37					15																	38800196		2044	4196	6240	SO:0001583	missense	0			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.973G>C	15.37:g.38800196C>G	ENSP00000310244:p.Gly325Arg		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.G325R	ENST00000310803.5	37	c.973	CCDS45222.1	15	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184315	0.57800	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.17	3.16	0.36331	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.102166	0.64402	D	0.000005	T	0.08492	0.0211	N	0.00841	-1.15	0.33632	D	0.606144	P;B;B;B	0.36354	0.549;0.019;0.203;0.018	B;B;B;B	0.37304	0.246;0.068;0.231;0.041	T	0.07790	-1.0754	10	0.23891	T	0.37	-7.2719	4.4399	0.11568	0.0:0.5867:0.0:0.4133	.	325;325;325;325	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	R	325;325;325;325;277;325;325	ENSP00000310244:G325R;ENSP00000388540:G325R;ENSP00000444762:G277R;ENSP00000413105:G325R	ENSP00000310244:G325R	G	-	1	0	RASGRP1	36587488	0.999000	0.42202	0.995000	0.50966	0.915000	0.54546	3.234000	0.51320	1.396000	0.46663	0.655000	0.94253	GGT	RASGRP1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000172575		0.517	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRP1	HGNC	protein_coding	OTTHUMT00000418223.1		0	45	0	C	NM_005739		38800196	-1			no_errors	ENST00000310803	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	G	G	38800196	C	G	38800196	3	3	168	1	0	0	0	0	1	0	0	0	13119	652	23	5	1456	5	RASGRP1	15	38800196	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09		38800196	63731196	207	42395											
ITPKA	3706	genome.wustl.edu	37	chr15	41793750	41793750	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctgggtgcagctggcaggGcacactggtgagcagtgggg	6	6	20	9	0	0	1	0	1	0	0	0	1	0	1	1	6	3	5	1	6	0	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr15:41793750G>A	ENST00000260386.5	+	2	632	c.579G>A	c.(577-579)ggG>ggA	p.G193G		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	193					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGCTGGCAGGGCACACTGGTG	0.647																																																	0													17	15	16					15																	41793750		2200	4298	6498	SO:0001819	synonymous_variant	0			X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"inositol 1,4,5-trisphosphate 3-kinase A"			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.579G>A	15.37:g.41793750G>A			Q8TAN3	Silent	SNP	pfam_IPK	p.G193	ENST00000260386.5	37	c.579	CCDS10076.1	15																																																																																			ITPKA	-	NULL	ENSG00000137825		0.647	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKA	HGNC	protein_coding	OTTHUMT00000252695.3	-	0	45	0	G	NM_002220		41793750	1	tier1	-	no_errors	ENST00000260386	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.957	A	A	41793750	G	A	41793750	2	1	168	1	0	0	0	0	0	0	0	1	7944	1190	42	3		3	ITPKA	15	41793750	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2993554	41793750	60737642	208	42396											
MAP1A	4130	genome.wustl.edu	37	chr15	43819502	43819502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	cagcaaaagccatgccaccaCggagcctgagcagactgagc	13	3	11	14	1	0	3	0	2	0	1	0	4	0	4	4	1	6	2	4	1	2	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr15:43819502C>A	ENST00000300231.5	+	4	6281	c.5831C>A	c.(5830-5832)aCg>aAg	p.T1944K	MAP1A_ENST00000399453.1_Missense_Mutation_p.T1944K|MAP1A_ENST00000382031.1_Missense_Mutation_p.T2182K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1944					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)	CATGCCACCACGGAGCCTGAG	0.532																																																	0													68	81	76					15																	43819502		2192	4278	6470	SO:0001583	missense	0			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.5831C>A	15.37:g.43819502C>A	ENSP00000300231:p.Thr1944Lys		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.T1944K	ENST00000300231.5	37	c.5831	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.659948	0.00772	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01192	5.2;5.2;5.2	4.88	1.53	0.23141	.	0.923415	0.08894	N	0.878315	T	0.00468	0.0015	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47100	-0.9143	10	0.05833	T	0.94	-0.9345	0.5863	0.00720	0.1839:0.1743:0.2837:0.3581	.	1944	P78559	MAP1A_HUMAN	K	2182;1944;1944	ENSP00000371462:T2182K;ENSP00000382380:T1944K;ENSP00000300231:T1944K	ENSP00000300231:T1944K	T	+	2	0	MAP1A	41606794	0.005000	0.15991	0.023000	0.16930	0.003000	0.03518	0.141000	0.16076	0.149000	0.19098	-1.517000	0.00937	ACG	MAP1A	-	NULL	ENSG00000166963		0.532	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	-	0	58	0	C	NM_002373		43819502	1	tier1	-	no_errors	ENST00000399453	ensembl	human	known	74_37	missense	14.63	34	6	SNP	0.024	A	A	43819502	C	A	43819502	3	1	168	1	0	0	0	0	1	0	0	0	9265	536	19	2	5833	2	MAP1A	15	43819502	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	2025752	43819502	58711890	209	42397											
GATM	2628	genome.wustl.edu	37	chr15	45654376	45654376	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatggaagcctcctccCagggaattggcattacgaat	12	8	10	11	1	0	0	0	0	0	0	2	3	2	2	3	3	3	2	3	3	5	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr15:45654376C>A	ENST00000396659.3	-	9	1542	c.1203G>T	c.(1201-1203)ctG>ctT	p.L401L		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	401					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)	AGCCTCCTCCCAGGGAATTGG	0.498																																																	0													94	80	85					15																	45654376		2198	4298	6496	SO:0001819	synonymous_variant	0			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.1203G>T	15.37:g.45654376C>A			B4DH99|B4DPI3|Q53EQ4	Silent	SNP	NULL	p.L401	ENST00000396659.3	37	c.1203	CCDS10122.1	15																																																																																			GATM	-	NULL	ENSG00000171766		0.498	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATM	HGNC	protein_coding	OTTHUMT00000254220.2		0	44	0	C	NM_001482		45654376	-1			no_errors	ENST00000396659	ensembl	human	known	74_37	silent	6.25	45	3	SNP	1.000	A	A	45654376	C	A	45654376	2	1	168	1	0	0	0	0	0	0	0	1	6288	581	21	3		3	GATM	15	45654376	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1834874	45654376	56877016	210	42398											
PAQR5	54852	genome.wustl.edu	37	chr15	69677148	69677148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagctgtgcgcacaccttCagctctatgtccaagaatgc	9	10	8	14	1	2	1	1	0	1	1	4	1	4	1	3	0	4	3	3	0	3	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr15:69677148C>T	ENST00000340965.3	+	5	980	c.312C>T	c.(310-312)ttC>ttT	p.F104F	PAQR5_ENST00000395407.2_Silent_p.F104F|PAQR5_ENST00000561153.1_Silent_p.F104F|PAQR5_ENST00000561027.1_3'UTR	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	104					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CGCACACCTTCAGCTCTATGT	0.522																																																	0													217	157	177					15																	69677148		2200	4298	6498	SO:0001819	synonymous_variant	0				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"membrane progestin receptor gamma"	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.312C>T	15.37:g.69677148C>T			Q8IXU2	Silent	SNP	pfam_HlyIII-related	p.F104	ENST00000340965.3	37	c.312	CCDS10232.1	15																																																																																			PAQR5	-	pfam_HlyIII-related	ENSG00000137819		0.522	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR5	HGNC	protein_coding	OTTHUMT00000416671.1	-	0	39	0	C	NM_017705		69677148	1	tier1	-	no_errors	ENST00000340965	ensembl	human	known	74_37	silent	15.28	61	11	SNP	1.000	T	T	69677148	C	T	69677148	2	4	168	1	0	0	0	0	0	0	0	1	11477	825	29	3		3	PAQR5	15	69677148	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	24022772	69677148	32854244	211	42399											
CSK	1445	genome.wustl.edu	37	chr15	75090969	75090969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgcaggccgcctggccatCcggtacagaatgtattgcca	8	9	11	13	2	0	1	0	0	0	1	1	1	1	1	5	3	3	3	5	3	3	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr15:75090969C>A	ENST00000220003.9	+	3	758	c.29C>A	c.(28-30)tCc>tAc	p.S10Y	CSK_ENST00000439220.2_Missense_Mutation_p.S10Y|CSK_ENST00000567571.1_Missense_Mutation_p.S10Y|CSK_ENST00000309470.9_Missense_Mutation_p.S10Y	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	10	Interaction with PTPN8. {ECO:0000250}.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			central_nervous_system(1)|lung(2)	3						GCCTGGCCATCCGGTACAGAA	0.642																																																	0													45	42	43					15																	75090969		2197	4296	6493	SO:0001583	missense	0				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.29C>A	15.37:g.75090969C>A	ENSP00000220003:p.Ser10Tyr		Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.S10Y	ENST00000220003.9	37	c.29	CCDS10269.1	15	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205850	0.79127	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.76316	-1.01;-1.01;-1.01	4.71	4.71	0.59529	Src homology-3 domain (2);	0.516023	0.21522	N	0.073191	T	0.71417	0.3337	L	0.49571	1.57	0.43338	D	0.99538	P	0.49635	0.926	B	0.36030	0.216	T	0.77819	-0.2446	10	0.59425	D	0.04	-18.0388	17.4445	0.87574	0.0:1.0:0.0:0.0	.	10	P41240	CSK_HUMAN	Y	10	ENSP00000220003:S10Y;ENSP00000414764:S10Y;ENSP00000438808:S10Y	ENSP00000220003:S10Y	S	+	2	0	CSK	72878022	0.600000	0.26899	0.999000	0.59377	0.972000	0.66771	5.515000	0.67049	2.458000	0.83093	0.561000	0.74099	TCC	CSK	-	superfamily_SH3_domain,pfscan_SH3_domain	ENSG00000103653		0.642	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSK	HGNC	protein_coding	OTTHUMT00000286398.2	-	0	95	0	C	NM_004383		75090969	1	tier1	-	no_errors	ENST00000220003	ensembl	human	known	74_37	missense	13.43	58	9	SNP	0.985	A	A	75090969	C	A	75090969	3	1	168	1	0	0	0	0	1	0	0	0	3952	855	30	3	35	3	CSK	15	75090969	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	5413821	75090969	27440423	212	42400											
ZSCAN2	54993	genome.wustl.edu	37	chr15	85164083	85164083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggcacctacctaggggaGaagccctacgaatgtcccca	11	5	11	14	1	0	1	0	0	0	1	1	3	1	1	5	3	3	1	5	3	5	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr15:85164083G>A	ENST00000448803.2	+	3	949	c.657G>A	c.(655-657)gaG>gaA	p.E219E	ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.E219E|ZSCAN2_ENST00000327179.6_Silent_p.E218E|ZSCAN2_ENST00000358472.3_Silent_p.E69E|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	219					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACCTAGGGGAGAAGCCCTACG	0.582																																																	0													90	94	93					15																	85164083		2203	4299	6502	SO:0001819	synonymous_variant	0			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.657G>A	15.37:g.85164083G>A			A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E219	ENST00000448803.2	37	c.657	CCDS10329.2	15																																																																																			ZSCAN2	-	NULL	ENSG00000176371		0.582	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	HGNC	protein_coding	OTTHUMT00000396956.1	-	0	60	0	G	NM_017894		85164083	1	tier1	-	no_errors	ENST00000448803	ensembl	human	known	74_37	silent	12.24	43	6	SNP	1.000	A	A	85164083	G	A	85164083	2	1	168	1	0	0	0	0	0	0	0	1	18279	933	33	3		3	ZSCAN2	15	85164083	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	10073114	85164083	17367309	213	42401											
FANCI	55215	genome.wustl.edu	37	chr15	89859688	89859688	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaagaagaaaaggaaaaaaTaaatgaaatgcctgagttaa	23	6	8	4	0	0	4	0	2	0	2	0	5	0	5	2	1	1	1	2	1	11	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr15:89859688T>C	ENST00000310775.7	+	38	4071	c.3985T>C	c.(3985-3987)Taa>Caa	p.*1329Q	POLG_ENST00000442287.2_3'UTR|POLG_ENST00000268124.5_3'UTR|FANCI_ENST00000300027.8_Nonstop_Mutation_p.*1269Q	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	0					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AAGGAAAAAATAAATGAAATG	0.438								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													37	37	37					15																	89859688		2200	4299	6499	SO:0001578	stop_lost	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3985T>C	15.37:g.89859688T>C	ENSP00000310842:p.*1329Glnext*6		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Nonstop_Mutation	SNP	NULL	p.*1329Q	ENST00000310775.7	37	c.3985	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	T	13.22	2.171185	0.38315	.	.	ENSG00000140525	ENST00000300027;ENST00000310775	.	.	.	3.95	-4.08	0.03963	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0205	0.42039	0.0:0.1083:0.1611:0.7305	.	.	.	.	Q	1269;1329	.	.	X	+	1	0	FANCI	87660692	0.804000	0.28969	0.960000	0.40013	0.989000	0.77384	-0.561000	0.05957	-0.451000	0.07097	-0.213000	0.12676	TAA	FANCI	-	NULL	ENSG00000140525		0.438	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	-	0	55	0	T	NM_018193		89859688	1	tier1	-	no_errors	ENST00000310775	ensembl	human	known	74_37	nonstop	17.78	37	8	SNP	0.984	C	C	89859688	T	C	89859688	4	2	168	1	0	0	0	0	0	0	0	0	5691	1419	49	4	4131	4	FANCI	15	89859688	Nonstop_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	4695605	89859688	12671704	214	42402											
ZNF200	7752	genome.wustl.edu	37	chr16	3274107	3274107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatatggattccttcatgacGactccgatgagaattctgac	11	13	8	9	2	2	3	1	3	1	1	4	7	4	4	2	1	0	0	2	1	3	5	rs149479712		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr16:3274107G>A	ENST00000431561.3	-	5	1585	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396871.4_Missense_Mutation_p.R324C|ZNF200_ENST00000414144.2_Missense_Mutation_p.R325C|ZNF200_ENST00000396870.4_Missense_Mutation_p.R324C|ZNF200_ENST00000396868.3_Missense_Mutation_p.R324C|ZNF200_ENST00000575948.1_Missense_Mutation_p.R324C	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	325					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(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CCTTCATGACGACTCCGATGA	0.398																																																	0								G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4394		0,0,2197	121	123	122		970,970,970,973,970,973	4.3	1	16	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense,missense	ZNF200	NM_001145446.1,NM_001145447.1,NM_001145448.1,NM_003454.3,NM_198087.2,NM_198088.2	180,180,180,180,180,180	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	324/395,324/395,324/395,325/396,324/395,325/396	3274107	2,12992	2197	4300	6497	SO:0001583	missense	0			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"Zinc fingers, C2H2-type"	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.973C>T	16.37:g.3274107G>A	ENSP00000395723:p.Arg325Cys		D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R325C	ENST00000431561.3	37	c.973	CCDS10497.1	16	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080811	0.55753	0.0	2.33E-4	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T	0.02472	4.28;4.28;4.28	5.31	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000681	T	0.12263	0.0298	M	0.73372	2.23	0.32961	D	0.52102	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.959;0.959;0.989	T	0.04621	-1.0938	10	0.54805	T	0.06	-15.4539	10.8842	0.46957	0.0:0.0:0.8125:0.1875	.	324;325;324	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	C	325;324;324;324;325	ENSP00000380077:R324C;ENSP00000380080:R324C;ENSP00000395723:R325C	ENSP00000380077:R324C	R	-	1	0	ZNF200	3214108	0.000000	0.05858	1.000000	0.80357	0.988000	0.76386	-1.088000	0.03379	1.408000	0.46895	0.557000	0.71058	CGT	ZNF200	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000010539		0.398	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF200	HGNC	protein_coding	OTTHUMT00000437545.1		0	30	0	G			3274107	-1			no_errors	ENST00000414144	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.992	A	A	3274107	G	A	3274107	3	1	168	1	0	0	0	0	1	0	0	0	17810	1058	37	1	218	1	ZNF200	16	3274107	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09		3274107	87080646	215	42403											
DNAJA3	9093	genome.wustl.edu	37	chr16	4500469	4500469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgagacagatgtggaggggaCggtgaacggcgtcaccctca	10	5	16	10	4	2	3	2	1	0	2	2	6	2	5	1	5	1	0	1	5	1	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr16:4500469C>T	ENST00000262375.6	+	10	1387	c.1310C>T	c.(1309-1311)aCg>aTg	p.T437M	DNAJA3_ENST00000355296.4_Missense_Mutation_p.T437M|DNAJA3_ENST00000431375.2_Missense_Mutation_p.T284M	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	437					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						GTGGAGGGGACGGTGAACGGC	0.617																																																	0													46	37	40					16																	4500469		2197	4298	6495	SO:0001583	missense	0			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.1310C>T	16.37:g.4500469C>T	ENSP00000262375:p.Thr437Met		B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.T437M	ENST00000262375.6	37	c.1310	CCDS10515.1	16	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130611	0.77549	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.65364	-0.15;-0.13;0.86	5.63	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.99;0.995	T	0.78430	-0.2207	10	0.87932	D	0	-13.0245	15.0791	0.72099	0.1419:0.8581:0.0:0.0	.	284;437;437	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	M	437;437;284	ENSP00000262375:T437M;ENSP00000347445:T437M;ENSP00000393970:T284M	ENSP00000262375:T437M	T	+	2	0	DNAJA3	4440470	1.000000	0.71417	0.975000	0.42487	0.582000	0.36321	7.629000	0.83207	2.659000	0.90383	0.561000	0.74099	ACG	DNAJA3	-	NULL	ENSG00000103423		0.617	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAJA3	HGNC	protein_coding	OTTHUMT00000251633.1		0	71	0	C			4500469	1			no_errors	ENST00000262375	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.999	T	T	4500469	C	T	4500469	3	4	168	1	0	0	0	0	1	0	0	0	4627	536	19	1	1348	1	DNAJA3	16	4500469	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1226362	4500469	85854284	216	42404											
UBN1	29855	genome.wustl.edu	37	chr16	4921228	4921228	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaacaacaaagcccaggcTtgggaggactgtgtgaaggg	13	5	16	7	0	0	1	0	1	0	0	0	4	0	4	1	5	3	1	1	5	4	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr16:4921228T>A	ENST00000396658.4	+	11	2335	c.1632T>A	c.(1630-1632)gcT>gcA	p.A544A	UBN1_ENST00000545171.1_Silent_p.A544A|UBN1_ENST00000590769.1_Silent_p.A544A|UBN1_ENST00000262376.6_Silent_p.A544A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	544					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						AAGCCCAGGCTTGGGAGGACT	0.577																																																	0													144	132	136					16																	4921228		2197	4300	6497	SO:0001819	synonymous_variant	0			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.1632T>A	16.37:g.4921228T>A			B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	NULL	p.A544	ENST00000396658.4	37	c.1632	CCDS10525.1	16																																																																																			UBN1	-	NULL	ENSG00000118900		0.577	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	-	0	71	0	T	NM_016936		4921228	1	tier1	-	no_errors	ENST00000262376	ensembl	human	known	74_37	silent	10.59	76	9	SNP	0.009	A	A	4921228	T	A	4921228	2	1	168	1	0	0	0	0	0	0	0	1	16941	1596	56	5		5	UBN1	16	4921228	Silent	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	420759	4921228	85433525	217	42405											
UBN1	29855	genome.wustl.edu	37	chr16	4924401	4924401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggactcattggatgaaGacttgatccgcaatccagcc	11	9	11	10	1	1	3	1	2	0	1	3	6	3	6	3	3	1	1	3	3	2	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr16:4924401G>C	ENST00000396658.4	+	14	2693	c.1990G>C	c.(1990-1992)Gac>Cac	p.D664H	UBN1_ENST00000545171.1_Missense_Mutation_p.D664H|UBN1_ENST00000590769.1_Missense_Mutation_p.D664H|UBN1_ENST00000262376.6_Missense_Mutation_p.D664H	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	664					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						ATTGGATGAAGACTTGATCCG	0.577																																																	0													106	104	104					16																	4924401		2197	4300	6497	SO:0001583	missense	0			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.1990G>C	16.37:g.4924401G>C	ENSP00000379894:p.Asp664His		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	NULL	p.D664H	ENST00000396658.4	37	c.1990	CCDS10525.1	16	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318830	0.60524	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.67865	0.34;-0.29;0.34	4.64	4.64	0.57946	.	0.074725	0.53938	D	0.000041	D	0.82393	0.5027	M	0.77103	2.36	0.36884	D	0.889569	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.87058	0.2151	10	0.87932	D	0	-14.7334	18.0643	0.89386	0.0:0.0:1.0:0.0	.	664;664	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	H	664	ENSP00000262376:D664H;ENSP00000442379:D664H;ENSP00000379894:D664H	ENSP00000262376:D664H	D	+	1	0	UBN1	4864402	1.000000	0.71417	0.914000	0.36105	0.658000	0.38924	6.888000	0.75622	2.575000	0.86900	0.561000	0.74099	GAC	UBN1	-	NULL	ENSG00000118900		0.577	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	-	0	81	0	G	NM_016936		4924401	1	tier1	-	no_errors	ENST00000262376	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.994	C	C	4924401	G	C	4924401	3	2	168	1	0	0	0	0	1	0	0	0	16941	942	33	5	2044	5	UBN1	16	4924401	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	3173	4924401	85430352	218	42406											
VPS4A	27183	genome.wustl.edu	37	chr16	69352763	69352763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcccaacatacggtggaaCgacgtggccgggctggaggg	10	4	17	10	4	0	0	0	0	0	0	0	3	0	2	2	6	4	1	2	6	4	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr16:69352763C>T	ENST00000254950.11	+	5	537	c.381C>T	c.(379-381)aaC>aaT	p.N127N	COG8_ENST00000564419.1_5'Flank|RP11-343C2.11_ENST00000570054.2_Silent_p.N151N	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				TACGGTGGAACGACGTGGCCG	0.627																																																	0													115	128	124					16																	69352763		1912	4129	6041	SO:0001819	synonymous_variant	0			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.381C>T	16.37:g.69352763C>T				Silent	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.N127	ENST00000254950.11	37	c.381	CCDS45517.1	16																																																																																			VPS4A	-	superfamily_P-loop_NTPase	ENSG00000132612		0.627	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3	-	0	62	0	C	NM_013245		69352763	1	tier1	-	no_errors	ENST00000254950	ensembl	human	known	74_37	silent	20.34	47	12	SNP	1.000	T	T	69352763	C	T	69352763	2	4	168	1	0	0	0	0	0	0	0	1	17261	535	19	1		1	VPS4A	16	69352763	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	64428362	69352763	21001990	219	42407											
SF3B3	23450	genome.wustl.edu	37	chr16	70599428	70599428	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aactggagtttttgcacaagGtaggaatctgccagtggttc	10	12	12	7	0	1	0	0	0	1	0	2	2	1	2	1	4	3	4	1	4	4	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr16:70599428G>T	ENST00000302516.5	+	20	3037		c.e20+1			NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa						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)				TTTGCACAAGGTAGGAATCTG	0.458																																																	0													61	67	65					16																	70599428		2198	4300	6498	SO:0001630	splice_region_variant	0			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.2826+1G>T	16.37:g.70599428G>T			Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Splice_Site	SNP	-	e19+1	ENST00000302516.5	37	c.2826+1	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781572	0.90282	.	.	ENSG00000189091	ENST00000302516	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SF3B3	69156929	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.835000	0.99442	2.832000	0.97577	0.655000	0.94253	.	SF3B3	-	-	ENSG00000189091		0.458	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	-	0	76	0	G	NM_012426	Intron	70599428	1	tier1	-	no_errors	ENST00000302516	ensembl	human	known	74_37	splice_site	5.80	65	4	SNP	1.000	T	T	70599428	G	T	70599428	5	4	168	1	0	0	0	0	0	0	1	0	14197	1275	44	3	2901	3	SF3B3	16	70599428	Splice_Site	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1246665	70599428	19755325	220	42408											
BANP	54971	genome.wustl.edu	37	chr16	88052199	88052199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	cttccaccgcgaggtgcaggCtgtgtccaacctctcggggc	5	8	13	15	3	1	0	0	0	1	0	4	1	3	0	4	4	2	2	4	4	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr16:88052199C>T	ENST00000393207.1	+	7	1018	c.797C>T	c.(796-798)gCt>gTt	p.A266V	BANP_ENST00000355022.4_Missense_Mutation_p.A235V|BANP_ENST00000393208.2_Missense_Mutation_p.A235V|BANP_ENST00000355163.5_Missense_Mutation_p.A241V|BANP_ENST00000479780.2_Missense_Mutation_p.A235V|BANP_ENST00000286122.7_Missense_Mutation_p.A266V|BANP_ENST00000538234.1_Missense_Mutation_p.A274V	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	266	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.|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)		GAGGTGCAGGCTGTGTCCAAC	0.647																																																	0													41	27	32					16																	88052199		2196	4299	6495	SO:0001583	missense	0			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.797C>T	16.37:g.88052199C>T	ENSP00000376902:p.Ala266Val		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	pfam_BEN_domain	p.A266V	ENST00000393207.1	37	c.797	CCDS54054.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.570405	0.96540	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.11	5.11	0.69529	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;0.996;0.999	D;D;D;D;D;D	0.87578	0.996;0.998;0.983;0.996;0.971;0.997	T	0.24083	-1.0170	9	.	.	.	.	17.5078	0.87750	0.0:1.0:0.0:0.0	.	274;241;235;266;235;235	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	V	266;241;231;235;235;235;235;274;266	ENSP00000286122:A266V;ENSP00000347290:A241V;ENSP00000432508:A235V;ENSP00000376903:A235V;ENSP00000347125:A235V;ENSP00000444352:A274V;ENSP00000376902:A266V	.	A	+	2	0	BANP	86609700	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.276000	0.78559	2.357000	0.79964	0.491000	0.48974	GCT	BANP	-	pfam_BEN_domain	ENSG00000172530		0.647	BANP-002	KNOWN	basic|CCDS	protein_coding	BANP	HGNC	protein_coding	OTTHUMT00000269166.1	-	0	81	0	C	NM_017869		88052199	1	tier1	-	no_errors	ENST00000286122	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	88052199	C	T	88052199	3	4	168	1	0	0	0	0	1	0	0	0	1311	797	28	3	861	3	BANP	16	88052199	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	17452771	88052199	2302554	221	42409											
FANCA	2175	genome.wustl.edu	37	chr16	89858425	89858425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacctcctgcgtttccaGaacttcttgcaaatggccaa	10	11	8	12	1	1	2	0	1	1	1	3	2	3	2	4	1	4	2	4	1	4	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr16:89858425G>T	ENST00000389301.3	-	13	1165	c.1135C>A	c.(1135-1137)Ctg>Atg	p.L379M	FANCA_ENST00000568369.1_Missense_Mutation_p.L379M	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	379					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)		TGCGTTTCCAGAACTTCTTGC	0.498			"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													122	111	115					16																	89858425		2198	4300	6498	SO:0001583	missense	0	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.1135C>A	16.37:g.89858425G>T	ENSP00000373952:p.Leu379Met		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.L379M	ENST00000389301.3	37	c.1135	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050738	0.36181	.	.	ENSG00000187741	ENST00000389301	D	0.98777	-5.13	5.49	4.49	0.54785	.	0.323406	0.22308	N	0.061778	D	0.98710	0.9567	M	0.77103	2.36	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.64595	0.927;0.878	D	0.98917	1.0782	10	0.66056	D	0.02	-7.1779	9.0322	0.36264	0.1755:0.0:0.8245:0.0	.	379;379	B4DRI7;O15360	.;FANCA_HUMAN	M	379	ENSP00000373952:L379M	ENSP00000373952:L379M	L	-	1	2	FANCA	88385926	0.978000	0.34361	0.738000	0.30950	0.009000	0.06853	0.974000	0.29436	1.243000	0.43853	-0.365000	0.07479	CTG	FANCA	-	NULL	ENSG00000187741		0.498	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	-	0	47	0	G			89858425	-1	tier1	-	no_errors	ENST00000389301	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	89858425	G	T	89858425	3	4	168	1	0	0	0	0	1	0	0	0	5684	933	33	3	3356	3	FANCA	16	89858425	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1806226	89858425	496328	222	42410											
PRPF8	10594	genome.wustl.edu	37	chr17	1554764	1554764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggttgtcagccatgatCttggcatgggtggtgacatc	7	12	15	7	0	2	2	1	2	1	0	3	3	2	2	1	4	1	2	1	4	0	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:1554764C>A	ENST00000572621.1	-	40	6859	c.6594G>T	c.(6592-6594)aaG>aaT	p.K2198N	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Missense_Mutation_p.K2198N|RILP_ENST00000301336.6_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2198	MPN.				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)		CAGCCATGATCTTGGCATGGG	0.542																																																	0													125	111	115					17																	1554764		2203	4300	6503	SO:0001583	missense	0			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.6594G>T	17.37:g.1554764C>A	ENSP00000460348:p.Lys2198Asn		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.K2198N	ENST00000572621.1	37	c.6594	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217171	0.39201	.	.	ENSG00000174231	ENST00000304992	T	0.55413	0.52	5.36	1.15	0.20763	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	M	0.84846	2.72	0.80722	D	1	B	0.32188	0.359	B	0.34038	0.174	T	0.52895	-0.8514	10	0.54805	T	0.06	.	9.183	0.37154	0.0:0.5528:0.0:0.4472	.	2198	Q6P2Q9	PRP8_HUMAN	N	2198	ENSP00000304350:K2198N	ENSP00000304350:K2198N	K	-	3	2	PRPF8	1501514	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	1.261000	0.32980	0.005000	0.14708	-0.140000	0.14226	AAG	PRPF8	-	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	ENSG00000174231		0.542	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	-	0	60	0	C			1554764	-1	tier1	-	no_errors	ENST00000304992	ensembl	human	known	74_37	missense	18.97	47	11	SNP	1.000	A	A	1554764	C	A	1554764	3	1	168	1	0	0	0	0	1	0	0	0	12617	912	32	3	425	3	PRPF8	17	1554764	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09		1554764	79640446	223	42411											
TP53	7157	genome.wustl.edu	37	chr17	7574000	7574000	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaggcctcattcagctCtcggaacatctcgaagcgct	9	10	8	14	3	4	0	2	0	2	0	7	2	5	1	2	2	3	2	2	2	3	2	rs375573770		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:7574000C>A	ENST00000269305.4	-	10	1216	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E343*|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	343	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> G (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.E343*(8)|p.0?(8)|p.R342_N345delRELN(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)	TCATTCAGCTCTCGGAACATC	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	19	Substitution - Nonsense(8)|Whole gene deletion(8)|Unknown(1)|Deletion - In frame(1)|Deletion - Frameshift(1)	bone(4)|lung(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|biliary_tract(2)|oesophagus(2)|stomach(1)|breast(1)											63	49	54					17																	7574000		2203	4300	6503	SO:0001587	stop_gained	0	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.1027G>T	17.37:g.7574000C>A	ENSP00000269305:p.Glu343*		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E343*	ENST00000269305.4	37	c.1027	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.416742	0.96092	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	0.0488	0.14286	.	0.424710	0.26746	N	0.022702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3598	8.103	0.30868	0.0:0.4892:0.0:0.5108	.	.	.	.	X	343;343;332	.	ENSP00000269305:E343X	E	-	1	0	TP53	7514725	0.924000	0.31332	0.029000	0.17559	0.870000	0.49936	2.211000	0.42825	0.026000	0.15269	-0.291000	0.09656	GAG	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	29	0	C	NM_000546		7574000	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	47.37	20	18	SNP	0.042	A	A	7574000	C	A	7574000	4	1	168	1	0	0	0	0	0	1	0	0	16429	922	32	3	162	3	TP53	17	7574000	Nonsense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	6019236	7574000	73621210	224	42412											
MYH10	4628	genome.wustl.edu	37	chr17	8445446	8445446	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctctctattaggtcgatGcatggctgcagatccagccc	7	11	11	12	1	2	1	0	0	2	1	5	2	3	1	2	3	3	3	2	3	2	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:8445446G>T	ENST00000269243.4	-	13	1692	c.1554C>A	c.(1552-1554)tgC>tgA	p.C518*	MYH10_ENST00000396239.1_Nonsense_Mutation_p.C518*|MYH10_ENST00000379980.4_Nonsense_Mutation_p.C534*|MYH10_ENST00000360416.3_Nonsense_Mutation_p.C528*	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	518	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						TTAGGTCGATGCATGGCTGCA	0.473																																																	0													145	126	133					17																	8445446		2203	4300	6503	SO:0001587	stop_gained	0			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.1554C>A	17.37:g.8445446G>T	ENSP00000269243:p.Cys518*		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.C518*	ENST00000269243.4	37	c.1554	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442513	0.83993	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1274	0.59363	0.077:0.0:0.923:0.0	.	.	.	.	X	518;528;518;534	.	ENSP00000269243:C518X	C	-	3	2	MYH10	8386171	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	5.321000	0.65846	2.735000	0.93741	0.563000	0.77884	TGC	MYH10	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000133026		0.473	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	-	0	73	0	G			8445446	-1	tier1	-	no_errors	ENST00000396239	ensembl	human	known	74_37	nonsense	7.02	52	4	SNP	1.000	T	T	8445446	G	T	8445446	4	4	168	1	0	0	0	0	0	1	0	0	10068	1311	46	3	4492	3	MYH10	17	8445446	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	871446	8445446	72749764	225	42413											
MYH13	8735	genome.wustl.edu	37	chr17	10209808	10209808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggatctgcttcttccCgcccttcagcgccagttgtt	3	16	8	14	2	4	0	1	0	3	0	5	1	5	1	3	1	2	3	3	1	0	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:10209808C>T	ENST00000418404.3	-	36	5597	c.5434G>A	c.(5434-5436)Ggg>Agg	p.G1812R	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.G1812R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1812					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						TGCTTCTTCCCGCCCTTCAGC	0.552																																																	0													164	173	170					17																	10209808		2203	4300	6503	SO:0001583	missense	0			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.5434G>A	17.37:g.10209808C>T	ENSP00000404570:p.Gly1812Arg		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G1812R	ENST00000418404.3	37	c.5434	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378631	0.82682	.	.	ENSG00000006788	ENST00000252172	T	0.81247	-1.47	4.12	4.12	0.48240	Myosin tail (1);	.	.	.	.	D	0.93367	0.7885	H	0.98199	4.17	0.49687	D	0.999815	D	0.69078	0.997	D	0.71414	0.973	D	0.96057	0.9036	9	0.87932	D	0	.	16.9211	0.86164	0.0:1.0:0.0:0.0	.	1812	Q9UKX3	MYH13_HUMAN	R	1812	ENSP00000252172:G1812R	ENSP00000252172:G1812R	G	-	1	0	MYH13	10150533	1.000000	0.71417	0.991000	0.47740	0.787000	0.44495	5.897000	0.69831	2.290000	0.77057	0.491000	0.48974	GGG	MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.552	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0	88	0	C	NM_003802		10209808	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	10209808	C	T	10209808	3	4	168	1	0	0	0	0	1	0	0	0	10070	652	23	1	402	1	MYH13	17	10209808	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1764362	10209808	70985402	226	42414											
NOS2	4843	genome.wustl.edu	37	chr17	26087701	26087701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagaaactgcggaagggcgcGatgcctgtgccaggcccgat	9	5	15	12	4	0	1	0	0	0	1	0	4	0	2	3	3	4	0	3	3	2	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:26087701G>C	ENST00000313735.6	-	24	3191	c.2958C>G	c.(2956-2958)atC>atG	p.I986M		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	986					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)	GGAAGGGCGCGATGCCTGTGC	0.662											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													25	22	23					17																	26087701		2157	4196	6353	SO:0001583	missense	0			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.2958C>G	17.37:g.26087701G>C	ENSP00000327251:p.Ile986Met	784	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.I986M	ENST00000313735.6	37	c.2958	CCDS11223.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.03|13.03	2.116855|2.116855	0.37339|0.37339	.|.	.|.	ENSG00000007171|ENSG00000007171	ENST00000313735;ENST00000379105|ENST00000302153	T|.	0.78246|.	-1.16|.	4.63|4.63	-4.65|-4.65	0.03339|0.03339	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71745|0.71745	0.3376|0.3376	M|M	0.87682|0.87682	2.9|2.9	0.43824|0.43824	D|D	0.996396|0.996396	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.75747|0.75747	-0.3209|-0.3209	10|6	0.87932|0.87932	D|D	0|0	.|.	7.9008|7.9008	0.29734|0.29734	0.6809:0.0:0.1936:0.1255|0.6809:0.0:0.1936:0.1255	.|.	986|.	P35228|.	NOS2_HUMAN|.	M|W	986;947|706	ENSP00000327251:I986M|.	ENSP00000327251:I986M|ENSP00000305638:S706W	I|S	-|-	3|2	3|0	NOS2|NOS2	23111828|23111828	0.001000|0.001000	0.12720|0.12720	0.974000|0.974000	0.42286|0.42286	0.168000|0.168000	0.22595|0.22595	-1.351000|-1.351000	0.02622|0.02622	-0.517000|-0.517000	0.06461|0.06461	-0.463000|-0.463000	0.05309|0.05309	ATC|TCG	NOS2	-	pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_euk,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	ENSG00000007171		0.662	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	-	0	212	0	G	NM_000625		26087701	-1	tier1	-	no_errors	ENST00000313735	ensembl	human	known	74_37	missense	14.89	160	28	SNP	0.900	C	C	26087701	G	C	26087701	3	2	168	1	0	0	0	0	1	0	0	0	10582	1048	37	5	519	5	NOS2	17	26087701	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	15877893	26087701	55107509	227	42415											
NLK	51701	genome.wustl.edu	37	chr17	26488245	26488245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatcgtctctcctcaacCactcagctcagatcatgtca	11	12	4	14	1	6	1	5	0	1	1	9	1	7	1	2	0	2	1	2	0	3	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:26488245C>A	ENST00000407008.3	+	4	1422	c.704C>A	c.(703-705)cCa>cAa	p.P235Q		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCTCCTCAACCACTCAGCTCA	0.363																																																	0													119	113	115					17																	26488245		2203	4300	6503	SO:0001583	missense	0			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"nemo like kinase"			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.704C>A	17.37:g.26488245C>A	ENSP00000384625:p.Pro235Gln		B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P235Q	ENST00000407008.3	37	c.704	CCDS11224.2	17	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035243	0.75617	.	.	ENSG00000087095	ENST00000407008	T	0.65549	-0.16	6.17	6.17	0.99709	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	0.55194	0.1905	N	0.17248	0.465	0.80722	D	1	B	0.30526	0.283	B	0.37267	0.245	T	0.53697	-0.8402	10	0.49607	T	0.09	-0.9486	19.8676	0.96824	0.0:1.0:0.0:0.0	.	235	Q9UBE8	NLK_HUMAN	Q	235	ENSP00000384625:P235Q	ENSP00000384625:P235Q	P	+	2	0	NLK	23512372	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CCA	NLK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000087095		0.363	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLK	HGNC	protein_coding	OTTHUMT00000255607.3		0	74	0	C	NM_016231		26488245	1			no_errors	ENST00000407008	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A	A	26488245	C	A	26488245	3	1	168	1	0	0	0	0	1	0	0	0	10505	594	21	3	718	3	NLK	17	26488245	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	400544	26488245	54706965	228	42416											
TLCD1	116238	genome.wustl.edu	37	chr17	27051820	27051820	+	Missense_Mutation	SNP	A	A	T	1	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	tcatcatcatgcgaatggtgAggaagatgttgctgacttcc	10	12	11	8	1	3	3	3	2	0	1	4	5	4	4	1	2	2	2	1	2	2	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:27051820A>T	ENST00000292090.3	-	4	562	c.452T>A	c.(451-453)cTc>cAc	p.L151H	SNORD4A_ENST00000459174.1_RNA|SNORD4B_ENST00000459083.1_RNA|AC010761.14_ENST00000587898.1_RNA|AC010761.8_ENST00000582718.1_RNA|SNORD42A_ENST00000459584.1_RNA|TLCD1_ENST00000394933.3_Missense_Mutation_p.L104H	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	151	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					GCGAATGGTGAGGAAGATGTT	0.498																																																	0													117	111	113					17																	27051820		2203	4300	6503	SO:0001583	missense	0			BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.452T>A	17.37:g.27051820A>T	ENSP00000292090:p.Leu151His		A8MYP9	Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.L151H	ENST00000292090.3	37	c.452	CCDS11242.1	17	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683957	0.88639	.	.	ENSG00000160606	ENST00000292090;ENST00000394933	D;D	0.89875	-2.58;-2.58	5.91	5.91	0.95273	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94650	0.7838	10	0.87932	D	0	-0.4012	14.0835	0.64939	1.0:0.0:0.0:0.0	.	104;151	A8MYP9;Q96CP7	.;TLCD1_HUMAN	H	151;104	ENSP00000292090:L151H;ENSP00000378391:L104H	ENSP00000292090:L151H	L	-	2	0	TLCD1	24075947	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.042000	0.89430	2.263000	0.75096	0.379000	0.24179	CTC	TLCD1	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000160606		0.498	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLCD1	HGNC	protein_coding	OTTHUMT00000255973.1	-	0	59	0	A	NM_138463		27051820	-1	tier1	-	no_errors	ENST00000292090	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	T	T	27051820	A	T	27051820	3	4	168	1	0	0	0	0	1	0	0	0	15984	304	11	5	295	5	TLCD1	17	27051820	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	563575	27051820	54143390	229	42417											
CCL5	6352	genome.wustl.edu	37	chr17	34199418	34199418	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgatgtactcccgaaccCatttcttctctgggttggca	7	14	9	11	1	2	1	0	1	2	0	4	2	3	1	2	2	2	4	2	2	2	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:34199418C>T	ENST00000293272.3	-	3	441	c.239G>A	c.(238-240)tGg>tAg	p.W80*	CCL5_ENST00000366113.3_Nonsense_Mutation_p.W80*|AC015849.2_ENST00000413928.1_RNA	NM_002985.2	NP_002976.2	P13501	CCL5_HUMAN	chemokine (C-C motif) ligand 5	80					activation of phospholipase D activity (GO:0031584)|calcium ion transport (GO:0006816)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular protein complex assembly (GO:0043623)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|eosinophil chemotaxis (GO:0048245)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of T cell apoptotic process (GO:0070233)|negative regulation of viral genome replication (GO:0045071)|neutrophil activation (GO:0042119)|positive chemotaxis (GO:0050918)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of innate immune response (GO:0045089)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell apoptotic process (GO:0070234)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of translational initiation (GO:0045948)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|positive regulation of viral genome replication (GO:0045070)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein tetramerization (GO:0051262)|regulation of chronic inflammatory response (GO:0002676)|regulation of insulin secretion (GO:0050796)|regulation of neuron death (GO:1901214)|regulation of T cell activation (GO:0050863)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|CCR4 chemokine receptor binding (GO:0031729)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|chemokine receptor antagonist activity (GO:0046817)|chemokine receptor binding (GO:0042379)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase activator activity (GO:0016004)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|receptor signaling protein tyrosine kinase activator activity (GO:0030298)			breast(1)|kidney(1)|lung(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		CTCCCGAACCCATTTCTTCTC	0.498																																																	0													187	149	162					17																	34199418		2203	4300	6503	SO:0001587	stop_gained	0			AF043341	CCDS11300.1	17q11.2-q12	2014-04-17	2002-08-22	2002-08-23	ENSG00000161570	ENSG00000271503		"Chemokine ligands", "Endogenous ligands"	10632	protein-coding gene	gene with protein product	"T-cell specific protein p288", "T-cell specific RANTES protein", "SIS-delta", "regulated upon activation, normally T-expressed, and presumably secreted", "beta-chemokine RANTES", "small inducible cytokine subfamily A (Cys-Cys), member 5"	187011	"small inducible cytokine A5 (RANTES)"	D17S136E, SCYA5		1691736	Standard	NM_002985		Approved	RANTES, SISd, TCP228, MGC17164	uc002hkf.3	P13501	OTTHUMG00000188396	ENST00000293272.3:c.239G>A	17.37:g.34199418C>T	ENSP00000293272:p.Trp80*		O43646|Q0QVW8|Q4ZGJ1|Q9NYA2|Q9UBG2|Q9UC99	Nonsense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.W80*	ENST00000293272.3	37	c.239	CCDS11300.1	17	.	.	.	.	.	.	.	.	.	.	c	23.8	4.455683	0.84209	.	.	ENSG00000161570	ENST00000293272;ENST00000366113	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5424	0.68005	0.0:1.0:0.0:0.0	.	.	.	.	X	80	.	ENSP00000293272:W80X	W	-	2	0	CCL5	31223531	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.874000	0.56101	2.812000	0.96745	0.556000	0.70494	TGG	CCL5	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000161570		0.498	CCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL5	HGNC	protein_coding	OTTHUMT00000256486.3	-	0	123	0	C	NM_002985		34199418	-1	tier1	-	no_errors	ENST00000293272	ensembl	human	known	74_37	nonsense	12.14	123	17	SNP	1.000	T	T	34199418	C	T	34199418	4	4	168	1	0	0	0	0	0	1	0	0	2912	595	21	3	40	3	CCL5	17	34199418	Nonsense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	7147598	34199418	46995792	230	42418											
MED24	9862	genome.wustl.edu	37	chr17	38189392	38189392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggtgccctcgagcaggatcaCggcgtggacagtggggaagc	8	5	18	10	3	1	0	1	0	0	0	2	4	1	3	1	6	3	1	1	6	1	0	rs201198702		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:38189392C>T	ENST00000394128.2	-	8	820	c.739G>A	c.(739-741)Gtg>Atg	p.V247M	MED24_ENST00000394127.2_Missense_Mutation_p.V234M|MED24_ENST00000394126.1_Missense_Mutation_p.V272M|MED24_ENST00000479829.1_5'Flank|MED24_ENST00000356271.3_Missense_Mutation_p.V234M|MED24_ENST00000501516.3_Missense_Mutation_p.V266M	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	247					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)					AGCAGGATCACGGCGTGGACA	0.627																																																	0								C	MET/VAL,MET/VAL	0,4406		0,0,2203	63	54	57		739,700	0.7	0.1	17		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MED24	NM_014815.3,NM_001079518.1	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	247/990,234/977	38189392	1,13005	2203	4300	6503	SO:0001583	missense	0			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.739G>A	17.37:g.38189392C>T	ENSP00000377686:p.Val247Met		A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	pfam_Mediator_Med24_N	p.V247M	ENST00000394128.2	37	c.739	CCDS11359.1	17	.	.	.	.	.	.	.	.	.	.	C	3.639	-0.073927	0.07184	0.0	1.16E-4	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000543759;ENST00000535508;ENST00000431269;ENST00000428757	T;T;T	0.46819	0.86;0.86;0.86	5.48	0.698	0.18087	Mediator complex, subunit Med24, N-terminal (1);	0.265170	0.37761	N	0.001960	T	0.47432	0.1445	L	0.43152	1.355	0.28570	N	0.91067	P;P;P;P;P;P;B;B;P	0.50617	0.937;0.566;0.825;0.784;0.791;0.511;0.289;0.337;0.511	P;B;P;P;B;B;B;B;B	0.50537	0.643;0.333;0.456;0.518;0.224;0.224;0.164;0.128;0.224	T	0.51172	-0.8739	10	0.56958	D	0.05	-4.0111	13.3003	0.60321	0.1083:0.4133:0.4784:0.0	.	221;234;197;176;197;157;234;247;189	B9TX63;B9TX65;B4DV99;B4DDR8;F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;.;.;.;.;MED24_HUMAN;.	M	247;247;247;197;234;189;221;221;157;266	ENSP00000377686:V247M;ENSP00000443344:V197M;ENSP00000377685:V234M	ENSP00000348610:V247M	V	-	1	0	MED24	35442918	0.960000	0.32886	0.089000	0.20774	0.039000	0.13416	2.154000	0.42291	-0.081000	0.12662	-0.867000	0.03001	GTG	MED24	-	pfam_Mediator_Med24_N	ENSG00000008838		0.627	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2		0	43	0	C	NM_014815		38189392	-1			no_errors	ENST00000394128	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.418	T	T	38189392	C	T	38189392	3	4	168	1	0	0	0	0	1	0	0	0	9480	536	19	1	2306	1	MED24	17	38189392	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	3989974	38189392	43005818	231	42419											
HDAC5	10014	genome.wustl.edu	37	chr17	42160016	42160016	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagttttgcggtgatggcTacagagttgaagaagcagaa	13	9	15	4	1	0	5	0	2	0	3	0	6	0	6	0	3	3	4	0	3	4	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:42160016T>A	ENST00000393622.2	-	20	2875	c.2544A>T	c.(2542-2544)gtA>gtT	p.V848V	HDAC5_ENST00000225983.6_Silent_p.V849V|HDAC5_ENST00000336057.5_Silent_p.V763V|HDAC5_ENST00000586802.1_Silent_p.V848V	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	848	Histone deacetylase.				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)		CGGTGATGGCTACAGAGTTGA	0.592																																																	0													100	89	93					17																	42160016		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2544A>T	17.37:g.42160016T>A			C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.V849	ENST00000393622.2	37	c.2547	CCDS45696.1	17																																																																																			HDAC5	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	ENSG00000108840		0.592	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1	-	0	55	0	T	NM_001015053		42160016	-1	tier1	-	no_errors	ENST00000225983	ensembl	human	known	74_37	silent	46.27	36	31	SNP	0.997	A	A	42160016	T	A	42160016	2	1	168	1	0	0	0	0	0	0	0	1	7037	1509	53	5		5	HDAC5	17	42160016	Silent	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	3970624	42160016	39035194	232	42420											
C17orf46	124783	genome.wustl.edu	37	chr17	43332672	43332672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctctggcagggtctctgCgtgattttctggctctcgct	2	17	11	11	2	4	1	0	1	4	0	7	1	4	1	0	3	1	3	0	3	0	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:43332672C>T	ENST00000331780.4	-	4	972	c.877G>A	c.(877-879)Gca>Aca	p.A293T	MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.A272T|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	293					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											AGGGTCTCTGCGTGATTTTCT	0.532																																																	0													143	130	134					17																	43332672		2203	4300	6503	SO:0001583	missense	0			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.877G>A	17.37:g.43332672C>T	ENSP00000331532:p.Ala293Thr		Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	NULL	p.A293T	ENST00000331780.4	37	c.877	CCDS32669.1	17	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.376218	0.01214	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.40225	1.04;1.04	3.8	-7.59	0.01308	.	2.838640	0.01015	N	0.003893	T	0.22399	0.0540	L	0.29908	0.895	0.09310	N	1	B	0.25521	0.128	B	0.10450	0.005	T	0.24261	-1.0165	10	0.09338	T	0.73	-14.7677	2.068	0.03607	0.2109:0.1117:0.3498:0.3277	.	293	Q96LK8	CQ046_HUMAN	T	293;272	ENSP00000331532:A293T;ENSP00000442724:A272T	ENSP00000331532:A293T	A	-	1	0	C17orf46	40688455	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.577000	0.00112	-5.987000	0.00007	-1.059000	0.02297	GCA	SPATA32	-	NULL	ENSG00000184361		0.532	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA32	HGNC	protein_coding	OTTHUMT00000450946.1		0	42	0	C	NM_152343		43332672	-1			no_errors	ENST00000331780	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.000	T	T	43332672	C	T	43332672	3	4	168	1	0	0	0	0	1	0	0	0	1863	768	27	1	285	1	C17orf46	17	43332672	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1172656	43332672	37862538	233	42421											
ABCA6	23460	genome.wustl.edu	37	chr17	67092434	67092434	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctccttttgcgaaaaaTaaatgatatcatatatatga	15	17	4	5	1	2	2	1	2	1	0	3	3	2	2	1	0	1	0	1	0	8	9			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:67092434T>C	ENST00000284425.2	-	25	3529	c.3355A>G	c.(3355-3357)Att>Gtt	p.I1119V	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1119					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)					TTGCGAAAAATAAATGATATC	0.264																																																	0													24	28	26					17																	67092434		2179	4243	6422	SO:0001583	missense	0			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.3355A>G	17.37:g.67092434T>C	ENSP00000284425:p.Ile1119Val		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I1119V	ENST00000284425.2	37	c.3355	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	9.744	1.165613	0.21538	.	.	ENSG00000154262	ENST00000284425	D	0.87103	-2.21	4.61	1.21	0.21127	.	0.386696	0.21813	N	0.068729	T	0.81264	0.4786	L	0.55103	1.725	0.80722	D	1	B	0.14438	0.01	B	0.26864	0.074	T	0.68010	-0.5522	10	0.27785	T	0.31	.	6.1261	0.20180	0.0:0.319:0.0:0.681	.	1119	Q8N139	ABCA6_HUMAN	V	1119	ENSP00000284425:I1119V	ENSP00000284425:I1119V	I	-	1	0	ABCA6	64604029	0.856000	0.29760	0.917000	0.36280	0.740000	0.42216	0.026000	0.13599	0.082000	0.17018	0.528000	0.53228	ATT	ABCA6	-	NULL	ENSG00000154262		0.264	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0	182	0	T	NM_080284		67092434	-1	tier1	-	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	41.84	82	59	SNP	0.972	C	C	67092434	T	C	67092434	3	2	168	1	0	0	0	0	1	0	0	0	36	1406	49	4	1558	4	ABCA6	17	67092434	Missense_Mutation	SNP	T	TCGA-VR-A8EX-01A-11D-A36J-09	23759762	67092434	14102776	234	42422											
FOXJ1	2302	genome.wustl.edu	37	chr17	74136021	74136021	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagtagcagaagttgtcCgtgatccacttgtagatggc	10	10	13	8	2	0	3	0	1	0	2	2	4	2	4	2	2	1	4	2	2	4	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr17:74136021C>A	ENST00000322957.6	-	2	810	c.456G>T	c.(454-456)acG>acT	p.T152T	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA|RNF157_ENST00000589912.1_5'Flank|RNF157-AS1_ENST00000586627.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	152					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)			AGAAGTTGTCCGTGATCCACT	0.632																																																	0													67	48	54					17																	74136021		2203	4300	6503	SO:0001819	synonymous_variant	0			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.456G>T	17.37:g.74136021C>A			O00630	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.T152	ENST00000322957.6	37	c.456	CCDS32739.1	17																																																																																			FOXJ1	-	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	ENSG00000129654		0.632	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ1	HGNC	protein_coding	OTTHUMT00000449856.1	-	0	33	0	C	NM_001454		74136021	-1	tier1	-	no_errors	ENST00000322957	ensembl	human	known	74_37	silent	12.50	21	3	SNP	0.800	A	A	74136021	C	A	74136021	2	1	168	1	0	0	0	0	0	0	0	1	6035	639	23	2		2	FOXJ1	17	74136021	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	7043587	74136021	7059189	235	42423											
LAMA1	284217	genome.wustl.edu	37	chr18	7040152	7040152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccacaggagacacaggtcgGgtaatccttatagccaagtt	12	8	10	11	1	0	1	0	0	0	1	2	2	1	1	3	3	1	2	3	3	4	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr18:7040152G>A	ENST00000389658.3	-	10	1438	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	449	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)	p.P449S(1)		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)				ACACAGGTCGGGTAATCCTTA	0.527																																																	1	Substitution - Missense(1)	skin(1)											133	120	124					18																	7040152		2203	4300	6503	SO:0001583	missense	0			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.1345C>T	18.37:g.7040152G>A	ENSP00000374309:p.Pro449Ser			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P449S	ENST00000389658.3	37	c.1345	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593144	0.86953	.	.	ENSG00000101680	ENST00000389658	T	0.61742	0.08	5.32	5.32	0.75619	EGF-like, laminin (4);	0.118515	0.56097	D	0.000021	T	0.72486	0.3466	L	0.58810	1.83	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.67518	-0.5650	10	0.30854	T	0.27	.	19.1901	0.93663	0.0:0.0:1.0:0.0	.	449	P25391	LAMA1_HUMAN	S	449	ENSP00000374309:P449S	ENSP00000374309:P449S	P	-	1	0	LAMA1	7030152	1.000000	0.71417	0.998000	0.56505	0.652000	0.38707	9.347000	0.97059	2.775000	0.95449	0.655000	0.94253	CCG	LAMA1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000101680		0.527	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1		0	60	0	G	NM_005559		7040152	-1			no_errors	ENST00000389658	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	A	A	7040152	G	A	7040152	3	1	168	1	0	0	0	0	1	0	0	0	8633	1232	43	3	8098	3	LAMA1	18	7040152	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09		7040152	71037096	236	42424											
MEP1B	4225	genome.wustl.edu	37	chr18	29797884	29797884	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attgcaccaggaagaaatatCgtgaaaggatgagctcaaat	17	8	10	6	1	1	3	1	2	0	1	2	5	1	5	1	2	2	2	1	2	5	2	rs184031989		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr18:29797884C>G	ENST00000269202.6	+	14	2094	c.2047C>G	c.(2047-2049)Cgt>Ggt	p.R683G	MEP1B_ENST00000581447.1_Missense_Mutation_p.R683G	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	683					digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAAGAAATATCGTGAAAGGAT	0.408																																																	0													143	144	143					18																	29797884		1990	4170	6160	SO:0001583	missense	0			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.2047C>G	18.37:g.29797884C>G	ENSP00000269202:p.Arg683Gly		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.R683G	ENST00000269202.6	37	c.2047	CCDS45846.1	18	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115822	0.37339	.	.	ENSG00000141434	ENST00000269202	T	0.21543	2.0	5.41	-0.0116	0.13991	.	0.885837	0.10206	N	0.702641	T	0.22781	0.0550	M	0.79258	2.445	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.29792	-1.0000	10	0.41790	T	0.15	-0.4476	5.6071	0.17385	0.4949:0.3418:0.0901:0.0731	.	683	Q16820	MEP1B_HUMAN	G	683	ENSP00000269202:R683G	ENSP00000269202:R683G	R	+	1	0	MEP1B	28051882	0.000000	0.05858	0.014000	0.15608	0.346000	0.29079	-0.018000	0.12568	0.226000	0.20979	0.467000	0.42956	CGT	MEP1B	-	NULL	ENSG00000141434		0.408	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MEP1B	HGNC	protein_coding	OTTHUMT00000447755.1	-	0	76	0	C	NM_005925		29797884	1	tier1	-	no_errors	ENST00000269202	ensembl	human	known	74_37	missense	8.47	54	5	SNP	0.101	G	G	29797884	C	G	29797884	3	3	168	1	0	0	0	0	1	0	0	0	9514	884	31	5	2101	5	MEP1B	18	29797884	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	22757732	29797884	48279364	237	42425											
ZNF396	252884	genome.wustl.edu	37	chr18	32953438	32953438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgtggtcttaaggactGaagctcccatgatgctccct	9	11	9	12	0	1	2	0	2	1	0	3	3	3	3	3	2	2	2	3	2	2	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr18:32953438G>T	ENST00000589332.1	-	3	675	c.544C>A	c.(544-546)Cag>Aag	p.Q182K	ZNF396_ENST00000306346.1_Missense_Mutation_p.Q182K|ZNF396_ENST00000586687.1_Missense_Mutation_p.Q182K			Q96N95	ZN396_HUMAN	zinc finger protein 396	182					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)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CTTAAGGACTGAAGCTCCCAT	0.522																																																	0													109	99	102					18																	32953438		2203	4300	6503	SO:0001583	missense	0			AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"-", "Zinc fingers, C2H2-type"	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.544C>A	18.37:g.32953438G>T	ENSP00000466500:p.Gln182Lys		A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q182K	ENST00000589332.1	37	c.544		18	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279165	0.23307	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	T	0.06933	3.24	4.67	2.89	0.33648	.	1.553920	0.04687	U	0.413432	T	0.06600	0.0169	N	0.24115	0.695	0.09310	N	1	B	0.32160	0.358	B	0.27500	0.08	T	0.39440	-0.9614	10	0.28530	T	0.3	.	7.3645	0.26766	0.1999:0.0:0.8001:0.0	.	182	Q96N95-3	.	K	182	ENSP00000302310:Q182K	ENSP00000302310:Q182K	Q	-	1	0	ZNF396	31207436	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.522000	0.22909	0.708000	0.31955	-0.258000	0.10820	CAG	ZNF396	-	NULL	ENSG00000186496		0.522	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	ZNF396	HGNC	protein_coding	OTTHUMT00000255766.1	-	0	70	0	G	NM_145756		32953438	-1	tier1	-	no_errors	ENST00000589332	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.002	T	T	32953438	G	T	32953438	3	4	168	1	0	0	0	0	1	0	0	0	17930	1299	45	3	469	3	ZNF396	18	32953438	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	3155554	32953438	45123810	238	42426											
SEC11C	90701	genome.wustl.edu	37	chr18	56819910	56819910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacagagtaatcaaagttCatgaaaagtaaagaggcttt	17	11	8	5	0	3	3	3	1	0	2	3	3	3	3	0	1	0	4	0	1	6	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr18:56819910C>T	ENST00000587834.1	+	3	812	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	SEC11C_ENST00000588875.1_Missense_Mutation_p.H114Y	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	114					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AATCAAAGTTCATGAAAAGTA	0.343																																																	0													65	68	67					18																	56819910		2203	4300	6503	SO:0001583	missense	0			AF212233	CCDS11970.1	18q21.32	2006-11-07	2006-11-07	2006-11-07	ENSG00000166562	ENSG00000166562			23400	protein-coding gene	gene with protein product			"SEC11-like 3 (S. cerevisiae)"	SEC11L3			Standard	NM_033280		Approved	SPC21, SPCS4C	uc002lht.3	Q9BY50	OTTHUMG00000132762	ENST00000587834.1:c.340C>T	18.37:g.56819910C>T	ENSP00000468633:p.His114Tyr		B2RAA3	Missense_Mutation	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Peptidase_S26B,tigrfam_Peptidase_S26B	p.H114Y	ENST00000587834.1	37	c.340	CCDS11970.1	18	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524619	0.85600	.	.	ENSG00000166562	ENST00000299714;ENST00000509791	.	.	.	5.48	5.48	0.80851	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S24/S26A/S26B (1);	0.000000	0.64402	D	0.000001	T	0.71846	0.3388	M	0.81341	2.54	0.80722	D	1	P	0.46912	0.886	P	0.46585	0.521	T	0.75139	-0.3423	9	0.48119	T	0.1	-13.5098	18.9821	0.92758	0.0:1.0:0.0:0.0	.	114	Q9BY50	SC11C_HUMAN	Y	114	.	ENSP00000299714:H114Y	H	+	1	0	SEC11C	54970890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.572000	0.86782	0.655000	0.94253	CAT	SEC11C	-	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,tigrfam_Peptidase_S26B	ENSG00000166562		0.343	SEC11C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC11C	HGNC	protein_coding	OTTHUMT00000256134.2	-	0	78	0	C	NM_033280		56819910	1	tier1	-	no_errors	ENST00000587834	ensembl	human	known	74_37	missense	6.58	71	5	SNP	1.000	T	T	56819910	C	T	56819910	3	4	168	1	0	0	0	0	1	0	0	0	14024	826	29	3	350	3	SEC11C	18	56819910	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	23866472	56819910	21257338	239	42427											
VPS4B	9525	genome.wustl.edu	37	chr18	61070965	61070965	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagatgaggaaatttaatAggcagtatcacagcctcttt	16	11	8	6	0	2	2	1	1	1	1	2	3	2	3	1	2	1	2	1	2	6	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr18:61070965A>G	ENST00000238497.5	-	5	662	c.459T>C	c.(457-459)ccT>ccC	p.P153P	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	153					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GAAATTTAATAGGCAGTATCA	0.368																																																	0													76	71	73					18																	61070965		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"ATPases / AAA-type"	10895	protein-coding gene	gene with protein product		609983	"suppressor of K+ transport defect 1", "vacuolar protein sorting 4B (yeast)"	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.459T>C	18.37:g.61070965A>G			Q69HW4|Q9GZS7	Silent	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.P153	ENST00000238497.5	37	c.459	CCDS11983.1	18																																																																																			VPS4B	-	superfamily_P-loop_NTPase	ENSG00000119541		0.368	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	-	0	97	0	A	NM_004869		61070965	-1	tier1	-	no_errors	ENST00000238497	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.642	G	G	61070965	A	G	61070965	2	3	168	1	0	0	0	0	0	0	0	1	17262	407	15	4		4	VPS4B	18	61070965	Silent	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	4251055	61070965	17006283	240	42428											
DSEL	92126	genome.wustl.edu	37	chr18	65180960	65180960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgttgatattaaaatggcGctgggccagaaaaacatact	14	11	10	6	1	0	2	0	1	0	1	0	2	0	2	1	2	2	3	1	2	6	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr18:65180960G>A	ENST00000310045.7	-	2	2389	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	296					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)				TTAAAATGGCGCTGGGCCAGA	0.398																																																	0													72	77	75					18																	65180960		2203	4300	6503	SO:0001583	missense	0			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.916C>T	18.37:g.65180960G>A	ENSP00000310565:p.Arg306Cys		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.R306C	ENST00000310045.7	37	c.916	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474135	0.63737	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.27720	1.65	4.62	3.75	0.43078	.	0.000000	0.85682	U	0.000000	T	0.36248	0.0960	M	0.78049	2.395	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.34625	-0.9821	10	0.87932	D	0	.	12.9458	0.58371	0.0796:0.0:0.9204:0.0	.	296	Q8IZU8	DSEL_HUMAN	C	306;296	ENSP00000310565:R306C	ENSP00000310565:R306C	R	-	1	0	DSEL	63331940	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.761000	0.85260	1.093000	0.41377	0.462000	0.41574	CGC	DSEL	-	superfamily_Chondroitin_lyas	ENSG00000171451		0.398	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	-	0	62	0	G	NM_032160		65180960	-1	tier1	-	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	23.53	65	20	SNP	1.000	A	A	65180960	G	A	65180960	3	1	168	1	0	0	0	0	1	0	0	0	4789	1087	38	1	2756	1	DSEL	18	65180960	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	4109995	65180960	12896288	241	42429											
C19orf21	126353	genome.wustl.edu	37	chr19	757214	757214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcggagaacagggaggatGagggttggcaggtttaccgc	10	7	17	7	2	0	2	0	1	0	1	1	5	0	4	1	6	2	3	1	6	2	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:757214G>A	ENST00000215582.6	+	2	371	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	90					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CAGGGAGGATGAGGGTTGGCA	0.672																																																	0													60	55	57					19																	757214		2203	4300	6503	SO:0001583	missense	0			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.268G>A	19.37:g.757214G>A	ENSP00000215582:p.Glu90Lys			Missense_Mutation	SNP	NULL	p.E90K	ENST00000215582.6	37	c.268	CCDS12042.1	19	.	.	.	.	.	.	.	.	.	.	G	14.08	2.430145	0.43122	.	.	ENSG00000099812	ENST00000215582	T	0.68765	-0.35	1.73	-1.21	0.09524	.	.	.	.	.	T	0.44644	0.1303	L	0.40543	1.245	0.09310	N	1	P	0.41041	0.736	B	0.28784	0.094	T	0.35025	-0.9805	9	0.56958	D	0.05	.	2.9249	0.05781	0.1738:0.0:0.5591:0.267	.	90	Q8IVT2	CS021_HUMAN	K	90	ENSP00000215582:E90K	ENSP00000215582:E90K	E	+	1	0	C19orf21	708214	0.002000	0.14202	0.005000	0.12908	0.010000	0.07245	-0.080000	0.11339	-0.276000	0.09206	-0.521000	0.04368	GAG	MISP	-	NULL	ENSG00000099812		0.672	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MISP	HGNC	protein_coding	OTTHUMT00000457600.2	-	0	97	0	G	NM_173481		757214	1	tier1	-	no_errors	ENST00000215582	ensembl	human	known	74_37	missense	9.02	111	11	SNP	0.000	A	A	757214	G	A	757214	3	1	168	1	0	0	0	0	1	0	0	0	1920	1291	45	3	270	3	C19orf21	19	757214	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09		757214	58371769	242	42430											
ZNF556	80032	genome.wustl.edu	37	chr19	2878078	2878078	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtctataaatgtgaaacGtgtgggaaaacgtatggttg	15	11	12	3	2	1	1	0	1	1	0	1	2	1	2	0	2	2	2	0	2	8	4	rs371373885		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:2878078G>A	ENST00000307635.2	+	4	1209	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	ZNF556_ENST00000586426.1_Silent_p.T373T	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	374					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)		AATGTGAAACGTGTGGGAAAA	0.488																																																	0													80	74	76					19																	2878078		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1122G>A	19.37:g.2878078G>A			Q96GM3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T374	ENST00000307635.2	37	c.1122	CCDS12097.1	19																																																																																			ZNF556	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172000		0.488	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF556	HGNC	protein_coding	OTTHUMT00000451638.2	-	0	67	0	G	NM_024967		2878078	1	tier1	-	no_errors	ENST00000307635	ensembl	human	known	74_37	silent	9.38	58	6	SNP	0.007	A	A	2878078	G	A	2878078	2	1	168	1	0	0	0	0	0	0	0	1	18035	1132	40	1		1	ZNF556	19	2878078	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2120864	2878078	56250905	243	42431											
C3	718	genome.wustl.edu	37	chr19	6710693	6710693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtccacccacacggagtcgGccaccacctccctctggccg	6	5	9	21	4	1	0	0	0	1	0	4	1	3	1	7	3	0	0	7	3	0	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:6710693G>A	ENST00000245907.6	-	13	1735	c.1643C>T	c.(1642-1644)gCc>gTc	p.A548V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	548					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)	CACGGAGTCGGCCACCACCTC	0.657																																																	0													47	40	42					19																	6710693		2203	4300	6503	SO:0001583	missense	0			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.1643C>T	19.37:g.6710693G>A	ENSP00000245907:p.Ala548Val		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.A548V	ENST00000245907.6	37	c.1643	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185154	0.78677	.	.	ENSG00000125730	ENST00000245907	T	0.67865	-0.29	5.09	5.09	0.68999	Alpha-2-macroglobulin, N-terminal 2 (1);	0.112676	0.64402	N	0.000010	D	0.85410	0.5690	M	0.91612	3.225	0.38715	D	0.953316	D	0.76494	0.999	D	0.79108	0.992	D	0.89347	0.3658	10	0.56958	D	0.05	.	17.2723	0.87105	0.0:0.0:1.0:0.0	.	548	P01024	CO3_HUMAN	V	548	ENSP00000245907:A548V	ENSP00000245907:A548V	A	-	2	0	C3	6661693	1.000000	0.71417	0.966000	0.40874	0.013000	0.08279	8.960000	0.93117	2.380000	0.81148	0.655000	0.94253	GCC	C3	-	pfam_A2M_N_2	ENSG00000125730		0.657	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2		0	64	0	G	NM_000064		6710693	-1			no_errors	ENST00000245907	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	6710693	G	A	6710693	3	1	168	1	0	0	0	0	1	0	0	0	2211	1203	42	3	3464	3	C3	19	6710693	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	3832615	6710693	52418290	244	42432											
FBN3	84467	genome.wustl.edu	37	chr19	8161420	8161420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcagtcaccatggctaCagacattcgggatctcccga	10	8	9	14	2	2	1	1	0	1	1	4	3	2	2	3	2	2	2	3	2	1	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:8161420C>T	ENST00000600128.1	-	44	5861	c.5447G>A	c.(5446-5448)tGt>tAt	p.C1816Y	FBN3_ENST00000601739.1_Missense_Mutation_p.C1816Y|FBN3_ENST00000270509.2_Missense_Mutation_p.C1816Y			Q75N90	FBN3_HUMAN	fibrillin 3	1816	EGF-like 28. {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						ACCATGGCTACAGACATTCGG	0.577																																																	0													124	87	100					19																	8161420		2203	4300	6503	SO:0001583	missense	0				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.5447G>A	19.37:g.8161420C>T	ENSP00000470498:p.Cys1816Tyr		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.C1816Y	ENST00000600128.1	37	c.5447	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133600	0.77662	.	.	ENSG00000142449	ENST00000270509	D	0.99445	-5.91	3.63	3.63	0.41609	Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99704	0.9887	H	0.97732	4.065	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97084	0.9786	10	0.87932	D	0	.	15.6411	0.77001	0.0:1.0:0.0:0.0	.	1816	Q75N90	FBN3_HUMAN	Y	1816	ENSP00000270509:C1816Y	ENSP00000270509:C1816Y	C	-	2	0	FBN3	8067420	1.000000	0.71417	0.943000	0.38184	0.932000	0.56968	5.337000	0.65941	1.695000	0.51148	0.655000	0.94253	TGT	FBN3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN	ENSG00000142449		0.577	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0	30	0	C	NM_032447		8161420	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	8161420	C	T	8161420	3	4	168	1	0	0	0	0	1	0	0	0	5726	478	17	3	3066	3	FBN3	19	8161420	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1450727	8161420	50967563	245	42433											
OR2Z1	284383	genome.wustl.edu	37	chr19	8841727	8841727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggtgtggctgagggcGtcctgttggtcctcatgtct	3	14	16	8	1	2	2	1	2	1	0	4	2	4	2	2	4	0	2	2	4	0	1	rs146942346	byFrequency	TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:8841727G>A	ENST00000324060.2	+	1	412	c.337G>A	c.(337-339)Gtc>Atc	p.V113I		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCTGAGGGCGTCCTGTTGGT	0.532																																																	0								G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	128	101	110		337	-3.8	0.9	19	dbSNP_134	110	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR2Z1	NM_001004699.1	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	113/315	8841727	4,13002	2203	4300	6503	SO:0001583	missense	0			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.337G>A	19.37:g.8841727G>A	ENSP00000316284:p.Val113Ile		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V113I	ENST00000324060.2	37	c.337	CCDS32895.1	19	.	.	.	.	.	.	.	.	.	.	G	3.873	-0.027459	0.07589	2.27E-4	3.49E-4	ENSG00000181733	ENST00000324060	T	0.02974	4.09	4.33	-3.76	0.04359	GPCR, rhodopsin-like superfamily (1);	1.086380	0.07134	N	0.846007	T	0.02119	0.0066	N	0.21583	0.68	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.48019	-0.9071	10	0.45353	T	0.12	.	5.5655	0.17168	0.4632:0.3465:0.1902:0.0	.	113	Q8NG97	OR2Z1_HUMAN	I	113	ENSP00000316284:V113I	ENSP00000316284:V113I	V	+	1	0	OR2Z1	8702727	0.000000	0.05858	0.938000	0.37757	0.021000	0.10359	-1.234000	0.02931	-0.222000	0.09958	-0.270000	0.10280	GTC	OR2Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181733		0.532	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	HGNC	protein_coding	OTTHUMT00000459954.1		0	24	0	G			8841727	1			no_errors	ENST00000324060	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.005	A	A	8841727	G	A	8841727	3	1	168	1	0	0	0	0	1	0	0	0	11075	1145	40	1	339	1	OR2Z1	19	8841727	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	680307	8841727	50287256	246	42434											
MUC16	94025	genome.wustl.edu	37	chr19	9064268	9064268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaagatatctgtggttgtCgccgggccagaggtgagaag	9	8	15	9	2	1	3	0	1	1	3	2	4	1	3	3	3	0	1	3	3	3	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:9064268C>T	ENST00000397910.4	-	3	23381	c.23178G>A	c.(23176-23178)gcG>gcA	p.A7726A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7728	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						CTGTGGTTGTCGCCGGGCCAG	0.522																																																	0													127	119	122					19																	9064268		1997	4169	6166	SO:0001819	synonymous_variant	0			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.23178G>A	19.37:g.9064268C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A7726	ENST00000397910.4	37	c.23178	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	30	0	C	NM_024690		9064268	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	13.64	38	6	SNP	0.000	T	T	9064268	C	T	9064268	2	4	168	1	0	0	0	0	0	0	0	1	10011	871	31	1		1	MUC16	19	9064268	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	222541	9064268	50064715	247	42435											
MUC16	94025	genome.wustl.edu	37	chr19	9084035	9084035	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgactaccaaaaggctctCaggagtagctgaagtttccc	12	9	10	10	0	1	2	1	2	1	0	3	3	2	3	2	2	2	4	2	2	5	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:9084035C>A	ENST00000397910.4	-	1	7983	c.7780G>T	c.(7780-7782)Gag>Tag	p.E2594*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2594	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						AAAAGGCTCTCAGGAGTAGCT	0.468																																																	0													146	142	143					19																	9084035		1946	4141	6087	SO:0001587	stop_gained	0			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.7780G>T	19.37:g.9084035C>A	ENSP00000381008:p.Glu2594*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.E2594*	ENST00000397910.4	37	c.7780	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	48	14.416247	0.99794	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	2594	.	ENSP00000381008:E2594X	E	-	1	0	MUC16	8945035	0.009000	0.17119	0.114000	0.21550	0.117000	0.20001	0.305000	0.19254	0.300000	0.22699	0.305000	0.20034	GAG	MUC16	-	NULL	ENSG00000181143		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	71	0	C	NM_024690		9084035	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	0.151	A	A	9084035	C	A	9084035	4	1	168	1	0	0	0	0	0	1	0	0	10011	835	29	3	36079	3	MUC16	19	9084035	Nonsense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	19767	9084035	50044948	248	42436											
ZNF799	90576	genome.wustl.edu	37	chr19	12501412	12501412	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatgtctatgcaaggaactGagagaagcaaatgctttccc	13	11	9	8	0	1	2	0	1	1	1	2	4	2	3	1	1	4	3	1	1	6	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:12501412G>C	ENST00000430385.3	-	4	2000	c.1800C>G	c.(1798-1800)ctC>ctG	p.L600L	ZNF799_ENST00000419318.1_Silent_p.L568L|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	600					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						GCAAGGAACTGAGAGAAGCAA	0.413																																																	0													77	82	80					19																	12501412		2202	4296	6498	SO:0001819	synonymous_variant	0			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.1800C>G	19.37:g.12501412G>C				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L600	ENST00000430385.3	37	c.1800	CCDS45989.1	19																																																																																			ZNF799	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196466		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	HGNC	protein_coding	OTTHUMT00000344099.2	-	0	91	0	G	NM_001080821		12501412	-1	tier1	-	no_errors	ENST00000430385	ensembl	human	known	74_37	silent	7.22	90	7	SNP	0.030	C	C	12501412	G	C	12501412	2	2	168	1	0	0	0	0	0	0	0	1	18214	1277	45	5		5	ZNF799	19	12501412	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	3417377	12501412	46627571	249	42437											
ZNF799	90576	genome.wustl.edu	37	chr19	12502895	12502895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgacttctccactcataCggctttcatatggacctact	9	14	6	12	1	3	2	2	2	1	0	4	3	3	3	2	2	2	1	2	2	3	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:12502895C>T	ENST00000430385.3	-	4	517	c.317G>A	c.(316-318)cGt>cAt	p.R106H	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R106H|ZNF799_ENST00000419318.1_Missense_Mutation_p.R74H|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	106					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						TCCACTCATACGGCTTTCATA	0.418																																																	0													157	143	148					19																	12502895		2203	4300	6503	SO:0001583	missense	0			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.317G>A	19.37:g.12502895C>T	ENSP00000411084:p.Arg106His			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R106H	ENST00000430385.3	37	c.317	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	C	3.487	-0.104637	0.06967	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.07908	3.15;3.27	1.31	-2.61	0.06171	.	.	.	.	.	T	0.03178	0.0093	N	0.05050	-0.12	0.09310	N	1	B	0.17667	0.023	B	0.06405	0.002	T	0.35943	-0.9768	9	0.52906	T	0.07	.	1.4446	0.02361	0.17:0.4202:0.1703:0.2395	.	106	Q96GE5	ZN799_HUMAN	H	74;106	ENSP00000415278:R74H;ENSP00000411084:R106H	ENSP00000415278:R74H	R	-	2	0	ZNF799	12363895	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.730000	0.04915	-2.998000	0.00277	-0.634000	0.03986	CGT	ZNF799	-	NULL	ENSG00000196466		0.418	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	HGNC	protein_coding	OTTHUMT00000344099.2	-	0	76	0	C	NM_001080821		12502895	-1	tier1	-	no_errors	ENST00000430385	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.000	T	T	12502895	C	T	12502895	3	4	168	1	0	0	0	0	1	0	0	0	18214	536	19	1	1618	1	ZNF799	19	12502895	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1483	12502895	46626088	250	42438											
ZNF791	163049	genome.wustl.edu	37	chr19	12738587	12738587	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggtagtcaatgtgcaGaaaacttcagtcccaatctc	15	9	8	9	0	3	2	2	0	1	2	5	2	4	2	1	1	2	2	1	1	7	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:12738587G>T	ENST00000343325.4	+	4	406	c.244G>T	c.(244-246)Gaa>Taa	p.E82*	AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.E50*|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_Missense_Mutation_p.Q61H|ZNF791_ENST00000540038.1_5'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	82	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TCAATGTGCAGAAAACTTCAG	0.418																																																	0													142	137	139					19																	12738587		2203	4300	6503	SO:0001587	stop_gained	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.244G>T	19.37:g.12738587G>T	ENSP00000342974:p.Glu82*		B7Z586|Q8NC99	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E82*	ENST00000343325.4	37	c.244	CCDS12273.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.96|15.96	2.987298|2.987298	0.53934|0.53934	.|.	.|.	ENSG00000173875|ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122|ENST00000446165	.|T	.|0.01947	.|4.54	1.51|1.51	0.451|0.451	0.16629|0.16629	.|.	.|.	.|.	.|.	.|.	.|T	.|0.04724	.|0.0128	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44421	.|-0.9329	.|6	0.02654|0.72032	T|D	1|0.01	.|.	5.8208|5.8208	0.18526|0.18526	0.1935:0.0:0.8065:0.0|0.1935:0.0:0.8065:0.0	.|.	.|.	.|.	.|.	X|H	82;82;50|61	.|ENSP00000412981:Q61H	ENSP00000342974:E82X|ENSP00000412981:Q61H	E|Q	+|+	1|3	0|2	ZNF791|ZNF791	12599587|12599587	0.071000|0.071000	0.21146|0.21146	0.030000|0.030000	0.17652|0.17652	0.129000|0.129000	0.20672|0.20672	0.772000|0.772000	0.26647|0.26647	0.201000|0.201000	0.20466|0.20466	0.484000|0.484000	0.47621|0.47621	GAA|CAG	ZNF791	-	pfscan_Krueppel-associated_box	ENSG00000173875		0.418	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	-	0	87	0	G	NM_153358		12738587	1	tier1	-	no_errors	ENST00000343325	ensembl	human	known	74_37	nonsense	11.82	97	13	SNP	0.987	T	T	12738587	G	T	12738587	4	4	168	1	0	0	0	0	0	1	0	0	18211	943	33	3	258	3	ZNF791	19	12738587	Nonsense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	235692	12738587	46390396	251	42439											
CASP14	23581	genome.wustl.edu	37	chr19	15164553	15164553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctcactccagcaattccagGaagagctggaaaaattccag	14	8	8	11	0	1	1	1	0	1	1	5	3	4	3	3	2	2	2	3	2	4	2	rs575021361		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:15164553G>C	ENST00000427043.3	+	4	495	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	CASP14_ENST00000221740.1_Missense_Mutation_p.E63Q|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	63					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GCAATTCCAGGAAGAGCTGGA	0.552																																																	0													53	51	52					19																	15164553		2203	4300	6503	SO:0001583	missense	0				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.187G>C	19.37:g.15164553G>C	ENSP00000393417:p.Glu63Gln		O95823|Q3SYC9	Missense_Mutation	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.E63Q	ENST00000427043.3	37	c.187	CCDS12323.1	19	.	.	.	.	.	.	.	.	.	.	g	18.34	3.603561	0.66445	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.20332	2.08;2.08	4.91	3.85	0.44370	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.275757	0.31323	N	0.007841	T	0.27594	0.0678	L	0.38953	1.18	0.37924	D	0.931772	D	0.56746	0.977	P	0.59357	0.856	T	0.07290	-1.0780	10	0.17369	T	0.5	.	11.3032	0.49318	0.0:0.1844:0.8156:0.0	.	63	P31944	CASPE_HUMAN	Q	63	ENSP00000393417:E63Q;ENSP00000221740:E63Q	ENSP00000221740:E63Q	E	+	1	0	CASP14	15025553	1.000000	0.71417	0.958000	0.39756	0.909000	0.53808	3.154000	0.50693	1.038000	0.40049	0.306000	0.20318	GAA	CASP14	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20	ENSG00000105141		0.552	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1	-	0	63	0	G	NM_012114		15164553	1	tier1	-	no_errors	ENST00000221740	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.993	C	C	15164553	G	C	15164553	3	2	168	1	0	0	0	0	1	0	0	0	2677	1175	41	5	197	5	CASP14	19	15164553	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2425966	15164553	43964430	252	42440											
OR10H5	284433	genome.wustl.edu	37	chr19	15904867	15904867	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggtggccgccatgcagggGctaaaccacacctccgtgtc	7	6	14	14	2	0	0	0	0	0	0	2	0	1	0	5	5	2	2	5	5	2	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:15904867G>A	ENST00000308940.8	+	1	107	c.9G>A	c.(7-9)ggG>ggA	p.G3G		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CCATGCAGGGGCTAAACCACA	0.572																																																	0													174	147	156					19																	15904867		2203	4300	6503	SO:0001819	synonymous_variant	0			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.9G>A	19.37:g.15904867G>A			Q6IFJ0|Q96R60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G3	ENST00000308940.8	37	c.9	CCDS32940.1	19																																																																																			OR10H5	-	NULL	ENSG00000172519		0.572	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1		0	61	0	G			15904867	1			no_errors	ENST00000308940	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.000	A	A	15904867	G	A	15904867	2	1	168	1	0	0	0	0	0	0	0	1	10948	1190	42	3		3	OR10H5	19	15904867	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	740314	15904867	43224116	253	42441											
PGLS	25796	genome.wustl.edu	37	chr19	17628148	17628148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgctgatcctgggggtgGgccccgatggtcacacctgc	5	8	14	14	1	1	1	1	1	0	0	2	2	2	1	5	4	2	1	5	4	0	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:17628148G>T	ENST00000252603.2	+	3	492	c.448G>T	c.(448-450)Ggc>Tgc	p.G150C	CTD-3131K8.3_ENST00000596192.1_RNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	150					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CCTGGGGGTGGGCCCCGATGG	0.622																																																	0													127	131	130					19																	17628148		2203	4300	6503	SO:0001583	missense	0			AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.448G>T	19.37:g.17628148G>T	ENSP00000252603:p.Gly150Cys			Missense_Mutation	SNP	tigrfam_6-phosphogluconolactonase_DevB	p.G150C	ENST00000252603.2	37	c.448	CCDS12361.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032005	0.75504	.	.	ENSG00000130313	ENST00000252603	D	0.92149	-2.98	5.02	5.02	0.67125	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.108646	0.64402	D	0.000007	D	0.97920	0.9316	H	0.99117	4.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99585	1.0974	10	0.87932	D	0	-47.5268	15.8711	0.79119	0.0:0.0:1.0:0.0	.	150	O95336	6PGL_HUMAN	C	150	ENSP00000252603:G150C	ENSP00000252603:G150C	G	+	1	0	PGLS	17489148	1.000000	0.71417	0.960000	0.40013	0.595000	0.36748	8.833000	0.92089	2.335000	0.79485	0.478000	0.44815	GGC	PGLS	-	tigrfam_6-phosphogluconolactonase_DevB	ENSG00000130313		0.622	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLS	HGNC	protein_coding	OTTHUMT00000464154.1	-	0	41	0	G			17628148	1	tier1	-	no_errors	ENST00000252603	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	17628148	G	T	17628148	3	4	168	1	0	0	0	0	1	0	0	0	11831	1232	43	3	458	3	PGLS	19	17628148	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1723281	17628148	41500835	254	42442											
GLT25D1	79709	genome.wustl.edu	37	chr19	17690382	17690382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtctgatgaacctcatgcGggatgtggagcgggagggcc	8	7	17	9	3	2	2	1	2	1	0	2	5	2	5	2	4	3	0	2	4	1	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:17690382G>T	ENST00000252599.4	+	10	1478	c.1358G>T	c.(1357-1359)cGg>cTg	p.R453L		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	453					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										AACCTCATGCGGGATGTGGAG	0.597																																																	0													127	117	121					19																	17690382		2203	4300	6503	SO:0001583	missense	0			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.1358G>T	19.37:g.17690382G>T	ENSP00000252599:p.Arg453Leu		Q8NC64	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.R453L	ENST00000252599.4	37	c.1358	CCDS12363.1	19	.	.	.	.	.	.	.	.	.	.	G	7.372	0.627026	0.14257	.	.	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.77489	-1.1	5.12	-4.61	0.03380	.	1.452430	0.03960	N	0.289833	T	0.59542	0.2201	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.13407	0.006;0.009	T	0.50215	-0.8854	10	0.41790	T	0.15	-6.5012	11.8307	0.52293	0.7672:0.0:0.2328:0.0	.	181;453	E9PC06;Q8NBJ5	.;GT251_HUMAN	L	181;453	ENSP00000252599:R453L	ENSP00000252599:R453L	R	+	2	0	GLT25D1	17551382	0.000000	0.05858	0.561000	0.28357	0.011000	0.07611	-0.186000	0.09670	-0.565000	0.06061	0.313000	0.20887	CGG	COLGALT1	-	pfam_Glyco_trans_25	ENSG00000130309		0.597	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLGALT1	HGNC	protein_coding	OTTHUMT00000464216.1		0	50	0	G	NM_024656		17690382	1			no_errors	ENST00000252599	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.004	T	T	17690382	G	T	17690382	3	4	168	1	0	0	0	0	1	0	0	0	6492	1116	39	2	1396	2	GLT25D1	19	17690382	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	62234	17690382	41438601	255	42443											
ZNF506	440515	genome.wustl.edu	37	chr19	19906097	19906097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacattcttcacatttatagCgtttctctccagcatcaatt	10	16	3	12	1	4	0	2	0	2	0	6	0	5	0	1	0	2	2	1	0	3	7	rs369665225		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:19906097C>T	ENST00000540806.2	-	4	687	c.599G>A	c.(598-600)cGc>cAc	p.R200H	ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000450683.2_Missense_Mutation_p.R168H|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.R200H			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R200H(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ACATTTATAGCGTTTCTCTCC	0.338																																																	1	Substitution - Missense(1)	large_intestine(1)											53	58	56					19																	19906097		2161	4279	6440	SO:0001583	missense	0			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"Zinc fingers, C2H2-type", "-"	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.599G>A	19.37:g.19906097C>T	ENSP00000440625:p.Arg200His		B3KTH6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R200H	ENST00000540806.2	37	c.599	CCDS42531.1	19	.	.	.	.	.	.	.	.	.	.	g	13.84	2.358024	0.41801	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.07567	3.18;3.18;3.18	0.974	-1.95	0.07548	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.12182	0.205	0.27189	N	0.960457	P;D	0.63046	0.927;0.992	B;P	0.47864	0.091;0.559	T	0.33163	-0.9879	9	0.56958	D	0.05	.	6.5027	0.22178	0.0:0.3128:0.6872:0.0	.	200;168	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	H	200;200;168	ENSP00000393835:R200H;ENSP00000440625:R200H;ENSP00000408892:R168H	ENSP00000393835:R200H	R	-	2	0	ZNF506	19767097	0.024000	0.19004	0.142000	0.22268	0.121000	0.20230	0.515000	0.22801	-0.705000	0.05035	-0.717000	0.03617	CGC	ZNF506	-	NULL	ENSG00000081665		0.338	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF506	HGNC	protein_coding	OTTHUMT00000460794.1	-	0	54	0	C	XM_036218		19906097	-1	tier1	-	no_errors	ENST00000443905	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.984	T	T	19906097	C	T	19906097	3	4	168	1	0	0	0	0	1	0	0	0	18000	768	27	1	739	1	ZNF506	19	19906097	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	2215715	19906097	39222886	256	42444											
ZNF737	100129842	genome.wustl.edu	37	chr19	20728406	20728406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgccacattcttcacatttGaagggtttctccccagtatg	8	15	7	11	0	3	1	1	1	2	0	4	1	3	1	3	1	1	2	3	1	2	6			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:20728406G>C	ENST00000427401.4	-	4	697	c.603C>G	c.(601-603)ttC>ttG	p.F201L		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	201					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						CTTCACATTTGAAGGGTTTCT	0.388																																																	0													22	20	21					19																	20728406		692	1590	2282	SO:0001583	missense	0			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.603C>G	19.37:g.20728406G>C	ENSP00000395733:p.Phe201Leu		C9JHM3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F201L	ENST00000427401.4	37	c.603	CCDS54238.1	19	.	.	.	.	.	.	.	.	.	.	-	12.04	1.817521	0.32145	.	.	ENSG00000237440	ENST00000427401	T	0.21932	1.98	0.792	0.792	0.18625	.	.	.	.	.	T	0.15176	0.0366	L	0.28649	0.875	0.19945	N	0.999949	B	0.12013	0.005	B	0.22601	0.04	T	0.29243	-1.0018	9	0.87932	D	0	.	6.9353	0.24463	1.0E-4:0.0:0.9999:0.0	.	201	C9JHM3	.	L	201	ENSP00000395733:F201L	ENSP00000395733:F201L	F	-	3	2	ZNF737	20520246	0.000000	0.05858	0.337000	0.25536	0.338000	0.28826	-0.276000	0.08514	0.159000	0.19401	0.162000	0.16502	TTC	ZNF737	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000237440		0.388	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	-	0	88	0	G	NM_145289		20728406	-1	tier1	-	no_errors	ENST00000427401	ensembl	human	known	74_37	missense	10.29	61	7	SNP	0.588	C	C	20728406	G	C	20728406	3	2	168	1	0	0	0	0	1	0	0	0	18174	1281	45	5	1011	5	ZNF737	19	20728406	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	822309	20728406	38400577	257	42445											
RBM42	79171	genome.wustl.edu	37	chr19	36123901	36123901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccacgtgctacagagagCaggtgaggggccagggtcat	9	5	15	12	1	1	2	1	1	0	1	1	3	1	2	3	4	3	2	3	4	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:36123901C>T	ENST00000262633.4	+	5	611	c.506C>T	c.(505-507)gCa>gTa	p.A169V	RBM42_ENST00000589871.1_Intron|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000588161.1_Intron|RBM42_ENST00000360475.4_Intron|RBM42_ENST00000592202.1_Intron	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	169						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)			CTACAGAGAGCAGGTGAGGGG	0.637																																																	0													113	126	122					19																	36123901		2203	4300	6503	SO:0001583	missense	0			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.506C>T	19.37:g.36123901C>T	ENSP00000262633:p.Ala169Val		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A169V	ENST00000262633.4	37	c.506	CCDS12468.1	19	.	.	.	.	.	.	.	.	.	.	C	27.7	4.850654	0.91277	.	.	ENSG00000126254	ENST00000262633	T	0.06768	3.26	5.18	5.18	0.71444	.	0.057284	0.64402	D	0.000001	T	0.11239	0.0274	L	0.36672	1.1	0.80722	D	1	D	0.58268	0.982	P	0.46825	0.528	T	0.03910	-1.0993	10	0.38643	T	0.18	-8.1047	16.2378	0.82389	0.0:1.0:0.0:0.0	.	169	Q9BTD8	RBM42_HUMAN	V	169	ENSP00000262633:A169V	ENSP00000262633:A169V	A	+	2	0	RBM42	40815741	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.007000	0.70731	2.697000	0.92050	0.655000	0.94253	GCA	RBM42	-	NULL	ENSG00000126254		0.637	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM42	HGNC	protein_coding	OTTHUMT00000459057.2		0	74	0	C	NM_024321		36123901	1			no_errors	ENST00000262633	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	36123901	C	T	36123901	3	4	168	1	0	0	0	0	1	0	0	0	13181	710	25	3	524	3	RBM42	19	36123901	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	15395495	36123901	23005082	258	42446											
NPHS1	4868	genome.wustl.edu	37	chr19	36333075	36333075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttttttgtccaagtgaaaaCgatgttggggacacctcggg	9	12	13	7	2	0	1	0	1	0	0	2	3	1	2	2	3	1	2	2	3	3	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:36333075C>T	ENST00000378910.5	-	19	2613	c.2614G>A	c.(2614-2616)Gtt>Att	p.V872I	NPHS1_ENST00000353632.6_Missense_Mutation_p.V872I	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	872	Ig-like C2-type 8.				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)			CAAGTGAAAACGATGTTGGGG	0.617																																																	0			GRCh37	CD024189	NPHS1	D							24	22	23					19																	36333075		2202	4299	6501	SO:0001583	missense	0				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.2614G>A	19.37:g.36333075C>T	ENSP00000368190:p.Val872Ile		A6NDH2|C3RX61	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V872I	ENST00000378910.5	37	c.2614	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757151	0.49468	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.67171	-0.25;-0.25	4.78	2.67	0.31697	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.386726	0.28538	N	0.014993	T	0.44138	0.1279	N	0.13003	0.285	0.18873	N	0.999988	P	0.50272	0.933	B	0.39339	0.297	T	0.33497	-0.9866	10	0.41790	T	0.15	-12.1659	8.9436	0.35745	0.0:0.8188:0.0:0.1812	.	872	O60500	NPHN_HUMAN	I	872	ENSP00000368190:V872I;ENSP00000343634:V872I	ENSP00000343634:V872I	V	-	1	0	NPHS1	41024915	0.205000	0.23458	0.557000	0.28306	0.961000	0.63080	0.492000	0.22435	0.657000	0.30906	0.558000	0.71614	GTT	NPHS1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000161270		0.617	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	-	0	54	0	C			36333075	-1	tier1	-	no_errors	ENST00000378910	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.856	T	T	36333075	C	T	36333075	3	4	168	1	0	0	0	0	1	0	0	0	10621	536	19	1	1155	1	NPHS1	19	36333075	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	209174	36333075	22795908	259	42447											
RYR1	6261	genome.wustl.edu	37	chr19	39075637	39075637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcggaggcattggggacGagatcgaggaccccgcgggt	7	5	19	10	5	0	1	0	0	0	1	1	6	0	4	2	7	0	1	2	7	0	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:39075637G>A	ENST00000359596.3	+	102	14701	c.14701G>A	c.(14701-14703)Gag>Aag	p.E4901K	RYR1_ENST00000360985.3_Missense_Mutation_p.E4896K|RYR1_ENST00000355481.4_Missense_Mutation_p.E4896K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4901					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)	CATTGGGGACGAGATCGAGGA	0.552																																																	0													226	180	195					19																	39075637		2203	4300	6503	SO:0001583	missense	0			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.14701G>A	19.37:g.39075637G>A	ENSP00000352608:p.Glu4901Lys		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E4901K	ENST00000359596.3	37	c.14701	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879423	0.72294	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98684	-5.07;-5.07;-5.07	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	U	0.000002	D	0.99248	0.9738	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.99289	1.0898	10	0.87932	D	0	.	18.3248	0.90250	0.0:0.0:1.0:0.0	.	4896;4901	P21817-2;P21817	.;RYR1_HUMAN	K	4901;4896;4896	ENSP00000352608:E4901K;ENSP00000347667:E4896K;ENSP00000354254:E4896K	ENSP00000347667:E4896K	E	+	1	0	RYR1	43767477	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	9.656000	0.98514	2.658000	0.90341	0.449000	0.29647	GAG	RYR1	-	pfam_Ion_trans_dom	ENSG00000196218		0.552	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0	72	0	G			39075637	1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	9.09	90	9	SNP	1.000	A	A	39075637	G	A	39075637	3	1	168	1	0	0	0	0	1	0	0	0	13813	1059	37	1	15107	1	RYR1	19	39075637	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2742562	39075637	20053346	260	42448											
CYP2F1	1572	genome.wustl.edu	37	chr19	41628000	41628000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctagaccccagatctcccCgggacttcatccagtgcttc	7	9	8	17	2	2	2	1	0	1	2	5	3	3	3	5	1	1	2	5	1	1	3	rs561045811		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:41628000C>T	ENST00000331105.2	+	6	856	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	262					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						CAGATCTCCCCGGGACTTCAT	0.582													N|||	1	0.000199681	0	0	5008	,	,		13123	0.001		0	False		,,,				2504	0																0													45	44	44					19																	41628000		2192	4288	6480	SO:0001583	missense	0			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.784C>T	19.37:g.41628000C>T	ENSP00000333534:p.Arg262Trp		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R262W	ENST00000331105.2	37	c.784	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	N	13.00	2.107448	0.37145	.	.	ENSG00000197446	ENST00000331105	T	0.71461	-0.57	3.21	2.06	0.26882	.	0.184114	0.43579	U	0.000541	D	0.85699	0.5757	H	0.97540	4.025	0.30040	N	0.812726	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.77557	0.99;0.955;0.742	T	0.79339	-0.1844	10	0.87932	D	0	.	2.8258	0.05485	0.2786:0.556:0.0:0.1654	.	48;262;262	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	W	262	ENSP00000333534:R262W	ENSP00000333534:R262W	R	+	1	2	CYP2F1	46319840	0.268000	0.24133	0.984000	0.44739	0.382000	0.30200	0.832000	0.27490	1.641000	0.50575	0.398000	0.26397	CGG	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197446		0.582	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2		0	37	0	C			41628000	1			no_errors	ENST00000331105	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.861	T	T	41628000	C	T	41628000	3	4	168	1	0	0	0	0	1	0	0	0	4180	643	23	1	802	1	CYP2F1	19	41628000	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	2552363	41628000	17500983	261	42449											
LHB	3972	genome.wustl.edu	37	chr19	49519433	49519433	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggtccacagcgacagctGagagccacagggaaggagac	13	2	15	11	1	0	2	0	1	0	2	1	6	1	3	2	3	3	1	2	3	1	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:49519433G>C	ENST00000221421.2	-	3	317	c.318C>G	c.(316-318)ctC>ctG	p.L106L	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	106					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AGCGACAGCTGAGAGCCACAG	0.657																																																	0													62	66	65					19																	49519433		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"Endogenous ligands"	6584	protein-coding gene	gene with protein product	"lutropin, beta chain", "interstitial cell stimulating hormone, beta chain", "luteinizing hormone beta subunit"	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.318C>G	19.37:g.49519433G>C			Q9UDI0	Silent	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.L106	ENST00000221421.2	37	c.318	CCDS12748.1	19																																																																																			LHB	-	pfam_Cys_knot,smart_Gonadotropin_bsu	ENSG00000104826		0.657	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHB	HGNC	protein_coding	OTTHUMT00000466246.1	-	0	117	0	G	NM_000894		49519433	-1	tier1	-	no_errors	ENST00000221421	ensembl	human	known	74_37	silent	7.69	96	8	SNP	0.998	C	C	49519433	G	C	49519433	2	2	168	1	0	0	0	0	0	0	0	1	8790	1277	45	5		5	LHB	19	49519433	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	7891433	49519433	9609550	262	42450											
MYH14	79784	genome.wustl.edu	37	chr19	50764849	50764849	+	Missense_Mutation	SNP	A	A	T	1	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	acctgaaggtcaccgacatcAtcgtctccttccaggcagct	9	9	8	15	2	3	1	2	1	1	0	6	2	4	1	4	2	1	2	4	2	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:50764849A>T	ENST00000596571.1	+	18	2419	c.2419A>T	c.(2419-2421)Atc>Ttc	p.I807F	MYH14_ENST00000262269.8_Missense_Mutation_p.I848F|MYH14_ENST00000425460.1_Missense_Mutation_p.I815F|MYH14_ENST00000601313.1_Missense_Mutation_p.I848F|MYH14_ENST00000598205.1_Missense_Mutation_p.I815F|MYH14_ENST00000376970.2_Missense_Mutation_p.I840F|MYH14_ENST00000440075.2_Missense_Mutation_p.I848F			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	807	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)		CACCGACATCATCGTCTCCTT	0.662																																																	0													33	38	36					19																	50764849		2129	4249	6378	SO:0001583	missense	0			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.2419A>T	19.37:g.50764849A>T	ENSP00000472819:p.Ile807Phe		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I848F	ENST00000596571.1	37	c.2542	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839701	0.91117	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	4.48	4.48	0.54585	.	.	.	.	.	T	0.77068	0.4076	M	0.84219	2.685	0.80722	D	1	P;D;D	0.63046	0.892;0.985;0.992	B;B;P	0.49252	0.429;0.4;0.604	T	0.81844	-0.0746	9	0.87932	D	0	.	12.0425	0.53460	1.0:0.0:0.0:0.0	.	848;807;815	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	F	807;848;840;815;807;848	ENSP00000406273:I848F;ENSP00000366169:I840F;ENSP00000407879:I815F;ENSP00000262269:I848F	ENSP00000262269:I848F	I	+	1	0	MYH14	55456661	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.830000	0.92063	2.028000	0.59812	0.454000	0.30748	ATC	MYH14	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000105357		0.662	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2		0	53	0	A	NM_024729		50764849	1			no_errors	ENST00000262269	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	50764849	A	T	50764849	3	4	168	1	0	0	0	0	1	0	0	0	10071	217	8	5	2620	5	MYH14	19	50764849	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	1245416	50764849	8364134	263	42451											
ZNF320	162967	genome.wustl.edu	37	chr19	53384421	53384421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagtgtgaactctacGatgtcctgcaagagttgctc	8	12	9	12	1	2	2	0	1	2	1	5	3	3	2	2	0	4	3	2	0	3	2	rs544563388		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:53384421G>T	ENST00000595635.1	-	8	1459	c.958C>A	c.(958-960)Cgt>Agt	p.R320S	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R320S|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGAACTCTACGATGTCCTGCA	0.413																																																	0													101	93	96					19																	53384421		2203	4300	6503	SO:0001583	missense	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.958C>A	19.37:g.53384421G>T	ENSP00000473091:p.Arg320Ser		Q8NDR6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R320S	ENST00000595635.1	37	c.958	CCDS33095.1	19	.	.	.	.	.	.	.	.	.	.	-	9.120	1.008654	0.19199	.	.	ENSG00000182986	ENST00000391781	T	0.17691	2.26	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17789	0.0427	L	0.37630	1.12	0.18873	N	0.999987	P	0.41345	0.746	P	0.47528	0.549	T	0.13710	-1.0499	9	0.72032	D	0.01	.	5.5468	0.17069	0.1814:0.0:0.8186:0.0	.	320	A2RRD8	ZN320_HUMAN	S	320	ENSP00000375660:R320S	ENSP00000375660:R320S	R	-	1	0	ZNF320	58076233	0.000000	0.05858	0.005000	0.12908	0.390000	0.30446	0.044000	0.13992	0.955000	0.37878	0.184000	0.17185	CGT	ZNF320	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182986		0.413	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1		0	64	0	G	NM_207333		53384421	-1			no_errors	ENST00000391781	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.515	T	T	53384421	G	T	53384421	3	4	168	1	0	0	0	0	1	0	0	0	17887	1058	37	2	575	2	ZNF320	19	53384421	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2619572	53384421	5744562	264	42452											
NLRP2	55655	genome.wustl.edu	37	chr19	55494605	55494605	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtttctcactgccctGttctacaccctggagaagga	9	10	9	13	0	2	1	1	0	2	1	3	3	2	2	2	2	3	3	2	2	2	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:55494605G>T	ENST00000543010.1	+	6	1682	c.1539G>T	c.(1537-1539)ctG>ctT	p.L513L	NLRP2_ENST00000427260.2_Silent_p.L490L|NLRP2_ENST00000263437.6_Silent_p.L510L|NLRP2_ENST00000538819.1_Silent_p.L489L|NLRP2_ENST00000391721.4_Silent_p.L489L|NLRP2_ENST00000448584.2_Silent_p.L513L|NLRP2_ENST00000339757.7_Silent_p.L491L|NLRP2_ENST00000537859.1_Silent_p.L491L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	513	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCACTGCCCTGTTCTACACCC	0.562																																																	0													65	61	63					19																	55494605		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1539G>T	19.37:g.55494605G>T			B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L513	ENST00000543010.1	37	c.1539	CCDS12913.1	19																																																																																			NLRP2	-	NULL	ENSG00000022556		0.562	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1		0	47	0	G	NM_017852		55494605	1			no_errors	ENST00000448584	ensembl	human	known	74_37	silent	19.05	34	8	SNP	0.000	T	T	55494605	G	T	55494605	2	4	168	1	0	0	0	0	0	0	0	1	10516	1364	48	3		3	NLRP2	19	55494605	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2110184	55494605	3634378	265	42453											
ZIK1	284307	genome.wustl.edu	37	chr19	58099931	58099931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgacctttgaggacatcGccatttacttctcacaggac	9	12	9	11	1	1	2	1	2	1	0	3	4	1	4	2	2	1	0	2	2	1	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr19:58099931G>A	ENST00000597850.1	+	3	312	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	ZIK1_ENST00000307468.4_Intron|ZIK1_ENST00000599456.1_5'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.A20T|ZIK1_ENST00000598726.1_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	33	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.A33T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		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;0.0257)		TGAGGACATCGCCATTTACTT	0.522																																																	1	Substitution - Missense(1)	endometrium(1)											271	211	231					19																	58099931		2203	4300	6503	SO:0001583	missense	0			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"Zinc fingers, C2H2-type", "-"	33104	protein-coding gene	gene with protein product			"zinc finger protein interacting with K protein 1 homolog (mouse)"				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.97G>A	19.37:g.58099931G>A	ENSP00000472867:p.Ala33Thr		O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A33T	ENST00000597850.1	37	c.97	CCDS33135.1	19	.	.	.	.	.	.	.	.	.	.	g	16.93	3.256760	0.59321	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.03065	4.06	3.3	2.25	0.28309	Krueppel-associated box (4);	.	.	.	.	T	0.11965	0.0291	M	0.64567	1.98	0.27912	N	0.938562	D;D	0.89917	0.968;1.0	P;D	0.91635	0.447;0.999	T	0.08680	-1.0710	9	0.56958	D	0.05	.	5.188	0.15195	0.1144:0.0:0.683:0.2026	.	20;33	F5H435;Q3SY52	.;ZIK1_HUMAN	T	20;14;33	ENSP00000438487:A20T	ENSP00000303820:A33T	A	+	1	0	ZIK1	62791743	0.947000	0.32204	0.578000	0.28575	0.972000	0.66771	0.677000	0.25262	0.713000	0.32060	0.442000	0.29010	GCC	ZIK1	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000171649		0.522	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZIK1	HGNC	protein_coding	OTTHUMT00000466791.1	-	0	107	0	G	NM_001010879		58099931	1	tier1	-	no_errors	ENST00000597850	ensembl	human	known	74_37	missense	31.25	66	30	SNP	0.985	A	A	58099931	G	A	58099931	3	1	168	1	0	0	0	0	1	0	0	0	17731	1087	38	1	107	1	ZIK1	19	58099931	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2605326	58099931	1029052	266	42454											
CPXM1	56265	genome.wustl.edu	37	chr20	2777869	2777869	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggccaggatctctgcccgGaggcaaggcgcgcctccctg	6	5	14	16	3	1	0	0	0	1	0	3	2	2	2	4	5	1	1	4	5	1	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:2777869G>T	ENST00000380605.2	-	6	865	c.801C>A	c.(799-801)ctC>ctA	p.L267L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	267	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						TCTCTGCCCGGAGGCAAGGCG	0.662																																																	0													23	26	25					20																	2777869		2200	4297	6497	SO:0001819	synonymous_variant	0			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.801C>A	20.37:g.2777869G>T			Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.L267	ENST00000380605.2	37	c.801	CCDS13033.1	20																																																																																			CPXM1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000088882		0.662	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2	-	0	61	0	G	NM_019609		2777869	-1	tier1	-	no_errors	ENST00000380605	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	T	T	2777869	G	T	2777869	2	4	168	1	0	0	0	0	0	0	0	1	3844	1161	41	3		3	CPXM1	20	2777869	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09		2777869	60247651	267	42455											
CD93	22918	genome.wustl.edu	37	chr20	23066586	23066586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtcagggctgcctcccGcctcaggagctgggccagta	5	6	14	16	3	2	0	2	0	0	0	3	1	3	1	5	3	2	3	5	3	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:23066586G>A	ENST00000246006.4	-	1	391	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	82	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.R82W(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCTGCCTCCCGCCTCAGGAGC	0.642																																																	1	Substitution - Missense(1)	pancreas(1)											40	30	34					20																	23066586		2203	4300	6503	SO:0001583	missense	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.244C>T	20.37:g.23066586G>A	ENSP00000246006:p.Arg82Trp		O00274	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin	p.R82W	ENST00000246006.4	37	c.244	CCDS13149.1	20	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890921	0.33348	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.80653	-1.4	5.06	-8.18	0.01053	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.625640	0.03830	N	0.268985	T	0.72606	0.3481	L	0.58510	1.815	0.09310	N	1	P	0.51791	0.948	P	0.45138	0.471	T	0.69514	-0.5125	10	0.66056	D	0.02	-0.8011	1.0558	0.01590	0.3846:0.0955:0.2191:0.3009	.	82	Q9NPY3	C1QR1_HUMAN	W	82	ENSP00000246006:R82W	ENSP00000246006:R82W	R	-	1	2	CD93	23014586	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.234000	0.09028	-1.284000	0.02390	0.655000	0.94253	CGG	CD93	-	pirsf_CD93/CD141,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000125810		0.642	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	-	0	110	0	G	NM_012072		23066586	-1	tier1	-	no_errors	ENST00000246006	ensembl	human	known	74_37	missense	23.40	72	22	SNP	0.000	A	A	23066586	G	A	23066586	3	1	168	1	0	0	0	0	1	0	0	0	3054	1086	38	1	1722	1	CD93	20	23066586	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	20288717	23066586	39958934	268	42456											
MMP24	10893	genome.wustl.edu	37	chr20	33862200	33862200	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaccagaaggaggtggagCggcggaaggagcggcggctg	10	2	21	8	4	0	1	0	0	0	1	0	5	0	5	1	8	3	2	1	8	3	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:33862200C>A	ENST00000246186.6	+	9	1811	c.1726C>A	c.(1726-1728)Cgg>Agg	p.R576R	RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000456790.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	576					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)	GGAGGTGGAGCGGCGGAAGGA	0.632																																																	0													85	101	96					20																	33862200		2127	4219	6346	SO:0001819	synonymous_variant	0			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.1726C>A	20.37:g.33862200C>A			B7ZBG8|Q9H440	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R576	ENST00000246186.6	37	c.1726	CCDS46593.1	20																																																																																			MMP24	-	pfam_Pept_M10A_metallopeptidase_C	ENSG00000125966		0.632	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	-	0	56	0	C	NM_006690		33862200	1	tier1	-	no_errors	ENST00000246186	ensembl	human	known	74_37	silent	23.08	40	12	SNP	0.046	A	A	33862200	C	A	33862200	2	1	168	1	0	0	0	0	0	0	0	1	9699	759	27	2		2	MMP24	20	33862200	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	10795614	33862200	29163320	269	42457											
EIF6	3692	genome.wustl.edu	37	chr20	33868521	33868521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgacattgcccaaggctGagagccgctcctccacccgc	7	7	11	16	2	0	2	0	2	0	1	2	3	2	2	5	2	2	2	5	2	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:33868521G>A	ENST00000374450.3	-	4	569	c.305C>T	c.(304-306)tCa>tTa	p.S102L	RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|EIF6_ENST00000374436.3_Missense_Mutation_p.S102L|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|EDEM2_ENST00000540582.1_5'Flank|MMP24-AS1_ENST00000454184.1_RNA|EIF6_ENST00000374443.3_Intron|EIF6_ENST00000462894.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000456790.1_RNA	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCCAAGGCTGAGAGCCGCTC	0.592																																																	0													180	136	151					20																	33868521		2203	4300	6503	SO:0001583	missense	0			Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"integrin beta 4 binding protein"	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.305C>T	20.37:g.33868521G>A	ENSP00000363574:p.Ser102Leu			Nonsense_Mutation	SNP	NULL	p.Q142*	ENST00000374450.3	37	c.424	CCDS13249.1	20	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397789	0.83120	.	.	ENSG00000242372	ENST00000374436;ENST00000374450;ENST00000456600	.	.	.	4.75	4.75	0.60458	.	0.058123	0.64402	D	0.000001	D	0.90487	0.7020	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94314	0.7548	9	0.87932	D	0	-12.7019	17.1516	0.86779	0.0:0.0:1.0:0.0	.	102	P56537	IF6_HUMAN	L	102	.	ENSP00000363559:S102L	S	-	2	0	EIF6	33331935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.451000	0.80668	2.387000	0.81309	0.555000	0.69702	TCA	EIF6	-	NULL	ENSG00000242372		0.592	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF6	HGNC	protein_coding	OTTHUMT00000078848.3	-	0	65	0	G	NM_002212		33868521	-1	tier1	-	no_errors	ENST00000415116	ensembl	human	known	74_37	nonsense	13.33	52	8	SNP	1.000	A	A	33868521	G	A	33868521	3	1	168	1	0	0	0	0	1	0	0	0	5061	1294	45	3	448	3	EIF6	20	33868521	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	6321	33868521	29156999	270	42458											
C20orf117	140710	genome.wustl.edu	37	chr20	35422656	35422656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgaagaggaagccgggctCgataatgatcttgccctctt	9	10	13	9	2	2	3	0	2	2	1	3	5	2	4	2	3	2	1	2	3	3	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:35422656C>T	ENST00000357779.3	-	14	3441	c.3115G>A	c.(3115-3117)Gag>Aag	p.E1039K	SOGA1_ENST00000456801.2_Missense_Mutation_p.E880K|SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000237536.4_Missense_Mutation_p.E1277K			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1039					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						AAGCCGGGCTCGATAATGATC	0.607																																																	0													51	56	55					20																	35422656		692	1591	2283	SO:0001583	missense	0			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.3115G>A	20.37:g.35422656C>T	ENSP00000350424:p.Glu1039Lys		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	pfam_SOGA	p.E1277K	ENST00000357779.3	37	c.3829		20	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444114	0.83993	.	.	ENSG00000149639	ENST00000237536;ENST00000456801;ENST00000357779	T;T;T	0.22336	1.96;1.99;1.98	5.3	5.3	0.74995	.	0.113192	0.64402	D	0.000012	T	0.42966	0.1226	M	0.68952	2.095	0.40758	D	0.982979	.	.	.	.	.	.	T	0.30765	-0.9967	8	0.72032	D	0.01	-42.3406	17.8764	0.88826	0.0:1.0:0.0:0.0	.	.	.	.	K	1277;880;1039	ENSP00000237536:E1277K;ENSP00000413886:E880K;ENSP00000350424:E1039K	ENSP00000237536:E1277K	E	-	1	0	KIAA0889	34856070	1.000000	0.71417	0.979000	0.43373	0.705000	0.40729	5.118000	0.64673	2.748000	0.94277	0.655000	0.94253	GAG	SOGA1	-	NULL	ENSG00000149639		0.607	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding		-	0	50	0	C	NM_199181		35422656	-1	tier1	-	no_errors	ENST00000237536	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.994	T	T	35422656	C	T	35422656	3	4	168	1	0	0	0	0	1	0	0	0	2090	893	31	1	1226	1	C20orf117	20	35422656	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1554135	35422656	27602864	271	42459											
CTNNBL1	56259	genome.wustl.edu	37	chr20	36396439	36396439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctacagtggctgttgaagaGgctgaaggtgagtttggctg	8	12	16	5	0	1	4	0	3	1	1	1	4	1	4	0	4	1	5	0	4	3	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:36396439G>T	ENST00000361383.6	+	7	860	c.743G>T	c.(742-744)aGg>aTg	p.R248M	CTNNBL1_ENST00000405275.2_Missense_Mutation_p.R221M|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.R61M	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	248					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)				CTGTTGAAGAGGCTGAAGGTG	0.532																																					Ovarian(184;582 2038 3273 4106 42608)												0													105	104	104					20																	36396439		2203	4300	6503	SO:0001583	missense	0			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.743G>T	20.37:g.36396439G>T	ENSP00000355050:p.Arg248Met		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	pfam_CTNNBL1_N,superfamily_ARM-type_fold	p.R221M	ENST00000361383.6	37	c.662	CCDS13298.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.071193	0.93950	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473	T;T;T	0.48836	0.81;0.81;0.8	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.045387	0.85682	D	0.000000	T	0.75925	0.3916	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.987;0.989	T	0.80353	-0.1418	10	0.87932	D	0	-19.3632	19.0426	0.93006	0.0:0.0:1.0:0.0	.	248;61	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	M	248;221;61	ENSP00000355050:R248M;ENSP00000384355:R221M;ENSP00000362572:R61M	ENSP00000355050:R248M	R	+	2	0	CTNNBL1	35829853	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.803000	0.99136	2.748000	0.94277	0.655000	0.94253	AGG	CTNNBL1	-	superfamily_ARM-type_fold	ENSG00000132792		0.532	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	-	0	66	0	G	NM_030877		36396439	1	tier1	-	no_errors	ENST00000405275	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T	T	36396439	G	T	36396439	3	4	168	1	0	0	0	0	1	0	0	0	4027	1000	35	3	769	3	CTNNBL1	20	36396439	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	973783	36396439	26629081	272	42460											
RALGAPB	57148	genome.wustl.edu	37	chr20	37146211	37146211	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatagattaagtatgcctCaaagtgctgctgtcagtacc	12	12	9	8	0	2	2	2	1	0	1	2	2	2	2	2	0	4	4	2	0	6	4			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:37146211C>T	ENST00000262879.6	+	8	1398	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.Q372*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.Q150*|RALGAPB_ENST00000537204.1_Nonsense_Mutation_p.Q372*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.Q372*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	372					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						AAGTATGCCTCAAAGTGCTGC	0.438																																																	0													142	133	136					20																	37146211		2203	4300	6503	SO:0001587	stop_gained	0			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.1114C>T	20.37:g.37146211C>T	ENSP00000262879:p.Gln372*		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.Q372*	ENST00000262879.6	37	c.1114	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	45	11.366448	0.99551	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.07	5.07	0.68467	.	0.053488	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	17.8087	0.88609	0.0:1.0:0.0:0.0	.	.	.	.	X	372;372;372;150;372;372;200	.	ENSP00000262879:Q372X	Q	+	1	0	RALGAPB	36579625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.955000	0.76007	2.515000	0.84797	0.555000	0.69702	CAA	RALGAPB	-	NULL	ENSG00000170471		0.438	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	-	0	82	0	C	NM_020336		37146211	1	tier1	-	no_errors	ENST00000262879	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	1.000	T	T	37146211	C	T	37146211	4	4	168	1	0	0	0	0	0	1	0	0	13060	827	29	3	1140	3	RALGAPB	20	37146211	Nonsense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	749772	37146211	25879309	273	42461											
ACTR5	79913	genome.wustl.edu	37	chr20	37380838	37380838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcagctggttacctccagCgtctcctccagctgaagtac	9	9	9	14	1	1	1	0	1	1	0	4	1	3	1	4	1	6	5	4	1	4	2	rs373165367		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:37380838C>T	ENST00000243903.4	+	3	707	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	224					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)				TTACCTCCAGCGTCTCCTCCA	0.502																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	72	64	67		670	5.6	1	20		67	0,8600		0,0,4300	no	missense	ACTR5	NM_024855.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	224/608	37380838	1,13005	2203	4300	6503	SO:0001583	missense	0			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.670C>T	20.37:g.37380838C>T	ENSP00000243903:p.Arg224Cys		Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.R224C	ENST00000243903.4	37	c.670	CCDS13308.1	20	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639729	0.87760	2.27E-4	0.0	ENSG00000101442	ENST00000243903	D	0.94758	-3.51	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.97439	0.9162	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97601	1.0123	10	0.87932	D	0	-15.4561	20.0118	0.97458	0.0:1.0:0.0:0.0	.	224	Q9H9F9	ARP5_HUMAN	C	224	ENSP00000243903:R224C	ENSP00000243903:R224C	R	+	1	0	ACTR5	36814252	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.201000	0.65163	2.812000	0.96745	0.561000	0.74099	CGT	ACTR5	-	pfam_Actin-related,smart_Actin-related	ENSG00000101442		0.502	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2		0	46	0	C	NM_024855		37380838	1			no_errors	ENST00000243903	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	37380838	C	T	37380838	3	4	168	1	0	0	0	0	1	0	0	0	215	768	27	1	680	1	ACTR5	20	37380838	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	234627	37380838	25644682	274	42462											
TOP1	7150	genome.wustl.edu	37	chr20	39709861	39709861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaagaaggagaagaaaaGaaaactagaagaagaagagg	24	2	12	3	0	0	8	0	0	0	8	0	9	0	8	1	2	2	0	1	2	12	2			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:39709861G>T	ENST00000361337.2	+	7	738	c.488G>T	c.(487-489)aGa>aTa	p.R163I		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	163	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)	GAGAAGAAAAGAAAACTAGAA	0.348			T	NUP98	AML*																																			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													90	95	94					20																	39709861		2203	4300	6503	SO:0001583	missense	0				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.488G>T	20.37:g.39709861G>T	ENSP00000354522:p.Arg163Ile		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.R163I	ENST00000361337.2	37	c.488	CCDS13312.1	20	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916554	0.73098	.	.	ENSG00000198900	ENST00000361337	T	0.23754	1.89	5.61	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	L	0.43152	1.355	0.80722	D	1	P	0.39964	0.697	B	0.35413	0.202	T	0.02676	-1.1125	10	0.39692	T	0.17	-6.3397	11.7411	0.51794	0.0822:0.0:0.9178:0.0	.	163	P11387	TOP1_HUMAN	I	163	ENSP00000354522:R163I	ENSP00000354522:R163I	R	+	2	0	TOP1	39143275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.272000	0.65559	1.503000	0.48686	0.655000	0.94253	AGA	TOP1	-	NULL	ENSG00000198900		0.348	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1	HGNC	protein_coding	OTTHUMT00000080397.2	-	0	52	0	G			39709861	1	tier1	-	no_errors	ENST00000361337	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	39709861	G	T	39709861	3	4	168	1	0	0	0	0	1	0	0	0	16411	942	33	3	514	3	TOP1	20	39709861	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	2329023	39709861	23315659	275	42463											
FITM2	128486	genome.wustl.edu	37	chr20	42935620	42935620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcaaagccatgccaaaagCccccttcctggtggcactgc	9	8	9	15	0	1	0	1	0	0	0	2	0	2	0	5	2	4	1	5	2	3	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:42935620C>T	ENST00000396825.3	-	2	454	c.434G>A	c.(433-435)gGc>gAc	p.G145D		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	145					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						ATGCCAAAAGCCCCCTTCCTG	0.562																																																	0													125	89	101					20																	42935620		2203	4300	6503	SO:0001583	missense	0			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.434G>A	20.37:g.42935620C>T	ENSP00000380037:p.Gly145Asp		A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Missense_Mutation	SNP	pfam_FIT	p.G145D	ENST00000396825.3	37	c.434	CCDS33473.1	20	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882765	0.72410	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.84	5.84	0.93424	.	0.208574	0.49916	D	0.000139	D	0.84723	0.5535	M	0.87971	2.92	0.50632	D	0.999886	D	0.76494	0.999	D	0.71184	0.972	D	0.85308	0.1077	9	0.52906	T	0.07	.	20.1533	0.98095	0.0:1.0:0.0:0.0	.	145	Q8N6M3	FITM2_HUMAN	D	145	.	ENSP00000380037:G145D	G	-	2	0	FITM2	42369034	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.804000	0.55568	2.758000	0.94735	0.655000	0.94253	GGC	FITM2	-	pfam_FIT	ENSG00000197296		0.562	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FITM2	HGNC	protein_coding	OTTHUMT00000079342.2	-	0	33	0	C	XM_371399		42935620	-1	tier1	-	no_errors	ENST00000396825	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	42935620	C	T	42935620	3	4	168	1	0	0	0	0	1	0	0	0	5921	739	26	3	358	3	FITM2	20	42935620	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	3225759	42935620	20089900	276	42464											
ZSWIM1	90204	genome.wustl.edu	37	chr20	44511255	44511255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagagactcaaagccccGtggtcagctgccctgcaaag	10	7	11	13	1	2	2	2	1	0	1	2	3	2	2	3	1	4	2	3	1	2	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:44511255G>A	ENST00000372523.1	+	2	119	c.24G>A	c.(22-24)ccG>ccA	p.P8P	ZSWIM1_ENST00000372520.1_Silent_p.P8P	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	8						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TCAAAGCCCCGTGGTCAGCTG	0.488																																																	0													86	89	88					20																	44511255		2203	4300	6503	SO:0001819	synonymous_variant	0			AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"Zinc fingers, SWIM-type"	16155	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 162"	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.24G>A	20.37:g.44511255G>A			Q5JZH2|Q9BR12|Q9BV30	Silent	SNP	pfam_Znf_SWIM,pfscan_Znf_SWIM	p.P8	ENST00000372523.1	37	c.24	CCDS13382.2	20																																																																																			ZSWIM1	-	NULL	ENSG00000168612		0.488	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM1	HGNC	protein_coding	OTTHUMT00000157064.2	-	0	71	0	G	NM_080603		44511255	1	tier1	-	no_errors	ENST00000372520	ensembl	human	known	74_37	silent	6.33	74	5	SNP	0.000	A	A	44511255	G	A	44511255	2	1	168	1	0	0	0	0	0	0	0	1	18288	1132	40	1		1	ZSWIM1	20	44511255	Silent	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	1575635	44511255	18514265	277	42465											
MOCS3	8813	genome.wustl.edu	37	chr20	49576280	49576280	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcgactgtgcagcttgcGgggaacggcccactgtgact	6	8	15	12	3	0	1	0	1	0	0	1	3	0	2	1	4	4	3	1	4	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:49576280G>T	ENST00000371588.5	-	0	0				DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.G301W	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TGCAGCTTGCGGGGAACGGCC	0.592																																																	0													59	62	61					20																	49576280		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576280G>T	Exception_encountered		O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.G301W	ENST00000371588.5	37	c.901	CCDS13434.1	20	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153989	0.57259	.	.	ENSG00000124217	ENST00000244051	T	0.36157	1.27	4.74	3.78	0.43462	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);MoeZ/MoeB (1);	0.057534	0.64402	D	0.000001	T	0.74344	0.3704	H	0.98559	4.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.85458	0.1165	9	.	.	.	-23.4709	14.9576	0.71127	0.0:0.1436:0.8564:0.0	.	301	O95396	MOCS3_HUMAN	W	301	ENSP00000244051:G301W	.	G	+	1	0	MOCS3	49009687	1.000000	0.71417	0.350000	0.25708	0.603000	0.37013	9.123000	0.94387	1.195000	0.43115	0.561000	0.74099	GGG	MOCS3	-	pfam_MoeZ_MoeB,superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000124217		0.592	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCS3	HGNC	protein_coding	OTTHUMT00000079716.1	-	0	42	0	G	NM_003859		49576280	1	tier1	-	no_errors	ENST00000244051	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.999	T	T	49576280	G	T	49576280	1	4	168	0	1	0	0	0	0	0	0	0	9730	1116	39	2		2	MOCS3	20	49576280	5'Flank	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	5065025	49576280	13449240	278	42466											
MYT1	4661	genome.wustl.edu	37	chr20	62843471	62843471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccagggtcacgtgaacagCaaccgcaacacgcacagaag	14	2	12	13	3	1	2	1	1	0	1	1	2	1	2	2	2	4	3	2	2	4	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr20:62843471C>T	ENST00000328439.1	+	9	1861	c.1497C>T	c.(1495-1497)agC>agT	p.S499S	MYT1_ENST00000536311.1_Silent_p.S499S|MYT1_ENST00000360149.4_Silent_p.S201S	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)					ACGTGAACAGCAACCGCAACA	0.662																																					GBM(59;481 1041 20555 21139 33705)												0													128	119	122					20																	62843471		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1497C>T	20.37:g.62843471C>T			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.S499	ENST00000328439.1	37	c.1497	CCDS13558.1	20																																																																																			MYT1	-	pfam_Znf_C2HC	ENSG00000196132		0.662	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	-	0	72	0	C	NM_004535		62843471	1	tier1	-	no_errors	ENST00000536311	ensembl	human	known	74_37	silent	5.88	63	4	SNP	1.000	T	T	62843471	C	T	62843471	2	4	168	1	0	0	0	0	0	0	0	1	10144	709	25	3		3	MYT1	20	62843471	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	13267191	62843471	182049	279	42467											
ITSN1	6453	genome.wustl.edu	37	chr21	35208798	35208798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcagaatgacgatgagctgGccttcaacaagggccagatc	12	6	12	11	2	1	4	1	2	0	2	2	5	1	4	2	2	2	2	2	2	3	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr21:35208798G>A	ENST00000381318.3	+	29	3811	c.3523G>A	c.(3523-3525)Gcc>Acc	p.A1175T	ITSN1_ENST00000399352.1_Missense_Mutation_p.A1170T|ITSN1_ENST00000381291.4_Missense_Mutation_p.A1175T|ITSN1_ENST00000381285.4_Missense_Mutation_p.A1175T|ITSN1_ENST00000399353.1_Missense_Mutation_p.A1133T|ITSN1_ENST00000399349.1_Missense_Mutation_p.A1099T|ITSN1_ENST00000437442.2_Missense_Mutation_p.A1170T|ITSN1_ENST00000399367.3_Missense_Mutation_p.A1170T|ITSN1_ENST00000399355.2_Missense_Mutation_p.A1104T|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1175	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						CGATGAGCTGGCCTTCAACAA	0.562																																																	0													88	75	79					21																	35208798		2203	4300	6503	SO:0001583	missense	0			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.3523G>A	21.37:g.35208798G>A	ENSP00000370719:p.Ala1175Thr		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	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.A1175T	ENST00000381318.3	37	c.3523	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324724	0.81580	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	4.46	4.46	0.54185	Src homology-3 domain (5);	0.059795	0.64402	D	0.000003	T	0.26448	0.0646	N	0.02379	-0.575	0.80722	D	1	B;D;B;D;B;D;P;B;P	0.64830	0.088;0.994;0.048;0.989;0.126;0.98;0.79;0.123;0.743	B;D;B;P;B;P;B;B;P	0.73380	0.407;0.98;0.184;0.833;0.344;0.833;0.389;0.267;0.661	T	0.51505	-0.8697	10	0.40728	T	0.16	.	17.1476	0.86770	0.0:0.0:1.0:0.0	.	1067;1138;1062;1170;1104;1170;1175;1099;1133	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	T	1133;1175;1175;1175;1104;1170;1170;1104;1099;1170	ENSP00000382290:A1133T;ENSP00000370719:A1175T;ENSP00000370691:A1175T;ENSP00000370685:A1175T;ENSP00000382301:A1170T;ENSP00000382289:A1170T;ENSP00000382292:A1104T;ENSP00000382286:A1099T;ENSP00000387377:A1170T	ENSP00000370685:A1175T	A	+	1	0	ITSN1	34130668	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.327000	0.72910	2.018000	0.59344	0.637000	0.83480	GCC	ITSN1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	ENSG00000205726		0.562	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4		0	45	0	G	NM_003024		35208798	1			no_errors	ENST00000381285	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	A	A	35208798	G	A	35208798	3	1	168	1	0	0	0	0	1	0	0	0	7953	1203	42	3	3633	3	ITSN1	21	35208798	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09		35208798	12921097	280	42468											
PCP4	5121	genome.wustl.edu	37	chr21	41300928	41300928	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggacagaagaaagttcaAgaagaatttgacattgacat	18	9	10	4	0	1	6	1	2	0	4	1	8	1	7	0	1	0	1	0	1	5	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr21:41300928A>G	ENST00000328619.5	+	3	266	c.81A>G	c.(79-81)caA>caG	p.Q27Q	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	27					central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				AGAAAGTTCAAGAAGAATTTG	0.453																																																	0													114	104	107					21																	41300928		2203	4300	6503	SO:0001819	synonymous_variant	0			X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.81A>G	21.37:g.41300928A>G			A6NDJ9|Q6ICS4|Q93059	Silent	SNP	NULL	p.Q27	ENST00000328619.5	37	c.81	CCDS33563.1	21																																																																																			PCP4	-	NULL	ENSG00000183036		0.453	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCP4	HGNC	protein_coding	OTTHUMT00000195025.1	-	0	72	0	A	NM_006198		41300928	1	tier1	-	no_errors	ENST00000328619	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.807	G	G	41300928	A	G	41300928	2	3	168	1	0	0	0	0	0	0	0	1	11637	69	3	4		4	PCP4	21	41300928	Silent	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09	6092130	41300928	6828967	281	42469											
NDUFV3	4731	genome.wustl.edu	37	chr21	44317086	44317086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacttgcttctacggtttCtttgtctgcggaatcaggga	7	14	12	8	2	4	0	1	0	3	0	4	3	4	3	0	4	3	2	0	4	2	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr21:44317086C>A	ENST00000340344.4	+	2	164	c.98C>A	c.(97-99)tCt>tAt	p.S33Y	NDUFV3_ENST00000354250.2_Missense_Mutation_p.S33Y|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	33					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		TCTACGGTTTCTTTGTCTGCG	0.403																																																	0													85	84	84					21																	44317086		2203	4300	6503	SO:0001583	missense	0				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.98C>A	21.37:g.44317086C>A	ENSP00000342895:p.Ser33Tyr		A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	NULL	p.S33Y	ENST00000340344.4	37	c.98	CCDS33573.1	21	.	.	.	.	.	.	.	.	.	.	C	9.807	1.182233	0.21787	.	.	ENSG00000160194	ENST00000354250;ENST00000340344;ENST00000398198	.	.	.	5.0	0.912	0.19349	.	0.988865	0.08239	N	0.976403	T	0.49525	0.1562	M	0.61703	1.905	0.09310	N	1	P;P	0.45634	0.688;0.863	B;P	0.50590	0.246;0.645	T	0.40813	-0.9543	9	0.62326	D	0.03	0.4712	7.603	0.28087	0.0:0.593:0.0:0.407	.	33;33	P56181;P56181-2	NDUV3_HUMAN;.	Y	33;33;16	.	ENSP00000342895:S33Y	S	+	2	0	NDUFV3	43190155	0.001000	0.12720	0.001000	0.08648	0.530000	0.34684	-0.229000	0.09098	0.195000	0.20347	0.655000	0.94253	TCT	NDUFV3	-	NULL	ENSG00000160194		0.403	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFV3	HGNC	protein_coding	OTTHUMT00000195448.2	-	0	86	0	C			44317086	1	tier1	-	no_errors	ENST00000354250	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.000	A	A	44317086	C	A	44317086	3	1	168	1	0	0	0	0	1	0	0	0	10340	913	32	3	104	3	NDUFV3	21	44317086	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	3016158	44317086	3812809	282	42470											
KRTAP10-11	386678	genome.wustl.edu	37	chr21	46066427	46066427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gcgcttactccgactcctggCaggtggacgactgcccagag	7	7	13	14	3	0	1	0	0	0	1	2	4	2	2	3	3	2	2	3	3	1	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr21:46066427C>A	ENST00000334670.8	+	1	97	c.52C>A	c.(52-54)Cag>Aag	p.Q18K	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	18						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CGACTCCTGGCAGGTGGACGA	0.682																																																	0													57	62	60					21																	46066427		2199	4290	6489	SO:0001583	missense	0			AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.52C>A	21.37:g.46066427C>A	ENSP00000334197:p.Gln18Lys		A2RRF9	Missense_Mutation	SNP	NULL	p.Q18K	ENST00000334670.8	37	c.52	CCDS42962.1	21	.	.	.	.	.	.	.	.	.	.	c	8.709	0.911493	0.17833	.	.	ENSG00000243489	ENST00000334670	T	0.12672	2.66	3.71	1.61	0.23674	.	.	.	.	.	T	0.17874	0.0429	M	0.84082	2.675	0.19775	N	0.999959	B	0.30914	0.3	B	0.23275	0.045	T	0.11372	-1.0590	9	0.56958	D	0.05	.	9.0371	0.36293	0.0:0.5542:0.4458:0.0	.	18	P60412	KR10B_HUMAN	K	18	ENSP00000334197:Q18K	ENSP00000334197:Q18K	Q	+	1	0	KRTAP10-11	44890855	0.990000	0.36364	0.997000	0.53966	0.092000	0.18411	0.147000	0.16202	0.511000	0.28236	0.462000	0.41574	CAG	KRTAP10-11	-	NULL	ENSG00000243489		0.682	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-11	HGNC	protein_coding	OTTHUMT00000128029.1		0	76	0	C	NM_198692		46066427	1			no_errors	ENST00000334670	ensembl	human	known	74_37	missense	5.80	64	4	SNP	0.936	A	A	46066427	C	A	46066427	3	1	168	1	0	0	0	0	1	0	0	0	8534	711	25	3	54	3	KRTAP10-11	21	46066427	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1749341	46066427	2063468	283	42471											
GGA1	26088	genome.wustl.edu	37	chr22	38020994	38020994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcggagatcctgcaggccaAtgacaacctcacccaggtga	12	5	11	13	1	1	3	1	2	0	1	2	4	2	3	4	3	3	1	4	3	2	0			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr22:38020994A>G	ENST00000343632.4	+	10	1237	c.851A>G	c.(850-852)aAt>aGt	p.N284S	GGA1_ENST00000381756.5_Missense_Mutation_p.N301S|GGA1_ENST00000406772.1_Missense_Mutation_p.N211S|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000337437.4_Missense_Mutation_p.N251S	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	284	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CTGCAGGCCAATGACAACCTC	0.637																																																	0													63	45	51					22																	38020994		2202	4299	6501	SO:0001583	missense	0			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.851A>G	22.37:g.38020994A>G	ENSP00000341344:p.Asn284Ser		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.N284S	ENST00000343632.4	37	c.851	CCDS13951.1	22	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070155	0.55539	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000337437;ENST00000406772	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.0	5.0	0.66597	GAT (2);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	L	0.45228	1.405	0.80722	D	1	D;P	0.89917	1.0;0.725	D;P	0.91635	0.999;0.68	T	0.68746	-0.5327	10	0.29301	T	0.29	-20.7756	14.6785	0.68998	1.0:0.0:0.0:0.0	.	301;284	Q6IC75;Q9UJY5	.;GGA1_HUMAN	S	284;301;251;211	ENSP00000341344:N284S;ENSP00000371175:N301S;ENSP00000338647:N251S;ENSP00000385287:N211S	ENSP00000338647:N251S	N	+	2	0	GGA1	36350940	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.213000	0.65230	1.882000	0.54519	0.397000	0.26171	AAT	GGA1	-	pfam_GAT,pfscan_GAT	ENSG00000100083		0.637	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	-	0	77	0	A	NM_013365		38020994	1	tier1	-	no_errors	ENST00000343632	ensembl	human	known	74_37	missense	24.56	41	14	SNP	1.000	G	G	38020994	A	G	38020994	3	3	168	1	0	0	0	0	1	0	0	0	6378	101	4	4	955	4	GGA1	22	38020994	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09		38020994	13283572	284	42472											
APOBEC3G	60489	genome.wustl.edu	37	chr22	39479862	39479862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacacctgggtcctgctgaaCcagcgcaggggctttctatg	7	9	13	12	1	1	1	0	1	1	0	2	2	2	1	3	3	3	3	3	3	2	2	rs368345672		TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr22:39479862C>T	ENST00000407997.3	+	5	1065	c.708C>T	c.(706-708)aaC>aaT	p.N236N	APOBEC3G_ENST00000452957.2_Silent_p.N236N|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	236	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)					TCCTGCTGAACCAGCGCAGGG	0.572																																																	0													89	74	79					22																	39479862		2203	4300	6503	SO:0001819	synonymous_variant	0			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.708C>T	22.37:g.39479862C>T			B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.N236	ENST00000407997.3	37	c.708	CCDS13984.1	22																																																																																			APOBEC3G	-	pfam_APOBEC_N	ENSG00000239713		0.572	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1		0	55	0	C	NM_021822		39479862	1			no_errors	ENST00000407997	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.000	T	T	39479862	C	T	39479862	2	4	168	1	0	0	0	0	0	0	0	1	794	506	18	3		3	APOBEC3G	22	39479862	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	1458868	39479862	11824704	285	42473											
ENTHD1	150350	genome.wustl.edu	37	chr22	40139936	40139936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacaggacagagggatGaactggtctacattttgggt	12	9	13	7	0	1	3	0	1	1	2	1	5	1	5	1	4	3	0	1	4	3	3			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chr22:40139936G>T	ENST00000325157.6	-	7	1822	c.1572C>A	c.(1570-1572)ttC>ttA	p.F524L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	524										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACAGAGGGATGAACTGGTCTA	0.413																																																	0													63	60	61					22																	40139936		2203	4300	6503	SO:0001583	missense	0			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.1572C>A	22.37:g.40139936G>T	ENSP00000317431:p.Phe524Leu		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.F524L	ENST00000325157.6	37	c.1572	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	G	7.712	0.695265	0.15039	.	.	ENSG00000176177	ENST00000325157	T	0.33865	1.39	5.75	-1.64	0.08318	.	0.590354	0.16851	N	0.196942	T	0.21022	0.0506	L	0.43923	1.385	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.11542	-1.0583	10	0.31617	T	0.26	-4.7155	1.2754	0.02030	0.3416:0.1479:0.3738:0.1368	.	524	Q8IYW4	ENTD1_HUMAN	L	524	ENSP00000317431:F524L	ENSP00000317431:F524L	F	-	3	2	ENTHD1	38469882	0.001000	0.12720	0.000000	0.03702	0.156000	0.22039	0.113000	0.15499	0.079000	0.16929	0.650000	0.86243	TTC	ENTHD1	-	NULL	ENSG00000176177		0.413	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	-	0	41	0	G	NM_152512		40139936	-1	tier1	-	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	T	T	40139936	G	T	40139936	3	4	168	1	0	0	0	0	1	0	0	0	5153	1281	45	3	255	3	ENTHD1	22	40139936	Missense_Mutation	SNP	G	TCGA-VR-A8EX-01A-11D-A36J-09	660074	40139936	11164630	286	42474											
ARL13A	392509	genome.wustl.edu	37	chrX	100241808	100241808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaaacaaacaagacaagaAgaaagccctcatgccttgtg	18	5	8	10	0	1	3	1	0	0	3	1	3	1	3	2	0	5	1	2	0	6	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chrX:100241808A>G	ENST00000450049.2	+	5	517	c.404A>G	c.(403-405)aAg>aGg	p.K135R		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	135					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						CAAGACAAGAAGAAAGCCCTC	0.398																																																	0													87	74	78					X																	100241808		1893	4090	5983	SO:0001583	missense	0				CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	31709	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 13"	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.404A>G	X.37:g.100241808A>G	ENSP00000398637:p.Lys135Arg		B2RTT6|B4DX50	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR	p.K135R	ENST00000450049.2	37	c.404	CCDS55463.1	X	.	.	.	.	.	.	.	.	.	.	A	10.39	1.336778	0.24253	.	.	ENSG00000174225	ENST00000450049;ENST00000372953	D	0.82081	-1.57	4.38	1.69	0.24217	.	0.292116	0.37261	N	0.002177	T	0.73118	0.3546	L	0.39020	1.185	0.19775	N	0.999956	P;B	0.35383	0.498;0.302	B;B	0.40329	0.326;0.229	T	0.62680	-0.6803	10	0.44086	T	0.13	.	3.8526	0.08962	0.5567:0.2235:0.0:0.2198	.	135;135	B2RTT6;Q5H913	.;AR13A_HUMAN	R	135;9	ENSP00000398637:K135R	ENSP00000362044:K9R	K	+	2	0	ARL13A	100128464	0.134000	0.22483	0.656000	0.29637	0.584000	0.36387	0.039000	0.13884	0.595000	0.29777	0.417000	0.27973	AAG	ARL13A	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR	ENSG00000174225		0.398	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ARL13A	HGNC	protein_coding	OTTHUMT00000057504.2	-	0	21	0	A	XM_373358		100241808	1	tier1	-	no_errors	ENST00000450457	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.458	G	G	100241808	A	G	100241808	3	3	168	1	0	0	0	0	1	0	0	0	928	72	3	4	418	4	ARL13A	23	100241808	Missense_Mutation	SNP	A	TCGA-VR-A8EX-01A-11D-A36J-09		100241808	55028752	287	42475											
DCAF12L2	340578	genome.wustl.edu	37	chrX	125298882	125298882	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctctcgagagcacaggggCcggatgttctgctggcgctg	5	8	15	13	3	2	1	0	0	2	1	3	3	2	2	2	4	2	4	2	4	0	1			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chrX:125298882C>A	ENST00000360028.2	-	1	1052	c.1026G>T	c.(1024-1026)cgG>cgT	p.R342R	DCAF12L2_ENST00000538699.1_Silent_p.R342R			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	342										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						AGCACAGGGGCCGGATGTTCT	0.612																																																	0													50	55	53					X																	125298882		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1026G>T	X.37:g.125298882C>A			B2RN42	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R342	ENST00000360028.2	37	c.1026	CCDS43991.1	X																																																																																			DCAF12L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198354		0.612	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	-	0	34	0	C	NM_001013628		125298882	-1	tier1	-	no_errors	ENST00000360028	ensembl	human	known	74_37	silent	18.18	36	8	SNP	0.833	A	A	125298882	C	A	125298882	2	1	168	1	0	0	0	0	0	0	0	1	4274	726	26	3		3	DCAF12L2	23	125298882	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	25057074	125298882	29971678	288	42476											
SPANXC	64663	genome.wustl.edu	37	chrX	140335751	140335751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggtcattcagcagttcctCtggagatgttcttttcacgt	6	16	10	9	1	5	1	3	0	2	1	6	2	6	1	1	2	1	3	1	2	0	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chrX:140335751C>G	ENST00000358993.2	-	2	231	c.193G>C	c.(193-195)Gag>Cag	p.E65Q		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	65						cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					AGCAGTTCCTCTGGAGATGTT	0.468																																																	0													236	174	195					X																	140335751		2141	4142	6283	SO:0001583	missense	0			AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 3"	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.193G>C	X.37:g.140335751C>G	ENSP00000351884:p.Glu65Gln		Q32WL9|Q5JX88	Missense_Mutation	SNP	pfam_SPANX_prot	p.E65Q	ENST00000358993.2	37	c.193	CCDS14673.1	X	.	.	.	.	.	.	.	.	.	.	c	0.505	-0.869351	0.02570	.	.	ENSG00000198573	ENST00000358993	T	0.06933	3.24	.	.	.	.	.	.	.	.	T	0.05090	0.0136	N	0.16478	0.41	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.39165	-0.9627	7	0.45353	T	0.12	.	.	.	.	.	65	Q9NY87	SPNXC_HUMAN	Q	65	ENSP00000351884:E65Q	ENSP00000351884:E65Q	E	-	1	0	SPANXC	140163417	0.021000	0.18746	0.020000	0.16555	0.020000	0.10135	0.064000	0.14437	0.328000	0.23435	0.330000	0.21533	GAG	SPANXC	-	pfam_SPANX_prot	ENSG00000198573		0.468	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXC	HGNC	protein_coding	OTTHUMT00000058590.1	-	0	247	0	C	NM_022661		140335751	-1	tier1	-	no_errors	ENST00000358993	ensembl	human	known	74_37	missense	10.27	297	34	SNP	0.020	G	G	140335751	C	G	140335751	3	3	168	1	0	0	0	0	1	0	0	0	15034	922	32	5	104	5	SPANXC	23	140335751	Missense_Mutation	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	15036869	140335751	14934809	289	42477											
GAB3	139716	genome.wustl.edu	37	chrX	153944371	153944371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccacacctgcatttcttgCtcagttttggccaccaggta	8	12	7	14	0	2	0	1	0	1	0	2	0	2	0	4	2	2	4	4	2	1	5			TCGA-VR-A8EX-01A-11D-A36J-09	TCGA-VR-A8EX-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4bd3b4e5-e2b6-4284-8795-dddc24036dab	ff38463f-abca-4748-8f03-c4eab0947896	g.chrX:153944371C>T	ENST00000369575.3	-	2	337	c.306G>A	c.(304-306)gaG>gaA	p.E102E	GAB3_ENST00000424127.2_Silent_p.E102E|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	102	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					GCATTTCTTGCTCAGTTTTGG	0.517																																																	0													185	157	166					X																	153944371		2203	4300	6503	SO:0001819	synonymous_variant	0			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.306G>A	X.37:g.153944371C>T			A6NHF8|E9PB44	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E102	ENST00000369575.3	37	c.306	CCDS14760.1	X																																																																																			GAB3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000160219		0.517	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	-	0	42	0	C	NM_001081573		153944371	-1	tier1	-	no_errors	ENST00000424127	ensembl	human	known	74_37	silent	73.08	7	19	SNP	0.998	T	T	153944371	C	T	153944371	2	4	168	1	0	0	0	0	0	0	0	1	6174	796	28	3		3	GAB3	23	153944371	Silent	SNP	C	TCGA-VR-A8EX-01A-11D-A36J-09	13608620	153944371	1326189	290	42478											
CDK11B	8510	genome.wustl.edu	37	chr1	1572523	1572523	+	IGR	SNP	T	T	C	0	1	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	ccagttgtcgtgcaggtgttTcaccccacgcagcagctgga	7	9	12	13	2	1	0	1	0	0	0	2	1	1	1	3	2	3	6	3	2	0	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:1572523T>C	ENST00000356026.5	+	0	1326				CDK11B_ENST00000407249.3_Missense_Mutation_p.K541E|CDK11B_ENST00000341832.6_Missense_Mutation_p.K494E|CDK11B_ENST00000340677.5_Missense_Mutation_p.K528E|CDK11B_ENST00000317673.7_Missense_Mutation_p.K539E			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	TGCAGGTGTTTCACCCCACGC	0.652																																																	0													93	112	106					1																	1572523		2153	4276	6429	SO:0001628	intergenic_variant	0				CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7171	protein-coding gene	gene with protein product	"matrix metalloproteinase 22", "femalysin", "matrix metalloproteinase in the female reproductive tract"	603321	"matrix metalloproteinase 23B"	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572523T>C			A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K541E	ENST00000356026.5	37	c.1621	CCDS30559.1	1																																																																																			CDK11B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000248333		0.652	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK11B	HGNC	protein_coding	OTTHUMT00000158492.2		0	63	0	T	NM_006983		1572523	-1			no_errors	ENST00000407249	ensembl	human	known	74_37	missense	8.89	82	8	SNP	1.000	C	C	1572523	T	C	1572523	1	2	169	0	1	0	0	0	0	0	0	0	3134	1792	62	4		4	CDK11B	1	1572523	IGR	SNP	T	TCGA-VR-A8EY-01A-11D-A36J-09		1572523	247678098	1	42479											
CDK11A	728642	genome.wustl.edu	37	chr1	1635742	1635742	+	Missense_Mutation	SNP	T	T	C	0	1	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	ccagttgtcgtgcaggtgttTcaccccccgcagcagctgga	6	9	12	14	2	1	0	1	0	0	0	2	1	1	1	4	2	3	6	4	2	0	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:1635742T>C	ENST00000378633.1	-	15	1694	c.1615A>G	c.(1615-1617)Aaa>Gaa	p.K539E	CDK11A_ENST00000356200.3_Missense_Mutation_p.K502E|CDK11A_ENST00000404249.3_Missense_Mutation_p.K536E|CDK11A_ENST00000358779.5_Missense_Mutation_p.K526E|CDK11A_ENST00000357760.2_Missense_Mutation_p.K535E|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.K502E|CDK11A_ENST00000495016.1_5'UTR			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	539	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TGCAGGTGTTTCACCCCCCGC	0.667																																					Pancreas(186;965 2119 30274 40311 50569)												0													56	63	61					1																	1635742		2023	4169	6192	SO:0001583	missense	0			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.1615A>G	1.37:g.1635742T>C	ENSP00000367900:p.Lys539Glu		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K536E	ENST00000378633.1	37	c.1606		1	.	.	.	.	.	.	.	.	.	.	-	10.78	1.447884	0.26074	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	1.93	1.93	0.25924	.	0.211286	0.49916	D	0.000132	T	0.38108	0.1028	N	0.11673	0.155	0.80722	D	1	B;B;B	0.30211	0.273;0.273;0.0	B;B;B	0.32980	0.156;0.156;0.002	T	0.08911	-1.0699	10	0.25751	T	0.34	.	7.3857	0.26880	0.0:0.0:0.0:1.0	.	536;526;153	Q9UQ88-2;Q9UQ88-4;Q9UQ88-5	.;.;.	E	502;536;535;526;539;502;502	ENSP00000348529:K502E;ENSP00000384442:K536E;ENSP00000350403:K535E;ENSP00000351629:K526E;ENSP00000367900:K539E;ENSP00000367905:K502E	ENSP00000348529:K502E	K	-	1	0	CDK11A	1625602	0.981000	0.34729	0.961000	0.40146	0.893000	0.52053	2.085000	0.41634	0.903000	0.36546	0.336000	0.21669	AAA	CDK11A	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000008128		0.667	CDK11A-005	NOVEL	basic	protein_coding	CDK11A	HGNC	protein_coding	OTTHUMT00000001735.1	-	0	48	0	T	NM_024011		1635742	-1	tier1	-	no_errors	ENST00000404249	ensembl	human	known	74_37	missense	33.96	33	18	SNP	1.000	C	C	1635742	T	C	1635742	3	2	169	1	0	0	0	0	1	0	0	0	3133	1792	62	4	760	4	CDK11A	1	1635742	Missense_Mutation	SNP	T	TCGA-VR-A8EY-01A-11D-A36J-09	63219	1635742	247614879	2	42480											
SERINC2	347735	genome.wustl.edu	37	chr1	31898638	31898638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagtctggttctacttcgGcgtcgtgggctccttcctct	2	14	10	15	3	3	0	0	0	3	0	7	0	5	0	3	3	1	2	3	3	1	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:31898638G>T	ENST00000373709.3	+	5	638	c.488G>T	c.(487-489)gGc>gTc	p.G163V	SERINC2_ENST00000536384.1_Missense_Mutation_p.G167V|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373710.1_Missense_Mutation_p.G172V|SERINC2_ENST00000536859.1_Missense_Mutation_p.G167V	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	163					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)		TTCTACTTCGGCGTCGTGGGC	0.602																																																	0													213	178	190					1																	31898638		2203	4300	6503	SO:0001583	missense	0			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.488G>T	1.37:g.31898638G>T	ENSP00000362813:p.Gly163Val		A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	pfam_TMS_TDE	p.G172V	ENST00000373709.3	37	c.515	CCDS30662.1	1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632828	0.67015	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.54078	0.1836	M	0.90309	3.105	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	0.67027	-0.5774	10	0.87932	D	0	-28.2786	16.2466	0.82448	0.0:0.0:1.0:0.0	.	167;172;163	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	V	172;167;163;167	ENSP00000362814:G172V;ENSP00000444307:G167V;ENSP00000362813:G163V;ENSP00000439048:G167V	ENSP00000362813:G163V	G	+	2	0	SERINC2	31671225	1.000000	0.71417	0.991000	0.47740	0.369000	0.29798	9.547000	0.98100	2.233000	0.73108	0.491000	0.48974	GGC	SERINC2	-	pfam_TMS_TDE	ENSG00000168528		0.602	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC2	HGNC	protein_coding	OTTHUMT00000010680.1		0	23	0	G	NM_018565		31898638	1			no_errors	ENST00000373710	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	31898638	G	T	31898638	3	4	169	1	0	0	0	0	1	0	0	0	14125	1203	42	3	506	3	SERINC2	1	31898638	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	30262896	31898638	217351983	3	42481											
SPOCD1	90853	genome.wustl.edu	37	chr1	32280209	32280209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtcagcaacttggggaggGtctcccacagacaggaggtt	10	7	15	9	0	2	1	1	0	1	1	3	3	2	3	1	6	2	2	1	6	1	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:32280209G>T	ENST00000360482.2	-	2	855	c.726C>A	c.(724-726)gaC>gaA	p.D242E	SPOCD1_ENST00000373648.2_Missense_Mutation_p.D242E|SPOCD1_ENST00000533231.1_Missense_Mutation_p.D242E|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	242					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)		CTTGGGGAGGGTCTCCCACAG	0.617																																																	0													88	88	88					1																	32280209		2203	4300	6503	SO:0001583	missense	0			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.726C>A	1.37:g.32280209G>T	ENSP00000353670:p.Asp242Glu		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.D242E	ENST00000360482.2	37	c.726	CCDS347.1	1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247788	0.22880	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.31769	1.94;1.48;1.93	2.74	0.659	0.17861	.	.	.	.	.	T	0.16938	0.0407	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.21999	-1.0229	9	0.56958	D	0.05	2.527	7.1408	0.25554	0.0:0.0:0.5199:0.4801	.	242;242	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	E	242	ENSP00000353670:D242E;ENSP00000362752:D242E;ENSP00000435851:D242E	ENSP00000353670:D242E	D	-	3	2	SPOCD1	32052796	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.336000	0.19823	0.182000	0.20032	0.609000	0.83330	GAC	SPOCD1	-	NULL	ENSG00000134668		0.617	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1		0	61	0	G	NM_144569		32280209	-1			no_errors	ENST00000360482	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.000	T	T	32280209	G	T	32280209	3	4	169	1	0	0	0	0	1	0	0	0	15125	1252	44	3	2984	3	SPOCD1	1	32280209	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	381571	32280209	216970412	4	42482											
AHCYL1	10768	genome.wustl.edu	37	chr1	110559031	110559031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacgtcaatgattctgttaCcaaacagaagtttgataact	15	12	7	7	1	2	3	1	2	1	1	2	4	2	3	1	0	4	2	1	0	6	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:110559031C>T	ENST00000369799.5	+	8	1215	c.848C>T	c.(847-849)aCc>aTc	p.T283I	AHCYL1_ENST00000393614.4_Missense_Mutation_p.T236I|AHCYL1_ENST00000359172.3_Missense_Mutation_p.T236I	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	283	NAD binding. {ECO:0000250}.				mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		GATTCTGTTACCAAACAGAAG	0.418																																																	0													95	100	99					1																	110559031		2203	4300	6503	SO:0001583	missense	0			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.848C>T	1.37:g.110559031C>T	ENSP00000358814:p.Thr283Ile		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.T283I	ENST00000369799.5	37	c.848	CCDS818.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564897	0.86439	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.82255	-1.59;-1.59;-1.59	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95519	0.8593	10	0.87932	D	0	-21.8475	20.1649	0.98147	0.0:1.0:0.0:0.0	.	283	O43865	SAHH2_HUMAN	I	283;236;236	ENSP00000358814:T283I;ENSP00000352092:T236I;ENSP00000377238:T236I	ENSP00000352092:T236I	T	+	2	0	AHCYL1	110360554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	ACC	AHCYL1	-	pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	ENSG00000168710		0.418	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCYL1	HGNC	protein_coding	OTTHUMT00000032243.1		0	35	0	C			110559031	1			no_errors	ENST00000369799	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	110559031	C	T	110559031	3	4	169	1	0	0	0	0	1	0	0	0	410	507	18	3	878	3	AHCYL1	1	110559031	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	78278822	110559031	138691590	5	42483											
GDAP2	54834	genome.wustl.edu	37	chr1	118455260	118455260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaatgatgaaccgggcaGctagattgaatccttttgtc	10	13	11	7	1	0	5	0	4	0	1	2	5	1	5	2	1	2	2	2	1	4	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:118455260G>T	ENST00000369443.5	-	4	611	c.362C>A	c.(361-363)gCt>gAt	p.A121D	GDAP2_ENST00000369442.3_Missense_Mutation_p.A121D	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	121	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GAACCGGGCAGCTAGATTGAA	0.418																																																	0													141	129	133					1																	118455260		2203	4300	6503	SO:0001583	missense	0			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.362C>A	1.37:g.118455260G>T	ENSP00000358451:p.Ala121Asp		Q96DZ0	Missense_Mutation	SNP	pfam_Macro_dom,superfamily_CRAL-TRIO_dom,smart_Macro_dom,smart_CRAL-TRIO_dom,pfscan_Macro_dom	p.A121D	ENST00000369443.5	37	c.362	CCDS897.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.444016	0.96187	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.21031	2.03;2.03	5.9	5.9	0.94986	Appr-1-p processing (2);	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	L	0.33137	0.985	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.66351	0.929;0.943	T	0.02574	-1.1139	10	0.72032	D	0.01	-20.4335	20.3298	0.98711	0.0:0.0:1.0:0.0	.	121;121	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	D	121	ENSP00000358451:A121D;ENSP00000358450:A121D	ENSP00000358450:A121D	A	-	2	0	GDAP2	118256783	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	9.850000	0.99511	2.810000	0.96702	0.585000	0.79938	GCT	GDAP2	-	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	ENSG00000196505		0.418	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP2	HGNC	protein_coding	OTTHUMT00000033732.2	-	0	35	0	G	NM_017686		118455260	-1	tier1	-	no_errors	ENST00000369443	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	118455260	G	T	118455260	3	4	169	1	0	0	0	0	1	0	0	0	6334	971	34	3	1220	3	GDAP2	1	118455260	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	7896229	118455260	130795361	6	42484											
TCHHL1	126637	genome.wustl.edu	37	chr1	152059329	152059329	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccttttctgttctaacttCctgatcttcacatggtcttt	5	21	4	11	0	5	1	1	1	4	0	7	1	7	1	2	1	1	1	2	1	1	8	rs114173361	byFrequency	TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:152059329C>A	ENST00000368806.1	-	3	893	c.829G>T	c.(829-831)Gaa>Taa	p.E277*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	277							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)			GTTCTAACTTCCTGATCTTCA	0.433																																																	0													214	211	212					1																	152059329		2203	4300	6503	SO:0001587	stop_gained	0				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.829G>T	1.37:g.152059329C>A	ENSP00000357796:p.Glu277*		B2RPK8|Q5VTJ9	Nonsense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.E277*	ENST00000368806.1	37	c.829	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	19.17	3.776385	0.70107	.	.	ENSG00000182898	ENST00000368806	.	.	.	5.49	2.51	0.30379	.	0.729658	0.11792	N	0.529038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.5784	6.7395	0.23428	0.0:0.6793:0.0:0.3207	.	.	.	.	X	277	.	ENSP00000357796:E277X	E	-	1	0	TCHHL1	150325953	0.062000	0.20869	0.008000	0.14137	0.014000	0.08584	0.938000	0.28965	0.229000	0.21039	0.557000	0.71058	GAA	TCHHL1	-	NULL	ENSG00000182898		0.433	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2		0	24	0	C	XM_060104		152059329	-1			no_errors	ENST00000368806	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	0.009	A	A	152059329	C	A	152059329	4	1	169	1	0	0	0	0	0	1	0	0	15748	864	30	3	1889	3	TCHHL1	1	152059329	Nonsense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	33604069	152059329	97191292	7	42485											
NTRK1	4914	genome.wustl.edu	37	chr1	156843511	156843511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggcagccggcaccgtctCtgcgctggctcttcaatggc	5	9	13	14	3	3	0	1	0	2	0	4	0	3	0	2	4	2	4	2	4	1	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:156843511C>G	ENST00000524377.1	+	8	978	c.937C>G	c.(937-939)Ctg>Gtg	p.L313V	NTRK1_ENST00000368196.3_Missense_Mutation_p.L313V|NTRK1_ENST00000392302.2_Missense_Mutation_p.L283V|NTRK1_ENST00000358660.3_Missense_Mutation_p.L313V	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	313	Ig-like C2-type 2.				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)	GGCACCGTCTCTGCGCTGGCT	0.622			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													27	24	25					1																	156843511		2203	4300	6503	SO:0001583	missense	0			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.937C>G	1.37:g.156843511C>G	ENSP00000431418:p.Leu313Val		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.L313V	ENST00000524377.1	37	c.937	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.516938	0.44763	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	6.17	6.17	0.99709	Immunoglobulin-like fold (1);	0.142985	0.32343	N	0.006236	T	0.22627	0.0546	L	0.55103	1.725	0.36634	D	0.876446	P;B;P;B	0.47409	0.824;0.29;0.895;0.116	P;B;B;B	0.47162	0.54;0.082;0.358;0.062	T	0.02539	-1.1144	10	0.72032	D	0.01	.	13.0331	0.58854	0.2479:0.7521:0.0:0.0	.	313;313;313;283	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	V	283;313;313;313	ENSP00000376120:L283V;ENSP00000357179:L313V;ENSP00000431418:L313V;ENSP00000351486:L313V	ENSP00000351486:L313V	L	+	1	2	NTRK1	155110135	0.024000	0.19004	0.975000	0.42487	0.859000	0.49053	0.332000	0.19751	2.941000	0.99782	0.655000	0.94253	CTG	NTRK1	-	NULL	ENSG00000198400		0.622	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	-	0	28	0	C	NM_002529		156843511	1	tier1	-	no_errors	ENST00000524377	ensembl	human	known	74_37	missense	38.78	30	19	SNP	0.725	G	G	156843511	C	G	156843511	3	3	169	1	0	0	0	0	1	0	0	0	10745	912	32	5	1097	5	NTRK1	1	156843511	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	4784182	156843511	92407110	8	42486											
FCRL2	79368	genome.wustl.edu	37	chr1	157746838	157746838	+	Missense_Mutation	SNP	A	A	G	1	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	aattattgaactcaccaaagAtgaccagcaatgaccacagc	17	7	6	11	0	1	4	1	3	0	1	1	4	1	4	3	0	3	1	3	0	5	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:157746838A>G	ENST00000361516.3	-	1	74	c.26T>C	c.(25-27)aTc>aCc	p.I9T	FCRL2_ENST00000392274.3_Missense_Mutation_p.I9T|FCRL2_ENST00000368181.4_Missense_Mutation_p.I9T	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	9					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCACCAAAGATGACCAGCAA	0.473																																																	0													157	139	145					1																	157746838		2203	4300	6503	SO:0001583	missense	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.26T>C	1.37:g.157746838A>G	ENSP00000355157:p.Ile9Thr		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I9T	ENST00000361516.3	37	c.26	CCDS1168.1	1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.107659	0.37242	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181;ENST00000392274	T;T;T	0.22539	2.03;3.42;1.95	4.16	1.6	0.23607	.	0.481892	0.15303	U	0.269529	T	0.13030	0.0316	L	0.44542	1.39	0.21553	N	0.999641	P;P;D;B	0.54047	0.94;0.664;0.964;0.168	P;B;P;B	0.54210	0.505;0.155;0.745;0.213	T	0.04855	-1.0922	10	0.72032	D	0.01	.	6.3708	0.21481	0.5969:0.0:0.0:0.4031	.	9;9;9;9	B4E0W2;B4DVJ9;Q96LA5-5;Q96LA5	.;.;.;FCRL2_HUMAN	T	9	ENSP00000355157:I9T;ENSP00000357163:I9T;ENSP00000376100:I9T	ENSP00000292389:I9T	I	-	2	0	FCRL2	156013462	0.021000	0.18746	0.943000	0.38184	0.973000	0.67179	0.245000	0.18142	0.719000	0.32188	0.523000	0.50628	ATC	FCRL2	-	NULL	ENSG00000132704		0.473	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	-	0	52	0	A	NM_030764		157746838	-1	tier1	-	no_errors	ENST00000361516	ensembl	human	known	74_37	missense	36.25	51	29	SNP	0.838	G	G	157746838	A	G	157746838	3	3	169	1	0	0	0	0	1	0	0	0	5817	333	12	4	1548	4	FCRL2	1	157746838	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	903327	157746838	91503783	9	42487											
MPZL1	9019	genome.wustl.edu	37	chr1	167757103	167757103	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccactccggcggacatcacaGtgacaagattaacaagtcag	14	6	9	12	2	2	2	2	1	0	1	3	3	3	3	2	2	1	0	2	2	3	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:167757103G>T	ENST00000359523.2	+	6	957	c.755G>T	c.(754-756)aGt>aTt	p.S252I	MPZL1_ENST00000403379.3_3'UTR|MPZL1_ENST00000392121.3_Missense_Mutation_p.S102I	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	252					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GGACATCACAGTGACAAGATT	0.453																																																	0													111	102	105					1																	167757103		2203	4300	6503	SO:0001583	missense	0			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.755G>T	1.37:g.167757103G>T	ENSP00000352513:p.Ser252Ile		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0	p.S252I	ENST00000359523.2	37	c.755	CCDS1264.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542871	0.86022	.	.	ENSG00000197965	ENST00000359523;ENST00000392121	D;D	0.99598	-4.65;-6.26	4.58	4.58	0.56647	.	.	.	.	.	D	0.99208	0.9725	L	0.32530	0.975	0.44523	D	0.997474	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	D	0.99548	1.0965	8	0.87932	D	0	.	16.5301	0.84355	0.0:0.0:1.0:0.0	.	102;252	B2REC0;O95297	.;MPZL1_HUMAN	I	252;102	ENSP00000352513:S252I;ENSP00000375968:S102I	ENSP00000352513:S252I	S	+	2	0	MPZL1	166023727	0.997000	0.39634	0.988000	0.46212	0.997000	0.91878	2.811000	0.47986	2.505000	0.84491	0.650000	0.86243	AGT	MPZL1	-	NULL	ENSG00000197965		0.453	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZL1	HGNC	protein_coding	OTTHUMT00000083655.2	-	0	35	0	G	NM_024569		167757103	1	tier1	-	no_errors	ENST00000359523	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.998	T	T	167757103	G	T	167757103	3	4	169	1	0	0	0	0	1	0	0	0	9787	1029	36	3	777	3	MPZL1	1	167757103	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	10010265	167757103	81493518	10	42488											
C1orf129	80133	genome.wustl.edu	37	chr1	170967362	170967362	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctataagctctcagtaGaaggtcctagaaggtcagaa	14	10	9	8	0	3	3	2	0	2	3	6	3	4	3	1	2	1	2	1	2	7	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:170967362G>T	ENST00000367758.3	+	15	1642	c.1543G>T	c.(1543-1545)Gaa>Taa	p.E515*	MROH9_ENST00000367759.4_Nonsense_Mutation_p.E515*	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	515																	GCTCTCAGTAGAAGGTCCTAG	0.388																																																	0													136	123	127					1																	170967362		1828	4077	5905	SO:0001587	stop_gained	0			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.1543G>T	1.37:g.170967362G>T	ENSP00000356732:p.Glu515*		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E515*	ENST00000367758.3	37	c.1543	CCDS41436.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.853077|5.853077	0.97030|0.97030	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000367759;ENST00000367758|ENST00000426136	.|.	.|.	.|.	4.8|4.8	3.86|3.86	0.44501|0.44501	.|.	0.224039|.	0.30820|.	N|.	0.008801|.	.|T	.|0.40247	.|0.1109	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.32903	.|-0.9889	.|3	0.48119|.	T|.	0.1|.	-18.4043|-18.4043	11.2029|11.2029	0.48751|0.48751	0.0:0.1863:0.8137:0.0|0.0:0.1863:0.8137:0.0	.|.	.|.	.|.	.|.	X|I	515|121	.|.	ENSP00000356732:E515X|.	E|R	+|+	1|2	0|0	C1orf129|C1orf129	169233986|169233986	0.996000|0.996000	0.38824|0.38824	0.964000|0.964000	0.40570|0.40570	0.554000|0.554000	0.35429|0.35429	1.836000|1.836000	0.39191|0.39191	1.112000|1.112000	0.41740|0.41740	0.447000|0.447000	0.29281|0.29281	GAA|AGA	MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.388	MROH9-001	KNOWN	basic|CCDS	protein_coding	MROH9	HGNC	protein_coding	OTTHUMT00000099327.1	-	0	71	0	G	NM_025063		170967362	1	tier1	-	no_errors	ENST00000367759	ensembl	human	known	74_37	nonsense	24.69	61	20	SNP	0.999	T	T	170967362	G	T	170967362	4	4	169	1	0	0	0	0	0	1	0	0	2003	943	33	3	1597	3	C1orf129	1	170967362	Nonsense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	3210259	170967362	78283259	11	42489											
FAM5C	339479	genome.wustl.edu	37	chr1	190423839	190423839	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ggcttctgtccacaaaatctGtgtattcctgtgagcgatgg	8	13	11	9	1	2	1	0	1	2	0	4	2	4	1	2	2	1	2	2	2	3	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:190423839G>A	ENST00000367462.3	-	2	413	c.182C>T	c.(181-183)aCa>aTa	p.T61I	BRINP3_ENST00000534846.1_Nonsense_Mutation_p.Q23*	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	61					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)											CACAAAATCTGTGTATTCCTG	0.473																																																	0													91	89	90					1																	190423839		2203	4300	6503	SO:0001583	missense	0			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.182C>T	1.37:g.190423839G>A	ENSP00000356432:p.Thr61Ile		B3KVP1|B7Z260|O95726|Q2M330	Nonsense_Mutation	SNP	smart_MACPF	p.Q23*	ENST00000367462.3	37	c.67	CCDS1373.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.811843|6.811843	0.97857|0.97857	.|.	.|.	ENSG00000162670|ENSG00000162670	ENST00000534846|ENST00000367462;ENST00000445957	.|D;T	.|0.84660	.|-1.88;0.9	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Membrane attack complex component/perforin (MACPF) domain (1);	.|0.062767	.|0.64402	.|D	.|0.000005	.|T	.|0.78898	.|0.4356	L|L	0.31926|0.31926	0.97|0.97	0.80722|0.80722	A|A	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	.|T	.|0.75673	.|-0.3236	.|9	0.51188|0.24483	T|T	0.08|0.36	.|.	16.7242|16.7242	0.85417|0.85417	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|61	.|Q76B58	.|FAM5C_HUMAN	X|I	23|61	.|ENSP00000356432:T61I;ENSP00000393441:T61I	ENSP00000438022:Q23X|ENSP00000356432:T61I	Q|T	-|-	1|2	0|0	FAM5C|FAM5C	188690462|188690462	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.052000|6.052000	0.71080|0.71080	2.540000|2.540000	0.85666|0.85666	0.655000|0.655000	0.94253|0.94253	CAG|ACA	BRINP3	-	smart_MACPF	ENSG00000162670		0.473	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1	-	0	42	0	G	NM_199051		190423839	-1	tier1	-	no_errors	ENST00000534846	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	1.000	A	A	190423839	G	A	190423839	3	1	169	1	0	0	0	0	1	0	0	0	5616	1377	48	3	2146	3	FAM5C	1	190423839	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	19456477	190423839	58826782	12	42490											
LEFTY2	7044	genome.wustl.edu	37	chr1	226128687	226128687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcacgtgggcggggatgaCcagcttctccatgtcggccc	5	8	13	15	3	2	1	1	1	1	0	4	2	2	2	4	4	1	1	4	4	0	1	rs202147285		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:226128687C>T	ENST00000366820.5	-	1	502	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	LEFTY2_ENST00000474493.1_5'Flank|LEFTY2_ENST00000420304.2_Missense_Mutation_p.V52I	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	52					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCGGGGATGACCAGCTTCTCC	0.692																																					Colon(172;116 2643 9098 43333)												0													37	42	40					1																	226128687		2203	4299	6502	SO:0001583	missense	0			U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.154G>A	1.37:g.226128687C>T	ENSP00000355785:p.Val52Ile		B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF	p.V52I	ENST00000366820.5	37	c.154	CCDS1549.1	1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765072	0.69878	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.71461	-0.57;-0.26	5.13	3.26	0.37387	Transforming growth factor-beta, N-terminal (1);	0.240387	0.41938	D	0.000788	T	0.69214	0.3086	M	0.75777	2.31	0.36726	D	0.881478	P;P;P	0.44380	0.457;0.457;0.834	B;B;B	0.41646	0.081;0.081;0.362	T	0.75068	-0.3448	10	0.66056	D	0.02	.	10.1024	0.42513	0.0:0.8407:0.0:0.1593	.	52;52;52	E9PDM4;B4E332;O00292	.;.;LFTY2_HUMAN	I	52	ENSP00000388009:V52I;ENSP00000355785:V52I	ENSP00000355785:V52I	V	-	1	0	LEFTY2	224195310	1.000000	0.71417	0.995000	0.50966	0.391000	0.30476	0.844000	0.27654	0.675000	0.31264	0.561000	0.74099	GTC	LEFTY2	-	pfam_TGF-b_N,pirsf_LRDF,prints_LRDF	ENSG00000143768		0.692	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEFTY2	HGNC	protein_coding	OTTHUMT00000091152.1	-	0	162	0	C	NM_003240		226128687	-1	tier1	rs202147285	no_errors	ENST00000366820	ensembl	human	known	74_37	missense	39.37	174	113	SNP	1.000	T	T	226128687	C	T	226128687	3	4	169	1	0	0	0	0	1	0	0	0	8744	507	18	3	962	3	LEFTY2	1	226128687	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	35704848	226128687	23121934	13	42491											
PLD5	200150	genome.wustl.edu	37	chr1	242264075	242264075	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcattctctctttccagatCaaaaaatttctgtaagaaaa	16	13	4	8	0	4	2	1	0	3	2	6	2	5	2	1	0	1	2	1	0	6	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:242264075C>G	ENST00000536534.2	-	9	1490	c.1249G>C	c.(1249-1251)Gat>Cat	p.D417H	PLD5_ENST00000427495.1_Missense_Mutation_p.D355H|PLD5_ENST00000442594.2_Missense_Mutation_p.D325H			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	417						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTTTCCAGATCAAAAAATTTC	0.373																																																	0													86	82	83					1																	242264075		2203	4300	6503	SO:0001583	missense	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1249G>C	1.37:g.242264075C>G	ENSP00000440896:p.Asp417His		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	smart_PLipase_D/transphosphatidylase	p.D417H	ENST00000536534.2	37	c.1249	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183976	0.57800	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.21543	2.0;2.0;2.0	5.75	4.83	0.62350	.	0.148770	0.64402	D	0.000010	T	0.27933	0.0688	N	0.25647	0.755	0.40794	D	0.983282	P;D;D	0.55800	0.911;0.973;0.967	P;P;P	0.59288	0.66;0.855;0.773	T	0.01118	-1.1446	10	0.45353	T	0.12	-19.2855	13.1794	0.59645	0.0:0.9242:0.0:0.0758	.	325;417;355	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	H	355;325;417	ENSP00000401285:D355H;ENSP00000414188:D325H;ENSP00000440896:D417H	ENSP00000401285:D355H	D	-	1	0	PLD5	240330698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.109000	0.50345	2.723000	0.93209	0.650000	0.86243	GAT	PLD5	-	NULL	ENSG00000180287		0.373	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	-	0	55	0	C	NM_152666		242264075	-1	tier1	-	no_errors	ENST00000536534	ensembl	human	known	74_37	missense	32.67	66	33	SNP	1.000	G	G	242264075	C	G	242264075	3	3	169	1	0	0	0	0	1	0	0	0	12088	826	29	5	369	5	PLD5	1	242264075	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	16135388	242264075	6986546	14	42492											
OR2M3	127062	genome.wustl.edu	37	chr1	248367307	248367307	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagggcaagtctggagagtGagttacctaataaacttcat	15	10	10	6	0	2	2	1	1	1	1	2	3	2	2	1	2	2	2	1	2	6	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr1:248367307G>C	ENST00000456743.1	+	1	976	c.938G>C	c.(937-939)tGa>tCa	p.*313S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, 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)			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)			TCTGGAGAGTGAGTTACCTAA	0.408																																																	0													98	94	96					1																	248367307		2203	4300	6503	SO:0001578	stop_lost	0				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.938G>C	1.37:g.248367307G>C	ENSP00000389625:p.*313Serext*3		B9EH06|Q6IEY0	Nonstop_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.*313S	ENST00000456743.1	37	c.938	CCDS31107.1	1	.	.	.	.	.	.	.	.	.	.	g	0.016	-1.514881	0.00975	.	.	ENSG00000228198	ENST00000456743	.	.	.	2.2	-3.39	0.04868	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9228	0.13878	0.3232:0.1716:0.5052:0.0	.	.	.	.	S	313	.	.	X	+	2	2	OR2M3	246433930	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.016000	0.12613	-0.589000	0.05874	-0.321000	0.08615	TGA	OR2M3	-	NULL	ENSG00000228198		0.408	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M3	HGNC	protein_coding	OTTHUMT00000097355.1	-	0	48	0	G	NM_001004689		248367307	1	tier1	-	no_errors	ENST00000456743	ensembl	human	known	74_37	nonstop	49.58	60	59	SNP	0.000	C	C	248367307	G	C	248367307	4	2	169	1	0	0	0	0	0	0	0	0	11050	1304	45	5	940	5	OR2M3	1	248367307	Nonstop_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	6103232	248367307	883314	15	42493											
WDR35	57539	genome.wustl.edu	37	chr2	20130204	20130204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcatagagctgcctctgtGcaagtataaagaagtggtaa	13	10	10	8	0	2	2	1	0	1	2	2	2	2	2	2	1	3	4	2	1	7	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr2:20130204G>T	ENST00000345530.3	-	26	3222	c.3107C>A	c.(3106-3108)gCa>gAa	p.A1036E	WDR35_ENST00000281405.4_Missense_Mutation_p.A1025E|WDR35_ENST00000416055.2_Missense_Mutation_p.A509E	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1036					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)					CTGCCTCTGTGCAAGTATAAA	0.443																																																	0													181	185	184					2																	20130204		2203	4300	6503	SO:0001583	missense	0			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.3107C>A	2.37:g.20130204G>T	ENSP00000314444:p.Ala1036Glu		B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1036E	ENST00000345530.3	37	c.3107	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053155	0.75960	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055	T;T;D	0.84873	-1.02;-1.02;-1.91	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.93959	0.8066	M	0.90198	3.095	0.39035	D	0.960024	D;D;D	0.89917	1.0;0.998;0.992	D;D;P	0.91635	0.999;0.973;0.856	D	0.95318	0.8418	10	0.72032	D	0.01	-9.6715	18.4109	0.90550	0.0:0.0:1.0:0.0	.	1025;1036;509	Q9P2L0-2;Q9P2L0;B3KR94	.;WDR35_HUMAN;.	E	1036;1025;509	ENSP00000314444:A1036E;ENSP00000281405:A1025E;ENSP00000399159:A509E	ENSP00000281405:A1025E	A	-	2	0	WDR35	19993685	1.000000	0.71417	0.252000	0.24328	0.989000	0.77384	9.784000	0.99039	2.596000	0.87737	0.563000	0.77884	GCA	WDR35	-	pirsf_WD_repeat_p35	ENSG00000118965		0.443	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	-	0	40	0	G	NM_020779		20130204	-1	tier1	-	no_errors	ENST00000345530	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.998	T	T	20130204	G	T	20130204	3	4	169	1	0	0	0	0	1	0	0	0	17338	1319	46	3	450	3	WDR35	2	20130204	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09		20130204	223069169	16	42494											
APOB	338	genome.wustl.edu	37	chr2	21228972	21228972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catttgccatggagagagttCcagggtggctttgcttgtat	7	14	13	7	0	0	1	0	0	0	1	1	3	1	2	2	3	2	4	2	3	1	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr2:21228972C>G	ENST00000233242.1	-	26	10895	c.10768G>C	c.(10768-10770)Gaa>Caa	p.E3590Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3590					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)					GGAGAGAGTTCCAGGGTGGCT	0.507																																																	0													86	78	81					2																	21228972		2203	4300	6503	SO:0001583	missense	0			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.10768G>C	2.37:g.21228972C>G	ENSP00000233242:p.Glu3590Gln		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E3590Q	ENST00000233242.1	37	c.10768	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446882	0.25987	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.73469	-0.75	5.75	4.87	0.63330	.	0.097517	0.44097	D	0.000500	T	0.70996	0.3288	L	0.45581	1.43	0.45490	D	0.998456	B	0.21309	0.054	B	0.24269	0.052	T	0.68599	-0.5366	10	0.62326	D	0.03	.	16.9439	0.86225	0.0:0.8722:0.1278:0.0	.	3590	P04114	APOB_HUMAN	Q	3590	ENSP00000233242:E3590Q	ENSP00000233242:E3590Q	E	-	1	0	APOB	21082477	0.998000	0.40836	0.974000	0.42286	0.525000	0.34531	3.745000	0.55119	1.427000	0.47276	-0.150000	0.13652	GAA	APOB	-	NULL	ENSG00000084674		0.507	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	46	0	C			21228972	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	27.66	68	26	SNP	0.263	G	G	21228972	C	G	21228972	3	3	169	1	0	0	0	0	1	0	0	0	785	864	30	5	2939	5	APOB	2	21228972	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	1098768	21228972	221970401	17	42495											
ADD2	119	genome.wustl.edu	37	chr2	70910897	70910897	+	Silent	SNP	C	C	T	0	0	0	1	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	ccggcactggacagagccgaCacctgtagcaaagagcagag	13	3	13	12	2	0	3	0	0	0	3	0	5	0	4	3	2	3	4	3	2	2	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr2:70910897C>T	ENST00000264436.4	-	10	1395	c.951G>A	c.(949-951)gtG>gtA	p.V317V	ADD2_ENST00000407644.2_Silent_p.V317V|ADD2_ENST00000355733.3_Silent_p.V317V|ADD2_ENST00000413157.2_Silent_p.V317V|ADD2_ENST00000430656.1_Silent_p.V333V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	317					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						ACAGAGCCGACACCTGTAGCA	0.607																																																	0													28	29	29					2																	70910897		2203	4300	6503	SO:0001819	synonymous_variant	0			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.951G>A	2.37:g.70910897C>T			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.V317	ENST00000264436.4	37	c.951	CCDS1906.1	2																																																																																			ADD2	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	ENSG00000075340		0.607	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	-	0	17	0	C	NM_001617		70910897	-1	tier1	-	no_errors	ENST00000264436	ensembl	human	known	74_37	silent	24.32	28	9	SNP	1.000	T	T	70910897	C	T	70910897	2	4	169	1	0	0	0	0	0	0	0	1	305	465	17	3		3	ADD2	2	70910897	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	49681925	70910897	172288476	18	42496											
ARID5A	10865	genome.wustl.edu	37	chr2	97217709	97217709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccaaacctgcagggtccGgcctggtctcctgccttctg	4	9	13	15	1	2	0	0	0	2	0	4	0	3	0	6	4	3	1	6	4	1	1	rs150071690		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr2:97217709G>A	ENST00000357485.3	+	7	1522	c.1444G>A	c.(1444-1446)Ggc>Agc	p.G482S	ARID5A_ENST00000454558.2_Missense_Mutation_p.G414S	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	482					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						TGCAGGGTCCGGCCTGGTCTC	0.662																																																	0								G	SER/GLY	0,4400		0,0,2200	22	25	24		1444	1.2	0	2	dbSNP_134	24	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARID5A	NM_212481.1	56	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	482/595	97217709	1,12999	2200	4300	6500	SO:0001583	missense	0			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.1444G>A	2.37:g.97217709G>A	ENSP00000350078:p.Gly482Ser		Q6NX37	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G482S	ENST00000357485.3	37	c.1444	CCDS33251.1	2	.	.	.	.	.	.	.	.	.	.	G	13.86	2.361989	0.41902	0.0	1.16E-4	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.69806	-0.43	5.31	1.25	0.21368	.	16.324600	0.00166	N	0.000000	T	0.60508	0.2274	M	0.62723	1.935	0.09310	N	1	B;B;B	0.30605	0.287;0.139;0.231	B;B;B	0.21151	0.033;0.015;0.015	T	0.42292	-0.9460	10	0.40728	T	0.16	-8.1764	3.9139	0.09214	0.2924:0.1798:0.5277:0.0	.	482;414;482	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	S	482;482;414	ENSP00000350078:G482S	ENSP00000350078:G482S	G	+	1	0	ARID5A	96581436	0.018000	0.18449	0.001000	0.08648	0.185000	0.23345	0.831000	0.27476	0.726000	0.32339	0.650000	0.86243	GGC	ARID5A	-	NULL	ENSG00000196843		0.662	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5A	HGNC	protein_coding	OTTHUMT00000338888.2	-	0	35	0	G	NM_212481		97217709	1	tier1	rs150071690	no_errors	ENST00000357485	ensembl	human	known	74_37	missense	8.93	101	10	SNP	0.001	A	A	97217709	G	A	97217709	3	1	169	1	0	0	0	0	1	0	0	0	921	1116	39	1	1470	1	ARID5A	2	97217709	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	26306812	97217709	145981664	19	42497											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125262121	125262121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgacagaacgcgtagctGaaatcctcacaggtactgtc	14	8	9	10	2	1	3	1	2	0	1	3	3	2	3	1	1	3	3	1	1	5	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr2:125262121G>A	ENST00000431078.1	+	8	1676	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	438	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACGCGTAGCTGAAATCCTCAC	0.493																																																	0													51	54	53					2																	125262121		1953	4156	6109	SO:0001583	missense	0			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.1312G>A	2.37:g.125262121G>A	ENSP00000399013:p.Glu438Lys		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E438K	ENST00000431078.1	37	c.1312	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198873	0.58126	.	.	ENSG00000155052	ENST00000431078	T	0.79352	-1.26	5.64	5.64	0.86602	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.49305	D	0.000144	T	0.75140	0.3809	L	0.53561	1.675	0.45005	D	0.998022	P	0.48834	0.916	P	0.49085	0.6	T	0.70938	-0.4736	10	0.07325	T	0.83	.	12.0628	0.53572	0.0784:0.0:0.9216:0.0	.	438	Q8WYK1	CNTP5_HUMAN	K	438	ENSP00000399013:E438K	ENSP00000399013:E438K	E	+	1	0	CNTNAP5	124978591	1.000000	0.71417	0.956000	0.39512	0.450000	0.32258	5.997000	0.70646	2.642000	0.89623	0.650000	0.86243	GAA	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	55	0	G			125262121	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	5.38	263	15	SNP	0.978	A	A	125262121	G	A	125262121	3	1	169	1	0	0	0	0	1	0	0	0	3657	1291	45	3	1342	3	CNTNAP5	2	125262121	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	28044412	125262121	117937252	20	42498											
ZEB2	9839	genome.wustl.edu	37	chr2	145157783	145157783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctgatgtgcgaactgtagGaaccagaatgggagaaacgt	13	8	14	6	2	0	3	0	1	0	2	0	6	0	4	1	2	5	2	1	2	5	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr2:145157783G>A	ENST00000558170.2	-	8	2155	c.971C>T	c.(970-972)tCc>tTc	p.S324F	ZEB2_ENST00000409487.3_Missense_Mutation_p.S324F|ZEB2_ENST00000303660.4_Missense_Mutation_p.S324F|ZEB2_ENST00000539609.3_Missense_Mutation_p.S300F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	324					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CGAACTGTAGGAACCAGAATG	0.373																																					Melanoma(33;1235 1264 5755 16332)												0													49	52	51					2																	145157783		2202	4300	6502	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.971C>T	2.37:g.145157783G>A	ENSP00000454157:p.Ser324Phe		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S324F	ENST00000558170.2	37	c.971	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365871	0.61513	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.64	5.64	0.86602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.995;0.995	D;D;D;D	0.91635	0.999;0.998;0.986;0.986	T	0.05022	-1.0911	10	0.87932	D	0	-7.7698	19.7156	0.96119	0.0:0.0:1.0:0.0	.	300;189;323;324	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	F	319;300;324;324;324;324	ENSP00000443792:S300F;ENSP00000302501:S324F;ENSP00000386854:S324F;ENSP00000395496:S324F;ENSP00000376601:S324F	ENSP00000302501:S324F	S	-	2	0	ZEB2	144874253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.658000	0.90341	0.655000	0.94253	TCC	ZEB2	-	smart_Znf_C2H2-like	ENSG00000169554		0.373	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	-	0	61	0	G	NM_014795		145157783	-1	tier1	-	no_errors	ENST00000303660	ensembl	human	known	74_37	missense	65.62	11	21	SNP	1.000	A	A	145157783	G	A	145157783	3	1	169	1	0	0	0	0	1	0	0	0	17672	1174	41	3	2685	3	ZEB2	2	145157783	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	19895662	145157783	98041590	21	42499											
C2orf77	129881	genome.wustl.edu	37	chr2	170510679	170510679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcttcttcctcttgctGctgctgttctacagctttga	4	19	6	12	0	5	1	1	1	4	0	6	1	6	1	1	0	5	5	1	0	1	7			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr2:170510679G>T	ENST00000447353.1	-	6	970	c.865C>A	c.(865-867)Cag>Aag	p.Q289K		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	289																	TCCTCTTGCTGCTGCTGTTCT	0.343																																																	0													97	83	87					2																	170510679		1814	4087	5901	SO:0001583	missense	0			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.865C>A	2.37:g.170510679G>T	ENSP00000391504:p.Gln289Lys		Q6PJF6	Missense_Mutation	SNP	NULL	p.Q289K	ENST00000447353.1	37	c.865	CCDS46445.1	2	.	.	.	.	.	.	.	.	.	.	G	8.172	0.791973	0.16258	.	.	ENSG00000154479	ENST00000447353	T	0.09723	2.95	5.04	3.13	0.36017	.	0.820583	0.11492	N	0.558583	T	0.07954	0.0199	L	0.41356	1.27	0.29046	N	0.884829	P	0.43024	0.798	B	0.42030	0.373	T	0.03945	-1.0990	10	0.06625	T	0.88	.	4.448	0.11607	0.0902:0.1506:0.6048:0.1544	.	289	Q0VFZ6	CB077_HUMAN	K	289	ENSP00000391504:Q289K	ENSP00000391504:Q289K	Q	-	1	0	C2orf77	170218925	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.573000	0.46007	1.256000	0.44068	0.585000	0.79938	CAG	CCDC173	-	NULL	ENSG00000154479		0.343	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC173	HGNC	protein_coding	OTTHUMT00000333954.2		0	30	0	G	NM_001085447		170510679	-1			no_errors	ENST00000447353	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	170510679	G	T	170510679	3	4	169	1	0	0	0	0	1	0	0	0	2201	1328	46	3	809	3	C2orf77	2	170510679	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	25352896	170510679	72688694	22	42500											
NCKAP1	10787	genome.wustl.edu	37	chr2	183847622	183847622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagccagatgatttcatcacGggcaaaggataatgccataa	15	9	9	8	1	2	2	2	1	0	1	2	3	2	3	2	2	2	1	2	2	4	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr2:183847622G>T	ENST00000361354.4	-	12	1507	c.1135C>A	c.(1135-1137)Cgt>Agt	p.R379S	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R385S	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	379					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)			ATTTCATCACGGGCAAAGGAT	0.308																																																	0													43	44	44					2																	183847622		2203	4300	6503	SO:0001583	missense	0			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.1135C>A	2.37:g.183847622G>T	ENSP00000355348:p.Arg379Ser		O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	pfam_Nck-associated_protein-1	p.R385S	ENST00000361354.4	37	c.1153	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176370	0.78564	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.35789	1.29;1.29	5.45	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65957	-0.6042	10	0.52906	T	0.07	-10.1373	14.2997	0.66339	0.0716:0.0:0.9284:0.0	.	379;385	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	S	379;385	ENSP00000355348:R379S;ENSP00000354251:R385S	ENSP00000354251:R385S	R	-	1	0	NCKAP1	183555867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.604000	0.74150	1.302000	0.44855	0.655000	0.94253	CGT	NCKAP1	-	pfam_Nck-associated_protein-1	ENSG00000061676		0.308	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2		0	94	0	G	NM_205842		183847622	-1			no_errors	ENST00000360982	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	183847622	G	T	183847622	3	4	169	1	0	0	0	0	1	0	0	0	10260	1116	39	2	2331	2	NCKAP1	2	183847622	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	13336943	183847622	59351751	23	42501											
AOX1	316	genome.wustl.edu	37	chr2	201488706	201488706	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgatactaacaattgaGgtaatgagttctgtggaatg	12	12	11	6	1	1	3	0	3	1	0	1	4	1	4	1	2	2	3	1	2	5	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr2:201488706G>T	ENST00000374700.2	+	19	2365	c.2124G>T	c.(2122-2124)gaG>gaT	p.E708D	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	708					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)	TAACAATTGAGGTAATGAGTT	0.458																																																	0													141	131	134					2																	201488706		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2124+1G>T	2.37:g.201488706G>T			O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.E708D	ENST00000374700.2	37	c.2124	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	G	18.36	3.605989	0.66445	.	.	ENSG00000138356	ENST00000374700	T	0.47869	0.83	5.21	5.21	0.72293	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (1);	0.148588	0.64402	D	0.000013	T	0.55721	0.1938	M	0.67517	2.055	0.58432	D	0.999999	B	0.32382	0.368	B	0.39119	0.291	T	0.59247	-0.7490	10	0.72032	D	0.01	-21.9059	19.314	0.94204	0.0:0.0:1.0:0.0	.	708	Q06278	ADO_HUMAN	D	708	ENSP00000363832:E708D	ENSP00000363832:E708D	E	+	3	2	AOX1	201196951	1.000000	0.71417	0.998000	0.56505	0.088000	0.18126	8.313000	0.89978	2.873000	0.98535	0.561000	0.74099	GAG	AOX1	-	superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.458	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1		0	26	0	G	NM_001159	Missense_Mutation	201488706	1			no_errors	ENST00000374700	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	201488706	G	T	201488706	5	4	169	1	0	0	0	0	0	0	1	0	729	1014	35	3	2198	3	AOX1	2	201488706	Splice_Site	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	17641084	201488706	41710667	24	42502											
MPP4	58538	genome.wustl.edu	37	chr2	202521061	202521061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaggtgagacttcctgCgacaaaggcgcatgctgcgg	8	7	16	10	3	0	2	0	2	0	1	1	4	1	2	1	4	3	3	1	4	1	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr2:202521061C>T	ENST00000409474.3	-	17	1367	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	MPP4_ENST00000315506.7_Missense_Mutation_p.R343H|MPP4_ENST00000359962.5_Missense_Mutation_p.R387H|MPP4_ENST00000447335.2_Missense_Mutation_p.R380H|MPP4_ENST00000409143.1_Missense_Mutation_p.R329H|MPP4_ENST00000428900.2_Missense_Mutation_p.R363H|MPP4_ENST00000396886.3_Missense_Mutation_p.R312H	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	387					protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						AGACTTCCTGCGACAAAGGCG	0.597																																																	0													20	22	21					2																	202521061		2104	4229	6333	SO:0001583	missense	0			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.1160G>A	2.37:g.202521061C>T	ENSP00000387278:p.Arg387His		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R387H	ENST00000409474.3	37	c.1160	CCDS46491.1	2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994626	0.93167	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.07908	3.15;3.4;3.22;3.36;3.42;3.23	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.98;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D	0.83275	0.995;0.611;0.991;0.991;0.996;0.991;0.988;0.996	T	0.00211	-1.1915	10	0.59425	D	0.04	.	19.0738	0.93151	0.0:1.0:0.0:0.0	.	329;312;363;356;343;380;387;352	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	H	387;343;312;387;352;316;363;329;380	ENSP00000387278:R387H;ENSP00000319363:R343H;ENSP00000353047:R387H;ENSP00000416781:R363H;ENSP00000387293:R329H;ENSP00000406160:R380H	ENSP00000319363:R343H	R	-	2	0	MPP4	202229306	1.000000	0.71417	0.718000	0.30602	0.702000	0.40608	6.830000	0.75319	2.676000	0.91093	0.655000	0.94253	CGC	MPP4	-	NULL	ENSG00000082126		0.597	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPP4	HGNC	protein_coding	OTTHUMT00000335748.2		0	18	0	C			202521061	-1			no_errors	ENST00000359962	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	202521061	C	T	202521061	3	4	169	1	0	0	0	0	1	0	0	0	9774	768	27	1	777	1	MPP4	2	202521061	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	1032355	202521061	40678312	25	42503											
USP37	57695	genome.wustl.edu	37	chr2	219346828	219346828	+	Silent	SNP	T	T	C	0	1	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	ctccaaccaagggtaaaaggTggttttgtattttcagtgca	11	13	10	7	0	1	0	1	0	0	0	2	0	2	0	2	3	2	4	2	3	5	6			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr2:219346828T>C	ENST00000258399.3	-	17	2212	c.1800A>G	c.(1798-1800)ccA>ccG	p.P600P	USP37_ENST00000418019.1_Silent_p.P600P|USP37_ENST00000454775.1_Silent_p.P600P|USP37_ENST00000475553.1_5'UTR|USP37_ENST00000415516.1_Silent_p.P528P	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	600	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)		GGGTAAAAGGTGGTTTTGTAT	0.398																																																	0													169	159	163					2																	219346828		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1800A>G	2.37:g.219346828T>C			A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.P600	ENST00000258399.3	37	c.1800	CCDS2418.1	2																																																																																			USP37	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000135913		0.398	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	-	0	46	0	T	NM_020935		219346828	-1	tier1	-	no_errors	ENST00000258399	ensembl	human	known	74_37	silent	60.87	18	28	SNP	0.376	C	C	219346828	T	C	219346828	2	2	169	1	0	0	0	0	0	0	0	1	17117	1683	59	4		4	USP37	2	219346828	Silent	SNP	T	TCGA-VR-A8EY-01A-11D-A36J-09	16825767	219346828	23852545	26	42504											
KLHL30	377007	genome.wustl.edu	37	chr2	239054439	239054439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcaccaaccacgccagCgcggccctcaatggggagat	9	3	11	18	4	1	1	1	0	0	1	1	2	1	1	6	3	2	1	6	3	2	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr2:239054439C>T	ENST00000409223.1	+	5	1223	c.1116C>T	c.(1114-1116)agC>agT	p.S372S	KLHL30_ENST00000305959.4_Silent_p.S354S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	372										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)		ACCACGCCAGCGCGGCCCTCA	0.652																																																	0													25	33	31					2																	239054439		2042	4179	6221	SO:0001819	synonymous_variant	0				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.1116C>T	2.37:g.239054439C>T			Q6ZUS1	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S372	ENST00000409223.1	37	c.1116	CCDS46555.2	2																																																																																			KLHL30	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000168427		0.652	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1		0	79	0	C	NM_198582		239054439	1			no_errors	ENST00000409223	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.880	T	T	239054439	C	T	239054439	2	4	169	1	0	0	0	0	0	0	0	1	8411	767	27	1		1	KLHL30	2	239054439	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	19707611	239054439	4144934	27	42505											
SCN5A	6331	genome.wustl.edu	37	chr3	38593046	38593046	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggatgatgtccgagagcacaGtgcctgtgggaaacaacaga	13	6	14	8	1	0	3	0	1	0	2	1	6	1	5	2	2	4	1	2	2	2	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr3:38593046G>T	ENST00000333535.4	-	28	4966	c.4817C>A	c.(4816-4818)aCt>aAt	p.T1606N	SCN5A_ENST00000423572.2_Missense_Mutation_p.T1605N|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1552N|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1605N|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1588N|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1588N|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1573N|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1552N|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1552N|SCN5A_ENST00000413689.1_Missense_Mutation_p.T1606N			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1606					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CGAGAGCACAGTGCCTGTGGG	0.597																																																	0													53	57	56					3																	38593046		2203	4300	6503	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4817C>A	3.37:g.38593046G>T	ENSP00000328968:p.Thr1606Asn		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.T1606N	ENST00000333535.4	37	c.4817	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062076	0.36373	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.46;-4.92;-4.92	4.54	4.54	0.55810	Ion transport (1);	0.051893	0.85682	D	0.000000	D	0.97334	0.9128	M	0.75777	2.31	0.46609	D	0.999126	B;B;B;B;B;B	0.28933	0.065;0.22;0.086;0.228;0.039;0.005	B;B;B;B;B;B	0.35770	0.164;0.21;0.191;0.16;0.171;0.012	D	0.97037	0.9754	10	0.87932	D	0	.	11.0403	0.47827	0.0851:0.0:0.9149:0.0	.	1552;1573;1588;1606;1605;1606	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	N	1588;1605;1606;1552;1605;1588;1606;1573;1552;1552	ENSP00000398962:T1588N;ENSP00000398266:T1605N;ENSP00000410257:T1606N;ENSP00000388797:T1552N;ENSP00000397915:T1605N;ENSP00000416634:T1588N;ENSP00000328968:T1606N;ENSP00000399524:T1573N;ENSP00000403355:T1552N;ENSP00000413996:T1552N	ENSP00000328968:T1606N	T	-	2	0	SCN5A	38568050	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	5.024000	0.64090	2.353000	0.79882	0.561000	0.74099	ACT	SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.597	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1		0	41	0	G	NM_198056		38593046	-1			no_errors	ENST00000333535	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.994	T	T	38593046	G	T	38593046	3	4	169	1	0	0	0	0	1	0	0	0	13967	1029	36	3	1237	3	SCN5A	3	38593046	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09		38593046	159429384	28	42506											
CDC25A	993	genome.wustl.edu	37	chr3	48209413	48209413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgggggaagatgccaGggataaagactgatgaagag	13	8	15	5	0	0	5	0	2	0	3	1	7	1	7	2	3	1	0	2	3	4	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr3:48209413G>T	ENST00000302506.3	-	10	1360	c.952C>A	c.(952-954)Ctg>Atg	p.L318M	CDC25A_ENST00000351231.3_Missense_Mutation_p.L278M|CDC25A_ENST00000459900.1_5'UTR	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	318					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)		GAAGATGCCAGGGATAAAGAC	0.443																																																	0													81	76	78					3																	48209413		2203	4300	6503	SO:0001583	missense	0			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.952C>A	3.37:g.48209413G>T	ENSP00000303706:p.Leu318Met		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.L318M	ENST00000302506.3	37	c.952	CCDS2760.1	3	.	.	.	.	.	.	.	.	.	.	G	13.05	2.119954	0.37436	.	.	ENSG00000164045	ENST00000302506;ENST00000351231	T;T	0.24350	1.86;1.86	5.83	0.652	0.17823	.	0.508963	0.19965	N	0.102130	T	0.22360	0.0539	L	0.36672	1.1	0.09310	N	1	B;P	0.36647	0.321;0.563	B;P	0.45538	0.26;0.484	T	0.13683	-1.0500	10	0.41790	T	0.15	.	4.898	0.13760	0.4077:0.0:0.4565:0.1358	.	278;318	P30304-2;P30304	.;MPIP1_HUMAN	M	318;278	ENSP00000303706:L318M;ENSP00000343166:L278M	ENSP00000303706:L318M	L	-	1	2	CDC25A	48184417	0.026000	0.19158	0.002000	0.10522	0.424000	0.31475	-0.199000	0.09491	-0.149000	0.11215	0.555000	0.69702	CTG	CDC25A	-	pfam_MPI_Phosphatase	ENSG00000164045		0.443	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25A	HGNC	protein_coding	OTTHUMT00000257512.2	-	0	65	0	G	NM_001789		48209413	-1	tier1	-	no_errors	ENST00000302506	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.001	T	T	48209413	G	T	48209413	3	4	169	1	0	0	0	0	1	0	0	0	3069	991	35	3	646	3	CDC25A	3	48209413	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	9616367	48209413	149813017	29	42507											
SEMA3F	6405	genome.wustl.edu	37	chr3	50225441	50225441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agtactgccagggttactggCgccatgtgccccccagcccc	6	7	11	17	1	0	0	0	0	0	0	0	0	0	0	7	2	5	2	7	2	2	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr3:50225441C>T	ENST00000002829.3	+	19	2735	c.2251C>T	c.(2251-2253)Cgc>Tgc	p.R751C	SEMA3F_ENST00000413852.1_Missense_Mutation_p.R652C|SEMA3F_ENST00000434342.1_Missense_Mutation_p.R720C	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	751					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)		GGGTTACTGGCGCCATGTGCC	0.697																																																	0													7	8	8					3																	50225441		2155	4238	6393	SO:0001583	missense	0			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.2251C>T	3.37:g.50225441C>T	ENSP00000002829:p.Arg751Cys		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.R751C	ENST00000002829.3	37	c.2251	CCDS2811.1	3	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343219	0.82022	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.52295	0.73;0.67;0.73	5.57	5.57	0.84162	.	0.055009	0.85682	D	0.000000	T	0.56601	0.1996	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.56216	0.719;0.794	T	0.53542	-0.8424	10	0.42905	T	0.14	.	18.3019	0.90167	0.0:1.0:0.0:0.0	.	720;751	C9JQ85;Q13275	.;SEM3F_HUMAN	C	652;751;720	ENSP00000388931:R652C;ENSP00000002829:R751C;ENSP00000409859:R720C	ENSP00000002829:R751C	R	+	1	0	SEMA3F	50200445	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.645000	0.61404	2.613000	0.88420	0.462000	0.41574	CGC	SEMA3F	-	NULL	ENSG00000001617		0.697	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3F	HGNC	protein_coding	OTTHUMT00000345929.1	-	0	16	0	C	NM_004186		50225441	1	tier1	-	no_errors	ENST00000002829	ensembl	human	known	74_37	missense	66.67	4	8	SNP	1.000	T	T	50225441	C	T	50225441	3	4	169	1	0	0	0	0	1	0	0	0	14074	768	27	1	2321	1	SEMA3F	3	50225441	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	2016028	50225441	147796989	30	42508											
FOXP1	27086	genome.wustl.edu	37	chr3	71247378	71247378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgctgctgctgggcgtggGcgaggtcagctgccccgatg	3	8	18	12	3	1	0	1	0	0	0	1	2	1	0	2	3	5	5	2	3	0	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr3:71247378G>A	ENST00000318789.4	-	6	680	c.155C>T	c.(154-156)gCc>gTc	p.A52V	FOXP1_ENST00000468577.1_Missense_Mutation_p.A52V|FOXP1_ENST00000493089.1_Missense_Mutation_p.A52V|FOXP1_ENST00000475937.1_Missense_Mutation_p.A52V|FOXP1_ENST00000484350.1_Missense_Mutation_p.A52V|FOXP1_ENST00000498215.1_Missense_Mutation_p.A52V|FOXP1_ENST00000318779.3_Missense_Mutation_p.A52V	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	52					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTGGGCGTGGGCGAGGTCAGC	0.622			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													50	55	53					3																	71247378		2203	4300	6503	SO:0001583	missense	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.155C>T	3.37:g.71247378G>A	ENSP00000318902:p.Ala52Val		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.A52V	ENST00000318789.4	37	c.155	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.262418	0.95368	.	.	ENSG00000114861	ENST00000318789;ENST00000475937;ENST00000339693;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000318779	D;D;D;D;D;D;T	0.88975	-2.45;-2.45;-2.45;-2.45;-2.38;-2.25;0.78	5.65	5.65	0.86999	.	0.248242	0.40818	N	0.001003	D	0.85048	0.5608	N	0.25647	0.755	0.34865	D	0.742987	D;B;B;B;B	0.55605	0.972;0.013;0.001;0.002;0.001	P;B;B;B;B	0.48840	0.592;0.008;0.005;0.002;0.002	T	0.81936	-0.0705	10	0.02654	T	1	.	20.0781	0.97751	0.0:0.0:1.0:0.0	.	52;52;52;52;52	Q9BSG9;A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;.;FOXP1_HUMAN	V	52	ENSP00000318902:A52V;ENSP00000419393:A52V;ENSP00000418524:A52V;ENSP00000418102:A52V;ENSP00000417857:A52V;ENSP00000418883:A52V;ENSP00000318721:A52V	ENSP00000318721:A52V	A	-	2	0	FOXP1	71330068	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	5.351000	0.66022	2.817000	0.96982	0.563000	0.77884	GCC	FOXP1	-	NULL	ENSG00000114861		0.622	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1		0	88	0	G	NM_032682		71247378	-1			no_errors	ENST00000318789	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	71247378	G	A	71247378	3	1	169	1	0	0	0	0	1	0	0	0	6050	1203	42	3	2111	3	FOXP1	3	71247378	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	21021937	71247378	126775052	31	42509											
CNTN3	5067	genome.wustl.edu	37	chr3	74313560	74313560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagttaatatcaccacaGgacatatacaattaagaaca	20	8	6	7	0	1	1	1	0	0	1	1	3	1	3	1	2	2	1	1	2	8	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr3:74313560G>T	ENST00000263665.6	-	22	3106	c.3079C>A	c.(3079-3081)Ctg>Atg	p.L1027M	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	1027					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)		TATCACCACAGGACATATACA	0.338																																																	0													100	93	95					3																	74313560		2203	4299	6502	SO:0001583	missense	0			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.3079C>A	3.37:g.74313560G>T	ENSP00000263665:p.Leu1027Met		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L1027M	ENST00000263665.6	37	c.3079	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110560	0.37242	.	.	ENSG00000113805	ENST00000263665	T	0.60548	0.18	4.99	0.455	0.16649	.	0.547984	0.17089	N	0.187475	T	0.45816	0.1361	N	0.14661	0.345	0.19945	N	0.999942	D	0.60575	0.988	P	0.54664	0.758	T	0.33292	-0.9874	10	0.56958	D	0.05	.	5.1253	0.14880	0.4425:0.199:0.3585:0.0	.	1027	Q9P232	CNTN3_HUMAN	M	1027	ENSP00000263665:L1027M	ENSP00000263665:L1027M	L	-	1	2	CNTN3	74396250	0.185000	0.23213	0.986000	0.45419	0.500000	0.33767	0.025000	0.13577	0.079000	0.16929	0.650000	0.86243	CTG	CNTN3	-	NULL	ENSG00000113805		0.338	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0	73	0	G	NM_020872		74313560	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	missense	54.05	17	20	SNP	0.344	T	T	74313560	G	T	74313560	3	4	169	1	0	0	0	0	1	0	0	0	3649	991	35	3	11	3	CNTN3	3	74313560	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	3066182	74313560	123708870	32	42510											
EPHA3	2042	genome.wustl.edu	37	chr3	89462365	89462365	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cccaagctgttcatgagtttGccaaggaattggatgccacc	10	10	10	11	0	1	1	1	1	0	0	1	3	1	3	4	2	3	3	4	2	3	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr3:89462365G>T	ENST00000336596.2	+	10	2062	c.1837G>T	c.(1837-1839)Gcc>Tcc	p.A613S	EPHA3_ENST00000494014.1_Missense_Mutation_p.A613S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	613					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)		TCATGAGTTTGCCAAGGAATT	0.433										TSP Lung(6;0.00050)																																							0													176	156	163					3																	89462365		2203	4299	6502	SO:0001583	missense	0			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.1837G>T	3.37:g.89462365G>T	ENSP00000337451:p.Ala613Ser		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.A613S	ENST00000336596.2	37	c.1837	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.370123	0.95900	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.23552	1.9;1.9	5.95	5.95	0.96441	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.93638	3.44	0.80722	D	1	D	0.54964	0.969	D	0.71656	0.974	T	0.72124	-0.4385	9	.	.	.	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	613	P29320	EPHA3_HUMAN	S	613	ENSP00000337451:A613S;ENSP00000419190:A613S	.	A	+	1	0	EPHA3	89545055	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.914000	0.87478	2.821000	0.97095	0.650000	0.86243	GCC	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom	ENSG00000044524		0.433	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	-	0	88	0	G	NM_005233		89462365	1	tier1	-	no_errors	ENST00000336596	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	89462365	G	T	89462365	3	4	169	1	0	0	0	0	1	0	0	0	5184	1319	46	3	1901	3	EPHA3	3	89462365	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	15148805	89462365	108560065	33	42511											
SI	6476	genome.wustl.edu	37	chr3	164709256	164709256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattgtcctctgacgccaaTatctttgccctggaaatgaa	12	12	7	10	1	2	2	0	2	2	0	3	3	3	3	3	1	1	0	3	1	5	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr3:164709256T>C	ENST00000264382.3	-	44	5055	c.4993A>G	c.(4993-4995)Att>Gtt	p.I1665V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1665	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTGACGCCAATATCTTTGCCC	0.403										HNSCC(35;0.089)																																							0													97	88	91					3																	164709256		2203	4300	6503	SO:0001583	missense	0			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.4993A>G	3.37:g.164709256T>C	ENSP00000264382:p.Ile1665Val		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.I1665V	ENST00000264382.3	37	c.4993	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	T	4.750	0.139472	0.09083	.	.	ENSG00000090402	ENST00000264382	D	0.90563	-2.69	4.78	4.78	0.61160	.	0.066704	0.64402	D	0.000003	T	0.81772	0.4893	N	0.14661	0.345	0.35037	D	0.759364	B	0.11235	0.004	B	0.13407	0.009	T	0.79895	-0.1610	10	0.18710	T	0.47	.	14.1377	0.65297	0.0:0.0:0.0:1.0	.	1665	P14410	SUIS_HUMAN	V	1665	ENSP00000264382:I1665V	ENSP00000264382:I1665V	I	-	1	0	SI	166191950	0.971000	0.33674	0.344000	0.25628	0.018000	0.09664	0.793000	0.26944	2.003000	0.58678	0.383000	0.25322	ATT	SI	-	pfam_Glyco_hydro_31	ENSG00000090402		0.403	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	63	0	T	NM_001041		164709256	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	31.73	71	33	SNP	0.915	C	C	164709256	T	C	164709256	3	2	169	1	0	0	0	0	1	0	0	0	14342	1406	49	4	510	4	SI	3	164709256	Missense_Mutation	SNP	T	TCGA-VR-A8EY-01A-11D-A36J-09	75246891	164709256	33313174	34	42512											
TLL1	7092	genome.wustl.edu	37	chr4	166915583	166915583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtacctctacaattctcaGggcaaaatgagaaaaatcga	18	8	7	8	1	2	1	1	1	2	1	4	3	2	1	1	1	2	2	1	1	8	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr4:166915583G>T	ENST00000061240.2	+	4	1059	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	TLL1_ENST00000513213.1_Missense_Mutation_p.G138W|TLL1_ENST00000507499.1_Missense_Mutation_p.G138W	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	138					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)		ACAATTCTCAGGGCAAAATGA	0.423																																																	0													76	73	74					4																	166915583		2203	4300	6503	SO:0001583	missense	0			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.412G>T	4.37:g.166915583G>T	ENSP00000061240:p.Gly138Trp		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.G138W	ENST00000061240.2	37	c.412	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451763	0.26074	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	T;T;T;T	0.78707	0.35;0.27;0.21;-1.2	5.4	4.5	0.54988	.	0.494420	0.21022	U	0.081485	T	0.63674	0.2531	N	0.14661	0.345	0.37912	D	0.931406	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.003	T	0.65278	-0.6207	10	0.62326	D	0.03	.	13.9478	0.64096	0.0:0.1516:0.8484:0.0	.	138;138	E9PD25;O43897	.;TLL1_HUMAN	W	138;138;138;38	ENSP00000061240:G138W;ENSP00000426082:G138W;ENSP00000422937:G138W;ENSP00000423748:G38W	ENSP00000061240:G138W	G	+	1	0	TLL1	167135033	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	6.149000	0.71795	2.522000	0.85027	0.655000	0.94253	GGG	TLL1	-	pirsf_BMP_1/tolloid-like	ENSG00000038295		0.423	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1		0	61	0	G			166915583	1			no_errors	ENST00000061240	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	166915583	G	T	166915583	3	4	169	1	0	0	0	0	1	0	0	0	15992	1000	35	3	426	3	TLL1	4	166915583	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09		166915583	24238693	35	42513											
ADAM29	11086	genome.wustl.edu	37	chr4	175896998	175896998	+	Frame_Shift_Del	DEL	G	G	-																															actatcatggttatgtggaaGgggacccagaatccctggtt																										TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr4:175896998delG	ENST00000359240.3	+	5	992	c.322delG	c.(322-324)gggfs	p.G108fs	ADAM29_ENST00000445694.1_Frame_Shift_Del_p.G108fs|ADAM29_ENST00000404450.4_Frame_Shift_Del_p.G108fs|ADAM29_ENST00000514159.1_Frame_Shift_Del_p.G108fs|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	108					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)		TTATGTGGAAGGGGACCCAGA	0.453																																					Ovarian(140;1727 1835 21805 25838 41440)												0													61	63	62					4																	175896998		2203	4300	6503	SO:0001589	frameshift_variant	0			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.322delG	4.37:g.175896998delG	ENSP00000352177:p.Gly108fs		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Frame_Shift_Del	DEL	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D109fs	ENST00000359240.3	37	c.322	CCDS3823.1	4																																																																																			ADAM29	-	pfam_Peptidase_M12B_N	ENSG00000168594		0.453	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding			0	62	0	G			175896998	1	tier1		no_errors	ENST00000359240	ensembl	human	known	74_37	frame_shift_del	35.71	45	25	DEL	1.000	-	-	175896998	G	-	175896998	7	5	169	1	0	1	0	1	0	0	0	0	247	1000	35	0	324	0	ADAM29	4	175896998	Frame_Shift_Del	DEL	G	TCGA-VR-A8EY-01A-11D-A36J-09	8981415	175896998	15257278	36	42514	149	2									
ADAM29	11086	genome.wustl.edu	37	chr4	175897002	175897002	+	Missense_Mutation	SNP	A	A	T																															tcatggttatgtggaaggggAcccagaatccctggtttccc																										TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr4:175897002A>T	ENST00000359240.3	+	5	996	c.326A>T	c.(325-327)gAc>gTc	p.D109V	ADAM29_ENST00000445694.1_Missense_Mutation_p.D109V|ADAM29_ENST00000404450.4_Missense_Mutation_p.D109V|ADAM29_ENST00000514159.1_Missense_Mutation_p.D109V|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	109					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)		GTGGAAGGGGACCCAGAATCC	0.448																																					Ovarian(140;1727 1835 21805 25838 41440)												0													62	64	63					4																	175897002		2203	4300	6503	SO:0001583	missense	0			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.326A>T	4.37:g.175897002A>T	ENSP00000352177:p.Asp109Val		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D109V	ENST00000359240.3	37	c.326	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	A	14.19	2.460599	0.43736	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	4.43	3.12	0.35913	Peptidase M12B, propeptide (1);	0.426339	0.16994	U	0.191167	T	0.07413	0.0187	N	0.04373	-0.215	0.41973	D	0.990762	D	0.89917	1.0	D	0.85130	0.997	T	0.49854	-0.8895	9	.	.	.	.	7.3834	0.26868	0.777:0.223:0.0:0.0	.	109	Q9UKF5	ADA29_HUMAN	V	109	ENSP00000352177:D109V;ENSP00000414544:D109V;ENSP00000384229:D109V;ENSP00000423517:D109V	.	D	+	2	0	ADAM29	176133577	0.000000	0.05858	0.973000	0.42090	0.927000	0.56198	0.095000	0.15127	1.936000	0.56123	0.519000	0.50382	GAC	ADAM29	-	pfam_Peptidase_M12B_N	ENSG00000168594		0.448	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		-	0	61	0	A			175897002	1	tier1	-	no_errors	ENST00000359240	ensembl	human	known	74_37	missense	36.76	43	25	SNP	0.981	T	T	175897002	A	T	175897002	3	4	169	1	0	0	0	0	1	0	0	0	247	275	10	5	328	5	ADAM29	4	175897002	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	4	175897002	15257274	37	42515	149	2									
UFSP2	55325	genome.wustl.edu	37	chr4	186324742	186324742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taatctcattccatgcaactCctagtattgtgtgggccaaa	11	13	7	10	0	1	0	1	0	1	0	4	0	3	0	3	1	2	2	3	1	5	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr4:186324742C>T	ENST00000264689.6	-	11	1345	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	410						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)		CCATGCAACTCCTAGTATTGT	0.368																																																	0													102	96	98					4																	186324742		2203	4300	6503	SO:0001583	missense	0			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.1229G>A	4.37:g.186324742C>T	ENSP00000264689:p.Gly410Glu		Q6IA77|Q96FS3	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2	p.G410E	ENST00000264689.6	37	c.1229	CCDS3842.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.970047|4.970047	0.92855|0.92855	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000509180|ENST00000264689	.|T	.|0.63096	.|-0.02	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.096709	.|0.64402	.|D	.|0.000001	D|D	0.87489|0.87489	0.6190|0.6190	H|H	0.97390|0.97390	3.995|3.995	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.993;1.0	.|D;D	.|0.75020	.|0.96;0.985	D|D	0.91055|0.91055	0.4881|0.4881	5|10	.|0.87932	.|D	.|0	-9.5406|-9.5406	20.3285|20.3285	0.98709|0.98709	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|410;310	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	K|E	139|410	.|ENSP00000264689:G410E	.|ENSP00000264689:G410E	E|G	-|-	1|2	0|0	UFSP2|UFSP2	186561736|186561736	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	7.478000|7.478000	0.81082|0.81082	2.800000|2.800000	0.96347|0.96347	0.655000|0.655000	0.94253|0.94253	GAG|GGA	UFSP2	-	pfam_Peptidase_C78_UfSP1/2	ENSG00000109775		0.368	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFSP2	HGNC	protein_coding	OTTHUMT00000360589.2	-	0	55	0	C	NM_018359		186324742	-1	tier1	-	no_errors	ENST00000264689	ensembl	human	known	74_37	missense	40.32	37	25	SNP	1.000	T	T	186324742	C	T	186324742	3	4	169	1	0	0	0	0	1	0	0	0	16987	855	30	3	188	3	UFSP2	4	186324742	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	10427740	186324742	4829534	38	42516											
KIAA0947	23379	genome.wustl.edu	37	chr5	5447558	5447558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggctgctgtcaagcaaaCtcaggacttcaagcaactga	14	7	10	10	0	3	2	3	1	0	1	3	3	3	3	0	2	5	4	0	2	4	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr5:5447558C>T	ENST00000296564.7	+	8	665	c.443C>T	c.(442-444)aCt>aTt	p.T148I	KIAA0947_ENST00000512608.1_3'UTR	NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		148					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						GTCAAGCAAACTCAGGACTTC	0.328																																																	0													30	27	28					5																	5447558		1794	4014	5808	SO:0001583	missense	0																														ENST00000296564.7:c.443C>T	5.37:g.5447558C>T	ENSP00000296564:p.Thr148Ile		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.T148I	ENST00000296564.7	37	c.443	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535372	0.64972	.	.	ENSG00000164151	ENST00000296564	T	0.11277	2.79	5.87	3.75	0.43078	.	0.628969	0.14660	N	0.306015	T	0.08758	0.0217	L	0.29908	0.895	0.23816	N	0.996761	B	0.26483	0.15	B	0.26693	0.072	T	0.28073	-1.0055	10	0.56958	D	0.05	-11.094	7.8145	0.29252	0.0:0.7736:0.0:0.2264	.	148	Q9Y2F5	K0947_HUMAN	I	148	ENSP00000296564:T148I	ENSP00000296564:T148I	T	+	2	0	KIAA0947	5500558	0.271000	0.24162	0.995000	0.50966	0.998000	0.95712	0.031000	0.13710	0.722000	0.32252	0.655000	0.94253	ACT	KIAA0947	-	NULL	ENSG00000164151		0.328	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0	71	0	C			5447558	1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	21.47	128	35	SNP	0.966	T	T	5447558	C	T	5447558	3	4	169	1	0	0	0	0	1	0	0	0	8229	565	20	3	473	3	KIAA0947	5	5447558	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09		5447558	175467702	39	42517											
CDH6	1004	genome.wustl.edu	37	chr5	31305356	31305356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttatgttgagccacgatttCtctacttggggcctttcaaa	8	15	8	10	1	2	1	1	1	1	0	3	2	2	1	2	2	2	1	2	2	3	6			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr5:31305356C>G	ENST00000265071.2	+	7	1340	c.1075C>G	c.(1075-1077)Ctc>Gtc	p.L359V	CDH6_ENST00000514738.1_Missense_Mutation_p.L304V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	359	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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCACGATTTCTCTACTTGGG	0.458																																																	0													87	86	86					5																	31305356		2203	4300	6503	SO:0001583	missense	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1075C>G	5.37:g.31305356C>G	ENSP00000265071:p.Leu359Val		A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L359V	ENST00000265071.2	37	c.1075	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613592	0.46631	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.58060	0.49;0.36	5.88	5.88	0.94601	Cadherin (3);Cadherin-like (1);	0.271390	0.36482	N	0.002578	T	0.48995	0.1531	L	0.33668	1.02	0.40426	D	0.979892	B;P	0.36959	0.372;0.575	B;B	0.38921	0.285;0.187	T	0.46610	-0.9179	10	0.44086	T	0.13	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	359;359	P55285;P55285-2	CADH6_HUMAN;.	V	304;359	ENSP00000424843:L304V;ENSP00000265071:L359V	ENSP00000265071:L359V	L	+	1	0	CDH6	31341113	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.255000	0.32909	2.780000	0.95670	0.655000	0.94253	CTC	CDH6	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113361		0.458	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	-	0	84	0	C	NM_004932		31305356	1	tier1	-	no_errors	ENST00000265071	ensembl	human	known	74_37	missense	7.00	225	17	SNP	1.000	G	G	31305356	C	G	31305356	3	3	169	1	0	0	0	0	1	0	0	0	3121	913	32	5	1097	5	CDH6	5	31305356	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	25857798	31305356	149609904	40	42518											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33561131	33561131	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccaagcctgataagttaCcttgctccagtttcccactt	8	13	6	14	0	0	1	0	1	0	0	2	1	2	1	5	0	4	3	5	0	3	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr5:33561131C>T	ENST00000504830.1	-	20	4461		c.e20+1		ADAMTS12_ENST00000352040.3_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						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						TGATAAGTTACCTTGCTCCAG	0.483										HNSCC(64;0.19)																																							0													142	137	138					5																	33561131		2203	4300	6503	SO:0001630	splice_region_variant	0			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.4125+1G>A	5.37:g.33561131C>T			A2RRN9|A5D6V6|Q6UWL3	Splice_Site	SNP	-	e20+1	ENST00000504830.1	37	c.4125+1	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923508	0.92319	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1883	0.93653	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS12	33596888	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.257000	0.78362	2.630000	0.89119	0.650000	0.86243	.	ADAMTS12	-	-	ENSG00000151388		0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	-	0	120	0	C	NM_030955	Intron	33561131	-1	tier1	-	no_errors	ENST00000504830	ensembl	human	known	74_37	splice_site	62.35	95	159	SNP	1.000	T	T	33561131	C	T	33561131	5	4	169	1	0	0	0	0	0	0	1	0	257	521	18	3	678	3	ADAMTS12	5	33561131	Splice_Site	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	2255775	33561131	147354129	41	42519											
NIPBL	25836	genome.wustl.edu	37	chr5	37064103	37064103	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcggaggaggagtcaacGtatttcgcagcgtattacgt	10	9	15	7	5	1	0	1	0	0	0	2	4	1	3	0	4	3	3	0	4	4	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr5:37064103G>T	ENST00000282516.8	+	46	8548				NIPBL_ENST00000448238.2_Missense_Mutation_p.R2691L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGAGTCAACGTATTTCGCAG	0.388																																																	0													199	216	210					5																	37064103		2203	4300	6503	SO:0001627	intron_variant	0			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.8049+23G>T	5.37:g.37064103G>T			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R2691L	ENST00000282516.8	37	c.8072	CCDS3920.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.32|11.32	1.603887|1.603887	0.28534|0.28534	.|.	.|.	ENSG00000164190|ENSG00000164190	ENST00000448238|ENST00000507919	D|.	0.94966|.	-3.57|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|.	.|.	.|.	.|.	T|T	0.30916|0.30916	0.0780|0.0780	N|N	0.08118|0.08118	0|0	0.29929|0.29929	N|N	0.822099|0.822099	P|.	0.38992|.	0.653|.	B|.	0.33620|.	0.167|.	T|T	0.19451|0.19451	-1.0305|-1.0305	8|5	.|.	.|.	.|.	.|.	17.5743|17.5743	0.87944|0.87944	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2691|.	Q6KC79-2|.	.|.	L|L	2691|197	ENSP00000406266:R2691L|.	.|.	R|V	+|+	2|1	0|0	NIPBL|NIPBL	37099860|37099860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.241000|5.241000	0.65384|0.65384	2.583000|2.583000	0.87209|0.87209	0.591000|0.591000	0.81541|0.81541	CGT|GTA	NIPBL	-	NULL	ENSG00000164190		0.388	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0	54	0	G	NM_015384		37064103	1	tier1	-	no_errors	ENST00000448238	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	37064103	G	T	37064103	1	4	169	0	1	0	0	0	0	0	0	0	10467	1145	40	2		2	NIPBL	5	37064103	Intron	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	3502972	37064103	143851157	42	42520											
TNPO1	3842	genome.wustl.edu	37	chr5	72201229	72201229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgtcttgcagctttttatGgtgtttaatctaatacactt	9	18	7	7	1	2	0	0	0	2	0	2	0	2	0	0	1	4	3	0	1	4	9			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr5:72201229G>T	ENST00000337273.5	+	24	3115	c.2689G>T	c.(2689-2691)Ggt>Tgt	p.G897C	TNPO1_ENST00000506351.2_Missense_Mutation_p.G889C|TNPO1_ENST00000454282.1_Missense_Mutation_p.G847C|TNPO1_ENST00000523768.1_Missense_Mutation_p.G847C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	897					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)		AGCTTTTTATGGTGTTTAATC	0.373																																																	0													79	82	81					5																	72201229		2203	4300	6503	SO:0001583	missense	0			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.2689G>T	5.37:g.72201229G>T	ENSP00000336712:p.Gly897Cys		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.G897C	ENST00000337273.5	37	c.2689	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831521	0.91036	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.21543	2.02;2.0;2.0;2.01	5.52	5.52	0.82312	Armadillo-like helical (1);	0.098040	0.64402	D	0.000001	T	0.51924	0.1703	M	0.83012	2.62	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.68621	0.959;0.891	T	0.57021	-0.7882	10	0.87932	D	0	-20.1671	19.5112	0.95142	0.0:0.0:1.0:0.0	.	847;897	Q92973-3;Q92973	.;TNPO1_HUMAN	C	897;847;847;889	ENSP00000336712:G897C;ENSP00000398524:G847C;ENSP00000428899:G847C;ENSP00000425118:G889C	ENSP00000336712:G897C	G	+	1	0	TNPO1	72236985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.632000	0.89209	0.644000	0.83932	GGT	TNPO1	-	NULL	ENSG00000083312		0.373	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	-	0	102	0	G	NM_002270		72201229	1	tier1	-	no_errors	ENST00000337273	ensembl	human	known	74_37	missense	38.14	60	37	SNP	1.000	T	T	72201229	G	T	72201229	3	4	169	1	0	0	0	0	1	0	0	0	16382	1348	47	3	2783	3	TNPO1	5	72201229	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	35137126	72201229	108714031	43	42521											
NUDT12	83594	genome.wustl.edu	37	chr5	102895755	102895755	+	Frame_Shift_Del	DEL	C	C	-																															aatgtttaccctttctcaagCagaaattggactatctctgg																										TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr5:102895755delC	ENST00000230792.2	-	2	291	c.195delG	c.(193-195)ctgfs	p.L66fs	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	66					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)		CTTTCTCAAGCAGAAATTGGA	0.373																																																	0													111	106	108					5																	102895755		2202	4300	6502	SO:0001589	frameshift_variant	0			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.195delG	5.37:g.102895755delC	ENSP00000230792:p.Leu66fs		B3KUW2|Q8TAL7	Frame_Shift_Del	DEL	pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E67fs	ENST00000230792.2	37	c.195	CCDS4096.1	5																																																																																			NUDT12	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000112874		0.373	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT12	HGNC	protein_coding	OTTHUMT00000250650.1		0	72	0	C	NM_031438		102895755	-1	tier1		no_errors	ENST00000230792	ensembl	human	known	74_37	frame_shift_del	41.23	67	47	DEL	0.997	-	-	102895755	C	-	102895755	7	5	169	1	0	1	0	1	0	0	0	0	10767	697	25	0	1217	0	NUDT12	5	102895755	Frame_Shift_Del	DEL	C	TCGA-VR-A8EY-01A-11D-A36J-09	30694526	102895755	78019505	44	42522											
FBN2	2201	genome.wustl.edu	37	chr5	127611766	127611766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctcttgcaggacataccCcctcggacatgaacactgat	11	9	7	14	1	1	2	0	2	1	0	3	4	2	4	3	2	3	1	3	2	2	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr5:127611766C>T	ENST00000508053.1	-	65	8532	c.7558G>A	c.(7558-7560)Ggg>Agg	p.G2520R	FBN2_ENST00000262464.4_Missense_Mutation_p.G2520R			P35556	FBN2_HUMAN	fibrillin 2	2520	EGF-like 42; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGACATACCCCCTCGGACAT	0.433																																																	0													204	179	188					5																	127611766		2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7558G>A	5.37:g.127611766C>T	ENSP00000424571:p.Gly2520Arg		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G2520R	ENST00000508053.1	37	c.7558	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727833	0.89390	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92752	-3.1;-3.1	5.16	5.16	0.70880	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000016	D	0.97145	0.9067	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97628	1.0140	10	0.87932	D	0	.	19.2125	0.93763	0.0:1.0:0.0:0.0	.	2520	P35556	FBN2_HUMAN	R	2520	ENSP00000262464:G2520R;ENSP00000424571:G2520R	ENSP00000262464:G2520R	G	-	1	0	FBN2	127639665	1.000000	0.71417	0.962000	0.40283	0.529000	0.34654	7.609000	0.82925	2.840000	0.97914	0.655000	0.94253	GGG	FBN2	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000138829		0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	60	0	C	NM_001999		127611766	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	34.67	49	26	SNP	1.000	T	T	127611766	C	T	127611766	3	4	169	1	0	0	0	0	1	0	0	0	5725	623	22	3	1208	3	FBN2	5	127611766	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	24716011	127611766	53303494	45	42523											
HARS	3035	genome.wustl.edu	37	chr5	140070830	140070830	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggccttctgctgcttgagGcctcgcacgcgctctccctg	2	11	11	17	3	2	1	0	1	2	0	4	1	2	1	3	2	2	4	3	2	0	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr5:140070830G>T	ENST00000504156.1	-	1	779	c.60C>A	c.(58-60)ggC>ggA	p.G20G	HARS_ENST00000448240.1_5'UTR|HARS2_ENST00000437649.2_5'Flank|HARS_ENST00000457527.2_Silent_p.G20G|HARS2_ENST00000230771.3_5'Flank|HARS_ENST00000431330.2_Silent_p.G20G|HARS_ENST00000415192.2_Silent_p.G20G|HARS_ENST00000307633.3_Silent_p.G20G|HARS2_ENST00000448069.2_5'Flank|HARS2_ENST00000508522.1_5'Flank|HARS2_ENST00000435019.2_5'Flank|HARS_ENST00000438307.2_Silent_p.G20G|HARS2_ENST00000432671.2_5'Flank	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	20	WHEP-TRS.				gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GCTGCTTGAGGCCTCGCACGC	0.652																																																	0													42	35	37					5																	140070830		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4816	protein-coding gene	gene with protein product	"histidine tRNA ligase 1, cytoplasmic"	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.60C>A	5.37:g.140070830G>T			B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase	p.G20	ENST00000504156.1	37	c.60	CCDS4237.1	5																																																																																			HARS	-	pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS	ENSG00000170445		0.652	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS	HGNC	protein_coding	OTTHUMT00000251673.2	-	0	34	0	G	NM_002109		140070830	-1	tier1	-	no_errors	ENST00000504156	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.015	T	T	140070830	G	T	140070830	2	4	169	1	0	0	0	0	0	0	0	1	6986	1190	42	3		3	HARS	5	140070830	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	12459064	140070830	40844430	46	42524											
RNF145	153830	genome.wustl.edu	37	chr5	158595982	158595982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggataatactgagcaaGaatgcccgatgaacaacctg	18	6	9	8	1	0	3	0	2	0	1	0	5	0	4	2	1	5	1	2	1	8	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr5:158595982G>T	ENST00000424310.2	-	8	1379	c.1020C>A	c.(1018-1020)ttC>ttA	p.F340L	RNF145_ENST00000521606.2_Missense_Mutation_p.F357L|RNF145_ENST00000274542.2_Missense_Mutation_p.F368L|RNF145_ENST00000518802.1_Missense_Mutation_p.F370L|RNF145_ENST00000520638.1_Missense_Mutation_p.F354L|RNF145_ENST00000519865.1_Missense_Mutation_p.F340L	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	340						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)			TACTGAGCAAGAATGCCCGAT	0.428																																																	0													131	131	131					5																	158595982		2203	4300	6503	SO:0001583	missense	0			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.1020C>A	5.37:g.158595982G>T	ENSP00000409064:p.Phe340Leu		B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.F370L	ENST00000424310.2	37	c.1110	CCDS56390.1	5	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734428	0.69189	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.77229	-1.08;-1.06;-1.06;-1.07;-1.07;-1.08;-1.07	5.08	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	L	0.43152	1.355	0.58432	D	0.999999	P;P;P;P;P	0.42296	0.775;0.775;0.775;0.602;0.734	B;B;B;B;B	0.42916	0.306;0.306;0.306;0.402;0.203	T	0.70313	-0.4906	10	0.31617	T	0.26	-23.5982	13.6881	0.62529	0.0753:0.0:0.9247:0.0	.	357;354;370;340;368	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	L	368;340;340;356;357;370;340;354	ENSP00000274542:F368L;ENSP00000430397:F340L;ENSP00000409064:F340L;ENSP00000430753:F356L;ENSP00000445115:F357L;ENSP00000430955:F370L;ENSP00000429071:F354L	ENSP00000274542:F368L	F	-	3	2	RNF145	158528560	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	5.539000	0.67199	1.254000	0.44035	0.585000	0.79938	TTC	RNF145	-	NULL	ENSG00000145860		0.428	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1		0	97	0	G	NM_144726		158595982	-1			no_errors	ENST00000518802	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	T	T	158595982	G	T	158595982	3	4	169	1	0	0	0	0	1	0	0	0	13492	933	33	3	987	3	RNF145	5	158595982	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	18525152	158595982	22319278	47	42525											
WWC1	23286	genome.wustl.edu	37	chr5	167841561	167841561	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tggaaaaggacctgcaggcaGcccgggacacccagagcaag	13	2	14	12	1	0	1	0	0	0	1	0	4	0	4	3	4	3	3	3	4	3	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr5:167841561G>T	ENST00000265293.4	+	9	1652	c.1150G>T	c.(1150-1152)Gcc>Tcc	p.A384S	WWC1_ENST00000521089.1_Missense_Mutation_p.A384S	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	384					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)		CCTGCAGGCAGCCCGGGACAC	0.667																																																	0													8	9	9					5																	167841561		2152	4203	6355	SO:0001583	missense	0			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.1150G>T	5.37:g.167841561G>T	ENSP00000265293:p.Ala384Ser		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.A384S	ENST00000265293.4	37	c.1150	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.344106|5.344106	0.95807|0.95807	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.11385|.	2.8;2.78|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82697|0.82697	0.5093|0.5093	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;0.999;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.96;0.981;0.996|.	T|T	0.83080|0.83080	-0.0138|-0.0138	10|5	0.87932|.	D|.	0|.	.|.	19.7903|19.7903	0.96454|0.96454	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	384;290;290;384|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	S|I	384|345;160	ENSP00000265293:A384S;ENSP00000427772:A384S|.	ENSP00000265293:A384S|.	A|S	+|+	1|2	0|0	WWC1|WWC1	167774139|167774139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.828000|0.828000	0.46876|0.46876	9.832000|9.832000	0.99423|0.99423	2.674000|2.674000	0.91012|0.91012	0.655000|0.655000	0.94253|0.94253	GCC|AGC	WWC1	-	NULL	ENSG00000113645		0.667	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	-	0	60	0	G	NM_015238		167841561	1	tier1	-	no_errors	ENST00000265293	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	167841561	G	T	167841561	3	4	169	1	0	0	0	0	1	0	0	0	17460	971	34	3	1184	3	WWC1	5	167841561	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	9245579	167841561	13073699	48	42526											
ID4	3400	genome.wustl.edu	37	chr6	19838106	19838108	+	In_Frame_Del	DEL	GCG	GCG	-																															gcctgggtggctccgcagccGcggcggcggcggcggcggca																										TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:19838106_19838108delGCG	ENST00000378700.3	+	1	490_492	c.121_123delGCG	c.(121-123)gcgdel	p.A48del	RP1-167F1.2_ENST00000432171.2_RNA	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative helix-loop-helix protein	48	Poly-Ala.				cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex neuron differentiation (GO:0021895)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|hippocampus development (GO:0021766)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast proliferation (GO:0007405)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(1)	1	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			CTCCGCAGCCgcggcggcggcgg	0.788																																					Esophageal Squamous(13;105 518 19978 28644 46870)												0										0,152		0,0,76						-2.7	0.9			1	16,642		6,4,319	no	coding	ID4	NM_001546.2		6,4,395	A1A1,A1R,RR		2.4316,0.0,1.9753				16,794				SO:0001651	inframe_deletion	0			U16153	CCDS4544.1	6p22.3	2013-05-21			ENSG00000172201	ENSG00000172201		"Basic helix-loop-helix proteins"	5363	protein-coding gene	gene with protein product		600581				7665172	Standard	NM_001546		Approved	bHLHb27	uc003ncw.4	P47928	OTTHUMG00000014333	ENST00000378700.3:c.121_123delGCG	6.37:g.19838115_19838117delGCG	ENSP00000367972:p.Ala48del		Q13005	In_Frame_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_bHLH_dom,pfscan_bHLH_dom	p.A44in_frame_del	ENST00000378700.3	37	c.121_123	CCDS4544.1	6																																																																																			ID4	-	superfamily_Trp_syn_b_sub_like_PLP_eny_SF	ENSG00000172201		0.788	ID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID4	HGNC	protein_coding	OTTHUMT00000039979.1		0	26	0	GCG	NM_001546		19838108	1	tier1		no_errors	ENST00000378700	ensembl	human	known	74_37	in_frame_del	10.00	18	2	DEL	0.988:0.989:0.984	-	-	19838108	GCG	-	19838106	7	5	169	1	0	1	0	1	0	0	0	0	7519	1087	38	0	123	0	ID4	6	19838106	In_Frame_Del	DEL	GCG	TCGA-VR-A8EY-01A-11D-A36J-09		19838106	151276961	49	42527											
BTN2A2	10385	genome.wustl.edu	37	chr6	26392963	26392963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagtccctttgccgggtggGcgtcttcctggactatgaag	5	11	15	10	2	1	1	0	1	1	0	3	3	3	3	3	4	1	0	3	4	2	3	rs200888343		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:26392963G>A	ENST00000356709.4	+	8	1451	c.1340G>A	c.(1339-1341)gGc>gAc	p.G447D	BTN2A2_ENST00000482536.1_Missense_Mutation_p.G237D|BTN2A2_ENST00000416795.2_Missense_Mutation_p.G447D|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Missense_Mutation_p.G331D|BTN2A2_ENST00000469230.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	447	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCGGGTGGGCGTCTTCCTG	0.542																																																	0													104	97	99					6																	26392963		2203	4300	6503	SO:0001583	missense	0			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1340G>A	6.37:g.26392963G>A	ENSP00000349143:p.Gly447Asp		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.G447D	ENST00000356709.4	37	c.1340	CCDS4606.1	6	.	.	.	.	.	.	.	.	.	.	.	13.36	2.213226	0.39102	.	.	ENSG00000124508	ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	3.78	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.558553	0.16195	N	0.225198	D	0.91257	0.7244	H	0.97051	3.93	0.32856	D	0.507257	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.973;0.994;0.998	D	0.89600	0.3834	10	0.87932	D	0	.	11.3479	0.49571	0.0:0.6204:0.3796:0.0	.	237;331;447	E9PH07;A6NM84;Q8WVV5	.;.;BT2A2_HUMAN	D	447;331;237;447	ENSP00000349143:G447D;ENSP00000337117:G331D;ENSP00000419451:G237D;ENSP00000399308:G447D	ENSP00000337117:G331D	G	+	2	0	BTN2A2	26500942	0.661000	0.27430	0.012000	0.15200	0.140000	0.21249	3.336000	0.52113	-0.084000	0.12595	0.454000	0.30748	GGC	BTN2A2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY	ENSG00000124508		0.542	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A2	HGNC	protein_coding	OTTHUMT00000040117.1		0	71	0	G			26392963	1			no_errors	ENST00000356709	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.897	A	A	26392963	G	A	26392963	3	1	169	1	0	0	0	0	1	0	0	0	1565	1203	42	3	1366	3	BTN2A2	6	26392963	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	6554857	26392963	144722104	50	42528											
TRIM27	5987	genome.wustl.edu	37	chr6	28876806	28876806	+	Missense_Mutation	SNP	A	A	C	1	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	atttttgggcaaaaatgtggAttttctcttgcaaatctgga	11	16	9	5	0	2	0	0	0	2	0	3	2	2	2	0	3	1	2	0	3	3	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:28876806A>C	ENST00000377199.3	-	5	1186	c.830T>G	c.(829-831)aTc>aGc	p.I277S	TRIM27_ENST00000498117.1_5'Flank|TRIM27_ENST00000377194.3_Missense_Mutation_p.I277S	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	277					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						AAAAATGTGGATTTTCTCTTG	0.368			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0													84	86	85					6																	28876806		2203	4300	6503	SO:0001583	missense	0			Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.830T>G	6.37:g.28876806A>C	ENSP00000366404:p.Ile277Ser		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.I277S	ENST00000377199.3	37	c.830	CCDS4654.1	6	.	.	.	.	.	.	.	.	.	.	A	13.97	2.397391	0.42512	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.62364	0.55;0.03	4.29	4.29	0.51040	.	0.000000	0.53938	D	0.000054	T	0.35098	0.0920	L	0.38175	1.15	0.36806	D	0.885623	B;B;B	0.22983	0.078;0.001;0.002	B;B;B	0.19666	0.026;0.003;0.002	T	0.39603	-0.9606	10	0.48119	T	0.1	.	10.1172	0.42598	1.0:0.0:0.0:0.0	.	344;277;277	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	S	277	ENSP00000366404:I277S;ENSP00000366399:I277S	ENSP00000366399:I277S	I	-	2	0	TRIM27	28984785	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.422000	0.44696	2.161000	0.67846	0.533000	0.62120	ATC	TRIM27	-	NULL	ENSG00000204713		0.368	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2	-	0	56	0	A	NM_030950		28876806	-1	tier1	-	no_errors	ENST00000377199	ensembl	human	known	74_37	missense	33.73	55	28	SNP	1.000	C	C	28876806	A	C	28876806	3	2	169	1	0	0	0	0	1	0	0	0	16549	333	12	4	727	4	TRIM27	6	28876806	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	2483843	28876806	142238261	51	42529											
TRIM26	7726	genome.wustl.edu	37	chr6	30166680	30166680	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctggccagttgccacacGggtcggatgttctccttctt	5	12	12	12	2	2	0	0	0	2	0	4	1	2	1	3	4	1	3	3	4	0	4	rs367664883		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:30166680G>T	ENST00000454678.2	-	4	637	c.201C>A	c.(199-201)ccC>ccA	p.P67P	TRIM26_ENST00000453195.1_Silent_p.P67P|TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000437089.1_Silent_p.P67P	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	67					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)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.P67P(1)		lung(1)|ovary(2)	3						GTTGCCACACGGGTCGGATGT	0.622																																																	1	Substitution - coding silent(1)	large_intestine(1)											72	69	70					6																	30166680		1509	2708	4217	SO:0001819	synonymous_variant	0			AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.201C>A	6.37:g.30166680G>T			A6NG96|Q5SRL2	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.P67	ENST00000454678.2	37	c.201	CCDS4678.1	6																																																																																			TRIM26	-	NULL	ENSG00000234127		0.622	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM26	HGNC	protein_coding	OTTHUMT00000253442.1		0	26	0	G	NM_003449		30166680	-1			no_errors	ENST00000437089	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.324	T	T	30166680	G	T	30166680	2	4	169	1	0	0	0	0	0	0	0	1	16548	1103	39	2		2	TRIM26	6	30166680	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	1289874	30166680	140948387	52	42530											
BAT1	7919	genome.wustl.edu	37	chr6	31500611	31500611	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agcttccggttcttctcgttGtccttcagtttcacgtagta	5	17	8	11	3	4	0	2	0	2	0	7	0	6	0	2	1	1	6	2	1	2	8			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:31500611G>T	ENST00000396172.1	-	7	1443	c.813C>A	c.(811-813)gaC>gaA	p.D271E	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Missense_Mutation_p.D193E|DDX39B_ENST00000376177.2_Missense_Mutation_p.D271E|DDX39B_ENST00000458640.1_Missense_Mutation_p.D271E|DDX39B_ENST00000417556.2_Missense_Mutation_p.D286E|DDX39B_ENST00000462421.1_5'Flank	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	271	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCTTCTCGTTGTCCTTCAGTT	0.542																																																	0													135	107	117					6																	31500611		1511	2709	4220	SO:0001583	missense	0			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.813C>A	6.37:g.31500611G>T	ENSP00000379475:p.Asp271Glu		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D286E	ENST00000396172.1	37	c.858	CCDS4697.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.27|10.27	1.305002|1.305002	0.23736|0.23736	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908;ENST00000427214|ENST00000417023	D;T;T;T;T;T;T|.	0.91996|.	-2.95;3.6;3.6;3.6;3.6;3.6;3.69|.	5.46|5.46	4.58|4.58	0.56647|0.56647	Helicase, C-terminal (1);|.	0.125934|.	0.50627|.	D|.	0.000118|.	T|T	0.12518|0.12518	0.0304|0.0304	N|N	0.01618|0.01618	-0.8|-0.8	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.14805|.	0.0;0.0;0.0;0.011|.	B;B;B;B|.	0.13407|.	0.0;0.002;0.0;0.009|.	T|T	0.14868|0.14868	-1.0457|-1.0457	10|5	0.02654|.	T|.	1|.	-22.1556|-22.1556	13.2483|13.2483	0.60036|0.60036	0.0:0.0:0.8398:0.1602|0.0:0.0:0.8398:0.1602	.|.	193;271;271;286|.	B4DP52;Q13838;Q5STU3;F8VQ10|.	.;DX39B_HUMAN;.;.|.	E|K	271;271;271;286;193;193;271|35	ENSP00000365347:D271E;ENSP00000416269:D271E;ENSP00000379475:D271E;ENSP00000412582:D286E;ENSP00000392669:D193E;ENSP00000408000:D193E;ENSP00000399371:D271E|.	ENSP00000365347:D271E|.	D|T	-|-	3|2	2|0	DDX39B|DDX39B	31608590|31608590	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.317000|6.317000	0.72862|0.72862	1.277000|1.277000	0.44412|0.44412	0.655000|0.655000	0.94253|0.94253	GAC|ACA	DDX39B	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000198563		0.542	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39B	HGNC	protein_coding	OTTHUMT00000259083.1		0	46	0	G	NM_004640		31500611	-1			no_errors	ENST00000417556	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	31500611	G	T	31500611	3	4	169	1	0	0	0	0	1	0	0	0	1319	1368	48	3	493	3	BAT1	6	31500611	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	1333931	31500611	139614456	53	42531											
BAT5	7920	genome.wustl.edu	37	chr6	31664812	31664812	+	Splice_Site	SNP	T	T	G	0	1	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	ttggtccagcggccaatgccTggtagaaaaaggacaggaaa	14	6	13	8	1	0	1	0	0	0	1	1	3	1	3	3	5	2	1	3	5	5	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:31664812T>G	ENST00000395952.3	-	5	506		c.e5-2		ABHD16A_ENST00000440843.2_Splice_Site|ABHD16A_ENST00000538874.1_Splice_Site|ABHD16A_ENST00000375842.4_Splice_Site|XXbac-BPG32J3.20_ENST00000461287.1_Splice_Site	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A							integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GGCCAATGCCTGGTAGAAAAA	0.498																																																	0													102	99	100					6																	31664812		1509	2709	4218	SO:0001630	splice_region_variant	0			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.344-2A>C	6.37:g.31664812T>G			A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Splice_Site	SNP	-	e5-2	ENST00000395952.3	37	c.344-2	CCDS4713.1	6	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122390	0.37436	.	.	ENSG00000204427	ENST00000395952;ENST00000440843;ENST00000538874	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5045	0.55973	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABHD16A	31772791	1.000000	0.71417	0.997000	0.53966	0.366000	0.29705	5.942000	0.70203	2.212000	0.71576	0.260000	0.18958	.	ABHD16A	-	-	ENSG00000204427		0.498	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16A	HGNC	protein_coding	OTTHUMT00000076342.4	-	0	79	0	T		Intron	31664812	-1	tier1	-	no_errors	ENST00000395952	ensembl	human	known	74_37	splice_site	44.00	70	55	SNP	0.980	G	G	31664812	T	G	31664812	5	3	169	1	0	0	0	0	0	0	1	0	1325	1594	55	4	1398	4	BAT5	6	31664812	Splice_Site	SNP	T	TCGA-VR-A8EY-01A-11D-A36J-09	164201	31664812	139450255	54	42532											
TRERF1	55809	genome.wustl.edu	37	chr6	42211080	42211080	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agtagtactccacgcactgaGccaccgtcttggacttcacc	9	9	8	15	2	2	1	1	1	1	0	3	2	3	2	4	1	2	3	4	1	2	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:42211080G>T	ENST00000372922.4	-	15	3327	c.2765C>A	c.(2764-2766)gCt>gAt	p.A922D	TRERF1_ENST00000541110.1_Missense_Mutation_p.A942D|TRERF1_ENST00000354325.2_Missense_Mutation_p.A839D|TRERF1_ENST00000340840.2_Missense_Mutation_p.A839D|TRERF1_ENST00000372917.4_Missense_Mutation_p.A839D	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	922	Interacts with CREBBP.|SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				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)			CACGCACTGAGCCACCGTCTT	0.502																																																	0													124	107	113					6																	42211080		2203	4300	6503	SO:0001583	missense	0			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.2765C>A	6.37:g.42211080G>T	ENSP00000362013:p.Ala922Asp		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.A942D	ENST00000372922.4	37	c.2825	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	g	33	5.242552	0.95272	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	6.16	6.16	0.99307	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.64402	D	0.000017	T	0.59810	0.2221	M	0.80616	2.505	0.51012	D	0.999906	D;D;D;D;P	0.76494	0.999;0.999;0.999;0.999;0.928	D;D;D;D;P	0.70016	0.967;0.927;0.927;0.967;0.828	T	0.61441	-0.7062	10	0.87932	D	0	-11.2222	20.4596	0.99160	0.0:0.0:1.0:0.0	.	839;942;922;678;678	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	D	942;839;922;839;839	ENSP00000439689:A942D;ENSP00000362008:A839D;ENSP00000362013:A922D;ENSP00000339438:A839D;ENSP00000346285:A839D	ENSP00000339438:A839D	A	-	2	0	TRERF1	42319058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.989000	0.76219	2.937000	0.99478	0.651000	0.88453	GCT	TRERF1	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000124496		0.502	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2		0	48	0	G	NM_033502		42211080	-1			no_errors	ENST00000541110	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	42211080	G	T	42211080	3	4	169	1	0	0	0	0	1	0	0	0	16523	971	34	3	853	3	TRERF1	6	42211080	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	10546268	42211080	128903987	55	42533											
SPACA1	81833	genome.wustl.edu	37	chr6	88775967	88775967	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tacaatccgagcagagttctGtgagatacaaagattcaact	15	10	8	8	1	2	3	1	1	1	3	3	5	3	3	1	0	4	2	1	0	5	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:88775967G>T	ENST00000237201.1	+	7	916	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	SPACA1_ENST00000462690.1_3'UTR	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	267					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		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;0.11)		GCAGAGTTCTGTGAGATACAA	0.413																																																	0													107	116	113					6																	88775967		2203	4300	6503	SO:0001583	missense	0			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.799G>T	6.37:g.88775967G>T	ENSP00000237201:p.Val267Leu			Missense_Mutation	SNP	NULL	p.V267L	ENST00000237201.1	37	c.799	CCDS5014.1	6	.	.	.	.	.	.	.	.	.	.	G	4.317	0.058097	0.08339	.	.	ENSG00000118434	ENST00000237201	T	0.27256	1.68	4.81	-3.45	0.04781	.	1.092750	0.06794	N	0.787500	T	0.07863	0.0197	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43782	-0.9370	10	0.38643	T	0.18	-3.7031	11.2739	0.49155	0.3678:0.0:0.6322:0.0	.	267	Q9HBV2	SACA1_HUMAN	L	267	ENSP00000237201:V267L	ENSP00000237201:V267L	V	+	1	0	SPACA1	88832686	0.102000	0.21896	0.393000	0.26258	0.002000	0.02628	-0.370000	0.07523	-0.484000	0.06763	-0.373000	0.07131	GTG	SPACA1	-	NULL	ENSG00000118434		0.413	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA1	HGNC	protein_coding	OTTHUMT00000041459.1	-	0	52	0	G			88775967	1	tier1	-	no_errors	ENST00000237201	ensembl	human	known	74_37	missense	5.41	69	4	SNP	0.022	T	T	88775967	G	T	88775967	3	4	169	1	0	0	0	0	1	0	0	0	15017	1377	48	3	825	3	SPACA1	6	88775967	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	46564887	88775967	82339100	56	42534											
EPHA7	2045	genome.wustl.edu	37	chr6	93956675	93956675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccatgggtgctggtaaaCgataaccttcttctattgct	9	14	9	9	1	2	0	0	0	2	0	3	1	3	0	2	2	4	3	2	2	4	6			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:93956675C>T	ENST00000369303.4	-	15	2745	c.2561G>A	c.(2560-2562)cGt>cAt	p.R854H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	854	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCTGGTAAACGATAACCTTC	0.388																																																	0													82	82	82					6																	93956675		2203	4300	6503	SO:0001583	missense	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2561G>A	6.37:g.93956675C>T	ENSP00000358309:p.Arg854His		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R854H	ENST00000369303.4	37	c.2561	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.483443	0.96307	.	.	ENSG00000135333	ENST00000369303	D	0.85411	-1.98	5.98	5.98	0.97165	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	0.93874	0.8040	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.986;1.0;1.0	D	0.93957	0.7237	10	0.87932	D	0	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	850;849;854	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	H	854	ENSP00000358309:R854H	ENSP00000358309:R854H	R	-	2	0	EPHA7	94013396	1.000000	0.71417	0.974000	0.42286	0.973000	0.67179	7.726000	0.84824	2.838000	0.97847	0.591000	0.81541	CGT	EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135333		0.388	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	-	0	60	0	C			93956675	-1	tier1	-	no_errors	ENST00000369303	ensembl	human	known	74_37	missense	28.26	33	13	SNP	1.000	T	T	93956675	C	T	93956675	3	4	169	1	0	0	0	0	1	0	0	0	5188	536	19	1	447	1	EPHA7	6	93956675	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	5180708	93956675	77158392	57	42535											
HACE1	57531	genome.wustl.edu	37	chr6	105244829	105244829	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacataaatccagaggagttActccatttttatctggcaga	13	12	7	9	0	1	2	0	0	1	2	3	3	3	3	2	2	1	2	2	2	4	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:105244829A>T	ENST00000262903.4	-	8	965	c.689T>A	c.(688-690)gTa>gAa	p.V230E	HACE1_ENST00000369125.2_Missense_Mutation_p.V230E	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	230					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CAGAGGAGTTACTCCATTTTT	0.333																																																	0													118	117	117					6																	105244829		2203	4300	6503	SO:0001583	missense	0			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.689T>A	6.37:g.105244829A>T	ENSP00000262903:p.Val230Glu		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.V230E	ENST00000262903.4	37	c.689	CCDS5050.1	6	.	.	.	.	.	.	.	.	.	.	A	20.0	3.931294	0.73442	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645	T;T;T	0.62498	0.02;0.02;0.02	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.180765	0.49305	D	0.000151	T	0.40522	0.1120	N	0.14661	0.345	0.54753	D	0.999988	P;P	0.48407	0.91;0.91	P;B	0.46049	0.502;0.216	T	0.52808	-0.8526	10	0.62326	D	0.03	.	15.4695	0.75429	1.0:0.0:0.0:0.0	.	230;230	E9PGP0;Q8IYU2	.;HACE1_HUMAN	E	230;230;186	ENSP00000262903:V230E;ENSP00000358121:V230E;ENSP00000429765:V186E	ENSP00000262903:V230E	V	-	2	0	HACE1	105351522	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.435000	0.90297	2.050000	0.60909	0.397000	0.26171	GTA	HACE1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000085382		0.333	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	HGNC	protein_coding	OTTHUMT00000041643.2		0	55	0	A	XM_045095		105244829	-1			no_errors	ENST00000262903	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	105244829	A	T	105244829	3	4	169	1	0	0	0	0	1	0	0	0	6967	391	14	5	2108	5	HACE1	6	105244829	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	11288154	105244829	65870238	58	42536											
REV3L	5980	genome.wustl.edu	37	chr6	111693909	111693909	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttcttccctacttgggggGgacataagtggtttcagaat	9	14	11	7	0	2	1	1	0	1	1	3	2	3	2	1	4	1	1	1	4	3	6			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:111693909G>T	ENST00000358835.3	-	14	6103	c.5649C>A	c.(5647-5649)tcC>tcA	p.S1883S	REV3L_ENST00000435970.1_Silent_p.S1805S|REV3L_ENST00000368805.1_Silent_p.S1883S|REV3L_ENST00000368802.3_Silent_p.S1883S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1883	Mediates interaction with MAD2L2.				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)		TACTTGGGGGGGACATAAGTG	0.433								DNA polymerases (catalytic subunits)																																									0													162	170	167					6																	111693909		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5649C>A	6.37:g.111693909G>T			O43214|Q5TC33	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S1883	ENST00000358835.3	37	c.5649	CCDS5091.2	6																																																																																			REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.433	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0	68	0	G	NM_002912		111693909	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.742	T	T	111693909	G	T	111693909	2	4	169	1	0	0	0	0	0	0	0	1	13285	1219	43	3		3	REV3L	6	111693909	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	6449080	111693909	59421158	59	42537											
PEX3	8504	genome.wustl.edu	37	chr6	143800253	143800253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatacctgtttaaaccgaGgttttagtagacttctagac	12	14	8	7	1	1	3	0	1	1	2	1	4	1	3	2	1	2	3	2	1	7	8			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:143800253G>T	ENST00000367591.4	+	10	922	c.859G>T	c.(859-861)Ggt>Tgt	p.G287C		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	287					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)		TTTAAACCGAGGTTTTAGTAG	0.333																																																	0													95	93	94					6																	143800253		2203	4300	6503	SO:0001583	missense	0			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.859G>T	6.37:g.143800253G>T	ENSP00000356563:p.Gly287Cys		Q6FGP5	Missense_Mutation	SNP	pfam_Peroxin-3	p.G287C	ENST00000367591.4	37	c.859	CCDS5199.1	6	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777511	0.90195	.	.	ENSG00000034693	ENST00000367591	T	0.47528	0.84	5.86	5.86	0.93980	.	0.047618	0.85682	D	0.000000	T	0.65616	0.2708	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59511	-0.7441	10	0.38643	T	0.18	-16.208	20.5632	0.99335	0.0:0.0:1.0:0.0	.	287	P56589	PEX3_HUMAN	C	287	ENSP00000356563:G287C	ENSP00000356563:G287C	G	+	1	0	PEX3	143841946	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	8.699000	0.91316	2.937000	0.99478	0.650000	0.86243	GGT	PEX3	-	pfam_Peroxin-3	ENSG00000034693		0.333	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX3	HGNC	protein_coding	OTTHUMT00000042525.1	-	0	67	0	G			143800253	1	tier1	-	no_errors	ENST00000367591	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	143800253	G	T	143800253	3	4	169	1	0	0	0	0	1	0	0	0	11786	1000	35	3	897	3	PEX3	6	143800253	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	32106344	143800253	27314814	60	42538											
SYNE1	23345	genome.wustl.edu	37	chr6	152545638	152545638	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	taattccttacctgaagattGtccacctgaacttgcacagc	11	12	6	12	0	0	3	0	2	0	1	2	3	2	3	4	0	4	1	4	0	4	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:152545638G>C	ENST00000367255.5	-	117	22114	c.21513C>G	c.(21511-21513)gaC>gaG	p.D7171E	SYNE1_ENST00000356820.4_Missense_Mutation_p.D1695E|SYNE1_ENST00000341594.5_Missense_Mutation_p.D6783E|SYNE1_ENST00000265368.4_Missense_Mutation_p.D7171E|SYNE1_ENST00000423061.1_Missense_Mutation_p.D7100E|SYNE1_ENST00000448038.1_Missense_Mutation_p.D7100E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7171					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)		CCTGAAGATTGTCCACCTGAA	0.388										HNSCC(10;0.0054)																																							0													95	89	91					6																	152545638		2203	4300	6503	SO:0001583	missense	0			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.21513C>G	6.37:g.152545638G>C	ENSP00000356224:p.Asp7171Glu		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D7171E	ENST00000367255.5	37	c.21513	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	3.690	-0.063670	0.07273	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.73	2.85	0.33270	.	0.190829	0.36268	N	0.002690	T	0.04182	0.0116	N	0.03608	-0.345	0.32901	D	0.513153	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12156	0.007;0.007;0.004;0.007	T	0.33317	-0.9873	10	0.07482	T	0.82	.	0.7466	0.00983	0.2021:0.1516:0.3454:0.3009	.	7171;7171;7100;7100	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	E	7171;7100;7171;7100;6783;1695;93	ENSP00000356224:D7171E;ENSP00000396024:D7100E;ENSP00000265368:D7171E;ENSP00000390975:D7100E;ENSP00000341887:D6783E;ENSP00000349276:D1695E;ENSP00000356220:D93E	ENSP00000265368:D7171E	D	-	3	2	SYNE1	152587331	0.998000	0.40836	1.000000	0.80357	0.933000	0.57130	0.452000	0.21795	1.562000	0.49601	0.655000	0.94253	GAC	SYNE1	-	pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	66	0	G	NM_182961		152545638	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	28.57	55	22	SNP	1.000	C	C	152545638	G	C	152545638	3	2	169	1	0	0	0	0	1	0	0	0	15492	1368	48	5	5073	5	SYNE1	6	152545638	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	8745385	152545638	18569429	61	42539											
ARID1B	57492	genome.wustl.edu	37	chr6	157517363	157517363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagcagcatgcaggacatGtacaaccaaagtccctccgg	14	5	9	13	1	0	0	0	0	0	0	2	1	2	1	3	2	6	4	3	2	4	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:157517363G>T	ENST00000350026.5	+	15	3889	c.3888G>T	c.(3886-3888)atG>atT	p.M1296I	ARID1B_ENST00000275248.4_Missense_Mutation_p.M1291I|ARID1B_ENST00000367148.1_Missense_Mutation_p.M1349I|ARID1B_ENST00000346085.5_Missense_Mutation_p.M1309I	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1296					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGCAGGACATGTACAACCAAA	0.488																																																	0													158	152	154					6																	157517363		2203	4296	6499	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3888G>T	6.37:g.157517363G>T	ENSP00000055163:p.Met1296Ile		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.M1349I	ENST00000350026.5	37	c.4047	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651256	0.29336	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02140	4.77;4.75;4.76;4.76;4.43	5.54	4.67	0.58626	.	0.123784	0.64402	D	0.000001	T	0.00967	0.0032	L	0.43152	1.355	0.52501	D	0.999956	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.003	T	0.49293	-0.8955	10	0.16896	T	0.51	.	11.5308	0.50610	0.1438:0.0:0.8562:0.0	.	1296;1309;1291	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	I	1309;1296;1349;1291;818	ENSP00000344546:M1309I;ENSP00000055163:M1296I;ENSP00000356116:M1349I;ENSP00000275248:M1291I;ENSP00000412835:M818I	ENSP00000275248:M1291I	M	+	3	0	ARID1B	157559055	1.000000	0.71417	0.995000	0.50966	0.750000	0.42670	3.683000	0.54663	1.479000	0.48272	0.655000	0.94253	ATG	ARID1B	-	NULL	ENSG00000049618		0.488	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1		0	55	0	G	NM_020732		157517363	1			no_errors	ENST00000367148	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	157517363	G	T	157517363	3	4	169	1	0	0	0	0	1	0	0	0	914	1377	48	3	3989	3	ARID1B	6	157517363	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	4971725	157517363	13597704	62	42540											
ARID1B	57492	genome.wustl.edu	37	chr6	157528625	157528625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctatgctacattagttaGgtacgttggggatcgcaaaa	12	13	10	6	2	1	0	0	0	1	0	2	1	1	1	0	3	3	5	0	3	7	7			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:157528625G>T	ENST00000350026.5	+	19	6312	c.6311G>T	c.(6310-6312)aGg>aTg	p.R2104M	ARID1B_ENST00000275248.4_Missense_Mutation_p.R2099M|ARID1B_ENST00000367148.1_Missense_Mutation_p.R2157M|ARID1B_ENST00000346085.5_Missense_Mutation_p.R2117M	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2104					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACATTAGTTAGGTACGTTGGG	0.488																																																	0													187	196	193					6																	157528625		2203	4296	6499	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6311G>T	6.37:g.157528625G>T	ENSP00000055163:p.Arg2104Met		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R2157M	ENST00000350026.5	37	c.6470	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114255	0.37339	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.26	5.26	0.73747	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.994	T	0.64441	-0.6407	10	0.87932	D	0	.	19.2386	0.93873	0.0:0.0:1.0:0.0	.	2104;2117;2099	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	M	2117;2104;2157;2099;1626	ENSP00000344546:R2117M;ENSP00000055163:R2104M;ENSP00000356116:R2157M;ENSP00000275248:R2099M;ENSP00000412835:R1626M	ENSP00000275248:R2099M	R	+	2	0	ARID1B	157570317	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.812000	0.86109	2.607000	0.88179	0.655000	0.94253	AGG	ARID1B	-	pfam_DUF3518,superfamily_ARM-type_fold	ENSG00000049618		0.488	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0	53	0	G	NM_020732		157528625	1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	T	T	157528625	G	T	157528625	3	4	169	1	0	0	0	0	1	0	0	0	914	1000	35	3	6428	3	ARID1B	6	157528625	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	11262	157528625	13586442	63	42541											
AGPAT4	56895	genome.wustl.edu	37	chr6	161557631	161557631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcagagcccttgtcaatttCcgtcacaccaatcatccatc	10	10	6	15	1	3	1	3	0	0	1	6	1	5	1	4	1	1	1	4	1	2	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr6:161557631C>T	ENST00000320285.4	-	9	1290	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.E198K	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	360					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|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)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.E360K(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TTGTCAATTTCCGTCACACCA	0.537																																																	1	Substitution - Missense(1)	skin(1)											143	117	126					6																	161557631		2203	4300	6503	SO:0001583	missense	0			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20885	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, delta"	614795	"1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.1078G>A	6.37:g.161557631C>T	ENSP00000314036:p.Glu360Lys		B4DSF9|Q5TEF0	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E360K	ENST00000320285.4	37	c.1078	CCDS5280.1	6	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776613	0.90195	.	.	ENSG00000026652	ENST00000320285;ENST00000457520	T	0.30182	1.54	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	L	0.38953	1.18	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.994	T	0.02471	-1.1154	10	0.33141	T	0.24	-27.1734	18.9796	0.92751	0.0:1.0:0.0:0.0	rs34536691	198;360	B4DSF9;Q9NRZ5	.;PLCD_HUMAN	K	360;198	ENSP00000314036:E360K	ENSP00000314036:E360K	E	-	1	0	AGPAT4	161477621	1.000000	0.71417	0.733000	0.30861	0.888000	0.51559	6.489000	0.73641	2.723000	0.93209	0.655000	0.94253	GAA	AGPAT4	-	NULL	ENSG00000026652		0.537	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT4	HGNC	protein_coding	OTTHUMT00000042983.1		0	30	0	C	NM_020133		161557631	-1			no_errors	ENST00000320285	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.181	T	T	161557631	C	T	161557631	3	4	169	1	0	0	0	0	1	0	0	0	389	864	30	3	62	3	AGPAT4	6	161557631	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	4029006	161557631	9557436	64	42542											
PAPOLB	56903	genome.wustl.edu	37	chr7	4899602	4899602	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacatgttgaagaaacaaCtctggcgaccatggcctttg	12	9	11	9	1	1	3	0	1	1	2	1	5	1	3	2	2	2	1	2	2	3	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr7:4899602C>G	ENST00000404991.1	-	1	2023	c.1837G>C	c.(1837-1839)Gtt>Ctt	p.V613L	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	613					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GAAGAAACAACTCTGGCGACC	0.438																																																	0													81	85	84					7																	4899602		2141	4275	6416	SO:0001583	missense	0			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1837G>C	7.37:g.4899602C>G	ENSP00000384700:p.Val613Leu		Q75LH1|Q8NE14	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.V613L	ENST00000404991.1	37	c.1837		7	.	.	.	.	.	.	.	.	.	.	C	9.082	0.999648	0.19121	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.38	3.49	0.39957	.	.	.	.	.	T	0.36110	0.0955	L	0.32530	0.975	0.27827	N	0.941571	B	0.12630	0.006	B	0.14578	0.011	T	0.17930	-1.0353	8	0.19590	T	0.45	.	12.6468	0.56740	0.0:0.8318:0.1682:0.0	.	614	A4D1Z6	.	L	613	.	ENSP00000384700:V613L	V	-	1	0	PAPOLB	4866128	1.000000	0.71417	0.975000	0.42487	0.451000	0.32288	1.422000	0.34826	1.416000	0.47057	0.591000	0.81541	GTT	PAPOLB	-	pirsf_PolyA_polymerase	ENSG00000218823		0.438	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	PAPOLB	HGNC	protein_coding	OTTHUMT00000323797.1	-	0	78	0	C	NM_020144		4899602	-1	tier1	-	no_errors	ENST00000404991	ensembl	human	known	74_37	missense	8.04	103	9	SNP	0.998	G	G	4899602	C	G	4899602	3	3	169	1	0	0	0	0	1	0	0	0	11469	565	20	5	77	5	PAPOLB	7	4899602	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09		4899602	154239061	65	42543											
NPVF	64111	genome.wustl.edu	37	chr7	25266610	25266610	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatcttttaattcctcaaaAttgaggcttctttccccttt	9	18	3	11	0	3	1	1	1	2	0	5	1	5	1	3	1	0	1	3	1	4	7			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr7:25266610A>C	ENST00000222674.2	-	2	220	c.174T>G	c.(172-174)aaT>aaG	p.N58K		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	58					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						ATTCCTCAAAATTGAGGCTTC	0.368																																																	0													88	95	93					7																	25266610		2203	4300	6503	SO:0001583	missense	0			AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"Endogenous ligands"	13782	protein-coding gene	gene with protein product	"RFamide-related peptide precursor", "FMRFamide-related peptide precursor"		"chromosome 7 open reading frame 9"	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.174T>G	7.37:g.25266610A>C	ENSP00000222674:p.Asn58Lys		A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	NULL	p.N58K	ENST00000222674.2	37	c.174	CCDS5395.1	7	.	.	.	.	.	.	.	.	.	.	A	9.881	1.201483	0.22121	.	.	ENSG00000105954	ENST00000222674	T	0.25912	1.77	5.67	3.29	0.37713	.	0.980375	0.08364	N	0.957198	T	0.30386	0.0763	M	0.65498	2.005	0.22701	N	0.998838	P	0.41848	0.763	B	0.39738	0.308	T	0.20306	-1.0279	10	0.59425	D	0.04	-11.0165	9.289	0.37775	0.8518:0.0:0.1482:0.0	.	58	Q9HCQ7	RFRP_HUMAN	K	58	ENSP00000222674:N58K	ENSP00000222674:N58K	N	-	3	2	NPVF	25233135	0.920000	0.31207	0.851000	0.33527	0.135000	0.20990	2.627000	0.46469	1.091000	0.41335	0.533000	0.62120	AAT	NPVF	-	NULL	ENSG00000105954		0.368	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPVF	HGNC	protein_coding	OTTHUMT00000250315.1	-	0	54	0	A	NM_022150		25266610	-1	tier1	-	no_errors	ENST00000222674	ensembl	human	known	74_37	missense	46.03	34	29	SNP	0.687	C	C	25266610	A	C	25266610	3	2	169	1	0	0	0	0	1	0	0	0	10644	98	4	4	424	4	NPVF	7	25266610	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	20367008	25266610	133872053	66	42544											
MLXIPL	51085	genome.wustl.edu	37	chr7	73008640	73008640	+	Silent	SNP	G	G	A	0	0	1	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	cagagagcagtactggtccaGccaggccagtgaggtctggc	9	6	15	11	0	1	2	0	1	1	1	2	3	2	2	3	4	3	2	3	4	1	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr7:73008640G>A	ENST00000313375.3	-	16	2451	c.2404C>T	c.(2404-2406)Ctg>Ttg	p.L802L	MLXIPL_ENST00000395189.1_Silent_p.L709L|MLXIPL_ENST00000354613.1_Silent_p.L781L|MLXIPL_ENST00000429400.2_Silent_p.L783L|MLXIPL_ENST00000414749.2_Silent_p.L800L|MLXIPL_ENST00000434326.1_Silent_p.L708L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	802					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)				TACTGGTCCAGCCAGGCCAGT	0.637																																																	0													81	72	75					7																	73008640		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2404C>T	7.37:g.73008640G>A			C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.L802	ENST00000313375.3	37	c.2404	CCDS5553.1	7																																																																																			MLXIPL	-	NULL	ENSG00000009950		0.637	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1		0	38	0	G	NM_032951		73008640	-1			no_errors	ENST00000313375	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	A	A	73008640	G	A	73008640	2	1	169	1	0	0	0	0	0	0	0	1	9675	962	34	3		3	MLXIPL	7	73008640	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	47742030	73008640	86130023	67	42545											
PCLO	27445	genome.wustl.edu	37	chr7	82474678	82474678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctgctgatgtaggacctGaatgaacatgagatcctttt	11	13	9	8	0	0	4	0	4	0	1	2	6	2	5	3	1	2	2	3	1	3	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr7:82474678G>A	ENST00000333891.9	-	13	14292	c.13955C>T	c.(13954-13956)tCa>tTa	p.S4652L	PCLO_ENST00000423517.2_Missense_Mutation_p.S4652L|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						TGTAGGACCTGAATGAACATG	0.517																																																	0													89	88	89					7																	82474678		1997	4168	6165	SO:0001583	missense	0			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.13955C>T	7.37:g.82474678G>A	ENSP00000334319:p.Ser4652Leu			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S4652L	ENST00000333891.9	37	c.13955	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517355	0.64634	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.17854	2.25;2.25	5.64	5.64	0.86602	.	.	.	.	.	T	0.40171	0.1106	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.989;0.981	D;D;D;D	0.87578	0.998;0.998;0.985;0.966	T	0.06162	-1.0842	9	0.87932	D	0	.	20.0625	0.97681	0.0:0.0:1.0:0.0	.	4652;4652;82;149	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	L	4652;4652;148	ENSP00000334319:S4652L;ENSP00000388393:S4652L	ENSP00000334319:S4652L	S	-	2	0	PCLO	82312614	1.000000	0.71417	0.965000	0.40720	0.995000	0.86356	5.464000	0.66719	2.816000	0.96949	0.561000	0.74099	TCA	PCLO	-	NULL	ENSG00000186472		0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	81	0	G	NM_014510		82474678	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	A	A	82474678	G	A	82474678	3	1	169	1	0	0	0	0	1	0	0	0	11622	1294	45	3	1542	3	PCLO	7	82474678	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	9466038	82474678	76663985	68	42546											
PCLO	27445	genome.wustl.edu	37	chr7	82544508	82544508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatggtatttcctaatgtgCccagtcctgtgccaagagaa	10	12	10	9	0	0	1	0	0	0	1	2	2	2	1	4	1	2	2	4	1	5	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr7:82544508C>G	ENST00000333891.9	-	7	13131	c.12794G>C	c.(12793-12795)gGc>gCc	p.G4265A	PCLO_ENST00000423517.2_Missense_Mutation_p.G4265A|PCLO_ENST00000437081.1_Missense_Mutation_p.G985A	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						TCCTAATGTGCCCAGTCCTGT	0.478																																																	0													21	22	21					7																	82544508		1937	4148	6085	SO:0001583	missense	0			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.12794G>C	7.37:g.82544508C>G	ENSP00000334319:p.Gly4265Ala			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.G4265A	ENST00000333891.9	37	c.12794	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	6.515	0.463286	0.12402	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.16897	2.31;2.31	6.03	6.03	0.97812	.	.	.	.	.	T	0.23766	0.0575	L	0.32530	0.975	0.32157	N	0.583435	P;P;P	0.51537	0.595;0.946;0.946	B;P;P	0.48840	0.192;0.592;0.592	T	0.02901	-1.1096	9	0.87932	D	0	.	18.7558	0.91832	0.0:1.0:0.0:0.0	.	4196;4265;4265	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	A	4265;4265;985	ENSP00000334319:G4265A;ENSP00000388393:G4265A	ENSP00000334319:G4265A	G	-	2	0	PCLO	82382444	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	4.751000	0.62169	2.868000	0.98415	0.557000	0.71058	GGC	PCLO	-	NULL	ENSG00000186472		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	43	0	C	NM_014510		82544508	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	21.05	60	16	SNP	1.000	G	G	82544508	C	G	82544508	3	3	169	1	0	0	0	0	1	0	0	0	11622	739	26	5	2727	5	PCLO	7	82544508	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	69830	82544508	76594155	69	42547											
PCLO	27445	genome.wustl.edu	37	chr7	82585180	82585180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctttccatttccaattctgGctcttcgtcaaaatacaaac	11	14	4	12	1	3	0	1	0	2	0	6	0	5	0	2	1	2	2	2	1	5	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr7:82585180G>C	ENST00000333891.9	-	5	5426	c.5089C>G	c.(5089-5091)Cca>Gca	p.P1697A	PCLO_ENST00000423517.2_Missense_Mutation_p.P1697A	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						TCCAATTCTGGCTCTTCGTCA	0.428																																																	0													99	90	93					7																	82585180		1865	4099	5964	SO:0001583	missense	0			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.5089C>G	7.37:g.82585180G>C	ENSP00000334319:p.Pro1697Ala			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.P1697A	ENST00000333891.9	37	c.5089	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824197	0.32237	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.26223	1.75;1.77	5.56	5.56	0.83823	.	.	.	.	.	T	0.54647	0.1871	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.57069	-0.7874	9	0.87932	D	0	.	19.5248	0.95199	0.0:0.0:1.0:0.0	.	1697;1697	Q9Y6V0-5;Q9Y6V0-6	.;.	A	1628;1697;1697	ENSP00000334319:P1697A;ENSP00000388393:P1697A	ENSP00000334319:P1697A	P	-	1	0	PCLO	82423116	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.454000	0.90352	2.624000	0.88883	0.650000	0.86243	CCA	PCLO	-	NULL	ENSG00000186472		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	38	0	G	NM_014510		82585180	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	C	C	82585180	G	C	82585180	3	2	169	1	0	0	0	0	1	0	0	0	11622	1203	42	5	10440	5	PCLO	7	82585180	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	40672	82585180	76553483	70	42548											
ZNF789	285989	genome.wustl.edu	37	chr7	99074101	99074101	+	Missense_Mutation	SNP	A	A	G	1	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	tgttcccaccagccagggggAaggtgagctgtgcctccccc	6	7	13	15	0	0	1	0	1	0	0	2	2	2	2	6	3	3	2	6	3	1	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr7:99074101A>G	ENST00000331410.5	+	2	292	c.22A>G	c.(22-24)Aag>Gag	p.K8E	ZNF789_ENST00000493485.1_5'UTR|ZNF789_ENST00000483089.1_5'UTR|ZNF789_ENST00000379724.3_Missense_Mutation_p.K8E|ZNF789_ENST00000448667.1_5'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	8					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)					AGCCAGGGGGAAGGTGAGCTG	0.562																																																	0													68	58	61					7																	99074101		2203	4300	6503	SO:0001583	missense	0			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.22A>G	7.37:g.99074101A>G	ENSP00000331927:p.Lys8Glu		A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K8E	ENST00000331410.5	37	c.22	CCDS34693.1	7	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071777	0.36566	.	.	ENSG00000198556	ENST00000331410;ENST00000379724	T;T	0.00801	5.68;5.68	3.89	-2.35	0.06684	Krueppel-associated box (1);	.	.	.	.	T	0.00608	0.0020	N	0.13140	0.3	0.49915	D	0.999838	B;P	0.39809	0.131;0.689	B;B	0.29077	0.039;0.098	T	0.68671	-0.5347	9	0.51188	T	0.08	.	11.3936	0.49827	0.3053:0.6946:0.0:0.0	.	8;8	Q5FWF6;A6NH61	ZN789_HUMAN;.	E	8	ENSP00000331927:K8E;ENSP00000369047:K8E	ENSP00000331927:K8E	K	+	1	0	ZNF789	98912037	0.050000	0.20438	0.266000	0.24541	0.057000	0.15508	-0.179000	0.09768	-0.137000	0.11455	0.459000	0.35465	AAG	ZNF789	-	superfamily_Krueppel-associated_box	ENSG00000198556		0.562	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF789	HGNC	protein_coding	OTTHUMT00000336266.1	-	0	28	0	A	NM_213603		99074101	1	tier1	-	no_errors	ENST00000331410	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.063	G	G	99074101	A	G	99074101	3	3	169	1	0	0	0	0	1	0	0	0	18208	247	9	4	24	4	ZNF789	7	99074101	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	16488921	99074101	60064562	71	42549											
KEL	3792	genome.wustl.edu	37	chr7	142638460	142638460	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ggaggtgtggagggctgtgaGtgtcgtgagagtcctggggg	5	9	23	4	1	0	2	0	2	0	1	2	5	1	4	1	6	0	1	1	6	0	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr7:142638460G>A	ENST00000355265.2	-	19	2552	c.2078C>T	c.(2077-2079)aCt>aTt	p.T693I		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	693					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)					AGGGCTGTGAGTGTCGTGAGA	0.617																																																	0													105	109	108					7																	142638460		2203	4300	6503	SO:0001583	missense	0			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2078C>T	7.37:g.142638460G>A	ENSP00000347409:p.Thr693Ile		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.T693I	ENST00000355265.2	37	c.2078	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	g	4.092	0.015039	0.07959	.	.	ENSG00000197993	ENST00000355265	D	0.90563	-2.69	4.77	-2.6	0.06190	Peptidase M13, neprilysin, C-terminal (1);	1.427210	0.04682	N	0.412461	T	0.80618	0.4657	L	0.28192	0.835	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.62651	-0.6809	10	0.27082	T	0.32	0.1209	1.1559	0.01796	0.4483:0.1589:0.2316:0.1611	.	693	P23276	KELL_HUMAN	I	693	ENSP00000347409:T693I	ENSP00000347409:T693I	T	-	2	0	KEL	142348582	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.139000	0.03213	-0.356000	0.08187	0.651000	0.88453	ACT	KEL	-	pfam_Peptidase_M13_C	ENSG00000197993		0.617	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	HGNC	protein_coding	OTTHUMT00000347671.2		0	61	0	G	NM_000420		142638460	-1			no_errors	ENST00000355265	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.000	A	A	142638460	G	A	142638460	3	1	169	1	0	0	0	0	1	0	0	0	8169	1029	36	3	124	3	KEL	7	142638460	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	43564359	142638460	16500203	72	42550											
SSPO	23145	genome.wustl.edu	37	chr7	149512264	149512264	+	RNA	SNP	C	C	A	0	0	0	1	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	ctgctttcttcctgcgtagaCtgcgggggtggccagagtct	4	12	14	11	2	2	2	0	0	2	2	3	2	3	2	2	3	3	2	2	3	1	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr7:149512264C>A	ENST00000378016.2	+	0	10584							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)			CCTGCGTAGACTGCGGGGGTG	0.657																																																	0													37	44	42					7																	149512264		2070	4190	6260			0			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.149512264C>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.657	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	28	0	C			149512264	1	tier1	-	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	6.58	71	5	SNP	1.000	A	A	149512264	C	A	149512264	1	1	169	0	1	0	0	0	0	0	0	0	15236	579	20	3		3	SSPO	7	149512264	RNA	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	6873804	149512264	9626399	73	42551											
NCAPG2	54892	genome.wustl.edu	37	chr7	158448144	158448144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaagtgactccagatCtgcctgtaatagaaaaaacc	15	8	8	10	0	1	4	0	1	1	3	2	4	2	4	3	0	3	2	3	0	6	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr7:158448144C>A	ENST00000409423.1	-	21	2564	c.2392G>T	c.(2392-2394)Gat>Tat	p.D798Y	NCAPG2_ENST00000541468.1_Missense_Mutation_p.D299Y|NCAPG2_ENST00000356309.3_Missense_Mutation_p.D798Y|NCAPG2_ENST00000409339.3_Missense_Mutation_p.D798Y|NCAPG2_ENST00000449727.2_Missense_Mutation_p.D798Y|NCAPG2_ENST00000275830.10_Missense_Mutation_p.D590Y	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	798					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)		GACTCCAGATCTGCCTGTAAT	0.572																																																	0													63	72	69					7																	158448144		2041	4191	6232	SO:0001583	missense	0			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.2392G>T	7.37:g.158448144C>A	ENSP00000386569:p.Asp798Tyr		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	pfam_Condensin2_G2,superfamily_ARM-type_fold	p.D798Y	ENST00000409423.1	37	c.2392	CCDS43686.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.02|11.02	1.514826|1.514826	0.27123|0.27123	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98;0.98|.	5.33|5.33	4.45|4.45	0.53987|0.53987	.|.	0.349218|.	0.31721|.	N|.	0.007166|.	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	D;D;P;D|.	0.63880|.	0.989;0.993;0.954;0.983|.	P;P;P;P|.	0.61477|.	0.532;0.889;0.69;0.663|.	T|T	0.24835|0.24835	-1.0149|-1.0149	10|5	0.52906|.	T|.	0.07|.	-15.4428|-15.4428	10.5835|10.5835	0.45269|0.45269	0.0:0.845:0.0:0.155|0.0:0.845:0.0:0.155	.|.	798;241;590;798|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	Y|H	299;798;798;590;798;241;798|599	ENSP00000442337:D299Y;ENSP00000348657:D798Y;ENSP00000386569:D798Y;ENSP00000275830:D590Y;ENSP00000387007:D798Y;ENSP00000388326:D798Y|.	ENSP00000275830:D590Y|.	D|Q	-|-	1|3	0|2	NCAPG2|NCAPG2	158140905|158140905	0.486000|0.486000	0.25980|0.25980	0.158000|0.158000	0.22627|0.22627	0.193000|0.193000	0.23685|0.23685	1.147000|1.147000	0.31602|0.31602	1.261000|1.261000	0.44149|0.44149	0.561000|0.561000	0.74099|0.74099	GAT|CAG	NCAPG2	-	pfam_Condensin2_G2	ENSG00000146918		0.572	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	HGNC	protein_coding	OTTHUMT00000327111.1	-	0	34	0	C	NM_017760		158448144	-1	tier1	-	no_errors	ENST00000409339	ensembl	human	known	74_37	missense	36.74	136	79	SNP	0.030	A	A	158448144	C	A	158448144	3	1	169	1	0	0	0	0	1	0	0	0	10247	913	32	3	1075	3	NCAPG2	7	158448144	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	8935880	158448144	690519	74	42552											
MTMR9	66036	genome.wustl.edu	37	chr8	11163709	11163709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttctaggtaattatgcGaagtggtcagccactcactg	10	12	10	9	1	3	0	2	0	1	0	3	1	3	0	1	2	3	2	1	2	4	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr8:11163709G>T	ENST00000221086.3	+	5	1075	c.602G>T	c.(601-603)cGa>cTa	p.R201L	MTMR9_ENST00000526292.1_Missense_Mutation_p.R116L	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	201	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					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)		GTAATTATGCGAAGTGGTCAG	0.418																																																	0													69	63	65					8																	11163709		2203	4300	6503	SO:0001583	missense	0			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.602G>T	8.37:g.11163709G>T	ENSP00000221086:p.Arg201Leu		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom	p.R201L	ENST00000221086.3	37	c.602	CCDS5979.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.188917	0.94923	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.98164	-4.76;-4.76	5.54	5.54	0.83059	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.99405	0.9790	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98463	1.0597	10	0.87932	D	0	.	18.4741	0.90785	0.0:0.0:1.0:0.0	.	201	Q96QG7	MTMR9_HUMAN	L	201;116	ENSP00000221086:R201L;ENSP00000433239:R116L	ENSP00000221086:R201L	R	+	2	0	MTMR9	11201119	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.686000	0.98664	2.600000	0.87896	0.563000	0.77884	CGA	MTMR9	-	pfam_Myotubularin-like_Pase_dom	ENSG00000104643		0.418	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2	-	0	32	0	G	NM_015458		11163709	1	tier1	-	no_errors	ENST00000221086	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	11163709	G	T	11163709	3	4	169	1	0	0	0	0	1	0	0	0	9988	1058	37	2	620	2	MTMR9	8	11163709	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09		11163709	135200313	75	42553											
INTS10	55174	genome.wustl.edu	37	chr8	19677964	19677964	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggaacaatgcttcaacacgTtagaacgatcagaaatgttg	15	9	9	8	3	2	2	2	0	0	2	2	4	2	3	0	1	4	3	0	1	6	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr8:19677964T>A	ENST00000397977.3	+	4	774	c.376T>A	c.(376-378)Tta>Ata	p.L126I	INTS10_ENST00000521758.1_Intron	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	126					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)		CTTCAACACGTTAGAACGATC	0.403																																																	0													138	131	133					8																	19677964		1911	4130	6041	SO:0001583	missense	0			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.376T>A	8.37:g.19677964T>A	ENSP00000381064:p.Leu126Ile		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.L126I	ENST00000397977.3	37	c.376	CCDS6011.2	8	.	.	.	.	.	.	.	.	.	.	T	18.54	3.645369	0.67358	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.86	-5.19	0.02832	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	L	0.34521	1.04	0.35284	D	0.781572	D	0.67145	0.996	D	0.75484	0.986	T	0.65561	-0.6138	9	0.35671	T	0.21	-17.5803	18.1991	0.89832	0.0:0.7182:0.0:0.2818	.	126	Q9NVR2	INT10_HUMAN	I	126	.	ENSP00000381064:L126I	L	+	1	2	INTS10	19722244	0.000000	0.05858	0.008000	0.14137	0.986000	0.74619	-1.115000	0.03289	-0.760000	0.04677	0.533000	0.62120	TTA	INTS10	-	NULL	ENSG00000104613		0.403	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2	-	0	60	0	T	NM_018142		19677964	1	tier1	-	no_errors	ENST00000397977	ensembl	human	known	74_37	missense	8.42	87	8	SNP	0.005	A	A	19677964	T	A	19677964	3	1	169	1	0	0	0	0	1	0	0	0	7803	1722	60	5	390	5	INTS10	8	19677964	Missense_Mutation	SNP	T	TCGA-VR-A8EY-01A-11D-A36J-09	8514255	19677964	126686058	76	42554											
CA8	767	genome.wustl.edu	37	chr8	61135295	61135295	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtgagagagccttcataCacccagtaatcccgcagcag	12	7	10	12	1	1	2	1	1	0	1	2	3	2	2	3	1	3	3	3	1	2	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr8:61135295C>A	ENST00000317995.4	-	7	915	c.651G>T	c.(649-651)gtG>gtT	p.V217V	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	217					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)	AGCCTTCATACACCCAGTAAT	0.463																																																	0													108	98	101					8																	61135295		2203	4300	6503	SO:0001819	synonymous_variant	0			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.651G>T	8.37:g.61135295C>A			A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.V217	ENST00000317995.4	37	c.651	CCDS6174.1	8																																																																																			CA8	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000178538		0.463	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA8	HGNC	protein_coding	OTTHUMT00000383445.1	-	0	38	0	C			61135295	-1	tier1	-	no_errors	ENST00000317995	ensembl	human	known	74_37	silent	18.57	57	13	SNP	0.940	A	A	61135295	C	A	61135295	2	1	169	1	0	0	0	0	0	0	0	1	2530	465	17	3		3	CA8	8	61135295	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	41457331	61135295	85228727	77	42555											
BHLHE22	27319	genome.wustl.edu	37	chr8	65494014	65494014	+	Missense_Mutation	SNP	A	A	G	1	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	gtggcggtagcggtagcggcAgcggcggcagcagcagcagc	7	3	20	11	5	0	0	0	0	0	0	0	0	0	0	0	6	7	7	0	6	2	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr8:65494014A>G	ENST00000321870.1	+	1	1201	c.667A>G	c.(667-669)Agc>Ggc	p.S223G	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	223	Gly-rich.|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.G225_S226insG(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						cggtagcggcagcggcggcag	0.721																																					Colon(113;104 1586 2865 9855 18065)												1	Insertion - In frame(1)	prostate(1)											3	5	4					8																	65494014		1186	2585	3771	SO:0001583	missense	0			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.667A>G	8.37:g.65494014A>G	ENSP00000318799:p.Ser223Gly			Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S223G	ENST00000321870.1	37	c.667	CCDS6179.1	8	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.589800	0.00008	.	.	ENSG00000180828	ENST00000321870	T	0.76578	-1.03	1.69	-0.386	0.12466	.	.	.	.	.	T	0.50599	0.1625	N	0.08118	0	0.19300	N	0.999975	B	0.02656	0.0	B	0.01281	0.0	T	0.31916	-0.9926	9	0.11485	T	0.65	.	4.741	0.13012	0.2561:0.1785:0.5654:0.0	.	223	Q8NFJ8	BHE22_HUMAN	G	223	ENSP00000318799:S223G	ENSP00000318799:S223G	S	+	1	0	BHLHE22	65656568	0.000000	0.05858	0.503000	0.27626	0.026000	0.11368	-0.378000	0.07446	-0.113000	0.11958	-1.120000	0.02017	AGC	BHLHE22	-	NULL	ENSG00000180828		0.721	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE22	HGNC	protein_coding	OTTHUMT00000378549.1		0	10	0	A	NM_152414		65494014	1			no_errors	ENST00000321870	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.985	G	G	65494014	A	G	65494014	3	3	169	1	0	0	0	0	1	0	0	0	1423	188	7	4	669	4	BHLHE22	8	65494014	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	4358719	65494014	80870008	78	42556											
CSMD3	114788	genome.wustl.edu	37	chr8	113392631	113392631	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacactgatgtctgattgaAaatttagatacagattatta	17	14	6	4	0	1	5	0	3	1	2	1	5	1	5	0	0	2	0	0	0	7	6			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr8:113392631A>C	ENST00000297405.5	-	38	6330	c.6086T>G	c.(6085-6087)tTt>tGt	p.F2029C	CSMD3_ENST00000455883.2_Missense_Mutation_p.F1925C|CSMD3_ENST00000352409.3_Missense_Mutation_p.F1959C|CSMD3_ENST00000343508.3_Missense_Mutation_p.F1989C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2029	CUB 11. {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						GTCTGATTGAAAATTTAGATA	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													111	118	116					8																	113392631		2203	4293	6496	SO:0001583	missense	0			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.6086T>G	8.37:g.113392631A>C	ENSP00000297405:p.Phe2029Cys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.F2029C	ENST00000297405.5	37	c.6086	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956872	0.73902	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.64	5.64	0.86602	CUB (5);	0.000000	0.64402	D	0.000001	T	0.74997	0.3790	H	0.98612	4.28	0.50632	D	0.999884	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.84317	0.0514	10	0.49607	T	0.09	.	15.5045	0.75728	1.0:0.0:0.0:0.0	.	1925;2029;1989	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	1989;2029;1299;1925;1959	ENSP00000345799:F1989C;ENSP00000297405:F2029C;ENSP00000341558:F1299C;ENSP00000412263:F1925C;ENSP00000343124:F1959C	ENSP00000297405:F2029C	F	-	2	0	CSMD3	113461807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.043000	0.76572	2.144000	0.66660	0.482000	0.46254	TTT	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	61	0	A	NM_052900		113392631	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	25.69	81	28	SNP	1.000	C	C	113392631	A	C	113392631	3	2	169	1	0	0	0	0	1	0	0	0	3955	14	1	4	5173	4	CSMD3	8	113392631	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	47898617	113392631	32971391	79	42557											
ZNF707	286075	genome.wustl.edu	37	chr8	144776548	144776548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacacctgtgccgagtgcGgcaagtccttccggtggccc	5	8	12	16	3	0	0	0	0	0	0	2	1	2	0	6	3	3	1	6	3	2	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr8:144776548G>A	ENST00000532205.1	+	8	1863	c.964G>A	c.(964-966)Ggc>Agc	p.G322S	RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000532158.1_Missense_Mutation_p.G322S|ZNF707_ENST00000454097.1_Missense_Mutation_p.G322S|ZNF707_ENST00000418203.2_Missense_Mutation_p.G322S|ZNF707_ENST00000358656.4_Missense_Mutation_p.G322S			Q96C28	ZN707_HUMAN	zinc finger protein 707	322					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	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;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGCCGAGTGCGGCAAGTCCTT	0.637																																																	0													31	38	36					8																	144776548		2161	4275	6436	SO:0001583	missense	0			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"Zinc fingers, C2H2-type", "-"	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.964G>A	8.37:g.144776548G>A	ENSP00000436212:p.Gly322Ser		A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G322S	ENST00000532205.1	37	c.964	CCDS47932.1	8	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000358	0.74818	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	2.99	2.99	0.34606	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35364	0.0929	L	0.46670	1.46	0.40905	D	0.984185	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	T	0.07366	-1.0776	8	.	.	.	-11.6822	11.432	0.50047	0.0:0.0:1.0:0.0	.	247;322	B4DV46;Q96C28	.;ZN707_HUMAN	S	322	ENSP00000409029:G322S;ENSP00000351482:G322S;ENSP00000436250:G322S;ENSP00000436212:G322S;ENSP00000413215:G322S	.	G	+	1	0	ZNF707	144848536	1.000000	0.71417	0.698000	0.30274	0.530000	0.34684	5.147000	0.64851	1.478000	0.48253	0.563000	0.77884	GGC	ZNF707	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181135		0.637	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF707	HGNC	protein_coding	OTTHUMT00000382197.1	-	0	97	0	G	NM_173831		144776548	1	tier1	-	no_errors	ENST00000358656	ensembl	human	known	74_37	missense	13.51	192	30	SNP	0.997	A	A	144776548	G	A	144776548	3	1	169	1	0	0	0	0	1	0	0	0	18159	1116	39	1	978	1	ZNF707	8	144776548	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	31383917	144776548	1587474	80	42558											
C9orf24	84688	genome.wustl.edu	37	chr9	34381092	34381092	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cgcggcagctgctggttccgCgacagtgagttcagcatgtt	6	10	14	11	4	1	1	1	1	0	0	2	2	2	1	1	2	3	7	1	2	0	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr9:34381092C>T	ENST00000297623.2	-	5	708	c.510G>A	c.(508-510)tcG>tcA	p.S170S	C9orf24_ENST00000379126.3_Silent_p.S35S|C9orf24_ENST00000379127.1_Silent_p.S35S|C9orf24_ENST00000379124.1_Silent_p.S35S|C9orf24_ENST00000379133.3_Silent_p.S35S|C9orf24_ENST00000481295.1_5'Flank	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	170					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GCTGGTTCCGCGACAGTGAGT	0.662																																																	0													15	20	18					9																	34381092		2199	4298	6497	SO:0001819	synonymous_variant	0			BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"ciliated bronchial epithelium 1", "spermatid-specific manchette-related protein 1"					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.510G>A	9.37:g.34381092C>T			Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Silent	SNP	NULL	p.S170	ENST00000297623.2	37	c.510	CCDS6554.1	9																																																																																			C9orf24	-	NULL	ENSG00000164972		0.662	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf24	HGNC	protein_coding	OTTHUMT00000001098.3	-	0	13	0	C	NM_147169		34381092	-1	tier1	-	no_errors	ENST00000297623	ensembl	human	known	74_37	silent	42.86	28	21	SNP	0.397	T	T	34381092	C	T	34381092	2	4	169	1	0	0	0	0	0	0	0	1	2482	755	27	1		1	C9orf24	9	34381092	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09		34381092	106832339	81	42559											
RGP1	57704	genome.wustl.edu	37	chr9	35751659	35751659	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggccgagggaaagttGggacgtttggcatcttcaaa	10	10	15	6	2	2	1	1	1	1	0	2	4	2	3	1	4	0	3	1	4	2	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr9:35751659G>T	ENST00000378103.3	-	0	0				GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000378078.4_Missense_Mutation_p.G224W|RGP1_ENST00000456972.2_Missense_Mutation_p.G264W|MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000378094.4_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)			AGGGAAAGTTGGGACGTTTGG	0.488																																																	0													114	113	113					9																	35751659		1963	4157	6120	SO:0001631	upstream_gene_variant	0			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.35751659G>T	Exception_encountered		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	pfam_Rgp1	p.G264W	ENST00000378103.3	37	c.790	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932124	0.73442	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.58	4.69	0.59074	.	0.049496	0.85682	D	0.000000	T	0.76709	0.4025	M	0.69358	2.11	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.79434	-0.1805	9	0.87932	D	0	-16.5415	13.7503	0.62904	0.0739:0.0:0.9261:0.0	.	224;224	Q92546;A8K0K1	RGP1_HUMAN;.	W	264;224	.	ENSP00000367318:G224W	G	+	1	0	RGP1	35741659	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.655000	0.91098	1.368000	0.46115	0.555000	0.69702	GGG	RGP1	-	pfam_Rgp1	ENSG00000107185		0.488	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGP1	HGNC	protein_coding	OTTHUMT00000055456.1	-	0	57	0	G	NM_020944		35751659	1	tier1	-	no_errors	ENST00000456972	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	35751659	G	T	35751659	1	4	169	0	1	0	0	0	0	0	0	0	13329	1348	47	3		3	RGP1	9	35751659	5'Flank	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	1370567	35751659	105461772	82	42560											
TJP2	9414	genome.wustl.edu	37	chr9	71869138	71869138	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttagttccagaccccctGagccacagaaagctccttcc	9	10	7	15	0	0	3	0	1	0	2	3	3	3	3	6	0	2	3	6	0	2	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr9:71869138G>T	ENST00000377245.4	+	23	3629	c.3421G>T	c.(3421-3423)Gag>Tag	p.E1141*	TJP2_ENST00000535702.1_Nonsense_Mutation_p.E1108*|TJP2_ENST00000348208.4_Nonsense_Mutation_p.E994*|TJP2_ENST00000453658.2_Nonsense_Mutation_p.E971*|TJP2_ENST00000539225.1_Nonsense_Mutation_p.E1172*	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1141					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						CAGACCCCCTGAGCCACAGAA	0.542																																																	0													122	119	120					9																	71869138		2203	4300	6503	SO:0001587	stop_gained	0			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.3421G>T	9.37:g.71869138G>T	ENSP00000366453:p.Glu1141*		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Nonsense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens	p.E1172*	ENST00000377245.4	37	c.3514	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.787973	0.98489	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000535702;ENST00000539225	.	.	.	5.79	5.79	0.91817	.	0.060203	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	.	.	.	X	971;1141;994;1108;1172	.	ENSP00000345893:E994X	E	+	1	0	TJP2	71058958	1.000000	0.71417	0.952000	0.39060	0.106000	0.19336	6.723000	0.74742	2.731000	0.93534	0.650000	0.86243	GAG	TJP2	-	NULL	ENSG00000119139		0.542	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	-	0	57	0	G	NM_201629		71869138	1	tier1	-	no_errors	ENST00000539225	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	T	T	71869138	G	T	71869138	4	4	169	1	0	0	0	0	0	1	0	0	15977	1291	45	3	3770	3	TJP2	9	71869138	Nonsense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	36117479	71869138	69344293	83	42561											
SPTLC1	10558	genome.wustl.edu	37	chr9	94842356	94842356	+	Silent	SNP	T	T	C	0	1	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	acgccatacttctttagagaTgctaaagctgctgcctttat	10	14	7	10	1	1	1	0	0	1	1	1	2	1	1	2	0	5	3	2	0	5	7			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr9:94842356T>C	ENST00000262554.2	-	5	374	c.369A>G	c.(367-369)gcA>gcG	p.A123A	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Silent_p.A123A	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	123					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)	TCTTTAGAGATGCTAAAGCTG	0.353																																																	0													84	82	82					9																	94842356		2203	4300	6503	SO:0001819	synonymous_variant	0			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.369A>G	9.37:g.94842356T>C			A8K681|Q5VWB4|Q96IX6	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.A123	ENST00000262554.2	37	c.369	CCDS6692.1	9																																																																																			SPTLC1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000090054		0.353	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	-	0	30	0	T	NM_006415		94842356	-1	tier1	-	no_errors	ENST00000262554	ensembl	human	known	74_37	silent	44.74	21	17	SNP	0.921	C	C	94842356	T	C	94842356	2	2	169	1	0	0	0	0	0	0	0	1	15170	1451	51	4		4	SPTLC1	9	94842356	Silent	SNP	T	TCGA-VR-A8EY-01A-11D-A36J-09	22973218	94842356	46371075	84	42562											
ZFP37	7539	genome.wustl.edu	37	chr9	115806537	115806537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcaagctggtcatcatCtttctggacttctaaaatgg	10	16	7	8	0	6	0	3	0	3	0	6	1	6	1	0	3	1	1	0	3	3	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr9:115806537C>A	ENST00000374227.3	-	4	388	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	ZFP37_ENST00000555206.1_Missense_Mutation_p.D122Y|ZFP37_ENST00000553380.1_Missense_Mutation_p.D136Y	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	121					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						TGGTCATCATCTTTCTGGACT	0.363																																																	0													63	71	68					9																	115806537		2102	3938	6040	SO:0001583	missense	0			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.361G>T	9.37:g.115806537C>A	ENSP00000363344:p.Asp121Tyr		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D136Y	ENST00000374227.3	37	c.406	CCDS6787.1	9	.	.	.	.	.	.	.	.	.	.	C	0.218	-1.030859	0.02045	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.06371	3.32;3.31;3.35	4.31	3.41	0.39046	.	0.155671	0.30356	N	0.009805	T	0.07503	0.0189	L	0.39898	1.24	0.30785	N	0.741549	D;D;D	0.59767	0.986;0.986;0.976	P;P;P	0.54100	0.742;0.742;0.556	T	0.01791	-1.1273	10	0.02654	T	1	-10.7831	6.7663	0.23568	0.0:0.7961:0.0:0.2039	.	122;136;121	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	Y	121;122;136	ENSP00000363344:D121Y;ENSP00000451310:D122Y;ENSP00000452552:D136Y	ENSP00000363344:D121Y	D	-	1	0	ZFP37	114846358	0.000000	0.05858	0.825000	0.32803	0.630000	0.37929	-0.286000	0.08399	1.425000	0.47237	0.655000	0.94253	GAT	ZFP37	-	NULL	ENSG00000136866		0.363	ZFP37-001	KNOWN	basic|CCDS	protein_coding	ZFP37	HGNC	protein_coding	OTTHUMT00000055439.1	-	0	26	0	C	NM_003408		115806537	-1	tier1	-	no_errors	ENST00000553380	ensembl	human	known	74_37	missense	34.62	34	18	SNP	0.836	A	A	115806537	C	A	115806537	3	1	169	1	0	0	0	0	1	0	0	0	17696	913	32	3	1535	3	ZFP37	9	115806537	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	20964181	115806537	25406894	85	42563											
TNC	3371	genome.wustl.edu	37	chr9	117822230	117822230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtccagttgagtctgaggCcatcccagccaacctcagac	9	7	10	15	1	2	3	1	2	1	1	4	3	4	3	5	2	2	1	5	2	1	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr9:117822230C>T	ENST00000350763.4	-	14	4496	c.4085G>A	c.(4084-4086)gGc>gAc	p.G1362D	TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.G1271D|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.G1362D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1362	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAGTCTGAGGCCATCCCAGCC	0.498																																																	0													61	48	52					9																	117822230		2203	4300	6503	SO:0001583	missense	0				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.4085G>A	9.37:g.117822230C>T	ENSP00000265131:p.Gly1362Asp		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.G1362D	ENST00000350763.4	37	c.4085	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424147	0.62733	.	.	ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613	T;T;T	0.56776	0.44;0.44;0.44	5.43	3.48	0.39840	Fibronectin, type III (4);	0.353895	0.26582	N	0.023574	T	0.64338	0.2589	L	0.52011	1.625	0.80722	D	1	D;B	0.76494	0.999;0.01	D;B	0.76575	0.988;0.016	T	0.66160	-0.5993	10	0.66056	D	0.02	.	11.4752	0.50293	0.1097:0.6589:0.2313:0.0	.	1362;1362	E9PC84;P24821	.;TENA_HUMAN	D	1362;1271;1362	ENSP00000265131:G1362D;ENSP00000339553:G1271D;ENSP00000411406:G1362D	ENSP00000339553:G1271D	G	-	2	0	TNC	116862051	0.998000	0.40836	0.999000	0.59377	0.996000	0.88848	1.055000	0.30467	1.224000	0.43551	0.563000	0.77884	GGC	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.498	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0	56	0	C	NM_002160		117822230	-1	tier1	-	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.999	T	T	117822230	C	T	117822230	3	4	169	1	0	0	0	0	1	0	0	0	16317	739	26	3	2580	3	TNC	9	117822230	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	2015693	117822230	23391201	86	42564											
SLC2A6	11182	genome.wustl.edu	37	chr9	136340725	136340725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccagccagcgccacggcaGcaggaggcctgggggcgagg	8	1	19	13	3	0	0	0	0	0	0	0	2	0	1	4	6	4	2	4	6	0	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr9:136340725G>T	ENST00000371899.4	-	5	648	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	SLC2A6_ENST00000371897.4_Missense_Mutation_p.L191M|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	191					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGCCACGGCAGCAGGAGGCCT	0.667																																																	0													6	8	7					9																	136340725		2128	4200	6328	SO:0001583	missense	0			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.571C>A	9.37:g.136340725G>T	ENSP00000360966:p.Leu191Met		A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.L191M	ENST00000371899.4	37	c.571	CCDS6975.1	9	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515122	0.64634	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	T;T	0.61040	0.14;0.14	5.13	1.03	0.20045	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.168870	0.40302	N	0.001127	T	0.63861	0.2547	M	0.71920	2.185	0.34668	D	0.723435	D;D	0.56287	0.971;0.975	P;P	0.60609	0.736;0.877	T	0.68622	-0.5360	10	0.46703	T	0.11	.	4.2805	0.10831	0.1551:0.1259:0.5899:0.1291	.	191;191	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	M	191	ENSP00000360964:L191M;ENSP00000360966:L191M	ENSP00000360964:L191M	L	-	1	2	SLC2A6	135330546	0.702000	0.27816	0.998000	0.56505	0.968000	0.65278	0.856000	0.27818	1.156000	0.42514	0.491000	0.48974	CTG	SLC2A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000160326		0.667	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1		0	24	0	G	NM_017585		136340725	-1			no_errors	ENST00000371899	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.525	T	T	136340725	G	T	136340725	3	4	169	1	0	0	0	0	1	0	0	0	14594	962	34	3	976	3	SLC2A6	9	136340725	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	18518495	136340725	4872706	87	42565											
COL5A1	1289	genome.wustl.edu	37	chr9	137658326	137658326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggtatggacggccagccGgggccaaaaggaaatgtggt	11	5	17	8	3	0	0	0	0	0	0	0	2	0	2	3	7	1	1	3	7	4	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr9:137658326G>A	ENST00000371817.3	+	22	2529	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	705	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)		ACGGCCAGCCGGGGCCAAAAG	0.547																																																	0													81	75	77					9																	137658326		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2115G>A	9.37:g.137658326G>A			Q15094|Q5SUX4	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P705	ENST00000371817.3	37	c.2115	CCDS6982.1	9																																																																																			COL5A1	-	NULL	ENSG00000130635		0.547	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	56	0	G	NM_000093		137658326	1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	silent	5.41	103	6	SNP	0.007	A	A	137658326	G	A	137658326	2	1	169	1	0	0	0	0	0	0	0	1	3703	1103	39	1		1	COL5A1	9	137658326	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	1317601	137658326	3555105	88	42566											
NOTCH1	4851	genome.wustl.edu	37	chr9	139413042	139413042	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgggcctcaaggcactcaCctgtgcggccatggggacac	7	6	13	15	1	2	0	2	0	0	0	2	1	2	1	4	5	1	1	4	5	1	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr9:139413042C>T	ENST00000277541.6	-	6	1175		c.e6+1		MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AAGGCACTCACCTGTGCGGCC	0.657			"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													19	23	21					9																	139413042		2171	4280	6451	SO:0001630	splice_region_variant	0			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.1099+1G>A	9.37:g.139413042C>T			Q59ED8|Q5SXM3	Splice_Site	SNP	-	e6+1	ENST00000277541.6	37	c.1099+1	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291297	0.59976	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.731	0.69383	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH1	138532863	1.000000	0.71417	0.944000	0.38274	0.567000	0.35839	7.013000	0.76373	2.257000	0.74773	0.561000	0.74099	.	NOTCH1	-	-	ENSG00000148400		0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	50	0	C	NM_017617	Intron	139413042	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	splice_site	81.95	23	109	SNP	1.000	T	T	139413042	C	T	139413042	5	4	169	1	0	0	0	0	0	0	1	0	10586	521	18	3	6683	3	NOTCH1	9	139413042	Splice_Site	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	1754716	139413042	1800389	89	42567											
FRMPD2	143162	genome.wustl.edu	37	chr10	49395321	49395321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactcttcagctgctccCggccagtgcaggggctgccg	5	7	14	15	2	2	0	1	0	1	0	3	0	3	0	3	4	4	5	3	4	0	1	rs142488456		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr10:49395321C>A	ENST00000374201.3	-	17	2482	c.2180G>T	c.(2179-2181)cGg>cTg	p.R727L	FRMPD2_ENST00000305531.3_Missense_Mutation_p.R702L|FRMPD2_ENST00000407470.4_Missense_Mutation_p.R695L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	727			R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGCTGCTCCCGGCCAGTGCA	0.572																																																	0													59	54	56					10																	49395321		2203	4300	6503	SO:0001583	missense	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2180G>T	10.37:g.49395321C>A	ENSP00000363317:p.Arg727Leu		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.R727L	ENST00000374201.3	37	c.2180	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	C	8.958	0.969834	0.18659	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.64438	-0.05;-0.09;-0.1	4.06	-8.12	0.01078	.	.	.	.	.	T	0.41236	0.1150	L	0.27053	0.805	0.09310	N	1	B;B;B	0.26318	0.146;0.007;0.146	B;B;B	0.22601	0.04;0.003;0.04	T	0.24584	-1.0156	9	0.30078	T	0.28	.	10.3274	0.43801	0.0:0.1389:0.186:0.6751	.	702;727;695	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	L	727;702;695	ENSP00000363317:R727L;ENSP00000307079:R702L;ENSP00000384339:R695L	ENSP00000307079:R702L	R	-	2	0	FRMPD2	49065327	0.000000	0.05858	0.000000	0.03702	0.855000	0.48748	-4.405000	0.00239	-3.053000	0.00259	-0.123000	0.14984	CGG	FRMPD2	-	NULL	ENSG00000170324		0.572	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	-	0	33	0	C	NM_152428		49395321	-1	tier1	-	no_errors	ENST00000374201	ensembl	human	known	74_37	missense	39.22	31	20	SNP	0.000	A	A	49395321	C	A	49395321	3	1	169	1	0	0	0	0	1	0	0	0	6082	652	23	2	1801	2	FRMPD2	10	49395321	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09		49395321	86139426	90	42568											
ASAH2	56624	genome.wustl.edu	37	chr10	51974561	51974561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actctcctgtgttgatgcaaCgtggtccaagaatgttgggg	8	12	13	8	1	1	2	0	1	1	1	3	2	2	2	2	3	2	3	2	3	3	2	rs549196716		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr10:51974561C>T	ENST00000395526.4	-	8	1081	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	ASAH2_ENST00000447815.1_Missense_Mutation_p.R361H|ASAH2_ENST00000443575.1_Missense_Mutation_p.R203H|ASAH2_ENST00000329428.6_Missense_Mutation_p.R342H	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	361					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)	p.R342H(1)|p.R361H(1)		large_intestine(1)|lung(9)|urinary_tract(1)	11						GTTGATGCAACGTGGTCCAAG	0.448													C|||	1	0.000199681	0	0	5008	,	,		12025	0		0.001	False		,,,				2504	0																2	Substitution - Missense(2)	urinary_tract(2)											64	40	48					10																	51974561		2202	4293	6495	SO:0001583	missense	0			AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.1082G>A	10.37:g.51974561C>T	ENSP00000378897:p.Arg361His		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	pfam_Ceramidase_alk	p.R361H	ENST00000395526.4	37	c.1082	CCDS7239.2	10	.	.	.	.	.	.	.	.	.	.	C	6.257	0.415597	0.11870	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000443575;ENST00000329428	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.26	-2.01	0.07410	.	0.739215	0.13790	N	0.362544	T	0.11922	0.0290	N	0.00879	-1.12	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.36261	-0.9755	10	0.14252	T	0.57	.	9.5371	0.39229	0.0:0.4674:0.0:0.5326	.	361;361	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	H	361;361;203;342	ENSP00000378897:R361H;ENSP00000388206:R361H;ENSP00000392766:R203H;ENSP00000329886:R342H	ENSP00000329886:R342H	R	-	2	0	ASAH2	51644567	0.000000	0.05858	0.051000	0.19133	0.884000	0.51177	-0.097000	0.11042	-0.315000	0.08703	-1.006000	0.02489	CGT	ASAH2	-	pfam_Ceramidase_alk	ENSG00000188611		0.448	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH2	HGNC	protein_coding	OTTHUMT00000048061.3	-	0	106	0	C	NM_019893		51974561	-1	tier1	-	no_errors	ENST00000395526	ensembl	human	known	74_37	missense	34.11	85	44	SNP	0.058	T	T	51974561	C	T	51974561	3	4	169	1	0	0	0	0	1	0	0	0	1008	536	19	1	1312	1	ASAH2	10	51974561	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	2579240	51974561	83560186	91	42569											
NDST2	8509	genome.wustl.edu	37	chr10	75566417	75566417	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatccaagggtctcaccaGagcaaactgtttgttgagcc	11	9	11	10	0	1	3	1	1	1	2	3	4	2	3	3	1	3	3	3	1	2	2	rs534521520		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr10:75566417G>C	ENST00000309979.6	-	5	1802	c.1246C>G	c.(1246-1248)Ctg>Gtg	p.L416V	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.L416V|NDST2_ENST00000299641.4_Missense_Mutation_p.L293V			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	416	Heparan sulfate N-deacetylase 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)					GGTCTCACCAGAGCAAACTGT	0.517													G|||	1	0.000199681	0	0	5008	,	,		20821	0		0	False		,,,				2504	0.001																0													104	100	101					10																	75566417		2203	4300	6503	SO:0001583	missense	0			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.1246C>G	10.37:g.75566417G>C	ENSP00000310657:p.Leu416Val		Q2TB32|Q59H89	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L416V	ENST00000309979.6	37	c.1246	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.444258	0.01089	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.43294	1.27;0.95	5.5	3.53	0.40419	.	0.415166	0.24147	N	0.041104	T	0.16769	0.0403	N	0.08118	0	0.30354	N	0.784467	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.15052	0.006;0.012;0.006	T	0.31280	-0.9949	10	0.02654	T	1	.	5.827	0.18558	0.1915:0.3256:0.4829:0.0	.	293;86;416	B4E139;B4DQU1;P52849	.;.;NDST2_HUMAN	V	416;293	ENSP00000310657:L416V;ENSP00000299641:L293V	ENSP00000299641:L293V	L	-	1	2	NDST2	75236423	0.898000	0.30612	1.000000	0.80357	0.942000	0.58702	0.780000	0.26760	0.574000	0.29417	0.491000	0.48974	CTG	NDST2	-	pfam_Heparan_SO4_deacetylase	ENSG00000166507		0.517	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	-	0	37	0	G	NM_003635		75566417	-1	tier1	-	no_errors	ENST00000309979	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.998	C	C	75566417	G	C	75566417	3	2	169	1	0	0	0	0	1	0	0	0	10295	933	33	5	1449	5	NDST2	10	75566417	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	23591856	75566417	59968330	92	42570											
KCNMA1	3778	genome.wustl.edu	37	chr10	79397159	79397159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	accacatgcgttggccccggCtgtcgcacggcacctccatg	6	7	11	17	4	0	0	0	0	0	0	2	0	1	0	5	3	1	4	5	3	0	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr10:79397159C>A	ENST00000286628.8	-	1	241	c.242G>T	c.(241-243)aGc>aTc	p.S81I	KCNMA1_ENST00000354353.5_Missense_Mutation_p.S81I|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S81I|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S81I|KCNMA1_ENST00000481070.1_Missense_Mutation_p.S81I|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S81I|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S81I|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S81I|KCNMA1_ENST00000480683.1_Missense_Mutation_p.S81I|KCNMA1_ENST00000286627.5_Missense_Mutation_p.S81I	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	81					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)	TTGGCCCCGGCTGTCGCACGG	0.602																																																	0													67	59	62					10																	79397159		2203	4300	6503	SO:0001583	missense	0			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.242G>T	10.37:g.79397159C>A	ENSP00000286628:p.Ser81Ile		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.S81I	ENST00000286628.8	37	c.242		10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.73|18.73|18.73	3.687244|3.687244|3.687244	0.68157|0.68157|0.68157	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372421|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857	.|.|T;T;T;T;T;T;T;T;T;T	.|.|0.47177	.|.|0.85;0.85;0.85;0.85;0.85;0.85;0.96;0.85;0.85;0.85	3.68|3.68|3.68	2.65|2.65|2.65	0.31530|0.31530|0.31530	.|.|.	.|.|0.145767	.|.|0.47852	.|.|U	.|.|0.000204	T|T|T	0.44371|0.44371|0.44371	0.1290|0.1290|0.1290	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.34664|0.34664|0.34664	D|D|D	0.72299|0.72299|0.72299	.|.|B;D;B;B;B;B;B	.|.|0.54207	.|.|0.037;0.965;0.286;0.409;0.286;0.404;0.286	.|.|B;D;B;B;B;B;B	.|.|0.66716	.|.|0.015;0.946;0.322;0.419;0.322;0.128;0.322	T|T|T	0.55780|0.55780|0.55780	-0.8087|-0.8087|-0.8087	5|5|10	.|.|0.66056	.|.|D	.|.|0.02	-5.7358|-5.7358|-5.7358	6.489|6.489|6.489	0.22105|0.22105|0.22105	0.1815:0.7215:0.0:0.097|0.1815:0.7215:0.0:0.097|0.1815:0.7215:0.0:0.097	.|.|.	.|.|81;81;81;81;81;81;81	.|.|D5MRH1;Q12791-6;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7	.|.|.;.;.;.;KCMA1_HUMAN;.;.	S|H|I	32|69|81;18;16;55;18;81;81;55;81;81;81	.|.|ENSP00000361517:S81I;ENSP00000361485:S18I;ENSP00000361514:S16I;ENSP00000396608:S55I;ENSP00000361520:S81I;ENSP00000286627:S81I;ENSP00000286628:S55I;ENSP00000385552:S81I;ENSP00000346321:S81I;ENSP00000385806:S81I	.|.|ENSP00000286627:S81I	A|Q|S	-|-|-	1|3|2	0|2|0	KCNMA1|KCNMA1|KCNMA1	79067165|79067165|79067165	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	2.542000|2.542000|2.542000	0.45744|0.45744|0.45744	1.987000|1.987000|1.987000	0.57996|0.57996|0.57996	0.455000|0.455000|0.455000	0.32223|0.32223|0.32223	GCC|CAG|AGC	KCNMA1	-	NULL	ENSG00000156113		0.602	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0	54	0	C	NM_002247		79397159	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	79397159	C	A	79397159	3	1	169	1	0	0	0	0	1	0	0	0	8100	797	28	3	3752	3	KCNMA1	10	79397159	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	3830742	79397159	56137588	93	42571											
ENTPD1	953	genome.wustl.edu	37	chr10	97604276	97604276	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagggttctggatgtggtgGagaggagcctcagcaactac	10	8	15	8	0	2	1	1	0	1	1	2	4	2	3	1	5	4	2	1	5	2	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr10:97604276G>T	ENST00000371205.4	+	5	740	c.457G>T	c.(457-459)Gag>Tag	p.E153*	ENTPD1_ENST00000453258.2_Nonsense_Mutation_p.E160*|ENTPD1_ENST00000371203.5_Nonsense_Mutation_p.E15*|ENTPD1_ENST00000539125.1_Nonsense_Mutation_p.E15*|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000543964.1_Nonsense_Mutation_p.E45*|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Nonsense_Mutation_p.E165*			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	153					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGATGTGGTGGAGAGGAGCCT	0.443																																																	0													167	161	163					10																	97604276		2203	4300	6503	SO:0001587	stop_gained	0			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.457G>T	10.37:g.97604276G>T	ENSP00000360248:p.Glu153*		A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Nonsense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.E165*	ENST00000371205.4	37	c.493	CCDS7444.1	10	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066924	0.55539	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	.	.	.	6.07	-10.9	0.00192	.	1.204120	0.05671	N	0.588648	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	0.1224	7.5347	0.27704	0.1634:0.0:0.344:0.4927	.	.	.	.	X	160;160;165;45;15;15;153	.	ENSP00000360246:E15X	E	+	1	0	ENTPD1	97594266	0.240000	0.23847	0.000000	0.03702	0.037000	0.13140	0.314000	0.19432	-2.012000	0.00950	-0.302000	0.09304	GAG	ENTPD1	-	pfam_GDA1_CD39_NTPase	ENSG00000138185		0.443	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD1	HGNC	protein_coding	OTTHUMT00000049566.1	-	0	75	0	G	NM_001776		97604276	1	tier1	-	no_errors	ENST00000371207	ensembl	human	known	74_37	nonsense	28.97	76	31	SNP	0.001	T	T	97604276	G	T	97604276	4	4	169	1	0	0	0	0	0	1	0	0	5154	1175	41	3	572	3	ENTPD1	10	97604276	Nonsense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	18207117	97604276	37930471	94	42572											
C10orf2	56652	genome.wustl.edu	37	chr10	102753223	102753224	+	Frame_Shift_Ins	INS	-	-	C																															tgagatttgctcaggccaggINScccccactcccgaccagcca																										TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr10:102753223_102753224insC	ENST00000311916.2	+	5	2196_2197	c.2011_2012insC	c.(2011-2013)gccfs	p.A671fs	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	671					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTCAGGCCAGGCCCCCACTCCC	0.54																																																	0																																										SO:0001589	frameshift_variant	0			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.2016dupC	10.37:g.102753228_102753228dupC	ENSP00000309595:p.Ala671fs		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Frame_Shift_Ins	INS	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C	p.T673fs	ENST00000311916.2	37	c.2011_2012	CCDS7506.1	10																																																																																			C10orf2	-	NULL	ENSG00000107815		0.54	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1		0	44	0	-	NM_021830		102753224	1	tier1		no_errors	ENST00000311916	ensembl	human	known	74_37	frame_shift_ins	21.62	29	8	INS	0.001:0.000	C	C	102753224	-	C	102753223	7	5	169	1	0	1	1	0	0	0	0	0	1602	1203	42	0	2044	0	C10orf2	10	102753223	Frame_Shift_Ins	INS	-	TCGA-VR-A8EY-01A-11D-A36J-09	5148947	102753223	32781524	95	42573											
ZDHHC6	64429	genome.wustl.edu	37	chr10	114205005	114205005	+	Missense_Mutation	SNP	A	A	C	1	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	ataaagaatcatgacagtccAatttatcaacatgatgaaat	19	11	5	6	0	2	4	2	3	0	1	3	4	3	4	1	0	1	0	1	0	7	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr10:114205005A>C	ENST00000369405.3	-	2	613	c.190T>G	c.(190-192)Tgg>Ggg	p.W64G	VTI1A_ENST00000393077.2_5'Flank|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.W64G|VTI1A_ENST00000432306.1_5'Flank	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	64					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)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ATGACAGTCCAATTTATCAAC	0.408																																																	0													108	95	100					10																	114205005		2203	4300	6503	SO:0001583	missense	0			AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"Zinc fingers, DHHC-type"	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.190T>G	10.37:g.114205005A>C	ENSP00000358413:p.Trp64Gly		D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase	p.W64G	ENST00000369405.3	37	c.190	CCDS7574.1	10	.	.	.	.	.	.	.	.	.	.	A	14.10	2.433362	0.43224	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.64991	0.6;-0.13	6.08	4.94	0.65067	.	0.125317	0.64402	D	0.000019	T	0.73946	0.3652	M	0.61703	1.905	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.63877	0.919;0.782	T	0.75116	-0.3431	10	0.54805	T	0.06	-45.8442	13.3535	0.60615	0.8683:0.1317:0.0:0.0	.	64;64	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	G	64	ENSP00000358413:W64G;ENSP00000358412:W64G	ENSP00000358412:W64G	W	-	1	0	ZDHHC6	114194995	1.000000	0.71417	0.973000	0.42090	0.281000	0.26958	9.040000	0.93783	1.101000	0.41535	-0.313000	0.08912	TGG	ZDHHC6	-	NULL	ENSG00000023041		0.408	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC6	HGNC	protein_coding	OTTHUMT00000050393.1		0	52	0	A	NM_022494		114205005	-1			no_errors	ENST00000369405	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	C	C	114205005	A	C	114205005	3	2	169	1	0	0	0	0	1	0	0	0	17667	130	5	4	1091	4	ZDHHC6	10	114205005	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	11451782	114205005	21329742	96	42574											
CTBP2	1488	genome.wustl.edu	37	chr10	126678262	126678262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacacccacgatgcctggcGgatatctaaggaacacacag	13	5	9	14	2	1	0	0	0	1	0	1	3	1	2	3	3	2	0	3	3	3	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr10:126678262G>T	ENST00000337195.5	-	11	1562	c.1163C>A	c.(1162-1164)cCg>cAg	p.P388Q	CTBP2_ENST00000309035.6_Missense_Mutation_p.P928Q|CTBP2_ENST00000494626.2_Missense_Mutation_p.P388Q|CTBP2_ENST00000334808.6_Missense_Mutation_p.P456Q|CTBP2_ENST00000531469.1_Missense_Mutation_p.P388Q|CTBP2_ENST00000411419.2_Missense_Mutation_p.P388Q	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	388					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)		GATGCCTGGCGGATATCTAAG	0.542																																																	0													44	46	45					10																	126678262		2203	4300	6503	SO:0001583	missense	0			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.1163C>A	10.37:g.126678262G>T	ENSP00000338615:p.Pro388Gln		A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.P928Q	ENST00000337195.5	37	c.2783	CCDS7643.1	10	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526918	0.44969	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.83506	-1.66;-1.66;-1.73;-1.66;-1.66;-1.66	5.09	5.09	0.68999	.	0.185952	0.47852	D	0.000215	D	0.85013	0.5600	L	0.43923	1.385	0.58432	D	0.999999	B;P;B	0.50943	0.012;0.94;0.191	B;P;B	0.52627	0.015;0.704;0.149	D	0.86276	0.1664	10	0.62326	D	0.03	.	18.6961	0.91601	0.0:0.0:1.0:0.0	.	388;928;456	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	Q	388;928;456;388;388;388	ENSP00000338615:P388Q;ENSP00000311825:P928Q;ENSP00000357816:P456Q;ENSP00000434630:P388Q;ENSP00000436285:P388Q;ENSP00000410474:P388Q	ENSP00000311825:P928Q	P	-	2	0	CTBP2	126668252	1.000000	0.71417	0.971000	0.41717	0.862000	0.49288	9.168000	0.94781	2.639000	0.89480	0.650000	0.86243	CCG	CTBP2	-	NULL	ENSG00000175029		0.542	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3		0	17	0	G	NM_001083914		126678262	-1			no_errors	ENST00000309035	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	126678262	G	T	126678262	3	4	169	1	0	0	0	0	1	0	0	0	4007	1116	39	2	178	2	CTBP2	10	126678262	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	12473257	126678262	8856485	97	42575											
GPR123	84435	genome.wustl.edu	37	chr10	134942261	134942261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaccactgcgccaagcGtgaggacgtgtggcagtgct	8	7	13	13	3	0	1	0	1	0	0	1	2	1	2	3	2	3	2	3	2	1	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr10:134942261G>A	ENST00000392607.3	+	7	1365	c.929G>A	c.(928-930)cGt>cAt	p.R310H	GPR123_ENST00000392606.2_Missense_Mutation_p.R213H|GPR123_ENST00000607359.1_Missense_Mutation_p.R1029H	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	310					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)		TGCGCCAAGCGTGAGGACGTG	0.692																																																	0													40	32	35					10																	134942261		2192	4280	6472	SO:0001583	missense	0			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.929G>A	10.37:g.134942261G>A	ENSP00000376384:p.Arg310His		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.R1029H	ENST00000392607.3	37	c.3086	CCDS41580.1	10	.	.	.	.	.	.	.	.	.	.	.	33	5.248781	0.95305	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.58358	0.34	4.91	4.91	0.64330	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.48767	D	0.000163	T	0.71550	0.3353	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74999	-0.3472	10	0.72032	D	0.01	-41.945	15.9562	0.79889	0.0:0.0:1.0:0.0	.	310;1029	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	H	1029;310;214	ENSP00000376384:R310H	ENSP00000357566:R1029H	R	+	2	0	GPR123	134792251	1.000000	0.71417	0.984000	0.44739	0.877000	0.50540	9.218000	0.95166	2.442000	0.82660	0.561000	0.74099	CGT	GPR123	-	pfscan_GPCR_2-like	ENSG00000197177		0.692	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000051113.2	-	0	25	0	G			134942261	1	tier1	-	no_errors	ENST00000607359	ensembl	human	putative	74_37	missense	46.67	8	7	SNP	1.000	A	A	134942261	G	A	134942261	3	1	169	1	0	0	0	0	1	0	0	0	6663	1145	40	1	951	1	GPR123	10	134942261	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	8263999	134942261	592486	98	42576											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651393	1651393	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtggggtgtccaagggggCctgtggctcctgtggggggt	2	10	21	8	0	0	0	0	0	0	0	2	0	2	0	3	8	0	1	3	8	1	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr11:1651393C>G	ENST00000399676.2	+	1	361	c.323C>G	c.(322-324)gCc>gGc	p.A108G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	108	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.A108G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAAGGGGGCCTGTGGCTCC	0.687																																																	1	Substitution - Missense(1)	endometrium(1)											39	54	49					11																	1651393		2187	4284	6471	SO:0001583	missense	0			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.323C>G	11.37:g.1651393C>G	ENSP00000382584:p.Ala108Gly		A8MWN2	Missense_Mutation	SNP	NULL	p.A108G	ENST00000399676.2	37	c.323	CCDS41592.1	11	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.308300	0.01342	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.00882	5.58	2.6	1.66	0.24008	.	.	.	.	.	T	0.00271	0.0008	N	0.00018	-2.82	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.44726	-0.9309	9	0.30078	T	0.28	.	9.6754	0.40037	0.0:0.2169:0.783:0.0	.	108	Q701N2	KRA55_HUMAN	G	108;79	ENSP00000382584:A108G	ENSP00000382584:A108G	A	+	2	0	KRTAP5-5	1607969	0.020000	0.18652	1.000000	0.80357	0.027000	0.11550	-1.742000	0.01835	0.397000	0.25310	-0.701000	0.03672	GCC	KRTAP5-5	-	NULL	ENSG00000185940		0.687	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	HGNC	protein_coding	OTTHUMT00000127919.1		0	43	0	C			1651393	1			no_errors	ENST00000399676	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.949	G	G	1651393	C	G	1651393	3	3	169	1	0	0	0	0	1	0	0	0	8592	739	26	5	325	5	KRTAP5-5	11	1651393	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09		1651393	133355123	99	42577											
OR51G1	79324	genome.wustl.edu	37	chr11	4944691	4944691	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggtcttgatgctgtaGatgatggggttcataagggg	7	14	16	4	0	2	3	1	2	1	1	2	3	2	3	0	5	2	4	0	5	2	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr11:4944691G>T	ENST00000321961.2	-	1	946	c.879C>A	c.(877-879)atC>atA	p.I293I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATGCTGTAGATGATGGGGT	0.433																																																	0													169	155	160					11																	4944691		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.879C>A	11.37:g.4944691G>T			B9EGW8|Q6IFH6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I293	ENST00000321961.2	37	c.879	CCDS31366.1	11																																																																																			OR51G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000176879		0.433	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	HGNC	protein_coding	OTTHUMT00000142345.1		0	74	0	G	NM_001005237		4944691	-1			no_errors	ENST00000321961	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.994	T	T	4944691	G	T	4944691	2	4	169	1	0	0	0	0	0	0	0	1	11137	932	33	3		3	OR51G1	11	4944691	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	3293298	4944691	130061825	100	42578											
SLC17A6	57084	genome.wustl.edu	37	chr11	22363299	22363299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggtcaacaacagcaccatCcaccgcgggggcaaggtcat	12	5	11	13	2	2	0	2	0	0	0	3	0	3	0	3	4	3	2	3	4	3	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr11:22363299C>T	ENST00000263160.3	+	2	749	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	104					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACAGCACCATCCACCGCGGGG	0.607																																																	0													69	57	61					11																	22363299		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.312C>T	11.37:g.22363299C>T			A6NKS2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I104	ENST00000263160.3	37	c.312	CCDS7856.1	11																																																																																			SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000091664		0.607	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0	142	0	C	NM_020346		22363299	1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	silent	35.71	108	60	SNP	1.000	T	T	22363299	C	T	22363299	2	4	169	1	0	0	0	0	0	0	0	1	14466	845	30	3		3	SLC17A6	11	22363299	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	17418608	22363299	112643217	101	42579											
FOLH1	2346	genome.wustl.edu	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	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	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000533034.1_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	0			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	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL	ENSG00000086205		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	71	0	A	NM_004476		49204790	-1	tier1	rs76509850	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	G	G	49204790	A	G	49204790	2	3	169	1	0	0	0	0	0	0	0	1	6001	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	26841491	49204790	85801726	102	42580											
SLC22A10	387775	genome.wustl.edu	37	chr11	63078478	63078479	+	Splice_Site	INS	-	-	A																															gttttgttttgtttttccagINSaaaaaaaaatctcaaggaaa																								rs562147200	byFrequency	TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr11:63078478_63078479insA	ENST00000332793.6	+	10	1600_1601		c.e10-1		SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_Splice_Site|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Splice_Site	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10							integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	tgttttTCCAGAAAAAAAAATC	0.302																																																	0																																										SO:0001630	splice_region_variant	0			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1599-1->A	11.37:g.63078487_63078487dupA			Q68CJ0	Frame_Shift_Ins	INS	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.N537fs	ENST00000332793.6	37	c.1600_1599	CCDS41661.1	11																																																																																			SLC22A10	-	NULL	ENSG00000184999		0.302	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A10	HGNC	protein_coding	OTTHUMT00000382622.3		0	19	0	-	NM_001039752	Intron	63078479	1	tier1		no_errors	ENST00000332793	ensembl	human	known	74_37	frame_shift_ins	28.57	10	4	INS	0.014:0.007	A	A	63078479	-	A	63078478	8	5	169	1	0	1	1	0	0	0	1	0	14486	956	33	0	1636	0	SLC22A10	11	63078478	Splice_Site	INS	-	TCGA-VR-A8EY-01A-11D-A36J-09	13873688	63078478	71928038	103	42581											
FRMD8	83786	genome.wustl.edu	37	chr11	65172410	65172410	+	Missense_Mutation	SNP	A	A	G	1	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	agcccgcaggcccccaggacAgtgcgactggctcgccctcg	6	4	13	18	4	0	0	0	0	0	0	2	2	0	1	4	3	2	2	4	3	0	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr11:65172410A>G	ENST00000317568.5	+	10	1310	c.1147A>G	c.(1147-1149)Agt>Ggt	p.S383G	FRMD8_ENST00000355991.5_Missense_Mutation_p.S327G|FRMD8_ENST00000416776.2_Missense_Mutation_p.S349G	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	383						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						CCCCCAGGACAGTGCGACTGG	0.672																																																	0													34	36	35					11																	65172410		2201	4293	6494	SO:0001583	missense	0			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.1147A>G	11.37:g.65172410A>G	ENSP00000319726:p.Ser383Gly		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.S383G	ENST00000317568.5	37	c.1147	CCDS8102.1	11	.	.	.	.	.	.	.	.	.	.	A	9.435	1.086652	0.20390	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.82893	-1.66;-1.08;-1.66	4.96	-3.9	0.04181	.	1.693770	0.03013	N	0.149703	T	0.68842	0.3045	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13145	0.004;0.007;0.0	B;B;B	0.13407	0.006;0.009;0.0	T	0.49532	-0.8930	10	0.42905	T	0.14	1.9214	1.0744	0.01629	0.328:0.2833:0.2512:0.1375	.	349;327;383	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	G	383;327;349	ENSP00000319726:S383G;ENSP00000348270:S327G;ENSP00000392111:S349G	ENSP00000319726:S383G	S	+	1	0	FRMD8	64928986	0.004000	0.15560	0.000000	0.03702	0.037000	0.13140	0.749000	0.26320	-0.973000	0.03555	0.533000	0.62120	AGT	FRMD8	-	NULL	ENSG00000126391		0.672	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD8	HGNC	protein_coding	OTTHUMT00000388833.1	-	0	62	0	A	NM_031904		65172410	1	tier1	-	no_errors	ENST00000317568	ensembl	human	known	74_37	missense	25.38	147	50	SNP	0.000	G	G	65172410	A	G	65172410	3	3	169	1	0	0	0	0	1	0	0	0	6080	188	7	4	1181	4	FRMD8	11	65172410	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	2093932	65172410	69834106	104	42582											
PACS1	55690	genome.wustl.edu	37	chr11	66010644	66010644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcacccctagtgtccatcGatggggtcgagtggagtgac	7	10	14	10	2	1	1	1	1	0	0	4	4	2	2	3	3	0	0	3	3	1	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr11:66010644G>A	ENST00000320580.4	+	24	2818	c.2785G>A	c.(2785-2787)Gat>Aat	p.D929N	PACS1_ENST00000524815.1_Missense_Mutation_p.D57N|PACS1_ENST00000529757.1_Missense_Mutation_p.D465N|RP11-755F10.1_ENST00000531086.1_RNA	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	929					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						AGTGTCCATCGATGGGGTCGA	0.612																																																	0													98	77	84					11																	66010644		2200	4294	6494	SO:0001583	missense	0			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.2785G>A	11.37:g.66010644G>A	ENSP00000316454:p.Asp929Asn		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.D929N	ENST00000320580.4	37	c.2785	CCDS8129.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.479046|5.479046	0.96307|0.96307	.|.	.|.	ENSG00000175115|ENSG00000175115	ENST00000320580;ENST00000529757;ENST00000524815;ENST00000531597|ENST00000529677	T;T;T;T|.	0.63255|.	-0.03;-0.03;-0.03;-0.03|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.104254|.	0.64402|.	D|.	0.000005|.	T|T	0.78521|0.78521	0.4296|0.4296	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.80899|0.80899	-0.1176|-0.1176	10|5	0.87932|.	D|.	0|.	-1.8911|-1.8911	16.7348|16.7348	0.85444|0.85444	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	929|.	Q6VY07|.	PACS1_HUMAN|.	N|Q	929;465;57;57|72	ENSP00000316454:D929N;ENSP00000432858:D465N;ENSP00000433991:D57N;ENSP00000434012:D57N|.	ENSP00000316454:D929N|.	D|R	+|+	1|2	0|0	PACS1|PACS1	65767220|65767220	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.651000|9.651000	0.98493|0.98493	2.480000|2.480000	0.83734|0.83734	0.561000|0.561000	0.74099|0.74099	GAT|CGA	PACS1	-	pfam_Phosphofurin_acidic_CS-1	ENSG00000175115		0.612	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2	-	0	40	0	G	NM_018026		66010644	1	tier1	-	no_errors	ENST00000320580	ensembl	human	known	74_37	missense	46.97	35	31	SNP	1.000	A	A	66010644	G	A	66010644	3	1	169	1	0	0	0	0	1	0	0	0	11411	1058	37	1	2879	1	PACS1	11	66010644	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	838234	66010644	68995872	105	42583											
NPAS4	266743	genome.wustl.edu	37	chr11	66190167	66190167	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcctcttccgctgccgcttCaacacctccaagtccctcag	6	9	6	20	3	3	0	2	0	1	0	6	0	6	0	6	0	2	2	6	0	2	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr11:66190167C>T	ENST00000311034.2	+	4	629	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	151					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						GCTGCCGCTTCAACACCTCCA	0.557																																																	0													98	96	97					11																	66190167		2200	4295	6495	SO:0001819	synonymous_variant	0			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.453C>T	11.37:g.66190167C>T			B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.F151	ENST00000311034.2	37	c.453	CCDS8138.1	11																																																																																			NPAS4	-	superfamily_PAS	ENSG00000174576		0.557	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	-	0	23	0	C	NM_178864		66190167	1	tier1	-	no_errors	ENST00000311034	ensembl	human	known	74_37	silent	46.67	48	42	SNP	1.000	T	T	66190167	C	T	66190167	2	4	169	1	0	0	0	0	0	0	0	1	10604	825	29	3		3	NPAS4	11	66190167	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	179523	66190167	68816349	106	42584											
GDPD4	220032	genome.wustl.edu	37	chr11	76979559	76979559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcaacagctttctcaaagGacatcatggtattctcaggc	11	12	8	10	0	4	0	4	0	2	0	6	1	4	1	0	3	2	3	0	3	3	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr11:76979559G>T	ENST00000376217.2	-	9	900	c.650C>A	c.(649-651)tCc>tAc	p.S217Y	GDPD4_ENST00000527489.1_5'Flank|GDPD4_ENST00000315938.4_Missense_Mutation_p.S217Y			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	217	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TTTCTCAAAGGACATCATGGT	0.488																																																	0													183	180	181					11																	76979559		2200	4292	6492	SO:0001583	missense	0			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.650C>A	11.37:g.76979559G>T	ENSP00000365390:p.Ser217Tyr		Q7Z5B0	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.S217Y	ENST00000376217.2	37	c.650		11	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921512	0.73213	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.16073	2.37;2.37	4.68	4.68	0.58851	.	0.247574	0.42172	D	0.000743	T	0.51381	0.1671	H	0.94345	3.525	0.35546	D	0.803432	D	0.76494	0.999	D	0.65874	0.939	T	0.72717	-0.4209	10	0.87932	D	0	-5.8381	14.98	0.71303	0.0:0.0:1.0:0.0	.	217	Q6W3E5-2	.	Y	217	ENSP00000365390:S217Y;ENSP00000320815:S217Y	ENSP00000320815:S217Y	S	-	2	0	GDPD4	76657207	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.487000	0.73633	2.595000	0.87683	0.591000	0.81541	TCC	GDPD4	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000178795		0.488	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	HGNC	protein_coding	OTTHUMT00000382075.1	-	0	48	0	G	NM_182833		76979559	-1	tier1	-	no_errors	ENST00000376217	ensembl	human	known	74_37	missense	60.59	67	103	SNP	0.997	T	T	76979559	G	T	76979559	3	4	169	1	0	0	0	0	1	0	0	0	6352	1174	41	3	944	3	GDPD4	11	76979559	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	10789392	76979559	58026957	107	42585											
PEX5	5830	genome.wustl.edu	37	chr12	7344176	7344176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttttaagcccctggtgtgGcagacttggccttgtctgag	5	14	12	10	0	2	2	0	1	2	1	2	2	2	2	3	3	1	1	3	3	1	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr12:7344176G>A	ENST00000455147.2	+	6	908	c.328G>A	c.(328-330)Gca>Aca	p.A110T	PEX5_ENST00000434354.2_Missense_Mutation_p.A125T|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000266564.3_Missense_Mutation_p.A110T|PEX5_ENST00000266563.5_Missense_Mutation_p.A110T|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000420616.2_Missense_Mutation_p.A110T|PEX5_ENST00000412720.2_Missense_Mutation_p.A131T|RP11-273B20.3_ENST00000545794.1_RNA	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	110					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CCCTGGTGTGGCAGACTTGGC	0.458																																																	0													73	73	73					12																	7344176		2203	4300	6503	SO:0001583	missense	0			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.328G>A	12.37:g.7344176G>A	ENSP00000400647:p.Ala110Thr		A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A125T	ENST00000455147.2	37	c.373	CCDS44823.1	12	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492586	0.84962	.	.	ENSG00000139197	ENST00000536883;ENST00000542539;ENST00000455147;ENST00000266563;ENST00000543974;ENST00000434354;ENST00000545574;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000536841;ENST00000537873;ENST00000266564;ENST00000545845	D;D;D;D;D;D;D	0.88896	-2.39;-2.44;-2.4;-2.39;-2.37;-2.34;-2.41	4.04	4.04	0.47022	.	0.055818	0.64402	D	0.000001	D	0.92368	0.7578	L	0.52573	1.65	0.80722	D	1	D;P;P;P;D	0.89917	1.0;0.902;0.944;0.928;0.967	D;P;P;P;P	0.87578	0.998;0.546;0.66;0.671;0.744	D	0.92539	0.6040	10	0.48119	T	0.1	.	16.3705	0.83355	0.0:0.0:1.0:0.0	.	131;125;110;110;110	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	T	27;110;110;110;27;125;98;110;131;125;110;110;110;27	ENSP00000400647:A110T;ENSP00000266563:A110T;ENSP00000407401:A125T;ENSP00000410159:A110T;ENSP00000391601:A131T;ENSP00000379877:A125T;ENSP00000266564:A110T	ENSP00000266563:A110T	A	+	1	0	PEX5	7235443	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.292000	0.89930	2.075000	0.62263	0.491000	0.48974	GCA	PEX5	-	NULL	ENSG00000139197		0.458	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	-	0	49	0	G	NM_000319		7344176	1	tier1	-	no_errors	ENST00000434354	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	7344176	G	A	7344176	3	1	169	1	0	0	0	0	1	0	0	0	11787	1203	42	3	387	3	PEX5	12	7344176	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09		7344176	126507719	108	42586											
PLCZ1	89869	genome.wustl.edu	37	chr12	18872455	18872455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaataaaataatcatttaatGgatgagtcatatcttgataa	19	14	5	3	0	3	2	2	2	1	0	3	3	3	3	0	1	0	0	0	1	7	7			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr12:18872455G>T	ENST00000266505.7	-	5	742	c.479C>A	c.(478-480)cCa>cAa	p.P160Q	PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.P158Q|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000541695.1_Missense_Mutation_p.P23Q|RP11-361I14.2_ENST00000536931.1_RNA					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)					ATCATTTAATGGATGAGTCAT	0.299																																																	0													59	59	59					12																	18872455		2203	4284	6487	SO:0001583	missense	0			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	ENST00000266505.7:c.479C>A	12.37:g.18872455G>T	ENSP00000266505:p.Pro160Gln			Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.P160Q	ENST00000266505.7	37	c.479	CCDS8680.1	12	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611032	0.87258	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000541695;ENST00000541966	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.28	5.28	0.74379	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.94105	0.8110	H	0.98646	4.29	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96409	0.9303	10	0.87932	D	0	.	17.8805	0.88839	0.0:0.0:1.0:0.0	.	160	Q86YW0	PLCZ1_HUMAN	Q	160;158;23;56	ENSP00000266505:P160Q;ENSP00000402358:P158Q;ENSP00000443349:P23Q;ENSP00000444383:P56Q	ENSP00000266505:P160Q	P	-	2	0	PLCZ1	18763722	1.000000	0.71417	0.707000	0.30419	0.993000	0.82548	9.159000	0.94728	2.465000	0.83290	0.591000	0.81541	CCA	PLCZ1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C	ENSG00000139151		0.299	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401667.3		0	31	0	G	NM_033123		18872455	-1			no_errors	ENST00000266505	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	18872455	G	T	18872455	3	4	169	1	0	0	0	0	1	0	0	0	12083	1348	47	3	1391	3	PLCZ1	12	18872455	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	11528279	18872455	114979440	109	42587											
PDE3A	5139	genome.wustl.edu	37	chr12	20786713	20786713	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcggacaccaagtagaacagGtaattcattgttttggattc	12	13	9	7	1	1	1	1	0	0	1	3	3	1	3	1	3	1	3	1	3	4	7			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr12:20786713G>T	ENST00000359062.3	+	7	1886		c.e7+1		PDE3A_ENST00000544307.1_Splice_Site	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited						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)	AGTAGAACAGGTAATTCATTG	0.428																																																	0													64	61	62					12																	20786713		2203	4300	6503	SO:0001630	splice_region_variant	0				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.1846+1G>T	12.37:g.20786713G>T			O60865|Q13348|Q17RD1	Splice_Site	SNP	-	e7+1	ENST00000359062.3	37	c.1846+1	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014148	0.75161	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0454	0.89330	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE3A	20677980	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	6.630000	0.74272	2.793000	0.96121	0.650000	0.86243	.	PDE3A	-	-	ENSG00000172572		0.428	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	-	0	92	0	G		Intron	20786713	1	tier1	-	no_errors	ENST00000359062	ensembl	human	known	74_37	splice_site	6.49	72	5	SNP	1.000	T	T	20786713	G	T	20786713	5	4	169	1	0	0	0	0	0	0	1	0	11676	1275	44	3	1873	3	PDE3A	12	20786713	Splice_Site	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	1914258	20786713	113065182	110	42588											
BEST3	144453	genome.wustl.edu	37	chr12	70049532	70049532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcttatcatggaatgccGatggccatgcttctcataat	9	15	7	10	1	4	0	2	0	3	0	5	2	4	1	2	2	2	1	2	2	3	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr12:70049532G>A	ENST00000330891.5	-	10	1388	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	BEST3_ENST00000488961.1_Missense_Mutation_p.R175W|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R282W	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	388					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)			ATGGAATGCCGATGGCCATGC	0.537																																																	0													97	102	101					12																	70049532		2093	4226	6319	SO:0001583	missense	0			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.1162C>T	12.37:g.70049532G>A	ENSP00000332413:p.Arg388Trp		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.R388W	ENST00000330891.5	37	c.1162	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281498	0.40394	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98178	-4.41;-4.77;-4.73	5.63	4.7	0.59300	.	0.416527	0.24523	N	0.037786	D	0.98403	0.9469	M	0.68317	2.08	0.43930	D	0.996581	D;D	0.89917	1.0;1.0	D;D	0.64595	0.913;0.927	D	0.98310	1.0523	10	0.56958	D	0.05	-14.9986	13.9259	0.63961	0.0:0.0:0.8484:0.1516	.	388;175	Q8N1M1;B5MDI8	BEST3_HUMAN;.	W	175;388;282	ENSP00000433213:R175W;ENSP00000332413:R388W;ENSP00000449548:R282W	ENSP00000332413:R388W	R	-	1	2	BEST3	68335799	0.852000	0.29690	0.050000	0.19076	0.007000	0.05969	3.347000	0.52200	2.636000	0.89361	0.655000	0.94253	CGG	BEST3	-	NULL	ENSG00000127325		0.537	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2		0	28	0	G	NM_152439		70049532	-1			no_errors	ENST00000330891	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.072	A	A	70049532	G	A	70049532	3	1	169	1	0	0	0	0	1	0	0	0	1407	1057	37	1	848	1	BEST3	12	70049532	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	49262819	70049532	63802363	111	42589											
FGD6	55785	genome.wustl.edu	37	chr12	95546719	95546719	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactttctctgagctcatGatctccttggcaatatgatg	9	15	7	10	0	3	3	1	3	2	0	5	3	3	3	1	1	2	2	1	1	3	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr12:95546719G>T	ENST00000343958.4	-	4	2860	c.2637C>A	c.(2635-2637)atC>atA	p.I879I	FGD6_ENST00000546711.1_Silent_p.I879I|FGD6_ENST00000549499.1_Silent_p.I879I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	879	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTGAGCTCATGATCTCCTTGG	0.323																																																	0													172	169	170					12																	95546719		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2637C>A	12.37:g.95546719G>T			Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.I879	ENST00000343958.4	37	c.2637	CCDS31878.1	12																																																																																			FGD6	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000180263		0.323	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	-	0	78	0	G	NM_018351		95546719	-1	tier1	-	no_errors	ENST00000343958	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.999	T	T	95546719	G	T	95546719	2	4	169	1	0	0	0	0	0	0	0	1	5859	1280	45	3		3	FGD6	12	95546719	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	25497187	95546719	38305176	112	42590											
CUX2	23316	genome.wustl.edu	37	chr12	111785396	111785396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaccttgatccaagcggggGtcctggaatcctaccgccag	9	7	12	13	2	0	2	0	1	0	1	3	3	3	3	6	3	2	0	6	3	3	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr12:111785396G>A	ENST00000261726.6	+	22	3882	c.3728G>A	c.(3727-3729)gGt>gAt	p.G1243D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1243					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						CCAAGCGGGGGTCCTGGAATC	0.662																																																	0													57	67	64					12																	111785396		1902	4110	6012	SO:0001583	missense	0			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.3728G>A	12.37:g.111785396G>A	ENSP00000261726:p.Gly1243Asp		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.G1243D	ENST00000261726.6	37	c.3728	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415687	0.42817	.	.	ENSG00000111249	ENST00000261726	T	0.44482	0.92	5.78	4.89	0.63831	.	0.173828	0.39544	N	0.001340	T	0.29524	0.0736	L	0.29908	0.895	0.34977	D	0.753675	B	0.20887	0.049	B	0.18263	0.021	T	0.31971	-0.9924	10	0.14656	T	0.56	-6.8542	12.4835	0.55859	0.0805:0.0:0.9195:0.0	.	1243	O14529	CUX2_HUMAN	D	1243	ENSP00000261726:G1243D	ENSP00000261726:G1243D	G	+	2	0	CUX2	110269779	0.558000	0.26554	0.977000	0.42913	0.923000	0.55619	1.245000	0.32790	1.445000	0.47624	0.650000	0.86243	GGT	CUX2	-	NULL	ENSG00000111249		0.662	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	-	0	44	0	G	NM_015267		111785396	1	tier1	-	no_errors	ENST00000261726	ensembl	human	known	74_37	missense	31.48	37	17	SNP	0.991	A	A	111785396	G	A	111785396	3	1	169	1	0	0	0	0	1	0	0	0	4074	1261	44	3	3814	3	CUX2	12	111785396	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	16238677	111785396	22066499	113	42591											
NCOR2	9612	genome.wustl.edu	37	chr12	124914204	124914204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctctgacacctcgtgctcGctgcgggcggccgacatgga	6	8	13	14	5	1	1	0	1	1	0	4	3	1	2	2	3	2	2	2	3	0	0	rs369539019		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr12:124914204G>T	ENST00000405201.1	-	10	1104	c.1104C>A	c.(1102-1104)agC>agA	p.S368R	NCOR2_ENST00000404621.1_Missense_Mutation_p.S367R|NCOR2_ENST00000397355.1_Missense_Mutation_p.S368R|NCOR2_ENST00000429285.2_Missense_Mutation_p.S367R|NCOR2_ENST00000356219.3_Missense_Mutation_p.S368R|NCOR2_ENST00000404121.2_5'UTR			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	368					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)		CCTCGTGCTCGCTGCGGGCGG	0.662																																																	0													25	31	29					12																	124914204		2102	4221	6323	SO:0001583	missense	0			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.1104C>A	12.37:g.124914204G>T	ENSP00000384018:p.Ser368Arg		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S368R	ENST00000405201.1	37	c.1104	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	9.176	1.022266	0.19433	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698	T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81	3.4	-1.91	0.07641	.	0.187928	0.45126	D	0.000396	T	0.58323	0.2114	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.995;0.995;0.998	T	0.58399	-0.7643	10	0.87932	D	0	-20.2767	10.5393	0.45024	0.6903:0.0:0.3097:0.0	.	367;368;368	C9J0Q5;C9J239;C9JFD3	.;.;.	R	368;367;368;368;368;367;368;368	ENSP00000384018:S368R;ENSP00000384202:S367R;ENSP00000348551:S368R;ENSP00000380513:S368R;ENSP00000400281:S367R;ENSP00000402808:S368R;ENSP00000405367:S368R	ENSP00000348551:S368R	S	-	3	2	NCOR2	123480157	0.134000	0.22483	0.995000	0.50966	0.671000	0.39405	-0.365000	0.07573	-0.322000	0.08615	0.313000	0.20887	AGC	NCOR2	-	NULL	ENSG00000196498		0.662	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2		0	62	0	G	NM_006312		124914204	-1			no_errors	ENST00000356219	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.996	T	T	124914204	G	T	124914204	3	4	169	1	0	0	0	0	1	0	0	0	10275	1078	38	2	6616	2	NCOR2	12	124914204	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	13128808	124914204	8937691	114	42592											
GOLGA3	2802	genome.wustl.edu	37	chr12	133384931	133384931	+	Missense_Mutation	SNP	T	T	C	0	1	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	atcggccagagaccggatttTgcttgatttggaagtttttt	8	16	11	6	2	0	2	0	1	0	1	1	5	0	4	2	3	1	2	2	3	1	7			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr12:133384931T>C	ENST00000450791.2	-	4	907	c.724A>G	c.(724-726)Aaa>Gaa	p.K242E	GOLGA3_ENST00000537452.1_Missense_Mutation_p.K242E|GOLGA3_ENST00000545875.1_Missense_Mutation_p.K242E|GOLGA3_ENST00000456883.2_Missense_Mutation_p.K242E|GOLGA3_ENST00000204726.3_Missense_Mutation_p.K242E			Q08378	GOGA3_HUMAN	golgin A3	242	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)		GACCGGATTTTGCTTGATTTG	0.537																																																	0													138	156	150					12																	133384931		2203	4300	6503	SO:0001583	missense	0			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.724A>G	12.37:g.133384931T>C	ENSP00000410378:p.Lys242Glu		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.K242E	ENST00000450791.2	37	c.724	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	T	21.9	4.218307	0.79464	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.34	5.34	0.76211	.	0.179314	0.64402	D	0.000018	T	0.32675	0.0837	L	0.52364	1.645	0.80722	D	1	P;B;P	0.46142	0.873;0.4;0.673	B;B;B	0.41412	0.356;0.121;0.214	T	0.17745	-1.0359	10	0.72032	D	0.01	.	15.6173	0.76778	0.0:0.0:0.0:1.0	.	242;242;242	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	E	242	ENSP00000204726:K242E;ENSP00000410378:K242E;ENSP00000409303:K242E;ENSP00000442143:K242E;ENSP00000442603:K242E	ENSP00000204726:K242E	K	-	1	0	GOLGA3	131895004	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.913000	0.87471	2.153000	0.67306	0.477000	0.44152	AAA	GOLGA3	-	NULL	ENSG00000090615		0.537	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	-	0	44	0	T	NM_005895		133384931	-1	tier1	-	no_errors	ENST00000204726	ensembl	human	known	74_37	missense	34.85	43	23	SNP	1.000	C	C	133384931	T	C	133384931	3	2	169	1	0	0	0	0	1	0	0	0	6580	1821	63	4	3990	4	GOLGA3	12	133384931	Missense_Mutation	SNP	T	TCGA-VR-A8EY-01A-11D-A36J-09	8470727	133384931	466964	115	42593											
LRCH1	23143	genome.wustl.edu	37	chr13	47266728	47266728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcaaacatcatggaagaaGaacagatcatcaaggaggac	18	6	10	7	0	4	3	4	0	0	3	4	6	4	6	0	3	2	0	0	3	5	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr13:47266728G>C	ENST00000389798.3	+	8	1269	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	LRCH1_ENST00000389797.3_Missense_Mutation_p.E358Q|LRCH1_ENST00000311191.6_Missense_Mutation_p.E358Q	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	358										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CATGGAAGAAGAACAGATCAT	0.403																																																	0													179	146	157					13																	47266728		2203	4300	6503	SO:0001583	missense	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1072G>C	13.37:g.47266728G>C	ENSP00000374448:p.Glu358Gln		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.E358Q	ENST00000389798.3	37	c.1072	CCDS31972.1	13	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264739	0.59431	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.53857	0.62;0.67;0.6	5.83	5.83	0.93111	.	0.392250	0.27210	N	0.020419	T	0.45696	0.1355	N	0.11364	0.135	0.42695	D	0.993599	D;P;D;P	0.56287	0.957;0.604;0.975;0.745	P;B;P;B	0.53185	0.529;0.334;0.72;0.354	T	0.31558	-0.9939	10	0.09843	T	0.71	-6.3884	19.122	0.93367	0.0:0.0:1.0:0.0	.	358;358;358;358	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	Q	358	ENSP00000308493:E358Q;ENSP00000374448:E358Q;ENSP00000374447:E358Q	ENSP00000308493:E358Q	E	+	1	0	LRCH1	46164729	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.672000	0.83956	2.770000	0.95276	0.655000	0.94253	GAA	LRCH1	-	NULL	ENSG00000136141		0.403	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	-	0	30	0	G	NM_015116		47266728	1	tier1	-	no_errors	ENST00000389798	ensembl	human	known	74_37	missense	25.40	47	16	SNP	1.000	C	C	47266728	G	C	47266728	3	2	169	1	0	0	0	0	1	0	0	0	8967	943	33	5	1102	5	LRCH1	13	47266728	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09		47266728	67903150	116	42594											
MYCBP2	23077	genome.wustl.edu	37	chr13	77835366	77835366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatatgctcccatcttctgCaactaaaagggcgtgagagc	12	9	10	10	1	2	1	0	1	2	1	3	3	3	1	1	1	4	2	1	1	5	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr13:77835366C>T	ENST00000544440.2	-	12	1695	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A560T|MYCBP2_ENST00000407578.2_Missense_Mutation_p.A598T					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)		CCATCTTCTGCAACTAAAAGG	0.388																																																	0													124	113	117					13																	77835366		2203	4300	6503	SO:0001583	missense	0			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.1678G>A	13.37:g.77835366C>T	ENSP00000444596:p.Ala560Thr			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.A598T	ENST00000544440.2	37	c.1792		13	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062139	0.76187	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.75938	-0.98;-0.98;-0.98	5.62	5.62	0.85841	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.75606	0.3872	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.67329	-0.5698	10	0.02654	T	1	.	19.6562	0.95842	0.0:1.0:0.0:0.0	.	560	O75592	MYCB2_HUMAN	T	560;598;560	ENSP00000349892:A560T;ENSP00000384288:A598T;ENSP00000444596:A560T	ENSP00000349892:A560T	A	-	1	0	MYCBP2	76733367	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.729000	0.84864	2.653000	0.90120	0.585000	0.79938	GCA	MYCBP2	-	superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold	ENSG00000005810		0.388	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	48	0	C	NM_015057		77835366	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	7.81	59	5	SNP	1.000	T	T	77835366	C	T	77835366	3	4	169	1	0	0	0	0	1	0	0	0	10056	710	25	3	12532	3	MYCBP2	13	77835366	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	30568638	77835366	37334512	117	42595											
MYO16	23026	genome.wustl.edu	37	chr13	109793189	109793189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggtgaagaagctgccagtCctggagaccaacctcaagta	13	6	12	10	0	1	3	1	1	0	2	2	5	2	3	4	2	3	2	4	2	5	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr13:109793189C>T	ENST00000357550.2	+	31	4604	c.4563C>T	c.(4561-4563)gtC>gtT	p.V1521V	MYO16_ENST00000356711.2_Silent_p.V1521V	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)			AGCTGCCAGTCCTGGAGACCA	0.706																																																	0													19	23	22					13																	109793189		2194	4289	6483	SO:0001819	synonymous_variant	0				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.4563C>T	13.37:g.109793189C>T				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1521	ENST00000357550.2	37	c.4563	CCDS32008.1	13																																																																																			MYO16	-	NULL	ENSG00000041515		0.706	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0	21	0	C	NM_015011		109793189	1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	silent	52.17	11	12	SNP	0.988	T	T	109793189	C	T	109793189	2	4	169	1	0	0	0	0	0	0	0	1	10102	842	30	3		3	MYO16	13	109793189	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	31957823	109793189	5376689	118	42596											
GZMH	2999	genome.wustl.edu	37	chr14	25076443	25076443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ggaagagacgttcacactggCagtccttctgcactgtcagc	9	9	11	12	1	3	1	2	0	1	1	4	3	4	2	1	2	2	3	1	2	1	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr14:25076443C>T	ENST00000216338.4	-	4	553	c.509G>A	c.(508-510)tGc>tAc	p.C170Y	RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Intron	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	170	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		TTCACACTGGCAGTCCTTCTG	0.522																																																	0													193	177	182					14																	25076443		2203	4300	6503	SO:0001583	missense	0			M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.509G>A	14.37:g.25076443C>T	ENSP00000216338:p.Cys170Tyr		G3V2C5|Q6XGZ0|Q6XGZ1	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.C170Y	ENST00000216338.4	37	c.509	CCDS9632.1	14	.	.	.	.	.	.	.	.	.	.	c	8.535	0.871889	0.17322	.	.	ENSG00000100450	ENST00000216338	D	0.88354	-2.37	4.83	-9.67	0.00531	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.68613	0.3020	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59553	-0.7433	9	0.54805	T	0.06	.	12.6848	0.56942	0.0:0.6466:0.1249:0.2285	.	170	P20718	GRAH_HUMAN	Y	170	ENSP00000216338:C170Y	ENSP00000216338:C170Y	C	-	2	0	GZMH	24146283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.768000	0.00371	-1.725000	0.01371	-1.202000	0.01658	TGC	GZMH	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000100450		0.522	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMH	HGNC	protein_coding	OTTHUMT00000276538.2	-	0	16	0	C	NM_033423		25076443	-1	tier1	-	no_errors	ENST00000216338	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.000	T	T	25076443	C	T	25076443	3	4	169	1	0	0	0	0	1	0	0	0	6944	710	25	3	239	3	GZMH	14	25076443	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09		25076443	82273097	119	42597											
G2E3	55632	genome.wustl.edu	37	chr14	31085591	31085591	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cttcaattgagtgtctgcatGtggattttcctgttggaaac	8	16	10	7	0	2	1	1	1	1	0	3	3	3	3	1	2	2	2	1	2	2	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr14:31085591G>T	ENST00000206595.6	+	15	2126	c.1972G>T	c.(1972-1974)Gtg>Ttg	p.V658L	G2E3_ENST00000553504.1_Missense_Mutation_p.V688L|G2E3_ENST00000438909.2_Missense_Mutation_p.V612L	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	658	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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						GTGTCTGCATGTGGATTTTCC	0.363																																																	0													62	58	59					14																	31085591		2203	4300	6503	SO:0001583	missense	0			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.1972G>T	14.37:g.31085591G>T	ENSP00000206595:p.Val658Leu		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.V658L	ENST00000206595.6	37	c.1972	CCDS9638.1	14	.	.	.	.	.	.	.	.	.	.	G	6.865	0.528863	0.13127	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.57273	0.41;0.41;0.41	5.8	-3.18	0.05186	HECT (3);	6.390080	0.00465	N	0.000105	T	0.41396	0.1157	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.007;0.003	B;B	0.10450	0.005;0.005	T	0.33111	-0.9881	10	0.11182	T	0.66	0.6783	14.4375	0.67293	0.5584:0.0:0.4416:0.0	.	170;658	Q49AD9;Q7L622	.;G2E3_HUMAN	L	658;612;688	ENSP00000206595:V658L;ENSP00000391068:V612L;ENSP00000451653:V688L	ENSP00000206595:V658L	V	+	1	0	G2E3	30155342	0.082000	0.21442	0.189000	0.23252	0.215000	0.24574	0.279000	0.18771	-0.375000	0.07955	-0.948000	0.02665	GTG	G2E3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000092140		0.363	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2	-	0	92	0	G	NM_017769		31085591	1	tier1	-	no_errors	ENST00000206595	ensembl	human	known	74_37	missense	42.68	90	67	SNP	0.000	T	T	31085591	G	T	31085591	3	4	169	1	0	0	0	0	1	0	0	0	6164	1377	48	3	2026	3	G2E3	14	31085591	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	6009148	31085591	76263949	120	42598											
SIX6	4990	genome.wustl.edu	37	chr14	60976547	60976547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacgcggcacctgctacGcgagtggtacctgcaggatc	7	6	14	14	5	0	0	0	0	0	0	1	2	0	1	2	3	4	5	2	3	2	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr14:60976547G>A	ENST00000327720.5	+	1	879	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	144					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CACCTGCTACGCGAGTGGTAC	0.587																																																	0													53	48	50					14																	60976547		2203	4300	6503	SO:0001583	missense	0			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"Homeoboxes / SINE class"	10892	protein-coding gene	gene with protein product		606326	"sine oculis homeobox (Drosophila) homolog 6", "sine oculis homeobox homolog 6 (Drosophila)"	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.431G>A	14.37:g.60976547G>A	ENSP00000328596:p.Arg144His		Q6NT42|Q9P1X8	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R144H	ENST00000327720.5	37	c.431	CCDS9747.1	14	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939670	0.92526	.	.	ENSG00000184302	ENST00000327720	D	0.96200	-3.94	5.38	5.38	0.77491	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97368	0.9139	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97418	1.0007	10	0.87932	D	0	.	13.6226	0.62146	0.0762:0.0:0.9238:0.0	.	144	O95475	SIX6_HUMAN	H	144	ENSP00000328596:R144H	ENSP00000328596:R144H	R	+	2	0	SIX6	60046300	1.000000	0.71417	0.803000	0.32268	0.960000	0.62799	9.657000	0.98554	2.804000	0.96469	0.462000	0.41574	CGC	SIX6	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000184302		0.587	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX6	HGNC	protein_coding	OTTHUMT00000276952.2	-	0	56	0	G			60976547	1	tier1	-	no_errors	ENST00000327720	ensembl	human	known	74_37	missense	35.19	35	19	SNP	0.996	A	A	60976547	G	A	60976547	3	1	169	1	0	0	0	0	1	0	0	0	14396	1087	38	1	433	1	SIX6	14	60976547	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	29890956	60976547	46372993	121	42599											
C14orf43	91748	genome.wustl.edu	37	chr14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-																															ggcatctggggtagggctgcCtgctgctgctgctgctgctg																										TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																																	0																																										SO:0001651	inframe_deletion	0			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.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del		Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.Q262in_frame_del	ENST00000286523.5	37	c.786_784	CCDS9819.1	14																																																																																			ELMSAN1	-	NULL	ENSG00000156030		0.65	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1		0	56	0	CTG	NM_194278		74205928	-1			no_errors	ENST00000286523	ensembl	human	known	74_37	in_frame_del	6.32	89	6	DEL	1.000:1.000:1.000	0	-	74205928	CTG	-	74205926	7	5	169	1	0	1	0	1	0	0	0	0	1779	680	24	0	2395	0	C14orf43	14	74205926	In_Frame_Del	DEL	CTG	TCGA-VR-A8EY-01A-11D-A36J-09	13229379	74205926	33143614	122	42600											
FAM164C	79696	genome.wustl.edu	37	chr14	75537509	75537509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaatggaacacccaaaCaaaagcccggagctactcct	15	4	6	16	1	0	0	0	0	0	0	1	2	1	2	5	2	5	1	5	2	6	1	rs200028022		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr14:75537509C>A	ENST00000524913.1	+	2	722	c.233C>A	c.(232-234)aCa>aAa	p.T78K	ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.T78K|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.T78K|ACYP1_ENST00000555463.1_5'Flank	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	78							metal ion binding (GO:0046872)										AACACCCAAACAAAAGCCCGG	0.463																																																	0													163	166	165					14																	75537509		1837	4089	5926	SO:0001583	missense	0			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.233C>A	14.37:g.75537509C>A	ENSP00000435550:p.Thr78Lys		E9PJQ0|Q9BTA8|Q9H5S9	Missense_Mutation	SNP	NULL	p.T78K	ENST00000524913.1	37	c.233	CCDS41972.1	14	.	.	.	.	.	.	.	.	.	.	C	2.054	-0.417009	0.04766	.	.	ENSG00000119703	ENST00000534151;ENST00000524913;ENST00000238686;ENST00000554763;ENST00000439583;ENST00000526130;ENST00000525046	T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12	4.49	0.546	0.17196	.	0.354098	0.20700	N	0.087281	T	0.17577	0.0422	L	0.60455	1.87	0.09310	N	1	B;B	0.33612	0.419;0.19	B;B	0.36244	0.22;0.11	T	0.22800	-1.0206	10	0.87932	D	0	1.0863	1.5888	0.02650	0.1695:0.4785:0.1643:0.1878	.	78;78	Q53FD0;E9PJQ0	F164C_HUMAN;.	K	78	ENSP00000434997:T78K;ENSP00000435550:T78K;ENSP00000238686:T78K;ENSP00000451195:T78K;ENSP00000390606:T78K;ENSP00000437160:T78K;ENSP00000435684:T78K	ENSP00000238686:T78K	T	+	2	0	FAM164C	74607262	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.697000	0.05098	-0.069000	0.12931	-0.262000	0.10625	ACA	ZC2HC1C	-	NULL	ENSG00000119703		0.463	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1C	HGNC	protein_coding	OTTHUMT00000394616.4	-	0	47	0	C	NM_001042430		75537509	1	tier1	-	no_errors	ENST00000524913	ensembl	human	known	74_37	missense	6.74	82	6	SNP	0.000	A	A	75537509	C	A	75537509	3	1	169	1	0	0	0	0	1	0	0	0	5498	478	17	3	235	3	FAM164C	14	75537509	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	1331583	75537509	31812031	123	42601											
RTL1	388015	genome.wustl.edu	37	chr14	101347177	101347177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcaggaactggctcagggCcctggctgcctgctcccggc	4	7	15	15	1	2	0	2	0	0	0	3	1	3	1	3	6	3	3	3	6	1	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr14:101347177C>T	ENST00000534062.1	-	1	4007	c.3949G>A	c.(3949-3951)Gcc>Acc	p.A1317T	MIR431_ENST00000385266.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1317					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						TGGCTCAGGGCCCTGGCTGCC	0.657																																																	0													19	21	20					14																	101347177		692	1589	2281	SO:0001583	missense	0				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.3949G>A	14.37:g.101347177C>T	ENSP00000435342:p.Ala1317Thr		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.A1317T	ENST00000534062.1	37	c.3949	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446118	0.25987	.	.	ENSG00000254656	ENST00000534062	T	0.23950	1.88	3.53	-0.616	0.11583	.	.	.	.	.	T	0.12050	0.0293	N	0.24115	0.695	0.09310	N	1	B	0.17465	0.022	B	0.15052	0.012	T	0.32693	-0.9897	9	0.21014	T	0.42	.	0.9086	0.01290	0.1712:0.3933:0.2094:0.2262	.	1317	E9PKS8	.	T	1317	ENSP00000435342:A1317T	ENSP00000435342:A1317T	A	-	1	0	RTL1	100416930	0.016000	0.18221	0.004000	0.12327	0.150000	0.21749	-0.281000	0.08456	-0.126000	0.11682	0.609000	0.83330	GCC	RTL1	-	NULL	ENSG00000254656		0.657	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	-	0	82	0	C	NM_001134888		101347177	-1	tier1	-	no_errors	ENST00000534062	ensembl	human	known	74_37	missense	32.62	94	46	SNP	0.001	T	T	101347177	C	T	101347177	3	4	169	1	0	0	0	0	1	0	0	0	13769	739	26	3	131	3	RTL1	14	101347177	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	25809668	101347177	6002363	124	42602											
SPG11	80208	genome.wustl.edu	37	chr15	44862814	44862815	+	Frame_Shift_Del	DEL	GT	GT	-																															tgatgccctccatgtggcacGtcagggtgaagcaatgatgg																								rs375608115		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr15:44862814_44862815delGT	ENST00000261866.7	-	34	6401_6402	c.6385_6386delAC	c.(6385-6387)acgfs	p.T2129fs	SPG11_ENST00000427534.2_Frame_Shift_Del_p.T2129fs|SPG11_ENST00000535302.2_Frame_Shift_Del_p.T2016fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2129					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)		CATGTGGCACGTCAGGGTGAAG	0.579																																																	0																																										SO:0001589	frameshift_variant	0				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.6385_6386delAC	15.37:g.44862814_44862815delGT	ENSP00000261866:p.Thr2129fs		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Frame_Shift_Del	DEL	NULL	p.T2129fs	ENST00000261866.7	37	c.6386_6385	CCDS10112.1	15																																																																																			SPG11	-	NULL	ENSG00000104133		0.579	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1		0	35	0	GT			44862815	-1	tier1		no_errors	ENST00000261866	ensembl	human	known	74_37	frame_shift_del	17.14	29	6	DEL	1.000:1.000	-	-	44862815	GT	-	44862814	7	5	169	1	0	1	0	1	0	0	0	0	15088	1145	40	0	973	0	SPG11	15	44862814	Frame_Shift_Del	DEL	GT	TCGA-VR-A8EY-01A-11D-A36J-09		44862814	57668578	125	42603											
CEP152	22995	genome.wustl.edu	37	chr15	49031153	49031153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtaggtctttcttcttgtGcaaaccaaagcctccttcac	9	13	7	12	0	4	0	1	0	3	0	5	1	5	0	3	1	3	2	3	1	3	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr15:49031153G>T	ENST00000380950.2	-	27	4613	c.4426C>A	c.(4426-4428)Cac>Aac	p.H1476N	CEP152_ENST00000399334.3_Missense_Mutation_p.H1420N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1476					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)		TTCTTCTTGTGCAAACCAAAG	0.443																																																	0													119	115	116					15																	49031153		1912	4130	6042	SO:0001583	missense	0			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.4426C>A	15.37:g.49031153G>T	ENSP00000370337:p.His1476Asn		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.H1476N	ENST00000380950.2	37	c.4426	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	9.067	0.995930	0.19043	.	.	ENSG00000103995	ENST00000399334	T	0.54279	0.58	4.34	2.47	0.30058	.	0.842875	0.10169	N	0.707418	T	0.32882	0.0844	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.25572	-1.0128	10	0.12766	T	0.61	0.1091	3.9524	0.09375	0.1969:0.0:0.6005:0.2026	.	1420	O94986	CE152_HUMAN	N	1420	ENSP00000382271:H1420N	ENSP00000382271:H1420N	H	-	1	0	CEP152	46818445	0.028000	0.19301	0.028000	0.17463	0.242000	0.25591	1.358000	0.34102	0.777000	0.33496	0.557000	0.71058	CAC	CEP152	-	NULL	ENSG00000103995		0.443	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1		0	36	0	G	NM_014985		49031153	-1			no_errors	ENST00000380950	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.006	T	T	49031153	G	T	49031153	3	4	169	1	0	0	0	0	1	0	0	0	3255	1319	46	3	710	3	CEP152	15	49031153	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	4168339	49031153	53500239	126	42604											
HCN4	10021	genome.wustl.edu	37	chr15	73660109	73660111	+	In_Frame_Del	DEL	GGC	GGC	-																															ccggctgcggtggctgctggGgcggcggcggcgaggctgcg																										TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr15:73660109_73660111delGGC	ENST00000261917.3	-	1	1494_1496	c.501_503delGCC	c.(499-504)ccgccc>ccc	p.167_168PP>P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	167					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)		TGGCTGCTGGGGCGGCGGCGGCG	0.788																																																	0																																										SO:0001651	inframe_deletion	0			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.501_503delGCC	15.37:g.73660118_73660120delGGC	ENSP00000261917:p.Pro168del		Q9UMQ7	In_Frame_Del	DEL	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.P168in_frame_del	ENST00000261917.3	37	c.503_501	CCDS10248.1	15																																																																																			HCN4	-	NULL	ENSG00000138622		0.788	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2		0	8	0	GGC	NM_005477		73660111	-1	tier1		no_errors	ENST00000261917	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	1.000:0.991:0.975	-	-	73660111	GGC	-	73660109	7	5	169	1	0	1	0	1	0	0	0	0	7026	1232	43	0	3140	0	HCN4	15	73660109	In_Frame_Del	DEL	GGC	TCGA-VR-A8EY-01A-11D-A36J-09	24628956	73660109	28871283	127	42605											
ISL2	64843	genome.wustl.edu	37	chr15	76630669	76630669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagggcgcgggacagcGtgtaccacatcgagtgcttc	8	8	15	10	4	0	2	0	2	0	0	2	4	0	3	1	2	3	2	1	2	1	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr15:76630669G>A	ENST00000290759.4	+	3	485	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	109	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GCGGGACAGCGTGTACCACAT	0.687																																					GBM(97;953 1391 16164 31496 36951)												0													21	21	21					15																	76630669		2195	4290	6485	SO:0001583	missense	0			AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"Homeoboxes / LIM class"	18524	protein-coding gene	gene with protein product		609481	"ISL2 transcription factor, LIM/homeodomain, (islet-2)"				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.325G>A	15.37:g.76630669G>A	ENSP00000290759:p.Val109Met		B3KM37	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.V109M	ENST00000290759.4	37	c.325	CCDS10290.1	15	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331392	0.81690	.	.	ENSG00000159556	ENST00000290759	D	0.88277	-2.36	4.3	4.3	0.51218	Zinc finger, LIM-type (5);	0.128400	0.51477	D	0.000088	D	0.94608	0.8262	M	0.86178	2.8	0.58432	D	0.999997	D	0.89917	1.0	D	0.77557	0.99	D	0.95501	0.8577	10	0.87932	D	0	.	15.5201	0.75859	0.0:0.0:1.0:0.0	.	109	Q96A47	ISL2_HUMAN	M	109	ENSP00000290759:V109M	ENSP00000290759:V109M	V	+	1	0	ISL2	74417724	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.422000	0.80217	2.219000	0.72066	0.555000	0.69702	GTG	ISL2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000159556		0.687	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL2	HGNC	protein_coding	OTTHUMT00000289779.1		0	58	0	G			76630669	1			no_errors	ENST00000290759	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A	A	76630669	G	A	76630669	3	1	169	1	0	0	0	0	1	0	0	0	7884	1145	40	1	335	1	ISL2	15	76630669	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	2970560	76630669	25900723	128	42606											
BCL2A1	597	genome.wustl.edu	37	chr15	80263190	80263190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taccttcaaatgcaaatatgGttacaattcttccccagtta	13	14	4	10	0	2	0	1	0	1	0	3	0	3	0	3	1	3	3	3	1	7	7			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr15:80263190G>C	ENST00000267953.3	-	1	598	c.272C>G	c.(271-273)aCc>aGc	p.T91S	BCL2A1_ENST00000335661.6_Missense_Mutation_p.T91S	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	91					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						TGCAAATATGGTTACAATTCT	0.398																																																	0													204	195	198					15																	80263190		2203	4300	6503	SO:0001583	missense	0				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.272C>G	15.37:g.80263190G>C	ENSP00000267953:p.Thr91Ser		Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Bcl2A1,prints_Blc2_fam	p.T91S	ENST00000267953.3	37	c.272	CCDS10312.1	15	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916475	0.52546	.	.	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.16597	2.33;2.33	5.63	5.63	0.86233	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);Apoptosis regulator, Bcl-2, BH1 motif, conserved site (1);	0.000000	0.64402	D	0.000002	T	0.37237	0.0996	L	0.46614	1.455	0.50171	D	0.999852	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	T	0.01748	-1.1282	10	0.51188	T	0.08	-16.052	17.8901	0.88869	0.0:0.0:1.0:0.0	.	91;91	Q86W13;Q16548	.;B2LA1_HUMAN	S	91	ENSP00000267953:T91S;ENSP00000335250:T91S	ENSP00000267953:T91S	T	-	2	0	BCL2A1	78050245	1.000000	0.71417	0.940000	0.37924	0.060000	0.15804	5.228000	0.65310	2.652000	0.90054	0.655000	0.94253	ACC	BCL2A1	-	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Bcl2A1,prints_Blc2_fam	ENSG00000140379		0.398	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2A1	HGNC	protein_coding	OTTHUMT00000291372.1	-	0	49	0	G	NM_004049		80263190	-1	tier1	-	no_errors	ENST00000267953	ensembl	human	known	74_37	missense	26.47	50	18	SNP	1.000	C	C	80263190	G	C	80263190	3	2	169	1	0	0	0	0	1	0	0	0	1367	1261	44	5	323	5	BCL2A1	15	80263190	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	3632521	80263190	22268202	129	42607											
ARNT2	9915	genome.wustl.edu	37	chr15	80767399	80767399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgatggatttctgtttgtgGtggctgctgagacagggcga	6	13	16	6	1	1	2	0	2	1	1	1	5	1	3	0	4	1	3	0	4	0	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr15:80767399G>T	ENST00000303329.4	+	5	622	c.457G>T	c.(457-459)Gtg>Ttg	p.V153L	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Missense_Mutation_p.V142L|ARNT2_ENST00000533983.1_Missense_Mutation_p.V142L	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	153	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TCTGTTTGTGGTGGCTGCTGA	0.473																																																	0													263	259	261					15																	80767399		2203	4300	6503	SO:0001583	missense	0			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.457G>T	15.37:g.80767399G>T	ENSP00000307479:p.Val153Leu		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.V153L	ENST00000303329.4	37	c.457	CCDS32307.1	15	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751602	0.89753	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.15603	2.41	4.65	4.65	0.58169	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	L	0.59967	1.855	0.80722	D	1	D;B	0.60575	0.988;0.256	D;B	0.72982	0.979;0.206	T	0.05989	-1.0852	10	0.38643	T	0.18	.	17.7295	0.88373	0.0:0.0:1.0:0.0	.	153;153	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	L	142;153;153	ENSP00000307479:V153L	ENSP00000307479:V153L	V	+	1	0	ARNT2	78554454	1.000000	0.71417	0.895000	0.35142	0.820000	0.46376	8.792000	0.91856	2.404000	0.81709	0.549000	0.68633	GTG	ARNT2	-	pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS,prints_Nuc_translocat	ENSG00000172379		0.473	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARNT2	HGNC	protein_coding	OTTHUMT00000384389.2	-	0	45	0	G			80767399	1	tier1	-	no_errors	ENST00000303329	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	80767399	G	T	80767399	3	4	169	1	0	0	0	0	1	0	0	0	967	1261	44	3	475	3	ARNT2	15	80767399	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	504209	80767399	21763993	130	42608											
ABHD2	11057	genome.wustl.edu	37	chr15	89695080	89695080	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttggctgagcactgtgttGgaggtgagctgctttagatt	6	14	14	7	0	0	3	0	2	0	1	0	4	0	4	1	3	3	5	1	3	1	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr15:89695080G>T	ENST00000352732.5	+	4	887	c.367G>T	c.(367-369)Gga>Tga	p.G123*	ABHD2_ENST00000355100.3_Nonsense_Mutation_p.G123*|ABHD2_ENST00000565973.1_Nonsense_Mutation_p.G123*	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	123					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCACTGTGTTGGAGGTGAGCT	0.512																																					Colon(11;252 417 24570 33239 41878)												0													185	158	167					15																	89695080		2200	4299	6499	SO:0001587	stop_gained	0			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.367G>T	15.37:g.89695080G>T	ENSP00000268129:p.Gly123*		Q53G48|Q53GU0|Q5FVD9|Q8TC79	Nonsense_Mutation	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.G123*	ENST00000352732.5	37	c.367	CCDS10348.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.757421	0.98474	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	.	.	.	5.65	5.65	0.86999	.	0.055643	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-1.1205	13.9406	0.64052	0.0723:0.0:0.9277:0.0	.	.	.	.	X	123	.	ENSP00000268129:G123X	G	+	1	0	ABHD2	87496084	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.061000	0.64319	2.648000	0.89879	0.655000	0.94253	GGA	ABHD2	-	pirsf_AB-Hydro_YheT	ENSG00000140526		0.512	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2		0	22	0	G			89695080	1			no_errors	ENST00000352732	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	1.000	T	T	89695080	G	T	89695080	4	4	169	1	0	0	0	0	0	1	0	0	82	1349	47	3	373	3	ABHD2	15	89695080	Nonsense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	8927681	89695080	12836312	131	42609											
PCSK6	5046	genome.wustl.edu	37	chr15	101910603	101910603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtagatctggaggtctcctCggcgtgggtgtgagatggag	6	10	19	6	2	2	2	0	1	2	2	4	5	2	4	1	6	0	1	1	6	1	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr15:101910603C>T	ENST00000348070.1	-	13	1654	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.R387Q|PCSK6_ENST00000358417.3_Missense_Mutation_p.R552Q|PCSK6_ENST00000398181.2_Missense_Mutation_p.R552Q|PCSK6_ENST00000344273.2_Missense_Mutation_p.R552Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	553					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAGGTCTCCTCGGCGTGGGTG	0.637																																																	0													38	44	42					15																	101910603		1977	4093	6070	SO:0001583	missense	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1655G>A	15.37:g.101910603C>T	ENSP00000305056:p.Arg552Gln		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.R552Q	ENST00000348070.1	37	c.1655		15	.	.	.	.	.	.	.	.	.	.	C	34	5.404314	0.96051	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	5.3	5.3	0.74995	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.92990	0.7769	H	0.95679	3.705	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.956;0.994;0.997;0.999;0.999;0.999;0.998;0.997;0.999	D	0.94923	0.8075	10	0.87932	D	0	-24.3465	17.9357	0.89011	0.0:1.0:0.0:0.0	.	553;384;553;553;552;552;553;553;552	P29122;Q59H04;P29122-2;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	Q	552;552;383;552;552;387	ENSP00000305056:R552Q;ENSP00000351193:R552Q;ENSP00000344410:R552Q;ENSP00000381243:R552Q;ENSP00000332052:R387Q	ENSP00000332052:R387Q	R	-	2	0	PCSK6	99728126	1.000000	0.71417	0.705000	0.30386	0.856000	0.48823	7.208000	0.77907	2.475000	0.83589	0.561000	0.74099	CGA	PCSK6	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like	ENSG00000140479		0.637	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		-	0	43	0	C	NM_002570		101910603	-1	tier1	-	no_errors	ENST00000348070	ensembl	human	known	74_37	missense	38.71	38	24	SNP	0.997	T	T	101910603	C	T	101910603	3	4	169	1	0	0	0	0	1	0	0	0	11643	884	31	1	1724	1	PCSK6	15	101910603	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	12215523	101910603	620789	132	42610											
LMF1	64788	genome.wustl.edu	37	chr16	920752	920752	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgaaggccccgtaagtgttGacgatgtgaagagagttgaa	12	8	14	7	3	0	4	0	3	0	1	0	7	0	4	3	1	0	3	3	1	4	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr16:920752G>A	ENST00000262301.11	-	8	1227	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V	LMF1_ENST00000543238.1_Silent_p.V166V|LMF1_ENST00000568897.1_Silent_p.V186V|LMF1_ENST00000568268.1_5'Flank|LMF1_ENST00000399843.2_Silent_p.V403V	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	403					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CGTAAGTGTTGACGATGTGAA	0.622																																																	0													105	119	115					16																	920752		2145	4252	6397	SO:0001819	synonymous_variant	0			AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"chromosome 16 open reading frame 26", "transmembrane protein 112"	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1209C>T	16.37:g.920752G>A			Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Silent	SNP	pfam_LMF	p.V403	ENST00000262301.11	37	c.1209	CCDS45373.1	16																																																																																			LMF1	-	pfam_LMF	ENSG00000103227		0.622	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LMF1	HGNC	protein_coding	OTTHUMT00000109071.3	-	0	50	0	G	NM_022773		920752	-1	tier1	-	no_errors	ENST00000262301	ensembl	human	known	74_37	silent	44.23	29	23	SNP	1.000	A	A	920752	G	A	920752	2	1	169	1	0	0	0	0	0	0	0	1	8875	1277	45	3		3	LMF1	16	920752	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09		920752	89434001	133	42611											
CLDN9	9080	genome.wustl.edu	37	chr16	3063877	3063877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgggctgggcggcggctGcactgcttatgctgggcggg	3	8	19	11	3	0	0	0	0	0	0	0	0	0	0	1	6	3	5	1	6	1	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr16:3063877G>T	ENST00000445369.2	+	1	1421	c.514G>T	c.(514-516)Gca>Tca	p.A172S		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	172					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|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)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GGCGGCGGCTGCACTGCTTAT	0.726																																																	0													16	21	19					16																	3063877		2191	4285	6476	SO:0001583	missense	0			AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"Claudins"	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.514G>T	16.37:g.3063877G>T	ENSP00000398017:p.Ala172Ser			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9	p.A172S	ENST00000445369.2	37	c.514	CCDS10487.1	16	.	.	.	.	.	.	.	.	.	.	G	19.85	3.902939	0.72754	.	.	ENSG00000213937	ENST00000445369	D	0.88896	-2.44	4.56	4.56	0.56223	.	0.073494	0.53938	D	0.000044	D	0.89750	0.6805	M	0.67953	2.075	0.80722	D	1	P	0.40230	0.708	P	0.46339	0.513	D	0.88450	0.3048	10	0.31617	T	0.26	.	14.8665	0.70419	0.0:0.0:1.0:0.0	.	172	O95484	CLD9_HUMAN	S	172	ENSP00000398017:A172S	ENSP00000398017:A172S	A	+	1	0	CLDN9	3003878	1.000000	0.71417	0.581000	0.28614	0.590000	0.36582	9.601000	0.98297	2.349000	0.79799	0.563000	0.77884	GCA	CLDN9	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000213937		0.726	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN9	HGNC	protein_coding	OTTHUMT00000250989.1		0	11	0	G	NM_020982		3063877	1			no_errors	ENST00000445369	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.998	T	T	3063877	G	T	3063877	3	4	169	1	0	0	0	0	1	0	0	0	3499	1319	46	3	516	3	CLDN9	16	3063877	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	2143125	3063877	87290876	134	42612											
UBN1	29855	genome.wustl.edu	37	chr16	4927081	4927081	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatcgtcacaggccctgcCcccgggtccttccaccatgg	5	7	10	19	2	1	0	1	0	0	0	4	0	3	0	7	3	1	0	7	3	0	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr16:4927081C>G	ENST00000396658.4	+	15	3937	c.3234C>G	c.(3232-3234)gcC>gcG	p.A1078A	UBN1_ENST00000590769.1_Silent_p.A1078A|UBN1_ENST00000262376.6_Silent_p.A1078A|UBN1_ENST00000545171.1_Silent_p.A1078A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1078					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						CAGGCCCTGCCCCCGGGTCCT	0.577																																																	0													139	146	144					16																	4927081		2197	4300	6497	SO:0001819	synonymous_variant	0			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.3234C>G	16.37:g.4927081C>G			B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	NULL	p.A1078	ENST00000396658.4	37	c.3234	CCDS10525.1	16																																																																																			UBN1	-	NULL	ENSG00000118900		0.577	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	-	0	32	0	C	NM_016936		4927081	1	tier1	-	no_errors	ENST00000262376	ensembl	human	known	74_37	silent	54.35	21	25	SNP	0.972	G	G	4927081	C	G	4927081	2	3	169	1	0	0	0	0	0	0	0	1	16941	610	22	5		5	UBN1	16	4927081	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	1863204	4927081	85427672	135	42613											
GPR139	124274	genome.wustl.edu	37	chr16	20043281	20043281	+	Missense_Mutation	SNP	T	T	C	0	1	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	gcagtagaggaagaagttgaTggctgtgttcagaagggcta	12	9	16	4	0	1	4	1	1	0	3	1	5	1	5	0	3	0	6	0	3	5	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr16:20043281T>C	ENST00000570682.1	-	2	1138	c.838A>G	c.(838-840)Atc>Gtc	p.I280V		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	280					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						AAGAAGTTGATGGCTGTGTTC	0.532																																																	0													98	98	98					16																	20043281		2203	4300	6503	SO:0001583	missense	0			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.838A>G	16.37:g.20043281T>C	ENSP00000458791:p.Ile280Val		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.I280V	ENST00000570682.1	37	c.838	CCDS32398.1	16	.	.	.	.	.	.	.	.	.	.	T	1.271	-0.612940	0.03690	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.52	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.177376	0.50627	D	0.000115	T	0.21062	0.0507	N	0.02802	-0.49	0.34134	D	0.665619	B	0.06786	0.001	B	0.17098	0.017	T	0.21008	-1.0258	9	0.09084	T	0.74	-30.2765	10.5047	0.44826	0.0:0.0753:0.0:0.9247	.	280	Q6DWJ6	GP139_HUMAN	V	280	.	ENSP00000370779:I280V	I	-	1	0	GPR139	19950782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.741000	0.55090	0.935000	0.37341	0.533000	0.62120	ATC	GPR139	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180269		0.532	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR139	HGNC	protein_coding	OTTHUMT00000438522.1	-	0	52	0	T	NM_001002911		20043281	-1	tier1	-	no_errors	ENST00000570682	ensembl	human	known	74_37	missense	41.33	43	31	SNP	1.000	C	C	20043281	T	C	20043281	3	2	169	1	0	0	0	0	1	0	0	0	6674	1464	51	4	227	4	GPR139	16	20043281	Missense_Mutation	SNP	T	TCGA-VR-A8EY-01A-11D-A36J-09	15116200	20043281	70311472	136	42614											
EDC4	23644	genome.wustl.edu	37	chr16	67913016	67913016	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtgctgcctgccgaaGaggaaaatgacagcctgggt	10	7	15	9	1	0	3	0	2	0	1	0	5	0	4	3	3	4	1	3	3	3	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr16:67913016G>T	ENST00000358933.5	+	12	1683	c.1444G>T	c.(1444-1446)Gag>Tag	p.E482*	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	482					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)		GCCTGCCGAAGAGGAAAATGA	0.592																																																	0													40	39	39					16																	67913016		2198	4300	6498	SO:0001587	stop_gained	0			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.1444G>T	16.37:g.67913016G>T	ENSP00000351811:p.Glu482*		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E482*	ENST00000358933.5	37	c.1444	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	39	7.597568	0.98381	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.53	5.53	0.82687	.	0.143577	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-25.1324	17.412	0.87488	0.0:0.0:1.0:0.0	.	.	.	.	X	482;414	.	ENSP00000351811:E482X	E	+	1	0	EDC4	66470517	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.541000	0.98083	2.882000	0.98803	0.655000	0.94253	GAG	EDC4	-	NULL	ENSG00000038358		0.592	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2		0	24	0	G	NM_014329		67913016	1			no_errors	ENST00000358933	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	1.000	T	T	67913016	G	T	67913016	4	4	169	1	0	0	0	0	0	1	0	0	4922	943	33	3	1490	3	EDC4	16	67913016	Nonsense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	47869735	67913016	22441737	137	42615											
TP53	7157	genome.wustl.edu	37	chr17	7579563	7579563	+	Frame_Shift_Del	DEL	C	C	-																															gtccggggacagcatcaaatCatccattgcttgggacggca																										TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:7579563delC	ENST00000269305.4	-	4	313	c.124delG	c.(124-126)gatfs	p.D42fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.D42fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.D42fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.D42fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.D42fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D42fs	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	42	Interaction with HRMT1L2.|Transcription activation (acidic).		D -> Y (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.S37fs*79(1)|p.D42Y(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGCATCAAATCATCCATTGCT	0.607		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(3)|Substitution - Missense(1)	bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|ovary(1)|prostate(1)											168	165	166					17																	7579563		2203	4300	6503	SO:0001589	frameshift_variant	0	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.124delG	17.37:g.7579563delC	ENSP00000269305:p.Asp42fs		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.D42fs	ENST00000269305.4	37	c.124	CCDS11118.1	17																																																																																			TP53	-	NULL	ENSG00000141510		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	35	0	C	NM_000546		7579563	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	83.10	12	59	DEL	0.000	-	-	7579563	C	-	7579563	7	5	169	1	0	1	0	1	0	0	0	0	16429	826	29	0	1178	0	TP53	17	7579563	Frame_Shift_Del	DEL	C	TCGA-VR-A8EY-01A-11D-A36J-09		7579563	73615647	138	42616											
KDM6B	23135	genome.wustl.edu	37	chr17	7751886	7751887	+	Missense_Mutation	DNP	CA	CA	GG																															accaccaccaccaccaccacCaccacggccacccaggaaga																								rs150343260		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:7751886_7751887CA>GG	ENST00000448097.2	+	11	2611_2612	c.2280_2281CA>GG	c.(2278-2283)acCAcc>acGGcc	p.T761A	KDM6B_ENST00000254846.5_Missense_Mutation_p.T761A			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	761	Pro-rich.|Thr-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ccaccaccaccaccacggccac	0.639																																																	0																																										SO:0001583	missense	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		Exception_encountered	17.37:g.7751886_7751887delinsGG	ENSP00000412513:p.Thr761Ala		C9IZ40|Q96G33	Silent|Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.T760|p.T761A	ENST00000448097.2	37	c.2280|c.2281		17																																																																																			KDM6B	-	NULL	ENSG00000132510		0.639	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1		0	10|9	0	C|A	XM_043272		7751886|7751887	1			no_errors	ENST00000254846	ensembl	human	known	74_37	silent|missense	20.00|16.67	20	5|4	SNP	0.191|0.160	G	GG	7751887	CA	GG	7751886	3	3	169	1	0	0	0	0	1	0	0	0	8165	581	21	5	2310	5	KDM6B	17	7751886	Missense_Mutation	DNP	CA	TCGA-VR-A8EY-01A-11D-A36J-09	172323	7751886	73443324	139	42617											
ALOX15B	247	genome.wustl.edu	37	chr17	7942529	7942529	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccttcggggctggcacatGggacaaagtgtctgtcagca	9	8	14	10	1	2	0	1	0	1	0	3	1	2	1	1	4	2	3	1	4	1	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:7942529G>C	ENST00000380183.4	+	1	195	c.56G>C	c.(55-57)tGg>tCg	p.W19S	ALOX15B_ENST00000380173.2_Missense_Mutation_p.W19S|ALOX15B_ENST00000573359.1_Missense_Mutation_p.W19S|ALOX15B_ENST00000572022.1_Missense_Mutation_p.W19S	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	19	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCTGGCACATGGGACAAAGTG	0.647																																																	0													66	71	69					17																	7942529		2203	4300	6503	SO:0001583	missense	0			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.56G>C	17.37:g.7942529G>C	ENSP00000369530:p.Trp19Ser		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.W19S	ENST00000380183.4	37	c.56	CCDS11128.1	17	.	.	.	.	.	.	.	.	.	.	G	6.174	0.400363	0.11696	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.62232	0.04;0.04	4.09	3.03	0.35002	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.711084	0.13395	N	0.391066	T	0.53674	0.1811	L	0.45137	1.4	0.40724	D	0.982689	B;B;B;B	0.22414	0.069;0.056;0.056;0.069	B;B;B;B	0.30401	0.115;0.07;0.07;0.115	T	0.48502	-0.9030	10	0.22109	T	0.4	-15.1159	10.4172	0.44329	0.0:0.0:0.6608:0.3391	.	19;19;19;19	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	S	19	ENSP00000369520:W19S;ENSP00000369530:W19S	ENSP00000344337:W19S	W	+	2	0	ALOX15B	7883254	0.000000	0.05858	0.994000	0.49952	0.538000	0.34931	-0.611000	0.05622	1.963000	0.57068	0.585000	0.79938	TGG	ALOX15B	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml	ENSG00000179593		0.647	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	HGNC	protein_coding	OTTHUMT00000226985.2	-	0	103	0	G			7942529	1	tier1	-	no_errors	ENST00000380183	ensembl	human	known	74_37	missense	29.20	80	33	SNP	0.674	C	C	7942529	G	C	7942529	3	2	169	1	0	0	0	0	1	0	0	0	539	1357	47	5	58	5	ALOX15B	17	7942529	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	190643	7942529	73252681	140	42618											
MYH10	4628	genome.wustl.edu	37	chr17	8409714	8409714	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	caatctgcgcctgcagctctGcgatctggtcctgcaggtcg	5	10	12	14	3	3	0	0	0	3	0	5	1	4	0	2	2	5	3	2	2	1	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:8409714G>T	ENST00000269243.4	-	25	3353	c.3215C>A	c.(3214-3216)gCa>gAa	p.A1072E	MYH10_ENST00000360416.3_Missense_Mutation_p.A1103E|MYH10_ENST00000396239.1_Missense_Mutation_p.A1093E|MYH10_ENST00000379980.4_Missense_Mutation_p.A1088E	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1072					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						CTGCAGCTCTGCGATCTGGTC	0.572																																																	0													106	90	96					17																	8409714		2203	4300	6503	SO:0001583	missense	0			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.3215C>A	17.37:g.8409714G>T	ENSP00000269243:p.Ala1072Glu		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1093E	ENST00000269243.4	37	c.3278	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154827	0.38021	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	4.87	4.87	0.63330	.	0.161807	0.53938	D	0.000041	T	0.74268	0.3694	L	0.32530	0.975	0.58432	D	0.999997	P;B;B	0.37612	0.602;0.311;0.431	B;B;B	0.41619	0.197;0.361;0.197	T	0.77991	-0.2379	10	0.87932	D	0	.	18.5613	0.91101	0.0:0.0:1.0:0.0	.	1081;1103;1072	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	E	1072;1103;1093;1088	ENSP00000269243:A1072E;ENSP00000353590:A1103E;ENSP00000379539:A1093E;ENSP00000369315:A1088E	ENSP00000269243:A1072E	A	-	2	0	MYH10	8350439	1.000000	0.71417	0.953000	0.39169	0.292000	0.27327	5.420000	0.66441	2.672000	0.90937	0.563000	0.77884	GCA	MYH10	-	superfamily_HR1_rho-bd	ENSG00000133026		0.572	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	-	0	64	0	G			8409714	-1	tier1	-	no_errors	ENST00000396239	ensembl	human	known	74_37	missense	8.14	79	7	SNP	0.998	T	T	8409714	G	T	8409714	3	4	169	1	0	0	0	0	1	0	0	0	10068	1319	46	3	2783	3	MYH10	17	8409714	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	467185	8409714	72785496	141	42619											
MYH1	4619	genome.wustl.edu	37	chr17	10401141	10401141	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggtcctcaacttcattctgGagcctctgcttcgtcttctc	5	15	7	14	1	6	0	2	0	4	0	9	1	7	1	2	2	3	1	2	2	1	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:10401141G>C	ENST00000226207.5	-	31	4369	c.4275C>G	c.(4273-4275)ctC>ctG	p.L1425L	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1425					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						CTTCATTCTGGAGCCTCTGCT	0.478																																																	0													121	110	114					17																	10401141		2203	4300	6503	SO:0001819	synonymous_variant	0				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.4275C>G	17.37:g.10401141G>C			Q14CA4|Q9Y622	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1425	ENST00000226207.5	37	c.4275	CCDS11155.1	17																																																																																			MYH1	-	pfam_Myosin_tail	ENSG00000109061		0.478	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0	59	0	G	NM_005963		10401141	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	silent	27.34	101	38	SNP	0.997	C	C	10401141	G	C	10401141	2	2	169	1	0	0	0	0	0	0	0	1	10067	1161	41	5		5	MYH1	17	10401141	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	1991427	10401141	70794069	142	42620											
MYH2	4620	genome.wustl.edu	37	chr17	10428870	10428870	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgccaagggaacgggcctCcttctgggaggcctcaagct	8	7	14	12	1	2	0	1	0	1	0	3	2	3	2	4	4	3	1	4	4	3	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:10428870C>A	ENST00000245503.5	-	32	4819	c.4435G>T	c.(4435-4437)Gag>Tag	p.E1479*	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E1479*|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1479					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAACGGGCCTCCTTCTGGGAG	0.468																																																	0													68	72	71					17																	10428870		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4435G>T	17.37:g.10428870C>A	ENSP00000245503:p.Glu1479*		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1479*	ENST00000245503.5	37	c.4435	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	46	12.659159	0.99686	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	5.2	5.2	0.72013	.	0.000000	0.39615	U	0.001306	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9276	0.92552	0.0:1.0:0.0:0.0	.	.	.	.	X	1479	.	ENSP00000245503:E1479X	E	-	1	0	MYH2	10369595	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.569000	0.82380	2.713000	0.92767	0.591000	0.81541	GAG	MYH2	-	pfam_Myosin_tail	ENSG00000125414		0.468	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0	49	0	C	NM_017534		10428870	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	nonsense	28.04	76	30	SNP	1.000	A	A	10428870	C	A	10428870	4	1	169	1	0	0	0	0	0	1	0	0	10073	864	30	3	1426	3	MYH2	17	10428870	Nonsense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	27729	10428870	70766340	143	42621											
DNAH9	1770	genome.wustl.edu	37	chr17	11648203	11648203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccctgaccggcctgaggaCcaggtcctgatgcgctcctt	6	8	12	15	2	0	3	0	3	0	0	2	5	2	4	6	3	1	1	6	3	0	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:11648203C>T	ENST00000262442.4	+	31	6269	c.6201C>T	c.(6199-6201)gaC>gaT	p.D2067D	DNAH9_ENST00000454412.2_Silent_p.D2067D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2067					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)		GGCCTGAGGACCAGGTCCTGA	0.602																																																	0													63	56	58					17																	11648203		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6201C>T	17.37:g.11648203C>T			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D2067	ENST00000262442.4	37	c.6201	CCDS11160.1	17																																																																																			DNAH9	-	superfamily_P-loop_NTPase	ENSG00000007174		0.602	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	40	0	C	NM_001372		11648203	1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	silent	24.49	37	12	SNP	1.000	T	T	11648203	C	T	11648203	2	4	169	1	0	0	0	0	0	0	0	1	4622	506	18	3		3	DNAH9	17	11648203	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	1219333	11648203	69547007	144	42622											
KCNJ12	3768	genome.wustl.edu	37	chr17	21319092	21319092	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcagaccaccatcggctaCgggctgcgctgtgtgacgga	8	6	14	13	5	0	2	0	1	0	1	1	3	0	3	2	3	2	4	2	3	1	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:21319092C>T	ENST00000583088.1	+	3	1333	c.438C>T	c.(436-438)taC>taT	p.Y146Y	KCNJ12_ENST00000331718.5_Silent_p.Y146Y	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	146					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)	CCATCGGCTACGGGCTGCGCT	0.647										Prostate(3;0.18)																																							0													50	48	49					17																	21319092		2203	4299	6502	SO:0001819	synonymous_variant	0			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.438C>T	17.37:g.21319092C>T			O43401|Q15756|Q8NG63	Silent	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.Y146	ENST00000583088.1	37	c.438	CCDS11219.1	17																																																																																			KCNJ12	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	ENSG00000184185		0.647	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0	69	0	C	NM_021012		21319092	1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	silent	6.98	80	6	SNP	1.000	T	T	21319092	C	T	21319092	2	4	169	1	0	0	0	0	0	0	0	1	8073	547	19	1		1	KCNJ12	17	21319092	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	9670889	21319092	59876118	145	42623											
CASC3	22794	genome.wustl.edu	37	chr17	38324562	38324562	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcagcagttgcttgctccTacttacttttctgctccagg	5	15	7	14	0	2	0	1	0	1	0	4	0	4	0	3	1	6	5	3	1	2	6			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:38324562T>C	ENST00000264645.7	+	11	2083	c.1857T>C	c.(1855-1857)ccT>ccC	p.P619P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	619	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TGCTTGCTCCTACTTACTTTT	0.567											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													148	130	136					17																	38324562		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1857T>C	17.37:g.38324562T>C		877	A8K8R0	Silent	SNP	pfam_Btz_dom	p.P619	ENST00000264645.7	37	c.1857	CCDS11362.1	17																																																																																			CASC3	-	NULL	ENSG00000108349		0.567	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC3	HGNC	protein_coding	OTTHUMT00000257127.3	-	0	52	0	T	NM_007359		38324562	1	tier1	-	no_errors	ENST00000264645	ensembl	human	known	74_37	silent	66.30	31	61	SNP	0.926	C	C	38324562	T	C	38324562	2	2	169	1	0	0	0	0	0	0	0	1	2668	1509	53	4		4	CASC3	17	38324562	Silent	SNP	T	TCGA-VR-A8EY-01A-11D-A36J-09	17005470	38324562	42870648	146	42624											
AOC3	8639	genome.wustl.edu	37	chr17	41003957	41003957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcttctccaccactgttgCttctacaagcaccggggacg	7	9	11	14	2	2	0	0	0	2	0	3	1	2	1	3	3	3	4	3	3	2	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:41003957C>T	ENST00000308423.2	+	1	757	c.597C>T	c.(595-597)tgC>tgT	p.C199C	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	199					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACCACTGTTGCTTCTACAAGC	0.582																																					NSCLC(3;192 220 10664 11501 16477)												0													25	24	24					17																	41003957		2202	4298	6500	SO:0001819	synonymous_variant	0			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.597C>T	17.37:g.41003957C>T			B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.C199	ENST00000308423.2	37	c.597	CCDS11444.1	17																																																																																			AOC3	-	pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg	ENSG00000131471		0.582	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	-	0	35	0	C	NM_003734		41003957	1	tier1	-	no_errors	ENST00000308423	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.499	T	T	41003957	C	T	41003957	2	4	169	1	0	0	0	0	0	0	0	1	728	805	28	3		3	AOC3	17	41003957	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	2679395	41003957	40191253	147	42625											
TMEM106A	113277	genome.wustl.edu	37	chr17	41369714	41369714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggggcaccctgacctGttcatacctgagccattcag	8	9	9	15	0	2	2	2	2	0	0	3	2	3	2	5	2	2	2	5	2	1	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:41369714G>T	ENST00000331615.3	+	9	920	c.683G>T	c.(682-684)tGt>tTt	p.C228F	TMEM106A_ENST00000541594.1_Missense_Mutation_p.C180F|LINC00854_ENST00000427995.1_RNA|TMEM106A_ENST00000588659.1_Missense_Mutation_p.C228F|TMEM106A_ENST00000536052.1_Missense_Mutation_p.C181F|LINC00854_ENST00000593624.1_RNA|LINC00854_ENST00000595400.1_RNA	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	228						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)		ACCCTGACCTGTTCATACCTG	0.582																																																	0													199	189	193					17																	41369714		2203	4296	6499	SO:0001583	missense	0			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.683G>T	17.37:g.41369714G>T	ENSP00000330774:p.Cys228Phe		A8K2X2|B7Z698	Missense_Mutation	SNP	pfam_DUF1356_TMEM106	p.C228F	ENST00000331615.3	37	c.683	CCDS11462.1	17	.	.	.	.	.	.	.	.	.	.	G	7.826	0.718875	0.15372	.	.	ENSG00000184988	ENST00000331615;ENST00000536052;ENST00000541594	T;T;T	0.20598	2.06;2.06;2.06	4.67	-2.77	0.05877	.	0.699137	0.14581	N	0.310849	T	0.13927	0.0337	L	0.46741	1.465	0.23445	N	0.997669	B;B;B	0.34181	0.44;0.192;0.297	B;B;B	0.30782	0.089;0.12;0.12	T	0.27839	-1.0062	10	0.19147	T	0.46	-21.3164	9.6208	0.39721	0.6581:0.0:0.3419:0.0	.	181;180;228	B7Z779;B7Z698;Q96A25	.;.;T106A_HUMAN	F	228;181;180	ENSP00000330774:C228F;ENSP00000439835:C181F;ENSP00000439844:C180F	ENSP00000330774:C228F	C	+	2	0	TMEM106A	38725240	0.010000	0.17322	0.095000	0.20976	0.877000	0.50540	-0.130000	0.10498	-0.370000	0.08016	0.591000	0.81541	TGT	TMEM106A	-	pfam_DUF1356_TMEM106	ENSG00000184988		0.582	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106A	HGNC	protein_coding	OTTHUMT00000453470.2	-	0	34	0	G	NM_145041		41369714	1	tier1	-	no_errors	ENST00000331615	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.042	T	T	41369714	G	T	41369714	3	4	169	1	0	0	0	0	1	0	0	0	16067	1377	48	3	709	3	TMEM106A	17	41369714	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	365757	41369714	39825496	148	42626											
EME1	146956	genome.wustl.edu	37	chr17	48452977	48452977	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgcatcatgtgactggaaAaagccctttccaaagatccc	12	9	9	11	0	1	2	1	1	0	1	3	3	3	3	3	2	2	1	3	2	3	1	rs76981894		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:48452977A>G	ENST00000338165.4	+	2	490	c.408A>G	c.(406-408)aaA>aaG	p.K136K	MRPL27_ENST00000507088.1_5'Flank|EME1_ENST00000393271.2_Silent_p.K136K|MRPL27_ENST00000442592.3_5'Flank|EME1_ENST00000511648.2_Silent_p.K136K|MRPL27_ENST00000503633.1_5'Flank|MRPL27_ENST00000225969.4_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	136					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GTGACTGGAAAAAGCCCTTTC	0.468								Direct reversal of damage;Homologous recombination																																									0													77	81	80					17																	48452977		2203	4300	6503	SO:0001819	synonymous_variant	0			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"	610885	"essential meiotic endonuclease 1 homolog 1 (S. pombe)"			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.408A>G	17.37:g.48452977A>G			Q96N62	Silent	SNP	pfam_ERCC4_domain,smart_ERCC4_domain	p.K136	ENST00000338165.4	37	c.408	CCDS11565.1	17																																																																																			EME1	-	NULL	ENSG00000154920		0.468	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EME1	HGNC	protein_coding	OTTHUMT00000367118.3		0	57	0	A	NM_152463		48452977	1			no_errors	ENST00000393271	ensembl	human	known	74_37	silent	6.42	102	7	SNP	0.140	G	G	48452977	A	G	48452977	2	3	169	1	0	0	0	0	0	0	0	1	5104	11	1	4		4	EME1	17	48452977	Silent	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	7083263	48452977	32742233	149	42627											
USP32	84669	genome.wustl.edu	37	chr17	58275786	58275786	+	Missense_Mutation	SNP	A	A	T	1	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	gattcttctgagatgacaggAaatacagttctgtcctcatc	11	13	8	9	0	4	2	1	2	3	1	6	5	5	3	1	1	1	1	1	1	2	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:58275786A>T	ENST00000300896.4	-	27	3463	c.3269T>A	c.(3268-3270)tTc>tAc	p.F1090Y	USP32_ENST00000592339.1_Missense_Mutation_p.F760Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1090	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)			AGATGACAGGAAATACAGTTC	0.443																																																	0													135	124	128					17																	58275786		2203	4300	6503	SO:0001583	missense	0			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.3269T>A	17.37:g.58275786A>T	ENSP00000300896:p.Phe1090Tyr		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin	p.F1090Y	ENST00000300896.4	37	c.3269	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798864	0.70567	.	.	ENSG00000170832	ENST00000300896	T	0.55234	0.53	5.01	5.01	0.66863	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.37561	1.115	0.80722	D	1	P	0.42296	0.775	B	0.39660	0.306	T	0.26849	-1.0091	10	0.19590	T	0.45	.	14.7078	0.69203	1.0:0.0:0.0:0.0	.	1090	Q8NFA0	UBP32_HUMAN	Y	1090	ENSP00000300896:F1090Y	ENSP00000300896:F1090Y	F	-	2	0	USP32	55630568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	1.855000	0.53841	0.459000	0.35465	TTC	USP32	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000170832		0.443	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	-	0	58	0	A	NM_032582		58275786	-1	tier1	-	no_errors	ENST00000300896	ensembl	human	known	74_37	missense	29.82	80	34	SNP	1.000	T	T	58275786	A	T	58275786	3	4	169	1	0	0	0	0	1	0	0	0	17112	246	9	5	1577	5	USP32	17	58275786	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	9822809	58275786	22919424	150	42628											
PGS1	9489	genome.wustl.edu	37	chr17	76392413	76392413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agataagagtagccaagaggCgggtcgtgatggcatccctc	11	7	14	9	2	0	4	0	1	0	3	3	4	1	4	2	3	1	2	2	3	3	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:76392413C>T	ENST00000262764.6	+	3	384	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	PGS1_ENST00000329897.7_Intron	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	120					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGCCAAGAGGCGGGTCGTGAT	0.478																																					Esophageal Squamous(45;182 1126 10685 43198)												0													81	92	89					17																	76392413		1893	4102	5995	SO:0001583	missense	0				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.358C>T	17.37:g.76392413C>T	ENSP00000262764:p.Arg120Trp		B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase	p.R120W	ENST00000262764.6	37	c.358	CCDS42391.1	17	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287733	0.80803	.	.	ENSG00000087157	ENST00000262764	T	0.24350	1.86	5.31	4.32	0.51571	.	0.138509	0.38778	U	0.001571	T	0.61489	0.2351	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73883	-0.3842	10	0.87932	D	0	-27.3081	15.1307	0.72520	0.1426:0.8574:0.0:0.0	.	120	Q32NB8	PGPS1_HUMAN	W	120	ENSP00000262764:R120W	ENSP00000262764:R120W	R	+	1	2	PGS1	73904008	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	5.387000	0.66243	1.182000	0.42928	0.655000	0.94253	CGG	PGS1	-	pirsf_PLipase-D_PtdSer-synthase-type	ENSG00000087157		0.478	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGS1	HGNC	protein_coding	OTTHUMT00000437301.1	-	0	62	0	C	NM_024419		76392413	1	tier1	-	no_errors	ENST00000262764	ensembl	human	known	74_37	missense	32.97	60	30	SNP	1.000	T	T	76392413	C	T	76392413	3	4	169	1	0	0	0	0	1	0	0	0	11847	759	27	1	368	1	PGS1	17	76392413	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	18116627	76392413	4802797	151	42629											
RNF213	57674	genome.wustl.edu	37	chr17	78318718	78318718	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctctgtcgaaggcaccccgGaggaatgcctccagcatttc	8	8	11	14	2	1	0	0	0	1	0	4	3	2	2	4	3	2	3	4	3	2	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr17:78318718G>T	ENST00000582970.1	+	29	6726	c.6583G>T	c.(6583-6585)Gag>Tag	p.E2195*	RNF213_ENST00000508628.2_Nonsense_Mutation_p.E2244*|RNF213_ENST00000336301.6_Nonsense_Mutation_p.E268*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2195					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)			AGGCACCCCGGAGGAATGCCT	0.468																																																	0													94	95	95					17																	78318718		2203	4300	6503	SO:0001587	stop_gained	0			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.6583G>T	17.37:g.78318718G>T	ENSP00000464087:p.Glu2195*		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E2195*	ENST00000582970.1	37	c.6583	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	46	12.247570	0.99650	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	.	.	.	5.57	1.28	0.21552	.	0.770143	0.11896	N	0.519118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	8.2937	0.31973	0.1328:0.241:0.6262:0.0	.	.	.	.	X	2195;2244;268	.	ENSP00000338218:E268X	E	+	1	0	RNF213	75933313	0.054000	0.20591	0.000000	0.03702	0.136000	0.21042	2.389000	0.44407	0.282000	0.22254	-0.165000	0.13383	GAG	RNF213	-	NULL	ENSG00000173821		0.468	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	47	0	G	NM_020914		78318718	1			no_errors	ENST00000582970	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	0.002	T	T	78318718	G	T	78318718	4	4	169	1	0	0	0	0	0	1	0	0	13522	1175	41	3	7012	3	RNF213	17	78318718	Nonsense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	1926305	78318718	2876492	152	42630											
CBLN2	147381	genome.wustl.edu	37	chr18	70209175	70209175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtgacggcgccgtccGccgacgggctggagtcgcac	6	4	18	13	7	0	1	0	1	0	0	2	4	1	3	3	5	0	2	3	5	0	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr18:70209175G>A	ENST00000269503.4	-	3	994	c.221C>T	c.(220-222)gCg>gTg	p.A74V	CBLN2_ENST00000585159.1_Missense_Mutation_p.A74V|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	74					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GGCGCCGTCCGCCGACGGGCT	0.716																																																	0													29	27	28					18																	70209175		2201	4298	6499	SO:0001583	missense	0			BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.221C>T	18.37:g.70209175G>A	ENSP00000269503:p.Ala74Val		Q53Z56	Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.A74V	ENST00000269503.4	37	c.221	CCDS11999.1	18	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740037	0.69304	.	.	ENSG00000141668	ENST00000269503	D	0.82081	-1.57	4.54	2.52	0.30459	.	0.216529	0.39687	N	0.001282	T	0.72120	0.3421	L	0.32530	0.975	0.80722	D	1	P	0.39282	0.666	B	0.32583	0.148	T	0.74318	-0.3704	10	0.56958	D	0.05	-9.6841	13.5798	0.61896	0.0:0.3088:0.6912:0.0	.	74	Q8IUK8	CBLN2_HUMAN	V	74	ENSP00000269503:A74V	ENSP00000269503:A74V	A	-	2	0	CBLN2	68360155	1.000000	0.71417	0.493000	0.27502	0.996000	0.88848	5.979000	0.70508	0.997000	0.38969	0.462000	0.41574	GCG	CBLN2	-	NULL	ENSG00000141668		0.716	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN2	HGNC	protein_coding	OTTHUMT00000256288.1		0	44	0	G	NM_182511		70209175	-1			no_errors	ENST00000269503	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.997	A	A	70209175	G	A	70209175	3	1	169	1	0	0	0	0	1	0	0	0	2712	1087	38	1	465	1	CBLN2	18	70209175	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09		70209175	7868073	153	42631											
FAM108A1	81926	genome.wustl.edu	37	chr19	1881527	1881527	+	Frame_Shift_Del	DEL	G	G	-																															ccggggcagggcgggcagcaGaagaggcagcagagctcact																								rs377128884		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:1881527delG	ENST00000292577.7	-	2	472	c.39delC	c.(37-39)ttcfs	p.F13fs	ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.F13fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.F13fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.F13delF(1)									GCGGGCAGCAGAAGAGGCAGC	0.756																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)											9	13	11					19																	1881527		2041	4133	6174	SO:0001589	frameshift_variant	0			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.39delC	19.37:g.1881527delG	ENSP00000292577:p.Phe13fs		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	pfam_Dienelactn_hydro	p.C14fs	ENST00000292577.7	37	c.39	CCDS45902.1	19																																																																																			ABHD17A	-	NULL	ENSG00000129968		0.756	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2		0	20	0	G	NM_031213		1881527	-1			no_errors	ENST00000250974	ensembl	human	known	74_37	frame_shift_del	13.24	59	9	DEL	1.000	0	-	1881527	G	-	1881527	7	5	169	1	0	1	0	1	0	0	0	0	5410	933	33	0	1066	0	FAM108A1	19	1881527	Frame_Shift_Del	DEL	G	TCGA-VR-A8EY-01A-11D-A36J-09		1881527	57247456	154	42632	150	2									
FAM108A1	81926	genome.wustl.edu	37	chr19	1881529	1881530	+	Frame_Shift_Del	DEL	AG	AG	-																															ggggcagggcgggcagcagaAgaggcagcagagctcactca																										TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:1881529_1881530delAG	ENST00000292577.7	-	2	469_470	c.36_37delCT	c.(34-39)ctcttcfs	p.F13fs	ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.F13fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.F13fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGGCAGCAGAAGAGGCAGCAGA	0.762																																																	0																																										SO:0001589	frameshift_variant	0			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.36_37delCT	19.37:g.1881531_1881532delAG	ENSP00000292577:p.Phe13fs		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	pfam_Dienelactn_hydro	p.F13fs	ENST00000292577.7	37	c.37_36	CCDS45902.1	19																																																																																			ABHD17A	-	NULL	ENSG00000129968		0.762	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2		0	20	0	AG	NM_031213		1881530	-1			no_errors	ENST00000250974	ensembl	human	known	74_37	frame_shift_del	13.43	58	9	DEL	1.000:0.997	0	-	1881530	AG	-	1881529	7	5	169	1	0	1	0	1	0	0	0	0	5410	72	3	0	1068	0	FAM108A1	19	1881529	Frame_Shift_Del	DEL	AG	TCGA-VR-A8EY-01A-11D-A36J-09	2	1881529	57247454	155	42633	150	2									
ANKRD24	170961	genome.wustl.edu	37	chr19	4217366	4217366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttggaggaggctctcCggcagcgggagcgggaggca	6	5	21	9	3	1	0	0	0	1	0	2	4	1	4	1	8	2	4	1	8	0	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:4217366C>T	ENST00000600132.1	+	18	2485	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	ANKRD24_ENST00000262970.5_Missense_Mutation_p.R827W|ANKRD24_ENST00000318934.4_Missense_Mutation_p.R737W	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	737										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGAGGCTCTCcggcagcggga	0.692																																																	0																																										SO:0001583	missense	0			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2209C>T	19.37:g.4217366C>T	ENSP00000471252:p.Arg737Trp		O75268|O95781	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R737W	ENST00000600132.1	37	c.2209	CCDS45925.1	19	.	.	.	.	.	.	.	.	.	.	c	10.24	1.296239	0.23650	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.52526	0.74;0.66	4.34	-2.95	0.05564	.	.	.	.	.	T	0.23965	0.0580	N	0.14661	0.345	0.09310	N	0.999997	B;B	0.28082	0.127;0.2	B;B	0.21917	0.014;0.037	T	0.16070	-1.0415	9	0.46703	T	0.11	-12.0171	5.1749	0.15129	0.3992:0.4406:0.0:0.1602	.	737;827	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	W	737;827	ENSP00000321731:R737W;ENSP00000262970:R827W	ENSP00000262970:R827W	R	+	1	2	ANKRD24	4168366	0.000000	0.05858	0.009000	0.14445	0.514000	0.34195	-1.255000	0.02872	-0.202000	0.10268	0.462000	0.41574	CGG	ANKRD24	-	NULL	ENSG00000089847		0.692	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	-	0	51	0	C	XM_114000		4217366	1	tier1	-	no_errors	ENST00000318934	ensembl	human	known	74_37	missense	41.41	58	41	SNP	0.109	T	T	4217366	C	T	4217366	3	4	169	1	0	0	0	0	1	0	0	0	653	643	23	1	2275	1	ANKRD24	19	4217366	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	2335837	4217366	54911617	156	42634											
LONP1	257062	genome.wustl.edu	37	chr19	5719848	5719848	+	5'Flank	DEL	C	C	-																															cttccccggcgcccgcgctgCcccccgcgccgccggctcct																										TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:5719848delC	ENST00000381624.3	+	0	0				LONP1_ENST00000593119.1_Intron|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000590729.1_5'UTR|LONP1_ENST00000585374.1_Intron|LONP1_ENST00000590511.1_5'UTR|CATSPERD_ENST00000381614.2_5'Flank|LONP1_ENST00000360614.3_Frame_Shift_Del_p.G99fs	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta						multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											gcccgcgctgccccccgcgcc	0.741																																																	0													10	14	12					19																	5719848		2179	4255	6434	SO:0001631	upstream_gene_variant	0			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036		19.37:g.5719848delC	Exception_encountered		Q6ZRP1	Frame_Shift_Del	DEL	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.G99fs	ENST00000381624.3	37	c.296	CCDS12149.2	19																																																																																			LONP1	-	NULL	ENSG00000196365		0.741	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000286953.2		0	15	0	C	NM_152784		5719848	-1	tier1		no_errors	ENST00000360614	ensembl	human	known	74_37	frame_shift_del	40.00	21	14	DEL	0.154	-	-	5719848	C	-	5719848	6	5	169	0	1	1	0	1	0	0	0	0	8927	739	26	0		0	LONP1	19	5719848	5'Flank	DEL	C	TCGA-VR-A8EY-01A-11D-A36J-09	1502482	5719848	53409135	157	42635											
C3	718	genome.wustl.edu	37	chr19	6719280	6719280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagcacagtcttctcactgGacagcactagttttttgcct	8	14	7	12	0	3	0	2	0	2	0	4	1	3	1	1	1	3	3	1	1	1	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:6719280G>A	ENST00000245907.6	-	2	301	c.209C>T	c.(208-210)tCc>tTc	p.S70F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	70					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)	CTTCTCACTGGACAGCACTAG	0.602																																																	0													236	170	192					19																	6719280		2203	4300	6503	SO:0001583	missense	0			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.209C>T	19.37:g.6719280G>A	ENSP00000245907:p.Ser70Phe		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.S70F	ENST00000245907.6	37	c.209	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	G	0.953	-0.705779	0.03255	.	.	ENSG00000125730	ENST00000245907	T	0.78246	-1.16	5.37	-6.7	0.01766	.	1.618470	0.03485	N	0.215729	T	0.53674	0.1811	N	0.16602	0.42	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.46665	-0.9175	10	0.08837	T	0.75	.	4.2941	0.10892	0.4581:0.0:0.2199:0.3219	.	70	P01024	CO3_HUMAN	F	70	ENSP00000245907:S70F	ENSP00000245907:S70F	S	-	2	0	C3	6670280	0.009000	0.17119	0.296000	0.24974	0.023000	0.10783	0.152000	0.16302	-0.341000	0.08376	0.455000	0.32223	TCC	C3	-	NULL	ENSG00000125730		0.602	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	-	0	71	0	G	NM_000064		6719280	-1	tier1	-	no_errors	ENST00000245907	ensembl	human	known	74_37	missense	11.54	115	15	SNP	0.000	A	A	6719280	G	A	6719280	3	1	169	1	0	0	0	0	1	0	0	0	2211	1174	41	3	4942	3	C3	19	6719280	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	999432	6719280	52409703	158	42636											
C19orf44	84167	genome.wustl.edu	37	chr19	16613994	16613994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaacccttcacagcactcGctcaagagcagactacccac	13	5	6	17	1	2	3	2	0	0	3	3	3	2	3	2	0	4	3	2	0	3	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:16613994G>A	ENST00000221671.3	+	3	1034	c.878G>A	c.(877-879)cGc>cAc	p.R293H	C19orf44_ENST00000594035.1_Missense_Mutation_p.R293H|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	293										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CACAGCACTCGCTCAAGAGCA	0.547																																																	0													105	97	100					19																	16613994		2203	4300	6503	SO:0001583	missense	0			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.878G>A	19.37:g.16613994G>A	ENSP00000221671:p.Arg293His		Q8N6Y7	Missense_Mutation	SNP	NULL	p.R293H	ENST00000221671.3	37	c.878	CCDS12345.1	19	.	.	.	.	.	.	.	.	.	.	G	5.205	0.223420	0.09863	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.85	0.978	0.19740	.	1.164800	0.06119	N	0.668643	T	0.26085	0.0636	N	0.16478	0.41	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.09377	0.004;0.003	T	0.21930	-1.0231	9	0.28530	T	0.3	0.2368	6.4459	0.21875	0.0878:0.1371:0.6496:0.1255	.	293;293	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	H	293	.	ENSP00000221671:R293H	R	+	2	0	C19orf44	16474994	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.738000	0.26158	0.117000	0.18138	-2.067000	0.00394	CGC	C19orf44	-	NULL	ENSG00000105072		0.547	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf44	HGNC	protein_coding	OTTHUMT00000461218.1		0	22	0	G	NM_032207		16613994	1			no_errors	ENST00000221671	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.000	A	A	16613994	G	A	16613994	3	1	169	1	0	0	0	0	1	0	0	0	1934	1087	38	1	884	1	C19orf44	19	16613994	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	9894714	16613994	42514989	159	42637											
TMEM59L	25789	genome.wustl.edu	37	chr19	18726873	18726873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgtcaactcagcccaggGatttgtctcctccacctgga	7	11	8	15	0	3	0	2	0	1	0	5	2	4	2	5	2	2	0	5	2	1	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:18726873G>T	ENST00000600490.1	+	5	682	c.497G>T	c.(496-498)gGa>gTa	p.G166V	TMEM59L_ENST00000262817.3_Missense_Mutation_p.G166V			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	166						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						TCAGCCCAGGGATTTGTCTCC	0.542																																																	0													137	129	132					19																	18726873		2203	4300	6503	SO:0001583	missense	0			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 4"	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.497G>T	19.37:g.18726873G>T	ENSP00000470879:p.Gly166Val			Missense_Mutation	SNP	pfam_Uncharacterised_TMEM59	p.G166V	ENST00000600490.1	37	c.497	CCDS12383.1	19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070237	0.76301	.	.	ENSG00000105696	ENST00000262817	T	0.43688	0.94	5.11	4.05	0.47172	.	0.084716	0.85682	D	0.000000	T	0.41811	0.1175	N	0.22421	0.69	0.80722	D	1	D	0.54601	0.967	P	0.54174	0.744	T	0.39761	-0.9598	10	0.62326	D	0.03	-21.76	13.0124	0.58739	0.0797:0.0:0.9203:0.0	.	166	Q9UK28	TM59L_HUMAN	V	166	ENSP00000262817:G166V	ENSP00000262817:G166V	G	+	2	0	TMEM59L	18587873	1.000000	0.71417	0.967000	0.41034	0.941000	0.58515	6.947000	0.75959	1.136000	0.42199	0.491000	0.48974	GGA	TMEM59L	-	pfam_Uncharacterised_TMEM59	ENSG00000105696		0.542	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	TMEM59L	HGNC	protein_coding	OTTHUMT00000465143.2		0	43	0	G			18726873	1			no_errors	ENST00000262817	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	T	T	18726873	G	T	18726873	3	4	169	1	0	0	0	0	1	0	0	0	16233	1174	41	3	511	3	TMEM59L	19	18726873	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	2112879	18726873	40402110	160	42638											
ZNF430	80264	genome.wustl.edu	37	chr19	21240141	21240141	+	Nonsense_Mutation	SNP	A	A	T	1	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	agattattcatactggagagAaaccctacaaatgtgaagaa	18	9	8	6	0	1	4	1	1	0	3	1	6	1	5	1	1	3	0	1	1	7	4			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:21240141A>T	ENST00000261560.5	+	5	1208	c.1027A>T	c.(1027-1029)Aaa>Taa	p.K343*	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	343					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TACTGGAGAGAAACCCTACAA	0.388																																																	0													59	64	62					19																	21240141		2203	4291	6494	SO:0001587	stop_gained	0			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1027A>T	19.37:g.21240141A>T	ENSP00000261560:p.Lys343*		Q86V70	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K343*	ENST00000261560.5	37	c.1027	CCDS32978.1	19	.	.	.	.	.	.	.	.	.	.	.	22.1	4.246057	0.80024	.	.	ENSG00000118620	ENST00000261560	.	.	.	1.04	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9941	0.24772	1.0:0.0:0.0:0.0	.	.	.	.	X	343	.	ENSP00000261560:K343X	K	+	1	0	ZNF430	21031981	0.544000	0.26441	0.042000	0.18584	0.038000	0.13279	2.796000	0.47869	0.383000	0.24910	0.374000	0.22700	AAA	ZNF430	-	pfscan_Znf_C2H2	ENSG00000118620		0.388	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF430	HGNC	protein_coding	OTTHUMT00000463539.1	-	0	53	0	A	NM_025189		21240141	1	tier1	-	no_errors	ENST00000261560	ensembl	human	known	74_37	nonsense	27.45	36	14	SNP	1.000	T	T	21240141	A	T	21240141	4	4	169	1	0	0	0	0	0	1	0	0	17952	247	9	5	1045	5	ZNF430	19	21240141	Nonsense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	2513268	21240141	37888842	161	42639											
CAPNS1	826	genome.wustl.edu	37	chr19	36632054	36632054	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ggcggcggcggcggcggcggCggtggtggaggcggcggtgg	1	3	28	9	9	0	0	0	0	0	0	0	1	0	1	0	14	0	0	0	14	0	0	rs17879825		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000588780.1_Silent_p.G47G|CAPNS1_ENST00000588815.1_Silent_p.G47G|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Silent_p.G47G|CAPNS1_ENST00000587718.1_Silent_p.G47G|AD001527.7_ENST00000604228.1_RNA	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcggtggtggag	0.761																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)												0																																										SO:0001819	synonymous_variant	0			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.141C>T	19.37:g.36632054C>T			A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	pfscan_EF_hand_dom	p.G47	ENST00000246533.3	37	c.141	CCDS12489.1	19																																																																																			CAPNS1	-	NULL	ENSG00000126247		0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	HGNC	protein_coding	OTTHUMT00000457411.2		0	40	0	C			36632054	1			no_errors	ENST00000588780	ensembl	human	known	74_37	silent	11.84	65	9	SNP	0.020	T	T	36632054	C	T	36632054	2	4	169	1	0	0	0	0	0	0	0	1	2640	755	27	1		1	CAPNS1	19	36632054	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	15391913	36632054	22496929	162	42640											
ZNF527	84503	genome.wustl.edu	37	chr19	37879281	37879281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgaaatatcccaggaGatggtaatggaaaggctagc	16	7	13	5	0	0	3	0	1	0	2	1	6	1	4	1	4	1	2	1	4	6	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:37879281G>T	ENST00000436120.2	+	5	437	c.330G>T	c.(328-330)gaG>gaT	p.E110D	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	110	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|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)			TATCCCAGGAGATGGTAATGG	0.408																																																	0													69	65	66					19																	37879281		1858	4103	5961	SO:0001583	missense	0			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.330G>T	19.37:g.37879281G>T	ENSP00000390179:p.Glu110Asp		B4DVL5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E110D	ENST00000436120.2	37	c.330	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	G	2.193	-0.384767	0.04966	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.48	-6.75	0.01738	.	.	.	.	.	T	0.14227	0.0344	N	0.12746	0.255	0.09310	N	1	B;B	0.18310	0.016;0.027	B;B	0.14023	0.007;0.01	T	0.32241	-0.9914	8	0.13108	T	0.6	.	6.5587	0.22474	0.555:0.2613:0.1836:0.0	.	110;78	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	D	110;78;58	.	ENSP00000325231:E78D	E	+	3	2	ZNF527	42571121	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.133000	0.01308	-1.112000	0.02984	-0.251000	0.11542	GAG	ZNF527	-	NULL	ENSG00000189164		0.408	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	-	0	70	0	G	NM_032453		37879281	1	tier1	-	no_errors	ENST00000436120	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.000	T	T	37879281	G	T	37879281	3	4	169	1	0	0	0	0	1	0	0	0	18016	933	33	3	344	3	ZNF527	19	37879281	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	1247227	37879281	21249702	163	42641											
TOMM40	10452	genome.wustl.edu	37	chr19	45406379	45406379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttggggccttcctgaatCaccgcaagaacaagtttcag	10	9	9	13	1	2	2	2	1	0	1	3	2	3	2	4	2	1	2	4	2	4	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:45406379C>T	ENST00000426677.2	+	9	1219	c.1039C>T	c.(1039-1041)Cac>Tac	p.H347Y	APOE_ENST00000252486.4_5'Flank|TOMM40_ENST00000405636.2_Missense_Mutation_p.H347Y|TOMM40_ENST00000252487.5_Missense_Mutation_p.H347Y|TOMM40_ENST00000592434.1_3'UTR	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	347					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)		CTTCCTGAATCACCGCAAGAA	0.632																																																	0													76	68	71					19																	45406379		2203	4300	6503	SO:0001583	missense	0			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.1039C>T	19.37:g.45406379C>T	ENSP00000410339:p.His347Tyr		Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Missense_Mutation	SNP	pfam_Porin_Euk/Tom40	p.H347Y	ENST00000426677.2	37	c.1039	CCDS12646.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354672	0.82243	.	.	ENSG00000130204	ENST00000426677;ENST00000405636;ENST00000252487	T;T;T	0.45668	0.89;0.89;0.89	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	M	0.88377	2.95	0.58432	D	0.999999	D	0.65815	0.995	D	0.64595	0.927	T	0.75402	-0.3330	10	0.66056	D	0.02	-16.6372	14.6135	0.68531	0.0:1.0:0.0:0.0	.	347	O96008	TOM40_HUMAN	Y	347	ENSP00000410339:H347Y;ENSP00000385184:H347Y;ENSP00000252487:H347Y	ENSP00000252487:H347Y	H	+	1	0	TOMM40	50098219	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.476000	0.81055	2.009000	0.58944	0.561000	0.74099	CAC	TOMM40	-	pfam_Porin_Euk/Tom40	ENSG00000130204		0.632	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOMM40	HGNC	protein_coding	OTTHUMT00000453241.1	-	0	169	0	C			45406379	1	tier1	-	no_errors	ENST00000252487	ensembl	human	known	74_37	missense	35.29	110	60	SNP	1.000	T	T	45406379	C	T	45406379	3	4	169	1	0	0	0	0	1	0	0	0	16405	826	29	3	1073	3	TOMM40	19	45406379	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	7527098	45406379	13722604	164	42642											
KDELR1	10945	genome.wustl.edu	37	chr19	48887553	48887553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gaccaggcctgccacaatggCgatgaggtcgaagaagccct	11	5	13	12	2	0	2	0	1	0	1	1	5	0	2	4	3	2	0	4	3	3	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:48887553C>T	ENST00000330720.2	-	4	732	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	KDELR1_ENST00000597017.1_Missense_Mutation_p.A118T	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	180					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)	p.A180T(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GCCACAATGGCGATGAGGTCG	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)											73	63	66					19																	48887553		2203	4300	6503	SO:0001583	missense	0			X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.538G>A	19.37:g.48887553C>T	ENSP00000329471:p.Ala180Thr		B2R6N4|Q54A39|Q8NBW7	Missense_Mutation	SNP	pfam_ER_ret_rcpt,prints_ER_ret_rcpt	p.A180T	ENST00000330720.2	37	c.538	CCDS12718.1	19	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083507	0.76642	.	.	ENSG00000105438	ENST00000330720	T	0.77229	-1.08	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000014	T	0.76176	0.3951	M	0.78344	2.41	0.80722	D	1	P	0.42456	0.78	B	0.34536	0.185	T	0.80329	-0.1428	10	0.45353	T	0.12	.	16.8929	0.86092	0.0:1.0:0.0:0.0	.	180	P24390	ERD21_HUMAN	T	180	ENSP00000329471:A180T	ENSP00000329471:A180T	A	-	1	0	KDELR1	53579365	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	7.549000	0.82163	2.607000	0.88179	0.655000	0.94253	GCC	KDELR1	-	NULL	ENSG00000105438		0.532	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR1	HGNC	protein_coding	OTTHUMT00000465708.1		0	54	0	C			48887553	-1			no_errors	ENST00000330720	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T	T	48887553	C	T	48887553	3	4	169	1	0	0	0	0	1	0	0	0	8146	768	27	1	108	1	KDELR1	19	48887553	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	3481174	48887553	10241430	165	42643											
AP2A1	160	genome.wustl.edu	37	chr19	50302585	50302585	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggcccctgctggcagtGagcccaacctcctggttcgg	4	10	13	14	1	0	1	0	1	0	0	2	1	1	1	5	4	3	3	5	4	1	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:50302585G>T	ENST00000359032.5	+	9	967	c.967G>T	c.(967-969)Gag>Tag	p.E323*	AP2A1_ENST00000354293.5_Splice_Site_p.E323*	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	323					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)		TGCTGGCAGTGAGCCCAACCT	0.637																																																	0													20	22	22					19																	50302585		2033	4170	6203	SO:0001630	splice_region_variant	0			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.966-1G>T	19.37:g.50302585G>T			Q96CI7|Q96PP6|Q96PP7|Q9H070	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.E323*	ENST00000359032.5	37	c.967	CCDS46148.1	19	.	.	.	.	.	.	.	.	.	.	G	38	7.205514	0.98136	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	.	.	.	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.5794	0.76422	0.0:0.0:1.0:0.0	.	.	.	.	X	323	.	ENSP00000346246:E323X	E	+	1	0	AP2A1	54994397	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.740000	0.84986	2.211000	0.71520	0.561000	0.74099	GAG	AP2A1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu	ENSG00000196961		0.637	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1		0	21	0	G		Nonsense_Mutation	50302585	1			no_errors	ENST00000354293	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	T	T	50302585	G	T	50302585	5	4	169	1	0	0	0	0	0	0	1	0	739	1304	45	3	1001	3	AP2A1	19	50302585	Splice_Site	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	1415032	50302585	8826398	166	42644											
KLK7	5650	genome.wustl.edu	37	chr19	51483659	51483659	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctgtgtggagtagccGgggtggcggaatgacttcga	6	10	19	6	3	1	1	0	1	1	0	2	4	1	3	1	6	1	1	1	6	2	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:51483659G>A	ENST00000391807.1	-	4	407	c.306C>T	c.(304-306)ccC>ccT	p.P102P	KLK7_ENST00000597707.1_Silent_p.P30P|KLK7_ENST00000336317.4_5'UTR|KLK7_ENST00000595820.1_Silent_p.P102P|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595638.1_5'Flank	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)		TGGAGTAGCCGGGGTGGCGGA	0.577																																																	0													130	102	112					19																	51483659		2203	4300	6503	SO:0001819	synonymous_variant	0			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.306C>T	19.37:g.51483659G>A			A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	NULL	p.P53L	ENST00000391807.1	37	c.158	CCDS12812.1	19																																																																																			KLK7	-	NULL	ENSG00000169035		0.577	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK7	HGNC	protein_coding	OTTHUMT00000464344.1	-	0	55	0	G	NM_005046		51483659	-1	tier1	-	no_errors	ENST00000304045	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	A	A	51483659	G	A	51483659	2	1	169	1	0	0	0	0	0	0	0	1	8436	1103	39	1		1	KLK7	19	51483659	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	1181074	51483659	7645324	167	42645											
NLRP12	91662	genome.wustl.edu	37	chr19	54312981	54312981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagaccatgtgctccatCttggaggcaatgttgctgac	9	10	13	9	0	1	2	0	1	1	1	2	5	2	3	2	3	2	4	2	3	1	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:54312981C>A	ENST00000324134.6	-	3	2100	c.1932G>T	c.(1930-1932)aaG>aaT	p.K644N	NLRP12_ENST00000354278.3_Missense_Mutation_p.K644N|NLRP12_ENST00000391772.1_Missense_Mutation_p.K644N|NLRP12_ENST00000391775.3_Missense_Mutation_p.K644N|NLRP12_ENST00000535162.1_Missense_Mutation_p.K644N|NLRP12_ENST00000345770.5_Missense_Mutation_p.K644N|NLRP12_ENST00000351894.4_Missense_Mutation_p.K644N|NLRP12_ENST00000391773.1_Missense_Mutation_p.K644N	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	644					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)		TGTGCTCCATCTTGGAGGCAA	0.592																																																	0													75	67	70					19																	54312981		2203	4300	6503	SO:0001583	missense	0			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.1932G>T	19.37:g.54312981C>A	ENSP00000319377:p.Lys644Asn		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K644N	ENST00000324134.6	37	c.1932	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	C	5.490	0.275450	0.10403	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	4.05	0.401	0.16338	.	0.192717	0.25310	N	0.031586	D	0.83473	0.5262	L	0.53617	1.68	0.32180	N	0.580495	P;P;P;P	0.47191	0.747;0.747;0.891;0.679	B;B;B;B	0.37833	0.255;0.255;0.255;0.259	T	0.80044	-0.1547	10	0.36615	T	0.2	.	6.1624	0.20372	0.0:0.5282:0.3647:0.107	.	644;644;644;644	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	N	644	ENSP00000319377:K644N;ENSP00000438030:K644N;ENSP00000340473:K644N;ENSP00000346231:K644N;ENSP00000375655:K644N;ENSP00000375653:K644N;ENSP00000375652:K644N	ENSP00000319377:K644N	K	-	3	2	NLRP12	59004793	0.000000	0.05858	0.177000	0.23020	0.219000	0.24729	-0.491000	0.06474	-0.025000	0.13918	0.485000	0.47835	AAG	NLRP12	-	NULL	ENSG00000142405		0.592	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	-	0	32	0	C	NM_144687		54312981	-1	tier1	-	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	74.07	7	20	SNP	0.115	A	A	54312981	C	A	54312981	3	1	169	1	0	0	0	0	1	0	0	0	10513	912	32	3	1381	3	NLRP12	19	54312981	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	2829322	54312981	4816002	168	42646											
LILRA1	11024	genome.wustl.edu	37	chr19	55107747	55107747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtcagtcatgggggcCgttccacactttccttctga	5	13	11	12	1	3	1	2	1	1	0	5	1	5	1	3	2	0	2	3	2	0	3	rs368541946		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:55107747C>T	ENST00000251372.3	+	7	1234	c.1052C>T	c.(1051-1053)cCg>cTg	p.P351L	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	351	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCATGGGGGCCGTTCCACACT	0.582													g|||	1	0.000199681	0	0	5008	,	,		16247	0		0	False		,,,				2504	0.001																0													102	98	100					19																	55107747		2203	4300	6503	SO:0001583	missense	0			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.1052C>T	19.37:g.55107747C>T	ENSP00000251372:p.Pro351Leu		O75018|Q3MJA6	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.P351L	ENST00000251372.3	37	c.1052	CCDS12901.1	19	.	.	.	.	.	.	.	.	.	.	G	3.762	-0.049466	0.07407	.	.	ENSG00000104974	ENST00000251372	T	0.03124	4.04	1.4	-2.8	0.05823	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	60.265400	0.00166	N	0.000001	T	0.04407	0.0121	M	0.61703	1.905	0.09310	N	1	B	0.15930	0.015	B	0.13407	0.009	T	0.52215	-0.8605	10	0.09590	T	0.72	.	0.9875	0.01449	0.1452:0.314:0.2086:0.3322	.	351	O75019	LIRA1_HUMAN	L	351	ENSP00000251372:P351L	ENSP00000251372:P351L	P	+	2	0	LILRA1	59799559	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-11.777000	0.00003	-3.822000	0.00102	-2.577000	0.00169	CCG	LILRA1	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000104974		0.582	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	-	0	91	0	C	NM_006863		55107747	1	tier1	-	no_errors	ENST00000251372	ensembl	human	known	74_37	missense	64.06	23	41	SNP	0.000	T	T	55107747	C	T	55107747	3	4	169	1	0	0	0	0	1	0	0	0	8813	652	23	1	1074	1	LILRA1	19	55107747	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	794766	55107747	4021236	169	42647											
ZNF749	388567	genome.wustl.edu	37	chr19	57956324	57956324	+	Missense_Mutation	SNP	A	A	T	1	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	ctacaaacttgttattcatcAgagaattcacactggagaaa	16	11	6	8	0	3	2	3	0	0	2	3	4	3	2	0	1	2	1	0	1	5	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr19:57956324A>T	ENST00000334181.4	+	3	2058	c.1808A>T	c.(1807-1809)cAg>cTg	p.Q603L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	603					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)		GTTATTCATCAGAGAATTCAC	0.393																																																	0													64	69	67					19																	57956324		2203	4300	6503	SO:0001583	missense	0			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.1808A>T	19.37:g.57956324A>T	ENSP00000333980:p.Gln603Leu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q603L	ENST00000334181.4	37	c.1808	CCDS33132.2	19	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356287	0.61293	.	.	ENSG00000186230	ENST00000334181	T	0.42131	0.98	2.3	-2.66	0.06077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17238	0.0414	N	0.04335	-0.225	0.09310	N	1	B	0.22003	0.063	B	0.10450	0.005	T	0.16571	-1.0398	9	0.66056	D	0.02	.	4.3679	0.11233	0.6559:0.0:0.1763:0.1678	.	603	O43361	ZN749_HUMAN	L	603	ENSP00000333980:Q603L	ENSP00000333980:Q603L	Q	+	2	0	ZNF749	62648136	0.000000	0.05858	0.000000	0.03702	0.734000	0.41952	-0.836000	0.04382	-0.433000	0.07286	0.260000	0.18958	CAG	ZNF749	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186230		0.393	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1		0	69	0	A	NM_001023561		57956324	1			no_errors	ENST00000334181	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	T	T	57956324	A	T	57956324	3	4	169	1	0	0	0	0	1	0	0	0	18179	188	7	5	1818	5	ZNF749	19	57956324	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	2848577	57956324	1172659	170	42648											
C20orf96	140680	genome.wustl.edu	37	chr20	257898	257898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccttaacctgctgcagctggCgcataagagtggagatctgg	9	9	13	10	1	1	2	0	0	1	2	1	3	1	2	2	3	4	4	2	3	2	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr20:257898C>T	ENST00000360321.2	-	7	830	c.692G>A	c.(691-693)cGc>cAc	p.R231H	C20orf96_ENST00000382369.5_Missense_Mutation_p.R196H|C20orf96_ENST00000400269.3_Missense_Mutation_p.R173H	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	231										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)			CTGCAGCTGGCGCATAAGAGT	0.552																																																	0													146	147	147					20																	257898		2203	4300	6503	SO:0001583	missense	0			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.692G>A	20.37:g.257898C>T	ENSP00000353470:p.Arg231His		A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	NULL	p.R231H	ENST00000360321.2	37	c.692	CCDS12994.1	20	.	.	.	.	.	.	.	.	.	.	C	6.965	0.547985	0.13312	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.50813	0.73;0.73;0.73	4.95	3.02	0.34903	.	0.079971	0.46442	N	0.000283	T	0.32882	0.0844	L	0.38175	1.15	0.27082	N	0.963073	B;B;B;B	0.31640	0.333;0.333;0.333;0.333	B;B;B;B	0.25506	0.061;0.061;0.042;0.061	T	0.21690	-1.0238	10	0.56958	D	0.05	0.0323	7.8823	0.29629	0.0:0.8052:0.0:0.1948	.	173;196;231;196	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	H	196;231;173	ENSP00000371806:R196H;ENSP00000353470:R231H;ENSP00000383128:R173H	ENSP00000353470:R231H	R	-	2	0	C20orf96	205898	0.966000	0.33281	0.948000	0.38648	0.021000	0.10359	0.510000	0.22723	0.510000	0.28216	-0.657000	0.03884	CGC	C20orf96	-	NULL	ENSG00000196476		0.552	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf96	HGNC	protein_coding	OTTHUMT00000077439.2		0	24	0	C	NM_153269		257898	-1			no_errors	ENST00000360321	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.958	T	T	257898	C	T	257898	3	4	169	1	0	0	0	0	1	0	0	0	2129	768	27	1	419	1	C20orf96	20	257898	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09		257898	62767622	171	42649											
KIF3B	9371	genome.wustl.edu	37	chr20	30917958	30917958	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggcagaaaacattgtGctgttagagctggacatgcc	11	9	12	9	0	0	2	0	0	0	2	0	3	0	3	1	2	5	5	1	2	3	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr20:30917958G>T	ENST00000375712.3	+	8	2150	c.1983G>T	c.(1981-1983)gtG>gtT	p.V661V	KIF3B_ENST00000418717.2_Silent_p.V287V	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	661	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAAACATTGTGCTGTTAGAGC	0.567																																																	0													54	48	50					20																	30917958		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1983G>T	20.37:g.30917958G>T			B2RMP4|B4DSR5|E1P5M5	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V661	ENST00000375712.3	37	c.1983	CCDS13200.1	20																																																																																			KIF3B	-	NULL	ENSG00000101350		0.567	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	-	0	41	0	G	NM_004798		30917958	1	tier1	-	no_errors	ENST00000375712	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.729	T	T	30917958	G	T	30917958	2	4	169	1	0	0	0	0	0	0	0	1	8328	1306	46	3		3	KIF3B	20	30917958	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	30660060	30917958	32107562	172	42650											
SNTA1	6640	genome.wustl.edu	37	chr20	32026730	32026733	+	Frame_Shift_Del	DEL	ACAG	ACAG	-																															aggacaagtcttccccattcAcagacaggatggcatccccc																										TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	ACAG	ACAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr20:32026730_32026733delACAG	ENST00000217381.2	-	2	681_684	c.410_413delCTGT	c.(409-414)tctgtgfs	p.SV137fs		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	137	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TTCCCCATTCACAGACAGGATGGC	0.554																																																	0																																										SO:0001589	frameshift_variant	0			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.410_413delCTGT	20.37:g.32026734_32026737delACAG	ENSP00000217381:p.Ser137fs		A8K7H9|B4DX40|E1P5N1|Q16438	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.S137fs	ENST00000217381.2	37	c.413_410	CCDS13220.1	20																																																																																			SNTA1	-	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	ENSG00000101400		0.554	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTA1	HGNC	protein_coding	OTTHUMT00000078704.2		0	67	0	ACAG	NM_003098		32026733	-1	tier1		no_errors	ENST00000217381	ensembl	human	known	74_37	frame_shift_del	72.60	20	53	DEL	1.000:1.000:0.001:1.000	-	-	32026733	ACAG	-	32026730	7	5	169	1	0	1	0	1	0	0	0	0	14916	159	6	0	1132	0	SNTA1	20	32026730	Frame_Shift_Del	DEL	ACAG	TCGA-VR-A8EY-01A-11D-A36J-09	1108772	32026730	30998790	173	42651											
NCOA6	23054	genome.wustl.edu	37	chr20	33328745	33328745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ctgaggtgttcacctgagggCtagcctcatctggattcaat	8	12	11	10	0	4	2	3	2	1	0	4	3	4	3	2	3	1	2	2	3	2	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr20:33328745C>T	ENST00000374796.2	-	12	7885	c.5315G>A	c.(5314-5316)aGc>aAc	p.S1772N	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1772N			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1772	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						CACCTGAGGGCTAGCCTCATC	0.517																																																	0													88	85	86					20																	33328745		2203	4300	6503	SO:0001583	missense	0			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.5315G>A	20.37:g.33328745C>T	ENSP00000363929:p.Ser1772Asn		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.S1772N	ENST00000374796.2	37	c.5315	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	C	19.75	3.884999	0.72410	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.25250	1.81;1.81	5.65	4.7	0.59300	.	0.189811	0.47093	D	0.000256	T	0.18841	0.0452	N	0.19112	0.55	0.33572	D	0.598711	P	0.34522	0.455	B	0.32465	0.146	T	0.26155	-1.0111	10	0.54805	T	0.06	-1.0122	15.8794	0.79193	0.0:0.745:0.255:0.0	.	1772	Q14686	NCOA6_HUMAN	N	1772	ENSP00000363929:S1772N;ENSP00000351894:S1772N	ENSP00000351894:S1772N	S	-	2	0	NCOA6	32792406	0.977000	0.34250	1.000000	0.80357	0.994000	0.84299	1.382000	0.34374	1.616000	0.50265	0.655000	0.94253	AGC	NCOA6	-	NULL	ENSG00000198646		0.517	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2		0	68	0	C	NM_014071		33328745	-1			no_errors	ENST00000359003	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	33328745	C	T	33328745	3	4	169	1	0	0	0	0	1	0	0	0	10272	797	28	3	896	3	NCOA6	20	33328745	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	1302015	33328745	29696775	174	42652											
SALL4	57167	genome.wustl.edu	37	chr20	50405596	50405596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatccctggggacaatgtcGagggtcccacaaatgtgcca	10	8	11	12	1	1	0	1	0	0	0	4	2	3	1	3	3	1	0	3	3	2	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr20:50405596G>A	ENST00000217086.4	-	3	2657	c.2546C>T	c.(2545-2547)tCg>tTg	p.S849L	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Missense_Mutation_p.S72L|SALL4_ENST00000395997.3_Missense_Mutation_p.S412L	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	849					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						GGACAATGTCGAGGGTCCCAC	0.582																																																	0													57	56	56					20																	50405596		2203	4300	6503	SO:0001583	missense	0			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.2546C>T	20.37:g.50405596G>A	ENSP00000217086:p.Ser849Leu		A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S849L	ENST00000217086.4	37	c.2546	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512198	0.27036	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.09817	2.94;3.17;3.19	5.73	4.76	0.60689	.	0.578709	0.14515	N	0.314814	T	0.04724	0.0128	N	0.01352	-0.895	0.27134	N	0.961818	B;B;B	0.24426	0.103;0.001;0.103	B;B;B	0.19666	0.011;0.0;0.026	T	0.35943	-0.9768	10	0.22109	T	0.4	-1.8184	16.5199	0.84311	0.0:0.131:0.869:0.0	.	412;72;849	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	L	849;412;72	ENSP00000217086:S849L;ENSP00000379319:S412L;ENSP00000360594:S72L	ENSP00000217086:S849L	S	-	2	0	SALL4	49839003	0.864000	0.29904	0.450000	0.26969	0.806000	0.45545	4.231000	0.58639	1.363000	0.46019	0.655000	0.94253	TCG	SALL4	-	NULL	ENSG00000101115		0.582	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	-	0	39	0	G			50405596	-1	tier1	-	no_errors	ENST00000217086	ensembl	human	known	74_37	missense	45.71	19	16	SNP	0.949	A	A	50405596	G	A	50405596	3	1	169	1	0	0	0	0	1	0	0	0	13858	1059	37	1	623	1	SALL4	20	50405596	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	17076851	50405596	12619924	175	42653											
DNAJC5	80331	genome.wustl.edu	37	chr20	62562301	62562301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	cgggaagtgtaagcccaaggCgcctgaaggcgaggagacgg	11	3	18	9	4	0	2	0	1	0	1	0	5	0	3	2	5	1	1	2	5	4	1	rs144915847		TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr20:62562301C>A	ENST00000360864.4	+	4	572	c.419C>A	c.(418-420)gCg>gAg	p.A140E	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A140E	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	140					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)					AAGCCCAAGGCGCCTGAAGGC	0.637																																																	0													101	83	89					20																	62562301		2203	4299	6502	SO:0001583	missense	0				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.419C>A	20.37:g.62562301C>A	ENSP00000354111:p.Ala140Glu		A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.A140E	ENST00000360864.4	37	c.419	CCDS13546.1	20	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136209	0.56936	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.69561	-0.41;-0.4	5.91	5.91	0.95273	.	0.153219	0.64402	D	0.000014	T	0.65004	0.2650	L	0.42245	1.32	0.49483	D	0.999793	B;B	0.24368	0.102;0.101	B;B	0.29942	0.109;0.061	T	0.58250	-0.7669	10	0.37606	T	0.19	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	140;140	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	E	140	ENSP00000358927:A140E;ENSP00000354111:A140E	ENSP00000354111:A140E	A	+	2	0	DNAJC5	62032745	1.000000	0.71417	0.752000	0.31206	0.188000	0.23474	5.197000	0.65141	2.808000	0.96608	0.655000	0.94253	GCG	DNAJC5	-	NULL	ENSG00000101152		0.637	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC5	HGNC	protein_coding	OTTHUMT00000080244.1		0	24	0	C	NM_025219		62562301	1			no_errors	ENST00000360864	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	62562301	C	A	62562301	3	1	169	1	0	0	0	0	1	0	0	0	4664	768	27	2	429	2	DNAJC5	20	62562301	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	12156705	62562301	463219	176	42654											
TPTE	7179	genome.wustl.edu	37	chr21	10910363	10910363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtagaccgtcgaatacatCaattaatattttgtctgttg	12	15	8	6	2	2	1	1	0	1	1	3	2	2	1	1	1	1	2	1	1	6	7			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr21:10910363C>T	ENST00000361285.4	-	22	1722	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	TPTE_ENST00000342420.5_Missense_Mutation_p.D427N|TPTE_ENST00000298232.7_Missense_Mutation_p.D447N|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	465	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCGAATACATCAATTAATATT	0.348																																																	0													251	224	233					21																	10910363		2203	4300	6503	SO:0001583	missense	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1393G>A	21.37:g.10910363C>T	ENSP00000355208:p.Asp465Asn		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D465N	ENST00000361285.4	37	c.1393	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.214496	0.00289	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.84589	-1.87;-1.87;-1.87	2.25	-4.5	0.03493	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.831203	0.10819	N	0.630754	T	0.59851	0.2224	N	0.05259	-0.085	0.09310	N	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.08055	0.002;0.002;0.003	T	0.33752	-0.9856	10	0.11485	T	0.65	0.3726	2.1387	0.03769	0.1089:0.167:0.3025:0.4216	.	427;447;465	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	447;465;427	ENSP00000298232:D447N;ENSP00000355208:D465N;ENSP00000344441:D427N	ENSP00000298232:D447N	D	-	1	0	TPTE	9932234	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.293000	0.02770	-4.057000	0.00077	-1.140000	0.01884	GAT	TPTE	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom	ENSG00000166157		0.348	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	-	0	127	0	C			10910363	-1	tier1	-	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	9.09	230	23	SNP	0.000	T	T	10910363	C	T	10910363	3	4	169	1	0	0	0	0	1	0	0	0	16478	826	29	3	274	3	TPTE	21	10910363	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09		10910363	37219532	177	42655											
USP25	29761	genome.wustl.edu	37	chr21	17191133	17191133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggagaaattgagtctttaCattcagagaattcaggaaaa	18	10	9	4	0	3	3	2	1	1	2	3	6	3	4	0	2	1	0	0	2	6	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr21:17191133C>G	ENST00000285679.6	+	10	1417	c.1048C>G	c.(1048-1050)Cat>Gat	p.H350D	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.H350D|USP25_ENST00000285681.2_Missense_Mutation_p.H350D	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	350	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)		TGAGTCTTTACATTCAGAGAA	0.403																																																	0													157	154	155					21																	17191133		2203	4300	6503	SO:0001583	missense	0			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.1048C>G	21.37:g.17191133C>G	ENSP00000285679:p.His350Asp		C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.H350D	ENST00000285679.6	37	c.1048	CCDS33515.1	21	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607281	0.46527	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.74209	-0.82;-0.82;-0.82	4.93	4.93	0.64822	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.212421	0.47455	D	0.000230	T	0.63838	0.2545	N	0.20610	0.595	0.80722	D	1	B;B;B	0.31383	0.321;0.125;0.042	B;B;B	0.32624	0.098;0.149;0.067	T	0.62067	-0.6932	10	0.34782	T	0.22	.	18.7306	0.91734	0.0:1.0:0.0:0.0	.	350;350;350	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	D	350	ENSP00000285681:H350D;ENSP00000285679:H350D;ENSP00000383044:H350D	ENSP00000285679:H350D	H	+	1	0	USP25	16113004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.973000	0.76116	2.746000	0.94184	0.655000	0.94253	CAT	USP25	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000155313		0.403	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP25	HGNC	protein_coding	OTTHUMT00000157964.1	-	0	65	0	C			17191133	1	tier1	-	no_errors	ENST00000400183	ensembl	human	known	74_37	missense	37.65	53	32	SNP	1.000	G	G	17191133	C	G	17191133	3	3	169	1	0	0	0	0	1	0	0	0	17105	478	17	5	1086	5	USP25	21	17191133	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	6280770	17191133	30938762	178	42656											
CECR2	27443	genome.wustl.edu	37	chr22	17978486	17978486	+	Silent	SNP	C	C	T	0	0	0	1	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	gtggagccattgggtgaagaCaattctggggcactatattg	10	11	14	6	0	1	2	0	1	1	1	1	3	1	3	1	4	1	1	1	4	4	5			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr22:17978486C>T	ENST00000400573.5	+	4	391	c.384C>T	c.(382-384)gaC>gaT	p.D128D	CECR2_ENST00000262608.8_Silent_p.D109D|CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000342247.5_Silent_p.D108D			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	150					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)		TGGGTGAAGACAATTCTGGGG	0.493																																																	0													96	92	93					22																	17978486		1874	4111	5985	SO:0001819	synonymous_variant	0			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	ENST00000400573.5:c.384C>T	22.37:g.17978486C>T			A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.D128	ENST00000400573.5	37	c.384		22																																																																																			CECR2	-	NULL	ENSG00000099954		0.493	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316104.5	-	0	40	0	C	NM_031413		17978486	1	tier1	-	no_errors	ENST00000400573	ensembl	human	novel	74_37	silent	44.44	25	20	SNP	0.995	T	T	17978486	C	T	17978486	2	4	169	1	0	0	0	0	0	0	0	1	3213	477	17	3		3	CECR2	22	17978486	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09		17978486	33326080	179	42657											
ADORA2A	135	genome.wustl.edu	37	chr22	24836725	24836725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtggcctgtctctttgaGgatgtggtccccatgaacta	8	12	11	10	0	1	2	0	2	1	0	3	3	2	3	3	3	1	0	3	3	3	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr22:24836725G>T	ENST00000337539.7	+	3	966	c.507G>T	c.(505-507)gaG>gaT	p.E169D	ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|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	169	Agonist binding.				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)	GTCTCTTTGAGGATGTGGTCC	0.572																																																	0													208	193	198					22																	24836725		2203	4300	6503	SO:0001583	missense	0			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.507G>T	22.37:g.24836725G>T	ENSP00000336630:p.Glu169Asp		B2R7E0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.E169D	ENST00000337539.7	37	c.507	CCDS13826.1	22	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451977	0.43531	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.37058	1.22;1.22	4.68	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	L	0.53780	1.695	0.49483	D	0.999794	D	0.57571	0.98	P	0.57468	0.821	T	0.42310	-0.9459	10	0.46703	T	0.11	-31.1264	11.9795	0.53111	0.0848:0.0:0.9152:0.0	.	169	P29274	AA2AR_HUMAN	D	169	ENSP00000414802:E169D;ENSP00000336630:E169D	ENSP00000336630:E169D	E	+	3	2	ADORA2A	23166725	1.000000	0.71417	0.884000	0.34674	0.898000	0.52572	4.623000	0.61247	1.091000	0.41335	0.462000	0.41574	GAG	ADORA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt	ENSG00000128271		0.572	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2A	HGNC	protein_coding	OTTHUMT00000319971.2	-	0	35	0	G	NM_000675		24836725	1	tier1	-	no_errors	ENST00000337539	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	24836725	G	T	24836725	3	4	169	1	0	0	0	0	1	0	0	0	327	991	35	3	513	3	ADORA2A	22	24836725	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	6858239	24836725	26467841	180	42658											
NF2	4771	genome.wustl.edu	37	chr22	30070824	30070824	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctcatcctttccttgcaGggccaaagaggcagatcagc	10	9	9	13	0	2	2	2	0	1	2	5	2	4	2	3	2	2	2	3	2	1	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr22:30070824G>T	ENST00000338641.4	+	13	1781		c.e13-1		NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000347330.5_Splice_Site|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000403435.1_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						TTTCCTTGCAGGGCCAAAGAG	0.597			"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)	GRCh37	CS961643	NF2	S							28	25	26					22																	30070824		2187	4248	6435	SO:0001630	splice_region_variant	0	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.1341-1G>T	22.37:g.30070824G>T			O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	-	e13-1	ENST00000338641.4	37	c.1341-1	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	G	31	5.073228	0.94000	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.605	0.95577	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28400824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.860000	0.99555	2.635000	0.89317	0.655000	0.94253	.	NF2	-	-	ENSG00000186575		0.597	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3	-	0	28	0	G	NM_000268	Intron	30070824	1	tier1	-	no_errors	ENST00000338641	ensembl	human	known	74_37	splice_site	9.09	40	4	SNP	1.000	T	T	30070824	G	T	30070824	5	4	169	1	0	0	0	0	0	0	1	0	10396	1014	35	3	1390	3	NF2	22	30070824	Splice_Site	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	5234099	30070824	21233742	181	42659											
SUN2	25777	genome.wustl.edu	37	chr22	39134598	39134598	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacagatactcacaaagatGgcgaagtccttgggggcact	12	7	13	9	1	1	2	1	0	0	2	2	4	2	3	1	4	1	1	1	4	3	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr22:39134598G>T	ENST00000405510.1	-	17	2299	c.1941C>A	c.(1939-1941)gcC>gcA	p.A647A	RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000411587.2_Silent_p.A636A|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Silent_p.A647A|RP3-508I15.19_ENST00000418803.1_RNA|RP3-508I15.20_ENST00000609428.1_RNA|SUN2_ENST00000405018.1_Silent_p.A668A|SUN2_ENST00000406622.1_Silent_p.A647A	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	647	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TCACAAAGATGGCGAAGTCCT	0.607																																																	0													75	73	74					22																	39134598		2200	4296	6496	SO:0001819	synonymous_variant	0			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1941C>A	22.37:g.39134598G>T			B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.A647	ENST00000405510.1	37	c.1941	CCDS13978.1	22																																																																																			SUN2	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	ENSG00000100242		0.607	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	-	0	68	0	G	XM_039332		39134598	-1	tier1	-	no_errors	ENST00000216064	ensembl	human	known	74_37	silent	6.90	53	4	SNP	0.118	T	T	39134598	G	T	39134598	2	4	169	1	0	0	0	0	0	0	0	1	15439	1335	47	3		3	SUN2	22	39134598	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	9063774	39134598	12169968	182	42660											
CACNA1I	8911	genome.wustl.edu	37	chr22	40036971	40036971	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacaatgggataatgggctgCcatgagatccccccgctcaa	11	7	11	12	1	1	1	1	1	0	1	2	4	2	2	4	2	1	2	4	2	3	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr22:40036971C>A	ENST00000402142.3	+	6	840	c.840C>A	c.(838-840)tgC>tgA	p.C280*	CACNA1I_ENST00000336649.4_Nonsense_Mutation_p.C280*|CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.C280*|CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.C280*|CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.C280*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.C280*	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	280					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)	TAATGGGCTGCCATGAGATCC	0.627																																																	0													48	55	53					22																	40036971		2074	4213	6287	SO:0001587	stop_gained	0			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.840C>A	22.37:g.40036971C>A	ENSP00000385019:p.Cys280*		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.C280*	ENST00000402142.3	37	c.840	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.711324	0.96821	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	.	.	.	4.99	2.84	0.33178	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	9.9887	0.41856	0.0:0.7645:0.0:0.2355	.	.	.	.	X	280	.	ENSP00000337829:C280X	C	+	3	2	CACNA1I	38366917	0.450000	0.25697	1.000000	0.80357	0.951000	0.60555	0.382000	0.20635	0.494000	0.27859	0.563000	0.77884	TGC	CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.627	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1		0	42	0	C	NM_001003406		40036971	1			no_errors	ENST00000336649	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	A	A	40036971	C	A	40036971	4	1	169	1	0	0	0	0	0	1	0	0	2553	747	26	3	862	3	CACNA1I	22	40036971	Nonsense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	902373	40036971	11267595	183	42661											
MOV10L1	54456	genome.wustl.edu	37	chr22	50582669	50582669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgccacctgcaggttcgaGgaggtgagcccttggtgcaa	9	7	14	11	2	0	1	0	1	0	0	1	3	0	2	3	4	4	3	3	4	2	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr22:50582669G>T	ENST00000262794.5	+	18	2585	c.2502G>T	c.(2500-2502)gaG>gaT	p.E834D	MOV10L1_ENST00000540615.1_Missense_Mutation_p.E814D|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E834D|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E834D	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	834					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)		GCAGGTTCGAGGAGGTGAGCC	0.642																																																	0													54	49	51					22																	50582669		2203	4300	6503	SO:0001583	missense	0			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.2502G>T	22.37:g.50582669G>T	ENSP00000262794:p.Glu834Asp		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold	p.E834D	ENST00000262794.5	37	c.2502	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212842	0.39102	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.51	0.992	0.19819	.	0.368772	0.32416	N	0.006127	T	0.74733	0.3755	L	0.37630	1.12	0.80722	D	1	P;P;P	0.51653	0.565;0.947;0.619	B;P;B	0.51101	0.222;0.659;0.245	T	0.67616	-0.5625	10	0.16420	T	0.52	-34.7607	3.879	0.09069	0.4442:0.1821:0.3738:0.0	.	814;834;834	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	D	834;834;834;814	ENSP00000438978:E834D;ENSP00000262794:E834D;ENSP00000379199:E834D;ENSP00000438542:E814D	ENSP00000262794:E834D	E	+	3	2	MOV10L1	48924796	1.000000	0.71417	0.966000	0.40874	0.553000	0.35397	1.276000	0.33156	0.338000	0.23692	0.650000	0.86243	GAG	MOV10L1	-	superfamily_P-loop_NTPase	ENSG00000073146		0.642	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2		0	20	0	G	NM_018995		50582669	1			no_errors	ENST00000262794	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.995	T	T	50582669	G	T	50582669	3	4	169	1	0	0	0	0	1	0	0	0	9757	991	35	3	2613	3	MOV10L1	22	50582669	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	10545698	50582669	721897	184	42662											
PLXNB2	23654	genome.wustl.edu	37	chr22	50728207	50728207	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagcggcgtggatgtcGgggtcccggcactgcaggtc	6	6	18	11	4	0	0	0	0	0	0	3	1	1	1	1	7	2	3	1	7	1	0	rs543105336	byFrequency	TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chr22:50728207G>T	ENST00000449103.1	-	3	947	c.807C>A	c.(805-807)ccC>ccA	p.P269P	PLXNB2_ENST00000359337.4_Silent_p.P269P			O15031	PLXB2_HUMAN	plexin B2	269	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)		CGTGGATGTCGGGGTCCCGGC	0.652																																																	0													38	42	40					22																	50728207		2060	4176	6236	SO:0001819	synonymous_variant	0				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.807C>A	22.37:g.50728207G>T			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.P269	ENST00000449103.1	37	c.807	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000196576		0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0	40	0	G	NM_012401		50728207	-1			no_errors	ENST00000359337	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.002	T	T	50728207	G	T	50728207	2	4	169	1	0	0	0	0	0	0	0	1	12163	1103	39	2		2	PLXNB2	22	50728207	Silent	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	145538	50728207	576359	185	42663											
PHEX	5251	genome.wustl.edu	37	chrX	22117197	22117197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgaaagacatcagcccctCcgagaatgtggtggtccgcg	9	8	12	12	3	2	3	1	1	1	2	4	4	4	3	4	2	1	0	4	2	2	0			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chrX:22117197C>T	ENST00000379374.4	+	9	1572	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	PHEX_ENST00000535894.1_Missense_Mutation_p.S239F|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.S336F|PHEX_ENST00000418858.3_Missense_Mutation_p.S39F	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	336					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ATCAGCCCCTCCGAGAATGTG	0.453																																																	0													131	117	122					X																	22117197		2203	4300	6503	SO:0001583	missense	0			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1007C>T	X.37:g.22117197C>T	ENSP00000368682:p.Ser336Phe		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.S336F	ENST00000379374.4	37	c.1007	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532636	0.64972	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.46	5.46	0.80206	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.952;0.972	D	0.85809	0.1378	10	0.54805	T	0.06	.	18.3837	0.90459	0.0:1.0:0.0:0.0	.	336;336	F5GXU4;P78562	.;PHEX_HUMAN	F	336;336;239;39	ENSP00000368682:S336F;ENSP00000440362:S336F;ENSP00000439418:S239F;ENSP00000443531:S39F	ENSP00000368682:S336F	S	+	2	0	PHEX	22027118	1.000000	0.71417	0.976000	0.42696	0.831000	0.47069	6.013000	0.70776	2.282000	0.76494	0.529000	0.55759	TCC	PHEX	-	pfam_Peptidase_M13_N	ENSG00000102174		0.453	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	-	0	96	0	C	NM_000444		22117197	1	tier1	-	no_errors	ENST00000379374	ensembl	human	known	74_37	missense	28.37	101	40	SNP	1.000	T	T	22117197	C	T	22117197	3	4	169	1	0	0	0	0	1	0	0	0	11858	855	30	3	1041	3	PHEX	23	22117197	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09		22117197	133153363	186	42664											
ZC3H12B	340554	genome.wustl.edu	37	chrX	64721861	64721861	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagataacctcagaggtcaAacgtgtggcccccaagcgcc	11	6	11	13	2	2	2	2	1	0	2	2	3	2	2	4	2	3	0	4	2	3	1			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chrX:64721861A>G	ENST00000338957.4	+	5	1350	c.1283A>G	c.(1282-1284)aAa>aGa	p.K428R	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.K417R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	428							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAGAGGTCAAACGTGTGGCC	0.547																																																	0													71	75	73					X																	64721861		2030	4163	6193	SO:0001583	missense	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1283A>G	X.37:g.64721861A>G	ENSP00000340839:p.Lys428Arg		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.K428R	ENST00000338957.4	37	c.1283	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	A	12.31	1.899805	0.33535	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.27256	1.68;1.69	5.22	5.22	0.72569	.	0.186507	0.56097	D	0.000032	T	0.28797	0.0714	M	0.70275	2.135	0.45295	D	0.998293	B	0.30664	0.289	B	0.23716	0.048	T	0.07751	-1.0756	10	0.54805	T	0.06	-31.5616	12.9323	0.58294	1.0:0.0:0.0:0.0	.	417	Q5HYM0	ZC12B_HUMAN	R	428;417;364	ENSP00000340839:K428R;ENSP00000408077:K417R	ENSP00000218172:K364R	K	+	2	0	ZC3H12B	64638586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.058000	0.71126	1.734000	0.51633	0.417000	0.27973	AAA	ZC3H12B	-	NULL	ENSG00000102053		0.547	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	-	0	51	0	A	XM_293334		64721861	1	tier1	-	no_errors	ENST00000338957	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	G	G	64721861	A	G	64721861	3	3	169	1	0	0	0	0	1	0	0	0	17610	14	1	4	1301	4	ZC3H12B	23	64721861	Missense_Mutation	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	42604664	64721861	90548699	187	42665											
NXF5	55998	genome.wustl.edu	37	chrX	101095814	101095814	+	Silent	SNP	A	A	G	1	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	ggagccttctctgtaatgtcAgaaaggccatccagctggta	10	10	11	10	0	2	1	1	0	1	1	4	2	3	2	3	3	2	3	3	3	3	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chrX:101095814A>G	ENST00000361708.2	-	9	893	c.534T>C	c.(532-534)tcT>tcC	p.S178S	NXF5_ENST00000473265.2_Silent_p.S178S|NXF5_ENST00000537026.1_Silent_p.S178S			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	178					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CTGTAATGTCAGAAAGGCCAT	0.488																																																	0													82	71	75					X																	101095814		2202	4298	6500	SO:0001819	synonymous_variant	0			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.534T>C	X.37:g.101095814A>G			A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Silent	SNP	pfam_Tap_RNA-bd	p.S178	ENST00000361708.2	37	c.534		X																																																																																			NXF5	-	NULL	ENSG00000126952		0.488	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		-	0	201	0	A			101095814	-1	tier1	-	no_errors	ENST00000263032	ensembl	human	known	74_37	silent	40.23	159	107	SNP	0.986	G	G	101095814	A	G	101095814	2	3	169	1	0	0	0	0	0	0	0	1	10825	175	7	4		4	NXF5	23	101095814	Silent	SNP	A	TCGA-VR-A8EY-01A-11D-A36J-09	36373953	101095814	54174746	188	42666											
MORC4	79710	genome.wustl.edu	37	chrX	106224144	106224144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggtaggtttatatgtatCatattctacattggccaggc	11	14	10	6	0	2	0	1	0	1	0	2	1	2	0	1	4	1	3	1	4	7	9			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chrX:106224144C>G	ENST00000355610.4	-	7	1187	c.913G>C	c.(913-915)Gat>Cat	p.D305H	MORC4_ENST00000255495.7_Missense_Mutation_p.D305H|MORC4_ENST00000535534.1_Missense_Mutation_p.D53H	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	305						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						TTATATGTATCATATTCTACA	0.378																																																	0													217	181	193					X																	106224144		2203	4300	6503	SO:0001583	missense	0			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.913G>C	X.37:g.106224144C>G	ENSP00000347821:p.Asp305His		A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW	p.D305H	ENST00000355610.4	37	c.913	CCDS14525.2	X	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574764	0.86542	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.33654	2.65;1.4;2.64	5.25	5.25	0.73442	ATPase-like, ATP-binding domain (1);	0.106709	0.64402	D	0.000010	T	0.49525	0.1562	M	0.66506	2.035	0.42482	D	0.992867	D;D;D	0.61080	0.986;0.975;0.989	P;P;P	0.53722	0.733;0.522;0.714	T	0.53634	-0.8411	10	0.66056	D	0.02	-6.4837	13.5938	0.61978	0.0:1.0:0.0:0.0	.	53;305;305	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	H	305;53;305	ENSP00000347821:D305H;ENSP00000440359:D53H;ENSP00000255495:D305H	ENSP00000255495:D305H	D	-	1	0	MORC4	106110800	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	5.306000	0.65756	2.519000	0.84933	0.538000	0.68166	GAT	MORC4	-	superfamily_HATPase_ATP-bd	ENSG00000133131		0.378	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORC4	HGNC	protein_coding	OTTHUMT00000057816.3	-	0	87	0	C	NM_024657		106224144	-1	tier1	-	no_errors	ENST00000355610	ensembl	human	known	74_37	missense	44.32	49	39	SNP	1.000	G	G	106224144	C	G	106224144	3	3	169	1	0	0	0	0	1	0	0	0	9742	826	29	5	1944	5	MORC4	23	106224144	Missense_Mutation	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	5128330	106224144	49046416	189	42667											
NKAP	79576	genome.wustl.edu	37	chrX	119066177	119066177	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctctttttcttatatttcTtcctatagggattttaattt	8	23	3	7	0	3	0	0	0	3	0	4	1	4	1	2	1	0	0	2	1	5	11			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chrX:119066177T>C	ENST00000371410.3	-	6	906	c.740A>G	c.(739-741)aAg>aGg	p.K247R	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	247	Lys-rich.|Necessary for interaction with CIR1.				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						CTTATATTTCTTCCTATAGGG	0.323																																																	0													87	86	86					X																	119066177		2203	4299	6502	SO:0001583	missense	0			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.740A>G	X.37:g.119066177T>C	ENSP00000360464:p.Lys247Arg		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	pfam_DUF926	p.K247R	ENST00000371410.3	37	c.740	CCDS14592.1	X	.	.	.	.	.	.	.	.	.	.	T	12.07	1.826814	0.32329	.	.	ENSG00000101882	ENST00000371410	T	0.16897	2.31	4.94	3.77	0.43336	.	0.092711	0.64402	N	0.000001	T	0.12220	0.0297	L	0.38531	1.155	0.80722	D	1	B;B	0.27997	0.06;0.197	B;B	0.25614	0.018;0.062	T	0.12708	-1.0537	10	0.20046	T	0.44	-13.8233	9.2539	0.37571	0.0:0.0868:0.0:0.9132	.	247;247	Q8N5F7;A0PJ73	NKAP_HUMAN;.	R	247	ENSP00000360464:K247R	ENSP00000360464:K247R	K	-	2	0	NKAP	118950205	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	6.713000	0.74686	0.666000	0.31087	0.345000	0.21793	AAG	NKAP	-	NULL	ENSG00000101882		0.323	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAP	HGNC	protein_coding	OTTHUMT00000058072.1	-	0	22	0	T	NM_024528		119066177	-1	tier1	-	no_errors	ENST00000371410	ensembl	human	known	74_37	missense	32.05	53	25	SNP	1.000	C	C	119066177	T	C	119066177	3	2	169	1	0	0	0	0	1	0	0	0	10478	1609	56	4	523	4	NKAP	23	119066177	Missense_Mutation	SNP	T	TCGA-VR-A8EY-01A-11D-A36J-09	12842033	119066177	36204383	190	42668											
MAGEC1	9947	genome.wustl.edu	37	chrX	140993814	140993814	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccgctccttctcctcCactttattgagtattttcca	6	16	6	13	1	1	2	0	2	1	0	5	2	4	2	5	0	1	2	5	0	2	7			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chrX:140993814C>G	ENST00000285879.4	+	4	910	c.624C>G	c.(622-624)tcC>tcG	p.S208S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	208										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)					CCTTCTCCTCCACTTTATTGA	0.493										HNSCC(15;0.026)																																							0																																										SO:0001819	synonymous_variant	0			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.624C>G	X.37:g.140993814C>G			A0PK03|O75451|Q8TCV4	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.S208	ENST00000285879.4	37	c.624	CCDS35417.1	X																																																																																			MAGEC1	-	NULL	ENSG00000155495		0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0	324	0	C	NM_005462		140993814	1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	silent	16.71	319	64	SNP	0.851	G	G	140993814	C	G	140993814	2	3	169	1	0	0	0	0	0	0	0	1	9218	581	21	5		5	MAGEC1	23	140993814	Silent	SNP	C	TCGA-VR-A8EY-01A-11D-A36J-09	21927637	140993814	14276746	191	42669											
MAMLD1	10046	genome.wustl.edu	37	chrX	149639249	149639249	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aagctctctagcccaggcttGccacagcagtccttcacccc	8	8	7	18	0	2	0	1	0	1	0	4	0	3	0	5	1	4	3	5	1	2	3			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chrX:149639249G>T	ENST00000370401.2	+	4	1714	c.1404G>T	c.(1402-1404)ttG>ttT	p.L468F	MAMLD1_ENST00000262858.5_Missense_Mutation_p.L468F|MAMLD1_ENST00000432680.2_Missense_Mutation_p.L443F|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000426613.2_Missense_Mutation_p.L443F			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	468					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)					GCCCAGGCTTGCCACAGCAGT	0.597																																																	0													71	70	71					X																	149639249		2203	4300	6503	SO:0001583	missense	0			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.1404G>T	X.37:g.149639249G>T	ENSP00000359428:p.Leu468Phe		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.L443F	ENST00000370401.2	37	c.1329	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566687	0.45694	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.58	4.67	0.58626	.	0.000000	0.56097	D	0.000024	T	0.81559	0.4848	L	0.35593	1.075	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;0.997;0.995;0.997	T	0.80254	-0.1459	9	.	.	.	-17.1374	15.0323	0.71717	0.0:0.1387:0.8613:0.0	.	430;443;443;468	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	F	430;468;443;468;443	ENSP00000359428:L468F;ENSP00000414517:L443F;ENSP00000262858:L468F;ENSP00000397438:L443F	.	L	+	3	2	MAMLD1	149389907	1.000000	0.71417	0.934000	0.37439	0.255000	0.26057	1.577000	0.36515	2.351000	0.79841	0.600000	0.82982	TTG	MAMLD1	-	NULL	ENSG00000013619		0.597	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2		0	17	0	G	NM_005491		149639249	1			no_errors	ENST00000432680	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T	T	149639249	G	T	149639249	3	4	169	1	0	0	0	0	1	0	0	0	9246	1310	46	3	1414	3	MAMLD1	23	149639249	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	8645435	149639249	5631311	192	42670											
EMD	2010	genome.wustl.edu	37	chrX	153609472	153609472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgccaggtcccgctctgggGccagctgctgcttttcctgg	2	11	13	15	2	1	0	0	0	1	0	4	0	3	0	4	4	3	4	4	4	0	2			TCGA-VR-A8EY-01A-11D-A36J-09	TCGA-VR-A8EY-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a787e4c-1d09-4304-88a5-b8de5394c710	d601820b-9c2c-4e15-80f2-d6ce2c280ada	g.chrX:153609472G>T	ENST00000369842.4	+	6	968	c.680G>T	c.(679-681)gGc>gTc	p.G227V	EMD_ENST00000369835.3_Missense_Mutation_p.G192V|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	227					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)					CCGCTCTGGGGCCAGCTGCTG	0.592																																																	0													67	61	63					X																	153609472		2203	4300	6503	SO:0001583	missense	0			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.680G>T	X.37:g.153609472G>T	ENSP00000358857:p.Gly227Val		Q6FI02	Missense_Mutation	SNP	pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom	p.G227V	ENST00000369842.4	37	c.680	CCDS14745.1	X	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332342	0.41297	.	.	ENSG00000102119	ENST00000369842;ENST00000369835	T;D	0.84223	-1.34;-1.82	4.91	3.92	0.45320	.	0.219986	0.37348	N	0.002124	T	0.75162	0.3812	L	0.32530	0.975	0.48288	D	0.999629	P	0.43094	0.799	B	0.40825	0.341	T	0.71159	-0.4674	10	0.23302	T	0.38	-23.3071	8.1898	0.31361	0.0:0.0:0.6927:0.3073	.	227	P50402	EMD_HUMAN	V	227;192	ENSP00000358857:G227V;ENSP00000358850:G192V	ENSP00000358850:G192V	G	+	2	0	EMD	153262666	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	2.009000	0.40903	2.172000	0.68678	0.513000	0.50165	GGC	EMD	-	NULL	ENSG00000102119		0.592	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMD	HGNC	protein_coding	OTTHUMT00000080921.1		0	47	0	G			153609472	1			no_errors	ENST00000369842	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.999	T	T	153609472	G	T	153609472	3	4	169	1	0	0	0	0	1	0	0	0	5103	1203	42	3	702	3	EMD	23	153609472	Missense_Mutation	SNP	G	TCGA-VR-A8EY-01A-11D-A36J-09	3970223	153609472	1661088	193	42671											
ATAD3C	219293	genome.wustl.edu	37	chr1	1396169	1396169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgccaccccgagcagttCgactgggccatcaatgcctg	8	7	11	15	2	1	0	1	0	0	0	2	2	1	0	5	1	4	3	5	1	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:1396169C>T	ENST00000378785.2	+	10	1847	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	284							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)		CCGAGCAGTTCGACTGGGCCA	0.637																																																	0													91	78	82					1																	1396169		692	1591	2283	SO:0001819	synonymous_variant	0			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.852C>T	1.37:g.1396169C>T			Q8N1Z5	Silent	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F284	ENST00000378785.2	37	c.852	CCDS44039.1	1																																																																																			ATAD3C	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000215915		0.637	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3C	HGNC	protein_coding	OTTHUMT00000001279.3	-	0	71	0	C	NM_001039211		1396169	1	tier1	-	no_errors	ENST00000378785	ensembl	human	known	74_37	silent	34.52	55	29	SNP	0.960	T	T	1396169	C	T	1396169	2	4	170	1	0	0	0	0	0	0	0	1	1076	883	31	1		1	ATAD3C	1	1396169	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09		1396169	247854452	1	42672											
PIK3CD	5293	genome.wustl.edu	37	chr1	9784049	9784049	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccctggatcgagccattGaggagttcaccctctcctgt	7	10	11	13	1	2	1	1	1	1	0	4	4	2	3	4	3	1	1	4	3	0	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:9784049G>T	ENST00000377346.4	+	21	2812	c.2617G>T	c.(2617-2619)Gag>Tag	p.E873*	PIK3CD_ENST00000536656.1_Nonsense_Mutation_p.E897*|PIK3CD_ENST00000361110.2_Nonsense_Mutation_p.E897*	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	873	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TCGAGCCATTGAGGAGTTCAC	0.542																																																	0													149	137	141					1																	9784049		2203	4300	6503	SO:0001587	stop_gained	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2617G>T	1.37:g.9784049G>T	ENSP00000366563:p.Glu873*		A6NCG0|G1FFP1|O15445|Q5SR49	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E897*	ENST00000377346.4	37	c.2689	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	G	43	9.866120	0.99283	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-36.1738	18.2987	0.90155	0.0:0.0:1.0:0.0	.	.	.	.	X	897;873;897;897	.	ENSP00000353766:E897X	E	+	1	0	PIK3CD	9706636	1.000000	0.71417	0.977000	0.42913	0.947000	0.59692	9.864000	0.99589	2.327000	0.79052	0.561000	0.74099	GAG	PIK3CD	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000171608		0.542	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1		0	24	0	G	NM_005026		9784049	1			no_errors	ENST00000536656	ensembl	human	known	74_37	nonsense	7.32	38	3	SNP	1.000	T	T	9784049	G	T	9784049	4	4	170	1	0	0	0	0	0	1	0	0	11954	1291	45	3	2691	3	PIK3CD	1	9784049	Nonsense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	8387880	9784049	239466572	2	42673											
SPEN	23013	genome.wustl.edu	37	chr1	16261094	16261094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaaaacagtcggttccacCcagggtccatgcctgtgatc	10	9	10	12	1	0	2	0	2	0	0	4	2	2	2	4	2	2	1	4	2	2	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:16261094C>A	ENST00000375759.3	+	11	8563	c.8359C>A	c.(8359-8361)Cca>Aca	p.P2787T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2787	Interaction with RBPSUH. {ECO:0000250}.				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)		TCGGTTCCACCCAGGGTCCAT	0.587																																																	0													61	58	59					1																	16261094		2203	4300	6503	SO:0001583	missense	0				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.8359C>A	1.37:g.16261094C>A	ENSP00000364912:p.Pro2787Thr		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.P2787T	ENST00000375759.3	37	c.8359	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269394	0.23221	.	.	ENSG00000065526	ENST00000375759	T	0.08458	3.09	5.08	5.08	0.68730	.	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.48632	D	0.999688	B	0.31680	0.335	B	0.34346	0.18	T	0.51553	-0.8691	9	0.15499	T	0.54	-14.2405	16.6435	0.85138	0.0:1.0:0.0:0.0	.	2787	Q96T58	MINT_HUMAN	T	2787	ENSP00000364912:P2787T	ENSP00000364912:P2787T	P	+	1	0	SPEN	16133681	1.000000	0.71417	0.999000	0.59377	0.070000	0.16714	3.327000	0.52045	2.362000	0.80069	0.561000	0.74099	CCA	SPEN	-	NULL	ENSG00000065526		0.587	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1		0	58	0	C	NM_015001		16261094	1			no_errors	ENST00000375759	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	16261094	C	A	16261094	3	1	170	1	0	0	0	0	1	0	0	0	15085	623	22	3	8401	3	SPEN	1	16261094	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	6477045	16261094	232989527	3	42674											
PADI6	353238	genome.wustl.edu	37	chr1	17715326	17715326	+	RNA	SNP	T	T	C	0	1	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	tggtgttccgggtggctcccTgtgtcttcattccctgtacc	2	15	11	13	1	2	0	1	0	1	0	5	0	5	0	4	3	1	3	4	3	1	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:17715326T>C	ENST00000434762.2	+	0	963							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGTGGCTCCCTGTGTCTTCAT	0.537																																																	0													107	109	108					1																	17715326		1986	4167	6153			0			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17715326T>C			Q330K5|Q70SX3	RNA	SNP	-	NULL	ENST00000434762.2	37	NULL		1																																																																																			PADI6	-	-	ENSG00000256049		0.537	PADI6-001	KNOWN	basic	processed_transcript	PADI6	HGNC	processed_transcript	OTTHUMT00000006804.4	-	0	54	0	T	NM_207421		17715326	1	tier1	-	no_errors	ENST00000358481	ensembl	human	known	74_37	rna	8.51	43	4	SNP	0.997	C	C	17715326	T	C	17715326	1	2	170	0	1	0	0	0	0	0	0	0	11420	1580	55	4		4	PADI6	1	17715326	RNA	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	1454232	17715326	231535295	4	42675											
ZBTB40	9923	genome.wustl.edu	37	chr1	22848056	22848056	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atttgctgctcagaaccaccGatcttccaagttctcatcac	10	12	5	14	1	4	1	3	0	2	1	6	2	5	1	3	0	3	3	3	0	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:22848056G>C	ENST00000375647.4	+	15	3323	c.3116G>C	c.(3115-3117)cGa>cCa	p.R1039P	ZBTB40_ENST00000404138.1_Missense_Mutation_p.R1039P|ZBTB40_ENST00000374651.4_Missense_Mutation_p.R927P|ZBTB40-IT1_ENST00000438551.1_RNA	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1039					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)		CAGAACCACCGATCTTCCAAG	0.483																																																	0													186	150	162					1																	22848056		2203	4300	6503	SO:0001583	missense	0			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.3116G>C	1.37:g.22848056G>C	ENSP00000364798:p.Arg1039Pro		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R1039P	ENST00000375647.4	37	c.3116	CCDS224.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007248	0.75046	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.10573	2.86;2.86;2.86	5.69	5.69	0.88448	.	0.000000	0.49305	D	0.000150	T	0.22282	0.0537	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01424	-1.1358	10	0.45353	T	0.12	-10.8734	18.4221	0.90594	0.0:0.0:1.0:0.0	.	927;1039	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	P	1039;1039;927	ENSP00000384527:R1039P;ENSP00000364798:R1039P;ENSP00000363782:R927P	ENSP00000363782:R927P	R	+	2	0	ZBTB40	22720643	1.000000	0.71417	0.977000	0.42913	0.881000	0.50899	5.772000	0.68889	2.705000	0.92388	0.485000	0.47835	CGA	ZBTB40	-	NULL	ENSG00000184677		0.483	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1		0	73	0	G	NM_014870		22848056	1			no_errors	ENST00000375647	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	C	C	22848056	G	C	22848056	3	2	170	1	0	0	0	0	1	0	0	0	17590	1058	37	5	3170	5	ZBTB40	1	22848056	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	5132730	22848056	226402565	5	42676											
FCN3	8547	genome.wustl.edu	37	chr1	27697395	27697395	+	Frame_Shift_Del	DEL	A	A	-																															aattcagactcttggttcccAaaacctgctctgtaggagga																										TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:27697395delA	ENST00000270879.4	-	6	467	c.462delT	c.(460-462)tttfs	p.F154fs	FCN3_ENST00000354982.2_Frame_Shift_Del_p.F143fs	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	154	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTGGTTCCCAAAACCTGCTC	0.552																																																	0													55	61	59					1																	27697395		2203	4300	6503	SO:0001589	frameshift_variant	0			D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"Fibrinogen C domain containing"	3625	protein-coding gene	gene with protein product	"Hakata antigen"	604973	"ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.462delT	1.37:g.27697395delA	ENSP00000270879:p.Phe154fs		Q6IBJ5|Q8WW86	Frame_Shift_Del	DEL	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.F154fs	ENST00000270879.4	37	c.462	CCDS300.1	1																																																																																			FCN3	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000142748		0.552	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCN3	HGNC	protein_coding	OTTHUMT00000015667.1		0	35	0	A			27697395	-1	tier1		no_errors	ENST00000270879	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	0.996	-	-	27697395	A	-	27697395	7	5	170	1	0	1	0	1	0	0	0	0	5815	127	5	0	449	0	FCN3	1	27697395	Frame_Shift_Del	DEL	A	TCGA-VR-A8EZ-01A-11D-A36J-09	4849339	27697395	221553226	6	42677											
GNL2	29889	genome.wustl.edu	37	chr1	38040040	38040040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatcttacccacagtctgCaagtcgggctctccaccctg	8	9	7	17	1	3	0	0	0	3	0	5	0	3	0	4	1	2	2	4	1	2	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:38040040C>T	ENST00000373062.3	-	12	1418	c.1320G>A	c.(1318-1320)ttG>ttA	p.L440L		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	440					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)				CCACAGTCTGCAAGTCGGGCT	0.517																																																	0													45	43	44					1																	38040040		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1320G>A	1.37:g.38040040C>T			Q9BWN7	Silent	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.L440	ENST00000373062.3	37	c.1320	CCDS421.1	1																																																																																			GNL2	-	superfamily_P-loop_NTPase	ENSG00000134697		0.517	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	-	0	98	0	C	NM_013285		38040040	-1	tier1	-	no_errors	ENST00000373062	ensembl	human	known	74_37	silent	7.69	60	5	SNP	0.985	T	T	38040040	C	T	38040040	2	4	170	1	0	0	0	0	0	0	0	1	6562	709	25	3		3	GNL2	1	38040040	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	10342645	38040040	211210581	7	42678											
NSUN4	387338	genome.wustl.edu	37	chr1	46812708	46812708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctatgtgcagctcctGggggaaagacactagcgttg	9	10	13	9	1	0	2	0	1	0	1	1	3	1	3	2	2	3	3	2	2	3	4	rs372410507		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:46812708G>T	ENST00000474844.1	+	3	1203	c.553G>T	c.(553-555)Ggg>Tgg	p.G185W	NSUN4_ENST00000537428.1_Missense_Mutation_p.G136W|NSUN4_ENST00000536062.1_Missense_Mutation_p.G136W|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	185	S-adenosyl-L-methionine binding.				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)					TGCAGCTCCTGGGGGAAAGAC	0.587																																																	0													121	108	112					1																	46812708		2203	4300	6503	SO:0001583	missense	0			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.553G>T	1.37:g.46812708G>T	ENSP00000419740:p.Gly185Trp		A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.G185W	ENST00000474844.1	37	c.553	CCDS534.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.291187	0.95546	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.80824	-1.42;-1.42;-1.42	6.17	6.17	0.99709	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	D	0.94742	0.8303	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95945	0.8950	10	0.87932	D	0	-17.6415	20.4745	0.99168	0.0:0.0:1.0:0.0	.	185	Q96CB9	NSUN4_HUMAN	W	185;136;136	ENSP00000419740:G185W;ENSP00000438912:G136W;ENSP00000437758:G136W	ENSP00000419740:G185W	G	+	1	0	NSUN4	46585295	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.584000	0.98220	2.941000	0.99782	0.655000	0.94253	GGG	NSUN4	-	pfam_Fmu/NOL1/Nop2p,prints_RCMT	ENSG00000117481		0.587	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1		0	38	0	G	NM_199044		46812708	1			no_errors	ENST00000474844	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	46812708	G	T	46812708	3	4	170	1	0	0	0	0	1	0	0	0	10719	1348	47	3	563	3	NSUN4	1	46812708	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	8772668	46812708	202437913	8	42679											
USP24	23358	genome.wustl.edu	37	chr1	55620084	55620084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgagcttcccggcctattCgtccaatcaggctcaaaagc	10	8	9	14	3	2	0	2	0	0	0	5	1	4	0	3	2	3	2	3	2	4	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:55620084C>T	ENST00000294383.6	-	14	1609	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	USP24_ENST00000407756.1_Intron	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	537					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						CCGGCCTATTCGTCCAATCAG	0.448																																																	0													95	85	88					1																	55620084		692	1591	2283	SO:0001583	missense	0			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.1610G>A	1.37:g.55620084C>T	ENSP00000294383:p.Arg537Gln		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.R537Q	ENST00000294383.6	37	c.1610	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175730	0.78564	.	.	ENSG00000162402	ENST00000294383	T	0.66280	-0.2	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000001	T	0.61615	0.2361	N	0.20685	0.6	0.80722	D	1	.	.	.	.	.	.	T	0.56661	-0.7942	8	0.32370	T	0.25	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	Q	537	ENSP00000294383:R537Q	ENSP00000294383:R537Q	R	-	2	0	USP24	55392672	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	CGA	USP24	-	superfamily_ARM-type_fold	ENSG00000162402		0.448	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0	47	0	C			55620084	-1	tier1	-	no_errors	ENST00000294383	ensembl	human	novel	74_37	missense	19.35	50	12	SNP	1.000	T	T	55620084	C	T	55620084	3	4	170	1	0	0	0	0	1	0	0	0	17104	884	31	1	6472	1	USP24	1	55620084	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	8807376	55620084	193630537	9	42680											
DOCK7	85440	genome.wustl.edu	37	chr1	62941485	62941485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaagttccccatgggcacGgccatctaaagtaaagggtg	12	8	12	9	1	1	1	0	1	1	0	2	1	2	1	3	3	0	3	3	3	5	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:62941485G>A	ENST00000340370.5	-	45	5778	c.5761C>T	c.(5761-5763)Cgt>Tgt	p.R1921C	DOCK7_ENST00000251157.5_Missense_Mutation_p.R1941C|DOCK7_ENST00000489185.1_5'UTR	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1952	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.R1921C(1)		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						CCATGGGCACGGCCATCTAAA	0.383																																																	1	Substitution - Missense(1)	lung(1)											166	160	162					1																	62941485		2203	4300	6503	SO:0001583	missense	0				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.5761C>T	1.37:g.62941485G>A	ENSP00000340742:p.Arg1921Cys		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.R1941C	ENST00000340370.5	37	c.5821	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.134579|4.134579	0.77662|0.77662	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.19394	.|2.15;2.15	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52419|0.52419	0.1733|0.1733	M|M	0.88842|0.88842	2.985|2.985	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	.|0.999;0.998;0.999;0.999;1.0;0.997	T|T	0.59182|0.59182	-0.7502|-0.7502	5|10	.|0.87932	.|D	.|0	.|.	13.3684|13.3684	0.60698|0.60698	0.0:0.0:0.7248:0.2752|0.0:0.0:0.7248:0.2752	.|.	.|1952;1941;1921;1910;1912;1943	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	L|C	1114|1952;1941;1921;682	.|ENSP00000251157:R1941C;ENSP00000340742:R1921C	.|ENSP00000251157:R1941C	P|R	-|-	2|1	0|0	DOCK7|DOCK7	62714073|62714073	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.991000|0.991000	0.79684|0.79684	5.437000|5.437000	0.66544|0.66544	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	CCG|CGT	DOCK7	-	pfam_DOCK_C	ENSG00000116641		0.383	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1		0	43	0	G	NM_033407		62941485	-1			no_errors	ENST00000251157	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.970	A	A	62941485	G	A	62941485	3	1	170	1	0	0	0	0	1	0	0	0	4706	1116	39	1	588	1	DOCK7	1	62941485	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	7321401	62941485	186309136	10	42681											
LRRC7	57554	genome.wustl.edu	37	chr1	70397207	70397207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggtcaatgcacaaactggCccagttggaaagacttgacc	13	8	10	10	0	1	2	1	1	0	1	1	3	1	3	2	3	2	2	2	3	4	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:70397207C>G	ENST00000035383.5	+	6	581	c.551C>G	c.(550-552)gCc>gGc	p.A184G	LRRC7_ENST00000310961.5_Missense_Mutation_p.A189G|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	184						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CACAAACTGGCCCAGTTGGAA	0.403																																																	0													93	87	89					1																	70397207		2203	4300	6503	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.551C>G	1.37:g.70397207C>G	ENSP00000035383:p.Ala184Gly		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.A184G	ENST00000035383.5	37	c.551	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563563	0.45694	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.09817	2.94;2.94	5.92	4.03	0.46877	.	0.125660	0.56097	N	0.000028	T	0.03520	0.0101	N	0.17345	0.48	0.80722	D	1	B	0.29955	0.263	B	0.36766	0.232	T	0.43829	-0.9367	10	0.30854	T	0.27	.	13.2029	0.59778	0.0:0.6943:0.3057:0.0	.	184	Q96NW7	LRRC7_HUMAN	G	189;184;7	ENSP00000309245:A189G;ENSP00000035383:A184G	ENSP00000035383:A184G	A	+	2	0	LRRC7	70169795	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.911000	0.28584	0.812000	0.34326	-0.182000	0.12963	GCC	LRRC7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000033122		0.403	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0	76	0	C	NM_020794		70397207	1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	20.93	68	18	SNP	1.000	G	G	70397207	C	G	70397207	3	3	170	1	0	0	0	0	1	0	0	0	9055	739	26	5	573	5	LRRC7	1	70397207	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	7455722	70397207	178853414	11	42682											
PKN2	5586	genome.wustl.edu	37	chr1	89289999	89289999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatcctgaacagagatttGaaattggataacttattgct	13	16	7	5	0	0	3	0	2	0	1	1	5	1	4	1	1	3	1	1	1	5	7			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:89289999G>C	ENST00000370521.3	+	18	2708	c.2349G>C	c.(2347-2349)ttG>ttC	p.L783F	PKN2_ENST00000544045.1_Missense_Mutation_p.L457F|PKN2_ENST00000370513.5_Missense_Mutation_p.L735F|PKN2_ENST00000370505.3_Missense_Mutation_p.L626F	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	783	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ACAGAGATTTGAAATTGGATA	0.294																																																	0													123	114	117					1																	89289999		1806	4068	5874	SO:0001583	missense	0			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2349G>C	1.37:g.89289999G>C	ENSP00000359552:p.Leu783Phe		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.L783F	ENST00000370521.3	37	c.2349	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614409	0.66672	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045;ENST00000544215	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.82	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	0.36893	U	0.002356	T	0.67692	0.2920	H	0.96015	3.755	0.54753	D	0.99998	D;D;D	0.71674	0.998;0.995;0.996	D;D;D	0.76575	0.988;0.953;0.939	T	0.78700	-0.2102	10	0.87932	D	0	.	11.8573	0.52446	0.1404:0.0:0.8596:0.0	.	767;735;783	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	F	783;626;735;457;37	ENSP00000359552:L783F;ENSP00000359536:L626F;ENSP00000359544:L735F;ENSP00000439643:L457F	ENSP00000359536:L626F	L	+	3	2	PKN2	89062587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.200000	0.51051	1.461000	0.47929	0.591000	0.81541	TTG	PKN2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000065243		0.294	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	-	0	99	0	G	NM_006256		89289999	1	tier1	-	no_errors	ENST00000370521	ensembl	human	known	74_37	missense	37.14	44	26	SNP	1.000	C	C	89289999	G	C	89289999	3	2	170	1	0	0	0	0	1	0	0	0	12019	1281	45	5	2419	5	PKN2	1	89289999	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	18892792	89289999	159960622	12	42683											
GBP7	388646	genome.wustl.edu	37	chr1	89617967	89617967	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacctgaaatcagcttcaaGgcattctccaggtactcatc	12	11	6	12	0	4	1	3	1	1	0	6	1	4	1	2	2	3	3	2	2	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:89617967G>T	ENST00000294671.2	-	5	747	c.609C>A	c.(607-609)gcC>gcA	p.A203A		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	203	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCAGCTTCAAGGCATTCTCCA	0.463																																																	0													128	126	127					1																	89617967		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.609C>A	1.37:g.89617967G>T				Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.A203	ENST00000294671.2	37	c.609	CCDS720.1	1																																																																																			GBP7	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase	ENSG00000213512		0.463	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	-	0	42	0	G	NM_207398		89617967	-1	tier1	-	no_errors	ENST00000294671	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	T	T	89617967	G	T	89617967	2	4	170	1	0	0	0	0	0	0	0	1	6304	987	35	3		3	GBP7	1	89617967	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	327968	89617967	159632654	13	42684											
SNX7	51375	genome.wustl.edu	37	chr1	99150484	99150484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcagccctatgatgcCaacatcccctttatcaatga	10	12	4	15	0	2	2	2	2	0	0	4	2	4	2	5	0	3	0	5	0	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:99150484C>A	ENST00000306121.3	+	2	233	c.224C>A	c.(223-225)cCa>cAa	p.P75Q	SNX7_ENST00000529992.1_Missense_Mutation_p.P75Q|SNX7_ENST00000370189.5_Missense_Mutation_p.P11Q	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	11	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CCTATGATGCCAACATCCCCT	0.333																																																	0													125	113	117					1																	99150484		2203	4300	6503	SO:0001583	missense	0			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.224C>A	1.37:g.99150484C>A	ENSP00000304429:p.Pro75Gln		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.P75Q	ENST00000306121.3	37	c.224	CCDS755.2	1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123926	0.37533	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121;ENST00000454199	T;T;T;T	0.58358	1.34;2.06;1.39;0.34	5.39	5.39	0.77823	.	0.079472	0.53938	D	0.000047	T	0.40423	0.1116	N	0.25647	0.755	0.44711	D	0.997702	P;D;P	0.54964	0.7;0.969;0.899	B;P;B	0.53518	0.186;0.728;0.419	T	0.35101	-0.9802	10	0.45353	T	0.12	-16.8727	12.5036	0.55970	0.0:0.9239:0.0:0.0761	.	75;75;11	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	Q	11;75;75;11	ENSP00000359208:P11Q;ENSP00000434731:P75Q;ENSP00000304429:P75Q;ENSP00000388266:P11Q	ENSP00000304429:P75Q	P	+	2	0	SNX7	98923072	1.000000	0.71417	0.998000	0.56505	0.614000	0.37383	3.996000	0.57009	2.533000	0.85409	0.650000	0.86243	CCA	SNX7	-	NULL	ENSG00000162627		0.333	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX7	HGNC	protein_coding	OTTHUMT00000029609.2	-	0	61	0	C			99150484	1	tier1	-	no_errors	ENST00000306121	ensembl	human	known	74_37	missense	34.62	34	18	SNP	1.000	A	A	99150484	C	A	99150484	3	1	170	1	0	0	0	0	1	0	0	0	14952	594	21	3	230	3	SNX7	1	99150484	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	9532517	99150484	150100137	14	42685											
AMY2B	280	genome.wustl.edu	37	chr1	104114789	104114789	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttcagaccttggtgggaaAgataccaaccagttagctat	12	11	9	9	0	1	2	1	0	0	2	1	3	1	3	3	2	3	2	3	2	5	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:104114789A>G	ENST00000361355.4	+	4	842	c.226A>G	c.(226-228)Aga>Gga	p.R76G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	76					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGGTGGGAAAGATACCAACC	0.353																																																	0													142	143	143					1																	104114789		2202	4282	6484	SO:0001583	missense	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.226A>G	1.37:g.104114789A>G	ENSP00000354610:p.Arg76Gly		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R76G	ENST00000361355.4	37	c.226	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.540470	0.65085	.	.	ENSG00000240038	ENST00000361355;ENST00000435302;ENST00000453959	D	0.97505	-4.41	4.65	4.65	0.58169	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99797	1.1034	10	0.87932	D	0	.	14.0847	0.64949	1.0:0.0:0.0:0.0	.	76	P19961	AMY2B_HUMAN	G	76	ENSP00000354610:R76G	ENSP00000354610:R76G	R	+	1	2	AMY2B	103916312	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.961000	0.70356	1.711000	0.51337	0.377000	0.23210	AGA	AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase	ENSG00000240038		0.353	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	-	0	428	0	A	NM_020978		104114789	1	tier1	-	no_errors	ENST00000361355	ensembl	human	known	74_37	missense	51.82	132	142	SNP	1.000	G	G	104114789	A	G	104114789	3	3	170	1	0	0	0	0	1	0	0	0	595	64	3	4	232	4	AMY2B	1	104114789	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	4964305	104114789	145135832	15	42686											
GNAI3	2773	genome.wustl.edu	37	chr1	110134705	110134705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagctgcctatattcaatgCcagtttgaagatctgaacag	12	11	9	9	0	2	3	1	2	1	1	2	3	2	3	2	0	4	3	2	0	5	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:110134705C>T	ENST00000369851.4	+	8	1025	c.915C>T	c.(913-915)tgC>tgT	p.C305C	RNU6V_ENST00000384105.1_RNA	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	305					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		ATATTCAATGCCAGTTTGAAG	0.418																																																	0													99	92	94					1																	110134705		2203	4300	6503	SO:0001819	synonymous_variant	0			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.915C>T	1.37:g.110134705C>T			P17539|Q5TZX1	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha	p.C305	ENST00000369851.4	37	c.915	CCDS802.1	1																																																																																			GNAI3	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha	ENSG00000065135		0.418	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI3	HGNC	protein_coding	OTTHUMT00000032222.1		0	73	0	C	NM_006496		110134705	1			no_errors	ENST00000369851	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	T	T	110134705	C	T	110134705	2	4	170	1	0	0	0	0	0	0	0	1	6532	747	26	3		3	GNAI3	1	110134705	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	6019916	110134705	139115916	16	42687											
HIPK1	204851	genome.wustl.edu	37	chr1	114483016	114483016	+	Missense_Mutation	SNP	A	A	T	1	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	caatataggtatggcatcacAgctgcaagtgttttcgcccc	10	11	9	11	1	1	0	1	0	0	0	2	0	1	0	2	2	2	5	2	2	5	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:114483016A>T	ENST00000369558.1	+	2	243	c.11A>T	c.(10-12)cAg>cTg	p.Q4L	HIPK1_ENST00000426820.2_Missense_Mutation_p.Q4L|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q4L|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q4L|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q4L|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q4L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	4					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)		ATGGCATCACAGCTGCAAGTG	0.438																																																	0													114	123	120					1																	114483016		2203	4300	6503	SO:0001583	missense	0			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.11A>T	1.37:g.114483016A>T	ENSP00000358571:p.Gln4Leu		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q4L	ENST00000369558.1	37	c.11	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.902228	0.52227	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	T;T;T;T;T;T;T;T;T	0.57907	0.37;0.43;0.47;0.52;0.52;0.47;0.49;0.62;0.62	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000009	T	0.60894	0.2304	M	0.64170	1.965	0.80722	D	1	D;D	0.57899	0.967;0.981	P;D	0.67900	0.901;0.954	T	0.67146	-0.5744	10	0.87932	D	0	.	14.3323	0.66566	1.0:0.0:0.0:0.0	.	4;4	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	L	75;4;4;4;4;4;4;4;4	ENSP00000407442:Q75L;ENSP00000358572:Q4L;ENSP00000409673:Q4L;ENSP00000358567:Q4L;ENSP00000358568:Q4L;ENSP00000358571:Q4L;ENSP00000358574:Q4L;ENSP00000422322:Q4L;ENSP00000426695:Q4L	ENSP00000358567:Q4L	Q	+	2	0	HIPK1	114284539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	1.772000	0.52199	0.528000	0.53228	CAG	HIPK1	-	NULL	ENSG00000163349		0.438	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	-	0	51	0	A	NM_198268		114483016	1	tier1	-	no_errors	ENST00000369558	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	T	T	114483016	A	T	114483016	3	4	170	1	0	0	0	0	1	0	0	0	7143	188	7	5	13	5	HIPK1	1	114483016	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	4348311	114483016	134767605	17	42688											
HMGCS2	3158	genome.wustl.edu	37	chr1	120298175	120298175	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagaggcctttagaagtgcTttatccaggtccttgttggt	7	15	12	7	0	0	2	0	1	0	2	2	3	2	2	3	3	1	2	3	3	3	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:120298175T>G	ENST00000369406.3	-	6	1111	c.1062A>C	c.(1060-1062)aaA>aaC	p.K354N	HMGCS2_ENST00000544913.2_Missense_Mutation_p.K312N|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	354					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)		TTAGAAGTGCTTTATCCAGGT	0.537																																																	0													510	492	498					1																	120298175		2203	4300	6503	SO:0001583	missense	0			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.1062A>C	1.37:g.120298175T>G	ENSP00000358414:p.Lys354Asn		B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.K354N	ENST00000369406.3	37	c.1062	CCDS905.1	1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723478	0.48728	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	T;T	0.81330	-1.48;-1.48	5.4	-3.15	0.05233	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.605383	0.16478	N	0.212676	D	0.88388	0.6423	M	0.93594	3.435	0.49687	D	0.999812	D;D	0.76494	0.999;0.998	D;D	0.77004	0.989;0.975	D	0.90660	0.4589	10	0.87932	D	0	-4.9148	13.8646	0.63581	0.0:0.6793:0.0:0.3207	.	312;354	B7Z8R3;P54868	.;HMCS2_HUMAN	N	354;312	ENSP00000358414:K354N;ENSP00000439495:K312N	ENSP00000358414:K354N	K	-	3	2	HMGCS2	120099698	0.998000	0.40836	0.035000	0.18076	0.183000	0.23260	0.509000	0.22707	-0.498000	0.06632	0.533000	0.62120	AAA	HMGCS2	-	pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	ENSG00000134240		0.537	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS2	HGNC	protein_coding	OTTHUMT00000033469.2	-	0	75	0	T	NM_005518		120298175	-1	tier1	-	no_errors	ENST00000369406	ensembl	human	known	74_37	missense	19.44	58	14	SNP	0.994	G	G	120298175	T	G	120298175	3	3	170	1	0	0	0	0	1	0	0	0	7260	1606	56	4	480	4	HMGCS2	1	120298175	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	5815159	120298175	128952446	18	42689											
FCRL5	83416	genome.wustl.edu	37	chr1	157512730	157512730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagtagttccctgaattctCtgtagtcagtgagaagctga	10	13	11	7	0	2	3	1	3	1	1	4	4	3	3	1	0	1	5	1	0	5	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:157512730C>T	ENST00000361835.3	-	6	1199	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	FCRL5_ENST00000356953.4_Missense_Mutation_p.E348K|FCRL5_ENST00000368189.3_Missense_Mutation_p.E348K|FCRL5_ENST00000368191.3_Missense_Mutation_p.E263K|FCRL5_ENST00000368190.3_Missense_Mutation_p.E348K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	348	Ig-like C2-type 3.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCTGAATTCTCTGTAGTCAGT	0.537																																																	0													127	124	125					1																	157512730		2203	4300	6503	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1042G>A	1.37:g.157512730C>T	ENSP00000354691:p.Glu348Lys		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E348K	ENST00000361835.3	37	c.1042	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350738	0.24512	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	3.05	0.147	0.14838	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17365	0.0417	M	0.89353	3.025	0.09310	N	1	D;P;P;D;P;D	0.59767	0.964;0.792;0.458;0.979;0.767;0.986	P;B;B;P;P;P	0.59595	0.625;0.415;0.194;0.696;0.561;0.86	T	0.03453	-1.1035	9	0.44086	T	0.13	.	4.7798	0.13197	0.0:0.4528:0.0:0.5472	.	379;263;348;348;348;348	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	K	348;348;348;263;348	ENSP00000354691:E348K;ENSP00000349434:E348K;ENSP00000357173:E348K;ENSP00000357174:E263K;ENSP00000357172:E348K	ENSP00000349434:E348K	E	-	1	0	FCRL5	155779354	0.000000	0.05858	0.004000	0.12327	0.066000	0.16364	0.004000	0.13106	0.048000	0.15891	0.313000	0.20887	GAG	FCRL5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143297		0.537	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	-	0	42	0	C	NM_031281		157512730	-1	tier1	-	no_errors	ENST00000356953	ensembl	human	known	74_37	missense	19.51	33	8	SNP	0.000	T	T	157512730	C	T	157512730	3	4	170	1	0	0	0	0	1	0	0	0	5820	922	32	3	1939	3	FCRL5	1	157512730	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	37214555	157512730	91737891	19	42690											
OR10R2	343406	genome.wustl.edu	37	chr1	158449905	158449905	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagcctccacacaccaatgTacttcttccttggcattctc	10	12	4	15	0	2	0	0	0	2	0	5	0	4	0	4	1	2	2	4	1	3	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:158449905T>C	ENST00000368152.1	+	1	238	c.238T>C	c.(238-240)Tac>Cac	p.Y80H	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CACACCAATGTACTTCTTCCT	0.418																																																	0													267	228	242					1																	158449905		2203	4300	6503	SO:0001583	missense	0			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.238T>C	1.37:g.158449905T>C	ENSP00000357134:p.Tyr80His		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y80H	ENST00000368152.1	37	c.238	CCDS30898.1	1	.	.	.	.	.	.	.	.	.	.	t	19.02	3.745415	0.69418	.	.	ENSG00000198965	ENST00000368152	T	0.15487	2.42	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.45637	0.1352	H	0.96333	3.805	0.36809	D	0.885771	D	0.89917	1.0	D	0.91635	0.999	T	0.65080	-0.6255	9	0.87932	D	0	.	12.5259	0.56085	0.0:0.0:0.0:1.0	.	80	Q8NGX6	O10R2_HUMAN	H	80	ENSP00000357134:Y80H	ENSP00000357134:Y80H	Y	+	1	0	OR10R2	156716529	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.470000	0.66756	1.762000	0.52044	0.533000	0.62120	TAC	OR10R2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198965		0.418	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	HGNC	protein_coding	OTTHUMT00000051847.2	-	0	41	0	T	NM_001004472		158449905	1	tier1	-	no_errors	ENST00000368152	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	C	C	158449905	T	C	158449905	3	2	170	1	0	0	0	0	1	0	0	0	10956	1638	57	4	240	4	OR10R2	1	158449905	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	937175	158449905	90800716	20	42691											
SPTA1	6708	genome.wustl.edu	37	chr1	158623119	158623119	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggctcttctcgtcgccGctgtgggagcatcgggaact	4	11	13	13	4	2	0	0	0	2	0	6	2	3	2	2	3	2	3	2	3	1	1	rs373548086		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:158623119G>T	ENST00000368147.4	-	22	3313	c.3133C>A	c.(3133-3135)Cgg>Agg	p.R1045R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1045					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)					TCTCGTCGCCGCTGTGGGAGC	0.542																																																	0													107	109	109					1																	158623119		2002	4189	6191	SO:0001819	synonymous_variant	0			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.3133C>A	1.37:g.158623119G>T			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R1045	ENST00000368147.4	37	c.3133	CCDS41423.1	1																																																																																			SPTA1	-	superfamily_SH3_domain,smart_Spectrin/alpha-actinin	ENSG00000163554		0.542	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0	43	0	G	NM_003126		158623119	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.004	T	T	158623119	G	T	158623119	2	4	170	1	0	0	0	0	0	0	0	1	15163	1086	38	2		2	SPTA1	1	158623119	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	173214	158623119	90627502	21	42692											
ATP1A2	477	genome.wustl.edu	37	chr1	160093781	160093781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcattgtcactggctgcTtctcctactaccaggaggcc	6	12	10	13	0	3	0	2	0	1	0	4	1	3	1	3	4	3	2	3	4	2	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:160093781T>C	ENST00000361216.3	+	5	519	c.430T>C	c.(430-432)Ttc>Ctc	p.F144L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.F144L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	144					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACTGGCTGCTTCTCCTACTA	0.542																																																	0													99	91	93					1																	160093781		2203	4300	6503	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.430T>C	1.37:g.160093781T>C	ENSP00000354490:p.Phe144Leu		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.F144L	ENST00000361216.3	37	c.430	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.013981	0.93404	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	D;D	0.89123	-2.47;-2.47	4.56	4.56	0.56223	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.88171	0.6365	L	0.49571	1.57	0.80722	D	1	P	0.51791	0.948	P	0.55391	0.775	D	0.89931	0.4066	10	0.87932	D	0	.	13.025	0.58810	0.0:0.0:0.0:1.0	.	144	P50993	AT1A2_HUMAN	L	144	ENSP00000354490:F144L;ENSP00000376066:F144L	ENSP00000354490:F144L	F	+	1	0	ATP1A2	158360405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	1.926000	0.55796	0.459000	0.35465	TTC	ATP1A2	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000018625		0.542	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2		0	89	0	T	NM_000702		160093781	1			no_errors	ENST00000361216	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	C	C	160093781	T	C	160093781	3	2	170	1	0	0	0	0	1	0	0	0	1130	1609	56	4	448	4	ATP1A2	1	160093781	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	1470662	160093781	89156840	22	42693											
BAT2L2	23215	genome.wustl.edu	37	chr1	171535752	171535752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagatttgagtccagtaGaaaacaaagaacacaaacct	18	8	6	9	0	0	4	0	1	0	3	2	4	2	4	3	0	3	1	3	0	6	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:171535752G>C	ENST00000338920.4	+	22	6559	c.6322G>C	c.(6322-6324)Gaa>Caa	p.E2108Q	PRRC2C_ENST00000367742.3_Missense_Mutation_p.E2110Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E2110Q|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E2108Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2108					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GAGTCCAGTAGAAAACAAAGA	0.348																																																	0													38	38	38					1																	171535752		2202	4298	6500	SO:0001583	missense	0			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.6322G>C	1.37:g.171535752G>C	ENSP00000343629:p.Glu2108Gln		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.E2110Q	ENST00000338920.4	37	c.6328	CCDS1296.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.989231|2.989231	0.53934|0.53934	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	T;T;T;T|.	0.01963|.	4.53;4.53;4.55;4.55|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.47852|.	D|.	0.000211|.	T|.	0.42630|.	0.1211|.	L|L	0.28694|0.28694	0.88|0.88	0.42367|0.42367	D|D	0.992432|0.992432	D|.	0.76494|.	0.999|.	D|.	0.68943|.	0.961|.	T|.	0.35375|.	-0.9791|.	10|.	0.02654|.	T|.	1|.	.|.	14.5833|14.5833	0.68308|0.68308	0.0:0.1458:0.8542:0.0|0.0:0.1458:0.8542:0.0	.|.	2108|.	Q9Y520-4|.	.|.	Q|Y	2110;2062;2108;2110;2108;1865|655	ENSP00000375928:E2110Q;ENSP00000410219:E2108Q;ENSP00000356716:E2110Q;ENSP00000343629:E2108Q|.	ENSP00000343629:E2108Q|.	E|X	+|+	1|3	0|2	PRRC2C|PRRC2C	169802376|169802376	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.284000|7.284000	0.78650|0.78650	2.468000|2.468000	0.83385|0.83385	0.655000|0.655000	0.94253|0.94253	GAA|TAG	PRRC2C	-	NULL	ENSG00000117523		0.348	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	-	0	49	0	G	NM_015172		171535752	1	tier1	-	no_errors	ENST00000392078	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	C	C	171535752	G	C	171535752	3	2	170	1	0	0	0	0	1	0	0	0	1322	943	33	5	6404	5	BAT2L2	1	171535752	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	11441971	171535752	77714869	23	42694											
FAM20B	9917	genome.wustl.edu	37	chr1	179013235	179013235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaagagacaccagagctgGgggcagtcatgcatgccatg	11	6	14	10	0	1	3	1	1	0	2	1	4	1	3	2	2	3	3	2	2	1	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:179013235G>A	ENST00000263733.4	+	2	589	c.253G>A	c.(253-255)Ggg>Agg	p.G85R		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	85						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						ACCAGAGCTGGGGGCAGTCAT	0.542																																																	0													64	65	65					1																	179013235		2203	4300	6503	SO:0001583	missense	0			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"glycosaminoglycan xylosylkinase"	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.253G>A	1.37:g.179013235G>A	ENSP00000263733:p.Gly85Arg		Q5W0C3|Q5W0C4	Missense_Mutation	SNP	pfam_DUF1193	p.G85R	ENST00000263733.4	37	c.253	CCDS1328.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299482	0.81136	.	.	ENSG00000116199	ENST00000440702;ENST00000263733	D	0.87650	-2.28	6.03	6.03	0.97812	.	0.046329	0.85682	D	0.000000	D	0.89529	0.6741	L	0.53561	1.675	0.80722	D	1	D	0.58268	0.982	P	0.50314	0.637	D	0.89559	0.3805	10	0.66056	D	0.02	-43.7202	20.5752	0.99366	0.0:0.0:1.0:0.0	.	85	O75063	XYLK_HUMAN	R	85	ENSP00000263733:G85R	ENSP00000263733:G85R	G	+	1	0	FAM20B	177279858	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.868000	0.98415	0.557000	0.71058	GGG	FAM20B	-	NULL	ENSG00000116199		0.542	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20B	HGNC	protein_coding	OTTHUMT00000084922.1	-	0	44	0	G	NM_014864		179013235	1	tier1	-	no_errors	ENST00000263733	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	A	A	179013235	G	A	179013235	3	1	170	1	0	0	0	0	1	0	0	0	5557	1232	43	3	255	3	FAM20B	1	179013235	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	7477483	179013235	70237386	24	42695											
HMCN1	83872	genome.wustl.edu	37	chr1	186151375	186151375	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tggaagttatcagtgcatctGcccacctggctatcaactca	10	11	8	12	0	4	0	3	0	1	0	4	1	4	1	2	2	3	3	2	2	4	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:186151375G>T	ENST00000271588.4	+	105	16599	c.16370G>T	c.(16369-16371)tGc>tTc	p.C5457F	HMCN1_ENST00000367492.2_Missense_Mutation_p.C5340F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5457	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			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						CAGTGCATCTGCCCACCTGGC	0.408																																																	0													132	123	126					1																	186151375		2203	4300	6503	SO:0001583	missense	0			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.16370G>T	1.37:g.186151375G>T	ENSP00000271588:p.Cys5457Phe		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.C5457F	ENST00000271588.4	37	c.16370	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552246	0.86127	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.99999	-13.64;-13.64;-13.64	5.42	5.42	0.78866	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99999	1.0000	H	0.99900	4.915	0.80722	D	1	D	0.67145	0.996	D	0.83275	0.996	D	0.99998	1.6972	10	0.87932	D	0	.	19.2127	0.93763	0.0:0.0:1.0:0.0	.	5457	Q96RW7	HMCN1_HUMAN	F	5457;5340;132	ENSP00000271588:C5457F;ENSP00000356462:C5340F;ENSP00000406205:C132F	ENSP00000271588:C5457F	C	+	2	0	HMCN1	184417998	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.562000	0.98145	2.528000	0.85240	0.563000	0.77884	TGC	HMCN1	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000143341		0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	29	0	G	NM_031935		186151375	1			no_errors	ENST00000271588	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	186151375	G	T	186151375	3	4	170	1	0	0	0	0	1	0	0	0	7247	1319	46	3	16788	3	HMCN1	1	186151375	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	7138140	186151375	63099246	25	42696											
NR5A2	2494	genome.wustl.edu	37	chr1	200017837	200017837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaagagcaggctaaccgaaGcaagcacgaaaagctgagca	17	2	12	10	2	0	2	0	1	0	1	0	4	0	2	1	1	6	7	1	1	6	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:200017837G>T	ENST00000367362.3	+	5	1247	c.1001G>T	c.(1000-1002)aGc>aTc	p.S334I	NR5A2_ENST00000544748.1_Missense_Mutation_p.S262I|NR5A2_ENST00000236914.3_Missense_Mutation_p.S288I	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	334					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|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)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GCTAACCGAAGCAAGCACGAA	0.473																																					Melanoma(179;1138 2773 15678 26136)												0													139	134	136					1																	200017837		2203	4300	6503	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1001G>T	1.37:g.200017837G>T	ENSP00000356331:p.Ser334Ile		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S334I	ENST00000367362.3	37	c.1001	CCDS1401.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.83|16.83	3.230649|3.230649	0.58777|0.58777	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367357|ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480	.|D;D;D	.|0.96856	.|-4.15;-4.15;-4.15	5.33|5.33	4.41|4.41	0.53225|0.53225	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	.|0.244324	.|0.56097	.|D	.|0.000032	D|D	0.93979|0.93979	0.8072|0.8072	L|L	0.50333|0.50333	1.59|1.59	0.47994|0.47994	D|D	0.999561|0.999561	.|B;B	.|0.31949	.|0.117;0.348	.|B;B	.|0.34242	.|0.068;0.178	D|D	0.92000|0.92000	0.5610|0.5610	5|9	.|.	.|.	.|.	.|.	13.3942|13.3942	0.60840|0.60840	0.0771:0.0:0.9229:0.0|0.0771:0.0:0.9229:0.0	.|.	.|288;334	.|F1D8R9;O00482	.|.;NR5A2_HUMAN	S|I	255|334;288;262;254	.|ENSP00000356331:S334I;ENSP00000236914:S288I;ENSP00000439116:S262I	.|.	A|S	+|+	1|2	0|0	NR5A2|NR5A2	198284460|198284460	1.000000|1.000000	0.71417|0.71417	0.865000|0.865000	0.33974|0.33974	0.968000|0.968000	0.65278|0.65278	7.473000|7.473000	0.81007|0.81007	1.361000|1.361000	0.45981|0.45981	0.655000|0.655000	0.94253|0.94253	GCA|AGC	NR5A2	-	superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1	ENSG00000116833		0.473	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2		0	58	0	G			200017837	1			no_errors	ENST00000367362	ensembl	human	known	74_37	missense	8.16	42	4	SNP	1.000	T	T	200017837	G	T	200017837	3	4	170	1	0	0	0	0	1	0	0	0	10675	971	34	3	1019	3	NR5A2	1	200017837	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	13866462	200017837	49232784	26	42697											
IGFN1	91156	genome.wustl.edu	37	chr1	201163373	201163373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcacgccggactttgagcaGaagcccgtcacctcggctct	8	7	11	15	4	2	2	1	1	1	1	3	3	2	3	3	2	3	3	3	2	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:201163373G>A	ENST00000335211.4	+	3	229	c.99G>A	c.(97-99)caG>caA	p.Q33Q	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Silent_p.Q33Q	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	33	Ig-like 1.					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						ACTTTGAGCAGAAGCCCGTCA	0.632																																																	0													34	39	37					1																	201163373		692	1591	2283	SO:0001819	synonymous_variant	0			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.99G>A	1.37:g.201163373G>A			F8WAI1|Q9NT72	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q33	ENST00000335211.4	37	c.99	CCDS53455.1	1																																																																																			IGFN1	-	pfam_Ig_I-set,pfscan_Ig-like_dom	ENSG00000163395		0.632	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		-	0	56	0	G	NM_178275		201163373	1	tier1	-	no_errors	ENST00000335211	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	A	A	201163373	G	A	201163373	2	1	170	1	0	0	0	0	0	0	0	1	7617	933	33	3		3	IGFN1	1	201163373	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1145536	201163373	48087248	27	42698											
KCNK2	3776	genome.wustl.edu	37	chr1	215259722	215259722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgtcagtggcggcacctGacttgctggatcctaaatct	7	13	11	10	1	2	1	1	1	1	0	3	2	3	2	2	3	1	3	2	3	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:215259722G>A	ENST00000444842.2	+	2	208	c.58G>A	c.(58-60)Gac>Aac	p.D20N	KCNK2_ENST00000391894.2_Missense_Mutation_p.D5N|KCNK2_ENST00000391895.2_Missense_Mutation_p.D16N	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	20					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GGCGGCACCTGACTTGCTGGA	0.527																																																	0													51	53	52					1																	215259722		2203	4300	6503	SO:0001583	missense	0			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.58G>A	1.37:g.215259722G>A	ENSP00000394033:p.Asp20Asn		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.D20N	ENST00000444842.2	37	c.58	CCDS41467.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719995	0.89205	.	.	ENSG00000082482	ENST00000366948;ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.21734	2.01;1.99;1.99	5.77	5.77	0.91146	.	0.390340	0.29314	N	0.012506	T	0.46190	0.1380	M	0.63428	1.95	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69824	0.966;0.926;0.966	T	0.14227	-1.0480	10	0.45353	T	0.12	.	19.9941	0.97377	0.0:0.0:1.0:0.0	.	5;20;16	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	N	16;16;5;20	ENSP00000375765:D16N;ENSP00000375764:D5N;ENSP00000394033:D20N	ENSP00000355915:D16N	D	+	1	0	KCNK2	213326345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.638000	0.83328	2.729000	0.93468	0.557000	0.71058	GAC	KCNK2	-	prints_2pore_dom_K_chnl_TREK	ENSG00000082482		0.527	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	-	0	71	0	G	NM_014217		215259722	1	tier1	-	no_errors	ENST00000444842	ensembl	human	known	74_37	missense	17.14	87	18	SNP	1.000	A	A	215259722	G	A	215259722	3	1	170	1	0	0	0	0	1	0	0	0	8093	1290	45	3	107	3	KCNK2	1	215259722	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	14096349	215259722	33990899	28	42699											
TMEM63A	9725	genome.wustl.edu	37	chr1	226055696	226055696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gaaggacaggtagtggatggCgtcctccccacaccattcca	10	7	11	13	1	0	0	0	0	0	0	3	3	3	2	5	4	0	1	5	4	2	2	rs80287818	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr1:226055696C>T	ENST00000366835.3	-	7	676	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	TMEM63A_ENST00000474478.1_5'Flank|TMEM63A_ENST00000537914.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	136					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)					TAGTGGATGGCGTCCTCCCCA	0.547													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		18203	0		0	False		,,,				2504	0																0								C	THR/ALA	7,4399	12.9+/-30.5	0,7,2196	174	127	143		406	5.9	1	1	dbSNP_131	143	0,8600		0,0,4300	yes	missense	TMEM63A	NM_014698.2	58	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	136/808	226055696	7,12999	2203	4300	6503	SO:0001583	missense	0				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.406G>A	1.37:g.226055696C>T	ENSP00000355800:p.Ala136Thr		Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	pfam_DUF221	p.A136T	ENST00000366835.3	37	c.406	CCDS31042.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.643635	0.96704	0.001589	0.0	ENSG00000196187	ENST00000366835	T	0.61859	0.07	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81185	-0.1048	10	0.59425	D	0.04	-42.9941	19.0725	0.93145	0.0:1.0:0.0:0.0	.	136;136	B3KMR6;O94886	.;TM63A_HUMAN	T	136	ENSP00000355800:A136T	ENSP00000355800:A136T	A	-	1	0	TMEM63A	224122319	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	7.642000	0.83385	2.804000	0.96469	0.650000	0.86243	GCC	TMEM63A	-	NULL	ENSG00000196187		0.547	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2		0	53	0	C	NM_014698		226055696	-1			no_errors	ENST00000366835	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	226055696	C	T	226055696	3	4	170	1	0	0	0	0	1	0	0	0	16237	768	27	1	2089	1	TMEM63A	1	226055696	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	10795974	226055696	23194925	29	42700											
APOB	338	genome.wustl.edu	37	chr2	21257724	21257724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgttgatctttggtgtgtCttcaagtttcaaagtctgtg	6	18	11	6	0	5	1	2	1	3	0	5	1	5	1	0	1	0	3	0	1	2	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:21257724C>T	ENST00000233242.1	-	8	995	c.868G>A	c.(868-870)Gac>Aac	p.D290N	APOB_ENST00000399256.4_Missense_Mutation_p.D290N	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	290	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGGTGTGTCTTCAAGTTTC	0.443																																																	0													273	233	246					2																	21257724		2203	4300	6503	SO:0001583	missense	0			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.868G>A	2.37:g.21257724C>T	ENSP00000233242:p.Asp290Asn		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.D290N	ENST00000233242.1	37	c.868	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340070	0.60963	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.04809	3.55;3.55	5.08	2.31	0.28768	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.202224	0.34223	N	0.004154	T	0.06234	0.0161	L	0.45581	1.43	0.41859	D	0.990217	B	0.24258	0.1	B	0.28916	0.096	T	0.27365	-1.0076	10	0.46703	T	0.11	.	11.0774	0.48040	0.0:0.7929:0.0:0.2071	.	290	P04114	APOB_HUMAN	N	290	ENSP00000233242:D290N;ENSP00000382200:D290N	ENSP00000233242:D290N	D	-	1	0	APOB	21111229	1.000000	0.71417	0.707000	0.30419	0.296000	0.27459	3.577000	0.53885	0.390000	0.25115	0.655000	0.94253	GAC	APOB	-	pfam_Lipid_transpt_N,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	ENSG00000084674		0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	77	0	C			21257724	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	22.73	85	25	SNP	1.000	T	T	21257724	C	T	21257724	3	4	170	1	0	0	0	0	1	0	0	0	785	913	32	3	12911	3	APOB	2	21257724	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09		21257724	221941649	30	42701											
VIT	5212	genome.wustl.edu	37	chr2	36970377	36970377	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgtatgcatcctactccagtGtgtgtggcgctgccgtacac	6	12	11	12	2	0	0	0	0	0	0	2	0	2	0	3	1	4	4	3	1	3	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:36970377G>T	ENST00000389975.3	+	4	555	c.253G>T	c.(253-255)Gtg>Ttg	p.V85L	VIT_ENST00000404084.1_Missense_Mutation_p.V63L|VIT_ENST00000379241.3_Missense_Mutation_p.V85L|VIT_ENST00000457137.2_Missense_Mutation_p.V85L|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379242.3_Missense_Mutation_p.V85L|VIT_ENST00000401530.1_Missense_Mutation_p.V85L	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	85	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CTACTCCAGTGTGTGTGGCGC	0.483																																																	0													120	101	107					2																	36970377		2203	4300	6503	SO:0001583	missense	0			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.253G>T	2.37:g.36970377G>T	ENSP00000374625:p.Val85Leu		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.V85L	ENST00000389975.3	37	c.253	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331982	0.24167	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	4.78	3.83	0.44106	LCCL (5);	0.144426	0.47852	D	0.000204	T	0.77046	0.4073	N	0.11927	0.2	0.36724	D	0.881324	B;B;B;B;B;B	0.16802	0.015;0.008;0.006;0.017;0.007;0.019	B;B;B;B;B;B	0.21360	0.034;0.01;0.006;0.032;0.009;0.006	T	0.75619	-0.3255	10	0.52906	T	0.07	-13.2109	7.1719	0.25722	0.0875:0.0:0.742:0.1705	.	85;85;85;85;85;85	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	L	85;85;85;85;63;85;85	ENSP00000368544:V85L;ENSP00000374625:V85L;ENSP00000393561:V85L;ENSP00000384154:V63L;ENSP00000368543:V85L;ENSP00000385658:V85L	ENSP00000368543:V85L	V	+	1	0	VIT	36823881	0.998000	0.40836	1.000000	0.80357	0.322000	0.28314	1.806000	0.38892	2.363000	0.80096	0.655000	0.94253	GTG	VIT	-	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	ENSG00000205221		0.483	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		-	0	48	0	G			36970377	1	tier1	-	no_errors	ENST00000379242	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	36970377	G	T	36970377	3	4	170	1	0	0	0	0	1	0	0	0	17220	1377	48	3	263	3	VIT	2	36970377	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	15712653	36970377	206228996	31	42702											
PRKCE	5581	genome.wustl.edu	37	chr2	46372357	46372357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttctgtgggactcctgactAcatagctcctgaggtaagac	9	11	11	10	0	1	3	0	2	1	1	3	4	3	4	2	2	2	3	2	2	3	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:46372357A>G	ENST00000306156.3	+	12	2045	c.1718A>G	c.(1717-1719)tAc>tGc	p.Y573C		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	573	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|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)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	ACTCCTGACTACATAGCTCCT	0.562																																																	0													150	150	150					2																	46372357		2095	4091	6186	SO:0001583	missense	0				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1718A>G	2.37:g.46372357A>G	ENSP00000306124:p.Tyr573Cys		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.Y573C	ENST00000306156.3	37	c.1718	CCDS1824.1	2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301633	0.81136	.	.	ENSG00000171132	ENST00000306156	T	0.57907	0.37	4.98	4.98	0.66077	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	0.79805	0.4509	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85925	0.1448	10	0.87932	D	0	.	14.8489	0.70281	1.0:0.0:0.0:0.0	.	573	Q02156	KPCE_HUMAN	C	573	ENSP00000306124:Y573C	ENSP00000306124:Y573C	Y	+	2	0	PRKCE	46225861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.094000	0.63399	0.533000	0.62120	TAC	PRKCE	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom	ENSG00000171132		0.562	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2	-	0	80	0	A			46372357	1	tier1	-	no_errors	ENST00000306156	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	G	G	46372357	A	G	46372357	3	3	170	1	0	0	0	0	1	0	0	0	12553	391	14	4	1764	4	PRKCE	2	46372357	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	9401980	46372357	196827016	32	42703											
CCDC88A	55704	genome.wustl.edu	37	chr2	55529026	55529026	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctttattattaaccaactGcttggatctgaagcctgcag	11	13	7	10	0	1	1	0	1	1	0	1	2	1	2	3	1	5	2	3	1	5	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:55529026G>A	ENST00000436346.1	-	27	5495	c.4654C>T	c.(4654-4656)Cag>Tag	p.Q1552*	CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.Q1551*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.Q1551*|CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.Q1524*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1552					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						TTAACCAACTGCTTGGATCTG	0.388																																																	0													94	97	96					2																	55529026		2203	4300	6503	SO:0001587	stop_gained	0			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.4654C>T	2.37:g.55529026G>A	ENSP00000410608:p.Gln1552*		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.Q1552*	ENST00000436346.1	37	c.4654		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.428804|10.428804	0.99403|0.99403	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.45606	.|U	.|0.000342	T|.	0.52533|.	0.1740|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39860|.	-0.9593|.	4|.	.|0.11182	.|T	.|0.66	-9.8311|-9.8311	15.0804|15.0804	0.72110|0.72110	0.0:0.1415:0.8585:0.0|0.0:0.1415:0.8585:0.0	.|.	.|.	.|.	.|.	V|X	504|1551;1524;1552;569;1551;727	.|.	.|ENSP00000263630:Q1524X	A|Q	-|-	2|1	0|0	CCDC88A|CCDC88A	55382530|55382530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.439000|4.439000	0.59968|0.59968	2.700000|2.700000	0.92200|0.92200	0.460000|0.460000	0.39030|0.39030	GCA|CAG	CCDC88A	-	NULL	ENSG00000115355		0.388	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		-	0	45	0	G	NM_017571		55529026	-1	tier1	-	no_errors	ENST00000436346	ensembl	human	known	74_37	nonsense	15.56	38	7	SNP	1.000	A	A	55529026	G	A	55529026	4	1	170	1	0	0	0	0	0	1	0	0	2870	1328	46	3	985	3	CCDC88A	2	55529026	Nonsense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	9156669	55529026	187670347	33	42704											
MRPL19	9801	genome.wustl.edu	37	chr2	75882271	75882271	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaaggaatcagatttgatCtttgtttaactgaacagcaa	15	14	7	5	0	2	3	1	2	1	1	2	4	2	4	0	1	3	2	0	1	6	5	rs34812558		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:75882271C>G	ENST00000393909.2	+	6	764	c.739C>G	c.(739-741)Ctt>Gtt	p.L247V	MRPL19_ENST00000409374.1_Missense_Mutation_p.L247V|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	247					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						CAGATTTGATCTTTGTTTAAC	0.343																																																	0													58	56	57					2																	75882271		1810	4079	5889	SO:0001583	missense	0			AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"Mitochondrial ribosomal proteins / large subunits"	14052	protein-coding gene	gene with protein product	"39S ribosomal protein L19"	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.739C>G	2.37:g.75882271C>G	ENSP00000377486:p.Leu247Val		Q53TX9|Q96Q52	Missense_Mutation	SNP	pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19	p.L247V	ENST00000393909.2	37	c.739	CCDS1960.2	2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137521	0.77775	.	.	ENSG00000115364	ENST00000393909;ENST00000409374;ENST00000453233	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.73265	0.3565	M	0.73598	2.24	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	T	0.72050	-0.4407	9	0.30854	T	0.27	-25.9175	16.4344	0.83871	0.0:1.0:0.0:0.0	.	247	P49406	RM19_HUMAN	V	247;247;34	.	ENSP00000377486:L247V	L	+	1	0	MRPL19	75735779	1.000000	0.71417	0.980000	0.43619	0.917000	0.54804	3.745000	0.55119	2.549000	0.85964	0.655000	0.94253	CTT	MRPL19	-	NULL	ENSG00000115364		0.343	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL19	HGNC	protein_coding	OTTHUMT00000252256.1	-	0	159	0	C	NM_014763		75882271	1	tier1	-	no_errors	ENST00000393909	ensembl	human	known	74_37	missense	11.11	79	10	SNP	1.000	G	G	75882271	C	G	75882271	3	3	170	1	0	0	0	0	1	0	0	0	9822	913	32	5	761	5	MRPL19	2	75882271	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	20353245	75882271	167317102	34	42705											
KRCC1	51315	genome.wustl.edu	37	chr2	88327433	88327433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcggctttttttctcctttCgattcttaagcttttctgta	4	22	5	10	2	3	0	0	0	3	0	6	1	3	0	1	1	1	3	1	1	2	9			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:88327433C>T	ENST00000347055.3	-	4	1043	c.650G>A	c.(649-651)cGa>cAa	p.R217Q		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	217	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTTCTCCTTTCGATTCTTAAG	0.393																																																	0													152	162	159					2																	88327433		2203	4300	6503	SO:0001583	missense	0			AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.650G>A	2.37:g.88327433C>T	ENSP00000340083:p.Arg217Gln		Q3B7J7	Missense_Mutation	SNP	NULL	p.R217Q	ENST00000347055.3	37	c.650	CCDS2000.1	2	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174117	0.38413	.	.	ENSG00000172086	ENST00000347055	T	0.33216	1.42	5.98	2.99	0.34606	.	0.193712	0.31461	N	0.007605	T	0.23410	0.0566	L	0.57536	1.79	0.26838	N	0.968444	P	0.36249	0.545	B	0.21151	0.033	T	0.12268	-1.0554	10	0.54805	T	0.06	-3.7915	8.9653	0.35872	0.0:0.7316:0.0:0.2684	.	217	Q9NPI7	KRCC1_HUMAN	Q	217	ENSP00000340083:R217Q	ENSP00000340083:R217Q	R	-	2	0	KRCC1	88108548	0.085000	0.21516	0.893000	0.35052	0.912000	0.54170	1.158000	0.31737	0.311000	0.23014	0.650000	0.86243	CGA	KRCC1	-	NULL	ENSG00000172086		0.393	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRCC1	HGNC	protein_coding	OTTHUMT00000252664.1		0	25	0	C	NM_016618		88327433	-1			no_errors	ENST00000347055	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.837	T	T	88327433	C	T	88327433	3	4	170	1	0	0	0	0	1	0	0	0	8468	884	31	1	133	1	KRCC1	2	88327433	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	12445162	88327433	154871940	35	42706											
AFF3	3899	genome.wustl.edu	37	chr2	100623662	100623662	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagccttctgccagcccatAgtgcctctcttactctgctg	5	12	7	17	0	3	0	0	0	3	0	4	0	3	0	5	0	6	1	5	0	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:100623662A>G	ENST00000409236.2	-	4	547	c.435T>C	c.(433-435)acT>acC	p.T145T	AFF3_ENST00000317233.4_Silent_p.T145T|AFF3_ENST00000409579.1_Silent_p.T170T|AFF3_ENST00000356421.2_Silent_p.T170T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	145					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						GCCAGCCCATAGTGCCTCTCT	0.542																																																	0													93	100	98					2																	100623662		2203	4300	6503	SO:0001819	synonymous_variant	0			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.435T>C	2.37:g.100623662A>G			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	pfam_TF_AF4/FMR2	p.T170	ENST00000409236.2	37	c.510	CCDS42723.1	2																																																																																			AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.542	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	-	0	54	0	A	NM_002285		100623662	-1	tier1	-	no_errors	ENST00000356421	ensembl	human	known	74_37	silent	47.06	18	16	SNP	0.018	G	G	100623662	A	G	100623662	2	3	170	1	0	0	0	0	0	0	0	1	358	407	15	4		4	AFF3	2	100623662	Silent	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	12296229	100623662	142575711	36	42707											
NCK2	8440	genome.wustl.edu	37	chr2	106498469	106498469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctcaacgagcggggcgtGgagggcgacttcctcattag	7	7	15	12	4	2	0	2	0	0	0	3	3	3	1	2	4	2	0	2	4	2	2	rs375512251		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:106498469G>A	ENST00000233154.4	+	4	1354	c.912G>A	c.(910-912)gtG>gtA	p.V304V	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Silent_p.V304V|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	304	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						AGCGGGGCGTGGAGGGCGACT	0.682																																																	0								G	,,	1,4393		0,1,2196	20	22	21		912,,912	-10.7	0.6	2		21	0,8580		0,0,4290	no	coding-synonymous,intron,coding-synonymous	NCK2	NM_001004720.2,NM_001004722.3,NM_003581.4	,,	0,1,6486	AA,AG,GG		0.0,0.0228,0.0077	,,	304/381,,304/381	106498469	1,12973	2197	4290	6487	SO:0001819	synonymous_variant	0			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.912G>A	2.37:g.106498469G>A			D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.V304	ENST00000233154.4	37	c.912	CCDS33266.1	2																																																																																			NCK2	-	pfam_SH2,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2	ENSG00000071051		0.682	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCK2	HGNC	protein_coding	OTTHUMT00000329634.1	-	0	37	0	G	NM_003581		106498469	1	tier1	-	no_errors	ENST00000233154	ensembl	human	known	74_37	silent	32.26	41	20	SNP	0.922	A	A	106498469	G	A	106498469	2	1	170	1	0	0	0	0	0	0	0	1	10259	1335	47	3		3	NCK2	2	106498469	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	5874807	106498469	136700904	37	42708											
MERTK	10461	genome.wustl.edu	37	chr2	112786035	112786035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaagtttgcctgacgttcGgaaccaagcagacgttattt	12	11	10	8	3	0	3	0	1	0	2	1	4	0	4	2	1	3	4	2	1	4	4	rs546088670		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:112786035G>T	ENST00000295408.4	+	19	2851	c.2594G>T	c.(2593-2595)cGg>cTg	p.R865L	MERTK_ENST00000421804.2_Missense_Mutation_p.R865L|MERTK_ENST00000409780.1_Missense_Mutation_p.R689L			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	865			R -> W (in dbSNP:rs2230516). {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)	p.R865Q(1)		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						CCTGACGTTCGGAACCAAGCA	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											110	115	113					2																	112786035		2203	4300	6503	SO:0001583	missense	0			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.2594G>T	2.37:g.112786035G>T	ENSP00000295408:p.Arg865Leu		Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R865L	ENST00000295408.4	37	c.2594	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	G	7.792	0.711815	0.15306	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.81	-2.99	0.05497	Protein kinase-like domain (1);	0.894198	0.09052	U	0.855697	T	0.41766	0.1173	L	0.44542	1.39	0.09310	N	1	B	0.23058	0.079	B	0.19666	0.026	T	0.37911	-0.9685	10	0.54805	T	0.06	-0.3308	2.7843	0.05369	0.2831:0.3072:0.3086:0.1011	.	865	Q12866	MERTK_HUMAN	L	865;865;524;689;189	ENSP00000295408:R865L;ENSP00000389152:R865L;ENSP00000387277:R689L;ENSP00000412660:R189L	ENSP00000295408:R865L	R	+	2	0	MERTK	112502506	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.090000	0.11163	-0.389000	0.07786	-0.302000	0.09304	CGG	MERTK	-	superfamily_Kinase-like_dom,superfamily_Rhodanese-like_dom	ENSG00000153208		0.507	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2		0	69	0	G			112786035	1			no_errors	ENST00000295408	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.000	T	T	112786035	G	T	112786035	3	4	170	1	0	0	0	0	1	0	0	0	9517	1116	39	2	2668	2	MERTK	2	112786035	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	6287566	112786035	130413338	38	42709											
LRP1B	53353	genome.wustl.edu	37	chr2	141232707	141232707	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttatgttactggaccaacCtttgtgtctatgagatccat	10	16	7	8	0	1	1	0	1	1	1	2	3	2	2	3	1	2	1	3	1	4	5	rs77794732		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:141232707C>T	ENST00000389484.3	-	60	10596	c.9625G>A	c.(9625-9627)Gtc>Atc	p.V3209I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3209					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.V3209F(2)		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)		CTGGACCAACCTTTGTGTCTA	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												2	Substitution - Missense(2)	lung(2)											77	73	74					2																	141232707		2203	4299	6502	SO:0001630	splice_region_variant	0			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.9625+1G>A	2.37:g.141232707C>T			Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V3209I	ENST00000389484.3	37	c.9625	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762279	0.69763	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91295	-2.82	5.72	5.72	0.89469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000003	D	0.93099	0.7803	L	0.39633	1.23	0.58432	D	0.999997	D	0.58970	0.984	D	0.68192	0.956	D	0.91614	0.5305	9	.	.	.	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	3209	Q9NZR2	LRP1B_HUMAN	I	3209;3147	ENSP00000374135:V3209I	.	V	-	1	0	LRP1B	140949177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.771000	0.85420	2.704000	0.92352	0.650000	0.86243	GTC	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000168702		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2		0	31	0	C	NM_018557	Missense_Mutation	141232707	-1			no_errors	ENST00000389484	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	141232707	C	T	141232707	5	4	170	1	0	0	0	0	0	0	1	0	8990	695	24	3	4302	3	LRP1B	2	141232707	Splice_Site	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	28446672	141232707	101966666	39	42710											
GALNT3	2591	genome.wustl.edu	37	chr2	166615871	166615871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggtaggtttcatctttccTtctttgcttctcatgatcag	5	19	8	9	0	5	1	3	1	3	0	7	1	6	1	1	2	1	3	1	2	1	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:166615871T>C	ENST00000392701.3	-	5	1823	c.1048A>G	c.(1048-1050)Agg>Ggg	p.R350G	GALNT3_ENST00000409882.1_Missense_Mutation_p.R88G	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	350					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TCATCTTTCCTTCTTTGCTTC	0.383																																																	0													93	84	87					2																	166615871		2203	4300	6503	SO:0001583	missense	0				CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1048A>G	2.37:g.166615871T>C	ENSP00000376465:p.Arg350Gly		Q53TG9|Q7Z476	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R350G	ENST00000392701.3	37	c.1048	CCDS2226.1	2	.	.	.	.	.	.	.	.	.	.	T	18.72	3.684498	0.68157	.	.	ENSG00000115339	ENST00000392701;ENST00000409882;ENST00000412248	T;T;T	0.60424	0.19;0.19;0.19	5.56	2.98	0.34508	Glycosyl transferase, family 2 (1);	0.048419	0.85682	D	0.000000	T	0.69369	0.3103	M	0.79805	2.47	0.53688	D	0.999971	P	0.48407	0.91	P	0.53912	0.737	T	0.74057	-0.3787	10	0.87932	D	0	.	11.9535	0.52968	0.0:0.0:0.2748:0.7252	.	350	Q14435	GALT3_HUMAN	G	350;88;350	ENSP00000376465:R350G;ENSP00000386955:R88G;ENSP00000412643:R350G	ENSP00000376465:R350G	R	-	1	2	GALNT3	166324117	1.000000	0.71417	0.993000	0.49108	0.884000	0.51177	2.621000	0.46418	0.903000	0.36546	0.460000	0.39030	AGG	GALNT3	-	pfam_Glyco_trans_2	ENSG00000115339		0.383	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT3	HGNC	protein_coding	OTTHUMT00000255205.2	-	0	38	0	T	NM_004482		166615871	-1	tier1	-	no_errors	ENST00000392701	ensembl	human	known	74_37	missense	32.65	33	16	SNP	0.994	C	C	166615871	T	C	166615871	3	2	170	1	0	0	0	0	1	0	0	0	6239	1608	56	4	881	4	GALNT3	2	166615871	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	25383164	166615871	76583502	40	42711											
SCN1A	6323	genome.wustl.edu	37	chr2	166900494	166900494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctttgctcgccctctaaaGctgaaaaggcttgttctgct	7	14	8	12	1	2	1	0	1	2	0	4	1	3	1	2	1	3	5	2	1	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:166900494G>T	ENST00000303395.4	-	11	1727	c.1728C>A	c.(1726-1728)agC>agA	p.S576R	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.S576R|SCN1A_ENST00000409050.1_Missense_Mutation_p.S576R|SCN1A_ENST00000375405.3_Missense_Mutation_p.S576R			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	576					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)	GCCCTCTAAAGCTGAAAAGGC	0.448																																																	0													94	92	92					2																	166900494		2203	4300	6503	SO:0001583	missense	0			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.1728C>A	2.37:g.166900494G>T	ENSP00000303540:p.Ser576Arg		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.S576R	ENST00000303395.4	37	c.1728	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750124	0.49257	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	5.59	3.55	0.40652	Domain of unknown function DUF3451 (1);	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	M	0.85099	2.735	0.48901	D	0.999725	D;D;B	0.76494	0.999;0.999;0.256	D;D;B	0.87578	0.996;0.998;0.212	D	0.94995	0.8138	10	0.87932	D	0	.	8.2755	0.31871	0.2683:0.0:0.7317:0.0	.	576;576;576	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	R	576	ENSP00000407030:S576R;ENSP00000303540:S576R;ENSP00000364554:S576R;ENSP00000386312:S576R	ENSP00000303540:S576R	S	-	3	2	SCN1A	166608740	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.742000	0.47434	0.534000	0.28695	0.561000	0.74099	AGC	SCN1A	-	pfam_DUF3451	ENSG00000144285		0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0	71	0	G	NM_006920		166900494	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	166900494	G	T	166900494	3	4	170	1	0	0	0	0	1	0	0	0	13959	962	34	3	4365	3	SCN1A	2	166900494	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	284623	166900494	76298879	41	42712											
CHRNA1	1134	genome.wustl.edu	37	chr2	175614679	175614679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctccccactcaccttccGcacccagttgggcatgacat	7	8	8	18	1	1	1	1	1	0	0	3	1	3	1	6	2	0	3	6	2	0	2	rs374391312		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:175614679G>A	ENST00000261007.5	-	8	1138	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	CHRNA1_ENST00000348749.5_Missense_Mutation_p.R333W|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R251W|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R333W	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	358					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CTCACCTTCCGCACCCAGTTG	0.567																																																	0			GRCh37	CM086805	CHRNA1	M		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	95	79	85		997,1072	3.6	1	2		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHRNA1	NM_000079.3,NM_001039523.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	333/458,358/483	175614679	1,13005	2203	4300	6503	SO:0001583	missense	0			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1072C>T	2.37:g.175614679G>A	ENSP00000261007:p.Arg358Trp		B4DRV6|D3DPE8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.R358W	ENST00000261007.5	37	c.1072	CCDS33331.1	2	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312388	0.60414	0.0	1.16E-4	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.64	3.61	0.41365	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95329	0.8484	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.95783	0.8818	10	0.87932	D	0	.	11.9266	0.52823	0.0:0.0:0.4057:0.5943	.	333;358	Q53SH4;P02708	.;ACHA_HUMAN	W	333;358;251;333	ENSP00000261008:R333W;ENSP00000261007:R358W;ENSP00000387026:R251W;ENSP00000386611:R333W	ENSP00000261007:R358W	R	-	1	2	CHRNA1	175322925	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.055000	0.64282	1.315000	0.45114	0.655000	0.94253	CGG	CHRNA1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000138435		0.567	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	-	0	28	0	G			175614679	-1	tier1	-	no_errors	ENST00000261007	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	A	A	175614679	G	A	175614679	3	1	170	1	0	0	0	0	1	0	0	0	3388	1086	38	1	388	1	CHRNA1	2	175614679	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	8714185	175614679	67584694	42	42713											
CHRNA1	1134	genome.wustl.edu	37	chr2	175614871	175614871	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	cacagtcaaagacagtaagaCagagatgctcagagtcatct	16	7	9	9	0	4	4	3	0	1	4	4	5	4	4	0	0	1	2	0	0	2	1	rs137852803		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:175614871C>G	ENST00000261007.5	-	8	946	c.880G>C	c.(880-882)Gtc>Ctc	p.V294L	CHRNA1_ENST00000348749.5_Missense_Mutation_p.V269L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V187L|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V269L	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	294			V -> F (in SCCMS; causes increased channel opening in absence of ACh; prolonged opening in presence of ACh; increased affinity for ACh and enhanced desensitization). {ECO:0000269|PubMed:9221765}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GACAGTAAGACAGAGATGCTC	0.478																																																	0			GRCh37	CM973279	CHRNA1	M	rs137852803						114	96	102					2																	175614871		2203	4300	6503	SO:0001583	missense	0			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.880G>C	2.37:g.175614871C>G	ENSP00000261007:p.Val294Leu		B4DRV6|D3DPE8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.V294L	ENST00000261007.5	37	c.880	CCDS33331.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181761	0.78677	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91081	0.7193	L	0.43923	1.385	0.80722	D	1	P;D	0.56746	0.837;0.977	P;D	0.65323	0.583;0.934	D	0.91644	0.5329	10	0.87932	D	0	.	19.6278	0.95687	0.0:1.0:0.0:0.0	.	269;294	Q53SH4;P02708	.;ACHA_HUMAN	L	269;294;187;269	ENSP00000261008:V269L;ENSP00000261007:V294L;ENSP00000387026:V187L;ENSP00000386611:V269L	ENSP00000261007:V294L	V	-	1	0	CHRNA1	175323117	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.818000	0.86416	2.642000	0.89623	0.655000	0.94253	GTC	CHRNA1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000138435		0.478	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	-	0	65	0	C			175614871	-1	tier1	-	no_errors	ENST00000261007	ensembl	human	known	74_37	missense	21.82	43	12	SNP	1.000	G	G	175614871	C	G	175614871	3	3	170	1	0	0	0	0	1	0	0	0	3388	478	17	5	580	5	CHRNA1	2	175614871	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	192	175614871	67584502	43	42714											
OSBPL6	114880	genome.wustl.edu	37	chr2	179247885	179247885	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttggtaaagacctgtctaaaGtctctatgcctgtggagcta	10	13	10	8	0	2	1	0	0	2	1	3	2	2	2	2	2	2	2	2	2	6	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:179247885G>T	ENST00000190611.4	+	17	2132	c.1756G>T	c.(1756-1758)Gtc>Ttc	p.V586F	OSBPL6_ENST00000315022.2_Missense_Mutation_p.V590F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V550F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V550F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V611F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V555F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	586					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCTGTCTAAAGTCTCTATGCC	0.502																																																	0													79	81	80					2																	179247885		2203	4300	6503	SO:0001583	missense	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1756G>T	2.37:g.179247885G>T	ENSP00000190611:p.Val586Phe		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V590F	ENST00000190611.4	37	c.1768	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.081426	0.94050	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	6.04	6.04	0.98038	.	0.102852	0.64402	D	0.000003	T	0.65196	0.2668	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.997;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.977;0.963;0.999;0.993	T	0.65874	-0.6062	10	0.87932	D	0	-13.7997	20.5948	0.99439	0.0:0.0:1.0:0.0	.	555;590;550;611;586	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	F	611;550;555;586;550;590	ENSP00000376293:V611F;ENSP00000352713:V550F;ENSP00000387248:V555F;ENSP00000190611:V586F;ENSP00000386885:V550F;ENSP00000318723:V590F	ENSP00000190611:V586F	V	+	1	0	OSBPL6	178956131	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GTC	OSBPL6	-	pfam_Oxysterol-bd	ENSG00000079156		0.502	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	-	0	27	0	G	NM_032523		179247885	1	tier1	-	no_errors	ENST00000315022	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	T	T	179247885	G	T	179247885	3	4	170	1	0	0	0	0	1	0	0	0	11320	1029	36	3	1936	3	OSBPL6	2	179247885	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	3633014	179247885	63951488	44	42715											
TTN	7273	genome.wustl.edu	37	chr2	179593288	179593288	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattttccaccttgaaagtGtactgaccgctgtcctgctt	7	15	7	12	1	1	2	1	2	0	0	3	2	3	2	4	0	2	3	4	0	2	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:179593288G>T	ENST00000591111.1	-	64	18638	c.18414C>A	c.(18412-18414)taC>taA	p.Y6138*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y6455*|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y5211*			Q8WZ42	TITIN_HUMAN	titin	12924	Ig-like 42.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGAAAGTGTACTGACCGC	0.408																																																	0													68	60	63					2																	179593288		1902	4130	6032	SO:0001587	stop_gained	0			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.18414C>A	2.37:g.179593288G>T	ENSP00000465570:p.Tyr6138*		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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Y5211*	ENST00000591111.1	37	c.15633		2	.	.	.	.	.	.	.	.	.	.	G	55	24.953827	0.99963	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.63	-4.09	0.03951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.0743	0.86582	0.309:0.0:0.691:0.0	.	.	.	.	X	5211	.	ENSP00000343764:Y5211X	Y	-	3	2	TTN	179301533	0.963000	0.33076	0.811000	0.32455	0.489000	0.33432	0.171000	0.16685	-0.906000	0.03866	-0.937000	0.02696	TAC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	61	0	G	NM_133378		179593288	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	0.962	T	T	179593288	G	T	179593288	4	4	170	1	0	0	0	0	0	1	0	0	16784	1372	48	3	85352	3	TTN	2	179593288	Nonsense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	345403	179593288	63606085	45	42716											
TTN	7273	genome.wustl.edu	37	chr2	179638020	179638020	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggacatcaattccagagtgGgacagctcaacctcaaacac	15	6	8	12	0	3	1	3	0	0	1	4	3	4	3	2	2	3	1	2	2	3	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:179638020G>T	ENST00000591111.1	-	33	7895	c.7671C>A	c.(7669-7671)tcC>tcA	p.S2557S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Silent_p.S2557S|TTN_ENST00000360870.5_Silent_p.S2557S|TTN_ENST00000359218.5_Silent_p.S2511S|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Silent_p.S2511S|TTN_ENST00000460472.2_Silent_p.S2511S|TTN_ENST00000342992.6_Silent_p.S2557S			Q8WZ42	TITIN_HUMAN	titin	12880					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)			TTCCAGAGTGGGACAGCTCAA	0.348																																																	0													42	44	43					2																	179638020		2201	4300	6501	SO:0001819	synonymous_variant	0			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.7671C>A	2.37:g.179638020G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S2557	ENST00000591111.1	37	c.7671		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	81	0	G	NM_133378		179638020	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.999	T	T	179638020	G	T	179638020	2	4	170	1	0	0	0	0	0	0	0	1	16784	1219	43	3		3	TTN	2	179638020	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	44732	179638020	63561353	46	42717											
STAT1	6772	genome.wustl.edu	37	chr2	191873731	191873731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgttatgctgtagcaaGaagttattctccaaagaaaa	15	13	7	6	0	1	2	0	0	1	2	2	2	1	2	1	0	2	5	1	0	9	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:191873731G>T	ENST00000361099.3	-	4	618	c.231C>A	c.(229-231)ttC>ttA	p.F77L	STAT1_ENST00000409465.1_Missense_Mutation_p.F77L|STAT1_ENST00000540176.1_Missense_Mutation_p.F77L|STAT1_ENST00000392323.2_Missense_Mutation_p.F79L|STAT1_ENST00000392322.3_Missense_Mutation_p.F77L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	77					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)			GCTGTAGCAAGAAGTTATTCT	0.393																																																	0													104	96	99					2																	191873731		2203	4300	6503	SO:0001583	missense	0				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.231C>A	2.37:g.191873731G>T	ENSP00000354394:p.Phe77Leu		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.F77L	ENST00000361099.3	37	c.231	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980891	0.34942	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000540176;ENST00000392322;ENST00000392323;ENST00000424722;ENST00000454414	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.67	-2.31	0.06765	STAT transcription factor, protein interaction (4);	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	L	0.50333	1.59	0.51233	D	0.99991	D;B	0.76494	0.999;0.093	D;B	0.85130	0.997;0.313	T	0.42085	-0.9472	10	0.28530	T	0.3	-25.2836	10.8649	0.46849	0.5643:0.0:0.4357:0.0	.	77;77	P42224-2;P42224	.;STAT1_HUMAN	L	77;77;77;77;79;77;77	ENSP00000354394:F77L;ENSP00000386244:F77L;ENSP00000438703:F77L;ENSP00000376136:F77L;ENSP00000376137:F79L;ENSP00000402548:F77L;ENSP00000411398:F77L	ENSP00000354394:F77L	F	-	3	2	STAT1	191581976	1.000000	0.71417	0.065000	0.19835	0.596000	0.36781	1.741000	0.38238	-0.363000	0.08101	-1.031000	0.02408	TTC	STAT1	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction	ENSG00000115415		0.393	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	-	0	46	0	G	NM_007315		191873731	-1	tier1	-	no_errors	ENST00000361099	ensembl	human	known	74_37	missense	65.96	16	31	SNP	0.990	T	T	191873731	G	T	191873731	3	4	170	1	0	0	0	0	1	0	0	0	15311	933	33	3	2113	3	STAT1	2	191873731	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	12235711	191873731	51325642	47	42718											
CCDC150	284992	genome.wustl.edu	37	chr2	197531518	197531518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaactactggcccaggaaCaaaaaaaaaaagaagagttg	22	4	9	6	0	0	3	0	0	0	3	0	4	0	4	1	2	3	1	1	2	10	2	rs376590781		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:197531518C>A	ENST00000389175.4	+	7	973	c.838C>A	c.(838-840)Caa>Aaa	p.Q280K	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	280										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCCCAGGAACAAAAAAAAAA	0.373																																																	0													34	33	34					2																	197531518		1747	3902	5649	SO:0001583	missense	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.838C>A	2.37:g.197531518C>A	ENSP00000373827:p.Gln280Lys		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.Q280K	ENST00000389175.4	37	c.838	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631673	0.29068	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.26373	1.74	5.53	4.64	0.57946	.	1.202860	0.06048	N	0.656046	T	0.26231	0.0640	L	0.57536	1.79	0.31316	N	0.686582	B;B	0.17667	0.013;0.023	B;B	0.14578	0.007;0.011	T	0.41805	-0.9488	10	0.09338	T	0.73	-2.5955	9.0618	0.36438	0.1674:0.6712:0.1614:0.0	.	280;280	Q8NCX0;F5H6M2	CC150_HUMAN;.	K	280	ENSP00000373827:Q280K	ENSP00000373827:Q280K	Q	+	1	0	CCDC150	197239763	0.809000	0.29036	0.741000	0.31004	0.824000	0.46624	1.130000	0.31393	1.533000	0.49186	0.655000	0.94253	CAA	CCDC150	-	NULL	ENSG00000144395		0.373	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	-	0	60	0	C	NM_001080539		197531518	1	tier1	-	no_errors	ENST00000389175	ensembl	human	known	74_37	missense	10.29	61	7	SNP	0.494	A	A	197531518	C	A	197531518	3	1	170	1	0	0	0	0	1	0	0	0	2792	479	17	3	864	3	CCDC150	2	197531518	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	5657787	197531518	45667855	48	42719											
BARD1	580	genome.wustl.edu	37	chr2	215646173	215646173	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctaaaccacattttaattGaattcttcttgtttcctgca	10	17	5	9	0	2	1	0	1	2	0	3	1	3	1	2	1	2	3	2	1	4	8			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:215646173G>T	ENST00000260947.4	-	4	559	c.425C>A	c.(424-426)tCa>tAa	p.S142*	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	142					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATTTTAATTGAATTCTTCTT	0.328									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													85	88	87					2																	215646173		2203	4299	6502	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.425C>A	2.37:g.215646173G>T	ENSP00000260947:p.Ser142*		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.S142*	ENST00000260947.4	37	c.425	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.286246	0.95517	.	.	ENSG00000138376	ENST00000260947	.	.	.	6.05	5.0	0.66597	.	0.687301	0.14247	N	0.331676	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.602	8.2767	0.31877	0.0845:0.0:0.6597:0.2558	.	.	.	.	X	142	.	ENSP00000260947:S142X	S	-	2	0	BARD1	215354418	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.089000	0.50183	2.878000	0.98634	0.650000	0.86243	TCA	BARD1	-	NULL	ENSG00000138376		0.328	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	-	0	53	0	G	NM_000465		215646173	-1	tier1	-	no_errors	ENST00000260947	ensembl	human	known	74_37	nonsense	75.61	10	31	SNP	0.997	T	T	215646173	G	T	215646173	4	4	170	1	0	0	0	0	0	1	0	0	1313	1294	45	3	1940	3	BARD1	2	215646173	Nonsense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	18114655	215646173	27553200	49	42720											
CUL3	8452	genome.wustl.edu	37	chr2	225367752	225367752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctcatatccctaaacattCcttccagttttgacgtgaac	10	14	5	12	1	1	2	1	2	0	0	4	2	4	2	3	0	3	2	3	0	4	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:225367752C>T	ENST00000264414.4	-	10	1753	c.1415G>A	c.(1414-1416)gGa>gAa	p.G472E	CUL3_ENST00000409096.1_Missense_Mutation_p.G448E|CUL3_ENST00000409777.1_Missense_Mutation_p.G448E|CUL3_ENST00000344951.4_Missense_Mutation_p.G406E	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	472					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)		CCTAAACATTCCTTCCAGTTT	0.373																																																	0													285	264	271					2																	225367752		2203	4300	6503	SO:0001583	missense	0			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.1415G>A	2.37:g.225367752C>T	ENSP00000264414:p.Gly472Glu		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.G472E	ENST00000264414.4	37	c.1415	CCDS2462.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.615673	0.96649	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	6.03	6.03	0.97812	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.996	D	0.90809	0.4700	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	406;450;472	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	E	472;406;448;448	ENSP00000264414:G472E;ENSP00000343601:G406E;ENSP00000387200:G448E;ENSP00000386525:G448E	ENSP00000264414:G472E	G	-	2	0	CUL3	225075996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	GGA	CUL3	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000036257		0.373	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	-	0	64	0	C			225367752	-1	tier1	-	no_errors	ENST00000264414	ensembl	human	known	74_37	missense	73.21	15	41	SNP	1.000	T	T	225367752	C	T	225367752	3	4	170	1	0	0	0	0	1	0	0	0	4065	855	30	3	919	3	CUL3	2	225367752	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	9721579	225367752	17831621	50	42721											
COL4A4	1286	genome.wustl.edu	37	chr2	227973326	227973326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	catttgcccctttactcccaCaccgggatttccctgagaaa	9	11	6	15	1	0	1	0	1	0	1	2	3	2	2	5	1	2	0	5	1	2	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr2:227973326C>T	ENST00000396625.3	-	12	913	c.706G>A	c.(706-708)Gtg>Atg	p.V236M	COL4A4_ENST00000329662.7_Missense_Mutation_p.V236M	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	236	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTACTCCCACACCGGGATTT	0.423																																																	0													94	97	96					2																	227973326		1869	4095	5964	SO:0001583	missense	0				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.706G>A	2.37:g.227973326C>T	ENSP00000379866:p.Val236Met		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.V236M	ENST00000396625.3	37	c.706	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163949	0.38217	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94330	-3.4;-3.4	5.01	2.19	0.27852	.	.	.	.	.	D	0.89206	0.6649	L	0.49455	1.56	0.21445	N	0.999682	B	0.33345	0.409	B	0.33620	0.167	T	0.78687	-0.2107	9	0.36615	T	0.2	.	6.5367	0.22357	0.0:0.6865:0.0:0.3135	.	236	P53420	CO4A4_HUMAN	M	236	ENSP00000379866:V236M;ENSP00000328553:V236M	ENSP00000328553:V236M	V	-	1	0	COL4A4	227681570	0.138000	0.22547	0.959000	0.39883	0.933000	0.57130	0.382000	0.20635	0.230000	0.21059	0.585000	0.79938	GTG	COL4A4	-	NULL	ENSG00000081052		0.423	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	-	0	95	0	C	NM_000092		227973326	-1	tier1	-	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	72.73	15	40	SNP	0.919	T	T	227973326	C	T	227973326	3	4	170	1	0	0	0	0	1	0	0	0	3700	478	17	3	4514	3	COL4A4	2	227973326	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	2605574	227973326	15226047	51	42722											
SETD5	55209	genome.wustl.edu	37	chr3	9506277	9506277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggagaagaggagtgtcGaaatggatacagcctcatgt	13	7	13	8	1	1	2	1	0	0	2	2	6	1	4	2	3	2	0	2	3	3	1	rs200142019		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:9506277G>T	ENST00000406341.1	+	17	2835	c.2645G>T	c.(2644-2646)cGa>cTa	p.R882L	SETD5_ENST00000402198.1_Missense_Mutation_p.R882L|SETD5_ENST00000407969.1_Missense_Mutation_p.R901L|SETD5_ENST00000302463.6_Missense_Mutation_p.R784L|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402466.1_Missense_Mutation_p.R784L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	882										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)		GAGGAGTGTCGAAATGGATAC	0.532																																																	0													143	141	141					3																	9506277		2004	4182	6186	SO:0001583	missense	0			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.2645G>T	3.37:g.9506277G>T	ENSP00000383939:p.Arg882Leu		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.R882L	ENST00000406341.1	37	c.2645	CCDS46741.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.076516	0.94000	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.94576	-3.09;-3.46;-3.09;-3.07;-3.46	5.78	5.78	0.91487	.	0.113942	0.45361	D	0.000372	D	0.95825	0.8641	L	0.32530	0.975	0.53688	D	0.999978	D;D;D;D	0.89917	1.0;0.998;0.993;0.993	D;D;D;D	0.91635	0.999;0.994;0.982;0.953	D	0.96286	0.9210	10	0.87932	D	0	-9.2635	19.9991	0.97403	0.0:0.0:1.0:0.0	.	551;784;882;901	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	L	882;784;882;901;784	ENSP00000385852:R882L;ENSP00000384429:R784L;ENSP00000383939:R882L;ENSP00000384114:R901L;ENSP00000302028:R784L	ENSP00000302028:R784L	R	+	2	0	SETD5	9481277	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.754000	0.68743	2.724000	0.93272	0.655000	0.94253	CGA	SETD5	-	NULL	ENSG00000168137		0.532	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1		0	85	0	G	XM_371614		9506277	1			no_errors	ENST00000402198	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	9506277	G	T	9506277	3	4	170	1	0	0	0	0	1	0	0	0	14179	1058	37	2	2707	2	SETD5	3	9506277	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09		9506277	188516153	52	42723											
MLH1	4292	genome.wustl.edu	37	chr3	37042452	37042452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtatctaacagaaagaaGatctggatattgtatgtgaa	15	13	10	3	0	2	4	0	1	2	3	2	5	2	5	0	2	1	2	0	2	7	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:37042452G>T	ENST00000231790.2	+	3	430	c.214G>T	c.(214-216)Gat>Tat	p.D72Y	MLH1_ENST00000435176.1_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	72					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)	p.D72Y(1)		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						ACAGAAAGAAGATCTGGATAT	0.338		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"	1	Substitution - Missense(1)	lung(1)											119	118	118					3																	37042452		2203	4300	6503	SO:0001583	missense	0	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.214G>T	3.37:g.37042452G>T	ENSP00000231790:p.Asp72Tyr		B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N	p.D72Y	ENST00000231790.2	37	c.214	CCDS2663.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.865004|4.865004	0.91511|0.91511	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937|ENST00000456676	D|.	0.95622|.	-3.76|.	6.03|6.03	6.03|6.03	0.97812|0.97812	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);|.	0.047777|.	0.85682|.	D|.	0.000000|.	D|D	0.88793|0.88793	0.6533|0.6533	H|H	0.96720|0.96720	3.87|3.87	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	0.91604|0.91604	0.5297|0.5297	10|5	0.87932|.	D|.	0|.	-26.1888|-26.1888	19.3283|19.3283	0.94273|0.94273	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	72;72|.	Q53GX1;P40692|.	.;MLH1_HUMAN|.	Y|N	72;38;38|63	ENSP00000231790:D72Y|.	ENSP00000231790:D72Y|.	D|K	+|+	1|3	0|2	MLH1|MLH1	37017456|37017456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.827000|8.827000	0.92041|0.92041	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|AAG	MLH1	-	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N	ENSG00000076242		0.338	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	HGNC	protein_coding	OTTHUMT00000253337.2		0	86	0	G	NM_000249		37042452	1			no_errors	ENST00000231790	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	37042452	G	T	37042452	3	4	170	1	0	0	0	0	1	0	0	0	9655	942	33	3	224	3	MLH1	3	37042452	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	27536175	37042452	160979978	53	42724											
DLEC1	30	genome.wustl.edu	37	chr3	38164060	38164060	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccttccacaatggtctcagCctaggccctcatgatatgtc	8	11	7	15	0	2	1	2	1	1	0	5	1	3	1	4	2	1	0	4	2	3	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:38164060C>T	ENST00000333167.8	-	0	1785				DLEC1_ENST00000346219.3_Silent_p.S1767S|DLEC1_ENST00000308059.6_3'UTR|DLEC1_ENST00000452631.2_3'UTR|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000480865.1_5'Flank	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		ATGGTCTCAGCCTAGGCCCTC	0.532																																																	0													17	17	17					3																	38164060		1891	4040	5931	SO:0001628	intergenic_variant	0			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38164060C>T			G5E935|Q96CA6	Silent	SNP	superfamily_PapD-like	p.S1767	ENST00000333167.8	37	c.5301	CCDS2673.1	3																																																																																			DLEC1	-	NULL	ENSG00000008226		0.532	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000342980.1	-	0	44	0	C	NM_001607		38164060	1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.000	T	T	38164060	C	T	38164060	1	4	170	0	1	0	0	0	0	0	0	0	4566	738	26	3		3	DLEC1	3	38164060	IGR	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	1121608	38164060	159858370	54	42725											
C3orf39	84892	genome.wustl.edu	37	chr3	43122845	43122845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagtgtggctgcatgctCacgcagccgcacatgcttcc	6	9	10	16	2	1	0	1	0	0	0	3	0	3	0	3	1	4	6	3	1	0	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:43122845C>T	ENST00000344697.2	-	2	424	c.79G>A	c.(79-81)Gag>Aag	p.E27K	POMGNT2_ENST00000441964.1_Missense_Mutation_p.E27K	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	27					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										GCTGCATGCTCACGCAGCCGC	0.647																																																	0													30	25	26					3																	43122845		2203	4299	6502	SO:0001583	missense	0			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.79G>A	3.37:g.43122845C>T	ENSP00000344125:p.Glu27Lys		B3KWC3|Q96SY3	Missense_Mutation	SNP	pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3	p.E27K	ENST00000344697.2	37	c.79	CCDS2709.1	3	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870734	0.51695	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.80393	-1.37;-1.37	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.77532	0.4144	L	0.57536	1.79	0.80722	D	1	B	0.24092	0.097	B	0.21917	0.037	T	0.74456	-0.3659	10	0.45353	T	0.12	-12.1921	14.0591	0.64788	0.0:0.9277:0.0:0.0723	.	27	Q8NAT1	AGO61_HUMAN	K	27	ENSP00000408992:E27K;ENSP00000344125:E27K	ENSP00000344125:E27K	E	-	1	0	C3orf39	43097849	1.000000	0.71417	0.886000	0.34754	0.596000	0.36781	7.813000	0.86123	1.432000	0.47375	0.561000	0.74099	GAG	POMGNT2	-	NULL	ENSG00000144647		0.647	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT2	HGNC	protein_coding	OTTHUMT00000256643.1	-	0	40	0	C	NM_032806		43122845	-1	tier1	-	no_errors	ENST00000344697	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.999	T	T	43122845	C	T	43122845	3	4	170	1	0	0	0	0	1	0	0	0	2236	835	29	3	1667	3	C3orf39	3	43122845	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	4958785	43122845	154899585	55	42726											
ZNF167	55888	genome.wustl.edu	37	chr3	44598659	44598659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacctgggggcagggcagCagtctccagaagaactatcc	11	5	13	12	0	1	3	0	0	1	3	3	3	2	3	3	3	2	3	3	3	3	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:44598659C>T	ENST00000273320.3	+	2	549	c.120C>T	c.(118-120)agC>agT	p.S40S	ZKSCAN7_ENST00000341840.3_Silent_p.S40S|ZKSCAN7_ENST00000426540.1_Silent_p.S40S|ZKSCAN7_ENST00000431636.1_Silent_p.S40S|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	40					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)										GGCAGGGCAGCAGTCTCCAGA	0.562																																																	0													59	60	60					3																	44598659		2203	4300	6503	SO:0001819	synonymous_variant	0			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.120C>T	3.37:g.44598659C>T			A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S40	ENST00000273320.3	37	c.120	CCDS2715.1	3																																																																																			ZKSCAN7	-	NULL	ENSG00000196345		0.562	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN7	HGNC	protein_coding	OTTHUMT00000256752.4	-	0	59	0	C	NM_018651		44598659	1	tier1	-	no_errors	ENST00000273320	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.998	T	T	44598659	C	T	44598659	2	4	170	1	0	0	0	0	0	0	0	1	17789	709	25	3		3	ZNF167	3	44598659	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	1475814	44598659	153423771	56	42727											
PTPN23	25930	genome.wustl.edu	37	chr3	47448624	47448624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaccctccacaggttgCatacttccagagcgccctgg	7	8	9	17	1	0	1	0	0	0	1	2	1	2	1	5	2	4	2	5	2	1	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:47448624C>T	ENST00000265562.4	+	10	889	c.812C>T	c.(811-813)gCa>gTa	p.A271V	PTPN23_ENST00000431726.1_Missense_Mutation_p.A145V	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	271	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCACAGGTTGCATACTTCCAG	0.592																																																	0													72	64	67					3																	47448624		2203	4300	6503	SO:0001583	missense	0			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.812C>T	3.37:g.47448624C>T	ENSP00000265562:p.Ala271Val		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A271V	ENST00000265562.4	37	c.812	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517751	0.85495	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.26518	1.73	5.37	4.3	0.51218	BRO1 domain (3);	0.121926	0.53938	D	0.000051	T	0.33527	0.0866	M	0.63169	1.94	0.80722	D	1	D;P	0.58620	0.983;0.874	P;B	0.49637	0.617;0.121	T	0.07102	-1.0790	10	0.54805	T	0.06	-21.6736	10.7757	0.46348	0.0:0.8539:0.0:0.1461	.	145;271	B4DST5;Q9H3S7	.;PTN23_HUMAN	V	236;271	ENSP00000265562:A271V	ENSP00000265562:A271V	A	+	2	0	PTPN23	47423628	1.000000	0.71417	0.985000	0.45067	0.739000	0.42172	4.494000	0.60347	2.504000	0.84457	0.561000	0.74099	GCA	PTPN23	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000076201		0.592	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	-	0	42	0	C	NM_015466		47448624	1	tier1	-	no_errors	ENST00000265562	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.961	T	T	47448624	C	T	47448624	3	4	170	1	0	0	0	0	1	0	0	0	12833	710	25	3	850	3	PTPN23	3	47448624	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	2849965	47448624	150573806	57	42728											
DALRD3	55152	genome.wustl.edu	37	chr3	49053422	49053422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatctctgtgcgtacaGcaatgtggagccccggggct	7	9	12	13	2	2	0	1	0	1	0	3	1	2	1	3	3	4	3	3	3	2	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:49053422G>A	ENST00000341949.4	-	10	1433	c.1427C>T	c.(1426-1428)gCt>gTt	p.A476V	DALRD3_ENST00000395462.4_Missense_Mutation_p.A309V|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_Missense_Mutation_p.A309V|DALRD3_ENST00000441576.2_Silent_p.C467C|DALRD3_ENST00000440857.1_Missense_Mutation_p.A309V	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	476					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTGCGTACAGCAATGTGGAG	0.552																																																	0													66	73	70					3																	49053422		2203	4300	6503	SO:0001583	missense	0			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1427C>T	3.37:g.49053422G>A	ENSP00000344989:p.Ala476Val		Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd	p.A476V	ENST00000341949.4	37	c.1427	CCDS33754.1	3	.	.	.	.	.	.	.	.	.	.	G	3.782	-0.045402	0.07452	.	.	ENSG00000178149	ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778	T;T;T;T	0.45276	0.91;0.9;0.91;0.9	4.96	3.08	0.35506	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);	0.564340	0.19737	N	0.107215	T	0.27594	0.0678	N	0.22421	0.69	0.09310	N	1	B;B	0.19331	0.028;0.035	B;B	0.20955	0.031;0.032	T	0.15464	-1.0436	10	0.30078	T	0.28	-0.3166	10.5713	0.45202	0.0732:0.1326:0.7941:0.0	.	309;476	C9JJG6;Q5D0E6	.;DALD3_HUMAN	V	476;309;309;309	ENSP00000344989:A476V;ENSP00000378846:A309V;ENSP00000403770:A309V;ENSP00000323265:A309V	ENSP00000323265:A309V	A	-	2	0	DALRD3	49028426	0.035000	0.19736	0.004000	0.12327	0.103000	0.19146	1.936000	0.40183	1.275000	0.44379	0.556000	0.70494	GCT	DALRD3	-	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd	ENSG00000178149		0.552	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	-	0	26	0	G	NM_018114		49053422	-1	tier1	-	no_errors	ENST00000341949	ensembl	human	known	74_37	missense	87.50	2	14	SNP	0.013	A	A	49053422	G	A	49053422	3	1	170	1	0	0	0	0	1	0	0	0	4238	971	34	3	216	3	DALRD3	3	49053422	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1604798	49053422	148969008	58	42729											
FOXP1	27086	genome.wustl.edu	37	chr3	71019898	71019898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatcttacctgtaaagctgCattgagaggtgtgcagtagg	11	12	12	6	0	1	1	0	1	1	1	1	2	1	1	1	2	4	5	1	2	5	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:71019898C>T	ENST00000318789.4	-	19	2236	c.1711G>A	c.(1711-1713)Gca>Aca	p.A571T	FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000475937.1_Missense_Mutation_p.A571T|FOXP1_ENST00000491238.1_Missense_Mutation_p.A573T|FOXP1_ENST00000493089.1_Missense_Mutation_p.A570T|FOXP1_ENST00000484350.1_Missense_Mutation_p.A495T|FOXP1_ENST00000498215.1_Missense_Mutation_p.A571T	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	571					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGTAAAGCTGCATTGAGAGGT	0.418			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													154	156	155					3																	71019898		2203	4300	6503	SO:0001583	missense	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1711G>A	3.37:g.71019898C>T	ENSP00000318902:p.Ala571Thr		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.A571T	ENST00000318789.4	37	c.1711	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297906	0.81025	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350	D;D;D;D;D;D;D	0.91068	-2.67;-2.67;-2.78;-2.78;-2.67;-2.67;-2.68	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.94414	0.8203	M	0.65975	2.015	0.80722	D	1	D;B;B	0.61697	0.99;0.053;0.023	P;B;B	0.60682	0.878;0.109;0.074	D	0.93043	0.6459	10	0.46703	T	0.11	.	20.8599	0.99761	0.0:1.0:0.0:0.0	.	570;495;571	G5E9V8;Q8NAN6;Q9H334	.;.;FOXP1_HUMAN	T	571;383;571;467;573;570;571;495	ENSP00000318902:A571T;ENSP00000419393:A571T;ENSP00000418225:A467T;ENSP00000420736:A573T;ENSP00000418524:A570T;ENSP00000418102:A571T;ENSP00000417857:A495T	ENSP00000318902:A571T	A	-	1	0	FOXP1	71102588	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.608000	0.82898	2.937000	0.99478	0.650000	0.86243	GCA	FOXP1	-	NULL	ENSG00000114861		0.418	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1		0	60	0	C	NM_032682		71019898	-1			no_errors	ENST00000318789	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	71019898	C	T	71019898	3	4	170	1	0	0	0	0	1	0	0	0	6050	710	25	3	334	3	FOXP1	3	71019898	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	21966476	71019898	127002532	59	42730											
SLC35A5	55032	genome.wustl.edu	37	chr3	112282359	112282359	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	gctcaagtcgcatcttactaGtgaagtattctgccaatgaa	12	12	8	9	1	3	2	1	2	2	0	4	2	3	2	1	0	2	3	1	0	7	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:112282359G>C	ENST00000492406.1	+	2	392	c.109G>C	c.(109-111)Gtg>Ctg	p.V37L	SLC35A5_ENST00000460713.1_3'UTR|ATG3_ENST00000402314.2_5'Flank|ATG3_ENST00000495756.1_5'Flank|ATG3_ENST00000283290.5_5'Flank	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	37					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CATCTTACTAGTGAAGTATTC	0.393																																																	0													162	140	148					3																	112282359		2203	4300	6503	SO:0001583	missense	0			AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"Solute carriers"	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.109G>C	3.37:g.112282359G>C	ENSP00000417654:p.Val37Leu		D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.V37L	ENST00000492406.1	37	c.109	CCDS2967.1	3	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968082	0.34754	.	.	ENSG00000138459	ENST00000484995;ENST00000492406;ENST00000468642	T	0.40225	1.04	5.96	4.98	0.66077	.	0.234366	0.43747	D	0.000525	T	0.27697	0.0681	L	0.35723	1.085	0.38105	D	0.937389	B	0.10296	0.003	B	0.09377	0.004	T	0.12293	-1.0553	10	0.09590	T	0.72	-13.365	8.3609	0.32359	0.162:0.0:0.838:0.0	.	37	Q9BS91	S35A5_HUMAN	L	37	ENSP00000417654:V37L	ENSP00000261034:V37L	V	+	1	0	SLC35A5	113765049	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.971000	0.49248	2.826000	0.97356	0.655000	0.94253	GTG	SLC35A5	-	pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr	ENSG00000138459		0.393	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A5	HGNC	protein_coding	OTTHUMT00000354184.1	-	0	56	0	G	NM_017945		112282359	1	tier1	-	no_errors	ENST00000492406	ensembl	human	known	74_37	missense	45.00	11	9	SNP	0.999	C	C	112282359	G	C	112282359	3	2	170	1	0	0	0	0	1	0	0	0	14619	1029	36	5	111	5	SLC35A5	3	112282359	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	41262461	112282359	85740071	60	42731											
RPN1	6184	genome.wustl.edu	37	chr3	128341048	128341048	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtcttcagcctggactGcagcagtgcaatctcactgg	7	11	10	13	0	4	0	2	0	3	0	5	1	4	1	1	2	4	3	1	2	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:128341048G>A	ENST00000296255.3	-	9	1648	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	RPN1_ENST00000497289.1_Nonsense_Mutation_p.Q362*	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	534					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)		AGCCTGGACTGCAGCAGTGCA	0.557			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													147	115	126					3																	128341048		2203	4300	6503	SO:0001587	stop_gained	0				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.1600C>T	3.37:g.128341048G>A	ENSP00000296255:p.Gln534*		B2R5Z0|D3DNB6|Q68DT1	Nonsense_Mutation	SNP	pfam_Ribophorin_I	p.Q534*	ENST00000296255.3	37	c.1600	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.870622	0.97901	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-9.839	19.2668	0.93990	0.0:0.0:1.0:0.0	.	.	.	.	X	534;362;305;508	.	ENSP00000296255:Q534X	Q	-	1	0	RPN1	129823738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.338000	0.96553	2.547000	0.85894	0.591000	0.81541	CAG	RPN1	-	NULL	ENSG00000163902		0.557	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	-	0	45	0	G	NM_002950		128341048	-1	tier1	-	no_errors	ENST00000296255	ensembl	human	known	74_37	nonsense	9.76	37	4	SNP	1.000	A	A	128341048	G	A	128341048	4	1	170	1	0	0	0	0	0	1	0	0	13652	1328	46	3	231	3	RPN1	3	128341048	Nonsense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	16058689	128341048	69681382	61	42732											
RAP2B	5912	genome.wustl.edu	37	chr3	152881013	152881013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacggcgatgagggctgctgCtcggcctgcgtgatcctctg	5	9	15	12	4	1	2	0	2	1	0	3	3	2	2	2	3	4	3	2	3	1	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:152881013C>G	ENST00000323534.2	+	1	985	c.531C>G	c.(529-531)tgC>tgG	p.C177W	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	177					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGCTGCTGCTCGGCCTGCG	0.602																																																	0													10	8	9					3																	152881013		2167	4252	6419	SO:0001583	missense	0				CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"Ras-related protein RAP-2B", "small GTP binding protein", "Ras family small GTP binding protein RAP2B"	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.531C>G	3.37:g.152881013C>G	ENSP00000319096:p.Cys177Trp		P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.C177W	ENST00000323534.2	37	c.531	CCDS3170.1	3	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631470	0.67015	.	.	ENSG00000181467	ENST00000323534	T	0.65364	-0.15	4.78	4.78	0.61160	.	0.175497	0.40554	U	0.001076	T	0.69628	0.3132	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71364	-0.4615	10	0.46703	T	0.11	.	16.4283	0.83832	0.0:1.0:0.0:0.0	.	177	P61225	RAP2B_HUMAN	W	177	ENSP00000319096:C177W	ENSP00000319096:C177W	C	+	3	2	RAP2B	154363703	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.882000	0.28186	2.209000	0.71365	0.563000	0.77884	TGC	RAP2B	-	superfamily_P-loop_NTPase	ENSG00000181467		0.602	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2B	HGNC	protein_coding	OTTHUMT00000356707.1		0	23	0	C	NM_002886		152881013	1			no_errors	ENST00000323534	ensembl	human	known	74_37	missense	9.09	19	2	SNP	1.000	G	G	152881013	C	G	152881013	3	3	170	1	0	0	0	0	1	0	0	0	13086	805	28	5	533	5	RAP2B	3	152881013	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	24539965	152881013	45141417	62	42733											
LEKR1	389170	genome.wustl.edu	37	chr3	156746172	156746172	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacaactgatagagcaatTtaaccagtcccaggaagagg	17	6	9	9	0	0	3	0	1	0	2	1	4	1	4	2	2	4	1	2	2	6	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:156746172T>A	ENST00000470811.1	+	13	2072	c.737T>A	c.(736-738)tTt>tAt	p.F246Y	LEKR1_ENST00000356539.4_Missense_Mutation_p.F550Y			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	246										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATAGAGCAATTTAACCAGTCC	0.383																																																	0													54	52	53					3																	156746172		2203	4300	6503	SO:0001583	missense	0			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.737T>A	3.37:g.156746172T>A	ENSP00000418214:p.Phe246Tyr			Missense_Mutation	SNP	superfamily_Ribosomal_L29	p.F550Y	ENST00000470811.1	37	c.1649		3	.	.	.	.	.	.	.	.	.	.	T	8.472	0.857876	0.17178	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.47177	0.86;0.85	5.48	5.48	0.80851	.	0.564700	0.17256	N	0.180978	T	0.46308	0.1386	M	0.65975	2.015	0.09310	N	1	P	0.42409	0.779	B	0.41036	0.346	T	0.44544	-0.9321	10	0.09338	T	0.73	-0.0652	13.8358	0.63408	0.0:0.0:0.0:1.0	.	246	Q6ZMV7	LEKR1_HUMAN	Y	246;550	ENSP00000418214:F246Y;ENSP00000348936:F550Y	ENSP00000348936:F550Y	F	+	2	0	LEKR1	158228866	0.547000	0.26465	0.003000	0.11579	0.537000	0.34900	4.827000	0.62723	2.081000	0.62600	0.533000	0.62120	TTT	LEKR1	-	NULL	ENSG00000197980		0.383	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	HGNC	protein_coding	OTTHUMT00000351625.3	-	0	44	0	T	NM_001004316		156746172	1	tier1	-	no_errors	ENST00000356539	ensembl	human	known	74_37	missense	28.00	18	7	SNP	0.013	A	A	156746172	T	A	156746172	3	1	170	1	0	0	0	0	1	0	0	0	8745	1841	64	5	1691	5	LEKR1	3	156746172	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	3865159	156746172	41276258	63	42734											
RFC4	5984	genome.wustl.edu	37	chr3	186507806	186507806	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagttgcacaaaggctgatGagttgcaaatgttcatcagc	13	10	10	8	0	2	2	2	2	0	0	2	2	2	2	0	1	3	6	0	1	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:186507806G>T	ENST00000392481.2	-	11	1325	c.1044C>A	c.(1042-1044)ctC>ctA	p.L348L	RFC4_ENST00000433496.1_Silent_p.L321L|RFC4_ENST00000296273.2_Silent_p.L348L|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	348					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)			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)		AAAGGCTGATGAGTTGCAAAT	0.358																																																	0													88	84	85					3																	186507806		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1044C>A	3.37:g.186507806G>T			B4DM41|D3DNV2|Q6FHX7	Silent	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.L348	ENST00000392481.2	37	c.1044	CCDS3283.1	3																																																																																			RFC4	-	pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C	ENSG00000163918		0.358	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC4	HGNC	protein_coding	OTTHUMT00000344471.1		0	15	0	G	NM_002916		186507806	-1			no_errors	ENST00000296273	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.455	T	T	186507806	G	T	186507806	2	4	170	1	0	0	0	0	0	0	0	1	13292	1277	45	3		3	RFC4	3	186507806	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	29761634	186507806	11514624	64	42735											
OPA1	4976	genome.wustl.edu	37	chr3	193409884	193409884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattcaagaaaaacttgatGctttcattgaagctcttcat	15	14	5	7	0	4	3	3	2	1	1	4	3	4	3	0	0	3	2	0	0	5	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:193409884G>A	ENST00000392438.3	+	28	3085	c.2851G>A	c.(2851-2853)Gct>Act	p.A951T	OPA1_ENST00000361715.2_Missense_Mutation_p.A970T|OPA1_ENST00000361828.2_Missense_Mutation_p.A969T|OPA1_ENST00000361150.2_Missense_Mutation_p.A952T|OPA1_ENST00000361908.3_Missense_Mutation_p.A988T|OPA1_ENST00000361510.2_Missense_Mutation_p.A1006T	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	951					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)		AAAACTTGATGCTTTCATTGA	0.269																																																	0													19	19	19					3																	193409884		2167	4258	6425	SO:0001583	missense	0			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.2851G>A	3.37:g.193409884G>A	ENSP00000376233:p.Ala951Thr		D3DNW4	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	p.A1006T	ENST00000392438.3	37	c.3016	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377615	0.61735	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.94897	-3.13;-3.14;-3.12;-3.13;-3.14;-3.55	5.13	4.2	0.49525	.	0.050505	0.85682	D	0.000000	D	0.88496	0.6452	N	0.22421	0.69	0.53005	D	0.999965	B;P;B;B;B;B;B;B	0.37466	0.146;0.596;0.006;0.146;0.026;0.146;0.09;0.02	B;B;B;B;B;B;B;B	0.32211	0.093;0.142;0.024;0.093;0.02;0.119;0.034;0.039	D	0.89934	0.4068	10	0.72032	D	0.01	-14.0853	13.4725	0.61288	0.0:0.0:0.8429:0.1571	.	915;951;933;952;969;988;970;1006	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	T	988;951;1006;970;969;952	ENSP00000354681:A988T;ENSP00000376233:A951T;ENSP00000355324:A1006T;ENSP00000355311:A970T;ENSP00000354429:A969T;ENSP00000354781:A952T	ENSP00000354781:A952T	A	+	1	0	OPA1	194892578	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.846000	0.69444	2.373000	0.80994	0.650000	0.86243	GCT	OPA1	-	NULL	ENSG00000198836		0.269	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	-	0	94	0	G	NM_130837		193409884	1	tier1	-	no_errors	ENST00000361510	ensembl	human	known	74_37	missense	21.43	99	27	SNP	1.000	A	A	193409884	G	A	193409884	3	1	170	1	0	0	0	0	1	0	0	0	10910	1319	46	3	3134	3	OPA1	3	193409884	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	6902078	193409884	4612546	65	42736											
ZDHHC19	131540	genome.wustl.edu	37	chr3	195937566	195937566	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaagagggagcctgtgatAacaggaaaggcccactcccc	14	4	11	12	0	0	2	0	1	0	1	1	4	1	4	4	3	2	0	4	3	3	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr3:195937566A>G	ENST00000296326.3	-	2	268	c.189T>C	c.(187-189)gtT>gtC	p.V63V	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	63						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		AGCCTGTGATAACAGGAAAGG	0.587																																																	0													62	70	67					3																	195937566		1987	4158	6145	SO:0001819	synonymous_variant	0			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.189T>C	3.37:g.195937566A>G			A8MSY6|B3KVI1	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.V63	ENST00000296326.3	37	c.189	CCDS43190.1	3																																																																																			ZDHHC19	-	NULL	ENSG00000163958		0.587	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	HGNC	protein_coding	OTTHUMT00000341533.1	-	0	51	0	A	NM_144637		195937566	-1	tier1	-	no_errors	ENST00000296326	ensembl	human	known	74_37	silent	11.36	39	5	SNP	0.000	G	G	195937566	A	G	195937566	2	3	170	1	0	0	0	0	0	0	0	1	17657	349	13	4		4	ZDHHC19	3	195937566	Silent	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	2527682	195937566	2084864	66	42737											
MFSD7	84179	genome.wustl.edu	37	chr4	677526	677526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccaaacgtgatgaagaGagcgccacagaggccggaaa	15	3	13	10	3	0	4	0	2	0	2	1	7	1	5	3	2	2	0	3	2	3	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr4:677526G>T	ENST00000404286.2	-	7	883	c.868C>A	c.(868-870)Ctc>Atc	p.L290I	MFSD7_ENST00000515118.1_Missense_Mutation_p.L193I|MFSD7_ENST00000503156.1_Missense_Mutation_p.L225I|MFSD7_ENST00000513740.1_5'Flank|MFSD7_ENST00000322224.4_Missense_Mutation_p.L289I|MFSD7_ENST00000347950.5_Missense_Mutation_p.L171I	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	290					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GTGATGAAGAGAGCGCCACAG	0.627											OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35	33	34					4																	677526		2190	4284	6474	SO:0001583	missense	0			AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.868C>A	4.37:g.677526G>T	ENSP00000384616:p.Leu290Ile	590	A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L290I	ENST00000404286.2	37	c.868		4	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150603	0.57151	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000512249	T;T;T;T;T;T	0.59638	0.25;0.35;0.35;0.25;0.35;0.25	4.71	4.71	0.59529	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	T	0.62756	0.2454	L	0.40543	1.245	0.38077	D	0.936569	P;D;D;P;D	0.58268	0.927;0.969;0.982;0.927;0.969	P;P;P;P;P	0.61940	0.781;0.822;0.896;0.842;0.845	T	0.60510	-0.7249	10	0.24483	T	0.36	-18.9903	13.0685	0.59046	0.0:0.0:1.0:0.0	.	225;193;171;290;289	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	I	171;289;290;193;225;107	ENSP00000307545:L171I;ENSP00000320234:L289I;ENSP00000384616:L290I;ENSP00000423204:L193I;ENSP00000425753:L225I;ENSP00000425038:L107I	ENSP00000320234:L289I	L	-	1	0	MFSD7	667526	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	4.171000	0.58236	2.460000	0.83146	0.558000	0.71614	CTC	MFSD7	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000169026		0.627	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	MFSD7	HGNC	protein_coding	OTTHUMT00000358585.1	-	0	114	0	G	NM_032219		677526	-1	tier1	-	no_errors	ENST00000404286	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.999	T	T	677526	G	T	677526	3	4	170	1	0	0	0	0	1	0	0	0	9575	942	33	3	830	3	MFSD7	4	677526	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09		677526	190476750	67	42738											
BOD1L	259282	genome.wustl.edu	37	chr4	13604639	13604639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaattacatctggatcataCgattccctcagaggcacaac	13	9	8	11	1	3	1	2	0	1	1	4	4	4	3	1	3	3	1	1	3	4	3	rs182239378	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr4:13604639C>T	ENST00000040738.5	-	10	4020	c.3885G>A	c.(3883-3885)tcG>tcA	p.S1295S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1295						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1295S(1)									CTGGATCATACGATTCCCTCA	0.458													C|||	2	0.000399361	0	0	5008	,	,		22339	0.002		0	False		,,,				2504	0																1	Substitution - coding silent(1)	prostate(1)						C		0,4406		0,0,2203	107	93	98		3885	0.5	0	4		98	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	BOD1L	NM_148894.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1295/3052	13604639	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.3885G>A	4.37:g.13604639C>T			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.S1295	ENST00000040738.5	37	c.3885	CCDS3411.2	4																																																																																			BOD1L1	-	NULL	ENSG00000038219		0.458	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1		0	45	0	C	NM_148894		13604639	-1			no_errors	ENST00000040738	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.000	T	T	13604639	C	T	13604639	2	4	170	1	0	0	0	0	0	0	0	1	1485	523	19	1		1	BOD1L	4	13604639	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	12927113	13604639	177549637	68	42739											
SLIT2	9353	genome.wustl.edu	37	chr4	20493433	20493433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttttgcactgccctgcCgcctgtacctgtagcaacaa	8	11	9	13	1	0	0	0	0	0	0	0	0	0	0	4	0	6	5	4	0	4	4	rs557268494		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr4:20493433C>T	ENST00000504154.1	+	9	1077	c.825C>T	c.(823-825)gcC>gcT	p.A275A	SLIT2_ENST00000503823.1_Silent_p.A275A|SLIT2_ENST00000273739.5_Silent_p.A279A|SLIT2_ENST00000503837.1_Silent_p.A279A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	275	LRRNT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACTGCCCTGCCGCCTGTACCT	0.418																																																	0													142	140	141					4																	20493433		2203	4300	6503	SO:0001819	synonymous_variant	0			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.825C>T	4.37:g.20493433C>T			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.A275	ENST00000504154.1	37	c.825	CCDS3426.1	4																																																																																			SLIT2	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000145147		0.418	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0	53	0	C			20493433	1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	silent	28.95	54	22	SNP	0.608	T	T	20493433	C	T	20493433	2	4	170	1	0	0	0	0	0	0	0	1	14785	639	23	1		1	SLIT2	4	20493433	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	6888794	20493433	170660843	69	42740											
N4BP2	55728	genome.wustl.edu	37	chr4	40098975	40098975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcagaatgccaaggagaagGaaaaatcttgggggaaatcc	16	6	13	6	0	2	2	1	0	1	2	3	5	3	4	2	4	1	0	2	4	6	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr4:40098975G>T	ENST00000261435.6	+	3	431	c.15G>T	c.(13-15)agG>agT	p.R5S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	5					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						CAAGGAGAAGGAAAAATCTTG	0.383																																																	0													99	100	100					4																	40098975		2203	4300	6503	SO:0001583	missense	0			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.15G>T	4.37:g.40098975G>T	ENSP00000261435:p.Arg5Ser		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.R5S	ENST00000261435.6	37	c.15	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944025	0.53079	.	.	ENSG00000078177	ENST00000261435	T	0.26518	1.73	5.09	4.24	0.50183	.	0.324112	0.22559	N	0.058499	T	0.15955	0.0384	N	0.14661	0.345	0.28465	N	0.915676	P	0.50443	0.935	B	0.42245	0.381	T	0.04373	-1.0956	10	0.87932	D	0	.	9.6283	0.39763	0.1597:0.0:0.8403:0.0	.	5	Q86UW6	N4BP2_HUMAN	S	5	ENSP00000261435:R5S	ENSP00000261435:R5S	R	+	3	2	N4BP2	39775370	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.357000	0.52277	1.128000	0.42052	0.655000	0.94253	AGG	N4BP2	-	NULL	ENSG00000078177		0.383	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	-	0	79	0	G	NM_018177		40098975	1	tier1	-	no_errors	ENST00000261435	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	T	T	40098975	G	T	40098975	3	4	170	1	0	0	0	0	1	0	0	0	10148	1165	41	3	17	3	N4BP2	4	40098975	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	19605542	40098975	151055301	70	42741											
GABRG1	2565	genome.wustl.edu	37	chr4	46086016	46086016	+	Missense_Mutation	SNP	T	T	C	0	1	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	tacttaccatattaattggaTcaactggtccaatgctgttt	11	16	6	8	0	1	0	1	0	0	0	2	1	2	1	2	2	4	2	2	2	6	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr4:46086016T>C	ENST00000295452.4	-	3	475	c.308A>G	c.(307-309)gAt>gGt	p.D103G		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	103					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)	ATTAATTGGATCAACTGGTCC	0.318																																																	0													43	41	41					4																	46086016		2196	4288	6484	SO:0001583	missense	0			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.308A>G	4.37:g.46086016T>C	ENSP00000295452:p.Asp103Gly		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D103G	ENST00000295452.4	37	c.308	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935057	0.52866	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.80393	-1.37	4.83	4.83	0.62350	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.82618	0.5076	M	0.75085	2.285	0.47407	D	0.999411	P	0.36837	0.571	B	0.42959	0.403	D	0.84888	0.0835	10	0.87932	D	0	.	12.3969	0.55391	0.0:0.0:0.0:1.0	.	103	Q8N1C3	GBRG1_HUMAN	G	103	ENSP00000295452:D103G	ENSP00000295452:D103G	D	-	2	0	GABRG1	45780773	1.000000	0.71417	0.999000	0.59377	0.855000	0.48748	5.983000	0.70540	2.029000	0.59856	0.460000	0.39030	GAT	GABRG1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000163285		0.318	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	-	0	68	0	T	NM_173536		46086016	-1	tier1	-	no_errors	ENST00000295452	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	C	C	46086016	T	C	46086016	3	2	170	1	0	0	0	0	1	0	0	0	6195	1435	50	4	1117	4	GABRG1	4	46086016	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	5987041	46086016	145068260	71	42742											
GRSF1	2926	genome.wustl.edu	37	chr4	71691058	71691058	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcaacagcatcctcatGggtctcaaagtgcacatcag	11	8	9	13	1	3	0	3	0	1	0	5	0	4	0	1	1	4	4	1	1	2	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr4:71691058G>C	ENST00000254799.6	-	8	1465	c.1348C>G	c.(1348-1350)Cat>Gat	p.H450D	GRSF1_ENST00000502323.1_Missense_Mutation_p.H288D|GRSF1_ENST00000545193.1_Missense_Mutation_p.H332D|GRSF1_ENST00000439371.1_Missense_Mutation_p.H288D|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	450	RRM 3. {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)			GCATCCTCATGGGTCTCAAAG	0.473																																																	0													75	75	75					4																	71691058		2021	4194	6215	SO:0001583	missense	0			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.1348C>G	4.37:g.71691058G>C	ENSP00000254799:p.His450Asp		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H450D	ENST00000254799.6	37	c.1348	CCDS47069.1	4	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586492	0.66105	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	5.97	5.97	0.96955	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.045581	0.85682	D	0.000000	T	0.23094	0.0558	L	0.49640	1.575	0.58432	D	0.999999	D;D	0.57571	0.98;0.98	D;P	0.66979	0.948;0.898	T	0.00012	-1.2430	10	0.52906	T	0.07	-4.4152	15.5488	0.76129	0.0676:0.0:0.9324:0.0	.	363;450	B7Z5F9;Q12849	.;GRSF1_HUMAN	D	450;288;382;423;288;332	ENSP00000254799:H450D;ENSP00000389219:H288D;ENSP00000427354:H423D;ENSP00000425430:H288D;ENSP00000443380:H332D	ENSP00000254799:H450D	H	-	1	0	GRSF1	71909922	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.721000	0.84768	2.828000	0.97474	0.655000	0.94253	CAT	GRSF1	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000132463		0.473	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GRSF1	HGNC	protein_coding	OTTHUMT00000362642.1		0	45	0	G	NM_002092		71691058	-1			no_errors	ENST00000254799	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	C	C	71691058	G	C	71691058	3	2	170	1	0	0	0	0	1	0	0	0	6836	1348	47	5	102	5	GRSF1	4	71691058	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	25605042	71691058	119463218	72	42743											
IBSP	3381	genome.wustl.edu	37	chr4	88723869	88723869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttttatcctcatttaaaaCgatttccagttcaggtaaat	13	16	4	8	1	2	0	2	0	0	0	4	1	4	0	2	1	1	2	2	1	5	7			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr4:88723869C>G	ENST00000226284.5	+	4	236	c.169C>G	c.(169-171)Cga>Gga	p.R57G		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	57					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TCATTTAAAACGATTTCCAGT	0.254																																																	0													41	41	41					4																	88723869		2198	4285	6483	SO:0001583	missense	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.169C>G	4.37:g.88723869C>G	ENSP00000226284:p.Arg57Gly			Missense_Mutation	SNP	pfam_BSP_II	p.R57G	ENST00000226284.5	37	c.169	CCDS3624.1	4	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480372	0.63849	.	.	ENSG00000029559	ENST00000226284	T	0.21361	2.01	5.58	5.58	0.84498	.	0.000000	0.56097	D	0.000035	T	0.48519	0.1504	M	0.79475	2.455	0.45554	D	0.998506	D	0.89917	1.0	D	0.91635	0.999	T	0.49781	-0.8903	10	0.87932	D	0	.	15.0748	0.72069	0.0:1.0:0.0:0.0	.	57	P21815	SIAL_HUMAN	G	57	ENSP00000226284:R57G	ENSP00000226284:R57G	R	+	1	2	IBSP	88942893	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	1.175000	0.31944	2.631000	0.89168	0.467000	0.42956	CGA	IBSP	-	pfam_BSP_II	ENSG00000029559		0.254	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2	-	0	49	0	C			88723869	1	tier1	-	no_errors	ENST00000226284	ensembl	human	known	74_37	missense	16.33	41	8	SNP	1.000	G	G	88723869	C	G	88723869	3	3	170	1	0	0	0	0	1	0	0	0	7502	528	19	5	179	5	IBSP	4	88723869	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	17032811	88723869	102430407	73	42744											
BMPR1B	658	genome.wustl.edu	37	chr4	96035919	96035919	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gaagaggatgactctgggttGcctgtggtcacttctggttg	6	13	15	7	0	3	2	1	1	2	1	3	4	3	3	1	4	1	2	1	4	1	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr4:96035919G>T	ENST00000515059.1	+	5	475	c.192G>T	c.(190-192)ttG>ttT	p.L64F	BMPR1B_ENST00000394931.1_Missense_Mutation_p.L64F|BMPR1B_ENST00000440890.2_Missense_Mutation_p.L94F|BMPR1B_ENST00000502683.1_Missense_Mutation_p.L64F|BMPR1B_ENST00000264568.4_Missense_Mutation_p.L64F	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	64					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ACTCTGGGTTGCCTGTGGTCA	0.433																																																	0													335	308	317					4																	96035919		2203	4300	6503	SO:0001583	missense	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.192G>T	4.37:g.96035919G>T	ENSP00000426617:p.Leu64Phe		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.L94F	ENST00000515059.1	37	c.282	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.506308	0.00992	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000502683;ENST00000264568;ENST00000394931	D;D;D;D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52;-4.52;-4.52;-4.52	5.82	2.22	0.28083	TGF-beta receptor/activin receptor, type I/II (1);	0.620127	0.17857	N	0.159661	D	0.93575	0.7949	L	0.34521	1.04	0.09310	N	0.999996	B	0.20671	0.047	B	0.31337	0.128	D	0.83450	0.0048	10	0.11485	T	0.65	.	5.5273	0.16964	0.3526:0.0:0.5238:0.1236	.	64	O00238	BMR1B_HUMAN	F	64;64;64;64;94;64;64;64	ENSP00000426617:L64F;ENSP00000421144:L64F;ENSP00000425444:L64F;ENSP00000421671:L64F;ENSP00000401907:L94F;ENSP00000424693:L64F;ENSP00000264568:L64F;ENSP00000378389:L64F	ENSP00000264568:L64F	L	+	3	2	BMPR1B	96254942	1.000000	0.71417	0.779000	0.31741	0.001000	0.01503	0.668000	0.25127	0.183000	0.20059	-0.162000	0.13425	TTG	BMPR1B	-	pfam_Activin_rcpt	ENSG00000138696		0.433	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3		0	56	0	G	NM_001203		96035919	1			no_errors	ENST00000440890	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.187	T	T	96035919	G	T	96035919	3	4	170	1	0	0	0	0	1	0	0	0	1472	1310	46	3	198	3	BMPR1B	4	96035919	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	7312050	96035919	95118357	74	42745											
PPP3CA	5530	genome.wustl.edu	37	chr4	101947132	101947132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggcatggcatctctgcGaggcggcatcctctcattaa	9	9	12	11	2	2	1	1	0	2	1	5	2	3	1	1	4	1	3	1	4	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr4:101947132G>T	ENST00000394854.3	-	14	2139	c.1456C>A	c.(1456-1458)Cgc>Agc	p.R486S	PPP3CA_ENST00000512215.1_Missense_Mutation_p.R254S|PPP3CA_ENST00000323055.6_Missense_Mutation_p.R434S|PPP3CA_ENST00000523694.2_Missense_Mutation_p.R419S|PPP3CA_ENST00000394853.4_Missense_Mutation_p.R476S|PPP3CA_ENST00000507176.1_Missense_Mutation_p.R388S	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	486	Inhibitory domain.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCATCTCTGCGAGGCGGCATC	0.483																																																	0													213	202	206					4																	101947132		2203	4300	6503	SO:0001583	missense	0				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1456C>A	4.37:g.101947132G>T	ENSP00000378323:p.Arg486Ser		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.R486S	ENST00000394854.3	37	c.1456	CCDS34037.1	4	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423828	0.43020	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.48522	0.81;2.44;2.55;2.55;2.18;2.45	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	N	0.19112	0.55	0.80722	D	1	D;P;P;B;P;P	0.69078	0.997;0.766;0.666;0.078;0.645;0.645	P;P;B;B;B;B	0.59703	0.862;0.689;0.298;0.15;0.326;0.326	T	0.29971	-0.9994	10	0.10377	T	0.69	-8.6928	20.0473	0.97613	0.0:0.0:1.0:0.0	.	486;254;434;476;388;419	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	S	254;486;434;476;388;419	ENSP00000422781:R254S;ENSP00000378323:R486S;ENSP00000320580:R434S;ENSP00000378322:R476S;ENSP00000422990:R388S;ENSP00000429350:R419S	ENSP00000320580:R434S	R	-	1	0	PPP3CA	102166155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.502000	0.97981	2.722000	0.93159	0.655000	0.94253	CGC	PPP3CA	-	NULL	ENSG00000138814		0.483	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPP3CA	HGNC	protein_coding	OTTHUMT00000258379.2		0	74	0	G	NM_000944		101947132	-1			no_errors	ENST00000394854	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	101947132	G	T	101947132	3	4	170	1	0	0	0	0	1	0	0	0	12439	1058	37	2	113	2	PPP3CA	4	101947132	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	5911213	101947132	89207144	75	42746											
MAML3	55534	genome.wustl.edu	37	chr4	140651587	140651587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgttccgccaaaatctGctgctgctgctgctgctgct	5	13	9	14	1	1	0	0	0	1	0	2	0	2	0	3	0	8	8	3	0	3	2	rs201995024|rs397746874|rs5862430|rs397881377|rs3051167	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr4:140651587G>T	ENST00000509479.2	-	3	3170	c.2314C>A	c.(2314-2316)Cag>Aag	p.Q772K	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)									p.Q772delQ(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCCAAAATctgctgctgctgc	0.537																																																	2	Deletion - In frame(2)	breast(2)											3	3	3					4																	140651587		1812	3413	5225	SO:0001583	missense	0			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.2314C>A	4.37:g.140651587G>T	ENSP00000421180:p.Gln772Lys			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q772K	ENST00000509479.2	37	c.2314	CCDS54805.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.683|1.683	-0.505885|-0.505885	0.04261|0.04261	.|.	.|.	ENSG00000196782|ENSG00000196782	ENST00000509479;ENST00000538400|ENST00000502696	T|.	0.21734|.	1.99|.	3.36|3.36	3.36|3.36	0.38483|0.38483	.|.	0.571166|.	0.13309|.	U|.	0.397666|.	T|T	0.39911|0.39911	0.1096|0.1096	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	B;B|.	0.15473|.	0.013;0.013|.	B;B|.	0.11329|.	0.006;0.006|.	T|T	0.16541|0.16541	-1.0399|-1.0399	10|5	0.07644|.	T|.	0.81|.	.|.	10.6608|10.6608	0.45702|0.45702	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	772;768|.	E7EVW8;Q96JK9|.	.;MAML3_HUMAN|.	K|R	772;79|115	ENSP00000421180:Q772K|.	ENSP00000421180:Q772K|.	Q|S	-|-	1|3	0|2	MAML3|MAML3	140871037|140871037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.139000|2.139000	0.42149|0.42149	1.616000|1.616000	0.50265|0.50265	0.480000|0.480000	0.44947|0.44947	CAG|AGC	MAML3	-	NULL	ENSG00000196782		0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2		0	10	0	G			140651587	-1			no_errors	ENST00000509479	ensembl	human	known	74_37	missense	30.00	14	6	SNP	1.000	T	T	140651587	G	T	140651587	3	4	170	1	0	0	0	0	1	0	0	0	9245	1328	46	3	1114	3	MAML3	4	140651587	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	38704455	140651587	50502689	76	42747											
SLC10A7	84068	genome.wustl.edu	37	chr4	147363928	147363928	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagacaagttaaactatgttTacttaccaaaaaacttccaa	18	12	3	8	0	0	1	0	0	0	1	1	1	1	1	2	0	4	2	2	0	11	7			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr4:147363928T>C	ENST00000507030.1	-	5	435				SLC10A7_ENST00000511374.1_3'UTR|SLC10A7_ENST00000394059.4_Missense_Mutation_p.K148E|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000394062.3_Intron|SLC10A7_ENST00000335472.7_Intron|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000432059.2_Intron			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7						sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAACTATGTTTACTTACCAAA	0.274																																																	0													47	46	47					4																	147363928		2197	4288	6485	SO:0001627	intron_variant	0			AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"Solute carriers"	23088	protein-coding gene	gene with protein product		611459	"chromosome 4 open reading frame 13"	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.435+6A>G	4.37:g.147363928T>C			A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	NULL	p.K148E	ENST00000507030.1	37	c.442	CCDS34073.1	4	.	.	.	.	.	.	.	.	.	.	T	9.221	1.033359	0.19590	.	.	ENSG00000120519	ENST00000394059	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	T	0.53997	0.1831	.	.	.	0.80722	D	1	B	0.13145	0.007	B	0.16289	0.015	T	0.54207	-0.8328	7	0.87932	D	0	.	10.2178	0.43179	0.2553:0.0:0.0:0.7447	.	148	Q0GE19-5	.	E	148	.	ENSP00000377623:K148E	K	-	1	0	SLC10A7	147583378	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	2.875000	0.48491	2.283000	0.76528	0.477000	0.44152	AAA	SLC10A7	-	NULL	ENSG00000120519		0.274	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	SLC10A7	HGNC	protein_coding	OTTHUMT00000366932.1	-	0	95	0	T	NM_032128		147363928	-1	tier1	-	no_errors	ENST00000394059	ensembl	human	known	74_37	missense	11.86	52	7	SNP	0.918	C	C	147363928	T	C	147363928	1	2	170	0	1	0	0	0	0	0	0	0	14424	1763	61	4		4	SLC10A7	4	147363928	Intron	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	6712341	147363928	43790348	77	42748											
LRBA	987	genome.wustl.edu	37	chr4	151682999	151682999	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgaatagaattttgccactCctataaaaaaaaaagcaaaa	21	9	4	7	0	0	2	0	1	0	1	1	2	1	2	2	0	2	1	2	0	11	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr4:151682999C>G	ENST00000357115.3	-	35	5824	c.5581G>C	c.(5581-5583)Gag>Cag	p.E1861Q	LRBA_ENST00000507224.1_Splice_Site_p.E1861Q|LRBA_ENST00000535741.1_Splice_Site_p.E1861Q|LRBA_ENST00000510413.1_Splice_Site_p.E1861Q	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1861						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)					TTTTGCCACTCCTATAAAAAA	0.274																																																	0													45	53	51					4																	151682999		2199	4274	6473	SO:0001630	splice_region_variant	0			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.5581-1G>C	4.37:g.151682999C>G			Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.E1861Q	ENST00000357115.3	37	c.5581	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.456858|4.456858	0.84317|0.84317	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.71817|.	-0.11;0.04;-0.09;-0.6|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82056|0.82056	0.4954|0.4954	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.87578|.	0.994;0.998|.	D|D	0.83753|0.83753	0.0210|0.0210	10|5	0.72032|.	D|.	0.01|.	.|.	18.5067|18.5067	0.90900|0.90900	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1861;1861|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	Q|S	1861|513	ENSP00000446299:E1861Q;ENSP00000421552:E1861Q;ENSP00000349629:E1861Q;ENSP00000422180:E1861Q|.	ENSP00000349629:E1861Q|.	E|R	-|-	1|3	0|2	LRBA|LRBA	151902449|151902449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	7.128000|7.128000	0.77217|0.77217	2.352000|2.352000	0.79861|0.79861	0.655000|0.655000	0.94253|0.94253	GAG|AGG	LRBA	-	NULL	ENSG00000198589		0.274	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0	85	0	C		Missense_Mutation	151682999	-1	tier1	-	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	72.37	20	55	SNP	1.000	G	G	151682999	C	G	151682999	5	3	170	1	0	0	0	0	0	0	1	0	8966	869	30	5	3106	5	LRBA	4	151682999	Splice_Site	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	4319071	151682999	39471277	78	42749											
SEMA5A	9037	genome.wustl.edu	37	chr5	9066719	9066719	+	Nonsense_Mutation	SNP	T	T	A	0	1	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	tgtccagggcgtggtcttctTcagctcaggacacgggttgg	5	11	15	10	2	4	0	2	0	2	0	5	1	5	1	1	5	1	2	1	5	0	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:9066719T>A	ENST00000382496.5	-	17	2778	c.2113A>T	c.(2113-2115)Aag>Tag	p.K705*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	705					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTGGTCTTCTTCAGCTCAGGA	0.562																																																	0													157	145	149					5																	9066719		2203	4300	6503	SO:0001587	stop_gained	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2113A>T	5.37:g.9066719T>A	ENSP00000371936:p.Lys705*		D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.K705*	ENST00000382496.5	37	c.2113	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	T	46	12.379717	0.99662	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0141	0.42003	0.0:0.0:0.1696:0.8304	.	.	.	.	X	705	.	ENSP00000371936:K705X	K	-	1	0	SEMA5A	9119719	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.691000	0.61738	2.228000	0.72767	0.482000	0.46254	AAG	SEMA5A	-	NULL	ENSG00000112902		0.562	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	-	0	40	0	T			9066719	-1	tier1	-	no_errors	ENST00000382496	ensembl	human	known	74_37	nonsense	58.62	23	34	SNP	1.000	A	A	9066719	T	A	9066719	4	1	170	1	0	0	0	0	0	1	0	0	14082	1792	62	5	1139	5	SEMA5A	5	9066719	Nonsense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09		9066719	171848541	79	42750											
CDH10	1008	genome.wustl.edu	37	chr5	24491686	24491686	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttaaggtttcttaccCagtagaatgatgatgcagag	11	15	10	5	0	1	4	0	2	1	2	1	4	1	4	1	1	2	4	1	1	4	6	rs184571175	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:24491686C>G	ENST00000264463.4	-	11	2382	c.1875G>C	c.(1873-1875)ctG>ctC	p.L625L	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	625					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L625L(1)		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)		GTTTCTTACCCAGTAGAATGA	0.483										HNSCC(23;0.051)																																							1	Substitution - coding silent(1)	lung(1)											69	69	69					5																	24491686		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1876+1G>C	5.37:g.24491686C>G			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L625	ENST00000264463.4	37	c.1875	CCDS3892.1	5																																																																																			CDH10	-	NULL	ENSG00000040731		0.483	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0	46	0	C	NM_006727	Silent	24491686	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	silent	22.58	24	7	SNP	0.948	G	G	24491686	C	G	24491686	5	3	170	1	0	0	0	0	0	0	1	0	3103	608	21	5	499	5	CDH10	5	24491686	Splice_Site	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	15424967	24491686	156423574	80	42751											
RICTOR	253260	genome.wustl.edu	37	chr5	38991089	38991089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcatgctcggaccattCtgtctctttcttgaagtcca	8	14	7	12	1	3	1	0	1	3	0	6	2	4	2	2	1	2	2	2	1	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:38991089C>A	ENST00000357387.3	-	7	575	c.545G>T	c.(544-546)aGa>aTa	p.R182I	RICTOR_ENST00000296782.5_Missense_Mutation_p.R182I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCGGACCATTCTGTCTCTTTC	0.348																																																	0													105	93	97					5																	38991089		2203	4299	6502	SO:0001583	missense	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.545G>T	5.37:g.38991089C>A	ENSP00000349959:p.Arg182Ile			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R182I	ENST00000357387.3	37	c.545	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.123160	0.94429	.	.	ENSG00000164327	ENST00000357387;ENST00000296782;ENST00000514735	T;T;T	0.63744	-0.06;-0.06;-0.06	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80571	0.4648	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;0.997	D;D;D;D	0.91635	0.996;0.999;0.979;0.994	T	0.83273	-0.0042	10	0.87932	D	0	-17.057	18.6644	0.91483	0.0:1.0:0.0:0.0	.	182;182;182;182	Q8N6M7;E7ETT0;Q6R327;Q6R327-3	.;.;RICTR_HUMAN;.	I	182;182;166	ENSP00000349959:R182I;ENSP00000296782:R182I;ENSP00000423162:R166I	ENSP00000296782:R182I	R	-	2	0	RICTOR	39026846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.731000	0.68554	2.394000	0.81467	0.591000	0.81541	AGA	RICTOR	-	superfamily_ARM-type_fold	ENSG00000164327		0.348	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	-	0	88	0	C	NM_152756		38991089	-1	tier1	-	no_errors	ENST00000296782	ensembl	human	known	74_37	missense	49.30	36	35	SNP	1.000	A	A	38991089	C	A	38991089	3	1	170	1	0	0	0	0	1	0	0	0	13403	913	32	3	4709	3	RICTOR	5	38991089	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	14499403	38991089	141924171	81	42752											
CARD6	84674	genome.wustl.edu	37	chr5	40853632	40853632	+	Missense_Mutation	SNP	T	T	A	0	1	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	tgttctagagaactcctggcTctttccaaccagaattggag	10	12	9	10	0	2	2	0	0	2	2	4	4	4	3	3	2	2	2	3	2	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:40853632T>A	ENST00000254691.5	+	3	2397	c.2198T>A	c.(2197-2199)cTc>cAc	p.L733H	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	733					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						AACTCCTGGCTCTTTCCAACC	0.498																																																	0													182	193	189					5																	40853632		2203	4300	6503	SO:0001583	missense	0			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.2198T>A	5.37:g.40853632T>A	ENSP00000254691:p.Leu733His		Q52LR2	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD	p.L733H	ENST00000254691.5	37	c.2198	CCDS3935.1	5	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612547	0.28712	.	.	ENSG00000132357	ENST00000254691	T	0.12569	2.67	4.8	1.92	0.25849	.	0.399284	0.21647	N	0.071249	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28681	-1.0036	10	0.72032	D	0.01	-2.9985	3.6529	0.08210	0.1731:0.5471:0.0:0.2797	.	733	Q9BX69	CARD6_HUMAN	H	733	ENSP00000254691:L733H	ENSP00000254691:L733H	L	+	2	0	CARD6	40889389	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.085000	0.14912	0.639000	0.30564	-0.232000	0.12228	CTC	CARD6	-	NULL	ENSG00000132357		0.498	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3	-	0	47	0	T			40853632	1	tier1	-	no_errors	ENST00000254691	ensembl	human	known	74_37	missense	18.75	26	6	SNP	0.001	A	A	40853632	T	A	40853632	3	1	170	1	0	0	0	0	1	0	0	0	2657	1551	54	5	2208	5	CARD6	5	40853632	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	1862543	40853632	140061628	82	42753											
C6	729	genome.wustl.edu	37	chr5	41186174	41186174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgctaggctgtcatacctCaaagccgacattttccagat	11	11	7	12	1	2	1	2	0	0	1	3	2	3	1	3	1	3	2	3	1	3	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:41186174C>G	ENST00000263413.3	-	6	988	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	C6_ENST00000337836.5_Missense_Mutation_p.E242Q|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	242	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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.E242Q(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)				TGTCATACCTCAAAGCCGACA	0.408																																																	1	Substitution - Missense(1)	lung(1)											126	113	117					5																	41186174		2203	4300	6503	SO:0001583	missense	0			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.724G>C	5.37:g.41186174C>G	ENSP00000263413:p.Glu242Gln			Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.E242Q	ENST00000263413.3	37	c.724	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	7.676	0.688053	0.14973	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60171	0.21;0.21	5.99	3.07	0.35406	Membrane attack complex component/perforin (MACPF) domain (1);	0.250304	0.47093	N	0.000250	T	0.34250	0.0891	N	0.20766	0.605	0.34647	D	0.721204	B	0.29481	0.245	B	0.20955	0.032	T	0.35895	-0.9770	10	0.19590	T	0.45	-18.7605	7.5386	0.27725	0.0:0.4447:0.4009:0.1544	.	242	P13671	CO6_HUMAN	Q	242	ENSP00000338861:E242Q;ENSP00000263413:E242Q	ENSP00000263413:E242Q	E	-	1	0	C6	41221931	1.000000	0.71417	0.999000	0.59377	0.534000	0.34807	1.344000	0.33941	0.837000	0.34925	0.655000	0.94253	GAG	C6	-	NULL	ENSG00000039537		0.408	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	-	0	55	0	C			41186174	-1	tier1	-	no_errors	ENST00000263413	ensembl	human	known	74_37	missense	17.07	34	7	SNP	1.000	G	G	41186174	C	G	41186174	3	3	170	1	0	0	0	0	1	0	0	0	2322	835	29	5	2132	5	C6	5	41186174	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	332542	41186174	139729086	83	42754											
MAP3K1	4214	genome.wustl.edu	37	chr5	56161771	56161771	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattctcatacattgtcatCatctagtacttctacgtcta	12	16	3	10	1	6	0	3	0	4	0	7	0	6	0	0	0	3	1	0	0	6	8			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:56161771C>A	ENST00000399503.3	+	6	1268	c.1268C>A	c.(1267-1269)tCa>tAa	p.S423*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	423	Poly-Ser.				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)	p.S260*(1)		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)		ACATTGTCATCATCTAGTACT	0.348																																																	1	Substitution - Nonsense(1)	large_intestine(1)											97	93	94					5																	56161771		1880	4110	5990	SO:0001587	stop_gained	0			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.1268C>A	5.37:g.56161771C>A	ENSP00000382423:p.Ser423*			Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.S423*	ENST00000399503.3	37	c.1268	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.418626	0.97550	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.72	5.72	0.89469	.	0.083491	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	.	.	.	X	423	.	ENSP00000382423:S423X	S	+	2	0	MAP3K1	56197528	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.421000	0.73353	2.695000	0.91970	0.650000	0.86243	TCA	MAP3K1	-	NULL	ENSG00000095015		0.348	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2		0	51	0	C	XM_042066		56161771	1			no_errors	ENST00000399503	ensembl	human	novel	74_37	nonsense	5.00	38	2	SNP	1.000	A	A	56161771	C	A	56161771	4	1	170	1	0	0	0	0	0	1	0	0	9281	838	29	3	1290	3	MAP3K1	5	56161771	Nonsense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	14975597	56161771	124753489	84	42755											
MAP3K1	4214	genome.wustl.edu	37	chr5	56179413	56179413	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgtatagagaagacactgaAtggctgaaaggtcaacagat	16	7	11	7	1	1	5	1	2	0	3	1	6	1	5	1	2	1	2	1	2	6	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:56179413A>G	ENST00000399503.3	+	15	3726	c.3726A>G	c.(3724-3726)gaA>gaG	p.E1242E		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1242					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)		AAGACACTGAATGGCTGAAAG	0.393																																																	0													165	159	161					5																	56179413		1877	4094	5971	SO:0001819	synonymous_variant	0			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.3726A>G	5.37:g.56179413A>G				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.E1242	ENST00000399503.3	37	c.3726	CCDS43318.1	5																																																																																			MAP3K1	-	superfamily_Kinase-like_dom	ENSG00000095015		0.393	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	-	0	118	0	A	XM_042066		56179413	1	tier1	-	no_errors	ENST00000399503	ensembl	human	novel	74_37	silent	48.39	32	30	SNP	0.952	G	G	56179413	A	G	56179413	2	3	170	1	0	0	0	0	0	0	0	1	9281	98	4	4		4	MAP3K1	5	56179413	Silent	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	17642	56179413	124735847	85	42756											
RAB3C	115827	genome.wustl.edu	37	chr5	58147162	58147162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aactcctcctccaccgcagcCcaactgtgcctgctagtgtc	7	9	7	18	1	0	0	0	0	0	0	4	0	3	0	6	0	5	2	6	0	3	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:58147162C>A	ENST00000282878.4	+	5	837	c.668C>A	c.(667-669)cCc>cAc	p.P223H	CTD-2176I21.2_ENST00000510198.1_RNA	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	223					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CCACCGCAGCCCAACTGTGCC	0.507																																																	0													89	77	81					5																	58147162		2203	4300	6503	SO:0001583	missense	0			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"RAB, member RAS oncogene"	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.668C>A	5.37:g.58147162C>A	ENSP00000282878:p.Pro223His			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P223H	ENST00000282878.4	37	c.668	CCDS3976.1	5	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336551	0.60963	.	.	ENSG00000152932	ENST00000282878	T	0.63913	-0.07	5.75	5.75	0.90469	.	0.246616	0.21356	N	0.075896	T	0.54013	0.1832	N	0.22421	0.69	0.51482	D	0.999923	B	0.29162	0.235	B	0.29598	0.104	T	0.54337	-0.8309	10	0.66056	D	0.02	-9.784	19.9522	0.97203	0.0:1.0:0.0:0.0	.	223	Q96E17	RAB3C_HUMAN	H	223	ENSP00000282878:P223H	ENSP00000282878:P223H	P	+	2	0	RAB3C	58182919	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.582000	0.60957	2.725000	0.93324	0.655000	0.94253	CCC	RAB3C	-	superfamily_P-loop_NTPase,smart_Ran_GTPase	ENSG00000152932		0.507	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3C	HGNC	protein_coding	OTTHUMT00000214156.2	-	0	67	0	C	NM_138453		58147162	1	tier1	-	no_errors	ENST00000282878	ensembl	human	known	74_37	missense	30.19	37	16	SNP	1.000	A	A	58147162	C	A	58147162	3	1	170	1	0	0	0	0	1	0	0	0	12978	623	22	3	686	3	RAB3C	5	58147162	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	1967749	58147162	122768098	86	42757											
TRIM36	55521	genome.wustl.edu	37	chr5	114462496	114462496	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agtaactaaggtaaatggttGtgaagaatcaaaacaggcat	18	9	10	4	0	1	2	1	1	0	1	1	2	1	2	0	3	2	4	0	3	8	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:114462496G>T	ENST00000282369.3	-	10	2012	c.1891C>A	c.(1891-1893)Caa>Aaa	p.Q631K	TRIM36_ENST00000513154.1_Missense_Mutation_p.Q619K|TRIM36_ENST00000514154.1_Missense_Mutation_p.Q476K	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	631	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)		GTAAATGGTTGTGAAGAATCA	0.378																																																	0													91	91	91					5																	114462496		2202	4300	6502	SO:0001583	missense	0			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.1891C>A	5.37:g.114462496G>T	ENSP00000282369:p.Gln631Lys		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q631K	ENST00000282369.3	37	c.1891	CCDS4115.1	5	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408575	0.83340	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.59083	0.29;0.29;0.29	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.061993	0.64402	D	0.000003	T	0.66426	0.2788	L	0.53249	1.67	0.80722	D	1	D;P	0.63880	0.993;0.881	P;P	0.60609	0.877;0.855	T	0.59910	-0.7365	10	0.05620	T	0.96	.	19.4818	0.95013	0.0:0.0:1.0:0.0	.	619;631	E9PFI8;Q9NQ86	.;TRI36_HUMAN	K	631;619;476	ENSP00000282369:Q631K;ENSP00000423934:Q619K;ENSP00000424259:Q476K	ENSP00000282369:Q631K	Q	-	1	0	TRIM36	114490395	1.000000	0.71417	0.966000	0.40874	0.941000	0.58515	7.379000	0.79691	2.658000	0.90341	0.591000	0.81541	CAA	TRIM36	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000152503		0.378	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2	-	0	33	0	G	NM_018700		114462496	-1	tier1	-	no_errors	ENST00000282369	ensembl	human	known	74_37	missense	35.71	9	5	SNP	1.000	T	T	114462496	G	T	114462496	3	4	170	1	0	0	0	0	1	0	0	0	16558	1386	48	3	299	3	TRIM36	5	114462496	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	56315334	114462496	66452764	87	42758											
PKD2L2	27039	genome.wustl.edu	37	chr5	137260764	137260764	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgagaaattcagactgaaGaaagctcaaaaagatgaaga	20	6	9	6	1	2	7	2	2	0	5	3	8	2	7	0	0	1	1	0	0	6	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:137260764G>A	ENST00000508883.1	+	11	1613	c.1587G>A	c.(1585-1587)aaG>aaA	p.K529K	PKD2L2_ENST00000350250.4_Silent_p.K495K|PKD2L2_ENST00000508638.1_Silent_p.K428K|PKD2L2_ENST00000290431.5_Silent_p.K529K|PKD2L2_ENST00000502810.1_Silent_p.K507K			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	529					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)			TCAGACTGAAGAAAGCTCAAA	0.279																																																	0													63	62	62					5																	137260764		1801	4075	5876	SO:0001819	synonymous_variant	0			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.1587G>A	5.37:g.137260764G>A			A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	p.K529	ENST00000508883.1	37	c.1587		5																																																																																			PKD2L2	-	prints_PKD_2	ENSG00000078795		0.279	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	PKD2L2	HGNC	protein_coding	OTTHUMT00000372521.1	-	0	96	0	G	NM_014386		137260764	1	tier1	-	no_errors	ENST00000508883	ensembl	human	known	74_37	silent	12.07	51	7	SNP	1.000	A	A	137260764	G	A	137260764	2	1	170	1	0	0	0	0	0	0	0	1	12007	933	33	3		3	PKD2L2	5	137260764	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	22798268	137260764	43654496	88	42759											
C1QTNF2	114898	genome.wustl.edu	37	chr5	159776483	159776483	+	Missense_Mutation	SNP	T	T	C	0	1	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	gccgcagacgaacttgccgcTggaagcattgtagtggccac	9	7	13	12	3	0	1	0	0	0	1	0	3	0	2	3	2	3	4	3	2	3	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:159776483T>C	ENST00000393975.3	-	3	688	c.685A>G	c.(685-687)Agc>Ggc	p.S229G		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	184	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTTGCCGCTGGAAGCATTG	0.582																																																	0													89	99	96					5																	159776483		2203	4300	6503	SO:0001583	missense	0			AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.685A>G	5.37:g.159776483T>C	ENSP00000377545:p.Ser229Gly			Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.S229G	ENST00000393975.3	37	c.685	CCDS4351.2	5	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865557	0.71949	.	.	ENSG00000145861	ENST00000393975	T	0.75938	-0.98	5.62	5.62	0.85841	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.044606	0.85682	D	0.000000	D	0.84813	0.5555	M	0.82716	2.605	0.58432	D	0.999992	D	0.58268	0.982	P	0.57283	0.817	D	0.87418	0.2380	10	0.87932	D	0	.	15.4784	0.75504	0.0:0.0:0.0:1.0	.	184	Q9BXJ5	C1QT2_HUMAN	G	229	ENSP00000377545:S229G	ENSP00000377545:S229G	S	-	1	0	C1QTNF2	159709061	1.000000	0.71417	0.982000	0.44146	0.392000	0.30506	8.040000	0.89188	2.151000	0.67156	0.482000	0.46254	AGC	C1QTNF2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000145861		0.582	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF2	HGNC	protein_coding	OTTHUMT00000252672.2		0	27	0	T			159776483	-1			no_errors	ENST00000393975	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	C	C	159776483	T	C	159776483	3	2	170	1	0	0	0	0	1	0	0	0	1970	1580	55	4	311	4	C1QTNF2	5	159776483	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	22515719	159776483	21138777	89	42760											
DOCK2	1794	genome.wustl.edu	37	chr5	169141380	169141380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagtgggcttgctgggtttGctgaagtggcgtatgaagcc	6	13	16	6	1	0	2	0	2	0	0	0	2	0	2	1	3	3	5	1	3	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:169141380G>C	ENST00000256935.8	+	19	1940	c.1860G>C	c.(1858-1860)ttG>ttC	p.L620F	DOCK2_ENST00000520908.1_Missense_Mutation_p.L112F|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	620					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)			TGCTGGGTTTGCTGAAGTGGC	0.458																																																	0													218	224	222					5																	169141380		2203	4300	6503	SO:0001583	missense	0			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.1860G>C	5.37:g.169141380G>C	ENSP00000256935:p.Leu620Phe		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.L620F	ENST00000256935.8	37	c.1860	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410293	0.62399	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908	T;T	0.28895	1.59;1.59	5.79	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.998;1.0;0.997	T	0.63756	-0.6565	10	0.66056	D	0.02	.	5.0569	0.14537	0.081:0.2461:0.5415:0.1314	.	112;620;620	E7ERW7;E5RFJ0;Q92608	.;.;DOCK2_HUMAN	F	620;138;112	ENSP00000256935:L620F;ENSP00000429283:L112F	ENSP00000256935:L620F	L	+	3	2	DOCK2	169073958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.791000	0.26915	1.364000	0.46038	0.655000	0.94253	TTG	DOCK2	-	NULL	ENSG00000134516		0.458	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2		0	73	0	G	NM_004946		169141380	1			no_errors	ENST00000256935	ensembl	human	known	74_37	missense	5.56	67	4	SNP	1.000	C	C	169141380	G	C	169141380	3	2	170	1	0	0	0	0	1	0	0	0	4701	1310	46	5	1934	5	DOCK2	5	169141380	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	9364897	169141380	11773880	90	42761											
CDHR2	54825	genome.wustl.edu	37	chr5	176011726	176011726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatgtagcctcactccgggGcatccgtgtggctgagaatg	7	9	15	10	2	1	1	1	1	0	1	3	3	3	2	3	4	1	3	3	4	2	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr5:176011726G>T	ENST00000510636.1	+	19	2718	c.2444G>T	c.(2443-2445)gGc>gTc	p.G815V	CDHR2_ENST00000506348.1_Missense_Mutation_p.G815V|CDHR2_ENST00000261944.5_Missense_Mutation_p.G815V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	815	Cadherin 8. {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						TCACTCCGGGGCATCCGTGTG	0.597																																																	0													112	108	109					5																	176011726		2203	4300	6503	SO:0001583	missense	0			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.2444G>T	5.37:g.176011726G>T	ENSP00000424565:p.Gly815Val		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G815V	ENST00000510636.1	37	c.2444	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	G	4.627	0.116606	0.08881	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.59364	0.27;0.27;0.27	5.28	2.05	0.26809	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.35008	0.0917	N	0.12961	0.28	0.19775	N	0.999956	B	0.18013	0.025	B	0.15870	0.014	T	0.18178	-1.0345	9	0.25106	T	0.35	-33.0059	6.2008	0.20575	0.3043:0.1427:0.553:0.0	.	815	Q9BYE9	CDHR2_HUMAN	V	815	ENSP00000424565:G815V;ENSP00000261944:G815V;ENSP00000421078:G815V	ENSP00000261944:G815V	G	+	2	0	CDHR2	175944332	0.185000	0.23213	0.019000	0.16419	0.082000	0.17680	0.844000	0.27654	0.593000	0.29745	-0.272000	0.10252	GGC	CDHR2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000074276		0.597	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	-	0	74	0	G	NM_017675		176011726	1	tier1	-	no_errors	ENST00000261944	ensembl	human	known	74_37	missense	18.87	43	10	SNP	0.000	T	T	176011726	G	T	176011726	3	4	170	1	0	0	0	0	1	0	0	0	3126	1203	42	3	2514	3	CDHR2	5	176011726	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	6870346	176011726	4903534	91	42762											
MYLK4	340156	genome.wustl.edu	37	chr6	2693022	2693022	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctaaagatgttacctgcGagggctgatgtccttttgct	7	16	10	8	1	1	2	0	1	1	1	2	3	2	2	2	1	3	3	2	1	3	5	rs147243450		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:2693022G>T	ENST00000274643.7	-	3	573	c.231C>A	c.(229-231)ctC>ctA	p.L77L	MYLK4_ENST00000268446.5_Silent_p.L77L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	77						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L77L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGTTACCTGCGAGGGCTGATG	0.443																																																	2	Substitution - coding silent(2)	lung(2)											115	93	100					6																	2693022		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.231C>A	6.37:g.2693022G>T			A2RUC0|Q5TAW2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L77	ENST00000274643.7	37	c.231	CCDS34330.1	6																																																																																			MYLK4	-	NULL	ENSG00000145949		0.443	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK4	HGNC	protein_coding	OTTHUMT00000039632.2		0	59	0	G	NM_001012418		2693022	-1			no_errors	ENST00000268446	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.000	T	T	2693022	G	T	2693022	2	4	170	1	0	0	0	0	0	0	0	1	10097	1045	37	2		2	MYLK4	6	2693022	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09		2693022	168422045	92	42763											
HIST1H3G	8355	genome.wustl.edu	37	chr6	26271605	26271605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgcagtctgcttggtgCgggccatctcagactacctg	5	11	13	12	2	2	1	1	0	2	1	3	1	2	1	2	2	5	2	2	2	1	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:26271605C>T	ENST00000305910.3	-	1	7	c.8G>A	c.(7-9)cGc>cAc	p.R3H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	3					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTGCTTGGTGCGGGCCATCTC	0.562																																																	0													24	27	26					6																	26271605		2192	4283	6475	SO:0001583	missense	0			Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"Histones / Replication-dependent"	4772	protein-coding gene	gene with protein product		602815	"H3 histone family, member H", "histone 1, H3g"	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.8G>A	6.37:g.26271605C>T	ENSP00000439660:p.Arg3His		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R3H	ENST00000305910.3	37	c.8	CCDS4602.1	6	.	.	.	.	.	.	.	.	.	.	.	13.88	2.368416	0.42003	.	.	ENSG00000256018	ENST00000305910	T	0.46819	0.86	4.36	4.36	0.52297	.	.	.	.	.	T	0.53126	0.1777	.	.	.	0.35535	D	0.802545	.	.	.	.	.	.	T	0.60762	-0.7199	6	0.62326	D	0.03	.	16.2821	0.82697	0.0:1.0:0.0:0.0	.	.	.	.	H	3	ENSP00000439660:R3H	ENSP00000439660:R3H	R	-	2	0	HIST1H3G	26379584	0.989000	0.36119	0.647000	0.29507	0.008000	0.06430	5.890000	0.69774	2.157000	0.67596	0.563000	0.77884	CGC	HIST1H3G	-	superfamily_Histone-fold,prints_Histone_H3	ENSG00000256018		0.562	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3G	HGNC	protein_coding	OTTHUMT00000040099.2		0	55	0	C	NM_003534		26271605	-1			no_errors	ENST00000305910	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.923	T	T	26271605	C	T	26271605	3	4	170	1	0	0	0	0	1	0	0	0	7188	768	27	1	406	1	HIST1H3G	6	26271605	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	23578583	26271605	144843462	93	42764											
OR12D2	26529	genome.wustl.edu	37	chr6	29364590	29364590	+	Silent	SNP	T	T	A	0	1	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	atctacttcatcagtgtgacTgggaatggagccgttctgat	9	13	11	8	1	4	2	2	2	2	0	4	4	4	4	1	2	2	1	1	2	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:29364590T>A	ENST00000383555.2	+	1	175	c.114T>A	c.(112-114)acT>acA	p.T38T	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCAGTGTGACTGGGAATGGAG	0.463																																																	0													132	146	141					6																	29364590		1510	2709	4219	SO:0001819	synonymous_variant	0				CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.114T>A	6.37:g.29364590T>A			B0S862|Q5SUN9|Q6IET9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T38	ENST00000383555.2	37	c.114	CCDS4659.1	6																																																																																			OR12D2	-	prints_GPCR_Rhodpsn	ENSG00000168787		0.463	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D2	HGNC	protein_coding	OTTHUMT00000076054.2	-	0	70	0	T			29364590	1	tier1	-	no_errors	ENST00000383555	ensembl	human	known	74_37	silent	72.58	17	45	SNP	0.000	A	A	29364590	T	A	29364590	2	1	170	1	0	0	0	0	0	0	0	1	10970	1567	55	5		5	OR12D2	6	29364590	Silent	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	3092985	29364590	141750477	94	42765											
TRIM10	10107	genome.wustl.edu	37	chr6	30128472	30128472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagagtgggcaagtaGgggactcctccaggtctggg	7	9	16	9	0	1	1	0	0	1	1	3	2	3	2	2	5	1	3	2	5	2	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:30128472G>A	ENST00000449742.2	-	1	239	c.164C>T	c.(163-165)cCt>cTt	p.P55L	TRIM15_ENST00000376694.4_5'Flank|TRIM15_ENST00000376688.1_5'Flank|TRIM10_ENST00000376704.3_Missense_Mutation_p.P55L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	55					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						TGGGCAAGTAGGGGACTCCTC	0.622																																																	0													151	159	156					6																	30128472		2203	4300	6503	SO:0001583	missense	0			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.164C>T	6.37:g.30128472G>A	ENSP00000397073:p.Pro55Leu		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.P55L	ENST00000449742.2	37	c.164	CCDS34375.1	6	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.684064	0.00745	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.05319	3.46;3.46	5.37	2.09	0.27110	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.288557	0.24907	N	0.034642	T	0.00815	0.0027	N	0.10809	0.05	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.14578	0.011;0.009	T	0.47368	-0.9123	10	0.11182	T	0.66	.	7.0539	0.25089	0.3447:0.0:0.6553:0.0	.	55;55	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	L	55	ENSP00000397073:P55L;ENSP00000365894:P55L	ENSP00000365894:P55L	P	-	2	0	TRIM10	30236451	0.001000	0.12720	0.001000	0.08648	0.071000	0.16799	0.862000	0.27899	0.127000	0.18452	0.549000	0.68633	CCT	TRIM10	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000204613		0.622	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM10	HGNC	protein_coding	OTTHUMT00000076634.1	-	0	82	0	G			30128472	-1	tier1	-	no_errors	ENST00000449742	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.014	A	A	30128472	G	A	30128472	3	1	170	1	0	0	0	0	1	0	0	0	16534	1000	35	3	1397	3	TRIM10	6	30128472	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	763882	30128472	140986595	95	42766											
BAT2	7916	genome.wustl.edu	37	chr6	31592989	31592989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtcacgattctctcgagagGaatttccgaccctgcaggcg	8	10	11	12	4	2	1	1	0	1	1	5	5	3	2	2	2	1	1	2	2	1	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:31592989G>A	ENST00000376033.2	+	6	739	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.E169K|SNORA38_ENST00000363946.1_RNA	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	169	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCTCGAGAGGAATTTCCGAC	0.572																																																	0													86	93	90					6																	31592989		1511	2709	4220	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.505G>A	6.37:g.31592989G>A	ENSP00000365201:p.Glu169Lys		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.E169K	ENST00000376033.2	37	c.505	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126820	0.56721	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.32272	1.46;1.46	4.56	4.56	0.56223	BAT2, N-terminal (1);	0.000000	0.51477	D	0.000081	T	0.47395	0.1443	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.994	T	0.50474	-0.8824	10	0.87932	D	0	-12.3809	16.6015	0.84817	0.0:0.0:1.0:0.0	.	169;169	B4DZ56;P48634	.;PRC2A_HUMAN	K	169	ENSP00000365175:E169K;ENSP00000365201:E169K	ENSP00000365175:E169K	E	+	1	0	PRRC2A	31700968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.191000	0.94940	2.527000	0.85204	0.655000	0.94253	GAA	PRRC2A	-	pfam_BAT2_N	ENSG00000204469		0.572	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	-	0	30	0	G	NM_080686		31592989	1	tier1	-	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	36.36	20	12	SNP	1.000	A	A	31592989	G	A	31592989	3	1	170	1	0	0	0	0	1	0	0	0	1320	1175	41	3	523	3	BAT2	6	31592989	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1464517	31592989	139522078	96	42767											
VARS	7407	genome.wustl.edu	37	chr6	31759425	31759425	+	Silent	SNP	A	A	G	1	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	tggatggcgttggtgagtgcAtggcccaggtgcagggagcc	6	8	19	8	1	0	1	0	1	0	0	0	3	0	3	2	6	3	3	2	6	0	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:31759425A>G	ENST00000375663.3	-	8	1502	c.1062T>C	c.(1060-1062)caT>caC	p.H354H	VARS_ENST00000444930.2_Silent_p.H59H	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	354					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)	TGGTGAGTGCATGGCCCAGGT	0.572																																																	0													152	111	126					6																	31759425		1511	2708	4219	SO:0001819	synonymous_variant	0			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.1062T>C	6.37:g.31759425A>G			B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.H354	ENST00000375663.3	37	c.1062	CCDS34412.1	6																																																																																			VARS	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Valyl-tRNA_ligase	ENSG00000204394		0.572	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	HGNC	protein_coding	OTTHUMT00000076619.2	-	0	44	0	A	NM_006295		31759425	-1	tier1	-	no_errors	ENST00000375663	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.309	G	G	31759425	A	G	31759425	2	3	170	1	0	0	0	0	0	0	0	1	17172	214	8	4		4	VARS	6	31759425	Silent	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	166436	31759425	139355642	97	42768											
HLA-DQA2	3118	genome.wustl.edu	37	chr6	32713585	32713585	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cagaggttcctgaggtcacaGtgttttccaagtttcctgtg	7	14	11	9	0	1	2	1	1	0	1	4	2	4	2	3	2	0	3	3	2	1	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:32713585G>T	ENST00000374940.3	+	3	451	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	117	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|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)"	TGAGGTCACAGTGTTTTCCAA	0.507																																																	0													174	134	148					6																	32713585		1511	2709	4220	SO:0001583	missense	0				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.349G>T	6.37:g.32713585G>T	ENSP00000364076:p.Val117Leu		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.V117L	ENST00000374940.3	37	c.349	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	7.883	0.730714	0.15507	.	.	ENSG00000237541	ENST00000374940	T	0.00606	6.26	3.06	3.06	0.35304	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.243651	0.34362	U	0.004036	T	0.00356	0.0011	L	0.56769	1.78	0.29132	N	0.879602	P	0.35542	0.508	B	0.37692	0.256	T	0.44065	-0.9352	10	0.59425	D	0.04	.	8.2477	0.31698	0.0:0.2475:0.7525:0.0	.	117	P01906	DQA2_HUMAN	L	117	ENSP00000364076:V117L	ENSP00000364076:V117L	V	+	1	0	HLA-DQA2	32821563	0.994000	0.37717	0.994000	0.49952	0.216000	0.24613	2.456000	0.44997	1.700000	0.51204	0.174000	0.16983	GTG	HLA-DQA2	-	pfscan_Ig-like_dom	ENSG00000237541		0.507	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	-	0	70	0	G	NM_020056		32713585	1	tier1	-	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.992	T	T	32713585	G	T	32713585	3	4	170	1	0	0	0	0	1	0	0	0	7232	1029	36	3	359	3	HLA-DQA2	6	32713585	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	954160	32713585	138401482	98	42769											
TNFRSF21	27242	genome.wustl.edu	37	chr6	47251781	47251781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggatcctgccggggccccTttttcagagtcctcgagctt	4	12	12	13	2	1	1	1	0	0	1	4	3	3	2	5	3	2	1	5	3	0	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:47251781T>C	ENST00000296861.2	-	3	1529	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	379					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCGGGGCCCCTTTTTCAGAGT	0.512																																																	0													98	104	102					6																	47251781		2203	4300	6503	SO:0001583	missense	0			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1136A>G	6.37:g.47251781T>C	ENSP00000296861:p.Lys379Arg		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21	p.K379R	ENST00000296861.2	37	c.1136	CCDS4921.1	6	.	.	.	.	.	.	.	.	.	.	T	28.9	4.960173	0.92791	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.70631	-0.5	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82068	-0.0640	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	379	O75509	TNR21_HUMAN	R	379;68	ENSP00000296861:K379R	ENSP00000296861:K379R	K	-	2	0	TNFRSF21	47359740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.708000	0.68377	2.371000	0.80710	0.533000	0.62120	AAG	TNFRSF21	-	NULL	ENSG00000146072		0.512	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1		0	78	0	T	NM_014452		47251781	-1			no_errors	ENST00000296861	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	C	C	47251781	T	C	47251781	3	2	170	1	0	0	0	0	1	0	0	0	16342	1609	56	4	847	4	TNFRSF21	6	47251781	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	14538196	47251781	123863286	99	42770											
LRRC1	55227	genome.wustl.edu	37	chr6	53761325	53761325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttcactggaactgaGagagaatcttcttacatatc	11	12	8	10	0	3	2	1	1	2	2	4	5	3	3	1	2	2	1	1	2	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:53761325G>T	ENST00000370888.1	+	5	753	c.476G>T	c.(475-477)aGa>aTa	p.R159I		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	159						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)		CTGGAACTGAGAGAGAATCTT	0.368																																																	0													158	168	165					6																	53761325		2202	4300	6502	SO:0001583	missense	0			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.476G>T	6.37:g.53761325G>T	ENSP00000359925:p.Arg159Ile		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R159I	ENST00000370888.1	37	c.476	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	G	31	5.080583	0.94050	.	.	ENSG00000137269	ENST00000370888	T	0.10477	2.87	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	M	0.82433	2.59	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.08743	-1.0707	10	0.72032	D	0.01	.	18.4928	0.90853	0.0:0.0:1.0:0.0	.	159	Q9BTT6	LRRC1_HUMAN	I	159	ENSP00000359925:R159I	ENSP00000359925:R159I	R	+	2	0	LRRC1	53869284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.988000	0.93501	2.618000	0.88619	0.655000	0.94253	AGA	LRRC1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000137269		0.368	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2		0	65	0	G	NM_025168		53761325	1			no_errors	ENST00000370888	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	53761325	G	T	53761325	3	4	170	1	0	0	0	0	1	0	0	0	9001	942	33	3	494	3	LRRC1	6	53761325	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	6509544	53761325	117353742	100	42771											
DST	667	genome.wustl.edu	37	chr6	56492824	56492824	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgattcaactgtgtggctagGgttttactattttcaggctg	7	17	11	6	0	2	1	2	1	0	0	2	1	2	1	0	3	2	3	0	3	4	7			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:56492824G>T	ENST00000361203.3	-	29	3985	c.3978C>A	c.(3976-3978)acC>acA	p.T1326T	DST_ENST00000370769.4_Silent_p.T1326T|DST_ENST00000244364.6_Silent_p.T1000T|DST_ENST00000370765.6_Silent_p.T1000T|DST_ENST00000421834.2_Silent_p.T1326T|DST_ENST00000446842.2_Silent_p.T1000T|DST_ENST00000312431.6_Silent_p.T1326T|DST_ENST00000370788.2_Silent_p.T1326T|DST_ENST00000518935.1_Silent_p.T1000T|DST_ENST00000370754.5_Silent_p.T1504T			Q03001	DYST_HUMAN	dystonin	1326					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)			GTGTGGCTAGGGTTTTACTAT	0.398																																																	0													160	151	154					6																	56492824		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3978C>A	6.37:g.56492824G>T			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.T1504	ENST00000361203.3	37	c.4512		6																																																																																			DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	77	0	G	NM_001723		56492824	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.232	T	T	56492824	G	T	56492824	2	4	170	1	0	0	0	0	0	0	0	1	4797	1219	43	3		3	DST	6	56492824	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	2731499	56492824	114622243	101	42772											
PRDM1	639	genome.wustl.edu	37	chr6	106536292	106536292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatccttaccaaggaatCtgcttttcaagtatgccacc	11	11	7	12	0	2	0	1	0	1	0	3	1	3	1	4	2	3	3	4	2	5	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:106536292C>A	ENST00000369096.4	+	2	493	c.259C>A	c.(259-261)Ctg>Atg	p.L87M	PRDM1_ENST00000369091.2_Missense_Mutation_p.L51M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	87	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACCAAGGAATCTGCTTTTCAA	0.498			"D, N, Mis, F, S"		DLBCL																																			Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											158	140	146					6																	106536292		2203	4300	6503	SO:0001583	missense	0				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.259C>A	6.37:g.106536292C>A	ENSP00000358092:p.Leu87Met		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.L87M	ENST00000369096.4	37	c.259	CCDS5054.2	6	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409588	0.62399	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000424894	T;T;T	0.71222	2.14;2.14;-0.55	5.91	5.91	0.95273	SET domain (2);	0.000000	0.64402	D	0.000001	D	0.82958	0.5150	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85573	0.1235	10	0.87932	D	0	-18.1049	11.2326	0.48920	0.0:0.8906:0.0:0.1094	.	87	O75626	PRDM1_HUMAN	M	51;87;51;51	ENSP00000358087:L51M;ENSP00000358092:L87M;ENSP00000395566:L51M	ENSP00000358087:L51M	L	+	1	2	PRDM1	106642985	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.806000	0.47947	2.804000	0.96469	0.462000	0.41574	CTG	PRDM1	-	smart_SET_dom,pirsf_Znf_PRDM1,pfscan_SET_dom	ENSG00000057657		0.498	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3	-	0	111	0	C			106536292	1	tier1	-	no_errors	ENST00000369096	ensembl	human	known	74_37	missense	25.58	64	22	SNP	1.000	A	A	106536292	C	A	106536292	3	1	170	1	0	0	0	0	1	0	0	0	12492	912	32	3	265	3	PRDM1	6	106536292	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	50043468	106536292	64578775	102	42773											
AIM1	202	genome.wustl.edu	37	chr6	106967402	106967402	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaatggagactcttctgaGaatcaagctcttggtcctca	11	12	9	9	0	5	3	2	2	3	2	6	5	6	3	1	2	1	1	1	2	3	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:106967402G>A	ENST00000369066.3	+	2	1582	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E		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)		ACTCTTCTGAGAATCAAGCTC	0.463																																																	0													89	99	96					6																	106967402		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1095G>A	6.37:g.106967402G>A			Q6P2P0|Q9BTM3	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E365	ENST00000369066.3	37	c.1095	CCDS34506.1	6																																																																																			AIM1	-	NULL	ENSG00000112297		0.463	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	-	0	31	0	G			106967402	1	tier1	-	no_errors	ENST00000369066	ensembl	human	known	74_37	silent	37.04	17	10	SNP	0.001	A	A	106967402	G	A	106967402	2	1	170	1	0	0	0	0	0	0	0	1	430	933	33	3		3	AIM1	6	106967402	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	431110	106967402	64147665	103	42774											
AKD1	221264	genome.wustl.edu	37	chr6	109980576	109980576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcccgtattattgtgctgtCtttgcccagaaattctctgg	7	16	8	10	1	2	1	0	0	2	1	4	1	3	1	2	1	2	2	2	1	3	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:109980576C>G	ENST00000424296.2	-	7	561	c.485G>C	c.(484-486)aGa>aCa	p.R162T	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.R162T|AK9_ENST00000285397.5_Missense_Mutation_p.R162T	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	162	Adenylate kinase 1.|LID 1. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ATTGTGCTGTCTTTGCCCAGA	0.368																																																	0													133	120	125					6																	109980576		2203	4300	6503	SO:0001583	missense	0			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.485G>C	6.37:g.109980576C>G	ENSP00000410186:p.Arg162Thr		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R162T	ENST00000424296.2	37	c.485	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.304340|4.304340	0.81136|0.81136	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000524674|ENST00000424296;ENST00000368948;ENST00000285397;ENST00000448084;ENST00000532976	.|T;T;T;T;T	.|0.71934	.|-0.59;-0.61;-0.52;0.97;0.97	5.46|5.46	5.46|5.46	0.80206|0.80206	.|ATPase, AAA+ type, core (1);	.|0.099868	.|0.64402	.|D	.|0.000006	D|D	0.82797|0.82797	0.5115|0.5115	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.962;0.998	.|P;D	.|0.72625	.|0.671;0.978	D|D	0.84241|0.84241	0.0472|0.0472	5|9	.|.	.|.	.|.	-16.8697|-16.8697	16.2363|16.2363	0.82377|0.82377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|162;162	.|Q5TCS8-2;Q5TCS8	.|.;AKD1_HUMAN	H|T	50|162;162;162;85;162	.|ENSP00000410186:R162T;ENSP00000357944:R162T;ENSP00000285397:R162T;ENSP00000407510:R85T;ENSP00000436325:R162T	.|.	D|R	-|-	1|2	0|0	AKD1|AKD1	110087269|110087269	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	3.333000|3.333000	0.52090|0.52090	2.560000|2.560000	0.86352|0.86352	0.650000|0.650000	0.86243|0.86243	GAC|AGA	AK9	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000155085		0.368	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding		-	0	35	0	C	NM_001145128		109980576	-1	tier1	-	no_errors	ENST00000424296	ensembl	human	known	74_37	missense	41.89	43	31	SNP	1.000	G	G	109980576	C	G	109980576	3	3	170	1	0	0	0	0	1	0	0	0	460	913	32	5	5402	5	AKD1	6	109980576	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	3013174	109980576	61134491	104	42775											
FIG4	9896	genome.wustl.edu	37	chr6	110083318	110083318	+	Silent	SNP	A	A	C	1	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	ctgtgtaatgttcttgatcgActaaatgtgattgcagaaag	12	14	10	5	1	1	3	0	2	1	1	2	4	1	3	0	0	1	3	0	0	4	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:110083318A>C	ENST00000230124.3	+	12	1420	c.1296A>C	c.(1294-1296)cgA>cgC	p.R432R	FIG4_ENST00000441478.2_Silent_p.R155R	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	432	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTCTTGATCGACTAAATGTGA	0.368																																																	0													102	103	102					6																	110083318		2203	4300	6503	SO:0001819	synonymous_variant	0			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1296A>C	6.37:g.110083318A>C			Q53H49|Q5TCS6	Silent	SNP	pfam_Syja_N,pfscan_Syja_N	p.R432	ENST00000230124.3	37	c.1296	CCDS5078.1	6																																																																																			FIG4	-	pfscan_Syja_N	ENSG00000112367		0.368	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1	-	0	63	0	A	NM_014845		110083318	1	tier1	-	no_errors	ENST00000230124	ensembl	human	known	74_37	silent	14.49	118	20	SNP	0.884	C	C	110083318	A	C	110083318	2	2	170	1	0	0	0	0	0	0	0	1	5910	262	10	4		4	FIG4	6	110083318	Silent	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	102742	110083318	61031749	105	42776											
ENPP1	5167	genome.wustl.edu	37	chr6	132172330	132172330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtggtgagaaaaggttgaCcagaagcctctgtgcctgtt	9	11	14	7	0	1	3	0	2	1	2	1	4	1	3	3	2	2	2	3	2	3	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:132172330C>A	ENST00000360971.2	+	4	499	c.479C>A	c.(478-480)aCc>aAc	p.T160N		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	160	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				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)	AAAAGGTTGACCAGAAGCCTC	0.453																																					Colon(104;336 1535 5856 11019 33782)												0													156	147	150					6																	132172330		2203	4300	6503	SO:0001583	missense	0			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.479C>A	6.37:g.132172330C>A	ENSP00000354238:p.Thr160Asn		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.T160N	ENST00000360971.2	37	c.479	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	C	6.584	0.476051	0.12521	.	.	ENSG00000197594	ENST00000360971	T	0.42513	0.97	5.55	2.82	0.32997	Somatomedin B domain (3);	0.857107	0.10062	N	0.720798	T	0.11153	0.0272	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.33121	0.158	T	0.43491	-0.9388	10	0.45353	T	0.12	1.364	8.0261	0.30438	0.0:0.7233:0.1325:0.1442	.	160	P22413	ENPP1_HUMAN	N	160	ENSP00000354238:T160N	ENSP00000354238:T160N	T	+	2	0	ENPP1	132214023	0.016000	0.18221	0.001000	0.08648	0.531000	0.34715	1.535000	0.36061	0.307000	0.22880	-1.031000	0.02408	ACC	ENPP1	-	pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom	ENSG00000197594		0.453	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	-	0	62	0	C			132172330	1	tier1	-	no_errors	ENST00000360971	ensembl	human	known	74_37	missense	28.77	52	21	SNP	0.001	A	A	132172330	C	A	132172330	3	1	170	1	0	0	0	0	1	0	0	0	5145	507	18	3	493	3	ENPP1	6	132172330	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	22089012	132172330	38942737	106	42777											
HECA	51696	genome.wustl.edu	37	chr6	139498225	139498225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccattttcctccttcaaaGttctcgaagcttattgatga	10	15	6	10	1	2	2	1	2	1	0	5	3	4	2	3	0	2	2	3	0	3	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:139498225G>A	ENST00000367658.2	+	4	1900	c.1615G>A	c.(1615-1617)Gtt>Att	p.V539I	RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586266.1_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)	539					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)		CTCCTTCAAAGTTCTCGAAGC	0.383																																																	0													83	74	77					6																	139498225		2203	4300	6503	SO:0001583	missense	0			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.1615G>A	6.37:g.139498225G>A	ENSP00000356630:p.Val539Ile			Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.V539I	ENST00000367658.2	37	c.1615	CCDS5194.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.226983	0.95173	.	.	ENSG00000112406	ENST00000367658	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	N	0.14661	0.345	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.62895	-0.6757	9	0.54805	T	0.06	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	539	Q9UBI9	HDC_HUMAN	I	539	.	ENSP00000356630:V539I	V	+	1	0	HECA	139539918	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	GTT	HECA	-	NULL	ENSG00000112406		0.383	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	HGNC	protein_coding	OTTHUMT00000042456.1	-	0	61	0	G	NM_016217		139498225	1	tier1	-	no_errors	ENST00000367658	ensembl	human	known	74_37	missense	52.00	48	52	SNP	1.000	A	A	139498225	G	A	139498225	3	1	170	1	0	0	0	0	1	0	0	0	7065	1029	36	3	1629	3	HECA	6	139498225	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	7325895	139498225	31616842	107	42778											
SYNE1	23345	genome.wustl.edu	37	chr6	152702455	152702455	+	Nonsense_Mutation	SNP	T	T	A	0	1	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	gggagccagcgactccactcTgctgagacggcttgcaccaa	9	6	12	14	2	1	1	0	1	1	1	2	4	2	2	3	2	4	3	3	2	1	1	rs119103243		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr6:152702455T>A	ENST00000367255.5	-	56	9296	c.8695A>T	c.(8695-8697)Aga>Tga	p.R2899*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R2938*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R2906*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R2899*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R2906*|SYNE1-AS1_ENST00000412161.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2899					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)		GACTCCACTCTGCTGAGACGG	0.537										HNSCC(10;0.0054)																																							0			GRCh37	CM070290	SYNE1	M	rs119103243						125	125	125					6																	152702455		2203	4300	6503	SO:0001587	stop_gained	0			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.8695A>T	6.37:g.152702455T>A	ENSP00000356224:p.Arg2899*		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R2899*	ENST00000367255.5	37	c.8695	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	28.6	4.937051	0.92458	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	6.01	-1.4	0.08968	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	18.7116	0.91659	0.0:0.0:0.6552:0.3448	.	.	.	.	X	2899;2906;2899;2906;2938	.	ENSP00000265368:R2899X	R	-	1	2	SYNE1	152744148	1.000000	0.71417	0.937000	0.37676	0.986000	0.74619	0.934000	0.28910	-0.425000	0.07371	0.528000	0.53228	AGA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	26	0	T	NM_182961		152702455	-1	tier1	rs119103243	no_errors	ENST00000265368	ensembl	human	known	74_37	nonsense	37.93	18	11	SNP	0.994	A	A	152702455	T	A	152702455	4	1	170	1	0	0	0	0	0	1	0	0	15492	1588	55	5	18135	5	SYNE1	6	152702455	Nonsense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	13204230	152702455	18412612	108	42779											
TNRC18	84629	genome.wustl.edu	37	chr7	5348561	5348561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gggccgccgggaggctgcggCtggacttctggtcccagtgc	3	7	18	13	3	1	0	0	0	1	0	2	2	2	2	3	6	2	2	3	6	0	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:5348561C>A	ENST00000430969.1	-	29	8993	c.8645G>T	c.(8644-8646)aGc>aTc	p.S2882I	TNRC18_ENST00000399537.4_Missense_Mutation_p.S2882I	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2882	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.						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)		GAGGCTGCGGCTGGACTTCTG	0.706																																																	0													7	10	9					7																	5348561		1833	4027	5860	SO:0001583	missense	0			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.8645G>T	7.37:g.5348561C>A	ENSP00000395538:p.Ser2882Ile		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S2882I	ENST00000430969.1	37	c.8645	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	c	18.17	3.563666	0.65651	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.12879	2.64;2.64	5.16	5.16	0.70880	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	T	0.10078	0.0247	N	0.02539	-0.55	0.34272	D	0.681132	P	0.42941	0.794	P	0.45377	0.478	T	0.39440	-0.9614	9	0.87932	D	0	.	18.2301	0.89933	0.0:1.0:0.0:0.0	.	2882	O15417	TNC18_HUMAN	I	2882	ENSP00000382452:S2882I;ENSP00000395538:S2882I	ENSP00000382452:S2882I	S	-	2	0	TNRC18	5315087	0.997000	0.39634	0.848000	0.33437	0.969000	0.65631	4.494000	0.60347	2.396000	0.81511	0.561000	0.74099	AGC	TNRC18	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000182095		0.706	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		-	0	32	0	C			5348561	-1	tier1	-	no_errors	ENST00000399537	ensembl	human	known	74_37	missense	18.29	67	15	SNP	0.987	A	A	5348561	C	A	5348561	3	1	170	1	0	0	0	0	1	0	0	0	16386	797	28	3	269	3	TNRC18	7	5348561	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09		5348561	153790102	109	42780											
COL28A1	340267	genome.wustl.edu	37	chr7	7491958	7491958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaactcacctttggacCttgtactccaattcccactg	9	12	5	15	0	2	0	2	0	0	0	4	1	4	1	4	1	2	1	4	1	3	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:7491958C>A	ENST00000399429.3	-	18	1641	c.1501G>T	c.(1501-1503)Ggt>Tgt	p.G501C		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	501	Collagen-like 4.				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)		ACCTTTGGACCTTGTACTCCA	0.413																																																	0													85	84	84					7																	7491958		1885	4116	6001	SO:0001583	missense	0			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.1501G>T	7.37:g.7491958C>A	ENSP00000382356:p.Gly501Cys		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.G501C	ENST00000399429.3	37	c.1501	CCDS43553.1	7	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254725	0.59212	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.99369	-5.78	3.85	3.85	0.44370	.	0.084638	0.46758	U	0.000261	D	0.99560	0.9842	H	0.96861	3.895	0.46203	D	0.998923	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.996;1.0	D	0.97796	1.0241	10	0.87932	D	0	-6.5983	11.5873	0.50925	0.0:1.0:0.0:0.0	.	501;501;501	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	C	501	ENSP00000382356:G501C	ENSP00000382347:G501C	G	-	1	0	COL28A1	7458483	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.170000	0.50816	2.454000	0.82982	0.655000	0.94253	GGT	COL28A1	-	pfam_Collagen	ENSG00000215018		0.413	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	HGNC	protein_coding	OTTHUMT00000315899.1	-	0	71	0	C	NM_001037763		7491958	-1	tier1	-	no_errors	ENST00000399429	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	A	A	7491958	C	A	7491958	3	1	170	1	0	0	0	0	1	0	0	0	3693	681	24	3	1948	3	COL28A1	7	7491958	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	2143397	7491958	151646705	110	42781											
URGCP	55665	genome.wustl.edu	37	chr7	43918839	43918839	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaaagtgacagcatttCttgaagcctgcttctctcca	10	11	7	13	0	2	2	0	2	2	0	4	2	3	2	3	0	3	2	3	0	3	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:43918839C>A	ENST00000453200.1	-	6	716	c.223G>T	c.(223-225)Gaa>Taa	p.E75*	URGCP_ENST00000223341.7_Nonsense_Mutation_p.E32*|URGCP_ENST00000402306.3_Nonsense_Mutation_p.E66*|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Nonsense_Mutation_p.E32*|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Nonsense_Mutation_p.E32*|URGCP_ENST00000447717.3_Nonsense_Mutation_p.E32*			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	75					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.E32*(1)		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						GACAGCATTTCTTGAAGCCTG	0.517																																																	1	Substitution - Nonsense(1)	endometrium(1)											53	55	55					7																	43918839		1930	4136	6066	SO:0001587	stop_gained	0				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.223G>T	7.37:g.43918839C>A	ENSP00000396918:p.Glu75*		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.E75*	ENST00000453200.1	37	c.223	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	C	40	7.976111	0.98591	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717;ENST00000426198;ENST00000455877	.	.	.	5.82	4.93	0.64822	.	0.598429	0.17090	N	0.187406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-20.7352	7.9284	0.29889	0.0:0.8311:0.0:0.1689	.	.	.	.	X	32;32;66;32;75;32;32;32	.	ENSP00000223341:E32X	E	-	1	0	URGCP	43885364	0.006000	0.16342	1.000000	0.80357	0.999000	0.98932	0.601000	0.24119	2.761000	0.94854	0.655000	0.94253	GAA	URGCP	-	NULL	ENSG00000106608		0.517	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	-	0	60	0	C	NM_001077664		43918839	-1	tier1	-	no_errors	ENST00000453200	ensembl	human	known	74_37	nonsense	16.47	71	14	SNP	0.989	A	A	43918839	C	A	43918839	4	1	170	1	0	0	0	0	0	1	0	0	17075	922	32	3	2576	3	URGCP	7	43918839	Nonsense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	36426881	43918839	115219824	111	42782											
GUSB	2990	genome.wustl.edu	37	chr7	65444472	65444472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaagtacagaccgctgcagtCcagcgtagttgaaaaagtca	14	7	11	9	2	1	2	1	1	0	1	2	3	2	2	2	0	3	5	2	0	5	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:65444472C>G	ENST00000304895.4	-	4	768	c.638G>C	c.(637-639)gGa>gCa	p.G213A	GUSB_ENST00000345660.6_Missense_Mutation_p.G213A|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000421103.1_Intron	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	213					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCGCTGCAGTCCAGCGTAGTT	0.532																																																	0													122	110	114					7																	65444472		2203	4300	6503	SO:0001583	missense	0			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.638G>C	7.37:g.65444472C>G	ENSP00000302728:p.Gly213Ala		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.G213A	ENST00000304895.4	37	c.638	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494142	0.85069	.	.	ENSG00000169919	ENST00000304895;ENST00000345660	D;D	0.99887	-7.53;-7.53	5.27	5.27	0.74061	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.048894	0.85682	D	0.000000	D	0.99924	0.9965	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96053	0.9033	10	0.87932	D	0	.	17.9613	0.89086	0.0:1.0:0.0:0.0	.	213	P08236	BGLR_HUMAN	A	213	ENSP00000302728:G213A;ENSP00000340734:G213A	ENSP00000302728:G213A	G	-	2	0	GUSB	65081907	1.000000	0.71417	0.995000	0.50966	0.675000	0.39556	7.598000	0.82745	2.464000	0.83262	0.556000	0.70494	GGA	GUSB	-	pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like	ENSG00000169919		0.532	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	-	0	74	0	C	NM_000181		65444472	-1	tier1	-	no_errors	ENST00000304895	ensembl	human	known	74_37	missense	15.62	80	15	SNP	1.000	G	G	65444472	C	G	65444472	3	3	170	1	0	0	0	0	1	0	0	0	6929	855	30	5	1353	5	GUSB	7	65444472	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	21525633	65444472	93694191	112	42783											
ELN	2006	genome.wustl.edu	37	chr7	73456951	73456951	+	Silent	SNP	C	C	G	0	0	0	1	1	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	ctcccctccgcagggctcggCgccttccccgcagttacctt	3	9	9	20	4	0	0	0	0	0	0	4	0	3	0	7	2	1	4	7	2	1	3	rs138649857		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:73456951C>G	ENST00000252034.7	+	6	639	c.240C>G	c.(238-240)ggC>ggG	p.G80G	ELN_ENST00000380576.5_Silent_p.G80G|ELN_ENST00000320399.6_Silent_p.G80G|ELN_ENST00000380562.4_Silent_p.G80G|ELN_ENST00000429192.1_Silent_p.G80G|ELN_ENST00000320492.7_Silent_p.G68G|ELN_ENST00000358929.4_Silent_p.G80G|ELN_ENST00000414324.1_Silent_p.G70G|ELN_ENST00000458204.1_Silent_p.G70G|ELN_ENST00000357036.5_Silent_p.G80G|ELN_ENST00000380553.4_Intron|ELN_ENST00000445912.1_Silent_p.G80G|ELN_ENST00000380584.4_Silent_p.G80G|ELN_ENST00000380575.4_Silent_p.G70G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	80					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CAGGGCTCGGCGCCTTCCCCG	0.632			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													63	63	63					7																	73456951		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.240C>G	7.37:g.73456951C>G			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	prints_Tropoelastin	p.G80	ENST00000252034.7	37	c.240	CCDS5562.2	7																																																																																			ELN	-	NULL	ENSG00000049540		0.632	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	-	0	69	0	C	NM_000501		73456951	1	tier1	-	no_errors	ENST00000358929	ensembl	human	known	74_37	silent	44.00	56	44	SNP	0.000	G	G	73456951	C	G	73456951	2	3	170	1	0	0	0	0	0	0	0	1	5087	755	27	5		5	ELN	7	73456951	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	8012479	73456951	85681712	113	42784											
MAGI2	9863	genome.wustl.edu	37	chr7	77649090	77649090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgctgcttcttctggcCgcaggctgaaagctcctttg	5	11	13	12	2	2	1	0	1	2	0	3	2	3	1	2	3	2	5	2	3	1	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:77649090C>G	ENST00000354212.4	-	22	4163	c.3910G>C	c.(3910-3912)Ggc>Cgc	p.G1304R	MAGI2_ENST00000522391.1_3'UTR|MAGI2_ENST00000419488.1_Missense_Mutation_p.G1290R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1304					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)				TTCTTCTGGCCGCAGGCTGAA	0.682																																																	0													49	57	55					7																	77649090		2203	4300	6503	SO:0001583	missense	0			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.3910G>C	7.37:g.77649090C>G	ENSP00000346151:p.Gly1304Arg		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.G1304R	ENST00000354212.4	37	c.3910	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	c	25.4	4.631044	0.87660	.	.	ENSG00000187391	ENST00000419488;ENST00000354212	T;T	0.09350	2.99;3.0	4.44	3.53	0.40419	.	.	.	.	.	T	0.12433	0.0302	N	0.19112	0.55	0.80722	D	1	D;P	0.55800	0.973;0.954	P;P	0.55455	0.776;0.602	T	0.15867	-1.0422	9	0.20046	T	0.44	.	11.7328	0.51748	0.0:0.9099:0.0:0.0901	.	1290;1304	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	R	1290;1304	ENSP00000405766:G1290R;ENSP00000346151:G1304R	ENSP00000346151:G1304R	G	-	1	0	MAGI2	77487026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.478000	0.45189	0.807000	0.34208	0.544000	0.68410	GGC	MAGI2	-	NULL	ENSG00000187391		0.682	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3		0	14	0	C	NM_012301		77649090	-1			no_errors	ENST00000354212	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	G	G	77649090	C	G	77649090	3	3	170	1	0	0	0	0	1	0	0	0	9229	652	23	5	461	5	MAGI2	7	77649090	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	4192139	77649090	81489573	114	42785											
SEMA3D	223117	genome.wustl.edu	37	chr7	84685162	84685162	+	Silent	SNP	A	A	T	1	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	tctggtatgaagaaagttccAataaattttgctcctgtttg	11	16	8	6	0	1	2	0	1	1	1	3	2	3	2	2	1	1	4	2	1	6	6	rs556375076		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:84685162A>T	ENST00000284136.6	-	7	775	c.732T>A	c.(730-732)atT>atA	p.I244I	SEMA3D_ENST00000444867.1_Silent_p.I244I	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	244	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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						AGAAAGTTCCAATAAATTTTG	0.323																																					Ovarian(63;442 1191 17318 29975 31528)												0													65	66	66					7																	84685162		2203	4300	6503	SO:0001819	synonymous_variant	0			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.732T>A	7.37:g.84685162A>T			A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.I244	ENST00000284136.6	37	c.732	CCDS34676.1	7																																																																																			SEMA3D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000153993		0.323	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	-	0	117	0	A	NM_152754		84685162	-1	tier1	-	no_errors	ENST00000284136	ensembl	human	known	74_37	silent	20.69	69	18	SNP	1.000	T	T	84685162	A	T	84685162	2	4	170	1	0	0	0	0	0	0	0	1	14072	126	5	5		5	SEMA3D	7	84685162	Silent	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	7036072	84685162	74453501	115	42786											
LAMB1	3912	genome.wustl.edu	37	chr7	107600921	107600921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtaacagggcagaaatGctaaagatgatgtttctgca	13	11	12	5	0	1	3	0	1	1	2	1	3	1	3	0	2	3	5	0	2	4	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:107600921G>C	ENST00000222399.6	-	18	2513	c.2283C>G	c.(2281-2283)agC>agG	p.S761R	LAMB1_ENST00000393560.1_Missense_Mutation_p.S761R|LAMB1_ENST00000393561.1_Missense_Mutation_p.S785R	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	761	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						GGGCAGAAATGCTAAAGATGA	0.483																																																	0													100	91	94					7																	107600921		2203	4300	6503	SO:0001583	missense	0			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.2283C>G	7.37:g.107600921G>C	ENSP00000222399:p.Ser761Arg		Q14D91	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S761R	ENST00000222399.6	37	c.2283	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914342	0.72983	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.43688	1.23;1.22;0.94	5.32	3.49	0.39957	Laminin IV (1);	.	.	.	.	T	0.64853	0.2636	M	0.86268	2.805	0.43868	D	0.996474	D;D;D	0.76494	0.994;0.996;0.999	P;D;D	0.69479	0.881;0.953;0.964	T	0.71206	-0.4661	9	0.87932	D	0	.	12.0762	0.53644	0.1425:0.0:0.8575:0.0	.	761;761;785	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	R	785;761;761	ENSP00000377191:S785R;ENSP00000222399:S761R;ENSP00000377190:S761R	ENSP00000222399:S761R	S	-	3	2	LAMB1	107388157	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.731000	0.26058	1.243000	0.43853	0.557000	0.71058	AGC	LAMB1	-	pfscan_Laminin_IV	ENSG00000091136		0.483	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	-	0	44	0	G	NM_002291		107600921	-1	tier1	-	no_errors	ENST00000222399	ensembl	human	known	74_37	missense	8.62	53	5	SNP	1.000	C	C	107600921	G	C	107600921	3	2	170	1	0	0	0	0	1	0	0	0	8638	1310	46	5	3145	5	LAMB1	7	107600921	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	22915759	107600921	51537742	116	42787											
DOCK4	9732	genome.wustl.edu	37	chr7	111503550	111503550	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtgtcctggaccaagttgGctacttcccggacatcaaag	9	9	12	11	1	1	0	1	0	0	0	3	2	3	2	3	4	1	2	3	4	3	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:111503550G>C	ENST00000437633.1	-	23	2607	c.2351C>G	c.(2350-2352)gCc>gGc	p.A784G	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.A784G	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	784					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)				GACCAAGTTGGCTACTTCCCG	0.493																																																	0													56	54	55					7																	111503550		1956	4137	6093	SO:0001583	missense	0				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.2351C>G	7.37:g.111503550G>C	ENSP00000404179:p.Ala784Gly		O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.A784G	ENST00000437633.1	37	c.2351	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.556137|3.556137	0.65425|0.65425	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000423057;ENST00000445943	T;T|.	0.03272|.	3.99;4.0|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75027|0.75027	0.3794|0.3794	M|M	0.69463|0.69463	2.115|2.115	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.49783|.	0.928;0.671;0.468;0.663|.	P;B;B;B|.	0.46975|.	0.533;0.302;0.225;0.346|.	T|T	0.73241|0.73241	-0.4045|-0.4045	10|5	0.36615|.	T|.	0.2|.	.|.	18.9943|18.9943	0.92806|0.92806	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	784;784;784;784|.	Q149N2;Q149N5;Q8N1I0;Q8N1I0-2|.	.;.;DOCK4_HUMAN;.|.	G|A	772;784;784;772;783|236;772	ENSP00000410746:A784G;ENSP00000404179:A784G|.	ENSP00000345432:A772G|.	A|P	-|-	2|1	0|0	DOCK4|DOCK4	111290786|111290786	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	9.657000|9.657000	0.98554|0.98554	2.706000|2.706000	0.92434|0.92434	0.563000|0.563000	0.77884|0.77884	GCC|CCA	DOCK4	-	NULL	ENSG00000128512		0.493	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	-	0	45	0	G	NM_014705		111503550	-1	tier1	-	no_errors	ENST00000428084	ensembl	human	known	74_37	missense	52.27	21	23	SNP	1.000	C	C	111503550	G	C	111503550	3	2	170	1	0	0	0	0	1	0	0	0	4703	1203	42	5	3669	5	DOCK4	7	111503550	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	3902629	111503550	47635113	117	42788											
HYAL4	23553	genome.wustl.edu	37	chr7	123516966	123516966	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagttaccttcacttgaaCcctgcaagttaccacataga	12	10	5	14	0	1	2	1	1	0	1	1	2	1	2	4	0	4	3	4	0	5	5	rs138582057	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:123516966C>T	ENST00000223026.4	+	5	1841	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	HYAL4_ENST00000476325.1_Silent_p.N401N	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	401					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTCACTTGAACCCTGCAAGTT	0.502																																																	0								C		0,4406		0,0,2203	138	129	132		1203	3.1	0.9	7	dbSNP_134	132	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HYAL4	NM_012269.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		401/482	123516966	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1203C>T	7.37:g.123516966C>T			D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.N401	ENST00000223026.4	37	c.1203	CCDS5789.1	7																																																																																			HYAL4	-	pirsf_Hyaluronidase	ENSG00000106302		0.502	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL4	HGNC	protein_coding	OTTHUMT00000348545.1		0	117	0	C	NM_012269		123516966	1			no_errors	ENST00000223026	ensembl	human	known	74_37	silent	6.17	76	5	SNP	0.911	T	T	123516966	C	T	123516966	2	4	170	1	0	0	0	0	0	0	0	1	7493	506	18	3		3	HYAL4	7	123516966	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	12013416	123516966	35621697	118	42789											
FLNC	2318	genome.wustl.edu	37	chr7	128491632	128491632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactacagcatcatcgtgcGcttcgatgacaagcacatcc	12	8	8	13	3	1	2	1	1	0	1	4	3	2	2	1	0	4	3	1	0	2	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:128491632G>A	ENST00000325888.8	+	35	6053	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R1898H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1931					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						ATCATCGTGCGCTTCGATGAC	0.587																																																	0													88	98	95					7																	128491632		2203	4300	6503	SO:0001583	missense	0			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.5792G>A	7.37:g.128491632G>A	ENSP00000327145:p.Arg1931His		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R1931H	ENST00000325888.8	37	c.5792	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668335	0.88348	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85013	-1.93;-1.93	5.7	5.7	0.88788	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.055371	0.64402	D	0.000003	D	0.91040	0.7181	M	0.80982	2.52	0.47374	D	0.999409	D;D	0.63880	0.984;0.993	P;P	0.60345	0.799;0.873	D	0.91843	0.5485	10	0.87932	D	0	.	13.5192	0.61557	0.0803:0.0:0.9197:0.0	.	1898;1931	Q14315-2;Q14315	.;FLNC_HUMAN	H	1931;1898	ENSP00000327145:R1931H;ENSP00000344002:R1898H	ENSP00000327145:R1931H	R	+	2	0	FLNC	128278868	0.953000	0.32496	1.000000	0.80357	0.777000	0.43975	3.037000	0.49775	2.688000	0.91661	0.655000	0.94253	CGC	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.587	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3		0	41	0	G			128491632	1			no_errors	ENST00000325888	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	A	A	128491632	G	A	128491632	3	1	170	1	0	0	0	0	1	0	0	0	5957	1087	38	1	5930	1	FLNC	7	128491632	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	4974666	128491632	30647031	119	42790											
TNPO3	23534	genome.wustl.edu	37	chr7	128694795	128694795	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcactgcctggtacacGagctgcaatgtcggctttgc	6	10	12	13	2	0	0	0	0	0	0	1	1	0	0	2	2	6	5	2	2	2	2	rs138263703	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:128694795G>T	ENST00000265388.5	-	1	173	c.30C>A	c.(28-30)ctC>ctA	p.L10L	TNPO3_ENST00000471234.1_Silent_p.L10L|TNPO3_ENST00000471166.1_Silent_p.L10L|TNPO3_ENST00000482320.1_5'UTR|TNPO3_ENST00000393245.1_Silent_p.L10L			Q9Y5L0	TNPO3_HUMAN	transportin 3	10					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						CCTGGTACACGAGCTGCAATG	0.622																																					Pancreas(147;583 2585 39696 52331)												0													112	90	97					7																	128694795		2203	4300	6503	SO:0001819	synonymous_variant	0			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.30C>A	7.37:g.128694795G>T			A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.L10	ENST00000265388.5	37	c.30	CCDS5809.1	7																																																																																			TNPO3	-	superfamily_ARM-type_fold	ENSG00000064419		0.622	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	-	0	82	0	G	NM_012470		128694795	-1	tier1	-	no_errors	ENST00000393245	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	T	T	128694795	G	T	128694795	2	4	170	1	0	0	0	0	0	0	0	1	16384	1045	37	2		2	TNPO3	7	128694795	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	203163	128694795	30443868	120	42791											
GIMAP6	474344	genome.wustl.edu	37	chr7	150325470	150325470	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcttggtcacgggtctGgtgctgagtttagactcgaa	7	12	15	7	2	3	2	1	1	2	1	4	4	3	2	0	4	1	2	0	4	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:150325470G>T	ENST00000328902.5	-	3	432	c.216C>A	c.(214-216)acC>acA	p.T72T	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	72	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCACGGGTCTGGTGCTGAGTT	0.577																																																	0													181	185	183					7																	150325470		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.216C>A	7.37:g.150325470G>T			C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.T72	ENST00000328902.5	37	c.216	CCDS34778.1	7																																																																																			GIMAP6	-	pfam_AIG1,superfamily_P-loop_NTPase	ENSG00000133561		0.577	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP6	HGNC	protein_coding	OTTHUMT00000353457.1	-	0	56	0	G	NM_024711		150325470	-1	tier1	-	no_errors	ENST00000328902	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.000	T	T	150325470	G	T	150325470	2	4	170	1	0	0	0	0	0	0	0	1	6409	1335	47	3		3	GIMAP6	7	150325470	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	21630675	150325470	8813193	121	42792											
WDR60	55112	genome.wustl.edu	37	chr7	158727131	158727131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcataagccatggcacaaGacaagatttgagagtggctc	13	9	10	9	0	1	3	1	1	1	3	3	4	1	3	1	2	1	2	1	2	3	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr7:158727131G>T	ENST00000407559.3	+	23	2827	c.2669G>T	c.(2668-2670)aGa>aTa	p.R890I		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	890					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CATGGCACAAGACAAGATTTG	0.423																																																	0													51	50	50					7																	158727131		1909	4102	6011	SO:0001583	missense	0				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2669G>T	7.37:g.158727131G>T	ENSP00000384290:p.Arg890Ile		Q9NW58	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R890I	ENST00000407559.3	37	c.2669	CCDS47757.1	7	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222540	0.58668	.	.	ENSG00000126870	ENST00000407559	T	0.62639	0.01	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.099468	0.64402	D	0.000001	T	0.80476	0.4630	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.82277	-0.0537	10	0.66056	D	0.02	-28.5559	16.8145	0.85730	0.0:0.0:1.0:0.0	.	373;890	A4D230;Q8WVS4	.;WDR60_HUMAN	I	890	ENSP00000384290:R890I	ENSP00000384290:R890I	R	+	2	0	WDR60	158419892	1.000000	0.71417	0.058000	0.19502	0.011000	0.07611	7.234000	0.78134	2.708000	0.92522	0.650000	0.86243	AGA	WDR60	-	superfamily_WD40_repeat_dom	ENSG00000126870		0.423	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	-	0	70	0	G	NM_018051		158727131	1	tier1	-	no_errors	ENST00000407559	ensembl	human	known	74_37	missense	50.00	31	31	SNP	0.992	T	T	158727131	G	T	158727131	3	4	170	1	0	0	0	0	1	0	0	0	17360	942	33	3	2759	3	WDR60	7	158727131	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	8401661	158727131	411532	122	42793											
LONRF1	91694	genome.wustl.edu	37	chr8	12592793	12592793	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacacatatacaaatatttAcctcttttaagctttctttg	13	17	3	8	0	2	1	0	0	2	1	2	1	2	1	1	0	3	1	1	0	6	9			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr8:12592793A>G	ENST00000398246.3	-	7	1636		c.e7+1		LONRF1_ENST00000533751.1_Splice_Site|LONRF1_ENST00000530693.1_5'Flank	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1								ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		ACAAATATTTACCTCTTTTAA	0.368																																																	0													88	80	82					8																	12592793		1845	4100	5945	SO:0001630	splice_region_variant	0			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1566+1T>C	8.37:g.12592793A>G			B4DM29|B4DU84|Q8TEA0|Q9BSV1	Splice_Site	SNP	-	e7+2	ENST00000398246.3	37	c.1566+2	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155837	0.57259	.	.	ENSG00000154359	ENST00000398246;ENST00000533751;ENST00000524526	.	.	.	5.32	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9499	0.58394	0.8644:0.1356:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LONRF1	12637164	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	8.910000	0.92685	1.085000	0.41206	0.460000	0.39030	.	LONRF1	-	-	ENSG00000154359		0.368	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	-	0	102	0	A	NM_152271	Intron	12592793	-1	tier1	-	no_errors	ENST00000398246	ensembl	human	known	74_37	splice_site	34.09	29	15	SNP	1.000	G	G	12592793	A	G	12592793	5	3	170	1	0	0	0	0	0	0	1	0	8929	405	14	4	777	4	LONRF1	8	12592793	Splice_Site	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09		12592793	133771229	123	42794											
BNIP3L	665	genome.wustl.edu	37	chr8	26265848	26265848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatttctgaaggtgttCattccatctctcttcctttc	7	17	6	11	0	4	2	1	1	3	1	8	2	6	2	2	1	0	2	2	1	2	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr8:26265848C>A	ENST00000380629.2	+	5	800	c.567C>A	c.(565-567)ttC>ttA	p.F189L	BNIP3L_ENST00000518611.1_Missense_Mutation_p.F149L|BNIP3L_ENST00000521254.1_3'UTR|BNIP3L_ENST00000520409.1_Missense_Mutation_p.F149L|BNIP3L_ENST00000523515.1_Missense_Mutation_p.F149L	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like	189					defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(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;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		TGAAGGTGTTCATTCCATCTC	0.418																																																	0													166	159	161					8																	26265848		2203	4300	6503	SO:0001583	missense	0			AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"BCL2/adenovirus E1B 19kD-interacting protein 3-like"			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433	ENST00000380629.2:c.567C>A	8.37:g.26265848C>A	ENSP00000370003:p.Phe189Leu		B0AZS9|Q5JW63|Q8NF87	Missense_Mutation	SNP	pfam_BNIP3	p.F189L	ENST00000380629.2	37	c.567	CCDS6050.1	8	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856571	0.32791	.	.	ENSG00000104765	ENST00000380629;ENST00000221209;ENST00000523949;ENST00000523515;ENST00000520409;ENST00000518611	.	.	.	6.16	5.29	0.74685	.	0.171552	0.64402	D	0.000004	T	0.49830	0.1580	L	0.31752	0.955	0.58432	D	0.999993	B;B	0.09022	0.0;0.002	B;B	0.12156	0.002;0.007	T	0.43015	-0.9417	9	0.14252	T	0.57	.	15.746	0.77944	0.0:0.9349:0.0:0.0651	.	149;189	B0AZS9;O60238	.;BNI3L_HUMAN	L	189;189;167;149;149;149	.	ENSP00000221209:F189L	F	+	3	2	BNIP3L	26321765	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	1.996000	0.40776	1.625000	0.50366	-0.157000	0.13467	TTC	BNIP3L	-	pfam_BNIP3	ENSG00000104765		0.418	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3L	HGNC	protein_coding	OTTHUMT00000216895.1	-	0	60	0	C	NM_004331		26265848	1	tier1	-	no_errors	ENST00000380629	ensembl	human	known	74_37	missense	24.32	83	27	SNP	1.000	A	A	26265848	C	A	26265848	3	1	170	1	0	0	0	0	1	0	0	0	1481	825	29	3	585	3	BNIP3L	8	26265848	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	13673055	26265848	120098174	124	42795											
TEX15	56154	genome.wustl.edu	37	chr8	30701460	30701460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccatcatcatttgaagttCtaccaaagtgtcaacagcac	13	12	5	11	0	4	1	3	1	1	0	5	1	5	1	2	0	3	2	2	0	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr8:30701460C>G	ENST00000256246.2	-	1	5148	c.5074G>C	c.(5074-5076)Gaa>Caa	p.E1692Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1692					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)		ATTTGAAGTTCTACCAAAGTG	0.358																																																	0													138	134	135					8																	30701460		2203	4300	6503	SO:0001583	missense	0			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.5074G>C	8.37:g.30701460C>G	ENSP00000256246:p.Glu1692Gln			Missense_Mutation	SNP	NULL	p.E1692Q	ENST00000256246.2	37	c.5074	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712515	0.68730	.	.	ENSG00000133863	ENST00000256246	T	0.27104	1.69	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000021	T	0.50956	0.1646	M	0.63843	1.955	0.47094	D	0.999315	D	0.89917	1.0	D	0.97110	1.0	T	0.50250	-0.8850	10	0.87932	D	0	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	1692	Q9BXT5	TEX15_HUMAN	Q	1692	ENSP00000256246:E1692Q	ENSP00000256246:E1692Q	E	-	1	0	TEX15	30821002	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.290000	0.65661	2.622000	0.88805	0.655000	0.94253	GAA	TEX15	-	NULL	ENSG00000133863		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	-	0	48	0	C			30701460	-1	tier1	-	no_errors	ENST00000256246	ensembl	human	known	74_37	missense	24.29	53	17	SNP	1.000	G	G	30701460	C	G	30701460	3	3	170	1	0	0	0	0	1	0	0	0	15826	922	32	5	3311	5	TEX15	8	30701460	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	4435612	30701460	115662562	125	42796											
UNC5D	137970	genome.wustl.edu	37	chr8	35583947	35583947	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atgcatcccagaaataaaatGccctacatccaaaatctgtc	16	9	4	12	0	1	1	0	0	1	1	4	1	3	1	3	0	3	1	3	0	6	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr8:35583947G>T	ENST00000404895.2	+	10	1909	c.1581G>T	c.(1579-1581)atG>atT	p.M527I	UNC5D_ENST00000416672.1_Missense_Mutation_p.M532I|UNC5D_ENST00000453357.2_Missense_Mutation_p.M522I|UNC5D_ENST00000420357.1_Missense_Mutation_p.M460I|UNC5D_ENST00000287272.2_Missense_Mutation_p.M458I|UNC5D_ENST00000449677.1_Missense_Mutation_p.M103I	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	527					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAAATAAAATGCCCTACATCC	0.468																																																	0													119	121	121					8																	35583947		2203	4300	6503	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1581G>T	8.37:g.35583947G>T	ENSP00000385143:p.Met527Ile		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.M527I	ENST00000404895.2	37	c.1581	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	0.556	-0.847468	0.02651	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.52983	0.67;1.12;1.12;0.67;0.64;2.58	5.8	-11.6	0.00059	.	1.028080	0.07622	N	0.927141	T	0.21801	0.0525	N	0.08118	0	0.09310	N	1	B;B;B;B	0.09022	0.0;0.0;0.002;0.001	B;B;B;B	0.06405	0.0;0.0;0.002;0.001	T	0.50101	-0.8867	10	0.24483	T	0.36	-1.1465	12.1925	0.54278	0.1333:0.1308:0.5793:0.1565	.	103;532;522;527	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	I	527;460;458;532;522;103	ENSP00000385143:M527I;ENSP00000392739:M460I;ENSP00000287272:M458I;ENSP00000412652:M532I;ENSP00000394303:M522I;ENSP00000397211:M103I	ENSP00000287272:M458I	M	+	3	0	UNC5D	35703489	0.000000	0.05858	0.000000	0.03702	0.276000	0.26787	-3.606000	0.00416	-5.341000	0.00016	-2.010000	0.00438	ATG	UNC5D	-	NULL	ENSG00000156687		0.468	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0	110	0	G			35583947	1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	missense	32.79	41	20	SNP	0.000	T	T	35583947	G	T	35583947	3	4	170	1	0	0	0	0	1	0	0	0	17044	1319	46	3	1619	3	UNC5D	8	35583947	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	4882487	35583947	110780075	126	42797											
MRPL15	29088	genome.wustl.edu	37	chr8	55059975	55059975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgttccattctttcttcGtggacaacccattccaaaaa	11	13	4	13	1	2	0	0	0	2	0	5	1	4	1	4	1	1	1	4	1	3	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr8:55059975G>T	ENST00000260102.4	+	5	661	c.587G>T	c.(586-588)cGt>cTt	p.R196L		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	196					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTCTTTCTTCGTGGACAACCC	0.378																																																	0													57	59	58					8																	55059975		2203	4300	6503	SO:0001583	missense	0			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.587G>T	8.37:g.55059975G>T	ENSP00000260102:p.Arg196Leu		Q96Q54|Q9H0Y1	Missense_Mutation	SNP	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	p.R196L	ENST00000260102.4	37	c.587	CCDS6158.1	8	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964217	0.53507	.	.	ENSG00000137547	ENST00000260102	.	.	.	5.33	5.33	0.75918	.	0.145914	0.64402	D	0.000005	T	0.64811	0.2632	L	0.49350	1.555	0.58432	D	0.999997	B	0.10296	0.003	B	0.12156	0.007	T	0.61525	-0.7045	9	0.54805	T	0.06	-18.556	19.0385	0.92989	0.0:0.0:1.0:0.0	.	196	Q9P015	RM15_HUMAN	L	196	.	ENSP00000260102:R196L	R	+	2	0	MRPL15	55222528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.976000	0.63785	2.484000	0.83849	0.650000	0.86243	CGT	MRPL15	-	NULL	ENSG00000137547		0.378	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL15	HGNC	protein_coding	OTTHUMT00000378254.1		0	38	0	G	NM_014175		55059975	1			no_errors	ENST00000260102	ensembl	human	known	74_37	missense	5.71	32	2	SNP	1.000	T	T	55059975	G	T	55059975	3	4	170	1	0	0	0	0	1	0	0	0	9818	1145	40	2	605	2	MRPL15	8	55059975	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	19476028	55059975	91304047	127	42798											
FAM110B	90362	genome.wustl.edu	37	chr8	59059063	59059063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcccggctgccaagcgcGcactgggcagccccacgctc	5	5	13	18	4	0	0	0	0	0	0	1	0	0	0	4	2	4	4	4	2	1	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr8:59059063G>A	ENST00000361488.3	+	5	1154	c.274G>A	c.(274-276)Gca>Aca	p.A92T	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	92						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TGCCAAGCGCGCACTGGGCAG	0.642																																																	0													32	35	34					8																	59059063		2203	4300	6503	SO:0001583	missense	0			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.274G>A	8.37:g.59059063G>A	ENSP00000355204:p.Ala92Thr		Q5BM08|Q9Y4K2	Missense_Mutation	SNP	NULL	p.A92T	ENST00000361488.3	37	c.274	CCDS6170.1	8	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292953	0.23564	.	.	ENSG00000169122	ENST00000361488	T	0.50001	0.76	5.4	5.4	0.78164	.	0.619004	0.17342	N	0.177735	T	0.36580	0.0972	L	0.29908	0.895	0.39610	D	0.969871	B	0.25486	0.127	B	0.22753	0.041	T	0.16928	-1.0386	9	.	.	.	-20.2756	14.8341	0.70169	0.0:0.0:0.8554:0.1446	.	92	Q8TC76	F110B_HUMAN	T	92	ENSP00000355204:A92T	.	A	+	1	0	FAM110B	59221617	0.585000	0.26774	0.995000	0.50966	0.987000	0.75469	1.791000	0.38744	2.527000	0.85204	0.462000	0.41574	GCA	FAM110B	-	NULL	ENSG00000169122		0.642	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM110B	HGNC	protein_coding	OTTHUMT00000378095.2		0	77	0	G	NM_147189		59059063	1			no_errors	ENST00000361488	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.991	A	A	59059063	G	A	59059063	3	1	170	1	0	0	0	0	1	0	0	0	5416	1087	38	1	276	1	FAM110B	8	59059063	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	3999088	59059063	87304959	128	42799											
RPL30	6156	genome.wustl.edu	37	chr8	99054886	99054886	+	Frame_Shift_Del	DEL	A	A	-																															agcatacctggatcaatgatAgccagtgtgcacactctgta																										TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr8:99054886delA	ENST00000521291.1	-	3	431	c.285delT	c.(283-285)gctfs	p.A95fs	KB-1208A12.3_ENST00000501016.2_RNA|RPL30_ENST00000523172.1_Frame_Shift_Del_p.A31fs|SNORA72_ENST00000384339.1_RNA|RPL30_ENST00000518164.1_Intron|RPL30_ENST00000287038.3_Frame_Shift_Del_p.A95fs|RPL30_ENST00000396070.2_Frame_Shift_Del_p.A76fs			P62888	RL30_HUMAN	ribosomal protein L30	95					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)			GATCAATGATAGCCAGTGTGC	0.368																																																	0													93	84	87					8																	99054886		2203	4300	6503	SO:0001589	frameshift_variant	0				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.285delT	8.37:g.99054886delA	ENSP00000428085:p.Ala95fs		B2R591|P04645|Q502Z6	Frame_Shift_Del	DEL	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.I96fs	ENST00000521291.1	37	c.285	CCDS34928.1	8																																																																																			RPL30	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	ENSG00000156482		0.368	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL30	HGNC	protein_coding	OTTHUMT00000380450.1		0	55	0	A			99054886	-1	tier1		no_errors	ENST00000287038	ensembl	human	known	74_37	frame_shift_del	24.39	31	10	DEL	0.998	-	-	99054886	A	-	99054886	7	5	170	1	0	1	0	1	0	0	0	0	13625	407	15	0	70	0	RPL30	8	99054886	Frame_Shift_Del	DEL	A	TCGA-VR-A8EZ-01A-11D-A36J-09	39995823	99054886	47309136	129	42800											
CSMD3	114788	genome.wustl.edu	37	chr8	113392679	113392679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattcaaaagatggggtattGttgttcctgaaatgatatat	13	16	9	3	0	1	3	1	2	0	1	2	3	2	3	1	2	0	3	1	2	7	8			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr8:113392679G>A	ENST00000297405.5	-	38	6282	c.6038C>T	c.(6037-6039)aCa>aTa	p.T2013I	CSMD3_ENST00000455883.2_Missense_Mutation_p.T1909I|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1973I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1943I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2013	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1973K(1)|p.T2013K(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						ATGGGGTATTGTTGTTCCTGA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - Missense(2)	lung(2)											100	105	103					8																	113392679		2203	4295	6498	SO:0001583	missense	0			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.6038C>T	8.37:g.113392679G>A	ENSP00000297405:p.Thr2013Ile		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T2013I	ENST00000297405.5	37	c.6038	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720984	0.89205	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.64	5.64	0.86602	CUB (5);	0.000000	0.64402	D	0.000001	T	0.33089	0.0851	L	0.35854	1.095	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.98;1.0	D;D;D	0.97110	0.999;0.983;1.0	T	0.01330	-1.1383	10	0.21540	T	0.41	.	19.2842	0.94065	0.0:0.0:1.0:0.0	.	1909;2013;1973	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	1973;2013;1283;1909;1943	ENSP00000345799:T1973I;ENSP00000297405:T2013I;ENSP00000341558:T1283I;ENSP00000412263:T1909I;ENSP00000343124:T1943I	ENSP00000297405:T2013I	T	-	2	0	CSMD3	113461855	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.553000	0.98118	2.654000	0.90174	0.591000	0.81541	ACA	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0	56	0	G	NM_052900		113392679	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	A	A	113392679	G	A	113392679	3	1	170	1	0	0	0	0	1	0	0	0	3955	1377	48	3	5221	3	CSMD3	8	113392679	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	14337793	113392679	32971343	130	42801											
CPSF1	29894	genome.wustl.edu	37	chr8	145626338	145626338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcacccacgagcccctcGtgctcctcagccaggctctc	5	7	7	22	2	3	0	2	0	1	0	6	1	4	0	6	1	3	2	6	1	0	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr8:145626338G>A	ENST00000349769.3	-	6	613	c.519C>T	c.(517-519)caC>caT	p.H173H	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	173					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGAGCCCCTCGTGCTCCTCAG	0.721																																					NSCLC(133;1088 1848 27708 34777 35269)												0													26	28	27					8																	145626338		2202	4300	6502	SO:0001819	synonymous_variant	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.519C>T	8.37:g.145626338G>A			Q96AF0	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.H173	ENST00000349769.3	37	c.519	CCDS34966.1	8																																																																																			CPSF1	-	NULL	ENSG00000071894		0.721	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	-	0	35	0	G	NM_013291		145626338	-1	tier1	-	no_errors	ENST00000349769	ensembl	human	known	74_37	silent	30.00	49	21	SNP	0.996	A	A	145626338	G	A	145626338	2	1	170	1	0	0	0	0	0	0	0	1	3831	1136	40	1		1	CPSF1	8	145626338	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	32233659	145626338	737684	131	42802											
KANK1	23189	genome.wustl.edu	37	chr9	712040	712040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtcctgtaaggatgCagctgtagggacacttgttg	8	11	13	9	0	0	0	0	0	0	0	2	2	2	2	2	3	2	5	2	3	2	4	rs141509675	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:712040C>T	ENST00000382303.1	+	7	1926	c.1274C>T	c.(1273-1275)gCa>gTa	p.A425V	KANK1_ENST00000382297.2_Missense_Mutation_p.A425V|KANK1_ENST00000382293.3_Missense_Mutation_p.A267V|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	425	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGTAAGGATGCAGCTGTAGGG	0.532																																																	0													114	96	102					9																	712040		2203	4300	6503	SO:0001583	missense	0			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.1274C>T	9.37:g.712040C>T	ENSP00000371740:p.Ala425Val		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A425V	ENST00000382303.1	37	c.1274	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	C	7.119	0.577588	0.13686	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.37584	1.19;1.19;1.22	5.73	3.86	0.44501	.	0.220702	0.31847	N	0.006977	T	0.23532	0.0569	L	0.27053	0.805	0.43471	D	0.995682	B;B	0.14438	0.01;0.01	B;B	0.14023	0.01;0.005	T	0.04593	-1.0940	10	0.27785	T	0.31	-14.0188	8.8605	0.35253	0.0:0.7089:0.0:0.2911	.	425;425	Q5W0W1;Q14678	.;KANK1_HUMAN	V	425;425;425;267	ENSP00000371740:A425V;ENSP00000371734:A425V;ENSP00000371730:A267V	ENSP00000346479:A425V	A	+	2	0	KANK1	702040	0.467000	0.25831	0.518000	0.27811	0.498000	0.33706	1.026000	0.30103	0.746000	0.32786	0.655000	0.94253	GCA	KANK1	-	NULL	ENSG00000107104		0.532	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	-	0	51	0	C	NM_015158		712040	1	tier1	-	no_errors	ENST00000382297	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.436	T	T	712040	C	T	712040	3	4	170	1	0	0	0	0	1	0	0	0	8003	710	25	3	1280	3	KANK1	9	712040	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09		712040	140501391	132	42803											
PLAA	9373	genome.wustl.edu	37	chr9	26947000	26947000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgtccagctcgtggcccCggagcgagcagctcagccgg	6	5	15	15	5	1	0	1	0	0	0	3	2	2	1	4	3	6	4	4	3	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:26947000C>T	ENST00000397292.3	-	1	461	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	IFT74_ENST00000443698.1_5'Flank|PLAA_ENST00000520884.1_Missense_Mutation_p.R15Q|IFT74_ENST00000433700.1_5'Flank	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	15					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)		CTCGTGGCCCCGGAGCGAGCA	0.711																																					Melanoma(175;2670 2735 14091 35526)												0													17	18	17					9																	26947000		2189	4282	6471	SO:0001583	missense	0			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.44G>A	9.37:g.26947000C>T	ENSP00000380460:p.Arg15Gln		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	pfam_PUL,pfam_WD40_repeat,pfam_PLAA_fam_Ub-bd_PFU,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R15Q	ENST00000397292.3	37	c.44	CCDS35000.1	9	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803252	0.50315	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.60672	0.17;0.17	5.33	0.607	0.17564	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.492361	0.24447	N	0.038455	T	0.29914	0.0748	N	0.17594	0.5	0.21499	N	0.999661	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.07597	-1.0764	10	0.14252	T	0.57	0.0578	2.6139	0.04899	0.148:0.1391:0.4527:0.2602	.	15;15	E5RIM3;Q9Y263	.;PLAP_HUMAN	Q	15	ENSP00000380460:R15Q;ENSP00000429372:R15Q	ENSP00000380460:R15Q	R	-	2	0	PLAA	26937000	0.893000	0.30496	0.999000	0.59377	0.988000	0.76386	0.715000	0.25822	0.196000	0.20367	-0.479000	0.04858	CGG	PLAA	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000137055		0.711	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAA	HGNC	protein_coding	OTTHUMT00000051958.2		0	59	0	C	NM_001031689		26947000	-1			no_errors	ENST00000397292	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.981	T	T	26947000	C	T	26947000	3	4	170	1	0	0	0	0	1	0	0	0	12050	652	23	1	2399	1	PLAA	9	26947000	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	26234960	26947000	114266431	133	42804											
SPTLC1	10558	genome.wustl.edu	37	chr9	94809961	94809961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaagtgcattctccatGttggcactgataagatcaat	13	11	9	8	0	2	2	1	1	1	1	3	3	2	2	1	1	2	4	1	1	4	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:94809961G>T	ENST00000262554.2	-	10	923	c.918C>A	c.(916-918)aaC>aaA	p.N306K		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	306					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)	CATTCTCCATGTTGGCACTGA	0.403																																																	0													74	67	70					9																	94809961		2203	4300	6503	SO:0001583	missense	0			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.918C>A	9.37:g.94809961G>T	ENSP00000262554:p.Asn306Lys		A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.N306K	ENST00000262554.2	37	c.918	CCDS6692.1	9	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007227	0.54361	.	.	ENSG00000090054	ENST00000262554	D	0.90444	-2.67	5.09	4.15	0.48705	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.87951	0.6307	L	0.55481	1.735	0.80722	D	1	B;B	0.24651	0.03;0.108	B;B	0.33121	0.158;0.102	D	0.85189	0.1008	10	0.66056	D	0.02	-24.6971	7.5652	0.27874	0.2655:0.0:0.7345:0.0	.	306;306	Q6NUL7;O15269	.;SPTC1_HUMAN	K	306	ENSP00000262554:N306K	ENSP00000262554:N306K	N	-	3	2	SPTLC1	93849782	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.758000	0.47565	1.288000	0.44600	0.650000	0.86243	AAC	SPTLC1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000090054		0.403	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	-	0	71	0	G	NM_006415		94809961	-1	tier1	-	no_errors	ENST00000262554	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	94809961	G	T	94809961	3	4	170	1	0	0	0	0	1	0	0	0	15170	1368	48	3	527	3	SPTLC1	9	94809961	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	67862961	94809961	46403470	134	42805											
NCBP1	4686	genome.wustl.edu	37	chr9	100418317	100418317	+	Silent	SNP	T	T	C	0	1	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	gattgtcttagtcaagatccTgaaagtcccaaaccgaagtt	13	11	8	9	1	2	2	1	1	1	1	4	4	4	2	3	0	1	1	3	0	5	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:100418317T>C	ENST00000375147.3	+	14	1579	c.1323T>C	c.(1321-1323)ccT>ccC	p.P441P		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	441					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GTCAAGATCCTGAAAGTCCCA	0.333																																					Ovarian(36;879 898 2893 44212 50307)												0													111	112	111					9																	100418317		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1323T>C	9.37:g.100418317T>C			B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.P441	ENST00000375147.3	37	c.1323	CCDS6728.1	9																																																																																			NCBP1	-	pfam_MIF4G-like_typ-1,superfamily_ARM-type_fold	ENSG00000136937		0.333	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	-	0	98	0	T	NM_002486		100418317	1	tier1	-	no_errors	ENST00000375147	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.939	C	C	100418317	T	C	100418317	2	2	170	1	0	0	0	0	0	0	0	1	10250	1567	55	4		4	NCBP1	9	100418317	Silent	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	5608356	100418317	40795114	135	42806											
ANKS6	203286	genome.wustl.edu	37	chr9	101542471	101542471	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagacaggaaaaggcaaacCttcagtccacccttgtcatc	14	8	7	12	0	2	1	2	0	0	1	4	2	3	2	3	2	1	1	3	2	4	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:101542471C>A	ENST00000353234.4	-	6	1415	c.1368G>T	c.(1366-1368)aaG>aaT	p.K456N	ANKS6_ENST00000375018.1_Splice_Site_p.K456N|ANKS6_ENST00000540940.1_Splice_Site_p.K261N|ANKS6_ENST00000375019.2_Splice_Site_p.K155N			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	456						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)				AAAGGCAAACCTTCAGTCCAC	0.632																																																	0													45	47	46					9																	101542471		1925	4116	6041	SO:0001630	splice_region_variant	0			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.1368+1G>T	9.37:g.101542471C>A			A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.K456N	ENST00000353234.4	37	c.1368	CCDS43856.1	9	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851183	0.91277	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.73258	1.55;-0.73;-0.71;1.79	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82476	0.5045	M	0.63843	1.955	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.80964	-0.1147	9	.	.	.	-32.5179	17.5828	0.87973	0.0:1.0:0.0:0.0	.	456;456	Q68DC2-4;Q68DC2	.;ANKS6_HUMAN	N	155;456;456;261	ENSP00000364159:K155N;ENSP00000364158:K456N;ENSP00000297837:K456N;ENSP00000442189:K261N	.	K	-	3	2	ANKS6	100582292	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.237000	0.78164	2.752000	0.94435	0.557000	0.71058	AAG	ANKS6	-	NULL	ENSG00000165138		0.632	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	-	0	126	0	C	NM_173551	Missense_Mutation	101542471	-1	tier1	-	no_errors	ENST00000375018	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A	A	101542471	C	A	101542471	5	1	170	1	0	0	0	0	0	0	1	0	692	695	24	3	1287	3	ANKS6	9	101542471	Splice_Site	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	1124154	101542471	39670960	136	42807											
DNAJC25	548645	genome.wustl.edu	37	chr9	114415453	114415453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggaagagatacaggaGatggatgaagaatgaagggc	17	5	16	3	0	0	6	0	2	0	4	0	10	0	8	0	4	1	0	0	4	5	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:114415453G>T	ENST00000313525.3	+	4	1090	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	345						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						AGATACAGGAGATGGATGAAG	0.373																																																	0													147	143	144					9																	114415453		1855	4093	5948	SO:0001583	missense	0				CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"Heat shock proteins / DNAJ (HSP40)"	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.1034G>T	9.37:g.114415453G>T	ENSP00000320650:p.Arg345Ile		Q5QTD8|Q96BN9	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,prints_DnaJ_domain,pfscan_DnaJ_domain	p.R345I	ENST00000313525.3	37	c.1034	CCDS43862.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.323565	0.95708	.	.	ENSG00000059769	ENST00000313525	T	0.63255	-0.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82559	0.5063	M	0.82716	2.605	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.83050	-0.0153	10	0.87932	D	0	-29.6863	20.8794	0.99867	0.0:0.0:1.0:0.0	.	345	Q9H1X3	DJC25_HUMAN	I	345	ENSP00000320650:R345I	ENSP00000320650:R345I	R	+	2	0	DNAJC25	113455274	1.000000	0.71417	0.963000	0.40424	0.987000	0.75469	9.336000	0.96533	2.941000	0.99782	0.655000	0.94253	AGA	DNAJC25	-	NULL	ENSG00000059769		0.373	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC25	HGNC	protein_coding	OTTHUMT00000156218.3	-	0	82	0	G	NM_001015882		114415453	1	tier1	-	no_errors	ENST00000313525	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	114415453	G	T	114415453	3	4	170	1	0	0	0	0	1	0	0	0	4657	942	33	3	1048	3	DNAJC25	9	114415453	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	12872982	114415453	26797978	137	42808											
AMBP	259	genome.wustl.edu	37	chr9	116823765	116823765	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttgttaccgttgcccatGcagccgccgtactggaaagt	9	10	11	11	3	0	0	0	0	0	0	0	1	0	1	4	1	5	5	4	1	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:116823765G>A	ENST00000265132.3	-	8	1054	c.792C>T	c.(790-792)tgC>tgT	p.C264C		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	264	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CGTTGCCCATGCAGCCGCCGT	0.587																																																	0													76	69	72					9																	116823765		2203	4300	6503	SO:0001819	synonymous_variant	0			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.792C>T	9.37:g.116823765G>A			P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin	p.C264	ENST00000265132.3	37	c.792	CCDS6800.1	9																																																																																			AMBP	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	ENSG00000106927		0.587	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBP	HGNC	protein_coding	OTTHUMT00000053758.2		0	86	0	G	NM_001633		116823765	-1			no_errors	ENST00000265132	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.959	A	A	116823765	G	A	116823765	2	1	170	1	0	0	0	0	0	0	0	1	564	1311	46	3		3	AMBP	9	116823765	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	2408312	116823765	24389666	138	42809											
PAPPA	5069	genome.wustl.edu	37	chr9	118949454	118949455	+	Frame_Shift_Ins	INS	-	-	T																															ctgtatgacaaatgttcttaINStatctcacgtgaccgaggat																								rs541801151		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:118949454_118949455insT	ENST00000328252.3	+	2	806_807	c.437_438insT	c.(436-441)tatatcfs	p.I147fs	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	147					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAATGTTCTTATATCTCACGTG	0.441																																																	0																																										SO:0001589	frameshift_variant	0				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.438dupT	9.37:g.118949455_118949455dupT	ENSP00000330658:p.Ile147fs		B1AMF9|Q08371|Q68G52|Q9UDK7	Frame_Shift_Ins	INS	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.I147fs	ENST00000328252.3	37	c.437_438	CCDS6813.1	9																																																																																			PAPPA	-	superfamily_ConA-like_lec_gl_sf,smart_LamG-like	ENSG00000182752		0.441	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1		0	36	0	-	NM_002581		118949455	1	tier1		no_errors	ENST00000328252	ensembl	human	known	74_37	frame_shift_ins	65.52	10	19	INS	1.000:1.000	T	T	118949455	-	T	118949454	7	5	170	1	0	1	1	0	0	0	0	0	11471	449	16	0	443	0	PAPPA	9	118949454	Frame_Shift_Ins	INS	-	TCGA-VR-A8EZ-01A-11D-A36J-09	2125689	118949454	22263977	139	42810											
STRBP	55342	genome.wustl.edu	37	chr9	125898383	125898383	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaaacagtttctccaaGgcagctaaagctgcactcgc	13	7	8	13	1	1	1	0	0	1	1	3	1	1	1	2	1	4	5	2	1	5	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:125898383G>T	ENST00000348403.5	-	16	2139	c.1710C>A	c.(1708-1710)gcC>gcA	p.A570A	STRBP_ENST00000447404.2_Silent_p.A570A|STRBP_ENST00000360998.3_Silent_p.A556A	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	570	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GTTTCTCCAAGGCAGCTAAAG	0.413																																																	0													128	126	126					9																	125898383		2203	4300	6503	SO:0001819	synonymous_variant	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"spermatid perinuclear RNA-binding protein", "interleukin enhancer binding factor 3-like"	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1710C>A	9.37:g.125898383G>T			Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Silent	SNP	pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.A570	ENST00000348403.5	37	c.1710	CCDS6851.1	9																																																																																			STRBP	-	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	ENSG00000165209		0.413	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRBP	HGNC	protein_coding	OTTHUMT00000053982.1	-	0	45	0	G			125898383	-1	tier1	-	no_errors	ENST00000348403	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T	T	125898383	G	T	125898383	2	4	170	1	0	0	0	0	0	0	0	1	15374	987	35	3		3	STRBP	9	125898383	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	6948929	125898383	15315048	140	42811											
ADAMTS13	11093	genome.wustl.edu	37	chr9	136307651	136307651	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctgctcggtgagctgtggGgcaggtgagacctggggaag	6	7	19	9	1	0	2	0	2	0	1	1	4	0	3	2	6	2	3	2	6	1	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:136307651G>T	ENST00000371929.3	+	17	2544	c.2100G>T	c.(2098-2100)ggG>ggT	p.G700G	ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.G669G|ADAMTS13_ENST00000355699.2_Silent_p.G700G	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	700	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGAGCTGTGGGGCAGGTGAGA	0.677																																																	0													71	67	69					9																	136307651		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2100G>T	9.37:g.136307651G>T			Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G700	ENST00000371929.3	37	c.2100	CCDS6970.1	9																																																																																			ADAMTS13	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000160323		0.677	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	-	0	31	0	G	NM_139025		136307651	1	tier1	-	no_errors	ENST00000371929	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	T	T	136307651	G	T	136307651	2	4	170	1	0	0	0	0	0	0	0	1	258	1219	43	3		3	ADAMTS13	9	136307651	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	10409268	136307651	4905780	141	42812											
NOTCH1	4851	genome.wustl.edu	37	chr9	139409151	139409151	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatgttgatgttacacatgCtccctaagggcagggcgggt	8	10	14	9	2	0	1	0	1	0	0	1	2	1	1	1	3	2	4	1	3	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:139409151C>G	ENST00000277541.6	-	13	2093	c.2018G>C	c.(2017-2019)aGc>aCc	p.S673T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	673	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)		GTTACACATGCTCCCTAAGGG	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													25	33	31					9																	139409151		2129	4229	6358	SO:0001583	missense	0			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.2018G>C	9.37:g.139409151C>G	ENSP00000277541:p.Ser673Thr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.S673T	ENST00000277541.6	37	c.2018	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	0.066	-1.211871	0.01555	.	.	ENSG00000148400	ENST00000277541	D	0.91686	-2.89	5.45	3.56	0.40772	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.447187	0.25780	N	0.028350	T	0.78336	0.4267	N	0.03304	-0.355	0.09310	N	1	B	0.17038	0.02	B	0.18871	0.023	T	0.63143	-0.6703	10	0.13108	T	0.6	.	8.7681	0.34715	0.0:0.6334:0.2909:0.0757	.	673	P46531	NOTC1_HUMAN	T	673	ENSP00000277541:S673T	ENSP00000277541:S673T	S	-	2	0	NOTCH1	138528972	0.026000	0.19158	0.025000	0.17156	0.006000	0.05464	1.003000	0.29809	0.639000	0.30564	-0.175000	0.13238	AGC	NOTCH1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	102	0	C	NM_017617		139409151	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	23.88	102	32	SNP	0.139	G	G	139409151	C	G	139409151	3	3	170	1	0	0	0	0	1	0	0	0	10586	797	28	5	5737	5	NOTCH1	9	139409151	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	3101500	139409151	1804280	142	42813											
FBXW5	54461	genome.wustl.edu	37	chr9	139837095	139837095	+	Silent	SNP	G	G	T	0	0	1	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	ctggtctcggtgagccaacaGccaaacacgtcatagggctt	10	8	11	12	2	2	1	1	1	1	0	3	1	2	1	2	3	4	1	2	3	3	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:139837095G>T	ENST00000325285.3	-	5	658	c.579C>A	c.(577-579)ggC>ggA	p.G193G	FBXW5_ENST00000483559.1_5'UTR|C8G_ENST00000224181.3_5'Flank	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	193					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGAGCCAACAGCCAAACACGT	0.652																																																	0													47	31	36					9																	139837095		2191	4295	6486	SO:0001819	synonymous_variant	0			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.579C>A	9.37:g.139837095G>T			B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G193	ENST00000325285.3	37	c.579	CCDS7014.1	9																																																																																			FBXW5	-	superfamily_Quinoprot_gluc/sorb_DH	ENSG00000159069		0.652	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	HGNC	protein_coding	OTTHUMT00000055227.1	-	0	39	0	G	NM_018998		139837095	-1	tier1	-	no_errors	ENST00000325285	ensembl	human	known	74_37	silent	5.95	79	5	SNP	1.000	T	T	139837095	G	T	139837095	2	4	170	1	0	0	0	0	0	0	0	1	5790	958	34	3		3	FBXW5	9	139837095	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	427944	139837095	1376336	143	42814											
ABCA2	20	genome.wustl.edu	37	chr9	139915182	139915182	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgggctgcaggccggccCagagctgtacgaaggctgag	9	5	17	10	2	0	3	0	1	0	2	0	4	0	3	2	4	3	5	2	4	2	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:139915182C>T	ENST00000371605.3	-	8	1373	c.1226G>A	c.(1225-1227)tGg>tAg	p.W409*	ABCA2_ENST00000341511.6_Nonsense_Mutation_p.W410*|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000265662.5_Nonsense_Mutation_p.W410*			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	409					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)		CAGGCCGGCCCAGAGCTGTAC	0.687																																																	0													12	14	13					9																	139915182		1998	4117	6115	SO:0001587	stop_gained	0			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.1226G>A	9.37:g.139915182C>T	ENSP00000360666:p.Trp409*		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.W410*	ENST00000371605.3	37	c.1229		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.587415|8.587415	0.98875|0.98875	.|.	.|.	ENSG00000107331|ENSG00000107331	ENST00000470535|ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.|.	.|.	.|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|3.669520	.|0.01298	.|U	.|0.010223	T|.	0.34077|.	0.0885|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22208|.	-1.0223|.	3|.	.|0.02654	.|T	.|1	.|.	17.9737|17.9737	0.89120|0.89120	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	26|410;409;440;410	.|.	.|ENSP00000265662:W410X	G|W	-|-	1|2	0|0	ABCA2|ABCA2	139035003|139035003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	5.724000|5.724000	0.68500|0.68500	2.239000|2.239000	0.73571|0.73571	0.462000|0.462000	0.41574|0.41574	GGG|TGG	ABCA2	-	NULL	ENSG00000107331		0.687	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		-	0	57	0	C	NM_001606		139915182	-1	tier1	-	no_errors	ENST00000265662	ensembl	human	known	74_37	nonsense	15.91	74	14	SNP	1.000	T	T	139915182	C	T	139915182	4	4	170	1	0	0	0	0	0	1	0	0	32	595	21	3	6245	3	ABCA2	9	139915182	Nonsense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	78087	139915182	1298249	144	42815											
EHMT1	79813	genome.wustl.edu	37	chr9	140638394	140638394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcagcctgcacgtgaatgGggagagcctggagatggact	10	6	16	9	1	0	3	0	1	0	2	0	6	0	4	2	4	4	2	2	4	1	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr9:140638394G>T	ENST00000460843.1	+	6	1049	c.1022G>T	c.(1021-1023)gGg>gTg	p.G341V	EHMT1_ENST00000462484.1_Missense_Mutation_p.G341V|EHMT1_ENST00000334856.6_Missense_Mutation_p.G310V|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	341					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CACGTGAATGGGGAGAGCCTG	0.622																																																	0													46	40	42					9																	140638394		2203	4300	6503	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1022G>T	9.37:g.140638394G>T	ENSP00000417980:p.Gly341Val		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.G341V	ENST00000460843.1	37	c.1022	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232725	0.79688	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.45276	0.9;0.9;0.9	5.42	5.42	0.78866	.	0.051656	0.85682	D	0.000000	T	0.65417	0.2689	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.67929	-0.5543	10	0.87932	D	0	.	19.214	0.93768	0.0:0.0:1.0:0.0	.	341;310;341	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	V	310;310;341;341	ENSP00000334476:G310V;ENSP00000417328:G341V;ENSP00000417980:G341V	ENSP00000334476:G310V	G	+	2	0	EHMT1	139758215	1.000000	0.71417	0.989000	0.46669	0.589000	0.36550	7.840000	0.86819	2.539000	0.85634	0.561000	0.74099	GGG	EHMT1	-	NULL	ENSG00000181090		0.622	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	-	0	62	0	G	NM_024757		140638394	1	tier1	-	no_errors	ENST00000460843	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	T	T	140638394	G	T	140638394	3	4	170	1	0	0	0	0	1	0	0	0	4997	1232	43	3	1044	3	EHMT1	9	140638394	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	723212	140638394	575037	145	42816											
IDI1	3422	genome.wustl.edu	37	chr10	1088605	1088605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attcctagctcagctttcagCcgtctctgtgctgctcgcct	4	14	8	15	2	3	0	2	0	1	0	6	0	4	0	3	0	5	4	3	0	1	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr10:1088605C>T	ENST00000381344.3	-	4	670	c.504G>A	c.(502-504)cgG>cgA	p.R168R	RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI1_ENST00000491735.1_5'UTR	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	111	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		CAGCTTTCAGCCGTCTCTGTG	0.448																																																	0													101	91	95					10																	1088605		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"IPP isomerase"	604055	"isopentenyl-diphosphate delta isomerase"			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.504G>A	10.37:g.1088605C>T			B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.R168	ENST00000381344.3	37	c.504	CCDS7056.1	10																																																																																			IDI1	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	ENSG00000067064		0.448	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI1	HGNC	protein_coding	OTTHUMT00000046409.2		0	68	0	C	NM_004508		1088605	-1			no_errors	ENST00000381344	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.635	T	T	1088605	C	T	1088605	2	4	170	1	0	0	0	0	0	0	0	1	7526	726	26	3		3	IDI1	10	1088605	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09		1088605	134446142	146	42817											
CAMK1D	57118	genome.wustl.edu	37	chr10	12811688	12811688	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagcccgaaaatctcttgtActacagtcaagatgaggagt	13	10	9	9	1	2	2	1	1	1	1	3	4	2	3	1	1	3	1	1	1	6	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr10:12811688A>C	ENST00000378847.3	+	5	792	c.455A>C	c.(454-456)tAc>tCc	p.Y152S	CAMK1D_ENST00000378845.1_Missense_Mutation_p.Y152S	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	152	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)		AATCTCTTGTACTACAGTCAA	0.393																																																	0													107	95	99					10																	12811688		2203	4300	6503	SO:0001583	missense	0			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.455A>C	10.37:g.12811688A>C	ENSP00000368124:p.Tyr152Ser		B0YIY0|Q9HD31	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y152S	ENST00000378847.3	37	c.455	CCDS7091.1	10	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898939	0.72754	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.64991	-0.13;-0.13	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.131690	0.52532	D	0.000064	T	0.73345	0.3575	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	T	0.76302	-0.3009	10	0.87932	D	0	-17.8056	14.227	0.65866	1.0:0.0:0.0:0.0	.	152;152	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	S	152	ENSP00000368124:Y152S;ENSP00000368122:Y152S	ENSP00000368122:Y152S	Y	+	2	0	CAMK1D	12851694	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	9.335000	0.96500	1.945000	0.56424	0.459000	0.35465	TAC	CAMK1D	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000183049		0.393	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1D	HGNC	protein_coding	OTTHUMT00000046820.1	-	0	67	0	A	NM_020397		12811688	1	tier1	-	no_errors	ENST00000378847	ensembl	human	known	74_37	missense	46.55	31	27	SNP	1.000	C	C	12811688	A	C	12811688	3	2	170	1	0	0	0	0	1	0	0	0	2604	391	14	4	473	4	CAMK1D	10	12811688	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	11723083	12811688	122723059	147	42818											
ITGA8	8516	genome.wustl.edu	37	chr10	15719594	15719594	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctgccaacagaacataccttGccagtagaaactcccaggtc	13	7	7	14	0	0	2	0	0	0	2	2	2	1	2	4	1	6	1	4	1	5	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr10:15719594G>T	ENST00000378076.3	-	6	1026	c.673C>A	c.(673-675)Caa>Aaa	p.Q225K		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	225					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						AACATACCTTGCCAGTAGAAA	0.368																																																	0													121	113	116					10																	15719594		2203	4300	6503	SO:0001583	missense	0			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.673C>A	10.37:g.15719594G>T	ENSP00000367316:p.Gln225Lys		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q225K	ENST00000378076.3	37	c.673	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.085426	0.94100	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.53857	0.6	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.83118	2.625	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.69206	-0.5206	10	0.10377	T	0.69	.	19.582	0.95471	0.0:0.0:1.0:0.0	.	225;225	F5H818;P53708	.;ITA8_HUMAN	K	225	ENSP00000367316:Q225K	ENSP00000367316:Q225K	Q	-	1	0	ITGA8	15759600	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	2.638000	0.89438	0.557000	0.71058	CAA	ITGA8	-	smart_Int_alpha_beta-p	ENSG00000077943		0.368	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	-	0	113	0	G	NM_003638		15719594	-1	tier1	-	no_errors	ENST00000378076	ensembl	human	known	74_37	missense	31.43	48	22	SNP	1.000	T	T	15719594	G	T	15719594	3	4	170	1	0	0	0	0	1	0	0	0	7909	1328	46	3	2618	3	ITGA8	10	15719594	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	2907906	15719594	119815153	148	42819											
MRC1	4360	genome.wustl.edu	37	chr10	17865242	17865242	+	Silent	SNP	G	G	T	0	0	1	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	tttaaattatgcctgggagtGccatcaaaaacggactgggt	12	11	11	7	1	1	0	1	0	0	0	1	2	1	2	2	3	3	0	2	3	5	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr10:17865242G>T	ENST00000331429.2	+	2	334	c.231G>T	c.(229-231)gtG>gtT	p.V77V	MRC1L1_ENST00000457317.1_Silent_p.V77V																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCCTGGGAGTGCCATCAAAAA	0.443																																																	0													174	174	174					10																	17865242		2034	3972	6006	SO:0001819	synonymous_variant	0																														ENST00000331429.2:c.231G>T	10.37:g.17865242G>T				Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.V77	ENST00000331429.2	37	c.231		10																																																																																			MRC1L1	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000183748		0.443	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	101928757	Clone_based_vega_gene	protein_coding	OTTHUMT00000047054.1	-	0	183	0	G			17865242	1	tier1	-	no_errors	ENST00000457317	ensembl	human	known	74_37	silent	17.97	105	23	SNP	0.637	T	T	17865242	G	T	17865242	2	4	170	1	0	0	0	0	0	0	0	1	9794	1306	46	3		3	MRC1	10	17865242	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	2145648	17865242	117669505	149	42820											
ZNF438	220929	genome.wustl.edu	37	chr10	31138755	31138755	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcacttccattggtcagCgcagctgtgctaatgctggc	6	12	12	11	1	2	0	2	0	0	0	3	0	3	0	1	3	4	4	1	3	1	3	rs568845590		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr10:31138755C>T	ENST00000361310.3	-	6	908	c.579G>A	c.(577-579)gcG>gcA	p.A193A	ZNF438_ENST00000442986.1_Silent_p.A193A|ZNF438_ENST00000413025.1_Silent_p.A193A|ZNF438_ENST00000331737.6_Silent_p.A183A|ZNF438_ENST00000444692.2_Silent_p.A183A|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000538351.2_Silent_p.A144A|ZNF438_ENST00000436087.2_Silent_p.A193A|ZNF438_ENST00000452305.1_Silent_p.A183A			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	193					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)				CATTGGTCAGCGCAGCTGTGC	0.567																																																	0													146	132	137					10																	31138755		2203	4300	6503	SO:0001819	synonymous_variant	0			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.579G>A	10.37:g.31138755C>T			A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A193	ENST00000361310.3	37	c.579	CCDS7168.1	10																																																																																			ZNF438	-	NULL	ENSG00000183621		0.567	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1	-	0	39	0	C	NM_182755		31138755	-1	tier1	-	no_errors	ENST00000361310	ensembl	human	known	74_37	silent	29.27	29	12	SNP	0.000	T	T	31138755	C	T	31138755	2	4	170	1	0	0	0	0	0	0	0	1	17958	755	27	1		1	ZNF438	10	31138755	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	13273513	31138755	104395992	150	42821											
OGDHL	55753	genome.wustl.edu	37	chr10	50946061	50946061	+	Missense_Mutation	SNP	T	T	A	0	1	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	gttggccggtgtggagcagtTgaccacgatccagttgcagt	7	10	15	9	2	0	1	0	1	0	0	1	3	1	2	3	3	2	5	3	3	0	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr10:50946061T>A	ENST00000374103.4	-	19	2534	c.2449A>T	c.(2449-2451)Aac>Tac	p.N817Y	OGDHL_ENST00000432695.1_Missense_Mutation_p.N608Y|OGDHL_ENST00000419399.1_Missense_Mutation_p.N760Y|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	817					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GTGGAGCAGTTGACCACGATC	0.622																																																	0													254	234	241					10																	50946061		2203	4300	6503	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2449A>T	10.37:g.50946061T>A	ENSP00000363216:p.Asn817Tyr		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.N817Y	ENST00000374103.4	37	c.2449	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029746	0.54790	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.91407	-2.84;-2.84;-2.84	4.84	4.84	0.62591	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.93298	0.7864	L	0.58925	1.835	0.80722	D	1	D;D;D	0.63046	0.99;0.99;0.992	D;D;D	0.70935	0.934;0.944;0.971	D	0.91866	0.5503	10	0.27082	T	0.32	.	14.424	0.67202	0.0:0.0:0.0:1.0	.	760;608;817	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	Y	817;760;608	ENSP00000363216:N817Y;ENSP00000401356:N760Y;ENSP00000390240:N608Y	ENSP00000363216:N817Y	N	-	1	0	OGDHL	50616067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.000000	0.88501	1.804000	0.52760	0.528000	0.53228	AAC	OGDHL	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000197444		0.622	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	-	0	47	0	T	NM_018245		50946061	-1	tier1	-	no_errors	ENST00000374103	ensembl	human	known	74_37	missense	18.75	25	6	SNP	1.000	A	A	50946061	T	A	50946061	3	1	170	1	0	0	0	0	1	0	0	0	10879	1812	63	5	603	5	OGDHL	10	50946061	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	19807306	50946061	84588686	151	42822											
LRRTM3	347731	genome.wustl.edu	37	chr10	68687865	68687865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaaaccccctttgcccccGacggtgggagccacagagcc	9	4	11	17	2	0	1	0	0	0	1	0	3	0	2	6	2	5	1	6	2	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr10:68687865G>A	ENST00000361320.4	+	2	1769	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	397					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTTTGCCCCCGACGGTGGGAG	0.607																																																	0													43	47	45					10																	68687865		2203	4300	6503	SO:0001819	synonymous_variant	0			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1191G>A	10.37:g.68687865G>A			A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.P397	ENST00000361320.4	37	c.1191	CCDS7270.1	10																																																																																			LRRTM3	-	NULL	ENSG00000198739		0.607	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2	-	0	38	0	G	NM_178011		68687865	1	tier1	-	no_errors	ENST00000361320	ensembl	human	known	74_37	silent	18.75	26	6	SNP	0.997	A	A	68687865	G	A	68687865	2	1	170	1	0	0	0	0	0	0	0	1	9076	1045	37	1		1	LRRTM3	10	68687865	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	17741804	68687865	66846882	152	42823											
MMRN2	79812	genome.wustl.edu	37	chr10	88703785	88703785	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcctgggtaaggctgtgCaggctttggttaaagctcct	7	12	14	8	0	0	0	0	0	0	0	1	0	1	0	2	5	2	6	2	5	3	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr10:88703785C>T	ENST00000372027.5	-	6	1077	c.756G>A	c.(754-756)ctG>ctA	p.L252L	MMRN2_ENST00000488950.1_5'UTR	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	252					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						TAAGGCTGTGCAGGCTTTGGT	0.572																																																	0													67	59	62					10																	88703785		2203	4300	6503	SO:0001819	synonymous_variant	0			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.756G>A	10.37:g.88703785C>T			Q504V7|Q6P2N2	Silent	SNP	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain	p.L252	ENST00000372027.5	37	c.756	CCDS7379.1	10																																																																																			MMRN2	-	NULL	ENSG00000173269		0.572	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	HGNC	protein_coding	OTTHUMT00000049179.2	-	0	52	0	C	NM_024756		88703785	-1	tier1	-	no_errors	ENST00000372027	ensembl	human	known	74_37	silent	9.68	28	3	SNP	0.999	T	T	88703785	C	T	88703785	2	4	170	1	0	0	0	0	0	0	0	1	9709	697	25	3		3	MMRN2	10	88703785	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	20015920	88703785	46830962	153	42824											
CUTC	51076	genome.wustl.edu	37	chr10	101515475	101515475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtaaggactttgaatgctatCgcaaagaacatcctggtgta	13	11	10	7	1	0	2	0	1	0	1	2	3	1	3	1	2	2	4	1	2	6	4	rs370349081		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr10:101515475C>G	ENST00000370476.5	+	9	930	c.801C>G	c.(799-801)atC>atG	p.I267M		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	267					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)	p.I267I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		TGAATGCTATCGCAAAGAACA	0.413																																																	1	Substitution - coding silent(1)	large_intestine(1)											84	80	82					10																	101515475		2203	4300	6503	SO:0001583	missense	0			AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"cutC copper transporter homolog (E. coli)"			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.801C>G	10.37:g.101515475C>G	ENSP00000359507:p.Ile267Met		Q5TCZ8|Q9Y321	Missense_Mutation	SNP	pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom	p.I267M	ENST00000370476.5	37	c.801	CCDS7483.1	10	.	.	.	.	.	.	.	.	.	.	c	12.99	2.104283	0.37145	.	.	ENSG00000119929	ENST00000370476	.	.	.	5.55	3.19	0.36642	Copper homeostasis CutC domain (2);	0.047733	0.85682	D	0.000000	T	0.35653	0.0939	L	0.41961	1.31	0.50632	D	0.999885	P	0.47350	0.894	B	0.40982	0.345	T	0.12477	-1.0546	9	0.49607	T	0.09	-16.3099	6.1705	0.20414	0.0:0.1439:0.1336:0.7225	.	267	Q9NTM9	CUTC_HUMAN	M	267	.	ENSP00000359507:I267M	I	+	3	3	CUTC	101505465	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	0.758000	0.26447	0.927000	0.37143	-0.385000	0.06624	ATC	CUTC	-	superfamily_Cu_homeostasis_CutC_dom	ENSG00000119929		0.413	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUTC	HGNC	protein_coding	OTTHUMT00000049811.1		0	48	0	C	NM_015960		101515475	1			no_errors	ENST00000370476	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	G	G	101515475	C	G	101515475	3	3	170	1	0	0	0	0	1	0	0	0	4072	874	31	5	835	5	CUTC	10	101515475	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	12811690	101515475	34019272	154	42825											
KCNIP2	30819	genome.wustl.edu	37	chr10	103587412	103587412	+	Intron	SNP	A	A	G	1	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	actaaatcaggcctgagtccAggtcagggtaatgtagaggg	12	8	14	7	0	2	2	2	1	0	1	3	2	3	2	2	4	0	2	2	4	4	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr10:103587412A>G	ENST00000356640.2	-	9	1041				KCNIP2_ENST00000358038.3_Intron|KCNIP2_ENST00000461105.1_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000348850.5_Intron|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_Intron|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000370046.1_Intron	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2						clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		GCCTGAGTCCAGGTCAGGGTA	0.473																																																	0													119	96	104					10																	103587412		2203	4300	6503	SO:0001627	intron_variant	0				CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"EF-hand domain containing"	15522	protein-coding gene	gene with protein product		604661	"Kv channel-interacting protein 2"			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.765+33T>C	10.37:g.103587412A>G			A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.W181R	ENST00000356640.2	37	c.541	CCDS7522.1	10	.	.	.	.	.	.	.	.	.	.	A	0.112	-1.136870	0.01742	.	.	ENSG00000120049	ENST00000239117	T	0.66280	-0.2	4.4	3.25	0.37280	.	.	.	.	.	T	0.70395	0.3219	.	.	.	0.26690	N	0.971373	B;D	0.55605	0.0;0.972	B;P	0.59643	0.0;0.861	T	0.59643	-0.7416	8	0.54805	T	0.06	.	8.3597	0.32351	0.8248:0.0:0.0:0.1752	.	181;222	Q9NS61-9;B4DW99	.;.	R	181	ENSP00000239117:W181R	ENSP00000239117:W181R	W	-	1	0	KCNIP2	103577402	0.001000	0.12720	0.052000	0.19188	0.081000	0.17604	0.376000	0.20535	0.826000	0.34661	-0.728000	0.03583	TGG	KCNIP2	-	NULL	ENSG00000120049		0.473	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	KCNIP2	HGNC	protein_coding	OTTHUMT00000049973.1	-	0	60	0	A			103587412	-1	tier1	-	no_errors	ENST00000239117	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.060	G	G	103587412	A	G	103587412	1	3	170	0	1	0	0	0	0	0	0	0	8067	188	7	4		4	KCNIP2	10	103587412	Intron	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	2071937	103587412	31947335	155	42826											
DMBT1	1755	genome.wustl.edu	37	chr10	124352022	124352022	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggatgatgtgcgctgctcagGacacgagtcctacctgtgga	8	9	14	10	2	1	1	1	1	0	0	2	5	2	4	2	3	3	2	2	3	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr10:124352022G>C	ENST00000338354.3	+	20	2517	c.2411G>C	c.(2410-2412)gGa>gCa	p.G804A	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.G794A|DMBT1_ENST00000344338.3_Missense_Mutation_p.G794A|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G804A			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	804	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGCTGCTCAGGACACGAGTCC	0.622																																					Ovarian(182;93 2026 18125 22222 38972)												0													149	109	122					10																	124352022		2025	4116	6141	SO:0001583	missense	0				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.2411G>C	10.37:g.124352022G>C	ENSP00000342210:p.Gly804Ala		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.G804A	ENST00000338354.3	37	c.2411		10	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414550	0.25465	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	3.9	2.97	0.34412	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	D	0.87414	0.6171	H	0.94886	3.595	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.996;0.997	D;P;P;D	0.91635	0.999;0.904;0.904;0.942	D	0.90011	0.4121	9	0.87932	D	0	.	13.5114	0.61515	0.0:0.1582:0.8418:0.0	.	565;804;794;804	Q9UGM3-4;Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	A	804;804;804;804;804;804;794;804;794	ENSP00000342210:G804A;ENSP00000343175:G794A;ENSP00000357905:G804A;ENSP00000357951:G794A	ENSP00000342210:G804A	G	+	2	0	DMBT1	124342012	1.000000	0.71417	0.202000	0.23494	0.029000	0.11900	9.247000	0.95444	0.717000	0.32145	0.563000	0.77884	GGA	DMBT1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000187908		0.622	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	-	0	169	0	G	NM_004406		124352022	1	tier1	-	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	12.63	165	24	SNP	0.988	C	C	124352022	G	C	124352022	3	2	170	1	0	0	0	0	1	0	0	0	4591	1174	41	5	2489	5	DMBT1	10	124352022	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	20764610	124352022	11182725	156	42827											
INPP5A	3632	genome.wustl.edu	37	chr10	134563044	134563044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcacaaaagccaccatGcagacggtccgggccgccga	10	4	11	16	4	1	1	0	0	1	1	2	2	2	1	5	2	3	2	5	2	2	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr10:134563044G>T	ENST00000368594.3	+	10	1033	c.756G>T	c.(754-756)atG>atT	p.M252I	INPP5A_ENST00000368593.3_Missense_Mutation_p.M252I	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	252					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AAGCCACCATGCAGACGGTCC	0.622																																					Pancreas(63;823 1267 11107 20380 51626)												0													60	57	58					10																	134563044		2201	4299	6500	SO:0001583	missense	0			X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.756G>T	10.37:g.134563044G>T	ENSP00000357583:p.Met252Ile		D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.M252I	ENST00000368594.3	37	c.756	CCDS7669.2	10	.	.	.	.	.	.	.	.	.	.	G	8.653	0.898753	0.17686	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000432898	T;T	0.39787	1.06;1.06	5.1	3.17	0.36434	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.038892	0.85682	D	0.000000	T	0.28732	0.0712	L	0.29908	0.895	0.47511	D	0.999446	B;B	0.09022	0.001;0.002	B;B	0.14578	0.002;0.011	T	0.06570	-1.0819	10	0.20519	T	0.43	-8.1144	11.3812	0.49759	0.072:0.1284:0.7997:0.0	.	252;252	Q14642;Q5T1B5	I5P1_HUMAN;.	I	252;252;169	ENSP00000357583:M252I;ENSP00000357582:M252I	ENSP00000357582:M252I	M	+	3	0	INPP5A	134413034	1.000000	0.71417	0.998000	0.56505	0.103000	0.19146	6.879000	0.75572	1.259000	0.44117	0.655000	0.94253	ATG	INPP5A	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000068383		0.622	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5A	HGNC	protein_coding	OTTHUMT00000051085.1	-	0	53	0	G	NM_005539		134563044	1	tier1	-	no_errors	ENST00000368594	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	134563044	G	T	134563044	3	4	170	1	0	0	0	0	1	0	0	0	7781	1319	46	3	794	3	INPP5A	10	134563044	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	10211022	134563044	971703	157	42828											
OR51I2	390064	genome.wustl.edu	37	chr11	5475294	5475294	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcttgcctgtgctgatatCagtatcaacagcatctatgg	10	12	10	9	0	3	1	2	1	1	0	3	1	3	1	1	2	4	4	1	2	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:5475294C>T	ENST00000341449.2	+	1	657	c.576C>T	c.(574-576)atC>atT	p.I192I	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	192					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)		GTGCTGATATCAGTATCAACA	0.448																																																	0													311	267	282					11																	5475294		2201	4297	6498	SO:0001819	synonymous_variant	0			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.576C>T	11.37:g.5475294C>T			Q6IF81	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I192	ENST00000341449.2	37	c.576	CCDS31383.1	11																																																																																			OR51I2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000187918		0.448	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I2	HGNC	protein_coding	OTTHUMT00000143385.1	-	0	70	0	C	NM_001004754		5475294	1	tier1	-	no_errors	ENST00000341449	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.189	T	T	5475294	C	T	5475294	2	4	170	1	0	0	0	0	0	0	0	1	11140	816	29	3		3	OR51I2	11	5475294	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09		5475294	129531222	158	42829											
UEVLD	55293	genome.wustl.edu	37	chr11	18566293	18566293	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatccaattccgatcactcGatttgcaggaaatgtactca	13	11	6	11	2	2	0	2	0	0	0	5	3	4	1	2	1	2	2	2	1	3	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:18566293G>A	ENST00000541984.1	-	6	528	c.466C>T	c.(466-468)Cga>Tga	p.R156*	UEVLD_ENST00000535484.1_Nonsense_Mutation_p.R275*|UEVLD_ENST00000543987.1_Nonsense_Mutation_p.R313*|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000320750.6_Nonsense_Mutation_p.R291*|UEVLD_ENST00000379387.4_Nonsense_Mutation_p.R291*|UEVLD_ENST00000396197.3_Nonsense_Mutation_p.R313*	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						CCGATCACTCGATTTGCAGGA	0.323																																																	0													120	112	114					11																	18566293		2199	4293	6492	SO:0001587	stop_gained	0			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.466C>T	11.37:g.18566293G>A	ENSP00000437538:p.Arg156*			Nonsense_Mutation	SNP	pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	p.R313*	ENST00000541984.1	37	c.937	CCDS58125.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.897307	0.97081	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110;ENST00000541984	.	.	.	5.53	4.59	0.56863	.	0.442567	0.24823	N	0.035315	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7315	13.4433	0.61125	0.0:0.0:0.645:0.355	.	.	.	.	X	313;275;313;291;291;90;156	.	ENSP00000323353:R291X	R	-	1	2	UEVLD	18522869	0.995000	0.38212	0.970000	0.41538	0.983000	0.72400	4.882000	0.63121	1.278000	0.44430	0.650000	0.86243	CGA	UEVLD	-	pfam_Lactate/malate_DH_N	ENSG00000151116		0.323	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	UEVLD	HGNC	protein_coding	OTTHUMT00000395928.1		0	29	0	G	NM_018314		18566293	-1			no_errors	ENST00000396197	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.991	A	A	18566293	G	A	18566293	4	1	170	1	0	0	0	0	0	1	0	0	16982	1066	37	1	494	1	UEVLD	11	18566293	Nonsense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	13090999	18566293	116440223	159	42830											
LIN7C	55327	genome.wustl.edu	37	chr11	27523450	27523450	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtagtttttccaataattCaattgctctacaaatatcta	13	18	3	7	0	3	0	1	0	2	0	4	0	4	0	1	0	2	3	1	0	8	10			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:27523450C>G	ENST00000278193.2	-	2	75	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	LIN7C_ENST00000524596.1_Missense_Mutation_p.E19Q	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	19	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				exocytosis (GO:0006887)|morphogenesis of an epithelial sheet (GO:0002011)|neurotransmitter secretion (GO:0007269)|protein transport (GO:0015031)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|MPP7-DLG1-LIN7 complex (GO:0097025)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|L27 domain binding (GO:0097016)|protein domain specific binding (GO:0019904)			endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCCAATAATTCAATTGCTCTA	0.388																																																	0													83	80	81					11																	27523450		2201	4298	6499	SO:0001583	missense	0			AK002077	CCDS7864.1	11p14	2008-07-18				ENSG00000148943			17789	protein-coding gene	gene with protein product	"LIN-7 protein 3"	612332				10341223	Standard	NM_018362		Approved	MALS-3, Lin7c, LIN-7C, LIN-7-C, VELI3, FLJ11215	uc001mrl.3	Q9NUP9		ENST00000278193.2:c.55G>C	11.37:g.27523450C>G	ENSP00000278193:p.Glu19Gln			Missense_Mutation	SNP	pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.E19Q	ENST00000278193.2	37	c.55	CCDS7864.1	11	.	.	.	.	.	.	.	.	.	.	C	19.15	3.770989	0.69992	.	.	ENSG00000148943	ENST00000278193;ENST00000524596	T;T	0.22336	2.2;1.96	5.6	5.6	0.85130	L27, C-terminal (1);L27 (2);	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.70595	2.14	0.80722	D	1	B;B	0.20780	0.017;0.048	B;B	0.27380	0.026;0.079	T	0.06770	-1.0808	10	0.51188	T	0.08	.	19.9664	0.97271	0.0:1.0:0.0:0.0	.	19;19	G3V1D4;Q9NUP9	.;LIN7C_HUMAN	Q	19	ENSP00000278193:E19Q;ENSP00000435353:E19Q	ENSP00000278193:E19Q	E	-	1	0	LIN7C	27480026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.788000	0.95919	0.655000	0.94253	GAA	LIN7C	-	pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27	ENSG00000148943		0.388	LIN7C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7C	HGNC	protein_coding	OTTHUMT00000388311.2	-	0	76	0	C	NM_018362		27523450	-1	tier1	-	no_errors	ENST00000278193	ensembl	human	known	74_37	missense	7.32	114	9	SNP	1.000	G	G	27523450	C	G	27523450	3	3	170	1	0	0	0	0	1	0	0	0	8842	835	29	5	554	5	LIN7C	11	27523450	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	8957157	27523450	107483066	160	42831											
PAMR1	25891	genome.wustl.edu	37	chr11	35489551	35489551	+	Frame_Shift_Del	DEL	T	T	-																															cttaggaagcatactcacgaTtttcacagcgctgcccagta																										TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:35489551delT	ENST00000378880.2	-	6	1263	c.818delA	c.(817-819)aatfs	p.N273fs	PAMR1_ENST00000378878.3_Frame_Shift_Del_p.N162fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.N273fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.N233fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	273						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						ATACTCACGATTTTCACAGCG	0.507																																																	0													76	44	55					11																	35489551		2197	4284	6481	SO:0001589	frameshift_variant	0				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.818delA	11.37:g.35489551delT	ENSP00000368158:p.Asn273fs		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.N273fs	ENST00000378880.2	37	c.818	CCDS31460.1	11																																																																																			PAMR1	-	NULL	ENSG00000149090		0.507	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1		0	22	0	T	NM_015430		35489551	-1	tier1		no_errors	ENST00000278360	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	0.733	-	-	35489551	T	-	35489551	7	5	170	1	0	1	0	1	0	0	0	0	11452	1493	52	0	1423	0	PAMR1	11	35489551	Frame_Shift_Del	DEL	T	TCGA-VR-A8EZ-01A-11D-A36J-09	7966101	35489551	99516965	161	42832											
CHRM4	1132	genome.wustl.edu	37	chr11	46407570	46407570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcactggttgtcgggcaCcgtccgcttacccaccacaa	9	7	10	15	3	0	0	0	0	0	0	2	1	1	0	4	2	2	4	4	2	3	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:46407570C>A	ENST00000433765.2	-	1	537	c.538G>T	c.(538-540)Gtg>Ttg	p.V180L		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	180					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTGTCGGGCACCGTCCGCTTA	0.577																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)												0													38	43	41					11																	46407570		2164	4286	6450	SO:0001583	missense	0			M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.538G>T	11.37:g.46407570C>A	ENSP00000409378:p.Val180Leu		B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt	p.V180L	ENST00000433765.2	37	c.538	CCDS44581.1	11	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771463	0.69992	.	.	ENSG00000180720	ENST00000433765	T	0.36878	1.23	5.04	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.43166	0.1235	L	0.51914	1.62	0.51767	D	0.999934	P	0.37370	0.592	P	0.45276	0.475	T	0.47636	-0.9102	9	0.87932	D	0	-17.8262	15.3356	0.74250	0.0:0.8597:0.1403:0.0	.	180	P08173	ACM4_HUMAN	L	180	ENSP00000409378:V180L	ENSP00000409378:V180L	V	-	1	0	CHRM4	46364146	1.000000	0.71417	0.055000	0.19348	0.789000	0.44602	5.883000	0.69721	1.285000	0.44548	0.462000	0.41574	GTG	CHRM4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180720		0.577	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM4	HGNC	protein_coding	OTTHUMT00000334985.1	-	0	47	0	C	NM_000741		46407570	-1	tier1	-	no_errors	ENST00000433765	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.997	A	A	46407570	C	A	46407570	3	1	170	1	0	0	0	0	1	0	0	0	3386	507	18	3	905	3	CHRM4	11	46407570	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	10918019	46407570	88598946	162	42833											
LRP4	4038	genome.wustl.edu	37	chr11	46911003	46911003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatcttgcggaagccagtgGggcaggcacaggtgtagttc	8	9	16	8	1	1	1	0	1	1	0	2	2	1	2	1	5	2	4	1	5	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:46911003G>T	ENST00000378623.1	-	16	2416	c.2174C>A	c.(2173-2175)cCc>cAc	p.P725H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	725	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)		GAAGCCAGTGGGGCAGGCACA	0.607											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													87	85	86					11																	46911003		2201	4299	6500	SO:0001583	missense	0			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.2174C>A	11.37:g.46911003G>T	ENSP00000367888:p.Pro725His	942	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P725H	ENST00000378623.1	37	c.2174	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.170836	0.94807	.	.	ENSG00000134569	ENST00000378623	D	0.89617	-2.54	5.53	5.53	0.82687	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94102	0.8109	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94325	0.7557	10	0.87932	D	0	.	19.4728	0.94969	0.0:0.0:1.0:0.0	.	725	O75096	LRP4_HUMAN	H	725	ENSP00000367888:P725H	ENSP00000367888:P725H	P	-	2	0	LRP4	46867579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.439000	0.97543	2.608000	0.88229	0.561000	0.74099	CCC	LRP4	-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000134569		0.607	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1		0	43	0	G	NM_002334		46911003	-1			no_errors	ENST00000378623	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	46911003	G	T	46911003	3	4	170	1	0	0	0	0	1	0	0	0	8994	1232	43	3	3635	3	LRP4	11	46911003	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	503433	46911003	88095513	163	42834											
OR5L2	26338	genome.wustl.edu	37	chr11	55594893	55594893	+	Missense_Mutation	SNP	T	T	C	0	1	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	actttttcctcagccacttgTcctttgtagatttctgctac	6	18	5	12	0	2	1	1	0	1	1	4	1	4	1	3	0	3	2	3	0	2	7			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:55594893T>C	ENST00000378397.1	+	1	199	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CAGCCACTTGTCCTTTGTAGA	0.473										HNSCC(27;0.073)																																							0													229	212	218					11																	55594893		2200	4296	6496	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.199T>C	11.37:g.55594893T>C	ENSP00000367650:p.Ser67Pro		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S67P	ENST00000378397.1	37	c.199	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	17.78	3.474119	0.63737	.	.	ENSG00000205030	ENST00000378397	T	0.12255	2.7	5.21	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000175	T	0.47021	0.1423	H	0.96175	3.78	0.33502	D	0.590103	D	0.67145	0.996	D	0.68039	0.955	T	0.71354	-0.4618	10	0.87932	D	0	-51.3289	11.8055	0.52152	0.0:0.0:0.1455:0.8545	.	67	Q8NGL0	OR5L2_HUMAN	P	67	ENSP00000367650:S67P	ENSP00000367650:S67P	S	+	1	0	OR5L2	55351469	0.000000	0.05858	1.000000	0.80357	0.956000	0.61745	-0.867000	0.04241	2.128000	0.65567	0.509000	0.49947	TCC	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000205030		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	-	0	75	0	T	NM_001004739		55594893	1	tier1	-	no_errors	ENST00000378397	ensembl	human	known	74_37	missense	29.33	53	22	SNP	1.000	C	C	55594893	T	C	55594893	3	2	170	1	0	0	0	0	1	0	0	0	11210	1667	58	4	201	4	OR5L2	11	55594893	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	8683890	55594893	79411623	164	42835											
OR5M3	219482	genome.wustl.edu	37	chr11	56237538	56237538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagaaaaccataaatgtaagGgaaagtaatcagtcgaatac	20	7	8	6	1	1	1	1	0	0	1	2	3	1	2	1	1	2	2	1	1	9	4	rs537773767		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:56237538G>T	ENST00000312240.2	-	1	476	c.436C>A	c.(436-438)Cct>Act	p.P146T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	146						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)					TAAATGTAAGGGAAAGTAATC	0.413																																																	0													108	99	102					11																	56237538		2201	4295	6496	SO:0001583	missense	0			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.436C>A	11.37:g.56237538G>T	ENSP00000312208:p.Pro146Thr		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P146T	ENST00000312240.2	37	c.436	CCDS31532.1	11	.	.	.	.	.	.	.	.	.	.	G	9.337	1.061912	0.19987	.	.	ENSG00000174937	ENST00000312240	T	0.35789	1.29	4.6	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000264	T	0.20414	0.0491	N	0.03999	-0.3	0.09310	N	1	P	0.39551	0.678	B	0.41619	0.361	T	0.10870	-1.0611	10	0.32370	T	0.25	-13.5292	12.7672	0.57399	0.0:0.0:0.8345:0.1655	.	146	Q8NGP4	OR5M3_HUMAN	T	146	ENSP00000312208:P146T	ENSP00000312208:P146T	P	-	1	0	OR5M3	55994114	0.000000	0.05858	0.997000	0.53966	0.416000	0.31233	0.182000	0.16900	1.128000	0.42052	0.478000	0.44815	CCT	OR5M3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174937		0.413	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	HGNC	protein_coding	OTTHUMT00000391639.1	-	0	55	0	G	NM_001004742		56237538	-1	tier1	-	no_errors	ENST00000312240	ensembl	human	known	74_37	missense	20.75	42	11	SNP	0.136	T	T	56237538	G	T	56237538	3	4	170	1	0	0	0	0	1	0	0	0	11214	1232	43	3	489	3	OR5M3	11	56237538	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	642645	56237538	78768978	165	42836											
TNKS1BP1	85456	genome.wustl.edu	37	chr11	57087724	57087724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	catcgtggttaaaggtgaggCgggaaccccacaggcggtcg	9	6	16	10	4	0	1	0	1	0	0	2	2	0	2	2	6	1	1	2	6	3	1	rs371562715		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:57087724C>T	ENST00000532437.1	-	2	868	c.557G>A	c.(556-558)cGc>cAc	p.R186H	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R186H			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	186	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.R186H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AAAGGTGAGGCGGGAACCCCA	0.642													C|||	1	0.000199681	0	0	5008	,	,		15542	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG	0,4402		0,0,2201	60	64	62		557	4.5	1	11		62	1,8591	1.2+/-3.3	0,1,4295	no	missense	TNKS1BP1	NM_033396.2	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	186/1730	57087724	1,12993	2201	4296	6497	SO:0001583	missense	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.557G>A	11.37:g.57087724C>T	ENSP00000437271:p.Arg186His		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.R186H	ENST00000532437.1	37	c.557	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258282	0.80246	0.0	1.16E-4	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.57107	0.42;0.42	4.47	4.47	0.54385	.	0.000000	0.33938	N	0.004413	T	0.57814	0.2079	N	0.24115	0.695	0.29641	N	0.844744	D	0.89917	1.0	D	0.85130	0.997	T	0.57579	-0.7787	10	0.72032	D	0.01	-14.7469	12.5151	0.56028	0.0:1.0:0.0:0.0	.	186	Q9C0C2	TB182_HUMAN	H	186	ENSP00000350990:R186H;ENSP00000437271:R186H	ENSP00000350990:R186H	R	-	2	0	TNKS1BP1	56844300	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.568000	0.53820	2.284000	0.76573	0.462000	0.41574	CGC	TNKS1BP1	-	NULL	ENSG00000149115		0.642	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1		0	43	0	C	NM_033396		57087724	-1			no_errors	ENST00000358252	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	57087724	C	T	57087724	3	4	170	1	0	0	0	0	1	0	0	0	16367	768	27	1	4668	1	TNKS1BP1	11	57087724	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	850186	57087724	77918792	166	42837											
GLYATL2	219970	genome.wustl.edu	37	chr11	58607019	58607019	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgttacctttatggattCagggatgctcttttctaagg	7	16	9	9	1	3	0	1	0	2	0	4	2	4	2	2	3	2	2	2	3	3	7			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:58607019C>A	ENST00000287275.1	-	2	457	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	GLYATL2_ENST00000533636.1_Intron|GLYATL2_ENST00000532258.1_Nonsense_Mutation_p.E23*	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	23						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTTATGGATTCAGGGATGCTC	0.433																																																	0													136	125	128					11																	58607019		1885	4108	5993	SO:0001587	stop_gained	0			AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.67G>T	11.37:g.58607019C>A	ENSP00000287275:p.Glu23*		A5LGC7|Q86WC3|Q96AT2	Nonsense_Mutation	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.E23*	ENST00000287275.1	37	c.67	CCDS41649.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.966309	0.97156	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	.	.	.	4.31	3.38	0.38709	.	0.241770	0.27636	U	0.018486	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	10.2693	0.43473	0.0:0.798:0.202:0.0	.	.	.	.	X	23	.	ENSP00000287275:E23X	E	-	1	0	GLYATL2	58363595	0.010000	0.17322	0.195000	0.23364	0.513000	0.34164	0.658000	0.24979	0.808000	0.34231	0.644000	0.83932	GAA	GLYATL2	-	pfam_Glycine_N-acyltransferase_N	ENSG00000156689		0.433	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYATL2	HGNC	protein_coding	OTTHUMT00000394599.1	-	0	43	0	C	NM_145016		58607019	-1	tier1	-	no_errors	ENST00000287275	ensembl	human	known	74_37	nonsense	14.93	57	10	SNP	0.537	A	A	58607019	C	A	58607019	4	1	170	1	0	0	0	0	0	1	0	0	6507	835	29	3	837	3	GLYATL2	11	58607019	Nonsense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	1519295	58607019	76399497	167	42838											
VWCE	220001	genome.wustl.edu	37	chr11	61048112	61048112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgtgcacgatgggcaGcacccaccatctctggaggg	8	7	12	14	1	2	0	1	0	1	0	3	2	2	1	3	3	2	3	3	3	0	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:61048112G>A	ENST00000335613.5	-	9	1694	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	436	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					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						ACGATGGGCAGCACCCACCAT	0.547																																																	0													109	89	96					11																	61048112		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1308C>T	11.37:g.61048112G>A			A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.C436	ENST00000335613.5	37	c.1308	CCDS8002.1	11																																																																																			VWCE	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	ENSG00000167992		0.547	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1	-	0	64	0	G	NM_152718		61048112	-1	tier1	-	no_errors	ENST00000335613	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	A	A	61048112	G	A	61048112	2	1	170	1	0	0	0	0	0	0	0	1	17294	963	34	3		3	VWCE	11	61048112	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	2441093	61048112	73958404	168	42839											
FTH1	2495	genome.wustl.edu	37	chr11	61732489	61732489	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tttttgtcagtggccagtttGtgcagttccagtagtgactg	6	16	12	7	0	1	1	1	1	0	0	2	1	2	1	2	1	1	4	2	1	1	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:61732489G>T	ENST00000273550.7	-	3	591	c.357C>A	c.(355-357)caC>caA	p.H119Q	FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.H89Q|FTH1_ENST00000532601.1_Missense_Mutation_p.H49Q|AP003733.1_ENST00000601917.1_5'Flank|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	119	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				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)	TGGCCAGTTTGTGCAGTTCCA	0.453																																																	0													203	193	196					11																	61732489		1870	4096	5966	SO:0001583	missense	0				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.357C>A	11.37:g.61732489G>T	ENSP00000273550:p.His119Gln		B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.H119Q	ENST00000273550.7	37	c.357	CCDS41655.1	11	.	.	.	.	.	.	.	.	.	.	.	21.6	4.179456	0.78564	.	.	ENSG00000167996	ENST00000273550;ENST00000406545;ENST00000526640;ENST00000532601;ENST00000529548	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.17	5.17	0.71159	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	T	0.82226	0.4991	H	0.97291	3.975	0.80722	D	1	P	0.43885	0.82	P	0.48454	0.578	D	0.88608	0.3154	10	0.87932	D	0	.	18.6542	0.91445	0.0:0.0:1.0:0.0	.	119	P02794	FRIH_HUMAN	Q	119;168;89;49;49	ENSP00000273550:H119Q;ENSP00000433321:H89Q;ENSP00000435111:H49Q;ENSP00000436947:H49Q	ENSP00000273550:H119Q	H	-	3	2	FTH1	61489065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.226000	0.51254	2.567000	0.86603	0.563000	0.77884	CAC	FTH1	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	ENSG00000167996		0.453	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTH1	HGNC	protein_coding	OTTHUMT00000388444.1		0	53	0	G	NM_002032		61732489	-1			no_errors	ENST00000273550	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	61732489	G	T	61732489	3	4	170	1	0	0	0	0	1	0	0	0	6106	1368	48	3	202	3	FTH1	11	61732489	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	684377	61732489	73274027	169	42840											
MACROD1	28992	genome.wustl.edu	37	chr11	63918714	63918714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcaggccagccactcaccggCgttgacgatggcgtccacct	7	7	11	16	4	2	1	2	1	0	0	3	2	3	1	5	3	1	1	5	3	0	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:63918714C>T	ENST00000255681.6	-	3	580	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	172	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.|Substrate binding. {ECO:0000250}.				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						CACTCACCGGCGTTGACGATG	0.612																																																	0													129	105	113					11																	63918714		2201	4297	6498	SO:0001583	missense	0			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.514G>A	11.37:g.63918714C>T	ENSP00000255681:p.Ala172Thr		Q9UH96	Missense_Mutation	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	p.A172T	ENST00000255681.6	37	c.514	CCDS8056.1	11	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585274	0.66105	.	.	ENSG00000133315	ENST00000255681	T	0.41065	1.01	3.86	3.86	0.44501	Appr-1-p processing (3);	0.000000	0.85682	D	0.000000	T	0.66645	0.2810	M	0.84511	2.7	0.54753	D	0.999989	D	0.71674	0.998	D	0.70227	0.968	T	0.74636	-0.3599	10	0.72032	D	0.01	.	14.9765	0.71277	0.0:1.0:0.0:0.0	.	172	Q9BQ69	MACD1_HUMAN	T	172	ENSP00000255681:A172T	ENSP00000255681:A172T	A	-	1	0	MACROD1	63675290	0.999000	0.42202	0.600000	0.28864	0.313000	0.28021	5.516000	0.67055	1.891000	0.54761	0.462000	0.41574	GCC	MACROD1	-	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	ENSG00000133315		0.612	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACROD1	HGNC	protein_coding	OTTHUMT00000396570.1		0	27	0	C	NM_014067		63918714	-1			no_errors	ENST00000255681	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.997	T	T	63918714	C	T	63918714	3	4	170	1	0	0	0	0	1	0	0	0	9181	768	27	1	495	1	MACROD1	11	63918714	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	2186225	63918714	71087802	170	42841											
CD248	57124	genome.wustl.edu	37	chr11	66082524	66082524	+	Silent	SNP	G	G	A	0	0	1	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	tgtgggagctggtgagggcaGccacagggccaacttgggac	8	6	18	9	0	0	1	0	1	0	0	0	3	0	3	2	5	3	2	2	5	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:66082524G>A	ENST00000311330.3	-	1	1991	c.1975C>T	c.(1975-1977)Ctg>Ttg	p.L659L	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	659	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GGTGAGGGCAGCCACAGGGCC	0.642																																																	0													31	34	33					11																	66082524		2197	4289	6486	SO:0001819	synonymous_variant	0			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1975C>T	11.37:g.66082524G>A			Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin	p.L659	ENST00000311330.3	37	c.1975	CCDS8134.1	11																																																																																			CD248	-	NULL	ENSG00000174807		0.642	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD248	HGNC	protein_coding	OTTHUMT00000392922.2		0	49	0	G	NM_020404		66082524	-1			no_errors	ENST00000311330	ensembl	human	known	74_37	silent	6.35	58	4	SNP	0.001	A	A	66082524	G	A	66082524	2	1	170	1	0	0	0	0	0	0	0	1	2996	962	34	3		3	CD248	11	66082524	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	2163810	66082524	68923992	171	42842											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103027455	103027455	+	Silent	SNP	G	G	A	0	0	1	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	attttcggccgtggagcattGccaaaagaacagacacgctt	12	9	10	10	3	0	2	0	0	0	2	1	3	0	3	2	2	3	2	2	2	3	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:103027455G>A	ENST00000375735.2	+	26	4227	c.4083G>A	c.(4081-4083)ttG>ttA	p.L1361L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L1361L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1361	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)		GTGGAGCATTGCCAAAAGAAC	0.358																																																	0													55	55	55					11																	103027455		1848	4089	5937	SO:0001819	synonymous_variant	0			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.4083G>A	11.37:g.103027455G>A			O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L1361	ENST00000375735.2	37	c.4083	CCDS53701.1	11																																																																																			DYNC2H1	-	pfam_Dynein_heavy_dom-2	ENSG00000187240		0.358	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	40	0	G	XM_370652		103027455	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.999	A	A	103027455	G	A	103027455	2	1	170	1	0	0	0	0	0	0	0	1	4860	1310	46	3		3	DYNC2H1	11	103027455	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	36944931	103027455	31979061	172	42843											
CASP1	834	genome.wustl.edu	37	chr11	104897037	104897037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaaagtcactctttcagtgGtgggcatctgcgctctacca	8	12	9	12	1	6	0	3	0	3	0	6	0	6	0	1	2	2	2	1	2	2	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:104897037G>T	ENST00000533400.1	-	9	1198	c.1163C>A	c.(1162-1164)aCc>aAc	p.T388N	CASP1_ENST00000446369.1_Missense_Mutation_p.T247N|CASP1_ENST00000531166.1_Missense_Mutation_p.T72N|CASP1_ENST00000527979.1_Missense_Mutation_p.T351N|CASP1_ENST00000598974.1_Missense_Mutation_p.T388N|CASP1_ENST00000393136.4_Missense_Mutation_p.T367N|CASP1_ENST00000415981.2_Missense_Mutation_p.T72N|CASP1_ENST00000534497.1_Missense_Mutation_p.T247N|CASP1_ENST00000594519.1_Missense_Mutation_p.T247N|CASP1_ENST00000526568.1_Missense_Mutation_p.T295N|CASP1_ENST00000436863.3_Missense_Mutation_p.T388N|CASP1_ENST00000593315.1_Missense_Mutation_p.T367N|CASP1_ENST00000525825.1_Missense_Mutation_p.T367N|CASP1_ENST00000353247.5_Missense_Mutation_p.T72N	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	388					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCTTTCAGTGGTGGGCATCTG	0.408																																					NSCLC(41;1246 1743 4934)												0													92	91	91					11																	104897037		2202	4299	6501	SO:0001583	missense	0			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1163C>A	11.37:g.104897037G>T	ENSP00000433138:p.Thr388Asn		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.T388N	ENST00000533400.1	37	c.1163	CCDS8330.1	11	.	.	.	.	.	.	.	.	.	.	.	13.63	2.295040	0.40594	.	.	ENSG00000137752	ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	T;T;T;T;T;T;T;T;T;T;T	0.44881	2.11;2.11;2.11;2.11;2.11;0.91;2.11;2.11;2.11;2.11;0.91	4.2	4.2	0.49525	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.111571	0.64402	D	0.000013	T	0.67674	0.2918	M	0.87180	2.865	0.43977	D	0.996662	D;D;D;D;D;D	0.76494	0.992;0.997;0.999;0.999;0.999;0.999	P;P;D;D;D;D	0.79108	0.813;0.884;0.98;0.992;0.98;0.981	T	0.74191	-0.3745	10	0.62326	D	0.03	.	14.4387	0.67301	0.0:0.0:1.0:0.0	.	72;247;367;388;351;295	P29466-5;P29466-4;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	N	295;351;388;388;72;247;72;367;367;72;247	ENSP00000434250:T295N;ENSP00000432340:T351N;ENSP00000433138:T388N;ENSP00000410076:T388N;ENSP00000408446:T72N;ENSP00000403260:T247N;ENSP00000344132:T72N;ENSP00000376844:T367N;ENSP00000434779:T367N;ENSP00000434303:T72N;ENSP00000436875:T247N	ENSP00000344132:T72N	T	-	2	0	CASP1	104402247	1.000000	0.71417	0.869000	0.34112	0.099000	0.18886	4.375000	0.59549	2.322000	0.78497	0.460000	0.39030	ACC	CASP1	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_p10	ENSG00000137752		0.408	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1		0	39	0	G	NM_033292		104897037	-1			no_errors	ENST00000436863	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.930	T	T	104897037	G	T	104897037	3	4	170	1	0	0	0	0	1	0	0	0	2675	1261	44	3	55	3	CASP1	11	104897037	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1869582	104897037	30109479	173	42844											
SIDT2	51092	genome.wustl.edu	37	chr11	117062717	117062717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccattgtcatcttcttctCtgtgctgggcgtggtgaggg	3	14	15	9	1	4	1	1	1	3	0	5	1	4	1	1	4	1	1	1	4	0	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:117062717C>T	ENST00000324225.4	+	19	2390	c.1859C>T	c.(1858-1860)tCt>tTt	p.S620F	SIDT2_ENST00000431081.2_Missense_Mutation_p.S617F|SIDT2_ENST00000532062.1_5'Flank	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	620					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)		ATCTTCTTCTCTGTGCTGGGC	0.607																																																	0													153	142	146					11																	117062717		2201	4296	6497	SO:0001583	missense	0			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.1859C>T	11.37:g.117062717C>T	ENSP00000314023:p.Ser620Phe		Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.S641F	ENST00000324225.4	37	c.1922	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.094742	0.94149	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.21031	2.03;2.03;2.03	4.91	4.91	0.64330	.	0.113064	0.64402	D	0.000007	T	0.35740	0.0942	L	0.38838	1.175	0.80722	D	1	P;P;P;P	0.50272	0.917;0.731;0.708;0.933	P;B;P;P	0.62885	0.694;0.444;0.722;0.908	T	0.01925	-1.1246	10	0.36615	T	0.2	-21.0197	18.2914	0.90131	0.0:1.0:0.0:0.0	.	641;617;620;641	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	F	620;641;617	ENSP00000314023:S620F;ENSP00000278951:S641F;ENSP00000399635:S617F	ENSP00000278951:S641F	S	+	2	0	SIDT2	116567927	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	7.524000	0.81866	2.573000	0.86826	0.655000	0.94253	TCT	SIDT2	-	NULL	ENSG00000149577		0.607	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1		0	16	0	C	NM_015996		117062717	1			no_errors	ENST00000278951	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	117062717	C	T	117062717	3	4	170	1	0	0	0	0	1	0	0	0	14348	913	32	3	1933	3	SIDT2	11	117062717	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	12165680	117062717	17943799	174	42845											
ARHGEF12	23365	genome.wustl.edu	37	chr11	120317116	120317116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcatttatgaagaaaaGagaagacctgagctcattcc	14	11	7	9	0	2	5	2	2	0	3	3	6	3	5	3	0	1	1	3	0	5	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:120317116G>T	ENST00000397843.2	+	17	1516	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K431N|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K347N	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	450	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATGAAGAAAAGAGAAGACCTG	0.373			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													73	67	69					11																	120317116		1870	4122	5992	SO:0001583	missense	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1350G>T	11.37:g.120317116G>T	ENSP00000380942:p.Lys450Asn		O15086|Q6P526	Missense_Mutation	SNP	pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K431N	ENST00000397843.2	37	c.1293	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294528	0.60086	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.82711	-1.64;-1.64;-1.64	6.17	1.78	0.24846	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.51477	D	0.000087	D	0.83788	0.5330	L	0.41236	1.265	0.35244	D	0.778056	B;D;D	0.76494	0.273;0.999;0.999	P;D;D	0.74674	0.486;0.973;0.984	T	0.81699	-0.0814	10	0.17832	T	0.49	-9.0283	10.7593	0.46256	0.6224:0.0:0.3776:0.0	.	347;431;450	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	N	450;431;347	ENSP00000380942:K450N;ENSP00000349056:K431N;ENSP00000432984:K347N	ENSP00000349056:K431N	K	+	3	2	ARHGEF12	119822326	0.999000	0.42202	1.000000	0.80357	0.866000	0.49608	0.551000	0.23361	0.313000	0.23062	-0.345000	0.07892	AAG	ARHGEF12	-	pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam	ENSG00000196914		0.373	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1		0	23	0	G	NM_015313		120317116	1			no_errors	ENST00000356641	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.994	T	T	120317116	G	T	120317116	3	4	170	1	0	0	0	0	1	0	0	0	897	933	33	3	1416	3	ARHGEF12	11	120317116	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	3254399	120317116	14689400	175	42846											
SRPR	6734	genome.wustl.edu	37	chr11	126137598	126137598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcagtgtcaggatcttctGaaaaccaacctgtttagggg	10	12	11	8	0	4	1	2	1	2	0	4	2	4	2	2	3	2	1	2	3	4	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:126137598G>C	ENST00000332118.6	-	3	365	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	FOXRED1_ENST00000263578.5_5'Flank|SRPR_ENST00000530680.1_5'UTR|FOXRED1_ENST00000532125.1_5'Flank|FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.Q43E	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	71					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)		AGGATCTTCTGAAAACCAACC	0.463																																																	0													71	73	72					11																	126137598		2201	4298	6499	SO:0001583	missense	0			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.211C>G	11.37:g.126137598G>C	ENSP00000328023:p.Gln71Glu		A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom	p.Q71E	ENST00000332118.6	37	c.211	CCDS31717.1	11	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193120	0.38707	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.24	3.3	0.37823	Longin-like (1);Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.113557	0.64402	D	0.000009	T	0.80476	0.4630	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.986	D	0.84038	0.0363	9	0.72032	D	0.01	-10.1617	13.9656	0.64207	0.0:0.1531:0.8469:0.0	.	43;71	E9PJS4;P08240	.;SRPR_HUMAN	E	71;43	.	ENSP00000328023:Q71E	Q	-	1	0	SRPR	125642808	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	9.548000	0.98103	0.962000	0.38057	-0.494000	0.04653	CAG	SRPR	-	pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom	ENSG00000182934		0.463	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2	-	0	35	0	G	NM_003139		126137598	-1	tier1	-	no_errors	ENST00000332118	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	C	C	126137598	G	C	126137598	3	2	170	1	0	0	0	0	1	0	0	0	15209	1299	45	5	1753	5	SRPR	11	126137598	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	5820482	126137598	8868918	176	42847											
KIRREL3	84623	genome.wustl.edu	37	chr11	126294541	126294541	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagttctgggacgaggactgGgagtggtgggaggaggaagc	9	6	22	4	1	1	0	0	0	1	0	1	8	1	6	0	7	1	1	0	7	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr11:126294541G>T	ENST00000525144.2	-	17	2520	c.2271C>A	c.(2269-2271)tcC>tcA	p.S757S	KIRREL3_ENST00000416561.2_Silent_p.S224S|KIRREL3_ENST00000529097.2_Silent_p.S745S	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	757	Ser-rich.				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)		ACGAGGACTGGGAGTGGTGGG	0.632																																																	0													119	130	126					11																	126294541		2161	4270	6431	SO:0001819	synonymous_variant	0			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.2271C>A	11.37:g.126294541G>T			Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S757	ENST00000525144.2	37	c.2271	CCDS53723.1	11																																																																																			KIRREL3	-	NULL	ENSG00000149571		0.632	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	HGNC	protein_coding	OTTHUMT00000386479.2	-	0	53	0	G	NM_032531		126294541	-1	tier1	-	no_errors	ENST00000525144	ensembl	human	known	74_37	silent	35.14	24	13	SNP	0.990	T	T	126294541	G	T	126294541	2	4	170	1	0	0	0	0	0	0	0	1	8353	1219	43	3		3	KIRREL3	11	126294541	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	156943	126294541	8711975	177	42848											
NCAPD2	9918	genome.wustl.edu	37	chr12	6623482	6623482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaatcccaccattaatcaCcagaagaaccgccccactcg	14	5	6	16	2	1	3	1	0	0	3	3	4	2	3	6	0	1	0	6	0	4	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:6623482C>A	ENST00000315579.5	+	7	1438	c.639C>A	c.(637-639)caC>caA	p.H213Q	NCAPD2_ENST00000545962.1_Missense_Mutation_p.H168Q	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	213	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCATTAATCACCAGAAGAACC	0.488																																																	0													102	111	108					12																	6623482		2203	4300	6503	SO:0001583	missense	0			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.639C>A	12.37:g.6623482C>A	ENSP00000325017:p.His213Gln		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.H213Q	ENST00000315579.5	37	c.639	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455882	0.63401	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.29655	2.53;1.56;2.26	5.79	5.79	0.91817	Condensin complex, subunit 1, N-terminal (1);	0.162807	0.56097	D	0.000030	T	0.46658	0.1404	L	0.57536	1.79	0.44261	D	0.997119	D;P;D	0.67145	0.995;0.899;0.996	D;P;D	0.66847	0.911;0.817;0.947	T	0.21621	-1.0240	10	0.27082	T	0.32	-22.9744	11.0184	0.47703	0.0:0.8882:0.0:0.1118	.	168;174;213	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	Q	213;85;168;85	ENSP00000325017:H213Q;ENSP00000371895:H85Q;ENSP00000444417:H168Q	ENSP00000325017:H213Q	H	+	3	2	NCAPD2	6493743	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	1.006000	0.29847	2.735000	0.93741	0.643000	0.83706	CAC	NCAPD2	-	pirsf_Condensin_cplx_su1	ENSG00000010292		0.488	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	-	0	43	0	C	NM_014865		6623482	1	tier1	-	no_errors	ENST00000315579	ensembl	human	known	74_37	missense	21.95	64	18	SNP	1.000	A	A	6623482	C	A	6623482	3	1	170	1	0	0	0	0	1	0	0	0	10244	506	18	3	661	3	NCAPD2	12	6623482	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09		6623482	127228413	178	42849											
GDF3	9573	genome.wustl.edu	37	chr12	7842479	7842479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatttctgacatcctaccCacacccacattcatcgacta	11	10	2	18	1	2	1	1	1	1	0	4	2	3	1	4	0	1	0	4	0	2	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:7842479C>A	ENST00000329913.3	-	2	1137	c.1090G>T	c.(1090-1092)Ggg>Tgg	p.G364W		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	364					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						ACATCCTACCCACACCCACAT	0.403																																																	0													92	86	88					12																	7842479		2203	4300	6503	SO:0001583	missense	0			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.1090G>T	12.37:g.7842479C>A	ENSP00000331745:p.Gly364Trp		Q8NEJ4	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.G364W	ENST00000329913.3	37	c.1090	CCDS8581.1	12	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815339	0.50527	.	.	ENSG00000184344	ENST00000329913	D	0.83591	-1.74	3.82	2.91	0.33838	Transforming growth factor-beta, C-terminal (2);	0.104980	0.64402	D	0.000006	D	0.83261	0.5216	L	0.40543	1.245	0.31310	N	0.687231	D	0.67145	0.996	D	0.69307	0.963	T	0.80623	-0.1300	10	0.87932	D	0	.	5.0279	0.14395	0.0:0.7574:0.0:0.2426	.	364	Q9NR23	GDF3_HUMAN	W	364	ENSP00000331745:G364W	ENSP00000331745:G364W	G	-	1	0	GDF3	7733746	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.080000	0.30779	2.070000	0.61991	0.561000	0.74099	GGG	GDF3	-	smart_TGF-b_C	ENSG00000184344		0.403	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF3	HGNC	protein_coding	OTTHUMT00000399717.1	-	0	48	0	C			7842479	-1	tier1	-	no_errors	ENST00000329913	ensembl	human	known	74_37	missense	84.85	5	28	SNP	1.000	A	A	7842479	C	A	7842479	3	1	170	1	0	0	0	0	1	0	0	0	6341	594	21	3	8	3	GDF3	12	7842479	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	1218997	7842479	126009416	179	42850											
KIAA1467	57613	genome.wustl.edu	37	chr12	13211471	13211471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtgatgtcaaggaacGggagtgcagtaggtaagaga	12	9	15	5	1	1	2	1	1	0	1	1	5	1	4	1	3	2	3	1	3	4	3	rs117039796	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:13211471G>C	ENST00000197268.8	+	3	640	c.520G>C	c.(520-522)Ggg>Cgg	p.G174R		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	174						integral component of membrane (GO:0016021)		p.G174W(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GTCAAGGAACGGGAGTGCAGT	0.493																																																	1	Substitution - Missense(1)	lung(1)											364	324	338					12																	13211471		2203	4300	6503	SO:0001583	missense	0			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.520G>C	12.37:g.13211471G>C	ENSP00000197268:p.Gly174Arg		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.G174R	ENST00000197268.8	37	c.520	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	G	9.124	1.009832	0.19277	.	.	ENSG00000084444	ENST00000197268	T	0.57436	0.4	4.92	4.0	0.46444	Quinonprotein alcohol dehydrogenase-like (1);	0.577624	0.19150	N	0.121464	T	0.48077	0.1480	L	0.57536	1.79	0.30461	N	0.774337	P	0.44986	0.847	B	0.40741	0.339	T	0.50849	-0.8779	10	0.25106	T	0.35	-17.4886	12.578	0.56375	0.0:0.1669:0.8331:0.0	.	174	A2RU67	K1467_HUMAN	R	174	ENSP00000197268:G174R	ENSP00000197268:G174R	G	+	1	0	KIAA1467	13102738	0.902000	0.30710	0.320000	0.25306	0.020000	0.10135	1.356000	0.34079	1.249000	0.43950	0.655000	0.94253	GGG	KIAA1467	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000084444		0.493	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	-	0	81	0	G	NM_020853		13211471	1	tier1	-	no_errors	ENST00000197268	ensembl	human	known	74_37	missense	18.63	83	19	SNP	0.851	C	C	13211471	G	C	13211471	3	2	170	1	0	0	0	0	1	0	0	0	8262	1116	39	5	530	5	KIAA1467	12	13211471	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	5368992	13211471	120640424	180	42851											
RERGL	79785	genome.wustl.edu	37	chr12	18238585	18238585	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcatatatttctagatttAgttgtttcctttccaaacac	10	18	5	8	0	2	1	1	0	1	1	4	1	4	1	2	1	1	2	2	1	5	9			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:18238585A>G	ENST00000229002.2	-	4	361	c.155T>C	c.(154-156)cTa>cCa	p.L52P	RERGL_ENST00000536890.1_Missense_Mutation_p.L51P|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.L51P	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	52	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.L52R(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTCTAGATTTAGTTGTTTCCT	0.279																																																	2	Substitution - Missense(2)	large_intestine(2)											109	111	110					12																	18238585		2202	4297	6499	SO:0001583	missense	0			AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.155T>C	12.37:g.18238585A>G	ENSP00000229002:p.Leu52Pro			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	p.L52P	ENST00000229002.2	37	c.155	CCDS8679.1	12	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720183	0.48728	.	.	ENSG00000111404	ENST00000229002;ENST00000538724;ENST00000536890	T;T;T	0.78246	-1.16;-1.16;-1.16	3.9	3.9	0.45041	.	0.181088	0.37483	N	0.002076	D	0.87688	0.6240	M	0.85777	2.775	0.80722	D	1	D;D	0.76494	0.96;0.999	P;D	0.72338	0.891;0.977	D	0.89269	0.3603	10	0.66056	D	0.02	.	12.3173	0.54964	1.0:0.0:0.0:0.0	.	51;52	F5H686;Q9H628	.;RERGL_HUMAN	P	52;51;51	ENSP00000229002:L52P;ENSP00000437814:L51P;ENSP00000437490:L51P	ENSP00000229002:L52P	L	-	2	0	RERGL	18129852	1.000000	0.71417	0.679000	0.29978	0.513000	0.34164	5.320000	0.65841	1.986000	0.57962	0.455000	0.32223	CTA	RERGL	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	ENSG00000111404		0.279	RERGL-001	KNOWN	basic|CCDS	protein_coding	RERGL	HGNC	protein_coding	OTTHUMT00000401198.1		0	22	0	A	NM_024730		18238585	-1			no_errors	ENST00000229002	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.977	G	G	18238585	A	G	18238585	3	3	170	1	0	0	0	0	1	0	0	0	13278	420	15	4	474	4	RERGL	12	18238585	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	5027114	18238585	115613310	181	42852											
PDE3A	5139	genome.wustl.edu	37	chr12	20807137	20807137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaaaataatgaatctcCaagtaagttctaaaacctag	17	11	6	7	0	2	2	0	2	2	0	3	2	2	2	2	0	1	2	2	0	9	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:20807137C>T	ENST00000359062.3	+	15	3222	c.3182C>T	c.(3181-3183)cCa>cTa	p.P1061L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1061	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)	AATGAATCTCCAAGTAAGTTC	0.378																																																	0													86	89	88					12																	20807137		2203	4300	6503	SO:0001583	missense	0				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.3182C>T	12.37:g.20807137C>T	ENSP00000351957:p.Pro1061Leu		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.P1061L	ENST00000359062.3	37	c.3182	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241523	0.22711	.	.	ENSG00000172572	ENST00000359062	T	0.77229	-1.08	5.04	4.15	0.48705	.	1.016300	0.07845	N	0.963629	T	0.71728	0.3374	L	0.45137	1.4	0.50813	D	0.999896	B	0.21225	0.053	B	0.15870	0.014	T	0.57236	-0.7846	10	0.30078	T	0.28	.	11.5356	0.50634	0.0:0.9121:0.0:0.0879	.	1061	Q14432	PDE3A_HUMAN	L	1061	ENSP00000351957:P1061L	ENSP00000351957:P1061L	P	+	2	0	PDE3A	20698404	1.000000	0.71417	0.996000	0.52242	0.172000	0.22775	6.922000	0.75811	1.267000	0.44247	-0.136000	0.14681	CCA	PDE3A	-	NULL	ENSG00000172572		0.378	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	-	0	59	0	C			20807137	1	tier1	-	no_errors	ENST00000359062	ensembl	human	known	74_37	missense	47.37	20	18	SNP	0.996	T	T	20807137	C	T	20807137	3	4	170	1	0	0	0	0	1	0	0	0	11676	594	21	3	3240	3	PDE3A	12	20807137	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	2568552	20807137	113044758	182	42853											
YARS2	51067	genome.wustl.edu	37	chr12	32908804	32908804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccgcaagatgggcgccGccatcttggtagcggcacga	9	5	15	12	5	1	1	0	0	1	1	1	3	1	2	3	4	1	3	3	4	2	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:32908804G>T	ENST00000324868.8	-	1	32	c.5C>A	c.(4-6)gCg>gAg	p.A2E		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	2				MAAP -> MGA (in Ref. 1; AAD27714). {ECO:0000305}.	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)	GATGGGCGCCGCCATCTTGGT	0.587											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													17	20	19					12																	32908804		2185	4291	6476	SO:0001583	missense	0			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.5C>A	12.37:g.32908804G>T	ENSP00000320658:p.Ala2Glu	836	D3DUW8|Q9H817	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.A2E	ENST00000324868.8	37	c.5	CCDS31770.1	12	.	.	.	.	.	.	.	.	.	.	g	18.16	3.561090	0.65538	.	.	ENSG00000139131	ENST00000324868	T	0.73469	-0.75	5.1	4.22	0.49857	.	0.158773	0.56097	D	0.000031	T	0.79353	0.4431	L	0.34521	1.04	0.42771	D	0.993834	D	0.89917	1.0	D	0.91635	0.999	T	0.82020	-0.0664	10	0.87932	D	0	-16.8825	13.6559	0.62338	0.0745:0.0:0.9255:0.0	.	2	Q9Y2Z4	SYYM_HUMAN	E	2	ENSP00000320658:A2E	ENSP00000320658:A2E	A	-	2	0	YARS2	32800071	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	6.309000	0.72825	1.416000	0.47057	-0.124000	0.14976	GCG	YARS2	-	NULL	ENSG00000139131		0.587	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS2	HGNC	protein_coding	OTTHUMT00000404153.1	-	0	49	0	G	NM_015936		32908804	-1	tier1	-	no_errors	ENST00000324868	ensembl	human	known	74_37	missense	66.67	4	8	SNP	1.000	T	T	32908804	G	T	32908804	3	4	170	1	0	0	0	0	1	0	0	0	17517	1087	38	2	1448	2	YARS2	12	32908804	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	12101667	32908804	100943091	183	42854											
PDZRN4	29951	genome.wustl.edu	37	chr12	41903641	41903641	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacatccaatggagcatGaattttatgaggacaatgag	14	11	9	7	0	1	3	0	3	1	0	2	5	2	5	1	2	2	1	1	2	5	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:41903641G>T	ENST00000402685.2	+	5	1137	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	PDZRN4_ENST00000298919.7_Nonsense_Mutation_p.E117*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E119*	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	377							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)				AATGGAGCATGAATTTTATGA	0.368																																																	0													154	148	150					12																	41903641		2203	4300	6503	SO:0001587	stop_gained	0			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.1129G>T	12.37:g.41903641G>T	ENSP00000384197:p.Glu377*		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.E377*	ENST00000402685.2	37	c.1129	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.631618	0.99224	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	.	.	.	4.86	4.86	0.63082	.	0.241943	0.34879	N	0.003611	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-8.4207	18.9006	0.92440	0.0:0.0:1.0:0.0	.	.	.	.	X	377;119;117	.	ENSP00000298919:E117X	E	+	1	0	PDZRN4	40189908	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.336000	0.96533	2.631000	0.89168	0.650000	0.86243	GAA	PDZRN4	-	superfamily_PDZ	ENSG00000165966		0.368	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	-	0	46	0	G	NM_013377		41903641	1	tier1	-	no_errors	ENST00000402685	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T	T	41903641	G	T	41903641	4	4	170	1	0	0	0	0	0	1	0	0	11749	1291	45	3	1220	3	PDZRN4	12	41903641	Nonsense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	8994837	41903641	91948254	184	42855											
INHBE	83729	genome.wustl.edu	37	chr12	57850342	57850342	+	Missense_Mutation	SNP	A	A	T	1	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	caggcgagaccattacgtagActtccaggaactgggatggc	11	7	13	10	2	0	2	0	0	0	2	1	5	1	4	2	4	2	1	2	4	3	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:57850342A>T	ENST00000266646.2	+	2	980	c.764A>T	c.(763-765)gAc>gTc	p.D255V	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	255					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CATTACGTAGACTTCCAGGAA	0.632											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													84	90	88					12																	57850342		2203	4300	6503	SO:0001583	missense	0				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.764A>T	12.37:g.57850342A>T	ENSP00000266646:p.Asp255Val	1026		Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu	p.D255V	ENST00000266646.2	37	c.764	CCDS8939.1	12	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189788	0.78789	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	T;T	0.68181	-0.31;-0.31	4.79	4.79	0.61399	Transforming growth factor-beta, C-terminal (3);	0.168622	0.52532	D	0.000075	T	0.81716	0.4881	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84586	0.0664	10	0.87932	D	0	-4.6861	13.7584	0.62950	1.0:0.0:0.0:0.0	.	255	P58166	INHBE_HUMAN	V	200;255	ENSP00000450212:D200V;ENSP00000266646:D255V	ENSP00000266646:D255V	D	+	2	0	INHBE	56136609	1.000000	0.71417	0.994000	0.49952	0.883000	0.51084	9.094000	0.94168	2.144000	0.66660	0.533000	0.62120	GAC	INHBE	-	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	ENSG00000139269		0.632	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBE	HGNC	protein_coding	OTTHUMT00000406773.1	-	0	64	0	A	NM_031479		57850342	1	tier1	-	no_errors	ENST00000266646	ensembl	human	known	74_37	missense	88.31	9	68	SNP	1.000	T	T	57850342	A	T	57850342	3	4	170	1	0	0	0	0	1	0	0	0	7771	275	10	5	770	5	INHBE	12	57850342	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	15946701	57850342	76001553	185	42856											
CPM	1368	genome.wustl.edu	37	chr12	69250413	69250413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagttctgggatttctccGgaataatcacctttgtgatg	9	15	10	7	1	3	2	1	2	2	0	4	4	3	4	2	2	0	1	2	2	3	4	rs139235186	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:69250413G>T	ENST00000551568.1	-	9	1196	c.1136C>A	c.(1135-1137)cCg>cAg	p.P379Q	CPM_ENST00000338356.3_Missense_Mutation_p.P379Q|CPM_ENST00000546373.1_Missense_Mutation_p.P379Q	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	379					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GGATTTCTCCGGAATAATCAC	0.418																																																	0													97	95	96					12																	69250413		2203	4300	6503	SO:0001583	missense	0			AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"renal carboxypeptidase", "urinary carboxypeptidase B"	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.1136C>A	12.37:g.69250413G>T	ENSP00000448517:p.Pro379Gln		B2R800|Q9H2K9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Aste_AspA,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.P379Q	ENST00000551568.1	37	c.1136	CCDS8987.1	12	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766132	0.69878	.	.	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373	T;T;T	0.41065	1.01;1.01;1.01	5.48	5.48	0.80851	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.118364	0.64402	D	0.000018	T	0.62233	0.2411	M	0.75150	2.29	0.45194	D	0.998202	D	0.64830	0.994	D	0.63703	0.917	T	0.61806	-0.6987	9	.	.	.	-8.7213	15.2417	0.73476	0.0:0.0:1.0:0.0	.	379	P14384	CBPM_HUMAN	Q	379	ENSP00000448517:P379Q;ENSP00000339157:P379Q;ENSP00000447255:P379Q	.	P	-	2	0	CPM	67536680	0.995000	0.38212	0.962000	0.40283	0.778000	0.44026	2.736000	0.47385	2.756000	0.94617	0.655000	0.94253	CCG	CPM	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000135678		0.418	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPM	HGNC	protein_coding	OTTHUMT00000403355.1	-	0	44	0	G	NM_198320		69250413	-1	tier1	-	no_errors	ENST00000338356	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.979	T	T	69250413	G	T	69250413	3	4	170	1	0	0	0	0	1	0	0	0	3815	1116	39	2	199	2	CPM	12	69250413	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	11400071	69250413	64601482	186	42857											
BBS10	79738	genome.wustl.edu	37	chr12	76740691	76740691	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttaggtatttcacactgCgaaaaggcctgtggtggtac	9	12	13	7	1	1	0	1	0	0	0	1	1	1	0	1	4	2	3	1	4	5	4	rs551803123	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:76740691C>T	ENST00000393262.3	-	2	1157	c.1074G>A	c.(1072-1074)tcG>tcA	p.S358S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	358					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TTTCACACTGCGAAAAGGCCT	0.393									Bardet-Biedl syndrome				C|||	2	0.000399361	0	0	5008	,	,		20222	0.002		0	False		,,,				2504	0																0													75	66	69					12																	76740691		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1074G>A	12.37:g.76740691C>T			Q96CW2|Q9H5D2	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	p.S358	ENST00000393262.3	37	c.1074	CCDS9014.2	12																																																																																			BBS10	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	ENSG00000179941		0.393	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2		0	38	0	C	NM_024685		76740691	-1			no_errors	ENST00000393262	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.000	T	T	76740691	C	T	76740691	2	4	170	1	0	0	0	0	0	0	0	1	1337	755	27	1		1	BBS10	12	76740691	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	7490278	76740691	57111204	187	42858											
NFYB	4801	genome.wustl.edu	37	chr12	104522279	104522279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagaagcatctgttgtaGaactgtcaccatccatctat	11	13	8	9	0	3	2	1	1	2	2	4	3	4	2	2	0	2	4	2	0	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:104522279G>T	ENST00000240055.3	-	3	250	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	NFYB_ENST00000551727.1_Missense_Mutation_p.S8Y	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	8	A domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S8F(1)		large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCTGTTGTAGAACTGTCACC	0.368																																																	1	Substitution - Missense(1)	skin(1)											148	150	150					12																	104522279		2203	4300	6503	SO:0001583	missense	0				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.23C>A	12.37:g.104522279G>T	ENSP00000240055:p.Ser8Tyr		A8K7B9|Q96IY8	Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3	p.S8Y	ENST00000240055.3	37	c.23	CCDS9098.1	12	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460750	0.84317	.	.	ENSG00000120837	ENST00000240055;ENST00000551727;ENST00000551446	T;T	0.53640	0.61;0.61	6.14	6.14	0.99180	.	0.162866	0.56097	D	0.000028	T	0.42314	0.1197	L	0.34521	1.04	0.58432	D	0.999998	P	0.44195	0.828	B	0.37833	0.259	T	0.42899	-0.9424	10	0.87932	D	0	-4.44	20.8449	0.99727	0.0:0.0:1.0:0.0	.	8	P25208	NFYB_HUMAN	Y	8;8;9	ENSP00000240055:S8Y;ENSP00000447486:S8Y	ENSP00000240055:S8Y	S	-	2	0	NFYB	103046409	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.762000	0.85270	2.933000	0.99390	0.645000	0.84053	TCT	NFYB	-	NULL	ENSG00000120837		0.368	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYB	HGNC	protein_coding	OTTHUMT00000407786.1		0	25	0	G			104522279	-1			no_errors	ENST00000240055	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	104522279	G	T	104522279	3	4	170	1	0	0	0	0	1	0	0	0	10429	942	33	3	624	3	NFYB	12	104522279	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	27781588	104522279	29329616	188	42859											
BTBD11	121551	genome.wustl.edu	37	chr12	108004132	108004132	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaacaccatgagcgaacaGgtacagggtccgagggtctg	12	6	13	10	2	2	1	1	1	1	0	3	3	3	1	2	3	4	1	2	3	3	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:108004132G>T	ENST00000280758.5	+	5	2337	c.1809G>T	c.(1807-1809)caG>caT	p.Q603H	BTBD11_ENST00000490090.2_Splice_Site_p.Q603H|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Splice_Site_p.Q140H|BTBD11_ENST00000420571.2_Splice_Site_p.Q603H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	603						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						TGAGCGAACAGGTACAGGGTC	0.612											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													105	97	100					12																	108004132		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1809+1G>T	12.37:g.108004132G>T		21	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.Q603H	ENST00000280758.5	37	c.1809	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050682	0.55218	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000415943;ENST00000357167	T;T;T;T;T	0.62232	0.65;0.65;0.65;0.04;0.65	4.82	4.82	0.62117	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	N	0.25094	0.71	0.80722	D	1	D;D;D;D	0.89917	0.998;0.996;0.996;1.0	D;D;D;D	0.91635	0.994;0.995;0.995;0.999	T	0.67284	-0.5709	10	0.54805	T	0.06	.	11.5623	0.50785	0.0815:0.0:0.9185:0.0	.	603;140;603;603	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	H	603;603;603;237;140	ENSP00000280758:Q603H;ENSP00000413889:Q603H;ENSP00000447319:Q603H;ENSP00000407416:Q237H;ENSP00000349690:Q140H	ENSP00000280758:Q603H	Q	+	3	2	BTBD11	106528262	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	8.003000	0.88520	2.509000	0.84616	0.462000	0.41574	CAG	BTBD11	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151136		0.612	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1		0	56	0	G	NM_152322	Missense_Mutation	108004132	1			no_errors	ENST00000280758	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	T	T	108004132	G	T	108004132	5	4	170	1	0	0	0	0	0	0	1	0	1543	1014	35	3	1932	3	BTBD11	12	108004132	Splice_Site	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	3481853	108004132	25847763	189	42860											
C12orf51	283450	genome.wustl.edu	37	chr12	112622969	112622969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatgttagtaggcagggtCacttcggccacagccaggca	9	8	12	12	1	2	0	2	0	0	0	3	0	2	0	2	4	1	4	2	4	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:112622969C>T	ENST00000430131.2	-	60	9680	c.8535G>A	c.(8533-8535)gtG>gtA	p.V2845V	HECTD4_ENST00000377560.5_Silent_p.V3095V|HECTD4_ENST00000550722.1_Silent_p.V3121V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2845					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)										TAGGCAGGGTCACTTCGGCCA	0.647																																																	0													16	18	17					12																	112622969		2012	4112	6124	SO:0001819	synonymous_variant	0			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.8535G>A	12.37:g.112622969C>T			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.V3095	ENST00000430131.2	37	c.9285		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.647	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	48	0	C	NM_173813		112622969	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	21.21	51	14	SNP	0.994	T	T	112622969	C	T	112622969	2	4	170	1	0	0	0	0	0	0	0	1	1701	813	29	3		3	C12orf51	12	112622969	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	4618837	112622969	21228926	190	42861											
RBM19	9904	genome.wustl.edu	37	chr12	114362504	114362504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatttcatgcggaatacctGctttgttcttcttcttggag	7	17	9	8	1	4	0	1	0	3	0	4	3	4	2	1	2	3	2	1	2	3	7			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr12:114362504G>T	ENST00000545145.2	-	18	2381	c.2303C>A	c.(2302-2304)gCa>gAa	p.A768E	RBM19_ENST00000392561.3_Missense_Mutation_p.A768E|RBM19_ENST00000261741.5_Missense_Mutation_p.A768E	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	768	RRM 5. {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)					CGGAATACCTGCTTTGTTCTT	0.448																																																	0													196	190	192					12																	114362504		2203	4300	6503	SO:0001583	missense	0			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.2303C>A	12.37:g.114362504G>T	ENSP00000442053:p.Ala768Glu		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.A768E	ENST00000545145.2	37	c.2303	CCDS9172.1	12	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245892	0.22796	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.73789	-0.78;-0.78;-0.78	5.74	5.74	0.90152	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.433327	0.25205	N	0.032351	T	0.61874	0.2382	N	0.17631	0.505	0.58432	D	0.999996	B	0.10296	0.003	B	0.21151	0.033	T	0.55761	-0.8090	10	0.17832	T	0.49	-17.5064	16.6331	0.85039	0.0:0.0:1.0:0.0	.	768	Q9Y4C8	RBM19_HUMAN	E	768	ENSP00000442053:A768E;ENSP00000376344:A768E;ENSP00000261741:A768E	ENSP00000261741:A768E	A	-	2	0	RBM19	112846887	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	5.788000	0.69020	2.713000	0.92767	0.655000	0.94253	GCA	RBM19	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000122965		0.448	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	RBM19	HGNC	protein_coding	OTTHUMT00000405251.1	-	0	47	0	G	NM_016196		114362504	-1	tier1	-	no_errors	ENST00000261741	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	114362504	G	T	114362504	3	4	170	1	0	0	0	0	1	0	0	0	13166	1319	46	3	607	3	RBM19	12	114362504	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1739535	114362504	19489391	191	42862											
PABPC3	5042	genome.wustl.edu	37	chr13	25671806	25671806	+	Silent	SNP	T	T	A	0	1	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	gtgggtccacgtcctgcagcTgctgctgctgctgcagctac	4	10	13	14	1	0	0	0	0	0	0	2	0	2	0	2	1	9	8	2	1	1	1	rs537105482|rs150143049|rs558565724	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr13:25671806T>A	ENST00000281589.3	+	1	1507	c.1470T>A	c.(1468-1470)gcT>gcA	p.A490A		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	490					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)		GTCctgcagctgctgctgctg	0.537													t|||	1	0.000199681	0	0	5008	,	,		21148	0		0.001	False		,,,				2504	0																0													49	46	47					13																	25671806		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1470T>A	13.37:g.25671806T>A			Q8NHV0|Q9H086	Silent	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.A490	ENST00000281589.3	37	c.1470	CCDS9311.1	13																																																																																			PABPC3	-	superfamily_PABP_HYD,tigrfam_PABP_1234	ENSG00000151846		0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2		0	45	0	T	NM_030979		25671806	1			no_errors	ENST00000281589	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.999	A	A	25671806	T	A	25671806	2	1	170	1	0	0	0	0	0	0	0	1	11404	1567	55	5		5	PABPC3	13	25671806	Silent	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09		25671806	89498072	192	42863											
PDS5B	23047	genome.wustl.edu	37	chr13	33309466	33309466	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcttctcatgaatgatcGggtaatttatattttttaga	12	18	7	4	1	2	4	1	2	2	2	4	4	2	4	0	1	0	1	0	1	5	8			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr13:33309466G>A	ENST00000315596.10	+	21	2591	c.2405G>A	c.(2404-2406)cGg>cAg	p.R802Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	802					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)		ATGAATGATCGGGTAATTTAT	0.313																																																	0													88	78	81					13																	33309466		1831	4094	5925	SO:0001630	splice_region_variant	0			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.2406+1G>A	13.37:g.33309466G>A			Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R802Q	ENST00000315596.10	37	c.2405	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183906	0.78677	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.54323	1.7	0.80722	D	1	B	0.27997	0.197	B	0.21360	0.034	T	0.55244	-0.8171	9	0.29301	T	0.29	-1.8654	19.1293	0.93399	0.0:0.0:1.0:0.0	.	802	Q9NTI5	PDS5B_HUMAN	Q	802	.	ENSP00000313851:R802Q	R	+	2	0	PDS5B	32207466	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.694000	0.98686	2.534000	0.85438	0.650000	0.86243	CGG	PDS5B	-	superfamily_ARM-type_fold	ENSG00000083642		0.313	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3		0	27	0	G	NM_015032	Missense_Mutation	33309466	1			no_errors	ENST00000315596	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	33309466	G	A	33309466	5	1	170	1	0	0	0	0	0	0	1	0	11731	1130	39	1	2483	1	PDS5B	13	33309466	Splice_Site	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	7637660	33309466	81860412	193	42864											
ENOX1	55068	genome.wustl.edu	37	chr13	43986988	43986988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggcatttacctgcagcCatcatctgaggaagctcctg	9	10	9	13	0	2	1	1	1	1	0	3	2	3	2	3	2	4	3	3	2	2	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr13:43986988C>G	ENST00000261488.6	-	4	640	c.63G>C	c.(61-63)atG>atC	p.M21I	ENOX1_ENST00000412891.1_Missense_Mutation_p.M21I	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	21					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TACCTGCAGCCATCATCTGAG	0.473																																																	0													118	107	111					13																	43986988		2203	4300	6503	SO:0001583	missense	0			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.63G>C	13.37:g.43986988C>G	ENSP00000261488:p.Met21Ile		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M21I	ENST00000261488.6	37	c.63	CCDS9389.1	13	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828459	0.50845	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.39997	1.05;1.05	5.91	5.91	0.95273	.	0.127165	0.53938	D	0.000043	T	0.31918	0.0812	N	0.08118	0	0.80722	D	1	P	0.35872	0.525	B	0.42214	0.38	T	0.15206	-1.0445	10	0.30854	T	0.27	.	17.4545	0.87603	0.0:1.0:0.0:0.0	.	21	Q8TC92	ENOX1_HUMAN	I	21	ENSP00000261488:M21I;ENSP00000415054:M21I	ENSP00000261488:M21I	M	-	3	0	ENOX1	42884988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.523000	0.60545	2.793000	0.96121	0.655000	0.94253	ATG	ENOX1	-	NULL	ENSG00000120658		0.473	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	-	0	74	0	C	NM_017993		43986988	-1	tier1	-	no_errors	ENST00000261488	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	G	G	43986988	C	G	43986988	3	3	170	1	0	0	0	0	1	0	0	0	5142	594	21	5	1924	5	ENOX1	13	43986988	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	10677522	43986988	71182890	194	42865											
C13orf18	80183	genome.wustl.edu	37	chr13	46924315	46924315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctcagcaaattgaaaatgGgctggtgccatatgctgtcg	10	11	12	8	1	1	1	1	1	0	0	2	1	1	1	1	2	4	4	1	2	4	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr13:46924315G>T	ENST00000429979.1	-	11	2106	c.1502C>A	c.(1501-1503)cCc>cAc	p.P501H	KIAA0226L_ENST00000409879.2_Missense_Mutation_p.P344H|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.P501H|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.P344H|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.P501H|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.P501H|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.P366H|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.P434H	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	501										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATTGAAAATGGGCTGGTGCCA	0.532																																																	0													67	55	59					13																	46924315		2203	4300	6503	SO:0001583	missense	0			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.1502C>A	13.37:g.46924315G>T	ENSP00000396935:p.Pro501His		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	NULL	p.P501H	ENST00000429979.1	37	c.1502	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144356	0.77888	.	.	ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T	0.70986	-0.13;-0.53;-0.1;-0.13;-0.53;-0.03	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000006	D	0.88713	0.6511	H	0.94582	3.555	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.997;1.0;1.0;1.0;0.998	D;D;D;D;D;D	0.77557	0.99;0.99;0.99;0.986;0.983;0.909	D	0.91422	0.5159	10	0.66056	D	0.02	-13.7471	18.1529	0.89679	0.0:0.0:1.0:0.0	.	344;344;501;366;434;501	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.;.	H	501;501;434;501;501;344;344;366	ENSP00000396935:P501H;ENSP00000368074:P501H;ENSP00000368061:P434H;ENSP00000374558:P501H;ENSP00000368064:P501H;ENSP00000437501:P366H	ENSP00000315633:P344H	P	-	2	0	KIAA0226L	45822316	1.000000	0.71417	0.999000	0.59377	0.567000	0.35839	7.714000	0.84703	2.616000	0.88540	0.655000	0.94253	CCC	KIAA0226L	-	NULL	ENSG00000102445		0.532	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	-	0	61	0	G	NM_025113		46924315	-1	tier1	-	no_errors	ENST00000389908	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	T	T	46924315	G	T	46924315	3	4	170	1	0	0	0	0	1	0	0	0	1725	1232	43	3	506	3	C13orf18	13	46924315	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	2937327	46924315	68245563	195	42866											
DIAPH3	81624	genome.wustl.edu	37	chr13	60435631	60435631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttctaccaggaaatgaaGtagcgttgttttctgatctg	10	16	9	6	1	3	2	0	2	3	0	3	3	3	3	1	1	2	3	1	1	5	7			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr13:60435631G>T	ENST00000400324.4	-	22	2867	c.2647C>A	c.(2647-2649)Ctt>Att	p.L883I	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.L883I|DIAPH3_ENST00000400319.1_Missense_Mutation_p.L813I|DIAPH3_ENST00000400320.1_Missense_Mutation_p.L837I|DIAPH3_ENST00000377908.2_Missense_Mutation_p.L872I|DIAPH3_ENST00000267215.4_Missense_Mutation_p.L883I	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	883	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)		AGGAAATGAAGTAGCGTTGTT	0.363																																																	0													152	139	143					13																	60435631		1833	4079	5912	SO:0001583	missense	0			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.2647C>A	13.37:g.60435631G>T	ENSP00000383178:p.Leu883Ile		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.L883I	ENST00000400324.4	37	c.2647	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983517	0.93044	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-0.18	5.62	5.62	0.85841	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	D	0.92057	0.7483	M	0.89601	3.045	0.54753	D	0.999987	D;D;D	0.76494	0.957;0.997;0.999	D;D;D	0.91635	0.97;0.992;0.999	D	0.93106	0.6512	10	0.87932	D	0	.	19.6569	0.95845	0.0:0.0:1.0:0.0	.	620;620;883	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	I	883;883;872;837;813;872;813;837;883;620;883	ENSP00000383178:L883I;ENSP00000383184:L883I;ENSP00000367141:L872I;ENSP00000383173:L813I;ENSP00000383174:L837I;ENSP00000267215:L883I	ENSP00000267214:L620I	L	-	1	0	DIAPH3	59333632	1.000000	0.71417	0.969000	0.41365	0.900000	0.52787	9.476000	0.97823	2.652000	0.90054	0.561000	0.74099	CTT	DIAPH3	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000139734		0.363	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	-	0	87	0	G	NM_001042517		60435631	-1	tier1	-	no_errors	ENST00000400324	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.999	T	T	60435631	G	T	60435631	3	4	170	1	0	0	0	0	1	0	0	0	4534	1029	36	3	982	3	DIAPH3	13	60435631	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	13511316	60435631	54734247	196	42867											
PCDH9	5101	genome.wustl.edu	37	chr13	67801527	67801527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggttatcatttacatcgGtgacattgatggtaaccgtt	10	14	11	6	2	1	2	1	2	0	0	2	3	1	2	1	3	2	3	1	3	3	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr13:67801527G>T	ENST00000377865.2	-	1	1180	c.1046C>A	c.(1045-1047)aCc>aAc	p.T349N	PCDH9_ENST00000377861.3_Missense_Mutation_p.T349N|PCDH9_ENST00000544246.1_Missense_Mutation_p.T349N|PCDH9_ENST00000456367.1_Missense_Mutation_p.T349N|PCDH9_ENST00000328454.5_Missense_Mutation_p.T349N			Q9HC56	PCDH9_HUMAN	protocadherin 9	349	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATTTACATCGGTGACATTGAT	0.453																																																	0													143	138	140					13																	67801527		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1046C>A	13.37:g.67801527G>T	ENSP00000367096:p.Thr349Asn		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T349N	ENST00000377865.2	37	c.1046	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125676	0.56721	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	6.17	6.17	0.99709	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	L	0.50919	1.6	0.80722	D	1	B;D;D;D	0.71674	0.208;0.998;0.998;0.998	B;D;D;D	0.80764	0.389;0.99;0.989;0.994	T	0.60439	-0.7263	10	0.45353	T	0.12	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	349;349;349;349	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	349	ENSP00000442186:T349N;ENSP00000367096:T349N;ENSP00000401699:T349N;ENSP00000332060:T349N;ENSP00000367092:T349N	ENSP00000332060:T349N	T	-	2	0	PCDH9	66699528	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACC	PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000184226		0.453	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	60	0	G	NM_203487		67801527	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	67801527	G	T	67801527	3	4	170	1	0	0	0	0	1	0	0	0	11557	1261	44	3	2683	3	PCDH9	13	67801527	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	7365896	67801527	47368351	197	42868											
SCEL	8796	genome.wustl.edu	37	chr13	78211301	78211301	+	Missense_Mutation	SNP	A	A	G	1	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	agaatatctctggaaaatacAtacaaactgtttattcaact	17	13	4	7	0	2	1	1	0	1	1	3	2	2	2	0	1	4	1	0	1	9	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr13:78211301A>G	ENST00000349847.3	+	30	1894	c.1810A>G	c.(1810-1812)Ata>Gta	p.I604V	SCEL_ENST00000377246.3_Missense_Mutation_p.I584V|SCEL_ENST00000535157.1_Missense_Mutation_p.I562V	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	604					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGGAAAATACATACAAACTGT	0.313																																																	0													104	97	99					13																	78211301		2203	4297	6500	SO:0001583	missense	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1810A>G	13.37:g.78211301A>G	ENSP00000302579:p.Ile604Val		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.I604V	ENST00000349847.3	37	c.1810	CCDS9459.1	13	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678018	0.68042	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.81163	-1.46;-1.46;-1.46	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000005	D	0.88366	0.6417	M	0.72118	2.19	0.29876	N	0.826404	D;D;D	0.69078	0.994;0.997;0.996	D;D;D	0.79784	0.954;0.993;0.969	D	0.85714	0.1321	10	0.45353	T	0.12	-19.8417	14.3286	0.66537	1.0:0.0:0.0:0.0	.	562;584;604	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	V	562;584;604	ENSP00000437895:I562V;ENSP00000366454:I584V;ENSP00000302579:I604V	ENSP00000302579:I604V	I	+	1	0	SCEL	77109302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.955000	0.56715	2.263000	0.75096	0.533000	0.62120	ATA	SCEL	-	NULL	ENSG00000136155		0.313	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	-	0	58	0	A	NM_144777		78211301	1	tier1	-	no_errors	ENST00000349847	ensembl	human	known	74_37	missense	60.00	12	18	SNP	1.000	G	G	78211301	A	G	78211301	3	3	170	1	0	0	0	0	1	0	0	0	13933	217	8	4	1924	4	SCEL	13	78211301	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	10409774	78211301	36958577	198	42869											
OR4K1	79544	genome.wustl.edu	37	chr14	20403872	20403872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgagtttgtacttttggGactctctaattcctggggac	6	16	11	8	0	2	1	0	1	2	0	4	3	3	3	1	3	1	2	1	3	2	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr14:20403872G>T	ENST00000285600.4	+	1	106	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTACTTTTGGGACTCTCTAAT	0.343																																																	0													354	399	384					14																	20403872		2203	4300	6503	SO:0001583	missense	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.47G>T	14.37:g.20403872G>T	ENSP00000285600:p.Gly16Val		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G16V	ENST00000285600.4	37	c.47	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	13.84	2.356938	0.41801	.	.	ENSG00000155249	ENST00000285600	T	0.00659	5.94	4.77	3.88	0.44766	.	0.000000	0.49916	D	0.000138	T	0.05868	0.0153	H	0.94264	3.515	0.50813	D	0.999892	D	0.67145	0.996	D	0.65443	0.935	T	0.00880	-1.1529	10	0.87932	D	0	.	10.9681	0.47424	0.0925:0.0:0.9075:0.0	.	16	Q8NGD4	OR4K1_HUMAN	V	16	ENSP00000285600:G16V	ENSP00000285600:G16V	G	+	2	0	OR4K1	19473712	1.000000	0.71417	0.999000	0.59377	0.343000	0.28985	3.427000	0.52785	1.234000	0.43709	0.561000	0.74099	GGA	OR4K1	-	NULL	ENSG00000155249		0.343	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	-	0	105	0	G			20403872	1	tier1	-	no_errors	ENST00000285600	ensembl	human	known	74_37	missense	5.47	190	11	SNP	0.700	T	T	20403872	G	T	20403872	3	4	170	1	0	0	0	0	1	0	0	0	11106	1174	41	3	49	3	OR4K1	14	20403872	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09		20403872	86945668	199	42870											
LRFN5	145581	genome.wustl.edu	37	chr14	42360949	42360949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcctctaccactacctctGctttgcctccttcctggact	5	14	4	18	0	2	0	0	0	2	0	5	1	5	1	6	1	4	1	6	1	2	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr14:42360949G>T	ENST00000298119.4	+	4	3071	c.1882G>T	c.(1882-1884)Gct>Tct	p.A628S	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	628						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)		CACTACCTCTGCTTTGCCTCC	0.473										HNSCC(30;0.082)																																							0													130	106	114					14																	42360949		2203	4300	6503	SO:0001583	missense	0			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.1882G>T	14.37:g.42360949G>T	ENSP00000298119:p.Ala628Ser		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A628S	ENST00000298119.4	37	c.1882	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995699	0.35226	.	.	ENSG00000165379	ENST00000298119	T	0.48522	0.81	5.9	4.99	0.66335	.	0.111905	0.39834	N	0.001253	T	0.27594	0.0678	N	0.08118	0	0.80722	D	1	B	0.16603	0.018	B	0.17098	0.017	T	0.08229	-1.0732	10	0.12103	T	0.63	.	14.7227	0.69320	0.0:0.1458:0.8542:0.0	.	628	Q96NI6	LRFN5_HUMAN	S	628	ENSP00000298119:A628S	ENSP00000298119:A628S	A	+	1	0	LRFN5	41430699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.527000	0.53517	1.472000	0.48140	0.650000	0.86243	GCT	LRFN5	-	NULL	ENSG00000165379		0.473	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1		0	61	0	G	NM_152447		42360949	1			no_errors	ENST00000298119	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	42360949	G	T	42360949	3	4	170	1	0	0	0	0	1	0	0	0	8976	1319	46	3	1888	3	LRFN5	14	42360949	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	21957077	42360949	64988591	200	42871											
TRMT5	145389	genome.wustl.edu	37	chr14	61446377	61446377	+	5'Flank	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaagttttgtcatgcctCggacatcagaaggtggtgaa	11	12	11	7	1	3	2	3	1	0	1	4	3	3	3	1	3	1	1	1	3	4	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr14:61446377C>A	ENST00000267488.4	+	0	0				SLC38A6_ENST00000354886.2_5'Flank|TRMT5_ENST00000261249.6_Missense_Mutation_p.R80L|SLC38A6_ENST00000456840.2_5'Flank|RP11-193F5.1_ENST00000553946.1_RNA	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGTCATGCCTCGGACATCAGA	0.378																																																	0													190	186	187					14																	61446377		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335		14.37:g.61446377C>A	Exception_encountered		C9JWA6|Q86SY5	Missense_Mutation	SNP	pfam_tRNA_Trfase_Trm5/Tyw2	p.R80L	ENST00000267488.4	37	c.239	CCDS9751.1	14	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028970	0.93518	.	.	ENSG00000126814	ENST00000261249;ENST00000553903;ENST00000555420	T	0.33216	1.42	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	M	0.81497	2.545	0.80722	D	1	P	0.48589	0.912	P	0.53722	0.733	T	0.60806	-0.7190	10	0.87932	D	0	-14.2982	17.938	0.89018	0.0:1.0:0.0:0.0	.	80	Q32P41	TRM5_HUMAN	L	80;108;107	ENSP00000261249:R80L	ENSP00000261249:R80L	R	-	2	0	TRMT5	60516130	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.246000	0.78247	2.533000	0.85409	0.655000	0.94253	CGA	TRMT5	-	NULL	ENSG00000126814		0.378	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT5	HGNC	protein_coding	OTTHUMT00000276957.1	-	0	24	0	C			61446377	-1	tier1	-	no_errors	ENST00000261249	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	A	A	61446377	C	A	61446377	1	1	170	0	1	0	0	0	0	0	0	0	16615	884	31	2		2	TRMT5	14	61446377	5'Flank	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	19085428	61446377	45903163	201	42872											
MPP5	64398	genome.wustl.edu	37	chr14	67787942	67787942	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtacggcaagtgatcaactCtggcaaaatatgtcttttaa	13	13	8	7	1	3	1	1	1	2	0	3	1	3	1	0	2	2	3	0	2	7	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr14:67787942C>G	ENST00000261681.4	+	13	2367	c.1706C>G	c.(1705-1707)tCt>tGt	p.S569C	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.S535C	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	569	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		GTGATCAACTCTGGCAAAATA	0.378																																																	0													171	168	169					14																	67787942		2203	4300	6503	SO:0001583	missense	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1706C>G	14.37:g.67787942C>G	ENSP00000261681:p.Ser569Cys		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.S569C	ENST00000261681.4	37	c.1706	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630474	0.87660	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.18657	2.2;2.2	5.14	5.14	0.70334	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.053969	0.85682	D	0.000000	T	0.51483	0.1677	M	0.84082	2.675	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	T	0.59172	-0.7504	10	0.87932	D	0	.	18.6175	0.91308	0.0:1.0:0.0:0.0	.	569	Q8N3R9	MPP5_HUMAN	C	569;535	ENSP00000261681:S569C;ENSP00000451488:S535C	ENSP00000261681:S569C	S	+	2	0	MPP5	66857695	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.880000	0.69698	2.364000	0.80123	0.563000	0.77884	TCT	MPP5	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000072415		0.378	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	-	0	69	0	C	NM_022474		67787942	1	tier1	-	no_errors	ENST00000261681	ensembl	human	known	74_37	missense	45.05	50	41	SNP	1.000	G	G	67787942	C	G	67787942	3	3	170	1	0	0	0	0	1	0	0	0	9775	913	32	5	1748	5	MPP5	14	67787942	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	6341565	67787942	39561598	202	42873											
DCAF5	8816	genome.wustl.edu	37	chr14	69522207	69522207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcgtagtcatgcgacaggCcactcccactgttcagcaca	9	8	10	14	2	2	0	2	0	0	0	3	1	3	0	2	2	2	3	2	2	1	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr14:69522207C>T	ENST00000341516.5	-	9	1343	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D	DCAF5_ENST00000554215.1_Missense_Mutation_p.G317D|DCAF5_ENST00000556847.1_Missense_Mutation_p.G317D|DCAF5_ENST00000557386.1_Missense_Mutation_p.G398D|DCAF5_ENST00000553293.1_5'UTR	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	399					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						ATGCGACAGGCCACTCCCACT	0.577																																																	0													152	143	146					14																	69522207		2203	4300	6503	SO:0001583	missense	0			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.1196G>A	14.37:g.69522207C>T	ENSP00000341351:p.Gly399Asp		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G399D	ENST00000341516.5	37	c.1196	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343306	0.61073	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.69306	-0.39;-0.22;-0.22;0.24	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	N	0.24115	0.695	0.80722	D	1	D;B	0.57571	0.98;0.355	P;B	0.58577	0.841;0.142	T	0.71859	-0.4465	10	0.51188	T	0.08	-25.0252	19.5403	0.95271	0.0:1.0:0.0:0.0	.	398;399	G3V4J7;Q96JK2	.;DCAF5_HUMAN	D	399;317;317;398	ENSP00000341351:G399D;ENSP00000451551:G317D;ENSP00000452052:G317D;ENSP00000451845:G398D	ENSP00000341351:G399D	G	-	2	0	DCAF5	68591960	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.336000	0.79245	2.623000	0.88846	0.561000	0.74099	GGC	DCAF5	-	NULL	ENSG00000139990		0.577	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	-	0	61	0	C	NM_003861		69522207	-1	tier1	-	no_errors	ENST00000341516	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	69522207	C	T	69522207	3	4	170	1	0	0	0	0	1	0	0	0	4282	739	26	3	1636	3	DCAF5	14	69522207	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	1734265	69522207	37827333	203	42874											
DDX24	57062	genome.wustl.edu	37	chr14	94517537	94517537	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactgacacacttgaccagTtaatttgcacttgtacttgg	10	14	7	10	0	1	2	1	2	0	0	1	2	1	2	1	1	2	3	1	1	2	6	rs367601031		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr14:94517537T>G	ENST00000330836.5	-	9	2711	c.2580A>C	c.(2578-2580)taA>taC	p.*860Y	DDX24_ENST00000544005.1_Nonstop_Mutation_p.*610Y|DDX24_ENST00000555054.1_Nonstop_Mutation_p.*817Y|DDX24_ENST00000553400.1_5'UTR	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	0					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)		ACTTGACCAGTTAATTTGCAC	0.493											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													88	92	91					14																	94517537		2203	4299	6502	SO:0001578	stop_lost	0			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.2580A>C	14.37:g.94517537T>G		1306	E7EMJ4|Q4V9L5	Nonstop_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.*860Y	ENST00000330836.5	37	c.2580	CCDS9918.1	14	.	.	.	.	.	.	.	.	.	.	T	14.26	2.481999	0.44147	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	.	.	.	4.61	0.881	0.19166	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.3209	0.07049	0.174:0.3167:0.0:0.5093	.	.	.	.	Y	860;610;805;486;817;764	.	.	X	-	3	2	DDX24	93587290	0.047000	0.20315	0.000000	0.03702	0.395000	0.30598	0.645000	0.24782	0.056000	0.16144	0.459000	0.35465	TAA	DDX24	-	NULL	ENSG00000089737		0.493	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX24	HGNC	protein_coding	OTTHUMT00000412861.1		0	97	0	T	NM_020414		94517537	-1			no_errors	ENST00000330836	ensembl	human	known	74_37	nonstop	7.69	60	5	SNP	0.002	G	G	94517537	T	G	94517537	4	3	170	1	0	0	0	0	0	0	0	0	4360	1732	60	4	3	4	DDX24	14	94517537	Nonstop_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	24995330	94517537	12832003	204	42875											
BEGAIN	57596	genome.wustl.edu	37	chr14	101012872	101012872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtgaccttctccagttcctCctgcgcgcgccgcagctcga	4	9	10	18	6	1	1	0	1	1	0	5	2	3	1	5	0	2	3	5	0	0	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr14:101012872C>T	ENST00000355173.2	-	3	213	c.142G>A	c.(142-144)Gag>Aag	p.E48K	BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000443071.2_Missense_Mutation_p.E48K|BEGAIN_ENST00000556751.1_5'UTR	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	48						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)				TCCAGTTCCTCCTGCGCGCGC	0.731																																					NSCLC(159;1889 2010 9965 27479 40101)												0													51	50	50					14																	101012872		2203	4300	6503	SO:0001583	missense	0			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.142G>A	14.37:g.101012872C>T	ENSP00000347301:p.Glu48Lys		Q9NPU3|Q9P282	Missense_Mutation	SNP	superfamily_Prefoldin	p.E48K	ENST00000355173.2	37	c.142	CCDS9962.1	14	.	.	.	.	.	.	.	.	.	.	c	37	6.225159	0.97390	.	.	ENSG00000183092	ENST00000355173;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000557378;ENST00000554140	T;T;T;T;T;T	0.81247	0.75;0.75;-1.47;-1.47;-1.47;-1.47	4.59	4.59	0.56863	.	0.000000	0.85682	U	0.000000	D	0.88735	0.6517	M	0.75777	2.31	0.58432	D	0.999999	D	0.67145	0.996	D	0.76071	0.987	D	0.89950	0.4079	10	0.62326	D	0.03	.	14.9651	0.71184	0.0:1.0:0.0:0.0	.	48	Q9BUH8	BEGIN_HUMAN	K	48;48;60;48;48;67	ENSP00000347301:E48K;ENSP00000411124:E48K;ENSP00000451397:E60K;ENSP00000452157:E48K;ENSP00000450722:E48K;ENSP00000451125:E67K	ENSP00000347301:E48K	E	-	1	0	BEGAIN	100082625	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.942000	0.75928	2.105000	0.64084	0.473000	0.43528	GAG	BEGAIN	-	superfamily_Prefoldin	ENSG00000183092		0.731	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	HGNC	protein_coding	OTTHUMT00000414329.1	-	0	53	0	C	NM_020836		101012872	-1	tier1	-	no_errors	ENST00000355173	ensembl	human	known	74_37	missense	26.00	37	13	SNP	1.000	T	T	101012872	C	T	101012872	3	4	170	1	0	0	0	0	1	0	0	0	1398	864	30	3	1659	3	BEGAIN	14	101012872	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	6495335	101012872	6336668	205	42876											
CEP152	22995	genome.wustl.edu	37	chr15	49031175	49031175	+	Frame_Shift_Del	DEL	T	T	-																															aaaccaaagcctccttcaccTtcacaaggaacaaactcagg																								rs370946718		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr15:49031175delT	ENST00000380950.2	-	27	4591	c.4404delA	c.(4402-4404)gaafs	p.E1468fs	CEP152_ENST00000399334.3_Frame_Shift_Del_p.E1412fs	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1468					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)		CTCCTTCACCTTCACAAGGAA	0.443																																																	0													117	112	113					15																	49031175		1905	4127	6032	SO:0001589	frameshift_variant	0			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.4404delA	15.37:g.49031175delT	ENSP00000370337:p.Glu1468fs		E7ER66|Q17RV1|Q6NTA0	Frame_Shift_Del	DEL	NULL	p.G1469fs	ENST00000380950.2	37	c.4404	CCDS58361.1	15																																																																																			CEP152	-	NULL	ENSG00000103995		0.443	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1		0	48	0	T	NM_014985		49031175	-1	tier1		no_errors	ENST00000380950	ensembl	human	known	74_37	frame_shift_del	13.33	13	2	DEL	0.779	-	-	49031175	T	-	49031175	7	5	170	1	0	1	0	1	0	0	0	0	3255	1606	56	0	732	0	CEP152	15	49031175	Frame_Shift_Del	DEL	T	TCGA-VR-A8EZ-01A-11D-A36J-09		49031175	53500217	206	42877											
GCOM1	100820829	genome.wustl.edu	37	chr15	57976616	57976616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagccaaacaggcaggactCgtgaaattgtgatgccttct	11	10	10	10	1	2	2	1	2	1	0	3	3	2	3	2	2	3	1	2	2	2	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr15:57976616C>T	ENST00000267853.5	+	13	1415	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	MYZAP_ENST00000380565.4_Missense_Mutation_p.R413C|GCOM1_ENST00000572390.1_Missense_Mutation_p.R413C|GCOM1_ENST00000396180.1_Missense_Mutation_p.R410C|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000574161.1_Missense_Mutation_p.R441C|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380560.2_Missense_Mutation_p.R372C|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000587652.1_Intron|GCOM1_ENST00000380568.3_Intron			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	441					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)		p.R441C(1)									AGGCAGGACTCGTGAAATTGT	0.428																																																	1	Substitution - Missense(1)	lung(1)											107	108	108					15																	57976616		2192	4292	6484	SO:0001583	missense	0			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"myocardium-enriched zonula adherens protein"	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.1321C>T	15.37:g.57976616C>T	ENSP00000267853:p.Arg441Cys		D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	NULL	p.R441C	ENST00000267853.5	37	c.1321	CCDS10162.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.382035|4.382035	0.82792|0.82792	.|.	.|.	ENSG00000137878|ENSG00000137878	ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565|ENST00000461709	T;T;T;T|T	0.26957|0.30981	1.81;1.82;1.79;1.7|1.51	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	T|T	0.34279|0.34279	0.0892|0.0892	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	P;P|.	0.53861|.	0.736;0.736|.	T|T	0.10019|0.10019	-1.0648|-1.0648	9|7	0.66056|0.87932	D|D	0.02|0	.|.	15.4858|15.4858	0.75564|0.75564	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	413;441|.	P0CAP1-4;P0CAP1|.	.;GCOM1_HUMAN|.	C|L	410;372;441;413|122	ENSP00000379483:R410C;ENSP00000369933:R372C;ENSP00000267853:R441C;ENSP00000369939:R413C|ENSP00000431396:S122L	ENSP00000267853:R441C|ENSP00000431396:S122L	R|S	+|+	1|2	0|0	GCOM1|GCOM1	55763908|55763908	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.862000|0.862000	0.49288|0.49288	4.205000|4.205000	0.58466|0.58466	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	CGT|TCG	MYZAP	-	NULL	ENSG00000263155		0.428	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYZAP	HGNC	protein_coding	OTTHUMT00000255716.2		0	45	0	C	NM_001018100		57976616	1			no_errors	ENST00000267853	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	57976616	C	T	57976616	3	4	170	1	0	0	0	0	1	0	0	0	6329	884	31	1	1371	1	GCOM1	15	57976616	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	8945441	57976616	44554776	207	42878											
TLN2	83660	genome.wustl.edu	37	chr15	63131166	63131166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtgaaaaccaagtttgtgGggggcattgctcaggtttgt	9	13	14	5	0	1	1	1	1	0	0	1	1	1	1	1	4	2	4	1	4	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr15:63131166G>T	ENST00000561311.1	+	57	7716	c.7486G>T	c.(7486-7488)Ggg>Tgg	p.G2496W	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.G2496W			Q9Y4G6	TLN2_HUMAN	talin 2	2496	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				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						CAAGTTTGTGGGGGGCATTGC	0.433																																																	0													109	107	108					15																	63131166		2203	4300	6503	SO:0001583	missense	0			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.7486G>T	15.37:g.63131166G>T	ENSP00000453508:p.Gly2496Trp		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.G2496W	ENST00000561311.1	37	c.7486	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038281	0.75617	.	.	ENSG00000171914	ENST00000306829	T	0.44881	0.91	5.67	4.75	0.60458	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73445	-0.3980	10	0.87932	D	0	-22.9381	14.7185	0.69289	0.0697:0.0:0.9303:0.0	.	112;2496	B4DGF3;Q9Y4G6	.;TLN2_HUMAN	W	2496	ENSP00000303476:G2496W	ENSP00000303476:G2496W	G	+	1	0	TLN2	60918219	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.809000	0.99208	1.394000	0.46624	0.557000	0.71058	GGG	TLN2	-	pfam_ILWEQ_dom,smart_ILWEQ_dom,pfscan_ILWEQ_dom	ENSG00000171914		0.433	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2		0	68	0	G			63131166	1			no_errors	ENST00000306829	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T	T	63131166	G	T	63131166	3	4	170	1	0	0	0	0	1	0	0	0	15995	1232	43	3	7704	3	TLN2	15	63131166	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	5154550	63131166	39400226	208	42879											
IGDCC4	57722	genome.wustl.edu	37	chr15	65689261	65689261	+	Missense_Mutation	SNP	T	T	C	0	1	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	agacgccggagtgccagggcTgcgcgttggcaattagtagg	8	7	17	9	4	0	1	0	0	0	1	0	2	0	2	2	4	2	4	2	4	3	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr15:65689261T>C	ENST00000352385.2	-	6	1117	c.908A>G	c.(907-909)cAg>cGg	p.Q303R		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	303	Ig-like C2-type 3.					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						GTGCCAGGGCTGCGCGTTGGC	0.672																																																	0													38	36	37					15																	65689261		2191	4290	6481	SO:0001583	missense	0				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.908A>G	15.37:g.65689261T>C	ENSP00000319623:p.Gln303Arg		Q9HCE4	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q303R	ENST00000352385.2	37	c.908	CCDS10206.1	15	.	.	.	.	.	.	.	.	.	.	T	4.004	-0.001867	0.07819	.	.	ENSG00000103742	ENST00000352385	T	0.27402	1.67	4.15	3.0	0.34707	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.579949	0.17081	N	0.187778	T	0.20740	0.0499	L	0.33485	1.01	0.29571	N	0.849886	B	0.27416	0.178	B	0.27380	0.079	T	0.21552	-1.0242	10	0.11182	T	0.66	-7.8206	10.5973	0.45345	0.0:0.0:0.1622:0.8378	.	303	Q8TDY8	IGDC4_HUMAN	R	303	ENSP00000319623:Q303R	ENSP00000319623:Q303R	Q	-	2	0	IGDCC4	63476314	1.000000	0.71417	0.996000	0.52242	0.035000	0.12851	3.973000	0.56845	0.446000	0.26666	0.379000	0.24179	CAG	IGDCC4	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000103742		0.672	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	-	0	63	0	T	NM_020962		65689261	-1	tier1	-	no_errors	ENST00000352385	ensembl	human	novel	74_37	missense	45.19	57	47	SNP	1.000	C	C	65689261	T	C	65689261	3	2	170	1	0	0	0	0	1	0	0	0	7596	1580	55	4	2904	4	IGDCC4	15	65689261	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	2558095	65689261	36842131	209	42880											
LMAN1L	79748	genome.wustl.edu	37	chr15	75116811	75116811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcttcttcggctacgtGcacttcaggtgggccacccc	5	10	12	14	2	2	0	1	0	1	0	3	0	2	0	3	4	2	4	3	4	2	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr15:75116811G>A	ENST00000309664.5	+	13	1582	c.1443G>A	c.(1441-1443)gtG>gtA	p.V481V	LMAN1L_ENST00000379709.3_Silent_p.V469V|RP11-414J4.2_ENST00000564823.1_RNA|CPLX3_ENST00000395018.4_5'Flank	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	481						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						TCGGCTACGTGCACTTCAGGT	0.587																																																	0													107	104	105					15																	75116811		2197	4295	6492	SO:0001819	synonymous_variant	0			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.1443G>A	15.37:g.75116811G>A			Q6UWN2	Silent	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.V481	ENST00000309664.5	37	c.1443	CCDS10270.1	15																																																																																			LMAN1L	-	NULL	ENSG00000140506		0.587	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4		0	50	0	G			75116811	1			no_errors	ENST00000309664	ensembl	human	known	74_37	silent	10.20	44	5	SNP	0.076	A	A	75116811	G	A	75116811	2	1	170	1	0	0	0	0	0	0	0	1	8867	1306	46	3		3	LMAN1L	15	75116811	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	9427550	75116811	27414581	210	42881											
CSPG4	1464	genome.wustl.edu	37	chr15	75985560	75985560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcacctccaggtggttctCaccgaagaaggaagctgtgt	10	8	13	10	1	1	1	1	0	1	1	3	3	2	2	3	4	1	3	3	4	3	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr15:75985560C>T	ENST00000308508.5	-	2	195	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	35	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						AGGTGGTTCTCACCGAAGAAG	0.627																																																	0													36	26	29					15																	75985560		2197	4294	6491	SO:0001583	missense	0			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.103G>A	15.37:g.75985560C>T	ENSP00000312506:p.Glu35Lys		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.E35K	ENST00000308508.5	37	c.103	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	20.6	4.014286	0.75161	.	.	ENSG00000173546	ENST00000308508	T	0.79352	-1.26	5.0	5.0	0.66597	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.204801	0.33457	N	0.004881	T	0.79118	0.4392	L	0.49126	1.545	0.44966	D	0.997983	D	0.57257	0.979	P	0.49999	0.628	T	0.81453	-0.0926	10	0.59425	D	0.04	.	15.4979	0.75669	0.0:1.0:0.0:0.0	.	35	Q6UVK1	CSPG4_HUMAN	K	35	ENSP00000312506:E35K	ENSP00000312506:E35K	E	-	1	0	CSPG4	73772615	1.000000	0.71417	0.986000	0.45419	0.790000	0.44656	7.589000	0.82641	2.346000	0.79739	0.555000	0.69702	GAG	CSPG4	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000173546		0.627	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	-	0	293	0	C	NM_001897		75985560	-1	tier1	-	no_errors	ENST00000308508	ensembl	human	known	74_37	missense	49.61	128	126	SNP	1.000	T	T	75985560	C	T	75985560	3	4	170	1	0	0	0	0	1	0	0	0	3969	835	29	3	6901	3	CSPG4	15	75985560	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	868749	75985560	26545832	211	42882											
KIF7	374654	genome.wustl.edu	37	chr15	90195944	90195944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggaggggctgaacgcagGcctggtacacggcctcctgc	8	5	15	13	2	0	1	0	1	0	0	1	2	1	2	3	6	3	3	3	6	3	1	rs552362795		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr15:90195944G>T	ENST00000394412.3	-	2	294	c.218C>A	c.(217-219)gCc>gAc	p.A73D		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	73	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGAACGCAGGCCTGGTACAC	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		19543	0		0	False		,,,				2504	0																0													78	82	81					15																	90195944		689	1590	2279	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.218C>A	15.37:g.90195944G>T	ENSP00000377934:p.Ala73Asp		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A73D	ENST00000394412.3	37	c.218	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137154	0.37728	.	.	ENSG00000166813	ENST00000394412	T	0.75050	-0.9	4.75	4.75	0.60458	Kinesin, motor domain (4);	.	.	.	.	T	0.56834	0.2012	N	0.04508	-0.205	0.47374	D	0.999408	P	0.51147	0.942	B	0.43413	0.419	T	0.62015	-0.6943	9	0.27785	T	0.31	.	17.3405	0.87294	0.0:0.0:1.0:0.0	.	73	Q2M1P5	KIF7_HUMAN	D	73	ENSP00000377934:A73D	ENSP00000377934:A73D	A	-	2	0	KIF7	87996948	0.001000	0.12720	0.994000	0.49952	0.344000	0.29017	0.926000	0.28804	2.183000	0.69458	0.655000	0.94253	GCC	KIF7	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000166813		0.637	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1		0	46	0	G	NM_198525		90195944	-1			no_errors	ENST00000394412	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	90195944	G	T	90195944	3	4	170	1	0	0	0	0	1	0	0	0	8336	1203	42	3	3885	3	KIF7	15	90195944	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	14210384	90195944	12335448	212	42883											
BLM	641	genome.wustl.edu	37	chr15	91295023	91295023	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	ctgttttactgtagataataGcgaaaagaagaagaatttgg	16	12	10	3	1	0	4	0	0	0	4	0	5	0	4	0	1	2	2	0	1	9	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr15:91295023G>C	ENST00000355112.3	+	4	924	c.806G>C	c.(805-807)aGc>aCc	p.S269T	BLM_ENST00000560509.1_Missense_Mutation_p.S269T	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	269					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)			GTAGATAATAGCGAAAAGAAG	0.338			"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													97	96	96					15																	91295023		2198	4297	6495	SO:0001583	missense	0	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.806G>C	15.37:g.91295023G>C	ENSP00000347232:p.Ser269Thr		Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S269T	ENST00000355112.3	37	c.806	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	G	5.973	0.363433	0.11296	.	.	ENSG00000197299	ENST00000355112	T	0.43688	0.94	5.81	-1.2	0.09554	.	1.207350	0.05679	N	0.590128	T	0.23846	0.0577	N	0.19112	0.55	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.12156	0.007;0.007	T	0.20240	-1.0281	10	0.11182	T	0.66	-16.9471	6.0732	0.19901	0.417:0.1311:0.4518:0.0	.	269;269	B2RAN0;P54132	.;BLM_HUMAN	T	269	ENSP00000347232:S269T	ENSP00000347232:S269T	S	+	2	0	BLM	89096027	0.000000	0.05858	0.002000	0.10522	0.545000	0.35147	-0.067000	0.11579	-0.104000	0.12154	-0.137000	0.14449	AGC	BLM	-	NULL	ENSG00000197299		0.338	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	-	0	45	0	G			91295023	1	tier1	-	no_errors	ENST00000355112	ensembl	human	known	74_37	missense	23.91	35	11	SNP	0.000	C	C	91295023	G	C	91295023	3	2	170	1	0	0	0	0	1	0	0	0	1447	971	34	5	816	5	BLM	15	91295023	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1099079	91295023	11236369	213	42884											
ARRDC4	91947	genome.wustl.edu	37	chr15	98512358	98512358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttttctttttaggagaaGctattccaatctatgcagaa	11	17	7	6	0	2	2	0	0	2	2	3	3	3	2	1	1	2	3	1	1	6	9			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr15:98512358G>T	ENST00000268042.6	+	5	795	c.631G>T	c.(631-633)Gct>Tct	p.A211S	ARRDC4_ENST00000538249.1_Missense_Mutation_p.A124S	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	211					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTTAGGAGAAGCTATTCCAAT	0.393																																																	0													51	56	54					15																	98512358		2197	4297	6494	SO:0001583	missense	0			BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.631G>T	15.37:g.98512358G>T	ENSP00000268042:p.Ala211Ser		Q6NSI9	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.A211S	ENST00000268042.6	37	c.631	CCDS10377.1	15	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521458	0.44866	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.16073	2.37;2.37	5.11	5.11	0.69529	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.09818	0.0241	N	0.04148	-0.265	0.58432	D	0.999995	P;P	0.48089	0.905;0.884	B;B	0.43331	0.416;0.292	T	0.22417	-1.0217	10	0.07990	T	0.79	-6.9062	18.889	0.92391	0.0:0.0:1.0:0.0	.	211;124	Q8NCT1;F5H824	ARRD4_HUMAN;.	S	124;211	ENSP00000443774:A124S;ENSP00000268042:A211S	ENSP00000268042:A211S	A	+	1	0	ARRDC4	96313362	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.117000	0.64667	2.539000	0.85634	0.591000	0.81541	GCT	ARRDC4	-	pfam_Arrestin_C-like,superfamily_Ig_E-set	ENSG00000140450		0.393	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC4	HGNC	protein_coding	OTTHUMT00000313535.1	-	0	53	0	G	NM_183376		98512358	1	tier1	-	no_errors	ENST00000268042	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	98512358	G	T	98512358	3	4	170	1	0	0	0	0	1	0	0	0	986	971	34	3	649	3	ARRDC4	15	98512358	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	7217335	98512358	4019034	214	42885											
MSLNL	401827	genome.wustl.edu	37	chr16	830591	830591	+	Intron	SNP	G	G	A	0	0	1	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	acaggcatgagactgtggatGcgtgcaggcacgcatgtgta	10	8	15	8	2	0	1	0	1	0	1	0	3	0	2	0	3	2	5	0	3	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:830591G>A	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.A137V			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GACTGTGGATGCGTGCAGGCA	0.567																																																	0													304	261	276					16																	830591		2178	4266	6444	SO:0001627	intron_variant	0					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-429C>T	16.37:g.830591G>A				Missense_Mutation	SNP	pfam_Mesothelin	p.A137V	ENST00000442466.1	37	c.410		16	.	.	.	.	.	.	.	.	.	.	-	7.004	0.555541	0.13436	.	.	ENSG00000162006	ENST00000293892	T	0.15603	2.41	1.33	-1.07	0.09968	.	.	.	.	.	T	0.10078	0.0247	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36792	-0.9733	5	.	.	.	.	3.4232	0.07401	0.1743:0.0:0.58:0.2456	.	.	.	.	V	137	ENSP00000293892:A137V	.	A	-	2	0	MSLNL	770592	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.290000	0.18975	-0.255000	0.09486	-0.460000	0.05396	GCA	MSLNL	-	NULL	ENSG00000162006		0.567	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	HGNC	protein_coding		-	0	94	0	G	NM_001025190		830591	-1	tier1	-	no_errors	ENST00000293892	ensembl	human	known	74_37	missense	29.76	59	25	SNP	0.000	A	A	830591	G	A	830591	1	1	170	0	1	0	0	0	0	0	0	0	9920	1319	46	3		3	MSLNL	16	830591	Intron	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09		830591	89524162	215	42886											
UMOD	7369	genome.wustl.edu	37	chr16	20355434	20355434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattttgatgttgaggtcacGgatgatgatctcatctgcca	9	14	11	7	1	3	4	2	4	2	0	4	6	3	5	1	2	1	1	1	2	0	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:20355434G>A	ENST00000570689.1	-	6	1389	c.1243C>T	c.(1243-1245)Cgt>Tgt	p.R415C	UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000302509.4_Missense_Mutation_p.R415C|UMOD_ENST00000424589.1_Missense_Mutation_p.R448C|UMOD_ENST00000396142.2_Missense_Mutation_p.R415C|UMOD_ENST00000396134.2_Missense_Mutation_p.R448C|UMOD_ENST00000396138.4_Missense_Mutation_p.R464C			P07911	UROM_HUMAN	uromodulin	415	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				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						TTGAGGTCACGGATGATGATC	0.547																																																	0													173	144	154					16																	20355434		2203	4300	6503	SO:0001583	missense	0			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.1243C>T	16.37:g.20355434G>A	ENSP00000460548:p.Arg415Cys		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.R448C	ENST00000570689.1	37	c.1342	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575449	0.65878	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.56	2.29	0.28610	Zona pellucida sperm-binding protein (3);	0.130764	0.35151	N	0.003408	D	0.93019	0.7778	M	0.92555	3.32	0.47037	D	0.99929	D;D	0.89917	1.0;1.0	D;D	0.74023	0.966;0.982	D	0.93514	0.6855	10	0.87932	D	0	-13.7945	12.2051	0.54348	0.0:0.0:0.4274:0.5726	.	448;415	E9PEA4;P07911	.;UROM_HUMAN	C	415;448;448;415;393;415	ENSP00000379438:R448C;ENSP00000416346:R448C;ENSP00000306279:R415C;ENSP00000379446:R415C	ENSP00000306279:R415C	R	-	1	0	UMOD	20262935	0.981000	0.34729	0.991000	0.47740	0.992000	0.81027	0.843000	0.27640	0.672000	0.31204	0.655000	0.94253	CGT	UMOD	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000169344		0.547	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1		0	25	0	G			20355434	-1			no_errors	ENST00000424589	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.996	A	A	20355434	G	A	20355434	3	1	170	1	0	0	0	0	1	0	0	0	17028	1116	39	1	703	1	UMOD	16	20355434	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	19524843	20355434	69999319	216	42887											
APOB48R	55911	genome.wustl.edu	37	chr16	28507452	28507452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggaggggaggaggccGggacagcctcaggaggggac	9	2	20	10	1	2	0	2	0	0	0	2	6	2	6	3	9	1	0	3	9	0	0	rs370148393		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:28507452G>T	ENST00000431282.1	+	3	1073	c.1063G>T	c.(1063-1065)Ggg>Tgg	p.G355W	APOBR_ENST00000328423.5_Missense_Mutation_p.G355W|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.G364W|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	355	Glu-rich.				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						GGAGGAGGCCGGGACAGCCTC	0.672																																																	0													14	17	16					16																	28507452		1944	4097	6041	SO:0001583	missense	0			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.1063G>T	16.37:g.28507452G>T	ENSP00000416094:p.Gly355Trp		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.G364W	ENST00000431282.1	37	c.1090		16	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718826	0.30503	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.60548	0.18;0.18	3.86	-2.49	0.06403	.	.	.	.	.	T	0.33059	0.0850	N	0.19112	0.55	0.09310	N	1	B	0.33777	0.425	B	0.27715	0.082	T	0.13980	-1.0489	9	0.72032	D	0.01	.	3.7884	0.08710	0.5999:0.0:0.2159:0.1841	.	355	Q9NS13	.	W	355	ENSP00000327669:G355W;ENSP00000416094:G355W	ENSP00000327669:G355W	G	+	1	0	APOBR	28414953	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.825000	0.04433	-0.783000	0.04534	-0.487000	0.04747	GGG	APOBR	-	NULL	ENSG00000184730		0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		-	0	25	0	G	NM_182804		28507452	1	tier1	-	no_errors	ENST00000564831	ensembl	human	known	74_37	missense	18.18	27	6	SNP	0.000	T	T	28507452	G	T	28507452	3	4	170	1	0	0	0	0	1	0	0	0	786	1116	39	2	1073	2	APOB48R	16	28507452	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	8152018	28507452	61847301	217	42888											
IL27	55911	genome.wustl.edu	37	chr16	28511194	28511194	+	IGR	SNP	C	C	T																															ctctcctcctcctcctcctcCtcttcctcctcctcctcctc																										TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:28511194C>T	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_Silent_p.E170E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						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						cctcctcctcctcttcctcct	0.677																																																	0													9	10	9					16																	28511194		2158	4227	6385	SO:0001628	intergenic_variant	0			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			16.37:g.28511194C>T			H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	superfamily_4_helix_cytokine-like_core	p.E170	ENST00000431282.1	37	c.510		16																																																																																			IL27	-	superfamily_4_helix_cytokine-like_core	ENSG00000197272		0.677	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	IL27	HGNC	protein_coding			0	32	0	C	NM_182804		28511194	-1			no_errors	ENST00000356897	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.003	T	T	28511194	C	T	28511194	1	4	170	0	1	0	0	0	0	0	0	0	7707	680	24	3		3	IL27	16	28511194	IGR	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	3742	28511194	61843559	218	42889	151	2									
IL27	55911	genome.wustl.edu	37	chr16	28511197	28511197	+	IGR	SNP	T	T	C																															tcctcctcctcctcctcctcTtcctcctcctcctcctccgg																										TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:28511197T>C	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_Silent_p.E169E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						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						cctcctcctcttcctcctcct	0.672																																																	0													8	9	9					16																	28511197		2149	4215	6364	SO:0001628	intergenic_variant	0			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			16.37:g.28511197T>C			H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	superfamily_4_helix_cytokine-like_core	p.E169	ENST00000431282.1	37	c.507		16																																																																																			IL27	-	superfamily_4_helix_cytokine-like_core	ENSG00000197272		0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	IL27	HGNC	protein_coding			0	31	0	T	NM_182804		28511197	-1			no_errors	ENST00000356897	ensembl	human	known	74_37	silent	15.79	16	3	SNP	0.052	C	C	28511197	T	C	28511197	1	2	170	0	1	0	0	0	0	0	0	0	7707	1606	56	4		4	IL27	16	28511197	IGR	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	3	28511197	61843556	219	42890	151	2									
HIRIP3	8479	genome.wustl.edu	37	chr16	30006911	30006911	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgggtgaactcctgcatctCcttctcccgcgccattttgc	5	12	8	16	3	2	1	0	1	2	0	5	1	3	1	4	1	3	1	4	1	1	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:30006911C>A	ENST00000279392.3	-	1	846	c.16G>T	c.(16-18)Gag>Tag	p.E6*	HIRIP3_ENST00000566471.1_5'UTR|HIRIP3_ENST00000564026.1_Nonsense_Mutation_p.E6*|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'UTR|INO80E_ENST00000304516.7_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	6					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCCTGCATCTCCTTCTCCCGC	0.652																																																	0													76	72	73					16																	30006911		2197	4300	6497	SO:0001587	stop_gained	0			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.16G>T	16.37:g.30006911C>A	ENSP00000279392:p.Glu6*		H3BSR3|O75707|O75708	Nonsense_Mutation	SNP	pfam_Histone_chaperone_domain_CHZ	p.E6*	ENST00000279392.3	37	c.16	CCDS10664.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.123278	0.97305	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	.	.	.	5.45	5.45	0.79879	.	0.231425	0.35179	N	0.003387	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-30.2303	16.8413	0.85970	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000279392:E6X	E	-	1	0	HIRIP3	29914412	0.993000	0.37304	0.996000	0.52242	0.995000	0.86356	4.083000	0.57643	2.835000	0.97688	0.650000	0.86243	GAG	HIRIP3	-	NULL	ENSG00000149929		0.652	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRIP3	HGNC	protein_coding	OTTHUMT00000255160.2		0	91	0	C	NM_003609		30006911	-1			no_errors	ENST00000279392	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	0.993	A	A	30006911	C	A	30006911	4	1	170	1	0	0	0	0	0	1	0	0	7148	864	30	3	1682	3	HIRIP3	16	30006911	Nonsense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	1495714	30006911	60347842	220	42891											
ZNF688	146542	genome.wustl.edu	37	chr16	30581255	30581255	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagccgcactcctcgaaGatgtctgggtagtgccggaa	8	8	13	12	3	2	1	1	0	1	1	4	3	3	2	3	2	2	3	3	2	3	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:30581255G>T	ENST00000223459.6	-	3	1917	c.813C>A	c.(811-813)atC>atA	p.I271I	AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000395219.1_Silent_p.I257I|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						ACTCCTCGAAGATGTCTGGGT	0.706																																																	0													33	35	34					16																	30581255		2063	4109	6172	SO:0001819	synonymous_variant	0			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.813C>A	16.37:g.30581255G>T			A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I271	ENST00000223459.6	37	c.813	CCDS10684.1	16																																																																																			ZNF688	-	NULL	ENSG00000229809		0.706	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF688	HGNC	protein_coding	OTTHUMT00000255544.2		0	47	0	G	NM_145271		30581255	-1			no_errors	ENST00000223459	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	T	T	30581255	G	T	30581255	2	4	170	1	0	0	0	0	0	0	0	1	18141	932	33	3		3	ZNF688	16	30581255	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	574344	30581255	59773498	221	42892											
VKORC1	79001	genome.wustl.edu	37	chr16	31105918	31105918	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	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	acagctgatggcggtgcccaCgtcgcagagcgcgcggtaat	8	6	15	12	6	0	2	0	1	0	1	1	2	0	2	1	3	3	3	1	3	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:31105918C>G	ENST00000394975.2	-	1	360	c.133G>C	c.(133-135)Gtg>Ctg	p.V45L	VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000319788.7_Missense_Mutation_p.V45L|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.V45L|VKORC1_ENST00000394971.3_5'Flank|VKORC1_ENST00000300851.6_Missense_Mutation_p.V45L|VKORC1_ENST00000354895.4_Missense_Mutation_p.V45L	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	45			V -> A (in CMRES; dbSNP:rs104894540). {ECO:0000269|PubMed:14765194}.		blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GCGGTGCCCACGTCGCAGAGC	0.697																																																	0													13	14	14					16																	31105918		2193	4276	6469	SO:0001583	missense	0				CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"vitamin K dependent clotting factors deficiency 2"	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.133G>C	16.37:g.31105918C>G	ENSP00000378426:p.Val45Leu		A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	pfam_VKOR,smart_VKOR	p.V45L	ENST00000394975.2	37	c.133	CCDS10703.1	16	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985463	0.53934	.	.	ENSG00000167397;ENSG00000167397;ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000300851;ENST00000319788;ENST00000354895;ENST00000394975;ENST00000529564	D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66	4.63	4.63	0.57726	Vitamin K epoxide reductase (2);	0.000000	0.43579	D	0.000555	D	0.95332	0.8485	N	0.05306	-0.075	0.80722	D	1	B;D;B	0.76494	0.363;0.999;0.431	B;D;B	0.83275	0.101;0.996;0.148	D	0.91496	0.5215	10	0.08837	T	0.75	6.8411	11.1283	0.48333	0.0:0.8132:0.1868:0.0	.	45;45;45	Q9BQB6-2;A6NIQ6;Q9BQB6	.;.;VKOR1_HUMAN	L	45	ENSP00000300851:V45L;ENSP00000326135:V45L;ENSP00000346969:V45L;ENSP00000378426:V45L;ENSP00000431371:V45L	ENSP00000431371:V45L	V	-	1	0	RP11-196G11.1;VKORC1	31013419	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.151000	0.31651	2.579000	0.87056	0.313000	0.20887	GTG	VKORC1	-	pfam_VKOR,smart_VKOR	ENSG00000167397		0.697	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VKORC1	HGNC	protein_coding	OTTHUMT00000108582.1	-	0	25	0	C	NM_024006		31105918	-1	tier1	-	no_errors	ENST00000394975	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G	G	31105918	C	G	31105918	3	3	170	1	0	0	0	0	1	0	0	0	17221	536	19	5	370	5	VKORC1	16	31105918	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	524663	31105918	59248835	222	42893											
ITGAD	3681	genome.wustl.edu	37	chr16	31424553	31424553	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcaccatccagaaaagctCactggaccagctaggtgtgt	11	9	9	12	0	2	1	2	0	1	1	4	2	3	2	3	2	2	2	3	2	3	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:31424553C>G	ENST00000389202.2	+	16	2031	c.1982C>G	c.(1981-1983)tCa>tGa	p.S661*		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	661					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						CAGAAAAGCTCACTGGACCAG	0.607																																																	0													88	82	84					16																	31424553		2197	4300	6497	SO:0001587	stop_gained	0			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.1982C>G	16.37:g.31424553C>G	ENSP00000373854:p.Ser661*		Q15575|Q15576	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S661*	ENST00000389202.2	37	c.1982	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429761	0.83776	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	.	.	.	5.24	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	9.8945	0.41309	0.0:0.9049:0.0:0.0951	.	.	.	.	X	677;661	.	ENSP00000373854:S661X	S	+	2	0	ITGAD	31332054	0.009000	0.17119	0.035000	0.18076	0.190000	0.23558	2.527000	0.45615	1.215000	0.43411	0.604000	0.83254	TCA	ITGAD	-	pfam_Integrin_alpha-2	ENSG00000156886		0.607	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	-	0	38	0	C	NM_005353		31424553	1	tier1	-	no_errors	ENST00000389202	ensembl	human	known	74_37	nonsense	32.26	21	10	SNP	0.006	G	G	31424553	C	G	31424553	4	3	170	1	0	0	0	0	0	1	0	0	7911	838	29	5	2044	5	ITGAD	16	31424553	Nonsense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	318635	31424553	58930200	223	42894											
C16orf87	388272	genome.wustl.edu	37	chr16	46858307	46858307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcacagttacctgtagaagGtggtgatttctctgagtgtt	8	15	11	7	0	2	3	1	2	1	1	3	3	2	3	1	2	1	3	1	2	3	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:46858307G>T	ENST00000285697.4	-	2	415	c.154C>A	c.(154-156)Cct>Act	p.P52T	C16orf87_ENST00000394806.2_Missense_Mutation_p.P52T|C16orf87_ENST00000564250.1_5'UTR	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	52										large_intestine(4)|urinary_tract(1)	5						CCTGTAGAAGGTGGTGATTTC	0.294																																																	0													85	85	85					16																	46858307		2203	4293	6496	SO:0001583	missense	0				CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.154C>A	16.37:g.46858307G>T	ENSP00000285697:p.Pro52Thr		Q63HN9	Missense_Mutation	SNP	pfam_UPF0547	p.P52T	ENST00000285697.4	37	c.154	CCDS10724.1	16	.	.	.	.	.	.	.	.	.	.	G	12.62	1.994082	0.35226	.	.	ENSG00000155330	ENST00000285697;ENST00000394806	.	.	.	5.69	-1.94	0.07571	.	0.224693	0.46758	D	0.000278	T	0.33876	0.0878	N	0.14661	0.345	0.80722	D	1	B	0.18741	0.03	B	0.23018	0.043	T	0.03717	-1.1010	9	0.72032	D	0.01	.	7.0862	0.25259	0.3832:0.0:0.5069:0.1099	.	52	Q6PH81	CP087_HUMAN	T	52	.	ENSP00000285697:P52T	P	-	1	0	C16orf87	45415808	1.000000	0.71417	0.984000	0.44739	0.943000	0.58893	0.959000	0.29240	-0.179000	0.10654	0.460000	0.39030	CCT	C16orf87	-	NULL	ENSG00000155330		0.294	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf87	HGNC	protein_coding	OTTHUMT00000255738.2		0	52	0	G	NM_001001436		46858307	-1			no_errors	ENST00000285697	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.971	T	T	46858307	G	T	46858307	3	4	170	1	0	0	0	0	1	0	0	0	1845	1261	44	3	322	3	C16orf87	16	46858307	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	15433754	46858307	43496446	224	42895											
HEATR3	55027	genome.wustl.edu	37	chr16	50104153	50104153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagatcagaacagaaattCtattgagaacatagccaatg	20	8	7	6	0	2	4	1	1	1	4	2	5	2	4	1	0	3	0	1	0	8	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:50104153C>A	ENST00000299192.7	+	4	655	c.464C>A	c.(463-465)tCt>tAt	p.S155Y	HEATR3_ENST00000285767.4_Missense_Mutation_p.S69Y	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	155										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AACAGAAATTCTATTGAGAAC	0.428																																																	0													105	98	100					16																	50104153		2198	4300	6498	SO:0001583	missense	0			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.464C>A	16.37:g.50104153C>A	ENSP00000299192:p.Ser155Tyr		A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S155Y	ENST00000299192.7	37	c.464	CCDS10739.1	16	.	.	.	.	.	.	.	.	.	.	C	5.496	0.276536	0.10403	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.66815	-0.23;-0.23	5.73	2.2	0.27929	Armadillo-type fold (1);	0.352176	0.33327	N	0.005030	T	0.32102	0.0818	N	0.02736	-0.51	0.09310	N	0.999994	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.30327	-0.9982	10	0.02654	T	1	.	7.6336	0.28253	0.3269:0.4435:0.2296:0.0	.	69;155	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	Y	69;155	ENSP00000285767:S69Y;ENSP00000299192:S155Y	ENSP00000285767:S69Y	S	+	2	0	HEATR3	48661654	0.631000	0.27164	0.002000	0.10522	0.095000	0.18619	1.174000	0.31932	0.852000	0.35287	-0.176000	0.13171	TCT	HEATR3	-	superfamily_ARM-type_fold	ENSG00000155393		0.428	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR3	HGNC	protein_coding	OTTHUMT00000256880.2		0	53	0	C	NM_182922		50104153	1			no_errors	ENST00000299192	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.243	A	A	50104153	C	A	50104153	3	1	170	1	0	0	0	0	1	0	0	0	7056	913	32	3	478	3	HEATR3	16	50104153	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	3245846	50104153	40250600	225	42896											
ADCY7	113	genome.wustl.edu	37	chr16	50325780	50325780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ttctttgatgggaggcttcaCgacacccagtgtccgggtgg	6	11	14	10	2	2	1	1	1	1	0	3	3	3	2	2	4	0	1	2	4	0	3	rs150887897	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:50325780C>T	ENST00000394697.2	+	4	849	c.509C>T	c.(508-510)aCg>aTg	p.T170M	ADCY7_ENST00000537579.1_Missense_Mutation_p.T170M|ADCY7_ENST00000538642.1_Missense_Mutation_p.T170M|ADCY7_ENST00000254235.3_Missense_Mutation_p.T170M|ADCY7_ENST00000566433.2_Missense_Mutation_p.T170M|ADCY7_ENST00000564044.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	170					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)		GGAGGCTTCACGACACCCAGT	0.652																																																	0								C	MET/THR	0,4396		0,0,2198	66	61	63		509	-2.2	0	16	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCY7	NM_001114.3	81	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	170/1081	50325780	1,12995	2198	4300	6498	SO:0001583	missense	0			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.509C>T	16.37:g.50325780C>T	ENSP00000378187:p.Thr170Met		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.T170M	ENST00000394697.2	37	c.509	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837988	0.32513	0.0	1.16E-4	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;D;T;D	0.82255	-1.09;-1.59;-1.1;-1.59	3.92	-2.19	0.07015	.	2.122320	0.03053	U	0.154796	T	0.72598	0.3480	N	0.22421	0.69	0.09310	N	1	P;P	0.47034	0.823;0.889	B;P	0.44897	0.097;0.463	T	0.63305	-0.6667	10	0.48119	T	0.1	.	2.6283	0.04936	0.3658:0.3593:0.1797:0.0953	.	170;170	P51828;F5H4D1	ADCY7_HUMAN;.	M	170	ENSP00000445046:T170M;ENSP00000378187:T170M;ENSP00000437788:T170M;ENSP00000254235:T170M	ENSP00000254235:T170M	T	+	2	0	ADCY7	48883281	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.301000	0.08232	-0.278000	0.09180	-0.258000	0.10820	ACG	ADCY7	-	NULL	ENSG00000121281		0.652	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3		0	48	0	C			50325780	1			no_errors	ENST00000254235	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	T	T	50325780	C	T	50325780	3	4	170	1	0	0	0	0	1	0	0	0	299	536	19	1	519	1	ADCY7	16	50325780	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	221627	50325780	40028973	226	42897											
EDC4	23644	genome.wustl.edu	37	chr16	67910487	67910487	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctagcatttcaagcaaggcCcggggaagcaacaaggtagg	13	6	13	9	1	2	0	1	0	1	0	2	1	2	1	1	5	4	4	1	5	7	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:67910487C>G	ENST00000358933.5	+	3	575	c.336C>G	c.(334-336)gcC>gcG	p.A112A	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	112					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)		CAAGCAAGGCCCGGGGAAGCA	0.532																																																	0													73	63	66					16																	67910487		2198	4300	6498	SO:0001819	synonymous_variant	0			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.336C>G	16.37:g.67910487C>G			A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A112	ENST00000358933.5	37	c.336	CCDS10849.1	16																																																																																			EDC4	-	superfamily_WD40_repeat_dom	ENSG00000038358		0.532	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2		0	31	0	C	NM_014329		67910487	1			no_errors	ENST00000358933	ensembl	human	known	74_37	silent	15.79	16	3	SNP	0.825	G	G	67910487	C	G	67910487	2	3	170	1	0	0	0	0	0	0	0	1	4922	610	22	5		5	EDC4	16	67910487	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	17584707	67910487	22444266	227	42898											
PRMT7	54496	genome.wustl.edu	37	chr16	68371380	68371380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggtgacatgccatgccGtgccaacatcctggtcacag	10	7	12	12	1	1	2	1	1	0	1	2	2	2	2	4	2	4	0	4	2	1	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:68371380G>T	ENST00000339507.5	+	7	1240	c.410G>T	c.(409-411)cGt>cTt	p.R137L	PRMT7_ENST00000449359.3_Missense_Mutation_p.R87L|PRMT7_ENST00000348497.4_Intron|PRMT7_ENST00000441236.1_Missense_Mutation_p.R87L|PRMT7_ENST00000564441.1_3'UTR			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	137	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)		ATGCCATGCCGTGCCAACATC	0.488																																																	0													88	83	85					16																	68371380		2198	4300	6498	SO:0001583	missense	0			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.410G>T	16.37:g.68371380G>T	ENSP00000343103:p.Arg137Leu		B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7	p.R137L	ENST00000339507.5	37	c.410	CCDS10866.1	16	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270148	0.80469	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000339507	T;T;T	0.23147	1.92;1.92;1.92	5.34	4.18	0.49190	.	0.264750	0.39909	N	0.001229	T	0.43255	0.1239	M	0.69463	2.115	0.80722	D	1	D;D;P	0.62365	0.988;0.991;0.865	P;D;P	0.66716	0.884;0.946;0.561	T	0.33343	-0.9872	10	0.72032	D	0.01	-17.1564	8.1911	0.31368	0.1889:0.0:0.8111:0.0	.	87;137;137	Q9NVM4-3;Q9NVM4;Q9NVM4-4	.;ANM7_HUMAN;.	L	87;87;137	ENSP00000414716:R87L;ENSP00000409324:R87L;ENSP00000343103:R137L	ENSP00000343103:R137L	R	+	2	0	PRMT7	66928881	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.390000	0.59646	2.509000	0.84616	0.484000	0.47621	CGT	PRMT7	-	pirsf_Arg_MeTrfase_PRMT7	ENSG00000132600		0.488	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT7	HGNC	protein_coding	OTTHUMT00000268892.3		0	37	0	G	NM_019023		68371380	1			no_errors	ENST00000339507	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.956	T	T	68371380	G	T	68371380	3	4	170	1	0	0	0	0	1	0	0	0	12583	1145	40	2	428	2	PRMT7	16	68371380	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	460893	68371380	21983373	228	42899											
KARS	3735	genome.wustl.edu	37	chr16	75669947	75669947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactccaattatgtctccccGacgcagtttgttattaatat	11	15	5	10	2	1	0	0	0	1	0	3	1	2	0	3	0	1	3	3	0	6	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:75669947G>A	ENST00000302445.3	-	5	571	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	KARS_ENST00000319410.5_Missense_Mutation_p.R206W|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	178					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)	p.R178W(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATGTCTCCCCGACGCAGTTTG	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											68	57	61					16																	75669947		2198	4300	6498	SO:0001583	missense	0			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.532C>T	16.37:g.75669947G>A	ENSP00000303043:p.Arg178Trp		A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II	p.R206W	ENST00000302445.3	37	c.616	CCDS10923.1	16	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460529	0.63513	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.23754	1.89;1.89	6.17	2.97	0.34412	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	H	0.98577	4.27	0.80722	D	1	D;P	0.53312	0.959;0.939	B;B	0.40009	0.262;0.316	T	0.72391	-0.4308	10	0.72032	D	0.01	-10.463	14.0804	0.64917	0.0:0.0:0.4956:0.5044	.	206;178	Q15046-2;Q15046	.;SYK_HUMAN	W	206;178	ENSP00000325448:R206W;ENSP00000303043:R178W	ENSP00000303043:R178W	R	-	1	2	KARS	74227448	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.466000	0.60148	0.910000	0.36722	0.655000	0.94253	CGG	KARS	-	pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Lys-tRNA-ligase_II	ENSG00000065427		0.373	KARS-001	KNOWN	basic|CCDS	protein_coding	KARS	HGNC	protein_coding	OTTHUMT00000269023.1		0	49	0	G	NM_005548		75669947	-1			no_errors	ENST00000319410	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.987	A	A	75669947	G	A	75669947	3	1	170	1	0	0	0	0	1	0	0	0	8007	1057	37	1	1301	1	KARS	16	75669947	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	7298567	75669947	14684806	229	42900											
CDH13	1012	genome.wustl.edu	37	chr16	83065787	83065787	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatatggcagaactcgtGattgtcggggggaaagacat	13	8	15	5	2	0	4	0	1	0	3	2	6	0	5	0	4	1	1	0	4	4	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:83065787G>T	ENST00000566620.1	+	3	620	c.330G>T	c.(328-330)gtG>gtT	p.V110V	CDH13_ENST00000431540.3_Silent_p.V110V|CDH13_ENST00000446376.2_Silent_p.V110V|CDH13_ENST00000565636.1_Silent_p.V110V|CDH13_ENST00000428848.3_Silent_p.V110V|CDH13_ENST00000268613.10_Silent_p.V157V|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	110					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)		CAGAACTCGTGATTGTCGGGG	0.507																																																	0													55	56	56					16																	83065787		1943	4122	6065	SO:0001819	synonymous_variant	0			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.330G>T	16.37:g.83065787G>T			A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V110	ENST00000566620.1	37	c.330	CCDS58486.1	16																																																																																			CDH13	-	superfamily_Cadherin-like	ENSG00000140945		0.507	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	-	0	68	0	G	NM_001257		83065787	1	tier1	-	no_errors	ENST00000566620	ensembl	human	known	74_37	silent	19.51	33	8	SNP	0.923	T	T	83065787	G	T	83065787	2	4	170	1	0	0	0	0	0	0	0	1	3106	1277	45	3		3	CDH13	16	83065787	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	7395840	83065787	7288966	230	42901											
TAF1C	9013	genome.wustl.edu	37	chr16	84215619	84215619	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgcgtccaggtttcccaAggaattggggattgtcacct	8	11	13	9	1	1	0	1	0	0	0	3	3	3	3	3	5	1	1	3	5	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr16:84215619A>T	ENST00000567759.1	-	8	949	c.767T>A	c.(766-768)cTt>cAt	p.L256H	TAF1C_ENST00000341690.6_Missense_Mutation_p.L189H|TAF1C_ENST00000378541.4_Missense_Mutation_p.L256H|TAF1C_ENST00000570117.1_De_novo_Start_OutOfFrame|TAF1C_ENST00000541676.1_Missense_Mutation_p.L189H|TAF1C_ENST00000566732.1_Missense_Mutation_p.L256H	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	256					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AGGTTTCCCAAGGAATTGGGG	0.547																																																	0													80	78	79					16																	84215619		2200	4300	6500	SO:0001583	missense	0			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.767T>A	16.37:g.84215619A>T	ENSP00000455265:p.Leu256His		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.L256H	ENST00000567759.1	37	c.767	CCDS32496.1	16	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603996	0.46423	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.65178	3.96;-0.14;-0.14	4.42	2.02	0.26589	.	0.693493	0.12910	N	0.428988	T	0.72447	0.3461	M	0.70595	2.14	0.09310	N	1	B;D;D;D	0.89917	0.206;1.0;1.0;1.0	B;D;D;D	0.91635	0.054;0.999;0.999;0.999	T	0.58814	-0.7570	10	0.72032	D	0.01	-7.4672	3.2362	0.06765	0.6807:0.0:0.1204:0.1988	.	256;256;256;189	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	H	256;189;189;256	ENSP00000367802:L256H;ENSP00000437900:L189H;ENSP00000345305:L189H	ENSP00000345305:L189H	L	-	2	0	TAF1C	82773120	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.075000	0.14686	0.283000	0.22279	-0.408000	0.06270	CTT	TAF1C	-	NULL	ENSG00000103168		0.547	TAF1C-001	KNOWN	basic|CCDS	protein_coding	TAF1C	HGNC	protein_coding	OTTHUMT00000433045.2	-	0	37	0	A	NM_139353		84215619	-1	tier1	-	no_errors	ENST00000378541	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.000	T	T	84215619	A	T	84215619	3	4	170	1	0	0	0	0	1	0	0	0	15568	72	3	5	1870	5	TAF1C	16	84215619	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	1149832	84215619	6139134	231	42902											
SMYD4	114826	genome.wustl.edu	37	chr17	1703457	1703457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccattaatatcgcatcCaggaattggggtctcaacga	11	11	8	11	2	1	0	1	0	1	0	5	2	3	1	2	3	1	1	2	3	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:1703457C>T	ENST00000305513.7	-	5	1398	c.1231G>A	c.(1231-1233)Gga>Aga	p.G411R		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	411	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						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						ATATCGCATCCAGGAATTGGG	0.423																																																	0													143	140	141					17																	1703457		2203	4300	6503	SO:0001583	missense	0			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.1231G>A	17.37:g.1703457C>T	ENSP00000304360:p.Gly411Arg		Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.G411R	ENST00000305513.7	37	c.1231	CCDS11013.1	17	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182886	0.57800	.	.	ENSG00000186532	ENST00000305513	T	0.79940	-1.32	6.03	6.03	0.97812	SET domain (2);	0.389073	0.30695	N	0.009072	D	0.90823	0.7118	M	0.83012	2.62	0.37182	D	0.903536	D	0.89917	1.0	D	0.85130	0.997	D	0.92544	0.6044	10	0.72032	D	0.01	-21.6614	18.7374	0.91761	0.0:1.0:0.0:0.0	.	411	Q8IYR2	SMYD4_HUMAN	R	411	ENSP00000304360:G411R	ENSP00000304360:G411R	G	-	1	0	SMYD4	1650207	0.893000	0.30496	0.993000	0.49108	0.492000	0.33523	5.071000	0.64382	2.861000	0.98227	0.655000	0.94253	GGA	SMYD4	-	pfam_SET_dom	ENSG00000186532		0.423	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4	-	0	55	0	C	XM_056082		1703457	-1	tier1	-	no_errors	ENST00000305513	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.986	T	T	1703457	C	T	1703457	3	4	170	1	0	0	0	0	1	0	0	0	14869	603	21	3	1211	3	SMYD4	17	1703457	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09		1703457	79491753	232	42903											
GSG2	83903	genome.wustl.edu	37	chr17	3629174	3629174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgcgctttgagcaccgaGacttacactgggggaacgtg	9	8	13	11	3	0	2	0	1	0	1	0	4	0	3	1	2	4	2	1	2	2	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:3629174G>C	ENST00000325418.4	+	1	1964	c.1945G>C	c.(1945-1947)Gac>Cac	p.D649H	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	649	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)										TGAGCACCGAGACTTACACTG	0.532																																																	0													95	83	87					17																	3629174		2203	4300	6503	SO:0001583	missense	0			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.1945G>C	17.37:g.3629174G>C	ENSP00000325290:p.Asp649His		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.D649H	ENST00000325418.4	37	c.1945	CCDS11036.1	17	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706564	0.68615	.	.	ENSG00000177602	ENST00000325418	D	0.93076	-3.16	4.7	4.7	0.59300	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.97920	0.9316	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98985	1.0806	10	0.87932	D	0	-33.1784	15.6646	0.77217	0.0:0.0:1.0:0.0	.	649	Q8TF76	HASP_HUMAN	H	649	ENSP00000325290:D649H	ENSP00000325290:D649H	D	+	1	0	GSG2	3575923	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.511000	0.67024	2.565000	0.86533	0.655000	0.94253	GAC	GSG2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000177602		0.532	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG2	HGNC	protein_coding	OTTHUMT00000207391.1	-	0	31	0	G	NM_031965		3629174	1	tier1	-	no_errors	ENST00000325418	ensembl	human	known	74_37	missense	71.43	2	5	SNP	1.000	C	C	3629174	G	C	3629174	3	2	170	1	0	0	0	0	1	0	0	0	6849	942	33	5	1947	5	GSG2	17	3629174	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1925717	3629174	77566036	233	42904											
KIAA0753	9851	genome.wustl.edu	37	chr17	6531694	6531694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggtggctacactgacagGctgcttgactctttgattcc	6	13	11	11	0	1	3	0	3	1	0	2	3	2	3	1	3	2	4	1	3	1	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:6531694G>T	ENST00000361413.3	-	3	819	c.461C>A	c.(460-462)gCc>gAc	p.A154D	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	154						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ACACTGACAGGCTGCTTGACT	0.468																																																	0													86	92	90					17																	6531694		2091	4210	6301	SO:0001583	missense	0				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.461C>A	17.37:g.6531694G>T	ENSP00000355250:p.Ala154Asp		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	NULL	p.A154D	ENST00000361413.3	37	c.461	CCDS42247.1	17	.	.	.	.	.	.	.	.	.	.	G	2.627	-0.287289	0.05605	.	.	ENSG00000198920	ENST00000361413	T	0.08458	3.09	5.35	-10.7	0.00240	.	1.606680	0.03278	N	0.185785	T	0.08313	0.0207	L	0.40543	1.245	0.09310	N	1	B	0.25105	0.118	B	0.28784	0.094	T	0.33214	-0.9877	10	0.12103	T	0.63	9.8704	18.1987	0.89831	0.0983:0.2401:0.6616:0.0	.	154	Q2KHM9	K0753_HUMAN	D	154	ENSP00000355250:A154D	ENSP00000355250:A154D	A	-	2	0	KIAA0753	6472418	0.000000	0.05858	0.000000	0.03702	0.552000	0.35366	-2.759000	0.00787	-3.570000	0.00139	-0.290000	0.09829	GCC	KIAA0753	-	NULL	ENSG00000198920		0.468	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3	-	0	55	0	G	NM_014804		6531694	-1	tier1	-	no_errors	ENST00000361413	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.000	T	T	6531694	G	T	6531694	3	4	170	1	0	0	0	0	1	0	0	0	8218	1203	42	3	2510	3	KIAA0753	17	6531694	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	2902520	6531694	74663516	234	42905											
FXR2	9513	genome.wustl.edu	37	chr17	7507177	7507177	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtcgctccagggtaacaAtttcattgtaggtggcatca	11	11	11	8	1	2	0	2	0	0	0	4	1	3	0	1	3	1	4	1	3	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:7507177A>C	ENST00000250113.7	-	5	681	c.347T>G	c.(346-348)aTt>aGt	p.I116S		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	116	Agenet-like 2.					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)		CAGGGTAACAATTTCATTGTA	0.468																																																	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											84	81	82					17																	7507177		1960	4151	6111	SO:0001583	missense	0			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.347T>G	17.37:g.7507177A>C	ENSP00000250113:p.Ile116Ser		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.I116S	ENST00000250113.7	37	c.347	CCDS45604.1	17	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591561	0.86953	.	.	ENSG00000129245	ENST00000250113	T	0.52754	0.65	5.59	5.59	0.84812	Agenet (1);	0.000000	0.85682	D	0.000000	T	0.71392	0.3334	M	0.85197	2.74	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.79784	0.993;0.993	T	0.76561	-0.2914	10	0.87932	D	0	.	14.0127	0.64507	1.0:0.0:0.0:0.0	.	116;116	Q86V09;P51116	.;FXR2_HUMAN	S	116	ENSP00000250113:I116S	ENSP00000250113:I116S	I	-	2	0	FXR2	7447902	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.049000	0.93837	2.254000	0.74563	0.459000	0.35465	ATT	FXR2	-	pfam_Agenet-like_dom	ENSG00000129245		0.468	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR2	HGNC	protein_coding	OTTHUMT00000441084.1		0	113	0	A			7507177	-1			no_errors	ENST00000250113	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	C	C	7507177	A	C	7507177	3	2	170	1	0	0	0	0	1	0	0	0	6140	101	4	4	1626	4	FXR2	17	7507177	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	975483	7507177	73688033	235	42906											
TP53	7157	genome.wustl.edu	37	chr17	7578542	7578542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaaaacatcttgttgaGggcaggggagtactgtagga	11	10	15	5	0	1	1	0	1	1	0	1	3	1	3	0	5	2	5	0	5	4	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:7578542G>C	ENST00000269305.4	-	5	577	c.388C>G	c.(388-390)Ctc>Gtc	p.L130V	TP53_ENST00000359597.4_Missense_Mutation_p.L130V|TP53_ENST00000445888.2_Missense_Mutation_p.L130V|TP53_ENST00000420246.2_Missense_Mutation_p.L130V|TP53_ENST00000413465.2_Missense_Mutation_p.L130V|TP53_ENST00000455263.2_Missense_Mutation_p.L130V|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	130	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L130F(16)|p.L130V(11)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.L37F(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)|p.L130fs*41(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATCTTGTTGAGGGCAGGGGAG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	65	Substitution - Missense(30)|Deletion - In frame(14)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)	large_intestine(11)|breast(9)|ovary(6)|upper_aerodigestive_tract(5)|lung(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|prostate(4)|bone(4)|urinary_tract(3)|oesophagus(3)|adrenal_gland(2)|stomach(2)|biliary_tract(1)|skin(1)|liver(1)											45	46	45					17																	7578542		2203	4300	6503	SO:0001583	missense	0	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.388C>G	17.37:g.7578542G>C	ENSP00000269305:p.Leu130Val		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L130V	ENST00000269305.4	37	c.388	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640631	0.67244	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.86953	2.85	0.58432	D	0.999992	D;D;D;P;D;D;D	0.76494	0.996;0.998;0.995;0.924;0.998;0.997;0.999	P;D;D;B;D;D;D	0.91635	0.899;0.999;0.98;0.388;0.999;0.999;0.989	D	0.96621	0.9459	10	0.87932	D	0	-29.0594	17.2272	0.86973	0.0:0.0:1.0:0.0	.	91;130;130;37;130;130;130	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	130;130;130;130;130;130;119;37;37;130	ENSP00000410739:L130V;ENSP00000352610:L130V;ENSP00000269305:L130V;ENSP00000398846:L130V;ENSP00000391127:L130V;ENSP00000391478:L130V;ENSP00000423862:L37V;ENSP00000424104:L130V	ENSP00000269305:L130V	L	-	1	0	TP53	7519267	1.000000	0.71417	0.930000	0.37139	0.764000	0.43329	5.638000	0.67861	2.733000	0.93635	0.655000	0.94253	CTC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	38	0	G	NM_000546		7578542	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	57.69	11	15	SNP	0.985	C	C	7578542	G	C	7578542	3	2	170	1	0	0	0	0	1	0	0	0	16429	1000	35	5	910	5	TP53	17	7578542	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	71365	7578542	73616668	236	42907											
DNAH2	146754	genome.wustl.edu	37	chr17	7708333	7708333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatcaagtgtcaggcactgGctgacaatgcccagaaagat	15	7	10	9	0	2	3	2	1	0	2	2	3	2	3	1	2	1	2	1	2	4	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:7708333G>A	ENST00000572933.1	+	60	10701	c.9241G>A	c.(9241-9243)Gct>Act	p.A3081T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A3081T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3081	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAGGCACTGGCTGACAATGC	0.542																																																	0													76	81	79					17																	7708333		2203	4300	6503	SO:0001583	missense	0			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.9241G>A	17.37:g.7708333G>A	ENSP00000458355:p.Ala3081Thr		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A3081T	ENST00000572933.1	37	c.9241	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.211795	0.95069	.	.	ENSG00000183914	ENST00000389173	T	0.75260	-0.92	4.88	4.88	0.63580	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.89483	0.6728	M	0.93720	3.45	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.91636	0.5323	10	0.56958	D	0.05	.	16.9512	0.86246	0.0:0.0:1.0:0.0	.	3081	Q9P225	DYH2_HUMAN	T	3081	ENSP00000373825:A3081T	ENSP00000373825:A3081T	A	+	1	0	DNAH2	7649058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	2.541000	0.85698	0.591000	0.81541	GCT	DNAH2	-	NULL	ENSG00000183914		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1		0	50	0	G	NM_020877		7708333	1			no_errors	ENST00000389173	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	7708333	G	A	7708333	3	1	170	1	0	0	0	0	1	0	0	0	4616	1203	42	3	9475	3	DNAH2	17	7708333	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	129791	7708333	73486877	237	42908											
MYH10	4628	genome.wustl.edu	37	chr17	8445454	8445454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattaggtcgatgcatggctGcagatccagcccgaaatcga	11	9	11	10	3	0	1	0	0	0	1	3	4	1	1	2	2	3	3	2	2	3	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:8445454G>T	ENST00000269243.4	-	13	1684	c.1546C>A	c.(1546-1548)Cag>Aag	p.Q516K	MYH10_ENST00000379980.4_Missense_Mutation_p.Q532K|MYH10_ENST00000396239.1_Missense_Mutation_p.Q516K|MYH10_ENST00000360416.3_Missense_Mutation_p.Q526K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	516	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						ATGCATGGCTGCAGATCCAGC	0.493																																																	0													153	132	139					17																	8445454		2203	4300	6503	SO:0001583	missense	0			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.1546C>A	17.37:g.8445454G>T	ENSP00000269243:p.Gln516Lys		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q516K	ENST00000269243.4	37	c.1546	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975899	0.74360	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.96	4.96	0.65561	Myosin head, motor domain (3);	0.055383	0.85682	D	0.000000	D	0.90092	0.6905	M	0.75447	2.3	0.80722	D	1	P;P;P	0.38148	0.547;0.62;0.547	B;P;B	0.44772	0.274;0.46;0.274	D	0.90938	0.4795	10	0.66056	D	0.02	.	18.7716	0.91894	0.0:0.0:1.0:0.0	.	525;526;516	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	516;526;516;532	ENSP00000269243:Q516K;ENSP00000353590:Q526K;ENSP00000379539:Q516K;ENSP00000369315:Q532K	ENSP00000269243:Q516K	Q	-	1	0	MYH10	8386179	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	9.657000	0.98554	2.735000	0.93741	0.563000	0.77884	CAG	MYH10	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000133026		0.493	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	-	0	79	0	G			8445454	-1	tier1	-	no_errors	ENST00000396239	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	8445454	G	T	8445454	3	4	170	1	0	0	0	0	1	0	0	0	10068	1328	46	3	4500	3	MYH10	17	8445454	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	737121	8445454	72749756	238	42909											
ACACA	31	genome.wustl.edu	37	chr17	35487049	35487049	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	acagtgaaaaccccttcaaaGtcatcacacacagtgcagtg	15	7	7	12	0	3	1	3	1	0	0	3	1	3	1	2	0	2	1	2	0	3	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:35487049G>T	ENST00000394406.2	-	46	5854	c.5664C>A	c.(5662-5664)gaC>gaA	p.D1888E	ACACA_ENST00000353139.5_Missense_Mutation_p.D1925E|ACACA_ENST00000360679.3_Missense_Mutation_p.D1830E|ACACA_ENST00000335166.5_Missense_Mutation_p.D1810E|ACACA_ENST00000361253.5_Missense_Mutation_p.D14E	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1888	Carboxyltransferase.			D -> G (in Ref. 1; AAC50139). {ECO:0000305}.	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)	CCCCTTCAAAGTCATCACACA	0.547																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													194	165	175					17																	35487049		2203	4300	6503	SO:0001583	missense	0			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.5664C>A	17.37:g.35487049G>T	ENSP00000377928:p.Asp1888Glu		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.D1925E	ENST00000394406.2	37	c.5775	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293754	0.80914	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59;-4.59	5.83	5.83	0.93111	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	M	0.71920	2.185	0.80722	D	1	D;D;D;D	0.76494	0.991;0.999;0.968;0.96	P;D;P;P	0.83275	0.86;0.996;0.781;0.673	D	0.97878	1.0290	10	0.52906	T	0.07	-21.0497	11.4618	0.50215	0.139:0.0:0.861:0.0	.	587;1925;1888;1830	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	E	1925;1830;1888;1912;1810;587;14	ENSP00000344789:D1925E;ENSP00000353898:D1830E;ENSP00000377928:D1888E;ENSP00000335323:D1810E;ENSP00000354565:D14E	ENSP00000335323:D1810E	D	-	3	2	ACACA	32561162	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.778000	0.47726	2.762000	0.94881	0.655000	0.94253	GAC	ACACA	-	pfam_Carboxyl_trans,pfscan_COA_CT_C	ENSG00000132142		0.547	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1		0	84	0	G	NM_198836		35487049	-1			no_errors	ENST00000353139	ensembl	human	known	74_37	missense	5.63	66	4	SNP	1.000	T	T	35487049	G	T	35487049	3	4	170	1	0	0	0	0	1	0	0	0	106	1020	36	3	1420	3	ACACA	17	35487049	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	27041595	35487049	45708161	239	42910											
ZPBP2	124626	genome.wustl.edu	37	chr17	38027810	38027810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacacatgtactctttcttAtaagactgttaaagcagaaa	15	14	5	7	0	2	2	0	0	2	2	2	2	2	2	0	0	3	3	0	0	7	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:38027810A>G	ENST00000348931.4	+	4	529	c.338A>G	c.(337-339)tAt>tGt	p.Y113C	ZPBP2_ENST00000584588.1_Missense_Mutation_p.Y113C|ZPBP2_ENST00000377940.3_Missense_Mutation_p.Y91C	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	113					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACTCTTTCTTATAAGACTGTT	0.308																																																	0													78	82	81					17																	38027810		2203	4296	6499	SO:0001583	missense	0			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.338A>G	17.37:g.38027810A>G	ENSP00000335384:p.Tyr113Cys		A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	pfam_Sp38-bd,pfscan_Ig-like_dom	p.Y113C	ENST00000348931.4	37	c.338	CCDS11352.1	17	.	.	.	.	.	.	.	.	.	.	A	15.66	2.900513	0.52227	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.60171	0.21;0.21	5.36	5.36	0.76844	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106305	0.42294	D	0.000736	T	0.75759	0.3893	M	0.77313	2.365	0.36899	D	0.890293	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82692	-0.0331	10	0.87932	D	0	-24.5167	13.5982	0.62002	1.0:0.0:0.0:0.0	.	91;113	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	C	113;91	ENSP00000335384:Y113C;ENSP00000367174:Y91C	ENSP00000335384:Y113C	Y	+	2	0	ZPBP2	35281336	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	2.861000	0.48380	2.027000	0.59764	0.377000	0.23210	TAT	ZPBP2	-	pfam_Sp38-bd,pfscan_Ig-like_dom	ENSG00000186075		0.308	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP2	HGNC	protein_coding	OTTHUMT00000256609.2	-	0	70	0	A	NM_198844		38027810	1	tier1	-	no_errors	ENST00000348931	ensembl	human	known	74_37	missense	18.87	43	10	SNP	1.000	G	G	38027810	A	G	38027810	3	3	170	1	0	0	0	0	1	0	0	0	18268	449	16	4	352	4	ZPBP2	17	38027810	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	2540761	38027810	43167400	240	42911											
MED24	9862	genome.wustl.edu	37	chr17	38178915	38178915	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttggcaagagcagtgccCggggggtccatgaggctgtg	7	8	17	9	1	0	2	0	1	0	1	1	2	1	2	2	5	3	3	2	5	2	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:38178915C>T	ENST00000394128.2	-	21	2496	c.2415G>A	c.(2413-2415)ccG>ccA	p.P805P	MED24_ENST00000501516.3_Silent_p.P824P|MED24_ENST00000356271.3_Silent_p.P792P|MED24_ENST00000394127.2_Silent_p.P792P|MED24_ENST00000394126.1_Silent_p.P830P	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	805					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)					GAGCAGTGCCCGGGGGGTCCA	0.637																																																	0													49	50	49					17																	38178915		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2415G>A	17.37:g.38178915C>T			A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	pfam_Mediator_Med24_N	p.P805	ENST00000394128.2	37	c.2415	CCDS11359.1	17	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.026802	0.02045	.	.	ENSG00000008838	ENST00000422942	.	.	.	5.39	-9.04	0.00734	.	.	.	.	.	T	0.31796	0.0808	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42548	-0.9445	4	.	.	.	-13.326	0.6774	0.00869	0.2578:0.2986:0.1641:0.2794	.	.	.	.	R	60	.	.	G	-	1	0	MED24	35432441	0.000000	0.05858	0.858000	0.33744	0.132000	0.20833	-2.573000	0.00912	-1.312000	0.02306	-2.610000	0.00160	GGG	MED24	-	pfam_Mediator_Med24_N	ENSG00000008838		0.637	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	-	0	23	0	C	NM_014815		38178915	-1	tier1	-	no_errors	ENST00000394128	ensembl	human	known	74_37	silent	28.12	23	9	SNP	0.012	T	T	38178915	C	T	38178915	2	4	170	1	0	0	0	0	0	0	0	1	9480	639	23	1		1	MED24	17	38178915	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	151105	38178915	43016295	241	42912											
KRT12	3859	genome.wustl.edu	37	chr17	39023236	39023236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccggagccacccccaaagCcggaactagaaccaaacatg	14	4	8	15	2	0	1	0	0	0	1	1	3	1	3	6	2	5	0	6	2	5	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:39023236C>T	ENST00000251643.4	-	1	226	c.203G>A	c.(202-204)gGc>gAc	p.G68D		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	68	Gly-rich.|Head.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	ACCCCCAAAGCCGGAACTAGA	0.577																																																	0													83	94	90					17																	39023236		2203	4300	6503	SO:0001583	missense	0				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.203G>A	17.37:g.39023236C>T	ENSP00000251643:p.Gly68Asp		B2R9E0	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.G68D	ENST00000251643.4	37	c.203	CCDS11378.1	17	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009087	0.54361	.	.	ENSG00000187242	ENST00000251643	D	0.89123	-2.47	5.91	2.74	0.32292	.	0.259474	0.27613	N	0.018581	D	0.88551	0.6467	L	0.47190	1.495	0.35215	D	0.775488	D	0.56746	0.977	P	0.53450	0.726	D	0.88459	0.3054	10	0.36615	T	0.2	.	11.7458	0.51819	0.2499:0.6299:0.1202:0.0	.	68	Q99456	K1C12_HUMAN	D	68	ENSP00000251643:G68D	ENSP00000251643:G68D	G	-	2	0	KRT12	36276762	0.930000	0.31532	0.997000	0.53966	0.895000	0.52256	1.251000	0.32862	0.355000	0.24131	0.655000	0.94253	GGC	KRT12	-	NULL	ENSG00000187242		0.577	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT12	HGNC	protein_coding	OTTHUMT00000257214.2	-	0	72	0	C	NM_000223		39023236	-1	tier1	-	no_errors	ENST00000251643	ensembl	human	known	74_37	missense	28.07	41	16	SNP	0.999	T	T	39023236	C	T	39023236	3	4	170	1	0	0	0	0	1	0	0	0	8476	739	26	3	1313	3	KRT12	17	39023236	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	844321	39023236	42171974	242	42913											
PTRF	284119	genome.wustl.edu	37	chr17	40557038	40557038	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccgctcggcgggcaccagGcgcgtgcccagcttgttcat	4	7	14	16	6	1	0	1	0	0	0	2	0	1	0	3	3	2	4	3	3	0	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:40557038G>A	ENST00000357037.5	-	2	1259	c.840C>T	c.(838-840)cgC>cgT	p.R280R		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGGGCACCAGGCGCGTGCCCA	0.637																																																	0													97	86	89					17																	40557038		2203	4300	6503	SO:0001819	synonymous_variant	0			AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.840C>T	17.37:g.40557038G>A				Silent	SNP	NULL	p.R280	ENST00000357037.5	37	c.840	CCDS11425.1	17																																																																																			PTRF	-	NULL	ENSG00000177469		0.637	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRF	HGNC	protein_coding	OTTHUMT00000449938.1	-	0	45	0	G	NM_012232		40557038	-1	tier1	-	no_errors	ENST00000357037	ensembl	human	known	74_37	silent	22.22	42	12	SNP	1.000	A	A	40557038	G	A	40557038	2	1	170	1	0	0	0	0	0	0	0	1	12860	1190	42	3		3	PTRF	17	40557038	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1533802	40557038	40638172	243	42914											
DHX8	1659	genome.wustl.edu	37	chr17	41598221	41598221	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccattgtatccatgctgtctGtgcagaacgtcttctatagg	8	14	9	10	1	3	1	0	0	3	1	4	1	4	1	2	1	3	3	2	1	4	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:41598221G>T	ENST00000262415.3	+	20	3112	c.3040G>T	c.(3040-3042)Gtg>Ttg	p.V1014L	DHX8_ENST00000540306.1_Missense_Mutation_p.V1014L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1014					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)		CATGCTGTCTGTGCAGAACGT	0.502											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													145	122	130					17																	41598221		2203	4300	6503	SO:0001583	missense	0			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.3040G>T	17.37:g.41598221G>T	ENSP00000262415:p.Val1014Leu	902		Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1014L	ENST00000262415.3	37	c.3040	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326418	0.81690	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.06933	3.24;3.24	5.78	5.78	0.91487	Helicase-associated domain (2);	0.000000	0.64402	D	0.000001	T	0.18215	0.0437	L	0.58101	1.795	0.80722	D	1	P;B	0.47350	0.894;0.431	P;B	0.48488	0.579;0.386	T	0.00043	-1.2225	10	0.54805	T	0.06	.	18.9999	0.92829	0.0:0.0:1.0:0.0	.	1014;1014	F5H658;Q14562	.;DHX8_HUMAN	L	1014	ENSP00000437886:V1014L;ENSP00000262415:V1014L	ENSP00000262415:V1014L	V	+	1	0	DHX8	38953747	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.662000	0.98603	2.742000	0.94016	0.650000	0.86243	GTG	DHX8	-	pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom	ENSG00000067596		0.502	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	-	0	65	0	G			41598221	1	tier1	-	no_errors	ENST00000262415	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	T	T	41598221	G	T	41598221	3	4	170	1	0	0	0	0	1	0	0	0	4529	1377	48	3	3118	3	DHX8	17	41598221	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1041183	41598221	39596989	244	42915											
CDC27	996	genome.wustl.edu	37	chr17	45199823	45199823	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttactgatctgttcttcTtgggttattggctcctcatc	5	19	7	10	0	4	1	1	1	3	0	6	1	5	1	1	2	2	3	1	2	3	7			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:45199823T>C	ENST00000066544.3	-	18	2472	c.2379A>G	c.(2377-2379)caA>caG	p.Q793Q	CDC27_ENST00000531206.1_Silent_p.Q799Q|CDC27_ENST00000527547.1_Silent_p.Q792Q|CDC27_ENST00000446365.2_Silent_p.Q732Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	793					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						TCTGTTCTTCTTGGGTTATTG	0.338																																																	0													162	149	154					17																	45199823		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2379A>G	17.37:g.45199823T>C			G3V1C4|Q16349|Q96F35	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q799	ENST00000066544.3	37	c.2397	CCDS11509.1	17																																																																																			CDC27	-	NULL	ENSG00000004897		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	-	0	38	0	T			45199823	-1	tier1	-	no_errors	ENST00000531206	ensembl	human	known	74_37	silent	20.75	42	11	SNP	1.000	C	C	45199823	T	C	45199823	2	2	170	1	0	0	0	0	0	0	0	1	3073	1606	56	4		4	CDC27	17	45199823	Silent	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	3601602	45199823	35995387	245	42916											
HOXB3	3213	genome.wustl.edu	37	chr17	46627744	46627744	+	Silent	SNP	A	A	G	1	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	tggattctaccctgaggaggAggcgcgtggtgagaggagag	9	7	19	6	2	1	3	0	2	1	2	1	8	1	6	1	6	1	0	1	6	1	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:46627744A>G	ENST00000470495.1	-	2	2695	c.1248T>C	c.(1246-1248)ccT>ccC	p.P416P	HOXB3_ENST00000485909.2_Silent_p.P284P|HOXB3_ENST00000490677.1_Silent_p.P282P|HOXB3_ENST00000498678.1_Silent_p.P416P|HOXB3_ENST00000460160.1_Silent_p.P284P|HOXB3_ENST00000489475.1_Silent_p.P343P|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Silent_p.P343P|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000476342.1_Silent_p.P416P|HOXB3_ENST00000311626.4_Silent_p.P416P			P14651	HXB3_HUMAN	homeobox B3	416					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCTGAGGAGGAGGCGCGTGGT	0.612											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													80	91	87					17																	46627744		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.1248T>C	17.37:g.46627744A>G		940	A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P416	ENST00000470495.1	37	c.1248	CCDS11528.1	17																																																																																			HOXB3	-	NULL	ENSG00000120093		0.612	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB3	HGNC	protein_coding	OTTHUMT00000358261.1	-	0	29	0	A			46627744	-1	tier1	-	no_errors	ENST00000311626	ensembl	human	known	74_37	silent	16.67	50	10	SNP	0.822	G	G	46627744	A	G	46627744	2	3	170	1	0	0	0	0	0	0	0	1	7329	291	11	4		4	HOXB3	17	46627744	Silent	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	1427921	46627744	34567466	246	42917											
LPO	4025	genome.wustl.edu	37	chr17	56324982	56324982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagactgaggcagaaggcatCcttgaccaatgtcacaggta	13	7	12	9	0	1	4	1	2	0	2	2	5	2	4	2	3	0	3	2	3	3	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:56324982C>T	ENST00000262290.4	+	4	624	c.308C>T	c.(307-309)tCc>tTc	p.S103F	LPO_ENST00000582328.1_Intron|LPO_ENST00000543544.1_Missense_Mutation_p.S44F|LPO_ENST00000421678.2_Intron	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	103					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.S103C(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						CAGAAGGCATCCTTGACCAAT	0.557																																																	1	Substitution - Missense(1)	cervix(1)											90	84	86					17																	56324982		2203	4300	6503	SO:0001583	missense	0			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.308C>T	17.37:g.56324982C>T	ENSP00000262290:p.Ser103Phe		A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.S103F	ENST00000262290.4	37	c.308	CCDS32689.1	17	.	.	.	.	.	.	.	.	.	.	C	8.410	0.843978	0.16963	.	.	ENSG00000167419	ENST00000262290;ENST00000543544	T;T	0.72051	-0.51;-0.62	5.56	3.15	0.36227	.	1.275740	0.04981	N	0.465592	T	0.51805	0.1696	N	0.08118	0	0.18873	N	0.999983	B;B	0.14805	0.011;0.002	B;B	0.22880	0.042;0.004	T	0.43718	-0.9374	10	0.46703	T	0.11	-1.3543	4.2944	0.10894	0.1679:0.6051:0.0:0.227	.	44;103	B4E1M1;P22079	.;PERL_HUMAN	F	103;44	ENSP00000262290:S103F;ENSP00000445344:S44F	ENSP00000262290:S103F	S	+	2	0	LPO	53679981	0.009000	0.17119	0.004000	0.12327	0.120000	0.20174	0.846000	0.27682	0.466000	0.27193	0.655000	0.94253	TCC	LPO	-	NULL	ENSG00000167419		0.557	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1		0	60	0	C			56324982	1			no_errors	ENST00000262290	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.006	T	T	56324982	C	T	56324982	3	4	170	1	0	0	0	0	1	0	0	0	8957	855	30	3	318	3	LPO	17	56324982	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	9697238	56324982	24870228	247	42918											
HSF5	124535	genome.wustl.edu	37	chr17	56544249	56544249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttgcaagaatcttacctgGaagtagttgcagtgtgcata	12	12	11	6	0	1	1	0	0	1	1	1	2	1	2	1	1	4	6	1	1	6	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:56544249G>T	ENST00000323777.3	-	3	1126	c.1017C>A	c.(1015-1017)ttC>ttA	p.F339L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	339					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)					ATCTTACCTGGAAGTAGTTGC	0.418																																																	0													171	139	150					17																	56544249		2203	4300	6503	SO:0001583	missense	0			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.1017C>A	17.37:g.56544249G>T	ENSP00000313243:p.Phe339Leu		Q08EH7|Q8N7V2	Missense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd	p.F339L	ENST00000323777.3	37	c.1017	CCDS32690.1	17	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686658	0.88639	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.72167	-0.63	6.08	4.11	0.48088	.	0.000000	0.64402	D	0.000001	T	0.71676	0.3368	L	0.27053	0.805	0.37691	D	0.923852	D	0.58268	0.982	D	0.67548	0.952	T	0.75852	-0.3171	10	0.56958	D	0.05	.	9.7363	0.40390	0.1582:0.0:0.8418:0.0	.	339	Q4G112	HSF5_HUMAN	L	239;339	ENSP00000313243:F339L	ENSP00000313243:F339L	F	-	3	2	HSF5	53899248	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.585000	0.46111	1.594000	0.50039	0.591000	0.81541	TTC	HSF5	-	NULL	ENSG00000176160		0.418	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF5	HGNC	protein_coding	OTTHUMT00000444719.1	-	0	66	0	G	XM_064190		56544249	-1	tier1	-	no_errors	ENST00000323777	ensembl	human	known	74_37	missense	42.31	30	22	SNP	1.000	T	T	56544249	G	T	56544249	3	4	170	1	0	0	0	0	1	0	0	0	7426	1165	41	3	789	3	HSF5	17	56544249	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	219267	56544249	24650961	248	42919											
SEPT4	5414	genome.wustl.edu	37	chr17	56604047	56604047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctggaggctctacctcaGaggaatcatagggatcaagc	11	7	14	9	0	4	1	3	0	1	1	4	4	4	4	1	5	2	2	1	5	4	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:56604047G>C	ENST00000317268.3	-	2	529	c.353C>G	c.(352-354)tCt>tGt	p.S118C	RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.S99C|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000583114.1_5'UTR|SEPT4_ENST00000580791.1_5'UTR|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000426861.1_Missense_Mutation_p.S99C|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000317256.6_Missense_Mutation_p.S99C|SEPT4_ENST00000412945.3_Missense_Mutation_p.S110C|SEPT4_ENST00000457347.2_Missense_Mutation_p.S133C|SEPT4_ENST00000580844.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	118					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)					CTCTACCTCAGAGGAATCATA	0.607																																																	0													25	29	28					17																	56604047		2202	4300	6502	SO:0001583	missense	0			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.353C>G	17.37:g.56604047G>C	ENSP00000321674:p.Ser118Cys		B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase	p.S133C	ENST00000317268.3	37	c.398	CCDS11610.1	17	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313116	0.60414	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T;T	0.66099	0.59;0.55;0.6;0.59;0.6;-0.19	5.14	5.14	0.70334	.	0.989056	0.08196	N	0.982989	T	0.61565	0.2357	L	0.27053	0.805	0.33215	D	0.553943	B;P;P;B;B	0.46220	0.377;0.874;0.837;0.143;0.088	B;P;P;B;B	0.51550	0.428;0.518;0.673;0.428;0.246	T	0.62728	-0.6793	10	0.62326	D	0.03	.	9.6893	0.40118	0.0946:0.0:0.9054:0.0	.	110;133;99;99;118	O43236-3;O43236-4;O43236-6;O43236-2;O43236	.;.;.;.;SEPT4_HUMAN	C	110;132;99;118;99;99	ENSP00000414779:S110C;ENSP00000402000:S132C;ENSP00000321071:S99C;ENSP00000321674:S118C;ENSP00000376801:S99C;ENSP00000402348:S99C	ENSP00000321071:S99C	S	-	2	0	SEPT4	53959046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.187000	0.50950	2.409000	0.81822	0.655000	0.94253	TCT	SEPT4	-	NULL	ENSG00000108387		0.607	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEPT4	HGNC	protein_coding	OTTHUMT00000445420.1	-	0	64	0	G	NM_080417		56604047	-1	tier1	-	no_errors	ENST00000457347	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	C	C	56604047	G	C	56604047	3	2	170	1	0	0	0	0	1	0	0	0	14111	942	33	5	1212	5	SEPT4	17	56604047	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	59798	56604047	24591163	249	42920											
BRIP1	83990	genome.wustl.edu	37	chr17	59878759	59878759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctatatcccaggctttgCacatcccttggaaagtctgt	8	14	7	12	0	2	0	0	0	2	0	4	1	4	1	2	2	1	2	2	2	3	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:59878759C>G	ENST00000259008.2	-	8	1262	c.995G>C	c.(994-996)tGc>tCc	p.C332S	BRIP1_ENST00000577598.1_Missense_Mutation_p.C332S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	332	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CCAGGCTTTGCACATCCCTTG	0.393			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0													171	170	170					17																	59878759		2203	4300	6503	SO:0001583	missense	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.995G>C	17.37:g.59878759C>G	ENSP00000259008:p.Cys332Ser		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.C332S	ENST00000259008.2	37	c.995	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	C	4.213	0.038345	0.08148	.	.	ENSG00000136492	ENST00000259008	T	0.68903	-0.36	5.08	-4.04	0.04010	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	1.031700	0.07561	N	0.917110	T	0.43678	0.1258	N	0.16708	0.43	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.21724	-1.0237	9	.	.	.	14.2066	7.1559	0.25637	0.0:0.2592:0.2244:0.5164	.	332	Q9BX63	FANCJ_HUMAN	S	332	ENSP00000259008:C332S	.	C	-	2	0	BRIP1	57233541	0.000000	0.05858	0.103000	0.21229	0.965000	0.64279	-1.048000	0.03517	-0.960000	0.03613	0.462000	0.41574	TGC	BRIP1	-	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000136492		0.393	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	-	0	70	0	C	NM_032043		59878759	-1	tier1	-	no_errors	ENST00000259008	ensembl	human	known	74_37	missense	17.33	62	13	SNP	0.000	G	G	59878759	C	G	59878759	3	3	170	1	0	0	0	0	1	0	0	0	1518	710	25	5	2806	5	BRIP1	17	59878759	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	3274712	59878759	21316451	250	42921											
MED13	9969	genome.wustl.edu	37	chr17	60059673	60059673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaatgcaaggtagcagtCattgcaacagtcacgctctt	11	12	8	10	1	4	0	2	0	2	0	4	0	4	0	0	1	4	5	0	1	4	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:60059673C>T	ENST00000397786.2	-	16	3767	c.3691G>A	c.(3691-3693)Gac>Aac	p.D1231N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1231					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						AGGTAGCAGTCATTGCAACAG	0.423																																																	0													141	128	132					17																	60059673		1958	4152	6110	SO:0001583	missense	0			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.3691G>A	17.37:g.60059673C>T	ENSP00000380888:p.Asp1231Asn		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.D1231N	ENST00000397786.2	37	c.3691	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707027	0.89018	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74632	-0.86	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.84995	0.5596	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.84354	0.0534	10	0.54805	T	0.06	0.0017	20.1356	0.98028	0.0:1.0:0.0:0.0	.	1231	Q9UHV7	MED13_HUMAN	N	1231;1230	ENSP00000380888:D1231N	ENSP00000262436:D1230N	D	-	1	0	MED13	57414455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.755000	0.94549	0.650000	0.86243	GAC	MED13	-	NULL	ENSG00000108510		0.423	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	-	0	59	0	C	NM_005121		60059673	-1	tier1	-	no_errors	ENST00000397786	ensembl	human	known	74_37	missense	17.07	68	14	SNP	1.000	T	T	60059673	C	T	60059673	3	4	170	1	0	0	0	0	1	0	0	0	9468	826	29	3	2893	3	MED13	17	60059673	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	180914	60059673	21135537	251	42922											
GNA13	10672	genome.wustl.edu	37	chr17	63010777	63010777	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacttgaggaaacaaggaaAagtattgatgtcacactgtc	15	10	9	7	0	2	2	2	2	0	0	3	4	2	4	0	2	1	1	0	2	5	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:63010777A>T	ENST00000439174.2	-	4	977	c.732T>A	c.(730-732)ctT>ctA	p.L244L	GNA13_ENST00000541118.1_Silent_p.L149L	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	244					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						AAACAAGGAAAAGTATTGATG	0.373																																																	0													111	101	104					17																	63010777		2203	4300	6503	SO:0001819	synonymous_variant	0			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.732T>A	17.37:g.63010777A>T			B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12	p.L244	ENST00000439174.2	37	c.732	CCDS11661.1	17																																																																																			GNA13	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000120063		0.373	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1	-	0	121	0	A	NM_006572		63010777	-1	tier1	-	no_errors	ENST00000439174	ensembl	human	known	74_37	silent	35.29	77	42	SNP	0.936	T	T	63010777	A	T	63010777	2	4	170	1	0	0	0	0	0	0	0	1	6527	1	1	5		5	GNA13	17	63010777	Silent	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	2951104	63010777	18184433	252	42923											
ST6GALNAC1	55808	genome.wustl.edu	37	chr17	74621943	74621943	+	Silent	SNP	A	A	T	1	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	gtgagcagcaggagggccccAgtggtggggcggtatatcct	7	7	18	9	1	0	1	0	1	0	0	1	2	1	2	3	6	2	3	3	6	2	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:74621943A>T	ENST00000156626.7	-	8	1762	c.1563T>A	c.(1561-1563)acT>acA	p.T521T	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	521					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GGAGGGCCCCAGTGGTGGGGC	0.582																																																	0													46	49	48					17																	74621943		2203	4300	6503	SO:0001819	synonymous_variant	0			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1563T>A	17.37:g.74621943A>T			Q6UW90|Q9NSC6	Silent	SNP	pfam_Glyco_trans_29	p.T521	ENST00000156626.7	37	c.1563	CCDS11748.1	17																																																																																			ST6GALNAC1	-	pfam_Glyco_trans_29	ENSG00000070526		0.582	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	-	0	44	0	A	NM_018414		74621943	-1	tier1	-	no_errors	ENST00000156626	ensembl	human	known	74_37	silent	7.94	58	5	SNP	0.013	T	T	74621943	A	T	74621943	2	4	170	1	0	0	0	0	0	0	0	1	15270	175	7	5		5	ST6GALNAC1	17	74621943	Silent	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	11611166	74621943	6573267	253	42924											
DYSFIP1	116729	genome.wustl.edu	37	chr17	79792473	79792473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccccgtatttgaccaGcagcttcacgcattccaggt	8	10	9	14	2	2	1	2	1	0	0	3	1	3	1	4	1	3	4	4	1	1	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr17:79792473G>T	ENST00000330261.4	-	2	326	c.247C>A	c.(247-249)Ctg>Atg	p.L83M	PPP1R27_ENST00000573182.1_5'Flank|FAM195B_ENST00000538396.1_5'Flank|FAM195B_ENST00000455127.2_5'Flank|FAM195B_ENST00000576431.1_5'Flank|FAM195B_ENST00000575061.1_5'Flank|PPP1R27_ENST00000570394.1_Missense_Mutation_p.L83M|FAM195B_ENST00000573478.1_5'Flank|FAM195B_ENST00000572645.1_5'Flank	NM_001007533.3	NP_001007534.1	Q86WC6	PPR27_HUMAN	protein phosphatase 1, regulatory subunit 27	83					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TATTTGACCAGCAGCTTCACG	0.622																																																	0													166	131	143					17																	79792473		2203	4300	6503	SO:0001583	missense	0			AF434846	CCDS32767.1	17q25.3	2013-01-10	2011-10-11	2011-10-11	ENSG00000182676	ENSG00000182676		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	16813	protein-coding gene	gene with protein product			"dysferlin-interacting protein 1 (toonin)", "dysferlin interacting protein 1 (toonin)", "dysferlin interacting protein 1"	DYSFIP1			Standard	NM_001007533		Approved	toonin	uc002kbj.1	Q86WC6		ENST00000330261.4:c.247C>A	17.37:g.79792473G>T	ENSP00000331065:p.Leu83Met			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L83M	ENST00000330261.4	37	c.247	CCDS32767.1	17	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609076	0.66558	.	.	ENSG00000182676	ENST00000330261	T	0.68624	-0.34	4.86	3.89	0.44902	.	0.000000	0.64402	D	0.000002	T	0.82098	0.4963	M	0.88979	2.995	0.40343	D	0.97905	D	0.76494	0.999	D	0.91635	0.999	D	0.83881	0.0279	10	0.87932	D	0	.	9.0293	0.36249	0.1706:0.0:0.8294:0.0	.	83	Q86WC6	PPR27_HUMAN	M	83	ENSP00000331065:L83M	ENSP00000331065:L83M	L	-	1	2	DYSFIP1	77385762	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	5.175000	0.65021	1.049000	0.40321	0.561000	0.74099	CTG	PPP1R27	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000182676		0.622	PPP1R27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R27	HGNC	protein_coding	OTTHUMT00000439692.1	-	0	57	0	G	NM_001007533		79792473	-1	tier1	-	no_errors	ENST00000330261	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	79792473	G	T	79792473	3	4	170	1	0	0	0	0	1	0	0	0	4874	962	34	3	225	3	DYSFIP1	17	79792473	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	5170530	79792473	1402737	254	42925											
EMILIN2	84034	genome.wustl.edu	37	chr18	2891505	2891505	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaaggatcaatgtgacGgagaagaacgctgaagaaca	17	5	13	6	2	1	5	1	2	0	3	1	8	1	6	0	2	3	2	0	2	6	0	rs371719195		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr18:2891505G>T	ENST00000254528.3	+	4	1539	c.1380G>T	c.(1378-1380)acG>acT	p.T460T		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	460					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCAATGTGACGGAGAAGAACG	0.448																																																	0													103	109	107					18																	2891505		2203	4300	6503	SO:0001819	synonymous_variant	0			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1380G>T	18.37:g.2891505G>T			B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.T460	ENST00000254528.3	37	c.1380	CCDS11828.1	18																																																																																			EMILIN2	-	NULL	ENSG00000132205		0.448	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2		0	30	0	G	NM_032048		2891505	1			no_errors	ENST00000254528	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.555	T	T	2891505	G	T	2891505	2	4	170	1	0	0	0	0	0	0	0	1	5110	1103	39	2		2	EMILIN2	18	2891505	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09		2891505	75185743	255	42926											
MYOM1	8736	genome.wustl.edu	37	chr18	3084019	3084019	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacttccatcatcagttccTtaaaggctgtggagagagat	12	12	9	8	0	2	2	2	0	0	2	4	4	4	2	2	2	1	2	2	2	3	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr18:3084019T>A	ENST00000356443.4	-	32	4679	c.4346A>T	c.(4345-4347)aAg>aTg	p.K1449M	MYOM1_ENST00000261606.7_Missense_Mutation_p.K1353M|MYOM1_ENST00000400569.3_Missense_Mutation_p.K1449M	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1449					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CATCAGTTCCTTAAAGGCTGT	0.388																																																	0													111	99	103					18																	3084019		1841	4089	5930	SO:0001583	missense	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4346A>T	18.37:g.3084019T>A	ENSP00000348821:p.Lys1449Met		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K1449M	ENST00000356443.4	37	c.4346	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	T	10.76	1.442025	0.25900	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.52057	0.81;0.8;0.68	6.17	5.0	0.66597	.	0.519895	0.24474	N	0.038210	T	0.49712	0.1573	L	0.46157	1.445	0.32276	N	0.568223	B;B	0.27140	0.169;0.105	B;B	0.43360	0.417;0.238	T	0.61603	-0.7029	10	0.62326	D	0.03	.	7.6561	0.28375	0.0:0.0756:0.1784:0.7459	.	1353;1449	P52179-2;P52179	.;MYOM1_HUMAN	M	1449;1449;1353	ENSP00000348821:K1449M;ENSP00000383413:K1449M;ENSP00000261606:K1353M	ENSP00000261606:K1353M	K	-	2	0	MYOM1	3074019	1.000000	0.71417	0.994000	0.49952	0.788000	0.44548	2.103000	0.41806	2.371000	0.80710	0.533000	0.62120	AAG	MYOM1	-	NULL	ENSG00000101605		0.388	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	-	0	48	0	T	NM_003803		3084019	-1	tier1	-	no_errors	ENST00000356443	ensembl	human	known	74_37	missense	36.11	46	26	SNP	0.999	A	A	3084019	T	A	3084019	3	1	170	1	0	0	0	0	1	0	0	0	10129	1609	56	5	739	5	MYOM1	18	3084019	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	192514	3084019	74993229	256	42927											
SPIRE1	56907	genome.wustl.edu	37	chr18	12479718	12479718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagactcagagctgtccaGttcggccagagttggggctc	7	9	13	12	1	2	3	2	0	0	3	5	3	3	3	2	3	1	4	2	3	0	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr18:12479718G>T	ENST00000409402.4	-	10	1651	c.1384C>A	c.(1384-1386)Ctg>Atg	p.L462M	SPIRE1_ENST00000383356.2_Missense_Mutation_p.L289M|SPIRE1_ENST00000309836.5_Missense_Mutation_p.L251M|SPIRE1_ENST00000453447.2_Missense_Mutation_p.L328M|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.L448M	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GAGCTGTCCAGTTCGGCCAGA	0.517																																																	0													89	75	80					18																	12479718		2203	4300	6503	SO:0001583	missense	0			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"spire homolog 1 (Drosophila)", "spire family actin nucleation factor 1"			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1384C>A	18.37:g.12479718G>T	ENSP00000387266:p.Leu462Met			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.L462M	ENST00000409402.4	37	c.1384	CCDS45829.1	18	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302486	0.40795	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.53206	0.65;1.41;1.21;0.64;0.63	5.45	4.57	0.56435	.	0.065370	0.64402	D	0.000006	T	0.31918	0.0812	N	0.25201	0.72	0.43787	D	0.996329	P;B;P	0.40376	0.51;0.343;0.715	B;B;B	0.42343	0.384;0.245;0.322	T	0.05084	-1.0907	10	0.09338	T	0.73	-12.097	9.9318	0.41528	0.1513:0.0:0.8487:0.0	.	448;251;462	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	M	328;462;448;251;289	ENSP00000407050:L328M;ENSP00000387266:L462M;ENSP00000387226:L448M;ENSP00000309661:L251M;ENSP00000372847:L289M	ENSP00000309661:L251M	L	-	1	2	SPIRE1	12469718	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	3.312000	0.51927	2.577000	0.86979	0.650000	0.86243	CTG	SPIRE1	-	NULL	ENSG00000134278		0.517	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	HGNC	protein_coding	OTTHUMT00000333109.2	-	0	49	0	G	XM_290818		12479718	-1	tier1	-	no_errors	ENST00000409402	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	12479718	G	T	12479718	3	4	170	1	0	0	0	0	1	0	0	0	15118	1020	36	3	918	3	SPIRE1	18	12479718	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	9395699	12479718	65597530	257	42928											
ZNF521	25925	genome.wustl.edu	37	chr18	22807224	22807224	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cctctcatgaacctgcatgtGtccgtgtaaggaactagagg	10	10	11	10	1	1	2	1	1	1	1	3	3	2	3	3	2	3	2	3	2	4	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr18:22807224G>T	ENST00000361524.3	-	4	806	c.658C>A	c.(658-660)Cac>Aac	p.H220N	ZNF521_ENST00000538137.2_Missense_Mutation_p.H220N|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	220					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)					ACCTGCATGTGTCCGTGTAAG	0.493			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													100	88	92					18																	22807224		2203	4300	6503	SO:0001583	missense	0			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.658C>A	18.37:g.22807224G>T	ENSP00000354794:p.His220Asn		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H220N	ENST00000361524.3	37	c.658	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939814	0.34189	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10005	2.92;2.92	6.08	6.08	0.98989	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	0.19127	0.0459	N	0.08118	0	0.45690	D	0.998606	D	0.71674	0.998	D	0.79784	0.993	T	0.26395	-1.0104	10	0.87932	D	0	-29.5623	20.6634	0.99662	0.0:0.0:1.0:0.0	.	220	Q96K83	ZN521_HUMAN	N	220;254;220	ENSP00000354794:H220N;ENSP00000382352:H220N	ENSP00000354794:H220N	H	-	1	0	ZNF521	21061222	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CAC	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.493	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	64	0	G	NM_015461		22807224	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	22807224	G	T	22807224	3	4	170	1	0	0	0	0	1	0	0	0	18013	1377	48	3	3297	3	ZNF521	18	22807224	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	10327506	22807224	55270024	258	42929											
PIGN	23556	genome.wustl.edu	37	chr18	59780447	59780447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ggcataagatatccatcccaCaaaaccaataacaacattga	19	7	4	11	0	0	2	0	1	0	1	2	2	2	2	3	1	3	1	3	1	7	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr18:59780447C>A	ENST00000357637.5	-	16	1769	c.1354G>T	c.(1354-1356)Gtg>Ttg	p.V452L	PIGN_ENST00000400334.3_Missense_Mutation_p.V452L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	452					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)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ATCCATCCCACAAAACCAATA	0.368																																																	0													114	104	107					18																	59780447		1861	4101	5962	SO:0001583	missense	0			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.1354G>T	18.37:g.59780447C>A	ENSP00000350263:p.Val452Leu		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.V452L	ENST00000357637.5	37	c.1354	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	C	4.159	0.027976	0.08054	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.49720	0.77;0.77	5.29	4.41	0.53225	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.142736	0.46442	D	0.000296	T	0.31827	0.0809	L	0.38175	1.15	0.45946	D	0.998771	B;B	0.23735	0.019;0.09	B;B	0.30943	0.091;0.122	T	0.11616	-1.0580	10	0.02654	T	1	-9.9384	7.3945	0.26929	0.1459:0.7184:0.0:0.1358	.	452;452	B2RCI8;O95427	.;PIGN_HUMAN	L	452	ENSP00000350263:V452L;ENSP00000383188:V452L	ENSP00000350263:V452L	V	-	1	0	PIGN	57931427	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.021000	0.30040	2.633000	0.89246	0.448000	0.29417	GTG	PIGN	-	pfam_GPI_EtnP_transferase_1_C	ENSG00000197563		0.368	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2	-	0	70	0	C	NM_176787		59780447	-1	tier1	-	no_errors	ENST00000357637	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	A	A	59780447	C	A	59780447	3	1	170	1	0	0	0	0	1	0	0	0	11932	478	17	3	1505	3	PIGN	18	59780447	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	36973223	59780447	18296801	259	42930											
SERPINB12	89777	genome.wustl.edu	37	chr18	61231270	61231270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgagactgtgctggtactgGtgaatgctgtttacttcaag	8	14	12	7	0	1	2	1	2	0	1	1	3	1	2	0	2	4	4	0	2	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr18:61231270G>T	ENST00000269491.1	+	5	562	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L	SERPINB12_ENST00000382768.1_Missense_Mutation_p.V208L	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	188					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						GCTGGTACTGGTGAATGCTGT	0.408																																																	0													226	193	204					18																	61231270		2203	4300	6503	SO:0001583	missense	0			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.562G>T	18.37:g.61231270G>T	ENSP00000269491:p.Val188Leu		Q3SYB4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.V188L	ENST00000269491.1	37	c.562	CCDS11984.1	18	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327423	0.81690	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.86956	-2.19;-2.19	5.57	5.57	0.84162	Serpin domain (3);	0.000000	0.64402	D	0.000015	D	0.93009	0.7775	M	0.67953	2.075	0.50632	D	0.999886	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.93188	0.6580	10	0.87932	D	0	.	18.8998	0.92437	0.0:0.0:1.0:0.0	.	208;188	Q3SYB4;Q96P63	.;SPB12_HUMAN	L	188;208	ENSP00000269491:V188L;ENSP00000372218:V208L	ENSP00000269491:V188L	V	+	1	0	SERPINB12	59382250	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	7.902000	0.87389	2.791000	0.96007	0.655000	0.94253	GTG	SERPINB12	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000166634		0.408	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB12	HGNC	protein_coding	OTTHUMT00000256197.1	-	0	71	0	G	NM_080474		61231270	1	tier1	-	no_errors	ENST00000269491	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	61231270	G	T	61231270	3	4	170	1	0	0	0	0	1	0	0	0	14144	1261	44	3	580	3	SERPINB12	18	61231270	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1450823	61231270	16845978	260	42931											
CDH19	28513	genome.wustl.edu	37	chr18	64176315	64176315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gcacaagctcctggtactggCaggtctgtgtgctcccactg	6	10	12	13	0	1	0	0	0	1	0	3	0	3	0	2	3	3	5	2	3	2	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr18:64176315C>A	ENST00000262150.2	-	11	2037	c.1745G>T	c.(1744-1746)tGc>tTc	p.C582F	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	1652	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTGGTACTGGCAGGTCTGTGT	0.443																																																	0													150	131	137					18																	64176315		2203	4300	6503	SO:0001583	missense	0			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1745G>T	18.37:g.64176315C>A	ENSP00000262150:p.Cys582Phe		O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C582F	ENST00000262150.2	37	c.1745	CCDS11994.1	18	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487381	0.63962	.	.	ENSG00000071991	ENST00000262150	T	0.61859	0.07	5.06	5.06	0.68205	.	0.171042	0.52532	D	0.000061	T	0.77054	0.4074	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.80668	-0.1280	10	0.87932	D	0	.	14.4094	0.67106	0.0:0.8523:0.1477:0.0	.	582	Q9H159	CAD19_HUMAN	F	582	ENSP00000262150:C582F	ENSP00000262150:C582F	C	-	2	0	CDH19	62327295	1.000000	0.71417	0.157000	0.22605	0.012000	0.07955	5.654000	0.67974	2.513000	0.84729	0.585000	0.79938	TGC	CDH19	-	NULL	ENSG00000071991		0.443	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000256219.1	-	0	85	0	C	NM_021153		64176315	-1	tier1	-	no_errors	ENST00000262150	ensembl	human	known	74_37	missense	16.28	36	7	SNP	0.973	A	A	64176315	C	A	64176315	3	1	170	1	0	0	0	0	1	0	0	0	3111	710	25	3	581	3	CDH19	18	64176315	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	2945045	64176315	13900933	261	42932											
MIER2	54531	genome.wustl.edu	37	chr19	307381	307381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctggctggtatgaggctgGgtcggccagggctgggggcc	4	7	21	9	1	0	1	0	1	0	0	1	1	0	1	2	8	1	5	2	8	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:307381G>T	ENST00000264819.4	-	13	1364	c.1354C>A	c.(1354-1356)Cca>Aca	p.P452T	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	452					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)		TATGAGGCTGGGTCGGCCAGG	0.682																																																	0													14	16	15					19																	307381		2198	4299	6497	SO:0001583	missense	0			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.1354C>A	19.37:g.307381G>T	ENSP00000264819:p.Pro452Thr		Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.P452T	ENST00000264819.4	37	c.1354	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	G	3.897	-0.022848	0.07634	.	.	ENSG00000105556	ENST00000264819	T	0.23552	1.9	3.54	1.13	0.20643	.	0.778015	0.10871	N	0.624937	T	0.10078	0.0247	N	0.11201	0.11	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36311	-0.9753	10	0.02654	T	1	-2.8401	6.451	0.21903	0.1212:0.2724:0.6064:0.0	.	452	Q8N344	MIER2_HUMAN	T	452	ENSP00000264819:P452T	ENSP00000264819:P452T	P	-	1	0	MIER2	258381	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.038000	0.12144	0.791000	0.33826	0.563000	0.77884	CCA	MIER2	-	NULL	ENSG00000105556		0.682	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1		0	60	0	G	XM_041843		307381	-1			no_errors	ENST00000264819	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T	T	307381	G	T	307381	3	4	170	1	0	0	0	0	1	0	0	0	9619	1232	43	3	291	3	MIER2	19	307381	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09		307381	58821602	262	42933											
DOT1L	84444	genome.wustl.edu	37	chr19	2213639	2213639	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcaaaaattggatgaGgtagtggaccccagagggca	13	8	13	7	0	1	2	1	1	0	1	1	4	1	4	2	4	1	3	2	4	3	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:2213639G>T	ENST00000398665.3	+	17	1695	c.1659G>T	c.(1657-1659)gaG>gaT	p.E553D	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	553					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)		AATTGGATGAGGTAGTGGACC	0.622																																																	0													50	55	54					19																	2213639		2111	4217	6328	SO:0001630	splice_region_variant	0			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.1659+1G>T	19.37:g.2213639G>T			O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.E553D	ENST00000398665.3	37	c.1659	CCDS42460.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.25|14.25	2.478686|2.478686	0.44044|0.44044	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482|ENST00000440640	T|.	0.38240|.	1.15|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73055|0.73055	0.3538|0.3538	M|M	0.68952|0.68952	2.095|2.095	0.51482|0.51482	D|D	0.999926|0.999926	B|.	0.15930|.	0.015|.	B|.	0.15052|.	0.012|.	T|T	0.73506|0.73506	-0.3961|-0.3961	10|5	0.87932|.	D|.	0|.	-28.8887|-28.8887	16.7514|16.7514	0.85487|0.85487	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	553|.	Q8TEK3-2|.	.|.	D|I	553|340	ENSP00000381657:E553D|.	ENSP00000221482:E553D|.	E|S	+|+	3|2	2|0	DOT1L|DOT1L	2164639|2164639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.123000|0.123000	0.20343|0.20343	8.612000|8.612000	0.90909|0.90909	2.180000|2.180000	0.69256|0.69256	0.555000|0.555000	0.69702|0.69702	GAG|AGC	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.622	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	-	0	49	0	G	NM_032482	Missense_Mutation	2213639	1	tier1	-	no_errors	ENST00000398665	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	2213639	G	T	2213639	5	4	170	1	0	0	0	0	0	0	1	0	4723	1014	35	3	1725	3	DOT1L	19	2213639	Splice_Site	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1906258	2213639	56915344	263	42934											
ZNF556	80032	genome.wustl.edu	37	chr19	2877636	2877636	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acatgtaaggactcacactgGagagaaaccctacgaatgtg	15	7	10	9	1	1	1	1	0	0	1	1	5	1	3	1	2	2	1	1	2	4	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:2877636G>C	ENST00000307635.2	+	4	767	c.680G>C	c.(679-681)gGa>gCa	p.G227A	ZNF556_ENST00000586426.1_Missense_Mutation_p.G226A	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(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)		ACTCACACTGGAGAGAAACCC	0.507																																																	0													72	71	71					19																	2877636		2203	4300	6503	SO:0001583	missense	0			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.680G>C	19.37:g.2877636G>C	ENSP00000302603:p.Gly227Ala		Q96GM3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G227A	ENST00000307635.2	37	c.680	CCDS12097.1	19	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742647	0.30865	.	.	ENSG00000172000	ENST00000307635	T	0.26373	1.74	2.44	1.38	0.22167	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39358	0.1075	L	0.50847	1.595	0.26931	N	0.966459	D	0.89917	1.0	D	0.79108	0.992	T	0.13710	-1.0499	9	0.59425	D	0.04	.	6.6	0.22695	0.1575:0.0:0.8425:0.0	.	227	Q9HAH1	ZN556_HUMAN	A	227	ENSP00000302603:G227A	ENSP00000302603:G227A	G	+	2	0	ZNF556	2828636	1.000000	0.71417	0.760000	0.31359	0.218000	0.24690	4.019000	0.57181	0.235000	0.21160	0.407000	0.27541	GGA	ZNF556	-	pfscan_Znf_C2H2	ENSG00000172000		0.507	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF556	HGNC	protein_coding	OTTHUMT00000451638.2	-	0	46	0	G	NM_024967		2877636	1	tier1	-	no_errors	ENST00000307635	ensembl	human	known	74_37	missense	68.09	15	32	SNP	1.000	C	C	2877636	G	C	2877636	3	2	170	1	0	0	0	0	1	0	0	0	18035	1174	41	5	694	5	ZNF556	19	2877636	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	663997	2877636	56251347	264	42935											
GADD45GIP1	90480	genome.wustl.edu	37	chr19	13065136	13065136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaggcgcttgcgctcCttcttctctaggtcctggag	3	14	11	13	2	2	1	0	1	2	0	6	2	5	2	3	3	1	2	3	3	1	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:13065136C>T	ENST00000316939.1	-	2	578	c.555G>A	c.(553-555)aaG>aaA	p.K185K		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	185					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						GCTTGCGCTCCTTCTTCTCTA	0.637																																																	0													77	81	79					19																	13065136		2203	4300	6503	SO:0001819	synonymous_variant	0			AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"papillomavirus L2 interacting nuclear protein 1", "CKII beta binding protein 2", "CR6 interacting factor 1", "p53-responsive gene 6"	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.555G>A	19.37:g.13065136C>T			Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Silent	SNP	pfam_Damage-induce-interacting_prot	p.K185	ENST00000316939.1	37	c.555	CCDS12290.1	19																																																																																			GADD45GIP1	-	pfam_Damage-induce-interacting_prot	ENSG00000179271		0.637	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADD45GIP1	HGNC	protein_coding	OTTHUMT00000452759.2	-	0	23	0	C	NM_052850		13065136	-1	tier1	-	no_errors	ENST00000316939	ensembl	human	known	74_37	silent	36.51	40	23	SNP	1.000	T	T	13065136	C	T	13065136	2	4	170	1	0	0	0	0	0	0	0	1	6208	680	24	3		3	GADD45GIP1	19	13065136	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	10187500	13065136	46063847	265	42936											
CACNA1A	773	genome.wustl.edu	37	chr19	13470461	13470461	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttccatggttatgcactGgaaaacagtcagcactgcaa	12	9	8	12	0	1	0	1	0	0	0	2	1	2	1	2	2	4	4	2	2	4	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:13470461G>A	ENST00000360228.5	-	6	936	c.937C>T	c.(937-939)Cag>Tag	p.Q313*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q313*	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	313					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)	GTTATGCACTGGAAAACAGTC	0.532																																																	0													105	99	101					19																	13470461		2105	4239	6344	SO:0001587	stop_gained	0			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.937C>T	19.37:g.13470461G>A	ENSP00000353362:p.Gln313*		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.Q313*	ENST00000360228.5	37	c.937	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	41	9.095006	0.99064	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.0236	0.89262	0.0:0.0:1.0:0.0	.	.	.	.	X	313	.	ENSP00000317661:Q313X	Q	-	1	0	CACNA1A	13331461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.542000	0.85734	0.655000	0.94253	CAG	CACNA1A	-	pfam_Ion_trans_dom	ENSG00000141837		0.532	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	-	0	73	0	G	NM_000068		13470461	-1	tier1	-	no_errors	ENST00000360228	ensembl	human	known	74_37	nonsense	7.69	96	8	SNP	1.000	A	A	13470461	G	A	13470461	4	1	170	1	0	0	0	0	0	1	0	0	2545	1357	47	3	6865	3	CACNA1A	19	13470461	Nonsense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	405325	13470461	45658522	266	42937											
CD97	976	genome.wustl.edu	37	chr19	14515276	14515276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggagggcactgggccaccGagggctgccaggtgctgggc	5	4	21	11	1	0	0	0	0	0	0	0	2	0	1	3	7	2	3	3	7	0	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:14515276G>A	ENST00000242786.5	+	13	1611	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	CD97_ENST00000358600.3_Missense_Mutation_p.E418K|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.E462K	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	511	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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						CTGGGCCACCGAGGGCTGCCA	0.632																																																	0													67	66	66					19																	14515276		2203	4300	6503	SO:0001583	missense	0				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.1531G>A	19.37:g.14515276G>A	ENSP00000242786:p.Glu511Lys		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.E511K	ENST00000242786.5	37	c.1531	CCDS32929.1	19	.	.	.	.	.	.	.	.	.	.	G	2.094	-0.407718	0.04832	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.69561	-0.41;-0.41;-0.41	4.85	-4.41	0.03590	GPS domain (3);	.	.	.	.	T	0.37156	0.0993	N	0.17723	0.515	0.09310	N	1	P;P;B	0.44627	0.839;0.839;0.297	B;B;B	0.36567	0.228;0.228;0.078	T	0.41787	-0.9489	9	0.06625	T	0.88	.	6.8444	0.23980	0.1948:0.0:0.548:0.2571	.	418;462;511	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	K	511;462;418;461	ENSP00000242786:E511K;ENSP00000349918:E462K;ENSP00000351413:E418K	ENSP00000242786:E511K	E	+	1	0	CD97	14376276	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.275000	0.02817	-1.160000	0.02804	-0.367000	0.07326	GAG	CD97	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,prints_GPCR_2_EMR1_rcpt	ENSG00000123146		0.632	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	-	0	34	0	G	NM_078481		14515276	1	tier1	-	no_errors	ENST00000242786	ensembl	human	known	74_37	missense	45.00	22	18	SNP	0.000	A	A	14515276	G	A	14515276	3	1	170	1	0	0	0	0	1	0	0	0	3056	1059	37	1	1581	1	CD97	19	14515276	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1044815	14515276	44613707	267	42938											
F2RL3	9002	genome.wustl.edu	37	chr19	17000455	17000455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaatgacagtgacaccCtggagctcccggacagctca	10	6	11	14	1	1	2	1	2	0	0	2	4	2	4	3	2	3	2	3	2	1	0			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:17000455C>A	ENST00000248076.3	+	2	511	c.181C>A	c.(181-183)Ctg>Atg	p.L61M	F2RL3_ENST00000599210.1_Silent_p.P59P	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	61					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						CAGTGACACCCTGGAGCTCCC	0.687																																																	0													44	45	45					19																	17000455		2202	4300	6502	SO:0001583	missense	0			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.181C>A	19.37:g.17000455C>A	ENSP00000248076:p.Leu61Met		O76067|Q6DK42	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.L61M	ENST00000248076.3	37	c.181	CCDS12350.1	19	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025090	0.54683	.	.	ENSG00000127533	ENST00000248076	T	0.58797	0.31	3.7	0.221	0.15283	.	0.254138	0.25068	U	0.033391	T	0.56790	0.2009	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.43734	-0.9373	10	0.49607	T	0.09	.	5.0446	0.14477	0.0:0.476:0.3308:0.1932	.	61	Q96RI0	PAR4_HUMAN	M	61	ENSP00000248076:L61M	ENSP00000248076:L61M	L	+	1	2	F2RL3	16861455	0.003000	0.15002	0.004000	0.12327	0.233000	0.25261	0.434000	0.21494	0.193000	0.20303	0.491000	0.48974	CTG	F2RL3	-	prints_Prot_act_rcpt_4	ENSG00000127533		0.687	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL3	HGNC	protein_coding	OTTHUMT00000462875.1		0	14	0	C			17000455	1			no_errors	ENST00000248076	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.009	A	A	17000455	C	A	17000455	3	1	170	1	0	0	0	0	1	0	0	0	5362	680	24	3	187	3	F2RL3	19	17000455	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	2485179	17000455	42128528	268	42939											
SSBP4	170463	genome.wustl.edu	37	chr19	18541720	18541720	+	Missense_Mutation	SNP	A	A	G	1	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	acacaatggccgcaggctccAtggcggctggcttcttccag	7	8	12	14	2	1	0	0	0	1	0	3	0	3	0	3	5	0	4	3	5	1	2	rs151097251	byFrequency	TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:18541720A>G	ENST00000270061.7	+	5	643	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000348495.6_Missense_Mutation_p.M117V|SSBP4_ENST00000599699.2_5'Flank	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	117						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						CGCAGGCTCCATGGCGGCTGG	0.667																																																	0								A	VAL/MET,VAL/MET	0,4404		0,0,2202	30	32	31		349,349	1.7	1	19	dbSNP_134	31	3,8597	2.2+/-6.3	0,3,4297	no	missense,missense	SSBP4	NM_001009998.3,NM_032627.4	21,21	0,3,6499	GG,GA,AA		0.0349,0.0,0.0231	benign,benign	117/364,117/386	18541720	3,13001	2202	4300	6502	SO:0001583	missense	0				CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.349A>G	19.37:g.18541720A>G	ENSP00000270061:p.Met117Val		Q9BWW5	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.M117V	ENST00000270061.7	37	c.349	CCDS12378.1	19	.	.	.	.	.	.	.	.	.	.	A	0.486	-0.877463	0.02550	0.0	3.49E-4	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	2.8	1.74	0.24563	.	0.057889	0.64402	N	0.000004	T	0.28632	0.0709	N	0.19112	0.55	0.50467	D	0.999876	B;B	0.02656	0.0;0.0	B;B	0.11329	0.004;0.006	T	0.04522	-1.0945	9	0.13108	T	0.6	.	4.4854	0.11787	0.8164:0.0:0.1836:0.0	.	117;117	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	V	117	.	ENSP00000270061:M117V	M	+	1	0	SSBP4	18402720	1.000000	0.71417	0.996000	0.52242	0.386000	0.30323	3.592000	0.53993	0.291000	0.22468	0.459000	0.35465	ATG	SSBP4	-	NULL	ENSG00000130511		0.667	SSBP4-002	KNOWN	basic|CCDS	protein_coding	SSBP4	HGNC	protein_coding	OTTHUMT00000466348.3	-	0	155	0	A	NM_032627		18541720	1	tier1	rs151097251	no_errors	ENST00000270061	ensembl	human	known	74_37	missense	50.87	85	88	SNP	1.000	G	G	18541720	A	G	18541720	3	3	170	1	0	0	0	0	1	0	0	0	15229	217	8	4	367	4	SSBP4	19	18541720	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	1541265	18541720	40587263	269	42940											
ZNF570	148268	genome.wustl.edu	37	chr19	37974781	37974781	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttattattacttttcagGctgggagcctatatgtgaga	9	17	9	6	0	2	1	1	1	1	1	2	3	2	2	1	2	2	1	1	2	5	8			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:37974781G>T	ENST00000330173.1	+	5	786	c.257G>T	c.(256-258)gGc>gTc	p.G86V	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Splice_Site_p.G142V	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACTTTTCAGGCTGGGAGCCT	0.308																																																	0													64	70	68					19																	37974781		2168	4288	6456	SO:0001630	splice_region_variant	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.257-1G>T	19.37:g.37974781G>T			A1L472|B4DMP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G86V	ENST00000330173.1	37	c.257	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346194	0.24426	.	.	ENSG00000171827	ENST00000330173	T	0.04862	3.54	5.14	0.506	0.16961	.	2.800790	0.01969	N	0.043899	T	0.06645	0.0170	N	0.11023	0.085	0.80722	D	1	P	0.45396	0.857	P	0.48524	0.58	T	0.43163	-0.9408	9	.	.	.	.	7.8955	0.29704	0.4126:0.0:0.5874:0.0	.	86	Q96NI8	ZN570_HUMAN	V	86	ENSP00000331540:G86V	.	G	+	2	0	ZNF570	42666621	0.473000	0.25878	0.997000	0.53966	0.374000	0.29953	0.487000	0.22356	0.320000	0.23234	-0.262000	0.10625	GGC	ZNF570	-	NULL	ENSG00000171827		0.308	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	-	0	49	0	G	NM_144694	Missense_Mutation	37974781	1	tier1	-	no_errors	ENST00000330173	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.910	T	T	37974781	G	T	37974781	5	4	170	1	0	0	0	0	0	0	1	0	18050	1217	42	3	271	3	ZNF570	19	37974781	Splice_Site	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	19433061	37974781	21154202	270	42941											
ZNF234	10780	genome.wustl.edu	37	chr19	44661674	44661674	+	Missense_Mutation	SNP	A	A	T	1	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	tagagcagatcttaaaattcAttgtaggatccacacagggg	14	10	10	7	0	2	2	1	0	1	2	3	3	3	3	1	3	1	2	1	3	4	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:44661674A>T	ENST00000426739.2	+	6	1763	c.1505A>T	c.(1504-1506)cAt>cTt	p.H502L	ZNF234_ENST00000592437.1_Missense_Mutation_p.H502L	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	502					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)				CTTAAAATTCATTGTAGGATC	0.453																																																	0													71	76	75					19																	44661674		2121	4262	6383	SO:0001583	missense	0			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.1505A>T	19.37:g.44661674A>T	ENSP00000400878:p.His502Leu		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H502L	ENST00000426739.2	37	c.1505	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056970	0.76074	.	.	ENSG00000167380	ENST00000426739	D	0.86865	-2.18	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.96134	0.8740	H	0.99156	4.45	0.40900	D	0.984149	D	0.89917	1.0	D	0.91635	0.999	D	0.97440	1.0021	9	0.87932	D	0	.	12.5333	0.56128	1.0:0.0:0.0:0.0	.	502	Q14588	ZN234_HUMAN	L	502	ENSP00000400878:H502L	ENSP00000400878:H502L	H	+	2	0	ZNF226	49353514	0.038000	0.19896	0.053000	0.19242	0.935000	0.57460	2.654000	0.46699	1.850000	0.53721	0.482000	0.46254	CAT	ZNF234	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000263002		0.453	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	-	0	67	0	A			44661674	1	tier1	-	no_errors	ENST00000426739	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.983	T	T	44661674	A	T	44661674	3	4	170	1	0	0	0	0	1	0	0	0	17835	217	8	5	1519	5	ZNF234	19	44661674	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	6686893	44661674	14467309	271	42942											
ZNF285	26974	genome.wustl.edu	37	chr19	44890737	44890737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctatatgcactctctgatggGcaaggaggtatgaattacga	12	11	11	7	1	1	2	0	2	1	0	2	4	1	3	0	3	2	3	0	3	6	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:44890737G>A	ENST00000330997.4	-	4	1734	c.1670C>T	c.(1669-1671)gCc>gTc	p.A557V	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.A564V|ZNF285_ENST00000544719.2_Missense_Mutation_p.A557V	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	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)			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						TCTCTGATGGGCAAGGAGGTA	0.438																																																	0													141	116	124					19																	44890737		2203	4299	6502	SO:0001583	missense	0			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.1670C>T	19.37:g.44890737G>A	ENSP00000333595:p.Ala557Val		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A557V	ENST00000330997.4	37	c.1670	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555794	0.27827	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06687	3.27	3.74	-1.49	0.08718	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.13299	0.325	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.12156	0.007;0.007	T	0.45702	-0.9243	9	0.22706	T	0.39	.	4.0593	0.09831	0.2155:0.0:0.2587:0.5259	.	581;557	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	V	580;557	ENSP00000333595:A557V	ENSP00000333595:A557V	A	-	2	0	ZNF285	49582577	0.000000	0.05858	0.002000	0.10522	0.357000	0.29423	-2.384000	0.01063	0.184000	0.20083	0.454000	0.30748	GCC	ZNF285	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267508		0.438	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1		0	72	0	G	NM_152354		44890737	-1			no_errors	ENST00000330997	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.000	A	A	44890737	G	A	44890737	3	1	170	1	0	0	0	0	1	0	0	0	17870	1203	42	3	106	3	ZNF285	19	44890737	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	229063	44890737	14238246	272	42943											
FOXA3	3171	genome.wustl.edu	37	chr19	46376187	46376187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccctttctccatcaacaaCctaatgtcagaacagacacc	14	8	3	16	0	3	2	2	0	1	2	4	2	3	2	4	0	3	0	4	0	4	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:46376187C>G	ENST00000302177.2	+	2	1121	c.924C>G	c.(922-924)aaC>aaG	p.N308K		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	308					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCATCAACAACCTAATGTCAG	0.592																																																	0													66	57	60					19																	46376187		2203	4300	6503	SO:0001583	missense	0			L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"Forkhead boxes"	5023	protein-coding gene	gene with protein product		602295	"hepatocyte nuclear factor 3, gamma"	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.924C>G	19.37:g.46376187C>G	ENSP00000304004:p.Asn308Lys		A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.N308K	ENST00000302177.2	37	c.924	CCDS12677.1	19	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348779	0.61183	.	.	ENSG00000170608	ENST00000302177	T	0.51817	0.69	4.24	3.2	0.36748	Forkhead box protein, C-terminal (1);	0.061586	0.64402	D	0.000008	T	0.62490	0.2432	M	0.75615	2.305	0.42190	D	0.991728	D	0.65815	0.995	P	0.61874	0.895	T	0.66662	-0.5867	10	0.87932	D	0	.	10.2344	0.43275	0.0:0.8998:0.0:0.1002	.	308	P55318	FOXA3_HUMAN	K	308	ENSP00000304004:N308K	ENSP00000304004:N308K	N	+	3	2	FOXA3	51068027	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.183000	0.32041	1.107000	0.41642	0.579000	0.79373	AAC	FOXA3	-	pfam_Forkhead_box_C	ENSG00000170608		0.592	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA3	HGNC	protein_coding	OTTHUMT00000461682.1	-	0	100	0	C			46376187	1	tier1	-	no_errors	ENST00000302177	ensembl	human	known	74_37	missense	16.67	50	10	SNP	1.000	G	G	46376187	C	G	46376187	3	3	170	1	0	0	0	0	1	0	0	0	6013	506	18	5	930	5	FOXA3	19	46376187	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	1485450	46376187	12752796	273	42944											
IGFL3	388555	genome.wustl.edu	37	chr19	46627546	46627546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtagttccttttgaacactGgaggaggaagactgttatcc	10	13	11	7	0	0	2	0	1	0	1	2	5	2	5	2	3	1	3	2	3	4	5			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:46627546G>T	ENST00000341415.2	-	2	82	c.58C>A	c.(58-60)Cag>Aag	p.Q20K	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	20						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		TTTGAACACTGGAGGAGGAAG	0.433																																																	0													102	76	85					19																	46627546		2187	4300	6487	SO:0001583	missense	0			AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.58C>A	19.37:g.46627546G>T	ENSP00000344860:p.Gln20Lys			Missense_Mutation	SNP	NULL	p.Q20K	ENST00000341415.2	37	c.58	CCDS33058.1	19	.	.	.	.	.	.	.	.	.	.	G	1.670	-0.509212	0.04231	.	.	ENSG00000188624	ENST00000341415	T	0.21932	1.98	1.26	-0.00757	0.14008	.	.	.	.	.	T	0.13286	0.0322	L	0.40543	1.245	0.09310	N	1	P	0.42248	0.774	B	0.39299	0.296	T	0.20240	-1.0281	9	0.16896	T	0.51	2.7057	4.2124	0.10517	0.0:0.0:0.602:0.398	.	20	Q6UXB1	IGFL3_HUMAN	K	20	ENSP00000344860:Q20K	ENSP00000344860:Q20K	Q	-	1	0	IGFL3	51319386	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.567000	0.05916	0.036000	0.15547	0.411000	0.27672	CAG	IGFL3	-	NULL	ENSG00000188624		0.433	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFL3	HGNC	protein_coding	OTTHUMT00000421323.1	-	0	67	0	G	NM_207393		46627546	-1	tier1	-	no_errors	ENST00000341415	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.001	T	T	46627546	G	T	46627546	3	4	170	1	0	0	0	0	1	0	0	0	7615	1357	47	3	331	3	IGFL3	19	46627546	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	251359	46627546	12501437	274	42945											
PTPRH	5794	genome.wustl.edu	37	chr19	55716838	55716838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctgctctgccaccatCtccagtgtactcaaccccgt	7	10	6	18	1	3	0	1	0	2	0	5	0	4	0	6	0	4	2	6	0	2	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:55716838C>A	ENST00000376350.3	-	4	497	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	159	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)		CTGCCACCATCTCCAGTGTAC	0.582																																																	0													141	123	129					19																	55716838		2203	4298	6501	SO:0001583	missense	0				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.475G>T	19.37:g.55716838C>A	ENSP00000365528:p.Asp159Tyr		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.D159Y	ENST00000376350.3	37	c.475	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385150	0.42308	.	.	ENSG00000080031	ENST00000376350	T	0.58210	0.35	3.93	-2.98	0.05513	Fibronectin, type III (4);Immunoglobulin-like fold (1);	2.656150	0.02025	N	0.048131	T	0.63474	0.2514	M	0.68317	2.08	0.09310	N	1	D	0.61080	0.989	P	0.60789	0.879	T	0.55464	-0.8137	10	0.59425	D	0.04	.	3.9467	0.09352	0.1554:0.2884:0.4573:0.0989	.	159	Q9HD43	PTPRH_HUMAN	Y	159	ENSP00000365528:D159Y	ENSP00000365528:D159Y	D	-	1	0	PTPRH	60408650	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.279000	0.02807	-0.527000	0.06374	0.430000	0.28490	GAT	PTPRH	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080031		0.582	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	-	0	164	0	C			55716838	-1	tier1	-	no_errors	ENST00000376350	ensembl	human	known	74_37	missense	17.39	95	20	SNP	0.000	A	A	55716838	C	A	55716838	3	1	170	1	0	0	0	0	1	0	0	0	12848	913	32	3	2940	3	PTPRH	19	55716838	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	9089292	55716838	3412145	275	42946											
NLRP9	338321	genome.wustl.edu	37	chr19	56243981	56243981	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgggaaaatacaaatgtatAtgtccaaattccctctgcag	15	11	7	8	0	1	0	0	0	1	0	3	1	3	1	2	1	2	2	2	1	7	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:56243981A>T	ENST00000332836.2	-	2	1243	c.1216T>A	c.(1216-1218)Tat>Aat	p.Y406N		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	406	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					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)		ACAAATGTATATGTCCAAATT	0.483																																																	0													81	82	82					19																	56243981		2203	4300	6503	SO:0001583	missense	0			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.1216T>A	19.37:g.56243981A>T	ENSP00000331857:p.Tyr406Asn		B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Y406N	ENST00000332836.2	37	c.1216	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	A	0.757	-0.770508	0.02974	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.81499	-1.5	2.56	-3.59	0.04583	.	.	.	.	.	T	0.56077	0.1961	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.38436	-0.9661	9	0.25751	T	0.34	.	5.9282	0.19124	0.2297:0.5336:0.2367:0.0	.	406	Q7RTR0	NALP9_HUMAN	N	406	ENSP00000331857:Y406N	ENSP00000331857:Y406N	Y	-	1	0	NLRP9	60935793	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.718000	0.04980	-0.478000	0.06823	-1.102000	0.02115	TAT	NLRP9	-	NULL	ENSG00000185792		0.483	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	-	0	39	0	A	NM_176820		56243981	-1	tier1	-	no_errors	ENST00000332836	ensembl	human	known	74_37	missense	57.14	6	8	SNP	0.000	T	T	56243981	A	T	56243981	3	4	170	1	0	0	0	0	1	0	0	0	10523	449	16	5	1791	5	NLRP9	19	56243981	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	527143	56243981	2885002	276	42947											
NLRP13	126204	genome.wustl.edu	37	chr19	56424444	56424444	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagtgcagcatagcctGcattgccaaggtggtcttcc	7	10	11	13	0	1	0	0	0	1	0	2	0	2	0	4	2	6	3	4	2	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:56424444G>A	ENST00000342929.3	-	5	738	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	NLRP13_ENST00000588751.1_Nonsense_Mutation_p.Q247*	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	247	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		Q -> R (in dbSNP:rs303997). {ECO:0000269|PubMed:12563287}.				ATP binding (GO:0005524)	p.Q247*(1)		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)		AGCATAGCCTGCATTGCCAAG	0.507																																																	1	Substitution - Nonsense(1)	lung(1)											106	106	106					19																	56424444		2203	4300	6503	SO:0001587	stop_gained	0			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.739C>T	19.37:g.56424444G>A	ENSP00000343891:p.Gln247*		Q7RTR5	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q247*	ENST00000342929.3	37	c.739	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973132	0.53614	.	.	ENSG00000173572	ENST00000342929	.	.	.	2.81	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2555	0.20872	0.0:0.0:0.2668:0.7332	.	.	.	.	X	247	.	ENSP00000343891:Q247X	Q	-	1	0	NLRP13	61116256	0.941000	0.31946	0.004000	0.12327	0.086000	0.17979	2.706000	0.47135	0.290000	0.22444	-0.362000	0.07510	CAG	NLRP13	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000173572		0.507	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1		0	54	0	G	NM_176810		56424444	-1			no_errors	ENST00000342929	ensembl	human	known	74_37	nonsense	9.09	29	3	SNP	0.031	A	A	56424444	G	A	56424444	4	1	170	1	0	0	0	0	0	1	0	0	10514	1328	46	3	2418	3	NLRP13	19	56424444	Nonsense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	180463	56424444	2704539	277	42948											
NLRP8	126205	genome.wustl.edu	37	chr19	56467027	56467027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattttcatgtgttgagcCacgtgaatatccagcgcctg	11	12	9	9	2	1	2	1	2	0	0	2	2	2	2	3	0	2	1	3	0	4	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr19:56467027C>G	ENST00000291971.3	+	3	1674	c.1603C>G	c.(1603-1605)Cac>Gac	p.H535D	NLRP8_ENST00000590542.1_Missense_Mutation_p.H535D	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	535					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)		TGTGTTGAGCCACGTGAATAT	0.448																																																	0													123	121	122					19																	56467027		2203	4300	6503	SO:0001583	missense	0			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.1603C>G	19.37:g.56467027C>G	ENSP00000291971:p.His535Asp		Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.H535D	ENST00000291971.3	37	c.1603	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	C	3.880	-0.026090	0.07589	.	.	ENSG00000179709	ENST00000291971	D	0.85955	-2.05	2.04	0.952	0.19584	.	.	.	.	.	T	0.73590	0.3606	L	0.29908	0.895	0.09310	N	1	B;B	0.16396	0.017;0.006	B;B	0.15484	0.013;0.001	T	0.59193	-0.7500	9	0.34782	T	0.22	.	5.7796	0.18299	0.3152:0.6848:0.0:0.0	.	535;535	Q86W28-2;Q86W28	.;NALP8_HUMAN	D	535	ENSP00000291971:H535D	ENSP00000291971:H535D	H	+	1	0	NLRP8	61158839	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.240000	0.18042	0.400000	0.25396	0.514000	0.50259	CAC	NLRP8	-	NULL	ENSG00000179709		0.448	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	-	0	63	0	C	NM_176811		56467027	1	tier1	-	no_errors	ENST00000291971	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.001	G	G	56467027	C	G	56467027	3	3	170	1	0	0	0	0	1	0	0	0	10522	594	21	5	1613	5	NLRP8	19	56467027	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	42583	56467027	2661956	278	42949											
TBC1D20	128637	genome.wustl.edu	37	chr20	421022	421022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgagggcaaagatggtcCctacctcagcactagaaaca	14	6	10	11	0	1	3	1	1	0	2	2	3	2	3	2	2	4	3	2	2	4	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr20:421022C>A	ENST00000354200.4	-	6	785	c.638G>T	c.(637-639)gGg>gTg	p.G213V	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	213	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)				AAAGATGGTCCCTACCTCAGC	0.552																																																	0													99	85	90					20																	421022		2203	4300	6503	SO:0001583	missense	0			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.638G>T	20.37:g.421022C>A	ENSP00000346139:p.Gly213Val		A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.G213V	ENST00000354200.4	37	c.638	CCDS13002.1	20	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883776	0.91814	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.22539	1.95	5.95	5.95	0.96441	Rab-GAP/TBC domain (4);	0.047933	0.85682	D	0.000000	T	0.51686	0.1689	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41016	-0.9532	10	0.30854	T	0.27	-28.6619	19.3813	0.94536	0.0:1.0:0.0:0.0	.	213	Q96BZ9	TBC20_HUMAN	V	213;238	ENSP00000346139:G213V	ENSP00000246077:G238V	G	-	2	0	TBC1D20	369022	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.486000	0.81215	2.824000	0.97209	0.655000	0.94253	GGG	TBC1D20	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000125875		0.552	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D20	HGNC	protein_coding	OTTHUMT00000251397.2		0	63	0	C	NM_144628		421022	-1			no_errors	ENST00000354200	ensembl	human	known	74_37	missense	8.82	62	6	SNP	1.000	A	A	421022	C	A	421022	3	1	170	1	0	0	0	0	1	0	0	0	15656	623	22	3	585	3	TBC1D20	20	421022	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09		421022	62604498	279	42950											
MYH7B	57644	genome.wustl.edu	37	chr20	33577641	33577641	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tacgacaaccacgcggggaaGtcacccaatttccagcagcc	12	5	9	15	3	1	0	1	0	0	0	2	2	2	1	4	2	4	1	4	2	4	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr20:33577641G>T	ENST00000262873.7	+	18	1904	c.1812G>T	c.(1810-1812)aaG>aaT	p.K604N	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	562	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)			ACGCGGGGAAGTCACCCAATT	0.612																																																	0													55	61	59					20																	33577641		2199	4297	6496	SO:0001583	missense	0			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.1812G>T	20.37:g.33577641G>T	ENSP00000262873:p.Lys604Asn		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K604N	ENST00000262873.7	37	c.1812	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699363	0.68501	.	.	ENSG00000078814	ENST00000262873	T	0.71579	-0.58	4.5	-0.787	0.10943	Myosin head, motor domain (2);	0.000000	0.39615	N	0.001320	T	0.81098	0.4752	M	0.80508	2.5	0.46927	D	0.999256	D	0.76494	0.999	D	0.91635	0.999	T	0.80507	-0.1352	10	0.87932	D	0	.	10.2374	0.43290	0.4354:0.0:0.5646:0.0	.	562	A7E2Y1	MYH7B_HUMAN	N	604	ENSP00000262873:K604N	ENSP00000262873:K604N	K	+	3	2	MYH7B	33041302	0.999000	0.42202	0.995000	0.50966	0.989000	0.77384	0.462000	0.21956	0.010000	0.14839	0.561000	0.74099	AAG	MYH7B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000078814		0.612	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	-	0	87	0	G	NM_020884		33577641	1	tier1	-	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	25.61	59	21	SNP	0.997	T	T	33577641	G	T	33577641	3	4	170	1	0	0	0	0	1	0	0	0	10078	1020	36	3	1882	3	MYH7B	20	33577641	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	33156619	33577641	29447879	280	42951											
RIMS4	140730	genome.wustl.edu	37	chr20	43386383	43386383	+	Missense_Mutation	SNP	T	T	G	0	1	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	gtccacctccaactgaccgtTccgctcctgcagaccgatct	7	9	7	18	3	1	2	0	1	1	1	5	3	5	2	7	0	2	3	7	0	1	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr20:43386383T>G	ENST00000372851.3	-	4	445	c.379A>C	c.(379-381)Aac>Cac	p.N127H	RIMS4_ENST00000541604.2_Missense_Mutation_p.N128H	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	127	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)				AACTGACCGTTCCGCTCCTGC	0.577																																																	0													124	99	107					20																	43386383		2203	4300	6503	SO:0001583	missense	0				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	ENST00000372851.3:c.379A>C	20.37:g.43386383T>G	ENSP00000361942:p.Asn127His		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.N128H	ENST00000372851.3	37	c.382	CCDS13338.1	20	.	.	.	.	.	.	.	.	.	.	T	21.0	4.088333	0.76756	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.79033	-1.23;-1.23	5.91	5.91	0.95273	C2 calcium/lipid-binding domain, CaLB (1);	0.042950	0.85682	D	0.000000	T	0.78916	0.4359	L	0.55990	1.75	0.58432	D	0.999998	P;P	0.38167	0.621;0.621	B;B	0.42882	0.401;0.308	T	0.80856	-0.1195	10	0.87932	D	0	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	128;127	E1P613;Q9H426	.;RIMS4_HUMAN	H	127;128	ENSP00000361942:N127H;ENSP00000439287:N128H	ENSP00000361942:N127H	N	-	1	0	RIMS4	42819797	1.000000	0.71417	0.996000	0.52242	0.640000	0.38277	8.040000	0.89188	2.261000	0.74972	0.533000	0.62120	AAC	RIMS4	-	superfamily_C2_dom	ENSG00000101098		0.577	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RIMS4	HGNC	protein_coding	OTTHUMT00000101027.2	-	0	36	0	T	NM_182970		43386383	-1	tier1	-	no_errors	ENST00000541604	ensembl	human	known	74_37	missense	38.46	24	15	SNP	1.000	G	G	43386383	T	G	43386383	3	3	170	1	0	0	0	0	1	0	0	0	13415	1783	62	4	442	4	RIMS4	20	43386383	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	9808742	43386383	19639137	281	42952											
ACOT8	10005	genome.wustl.edu	37	chr20	44485829	44485829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagctgccggctacctGaagagatcctcgtccagcgg	8	6	14	13	3	0	2	0	1	0	1	3	4	2	3	4	3	4	3	4	3	2	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr20:44485829G>T	ENST00000217455.4	-	1	216	c.126C>A	c.(124-126)ttC>ttA	p.F42L	ZSWIM3_ENST00000255152.2_5'Flank|ZSWIM3_ENST00000454862.2_5'Flank	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	42					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CCGGCTACCTGAAGAGATCCT	0.662																																																	0													32	36	35					20																	44485829		2202	4299	6501	SO:0001583	missense	0			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"Acyl CoA thioesterases"	15919	protein-coding gene	gene with protein product	"choloyl-CoA hydrolase"	608123	"peroxisomal acyl-CoA thioesterase", "peroxisomal acyl-CoA thioesterase 1"	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.126C>A	20.37:g.44485829G>T	ENSP00000217455:p.Phe42Leu		O15261|Q17RX4	Missense_Mutation	SNP	pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio	p.F42L	ENST00000217455.4	37	c.126	CCDS13378.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.732005|5.732005	0.96856|0.96856	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000217455;ENST00000426915;ENST00000372531|ENST00000457981	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.170754|.	0.53938|.	D|.	0.000060|.	T|T	0.52869|0.52869	0.1761|0.1761	N|N	0.19112|0.19112	0.55|0.55	0.54753|0.54753	D|D	0.99998|0.99998	B;P;B|.	0.40431|.	0.0;0.717;0.376|.	B;B;B|.	0.37480|.	0.0;0.251;0.141|.	T|T	0.45293|0.45293	-0.9271|-0.9271	9|5	0.87932|.	D|.	0|.	-19.4021|-19.4021	17.5244|17.5244	0.87795|0.87795	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	42;42;42|.	E9PRD4;B4DLF4;O14734|.	.;.;ACOT8_HUMAN|.	L|K	42;40;42|3	.|.	ENSP00000217455:F42L|.	F|Q	-|-	3|1	2|0	ACOT8|ACOT8	43919236|43919236	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.232000|7.232000	0.78116|0.78116	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	TTC|CAG	ACOT8	-	tigrfam_Acyl_CoA_thio	ENSG00000101473		0.662	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT8	HGNC	protein_coding	OTTHUMT00000080338.2		0	97	0	G	NM_183386		44485829	-1			no_errors	ENST00000217455	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	44485829	G	T	44485829	3	4	170	1	0	0	0	0	1	0	0	0	156	1281	45	3	857	3	ACOT8	20	44485829	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1099446	44485829	18539691	282	42953											
TAF4	6874	genome.wustl.edu	37	chr20	60581599	60581599	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccctgcttgccgacgccGacctgcgtgggctgcgtgag	3	8	15	15	5	0	1	0	1	0	0	0	3	0	1	5	1	5	2	5	1	0	1	rs145691580		TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr20:60581599G>A	ENST00000252996.4	-	7	2189	c.2190C>T	c.(2188-2190)gtC>gtT	p.V730V		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	730					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGCCGACGCCGACCTGCGTGG	0.692																																																	0								G		0,4368		0,0,2184	16	16	16		2190	-10.9	0.4	20	dbSNP_134	16	1,8549		0,1,4274	no	coding-synonymous	TAF4	NM_003185.3		0,1,6458	AA,AG,GG		0.0117,0.0,0.0077		730/1086	60581599	1,12917	2184	4275	6459	SO:0001819	synonymous_variant	0			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2190C>T	20.37:g.60581599G>A			A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.V730	ENST00000252996.4	37	c.2190	CCDS33500.1	20																																																																																			TAF4	-	NULL	ENSG00000130699		0.692	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	-	0	61	0	G	NM_003185		60581599	-1	tier1	rs145691580	no_errors	ENST00000252996	ensembl	human	known	74_37	silent	17.59	89	19	SNP	0.049	A	A	60581599	G	A	60581599	2	1	170	1	0	0	0	0	0	0	0	1	15573	1045	37	1		1	TAF4	20	60581599	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	16095770	60581599	2443921	283	42954											
PRIC285	85441	genome.wustl.edu	37	chr20	62194076	62194076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgtgccggggtcaacattCaggccagggccgaggctgct	7	7	15	12	3	2	0	2	0	0	0	2	1	2	0	3	5	4	2	3	5	2	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr20:62194076C>T	ENST00000467148.1	-	8	6168	c.6099G>A	c.(6097-6099)ctG>ctA	p.L2033L	HELZ2_ENST00000427522.2_Silent_p.L1464L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2033					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)										GGTCAACATTCAGGCCAGGGC	0.706																																																	0													13	15	14					20																	62194076		2180	4285	6465	SO:0001819	synonymous_variant	0			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.6099G>A	20.37:g.62194076C>T			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	superfamily_P-loop_NTPase	p.L2033	ENST00000467148.1	37	c.6099	CCDS33508.1	20																																																																																			HELZ2	-	NULL	ENSG00000130589		0.706	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0	74	0	C	NM_001037335		62194076	-1	tier1	-	no_errors	ENST00000467148	ensembl	human	known	74_37	silent	33.00	67	33	SNP	0.026	T	T	62194076	C	T	62194076	2	4	170	1	0	0	0	0	0	0	0	1	12527	813	29	3		3	PRIC285	20	62194076	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	1612477	62194076	831444	284	42955											
RTEL1	51750	genome.wustl.edu	37	chr20	62292822	62292824	+	In_Frame_Del	DEL	GCT	GCT	-																															ccttgtcatcctggggcaacGctgctgctgctgctggagac																										TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr20:62292822_62292824delGCT	ENST00000360203.5	+	3	599_601	c.274_276delGCT	c.(274-276)gctdel	p.A96del	RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.A96del|RTEL1_ENST00000508582.2_In_Frame_Del_p.A96del|RTEL1_ENST00000318100.4_In_Frame_Del_p.A96del|RTEL1_ENST00000370018.3_In_Frame_Del_p.A96del|RTEL1_ENST00000488316.1_3'UTR					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)			CTGGGGCAACGCTGCTGCTGCTG	0.645																																																	0																																										SO:0001651	inframe_deletion	0			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.274_276delGCT	20.37:g.62292831_62292833delGCT	ENSP00000353332:p.Ala96del			In_Frame_Del	DEL	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A95in_frame_del	ENST00000360203.5	37	c.274_276		20																																																																																			RTEL1	-	superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3	ENSG00000258366		0.645	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1		0	20	0	GCT	NM_032957		62292824	1	tier1		no_errors	ENST00000318100	ensembl	human	known	74_37	in_frame_del	10.71	25	3	DEL	0.006:0.021:0.035	-	-	62292824	GCT	-	62292822	7	5	170	1	0	1	0	1	0	0	0	0	13765	1087	38	0	280	0	RTEL1	20	62292822	In_Frame_Del	DEL	GCT	TCGA-VR-A8EZ-01A-11D-A36J-09	98746	62292822	732698	285	42956											
DOPEY2	9980	genome.wustl.edu	37	chr21	37605164	37605164	+	Missense_Mutation	SNP	A	A	G	1	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	tgactatttgctgctgtgtgActgactgctacctccagaac	8	13	9	11	0	0	4	0	3	0	1	1	4	1	4	2	0	5	3	2	0	3	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr21:37605164A>G	ENST00000399151.3	+	15	2498	c.2413A>G	c.(2413-2415)Act>Gct	p.T805A		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	805					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGCTGTGTGACTGACTGCTA	0.507																																																	0													154	137	143					21																	37605164		2203	4300	6503	SO:0001583	missense	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2413A>G	21.37:g.37605164A>G	ENSP00000382104:p.Thr805Ala		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.T805A	ENST00000399151.3	37	c.2413	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865373	0.32977	.	.	ENSG00000142197	ENST00000399151	T	0.66638	-0.22	5.84	1.97	0.26223	.	0.524939	0.23185	N	0.050971	T	0.52451	0.1735	L	0.40543	1.245	0.09310	N	1	B;B	0.20052	0.041;0.024	B;B	0.17433	0.018;0.008	T	0.38243	-0.9670	10	0.33940	T	0.23	.	7.9377	0.29939	0.6306:0.1208:0.0:0.2486	.	805;805	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	A	805	ENSP00000382104:T805A	ENSP00000382104:T805A	T	+	1	0	DOPEY2	36527034	0.883000	0.30277	0.065000	0.19835	0.995000	0.86356	2.663000	0.46774	0.073000	0.16731	0.528000	0.53228	ACT	DOPEY2	-	NULL	ENSG00000142197		0.507	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	-	0	49	0	A	NM_005128		37605164	1	tier1	-	no_errors	ENST00000399151	ensembl	human	known	74_37	missense	65.79	13	25	SNP	0.213	G	G	37605164	A	G	37605164	3	3	170	1	0	0	0	0	1	0	0	0	4722	275	10	4	2467	4	DOPEY2	21	37605164	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09		37605164	10524731	286	42957											
BRWD1	54014	genome.wustl.edu	37	chr21	40571099	40571099	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	actctattttaagaaattttGtctttgaaggtgctggagta	11	17	9	4	0	2	2	0	1	2	1	2	3	2	3	0	2	1	2	0	2	5	7			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr21:40571099G>T	ENST00000333229.2	-	40	5570	c.5243C>A	c.(5242-5244)aCa>aAa	p.T1748K	BRWD1_ENST00000380800.3_Missense_Mutation_p.T1748K|BRWD1_ENST00000342449.3_Missense_Mutation_p.T1748K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1748					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)				AAGAAATTTTGTCTTTGAAGG	0.418																																					Melanoma(170;988 1986 4794 16843 39731)												0													75	76	76					21																	40571099		2203	4300	6503	SO:0001583	missense	0			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.5243C>A	21.37:g.40571099G>T	ENSP00000330753:p.Thr1748Lys		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.T1748K	ENST00000333229.2	37	c.5243	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696000	0.48202	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.54071	0.59;0.6;0.67	5.48	5.48	0.80851	.	0.594351	0.17016	N	0.190289	T	0.48114	0.1482	M	0.66939	2.045	0.44261	D	0.997119	P;B	0.35272	0.493;0.361	B;B	0.34242	0.178;0.036	T	0.43360	-0.9396	10	0.28530	T	0.3	-2.8119	8.4487	0.32858	0.1305:0.0:0.8695:0.0	.	1748;1748	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	1748	ENSP00000330753:T1748K;ENSP00000344333:T1748K;ENSP00000370178:T1748K	ENSP00000330753:T1748K	T	-	2	0	BRWD1	39492969	0.819000	0.29175	0.993000	0.49108	0.884000	0.51177	2.543000	0.45752	2.576000	0.86940	0.655000	0.94253	ACA	BRWD1	-	NULL	ENSG00000185658		0.418	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3		0	68	0	G	NM_033656		40571099	-1			no_errors	ENST00000333229	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.361	T	T	40571099	G	T	40571099	3	4	170	1	0	0	0	0	1	0	0	0	1529	1377	48	3	1970	3	BRWD1	21	40571099	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	2965935	40571099	7558796	287	42958											
COL18A1	80781	genome.wustl.edu	37	chr21	46914474	46914474	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggagagccgggcttcCgaggacccccggtaagtcgg	7	5	16	13	4	1	1	1	0	0	1	3	4	2	2	4	5	1	2	4	5	1	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr21:46914474C>T	ENST00000359759.4	+	26	3634	c.3613C>T	c.(3613-3615)Cga>Tga	p.R1205*	COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Nonsense_Mutation_p.R790*|COL18A1_ENST00000355480.5_Nonsense_Mutation_p.R970*			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1205	Triple-helical region 6 (COL6).				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)		GCCGGGCTTCCGAGGACCCCC	0.642																																																	0													67	77	73					21																	46914474		1934	4130	6064	SO:0001587	stop_gained	0				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.3613C>T	21.37:g.46914474C>T	ENSP00000352798:p.Arg1205*		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Nonsense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.R1205*	ENST00000359759.4	37	c.3613		21	.	.	.	.	.	.	.	.	.	.	C	41	9.103462	0.99066	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	.	.	.	3.76	1.74	0.24563	.	0.375132	0.23169	N	0.051142	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	3.9271	0.09269	0.2359:0.6372:0.0:0.127	.	.	.	.	X	790;790;970;1205;1205;137	.	ENSP00000339118:R137X	R	+	1	2	COL18A1	45738902	0.066000	0.20996	1.000000	0.80357	0.743000	0.42351	0.808000	0.27154	0.950000	0.37743	0.306000	0.20318	CGA	COL18A1	-	pfam_Collagen	ENSG00000182871		0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	-	0	63	0	C			46914474	1	tier1	-	no_errors	ENST00000359759	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	0.999	T	T	46914474	C	T	46914474	4	4	170	1	0	0	0	0	0	1	0	0	3682	644	23	1	3829	1	COL18A1	21	46914474	Nonsense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	6343375	46914474	1215421	288	42959											
MYO18B	84700	genome.wustl.edu	37	chr22	26176061	26176061	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcactgtcctccgggccTtcggctctgtgtccatggcc	2	12	10	17	2	2	0	1	0	1	0	6	0	5	0	6	3	0	1	6	3	0	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr22:26176061T>A	ENST00000407587.2	+	9	2276	c.2107T>A	c.(2107-2109)Ttc>Atc	p.F703I	MYO18B_ENST00000536101.1_Missense_Mutation_p.F703I|MYO18B_ENST00000335473.7_Missense_Mutation_p.F703I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	703	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTCCGGGCCTTCGGCTCTGT	0.627																																																	0													19	23	21					22																	26176061		2085	4196	6281	SO:0001583	missense	0			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.2107T>A	22.37:g.26176061T>A	ENSP00000386096:p.Phe703Ile		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F703I	ENST00000407587.2	37	c.2107		22	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699143	0.68501	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.84442	-1.85;-1.85;-1.85	5.38	5.38	0.77491	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.93628	0.7965	M	0.91196	3.185	0.48511	D	0.999668	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.79784	0.974;0.993;0.975;0.988	D	0.94923	0.8075	10	0.87932	D	0	.	14.5937	0.68389	0.0:0.0:0.0:1.0	.	216;703;703;703	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	703	ENSP00000441229:F703I;ENSP00000334563:F703I;ENSP00000386096:F703I	ENSP00000334563:F703I	F	+	1	0	MYO18B	24506061	1.000000	0.71417	0.973000	0.42090	0.075000	0.17131	7.134000	0.77268	2.035000	0.60131	0.533000	0.62120	TTC	MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000133454		0.627	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	91	0	T	NM_032608		26176061	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	26176061	T	A	26176061	3	1	170	1	0	0	0	0	1	0	0	0	10104	1609	56	5	2137	5	MYO18B	22	26176061	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09		26176061	25128505	289	42960											
SF3A1	10291	genome.wustl.edu	37	chr22	30741014	30741014	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagttgcgctgctctttctGcatcagctgggtcagaaact	7	13	11	10	1	4	1	2	0	2	1	4	1	4	1	0	1	5	6	0	1	2	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr22:30741014G>A	ENST00000215793.8	-	4	713	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	SF3A1_ENST00000439242.1_Nonsense_Mutation_p.Q122*	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	187					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TGCTCTTTCTGCATCAGCTGG	0.542																																																	0													150	133	139					22																	30741014		2203	4300	6503	SO:0001587	stop_gained	0			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.559C>T	22.37:g.30741014G>A	ENSP00000215793:p.Gln187*		E9PAW1	Nonsense_Mutation	SNP	pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.Q187*	ENST00000215793.8	37	c.559	CCDS13875.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.216220	0.97385	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-19.7329	19.0969	0.93255	0.0:0.0:1.0:0.0	.	.	.	.	X	122;187;84	.	ENSP00000215793:Q187X	Q	-	1	0	SF3A1	29071014	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.578000	0.82498	2.750000	0.94351	0.655000	0.94253	CAG	SF3A1	-	pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	ENSG00000099995		0.542	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	HGNC	protein_coding	OTTHUMT00000320916.2		0	88	0	G	NM_005877		30741014	-1			no_errors	ENST00000215793	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	A	A	30741014	G	A	30741014	4	1	170	1	0	0	0	0	0	1	0	0	14191	1328	46	3	1874	3	SF3A1	22	30741014	Nonsense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	4564953	30741014	20563552	290	42961											
PATZ1	23598	genome.wustl.edu	37	chr22	31740542	31740542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccacctgcttcctggtccgGctcctctttcgggggccgtc	1	11	12	17	3	1	0	0	0	1	0	6	0	4	0	6	4	1	2	6	4	0	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr22:31740542G>T	ENST00000266269.5	-	1	1676	c.1047C>A	c.(1045-1047)agC>agA	p.S349R	AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Missense_Mutation_p.S349R|PATZ1_ENST00000215919.3_Missense_Mutation_p.S349R|PATZ1_ENST00000351933.4_Missense_Mutation_p.S349R	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	349					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						TCCTGGTCCGGCTCCTCTTTC	0.597																																																	0													58	60	59					22																	31740542		2203	4300	6503	SO:0001583	missense	0			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.1047C>A	22.37:g.31740542G>T	ENSP00000266269:p.Ser349Arg		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S349R	ENST00000266269.5	37	c.1047	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241925	0.39598	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.10668	2.87;2.85;2.91;3.04	4.78	4.78	0.61160	AT hook, DNA-binding motif (1);	0.144236	0.64402	D	0.000003	T	0.06462	0.0166	N	0.08118	0	0.42061	D	0.991161	B;P;P;P	0.44627	0.058;0.557;0.839;0.557	B;B;B;B	0.36134	0.015;0.167;0.218;0.215	T	0.38672	-0.9650	10	0.59425	D	0.04	-22.3116	16.8089	0.85713	0.0:0.0:1.0:0.0	.	349;349;349;349	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	R	349	ENSP00000266269:S349R;ENSP00000384173:S349R;ENSP00000337520:S349R;ENSP00000215919:S349R	ENSP00000215919:S349R	S	-	3	2	PATZ1	30070542	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.029000	0.57253	2.211000	0.71520	0.561000	0.74099	AGC	PATZ1	-	NULL	ENSG00000100105		0.597	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	-	0	69	0	G	NM_032052		31740542	-1	tier1	-	no_errors	ENST00000266269	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T	T	31740542	G	T	31740542	3	4	170	1	0	0	0	0	1	0	0	0	11515	1194	42	3	1319	3	PATZ1	22	31740542	Missense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	999528	31740542	19564024	291	42962											
ELFN2	114794	genome.wustl.edu	37	chr22	37770857	37770857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgacacttggcctggagtaCggtgatggcgttgaggctgt	6	10	16	9	3	0	2	0	2	0	0	0	4	0	3	2	5	1	3	2	5	1	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr22:37770857C>T	ENST00000402918.2	-	3	1503	c.718G>A	c.(718-720)Gta>Ata	p.V240I	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	240	LRRCT.				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)					GCCTGGAGTACGGTGATGGCG	0.682																																																	0													35	45	41					22																	37770857		2203	4299	6502	SO:0001583	missense	0			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.718G>A	22.37:g.37770857C>T	ENSP00000385277:p.Val240Ile		Q96PY3	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor	p.V240I	ENST00000402918.2	37	c.718	CCDS33642.1	22	.	.	.	.	.	.	.	.	.	.	C	4.416	0.076909	0.08485	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.48522	0.81;0.81	4.96	3.93	0.45458	.	0.209199	0.40302	N	0.001128	T	0.18800	0.0451	N	0.01705	-0.755	0.33961	D	0.64557	B	0.09022	0.002	B	0.04013	0.001	T	0.18085	-1.0348	10	0.23891	T	0.37	-25.424	7.9926	0.30250	0.0:0.8107:0.0:0.1893	.	240	Q5R3F8	PPR29_HUMAN	I	240	ENSP00000300147:V240I;ENSP00000385277:V240I	ENSP00000300147:V240I	V	-	1	0	ELFN2	36100803	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.868000	0.56055	2.468000	0.83385	0.609000	0.83330	GTA	ELFN2	-	NULL	ENSG00000166897		0.682	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	-	0	136	0	C	NM_052906		37770857	-1	tier1	-	no_errors	ENST00000402918	ensembl	human	known	74_37	missense	45.04	71	59	SNP	1.000	T	T	37770857	C	T	37770857	3	4	170	1	0	0	0	0	1	0	0	0	5074	536	19	1	1748	1	ELFN2	22	37770857	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	6030315	37770857	13533709	292	42963											
SMCR7L	54471	genome.wustl.edu	37	chr22	39909952	39909952	+	Missense_Mutation	SNP	T	T	C	0	1	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	gtatgacaacctgtggcggcTgagcctgcgtcccgcggaga	7	7	15	12	4	0	3	0	2	0	1	1	4	1	3	3	3	3	2	3	3	2	1			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chr22:39909952T>C	ENST00000325301.2	+	6	1440	c.1016T>C	c.(1015-1017)cTg>cCg	p.L339P	MIEF1_ENST00000404569.1_Missense_Mutation_p.L339P|MIEF1_ENST00000402881.1_Missense_Mutation_p.L339P	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	339					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										CTGTGGCGGCTGAGCCTGCGT	0.602											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													60	59	59					22																	39909952		2203	4300	6503	SO:0001583	missense	0			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1016T>C	22.37:g.39909952T>C	ENSP00000327124:p.Leu339Pro	889	Q7L890|Q9BUI3	Missense_Mutation	SNP	NULL	p.L339P	ENST00000325301.2	37	c.1016	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731475	0.69189	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.12569	2.67;2.67;2.67	6.07	6.07	0.98685	.	0.120246	0.64402	D	0.000019	T	0.27798	0.0684	L	0.44542	1.39	0.80722	D	1	P;D	0.60575	0.918;0.988	P;P	0.59357	0.601;0.856	T	0.00342	-1.1803	10	0.56958	D	0.05	-14.5942	16.6288	0.85011	0.0:0.0:0.0:1.0	.	339;339	Q9NQG6;B0QY95	MID51_HUMAN;.	P	339	ENSP00000385110:L339P;ENSP00000327124:L339P;ENSP00000385191:L339P	ENSP00000327124:L339P	L	+	2	0	SMCR7L	38239898	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.013000	0.64023	2.326000	0.78906	0.533000	0.62120	CTG	MIEF1	-	NULL	ENSG00000100335		0.602	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEF1	HGNC	protein_coding	OTTHUMT00000321325.1	-	0	64	0	T	NM_019008		39909952	1	tier1	-	no_errors	ENST00000325301	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	C	C	39909952	T	C	39909952	3	2	170	1	0	0	0	0	1	0	0	0	14836	1580	55	4	1030	4	SMCR7L	22	39909952	Missense_Mutation	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	2139095	39909952	11394614	293	42964											
PRPS2	5634	genome.wustl.edu	37	chrX	12828231	12828231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgccgagtggaagaactgtAtcattgtttcacctgacgca	10	12	10	9	2	2	2	2	1	0	1	2	4	2	3	2	1	2	3	2	1	3	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chrX:12828231A>G	ENST00000380668.5	+	4	624	c.496A>G	c.(496-498)Atc>Gtc	p.I166V	PRPS2_ENST00000398491.2_Missense_Mutation_p.I169V|PRPS2_ENST00000489404.1_Missense_Mutation_p.I166V	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	166					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						GAAGAACTGTATCATTGTTTC	0.468																																																	0													114	97	103					X																	12828231		2203	4300	6503	SO:0001583	missense	0			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.496A>G	X.37:g.12828231A>G	ENSP00000370043:p.Ile166Val		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	p.I169V	ENST00000380668.5	37	c.505	CCDS14150.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.977|3.977	-0.007146|-0.007146	0.07773|0.07773	.|.	.|.	ENSG00000101911|ENSG00000101911	ENST00000380668;ENST00000398491;ENST00000489404;ENST00000461630;ENST00000460220|ENST00000380663	D;D;D;T|D	0.92647|0.94092	-2.62;-2.62;-3.08;-0.38|-3.35	4.91|4.91	4.91|4.91	0.64330|0.64330	Phosphoribosyltransferase (1);|.	0.100652|.	0.64402|.	D|.	0.000003|.	T|T	0.76579|0.76579	0.4007|0.4007	N|N	0.00205|0.00205	-1.85|-1.85	0.36239|0.36239	D|D	0.853145|0.853145	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.08055|.	0.003;0.001|.	T|T	0.81046|0.81046	-0.1110|-0.1110	10|7	0.02654|0.87932	T|D	1|0	-15.706|-15.706	9.3567|9.3567	0.38171|0.38171	0.9146:0.0:0.0854:0.0|0.9146:0.0:0.0854:0.0	.|.	166;169|.	P11908;P11908-2|.	PRPS2_HUMAN;.|.	V|C	166;169;166;79;56|145	ENSP00000370043:I166V;ENSP00000381504:I169V;ENSP00000419380:I166V;ENSP00000418911:I79V|ENSP00000370038:Y145C	ENSP00000370043:I166V|ENSP00000370038:Y145C	I|Y	+|+	1|2	0|0	PRPS2|PRPS2	12738152|12738152	1.000000|1.000000	0.71417|0.71417	0.889000|0.889000	0.34880|0.34880	0.575000|0.575000	0.36095|0.36095	7.002000|7.002000	0.76304|0.76304	1.754000|1.754000	0.51921|0.51921	0.483000|0.483000	0.47432|0.47432	ATC|TAT	PRPS2	-	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	ENSG00000101911		0.468	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	HGNC	protein_coding	OTTHUMT00000055772.2	-	0	22	0	A	NM_002765		12828231	1	tier1	-	no_errors	ENST00000398491	ensembl	human	known	74_37	missense	50.00	7	7	SNP	1.000	G	G	12828231	A	G	12828231	3	3	170	1	0	0	0	0	1	0	0	0	12622	449	16	4	519	4	PRPS2	23	12828231	Missense_Mutation	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09		12828231	142442329	294	42965											
MOSPD2	158747	genome.wustl.edu	37	chrX	14891657	14891657	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgacggtgatcatggcaGaggtgaggagcctattgcac	10	7	14	10	2	1	3	1	2	0	1	1	5	1	4	2	4	2	2	2	4	1	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chrX:14891657G>T	ENST00000380492.3	+	1	95	c.7G>T	c.(7-9)Gag>Tag	p.E3*	MOSPD2_ENST00000482354.1_Nonsense_Mutation_p.E3*|MOSPD2_ENST00000497603.2_Nonsense_Mutation_p.E3*|FANCB_ENST00000398334.1_5'Flank|FANCB_ENST00000324138.3_5'Flank	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	3						integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					GATCATGGCAGAGGTGAGGAG	0.687																																																	0													41	38	39					X																	14891657		2203	4299	6502	SO:0001587	stop_gained	0			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.7G>T	X.37:g.14891657G>T	ENSP00000369860:p.Glu3*		Q8N3H2|Q8NA83	Nonsense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom	p.E3*	ENST00000380492.3	37	c.7	CCDS14162.1	X	.	.	.	.	.	.	.	.	.	.	G	32	5.111461	0.94339	.	.	ENSG00000130150	ENST00000380492	.	.	.	5.24	3.35	0.38373	.	0.435365	0.23282	N	0.049892	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.9992	5.1777	0.15143	0.1143:0.2073:0.6784:0.0	.	.	.	.	X	3	.	ENSP00000369860:E3X	E	+	1	0	MOSPD2	14801578	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	2.182000	0.42556	2.321000	0.78463	0.544000	0.68410	GAG	MOSPD2	-	NULL	ENSG00000130150		0.687	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1	-	0	63	0	G	NM_152581		14891657	1	tier1	-	no_errors	ENST00000380492	ensembl	human	known	74_37	nonsense	62.07	11	18	SNP	1.000	T	T	14891657	G	T	14891657	4	4	170	1	0	0	0	0	0	1	0	0	9754	943	33	3	9	3	MOSPD2	23	14891657	Nonsense_Mutation	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	2063426	14891657	140378903	295	42966											
AKAP4	8852	genome.wustl.edu	37	chrX	49961618	49961618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacttcccaggtttaagttgCcttctgagctggaactagca	9	12	10	10	0	1	1	0	1	1	0	2	3	2	2	2	2	4	4	2	2	3	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chrX:49961618C>T	ENST00000376056.2	-	4	323	c.173G>A	c.(172-174)gGc>gAc	p.G58D	AKAP4_ENST00000358526.2_Missense_Mutation_p.G67D|AKAP4_ENST00000376064.3_Missense_Mutation_p.G58D|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.G58D					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)					GTTTAAGTTGCCTTCTGAGCT	0.433																																																	0													175	145	155					X																	49961618		2203	4300	6503	SO:0001583	missense	0			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.173G>A	X.37:g.49961618C>T	ENSP00000365224:p.Gly58Asp			Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.G67D	ENST00000376056.2	37	c.200	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	C	0.348	-0.946781	0.02304	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T	0.33438	2.65;1.41;2.65;2.65;1.42	4.57	2.74	0.32292	.	0.504572	0.16825	N	0.198005	T	0.19927	0.0479	L	0.36672	1.1	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.09377	0.004;0.004	T	0.22765	-1.0207	9	.	.	.	-0.9557	5.3321	0.15938	0.1987:0.6907:0.0:0.1107	.	67;58	Q5JQC9;A6ND82	AKAP4_HUMAN;.	D	58;58;67;58;58;58	ENSP00000365224:G58D;ENSP00000365226:G58D;ENSP00000351327:G67D;ENSP00000365232:G58D;ENSP00000412279:G58D	.	G	-	2	0	AKAP4	49848358	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.311000	0.19380	0.306000	0.22856	-0.305000	0.09177	GGC	AKAP4	-	smart_AKAP_110	ENSG00000147081		0.433	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	-	0	36	0	C	NM_003886		49961618	-1	tier1	-	no_errors	ENST00000358526	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.020	T	T	49961618	C	T	49961618	3	4	170	1	0	0	0	0	1	0	0	0	453	739	26	3	2376	3	AKAP4	23	49961618	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	35069961	49961618	105308942	296	42967											
UBQLN2	29978	genome.wustl.edu	37	chrX	56591114	56591114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtggctataatgctttacggCgcatgtacactgacattcaa	11	12	9	9	2	1	1	1	1	0	0	1	1	1	1	0	2	3	4	0	2	5	6			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chrX:56591114C>T	ENST00000338222.5	+	1	1089	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	270					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						TGCTTTACGGCGCATGTACAC	0.498																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0													62	60	60					X																	56591114		2203	4300	6503	SO:0001583	missense	0			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.808C>T	X.37:g.56591114C>T	ENSP00000345195:p.Arg270Cys		O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.R270C	ENST00000338222.5	37	c.808	CCDS14374.1	X	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361714	0.41801	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80994	-1.44	5.05	4.18	0.49190	.	0.000000	0.64402	D	0.000006	D	0.90195	0.6935	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.943;0.99	D	0.89685	0.3893	10	0.87932	D	0	-7.1392	5.8298	0.18574	0.1891:0.7114:0.0:0.0995	.	270;270	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	C	270	ENSP00000345195:R270C	ENSP00000345195:R270C	R	+	1	0	UBQLN2	56607839	1.000000	0.71417	0.997000	0.53966	0.818000	0.46254	3.423000	0.52756	1.254000	0.44035	-0.208000	0.12717	CGC	UBQLN2	-	NULL	ENSG00000188021		0.498	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	HGNC	protein_coding	OTTHUMT00000056891.1	-	0	28	0	C	NM_013444		56591114	1	tier1	-	no_errors	ENST00000338222	ensembl	human	known	74_37	missense	80.95	4	17	SNP	1.000	T	T	56591114	C	T	56591114	3	4	170	1	0	0	0	0	1	0	0	0	16946	768	27	1	810	1	UBQLN2	23	56591114	Missense_Mutation	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	6629496	56591114	98679446	297	42968											
RGAG4	340526	genome.wustl.edu	37	chrX	71350086	71350086	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatcctgctgtggctctccTtctggtttctggcccccatc	2	14	10	15	0	3	0	0	0	3	0	6	1	4	1	4	4	1	3	4	4	0	2			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chrX:71350086T>C	ENST00000545866.1	-	1	1672	c.1305A>G	c.(1303-1305)gaA>gaG	p.E435E	RGAG4_ENST00000609883.1_Silent_p.E435E|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	435										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GTGGCTCTCCTTCTGGTTTCT	0.522																																																	0													214	215	215					X																	71350086		2141	4230	6371	SO:0001819	synonymous_variant	0			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.1305A>G	X.37:g.71350086T>C			A7E2W7|Q8NCM4|Q9NPX1	Silent	SNP	pfam_Retrotrans_gag_dom	p.E435	ENST00000545866.1	37	c.1305	CCDS55446.1	X																																																																																			RGAG4	-	NULL	ENSG00000242732		0.522	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1	-	0	26	0	T	NM_001024455		71350086	-1	tier1	-	no_errors	ENST00000479991	ensembl	human	known	74_37	silent	90.20	5	46	SNP	0.000	C	C	71350086	T	C	71350086	2	2	170	1	0	0	0	0	0	0	0	1	13320	1606	56	4		4	RGAG4	23	71350086	Silent	SNP	T	TCGA-VR-A8EZ-01A-11D-A36J-09	14758972	71350086	83920474	298	42969											
KIAA2022	340533	genome.wustl.edu	37	chrX	73962184	73962184	+	Silent	SNP	A	A	G	1	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	attggcttgctttcttgcccAgcagctttgactttcttaga	6	17	8	10	0	2	2	0	1	2	1	2	2	2	2	1	1	4	4	1	1	1	7			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chrX:73962184A>G	ENST00000055682.6	-	3	2819	c.2208T>C	c.(2206-2208)gcT>gcC	p.A736A		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	736					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTCTTGCCCAGCAGCTTTGA	0.388																																																	0													73	72	73					X																	73962184		2203	4297	6500	SO:0001819	synonymous_variant	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2208T>C	X.37:g.73962184A>G			A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	NULL	p.A736	ENST00000055682.6	37	c.2208	CCDS35337.1	X																																																																																			KIAA2022	-	NULL	ENSG00000050030		0.388	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	-	0	61	0	A	NM_001008537		73962184	-1	tier1	-	no_errors	ENST00000055682	ensembl	human	known	74_37	silent	52.63	18	20	SNP	0.977	G	G	73962184	A	G	73962184	2	3	170	1	0	0	0	0	0	0	0	1	8296	175	7	4		4	KIAA2022	23	73962184	Silent	SNP	A	TCGA-VR-A8EZ-01A-11D-A36J-09	2612098	73962184	81308376	299	42970											
ZNF449	203523	genome.wustl.edu	37	chrX	134481196	134481196	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgaagcatttaacaaactCtgggagctttgctgtcaatg	12	12	9	8	0	2	1	1	1	1	0	2	2	2	2	0	1	5	3	0	1	4	3			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chrX:134481196C>G	ENST00000339249.4	+	2	293	c.153C>G	c.(151-153)ctC>ctG	p.L51L	ZNF449_ENST00000370760.3_Silent_p.L51L|ZNF449_ENST00000370761.3_Silent_p.L51L	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	51	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)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTAACAAACTCTGGGAGCTTT	0.473																																																	0													89	82	84					X																	134481196		2203	4300	6503	SO:0001819	synonymous_variant	0			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"-", "Zinc fingers, C2H2-type"	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.153C>G	X.37:g.134481196C>G			Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L51	ENST00000339249.4	37	c.153	CCDS14649.1	X																																																																																			ZNF449	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000173275		0.473	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF449	HGNC	protein_coding	OTTHUMT00000058411.1	-	0	19	0	C	NM_152695		134481196	1	tier1	-	no_errors	ENST00000339249	ensembl	human	known	74_37	silent	36.84	12	7	SNP	1.000	G	G	134481196	C	G	134481196	2	3	170	1	0	0	0	0	0	0	0	1	17968	900	32	5		5	ZNF449	23	134481196	Silent	SNP	C	TCGA-VR-A8EZ-01A-11D-A36J-09	60519012	134481196	20789364	300	42971											
ZNF185	7739	genome.wustl.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-																															gctctacatcaggggacaccGaggaggaggaggaggaggag																										TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					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)					AGGGGACACCgaggaggaggagg	0.596																																																	0									,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7	0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	0			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.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	smart_Znf_LIM,pfscan_Znf_LIM	p.E162in_frame_del	ENST00000370268.4	37	c.475_477	CCDS48184.1	X																																																																																			ZNF185	-	NULL	ENSG00000147394		0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1		0	37	0	GAG	NM_007150		152087572	1	tier1		no_errors	ENST00000370270	ensembl	human	known	74_37	in_frame_del	14.29	18	3	DEL	0.026:0.052:0.078	-	-	152087572	GAG	-	152087570	7	5	170	1	0	1	0	1	0	0	0	0	17800	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-VR-A8EZ-01A-11D-A36J-09	17606374	152087570	3182990	301	42972											
NAA10	8260	genome.wustl.edu	37	chrX	153197547	153197547	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagttgagggtgttggaataGaggtgcagggcggcccggtt	8	9	19	5	2	0	2	0	1	0	1	0	3	0	3	1	6	1	4	1	6	3	4			TCGA-VR-A8EZ-01A-11D-A36J-09	TCGA-VR-A8EZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9372ab61-4d63-4c11-96c2-9cdb19a67071	6a7d6675-a723-4ad5-88cb-11ede9c3b998	g.chrX:153197547G>C	ENST00000464845.1	-	6	681	c.363C>G	c.(361-363)ctC>ctG	p.L121L	NAA10_ENST00000370009.1_Intron|NAA10_ENST00000393712.3_Silent_p.L121L|NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000370015.4_Silent_p.L121L	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	121	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						TGTTGGAATAGAGGTGCAGGG	0.587																																					Ovarian(94;1099 1433 38814 45882 51063)												0													138	123	128					X																	153197547		2203	4300	6503	SO:0001819	synonymous_variant	0			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.363C>G	X.37:g.153197547G>C			A6NM98	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.L121	ENST00000464845.1	37	c.363	CCDS14737.1	X																																																																																			NAA10	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000102030		0.587	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA10	HGNC	protein_coding	OTTHUMT00000061108.2	-	0	38	0	G	NM_003491		153197547	-1	tier1	-	no_errors	ENST00000464845	ensembl	human	known	74_37	silent	49.09	28	27	SNP	1.000	C	C	153197547	G	C	153197547	2	2	170	1	0	0	0	0	0	0	0	1	10154	929	33	5		5	NAA10	23	153197547	Silent	SNP	G	TCGA-VR-A8EZ-01A-11D-A36J-09	1109977	153197547	2073013	302	42973											
UBIAD1	29914	genome.wustl.edu	37	chr1	11333870	11333870	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggctgtcctggctgtGcacggggccggtaatttggt	3	11	17	10	3	0	0	0	0	0	0	1	0	1	0	3	6	1	4	3	6	1	2	rs144106336		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:11333870G>A	ENST00000376810.5	+	1	608	c.282G>A	c.(280-282)gtG>gtA	p.V94V	UBIAD1_ENST00000376804.2_Silent_p.V94V	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	94					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)		TCCTGGCTGTGCACGGGGCCG	0.567																																																	0													115	112	113					1																	11333870		2203	4300	6503	SO:0001819	synonymous_variant	0				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.282G>A	1.37:g.11333870G>A			B3KQG3|Q53GX3|Q5THD4	Silent	SNP	pfam_UbiA_prenyltransferase	p.V94	ENST00000376810.5	37	c.282	CCDS129.1	1																																																																																			UBIAD1	-	pfam_UbiA_prenyltransferase	ENSG00000120942		0.567	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBIAD1	HGNC	protein_coding	OTTHUMT00000005773.1	-	0	74	0	G	NM_013319		11333870	1	tier1	-	no_errors	ENST00000376810	ensembl	human	known	74_37	silent	7.14	65	5	SNP	1.000	A	A	11333870	G	A	11333870	2	1	171	1	0	0	0	0	0	0	0	1	16934	1306	46	3		3	UBIAD1	1	11333870	Silent	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09		11333870	237916751	1	42974											
PRAMEF6	440561	genome.wustl.edu	37	chr1	13001384	13001384	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtaaatccagcacttgaAgtttccacctcctgtgggaa	10	11	8	12	0	0	1	0	1	0	0	3	2	3	2	5	1	1	3	5	1	4	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:13001384A>C	ENST00000376189.1	-	3	398	c.299T>G	c.(298-300)cTt>cGt	p.L100R	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.L100R	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	100					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)|kidney(1)|lung(5)|urinary_tract(2)	9	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)		CAGCACTTGAAGTTTCCACCT	0.478																																																	0													25	48	40					1																	13001384		1315	2506	3821	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"-"	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.299T>G	1.37:g.13001384A>C	ENSP00000365360:p.Leu100Arg		A0AUJ9	Missense_Mutation	SNP	NULL	p.L100R	ENST00000376189.1	37	c.299	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	10.38	1.333675	0.24167	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.04758	3.56;3.56;3.56	1.54	1.54	0.23209	.	0.000000	0.64402	D	0.000015	T	0.15955	0.0384	M	0.90425	3.115	0.18873	N	0.999987	D	0.57899	0.981	P	0.56700	0.804	T	0.03374	-1.1043	10	0.87932	D	0	.	5.2293	0.15412	1.0:0.0:0.0:0.0	.	100	Q5VXH4	PRAM6_HUMAN	R	100	ENSP00000365360:L100R;ENSP00000401281:L100R;ENSP00000347211:L100R	ENSP00000347211:L100R	L	-	2	0	PRAMEF6	12923971	0.014000	0.17966	0.005000	0.12908	0.017000	0.09413	2.014000	0.40951	0.961000	0.38030	0.329000	0.21502	CTT	PRAMEF6	-	NULL	ENSG00000232423		0.478	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding			0	214	0	A	NM_001010889		13001384	-1			no_errors	ENST00000355096	ensembl	human	known	74_37	missense	8.70	167	16	SNP	0.007	C	C	13001384	A	C	13001384	3	2	171	1	0	0	0	0	1	0	0	0	12480	72	3	4	1139	4	PRAMEF6	1	13001384	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	1667514	13001384	236249237	2	42975											
KLHDC7A	127707	genome.wustl.edu	37	chr1	18809629	18809629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacccggatgccttccagtgCgccgtggtggacaacctcat	7	9	11	14	3	1	0	1	0	0	0	2	2	2	2	5	3	4	0	5	3	2	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:18809629C>T	ENST00000400664.1	+	1	2206	c.2154C>T	c.(2152-2154)tgC>tgT	p.C718C		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	718						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)		CCTTCCAGTGCGCCGTGGTGG	0.657																																																	0													92	77	82					1																	18809629		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2154C>T	1.37:g.18809629C>T			Q8N8W6	Silent	SNP	pfam_Kelch_1,smart_Kelch_1	p.C718	ENST00000400664.1	37	c.2154	CCDS185.2	1																																																																																			KLHDC7A	-	NULL	ENSG00000179023		0.657	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	HGNC	protein_coding	OTTHUMT00000006923.3		0	45	0	C	NM_152375		18809629	1			no_errors	ENST00000400664	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.998	T	T	18809629	C	T	18809629	2	4	171	1	0	0	0	0	0	0	0	1	8387	776	27	1		1	KLHDC7A	1	18809629	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	5808245	18809629	230440992	3	42976											
ALDH4A1	8659	genome.wustl.edu	37	chr1	19203999	19203999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	cacgtagagacgcgagcacgCggaacacttctggccaccgt	10	5	12	14	6	1	1	0	0	1	1	1	4	1	2	2	2	2	2	2	2	2	2	rs142969512		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:19203999C>A	ENST00000375341.3	-	10	1305	c.1048G>T	c.(1048-1050)Gcg>Tcg	p.A350S	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.A290S|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.A350S|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.A350S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	350					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)	p.A350T(1)		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)		CGCGAGCACGCGGAACACTTC	0.647																																																	1	Substitution - Missense(1)	large_intestine(1)						C	SER/ALA,SER/ALA,SER/ALA	1,4403	2.1+/-5.4	0,1,2201	32	31	32		868,1048,1048	4.7	0.9	1	dbSNP_134	32	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense	ALDH4A1	NM_001161504.1,NM_003748.3,NM_170726.2	99,99,99	0,3,6498	AA,AC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	290/504,350/564,350/564	19203999	3,12999	2202	4299	6501	SO:0001583	missense	0			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.1048G>T	1.37:g.19203999C>A	ENSP00000364490:p.Ala350Ser		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.A350S	ENST00000375341.3	37	c.1048	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417901	0.83449	2.27E-4	2.33E-4	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	4.66	4.66	0.58398	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.115027	0.64402	D	0.000016	T	0.60741	0.2292	M	0.82823	2.61	0.80722	D	1	D	0.65815	0.995	P	0.61397	0.888	T	0.68957	-0.5272	10	0.87932	D	0	-29.8698	16.1125	0.81273	0.0:1.0:0.0:0.0	.	350	P30038	AL4A1_HUMAN	S	350;350;350;290	ENSP00000290597:A350S;ENSP00000364490:A350S;ENSP00000446071:A350S;ENSP00000442988:A290S	ENSP00000290597:A350S	A	-	1	0	ALDH4A1	19076586	1.000000	0.71417	0.883000	0.34634	0.257000	0.26127	7.225000	0.78051	2.153000	0.67306	0.561000	0.74099	GCG	ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	ENSG00000159423		0.647	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1		0	33	0	C			19203999	-1			no_errors	ENST00000290597	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.999	A	A	19203999	C	A	19203999	3	1	171	1	0	0	0	0	1	0	0	0	501	768	27	2	667	2	ALDH4A1	1	19203999	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	394370	19203999	230046622	4	42977											
IL22RA1	58985	genome.wustl.edu	37	chr1	24460793	24460793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggtggccatcgcctgcacGgattggcgtgggggtaggat	5	8	18	10	4	0	0	0	0	0	0	1	2	0	2	3	7	1	2	3	7	1	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:24460793G>A	ENST00000270800.1	-	4	477	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	147	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCGCCTGCACGGATTGGCGTG	0.532																																																	0													111	98	102					1																	24460793		2203	4300	6503	SO:0001583	missense	0			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"Interleukins and interleukin receptors"	13700	protein-coding gene	gene with protein product		605457	"interleukin 22 receptor"	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.439C>T	1.37:g.24460793G>A	ENSP00000270800:p.Arg147Cys		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R147C	ENST00000270800.1	37	c.439	CCDS247.1	1	.	.	.	.	.	.	.	.	.	.	G	3.578	-0.086198	0.07097	.	.	ENSG00000142677	ENST00000270800	T	0.47869	0.83	4.98	0.436	0.16549	Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	2.876910	0.00941	N	0.002826	T	0.31389	0.0795	N	0.14661	0.345	0.09310	N	1	D;P	0.53745	0.962;0.75	B;B	0.43838	0.433;0.206	T	0.22906	-1.0203	10	0.33940	T	0.23	-12.0866	2.8326	0.05505	0.339:0.0:0.4594:0.2016	.	39;147	B4E2V9;Q8N6P7	.;I22R1_HUMAN	C	147	ENSP00000270800:R147C	ENSP00000270800:R147C	R	-	1	0	IL22RA1	24333380	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.315000	0.19451	0.522000	0.28464	-0.258000	0.10820	CGT	IL22RA1	-	pfam_Interferon_alpha/beta_rcpt_bsu	ENSG00000142677		0.532	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL22RA1	HGNC	protein_coding	OTTHUMT00000008412.1	-	0	49	0	G			24460793	-1	tier1	-	no_errors	ENST00000270800	ensembl	human	novel	74_37	missense	36.21	37	21	SNP	0.000	A	A	24460793	G	A	24460793	3	1	171	1	0	0	0	0	1	0	0	0	7700	1116	39	1	1301	1	IL22RA1	1	24460793	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	5256794	24460793	224789828	5	42978											
WDR65	149465	genome.wustl.edu	37	chr1	43664319	43664320	+	Splice_Site	INS	-	-	A																															gttagaggatgcggagaggtINSaaaaaaaaaactgctgaaga																								rs10711519|rs557637660|rs77016489|rs200448793	byFrequency	TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:43664319_43664320insA	ENST00000372492.4	+	8	1752		c.e8+2		RNA5SP46_ENST00000362370.1_RNA|WDR65_ENST00000528956.1_Splice_Site	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN												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)				TGCGGAGAGGTAAAAAAAAAAC	0.401																																																	0																																										SO:0001630	splice_region_variant	0																														ENST00000372492.4:c.1428+2->A	1.37:g.43664329_43664329dupA			A6NKQ3|Q17RI9|Q5TAI0	Splice_Site	INS	-	e7+2	ENST00000372492.4	37	c.1428+2_1428+1		1																																																																																			WDR65	-	-	ENSG00000243710		0.401	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1		0	31	0	-		Intron	43664320	1	tier1		no_errors	ENST00000528956	ensembl	human	known	74_37	splice_site_ins	12.16	65	9	INS	1.000:0.995	A	A	43664320	-	A	43664319	8	5	171	1	0	1	1	0	0	0	1	0	17365	1652	57	0	1456	0	WDR65	1	43664319	Splice_Site	INS	-	TCGA-VR-A8Q7-01A-11D-A37C-09	19203526	43664319	205586302	6	42979											
FAM151A	338094	genome.wustl.edu	37	chr1	55075032	55075032	+	Missense_Mutation	SNP	A	A	G	1	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	tgtccacagccctagctgccAgcaatgctgtcctcacagag	9	8	9	15	0	1	1	1	0	0	1	3	1	3	1	4	0	5	3	4	0	2	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:55075032A>G	ENST00000302250.2	-	8	1827	c.1667T>C	c.(1666-1668)cTg>cCg	p.L556P	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.L369P|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	556						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						CCTAGCTGCCAGCAATGCTGT	0.622																																																	0													72	57	62					1																	55075032		2203	4300	6503	SO:0001583	missense	0			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.1667T>C	1.37:g.55075032A>G	ENSP00000306888:p.Leu556Pro		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	pfam_DUF2181	p.L556P	ENST00000302250.2	37	c.1667	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.961056	0.34565	.	.	ENSG00000162391	ENST00000302250;ENST00000294370	T	0.11277	2.79	4.28	3.13	0.36017	.	0.287311	0.23356	N	0.049064	T	0.24314	0.0589	M	0.66939	2.045	0.80722	D	1	D	0.59767	0.986	P	0.60541	0.876	T	0.00865	-1.1535	10	0.66056	D	0.02	-5.7378	9.3649	0.38219	0.8114:0.1886:0.0:0.0	.	556	Q8WW52	F151A_HUMAN	P	556;369	ENSP00000306888:L556P	ENSP00000294370:L369P	L	-	2	0	FAM151A	54847620	0.919000	0.31177	0.988000	0.46212	0.359000	0.29487	1.008000	0.29872	0.955000	0.37878	0.533000	0.62120	CTG	FAM151A	-	pfam_DUF2181	ENSG00000162391		0.622	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1		0	39	0	A	NM_176782		55075032	-1			no_errors	ENST00000302250	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.997	G	G	55075032	A	G	55075032	3	3	171	1	0	0	0	0	1	0	0	0	5477	188	7	4	94	4	FAM151A	1	55075032	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	11410713	55075032	194175589	7	42980											
ELTD1	64123	genome.wustl.edu	37	chr1	79383662	79383662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caatgagatagagatgtatgCcttcaatgcacatccatgca	14	10	8	9	0	1	2	1	1	0	2	2	4	2	2	2	0	3	3	2	0	4	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:79383662C>T	ENST00000370742.3	-	11	1598	c.1535G>A	c.(1534-1536)gGc>gAc	p.G512D		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	512					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.G512A(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)		GAGATGTATGCCTTCAATGCA	0.378																																																	1	Substitution - Missense(1)	lung(1)											142	134	136					1																	79383662		1882	4114	5996	SO:0001583	missense	0			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.1535G>A	1.37:g.79383662C>T	ENSP00000359778:p.Gly512Asp		B1AR71|Q5KU34	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.G512D	ENST00000370742.3	37	c.1535	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.064417	0.93898	.	.	ENSG00000162618	ENST00000370742	T	0.60548	0.18	6.08	6.08	0.98989	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.81903	0.4921	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84807	0.0788	9	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	512	Q9HBW9	ELTD1_HUMAN	D	512	ENSP00000359778:G512D	.	G	-	2	0	ELTD1	79156250	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GGC	ELTD1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000162618		0.378	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1		0	12	0	C	NM_022159		79383662	-1			no_errors	ENST00000370742	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	79383662	C	T	79383662	3	4	171	1	0	0	0	0	1	0	0	0	5100	739	26	3	557	3	ELTD1	1	79383662	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	24308630	79383662	169866959	8	42981											
S1PR1	1901	genome.wustl.edu	37	chr1	101704654	101704654	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggaaagctgaatatcagCgcggacaaggagaacagcat	16	4	13	8	3	1	2	1	1	0	1	1	5	1	4	0	3	4	2	0	3	5	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:101704654C>T	ENST00000305352.6	+	2	489	c.114C>T	c.(112-114)agC>agT	p.S38S	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	38					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGAATATCAGCGCGGACAAGG	0.502											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													116	110	112					1																	101704654		2203	4300	6503	SO:0001819	synonymous_variant	0			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.114C>T	1.37:g.101704654C>T		1360	D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.S38	ENST00000305352.6	37	c.114	CCDS777.1	1																																																																																			S1PR1	-	prints_EDG1_rcpt	ENSG00000170989		0.502	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR1	HGNC	protein_coding	OTTHUMT00000029908.1	-	0	61	0	C	NM_001400		101704654	1	tier1	-	no_errors	ENST00000305352	ensembl	human	known	74_37	silent	31.82	30	14	SNP	0.021	T	T	101704654	C	T	101704654	2	4	171	1	0	0	0	0	0	0	0	1	13838	767	27	1		1	S1PR1	1	101704654	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	22320992	101704654	147545967	9	42982											
AMPD2	271	genome.wustl.edu	37	chr1	110172511	110172511	+	Frame_Shift_Del	DEL	C	C	-																															gccttcatgctggctgagaaCatttcccacgggctccttct																										TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:110172511delC	ENST00000256578.3	+	15	2478	c.2118delC	c.(2116-2118)aacfs	p.N706fs	AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000342115.4_Frame_Shift_Del_p.N625fs|AMPD2_ENST00000528667.1_Frame_Shift_Del_p.N706fs|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Frame_Shift_Del_p.N588fs|AMPD2_ENST00000393688.3_Frame_Shift_Del_p.N587fs|AMPD2_ENST00000358729.4_Frame_Shift_Del_p.N631fs	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	706					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)		TGGCTGAGAACATTTCCCACG	0.607																																																	0													136	130	132					1																	110172511		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2118delC	1.37:g.110172511delC	ENSP00000256578:p.Asn706fs		B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Frame_Shift_Del	DEL	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.N706fs	ENST00000256578.3	37	c.2118	CCDS805.1	1																																																																																			AMPD2	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000116337		0.607	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPD2	HGNC	protein_coding	OTTHUMT00000390615.1		0	91	0	C			110172511	1	tier1		no_errors	ENST00000256578	ensembl	human	known	74_37	frame_shift_del	22.32	87	25	DEL	1.000	-	-	110172511	C	-	110172511	7	5	171	1	0	1	0	1	0	0	0	0	586	477	17	0	2217	0	AMPD2	1	110172511	Frame_Shift_Del	DEL	C	TCGA-VR-A8Q7-01A-11D-A37C-09	8467857	110172511	139078110	10	42983											
KIRREL	55243	genome.wustl.edu	37	chr1	158063493	158063493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttacgatgcattctgacCgggaggatgacaccgccagc	10	7	11	13	3	1	2	0	2	1	0	1	5	1	4	3	2	3	1	3	2	1	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:158063493C>T	ENST00000359209.6	+	13	1727	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	KIRREL_ENST00000360089.4_Missense_Mutation_p.R390W|KIRREL_ENST00000368173.3_Missense_Mutation_p.R570W|KIRREL_ENST00000392272.2_Missense_Mutation_p.R451W|KIRREL_ENST00000368172.1_Missense_Mutation_p.R368W|KIRREL_ENST00000416935.2_Missense_Mutation_p.R454W			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	554					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)	p.R554R(1)|p.R390R(1)|p.R570R(1)		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)					GCATTCTGACCGGGAGGATGA	0.607																																																	3	Substitution - coding silent(3)	endometrium(3)											101	84	90					1																	158063493		2203	4300	6503	SO:0001583	missense	0			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.1660C>T	1.37:g.158063493C>T	ENSP00000352138:p.Arg554Trp		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R570W	ENST00000359209.6	37	c.1708	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851202	0.71719	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.70164	0.48;-0.46;0.15;-0.1;-0.01;0.33	5.5	5.5	0.81552	.	0.000000	0.39210	N	0.001438	T	0.72581	0.3478	L	0.59436	1.845	0.41253	D	0.986729	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;P;P	0.77557	0.974;0.99;0.586;0.586	T	0.76130	-0.3072	10	0.87932	D	0	-25.6875	11.9109	0.52739	0.1739:0.826:0.0:0.0	.	454;390;368;554	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	W	390;570;451;554;454;368	ENSP00000353202:R390W;ENSP00000357155:R570W;ENSP00000376098:R451W;ENSP00000352138:R554W;ENSP00000389674:R454W;ENSP00000357154:R368W	ENSP00000352138:R554W	R	+	1	2	KIRREL	156330117	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	0.825000	0.27393	2.588000	0.87417	0.491000	0.48974	CGG	KIRREL	-	NULL	ENSG00000183853		0.607	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	-	0	36	0	C	NM_018240		158063493	1	tier1	-	no_errors	ENST00000368173	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	T	T	158063493	C	T	158063493	3	4	171	1	0	0	0	0	1	0	0	0	8351	643	23	1	1710	1	KIRREL	1	158063493	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	47890982	158063493	91187128	11	42984											
AIM2	9447	genome.wustl.edu	37	chr1	159032497	159032497	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctctatgttttttttttGgccttaataacctggatgga	7	20	7	7	0	1	0	0	0	1	0	2	2	1	2	2	3	1	1	2	3	3	9			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:159032497G>T	ENST00000368130.4	-	6	1305	c.1017C>A	c.(1015-1017)gcC>gcA	p.A339A		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	339					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTTTTTTGGCCTTAATAA	0.403																																																	0													173	139	150					1																	159032497		2203	4300	6503	SO:0001819	synonymous_variant	0			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.1017C>A	1.37:g.159032497G>T			A8K7M7|Q5T3V9|Q96FG9	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x	p.A339	ENST00000368130.4	37	c.1017	CCDS1181.1	1																																																																																			AIM2	-	NULL	ENSG00000163568		0.403	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM2	HGNC	protein_coding	OTTHUMT00000090341.1		0	43	0	G	NM_004833		159032497	-1			no_errors	ENST00000368130	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.000	T	T	159032497	G	T	159032497	2	4	171	1	0	0	0	0	0	0	0	1	432	1335	47	3		3	AIM2	1	159032497	Silent	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	969004	159032497	90218124	12	42985											
FMO3	2328	genome.wustl.edu	37	chr1	171086361	171086361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagatcccaaattggccatgGaagtttattttggcccttgt	9	14	9	9	0	0	1	0	0	0	1	1	2	1	2	3	3	0	1	3	3	3	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:171086361G>A	ENST00000367755.4	+	9	1489	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	FMO3_ENST00000538429.1_Missense_Mutation_p.E397K|FMO3_ENST00000392085.2_Missense_Mutation_p.E460K|FMO3_ENST00000542847.1_Missense_Mutation_p.E440K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	460					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)	ATTGGCCATGGAAGTTTATTT	0.512																																																	0													94	87	89					1																	171086361		2203	4300	6503	SO:0001583	missense	0			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.1378G>A	1.37:g.171086361G>A	ENSP00000356729:p.Glu460Lys		B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.E460K	ENST00000367755.4	37	c.1378	CCDS1292.1	1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330818	0.24167	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.34	3.41	0.39046	.	0.276439	0.40064	N	0.001195	T	0.14184	0.0343	L	0.33093	0.98	0.35875	D	0.828505	B;B;B	0.24043	0.096;0.003;0.001	B;B;B	0.24006	0.05;0.008;0.009	T	0.07849	-1.0751	10	0.08381	T	0.77	-19.8599	9.9473	0.41616	0.073:0.0:0.7895:0.1376	.	397;440;460	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	K	460;460;440;397	ENSP00000356729:E460K;ENSP00000375935:E460K;ENSP00000444073:E440K;ENSP00000439500:E397K	ENSP00000356729:E460K	E	+	1	0	FMO3	169352985	0.031000	0.19500	0.669000	0.29828	0.612000	0.37316	0.483000	0.22292	0.568000	0.29311	0.655000	0.94253	GAA	FMO3	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase	ENSG00000007933		0.512	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO3	HGNC	protein_coding	OTTHUMT00000086219.1	-	0	36	0	G	NM_006894		171086361	1	tier1	-	no_errors	ENST00000367755	ensembl	human	known	74_37	missense	31.11	31	14	SNP	0.996	A	A	171086361	G	A	171086361	3	1	171	1	0	0	0	0	1	0	0	0	5978	1175	41	3	1408	3	FMO3	1	171086361	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	12053864	171086361	78164260	13	42986											
RGS2	5997	genome.wustl.edu	37	chr1	192778269	192778269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacaagagcgcaggcagtgGccacaagagcgaggagaagc	14	1	17	9	2	0	3	0	0	0	3	0	6	0	4	1	4	3	2	1	4	3	0	rs148489044		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:192778269G>A	ENST00000235382.5	+	1	99	c.68G>A	c.(67-69)gGc>gAc	p.G23D	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	23					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCAGGCAGTGGCCACAAGAGC	0.567													G|||	1	0.000199681	0	0.0014	5008	,	,		17289	0		0	False		,,,				2504	0				Pancreas(71;51 2183 4981)												0								G	ASP/GLY	0,4406		0,0,2203	194	169	177		68	3.4	0.1	1	dbSNP_134	177	9,8591	7.1+/-27.0	0,9,4291	yes	missense	RGS2	NM_002923.3	94	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	benign	23/212	192778269	9,12997	2203	4300	6503	SO:0001583	missense	0			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"Regulators of G-protein signaling", "Endogenous ligands"	9998	protein-coding gene	gene with protein product		600861	"regulator of G-protein signalling 2, 24kD", "regulator of G-protein signalling 2, 24kDa", "regulator of G-protein signaling 2, 24kDa"	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.68G>A	1.37:g.192778269G>A	ENSP00000235382:p.Gly23Asp		Q6I9U5	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.G23D	ENST00000235382.5	37	c.68	CCDS1377.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.84	1.757369	0.31137	0.0	0.001047	ENSG00000116741	ENST00000235382	T	0.69685	-0.42	5.4	3.36	0.38483	.	1.122870	0.06734	N	0.777255	T	0.49201	0.1543	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.33497	-0.9866	10	0.13470	T	0.59	.	7.5677	0.27890	0.0935:0.0:0.7374:0.1691	.	23	P41220	RGS2_HUMAN	D	23	ENSP00000235382:G23D	ENSP00000235382:G23D	G	+	2	0	RGS2	191044892	0.188000	0.23250	0.105000	0.21289	0.822000	0.46500	3.154000	0.50693	1.466000	0.48025	0.655000	0.94253	GGC	RGS2	-	NULL	ENSG00000116741		0.567	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS2	HGNC	protein_coding	OTTHUMT00000086396.1		0	71	0	G	NM_002923		192778269	1			no_errors	ENST00000235382	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.061	A	A	192778269	G	A	192778269	3	1	171	1	0	0	0	0	1	0	0	0	13347	1203	42	3	70	3	RGS2	1	192778269	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	21691908	192778269	56472352	14	42987											
PLXNA2	5362	genome.wustl.edu	37	chr1	208218548	208218548	+	Frame_Shift_Del	DEL	T	T	-																															cagaggcaggagggcagaggTttttgccctgtagagaatag																										TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:208218548delT	ENST00000367033.3	-	19	4260	c.3503delA	c.(3502-3504)aacfs	p.N1168fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1168	IPT/TIG 4.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGGCAGAGGTTTTTGCCCTG	0.498																																																	0													118	106	110					1																	208218548		2203	4300	6503	SO:0001589	frameshift_variant	0			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.3503delA	1.37:g.208218548delT	ENSP00000356000:p.Asn1168fs		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.N1168fs	ENST00000367033.3	37	c.3503	CCDS31013.1	1																																																																																			PLXNA2	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000076356		0.498	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6		0	31	0	T	NM_025179		208218548	-1	tier1		no_errors	ENST00000367033	ensembl	human	known	74_37	frame_shift_del	10.71	25	3	DEL	1.000	-	-	208218548	T	-	208218548	7	5	171	1	0	1	0	1	0	0	0	0	12159	1725	60	0	2237	0	PLXNA2	1	208218548	Frame_Shift_Del	DEL	T	TCGA-VR-A8Q7-01A-11D-A37C-09	15440279	208218548	41032073	15	42988											
ACTA1	58	genome.wustl.edu	37	chr1	229567270	229567270	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcatttgcggtggacgatGgaagggccggcctcgtcgta	8	8	16	9	5	0	0	0	0	0	0	2	3	0	2	2	5	2	2	2	5	3	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr1:229567270G>T	ENST00000366684.3	-	7	1212	c.1110C>A	c.(1108-1110)tcC>tcA	p.S370S	ACTA1_ENST00000366683.2_Silent_p.S282S	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	370					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GGTGGACGATGGAAGGGCCGG	0.607																																																	0													134	124	127					1																	229567270		2203	4300	6503	SO:0001819	synonymous_variant	0			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.1110C>A	1.37:g.229567270G>T			P02568|P99020|Q5T8M9	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.S370	ENST00000366684.3	37	c.1110	CCDS1578.1	1																																																																																			ACTA1	-	pfam_Actin-related,smart_Actin-related	ENSG00000143632		0.607	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1	-	0	41	0	G	NM_001100		229567270	-1	tier1	-	no_errors	ENST00000366684	ensembl	human	known	74_37	silent	36.21	37	21	SNP	1.000	T	T	229567270	G	T	229567270	2	4	171	1	0	0	0	0	0	0	0	1	191	1335	47	3		3	ACTA1	1	229567270	Silent	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	21348722	229567270	19683351	16	42989											
APOB	338	genome.wustl.edu	37	chr2	21233395	21233395	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctgtgggagttttccCagggctgctctgtattttct	3	17	12	9	0	2	0	0	0	2	0	3	1	3	1	1	2	2	6	1	2	1	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:21233395C>A	ENST00000233242.1	-	26	6472	c.6345G>T	c.(6343-6345)ctG>ctT	p.L2115L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2115	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGTTTTCCCAGGGCTGCTC	0.388																																																	0													60	61	61					2																	21233395		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6345G>T	2.37:g.21233395C>A			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L2115	ENST00000233242.1	37	c.6345	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.388	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0	32	0	C			21233395	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.025	A	A	21233395	C	A	21233395	2	1	171	1	0	0	0	0	0	0	0	1	785	581	21	3		3	APOB	2	21233395	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09		21233395	221965978	17	42990											
AGBL5	60509	genome.wustl.edu	37	chr2	27275949	27275949	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaggaggtggggcgtcagcCctgaccagtggcattgcctc	6	8	16	11	1	1	1	1	1	0	0	2	2	1	2	3	5	2	2	3	5	1	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:27275949C>A	ENST00000360131.4	+	2	282	c.123C>A	c.(121-123)gcC>gcA	p.A41A	AGBL5_ENST00000323064.8_Silent_p.A41A|RP11-503P10.1_ENST00000607407.1_RNA|AGBL5-AS1_ENST00000444217.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	41					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCGTCAGCCCTGACCAGTG	0.527																																																	0													104	100	101					2																	27275949		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.123C>A	2.37:g.27275949C>A			A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Silent	SNP	pfam_Peptidase_M14	p.A41	ENST00000360131.4	37	c.123	CCDS1732.3	2																																																																																			AGBL5	-	NULL	ENSG00000084693		0.527	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	-	0	55	0	C	NM_021831		27275949	1	tier1	-	no_errors	ENST00000360131	ensembl	human	known	74_37	silent	31.91	32	15	SNP	0.975	A	A	27275949	C	A	27275949	2	1	171	1	0	0	0	0	0	0	0	1	378	610	22	3		3	AGBL5	2	27275949	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	6042554	27275949	215923424	18	42991											
BIRC6	57448	genome.wustl.edu	37	chr2	32661251	32661251	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaagccccaaacttgttaaAggtgaagtaatacattttac	16	11	6	8	0	0	1	0	1	0	0	0	1	0	1	2	1	4	2	2	1	8	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:32661251A>T	ENST00000421745.2	+	15	3764	c.3630A>T	c.(3628-3630)aaA>aaT	p.K1210N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1210					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)					AACTTGTTAAAGGTGAAGTAA	0.343																																					Pancreas(94;175 1509 16028 18060 45422)												0													37	33	34					2																	32661251		2198	4276	6474	SO:0001630	splice_region_variant	0			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.3631+1A>T	2.37:g.32661251A>T			Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.K1210N	ENST00000421745.2	37	c.3630	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430863	0.83776	.	.	ENSG00000115760	ENST00000421745;ENST00000444173	T	0.76709	-1.04	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.85682	0.5753	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.87299	0.2304	10	0.87932	D	0	.	15.1044	0.72310	1.0:0.0:0.0:0.0	.	1210	Q9NR09	BIRC6_HUMAN	N	1210;96	ENSP00000393596:K1210N	ENSP00000393596:K1210N	K	+	3	2	BIRC6	32514755	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.572000	0.82409	1.966000	0.57179	0.528000	0.53228	AAA	BIRC6	-	NULL	ENSG00000115760		0.343	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0	77	0	A	NM_016252	Missense_Mutation	32661251	1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	10.89	90	11	SNP	1.000	T	T	32661251	A	T	32661251	5	4	171	1	0	0	0	0	0	0	1	0	1440	86	3	5	3688	5	BIRC6	2	32661251	Splice_Site	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	5385302	32661251	210538122	19	42992											
LTBP1	4052	genome.wustl.edu	37	chr2	33413734	33413734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcaagaattgatggccCaacaggccagaagacaaaag	16	6	11	8	0	1	4	1	1	0	3	1	4	1	4	2	3	1	1	2	3	6	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:33413734C>A	ENST00000404816.2	+	7	1870	c.1517C>A	c.(1516-1518)cCa>cAa	p.P506Q	LTBP1_ENST00000407925.1_Missense_Mutation_p.P180Q|LTBP1_ENST00000418533.2_Missense_Mutation_p.P180Q|LTBP1_ENST00000354476.3_Missense_Mutation_p.P506Q|LTBP1_ENST00000402934.1_Missense_Mutation_p.P180Q|LTBP1_ENST00000404525.1_Missense_Mutation_p.P180Q|LTBP1_ENST00000390003.4_Missense_Mutation_p.P180Q			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	506					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)				ATTGATGGCCCAACAGGCCAG	0.463																																																	0													105	98	100					2																	33413734		2203	4300	6503	SO:0001583	missense	0				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.1517C>A	2.37:g.33413734C>A	ENSP00000386043:p.Pro506Gln		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P506Q	ENST00000404816.2	37	c.1517	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006042	0.74932	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	T;T;T;T;T;T;T	0.79653	-1.29;-1.28;-1.24;-1.19;-1.23;-1.21;-1.2	5.69	5.69	0.88448	.	.	.	.	.	T	0.75882	0.3910	L	0.34521	1.04	0.80722	D	1	B;P;B;B;P;P	0.48089	0.411;0.716;0.007;0.404;0.905;0.547	B;B;B;B;P;B	0.44518	0.192;0.203;0.004;0.249;0.452;0.353	T	0.71932	-0.4443	9	0.18276	T	0.48	.	19.889	0.96921	0.0:1.0:0.0:0.0	.	506;180;180;180;180;506	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	Q	506;506;195;180;180;180;180;180	ENSP00000386043:P506Q;ENSP00000346467:P506Q;ENSP00000374653:P180Q;ENSP00000393057:P180Q;ENSP00000384373:P180Q;ENSP00000385359:P180Q;ENSP00000384091:P180Q	ENSP00000346467:P506Q	P	+	2	0	LTBP1	33267238	0.996000	0.38824	0.934000	0.37439	0.959000	0.62525	5.464000	0.66719	2.719000	0.93026	0.556000	0.70494	CCA	LTBP1	-	NULL	ENSG00000049323		0.463	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	-	0	45	0	C	NM_206943		33413734	1	tier1	-	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	38.00	31	19	SNP	0.971	A	A	33413734	C	A	33413734	3	1	171	1	0	0	0	0	1	0	0	0	9108	594	21	3	1598	3	LTBP1	2	33413734	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	752483	33413734	209785639	20	42993											
CEBPZ	10153	genome.wustl.edu	37	chr2	37428939	37428939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttttagttttttgagtggTtttaatcctcttctttttaa	6	26	5	4	0	2	1	0	1	2	0	3	1	3	1	1	1	0	2	1	1	3	12			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:37428939T>C	ENST00000234170.5	-	16	3278	c.3133A>G	c.(3133-3135)Acc>Gcc	p.T1045A	AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397226.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1045					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)				TTTTGAGTGGTTTTAATCCTC	0.294																																																	0													50	48	49					2																	37428939		2203	4300	6503	SO:0001583	missense	0			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.3133A>G	2.37:g.37428939T>C	ENSP00000234170:p.Thr1045Ala		Q8NE75	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.T1045A	ENST00000234170.5	37	c.3133	CCDS1787.1	2	.	.	.	.	.	.	.	.	.	.	T	10.28	1.305420	0.23736	.	.	ENSG00000115816	ENST00000234170	T	0.13196	2.61	5.73	-8.83	0.00806	.	0.879550	0.10293	N	0.692120	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37407	-0.9707	10	0.87932	D	0	.	2.9416	0.05833	0.1806:0.1163:0.4313:0.2718	.	1045	Q03701	CEBPZ_HUMAN	A	1045	ENSP00000234170:T1045A	ENSP00000234170:T1045A	T	-	1	0	CEBPZ	37282443	0.042000	0.20092	0.000000	0.03702	0.941000	0.58515	0.457000	0.21875	-2.017000	0.00944	0.524000	0.50904	ACC	CEBPZ	-	NULL	ENSG00000115816		0.294	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2	-	0	47	0	T	NM_005760		37428939	-1	tier1	-	no_errors	ENST00000234170	ensembl	human	known	74_37	missense	32.86	47	23	SNP	0.001	C	C	37428939	T	C	37428939	3	2	171	1	0	0	0	0	1	0	0	0	3211	1725	60	4	35	4	CEBPZ	2	37428939	Missense_Mutation	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	4015205	37428939	205770434	21	42994											
MTIF2	4528	genome.wustl.edu	37	chr2	55490859	55490859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccaggcacacagttgagCtgtccacacagggtaagcag	11	5	14	11	0	0	1	0	1	0	0	1	1	1	1	2	3	2	5	2	3	1	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:55490859C>T	ENST00000263629.4	-	4	451	c.136G>A	c.(136-138)Gct>Act	p.A46T	MTIF2_ENST00000394600.3_Missense_Mutation_p.A46T|MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000403721.1_Missense_Mutation_p.A46T	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	46					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						CACAGTTGAGCTGTCCACACA	0.453																																																	0													161	138	146					2																	55490859		2203	4300	6503	SO:0001583	missense	0			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.136G>A	2.37:g.55490859C>T	ENSP00000263629:p.Ala46Thr		D6W5D0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom	p.A46T	ENST00000263629.4	37	c.136	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014143	0.35511	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023;ENST00000366137;ENST00000441307;ENST00000404297	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.81;0.81;0.81	5.18	3.38	0.38709	.	0.414276	0.23696	N	0.045473	T	0.43590	0.1254	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.33445	-0.9868	10	0.39692	T	0.17	-2.6354	8.5319	0.33340	0.0:0.7315:0.1264:0.1421	.	46	P46199	IF2M_HUMAN	T	46	ENSP00000384481:A46T;ENSP00000263629:A46T;ENSP00000378099:A46T;ENSP00000393337:A46T;ENSP00000388640:A46T;ENSP00000383880:A46T	ENSP00000263629:A46T	A	-	1	0	MTIF2	55344363	0.004000	0.15560	0.003000	0.11579	0.193000	0.23685	0.234000	0.17930	0.689000	0.31550	0.555000	0.69702	GCT	MTIF2	-	NULL	ENSG00000085760		0.453	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	-	0	51	0	C	NM_002453		55490859	-1	tier1	-	no_errors	ENST00000263629	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.004	T	T	55490859	C	T	55490859	3	4	171	1	0	0	0	0	1	0	0	0	9972	797	28	3	2099	3	MTIF2	2	55490859	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	18061920	55490859	187708514	22	42995											
C2orf3	6936	genome.wustl.edu	37	chr2	75921495	75921495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgagcttttgacatcttGtacgtatttttcatactccc	7	19	5	10	1	2	2	1	2	1	0	3	2	3	2	1	0	3	3	1	0	3	9	rs533618591		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:75921495G>C	ENST00000321027.3	-	6	1025	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	GCFC2_ENST00000409857.3_Missense_Mutation_p.Q260E|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	298					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)										TTGACATCTTGTACGTATTTT	0.303																																																	0													170	179	176					2																	75921495		2203	4300	6503	SO:0001583	missense	0			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.892C>G	2.37:g.75921495G>C	ENSP00000318690:p.Gln298Glu		A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	pfam_GCFC_dom	p.Q298E	ENST00000321027.3	37	c.892	CCDS1961.1	2	.	.	.	.	.	.	.	.	.	.	G	0.067	-1.210531	0.01555	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.14391	2.51;2.56	5.29	-0.388	0.12459	.	0.821822	0.11274	N	0.581150	T	0.11707	0.0285	L	0.40543	1.245	0.33971	D	0.646856	B	0.06786	0.001	B	0.08055	0.003	T	0.36089	-0.9762	10	0.15499	T	0.54	-3.5129	14.493	0.67665	0.0:0.6657:0.2227:0.1115	.	298	P16383	GCF_HUMAN	E	298;260	ENSP00000318690:Q298E;ENSP00000386552:Q260E	ENSP00000318690:Q298E	Q	-	1	0	C2orf3	75775003	0.021000	0.18746	0.067000	0.19924	0.068000	0.16541	0.151000	0.16283	-0.314000	0.08716	0.655000	0.94253	CAA	GCFC2	-	NULL	ENSG00000005436		0.303	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC2	HGNC	protein_coding	OTTHUMT00000252255.2	-	0	72	0	G	NM_003203		75921495	-1	tier1	-	no_errors	ENST00000321027	ensembl	human	known	74_37	missense	10.53	85	10	SNP	0.018	C	C	75921495	G	C	75921495	3	2	171	1	0	0	0	0	1	0	0	0	2169	1386	48	5	1501	5	C2orf3	2	75921495	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	20430636	75921495	167277878	23	42996											
CNNM4	26504	genome.wustl.edu	37	chr2	97427122	97427122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgagccgcgggaacacgtCcggcgtgctggtggtgctca	5	7	17	12	6	1	1	1	1	0	0	2	2	2	2	2	4	4	2	2	4	1	0			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:97427122C>A	ENST00000377075.2	+	1	484	c.386C>A	c.(385-387)tCc>tAc	p.S129Y		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	129					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						GGGAACACGTCCGGCGTGCTG	0.657																																																	0													63	62	62					2																	97427122		2203	4300	6503	SO:0001583	missense	0			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.386C>A	2.37:g.97427122C>A	ENSP00000366275:p.Ser129Tyr		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.S129Y	ENST00000377075.2	37	c.386	CCDS2024.2	2	.	.	.	.	.	.	.	.	.	.	c	18.52	3.642476	0.67244	.	.	ENSG00000158158	ENST00000377075	T	0.78246	-1.16	4.72	3.74	0.42951	.	0.608041	0.14430	U	0.320100	T	0.76263	0.3963	M	0.65975	2.015	0.80722	D	1	P	0.46706	0.883	P	0.44772	0.46	T	0.77512	-0.2560	10	0.56958	D	0.05	-19.6042	8.3618	0.32363	0.1673:0.7401:0.0:0.0925	.	129	Q6P4Q7	CNNM4_HUMAN	Y	129	ENSP00000366275:S129Y	ENSP00000366275:S129Y	S	+	2	0	CNNM4	96790849	0.993000	0.37304	0.999000	0.59377	0.998000	0.95712	3.191000	0.50981	2.189000	0.69895	0.550000	0.68814	TCC	CNNM4	-	NULL	ENSG00000158158		0.657	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1	-	0	25	0	C	NM_020184		97427122	1	tier1	-	no_errors	ENST00000377075	ensembl	human	known	74_37	missense	28.00	18	7	SNP	0.998	A	A	97427122	C	A	97427122	3	1	171	1	0	0	0	0	1	0	0	0	3622	855	30	3	388	3	CNNM4	2	97427122	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	21505627	97427122	145772251	24	42997											
ANKRD23	200539	genome.wustl.edu	37	chr2	97508119	97508119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactttcttcttcttctcttCttccaatttcagcttctccc	4	20	1	16	0	7	0	1	0	6	0	10	0	8	0	2	0	1	1	2	0	1	8			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:97508119C>T	ENST00000318357.4	-	2	198	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	ANKRD23_ENST00000418232.1_Missense_Mutation_p.E53K|ANKRD23_ENST00000476975.1_5'Flank|ANKRD23_ENST00000331001.2_Missense_Mutation_p.E53K	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	53					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TTCTTCTCTTCTTCCAATTTC	0.622																																																	0													40	46	44					2																	97508119		2202	4300	6502	SO:0001583	missense	0				CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"Ankyrin repeat domain containing"	24470	protein-coding gene	gene with protein product	"diabetes related ankyrin repeat protein"	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.157G>A	2.37:g.97508119C>T	ENSP00000321679:p.Glu53Lys		Q711K7|Q8NAJ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E53K	ENST00000318357.4	37	c.157	CCDS2027.1	2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527337	0.85706	.	.	ENSG00000163126	ENST00000318357;ENST00000418232;ENST00000331001	T;T;T	0.70631	-0.5;-0.5;-0.24	5.07	5.07	0.68467	.	0.000000	0.39985	N	0.001208	T	0.74891	0.3776	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.996;0.988	D;P	0.76071	0.987;0.696	T	0.70626	-0.4820	10	0.26408	T	0.33	-23.9401	13.8819	0.63686	0.0:1.0:0.0:0.0	.	53;53	Q86SG2-2;Q86SG2	.;ANR23_HUMAN	K	53	ENSP00000321679:E53K;ENSP00000398987:E53K;ENSP00000333108:E53K	ENSP00000321679:E53K	E	-	1	0	ANKRD23	96871846	0.656000	0.27385	0.984000	0.44739	0.966000	0.64601	2.193000	0.42658	2.637000	0.89404	0.650000	0.86243	GAA	ANKRD23	-	NULL	ENSG00000163126		0.622	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD23	HGNC	protein_coding	OTTHUMT00000252956.1	-	0	87	0	C	NM_144994		97508119	-1	tier1	-	no_errors	ENST00000318357	ensembl	human	known	74_37	missense	37.76	61	37	SNP	0.976	T	T	97508119	C	T	97508119	3	4	171	1	0	0	0	0	1	0	0	0	652	922	32	3	792	3	ANKRD23	2	97508119	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	80997	97508119	145691254	25	42998											
CHST10	9486	genome.wustl.edu	37	chr2	101010094	101010094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcccccgggtctctgtccgGttcctcctgtattttctgat	3	16	8	14	2	2	1	0	1	2	0	7	1	6	1	5	2	0	2	5	2	1	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:101010094G>A	ENST00000264249.3	-	7	1069	c.684C>T	c.(682-684)aaC>aaT	p.N228N	CHST10_ENST00000542617.1_Silent_p.N276N|CHST10_ENST00000409701.1_Silent_p.N228N	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	228					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TCTCTGTCCGGTTCCTCCTGT	0.488																																																	0													169	167	168					2																	101010094		2203	4300	6503	SO:0001819	synonymous_variant	0			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.684C>T	2.37:g.101010094G>A			Q53T18	Silent	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.N276	ENST00000264249.3	37	c.828	CCDS2047.1	2																																																																																			CHST10	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000115526		0.488	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	HGNC	protein_coding	OTTHUMT00000253162.1		0	31	0	G	NM_004854		101010094	-1			no_errors	ENST00000542617	ensembl	human	known	74_37	silent	11.11	32	4	SNP	1.000	A	A	101010094	G	A	101010094	2	1	171	1	0	0	0	0	0	0	0	1	3405	1252	44	3		3	CHST10	2	101010094	Silent	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	3501975	101010094	142189279	26	42999											
TANC1	85461	genome.wustl.edu	37	chr2	160086369	160086369	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccccaactcccaggtccCagccatcctcatctgtccct	6	11	4	20	0	2	0	1	0	1	0	7	0	7	0	7	1	2	0	7	1	1	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:160086369C>T	ENST00000263635.6	+	27	4669	c.4432C>T	c.(4432-4434)Cag>Tag	p.Q1478*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.Q1372*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1478					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						TCCCAGGTCCCAGCCATCCTC	0.537																																																	0													96	104	102					2																	160086369		1984	4152	6136	SO:0001587	stop_gained	0			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.4432C>T	2.37:g.160086369C>T	ENSP00000263635:p.Gln1478*		C9JD88|Q49AI8	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.Q1478*	ENST00000263635.6	37	c.4432	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.856207	0.98980	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	5.89	5.89	0.94794	.	0.711471	0.14722	N	0.302271	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4457	0.61140	0.0:0.9288:0.0:0.0712	.	.	.	.	X	1372;1478	.	.	Q	+	1	0	TANC1	159794615	0.930000	0.31532	0.531000	0.27976	0.025000	0.11179	3.180000	0.50895	2.781000	0.95711	0.655000	0.94253	CAG	TANC1	-	NULL	ENSG00000115183		0.537	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1		0	26	0	C			160086369	1			no_errors	ENST00000263635	ensembl	human	known	74_37	nonsense	13.64	19	3	SNP	0.569	T	T	160086369	C	T	160086369	4	4	171	1	0	0	0	0	0	1	0	0	15591	595	21	3	4535	3	TANC1	2	160086369	Nonsense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	59076275	160086369	83113004	27	43000											
KCNH7	90134	genome.wustl.edu	37	chr2	163302673	163302673	+	Missense_Mutation	SNP	A	A	G	1	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	gatttacatatgttgttctgAagtttattaaaatatctatg	13	19	6	3	0	2	1	0	1	2	0	2	2	2	1	0	0	1	3	0	0	8	10			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:163302673A>G	ENST00000332142.5	-	7	1508	c.1409T>C	c.(1408-1410)tTc>tCc	p.F470S	KCNH7_ENST00000328032.4_Missense_Mutation_p.F463S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	470					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.F470C(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGTTGTTCTGAAGTTTATTAA	0.358																																					GBM(196;1492 2208 17507 24132 45496)												1	Substitution - Missense(1)	ovary(1)											99	92	94					2																	163302673		2203	4300	6503	SO:0001583	missense	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1409T>C	2.37:g.163302673A>G	ENSP00000331727:p.Phe470Ser		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.F470S	ENST00000332142.5	37	c.1409	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474598	0.84640	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96011	-3.88;-3.88	5.7	5.7	0.88788	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.986;0.999	D	0.99544	1.0964	10	0.87932	D	0	.	15.9661	0.79970	1.0:0.0:0.0:0.0	.	463;470	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	S	470;463	ENSP00000331727:F470S;ENSP00000333781:F463S	ENSP00000333781:F463S	F	-	2	0	KCNH7	163010919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.182000	0.69389	0.528000	0.53228	TTC	KCNH7	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000184611		0.358	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1		0	28	0	A	NM_033272		163302673	-1			no_errors	ENST00000332142	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	G	G	163302673	A	G	163302673	3	3	171	1	0	0	0	0	1	0	0	0	8064	246	9	4	2287	4	KCNH7	2	163302673	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	3216304	163302673	79896700	28	43001											
DCAF17	80067	genome.wustl.edu	37	chr2	172305295	172305296	+	Nonsense_Mutation	DNP	GA	GA	TT																															actacgggaaaaatccttgaGaaaatatatcttgcacctta																										TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:172305295_172305296GA>TT	ENST00000375255.3	+	4	753_754	c.426_427GA>TT	c.(424-429)gaGAaa>gaTTaa	p.142_143EK>D*	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Nonsense_Mutation_p.142_143EK>D*	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	142					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E142D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AAATCCTTGAGAAAATATATCT	0.322																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001587	stop_gained	0			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	Exception_encountered	2.37:g.172305295_172305296delinsTT	ENSP00000364404:p.E142_K143delinsD*		B2RTW5|Q53TN3|Q9H908	Missense_Mutation|Nonsense_Mutation	SNP	NULL	p.E142D|p.K143*	ENST00000375255.3	37	c.426|c.427	CCDS2243.2	2																																																																																			DCAF17	-	NULL	ENSG00000115827		0.322	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF17	HGNC	protein_coding	OTTHUMT00000255342.2	-	0	85	0	G|A	NM_025000		172305295|172305296	1	tier1	-	no_errors	ENST00000375255	ensembl	human	known	74_37	missense|nonsense	10.45|11.76	60	7|8	SNP	1.000	T	TT	172305296	GA	TT	172305295	4	4	171	1	0	0	0	0	0	1	0	0	4278	933	33	3	440	3	DCAF17	2	172305295	Nonsense_Mutation	DNP	GA	TCGA-VR-A8Q7-01A-11D-A37C-09	9002622	172305295	70894078	29	43002											
HOXD12	3238	genome.wustl.edu	37	chr2	176964615	176964615	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctctttctacttctccaaccTgaggccgaatggcggccagt	7	11	9	14	2	3	1	0	1	3	0	4	2	3	1	4	3	2	0	4	3	3	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:176964615T>C	ENST00000406506.2	+	1	158	c.86T>C	c.(85-87)cTg>cCg	p.L29P	HOXD12_ENST00000404162.2_Missense_Mutation_p.L29P			P35452	HXD12_HUMAN	homeobox D12	29					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TTCTCCAACCTGAGGCCGAAT	0.662																																																	0													52	57	55					2																	176964615		1852	4072	5924	SO:0001583	missense	0				CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"Homeoboxes / ANTP class : HOXL subclass"	5135	protein-coding gene	gene with protein product		142988	"homeo box D12"	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.86T>C	2.37:g.176964615T>C	ENSP00000385586:p.Leu29Pro		B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.L29P	ENST00000406506.2	37	c.86	CCDS46456.1	2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957634	0.73902	.	.	ENSG00000170178	ENST00000406506;ENST00000404162	T;T	0.49432	0.78;0.78	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	T	0.70736	0.3258	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75811	-0.3186	10	0.87932	D	0	.	13.9569	0.64155	0.0:0.0:0.0:1.0	.	29;29	B5MCD3;P35452	.;HXD12_HUMAN	P	29	ENSP00000385586:L29P;ENSP00000385132:L29P	ENSP00000385132:L29P	L	+	2	0	HOXD12	176672861	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.048000	0.76606	2.118000	0.64928	0.533000	0.62120	CTG	HOXD12	-	NULL	ENSG00000170178		0.662	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXD12	HGNC	protein_coding	OTTHUMT00000359253.2	-	0	27	0	T	NM_021193		176964615	1	tier1	-	no_errors	ENST00000406506	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	C	C	176964615	T	C	176964615	3	2	171	1	0	0	0	0	1	0	0	0	7348	1580	55	4	88	4	HOXD12	2	176964615	Missense_Mutation	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	4659320	176964615	66234758	30	43003											
TTN	7273	genome.wustl.edu	37	chr2	179428350	179428350	+	Silent	SNP	G	G	T	0	0	1	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	tctcgtttttcaagaatgtaGccctcaatttcggtacctcc	8	15	6	12	2	3	1	2	0	1	1	6	1	4	1	3	1	2	3	3	1	5	5			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:179428350G>T	ENST00000591111.1	-	276	77810	c.77586C>A	c.(77584-77586)ggC>ggA	p.G25862G	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.G24935G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.G27503G|TTN_ENST00000342175.6_Silent_p.G18630G|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.G18438G|TTN_ENST00000359218.5_Silent_p.G18563G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25862	Fibronectin type-III 88. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGAATGTAGCCCTCAATTT	0.483																																																	0													130	128	129					2																	179428350		1980	4163	6143	SO:0001819	synonymous_variant	0			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.77586C>A	2.37:g.179428350G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G24935	ENST00000591111.1	37	c.74805		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.483	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	75	0	G	NM_133378		179428350	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	28.92	59	24	SNP	0.746	T	T	179428350	G	T	179428350	2	4	171	1	0	0	0	0	0	0	0	1	16784	958	34	3		3	TTN	2	179428350	Silent	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	2463735	179428350	63771023	31	43004											
FSIP2	401024	genome.wustl.edu	37	chr2	186620970	186620970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatataatgttagtttatcCtgctggagaccagaatacat	14	13	8	6	0	0	3	0	0	0	3	1	4	1	3	2	1	2	3	2	1	6	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:186620970C>G	ENST00000424728.1	+	9	1043	c.1043C>G	c.(1042-1044)cCt>cGt	p.P348R	FSIP2_ENST00000343098.5_Missense_Mutation_p.P437R|FSIP2_ENST00000546113.1_Intron			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	348										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTAGTTTATCCTGCTGGAGAC	0.284																																																	0																																										SO:0001583	missense	0			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.1043C>G	2.37:g.186620970C>G	ENSP00000401306:p.Pro348Arg		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.P437R	ENST00000424728.1	37	c.1310		2	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142216	0.37825	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.49432	0.78;0.78	4.43	4.43	0.53597	.	1.628260	0.03499	N	0.217812	T	0.52075	0.1712	L	0.27053	0.805	0.09310	N	1	D	0.58268	0.982	P	0.52481	0.7	T	0.52366	-0.8585	10	0.56958	D	0.05	.	12.7231	0.57154	0.0:1.0:0.0:0.0	.	348	Q5CZC0	FSIP2_HUMAN	R	437;348;348	ENSP00000344403:P437R;ENSP00000401306:P348R	ENSP00000321903:P348R	P	+	2	0	FSIP2	186329215	0.001000	0.12720	0.008000	0.14137	0.276000	0.26787	0.465000	0.22004	2.453000	0.82957	0.650000	0.86243	CCT	FSIP2	-	NULL	ENSG00000188738		0.284	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	51	0	C	NM_173651		186620970	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	17.24	48	10	SNP	0.012	G	G	186620970	C	G	186620970	3	3	171	1	0	0	0	0	1	0	0	0	6099	681	24	5	1344	5	FSIP2	2	186620970	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	7192620	186620970	56578403	32	43005											
DYTN	391475	genome.wustl.edu	37	chr2	207557996	207557996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacagcgcccctgaagaaGgttgtttctgagggtcctga	8	10	12	11	1	1	4	0	3	1	1	2	4	2	4	4	2	2	2	4	2	3	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:207557996G>T	ENST00000452335.2	-	9	999	c.883C>A	c.(883-885)Ctt>Att	p.L295I		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	295						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L295I(2)		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)		CCCTGAAGAAGGTTGTTTCTG	0.507																																																	2	Substitution - Missense(2)	lung(2)											82	80	80					2																	207557996		1942	4157	6099	SO:0001583	missense	0			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.883C>A	2.37:g.207557996G>T	ENSP00000396593:p.Leu295Ile			Missense_Mutation	SNP	pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	p.L295I	ENST00000452335.2	37	c.883	CCDS46502.1	2	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452525	0.43531	.	.	ENSG00000232125	ENST00000452335	T	0.15603	2.41	5.2	3.25	0.37280	.	.	.	.	.	T	0.14657	0.0354	L	0.29908	0.895	0.09310	N	0.99999	P	0.48407	0.91	B	0.44163	0.443	T	0.09400	-1.0676	9	0.72032	D	0.01	-0.7607	8.6028	0.33756	0.2448:0.0:0.7552:0.0	.	295	A2CJ06	DYTN_HUMAN	I	295	ENSP00000396593:L295I	ENSP00000396593:L295I	L	-	1	0	DYTN	207266241	1.000000	0.71417	0.904000	0.35570	0.502000	0.33828	1.782000	0.38654	1.419000	0.47118	-0.266000	0.10368	CTT	DYTN	-	NULL	ENSG00000232125		0.507	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYTN	HGNC	protein_coding	OTTHUMT00000336799.1		0	34	0	G			207557996	-1			no_errors	ENST00000452335	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.387	T	T	207557996	G	T	207557996	3	4	171	1	0	0	0	0	1	0	0	0	4875	1000	35	3	869	3	DYTN	2	207557996	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	20937026	207557996	35641377	33	43006											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209150489	209150489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattgtagaaaaatagcctTaagttatgctcattccacag	15	13	6	7	0	1	1	1	0	0	1	2	1	2	1	2	0	2	3	2	0	7	7			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:209150489T>C	ENST00000264380.4	+	6	811	c.653T>C	c.(652-654)tTa>tCa	p.L218S	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.L121S|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.L218S|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.L132S	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	218					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						AAAATAGCCTTAAGTTATGCT	0.383																																																	0													123	121	121					2																	209150489		2203	4300	6503	SO:0001583	missense	0			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.653T>C	2.37:g.209150489T>C	ENSP00000264380:p.Leu218Ser		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.L218S	ENST00000264380.4	37	c.653	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	T	27.6	4.849415	0.91277	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000422495;ENST00000452564	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.06	6.06	0.98353	Zinc finger, FYVE-type (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000007	T	0.62282	0.2415	M	0.77406	2.37	0.80722	D	1	P;D;D;P;D	0.62365	0.879;0.991;0.99;0.872;0.962	P;P;P;P;P	0.62089	0.511;0.898;0.858;0.659;0.662	T	0.59600	-0.7424	10	0.21540	T	0.41	-5.0846	16.6093	0.84858	0.0:0.0:0.0:1.0	.	218;218;132;218;121	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	S	121;218;218;132;230;218	ENSP00000264380:L218S;ENSP00000384356:L218S;ENSP00000414477:L230S;ENSP00000405736:L218S	ENSP00000264380:L218S	L	+	2	0	PIKFYVE	208858734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	TTA	PIKFYVE	-	superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000115020		0.383	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	-	0	40	0	T	NM_015040		209150489	1	tier1	-	no_errors	ENST00000264380	ensembl	human	known	74_37	missense	20.00	52	13	SNP	1.000	C	C	209150489	T	C	209150489	3	2	171	1	0	0	0	0	1	0	0	0	11963	1764	61	4	671	4	PIKFYVE	2	209150489	Missense_Mutation	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	1592493	209150489	34048884	34	43007											
NCL	4691	genome.wustl.edu	37	chr2	232320317	232320317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggcatcctcctcactgttGaagtctacaaaaccaaacct	12	11	5	13	0	2	1	1	1	1	0	4	1	4	1	4	1	3	2	4	1	5	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:232320317G>A	ENST00000322723.4	-	13	2091	c.1851C>T	c.(1849-1851)ttC>ttT	p.F617F	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	617	RRM 4. {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)	p.F617F(1)		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)		CCTCACTGTTGAAGTCTACAA	0.448																																																	1	Substitution - coding silent(1)	ovary(1)											152	162	158					2																	232320317		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1851C>T	2.37:g.232320317G>A			Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.F617	ENST00000322723.4	37	c.1851	CCDS33397.1	2																																																																																			NCL	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000115053		0.448	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1		0	20	0	G	NM_005381		232320317	-1			no_errors	ENST00000322723	ensembl	human	known	74_37	silent	8.33	22	2	SNP	1.000	A	A	232320317	G	A	232320317	2	1	171	1	0	0	0	0	0	0	0	1	10265	1281	45	3		3	NCL	2	232320317	Silent	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	23169828	232320317	10879056	35	43008											
AGAP1	116987	genome.wustl.edu	37	chr2	237032618	237032618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacacagctctggcctacgCccggcaggcctccagccagg	8	4	12	17	2	1	0	0	0	1	0	2	1	2	0	5	4	4	2	5	4	2	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:237032618C>T	ENST00000304032.8	+	18	3006	c.2426C>T	c.(2425-2427)gCc>gTc	p.A809V	AGAP1_ENST00000428334.2_Missense_Mutation_p.A648V|AGAP1_ENST00000336665.5_Missense_Mutation_p.A756V|AGAP1_ENST00000409538.1_Missense_Mutation_p.A1021V	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	809					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGGCCTACGCCCGGCAGGCC	0.637																																																	0													53	56	55					2																	237032618		2203	4300	6503	SO:0001583	missense	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.2426C>T	2.37:g.237032618C>T	ENSP00000307634:p.Ala809Val		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.A809V	ENST00000304032.8	37	c.2426	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.071514	0.93950	.	.	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	4.3	4.3	0.51218	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.85336	0.5673	M	0.85099	2.735	0.80722	D	1	P;D	0.89917	0.846;1.0	B;D	0.83275	0.391;0.996	D	0.87529	0.2451	10	0.51188	T	0.08	.	16.7702	0.85535	0.0:1.0:0.0:0.0	.	756;809	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	V	809;756;1021;648	ENSP00000307634:A809V;ENSP00000338378:A756V;ENSP00000386897:A1021V;ENSP00000411824:A648V	ENSP00000307634:A809V	A	+	2	0	AGAP1	236697357	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.591000	0.82666	1.950000	0.56595	0.655000	0.94253	GCC	AGAP1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000157985		0.637	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	-	0	140	0	C	NM_014914		237032618	1	tier1	-	no_errors	ENST00000304032	ensembl	human	known	74_37	missense	27.46	103	39	SNP	1.000	T	T	237032618	C	T	237032618	3	4	171	1	0	0	0	0	1	0	0	0	366	739	26	3	2496	3	AGAP1	2	237032618	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	4712301	237032618	6166755	36	43009											
OR6B2	389090	genome.wustl.edu	37	chr2	240968939	240968939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgacccaagcccaaggccTttttcaaggcgtccttaaat	10	12	7	12	1	1	1	1	1	0	0	2	1	2	1	4	2	1	0	4	2	5	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr2:240968939T>C	ENST00000402971.2	-	1	967	c.908A>G	c.(907-909)aAg>aGg	p.K303R		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	303						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)		GCCCAAGGCCTTTTTCAAGGC	0.418																																																	0													123	117	119					2																	240968939		1862	4101	5963	SO:0001583	missense	0				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.908A>G	2.37:g.240968939T>C	ENSP00000384563:p.Lys303Arg		B2RPR3|Q8NGW0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K303R	ENST00000402971.2	37	c.908	CCDS46559.1	2	.	.	.	.	.	.	.	.	.	.	T	8.529	0.870581	0.17322	.	.	ENSG00000182083	ENST00000402971	T	0.37915	1.17	4.24	-0.904	0.10530	.	0.672229	0.12875	N	0.431958	T	0.16599	0.0399	N	0.11560	0.145	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.26883	-1.0090	10	0.21540	T	0.41	.	7.9699	0.30122	0.0:0.4008:0.0:0.5992	.	303	Q6IFH4	OR6B2_HUMAN	R	303	ENSP00000384563:K303R	ENSP00000384563:K303R	K	-	2	0	OR6B2	240617612	0.004000	0.15560	0.002000	0.10522	0.300000	0.27592	0.055000	0.14229	-0.248000	0.09583	-0.353000	0.07706	AAG	OR6B2	-	NULL	ENSG00000182083		0.418	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B2	HGNC	protein_coding	OTTHUMT00000326079.1	-	0	61	0	T	NM_001005853		240968939	-1	tier1	-	no_errors	ENST00000402971	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.018	C	C	240968939	T	C	240968939	3	2	171	1	0	0	0	0	1	0	0	0	11227	1609	56	4	32	4	OR6B2	2	240968939	Missense_Mutation	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	3936321	240968939	2230434	37	43010											
TRNT1	51095	genome.wustl.edu	37	chr3	3179029	3179029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtaaagcctcaggatatAgattttgccaccactgctac	12	10	9	10	0	1	1	1	0	0	1	1	3	1	3	3	2	4	2	3	2	5	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr3:3179029A>G	ENST00000251607.6	+	3	336	c.234A>G	c.(232-234)atA>atG	p.I78M	TRNT1_ENST00000280591.6_Missense_Mutation_p.I78M	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	78					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)		CTCAGGATATAGATTTTGCCA	0.403																																																	0													91	90	91					3																	3179029		2203	4300	6503	SO:0001583	missense	0			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.234A>G	3.37:g.3179029A>G	ENSP00000251607:p.Ile78Met		A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Missense_Mutation	SNP	pfam_PolA_pol_head_dom	p.I78M	ENST00000251607.6	37	c.234	CCDS2561.2	3	.	.	.	.	.	.	.	.	.	.	A	16.34	3.094820	0.56075	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	T;T	0.21734	1.99;1.99	5.25	2.33	0.28932	Poly A polymerase, head domain (1);	0.055638	0.64402	D	0.000001	T	0.41050	0.1142	M	0.82716	2.605	0.80722	D	1	B;D	0.54772	0.035;0.968	B;D	0.66497	0.127;0.944	T	0.12915	-1.0529	10	0.59425	D	0.04	2.0383	5.0412	0.14460	0.0711:0.1175:0.4544:0.357	.	78;78	Q96Q11-2;Q96Q11	.;TRNT1_HUMAN	M	78	ENSP00000251607:I78M;ENSP00000280591:I78M	ENSP00000251607:I78M	I	+	3	3	TRNT1	3154029	1.000000	0.71417	0.998000	0.56505	0.626000	0.37791	1.283000	0.33237	0.158000	0.19367	-0.242000	0.12053	ATA	TRNT1	-	pfam_PolA_pol_head_dom	ENSG00000072756		0.403	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNT1	HGNC	protein_coding	OTTHUMT00000337616.1		0	68	0	A			3179029	1			no_errors	ENST00000251607	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.999	G	G	3179029	A	G	3179029	3	3	171	1	0	0	0	0	1	0	0	0	16621	410	15	4	240	4	TRNT1	3	3179029	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09		3179029	194843401	38	43011											
SRGAP3	9901	genome.wustl.edu	37	chr3	9100060	9100060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgcattctcaatgacatCcagcccttcgtggcgagagg	9	9	10	13	2	1	2	1	1	1	1	4	3	2	2	2	2	2	1	2	2	1	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr3:9100060C>A	ENST00000383836.3	-	7	1325	c.898G>T	c.(898-900)Gat>Tat	p.D300Y	SRGAP3_ENST00000360413.3_Missense_Mutation_p.D300Y|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	300	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)		TCAATGACATCCAGCCCTTCG	0.537			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													225	190	202					3																	9100060		2203	4300	6503	SO:0001583	missense	0			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.898G>T	3.37:g.9100060C>A	ENSP00000373347:p.Asp300Tyr		Q8IX13|Q8IZV8	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.D300Y	ENST00000383836.3	37	c.898	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900950	0.92035	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.16457	2.34;2.34	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.38001	-0.9681	10	0.72032	D	0.01	.	19.4226	0.94727	0.0:1.0:0.0:0.0	.	169;300;300	Q9ULR4;O43295-2;O43295	.;.;SRGP2_HUMAN	Y	300;300;180	ENSP00000373347:D300Y;ENSP00000353587:D300Y	ENSP00000353587:D300Y	D	-	1	0	SRGAP3	9075060	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.663000	0.83820	2.684000	0.91462	0.650000	0.86243	GAT	SRGAP3	-	NULL	ENSG00000196220		0.537	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3	-	0	64	0	C			9100060	-1	tier1	-	no_errors	ENST00000383836	ensembl	human	known	74_37	missense	38.57	43	27	SNP	1.000	A	A	9100060	C	A	9100060	3	1	171	1	0	0	0	0	1	0	0	0	15194	855	30	3	2500	3	SRGAP3	3	9100060	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	5921031	9100060	188922370	39	43012											
TOP2B	7155	genome.wustl.edu	37	chr3	25672379	25672379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttattcagctgagtctgagCcttaaatttcacccagttca	10	14	6	11	0	4	2	3	2	1	0	4	2	4	2	2	0	2	2	2	0	3	5			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr3:25672379C>T	ENST00000264331.4	-	11	1317	c.1318G>A	c.(1318-1320)Gct>Act	p.A440T	TOP2B_ENST00000435706.2_Missense_Mutation_p.A435T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	440					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)	TGAGTCTGAGCCTTAAATTTC	0.333																																																	0													130	117	121					3																	25672379		1843	4088	5931	SO:0001583	missense	0			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.1318G>A	3.37:g.25672379C>T	ENSP00000264331:p.Ala440Thr		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.A440T	ENST00000264331.4	37	c.1318		3	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335062	0.81801	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.54479	0.57;0.57	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.84433	2.695	0.80722	D	1	P	0.37398	0.593	B	0.34093	0.175	T	0.68131	-0.5490	10	0.59425	D	0.04	-7.1156	18.9987	0.92824	0.0:1.0:0.0:0.0	.	435	Q02880-2	.	T	435;440;435	ENSP00000396704:A435T;ENSP00000264331:A440T	ENSP00000264331:A440T	A	-	1	0	TOP2B	25647383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.501000	0.84356	0.555000	0.69702	GCT	TOP2B	-	pfam_Topo_IIA_bsu_dom2,smart_Topo_IIA	ENSG00000077097		0.333	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		-	0	42	0	C			25672379	-1	tier1	-	no_errors	ENST00000264331	ensembl	human	known	74_37	missense	52.94	24	27	SNP	1.000	T	T	25672379	C	T	25672379	3	4	171	1	0	0	0	0	1	0	0	0	16414	739	26	3	3666	3	TOP2B	3	25672379	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	16572319	25672379	172350051	40	43013											
PROS1	5627	genome.wustl.edu	37	chr3	93593094	93593094	+	Missense_Mutation	SNP	A	A	T	1	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	cagagaaaagatgccttaagAattctttgtctttttccaaa	14	14	6	7	0	2	3	0	0	2	3	3	4	3	3	2	0	1	0	2	0	5	5			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr3:93593094A>T	ENST00000394236.3	-	15	2342	c.2026T>A	c.(2026-2028)Tct>Act	p.S676T	PROS1_ENST00000407433.1_Missense_Mutation_p.S545T	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	676					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATGCCTTAAGAATTCTTTGTC	0.328																																																	0													92	88	89					3																	93593094		2203	4299	6502	SO:0001583	missense	0				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.2026T>A	3.37:g.93593094A>T	ENSP00000377783:p.Ser676Thr		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.S676T	ENST00000394236.3	37	c.2026	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	A	4.735	0.136733	0.09032	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.90069	-2.61;-2.08	4.61	0.777	0.18538	.	0.574898	0.16246	N	0.222923	T	0.71550	0.3353	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.56498	-0.7969	10	0.21540	T	0.41	.	4.0638	0.09851	0.5726:0.0:0.0927:0.3346	.	676	P07225	PROS_HUMAN	T	676;545	ENSP00000377783:S676T;ENSP00000385794:S545T	ENSP00000377783:S676T	S	-	1	0	PROS1	95075784	0.670000	0.27512	0.139000	0.22197	0.396000	0.30629	0.523000	0.22925	-0.018000	0.14079	0.454000	0.30748	TCT	PROS1	-	NULL	ENSG00000184500		0.328	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	-	0	80	0	A	NM_000313		93593094	-1	tier1	-	no_errors	ENST00000394236	ensembl	human	known	74_37	missense	16.79	109	22	SNP	0.065	T	T	93593094	A	T	93593094	3	4	171	1	0	0	0	0	1	0	0	0	12600	246	9	5	8	5	PROS1	3	93593094	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	67920715	93593094	104429336	41	43014											
OR5H2	79310	genome.wustl.edu	37	chr3	98002101	98002101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttttctcttggcaacaatgGcatatgatcgctatgtagcc	9	14	9	9	1	1	1	0	1	1	0	3	1	1	1	1	2	2	5	1	2	5	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr3:98002101G>A	ENST00000355273.2	+	1	370	c.370G>A	c.(370-372)Gca>Aca	p.A124T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	124						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						GGCAACAATGGCATATGATCG	0.378																																																	0													108	102	104					3																	98002101		2203	4300	6503	SO:0001583	missense	0				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.370G>A	3.37:g.98002101G>A	ENSP00000347418:p.Ala124Thr		Q6IF87	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A124T	ENST00000355273.2	37	c.370	CCDS33801.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026031	0.75390	.	.	ENSG00000197938	ENST00000355273	T	0.13307	2.6	3.2	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	U	0.001352	T	0.42017	0.1184	H	0.97051	3.93	0.34760	D	0.732656	D	0.58268	0.982	P	0.58454	0.839	T	0.62383	-0.6866	10	0.87932	D	0	.	8.3081	0.32055	0.1244:0.0:0.8756:0.0	.	124	Q8NGV7	OR5H2_HUMAN	T	124	ENSP00000347418:A124T	ENSP00000347418:A124T	A	+	1	0	OR5H2	99484791	1.000000	0.71417	0.032000	0.17829	0.939000	0.58152	4.921000	0.63397	0.679000	0.31345	0.543000	0.68304	GCA	OR5H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197938		0.378	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H2	HGNC	protein_coding	OTTHUMT00000359113.2	-	0	48	0	G			98002101	1	tier1	-	no_errors	ENST00000355273	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	98002101	G	A	98002101	3	1	171	1	0	0	0	0	1	0	0	0	11201	1203	42	3	372	3	OR5H2	3	98002101	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	4409007	98002101	100020329	42	43015											
HGD	3081	genome.wustl.edu	37	chr3	120365861	120365861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtacaagcatcttgcCaaactcggtgtaaatgagaa	13	9	11	8	1	1	1	0	1	1	1	2	2	1	1	1	2	4	4	1	2	6	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr3:120365861C>T	ENST00000283871.5	-	8	967	c.508G>A	c.(508-510)Ggc>Agc	p.G170S		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	170					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGCATCTTGCCAAACTCGGTG	0.463																																																	0													181	157	165					3																	120365861		2203	4296	6499	SO:0001583	missense	0				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.508G>A	3.37:g.120365861C>T	ENSP00000283871:p.Gly170Ser		A8K417|B2R8Z0	Missense_Mutation	SNP	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	p.G170S	ENST00000283871.5	37	c.508	CCDS3000.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.442776	0.96187	.	.	ENSG00000113924	ENST00000283871;ENST00000476082	D;D	0.99816	-6.91;-6.91	6.07	6.07	0.98685	Cupin, RmlC-type (1);	0.048871	0.85682	D	0.000000	D	0.99880	0.9943	H	0.94462	3.54	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.96887	0.9650	10	0.87932	D	0	-8.9247	18.1532	0.89682	0.0:1.0:0.0:0.0	.	170	Q93099	HGD_HUMAN	S	170;129	ENSP00000283871:G170S;ENSP00000419560:G129S	ENSP00000283871:G170S	G	-	1	0	HGD	121848551	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.022000	0.76431	2.885000	0.99019	0.655000	0.94253	GGC	HGD	-	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	ENSG00000113924		0.463	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGD	HGNC	protein_coding	OTTHUMT00000355410.1	-	0	38	0	C			120365861	-1	tier1	-	no_errors	ENST00000283871	ensembl	human	known	74_37	missense	26.32	56	20	SNP	1.000	T	T	120365861	C	T	120365861	3	4	171	1	0	0	0	0	1	0	0	0	7111	594	21	3	857	3	HGD	3	120365861	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	22363760	120365861	77656569	43	43016											
NUDT16	131870	genome.wustl.edu	37	chr3	131102146	131102146	+	Silent	SNP	T	T	C	0	1	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	gacttgggactgctgcagtcTggctctatttcaggccttaa	7	13	11	10	0	3	0	1	0	2	0	3	2	3	1	1	3	2	3	1	3	2	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr3:131102146T>C	ENST00000521288.1	+	3	580	c.549T>C	c.(547-549)tcT>tcC	p.S183S	NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000359850.3_Silent_p.S150S|RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000537561.1_Intron			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	183					adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						TGCTGCAGTCTGGCTCTATTT	0.537																																																	0													87	77	80					3																	131102146		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"Nudix motif containing"	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.549T>C	3.37:g.131102146T>C			B4E3B4|E9PED4|F5GYJ1|Q96N82	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.S183	ENST00000521288.1	37	c.549	CCDS3070.2	3																																																																																			NUDT16	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000198585		0.537	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT16	HGNC	protein_coding	OTTHUMT00000356537.9	-	0	40	0	T	NM_152395		131102146	1	tier1	-	no_errors	ENST00000521288	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.378	C	C	131102146	T	C	131102146	2	2	171	1	0	0	0	0	0	0	0	1	10771	1567	55	4		4	NUDT16	3	131102146	Silent	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	10736285	131102146	66920284	44	43017											
TRPC1	7220	genome.wustl.edu	37	chr3	142511809	142511809	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctatcttgggtccattacaGgtaaataattaaaatttctt	13	17	5	6	0	3	0	0	0	3	0	4	0	4	0	1	2	1	1	1	2	7	8			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr3:142511809G>A	ENST00000476941.1	+	9	2067	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	TRPC1_ENST00000273482.6_Splice_Site_p.Q493Q	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	527					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						GTCCATTACAGGTAAATAATT	0.333																																																	0													73	70	71					3																	142511809		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1581+1G>A	3.37:g.142511809G>A			Q14CE4	Silent	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.Q527	ENST00000476941.1	37	c.1581	CCDS58856.1	3																																																																																			TRPC1	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000144935		0.333	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	-	0	41	0	G	NM_003304	Silent	142511809	1	tier1	-	no_errors	ENST00000476941	ensembl	human	known	74_37	silent	42.47	42	31	SNP	1.000	A	A	142511809	G	A	142511809	5	1	171	1	0	0	0	0	0	0	1	0	16626	1014	35	3	1509	3	TRPC1	3	142511809	Splice_Site	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	11409663	142511809	55510621	45	43018											
MASP1	5648	genome.wustl.edu	37	chr3	186953887	186953887	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattggagatgccccagccgGccaccaggcccagcatgtgg	8	5	14	14	1	0	1	0	0	0	1	0	3	0	1	6	4	3	1	6	4	0	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr3:186953887G>T	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Missense_Mutation_p.A478D|MASP1_ENST00000296280.6_Missense_Mutation_p.A591D|MASP1_ENST00000495249.1_5'UTR	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCCCCAGCCGGCCACCAGGCC	0.617																																																	0													58	61	60					3																	186953887		2203	4300	6503	SO:0001627	intron_variant	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5381C>A	3.37:g.186953887G>T			A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.A591D	ENST00000337774.5	37	c.1772	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039351	0.93630	.	.	ENSG00000127241	ENST00000296280;ENST00000392472	D;D	0.93906	-3.31;-3.31	6.17	6.17	0.99709	.	0.309199	0.38897	N	0.001538	D	0.96710	0.8926	M	0.79926	2.475	0.80722	D	1	D;D	0.59767	0.975;0.986	P;D	0.63957	0.837;0.92	D	0.96476	0.9352	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	478;591	P48740-4;P48740-2	.;.	D	591;478	ENSP00000296280:A591D;ENSP00000376264:A478D	ENSP00000296280:A591D	A	-	2	0	MASP1	188436581	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	6.731000	0.74785	2.941000	0.99782	0.655000	0.94253	GCC	MASP1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000127241		0.617	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	-	0	21	0	G	NM_001879		186953887	-1	tier1	-	no_errors	ENST00000296280	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	T	T	186953887	G	T	186953887	1	4	171	0	1	0	0	0	0	0	0	0	9360	1203	42	3		3	MASP1	3	186953887	Intron	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	44442078	186953887	11068543	46	43019											
RASL11B	65997	genome.wustl.edu	37	chr4	53729447	53729447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcagcactggtggtccGgttcctcaccaaacgattca	9	9	10	13	3	2	0	2	0	0	0	4	1	4	0	3	3	3	3	3	3	1	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr4:53729447G>A	ENST00000248706.3	+	2	373	c.155G>A	c.(154-156)cGg>cAg	p.R52Q		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)			CTGGTGGTCCGGTTCCTCACC	0.483																																																	0													126	103	111					4																	53729447		2203	4300	6503	SO:0001583	missense	0			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.155G>A	4.37:g.53729447G>A	ENSP00000248706:p.Arg52Gln			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R52Q	ENST00000248706.3	37	c.155	CCDS3490.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.176778	0.97348	.	.	ENSG00000128045	ENST00000248706	D	0.81739	-1.53	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83718	0.5315	L	0.41415	1.275	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77094	-0.2715	10	0.02654	T	1	.	18.3899	0.90479	0.0:0.0:1.0:0.0	.	52	Q9BPW5	RSLBB_HUMAN	Q	52	ENSP00000248706:R52Q	ENSP00000248706:R52Q	R	+	2	0	RASL11B	53424204	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	9.403000	0.97302	2.571000	0.86741	0.655000	0.94253	CGG	RASL11B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000128045		0.483	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL11B	HGNC	protein_coding	OTTHUMT00000219931.2	-	0	69	0	G	NM_023940		53729447	1	tier1	-	no_errors	ENST00000248706	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.998	A	A	53729447	G	A	53729447	3	1	171	1	0	0	0	0	1	0	0	0	13127	1116	39	1	161	1	RASL11B	4	53729447	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09		53729447	137424829	47	43020											
UTP3	57050	genome.wustl.edu	37	chr4	71554761	71554761	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	aaagtgaagctgaggcctctGtggatcccagtttgtcgtgg	8	11	14	8	1	1	2	0	2	1	0	3	3	2	3	2	3	1	2	2	3	2	1	rs139549167		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr4:71554761G>A	ENST00000254803.2	+	1	566	c.367G>A	c.(367-369)Gtg>Atg	p.V123M		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	123	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V123M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGAGGCCTCTGTGGATCCCAG	0.562																																																	1	Substitution - Missense(1)	lung(1)											76	72	73					4																	71554761		2203	4300	6503	SO:0001583	missense	0			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.367G>A	4.37:g.71554761G>A	ENSP00000254803:p.Val123Met		Q6FI82	Missense_Mutation	SNP	pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D	p.V123M	ENST00000254803.2	37	c.367	CCDS3546.1	4	.	.	.	.	.	.	.	.	.	.	g	7.175	0.588414	0.13812	.	.	ENSG00000132467	ENST00000254803	T	0.29917	1.55	5.34	3.59	0.41128	.	0.560078	0.18387	N	0.142789	T	0.25005	0.0607	L	0.44542	1.39	0.09310	N	1	B	0.33448	0.412	B	0.31614	0.133	T	0.11155	-1.0599	10	0.49607	T	0.09	-13.1546	9.568	0.39411	0.073:0.2672:0.6598:0.0	.	123	Q9NQZ2	SAS10_HUMAN	M	123	ENSP00000254803:V123M	ENSP00000254803:V123M	V	+	1	0	UTP3	71773625	0.049000	0.20398	0.898000	0.35279	0.380000	0.30137	1.502000	0.35704	0.601000	0.29879	-0.177000	0.13119	GTG	UTP3	-	NULL	ENSG00000132467		0.562	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP3	HGNC	protein_coding	OTTHUMT00000252163.2	-	0	35	0	G	NM_020368		71554761	1	tier1	-	no_errors	ENST00000254803	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.003	A	A	71554761	G	A	71554761	3	1	171	1	0	0	0	0	1	0	0	0	17150	1377	48	3	369	3	UTP3	4	71554761	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	17825314	71554761	119599515	48	43021											
FRAS1	80144	genome.wustl.edu	37	chr4	79460559	79460559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagtaacatgccaggtgtgGatggatttactctaaaagta	13	12	10	6	0	2	0	1	0	1	0	2	2	2	2	1	3	3	2	1	3	5	5			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr4:79460559G>A	ENST00000264895.6	+	73	11850	c.11410G>A	c.(11410-11412)Gat>Aat	p.D3804N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3800					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						GCCAGGTGTGGATGGATTTAC	0.403																																																	0													163	161	162					4																	79460559		1912	4124	6036	SO:0001583	missense	0			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.11410G>A	4.37:g.79460559G>A	ENSP00000264895:p.Asp3804Asn		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.D3804N	ENST00000264895.6	37	c.11410	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.368514|5.368514	0.95900|0.95900	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.67171|.	-0.25|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82912|0.82912	0.5140|0.5140	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.82847|0.82847	-0.0255|-0.0255	10|5	0.87932|.	D|.	0|.	.|.	20.2191|20.2191	0.98319|0.98319	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3804|.	E9PHH6|.	.|.	N|E	3804|2032	ENSP00000264895:D3804N|.	ENSP00000264895:D3804N|.	D|G	+|+	1|2	0|0	FRAS1|FRAS1	79679583|79679583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.753000|0.753000	0.42808|0.42808	9.662000|9.662000	0.98603|0.98603	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	GAT|GGA	FRAS1	-	NULL	ENSG00000138759		0.403	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		-	0	33	0	G			79460559	1	tier1	-	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	45.83	13	11	SNP	1.000	A	A	79460559	G	A	79460559	3	1	171	1	0	0	0	0	1	0	0	0	6066	1174	41	3	11775	3	FRAS1	4	79460559	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	7905798	79460559	111693717	49	43022											
ABCG2	9429	genome.wustl.edu	37	chr4	89061143	89061143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacttcgacattactggaaGacatctggagagtttttatc	13	13	8	7	1	1	2	0	0	1	2	3	5	1	3	0	2	2	1	0	2	4	5			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr4:89061143G>A	ENST00000237612.3	-	2	550	c.5C>T	c.(4-6)tCt>tTt	p.S2F	ABCG2_ENST00000515655.1_Missense_Mutation_p.S2F	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	2					cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	ATTACTGGAAGACATCTGGAG	0.403																																																	0													46	45	45					4																	89061143		2203	4300	6503	SO:0001583	missense	0			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.5C>T	4.37:g.89061143G>A	ENSP00000237612:p.Ser2Phe		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S2F	ENST00000237612.3	37	c.5	CCDS3628.1	4	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043478	0.55003	.	.	ENSG00000118777	ENST00000515655;ENST00000237612;ENST00000505480;ENST00000503830	D;D;T;T	0.87256	-2.23;-2.09;-0.34;-0.41	5.59	3.83	0.44106	.	0.521688	0.21331	N	0.076288	D	0.87943	0.6305	L	0.34521	1.04	0.32026	N	0.600134	D;D	0.76494	0.999;0.978	D;P	0.69824	0.966;0.736	D	0.87038	0.2139	10	0.87932	D	0	-7.9137	7.947	0.29993	0.0818:0.0:0.7588:0.1594	.	2;2	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	F	2;2;40;20	ENSP00000426917:S2F;ENSP00000237612:S2F;ENSP00000426916:S40F;ENSP00000426934:S20F	ENSP00000237612:S2F	S	-	2	0	ABCG2	89280167	0.998000	0.40836	0.983000	0.44433	0.504000	0.33889	2.677000	0.46892	0.690000	0.31570	0.650000	0.86243	TCT	ABCG2	-	NULL	ENSG00000118777		0.403	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1		0	30	0	G	NM_004827		89061143	-1			no_errors	ENST00000237612	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.973	A	A	89061143	G	A	89061143	3	1	171	1	0	0	0	0	1	0	0	0	69	942	33	3	2022	3	ABCG2	4	89061143	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	9600584	89061143	102093133	50	43023											
TIGD2	166815	genome.wustl.edu	37	chr4	90034819	90034819	+	Frame_Shift_Del	DEL	A	A	-																															tttgtgttgtggggaaggccAaaaagccccgagcattcaaa																										TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr4:90034819delA	ENST00000317005.2	+	1	852	c.694delA	c.(694-696)aaafs	p.K233fs	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	233	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GGGGAAGGCCAAAAAGCCCCG	0.433																																																	0													64	65	65					4																	90034819		2203	4300	6503	SO:0001589	frameshift_variant	0			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.694delA	4.37:g.90034819delA	ENSP00000317170:p.Lys233fs			Frame_Shift_Del	DEL	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.K233fs	ENST00000317005.2	37	c.694	CCDS3633.1	4																																																																																			TIGD2	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000180346		0.433	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD2	HGNC	protein_coding	OTTHUMT00000253545.2		0	43	0	A	NM_145715		90034819	1	tier1		no_errors	ENST00000317005	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.931	-	-	90034819	A	-	90034819	7	5	171	1	0	1	0	1	0	0	0	0	15943	131	5	0	696	0	TIGD2	4	90034819	Frame_Shift_Del	DEL	A	TCGA-VR-A8Q7-01A-11D-A37C-09	973676	90034819	101119457	51	43024											
CCDC109B	55013	genome.wustl.edu	37	chr4	110606473	110606473	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacaagaaatcaaagcaaCagcactttgatgtgcagcaa	17	7	7	10	0	1	2	1	1	0	1	2	2	2	2	1	0	5	4	1	0	5	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr4:110606473C>G	ENST00000394650.4	+	7	1016	c.883C>G	c.(883-885)Cag>Gag	p.Q295E		NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	295					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		ATCAAAGCAACAGCACTTTGA	0.348																																																	0													96	99	98					4																	110606473		2203	4300	6503	SO:0001583	missense	0			BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.883C>G	4.37:g.110606473C>G	ENSP00000378145:p.Gln295Glu		A8K4Y3|Q6IAC1	Missense_Mutation	SNP	pfam_Coiled-coil-dom_prot_109_C	p.Q295E	ENST00000394650.4	37	c.883	CCDS3683.2	4	.	.	.	.	.	.	.	.	.	.	C	0.104	-1.148440	0.01714	.	.	ENSG00000005059	ENST00000394650	T	0.29142	1.58	5.28	2.1	0.27182	Coiled-coil domain containing protein 109, C-terminal (1);	0.451358	0.25047	N	0.033558	T	0.24661	0.0598	M	0.66939	2.045	0.09310	N	1	B	0.12013	0.005	B	0.17979	0.02	T	0.31888	-0.9927	10	0.08837	T	0.75	-8.6126	6.1024	0.20055	0.2376:0.5684:0.1224:0.0717	.	295	Q9NWR8	C109B_HUMAN	E	295	ENSP00000378145:Q295E	ENSP00000378145:Q295E	Q	+	1	0	CCDC109B	110825922	0.001000	0.12720	0.006000	0.13384	0.981000	0.71138	1.017000	0.29989	0.528000	0.28580	0.591000	0.81541	CAG	CCDC109B	-	pfam_Coiled-coil-dom_prot_109_C	ENSG00000005059		0.348	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC109B	HGNC	protein_coding	OTTHUMT00000254865.1	-	0	49	0	C	NM_017918		110606473	1	tier1	-	no_errors	ENST00000394650	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.000	G	G	110606473	C	G	110606473	3	3	171	1	0	0	0	0	1	0	0	0	2752	479	17	5	909	5	CCDC109B	4	110606473	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	20571654	110606473	80547803	52	43025											
POU4F2	5458	genome.wustl.edu	37	chr4	147561259	147561261	+	In_Frame_Del	DEL	CAC	CAC	-																															cgcaccaccaccaccaccatCaccaccaccaccaccaccaa																										TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	CAC	CAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr4:147561259_147561261delCAC	ENST00000281321.3	+	2	777_779	c.529_531delCAC	c.(529-531)cacdel	p.H182del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	182	Poly-His.			Missing (in Ref. 6; CAA50589). {ECO:0000305}.	axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ccaccaccatcaccaccaccacc	0.69																																																	0																																										SO:0001651	inframe_deletion	0			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.529_531delCAC	4.37:g.147561268_147561270delCAC	ENSP00000281321:p.His182del		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.H180in_frame_del	ENST00000281321.3	37	c.529_531	CCDS34074.1	4																																																																																			POU4F2	-	NULL	ENSG00000151615		0.69	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1		0	52	0	CAC	NM_004575		147561261	1	tier1		no_errors	ENST00000281321	ensembl	human	known	74_37	in_frame_del	6.45	29	2	DEL	1.000:1.000:0.999	-	-	147561261	CAC	-	147561259	7	5	171	1	0	1	0	1	0	0	0	0	12318	826	29	0	535	0	POU4F2	4	147561259	In_Frame_Del	DEL	CAC	TCGA-VR-A8Q7-01A-11D-A37C-09	36954786	147561259	43593017	53	43026											
GRIA2	2891	genome.wustl.edu	37	chr4	158254480	158254480	+	Missense_Mutation	SNP	A	A	C	1	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	ctatacaattaacatcatggAgctcaaaactaatgggcccc	15	9	6	11	0	2	0	2	0	0	0	2	1	2	1	2	2	4	1	2	2	7	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr4:158254480A>C	ENST00000264426.9	+	8	1409	c.1130A>C	c.(1129-1131)gAg>gCg	p.E377A	GRIA2_ENST00000449365.1_Missense_Mutation_p.E330A|GRIA2_ENST00000296526.7_Missense_Mutation_p.E377A|GRIA2_ENST00000393815.2_Missense_Mutation_p.E330A|GRIA2_ENST00000507898.1_Missense_Mutation_p.E330A	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	377					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)	p.E377V(1)		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)	AACATCATGGAGCTCAAAACT	0.398																																																	1	Substitution - Missense(1)	ovary(1)											42	45	44					4																	158254480		2200	4294	6494	SO:0001583	missense	0				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.1130A>C	4.37:g.158254480A>C	ENSP00000264426:p.Glu377Ala		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E377A	ENST00000264426.9	37	c.1130	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736305	0.69189	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.42	5.42	0.78866	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90903	0.7141	M	0.78049	2.395	0.80722	D	1	P;D;D	0.89917	0.754;1.0;0.997	P;D;D	0.91635	0.53;0.999;0.995	D	0.92025	0.5629	10	0.72032	D	0.01	.	15.4581	0.75330	1.0:0.0:0.0:0.0	.	377;377;330	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	A	330;330;377;377;330	ENSP00000426845:E330A;ENSP00000377403:E330A;ENSP00000296526:E377A;ENSP00000264426:E377A;ENSP00000389837:E330A	ENSP00000264426:E377A	E	+	2	0	GRIA2	158473930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.049000	0.60858	0.528000	0.53228	GAG	GRIA2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000120251		0.398	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	-	0	98	0	A			158254480	1	tier1	-	no_errors	ENST00000264426	ensembl	human	known	74_37	missense	37.33	47	28	SNP	1.000	C	C	158254480	A	C	158254480	3	2	171	1	0	0	0	0	1	0	0	0	6795	304	11	4	1160	4	GRIA2	4	158254480	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	10693221	158254480	32899796	54	43027											
RAPGEF2	9693	genome.wustl.edu	37	chr4	160189325	160189325	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attatgaaaccactagcaatCccagctaaccatggagttat	15	10	6	10	0	0	1	0	1	0	0	1	2	1	2	3	1	4	3	3	1	6	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr4:160189325C>A	ENST00000264431.4	+	1	437	c.18C>A	c.(16-18)atC>atA	p.I6I	RAPGEF2_ENST00000504604.1_Intron	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	6					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CACTAGCAATCCCAGCTAACC	0.413																																																	0													127	120	122					4																	160189325		1941	4138	6079	SO:0001819	synonymous_variant	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.18C>A	4.37:g.160189325C>A			D3DP27	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.I6	ENST00000264431.4	37	c.18	CCDS43277.1	4																																																																																			RAPGEF2	-	NULL	ENSG00000109756		0.413	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	-	0	49	0	C	NM_014247		160189325	1	tier1	-	no_errors	ENST00000264431	ensembl	human	known	74_37	silent	7.35	63	5	SNP	0.999	A	A	160189325	C	A	160189325	2	1	171	1	0	0	0	0	0	0	0	1	13089	845	30	3		3	RAPGEF2	4	160189325	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	1934845	160189325	30964951	55	43028											
CCDC110	256309	genome.wustl.edu	37	chr4	186380437	186380437	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatctgcacagattcttttAggtaattctgtaagtactga	11	16	8	6	0	3	2	0	1	3	1	3	2	3	2	0	1	2	5	0	1	5	8			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr4:186380437A>T	ENST00000307588.3	-	6	1379	c.1304T>A	c.(1303-1305)cTa>cAa	p.L435Q	CCDC110_ENST00000510617.1_Missense_Mutation_p.L435Q|CCDC110_ENST00000393540.3_Missense_Mutation_p.L398Q|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	435						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AGATTCTTTTAGGTAATTCTG	0.323																																																	0													91	95	94					4																	186380437		2203	4297	6500	SO:0001583	missense	0			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1304T>A	4.37:g.186380437A>T	ENSP00000306776:p.Leu435Gln		Q86YI9|Q8N7W0	Missense_Mutation	SNP	superfamily_4_helix_cytokine-like_core	p.L435Q	ENST00000307588.3	37	c.1304	CCDS3843.1	4	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637839	0.47049	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.12984	2.63;2.64;2.64	5.81	5.81	0.92471	.	0.000000	0.45606	D	0.000353	T	0.32315	0.0825	M	0.66939	2.045	0.26948	N	0.966107	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.20140	-1.0284	10	0.25751	T	0.34	-9.0474	11.3095	0.49356	0.8483:0.1517:0.0:0.0	.	435;398;435	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	Q	398;435;435	ENSP00000377172:L398Q;ENSP00000306776:L435Q;ENSP00000427246:L435Q	ENSP00000306776:L435Q	L	-	2	0	CCDC110	186617431	0.806000	0.28996	0.963000	0.40424	0.933000	0.57130	2.020000	0.41010	2.224000	0.72417	0.533000	0.62120	CTA	CCDC110	-	NULL	ENSG00000168491		0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC110	HGNC	protein_coding	OTTHUMT00000360519.2		0	29	0	A	NM_152775		186380437	-1			no_errors	ENST00000307588	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.825	T	T	186380437	A	T	186380437	3	4	171	1	0	0	0	0	1	0	0	0	2754	420	15	5	1205	5	CCDC110	4	186380437	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	26191112	186380437	4773839	56	43029											
DNAH5	1767	genome.wustl.edu	37	chr5	13870950	13870950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagcgctgccattgcaatccGaatatcatctaggtccttaa	11	11	7	12	2	2	0	1	0	1	0	4	1	4	0	3	1	3	2	3	1	5	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:13870950G>C	ENST00000265104.4	-	24	3864	c.3760C>G	c.(3760-3762)Cgg>Ggg	p.R1254G	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1254	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTGCAATCCGAATATCATCT	0.348									Kartagener syndrome																																								0													91	90	90					5																	13870950		2203	4300	6503	SO:0001583	missense	0	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.3760C>G	5.37:g.13870950G>C	ENSP00000265104:p.Arg1254Gly		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1254G	ENST00000265104.4	37	c.3760	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828754	0.32329	.	.	ENSG00000039139	ENST00000265104	T	0.24908	1.83	5.58	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	M	0.83774	2.66	0.58432	D	0.999997	P	0.38729	0.644	P	0.53490	0.727	T	0.31336	-0.9947	10	0.49607	T	0.09	.	7.6764	0.28488	0.0847:0.0:0.3888:0.5265	.	1254	Q8TE73	DYH5_HUMAN	G	1254	ENSP00000265104:R1254G	ENSP00000265104:R1254G	R	-	1	2	DNAH5	13923950	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	3.879000	0.56138	0.700000	0.31782	-0.126000	0.14955	CGG	DNAH5	-	NULL	ENSG00000039139		0.348	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	75	0	G	NM_001369		13870950	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	21.92	114	32	SNP	1.000	C	C	13870950	G	C	13870950	3	2	171	1	0	0	0	0	1	0	0	0	4618	1057	37	5	10338	5	DNAH5	5	13870950	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09		13870950	167044310	57	43030											
RNASEN	29102	genome.wustl.edu	37	chr5	31424578	31424578	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagccagacttcgcgcaggtCctggaaaatggagtgatgcc	10	7	14	10	2	0	2	0	1	0	1	2	5	1	4	3	3	2	1	3	3	2	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:31424578C>G	ENST00000511367.2	-	27	3461	c.3217G>C	c.(3217-3219)Gac>Cac	p.D1073H	DROSHA_ENST00000513349.1_Splice_Site_p.D1036H|DROSHA_ENST00000344624.3_Splice_Site_p.D1073H|DROSHA_ENST00000442743.1_Splice_Site_p.D1036H	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1073	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				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						TCGCGCAGGTCCTGGAAAATG	0.423																																																	0													100	101	100					5																	31424578		1936	4146	6082	SO:0001630	splice_region_variant	0			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.3217-1G>C	5.37:g.31424578C>G			E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.D1073H	ENST00000511367.2	37	c.3217	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028564	0.54790	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.41	5.41	0.78517	Ribonuclease III (2);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	L	0.52573	1.65	0.80722	D	1	D;P	0.54397	0.966;0.894	P;P	0.46718	0.525;0.465	D	0.88723	0.3231	10	0.72032	D	0.01	-23.5921	17.7429	0.88412	0.0:1.0:0.0:0.0	.	1036;1073	E7EMP9;Q9NRR4	.;RNC_HUMAN	H	1073;1073;1036;1036;998;1029	ENSP00000425979:D1073H;ENSP00000339845:D1073H;ENSP00000409335:D1036H;ENSP00000424161:D1036H	ENSP00000265075:D998H	D	-	1	0	DROSHA	31460335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.874000	0.63064	2.691000	0.91804	0.650000	0.86243	GAC	DROSHA	-	superfamily_RNase_III_dom,smart_RNase_III_dom	ENSG00000113360		0.423	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	-	0	47	0	C	NM_013235	Missense_Mutation	31424578	-1	tier1	-	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	8.74	94	9	SNP	1.000	G	G	31424578	C	G	31424578	5	3	171	1	0	0	0	0	0	0	1	0	13462	869	30	5	943	5	RNASEN	5	31424578	Splice_Site	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	17553628	31424578	149490682	58	43031											
LIFR	3977	genome.wustl.edu	37	chr5	38490352	38490352	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatccttgatttctgcatcCatacaggaaaaaattatatc	15	14	4	8	0	1	1	0	1	1	0	4	2	3	2	2	1	2	1	2	1	7	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:38490352C>A	ENST00000263409.4	-	15	2269	c.2107G>T	c.(2107-2109)Gga>Tga	p.G703*	LIFR_ENST00000453190.2_Nonsense_Mutation_p.G703*|LIFR_ENST00000503088.1_5'Flank	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	703	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTTCTGCATCCATACAGGAAA	0.294			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													97	107	104					5																	38490352		2202	4296	6498	SO:0001587	stop_gained	0			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.2107G>T	5.37:g.38490352C>A	ENSP00000263409:p.Gly703*		Q6LCD9	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G703*	ENST00000263409.4	37	c.2107	CCDS3927.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.899966	0.98551	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	.	.	.	6.05	6.05	0.98169	.	0.262972	0.45126	D	0.000393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-14.1781	15.3331	0.74229	0.1397:0.8603:0.0:0.0	.	.	.	.	X	703	.	ENSP00000263409:G703X	G	-	1	0	LIFR	38526109	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.869000	0.63028	2.878000	0.98634	0.650000	0.86243	GGA	LIFR	-	superfamily_Fibronectin_type3	ENSG00000113594		0.294	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	-	0	89	0	C	NM_002310		38490352	-1	tier1	-	no_errors	ENST00000263409	ensembl	human	known	74_37	nonsense	9.49	143	15	SNP	1.000	A	A	38490352	C	A	38490352	4	1	171	1	0	0	0	0	0	1	0	0	8809	603	21	3	1210	3	LIFR	5	38490352	Nonsense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	7065774	38490352	142424908	59	43032											
RAD17	5884	genome.wustl.edu	37	chr5	68692375	68692376	+	Splice_Site	INS	-	-	A																															tttctaataaataaaaaggtINSaaaaaaaaaaaaaaaaattc																								rs377737971|rs34097088|rs75928221		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:68692375_68692376insA	ENST00000509734.1	+	15	2283		c.e15+2		RAD17_ENST00000521422.1_Splice_Site|RAD17_ENST00000354312.3_Splice_Site|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Splice_Site|RAD17_ENST00000305138.4_Splice_Site|RAD17_ENST00000361732.2_Splice_Site|RAD17_ENST00000282891.6_Splice_Site|RAD17_ENST00000380774.3_Splice_Site|RAD17_ENST00000358030.2_Splice_Site|RAD17_ENST00000345306.6_Splice_Site			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)						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)		AATAAAAAGGTAAAAAAAAAAA	0.322								Other conserved DNA damage response genes																																									0																																										SO:0001630	splice_region_variant	0			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.1605+2->A	5.37:g.68692386_68692386dupA			A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Splice_Site	INS	-	e13+2	ENST00000509734.1	37	c.1605+2_1605+1	CCDS4003.1	5																																																																																			RAD17	-	-	ENSG00000152942		0.322	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RAD17	HGNC	protein_coding	OTTHUMT00000369171.1		0	17	0	-	NM_133344	Intron	68692376	1	tier1		no_errors	ENST00000380774	ensembl	human	known	74_37	splice_site_ins	23.81	16	5	INS	1.000:0.992	A	A	68692376	-	A	68692375	8	5	171	1	0	1	1	0	0	0	1	0	13024	1652	57	0	1670	0	RAD17	5	68692375	Splice_Site	INS	-	TCGA-VR-A8Q7-01A-11D-A37C-09	30202023	68692375	112222885	60	43033											
CMYA5	202333	genome.wustl.edu	37	chr5	79030465	79030465	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatctcatttgtcatcacaAgaagcagtatctgctcttga	12	13	7	9	0	5	2	3	1	3	1	6	3	5	2	0	0	2	3	0	0	4	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:79030465A>G	ENST00000446378.2	+	2	5908	c.5877A>G	c.(5875-5877)caA>caG	p.Q1959Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1959					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)		TGTCATCACAAGAAGCAGTAT	0.443																																																	0													72	70	71					5																	79030465		1911	4127	6038	SO:0001819	synonymous_variant	0			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.5877A>G	5.37:g.79030465A>G			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.Q1959	ENST00000446378.2	37	c.5877	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.443	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	23	0	A	NM_153610		79030465	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	silent	35.71	18	10	SNP	0.031	G	G	79030465	A	G	79030465	2	3	171	1	0	0	0	0	0	0	0	1	3597	69	3	4		4	CMYA5	5	79030465	Silent	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	10338090	79030465	101884795	61	43034											
APC	324	genome.wustl.edu	37	chr5	112175259	112175259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagatcctgtgagcgaagTtccagcagtgtcacagcacc	11	8	11	11	1	1	3	1	2	0	1	3	4	3	3	3	0	3	3	3	0	2	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:112175259T>A	ENST00000457016.1	+	16	4348	c.3968T>A	c.(3967-3969)gTt>gAt	p.V1323D	APC_ENST00000257430.4_Missense_Mutation_p.V1323D|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.V1323D			P25054	APC_HUMAN	adenomatous polyposis coli	1323	Responsible for down-regulation through a process mediated by direct ubiquitination.|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.P1324fs*8(3)|p.V1320fs*8(1)|p.K1192fs*3(1)|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)		GTGAGCGAAGTTCCAGCAGTG	0.438		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"	6	Insertion - Frameshift(3)|Deletion - Frameshift(2)|Unknown(1)	large_intestine(4)|soft_tissue(1)|skin(1)											61	63	62					5																	112175259		2202	4300	6502	SO:0001583	missense	0	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.3968T>A	5.37:g.112175259T>A	ENSP00000413133:p.Val1323Asp		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.V1323D	ENST00000457016.1	37	c.3968	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	T	8.957	0.969531	0.18659	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89875	-2.58;-2.58;-2.58	6.03	4.86	0.63082	.	0.378758	0.29028	N	0.013365	T	0.79913	0.4528	L	0.27053	0.805	0.54753	D	0.99998	B;B	0.18166	0.026;0.026	B;B	0.20184	0.028;0.028	T	0.70539	-0.4844	9	.	.	.	-10.1462	7.5712	0.27909	0.0:0.2428:0.0:0.7572	.	1325;1323	Q4LE70;P25054	.;APC_HUMAN	D	1323	ENSP00000413133:V1323D;ENSP00000257430:V1323D;ENSP00000427089:V1323D	.	V	+	2	0	APC	112203158	0.961000	0.32948	1.000000	0.80357	0.531000	0.34715	1.596000	0.36718	1.090000	0.41315	0.533000	0.62120	GTT	APC	-	NULL	ENSG00000134982		0.438	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	39	0	T	NM_000038		112175259	1			no_errors	ENST00000257430	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.995	A	A	112175259	T	A	112175259	3	1	171	1	0	0	0	0	1	0	0	0	763	1725	60	5	4026	5	APC	5	112175259	Missense_Mutation	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	33144794	112175259	68740001	62	43035											
APC	324	genome.wustl.edu	37	chr5	112175285	112175285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtgtcacagcaccctagaAccaaatccagcagactgcag	14	5	8	14	0	1	2	1	0	0	2	2	2	2	2	3	0	4	3	3	0	3	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:112175285A>G	ENST00000457016.1	+	16	4374	c.3994A>G	c.(3994-3996)Acc>Gcc	p.T1332A	APC_ENST00000257430.4_Missense_Mutation_p.T1332A|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.T1332A			P25054	APC_HUMAN	adenomatous polyposis coli	1332	Responsible for down-regulation through a process mediated by direct ubiquitination.|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.T1332fs*83(1)|p.K1192fs*3(1)|p.?(1)|p.V1326fs*3(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)		GCACCCTAGAACCAAATCCAG	0.448		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"	4	Deletion - Frameshift(3)|Unknown(1)	large_intestine(2)|soft_tissue(1)|skin(1)											58	61	60					5																	112175285		2202	4300	6502	SO:0001583	missense	0	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.3994A>G	5.37:g.112175285A>G	ENSP00000413133:p.Thr1332Ala		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.T1332A	ENST00000457016.1	37	c.3994	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	A	7.219	0.597056	0.13875	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89343	-2.5;-2.5;-2.5	6.03	3.58	0.41010	.	0.417423	0.28442	N	0.015333	T	0.78880	0.4353	N	0.19112	0.55	0.28264	N	0.924711	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.63603	-0.6600	9	.	.	.	-1.4958	10.3327	0.43831	0.8647:0.0:0.1353:0.0	.	1334;1332	Q4LE70;P25054	.;APC_HUMAN	A	1332	ENSP00000413133:T1332A;ENSP00000257430:T1332A;ENSP00000427089:T1332A	.	T	+	1	0	APC	112203184	1.000000	0.71417	0.998000	0.56505	0.574000	0.36063	2.795000	0.47861	0.495000	0.27882	0.533000	0.62120	ACC	APC	-	NULL	ENSG00000134982		0.448	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	39	0	A	NM_000038		112175285	1			no_errors	ENST00000257430	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	G	G	112175285	A	G	112175285	3	3	171	1	0	0	0	0	1	0	0	0	763	43	2	4	4052	4	APC	5	112175285	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	26	112175285	68739975	63	43036											
PCDHGB1	56104	genome.wustl.edu	37	chr5	140729955	140729955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaggagctagccaacggctCacgggtggggaaacttgcca	11	5	15	10	2	1	1	1	0	0	1	1	3	1	3	2	5	5	2	2	5	3	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:140729955C>T	ENST00000523390.1	+	1	128	c.128C>T	c.(127-129)tCa>tTa	p.S43L	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	43	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)			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)			GCCAACGGCTCACGGGTGGGG	0.527											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													51	51	51					5																	140729955		1886	4126	6012	SO:0001583	missense	0			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.128C>T	5.37:g.140729955C>T	ENSP00000429273:p.Ser43Leu	1658	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S43L	ENST00000523390.1	37	c.128	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	17.29	3.352699	0.61293	.	.	ENSG00000254221	ENST00000523390	T	0.38722	1.12	5.52	4.63	0.57726	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.60996	0.2312	M	0.92555	3.32	0.35126	D	0.767462	B;B	0.30664	0.214;0.289	B;B	0.40477	0.299;0.33	T	0.74297	-0.3711	9	0.72032	D	0.01	.	13.5199	0.61561	0.0:0.9209:0.0:0.0791	.	43;43	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	L	43	ENSP00000429273:S43L	ENSP00000429273:S43L	S	+	2	0	PCDHGB1	140710139	0.825000	0.29262	0.865000	0.33974	0.855000	0.48748	2.836000	0.48183	1.402000	0.46780	0.563000	0.77884	TCA	PCDHGB1	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000254221		0.527	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	-	0	76	0	C	NM_018922		140729955	1	tier1	-	no_errors	ENST00000523390	ensembl	human	known	74_37	missense	30.61	34	15	SNP	0.998	T	T	140729955	C	T	140729955	3	4	171	1	0	0	0	0	1	0	0	0	11601	838	29	3	130	3	PCDHGB1	5	140729955	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	28554670	140729955	40185305	64	43037											
TIGD6	81789	genome.wustl.edu	37	chr5	149375184	149375187	+	Frame_Shift_Del	DEL	GAAT	GAAT	-																															ctcggtaatcacaagggaggGaatgaatgttcttgaggcag																										TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	GAAT	GAAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:149375184_149375187delGAAT	ENST00000296736.3	-	2	1499_1502	c.725_728delATTC	c.(724-729)cattccfs	p.HS242fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.HS242fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	242	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)			ACAAGGGAGGGAATGAATGTTCTT	0.505																																																	0																																										SO:0001589	frameshift_variant	0			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.725_728delATTC	5.37:g.149375188_149375191delGAAT	ENSP00000296736:p.His242fs		B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Del	DEL	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.H242fs	ENST00000296736.3	37	c.728_725	CCDS4301.1	5																																																																																			TIGD6	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000164296		0.505	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD6	HGNC	protein_coding	OTTHUMT00000252324.1		0	49	0	GAAT	NM_030953		149375187	-1	tier1		no_errors	ENST00000296736	ensembl	human	known	74_37	frame_shift_del	20.97	49	13	DEL	0.917:0.791:0.794:0.949	-	-	149375187	GAAT	-	149375184	7	5	171	1	0	1	0	1	0	0	0	0	15947	1174	41	0	841	0	TIGD6	5	149375184	Frame_Shift_Del	DEL	GAAT	TCGA-VR-A8Q7-01A-11D-A37C-09	8645229	149375184	31540076	65	43038											
NDST1	3340	genome.wustl.edu	37	chr5	149900924	149900924	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgttttcatctcggcctaCtacctatatggctggaagcg	8	12	10	11	3	2	0	1	0	1	0	3	1	2	1	2	3	4	2	2	3	5	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:149900924C>T	ENST00000261797.6	+	2	610	c.108C>T	c.(106-108)taC>taT	p.Y36Y	NDST1_ENST00000523767.1_Silent_p.Y36Y	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	36					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)			TCTCGGCCTACTACCTATATG	0.662																																																	0													129	119	122					5																	149900924		2203	4300	6503	SO:0001819	synonymous_variant	0			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.108C>T	5.37:g.149900924C>T			Q96E57	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.Y36	ENST00000261797.6	37	c.108	CCDS34277.1	5																																																																																			NDST1	-	pfam_Heparan_SO4_deacetylase	ENSG00000070614		0.662	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	-	0	51	0	C	NM_001543		149900924	1	tier1	-	no_errors	ENST00000261797	ensembl	human	known	74_37	silent	30.36	39	17	SNP	1.000	T	T	149900924	C	T	149900924	2	4	171	1	0	0	0	0	0	0	0	1	10294	576	20	3		3	NDST1	5	149900924	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	525740	149900924	31014336	66	43039											
FABP6	2172	genome.wustl.edu	37	chr5	159640768	159640768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagctgtgttgtctgcgtGcacatgggtgagccggaaag	8	9	17	7	2	1	2	0	1	1	1	1	4	1	3	1	2	4	3	1	2	1	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:159640768G>A	ENST00000393980.4	+	3	223	c.77G>A	c.(76-78)tGc>tAc	p.C26Y	FABP6_ENST00000393982.1_Missense_Mutation_p.C26Y	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	0					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.C26Y(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTCTGCGTGCACATGGGTG	0.493																																					Colon(29;562 677 12756 16385 20992)												1	Substitution - Missense(1)	large_intestine(1)											149	157	155					5																	159640768		2064	4233	6297	SO:0001583	missense	0			U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"Fatty acid binding protein family"	3561	protein-coding gene	gene with protein product	"illeal lipid-binding protein", "ileal bile acid binding protein", "gastrotropin"	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000393980.4:c.77G>A	5.37:g.159640768G>A	ENSP00000377549:p.Cys26Tyr		Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP	superfamily_Calycin-like,prints_Fatty_acid-bd	p.C26Y	ENST00000393980.4	37	c.77	CCDS43393.1	5	.	.	.	.	.	.	.	.	.	.	G	5.746	0.322117	0.10900	.	.	ENSG00000170231	ENST00000393980;ENST00000393982	T;T	0.14022	2.54;2.54	2.25	-0.638	0.11500	.	.	.	.	.	T	0.09598	0.0236	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31861	-0.9928	8	0.87932	D	0	.	5.261	0.15573	0.4367:0.0:0.5633:0.0	.	26	P51161-2	.	Y	26	ENSP00000377549:C26Y;ENSP00000377551:C26Y	ENSP00000377549:C26Y	C	+	2	0	FABP6	159573346	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.352000	0.20113	-0.200000	0.10300	0.549000	0.68633	TGC	FABP6	-	NULL	ENSG00000170231		0.493	FABP6-001	KNOWN	basic|CCDS	protein_coding	FABP6	HGNC	protein_coding	OTTHUMT00000252678.4		0	45	0	G	NM_001040442		159640768	1			no_errors	ENST00000393980	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	A	A	159640768	G	A	159640768	3	1	171	1	0	0	0	0	1	0	0	0	5380	1319	46	3	83	3	FABP6	5	159640768	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	9739844	159640768	21274492	67	43040											
ATP10B	23120	genome.wustl.edu	37	chr5	160049468	160049468	+	Missense_Mutation	SNP	T	T	A	0	1	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	tggttaaggcaaggaagaaaTcagcaatggaggaggtggtg	14	7	17	3	0	1	1	1	0	0	1	1	4	1	4	0	7	1	3	0	7	5	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:160049468T>A	ENST00000327245.5	-	14	2591	c.1745A>T	c.(1744-1746)gAt>gTt	p.D582V	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	582					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)			AAGGAAGAAATCAGCAATGGA	0.567																																																	0													77	81	80					5																	160049468		2002	4180	6182	SO:0001583	missense	0			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.1745A>T	5.37:g.160049468T>A	ENSP00000313600:p.Asp582Val		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.D582V	ENST00000327245.5	37	c.1745	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701250	0.88924	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.85955	-2.05;-2.05	5.53	5.53	0.82687	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.92218	0.7532	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92572	0.6067	9	.	.	.	.	14.8695	0.70444	0.0:0.0:0.0:1.0	.	190;582	Q2YDW8;O94823	.;AT10B_HUMAN	V	582;190	ENSP00000313600:D582V;ENSP00000431081:D190V	.	D	-	2	0	ATP10B	159982046	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.946000	0.87746	2.100000	0.63781	0.533000	0.62120	GAT	ATP10B	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000118322		0.567	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	-	0	48	0	T	NM_025153		160049468	-1	tier1	-	no_errors	ENST00000327245	ensembl	human	known	74_37	missense	48.72	20	19	SNP	1.000	A	A	160049468	T	A	160049468	3	1	171	1	0	0	0	0	1	0	0	0	1118	1435	50	5	2692	5	ATP10B	5	160049468	Missense_Mutation	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	408700	160049468	20865792	68	43041											
GABRA6	2559	genome.wustl.edu	37	chr5	161115980	161115980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgatggatgtttttttccGccagacctggactgatgaga	9	13	11	8	2	0	3	0	2	0	2	1	7	1	5	3	2	1	1	3	2	1	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:161115980G>A	ENST00000274545.5	+	4	684	c.251G>A	c.(250-252)cGc>cAc	p.R84H	GABRA6_ENST00000523217.1_Intron|GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	84					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)	GTTTTTTTCCGCCAGACCTGG	0.403										TCGA Ovarian(5;0.080)																																							0													82	84	83					5																	161115980		2203	4299	6502	SO:0001583	missense	0				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.251G>A	5.37:g.161115980G>A	ENSP00000274545:p.Arg84His		A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R84H	ENST00000274545.5	37	c.251	CCDS4356.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.191597|5.191597	0.94923|0.94923	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000520000|ENST00000274545;ENST00000517823	.|T;T	.|0.80214	.|-1.35;-1.35	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90714|0.90714	0.7086|0.7086	M|M	0.81682|0.81682	2.555|2.555	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.91048|0.91048	0.4876|0.4876	5|10	.|0.87932	.|D	.|0	.|.	20.0965|20.0965	0.97849|0.97849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|84	.|Q16445	.|GBRA6_HUMAN	T|H	24|84;31	.|ENSP00000274545:R84H;ENSP00000430212:R31H	.|ENSP00000274545:R84H	A|R	+|+	1|2	0|0	GABRA6|GABRA6	161048558|161048558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.695000|9.695000	0.98691|0.98691	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GCC|CGC	GABRA6	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000145863		0.403	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2		0	55	0	G			161115980	1			no_errors	ENST00000274545	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	A	A	161115980	G	A	161115980	3	1	171	1	0	0	0	0	1	0	0	0	6189	1087	38	1	265	1	GABRA6	5	161115980	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	1066512	161115980	19799280	69	43042											
NPM1	4869	genome.wustl.edu	37	chr5	170817096	170817096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagattatcactttaaggtgGataatgatgaaaatgagcac	17	11	9	4	0	1	4	1	3	0	1	1	5	1	5	0	2	1	1	0	2	6	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:170817096G>C	ENST00000296930.5	+	2	401	c.100G>C	c.(100-102)Gat>Cat	p.D34H	NPM1_ENST00000517671.1_Missense_Mutation_p.D34H|NPM1_ENST00000351986.6_Missense_Mutation_p.D34H|NPM1_ENST00000393820.2_Missense_Mutation_p.D34H	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	34	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)			CTTTAAGGTGGATAATGATGA	0.318			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																			Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	0													74	73	74					5																	170817096		2203	4299	6502	SO:0001583	missense	0			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.100G>C	5.37:g.170817096G>C	ENSP00000296930:p.Asp34His		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	superfamily_Nucleoplasmin_core_dom	p.D34H	ENST00000296930.5	37	c.100	CCDS4376.1	5	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690029	0.68271	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000351986;ENST00000393820;ENST00000523622	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	4.74	3.86	0.44501	Nucleoplasmin core (2);	0.131424	0.50627	U	0.000108	T	0.66577	0.2803	M	0.91920	3.255	0.33455	D	0.584246	D;D;D	0.57899	0.978;0.98;0.981	P;P;P	0.56474	0.776;0.74;0.799	T	0.78831	-0.2049	10	0.87932	D	0	.	8.6163	0.33833	0.0858:0.1565:0.7577:0.0	.	34;34;34	P06748-2;P06748;Q9BYG9	.;NPM_HUMAN;.	H	34;34;34;34;26	ENSP00000428755:D34H;ENSP00000296930:D34H;ENSP00000341168:D34H;ENSP00000377408:D34H;ENSP00000428647:D26H	ENSP00000296930:D34H	D	+	1	0	NPM1	170749701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.424000	0.52764	1.092000	0.41356	0.655000	0.94253	GAT	NPM1	-	superfamily_Nucleoplasmin_core_dom	ENSG00000181163		0.318	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	HGNC	protein_coding	OTTHUMT00000252858.2	-	0	82	0	G	NM_002520		170817096	1	tier1	-	no_errors	ENST00000296930	ensembl	human	known	74_37	missense	19.23	41	10	SNP	1.000	C	C	170817096	G	C	170817096	3	2	171	1	0	0	0	0	1	0	0	0	10626	1174	41	5	106	5	NPM1	5	170817096	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	9701116	170817096	10098164	70	43043											
HK3	3101	genome.wustl.edu	37	chr5	176308099	176308099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cacgagtcaactgcgcaaggCggcaggcaacagcggtgacc	11	3	14	13	4	1	1	1	1	0	0	1	2	1	1	1	4	4	3	1	4	3	0			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr5:176308099C>T	ENST00000292432.5	-	19	2838	c.2747G>A	c.(2746-2748)cGc>cAc	p.R916H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	916	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCGCAAGGCGGCAGGCAAC	0.667																																																	0													42	43	43					5																	176308099		2203	4300	6503	SO:0001583	missense	0				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2747G>A	5.37:g.176308099C>T	ENSP00000292432:p.Arg916His		Q8N1E7	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R916H	ENST00000292432.5	37	c.2747	CCDS4407.1	5	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112651	0.56398	.	.	ENSG00000160883	ENST00000292432	D	0.97089	-4.24	5.22	5.22	0.72569	Hexokinase, C-terminal (1);	0.000000	0.50627	D	0.000114	D	0.98523	0.9507	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99023	1.0818	10	0.87932	D	0	-24.4099	14.1557	0.65417	0.0:1.0:0.0:0.0	.	916	P52790	HXK3_HUMAN	H	916	ENSP00000292432:R916H	ENSP00000292432:R916H	R	-	2	0	HK3	176240705	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	4.316000	0.59178	2.714000	0.92807	0.561000	0.74099	CGC	HK3	-	pfam_Hexokinase_C	ENSG00000160883		0.667	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK3	HGNC	protein_coding	OTTHUMT00000253428.1	-	0	48	0	C			176308099	-1	tier1	-	no_errors	ENST00000292432	ensembl	human	known	74_37	missense	57.69	22	30	SNP	1.000	T	T	176308099	C	T	176308099	3	4	171	1	0	0	0	0	1	0	0	0	7219	768	27	1	28	1	HK3	5	176308099	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	5491003	176308099	4607161	71	43044											
KIAA0319	9856	genome.wustl.edu	37	chr6	24588968	24588968	+	Missense_Mutation	SNP	T	T	C	0	1	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	tttctccacggtgactgagcTgagctccaggcttgccggag	6	10	13	12	2	1	3	0	3	1	0	3	4	2	4	3	3	3	3	3	3	0	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr6:24588968T>C	ENST00000378214.3	-	4	1371	c.847A>G	c.(847-849)Agc>Ggc	p.S283G	KIAA0319_ENST00000543707.1_Missense_Mutation_p.S283G|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S283G|KIAA0319_ENST00000535378.1_Missense_Mutation_p.S274G|KIAA0319_ENST00000430948.2_Missense_Mutation_p.S238G	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	283					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						GTGACTGAGCTGAGCTCCAGG	0.507																																																	0													122	103	109					6																	24588968		2203	4300	6503	SO:0001583	missense	0			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.847A>G	6.37:g.24588968T>C	ENSP00000367459:p.Ser283Gly		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.S283G	ENST00000378214.3	37	c.847	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	T	4.348	0.064088	0.08388	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.07800	3.16;3.17;3.17;3.17;3.17	4.3	4.3	0.51218	.	0.219163	0.32343	N	0.006222	T	0.02119	0.0066	L	0.36672	1.1	0.09310	N	1	B;B;B	0.24823	0.041;0.112;0.068	B;B;B	0.22601	0.04;0.04;0.018	T	0.38286	-0.9668	10	0.36615	T	0.2	-11.9033	5.0163	0.14337	0.1944:0.0:0.1736:0.632	.	283;274;283	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	G	283;274;238;283;283	ENSP00000439700:S283G;ENSP00000442403:S274G;ENSP00000401086:S238G;ENSP00000367459:S283G;ENSP00000437656:S283G	ENSP00000367459:S283G	S	-	1	0	KIAA0319	24696947	0.553000	0.26513	0.333000	0.25482	0.224000	0.24922	1.621000	0.36986	1.795000	0.52594	0.477000	0.44152	AGC	KIAA0319	-	NULL	ENSG00000137261		0.507	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	-	0	40	0	T	NM_014809		24588968	-1	tier1	-	no_errors	ENST00000378214	ensembl	human	known	74_37	missense	38.67	46	29	SNP	0.087	C	C	24588968	T	C	24588968	3	2	171	1	0	0	0	0	1	0	0	0	8195	1580	55	4	2443	4	KIAA0319	6	24588968	Missense_Mutation	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09		24588968	146526099	72	43045											
TRIM26	7726	genome.wustl.edu	37	chr6	30154080	30154082	+	In_Frame_Del	DEL	TCC	TCC	-																															ccccatagccggcctcctctTcctcctcctcctcttctccc																								rs577858642|rs59539207	byFrequency	TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr6:30154080_30154082delTCC	ENST00000454678.2	-	10	1627_1629	c.1191_1193delGGA	c.(1189-1194)gaggaa>gaa	p.397_398EE>E	TRIM26_ENST00000453195.1_In_Frame_Del_p.397_398EE>E|TRIM26_ENST00000437089.1_In_Frame_Del_p.397_398EE>E	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	397	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Poly-Glu.				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)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						GGcctcctcttcctcctcctcct	0.571														3	0.000599042	0.0023	0	5008	,	,		19881	0		0	False		,,,				2504	0																0									,	14,3674		2,10,1832					,	-7.8	0		dbSNP_129	92	17,7589		2,13,3788	no	coding,coding	TRIM26	NM_003449.4,NM_001242783.1	,	4,23,5620	A1A1,A1R,RR		0.2235,0.3796,0.2745	,	,		31,11263				SO:0001651	inframe_deletion	0			AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.1191_1193delGGA	6.37:g.30154089_30154091delTCC	ENSP00000410446:p.Glu400del		A6NG96|Q5SRL2	In_Frame_Del	DEL	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E400in_frame_del	ENST00000454678.2	37	c.1193_1191	CCDS4678.1	6																																																																																			TRIM26	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000234127		0.571	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM26	HGNC	protein_coding	OTTHUMT00000253442.1		0	26	0	TCC	NM_003449		30154082	-1	tier1		no_errors	ENST00000437089	ensembl	human	known	74_37	in_frame_del	6.45	29	2	DEL	0.559:0.740:0.761	-	-	30154082	TCC	-	30154080	7	5	171	1	0	1	0	1	0	0	0	0	16548	1783	62	0	430	0	TRIM26	6	30154080	In_Frame_Del	DEL	TCC	TCGA-VR-A8Q7-01A-11D-A37C-09	5565112	30154080	140960987	73	43046											
UNCX	340260	genome.wustl.edu	37	chr7	1273157	1273157	+	Splice_Site	SNP	C	C	A	0	0	0	1	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	gtcctgtgactgcccgcagaCtcgggggacccggacaagga	8	5	15	13	3	0	2	0	1	0	1	2	5	1	5	3	4	1	1	3	4	1	0			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr7:1273157C>A	ENST00000316333.8	+	2	387	c.276C>A	c.(274-276)gaC>gaA	p.D92E		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	92					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGCCCGCAGACTCGGGGGACC	0.741																																																	0													12	15	14					7																	1273157		2188	4276	6464	SO:0001630	splice_region_variant	0				CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"Homeoboxes / PRD class"	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.275-1C>A	7.37:g.1273157C>A			A4D221	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.D92E	ENST00000316333.8	37	c.276	CCDS34583.1	7	.	.	.	.	.	.	.	.	.	.	c	14.83	2.653787	0.47362	.	.	ENSG00000164853	ENST00000316333	D	0.95554	-3.74	3.0	3.0	0.34707	Homeodomain-related (1);Homeodomain-like (1);	0.071629	0.52532	U	0.000064	D	0.91365	0.7276	L	0.33753	1.03	0.80722	D	1	B	0.26744	0.158	B	0.26094	0.066	D	0.89840	0.4002	10	0.45353	T	0.12	.	13.5542	0.61749	0.0:1.0:0.0:0.0	.	92	A6NJT0	UNC4_HUMAN	E	92	ENSP00000314480:D92E	ENSP00000314480:D92E	D	+	3	2	UNCX	1239683	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	2.131000	0.42074	1.741000	0.51731	0.473000	0.43528	GAC	UNCX	-	superfamily_Homeodomain-like	ENSG00000164853		0.741	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	HGNC	protein_coding	OTTHUMT00000324910.2	-	0	101	0	C	NM_001080461	Missense_Mutation	1273157	1	tier1	-	no_errors	ENST00000316333	ensembl	human	known	74_37	missense	7.69	120	10	SNP	1.000	A	A	1273157	C	A	1273157	5	1	171	1	0	0	0	0	0	0	1	0	17047	579	20	3	282	3	UNCX	7	1273157	Splice_Site	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09		1273157	157865506	74	43047											
RSPH10B	222967	genome.wustl.edu	37	chr7	6000459	6000459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gccgtccggccacgtgtacaCgccgtggttcatcgggacat	6	8	13	14	6	1	0	1	0	0	0	3	1	2	1	4	3	1	2	4	3	1	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr7:6000459C>T	ENST00000405415.1	-	5	822	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	RSPH10B_ENST00000337579.3_Missense_Mutation_p.V146M|RSPH10B_ENST00000441023.2_Missense_Mutation_p.V146M|RSPH10B_ENST00000539903.1_5'Flank|RSPH10B_ENST00000404406.1_Missense_Mutation_p.V146M|RSPH10B_ENST00000535104.1_5'UTR			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	146										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		CACGTGTACACGCCGTGGTTC	0.587																																																	0													5	6	5					7																	6000459		882	2461	3343	SO:0001583	missense	0				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.436G>A	7.37:g.6000459C>T	ENSP00000385443:p.Val146Met		A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.V146M	ENST00000405415.1	37	c.436	CCDS34598.1	7	.	.	.	.	.	.	.	.	.	.	C	2.340	-0.351302	0.05173	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000354951;ENST00000441023	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	4.07	-5.04	0.02964	.	1.935030	0.02710	N	0.112725	T	0.40448	0.1117	L	0.41236	1.265	0.09310	N	1	P	0.40602	0.723	B	0.27262	0.078	T	0.42430	-0.9452	10	0.33940	T	0.23	.	9.0561	0.36405	0.108:0.2358:0.0:0.6561	.	146	P0C881	R10B1_HUMAN	M	146;146;146;5;146	ENSP00000385443:V146M;ENSP00000384097:V146M;ENSP00000338556:V146M;ENSP00000400988:V146M	ENSP00000338556:V146M	V	-	1	0	RSPH10B	5966985	0.000000	0.05858	0.002000	0.10522	0.146000	0.21551	-1.675000	0.01947	-1.162000	0.02797	-0.367000	0.07326	GTG	RSPH10B	-	pfam_MORN,smart_MORN	ENSG00000155026		0.587	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B	HGNC	protein_coding	OTTHUMT00000325465.2	-	0	48	0	C	NM_173565		6000459	-1	tier1	-	no_errors	ENST00000337579	ensembl	human	known	74_37	missense	38.75	49	31	SNP	0.000	T	T	6000459	C	T	6000459	3	4	171	1	0	0	0	0	1	0	0	0	13748	536	19	1	2240	1	RSPH10B	7	6000459	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	4727302	6000459	153138204	75	43048											
DGKB	1607	genome.wustl.edu	37	chr7	14652969	14652969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatcaaaaaacataccgttCtccttgttttccaccacttt	12	14	2	13	1	2	0	1	0	1	0	4	0	3	0	4	0	2	2	4	0	5	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr7:14652969C>T	ENST00000403951.2	-	16	1776	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.E452K|DGKB_ENST00000399322.3_Missense_Mutation_p.E453K|DGKB_ENST00000258767.5_Missense_Mutation_p.E453K|DGKB_ENST00000444700.2_Missense_Mutation_p.E434K|DGKB_ENST00000406247.3_Missense_Mutation_p.E453K|DGKB_ENST00000407950.1_Missense_Mutation_p.E445K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	453	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						ACATACCGTTCTCCTTGTTTT	0.313																																																	0													47	45	45					7																	14652969		1814	4067	5881	SO:0001583	missense	0			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.1357G>A	7.37:g.14652969C>T	ENSP00000385780:p.Glu453Lys		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E453K	ENST00000403951.2	37	c.1357	CCDS47547.1	7	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408424	0.83340	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.42	5.42	0.78866	Diacylglycerol kinase, catalytic domain (3);	0.126528	0.52532	D	0.000076	T	0.28732	0.0712	N	0.17674	0.51	0.53005	D	0.999961	D;B;B;P	0.53619	0.961;0.149;0.149;0.951	P;B;B;P	0.58780	0.845;0.192;0.192;0.677	T	0.02081	-1.1217	10	0.25106	T	0.35	.	19.5742	0.95434	0.0:1.0:0.0:0.0	.	452;434;453;453	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	K	453;453;453;452;445;434;453	ENSP00000385780:E453K;ENSP00000382260:E453K;ENSP00000258767:E453K;ENSP00000384909:E452K;ENSP00000385031:E445K;ENSP00000388451:E434K;ENSP00000386066:E453K	ENSP00000258767:E453K	E	-	1	0	DGKB	14619494	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.651000	0.74372	2.698000	0.92095	0.591000	0.81541	GAA	DGKB	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000136267		0.313	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	-	0	83	0	C	NM_004080		14652969	-1	tier1	-	no_errors	ENST00000258767	ensembl	human	known	74_37	missense	12.69	117	17	SNP	1.000	T	T	14652969	C	T	14652969	3	4	171	1	0	0	0	0	1	0	0	0	4480	922	32	3	1116	3	DGKB	7	14652969	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	8652510	14652969	144485694	76	43049											
TBX20	57057	genome.wustl.edu	37	chr7	35284578	35284578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatggccatgttgatccaGttcattgttggtgagtttca	8	16	10	7	0	2	2	2	2	0	0	3	2	3	2	2	2	1	4	2	2	1	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr7:35284578G>T	ENST00000408931.3	-	4	1163	c.637C>A	c.(637-639)Ctg>Atg	p.L213M		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	213					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TGTTGATCCAGTTCATTGTTG	0.458																																																	0													214	163	180					7																	35284578		2203	4300	6503	SO:0001583	missense	0			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.637C>A	7.37:g.35284578G>T	ENSP00000386170:p.Leu213Met		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L213M	ENST00000408931.3	37	c.637	CCDS43568.1	7	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364921	0.61513	.	.	ENSG00000164532	ENST00000408931	D	0.90261	-2.64	5.47	4.6	0.57074	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.82162	0.4977	N	0.03084	-0.415	0.80722	D	1	B	0.22683	0.073	B	0.36464	0.225	T	0.76389	-0.2977	10	0.25106	T	0.35	.	14.2254	0.65855	0.072:0.0:0.928:0.0	.	213	Q9UMR3	TBX20_HUMAN	M	213	ENSP00000386170:L213M	ENSP00000386170:L213M	L	-	1	2	TBX20	35251103	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.220000	0.58567	1.314000	0.45095	0.591000	0.81541	CTG	TBX20	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000164532		0.458	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	-	0	83	0	G	NM_020417		35284578	-1	tier1	-	no_errors	ENST00000408931	ensembl	human	known	74_37	missense	9.68	83	9	SNP	1.000	T	T	35284578	G	T	35284578	3	4	171	1	0	0	0	0	1	0	0	0	15703	1020	36	3	727	3	TBX20	7	35284578	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	20631609	35284578	123854085	77	43050											
C7orf64	84060	genome.wustl.edu	37	chr7	92163945	92163945	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcaccagactcctctaaGgatggtagaaaccatcataa	16	7	8	10	0	2	3	1	0	1	3	3	4	3	4	3	2	2	2	3	2	4	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr7:92163945G>T	ENST00000265732.5	+	4	719	c.678G>T	c.(676-678)aaG>aaT	p.K226N	RBM48_ENST00000481551.1_Missense_Mutation_p.K226N	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	226						nucleus (GO:0005634)	RNA binding (GO:0003723)										ACTCCTCTAAGGATGGTAGAA	0.423																																																	0													117	103	108					7																	92163945		1890	4104	5994	SO:0001583	missense	0			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.678G>T	7.37:g.92163945G>T	ENSP00000265732:p.Lys226Asn		B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	NULL	p.K226N	ENST00000265732.5	37	c.678	CCDS43615.1	7	.	.	.	.	.	.	.	.	.	.	G	5.945	0.358349	0.11239	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.19	3.34	0.38264	.	0.628423	0.18212	N	0.148143	T	0.23846	0.0577	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23547	-1.0185	9	0.09843	T	0.71	3.9867	4.7799	0.13197	0.0829:0.1442:0.614:0.1589	.	226;226	B7Z2K5;Q5RL73	.;CG064_HUMAN	N	226	.	ENSP00000265732:K226N	K	+	3	2	C7orf64	92001881	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.361000	0.20267	0.716000	0.32124	0.591000	0.81541	AAG	RBM48	-	NULL	ENSG00000127993		0.423	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM48	HGNC	protein_coding	OTTHUMT00000356076.1		0	51	0	G	NM_032120		92163945	1			no_errors	ENST00000265732	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.000	T	T	92163945	G	T	92163945	3	4	171	1	0	0	0	0	1	0	0	0	2417	991	35	3	692	3	C7orf64	7	92163945	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	56879367	92163945	66974718	78	43051											
CLDN15	24146	genome.wustl.edu	37	chr7	100877648	100877648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttggtgcagcgcaggcccGctatgcctagcaagaggccg	7	7	15	12	3	0	1	0	0	0	1	0	1	0	1	3	3	4	5	3	3	3	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr7:100877648G>A	ENST00000401528.1	-	3	1418	c.293C>T	c.(292-294)gCg>gTg	p.A98V	CLDN15_ENST00000308344.5_Missense_Mutation_p.A98V|CLDN15_ENST00000433422.1_5'UTR	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	98					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.A98V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGCAGGCCCGCTATGCCTAG	0.657																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											56	62	60					7																	100877648		2203	4300	6503	SO:0001583	missense	0			AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"Claudins"	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.293C>T	7.37:g.100877648G>A	ENSP00000385300:p.Ala98Val		B3KPB5	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin15	p.A98V	ENST00000401528.1	37	c.293	CCDS5717.1	7	.	.	.	.	.	.	.	.	.	.	G	1.572	-0.533838	0.04082	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000412417	D;D;T	0.88509	-2.39;-2.39;0.39	5.11	1.11	0.20524	.	1.110160	0.06835	N	0.794648	T	0.65760	0.2722	N	0.00783	-1.19	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57877	-0.7735	10	0.02654	T	1	.	7.9348	0.29923	0.7439:0.0:0.2561:0.0	.	98	P56746	CLD15_HUMAN	V	98;98;75	ENSP00000308870:A98V;ENSP00000385300:A98V;ENSP00000390230:A75V	ENSP00000308870:A98V	A	-	2	0	CLDN15	100664368	0.369000	0.25039	0.154000	0.22540	0.607000	0.37147	2.574000	0.46016	-0.006000	0.14370	-0.672000	0.03802	GCG	CLDN15	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000106404		0.657	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN15	HGNC	protein_coding	OTTHUMT00000318698.1	-	0	42	0	G	NM_014343		100877648	-1	tier1	-	no_errors	ENST00000308344	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.306	A	A	100877648	G	A	100877648	3	1	171	1	0	0	0	0	1	0	0	0	3483	1087	38	1	409	1	CLDN15	7	100877648	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	8713703	100877648	58261015	79	43052											
C7orf58	79974	genome.wustl.edu	37	chr7	120782104	120782104	+	Missense_Mutation	SNP	A	A	G	1	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	tgaatctccagcacacggtgAgactctgatcacgtacaaac	13	8	8	12	2	3	3	1	3	2	1	4	4	3	3	1	1	3	2	1	1	3	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr7:120782104A>G	ENST00000310396.5	+	16	2431	c.1964A>G	c.(1963-1965)gAg>gGg	p.E655G	CPED1_ENST00000423795.1_Missense_Mutation_p.E435G|CPED1_ENST00000450913.2_Missense_Mutation_p.E655G	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	655						endoplasmic reticulum (GO:0005783)											GCACACGGTGAGACTCTGATC	0.473																																																	0													170	156	160					7																	120782104		2203	4299	6502	SO:0001583	missense	0				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.1964A>G	7.37:g.120782104A>G	ENSP00000309772:p.Glu655Gly		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.E655G	ENST00000310396.5	37	c.1964	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	A	2.798	-0.249784	0.05867	.	.	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.24350	2.18;1.86;1.86	5.77	3.3	0.37823	.	0.805350	0.11554	N	0.552469	T	0.23171	0.0560	L	0.47716	1.5	0.19945	N	0.99994	P;P;B	0.35575	0.51;0.51;0.381	B;B;B	0.36666	0.154;0.23;0.183	T	0.14392	-1.0474	10	0.29301	T	0.29	.	8.474	0.33001	0.6243:0.2541:0.0:0.1216	.	435;655;655	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	G	655;655;435	ENSP00000309772:E655G;ENSP00000406122:E655G;ENSP00000415573:E435G	ENSP00000309772:E655G	E	+	2	0	C7orf58	120569340	0.192000	0.23301	0.028000	0.17463	0.013000	0.08279	1.563000	0.36364	0.476000	0.27440	0.533000	0.62120	GAG	CPED1	-	NULL	ENSG00000106034		0.473	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	-	0	73	0	A	NM_024913		120782104	1	tier1	-	no_errors	ENST00000310396	ensembl	human	known	74_37	missense	8.16	89	8	SNP	0.017	G	G	120782104	A	G	120782104	3	3	171	1	0	0	0	0	1	0	0	0	2412	304	11	4	2022	4	C7orf58	7	120782104	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	19904456	120782104	38356559	80	43053											
MLL3	58508	genome.wustl.edu	37	chr7	151962134	151962134	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaacttacttgcagttctgGcacactttgcactcaggaca	12	11	7	11	0	2	0	1	0	1	0	2	1	2	1	0	2	4	4	0	2	3	4	rs146238849		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr7:151962134G>T	ENST00000262189.6	-	8	1391	c.1173C>A	c.(1171-1173)tgC>tgA	p.C391*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C391*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	391					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.C391*(2)									TGCAGTTCTGGCACACTTTGC	0.408																																																	2	Substitution - Nonsense(2)	NS(2)											230	213	219					7																	151962134		2203	4297	6500	SO:0001587	stop_gained	0			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.1173C>A	7.37:g.151962134G>T	ENSP00000262189:p.Cys391*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.C391*	ENST00000262189.6	37	c.1173	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.887843	0.98545	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.53	3.62	0.41486	.	0.000000	0.45867	U	0.000330	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2395	0.54534	0.0835:0.0:0.9165:0.0	.	.	.	.	X	391	.	ENSP00000262189:C391X	C	-	3	2	MLL3	151593067	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.718000	0.74713	2.206000	0.71126	0.460000	0.39030	TGC	KMT2C	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger	ENSG00000055609		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	145	0	G			151962134	-1	tier1	rs146238849	no_errors	ENST00000355193	ensembl	human	known	74_37	nonsense	7.14	117	9	SNP	1.000	T	T	151962134	G	T	151962134	4	4	171	1	0	0	0	0	0	1	0	0	9660	1195	42	3	13770	3	MLL3	7	151962134	Nonsense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	31180030	151962134	7176529	81	43054											
MLL3	58508	genome.wustl.edu	37	chr7	151962168	151962168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	caggacattgccaacctgcaCgttttaatggagtaaccgct	11	10	9	11	2	0	0	0	0	0	0	0	2	0	2	3	2	4	4	3	2	3	4	rs138908625	byFrequency	TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr7:151962168C>A	ENST00000262189.6	-	8	1357	c.1139G>T	c.(1138-1140)cGt>cTt	p.R380L	KMT2C_ENST00000355193.2_Missense_Mutation_p.R380L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	380					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.R380L(4)									CCAACCTGCACGTTTTAATGG	0.443																																																	4	Substitution - Missense(4)	skin(4)						C	LEU/ARG	29,4377	25.3+/-52.1	0,29,2174	410	369	383		1139	4.7	1	7	dbSNP_134	383	15,8585	3.7+/-12.6	0,15,4285	no	missense	MLL3	NM_170606.2	102	0,44,6459	AA,AC,CC		0.1744,0.6582,0.3383	probably-damaging	380/4912	151962168	44,12962	2203	4300	6503	SO:0001583	missense	0			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.1139G>T	7.37:g.151962168C>A	ENSP00000262189:p.Arg380Leu		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R380L	ENST00000262189.6	37	c.1139	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688003	0.48097	0.006582	0.001744	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98876	-5.2;-5.2	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	0.38548	U	0.001645	D	0.98560	0.9519	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.96263	0.9192	10	0.52906	T	0.07	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	380	Q8NEZ4	MLL3_HUMAN	L	380	ENSP00000262189:R380L;ENSP00000347325:R380L	ENSP00000262189:R380L	R	-	2	0	MLL3	151593101	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	6.039000	0.70972	2.271000	0.75665	0.557000	0.71058	CGT	KMT2C	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING	ENSG00000055609		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	183	0	C			151962168	-1	tier1	rs138908625	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	8.65	169	16	SNP	1.000	A	A	151962168	C	A	151962168	3	1	171	1	0	0	0	0	1	0	0	0	9660	536	19	2	13804	2	MLL3	7	151962168	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	34	151962168	7176495	82	43055											
XRCC2	7516	genome.wustl.edu	37	chr7	152345900	152345900	+	Nonsense_Mutation	SNP	T	T	A	0	1	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	tgccttacagagataaggtcTgtagtctatgtccacatcac	11	12	8	10	0	3	1	1	0	2	1	4	2	4	1	2	1	2	1	2	1	4	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr7:152345900T>A	ENST00000359321.1	-	3	755	c.670A>T	c.(670-672)Aga>Tga	p.R224*	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	224					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		AGATAAGGTCTGTAGTCTATG	0.428								Homologous recombination																																									0													173	169	170					7																	152345900		2203	4300	6503	SO:0001587	stop_gained	0			Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"RAD51-like"	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.670A>T	7.37:g.152345900T>A	ENSP00000352271:p.Arg224*		B2R925	Nonsense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.R224*	ENST00000359321.1	37	c.670	CCDS5933.1	7	.	.	.	.	.	.	.	.	.	.	T	19.20	3.782479	0.70222	.	.	ENSG00000196584	ENST00000359321	.	.	.	5.06	2.6	0.31112	.	0.150969	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.7136	12.2623	0.54658	0.0:0.0:0.4062:0.5938	.	.	.	.	X	224	.	ENSP00000352271:R224X	R	-	1	2	XRCC2	151976833	0.998000	0.40836	0.248000	0.24265	0.258000	0.26162	1.724000	0.38064	0.245000	0.21373	0.383000	0.25322	AGA	XRCC2	-	superfamily_P-loop_NTPase	ENSG00000196584		0.428	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC2	HGNC	protein_coding	OTTHUMT00000322783.1	-	0	55	0	T	NM_005431		152345900	-1	tier1	-	no_errors	ENST00000359321	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	0.996	A	A	152345900	T	A	152345900	4	1	171	1	0	0	0	0	0	1	0	0	17502	1588	55	5	176	5	XRCC2	7	152345900	Nonsense_Mutation	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	383732	152345900	6792763	83	43056											
ADRA1A	148	genome.wustl.edu	37	chr8	26721840	26721840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccagacttgaggcccCggctctccctcttggccacc	5	8	11	17	1	2	3	0	2	2	1	3	3	2	3	6	4	0	1	6	4	0	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr8:26721840C>T	ENST00000519229.1	-	1	653	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	ADRA1A_ENST00000380582.3_Missense_Mutation_p.R216Q|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R216Q|ADRA1A_ENST00000380573.3_Missense_Mutation_p.R216Q|ADRA1A_ENST00000380581.2_Missense_Mutation_p.R216Q|ADRA1A_ENST00000380587.1_Missense_Mutation_p.R216Q|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R216Q|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R216Q|ADRA1A_ENST00000380572.3_Missense_Mutation_p.R216Q|ADRA1A_ENST00000358857.5_Missense_Mutation_p.R216Q			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	286					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)	CTTGAGGCCCCGGCTCTCCCT	0.637																																																	0													35	33	33					8																	26721840		2203	4300	6503	SO:0001583	missense	0			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.647G>A	8.37:g.26721840C>T	ENSP00000430793:p.Arg216Gln		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.R216Q	ENST00000519229.1	37	c.647		8	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833522	0.50951	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.36	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.190531	0.39341	N	0.001393	T	0.36468	0.0968	L	0.61036	1.89	0.38933	D	0.957999	P;B;P;P;B;P	0.42518	0.538;0.334;0.694;0.538;0.087;0.782	B;B;B;B;B;B	0.39379	0.131;0.062;0.223;0.092;0.009;0.298	T	0.25984	-1.0116	10	0.36615	T	0.2	.	7.0437	0.25035	0.0:0.7501:0.0:0.2499	.	216;216;216;216;216;216	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	Q	216	ENSP00000369960:R216Q;ENSP00000369961:R216Q;ENSP00000369956:R216Q;ENSP00000369955:R216Q;ENSP00000430793:R216Q;ENSP00000346557:R216Q;ENSP00000276393:R216Q;ENSP00000369947:R216Q;ENSP00000369946:R216Q;ENSP00000351725:R216Q	ENSP00000276393:R216Q	R	-	2	0	ADRA1A	26777757	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.264000	0.33015	2.649000	0.89929	0.563000	0.77884	CGG	ADRA1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000120907		0.637	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1	-	0	44	0	C	NM_033303		26721840	-1	tier1	-	no_errors	ENST00000380586	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.983	T	T	26721840	C	T	26721840	3	4	171	1	0	0	0	0	1	0	0	0	334	652	23	1	1052	1	ADRA1A	8	26721840	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09		26721840	119642182	84	43057											
XKR4	114786	genome.wustl.edu	37	chr8	56436193	56436193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	atgtcaaggaaggcaggacaCgctgcaggctattcatttac	12	9	11	9	1	2	0	2	0	0	0	2	2	2	2	0	4	2	4	0	4	4	4	rs372636201		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr8:56436193C>T	ENST00000327381.6	+	3	1460	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	454						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGGCAGGACACGCTGCAGGCT	0.448																																																	0													161	154	157					8																	56436193		2203	4300	6503	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1360C>T	8.37:g.56436193C>T	ENSP00000328326:p.Arg454Cys		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.R454C	ENST00000327381.6	37	c.1360	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484853	0.63962	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.70399	-0.48	5.69	4.81	0.61882	.	0.048023	0.85682	D	0.000000	D	0.85066	0.5612	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.87803	0.2626	10	0.87932	D	0	-18.4212	16.6446	0.85173	0.0:0.8699:0.1301:0.0	.	454	Q5GH76	XKR4_HUMAN	C	454	ENSP00000328326:R454C	ENSP00000328326:R454C	R	+	1	0	XKR4	56598747	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.279000	0.58953	1.389000	0.46526	0.655000	0.94253	CGC	XKR4	-	pfam_Transport_prot_XK	ENSG00000206579		0.448	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	-	0	57	0	C	NM_052898		56436193	1	tier1	-	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	29.33	53	22	SNP	1.000	T	T	56436193	C	T	56436193	3	4	171	1	0	0	0	0	1	0	0	0	17482	536	19	1	1370	1	XKR4	8	56436193	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	29714353	56436193	89927829	85	43058											
TRAPPC9	83696	genome.wustl.edu	37	chr8	141461322	141461322	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcggatgtagaggactcGctgggagtcccgcacgctga	8	7	16	10	4	0	2	0	1	0	1	2	5	1	5	1	3	1	5	1	3	2	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr8:141461322G>A	ENST00000438773.2	-	2	284	c.151C>T	c.(151-153)Cga>Tga	p.R51*	TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.R51*|TRAPPC9_ENST00000389328.4_Nonsense_Mutation_p.R149*	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	51					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						TAGAGGACTCGCTGGGAGTCC	0.577																																																	0													57	51	53					8																	141461322		2203	4300	6503	SO:0001587	stop_gained	0			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.151C>T	8.37:g.141461322G>A	ENSP00000405060:p.Arg51*		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Nonsense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.R149*	ENST00000438773.2	37	c.445	CCDS55278.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.286226	0.98742	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.26	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9017	0.63809	0.0735:0.0:0.9265:0.0	.	.	.	.	X	149;51;51	.	ENSP00000373978:R51X	R	-	1	2	TRAPPC9	141530504	1.000000	0.71417	0.980000	0.43619	0.988000	0.76386	6.300000	0.72776	1.210000	0.43336	0.650000	0.86243	CGA	TRAPPC9	-	NULL	ENSG00000167632		0.577	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	-	0	23	0	G	NM_031466		141461322	-1	tier1	-	no_errors	ENST00000389328	ensembl	human	known	74_37	nonsense	46.00	27	23	SNP	1.000	A	A	141461322	G	A	141461322	4	1	171	1	0	0	0	0	0	1	0	0	16513	1095	38	1	3383	1	TRAPPC9	8	141461322	Nonsense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	85025129	141461322	4902700	86	43059											
PIGO	84720	genome.wustl.edu	37	chr9	35092618	35092618	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagctcagcaatcacagtCggcagtgtcgcctcagcccc	8	7	10	16	2	3	0	3	0	0	0	5	0	3	0	3	1	4	4	3	1	1	0			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr9:35092618C>T	ENST00000378617.3	-	7	1660	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	PIGO_ENST00000341666.3_Silent_p.P422P|PIGO_ENST00000298004.5_Silent_p.P422P|PIGO_ENST00000361778.2_Silent_p.P422P|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	422					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)	p.P422P(1)		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)			CAATCACAGTCGGCAGTGTCG	0.607																																																	1	Substitution - coding silent(1)	large_intestine(1)											68	71	70					9																	35092618		2200	4292	6492	SO:0001819	synonymous_variant	0			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.1266G>A	9.37:g.35092618C>T			B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.P422	ENST00000378617.3	37	c.1266	CCDS6575.1	9																																																																																			PIGO	-	NULL	ENSG00000165282		0.607	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1		0	27	0	C	NM_032634		35092618	-1			no_errors	ENST00000341666	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.884	T	T	35092618	C	T	35092618	2	4	171	1	0	0	0	0	0	0	0	1	11933	871	31	1		1	PIGO	9	35092618	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09		35092618	106120813	87	43060											
PTCHD3	374308	genome.wustl.edu	37	chr10	27702567	27702567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcgagacgaaattggcttCggtgctcctcctggaggcgg	8	8	15	10	4	0	1	0	0	0	1	3	4	2	2	2	5	2	2	2	5	2	2	rs201665328	byFrequency	TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr10:27702567C>T	ENST00000438700.3	-	1	730	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	205					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.E205K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AAATTGGCTTCGGTGCTCCTC	0.632													C|||	3	0.000599042	8e-04	0	5008	,	,		18251	0.001		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)											54	57	56					10																	27702567		2203	4300	6503	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.613G>A	10.37:g.27702567C>T	ENSP00000417658:p.Glu205Lys		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.E205K	ENST00000438700.3	37	c.613	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	C	5.699	0.313452	0.10789	.	.	ENSG00000182077	ENST00000438700	D	0.85411	-1.98	3.65	2.74	0.32292	.	0.390448	0.27739	N	0.018051	T	0.77267	0.4105	M	0.61703	1.905	0.09310	N	1	B	0.26975	0.165	B	0.23419	0.046	T	0.58418	-0.7640	10	0.07482	T	0.82	-5.6038	7.3213	0.26529	0.0:0.7915:0.0:0.2085	.	205	Q3KNS1	PTHD3_HUMAN	K	205	ENSP00000417658:E205K	ENSP00000417658:E205K	E	-	1	0	PTCHD3	27742573	0.146000	0.22672	0.001000	0.08648	0.004000	0.04260	2.489000	0.45285	0.742000	0.32697	0.555000	0.69702	GAA	PTCHD3	-	pfam_Patched	ENSG00000182077		0.632	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3		0	20	0	C	XM_370541		27702567	-1			no_errors	ENST00000438700	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.004	T	T	27702567	C	T	27702567	3	4	171	1	0	0	0	0	1	0	0	0	12776	893	31	1	1706	1	PTCHD3	10	27702567	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09		27702567	107832180	88	43061											
ANXA11	311	genome.wustl.edu	37	chr10	81918942	81918943	+	Missense_Mutation	DNP	TC	TC	AA																															ggcctgtcattctctggtacTcattgaaaactatggggatg																										TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr10:81918942_81918943TC>AA	ENST00000438331.1	-	14	1671_1672	c.1189_1190GA>TT	c.(1189-1191)GAg>TTg	p.E397L	ANXA11_ENST00000535999.1_Missense_Mutation_p.E397L|ANXA11_ENST00000360615.4_Missense_Mutation_p.E397L|ANXA11_ENST00000265447.4_Missense_Mutation_p.E397L|ANXA11_ENST00000422982.3_Missense_Mutation_p.E397L|ANXA11_ENST00000537102.1_Missense_Mutation_p.E364L|ANXA11_ENST00000372231.3_Missense_Mutation_p.E397L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	397					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)			TCTCTGGTACTCATTGAAAACT	0.505																																																	0																																										SO:0001583	missense	0			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.1189_1190delinsAA	10.37:g.81918942_81918943delinsAA	ENSP00000398610:p.Glu397Leu		B4DVE7	Missense_Mutation|Nonsense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII	p.E397V|p.E397*	ENST00000438331.1	37	c.1190|c.1189	CCDS7364.1	10																																																																																			ANXA11	-	pfam_Annexin_repeat,smart_Annexin_repeat,prints_AnnexinVII	ENSG00000122359		0.505	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANXA11	HGNC	protein_coding	OTTHUMT00000049044.1	|-	0	28|29	0	T|C	NM_145869		81918942|81918943	-1	|tier1	|-	no_errors	ENST00000265447	ensembl	human	known	74_37	missense|nonsense	10.34|12.90	26|27	3|4	SNP	1.000	A	AA	81918943	TC	AA	81918942	3	1	171	1	0	0	0	0	1	0	0	0	716	1551	54	5	343	5	ANXA11	10	81918942	Missense_Mutation	DNP	TC	TCGA-VR-A8Q7-01A-11D-A37C-09	54216375	81918942	53615805	89	43062											
TACC2	10579	genome.wustl.edu	37	chr10	123987479	123987479	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaatcctcccagaaggagCtggaggccatgggcttgggc	10	6	15	10	0	0	2	0	0	0	2	2	4	2	4	3	5	1	2	3	5	2	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr10:123987479C>T	ENST00000369005.1	+	14	8192	c.7852C>T	c.(7852-7854)Ctg>Ttg	p.L2618L	TACC2_ENST00000369004.3_Silent_p.L708L|TACC2_ENST00000453444.2_Silent_p.L2622L|TACC2_ENST00000358010.1_Silent_p.L764L|TACC2_ENST00000360561.3_Silent_p.L696L|TACC2_ENST00000334433.3_Silent_p.L2618L|TACC2_ENST00000515273.1_Silent_p.L2622L|TACC2_ENST00000369001.1_Silent_p.L322L|TACC2_ENST00000515603.1_Silent_p.L2573L|TACC2_ENST00000368999.1_Silent_p.L708L|TACC2_ENST00000369000.1_Silent_p.L318L|TACC2_ENST00000513429.1_Silent_p.L764L|TACC2_ENST00000260733.3_Silent_p.L696L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2618					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGAAGGAGCTGGAGGCCAT	0.572																																																	0													84	88	86					10																	123987479		2203	4300	6503	SO:0001819	synonymous_variant	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7852C>T	10.37:g.123987479C>T			Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.L2618	ENST00000369005.1	37	c.7852	CCDS7626.1	10																																																																																			TACC2	-	NULL	ENSG00000138162		0.572	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1		0	35	0	C			123987479	1			no_errors	ENST00000334433	ensembl	human	known	74_37	silent	7.89	35	3	SNP	1.000	T	T	123987479	C	T	123987479	2	4	171	1	0	0	0	0	0	0	0	1	15549	796	28	3		3	TACC2	10	123987479	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	42068537	123987479	11547268	90	43063											
KNDC1	85442	genome.wustl.edu	37	chr10	135015007	135015007	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgtctctttctttcaaggaAaagagaagccagccatggcc	11	9	10	11	1	3	1	1	0	2	1	4	3	3	2	3	2	2	0	3	2	4	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr10:135015007A>G	ENST00000304613.3	+	17	3013	c.2992A>G	c.(2992-2994)Aaa>Gaa	p.K998E	KNDC1_ENST00000368571.2_Missense_Mutation_p.K933E|KNDC1_ENST00000368572.2_Missense_Mutation_p.K1000E			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	998					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)		CTTTCAAGGAAAAGAGAAGCC	0.627																																																	0													51	63	59					10																	135015007		2203	4299	6502	SO:0001583	missense	0			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.2992A>G	10.37:g.135015007A>G	ENSP00000304437:p.Lys998Glu		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.K1000E	ENST00000304613.3	37	c.2998	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	A	8.994	0.978368	0.18812	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.12984	2.63;2.63;2.63	4.24	3.09	0.35607	.	0.769026	0.11833	N	0.525011	T	0.14442	0.0349	L	0.57536	1.79	0.23550	N	0.997431	B;B;B	0.33044	0.154;0.395;0.073	B;B;B	0.35470	0.203;0.159;0.046	T	0.22977	-1.0201	10	0.31617	T	0.26	-13.6145	6.1044	0.20065	0.7845:0.0:0.2154:0.0	.	998;933;998	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	E	998;1000;933	ENSP00000304437:K998E;ENSP00000357561:K1000E;ENSP00000357560:K933E	ENSP00000304437:K998E	K	+	1	0	KNDC1	134864997	0.167000	0.22975	0.594000	0.28785	0.276000	0.26787	2.057000	0.41365	0.749000	0.32854	0.260000	0.18958	AAA	KNDC1	-	NULL	ENSG00000171798		0.627	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	-	0	51	0	A	NM_152643		135015007	1	tier1	-	no_errors	ENST00000368572	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.951	G	G	135015007	A	G	135015007	3	3	171	1	0	0	0	0	1	0	0	0	8453	15	1	4	3058	4	KNDC1	10	135015007	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	11027528	135015007	519740	91	43064											
ILK	3611	genome.wustl.edu	37	chr11	6631755	6631755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccctcatgtgtgtaagctCatgaagatctgcatgaatga	11	12	9	9	0	3	4	2	3	1	1	4	4	4	4	2	0	2	3	2	0	3	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr11:6631755C>T	ENST00000396751.2	+	12	1728	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	ILK_ENST00000537806.1_Silent_p.L290L|RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000420936.2_Silent_p.L424L|ILK_ENST00000528995.1_Silent_p.L363L|ILK_ENST00000299421.4_Silent_p.L424L	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	424	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TGTGTAAGCTCATGAAGATCT	0.478																																																	0													97	97	97					11																	6631755		2201	4296	6497	SO:0001819	synonymous_variant	0			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"Ankyrin repeat domain containing"	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.1272C>T	11.37:g.6631755C>T			B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L424	ENST00000396751.2	37	c.1272	CCDS7768.1	11																																																																																			ILK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000166333		0.478	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ILK	HGNC	protein_coding	OTTHUMT00000384519.1	-	0	45	0	C	NM_004517		6631755	1	tier1	-	no_errors	ENST00000299421	ensembl	human	known	74_37	silent	22.73	51	15	SNP	1.000	T	T	6631755	C	T	6631755	2	4	171	1	0	0	0	0	0	0	0	1	7740	813	29	3		3	ILK	11	6631755	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09		6631755	128374761	92	43065											
FAR1	84188	genome.wustl.edu	37	chr11	13729559	13729559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcatatgcctactgtaatCgcaagcatattgatgaagta	14	11	8	8	1	0	2	0	2	0	0	1	2	0	2	1	0	4	5	1	0	7	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr11:13729559C>T	ENST00000354817.3	+	4	622	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	160					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						CTACTGTAATCGCAAGCATAT	0.368																																																	0													156	142	147					11																	13729559		2200	4294	6494	SO:0001583	missense	0			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.478C>T	11.37:g.13729559C>T	ENSP00000346874:p.Arg160Cys		D3DQW8|Q5CZA3	Missense_Mutation	SNP	pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase	p.R160C	ENST00000354817.3	37	c.478	CCDS7813.1	11	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060582	0.76074	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	T;T	0.49720	0.77;0.77	5.73	3.71	0.42584	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.059681	0.64402	D	0.000004	T	0.71400	0.3335	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.967;0.977	T	0.77493	-0.2567	10	0.56958	D	0.05	-7.1875	13.758	0.62948	0.3068:0.6932:0.0:0.0	.	160;160	E7ETC1;Q8WVX9	.;FACR1_HUMAN	C	160	ENSP00000346874:R160C;ENSP00000437111:R160C	ENSP00000346874:R160C	R	+	1	0	FAR1	13686135	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.953000	0.40352	1.348000	0.45733	0.585000	0.79938	CGC	FAR1	-	pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase	ENSG00000197601		0.368	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR1	HGNC	protein_coding	OTTHUMT00000385990.2	-	0	55	0	C	NM_032228		13729559	1	tier1	-	no_errors	ENST00000354817	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	13729559	C	T	13729559	3	4	171	1	0	0	0	0	1	0	0	0	5696	884	31	1	488	1	FAR1	11	13729559	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	7097804	13729559	121276957	93	43066											
MYBPC3	4607	genome.wustl.edu	37	chr11	47362785	47362785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgacgtcgtcaatggtcaGtttgtggaccctgcagggga	7	11	15	8	2	2	1	2	1	0	0	3	3	2	3	1	4	1	2	1	4	1	1	rs397515926		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr11:47362785G>A	ENST00000545968.1	-	19	1855	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L	MYBPC3_ENST00000256993.4_Silent_p.L600L|MYBPC3_ENST00000399249.2_Silent_p.L601L	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	601	Ig-like C2-type 4.				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)		TCAATGGTCAGTTTGTGGACC	0.637																																																	0													28	30	29					11																	47362785		1986	4161	6147	SO:0001819	synonymous_variant	0			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.1801C>T	11.37:g.47362785G>A			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L601	ENST00000545968.1	37	c.1801	CCDS53621.1	11																																																																																			MYBPC3	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000134571		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	-	0	37	0	G			47362785	-1	tier1	-	no_errors	ENST00000399249	ensembl	human	known	74_37	silent	28.57	25	10	SNP	1.000	A	A	47362785	G	A	47362785	2	1	171	1	0	0	0	0	0	0	0	1	10051	1020	36	3		3	MYBPC3	11	47362785	Silent	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	33633226	47362785	87643731	94	43067											
OR5AR1	219493	genome.wustl.edu	37	chr11	56431333	56431333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagacactcagcttcacacaCccatgtattttttcctctgc	9	13	4	15	0	3	1	2	0	1	1	4	1	4	1	2	0	2	2	2	0	1	5			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr11:56431333C>T	ENST00000302969.2	+	1	196	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	58						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						GCTTCACACACCCATGTATTT	0.448																																																	0													288	284	285					11																	56431333		2201	4296	6497	SO:0001583	missense	0			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.172C>T	11.37:g.56431333C>T	ENSP00000302639:p.Pro58Ser		Q6IF61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P58S	ENST00000302969.2	37	c.172	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460246	0.84317	.	.	ENSG00000172459	ENST00000302969	T	0.02015	4.5	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.144556	0.32386	N	0.006172	T	0.18215	0.0437	M	0.92880	3.355	0.47905	D	0.999545	D	0.65815	0.995	D	0.67900	0.954	T	0.01198	-1.1421	10	0.72032	D	0.01	.	18.0183	0.89248	0.0:1.0:0.0:0.0	.	58	Q8NGP9	O5AR1_HUMAN	S	58	ENSP00000302639:P58S	ENSP00000302639:P58S	P	+	1	0	OR5AR1	56187909	0.999000	0.42202	0.998000	0.56505	0.988000	0.76386	4.387000	0.59626	2.738000	0.93877	0.637000	0.83480	CCC	OR5AR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172459		0.448	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	-	0	67	0	C	NM_001004730		56431333	1	tier1	-	no_errors	ENST00000302969	ensembl	human	known	74_37	missense	22.86	54	16	SNP	1.000	T	T	56431333	C	T	56431333	3	4	171	1	0	0	0	0	1	0	0	0	11184	507	18	3	174	3	OR5AR1	11	56431333	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	9068548	56431333	78575183	95	43068											
TUT1	64852	genome.wustl.edu	37	chr11	62346473	62346473	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagccagggccgagtccagCgatggagattctggagcctt	9	7	15	10	2	1	1	0	0	1	1	2	6	2	2	4	3	3	0	4	3	1	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr11:62346473C>T	ENST00000476907.1	-	5	1411	c.720G>A	c.(718-720)tcG>tcA	p.S240S	TUT1_ENST00000308436.7_Silent_p.S278S|MIR3654_ENST00000496634.2_Silent_p.S240S			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	240	Pro-rich.				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						CCGAGTCCAGCGATGGAGATT	0.542																																																	0													30	35	34					11																	62346473		2202	4299	6501	SO:0001819	synonymous_variant	0			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.720G>A	11.37:g.62346473C>T			A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S278	ENST00000476907.1	37	c.834		11																																																																																			TUT1	-	NULL	ENSG00000149016		0.542	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2		0	65	0	C	NM_022830		62346473	-1			no_errors	ENST00000308436	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.506	T	T	62346473	C	T	62346473	2	4	171	1	0	0	0	0	0	0	0	1	16829	755	27	1		1	TUT1	11	62346473	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	5915140	62346473	72660043	96	43069											
CADM1	23705	genome.wustl.edu	37	chr11	115049492	115049492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccttcttcacctgctcggGaatctgttaaaatcagaaga	12	11	8	10	1	4	2	2	0	2	2	5	3	4	3	2	1	2	2	2	1	4	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr11:115049492G>A	ENST00000452722.3	-	9	1102	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	CADM1_ENST00000537058.1_Missense_Mutation_p.S372F|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000542447.2_Missense_Mutation_p.S333F|CADM1_ENST00000331581.6_Missense_Mutation_p.S390F|CADM1_ENST00000536727.1_Missense_Mutation_p.S362F	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ACCTGCTCGGGAATCTGTTAA	0.542																																																	0													76	70	72					11																	115049492		2201	4296	6497	SO:0001583	missense	0			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1082C>T	11.37:g.115049492G>A	ENSP00000395359:p.Ser361Phe			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.S361F	ENST00000452722.3	37	c.1082	CCDS8373.1	11	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849848	0.71603	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	T;T;T;T;T	0.73575	-0.76;-0.08;0.19;-0.11;0.01	5.0	5.0	0.66597	.	0.239499	0.34879	N	0.003601	T	0.80849	0.4702	L	0.46157	1.445	0.58432	D	0.999999	D;D;D;D	0.67145	0.996;0.991;0.99;0.995	P;P;P;P	0.59703	0.8;0.687;0.862;0.829	T	0.81885	-0.0727	10	0.56958	D	0.05	.	18.4828	0.90818	0.0:0.0:1.0:0.0	.	372;334;361;333	F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.;.;CADM1_HUMAN;.	F	333;361;372;362;292;390;46	ENSP00000439176:S333F;ENSP00000395359:S361F;ENSP00000439817:S372F;ENSP00000440322:S362F;ENSP00000329797:S390F	ENSP00000329797:S390F	S	-	2	0	CADM1	114554702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.617000	0.88574	0.655000	0.94253	TCC	CADM1	-	NULL	ENSG00000182985		0.542	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CADM1	HGNC	protein_coding	OTTHUMT00000398753.2	-	0	38	0	G	NM_014333		115049492	-1	tier1	-	no_errors	ENST00000452722	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	A	A	115049492	G	A	115049492	3	1	171	1	0	0	0	0	1	0	0	0	2573	1174	41	3	254	3	CADM1	11	115049492	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	52703019	115049492	19957024	97	43070											
CD3E	916	genome.wustl.edu	37	chr11	118175687	118175687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagtcgggcactcactGgagagttctgggcctctgcc	6	9	14	12	1	3	1	1	0	2	1	4	3	3	1	2	3	2	3	2	3	0	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr11:118175687G>T	ENST00000361763.4	+	2	311	c.20G>T	c.(19-21)tGg>tTg	p.W7L	CD3E_ENST00000528600.1_Missense_Mutation_p.W7L	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	7					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	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;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GGCACTCACTGGAGAGTTCTG	0.502																																																	0													182	189	187					11																	118175687		2200	4296	6496	SO:0001583	missense	0			X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"CD molecules"	1674	protein-coding gene	gene with protein product		186830	"CD3e antigen, epsilon polypeptide (TiT3 complex)"				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.20G>T	11.37:g.118175687G>T	ENSP00000354566:p.Trp7Leu		A8K997	Missense_Mutation	SNP	pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.W7L	ENST00000361763.4	37	c.20	CCDS31685.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.839819	0.97009	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	T	0.51071	0.72	5.29	5.29	0.74685	.	0.638235	0.15411	N	0.263800	T	0.64724	0.2624	M	0.63169	1.94	0.39186	D	0.962874	D;D	0.89917	1.0;0.995	D;P	0.75020	0.985;0.82	T	0.59910	-0.7365	10	0.29301	T	0.29	0.1887	14.7737	0.69699	0.0:0.0:1.0:0.0	.	7;7	B4DVW0;P07766	.;CD3E_HUMAN	L	7	ENSP00000354566:W7L	ENSP00000354566:W7L	W	+	2	0	CD3E	117680897	1.000000	0.71417	0.938000	0.37757	0.920000	0.55202	4.431000	0.59915	2.640000	0.89533	0.557000	0.71058	TGG	CD3E	-	NULL	ENSG00000198851		0.502	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD3E	HGNC	protein_coding	OTTHUMT00000392120.1	-	0	41	0	G	NM_000733		118175687	1	tier1	-	no_errors	ENST00000361763	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.997	T	T	118175687	G	T	118175687	3	4	171	1	0	0	0	0	1	0	0	0	3018	1357	47	3	22	3	CD3E	11	118175687	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	3126195	118175687	16830829	98	43071											
TBCEL	219899	genome.wustl.edu	37	chr11	120930683	120930683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttaacttatagattgcCatcagtttccaaacttaatg	12	16	6	7	0	1	1	1	0	0	1	2	1	2	1	2	1	3	2	2	1	5	7			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr11:120930683C>G	ENST00000529397.1	+	7	945	c.845C>G	c.(844-846)cCa>cGa	p.P282R	TBCEL_ENST00000422003.2_Missense_Mutation_p.P282R	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	282	LRRCT.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TATAGATTGCCATCAGTTTCC	0.328																																																	0													65	61	62					11																	120930683		2201	4297	6498	SO:0001583	missense	0			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"leucine rich repeat containing 35", "tubulin-specific chaperone e-like"	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.845C>G	11.37:g.120930683C>G	ENSP00000437184:p.Pro282Arg		Q0VAN6	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.P282R	ENST00000529397.1	37	c.845	CCDS31692.1	11	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325030	0.81580	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533134;ENST00000533169	T;T;T	0.35048	1.94;1.94;1.33	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.59752	-0.7395	10	0.34782	T	0.22	-38.6485	19.6038	0.95573	0.0:1.0:0.0:0.0	.	282	Q5QJ74	TBCEL_HUMAN	R	282;282;49;85	ENSP00000437184:P282R;ENSP00000403925:P282R;ENSP00000436419:P49R	ENSP00000403925:P282R	P	+	2	0	TBCEL	120435893	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	7.452000	0.80683	2.628000	0.89032	0.460000	0.39030	CCA	TBCEL	-	NULL	ENSG00000154114		0.328	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TBCEL	HGNC	protein_coding	OTTHUMT00000387688.1	-	0	72	0	C	NM_152715		120930683	1	tier1	-	no_errors	ENST00000422003	ensembl	human	known	74_37	missense	23.53	65	20	SNP	1.000	G	G	120930683	C	G	120930683	3	3	171	1	0	0	0	0	1	0	0	0	15682	594	21	5	867	5	TBCEL	11	120930683	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	2754996	120930683	14075833	99	43072											
OR8G5	219865	genome.wustl.edu	37	chr11	124135465	124135465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catccttgtccccagcctgaCcatcctcagctcttacatct	7	12	4	18	0	3	1	1	1	2	0	6	1	6	1	6	0	3	1	6	0	1	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr11:124135465C>T	ENST00000524943.2	+	1	743	c.743C>T	c.(742-744)aCc>aTc	p.T248I	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|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;0.0523)		CCCAGCCTGACCATCCTCAGC	0.448																																					Ovarian(169;523 1969 8640 31295 51256)												0													132	132	132					11																	124135465		2157	4271	6428	SO:0001583	missense	0			BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.743C>T	11.37:g.124135465C>T	ENSP00000477014:p.Thr248Ile		B2RND3|Q6IEU6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T248I	ENST00000524943.2	37	c.743		11																																																																																			OR8G5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000255298		0.448	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	OR8G5	HGNC	protein_coding	OTTHUMT00000387283.2	-	0	98	0	C	NM_001005198		124135465	1	tier1	-	no_errors	ENST00000524943	ensembl	human	known	74_37	missense	25.95	97	34	SNP	0.002	T	T	124135465	C	T	124135465	3	4	171	1	0	0	0	0	1	0	0	0	11275	507	18	3	745	3	OR8G5	11	124135465	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	3204782	124135465	10871051	100	43073											
CLEC4A	50856	genome.wustl.edu	37	chr12	8276480	8276480	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctctcttcccattatgacTtcggaaatcacttatgctga	10	14	6	11	1	2	2	1	2	1	0	5	3	3	3	1	1	2	2	1	1	3	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr12:8276480T>G	ENST00000229332.5	+	1	253	c.6T>G	c.(4-6)acT>acG	p.T2T	CLEC4A_ENST00000352620.3_Silent_p.T2T|CLEC4A_ENST00000360500.3_Silent_p.T2T|CLEC4A_ENST00000345999.3_Silent_p.T2T	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	2					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CCATTATGACTTCGGAAATCA	0.383																																																	0													72	64	67					12																	8276480		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"C-type lectin domain containing"	13257	protein-coding gene	gene with protein product		605306	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.6T>G	12.37:g.8276480T>G			Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.T2	ENST00000229332.5	37	c.6	CCDS8590.1	12																																																																																			CLEC4A	-	NULL	ENSG00000111729		0.383	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4A	HGNC	protein_coding	OTTHUMT00000400257.1	-	0	37	0	T	NM_194450		8276480	1	tier1	-	no_errors	ENST00000229332	ensembl	human	known	74_37	silent	60.00	18	27	SNP	0.001	G	G	8276480	T	G	8276480	2	3	171	1	0	0	0	0	0	0	0	1	3519	1596	56	4		4	CLEC4A	12	8276480	Silent	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09		8276480	125575415	101	43074											
SLCO1A2	6579	genome.wustl.edu	37	chr12	21447016	21447016	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcaatcagcaaagatgtCattttccacatataaatctt	15	14	4	8	0	3	1	2	0	1	1	4	1	4	1	1	0	2	2	1	0	5	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr12:21447016C>G	ENST00000307378.6	-	12	2020	c.1300G>C	c.(1300-1302)Gac>Cac	p.D434H	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.D302H|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.D432H|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.D302H|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.D434H	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	434	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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)	GCAAAGATGTCATTTTCCACA	0.343																																																	0													62	57	58					12																	21447016		2203	4300	6503	SO:0001583	missense	0				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.1300G>C	12.37:g.21447016C>G	ENSP00000305974:p.Asp434His		Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.D434H	ENST00000307378.6	37	c.1300	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	C	6.068	0.380950	0.11466	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	3.79	-4.27	0.03744	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.300840	0.01481	N	0.016666	T	0.49762	0.1576	L	0.36672	1.1	0.09310	N	1	B;B	0.30542	0.051;0.284	B;B	0.30029	0.015;0.11	T	0.41106	-0.9527	10	0.56958	D	0.05	.	5.7358	0.18065	0.1277:0.3901:0.0:0.4822	.	432;434	P46721-2;P46721	.;SO1A2_HUMAN	H	434;434;302;302;432	ENSP00000305974:D434H;ENSP00000393973:D434H;ENSP00000394854:D302H;ENSP00000439401:D302H;ENSP00000375088:D432H	ENSP00000305974:D434H	D	-	1	0	SLCO1A2	21338283	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.062000	0.14389	-1.136000	0.02892	-1.222000	0.01597	GAC	SLCO1A2	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000084453		0.343	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	-	0	47	0	C	NM_021094		21447016	-1	tier1	-	no_errors	ENST00000307378	ensembl	human	known	74_37	missense	51.43	17	18	SNP	0.000	G	G	21447016	C	G	21447016	3	3	171	1	0	0	0	0	1	0	0	0	14767	826	29	5	732	5	SLCO1A2	12	21447016	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	13170536	21447016	112404879	102	43075											
CNOT2	4848	genome.wustl.edu	37	chr12	70738008	70738008	+	Splice_Site	SNP	T	T	C	0	1	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	acttttagctgcagtggagcTgtatgttcaaagtattttaa	11	16	9	5	0	1	0	1	0	0	0	1	1	1	1	0	1	3	6	0	1	5	7			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr12:70738008T>C	ENST00000418359.3	+	15	1842	c.1391T>C	c.(1390-1392)cTt>cCt	p.L464P	CNOT2_ENST00000551483.1_Splice_Site_p.L115P|CNOT2_ENST00000229195.3_Splice_Site_p.L464P	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	464	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCAGTGGAGCTGTATGTTCAA	0.353																																																	0													124	128	127					12																	70738008		2203	4300	6503	SO:0001630	splice_region_variant	0			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.1391+1T>C	12.37:g.70738008T>C			Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	pfam_NOT	p.L464P	ENST00000418359.3	37	c.1391	CCDS31857.1	12	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593613	0.86953	.	.	ENSG00000111596	ENST00000229195;ENST00000418359;ENST00000548159;ENST00000551043;ENST00000551483;ENST00000551710	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.35	5.35	0.76521	NOT2/NOT3/NOT5 (1);	0.000000	0.85682	D	0.000000	D	0.91106	0.7200	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94198	0.7447	10	0.87932	D	0	-5.9026	15.6317	0.76917	0.0:0.0:0.0:1.0	.	464;464	Q9NZN8-4;Q9NZN8	.;CNOT2_HUMAN	P	464;464;455;464;115;47	ENSP00000229195:L464P;ENSP00000412091:L464P;ENSP00000449659:L455P;ENSP00000449260:L464P;ENSP00000448883:L115P;ENSP00000447808:L47P	ENSP00000229195:L464P	L	+	2	0	CNOT2	69024275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.140000	0.66376	0.533000	0.62120	CTT	CNOT2	-	pfam_NOT	ENSG00000111596		0.353	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT2	HGNC	protein_coding	OTTHUMT00000404260.1	-	0	46	0	T		Missense_Mutation	70738008	1	tier1	-	no_errors	ENST00000229195	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	C	C	70738008	T	C	70738008	5	2	171	1	0	0	0	0	0	0	1	0	3626	1594	55	4	1441	4	CNOT2	12	70738008	Splice_Site	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	49290992	70738008	63113887	103	43076											
NAV3	89795	genome.wustl.edu	37	chr12	78392116	78392116	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttcttatactatttcaGgcttccagggccctctaggg	7	16	8	10	0	3	0	1	0	2	0	4	0	4	0	2	3	1	1	2	3	4	8			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr12:78392116G>T	ENST00000397909.2	+	7	913		c.e7-1		NAV3_ENST00000266692.7_Splice_Site|NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000536525.2_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						TACTATTTCAGGCTTCCAGGG	0.408										HNSCC(70;0.22)																																							0													35	33	34					12																	78392116		1818	4082	5900	SO:0001630	splice_region_variant	0			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.741-1G>T	12.37:g.78392116G>T			Q8NFW7|Q9Y2E7	Splice_Site	SNP	-	e7-1	ENST00000397909.2	37	c.741-1		12	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520397	0.85495	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000550503	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5543	0.95335	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAV3	76916247	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.221000	0.95188	2.617000	0.88574	0.655000	0.94253	.	NAV3	-	-	ENSG00000067798		0.408	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	27	0	G	NM_001024383	Intron	78392116	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	splice_site	42.42	19	14	SNP	1.000	T	T	78392116	G	T	78392116	5	4	171	1	0	0	0	0	0	0	1	0	10223	1014	35	3	766	3	NAV3	12	78392116	Splice_Site	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	7654108	78392116	55459779	104	43077											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85492759	85492759	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttactacaaaatattactAtctctcaaaacaggtaaaag	18	12	3	8	0	2	0	1	0	1	0	3	0	2	0	0	1	4	1	0	1	11	7			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr12:85492759A>T	ENST00000393217.2	+	13	3257	c.3196A>T	c.(3196-3198)Atc>Ttc	p.I1066F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1066										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAATATTACTATCTCTCAAAA	0.289																																																	0													70	71	70					12																	85492759		2203	4295	6498	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3196A>T	12.37:g.85492759A>T	ENSP00000376910:p.Ile1066Phe		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.I1066F	ENST00000393217.2	37	c.3196	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	A	3.429	-0.116461	0.06838	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.60797	0.16	5.39	-10.8	0.00216	.	0.650315	0.14654	N	0.306411	T	0.46367	0.1389	L	0.43554	1.36	0.09310	N	1	B;B	0.30455	0.28;0.188	B;B	0.33799	0.049;0.17	T	0.54351	-0.8307	10	0.40728	T	0.16	.	18.8974	0.92429	0.0896:0.7625:0.1478:0.0	.	1066;1041	Q96JM4;C9JI57	LRIQ1_HUMAN;.	F	1066;1041;1066	ENSP00000376910:I1066F	ENSP00000256007:I1066F	I	+	1	0	LRRIQ1	84016890	0.000000	0.05858	0.001000	0.08648	0.245000	0.25701	-2.349000	0.01093	-4.098000	0.00074	-3.811000	0.00019	ATC	LRRIQ1	-	NULL	ENSG00000133640		0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	34	0	A	NM_032165		85492759	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	12.90	54	8	SNP	0.000	T	T	85492759	A	T	85492759	3	4	171	1	0	0	0	0	1	0	0	0	9064	449	16	5	3242	5	LRRIQ1	12	85492759	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	7100643	85492759	48359136	105	43078											
C12orf50	160419	genome.wustl.edu	37	chr12	88388500	88388500	+	Missense_Mutation	SNP	T	T	A	0	1	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	ttcatattggctaagttttgTcggaactgtaagactatctc	10	16	8	7	1	2	1	1	0	1	1	4	2	2	2	0	2	1	3	0	2	5	8			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr12:88388500T>A	ENST00000298699.2	-	7	682	c.502A>T	c.(502-504)Aca>Tca	p.T168S	C12orf50_ENST00000550553.1_Missense_Mutation_p.T168S	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	168										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTAAGTTTTGTCGGAACTGTA	0.328																																																	0													142	129	133					12																	88388500		2202	4299	6501	SO:0001583	missense	0			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.502A>T	12.37:g.88388500T>A	ENSP00000298699:p.Thr168Ser		Q6P674	Missense_Mutation	SNP	NULL	p.T168S	ENST00000298699.2	37	c.502	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	T	12.71	2.020408	0.35606	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.33654	1.4;1.41	5.01	3.77	0.43336	.	0.097230	0.45361	D	0.000376	T	0.29389	0.0732	M	0.63428	1.95	0.30351	N	0.784773	P;P	0.40970	0.734;0.734	B;B	0.35470	0.203;0.203	T	0.29579	-1.0007	10	0.32370	T	0.25	.	7.5873	0.27999	0.2766:0.0:0.0:0.7234	.	222;168	G3V208;Q8NA57	.;CL050_HUMAN	S	168;168;222	ENSP00000298699:T168S;ENSP00000448344:T168S	ENSP00000298699:T168S	T	-	1	0	C12orf50	86912631	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.167000	0.31847	2.012000	0.59069	0.528000	0.53228	ACA	C12orf50	-	NULL	ENSG00000165805		0.328	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1	-	0	67	0	T	NM_152589		88388500	-1	tier1	-	no_errors	ENST00000298699	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	88388500	T	A	88388500	3	1	171	1	0	0	0	0	1	0	0	0	1700	1667	58	5	770	5	C12orf50	12	88388500	Missense_Mutation	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	2895741	88388500	45463395	106	43079											
ACACB	32	genome.wustl.edu	37	chr12	109610096	109610096	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcggtgtgggctggctGgggccatgcttcagaaaacc	7	7	17	10	1	1	1	1	0	0	1	1	1	1	1	2	6	2	4	2	6	2	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr12:109610096G>A	ENST00000338432.7	+	6	1171	c.1052G>A	c.(1051-1053)tGg>tAg	p.W351*	ACACB_ENST00000377848.3_Nonsense_Mutation_p.W351*|ACACB_ENST00000377854.5_Nonsense_Mutation_p.W351*			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	351	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.W351*(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGGGCTGGCTGGGGCCATGCT	0.517																																																	1	Substitution - Nonsense(1)	skin(1)											224	244	237					12																	109610096		2203	4300	6503	SO:0001587	stop_gained	0			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.1052G>A	12.37:g.109610096G>A	ENSP00000341044:p.Trp351*		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Nonsense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.W351*	ENST00000338432.7	37	c.1052	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.210061	0.95069	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7639	0.91864	0.0:0.0:1.0:0.0	.	.	.	.	X	351	.	ENSP00000341044:W351X	W	+	2	0	ACACB	108094479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.957000	0.87870	2.607000	0.88179	0.655000	0.94253	TGG	ACACB	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pfscan_Biotin_carboxylation_dom	ENSG00000076555		0.517	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0	51	0	G	NM_001093		109610096	1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	A	A	109610096	G	A	109610096	4	1	171	1	0	0	0	0	0	1	0	0	107	1357	47	3	1070	3	ACACB	12	109610096	Nonsense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	21221596	109610096	24241799	107	43080											
SACS	26278	genome.wustl.edu	37	chr13	23915230	23915230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagaagaatggttaatgcGcttgaatattgccaattctt	13	14	8	6	1	2	3	1	1	1	2	2	3	2	3	1	1	2	2	1	1	6	6	rs373613604		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr13:23915230G>A	ENST00000382292.3	-	9	3058	c.2785C>T	c.(2785-2787)Cgc>Tgc	p.R929C	SACS_ENST00000402364.1_Missense_Mutation_p.R179C|SACS_ENST00000382298.3_Missense_Mutation_p.R929C			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	929					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)		TGGTTAATGCGCTTGAATATT	0.393																																																	0								G	CYS/ARG	0,4406		0,0,2203	118	117	117		2785	2.9	0.9	13		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	SACS	NM_014363.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	929/4580	23915230	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2785C>T	13.37:g.23915230G>A	ENSP00000371729:p.Arg929Cys		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.R929C	ENST00000382292.3	37	c.2785	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670955	0.67814	0.0	1.16E-4	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87491	-2.11;-2.26;-2.11	6.05	2.93	0.34026	.	0.121425	0.53938	D	0.000058	T	0.76758	0.4032	N	0.24115	0.695	0.35915	D	0.8314	D	0.53151	0.958	B	0.36989	0.238	T	0.81927	-0.0709	10	0.62326	D	0.03	.	14.202	0.65710	0.0:0.0:0.274:0.726	.	929	Q9NZJ4	SACS_HUMAN	C	929;179;929	ENSP00000371729:R929C;ENSP00000385844:R179C;ENSP00000371735:R929C	ENSP00000371729:R929C	R	-	1	0	SACS	22813230	1.000000	0.71417	0.927000	0.36925	0.819000	0.46315	4.343000	0.59348	0.790000	0.33803	0.650000	0.86243	CGC	SACS	-	NULL	ENSG00000151835		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	39	0	G	NM_014363		23915230	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	27.27	32	12	SNP	0.995	A	A	23915230	G	A	23915230	3	1	171	1	0	0	0	0	1	0	0	0	13849	1087	38	1	10958	1	SACS	13	23915230	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09		23915230	91254648	108	43081											
PARP4	143	genome.wustl.edu	37	chr13	25016071	25016072	+	Frame_Shift_Del	DEL	TT	TT	-																															ttggcaataagttcagaaacTtttggaatatcaggaaaagg																										TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr13:25016071_25016072delTT	ENST00000381989.3	-	30	3683_3684	c.3578_3579delAA	c.(3577-3579)aaafs	p.K1193fs		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1193					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTTCAGAAACTTTTGGAATATC	0.401																																																	0																																										SO:0001589	frameshift_variant	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3578_3579delAA	13.37:g.25016073_25016074delTT	ENSP00000371419:p.Lys1193fs		O75903|Q14682|Q5QNZ9|Q9H1M6	Frame_Shift_Del	DEL	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.K1193fs	ENST00000381989.3	37	c.3579_3578	CCDS9307.1	13																																																																																			PARP4	-	NULL	ENSG00000102699		0.401	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1		0	42	0	TT	NM_006437		25016072	-1	tier1		no_errors	ENST00000381989	ensembl	human	known	74_37	frame_shift_del	13.89	31	5	DEL	0.338:0.838	-	-	25016072	TT	-	25016071	7	5	171	1	0	1	0	1	0	0	0	0	11502	1606	56	0	1615	0	PARP4	13	25016071	Frame_Shift_Del	DEL	TT	TCGA-VR-A8Q7-01A-11D-A37C-09	1100841	25016071	90153807	109	43082											
CENPJ	55835	genome.wustl.edu	37	chr13	25480757	25480757	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttccccgtctgtattttCaatcctgacggagaaagact	9	14	7	11	2	3	3	1	1	2	2	5	4	5	3	3	1	0	1	3	1	3	5			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr13:25480757C>T	ENST00000381884.4	-	7	1604	c.1419G>A	c.(1417-1419)ttG>ttA	p.L473L	CENPJ_ENST00000545981.1_Silent_p.L473L	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	473					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)		TCTGTATTTTCAATCCTGACG	0.398																																																	0													82	86	85					13																	25480757		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1419G>A	13.37:g.25480757C>T			Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Silent	SNP	pfam_Tcp10_C_dom	p.L473	ENST00000381884.4	37	c.1419	CCDS9310.1	13																																																																																			CENPJ	-	NULL	ENSG00000151849		0.398	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPJ	HGNC	protein_coding	OTTHUMT00000044209.1		0	32	0	C	NM_018451		25480757	-1			no_errors	ENST00000381884	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.017	T	T	25480757	C	T	25480757	2	4	171	1	0	0	0	0	0	0	0	1	3241	825	29	3		3	CENPJ	13	25480757	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	464686	25480757	89689121	110	43083											
FREM2	341640	genome.wustl.edu	37	chr13	39452315	39452315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggatcctgtccagaatCtgggtgactccttttactgc	6	14	11	10	0	1	2	0	1	1	1	4	3	4	3	3	3	2	0	3	3	2	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr13:39452315C>A	ENST00000280481.7	+	22	8932	c.8716C>A	c.(8716-8718)Ctg>Atg	p.L2906M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2906					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)		TGTCCAGAATCTGGGTGACTC	0.403																																																	0													228	196	207					13																	39452315		2203	4300	6503	SO:0001583	missense	0			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.8716C>A	13.37:g.39452315C>A	ENSP00000280481:p.Leu2906Met		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.L2906M	ENST00000280481.7	37	c.8716	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589576	0.66105	.	.	ENSG00000150893	ENST00000280481	T	0.67345	-0.26	6.08	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.82595	0.5071	M	0.88842	2.985	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	D	0.84890	0.0836	10	0.87932	D	0	.	9.3161	0.37934	0.0:0.7423:0.0:0.2577	.	2906	Q5SZK8	FREM2_HUMAN	M	2906	ENSP00000280481:L2906M	ENSP00000280481:L2906M	L	+	1	2	FREM2	38350315	0.979000	0.34478	0.840000	0.33206	0.901000	0.52897	1.331000	0.33793	1.594000	0.50039	-0.218000	0.12543	CTG	FREM2	-	NULL	ENSG00000150893		0.403	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	54	0	C	NM_207361		39452315	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	5.13	73	4	SNP	1.000	A	A	39452315	C	A	39452315	3	1	171	1	0	0	0	0	1	0	0	0	6069	912	32	3	8802	3	FREM2	13	39452315	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	13971558	39452315	75717563	111	43084											
EPSTI1	94240	genome.wustl.edu	37	chr13	43537397	43537397	+	Silent	SNP	T	T	C	0	1	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	ctcctcctccttaccttctcTctctgaattgccttcatttt	4	19	2	16	0	3	1	1	1	2	0	8	1	6	1	5	0	2	0	5	0	2	6	rs150771459		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr13:43537397T>C	ENST00000398762.3	-	5	482	c.483A>G	c.(481-483)agA>agG	p.R161R	EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313640.7_Silent_p.R161R|EPSTI1_ENST00000313624.7_Silent_p.R161R			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	161										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)		TTACCTTCTCTCTCTGAATTG	0.313																																																	0								T	,	0,4406		0,0,2203	202	194	197		483,483	4.1	1	13	dbSNP_134	197	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	EPSTI1	NM_001002264.1,NM_033255.2	,	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	,	161/411,161/308	43537397	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			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.483A>G	13.37:g.43537397T>C			Q8IVC7|Q8NDQ7	Silent	SNP	NULL	p.R161	ENST00000398762.3	37	c.483	CCDS9387.1	13																																																																																			EPSTI1	-	NULL	ENSG00000133106		0.313	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	EPSTI1	HGNC	protein_coding	OTTHUMT00000400321.1	-	0	85	0	T	NM_001002264		43537397	-1	tier1	rs150771459	no_errors	ENST00000313640	ensembl	human	known	74_37	silent	12.00	66	9	SNP	1.000	C	C	43537397	T	C	43537397	2	2	171	1	0	0	0	0	0	0	0	1	5214	1548	54	4		4	EPSTI1	13	43537397	Silent	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	4085082	43537397	71632481	112	43085											
DZIP1	22873	genome.wustl.edu	37	chr13	96282275	96282275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgcactggcatggtgtgCagcctctagctcagacctgg	7	9	13	12	0	2	1	1	0	1	1	2	2	2	1	2	3	4	4	2	3	1	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr13:96282275C>T	ENST00000376829.2	-	7	1629	c.778G>A	c.(778-780)Gca>Aca	p.A260T	DZIP1_ENST00000361396.2_Missense_Mutation_p.A260T|DZIP1_ENST00000361156.3_Missense_Mutation_p.A260T|DZIP1_ENST00000347108.3_Missense_Mutation_p.A260T	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	260					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)			GCATGGTGTGCAGCCTCTAGC	0.443																																																	0													102	81	88					13																	96282275		2203	4300	6503	SO:0001583	missense	0			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.778G>A	13.37:g.96282275C>T	ENSP00000366025:p.Ala260Thr		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A260T	ENST00000376829.2	37	c.778	CCDS9478.1	13	.	.	.	.	.	.	.	.	.	.	C	9.695	1.152958	0.21371	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.24	3.47	0.39725	.	0.380726	0.28748	N	0.014272	T	0.34513	0.0900	L	0.51422	1.61	0.09310	N	1	B;P;P	0.39424	0.391;0.673;0.544	B;B;B	0.33960	0.086;0.173;0.084	T	0.09796	-1.0658	10	0.38643	T	0.18	-5.6257	12.8558	0.57884	0.2955:0.7045:0.0:0.0	.	260;260;260	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	T	260	ENSP00000257312:A260T;ENSP00000355018:A260T;ENSP00000355175:A260T;ENSP00000366025:A260T	ENSP00000257312:A260T	A	-	1	0	DZIP1	95080276	0.652000	0.27349	0.063000	0.19743	0.023000	0.10783	1.869000	0.39519	0.559000	0.29153	0.561000	0.74099	GCA	DZIP1	-	NULL	ENSG00000134874		0.443	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	HGNC	protein_coding	OTTHUMT00000045496.3	-	0	43	0	C	NM_014934		96282275	-1	tier1	-	no_errors	ENST00000347108	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.262	T	T	96282275	C	T	96282275	3	4	171	1	0	0	0	0	1	0	0	0	4877	710	25	3	1893	3	DZIP1	13	96282275	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	52744878	96282275	18887603	113	43086											
FARP1	10160	genome.wustl.edu	37	chr13	99083388	99083388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggctggagaacttctgcaGagactttgagctgcagaagg	10	8	15	8	1	1	4	0	1	1	3	1	6	1	4	0	3	4	4	0	3	2	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr13:99083388G>C	ENST00000319562.6	+	18	2262	c.1997G>C	c.(1996-1998)aGa>aCa	p.R666T	FARP1_ENST00000376586.2_Missense_Mutation_p.R666T|FARP1_ENST00000595437.1_Missense_Mutation_p.R666T	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	666	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AACTTCTGCAGAGACTTTGAG	0.612																																																	0													43	45	44					13																	99083388		2203	4300	6503	SO:0001583	missense	0			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.1997G>C	13.37:g.99083388G>C	ENSP00000322926:p.Arg666Thr		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R666T	ENST00000319562.6	37	c.1997	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216234	0.58452	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.62941	-0.01;-0.01	5.72	5.72	0.89469	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.79191	0.4404	M	0.71206	2.165	0.58432	D	0.999998	D;D	0.60575	0.986;0.988	P;D	0.66979	0.899;0.948	T	0.80341	-0.1423	10	0.87932	D	0	.	19.8737	0.96861	0.0:0.0:1.0:0.0	.	666;666	Q9Y4F1;C9JME2	FARP1_HUMAN;.	T	666	ENSP00000365771:R666T;ENSP00000322926:R666T	ENSP00000322926:R666T	R	+	2	0	FARP1	97881389	0.956000	0.32656	0.055000	0.19348	0.025000	0.11179	5.320000	0.65841	2.693000	0.91896	0.650000	0.86243	AGA	FARP1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000152767		0.612	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	-	0	36	0	G	NM_005766		99083388	1	tier1	-	no_errors	ENST00000376586	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.733	C	C	99083388	G	C	99083388	3	2	171	1	0	0	0	0	1	0	0	0	5698	942	33	5	2286	5	FARP1	13	99083388	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	2801113	99083388	16086490	114	43087											
COL4A2	1284	genome.wustl.edu	37	chr13	111077333	111077333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctggattccctggtgccGatggaattcctgtaagtttt	6	17	10	8	1	1	0	0	0	1	0	3	3	3	2	3	3	1	2	3	3	2	6	rs374976511		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr13:111077333G>A	ENST00000360467.5	+	6	655	c.349G>A	c.(349-351)Gat>Aat	p.D117N		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	117					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.D117N(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)			CCCTGGTGCCGATGGAATTCC	0.433																																																	1	Substitution - Missense(1)	urinary_tract(1)						G	ASN/ASP	0,3796		0,0,1898	132	131	132		349	5.2	1	13		132	1,8241		0,1,4120	no	missense	COL4A2	NM_001846.2	23	0,1,6018	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	117/1713	111077333	1,12037	1898	4121	6019	SO:0001583	missense	0			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.349G>A	13.37:g.111077333G>A	ENSP00000353654:p.Asp117Asn		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.D117N	ENST00000360467.5	37	c.349	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431376	0.43122	0.0	1.21E-4	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.94232	-3.38	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000035	D	0.92971	0.7763	L	0.28054	0.825	0.54753	D	0.999988	D	0.63046	0.992	P	0.60068	0.868	D	0.90767	0.4669	10	0.17832	T	0.49	.	18.7701	0.91888	0.0:0.0:1.0:0.0	.	117	P08572	CO4A2_HUMAN	N	117	ENSP00000353654:D117N	ENSP00000257309:D117N	D	+	1	0	COL4A2	109875334	0.990000	0.36364	0.988000	0.46212	0.987000	0.75469	3.690000	0.54713	2.431000	0.82371	0.650000	0.86243	GAT	COL4A2	-	pfam_Collagen	ENSG00000134871		0.433	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2		0	74	0	G	NM_001846		111077333	1			no_errors	ENST00000360467	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.998	A	A	111077333	G	A	111077333	3	1	171	1	0	0	0	0	1	0	0	0	3697	1058	37	1	367	1	COL4A2	13	111077333	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	11993945	111077333	4092545	115	43088											
SRP54	6729	genome.wustl.edu	37	chr14	35483965	35483965	+	Missense_Mutation	SNP	A	A	G	1	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	tataggtatgggcgacattgAaggactgatagataaagtca	15	10	12	4	1	1	3	1	2	0	1	1	5	1	4	0	3	0	1	0	3	7	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr14:35483965A>G	ENST00000556994.1	+	12	1299	c.902A>G	c.(901-903)gAa>gGa	p.E301G	SRP54_ENST00000555557.1_Missense_Mutation_p.E237G|SRP54_ENST00000546080.1_Missense_Mutation_p.E252G|SRP54_ENST00000216774.6_Missense_Mutation_p.E301G			P61011	SRP54_HUMAN	signal recognition particle 54kDa	301	M-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GGCGACATTGAAGGACTGATA	0.328																																																	0													141	140	140					14																	35483965		2203	4299	6502	SO:0001583	missense	0			X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.902A>G	14.37:g.35483965A>G	ENSP00000451818:p.Glu301Gly		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk	p.E301G	ENST00000556994.1	37	c.902	CCDS9652.1	14	.	.	.	.	.	.	.	.	.	.	A	17.25	3.341891	0.61073	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.85	5.85	0.93711	Signal recognition particle, SRP54 subunit, M-domain (1);	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	L	0.45352	1.415	0.80722	D	1	B;B	0.20052	0.041;0.041	B;B	0.19666	0.026;0.018	T	0.50508	-0.8820	9	0.25106	T	0.35	-28.2414	16.2317	0.82347	1.0:0.0:0.0:0.0	.	252;301	B4DUW6;P61011	.;SRP54_HUMAN	G	301;301;252;237	.	ENSP00000216774:E301G	E	+	2	0	SRP54	34553716	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.943000	0.92975	2.237000	0.73441	0.528000	0.53228	GAA	SRP54	-	superfamily_Signal_recog_particle_SRP54_M,tigrfam_SRP54_euk	ENSG00000100883		0.328	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP54	HGNC	protein_coding	OTTHUMT00000276643.2	-	0	42	0	A	NM_003136		35483965	1	tier1	-	no_errors	ENST00000216774	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	G	G	35483965	A	G	35483965	3	3	171	1	0	0	0	0	1	0	0	0	15202	246	9	4	940	4	SRP54	14	35483965	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09		35483965	71865575	116	43089											
EXD2	55218	genome.wustl.edu	37	chr14	69701736	69701736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaaagcctctgggggtggGctattctgccaggtaactga	10	9	14	8	0	2	2	0	1	2	1	2	2	2	2	2	4	3	2	2	4	4	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr14:69701736G>A	ENST00000409018.3	+	5	1165	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	EXD2_ENST00000409949.1_Missense_Mutation_p.G221D|EXD2_ENST00000409014.1_Missense_Mutation_p.G221D|EXD2_ENST00000449989.1_Missense_Mutation_p.G221D|EXD2_ENST00000312994.5_Missense_Mutation_p.G346D|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409242.1_Missense_Mutation_p.G221D|EXD2_ENST00000409675.1_Missense_Mutation_p.G221D	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	346							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CTGGGGGTGGGCTATTCTGCC	0.517																																																	0													23	29	27					14																	69701736		2203	4299	6502	SO:0001583	missense	0			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1037G>A	14.37:g.69701736G>A	ENSP00000387331:p.Gly346Asp		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.G346D	ENST00000409018.3	37	c.1037	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513548	0.85389	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.63417	0.34;-0.04;-0.04;-0.04;-0.04;0.34;-0.04	5.56	5.56	0.83823	.	0.046204	0.85682	D	0.000000	T	0.76800	0.4038	M	0.73598	2.24	0.80722	D	1	P;P;P	0.46859	0.876;0.885;0.885	P;B;B	0.56474	0.799;0.443;0.443	T	0.74481	-0.3651	10	0.39692	T	0.17	-9.9255	19.9029	0.96995	0.0:0.0:1.0:0.0	.	346;221;221	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	D	346;221;221;221;221;346;221	ENSP00000387331:G346D;ENSP00000386915:G221D;ENSP00000386762:G221D;ENSP00000386632:G221D;ENSP00000386839:G221D;ENSP00000313140:G346D;ENSP00000392177:G221D	ENSP00000313140:G346D	G	+	2	0	EXD2	68771489	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.578000	0.82498	2.776000	0.95493	0.650000	0.86243	GGC	EXD2	-	NULL	ENSG00000081177		0.517	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	-	0	37	0	G			69701736	1	tier1	-	no_errors	ENST00000312994	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	69701736	G	A	69701736	3	1	171	1	0	0	0	0	1	0	0	0	5314	1203	42	3	672	3	EXD2	14	69701736	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	34217771	69701736	37647804	117	43090											
TMED10	10972	genome.wustl.edu	37	chr14	75601711	75601712	+	Splice_Site	INS	-	-	A																															cccgagtgtttgttgactctINSaaaaaaaaacaaaagcattg																								rs200389497	byFrequency	TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426																																																	0																																										SO:0001630	splice_region_variant	0			AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.539-2->T	14.37:g.75601720_75601720dupA			B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS	-	e5-2	ENST00000303575.4	37	c.539-3_539-2	CCDS9840.1	14																																																																																			TMED10	-	-	ENSG00000170348		0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED10	HGNC	protein_coding	OTTHUMT00000415034.1		0	35	0	-	NM_006827	Intron	75601712	-1	tier1		no_errors	ENST00000303575	ensembl	human	known	74_37	splice_site_ins	11.11	32	4	INS	1.000:0.961	A	A	75601712	-	A	75601711	8	5	171	1	0	1	1	0	0	0	1	0	16050	1536	53	0	126	0	TMED10	14	75601711	Splice_Site	INS	-	TCGA-VR-A8Q7-01A-11D-A37C-09	5899975	75601711	31747829	118	43091											
NRXN3	9369	genome.wustl.edu	37	chr14	80158529	80158529	+	Intron	SNP	T	T	C	0	1	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	tttaaaggcaacactgataaTgaacgcttccaaatggtaaa	17	10	7	7	1	0	2	0	2	0	0	1	2	1	2	1	2	2	3	1	2	8	5			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr14:80158529T>C	ENST00000557594.1	+	4	1554				NRXN3_ENST00000281127.7_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Silent_p.N205N|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000556003.1_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3						adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACACTGATAATGAACGCTTCC	0.328																																																	0													58	55	56					14																	80158529		1803	4074	5877	SO:0001627	intron_variant	0			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		ENST00000557594.1:c.602-5444T>C	14.37:g.80158529T>C			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.N1199	ENST00000557594.1	37	c.3597		14																																																																																			NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.328	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	-	0	39	0	T	NM_001105250		80158529	1	tier1	-	no_errors	ENST00000554738	ensembl	human	known	74_37	silent	50.00	11	11	SNP	1.000	C	C	80158529	T	C	80158529	1	2	171	0	1	0	0	0	0	0	0	0	10706	1461	51	4		4	NRXN3	14	80158529	Intron	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	4556818	80158529	27191011	119	43092											
TC2N	123036	genome.wustl.edu	37	chr14	92251624	92251624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctctccccacttgactcttCcattggaggccttcagtaag	7	13	7	14	0	3	1	1	1	2	0	6	2	5	2	4	2	0	1	4	2	1	5			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr14:92251624C>T	ENST00000435962.2	-	11	1567	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	TC2N_ENST00000360594.5_Missense_Mutation_p.G415E|TC2N_ENST00000556018.1_Missense_Mutation_p.G351E|TC2N_ENST00000340892.5_Missense_Mutation_p.G415E	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	415	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CTTGACTCTTCCATTGGAGGC	0.358																																																	0													187	204	198					14																	92251624		2203	4300	6503	SO:0001583	missense	0			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"C2 calcium-dependent domain containing 1"		"chromosome 14 open reading frame 47", "membrane targeting (tandem) C2 domain containing 1"	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1244G>A	14.37:g.92251624C>T	ENSP00000387882:p.Gly415Glu			Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.G415E	ENST00000435962.2	37	c.1244	CCDS9897.1	14	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334535	0.81801	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018;ENST00000556590	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.5	5.5	0.81552	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	0.75213	0.3819	L	0.29908	0.895	0.52501	D	0.999958	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	T	0.77219	-0.2668	10	0.62326	D	0.03	-22.7926	19.3998	0.94623	0.0:1.0:0.0:0.0	.	351;415	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	E	415;415;415;351;167	ENSP00000387882:G415E;ENSP00000343199:G415E;ENSP00000353802:G415E;ENSP00000451317:G351E;ENSP00000450922:G167E	ENSP00000343199:G415E	G	-	2	0	TC2N	91321377	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	6.465000	0.73538	2.586000	0.87340	0.655000	0.94253	GGA	TC2N	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000165929		0.358	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	HGNC	protein_coding	OTTHUMT00000411778.1	-	0	56	0	C	NM_152332		92251624	-1	tier1	-	no_errors	ENST00000340892	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	92251624	C	T	92251624	3	4	171	1	0	0	0	0	1	0	0	0	15712	855	30	3	236	3	TC2N	14	92251624	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	12093095	92251624	15097916	120	43093											
EVL	51466	genome.wustl.edu	37	chr14	100599115	100599115	+	Splice_Site	SNP	T	T	C	0	1	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	gaaggaagatgaaagccaaaTggtgagcaagcagcccgccc	15	3	13	10	1	0	3	0	2	0	1	0	5	0	4	3	2	4	2	3	2	5	0			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr14:100599115T>C	ENST00000402714.2	+	8	1497	c.893T>C	c.(892-894)aTg>aCg	p.M298T	EVL_ENST00000544450.2_Splice_Site_p.M304T|EVL_ENST00000392920.3_Splice_Site_p.M300T			Q9UI08	EVL_HUMAN	Enah/Vasp-like	298	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)				GAAAGCCAAATGGTGAGCAAG	0.592																																																	0													167	174	172					14																	100599115		2203	4300	6503	SO:0001630	splice_region_variant	0			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.894+1T>C	14.37:g.100599115T>C			A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1	p.M300T	ENST00000402714.2	37	c.899		14	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.785996	0.00628	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470;ENST00000557384;ENST00000554695	T;T;T;T	0.69040	-0.36;-0.37;-0.36;1.09	4.77	1.74	0.24563	.	0.406946	0.22337	N	0.061391	T	0.24509	0.0594	N	0.00347	-1.61	0.19300	N	0.99998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31943	-0.9925	10	0.13470	T	0.59	-0.1863	6.3385	0.21309	0.1896:0.6044:0.0:0.206	.	304;300;298	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	T	298;304;300;263;194;115	ENSP00000384720:M298T;ENSP00000437904:M304T;ENSP00000376652:M300T;ENSP00000450979:M194T	ENSP00000376652:M300T	M	+	2	0	EVL	99668868	0.981000	0.34729	0.799000	0.32177	0.072000	0.16883	0.139000	0.16036	0.109000	0.17891	-1.972000	0.00464	ATG	EVL	-	pirsf_Vasodilator_phosphoprotein	ENSG00000196405		0.592	EVL-006	KNOWN	basic|appris_candidate	protein_coding	EVL	HGNC	protein_coding	OTTHUMT00000413958.1	-	0	61	0	T		Missense_Mutation	100599115	1	tier1	-	no_errors	ENST00000392920	ensembl	human	known	74_37	missense	40.00	26	18	SNP	0.984	C	C	100599115	T	C	100599115	5	2	171	1	0	0	0	0	0	0	1	0	5307	1478	51	4	929	4	EVL	14	100599115	Splice_Site	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	8347491	100599115	6750425	121	43094											
KLC1	3831	genome.wustl.edu	37	chr14	104123994	104123994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtggctacgggatgaactgGccaacacgcagcagaaactg	13	5	13	10	2	0	2	0	1	0	1	0	3	0	3	1	3	5	3	1	3	4	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr14:104123994G>A	ENST00000348520.6	+	3	692	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	KLC1_ENST00000380038.3_Missense_Mutation_p.A125T|KLC1_ENST00000389744.4_Missense_Mutation_p.A125T|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.A297T|KLC1_ENST00000347839.6_Missense_Mutation_p.A125T|KLC1_ENST00000553286.1_Missense_Mutation_p.A125T|KLC1_ENST00000554280.1_Missense_Mutation_p.A125T|KLC1_ENST00000452929.2_Missense_Mutation_p.A125T|KLC1_ENST00000246489.7_Missense_Mutation_p.A125T|KLC1_ENST00000334553.6_Missense_Mutation_p.A125T|KLC1_ENST00000555836.1_Missense_Mutation_p.A125T|KLC1_ENST00000445352.4_Missense_Mutation_p.A125T|KLC1_ENST00000557450.1_Missense_Mutation_p.A125T|KLC1_ENST00000557575.1_Missense_Mutation_p.A125T	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	125					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GGATGAACTGGCCAACACGCA	0.493																																																	0													103	83	90					14																	104123994		2203	4300	6503	SO:0001583	missense	0			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"Tetratricopeptide (TTC) repeat domain containing"	6387	protein-coding gene	gene with protein product		600025	"kinesin 2 60/70kDa", "kinesin 2"	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.373G>A	14.37:g.104123994G>A	ENSP00000341154:p.Ala125Thr		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.A125T	ENST00000348520.6	37	c.373	CCDS41996.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.700060	0.96802	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000557172;ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.49	5.49	0.81192	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.85682	D	0.000000	T	0.67202	0.2868	L	0.60067	1.865	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.966;0.786;0.999;0.996	D;P;P;D;D	0.91635	0.999;0.852;0.771;0.995;0.955	T	0.64888	-0.6301	10	0.46703	T	0.11	-11.1201	19.7433	0.96241	0.0:0.0:1.0:0.0	.	125;125;297;125;125	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	T	125;125;125;125;125;125;125;125;125;125;125;125;125;125;125;297	ENSP00000450786:A125T;ENSP00000341154:A125T;ENSP00000369377:A125T;ENSP00000374394:A125T;ENSP00000450617:A125T;ENSP00000452487:A125T;ENSP00000334618:A125T;ENSP00000452481:A125T;ENSP00000334523:A125T;ENSP00000246489:A125T;ENSP00000450648:A125T;ENSP00000451242:A125T;ENSP00000414982:A125T;ENSP00000412693:A125T;ENSP00000439065:A297T	ENSP00000246489:A125T	A	+	1	0	KLC1;RP11-73M18.2	103193747	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.813000	0.99286	2.733000	0.93635	0.655000	0.94253	GCC	KLC1	-	pfam_Rabaptin_Rab5-bd_dom,prints_Kinesin_light	ENSG00000126214		0.493	KLC1-001	KNOWN	basic|CCDS	protein_coding	KLC1	HGNC	protein_coding	OTTHUMT00000402947.2	-	0	54	0	G	NM_005552		104123994	1	tier1	-	no_errors	ENST00000334553	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	104123994	G	A	104123994	3	1	171	1	0	0	0	0	1	0	0	0	8360	1203	42	3	379	3	KLC1	14	104123994	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	3524879	104123994	3225546	122	43095											
GABRB3	2562	genome.wustl.edu	37	chr15	26806324	26806324	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcacagttgtgatccCtagaaaagaaacaaagtggt	15	9	10	7	0	1	3	1	1	0	2	2	3	2	3	1	1	2	2	1	1	5	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr15:26806324C>A	ENST00000311550.5	-	8	947		c.e8-1		GABRB3_ENST00000541819.2_Splice_Site|GABRB3_ENST00000299267.4_Splice_Site|GABRB3_ENST00000545868.1_Splice_Site|GABRB3_ENST00000400188.3_Splice_Site	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3						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)	GTTGTGATCCCTAGAAAAGAA	0.428																																																	0													144	136	138					15																	26806324		2203	4300	6503	SO:0001630	splice_region_variant	0				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.836-1G>T	15.37:g.26806324C>A			B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Splice_Site	SNP	-	e8-1	ENST00000311550.5	37	c.836-1	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708832	0.68615	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0894	0.86618	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRB3	24357417	1.000000	0.71417	0.996000	0.52242	0.730000	0.41778	7.707000	0.84623	2.261000	0.74972	0.591000	0.81541	.	GABRB3	-	-	ENSG00000166206		0.428	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2		0	38	0	C		Intron	26806324	-1			no_errors	ENST00000299267	ensembl	human	known	74_37	splice_site	5.45	52	3	SNP	1.000	A	A	26806324	C	A	26806324	5	1	171	1	0	0	0	0	0	0	1	0	6192	695	24	3	594	3	GABRB3	15	26806324	Splice_Site	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09		26806324	75725068	123	43096											
SRRM2	23524	genome.wustl.edu	37	chr16	2812116	2812116	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggaagatctagaagcccccaGcgacgtggccgctctaggtc	9	6	13	13	3	2	2	0	0	2	2	3	4	2	3	3	3	2	1	3	3	4	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr16:2812116G>T	ENST00000301740.8	+	11	2136	c.1587G>T	c.(1585-1587)caG>caT	p.Q529H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	529	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						GAAGCCCCCAGCGACGTGGCC	0.607																																																	0													64	58	60					16																	2812116		2198	4300	6498	SO:0001583	missense	0			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.1587G>T	16.37:g.2812116G>T	ENSP00000301740:p.Gln529His		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.Q529H	ENST00000301740.8	37	c.1587	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529782	0.27387	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.25749	1.78	5.91	4.96	0.65561	.	0.000000	0.64402	D	0.000020	T	0.33440	0.0863	N	0.24115	0.695	0.27860	N	0.940448	D	0.65815	0.995	D	0.77557	0.99	T	0.10359	-1.0633	10	0.56958	D	0.05	-11.4675	9.0577	0.36416	0.1649:0.0:0.8351:0.0	.	529	Q9UQ35	SRRM2_HUMAN	H	529;529;494	ENSP00000301740:Q529H	ENSP00000301740:Q529H	Q	+	3	2	SRRM2	2752117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.938000	0.48987	1.514000	0.48869	0.655000	0.94253	CAG	SRRM2	-	NULL	ENSG00000167978		0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1		0	46	0	G			2812116	1			no_errors	ENST00000301740	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.986	T	T	2812116	G	T	2812116	3	4	171	1	0	0	0	0	1	0	0	0	15216	962	34	3	1625	3	SRRM2	16	2812116	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09		2812116	87542637	124	43097											
ACSM3	6296	genome.wustl.edu	37	chr16	20787204	20787204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttctggtggatcaacaGaaatggagaagagatgcgat	14	8	13	6	1	2	3	1	0	1	3	2	7	2	4	1	3	3	0	1	3	3	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr16:20787204G>T	ENST00000289416.5	+	3	738	c.263G>T	c.(262-264)aGa>aTa	p.R88I	ACSM3_ENST00000450120.2_Missense_Mutation_p.R43I|ACSM3_ENST00000440284.2_Missense_Mutation_p.R88I	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	88					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGATCAACAGAAATGGAGAA	0.413																																																	0													124	135	131					16																	20787204		2201	4300	6501	SO:0001583	missense	0			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.263G>T	16.37:g.20787204G>T	ENSP00000289416:p.Arg88Ile		O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R88I	ENST00000289416.5	37	c.263	CCDS10589.1	16	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972864	0.34848	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.51325	0.71;0.71;0.71	5.92	2.49	0.30216	.	0.380726	0.29002	N	0.013453	T	0.33876	0.0878	N	0.24115	0.695	0.09310	N	1	B;B;B	0.19331	0.035;0.001;0.012	B;B;B	0.24394	0.053;0.001;0.011	T	0.35251	-0.9796	10	0.56958	D	0.05	-25.7958	11.8443	0.52374	0.3028:0.0:0.6972:0.0	.	43;88;88	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	I	88;88;43	ENSP00000289416:R88I;ENSP00000394565:R88I;ENSP00000395297:R43I	ENSP00000289416:R88I	R	+	2	0	ACSM3	20694705	0.797000	0.28877	0.130000	0.21974	0.684000	0.39900	1.197000	0.32211	0.855000	0.35359	0.467000	0.42956	AGA	ACSM3	-	NULL	ENSG00000005187		0.413	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM3	HGNC	protein_coding	OTTHUMT00000254414.2		0	44	0	G	NM_005622		20787204	1			no_errors	ENST00000289416	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.008	T	T	20787204	G	T	20787204	3	4	171	1	0	0	0	0	1	0	0	0	185	942	33	3	269	3	ACSM3	16	20787204	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	17975088	20787204	69567549	125	43098											
NUPR1	26471	genome.wustl.edu	37	chr16	28549406	28549406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcaccagtttcctctcgtgCccgccagggctggggcggtt	3	10	14	14	3	2	0	1	0	1	0	4	0	3	0	4	4	1	3	4	4	0	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr16:28549406C>T	ENST00000324873.6	-	2	449	c.183G>A	c.(181-183)ggG>ggA	p.G61G	NUPR1_ENST00000395641.2_Silent_p.G79G	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	61					acute inflammatory response (GO:0002526)|cell growth (GO:0016049)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male gonad development (GO:0008584)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein modification process (GO:0031401)|protein acetylation (GO:0006473)|protein complex assembly (GO:0006461)|regulation of female gonad development (GO:2000194)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(1)	3						TCCTCTCGTGCCCGCCAGGGC	0.622																																																	0													120	136	130					16																	28549406		2197	4300	6497	SO:0001819	synonymous_variant	0			AF069073	CCDS10634.1, CCDS42137.1	16p11.2	2012-07-04	2012-07-04		ENSG00000176046	ENSG00000176046			29990	protein-coding gene	gene with protein product	"candidate of metastasis 1"	614812				9405444, 10493524, 10092851	Standard	NM_012385		Approved	COM1, p8	uc002dqd.1	O60356	OTTHUMG00000131764	ENST00000324873.6:c.183G>A	16.37:g.28549406C>T			B2R5C4|O60357|Q6FGG3	Silent	SNP	pfam_Nuclear_phosphoprot_p8_DNA-bd	p.G61	ENST00000324873.6	37	c.183	CCDS10634.1	16																																																																																			NUPR1	-	pfam_Nuclear_phosphoprot_p8_DNA-bd	ENSG00000176046		0.622	NUPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUPR1	HGNC	protein_coding	OTTHUMT00000254692.2	-	0	31	0	C	NM_012385		28549406	-1	tier1	-	no_errors	ENST00000324873	ensembl	human	known	74_37	silent	12.20	36	5	SNP	1.000	T	T	28549406	C	T	28549406	2	4	171	1	0	0	0	0	0	0	0	1	10815	726	26	3		3	NUPR1	16	28549406	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	7762202	28549406	61805347	126	43099											
FTO	79068	genome.wustl.edu	37	chr16	53967949	53967949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctccccgtggaacaaaGgaatgaaatcttgactgcca	12	7	12	10	1	1	2	0	2	1	0	2	4	2	4	3	4	2	1	3	4	4	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr16:53967949G>C	ENST00000471389.1	+	8	1514	c.1292G>C	c.(1291-1293)aGg>aCg	p.R431T	FTO_ENST00000460382.1_Missense_Mutation_p.R32T|FTO_ENST00000394647.3_Missense_Mutation_p.R135T|FTO_ENST00000431610.2_Missense_Mutation_p.R32T|FTO_ENST00000463855.1_Missense_Mutation_p.R53T	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	431					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GTGGAACAAAGGAATGAAATC	0.428																																																	0													97	83	88					16																	53967949		2198	4300	6498	SO:0001583	missense	0			BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1292G>C	16.37:g.53967949G>C	ENSP00000418823:p.Arg431Thr		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	NULL	p.R431T	ENST00000471389.1	37	c.1292	CCDS32448.1	16	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235686	0.39498	.	.	ENSG00000140718	ENST00000471389;ENST00000394647;ENST00000431610;ENST00000460382;ENST00000476894;ENST00000463855	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.92	3.79	0.43588	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.238909	0.40908	D	0.000981	T	0.37348	0.1000	L	0.47716	1.5	0.44508	D	0.997451	B	0.20164	0.042	B	0.28385	0.089	T	0.32025	-0.9922	10	0.56958	D	0.05	-1.5292	10.0685	0.42319	0.2:0.0:0.8:0.0	.	431	Q9C0B1	FTO_HUMAN	T	431;135;32;32;32;53	ENSP00000418823:R431T;ENSP00000378142:R135T;ENSP00000415636:R32T;ENSP00000417422:R32T;ENSP00000417843:R53T	ENSP00000378142:R135T	R	+	2	0	FTO	52525450	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.959000	0.40412	1.521000	0.48983	0.557000	0.71058	AGG	FTO	-	NULL	ENSG00000140718		0.428	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTO	HGNC	protein_coding	OTTHUMT00000352196.1	-	0	84	0	G	NM_001080432		53967949	1	tier1	-	no_errors	ENST00000471389	ensembl	human	known	74_37	missense	51.61	30	32	SNP	1.000	C	C	53967949	G	C	53967949	3	2	171	1	0	0	0	0	1	0	0	0	6110	1000	35	5	1322	5	FTO	16	53967949	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	25418543	53967949	36386804	127	43100											
PKD1L2	114780	genome.wustl.edu	37	chr16	81219257	81219257	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctccctctggtctgtgcGaagcagctgcctctcaacac	7	9	9	16	1	3	0	1	0	3	0	5	1	4	0	2	1	6	3	2	1	2	0	rs199529211		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr16:81219257G>A	ENST00000525539.1	-	0	1836				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						TGGTCTGTGCGAAGCAGCTGC	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		14398	0		0	False		,,,				2504	0																0								G	CYS/ARG,CYS/ARG	12,4022		0,12,2005	22	29	26		1837,1837	0.9	0	16		26	0,8378		0,0,4189	yes	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	180,180	0,12,6194	AA,AG,GG		0.0,0.2975,0.0967	possibly-damaging,possibly-damaging	613/992,613/2460	81219257	12,12400	2017	4189	6206			0			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.81219257G>A			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.R613C	ENST00000525539.1	37	c.1837		16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.356|3.356	-0.131421|-0.131421	0.06753|0.06753	0.002975|0.002975	0.0|0.0	ENSG00000166473|ENSG00000166473	ENST00000337114|ENST00000526632	T|.	0.70045|.	-0.45|.	4.83|4.83	0.915|0.915	0.19366|0.19366	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);|.	0.945790|.	0.08895|.	N|.	0.878032|.	T|T	0.30916|0.30916	0.0780|0.0780	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|.	0.20052|.	0.033;0.041|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.24512|0.24512	-1.0158|-1.0158	9|4	0.54805|.	T|.	0.06|.	-0.1295|-0.1295	6.0978|6.0978	0.20031|0.20031	0.2086:0.0:0.643:0.1484|0.2086:0.0:0.643:0.1484	.|.	613;613|.	Q7Z442-3;Q7Z442|.	.;PK1L2_HUMAN|.	C|L	613|140	ENSP00000337397:R613C|.	ENSP00000337397:R613C|.	R|S	-|-	1|2	0|0	PKD1L2|PKD1L2	79776758|79776758	0.024000|0.024000	0.19004|0.19004	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	0.145000|0.145000	0.16157|0.16157	0.351000|0.351000	0.24027|0.24027	0.551000|0.551000	0.68910|0.68910	CGC|TCG	PKD1L2	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000166473		0.602	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387972.2	-	0	73	0	G			81219257	-1	tier1	rs199529211	no_errors	ENST00000337114	ensembl	human	known	74_37	missense	47.19	47	42	SNP	0.000	A	A	81219257	G	A	81219257	1	1	171	0	1	0	0	0	0	0	0	0	12004	1058	37	1		1	PKD1L2	16	81219257	RNA	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	27251308	81219257	9135496	128	43101											
INPP5K	51763	genome.wustl.edu	37	chr17	1399635	1399635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttcaggttgtcgctgcagGagaccttgctgtccccgacc	5	10	13	13	2	1	1	1	0	0	1	3	3	2	1	4	3	2	5	4	3	0	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:1399635G>T	ENST00000421807.2	-	10	1551	c.1163C>A	c.(1162-1164)tCc>tAc	p.S388Y	INPP5K_ENST00000406424.4_Missense_Mutation_p.S312Y|INPP5K_ENST00000542125.1_Missense_Mutation_p.S292Y|INPP5K_ENST00000397335.3_Missense_Mutation_p.S296Y|INPP5K_ENST00000320345.6_Missense_Mutation_p.S312Y	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	388	Required for ruffle localization.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						GTCGCTGCAGGAGACCTTGCT	0.607																																																	0													90	59	70					17																	1399635		2196	4286	6482	SO:0001583	missense	0				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"skeletal muscle and kidney enriched inositol phosphatase"	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.1163C>A	17.37:g.1399635G>T	ENSP00000413937:p.Ser388Tyr		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.S388Y	ENST00000421807.2	37	c.1163	CCDS11004.1	17	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764565	0.49574	.	.	ENSG00000132376	ENST00000421807;ENST00000406424;ENST00000350761;ENST00000320345;ENST00000397335;ENST00000542125	D;D;D;D	0.98090	-4.71;-4.71;-4.65;-4.61	5.66	4.56	0.56223	.	0.157765	0.64402	D	0.000017	D	0.98235	0.9416	M	0.81942	2.565	0.52099	D	0.999941	P;D	0.69078	0.893;0.997	P;D	0.65987	0.66;0.94	D	0.98327	1.0531	10	0.72032	D	0.01	-9.2083	9.4602	0.38781	0.1229:0.0:0.8771:0.0	.	292;388	F5GXZ0;Q9BT40	.;INP5K_HUMAN	Y	312;312;388;312;296;292	ENSP00000385177:S312Y;ENSP00000318476:S312Y;ENSP00000380496:S296Y;ENSP00000440147:S292Y	ENSP00000318476:S312Y	S	-	2	0	INPP5K	1346385	1.000000	0.71417	0.975000	0.42487	0.271000	0.26615	3.568000	0.53820	1.150000	0.42419	0.555000	0.69702	TCC	INPP5K	-	NULL	ENSG00000132376		0.607	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5K	HGNC	protein_coding	OTTHUMT00000319381.4	-	0	64	0	G			1399635	-1	tier1	-	no_errors	ENST00000421807	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.995	T	T	1399635	G	T	1399635	3	4	171	1	0	0	0	0	1	0	0	0	7787	1174	41	3	195	3	INPP5K	17	1399635	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09		1399635	79795575	129	43102											
RNF167	26001	genome.wustl.edu	37	chr17	4846522	4846522	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accttccccttgggctattaCctcatccctttcacagggat	7	13	6	15	0	2	0	2	0	0	0	4	1	4	1	5	2	1	1	5	2	2	5			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:4846522C>T	ENST00000262482.6	+	7	1175	c.519C>T	c.(517-519)taC>taT	p.Y173Y	SLC25A11_ENST00000225665.7_5'Flank|RNF167_ENST00000572430.1_Silent_p.Y173Y|RNF167_ENST00000571816.1_Silent_p.Y173Y|RNF167_ENST00000570492.1_Intron|RNF167_ENST00000576229.1_Silent_p.Y138Y|RNF167_ENST00000575111.1_Silent_p.Y173Y	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	173					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						TGGGCTATTACCTCATCCCTT	0.537																																																	0													79	69	72					17																	4846522		2203	4300	6503	SO:0001819	synonymous_variant	0			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.519C>T	17.37:g.4846522C>T			D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.Y173	ENST00000262482.6	37	c.519	CCDS11060.1	17																																																																																			RNF167	-	NULL	ENSG00000108523		0.537	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF167	HGNC	protein_coding	OTTHUMT00000216854.3	-	0	70	0	C	NM_015528		4846522	1	tier1	-	no_errors	ENST00000262482	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	T	T	4846522	C	T	4846522	2	4	171	1	0	0	0	0	0	0	0	1	13503	518	18	3		3	RNF167	17	4846522	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	3446887	4846522	76348688	130	43103											
EIF4A1	1973	genome.wustl.edu	37	chr17	7479902	7479902	+	Frame_Shift_Del	DEL	G	G	-																															cctcctgtcacgcctgtatcGggggcaccaacgtgcgtgct																										TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:7479902delG	ENST00000293831.8	+	5	422	c.406delG	c.(406-408)gggfs	p.G137fs	SNORA67_ENST00000384423.1_RNA|SNORD10_ENST00000459579.1_RNA|EIF4A1_ENST00000582746.1_Frame_Shift_Del_p.G137fs|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000577269.1_Frame_Shift_Del_p.G137fs|SENP3-EIF4A1_ENST00000579777.1_RNA|CD68_ENST00000380498.6_5'Flank|SNORA48_ENST00000386847.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	137	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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						CGCCTGTATCGGGGGCACCAA	0.562																																					Melanoma(120;278 1668 15796 27423 46368)												0													95	82	87					17																	7479902		2203	4300	6503	SO:0001589	frameshift_variant	0			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.406delG	17.37:g.7479902delG	ENSP00000293831:p.Gly137fs		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G137fs	ENST00000293831.8	37	c.406	CCDS11113.1	17																																																																																			EIF4A1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000161960		0.562	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A1	HGNC	protein_coding	OTTHUMT00000226952.6		0	35	0	G	NM_001416		7479902	1	tier1		no_errors	ENST00000293831	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	1.000	-	-	7479902	G	-	7479902	7	5	171	1	0	1	0	1	0	0	0	0	5040	1116	39	0	424	0	EIF4A1	17	7479902	Frame_Shift_Del	DEL	G	TCGA-VR-A8Q7-01A-11D-A37C-09	2633380	7479902	73715308	131	43104											
TP53	7157	genome.wustl.edu	37	chr17	7577106	7577106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtgcgccggtctctcccagGacaggcacaaacacgcacct	9	6	10	16	3	1	0	0	0	1	0	3	1	2	1	3	3	2	2	3	3	1	0	rs17849781		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:7577106G>C	ENST00000269305.4	-	8	1021	c.832C>G	c.(832-834)Cct>Gct	p.P278A	TP53_ENST00000455263.2_Missense_Mutation_p.P278A|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278A|TP53_ENST00000359597.4_Missense_Mutation_p.P278A|TP53_ENST00000420246.2_Missense_Mutation_p.P278A	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(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)	TCTCTCCCAGGACAGGCACAA	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"	131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(1)	GRCh37	CM011015|CM052927	TP53	M	rs17849781						72	62	65					17																	7577106		2203	4300	6503	SO:0001583	missense	0	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.832C>G	17.37:g.7577106G>C	ENSP00000269305:p.Pro278Ala		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P278A	ENST00000269305.4	37	c.832	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954842	0.92726	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99880	-7.46;-7.46;-7.46;-7.46;-7.46;-7.46	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99894	0.9949	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.992;1.0;0.991;0.988	D	0.96234	0.9170	10	0.72032	D	0.01	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	rs17849781	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	A	278;278;278;278;278;267;146	ENSP00000352610:P278A;ENSP00000269305:P278A;ENSP00000398846:P278A;ENSP00000391127:P278A;ENSP00000391478:P278A;ENSP00000425104:P146A	ENSP00000269305:P278A	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	31	0	G	NM_000546		7577106	-1	tier1	rs17849781	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	51.16	21	22	SNP	1.000	C	C	7577106	G	C	7577106	3	2	171	1	0	0	0	0	1	0	0	0	16429	1174	41	5	454	5	TP53	17	7577106	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	97204	7577106	73618104	132	43105											
EFNB3	1949	genome.wustl.edu	37	chr17	7611541	7611541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctggggccacgagttcCgctcgcaccacgattactac	8	9	9	15	4	1	0	0	0	1	0	4	2	2	0	3	2	2	3	3	2	2	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:7611541C>T	ENST00000226091.2	+	2	785	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	130	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CCACGAGTTCCGCTCGCACCA	0.577																																																	0													64	60	62					17																	7611541		2203	4300	6503	SO:0001583	missense	0			U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"Ephrins"	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.388C>T	17.37:g.7611541C>T	ENSP00000226091:p.Arg130Cys		B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.R130C	ENST00000226091.2	37	c.388	CCDS11120.1	17	.	.	.	.	.	.	.	.	.	.	c	11.78	1.741060	0.30865	.	.	ENSG00000108947	ENST00000226091	D	0.94046	-3.34	4.58	2.56	0.30785	Ephrin, conserved site (1);Cupredoxin (2);	0.079924	0.48767	D	0.000164	D	0.93726	0.7995	L	0.52126	1.63	0.41106	D	0.985701	D	0.89917	1.0	D	0.65874	0.939	D	0.92096	0.5684	10	0.87932	D	0	-2.5583	6.9221	0.24393	0.3054:0.609:0.0:0.0856	.	130	Q15768	EFNB3_HUMAN	C	130	ENSP00000226091:R130C	ENSP00000226091:R130C	R	+	1	0	EFNB3	7552266	0.897000	0.30589	1.000000	0.80357	0.006000	0.05464	0.296000	0.19083	0.523000	0.28482	-0.371000	0.07208	CGC	EFNB3	-	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	ENSG00000108947		0.577	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB3	HGNC	protein_coding	OTTHUMT00000226965.1	-	0	47	0	C	NM_001406		7611541	1	tier1	-	no_errors	ENST00000226091	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.986	T	T	7611541	C	T	7611541	3	4	171	1	0	0	0	0	1	0	0	0	4971	652	23	1	394	1	EFNB3	17	7611541	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	34435	7611541	73583669	133	43106											
LLGL1	3996	genome.wustl.edu	37	chr17	18137986	18137986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttccctgcaaggccattAacaagattctgtggcggaac	10	10	9	12	1	1	1	0	0	1	1	2	2	2	2	3	3	3	1	3	3	4	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:18137986A>G	ENST00000316843.4	+	8	970	c.874A>G	c.(874-876)Aac>Gac	p.N292D		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	292					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)					CAAGGCCATTAACAAGATTCT	0.587																																																	0													115	99	104					17																	18137986		2203	4300	6503	SO:0001583	missense	0				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.874A>G	17.37:g.18137986A>G	ENSP00000321537:p.Asn292Asp		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.N292D	ENST00000316843.4	37	c.874	CCDS32586.1	17	.	.	.	.	.	.	.	.	.	.	A	31	5.072148	0.93950	.	.	ENSG00000131899	ENST00000316843	T	0.04862	3.54	5.61	5.61	0.85477	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.088789	0.85682	D	0.000000	T	0.13114	0.0318	L	0.57536	1.79	0.54753	D	0.999986	P	0.48834	0.916	P	0.49085	0.6	T	0.03249	-1.1056	10	0.32370	T	0.25	-35.6874	14.8227	0.70085	1.0:0.0:0.0:0.0	.	292	Q15334	L2GL1_HUMAN	D	292	ENSP00000321537:N292D	ENSP00000321537:N292D	N	+	1	0	LLGL1	18078711	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.343000	0.59348	2.156000	0.67533	0.524000	0.50904	AAC	LLGL1	-	pfam_LLGL2,superfamily_WD40_repeat_dom	ENSG00000131899		0.587	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	-	0	74	0	A			18137986	1	tier1	-	no_errors	ENST00000316843	ensembl	human	known	74_37	missense	29.07	61	25	SNP	1.000	G	G	18137986	A	G	18137986	3	3	171	1	0	0	0	0	1	0	0	0	8863	362	13	4	904	4	LLGL1	17	18137986	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	10526445	18137986	63057224	134	43107											
TMEM132E	124842	genome.wustl.edu	37	chr17	32953491	32953491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctcgcacgtgcccgcctCgcagcccgtggtccaggtgc	3	6	13	19	6	0	0	0	0	0	0	3	0	1	0	5	2	3	3	5	2	0	0			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:32953491C>T	ENST00000321639.5	+	2	741	c.413C>T	c.(412-414)tCg>tTg	p.S138L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	138						integral component of membrane (GO:0016021)		p.S138L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTGCCCGCCTCGCAGCCCGTG	0.701																																																	1	Substitution - Missense(1)	kidney(1)											20	22	21					17																	32953491		2201	4293	6494	SO:0001583	missense	0			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.413C>T	17.37:g.32953491C>T	ENSP00000316532:p.Ser138Leu		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	NULL	p.S138L	ENST00000321639.5	37	c.413	CCDS11283.1	17	.	.	.	.	.	.	.	.	.	.	c	16.78	3.217163	0.58560	.	.	ENSG00000181291	ENST00000321639	T	0.43688	0.94	5.17	5.17	0.71159	.	0.245363	0.37906	N	0.001899	T	0.35856	0.0946	M	0.62723	1.935	0.24406	N	0.994687	P	0.46327	0.876	B	0.34652	0.187	T	0.51044	-0.8755	10	0.66056	D	0.02	-14.8854	10.6378	0.45575	0.1468:0.7113:0.1419:0.0	.	138	Q6IEE7	T132E_HUMAN	L	138	ENSP00000316532:S138L	ENSP00000316532:S138L	S	+	2	0	TMEM132E	29977604	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.791000	0.26915	2.403000	0.81681	0.543000	0.68304	TCG	TMEM132E	-	NULL	ENSG00000181291		0.701	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	HGNC	protein_coding	OTTHUMT00000256440.2	-	0	80	0	C	NM_207313		32953491	1	tier1	-	no_errors	ENST00000321639	ensembl	human	known	74_37	missense	48.48	34	32	SNP	1.000	T	T	32953491	C	T	32953491	3	4	171	1	0	0	0	0	1	0	0	0	16095	893	31	1	419	1	TMEM132E	17	32953491	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	14815505	32953491	48241719	135	43108											
CNTNAP1	8506	genome.wustl.edu	37	chr17	40842780	40842780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgagcgtggacagttgtgCggcatgacaggctgtggaca	9	7	16	9	3	0	1	0	1	0	0	0	4	0	3	1	4	2	3	1	4	0	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:40842780C>T	ENST00000264638.4	+	13	2096	c.1879C>T	c.(1879-1881)Cgg>Tgg	p.R627W	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	627	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GACAGTTGTGCGGCATGACAG	0.592																																																	0													134	126	129					17																	40842780		2203	4300	6503	SO:0001583	missense	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1879C>T	17.37:g.40842780C>T	ENSP00000264638:p.Arg627Trp			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R627W	ENST00000264638.4	37	c.1879	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817876	0.32145	.	.	ENSG00000108797	ENST00000264638	T	0.21361	2.01	5.83	1.44	0.22558	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);	0.090297	0.47852	D	0.000203	T	0.16171	0.0389	L	0.39898	1.24	0.18873	N	0.999985	B	0.23591	0.088	B	0.18871	0.023	T	0.16571	-1.0398	10	0.54805	T	0.06	.	10.0719	0.42339	0.4611:0.4778:0.0:0.0612	.	627	P78357	CNTP1_HUMAN	W	627	ENSP00000264638:R627W	ENSP00000264638:R627W	R	+	1	2	CNTNAP1	38096306	0.078000	0.21339	0.959000	0.39883	0.890000	0.51754	0.246000	0.18160	0.067000	0.16545	-1.028000	0.02416	CGG	CNTNAP1	-	superfamily_Fibrinogen_a/b/g_C_dom	ENSG00000108797		0.592	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1		0	34	0	C	NM_003632		40842780	1			no_errors	ENST00000264638	ensembl	human	known	74_37	missense	6.82	39	3	SNP	0.246	T	T	40842780	C	T	40842780	3	4	171	1	0	0	0	0	1	0	0	0	3653	759	27	1	1929	1	CNTNAP1	17	40842780	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	7889289	40842780	40352430	136	43109											
DHX8	1659	genome.wustl.edu	37	chr17	41601024	41601024	+	Missense_Mutation	SNP	A	A	G	1	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	accatgagctggtgctcaccAccaaggaatacatgcgtgaa	13	7	10	11	1	1	2	1	2	0	0	1	3	1	3	3	2	4	2	3	2	4	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:41601024A>G	ENST00000262415.3	+	23	3544	c.3472A>G	c.(3472-3474)Acc>Gcc	p.T1158A	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1158					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)		GGTGCTCACCACCAAGGAATA	0.537																																					NSCLC(56;1548 1661 49258 49987)												0													135	115	122					17																	41601024		2203	4300	6503	SO:0001583	missense	0			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.3472A>G	17.37:g.41601024A>G	ENSP00000262415:p.Thr1158Ala			Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T1158A	ENST00000262415.3	37	c.3472	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	A	23.3	4.402815	0.83230	.	.	ENSG00000067596	ENST00000262415	T	0.02498	4.27	6.17	6.17	0.99709	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	M	0.84773	2.715	0.80722	D	1	B	0.20459	0.045	B	0.31245	0.126	T	0.01136	-1.1440	10	0.62326	D	0.03	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	1158	Q14562	DHX8_HUMAN	A	1158	ENSP00000262415:T1158A	ENSP00000262415:T1158A	T	+	1	0	DHX8	38956550	1.000000	0.71417	0.994000	0.49952	0.914000	0.54420	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	ACC	DHX8	-	pfam_DUF1605,superfamily_P-loop_NTPase	ENSG00000067596		0.537	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	-	0	61	0	A			41601024	1	tier1	-	no_errors	ENST00000262415	ensembl	human	known	74_37	missense	17.50	66	14	SNP	1.000	G	G	41601024	A	G	41601024	3	3	171	1	0	0	0	0	1	0	0	0	4529	159	6	4	3562	4	DHX8	17	41601024	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	758244	41601024	39594186	137	43110											
AXIN2	8313	genome.wustl.edu	37	chr17	63532605	63532605	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccccccacagatggtgccgGctggctcgttcgcctggaga	5	7	13	16	3	0	2	0	0	0	2	2	3	0	2	5	4	1	3	5	4	0	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:63532605G>A	ENST00000375702.5	-	6	1887	c.1779C>T	c.(1777-1779)agC>agT	p.S593S	AXIN2_ENST00000307078.5_Silent_p.S658S			Q9Y2T1	AXIN2_HUMAN	axin 2	630				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GATGGTGCCGGCTGGCTCGTT	0.637									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								0													30	36	34					17																	63532605		2203	4299	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1779C>T	17.37:g.63532605G>A			Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.S658	ENST00000375702.5	37	c.1974		17																																																																																			AXIN2	-	NULL	ENSG00000168646		0.637	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1	-	0	44	0	G	NM_004655		63532605	-1	tier1	-	no_errors	ENST00000307078	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.713	A	A	63532605	G	A	63532605	2	1	171	1	0	0	0	0	0	0	0	1	1238	1194	42	3		3	AXIN2	17	63532605	Silent	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	21931581	63532605	17662605	138	43111											
ABCA9	10350	genome.wustl.edu	37	chr17	66992115	66992115	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaatagccctagaaatccaTattcatttagatcagtagca	17	11	5	8	0	2	2	2	0	0	2	3	2	3	2	2	0	2	2	2	0	8	7	rs533072475		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:66992115T>G	ENST00000340001.4	-	26	3687	c.3476A>C	c.(3475-3477)tAt>tCt	p.Y1159S	ABCA9_ENST00000370732.2_Missense_Mutation_p.Y1159S|ABCA9_ENST00000453985.2_Missense_Mutation_p.Y1121S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1159					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAGAAATCCATATTCATTTAG	0.363																																																	0													130	118	122					17																	66992115		2203	4300	6503	SO:0001583	missense	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3476A>C	17.37:g.66992115T>G	ENSP00000342216:p.Tyr1159Ser		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y1159S	ENST00000340001.4	37	c.3476	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	T	8.578	0.881544	0.17467	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.81659	-1.52;-1.52	5.43	3.03	0.35002	.	0.182497	0.26499	N	0.024030	T	0.68329	0.2989	L	0.38175	1.15	0.09310	N	1	B;B	0.13594	0.008;0.005	B;B	0.11329	0.006;0.006	T	0.55515	-0.8129	10	0.33940	T	0.23	.	7.2134	0.25947	0.4524:0.0:0.0:0.5476	.	1159;1159	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	1159;1104;1159;1116	ENSP00000342216:Y1159S;ENSP00000359767:Y1159S	ENSP00000342216:Y1159S	Y	-	2	0	ABCA9	64503710	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.557000	0.23454	0.850000	0.35239	0.496000	0.49642	TAT	ABCA9	-	NULL	ENSG00000154258		0.363	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	-	0	62	0	T	NM_172386		66992115	-1	tier1	-	no_errors	ENST00000340001	ensembl	human	known	74_37	missense	13.33	52	8	SNP	0.001	G	G	66992115	T	G	66992115	3	3	171	1	0	0	0	0	1	0	0	0	39	1406	49	4	1454	4	ABCA9	17	66992115	Missense_Mutation	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	3459510	66992115	14203095	139	43112											
ITGB4	3691	genome.wustl.edu	37	chr17	73726332	73726332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttccccagagggacattgGctggcgcccggacagcaccc	7	5	12	17	2	0	1	0	0	0	1	1	3	1	3	5	4	1	2	5	4	0	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:73726332G>C	ENST00000200181.3	+	8	936	c.749G>C	c.(748-750)gGc>gCc	p.G250A	ITGB4_ENST00000339591.3_Missense_Mutation_p.G250A|ITGB4_ENST00000579662.1_Missense_Mutation_p.G250A|ITGB4_ENST00000449880.2_Missense_Mutation_p.G250A|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.G250A	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	250	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGGACATTGGCTGGCGCCCG	0.667																																																	0													40	36	38					17																	73726332		2201	4286	6487	SO:0001583	missense	0				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.749G>C	17.37:g.73726332G>C	ENSP00000200181:p.Gly250Ala		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.G250A	ENST00000200181.3	37	c.749	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	13.00	2.104991	0.37145	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.96427	-4.01;-4.01;-4.01	5.29	5.29	0.74685	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	H	0.96301	3.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;0.998;1.0;1.0	D	0.99628	1.0985	10	0.87932	D	0	.	18.9193	0.92519	0.0:0.0:1.0:0.0	.	250;250;250;250	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	A	166;250;250;250	ENSP00000200181:G250A;ENSP00000344079:G250A;ENSP00000400217:G250A	ENSP00000200181:G250A	G	+	2	0	ITGB4	71237927	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	9.184000	0.94893	2.465000	0.83290	0.467000	0.42956	GGC	ITGB4	-	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000132470		0.667	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	-	0	63	0	G			73726332	1	tier1	-	no_errors	ENST00000200181	ensembl	human	known	74_37	missense	13.33	78	12	SNP	1.000	C	C	73726332	G	C	73726332	3	2	171	1	0	0	0	0	1	0	0	0	7924	1203	42	5	775	5	ITGB4	17	73726332	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	6734217	73726332	7468878	140	43113											
FOXJ1	2302	genome.wustl.edu	37	chr17	74134094	74134094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgctcagtagccgctcCgcgtactgggggtcaatgcg	5	7	15	14	6	2	0	2	0	0	0	3	0	3	0	3	2	3	4	3	2	3	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr17:74134094C>T	ENST00000322957.6	-	3	960	c.606G>A	c.(604-606)gcG>gcA	p.A202A	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	202					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)			GTAGCCGCTCCGCGTACTGGG	0.647																																																	0													26	29	28					17																	74134094		2203	4300	6503	SO:0001819	synonymous_variant	0			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.606G>A	17.37:g.74134094C>T			O00630	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.A202	ENST00000322957.6	37	c.606	CCDS32739.1	17																																																																																			FOXJ1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000129654		0.647	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ1	HGNC	protein_coding	OTTHUMT00000449856.1	-	0	66	0	C	NM_001454		74134094	-1	tier1	-	no_errors	ENST00000322957	ensembl	human	known	74_37	silent	13.79	50	8	SNP	0.653	T	T	74134094	C	T	74134094	2	4	171	1	0	0	0	0	0	0	0	1	6035	639	23	1		1	FOXJ1	17	74134094	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	407762	74134094	7061116	141	43114											
TMEM200C	645369	genome.wustl.edu	37	chr18	5892004	5892004	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcttgggtatctggcttgggGggcggagtggatcctgcttt	3	13	18	7	1	1	0	0	0	1	0	2	2	2	2	1	7	1	4	1	7	1	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr18:5892004G>C	ENST00000581347.2	-	3	704	c.59C>G	c.(58-60)cCc>cGc	p.P20R	RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.P20R|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	20						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTGGCTTGGGGGGCGGAGTGG	0.612																																																	0													66	70	68					18																	5892004		2063	4207	6270	SO:0001583	missense	0				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.59C>G	18.37:g.5892004G>C	ENSP00000463375:p.Pro20Arg			Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.P20R	ENST00000581347.2	37	c.59	CCDS45825.1	18	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780782	0.70222	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.3	4.3	0.51218	.	0.125586	0.56097	D	0.000034	T	0.61850	0.2380	L	0.44542	1.39	0.34847	D	0.741283	D	0.64830	0.994	D	0.66497	0.944	T	0.72371	-0.4314	9	0.72032	D	0.01	-6.42	12.4449	0.55645	0.0:0.0:0.8325:0.1675	.	20	A6NKL6	T200C_HUMAN	R	20	.	ENSP00000372982:P20R	P	-	2	0	TMEM200C	5882004	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	7.507000	0.81676	2.376000	0.81061	0.557000	0.71058	CCC	TMEM200C	-	pfam_DUF2371_TMEM200	ENSG00000206432		0.612	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200C	HGNC	protein_coding	OTTHUMT00000441917.4	-	0	44	0	G	NM_001080209		5892004	-1	tier1	-	no_errors	ENST00000383490	ensembl	human	known	74_37	missense	12.07	51	7	SNP	0.958	C	C	5892004	G	C	5892004	3	2	171	1	0	0	0	0	1	0	0	0	16172	1232	43	5	1810	5	TMEM200C	18	5892004	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09		5892004	72185244	142	43115											
ARHGAP28	79822	genome.wustl.edu	37	chr18	6912058	6912058	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatctttctctttcttttaGgagagcattgcttggatcca	7	18	8	8	0	3	2	0	1	3	1	5	4	4	3	1	2	2	2	1	2	1	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr18:6912058G>T	ENST00000383472.4	+	18	2199		c.e18-1		ARHGAP28_ENST00000419673.2_Splice_Site|ARHGAP28_ENST00000314319.3_Splice_Site|ARHGAP28_ENST00000531294.1_Splice_Site			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTTTCTTTTAGGAGAGCATTG	0.368																																																	0													48	47	47					18																	6912058		2203	4300	6503	SO:0001630	splice_region_variant	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.2096-1G>T	18.37:g.6912058G>T			A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Splice_Site	SNP	-	e16-1	ENST00000383472.4	37	c.1619-1		18	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178620	0.78564	.	.	ENSG00000088756	ENST00000419673;ENST00000531294;ENST00000314319	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.958	0.92668	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP28	6902058	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.968000	0.70413	2.775000	0.95449	0.655000	0.94253	.	ARHGAP28	-	-	ENSG00000088756		0.368	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3		0	19	0	G	XM_371108	Intron	6912058	1			no_errors	ENST00000314319	ensembl	human	known	74_37	splice_site	17.24	24	5	SNP	1.000	T	T	6912058	G	T	6912058	5	4	171	1	0	0	0	0	0	0	1	0	877	1014	35	3	1823	3	ARHGAP28	18	6912058	Splice_Site	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	1020054	6912058	71165190	143	43116											
TCF4	6925	genome.wustl.edu	37	chr18	53017598	53017598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagtacttactgaagatgGcaaacctggaggaacttttc	13	10	10	8	0	0	2	0	1	0	1	1	4	0	4	1	3	5	3	1	3	5	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr18:53017598G>A	ENST00000356073.4	-	8	1152	c.541C>T	c.(541-543)Cca>Tca	p.P181S	TCF4_ENST00000561992.1_Missense_Mutation_p.P51S|TCF4_ENST00000565018.2_Missense_Mutation_p.P181S|TCF4_ENST00000543082.1_Missense_Mutation_p.P139S|TCF4_ENST00000568673.1_Missense_Mutation_p.P157S|TCF4_ENST00000564999.1_Missense_Mutation_p.P181S|TCF4_ENST00000564228.1_Missense_Mutation_p.P110S|TCF4_ENST00000566286.1_Missense_Mutation_p.P179S|TCF4_ENST00000544241.2_Missense_Mutation_p.P110S|TCF4_ENST00000570177.2_Missense_Mutation_p.P51S|TCF4_ENST00000537578.1_Missense_Mutation_p.P157S|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000398339.1_Missense_Mutation_p.P283S|TCF4_ENST00000568740.1_Missense_Mutation_p.P156S|TCF4_ENST00000354452.3_Missense_Mutation_p.P181S|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000564403.2_Missense_Mutation_p.P181S|TCF4_ENST00000540999.1_Missense_Mutation_p.P157S|TCF4_ENST00000537856.3_Missense_Mutation_p.P51S	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	181					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)		ACTGAAGATGGCAAACCTGGA	0.378																																																	0													146	126	132					18																	53017598		2203	4300	6503	SO:0001583	missense	0			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.541C>T	18.37:g.53017598G>A	ENSP00000348374:p.Pro181Ser		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	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P283S	ENST00000356073.4	37	c.847	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468585	0.63625	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	D;D;D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	L	0.58510	1.815	0.48135	D	0.99959	P;B;P;B;P;P;P	0.51933	0.949;0.395;0.745;0.068;0.572;0.949;0.949	P;B;B;B;B;P;B	0.46885	0.53;0.259;0.222;0.018;0.164;0.53;0.391	D	0.89865	0.4019	10	0.49607	T	0.09	-29.5256	18.1047	0.89516	0.0:0.0:1.0:0.0	.	157;181;157;283;181;139;110	B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62	.;.;.;.;ITF2_HUMAN;.;.	S	181;181;139;157;157;110;51;283	ENSP00000346440:P181S;ENSP00000348374:P181S;ENSP00000439656:P139S;ENSP00000445202:P157S;ENSP00000440731:P157S;ENSP00000441562:P110S;ENSP00000439827:P51S;ENSP00000381382:P283S	ENSP00000346440:P181S	P	-	1	0	TCF4	51168596	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.490000	0.81461	2.582000	0.87167	0.491000	0.48974	CCA	TCF4	-	NULL	ENSG00000196628		0.378	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	-	0	45	0	G	NM_003199		53017598	-1	tier1	-	no_errors	ENST00000398339	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	53017598	G	A	53017598	3	1	171	1	0	0	0	0	1	0	0	0	15742	1203	42	3	1522	3	TCF4	18	53017598	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	46105540	53017598	25059650	144	43117											
SERPINB11	89778	genome.wustl.edu	37	chr18	61377452	61377452	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctctcagcacagctaacGttgaattttgccttgatgtg	8	15	9	9	1	2	2	1	2	1	0	3	2	2	2	1	0	4	4	1	0	2	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr18:61377452G>A	ENST00000382749.5	+	0	270				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CACAGCTAACGTTGAATTTTG	0.403											OREG0003822	type=REGULATORY REGION|Gene=SERPINB11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Ovarian(27;496 784 5942 8975 23930)												0													108	97	100					18																	61377452		1920	4139	6059			0					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61377452G>A		1053	A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.V9I	ENST00000382749.5	37	c.25		18	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370029	0.24771	.	.	ENSG00000206072	ENST00000544088;ENST00000538847	D;D	0.84223	-1.82;-1.82	5.14	0.19	0.15125	Serpin domain (2);	1.043170	0.07628	N	0.928062	T	0.75191	0.3816	L	0.35593	1.075	0.09310	N	1	P;B	0.43314	0.803;0.075	B;B	0.35727	0.209;0.027	T	0.61681	-0.7013	10	0.46703	T	0.11	.	8.5652	0.33536	0.4233:0.0:0.5767:0.0	.	9;9	F5GY69;Q96P15	.;SPB11_HUMAN	I	9	ENSP00000441497:V9I;ENSP00000440795:V9I	ENSP00000421854:V9I	V	+	1	0	SERPINB11	59528432	0.000000	0.05858	0.002000	0.10522	0.892000	0.51952	0.018000	0.13422	-0.197000	0.10350	0.655000	0.94253	GTT	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom	ENSG00000206072		0.403	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	-	0	61	0	G	NM_080475		61377452	1	tier1	-	no_errors	ENST00000538847	ensembl	human	known	74_37	missense	8.75	73	7	SNP	0.003	A	A	61377452	G	A	61377452	1	1	171	0	1	0	0	0	0	0	0	0	14143	1145	40	1		1	SERPINB11	18	61377452	RNA	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	8359854	61377452	16699796	145	43118											
SCAMP4	113178	genome.wustl.edu	37	chr19	1917794	1917794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtggagcaccaggtcctgGtgaagaggatctaccggctg	9	7	15	10	1	1	2	0	1	1	1	2	4	2	4	3	5	2	2	3	5	2	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr19:1917794G>A	ENST00000316097.8	+	3	376	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	SCAMP4_ENST00000414057.2_3'UTR|SCAMP4_ENST00000409472.1_Missense_Mutation_p.V37M	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	37					protein transport (GO:0015031)	integral component of membrane (GO:0016021)							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)		CCAGGTCCTGGTGAAGAGGAT	0.617																																																	0													55	63	61					19																	1917794		2054	4193	6247	SO:0001583	missense	0			AK091166	CCDS45903.1	19p13.3	2013-02-21			ENSG00000227500	ENSG00000227500		"Secretory carrier membrane proteins"	30385	protein-coding gene	gene with protein product		613764					Standard	NM_079834		Approved	FLJ33847	uc002luj.4	Q969E2	OTTHUMG00000154590	ENST00000316097.8:c.109G>A	19.37:g.1917794G>A	ENSP00000316007:p.Val37Met		Q8N2N1|Q8NAV0	Missense_Mutation	SNP	pfam_SCAMP	p.V37M	ENST00000316097.8	37	c.109	CCDS45903.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.340|9.340	1.062773|1.062773	0.19987|0.19987	.|.	.|.	ENSG00000227500|ENSG00000227500	ENST00000316097;ENST00000409472;ENST00000411971|ENST00000414057	T;T|.	0.19669|.	2.13;2.13|.	4.3|4.3	3.26|3.26	0.37387|0.37387	.|.	.|.	.|.	.|.	.|.	T|.	0.72187|.	0.3429|.	M|M	0.79614|0.79614	2.46|2.46	0.51767|0.51767	D|D	0.999933|0.999933	P;P;B|.	0.38395|.	0.575;0.629;0.202|.	B;B;B|.	0.44044|.	0.406;0.439;0.132|.	T|.	0.72424|.	-0.4298|.	9|.	0.41790|.	T|.	0.15|.	-11.8782|-11.8782	11.3838|11.3838	0.49773|0.49773	0.0899:0.0:0.9101:0.0|0.0899:0.0:0.9101:0.0	.|.	37;37;37|.	Q969E2-2;Q969E2;F8WDW4|.	.;SCAM4_HUMAN;.|.	M|X	37;37;109|46	ENSP00000316007:V37M;ENSP00000386865:V37M|.	ENSP00000316007:V37M|.	V|W	+|+	1|3	0|0	SCAMP4|SCAMP4	1868794|1868794	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.002000|0.002000	0.02628|0.02628	4.973000|4.973000	0.63763|0.63763	0.916000|0.916000	0.36871|0.36871	-0.339000|-0.339000	0.08088|0.08088	GTG|TGG	SCAMP4	-	pfam_SCAMP	ENSG00000227500		0.617	SCAMP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP4	HGNC	protein_coding	OTTHUMT00000336210.3		0	40	0	G	NM_079834		1917794	1			no_errors	ENST00000316097	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.992	A	A	1917794	G	A	1917794	3	1	171	1	0	0	0	0	1	0	0	0	13918	1261	44	3	115	3	SCAMP4	19	1917794	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09		1917794	57211189	146	43119											
ZBTB7A	51341	genome.wustl.edu	37	chr19	4048040	4048040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggggacgccgttgcagcCgtctttcttgaggtgtctgt	4	12	15	10	4	3	1	0	1	3	0	3	3	3	2	2	3	2	2	2	3	0	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr19:4048040C>T	ENST00000322357.4	-	3	1743	c.1465G>A	c.(1465-1467)Ggc>Agc	p.G489S	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.G489S	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	489					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|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)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTTGCAGCCGTCTTTCTTG	0.761																																																	0													39	36	37					19																	4048040		2203	4300	6503	SO:0001583	missense	0			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1465G>A	19.37:g.4048040C>T	ENSP00000323670:p.Gly489Ser		D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G489S	ENST00000322357.4	37	c.1465	CCDS12119.1	19	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384641	0.61845	.	.	ENSG00000178951	ENST00000322357	T	0.12361	2.69	4.0	4.0	0.46444	Zinc finger, C2H2 (1);	0.000000	0.64402	U	0.000001	T	0.05044	0.0135	N	0.11560	0.145	0.41225	D	0.986533	P	0.48162	0.906	B	0.35182	0.197	T	0.45498	-0.9257	10	0.16896	T	0.51	.	7.6673	0.28439	0.0:0.8809:0.0:0.1191	.	489	O95365	ZBT7A_HUMAN	S	489	ENSP00000323670:G489S	ENSP00000323670:G489S	G	-	1	0	ZBTB7A	3999040	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.472000	0.45136	1.785000	0.52413	0.549000	0.68633	GGC	ZBTB7A	-	pfscan_Znf_C2H2	ENSG00000178951		0.761	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	HGNC	protein_coding	OTTHUMT00000457621.2		0	30	0	C	NM_015898		4048040	-1			no_errors	ENST00000322357	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	T	T	4048040	C	T	4048040	3	4	171	1	0	0	0	0	1	0	0	0	17601	652	23	1	293	1	ZBTB7A	19	4048040	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	2130246	4048040	55080943	147	43120											
DUS3L	56931	genome.wustl.edu	37	chr19	5788046	5788046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcactgacctggacgccaaAgatgtcctcacactggtggc	9	7	12	13	1	1	2	1	1	0	1	2	3	2	3	3	4	0	1	3	4	1	0			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr19:5788046A>G	ENST00000309061.7	-	5	1180	c.1084T>C	c.(1084-1086)Ttt>Ctt	p.F362L	DUS3L_ENST00000590681.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.F120L|CTB-54O9.9_ENST00000586012.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	362							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGGACGCCAAAGATGTCCTCA	0.647																																																	0													47	42	44					19																	5788046		2203	4300	6503	SO:0001583	missense	0				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1084T>C	19.37:g.5788046A>G	ENSP00000311977:p.Phe362Leu		Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	pfam_tRNA_hU_synthase	p.F362L	ENST00000309061.7	37	c.1084	CCDS32880.1	19	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033658	0.54896	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.18174	2.23;2.23	3.74	3.74	0.42951	Aldolase-type TIM barrel (1);	0.000000	0.85682	U	0.000000	T	0.35799	0.0944	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.967	T	0.10965	-1.0607	10	0.87932	D	0	-0.8442	10.4597	0.44572	1.0:0.0:0.0:0.0	.	120;362	Q96G46-3;Q96G46	.;DUS3L_HUMAN	L	362;120	ENSP00000311977:F362L;ENSP00000315558:F120L	ENSP00000311977:F362L	F	-	1	0	DUS3L	5739046	1.000000	0.71417	0.699000	0.30290	0.099000	0.18886	9.167000	0.94773	1.352000	0.45808	0.374000	0.22700	TTT	DUS3L	-	pfam_tRNA_hU_synthase	ENSG00000141994		0.647	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	-	0	55	0	A	NM_020175		5788046	-1	tier1	-	no_errors	ENST00000309061	ensembl	human	known	74_37	missense	53.33	28	32	SNP	1.000	G	G	5788046	A	G	5788046	3	3	171	1	0	0	0	0	1	0	0	0	4821	72	3	4	904	4	DUS3L	19	5788046	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	1740006	5788046	53340937	148	43121											
EMR1	2015	genome.wustl.edu	37	chr19	6937659	6937659	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccatccgcttccaagacGgtgagagactgcatgctccc	9	8	10	14	2	0	3	0	1	0	2	3	4	3	3	4	1	3	3	4	1	1	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr19:6937659G>T	ENST00000312053.4	+	20	2692	c.2655G>T	c.(2653-2655)acG>acT	p.T885T	EMR1_ENST00000381407.5_Splice_Site_p.T744T|EMR1_ENST00000450315.3_Splice_Site_p.T708T|EMR1_ENST00000250572.8_Splice_Site_p.T820T|EMR1_ENST00000381404.4_Splice_Site_p.T866T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	885					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCCAAGACGGTGAGAGACT	0.582																																																	0													123	100	108					19																	6937659		2203	4300	6503	SO:0001630	splice_region_variant	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2655+1G>T	19.37:g.6937659G>T			A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.T885	ENST00000312053.4	37	c.2655	CCDS12175.1	19																																																																																			EMR1	-	NULL	ENSG00000174837		0.582	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1		0	24	0	G		Silent	6937659	1			no_errors	ENST00000312053	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.971	T	T	6937659	G	T	6937659	5	4	171	1	0	0	0	0	0	0	1	0	5120	1130	39	2	2733	2	EMR1	19	6937659	Splice_Site	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	1149613	6937659	52191324	149	43122											
SMARCA4	6597	genome.wustl.edu	37	chr19	11152145	11152145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agaagcagaagaagcgcgggCggccgcctgccgagaaactc	12	2	15	12	5	0	4	0	0	0	4	1	5	0	4	3	2	4	1	3	2	4	0			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr19:11152145C>T	ENST00000429416.3	+	31	4614	c.4333C>T	c.(4333-4335)Cgg>Tgg	p.R1445W	SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1412W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1415W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1415W|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1412W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1415W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1477W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1415W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1445W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1445					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)				GAAGCGCGGGCGGCCGCCTGC	0.612			"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)											48	50	49					19																	11152145		2203	4300	6503	SO:0001583	missense	0			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.4333C>T	19.37:g.11152145C>T	ENSP00000395654:p.Arg1445Trp		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.R1477W	ENST00000429416.3	37	c.4429	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757243	0.69648	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	4.44	3.35	0.38373	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	L	0.49778	1.585	0.53005	D	0.999969	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	0.973;0.973;0.982;0.982;0.999;0.982	T	0.53401	-0.8444	10	0.87932	D	0	-33.5392	11.4906	0.50379	0.2311:0.7689:0.0:0.0	.	1415;1412;1412;1477;1415;1445	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;P51532	.;.;.;.;.;SMCA4_HUMAN	W	1445;1477;1479;1445;1412;1412;1415;1415	ENSP00000395654:R1445W;ENSP00000350720:R1477W;ENSP00000343896:R1445W;ENSP00000392837:R1412W;ENSP00000397783:R1415W;ENSP00000414727:R1415W	ENSP00000343896:R1445W	R	+	1	2	SMARCA4	11013145	0.865000	0.29922	0.997000	0.53966	0.685000	0.39939	1.734000	0.38166	2.308000	0.77769	0.467000	0.42956	CGG	SMARCA4	-	superfamily_Bromodomain	ENSG00000127616		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0	69	0	C	NM_003072		11152145	1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	70.92	35	100	SNP	1.000	T	T	11152145	C	T	11152145	3	4	171	1	0	0	0	0	1	0	0	0	14815	759	27	1	4556	1	SMARCA4	19	11152145	Missense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	4214486	11152145	47976838	150	43123											
ZNF536	9745	genome.wustl.edu	37	chr19	30936428	30936428	+	Silent	SNP	C	C	T	0	0	0	1	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	gtcgtgcactcccgtgtccaCaagcgggaccgcaagggcga	8	5	14	14	5	0	0	0	0	0	0	3	2	2	1	3	2	2	2	3	2	2	0			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr19:30936428C>T	ENST00000355537.3	+	2	2106	c.1959C>T	c.(1957-1959)caC>caT	p.H653H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	653					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)					CCCGTGTCCACAAGCGGGACC	0.677																																																	0													61	68	65					19																	30936428		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1959C>T	19.37:g.30936428C>T			A2RU18	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H653	ENST00000355537.3	37	c.1959	CCDS32984.1	19																																																																																			ZNF536	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198597		0.677	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0	105	0	C	NM_014717		30936428	1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	silent	35.71	54	30	SNP	1.000	T	T	30936428	C	T	30936428	2	4	171	1	0	0	0	0	0	0	0	1	18022	477	17	3		3	ZNF536	19	30936428	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	19784283	30936428	28192555	151	43124											
ZFP14	57677	genome.wustl.edu	37	chr19	36831606	36831606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtcttaatctaaaagtcttCccacattccttacattcgta	11	16	3	11	1	3	0	0	0	3	0	6	0	5	0	2	0	1	1	2	0	5	7			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr19:36831606C>T	ENST00000270001.7	-	5	1237	c.1122G>A	c.(1120-1122)ggG>ggA	p.G374G		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	374					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)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TAAAAGTCTTCCCACATTCCT	0.378																																																	0													105	98	100					19																	36831606		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1122G>A	19.37:g.36831606C>T			A7MD23	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G374	ENST00000270001.7	37	c.1122	CCDS33002.1	19																																																																																			ZFP14	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000142065		0.378	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	-	0	57	0	C	NM_020917		36831606	-1	tier1	-	no_errors	ENST00000270001	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	T	T	36831606	C	T	36831606	2	4	171	1	0	0	0	0	0	0	0	1	17687	842	30	3		3	ZFP14	19	36831606	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	5895178	36831606	22297377	152	43125											
CIC	23152	genome.wustl.edu	37	chr19	42791176	42791177	+	Frame_Shift_Ins	INS	-	-	TGTT																															gaacctgctgagtcggcagcINStgttgctcatgaacggccac																								rs145020411		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr19:42791176_42791177insTGTT	ENST00000575354.2	+	3	276_277	c.236_237insTGTT	c.(235-240)gctgttfs	p.-80fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.-989fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.-80fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGTCGGCAGCTGTTGCTCATG	0.673			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0																																										SO:0001589	frameshift_variant	0			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.237_240dupTGTT	19.37:g.42791177_42791180dupTGTT	ENSP00000458663:p.Val80fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A81fs	ENST00000575354.2	37	c.236_237	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.673	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2		0	84	0	-			42791177	1	tier1		no_errors	ENST00000575354	ensembl	human	known	74_37	frame_shift_ins	33.78	49	25	INS	0.970:0.968	TGTT	TGTT	42791177	-	TGTT	42791176	7	5	171	1	0	1	1	0	0	0	0	0	3431	797	28	0	246	0	CIC	19	42791176	Frame_Shift_Ins	INS	-	TCGA-VR-A8Q7-01A-11D-A37C-09	5959570	42791176	16337807	153	43126											
SLC8A2	6543	genome.wustl.edu	37	chr19	47960551	47960551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagatccttgtccgggtGcttctgcttgaggtccttga	4	14	11	12	1	1	3	0	2	1	1	5	3	5	3	4	2	2	2	4	2	0	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr19:47960551G>A	ENST00000236877.6	-	3	1371	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	SLC8A2_ENST00000542837.1_Missense_Mutation_p.H82Y|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	326					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTGTCCGGGTGCTTCTGCTTG	0.692																																																	0													9	7	8					19																	47960551		1995	3846	5841	SO:0001583	missense	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.976C>T	19.37:g.47960551G>A	ENSP00000236877:p.His326Tyr		B4DYQ9	Missense_Mutation	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.H326Y	ENST00000236877.6	37	c.976	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	G	9.656	1.142790	0.21205	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000542837	T;T	0.38560	1.35;1.13	3.55	3.55	0.40652	.	0.213761	0.41396	D	0.000889	T	0.25121	0.0610	N	0.21545	0.675	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.0;0.004	T	0.06661	-1.0814	10	0.23302	T	0.38	.	8.1555	0.31167	0.1157:0.0:0.8843:0.0	.	154;326	E9PGS7;Q9UPR5	.;NAC2_HUMAN	Y	154;326;82	ENSP00000236877:H326Y;ENSP00000437536:H82Y	ENSP00000236877:H326Y	H	-	1	0	SLC8A2	52652363	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.353000	0.34045	1.823000	0.53134	0.313000	0.20887	CAC	SLC8A2	-	tigrfam_Na_Ca_Ex	ENSG00000118160		0.692	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	-	0	13	0	G			47960551	-1	tier1	-	no_errors	ENST00000236877	ensembl	human	known	74_37	missense	66.67	5	10	SNP	1.000	A	A	47960551	G	A	47960551	3	1	171	1	0	0	0	0	1	0	0	0	14752	1319	46	3	1821	3	SLC8A2	19	47960551	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	5169375	47960551	11168432	154	43127											
LMTK3	114783	genome.wustl.edu	37	chr19	49002994	49002994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacggtgaggagagggtcccCgggcggggcgcactgtgtgc	6	5	20	10	4	0	2	0	1	0	1	1	3	1	2	2	6	2	1	2	6	1	0			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr19:49002994C>T	ENST00000600059.1	-	11	1559	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	LMTK3_ENST00000270238.3_Silent_p.P473P			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	444	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)		AGAGGGTCCCCGGGCGGGGCG	0.736																																																	0													2	2	2					19																	49002994		1334	3128	4462	SO:0001819	synonymous_variant	0			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.1332G>A	19.37:g.49002994C>T			Q4G0U1	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P473	ENST00000600059.1	37	c.1419		19																																																																																			LMTK3	-	smart_Ser/Thr_dual-sp_kinase_dom	ENSG00000142235		0.736	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1		0	37	0	C	NM_052895		49002994	-1			no_errors	ENST00000270238	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.935	T	T	49002994	C	T	49002994	2	4	171	1	0	0	0	0	0	0	0	1	8890	639	23	1		1	LMTK3	19	49002994	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09	1042443	49002994	10125989	155	43128											
POLD1	5424	genome.wustl.edu	37	chr19	50905960	50905960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcattgcgcccttgcGcgtgctcagcttcgatatcg	5	10	12	14	6	1	0	1	0	0	0	3	1	1	0	1	0	5	4	1	0	1	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr19:50905960G>C	ENST00000440232.2	+	8	985	c.932G>C	c.(931-933)cGc>cCc	p.R311P	POLD1_ENST00000595904.1_Missense_Mutation_p.R311P|POLD1_ENST00000599857.1_Missense_Mutation_p.R311P	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	311					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)		GCGCCCTTGCGCGTGCTCAGC	0.672								DNA polymerases (catalytic subunits)																																									0													27	26	26					19																	50905960		2202	4297	6499	SO:0001583	missense	0				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.932G>C	19.37:g.50905960G>C	ENSP00000406046:p.Arg311Pro		Q8NER3|Q96H98	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.R311P	ENST00000440232.2	37	c.932	CCDS12795.1	19	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294904	0.60086	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.12774	2.65	4.69	2.32	0.28847	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.068072	0.64402	N	0.000019	T	0.44726	0.1307	M	0.92268	3.29	0.58432	D	0.999999	D;D	0.89917	0.973;1.0	P;D	0.91635	0.906;0.999	T	0.60791	-0.7193	10	0.87932	D	0	-11.8143	13.4259	0.61026	0.0:0.3003:0.6997:0.0	.	311;311	E7EVW0;P28340	.;DPOD1_HUMAN	P	311;312	ENSP00000406046:R311P	ENSP00000366129:R312P	R	+	2	0	POLD1	55597772	1.000000	0.71417	0.976000	0.42696	0.203000	0.24098	5.595000	0.67563	1.084000	0.41184	0.491000	0.48974	CGC	POLD1	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	ENSG00000062822		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	-	0	39	0	G			50905960	1	tier1	-	no_errors	ENST00000440232	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.992	C	C	50905960	G	C	50905960	3	2	171	1	0	0	0	0	1	0	0	0	12229	1087	38	5	958	5	POLD1	19	50905960	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	1902966	50905960	8223023	156	43129											
ZNF160	90338	genome.wustl.edu	37	chr19	53571879	53571879	+	Silent	SNP	A	A	G	1	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	tgaattcgccgatgagttgcAaggtatgaattgtgcctaaa	12	12	11	6	2	0	3	0	3	0	0	1	4	0	3	2	1	2	3	2	1	6	5			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr19:53571879A>G	ENST00000429604.1	-	7	2323	c.1908T>C	c.(1906-1908)ctT>ctC	p.L636L	ZNF160_ENST00000599056.1_Silent_p.L636L|ZNF160_ENST00000418871.1_Silent_p.L636L|ZNF160_ENST00000601421.1_Silent_p.L600L	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	636					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)		GATGAGTTGCAAGGTATGAAT	0.408																																																	0													108	106	107					19																	53571879		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1908T>C	19.37:g.53571879A>G			Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L636	ENST00000429604.1	37	c.1908	CCDS12859.1	19																																																																																			ZNF160	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170949		0.408	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	-	0	104	0	A	NM_033288		53571879	-1	tier1	-	no_errors	ENST00000418871	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.002	G	G	53571879	A	G	53571879	2	3	171	1	0	0	0	0	0	0	0	1	17787	117	5	4		4	ZNF160	19	53571879	Silent	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	2665919	53571879	5557104	157	43130											
SUN5	140732	genome.wustl.edu	37	chr20	31571644	31571644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggtgaggctgctctctggGcggggccacagagccatgca	6	7	16	12	1	1	2	0	1	1	1	2	2	1	2	2	5	3	3	2	5	0	0			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr20:31571644G>T	ENST00000356173.3	-	13	1188	c.1096C>A	c.(1096-1098)Ccc>Acc	p.P366T	SUN5_ENST00000375523.3_Missense_Mutation_p.P341T	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	366					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGCTCTCTGGGCGGGGCCACA	0.557																																																	0													74	85	81					20																	31571644		2203	4300	6503	SO:0001583	missense	0			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	613942	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.1096C>A	20.37:g.31571644G>T	ENSP00000348496:p.Pro366Thr		A6NJ82|Q5T9R0	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.P366T	ENST00000356173.3	37	c.1096	CCDS13209.1	20	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962831	0.53507	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.12147	2.71;2.74	5.16	5.16	0.70880	.	0.161766	0.40144	N	0.001166	T	0.25044	0.0608	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01617	-1.1311	10	0.66056	D	0.02	-26.7185	14.1711	0.65510	0.0:0.0:1.0:0.0	.	366	Q8TC36	SUN5_HUMAN	T	366;341	ENSP00000348496:P366T;ENSP00000364673:P341T	ENSP00000348496:P366T	P	-	1	0	SUN5	31035305	0.995000	0.38212	0.095000	0.20976	0.004000	0.04260	2.587000	0.46128	2.408000	0.81797	0.655000	0.94253	CCC	SUN5	-	NULL	ENSG00000167098		0.557	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	-	0	74	0	G	NM_080675		31571644	-1	tier1	-	no_errors	ENST00000356173	ensembl	human	known	74_37	missense	10.10	89	10	SNP	0.451	T	T	31571644	G	T	31571644	3	4	171	1	0	0	0	0	1	0	0	0	15441	1203	42	3	47	3	SUN5	20	31571644	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09		31571644	31453876	158	43131											
C20orf70	140683	genome.wustl.edu	37	chr20	31767414	31767414	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctttctccgctgtcagatatGtccactgatccgcatcttca	7	14	6	14	2	4	2	2	1	2	1	7	2	6	2	3	0	0	2	3	0	1	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr20:31767414G>T	ENST00000253362.2	+	7	796	c.650G>T	c.(649-651)tGt>tTt	p.C217F	BPIFA2_ENST00000354932.5_Missense_Mutation_p.C217F			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	217						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										TGTCAGATATGTCCACTGATC	0.512																																																	0													170	157	162					20																	31767414		2203	4300	6503	SO:0001583	missense	0			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"BPI fold containing"	16203	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 70"	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.650G>T	20.37:g.31767414G>T	ENSP00000253362:p.Cys217Phe		Q9BQQ0	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.C217F	ENST00000253362.2	37	c.650	CCDS13214.1	20	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138912	0.37728	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.34275	1.37;1.37	3.26	3.26	0.37387	.	0.341742	0.21687	N	0.070637	T	0.46600	0.1401	L	0.36672	1.1	0.09310	N	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.15809	-1.0424	10	0.87932	D	0	-0.2615	10.2867	0.43570	0.0:0.0:1.0:0.0	.	217	Q96DR5	BPIA2_HUMAN	F	217	ENSP00000253362:C217F;ENSP00000347012:C217F	ENSP00000253362:C217F	C	+	2	0	BPIFA2	31231075	0.978000	0.34361	0.142000	0.22268	0.007000	0.05969	3.377000	0.52425	2.138000	0.66242	0.561000	0.74099	TGT	BPIFA2	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000131050		0.512	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA2	HGNC	protein_coding	OTTHUMT00000257117.1		0	45	0	G	NM_080574		31767414	1			no_errors	ENST00000253362	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.144	T	T	31767414	G	T	31767414	3	4	171	1	0	0	0	0	1	0	0	0	2123	1377	48	3	672	3	C20orf70	20	31767414	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	195770	31767414	31258106	159	43132											
NCOA6	23054	genome.wustl.edu	37	chr20	33330742	33330742	+	Silent	SNP	T	T	C	0	1	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	accattttccttgaattgctTcccaagggagtattcacagg	10	13	8	10	0	1	1	1	1	0	0	3	2	3	2	3	2	1	2	3	2	3	7			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr20:33330742T>C	ENST00000374796.2	-	12	5888	c.3318A>G	c.(3316-3318)ggA>ggG	p.G1106G	NCOA6_ENST00000359003.2_Silent_p.G1106G			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1106	NCOA1-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						TTGAATTGCTTCCCAAGGGAG	0.542																																																	0													91	92	92					20																	33330742		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3318A>G	20.37:g.33330742T>C			A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	NULL	p.G1106	ENST00000374796.2	37	c.3318	CCDS13241.1	20																																																																																			NCOA6	-	NULL	ENSG00000198646		0.542	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	-	0	50	0	T	NM_014071		33330742	-1	tier1	-	no_errors	ENST00000359003	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	C	C	33330742	T	C	33330742	2	2	171	1	0	0	0	0	0	0	0	1	10272	1770	62	4		4	NCOA6	20	33330742	Silent	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	1563328	33330742	29694778	160	43133											
EMILIN3	90187	genome.wustl.edu	37	chr20	39990470	39990470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagagtgatctcgccttgaAgtgagctgcccgtcccttct	6	11	11	13	2	2	4	0	3	2	1	4	4	3	4	3	0	2	2	3	0	1	2			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr20:39990470A>G	ENST00000332312.3	-	4	1931	c.1739T>C	c.(1738-1740)cTt>cCt	p.L580P		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	580						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTCGCCTTGAAGTGAGCTGCC	0.592																																																	0													110	93	99					20																	39990470		2203	4300	6503	SO:0001583	missense	0			AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1739T>C	20.37:g.39990470A>G	ENSP00000332806:p.Leu580Pro		Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	pfam_EMI_domain,pfscan_EMI_domain	p.L580P	ENST00000332312.3	37	c.1739	CCDS13316.1	20	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499446	0.44455	.	.	ENSG00000183798	ENST00000332312	T	0.78481	-1.18	4.86	4.86	0.63082	.	0.156761	0.44483	D	0.000445	D	0.85128	0.5626	L	0.58101	1.795	0.37898	D	0.930959	D	0.89917	1.0	D	0.87578	0.998	D	0.86571	0.1847	9	.	.	.	-14.3326	14.4539	0.67404	1.0:0.0:0.0:0.0	.	580	Q9NT22	EMIL3_HUMAN	P	580	ENSP00000332806:L580P	.	L	-	2	0	EMILIN3	39423884	0.976000	0.34144	0.818000	0.32626	0.881000	0.50899	8.816000	0.91979	1.811000	0.52892	0.459000	0.35465	CTT	EMILIN3	-	NULL	ENSG00000183798		0.592	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN3	HGNC	protein_coding	OTTHUMT00000106876.2		0	33	0	A	XM_029741		39990470	-1			no_errors	ENST00000332312	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.299	G	G	39990470	A	G	39990470	3	3	171	1	0	0	0	0	1	0	0	0	5111	72	3	4	565	4	EMILIN3	20	39990470	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	6659728	39990470	23035050	161	43134											
ZFP64	55734	genome.wustl.edu	37	chr20	50701305	50701305	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	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	ctcacagcggaaggccctctGcgtcacgatcttggccacgt	7	8	11	15	4	4	0	2	0	2	0	4	2	4	1	2	3	2	0	2	3	1	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr20:50701305G>A	ENST00000361387.2	-	9	1789	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Nonsense_Mutation_p.Q358*	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	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)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGGCCCTCTGCGTCACGATC	0.612																																																	0													58	47	50					20																	50701305		2203	4300	6503	SO:0001587	stop_gained	0			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.1729C>T	20.37:g.50701305G>A	ENSP00000355179:p.Gln577*		Q9NTS7|Q9NVH4	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q577*	ENST00000361387.2	37	c.1729	CCDS13439.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.632900	0.96682	.	.	ENSG00000020256	ENST00000371523;ENST00000361387	.	.	.	4.4	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.1624	0.42860	0.0:0.0:0.6061:0.3939	.	.	.	.	X	358;577	.	ENSP00000355179:Q577X	Q	-	1	0	ZFP64	50134712	1.000000	0.71417	0.978000	0.43139	0.954000	0.61252	3.974000	0.56852	2.440000	0.82611	0.655000	0.94253	CAG	ZFP64	-	NULL	ENSG00000020256		0.612	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079743.2	-	0	33	0	G	NM_018197		50701305	-1	tier1	-	no_errors	ENST00000361387	ensembl	human	known	74_37	nonsense	10.81	33	4	SNP	0.994	A	A	50701305	G	A	50701305	4	1	171	1	0	0	0	0	0	1	0	0	17700	1328	46	3	212	3	ZFP64	20	50701305	Nonsense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	10710835	50701305	12324215	162	43135											
MYT1	4661	genome.wustl.edu	37	chr20	62871250	62871250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccaatatccgccttccGcacatggtaggcagcacgcg	8	7	10	16	5	0	0	0	0	0	0	3	0	2	0	4	2	1	4	4	2	3	3	rs149774713		TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr20:62871250G>A	ENST00000328439.1	+	22	3595	c.3231G>A	c.(3229-3231)ccG>ccA	p.P1077P	MYT1_ENST00000536311.1_Silent_p.P1104P	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)					TCCGCCTTCCGCACATGGTAG	0.622																																					GBM(59;481 1041 20555 21139 33705)												0								G		1,4405	2.1+/-5.4	0,1,2202	88	93	92		3231	-11.6	0.1	20	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous	MYT1	NM_004535.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1077/1122	62871250	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.3231G>A	20.37:g.62871250G>A			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.P1104	ENST00000328439.1	37	c.3312	CCDS13558.1	20																																																																																			MYT1	-	NULL	ENSG00000196132		0.622	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	-	0	68	0	G	NM_004535		62871250	1	tier1	rs149774713	no_errors	ENST00000536311	ensembl	human	known	74_37	silent	10.17	53	6	SNP	0.018	A	A	62871250	G	A	62871250	2	1	171	1	0	0	0	0	0	0	0	1	10144	1074	38	1		1	MYT1	20	62871250	Silent	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	12169945	62871250	154270	163	43136											
RANBP1	5902	genome.wustl.edu	37	chr22	20109826	20109826	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttgcctctgagaacgatctCccagaatggaaggagcgagg	11	8	13	9	2	2	2	0	1	2	2	3	7	2	4	2	3	3	0	2	3	3	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr22:20109826C>G	ENST00000331821.3	+	3	294	c.192C>G	c.(190-192)ctC>ctG	p.L64L	RANBP1_ENST00000402752.1_Silent_p.L64L|RANBP1_ENST00000430524.1_5'UTR	NM_002882.2	NP_002873.1	P43487	RANG_HUMAN	RAN binding protein 1	64	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)					AGAACGATCTCCCAGAATGGA	0.577																																																	0													77	67	70					22																	20109826		2202	4299	6501	SO:0001819	synonymous_variant	0			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.192C>G	22.37:g.20109826C>G			Q53EY3	Silent	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.L64	ENST00000331821.3	37	c.192	CCDS13775.1	22																																																																																			RANBP1	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000099901		0.577	RANBP1-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP1	HGNC	protein_coding	OTTHUMT00000343733.1	-	0	27	0	C	NM_002882		20109826	1	tier1	-	no_errors	ENST00000331821	ensembl	human	known	74_37	silent	34.29	22	12	SNP	0.833	G	G	20109826	C	G	20109826	2	3	171	1	0	0	0	0	0	0	0	1	13070	842	30	5		5	RANBP1	22	20109826	Silent	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09		20109826	31194740	164	43137											
ZNF70	7621	genome.wustl.edu	37	chr22	24087105	24087105	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggggatactttgatgctGaacagggcttgagcacaaac	11	9	14	7	0	0	3	0	3	0	0	0	4	0	4	0	4	5	3	0	4	3	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr22:24087105G>A	ENST00000341976.3	-	2	683	c.223C>T	c.(223-225)Cag>Tag	p.Q75*		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	75					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CTTTGATGCTGAACAGGGCTT	0.493																																																	0													133	129	130					22																	24087105		2203	4300	6503	SO:0001587	stop_gained	0			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.223C>T	22.37:g.24087105G>A	ENSP00000339314:p.Gln75*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q75*	ENST00000341976.3	37	c.223	CCDS13812.1	22	.	.	.	.	.	.	.	.	.	.	G	38	6.682611	0.97759	.	.	ENSG00000187792	ENST00000341976	.	.	.	3.48	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9002	0.47047	0.0:0.1934:0.8065:0.0	.	.	.	.	X	75	.	ENSP00000339314:Q75X	Q	-	1	0	ZNF70	22417105	0.000000	0.05858	0.047000	0.18901	0.959000	0.62525	-0.897000	0.04110	1.010000	0.39314	0.585000	0.79938	CAG	ZNF70	-	NULL	ENSG00000187792		0.493	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF70	HGNC	protein_coding	OTTHUMT00000319881.1	-	0	65	0	G	NM_021916		24087105	-1	tier1	-	no_errors	ENST00000341976	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	0.143	A	A	24087105	G	A	24087105	4	1	171	1	0	0	0	0	0	1	0	0	18151	1299	45	3	1121	3	ZNF70	22	24087105	Nonsense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	3977279	24087105	27217461	165	43138											
CBX6	23466	genome.wustl.edu	37	chr22	39262318	39262318	+	Missense_Mutation	SNP	T	T	C	0	1	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	gaattccttgattgtgaccgTcaggaggttgctggtgacat	8	13	13	7	1	1	3	1	3	0	0	2	5	2	4	2	3	1	2	2	3	1	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chr22:39262318T>C	ENST00000407418.3	-	5	1258	c.1135A>G	c.(1135-1137)Acg>Gcg	p.T379A	CBX6_ENST00000216083.6_Missense_Mutation_p.T361A			O95503	CBX6_HUMAN	chromobox homolog 6	379					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					ATTGTGACCGTCAGGAGGTTG	0.652																																																	0													54	55	55					22																	39262318		2203	4300	6503	SO:0001583	missense	0				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.1135A>G	22.37:g.39262318T>C	ENSP00000384490:p.Thr379Ala		A8KAH0|Q96EM5	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.T379A	ENST00000407418.3	37	c.1135	CCDS13980.1	22	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161075	0.78226	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.23	4.23	0.50019	.	0.000000	0.53938	D	0.000056	T	0.78104	0.4231	M	0.78456	2.415	0.49299	D	0.999777	D	0.76494	0.999	D	0.76071	0.987	T	0.81667	-0.0829	9	0.87932	D	0	.	13.4862	0.61366	0.0:0.0:0.0:1.0	.	379	O95503	CBX6_HUMAN	A	379;361	.	ENSP00000216083:T361A	T	-	1	0	CBX6	37592264	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.207000	0.77899	1.773000	0.52216	0.334000	0.21626	ACG	CBX6	-	NULL	ENSG00000183741		0.652	CBX6-001	KNOWN	basic|CCDS	protein_coding	CBX6	HGNC	protein_coding	OTTHUMT00000318190.1	-	0	86	0	T	NM_014292		39262318	-1	tier1	-	no_errors	ENST00000407418	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	C	C	39262318	T	C	39262318	3	2	171	1	0	0	0	0	1	0	0	0	2729	1667	58	4	107	4	CBX6	22	39262318	Missense_Mutation	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	15175213	39262318	12042248	166	43139											
ARHGAP6	395	genome.wustl.edu	37	chrX	11206970	11206970	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttttgtcttttatttcCaaatgggaggagggaagcca	9	16	11	5	0	1	0	0	0	1	0	2	3	2	3	2	3	1	1	2	3	3	6			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chrX:11206970C>A	ENST00000337414.4	-	4	1827	c.955G>T	c.(955-957)Gga>Tga	p.G319*	ARHGAP6_ENST00000380736.1_Nonsense_Mutation_p.G116*|ARHGAP6_ENST00000380732.3_Nonsense_Mutation_p.G351*|ARHGAP6_ENST00000380718.1_Nonsense_Mutation_p.G319*|ARHGAP6_ENST00000303025.6_Nonsense_Mutation_p.G116*|ARHGAP6_ENST00000413512.3_Nonsense_Mutation_p.G128*|ARHGAP6_ENST00000534860.1_Nonsense_Mutation_p.G144*	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	319					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						CTTTTATTTCCAAATGGGAGG	0.478																																																	0													120	91	101					X																	11206970		2203	4300	6503	SO:0001587	stop_gained	0			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.955G>T	X.37:g.11206970C>A	ENSP00000338967:p.Gly319*		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.G319*	ENST00000337414.4	37	c.955	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	C	46	12.740013	0.99692	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	.	.	.	5.66	5.66	0.87406	.	0.000000	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	18.7976	0.92001	0.0:1.0:0.0:0.0	.	.	.	.	X	144;116;116;319;155;319;128;351	.	ENSP00000302312:G116X	G	-	1	0	ARHGAP6	11116891	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.299000	0.59073	2.385000	0.81259	0.600000	0.82982	GGA	ARHGAP6	-	NULL	ENSG00000047648		0.478	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	-	0	22	0	C	NM_013427		11206970	-1	tier1	-	no_errors	ENST00000337414	ensembl	human	known	74_37	nonsense	17.39	19	4	SNP	1.000	A	A	11206970	C	A	11206970	4	1	171	1	0	0	0	0	0	1	0	0	887	603	21	3	2131	3	ARHGAP6	23	11206970	Nonsense_Mutation	SNP	C	TCGA-VR-A8Q7-01A-11D-A37C-09		11206970	144063590	167	43140											
FRMPD4	9758	genome.wustl.edu	37	chrX	12734448	12734448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtgaggcagactacagaAgtctagctcagcggtcccta	10	8	11	12	1	2	3	1	1	1	2	3	3	3	3	2	2	3	2	2	2	4	3			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chrX:12734448A>G	ENST00000380682.1	+	15	2376	c.1870A>G	c.(1870-1872)Agt>Ggt	p.S624G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	624					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						AGACTACAGAAGTCTAGCTCA	0.517																																																	0													82	83	83					X																	12734448		2203	4300	6503	SO:0001583	missense	0			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.1870A>G	X.37:g.12734448A>G	ENSP00000370057:p.Ser624Gly		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.S624G	ENST00000380682.1	37	c.1870	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	A	4.958	0.177993	0.09443	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.23348	1.91	5.86	2.13	0.27403	.	0.461374	0.27000	N	0.021431	T	0.10337	0.0253	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24941	-1.0146	10	0.29301	T	0.29	.	5.9851	0.19430	0.6639:0.1385:0.1976:0.0	.	616;624	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	G	624;615;613	ENSP00000370057:S624G	ENSP00000304583:S613G	S	+	1	0	FRMPD4	12644369	0.672000	0.27530	0.126000	0.21872	0.717000	0.41224	0.808000	0.27154	0.305000	0.22832	0.486000	0.48141	AGT	FRMPD4	-	NULL	ENSG00000169933		0.517	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1		0	14	0	A	XM_045712		12734448	1			no_errors	ENST00000380682	ensembl	human	known	74_37	missense	63.64	4	7	SNP	0.122	G	G	12734448	A	G	12734448	3	3	171	1	0	0	0	0	1	0	0	0	6083	72	3	4	1928	4	FRMPD4	23	12734448	Missense_Mutation	SNP	A	TCGA-VR-A8Q7-01A-11D-A37C-09	1527478	12734448	142536112	168	43141											
PHKA2	5256	genome.wustl.edu	37	chrX	18954191	18954191	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttgttaggcgggacagcGtagagttcaggcaccaggcg	9	7	15	10	3	1	1	1	0	0	1	1	2	1	2	2	4	1	4	2	4	2	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chrX:18954191G>C	ENST00000379942.4	-	11	1784	c.1119C>G	c.(1117-1119)taC>taG	p.Y373*		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	373					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)					GCGGGACAGCGTAGAGTTCAG	0.522																																																	0													121	87	98					X																	18954191		2203	4300	6503	SO:0001587	stop_gained	0				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.1119C>G	X.37:g.18954191G>C	ENSP00000369274:p.Tyr373*		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Nonsense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.Y373*	ENST00000379942.4	37	c.1119	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	G	40	8.050366	0.98629	.	.	ENSG00000044446	ENST00000379942	.	.	.	5.61	-5.04	0.02964	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8795	13.66	0.62361	0.4514:0.0:0.5486:0.0	.	.	.	.	X	373	.	ENSP00000369274:Y373X	Y	-	3	2	PHKA2	18864112	0.002000	0.14202	0.986000	0.45419	0.108000	0.19459	-1.137000	0.03219	-0.621000	0.05633	-0.443000	0.05667	TAC	PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	ENSG00000044446		0.522	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	-	0	18	0	G	NM_000292		18954191	-1	tier1	-	no_errors	ENST00000379942	ensembl	human	known	74_37	nonsense	42.86	8	6	SNP	0.986	C	C	18954191	G	C	18954191	4	2	171	1	0	0	0	0	0	1	0	0	11883	1140	40	5	2680	5	PHKA2	23	18954191	Nonsense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	6219743	18954191	136316369	169	43142											
IRS4	8471	genome.wustl.edu	37	chrX	107977530	107977530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtggggacctcgagctGcaccttctgggatctctgca	5	11	12	13	1	3	0	0	0	3	0	5	3	3	2	2	3	3	3	2	3	0	1			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chrX:107977530G>A	ENST00000372129.2	-	1	2121	c.2045C>T	c.(2044-2046)gCa>gTa	p.A682V	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	682	CRK-binding.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ACCTCGAGCTGCACCTTCTGG	0.507																																																	0													240	232	235					X																	107977530		2203	4300	6503	SO:0001583	missense	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2045C>T	X.37:g.107977530G>A	ENSP00000361202:p.Ala682Val			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.A682V	ENST00000372129.2	37	c.2045	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353814	0.24512	.	.	ENSG00000133124	ENST00000372129	T	0.35421	1.31	5.22	4.33	0.51752	.	0.270103	0.28834	N	0.013990	T	0.28699	0.0711	L	0.51422	1.61	0.25797	N	0.98455	P	0.42456	0.78	B	0.34590	0.186	T	0.11108	-1.0601	10	0.26408	T	0.33	-4.7217	12.0565	0.53538	0.0:0.1705:0.8295:0.0	.	682	O14654	IRS4_HUMAN	V	682	ENSP00000361202:A682V	ENSP00000361202:A682V	A	-	2	0	IRS4	107864186	1.000000	0.71417	0.592000	0.28758	0.503000	0.33858	2.542000	0.45744	1.122000	0.41944	0.600000	0.82982	GCA	IRS4	-	NULL	ENSG00000133124		0.507	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	-	0	51	0	G	NM_003604		107977530	-1	tier1	-	no_errors	ENST00000372129	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.969	A	A	107977530	G	A	107977530	3	1	171	1	0	0	0	0	1	0	0	0	7869	1319	46	3	1732	3	IRS4	23	107977530	Missense_Mutation	SNP	G	TCGA-VR-A8Q7-01A-11D-A37C-09	89023339	107977530	47293030	170	43143											
AGTR2	186	genome.wustl.edu	37	chrX	115304321	115304321	+	Missense_Mutation	SNP	T	T	C	0	1	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	gatggcagctgctgttgttcTggccttcatcatttgctggc	4	15	12	10	0	3	0	2	0	1	0	3	1	3	0	1	3	3	6	1	3	0	4			TCGA-VR-A8Q7-01A-11D-A37C-09	TCGA-VR-A8Q7-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7145197-3b67-4711-9569-3fee8911f214	b97bffec-210a-4795-a4f5-4711185cba7c	g.chrX:115304321T>C	ENST00000371906.4	+	3	978	c.788T>C	c.(787-789)cTg>cCg	p.L263P		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	263					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	GCTGTTGTTCTGGCCTTCATC	0.458																																																	0													247	170	196					X																	115304321		2203	4300	6503	SO:0001583	missense	0			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.788T>C	X.37:g.115304321T>C	ENSP00000360973:p.Leu263Pro		B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L263P	ENST00000371906.4	37	c.788	CCDS14569.1	X	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249603	0.59212	.	.	ENSG00000180772	ENST00000371906	T	0.46451	0.87	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.350085	0.27464	N	0.019254	T	0.71879	0.3392	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79217	-0.1894	10	0.87932	D	0	-2.6468	11.2051	0.48765	0.0:0.0:0.0:1.0	.	263	P50052	AGTR2_HUMAN	P	263	ENSP00000360973:L263P	ENSP00000360973:L263P	L	+	2	0	AGTR2	115218349	1.000000	0.71417	0.983000	0.44433	0.983000	0.72400	3.929000	0.56514	1.771000	0.52183	0.412000	0.27726	CTG	AGTR2	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180772		0.458	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGTR2	HGNC	protein_coding	OTTHUMT00000057984.1	-	0	23	0	T	NM_000686		115304321	1	tier1	-	no_errors	ENST00000371906	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.999	C	C	115304321	T	C	115304321	3	2	171	1	0	0	0	0	1	0	0	0	402	1580	55	4	790	4	AGTR2	23	115304321	Missense_Mutation	SNP	T	TCGA-VR-A8Q7-01A-11D-A37C-09	7326791	115304321	39966239	171	43144											
MEGF6	1953	genome.wustl.edu	37	chr1	3413291	3413291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcatcacaggagccccCgttgagacacccacacagct	10	4	10	17	2	1	1	1	1	0	1	1	3	1	2	4	2	2	3	4	2	0	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:3413291C>T	ENST00000356575.4	-	29	3896	c.3670G>A	c.(3670-3672)Ggg>Agg	p.G1224R	MEGF6_ENST00000294599.4_Missense_Mutation_p.G989R	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1224	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CAGGAGCCCCCGTTGAGACAC	0.687																																					Ovarian(73;978 3658)												0													15	20	18					1																	3413291		1962	4107	6069	SO:0001583	missense	0			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.3670G>A	1.37:g.3413291C>T	ENSP00000348982:p.Gly1224Arg		Q4AC86|Q5VV39	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.G1224R	ENST00000356575.4	37	c.3670	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869621	0.33069	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.78003	-1.14;-1.14	4.25	4.25	0.50352	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87767	0.6260	H	0.95574	3.69	0.45035	D	0.998054	P;D	0.54601	0.944;0.967	B;P	0.50270	0.433;0.636	D	0.91879	0.5514	10	0.72032	D	0.01	-26.754	15.4127	0.74941	0.0:1.0:0.0:0.0	.	1224;989	O75095;O75095-2	MEGF6_HUMAN;.	R	989;1224	ENSP00000294599:G989R;ENSP00000348982:G1224R	ENSP00000294599:G989R	G	-	1	0	MEGF6	3403151	0.001000	0.12720	0.022000	0.16811	0.864000	0.49448	0.423000	0.21313	2.209000	0.71365	0.655000	0.94253	GGG	MEGF6	-	superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin	ENSG00000162591		0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	-	0	35	0	C	NM_001409		3413291	-1	tier1	-	no_errors	ENST00000356575	ensembl	human	known	74_37	missense	66.67	10	20	SNP	0.942	T	T	3413291	C	T	3413291	3	4	172	1	0	0	0	0	1	0	0	0	9500	652	23	1	991	1	MEGF6	1	3413291	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09		3413291	245837330	1	43145											
PAX7	5081	genome.wustl.edu	37	chr1	19029767	19029767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccaaccacatgaacccgGtcagcaacggcctgtctcct	9	7	7	18	2	2	1	1	1	1	0	4	1	3	1	6	2	4	1	6	2	3	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:19029767G>C	ENST00000375375.3	+	7	1730	c.1132G>C	c.(1132-1134)Gtc>Ctc	p.V378L	PAX7_ENST00000400661.3_Missense_Mutation_p.V376L|PAX7_ENST00000420770.2_Missense_Mutation_p.V378L	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	378					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)		CATGAACCCGGTCAGCAACGG	0.627			T	FOXO1A	alveolar rhabdomyosarcoma																																			Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													53	54	54					1																	19029767		2203	4300	6503	SO:0001583	missense	0			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.1132G>C	1.37:g.19029767G>C	ENSP00000364524:p.Val378Leu		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom	p.V378L	ENST00000375375.3	37	c.1132	CCDS186.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298001	0.60086	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	T;T;T	0.79033	-1.23;-1.23;-1.23	5.41	5.41	0.78517	.	15.933600	0.01166	U	0.006740	T	0.78400	0.4277	L	0.40543	1.245	0.53688	D	0.999978	B;B;B	0.20261	0.017;0.043;0.008	B;B;B	0.25140	0.058;0.05;0.044	T	0.37430	-0.9706	10	0.33141	T	0.24	.	18.1238	0.89580	0.0:0.0:1.0:0.0	.	378;376;378	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	L	378;378;376	ENSP00000364524:V378L;ENSP00000403389:V378L;ENSP00000383502:V376L	ENSP00000364524:V378L	V	+	1	0	PAX7	18902354	1.000000	0.71417	0.972000	0.41901	0.829000	0.46940	9.210000	0.95106	2.698000	0.92095	0.561000	0.74099	GTC	PAX7	-	pfam_Pax7	ENSG00000009709		0.627	PAX7-001	KNOWN	basic|CCDS	protein_coding	PAX7	HGNC	protein_coding	OTTHUMT00000006928.1	-	0	70	0	G	NM_002584		19029767	1	tier1	-	no_errors	ENST00000375375	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.999	C	C	19029767	G	C	19029767	3	2	172	1	0	0	0	0	1	0	0	0	11523	1261	44	5	1158	5	PAX7	1	19029767	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	15616476	19029767	230220854	2	43146											
NBPF3	84224	genome.wustl.edu	37	chr1	21807427	21807427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatttattgcaggaatGaaaaaggaccaagaagagga	18	8	11	4	0	1	4	0	2	1	2	1	7	1	7	1	3	1	1	1	3	7	3	rs116579083		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:21807427G>T	ENST00000318249.5	+	12	1736	c.1386G>T	c.(1384-1386)atG>atT	p.M462I	NBPF3_ENST00000454000.2_Missense_Mutation_p.M392I|NBPF3_ENST00000318220.6_Missense_Mutation_p.M406I|NBPF3_ENST00000342104.5_Missense_Mutation_p.M450I	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	462	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.M462I(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)		TTGCAGGAATGAAAAAGGACC	0.478																																																	1	Substitution - Missense(1)	skin(1)											90	130	116					1																	21807427		2186	4299	6485	SO:0001583	missense	0			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.1386G>T	1.37:g.21807427G>T	ENSP00000316782:p.Met462Ile		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	pfam_NBPF_dom	p.M462I	ENST00000318249.5	37	c.1386	CCDS216.1	1	.	.	.	.	.	.	.	.	.	.	.	0	-2.689380	0.00100	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.02552	4.25;4.52;4.51;4.53;4.55	0.573	-1.15	0.09709	DUF1220 (1);	.	.	.	.	T	0.00524	0.0017	N	0.00082	-2.215	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	0.34254	-0.9836	8	0.06891	T	0.86	.	.	.	.	.	392;450;462	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	I	392;406;462;450;406	ENSP00000415711:M392I;ENSP00000316739:M406I;ENSP00000316782:M462I;ENSP00000340336:M450I;ENSP00000391865:M406I	ENSP00000316739:M406I	M	+	3	0	NBPF3	21680014	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-1.864000	0.01650	-2.598000	0.00452	-2.245000	0.00285	ATG	NBPF3	-	NULL	ENSG00000142794		0.478	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBPF3	HGNC	protein_coding			0	30	0	G	NM_032264		21807427	1			no_errors	ENST00000318249	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.000	T	T	21807427	G	T	21807427	3	4	172	1	0	0	0	0	1	0	0	0	10236	1290	45	3	1428	3	NBPF3	1	21807427	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	2777660	21807427	227443194	3	43147											
IL22RA1	58985	genome.wustl.edu	37	chr1	24447325	24447325	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactgcacagtcagggccagGcctctgaaaagagaatccag	13	5	11	12	0	2	2	1	1	1	1	3	3	3	2	3	2	1	1	3	2	3	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:24447325G>T	ENST00000270800.1	-	7	1733	c.1695C>A	c.(1693-1695)ggC>ggA	p.G565G		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	565					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCAGGGCCAGGCCTCTGAAAA	0.582																																																	0													58	62	61					1																	24447325		2203	4300	6503	SO:0001819	synonymous_variant	0			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"Interleukins and interleukin receptors"	13700	protein-coding gene	gene with protein product		605457	"interleukin 22 receptor"	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1695C>A	1.37:g.24447325G>T			A8K839|B2R9Y9|Q9HB22	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.G565	ENST00000270800.1	37	c.1695	CCDS247.1	1																																																																																			IL22RA1	-	NULL	ENSG00000142677		0.582	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL22RA1	HGNC	protein_coding	OTTHUMT00000008412.1	-	0	36	0	G			24447325	-1	tier1	-	no_errors	ENST00000270800	ensembl	human	novel	74_37	silent	29.27	29	12	SNP	0.987	T	T	24447325	G	T	24447325	2	4	172	1	0	0	0	0	0	0	0	1	7700	1190	42	3		3	IL22RA1	1	24447325	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	2639898	24447325	224803296	4	43148											
CSMD2	114784	genome.wustl.edu	37	chr1	34080136	34080136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgctattttccaggagCagtccatgttactggggtag	8	12	13	8	0	0	0	0	0	0	0	2	1	2	1	2	3	3	5	2	3	3	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:34080136C>A	ENST00000373380.1	-	19	2940	c.2720G>T	c.(2719-2721)tGc>tTc	p.C907F	CSMD2_ENST00000373377.1_Missense_Mutation_p.C133F|CSMD2_ENST00000373388.2_Missense_Mutation_p.C133F|CSMD2_ENST00000373381.4_Missense_Mutation_p.C2034F			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1994	Sushi 5. {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)				TTTCCAGGAGCAGTCCATGTT	0.567																																																	0													92	84	87					1																	34080136		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2720G>T	1.37:g.34080136C>A	ENSP00000362478:p.Cys907Phe		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.C2034F	ENST00000373380.1	37	c.6101		1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798475	0.90538	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.47	5.47	0.80525	CUB (5);	0.112377	0.64402	D	0.000007	D	0.87030	0.6076	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	0.966;0.984;1.0	D;D;D	0.97110	0.921;0.969;1.0	D	0.91030	0.4863	10	0.59425	D	0.04	.	18.323	0.90244	0.0:1.0:0.0:0.0	.	907;1994;2034	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	F	2034;907;133;133	ENSP00000362479:C2034F;ENSP00000362478:C907F;ENSP00000362475:C133F;ENSP00000362486:C133F	ENSP00000241312:C1994F	C	-	2	0	CSMD2	33852723	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.570000	0.86706	0.655000	0.94253	TGC	CSMD2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000121904		0.567	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	-	0	64	0	C	NM_052896		34080136	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	50.98	25	26	SNP	1.000	A	A	34080136	C	A	34080136	3	1	172	1	0	0	0	0	1	0	0	0	3954	710	25	3	4602	3	CSMD2	1	34080136	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	9632811	34080136	215170485	5	43149											
TCTEX1D4	343521	genome.wustl.edu	37	chr1	45272226	45272226	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacctggacctgccggtcGggcctcatcaatgctgggca	6	8	14	13	2	2	0	2	0	0	0	3	2	2	2	4	5	2	2	4	5	1	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:45272226G>A	ENST00000339355.2	-	1	121	c.115C>T	c.(115-117)Cga>Tga	p.R39*	BTBD19_ENST00000453418.1_5'Flank|TCTEX1D4_ENST00000372200.1_Nonsense_Mutation_p.R39*|BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000450269.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	39						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCTGCCGGTCGGGCCTCATCA	0.736																																																	0													4	4	4					1																	45272226		2071	4089	6160	SO:0001587	stop_gained	0			BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"novel Tctex-1 family domain-containing protein"	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.115C>T	1.37:g.45272226G>A	ENSP00000341803:p.Arg39*			Nonsense_Mutation	SNP	pfam_Tctex	p.R39*	ENST00000339355.2	37	c.115	CCDS30699.1	1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557866	0.27827	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	.	.	.	5.38	1.03	0.20045	.	0.130292	0.30437	N	0.009635	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1012	7.8982	0.29719	0.0:0.2939:0.4037:0.3025	.	.	.	.	X	39	.	ENSP00000341803:R39X	R	-	1	2	TCTEX1D4	45044813	0.001000	0.12720	0.014000	0.15608	0.016000	0.09150	0.421000	0.21280	-0.069000	0.12931	0.555000	0.69702	CGA	TCTEX1D4	-	NULL	ENSG00000188396		0.736	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D4	HGNC	protein_coding	OTTHUMT00000023733.1	-	0	31	0	G	NM_001013632		45272226	-1	tier1	-	no_errors	ENST00000339355	ensembl	human	known	74_37	nonsense	31.25	22	10	SNP	0.002	A	A	45272226	G	A	45272226	4	1	172	1	0	0	0	0	0	1	0	0	15768	1124	39	1	554	1	TCTEX1D4	1	45272226	Nonsense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	11192090	45272226	203978395	6	43150											
EPS8L3	79574	genome.wustl.edu	37	chr1	110294817	110294817	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taacctatgacttccccgccTaagaaacagagtcaggatgg	13	8	9	11	1	1	3	1	1	0	2	2	4	2	4	4	2	2	0	4	2	4	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:110294817T>G	ENST00000361965.4	-	15	1342		c.e15-2		RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Intron|EPS8L3_ENST00000369805.3_Splice_Site	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3							cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTTCCCCGCCTAAGAAACAGA	0.562																																																	0													81	91	87					1																	110294817		2203	4300	6503	SO:0001630	splice_region_variant	0			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1236-2A>C	1.37:g.110294817T>G			A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Splice_Site	SNP	-	e14-2	ENST00000361965.4	37	c.1239-2	CCDS814.1	1	.	.	.	.	.	.	.	.	.	.	T	0.219	-1.030334	0.02045	.	.	ENSG00000198758	ENST00000369805;ENST00000361965	.	.	.	3.92	-7.73	0.01245	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1035	0.01689	0.3266:0.3197:0.2053:0.1484	.	.	.	.	.	-1	.	.	.	-	.	.	EPS8L3	110096340	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.602000	0.05680	-1.618000	0.01568	0.533000	0.62120	.	EPS8L3	-	-	ENSG00000198758		0.562	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1	-	0	68	0	T	NM_024526	Intron	110294817	-1	tier1	-	no_errors	ENST00000369805	ensembl	human	known	74_37	splice_site	10.00	45	5	SNP	0.000	G	G	110294817	T	G	110294817	5	3	172	1	0	0	0	0	0	0	1	0	5213	1536	53	4	567	4	EPS8L3	1	110294817	Splice_Site	SNP	T	TCGA-VR-AA4D-01A-11D-A37C-09	65022591	110294817	138955804	7	43151											
SLC16A1	6566	genome.wustl.edu	37	chr1	113464612	113464612	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatcagtagtaactcacCtccaatgactccaatacaga	16	9	5	11	0	2	3	2	2	0	1	4	3	4	3	3	0	2	2	3	0	6	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:113464612C>T	ENST00000538576.1	-	3	1192	c.361G>A	c.(361-363)Ggt>Agt	p.G121S	SLC16A1_ENST00000369626.3_Splice_Site_p.G121S|SLC16A1_ENST00000433570.4_Splice_Site_p.G121S	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	121					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AGTAACTCACCTCCAATGACT	0.408																																																	0													104	93	97					1																	113464612		2203	4300	6503	SO:0001630	splice_region_variant	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"Solute carriers"	10922	protein-coding gene	gene with protein product		600682	"solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.361+1G>A	1.37:g.113464612C>T			Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.G121S	ENST00000538576.1	37	c.361	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.148862	0.94645	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92678	0.7673	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	0.94151	0.7405	9	.	.	.	.	20.2476	0.98400	0.0:1.0:0.0:0.0	.	121;121	Q49A45;P53985	.;MOT1_HUMAN	S	121	ENSP00000358640:G121S;ENSP00000441065:G121S;ENSP00000416167:G121S;ENSP00000445061:G121S;ENSP00000399104:G121S;ENSP00000397106:G121S	.	G	-	1	0	SLC16A1	113266135	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	7.776000	0.85560	2.890000	0.99128	0.585000	0.79938	GGT	SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.408	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	-	0	37	0	C	NM_003051	Missense_Mutation	113464612	-1	tier1	-	no_errors	ENST00000369626	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	T	T	113464612	C	T	113464612	5	4	172	1	0	0	0	0	0	0	1	0	14447	695	24	3	1153	3	SLC16A1	1	113464612	Splice_Site	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	3169795	113464612	135786009	8	43152											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144930759	144930759	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttggctccaggtaggctgGatttcactggaatcggaagc	8	10	14	9	1	1	0	1	0	0	0	3	3	2	3	1	6	1	4	1	6	3	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:144930759G>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S317Y|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S317Y|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGTAGGCTGGATTTCACTGG	0.488			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													107	113	111					1																	144930759		2203	4300	6503	SO:0001627	intron_variant	0			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.637-6938C>A	1.37:g.144930759G>T			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	superfamily_ARM-type_fold	p.S317Y	ENST00000369354.3	37	c.950	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991030	0.74703	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.12569	2.67;2.67	5.58	4.66	0.58398	.	.	.	.	.	T	0.18173	0.0436	L	0.50333	1.59	0.80722	D	1	D	0.65815	0.995	P	0.61201	0.885	T	0.00169	-1.1962	9	0.72032	D	0.01	.	11.5362	0.50639	0.0858:0.0:0.9142:0.0	.	317	Q5VU43-2	.	Y	317	ENSP00000316434:S317Y;ENSP00000433392:S317Y	ENSP00000316434:S317Y	S	-	2	0	PDE4DIP	143642116	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.883000	0.69721	2.642000	0.89623	0.650000	0.86243	TCC	PDE4DIP	-	NULL	ENSG00000178104		0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0	81	0	G	NM_022359		144930759	-1	tier1	-	no_errors	ENST00000313431	ensembl	human	known	74_37	missense	5.68	83	5	SNP	1.000	T	T	144930759	G	T	144930759	1	4	172	0	1	0	0	0	0	0	0	0	11682	1174	41	3		3	PDE4DIP	1	144930759	Intron	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	31466147	144930759	104319862	9	43153											
TARS2	80222	genome.wustl.edu	37	chr1	150463878	150463878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctttccaggacaatccGgggctcagagctgcctgttt	6	12	10	13	1	2	1	1	0	1	1	5	2	5	2	4	3	2	3	4	3	1	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:150463878G>T	ENST00000369064.3	+	5	555	c.521G>T	c.(520-522)cGg>cTg	p.R174L	TARS2_ENST00000606933.1_Missense_Mutation_p.R174L|TARS2_ENST00000438568.2_Silent_p.P132P|TARS2_ENST00000369054.2_Missense_Mutation_p.R174L	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	174					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	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;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGGACAATCCGGGGCTCAGAG	0.567																																																	0													90	85	86					1																	150463878		2203	4300	6503	SO:0001583	missense	0			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.521G>T	1.37:g.150463878G>T	ENSP00000358060:p.Arg174Leu		Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.R174L	ENST00000369064.3	37	c.521	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268353	0.23136	.	.	ENSG00000143374	ENST00000369054;ENST00000369064	T;T	0.06449	3.3;3.3	5.22	-3.61	0.04556	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	1.265160	0.05236	N	0.511260	T	0.01940	0.0061	L	0.42581	1.335	0.19575	N	0.999965	B;B	0.28055	0.199;0.144	B;B	0.20577	0.03;0.027	T	0.40496	-0.9560	10	0.37606	T	0.19	-8.4758	11.559	0.50766	0.7306:0.0:0.2694:0.0	.	174;174	Q9H9V2;Q9BW92	.;SYTM_HUMAN	L	174	ENSP00000358050:R174L;ENSP00000358060:R174L	ENSP00000358050:R174L	R	+	2	0	TARS2	148730502	0.943000	0.32029	0.229000	0.23960	0.440000	0.31957	-0.071000	0.11505	-0.792000	0.04480	0.563000	0.77884	CGG	TARS2	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa	ENSG00000143374		0.567	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	-	0	43	0	G	NM_025150		150463878	1	tier1	-	no_errors	ENST00000369064	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.070	T	T	150463878	G	T	150463878	3	4	172	1	0	0	0	0	1	0	0	0	15607	1116	39	2	539	2	TARS2	1	150463878	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	5533119	150463878	98786743	10	43154											
BNIPL	149428	genome.wustl.edu	37	chr1	151016187	151016187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggatacgtcagtgttacCgtaccctggatcggcggtga	7	10	14	10	4	1	1	1	1	0	0	2	3	1	3	2	4	3	3	2	4	3	3	rs150118714		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:151016187C>T	ENST00000368931.3	+	7	991	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	BNIPL_ENST00000295294.7_Missense_Mutation_p.R197C	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	279	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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)	p.R279S(1)|p.R197S(1)		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)			TCAGTGTTACCGTACCCTGGA	0.473																																																	2	Substitution - Missense(2)	lung(2)						C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	108	97	101		589,835	4.2	0.9	1	dbSNP_134	101	0,8600		0,0,4300	no	missense,missense	BNIPL	NM_001159642.1,NM_138278.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	197/276,279/358	151016187	1,13005	2203	4300	6503	SO:0001583	missense	0			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.835C>T	1.37:g.151016187C>T	ENSP00000357927:p.Arg279Cys		Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.R279C	ENST00000368931.3	37	c.835	CCDS978.2	1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632956	0.67015	2.27E-4	0.0	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294	T;T;T	0.64438	-0.1;-0.1;-0.1	5.13	4.21	0.49690	Cellular retinaldehyde-binding/triple function, C-terminal (5);	1.063050	0.07163	N	0.851084	T	0.47229	0.1434	M	0.64997	1.995	0.46954	D	0.999266	B	0.14012	0.009	B	0.08055	0.003	T	0.52660	-0.8546	10	0.87932	D	0	.	11.1567	0.48491	0.0:0.911:0.0:0.089	.	279	Q7Z465	BNIPL_HUMAN	C	279;277;197	ENSP00000357927:R279C;ENSP00000355333:R277C;ENSP00000295294:R197C	ENSP00000295294:R197C	R	+	1	0	BNIPL	149282811	0.987000	0.35691	0.864000	0.33941	0.926000	0.56050	2.831000	0.48144	1.378000	0.46305	0.561000	0.74099	CGT	BNIPL	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000163141		0.473	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIPL	HGNC	protein_coding	OTTHUMT00000085092.1	-	0	32	0	C	NM_138279		151016187	1	tier1	rs150118714	no_errors	ENST00000368931	ensembl	human	known	74_37	missense	24.32	28	9	SNP	0.949	T	T	151016187	C	T	151016187	3	4	172	1	0	0	0	0	1	0	0	0	1482	652	23	1	861	1	BNIPL	1	151016187	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	552309	151016187	98234434	11	43155											
SCNM1	79005	genome.wustl.edu	37	chr1	151139677	151139677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcagaatgaattgagaaggGaagaaaccaaagctgaggta	19	6	12	4	0	1	5	1	3	0	3	1	7	1	6	1	2	2	2	1	2	7	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:151139677G>A	ENST00000368905.4	+	4	403	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	SCNM1_ENST00000461862.1_3'UTR|LYSMD1_ENST00000440902.2_5'Flank|LYSMD1_ENST00000368908.5_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	98					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	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)			ATTGAGAAGGGAAGAAACCAA	0.502																																																	0													169	172	171					1																	151139677		2203	4300	6503	SO:0001583	missense	0			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.292G>A	1.37:g.151139677G>A	ENSP00000357901:p.Glu98Lys		B4DWR1|Q5JR74	Missense_Mutation	SNP	NULL	p.E98K	ENST00000368905.4	37	c.292	CCDS987.1	1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666938	0.67814	.	.	ENSG00000163156	ENST00000368905;ENST00000368902	.	.	.	5.45	4.53	0.55603	.	0.264897	0.41938	D	0.000790	T	0.30230	0.0758	L	0.57536	1.79	0.20307	N	0.999913	P;P	0.39282	0.666;0.666	P;B	0.44811	0.461;0.271	T	0.14227	-1.0480	9	0.66056	D	0.02	-5.0763	11.3848	0.49778	0.0:0.0:0.8069:0.1931	.	98;98	B4DWR1;Q9BWG6	.;SCNM1_HUMAN	K	98;63	.	ENSP00000357898:E63K	E	+	1	0	SCNM1	149406301	0.999000	0.42202	0.006000	0.13384	0.516000	0.34256	3.305000	0.51873	1.241000	0.43820	0.448000	0.29417	GAA	SCNM1	-	NULL	ENSG00000163156		0.502	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SCNM1	HGNC	protein_coding	OTTHUMT00000034064.2	-	0	35	0	G	NM_024041		151139677	1	tier1	-	no_errors	ENST00000368905	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.367	A	A	151139677	G	A	151139677	3	1	172	1	0	0	0	0	1	0	0	0	13971	1175	41	3	306	3	SCNM1	1	151139677	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	123490	151139677	98110944	12	43156											
SNAPIN	23557	genome.wustl.edu	37	chr1	153631933	153631933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatccccagaactgtgccGcataaatgaggatcagaagg	13	7	10	11	1	1	3	1	1	0	2	3	4	3	4	4	2	2	1	4	2	4	1	rs567795423	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:153631933G>T	ENST00000368685.5	+	3	290	c.200G>T	c.(199-201)cGc>cTc	p.R67L	ILF2_ENST00000480213.1_5'Flank|SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	67					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)			GAACTGTGCCGCATAAATGAG	0.483																																																	0													136	136	136					1																	153631933		2203	4300	6503	SO:0001583	missense	0			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.200G>T	1.37:g.153631933G>T	ENSP00000357674:p.Arg67Leu		D3DV56|Q5SXU8	Missense_Mutation	SNP	pirsf_Snapin	p.R67L	ENST00000368685.5	37	c.200	CCDS1049.1	1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949638	0.53186	.	.	ENSG00000143553	ENST00000368685	T	0.48836	0.8	5.64	4.73	0.59995	.	0.104240	0.64402	D	0.000013	T	0.27765	0.0683	L	0.59436	1.845	0.42936	D	0.994337	B	0.11235	0.004	B	0.10450	0.005	T	0.31110	-0.9955	10	0.66056	D	0.02	-11.9578	8.6356	0.33945	0.1671:0.0:0.8329:0.0	.	67	O95295	SNAPN_HUMAN	L	67	ENSP00000357674:R67L	ENSP00000357674:R67L	R	+	2	0	SNAPIN	151898557	1.000000	0.71417	0.954000	0.39281	0.839000	0.47603	8.802000	0.91910	1.623000	0.50342	0.650000	0.86243	CGC	SNAPIN	-	pirsf_Snapin	ENSG00000143553		0.483	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPIN	HGNC	protein_coding	OTTHUMT00000090036.1		0	32	0	G	NM_012437		153631933	1			no_errors	ENST00000368685	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.990	T	T	153631933	G	T	153631933	3	4	172	1	0	0	0	0	1	0	0	0	14884	1087	38	2	210	2	SNAPIN	1	153631933	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	2492256	153631933	95618688	13	43157											
NES	10763	genome.wustl.edu	37	chr1	156646866	156646866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgttggtcaacgagggccCgcagggccgccagctcgtcg	6	5	16	14	6	1	0	1	0	0	0	3	1	1	0	3	3	3	3	3	3	1	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:156646866C>T	ENST00000368223.3	-	1	323	c.191G>A	c.(190-192)cGg>cAg	p.R64Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	64	Coil 1B.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACGAGGGCCCGCAGGGCCGC	0.721																																																	0													4	6	5					1																	156646866		1873	3858	5731	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.191G>A	1.37:g.156646866C>T	ENSP00000357206:p.Arg64Gln		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.R64Q	ENST00000368223.3	37	c.191	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497155	0.64186	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.92595	-3.07	4.2	4.2	0.49525	Filament (1);	.	.	.	.	D	0.94932	0.8361	M	0.80982	2.52	0.50813	D	0.999896	D	0.89917	1.0	D	0.66351	0.943	D	0.95508	0.8583	9	0.72032	D	0.01	.	15.2575	0.73596	0.0:1.0:0.0:0.0	.	64	P48681	NEST_HUMAN	Q	64	ENSP00000357206:R64Q	ENSP00000255024:R64Q	R	-	2	0	NES	154913490	1.000000	0.71417	0.246000	0.24233	0.242000	0.25591	2.390000	0.44416	2.129000	0.65627	0.462000	0.41574	CGG	NES	-	pfam_IF	ENSG00000132688		0.721	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0	34	0	C	NM_006617		156646866	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.987	T	T	156646866	C	T	156646866	3	4	172	1	0	0	0	0	1	0	0	0	10376	652	23	1	4690	1	NES	1	156646866	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	3014933	156646866	92603755	14	43158											
OR10K1	391109	genome.wustl.edu	37	chr1	158435970	158435970	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgcttggtgtatttgccTtggtcattcctctgctactt	4	19	8	10	0	3	0	2	0	1	0	4	0	4	0	2	2	4	3	2	2	2	7			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:158435970T>C	ENST00000289451.2	+	1	699	c.619T>C	c.(619-621)Ttg>Ctg	p.L207L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	207						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)					TGTATTTGCCTTGGTCATTCC	0.478																																																	0													156	150	152					1																	158435970		2203	4300	6503	SO:0001819	synonymous_variant	0			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.619T>C	1.37:g.158435970T>C			Q6IFS2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L207	ENST00000289451.2	37	c.619	CCDS30897.1	1																																																																																			OR10K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000173285		0.478	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	HGNC	protein_coding	OTTHUMT00000046367.1	-	0	66	0	T			158435970	1	tier1	-	no_errors	ENST00000289451	ensembl	human	known	74_37	silent	18.46	53	12	SNP	0.211	C	C	158435970	T	C	158435970	2	2	172	1	0	0	0	0	0	0	0	1	10952	1606	56	4		4	OR10K1	1	158435970	Silent	SNP	T	TCGA-VR-AA4D-01A-11D-A37C-09	1789104	158435970	90814651	15	43159											
SPTA1	6708	genome.wustl.edu	37	chr1	158618411	158618411	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgagggcctggcatttcTtctcaatctgctccttcgtg	5	14	9	13	1	3	1	1	1	3	0	6	1	4	1	2	2	1	2	2	2	1	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:158618411T>A	ENST00000368147.4	-	26	3782	c.3602A>T	c.(3601-3603)aAg>aTg	p.K1201M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1201					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)					CTGGCATTTCTTCTCAATCTG	0.522																																																	0													113	110	111					1																	158618411		1962	4165	6127	SO:0001583	missense	0			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.3602A>T	1.37:g.158618411T>A	ENSP00000357129:p.Lys1201Met		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.K1201M	ENST00000368147.4	37	c.3602	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899112	0.91962	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	5.48	5.48	0.80851	.	0.000000	0.33496	U	0.004849	T	0.57519	0.2059	M	0.65975	2.015	0.49051	D	0.999749	P	0.48230	0.907	P	0.62014	0.897	T	0.62412	-0.6860	10	0.87932	D	0	.	14.5554	0.68097	0.0:0.0:0.0:1.0	.	1201	P02549	SPTA1_HUMAN	M	1201	ENSP00000357130:K1201M;ENSP00000357129:K1201M	ENSP00000357129:K1201M	K	-	2	0	SPTA1	156885035	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.512000	0.60469	2.301000	0.77427	0.523000	0.50628	AAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	23	0	T	NM_003126		158618411	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	A	A	158618411	T	A	158618411	3	1	172	1	0	0	0	0	1	0	0	0	15163	1609	56	5	3765	5	SPTA1	1	158618411	Missense_Mutation	SNP	T	TCGA-VR-AA4D-01A-11D-A37C-09	182441	158618411	90632210	16	43160											
OR6K6	128371	genome.wustl.edu	37	chr1	158725236	158725236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatattctgtgatttcacaCctgtgctgagcttggcctgc	7	14	10	10	0	2	3	1	2	1	1	2	3	2	3	2	1	3	2	2	1	1	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:158725236C>T	ENST00000368144.2	+	1	727	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	211			P -> L (in dbSNP:rs16841017).			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)					TGATTTCACACCTGTGCTGAG	0.493																																																	0													123	103	110					1																	158725236		2203	4300	6503	SO:0001583	missense	0			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.631C>T	1.37:g.158725236C>T	ENSP00000357126:p.Pro211Ser		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P211S	ENST00000368144.2	37	c.631	CCDS30904.1	1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320140	0.60634	.	.	ENSG00000180433	ENST00000368144	T	0.00202	8.56	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000536	T	0.00356	0.0011	M	0.70275	2.135	0.34839	D	0.740489	D	0.89917	1.0	D	0.97110	1.0	T	0.78244	-0.2279	10	0.87932	D	0	-12.6988	18.27	0.90065	0.0:1.0:0.0:0.0	.	211	Q8NGW6	OR6K6_HUMAN	S	211	ENSP00000357126:P211S	ENSP00000357126:P211S	P	+	1	0	OR6K6	156991860	0.078000	0.21339	0.990000	0.47175	0.979000	0.70002	1.018000	0.30002	2.848000	0.98002	0.655000	0.94253	CCT	OR6K6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000180433		0.493	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	-	0	36	0	C	NM_001005184		158725236	1	tier1	-	no_errors	ENST00000368144	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.915	T	T	158725236	C	T	158725236	3	4	172	1	0	0	0	0	1	0	0	0	11243	507	18	3	633	3	OR6K6	1	158725236	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	106825	158725236	90525385	17	43161											
DUSP12	11266	genome.wustl.edu	37	chr1	161719712	161719712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtatttcggtggggccgcgGccgtcgcggagccagatcac	5	8	16	12	6	1	1	1	0	0	1	3	2	1	2	3	5	1	1	3	5	1	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:161719712G>A	ENST00000367943.4	+	1	153	c.121G>A	c.(121-123)Gcc>Acc	p.A41T		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	41					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGGGGCCGCGGCCGTCGCGGA	0.662																																																	0													25	28	27					1																	161719712		2203	4300	6503	SO:0001583	missense	0			AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3067	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.121G>A	1.37:g.161719712G>A	ENSP00000356920:p.Ala41Thr		Q5VXA8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.A41T	ENST00000367943.4	37	c.121	CCDS1234.1	1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594010	0.46214	.	.	ENSG00000081721	ENST00000367943	D	0.85258	-1.96	4.72	3.79	0.43588	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.176849	0.47093	D	0.000250	T	0.70657	0.3249	L	0.58810	1.83	0.34565	D	0.712853	B	0.29212	0.237	B	0.34590	0.186	T	0.63642	-0.6591	10	0.13853	T	0.58	.	10.6266	0.45510	0.0:0.1941:0.8059:0.0	.	41	Q9UNI6	DUS12_HUMAN	T	41	ENSP00000356920:A41T	ENSP00000356920:A41T	A	+	1	0	DUSP12	159986336	0.914000	0.31030	0.995000	0.50966	0.691000	0.40173	0.948000	0.29096	1.167000	0.42706	0.563000	0.77884	GCC	DUSP12	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000081721		0.662	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP12	HGNC	protein_coding	OTTHUMT00000083588.1	-	0	61	0	G	NM_007240		161719712	1	tier1	-	no_errors	ENST00000367943	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.988	A	A	161719712	G	A	161719712	3	1	172	1	0	0	0	0	1	0	0	0	4826	1203	42	3	123	3	DUSP12	1	161719712	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	2994476	161719712	87530909	18	43162											
TBX19	9095	genome.wustl.edu	37	chr1	168269680	168269680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcacctaagagacgtacCggaggctatctctgagagcc	13	7	10	11	2	2	2	1	1	1	2	3	5	2	3	3	2	2	2	3	2	4	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:168269680C>T	ENST00000367821.3	+	5	737	c.686C>T	c.(685-687)cCg>cTg	p.P229L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	229					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)					AGAGACGTACCGGAGGCTATC	0.478																																																	0													113	100	104					1																	168269680		2203	4300	6503	SO:0001583	missense	0			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.686C>T	1.37:g.168269680C>T	ENSP00000356795:p.Pro229Leu		Q52M53	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.P229L	ENST00000367821.3	37	c.686	CCDS1272.1	1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.678965	0.00751	.	.	ENSG00000143178	ENST00000367821;ENST00000367828	D	0.83837	-1.77	5.13	4.21	0.49690	.	.	.	.	.	T	0.35508	0.0934	N	0.04959	-0.14	0.45791	D	0.998670	B;B	0.34329	0.086;0.449	B;B	0.19148	0.003;0.024	T	0.19943	-1.0290	8	0.06891	T	0.86	.	8.9804	0.35961	0.0:0.7709:0.1501:0.0789	.	229;160	O60806;B3KRD9	TBX19_HUMAN;.	L	229;169	ENSP00000356795:P229L	ENSP00000356795:P229L	P	+	2	0	TBX19	166536304	0.000000	0.05858	0.037000	0.18230	0.019000	0.09904	1.178000	0.31981	1.112000	0.41740	0.650000	0.86243	CCG	TBX19	-	NULL	ENSG00000143178		0.478	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX19	HGNC	protein_coding	OTTHUMT00000083825.1	-	0	35	0	C	NM_005149		168269680	1	tier1	-	no_errors	ENST00000367821	ensembl	human	known	74_37	missense	22.22	35	10	SNP	0.001	T	T	168269680	C	T	168269680	3	4	172	1	0	0	0	0	1	0	0	0	15701	652	23	1	704	1	TBX19	1	168269680	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	6549968	168269680	80980941	19	43163											
TNR	7143	genome.wustl.edu	37	chr1	175372433	175372433	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgttggcacatctcccCttccccgaacagtccccagg	7	8	8	18	2	1	0	0	0	1	0	4	1	3	0	7	2	2	3	7	2	2	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:175372433C>T	ENST00000367674.2	-	4	1527	c.819G>A	c.(817-819)aaG>aaA	p.K273K	TNR_ENST00000263525.2_Silent_p.K273K			Q92752	TENR_HUMAN	tenascin R	273	Cys-rich.				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)		p.K273N(1)		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)					CACATCTCCCCTTCCCCGAAC	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)											134	87	103					1																	175372433		2203	4300	6503	SO:0001819	synonymous_variant	0			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.819G>A	1.37:g.175372433C>T			C9J563|Q15568|Q5R3G0	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.K273	ENST00000367674.2	37	c.819	CCDS1318.1	1																																																																																			TNR	-	pfam_EGF_extracell,smart_EG-like_dom	ENSG00000116147		0.632	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0	34	0	C	NM_003285		175372433	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	silent	31.58	26	12	SNP	1.000	T	T	175372433	C	T	175372433	2	4	172	1	0	0	0	0	0	0	0	1	16385	680	24	3		3	TNR	1	175372433	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	7102753	175372433	73878188	20	43164											
ASTN1	460	genome.wustl.edu	37	chr1	176852059	176852059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggtgagctgcttgtccgGcacctgagatggcattgcac	6	10	15	10	1	0	2	0	2	0	1	1	3	1	2	2	4	3	5	2	4	0	2	rs572123720	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:176852059G>A	ENST00000367654.3	-	20	3533	c.3322C>T	c.(3322-3324)Ccg>Tcg	p.P1108S	ASTN1_ENST00000367657.3_Missense_Mutation_p.P1100S|ASTN1_ENST00000424564.2_Missense_Mutation_p.P1100S|ASTN1_ENST00000361833.2_Missense_Mutation_p.P1100S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1108	Fibronectin type-III 1.				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						TGCTTGTCCGGCACCTGAGAT	0.498													G|||	7	0.00139776	0	0	5008	,	,		19824	0		0	False		,,,				2504	0.0072																0													166	142	150					1																	176852059		2203	4300	6503	SO:0001583	missense	0			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.3322C>T	1.37:g.176852059G>A	ENSP00000356626:p.Pro1108Ser		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.P1108S	ENST00000367654.3	37	c.3322		1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573865	0.86542	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.13657	2.57;2.99;2.99;2.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	L	0.44542	1.39	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.78314	0.991;0.991	T	0.01904	-1.1250	10	0.11794	T	0.64	-13.7427	19.3522	0.94393	0.0:0.0:1.0:0.0	.	1100;1100	O14525-2;B1AJS1	.;.	S	1100;1100;1108;1100;1100	ENSP00000356629:P1100S;ENSP00000354536:P1100S;ENSP00000356626:P1108S;ENSP00000395041:P1100S	ENSP00000354536:P1100S	P	-	1	0	ASTN1	175118682	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	9.246000	0.95438	2.672000	0.90937	0.467000	0.42956	CCG	ASTN1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000152092		0.498	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0	56	0	G	NM_004319		176852059	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	176852059	G	A	176852059	3	1	172	1	0	0	0	0	1	0	0	0	1065	1203	42	3	606	3	ASTN1	1	176852059	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	1479626	176852059	72398562	21	43165											
LAMC1	3915	genome.wustl.edu	37	chr1	183077522	183077522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctattattatgccatctctGattttgctgtaggtggcagg	7	16	10	8	0	1	1	0	1	1	0	2	1	1	1	2	3	2	3	2	3	4	6			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:183077522G>T	ENST00000258341.4	+	3	1092	c.835G>T	c.(835-837)Gat>Tat	p.D279Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	279	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						TGCCATCTCTGATTTTGCTGT	0.378																																																	0													109	103	105					1																	183077522		2203	4300	6503	SO:0001583	missense	0			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.835G>T	1.37:g.183077522G>T	ENSP00000258341:p.Asp279Tyr		Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.D279Y	ENST00000258341.4	37	c.835	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347496	0.82022	.	.	ENSG00000135862	ENST00000258341	T	0.80909	-1.43	4.59	4.59	0.56863	Laminin, N-terminal (3);	0.105878	0.64402	D	0.000012	D	0.92535	0.7629	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94836	0.8000	10	0.87932	D	0	.	17.7597	0.88461	0.0:0.0:1.0:0.0	.	279	P11047	LAMC1_HUMAN	Y	279	ENSP00000258341:D279Y	ENSP00000258341:D279Y	D	+	1	0	LAMC1	181344145	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	9.473000	0.97714	2.257000	0.74773	0.467000	0.42956	GAT	LAMC1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000135862		0.378	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	-	0	91	0	G	NM_002293		183077522	1	tier1	-	no_errors	ENST00000258341	ensembl	human	known	74_37	missense	14.81	92	16	SNP	1.000	T	T	183077522	G	T	183077522	3	4	172	1	0	0	0	0	1	0	0	0	8642	1290	45	3	845	3	LAMC1	1	183077522	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	6225463	183077522	66173099	22	43166											
FAM5C	339479	genome.wustl.edu	37	chr1	190067356	190067356	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtagttgcaaaagtgctGaatcctgggatccctgagta	11	11	11	8	0	0	2	0	2	0	0	2	3	2	3	2	1	2	5	2	1	6	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:190067356G>T	ENST00000367462.3	-	8	2324	c.2093C>A	c.(2092-2094)tCa>tAa	p.S698*	BRINP3_ENST00000534846.1_Nonsense_Mutation_p.S596*	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	698					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)											CAAAAGTGCTGAATCCTGGGA	0.468																																																	0													103	102	102					1																	190067356		2203	4300	6503	SO:0001587	stop_gained	0			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.2093C>A	1.37:g.190067356G>T	ENSP00000356432:p.Ser698*		B3KVP1|B7Z260|O95726|Q2M330	Nonsense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S698*	ENST00000367462.3	37	c.2093	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.972048	0.97162	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	.	.	.	5.72	4.79	0.61399	.	0.210834	0.42420	D	0.000703	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3961	0.67013	0.0:0.149:0.851:0.0	.	.	.	.	X	698;596	.	ENSP00000356432:S698X	S	-	2	0	FAM5C	188333979	1.000000	0.71417	0.889000	0.34880	0.912000	0.54170	9.760000	0.98935	1.382000	0.46385	0.650000	0.86243	TCA	BRINP3	-	NULL	ENSG00000162670		0.468	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1	-	0	38	0	G	NM_199051		190067356	-1	tier1	-	no_errors	ENST00000367462	ensembl	human	known	74_37	nonsense	18.92	30	7	SNP	1.000	T	T	190067356	G	T	190067356	4	4	172	1	0	0	0	0	0	1	0	0	5616	1294	45	3	211	3	FAM5C	1	190067356	Nonsense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	6989834	190067356	59183265	23	43167											
RGS21	431704	genome.wustl.edu	37	chr1	192321288	192321288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaatgcagacaaaattgCttccaaagccaagatgattt	18	9	7	7	0	0	3	0	1	0	2	1	4	1	3	2	0	3	2	2	0	6	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:192321288C>T	ENST00000417209.2	+	4	374	c.200C>T	c.(199-201)gCt>gTt	p.A67V		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	67	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GACAAAATTGCTTCCAAAGCC	0.368																																																	0													65	62	63					1																	192321288		1856	4113	5969	SO:0001583	missense	0			AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"Regulators of G-protein signaling"	26839	protein-coding gene	gene with protein product		612407	"regulator of G-protein signalling 21"			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.200C>T	1.37:g.192321288C>T	ENSP00000428343:p.Ala67Val			Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.A67V	ENST00000417209.2	37	c.200	CCDS41448.1	1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108275	0.37242	.	.	ENSG00000253148	ENST00000417209	T	0.01918	4.56	5.77	3.9	0.45041	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.611043	0.12157	U	0.494325	T	0.01695	0.0054	N	0.11131	0.1	0.24499	N	0.994264	B	0.06786	0.001	B	0.06405	0.002	T	0.47045	-0.9147	10	0.25106	T	0.35	.	10.6919	0.45875	0.0:0.8451:0.0:0.1549	.	67	Q2M5E4	RGS21_HUMAN	V	67	ENSP00000428343:A67V	ENSP00000428343:A67V	A	+	2	0	RGS21	190587911	0.089000	0.21612	1.000000	0.80357	0.987000	0.75469	0.862000	0.27899	1.448000	0.47680	0.557000	0.71058	GCT	RGS21	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000253148		0.368	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS21	HGNC	protein_coding	OTTHUMT00000086387.2		0	41	0	C			192321288	1			no_errors	ENST00000417209	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.995	T	T	192321288	C	T	192321288	3	4	172	1	0	0	0	0	1	0	0	0	13349	797	28	3	210	3	RGS21	1	192321288	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	2253932	192321288	56929333	24	43168											
ADORA1	134	genome.wustl.edu	37	chr1	203134554	203134554	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcccgtgatcaagtgCgagttcgagaaggtcatcag	10	7	16	8	3	3	2	3	1	0	1	4	5	3	3	1	3	2	1	1	3	2	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:203134554C>T	ENST00000367236.4	+	3	1428	c.507C>T	c.(505-507)tgC>tgT	p.C169C	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.C169C|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Silent_p.C169C	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	169					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TGATCAAGTGCGAGTTCGAGA	0.582																																																	0													163	162	163					1																	203134554		2203	4300	6503	SO:0001819	synonymous_variant	0			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"GPCR / Class A : Adenosine receptors"	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.507C>T	1.37:g.203134554C>T			A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt	p.C169	ENST00000367236.4	37	c.507	CCDS1434.1	1																																																																																			ADORA1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt	ENSG00000163485		0.582	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	HGNC	protein_coding	OTTHUMT00000100273.1	-	0	55	0	C	NM_000674		203134554	1	tier1	-	no_errors	ENST00000309502	ensembl	human	known	74_37	silent	43.94	37	29	SNP	0.946	T	T	203134554	C	T	203134554	2	4	172	1	0	0	0	0	0	0	0	1	326	776	27	1		1	ADORA1	1	203134554	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	10813266	203134554	46116067	25	43169											
IRF2BP2	359948	genome.wustl.edu	37	chr1	234744487	234744487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttggctgccgcctcacGctgctcgtgctccacggcag	3	9	11	18	4	1	0	1	0	0	0	4	0	3	0	4	2	3	5	4	2	0	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:234744487G>A	ENST00000366609.3	-	1	784	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R252C	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	252					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)			GCCGCCTCACGCTGCTCGTGC	0.766																																																	0													2	2	2					1																	234744487		1515	3343	4858	SO:0001583	missense	0			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.754C>T	1.37:g.234744487G>A	ENSP00000355568:p.Arg252Cys		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.R252C	ENST00000366609.3	37	c.754	CCDS1602.1	1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462001	0.26248	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.34859	1.38;1.34	3.8	2.88	0.33553	.	0.442914	0.22990	N	0.053217	T	0.29355	0.0731	N	0.08118	0	0.27480	N	0.952607	D;D	0.89917	0.999;1.0	P;D	0.65233	0.764;0.933	T	0.04825	-1.0924	10	0.38643	T	0.18	-8.0449	3.6754	0.08290	0.2121:0.0:0.5932:0.1947	.	252;252	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	C	252	ENSP00000355569:R252C;ENSP00000355568:R252C	ENSP00000355568:R252C	R	-	1	0	IRF2BP2	232811110	0.988000	0.35896	0.813000	0.32504	0.041000	0.13682	3.748000	0.55142	0.918000	0.36919	-0.224000	0.12420	CGT	IRF2BP2	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000168264		0.766	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	IRF2BP2	HGNC	protein_coding	OTTHUMT00000092705.1	-	0	9	0	G	NM_182972		234744487	-1	tier1	-	no_errors	ENST00000366609	ensembl	human	novel	74_37	missense	70.00	3	7	SNP	0.052	A	A	234744487	G	A	234744487	3	1	172	1	0	0	0	0	1	0	0	0	7857	1087	38	1	1017	1	IRF2BP2	1	234744487	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	31609933	234744487	14506134	26	43170											
ARID4B	51742	genome.wustl.edu	37	chr1	235335957	235335957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctctttcttctttaaacGctttctcctccgatcaatgg	6	18	4	13	2	6	0	1	0	5	0	9	1	7	0	2	1	1	1	2	1	3	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr1:235335957G>A	ENST00000264183.3	-	23	4284	c.3787C>T	c.(3787-3789)Cgt>Tgt	p.R1263C	ARID4B_ENST00000366603.2_Missense_Mutation_p.R1263C|ARID4B-IT1_ENST00000357671.6_RNA|ARID4B_ENST00000349213.3_Missense_Mutation_p.R1177C	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1263					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTCTTTAAACGCTTTCTCCTC	0.333																																																	0													57	54	55					1																	235335957		2202	4300	6502	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3787C>T	1.37:g.235335957G>A	ENSP00000264183:p.Arg1263Cys		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R1263C	ENST00000264183.3	37	c.3787	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516941	0.85495	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.40476	1.03;1.11;1.11	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.61322	-0.7086	10	0.87932	D	0	-11.492	20.047	0.97613	0.0:0.0:1.0:0.0	.	1177;1263	Q4LE39-2;Q4LE39	.;ARI4B_HUMAN	C	1177;1263;1263	ENSP00000264184:R1177C;ENSP00000355562:R1263C;ENSP00000264183:R1263C	ENSP00000264183:R1263C	R	-	1	0	ARID4B	233402580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.297000	0.78799	2.821000	0.97095	0.555000	0.69702	CGT	ARID4B	-	NULL	ENSG00000054267		0.333	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3		0	41	0	G	NM_016374		235335957	-1			no_errors	ENST00000264183	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	A	A	235335957	G	A	235335957	3	1	172	1	0	0	0	0	1	0	0	0	920	1087	38	1	159	1	ARID4B	1	235335957	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	591470	235335957	13914664	27	43171											
MSH6	2956	genome.wustl.edu	37	chr2	48026147	48026147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactttgagagctttctctgCccctcaaaattctgaatccc	9	14	5	13	0	3	2	1	2	2	1	5	3	4	2	3	0	3	1	3	0	4	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:48026147C>T	ENST00000234420.5	+	4	1177	c.1025C>T	c.(1024-1026)gCc>gTc	p.A342V	MSH6_ENST00000540021.1_Missense_Mutation_p.A212V|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.A40V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	342					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)			GCTTTCTCTGCCCCTCAAAAT	0.443			"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)											111	117	115					2																	48026147		2203	4300	6503	SO:0001583	missense	0	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.1025C>T	2.37:g.48026147C>T	ENSP00000234420:p.Ala342Val		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.A342V	ENST00000234420.5	37	c.1025	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322755	0.41096	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.87966	-1.97;-2.07;-2.32	4.41	1.54	0.23209	.	0.179686	0.48286	N	0.000183	D	0.83514	0.5271	M	0.70275	2.135	0.80722	D	1	B;B;B	0.12630	0.006;0.001;0.0	B;B;B	0.15052	0.006;0.004;0.012	T	0.76383	-0.2979	10	0.32370	T	0.25	-1.2921	9.6738	0.40028	0.0:0.7647:0.0:0.2353	.	212;342;342	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	V	342;340;212;40	ENSP00000234420:A342V;ENSP00000446475:A212V;ENSP00000438580:A40V	ENSP00000234420:A342V	A	+	2	0	MSH6	47879651	0.997000	0.39634	0.998000	0.56505	0.488000	0.33401	3.590000	0.53979	0.500000	0.27991	0.655000	0.94253	GCC	MSH6	-	pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.443	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	-	0	37	0	C	NM_000179		48026147	1	tier1	-	no_errors	ENST00000234420	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.996	T	T	48026147	C	T	48026147	3	4	172	1	0	0	0	0	1	0	0	0	9912	739	26	3	1039	3	MSH6	2	48026147	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09		48026147	195173226	28	43172											
CD207	50489	genome.wustl.edu	37	chr2	71058196	71058196	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgtcacggttctgatggGacatagggtcgcttacaaat	9	12	11	9	2	2	1	1	1	1	0	4	2	3	2	1	3	1	2	1	3	3	3	rs376932379		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:71058196G>T	ENST00000410009.3	-	6	1017	c.972C>A	c.(970-972)gtC>gtA	p.V324V		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	324					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GTTCTGATGGGACATAGGGTC	0.478																																																	0													83	79	80					2																	71058196		1936	4136	6072	SO:0001819	synonymous_variant	0			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.972C>A	2.37:g.71058196G>T				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.V324	ENST00000410009.3	37	c.972		2																																																																																			CD207	-	NULL	ENSG00000116031		0.478	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	HGNC	protein_coding	OTTHUMT00000329959.4	-	0	71	0	G	NM_015717		71058196	-1	tier1	-	no_errors	ENST00000410009	ensembl	human	known	74_37	silent	6.76	69	5	SNP	0.000	T	T	71058196	G	T	71058196	2	4	172	1	0	0	0	0	0	0	0	1	2990	1161	41	3		3	CD207	2	71058196	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	23032049	71058196	172141177	29	43173											
ZNF638	27332	genome.wustl.edu	37	chr2	71650383	71650383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaagaatctccatctgaaGcagaagatttcatttctgga	14	12	8	7	0	4	5	1	1	3	4	5	6	4	6	1	1	1	1	1	1	5	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:71650383G>T	ENST00000409544.1	+	22	4369	c.3739G>T	c.(3739-3741)Gca>Tca	p.A1247S	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1247S|ZNF638_ENST00000409407.1_Missense_Mutation_p.A187S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1247	Glu-rich.				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						TCCATCTGAAGCAGAAGATTT	0.363																																																	0													59	62	61					2																	71650383		2203	4300	6503	SO:0001583	missense	0			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.3739G>T	2.37:g.71650383G>T	ENSP00000386433:p.Ala1247Ser		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.A1247S	ENST00000409544.1	37	c.3739	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869281	0.32977	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.32753	1.44;1.44;1.82	5.43	1.02	0.19986	.	0.538297	0.17009	N	0.190590	T	0.15046	0.0363	N	0.19112	0.55	0.80722	D	1	B;B;B	0.31077	0.147;0.229;0.307	B;B;B	0.31495	0.062;0.131;0.089	T	0.09207	-1.0685	10	0.11485	T	0.65	-1.9276	6.3178	0.21200	0.4797:0.0:0.5203:0.0	.	1247;1247;1247	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	S	826;1247;1247;187;187	ENSP00000264447:A1247S;ENSP00000386433:A1247S;ENSP00000386813:A187S	ENSP00000264447:A1247S	A	+	1	0	ZNF638	71503891	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	0.527000	0.22987	0.347000	0.23924	0.655000	0.94253	GCA	ZNF638	-	NULL	ENSG00000075292		0.363	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	-	0	41	0	G	NM_014497		71650383	1	tier1	-	no_errors	ENST00000264447	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.998	T	T	71650383	G	T	71650383	3	4	172	1	0	0	0	0	1	0	0	0	18103	971	34	3	3821	3	ZNF638	2	71650383	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	592187	71650383	171548990	30	43174											
PSD4	23550	genome.wustl.edu	37	chr2	113940951	113940951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaagtgagccagatttGggggacggcgctgctatcag	9	8	16	8	2	1	2	1	1	0	1	1	4	1	4	1	4	2	2	1	4	2	2	rs267598841		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:113940951G>T	ENST00000245796.6	+	2	1113	c.918G>T	c.(916-918)ttG>ttT	p.L306F	PSD4_ENST00000441564.3_Missense_Mutation_p.L306F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	306					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						AGCCAGATTTGGGGGACGGCG	0.607																																																	0													58	50	52					2																	113940951		2203	4300	6503	SO:0001583	missense	0			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.918G>T	2.37:g.113940951G>T	ENSP00000245796:p.Leu306Phe		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.L306F	ENST00000245796.6	37	c.918	CCDS33276.1	2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009576	0.35415	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.11712	2.81;2.75	5.83	2.98	0.34508	.	2.082930	0.02042	N	0.049399	T	0.10165	0.0249	L	0.27053	0.805	0.26930	N	0.966493	B;B	0.26672	0.156;0.097	B;B	0.29716	0.106;0.049	T	0.32025	-0.9922	9	.	.	.	.	6.3936	0.21601	0.1657:0.1495:0.6848:0.0	.	306;306	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	F	306	ENSP00000245796:L306F;ENSP00000413997:L306F	.	L	+	3	2	PSD4	113657422	0.005000	0.15991	0.021000	0.16686	0.014000	0.08584	0.220000	0.17660	0.770000	0.33336	0.655000	0.94253	TTG	PSD4	-	NULL	ENSG00000125637		0.607	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	-	0	36	0	G	NM_012455		113940951	1	tier1	-	no_errors	ENST00000245796	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.028	T	T	113940951	G	T	113940951	3	4	172	1	0	0	0	0	1	0	0	0	12691	1339	47	3	920	3	PSD4	2	113940951	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	42290568	113940951	129258422	31	43175											
GTDC1	79712	genome.wustl.edu	37	chr2	144764923	144764923	+	Missense_Mutation	SNP	T	T	C	0	1	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	ttaatgagttacccaaatatTcttgtcgtgcagtatcaagg	12	14	8	7	1	2	1	1	1	1	0	3	1	2	1	1	1	2	3	1	1	6	6			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:144764923T>C	ENST00000392869.2	-	6	853	c.701A>G	c.(700-702)gAa>gGa	p.E234G	GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000542155.1_Missense_Mutation_p.E234G|GTDC1_ENST00000409214.1_Missense_Mutation_p.E234G|GTDC1_ENST00000344850.4_Missense_Mutation_p.E234G|GTDC1_ENST00000463875.2_Missense_Mutation_p.E105G|GTDC1_ENST00000241391.5_Missense_Mutation_p.E234G|GTDC1_ENST00000392867.3_Missense_Mutation_p.E234G	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	234					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)		ACCCAAATATTCTTGTCGTGC	0.383																																																	0													114	111	112					2																	144764923		2203	4300	6503	SO:0001583	missense	0			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.701A>G	2.37:g.144764923T>C	ENSP00000376608:p.Glu234Gly		A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1	p.E234G	ENST00000392869.2	37	c.701	CCDS33300.1	2	.	.	.	.	.	.	.	.	.	.	T	12.44	1.938628	0.34189	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T	0.50001	0.79;0.79;0.76;0.79;0.76;0.79;0.77	4.77	-4.56	0.03431	.	0.871755	0.10192	N	0.704502	T	0.40862	0.1134	M	0.62723	1.935	0.09310	N	1	B;B;B;B	0.12013	0.0;0.001;0.0;0.005	B;B;B;B	0.09377	0.001;0.004;0.0;0.004	T	0.33650	-0.9860	10	0.44086	T	0.13	-0.4239	11.0116	0.47665	0.0:0.455:0.0:0.545	.	234;234;234;234	G1UFN1;Q4AE62-2;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	G	234;234;234;234;234;234;105	ENSP00000376608:E234G;ENSP00000386581:E234G;ENSP00000376606:E234G;ENSP00000438323:E234G;ENSP00000241391:E234G;ENSP00000339750:E234G;ENSP00000437964:E105G	ENSP00000241391:E234G	E	-	2	0	GTDC1	144481393	0.987000	0.35691	0.000000	0.03702	0.001000	0.01503	1.450000	0.35134	-1.089000	0.03073	-0.408000	0.06270	GAA	GTDC1	-	NULL	ENSG00000121964		0.383	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC1	HGNC	protein_coding	OTTHUMT00000254779.2	-	0	58	0	T	NM_024659		144764923	-1	tier1	-	no_errors	ENST00000344850	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.000	C	C	144764923	T	C	144764923	3	2	172	1	0	0	0	0	1	0	0	0	6878	1783	62	4	699	4	GTDC1	2	144764923	Missense_Mutation	SNP	T	TCGA-VR-AA4D-01A-11D-A37C-09	30823972	144764923	98434450	32	43176											
ACVR1	90	genome.wustl.edu	37	chr2	158617468	158617468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgacccttttataagaatcGaaacaatccacctggatggt	13	11	7	10	2	0	1	0	0	0	1	3	4	1	2	3	2	1	0	3	2	5	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:158617468G>A	ENST00000263640.3	-	9	1617	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	ACVR1_ENST00000410057.2_Silent_p.F396F|ACVR1_ENST00000409283.2_Silent_p.F396F|ACVR1_ENST00000434821.1_Silent_p.F396F	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	396	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|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 phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|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)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TATAAGAATCGAAACAATCCA	0.473																																																	0													65	62	63					2																	158617468		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.1188C>T	2.37:g.158617468G>A				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.F396	ENST00000263640.3	37	c.1188	CCDS2206.1	2																																																																																			ACVR1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000115170		0.473	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1	HGNC	protein_coding	OTTHUMT00000254927.1	-	0	47	0	G	NM_001105		158617468	-1	tier1	-	no_errors	ENST00000263640	ensembl	human	known	74_37	silent	18.37	40	9	SNP	0.920	A	A	158617468	G	A	158617468	2	1	172	1	0	0	0	0	0	0	0	1	220	1049	37	1		1	ACVR1	2	158617468	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	13852545	158617468	84581905	33	43177											
LY75	4065	genome.wustl.edu	37	chr2	160711447	160711447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtctggtgtttttggagtaCggcctgtatgaggaagaaag	10	12	15	4	1	1	2	0	1	1	1	1	4	1	4	1	4	1	3	1	4	4	4	rs115323272	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:160711447C>T	ENST00000263636.4	-	17	2414	c.2387G>A	c.(2386-2388)cGt>cAt	p.R796H	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R796H|LY75_ENST00000553424.1_Missense_Mutation_p.R796H|LY75_ENST00000554112.1_Missense_Mutation_p.R796H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R796H	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	796					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)		TTTTGGAGTACGGCCTGTATG	0.388													C|||	3	0.000599042	0.0023	0	5008	,	,		21086	0		0	False		,,,				2504	0																0													162	153	156					2																	160711447		2203	4300	6503	SO:0001583	missense	0			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.2387G>A	2.37:g.160711447C>T	ENSP00000263636:p.Arg796His		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.R796H	ENST00000263636.4	37	c.2387	CCDS2211.1	2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	12.80	2.046453	0.36085	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.09538	3.0;3.0;2.97;3.0;3.0	6.17	-7.45	0.01374	C-type lectin-like (1);	1.346020	0.05647	N	0.584414	T	0.04318	0.0119	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43686	-0.9376	10	0.36615	T	0.2	-0.0083	6.7395	0.23428	0.3015:0.1489:0.0:0.5496	.	796;796;796	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	H	796	ENSP00000451511:R796H;ENSP00000451446:R796H;ENSP00000263636:R796H;ENSP00000423463:R796H;ENSP00000421035:R796H	ENSP00000423463:R796H	R	-	2	0	LY75;LY75-CD302	160419693	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	-2.078000	0.01370	-1.060000	0.03189	-0.812000	0.03155	CGT	LY75	-	NULL	ENSG00000054219		0.388	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1		0	31	0	C			160711447	-1			no_errors	ENST00000554112	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.000	T	T	160711447	C	T	160711447	3	4	172	1	0	0	0	0	1	0	0	0	9135	536	19	1	2857	1	LY75	2	160711447	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	2093979	160711447	82487926	34	43178											
SCN9A	6335	genome.wustl.edu	37	chr2	167084183	167084183	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agataatcaatacttacattAacagaatccactgctgcata	17	11	4	9	0	1	2	1	0	0	2	2	2	2	2	1	0	5	2	1	0	7	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:167084183A>G	ENST00000409435.1	-	22	4256	c.4257T>C	c.(4255-4257)gtT>gtC	p.V1419V	SCN9A_ENST00000303354.6_Silent_p.V1420V|SCN9A_ENST00000409672.1_Silent_p.V1408V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.V1420V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1419					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)	TACTTACATTAACAGAATCCA	0.294																																																	0													56	51	53					2																	167084183		1794	4051	5845	SO:0001819	synonymous_variant	0			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.4257T>C	2.37:g.167084183A>G			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.V1420	ENST00000409435.1	37	c.4260	CCDS46441.1	2																																																																																			SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.294	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0	47	0	A	NM_002977		167084183	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	silent	50.00	28	28	SNP	0.769	G	G	167084183	A	G	167084183	2	3	172	1	0	0	0	0	0	0	0	1	13970	349	13	4		4	SCN9A	2	167084183	Silent	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	6372736	167084183	76115190	35	43179											
KLHL23	151230	genome.wustl.edu	37	chr2	170592353	170592353	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtccacagccacaatgtatAtaattggaggctattactgg	12	11	10	8	0	0	0	0	0	0	0	1	1	1	1	2	4	2	2	2	4	6	6			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:170592353A>T	ENST00000392647.2	+	2	1073	c.829A>T	c.(829-831)Ata>Tta	p.I277L	KLHL23_ENST00000272797.4_Missense_Mutation_p.I277L|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	277										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CACAATGTATATAATTGGAGG	0.423																																																	0													91	94	93					2																	170592353		2203	4300	6503	SO:0001583	missense	0			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.829A>T	2.37:g.170592353A>T	ENSP00000376419:p.Ile277Leu		Q8N9B9|Q96FT8	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I277L	ENST00000392647.2	37	c.829	CCDS2236.1	2	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402784	0.42613	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.80566	-1.39;-1.39;-1.39	5.81	3.5	0.40072	Kelch-type beta propeller (1);	0.135914	0.53938	D	0.000057	T	0.63546	0.2520	N	0.16833	0.445	0.29580	N	0.849233	B	0.10296	0.003	B	0.19666	0.026	T	0.64909	-0.6296	9	0.62326	D	0.03	.	5.1022	0.14766	0.6958:0.0:0.3042:0.0	.	277	Q8NBE8	KLH23_HUMAN	L	277;277;98	ENSP00000272797:I277L;ENSP00000376419:I277L;ENSP00000394732:I98L	ENSP00000272797:I277L	I	+	1	0	KLHL23	170300599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.542000	0.45744	2.210000	0.71456	0.533000	0.62120	ATA	KLHL23	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000213160		0.423	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2	-	0	42	0	A	NM_144711		170592353	1	tier1	-	no_errors	ENST00000272797	ensembl	human	known	74_37	missense	34.48	38	20	SNP	1.000	T	T	170592353	A	T	170592353	3	4	172	1	0	0	0	0	1	0	0	0	8405	449	16	5	831	5	KLHL23	2	170592353	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	3508170	170592353	72607020	36	43180											
TTN	7273	genome.wustl.edu	37	chr2	179428956	179428956	+	Silent	SNP	G	G	A	0	0	1	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	acaacatcaggtataggtttGccacggatgtcggcttcaag	11	10	11	9	2	2	0	2	0	0	0	3	1	2	1	1	4	2	3	1	4	4	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:179428956G>A	ENST00000591111.1	-	276	77204	c.76980C>T	c.(76978-76980)ggC>ggT	p.G25660G	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G24733G|TTN_ENST00000589042.1_Silent_p.G27301G|TTN_ENST00000359218.5_Silent_p.G18361G|TTN_ENST00000342175.6_Silent_p.G18428G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.G18236G|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25660	Ig-like 125.				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)			GTATAGGTTTGCCACGGATGT	0.378																																																	0													152	153	153					2																	179428956		1889	4112	6001	SO:0001819	synonymous_variant	0			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.76980C>T	2.37:g.179428956G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G24733	ENST00000591111.1	37	c.74199		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	40	0	G	NM_133378		179428956	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	10.81	33	4	SNP	1.000	A	A	179428956	G	A	179428956	2	1	172	1	0	0	0	0	0	0	0	1	16784	1306	46	3		3	TTN	2	179428956	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	8836603	179428956	63770417	37	43181											
CWC22	57703	genome.wustl.edu	37	chr2	180851528	180851528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggatcgttcttgttcttCatatctaacataaaataaga	13	14	8	6	1	4	1	1	0	3	1	5	2	4	2	0	2	1	2	0	2	5	8			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:180851528C>T	ENST00000410053.3	-	4	399	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	CWC22_ENST00000295749.6_Missense_Mutation_p.E34K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	34	Arg-rich.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCTTGTTCTTCATATCTAACA	0.328																																																	0													50	45	46					2																	180851528		1795	4078	5873	SO:0001583	missense	0				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.100G>A	2.37:g.180851528C>T	ENSP00000387006:p.Glu34Lys		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.E34K	ENST00000410053.3	37	c.100	CCDS46465.1	2	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.158638	0.01686	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.29917	1.55;1.55;1.55	6.06	1.16	0.20824	.	0.974819	0.08494	N	0.937508	T	0.15955	0.0384	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.31696	-0.9934	10	0.07482	T	0.82	-0.1826	9.1972	0.37235	0.0:0.5216:0.0:0.4784	.	34	Q9HCG8	CWC22_HUMAN	K	34	ENSP00000387006:E34K;ENSP00000295749:E34K;ENSP00000384159:E34K	ENSP00000295749:E34K	E	-	1	0	CWC22	180559773	0.577000	0.26708	0.436000	0.26797	0.039000	0.13416	-0.198000	0.09505	-0.062000	0.13088	-0.136000	0.14681	GAA	CWC22	-	NULL	ENSG00000163510		0.328	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	HGNC	protein_coding	OTTHUMT00000334537.1	-	0	40	0	C	NM_020943		180851528	-1	tier1	-	no_errors	ENST00000295749	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.160	T	T	180851528	C	T	180851528	3	4	172	1	0	0	0	0	1	0	0	0	4077	835	29	3	2694	3	CWC22	2	180851528	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	1422572	180851528	62347845	38	43182											
ZNF804A	91752	genome.wustl.edu	37	chr2	185803171	185803171	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacatgtcagtggtcatacTtttgtaacagctgagcaaat	12	12	9	8	0	2	1	2	1	0	0	2	1	2	1	0	1	4	4	0	1	3	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:185803171T>C	ENST00000302277.6	+	4	3642	c.3048T>C	c.(3046-3048)acT>acC	p.T1016T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1016							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTGGTCATACTTTTGTAACAG	0.403																																																	0													96	92	93					2																	185803171		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3048T>C	2.37:g.185803171T>C			A7E253|Q6ZN26	Silent	SNP	pfam_Znf_C2H2_jaz	p.T1016	ENST00000302277.6	37	c.3048	CCDS2291.1	2																																																																																			ZNF804A	-	NULL	ENSG00000170396		0.403	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	27	0	T	NM_194250		185803171	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	silent	39.47	23	15	SNP	0.532	C	C	185803171	T	C	185803171	2	2	172	1	0	0	0	0	0	0	0	1	18218	1596	56	4		4	ZNF804A	2	185803171	Silent	SNP	T	TCGA-VR-AA4D-01A-11D-A37C-09	4951643	185803171	57396202	39	43183											
AOX1	316	genome.wustl.edu	37	chr2	201473840	201473840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggaactctggctgggtcCcagatcaggaacatggctgt	8	10	14	9	0	2	1	1	0	1	1	3	3	3	3	1	5	2	2	1	5	2	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:201473840C>T	ENST00000374700.2	+	11	1282	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	347	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				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)	TGGCTGGGTCCCAGATCAGGA	0.463																																																	0													92	89	90					2																	201473840		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1041C>T	2.37:g.201473840C>T			O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.S347	ENST00000374700.2	37	c.1041	CCDS33360.1	2																																																																																			AOX1	-	pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.463	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	-	0	35	0	C	NM_001159		201473840	1	tier1	-	no_errors	ENST00000374700	ensembl	human	known	74_37	silent	37.14	22	13	SNP	0.001	T	T	201473840	C	T	201473840	2	4	172	1	0	0	0	0	0	0	0	1	729	610	22	3		3	AOX1	2	201473840	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	15670669	201473840	41725533	40	43184											
MDH1B	130752	genome.wustl.edu	37	chr2	207613753	207613753	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagatttaccttcactcaAtattcctaaagatacaatct	14	13	2	12	0	3	2	2	0	1	2	4	2	4	2	3	0	2	0	3	0	7	7			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:207613753A>T	ENST00000374412.3	-	7	1482	c.1207T>A	c.(1207-1209)Ttg>Atg	p.L403M	MDH1B_ENST00000449792.1_Missense_Mutation_p.L305M|MDH1B_ENST00000392214.2_Missense_Mutation_p.L190M|MDH1B_ENST00000454776.2_Missense_Mutation_p.L403M	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	403					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CCTTCACTCAATATTCCTAAA	0.408																																					Pancreas(76;29 1355 28675 37177 51207)												0													103	95	98					2																	207613753		2203	4300	6503	SO:0001583	missense	0				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1207T>A	2.37:g.207613753A>T	ENSP00000363533:p.Leu403Met		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.L403M	ENST00000374412.3	37	c.1207	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	A	7.883	0.730735	0.15507	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776;ENST00000392214	T;T;T;T	0.68025	-0.3;-0.3;-0.3;2.87	5.75	-11.5	0.00074	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.487586	0.20912	N	0.083447	T	0.41811	0.1175	N	0.25485	0.75	0.09310	N	1	B;B	0.25235	0.099;0.121	B;B	0.32022	0.085;0.139	T	0.22312	-1.0220	10	0.27082	T	0.32	-5.6931	9.0454	0.36343	0.1695:0.0:0.5026:0.3279	.	403;403	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	M	403;305;403;190	ENSP00000363533:L403M;ENSP00000416577:L305M;ENSP00000389916:L403M;ENSP00000376049:L190M	ENSP00000363533:L403M	L	-	1	2	MDH1B	207321998	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-1.706000	0.01895	-1.745000	0.01337	-0.297000	0.09499	TTG	MDH1B	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	ENSG00000138400		0.408	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2		0	49	0	A	NM_001039845		207613753	-1			no_errors	ENST00000374412	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.001	T	T	207613753	A	T	207613753	3	4	172	1	0	0	0	0	1	0	0	0	9447	98	4	5	373	5	MDH1B	2	207613753	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	6139913	207613753	35585620	41	43185											
TNS1	7145	genome.wustl.edu	37	chr2	218700896	218700896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cgcccgcctccgcagaggggCtgggggctctgcaggctgct	3	6	17	15	3	1	1	0	0	1	1	2	1	2	1	3	5	2	6	3	5	0	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:218700896C>A	ENST00000171887.4	-	18	3123	c.2671G>T	c.(2671-2673)Gcc>Tcc	p.A891S	TNS1_ENST00000430930.1_Missense_Mutation_p.A891S|TNS1_ENST00000419504.1_Missense_Mutation_p.A891S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	891					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)		CGCAGAGGGGCTGGGGGCTCT	0.597																																																	0													38	42	41					2																	218700896		2203	4300	6503	SO:0001583	missense	0			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.2671G>T	2.37:g.218700896C>A	ENSP00000171887:p.Ala891Ser		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.A891S	ENST00000171887.4	37	c.2671	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056708	0.36277	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91124	-2.79;2.25;-2.78;-2.77	5.38	4.47	0.54385	.	0.422908	0.24988	N	0.034014	T	0.77785	0.4182	N	0.08118	0	0.80722	D	1	B;B;B	0.12013	0.004;0.001;0.005	B;B;B	0.09377	0.004;0.004;0.003	T	0.70960	-0.4730	10	0.12766	T	0.61	.	10.616	0.45451	0.1366:0.7157:0.1477:0.0	.	891;891;891	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	S	891;50;891;891	ENSP00000171887:A891S;ENSP00000394171:A50S;ENSP00000408724:A891S;ENSP00000406016:A891S	ENSP00000171887:A891S	A	-	1	0	TNS1	218409141	0.609000	0.26975	1.000000	0.80357	0.996000	0.88848	1.608000	0.36847	2.793000	0.96121	0.655000	0.94253	GCC	TNS1	-	NULL	ENSG00000079308		0.597	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	-	0	73	0	C	NM_022648		218700896	-1	tier1	-	no_errors	ENST00000171887	ensembl	human	known	74_37	missense	23.40	71	22	SNP	0.997	A	A	218700896	C	A	218700896	3	1	172	1	0	0	0	0	1	0	0	0	16390	797	28	3	2600	3	TNS1	2	218700896	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	11087143	218700896	24498477	42	43186											
OR6B2	389090	genome.wustl.edu	37	chr2	240969167	240969167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccggtggccgaggggatgCgcaggacagccagggtgatg	8	4	20	9	3	0	1	0	1	0	0	0	4	0	3	3	6	3	1	3	6	0	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr2:240969167C>T	ENST00000402971.2	-	1	739	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	227			R -> C (in dbSNP:rs60841887).			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)		CGAGGGGATGCGCAGGACAGC	0.567																																																	0													46	52	50					2																	240969167		2122	4240	6362	SO:0001583	missense	0				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.680G>A	2.37:g.240969167C>T	ENSP00000384563:p.Arg227His		B2RPR3|Q8NGW0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R227H	ENST00000402971.2	37	c.680	CCDS46559.1	2	.	.	.	.	.	.	.	.	.	.	C	1.635	-0.517879	0.04171	.	.	ENSG00000182083	ENST00000402971	T	0.00262	8.4	4.36	-3.84	0.04256	GPCR, rhodopsin-like superfamily (1);	1.017780	0.07875	N	0.968626	T	0.00144	0.0004	L	0.27944	0.81	0.09310	N	1	B	0.14438	0.01	B	0.20384	0.029	T	0.12528	-1.0544	10	0.52906	T	0.07	.	11.2971	0.49284	0.0:0.3898:0.0:0.6102	.	227	Q6IFH4	OR6B2_HUMAN	H	227	ENSP00000384563:R227H	ENSP00000384563:R227H	R	-	2	0	OR6B2	240617840	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	-1.393000	0.02521	-0.848000	0.04163	-0.218000	0.12543	CGC	OR6B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182083		0.567	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B2	HGNC	protein_coding	OTTHUMT00000326079.1	-	0	37	0	C	NM_001005853		240969167	-1	tier1	-	no_errors	ENST00000402971	ensembl	human	known	74_37	missense	13.95	36	6	SNP	0.000	T	T	240969167	C	T	240969167	3	4	172	1	0	0	0	0	1	0	0	0	11227	768	27	1	260	1	OR6B2	2	240969167	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	22268271	240969167	2230206	43	43187											
CAND2	23066	genome.wustl.edu	37	chr3	12858877	12858877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagccctctcagctgcctgtCcccaagaggcggcaagcaca	9	5	10	17	1	1	1	1	0	1	1	3	1	2	1	4	2	4	3	4	2	2	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:12858877C>T	ENST00000456430.2	+	10	2487	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	CAND2_ENST00000295989.5_Missense_Mutation_p.P723S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	816					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						AGCTGCCTGTCCCCAAGAGGC	0.642																																					GBM(43;676 868 1633 6395 37496)												0													45	51	49					3																	12858877		2049	4205	6254	SO:0001583	missense	0				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.2446C>T	3.37:g.12858877C>T	ENSP00000387641:p.Pro816Ser		B9EGM9|E9KL24	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.P816S	ENST00000456430.2	37	c.2446	CCDS54554.1	3	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873681	0.72180	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.65178	-0.14;-0.14	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	L	0.57536	1.79	0.80722	D	1	B;D	0.71674	0.435;0.998	B;D	0.80764	0.067;0.994	T	0.68025	-0.5518	10	0.14656	T	0.56	-8.0736	15.7692	0.78152	0.0:1.0:0.0:0.0	.	816;723	O75155;O75155-2	CAND2_HUMAN;.	S	723;816	ENSP00000295989:P723S;ENSP00000387641:P816S	ENSP00000295989:P723S	P	+	1	0	CAND2	12833877	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.728000	0.68531	2.359000	0.80004	0.561000	0.74099	CCC	CAND2	-	superfamily_ARM-type_fold	ENSG00000144712		0.642	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	-	0	63	0	C	XM_371617		12858877	1	tier1	-	no_errors	ENST00000456430	ensembl	human	known	74_37	missense	32.08	36	17	SNP	1.000	T	T	12858877	C	T	12858877	3	4	172	1	0	0	0	0	1	0	0	0	2623	855	30	3	2484	3	CAND2	3	12858877	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09		12858877	185163553	44	43188											
KAT2B	8850	genome.wustl.edu	37	chr3	20136842	20136842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgtggaatatctctttaCctgtgtccacaaggaagaag	12	11	11	7	0	1	1	0	0	1	1	3	4	2	4	2	3	1	0	2	3	6	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:20136842C>A	ENST00000263754.4	+	3	973	c.518C>A	c.(517-519)aCc>aAc	p.T173N	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	173					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						TATCTCTTTACCTGTGTCCAC	0.348																																																	0													99	102	101					3																	20136842		2203	4300	6503	SO:0001583	missense	0			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.518C>A	3.37:g.20136842C>A	ENSP00000263754:p.Thr173Asn		Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.T173N	ENST00000263754.4	37	c.518	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698136	0.88830	.	.	ENSG00000114166	ENST00000263754	T	0.20598	2.06	5.6	5.6	0.85130	PCAF, N-terminal (1);	0.092549	0.85682	D	0.000000	T	0.37732	0.1014	L	0.46157	1.445	0.80722	D	1	D	0.55385	0.971	P	0.56865	0.808	T	0.04386	-1.0955	10	0.66056	D	0.02	-6.607	19.6097	0.95600	0.0:1.0:0.0:0.0	.	173	Q92831	KAT2B_HUMAN	N	173	ENSP00000263754:T173N	ENSP00000263754:T173N	T	+	2	0	KAT2B	20111846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.859000	0.62954	2.635000	0.89317	0.555000	0.69702	ACC	KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N	ENSG00000114166		0.348	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	-	0	66	0	C	NM_003884		20136842	1	tier1	-	no_errors	ENST00000263754	ensembl	human	known	74_37	missense	23.26	33	10	SNP	1.000	A	A	20136842	C	A	20136842	3	1	172	1	0	0	0	0	1	0	0	0	8009	507	18	3	528	3	KAT2B	3	20136842	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	7277965	20136842	177885588	45	43189											
ACVR2B	93	genome.wustl.edu	37	chr3	38519461	38519461	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaggctgggggcccggaaGgtaagggggcagtgtggaag	9	4	22	6	1	0	1	0	0	0	1	0	3	0	3	1	8	0	3	1	8	3	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:38519461G>C	ENST00000352511.4	+	3	842	c.370G>C	c.(370-372)Gtc>Ctc	p.V124L		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	124					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GGGCCCGGAAGGTAAGGGGGC	0.607																																																	0													61	64	63					3																	38519461		2203	4300	6503	SO:0001630	splice_region_variant	0			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.370+1G>C	3.37:g.38519461G>C			Q4VAV0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.V124L	ENST00000352511.4	37	c.370	CCDS2679.1	3	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433148	0.25813	.	.	ENSG00000114739	ENST00000352511	D	0.83837	-1.77	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000005	T	0.74680	0.3748	L	0.29908	0.895	0.58432	D	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.69339	-0.5171	10	0.27785	T	0.31	.	15.961	0.79930	0.0:0.0:1.0:0.0	.	124	Q13705	AVR2B_HUMAN	L	124	ENSP00000340361:V124L	ENSP00000340361:V124L	V	+	1	0	ACVR2B	38494465	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	5.608000	0.67654	2.203000	0.70933	0.462000	0.41574	GTC	ACVR2B	-	NULL	ENSG00000114739		0.607	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2B	HGNC	protein_coding	OTTHUMT00000254059.3	-	0	36	0	G	NM_001106	Missense_Mutation	38519461	1	tier1	-	no_errors	ENST00000352511	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	C	C	38519461	G	C	38519461	5	2	172	1	0	0	0	0	0	0	1	0	224	1014	35	5	380	5	ACVR2B	3	38519461	Splice_Site	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	18382619	38519461	159502969	46	43190											
CCR9	10803	genome.wustl.edu	37	chr3	45943064	45943064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatcactgtcctgaccGtctttgtcttgtctcagttt	5	17	7	12	1	4	2	2	2	3	0	6	2	5	2	3	0	0	1	3	0	0	3	rs202070482	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:45943064G>A	ENST00000357632.2	+	3	964	c.784G>A	c.(784-786)Gtc>Atc	p.V262I	LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.V250I|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.V250I	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	262					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)		TGTCCTGACCGTCTTTGTCTT	0.473													G|||	2	0.000399361	0.0015	0	5008	,	,		24014	0		0	False		,,,				2504	0																0								G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	214	174	188		748,784	5	0.7	3		188	0,8600		0,0,4300	no	missense,missense	CCR9	NM_006641.3,NM_031200.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	250/358,262/370	45943064	1,13005	2203	4300	6503	SO:0001583	missense	0			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.784G>A	3.37:g.45943064G>A	ENSP00000350256:p.Val262Ile		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4	p.V262I	ENST00000357632.2	37	c.784	CCDS2732.1	3	.	.	.	.	.	.	.	.	.	.	G	19.29	3.800126	0.70567	2.27E-4	0.0	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.75154	-0.91;-0.91;-0.91	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.236680	0.34932	N	0.003572	D	0.83156	0.5193	M	0.64630	1.985	0.47621	D	0.999479	D	0.58268	0.982	P	0.60117	0.869	D	0.85147	0.0984	10	0.66056	D	0.02	.	18.243	0.89974	0.0:0.0:1.0:0.0	.	262	P51686	CCR9_HUMAN	I	262;250;250	ENSP00000350256:V262I;ENSP00000379292:V250I;ENSP00000348260:V250I	ENSP00000348260:V250I	V	+	1	0	CCR9	45918068	1.000000	0.71417	0.674000	0.29902	0.967000	0.64934	4.193000	0.58385	2.289000	0.77006	0.563000	0.77884	GTC	CCR9	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000173585		0.473	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	HGNC	protein_coding	OTTHUMT00000257323.2	-	0	46	0	G			45943064	1	tier1	rs202070482	no_errors	ENST00000357632	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	A	A	45943064	G	A	45943064	3	1	172	1	0	0	0	0	1	0	0	0	2955	1145	40	1	790	1	CCR9	3	45943064	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	7423603	45943064	152079366	47	43191											
APEH	327	genome.wustl.edu	37	chr3	49713608	49713608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttggacgtcagtgccagcGatgatgagatagccaggctg	9	8	14	10	2	1	2	1	2	0	1	1	5	1	3	3	2	3	1	3	2	1	2	rs374901664		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:49713608G>A	ENST00000296456.5	+	6	962	c.562G>A	c.(562-564)Gat>Aat	p.D188N	APEH_ENST00000438011.1_Missense_Mutation_p.D188N	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	188					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)		CAGTGCCAGCGATGATGAGAT	0.587																																																	0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	54	54	54		562	4.5	0.7	3		54	0,8600		0,0,4300	no	missense	APEH	NM_001640.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	188/733	49713608	1,13005	2203	4300	6503	SO:0001583	missense	0			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.562G>A	3.37:g.49713608G>A	ENSP00000296456:p.Asp188Asn		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro	p.D188N	ENST00000296456.5	37	c.562	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434598	0.43224	2.27E-4	0.0	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T	0.50813	0.87;0.87;0.73	4.51	4.51	0.55191	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.114932	0.56097	D	0.000021	T	0.26304	0.0642	N	0.08118	0	0.31267	N	0.692221	B;B	0.25007	0.022;0.116	B;B	0.18263	0.007;0.021	T	0.14559	-1.0468	10	0.19147	T	0.46	-0.4742	13.9779	0.64284	0.0:0.0:0.8484:0.1516	.	188;188	C9JIF9;P13798	.;ACPH_HUMAN	N	188;87;113;188;185	ENSP00000296456:D188N;ENSP00000415862:D188N;ENSP00000410366:D185N	ENSP00000296456:D188N	D	+	1	0	APEH	49688612	0.998000	0.40836	0.723000	0.30687	0.919000	0.55068	2.474000	0.45154	2.336000	0.79503	0.591000	0.81541	GAT	APEH	-	NULL	ENSG00000164062		0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEH	HGNC	protein_coding	OTTHUMT00000346415.2	-	0	42	0	G			49713608	1	tier1	-	no_errors	ENST00000296456	ensembl	human	known	74_37	missense	54.55	10	12	SNP	0.863	A	A	49713608	G	A	49713608	3	1	172	1	0	0	0	0	1	0	0	0	768	1058	37	1	584	1	APEH	3	49713608	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	3770544	49713608	148308822	48	43192											
PDZRN3	23024	genome.wustl.edu	37	chr3	73453349	73453349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgggctgggagaggacatCttagtgagggccatgatatg	9	9	18	5	0	1	3	0	2	1	1	1	5	1	4	1	5	0	1	1	5	2	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:73453349C>T	ENST00000263666.4	-	4	1230	c.1116G>A	c.(1114-1116)aaG>aaA	p.K372K	PDZRN3_ENST00000466780.1_Silent_p.K29K|PDZRN3_ENST00000462146.2_Silent_p.K29K|PDZRN3_ENST00000535920.1_Silent_p.K94K|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Silent_p.K89K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	372					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)		GAGAGGACATCTTAGTGAGGG	0.493																																																	0													175	143	154					3																	73453349		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1116G>A	3.37:g.73453349C>T			A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.K372	ENST00000263666.4	37	c.1116	CCDS33789.1	3																																																																																			PDZRN3	-	NULL	ENSG00000121440		0.493	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0	67	0	C	XM_041363		73453349	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	silent	36.96	29	17	SNP	1.000	T	T	73453349	C	T	73453349	2	4	172	1	0	0	0	0	0	0	0	1	11748	912	32	3		3	PDZRN3	3	73453349	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	23739741	73453349	124569081	49	43193											
ROBO1	6091	genome.wustl.edu	37	chr3	78689016	78689016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgccagccatggctgcGcggcaggttcactgatgttg	5	11	14	11	2	2	1	1	1	1	0	2	1	2	1	2	3	3	4	2	3	0	2	rs554782891		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:78689016G>A	ENST00000464233.1	-	22	3028	c.2915C>T	c.(2914-2916)gCg>gTg	p.A972V	ROBO1_ENST00000467549.1_Missense_Mutation_p.A927V|ROBO1_ENST00000436010.2_Missense_Mutation_p.A933V|ROBO1_ENST00000495273.1_Missense_Mutation_p.A927V	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	972					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.A927V(1)|p.A972V(1)|p.A949V(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)		CCATGGCTGCGCGGCAGGTTC	0.428													G|||	1	0.000199681	0	0	5008	,	,		16924	0.001		0	False		,,,				2504	0																3	Substitution - Missense(3)	large_intestine(3)											52	49	50					3																	78689016		1938	4145	6083	SO:0001583	missense	0			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.2915C>T	3.37:g.78689016G>A	ENSP00000420321:p.Ala972Val		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A972V	ENST00000464233.1	37	c.2915	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689869	0.29962	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.60548	0.22;0.2;0.2;0.18	5.65	5.65	0.86999	.	0.361650	0.33959	N	0.004387	T	0.42630	0.1211	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.26635	0.046;0.155;0.081;0.045;0.081	B;B;B;B;B	0.25987	0.036;0.047;0.022;0.018;0.065	T	0.23261	-1.0193	9	.	.	.	.	14.5415	0.67999	0.0:0.0:0.8536:0.1464	.	936;972;927;927;933	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	V	933;927;972;927;927;976	ENSP00000406043:A933V;ENSP00000420321:A972V;ENSP00000420637:A927V;ENSP00000417992:A927V	.	A	-	2	0	ROBO1	78771706	0.997000	0.39634	0.056000	0.19401	0.057000	0.15508	7.500000	0.81588	2.664000	0.90586	0.491000	0.48974	GCG	ROBO1	-	NULL	ENSG00000169855		0.428	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0	24	0	G	NM_002941		78689016	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.253	A	A	78689016	G	A	78689016	3	1	172	1	0	0	0	0	1	0	0	0	13558	1087	38	1	2080	1	ROBO1	3	78689016	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	5235667	78689016	119333414	50	43194											
MRPL3	11222	genome.wustl.edu	37	chr3	131217123	131217124	+	Splice_Site	INS	-	-	A																															gacatgacagtcttgtacctINSaaaaaaacaaacataaaaaa																										TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:131217123_131217124insA	ENST00000264995.3	-	4	517		c.e4-2		MRPL3_ENST00000425847.2_Splice_Site|MRPL3_ENST00000506946.1_Splice_Site	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3						translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTCTTGTACCTAAAAAAACAAA	0.347																																																	0																																										SO:0001630	splice_region_variant	0			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"Mitochondrial ribosomal proteins / large subunits"	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.370-2->T	3.37:g.131217130_131217130dupA			Q6IBT2	Splice_Site	INS	-	e4-2	ENST00000264995.3	37	c.370-3_370-2	CCDS3071.1	3																																																																																			MRPL3	-	-	ENSG00000114686		0.347	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL3	HGNC	protein_coding	OTTHUMT00000356471.3		0	46	0	-	NM_007208	Intron	131217124	-1	tier1		no_errors	ENST00000264995	ensembl	human	known	74_37	splice_site_ins	9.09	20	2	INS	0.998:0.911	A	A	131217124	-	A	131217123	8	5	172	1	0	1	1	0	0	0	1	0	9831	1536	53	0	706	0	MRPL3	3	131217123	Splice_Site	INS	-	TCGA-VR-AA4D-01A-11D-A37C-09	52528107	131217123	66805307	51	43195											
CLSTN2	64084	genome.wustl.edu	37	chr3	140284997	140284999	+	In_Frame_Del	DEL	GAG	GAG	-																															gtggctctgacgacagcgaaGaggaggaggaggaggaaggg																								rs375578630|rs10573488	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr3:140284997_140284999delGAG	ENST00000458420.3	+	17	2960_2962	c.2770_2772delGAG	c.(2770-2772)gagdel	p.E929del		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	929	Glu-rich (highly acidic).				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CGACAGCGAAGAGGAGGAGGAGG	0.591										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0																																										SO:0001651	inframe_deletion	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2770_2772delGAG	3.37:g.140285006_140285008delGAG	ENSP00000402460:p.Glu929del		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	In_Frame_Del	DEL	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E927in_frame_del	ENST00000458420.3	37	c.2770_2772	CCDS3112.1	3																																																																																			CLSTN2	-	NULL	ENSG00000158258		0.591	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3		0	52	0	GAG	NM_022131		140284999	1	tier1		no_errors	ENST00000458420	ensembl	human	known	74_37	in_frame_del	6.06	31	2	DEL	0.989:0.994:0.995	-	-	140284999	GAG	-	140284997	7	5	172	1	0	1	0	1	0	0	0	0	3569	943	33	0	2836	0	CLSTN2	3	140284997	In_Frame_Del	DEL	GAG	TCGA-VR-AA4D-01A-11D-A37C-09	9067874	140284997	57737433	52	43196											
TMPRSS11B	132724	genome.wustl.edu	37	chr4	69094484	69094484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	catgcatcagcttctcctgaCataaatccagcacataacat	14	10	4	13	0	2	1	1	1	1	0	4	1	3	1	2	0	4	3	2	0	3	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:69094484C>T	ENST00000332644.5	-	9	1226	c.1065G>A	c.(1063-1065)atG>atA	p.M355I		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	355	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CTTCTCCTGACATAAATCCAG	0.333																																																	0													137	124	128					4																	69094484		2203	4300	6503	SO:0001583	missense	0			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.1065G>A	4.37:g.69094484C>T	ENSP00000330475:p.Met355Ile		A8K4D9	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.M355I	ENST00000332644.5	37	c.1065	CCDS3521.1	4	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814914	0.32053	.	.	ENSG00000185873	ENST00000332644	D	0.88664	-2.41	4.47	3.61	0.41365	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.124168	0.36200	N	0.002734	T	0.80654	0.4664	N	0.17764	0.52	0.09310	N	0.999997	B	0.30563	0.285	B	0.31686	0.134	T	0.73646	-0.3917	10	0.59425	D	0.04	.	10.8736	0.46899	0.0:0.9055:0.0:0.0945	.	355	Q86T26	TM11B_HUMAN	I	355	ENSP00000330475:M355I	ENSP00000330475:M355I	M	-	3	0	TMPRSS11B	68777079	0.018000	0.18449	0.073000	0.20177	0.038000	0.13279	0.695000	0.25527	1.229000	0.43630	0.655000	0.94253	ATG	TMPRSS11B	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1	ENSG00000185873		0.333	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11B	HGNC	protein_coding	OTTHUMT00000251431.2	-	0	33	0	C	NM_182502		69094484	-1	tier1	-	no_errors	ENST00000332644	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.333	T	T	69094484	C	T	69094484	3	4	172	1	0	0	0	0	1	0	0	0	16287	478	17	3	193	3	TMPRSS11B	4	69094484	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09		69094484	122059792	53	43197											
ODAM	54959	genome.wustl.edu	37	chr4	71062422	71062422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttagcttatcccacagcGtctcatgtctgccagcaata	9	13	6	13	1	2	0	1	0	2	0	4	0	3	0	2	0	4	2	2	0	4	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:71062422G>A	ENST00000396094.2	+	2	113	c.65G>A	c.(64-66)cGt>cAt	p.R22H		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	22					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						ATCCCACAGCGTCTCATGTCT	0.343																																																	0													65	60	61					4																	71062422		1826	4081	5907	SO:0001583	missense	0			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.65G>A	4.37:g.71062422G>A	ENSP00000379401:p.Arg22His		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	NULL	p.R22H	ENST00000396094.2	37	c.65	CCDS3536.2	4	.	.	.	.	.	.	.	.	.	.	G	3.712	-0.059392	0.07317	.	.	ENSG00000109205	ENST00000396094	T	0.50001	0.76	5.39	-2.2	0.06994	.	.	.	.	.	T	0.31979	0.0814	L	0.38838	1.175	0.09310	N	0.999998	B	0.16396	0.017	B	0.08055	0.003	T	0.21449	-1.0245	9	0.39692	T	0.17	0.0109	6.3621	0.21435	0.5435:0.1481:0.3085:0.0	.	22	A1E959	ODAM_HUMAN	H	22	ENSP00000379401:R22H	ENSP00000379401:R22H	R	+	2	0	ODAM	71097011	0.001000	0.12720	0.007000	0.13788	0.003000	0.03518	-0.580000	0.05827	-0.341000	0.08376	-1.000000	0.02509	CGT	ODAM	-	NULL	ENSG00000109205		0.343	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODAM	HGNC	protein_coding	OTTHUMT00000251562.1	-	0	58	0	G	NM_017855		71062422	1	tier1	-	no_errors	ENST00000396094	ensembl	human	known	74_37	missense	22.03	46	13	SNP	0.005	A	A	71062422	G	A	71062422	3	1	172	1	0	0	0	0	1	0	0	0	10863	1145	40	1	71	1	ODAM	4	71062422	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	1967938	71062422	120091854	54	43198											
AFF1	4299	genome.wustl.edu	37	chr4	88011154	88011154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaaatgacccattcatggCcgcctcctttgacagcaata	12	9	8	12	1	1	2	1	2	0	0	2	3	2	3	4	2	1	1	4	2	3	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:88011154C>T	ENST00000307808.6	+	5	1522	c.1102C>T	c.(1102-1104)Ccg>Tcg	p.P368S	AFF1_ENST00000544085.1_Missense_Mutation_p.P6S|AFF1_ENST00000395146.4_Missense_Mutation_p.P375S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	368					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)		CCATTCATGGCCGCCTCCTTT	0.373																																																	0													98	91	93					4																	88011154		2203	4300	6503	SO:0001583	missense	0			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.1102C>T	4.37:g.88011154C>T	ENSP00000305689:p.Pro368Ser		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.P375S	ENST00000307808.6	37	c.1123	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354583	0.82243	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000507468;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	D	0.83468	0.5261	M	0.83118	2.625	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.999	D	0.85287	0.1065	10	0.59425	D	0.04	-16.8724	17.8608	0.88780	0.0:1.0:0.0:0.0	.	375;368;368;375	E9PBM3;Q14C88;P51825;B4DTU1	.;.;AFF1_HUMAN;.	S	375;29;374;368;6;6;59	ENSP00000378578:P375S;ENSP00000427593:P374S;ENSP00000305689:P368S;ENSP00000424766:P6S;ENSP00000440843:P6S;ENSP00000424881:P59S	ENSP00000305689:P368S	P	+	1	0	AFF1	88230178	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	6.188000	0.72045	2.515000	0.84797	0.650000	0.86243	CCG	AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.373	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3		0	49	0	C	NM_005935		88011154	1			no_errors	ENST00000395146	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	88011154	C	T	88011154	3	4	172	1	0	0	0	0	1	0	0	0	356	739	26	3	1162	3	AFF1	4	88011154	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	16948732	88011154	103143122	55	43199											
GRID2	2895	genome.wustl.edu	37	chr4	94145855	94145855	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagtggcacagcatggcaAgtctgtcatgtatcagaaag	14	8	12	7	0	3	1	2	0	1	1	3	2	3	1	0	2	1	4	0	2	4	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:94145855A>C	ENST00000282020.4	+	7	1312	c.1054A>C	c.(1054-1056)Agt>Cgt	p.S352R	GRID2_ENST00000510992.1_Missense_Mutation_p.S257R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	352					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)		CAGCATGGCAAGTCTGTCATG	0.438																																																	0													78	76	77					4																	94145855		2203	4300	6503	SO:0001583	missense	0			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.1054A>C	4.37:g.94145855A>C	ENSP00000282020:p.Ser352Arg		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S352R	ENST00000282020.4	37	c.1054	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713890	0.68730	.	.	ENSG00000152208	ENST00000282020;ENST00000510992;ENST00000512631	D;D;D	0.87334	-2.24;-2.24;-2.24	5.53	4.36	0.52297	Extracellular ligand-binding receptor (1);	0.045708	0.85682	D	0.000000	D	0.88537	0.6463	L	0.43923	1.385	0.80722	D	1	P;D;D	0.59767	0.918;0.986;0.984	P;P;P	0.59288	0.697;0.8;0.855	D	0.88489	0.3074	10	0.87932	D	0	.	11.3063	0.49336	0.9291:0.0:0.0709:0.0	.	257;352;257	E9PH24;O43424;Q4KKU8	.;GRID2_HUMAN;.	R	352;257;33	ENSP00000282020:S352R;ENSP00000421257:S257R;ENSP00000423331:S33R	ENSP00000282020:S352R	S	+	1	0	GRID2	94364878	1.000000	0.71417	0.046000	0.18839	0.654000	0.38779	9.339000	0.96797	0.941000	0.37499	0.533000	0.62120	AGT	GRID2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152208		0.438	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	-	0	32	0	A			94145855	1	tier1	-	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	32.50	27	13	SNP	0.995	C	C	94145855	A	C	94145855	3	2	172	1	0	0	0	0	1	0	0	0	6799	72	3	4	1080	4	GRID2	4	94145855	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	6134701	94145855	97008421	56	43200											
MND1	84057	genome.wustl.edu	37	chr4	154279649	154279649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtcagtaaaagaagtcCttcaaagcttagttgatgat	14	13	8	6	0	2	3	2	2	0	1	3	3	3	3	1	0	1	3	1	0	6	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:154279649C>T	ENST00000504860.1	+	3	149	c.106C>T	c.(106-108)Ctt>Ttt	p.L36F	AC013477.1_ENST00000578990.1_RNA|MND1_ENST00000240488.3_Missense_Mutation_p.L51F					meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AAAAGAAGTCCTTCAAAGCTT	0.343																																																	0													130	129	129					4																	154279649		2203	4300	6503	SO:0001583	missense	0			AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.106C>T	4.37:g.154279649C>T	ENSP00000422933:p.Leu36Phe			Missense_Mutation	SNP	pfam_Mnd1,pfam_BlaI_family,pirsf_Mnd1	p.L51F	ENST00000504860.1	37	c.151		4	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318797	0.60524	.	.	ENSG00000121211	ENST00000240488;ENST00000508731;ENST00000504860	.	.	.	5.7	5.7	0.88788	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.90019	3.08	0.58432	D	0.999997	D	0.59767	0.986	D	0.65140	0.932	T	0.82772	-0.0292	9	0.62326	D	0.03	-13.1617	10.2927	0.43605	0.0:0.8535:0.0:0.1465	.	51	Q9BWT6	MND1_HUMAN	F	51;36;36	.	ENSP00000240488:L51F	L	+	1	0	MND1	154499099	0.995000	0.38212	0.974000	0.42286	0.977000	0.68977	3.001000	0.49488	2.682000	0.91365	0.555000	0.69702	CTT	MND1	-	pfam_Mnd1,pfam_BlaI_family,pirsf_Mnd1	ENSG00000121211		0.343	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	MND1	HGNC	protein_coding	OTTHUMT00000365195.1	-	0	37	0	C	NM_032117		154279649	1	tier1	-	no_errors	ENST00000240488	ensembl	human	known	74_37	missense	55.88	15	19	SNP	0.996	T	T	154279649	C	T	154279649	3	4	172	1	0	0	0	0	1	0	0	0	9713	681	24	3	165	3	MND1	4	154279649	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	60133794	154279649	36874627	57	43201											
ACCN5	51802	genome.wustl.edu	37	chr4	156784805	156784805	+	Frame_Shift_Del	DEL	G	G	-																															aacaatattgtgtatcccatGaaaggaagtggagatggcaa																										TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:156784805delG	ENST00000537611.2	-	2	188	c.142delC	c.(142-144)catfs	p.H48fs	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	48					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										TGTATCCCATGAAAGGAAGTG	0.458																																																	0													123	119	120					4																	156784805		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.142delC	4.37:g.156784805delG	ENSP00000442477:p.His48fs			Frame_Shift_Del	DEL	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.H48fs	ENST00000537611.2	37	c.142	CCDS3793.1	4																																																																																			ASIC5	-	pfam_Na+channel_ASC	ENSG00000256394		0.458	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC5	HGNC	protein_coding	OTTHUMT00000366464.1		0	66	0	G			156784805	-1	tier1		no_errors	ENST00000537611	ensembl	human	known	74_37	frame_shift_del	31.03	40	18	DEL	1.000	-	-	156784805	G	-	156784805	7	5	172	1	0	1	0	1	0	0	0	0	132	1290	45	0	1411	0	ACCN5	4	156784805	Frame_Shift_Del	DEL	G	TCGA-VR-AA4D-01A-11D-A37C-09	2505156	156784805	34369471	58	43202											
DDX60	55601	genome.wustl.edu	37	chr4	169229302	169229302	+	Frame_Shift_Del	DEL	A	A	-																															gtaatgaatccccatcaatcAaaaaaaattcagattcaaca																										TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr4:169229302delA	ENST00000393743.3	-	4	410	c.119delT	c.(118-120)ttgfs	p.L40fs	snoU13_ENST00000459352.1_RNA	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	40					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)		CCCATCAATCAAAAAAAATTC	0.308																																																	0													47	49	48					4																	169229302		2203	4300	6503	SO:0001589	frameshift_variant	0			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.119delT	4.37:g.169229302delA	ENSP00000377344:p.Leu40fs		Q6PK35|Q9NVE3	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L40fs	ENST00000393743.3	37	c.119	CCDS34097.1	4																																																																																			DDX60	-	NULL	ENSG00000137628		0.308	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1		0	60	0	A	NM_017631		169229302	-1	tier1		no_errors	ENST00000393743	ensembl	human	known	74_37	frame_shift_del	9.30	39	4	DEL	0.999	-	-	169229302	A	-	169229302	7	5	172	1	0	1	0	1	0	0	0	0	4387	131	5	0	5159	0	DDX60	4	169229302	Frame_Shift_Del	DEL	A	TCGA-VR-AA4D-01A-11D-A37C-09	12444497	169229302	21924974	59	43203											
CDH18	1016	genome.wustl.edu	37	chr5	19591263	19591263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggagtaggtcatgtcaGcatttgagccagtgtcagca	10	11	13	7	0	3	2	3	2	0	0	3	3	3	3	1	2	3	3	1	2	1	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:19591263G>T	ENST00000507958.1	-	9	1892	c.902C>A	c.(901-903)gCt>gAt	p.A301D	CDH18_ENST00000274170.4_Missense_Mutation_p.A301D|CDH18_ENST00000506372.1_Missense_Mutation_p.A301D|CDH18_ENST00000502796.1_Missense_Mutation_p.A301D|CDH18_ENST00000511273.1_Missense_Mutation_p.A301D|CDH18_ENST00000382275.1_Missense_Mutation_p.A301D			Q13634	CAD18_HUMAN	cadherin 18, type 2	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A301V(4)		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)					GGTCATGTCAGCATTTGAGCC	0.423																																																	4	Substitution - Missense(4)	lung(4)											164	138	147					5																	19591263		2203	4300	6503	SO:0001583	missense	0			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.902C>A	5.37:g.19591263G>T	ENSP00000425093:p.Ala301Asp		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A301D	ENST00000507958.1	37	c.902	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893312	0.91889	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71626	0.3362	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77958	-0.2392	9	.	.	.	.	17.3872	0.87420	0.0:0.0:1.0:0.0	.	301;301	B4DHG6;Q13634	.;CAD18_HUMAN	D	301;301;301;301;301;301;247;301	ENSP00000371710:A301D;ENSP00000425093:A301D;ENSP00000274170:A301D;ENSP00000424931:A301D;ENSP00000422138:A301D;ENSP00000427383:A247D;ENSP00000425854:A301D	.	A	-	2	0	CDH18	19627020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.428000	0.82296	0.650000	0.86243	GCT	CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000145526		0.423	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1		0	41	0	G	NM_004934		19591263	-1			no_errors	ENST00000274170	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	19591263	G	T	19591263	3	4	172	1	0	0	0	0	1	0	0	0	3110	971	34	3	1498	3	CDH18	5	19591263	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09		19591263	161323997	60	43204											
NIPBL	25836	genome.wustl.edu	37	chr5	37020560	37020560	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtctaatttctttccaGttttctcgtaaattctatat	8	21	4	8	1	5	0	0	0	5	0	7	0	6	0	1	0	0	2	1	0	5	9			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:37020560G>T	ENST00000282516.8	+	26	5509		c.e26-1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.?(2)		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)			TTTCTTTCCAGTTTTCTCGTA	0.328																																																	2	Unknown(2)	kidney(2)											66	61	63					5																	37020560		2203	4297	6500	SO:0001630	splice_region_variant	0			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.5011-1G>T	5.37:g.37020560G>T			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	-	e25-1	ENST00000282516.8	37	c.5011-1	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589670	0.86851	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5885	0.95498	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37056317	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.476000	0.97823	2.647000	0.89833	0.585000	0.79938	.	NIPBL	-	-	ENSG00000164190		0.328	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1		0	59	0	G	NM_015384	Intron	37020560	1			no_errors	ENST00000282516	ensembl	human	known	74_37	splice_site	5.36	53	3	SNP	1.000	T	T	37020560	G	T	37020560	5	4	172	1	0	0	0	0	0	0	1	0	10467	1043	36	3	5108	3	NIPBL	5	37020560	Splice_Site	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	17429297	37020560	143894700	61	43205											
IL31RA	133396	genome.wustl.edu	37	chr5	55212740	55212740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtttcacctgagattcCgcccagaaaatcccaatacc	12	8	5	16	1	1	2	1	1	0	2	3	3	3	2	6	0	1	1	6	0	4	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:55212740C>T	ENST00000447346.2	+	15	2152	c.2087C>T	c.(2086-2088)cCg>cTg	p.P696L	IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.P554L|IL31RA_ENST00000359040.5_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	664					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCTGAGATTCCGCCCAGAAAA	0.507																																																	0													53	59	57					5																	55212740		2203	4300	6503	SO:0001583	missense	0			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.2087C>T	5.37:g.55212740C>T	ENSP00000415900:p.Pro696Leu		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P696L	ENST00000447346.2	37	c.2087	CCDS3970.2	5	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547938	0.27652	.	.	ENSG00000164509	ENST00000447346;ENST00000490985	T;T	0.45668	1.06;0.89	4.92	3.14	0.36123	.	2.512940	0.01216	N	0.007967	T	0.43456	0.1248	M	0.63428	1.95	0.09310	N	0.999998	B	0.26902	0.163	B	0.20384	0.029	T	0.21724	-1.0237	9	.	.	.	-0.0475	7.9857	0.30210	0.0:0.8124:0.0:0.1876	.	696	Q8NI17-2	.	L	696;554	ENSP00000415900:P696L;ENSP00000427533:P554L	.	P	+	2	0	IL31RA	55248497	0.000000	0.05858	0.004000	0.12327	0.080000	0.17528	0.125000	0.15749	0.784000	0.33661	0.563000	0.77884	CCG	IL31RA	-	NULL	ENSG00000164509		0.507	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL31RA	HGNC	protein_coding	OTTHUMT00000214148.1		0	39	0	C	NM_139017		55212740	1			no_errors	ENST00000447346	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.004	T	T	55212740	C	T	55212740	3	4	172	1	0	0	0	0	1	0	0	0	7718	652	23	1	2145	1	IL31RA	5	55212740	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	18192180	55212740	125702520	62	43206											
PIK3R1	5295	genome.wustl.edu	37	chr5	67522599	67522600	+	In_Frame_Ins	INS	-	-	AAT																															tgggtgacatattgactgtgINSaataaagggtccttagtagc																										TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:67522599_67522600insAAT	ENST00000521381.1	+	2	712_713	c.96_97insAAT	c.(97-99)aat>AATaat	p.33_33N>NN	PIK3R1_ENST00000274335.5_In_Frame_Ins_p.33_33N>NN|PIK3R1_ENST00000521657.1_In_Frame_Ins_p.33_33N>NN|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.33_33N>NN	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	33	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	TATTGACTGTGAATAAAGGGTC	0.431			"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)																																								SO:0001652	inframe_insertion	0			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.97_99dupAAT	5.37:g.67522600_67522602dupAAT	ENSP00000428056:p.Asn33dup		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Ins	INS	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.33in_frame_insN	ENST00000521381.1	37	c.96_97	CCDS3993.1	5																																																																																			PIK3R1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000145675		0.431	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2		0	89	0	-	NM_181504		67522600	1	tier1		no_errors	ENST00000396611	ensembl	human	known	74_37	in_frame_ins	28.00	36	14	INS	1.000:1.000	AAT	AAT	67522600	-	AAT	67522599	7	5	172	1	0	1	1	0	0	0	0	0	11957	1277	45	0	98	0	PIK3R1	5	67522599	In_Frame_Ins	INS	-	TCGA-VR-AA4D-01A-11D-A37C-09	12309859	67522599	113392661	63	43207											
YTHDC2	64848	genome.wustl.edu	37	chr5	112903395	112903395	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaattaaggcactgccCacagattggcttatttatga	12	11	9	9	0	0	2	0	1	0	1	0	2	0	2	1	2	2	4	1	2	4	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:112903395C>A	ENST00000161863.4	+	23	3306	c.3093C>A	c.(3091-3093)ccC>ccA	p.P1031P		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1031					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)		AGGCACTGCCCACAGATTGGC	0.358																																																	0													75	70	72					5																	112903395		2202	4300	6502	SO:0001819	synonymous_variant	0			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.3093C>A	5.37:g.112903395C>A			B2RP66	Silent	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1031	ENST00000161863.4	37	c.3093	CCDS4113.1	5																																																																																			YTHDC2	-	pfam_DUF1605	ENSG00000047188		0.358	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2		0	28	0	C	NM_022828		112903395	1			no_errors	ENST00000161863	ensembl	human	known	74_37	silent	5.88	32	2	SNP	1.000	A	A	112903395	C	A	112903395	2	1	172	1	0	0	0	0	0	0	0	1	17546	581	21	3		3	YTHDC2	5	112903395	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	45380796	112903395	68011865	64	43208											
PCDHA8	56140	genome.wustl.edu	37	chr5	140222186	140222187	+	Missense_Mutation	DNP	CG	CG	GA																															ctatgagttggtggtaaccgCgcgggacgggggctcgcctt																										TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C|G	C|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:140222186_140222187CG>GA	ENST00000531613.1	+	1	1280_1281	c.1280_1281CG>GA	c.(1279-1281)gCG>gGA	p.A427G	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A427G	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|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)			GTGGTAACCGCGCGGGACGGGG	0.634																																																	0																																										SO:0001583	missense	0			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		Exception_encountered	5.37:g.140222186_140222187delinsGA	ENSP00000434655:p.Ala427Gly		B9EGT7|O75281	Missense_Mutation|Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A427G|p.A427	ENST00000531613.1	37	c.1280|c.1281	CCDS54919.1	5																																																																																			PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204962		0.634	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2		0	46|45	0	C|G	NM_018911		140222186|140222187	1			no_errors	ENST00000531613	ensembl	human	known	74_37	missense|silent	9.52|7.94	57|58	6|5	SNP	0.951|0.003	G|A	GA	140222187	CG	GA	140222186	3	3	172	1	0	0	0	0	1	0	0	0	11569	768	27	5	1282	5	PCDHA8	5	140222186	Missense_Mutation	DNP	CG	TCGA-VR-AA4D-01A-11D-A37C-09	27318791	140222186	40693074	65	43209											
PCDHA10	56139	genome.wustl.edu	37	chr5	140236457	140236457	+	Missense_Mutation	SNP	A	A	T	1	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	ggatgaaggaataaacaaggAaatgatgtattcatttagct	17	11	10	3	0	1	2	1	2	0	0	1	5	1	5	0	3	2	2	0	3	8	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:140236457A>T	ENST00000307360.5	+	1	824	c.824A>T	c.(823-825)gAa>gTa	p.E275V	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E275V|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_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)			ATAAACAAGGAAATGATGTAT	0.368																																																	0													76	74	75					5																	140236457		2196	4271	6467	SO:0001583	missense	0			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.824A>T	5.37:g.140236457A>T	ENSP00000304234:p.Glu275Val		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E275V	ENST00000307360.5	37	c.824	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	A	12.84	2.059185	0.36373	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.51325	0.71;0.71	4.29	3.09	0.35607	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61311	0.2337	M	0.67569	2.06	0.27132	N	0.961865	P;B;D	0.63880	0.5;0.402;0.993	B;B;D	0.65443	0.2;0.128;0.935	T	0.51332	-0.8719	9	0.72032	D	0.01	.	7.5484	0.27781	0.7147:0.1457:0.0:0.1396	.	275;275;275	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	V	275	ENSP00000421030:E275V;ENSP00000304234:E275V	ENSP00000304234:E275V	E	+	2	0	PCDHA10	140216641	0.866000	0.29940	0.893000	0.35052	0.984000	0.73092	3.993000	0.56987	0.758000	0.33059	0.459000	0.35465	GAA	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.368	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	-	0	16	0	A	NM_018901		140236457	1	tier1	-	no_errors	ENST00000307360	ensembl	human	known	74_37	missense	28.00	18	7	SNP	0.983	T	T	140236457	A	T	140236457	3	4	172	1	0	0	0	0	1	0	0	0	11559	246	9	5	826	5	PCDHA10	5	140236457	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	14271	140236457	40678803	66	43210											
PCDHGA6	56109	genome.wustl.edu	37	chr5	140755355	140755355	+	Missense_Mutation	SNP	A	A	T	1	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	tcctgtaccccgccctccccAcagacggttccactggcgtg	5	8	9	19	3	0	1	0	0	0	1	3	1	3	1	7	2	1	2	7	2	1	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:140755355A>T	ENST00000517434.1	+	1	1705	c.1705A>T	c.(1705-1707)Aca>Tca	p.T569S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	569					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTCCCCACAGACGGTTC	0.662																																																	0													105	123	117					5																	140755355		2202	4300	6502	SO:0001583	missense	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1705A>T	5.37:g.140755355A>T	ENSP00000429601:p.Thr569Ser		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T569S	ENST00000517434.1	37	c.1705	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	3.802	-0.041454	0.07452	.	.	ENSG00000253731	ENST00000517434	T	0.44482	0.92	4.57	3.41	0.39046	Cadherin-like (1);	0.000000	0.31834	U	0.007000	T	0.22936	0.0554	N	0.11698	0.16	0.09310	N	0.999996	P;B	0.35600	0.511;0.377	B;B	0.37888	0.26;0.133	T	0.08166	-1.0735	10	0.45353	T	0.12	.	4.7057	0.12848	0.6072:0.1558:0.2371:0.0	.	569;569	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	S	569	ENSP00000429601:T569S	ENSP00000429601:T569S	T	+	1	0	PCDHGA6	140735539	0.000000	0.05858	0.939000	0.37840	0.365000	0.29674	0.517000	0.22832	0.901000	0.36495	0.456000	0.33151	ACA	PCDHGA6	-	superfamily_Cadherin-like	ENSG00000253731		0.662	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	-	0	126	0	A	NM_018919		140755355	1	tier1	-	no_errors	ENST00000517434	ensembl	human	known	74_37	missense	72.28	28	73	SNP	0.622	T	T	140755355	A	T	140755355	3	4	172	1	0	0	0	0	1	0	0	0	11597	159	6	5	1707	5	PCDHGA6	5	140755355	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	518898	140755355	40159905	67	43211											
CSF1R	1436	genome.wustl.edu	37	chr5	149459879	149459879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gaccacctcctgtgctagcaCgttccagggccgggcagggt	6	7	14	14	2	0	0	0	0	0	0	2	1	2	0	5	3	2	4	5	3	1	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:149459879C>T	ENST00000286301.3	-	4	619	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	CSF1R_ENST00000543093.1_Missense_Mutation_p.V110M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	110	Ig-like C2-type 2.				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)	TGTGCTAGCACGTTCCAGGGC	0.617																																																	0													42	40	40					5																	149459879		2203	4300	6503	SO:0001583	missense	0			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.328G>A	5.37:g.149459879C>T	ENSP00000286301:p.Val110Met		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V110M	ENST00000286301.3	37	c.328	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881625	0.33255	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.78126	-1.15;1.2	4.92	-5.39	0.02664	Immunoglobulin-like fold (1);	1.066390	0.07412	N	0.892472	T	0.76140	0.3946	L	0.60455	1.87	0.09310	N	1	D;D;D	0.71674	0.998;0.997;0.982	P;P;P	0.56648	0.685;0.803;0.509	T	0.66316	-0.5954	10	0.34782	T	0.22	.	2.8207	0.05470	0.3369:0.2162:0.3544:0.0926	.	110;110;110	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	M	110	ENSP00000286301:V110M;ENSP00000445282:V110M	ENSP00000286301:V110M	V	-	1	0	CSF1R	149440072	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.002000	0.03686	-1.746000	0.01335	-0.314000	0.08810	GTG	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000182578		0.617	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	-	0	17	0	C	NM_005211		149459879	-1	tier1	-	no_errors	ENST00000286301	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.000	T	T	149459879	C	T	149459879	3	4	172	1	0	0	0	0	1	0	0	0	3941	536	19	1	2666	1	CSF1R	5	149459879	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	8704524	149459879	31455381	68	43212											
HAVCR2	84868	genome.wustl.edu	37	chr5	156535950	156535950	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttacttgtaagtagtagCagcagcagcagcaggacaca	14	7	11	9	0	0	0	0	0	0	0	0	2	0	1	0	1	6	8	0	1	4	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr5:156535950C>T	ENST00000307851.4	-	1	775	c.45G>A	c.(43-45)ctG>ctA	p.L15L	HAVCR2_ENST00000522593.1_Silent_p.L15L|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'Flank	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAGTAGTAGCAGCAGCAGCA	0.443																																																	2	Substitution - coding silent(1)|Deletion - In frame(1)	large_intestine(2)											135	120	126					5																	156535950		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"Immunoglobulin superfamily / V-set domain containing"	18437	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 3"	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.45G>A	5.37:g.156535950C>T			B2RAY2|Q8WW60|Q96K94	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.L15	ENST00000307851.4	37	c.45	CCDS4333.1	5																																																																																			HAVCR2	-	pfscan_Ig-like_dom	ENSG00000135077		0.443	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR2	HGNC	protein_coding	OTTHUMT00000252574.2	-	0	78	0	C			156535950	-1	tier1	-	no_errors	ENST00000307851	ensembl	human	known	74_37	silent	7.14	78	6	SNP	0.091	T	T	156535950	C	T	156535950	2	4	172	1	0	0	0	0	0	0	0	1	7001	697	25	3		3	HAVCR2	5	156535950	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	7076071	156535950	24379310	69	43213											
JARID2	3720	genome.wustl.edu	37	chr6	15513490	15513490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatacagagctgcggcagcGcaggcagctgttcgaggctg	8	6	17	10	3	0	1	0	0	0	1	1	3	0	2	0	4	5	7	0	4	1	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:15513490G>A	ENST00000341776.2	+	16	3531	c.3287G>A	c.(3286-3288)cGc>cAc	p.R1096H	JARID2_ENST00000397311.3_Missense_Mutation_p.R924H	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1096					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)				CTGCGGCAGCGCAGGCAGCTG	0.652																																																	0													17	16	16					6																	15513490		2172	4244	6416	SO:0001583	missense	0			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.3287G>A	6.37:g.15513490G>A	ENSP00000341280:p.Arg1096His		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.R1096H	ENST00000341776.2	37	c.3287	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.260351	0.95368	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	D;D	0.88741	-2.42;-2.41	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.85410	0.5690	L	0.32530	0.975	0.80722	D	1	D	0.55385	0.971	P	0.51266	0.664	D	0.88211	0.2890	10	0.87932	D	0	-12.2458	17.2807	0.87127	0.0:0.0:1.0:0.0	.	1096	Q92833	JARD2_HUMAN	H	1096;924	ENSP00000341280:R1096H;ENSP00000380478:R924H	ENSP00000341280:R1096H	R	+	2	0	JARID2	15621469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.433000	0.97501	2.140000	0.66376	0.462000	0.41574	CGC	JARID2	-	NULL	ENSG00000008083		0.652	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1		0	34	0	G	NM_004973		15513490	1			no_errors	ENST00000341776	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	A	A	15513490	G	A	15513490	3	1	172	1	0	0	0	0	1	0	0	0	7972	1087	38	1	3349	1	JARID2	6	15513490	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09		15513490	155601577	70	43214											
BTN3A2	11118	genome.wustl.edu	37	chr6	26368912	26368912	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatggagctgaagtgggtaAgttccagcctaaggcaggtg	10	8	15	8	0	0	1	0	1	0	0	1	2	1	2	3	4	2	4	3	4	3	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:26368912A>C	ENST00000356386.2	+	4	393	c.205A>C	c.(205-207)Agt>Cgt	p.S69R	BTN3A2_ENST00000377708.2_Missense_Mutation_p.S69R|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000396934.3_Missense_Mutation_p.S46R|BTN3A2_ENST00000527422.1_Missense_Mutation_p.S69R|BTN3A2_ENST00000508906.2_Missense_Mutation_p.S27R|BTN3A2_ENST00000396948.1_Missense_Mutation_p.S69R	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	69	Ig-like V-type.				interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GAAGTGGGTAAGTTCCAGCCT	0.567																																																	0													458	328	372					6																	26368912		2202	4298	6500	SO:0001583	missense	0			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.205A>C	6.37:g.26368912A>C	ENSP00000348751:p.Ser69Arg		B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S69R	ENST00000356386.2	37	c.205	CCDS4605.1	6	.	.	.	.	.	.	.	.	.	.	a	0.038	-1.296708	0.01364	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000527417;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	3.17	-2.19	0.07015	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02571	0.0078	N	0.00013	-2.945	0.09310	N	1	B;B	0.16802	0.005;0.019	B;B	0.14578	0.007;0.011	T	0.48317	-0.9046	9	0.02654	T	1	.	10.2576	0.43408	0.7483:0.2517:0.0:0.0	.	46;69	F8W6E0;P78410	.;BT3A2_HUMAN	R	27;27;69;69;69;69;46;69;69;27	ENSP00000435952:S27R;ENSP00000434102:S27R;ENSP00000433749:S69R;ENSP00000432138:S69R;ENSP00000348751:S69R;ENSP00000380140:S46R;ENSP00000366937:S69R;ENSP00000380152:S69R;ENSP00000442687:S27R	ENSP00000348751:S69R	S	+	1	0	BTN3A2	26476891	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-3.220000	0.00552	-0.226000	0.09899	0.333000	0.21579	AGT	BTN3A2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000186470		0.567	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A2	HGNC	protein_coding	OTTHUMT00000040113.2	-	0	142	0	A			26368912	1	tier1	-	no_errors	ENST00000356386	ensembl	human	known	74_37	missense	14.96	108	19	SNP	0.000	C	C	26368912	A	C	26368912	3	2	172	1	0	0	0	0	1	0	0	0	1567	72	3	4	211	4	BTN3A2	6	26368912	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	10855422	26368912	144746155	71	43215											
BTN3A1	11119	genome.wustl.edu	37	chr6	26406256	26406256	+	Missense_Mutation	SNP	A	A	C	1	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	ccatggagctgaagtgggtgAgttccagcctaaggcaggtg	9	8	16	8	0	0	2	0	2	0	0	1	3	1	3	3	4	2	3	3	4	2	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:26406256A>C	ENST00000289361.6	+	3	573	c.205A>C	c.(205-207)Agt>Cgt	p.S69R	BTN3A1_ENST00000414912.2_Missense_Mutation_p.S69R|BTN3A1_ENST00000476549.2_Missense_Mutation_p.S69R|BTN3A1_ENST00000425234.2_Missense_Mutation_p.S69R	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	69	Ig-like V-type 1.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GAAGTGGGTGAGTTCCAGCCT	0.572																																																	0													91	148	129					6																	26406256		2201	4298	6499	SO:0001583	missense	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.205A>C	6.37:g.26406256A>C	ENSP00000289361:p.Ser69Arg		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.S69R	ENST00000289361.6	37	c.205	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	1.234	-0.623357	0.03636	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000450085;ENST00000425234;ENST00000506698;ENST00000414912	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;4.56;0.21	2.06	-2.19	0.07015	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02119	0.0066	N	0.00013	-2.945	0.09310	N	1	B;B;B;B	0.15930	0.005;0.005;0.015;0.005	B;B;B;B	0.15052	0.008;0.012;0.007;0.008	T	0.40365	-0.9567	9	0.02654	T	1	.	5.4159	0.16374	0.5865:0.2559:0.1577:0.0	.	69;69;69;69	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	R	69	ENSP00000420010:S69R;ENSP00000289361:S69R;ENSP00000394937:S69R;ENSP00000396684:S69R;ENSP00000427013:S69R;ENSP00000406667:S69R	ENSP00000289361:S69R	S	+	1	0	BTN3A1	26514235	0.000000	0.05858	0.000000	0.03702	0.731000	0.41821	-0.717000	0.04986	-0.481000	0.06792	0.454000	0.30748	AGT	BTN3A1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000026950		0.572	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3		0	42	0	A			26406256	1			no_errors	ENST00000289361	ensembl	human	known	74_37	missense	53.33	14	16	SNP	0.000	C	C	26406256	A	C	26406256	3	2	172	1	0	0	0	0	1	0	0	0	1566	304	11	4	211	4	BTN3A1	6	26406256	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	37344	26406256	144708811	72	43216											
MDC1	9656	genome.wustl.edu	37	chr6	30675997	30675997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctctggatgttggtctcCtggtattgccctaggtggag	4	14	14	9	0	2	0	0	0	2	0	4	2	2	2	2	5	1	3	2	5	2	4	rs148637924	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:30675997C>T	ENST00000376406.3	-	8	3006	c.2359G>A	c.(2359-2361)Gga>Aga	p.G787R	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	787				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGTTGGTCTCCTGGTATTGCC	0.527								Other conserved DNA damage response genes					c|||	2	0.000399361	0	0	5008	,	,		20347	0		0.001	False		,,,				2504	0.001																0									ARG/GLY	0,3020		0,0,1510	182	174	177		2359	-3.4	0	6	dbSNP_134	177	10,5408		0,10,2699	yes	missense	MDC1	NM_014641.2	125	0,10,4209	TT,TC,CC		0.1846,0.0,0.1185	possibly-damaging	787/2090	30675997	10,8428	1510	2709	4219	SO:0001583	missense	0			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.2359G>A	6.37:g.30675997C>T	ENSP00000365588:p.Gly787Arg		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.G787R	ENST00000376406.3	37	c.2359	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	c	12.62	1.992968	0.35131	0.0	0.001846	ENSG00000137337	ENST00000376406;ENST00000429610	T	0.02890	4.12	4.66	-3.41	0.04839	.	.	.	.	.	T	0.00875	0.0029	L	0.43152	1.355	0.09310	N	1	P	0.39480	0.675	B	0.37304	0.246	T	0.45352	-0.9267	9	0.36615	T	0.2	9.274	5.4074	0.16328	0.1711:0.5551:0.1664:0.1073	.	787	Q14676	MDC1_HUMAN	R	787	ENSP00000365588:G787R	ENSP00000365588:G787R	G	-	1	0	MDC1	30783976	0.000000	0.05858	0.000000	0.03702	0.751000	0.42716	0.016000	0.13377	-0.404000	0.07610	-0.516000	0.04426	GGA	MDC1	-	NULL	ENSG00000137337		0.527	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	-	0	100	0	C	NM_014641		30675997	-1	tier1	rs148637924	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	48.54	52	50	SNP	0.000	T	T	30675997	C	T	30675997	3	4	172	1	0	0	0	0	1	0	0	0	9441	690	24	3	3942	3	MDC1	6	30675997	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	4269741	30675997	140439070	73	43217											
HLA-DRB5	3127	genome.wustl.edu	37	chr6	32487265	32487265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaaggtccagtctccattCtgaatcaggcctgtggacac	9	10	11	11	0	3	1	1	1	2	0	5	3	4	3	3	4	0	0	3	4	2	1	rs139485758	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	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	0				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	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Q178H	ENST00000374975.3	37	c.534	CCDS4751.1	6	.	.	.	.	.	.	.	.	.	.	.	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	HLA-DRB5	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000198502		0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	-	0	15	0	C	NM_002125		32487265	-1	tier1	rs139485758	no_errors	ENST00000374975	ensembl	human	known	74_37	missense	31.25	11	5	SNP	0.000	G	G	32487265	C	G	32487265	3	3	172	1	0	0	0	0	1	0	0	0	7236	912	32	5	282	5	HLA-DRB5	6	32487265	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	1811268	32487265	138627802	74	43218											
LRFN2	57497	genome.wustl.edu	37	chr6	40400534	40400534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagccgattgctgtcaaGatgcagggagcggaggctct	8	8	16	9	2	2	1	1	0	1	1	2	4	2	3	1	4	4	4	1	4	1	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:40400534G>T	ENST00000338305.6	-	2	861	c.319C>A	c.(319-321)Ctt>Att	p.L107I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	107						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)					TTGCTGTCAAGATGCAGGGAG	0.612																																																	0													56	44	48					6																	40400534		2203	4300	6503	SO:0001583	missense	0			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.319C>A	6.37:g.40400534G>T	ENSP00000345985:p.Leu107Ile		A5PKU3|Q5SYP9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L107I	ENST00000338305.6	37	c.319	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972404	0.53614	.	.	ENSG00000156564	ENST00000338305	T	0.08458	3.09	5.76	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	M	0.86343	2.81	0.47905	D	0.999541	D	0.76494	0.999	D	0.74674	0.984	T	0.00516	-1.1694	10	0.36615	T	0.2	.	10.7721	0.46330	0.161:0.0:0.839:0.0	.	107	Q9ULH4	LRFN2_HUMAN	I	107	ENSP00000345985:L107I	ENSP00000345985:L107I	L	-	1	0	LRFN2	40508512	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	2.005000	0.40864	2.736000	0.93811	0.655000	0.94253	CTT	LRFN2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000156564		0.612	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1		0	33	0	G	XM_166372		40400534	-1			no_errors	ENST00000338305	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	40400534	G	T	40400534	3	4	172	1	0	0	0	0	1	0	0	0	8973	942	33	3	2058	3	LRFN2	6	40400534	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	7913269	40400534	130714533	75	43219											
DST	667	genome.wustl.edu	37	chr6	56420335	56420335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccaactgttggttcatagCatcagggtgcgtgctcacag	8	12	11	10	1	3	0	3	0	0	0	4	0	4	0	1	2	4	4	1	2	2	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:56420335C>T	ENST00000361203.3	-	56	14318	c.14311G>A	c.(14311-14313)Gct>Act	p.A4771T	DST_ENST00000244364.6_Missense_Mutation_p.A2359T|DST_ENST00000370769.4_Missense_Mutation_p.A4773T|DST_ENST00000421834.2_Missense_Mutation_p.A2685T|DST_ENST00000370754.5_Missense_Mutation_p.A4951T|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.A2685T|DST_ENST00000446842.2_Missense_Mutation_p.A4447T			Q03001	DYST_HUMAN	dystonin	4771					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)			TGGTTCATAGCATCAGGGTGC	0.463																																																	0													127	124	125					6																	56420335		1913	4142	6055	SO:0001583	missense	0			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.14311G>A	6.37:g.56420335C>T	ENSP00000354508:p.Ala4771Thr		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A4951T	ENST00000361203.3	37	c.14851		6	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705418	0.68615	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.48522	1.06;1.36;1.36;1.36;0.81;1.36;1.36	5.96	5.96	0.96718	.	0.000000	0.53938	D	0.000046	T	0.61689	0.2367	M	0.73962	2.25	0.26641	N	0.972287	D;D;D;P;D	0.89917	0.998;1.0;1.0;0.914;0.999	D;D;D;B;D	0.85130	0.992;0.99;0.997;0.355;0.979	T	0.52660	-0.8546	9	0.15066	T	0.55	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	2685;4773;4951;4771;2359	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	2359;4951;4773;2685;4447;2685;4771	ENSP00000244364:A2359T;ENSP00000359790:A4951T;ENSP00000359805:A4773T;ENSP00000400883:A2685T;ENSP00000393645:A4447T;ENSP00000359824:A2685T;ENSP00000354508:A4771T	ENSP00000244364:A2359T	A	-	1	0	DST	56528294	1.000000	0.71417	0.123000	0.21794	0.469000	0.32828	7.792000	0.85828	2.823000	0.97156	0.650000	0.86243	GCT	DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.463	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0	36	0	C	NM_001723		56420335	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	56420335	C	T	56420335	3	4	172	1	0	0	0	0	1	0	0	0	4797	710	25	3	8616	3	DST	6	56420335	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	16019801	56420335	114694732	76	43220											
COX7A2	1347	genome.wustl.edu	37	chr6	75953544	75953544	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctccgagtcttgcgtatgCattcacgaacttaaatcttt	10	14	6	11	3	3	0	1	0	2	0	4	2	4	0	2	0	3	2	2	0	4	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:75953544C>T	ENST00000230459.4	-	0	100				COX7A2_ENST00000460985.1_5'Flank|COX7A2_ENST00000472311.2_5'Flank|COX7A2_ENST00000370089.2_Start_Codon_SNP_p.M1I|COX7A2_ENST00000370081.2_Start_Codon_SNP_p.M1I|COX7A2_ENST00000509698.1_5'Flank	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			kidney(2)|lung(1)	3						CTTGCGTATGCATTCACGAAC	0.527																																																	0													94	103	100					6																	75953544		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.-94G>A	6.37:g.75953544C>T			B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a	p.M1I	ENST00000230459.4	37	c.3		6	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086471	0.36855	.	.	ENSG00000112695	ENST00000370081;ENST00000370089	T;T	0.42131	0.98;0.98	4.62	2.78	0.32641	.	0.492896	0.15189	N	0.275696	T	0.24353	0.0590	.	.	.	0.26853	N	0.968124	.	.	.	.	.	.	T	0.16719	-1.0393	7	0.87932	D	0	.	6.2052	0.20598	0.1837:0.7175:0.0:0.0988	.	.	.	.	I	1	ENSP00000359098:M1I;ENSP00000359106:M1I	ENSP00000359098:M1I	M	-	3	0	COX7A2	76010264	.	.	0.025000	0.17156	0.036000	0.12997	.	.	0.600000	0.29862	0.561000	0.74099	ATG	COX7A2	-	NULL	ENSG00000112695		0.527	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	COX7A2	HGNC	protein_coding		-	0	61	0	C	NM_001865		75953544	-1	tier1	-	no_errors	ENST00000370081	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.079	T	T	75953544	C	T	75953544	1	4	172	0	1	0	0	0	0	0	0	0	3787	710	25	3		3	COX7A2	6	75953544	5'UTR	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	19533209	75953544	95161523	77	43221											
SASH1	23328	genome.wustl.edu	37	chr6	148792635	148792635	+	Silent	SNP	A	A	C	1	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	ggaataatgagacagacttcAaaaggtactgcaatgcagct	16	8	10	7	0	1	2	1	1	0	2	1	4	1	3	0	2	4	4	0	2	6	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:148792635A>C	ENST00000367467.3	+	6	985	c.510A>C	c.(508-510)tcA>tcC	p.S170S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	170					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GACAGACTTCAAAAGGTACTG	0.388																																																	0													58	56	57					6																	148792635		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.510A>C	6.37:g.148792635A>C			Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.S170	ENST00000367467.3	37	c.510	CCDS5212.1	6																																																																																			SASH1	-	NULL	ENSG00000111961		0.388	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	-	0	73	0	A	NM_015278		148792635	1	tier1	-	no_errors	ENST00000367467	ensembl	human	known	74_37	silent	32.86	47	23	SNP	0.999	C	C	148792635	A	C	148792635	2	2	172	1	0	0	0	0	0	0	0	1	13893	117	5	4		4	SASH1	6	148792635	Silent	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	72839091	148792635	22322432	78	43222											
IGF2R	3482	genome.wustl.edu	37	chr6	160523575	160523575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgacagcgagaatccCggggacgacgggcagatgca	10	5	16	10	4	0	3	0	1	0	2	1	6	1	4	1	4	2	3	1	4	1	1	rs149900660	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:160523575C>T	ENST00000356956.1	+	46	7015	c.6867C>T	c.(6865-6867)ccC>ccT	p.P2289P	IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2289					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)	GCGAGAATCCCGGGGACGACG	0.647													T|||	2	0.000399361	0	0	5008	,	,		18079	0		0	False		,,,				2504	0.002																0								T		1,4405	794.7+/-415.3	0,1,2202	57	52	54		6867	-10.9	0	6	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous	IGF2R	NM_000876.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2289/2492	160523575	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.6867C>T	6.37:g.160523575C>T			Q7Z7G9|Q96PT5	Silent	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.P2289	ENST00000356956.1	37	c.6867	CCDS5273.1	6																																																																																			IGF2R	-	NULL	ENSG00000197081		0.647	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0	55	0	C	NM_000876		160523575	1	tier1	rs149900660	no_errors	ENST00000356956	ensembl	human	known	74_37	silent	40.38	31	21	SNP	0.007	T	T	160523575	C	T	160523575	2	4	172	1	0	0	0	0	0	0	0	1	7603	639	23	1		1	IGF2R	6	160523575	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	11730940	160523575	10591492	79	43223											
SLC22A2	6582	genome.wustl.edu	37	chr6	160677677	160677677	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccgatactcatagagcCaataaagaatcctacattca	16	9	6	10	1	2	2	2	0	0	2	3	3	3	2	3	0	4	1	3	0	8	6			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr6:160677677C>G	ENST00000366953.3	-	2	745	c.487G>C	c.(487-489)Ggc>Cgc	p.G163R	SLC22A2_ENST00000491092.1_Intron|SLC22A2_ENST00000366952.1_Missense_Mutation_p.G142R	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	163					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.G163C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CTCATAGAGCCAATAAAGAAT	0.458																																																	1	Substitution - Missense(1)	lung(1)											128	120	123					6																	160677677		2203	4300	6503	SO:0001583	missense	0			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.487G>C	6.37:g.160677677C>G	ENSP00000355920:p.Gly163Arg		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G163R	ENST00000366953.3	37	c.487	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566374	0.65651	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	D;D	0.89810	-2.57;-2.57	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.055499	0.64402	D	0.000001	D	0.97244	0.9099	H	0.99011	4.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.995	D	0.98380	1.0558	10	0.87932	D	0	.	20.0608	0.97674	0.0:1.0:0.0:0.0	.	163;163;163	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	R	163;142	ENSP00000355920:G163R;ENSP00000355919:G142R	ENSP00000355919:G142R	G	-	1	0	SLC22A2	160597667	1.000000	0.71417	0.495000	0.27527	0.024000	0.10985	7.390000	0.79816	2.733000	0.93635	0.650000	0.86243	GGC	SLC22A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000112499		0.458	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1		0	48	0	C	NM_003058		160677677	-1			no_errors	ENST00000366953	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.990	G	G	160677677	C	G	160677677	3	3	172	1	0	0	0	0	1	0	0	0	14495	594	21	5	1220	5	SLC22A2	6	160677677	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	154102	160677677	10437390	80	43224											
POLD2	5425	genome.wustl.edu	37	chr7	44155474	44155474	+	Silent	SNP	T	T	A	0	1	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	aaaatgtcactcacgttctgTcctgatgtccccaaaaatct	12	12	5	12	1	4	1	2	1	2	0	6	1	6	1	3	0	0	1	3	0	4	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:44155474T>A	ENST00000406581.2	-	10	1687	c.1038A>T	c.(1036-1038)ggA>ggT	p.G346G	POLD2_ENST00000223361.3_Silent_p.G346G|POLD2_ENST00000452185.1_Silent_p.G346G	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	346					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						TCACGTTCTGTCCTGATGTCC	0.567																																																	0													172	155	160					7																	44155474		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1038A>T	7.37:g.44155474T>A			A4D2J4|B2R5S4	Silent	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.G346	ENST00000406581.2	37	c.1038	CCDS5477.1	7																																																																																			POLD2	-	pfam_DNA_pol_alpha/epsilon_bsu	ENSG00000106628		0.567	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	HGNC	protein_coding	OTTHUMT00000250994.2	-	0	41	0	T	NM_001127218		44155474	-1	tier1	-	no_errors	ENST00000406581	ensembl	human	known	74_37	silent	47.62	22	20	SNP	0.954	A	A	44155474	T	A	44155474	2	1	172	1	0	0	0	0	0	0	0	1	12230	1654	58	5		5	POLD2	7	44155474	Silent	SNP	T	TCGA-VR-AA4D-01A-11D-A37C-09		44155474	114983189	81	43225											
TPST1	8460	genome.wustl.edu	37	chr7	65705856	65705856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactagaaattatcgttaaGcatggggagccagcccctta	12	11	9	9	1	0	1	0	0	0	1	1	2	0	2	3	2	4	2	3	2	6	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:65705856G>A	ENST00000304842.5	+	2	869	c.444G>A	c.(442-444)aaG>aaA	p.K148K	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	148					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTATCGTTAAGCATGGGGAGC	0.428																																																	0													74	73	73					7																	65705856		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"Sulfotransferases, membrane-bound"	12020	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog A (Drosophila)"	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.444G>A	7.37:g.65705856G>A			A4D2M0|Q6FGM7	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.K148	ENST00000304842.5	37	c.444	CCDS5533.1	7																																																																																			TPST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000169902		0.428	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST1	HGNC	protein_coding	OTTHUMT00000251705.2		0	35	0	G	NM_003596		65705856	1			no_errors	ENST00000304842	ensembl	human	known	74_37	silent	6.90	27	2	SNP	1.000	A	A	65705856	G	A	65705856	2	1	172	1	0	0	0	0	0	0	0	1	16475	962	34	3		3	TPST1	7	65705856	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	21550382	65705856	93432807	82	43226											
BAZ1B	9031	genome.wustl.edu	37	chr7	72873971	72873971	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgggagccatgaagccttgGagaaatttctttatgacact	11	13	10	7	0	1	3	0	2	1	1	1	5	1	4	2	2	2	0	2	2	3	5	rs369382171		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:72873971G>A	ENST00000339594.4	-	13	3665	c.3327C>T	c.(3325-3327)ctC>ctT	p.L1109L	BAZ1B_ENST00000404251.1_Silent_p.L1109L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1109					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)	p.L1109L(1)		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)				TGAAGCCTTGGAGAAATTTCT	0.393																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												1	Substitution - coding silent(1)	lung(1)						G		0,4406		0,0,2203	133	128	130		3327	-5.7	0.3	7		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BAZ1B	NM_032408.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1109/1484	72873971	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.3327C>T	7.37:g.72873971G>A			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L1109	ENST00000339594.4	37	c.3327	CCDS5549.1	7																																																																																			BAZ1B	-	superfamily_ARM-type_fold	ENSG00000009954		0.393	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	-	0	43	0	G	NM_032408		72873971	-1	tier1	-	no_errors	ENST00000339594	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.406	A	A	72873971	G	A	72873971	2	1	172	1	0	0	0	0	0	0	0	1	1331	1161	41	3		3	BAZ1B	7	72873971	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	7168115	72873971	86264692	83	43227											
SAMD9L	219285	genome.wustl.edu	37	chr7	92762790	92762791	+	Frame_Shift_Ins	INS	-	-	T																															gtttaagataattaccaatgINSttttttcatatcgcaaatcc																										TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:92762790_92762791insT	ENST00000318238.4	-	5	3710_3711	c.2494_2495insA	c.(2494-2496)acafs	p.T832fs	SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.T832fs|SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.T832fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	832					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTACCAATGTTTTTTCATAT	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2495dupA	7.37:g.92762796_92762796dupT	ENSP00000326247:p.Thr832fs		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Ins	INS	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.T832fs	ENST00000318238.4	37	c.2495_2494	CCDS34681.1	7																																																																																			SAMD9L	-	superfamily_P-loop_NTPase	ENSG00000177409		0.361	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1		0	57	0	-	NM_152703		92762791	-1	tier1		no_errors	ENST00000318238	ensembl	human	known	74_37	frame_shift_ins	32.86	47	23	INS	0.170:0.145	T	T	92762791	-	T	92762790	7	5	172	1	0	1	1	0	0	0	0	0	13872	1377	48	0	2263	0	SAMD9L	7	92762790	Frame_Shift_Ins	INS	-	TCGA-VR-AA4D-01A-11D-A37C-09	19888819	92762790	66375873	84	43228											
BRI3	55971	genome.wustl.edu	37	chr7	97920515	97920515	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttgctgttttgccttgaGgaagcgacgatgccccaact	8	12	10	11	2	0	1	0	1	0	0	0	4	0	2	3	1	5	2	3	1	2	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:97920515G>C	ENST00000005260.8	-	0	3622				BRI3_ENST00000297290.3_Missense_Mutation_p.R113T|BRI3_ENST00000539286.1_Intron|BRI3_ENST00000473967.1_3'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1						filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTTGCCTTGAGGAAGCGACGA	0.537																																																	0													160	112	128					7																	97920515		2203	4300	6503	SO:0001628	intergenic_variant	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117		7.37:g.97920515G>C			A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	pfam_Brain_I3	p.R113T	ENST00000005260.8	37	c.338	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864826	0.51482	.	.	ENSG00000164713	ENST00000297290	T	0.48201	0.82	5.51	3.72	0.42706	.	0.202993	0.38381	N	0.001711	T	0.57961	0.2089	L	0.43152	1.355	0.58432	D	0.999999	D	0.76494	0.999	D	0.72982	0.979	T	0.58306	-0.7659	10	0.72032	D	0.01	-13.4392	11.091	0.48115	0.1444:0.0:0.8556:0.0	.	113	O95415	BRI3_HUMAN	T	113	ENSP00000297290:R113T	ENSP00000297290:R113T	R	+	2	0	BRI3	97758451	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.703000	0.68340	0.707000	0.31934	0.655000	0.94253	AGG	BRI3	-	pfam_Brain_I3	ENSG00000164713		0.537	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3	HGNC	protein_coding	OTTHUMT00000334681.1	-	0	44	0	G	NM_018842		97920515	1	tier1	-	no_errors	ENST00000297290	ensembl	human	known	74_37	missense	47.46	31	28	SNP	1.000	C	C	97920515	G	C	97920515	1	2	172	0	1	0	0	0	0	0	0	0	1516	1000	35	5		5	BRI3	7	97920515	IGR	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	5157725	97920515	61218148	85	43229											
LRRC17	10234	genome.wustl.edu	37	chr7	102575006	102575006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagttgtgtaatgaagaaGaaaaggaacaattggacccg	18	7	11	5	1	0	3	0	1	0	2	0	5	0	5	1	2	2	2	1	2	8	3	rs80100722		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:102575006G>A	ENST00000339431.4	+	2	941	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.E216K|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	216					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						TAATGAAGAAGAAAAGGAACA	0.433																																																	0													38	39	39					7																	102575006		2157	4282	6439	SO:0001583	missense	0			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.646G>A	7.37:g.102575006G>A	ENSP00000344242:p.Glu216Lys		Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E216K	ENST00000339431.4	37	c.646	CCDS34721.1	7	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553100	0.45487	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.63096	0.27;-0.02	5.28	4.33	0.51752	.	0.223034	0.31031	N	0.008387	T	0.50069	0.1594	L	0.55481	1.735	0.09310	N	1	B;B	0.28933	0.146;0.228	B;B	0.30855	0.038;0.121	T	0.41574	-0.9501	10	0.05959	T	0.93	-21.2297	9.2511	0.37555	0.0765:0.1469:0.7766:0.0	.	216;216	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	K	216	ENSP00000344242:E216K;ENSP00000249377:E216K	ENSP00000249377:E216K	E	+	1	0	LRRC17	102362242	0.526000	0.26298	0.605000	0.28930	0.985000	0.73830	1.553000	0.36255	2.617000	0.88574	0.563000	0.77884	GAA	LRRC17	-	NULL	ENSG00000128606		0.433	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC17	HGNC	protein_coding	OTTHUMT00000347930.1		0	71	0	G	NM_005824		102575006	1			no_errors	ENST00000339431	ensembl	human	known	74_37	missense	7.61	85	7	SNP	0.059	A	A	102575006	G	A	102575006	3	1	172	1	0	0	0	0	1	0	0	0	9008	943	33	3	648	3	LRRC17	7	102575006	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	4654491	102575006	56563657	86	43230											
RELN	5649	genome.wustl.edu	37	chr7	103138602	103138602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatagagtgcagtgtcctcgGcaagaattccacactcagtg	12	9	10	10	1	1	2	1	0	0	2	4	2	3	2	2	1	1	2	2	1	4	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:103138602G>A	ENST00000428762.1	-	54	8924	c.8765C>T	c.(8764-8766)gCc>gTc	p.A2922V	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.A2922V|RELN_ENST00000424685.2_Missense_Mutation_p.A2922V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2922					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)		AGTGTCCTCGGCAAGAATTCC	0.433																																					NSCLC(146;835 1944 15585 22231 52158)												0													133	121	125					7																	103138602		2203	4300	6503	SO:0001583	missense	0				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.8765C>T	7.37:g.103138602G>A	ENSP00000392423:p.Ala2922Val		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.A2922V	ENST00000428762.1	37	c.8765	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319665	0.60524	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.23552	1.9;1.9;1.9	5.89	5.89	0.94794	Neuraminidase (2);	0.052829	0.85682	D	0.000000	T	0.39911	0.1096	L	0.35341	1.055	0.51482	D	0.99992	B;D	0.62365	0.04;0.991	B;P	0.61132	0.034;0.884	T	0.02398	-1.1165	10	0.40728	T	0.16	.	20.2617	0.98447	0.0:0.0:1.0:0.0	.	2922;2922	P78509-2;P78509	.;RELN_HUMAN	V	2922;2922;2922;439;2922	ENSP00000392423:A2922V;ENSP00000345694:A2922V;ENSP00000388446:A2922V	ENSP00000345694:A2922V	A	-	2	0	RELN	102925838	1.000000	0.71417	0.961000	0.40146	0.901000	0.52897	6.660000	0.74417	2.793000	0.96121	0.655000	0.94253	GCC	RELN	-	superfamily_Sialidases	ENSG00000189056		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	53	0	G	NM_005045		103138602	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.997	A	A	103138602	G	A	103138602	3	1	172	1	0	0	0	0	1	0	0	0	13265	1203	42	3	1665	3	RELN	7	103138602	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	563596	103138602	56000061	87	43231											
LRRN3	54674	genome.wustl.edu	37	chr7	110762973	110762973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacccagatccatttatatgGaagcatctacagtggattgt	12	12	8	9	0	1	1	0	0	1	1	2	3	2	3	2	2	2	1	2	2	4	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:110762973G>A	ENST00000422987.3	+	2	976	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.E49K|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.E49K|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	49	LRRNT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CATTTATATGGAAGCATCTAC	0.393																																																	0													151	138	143					7																	110762973		2203	4300	6503	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.145G>A	7.37:g.110762973G>A	ENSP00000412417:p.Glu49Lys		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E49K	ENST00000422987.3	37	c.145	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832970	0.91036	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.98	5.98	0.97165	Leucine-rich repeat-containing N-terminal (2);	0.096544	0.44688	D	0.000431	T	0.50990	0.1648	M	0.79258	2.445	0.80722	D	1	D	0.53151	0.958	P	0.56916	0.809	T	0.49173	-0.8967	10	0.62326	D	0.03	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	49	Q9H3W5	LRRN3_HUMAN	K	49	ENSP00000312001:E49K;ENSP00000397312:E49K;ENSP00000412417:E49K;ENSP00000407927:E49K	ENSP00000312001:E49K	E	+	1	0	LRRN3	110550209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	GAA	LRRN3	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000173114		0.393	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	-	0	43	0	G	NM_018334		110762973	1	tier1	-	no_errors	ENST00000308478	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	110762973	G	A	110762973	3	1	172	1	0	0	0	0	1	0	0	0	9071	1175	41	3	147	3	LRRN3	7	110762973	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	7624371	110762973	48375690	88	43232											
DOCK4	9732	genome.wustl.edu	37	chr7	111381677	111381677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacacgagggcttccattaGgaaaatggacaggactggct	13	7	12	9	1	0	0	0	0	0	0	1	4	1	3	1	5	0	2	1	5	3	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr7:111381677G>T	ENST00000437633.1	-	45	5067	c.4811C>A	c.(4810-4812)cCt>cAt	p.P1604H	DOCK4_ENST00000428084.1_Missense_Mutation_p.P1613H|DOCK4_ENST00000494651.2_Missense_Mutation_p.P487H	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1604					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)				GCTTCCATTAGGAAAATGGAC	0.418																																																	0													64	61	62					7																	111381677		1886	4121	6007	SO:0001583	missense	0				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.4811C>A	7.37:g.111381677G>T	ENSP00000404179:p.Pro1604His		O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.P1613H	ENST00000437633.1	37	c.4838	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.962079|3.962079	0.74016|0.74016	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.06528	.|4.04;3.29;4.04	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.160011	.|0.56097	.|D	.|0.000028	T|T	0.06917|0.06917	0.0176|0.0176	N|N	0.08118|0.08118	0|0	0.40796|0.40796	D|D	0.983299|0.983299	.|P;P;P;P;P	.|0.47762	.|0.694;0.824;0.9;0.747;0.836	.|B;P;P;B;P	.|0.52267	.|0.396;0.694;0.497;0.401;0.605	T|T	0.46148|0.46148	-0.9212|-0.9212	5|10	.|0.44086	.|T	.|0.13	.|.	12.326|12.326	0.55011|0.55011	0.0768:0.0:0.9232:0.0|0.0768:0.0:0.9232:0.0	.|.	.|511;487;1649;1604;1613	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;.;DOCK4_HUMAN;.	I|H	1065;1637|1592;1613;487;1604;1601	.|ENSP00000410746:P1613H;ENSP00000440944:P487H;ENSP00000404179:P1604H	.|ENSP00000345432:P1601H	L|P	-|-	1|2	2|0	DOCK4|DOCK4	111168913|111168913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.993000|4.993000	0.63895|0.63895	2.709000|2.709000	0.92574|0.92574	0.650000|0.650000	0.86243|0.86243	CTA|CCT	DOCK4	-	NULL	ENSG00000128512		0.418	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	-	0	27	0	G	NM_014705		111381677	-1	tier1	-	no_errors	ENST00000428084	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	111381677	G	T	111381677	3	4	172	1	0	0	0	0	1	0	0	0	4703	1000	35	3	1121	3	DOCK4	7	111381677	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	618704	111381677	47756986	89	43233											
TEX15	56154	genome.wustl.edu	37	chr8	30694786	30694786	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctgcattaggacttttGaatttttgtcattctgttgt	7	21	7	6	0	3	1	1	1	2	0	3	2	3	2	0	1	1	2	0	1	2	8			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr8:30694786G>T	ENST00000256246.2	-	3	7939	c.7865C>A	c.(7864-7866)tCa>tAa	p.S2622*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2622					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)		TAGGACTTTTGAATTTTTGTC	0.383																																																	0													98	99	99					8																	30694786		2203	4300	6503	SO:0001587	stop_gained	0			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.7865C>A	8.37:g.30694786G>T	ENSP00000256246:p.Ser2622*			Nonsense_Mutation	SNP	NULL	p.S2622*	ENST00000256246.2	37	c.7865	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	47	13.385633	0.99739	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.6	3.59	0.41128	.	1.028960	0.07764	N	0.950579	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.0292	0.36249	0.1914:0.0:0.8086:0.0	.	.	.	.	X	2622	.	ENSP00000256246:S2622X	S	-	2	0	TEX15	30814328	0.007000	0.16637	0.002000	0.10522	0.071000	0.16799	1.661000	0.37408	1.334000	0.45468	0.650000	0.86243	TCA	TEX15	-	NULL	ENSG00000133863		0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1		0	46	0	G			30694786	-1			no_errors	ENST00000256246	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.001	T	T	30694786	G	T	30694786	4	4	172	1	0	0	0	0	0	1	0	0	15826	1294	45	3	512	3	TEX15	8	30694786	Nonsense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09		30694786	115669236	90	43234											
MMP16	4325	genome.wustl.edu	37	chr8	89339336	89339336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	atactgctccgttccgcagaCtgtagcacataaaatccaaa	14	9	6	12	2	0	1	0	0	0	1	3	1	3	1	3	0	3	5	3	0	5	4	rs145799922		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr8:89339336C>G	ENST00000286614.6	-	1	381	c.100G>C	c.(100-102)Gtc>Ctc	p.V34L	RP11-586K2.1_ENST00000520849.1_RNA|MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000521433.1_RNA|RP11-586K2.1_ENST00000523254.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	34					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GTTCCGCAGACTGTAGCACAT	0.493																																																	0													153	131	139					8																	89339336		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.100G>C	8.37:g.89339336C>G	ENSP00000286614:p.Val34Leu		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.V34L	ENST00000286614.6	37	c.100	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595347	0.46318	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.37752	1.18;1.18	5.58	5.58	0.84498	.	0.493853	0.22191	N	0.063362	T	0.20618	0.0496	N	0.08118	0	0.41206	D	0.986401	B;B	0.29988	0.264;0.0	B;B	0.28011	0.085;0.0	T	0.10268	-1.0637	10	0.10111	T	0.7	.	17.7585	0.88457	0.0:1.0:0.0:0.0	.	34;34	P51512-2;P51512	.;MMP16_HUMAN	L	34;51	ENSP00000286614:V34L;ENSP00000429147:V51L	ENSP00000286614:V34L	V	-	1	0	MMP16	89408452	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.505000	0.53356	2.621000	0.88768	0.563000	0.77884	GTC	MMP16	-	pirsf_Pept_M10A_Metazoans	ENSG00000156103		0.493	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0	41	0	C	NM_005941		89339336	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	26.53	36	13	SNP	1.000	G	G	89339336	C	G	89339336	3	3	172	1	0	0	0	0	1	0	0	0	9693	565	20	5	1919	5	MMP16	8	89339336	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	58644550	89339336	57024686	91	43235											
TMEM67	91147	genome.wustl.edu	37	chr8	94792886	94792886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgaacatgaattcttaCgactttgccacatttgatgc	11	14	8	8	1	1	4	0	4	1	0	1	5	1	4	1	0	4	0	1	0	3	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr8:94792886C>T	ENST00000453321.3	+	8	838	c.780C>T	c.(778-780)taC>taT	p.Y260Y	TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Silent_p.Y179Y	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	260					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGAATTCTTACGACTTTGCCA	0.348																																																	0													251	238	242					8																	94792886		2203	4300	6503	SO:0001819	synonymous_variant	0			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.780C>T	8.37:g.94792886C>T			B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom	p.Y260	ENST00000453321.3	37	c.780	CCDS6258.2	8																																																																																			TMEM67	-	pfam_Meckelin	ENSG00000164953		0.348	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2	-	0	50	0	C	NM_153704		94792886	1	tier1	-	no_errors	ENST00000453321	ensembl	human	known	74_37	silent	34.88	56	30	SNP	0.034	T	T	94792886	C	T	94792886	2	4	172	1	0	0	0	0	0	0	0	1	16243	547	19	1		1	TMEM67	8	94792886	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	5453550	94792886	51571136	92	43236											
CSMD3	114788	genome.wustl.edu	37	chr8	113256779	113256779	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatttgcatgagcaggagTttctggctgtttacagctgt	8	14	12	7	0	1	1	0	1	1	0	1	3	1	2	0	2	4	6	0	2	1	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr8:113256779T>G	ENST00000297405.5	-	65	10490	c.10246A>C	c.(10246-10248)Act>Cct	p.T3416P	CSMD3_ENST00000455883.2_Missense_Mutation_p.T3247P|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3346P|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3376P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3416	Sushi 28. {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						TGAGCAGGAGTTTCTGGCTGT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													113	100	104					8																	113256779		2203	4300	6503	SO:0001583	missense	0			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.10246A>C	8.37:g.113256779T>G	ENSP00000297405:p.Thr3416Pro		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T3416P	ENST00000297405.5	37	c.10246	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885774	0.33255	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.17	5.17	0.71159	Complement control module (2);Sushi/SCR/CCP (3);	0.345250	0.26311	N	0.025106	T	0.59473	0.2196	N	0.17800	0.525	0.30448	N	0.775504	B;B;D	0.56746	0.429;0.269;0.977	B;B;P	0.60012	0.322;0.383;0.867	T	0.58999	-0.7536	10	0.34782	T	0.22	.	9.3456	0.38107	0.2714:0.0:0.0:0.7285	.	3247;3416;3376	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	P	3376;3416;2686;3247;3346	ENSP00000345799:T3376P;ENSP00000297405:T3416P;ENSP00000341558:T2686P;ENSP00000412263:T3247P;ENSP00000343124:T3346P	ENSP00000297405:T3416P	T	-	1	0	CSMD3	113325955	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	3.187000	0.50950	2.170000	0.68504	0.482000	0.46254	ACT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	59	0	T	NM_052900		113256779	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	G	G	113256779	T	G	113256779	3	3	172	1	0	0	0	0	1	0	0	0	3955	1725	60	4	905	4	CSMD3	8	113256779	Missense_Mutation	SNP	T	TCGA-VR-AA4D-01A-11D-A37C-09	18463893	113256779	33107243	93	43237											
MTSS1	9788	genome.wustl.edu	37	chr8	125716370	125716370	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaacatgtgcttctacttaCcgaagctgggactgcagctt	10	11	10	10	1	1	1	0	0	1	1	1	3	1	2	1	1	7	4	1	1	4	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr8:125716370C>T	ENST00000518547.1	-	2	608		c.e2+1		MTSS1_ENST00000378017.3_Splice_Site|MTSS1_ENST00000325064.5_Splice_Site|MTSS1_ENST00000354184.4_Splice_Site	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1						actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTCTACTTACCGAAGCTGGG	0.453																																					Esophageal Squamous(160;622 1893 3862 8546 12509)												0													168	144	152					8																	125716370		2203	4300	6503	SO:0001630	splice_region_variant	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.134+1G>A	8.37:g.125716370C>T			J3KNK6|Q8TCA2|Q96RX2	Splice_Site	SNP	-	e2+1	ENST00000518547.1	37	c.134+1	CCDS6353.1	8	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686895	0.88639	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064;ENST00000522162	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9474	0.97186	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTSS1	125785551	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.497000	0.73674	2.821000	0.97095	0.484000	0.47621	.	MTSS1	-	-	ENSG00000170873		0.453	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3	-	0	39	0	C	NM_014751	Intron	125716370	-1	tier1	-	no_errors	ENST00000518547	ensembl	human	known	74_37	splice_site	56.67	13	17	SNP	1.000	T	T	125716370	C	T	125716370	5	4	172	1	0	0	0	0	0	0	1	0	10000	521	18	3	2184	3	MTSS1	8	125716370	Splice_Site	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	12459591	125716370	20647652	94	43238											
HSF1	3297	genome.wustl.edu	37	chr8	145537251	145537251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacctggataacctgcaGaccatgctgagcagccacgg	11	6	10	14	1	0	2	0	1	0	1	1	3	1	3	5	2	6	3	5	2	2	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr8:145537251G>T	ENST00000528838.1	+	10	1357	c.1197G>T	c.(1195-1197)caG>caT	p.Q399H	GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'Flank|HSF1_ENST00000528842.1_3'UTR|HSF1_ENST00000400780.4_Missense_Mutation_p.Q362H	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	399	Hydrophobic repeat HR-C.|Transactivation 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)			ATAACCTGCAGACCATGCTGA	0.672																																																	0													80	60	66					8																	145537251		2202	4299	6501	SO:0001583	missense	0			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.1197G>T	8.37:g.145537251G>T	ENSP00000431512:p.Gln399His		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.Q399H	ENST00000528838.1	37	c.1197	CCDS6419.1	8	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888858	0.91814	.	.	ENSG00000185122	ENST00000528838;ENST00000400780	.	.	.	4.84	4.84	0.62591	Vertebrate heat shock transcription factor (1);	0.065750	0.64402	D	0.000006	T	0.79839	0.4515	M	0.80422	2.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.82835	-0.0261	9	0.87932	D	0	-26.9679	15.4864	0.75571	0.0:0.0:1.0:0.0	.	399	Q00613	HSF1_HUMAN	H	399;362	.	ENSP00000383590:Q362H	Q	+	3	2	HSF1	145508059	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.957000	0.76019	2.501000	0.84356	0.650000	0.86243	CAG	HSF1	-	pfam_Vert_HSTF_C	ENSG00000185122		0.672	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF1	HGNC	protein_coding	OTTHUMT00000382053.1		0	23	0	G	NM_005526		145537251	1			no_errors	ENST00000528838	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	145537251	G	T	145537251	3	4	172	1	0	0	0	0	1	0	0	0	7422	933	33	3	1235	3	HSF1	8	145537251	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	19820881	145537251	826771	95	43239											
RANBP6	26953	genome.wustl.edu	37	chr9	6012712	6012712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttttggttttggaatttgCacacttaataacttttacca	10	20	5	6	0	0	0	0	0	0	0	0	1	0	1	1	2	3	2	1	2	4	10			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:6012712C>T	ENST00000259569.5	-	1	2906	c.2896G>A	c.(2896-2898)Gca>Aca	p.A966T	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	966					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)		TTGGAATTTGCACACTTAATA	0.378																																																	0													100	93	95					9																	6012712		2203	4300	6503	SO:0001583	missense	0			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.2896G>A	9.37:g.6012712C>T	ENSP00000259569:p.Ala966Thr		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.A966T	ENST00000259569.5	37	c.2896	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778760	0.31502	.	.	ENSG00000137040	ENST00000259569	T	0.11063	2.81	4.78	3.88	0.44766	Armadillo-like helical (1);Armadillo-type fold (1);	0.248378	0.39475	N	0.001344	T	0.12347	0.0300	M	0.68952	2.095	0.45378	D	0.99836	B;B;B	0.16396	0.017;0.004;0.004	B;B;B	0.13407	0.009;0.006;0.009	T	0.04900	-1.0919	10	0.56958	D	0.05	-9.1304	6.9877	0.24737	0.0:0.7347:0.1743:0.0911	.	133;554;966	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	T	966	ENSP00000259569:A966T	ENSP00000259569:A966T	A	-	1	0	RANBP6	6002712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.960000	0.40422	1.626000	0.50381	0.650000	0.86243	GCA	RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.378	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	-	0	42	0	C	NM_012416		6012712	-1	tier1	-	no_errors	ENST00000259569	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T	T	6012712	C	T	6012712	3	4	172	1	0	0	0	0	1	0	0	0	13076	710	25	3	425	3	RANBP6	9	6012712	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09		6012712	135200719	96	43240											
PTPRD	5789	genome.wustl.edu	37	chr9	8500768	8500768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acataccatcttcattggttCgaatcaacacggacaagctc	13	10	6	12	2	3	0	2	0	1	0	5	2	3	1	1	2	3	2	1	2	4	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:8500768C>T	ENST00000381196.4	-	21	2657	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	PTPRD_ENST00000358503.5_Missense_Mutation_p.R692Q|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Missense_Mutation_p.R705Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R705Q|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.R692Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	705	Fibronectin type-III 4. {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)		TTCATTGGTTCGAATCAACAC	0.473										TSP Lung(15;0.13)																																							0													185	165	172					9																	8500768		2203	4300	6503	SO:0001583	missense	0			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.2114G>A	9.37:g.8500768C>T	ENSP00000370593:p.Arg705Gln		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.R705Q	ENST00000381196.4	37	c.2114	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840511	0.91197	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.58;0.51	5.83	5.83	0.93111	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.057811	0.64402	D	0.000001	T	0.71099	0.3300	M	0.63208	1.945	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.70227	0.935;0.968;0.947	T	0.67692	-0.5605	9	.	.	.	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	692;705;705	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	Q	705;705;692;692;705	ENSP00000370593:R705Q;ENSP00000348812:R705Q;ENSP00000353187:R692Q;ENSP00000351293:R692Q;ENSP00000438164:R705Q	.	R	-	2	0	PTPRD	8490768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.746000	0.94184	0.563000	0.77884	CGA	PTPRD	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3		0	74	0	C			8500768	-1			no_errors	ENST00000356435	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	8500768	C	T	8500768	3	4	172	1	0	0	0	0	1	0	0	0	12844	884	31	1	3784	1	PTPRD	9	8500768	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	2488056	8500768	132712663	97	43241											
PTPRD	5789	genome.wustl.edu	37	chr9	8733794	8733794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttactctcagcatccgtgCggaggaagaaagtgaggagc	11	7	14	9	2	1	2	1	1	1	1	3	5	2	5	1	3	4	2	1	3	3	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:8733794C>T	ENST00000381196.4	-	9	593	c.50G>A	c.(49-51)cGc>cAc	p.R17H	PTPRD_ENST00000358503.5_Missense_Mutation_p.R17H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R17H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R17H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R17H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R17H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R17H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R17H|PTPRD_ENST00000463477.1_Missense_Mutation_p.R17H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R17H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R17H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R17H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	17					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R17H(1)		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)		AGCATCCGTGCGGAGGAAGAA	0.582										TSP Lung(15;0.13)																																							1	Substitution - Missense(1)	large_intestine(1)											65	52	56					9																	8733794		2166	4233	6399	SO:0001583	missense	0			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.50G>A	9.37:g.8733794C>T	ENSP00000370593:p.Arg17His		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.R17H	ENST00000381196.4	37	c.50	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225700	0.39300	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	T;T;T;T;T;T;T;T;T;T;T;T;T	0.73681	0.58;0.58;0.63;0.68;0.76;0.89;0.63;0.54;0.58;0.76;0.88;-0.55;-0.77	5.56	0.58	0.17402	.	1.057470	0.07351	N	0.882479	T	0.45796	0.1360	N	0.03608	-0.345	0.21473	N	0.999672	B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;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;0.0;0.0	T	0.27905	-1.0060	9	.	.	.	.	2.8975	0.05694	0.12:0.4312:0.1066:0.3423	.	17;17;17;17;17;17;17;17;17;17	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	17	ENSP00000370593:R17H;ENSP00000348812:R17H;ENSP00000353187:R17H;ENSP00000351293:R17H;ENSP00000347373:R17H;ENSP00000380741:R17H;ENSP00000380735:R17H;ENSP00000440515:R17H;ENSP00000438164:R17H;ENSP00000417093:R17H;ENSP00000380731:R17H;ENSP00000417661:R17H;ENSP00000417890:R17H	.	R	-	2	0	PTPRD	8723794	0.003000	0.15002	0.491000	0.27477	0.948000	0.59901	-1.113000	0.03296	0.181000	0.19994	0.655000	0.94253	CGC	PTPRD	-	NULL	ENSG00000153707		0.582	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3		0	30	0	C			8733794	-1			no_errors	ENST00000356435	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.733	T	T	8733794	C	T	8733794	3	4	172	1	0	0	0	0	1	0	0	0	12844	768	27	1	5896	1	PTPRD	9	8733794	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	233026	8733794	132479637	98	43242											
CDKN2A	1029	genome.wustl.edu	37	chr9	21974744	21974744	+	Missense_Mutation	SNP	A	A	G	1	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	ccgcctccagcagcgcccgcAcctcctctacccgaccccgg	5	4	8	24	5	1	0	0	0	1	0	3	1	3	0	9	1	3	2	9	1	1	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:21974744A>G	ENST00000304494.5	-	1	353	c.83T>C	c.(82-84)gTg>gCg	p.V28A	CDKN2A_ENST00000579122.1_Missense_Mutation_p.V28A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.V28A|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V28A|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	28					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.V28_E33del(2)|p.0(1)|p.V28_V51del(1)|p.V28fs*15(1)|p.R22fs*14(1)|p.V28G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCGCCCGCACCTCCTCTAC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1345	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(3)|Deletion - Frameshift(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(278)|skin(169)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(53)|pleura(52)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM024658	CDKN2A	M							23	30	28					9																	21974744		1949	3939	5888	SO:0001583	missense	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.83T>C	9.37:g.21974744A>G	ENSP00000307101:p.Val28Ala		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.V28A	ENST00000304494.5	37	c.83	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409048	0.83340	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.71222	-0.55;-0.55	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.81375	0.4809	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82631	-0.0362	9	0.56958	D	0.05	.	13.8927	0.63750	1.0:0.0:0.0:0.0	.	28;28	P42771;G3XAG3	CD2A1_HUMAN;.	A	28	ENSP00000307101:V28A;ENSP00000394932:V28A	ENSP00000307101:V28A	V	-	2	0	CDKN2A	21964744	0.963000	0.33076	1.000000	0.80357	0.918000	0.54935	4.872000	0.63050	2.165000	0.68154	0.533000	0.62120	GTG	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000147889		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0	23	0	A	NM_000077		21974744	-1			no_errors	ENST00000446177	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	G	G	21974744	A	G	21974744	3	3	172	1	0	0	0	0	1	0	0	0	3168	159	6	4	600	4	CDKN2A	9	21974744	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	13240950	21974744	119238687	99	43243											
LINGO2	158038	genome.wustl.edu	37	chr9	27950666	27950666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgatatggccgtgtgaaGcatgactccacttcttagtc	9	12	10	10	1	1	3	0	3	1	0	3	3	2	3	2	1	1	2	2	1	3	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:27950666G>T	ENST00000379992.2	-	6	453	c.4C>A	c.(4-6)Ctt>Att	p.L2I	LINGO2_ENST00000308675.3_Missense_Mutation_p.L2I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	2						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)		GCCGTGTGAAGCATGACTCCA	0.522																																																	0													60	45	50					9																	27950666		2203	4300	6503	SO:0001583	missense	0			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.4C>A	9.37:g.27950666G>T	ENSP00000369328:p.Leu2Ile		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L2I	ENST00000379992.2	37	c.4	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071890	0.76301	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.57595	0.39;0.39	5.74	5.74	0.90152	.	0.063428	0.64402	D	0.000004	T	0.54240	0.1846	L	0.61218	1.895	0.80722	D	1	B	0.16802	0.019	B	0.19391	0.025	T	0.47045	-0.9147	9	.	.	.	.	20.2825	0.98528	0.0:0.0:1.0:0.0	.	2	Q7L985	LIGO2_HUMAN	I	2	ENSP00000369328:L2I;ENSP00000310126:L2I	.	L	-	1	0	LINGO2	27940666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.510000	0.73729	2.873000	0.98535	0.561000	0.74099	CTT	LINGO2	-	NULL	ENSG00000174482		0.522	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2		0	35	0	G	NM_152570		27950666	-1			no_errors	ENST00000308675	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	27950666	G	T	27950666	3	4	172	1	0	0	0	0	1	0	0	0	8845	971	34	3	1820	3	LINGO2	9	27950666	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	5975922	27950666	113262765	100	43244											
TRPM3	80036	genome.wustl.edu	37	chr9	73225653	73225653	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactccccgttgtttcGtcccaacattgcctatgttg	6	13	10	12	2	0	0	0	0	0	0	3	2	2	2	4	2	2	3	4	2	2	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:73225653G>A	ENST00000377111.2	-	18	2746	c.2503C>T	c.(2503-2505)Cga>Tga	p.R835*	TRPM3_ENST00000396292.4_Nonsense_Mutation_p.R707*|TRPM3_ENST00000357533.2_Nonsense_Mutation_p.R839*|TRPM3_ENST00000377105.1_Nonsense_Mutation_p.R694*|TRPM3_ENST00000377110.3_Nonsense_Mutation_p.R835*|TRPM3_ENST00000423814.3_Nonsense_Mutation_p.R862*|TRPM3_ENST00000358082.3_Nonsense_Mutation_p.R697*|TRPM3_ENST00000408909.2_Nonsense_Mutation_p.R694*|TRPM3_ENST00000396285.1_Nonsense_Mutation_p.R682*|TRPM3_ENST00000360823.2_Nonsense_Mutation_p.R697*|TRPM3_ENST00000377106.1_Nonsense_Mutation_p.R707*|TRPM3_ENST00000396280.5_Nonsense_Mutation_p.R684*	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	860					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						CCGTTGTTTCGTCCCAACATT	0.463																																																	0													168	143	152					9																	73225653		2203	4300	6503	SO:0001587	stop_gained	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2503C>T	9.37:g.73225653G>A	ENSP00000366315:p.Arg835*		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Nonsense_Mutation	SNP	pfam_Ion_trans_dom	p.R862*	ENST00000377111.2	37	c.2584		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.298242|10.298242	0.99378|0.99378	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	.|.	.|.	.|.	6.17|6.17	4.29|4.29	0.51040|0.51040	.|.	0.309590|.	0.30999|.	N|.	0.008443|.	.|T	.|0.64649	.|0.2617	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69847	.|-0.5034	.|3	0.02654|.	T|.	1|.	-10.9584|-10.9584	14.362|14.362	0.66779|0.66779	0.0:0.0:0.6115:0.3885|0.0:0.0:0.6115:0.3885	.|.	.|.	.|.	.|.	X|M	835;835;707;697;694;839;694;682;707;697;862|683	.|.	ENSP00000350140:R839X|.	R|T	-|-	1|2	2|0	TRPM3|TRPM3	72415473|72415473	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.991000|0.991000	0.79684|0.79684	3.765000|3.765000	0.55272|0.55272	0.876000|0.876000	0.35872|0.35872	0.655000|0.655000	0.94253|0.94253	CGA|ACG	TRPM3	-	NULL	ENSG00000083067		0.463	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0	66	0	G	NM_206945		73225653	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	nonsense	18.48	75	17	SNP	0.949	A	A	73225653	G	A	73225653	4	1	172	1	0	0	0	0	0	1	0	0	16635	1153	40	1	2652	1	TRPM3	9	73225653	Nonsense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	45274987	73225653	67987778	101	43245											
FLJ46321	389763	genome.wustl.edu	37	chr9	84608742	84608742	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagagctgcccataatgcaAgctggagctggctgtgagtc	9	8	14	10	0	0	2	0	1	0	1	1	3	0	3	1	2	5	6	1	2	2	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:84608742A>C	ENST00000344803.2	+	4	3404	c.3357A>C	c.(3355-3357)caA>caC	p.Q1119H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1119					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCATAATGCAAGCTGGAGCTG	0.507																																																	0													69	70	70					9																	84608742		1983	4166	6149	SO:0001583	missense	0				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.3357A>C	9.37:g.84608742A>C	ENSP00000341988:p.Gln1119His			Missense_Mutation	SNP	NULL	p.Q1119H	ENST00000344803.2	37	c.3357	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	A	9.437	1.087152	0.20390	.	.	ENSG00000214929	ENST00000344803	T	0.05649	3.41	2.59	1.44	0.22558	.	.	.	.	.	T	0.09379	0.0231	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.28681	-1.0036	9	0.46703	T	0.11	-1.4629	4.3172	0.10998	0.8339:0.0:0.1661:0.0	.	1119	Q6ZQQ2	F75D1_HUMAN	H	1119	ENSP00000341988:Q1119H	ENSP00000341988:Q1119H	Q	+	3	2	FAM75D1	83798562	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.095000	0.15127	0.433000	0.26313	0.491000	0.48974	CAA	SPATA31D1	-	NULL	ENSG00000214929		0.507	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	44	0	A	NM_001001670		84608742	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	25.00	39	13	SNP	0.001	C	C	84608742	A	C	84608742	3	2	172	1	0	0	0	0	1	0	0	0	5954	69	3	4	3371	4	FLJ46321	9	84608742	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	11383089	84608742	56604689	102	43246											
NCBP1	4686	genome.wustl.edu	37	chr9	100407403	100407403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttgccccaacaggtccGttttttatctgatcttgtga	6	18	8	9	1	2	2	0	2	2	0	3	2	3	2	3	1	2	2	3	1	2	6			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:100407403G>A	ENST00000375147.3	+	5	642	c.386G>A	c.(385-387)cGt>cAt	p.R129H		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	129	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CAACAGGTCCGTTTTTTATCT	0.343																																					Ovarian(36;879 898 2893 44212 50307)												0													141	133	136					9																	100407403		2203	4300	6503	SO:0001583	missense	0			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.386G>A	9.37:g.100407403G>A	ENSP00000364289:p.Arg129His		B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.R129H	ENST00000375147.3	37	c.386	CCDS6728.1	9	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110470	0.77210	.	.	ENSG00000136937	ENST00000375147	T	0.31769	1.48	5.64	3.77	0.43336	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.050938	0.85682	D	0.000000	T	0.41903	0.1179	M	0.76002	2.32	0.80722	D	1	D	0.53312	0.959	P	0.48552	0.581	T	0.50583	-0.8811	10	0.66056	D	0.02	-15.3136	13.1198	0.59318	0.1394:0.0:0.8606:0.0	.	129	Q09161	NCBP1_HUMAN	H	129	ENSP00000364289:R129H	ENSP00000364289:R129H	R	+	2	0	NCBP1	99447224	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	7.576000	0.82467	1.532000	0.49169	0.650000	0.86243	CGT	NCBP1	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000136937		0.343	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	-	0	96	0	G	NM_002486		100407403	1	tier1	-	no_errors	ENST00000375147	ensembl	human	known	74_37	missense	5.62	84	5	SNP	1.000	A	A	100407403	G	A	100407403	3	1	172	1	0	0	0	0	1	0	0	0	10250	1145	40	1	404	1	NCBP1	9	100407403	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	15798661	100407403	40806028	103	43247											
EHMT1	79813	genome.wustl.edu	37	chr9	140710455	140710455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcccttgatcttcgaatgCaaccacgcgtgctcctgctg	6	11	8	16	3	1	1	0	1	1	0	4	2	3	1	4	0	4	3	4	0	2	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr9:140710455C>T	ENST00000460843.1	+	23	3342	c.3315C>T	c.(3313-3315)tgC>tgT	p.C1105C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1105	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCTTCGAATGCAACCACGCGT	0.592																																																	0													63	54	57					9																	140710455		2203	4300	6503	SO:0001819	synonymous_variant	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3315C>T	9.37:g.140710455C>T			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.C1105	ENST00000460843.1	37	c.3315	CCDS7050.2	9																																																																																			EHMT1	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom	ENSG00000181090		0.592	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2		0	51	0	C	NM_024757		140710455	1			no_errors	ENST00000460843	ensembl	human	known	74_37	silent	6.02	77	5	SNP	1.000	T	T	140710455	C	T	140710455	2	4	172	1	0	0	0	0	0	0	0	1	4997	718	25	3		3	EHMT1	9	140710455	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	40303052	140710455	502976	104	43248											
ZNF25	219749	genome.wustl.edu	37	chr10	38246038	38246038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttggcttattcacatGgtaacctatgaatggaaaat	13	14	8	6	0	1	1	1	1	0	0	1	2	1	2	1	3	2	3	1	3	6	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr10:38246038G>T	ENST00000302609.7	-	4	360	c.148C>A	c.(148-150)Cat>Aat	p.H50N	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	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)	p.H50Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TTATTCACATGGTAACCTATG	0.388																																																	1	Substitution - Missense(1)	lung(1)											102	94	96					10																	38246038		2203	4300	6503	SO:0001583	missense	0			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"Zinc fingers, C2H2-type", "-"	13043	protein-coding gene	gene with protein product		194528	"zinc finger protein 25 (KOX 19)"			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.148C>A	10.37:g.38246038G>T	ENSP00000302222:p.His50Asn		A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H50N	ENST00000302609.7	37	c.148	CCDS7195.1	10	.	.	.	.	.	.	.	.	.	.	G	5.416	0.261891	0.10239	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.40476	1.03	4.94	-0.954	0.10359	Krueppel-associated box (3);	1.578110	0.03803	N	0.264731	T	0.34978	0.0916	L	0.52126	1.63	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.12243	-1.0555	10	0.22706	T	0.39	-1.1525	5.8287	0.18568	0.303:0.1428:0.5542:0.0	.	50	P17030	ZNF25_HUMAN	N	50;14	ENSP00000302222:H50N	ENSP00000302222:H50N	H	-	1	0	ZNF25	38286044	0.001000	0.12720	0.000000	0.03702	0.270000	0.26580	0.005000	0.13129	-0.258000	0.09446	0.555000	0.69702	CAT	ZNF25	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000175395		0.388	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	HGNC	protein_coding	OTTHUMT00000051214.1		0	43	0	G	NM_145011, NM_006966		38246038	-1			no_errors	ENST00000302609	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	T	T	38246038	G	T	38246038	3	4	172	1	0	0	0	0	1	0	0	0	17842	1348	47	3	1234	3	ZNF25	10	38246038	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09		38246038	97288709	105	43249											
BICC1	80114	genome.wustl.edu	37	chr10	60273032	60273032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccggggcgaccctgcacagCccggagtggagcgaggagcg	7	2	19	13	5	0	0	0	0	0	0	0	5	0	3	3	5	4	1	3	5	0	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr10:60273032C>T	ENST00000373886.3	+	1	133	c.129C>T	c.(127-129)agC>agT	p.S43S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	43					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						CCCTGCACAGCCCGGAGTGGA	0.672																																																	0													37	36	36					10																	60273032		2203	4300	6503	SO:0001819	synonymous_variant	0			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.129C>T	10.37:g.60273032C>T				Silent	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.S43	ENST00000373886.3	37	c.129	CCDS31206.1	10																																																																																			BICC1	-	NULL	ENSG00000122870		0.672	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	-	0	53	0	C	NM_025044		60273032	1	tier1	-	no_errors	ENST00000373886	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T	T	60273032	C	T	60273032	2	4	172	1	0	0	0	0	0	0	0	1	1429	738	26	3		3	BICC1	10	60273032	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	22026994	60273032	75261715	106	43250											
NPFFR1	64106	genome.wustl.edu	37	chr10	72015106	72015106	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gtgaccaggtgcagctgcggCgcgctgagctgcccgtagtc	5	7	16	13	4	0	2	0	2	0	0	1	2	0	2	2	2	5	5	2	2	1	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr10:72015106C>T	ENST00000277942.6	-	4	899	c.900G>A	c.(898-900)gcG>gcA	p.A300A		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	300					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						GCAGCTGCGGCGCGCTGAGCT	0.642																																																	0													10	14	13					10																	72015106		2139	4222	6361	SO:0001819	synonymous_variant	0			AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	17425	protein-coding gene	gene with protein product	"neuropeptide FF 1"	607448	"G protein-coupled receptor 147"	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.900G>A	10.37:g.72015106C>T			A2RRF0|Q8NGR0|Q96RN3	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_1,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.A300	ENST00000277942.6	37	c.900	CCDS53539.1	10																																																																																			NPFFR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000148734		0.642	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NPFFR1	HGNC	protein_coding	OTTHUMT00000048504.2	-	0	13	0	C	NM_022146		72015106	-1	tier1	-	no_errors	ENST00000277942	ensembl	human	novel	74_37	silent	52.63	9	10	SNP	1.000	T	T	72015106	C	T	72015106	2	4	172	1	0	0	0	0	0	0	0	1	10616	755	27	1		1	NPFFR1	10	72015106	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	11742074	72015106	63519641	107	43251											
EXOC6	54536	genome.wustl.edu	37	chr10	94714402	94714402	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tttagctcaacagaaatagaCgatatgcttagaaaatcaac	18	10	6	7	1	2	3	2	0	0	3	2	4	2	3	0	0	4	2	0	0	9	5	rs146699258		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr10:94714402C>T	ENST00000260762.6	+	16	1556	c.1542C>T	c.(1540-1542)gaC>gaT	p.D514D	EXOC6_ENST00000371552.4_Silent_p.D509D|EXOC6_ENST00000443748.2_Silent_p.D411D|EXOC6_ENST00000371547.4_Silent_p.D530D	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	514					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CAGAAATAGACGATATGCTTA	0.299													C|||	1	0.000199681	0	0	5008	,	,		14631	0		0.001	False		,,,				2504	0																0								C	,	0,4406		0,0,2203	68	72	71		1527,1542	-2.4	1	10	dbSNP_134	71	5,8589	4.3+/-15.6	0,5,4292	yes	coding-synonymous,coding-synonymous	EXOC6	NM_001013848.2,NM_019053.4	,	0,5,6495	TT,TC,CC		0.0582,0.0,0.0385	,	509/800,514/805	94714402	5,12995	2203	4297	6500	SO:0001819	synonymous_variant	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1542C>T	10.37:g.94714402C>T			E9PHI3|Q5VXH8|Q9NZ24	Silent	SNP	pfam_Sec15,pirsf_Sec15	p.D530	ENST00000260762.6	37	c.1590	CCDS7424.2	10																																																																																			EXOC6	-	pfam_Sec15,pirsf_Sec15	ENSG00000138190		0.299	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	-	0	77	0	C	NM_019053		94714402	1	tier1	rs146699258	no_errors	ENST00000371547	ensembl	human	known	74_37	silent	15.62	54	10	SNP	0.997	T	T	94714402	C	T	94714402	2	4	172	1	0	0	0	0	0	0	0	1	5324	535	19	1		1	EXOC6	10	94714402	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	22699296	94714402	40820345	108	43252											
ABCC2	1244	genome.wustl.edu	37	chr10	101554170	101554170	+	Splice_Site	SNP	A	A	T	1	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	gatttttttgtgtctttcagAatccatcatccatagcttca	9	18	5	9	0	4	1	3	0	1	1	6	2	6	1	2	0	1	1	2	0	2	6			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr10:101554170A>T	ENST00000370449.4	+	6	690	c.577A>T	c.(577-579)Aat>Tat	p.N193Y	ABCC2_ENST00000496621.1_3'UTR|ABCC2_ENST00000370434.1_Splice_Site_p.N193Y	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	193					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)	TGTCTTTCAGAATCCATCATC	0.383																																																	0													142	120	127					10																	101554170		2203	4300	6503	SO:0001630	splice_region_variant	0			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.577-1A>T	10.37:g.101554170A>T			B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.N193Y	ENST00000370449.4	37	c.577	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	A	3.173	-0.169637	0.06461	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	D;D	0.87029	-2.2;-2.2	5.79	3.46	0.39613	.	0.086934	0.85682	D	0.000000	D	0.90566	0.7043	M	0.66439	2.03	0.53688	D	0.999973	D	0.89917	1.0	D	0.68621	0.959	D	0.88043	0.2782	9	.	.	.	-8.03	8.5721	0.33576	0.8018:0.131:0.0672:0.0	.	193	Q92887	MRP2_HUMAN	Y	193	ENSP00000359478:N193Y;ENSP00000359463:N193Y	.	N	+	1	0	ABCC2	101544160	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	4.114000	0.57858	0.459000	0.27016	0.454000	0.30748	AAT	ABCC2	-	tigrfam_Multidrug-R_assoc	ENSG00000023839		0.383	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	-	0	38	0	A	NM_000392	Missense_Mutation	101554170	1	tier1	-	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	101554170	A	T	101554170	5	4	172	1	0	0	0	0	0	0	1	0	53	260	9	5	599	5	ABCC2	10	101554170	Splice_Site	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	6839768	101554170	33980577	109	43253											
OR10A4	283297	genome.wustl.edu	37	chr11	6898665	6898665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcctcacgtatttccgaCcccaatccagtgcctcttct	7	12	4	18	2	3	0	1	0	2	0	6	1	6	0	7	0	1	1	7	0	2	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:6898665C>A	ENST00000379829.2	+	1	810	c.787C>A	c.(787-789)Ccc>Acc	p.P263T		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	263					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTATTTCCGACCCCAATCCAG	0.522																																																	0													173	142	152					11																	6898665		2201	4296	6497	SO:0001583	missense	0			AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"GPCR / Class A : Olfactory receptors"	15130	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily A, member 4 pseudogene"	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.787C>A	11.37:g.6898665C>A	ENSP00000369157:p.Pro263Thr		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P263T	ENST00000379829.2	37	c.787	CCDS7774.1	11	.	.	.	.	.	.	.	.	.	.	c	12.00	1.805384	0.31961	.	.	ENSG00000170782	ENST00000379829	T	0.00274	8.35	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.160002	0.29767	N	0.011255	T	0.00845	0.0028	M	0.92555	3.32	0.27439	N	0.953763	D	0.57257	0.979	D	0.64410	0.925	T	0.13710	-1.0499	10	0.66056	D	0.02	.	14.5082	0.67767	0.0:1.0:0.0:0.0	.	263	Q9H209	O10A4_HUMAN	T	263	ENSP00000369157:P263T	ENSP00000369157:P263T	P	+	1	0	OR10A4	6855241	0.406000	0.25344	0.266000	0.24541	0.122000	0.20287	2.486000	0.45259	2.554000	0.86153	0.651000	0.88453	CCC	OR10A4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000170782		0.522	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A4	HGNC	protein_coding	OTTHUMT00000385985.1	-	0	27	0	C	NM_207186		6898665	1	tier1	-	no_errors	ENST00000379829	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.631	A	A	6898665	C	A	6898665	3	1	172	1	0	0	0	0	1	0	0	0	10931	507	18	3	789	3	OR10A4	11	6898665	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09		6898665	128107851	110	43254											
PARVA	55742	genome.wustl.edu	37	chr11	12495472	12495472	+	Missense_Mutation	SNP	T	T	C	0	1	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	ttttaaagaggagaatgaggTgcgaacaatggtggatccaa	15	9	13	4	1	0	3	0	1	0	2	1	6	1	4	1	4	2	0	1	4	6	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:12495472T>C	ENST00000550549.1	+	3	288	c.239T>C	c.(238-240)gTg>gCg	p.V80A	PARVA_ENST00000538608.1_Missense_Mutation_p.V27A|PARVA_ENST00000539723.1_Missense_Mutation_p.V80A|PARVA_ENST00000526746.1_3'UTR|PARVA_ENST00000334956.8_Missense_Mutation_p.V120A			Q9NVD7	PARVA_HUMAN	parvin, alpha	80					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)		GAGAATGAGGTGCGAACAATG	0.488																																																	0													35	34	35					11																	12495472		1937	4127	6064	SO:0001583	missense	0			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.239T>C	11.37:g.12495472T>C	ENSP00000447198:p.Val80Ala		Q96C85|Q9HA48	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.V120A	ENST00000550549.1	37	c.359		11	.	.	.	.	.	.	.	.	.	.	T	12.34	1.909297	0.33721	.	.	ENSG00000197702	ENST00000334956;ENST00000539723;ENST00000550549;ENST00000538608;ENST00000528916	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.23	2.8	0.32819	Calponin homology domain (1);	0.205235	0.41500	D	0.000879	T	0.10121	0.0248	N	0.03608	-0.345	0.51233	D	0.999914	B;B;B	0.20164	0.001;0.0;0.042	B;B;B	0.17433	0.003;0.001;0.018	T	0.14504	-1.0470	10	0.34782	T	0.22	-18.9184	6.5933	0.22659	0.269:0.0:0.1402:0.5908	.	27;80;80	B7Z952;Q9NVD7;Q9NVD7-2	.;PARVA_HUMAN;.	A	120;80;80;27;44	ENSP00000334008:V120A;ENSP00000438967:V80A;ENSP00000447198:V80A;ENSP00000442960:V27A;ENSP00000435860:V44A	ENSP00000334008:V120A	V	+	2	0	PARVA	12452048	1.000000	0.71417	0.429000	0.26710	0.955000	0.61496	4.379000	0.59575	0.268000	0.21939	0.482000	0.46254	GTG	PARVA	-	superfamily_CH-domain	ENSG00000197702		0.488	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	PARVA	HGNC	protein_coding			0	54	0	T	NM_018222		12495472	1			no_errors	ENST00000334956	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.937	C	C	12495472	T	C	12495472	3	2	172	1	0	0	0	0	1	0	0	0	11507	1696	59	4	249	4	PARVA	11	12495472	Missense_Mutation	SNP	T	TCGA-VR-AA4D-01A-11D-A37C-09	5596807	12495472	122511044	111	43255											
HPS5	11234	genome.wustl.edu	37	chr11	18320503	18320503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caattcattcctacagacagCcacatcctgaatatctacga	14	10	4	13	1	2	2	1	1	1	1	4	3	4	2	3	0	3	0	3	0	5	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:18320503C>T	ENST00000349215.3	-	10	1277	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T	HPS5_ENST00000531848.1_Missense_Mutation_p.A220T|HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000438420.2_Missense_Mutation_p.A220T|HPS5_ENST00000396253.3_Missense_Mutation_p.A220T	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	334					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						CTACAGACAGCCACATCCTGA	0.393									Hermansky-Pudlak syndrome																																								0													124	112	116					11																	18320503		2199	4293	6492	SO:0001583	missense	0	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.1000G>A	11.37:g.18320503C>T	ENSP00000265967:p.Ala334Thr		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.A334T	ENST00000349215.3	37	c.1000	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774390	0.70107	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.58506	0.34;0.34;0.33;1.38	5.2	5.2	0.72013	.	0.100238	0.64402	D	0.000002	T	0.71434	0.3339	M	0.74881	2.28	0.58432	D	0.999996	D	0.58970	0.984	P	0.59643	0.861	T	0.71777	-0.4490	10	0.48119	T	0.1	.	14.1684	0.65493	0.1496:0.8504:0.0:0.0	.	334	Q9UPZ3	HPS5_HUMAN	T	220;220;334;220	ENSP00000379552:A220T;ENSP00000399590:A220T;ENSP00000265967:A334T;ENSP00000431758:A220T	ENSP00000265967:A334T	A	-	1	0	HPS5	18277079	0.992000	0.36948	1.000000	0.80357	0.869000	0.49853	2.640000	0.46579	2.861000	0.98227	0.655000	0.94253	GCT	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.393	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	-	0	45	0	C	NM_181507		18320503	-1	tier1	-	no_errors	ENST00000349215	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	18320503	C	T	18320503	3	4	172	1	0	0	0	0	1	0	0	0	7369	739	26	3	2445	3	HPS5	11	18320503	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	5825031	18320503	116686013	112	43256											
RAG2	5897	genome.wustl.edu	37	chr11	36615695	36615695	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaggctatgttattactGactgttaccatctgcagaga	12	14	8	7	0	1	2	0	1	1	1	1	3	1	2	1	1	3	4	1	1	5	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:36615695G>T	ENST00000311485.3	-	2	185	c.24C>A	c.(22-24)gtC>gtA	p.V8V	C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_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	8					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)				TGTTATTACTGACTGTTACCA	0.363									Familial Hemophagocytic Lymphohistiocytosis																																								0													50	57	54					11																	36615695		2202	4297	6499	SO:0001819	synonymous_variant	0	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.24C>A	11.37:g.36615695G>T			A8K9E9|Q8TBL4	Silent	SNP	pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD	p.V8	ENST00000311485.3	37	c.24	CCDS7903.1	11																																																																																			RAG2	-	pfam_RAG2	ENSG00000175097		0.363	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG2	HGNC	protein_coding	OTTHUMT00000389536.1		0	47	0	G	NM_000536		36615695	-1			no_errors	ENST00000311485	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.058	T	T	36615695	G	T	36615695	2	4	172	1	0	0	0	0	0	0	0	1	13050	1277	45	3		3	RAG2	11	36615695	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	18295192	36615695	98390821	113	43257											
MRPL16	54948	genome.wustl.edu	37	chr11	59574020	59574020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggctcacagcctttgctgCgaagggcaacttgtgggcaa	8	8	14	11	2	1	0	1	0	0	0	1	1	1	0	1	3	4	4	1	3	3	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:59574020C>T	ENST00000300151.4	-	4	769	c.556G>A	c.(556-558)Gca>Aca	p.A186T		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	186					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						GCCTTTGCTGCGAAGGGCAAC	0.517																																																	0													157	147	151					11																	59574020		2201	4295	6496	SO:0001583	missense	0			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.556G>A	11.37:g.59574020C>T	ENSP00000300151:p.Ala186Thr		Q9BYD0|Q9HB70	Missense_Mutation	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16	p.A186T	ENST00000300151.4	37	c.556	CCDS7976.1	11	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658178	0.47467	.	.	ENSG00000166902	ENST00000300151;ENST00000534340	T	0.21734	1.99	6.07	0.697	0.18081	Ribosomal protein L10e/L16 (2);	0.394084	0.33813	N	0.004527	T	0.08313	0.0207	N	0.04880	-0.145	0.23371	N	0.997812	B	0.02656	0.0	B	0.08055	0.003	T	0.30387	-0.9980	10	0.28530	T	0.3	-0.7148	7.2034	0.25893	0.0669:0.3803:0.443:0.1098	.	186	Q9NX20	RM16_HUMAN	T	186;83	ENSP00000300151:A186T	ENSP00000300151:A186T	A	-	1	0	MRPL16	59330596	1.000000	0.71417	0.226000	0.23910	0.972000	0.66771	1.899000	0.39818	0.144000	0.18951	-0.147000	0.13772	GCA	MRPL16	-	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16	ENSG00000166902		0.517	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL16	HGNC	protein_coding	OTTHUMT00000394521.1	-	0	61	0	C	NM_017840		59574020	-1	tier1	-	no_errors	ENST00000300151	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.998	T	T	59574020	C	T	59574020	3	4	172	1	0	0	0	0	1	0	0	0	9819	768	27	1	203	1	MRPL16	11	59574020	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	22958325	59574020	75432496	114	43258											
DAK	26007	genome.wustl.edu	37	chr11	61105513	61105513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcctgcagggccaccGcgtggccctccgttctgacc	4	7	12	18	3	1	1	0	1	1	0	3	1	3	1	6	2	2	4	6	2	0	1	rs150633640	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:61105513G>A	ENST00000394900.3	+	3	333	c.104G>A	c.(103-105)cGc>cAc	p.R35H	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	35	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)	p.R35H(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CAGGGCCACCGCGTGGCCCTC	0.657																																																	1	Substitution - Missense(1)	lung(1)											48	50	49					11																	61105513		2203	4298	6501	SO:0001583	missense	0				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.104G>A	11.37:g.61105513G>A	ENSP00000378360:p.Arg35His		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP	p.R35H	ENST00000394900.3	37	c.104	CCDS8003.1	11	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911553	0.92178	.	.	ENSG00000149476	ENST00000394900;ENST00000532173;ENST00000524968;ENST00000529479	T;T;T	0.34472	1.36;1.36;1.36	5.8	5.8	0.92144	Dak kinase (2);	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	L	0.41415	1.275	0.58432	D	0.999996	P	0.46395	0.877	P	0.51777	0.679	T	0.38222	-0.9671	10	0.87932	D	0	-13.4228	19.7185	0.96132	0.0:0.0:1.0:0.0	.	35	Q3LXA3	DHAK_HUMAN	H	35;35;35;34	ENSP00000378360:R35H;ENSP00000431844:R35H;ENSP00000432539:R34H	ENSP00000378360:R35H	R	+	2	0	DAK	60862089	1.000000	0.71417	0.963000	0.40424	0.481000	0.33189	7.448000	0.80631	2.764000	0.94973	0.555000	0.69702	CGC	DAK	-	pfam_Dak1,tigrfam_DhaK_ATP	ENSG00000149476		0.657	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAK	HGNC	protein_coding	OTTHUMT00000394425.4		0	18	0	G	NM_015533		61105513	1			no_errors	ENST00000394900	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	A	A	61105513	G	A	61105513	3	1	172	1	0	0	0	0	1	0	0	0	4237	1087	38	1	110	1	DAK	11	61105513	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	1531493	61105513	73901003	115	43259											
MAP4K2	5871	genome.wustl.edu	37	chr11	64557073	64557073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgcctctgggttgtcagtgGgaatgctctccaggatgatg	6	11	15	9	1	3	1	1	1	2	0	4	3	3	3	2	3	1	2	2	3	1	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:64557073G>T	ENST00000294066.2	-	32	2490	c.2399C>A	c.(2398-2400)cCc>cAc	p.P800H	MAP4K2_ENST00000377350.3_Missense_Mutation_p.P792H	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	800					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						GTTGTCAGTGGGAATGCTCTC	0.632																																																	0													97	85	89					11																	64557073		2201	4297	6498	SO:0001583	missense	0			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.2399C>A	11.37:g.64557073G>T	ENSP00000294066:p.Pro800His		Q86VU3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.P800H	ENST00000294066.2	37	c.2399	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516670	0.85495	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.71103	-0.54;-0.51	5.19	5.19	0.71726	Citron-like (1);	0.120251	0.56097	D	0.000024	T	0.82195	0.4984	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.84025	0.0356	10	0.87932	D	0	.	14.2799	0.66205	0.0:0.0:1.0:0.0	.	792;800	Q86VU3;Q12851	.;M4K2_HUMAN	H	800;792	ENSP00000294066:P800H;ENSP00000366567:P792H	ENSP00000294066:P800H	P	-	2	0	MAP4K2	64313649	1.000000	0.71417	0.987000	0.45799	0.826000	0.46750	8.251000	0.89838	2.446000	0.82766	0.555000	0.69702	CCC	MAP4K2	-	smart_Citron	ENSG00000168067		0.632	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1		0	60	0	G	NM_004579		64557073	-1			no_errors	ENST00000294066	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	64557073	G	T	64557073	3	4	172	1	0	0	0	0	1	0	0	0	9298	1232	43	3	67	3	MAP4K2	11	64557073	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	3451560	64557073	70449443	116	43260											
MAP3K11	4296	genome.wustl.edu	37	chr11	65375494	65375494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cagcaaggcagtcaatgccaCggtatggcacctccccggtc	9	6	11	15	2	1	0	1	0	0	0	3	0	2	0	4	4	2	4	4	4	3	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:65375494C>T	ENST00000530153.1	-	3	718	c.197G>A	c.(196-198)cGt>cAt	p.R66H	MAP3K11_ENST00000532507.1_5'Flank|MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.R323H					mitogen-activated protein kinase kinase kinase 11									p.R323H(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GTCAATGCCACGGTATGGCAC	0.602																																																	1	Substitution - Missense(1)	large_intestine(1)											107	81	90					11																	65375494		2201	4297	6498	SO:0001583	missense	0				CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.197G>A	11.37:g.65375494C>T	ENSP00000433886:p.Arg66His			Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.R323H	ENST00000530153.1	37	c.968		11	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881843	0.72294	.	.	ENSG00000173327	ENST00000309100;ENST00000530153;ENST00000526293;ENST00000529839	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.66	4.66	0.58398	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.146210	0.46145	D	0.000301	T	0.79246	0.4413	N	0.26092	0.79	0.49798	D	0.99982	P	0.52577	0.954	P	0.48552	0.581	T	0.82057	-0.0646	10	0.59425	D	0.04	.	15.083	0.72130	0.0:1.0:0.0:0.0	.	323	Q16584	M3K11_HUMAN	H	323;66;73;66	ENSP00000309597:R323H;ENSP00000433886:R66H;ENSP00000435970:R73H;ENSP00000435237:R66H	ENSP00000309597:R323H	R	-	2	0	MAP3K11	65132070	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.870000	0.69620	2.431000	0.82371	0.491000	0.48974	CGT	MAP3K11	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000173327		0.602	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390233.2	-	0	33	0	C			65375494	-1	tier1	-	no_errors	ENST00000309100	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	65375494	C	T	65375494	3	4	172	1	0	0	0	0	1	0	0	0	9283	536	19	1	1607	1	MAP3K11	11	65375494	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	818421	65375494	69631022	117	43261											
PACS1	55690	genome.wustl.edu	37	chr11	66006623	66006623	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cccctgacaggcgatggggaCgattctcctgtggtcagcct	6	9	13	13	2	2	1	1	1	1	0	3	4	2	2	4	4	1	0	4	4	0	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:66006623C>T	ENST00000320580.4	+	21	2337	c.2304C>T	c.(2302-2304)gaC>gaT	p.D768D	PACS1_ENST00000529757.1_Silent_p.D304D|PACS1_ENST00000524815.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	768					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)	p.D768D(1)	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						GCGATGGGGACGATTCTCCTG	0.617																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											134	115	121					11																	66006623		2200	4295	6495	SO:0001819	synonymous_variant	0			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.2304C>T	11.37:g.66006623C>T			Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	pfam_Phosphofurin_acidic_CS-1	p.D768	ENST00000320580.4	37	c.2304	CCDS8129.1	11																																																																																			PACS1	-	pfam_Phosphofurin_acidic_CS-1	ENSG00000175115		0.617	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2	-	0	48	0	C	NM_018026		66006623	1	tier1	-	no_errors	ENST00000320580	ensembl	human	known	74_37	silent	28.33	43	17	SNP	0.086	T	T	66006623	C	T	66006623	2	4	172	1	0	0	0	0	0	0	0	1	11411	535	19	1		1	PACS1	11	66006623	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	631129	66006623	68999893	118	43262											
NUMA1	4926	genome.wustl.edu	37	chr11	71718357	71718357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccaggggggcctgactccGagcagggatgggagtgaagt	8	6	18	9	1	0	2	0	2	0	0	2	5	2	4	3	5	1	1	3	5	1	0	rs529393250		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:71718357G>A	ENST00000393695.3	-	21	5672	c.5341C>T	c.(5341-5343)Cgg>Tgg	p.R1781W	NUMA1_ENST00000351960.6_Missense_Mutation_p.R645W|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1767W	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						GCCTGACTCCGAGCAGGGATG	0.652			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													28	32	31					11																	71718357		2200	4293	6493	SO:0001583	missense	0			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.5341C>T	11.37:g.71718357G>A	ENSP00000377298:p.Arg1781Trp			Missense_Mutation	SNP	superfamily_Prefoldin	p.R1781W	ENST00000393695.3	37	c.5341	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452332	0.84209	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.32515	1.45;1.88;1.86	4.91	4.91	0.64330	.	0.000000	0.50627	D	0.000104	T	0.43875	0.1267	L	0.29908	0.895	0.41113	D	0.985751	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.942;0.997;0.917;0.984	T	0.39078	-0.9631	10	0.72032	D	0.01	.	15.0138	0.71567	0.0:0.1429:0.857:0.0	.	1787;1767;1781;645	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	W	645;1767;1781;1330;754	ENSP00000260051:R645W;ENSP00000351851:R1767W;ENSP00000377298:R1781W	ENSP00000260051:R645W	R	-	1	2	NUMA1	71396005	0.835000	0.29415	1.000000	0.80357	0.982000	0.71751	2.624000	0.46444	2.702000	0.92279	0.655000	0.94253	CGG	NUMA1	-	NULL	ENSG00000137497		0.652	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	-	0	30	0	G			71718357	-1	tier1	-	no_errors	ENST00000393695	ensembl	human	known	74_37	missense	30.56	24	11	SNP	1.000	A	A	71718357	G	A	71718357	3	1	172	1	0	0	0	0	1	0	0	0	10789	1057	37	1	1034	1	NUMA1	11	71718357	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	5711734	71718357	63288159	119	43263											
C2CD3	26005	genome.wustl.edu	37	chr11	73881821	73881821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgcccccagacccttggCcttttcgttgtttcatgatg	4	14	10	13	1	1	2	1	1	0	1	2	2	1	2	4	2	1	3	4	2	0	5			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:73881821C>A	ENST00000334126.7	-	1	243	c.17G>T	c.(16-18)gGc>gTc	p.G6V	PPME1_ENST00000398427.4_5'Flank|PPME1_ENST00000328257.8_5'Flank|C2CD3_ENST00000313663.7_Missense_Mutation_p.G6V|C2CD3_ENST00000539061.1_Missense_Mutation_p.G6V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	6					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)					AGACCCTTGGCCTTTTCGTTG	0.542																																																	0													96	82	86					11																	73881821		2200	4293	6493	SO:0001583	missense	0			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.17G>T	11.37:g.73881821C>A	ENSP00000334379:p.Gly6Val		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.G6V	ENST00000334126.7	37	c.17		11	.	.	.	.	.	.	.	.	.	.	C	8.775	0.926866	0.18056	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T;T	0.77877	-1.13;-1.13;-1.13	5.47	1.31	0.21738	.	0.642926	0.15651	N	0.251392	T	0.58509	0.2127	N	0.13043	0.29	0.43355	D	0.995426	B;B	0.20550	0.046;0.024	B;B	0.18263	0.014;0.021	T	0.41233	-0.9520	10	0.36615	T	0.2	0.0486	8.1699	0.31249	0.2875:0.4113:0.3012:0.0	.	6;6	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	V	6	ENSP00000334379:G6V;ENSP00000323339:G6V;ENSP00000445933:G6V	ENSP00000289350:G6V	G	-	2	0	C2CD3	73559469	0.969000	0.33509	0.341000	0.25589	0.321000	0.28281	0.034000	0.13776	-0.014000	0.14175	0.561000	0.74099	GGC	C2CD3	-	NULL	ENSG00000168014		0.542	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		-	0	52	0	C	NM_015531		73881821	-1	tier1	-	no_errors	ENST00000334126	ensembl	human	known	74_37	missense	21.74	54	15	SNP	0.553	A	A	73881821	C	A	73881821	3	1	172	1	0	0	0	0	1	0	0	0	2161	739	26	3	5998	3	C2CD3	11	73881821	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	2163464	73881821	61124695	120	43264											
FAT3	120114	genome.wustl.edu	37	chr11	92568181	92568181	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttaatgacaaccctccCaagttcagccaagacgtcta	13	9	7	12	1	2	2	1	1	1	1	3	3	3	2	3	0	2	2	3	0	5	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:92568181C>A	ENST00000298047.6	+	14	10034	c.10017C>A	c.(10015-10017)ccC>ccA	p.P3339P	FAT3_ENST00000525166.1_Silent_p.P3189P|FAT3_ENST00000409404.2_Silent_p.P3339P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3339	Cadherin 30. {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)				ACAACCCTCCCAAGTTCAGCC	0.527										TCGA Ovarian(4;0.039)																																							0													54	55	55					11																	92568181		1961	4164	6125	SO:0001819	synonymous_variant	0			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.10017C>A	11.37:g.92568181C>A			B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P3339	ENST00000298047.6	37	c.10017		11																																																																																			FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.527	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	50	0	C	NM_001008781		92568181	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	29.55	31	13	SNP	0.007	A	A	92568181	C	A	92568181	2	1	172	1	0	0	0	0	0	0	0	1	5713	581	21	3		3	FAT3	11	92568181	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	18686360	92568181	42438335	121	43265											
RDX	5962	genome.wustl.edu	37	chr11	110128868	110128868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttcatgccagttctgtaTtctttcttcccactgttctt	4	21	4	12	0	6	0	1	0	5	0	7	0	7	0	2	0	1	3	2	0	1	9			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:110128868T>C	ENST00000343115.4	-	6	833	c.514A>G	c.(514-516)Ata>Gta	p.I172V	RDX_ENST00000528498.1_Missense_Mutation_p.I172V|RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.I36V|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.I172V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	172	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CAGTTCTGTATTCTTTCTTCC	0.299																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												0													184	169	174					11																	110128868		2201	4297	6498	SO:0001583	missense	0			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.514A>G	11.37:g.110128868T>C	ENSP00000342830:p.Ile172Val		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.I172V	ENST00000343115.4	37	c.514	CCDS8343.1	11	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677412	0.88445	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.6	5.6	0.85130	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	0.87807	0.6270	L	0.60012	1.86	0.80722	D	1	P;D;P	0.63880	0.814;0.993;0.94	P;D;P	0.85130	0.64;0.997;0.633	D	0.88126	0.2835	10	0.52906	T	0.07	.	15.7788	0.78243	0.0:0.0:0.0:1.0	.	36;172;172	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	V	172;172;172;172;36	ENSP00000432112:I172V;ENSP00000384136:I172V;ENSP00000342830:I172V;ENSP00000445826:I36V	ENSP00000342830:I172V	I	-	1	0	RDX	109634078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.954000	0.87848	2.123000	0.65237	0.528000	0.53228	ATA	RDX	-	pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin_like,pfscan_FERM_domain	ENSG00000137710		0.299	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2		0	29	0	T	NM_002906		110128868	-1			no_errors	ENST00000530749	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	C	C	110128868	T	C	110128868	3	2	172	1	0	0	0	0	1	0	0	0	13243	1493	52	4	1273	4	RDX	11	110128868	Missense_Mutation	SNP	T	TCGA-VR-AA4D-01A-11D-A37C-09	17560687	110128868	24877648	122	43266											
PRDM10	56980	genome.wustl.edu	37	chr11	129788514	129788514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagtctgtggacgtgatgcGgggcttgaacgtcttggagc	6	11	17	7	3	2	2	0	2	2	0	2	4	2	4	0	4	3	2	0	4	2	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr11:129788514G>A	ENST00000360871.3	-	14	2365	c.2134C>T	c.(2134-2136)Cgc>Tgc	p.R712C	PRDM10_ENST00000304538.6_Missense_Mutation_p.R626C|PRDM10_ENST00000358825.5_Missense_Mutation_p.R716C|PRDM10_ENST00000526082.1_Missense_Mutation_p.R630C|PRDM10_ENST00000528746.1_Missense_Mutation_p.R686C|PRDM10_ENST00000423662.2_Missense_Mutation_p.R630C	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	716					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GACGTGATGCGGGGCTTGAAC	0.597																																																	0													262	242	249					11																	129788514		2201	4297	6498	SO:0001583	missense	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2134C>T	11.37:g.129788514G>A	ENSP00000354118:p.Arg712Cys		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R716C	ENST00000360871.3	37	c.2146	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482414	0.84747	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.11712	2.77;2.8;2.77;2.78;2.85;2.75;2.85	5.79	5.79	0.91817	.	0.056590	0.64402	D	0.000001	T	0.20088	0.0483	N	0.22421	0.69	0.54753	D	0.999985	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	P;D;P;D;D;D	0.65773	0.869;0.938;0.869;0.938;0.925;0.938	T	0.00790	-1.1565	10	0.56958	D	0.05	-26.8576	16.3064	0.82849	0.0:0.0:0.8673:0.1327	.	626;712;716;630;626;630	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	C	716;626;712;630;686;630;429	ENSP00000351686:R716C;ENSP00000302669:R626C;ENSP00000354118:R712C;ENSP00000398431:R630C;ENSP00000431262:R686C;ENSP00000432237:R630C;ENSP00000435940:R429C	ENSP00000302669:R626C	R	-	1	0	PRDM10	129293724	1.000000	0.71417	0.421000	0.26609	0.976000	0.68499	5.521000	0.67086	2.733000	0.93635	0.655000	0.94253	CGC	PRDM10	-	NULL	ENSG00000170325		0.597	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	-	0	60	0	G	NM_199437		129788514	-1	tier1	-	no_errors	ENST00000358825	ensembl	human	known	74_37	missense	22.67	58	17	SNP	0.904	A	A	129788514	G	A	129788514	3	1	172	1	0	0	0	0	1	0	0	0	12493	1116	39	1	1368	1	PRDM10	11	129788514	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	19659646	129788514	5218002	123	43267											
C12orf4	57102	genome.wustl.edu	37	chr12	4600369	4600369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacttgaacacaagttccGctctccttaagcaccagggt	11	9	7	14	1	1	1	0	1	1	0	3	1	2	1	3	1	2	3	3	1	3	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:4600369G>A	ENST00000261250.3	-	12	1559	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V	C12orf4_ENST00000545746.1_Missense_Mutation_p.A491V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	491										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CACAAGTTCCGCTCTCCTTAA	0.368																																																	0													171	154	159					12																	4600369		2203	4300	6503	SO:0001583	missense	0			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1472C>T	12.37:g.4600369G>A	ENSP00000261250:p.Ala491Val		D3DUQ8|Q6MZH5	Missense_Mutation	SNP	pfam_DUF2362	p.A491V	ENST00000261250.3	37	c.1472	CCDS8528.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.182679	0.94885	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.82917	0.5141	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84972	0.0883	9	0.87932	D	0	.	19.0916	0.93228	0.0:0.0:1.0:0.0	.	491	Q9NQ89	CL004_HUMAN	V	491	.	ENSP00000261250:A491V	A	-	2	0	C12orf4	4470630	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	8.907000	0.92634	2.576000	0.86940	0.585000	0.79938	GCG	C12orf4	-	pfam_DUF2362	ENSG00000047621		0.368	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf4	HGNC	protein_coding	OTTHUMT00000398992.1	-	0	58	0	G	NM_020374		4600369	-1	tier1	-	no_errors	ENST00000261250	ensembl	human	known	74_37	missense	17.91	55	12	SNP	1.000	A	A	4600369	G	A	4600369	3	1	172	1	0	0	0	0	1	0	0	0	1690	1087	38	1	198	1	C12orf4	12	4600369	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09		4600369	129251526	124	43268											
SLC4A8	9498	genome.wustl.edu	37	chr12	51845973	51845973	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagagcatgtgcctcatGagctgtttacagagctggat	11	11	12	7	0	1	4	1	2	0	2	1	5	1	5	1	1	5	4	1	1	2	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:51845973G>T	ENST00000453097.2	+	4	560	c.343G>T	c.(343-345)Gag>Tag	p.E115*	SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.E142*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.E62*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.E62*|SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.E62*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.E115*(2)|p.E62*(1)		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)		TGTGCCTCATGAGCTGTTTAC	0.478																																																	3	Substitution - Nonsense(3)	urinary_tract(3)											260	244	249					12																	51845973		2203	4300	6503	SO:0001587	stop_gained	0			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.343G>T	12.37:g.51845973G>T	ENSP00000405812:p.Glu115*			Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E115*	ENST00000453097.2	37	c.343	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.835927	0.98516	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	.	.	.	5.62	5.62	0.85841	.	0.143561	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	17.5318	0.87817	0.0:0.0:1.0:0.0	.	.	.	.	X	62;142;115;62;115;62;62;62	.	ENSP00000315789:E115X	E	+	1	0	SLC4A8	50132240	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GAG	SLC4A8	-	superfamily_PTrfase/Anion_transptr	ENSG00000050438		0.478	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1		0	40	0	G	NM_004858		51845973	1			no_errors	ENST00000453097	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	1.000	T	T	51845973	G	T	51845973	4	4	172	1	0	0	0	0	0	1	0	0	14704	1291	45	3	357	3	SLC4A8	12	51845973	Nonsense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	47245604	51845973	82005922	125	43269											
TMEM194A	23306	genome.wustl.edu	37	chr12	57456971	57456971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagagcaatgatgataatgGcaagggcaatatgtggtatc	16	9	12	4	0	0	3	0	2	0	1	1	3	0	3	0	3	1	4	0	3	7	3	rs537356134	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:57456971G>A	ENST00000300128.4	-	7	934	c.911C>T	c.(910-912)gCc>gTc	p.A304V	TMEM194A_ENST00000379391.3_Missense_Mutation_p.A231V	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	304						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GATGATAATGGCAAGGGCAAT	0.443																																																	0													274	236	248					12																	57456971		2203	4300	6503	SO:0001583	missense	0			AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"transmembrane protein 194"	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.911C>T	12.37:g.57456971G>A	ENSP00000300128:p.Ala304Val		Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	pfam_TMEM194	p.A304V	ENST00000300128.4	37	c.911	CCDS44927.1	12	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938710	0.73557	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.49720	0.77;0.77	5.61	2.69	0.31865	Domain of unknown function DUF2215 (1);	0.219510	0.46758	D	0.000269	T	0.47358	0.1441	L	0.40543	1.245	0.45118	D	0.998134	P;P	0.52316	0.768;0.952	P;P	0.49276	0.58;0.605	T	0.43475	-0.9389	10	0.49607	T	0.09	-1.681	14.9178	0.70812	0.0:0.4109:0.5891:0.0	.	304;231	O14524;O14524-2	T194A_HUMAN;.	V	231;304	ENSP00000368701:A231V;ENSP00000300128:A304V	ENSP00000300128:A304V	A	-	2	0	TMEM194A	55743238	0.959000	0.32827	0.399000	0.26333	0.983000	0.72400	2.150000	0.42254	0.274000	0.22072	-0.181000	0.13052	GCC	TMEM194A	-	pfam_TMEM194	ENSG00000166881		0.443	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM194A	HGNC	protein_coding	OTTHUMT00000411272.1	-	0	48	0	G	NM_015257		57456971	-1	tier1	-	no_errors	ENST00000300128	ensembl	human	known	74_37	missense	48.21	29	27	SNP	0.998	A	A	57456971	G	A	57456971	3	1	172	1	0	0	0	0	1	0	0	0	16163	1203	42	3	435	3	TMEM194A	12	57456971	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	5610998	57456971	76394924	126	43270											
XRCC6BP1	91419	genome.wustl.edu	37	chr12	58335569	58335569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtctcttgccaggtcttcCccgagcgtctggcccagggg	4	9	13	15	3	3	0	0	0	3	0	5	1	4	0	4	4	2	0	4	4	0	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:58335569C>T	ENST00000300145.3	+	1	210	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	29					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						CCAGGTCTTCCCCGAGCGTCT	0.667																																																	0													14	20	18					12																	58335569		1904	4114	6018	SO:0001583	missense	0			AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"Ku70 binding protein 3"					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.85C>T	12.37:g.58335569C>T	ENSP00000300145:p.Pro29Ser		Q1RLM4|Q96E81	Missense_Mutation	SNP	pfam_Peptidase_M76_ATP23	p.P29S	ENST00000300145.3	37	c.85	CCDS41802.1	12	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463164	0.43736	.	.	ENSG00000166896	ENST00000300145	T	0.48522	0.81	4.8	0.816	0.18768	.	0.112189	0.64402	N	0.000008	T	0.28067	0.0692	N	0.19112	0.55	0.47094	D	0.999311	B	0.09022	0.002	B	0.10450	0.005	T	0.04427	-1.0952	10	0.54805	T	0.06	.	6.4658	0.21981	0.1274:0.6583:0.0:0.2143	.	29	Q9Y6H3	ATP23_HUMAN	S	29	ENSP00000300145:P29S	ENSP00000300145:P29S	P	+	1	0	XRCC6BP1	56621836	1.000000	0.71417	0.041000	0.18516	0.009000	0.06853	2.452000	0.44961	0.052000	0.16007	0.650000	0.86243	CCC	XRCC6BP1	-	NULL	ENSG00000166896		0.667	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC6BP1	HGNC	protein_coding	OTTHUMT00000409390.1	-	0	89	0	C	NM_033276		58335569	1	tier1	-	no_errors	ENST00000300145	ensembl	human	known	74_37	missense	28.57	60	24	SNP	1.000	T	T	58335569	C	T	58335569	3	4	172	1	0	0	0	0	1	0	0	0	17507	623	22	3	87	3	XRCC6BP1	12	58335569	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	878598	58335569	75516326	127	43271											
CEP290	80184	genome.wustl.edu	37	chr12	88487680	88487681	+	Frame_Shift_Ins	INS	-	-	T																															cttcatttccagcatagttaINSttttttttgaaatggaaaca																								rs386834154|rs62640570		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:88487680_88487681insT	ENST00000552810.1	-	28	3518_3519	c.3175_3176insA	c.(3175-3177)atafs	p.I1059fs	CEP290_ENST00000547691.2_Frame_Shift_Ins_p.I119fs|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I1061fs|CEP290_ENST00000397838.3_Frame_Shift_Ins_p.I119fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1059					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						CAGCATAGTTATTTTTTTTGAA	0.337																																																	0			GRCh37	CD062132|CD073593|CI062250	CEP290	D|I	rs62640570			0,3536		0,0,1768				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.7	1		dbSNP_129	59	2,7824		0,2,3911	no	frameshift	CEP290	NM_025114.3		0,2,5679	A1A1,A1R,RR		0.0256,0.0,0.0176				2,11360				SO:0001589	frameshift_variant	0			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.3176dupA	12.37:g.88487688_88487688dupT	ENSP00000448012:p.Ile1059fs		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Ins	INS	NULL	p.I1061fs	ENST00000552810.1	37	c.3182_3181	CCDS55858.1	12																																																																																			CEP290	-	NULL	ENSG00000198707		0.337	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1		0	60	0	-	NM_025114		88487681	-1	tier1		no_errors	ENST00000309041	ensembl	human	known	74_37	frame_shift_ins	5.13	37	2	INS	1.000:1.000	T	T	88487681	-	T	88487680	7	5	172	1	0	1	1	0	0	0	0	0	3260	449	16	0	4371	0	CEP290	12	88487680	Frame_Shift_Ins	INS	-	TCGA-VR-AA4D-01A-11D-A37C-09	30152111	88487680	45364215	128	43272											
METAP2	10988	genome.wustl.edu	37	chr12	95877035	95877037	+	In_Frame_Del	DEL	AAG	AAG	-																															caactggaaagaagaagaaaAagaagaagaagaagagagga																										TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:95877035_95877037delAAG	ENST00000323666.5	+	3	533_535	c.304_306delAAG	c.(304-306)aagdel	p.K106del	METAP2_ENST00000261220.9_Intron|METAP2_ENST00000550777.1_In_Frame_Del_p.K70del|METAP2_ENST00000551840.1_In_Frame_Del_p.K105del|METAP2_ENST00000546753.1_In_Frame_Del_p.K106del	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						gaagaagaaaaagaagaagaaga	0.389																																																	0																																										SO:0001651	inframe_deletion	0			U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"Peptidase M"	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.304_306delAAG	12.37:g.95877044_95877046delAAG	ENSP00000325312:p.Lys106del			In_Frame_Del	DEL	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2	p.K105in_frame_del	ENST00000323666.5	37	c.304_306	CCDS9052.1	12																																																																																			METAP2	-	NULL	ENSG00000111142		0.389	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METAP2	HGNC	protein_coding	OTTHUMT00000408296.1		0	51	0	AAG	NM_006838		95877037	1	tier1		no_errors	ENST00000323666	ensembl	human	known	74_37	in_frame_del	5.71	33	2	DEL	1.000:1.000:1.000	-	-	95877037	AAG	-	95877035	7	5	172	1	0	1	0	1	0	0	0	0	9525	15	1	0	314	0	METAP2	12	95877035	In_Frame_Del	DEL	AAG	TCGA-VR-AA4D-01A-11D-A37C-09	7389355	95877035	37974860	129	43273											
ANKS1B	56899	genome.wustl.edu	37	chr12	99139573	99139573	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcttggcttcttggcccgGctccacaatccacggtagat	6	11	9	15	2	2	1	0	0	2	1	4	1	4	1	4	4	0	3	4	4	2	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:99139573G>A	ENST00000547776.2	-	25	3672				ANKS1B_ENST00000333732.7_Missense_Mutation_p.P272S|ANKS1B_ENST00000341752.7_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000550693.2_Missense_Mutation_p.P433S|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P433S|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P493S|ANKS1B_ENST00000549025.2_Missense_Mutation_p.P340S|ANKS1B_ENST00000547446.1_Missense_Mutation_p.P377S|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P409S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							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)		TCTTGGCCCGGCTCCACAATC	0.547																																																	0													101	103	102					12																	99139573		1895	4125	6020	SO:0001627	intron_variant	0			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.3672+5559C>T	12.37:g.99139573G>A			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_SAM/pointed,smart_SAM,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SAM	p.P493S	ENST00000547776.2	37	c.1477	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367116	0.61513	.	.	ENSG00000185046	ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000333732;ENST00000546568;ENST00000332712;ENST00000407362	T;T;T;D;T;T;T	0.82619	-1.43;-0.6;-1.48;-1.63;-1.05;-1.42;-1.14	4.66	4.66	0.58398	.	.	.	.	.	D	0.86936	0.6053	L	0.33485	1.01	0.40954	D	0.984565	D;D;D;D;D;P;P;D;D	0.71674	0.996;0.998;0.997;0.998;0.997;0.911;0.911;0.998;0.966	D;D;D;D;D;P;P;D;P	0.80764	0.986;0.994;0.986;0.994;0.986;0.756;0.674;0.994;0.747	D	0.88893	0.3347	9	0.62326	D	0.03	.	17.9099	0.88930	0.0:0.0:1.0:0.0	.	377;272;273;433;382;457;409;493;340	F8VPM3;F8VR14;B7Z9I9;Q7Z6G8-5;B1VKB5;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9	.;.;.;.;.;.;.;.;.	S	433;340;493;377;272;409;433;333	ENSP00000447999:P433S;ENSP00000447312:P340S;ENSP00000448203:P493S;ENSP00000450015:P377S;ENSP00000331256:P272S;ENSP00000448205:P409S;ENSP00000332683:P433S	ENSP00000332683:P433S	P	-	1	0	ANKS1B	97663704	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.303000	0.78871	2.267000	0.75376	0.549000	0.68633	CCG	ANKS1B	-	NULL	ENSG00000185046		0.547	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	-	0	24	0	G	NM_020140		99139573	-1	tier1	-	no_errors	ENST00000549493	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	A	A	99139573	G	A	99139573	1	1	172	0	1	0	0	0	0	0	0	0	689	1203	42	3		3	ANKS1B	12	99139573	Intron	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	3262538	99139573	34712322	130	43274											
STAB2	55576	genome.wustl.edu	37	chr12	104111582	104111582	+	Missense_Mutation	SNP	A	A	G	1	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	tttgccagcatacactggagAtggaaaggtctgcacactca	12	9	10	10	0	2	1	1	0	1	1	2	3	2	2	1	3	4	2	1	3	2	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:104111582A>G	ENST00000388887.2	+	44	4850	c.4646A>G	c.(4645-4647)gAt>gGt	p.D1549G		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						TACACTGGAGATGGAAAGGTC	0.542																																																	0													322	270	288					12																	104111582		2203	4300	6503	SO:0001583	missense	0			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.4646A>G	12.37:g.104111582A>G	ENSP00000373539:p.Asp1549Gly			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.D1549G	ENST00000388887.2	37	c.4646	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	A	14.65	2.597552	0.46318	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.92397	-3.03	5.86	5.86	0.93980	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96852	0.8972	M	0.92077	3.27	0.44562	D	0.997525	D	0.69078	0.997	D	0.72338	0.977	D	0.97440	1.0021	10	0.59425	D	0.04	.	15.2494	0.73532	1.0:0.0:0.0:0.0	.	1549	Q8WWQ8	STAB2_HUMAN	G	1549;236	ENSP00000373539:D1549G	ENSP00000258495:D236G	D	+	2	0	STAB2	102635712	1.000000	0.71417	0.072000	0.20136	0.012000	0.07955	6.338000	0.72963	2.240000	0.73641	0.533000	0.62120	GAT	STAB2	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000136011		0.542	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0	54	0	A			104111582	1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	27.12	43	16	SNP	0.983	G	G	104111582	A	G	104111582	3	3	172	1	0	0	0	0	1	0	0	0	15285	333	12	4	4820	4	STAB2	12	104111582	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	4972009	104111582	29740313	131	43275											
C12orf51	283450	genome.wustl.edu	37	chr12	112690234	112690234	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagattcaagtacctgagcGcgaactgtgcaagcaaagcc	13	8	10	10	2	1	2	1	1	0	1	1	3	1	2	2	0	6	3	2	0	6	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr12:112690234G>T	ENST00000430131.2	-	22	3425	c.2280C>A	c.(2278-2280)cgC>cgA	p.R760R	HECTD4_ENST00000550722.1_Silent_p.R1036R|HECTD4_ENST00000377560.5_Silent_p.R1010R			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	760					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)										GTACCTGAGCGCGAACTGTGC	0.463																																																	0													153	143	146					12																	112690234		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2280C>A	12.37:g.112690234G>T			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.R1010	ENST00000430131.2	37	c.3030		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.463	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	38	0	G	NM_173813		112690234	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	22.22	35	10	SNP	1.000	T	T	112690234	G	T	112690234	2	4	172	1	0	0	0	0	0	0	0	1	1701	1074	38	2		2	C12orf51	12	112690234	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	8578652	112690234	21161661	132	43276											
FAM124A	220108	genome.wustl.edu	37	chr13	51854620	51854620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagaagtttcctaaacctgGcagagtacatcatgcctccg	12	10	8	11	1	1	2	1	0	0	2	3	2	3	2	4	1	3	3	4	1	5	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr13:51854620G>A	ENST00000322475.8	+	4	1004	c.869G>A	c.(868-870)gGc>gAc	p.G290D	FAM124A_ENST00000280057.6_Missense_Mutation_p.G326D	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	290										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)		CCTAAACCTGGCAGAGTACAT	0.522																																																	0													95	83	87					13																	51854620		2203	4300	6503	SO:0001583	missense	0			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.869G>A	13.37:g.51854620G>A	ENSP00000324625:p.Gly290Asp		A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	NULL	p.G326D	ENST00000322475.8	37	c.977	CCDS55900.1	13	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302025	0.23736	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.42513	0.98;0.97	5.12	2.26	0.28386	.	1.264760	0.05364	N	0.534187	T	0.27205	0.0667	N	0.22421	0.69	0.09310	N	1	B;B	0.33583	0.418;0.218	B;B	0.28139	0.053;0.086	T	0.22836	-1.0205	10	0.44086	T	0.13	-19.7662	4.6532	0.12605	0.2692:0.0:0.5757:0.1551	.	290;326	Q86V42;Q86V42-2	F124A_HUMAN;.	D	290;326	ENSP00000324625:G290D;ENSP00000280057:G326D	ENSP00000280057:G326D	G	+	2	0	FAM124A	50752621	0.745000	0.28261	0.002000	0.10522	0.006000	0.05464	0.968000	0.29357	0.545000	0.28902	0.655000	0.94253	GGC	FAM124A	-	NULL	ENSG00000150510		0.522	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3	-	0	39	0	G	NM_145019		51854620	1	tier1	-	no_errors	ENST00000280057	ensembl	human	known	74_37	missense	23.66	71	22	SNP	0.000	A	A	51854620	G	A	51854620	3	1	172	1	0	0	0	0	1	0	0	0	5444	1203	42	3	995	3	FAM124A	13	51854620	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09		51854620	63315258	133	43277											
MYCBP2	23077	genome.wustl.edu	37	chr13	77739439	77739439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggctaaattcatatccaAttgcaaaacacttaaaacca	18	9	4	10	0	1	0	1	0	0	0	2	0	2	0	2	1	3	2	2	1	8	5	rs373012467		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr13:77739439A>G	ENST00000544440.2	-	42	6331	c.6314T>C	c.(6313-6315)aTt>aCt	p.I2105T	MYCBP2_ENST00000407578.2_Missense_Mutation_p.I2143T|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.I2105T					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)		TTCATATCCAATTGCAAAACA	0.353																																																	0								A	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	118	117	117		6428	5.5	1	13		117	0,8600		0,0,4300	no	missense	MYCBP2	NM_015057.4	89	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	2143/4679	77739439	1,13005	2203	4300	6503	SO:0001583	missense	0			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.6314T>C	13.37:g.77739439A>G	ENSP00000444596:p.Ile2105Thr			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.I2143T	ENST00000544440.2	37	c.6428		13	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341307	0.41498	2.27E-4	0.0	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29142	1.59;1.58;1.59	5.53	5.53	0.82687	.	0.063319	0.64402	D	0.000005	T	0.15912	0.0383	N	0.03608	-0.345	0.45899	D	0.998742	B	0.27498	0.18	B	0.22753	0.041	T	0.09662	-1.0664	10	0.36615	T	0.2	.	15.6712	0.77279	1.0:0.0:0.0:0.0	.	2105	O75592	MYCB2_HUMAN	T	2105;2143;2105	ENSP00000349892:I2105T;ENSP00000384288:I2143T;ENSP00000444596:I2105T	ENSP00000349892:I2105T	I	-	2	0	MYCBP2	76637440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.096000	0.63516	0.528000	0.53228	ATT	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.353	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	35	0	A	NM_015057		77739439	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	27.03	54	20	SNP	1.000	G	G	77739439	A	G	77739439	3	3	172	1	0	0	0	0	1	0	0	0	10056	101	4	4	7776	4	MYCBP2	13	77739439	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	25884819	77739439	37430439	134	43278											
NFATC4	4776	genome.wustl.edu	37	chr14	24838902	24838902	+	Frame_Shift_Del	DEL	G	G	-																															tgaggctgggaggaccaggaGggggtgctgggggtgctggg																										TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr14:24838902delG	ENST00000250373.4	+	2	439	c.298delG	c.(298-300)gggfs	p.G101fs	NFATC4_ENST00000554050.1_Frame_Shift_Del_p.G101fs|NFATC4_ENST00000413692.2_Frame_Shift_Del_p.G164fs|NFATC4_ENST00000557451.1_Frame_Shift_Del_p.G31fs|NFATC4_ENST00000555590.1_Frame_Shift_Del_p.G114fs|NFATC4_ENST00000424781.2_Frame_Shift_Del_p.G114fs|NFATC4_ENST00000556279.1_Frame_Shift_Del_p.G133fs|NFATC4_ENST00000554591.1_Frame_Shift_Del_p.G164fs|NFATC4_ENST00000556169.1_Frame_Shift_Del_p.G89fs|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Frame_Shift_Del_p.G133fs|NFATC4_ENST00000553879.1_Frame_Shift_Del_p.G31fs|NFATC4_ENST00000539237.2_Frame_Shift_Del_p.G133fs|NFATC4_ENST00000554966.1_Frame_Shift_Del_p.G114fs|NFATC4_ENST00000553708.1_Frame_Shift_Del_p.G101fs|NFATC4_ENST00000555453.1_Frame_Shift_Del_p.G89fs|NFATC4_ENST00000422617.3_Frame_Shift_Del_p.G89fs|NFATC4_ENST00000554344.1_Frame_Shift_Del_p.G31fs|NFATC4_ENST00000554661.1_Frame_Shift_Del_p.G31fs	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	101	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGGACCAGGAgggggtgctgg	0.716																																																	0													14	17	16					14																	24838902		2179	4278	6457	SO:0001589	frameshift_variant	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.298delG	14.37:g.24838902delG	ENSP00000250373:p.Gly101fs		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Frame_Shift_Del	DEL	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.G164fs	ENST00000250373.4	37	c.487	CCDS9629.1	14																																																																																			NFATC4	-	NULL	ENSG00000100968		0.716	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6		0	18	0	G	NM_004554		24838902	1	tier1		no_errors	ENST00000413692	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.035	-	-	24838902	G	-	24838902	7	5	172	1	0	1	0	1	0	0	0	0	10404	1000	35	0	497	0	NFATC4	14	24838902	Frame_Shift_Del	DEL	G	TCGA-VR-AA4D-01A-11D-A37C-09		24838902	82510638	135	43279											
NFATC4	4776	genome.wustl.edu	37	chr14	24841738	24841738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcctagagcccaccacCgggcccactatgagacagaa	13	4	9	15	1	0	3	0	1	0	3	0	4	0	3	5	1	3	0	5	1	4	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr14:24841738C>T	ENST00000250373.4	+	3	1429	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	NFATC4_ENST00000554050.1_Missense_Mutation_p.R430W|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000413692.2_Missense_Mutation_p.R493W|NFATC4_ENST00000557451.1_Missense_Mutation_p.R360W|NFATC4_ENST00000555590.1_Missense_Mutation_p.R443W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R443W|NFATC4_ENST00000556279.1_Missense_Mutation_p.R462W|NFATC4_ENST00000554591.1_Missense_Mutation_p.R493W|NFATC4_ENST00000556169.1_Missense_Mutation_p.R418W|NFATC4_ENST00000553469.1_Missense_Mutation_p.R462W|NFATC4_ENST00000553879.1_Missense_Mutation_p.R360W|NFATC4_ENST00000539237.2_Missense_Mutation_p.R462W|NFATC4_ENST00000554966.1_Missense_Mutation_p.R443W|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000553708.1_Missense_Mutation_p.R430W|NFATC4_ENST00000555453.1_Missense_Mutation_p.R418W|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000422617.3_Missense_Mutation_p.R418W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R360W|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000554661.1_Missense_Mutation_p.R360W	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	430	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGCCCACCACCGGGCCCACTA	0.622																																																	0													47	48	47					14																	24841738		2203	4300	6503	SO:0001583	missense	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1288C>T	14.37:g.24841738C>T	ENSP00000250373:p.Arg430Trp		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.R493W	ENST00000250373.4	37	c.1477	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846063	0.51164	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554779;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;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;0.64;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.01	2.09	0.27110	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.060819	0.64402	D	0.000006	D	0.83741	0.5320	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.956;0.97;1.0;0.979;1.0;1.0;0.979;0.992;0.992;0.992;1.0;1.0;0.995;1.0;1.0	T	0.82989	-0.0183	10	0.87932	D	0	-7.5645	9.0518	0.36380	0.2966:0.5601:0.1433:0.0	.	418;418;462;462;443;443;443;493;493;418;360;462;407;493;430	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	W	493;493;443;443;443;462;462;462;430;122;430;430;360;360;360;418;360;418;418	ENSP00000388910:R493W;ENSP00000452039:R493W;ENSP00000451224:R443W;ENSP00000450644:R443W;ENSP00000388668:R443W;ENSP00000439350:R462W;ENSP00000452270:R462W;ENSP00000451502:R462W;ENSP00000451151:R430W;ENSP00000451992:R122W;ENSP00000250373:R430W;ENSP00000450590:R430W;ENSP00000452349:R360W;ENSP00000450469:R360W;ENSP00000450733:R360W;ENSP00000451454:R418W;ENSP00000451284:R360W;ENSP00000396788:R418W;ENSP00000450686:R418W	ENSP00000250373:R430W	R	+	1	2	NFATC4	23911578	0.993000	0.37304	1.000000	0.80357	0.992000	0.81027	0.409000	0.21082	0.259000	0.21709	-0.169000	0.13324	CGG	NFATC4	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000100968		0.622	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	-	0	41	0	C	NM_004554		24841738	1	tier1	-	no_errors	ENST00000413692	ensembl	human	known	74_37	missense	39.22	31	20	SNP	1.000	T	T	24841738	C	T	24841738	3	4	172	1	0	0	0	0	1	0	0	0	10404	643	23	1	1491	1	NFATC4	14	24841738	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	2836	24841738	82507802	136	43280											
GABRB3	2562	genome.wustl.edu	37	chr15	26866507	26866507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgaagacggatcatgcGgtttttcactgtcactccat	9	12	11	9	2	3	2	3	1	0	1	4	3	4	3	1	3	1	1	1	3	1	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:26866507G>A	ENST00000311550.5	-	4	526	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	GABRB3_ENST00000541819.2_Missense_Mutation_p.R195C|GABRB3_ENST00000400188.3_Missense_Mutation_p.R68C|GABRB3_ENST00000545868.1_Missense_Mutation_p.R54C|GABRB3_ENST00000299267.4_Missense_Mutation_p.R139C	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	139					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)	CGGATCATGCGGTTTTTCACT	0.493																																																	0													159	136	144					15																	26866507		2203	4300	6503	SO:0001583	missense	0				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.415C>T	15.37:g.26866507G>A	ENSP00000308725:p.Arg139Cys		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R139C	ENST00000311550.5	37	c.415	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689767	0.88735	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.77	4.8	0.61643	Neurotransmitter-gated ion-channel ligand-binding (3);	0.050172	0.85682	D	0.000000	D	0.87434	0.6176	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.982;0.989	D	0.88558	0.3121	10	0.87932	D	0	.	14.7909	0.69841	0.0:0.0:0.8554:0.1446	.	195;139;139	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	C	139;195;139;68;54;54	ENSP00000308725:R139C;ENSP00000442408:R195C;ENSP00000299267:R139C;ENSP00000383049:R68C;ENSP00000439169:R54C;ENSP00000452272:R54C	ENSP00000299267:R139C	R	-	1	0	GABRB3	24417600	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.427000	0.73378	2.748000	0.94277	0.461000	0.40582	CGC	GABRB3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000166206		0.493	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	-	0	32	0	G			26866507	-1	tier1	-	no_errors	ENST00000299267	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	A	A	26866507	G	A	26866507	3	1	172	1	0	0	0	0	1	0	0	0	6192	1116	39	1	1030	1	GABRB3	15	26866507	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09		26866507	75664885	137	43281											
FRMD5	84978	genome.wustl.edu	37	chr15	44184264	44184264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aaatgcagcatttcctgacaCgtcctgcaacacagaaagac	15	7	7	12	1	0	3	0	1	0	2	2	3	2	3	2	0	4	3	2	0	3	1	rs371288449		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:44184264C>T	ENST00000417257.1	-	8	819	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	FRMD5_ENST00000402883.1_Missense_Mutation_p.V215M|FRMD5_ENST00000484674.1_Missense_Mutation_p.V126M	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	215	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTTCCTGACACGTCCTGCAAC	0.453																																																	0								C	MET/VAL	0,4396		0,0,2198	142	113	122		643	4.6	1	15		122	1,8595	1.2+/-3.3	0,1,4297	no	missense	FRMD5	NM_032892.3	21	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	215/571	44184264	1,12991	2198	4298	6496	SO:0001583	missense	0			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.643G>A	15.37:g.44184264C>T	ENSP00000403067:p.Val215Met		Q8NBG4	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.V215M	ENST00000417257.1	37	c.643	CCDS10107.2	15	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550701	0.65311	0.0	1.16E-4	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.82081	-1.57;-1.57;-1.57	4.61	4.61	0.57282	FERM domain (1);Pleckstrin homology-type (1);	0.064275	0.64402	D	0.000008	D	0.84759	0.5543	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72625	0.978;0.966	D	0.85164	0.0994	10	0.42905	T	0.14	.	16.5288	0.84352	0.0:1.0:0.0:0.0	.	215;215	Q7Z6J6;B5MC67	FRMD5_HUMAN;.	M	215;215;181	ENSP00000403067:V215M;ENSP00000384142:V215M;ENSP00000399684:V181M	ENSP00000384142:V215M	V	-	1	0	FRMD5	41971556	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.976000	0.76135	2.551000	0.86045	0.557000	0.71058	GTG	FRMD5	-	pfscan_FERM_domain	ENSG00000171877		0.453	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	HGNC	protein_coding	OTTHUMT00000133879.1	-	0	16	0	C	NM_032892		44184264	-1	tier1	-	no_errors	ENST00000417257	ensembl	human	known	74_37	missense	55.56	4	5	SNP	1.000	T	T	44184264	C	T	44184264	3	4	172	1	0	0	0	0	1	0	0	0	6077	536	19	1	1097	1	FRMD5	15	44184264	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	17317757	44184264	58347128	138	43282											
DUOX2	50506	genome.wustl.edu	37	chr15	45391892	45391892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcagccatggcgatccagCggtggaagtccactgcggca	9	5	14	13	3	0	0	0	0	0	0	2	2	2	1	3	4	4	2	3	4	1	0	rs374614801	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:45391892C>T	ENST00000603300.1	-	25	3585	c.3383G>A	c.(3382-3384)cGc>cAc	p.R1128H	DUOX2_ENST00000389039.6_Missense_Mutation_p.R1128H	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1128	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGCGATCCAGCGGTGGAAGTC	0.557													C|||	2	0.000399361	0	0	5008	,	,		21459	0.002		0	False		,,,				2504	0																0													96	86	90					15																	45391892		2198	4298	6496	SO:0001583	missense	0			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.3383G>A	15.37:g.45391892C>T	ENSP00000475084:p.Arg1128His		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.R1128H	ENST00000603300.1	37	c.3383	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910490	0.92107	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.58	5.58	0.84498	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.86755	0.1963	9	0.87932	D	0	-21.5728	18.5619	0.91102	0.0:1.0:0.0:0.0	.	1128	Q9NRD8	DUOX2_HUMAN	H	1128	.	ENSP00000373691:R1128H	R	-	2	0	DUOX2	43179184	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.057000	0.71119	2.647000	0.89833	0.467000	0.42956	CGC	DUOX2	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000140279		0.557	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		-	0	41	0	C	NM_014080		45391892	-1	tier1	-	no_errors	ENST00000389039	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	45391892	C	T	45391892	3	4	172	1	0	0	0	0	1	0	0	0	4815	768	27	1	1303	1	DUOX2	15	45391892	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	1207628	45391892	57139500	139	43283											
TMOD2	29767	genome.wustl.edu	37	chr15	52075011	52075011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccgcaactcgcagcaatGaccctgtggccattgtgagt	8	9	12	12	2	0	2	0	2	0	0	1	2	0	2	3	2	2	3	3	2	2	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:52075011G>A	ENST00000249700.4	+	7	939	c.718G>A	c.(718-720)Gac>Aac	p.D240N	TMOD2_ENST00000435126.2_Intron|TMOD2_ENST00000539962.2_Missense_Mutation_p.D196N	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	240					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TCGCAGCAATGACCCTGTGGC	0.393																																																	0													111	114	113					15																	52075011		2195	4293	6488	SO:0001583	missense	0			AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.718G>A	15.37:g.52075011G>A	ENSP00000249700:p.Asp240Asn		B4DEW6	Missense_Mutation	SNP	pfam_Tropomodulin	p.D240N	ENST00000249700.4	37	c.718	CCDS10144.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.242044	0.95272	.	.	ENSG00000128872	ENST00000249700;ENST00000539962	T;T	0.24723	1.84;1.84	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.60924	-0.7166	10	0.59425	D	0.04	-29.1052	19.4568	0.94895	0.0:0.0:1.0:0.0	.	240	Q9NZR1	TMOD2_HUMAN	N	240;196	ENSP00000249700:D240N;ENSP00000437743:D196N	ENSP00000249700:D240N	D	+	1	0	TMOD2	49862303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.063000	0.93927	2.832000	0.97577	0.655000	0.94253	GAC	TMOD2	-	NULL	ENSG00000128872		0.393	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD2	HGNC	protein_coding	OTTHUMT00000254742.2		0	32	0	G			52075011	1			no_errors	ENST00000249700	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	A	A	52075011	G	A	52075011	3	1	172	1	0	0	0	0	1	0	0	0	16281	1290	45	3	740	3	TMOD2	15	52075011	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	6683119	52075011	50456381	140	43284											
KIAA1024	23251	genome.wustl.edu	37	chr15	79749285	79749285	+	Missense_Mutation	SNP	A	A	C	1	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	tcttcaaagaggattttcacAatttgatggcagtgtccccc	10	13	8	10	0	3	2	2	1	1	1	4	3	4	3	2	2	0	1	2	2	2	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr15:79749285A>C	ENST00000305428.3	+	2	871	c.796A>C	c.(796-798)Aat>Cat	p.N266H		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	266						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGATTTTCACAATTTGATGGC	0.488																																																	0													78	89	85					15																	79749285		2196	4293	6489	SO:0001583	missense	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.796A>C	15.37:g.79749285A>C	ENSP00000307461:p.Asn266His		A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.N266H	ENST00000305428.3	37	c.796	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691052	0.48097	.	.	ENSG00000169330	ENST00000305428	T	0.35421	1.31	5.29	4.17	0.49024	.	0.269503	0.41938	D	0.000796	T	0.43523	0.1251	M	0.71581	2.175	0.53005	D	0.999969	P	0.47409	0.895	P	0.47673	0.554	T	0.33059	-0.9883	9	.	.	.	.	10.679	0.45802	0.9247:0.0:0.0753:0.0	.	266	Q9UPX6	K1024_HUMAN	H	266	ENSP00000307461:N266H	.	N	+	1	0	KIAA1024	77536340	1.000000	0.71417	0.738000	0.30950	0.584000	0.36387	8.476000	0.90421	0.854000	0.35336	0.482000	0.46254	AAT	KIAA1024	-	NULL	ENSG00000169330		0.488	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	-	0	24	0	A	NM_015206		79749285	1	tier1	-	no_errors	ENST00000305428	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	C	C	79749285	A	C	79749285	3	2	172	1	0	0	0	0	1	0	0	0	8232	130	5	4	798	4	KIAA1024	15	79749285	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	27674274	79749285	22782107	141	43285											
FBXL16	146330	genome.wustl.edu	37	chr16	747263	747265	+	In_Frame_Del	DEL	TGG	TGG	-																															gggtgggtgggggtggtggcTggcaggggcggttcttggtg																										TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:747263_747265delTGG	ENST00000397621.1	-	2	472_474	c.141_143delCCA	c.(139-144)tgccag>tgg	p.47_48CQ>W	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000324361.5_In_Frame_Del_p.47_48CQ>W	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	47	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGGTGGTGGCTGGCAGGGGCGGT	0.729																																																	0																																										SO:0001651	inframe_deletion	0			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.141_143delCCA	16.37:g.747263_747265delTGG	ENSP00000380746:p.Cys47_Gln48delinsTrp		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	In_Frame_Del	DEL	superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp	p.CQ47in_frame_delW	ENST00000397621.1	37	c.143_141	CCDS10421.1	16																																																																																			FBXL16	-	NULL	ENSG00000127585		0.729	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	HGNC	protein_coding	OTTHUMT00000206851.2		0	8	0	TGG	NM_153350		747265	-1	tier1		no_errors	ENST00000324361	ensembl	human	known	74_37	in_frame_del	60.00	2	3	DEL	1.000:1.000:1.000	-	-	747265	TGG	-	747263	7	5	172	1	0	1	0	1	0	0	0	0	5734	1580	55	0	1316	0	FBXL16	16	747263	In_Frame_Del	DEL	TGG	TCGA-VR-AA4D-01A-11D-A37C-09		747263	89607490	142	43286											
MEFV	4210	genome.wustl.edu	37	chr16	3299561	3299561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gctggacctgcttcaggtggCgcttacactgtggcaggggc	5	9	16	11	1	1	0	1	0	0	0	1	1	1	1	1	6	2	4	1	6	1	2	rs144998416		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:3299561C>T	ENST00000219596.1	-	3	1169	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	MEFV_ENST00000536379.1_Missense_Mutation_p.R166H|MEFV_ENST00000541159.1_Missense_Mutation_p.R166H|MEFV_ENST00000339854.4_Missense_Mutation_p.R197H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	377					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)	p.R377H(1)|p.R166H(1)		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						CTTCAGGTGGCGCTTACACTG	0.647																																																	2	Substitution - Missense(2)	breast(2)						C	HIS/ARG,HIS/ARG	2,4392	4.2+/-10.8	0,2,2195	53	47	49		1130,497	2.4	0.9	16	dbSNP_134	49	0,8600		0,0,4300	no	missense,missense	MEFV	NM_000243.2,NM_001198536.1	29,29	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	possibly-damaging,possibly-damaging	377/782,166/446	3299561	2,12992	2197	4300	6497	SO:0001583	missense	0			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.1130G>A	16.37:g.3299561C>T	ENSP00000219596:p.Arg377His		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.R377H	ENST00000219596.1	37	c.1130	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	8.627	0.892888	0.17613	4.55E-4	0.0	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.35	2.37	0.29283	Zinc finger, B-box (3);	0.239831	0.30134	N	0.010337	T	0.27866	0.0686	L	0.37466	1.105	0.09310	N	1	P	0.36199	0.543	B	0.34346	0.18	T	0.12502	-1.0545	10	0.48119	T	0.1	-6.4133	5.7348	0.18061	0.0:0.6702:0.1599:0.1699	.	377	O15553	MEFV_HUMAN	H	377;377;197;166;166;166	ENSP00000219596:R377H;ENSP00000339639:R197H;ENSP00000438711:R166H;ENSP00000445079:R166H	ENSP00000219596:R377H	R	-	2	0	MEFV	3239562	0.000000	0.05858	0.928000	0.36995	0.031000	0.12232	0.044000	0.13992	0.506000	0.28125	-0.740000	0.03531	CGC	MEFV	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000103313		0.647	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	-	0	80	0	C	NM_000243		3299561	-1	tier1	rs144998416	no_errors	ENST00000219596	ensembl	human	known	74_37	missense	32.20	40	19	SNP	0.002	T	T	3299561	C	T	3299561	3	4	172	1	0	0	0	0	1	0	0	0	9497	768	27	1	1247	1	MEFV	16	3299561	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	2552298	3299561	87055192	143	43287											
GRIN2A	2903	genome.wustl.edu	37	chr16	9923301	9923301	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttgtcactgaggccggtCacttggtccacaaattcctc	7	14	8	12	1	2	1	2	1	0	0	5	1	4	1	3	3	0	0	3	3	1	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:9923301C>T	ENST00000396573.2	-	10	2295	c.1986G>A	c.(1984-1986)gtG>gtA	p.V662V	GRIN2A_ENST00000396575.2_Silent_p.V662V|GRIN2A_ENST00000535259.1_Silent_p.V505V|GRIN2A_ENST00000330684.3_Silent_p.V662V|GRIN2A_ENST00000404927.2_Silent_p.V662V|GRIN2A_ENST00000562109.1_Silent_p.V662V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	662					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)	TGAGGCCGGTCACTTGGTCCA	0.498																																																	0													115	104	108					16																	9923301		2197	4300	6497	SO:0001819	synonymous_variant	0				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.1986G>A	16.37:g.9923301C>T			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V662	ENST00000396573.2	37	c.1986	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000183454		0.498	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	-	0	71	0	C			9923301	-1	tier1	-	no_errors	ENST00000330684	ensembl	human	known	74_37	silent	23.33	46	14	SNP	1.000	T	T	9923301	C	T	9923301	2	4	172	1	0	0	0	0	0	0	0	1	6806	813	29	3		3	GRIN2A	16	9923301	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	6623740	9923301	80431452	144	43288											
RBBP6	5930	genome.wustl.edu	37	chr16	24578657	24578657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggccagccaccacccGctgggtatagtgtccctcct	5	9	9	18	1	0	0	0	0	0	0	3	0	3	0	7	2	1	2	7	2	2	2	rs199538396		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:24578657G>T	ENST00000319715.4	+	15	2215	c.1783G>T	c.(1783-1785)Gct>Tct	p.A595S	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.A595S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	595					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)		GCCACCACCCGCTGGGTATAG	0.542																																																	0													201	207	205					16																	24578657		2197	4300	6497	SO:0001583	missense	0				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.1783G>T	16.37:g.24578657G>T	ENSP00000317872:p.Ala595Ser		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.A595S	ENST00000319715.4	37	c.1783	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711745	0.48517	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.17528	2.27;2.46	5.9	5.9	0.94986	.	0.147891	0.46758	D	0.000274	T	0.28300	0.0699	N	0.24115	0.695	0.38567	D	0.949844	D;D	0.69078	0.997;0.995	D;P	0.65010	0.931;0.855	T	0.02901	-1.1096	10	0.24483	T	0.36	-21.1466	20.2723	0.98479	0.0:0.0:1.0:0.0	.	595;595	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	S	595	ENSP00000317872:A595S;ENSP00000316291:A595S	ENSP00000317872:A595S	A	+	1	0	RBBP6	24486158	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.498000	0.60373	2.793000	0.96121	0.563000	0.77884	GCT	RBBP6	-	NULL	ENSG00000122257		0.542	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2		0	81	0	G	NM_006910		24578657	1			no_errors	ENST00000319715	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	24578657	G	T	24578657	3	4	172	1	0	0	0	0	1	0	0	0	13148	1087	38	2	1895	2	RBBP6	16	24578657	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	14655356	24578657	65776096	145	43289											
SLC5A11	115584	genome.wustl.edu	37	chr16	24921729	24921729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctctctcagaacgggatgCcagaggccagcagcagcagc	10	4	12	15	1	2	2	1	0	1	2	3	3	2	3	3	2	6	3	3	2	1	0	rs148456649		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:24921729C>T	ENST00000347898.3	+	15	2375	c.1753C>T	c.(1753-1755)Cca>Tca	p.P585S	SLC5A11_ENST00000568579.1_Missense_Mutation_p.P515S|SLC5A11_ENST00000449109.2_Missense_Mutation_p.P429S|SLC5A11_ENST00000424767.2_Missense_Mutation_p.P550S|SLC5A11_ENST00000545376.1_Missense_Mutation_p.P515S|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P429S|SLC5A11_ENST00000539472.1_Missense_Mutation_p.P521S|SLC5A11_ENST00000565769.1_Missense_Mutation_p.P521S|SLC5A11_ENST00000567758.1_Missense_Mutation_p.P550S	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.P585T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GAACGGGATGCCAGAGGCCAG	0.552																																																	1	Substitution - Missense(1)	lung(1)						C	SER/PRO	0,4394		0,0,2197	108	88	95		1753	-7.9	0	16	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC5A11	NM_052944.2	74	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	585/676	24921729	1,12993	2197	4300	6497	SO:0001583	missense	0			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1753C>T	16.37:g.24921729C>T	ENSP00000289932:p.Pro585Ser			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.P585S	ENST00000347898.3	37	c.1753	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194768	0.38806	0.0	1.16E-4	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08	5.39	-7.9	0.01169	.	2.029970	0.01502	N	0.017534	T	0.39600	0.1084	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.19073	0.02;0.033;0.025;0.002	B;B;B;B	0.17979	0.009;0.02;0.009;0.002	T	0.12192	-1.0557	10	0.24483	T	0.36	.	2.1856	0.03886	0.4133:0.1495:0.294:0.1433	.	515;550;585;429	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	S	585;429;550;515;521	ENSP00000289932:P585S;ENSP00000389606:P429S;ENSP00000416782:P550S;ENSP00000441384:P515S;ENSP00000441018:P521S	ENSP00000289932:P585S	P	+	1	0	SLC5A11	24829230	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-1.435000	0.02423	-1.093000	0.03058	0.514000	0.50259	CCA	SLC5A11	-	NULL	ENSG00000158865		0.552	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3		0	53	0	C	NM_052944		24921729	1			no_errors	ENST00000347898	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.000	T	T	24921729	C	T	24921729	3	4	172	1	0	0	0	0	1	0	0	0	14708	739	26	3	1807	3	SLC5A11	16	24921729	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	343072	24921729	65433024	146	43290											
CLN3	1201	genome.wustl.edu	37	chr16	28488869	28488869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagaggaagtcatgcagagGcaaagccaggagccccgaca	14	2	14	11	1	1	2	1	0	0	2	1	5	1	4	3	3	3	3	3	3	2	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:28488869G>A	ENST00000569430.1	-	17	2104	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	CLN3_ENST00000535392.1_Missense_Mutation_p.P351S|CLN3_ENST00000567963.1_Missense_Mutation_p.P332S|CLN3_ENST00000565316.1_Missense_Mutation_p.P412S|CLN3_ENST00000357857.9_Missense_Mutation_p.P375S|CLN3_ENST00000333496.9_Missense_Mutation_p.P405S|CLN3_ENST00000359984.7_Missense_Mutation_p.P429S|CLN3_ENST00000360019.2_Missense_Mutation_p.P429S|CLN3_ENST00000355477.5_Missense_Mutation_p.P381S|CLN3_ENST00000357806.7_Missense_Mutation_p.P330S|CLN3_ENST00000568224.1_Missense_Mutation_p.P351S|CLN3_ENST00000354630.5_Missense_Mutation_p.P412S|CLN3_ENST00000395653.4_Missense_Mutation_p.P329S			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	429					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						TCATGCAGAGGCAAAGCCAGG	0.612																																																	0													61	68	66					16																	28488869		2197	4300	6497	SO:0001583	missense	0			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.1285C>T	16.37:g.28488869G>A	ENSP00000454229:p.Pro429Ser		B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3	p.P429S	ENST00000569430.1	37	c.1285	CCDS10632.1	16	.	.	.	.	.	.	.	.	.	.	g	21.7	4.189837	0.78789	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806	D;D;D;D;D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);	0.115010	0.64402	D	0.000013	D	0.97711	0.9249	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;0.981;1.0;0.986;1.0	D	0.97027	0.9747	10	0.21540	T	0.41	-13.1224	16.1308	0.81436	0.0:0.0:1.0:0.0	.	405;412;327;329;375;381;429;330	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	S	351;429;429;412;381;375;329;330	ENSP00000443221:P351S;ENSP00000353073:P429S;ENSP00000353116:P429S;ENSP00000346650:P412S;ENSP00000347660:P381S;ENSP00000350523:P375S;ENSP00000379014:P329S;ENSP00000350457:P330S	ENSP00000346650:P412S	P	-	1	0	CLN3	28396370	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.058000	0.71126	2.403000	0.81681	0.561000	0.74099	CCT	CLN3	-	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3	ENSG00000188603		0.612	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN3	HGNC	protein_coding	OTTHUMT00000214115.2		0	23	0	G			28488869	-1			no_errors	ENST00000359984	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	A	A	28488869	G	A	28488869	3	1	172	1	0	0	0	0	1	0	0	0	3550	1203	42	3	35	3	CLN3	16	28488869	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	3567140	28488869	61865884	147	43291											
ZNF668	79759	genome.wustl.edu	37	chr16	31075398	31075398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cgtgcgaggccaggtgcacgCgcaggcacacgggctgcatg	7	4	17	13	5	0	0	0	0	0	0	0	1	0	0	1	4	3	5	1	4	0	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:31075398C>T	ENST00000538906.1	-	2	1167	c.383G>A	c.(382-384)cGc>cAc	p.R128H	ZNF668_ENST00000300849.4_Missense_Mutation_p.R128H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R128H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R151H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R151H|ZNF668_ENST00000564456.1_5'Flank|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000535577.1_Missense_Mutation_p.R128H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	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)|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						CAGGTGCACGCGCAGGCACAC	0.711																																					Colon(181;1111 1980 5060 10512 25785)												0													23	22	22					16																	31075398		2195	4296	6491	SO:0001583	missense	0				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.383G>A	16.37:g.31075398C>T	ENSP00000440149:p.Arg128His		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R151H	ENST00000538906.1	37	c.452	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372206	0.61624	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061581	0.64402	D	0.000016	T	0.29355	0.0731	L	0.50919	1.6	0.40316	D	0.978779	D	0.71674	0.998	P	0.61201	0.885	T	0.00865	-1.1535	10	0.37606	T	0.19	-33.9223	10.6313	0.45538	0.0:0.9109:0.0:0.0891	.	128	Q96K58	ZN668_HUMAN	H	151;128;128;128;128	ENSP00000442573:R151H;ENSP00000441349:R128H;ENSP00000440149:R128H;ENSP00000378434:R128H;ENSP00000300849:R128H	ENSP00000300849:R128H	R	-	2	0	ZNF668	30982899	0.002000	0.14202	0.991000	0.47740	0.354000	0.29330	1.742000	0.38248	2.566000	0.86566	0.455000	0.32223	CGC	ZNF668	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167394		0.711	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2		0	28	0	C	NM_024706		31075398	-1			no_errors	ENST00000426488	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.994	T	T	31075398	C	T	31075398	3	4	172	1	0	0	0	0	1	0	0	0	18123	768	27	1	1484	1	ZNF668	16	31075398	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	2586529	31075398	59279355	148	43292											
CLEC18B	497190	genome.wustl.edu	37	chr16	74455135	74455136	+	Frame_Shift_Ins	INS	-	-	C																															aggagcacagccaggagatgINScccccggccaggggaggtct																										TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:74455135_74455136insC	ENST00000339953.5	-	1	154_155	c.33_34insG	c.(31-36)gggcatfs	p.H12fs	RP11-252A24.5_ENST00000567148.1_RNA|RP11-252A24.5_ENST00000566506.1_RNA	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	12						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						GCCAGGAGATGCCCCCGGCCAG	0.678																																																	0																																										SO:0001589	frameshift_variant	0			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.34dupG	16.37:g.74455140_74455140dupC	ENSP00000341051:p.His12fs		B4DF90	Frame_Shift_Ins	INS	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.H11fs	ENST00000339953.5	37	c.34_33	CCDS32484.1	16																																																																																			CLEC18B	-	NULL	ENSG00000140839		0.678	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	HGNC	protein_coding	OTTHUMT00000434697.1		0	166	0	-	NM_001011880		74455136	-1	tier1		no_errors	ENST00000339953	ensembl	human	known	74_37	frame_shift_ins	27.56	92	35	INS	0.004:0.003	C	C	74455136	-	C	74455135	7	5	172	1	0	1	1	0	0	0	0	0	3510	1319	46	0	1385	0	CLEC18B	16	74455135	Frame_Shift_Ins	INS	-	TCGA-VR-AA4D-01A-11D-A37C-09	43379737	74455135	15899618	149	43293											
CDK10	8558	genome.wustl.edu	37	chr16	89762095	89762095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccagagcaagcgctgtaaaCcctgacggtgggcctggcac	9	5	14	13	2	0	2	0	1	0	1	0	2	0	2	3	3	3	4	3	3	3	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr16:89762095C>A	ENST00000353379.7	+	13	1121	c.1078C>A	c.(1078-1080)Ccc>Acc	p.P360T	CDK10_ENST00000331006.8_Missense_Mutation_p.P313T|CDK10_ENST00000505473.1_Intron	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	360					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)		GCGCTGTAAACCCTGACGGTG	0.677																																																	0													32	37	35					16																	89762095		2192	4297	6489	SO:0001583	missense	0			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.1078C>A	16.37:g.89762095C>A	ENSP00000338673:p.Pro360Thr		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P360T	ENST00000353379.7	37	c.1078	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344723	0.61073	.	.	ENSG00000185324	ENST00000331006;ENST00000353379	T;T	0.71222	-0.55;-0.49	4.93	4.93	0.64822	.	0.179966	0.50627	D	0.000116	T	0.51466	0.1676	N	0.08118	0	0.80722	D	1	B;B	0.30482	0.281;0.275	B;B	0.28305	0.041;0.088	T	0.58814	-0.7570	10	0.87932	D	0	.	13.5877	0.61942	0.1562:0.8438:0.0:0.0	.	360;283	Q15131;Q15131-3	CDK10_HUMAN;.	T	313;360	ENSP00000329957:P313T;ENSP00000338673:P360T	ENSP00000329957:P313T	P	+	1	0	CDK10	88289596	1.000000	0.71417	0.923000	0.36655	0.819000	0.46315	5.178000	0.65037	2.275000	0.75901	0.650000	0.86243	CCC	CDK10	-	NULL	ENSG00000185324		0.677	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	-	0	97	0	C			89762095	1	tier1	-	no_errors	ENST00000353379	ensembl	human	known	74_37	missense	41.44	65	46	SNP	1.000	A	A	89762095	C	A	89762095	3	1	172	1	0	0	0	0	1	0	0	0	3132	507	18	3	1128	3	CDK10	16	89762095	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	15306960	89762095	592658	150	43294											
TP53	7157	genome.wustl.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs397516437|rs121912651		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	0	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	50	0	G	NM_000546		7577539	-1	tier1	rs121912651	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	63.64	8	14	SNP	1.000	A	A	7577539	G	A	7577539	3	1	172	1	0	0	0	0	1	0	0	0	16429	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09		7577539	73617671	151	43295											
CYB5D1	124637	genome.wustl.edu	37	chr17	7762921	7762921	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaatgatgatctcacGgagttgtaggcaaggagatg	12	11	12	6	1	2	3	2	2	1	1	3	5	2	4	0	3	1	3	0	3	4	4	rs372408463		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:7762921G>T	ENST00000332439.4	+	4	830	c.678G>T	c.(676-678)acG>acT	p.T226T	LSMD1_ENST00000575071.1_5'Flank|CYB5D1_ENST00000571846.1_3'UTR|LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000570446.1_Silent_p.T98T|LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000575208.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank|LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576384.1_5'Flank	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	226							heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				ATGATCTCACGGAGTTGTAGG	0.478																																																	0													142	121	128					17																	7762921		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.678G>T	17.37:g.7762921G>T			D3DTQ8|Q96DM7	Silent	SNP	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd	p.T226	ENST00000332439.4	37	c.678	CCDS11123.1	17																																																																																			CYB5D1	-	NULL	ENSG00000182224		0.478	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5D1	HGNC	protein_coding	OTTHUMT00000440841.1	-	0	40	0	G	NM_144607		7762921	1	tier1	-	no_errors	ENST00000332439	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.544	T	T	7762921	G	T	7762921	2	4	172	1	0	0	0	0	0	0	0	1	4133	1103	39	2		2	CYB5D1	17	7762921	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	185382	7762921	73432289	152	43296											
TRPV2	51393	genome.wustl.edu	37	chr17	16329551	16329551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgaggagaactcagtgCtggagatcattgcctttcat	9	12	12	8	0	3	3	3	1	0	2	3	5	3	3	1	2	3	2	1	2	1	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:16329551C>A	ENST00000338560.7	+	6	1462	c.1063C>A	c.(1063-1065)Ctg>Atg	p.L355M	TRPV2_ENST00000577397.1_Intron|AC093484.4_ENST00000441875.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	355	Required for interaction with SLC50A1. {ECO:0000250}.				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)		GAACTCAGTGCTGGAGATCAT	0.572																																																	0													111	91	98					17																	16329551		2203	4300	6503	SO:0001583	missense	0			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.1063C>A	17.37:g.16329551C>A	ENSP00000342222:p.Leu355Met		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.L355M	ENST00000338560.7	37	c.1063	CCDS32576.1	17	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940042	0.52972	.	.	ENSG00000187688	ENST00000338560	D	0.91464	-2.85	5.07	3.07	0.35406	.	0.069200	0.64402	D	0.000014	D	0.94245	0.8152	M	0.85041	2.73	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	D	0.92884	0.6325	10	0.66056	D	0.02	-9.7333	8.131	0.31027	0.0:0.7514:0.0:0.2486	.	355	Q9Y5S1	TRPV2_HUMAN	M	355	ENSP00000342222:L355M	ENSP00000342222:L355M	L	+	1	2	TRPV2	16270276	1.000000	0.71417	0.999000	0.59377	0.557000	0.35523	1.959000	0.40412	0.541000	0.28827	0.467000	0.42956	CTG	TRPV2	-	tigrfam_TRP_channel	ENSG00000187688		0.572	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	-	0	49	0	C	NM_016113		16329551	1	tier1	-	no_errors	ENST00000338560	ensembl	human	known	74_37	missense	26.67	33	12	SNP	1.000	A	A	16329551	C	A	16329551	3	1	172	1	0	0	0	0	1	0	0	0	16644	796	28	3	1081	3	TRPV2	17	16329551	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	8566630	16329551	64865659	153	43297											
CSF3	1440	genome.wustl.edu	37	chr17	38173192	38173193	+	Frame_Shift_Del	DEL	CG	CG	-																															aggtgtcgtaccgcgttctaCgccaccttgcccagccctga																								rs145311241|rs547038752	byFrequency	TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:38173192_38173193delCG	ENST00000225474.2	+	5	635_636	c.604_605delCG	c.(604-606)cgcfs	p.R202fs	CSF3_ENST00000577675.1_Frame_Shift_Del_p.R159fs|CSF3_ENST00000331769.2_Frame_Shift_Del_p.R195fs|CSF3_ENST00000394148.3_Frame_Shift_Del_p.R166fs|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000394149.3_Frame_Shift_Del_p.R199fs			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	202					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				CCGCGTTCTACGCCACCTTGCC	0.54																																																	0																																										SO:0001589	frameshift_variant	0				CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"Endogenous ligands"	2438	protein-coding gene	gene with protein product	"granulocyte colony stimulating factor", "pluripoietin", "filgrastim", "lenograstim"	138970	"chromosome 17 open reading frame 33"	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.604_605delCG	17.37:g.38173192_38173193delCG	ENSP00000225474:p.Arg202fs		A8MXR7	Frame_Shift_Del	DEL	pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,pirsf_IL-6/IL-23/GCSF/MGF,prints_IL-6/IL-23/GCSF/MGF	p.R202fs	ENST00000225474.2	37	c.604_605	CCDS11357.1	17																																																																																			CSF3	-	pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,pirsf_IL-6/IL-23/GCSF/MGF,prints_IL-6/IL-23/GCSF/MGF	ENSG00000108342		0.54	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSF3	HGNC	protein_coding	OTTHUMT00000256988.2		0	49	0	CG	NM_172220		38173193	1	tier1		no_errors	ENST00000225474	ensembl	human	known	74_37	frame_shift_del	17.25	403	84	DEL	0.998:0.993	-	-	38173193	CG	-	38173192	7	5	172	1	0	1	0	1	0	0	0	0	3945	536	19	0	622	0	CSF3	17	38173192	Frame_Shift_Del	DEL	CG	TCGA-VR-AA4D-01A-11D-A37C-09	21843641	38173192	43022018	154	43298											
STAT3	6774	genome.wustl.edu	37	chr17	40491335	40491335	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtaacttgcatcacctgCactctcttccggacatcctg	7	13	6	15	1	2	0	1	0	1	0	5	1	4	1	3	1	3	3	3	1	1	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:40491335C>A	ENST00000264657.5	-	5	777	c.465G>T	c.(463-465)gtG>gtT	p.V155V	STAT3_ENST00000404395.3_Silent_p.V155V|STAT3_ENST00000389272.3_Silent_p.V57V|STAT3_ENST00000588969.1_Silent_p.V155V|STAT3_ENST00000585517.1_Silent_p.V155V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	155					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|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)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCATCACCTGCACTCTCTTCC	0.547									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								0													78	70	73					17																	40491335		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.465G>T	17.37:g.40491335C>A			A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.V155	ENST00000264657.5	37	c.465	CCDS32656.1	17																																																																																			STAT3	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil	ENSG00000168610		0.547	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	-	0	22	0	C	NM_139276, NM_003150		40491335	-1	tier1	-	no_errors	ENST00000264657	ensembl	human	known	74_37	silent	21.88	50	14	SNP	0.757	A	A	40491335	C	A	40491335	2	1	172	1	0	0	0	0	0	0	0	1	15313	697	25	3		3	STAT3	17	40491335	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	2318143	40491335	40703875	155	43299											
NPEPPS	9520	genome.wustl.edu	37	chr17	45608675	45608675	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctcggtggatgtggctGgcagctgccgccccctccct	2	8	14	17	4	0	0	0	0	0	0	2	1	1	1	4	4	2	4	4	4	0	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:45608675G>T	ENST00000322157.4	+	1	246	c.9G>T	c.(7-9)ctG>ctT	p.L3L	NPEPPS_ENST00000544660.1_5'Flank|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000530173.1_Intron	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	3					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						GGATGTGGCTGGCAGCTGCCG	0.761																																																	0													1	1	1					17																	45608675		56	185	241	SO:0001819	synonymous_variant	0			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.9G>T	17.37:g.45608675G>T			B7Z463|Q6P145|Q9NP16|Q9UEM2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L3	ENST00000322157.4	37	c.9	CCDS45721.1	17																																																																																			NPEPPS	-	NULL	ENSG00000141279		0.761	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	-	0	25	0	G	NM_006310		45608675	1	tier1	-	no_errors	ENST00000322157	ensembl	human	known	74_37	silent	18.18	45	10	SNP	1.000	T	T	45608675	G	T	45608675	2	4	172	1	0	0	0	0	0	0	0	1	10614	1335	47	3		3	NPEPPS	17	45608675	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	5117340	45608675	35586535	156	43300											
MBTD1	54799	genome.wustl.edu	37	chr17	49270349	49270349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctactgcttctaatttcattCctacacgaaatccgtgattt	10	16	4	11	2	2	1	1	1	1	0	4	2	4	1	2	0	3	1	2	0	4	7			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:49270349C>G	ENST00000586178.1	-	15	1827	c.1484G>C	c.(1483-1485)gGa>gCa	p.G495A	MBTD1_ENST00000415868.1_Missense_Mutation_p.G495A|MBTD1_ENST00000376381.2_3'UTR	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	495					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TAATTTCATTCCTACACGAAA	0.368																																																	0													158	153	155					17																	49270349		2203	4300	6503	SO:0001583	missense	0			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1484G>C	17.37:g.49270349C>G	ENSP00000468304:p.Gly495Ala		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.G495A	ENST00000586178.1	37	c.1484	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524114	0.64747	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.52295	0.67	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.77712	2.385	0.80722	D	1	B;P	0.37663	0.258;0.604	B;B	0.39258	0.155;0.295	T	0.60010	-0.7346	10	0.66056	D	0.02	.	16.4848	0.84181	0.0:0.8692:0.1308:0.0	.	495;331	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	A	495	ENSP00000403946:G495A	ENSP00000386072:G495A	G	-	2	0	MBTD1	46625348	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.996000	0.70639	2.784000	0.95788	0.650000	0.86243	GGA	MBTD1	-	smart_Mbt,pfscan_Mbt	ENSG00000011258		0.368	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	-	0	23	0	C			49270349	-1	tier1	-	no_errors	ENST00000415868	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	G	G	49270349	C	G	49270349	3	3	172	1	0	0	0	0	1	0	0	0	9398	855	30	5	414	5	MBTD1	17	49270349	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	3661674	49270349	31924861	157	43301											
MRC2	9902	genome.wustl.edu	37	chr17	60742136	60742136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatgagtgtgaccgggaaGcactgaatcttcgctggcat	9	11	13	8	2	1	3	0	3	1	0	2	4	1	4	1	2	1	4	1	2	3	2	rs375584608		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:60742136G>C	ENST00000303375.5	+	2	748	c.346G>C	c.(346-348)Gca>Cca	p.A116P		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	116	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				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						TGACCGGGAAGCACTGAATCT	0.607																																																	0													86	75	79					17																	60742136		2203	4300	6503	SO:0001583	missense	0			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.346G>C	17.37:g.60742136G>C	ENSP00000307513:p.Ala116Pro		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.A116P	ENST00000303375.5	37	c.346	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012512	0.35511	.	.	ENSG00000011028	ENST00000303375	T	0.28895	1.59	5.23	5.23	0.72850	Ricin B-related lectin (1);Ricin B lectin (2);	0.239956	0.43579	D	0.000545	T	0.18299	0.0439	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10064	-1.0646	10	0.25751	T	0.34	-13.4889	7.1942	0.25843	0.0855:0.0:0.6965:0.2181	.	116	Q9UBG0	MRC2_HUMAN	P	116	ENSP00000307513:A116P	ENSP00000307513:A116P	A	+	1	0	MRC2	58095868	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.052000	0.49893	2.450000	0.82876	0.561000	0.74099	GCA	MRC2	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000011028		0.607	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1		0	24	0	G			60742136	1			no_errors	ENST00000303375	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	C	C	60742136	G	C	60742136	3	2	172	1	0	0	0	0	1	0	0	0	9796	971	34	5	352	5	MRC2	17	60742136	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	11471787	60742136	20453074	158	43302											
SRP68	6730	genome.wustl.edu	37	chr17	74036995	74036995	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ggggctcaccaaggatggctGcggcctgcagggagcacttc	7	6	16	12	1	1	0	1	0	0	0	2	2	1	2	2	6	3	4	2	6	1	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:74036995G>A	ENST00000307877.2	-	14	1750	c.1589C>T	c.(1588-1590)gCa>gTa	p.A530V	SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Missense_Mutation_p.A492V|SRP68_ENST00000355113.5_Missense_Mutation_p.A429V|SRP68_ENST00000602720.1_Missense_Mutation_p.A191V	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	530					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)|nucleolus (GO:0005730)|ribosome (GO:0005840)|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)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AAGGATGGCTGCGGCCTGCAG	0.557																																																	0													80	81	81					17																	74036995		2203	4300	6503	SO:0001583	missense	0			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1589C>T	17.37:g.74036995G>A	ENSP00000312066:p.Ala530Val		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	NULL	p.A530V	ENST00000307877.2	37	c.1589	CCDS11738.1	17	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264026	0.59431	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000542536;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	6.07	6.07	0.98685	.	0.044474	0.85682	D	0.000000	T	0.72028	0.3410	L	0.59436	1.845	0.80722	D	1	D;P	0.55605	0.972;0.952	P;P	0.56398	0.797;0.461	T	0.63292	-0.6670	9	0.15066	T	0.55	-24.0316	20.6439	0.99570	0.0:0.0:1.0:0.0	.	492;530	G3V1U4;Q9UHB9	.;SRP68_HUMAN	V	270;492;191;530;499;429	.	ENSP00000307756:A499V	A	-	2	0	SRP68	71548590	1.000000	0.71417	0.719000	0.30619	0.811000	0.45836	9.304000	0.96190	2.884000	0.98904	0.655000	0.94253	GCA	SRP68	-	NULL	ENSG00000167881		0.557	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	HGNC	protein_coding	OTTHUMT00000449487.1		0	59	0	G	NM_014230		74036995	-1			no_errors	ENST00000307877	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A	A	74036995	G	A	74036995	3	1	172	1	0	0	0	0	1	0	0	0	15203	1319	46	3	306	3	SRP68	17	74036995	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	13294859	74036995	7158215	159	43303											
UBE2O	63893	genome.wustl.edu	37	chr17	74388061	74388061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaggttggggttcaggcggCcactgcattgggagaggtag	8	8	18	7	1	1	1	1	0	0	1	1	2	1	1	1	7	1	4	1	7	1	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr17:74388061C>T	ENST00000319380.7	-	16	3144	c.3080G>A	c.(3079-3081)gGc>gAc	p.G1027D		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1027					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						GTTCAGGCGGCCACTGCATTG	0.592																																																	0													33	32	32					17																	74388061		2203	4300	6503	SO:0001583	missense	0			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.3080G>A	17.37:g.74388061C>T	ENSP00000323687:p.Gly1027Asp		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.G1027D	ENST00000319380.7	37	c.3080	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732976	0.89482	.	.	ENSG00000175931	ENST00000319380	T	0.36520	1.25	5.4	5.4	0.78164	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	N	0.25060	0.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.20107	-1.0285	10	0.15952	T	0.53	-33.462	17.3568	0.87338	0.0:1.0:0.0:0.0	.	1027	Q9C0C9	UBE2O_HUMAN	D	1027	ENSP00000323687:G1027D	ENSP00000323687:G1027D	G	-	2	0	UBE2O	71899656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.570000	0.82390	2.518000	0.84900	0.563000	0.77884	GGC	UBE2O	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000175931		0.592	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	-	0	59	0	C	NM_022066		74388061	-1	tier1	-	no_errors	ENST00000319380	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	74388061	C	T	74388061	3	4	172	1	0	0	0	0	1	0	0	0	16917	739	26	3	810	3	UBE2O	17	74388061	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	351066	74388061	6807149	160	43304											
MYOM1	8736	genome.wustl.edu	37	chr18	3134771	3134771	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccacgaaactaccactGaggtgtctgtgtttctgctt	7	13	8	13	1	2	1	0	1	2	0	3	2	3	1	3	1	3	2	3	1	2	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr18:3134771G>T	ENST00000356443.4	-	16	2594	c.2261C>A	c.(2260-2262)tCa>tAa	p.S754*	MYOM1_ENST00000261606.7_Nonsense_Mutation_p.S754*|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.S754*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	754	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.S754L(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACTACCACTGAGGTGTCTGT	0.488																																																	1	Substitution - Missense(1)	lung(1)											108	104	105					18																	3134771		1878	4121	5999	SO:0001587	stop_gained	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2261C>A	18.37:g.3134771G>T	ENSP00000348821:p.Ser754*		Q14BD6|Q6H969|Q6ZUU0	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S754*	ENST00000356443.4	37	c.2261	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	G	42	9.628664	0.99223	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.838	0.96666	0.0:0.0:1.0:0.0	.	.	.	.	X	754	.	ENSP00000261606:S754X	S	-	2	0	MYOM1	3124771	1.000000	0.71417	0.984000	0.44739	0.596000	0.36781	9.865000	0.99609	2.694000	0.91930	0.650000	0.86243	TCA	MYOM1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000101605		0.488	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2		0	51	0	G	NM_003803		3134771	-1			no_errors	ENST00000356443	ensembl	human	known	74_37	nonsense	5.88	48	3	SNP	1.000	T	T	3134771	G	T	3134771	4	4	172	1	0	0	0	0	0	1	0	0	10129	1294	45	3	2888	3	MYOM1	18	3134771	Nonsense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09		3134771	74942477	161	43305											
FAM59A	64762	genome.wustl.edu	37	chr18	29867784	29867784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagtggaggtcgtatGggtttctcggtggagggctt	6	12	19	4	2	1	1	0	1	1	0	3	4	1	4	0	7	0	3	0	7	2	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr18:29867784G>T	ENST00000269209.6	-	4	779	c.776C>A	c.(775-777)cCa>cAa	p.P259Q	GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Missense_Mutation_p.P259Q|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	259	CABIT.				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)										GAGGTCGTATGGGTTTCTCGG	0.527																																																	0													198	170	179					18																	29867784		2203	4300	6503	SO:0001583	missense	0			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.776C>A	18.37:g.29867784G>T	ENSP00000269209:p.Pro259Gln		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	superfamily_SAM/pointed	p.P259Q	ENST00000269209.6	37	c.776	CCDS56057.1	18	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609832	0.46527	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.13778	2.56;2.56	5.65	5.65	0.86999	.	0.049129	0.85682	D	0.000000	T	0.20495	0.0493	L	0.46157	1.445	0.58432	D	0.999998	B;B	0.26602	0.103;0.154	B;B	0.34489	0.132;0.184	T	0.02313	-1.1178	10	0.59425	D	0.04	-17.103	20.0679	0.97707	0.0:0.0:1.0:0.0	.	259;259	Q9H706;Q9H706-3	FA59A_HUMAN;.	Q	259	ENSP00000382165:P259Q;ENSP00000269209:P259Q	ENSP00000269209:P259Q	P	-	2	0	FAM59A	28121782	1.000000	0.71417	0.968000	0.41197	0.930000	0.56654	5.685000	0.68204	2.821000	0.97095	0.561000	0.74099	CCA	GAREM	-	NULL	ENSG00000141441		0.527	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GAREM	HGNC	protein_coding	OTTHUMT00000255365.1	-	0	37	0	G	NM_022751		29867784	-1	tier1	-	no_errors	ENST00000269209	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.997	T	T	29867784	G	T	29867784	3	4	172	1	0	0	0	0	1	0	0	0	5614	1348	47	3	1863	3	FAM59A	18	29867784	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	26733013	29867784	48209464	162	43306											
SLC14A1	6563	genome.wustl.edu	37	chr18	43329755	43329755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccccaggttggattgccaGcttgtacctggcccttctgt	4	14	10	13	0	1	0	0	0	1	0	2	1	2	1	5	3	3	3	5	3	1	6			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr18:43329755G>T	ENST00000321925.4	+	10	1241	c.1009G>T	c.(1009-1011)Gct>Tct	p.A337S	RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A393S|SLC14A1_ENST00000591541.1_Missense_Mutation_p.A41S|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A337S|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A229S|SLC14A1_ENST00000535474.1_Missense_Mutation_p.A205S|SLC14A1_ENST00000589700.1_Missense_Mutation_p.Q287H|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A393S|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A232S	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)	337					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						TGGATTGCCAGCTTGTACCTG	0.493																																																	0													164	137	146					18																	43329755		2203	4300	6503	SO:0001583	missense	0			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.1009G>T	18.37:g.43329755G>T	ENSP00000318546:p.Ala337Ser		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	pfam_Urea_transporter	p.A393S	ENST00000321925.4	37	c.1177	CCDS11925.1	18	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426880	0.25726	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54	5.33	-4.54	0.03452	.	0.689254	0.13408	N	0.390075	T	0.30039	0.0752	N	0.25245	0.725	0.25069	N	0.991008	B;B;B	0.16802	0.005;0.006;0.019	B;B;B	0.21360	0.011;0.023;0.034	T	0.14531	-1.0469	10	0.29301	T	0.29	-0.3396	6.4922	0.22121	0.0803:0.076:0.4958:0.348	.	393;229;337	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	S	337;393;229;232;205;393	ENSP00000318546:A337S;ENSP00000412309:A393S;ENSP00000442180:A229S;ENSP00000385320:A232S;ENSP00000441998:A205S;ENSP00000390637:A393S	ENSP00000318546:A337S	A	+	1	0	SLC14A1	41583753	0.006000	0.16342	0.064000	0.19789	0.629000	0.37895	-0.048000	0.11944	-0.827000	0.04278	0.591000	0.81541	GCT	SLC14A1	-	pfam_Urea_transporter	ENSG00000141469		0.493	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC14A1	HGNC	protein_coding	OTTHUMT00000255860.2		0	51	0	G	NM_015865		43329755	1			no_errors	ENST00000415427	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.383	T	T	43329755	G	T	43329755	3	4	172	1	0	0	0	0	1	0	0	0	14441	971	34	3	1211	3	SLC14A1	18	43329755	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	13461971	43329755	34747493	163	43307											
RNF165	494470	genome.wustl.edu	37	chr18	44036483	44036483	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	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	tctccctcctctcttccagaCgcctaccctgtatgcatctc	5	13	4	19	1	3	1	0	0	3	1	8	1	5	1	5	0	2	2	5	0	2	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr18:44036483C>T	ENST00000269439.7	+	8	976	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C	RNF165_ENST00000543885.1_Splice_Site_p.R117C	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	309							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTCTTCCAGACGCCTACCCTG	0.587																																																	0													106	102	104					18																	44036483		2203	4300	6503	SO:0001630	splice_region_variant	0			BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"RING-type (C3HC4) zinc fingers"	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.924-1C>T	18.37:g.44036483C>T			B3KVD1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.R309C	ENST00000269439.7	37	c.925	CCDS32823.1	18	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204733	0.58234	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.47869	0.83;0.83	4.72	4.72	0.59763	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.64402	D	0.000001	T	0.54935	0.1889	L	0.31120	0.905	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.58624	-0.7604	10	0.72032	D	0.01	.	12.4039	0.55428	0.1685:0.8315:0.0:0.0	.	309	Q6ZSG1	RN165_HUMAN	C	309;117	ENSP00000269439:R309C;ENSP00000444285:R117C	ENSP00000269439:R309C	R	+	1	0	RNF165	42290481	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.282000	0.43461	2.177000	0.69029	0.313000	0.20887	CGC	RNF165	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	ENSG00000141622		0.587	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF165	HGNC	protein_coding	OTTHUMT00000445358.1		0	32	0	C	NM_152470	Missense_Mutation	44036483	1			no_errors	ENST00000269439	ensembl	human	known	74_37	missense	38.89	11	7	SNP	1.000	T	T	44036483	C	T	44036483	5	4	172	1	0	0	0	0	0	0	1	0	13501	550	19	1	955	1	RNF165	18	44036483	Splice_Site	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	706728	44036483	34040765	164	43308											
ODF3L2	284451	genome.wustl.edu	37	chr19	464039	464039	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggggcccggggccgcccCagcatggtgaaggcaggcag	6	2	19	14	4	0	1	0	1	0	0	0	1	0	1	4	7	1	3	4	7	1	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:464039C>A	ENST00000315489.4	-	4	910	c.675G>T	c.(673-675)ctG>ctT	p.L225L	ODF3L2_ENST00000382696.3_Silent_p.L189L	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	225	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						ggggccgccccAGCATGGTGA	0.721																																																	0													8	10	9					19																	464039		2150	4181	6331	SO:0001819	synonymous_variant	0			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.675G>T	19.37:g.464039C>A			Q3SX65|Q8N1L2	Silent	SNP	pfam_SHIPPO-rpt	p.L225	ENST00000315489.4	37	c.675	CCDS12027.1	19																																																																																			ODF3L2	-	pfam_SHIPPO-rpt	ENSG00000181781		0.721	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ODF3L2	HGNC	protein_coding	OTTHUMT00000451849.2	-	0	33	0	C	NM_182577		464039	-1	tier1	-	no_errors	ENST00000315489	ensembl	human	known	74_37	silent	35.00	13	7	SNP	1.000	A	A	464039	C	A	464039	2	1	172	1	0	0	0	0	0	0	0	1	10871	581	21	3		3	ODF3L2	19	464039	Silent	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09		464039	58664944	165	43309											
PLIN3	10226	genome.wustl.edu	37	chr19	4839272	4839273	+	Frame_Shift_Del	DEL	GT	GT	-																															tcccacgagccacgtgacagGtgtgttctgggccacatatt																										TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:4839272_4839273delGT	ENST00000221957.4	-	8	1412_1413	c.1236_1237delAC	c.(1234-1239)acacctfs	p.P413fs	PLIN3_ENST00000585479.1_Frame_Shift_Del_p.P412fs|CTC-518P12.6_ENST00000591657.1_RNA|PLIN3_ENST00000592528.1_Frame_Shift_Del_p.P401fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	413					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)	CACGTGACAGGTGTGTTCTGGG	0.639																																																	0																																										SO:0001589	frameshift_variant	0			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.1236_1237delAC	19.37:g.4839276_4839277delGT	ENSP00000221957:p.Pro413fs		A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Frame_Shift_Del	DEL	pfam_Perilipin,pirsf_Perilipin	p.P413fs	ENST00000221957.4	37	c.1237_1236	CCDS12137.1	19																																																																																			PLIN3	-	pirsf_Perilipin	ENSG00000105355		0.639	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLIN3	HGNC	protein_coding	OTTHUMT00000450436.1		0	83	0	GT	NM_005817		4839273	-1	tier1		no_errors	ENST00000221957	ensembl	human	known	74_37	frame_shift_del	38.60	35	22	DEL	1.000:0.003	-	-	4839273	GT	-	4839272	7	5	172	1	0	1	0	1	0	0	0	0	12130	1261	44	0	71	0	PLIN3	19	4839272	Frame_Shift_Del	DEL	GT	TCGA-VR-AA4D-01A-11D-A37C-09	4375233	4839272	54289711	166	43310											
TRIP10	9322	genome.wustl.edu	37	chr19	6743720	6743720	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacctctgcattcttcaggCcaagcagcaagcccaccttc	9	8	6	18	0	3	0	1	0	2	0	4	0	3	0	5	1	4	3	5	1	2	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:6743720C>T	ENST00000313244.9	+	7	550	c.515C>T	c.(514-516)gCc>gTc	p.A172V	TRIP10_ENST00000600428.1_Splice_Site_p.A64V|TRIP10_ENST00000596758.1_Splice_Site_p.A172V|TRIP10_ENST00000313285.8_Splice_Site_p.A172V			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	172	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						ATTCTTCAGGCCAAGCAGCAA	0.602																																																	0													130	112	118					19																	6743720		2203	4300	6503	SO:0001630	splice_region_variant	0			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.514-1C>T	19.37:g.6743720C>T			B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.A172V	ENST00000313244.9	37	c.515		19	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846287	0.91277	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.18810	2.19;2.19	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.933;0.975;0.999	T	0.41893	-0.9483	10	0.62326	D	0.03	-22.1524	13.6694	0.62416	0.0:1.0:0.0:0.0	.	172;172;172	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	V	172	ENSP00000320493:A172V;ENSP00000320117:A172V	ENSP00000320117:A172V	A	+	2	0	TRIP10	6694720	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	6.822000	0.75277	2.285000	0.76669	0.462000	0.41574	GCC	TRIP10	-	NULL	ENSG00000125733		0.602	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2		0	76	0	C		Missense_Mutation	6743720	1			no_errors	ENST00000313244	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	6743720	C	T	6743720	5	4	172	1	0	0	0	0	0	0	1	0	16602	753	26	3	541	3	TRIP10	19	6743720	Splice_Site	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	1904448	6743720	52385263	167	43311											
CD320	51293	genome.wustl.edu	37	chr19	8367714	8367714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagactggtctccggcaGaggaggatgtggcattcccg	7	9	14	11	2	1	2	0	0	1	2	4	4	3	4	3	5	0	2	3	5	0	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:8367714G>T	ENST00000301458.5	-	4	717	c.653C>A	c.(652-654)tCt>tAt	p.S218Y	CD320_ENST00000596246.1_5'Flank|CD320_ENST00000537716.2_Missense_Mutation_p.S176Y	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	218					cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GTCTCCGGCAGAGGAGGATGT	0.607																																																	0													51	52	51					19																	8367714		2203	4300	6503	SO:0001583	missense	0			AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"CD molecules"	16692	protein-coding gene	gene with protein product	"8D6 antigen"	606475	"CD320 antigen"			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.653C>A	19.37:g.8367714G>T	ENSP00000301458:p.Ser218Tyr		B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.S218Y	ENST00000301458.5	37	c.653	CCDS12198.1	19	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430509	0.25726	.	.	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.96967	-3.28;-4.19	3.37	-0.215	0.13157	.	1.424290	0.04491	N	0.379495	D	0.92941	0.7754	N	0.14661	0.345	0.09310	N	1	P;P	0.49696	0.927;0.881	P;B	0.49683	0.619;0.236	D	0.86913	0.2062	10	0.62326	D	0.03	1.3423	5.4247	0.16419	0.4432:0.0:0.5568:0.0	.	176;218	F5H6D3;Q9NPF0	.;CD320_HUMAN	Y	218;176	ENSP00000301458:S218Y;ENSP00000437697:S176Y	ENSP00000301458:S218Y	S	-	2	0	CD320	8273714	.	.	0.000000	0.03702	0.003000	0.03518	.	.	0.046000	0.15833	0.609000	0.83330	TCT	CD320	-	NULL	ENSG00000167775		0.607	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD320	HGNC	protein_coding	OTTHUMT00000461366.1	-	0	63	0	G	NM_016579		8367714	-1	tier1	-	no_errors	ENST00000301458	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.000	T	T	8367714	G	T	8367714	3	4	172	1	0	0	0	0	1	0	0	0	3011	942	33	3	203	3	CD320	19	8367714	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	1623994	8367714	50761269	168	43312											
ZNF562	54811	genome.wustl.edu	37	chr19	9763755	9763755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttgagtaagcgttgaaGatctattgaaggctttccca	11	14	10	6	1	1	4	0	3	1	1	2	4	2	4	1	1	1	4	1	1	5	7			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:9763755G>T	ENST00000448622.1	-	6	1313	c.1151C>A	c.(1150-1152)tCt>tAt	p.S384Y	ZNF562_ENST00000293648.4_Missense_Mutation_p.S312Y|ZNF562_ENST00000453792.2_Missense_Mutation_p.S315Y|ZNF562_ENST00000590155.1_Missense_Mutation_p.S383Y|ZNF562_ENST00000541032.1_Missense_Mutation_p.S347Y|ZNF562_ENST00000537617.1_Missense_Mutation_p.S268Y|ZNF562_ENST00000453372.2_Missense_Mutation_p.S384Y	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	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)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AAGCGTTGAAGATCTATTGAA	0.423																																																	0													126	118	121					19																	9763755		2203	4300	6503	SO:0001583	missense	0			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"Zinc fingers, C2H2-type", "-"	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.1151C>A	19.37:g.9763755G>T	ENSP00000411784:p.Ser384Tyr		Q32MN2|Q9NXS5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S384Y	ENST00000448622.1	37	c.1151	CCDS45956.1	19	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661680	0.29515	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.01209	5.17;5.17;5.17;5.17;5.17;5.17	1.52	0.371	0.16168	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	M	0.80508	2.5	0.09310	N	1	D;D;D;D;D	0.69078	0.987;0.99;0.978;0.995;0.997	P;D;P;P;D	0.69142	0.838;0.962;0.601;0.795;0.931	T	0.38200	-0.9672	9	0.29301	T	0.29	.	3.7186	0.08448	0.0:0.2773:0.4418:0.2809	.	268;383;347;384;312	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	Y	384;384;312;347;315;268	ENSP00000410734:S384Y;ENSP00000411784:S384Y;ENSP00000293648:S312Y;ENSP00000442614:S347Y;ENSP00000440451:S315Y;ENSP00000445816:S268Y	ENSP00000293648:S312Y	S	-	2	0	ZNF562	9624755	0.000000	0.05858	0.000000	0.03702	0.396000	0.30629	-1.223000	0.02962	0.168000	0.19655	0.313000	0.20887	TCT	ZNF562	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171466		0.423	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF562	HGNC	protein_coding	OTTHUMT00000450239.1		0	92	0	G	NM_017656		9763755	-1			no_errors	ENST00000448622	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	T	T	9763755	G	T	9763755	3	4	172	1	0	0	0	0	1	0	0	0	18041	942	33	3	133	3	ZNF562	19	9763755	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	1396041	9763755	49365228	169	43313											
MAN2B1	4125	genome.wustl.edu	37	chr19	12768292	12768292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgccgcaagctggcGcgcgtagtcgttggccacgt	5	7	14	15	6	0	0	0	0	0	0	1	0	0	0	4	2	3	4	4	2	2	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:12768292G>A	ENST00000456935.2	-	11	1427	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	MAN2B1_ENST00000221363.4_Missense_Mutation_p.R462C|MAN2B1_ENST00000495617.1_5'UTR	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	463					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						GCAAGCTGGCGCGCGTAGTCG	0.687																																																	0													10	8	9					19																	12768292		2155	4224	6379	SO:0001583	missense	0				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.1387C>T	19.37:g.12768292G>A	ENSP00000395473:p.Arg463Cys		G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R463C	ENST00000456935.2	37	c.1387	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552542	0.45487	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.83250	-1.7;-1.7	4.71	1.25	0.21368	Glycoside hydrolase, family 38, central domain (2);	0.510762	0.14075	N	0.343135	D	0.88171	0.6365	M	0.83223	2.63	0.36305	D	0.857266	D;D	0.76494	0.999;0.999	P;D	0.63033	0.854;0.91	D	0.86604	0.1868	10	0.87932	D	0	-9.3899	5.0374	0.14441	0.1913:0.0:0.6356:0.1731	.	462;463	G5E928;O00754	.;MA2B1_HUMAN	C	463;402;462	ENSP00000395473:R463C;ENSP00000221363:R462C	ENSP00000221363:R462C	R	-	1	0	MAN2B1	12629292	0.006000	0.16342	0.014000	0.15608	0.100000	0.18952	0.898000	0.28404	0.356000	0.24157	0.313000	0.20887	CGC	MAN2B1	-	pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom	ENSG00000104774		0.687	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	-	0	29	0	G			12768292	-1	tier1	-	no_errors	ENST00000456935	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.530	A	A	12768292	G	A	12768292	3	1	172	1	0	0	0	0	1	0	0	0	9254	1087	38	1	1704	1	MAN2B1	19	12768292	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	3004537	12768292	46360691	170	43314											
TSHZ3	57616	genome.wustl.edu	37	chr19	31768189	31768189	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggcattctcgcgtagcggcGagtttgacatgaatgatacg	10	10	13	8	5	1	3	0	3	1	0	2	4	1	3	0	2	2	3	0	2	3	4			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:31768189G>C	ENST00000240587.4	-	2	2837	c.2510C>G	c.(2509-2511)tCg>tGg	p.S837W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	837					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)					GCGTAGCGGCGAGTTTGACAT	0.532																																																	0													146	136	139					19																	31768189		2203	4300	6503	SO:0001583	missense	0			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.2510C>G	19.37:g.31768189G>C	ENSP00000240587:p.Ser837Trp		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S837W	ENST00000240587.4	37	c.2510	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996494	0.74818	.	.	ENSG00000121297	ENST00000240587	T	0.19105	2.17	5.37	5.37	0.77165	.	0.127637	0.56097	D	0.000036	T	0.44705	0.1306	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.35574	-0.9783	10	0.87932	D	0	-13.8669	19.1085	0.93307	0.0:0.0:1.0:0.0	.	837	Q63HK5	TSH3_HUMAN	W	837	ENSP00000240587:S837W	ENSP00000240587:S837W	S	-	2	0	TSHZ3	36460029	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.314000	0.96306	2.501000	0.84356	0.655000	0.94253	TCG	TSHZ3	-	NULL	ENSG00000121297		0.532	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0	27	0	G	NM_020856		31768189	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	C	C	31768189	G	C	31768189	3	2	172	1	0	0	0	0	1	0	0	0	16673	1059	37	5	739	5	TSHZ3	19	31768189	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	18999897	31768189	27360794	171	43315											
FUT1	2523	genome.wustl.edu	37	chr19	49254520	49254520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggccaggcagagctgacGatggctccggagccacatgg	10	4	16	11	2	0	2	0	1	0	1	1	5	1	3	3	5	2	3	3	5	1	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:49254520G>A	ENST00000310160.3	-	4	993	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	7					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CAGAGCTGACGATGGCTCCGG	0.567																																																	0													49	44	46					19																	49254520		2203	4300	6503	SO:0001583	missense	0				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.19C>T	19.37:g.49254520G>A	ENSP00000312021:p.Arg7Cys		O14505|O14506|O14507	Missense_Mutation	SNP	pfam_Glyco_trans_11	p.R7C	ENST00000310160.3	37	c.19	CCDS12733.1	19	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279540	0.59758	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	T	0.74209	-0.82	5.06	3.95	0.45737	.	1.021960	0.07842	N	0.963193	T	0.78375	0.4273	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	P	0.61592	0.891	T	0.64786	-0.6325	10	0.87932	D	0	-4.1901	10.369	0.44042	0.0:0.0:0.7315:0.2685	.	7	P19526	FUT1_HUMAN	C	7	ENSP00000312021:R7C	ENSP00000312021:R7C	R	-	1	0	FUT1	53946332	0.003000	0.15002	0.001000	0.08648	0.111000	0.19643	1.336000	0.33850	1.064000	0.40671	0.655000	0.94253	CGT	FUT1	-	NULL	ENSG00000174951		0.567	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT1	HGNC	protein_coding	OTTHUMT00000466194.1		0	28	0	G	NM_000148		49254520	-1			no_errors	ENST00000310160	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.003	A	A	49254520	G	A	49254520	3	1	172	1	0	0	0	0	1	0	0	0	6125	1058	37	1	1082	1	FUT1	19	49254520	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	17486331	49254520	9874463	172	43316											
NAPSA	9476	genome.wustl.edu	37	chr19	50861893	50861893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcgcgccaggcccacccgggCgctgctcttcatgtccccgc	3	6	12	20	5	2	0	1	0	1	0	3	0	3	0	5	2	1	2	5	2	0	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:50861893C>T	ENST00000253719.2	-	9	1388	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	394					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CCCACCCGGGCGCTGCTCTTC	0.692																																																	0													16	18	17					19																	50861893		2197	4295	6492	SO:0001583	missense	0			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1180G>A	19.37:g.50861893C>T	ENSP00000253719:p.Ala394Thr		Q8WWD9	Missense_Mutation	SNP	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.A394T	ENST00000253719.2	37	c.1180	CCDS12794.1	19	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277738	0.59758	.	.	ENSG00000131400	ENST00000253719	T	0.53206	0.63	3.24	0.803	0.18691	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.156761	0.30126	N	0.010358	T	0.37892	0.1020	L	0.41906	1.305	0.09310	N	0.999999	D	0.53151	0.958	P	0.46940	0.532	T	0.26430	-1.0103	10	0.66056	D	0.02	.	5.105	0.14779	0.0:0.6411:0.2234:0.1354	.	394	O96009	NAPSA_HUMAN	T	394	ENSP00000253719:A394T	ENSP00000253719:A394T	A	-	1	0	NAPSA	55553705	0.033000	0.19621	0.003000	0.11579	0.005000	0.04900	0.145000	0.16157	0.126000	0.18424	0.313000	0.20887	GCC	NAPSA	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom	ENSG00000131400		0.692	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPSA	HGNC	protein_coding	OTTHUMT00000464714.1	-	0	64	0	C	NM_004851		50861893	-1	tier1	-	no_errors	ENST00000253719	ensembl	human	known	74_37	missense	50.00	38	38	SNP	0.295	T	T	50861893	C	T	50861893	3	4	172	1	0	0	0	0	1	0	0	0	10204	768	27	1	86	1	NAPSA	19	50861893	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	1607373	50861893	8267090	173	43317											
KLK12	43849	genome.wustl.edu	37	chr19	51532672	51532672	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacccccaggacaccagaccTtgaaggactcccccacacac	12	3	7	19	0	0	2	0	1	0	1	1	5	1	4	6	2	0	0	6	2	1	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:51532672T>A	ENST00000525263.1	-	5	752	c.633A>T	c.(631-633)caA>caT	p.Q211H	KLK11_ENST00000453757.3_5'Flank|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250352.11_Missense_Mutation_p.Q101H|KLK11_ENST00000319720.7_5'Flank|KLK11_ENST00000594768.1_5'Flank|KLK12_ENST00000250351.4_Missense_Mutation_p.Q211H|KLK11_ENST00000600362.1_5'Flank|KLK11_ENST00000391804.3_5'Flank|KLK11_ENST00000594458.1_5'Flank|KLK12_ENST00000319590.4_Missense_Mutation_p.Q211H|KLK12_ENST00000529888.1_3'UTR			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACACCAGACCTTGAAGGACTC	0.537																																																	0													68	73	71					19																	51532672		2203	4300	6503	SO:0001583	missense	0				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"Kallikreins"	6360	protein-coding gene	gene with protein product		605539	"kallikrein 12"			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.633A>T	19.37:g.51532672T>A	ENSP00000436458:p.Gln211His		Q9UKR1|Q9UKR2	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q211H	ENST00000525263.1	37	c.633	CCDS12821.1	19	.	.	.	.	.	.	.	.	.	.	t	16.86	3.238706	0.58995	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250352;ENST00000250351	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	4.33	2.01	0.26516	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.299003	0.19115	N	0.122326	D	0.86268	0.5892	L	0.31157	0.91	0.32465	N	0.543614	P;P;P;P	0.52170	0.94;0.833;0.951;0.87	P;P;P;B	0.58391	0.838;0.518;0.82;0.38	D	0.84275	0.0491	10	0.56958	D	0.05	.	3.5754	0.07933	0.1954:0.5839:0.0:0.2207	.	101;101;211;211	B9EGA9;Q49AM7;Q9UKR0-2;Q9UKR0	.;.;.;KLK12_HUMAN	H	211;211;101;211	ENSP00000436458:Q211H;ENSP00000324181:Q211H;ENSP00000250352:Q101H;ENSP00000250351:Q211H	ENSP00000250351:Q211H	Q	-	3	2	KLK12	56224484	0.607000	0.26958	1.000000	0.80357	0.990000	0.78478	-0.440000	0.06888	0.552000	0.29026	-0.355000	0.07637	CAA	KLK12	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000186474		0.537	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLK12	HGNC	protein_coding	OTTHUMT00000386288.1	-	0	51	0	T	NM_019598		51532672	-1	tier1	-	no_errors	ENST00000250351	ensembl	human	known	74_37	missense	28.30	38	15	SNP	0.999	A	A	51532672	T	A	51532672	3	1	172	1	0	0	0	0	1	0	0	0	8427	1606	56	5	179	5	KLK12	19	51532672	Missense_Mutation	SNP	T	TCGA-VR-AA4D-01A-11D-A37C-09	670779	51532672	7596311	174	43318											
FPR1	2357	genome.wustl.edu	37	chr19	52249969	52249969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatttgcacaggaaccagccGaaaggccaatgtcctcccat	13	7	8	13	1	0	0	0	0	0	0	2	2	2	1	5	2	3	1	5	2	4	1	rs374349320		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:52249969G>A	ENST00000595042.1	-	3	420	c.279C>T	c.(277-279)ttC>ttT	p.F93F	FPR1_ENST00000304748.4_Silent_p.F93F	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	93					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGAACCAGCCGAAAGGCCAAT	0.522																																																	0													136	105	116					19																	52249969		2203	4300	6503	SO:0001819	synonymous_variant	0			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.279C>T	19.37:g.52249969G>A			Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt	p.F93	ENST00000595042.1	37	c.279	CCDS12839.1	19																																																																																			FPR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171051		0.522	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR1	HGNC	protein_coding	OTTHUMT00000466905.1	-	0	75	0	G	NM_002029		52249969	-1	tier1	-	no_errors	ENST00000304748	ensembl	human	known	74_37	silent	44.93	38	31	SNP	0.889	A	A	52249969	G	A	52249969	2	1	172	1	0	0	0	0	0	0	0	1	6062	1049	37	1		1	FPR1	19	52249969	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	717297	52249969	6879014	175	43319											
ZNF615	284370	genome.wustl.edu	37	chr19	52497000	52497000	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcgctgatgtctgatGagtgggctcttcaaagcgaa	8	13	13	7	2	3	3	1	3	2	0	4	4	3	3	0	1	1	3	0	1	2	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:52497000G>T	ENST00000602063.1	-	6	1678	c.1329C>A	c.(1327-1329)ctC>ctA	p.L443L	ZNF615_ENST00000594083.1_Silent_p.L454L|ZNF615_ENST00000376716.5_Silent_p.L443L|ZNF615_ENST00000391795.3_Silent_p.L448L|ZNF615_ENST00000598071.1_Silent_p.L454L			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		GATGTCTGATGAGTGGGCTCT	0.443																																																	0													90	76	81					19																	52497000		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1329C>A	19.37:g.52497000G>T			B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L454	ENST00000602063.1	37	c.1362	CCDS12846.1	19																																																																																			ZNF615	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197619		0.443	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	-	0	59	0	G	NM_198480		52497000	-1	tier1	-	no_errors	ENST00000594083	ensembl	human	known	74_37	silent	30.23	30	13	SNP	0.010	T	T	52497000	G	T	52497000	2	4	172	1	0	0	0	0	0	0	0	1	18088	1277	45	3		3	ZNF615	19	52497000	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	247031	52497000	6631983	176	43320											
NLRP5	126206	genome.wustl.edu	37	chr19	56538278	56538278	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctaccctctctgactccaGgacatggaggtgacacatgg	9	10	10	12	0	2	2	0	2	2	0	4	4	3	4	2	4	1	0	2	4	1	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:56538278G>T	ENST00000390649.3	+	7	679		c.e7-1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5						cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTGACTCCAGGACATGGAGG	0.512																																																	0													38	38	38					19																	56538278		1685	3223	4908	SO:0001630	splice_region_variant	0			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.680-1G>T	19.37:g.56538278G>T			A8MTY4|Q86W29	Splice_Site	SNP	-	e7-1	ENST00000390649.3	37	c.680-1	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	G	5.758	0.324307	0.10900	.	.	ENSG00000171487	ENST00000390649	.	.	.	2.72	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.21579	N	0.99963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3999	0.21632	0.0:0.0:0.6104:0.3896	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP5	61230090	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	0.345000	0.19979	0.617000	0.30160	0.655000	0.94253	.	NLRP5	-	-	ENSG00000171487		0.512	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	-	0	26	0	G	NM_153447	Intron	56538278	1	tier1	-	no_errors	ENST00000390649	ensembl	human	known	74_37	splice_site	10.00	36	4	SNP	0.001	T	T	56538278	G	T	56538278	5	4	172	1	0	0	0	0	0	0	1	0	10519	1014	35	3	705	3	NLRP5	19	56538278	Splice_Site	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	4041278	56538278	2590705	177	43321											
RPS5	6193	genome.wustl.edu	37	chr19	58904526	58904526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatcgtcaagcatgccttcGagatcatacacctgctcaca	11	9	7	14	2	3	1	3	0	0	1	5	2	3	1	2	0	4	3	2	0	2	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr19:58904526G>A	ENST00000596046.1	+	2	1141	c.292G>A	c.(292-294)Gag>Aag	p.E98K	RPS5_ENST00000598495.1_Missense_Mutation_p.E119K|RPS5_ENST00000601521.1_Missense_Mutation_p.E98K|RPS5_ENST00000196551.3_Missense_Mutation_p.E98K|AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000598098.1_Intron			P46782	RS5_HUMAN	ribosomal protein S5	98					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GCATGCCTTCGAGATCATACA	0.582																																																	0													87	73	78					19																	58904526		2203	4300	6503	SO:0001583	missense	0			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"S ribosomal proteins"	10426	protein-coding gene	gene with protein product	"40S ribosomal protein S5"	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.292G>A	19.37:g.58904526G>A	ENSP00000472985:p.Glu98Lys		B2R4T2|Q96BN0	Missense_Mutation	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.E98K	ENST00000596046.1	37	c.292	CCDS12978.1	19	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338556	0.60963	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.99	4.99	0.66335	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	T	0.78240	0.4252	M	0.87456	2.885	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.83182	-0.0088	9	0.87932	D	0	-49.4134	16.1479	0.81583	0.0:0.0:1.0:0.0	.	98	P46782	RS5_HUMAN	K	98	.	ENSP00000196551:E98K	E	+	1	0	RPS5	63596338	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	8.324000	0.90005	2.499000	0.84300	0.655000	0.94253	GAG	RPS5	-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	ENSG00000083845		0.582	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1		0	40	0	G	NM_001009		58904526	1			no_errors	ENST00000196551	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	58904526	G	A	58904526	3	1	172	1	0	0	0	0	1	0	0	0	13693	1059	37	1	298	1	RPS5	19	58904526	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	2366248	58904526	224457	178	43322											
NKX2-4	644524	genome.wustl.edu	37	chr20	21377967	21377967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcgccgctgaacttcttgTaggtctcctcgatggggctc	4	12	13	12	3	2	1	0	1	2	0	5	2	2	1	2	4	1	3	2	4	2	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr20:21377967T>C	ENST00000351817.4	-	1	699	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	24					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						GAACTTCTTGTAGGTCTCCTC	0.731																																																	0													10	11	10					20																	21377967		1859	4052	5911	SO:0001583	missense	0				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.71A>G	20.37:g.21377967T>C	ENSP00000345147:p.Tyr24Cys		Q5VZV8	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.Y24C	ENST00000351817.4	37	c.71	CCDS42855.1	20	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334735	0.60853	.	.	ENSG00000125816	ENST00000351817	T	0.73681	-0.77	2.6	1.4	0.22301	.	1.632260	0.04832	U	0.438935	T	0.81148	0.4762	M	0.75085	2.285	0.39072	D	0.960735	D	0.71674	0.998	P	0.54270	0.747	T	0.70171	-0.4945	10	0.56958	D	0.05	.	6.7986	0.23738	0.0:0.0:0.2397:0.7603	.	24	Q9H2Z4	NKX24_HUMAN	C	24	ENSP00000345147:Y24C	ENSP00000345147:Y24C	Y	-	2	0	NKX2-4	21325967	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.937000	0.56575	0.203000	0.20529	0.317000	0.21355	TAC	NKX2-4	-	NULL	ENSG00000125816		0.731	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NKX2-4	HGNC	protein_coding	OTTHUMT00000078270.2	-	0	24	0	T			21377967	-1	tier1	-	no_errors	ENST00000351817	ensembl	human	known	74_37	missense	36.96	29	17	SNP	1.000	C	C	21377967	T	C	21377967	3	2	172	1	0	0	0	0	1	0	0	0	10491	1638	57	4	1001	4	NKX2-4	20	21377967	Missense_Mutation	SNP	T	TCGA-VR-AA4D-01A-11D-A37C-09		21377967	41647553	179	43323											
NCOA6	23054	genome.wustl.edu	37	chr20	33345407	33345407	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgggcttgtgaggcttGctggctgccaaagggatatg	6	12	17	6	0	0	1	0	1	0	0	0	2	0	2	1	4	2	4	1	4	2	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr20:33345407G>A	ENST00000374796.2	-	8	3714	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q382*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	382	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTGAGGCTTGCTGGCTGCCA	0.587																																																	0													95	89	91					20																	33345407		2203	4300	6503	SO:0001587	stop_gained	0			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.1144C>T	20.37:g.33345407G>A	ENSP00000363929:p.Gln382*		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	NULL	p.Q382*	ENST00000374796.2	37	c.1144	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	G	54	23.312878	0.99954	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-3.5116	19.4272	0.94746	0.0:0.0:1.0:0.0	.	.	.	.	X	382;382;339	.	ENSP00000351894:Q382X	Q	-	1	0	NCOA6	32809068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.229000	0.95273	2.590000	0.87494	0.467000	0.42956	CAA	NCOA6	-	NULL	ENSG00000198646		0.587	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2		0	64	0	G	NM_014071		33345407	-1			no_errors	ENST00000359003	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	1.000	A	A	33345407	G	A	33345407	4	1	172	1	0	0	0	0	0	1	0	0	10272	1328	46	3	5083	3	NCOA6	20	33345407	Nonsense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	11967440	33345407	29680113	180	43324											
KIAA1755	85449	genome.wustl.edu	37	chr20	36845807	36845807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcacgttctgcctcccCagcccctctggctgtagctc	3	11	8	19	1	3	0	0	0	3	0	5	0	4	0	5	1	4	5	5	1	1	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr20:36845807C>T	ENST00000279024.4	-	13	3020	c.2749G>A	c.(2749-2751)Ggg>Agg	p.G917R		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	917										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)				TCTGCCTCCCCAGCCCCTCTG	0.672																																																	0													33	28	30					20																	36845807		2203	4300	6503	SO:0001583	missense	0			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.2749G>A	20.37:g.36845807C>T	ENSP00000279024:p.Gly917Arg		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.G917R	ENST00000279024.4	37	c.2749	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	9.617	1.132822	0.21041	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.22945	3.31;1.93	3.86	-3.84	0.04256	.	0.649265	0.12912	N	0.428877	T	0.12860	0.0312	L	0.35723	1.085	0.09310	N	1	B;B	0.29508	0.246;0.018	B;B	0.26094	0.066;0.027	T	0.32534	-0.9903	10	0.15066	T	0.55	.	4.5874	0.12289	0.0:0.2335:0.3204:0.446	.	917;425	Q5JYT7;E9PFS1	K1755_HUMAN;.	R	917;425;216	ENSP00000279024:G917R;ENSP00000393503:G216R	ENSP00000279024:G917R	G	-	1	0	KIAA1755	36279221	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.407000	0.07178	-0.630000	0.05567	0.561000	0.74099	GGG	KIAA1755	-	NULL	ENSG00000149633		0.672	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	-	0	60	0	C	NM_001029864		36845807	-1	tier1	-	no_errors	ENST00000279024	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	T	T	36845807	C	T	36845807	3	4	172	1	0	0	0	0	1	0	0	0	8284	594	21	3	861	3	KIAA1755	20	36845807	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09	3500400	36845807	26179713	181	43325											
LPIN3	64900	genome.wustl.edu	37	chr20	39980508	39980508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccccagtgacatctacctgGatgacttgccctccctggac	7	9	9	16	0	1	2	0	2	1	0	2	4	2	4	5	2	2	0	5	2	1	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr20:39980508G>T	ENST00000373257.3	+	8	1241	c.1150G>T	c.(1150-1152)Gat>Tat	p.D384Y		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	384					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)				CATCTACCTGGATGACTTGCC	0.577																																																	0													118	111	113					20																	39980508		2203	4300	6503	SO:0001583	missense	0			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.1150G>T	20.37:g.39980508G>T	ENSP00000362354:p.Asp384Tyr		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.D384Y	ENST00000373257.3	37	c.1150	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994355	0.74703	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	D	0.85411	-1.98	5.32	4.35	0.52113	.	0.120841	0.53938	N	0.000060	D	0.92740	0.7692	M	0.87682	2.9	0.58432	D	0.999997	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.99	D	0.93360	0.6726	9	.	.	.	-16.1071	13.9329	0.64007	0.0:0.0:0.8465:0.1535	.	385;384	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	Y	384;48	ENSP00000362354:D384Y	.	D	+	1	0	LPIN3	39413922	1.000000	0.71417	0.819000	0.32651	0.898000	0.52572	7.955000	0.87856	1.185000	0.42971	0.563000	0.77884	GAT	LPIN3	-	NULL	ENSG00000132793		0.577	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0	55	0	G	NM_022896		39980508	1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	36.59	26	15	SNP	1.000	T	T	39980508	G	T	39980508	3	4	172	1	0	0	0	0	1	0	0	0	8955	1174	41	3	1176	3	LPIN3	20	39980508	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	3134701	39980508	23045012	182	43326											
KRTAP10-5	386680	genome.wustl.edu	37	chr21	46000435	46000435	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaagcgctggagcagacGgacatggtgcacgcggccat	10	4	16	11	4	0	1	0	0	0	1	0	4	0	3	1	4	4	4	1	4	1	0			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr21:46000435G>A	ENST00000400372.1	-	1	46	c.21C>T	c.(19-21)tcC>tcT	p.S7S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	7						keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGAGCAGACGGACATGGTGC	0.657																																																	0													77	81	80					21																	46000435		2202	4300	6502	SO:0001819	synonymous_variant	0			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.21C>T	21.37:g.46000435G>A			Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	NULL	p.S7	ENST00000400372.1	37	c.21	CCDS42958.1	21																																																																																			KRTAP10-5	-	NULL	ENSG00000241123		0.657	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-5	HGNC	protein_coding	OTTHUMT00000128042.1	-	0	149	0	G			46000435	-1	tier1	-	no_errors	ENST00000400372	ensembl	human	known	74_37	silent	30.09	79	34	SNP	0.777	A	A	46000435	G	A	46000435	2	1	172	1	0	0	0	0	0	0	0	1	8539	1103	39	1		1	KRTAP10-5	21	46000435	Silent	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09		46000435	2129460	183	43327											
BPIL2	254240	genome.wustl.edu	37	chr22	32810404	32810404	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaggtcggtggaaatcaaAaggaaaccctggaaaggatg	15	7	13	6	1	2	0	2	0	0	0	3	4	2	4	1	6	1	0	1	6	5	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr22:32810404A>G	ENST00000397452.1	-	16	1520	c.1410T>C	c.(1408-1410)ctT>ctC	p.L470L	BPIFC_ENST00000300399.3_Silent_p.L470L|BPIFC_ENST00000432451.2_Silent_p.L227L|BPIFC_ENST00000534972.1_Silent_p.L194L|RTCB_ENST00000451746.2_5'Flank|RTCB_ENST00000216038.5_5'Flank			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	470						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGAAATCAAAAGGAAACCCT	0.458																																																	0													123	108	113					22																	32810404		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1410T>C	22.37:g.32810404A>G			A2RRF1	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L470	ENST00000397452.1	37	c.1410	CCDS13906.1	22																																																																																			BPIFC	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000184459		0.458	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	-	0	62	0	A	NM_174932		32810404	-1	tier1	-	no_errors	ENST00000300399	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.997	G	G	32810404	A	G	32810404	2	3	172	1	0	0	0	0	0	0	0	1	1496	1	1	4		4	BPIL2	22	32810404	Silent	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09		32810404	18494162	184	43328											
APOBEC3G	60489	genome.wustl.edu	37	chr22	39482536	39482536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggctgcgcaccctggccGaggctggggccaaaatttca	8	6	15	12	2	1	0	1	0	0	0	1	1	1	0	3	6	1	3	3	6	2	1	rs142051350		TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr22:39482536G>A	ENST00000407997.3	+	6	1345	c.988G>A	c.(988-990)Gag>Aag	p.E330K	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.E330K	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	330	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)					CACCCTGGCCGAGGCTGGGGC	0.522													g|||	1	0.000199681	0	0	5008	,	,		17387	0		0.001	False		,,,				2504	0																0									LYS/GLU	1,4405		0,1,2202	98	109	106		988	-3	0	22	dbSNP_134	106	0,8600		0,0,4300	no	missense	APOBEC3G	NM_021822.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	330/385	39482536	1,13005	2203	4300	6503	SO:0001583	missense	0			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.988G>A	22.37:g.39482536G>A	ENSP00000385057:p.Glu330Lys		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.E330K	ENST00000407997.3	37	c.988	CCDS13984.1	22	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	0.115	-1.133200	0.01756	2.27E-4	0.0	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.63096	-0.02;-0.02	1.51	-3.01	0.05463	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.34745	0.0908	N	0.11201	0.11	0.09310	N	1	B	0.23442	0.085	B	0.20384	0.029	T	0.17961	-1.0352	9	0.19590	T	0.45	.	6.9267	0.24419	0.5351:0.0:0.4649:0.0	.	330	Q9HC16	ABC3G_HUMAN	K	330	ENSP00000413376:E330K;ENSP00000385057:E330K	ENSP00000385057:E330K	E	+	1	0	APOBEC3G	37812482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.711000	0.05019	-0.912000	0.03837	-0.519000	0.04390	GAG	APOBEC3G	-	pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	ENSG00000239713		0.522	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1		0	55	0	G	NM_021822		39482536	1			no_errors	ENST00000407997	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.000	A	A	39482536	G	A	39482536	3	1	172	1	0	0	0	0	1	0	0	0	794	1059	37	1	1010	1	APOBEC3G	22	39482536	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	6672132	39482536	11822030	185	43329											
WNT7B	7477	genome.wustl.edu	37	chr22	46345866	46345866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagttccagcgtccgaagcGgaactggtactggcactcgt	8	8	13	12	4	0	0	0	0	0	0	3	2	2	1	2	3	4	4	2	3	3	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chr22:46345866G>A	ENST00000339464.4	-	2	606	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	WNT7B_ENST00000409496.3_Missense_Mutation_p.R82C|WNT7B_ENST00000410058.1_Missense_Mutation_p.R78C|WNT7B_ENST00000410089.1_Missense_Mutation_p.R62C	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	78					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)		CGTCCGAAGCGGAACTGGTAC	0.652																																																	0													56	53	54					22																	46345866		2203	4300	6503	SO:0001583	missense	0			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.232C>T	22.37:g.46345866G>A	ENSP00000341032:p.Arg78Cys		B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.R78C	ENST00000339464.4	37	c.232	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549179	0.86127	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	3.82	3.82	0.43975	.	0.153252	0.44483	U	0.000448	D	0.91270	0.7248	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.94120	0.7378	10	0.87932	D	0	.	14.8554	0.70332	0.0:0.0:1.0:0.0	.	82;78	A8K0G1;P56706	.;WNT7B_HUMAN	C	78;62;82;78;11	ENSP00000341032:R78C;ENSP00000386781:R62C;ENSP00000386546:R82C;ENSP00000387217:R78C;ENSP00000392750:R11C	ENSP00000341032:R78C	R	-	1	0	WNT7B	44724530	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.280000	0.95786	1.961000	0.56991	0.561000	0.74099	CGC	WNT7B	-	pfam_Wnt,smart_Wnt	ENSG00000188064		0.652	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	-	0	45	0	G	NM_058238		46345866	-1	tier1	-	no_errors	ENST00000339464	ensembl	human	known	74_37	missense	28.57	29	12	SNP	1.000	A	A	46345866	G	A	46345866	3	1	172	1	0	0	0	0	1	0	0	0	17444	1116	39	1	829	1	WNT7B	22	46345866	Missense_Mutation	SNP	G	TCGA-VR-AA4D-01A-11D-A37C-09	6863330	46345866	4958700	186	43330											
ASMT	438	genome.wustl.edu	37	chrX	1743260	1743260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgggcaggaccagctacCggtgctggggccacctggca	8	5	15	13	1	0	0	0	0	0	0	0	1	0	1	4	6	3	4	4	6	1	1			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chrX:1743260C>T	ENST00000381229.4	+	3	379	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	ASMT_ENST00000381233.3_Missense_Mutation_p.R115W|ASMT_ENST00000381241.3_Missense_Mutation_p.R115W			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	115			R -> W (in dbSNP:rs201053197). {ECO:0000269|PubMed:23349736}.		cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GACCAGCTACCGGTGCTGGGG	0.642													c|||	3	0.000599042	0	0	5008	,	,		19507	0.001		0.001	False		,,,				2504	0.001																0													112	101	105					X																	1743260		2203	4296	6499	SO:0001583	missense	0			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.343C>T	X.37:g.1743260C>T	ENSP00000370627:p.Arg115Trp		B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	pfam_O_MeTrfase_2,pirsf_COMT	p.R115W	ENST00000381229.4	37	c.343		X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	8.867	0.948257	0.18356	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.20881	2.04;2.04;2.04	1.77	0.57	0.17347	.	1.444700	0.05213	U	0.507145	T	0.19886	0.0478	N	0.14661	0.345	0.09310	N	1	P;D	0.53151	0.899;0.958	B;P	0.50617	0.096;0.646	T	0.36625	-0.9740	10	0.66056	D	0.02	.	8.2986	0.32001	0.0:0.7568:0.2432:0.0	.	115;115	P46597-2;P46597-3	.;.	W	115	ENSP00000370639:R115W;ENSP00000370627:R115W;ENSP00000370631:R115W	ENSP00000370627:R115W	R	+	1	2	ASMT	1703260	0.001000	0.12720	0.024000	0.17045	0.021000	0.10359	-0.331000	0.07914	0.653000	0.30826	0.415000	0.27848	CGG	ASMT	-	pfam_O_MeTrfase_2,pirsf_COMT	ENSG00000196433		0.642	ASMT-002	KNOWN	basic|appris_principal	protein_coding	ASMT	HGNC	protein_coding	OTTHUMT00000055612.1	-	0	81	0	C	NM_004043		1743260	1	tier1	-	no_errors	ENST00000381241	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.980	T	T	1743260	C	T	1743260	3	4	172	1	0	0	0	0	1	0	0	0	1046	643	23	1	353	1	ASMT	23	1743260	Missense_Mutation	SNP	C	TCGA-VR-AA4D-01A-11D-A37C-09		1743260	153527300	187	43331											
OTC	5009	genome.wustl.edu	37	chrX	38268008	38268008	+	Missense_Mutation	SNP	A	A	T	1	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	cctttagggttatgagccggAtgctagtgtaaccaagttgg	9	12	13	7	1	0	1	0	1	0	0	0	2	0	2	3	3	3	4	3	3	5	6			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chrX:38268008A>T	ENST00000039007.4	+	7	829	c.677A>T	c.(676-678)gAt>gTt	p.D226V	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	226					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TATGAGCCGGATGCTAGTGTA	0.323																																																	0													120	90	101					X																	38268008		2202	4300	6502	SO:0001583	missense	0			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.677A>T	X.37:g.38268008A>T	ENSP00000039007:p.Asp226Val		A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Orn/put_carbamltrans	p.D226V	ENST00000039007.4	37	c.677	CCDS14247.1	X	.	.	.	.	.	.	.	.	.	.	A	14.51	2.558015	0.45590	.	.	ENSG00000036473	ENST00000039007	D	0.99070	-5.39	5.88	5.88	0.94601	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.087521	0.85682	D	0.000000	D	0.98751	0.9580	M	0.89414	3.03	0.80722	D	1	P	0.47841	0.901	P	0.44811	0.461	D	0.98920	1.0783	10	0.66056	D	0.02	0.204	15.2041	0.73165	1.0:0.0:0.0:0.0	.	226	P00480	OTC_HUMAN	V	226	ENSP00000039007:D226V	ENSP00000039007:D226V	D	+	2	0	OTC	38152952	1.000000	0.71417	0.971000	0.41717	0.239000	0.25481	8.275000	0.89892	1.973000	0.57446	0.486000	0.48141	GAT	OTC	-	pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Orn/put_carbamltrans	ENSG00000036473		0.323	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTC	HGNC	protein_coding	OTTHUMT00000059006.2	-	0	89	0	A			38268008	1	tier1	-	no_errors	ENST00000039007	ensembl	human	known	74_37	missense	39.39	40	26	SNP	1.000	T	T	38268008	A	T	38268008	3	4	172	1	0	0	0	0	1	0	0	0	11340	333	12	5	703	5	OTC	23	38268008	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	36524748	38268008	117002552	188	43332											
SLC16A2	6567	genome.wustl.edu	37	chrX	73751298	73751298	+	Missense_Mutation	SNP	A	A	T	1	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	atgttcaagaaagagcagagAgattccagcaaggataagat	18	7	11	5	0	1	5	1	0	0	5	2	7	2	6	1	1	2	3	1	1	4	3			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chrX:73751298A>T	ENST00000587091.1	+	6	1707	c.1530A>T	c.(1528-1530)agA>agT	p.R510S	SLC16A2_ENST00000276033.5_Missense_Mutation_p.R584S	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	510					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)	AAGAGCAGAGAGATTCCAGCA	0.537																																																	0													104	91	95					X																	73751298		2203	4300	6503	SO:0001583	missense	0				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.1530A>T	X.37:g.73751298A>T	ENSP00000465734:p.Arg510Ser		Q7Z797	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R584S	ENST00000587091.1	37	c.1752	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776529	0.31411	.	.	ENSG00000147100	ENST00000276033	T	0.10477	2.87	5.3	-2.15	0.07102	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.832356	0.10888	N	0.623012	T	0.06781	0.0173	N	0.24115	0.695	0.27786	N	0.942981	B	0.11235	0.004	B	0.08055	0.003	T	0.42258	-0.9462	10	0.17832	T	0.49	.	11.6673	0.51381	0.5913:0.0:0.4087:0.0	.	510	P36021	MOT8_HUMAN	S	584	ENSP00000276033:R584S	ENSP00000276033:R584S	R	+	3	2	SLC16A2	73668023	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	1.509000	0.35780	-0.421000	0.07416	-0.424000	0.05967	AGA	SLC16A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000147100		0.537	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	-	0	27	0	A			73751298	1	tier1	-	no_errors	ENST00000276033	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.985	T	T	73751298	A	T	73751298	3	4	172	1	0	0	0	0	1	0	0	0	14453	301	11	5	1774	5	SLC16A2	23	73751298	Missense_Mutation	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	35483290	73751298	81519262	189	43333											
COL4A5	1287	genome.wustl.edu	37	chrX	107924125	107924125	+	Silent	SNP	A	A	G	1	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	ttctgtgcaggcatgaaaggAcccagtggagtacctggatc	10	9	13	9	0	1	1	0	1	1	0	2	4	1	4	2	4	2	3	2	4	2	2			TCGA-VR-AA4D-01A-11D-A37C-09	TCGA-VR-AA4D-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5	0802d748-b6aa-4262-a6fe-e6c0dc5161a6	g.chrX:107924125A>G	ENST00000361603.2	+	44	4252	c.4008A>G	c.(4006-4008)ggA>ggG	p.G1336G	COL4A5_ENST00000328300.6_Silent_p.G1342G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1336	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCATGAAAGGACCCAGTGGAG	0.468									Alport syndrome with Diffuse Leiomyomatosis																																								0													137	125	129					X																	107924125		2203	4299	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4008A>G	X.37:g.107924125A>G			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1342	ENST00000361603.2	37	c.4026	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen	ENSG00000188153		0.468	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	-	0	32	0	A			107924125	1	tier1	-	no_errors	ENST00000328300	ensembl	human	known	74_37	silent	9.30	38	4	SNP	1.000	G	G	107924125	A	G	107924125	2	3	172	1	0	0	0	0	0	0	0	1	3701	262	10	4		4	COL4A5	23	107924125	Silent	SNP	A	TCGA-VR-AA4D-01A-11D-A37C-09	34172827	107924125	47346435	190	43334											
SKI	6497	genome.wustl.edu	37	chr1	2237626	2237626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgggagctggagcaggcgcgGcaggcccgggtgtgcgacaa	7	3	20	11	5	0	0	0	0	0	0	0	3	0	2	1	6	3	3	1	6	1	0			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:2237626G>A	ENST00000378536.4	+	6	2007	c.1935G>A	c.(1933-1935)cgG>cgA	p.R645R		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	645					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)		AGCAGGCGCGGCAGGCCCGGG	0.687																																					Ovarian(177;144 1678 13697 20086 27838 40755)												0													12	11	11					1																	2237626		2159	4254	6413	SO:0001819	synonymous_variant	0			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.1935G>A	1.37:g.2237626G>A			Q5SYT7	Silent	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.R645	ENST00000378536.4	37	c.1935	CCDS39.1	1																																																																																			SKI	-	NULL	ENSG00000157933		0.687	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	HGNC	protein_coding	OTTHUMT00000004070.1		0	49	0	G	NM_003036		2237626	1			no_errors	ENST00000378536	ensembl	human	known	74_37	silent	9.09	40	4	SNP	1.000	A	A	2237626	G	A	2237626	2	1	173	1	0	0	0	0	0	0	0	1	14402	1190	42	3		3	SKI	1	2237626	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		2237626	247012995	1	43335											
SPOCD1	90853	genome.wustl.edu	37	chr1	32267288	32267288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacacaagcttcactccatGgggtattttcacttcctcct	8	13	6	14	0	2	0	2	0	0	0	5	0	5	0	3	2	1	3	3	2	2	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:32267288G>T	ENST00000360482.2	-	3	1531	c.1402C>A	c.(1402-1404)Cat>Aat	p.H468N	SPOCD1_ENST00000533231.1_Missense_Mutation_p.H468N|SPOCD1_ENST00000257100.3_5'UTR|SPOCD1_ENST00000373648.2_Missense_Mutation_p.H468N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	468					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)		TTCACTCCATGGGGTATTTTC	0.478																																																	0													102	107	105					1																	32267288		2203	4300	6503	SO:0001583	missense	0			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.1402C>A	1.37:g.32267288G>T	ENSP00000353670:p.His468Asn		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.H468N	ENST00000360482.2	37	c.1402	CCDS347.1	1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283209	0.40394	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.30981	2.05;1.51;2.05	4.37	0.275	0.15659	.	.	.	.	.	T	0.13586	0.0329	N	0.14661	0.345	0.09310	N	1	B;B	0.32160	0.358;0.244	B;B	0.24155	0.051;0.023	T	0.16660	-1.0395	9	0.45353	T	0.12	5.5004	3.7832	0.08689	0.2791:0.0:0.5531:0.1678	.	468;468	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	N	468	ENSP00000353670:H468N;ENSP00000362752:H468N;ENSP00000435851:H468N	ENSP00000353670:H468N	H	-	1	0	SPOCD1	32039875	0.018000	0.18449	0.049000	0.19019	0.637000	0.38172	-0.145000	0.10265	0.059000	0.16252	0.655000	0.94253	CAT	SPOCD1	-	NULL	ENSG00000134668		0.478	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1		0	40	0	G	NM_144569		32267288	-1			no_errors	ENST00000360482	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.050	T	T	32267288	G	T	32267288	3	4	173	1	0	0	0	0	1	0	0	0	15125	1348	47	3	2304	3	SPOCD1	1	32267288	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	30029662	32267288	216983333	2	43336											
CDC20	991	genome.wustl.edu	37	chr1	43825769	43825770	+	Splice_Site	INS	-	-	T																															gaaatccgaaatgactattgINStaagtgcatccttatcctcg																										TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:43825769_43825770insT	ENST00000372462.1	+	4	759		c.e4+1		RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Splice_Site|CDC20_ENST00000478882.1_Splice_Site			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)				AATGACTATTGTAAGTGCATCC	0.535																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)												0																																										SO:0001630	splice_region_variant	0			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.556+1->T	1.37:g.43825770_43825770dupT			B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Splice_Site	INS	-	e4+1	ENST00000372462.1	37	c.556+1_556+1	CCDS484.1	1																																																																																			CDC20	-	-	ENSG00000117399		0.535	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	HGNC	protein_coding	OTTHUMT00000019488.1		0	42	0	-	NM_001255	Intron	43825770	1	tier1		no_errors	ENST00000310955	ensembl	human	known	74_37	splice_site_ins	23.33	23	7	INS	1.000:1.000	T	T	43825770	-	T	43825769	8	5	173	1	0	1	1	0	0	0	1	0	3066	1391	48	0	571	0	CDC20	1	43825769	Splice_Site	INS	-	TCGA-VR-AA4G-01A-11D-A37C-09	11558481	43825769	205424852	3	43337											
KLF17	128209	genome.wustl.edu	37	chr1	44596234	44596234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcatggtctttcttcCgttctgatgagcttagacga	6	17	10	8	2	4	3	1	2	3	1	5	4	5	3	1	1	1	4	1	1	1	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:44596234C>T	ENST00000372299.3	+	3	1034	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	326					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)					GTCTTTCTTCCGTTCTGATGA	0.458																																																	0													149	136	140					1																	44596234		2203	4300	6503	SO:0001583	missense	0			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.976C>T	1.37:g.44596234C>T	ENSP00000361373:p.Arg326Cys		Q86VQ7|Q8N805	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R326C	ENST00000372299.3	37	c.976	CCDS508.1	1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927476	0.34002	.	.	ENSG00000171872	ENST00000372299	T	0.71698	-0.59	4.47	3.56	0.40772	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.280447	0.26062	N	0.026574	T	0.78419	0.4280	M	0.62723	1.935	0.52501	D	0.999951	D	0.89917	1.0	D	0.68621	0.959	T	0.79222	-0.1892	10	0.87932	D	0	.	8.3224	0.32136	0.0:0.8957:0.0:0.1043	.	326	Q5JT82	KLF17_HUMAN	C	326	ENSP00000361373:R326C	ENSP00000361373:R326C	R	+	1	0	KLF17	44368821	1.000000	0.71417	0.979000	0.43373	0.311000	0.27955	5.318000	0.65829	1.485000	0.48380	0.561000	0.74099	CGT	KLF17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171872		0.458	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF17	HGNC	protein_coding	OTTHUMT00000026646.1	-	0	57	0	C	NM_173484		44596234	1	tier1	-	no_errors	ENST00000372299	ensembl	human	known	74_37	missense	22.64	41	12	SNP	1.000	T	T	44596234	C	T	44596234	3	4	173	1	0	0	0	0	1	0	0	0	8372	652	23	1	986	1	KLF17	1	44596234	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	770465	44596234	204654387	4	43338											
LRRC41	10489	genome.wustl.edu	37	chr1	46746081	46746081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctacctttgagtgtttgCaaaacaagcccaaaatcctg	12	11	7	11	0	0	1	0	1	0	0	2	1	2	1	4	0	4	2	4	0	6	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:46746081C>T	ENST00000343304.6	-	6	2193	c.1908G>A	c.(1906-1908)ttG>ttA	p.L636L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	636					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGAGTGTTTGCAAAACAAGCC	0.557																																																	0													93	98	96					1																	46746081		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1908G>A	1.37:g.46746081C>T			A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L636	ENST00000343304.6	37	c.1908	CCDS533.1	1																																																																																			LRRC41	-	NULL	ENSG00000132128		0.557	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	-	0	86	0	C	NM_006369		46746081	-1	tier1	-	no_errors	ENST00000343304	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.946	T	T	46746081	C	T	46746081	2	4	173	1	0	0	0	0	0	0	0	1	9034	709	25	3		3	LRRC41	1	46746081	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	2149847	46746081	202504540	5	43339											
STIL	6491	genome.wustl.edu	37	chr1	47748120	47748120	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatcttcccagaagataacTtttgggaagacctaaagaat	15	10	8	8	0	1	4	0	0	1	4	2	5	2	5	2	1	1	1	2	1	6	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:47748120T>A	ENST00000360380.3	-	12	1508	c.1145A>T	c.(1144-1146)aAg>aTg	p.K382M	STIL_ENST00000337817.5_Missense_Mutation_p.K382M|STIL_ENST00000371877.3_Missense_Mutation_p.K382M|STIL_ENST00000396221.2_Missense_Mutation_p.K382M|STIL_ENST00000243182.6_Missense_Mutation_p.K382M	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	382					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)				AGAAGATAACTTTTGGGAAGA	0.388																																																	0													83	85	84					1																	47748120		2203	4300	6503	SO:0001583	missense	0			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.1145A>T	1.37:g.47748120T>A	ENSP00000353544:p.Lys382Met		Q5T0C5|Q68CN9	Missense_Mutation	SNP	NULL	p.K382M	ENST00000360380.3	37	c.1145	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646700	0.47258	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.74	3.39	0.38822	.	0.534254	0.21562	N	0.072548	T	0.57562	0.2062	L	0.57536	1.79	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.73708	0.979;0.979;0.979;0.981;0.981	T	0.48906	-0.8993	10	0.62326	D	0.03	-4.4322	4.1208	0.10104	0.0:0.2103:0.176:0.6137	.	382;335;382;382;382	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	M	382;382;382;382;382;335	ENSP00000353544:K382M;ENSP00000337367:K382M;ENSP00000360944:K382M;ENSP00000379523:K382M;ENSP00000243182:K382M;ENSP00000411664:K335M	ENSP00000243182:K382M	K	-	2	0	STIL	47520707	0.916000	0.31088	0.249000	0.24280	0.719000	0.41307	1.488000	0.35551	0.424000	0.26061	0.459000	0.35465	AAG	STIL	-	NULL	ENSG00000123473		0.388	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2		0	67	0	T	NM_003035		47748120	-1			no_errors	ENST00000371877	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.144	A	A	47748120	T	A	47748120	3	1	173	1	0	0	0	0	1	0	0	0	15329	1609	56	5	2749	5	STIL	1	47748120	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	1002039	47748120	201502501	6	43340											
ASB17	127247	genome.wustl.edu	37	chr1	76397637	76397637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttttgtcttcttgagaaGcaattccacaaagtcaggat	11	14	8	8	0	4	1	1	1	3	1	5	3	5	2	1	1	1	1	1	1	3	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:76397637G>A	ENST00000284142.6	-	1	479	c.340C>T	c.(340-342)Ctt>Ttt	p.L114F		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	114					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TTCTTGAGAAGCAATTCCACA	0.338																																																	0													64	63	63					1																	76397637		2203	4299	6502	SO:0001583	missense	0			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.340C>T	1.37:g.76397637G>A	ENSP00000284142:p.Leu114Phe		B1APB8|Q8N0X5	Missense_Mutation	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.L114F	ENST00000284142.6	37	c.340	CCDS671.1	1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488172	0.64074	.	.	ENSG00000154007	ENST00000284142	T	0.80909	-1.43	5.97	5.04	0.67666	Ankyrin repeat-containing domain (1);	0.000000	0.48286	D	0.000189	T	0.68897	0.3051	L	0.27053	0.805	0.36217	D	0.851711	D	0.59767	0.986	P	0.50970	0.655	T	0.76435	-0.2960	10	0.87932	D	0	.	12.3619	0.55207	0.0:0.0:0.8313:0.1687	.	114	Q8WXJ9	ASB17_HUMAN	F	114	ENSP00000284142:L114F	ENSP00000284142:L114F	L	-	1	0	ASB17	76170225	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.367000	0.44213	1.488000	0.48433	0.655000	0.94253	CTT	ASB17	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000154007		0.338	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1		0	38	0	G	NM_080868		76397637	-1			no_errors	ENST00000284142	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	76397637	G	A	76397637	3	1	173	1	0	0	0	0	1	0	0	0	1022	971	34	3	559	3	ASB17	1	76397637	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	28649517	76397637	172852984	7	43341											
ASB17	127247	genome.wustl.edu	37	chr1	76397722	76397722	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcagtgaagtcgaggttAaaacttacttcaaaacggta	15	12	8	6	2	2	1	2	1	0	0	3	2	2	1	0	2	3	2	0	2	7	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:76397722A>G	ENST00000284142.6	-	1	394	c.255T>C	c.(253-255)ttT>ttC	p.F85F		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	85					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						AGTCGAGGTTAAAACTTACTT	0.373																																																	0													114	106	109					1																	76397722		2203	4300	6503	SO:0001819	synonymous_variant	0			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.255T>C	1.37:g.76397722A>G			B1APB8|Q8N0X5	Silent	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.F85	ENST00000284142.6	37	c.255	CCDS671.1	1																																																																																			ASB17	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000154007		0.373	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	-	0	55	0	A	NM_080868		76397722	-1	tier1	-	no_errors	ENST00000284142	ensembl	human	known	74_37	silent	34.48	38	20	SNP	1.000	G	G	76397722	A	G	76397722	2	3	173	1	0	0	0	0	0	0	0	1	1022	359	13	4		4	ASB17	1	76397722	Silent	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	85	76397722	172852899	8	43342											
CTBS	1486	genome.wustl.edu	37	chr1	85040024	85040024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcagcgccagcagcgcCagcagcgctagacccgggac	9	1	14	17	4	0	1	0	0	0	1	0	2	0	2	4	1	6	4	4	1	1	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:85040024C>T	ENST00000370630.5	-	1	123	c.75G>A	c.(73-75)ctG>ctA	p.L25L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	25					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ccagcagcgccagcagcgcTA	0.726																																																	0													3	4	4					1																	85040024		1689	3502	5191	SO:0001819	synonymous_variant	0			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.75G>A	1.37:g.85040024C>T			Q5VX50	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.L25	ENST00000370630.5	37	c.75	CCDS698.1	1																																																																																			CTBS	-	NULL	ENSG00000117151		0.726	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBS	HGNC	protein_coding	OTTHUMT00000027457.2		0	14	0	C	NM_004388		85040024	-1			no_errors	ENST00000370630	ensembl	human	known	74_37	silent	18.18	9	2	SNP	0.006	T	T	85040024	C	T	85040024	2	4	173	1	0	0	0	0	0	0	0	1	4008	581	21	3		3	CTBS	1	85040024	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	8642302	85040024	164210597	9	43343											
ZNF644	84146	genome.wustl.edu	37	chr1	91406699	91406699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcttcaggcagagtcaacGtattatttttctgaaatgat	11	16	8	6	1	4	3	2	2	2	1	4	3	4	3	0	1	1	3	0	1	4	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:91406699G>T	ENST00000370440.1	-	3	429	c.212C>A	c.(211-213)aCg>aAg	p.T71K	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T71K|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	71					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)		CAGAGTCAACGTATTATTTTT	0.388																																																	0													158	151	153					1																	91406699		2203	4300	6503	SO:0001583	missense	0			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.212C>A	1.37:g.91406699G>T	ENSP00000359469:p.Thr71Lys		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T71K	ENST00000370440.1	37	c.212	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	G	9.393	1.075906	0.20227	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00609	6.24;6.24	5.91	5.0	0.66597	.	0.277101	0.32287	N	0.006316	T	0.00271	0.0008	N	0.24115	0.695	0.34377	D	0.69271	B	0.28713	0.22	B	0.25987	0.065	T	0.63457	-0.6633	10	0.56958	D	0.05	-0.5362	16.6192	0.84925	0.0:0.0:0.8689:0.1311	.	71	Q9H582	ZN644_HUMAN	K	71	ENSP00000359469:T71K;ENSP00000337008:T71K	ENSP00000337008:T71K	T	-	2	0	ZNF644	91179287	0.592000	0.26832	0.020000	0.16555	0.768000	0.43524	3.183000	0.50918	1.504000	0.48704	-0.152000	0.13540	ACG	ZNF644	-	NULL	ENSG00000122482		0.388	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2		0	36	0	G	NM_032186		91406699	-1			no_errors	ENST00000337393	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.964	T	T	91406699	G	T	91406699	3	4	173	1	0	0	0	0	1	0	0	0	18108	1145	40	2	3787	2	ZNF644	1	91406699	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	6366675	91406699	157843922	10	43344											
SPTA1	6708	genome.wustl.edu	37	chr1	158651381	158651381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctggaacttcagggccCgcagcaactggtcacccttc	8	8	10	15	1	2	0	2	0	0	0	3	1	2	1	2	3	4	3	2	3	2	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:158651381C>T	ENST00000368147.4	-	4	647	c.467G>A	c.(466-468)cGg>cAg	p.R156Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	156					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)					CTTCAGGGCCCGCAGCAACTG	0.527																																																	0													173	178	176					1																	158651381		2029	4185	6214	SO:0001583	missense	0			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.467G>A	1.37:g.158651381C>T	ENSP00000357129:p.Arg156Gln		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R156Q	ENST00000368147.4	37	c.467	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	0.612	-0.824756	0.02755	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.32023	1.47;1.47	5.15	-4.02	0.04034	.	.	.	.	.	T	0.03011	0.0089	N	0.03224	-0.385	0.34689	D	0.725559	B	0.02656	0.0	B	0.04013	0.001	T	0.45527	-0.9255	9	0.02654	T	1	.	13.238	0.59982	0.0:0.2268:0.0:0.7732	.	156	P02549	SPTA1_HUMAN	Q	156	ENSP00000357130:R156Q;ENSP00000357129:R156Q	ENSP00000357129:R156Q	R	-	2	0	SPTA1	156918005	0.991000	0.36638	0.085000	0.20634	0.102000	0.19082	0.191000	0.17076	-0.907000	0.03862	-0.244000	0.11960	CGG	SPTA1	-	NULL	ENSG00000163554		0.527	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	63	0	C	NM_003126		158651381	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.995	T	T	158651381	C	T	158651381	3	4	173	1	0	0	0	0	1	0	0	0	15163	652	23	1	6988	1	SPTA1	1	158651381	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	67244682	158651381	90599240	11	43345											
GPR161	23432	genome.wustl.edu	37	chr1	168066118	168066118	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgaagaggaggtggaggtgcTggagttcttcctcccggtcc	6	10	16	9	1	1	2	0	1	1	1	4	5	4	5	3	6	1	2	3	6	1	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:168066118T>C	ENST00000367838.1	-	5	1040	c.727A>G	c.(727-729)Agc>Ggc	p.S243G	GPR161_ENST00000539777.1_Missense_Mutation_p.S165G|GPR161_ENST00000271357.5_Missense_Mutation_p.S243G|GPR161_ENST00000367836.1_Missense_Mutation_p.S111G|GPR161_ENST00000546300.1_Missense_Mutation_p.S129G|GPR161_ENST00000537209.1_Missense_Mutation_p.S263G|GPR161_ENST00000361697.2_Missense_Mutation_p.S243G|GPR161_ENST00000367835.1_Missense_Mutation_p.S243G	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	243					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)					GTGGAGGTGCTGGAGTTCTTC	0.597																																																	0													104	108	107					1																	168066118		2203	4300	6503	SO:0001583	missense	0			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.727A>G	1.37:g.168066118T>C	ENSP00000356812:p.Ser243Gly		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S263G	ENST00000367838.1	37	c.787	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395741	0.62177	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;D;T;T;T;T;T	0.82803	-0.15;-0.15;-1.65;-0.15;-1.15;-1.12;-0.06;-0.15	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.075333	0.85682	D	0.000000	T	0.76097	0.3940	M	0.75615	2.305	0.42300	D	0.992179	B;B;B;B;B;B	0.29988	0.102;0.201;0.264;0.154;0.034;0.042	B;B;B;B;B;B	0.31442	0.079;0.13;0.124;0.124;0.036;0.089	T	0.77180	-0.2682	9	0.35671	T	0.21	-40.0045	15.0408	0.71788	0.0:0.0:0.0:1.0	.	263;129;165;263;243;243	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	G	243;243;111;243;129;165;263;243	ENSP00000356812:S243G;ENSP00000271357:S243G;ENSP00000356810:S111G;ENSP00000356809:S243G;ENSP00000444348:S129G;ENSP00000437576:S165G;ENSP00000441039:S263G;ENSP00000355194:S243G	ENSP00000271357:S243G	S	-	1	0	GPR161	166332742	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.854000	0.86942	2.090000	0.63153	0.459000	0.35465	AGC	GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000143147		0.597	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	-	0	26	0	T	NM_007369		168066118	-1	tier1	-	no_errors	ENST00000537209	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	C	C	168066118	T	C	168066118	3	2	173	1	0	0	0	0	1	0	0	0	6691	1580	55	4	878	4	GPR161	1	168066118	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	9414737	168066118	81184503	12	43346											
PLXNA2	5362	genome.wustl.edu	37	chr1	208252790	208252790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgcacacttgtagaGatggactgcaaagagagcag	12	7	14	8	0	0	2	0	0	0	2	0	5	0	3	0	2	3	5	0	2	2	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:208252790G>T	ENST00000367033.3	-	12	3158	c.2401C>A	c.(2401-2403)Ctc>Atc	p.L801I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	801					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)		CACTTGTAGAGATGGACTGCA	0.567																																																	0													18	19	18					1																	208252790		2201	4299	6500	SO:0001583	missense	0			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.2401C>A	1.37:g.208252790G>T	ENSP00000356000:p.Leu801Ile		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L801I	ENST00000367033.3	37	c.2401	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070045	0.76301	.	.	ENSG00000076356	ENST00000367033	D	0.84223	-1.82	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.90031	0.6887	M	0.81112	2.525	0.80722	D	1	D	0.60160	0.987	P	0.51999	0.687	D	0.88533	0.3104	10	0.30854	T	0.27	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	801	O75051	PLXA2_HUMAN	I	801	ENSP00000356000:L801I	ENSP00000356000:L801I	L	-	1	0	PLXNA2	206319413	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	6.837000	0.75354	2.630000	0.89119	0.655000	0.94253	CTC	PLXNA2	-	superfamily_Plexin-like_fold	ENSG00000076356		0.567	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6		0	19	0	G	NM_025179		208252790	-1			no_errors	ENST00000367033	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	T	T	208252790	G	T	208252790	3	4	173	1	0	0	0	0	1	0	0	0	12159	942	33	3	3367	3	PLXNA2	1	208252790	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	40186672	208252790	40997831	13	43347											
OBSCN	84033	genome.wustl.edu	37	chr1	228527712	228527712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcttcatcaagaaccaGgcggcctttgagcagtacct	10	10	10	11	1	2	2	2	1	0	1	2	2	2	2	3	2	4	3	3	2	3	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:228527712G>T	ENST00000422127.1	+	70	17369	c.17325G>T	c.(17323-17325)caG>caT	p.Q5775H	OBSCN_ENST00000570156.2_Missense_Mutation_p.Q6732H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q3409H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q2894H|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q5775H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5775	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)				TCAAGAACCAGGCGGCCTTTG	0.612																																																	0													102	114	110					1																	228527712		2135	4256	6391	SO:0001583	missense	0			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.17325G>T	1.37:g.228527712G>T	ENSP00000409493:p.Gln5775His		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.Q5775H	ENST00000422127.1	37	c.17325	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.129564|4.129564	0.77549|0.77549	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.|T;T;T;T	.|0.63744	.|-0.06;-0.06;-0.06;-0.06	4.98|4.98	3.06|3.06	0.35304|0.35304	.|Dbl homology (DH) domain (4);	.|0.235950	.|0.34580	.|N	.|0.003844	T|T	0.52661|0.52661	0.1748|0.1748	N|N	0.22421|0.22421	0.69|0.69	0.33143|0.33143	D|D	0.54464|0.54464	.|P;P	.|0.49696	.|0.927;0.911	.|P;B	.|0.48488	.|0.579;0.443	T|T	0.66504|0.66504	-0.5907|-0.5907	5|10	.|0.72032	.|D	.|0.01	.|.	10.2834|10.2834	0.43554|0.43554	0.2643:0.0:0.7357:0.0|0.2643:0.0:0.7357:0.0	.|.	.|5775;5775	.|Q5VST9;Q5VST9-3	.|OBSCN_HUMAN;.	C|H	392|5775;5775;3409;2894	.|ENSP00000284548:Q5775H;ENSP00000409493:Q5775H;ENSP00000355668:Q3409H;ENSP00000355670:Q2894H	.|ENSP00000284548:Q5775H	G|Q	+|+	1|3	0|2	OBSCN|OBSCN	226594335|226594335	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.960000|0.960000	0.62799|0.62799	1.220000|1.220000	0.32491|0.32491	1.330000|1.330000	0.45394|0.45394	0.462000|0.462000	0.41574|0.41574	GGC|CAG	OBSCN	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000154358		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	17	0	G	NM_052843		228527712	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	25.93	20	7	SNP	0.944	T	T	228527712	G	T	228527712	3	4	173	1	0	0	0	0	1	0	0	0	10851	991	35	3	17599	3	OBSCN	1	228527712	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	20274922	228527712	20722909	14	43348											
RYR2	6262	genome.wustl.edu	37	chr1	237608790	237608790	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcacagcccgagttatccgGagcacagtcttccttttcaa	9	10	8	14	3	2	0	1	0	1	0	4	2	4	1	3	1	2	3	3	1	2	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:237608790G>T	ENST00000366574.2	+	14	1577	c.1260G>T	c.(1258-1260)cgG>cgT	p.R420R	RYR2_ENST00000542537.1_Silent_p.R404R|RYR2_ENST00000360064.6_Silent_p.R418R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	420			R -> W (in CPVT1; dbSNP:rs190140598). {ECO:0000269|PubMed:12106942, ECO:0000269|PubMed:15544015}.		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)			GAGTTATCCGGAGCACAGTCT	0.383																																																	0													142	137	138					1																	237608790		1884	4110	5994	SO:0001819	synonymous_variant	0			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.1260G>T	1.37:g.237608790G>T			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R418	ENST00000366574.2	37	c.1254	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	68	0	G	NM_001035		237608790	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.993	T	T	237608790	G	T	237608790	2	4	173	1	0	0	0	0	0	0	0	1	13814	1161	41	3		3	RYR2	1	237608790	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	9081078	237608790	11641831	15	43349											
OR2G6	391211	genome.wustl.edu	37	chr1	248685672	248685672	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcctttgggacctgttCgtctcacctggttgtggtca	6	13	12	10	1	2	0	2	0	1	0	4	1	2	1	3	4	0	2	3	4	1	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr1:248685672C>A	ENST00000343414.4	+	1	757	c.725C>A	c.(724-726)tCg>tAg	p.S242*		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGACCTGTTCGTCTCACCTG	0.463																																																	0													111	112	112					1																	248685672		2203	4300	6503	SO:0001587	stop_gained	0				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.725C>A	1.37:g.248685672C>A	ENSP00000341291:p.Ser242*		B2RP33	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S242*	ENST00000343414.4	37	c.725	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	N	16.43	3.120625	0.56613	.	.	ENSG00000188558	ENST00000343414	.	.	.	3.83	1.8	0.24995	.	0.000000	0.43579	U	0.000545	.	.	.	.	.	.	0.53688	D	0.999979	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	7.2445	0.26114	0.0:0.5071:0.3871:0.1058	.	.	.	.	X	242	.	ENSP00000341291:S242X	S	+	2	0	OR2G6	246752295	0.000000	0.05858	0.480000	0.27341	0.651000	0.38670	-0.723000	0.04952	0.820000	0.34516	0.400000	0.26472	TCG	OR2G6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000188558		0.463	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	HGNC	protein_coding	OTTHUMT00000097358.1	-	0	60	0	C	XM_372842		248685672	1	tier1	-	no_errors	ENST00000343414	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	0.000	A	A	248685672	C	A	248685672	4	1	173	1	0	0	0	0	0	1	0	0	11039	893	31	2	727	2	OR2G6	1	248685672	Nonsense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	11076882	248685672	564949	16	43350											
DDX1	1653	genome.wustl.edu	37	chr2	15768942	15768942	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggtctggcaatttccctGgtggcaacagaaaaagaaaa	15	8	11	7	0	1	2	0	0	1	2	2	2	2	2	1	4	1	2	1	4	6	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:15768942G>T	ENST00000381341.2	+	24	2243	c.1854G>T	c.(1852-1854)ctG>ctT	p.L618L	DDX1_ENST00000233084.3_Silent_p.L618L			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	618	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CAATTTCCCTGGTGGCAACAG	0.343																																																	0													94	95	95					2																	15768942		2203	4300	6503	SO:0001819	synonymous_variant	0			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1854G>T	2.37:g.15768942G>T			B4DME8|B4DPN6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L618	ENST00000381341.2	37	c.1854	CCDS1686.1	2																																																																																			DDX1	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000079785		0.343	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	HGNC	protein_coding	OTTHUMT00000207141.2		0	23	0	G	NM_004939		15768942	1			no_errors	ENST00000233084	ensembl	human	known	74_37	silent	12.12	29	4	SNP	1.000	T	T	15768942	G	T	15768942	2	4	173	1	0	0	0	0	0	0	0	1	4350	1335	47	3		3	DDX1	2	15768942	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		15768942	227430431	17	43351											
AGBL5	60509	genome.wustl.edu	37	chr2	27276797	27276797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtgttatcctttgttCatcgtttcgtggagggccgt	4	18	12	7	3	1	0	1	0	0	0	4	1	2	1	2	2	0	4	2	2	1	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:27276797C>A	ENST00000360131.4	+	4	580	c.421C>A	c.(421-423)Cat>Aat	p.H141N	AGBL5_ENST00000323064.8_Missense_Mutation_p.H141N|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	141					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.H141Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCTTTGTTCATCGTTTCGT	0.552																																																	1	Substitution - Missense(1)	lung(1)											194	169	177					2																	27276797		2203	4300	6503	SO:0001583	missense	0			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.421C>A	2.37:g.27276797C>A	ENSP00000353249:p.His141Asn		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.H141N	ENST00000360131.4	37	c.421	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515777	0.64634	.	.	ENSG00000084693	ENST00000453161;ENST00000323064;ENST00000360131	T;T	0.15256	2.46;2.44	5.51	5.51	0.81932	.	0.084520	0.85682	D	0.000000	T	0.28830	0.0715	M	0.85630	2.765	0.58432	D	0.999996	B;B;B	0.27679	0.185;0.043;0.162	B;B;B	0.27380	0.065;0.047;0.079	T	0.07083	-1.0791	10	0.29301	T	0.29	-6.9724	18.1957	0.89820	0.0:1.0:0.0:0.0	.	141;141;141	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	N	141	ENSP00000323681:H141N;ENSP00000353249:H141N	ENSP00000323681:H141N	H	+	1	0	AGBL5	27130301	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.254000	0.78329	2.590000	0.87494	0.561000	0.74099	CAT	AGBL5	-	NULL	ENSG00000084693		0.552	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	-	0	58	0	C	NM_021831		27276797	1	tier1	-	no_errors	ENST00000360131	ensembl	human	known	74_37	missense	32.81	43	21	SNP	1.000	A	A	27276797	C	A	27276797	3	1	173	1	0	0	0	0	1	0	0	0	378	826	29	3	431	3	AGBL5	2	27276797	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	11507855	27276797	215922576	18	43352											
AFTPH	54812	genome.wustl.edu	37	chr2	64796270	64796270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacaggatatccatgatgCacatggcttgagataccagt	12	10	10	9	0	0	2	0	2	0	1	1	4	1	3	2	2	3	3	2	2	3	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:64796270C>T	ENST00000422803.1	+	4	2446	c.2132C>T	c.(2131-2133)gCa>gTa	p.A711V	AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409183.1_Missense_Mutation_p.A342V|AFTPH_ENST00000238855.7_Missense_Mutation_p.A711V|AFTPH_ENST00000409933.1_Missense_Mutation_p.A711V|AFTPH_ENST00000238856.4_Missense_Mutation_p.A711V			Q6ULP2	AFTIN_HUMAN	aftiphilin	711					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						ATCCATGATGCACATGGCTTG	0.463																																																	0													165	155	158					2																	64796270		2203	4300	6503	SO:0001583	missense	0			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.2132C>T	2.37:g.64796270C>T	ENSP00000397726:p.Ala711Val		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	NULL	p.A711V	ENST00000422803.1	37	c.2132		2	.	.	.	.	.	.	.	.	.	.	C	34	5.324715	0.95708	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.61040	1.12;1.16;1.16;1.16;0.14	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.997;0.998	D;D;D;D	0.87578	0.994;0.998;0.973;0.955	T	0.78425	-0.2209	10	0.59425	D	0.04	-3.2586	18.2232	0.89907	0.0:1.0:0.0:0.0	.	711;711;711;711	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	V	711;711;711;711;342	ENSP00000238856:A711V;ENSP00000397726:A711V;ENSP00000238855:A711V;ENSP00000387071:A711V;ENSP00000386913:A342V	ENSP00000238855:A711V	A	+	2	0	AFTPH	64649774	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.362000	0.80069	0.650000	0.86243	GCA	AFTPH	-	NULL	ENSG00000119844		0.463	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		-	0	62	0	C	NM_017657		64796270	1	tier1	-	no_errors	ENST00000422803	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	64796270	C	T	64796270	3	4	173	1	0	0	0	0	1	0	0	0	364	710	25	3	2142	3	AFTPH	2	64796270	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	37519473	64796270	178403103	19	43353											
ALMS1	7840	genome.wustl.edu	37	chr2	73718079	73718079	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggattgtgtagtggaaaagaAtaatcaacataagcctaaat	18	10	9	4	0	1	1	1	0	0	1	1	3	1	3	1	2	2	1	1	2	9	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:73718079A>C	ENST00000264448.6	+	10	9101	c.8990A>C	c.(8989-8991)aAt>aCt	p.N2997T	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.N2955T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2997					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						GTGGAAAAGAATAATCAACAT	0.398																																																	0													105	100	101					2																	73718079		1908	4119	6027	SO:0001583	missense	0			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.8990A>C	2.37:g.73718079A>C	ENSP00000264448:p.Asn2997Thr		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.N2997T	ENST00000264448.6	37	c.8990	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	A	11.78	1.740152	0.30865	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06849	3.25;3.25	3.77	3.77	0.43336	.	0.854537	0.09900	N	0.741210	T	0.08846	0.0219	L	0.43152	1.355	0.80722	D	1	P;P;P	0.46512	0.879;0.718;0.718	B;B;B	0.39258	0.295;0.295;0.295	T	0.20840	-1.0263	10	0.72032	D	0.01	.	9.2032	0.37272	1.0:0.0:0.0:0.0	.	2997;2955;2997	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	T	2955;2997	ENSP00000386627:N2955T;ENSP00000264448:N2997T	ENSP00000264448:N2997T	N	+	2	0	ALMS1	73571587	0.977000	0.34250	0.677000	0.29947	0.960000	0.62799	3.303000	0.51858	1.950000	0.56595	0.528000	0.53228	AAT	ALMS1	-	NULL	ENSG00000116127		0.398	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0	36	0	A	NM_015120		73718079	1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.719	C	C	73718079	A	C	73718079	3	2	173	1	0	0	0	0	1	0	0	0	535	101	4	4	9028	4	ALMS1	2	73718079	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	8921809	73718079	169481294	20	43354											
SLC9A4	389015	genome.wustl.edu	37	chr2	103095550	103095550	+	Frame_Shift_Del	DEL	C	C	-																															attgggggccctgatcaacgCcttgggcattggcctctccc																										TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:103095550delC	ENST00000295269.4	+	2	966	c.509delC	c.(508-510)gccfs	p.A170fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	170					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						CTGATCAACGCCTTGGGCATT	0.612																																																	0													49	47	48					2																	103095550		2203	4300	6503	SO:0001589	frameshift_variant	0				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.509delC	2.37:g.103095550delC	ENSP00000295269:p.Ala170fs		Q69YK0	Frame_Shift_Del	DEL	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.L171fs	ENST00000295269.4	37	c.509	CCDS33264.1	2																																																																																			SLC9A4	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000180251		0.612	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1		0	50	0	C	NM_001011552.3		103095550	1	tier1		no_errors	ENST00000295269	ensembl	human	known	74_37	frame_shift_del	15.62	27	5	DEL	1.000	-	-	103095550	C	-	103095550	7	5	173	1	0	1	0	1	0	0	0	0	14761	739	26	0	515	0	SLC9A4	2	103095550	Frame_Shift_Del	DEL	C	TCGA-VR-AA4G-01A-11D-A37C-09	29377471	103095550	140103823	21	43355											
KIAA1715	80856	genome.wustl.edu	37	chr2	176804367	176804367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaataggtcttgctaaaggtGgacctggaggatgaagacct	12	9	14	6	0	1	2	0	1	1	1	1	6	1	5	2	5	1	1	2	5	5	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:176804367G>T	ENST00000272748.4	-	10	972	c.725C>A	c.(724-726)cCa>cAa	p.P242Q	KIAA1715_ENST00000535310.1_Missense_Mutation_p.P167Q|KIAA1715_ENST00000544803.1_Missense_Mutation_p.P273Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	242	Pro-rich.				blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TGCTAAAGGTGGACCTGGAGG	0.328																																																	0													66	66	66					2																	176804367		2203	4300	6503	SO:0001583	missense	0			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.725C>A	2.37:g.176804367G>T	ENSP00000272748:p.Pro242Gln		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	pfam_DUF2296	p.P273Q	ENST00000272748.4	37	c.818	CCDS33332.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179571	0.78564	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.83852	0.5344	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;1.0	D;D;D;D	0.76575	0.951;0.988;0.928;0.987	D	0.85930	0.1451	9	0.87932	D	0	-10.7249	19.3572	0.94420	0.0:0.0:1.0:0.0	.	244;273;239;242	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	Q	242;244;119;273;167	.	ENSP00000272748:P242Q	P	-	2	0	KIAA1715	176512613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.383000	0.79741	2.653000	0.90120	0.467000	0.42956	CCA	KIAA1715	-	NULL	ENSG00000144320		0.328	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1715	HGNC	protein_coding	OTTHUMT00000333949.3	-	0	35	0	G	XM_042834		176804367	-1	tier1	-	no_errors	ENST00000544803	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T	T	176804367	G	T	176804367	3	4	173	1	0	0	0	0	1	0	0	0	8281	1348	47	3	577	3	KIAA1715	2	176804367	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	73708817	176804367	66395006	22	43356											
PLEKHA3	65977	genome.wustl.edu	37	chr2	179355543	179355543	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggactaaaaaagaaaaaggTaactataaacttttcccttg	19	10	6	6	0	0	1	0	0	0	1	1	2	1	2	1	2	2	1	1	2	9	7			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:179355543T>C	ENST00000234453.5	+	3	715		c.e3+2		PLEKHA3_ENST00000461474.1_Splice_Site	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							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)			AAGAAAAAGGTAACTATAAAC	0.378																																																	0													43	42	42					2																	179355543		2203	4300	6503	SO:0001630	splice_region_variant	0			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.313+2T>C	2.37:g.179355543T>C			Q4ZG69|Q86TQ1|Q9NXT3	Splice_Site	SNP	-	e3+2	ENST00000234453.5	37	c.313+2	CCDS33336.1	2	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432052	0.83776	.	.	ENSG00000116095	ENST00000234453	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9568	0.79893	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHA3	179063789	1.000000	0.71417	0.986000	0.45419	0.926000	0.56050	7.948000	0.87774	2.158000	0.67659	0.460000	0.39030	.	PLEKHA3	-	-	ENSG00000116095		0.378	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA3	HGNC	protein_coding	OTTHUMT00000335241.2	-	0	32	0	T	NM_019091	Intron	179355543	1	tier1	-	no_errors	ENST00000234453	ensembl	human	known	74_37	splice_site	27.03	27	10	SNP	1.000	C	C	179355543	T	C	179355543	5	2	173	1	0	0	0	0	0	0	1	0	12096	1652	57	4	325	4	PLEKHA3	2	179355543	Splice_Site	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	2551176	179355543	63843830	23	43357											
CWC22	57703	genome.wustl.edu	37	chr2	180843003	180843003	+	Silent	SNP	T	T	A	0	1	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	ttgttgataaggccattaatTgacttcttcagggcctccca	9	14	8	10	0	2	2	1	2	1	0	3	2	3	2	3	2	0	1	3	2	2	7			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:180843003T>A	ENST00000410053.3	-	6	794	c.495A>T	c.(493-495)tcA>tcT	p.S165S	CWC22_ENST00000295749.6_Silent_p.S165S	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	165	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GGCCATTAATTGACTTCTTCA	0.308																																																	0													69	64	65					2																	180843003		1807	4074	5881	SO:0001819	synonymous_variant	0				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.495A>T	2.37:g.180843003T>A			Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.S165	ENST00000410053.3	37	c.495	CCDS46465.1	2																																																																																			CWC22	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000163510		0.308	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	HGNC	protein_coding	OTTHUMT00000334537.1	-	0	124	0	T	NM_020943		180843003	-1	tier1	-	no_errors	ENST00000295749	ensembl	human	known	74_37	silent	17.95	96	21	SNP	1.000	A	A	180843003	T	A	180843003	2	1	173	1	0	0	0	0	0	0	0	1	4077	1799	63	5		5	CWC22	2	180843003	Silent	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	1487460	180843003	62356370	24	43358											
TFPI	7035	genome.wustl.edu	37	chr2	188343494	188343494	+	Intron	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacttggtaaatatgagccGcattcttccaaccatcattt	12	13	6	10	1	2	2	1	1	1	1	3	2	3	2	3	1	2	2	3	1	4	6	rs148657144		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:188343494G>C	ENST00000233156.3	-	6	923				TFPI_ENST00000409676.1_Missense_Mutation_p.A222G|TFPI_ENST00000392365.1_Intron|TFPI_ENST00000339091.4_Missense_Mutation_p.A222G|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)						blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	AATATGAGCCGCATTCTTCCA	0.353																																																	0													157	138	145					2																	188343494		2203	4300	6503	SO:0001627	intron_variant	0				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.628+5356C>G	2.37:g.188343494G>C			O95103|Q53TS4	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.A222G	ENST00000233156.3	37	c.665	CCDS2294.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171665	0.78452	.	.	ENSG00000003436	ENST00000409676;ENST00000339091	T;T	0.67698	-0.28;-0.28	4.72	4.72	0.59763	.	.	.	.	.	T	0.79082	0.4386	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.78028	-0.2364	8	0.33141	T	0.24	.	14.8526	0.70309	0.0:0.0:1.0:0.0	.	222	P10646-2	.	G	222	ENSP00000386344:A222G;ENSP00000342306:A222G	ENSP00000342306:A222G	A	-	2	0	TFPI	188051739	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	3.408000	0.52651	2.138000	0.66242	0.557000	0.71058	GCG	TFPI	-	pirsf_Prot_inhib_I2_TFPI	ENSG00000003436		0.353	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI	HGNC	protein_coding	OTTHUMT00000255881.1		0	54	0	G	NM_006287		188343494	-1			no_errors	ENST00000339091	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	C	C	188343494	G	C	188343494	1	2	173	0	1	0	0	0	0	0	0	0	15855	1087	38	5		5	TFPI	2	188343494	Intron	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	7500491	188343494	54855879	25	43359											
ALS2CR11	151254	genome.wustl.edu	37	chr2	202469371	202469371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatttggcgtctcctgtGttatttccagttcttcacta	7	17	6	11	1	3	0	1	0	2	0	5	0	4	0	3	1	0	2	3	1	3	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:202469371G>T	ENST00000286195.3	-	2	325	c.281C>A	c.(280-282)aCa>aAa	p.T94K	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.T94K|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.T94K|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.T94K	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	94										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CGTCTCCTGTGTTATTTCCAG	0.328																																																	0													149	145	146					2																	202469371		2203	4299	6502	SO:0001583	missense	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.281C>A	2.37:g.202469371G>T	ENSP00000286195:p.Thr94Lys		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_dom	p.T94K	ENST00000286195.3	37	c.281	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379914	0.42207	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74	5.32	-0.73	0.11154	.	1.195360	0.05928	N	0.634721	D	0.91885	0.7431	L	0.51422	1.61	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.11329	0.006;0.004;0.004	T	0.80365	-0.1413	10	0.54805	T	0.06	.	3.1732	0.06560	0.3291:0.0:0.3722:0.2987	.	94;94;94	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	K	94	ENSP00000286195:T94K;ENSP00000400672:T94K;ENSP00000409937:T94K;ENSP00000399016:T94K	ENSP00000286195:T94K	T	-	2	0	ALS2CR11	202177616	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.046000	0.14035	-0.028000	0.13850	-0.733000	0.03571	ACA	ALS2CR11	-	NULL	ENSG00000155754		0.328	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	-	0	72	0	G	NM_152525		202469371	-1	tier1	-	no_errors	ENST00000286195	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.000	T	T	202469371	G	T	202469371	3	4	173	1	0	0	0	0	1	0	0	0	552	1377	48	3	5388	3	ALS2CR11	2	202469371	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	14125877	202469371	40730002	26	43360											
ALS2CR8	79800	genome.wustl.edu	37	chr2	203848307	203848308	+	Frame_Shift_Ins	INS	-	-	A																															ccagcattgtctatggaagcINSaaaaaaaactgtggactata																								rs201520695	byFrequency	TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:203848307_203848308insA	ENST00000402905.3	+	16	2459_2460	c.2138_2139insA	c.(2137-2142)gcaaaafs	p.AK713fs	CARF_ENST00000545262.1_Frame_Shift_Ins_p.AK637fs|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545253.1_Frame_Shift_Ins_p.AK625fs|CARF_ENST00000428585.1_Frame_Shift_Ins_p.AK637fs|CARF_ENST00000320443.8_Frame_Shift_Ins_p.AK713fs|CARF_ENST00000438828.2_Frame_Shift_Ins_p.AK713fs|CARF_ENST00000414439.1_Frame_Shift_Ins_p.AK611fs	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	713					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)										TCTATGGAAGCAAAAAAAACTG	0.327													aAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	4	0.000798722	0	0.0014	5008	,	,		15628	0		0.003	False		,,,				2504	0																0									,	4,3484		0,4,1740					,	3.1	0.9			85	60,7742		0,60,3841	no	frameshift,frameshift	ALS2CR8	NM_024744.14,NM_001104586.1	,	0,64,5581	A1A1,A1R,RR		0.769,0.1147,0.5669	,	,		64,11226				SO:0001589	frameshift_variant	0			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.2146dupA	2.37:g.203848315_203848315dupA	ENSP00000384006:p.Ala713fs		B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Frame_Shift_Ins	INS	NULL	p.T716fs	ENST00000402905.3	37	c.2138_2139	CCDS42801.1	2																																																																																			CARF	-	NULL	ENSG00000138380		0.327	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARF	HGNC	protein_coding	OTTHUMT00000335768.5		0	72	0	-	NM_001104586		203848308	1	tier1		no_errors	ENST00000320443	ensembl	human	known	74_37	frame_shift_ins	13.11	53	8	INS	0.949:0.979	A	A	203848308	-	A	203848307	7	5	173	1	0	1	1	0	0	0	0	0	555	710	25	0	2192	0	ALS2CR8	2	203848307	Frame_Shift_Ins	INS	-	TCGA-VR-AA4G-01A-11D-A37C-09	1378936	203848307	39351066	27	43361											
RPL37A	6168	genome.wustl.edu	37	chr2	217364062	217364062	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggggcctccctccggaaaAtggtgaagaaaattgaaatc	14	8	11	8	1	0	3	0	2	0	1	3	4	2	4	3	4	0	0	3	4	6	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:217364062A>T	ENST00000491306.1	+	2	759	c.73A>T	c.(73-75)Atg>Ttg	p.M25L	AC098820.3_ENST00000438978.1_RNA|RPL37A_ENST00000456586.1_Start_Codon_SNP_p.M1L|RPL37A_ENST00000427280.2_Start_Codon_SNP_p.M1L|RPL37A_ENST00000598925.1_Start_Codon_SNP_p.M1L|RPL37A_ENST00000446558.1_Missense_Mutation_p.M25L|RPL37A_ENST00000600880.1_Missense_Mutation_p.M25L|RPL37A_ENST00000441179.2_Start_Codon_SNP_p.M1L|AC098820.3_ENST00000453157.1_RNA	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN	ribosomal protein L37a	25					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)			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)		CCTCCGGAAAATGGTGAAGAA	0.502																																																	0													53	57	55					2																	217364062		2203	4300	6503	SO:0001583	missense	0				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.73A>T	2.37:g.217364062A>T	ENSP00000418082:p.Met25Leu		P12751|Q6FGF5	Missense_Mutation	SNP	pfam_Ribosomal_L37ae,superfamily_Ribosomal_zn-bd,tigrfam_Ribosomal_L37ae	p.M25L	ENST00000491306.1	37	c.73	CCDS2404.1	2	.	.	.	.	.	.	.	.	.	.	A	19.70	3.876026	0.72180	.	.	ENSG00000197756	ENST00000491306;ENST00000446558;ENST00000456586	.	.	.	5.1	5.1	0.69264	Ribosomal protein L37ae/L37e, N-terminal (1);Ribosomal protein, zinc-binding domain (1);	0.000000	0.64402	U	0.000001	T	0.53997	0.1831	.	.	.	0.80722	D	1	B;B	0.24823	0.0;0.112	B;B	0.23419	0.001;0.046	T	0.52852	-0.8520	8	0.42905	T	0.14	.	14.0687	0.64847	1.0:0.0:0.0:0.0	.	25;25	Q6P4E4;P61513	.;RL37A_HUMAN	L	25;25;1	.	ENSP00000410080:M25L	M	+	1	0	RPL37A	217072307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.939000	0.92951	1.920000	0.55613	0.533000	0.62120	ATG	RPL37A	-	pfam_Ribosomal_L37ae,superfamily_Ribosomal_zn-bd,tigrfam_Ribosomal_L37ae	ENSG00000197756		0.502	RPL37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL37A	HGNC	protein_coding	OTTHUMT00000256665.2	-	0	30	0	A	NM_000998		217364062	1	tier1	-	no_errors	ENST00000491306	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	T	T	217364062	A	T	217364062	3	4	173	1	0	0	0	0	1	0	0	0	13635	101	4	5	79	5	RPL37A	2	217364062	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	13515755	217364062	25835311	28	43362											
ZNF142	7701	genome.wustl.edu	37	chr2	219513948	219513948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgcattcctctccaccGcactgtagtggcacagtggg	7	10	12	12	1	1	1	0	1	1	0	3	1	2	1	3	2	1	4	3	2	1	2	rs542070434	byFrequency	TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:219513948G>A	ENST00000449707.1	-	6	1104	c.683C>T	c.(682-684)gCg>gTg	p.A228V	ZNF142_ENST00000411696.2_Missense_Mutation_p.A228V	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	228					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)		CCTCTCCACCGCACTGTAGTG	0.542											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0	0	5008	,	,		19594	0		0	False		,,,				2504	0.002				Colon(170;867 1942 8995 15834 18053)												0													61	64	63					2																	219513948		2072	4212	6284	SO:0001583	missense	0			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.683C>T	2.37:g.219513948G>A	ENSP00000408643:p.Ala228Val	2259	Q92510	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A228V	ENST00000449707.1	37	c.683	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496422	0.85069	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.14766	2.48;2.48	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);	0.101973	0.64402	D	0.000002	T	0.22205	0.0535	M	0.71581	2.175	0.47511	D	0.999441	D;P	0.53745	0.962;0.945	B;B	0.43386	0.278;0.418	T	0.01894	-1.1252	10	0.34782	T	0.22	-0.0671	19.3296	0.94280	0.0:0.0:1.0:0.0	.	228;65	P52746;A8MWU9	ZN142_HUMAN;.	V	228	ENSP00000408643:A228V;ENSP00000398798:A228V	ENSP00000398798:A228V	A	-	2	0	ZNF142	219222192	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	9.418000	0.97395	2.873000	0.98535	0.563000	0.77884	GCG	ZNF142	-	smart_Znf_C2H2-like	ENSG00000115568		0.542	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1		0	21	0	G	NM_005081		219513948	-1			no_errors	ENST00000411696	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.998	A	A	219513948	G	A	219513948	3	1	173	1	0	0	0	0	1	0	0	0	17779	1087	38	1	4400	1	ZNF142	2	219513948	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	2149886	219513948	23685425	29	43363											
PSMD1	5707	genome.wustl.edu	37	chr2	231927025	231927025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagaaatttccgagtccGtagacaaaatgtaagaaatt	16	9	10	6	2	0	3	0	0	0	3	2	4	2	3	2	1	0	3	2	1	6	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:231927025G>T	ENST00000308696.6	+	3	286	c.124G>T	c.(124-126)Gta>Tta	p.V42L	PSMD1_ENST00000409643.1_Missense_Mutation_p.V42L|PSMD1_ENST00000373635.4_Missense_Mutation_p.V42L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	42					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.V42fs*1(1)		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)	TTCCGAGTCCGTAGACAAAAT	0.303																																																	1	Deletion - Frameshift(1)	breast(1)											42	44	43					2																	231927025		2202	4296	6498	SO:0001583	missense	0			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.124G>T	2.37:g.231927025G>T	ENSP00000309474:p.Val42Leu		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.V42L	ENST00000308696.6	37	c.124	CCDS2482.1	2	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261506	0.59431	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.27890	1.64;1.64;1.64	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	L	0.35542	1.07	0.80722	D	1	B;B	0.17465	0.002;0.022	B;B	0.15484	0.007;0.013	T	0.07481	-1.0770	10	0.15952	T	0.53	-0.065	20.422	0.99049	0.0:0.0:1.0:0.0	.	42;42	Q99460;Q99460-2	PSMD1_HUMAN;.	L	42	ENSP00000309474:V42L;ENSP00000362738:V42L;ENSP00000386932:V42L	ENSP00000309474:V42L	V	+	1	0	PSMD1	231635269	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.750000	0.98875	2.832000	0.97577	0.655000	0.94253	GTA	PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	ENSG00000173692		0.303	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2		0	39	0	G			231927025	1			no_errors	ENST00000308696	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	231927025	G	T	231927025	3	4	173	1	0	0	0	0	1	0	0	0	12734	1145	40	2	134	2	PSMD1	2	231927025	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	12413077	231927025	11272348	30	43364											
ARMC9	80210	genome.wustl.edu	37	chr2	232081450	232081450	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cagagtttcttcctttctatGcccttccttttgttcccaac	5	18	4	14	0	2	1	0	0	2	1	5	1	5	1	4	0	2	2	4	0	2	8			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:232081450G>T	ENST00000349938.4	+	5	642	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	150						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)		TCCTTTCTATGCCCTTCCTTT	0.463																																																	0													216	194	201					2																	232081450		2203	4300	6503	SO:0001583	missense	0			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.448G>T	2.37:g.232081450G>T	ENSP00000258417:p.Ala150Ser		Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.A150S	ENST00000349938.4	37	c.448	CCDS2484.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.458813	0.96240	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.19669	2.13;2.13	5.5	5.5	0.81552	.	0.110233	0.64402	D	0.000009	T	0.51941	0.1704	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55296	-0.8163	10	0.66056	D	0.02	-21.2915	19.3894	0.94574	0.0:0.0:1.0:0.0	.	150	Q7Z3E5	ARMC9_HUMAN	S	150	ENSP00000258417:A150S;ENSP00000387391:A150S	ENSP00000258417:A150S	A	+	1	0	ARMC9	231789694	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	9.504000	0.97986	2.573000	0.86826	0.655000	0.94253	GCC	ARMC9	-	NULL	ENSG00000135931		0.463	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3		0	63	0	G	NM_025139		232081450	1			no_errors	ENST00000349938	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	232081450	G	T	232081450	3	4	173	1	0	0	0	0	1	0	0	0	959	1319	46	3	462	3	ARMC9	2	232081450	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	154425	232081450	11117923	31	43365											
DIS3L2	129563	genome.wustl.edu	37	chr2	233198624	233198624	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgcgctcaatgtgcccctGtacacacacttcacctcgcc	8	9	6	18	3	2	0	2	0	0	0	3	0	2	0	4	0	3	2	4	0	3	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:233198624G>T	ENST00000409307.1	+	16	2085	c.2085G>T	c.(2083-2085)ctG>ctT	p.L695L	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Silent_p.L695L					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ATGTGCCCCTGTACACACACT	0.662																																																	0													60	67	65					2																	233198624		2175	4269	6444	SO:0001819	synonymous_variant	0			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2085G>T	2.37:g.233198624G>T				Silent	SNP	NULL	p.L695	ENST00000409307.1	37	c.2085	CCDS42834.1	2																																																																																			DIS3L2	-	NULL	ENSG00000144535		0.662	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1	-	0	74	0	G	NM_152383		233198624	1	tier1	-	no_errors	ENST00000325385	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	T	T	233198624	G	T	233198624	2	4	173	1	0	0	0	0	0	0	0	1	4551	1364	48	3		3	DIS3L2	2	233198624	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	1117174	233198624	10000749	32	43366											
COL6A3	1293	genome.wustl.edu	37	chr2	238259828	238259828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggagcaccagcggcacctCcgcttccctggagcaggagg	8	4	14	15	2	0	0	0	0	0	0	2	3	2	3	4	5	3	4	4	5	0	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr2:238259828C>T	ENST00000295550.4	-	27	7213	c.6761G>A	c.(6760-6762)gGa>gAa	p.G2254E	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1647E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2048E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2048E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2054E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2053E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2254	Collagen-like 4.|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)	p.G2254V(1)		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)		AGCGGCACCTCCGCTTCCCTG	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											88	75	79					2																	238259828		2203	4300	6503	SO:0001583	missense	0			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.6761G>A	2.37:g.238259828C>T	ENSP00000295550:p.Gly2254Glu		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G2254E	ENST00000295550.4	37	c.6761	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	6.387	0.439595	0.12104	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.93547	-3.19;-3.19;-3.24;-3.19;-3.24;-3.19	5.42	3.5	0.40072	.	0.246772	0.28322	N	0.015762	D	0.91932	0.7445	L	0.52364	1.645	0.80722	D	1	P;P;D;P	0.55800	0.954;0.883;0.973;0.954	P;B;P;P	0.55923	0.726;0.327;0.787;0.617	D	0.89295	0.3622	10	0.02654	T	1	.	10.565	0.45167	0.1495:0.7067:0.1438:0.0	.	1647;1647;2048;2254	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	E	2254;2053;2048;1647;2048;2054	ENSP00000295550:G2254E;ENSP00000315609:G2053E;ENSP00000315873:G2048E;ENSP00000418285:G1647E;ENSP00000386844:G2048E;ENSP00000295546:G2054E	ENSP00000295550:G2254E	G	-	2	0	COL6A3	237924567	0.975000	0.34042	0.554000	0.28268	0.034000	0.12701	3.315000	0.51951	1.277000	0.44412	-0.175000	0.13238	GGA	COL6A3	-	NULL	ENSG00000163359		0.567	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	47	0	C	NM_004369		238259828	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	40.48	25	17	SNP	0.935	T	T	238259828	C	T	238259828	3	4	173	1	0	0	0	0	1	0	0	0	3708	855	30	3	2844	3	COL6A3	2	238259828	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	5061204	238259828	4939545	33	43367											
SUMF1	285362	genome.wustl.edu	37	chr3	4458863	4458863	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttggtcaccggaaactcGccctgccaaatgttggcata	9	10	11	11	2	1	0	1	0	0	0	2	1	1	1	3	3	2	3	3	3	3	3	rs373665011		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr3:4458863G>T	ENST00000272902.5	-	6	824	c.789C>A	c.(787-789)ggC>ggA	p.G263G	SUMF1_ENST00000534863.1_Silent_p.G263G|SUMF1_ENST00000405420.2_Silent_p.G263G|SUMF1_ENST00000383843.5_Silent_p.G238G|SUMF1_ENST00000458465.2_Intron	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	263					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CCGGAAACTCGCCCTGCCAAA	0.552																																																	0													192	170	178					3																	4458863		2203	4300	6503	SO:0001819	synonymous_variant	0			BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.789C>A	3.37:g.4458863G>T			B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Silent	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.G263	ENST00000272902.5	37	c.789	CCDS2564.1	3																																																																																			SUMF1	-	pfam_FGE_dom,superfamily_C-type_lectin_fold	ENSG00000144455		0.552	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF1	HGNC	protein_coding	OTTHUMT00000206591.2	-	0	49	0	G	NM_182760		4458863	-1	tier1	-	no_errors	ENST00000448413	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.994	T	T	4458863	G	T	4458863	2	4	173	1	0	0	0	0	0	0	0	1	15432	1074	38	2		2	SUMF1	3	4458863	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		4458863	193563567	34	43368											
TGFBR2	7048	genome.wustl.edu	37	chr3	30691784	30691784	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagaatgacgagaacataAcactagagacagtttgccat	18	7	9	7	1	0	4	0	1	0	3	0	7	0	4	1	0	3	1	1	0	5	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr3:30691784A>G	ENST00000295754.5	+	3	668	c.286A>G	c.(286-288)Aca>Gca	p.T96A	TGFBR2_ENST00000359013.4_Missense_Mutation_p.T121A	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	96					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|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 II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CGAGAACATAACACTAGAGAC	0.428																																																	0													106	103	104					3																	30691784		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.286A>G	3.37:g.30691784A>G	ENSP00000295754:p.Thr96Ala		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.T121A	ENST00000295754.5	37	c.361	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548310	0.65311	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.83250	-1.7;-1.7	5.82	5.82	0.92795	Transforming growth factor beta receptor 2 ectodomain (1);	0.044949	0.85682	D	0.000000	D	0.85885	0.5801	M	0.66939	2.045	0.80722	D	1	B;B	0.23540	0.087;0.087	B;B	0.41723	0.365;0.332	T	0.81111	-0.1081	10	0.18276	T	0.48	.	16.1864	0.81955	1.0:0.0:0.0:0.0	.	96;121	P37173;D2JYI1	TGFR2_HUMAN;.	A	96;121	ENSP00000295754:T96A;ENSP00000351905:T121A	ENSP00000295754:T96A	T	+	1	0	TGFBR2	30666788	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	5.800000	0.69108	2.225000	0.72522	0.533000	0.62120	ACA	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto	ENSG00000163513		0.428	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0	41	0	A			30691784	1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	41.67	14	10	SNP	1.000	G	G	30691784	A	G	30691784	3	3	173	1	0	0	0	0	1	0	0	0	15869	43	2	4	375	4	TGFBR2	3	30691784	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	26232921	30691784	167330646	35	43369											
SCN10A	6336	genome.wustl.edu	37	chr3	38738994	38738994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtttcagatttgtctGggagtacacaattttcattt	11	16	8	6	0	3	1	2	0	1	1	3	2	3	2	0	1	2	3	0	1	3	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr3:38738994G>T	ENST00000449082.2	-	27	5716	c.5717C>A	c.(5716-5718)cCa>cAa	p.P1906Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1906					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)	AGATTTGTCTGGGAGTACACA	0.478																																																	0													177	162	167					3																	38738994		2203	4300	6503	SO:0001583	missense	0			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.5717C>A	3.37:g.38738994G>T	ENSP00000390600:p.Pro1906Gln		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.P1906Q	ENST00000449082.2	37	c.5717	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430211	0.25726	.	.	ENSG00000185313	ENST00000449082	D	0.95554	-3.74	5.38	5.38	0.77491	.	0.489960	0.17391	U	0.175901	D	0.95010	0.8385	N	0.19112	0.55	0.29333	N	0.866525	D	0.76494	0.999	D	0.68039	0.955	D	0.90941	0.4797	10	0.46703	T	0.11	.	14.5881	0.68342	0.0717:0.0:0.9283:0.0	.	1906	Q9Y5Y9	SCNAA_HUMAN	Q	1906	ENSP00000390600:P1906Q	ENSP00000390600:P1906Q	P	-	2	0	SCN10A	38713998	0.001000	0.12720	1.000000	0.80357	0.120000	0.20174	0.721000	0.25911	2.793000	0.96121	0.655000	0.94253	CCA	SCN10A	-	NULL	ENSG00000185313		0.478	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	-	0	53	0	G	NM_006514		38738994	-1	tier1	-	no_errors	ENST00000449082	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.898	T	T	38738994	G	T	38738994	3	4	173	1	0	0	0	0	1	0	0	0	13957	1348	47	3	157	3	SCN10A	3	38738994	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	8047210	38738994	159283436	36	43370											
CTNNB1	1499	genome.wustl.edu	37	chr3	41278166	41278166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagttgagctgaccagctCtctcttcagaacagagccaa	11	10	8	12	0	4	4	2	2	2	2	5	4	4	4	2	0	4	3	2	0	2	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr3:41278166C>T	ENST00000349496.5	+	13	2322	c.2042C>T	c.(2041-2043)tCt>tTt	p.S681F	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S681F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S681F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S674F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S681F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	681					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)	p.E632_S681>SV(1)	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)		CTGACCAGCTCTCTCTTCAGA	0.458		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"	1	Complex - deletion inframe(1)	kidney(1)											133	134	134					3																	41278166		2203	4300	6503	SO:0001583	missense	0	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.2042C>T	3.37:g.41278166C>T	ENSP00000344456:p.Ser681Phe		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.S681F	ENST00000349496.5	37	c.2042	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.370655	0.95900	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.80183	2.485	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.56434	0.792;0.798	T	0.75473	-0.3305	10	0.87932	D	0	-0.5496	19.8246	0.96612	0.0:1.0:0.0:0.0	.	609;681	B4DSW9;P35222	.;CTNB1_HUMAN	F	681;681;681;674;681	ENSP00000385604:S681F;ENSP00000379486:S681F;ENSP00000344456:S681F;ENSP00000411226:S674F;ENSP00000379488:S681F	ENSP00000344456:S681F	S	+	2	0	CTNNB1	41253170	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.676000	0.91093	0.563000	0.77884	TCT	CTNNB1	-	NULL	ENSG00000168036		0.458	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	-	0	38	0	C	NM_001098210		41278166	1	tier1	-	no_errors	ENST00000349496	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	T	T	41278166	C	T	41278166	3	4	173	1	0	0	0	0	1	0	0	0	4025	913	32	3	2088	3	CTNNB1	3	41278166	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	2539172	41278166	156744264	37	43371											
EPHA6	285220	genome.wustl.edu	37	chr3	97356914	97356914	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagatgatccagaagctgcTtatacaacaactgtaagttt	15	11	8	7	0	0	3	0	1	0	2	1	4	1	3	1	0	5	4	1	0	7	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr3:97356914T>G	ENST00000514100.1	+	11	1190	c.948T>G	c.(946-948)gcT>gcG	p.A316A	EPHA6_ENST00000389672.5_Silent_p.A924A|EPHA6_ENST00000502694.1_Silent_p.A316A	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	830						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						CAGAAGCTGCTTATACAACAA	0.368																																																	0													74	71	72					3																	97356914		1875	4116	5991	SO:0001819	synonymous_variant	0			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.948T>G	3.37:g.97356914T>G			D6RAL5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A924	ENST00000514100.1	37	c.2772		3																																																																																			EPHA6	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000080224		0.368	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000359997.1	-	0	45	0	T	NM_001080448		97356914	1	tier1	-	no_errors	ENST00000389672	ensembl	human	known	74_37	silent	30.77	27	12	SNP	0.994	G	G	97356914	T	G	97356914	2	3	173	1	0	0	0	0	0	0	0	1	5187	1596	56	4		4	EPHA6	3	97356914	Silent	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	56078748	97356914	100665516	38	43372											
GPR156	165829	genome.wustl.edu	37	chr3	119886565	119886565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgagctccttggagagggGcatcttttgggggctgaagg	6	9	18	8	1	1	2	0	1	1	1	2	4	2	2	2	6	1	3	2	6	1	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr3:119886565G>A	ENST00000464295.1	-	10	2204	c.1759C>T	c.(1759-1761)Ccc>Tcc	p.P587S	GPR156_ENST00000461057.1_Missense_Mutation_p.P583S|GPR156_ENST00000315843.3_Missense_Mutation_p.P587S			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	587						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TTGGAGAGGGGCATCTTTTGG	0.607																																																	0													32	35	34					3																	119886565		2202	4297	6499	SO:0001583	missense	0			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1759C>T	3.37:g.119886565G>A	ENSP00000417261:p.Pro587Ser		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.P587S	ENST00000464295.1	37	c.1759	CCDS2997.1	3	.	.	.	.	.	.	.	.	.	.	G	8.994	0.978365	0.18812	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.22336	1.96;1.96;1.96	4.98	1.89	0.25635	.	0.674704	0.14342	N	0.325679	T	0.10766	0.0263	N	0.19112	0.55	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.08055	0.003;0.003	T	0.30909	-0.9962	9	.	.	.	-7.8141	5.0034	0.14275	0.2641:0.1716:0.5643:0.0	.	583;587	E9PFZ4;Q8NFN8	.;GP156_HUMAN	S	587;587;583	ENSP00000417261:P587S;ENSP00000324553:P587S;ENSP00000418758:P583S	.	P	-	1	0	GPR156	121369255	0.375000	0.25089	0.260000	0.24451	0.965000	0.64279	0.710000	0.25748	0.664000	0.31047	0.563000	0.77884	CCC	GPR156	-	NULL	ENSG00000175697		0.607	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	-	0	78	0	G	NM_153002		119886565	-1	tier1	-	no_errors	ENST00000315843	ensembl	human	known	74_37	missense	5.26	90	5	SNP	0.000	A	A	119886565	G	A	119886565	3	1	173	1	0	0	0	0	1	0	0	0	6687	1203	42	3	689	3	GPR156	3	119886565	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	22529651	119886565	78135865	39	43373											
TRIM42	287015	genome.wustl.edu	37	chr3	140397293	140397293	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttgggccaatgatccCaactgtaagtgctgctgcac	8	11	10	12	0	1	1	0	1	1	0	2	1	2	1	2	1	5	5	2	1	3	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr3:140397293C>T	ENST00000286349.3	+	1	413	c.222C>T	c.(220-222)ccC>ccT	p.P74P		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	74	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						CCAATGATCCCAACTGTAAGT	0.552																																																	0													109	89	96					3																	140397293		2203	4300	6503	SO:0001819	synonymous_variant	0			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.222C>T	3.37:g.140397293C>T			A1L4B4|Q8N832|Q8NDL3	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.P74	ENST00000286349.3	37	c.222	CCDS3113.1	3																																																																																			TRIM42	-	NULL	ENSG00000155890		0.552	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	-	0	32	0	C	NM_152616		140397293	1	tier1	-	no_errors	ENST00000286349	ensembl	human	known	74_37	silent	16.28	36	7	SNP	1.000	T	T	140397293	C	T	140397293	2	4	173	1	0	0	0	0	0	0	0	1	16565	581	21	3		3	TRIM42	3	140397293	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	20510728	140397293	57625137	40	43374											
FAM194A	131831	genome.wustl.edu	37	chr3	150421519	150421519	+	Missense_Mutation	SNP	A	A	T	1	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	cccccaccaactcctcctccAccacctcctcctcctcctcc	5	8	0	28	0	0	0	0	0	0	0	8	0	8	0	13	0	1	0	13	0	1	0	rs573303855	byFrequency	TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr3:150421519A>T	ENST00000295910.6	-	1	219	c.167T>A	c.(166-168)gTg>gAg	p.V56E	RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000475393.1_RNA	NM_152394.3	NP_689607.2												p.V56E(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						ctcctcctccaccacctcctc	0.607													A|||	41	0.0081869	0.0091	0.0144	5008	,	,		1681	0.0069		0.0089	False		,,,				2504	0.0031																1	Substitution - Missense(1)	endometrium(1)											198	156	171					3																	150421519		2203	4299	6502	SO:0001583	missense	0																														ENST00000295910.6:c.167T>A	3.37:g.150421519A>T	ENSP00000295910:p.Val56Glu			Missense_Mutation	SNP	NULL	p.V56E	ENST00000295910.6	37	c.167	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	A	4.695	0.129296	0.08981	.	.	ENSG00000163645	ENST00000295910	T	0.13538	2.58	3.11	-4.8	0.03190	.	1.710190	0.03876	N	0.276462	T	0.04318	0.0119	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.29181	-1.0020	10	0.02654	T	1	-0.1027	0.7864	0.01049	0.1614:0.2002:0.316:0.3224	.	56	Q7L0X2	F194A_HUMAN	E	56	ENSP00000295910:V56E	ENSP00000295910:V56E	V	-	2	0	FAM194A	151904209	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.158000	0.03153	-0.978000	0.03533	-0.472000	0.04984	GTG	FAM194A	-	NULL	ENSG00000163645		0.607	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	-	0	26	0	A			150421519	-1	tier1	-	no_errors	ENST00000295910	ensembl	human	known	74_37	missense	11.63	37	5	SNP	0.000	T	T	150421519	A	T	150421519	3	4	173	1	0	0	0	0	1	0	0	0	5545	159	6	5	1880	5	FAM194A	3	150421519	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	10024226	150421519	47600911	41	43375											
FXR1	8087	genome.wustl.edu	37	chr3	180652996	180652996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctgatataaaaaaagaaAttagtgaaggagatgaagta	21	8	9	3	0	0	5	0	3	0	2	0	6	0	5	1	1	0	1	1	1	10	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr3:180652996A>G	ENST00000357559.4	+	3	559	c.175A>G	c.(175-177)Att>Gtt	p.I59V	FXR1_ENST00000445140.2_Missense_Mutation_p.I59V|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000480918.1_Missense_Mutation_p.I46V|FXR1_ENST00000491062.1_Intron	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	59					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)			AAAAAAAGAAATTAGTGAAGG	0.308																																																	0													61	63	62					3																	180652996		2203	4300	6503	SO:0001583	missense	0			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.175A>G	3.37:g.180652996A>G	ENSP00000350170:p.Ile59Val		A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1	p.I59V	ENST00000357559.4	37	c.175	CCDS3238.1	3	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432835	0.62844	.	.	ENSG00000114416	ENST00000357559;ENST00000445140;ENST00000480918;ENST00000484042	T;T;T;T	0.47869	1.83;1.15;1.66;0.83	5.54	5.54	0.83059	Agenet (1);	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.73598	2.24	0.80722	D	1	B;B;B	0.26708	0.124;0.08;0.157	B;B;P	0.48598	0.269;0.257;0.583	T	0.68845	-0.5301	10	0.72032	D	0.01	-1.9787	15.6264	0.76863	1.0:0.0:0.0:0.0	.	46;59;59	B4DXZ6;P51114-2;P51114	.;.;FXR1_HUMAN	V	59;59;46;63	ENSP00000350170:I59V;ENSP00000388828:I59V;ENSP00000418097:I46V;ENSP00000417513:I63V	ENSP00000350170:I59V	I	+	1	0	FXR1	182135690	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.123000	0.89586	2.230000	0.72887	0.455000	0.32223	ATT	FXR1	-	pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold	ENSG00000114416		0.308	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	-	0	94	0	A			180652996	1	tier1	-	no_errors	ENST00000357559	ensembl	human	known	74_37	missense	41.03	69	48	SNP	1.000	G	G	180652996	A	G	180652996	3	3	173	1	0	0	0	0	1	0	0	0	6139	101	4	4	185	4	FXR1	3	180652996	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	30231477	180652996	17369434	42	43376											
FETUB	26998	genome.wustl.edu	37	chr3	186364101	186364101	+	Missense_Mutation	SNP	A	A	G	1	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	atcaccatgtactaaatcccAggccagcagctgttcacttc	11	10	6	14	0	2	0	2	0	0	0	4	0	3	0	3	1	3	4	3	1	3	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr3:186364101A>G	ENST00000265029.3	+	5	760	c.659A>G	c.(658-660)cAg>cGg	p.Q220R	FETUB_ENST00000539949.1_Missense_Mutation_p.Q72R|FETUB_ENST00000382136.3_Missense_Mutation_p.Q183R|FETUB_ENST00000450521.1_Missense_Mutation_p.Q220R|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.Q155R	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	220	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		ACTAAATCCCAGGCCAGCAGC	0.408																																																	0													149	155	153					3																	186364101		2203	4300	6503	SO:0001583	missense	0			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.659A>G	3.37:g.186364101A>G	ENSP00000265029:p.Gln220Arg		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.Q220R	ENST00000265029.3	37	c.659	CCDS3279.1	3	.	.	.	.	.	.	.	.	.	.	A	11.12	1.546285	0.27652	.	.	ENSG00000090512	ENST00000450521;ENST00000431018;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62	4.97	0.855	0.19013	Proteinase inhibitor I25, cystatin (2);	0.772518	0.11763	N	0.531871	T	0.26846	0.0657	M	0.80847	2.515	0.09310	N	1	D;D;P	0.57899	0.981;0.967;0.837	P;P;P	0.55303	0.773;0.704;0.498	T	0.09997	-1.0649	10	0.72032	D	0.01	-0.312	4.8262	0.13417	0.4931:0.1731:0.0:0.3337	.	183;155;220	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	R	220;72;72;220;155;183	ENSP00000404288:Q220R;ENSP00000396581:Q72R;ENSP00000443704:Q72R;ENSP00000265029:Q220R;ENSP00000371569:Q155R;ENSP00000371571:Q183R	ENSP00000265029:Q220R	Q	+	2	0	FETUB	187846795	0.337000	0.24766	0.009000	0.14445	0.108000	0.19459	1.765000	0.38481	0.419000	0.25927	0.533000	0.62120	CAG	FETUB	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000090512		0.408	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FETUB	HGNC	protein_coding	OTTHUMT00000344679.1		0	55	0	A	NM_014375		186364101	1			no_errors	ENST00000265029	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.005	G	G	186364101	A	G	186364101	3	3	173	1	0	0	0	0	1	0	0	0	5843	188	7	4	677	4	FETUB	3	186364101	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	5711105	186364101	11658329	43	43377											
PPP1R2	5504	genome.wustl.edu	37	chr3	195251628	195251628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtacttacttcctggctaaGatgtctggcgccatggcttc	7	13	10	11	1	1	1	0	0	1	1	3	1	2	1	2	3	2	3	2	3	3	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr3:195251628G>C	ENST00000328432.3	-	3	657	c.297C>G	c.(295-297)atC>atG	p.I99M	RNU6ATAC24P_ENST00000516811.1_RNA	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	99					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)		TCCTGGCTAAGATGTCTGGCG	0.468																																																	0													99	85	90					3																	195251628		2203	4300	6503	SO:0001583	missense	0			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.297C>G	3.37:g.195251628G>C	ENSP00000328178:p.Ile99Met			Missense_Mutation	SNP	pfam_PPI-2	p.I99M	ENST00000328432.3	37	c.297	CCDS3309.1	3	.	.	.	.	.	.	.	.	.	.	G	6.229	0.410376	0.11812	.	.	ENSG00000184203	ENST00000328432	.	.	.	5.27	-0.36	0.12568	.	0.486738	0.21929	N	0.067053	T	0.38532	0.1044	M	0.69823	2.125	0.19575	N	0.999961	B	0.15719	0.014	B	0.12837	0.008	T	0.31447	-0.9943	9	0.46703	T	0.11	.	2.9847	0.05964	0.1542:0.3595:0.3451:0.1412	.	99	P41236	IPP2_HUMAN	M	99	.	ENSP00000328178:I99M	I	-	3	3	PPP1R2	196732917	0.864000	0.29904	0.222000	0.23844	0.314000	0.28054	0.457000	0.21875	-0.001000	0.14495	0.585000	0.79938	ATC	PPP1R2	-	pfam_PPI-2	ENSG00000184203		0.468	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R2	HGNC	protein_coding	OTTHUMT00000342133.1	-	0	52	0	G	NM_006241		195251628	-1	tier1	-	no_errors	ENST00000328432	ensembl	human	known	74_37	missense	48.48	34	32	SNP	0.132	C	C	195251628	G	C	195251628	3	2	173	1	0	0	0	0	1	0	0	0	12412	932	33	5	336	5	PPP1R2	3	195251628	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	8887527	195251628	2770802	44	43378											
EVC	2121	genome.wustl.edu	37	chr4	5800490	5800490	+	Missense_Mutation	SNP	A	A	T	1	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	cacggaatgcagccaccaagAgccgggccaaggacagggat	13	2	14	12	2	0	1	0	0	0	1	0	4	0	4	4	4	3	1	4	4	3	0			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr4:5800490A>T	ENST00000264956.6	+	15	2459	c.2275A>T	c.(2275-2277)Agc>Tgc	p.S759C	EVC_ENST00000382674.2_Missense_Mutation_p.S759C|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	759					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)				AGCCACCAAGAGCCGGGCCAA	0.632																																																	0													24	20	21					4																	5800490		2183	4277	6460	SO:0001583	missense	0			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.2275A>T	4.37:g.5800490A>T	ENSP00000264956:p.Ser759Cys			Missense_Mutation	SNP	NULL	p.S759C	ENST00000264956.6	37	c.2275	CCDS3383.1	4	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751280	0.49257	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.56611	0.45;0.45	5.08	2.7	0.31948	.	0.408787	0.27595	N	0.018668	T	0.59676	0.2211	L	0.59436	1.845	0.30742	N	0.746073	D	0.65815	0.995	P	0.60415	0.874	T	0.60969	-0.7157	10	0.66056	D	0.02	.	6.8212	0.23859	0.7995:0.0:0.2005:0.0	.	759	P57679	EVC_HUMAN	C	759	ENSP00000264956:S759C;ENSP00000372120:S759C	ENSP00000264956:S759C	S	+	1	0	EVC	5851391	0.279000	0.24239	0.861000	0.33841	0.486000	0.33341	0.554000	0.23407	0.791000	0.33826	0.459000	0.35465	AGC	EVC	-	NULL	ENSG00000072840		0.632	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1	-	0	63	0	A			5800490	1	tier1	-	no_errors	ENST00000264956	ensembl	human	known	74_37	missense	38.46	24	15	SNP	0.504	T	T	5800490	A	T	5800490	3	4	173	1	0	0	0	0	1	0	0	0	5301	304	11	5	2333	5	EVC	4	5800490	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09		5800490	185353786	45	43379											
GPR125	166647	genome.wustl.edu	37	chr4	22390753	22390753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtaattcttaatgttcgctGctgcagttatgccgcaaaca	10	13	8	10	3	1	0	0	0	1	0	2	0	1	0	1	0	4	7	1	0	4	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr4:22390753G>T	ENST00000334304.5	-	18	2950	c.2681C>A	c.(2680-2682)gCa>gAa	p.A894E	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	894					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AATGTTCGCTGCTGCAGTTAT	0.408																																																	0													218	223	221					4																	22390753		2203	4300	6503	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2681C>A	4.37:g.22390753G>T	ENSP00000334952:p.Ala894Glu		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.A894E	ENST00000334304.5	37	c.2681	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798676	0.90538	.	.	ENSG00000152990	ENST00000334304	T	0.47177	0.85	5.85	5.85	0.93711	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	T	0.77381	-0.2609	10	0.87932	D	0	-24.2833	20.1496	0.98084	0.0:0.0:1.0:0.0	.	751;894	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	E	894	ENSP00000334952:A894E	ENSP00000334952:A894E	A	-	2	0	GPR125	21999851	1.000000	0.71417	0.951000	0.38953	0.517000	0.34286	9.471000	0.97696	2.755000	0.94549	0.655000	0.94253	GCA	GPR125	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000152990		0.408	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	-	0	30	0	G			22390753	-1	tier1	-	no_errors	ENST00000334304	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T	T	22390753	G	T	22390753	3	4	173	1	0	0	0	0	1	0	0	0	6665	1319	46	3	1292	3	GPR125	4	22390753	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	16590263	22390753	168763523	46	43380											
PDGFRA	5156	genome.wustl.edu	37	chr4	55146650	55146650	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagaagaaatctatgttagGtaaaagtgtctatactcact	16	13	7	5	0	3	2	1	0	2	2	3	2	3	2	0	1	1	2	0	1	9	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr4:55146650G>A	ENST00000257290.5	+	16	2654		c.e16+1		FIP1L1_ENST00000507166.1_Splice_Site	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide						adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TCTATGTTAGGTAAAAGTGTC	0.388			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	0													48	45	46					4																	55146650		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2323+1G>A	4.37:g.55146650G>A			B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Splice_Site	SNP	-	e15+1	ENST00000257290.5	37	c.2323+1	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628761	0.67015	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	.	.	.	5.79	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0757	0.80967	0.0:0.0:0.865:0.135	.	.	.	.	.	-1	.	.	.	+	.	.	FIP1L1;PDGFRA	54841407	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	5.010000	0.64004	1.399000	0.46721	0.561000	0.74099	.	PDGFRA	-	-	ENSG00000134853		0.388	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	-	0	63	0	G	NM_006206	Intron	55146650	1	tier1	-	no_errors	ENST00000257290	ensembl	human	known	74_37	splice_site	11.76	30	4	SNP	1.000	A	A	55146650	G	A	55146650	5	1	173	1	0	0	0	0	0	0	1	0	11700	1275	44	3	2382	3	PDGFRA	4	55146650	Splice_Site	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	32755897	55146650	136007626	47	43381											
RBM46	166863	genome.wustl.edu	37	chr4	155718963	155718963	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttcatttttgtcgttcagGttgggaaggtccacctccac	6	16	9	10	1	2	0	2	0	0	0	5	1	4	1	3	3	0	2	3	3	1	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr4:155718963G>T	ENST00000281722.3	+	3	387	c.152G>T	c.(151-153)gGt>gTt	p.G51V	RBM46_ENST00000514866.1_Splice_Site_p.G51V|RBM46_ENST00000510397.1_Splice_Site_p.G51V	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	51							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGTCGTTCAGGTTGGGAAGGT	0.358																																																	0													83	83	83					4																	155718963		2203	4300	6503	SO:0001630	splice_region_variant	0			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.152-1G>T	4.37:g.155718963G>T			B3KWU8|B4DZ27	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.G51V	ENST00000281722.3	37	c.152	CCDS3790.1	4	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464463	0.26335	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397;ENST00000512640	T;T;T;T	0.42513	2.22;0.97;2.37;0.97	5.83	4.99	0.66335	Nucleotide-binding, alpha-beta plait (1);	0.093412	0.64402	D	0.000001	T	0.48447	0.1500	L	0.52364	1.645	0.80722	D	1	P;B;B	0.50156	0.932;0.034;0.004	P;B;B	0.51701	0.677;0.097;0.04	T	0.34129	-0.9841	9	.	.	.	.	14.3596	0.66761	0.0704:0.0:0.9296:0.0	.	51;51;51	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	V	51	ENSP00000424500:G51V;ENSP00000281722:G51V;ENSP00000422813:G51V;ENSP00000426672:G51V	.	G	+	2	0	RBM46	155938413	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	4.773000	0.62331	2.763000	0.94921	0.563000	0.77884	GGT	RBM46	-	tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000151962		0.358	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM46	HGNC	protein_coding	OTTHUMT00000365259.1	-	0	40	0	G	NM_144979	Missense_Mutation	155718963	1	tier1	-	no_errors	ENST00000281722	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T	T	155718963	G	T	155718963	5	4	173	1	0	0	0	0	0	0	1	0	13185	1275	44	3	158	3	RBM46	4	155718963	Splice_Site	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	100572313	155718963	35435313	48	43382											
F2RL1	2150	genome.wustl.edu	37	chr5	76129237	76129237	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgctgatgatcagaatgCtgcgatcttctgccatggat	9	13	11	8	1	3	3	1	2	2	1	3	5	3	4	1	1	4	2	1	1	1	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr5:76129237C>G	ENST00000296677.4	+	2	1011	c.805C>G	c.(805-807)Ctg>Gtg	p.L269V		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	269					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GATCAGAATGCTGCGATCTTC	0.498																																																	0													138	132	134					5																	76129237		2203	4300	6503	SO:0001583	missense	0			BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.805C>G	5.37:g.76129237C>G	ENSP00000296677:p.Leu269Val		Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Pro_rcpt_2,prints_Protea_act_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L269V	ENST00000296677.4	37	c.805	CCDS4033.1	5	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647373	0.29246	.	.	ENSG00000164251	ENST00000296677	T	0.45276	0.9	5.44	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.136550	0.51477	D	0.000083	T	0.68540	0.3012	M	0.89534	3.04	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.73142	-0.4076	9	.	.	.	-20.7769	12.0904	0.53722	0.0:0.8607:0.0:0.1393	.	269	P55085	PAR2_HUMAN	V	269	ENSP00000296677:L269V	.	L	+	1	2	F2RL1	76164993	0.998000	0.40836	0.005000	0.12908	0.016000	0.09150	4.006000	0.57083	0.688000	0.31529	-0.126000	0.14955	CTG	F2RL1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM	ENSG00000164251		0.498	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL1	HGNC	protein_coding	OTTHUMT00000219957.2	-	0	61	0	C			76129237	1	tier1	-	no_errors	ENST00000296677	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.950	G	G	76129237	C	G	76129237	3	3	173	1	0	0	0	0	1	0	0	0	5360	796	28	5	811	5	F2RL1	5	76129237	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09		76129237	104786023	49	43383											
PRR16	51334	genome.wustl.edu	37	chr5	120022157	120022157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgactgtgatacccGgtataacataaaaaacaggg	14	10	9	8	1	0	2	0	2	0	0	1	2	1	2	2	2	3	1	2	2	6	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr5:120022157G>T	ENST00000407149.2	+	2	877	c.668G>T	c.(667-669)cGg>cTg	p.R223L	PRR16_ENST00000446965.1_Missense_Mutation_p.R153L|PRR16_ENST00000505123.1_Missense_Mutation_p.R153L|PRR16_ENST00000379551.2_Missense_Mutation_p.R200L			Q569H4	LARGN_HUMAN	proline rich 16	223	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.R200Q(1)		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)		TGTGATACCCGGTATAACATA	0.507																																																	1	Substitution - Missense(1)	lung(1)											72	73	73					5																	120022157		2203	4300	6503	SO:0001583	missense	0			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.668G>T	5.37:g.120022157G>T	ENSP00000385118:p.Arg223Leu		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	NULL	p.R223L	ENST00000407149.2	37	c.668		5	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382993	0.61845	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.45	5.45	0.79879	.	0.074066	0.56097	D	0.000021	T	0.46619	0.1402	L	0.51422	1.61	0.39408	D	0.966708	P;D	0.53312	0.946;0.959	P;P	0.51385	0.538;0.668	T	0.42258	-0.9462	9	.	.	.	-0.5089	11.5852	0.50914	0.0828:0.0:0.9172:0.0	.	223;200	Q569H4;Q569H4-3	PRR16_HUMAN;.	L	223;200;153;153	ENSP00000385118:R223L;ENSP00000368869:R200L;ENSP00000423446:R153L;ENSP00000405491:R153L	.	R	+	2	0	PRR16	120050056	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.967000	0.70403	2.563000	0.86464	0.650000	0.86243	CGG	PRR16	-	NULL	ENSG00000184838		0.507	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1		0	29	0	G	NM_016644		120022157	1			no_errors	ENST00000407149	ensembl	human	known	74_37	missense	6.45	28	2	SNP	1.000	T	T	120022157	G	T	120022157	3	4	173	1	0	0	0	0	1	0	0	0	12631	1116	39	2	605	2	PRR16	5	120022157	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	43892920	120022157	60893103	50	43384											
PANK3	79646	genome.wustl.edu	37	chr5	167988397	167988397	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtgttttttgtttttttaCctcattaacagcacacattc	8	21	4	8	0	1	0	1	0	0	0	2	0	1	0	1	0	3	3	1	0	2	10			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr5:167988397C>T	ENST00000239231.6	-	5	1253		c.e5+1		PANK3_ENST00000520504.1_Splice_Site|MIR103A1_ENST00000362165.1_RNA	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3						coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			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)		TGTTTTTTTACCTCATTAACA	0.383																																																	0													46	48	47					5																	167988397		2203	4300	6503	SO:0001630	splice_region_variant	0			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.936+1G>A	5.37:g.167988397C>T			D3DQL1|Q53FJ9|Q7RTX4	Splice_Site	SNP	-	e5+1	ENST00000239231.6	37	c.936+1	CCDS4368.1	5	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185072	0.78677	.	.	ENSG00000120137	ENST00000239231	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2612	0.87070	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PANK3	167920975	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.306000	0.77630	0.555000	0.69702	.	PANK3	-	-	ENSG00000120137		0.383	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK3	HGNC	protein_coding	OTTHUMT00000252793.2		0	38	0	C	NM_024594	Intron	167988397	-1			no_errors	ENST00000239231	ensembl	human	known	74_37	splice_site	5.00	56	3	SNP	1.000	T	T	167988397	C	T	167988397	5	4	173	1	0	0	0	0	0	0	1	0	11457	521	18	3	187	3	PANK3	5	167988397	Splice_Site	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	47966240	167988397	12926863	51	43385											
HRH2	3274	genome.wustl.edu	37	chr5	175110302	175110302	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcaagatcaccatcacCgtggtccttgcggtcctcat	8	10	9	14	2	3	1	3	0	0	1	5	1	5	1	4	2	2	2	4	2	1	1	rs139350514	byFrequency	TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr5:175110302C>A	ENST00000231683.2	+	1	1839	c.66C>A	c.(64-66)acC>acA	p.T22T	HRH2_ENST00000377291.2_Silent_p.T22T	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	22					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.T22T(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TCACCATCACCGTGGTCCTTG	0.592																																																	2	Substitution - coding silent(2)	large_intestine(2)											238	212	221					5																	175110302		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.66C>A	5.37:g.175110302C>A			B5BUP7|Q14464|Q7Z5R9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt	p.T22	ENST00000231683.2	37	c.66	CCDS4395.1	5																																																																																			HRH2	-	prints_GPCR_Rhodpsn	ENSG00000113749		0.592	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1		0	83	0	C			175110302	1			no_errors	ENST00000377291	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.000	A	A	175110302	C	A	175110302	2	1	173	1	0	0	0	0	0	0	0	1	7383	639	23	2		2	HRH2	5	175110302	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	7121905	175110302	5804958	52	43386											
TPMT	7172	genome.wustl.edu	37	chr6	18130964	18130964	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccaacttttatgtcgttCttcaaaagcatcaaccttct	10	15	3	13	1	4	0	2	0	2	0	6	0	5	0	3	0	3	2	3	0	5	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr6:18130964C>G	ENST00000309983.4	-	9	758	c.673G>C	c.(673-675)Gaa>Caa	p.E225Q		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	225					methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	thiopurine S-methyltransferase activity (GO:0008119)			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021)	TTATGTCGTTCTTCAAAAGCA	0.308																																					Colon(190;1381 2791 16728 32493)												0													99	99	99					6																	18130964		2203	4299	6502	SO:0001583	missense	0				CCDS4543.1	6p22.3	2014-09-17			ENSG00000137364	ENSG00000137364	2.1.1.67		12014	protein-coding gene	gene with protein product		187680				8316220	Standard	NM_000367		Approved		uc003ncm.3	P51580	OTTHUMG00000014317	ENST00000309983.4:c.673G>C	6.37:g.18130964C>G	ENSP00000312304:p.Glu225Gln		O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62	Missense_Mutation	SNP	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	p.E225Q	ENST00000309983.4	37	c.673	CCDS4543.1	6	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174451	0.57692	.	.	ENSG00000137364	ENST00000309983	T	0.64991	-0.13	5.92	5.05	0.67936	.	0.151446	0.64402	D	0.000018	T	0.39306	0.1073	L	0.45285	1.41	0.50632	D	0.999886	P	0.51351	0.944	B	0.41236	0.351	T	0.29427	-1.0012	10	0.26408	T	0.33	-27.3164	13.621	0.62136	0.0:0.9255:0.0:0.0745	.	225	P51580	TPMT_HUMAN	Q	225	ENSP00000312304:E225Q	ENSP00000312304:E225Q	E	-	1	0	TPMT	18238943	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	3.144000	0.50616	1.521000	0.48983	0.585000	0.79938	GAA	TPMT	-	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	ENSG00000137364		0.308	TPMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPMT	HGNC	protein_coding	OTTHUMT00000039960.1	-	0	68	0	C			18130964	-1	tier1	-	no_errors	ENST00000309983	ensembl	human	known	74_37	missense	14.89	40	7	SNP	1.000	G	G	18130964	C	G	18130964	3	3	173	1	0	0	0	0	1	0	0	0	16457	922	32	5	68	5	TPMT	6	18130964	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09		18130964	152984103	53	43387											
PRRT1	80863	genome.wustl.edu	37	chr6	32118208	32118208	+	Silent	SNP	C	C	T	0	0	0	1	1	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	agctgcagggggtatccgggCgctacgtagccccccagcgg	6	5	16	14	4	0	0	0	0	0	0	1	0	1	0	4	4	5	5	4	4	3	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr6:32118208C>T	ENST00000211413.5	-	2	619	c.495G>A	c.(493-495)gcG>gcA	p.A165A	PRRT1_ENST00000467780.1_5'Flank|PRRT1_ENST00000375152.2_Silent_p.A84A|PRRT1_ENST00000375150.2_Silent_p.A84A	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	165					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A165A(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGTATCCGGGCGCTACGTAGC	0.726																																																	1	Substitution - coding silent(1)	lung(1)											24	22	23					6																	32118208		1505	2705	4210	SO:0001819	synonymous_variant	0			AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"Proline-rich transmembrane proteins"	13943	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 7"		"chromosome 6 open reading frame 31"	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.495G>A	6.37:g.32118208C>T			A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Silent	SNP	pfam_CD225/Dispanin_fam	p.A165	ENST00000211413.5	37	c.495	CCDS4739.1	6																																																																																			PRRT1	-	NULL	ENSG00000204314		0.726	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT1	HGNC	protein_coding	OTTHUMT00000076255.2		0	17	0	C	NM_030651		32118208	-1			no_errors	ENST00000211413	ensembl	human	known	74_37	silent	48.00	13	12	SNP	0.806	T	T	32118208	C	T	32118208	2	4	173	1	0	0	0	0	0	0	0	1	12651	755	27	1		1	PRRT1	6	32118208	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	13987244	32118208	138996859	54	43388											
COL11A2	1302	genome.wustl.edu	37	chr6	33147260	33147260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagggggtccacggagcGccagctaggggagcaggggg	7	2	22	10	2	0	0	0	0	0	0	1	2	1	2	3	8	3	2	3	8	1	1	rs143965711		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr6:33147260G>A	ENST00000374708.4	-	12	1451	c.1193C>T	c.(1192-1194)gCg>gTg	p.A398V	COL11A2_ENST00000477772.1_5'Flank|COL11A2_ENST00000395197.1_Missense_Mutation_p.A424V|COL11A2_ENST00000374714.1_Missense_Mutation_p.A458V|COL11A2_ENST00000374712.1_Missense_Mutation_p.A403V|COL11A2_ENST00000341947.2_Missense_Mutation_p.A484V|COL11A2_ENST00000357486.1_Missense_Mutation_p.A463V|COL11A2_ENST00000374713.1_Missense_Mutation_p.A437V|COL11A2_ENST00000361917.1_Missense_Mutation_p.A377V	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	484	Nonhelical 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						TCCACGGAGCGCCAGCTAGGG	0.632																																					Melanoma(1;90 116 3946 5341 17093)												0									VAL/ALA,VAL/ALA,VAL/ALA	1,2969		0,1,1484	24	11	16		1130,1451,1193	4.8	1	6	dbSNP_134	16	0,5362		0,0,2681	no	missense,missense,missense	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	64,64,64	0,1,4165	AA,AG,GG		0.0,0.0337,0.012	probably-damaging,probably-damaging,probably-damaging	377/1630,484/1737,398/1651	33147260	1,8331	1485	2681	4166	SO:0001583	missense	0			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.1193C>T	6.37:g.33147260G>A	ENSP00000363840:p.Ala398Val		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.A484V	ENST00000374708.4	37	c.1451	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	19.85	3.902925	0.72754	3.37E-4	0.0	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	D;D;D;D;D;D;D;D;D	0.90788	-2.48;-2.41;-2.44;-2.45;-2.45;-2.44;-2.55;-2.44;-2.73	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.94532	0.8239	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.962;0.957;0.995	D	0.95062	0.8196	10	0.87932	D	0	.	15.3205	0.74117	0.0:0.0:1.0:0.0	.	377;398;484	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	V	398;484;463;458;437;424;403;377;484	ENSP00000363840:A398V;ENSP00000339915:A484V;ENSP00000350079:A463V;ENSP00000363846:A458V;ENSP00000363845:A437V;ENSP00000378623:A424V;ENSP00000363844:A403V;ENSP00000355123:A377V;ENSP00000405520:A484V	ENSP00000339915:A484V	A	-	2	0	COL11A2	33255238	1.000000	0.71417	0.954000	0.39281	0.213000	0.24496	5.939000	0.70179	2.477000	0.83638	0.549000	0.68633	GCG	COL11A2	-	NULL	ENSG00000204248		0.632	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	-	0	74	0	G			33147260	-1	tier1	rs143965711	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	20.27	59	15	SNP	0.998	A	A	33147260	G	A	33147260	3	1	173	1	0	0	0	0	1	0	0	0	3675	1087	38	1	3971	1	COL11A2	6	33147260	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	1029052	33147260	137967807	55	43389											
STK38	11329	genome.wustl.edu	37	chr6	36483136	36483136	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttgctgtccaaaagaaggttGtctggtttgatgtctctgtg	7	16	12	6	0	2	2	0	1	2	1	4	2	3	2	1	2	1	3	1	2	3	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr6:36483136G>T	ENST00000229812.7	-	7	933	c.648C>A	c.(646-648)gaC>gaA	p.D216E		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAAGAAGGTTGTCTGGTTTGA	0.458																																					Colon(180;997 3561 16158)												0													232	196	208					6																	36483136		2203	4300	6503	SO:0001583	missense	0				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.648C>A	6.37:g.36483136G>T	ENSP00000229812:p.Asp216Glu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.D216E	ENST00000229812.7	37	c.648	CCDS4822.1	6	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468744	0.84533	.	.	ENSG00000112079	ENST00000229812	T	0.35789	1.29	5.78	3.97	0.46021	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	0.28896	0.0717	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.12528	-1.0544	10	0.87932	D	0	.	9.0937	0.36625	0.2425:0.0:0.7575:0.0	.	216	Q15208	STK38_HUMAN	E	216	ENSP00000229812:D216E	ENSP00000229812:D216E	D	-	3	2	STK38	36591114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.930000	0.40124	2.730000	0.93505	0.655000	0.94253	GAC	STK38	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000112079		0.458	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38	HGNC	protein_coding	OTTHUMT00000040346.1		0	53	0	G	NM_007271		36483136	-1			no_errors	ENST00000229812	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	36483136	G	T	36483136	3	4	173	1	0	0	0	0	1	0	0	0	15350	1368	48	3	781	3	STK38	6	36483136	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	3335876	36483136	134631931	56	43390											
DST	667	genome.wustl.edu	37	chr6	56489969	56489969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattacctcttgaataatgaGatctgctgaactctgcattc	11	15	6	9	0	3	3	0	3	3	1	4	4	3	3	1	0	4	2	1	0	5	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr6:56489969G>C	ENST00000361203.3	-	31	4190	c.4183C>G	c.(4183-4185)Ctc>Gtc	p.L1395V	DST_ENST00000446842.2_Missense_Mutation_p.L1069V|DST_ENST00000312431.6_Missense_Mutation_p.L1395V|DST_ENST00000518935.1_Missense_Mutation_p.L1069V|DST_ENST00000370754.5_Missense_Mutation_p.L1573V|DST_ENST00000370788.2_Missense_Mutation_p.L1395V|DST_ENST00000244364.6_Missense_Mutation_p.L1069V|DST_ENST00000370765.6_Missense_Mutation_p.L1069V|DST_ENST00000370769.4_Missense_Mutation_p.L1395V|DST_ENST00000421834.2_Missense_Mutation_p.L1395V			Q03001	DYST_HUMAN	dystonin	1395					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)			TGAATAATGAGATCTGCTGAA	0.353																																																	0													133	136	135					6																	56489969		2203	4300	6503	SO:0001583	missense	0			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.4183C>G	6.37:g.56489969G>C	ENSP00000354508:p.Leu1395Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L1573V	ENST00000361203.3	37	c.4717		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.076|1.076	-0.668406|-0.668406	0.03403|0.03403	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000522360|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.78126	.|1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;-1.15;1.82;-1.15	4.99|4.99	0.686|0.686	0.18015|0.18015	.|.	.|0.693493	.|0.12454	.|N	.|0.467504	T|T	0.33904|0.33904	0.0879|0.0879	N|N	0.05306|0.05306	-0.075|-0.075	.|.	.|.	.|.	.|B;P;P;B;B;B;B;B	.|0.45428	.|0.0;0.858;0.473;0.0;0.113;0.04;0.0;0.022	.|B;B;B;B;B;B;B;B	.|0.43386	.|0.0;0.418;0.056;0.001;0.032;0.034;0.0;0.022	T|T	0.08576|0.08576	-1.0715|-1.0715	4|9	.|0.16420	.|T	.|0.52	.|.	5.4189|5.4189	0.16390|0.16390	0.2576:0.4794:0.263:0.0|0.2576:0.4794:0.263:0.0	.|.	.|1395;1395;1573;1069;1069;1069;1395;1069	.|Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.|.;.;.;.;.;.;DYST_HUMAN;.	M|V	66|1069;1573;1395;1395;1069;1395;1395;1395;1069;1435;1069;1069	.|ENSP00000244364:L1069V;ENSP00000359790:L1573V;ENSP00000359805:L1395V;ENSP00000400883:L1395V;ENSP00000393645:L1069V;ENSP00000307959:L1395V;ENSP00000359824:L1395V;ENSP00000354508:L1395V;ENSP00000404924:L1069V;ENSP00000431030:L1435V;ENSP00000359801:L1069V;ENSP00000431003:L1069V	.|ENSP00000244364:L1069V	I|L	-|-	3|1	3|0	DST|DST	56597928|56597928	0.998000|0.998000	0.40836|0.40836	0.991000|0.991000	0.47740|0.47740	0.997000|0.997000	0.91878|0.91878	1.222000|1.222000	0.32515|0.32515	0.196000|0.196000	0.20367|0.20367	0.563000|0.563000	0.77884|0.77884	ATC|CTC	DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	96	0	G	NM_001723		56489969	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	18.89	73	17	SNP	0.441	C	C	56489969	G	C	56489969	3	2	173	1	0	0	0	0	1	0	0	0	4797	942	33	5	17206	5	DST	6	56489969	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	20006833	56489969	114625098	57	43391											
COL9A1	1297	genome.wustl.edu	37	chr6	70992691	70992691	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgcaacttacttgagccGcgcacaagcagagccccaac	12	5	9	15	3	0	2	0	1	0	1	1	3	0	2	3	0	6	3	3	0	4	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr6:70992691G>A	ENST00000357250.6	-	7	939				COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000370496.3_Intron|COL9A1_ENST00000320755.7_Missense_Mutation_p.A22V|COL9A1_ENST00000370499.4_Missense_Mutation_p.A22V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						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						TACTTGAGCCGCGCACAAGCA	0.642																																																	0													63	70	68					6																	70992691		2203	4300	6503	SO:0001627	intron_variant	0				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.781-70C>T	6.37:g.70992691G>A			Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen	p.A22V	ENST00000357250.6	37	c.65	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804678	0.31961	.	.	ENSG00000112280	ENST00000320755;ENST00000370499	D;D	0.91686	-2.68;-2.89	5.23	-0.727	0.11166	.	.	.	.	.	T	0.70237	0.3201	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.60167	-0.7316	9	0.28530	T	0.3	.	8.1606	0.31196	0.6697:0.0:0.3303:0.0	.	22	P20849-2	.	V	22	ENSP00000315252:A22V;ENSP00000359530:A22V	ENSP00000315252:A22V	A	-	2	0	COL9A1	71049412	0.002000	0.14202	0.005000	0.12908	0.881000	0.50899	0.427000	0.21379	-0.052000	0.13311	0.561000	0.74099	GCG	COL9A1	-	NULL	ENSG00000112280		0.642	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2		0	68	0	G			70992691	-1			no_errors	ENST00000320755	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.019	A	A	70992691	G	A	70992691	1	1	173	0	1	0	0	0	0	0	0	0	3714	1087	38	1		1	COL9A1	6	70992691	Intron	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	14502722	70992691	100122376	58	43392											
CLVS2	134829	genome.wustl.edu	37	chr6	123376961	123376961	+	Missense_Mutation	SNP	A	A	C	1	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	gcatttatagatatttttgcAtggtaacaacctgaacagtc	13	14	7	7	0	0	2	0	1	0	1	1	2	0	2	1	1	4	3	1	1	6	7			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr6:123376961A>C	ENST00000275162.5	+	5	2021	c.686A>C	c.(685-687)cAt>cCt	p.H229P	CLVS2_ENST00000368438.1_Missense_Mutation_p.H83P	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	229	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATATTTTTGCATGGTAACAAC	0.448																																																	0													145	130	135					6																	123376961		2203	4300	6503	SO:0001583	missense	0			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.686A>C	6.37:g.123376961A>C	ENSP00000275162:p.His229Pro		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.H229P	ENST00000275162.5	37	c.686	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	A	23.2	4.389430	0.82902	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.76709	-1.04;-1.04	5.64	5.64	0.86602	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	M	0.91872	3.25	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.91572	0.5272	10	0.87932	D	0	-12.9149	15.8713	0.79122	1.0:0.0:0.0:0.0	.	229	Q5SYC1	CLVS2_HUMAN	P	229;83	ENSP00000275162:H229P;ENSP00000357423:H83P	ENSP00000275162:H229P	H	+	2	0	CLVS2	123418660	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.962000	0.93254	2.144000	0.66660	0.533000	0.62120	CAT	CLVS2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000146352		0.448	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	-	0	37	0	A	NM_001010852		123376961	1	tier1	-	no_errors	ENST00000275162	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	C	C	123376961	A	C	123376961	3	2	173	1	0	0	0	0	1	0	0	0	3579	217	8	4	700	4	CLVS2	6	123376961	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	52384270	123376961	47738106	59	43393											
EPB41L2	2037	genome.wustl.edu	37	chr6	131186736	131186736	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtgatggtttgtgcggtCagtaacgtgcccgaatcacc	8	11	13	9	3	2	1	2	1	0	0	2	3	2	1	2	2	3	2	2	2	2	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr6:131186736C>G	ENST00000337057.3	-	17	2950	c.2769G>C	c.(2767-2769)ctG>ctC	p.L923L	EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000528282.1_Silent_p.L665L|EPB41L2_ENST00000530481.1_Silent_p.L770L|EPB41L2_ENST00000525193.1_Silent_p.L624L|EPB41L2_ENST00000527411.1_Silent_p.L853L|EPB41L2_ENST00000368128.2_Silent_p.L923L|EPB41L2_ENST00000445890.2_Silent_p.L665L|EPB41L2_ENST00000527659.1_Silent_p.L729L|EPB41L2_ENST00000524581.1_Silent_p.L301L|EPB41L2_ENST00000529208.1_Silent_p.L853L|EPB41L2_ENST00000531410.1_Silent_p.L44L|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	923	C-terminal (CTD).				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)		TTTGTGCGGTCAGTAACGTGC	0.463																																																	0													304	224	251					6																	131186736		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2769G>C	6.37:g.131186736C>G			B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain	p.L923	ENST00000337057.3	37	c.2769	CCDS5141.1	6																																																																																			EPB41L2	-	pirsf_Band_41_protein,pfam_Band_4.1_C	ENSG00000079819		0.463	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3	-	0	70	0	C			131186736	-1	tier1	-	no_errors	ENST00000337057	ensembl	human	known	74_37	silent	35.44	51	28	SNP	1.000	G	G	131186736	C	G	131186736	2	3	173	1	0	0	0	0	0	0	0	1	5169	813	29	5		5	EPB41L2	6	131186736	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	7809775	131186736	39928331	60	43394											
C7orf70	84792	genome.wustl.edu	37	chr7	6370735	6370735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagtcacctcctccggcCtgctgcacttgtgccaggca	5	9	10	17	2	1	0	1	0	0	0	4	1	4	0	6	2	3	3	6	2	0	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr7:6370735C>A	ENST00000313324.4	-	2	518	c.51G>T	c.(49-51)caG>caT	p.Q17H	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	17						nucleus (GO:0005634)											CTCCTCCGGCCTGCTGCACTT	0.592																																																	0													27	29	29					7																	6370735		2156	4189	6345	SO:0001583	missense	0			BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"STAT3-interacting protein as a repressor"		"chromosome 7 open reading frame 70"	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.51G>T	7.37:g.6370735C>A	ENSP00000317289:p.Gln17His		Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	NULL	p.Q17H	ENST00000313324.4	37	c.51	CCDS34599.1	7	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453868	0.26161	.	.	ENSG00000178397	ENST00000313324;ENST00000524898;ENST00000530143	T;T;T	0.09255	3.0;3.0;3.0	5.53	-5.06	0.02946	.	1.545160	0.04743	U	0.423204	T	0.09379	0.0231	L	0.34521	1.04	0.09310	N	1	B	0.29188	0.236	B	0.21360	0.034	T	0.20605	-1.0270	10	0.38643	T	0.18	3.054	15.2942	0.73891	0.0:0.256:0.0:0.744	.	17	Q7Z4H9	SIPAR_HUMAN	H	17	ENSP00000317289:Q17H;ENSP00000432444:Q17H;ENSP00000436886:Q17H	ENSP00000317289:Q17H	Q	-	3	2	C7orf70	6337260	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.015000	0.03637	-1.213000	0.02617	-0.140000	0.14226	CAG	FAM220A	-	NULL	ENSG00000178397		0.592	FAM220A-001	KNOWN	basic|CCDS	protein_coding	FAM220A	HGNC	protein_coding	OTTHUMT00000242853.2	-	0	54	0	C	NM_001037163		6370735	-1	tier1	-	no_errors	ENST00000313324	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.000	A	A	6370735	C	A	6370735	3	1	173	1	0	0	0	0	1	0	0	0	2422	680	24	3	732	3	C7orf70	7	6370735	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09		6370735	152767928	61	43395											
NOD1	10392	genome.wustl.edu	37	chr7	30477261	30477261	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccttcatccccaacttgaTtgccccacatcctgagggag	8	10	7	16	0	1	2	1	2	0	0	4	3	4	3	6	1	2	0	6	1	1	3	rs55924701		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr7:30477261T>A	ENST00000222823.4	-	10	2990	c.2465A>T	c.(2464-2466)aAt>aTt	p.N822I		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	822					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|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 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCCAACTTGATTGCCCCACAT	0.557																																																	0													94	72	79					7																	30477261		2203	4300	6503	SO:0001583	missense	0			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2465A>T	7.37:g.30477261T>A	ENSP00000222823:p.Asn822Ile		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.N822I	ENST00000222823.4	37	c.2465	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771374	0.69992	.	.	ENSG00000106100	ENST00000222823	T	0.66995	-0.24	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88882	0.3340	10	0.87932	D	0	.	12.6461	0.56735	0.0:0.0:0.0:1.0	.	822	Q9Y239	NOD1_HUMAN	I	822	ENSP00000222823:N822I	ENSP00000222823:N822I	N	-	2	0	NOD1	30443786	1.000000	0.71417	0.762000	0.31397	0.761000	0.43186	6.195000	0.72088	2.006000	0.58801	0.533000	0.62120	AAT	NOD1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000106100		0.557	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	HGNC	protein_coding	OTTHUMT00000250443.2	-	0	62	0	T			30477261	-1	tier1	-	no_errors	ENST00000222823	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.980	A	A	30477261	T	A	30477261	3	1	173	1	0	0	0	0	1	0	0	0	10555	1493	52	5	416	5	NOD1	7	30477261	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	24106526	30477261	128661402	62	43396											
ZNF107	51427	genome.wustl.edu	37	chr7	64168548	64168548	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcttataaccgattctcaaaCctaactatacataagagaat	17	11	4	9	1	1	1	1	0	1	1	2	3	1	1	2	0	4	1	2	0	8	7			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr7:64168548C>A	ENST00000395391.1	+	4	3241	c.1866C>A	c.(1864-1866)aaC>aaA	p.N622K	ZNF107_ENST00000344930.3_Missense_Mutation_p.N622K|ZNF107_ENST00000423627.1_Missense_Mutation_p.N622K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	622					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)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GATTCTCAAACCTAACTATAC	0.358																																																	0													42	48	46					7																	64168548		2202	4297	6499	SO:0001583	missense	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1866C>A	7.37:g.64168548C>A	ENSP00000378789:p.Asn622Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N622K	ENST00000395391.1	37	c.1866	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	11.85	1.760693	0.31137	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.21932	1.98;1.98;1.98	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13628	0.0330	N	0.25890	0.77	0.09310	N	1	B	0.31435	0.323	B	0.32928	0.155	T	0.29671	-1.0004	8	.	.	.	.	7.9559	0.30042	0.0:1.0:0.0:0.0	.	622	Q9UII5	ZN107_HUMAN	K	622	ENSP00000343443:N622K;ENSP00000400037:N622K;ENSP00000378789:N622K	.	N	+	3	2	ZNF107	63805983	0.000000	0.05858	0.277000	0.24703	0.825000	0.46686	-1.833000	0.01695	0.635000	0.30488	0.313000	0.20887	AAC	ZNF107	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196247		0.358	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	-	0	67	0	C	NM_016220		64168548	1	tier1	-	no_errors	ENST00000344930	ensembl	human	known	74_37	missense	25.00	42	14	SNP	0.085	A	A	64168548	C	A	64168548	3	1	173	1	0	0	0	0	1	0	0	0	17763	506	18	3	1872	3	ZNF107	7	64168548	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	33691287	64168548	94970115	63	43397											
PCLO	27445	genome.wustl.edu	37	chr7	82583352	82583352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattccattcccagtttccTtcttggctttcttcactggg	4	18	7	12	0	3	1	1	1	2	0	6	1	6	1	3	2	0	2	3	2	0	7			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr7:82583352T>C	ENST00000333891.9	-	5	7254	c.6917A>G	c.(6916-6918)aAg>aGg	p.K2306R	PCLO_ENST00000423517.2_Missense_Mutation_p.K2306R	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						CCCAGTTTCCTTCTTGGCTTT	0.418																																																	0													138	137	138					7																	82583352		1827	4101	5928	SO:0001583	missense	0			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.6917A>G	7.37:g.82583352T>C	ENSP00000334319:p.Lys2306Arg			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.K2306R	ENST00000333891.9	37	c.6917	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	8.483	0.860342	0.17178	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16597	2.33;2.33	5.23	2.41	0.29592	.	.	.	.	.	T	0.14227	0.0344	L	0.36672	1.1	0.19945	N	0.999943	B;B	0.30281	0.275;0.275	B;B	0.33042	0.101;0.157	T	0.25222	-1.0138	9	0.87932	D	0	.	6.4196	0.21736	0.144:0.1192:0.0:0.7368	.	2306;2306	Q9Y6V0-5;Q9Y6V0-6	.;.	R	2237;2306;2306	ENSP00000334319:K2306R;ENSP00000388393:K2306R	ENSP00000334319:K2306R	K	-	2	0	PCLO	82421288	0.136000	0.22515	0.980000	0.43619	0.586000	0.36452	0.349000	0.20055	0.782000	0.33613	0.413000	0.27773	AAG	PCLO	-	NULL	ENSG00000186472		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	66	0	T	NM_014510		82583352	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	19.67	49	12	SNP	0.229	C	C	82583352	T	C	82583352	3	2	173	1	0	0	0	0	1	0	0	0	11622	1609	56	4	8612	4	PCLO	7	82583352	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	18414804	82583352	76555311	64	43398											
GRM3	2913	genome.wustl.edu	37	chr7	86394858	86394858	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgtgtcctgatggatcctatGccattcaagaaaacatccca	12	11	7	11	0	1	2	1	1	0	1	4	3	4	3	4	1	2	0	4	1	4	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr7:86394858G>T	ENST00000361669.2	+	2	1496	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.A131S|GRM3_ENST00000439827.1_Missense_Mutation_p.A133S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	133					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)					TGGATCCTATGCCATTCAAGA	0.428																																					GBM(52;969 1098 3139 52280)												0													139	126	131					7																	86394858		2203	4300	6503	SO:0001583	missense	0				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.397G>T	7.37:g.86394858G>T	ENSP00000355316:p.Ala133Ser		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.A133S	ENST00000361669.2	37	c.397	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592054	0.66219	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720	D;D;D	0.85013	-1.93;-1.93;-1.93	5.13	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	N	0.21194	0.64	0.80722	D	1	P;B	0.36110	0.537;0.399	B;B	0.40782	0.236;0.34	T	0.82839	-0.0259	10	0.66056	D	0.02	.	17.7499	0.88430	0.0:0.0:1.0:0.0	.	133;133	G5E9K2;Q14832	.;GRM3_HUMAN	S	133;133;131	ENSP00000355316:A133S;ENSP00000398767:A133S;ENSP00000378209:A131S	ENSP00000355316:A133S	A	+	1	0	GRM3	86232794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.701000	0.84566	2.675000	0.91044	0.655000	0.94253	GCC	GRM3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_3	ENSG00000198822		0.428	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	-	0	39	0	G			86394858	1	tier1	-	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	86394858	G	T	86394858	3	4	173	1	0	0	0	0	1	0	0	0	6825	1319	46	3	399	3	GRM3	7	86394858	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	3811506	86394858	72743805	65	43399											
FBXL13	222235	genome.wustl.edu	37	chr7	102462523	102462523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtattgcatcttaaggatcCggagttgtttgcagcctatc	9	14	10	8	1	1	0	0	0	1	0	3	2	2	2	2	2	3	5	2	2	3	6	rs578059195		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr7:102462523C>T	ENST00000313221.4	-	19	2408	c.1982G>A	c.(1981-1983)cGg>cAg	p.R661Q	FBXL13_ENST00000393772.2_Missense_Mutation_p.R633Q|FBXL13_ENST00000379308.3_Missense_Mutation_p.R616Q|FBXL13_ENST00000379305.3_Missense_Mutation_p.R633Q|FBXL13_ENST00000455112.2_Missense_Mutation_p.R616Q|FBXL13_ENST00000379306.3_Missense_Mutation_p.R379Q|FBXL13_ENST00000456695.1_Missense_Mutation_p.R379Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.R661Q	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	661										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTTAAGGATCCGGAGTTGTTT	0.393													C|||	1	0.000199681	0	0	5008	,	,		21418	0.001		0	False		,,,				2504	0																0													168	158	161					7																	102462523		2203	4300	6503	SO:0001583	missense	0			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.1982G>A	7.37:g.102462523C>T	ENSP00000321927:p.Arg661Gln		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.R661Q	ENST00000313221.4	37	c.1982	CCDS5726.1	7	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475986	0.63737	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.52754	4.71;0.65;2.73;4.71;4.71;4.71;2.73;0.65	6.17	6.17	0.99709	.	0.271361	0.31156	N	0.008146	T	0.33585	0.0868	N	0.20766	0.605	0.20975	N	0.999818	P;P;D;P	0.55800	0.89;0.702;0.973;0.824	B;B;B;B	0.43052	0.275;0.196;0.406;0.098	T	0.30707	-0.9969	10	0.30854	T	0.27	.	11.6036	0.51017	0.0:0.9203:0.0:0.0797	.	616;379;633;661	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	Q	633;616;379;382;633;661;661;379;616	ENSP00000377367:R633Q;ENSP00000368610:R616Q;ENSP00000368608:R379Q;ENSP00000368607:R633Q;ENSP00000388608:R661Q;ENSP00000321927:R661Q;ENSP00000409716:R379Q;ENSP00000391550:R616Q	ENSP00000321927:R661Q	R	-	2	0	FBXL13	102249759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.651000	0.37302	2.941000	0.99782	0.655000	0.94253	CGG	FBXL13	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000161040		0.393	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1		0	69	0	C	NM_145032		102462523	-1			no_errors	ENST00000313221	ensembl	human	known	74_37	missense	5.62	84	5	SNP	1.000	T	T	102462523	C	T	102462523	3	4	173	1	0	0	0	0	1	0	0	0	5731	652	23	1	233	1	FBXL13	7	102462523	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	16067665	102462523	56676140	66	43400											
LRRN3	54674	genome.wustl.edu	37	chr7	110763811	110763811	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgtcttacattcaccccaAtgcatttttcagactcccca	10	14	3	14	0	3	1	2	0	1	1	4	1	4	1	4	0	2	1	4	0	2	5	rs139637326	byFrequency	TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr7:110763811A>T	ENST00000422987.3	+	2	1814	c.983A>T	c.(982-984)aAt>aTt	p.N328I	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N328I|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.N328I|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	328					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATTCACCCCAATGCATTTTTC	0.448																																																	0													100	100	100					7																	110763811		2203	4300	6503	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.983A>T	7.37:g.110763811A>T	ENSP00000412417:p.Asn328Ile		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N328I	ENST00000422987.3	37	c.983	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986805	0.53934	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.57436	0.4;0.4;0.4	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000003	T	0.67878	0.2940	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.65747	-0.6093	10	0.36615	T	0.2	.	16.1535	0.81640	1.0:0.0:0.0:0.0	.	328	Q9H3W5	LRRN3_HUMAN	I	328	ENSP00000312001:N328I;ENSP00000397312:N328I;ENSP00000412417:N328I	ENSP00000312001:N328I	N	+	2	0	LRRN3	110551047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.217000	0.71921	0.528000	0.53228	AAT	LRRN3	-	NULL	ENSG00000173114		0.448	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2		0	63	0	A	NM_018334		110763811	1			no_errors	ENST00000308478	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	110763811	A	T	110763811	3	4	173	1	0	0	0	0	1	0	0	0	9071	101	4	5	985	5	LRRN3	7	110763811	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	8301288	110763811	48374852	67	43401											
FLNC	2318	genome.wustl.edu	37	chr7	128486412	128486412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccaagagccccttccGagtgggcgtgaccgagggct	6	7	15	13	3	0	2	0	1	0	1	1	4	1	2	5	2	2	1	5	2	1	1	rs149641783	byFrequency	TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr7:128486412G>T	ENST00000325888.8	+	23	4283	c.4022G>T	c.(4021-4023)cGa>cTa	p.R1341L	FLNC_ENST00000346177.6_Missense_Mutation_p.R1341L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1341					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						AGCCCCTTCCGAGTGGGCGTG	0.647																																																	0													51	62	58					7																	128486412		2126	4220	6346	SO:0001583	missense	0			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.4022G>T	7.37:g.128486412G>T	ENSP00000327145:p.Arg1341Leu		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R1341L	ENST00000325888.8	37	c.4022	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024411	0.93518	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84516	-1.86;-1.86	5.07	5.07	0.68467	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	M	0.77712	2.385	0.49798	D	0.99982	D;P	0.54207	0.965;0.877	P;P	0.52189	0.692;0.541	D	0.89972	0.4094	10	0.44086	T	0.13	.	18.4511	0.90704	0.0:0.0:1.0:0.0	.	1341;1341	Q14315-2;Q14315	.;FLNC_HUMAN	L	1341	ENSP00000327145:R1341L;ENSP00000344002:R1341L	ENSP00000327145:R1341L	R	+	2	0	FLNC	128273648	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.999000	0.88496	2.360000	0.80028	0.555000	0.69702	CGA	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3		0	23	0	G			128486412	1			no_errors	ENST00000325888	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	T	T	128486412	G	T	128486412	3	4	173	1	0	0	0	0	1	0	0	0	5957	1058	37	2	4112	2	FLNC	7	128486412	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	17722601	128486412	30652251	68	43402											
MYOM2	9172	genome.wustl.edu	37	chr8	2021562	2021562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgtcagcgaccacagcGccttcctgtttgtcagaggt	6	9	13	13	4	2	1	2	0	0	1	3	2	3	1	3	2	2	1	3	2	0	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr8:2021562G>T	ENST00000262113.4	+	10	1243	c.1102G>T	c.(1102-1104)Gcc>Tcc	p.A368S	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	368	Ig-like C2-type 2.				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)		CGACCACAGCGCCTTCCTGTT	0.677																																																	0													40	35	37					8																	2021562		2203	4300	6503	SO:0001583	missense	0				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.1102G>T	8.37:g.2021562G>T	ENSP00000262113:p.Ala368Ser		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A368S	ENST00000262113.4	37	c.1102	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.204957	0.95033	.	.	ENSG00000036448	ENST00000262113	T	0.70516	-0.49	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	D	0.82375	0.5023	M	0.76574	2.34	0.58432	D	0.999996	P	0.50528	0.936	P	0.59825	0.864	D	0.84330	0.0521	10	0.56958	D	0.05	.	18.0821	0.89444	0.0:0.0:1.0:0.0	.	368	P54296	MYOM2_HUMAN	S	368	ENSP00000262113:A368S	ENSP00000262113:A368S	A	+	1	0	MYOM2	2008969	1.000000	0.71417	0.992000	0.48379	0.877000	0.50540	9.433000	0.97501	2.237000	0.73441	0.655000	0.94253	GCC	MYOM2	-	pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub	ENSG00000036448		0.677	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1		0	39	0	G	NM_003970		2021562	1			no_errors	ENST00000262113	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	2021562	G	T	2021562	3	4	173	1	0	0	0	0	1	0	0	0	10130	1087	38	2	1136	2	MYOM2	8	2021562	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		2021562	144342460	69	43403											
GPR124	25960	genome.wustl.edu	37	chr8	37688970	37688970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctcacatcggcgtgtGggcctcaggcgagtgggagt	5	9	17	10	3	2	0	2	0	1	0	4	2	2	1	1	4	0	1	1	4	0	0			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr8:37688970G>T	ENST00000412232.2	+	8	975	c.962G>T	c.(961-963)tGg>tTg	p.W321L	GPR124_ENST00000315215.7_Missense_Mutation_p.W321L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	321	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)			ATCGGCGTGTGGGCCTCAGGC	0.662																																																	0													122	87	99					8																	37688970		2203	4300	6503	SO:0001583	missense	0			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.962G>T	8.37:g.37688970G>T	ENSP00000406367:p.Trp321Leu		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.W321L	ENST00000412232.2	37	c.962	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512727	0.44660	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.50277	0.75;0.75	5.07	5.07	0.68467	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.371746	0.25916	N	0.027476	T	0.40719	0.1128	L	0.36672	1.1	0.26551	N	0.973916	B;B	0.17667	0.013;0.023	B;B	0.24541	0.054;0.01	T	0.40156	-0.9578	10	0.59425	D	0.04	-5.508	13.2759	0.60188	0.0:0.2951:0.7049:0.0	.	321;321	Q96PE1-2;Q96PE1	.;GP124_HUMAN	L	314;321;321	ENSP00000323508:W321L;ENSP00000406367:W321L	ENSP00000323508:W321L	W	+	2	0	GPR124	37808128	0.999000	0.42202	1.000000	0.80357	0.876000	0.50452	2.353000	0.44089	2.377000	0.81083	0.449000	0.29647	TGG	GPR124	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000020181		0.662	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2		0	61	0	G			37688970	1			no_errors	ENST00000412232	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T	T	37688970	G	T	37688970	3	4	173	1	0	0	0	0	1	0	0	0	6664	1357	47	3	971	3	GPR124	8	37688970	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	35667408	37688970	108675052	70	43404											
RP1	6101	genome.wustl.edu	37	chr8	55542624	55542624	+	Missense_Mutation	SNP	T	T	C	0	1	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	cagcggtcagacaaatgaaaTctttaaagcagtcgatgaga	16	8	10	7	2	2	3	1	2	1	2	3	5	2	3	0	1	2	1	0	1	4	2	rs539588544		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr8:55542624T>C	ENST00000220676.1	+	4	6330	c.6182T>C	c.(6181-6183)aTc>aCc	p.I2061T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2061					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)			ACAAATGAAATCTTTAAAGCA	0.348													T|||	1	0.000199681	0	0	5008	,	,		17893	0.001		0	False		,,,				2504	0				Colon(91;1014 1389 7634 14542 40420)												0													60	61	61					8																	55542624		2203	4298	6501	SO:0001583	missense	0			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.6182T>C	8.37:g.55542624T>C	ENSP00000220676:p.Ile2061Thr			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.I2061T	ENST00000220676.1	37	c.6182	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	T	2.649	-0.282436	0.05642	.	.	ENSG00000104237	ENST00000220676	T	0.23950	1.88	5.39	0.0836	0.14434	.	0.608221	0.14381	N	0.323153	T	0.19565	0.0470	L	0.54323	1.7	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25328	-1.0135	10	0.59425	D	0.04	.	2.7573	0.05296	0.3652:0.1889:0.0:0.4459	.	2061	P56715	RP1_HUMAN	T	2061	ENSP00000220676:I2061T	ENSP00000220676:I2061T	I	+	2	0	RP1	55705177	0.013000	0.17824	0.010000	0.14722	0.048000	0.14542	0.321000	0.19558	0.005000	0.14708	0.533000	0.62120	ATC	RP1	-	NULL	ENSG00000104237		0.348	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	43	0	T	NM_006269		55542624	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.104	C	C	55542624	T	C	55542624	3	2	173	1	0	0	0	0	1	0	0	0	13577	1435	50	4	6192	4	RP1	8	55542624	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	17853654	55542624	90821398	71	43405											
SLC30A8	169026	genome.wustl.edu	37	chr8	118175721	118175721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttttccatcctggtcttgGccagcaccatcactatctta	7	15	5	14	0	4	0	1	0	3	0	6	0	6	0	4	2	1	1	4	2	2	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr8:118175721G>T	ENST00000456015.2	+	6	781	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S	SLC30A8_ENST00000519688.1_Missense_Mutation_p.A212S|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A212S|RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000427715.2_Missense_Mutation_p.A212S	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	261					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCTGGTCTTGGCCAGCACCAT	0.398																																					Ovarian(162;1202 1922 6011 16223 52092)												0													152	150	150					8																	118175721		2203	4300	6503	SO:0001583	missense	0				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.781G>T	8.37:g.118175721G>T	ENSP00000415011:p.Ala261Ser		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A261S	ENST00000456015.2	37	c.781	CCDS6322.1	8	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996887	0.35226	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.95	3.15	0.36227	.	0.547959	0.19987	N	0.101645	T	0.52208	0.1720	L	0.35414	1.06	0.32173	N	0.581382	P	0.35139	0.486	B	0.43082	0.407	T	0.55554	-0.8123	10	0.22109	T	0.4	-1.1141	7.5413	0.27740	0.2725:0.0:0.7275:0.0	.	261	Q8IWU4	ZNT8_HUMAN	S	212;212;212;261	ENSP00000428545:A212S;ENSP00000407505:A212S;ENSP00000431069:A212S;ENSP00000415011:A261S	ENSP00000407505:A212S	A	+	1	0	SLC30A8	118244902	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	2.385000	0.44371	0.759000	0.33084	0.655000	0.94253	GCC	SLC30A8	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000164756		0.398	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A8	HGNC	protein_coding	OTTHUMT00000381205.1		0	57	0	G	NM_173851		118175721	1			no_errors	ENST00000456015	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.998	T	T	118175721	G	T	118175721	3	4	173	1	0	0	0	0	1	0	0	0	14606	1203	42	3	803	3	SLC30A8	8	118175721	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	62633097	118175721	28188301	72	43406											
FAM135B	51059	genome.wustl.edu	37	chr8	139144986	139144986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggattaaagtgcagtcCttggcttcaaccagagggcc	9	10	12	10	1	1	1	1	0	0	1	3	2	2	2	3	3	2	2	3	3	3	3	rs201744533		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr8:139144986C>A	ENST00000395297.1	-	20	4241	c.4071G>T	c.(4069-4071)aaG>aaT	p.K1357N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1357								p.K1357N(2)		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)			AAGTGCAGTCCTTGGCTTCAA	0.537										HNSCC(54;0.14)																																							2	Substitution - Missense(2)	large_intestine(2)											235	243	240					8																	139144986		1982	4163	6145	SO:0001583	missense	0			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.4071G>T	8.37:g.139144986C>A	ENSP00000378710:p.Lys1357Asn		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.K1357N	ENST00000395297.1	37	c.4071	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778329	0.70107	.	.	ENSG00000147724	ENST00000395297	T	0.17691	2.26	5.74	3.0	0.34707	.	0.056757	0.64402	D	0.000002	T	0.30355	0.0762	L	0.48986	1.54	0.43255	D	0.995188	D	0.76494	0.999	D	0.66084	0.941	T	0.00768	-1.1574	10	0.52906	T	0.07	-29.2977	9.8146	0.40844	0.0:0.7147:0.0:0.2853	.	1357	Q49AJ0	F135B_HUMAN	N	1357	ENSP00000378710:K1357N	ENSP00000378710:K1357N	K	-	3	2	FAM135B	139214168	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.396000	0.34531	0.370000	0.24538	0.655000	0.94253	AAG	FAM135B	-	NULL	ENSG00000147724		0.537	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3		0	32	0	C	NM_015912		139144986	-1			no_errors	ENST00000395297	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	A	A	139144986	C	A	139144986	3	1	173	1	0	0	0	0	1	0	0	0	5468	680	24	3	153	3	FAM135B	8	139144986	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	20969265	139144986	7219036	73	43407											
FAM135B	51059	genome.wustl.edu	37	chr8	139165152	139165152	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgtcccagcatcagatgtTtggccagtccaacattcatc	10	12	7	12	0	2	1	2	0	0	1	5	1	4	1	3	1	2	2	3	1	2	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr8:139165152T>A	ENST00000395297.1	-	13	1736	c.1566A>T	c.(1564-1566)caA>caT	p.Q522H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	522										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)			CATCAGATGTTTGGCCAGTCC	0.458										HNSCC(54;0.14)																																							0													125	118	120					8																	139165152		1949	4149	6098	SO:0001583	missense	0			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.1566A>T	8.37:g.139165152T>A	ENSP00000378710:p.Gln522His		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.Q522H	ENST00000395297.1	37	c.1566	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675410	0.67928	.	.	ENSG00000147724	ENST00000395297	T	0.14766	2.48	5.18	-9.54	0.00572	.	1.236530	0.05499	N	0.558011	T	0.14830	0.0358	L	0.51422	1.61	0.09310	N	1	D;P;P	0.54207	0.965;0.924;0.79	P;P;B	0.53313	0.723;0.66;0.365	T	0.25779	-1.0122	10	0.27785	T	0.31	-1.9715	4.5868	0.12285	0.0976:0.4064:0.0999:0.396	.	522;522;522	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	H	522	ENSP00000378710:Q522H	ENSP00000276737:Q522H	Q	-	3	2	FAM135B	139234334	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	-0.444000	0.06854	-1.379000	0.02118	-0.290000	0.09829	CAA	FAM135B	-	NULL	ENSG00000147724		0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3		0	43	0	T	NM_015912		139165152	-1			no_errors	ENST00000395297	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	A	A	139165152	T	A	139165152	3	1	173	1	0	0	0	0	1	0	0	0	5468	1838	64	5	2686	5	FAM135B	8	139165152	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	20166	139165152	7198870	74	43408											
FAM135B	51059	genome.wustl.edu	37	chr8	139380163	139380163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttaccctctctgaaagaGatccacattataaaatttat	15	14	3	9	0	1	2	0	1	1	1	3	3	2	2	2	0	2	0	2	0	7	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr8:139380163G>T	ENST00000395297.1	-	2	234	c.64C>A	c.(64-66)Ctc>Atc	p.L22I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	22										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)			CTCTGAAAGAGATCCACATTA	0.393										HNSCC(54;0.14)																																							0													135	129	131					8																	139380163		1870	4111	5981	SO:0001583	missense	0			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.64C>A	8.37:g.139380163G>T	ENSP00000378710:p.Leu22Ile		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.L22I	ENST00000395297.1	37	c.64	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634046	0.87660	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.49720	0.77	5.54	5.54	0.83059	.	0.000000	0.48767	U	0.000163	T	0.70081	0.3183	M	0.75777	2.31	0.52501	D	0.999951	D	0.76494	0.999	D	0.80764	0.994	T	0.72450	-0.4290	10	0.87932	D	0	-5.5976	18.3941	0.90493	0.0:0.0:1.0:0.0	.	22	Q49AJ0	F135B_HUMAN	I	22	ENSP00000378710:L22I	ENSP00000160713:L22I	L	-	1	0	FAM135B	139449345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.084000	0.94076	2.768000	0.95171	0.561000	0.74099	CTC	FAM135B	-	NULL	ENSG00000147724		0.393	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3		0	24	0	G	NM_015912		139380163	-1			no_errors	ENST00000395297	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	139380163	G	T	139380163	3	4	173	1	0	0	0	0	1	0	0	0	5468	942	33	3	4232	3	FAM135B	8	139380163	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	215011	139380163	6983859	75	43409											
COL22A1	169044	genome.wustl.edu	37	chr8	139768056	139768056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtacaccaggtggccccGcaggtcccacgtcaccctgc	6	6	11	18	2	1	0	1	0	0	0	2	0	2	0	5	4	2	2	5	4	1	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr8:139768056G>T	ENST00000303045.6	-	19	2365	c.1919C>A	c.(1918-1920)gCg>gAg	p.A640E	COL22A1_ENST00000435777.1_Missense_Mutation_p.A640E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	640	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)			AGGTGGCCCCGCAGGTCCCAC	0.552										HNSCC(7;0.00092)																																							0													156	120	132					8																	139768056		2203	4300	6503	SO:0001583	missense	0			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.1919C>A	8.37:g.139768056G>T	ENSP00000303153:p.Ala640Glu		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.A640E	ENST00000303045.6	37	c.1919	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	0.317	-0.964400	0.02249	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93712	-3.27;-3.22	4.83	3.05	0.35203	.	0.628927	0.12878	U	0.431695	D	0.88306	0.6401	L	0.45470	1.425	0.09310	N	1	P	0.38827	0.649	B	0.34418	0.182	T	0.78471	-0.2191	10	0.38643	T	0.18	.	6.9299	0.24435	0.205:0.0:0.795:0.0	.	640	Q8NFW1	COMA1_HUMAN	E	640;640;353	ENSP00000303153:A640E;ENSP00000387655:A640E	ENSP00000303153:A640E	A	-	2	0	COL22A1	139837238	0.007000	0.16637	0.196000	0.23383	0.022000	0.10575	0.825000	0.27393	0.645000	0.30675	-0.339000	0.08088	GCG	COL22A1	-	NULL	ENSG00000169436		0.552	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2		0	32	0	G	XM_291257		139768056	-1			no_errors	ENST00000303045	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.027	T	T	139768056	G	T	139768056	3	4	173	1	0	0	0	0	1	0	0	0	3688	1087	38	2	3149	2	COL22A1	8	139768056	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	387893	139768056	6595966	76	43410											
FREM1	158326	genome.wustl.edu	37	chr9	14806713	14806713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagaagggagtatattttCgaggtagccaaactgaggag	14	8	13	6	1	0	2	0	1	0	1	1	5	0	4	1	3	2	2	1	3	5	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr9:14806713C>T	ENST00000380880.3	-	18	4003	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K	FREM1_ENST00000380881.4_Missense_Mutation_p.E1075K|FREM1_ENST00000422223.2_Missense_Mutation_p.E1074K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1074					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTATATTTTCGAGGTAGCCA	0.428																																																	0													51	52	52					9																	14806713		1985	4156	6141	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3220G>A	9.37:g.14806713C>T	ENSP00000370262:p.Glu1074Lys		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.E1075K	ENST00000380880.3	37	c.3223	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039568	0.93630	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.79845	-1.31;-1.31;-1.31	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.93122	0.7810	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93878	0.7168	10	0.62326	D	0.03	-23.2411	20.2182	0.98305	0.0:1.0:0.0:0.0	.	1074	Q5H8C1	FREM1_HUMAN	K	1075;1074;1074	ENSP00000370263:E1075K;ENSP00000412940:E1074K;ENSP00000370262:E1074K	ENSP00000370257:E1077K	E	-	1	0	FREM1	14796713	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.398000	0.79919	2.785000	0.95823	0.655000	0.94253	GAA	FREM1	-	NULL	ENSG00000164946		0.428	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	-	0	49	0	C	NM_144966		14806713	-1	tier1	-	no_errors	ENST00000380881	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	14806713	C	T	14806713	3	4	173	1	0	0	0	0	1	0	0	0	6068	893	31	1	3449	1	FREM1	9	14806713	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09		14806713	126406718	77	43411											
C9orf93	203238	genome.wustl.edu	37	chr9	15578911	15578911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaagggagaagcattgcGacaaagtctggaatatgacc	16	7	12	6	1	1	3	0	2	1	1	1	6	1	4	1	2	2	1	1	2	6	2	rs371347398		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr9:15578911G>T	ENST00000380701.3	+	4	570	c.242G>T	c.(241-243)cGa>cTa	p.R81L	CCDC171_ENST00000297641.3_Missense_Mutation_p.R81L|CCDC171_ENST00000535968.1_Missense_Mutation_p.R81L	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	81																	GAAGCATTGCGACAAAGTCTG	0.468																																																	0													109	103	105					9																	15578911		2203	4300	6503	SO:0001583	missense	0			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.242G>T	9.37:g.15578911G>T	ENSP00000370077:p.Arg81Leu		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.R81L	ENST00000380701.3	37	c.242	CCDS6481.1	9	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581551	0.86748	.	.	ENSG00000164989	ENST00000535968;ENST00000297641;ENST00000380701	T;T;T	0.60424	0.19;0.19;0.19	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.68091	0.2963	L	0.34521	1.04	0.41623	D	0.988972	D;D;D;P	0.89917	1.0;1.0;1.0;0.943	D;D;D;P	0.85130	0.997;0.997;0.997;0.547	T	0.71062	-0.4701	10	0.62326	D	0.03	-7.8279	17.71	0.88319	0.0:0.0:1.0:0.0	.	81;81;81;81	B7ZM22;Q6TFL3-3;Q6TFL3;Q7Z3F8	.;.;CI093_HUMAN;.	L	81	ENSP00000438838:R81L;ENSP00000297641:R81L;ENSP00000370077:R81L	ENSP00000297641:R81L	R	+	2	0	C9orf93	15568911	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.902000	0.63266	2.477000	0.83638	0.455000	0.32223	CGA	CCDC171	-	NULL	ENSG00000164989		0.468	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4		0	36	0	G	NM_173550		15578911	1			no_errors	ENST00000380701	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	15578911	G	T	15578911	3	4	173	1	0	0	0	0	1	0	0	0	2513	1058	37	2	252	2	C9orf93	9	15578911	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	772198	15578911	125634520	78	43412											
TOPORS	10210	genome.wustl.edu	37	chr9	32543771	32543771	+	Missense_Mutation	SNP	T	T	A	0	1	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	aattaataatatcttgttctTgaattttccgcaaagatctt	13	18	4	6	1	3	2	0	1	3	1	4	2	4	2	1	0	0	2	1	0	6	9			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr9:32543771T>A	ENST00000360538.2	-	3	868	c.752A>T	c.(751-753)cAa>cTa	p.Q251L	TOPORS_ENST00000379858.1_Missense_Mutation_p.Q186L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	251	Required for DNA-binding.				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)		ATCTTGTTCTTGAATTTTCCG	0.388																																																	0													96	102	100					9																	32543771		2203	4300	6503	SO:0001583	missense	0			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.752A>T	9.37:g.32543771T>A	ENSP00000353735:p.Gln251Leu		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q251L	ENST00000360538.2	37	c.752	CCDS6527.1	9	.	.	.	.	.	.	.	.	.	.	T	12.77	2.038695	0.35989	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15718	2.4;2.4	5.93	5.93	0.95920	.	0.000000	0.48767	D	0.000173	T	0.35422	0.0931	L	0.50333	1.59	0.37700	D	0.92418	D	0.89917	1.0	D	0.66084	0.941	T	0.19614	-1.0300	10	0.59425	D	0.04	-19.16	15.3592	0.74457	0.0:0.0:0.0:1.0	.	251	Q9NS56	TOPRS_HUMAN	L	251;186	ENSP00000353735:Q251L;ENSP00000369187:Q186L	ENSP00000353735:Q251L	Q	-	2	0	TOPORS	32533771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.982000	0.49337	2.263000	0.75096	0.533000	0.62120	CAA	TOPORS	-	NULL	ENSG00000197579		0.388	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOPORS	HGNC	protein_coding	OTTHUMT00000052007.1	-	0	34	0	T	NM_005802		32543771	-1	tier1	-	no_errors	ENST00000360538	ensembl	human	known	74_37	missense	57.14	9	12	SNP	1.000	A	A	32543771	T	A	32543771	3	1	173	1	0	0	0	0	1	0	0	0	16418	1812	63	5	2389	5	TOPORS	9	32543771	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	16964860	32543771	108669660	79	43413											
KIAA1539	80256	genome.wustl.edu	37	chr9	35106621	35106621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcctggccccttccGgaggcttcgaagggggctcc	5	6	15	15	2	0	0	0	0	0	0	3	2	2	1	5	6	1	3	5	6	1	2	rs373199885	byFrequency	TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr9:35106621G>A	ENST00000378561.1	-	4	4028	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	FAM214B_ENST00000603301.1_Missense_Mutation_p.R325W|FAM214B_ENST00000378566.1_Missense_Mutation_p.R20W|FAM214B_ENST00000488109.2_Missense_Mutation_p.R325W|FAM214B_ENST00000322813.5_Missense_Mutation_p.R325W|FAM214B_ENST00000378554.2_Missense_Mutation_p.R325W|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378557.1_Missense_Mutation_p.R325W|FAM214B_ENST00000605244.1_Missense_Mutation_p.R325W			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	325						nucleus (GO:0005634)											GGCCCCTTCCGGAGGCTTCGA	0.627													G|||	5	0.000998403	0.0038	0	5008	,	,		16749	0		0	False		,,,				2504	0																0								G	TRP/ARG	1,4335		0,1,2167	8	10	10		973	5.4	1	9		10	0,8490		0,0,4245	no	missense	KIAA1539	NM_025182.2	101	0,1,6412	AA,AG,GG		0.0,0.0231,0.0078	probably-damaging	325/539	35106621	1,12825	2168	4245	6413	SO:0001583	missense	0			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.973C>T	9.37:g.35106621G>A	ENSP00000367823:p.Arg325Trp		B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	NULL	p.R325W	ENST00000378561.1	37	c.973	CCDS6578.1	9	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678139	0.68042	2.31E-4	0.0	ENSG00000005238	ENST00000378566;ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	5.37	5.37	0.77165	.	0.126735	0.53938	D	0.000044	T	0.48624	0.1510	L	0.42245	1.32	0.46798	D	0.999203	D	0.60575	0.988	B	0.42386	0.386	T	0.55289	-0.8164	9	0.72032	D	0.01	-21.604	16.6599	0.85238	0.0:0.0:1.0:0.0	.	325	Q7L5A3	K1539_HUMAN	W	20;325;325;325;325	.	ENSP00000319897:R325W	R	-	1	2	KIAA1539	35096621	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.221000	0.51215	2.808000	0.96608	0.650000	0.86243	CGG	FAM214B	-	NULL	ENSG00000005238		0.627	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1	-	0	82	0	G	NM_025182		35106621	-1	tier1	-	no_errors	ENST00000322813	ensembl	human	known	74_37	missense	44.78	37	30	SNP	1.000	A	A	35106621	G	A	35106621	3	1	173	1	0	0	0	0	1	0	0	0	8269	1115	39	1	663	1	KIAA1539	9	35106621	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	2562850	35106621	106106810	80	43414											
NPR2	4882	genome.wustl.edu	37	chr9	35792937	35792937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgctcgcacagatgacCggcctcactacttcaccatc	9	9	8	15	2	2	2	2	1	0	1	4	3	2	3	3	2	2	2	3	2	1	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr9:35792937C>T	ENST00000342694.2	+	1	787	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	178					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)	CACAGATGACCGGCCTCACTA	0.612																																																	0													100	90	93					9																	35792937		2203	4300	6503	SO:0001583	missense	0			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.532C>T	9.37:g.35792937C>T	ENSP00000341083:p.Arg178Trp		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.R178W	ENST00000342694.2	37	c.532	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377793	0.82682	.	.	ENSG00000159899	ENST00000342694	T	0.75821	-0.97	4.14	4.14	0.48551	Extracellular ligand-binding receptor (1);	0.000000	0.41194	D	0.000931	D	0.86594	0.5970	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.98	D	0.88639	0.3174	10	0.66056	D	0.02	.	14.0862	0.64957	0.0:1.0:0.0:0.0	.	178;178	P20594-2;P20594	.;ANPRB_HUMAN	W	178	ENSP00000341083:R178W	ENSP00000341083:R178W	R	+	1	2	NPR2	35782937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.524000	0.53495	2.291000	0.77112	0.462000	0.41574	CGG	NPR2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000159899		0.612	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	HGNC	protein_coding	OTTHUMT00000052345.1	-	0	27	0	C			35792937	1	tier1	-	no_errors	ENST00000342694	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	35792937	C	T	35792937	3	4	173	1	0	0	0	0	1	0	0	0	10634	643	23	1	534	1	NPR2	9	35792937	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	686316	35792937	105420494	81	43415											
FAM108B1	51104	genome.wustl.edu	37	chr9	74489614	74489614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaactggcaccatatccaGaataatcatatgagaatata	17	9	7	8	1	1	2	1	1	0	2	2	4	2	3	2	2	1	1	2	2	8	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr9:74489614G>T	ENST00000333421.6	-	2	494	c.383C>A	c.(382-384)tCt>tAt	p.S128Y	ABHD17B_ENST00000377041.2_Missense_Mutation_p.S128Y	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	128						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										ACCATATCCAGAATAATCATA	0.413																																																	0													85	85	85					9																	74489614		2203	4300	6503	SO:0001583	missense	0			AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.383C>A	9.37:g.74489614G>T	ENSP00000330222:p.Ser128Tyr		A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Dienelactn_hydro	p.S128Y	ENST00000333421.6	37	c.383	CCDS35043.1	9	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675301	0.88445	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.42900	0.96;0.96	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.81839	-0.0748	10	0.87932	D	0	-14.981	20.5827	0.99408	0.0:0.0:1.0:0.0	.	128;128	Q5VST6;Q5VST6-2	F108B_HUMAN;.	Y	128	ENSP00000366240:S128Y;ENSP00000330222:S128Y	ENSP00000330222:S128Y	S	-	2	0	FAM108B1	73679434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	TCT	ABHD17B	-	NULL	ENSG00000107362		0.413	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABHD17B	HGNC	protein_coding	OTTHUMT00000052625.1	-	0	33	0	G	NM_016014		74489614	-1	tier1	-	no_errors	ENST00000377041	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	74489614	G	T	74489614	3	4	173	1	0	0	0	0	1	0	0	0	5411	942	33	3	526	3	FAM108B1	9	74489614	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	38696677	74489614	66723817	82	43416											
FLJ46321	389763	genome.wustl.edu	37	chr9	84608684	84608684	+	Missense_Mutation	SNP	T	T	C	0	1	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	acacagcatcgtagacgaagTcagtcagaaacagactgtac	16	6	9	10	2	2	3	2	0	0	3	3	4	2	3	0	0	3	3	0	0	4	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr9:84608684T>C	ENST00000344803.2	+	4	3346	c.3299T>C	c.(3298-3300)gTc>gCc	p.V1100A		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1100					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTAGACGAAGTCAGTCAGAAA	0.502																																																	0													53	54	53					9																	84608684		1948	4149	6097	SO:0001583	missense	0				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.3299T>C	9.37:g.84608684T>C	ENSP00000341988:p.Val1100Ala			Missense_Mutation	SNP	NULL	p.V1100A	ENST00000344803.2	37	c.3299	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	T	0.138	-1.105884	0.01828	.	.	ENSG00000214929	ENST00000344803	T	0.05513	3.43	2.86	-4.35	0.03656	.	.	.	.	.	T	0.02267	0.0070	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.46005	-0.9222	9	0.06365	T	0.9	0.908	0.8553	0.01181	0.1663:0.2476:0.1644:0.4218	.	1100	Q6ZQQ2	F75D1_HUMAN	A	1100	ENSP00000341988:V1100A	ENSP00000341988:V1100A	V	+	2	0	FAM75D1	83798504	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.690000	0.00831	-1.014000	0.03379	-0.522000	0.04353	GTC	SPATA31D1	-	NULL	ENSG00000214929		0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	74	0	T	NM_001001670		84608684	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	C	C	84608684	T	C	84608684	3	2	173	1	0	0	0	0	1	0	0	0	5954	1667	58	4	3313	4	FLJ46321	9	84608684	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	10119070	84608684	56604747	83	43417											
HEMGN	55363	genome.wustl.edu	37	chr9	100692787	100692787	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttgtattttaggaaaaAggccttctgtctcagctatt	9	18	7	7	0	3	0	1	0	3	0	4	1	3	1	1	2	1	2	1	2	5	8			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr9:100692787A>G	ENST00000259456.3	-	4	1033	c.890T>C	c.(889-891)cTt>cCt	p.L297P		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	297					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)				TTTAGGAAAAAGGCCTTCTGT	0.388																																																	0													285	269	274					9																	100692787		2203	4300	6503	SO:0001583	missense	0			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.890T>C	9.37:g.100692787A>G	ENSP00000259456:p.Leu297Pro		Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	NULL	p.L297P	ENST00000259456.3	37	c.890	CCDS6731.1	9	.	.	.	.	.	.	.	.	.	.	A	8.614	0.889842	0.17540	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.26	1.37	0.22104	.	1.063840	0.07237	N	0.863593	T	0.23846	0.0577	L	0.29908	0.895	0.09310	N	1	P	0.37276	0.589	B	0.37047	0.24	T	0.18681	-1.0329	9	0.33940	T	0.23	0.5906	2.3189	0.04206	0.6015:0.1595:0.0859:0.1532	.	297	Q9BXL5	HEMGN_HUMAN	P	297	.	ENSP00000259456:L297P	L	-	2	0	HEMGN	99732608	0.000000	0.05858	0.002000	0.10522	0.367000	0.29736	-0.236000	0.09003	0.042000	0.15717	0.459000	0.35465	CTT	HEMGN	-	NULL	ENSG00000136929		0.388	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEMGN	HGNC	protein_coding	OTTHUMT00000053344.2		0	36	0	A	NM_197978		100692787	-1			no_errors	ENST00000259456	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.004	G	G	100692787	A	G	100692787	3	3	173	1	0	0	0	0	1	0	0	0	7077	72	3	4	572	4	HEMGN	9	100692787	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	16084103	100692787	40520644	84	43418											
PRPF4	9128	genome.wustl.edu	37	chr9	116038865	116038865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgacgacttagttgctcCggtcgtgaagaaaccacaca	12	7	9	13	4	0	2	0	1	0	1	2	4	1	2	3	1	2	2	3	1	3	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr9:116038865C>T	ENST00000374198.4	+	2	170	c.68C>T	c.(67-69)cCg>cTg	p.P23L	CDC26_ENST00000374206.3_5'Flank|PRPF4_ENST00000374199.4_Missense_Mutation_p.P22L|CDC26_ENST00000490408.1_5'Flank	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	23					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						TTAGTTGCTCCGGTCGTGAAG	0.453																																																	0													107	110	109					9																	116038865		2203	4300	6503	SO:0001583	missense	0			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.68C>T	9.37:g.116038865C>T	ENSP00000363313:p.Pro23Leu		O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P23L	ENST00000374198.4	37	c.68	CCDS6791.1	9	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301290	0.40694	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.62364	0.03;0.08	5.97	5.07	0.68467	.	0.238181	0.42548	D	0.000682	T	0.48926	0.1527	L	0.52573	1.65	0.80722	D	1	P;P	0.50710	0.938;0.861	B;B	0.32465	0.146;0.101	T	0.51764	-0.8664	10	0.11794	T	0.64	.	16.0517	0.80769	0.0:0.8656:0.1344:0.0	.	38;23	Q59EL4;O43172	.;PRP4_HUMAN	L	22;23	ENSP00000363315:P22L;ENSP00000363313:P23L	ENSP00000363313:P23L	P	+	2	0	PRPF4	115078686	1.000000	0.71417	0.626000	0.29213	0.543000	0.35085	6.931000	0.75863	1.522000	0.49001	0.561000	0.74099	CCG	PRPF4	-	NULL	ENSG00000136875		0.453	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRPF4	HGNC	protein_coding	OTTHUMT00000053708.2	-	0	47	0	C	NM_004697		116038865	1	tier1	-	no_errors	ENST00000374198	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.995	T	T	116038865	C	T	116038865	3	4	173	1	0	0	0	0	1	0	0	0	12612	652	23	1	74	1	PRPF4	9	116038865	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	15346078	116038865	25174566	85	43419											
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123173662	123173662	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctttaatgagcattgcaTtgagggcctggttctgcttc	7	15	10	9	0	1	2	0	2	1	0	3	2	2	2	2	2	3	4	2	2	1	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr9:123173662T>C	ENST00000349780.4	-	29	4567	c.4388A>G	c.(4387-4389)aAt>aGt	p.N1463S	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.N1422S|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.N1431S|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.N1463S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1463					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						GAGCATTGCATTGAGGGCCTG	0.423																																																	0													154	146	148					9																	123173662		2203	4300	6503	SO:0001583	missense	0			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.4388A>G	9.37:g.123173662T>C	ENSP00000343818:p.Asn1463Ser		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.N1463S	ENST00000349780.4	37	c.4388	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285521	0.40394	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.54	4.18	0.49190	.	0.190443	0.36482	N	0.002564	T	0.19927	0.0479	N	0.25426	0.745	0.26717	N	0.970857	B;B;B;B;B;B	0.31193	0.041;0.312;0.141;0.204;0.208;0.019	B;B;B;B;B;B	0.29524	0.011;0.103;0.067;0.046;0.048;0.011	T	0.12734	-1.0536	10	0.45353	T	0.12	.	8.1812	0.31311	0.0:0.1193:0.0:0.8807	.	473;1232;1431;1463;1463;857	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	S	1431;1422;1463;1463;857;473;1235	ENSP00000354065:N1431S;ENSP00000352258:N1422S;ENSP00000343818:N1463S;ENSP00000353317:N1463S;ENSP00000400395:N857S;ENSP00000409941:N473S	ENSP00000341695:N1235S	N	-	2	0	CDK5RAP2	122213483	1.000000	0.71417	0.663000	0.29738	0.824000	0.46624	5.170000	0.64990	0.729000	0.32403	0.459000	0.35465	AAT	CDK5RAP2	-	NULL	ENSG00000136861		0.423	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	-	0	43	0	T	NM_018249		123173662	-1	tier1	-	no_errors	ENST00000349780	ensembl	human	known	74_37	missense	70.00	12	28	SNP	0.970	C	C	123173662	T	C	123173662	3	2	173	1	0	0	0	0	1	0	0	0	3153	1493	52	4	1333	4	CDK5RAP2	9	123173662	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	7134797	123173662	18039769	86	43420											
ITGB1	3688	genome.wustl.edu	37	chr10	33209186	33209186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacatacctcatctccaatgGaaatattggaacattttctt	14	14	4	9	0	3	0	1	0	2	0	4	2	3	2	2	2	3	0	2	2	6	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr10:33209186G>A	ENST00000396033.2	-	10	1391	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	ITGB1_ENST00000374956.4_Missense_Mutation_p.S419F|ITGB1_ENST00000302278.3_Missense_Mutation_p.S419F|ITGB1_ENST00000423113.1_Missense_Mutation_p.S419F	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	419					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)	ATCTCCAATGGAAATATTGGA	0.323																																																	0													122	105	111					10																	33209186		2203	4300	6503	SO:0001583	missense	0			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.1256C>T	10.37:g.33209186G>A	ENSP00000379350:p.Ser419Phe		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.S419F	ENST00000396033.2	37	c.1256	CCDS7174.1	10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975935	0.74360	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.19	5.19	0.71726	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.82116	0.4967	M	0.86028	2.79	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.996;0.953;0.994	D	0.85276	0.1059	10	0.87932	D	0	.	18.7147	0.91671	0.0:0.0:1.0:0.0	.	419;419;419;419;419	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	F	419	ENSP00000379350:S419F;ENSP00000388694:S419F;ENSP00000303351:S419F;ENSP00000364094:S419F	ENSP00000303351:S419F	S	-	2	0	ITGB1	33249192	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.830000	0.86741	2.427000	0.82271	0.467000	0.42956	TCC	ITGB1	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000150093		0.323	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB1	HGNC	protein_coding	OTTHUMT00000047496.1	-	0	35	0	G	NM_002211		33209186	-1	tier1	-	no_errors	ENST00000374956	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	A	A	33209186	G	A	33209186	3	1	173	1	0	0	0	0	1	0	0	0	7917	1174	41	3	1406	3	ITGB1	10	33209186	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		33209186	102325561	87	43421											
ZNF365	22891	genome.wustl.edu	37	chr10	64219517	64219517	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cagagctggaaaggtgctggCgaagctcgcctggtgtgcca	8	7	16	10	2	0	1	0	0	0	1	1	3	0	2	2	4	4	3	2	4	2	0			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr10:64219517C>T	ENST00000410046.3	+	4	1222	c.942C>T	c.(940-942)ggC>ggT	p.G314G	ZNF365_ENST00000395255.3_Silent_p.G314G	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										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)					AAGGTGCTGGCGAAGCTCGCC	0.522																																																	0													55	44	48					10																	64219517		2203	4300	6503	SO:0001819	synonymous_variant	0			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	ENST00000410046.3:c.942C>T	10.37:g.64219517C>T				Silent	SNP	NULL	p.G314	ENST00000410046.3	37	c.942	CCDS7264.1	10																																																																																			ZNF365	-	NULL	ENSG00000138311		0.522	ZNF365-003	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000277038.1	-	0	48	0	C	NM_014951		64219517	1	tier1	-	no_errors	ENST00000410046	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.000	T	T	64219517	C	T	64219517	2	4	173	1	0	0	0	0	0	0	0	1	17917	755	27	1		1	ZNF365	10	64219517	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	31010331	64219517	71315230	88	43422											
VDAC2	7417	genome.wustl.edu	37	chr10	76978897	76978897	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggagaccaaatacaagtggtGtgagtatggtctgactttca	12	11	12	6	0	2	3	1	2	1	1	2	4	2	3	1	3	1	1	1	3	4	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr10:76978897G>T	ENST00000332211.6	+	5	440	c.227G>T	c.(226-228)tGt>tTt	p.C76F	VDAC2_ENST00000535553.1_Missense_Mutation_p.C37F|VDAC2_ENST00000543351.1_Missense_Mutation_p.C76F|VDAC2_ENST00000313132.4_Missense_Mutation_p.C91F|VDAC2_ENST00000472137.1_3'UTR	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	76					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TACAAGTGGTGTGAGTATGGT	0.378																																																	0													107	103	104					10																	76978897		2203	4300	6503	SO:0001583	missense	0			BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"Voltage-dependent anion channels"	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.227G>T	10.37:g.76978897G>T	ENSP00000361686:p.Cys76Phe		Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	pfam_Porin_Euk/Tom40,prints_Porin_Euk	p.C91F	ENST00000332211.6	37	c.272	CCDS7348.1	10	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456919	0.43634	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000535553;ENST00000313132;ENST00000447677;ENST00000413289	T;T;T;T;T;T;T	0.43294	1.0;1.0;0.99;1.0;0.99;1.0;0.95	5.43	5.43	0.79202	.	0.364709	0.31301	N	0.007900	T	0.35941	0.0949	L	0.38175	1.15	0.38083	D	0.936735	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.002;0.001;0.0	T	0.22103	-1.0226	10	0.52906	T	0.07	.	15.1278	0.72497	0.0:0.1825:0.8175:0.0	.	37;91;76	B4DKM5;P45880-1;P45880	.;.;VDAC2_HUMAN	F	76;76;76;76;37;91;76;91	ENSP00000298468:C76F;ENSP00000443092:C76F;ENSP00000344876:C76F;ENSP00000361686:C76F;ENSP00000361635:C91F;ENSP00000401492:C76F;ENSP00000389551:C91F	ENSP00000298468:C76F	C	+	2	0	VDAC2	76648903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.639000	0.67868	2.543000	0.85770	0.655000	0.94253	TGT	VDAC2	-	pfam_Porin_Euk/Tom40	ENSG00000165637		0.378	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC2	HGNC	protein_coding	OTTHUMT00000048792.1	-	0	57	0	G	NM_003375		76978897	1	tier1	-	no_errors	ENST00000313132	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	76978897	G	T	76978897	3	4	173	1	0	0	0	0	1	0	0	0	17196	1377	48	3	321	3	VDAC2	10	76978897	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	12759380	76978897	58555850	89	43423											
BTAF1	9044	genome.wustl.edu	37	chr10	93719887	93719887	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggtggtctgctgggaatAaaatatgctttggcagtccg	9	12	13	7	1	1	0	0	0	1	0	2	1	2	1	1	4	2	3	1	4	4	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr10:93719887A>G	ENST00000265990.6	+	11	1547	c.1239A>G	c.(1237-1239)atA>atG	p.I413M	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	413					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGCTGGGAATAAAATATGCTT	0.373																																																	0													162	163	163					10																	93719887		2203	4300	6503	SO:0001583	missense	0			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1239A>G	10.37:g.93719887A>G	ENSP00000265990:p.Ile413Met		B4E0W6|O43578	Missense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I413M	ENST00000265990.6	37	c.1239	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814684	0.70912	.	.	ENSG00000095564	ENST00000265990	T	0.68903	-0.36	5.12	3.95	0.45737	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	L	0.60904	1.88	0.80722	D	1	D	0.67145	0.996	D	0.63877	0.919	T	0.75147	-0.3420	10	0.59425	D	0.04	0.8094	11.117	0.48266	0.8614:0.0:0.0:0.1386	.	413	O14981	BTAF1_HUMAN	M	413	ENSP00000265990:I413M	ENSP00000265990:I413M	I	+	3	3	BTAF1	93709867	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.606000	0.46291	0.748000	0.32831	0.477000	0.44152	ATA	BTAF1	-	superfamily_ARM-type_fold	ENSG00000095564		0.373	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	-	0	41	0	A	NM_003972		93719887	1	tier1	-	no_errors	ENST00000265990	ensembl	human	known	74_37	missense	39.47	23	15	SNP	1.000	G	G	93719887	A	G	93719887	3	3	173	1	0	0	0	0	1	0	0	0	1540	352	13	4	1281	4	BTAF1	10	93719887	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	16740990	93719887	41814860	90	43424											
TLL2	7093	genome.wustl.edu	37	chr10	98136519	98136519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggctggggtatttgtcaGgccagttggggctcgccagg	4	10	17	10	2	1	0	1	0	0	0	3	0	2	0	3	7	0	4	3	7	1	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr10:98136519G>T	ENST00000357947.3	-	18	2603	c.2378C>A	c.(2377-2379)cCt>cAt	p.P793H		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	793	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTATTTGTCAGGCCAGTTGGG	0.537																																																	0													76	76	76					10																	98136519		2203	4300	6503	SO:0001583	missense	0			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2378C>A	10.37:g.98136519G>T	ENSP00000350630:p.Pro793His		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom	p.P793H	ENST00000357947.3	37	c.2378	CCDS7449.1	10	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032162	0.93575	.	.	ENSG00000095587	ENST00000357947	T	0.66099	-0.19	4.98	4.98	0.66077	CUB (5);	0.000000	0.45361	D	0.000366	D	0.89065	0.6609	H	0.99689	4.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93764	0.7069	10	0.87932	D	0	.	17.7923	0.88558	0.0:0.0:1.0:0.0	.	793	Q9Y6L7	TLL2_HUMAN	H	793	ENSP00000350630:P793H	ENSP00000350630:P793H	P	-	2	0	TLL2	98126509	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.601000	0.98297	2.746000	0.94184	0.655000	0.94253	CCT	TLL2	-	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000095587		0.537	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1		0	82	0	G			98136519	-1			no_errors	ENST00000357947	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	98136519	G	T	98136519	3	4	173	1	0	0	0	0	1	0	0	0	15993	1000	35	3	685	3	TLL2	10	98136519	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	4416632	98136519	37398228	91	43425											
ZFYVE27	118813	genome.wustl.edu	37	chr10	99511159	99511159	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccaggacctcacaccGggcagcgtggaggaggctga	8	6	14	13	2	2	1	1	1	1	0	3	4	3	4	3	5	1	2	3	5	0	1	rs561011837		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr10:99511159G>T	ENST00000393677.4	+	8	1020	c.816G>T	c.(814-816)ccG>ccT	p.P272P	ZFYVE27_ENST00000356257.4_Silent_p.P277P|ZFYVE27_ENST00000370613.3_Silent_p.P154P|ZFYVE27_ENST00000337540.7_Silent_p.P240P|ZFYVE27_ENST00000453958.2_Silent_p.P272P|ZFYVE27_ENST00000370610.3_Silent_p.P179P|ZFYVE27_ENST00000359980.3_Silent_p.P272P|ZFYVE27_ENST00000357540.4_Silent_p.P186P	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	272					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		ACCTCACACCGGGCAGCGTGG	0.597																																																	0													106	88	94					10																	99511159		2203	4300	6503	SO:0001819	synonymous_variant	0			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.816G>T	10.37:g.99511159G>T			B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.P277	ENST00000393677.4	37	c.831	CCDS31263.1	10																																																																																			ZFYVE27	-	NULL	ENSG00000155256		0.597	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	ZFYVE27	HGNC	protein_coding	OTTHUMT00000049745.2		0	51	0	G	NM_144588		99511159	1			no_errors	ENST00000356257	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.709	T	T	99511159	G	T	99511159	2	4	173	1	0	0	0	0	0	0	0	1	17717	1103	39	2		2	ZFYVE27	10	99511159	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	1374640	99511159	36023588	92	43426											
C10orf28	27291	genome.wustl.edu	37	chr10	100003861	100003861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacagagagaaagcggttGgaagccaagcaacgggaaga	16	5	14	6	2	0	3	0	0	0	3	0	6	0	5	1	3	5	2	1	3	6	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr10:100003861G>T	ENST00000298999.3	+	10	2586	c.2283G>T	c.(2281-2283)ttG>ttT	p.L761F	R3HCC1L_ENST00000370586.2_Missense_Mutation_p.L167F|R3HCC1L_ENST00000314594.5_Missense_Mutation_p.L177F|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.L761F	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	775							nucleotide binding (GO:0000166)										GAAAGCGGTTGGAAGCCAAGC	0.393																																																	0													121	111	114					10																	100003861		2203	4300	6503	SO:0001583	missense	0			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.2283G>T	10.37:g.100003861G>T	ENSP00000298999:p.Leu761Phe		O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	NULL	p.L761F	ENST00000298999.3	37	c.2283	CCDS31267.1	10	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931520	0.73442	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	T;T;T;T	0.35048	2.97;2.97;1.34;1.33	5.98	3.87	0.44632	.	0.078755	0.52532	D	0.000076	T	0.39963	0.1098	L	0.27053	0.805	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.22208	-1.0223	9	.	.	.	-2.5503	5.2886	0.15716	0.1905:0.0:0.6531:0.1564	.	167;775;761	Q7Z5L2-3;Q7Z5L2;Q7Z5L2-2	.;GIDRP_HUMAN;.	F	761;761;167;177;168	ENSP00000359616:L761F;ENSP00000298999:L761F;ENSP00000359618:L167F;ENSP00000314018:L177F	.	L	+	3	2	C10orf28	99993851	1.000000	0.71417	0.964000	0.40570	0.993000	0.82548	1.697000	0.37784	0.644000	0.30656	0.563000	0.77884	TTG	R3HCC1L	-	NULL	ENSG00000166024		0.393	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	R3HCC1L	HGNC	protein_coding	OTTHUMT00000049764.1		0	55	0	G	NM_014472		100003861	1			no_errors	ENST00000370584	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.997	T	T	100003861	G	T	100003861	3	4	173	1	0	0	0	0	1	0	0	0	1606	1339	47	3	2305	3	C10orf28	10	100003861	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	492702	100003861	35530886	93	43427											
C10orf76	79591	genome.wustl.edu	37	chr10	103771512	103771512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagagaaaaaaccactttGgtgttcttcttccttgtctt	10	15	7	9	0	3	1	0	0	3	1	4	2	4	1	2	1	2	2	2	1	3	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr10:103771512G>T	ENST00000370033.4	-	11	918	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	267						integral component of membrane (GO:0016021)		p.Q267K(1)		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)		AAACCACTTTGGTGTTCTTCT	0.343																																																	1	Substitution - Missense(1)	endometrium(1)											125	124	124					10																	103771512		1823	4079	5902	SO:0001583	missense	0			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.799C>A	10.37:g.103771512G>T	ENSP00000359050:p.Gln267Lys		Q2TB87|Q9H8Z9	Missense_Mutation	SNP	pfam_DUF1741,superfamily_ARM-type_fold	p.Q267K	ENST00000370033.4	37	c.799	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258640	0.59321	.	.	ENSG00000120029	ENST00000370033	T	0.65364	-0.15	6.17	6.17	0.99709	.	0.051755	0.85682	D	0.000000	T	0.56202	0.1969	L	0.46157	1.445	0.80722	D	1	B	0.26258	0.145	B	0.24974	0.057	T	0.54456	-0.8291	10	0.06494	T	0.89	-12.8406	20.8794	0.99867	0.0:0.0:1.0:0.0	.	267	Q5T2E6	CJ076_HUMAN	K	267	ENSP00000359050:Q267K	ENSP00000359050:Q267K	Q	-	1	0	C10orf76	103761502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.097000	0.89539	2.941000	0.99782	0.655000	0.94253	CAA	C10orf76	-	superfamily_ARM-type_fold	ENSG00000120029		0.343	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	HGNC	protein_coding	OTTHUMT00000050007.1		0	36	0	G	NM_024541		103771512	-1			no_errors	ENST00000370033	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	103771512	G	T	103771512	3	4	173	1	0	0	0	0	1	0	0	0	1621	1357	47	3	1334	3	C10orf76	10	103771512	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	3767651	103771512	31763235	94	43428											
SORCS1	114815	genome.wustl.edu	37	chr10	108412176	108412176	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagagtgacgttgtgtccTtgttccgctgtcagctttcc	5	15	11	10	2	1	2	1	2	0	1	4	3	4	2	3	0	1	4	3	0	0	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr10:108412176T>A	ENST00000263054.6	-	18	2446	c.2439A>T	c.(2437-2439)caA>caT	p.Q813H	SORCS1_ENST00000344440.6_Missense_Mutation_p.Q813H|SORCS1_ENST00000369698.1_Missense_Mutation_p.Q348H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	813	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)			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)		CGTTGTGTCCTTGTTCCGCTG	0.527																																																	0													133	117	123					10																	108412176		2203	4300	6503	SO:0001583	missense	0			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.2439A>T	10.37:g.108412176T>A	ENSP00000263054:p.Gln813His		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.Q813H	ENST00000263054.6	37	c.2439	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533593	0.45073	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.61980	0.06;0.06;0.06	5.56	0.544	0.17185	PKD/Chitinase domain (1);PKD domain (3);	0.077784	0.53938	D	0.000045	T	0.65322	0.2680	L	0.44542	1.39	0.38769	D	0.954511	D;D;D;D;D	0.61697	0.99;0.978;0.987;0.99;0.987	D;P;P;D;P	0.63033	0.91;0.854;0.854;0.91;0.854	T	0.63042	-0.6725	9	.	.	.	-12.9534	10.5463	0.45062	0.0:0.4226:0.0:0.5774	.	813;813;813;813;813	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	H	348;813;813	ENSP00000358712:Q348H;ENSP00000263054:Q813H;ENSP00000345964:Q813H	.	Q	-	3	2	SORCS1	108402166	0.988000	0.35896	0.965000	0.40720	0.638000	0.38207	0.197000	0.17197	0.062000	0.16340	0.533000	0.62120	CAA	SORCS1	-	pfam_PKD_dom,superfamily_PKD_dom	ENSG00000108018		0.527	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4		0	68	0	T	NM_052918		108412176	-1			no_errors	ENST00000344440	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.997	A	A	108412176	T	A	108412176	3	1	173	1	0	0	0	0	1	0	0	0	14975	1606	56	5	1337	5	SORCS1	10	108412176	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	4640664	108412176	27122571	95	43429											
SMC3	9126	genome.wustl.edu	37	chr10	112362581	112362581	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcataatatgtttatttttAggtgtcatttacaggaaaac	13	17	6	5	0	2	0	2	0	0	0	2	1	2	1	0	2	2	1	0	2	7	9			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr10:112362581A>T	ENST00000361804.4	+	27	3423		c.e27-1			NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3						DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTTTATTTTTAGGTGTCATTT	0.363																																																	1	Unknown(1)	NS(1)											69	75	73					10																	112362581		2203	4299	6502	SO:0001630	splice_region_variant	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.3298-1A>T	10.37:g.112362581A>T			A8K156|O60464|Q5T482	Splice_Site	SNP	-	e27-2	ENST00000361804.4	37	c.3298-2	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474881	0.43942	.	.	ENSG00000108055	ENST00000361804	.	.	.	5.87	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9217	0.52795	0.7238:0.2762:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMC3	112352571	1.000000	0.71417	0.971000	0.41717	0.826000	0.46750	7.129000	0.77225	1.014000	0.39417	0.482000	0.46254	.	SMC3	-	-	ENSG00000108055		0.363	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	HGNC	protein_coding	OTTHUMT00000050337.1		0	37	0	A	NM_005445	Intron	112362581	1			no_errors	ENST00000361804	ensembl	human	known	74_37	splice_site	8.33	33	3	SNP	0.998	T	T	112362581	A	T	112362581	5	4	173	1	0	0	0	0	0	0	1	0	14829	434	15	5	3402	5	SMC3	10	112362581	Splice_Site	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	3950405	112362581	23172166	96	43430											
GPAM	57678	genome.wustl.edu	37	chr10	113913356	113913356	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctagaagtttttgtcggttGcattgaggtagaaaagtgct	10	15	12	4	1	1	3	0	1	1	2	2	3	1	3	0	2	2	5	0	2	5	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr10:113913356G>A	ENST00000348367.4	-	22	2636	c.2439C>T	c.(2437-2439)tgC>tgT	p.C813C	GPAM_ENST00000423155.1_Silent_p.C813C			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	813					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)		TTTGTCGGTTGCATTGAGGTA	0.388																																					Ovarian(161;1017 2606 18293 52943)												0													122	127	125					10																	113913356		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2439C>T	10.37:g.113913356G>A			Q5VW51|Q86TA3	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.C813	ENST00000348367.4	37	c.2439	CCDS7570.1	10																																																																																			GPAM	-	NULL	ENSG00000119927		0.388	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAM	HGNC	protein_coding	OTTHUMT00000050377.1	-	0	21	0	G	NM_020918		113913356	-1	tier1	-	no_errors	ENST00000348367	ensembl	human	known	74_37	silent	18.75	13	3	SNP	0.999	A	A	113913356	G	A	113913356	2	1	173	1	0	0	0	0	0	0	0	1	6614	1311	46	3		3	GPAM	10	113913356	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	1550775	113913356	21621391	97	43431											
ATRNL1	26033	genome.wustl.edu	37	chr10	116975491	116975491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttccagaaactaaaggagCtattgtacaaggtggatatg	14	11	11	5	0	0	1	0	0	0	1	1	3	1	3	1	3	3	3	1	3	7	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr10:116975491C>T	ENST00000355044.3	+	9	1511	c.1385C>T	c.(1384-1386)gCt>gTt	p.A462V		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	462					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)		ACTAAAGGAGCTATTGTACAA	0.308																																																	0													101	88	92					10																	116975491		2203	4300	6503	SO:0001583	missense	0			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.1385C>T	10.37:g.116975491C>T	ENSP00000347152:p.Ala462Val		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A462V	ENST00000355044.3	37	c.1385	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462230	0.84425	.	.	ENSG00000107518	ENST00000355044	T	0.66815	-0.23	5.33	4.4	0.53042	Kelch-type beta propeller (1);	0.102442	0.64402	N	0.000003	T	0.78898	0.4356	M	0.73217	2.22	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.76107	-0.3080	10	0.18710	T	0.47	-3.5196	15.7393	0.77876	0.0:0.863:0.137:0.0	.	462	Q5VV63	ATRN1_HUMAN	V	462	ENSP00000347152:A462V	ENSP00000347152:A462V	A	+	2	0	ATRNL1	116965481	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.312000	0.59154	1.199000	0.43173	0.536000	0.68110	GCT	ATRNL1	-	NULL	ENSG00000107518		0.308	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0	47	0	C	XM_049349		116975491	1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	missense	9.09	39	4	SNP	1.000	T	T	116975491	C	T	116975491	3	4	173	1	0	0	0	0	1	0	0	0	1208	797	28	3	1419	3	ATRNL1	10	116975491	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	3062135	116975491	18559256	98	43432											
OR51E2	81285	genome.wustl.edu	37	chr11	4703783	4703783	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtacatcggagcgtgcagGctgcgttccgtccttacgat	7	10	13	11	5	0	0	0	0	0	0	3	2	2	1	2	3	5	4	2	3	2	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr11:4703783G>A	ENST00000396950.3	-	2	398	c.159C>T	c.(157-159)agC>agT	p.S53S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	53					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGCGTGCAGGCTGCGTTCCG	0.512																																																	0													118	99	105					11																	4703783		2201	4298	6499	SO:0001819	synonymous_variant	0			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.159C>T	11.37:g.4703783G>A			B2RA63|Q6IF94	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S53	ENST00000396950.3	37	c.159	CCDS7751.1	11																																																																																			OR51E2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167332		0.512	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E2	HGNC	protein_coding	OTTHUMT00000257198.1	-	0	65	0	G	NM_030774		4703783	-1	tier1	-	no_errors	ENST00000396950	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.974	A	A	4703783	G	A	4703783	2	1	173	1	0	0	0	0	0	0	0	1	11134	1194	42	3		3	OR51E2	11	4703783	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		4703783	130302733	99	43433											
OR5I1	10798	genome.wustl.edu	37	chr11	55703513	55703513	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggcgacatagcgatcatAggccatggcggccaggatga	11	6	15	9	3	1	1	1	1	0	0	1	5	1	2	2	5	1	0	2	5	2	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr11:55703513A>G	ENST00000301532.3	-	1	363	c.364T>C	c.(364-366)Tat>Cat	p.Y122H		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	122					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGCGATCATAGGCCATGGCG	0.443																																																	0													61	63	62					11																	55703513		2201	4292	6493	SO:0001583	missense	0			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.364T>C	11.37:g.55703513A>G	ENSP00000301532:p.Tyr122His		Q6IEU4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y122H	ENST00000301532.3	37	c.364	CCDS7949.1	11	.	.	.	.	.	.	.	.	.	.	A	13.30	2.194964	0.38806	.	.	ENSG00000167825	ENST00000301532	T	0.00487	7.05	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.165039	0.28989	N	0.013490	T	0.00998	0.0033	M	0.87328	2.875	0.25742	N	0.985155	D	0.53885	0.963	P	0.48425	0.577	T	0.33343	-0.9872	10	0.87932	D	0	.	12.8531	0.57869	1.0:0.0:0.0:0.0	.	122	Q13606	OR5I1_HUMAN	H	122	ENSP00000301532:Y122H	ENSP00000301532:Y122H	Y	-	1	0	OR5I1	55460089	0.250000	0.23951	0.029000	0.17559	0.066000	0.16364	4.565000	0.60836	1.970000	0.57323	0.519000	0.50382	TAT	OR5I1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000167825		0.443	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1		0	29	0	A	NM_006637		55703513	-1			no_errors	ENST00000301532	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.638	G	G	55703513	A	G	55703513	3	3	173	1	0	0	0	0	1	0	0	0	11203	420	15	4	583	4	OR5I1	11	55703513	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	50999730	55703513	79303003	100	43434											
OR5AP2	338675	genome.wustl.edu	37	chr11	56409727	56409727	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgagaaagaaatacatgggGgtgtggagacagagatcaat	16	7	14	4	0	1	4	1	1	0	4	1	7	1	4	0	3	1	0	0	3	4	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr11:56409727G>C	ENST00000302981.1	-	1	188	c.189C>G	c.(187-189)acC>acG	p.T63T	OR5AP2_ENST00000544374.1_Silent_p.T64T	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AATACATGGGGGTGTGGAGAC	0.433																																																	0													82	77	79					11																	56409727		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.189C>G	11.37:g.56409727G>C			B2RNM8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T64	ENST00000302981.1	37	c.192	CCDS31534.1	11																																																																																			OR5AP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172464		0.433	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OR5AP2	HGNC	protein_coding	OTTHUMT00000391613.1	-	0	21	0	G	NM_001002925		56409727	-1	tier1	-	no_errors	ENST00000544374	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.001	C	C	56409727	G	C	56409727	2	2	173	1	0	0	0	0	0	0	0	1	11183	1219	43	5		5	OR5AP2	11	56409727	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	706214	56409727	78596789	101	43435											
DDB1	1642	genome.wustl.edu	37	chr11	61091537	61091537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaagcagcatgaagagccGgccttccatgtctcccagca	12	6	9	14	1	1	2	0	1	1	1	3	2	2	2	4	1	4	3	4	1	3	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr11:61091537G>A	ENST00000301764.7	-	7	1232	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	279	Interaction with CDT1.|WD repeat beta-propeller A.				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						ATGAAGAGCCGGCCTTCCATG	0.507								Nucleotide excision repair (NER)																																									0													185	181	182					11																	61091537		2203	4299	6502	SO:0001583	missense	0			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.835C>T	11.37:g.61091537G>A	ENSP00000301764:p.Arg279Trp		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R279W	ENST00000301764.7	37	c.835	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133056	0.77662	.	.	ENSG00000167986	ENST00000301764;ENST00000535174;ENST00000541513	T;T;T	0.44881	0.91;0.91;0.91	5.72	3.85	0.44370	.	0.050474	0.85682	D	0.000000	T	0.65974	0.2743	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.98;0.988;0.981	T	0.71303	-0.4633	10	0.72032	D	0.01	-19.0615	15.2508	0.73545	0.0:0.0:0.7435:0.2565	.	279;279;279	F5GY55;B7Z2A1;Q16531	.;.;DDB1_HUMAN	W	279;62;94	ENSP00000301764:R279W;ENSP00000446044:R62W;ENSP00000442660:R94W	ENSP00000301764:R279W	R	-	1	2	DDB1	60848113	1.000000	0.71417	0.842000	0.33263	0.846000	0.48090	4.785000	0.62418	0.768000	0.33290	-0.152000	0.13540	CGG	DDB1	-	NULL	ENSG00000167986		0.507	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	-	0	30	0	G	NM_001923		61091537	-1	tier1	-	no_errors	ENST00000301764	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.996	A	A	61091537	G	A	61091537	3	1	173	1	0	0	0	0	1	0	0	0	4332	1115	39	1	2671	1	DDB1	11	61091537	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	4681810	61091537	73914979	102	43436											
C11orf82	220042	genome.wustl.edu	37	chr11	82643985	82643985	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagaatattttttaccGaatccttacctgtcagctct	10	16	5	10	1	3	1	2	0	1	1	4	2	4	1	3	0	3	1	3	0	5	5	rs139413374		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr11:82643985G>T	ENST00000533655.1	+	6	1817	c.1605G>T	c.(1603-1605)ccG>ccT	p.P535P	C11orf82_ENST00000329143.3_Silent_p.P234P|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.P535P	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		535					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATTTTTTACCGAATCCTTACC	0.373																																																	0													31	30	30					11																	82643985		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000533655.1:c.1605G>T	11.37:g.82643985G>T			Q96LK6|Q9H856	Silent	SNP	pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold	p.P535	ENST00000533655.1	37	c.1605	CCDS8263.1	11																																																																																			C11orf82	-	NULL	ENSG00000165490		0.373	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf82	HGNC	protein_coding	OTTHUMT00000391936.1		0	38	0	G			82643985	1			no_errors	ENST00000430323	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.001	T	T	82643985	G	T	82643985	2	4	173	1	0	0	0	0	0	0	0	1	1670	1045	37	2		2	C11orf82	11	82643985	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	21552448	82643985	52362531	103	43437											
NPAT	4863	genome.wustl.edu	37	chr11	108044483	108044483	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	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	aaaattttcctggtcttcttGtctaagcacatcatggttgt	9	17	7	8	0	4	0	1	0	3	0	5	0	5	0	1	2	1	2	1	2	3	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr11:108044483G>A	ENST00000278612.8	-	13	1333	c.1228C>T	c.(1228-1230)Caa>Taa	p.Q410*	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	410					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q410E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGTCTTCTTGTCTAAGCACA	0.403																																																	1	Substitution - Missense(1)	ovary(1)											135	122	126					11																	108044483		1861	4099	5960	SO:0001587	stop_gained	0			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1228C>T	11.37:g.108044483G>A	ENSP00000278612:p.Gln410*		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Nonsense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.Q410*	ENST00000278612.8	37	c.1228	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465525	0.43839	.	.	ENSG00000149308	ENST00000278612	.	.	.	5.54	5.54	0.83059	.	0.640477	0.15914	N	0.238480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-0.1733	12.4896	0.55893	0.0:0.0:0.8223:0.1777	.	.	.	.	X	410	.	ENSP00000278612:Q410X	Q	-	1	0	NPAT	107549693	0.374000	0.25081	0.083000	0.20561	0.287000	0.27160	3.113000	0.50376	2.765000	0.95021	0.557000	0.71058	CAA	NPAT	-	NULL	ENSG00000149308		0.403	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2		0	63	0	G	NM_002519		108044483	-1			no_errors	ENST00000278612	ensembl	human	known	74_37	nonsense	5.66	50	3	SNP	0.015	A	A	108044483	G	A	108044483	4	1	173	1	0	0	0	0	0	1	0	0	10605	1386	48	3	3079	3	NPAT	11	108044483	Nonsense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	25400498	108044483	26962033	104	43438											
SDHD	6392	genome.wustl.edu	37	chr11	111965683	111965683	+	Missense_Mutation	SNP	T	T	C	0	1	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	gcaaagctgttgccatgctgTggaagctctgacctttttga	8	13	11	9	0	1	2	0	2	1	0	1	3	1	3	2	1	4	5	2	1	2	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr11:111965683T>C	ENST00000375549.3	+	4	604	c.469T>C	c.(469-471)Tgg>Cgg	p.W157R	SDHD_ENST00000528048.1_3'UTR|SDHD_ENST00000525291.1_Missense_Mutation_p.W118R|SDHD_ENST00000528182.1_3'UTR|SDHD_ENST00000528021.1_Intron|SDHD_ENST00000526592.1_3'UTR|SDHD_ENST00000532699.1_Intron	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	157					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	TGCCATGCTGTGGAAGCTCTG	0.433			"Mis, N, F, S"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	11	11q23	6392	"succinate dehydrogenase complex, subunit D, integral membrane protein"		O	0													32	30	31					11																	111965683		2134	4119	6253	SO:0001583	missense	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"Mitochondrial respiratory chain complex / Complex II"	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.469T>C	11.37:g.111965683T>C	ENSP00000364699:p.Trp157Arg		A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Missense_Mutation	SNP	pfam_CybS	p.W157R	ENST00000375549.3	37	c.469	CCDS31678.1	11	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193916	0.78902	.	.	ENSG00000204370	ENST00000375549;ENST00000525291	D;D	0.99454	-5.92;-5.92	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97919	1.0313	10	0.87932	D	0	-12.6744	14.4137	0.67135	0.0:0.0:0.0:1.0	.	157	O14521	DHSD_HUMAN	R	157;118	ENSP00000364699:W157R;ENSP00000436669:W118R	ENSP00000364699:W157R	W	+	1	0	SDHD	111470893	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.548000	0.82154	2.005000	0.58758	0.482000	0.46254	TGG	SDHD	-	pfam_CybS	ENSG00000204370		0.433	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHD	HGNC	protein_coding	OTTHUMT00000392351.1	-	0	192	0	T	NM_003002		111965683	1	tier1	-	no_errors	ENST00000375549	ensembl	human	known	74_37	missense	8.11	136	12	SNP	1.000	C	C	111965683	T	C	111965683	3	2	173	1	0	0	0	0	1	0	0	0	14012	1696	59	4	483	4	SDHD	11	111965683	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	3921200	111965683	23040833	105	43439											
PCSK7	9159	genome.wustl.edu	37	chr11	117089269	117089269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgtaggatgctaagtaagGgacagatgtccagatctatg	13	9	13	6	1	1	2	0	0	1	2	2	5	2	4	1	2	1	3	1	2	4	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr11:117089269G>T	ENST00000320934.3	-	12	2077	c.1447C>A	c.(1447-1449)Cct>Act	p.P483T	PCSK7_ENST00000540028.1_Missense_Mutation_p.P124T	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	483					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)		GCTAAGTAAGGGACAGATGTC	0.478			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													99	90	93					11																	117089269		2201	4296	6497	SO:0001583	missense	0			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.1447C>A	11.37:g.117089269G>T	ENSP00000325917:p.Pro483Thr		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.P483T	ENST00000320934.3	37	c.1447	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396129	0.83011	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.67171	-0.25;-0.25	5.01	5.01	0.66863	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	M	0.75264	2.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.72338	0.977	D	0.83661	0.0161	10	0.87932	D	0	-11.8319	17.0563	0.86534	0.0:0.0:1.0:0.0	.	483	Q16549	PCSK7_HUMAN	T	483;124;483	ENSP00000325917:P483T;ENSP00000441944:P124T	ENSP00000325917:P483T	P	-	1	0	PCSK7	116594479	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.864000	0.75494	2.606000	0.88127	0.655000	0.94253	CCT	PCSK7	-	superfamily_Galactose-bd-like	ENSG00000160613		0.478	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	-	0	38	0	G	NM_004716		117089269	-1	tier1	-	no_errors	ENST00000320934	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T	T	117089269	G	T	117089269	3	4	173	1	0	0	0	0	1	0	0	0	11644	1232	43	3	934	3	PCSK7	11	117089269	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	5123586	117089269	17917247	106	43440											
PRDM10	56980	genome.wustl.edu	37	chr11	129827734	129827734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgccgtgtacaccacctgCtgtggggggcgaacctggtc	5	9	14	13	2	1	0	0	0	1	0	2	1	1	0	4	4	4	2	4	4	2	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr11:129827734C>A	ENST00000360871.3	-	3	372	c.141G>T	c.(139-141)caG>caT	p.Q47H	PRDM10_ENST00000358825.5_Missense_Mutation_p.Q47H|PRDM10_ENST00000528746.1_Missense_Mutation_p.Q47H	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	47					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACACCACCTGCTGTGGGGGGC	0.547																																																	0													249	220	230					11																	129827734		2201	4297	6498	SO:0001583	missense	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.141G>T	11.37:g.129827734C>A	ENSP00000354118:p.Gln47His		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q47H	ENST00000360871.3	37	c.141	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652077	0.88056	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	T;T;T;T;T	0.59224	2.4;2.44;2.34;0.28;0.41	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	L	0.32530	0.975	0.80722	D	1	P;D;D	0.71674	0.83;0.998;0.996	P;D;D	0.80764	0.667;0.994;0.986	T	0.68368	-0.5427	10	0.87932	D	0	-19.7126	14.1642	0.65466	0.0:0.9286:0.0:0.0714	.	47;47;47	Q9NQV6-4;G3XAE5;Q9NQV6	.;.;PRD10_HUMAN	H	47	ENSP00000351686:Q47H;ENSP00000354118:Q47H;ENSP00000431262:Q47H;ENSP00000432093:Q47H;ENSP00000436681:Q47H	ENSP00000351686:Q47H	Q	-	3	2	PRDM10	129332944	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.805000	0.55575	2.728000	0.93425	0.655000	0.94253	CAG	PRDM10	-	NULL	ENSG00000170325		0.547	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1		0	35	0	C	NM_199437		129827734	-1			no_errors	ENST00000358825	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	129827734	C	A	129827734	3	1	173	1	0	0	0	0	1	0	0	0	12493	796	28	3	3457	3	PRDM10	11	129827734	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	12738465	129827734	5178782	107	43441											
PTPN6	5777	genome.wustl.edu	37	chr12	7064025	7064025	+	Silent	SNP	C	C	T	0	0	0	1	1	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	acgctgctgcaggccaagggCgagccctggacgtttcttgt	6	9	14	12	3	1	0	0	0	1	0	1	2	1	1	2	3	3	4	2	3	1	2	rs377246131		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr12:7064025C>T	ENST00000318974.9	+	4	628	c.384C>T	c.(382-384)ggC>ggT	p.G128G	PTPN6_ENST00000399448.1_Silent_p.G130G|PTPN6_ENST00000456013.1_Silent_p.G128G|PTPN6_ENST00000447931.2_Silent_p.G89G	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	128	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						AGGCCAAGGGCGAGCCCTGGA	0.642													C|||	6	0.00119808	0	0	5008	,	,		-128	0		0	False		,,,				2504	0.0061																0								C	,,	1,4269		0,1,2134	46	52	50		384,390,384	-10.1	0.7	12		50	2,8500		0,2,4249	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPN6	NM_002831.5,NM_080548.4,NM_080549.3	,,	0,3,6383	TT,TC,CC		0.0235,0.0234,0.0235	,,	128/596,130/598,128/625	7064025	3,12769	2135	4251	6386	SO:0001819	synonymous_variant	0				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.384C>T	12.37:g.7064025C>T			A8K306|G3V0F8|Q969V8|Q9UK67	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2	p.G128	ENST00000318974.9	37	c.384	CCDS44820.1	12																																																																																			PTPN6	-	pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2	ENSG00000111679		0.642	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN6	HGNC	protein_coding	OTTHUMT00000400023.1	-	0	56	0	C	NM_002831		7064025	1	tier1	-	no_errors	ENST00000456013	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.027	T	T	7064025	C	T	7064025	2	4	173	1	0	0	0	0	0	0	0	1	12837	755	27	1		1	PTPN6	12	7064025	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09		7064025	126787870	108	43442											
KCNJ8	3764	genome.wustl.edu	37	chr12	21918742	21918742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaattgttccttcggataGaattgttcctcctcatggaa	11	14	8	8	1	1	2	1	0	0	2	5	4	4	4	3	2	0	2	3	2	5	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr12:21918742G>T	ENST00000240662.2	-	3	1535	c.1190C>A	c.(1189-1191)tCt>tAt	p.S397Y	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	397					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CCTTCGGATAGAATTGTTCCT	0.418																																																	0													149	144	146					12																	21918742		2203	4300	6503	SO:0001583	missense	0			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.1190C>A	12.37:g.21918742G>T	ENSP00000240662:p.Ser397Tyr		O00657	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	p.S397Y	ENST00000240662.2	37	c.1190	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457861	0.43634	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	T	0.79352	-1.26	5.86	5.86	0.93980	.	0.353219	0.32719	N	0.005738	T	0.65249	0.2673	N	0.08118	0	0.53688	D	0.999972	P	0.50943	0.94	B	0.41571	0.36	T	0.73260	-0.4039	10	0.72032	D	0.01	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	397	Q15842	IRK8_HUMAN	Y	397	ENSP00000240662:S397Y	ENSP00000240662:S397Y	S	-	2	0	KCNJ8	21810009	1.000000	0.71417	0.969000	0.41365	0.813000	0.45954	4.879000	0.63100	2.776000	0.95493	0.655000	0.94253	TCT	KCNJ8	-	pirsf_K_chnl_inward-rec_Kir	ENSG00000121361		0.418	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1		0	45	0	G	NM_004982		21918742	-1			no_errors	ENST00000240662	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	T	T	21918742	G	T	21918742	3	4	173	1	0	0	0	0	1	0	0	0	8083	942	33	3	88	3	KCNJ8	12	21918742	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	14854717	21918742	111933153	109	43443											
OVCH1	341350	genome.wustl.edu	37	chr12	29627998	29627998	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtttatactcacctgaGggcaaaatggtaaatctggc	14	11	9	7	0	2	1	1	1	1	0	2	1	2	1	1	3	1	3	1	3	7	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr12:29627998G>T	ENST00000318184.5	-	14	1595	c.1596C>A	c.(1594-1596)ccC>ccA	p.P532P	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	532						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)					ACTCACCTGAGGGCAAAATGG	0.338																																																	0													58	54	55					12																	29627998		1849	4085	5934	SO:0001819	synonymous_variant	0			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.1596C>A	12.37:g.29627998G>T				Silent	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P532	ENST00000318184.5	37	c.1596		12																																																																																			OVCH1	-	superfamily_CUB_dom	ENSG00000187950		0.338	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	-	0	54	0	G	NM_183378		29627998	-1	tier1	-	no_errors	ENST00000318184	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.001	T	T	29627998	G	T	29627998	2	4	173	1	0	0	0	0	0	0	0	1	11362	987	35	3		3	OVCH1	12	29627998	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	7709256	29627998	104223897	110	43444											
ALG10	84920	genome.wustl.edu	37	chr12	34175557	34175558	+	Frame_Shift_Ins	INS	-	-	T																															gcgcagctggaaggttactaINStttctcggccgccttgagct																										TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr12:34175557_34175558insT	ENST00000266483.2	+	1	342_343	c.23_24insT	c.(22-27)tatttcfs	p.YF8fs	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Frame_Shift_Ins_p.YF8fs	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	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)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GAAGGTTACTATTTCTCGGCCG	0.564																																																	0																																										SO:0001589	frameshift_variant	0			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"derepression of ITR1 expression 2 homolog (S. cerevisiae)", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"	603313	"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)", "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.26dupT	12.37:g.34175560_34175560dupT	ENSP00000266483:p.Tyr8fs		Q6NS98|Q96DU0|Q96SM6	Frame_Shift_Ins	INS	pfam_Alg10,pirsf_Alg10	p.S10fs	ENST00000266483.2	37	c.23_24	CCDS41769.1	12																																																																																			ALG10	-	pirsf_Alg10	ENSG00000139133		0.564	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10	HGNC	protein_coding	OTTHUMT00000403309.1		0	104	0	-	NM_032834		34175558	1	tier1		no_errors	ENST00000266483	ensembl	human	known	74_37	frame_shift_ins	21.84	68	19	INS	0.993:0.983	T	T	34175558	-	T	34175557	7	5	173	1	0	1	1	0	0	0	0	0	511	449	16	0	25	0	ALG10	12	34175557	Frame_Shift_Ins	INS	-	TCGA-VR-AA4G-01A-11D-A37C-09	4547559	34175557	99676338	111	43445											
ITGA5	3678	genome.wustl.edu	37	chr12	54795803	54795803	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactggctcctgccttcatGgggttgcccaggtcacacac	7	9	10	15	0	2	0	2	0	0	0	3	0	3	0	3	4	2	2	3	4	0	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr12:54795803G>A	ENST00000293379.4	-	21	2469	c.2208C>T	c.(2206-2208)ccC>ccT	p.P736P	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)	736					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						CTGCCTTCATGGGGTTGCCCA	0.592																																																	0													61	57	58					12																	54795803		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2208C>T	12.37:g.54795803G>A			Q96HA5	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.P736	ENST00000293379.4	37	c.2208	CCDS8880.1	12																																																																																			ITGA5	-	pfam_Integrin_alpha-2	ENSG00000161638		0.592	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA5	HGNC	protein_coding	OTTHUMT00000406174.1	-	0	37	0	G			54795803	-1	tier1	-	no_errors	ENST00000293379	ensembl	human	known	74_37	silent	19.57	37	9	SNP	1.000	A	A	54795803	G	A	54795803	2	1	173	1	0	0	0	0	0	0	0	1	7906	1335	47	3		3	ITGA5	12	54795803	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	20620246	54795803	79056092	112	43446											
SHMT2	6472	genome.wustl.edu	37	chr12	57626051	57626051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagccacgtccatcttcttCgagtctatgccctataagct	8	13	6	14	2	4	0	1	0	3	0	6	1	5	0	3	0	3	1	3	0	3	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr12:57626051C>T	ENST00000328923.3	+	5	1022	c.570C>T	c.(568-570)ttC>ttT	p.F190F	SHMT2_ENST00000393827.4_Missense_Mutation_p.S85L|SHMT2_ENST00000414700.3_Silent_p.F169F|SHMT2_ENST00000553474.1_Silent_p.F169F|SHMT2_ENST00000449049.3_Silent_p.F169F|SHMT2_ENST00000557487.1_Silent_p.F190F|SHMT2_ENST00000554600.1_3'UTR	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	190					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)	p.F190F(1)		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)	CCATCTTCTTCGAGTCTATGC	0.587																																					Esophageal Squamous(150;1369 2416 49071 49364)												1	Substitution - coding silent(1)	large_intestine(1)											166	136	146					12																	57626051		2203	4300	6503	SO:0001819	synonymous_variant	0			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.570C>T	12.37:g.57626051C>T			B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	p.S85L	ENST00000328923.3	37	c.254	CCDS8934.1	12	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537921	0.65085	.	.	ENSG00000182199	ENST00000393827	T	0.30981	1.51	4.95	-9.0	0.00747	.	.	.	.	.	T	0.25644	0.0624	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10683	-1.0619	8	0.59425	D	0.04	-2.2021	19.8812	0.96900	0.0:0.1145:0.0:0.8855	.	85	B4DLV4	.	L	85	ENSP00000377413:S85L	ENSP00000377413:S85L	S	+	2	0	SHMT2	55912318	0.186000	0.23225	0.449000	0.26957	0.984000	0.73092	-0.473000	0.06615	-2.087000	0.00862	-0.793000	0.03317	TCG	SHMT2	-	pirsf_Ser_HO-MeTrfase	ENSG00000182199		0.587	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT2	HGNC	protein_coding	OTTHUMT00000412525.2		0	58	0	C	NM_005412		57626051	1			no_errors	ENST00000393827	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.973	T	T	57626051	C	T	57626051	2	4	173	1	0	0	0	0	0	0	0	1	14331	883	31	1		1	SHMT2	12	57626051	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	2830248	57626051	76225844	113	43447											
USP44	84101	genome.wustl.edu	37	chr12	95927822	95927822	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aacgtacatctcattcacctCcaatgcaacaggatgactgc	13	9	6	13	1	2	1	2	1	1	0	4	2	3	2	2	1	5	2	2	1	4	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr12:95927822C>G	ENST00000258499.3	-	2	499	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	USP44_ENST00000393091.2_Missense_Mutation_p.E71Q|USP44_ENST00000552440.1_Missense_Mutation_p.E71Q|USP44_ENST00000537435.2_Missense_Mutation_p.E71Q	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	71					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						TCATTCACCTCCAATGCAACA	0.418											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													152	134	140					12																	95927822		2203	4300	6503	SO:0001583	missense	0			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.211G>C	12.37:g.95927822C>G	ENSP00000258499:p.Glu71Gln	1316	B2RDW3	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.E71Q	ENST00000258499.3	37	c.211	CCDS9053.1	12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277254	0.80580	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435;ENST00000551837;ENST00000549639	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.27	5.27	0.74061	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.045693	0.85682	D	0.000000	T	0.57695	0.2071	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60255	-0.7299	10	0.72032	D	0.01	.	19.2436	0.93893	0.0:1.0:0.0:0.0	.	71	Q9H0E7	UBP44_HUMAN	Q	71	ENSP00000258499:E71Q;ENSP00000376806:E71Q;ENSP00000448670:E71Q;ENSP00000442629:E71Q;ENSP00000448601:E71Q;ENSP00000449635:E71Q	ENSP00000258499:E71Q	E	-	1	0	USP44	94451953	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	7.445000	0.80570	2.623000	0.88846	0.561000	0.74099	GAG	USP44	-	pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP	ENSG00000136014		0.418	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP44	HGNC	protein_coding	OTTHUMT00000408312.1		0	46	0	C	NM_032147		95927822	-1			no_errors	ENST00000258499	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	G	G	95927822	C	G	95927822	3	3	173	1	0	0	0	0	1	0	0	0	17124	864	30	5	1947	5	USP44	12	95927822	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	38301771	95927822	37924073	114	43448											
SLC41A2	84102	genome.wustl.edu	37	chr12	105199022	105199022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgagcagatcacccaatgCtgttaggtaggggatggaga	11	7	14	9	1	1	2	1	0	0	2	1	5	1	3	2	4	2	4	2	4	3	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr12:105199022C>T	ENST00000258538.3	-	10	1757	c.1630G>A	c.(1630-1632)Gca>Aca	p.A544T	SLC41A2_ENST00000549713.1_5'UTR	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	544					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TCACCCAATGCTGTTAGGTAG	0.448																																					Esophageal Squamous(195;176 2919 4272 35572)												0													206	211	209					12																	105199022		2203	4300	6503	SO:0001583	missense	0			BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"Solute carriers"	31045	protein-coding gene	gene with protein product		610802	"solute carrier family 41, member 2"				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.1630G>A	12.37:g.105199022C>T	ENSP00000258538:p.Ala544Thr		Q3KP68|Q9H0E5	Missense_Mutation	SNP	pfam_SLC41_membr_dom	p.A544T	ENST00000258538.3	37	c.1630	CCDS9100.2	12	.	.	.	.	.	.	.	.	.	.	C	35	5.442328	0.96187	.	.	ENSG00000136052	ENST00000258538	T	0.23552	1.9	6.07	6.07	0.98685	MgtE magnesium transporter, integral membrane (1);	0.000000	0.85682	D	0.000000	T	0.63522	0.2518	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64437	-0.6408	10	0.26408	T	0.33	0.8928	20.6525	0.99598	0.0:1.0:0.0:0.0	.	544	Q96JW4	S41A2_HUMAN	T	544	ENSP00000258538:A544T	ENSP00000258538:A544T	A	-	1	0	SLC41A2	103723152	1.000000	0.71417	0.335000	0.25508	0.809000	0.45718	5.830000	0.69324	2.890000	0.99128	0.585000	0.79938	GCA	SLC41A2	-	pfam_SLC41_membr_dom	ENSG00000136052		0.448	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A2	HGNC	protein_coding	OTTHUMT00000346850.3		0	47	0	C	NM_032148		105199022	-1			no_errors	ENST00000258538	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	105199022	C	T	105199022	3	4	173	1	0	0	0	0	1	0	0	0	14675	797	28	3	95	3	SLC41A2	12	105199022	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	9271200	105199022	28652873	115	43449											
UBC	7316	genome.wustl.edu	37	chr12	125396398	125396398	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggagggatgccttccttAtcttggatctttgccttgac	6	15	10	10	0	3	1	1	1	2	0	4	4	4	4	3	3	2	0	3	3	1	5	rs8023		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr12:125396398A>G	ENST00000538617.1	-	4	1096	c.780T>C	c.(778-780)gaT>gaC	p.D260D	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Silent_p.D640D|UBC_ENST00000536769.1_Silent_p.D640D|UBC_ENST00000546120.1_Silent_p.D564D			P0CG48	UBC_HUMAN	ubiquitin C	640	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)		TGCCTTCCTTATCTTGGATCT	0.512																																																	0													187	174	178					12																	125396398		2203	4300	6503	SO:0001819	synonymous_variant	0				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.780T>C	12.37:g.125396398A>G			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.D640	ENST00000538617.1	37	c.1920		12																																																																																			UBC	-	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.512	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400179.1	-	0	107	0	A	NM_021009		125396398	-1	tier1	rs8023	no_errors	ENST00000339647	ensembl	human	known	74_37	silent	20.75	84	22	SNP	1.000	G	G	125396398	A	G	125396398	2	3	173	1	0	0	0	0	0	0	0	1	16891	446	16	4		4	UBC	12	125396398	Silent	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	20197376	125396398	8455497	116	43450											
PAN3	255967	genome.wustl.edu	37	chr13	28750681	28750681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctaaatgacagtgccaagCcatattcagcccatggtaag	13	10	8	10	0	2	1	1	1	1	0	2	1	2	1	3	1	3	1	3	1	5	5	rs531555113		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr13:28750681C>T	ENST00000380958.3	+	3	756	c.604C>T	c.(604-606)Cca>Tca	p.P202S	PAN3_ENST00000399613.1_Missense_Mutation_p.P56S	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)		CAGTGCCAAGCCATATTCAGC	0.338													C|||	1	0.000199681	0	0	5008	,	,		18059	0		0.001	False		,,,				2504	0																0													126	122	123					13																	28750681		2203	4300	6503	SO:0001583	missense	0			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.604C>T	13.37:g.28750681C>T	ENSP00000370345:p.Pro202Ser			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom	p.P202S	ENST00000380958.3	37	c.604	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261045	0.39995	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.44083	0.93;0.96	5.49	4.64	0.57946	.	0.262372	0.45126	D	0.000389	T	0.28665	0.0710	N	0.19112	0.55	0.80722	D	1	B;B;B	0.25904	0.003;0.001;0.137	B;B;B	0.28709	0.005;0.001;0.093	T	0.06826	-1.0805	10	0.21014	T	0.42	-10.7371	13.697	0.62587	0.0:0.9259:0.0:0.0741	.	202;202;202	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	S	202;56	ENSP00000370345:P202S;ENSP00000382522:P56S	ENSP00000370345:P202S	P	+	1	0	PAN3	27648681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.433000	0.52834	2.584000	0.87258	0.655000	0.94253	CCA	PAN3	-	NULL	ENSG00000152520		0.338	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	-	0	65	0	C	NM_175854		28750681	1	tier1	-	no_errors	ENST00000380958	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	28750681	C	T	28750681	3	4	173	1	0	0	0	0	1	0	0	0	11454	739	26	3	614	3	PAN3	13	28750681	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09		28750681	86419197	117	43451											
NBEA	26960	genome.wustl.edu	37	chr13	36241657	36241657	+	Missense_Mutation	SNP	A	A	G	1	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	gagggcgattcagtaatttcAgcattaatgggaaacttttg	12	13	11	5	1	2	0	2	0	0	0	2	3	2	1	0	2	2	2	0	2	3	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr13:36241657A>G	ENST00000400445.3	+	56	9082	c.8548A>G	c.(8548-8550)Agc>Ggc	p.S2850G	NBEA_ENST00000310336.4_Missense_Mutation_p.S2850G|NBEA_ENST00000379922.3_Missense_Mutation_p.S428G|NBEA_ENST00000537702.1_Missense_Mutation_p.S643G|NBEA_ENST00000540320.1_Missense_Mutation_p.S2850G|NBEA_ENST00000379939.2_Missense_Mutation_p.S2847G	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2850					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)		CAGTAATTTCAGCATTAATGG	0.423																																																	0													189	184	185					13																	36241657		1879	4112	5991	SO:0001583	missense	0			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.8548A>G	13.37:g.36241657A>G	ENSP00000383295:p.Ser2850Gly		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.S2850G	ENST00000400445.3	37	c.8548	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	29.0	4.966952	0.92855	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.63843	1.955	0.80722	D	1	B;D;B	0.62365	0.402;0.991;0.402	B;P;B	0.61477	0.235;0.889;0.298	T	0.52419	-0.8578	10	0.66056	D	0.02	.	16.0173	0.80450	1.0:0.0:0.0:0.0	.	2850;428;2847	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	G	2850;2850;2847;2850;1479;428;643;428	ENSP00000440951:S2850G;ENSP00000383295:S2850G;ENSP00000369271:S2847G;ENSP00000308534:S2850G;ENSP00000440233:S643G;ENSP00000369254:S428G	ENSP00000308534:S2850G	S	+	1	0	NBEA	35139657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.027000	0.93706	2.181000	0.69327	0.533000	0.62120	AGC	NBEA	-	superfamily_WD40_repeat_dom	ENSG00000172915		0.423	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	73	0	A	NM_015678		36241657	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	G	G	36241657	A	G	36241657	3	3	173	1	0	0	0	0	1	0	0	0	10225	188	7	4	8770	4	NBEA	13	36241657	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	7490976	36241657	78928221	118	43452											
HNRNPA1L2	144983	genome.wustl.edu	37	chr13	53217214	53217214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcatccagccaaagaggtcGaaggggttctggaaactttg	11	10	12	8	1	2	1	1	0	1	1	4	3	3	2	2	4	2	1	2	4	3	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr13:53217214G>A	ENST00000357495.2	+	1	647	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.R196Q|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.R196Q			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	196	Gly-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						CAAAGAGGTCGAAGGGGTTCT	0.498																																																	0													47	41	43					13																	53217214		2123	4087	6210	SO:0001583	missense	0				CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"RNA binding motif (RRM) containing"	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.587G>A	13.37:g.53217214G>A	ENSP00000350090:p.Arg196Gln		Q5TBS2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom	p.R196Q	ENST00000357495.2	37	c.587	CCDS31980.1	13	.	.	.	.	.	.	.	.	.	.	g	7.264	0.605826	0.14002	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	D;D;D	0.85411	-1.98;-1.98;-1.98	0.352	0.352	0.16051	.	421.164000	0.01303	U	0.010341	T	0.75568	0.3867	L	0.36672	1.1	0.09310	N	1	B	0.29188	0.236	B	0.06405	0.002	T	0.60855	-0.7180	10	0.39692	T	0.17	.	2.8612	0.05588	0.4:0.0:0.6:0.0	.	196	Q32P51	RA1L2_HUMAN	Q	196	ENSP00000341285:R196Q;ENSP00000381119:R196Q;ENSP00000350090:R196Q	ENSP00000341285:R196Q	R	+	2	0	HNRNPA1L2	52115215	0.222000	0.23652	0.915000	0.36163	0.267000	0.26476	0.540000	0.23191	0.455000	0.26910	0.089000	0.15464	CGA	HNRNPA1L2	-	NULL	ENSG00000139675		0.498	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPA1L2	HGNC	protein_coding	OTTHUMT00000045098.1	-	0	58	0	G	NM_001011724		53217214	1	tier1	-	no_errors	ENST00000342657	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.124	A	A	53217214	G	A	53217214	3	1	173	1	0	0	0	0	1	0	0	0	7285	1058	37	1	589	1	HNRNPA1L2	13	53217214	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	16975557	53217214	61952664	119	43453											
ZIC2	7546	genome.wustl.edu	37	chr13	100634697	100634697	+	Frame_Shift_Del	DEL	G	G	-																															tgttccgcagccgcggcttcGgggactcggcgccgggcggc																										TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr13:100634697delG	ENST00000376335.3	+	1	672	c.379delG	c.(379-381)gggfs	p.G127fs		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	127	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.			RGFGD -> ARLPGT (in Ref. 1; AAC96325). {ECO:0000305}.	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)					CCGCGGCTTCGGGGACTCGGC	0.771																																					Pancreas(97;119 1522 31925 44771 48764)												0													1	1	1					13																	100634697		827	1911	2738	SO:0001589	frameshift_variant	0			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.379delG	13.37:g.100634697delG	ENSP00000365514:p.Gly127fs		Q5VYA9|Q9H309	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D128fs	ENST00000376335.3	37	c.379	CCDS9495.1	13																																																																																			ZIC2	-	NULL	ENSG00000043355		0.771	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2		0	16	0	G	NM_007129		100634697	1	tier1		no_errors	ENST00000376335	ensembl	human	known	74_37	frame_shift_del	20.00	8	2	DEL	1.000	-	-	100634697	G	-	100634697	7	5	173	1	0	1	0	1	0	0	0	0	17727	1116	39	0	381	0	ZIC2	13	100634697	Frame_Shift_Del	DEL	G	TCGA-VR-AA4G-01A-11D-A37C-09	47417483	100634697	14535181	120	43454											
MYH7	4625	genome.wustl.edu	37	chr14	23900828	23900828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcgttccggacggtcttgGcattgccaaaggcctccaga	7	10	12	12	3	1	1	0	0	1	1	4	2	3	2	4	4	1	2	4	4	1	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr14:23900828G>A	ENST00000355349.3	-	8	860	c.698C>T	c.(697-699)gCc>gTc	p.A233V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	233	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GACGGTCTTGGCATTGCCAAA	0.597																																																	0													170	157	161					14																	23900828		2203	4300	6503	SO:0001583	missense	0			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.698C>T	14.37:g.23900828G>A	ENSP00000347507:p.Ala233Val		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A233V	ENST00000355349.3	37	c.698	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692438	0.68271	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.98512	-4.97	3.47	3.47	0.39725	Myosin head, motor domain (3);	.	.	.	.	D	0.98883	0.9622	H	0.99211	4.47	0.80722	D	1	B	0.26363	0.147	B	0.33960	0.173	D	0.99967	1.1882	9	0.87932	D	0	.	15.4877	0.75578	0.0:0.0:1.0:0.0	.	233	P12883	MYH7_HUMAN	V	233	ENSP00000347507:A233V	ENSP00000347507:A233V	A	-	2	0	MYH7	22970668	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.380000	0.97202	1.946000	0.56461	0.305000	0.20034	GCC	MYH7	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000092054		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0	76	0	G	NM_000257		23900828	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	23900828	G	A	23900828	3	1	173	1	0	0	0	0	1	0	0	0	10077	1203	42	3	5241	3	MYH7	14	23900828	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		23900828	83448712	121	43455											
C14orf4	64207	genome.wustl.edu	37	chr14	77492226	77492226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatccttgggcgagtgcGctgtgcccagagtatctgcc	5	10	13	13	2	1	1	0	0	1	1	2	2	2	1	4	1	4	2	4	1	1	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr14:77492226G>A	ENST00000238647.3	-	1	2808	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	637					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						GGGCGAGTGCGCTGTGCCCAG	0.682																																																	0													14	14	14					14																	77492226		2157	4199	6356	SO:0001583	missense	0			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.1910C>T	14.37:g.77492226G>A	ENSP00000238647:p.Ala637Val		Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.A637V	ENST00000238647.3	37	c.1910	CCDS9854.1	14	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883119	0.51908	.	.	ENSG00000119669	ENST00000238647	T	0.64991	-0.13	4.48	3.59	0.41128	.	0.070349	0.56097	U	0.000035	T	0.59376	0.2189	L	0.40543	1.245	0.43756	D	0.996261	D	0.67145	0.996	P	0.50270	0.636	T	0.60316	-0.7287	10	0.49607	T	0.09	-0.4619	11.181	0.48627	0.0895:0.0:0.9105:0.0	.	637	Q9H1B7	I2BPL_HUMAN	V	637	ENSP00000238647:A637V	ENSP00000238647:A637V	A	-	2	0	IRF2BPL	76561979	1.000000	0.71417	0.992000	0.48379	0.932000	0.56968	6.422000	0.73357	1.091000	0.41335	0.462000	0.41574	GCG	IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000119669		0.682	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1	-	0	44	0	G	NM_024496		77492226	-1	tier1	-	no_errors	ENST00000238647	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.996	A	A	77492226	G	A	77492226	3	1	173	1	0	0	0	0	1	0	0	0	1778	1087	38	1	484	1	C14orf4	14	77492226	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	53591398	77492226	29857314	122	43456											
EVL	51466	genome.wustl.edu	37	chr14	100594903	100594903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgcagccagcgcccccGtctcatgtagtgggcctcca	6	8	10	17	2	2	0	1	0	2	0	4	0	3	0	5	1	3	2	5	1	1	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr14:100594903G>A	ENST00000402714.2	+	6	1133	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	EVL_ENST00000392920.3_Missense_Mutation_p.V179I|EVL_ENST00000544450.2_Missense_Mutation_p.V183I			Q9UI08	EVL_HUMAN	Enah/Vasp-like	177	Pro-rich.				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)				CAGCGCCCCCGTCTCATGTAG	0.692																																																	0													43	41	42					14																	100594903		2203	4300	6503	SO:0001583	missense	0			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.529G>A	14.37:g.100594903G>A	ENSP00000384720:p.Val177Ile		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1	p.V179I	ENST00000402714.2	37	c.535		14	.	.	.	.	.	.	.	.	.	.	G	8.157	0.788619	0.16258	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470;ENST00000557153;ENST00000557384	T;T;T;T;T	0.71103	-0.54;-0.53;-0.49;-0.44;1.8	4.96	-0.947	0.10382	.	1.168000	0.06262	N	0.694062	T	0.50017	0.1591	N	0.22421	0.69	0.09310	N	1	B;B;B	0.13594	0.008;0.005;0.008	B;B;B	0.09377	0.002;0.004;0.001	T	0.20571	-1.0271	10	0.19147	T	0.46	-2.3892	3.2894	0.06944	0.2947:0.2137:0.4062:0.0854	.	183;179;177	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	I	177;183;179;179;164;73	ENSP00000384720:V177I;ENSP00000437904:V183I;ENSP00000376652:V179I;ENSP00000452327:V164I;ENSP00000450979:V73I	ENSP00000376652:V179I	V	+	1	0	EVL	99664656	0.006000	0.16342	0.870000	0.34147	0.610000	0.37248	-0.307000	0.08167	-0.119000	0.11830	-1.332000	0.01269	GTC	EVL	-	pirsf_Vasodilator_phosphoprotein	ENSG00000196405		0.692	EVL-006	KNOWN	basic|appris_candidate	protein_coding	EVL	HGNC	protein_coding	OTTHUMT00000413958.1	-	0	104	0	G			100594903	1	tier1	-	no_errors	ENST00000392920	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.586	A	A	100594903	G	A	100594903	3	1	173	1	0	0	0	0	1	0	0	0	5307	1145	40	1	557	1	EVL	14	100594903	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	23102677	100594903	6754637	123	43457											
PPP1R13B	23368	genome.wustl.edu	37	chr14	104206296	104206296	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	gtggccacgttgttgttattGtcctctgccggctcggcagt	3	14	13	11	3	1	0	0	0	1	0	3	0	2	0	3	3	1	5	3	3	1	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr14:104206296G>C	ENST00000202556.9	-	12	2739	c.2457C>G	c.(2455-2457)gaC>gaG	p.D819E	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.D238E	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	819	Pro-rich.				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)		p.D819D(1)		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)				TGTTGTTATTGTCCTCTGCCG	0.602																																																	1	Substitution - coding silent(1)	lung(1)											40	47	45					14																	104206296		2065	4202	6267	SO:0001583	missense	0			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.2457C>G	14.37:g.104206296G>C	ENSP00000202556:p.Asp819Glu		B2RMX5|O94870	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.D819E	ENST00000202556.9	37	c.2457	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494127	0.26774	.	.	ENSG00000088808	ENST00000202556;ENST00000423488	T;T	0.53206	0.84;0.63	5.27	-2.86	0.05717	.	0.197448	0.49916	D	0.000127	T	0.41604	0.1166	L	0.47716	1.5	0.27126	N	0.96201	D	0.67145	0.996	P	0.51615	0.675	T	0.52064	-0.8625	10	0.07175	T	0.84	.	13.2508	0.60050	0.5453:0.0:0.4547:0.0	.	819	Q96KQ4	ASPP1_HUMAN	E	819;238	ENSP00000202556:D819E;ENSP00000395213:D238E	ENSP00000202556:D819E	D	-	3	2	PPP1R13B	103276049	0.001000	0.12720	0.132000	0.22025	0.866000	0.49608	-0.452000	0.06787	-0.516000	0.06470	0.561000	0.74099	GAC	PPP1R13B	-	NULL	ENSG00000088808		0.602	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	HGNC	protein_coding	OTTHUMT00000414591.1		0	36	0	G	NM_015316		104206296	-1			no_errors	ENST00000202556	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.127	C	C	104206296	G	C	104206296	3	2	173	1	0	0	0	0	1	0	0	0	12399	1368	48	5	839	5	PPP1R13B	14	104206296	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	3611393	104206296	3143244	124	43458											
KIF26A	26153	genome.wustl.edu	37	chr14	104639512	104639512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggccgaggtggcccctgGcagcctccaggacacccagt	6	5	14	16	1	0	0	0	0	0	0	1	2	1	1	6	5	1	2	6	5	0	0			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr14:104639512G>A	ENST00000423312.2	+	8	1619	c.1619G>A	c.(1618-1620)gGc>gAc	p.G540D	KIF26A_ENST00000315264.7_Missense_Mutation_p.G401D	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	540	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCCCCTGGCAGCCTCCAG	0.726																																																	0													13	19	17					14																	104639512		2003	4138	6141	SO:0001583	missense	0			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.1619G>A	14.37:g.104639512G>A	ENSP00000388241:p.Gly540Asp		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.G540D	ENST00000423312.2	37	c.1619	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420196	0.62622	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.80909	-1.43;-1.41	5.18	4.29	0.51040	Kinesin, motor domain (4);	.	.	.	.	T	0.77685	0.4167	L	0.56280	1.765	0.58432	D	0.999996	B	0.33477	0.413	B	0.35607	0.206	T	0.76846	-0.2808	9	0.51188	T	0.08	.	13.5354	0.61644	0.0758:0.0:0.9242:0.0	.	540	Q9ULI4	KI26A_HUMAN	D	540;401	ENSP00000388241:G540D;ENSP00000325452:G401D	ENSP00000325452:G401D	G	+	2	0	KIF26A	103709265	1.000000	0.71417	0.498000	0.27564	0.196000	0.23810	5.235000	0.65348	1.164000	0.42652	0.462000	0.41574	GGC	KIF26A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000066735		0.726	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	-	0	42	0	G			104639512	1	tier1	-	no_errors	ENST00000423312	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	104639512	G	A	104639512	3	1	173	1	0	0	0	0	1	0	0	0	8321	1203	42	3	1649	3	KIF26A	14	104639512	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	433216	104639512	2710028	125	43459											
FMN1	342184	genome.wustl.edu	37	chr15	33261259	33261259	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagatccaagtcctgagggGaggggcggagggggagggat	11	4	21	5	1	0	2	0	1	0	1	2	6	2	6	2	8	0	0	2	8	2	0			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr15:33261259G>A	ENST00000559047.1	-	5	2642	c.2643C>T	c.(2641-2643)ctC>ctT	p.L881L	FMN1_ENST00000334528.9_Silent_p.L658L|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Silent_p.L783L			Q68DA7	FMN1_HUMAN	formin 1	881	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)		GTCCTGAGGGGAGGGGCGGAG	0.627																																																	0													29	27	27					15																	33261259		1968	4148	6116	SO:0001819	synonymous_variant	0			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.2643C>T	15.37:g.33261259G>A			Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam	p.L658	ENST00000559047.1	37	c.1974		15																																																																																			FMN1	-	NULL	ENSG00000248905		0.627	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1		0	27	0	G	NM_001103184		33261259	-1			no_errors	ENST00000334528	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.000	A	A	33261259	G	A	33261259	2	1	173	1	0	0	0	0	0	0	0	1	5971	1161	41	3		3	FMN1	15	33261259	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		33261259	69270133	126	43460											
USP50	9101	genome.wustl.edu	37	chr15	50792968	50792968	+	3'UTR	SNP	A	A	G	1	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	tgtgttatcaaagctatatcAggcctgggtgactgaattct	10	14	10	7	0	3	2	2	2	1	0	3	2	3	2	1	2	1	2	1	2	5	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr15:50792968A>G	ENST00000396444.3	+	0	5378				USP8_ENST00000433963.1_3'UTR|USP50_ENST00000530218.1_5'Flank|USP50_ENST00000532404.1_Nonstop_Mutation_p.*335R|RP11-562A8.4_ENST00000560380.1_RNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8						cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AAGCTATATCAGGCCTGGGTG	0.428																																																	0													69	64	66					15																	50792968		1896	4110	6006	SO:0001624	3_prime_UTR_variant	0			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.*1683A>G	15.37:g.50792968A>G			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Nonstop_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.*335R	ENST00000396444.3	37	c.1003	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615470	0.87359	.	.	ENSG00000170236	ENST00000532404	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4159	0.67151	1.0:0.0:0.0:0.0	.	.	.	.	R	335	.	.	X	-	1	0	USP50	48580260	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.533000	0.81994	2.223000	0.72356	0.482000	0.46254	TGA	USP50	-	NULL	ENSG00000170236		0.428	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP50	HGNC	protein_coding	OTTHUMT00000254541.1	-	0	48	0	A	NM_005154		50792968	-1	tier1	-	no_errors	ENST00000532404	ensembl	human	known	74_37	nonstop	9.09	40	4	SNP	1.000	G	G	50792968	A	G	50792968	1	3	173	0	1	0	0	0	0	0	0	0	17131	201	7	4		4	USP50	15	50792968	3'UTR	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	17531709	50792968	51738424	127	43461											
DMXL2	23312	genome.wustl.edu	37	chr15	51773127	51773127	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	catctacttcataacctgtaGccaatgttcttaattcagtc	11	15	4	11	0	4	0	2	0	2	0	5	0	4	0	2	0	3	2	2	0	5	7			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr15:51773127G>T	ENST00000251076.5	-	24	6463	c.6176C>A	c.(6175-6177)gCt>gAt	p.A2059D	DMXL2_ENST00000449909.3_Missense_Mutation_p.A1423D|DMXL2_ENST00000543779.2_Missense_Mutation_p.A2059D|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2059						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)		ATAACCTGTAGCCAATGTTCT	0.363																																																	0													113	113	113					15																	51773127		2196	4293	6489	SO:0001583	missense	0			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.6176C>A	15.37:g.51773127G>T	ENSP00000251076:p.Ala2059Asp		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2059D	ENST00000251076.5	37	c.6176	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450444	0.84101	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.79352	-1.26;-1.26;-1.26	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89508	0.6735	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.997	D;D;D;D	0.91635	0.999;0.994;0.997;0.951	D	0.90581	0.4529	10	0.87932	D	0	.	19.4072	0.94653	0.0:0.0:1.0:0.0	.	2059;1423;2059;2059	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	D	2059;2059;1423	ENSP00000251076:A2059D;ENSP00000441858:A2059D;ENSP00000400855:A1423D	ENSP00000251076:A2059D	A	-	2	0	DMXL2	49560419	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	9.143000	0.94623	2.578000	0.87016	0.650000	0.86243	GCT	DMXL2	-	NULL	ENSG00000104093		0.363	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	-	0	43	0	G	NM_015263		51773127	-1	tier1	-	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	T	T	51773127	G	T	51773127	3	4	173	1	0	0	0	0	1	0	0	0	4609	971	34	3	3017	3	DMXL2	15	51773127	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	980159	51773127	50758265	128	43462											
VPS13C	54832	genome.wustl.edu	37	chr15	62305246	62305246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattaatattaccaaaatctGttcccttgatctctggtaag	12	15	5	9	0	2	1	0	1	2	0	4	1	3	1	2	1	1	2	2	1	6	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr15:62305246G>T	ENST00000261517.5	-	11	890	c.817C>A	c.(817-819)Cag>Aag	p.Q273K	VPS13C_ENST00000395896.4_Missense_Mutation_p.Q273K|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q230K|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q230K	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						ACCAAAATCTGTTCCCTTGAT	0.378																																																	0													81	74	76					15																	62305246		2203	4299	6502	SO:0001583	missense	0			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.817C>A	15.37:g.62305246G>T	ENSP00000261517:p.Gln273Lys			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.Q273K	ENST00000261517.5	37	c.817	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728876	0.30684	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.44482	0.93;0.92;1.1	5.83	5.83	0.93111	.	0.568411	0.17787	N	0.162030	T	0.36248	0.0960	L	0.35341	1.055	0.26461	N	0.975443	B;B;B;B	0.19200	0.034;0.034;0.003;0.021	B;B;B;B	0.18561	0.013;0.022;0.009;0.01	T	0.25328	-1.0135	10	0.52906	T	0.07	.	15.5806	0.76432	0.0:0.1371:0.8629:0.0	.	230;273;230;273	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	230;273;273;273	ENSP00000249837:Q230K;ENSP00000261517:Q273K;ENSP00000379233:Q273K	ENSP00000249837:Q230K	Q	-	1	0	VPS13C	60092538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.352000	0.52239	2.761000	0.94854	0.650000	0.86243	CAG	VPS13C	-	NULL	ENSG00000129003		0.378	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	-	0	28	0	G	NM_017684		62305246	-1	tier1	-	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	62305246	G	T	62305246	3	4	173	1	0	0	0	0	1	0	0	0	17240	1386	48	3	10772	3	VPS13C	15	62305246	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	10532119	62305246	40226146	129	43463											
PDE8A	5151	genome.wustl.edu	37	chr15	85619146	85619146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttattgttggtgtagtacGcaggtaaactttcatttttt	9	19	9	4	1	1	0	1	0	0	0	1	0	1	0	0	2	2	6	0	2	5	10			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr15:85619146G>A	ENST00000310298.4	+	5	740	c.488G>A	c.(487-489)cGc>cAc	p.R163H	PDE8A_ENST00000339708.5_Missense_Mutation_p.R163H|PDE8A_ENST00000557957.1_Missense_Mutation_p.R91H|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Missense_Mutation_p.R163H			O60658	PDE8A_HUMAN	phosphodiesterase 8A	163					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)	GGTGTAGTACGCAGGTAAACT	0.313																																																	0													280	283	282					15																	85619146		2202	4299	6501	SO:0001583	missense	0			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.488G>A	15.37:g.85619146G>A	ENSP00000311453:p.Arg163His		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.R163H	ENST00000310298.4	37	c.488	CCDS10336.1	15	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215661	0.58452	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.43688	0.94;0.94;0.94	5.01	5.01	0.66863	Signal transduction response regulator, receiver domain (1);	0.495183	0.15725	N	0.247707	T	0.55114	0.1900	L	0.48362	1.52	0.49213	D	0.99976	B;D	0.65815	0.286;0.995	B;P	0.60886	0.091;0.88	T	0.50215	-0.8854	10	0.41790	T	0.15	.	16.1955	0.82023	0.0:0.0:1.0:0.0	.	163;163	O60658-2;O60658	.;PDE8A_HUMAN	H	163	ENSP00000311453:R163H;ENSP00000378056:R163H;ENSP00000340679:R163H	ENSP00000311453:R163H	R	+	2	0	PDE8A	83420150	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.039000	0.57325	2.485000	0.83878	0.603000	0.83216	CGC	PDE8A	-	pfam_Sig_transdc_resp-reg_receiver,superfamily_CheY-like_superfamily	ENSG00000073417		0.313	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8A	HGNC	protein_coding	OTTHUMT00000309018.1	-	0	66	0	G	NM_002605		85619146	1	tier1	-	no_errors	ENST00000310298	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	85619146	G	A	85619146	3	1	173	1	0	0	0	0	1	0	0	0	11692	1087	38	1	502	1	PDE8A	15	85619146	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	23313900	85619146	16912246	130	43464											
PTX4	390667	genome.wustl.edu	37	chr16	1537581	1537581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgcagtgccagggtgggCcacgggcagccgcccctcca	5	4	16	16	2	0	0	0	0	0	0	1	0	1	0	6	4	3	3	6	4	0	0	rs375706387		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr16:1537581C>T	ENST00000447419.2	-	2	557	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.A173T			Q96A99	PTX4_HUMAN	pentraxin 4, long	178						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGGGTGGGCCACGGGCAGC	0.731																																																	0								C	THR/ALA	0,4334		0,0,2167	10	12	12		517	-4.2	0	16		12	1,8447		0,1,4223	no	missense	PTX4	NM_001013658.1	58	0,1,6390	TT,TC,CC		0.0118,0.0,0.0078	benign	173/474	1537581	1,12781	2167	4224	6391	SO:0001583	missense	0				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.532G>A	16.37:g.1537581C>T	ENSP00000445277:p.Ala178Thr			Missense_Mutation	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.A178T	ENST00000447419.2	37	c.532		16	.	.	.	.	.	.	.	.	.	.	C	11.16	1.558023	0.27827	0.0	1.18E-4	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.06608	3.46;3.28	5.37	-4.15	0.03881	.	1.374570	0.04567	N	0.392521	T	0.04588	0.0125	L	0.29908	0.895	0.09310	N	1	B	0.23806	0.091	B	0.22386	0.039	T	0.41034	-0.9531	10	0.40728	T	0.16	.	3.0165	0.06061	0.1099:0.2568:0.4118:0.2214	.	173	Q96A99-2	.	T	178;173	ENSP00000445277:A178T;ENSP00000293922:A173T	ENSP00000293922:A173T	A	-	1	0	PTX4	1477582	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.017000	0.13399	-0.888000	0.03956	-0.892000	0.02923	GCC	PTX4	-	NULL	ENSG00000251692		0.731	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1		0	83	0	C	NM_001013658		1537581	-1			no_errors	ENST00000447419	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.001	T	T	1537581	C	T	1537581	3	4	173	1	0	0	0	0	1	0	0	0	12868	739	26	3	911	3	PTX4	16	1537581	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09		1537581	88817172	131	43465											
XYLT1	64131	genome.wustl.edu	37	chr16	17353097	17353097	+	Frame_Shift_Del	DEL	C	C	-																															gctgttggctgcggctctgtCcccgggaggcagcacctcac																										TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr16:17353097delC	ENST00000261381.6	-	3	745	c.661delG	c.(661-663)gacfs	p.D221fs		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	221					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						GCGGCTCTGTCCCCGGGAGGC	0.587																																																	0													106	117	114					16																	17353097		2197	4300	6497	SO:0001589	frameshift_variant	0			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.661delG	16.37:g.17353097delC	ENSP00000261381:p.Asp221fs		Q9H1B6	Frame_Shift_Del	DEL	pfam_XylT,pfam_Glyco_trans_14	p.D221fs	ENST00000261381.6	37	c.661	CCDS10569.1	16																																																																																			XYLT1	-	NULL	ENSG00000103489		0.587	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2		0	36	0	C	NM_022166		17353097	-1	tier1		no_errors	ENST00000261381	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.000	-	-	17353097	C	-	17353097	7	5	173	1	0	1	0	1	0	0	0	0	17512	855	30	0	2258	0	XYLT1	16	17353097	Frame_Shift_Del	DEL	C	TCGA-VR-AA4G-01A-11D-A37C-09	15815516	17353097	73001656	132	43466											
TMC5	79838	genome.wustl.edu	37	chr16	19451843	19451843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattttggctccttagaaccGgactaccctggagctcagag	9	10	10	12	1	1	2	1	0	0	2	2	4	2	4	3	3	3	2	3	3	3	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr16:19451843G>A	ENST00000396229.2	+	3	1232	c.483G>A	c.(481-483)ccG>ccA	p.P161P	TMC5_ENST00000542583.2_Silent_p.P161P|TMC5_ENST00000541464.1_Silent_p.P161P|TMC5_ENST00000381414.4_Silent_p.P161P	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	161					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P161P(1)		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						CCTTAGAACCGGACTACCCTG	0.478																																																	1	Substitution - coding silent(1)	lung(1)											167	161	162					16																	19451843		1916	4140	6056	SO:0001819	synonymous_variant	0			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.483G>A	16.37:g.19451843G>A			Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	pfam_TMC	p.P161	ENST00000396229.2	37	c.483	CCDS45431.1	16																																																																																			TMC5	-	NULL	ENSG00000103534		0.478	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	-	0	33	0	G	NM_024780		19451843	1	tier1	-	no_errors	ENST00000396229	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.992	A	A	19451843	G	A	19451843	2	1	173	1	0	0	0	0	0	0	0	1	16035	1103	39	1		1	TMC5	16	19451843	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	2098746	19451843	70902910	133	43467											
IL4R	3566	genome.wustl.edu	37	chr16	27373610	27373610	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccaagctcttgccctgtTttctggagcacaacatgaaa	11	12	7	11	0	2	1	0	1	2	0	2	2	2	2	2	1	5	3	2	1	4	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr16:27373610T>G	ENST00000395762.2	+	11	1196	c.937T>G	c.(937-939)Ttt>Gtt	p.F313V	IL4R_ENST00000543915.2_Missense_Mutation_p.F313V|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Missense_Mutation_p.F298V|IL4R_ENST00000170630.2_Missense_Mutation_p.F313V	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	313					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						CTTGCCCTGTTTTCTGGAGCA	0.463																																																	0													86	94	91					16																	27373610		2197	4300	6497	SO:0001583	missense	0			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.937T>G	16.37:g.27373610T>G	ENSP00000379111:p.Phe313Val		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.F313V	ENST00000395762.2	37	c.937	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229511	0.39399	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	4.8	1.22	0.21188	.	0.461649	0.17048	N	0.189036	T	0.08133	0.0203	L	0.36672	1.1	0.26451	N	0.975602	B;B;B	0.22909	0.077;0.077;0.077	B;B;B	0.20184	0.028;0.016;0.016	T	0.25916	-1.0118	10	0.48119	T	0.1	-28.0519	6.4182	0.21728	0.0:0.3287:0.0:0.6713	.	298;313;313	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	V	313;313;298;313	ENSP00000379111:F313V;ENSP00000441667:F313V;ENSP00000370309:F298V;ENSP00000170630:F313V	ENSP00000170630:F313V	F	+	1	0	IL4R	27281111	0.927000	0.31430	0.462000	0.27118	0.762000	0.43233	0.197000	0.17197	-0.052000	0.13311	0.533000	0.62120	TTT	IL4R	-	NULL	ENSG00000077238		0.463	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	-	0	56	0	T			27373610	1	tier1	-	no_errors	ENST00000170630	ensembl	human	known	74_37	missense	34.72	47	25	SNP	0.934	G	G	27373610	T	G	27373610	3	3	173	1	0	0	0	0	1	0	0	0	7725	1841	64	4	989	4	IL4R	16	27373610	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	7921767	27373610	62981143	134	43468											
IL21R	50615	genome.wustl.edu	37	chr16	27460100	27460100	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggagagggatcggccataCggcctggtgtccattgacac	9	7	15	10	2	0	2	0	1	0	1	2	5	1	3	3	5	1	0	3	5	1	2	rs145529117	byFrequency	TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr16:27460100C>T	ENST00000337929.3	+	9	1586	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	IL21R_ENST00000395755.1_Silent_p.Y371Y|IL21R_ENST00000395754.4_Silent_p.Y371Y|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Silent_p.Y371Y	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	371					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						ATCGGCCATACGGCCTGGTGT	0.632			T	BCL6	NHL																																			Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0								C	,,	6,4388	11.4+/-27.6	0,6,2191	65	62	63		1113,1113,1179	-10.4	0	16	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	IL21R	NM_021798.3,NM_181078.2,NM_181079.4	,,	0,6,6491	TT,TC,CC		0.0,0.1365,0.0462	,,	371/539,371/539,393/561	27460100	6,12988	2197	4300	6497	SO:0001819	synonymous_variant	0			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.1113C>T	16.37:g.27460100C>T			A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	superfamily_Fibronectin_type3	p.Y371	ENST00000337929.3	37	c.1113	CCDS10630.1	16																																																																																			IL21R	-	NULL	ENSG00000103522		0.632	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21R	HGNC	protein_coding	OTTHUMT00000254578.2		0	26	0	C	NM_181078		27460100	1			no_errors	ENST00000337929	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.010	T	T	27460100	C	T	27460100	2	4	173	1	0	0	0	0	0	0	0	1	7698	547	19	1		1	IL21R	16	27460100	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	86490	27460100	62894653	135	43469											
ZNF747	65988	genome.wustl.edu	37	chr16	30545838	30545838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggccctctgcgcgggccGcaggcagccccactcctccc	4	4	12	21	3	1	0	0	0	1	0	3	0	3	0	6	3	2	2	6	3	0	0			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr16:30545838G>A	ENST00000252799.3	-	1	830	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	AC002310.13_ENST00000568114.1_Intron|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000569360.1_Missense_Mutation_p.R55W|ZNF747_ENST00000535210.1_Missense_Mutation_p.R55W|AC002310.12_ENST00000569752.1_RNA|ZNF747_ENST00000395094.3_Missense_Mutation_p.R55W|ZNF747_ENST00000568028.1_Missense_Mutation_p.R55W	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						TGCGCGGGCCGCAGGCAGCCC	0.731																																																	0													14	17	16					16																	30545838		2187	4287	6474	SO:0001583	missense	0			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"Zinc fingers, C2H2-type", "-"	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.163C>T	16.37:g.30545838G>A	ENSP00000252799:p.Arg55Trp		A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R55W	ENST00000252799.3	37	c.163	CCDS10682.1	16	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243903	0.58995	.	.	ENSG00000169955	ENST00000535210;ENST00000252799;ENST00000395094	T;T;T	0.01767	4.65;4.65;4.65	2.5	2.5	0.30297	Krueppel-associated box (4);	.	.	.	.	T	0.06554	0.0168	L	0.55481	1.735	0.21325	N	0.999724	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	T	0.21895	-1.0232	9	0.72032	D	0.01	.	8.6086	0.33789	0.0:0.0:1.0:0.0	.	55;55	Q9BV97-2;Q9BV97	.;ZN747_HUMAN	W	55	ENSP00000441702:R55W;ENSP00000252799:R55W;ENSP00000378528:R55W	ENSP00000252799:R55W	R	-	1	2	ZNF747	30453339	0.006000	0.16342	0.942000	0.38095	0.525000	0.34531	0.058000	0.14301	1.705000	0.51264	0.484000	0.47621	CGG	ZNF747	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000169955		0.731	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	ZNF747	HGNC	protein_coding	OTTHUMT00000255532.2	-	0	62	0	G	NM_023931		30545838	-1	tier1	-	no_errors	ENST00000535210	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.579	A	A	30545838	G	A	30545838	3	1	173	1	0	0	0	0	1	0	0	0	18178	1086	38	1	420	1	ZNF747	16	30545838	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	3085738	30545838	59808915	136	43470											
SHCBP1	79801	genome.wustl.edu	37	chr16	46650016	46650016	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagagtcacagaggtatggTtcagcaagcctcaccactgc	11	8	11	11	0	3	2	3	1	0	2	3	3	3	2	2	2	3	3	2	2	2	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr16:46650016T>C	ENST00000303383.3	-	4	704	c.438A>G	c.(436-438)gaA>gaG	p.E146E		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	146					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AGAGGTATGGTTCAGCAAGCC	0.458																																																	0													85	78	80					16																	46650016		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.438A>G	16.37:g.46650016T>C			Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	p.E146	ENST00000303383.3	37	c.438	CCDS10720.1	16																																																																																			SHCBP1	-	NULL	ENSG00000171241		0.458	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1	HGNC	protein_coding	OTTHUMT00000255740.1	-	0	39	0	T	NM_024745		46650016	-1	tier1	-	no_errors	ENST00000303383	ensembl	human	known	74_37	silent	18.75	39	9	SNP	0.036	C	C	46650016	T	C	46650016	2	2	173	1	0	0	0	0	0	0	0	1	14319	1722	60	4		4	SHCBP1	16	46650016	Silent	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	16104178	46650016	43704737	137	43471											
ABCC11	85320	genome.wustl.edu	37	chr16	48247407	48247407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagacctttgactgcaatagGcacaaagaacactgacagcc	15	6	9	11	0	0	4	0	2	0	2	0	5	0	4	2	1	3	2	2	1	4	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr16:48247407G>A	ENST00000394747.1	-	9	1652	c.1303C>T	c.(1303-1305)Cct>Tct	p.P435S	ABCC11_ENST00000394748.1_Missense_Mutation_p.P435S|ABCC11_ENST00000356608.2_Missense_Mutation_p.P435S|ABCC11_ENST00000353782.5_Missense_Mutation_p.P435S|ABCC11_ENST00000537808.1_Missense_Mutation_p.P435S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	435	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	ACTGCAATAGGCACAAAGAAC	0.562																																																	0													127	101	110					16																	48247407		2201	4300	6501	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1303C>T	16.37:g.48247407G>A	ENSP00000378230:p.Pro435Ser		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.P435S	ENST00000394747.1	37	c.1303	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269501	0.59540	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.94613	-3.47;-3.37;-3.37;-3.37;-2.79	4.25	4.25	0.50352	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96451	0.8842	M	0.71581	2.175	0.39045	D	0.960217	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97250	0.9897	10	0.72032	D	0.01	-23.1065	12.5312	0.56115	0.0:0.0:1.0:0.0	.	435;435	Q96J66-2;Q96J66	.;ABCCB_HUMAN	S	435	ENSP00000311326:P435S;ENSP00000349017:P435S;ENSP00000378231:P435S;ENSP00000378230:P435S;ENSP00000438530:P435S	ENSP00000311326:P435S	P	-	1	0	ABCC11	46804908	0.650000	0.27331	0.159000	0.22649	0.017000	0.09413	2.394000	0.44450	2.071000	0.62044	0.655000	0.94253	CCT	ABCC11	-	superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000121270		0.562	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0	51	0	G	NM_032583		48247407	-1	tier1	-	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.641	A	A	48247407	G	A	48247407	3	1	173	1	0	0	0	0	1	0	0	0	51	1203	42	3	2929	3	ABCC11	16	48247407	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	1597391	48247407	42107346	138	43472											
CDH16	1014	genome.wustl.edu	37	chr16	66944394	66944394	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	caggggtgcagaagcgctcaGtctcggctcatctgcagagg	8	7	15	11	2	4	2	2	0	2	2	5	2	4	2	0	4	3	4	0	4	1	0			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr16:66944394G>T	ENST00000299752.4	-	15	2129	c.1936C>A	c.(1936-1938)Ctg>Atg	p.L646M	CDH16_ENST00000565796.1_Intron|CDH16_ENST00000570262.1_Missense_Mutation_p.L566M|CDH16_ENST00000394055.3_Intron|CDH16_ENST00000568632.1_Missense_Mutation_p.L549M	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	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GAAGCGCTCAGTCTCGGCTCA	0.657																																																	0													68	73	71					16																	66944394		2200	4300	6500	SO:0001583	missense	0			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.1936C>A	16.37:g.66944394G>T	ENSP00000299752:p.Leu646Met		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L646M	ENST00000299752.4	37	c.1936	CCDS10823.1	16	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971689	0.53614	.	.	ENSG00000166589	ENST00000299752;ENST00000544875	T	0.55234	0.53	4.78	0.441	0.16577	Cadherin (3);Cadherin-like (1);	0.092994	0.44483	N	0.000441	T	0.39436	0.1078	M	0.62723	1.935	0.35302	D	0.783141	P;P	0.43287	0.802;0.802	B;B	0.36922	0.184;0.236	T	0.41466	-0.9507	9	.	.	.	-4.2804	3.7968	0.08743	0.2862:0.0:0.5442:0.1696	.	646;646	B2R7S8;O75309	.;CAD16_HUMAN	M	646;610	ENSP00000299752:L646M	.	L	-	1	2	CDH16	65501895	0.724000	0.28038	0.283000	0.24790	0.798000	0.45092	0.839000	0.27586	0.227000	0.20999	0.455000	0.32223	CTG	CDH16	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166589		0.657	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH16	HGNC	protein_coding	OTTHUMT00000268839.2	-	0	66	0	G	NM_004062		66944394	-1	tier1	-	no_errors	ENST00000299752	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.131	T	T	66944394	G	T	66944394	3	4	173	1	0	0	0	0	1	0	0	0	3108	1020	36	3	569	3	CDH16	16	66944394	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	18696987	66944394	23410359	139	43473											
TPPP3	51673	genome.wustl.edu	37	chr16	67425008	67425008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	cccagccatgtctgtgctcgCtgccatgccaccctatagag	7	9	9	16	1	1	1	0	0	1	1	2	1	1	1	5	0	4	2	5	0	2	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr16:67425008C>T	ENST00000564104.1	-	1	848	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000290942.5_Missense_Mutation_p.A3T|TPPP3_ENST00000393957.2_Missense_Mutation_p.A3T|TPPP3_ENST00000562206.1_Missense_Mutation_p.A3T			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	3					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCTGTGCTCGCTGCCATGCCA	0.597																																																	0													63	57	59					16																	67425008		2198	4300	6498	SO:0001583	missense	0			BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.7G>A	16.37:g.67425008C>T	ENSP00000462435:p.Ala3Thr		Q49AH9|Q9Y326|Q9Y6H0	Missense_Mutation	SNP	pfam_P25-alpha	p.A3T	ENST00000564104.1	37	c.7	CCDS10835.1	16	.	.	.	.	.	.	.	.	.	.	C	9.315	1.056563	0.19907	.	.	ENSG00000159713	ENST00000393957;ENST00000290942	T;T	0.44482	0.92;0.92	5.03	2.04	0.26737	.	0.426330	0.23764	N	0.044794	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	10	0.13470	T	0.59	-18.6585	9.4611	0.38785	0.0:0.7694:0.0:0.2306	.	3	Q9BW30	TPPP3_HUMAN	T	3	ENSP00000377529:A3T;ENSP00000290942:A3T	ENSP00000290942:A3T	A	-	1	0	TPPP3	65982509	0.031000	0.19500	0.328000	0.25416	0.896000	0.52359	3.011000	0.49567	0.313000	0.23062	0.491000	0.48974	GCG	TPPP3	-	NULL	ENSG00000159713		0.597	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TPPP3	HGNC	protein_coding	OTTHUMT00000421787.2	-	0	67	0	C	NM_015964		67425008	-1	tier1	-	no_errors	ENST00000290942	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.102	T	T	67425008	C	T	67425008	3	4	173	1	0	0	0	0	1	0	0	0	16463	797	28	3	535	3	TPPP3	16	67425008	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	480614	67425008	22929745	140	43474											
HP	3240	genome.wustl.edu	37	chr16	72094632	72094632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacacctgctatggcgatgCgggcagtgcctttgccgttc	6	10	13	12	3	0	1	0	0	0	1	1	2	0	1	3	2	4	3	3	2	1	3	rs367968695		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr16:72094632C>T	ENST00000355906.5	+	7	1122	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	HP_ENST00000357763.4_Missense_Mutation_p.A391V|HP_ENST00000570083.1_Missense_Mutation_p.A296V|HP_ENST00000562526.1_3'UTR|HP_ENST00000398131.2_Missense_Mutation_p.A296V|HP_ENST00000565574.1_Missense_Mutation_p.A296V|HPR_ENST00000356967.5_Intron|HPR_ENST00000540303.2_5'Flank|HPR_ENST00000561690.1_5'Flank	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	355	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TATGGCGATGCGGGCAGTGCC	0.537																																																	0								C	VAL/ALA,VAL/ALA	0,4204		0,0,2102	167	165	166		887,1064	5.2	1	16		166	2,8442		0,2,4220	no	missense,missense	HP	NM_001126102.1,NM_005143.3	64,64	0,2,6322	TT,TC,CC		0.0237,0.0,0.0158	probably-damaging,probably-damaging	296/348,355/407	72094632	2,12646	2102	4222	6324	SO:0001583	missense	0				CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.1064C>T	16.37:g.72094632C>T	ENSP00000348170:p.Ala355Val		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A355V	ENST00000355906.5	37	c.1064	CCDS45524.1	16	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095638	0.36952	0.0	2.37E-4	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763	D;D	0.89270	-2.49;-2.49	5.21	5.21	0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.92459	0.7606	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.996	D	0.92654	0.6135	10	0.87932	D	0	.	13.3246	0.60452	0.0:0.8413:0.1587:0.0	.	177;230;296;355	Q6PEJ8;Q6NSB4;Q0VAC5;P00738	.;.;.;HPT_HUMAN	V	355;296;230;331	ENSP00000348170:A355V;ENSP00000381199:A296V	ENSP00000348170:A355V	A	+	2	0	HP	70652133	0.814000	0.29104	0.955000	0.39395	0.887000	0.51463	1.077000	0.30741	2.713000	0.92767	0.650000	0.86243	GCG	HP	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000257017		0.537	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HP	HGNC	protein_coding	OTTHUMT00000421680.1	-	0	80	0	C	NM_005143		72094632	1	tier1	-	no_errors	ENST00000355906	ensembl	human	known	74_37	missense	23.46	62	19	SNP	0.998	T	T	72094632	C	T	72094632	3	4	173	1	0	0	0	0	1	0	0	0	7354	768	27	1	1090	1	HP	16	72094632	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	4669624	72094632	18260121	141	43475											
FANCA	2175	genome.wustl.edu	37	chr16	89877149	89877149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	attcttgacagaaggaaagaCgggagaacatactgtgtgcc	14	8	12	7	1	1	4	0	1	1	3	1	6	1	5	1	2	3	0	1	2	4	3	rs375648811		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr16:89877149C>T	ENST00000389301.3	-	5	518	c.488G>A	c.(487-489)cGt>cAt	p.R163H	FANCA_ENST00000563673.1_Missense_Mutation_p.R163H|FANCA_ENST00000389302.3_Missense_Mutation_p.R163H|FANCA_ENST00000543736.1_Intron|FANCA_ENST00000568369.1_Missense_Mutation_p.R163H|FANCA_ENST00000534992.1_Missense_Mutation_p.R163H	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	163					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R163H(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAAGGAAAGACGGGAGAACAT	0.373			"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	1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG,HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	107	108	108		488,488	4	0.8	16		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FANCA	NM_000135.2,NM_001018112.1	29,29	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	163/1456,163/298	89877149	2,12994	2198	4300	6498	SO:0001583	missense	0	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.488G>A	16.37:g.89877149C>T	ENSP00000373952:p.Arg163His		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.R163H	ENST00000389301.3	37	c.488	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753202	0.49362	2.27E-4	1.16E-4	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992	T;T;T	0.45668	0.89;0.89;0.89	4.96	4.01	0.46588	.	0.129460	0.35291	N	0.003307	T	0.60843	0.2300	M	0.71581	2.175	0.39878	D	0.973597	D;P;P;P;D	0.89917	1.0;0.779;0.779;0.779;1.0	D;B;B;B;D	0.87578	0.998;0.219;0.219;0.219;0.998	T	0.65504	-0.6152	10	0.72032	D	0.01	-14.5811	10.6982	0.45911	0.0:0.9094:0.0:0.0906	.	163;163;163;163;163	B4DRI7;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;FANCA_HUMAN	H	163	ENSP00000373952:R163H;ENSP00000373953:R163H;ENSP00000443675:R163H	ENSP00000373952:R163H	R	-	2	0	FANCA	88404650	0.973000	0.33851	0.843000	0.33291	0.057000	0.15508	2.457000	0.45005	1.233000	0.43693	0.650000	0.86243	CGT	FANCA	-	NULL	ENSG00000187741		0.373	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1		0	48	0	C			89877149	-1			no_errors	ENST00000389301	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.946	T	T	89877149	C	T	89877149	3	4	173	1	0	0	0	0	1	0	0	0	5684	536	19	1	4040	1	FANCA	16	89877149	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	17782517	89877149	477604	142	43476											
GEMIN4	50628	genome.wustl.edu	37	chr17	650493	650493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggccagtttgtccagatacaCggttgcagacacctcctggg	8	9	12	12	1	0	2	0	0	0	2	2	2	2	2	4	3	2	3	4	3	1	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr17:650493C>T	ENST00000319004.5	-	2	908	c.790G>A	c.(790-792)Gtg>Atg	p.V264M	GEMIN4_ENST00000576778.1_Missense_Mutation_p.V253M|GEMIN4_ENST00000437269.1_Silent_p.P176P	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	264					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCCAGATACACGGTTGCAGAC	0.612																																																	0													111	122	118					17																	650493		2171	4260	6431	SO:0001583	missense	0			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.790G>A	17.37:g.650493C>T	ENSP00000321706:p.Val264Met		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	NULL	p.V264M	ENST00000319004.5	37	c.790	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	C	1.846	-0.466137	0.04476	.	.	ENSG00000179409	ENST00000319004	T	0.15487	2.42	5.37	-5.6	0.02497	.	0.824381	0.11210	N	0.587780	T	0.11196	0.0273	L	0.46157	1.445	0.09310	N	0.999999	B	0.22480	0.07	B	0.21546	0.035	T	0.25082	-1.0142	10	0.33141	T	0.24	-7.2753	4.7135	0.12884	0.084:0.5928:0.1672:0.156	.	264	P57678	GEMI4_HUMAN	M	264	ENSP00000321706:V264M	ENSP00000321706:V264M	V	-	1	0	GEMIN4	597243	0.001000	0.12720	0.001000	0.08648	0.237000	0.25408	0.185000	0.16958	-1.393000	0.02079	-2.049000	0.00408	GTG	GEMIN4	-	NULL	ENSG00000179409		0.612	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1		0	38	0	C	NM_015721		650493	-1			no_errors	ENST00000319004	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.000	T	T	650493	C	T	650493	3	4	173	1	0	0	0	0	1	0	0	0	6356	536	19	1	2390	1	GEMIN4	17	650493	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09		650493	80544717	143	43477											
TP53	7157	genome.wustl.edu	37	chr17	7578469	7578469	+	Frame_Shift_Del	DEL	C	C	-																															ccatggcgcggacgcgggtgCcgggcgggggtgtggaatca																										TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr17:7578469delC	ENST00000269305.4	-	5	650	c.461delG	c.(460-462)ggcfs	p.G154fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.G154fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G154fs	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	154	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GACGCGGGTGCCGGGCGGGGG	0.607		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(62)|Deletion - Frameshift(14)|Whole gene deletion(8)|Insertion - In frame(5)|Unknown(5)|Deletion - In frame(4)	lung(34)|stomach(8)|oesophagus(8)|skin(7)|liver(6)|ovary(6)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(4)|breast(4)|central_nervous_system(2)|urinary_tract(2)|prostate(2)|pancreas(2)|thyroid(1)|soft_tissue(1)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)	GRCh37	CM951223	TP53	M							50	51	51					17																	7578469		2203	4300	6503	SO:0001589	frameshift_variant	0	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.461delG	17.37:g.7578469delC	ENSP00000269305:p.Gly154fs		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G154fs	ENST00000269305.4	37	c.461	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	34	0	C	NM_000546		7578469	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	33.33	14	7	DEL	0.872	-	-	7578469	C	-	7578469	7	5	173	1	0	1	0	1	0	0	0	0	16429	739	26	0	837	0	TP53	17	7578469	Frame_Shift_Del	DEL	C	TCGA-VR-AA4G-01A-11D-A37C-09	6927976	7578469	73616741	144	43478											
TP53	7157	genome.wustl.edu	37	chr17	7579406	7579406	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaagggacagaagatGacaggggccaggagggggct	11	4	20	6	0	1	3	0	1	1	2	1	6	1	6	1	7	0	1	1	7	2	0			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr17:7579406G>T	ENST00000269305.4	-	4	470	c.281C>A	c.(280-282)tCa>tAa	p.S94*	TP53_ENST00000359597.4_Nonsense_Mutation_p.S94*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S94*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S94*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.S94*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S94*	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	94	Interaction with WWOX.		S -> L (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S94*(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GACAGAAGATGACAGGGGCCA	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"	19	Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Nonsense(3)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|breast(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|liver(1)											46	50	49					17																	7579406		2203	4300	6503	SO:0001587	stop_gained	0	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.281C>A	17.37:g.7579406G>T	ENSP00000269305:p.Ser94*		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.S94*	ENST00000269305.4	37	c.281	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.295815	0.95574	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.41	4.41	0.53225	.	0.479162	0.22142	N	0.064035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4656	14.8839	0.70553	0.0:0.0:1.0:0.0	.	.	.	.	X	94	.	ENSP00000269305:S94X	S	-	2	0	TP53	7520131	1.000000	0.71417	0.997000	0.53966	0.824000	0.46624	6.829000	0.75314	2.450000	0.82876	0.561000	0.74099	TCA	TP53	-	NULL	ENSG00000141510		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	95	0	G	NM_000546		7579406	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	17.98	73	16	SNP	1.000	T	T	7579406	G	T	7579406	4	4	173	1	0	0	0	0	0	1	0	0	16429	1294	45	3	1021	3	TP53	17	7579406	Nonsense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	937	7579406	73615804	145	43479											
SLC5A10	125206	genome.wustl.edu	37	chr17	18862953	18862953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcactggcatgggtgttcGtgcccatctacatctcctca	6	12	10	13	1	3	0	1	0	2	0	5	0	3	0	2	3	2	3	2	3	1	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr17:18862953G>T	ENST00000395645.3	+	4	343	c.325G>T	c.(325-327)Gtg>Ttg	p.V109L	SLC5A10_ENST00000417251.2_Missense_Mutation_p.V109L|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V109L|SLC5A10_ENST00000317977.6_Missense_Mutation_p.V53L|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V53L|SLC5A10_ENST00000395643.2_Missense_Mutation_p.V109L	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	109					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						ATGGGTGTTCGTGCCCATCTA	0.602																																																	0													129	106	114					17																	18862953		2203	4300	6503	SO:0001583	missense	0				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.325G>T	17.37:g.18862953G>T	ENSP00000379007:p.Val109Leu		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V109L	ENST00000395645.3	37	c.325	CCDS42275.1	17	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243872	0.22796	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.90504	-2.68;-2.38;-2.68;-2.38;-2.38;-2.14	5.01	1.72	0.24424	.	0.068505	0.64402	D	0.000016	T	0.78091	0.4229	N	0.10972	0.075	0.54753	D	0.999988	B;B;B;B;B	0.26902	0.051;0.041;0.051;0.098;0.163	B;B;B;B;B	0.31686	0.134;0.082;0.134;0.082;0.128	T	0.64947	-0.6287	10	0.22706	T	0.39	.	6.3277	0.21253	0.1657:0.0:0.6866:0.1478	.	109;109;109;109;53	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	L	53;109;53;109;109;109	ENSP00000324346:V53L;ENSP00000379008:V109L;ENSP00000379004:V53L;ENSP00000401875:V109L;ENSP00000379007:V109L;ENSP00000379005:V109L	ENSP00000324346:V53L	V	+	1	0	SLC5A10	18803678	1.000000	0.71417	0.930000	0.37139	0.364000	0.29643	4.704000	0.61831	0.521000	0.28445	-0.258000	0.10820	GTG	SLC5A10	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000154025		0.602	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	HGNC	protein_coding	OTTHUMT00000132129.2	-	0	37	0	G	NM_152351		18862953	1	tier1	-	no_errors	ENST00000395647	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.996	T	T	18862953	G	T	18862953	3	4	173	1	0	0	0	0	1	0	0	0	14707	1145	40	2	339	2	SLC5A10	17	18862953	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	11283547	18862953	62332257	146	43480											
LGALS9	3965	genome.wustl.edu	37	chr17	25974143	25974143	+	Splice_Site	SNP	A	A	G	1	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	ctgtcctgcccagtgctcagAggtaagccaagggctccagt	8	8	12	13	0	1	1	1	0	0	1	3	1	3	1	4	2	3	3	4	2	2	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr17:25974143A>G	ENST00000395473.2	+	9	2225	c.757A>G	c.(757-759)Agg>Ggg	p.R253G	LGALS9_ENST00000313648.6_Splice_Site_p.R221G|LGALS9_ENST00000310394.5_Splice_Site_p.R209G|LGALS9_ENST00000302228.5_Splice_Site_p.R221G|LGALS9_ENST00000413914.2_Splice_Site_p.R196G	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	253	Galectin 2. {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)		CAGTGCTCAGAGGTAAGCCAA	0.577																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)												0													109	96	100					17																	25974143		2203	4300	6503	SO:0001630	splice_region_variant	0			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.758+1A>G	17.37:g.25974143A>G			A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.R253G	ENST00000395473.2	37	c.757	CCDS11222.1	17	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099132	0.56183	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394;ENST00000313648;ENST00000413914	T;T;T;T;T	0.26810	3.31;3.31;3.31;3.31;1.71	4.84	-2.63	0.06133	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.050307	0.64402	D	0.000001	T	0.27866	0.0686	M	0.81497	2.545	0.09310	N	0.999999	P;P;B;B;B	0.51653	0.947;0.905;0.002;0.026;0.012	P;P;B;B;B	0.47891	0.56;0.487;0.014;0.014;0.014	T	0.14420	-1.0473	10	0.52906	T	0.07	.	2.7454	0.05265	0.3689:0.4031:0.0899:0.1381	.	196;221;164;221;253	B4DWP7;F8W9W4;B4DJD7;Q3B8N1;O00182	.;.;.;.;LEG9_HUMAN	G	253;221;209;221;196	ENSP00000378856:R253G;ENSP00000306228:R221G;ENSP00000312259:R209G;ENSP00000318214:R221G;ENSP00000393695:R196G	ENSP00000306228:R221G	R	+	1	2	LGALS9	22998270	0.667000	0.27484	0.082000	0.20525	0.008000	0.06430	0.292000	0.19011	-0.078000	0.12730	-0.627000	0.03993	AGG	LGALS9	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	ENSG00000168961		0.577	LGALS9-001	KNOWN	basic|CCDS	protein_coding	LGALS9	HGNC	protein_coding	OTTHUMT00000255583.1	-	0	56	0	A	NM_009587	Missense_Mutation	25974143	1	tier1	-	no_errors	ENST00000395473	ensembl	human	known	74_37	missense	6.78	54	4	SNP	0.014	G	G	25974143	A	G	25974143	5	3	173	1	0	0	0	0	0	0	1	0	8777	318	11	4	791	4	LGALS9	17	25974143	Splice_Site	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	7111190	25974143	55221067	147	43481											
SUPT6H	6830	genome.wustl.edu	37	chr17	27020751	27020751	+	Missense_Mutation	SNP	A	A	T	1	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	cagcggttcgtgcccaggccAggccatcggtgtcaaaacac	9	6	12	14	3	1	0	1	0	0	0	3	0	1	0	3	4	3	1	3	4	2	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr17:27020751A>T	ENST00000314616.6	+	28	3954	c.3671A>T	c.(3670-3672)cAg>cTg	p.Q1224L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.Q1224L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1224	Interaction with KDM6A. {ECO:0000250}.|S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				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)					TGCCCAGGCCAGGCCATCGGT	0.507																																																	0													127	109	115					17																	27020751		2203	4300	6503	SO:0001583	missense	0			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.3671A>T	17.37:g.27020751A>T	ENSP00000319104:p.Gln1224Leu		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.Q1224L	ENST00000314616.6	37	c.3671	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	A	32	5.188724	0.94923	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.82	5.82	0.92795	RNA-binding domain, S1 (1);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	L	0.59436	1.845	0.80722	D	1	P	0.47350	0.894	B	0.42555	0.391	T	0.64279	-0.6445	9	0.66056	D	0.02	-20.9542	16.1848	0.81942	1.0:0.0:0.0:0.0	.	1224	Q7KZ85	SPT6H_HUMAN	L	1224	.	ENSP00000319104:Q1224L	Q	+	2	0	SUPT6H	24044878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.627000	0.90974	2.232000	0.73038	0.528000	0.53228	CAG	SUPT6H	-	smart_RNA-binding_domain_S1,pirsf_TF_Spt6	ENSG00000109111		0.507	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	57	0	A	NM_003170		27020751	1	tier1	-	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	14.58	41	7	SNP	1.000	T	T	27020751	A	T	27020751	3	4	173	1	0	0	0	0	1	0	0	0	15447	188	7	5	3777	5	SUPT6H	17	27020751	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	1046608	27020751	54174459	148	43482											
IKZF3	22806	genome.wustl.edu	37	chr17	37922218	37922218	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcggcagtggtcacaccgaTacacatccatcacctcccct	9	7	7	18	3	2	0	2	0	0	0	4	1	4	0	5	2	1	1	5	2	1	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr17:37922218T>C	ENST00000346872.3	-	8	1416	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	IKZF3_ENST00000439016.2_Missense_Mutation_p.Y357C|IKZF3_ENST00000394189.2_Missense_Mutation_p.Y270C|IKZF3_ENST00000583368.1_Missense_Mutation_p.Y205C|IKZF3_ENST00000439167.2_Missense_Mutation_p.Y379C|IKZF3_ENST00000377952.2_Missense_Mutation_p.Y231C|IKZF3_ENST00000346243.3_Missense_Mutation_p.Y374C|IKZF3_ENST00000467757.1_Missense_Mutation_p.Y396C|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000351680.3_Missense_Mutation_p.Y413C|IKZF3_ENST00000535189.1_Missense_Mutation_p.Y418C|IKZF3_ENST00000350532.3_Missense_Mutation_p.Y413C|IKZF3_ENST00000377958.2_Missense_Mutation_p.Y365C|IKZF3_ENST00000377945.3_Missense_Mutation_p.Y318C|IKZF3_ENST00000377944.3_Missense_Mutation_p.Y309C	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	452					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTCACACCGATACACATCCAT	0.552																																																	0													163	151	155					17																	37922218		2203	4300	6503	SO:0001583	missense	0			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.1355A>G	17.37:g.37922218T>C	ENSP00000344544:p.Tyr452Cys		B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y452C	ENST00000346872.3	37	c.1355	CCDS11346.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.94|17.94	3.510455|3.510455	0.64522|0.64522	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000439167;ENST00000439016|ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	.|T;T;T;T;T;T;T;T;T;T	.|0.37235	.|1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.51|5.51	3.17|3.17	0.36434|0.36434	.|Zinc finger, C2H2-like (1);	.|0.121905	.|0.37219	.|N	.|0.002185	T|T	0.68559|0.68559	0.3014|0.3014	H|H	0.96576|0.96576	3.845|3.845	0.45594|0.45594	D|D	0.998531|0.998531	.|D;D;D;D;D;D;P;D;D;D;D;D;D	.|0.76494	.|0.998;0.992;0.985;0.992;0.999;0.986;0.94;0.985;0.998;0.989;0.966;0.966;0.978	.|D;P;P;P;D;P;P;P;D;D;P;P;P	.|0.70935	.|0.937;0.79;0.667;0.79;0.971;0.899;0.844;0.667;0.914;0.914;0.844;0.736;0.882	T|T	0.75631|0.75631	-0.3251|-0.3251	5|10	.|0.87932	.|D	.|0	-6.7039|-6.7039	9.9944|9.9944	0.41891|0.41891	0.3452:0.0:0.0:0.6548|0.3452:0.0:0.0:0.6548	.|.	.|365;231;270;318;309;418;374;357;413;396;413;379;452	.|Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.|.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	V|C	367;406|452;357;318;270;309;365;231;418;413;374;413;396	.|ENSP00000367180:Y318C;ENSP00000377741:Y270C;ENSP00000367179:Y309C;ENSP00000367194:Y365C;ENSP00000367188:Y231C;ENSP00000438972:Y418C;ENSP00000345622:Y413C;ENSP00000341977:Y374C;ENSP00000344471:Y413C;ENSP00000420463:Y396C	.|ENSP00000341977:Y374C	I|Y	-|-	1|2	0|0	IKZF3|IKZF3	35175744|35175744	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.987000|0.987000	0.75469|0.75469	1.755000|1.755000	0.38379|0.38379	0.886000|0.886000	0.36113|0.36113	0.482000|0.482000	0.46254|0.46254	ATC|TAT	IKZF3	-	smart_Znf_C2H2-like	ENSG00000161405		0.552	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF3	HGNC	protein_coding	OTTHUMT00000257004.2	-	0	36	0	T	NM_012481		37922218	-1	tier1	-	no_errors	ENST00000346872	ensembl	human	known	74_37	missense	38.46	32	20	SNP	1.000	C	C	37922218	T	C	37922218	3	2	173	1	0	0	0	0	1	0	0	0	7643	1406	49	4	178	4	IKZF3	17	37922218	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	10901467	37922218	43272992	149	43483											
DCAKD	79877	genome.wustl.edu	37	chr17	43101979	43101979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccgagttgtctaggacatggCgggccatgcgggccttgtct	5	10	15	11	3	2	0	0	0	2	0	2	2	2	1	3	4	1	1	3	4	1	3	rs201376374		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr17:43101979C>T	ENST00000452796.2	-	4	773	c.518G>A	c.(517-519)cGc>cAc	p.R173H	DCAKD_ENST00000588499.1_Missense_Mutation_p.R173H|DCAKD_ENST00000342350.5_Missense_Mutation_p.R173H			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	173	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)	p.R173H(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				TAGGACATGGCGGGCCATGCG	0.647																																																	1	Substitution - Missense(1)	large_intestine(1)											69	63	65					17																	43101979		2203	4300	6503	SO:0001583	missense	0			BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.518G>A	17.37:g.43101979C>T	ENSP00000413483:p.Arg173His		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase	p.R173H	ENST00000452796.2	37	c.518	CCDS11493.1	17	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415957	0.25552	.	.	ENSG00000172992	ENST00000342350;ENST00000452796	T;T	0.41065	1.01;1.01	4.86	-2.19	0.07015	.	0.666589	0.16246	N	0.222902	T	0.13670	0.0331	N	0.01168	-0.975	0.40900	D	0.984143	B	0.09022	0.002	B	0.04013	0.001	T	0.05869	-1.0859	10	0.39692	T	0.17	-7.4621	8.7676	0.34713	0.0:0.239:0.1268:0.6342	.	173	Q8WVC6	DCAKD_HUMAN	H	173	ENSP00000341504:R173H;ENSP00000413483:R173H	ENSP00000341504:R173H	R	-	2	0	DCAKD	40457505	0.001000	0.12720	0.903000	0.35520	0.990000	0.78478	-0.215000	0.09279	-0.248000	0.09583	0.542000	0.68232	CGC	DCAKD	-	pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase	ENSG00000172992		0.647	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DCAKD	HGNC	protein_coding	OTTHUMT00000449066.1		0	92	0	C	NM_024819		43101979	-1			no_errors	ENST00000342350	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.512	T	T	43101979	C	T	43101979	3	4	173	1	0	0	0	0	1	0	0	0	4288	768	27	1	181	1	DCAKD	17	43101979	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	5179761	43101979	38093231	150	43484											
ABCA8	10351	genome.wustl.edu	37	chr17	66925797	66925797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tataacaagtgccaagaaaaGggccataatgaagatgaaac	20	6	9	6	0	0	4	0	2	0	2	0	4	0	4	2	1	3	0	2	1	9	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr17:66925797G>T	ENST00000269080.2	-	7	981	c.844C>A	c.(844-846)Ctt>Att	p.L282I	ABCA8_ENST00000430352.2_Missense_Mutation_p.L282I|ABCA8_ENST00000586539.1_Missense_Mutation_p.L282I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	282					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)					GCCAAGAAAAGGGCCATAATG	0.383																																																	0													85	81	82					17																	66925797		2203	4300	6503	SO:0001583	missense	0			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.844C>A	17.37:g.66925797G>T	ENSP00000269080:p.Leu282Ile		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L282I	ENST00000269080.2	37	c.844	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	G	2.635	-0.285537	0.05605	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.88277	-2.36;-2.36	4.75	-2.72	0.05968	.	0.479552	0.17627	N	0.167533	T	0.72803	0.3506	L	0.28054	0.825	0.09310	N	1	B;B;B;B;B	0.13594	0.002;0.005;0.008;0.002;0.002	B;B;B;B;B	0.16722	0.006;0.01;0.016;0.009;0.01	T	0.60388	-0.7273	10	0.02654	T	1	.	4.9544	0.14031	0.222:0.0:0.3452:0.4327	.	221;282;282;282;282	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	I	282;282;221	ENSP00000269080:L282I;ENSP00000402814:L282I	ENSP00000269080:L282I	L	-	1	0	ABCA8	64437392	0.000000	0.05858	0.026000	0.17262	0.880000	0.50808	-0.615000	0.05597	-0.167000	0.10871	-0.282000	0.10007	CTT	ABCA8	-	NULL	ENSG00000141338		0.383	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	-	0	47	0	G	NM_007168		66925797	-1	tier1	-	no_errors	ENST00000430352	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.005	T	T	66925797	G	T	66925797	3	4	173	1	0	0	0	0	1	0	0	0	38	1000	35	3	4029	3	ABCA8	17	66925797	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	23823818	66925797	14269413	151	43485											
PTPRM	5797	genome.wustl.edu	37	chr18	7955355	7955355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgctcctgaccaggccaGgggagggtggcactggctct	5	8	17	11	0	1	1	0	1	1	0	2	2	2	2	3	6	1	3	3	6	0	0			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr18:7955355G>T	ENST00000332175.8	+	7	2112	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W	PTPRM_ENST00000580170.1_Missense_Mutation_p.G359W|PTPRM_ENST00000444013.1_Missense_Mutation_p.G146W|PTPRM_ENST00000400053.4_Missense_Mutation_p.G297W|PTPRM_ENST00000400060.4_Missense_Mutation_p.G359W	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	359	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				GACCAGGCCAGGGGAGGGTGG	0.502																																																	0													55	58	57					18																	7955355		2203	4300	6503	SO:0001583	missense	0			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.1075G>T	18.37:g.7955355G>T	ENSP00000331418:p.Gly359Trp		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.G359W	ENST00000332175.8	37	c.1075	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	9.777	1.174151	0.21704	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.115331	0.64402	D	0.000010	D	0.95436	0.8518	M	0.86178	2.8	0.50813	D	0.999891	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.949;0.949	D	0.95168	0.8287	10	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	146;359;359	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	W	359;359;297;146	ENSP00000331418:G359W;ENSP00000382933:G359W;ENSP00000382927:G297W;ENSP00000387608:G146W	ENSP00000331418:G359W	G	+	1	0	PTPRM	7945355	1.000000	0.71417	0.970000	0.41538	0.523000	0.34469	4.978000	0.63799	2.865000	0.98341	0.655000	0.94253	GGG	PTPRM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000173482		0.502	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0	49	0	G			7955355	1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.997	T	T	7955355	G	T	7955355	3	4	173	1	0	0	0	0	1	0	0	0	12851	1000	35	3	1101	3	PTPRM	18	7955355	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		7955355	70121893	152	43486											
PTPRM	5797	genome.wustl.edu	37	chr18	8314802	8314802	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcattcccgagtgaggctgCagacaatagaaggagacaca	15	6	11	9	1	1	4	1	1	0	3	2	6	2	4	1	2	1	2	1	2	3	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr18:8314802C>T	ENST00000332175.8	+	19	3864	c.2827C>T	c.(2827-2829)Cag>Tag	p.Q943*	PTPRM_ENST00000580170.1_Nonsense_Mutation_p.Q956*|PTPRM_ENST00000444013.1_Nonsense_Mutation_p.Q730*|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.Q881*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.Q957*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	943	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)				AGTGAGGCTGCAGACAATAGA	0.358																																																	0													150	144	146					18																	8314802		2203	4300	6503	SO:0001587	stop_gained	0			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.2827C>T	18.37:g.8314802C>T	ENSP00000331418:p.Gln943*		A7MBN1|D3DUH8|J3QL11	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.Q957*	ENST00000332175.8	37	c.2869	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	C	50	16.295616	0.99859	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	5.86	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	16.9685	0.86293	0.0:0.8722:0.1278:0.0	.	.	.	.	X	943;957;881;730	.	ENSP00000331418:Q943X	Q	+	1	0	PTPRM	8304802	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.460000	0.73518	1.462000	0.47948	0.655000	0.94253	CAG	PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000173482		0.358	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0	53	0	C			8314802	1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	1.000	T	T	8314802	C	T	8314802	4	4	173	1	0	0	0	0	0	1	0	0	12851	711	25	3	2948	3	PTPRM	18	8314802	Nonsense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	359447	8314802	69762446	153	43487											
AFG3L2	10939	genome.wustl.edu	37	chr18	12351111	12351111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggagttaaagatgccaGttttcttgccaatttatcct	9	15	7	10	0	1	1	0	0	1	1	2	2	2	2	4	1	2	2	4	1	4	6	rs550200835		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr18:12351111G>T	ENST00000269143.3	-	12	1756	c.1525C>A	c.(1525-1527)Ctg>Atg	p.L509M		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	509					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)	AAAGATGCCAGTTTTCTTGCC	0.413																																																	0													121	113	116					18																	12351111		2203	4300	6503	SO:0001583	missense	0			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.1525C>A	18.37:g.12351111G>T	ENSP00000269143:p.Leu509Met		Q6P1L0	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.L509M	ENST00000269143.3	37	c.1525	CCDS11859.1	18	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417569	0.42918	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.82619	-1.63	6.03	5.16	0.70880	Peptidase M41, FtsH (2);	0.050922	0.85682	D	0.000000	D	0.83394	0.5245	M	0.81802	2.56	0.52501	D	0.999951	B	0.28082	0.2	B	0.25506	0.061	T	0.81093	-0.1089	10	0.35671	T	0.21	-29.7122	15.617	0.76775	0.0663:0.0:0.9337:0.0	.	509	Q9Y4W6	AFG32_HUMAN	M	509;524	ENSP00000269143:L509M	ENSP00000269143:L509M	L	-	1	2	AFG3L2	12341111	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	5.435000	0.66532	1.540000	0.49301	0.557000	0.71058	CTG	AFG3L2	-	superfamily_P-loop_NTPase,tigrfam_FtsH	ENSG00000141385		0.413	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	-	0	98	0	G	NM_006796		12351111	-1	tier1	-	no_errors	ENST00000269143	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	12351111	G	T	12351111	3	4	173	1	0	0	0	0	1	0	0	0	360	1020	36	3	892	3	AFG3L2	18	12351111	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	4036309	12351111	65726137	154	43488											
SEH1L	81929	genome.wustl.edu	37	chr18	12955479	12955479	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagacacatagtggatctgtAtggcgtgtgacatgggccca	10	9	13	9	1	1	2	0	1	1	1	1	3	1	3	1	3	0	1	1	3	2	2	rs140218685	byFrequency	TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr18:12955479A>G	ENST00000262124.11	+	3	307	c.180A>G	c.(178-180)gtA>gtG	p.V60V	SEH1L_ENST00000399892.2_Silent_p.V60V	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	60					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|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)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTGGATCTGTATGGCGTGTGA	0.398																																																	0								A	,	4,4402	8.1+/-20.4	0,4,2199	166	148	154		180,180	-1.1	1	18	dbSNP_134	154	29,8571	21.0+/-64.5	0,29,4271	no	coding-synonymous,coding-synonymous	SEH1L	NM_001013437.1,NM_031216.3	,	0,33,6470	GG,GA,AA		0.3372,0.0908,0.2537	,	60/422,60/361	12955479	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	0			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.180A>G	18.37:g.12955479A>G			A8K5B1|Q8NFU6|Q96MH3|Q9C069	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V60	ENST00000262124.11	37	c.180	CCDS45832.1	18																																																																																			SEH1L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085415		0.398	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEH1L	HGNC	protein_coding	OTTHUMT00000458254.1	-	0	74	0	A	NM_031216		12955479	1	tier1	rs140218685	no_errors	ENST00000399892	ensembl	human	known	74_37	silent	23.08	60	18	SNP	0.998	G	G	12955479	A	G	12955479	2	3	173	1	0	0	0	0	0	0	0	1	14054	436	16	4		4	SEH1L	18	12955479	Silent	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	604368	12955479	65121769	155	43489											
ROCK1	6093	genome.wustl.edu	37	chr18	18547850	18547850	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtgtattagctttctttcTatcaattttaaaatcttttc	9	23	3	6	0	4	0	1	0	3	0	5	0	4	0	0	0	1	2	0	0	6	10			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr18:18547850T>C	ENST00000399799.2	-	26	3995	c.3055A>G	c.(3055-3057)Aga>Gga	p.R1019G		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1019					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)					GCTTTCTTTCTATCAATTTTA	0.289																																																	0													93	92	92					18																	18547850		2202	4299	6501	SO:0001583	missense	0				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.3055A>G	18.37:g.18547850T>C	ENSP00000382697:p.Arg1019Gly		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R1019G	ENST00000399799.2	37	c.3055	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844206	0.32606	.	.	ENSG00000067900	ENST00000399799	T	0.14144	2.53	5.29	4.11	0.48088	.	0.051517	0.85682	D	0.000000	T	0.09862	0.0242	L	0.27053	0.805	0.39922	D	0.974163	B	0.06786	0.001	B	0.04013	0.001	T	0.15122	-1.0448	10	0.18276	T	0.48	.	12.5313	0.56117	0.0:0.0:0.1389:0.8611	.	1019	Q13464	ROCK1_HUMAN	G	1019	ENSP00000382697:R1019G	ENSP00000382697:R1019G	R	-	1	2	ROCK1	16801848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.089000	0.57685	0.812000	0.34326	0.477000	0.44152	AGA	ROCK1	-	pirsf_Rho-assoc_coiled-coil_kin	ENSG00000067900		0.289	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	-	0	50	0	T	NM_005406		18547850	-1	tier1	-	no_errors	ENST00000399799	ensembl	human	known	74_37	missense	30.51	41	18	SNP	1.000	C	C	18547850	T	C	18547850	3	2	173	1	0	0	0	0	1	0	0	0	13562	1530	53	4	1041	4	ROCK1	18	18547850	Missense_Mutation	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	5592371	18547850	59529398	156	43490											
OSBPL1A	114876	genome.wustl.edu	37	chr18	21746587	21746587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtcaggccgtaacctgCagtctgtcttgggaatcaca	9	11	11	10	1	4	1	2	1	2	0	4	2	4	2	2	2	2	2	2	2	2	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr18:21746587C>T	ENST00000319481.3	-	26	2821	c.2615G>A	c.(2614-2616)tGc>tAc	p.C872Y	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.C359Y|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.C490Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	872					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCGTAACCTGCAGTCTGTCTT	0.433																																																	0													213	187	196					18																	21746587		2203	4300	6503	SO:0001583	missense	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2615G>A	18.37:g.21746587C>T	ENSP00000320291:p.Cys872Tyr		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.C872Y	ENST00000319481.3	37	c.2615	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644140	0.47258	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.30714	1.52;1.52;1.52	5.68	5.68	0.88126	.	0.041257	0.85682	D	0.000000	T	0.65080	0.2657	M	0.91406	3.205	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.72301	-0.4334	10	0.87932	D	0	-19.8217	20.1412	0.98058	0.0:1.0:0.0:0.0	.	872	Q9BXW6	OSBL1_HUMAN	Y	872;359;490	ENSP00000320291:C872Y;ENSP00000382372:C359Y;ENSP00000349545:C490Y	ENSP00000320291:C872Y	C	-	2	0	OSBPL1A	20000585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.740000	0.84986	2.838000	0.97847	0.585000	0.79938	TGC	OSBPL1A	-	pfam_Oxysterol-bd	ENSG00000141447		0.433	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1		0	75	0	C	NM_080597		21746587	-1			no_errors	ENST00000319481	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	21746587	C	T	21746587	3	4	173	1	0	0	0	0	1	0	0	0	11316	710	25	3	249	3	OSBPL1A	18	21746587	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	3198737	21746587	56330661	157	43491											
MBD2	8932	genome.wustl.edu	37	chr18	51750584	51750585	+	In_Frame_Ins	INS	-	-	GCC																															ggggcgccgccgccaccgctINSgccgccgccgccgcagccgc																										TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr18:51750584_51750585insGCC	ENST00000256429.3	-	1	573_574	c.345_346insGGC	c.(343-348)ggcagc>ggcGGCagc	p.115_116insG	SNORA37_ENST00000384504.1_RNA|MBD2_ENST00000398398.2_In_Frame_Ins_p.115_116insG|MBD2_ENST00000583046.1_In_Frame_Ins_p.115_116insG	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	115	Gly-rich.|Necessary for interaction with DHX9.				ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		ccgccaccgctgccgccgccgc	0.861																																																	0																																										SO:0001652	inframe_insertion	0			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.343_345dupGGC	18.37:g.51750591_51750593dupGCC	ENSP00000256429:p.Gly119_Gly120dup		O95242|Q9UIS8	In_Frame_Ins	INS	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.115in_frame_insG	ENST00000256429.3	37	c.346_345	CCDS11953.1	18																																																																																			MBD2	-	NULL	ENSG00000134046		0.861	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD2	HGNC	protein_coding	OTTHUMT00000256003.2		0	11	0	-	NM_003927		51750585	-1	tier1		no_errors	ENST00000256429	ensembl	human	known	74_37	in_frame_ins	50.00	2	2	INS	0.957:0.926	GCC	GCC	51750585	-	GCC	51750584	7	5	173	1	0	1	1	0	0	0	0	0	9381	1580	55	0	1124	0	MBD2	18	51750584	In_Frame_Ins	INS	-	TCGA-VR-AA4G-01A-11D-A37C-09	30003997	51750584	26326664	158	43492											
ZCCHC2	54877	genome.wustl.edu	37	chr18	60242142	60242142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcacagcagcaacttctcCccagccagcgagcgcaggta	11	4	10	16	2	1	0	0	0	1	0	2	1	1	0	3	1	7	5	3	1	2	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr18:60242142C>T	ENST00000269499.5	+	13	3246	c.2828C>T	c.(2827-2829)cCc>cTc	p.P943L	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P622L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	943						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						GCAACTTCTCCCCAGCCAGCG	0.647																																																	0													59	65	63					18																	60242142		2138	4253	6391	SO:0001583	missense	0			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.2828C>T	18.37:g.60242142C>T	ENSP00000269499:p.Pro943Leu		B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.P943L	ENST00000269499.5	37	c.2828	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332245	0.41297	.	.	ENSG00000141664	ENST00000269499	T	0.26660	1.72	4.89	4.89	0.63831	.	0.990730	0.08216	N	0.979937	T	0.21962	0.0529	N	0.14661	0.345	0.45946	D	0.998777	B	0.17038	0.02	B	0.16722	0.016	T	0.07366	-1.0776	10	0.42905	T	0.14	-0.1946	18.4559	0.90720	0.0:1.0:0.0:0.0	.	943	Q9C0B9	ZCHC2_HUMAN	L	943	ENSP00000269499:P943L	ENSP00000269499:P943L	P	+	2	0	ZCCHC2	58393122	0.970000	0.33590	0.478000	0.27316	0.863000	0.49368	2.934000	0.48956	2.419000	0.82065	0.563000	0.77884	CCC	ZCCHC2	-	NULL	ENSG00000141664		0.647	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	-	0	41	0	C	NM_017742		60242142	1	tier1	-	no_errors	ENST00000269499	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.979	T	T	60242142	C	T	60242142	3	4	173	1	0	0	0	0	1	0	0	0	17635	623	22	3	2878	3	ZCCHC2	18	60242142	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	8491558	60242142	17835106	159	43493											
BSG	682	genome.wustl.edu	37	chr19	581392	581392	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctacacattgagaacctGaacatggaggccgaccccgg	12	5	12	12	2	0	2	0	2	0	1	0	6	0	3	4	3	4	1	4	3	3	2	rs147227117		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:581392G>C	ENST00000333511.3	+	6	940	c.870G>C	c.(868-870)ctG>ctC	p.L290L	BSG_ENST00000353555.4_Silent_p.L174L|BSG_ENST00000545507.2_Silent_p.L81L|BSG_ENST00000346916.4_Silent_p.L110L	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	290	Ig-like V-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAGAACCTGAACATGGAGG	0.647																																																	0													46	45	46					19																	581392		2202	4298	6500	SO:0001819	synonymous_variant	0			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.870G>C	19.37:g.581392G>C			A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L290	ENST00000333511.3	37	c.870	CCDS12033.1	19																																																																																			BSG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000172270		0.647	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	-	0	75	0	G	NM_001728		581392	1	tier1	-	no_errors	ENST00000333511	ensembl	human	known	74_37	silent	7.69	60	5	SNP	0.988	C	C	581392	G	C	581392	2	2	173	1	0	0	0	0	0	0	0	1	1533	1277	45	5		5	BSG	19	581392	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		581392	58547591	160	43494											
SBNO2	22904	genome.wustl.edu	37	chr19	1127692	1127692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	caggaagtcgggcgtgtccaCgatgtccgacagggagtcca	9	6	15	11	4	0	0	0	0	0	0	4	4	3	2	3	3	0	0	3	3	1	0	rs371469058		TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:1127692C>T	ENST00000361757.3	-	5	589	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	SBNO2_ENST00000587024.1_Missense_Mutation_p.V118M|SBNO2_ENST00000438103.2_Missense_Mutation_p.V61M	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	118					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)		GGCGTGTCCACGATGTCCGAC	0.607																																																	0								C	MET/VAL,MET/VAL	1,4239		0,1,2119	90	101	98		181,352	1.3	0	19		98	0,8468		0,0,4234	no	missense,missense	SBNO2	NM_001100122.1,NM_014963.2	21,21	0,1,6353	TT,TC,CC		0.0,0.0236,0.0079	benign,benign	61/1310,118/1367	1127692	1,12707	2120	4234	6354	SO:0001583	missense	0			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.352G>A	19.37:g.1127692C>T	ENSP00000354733:p.Val118Met		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.V118M	ENST00000361757.3	37	c.352	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860585	0.32884	2.36E-4	0.0	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.57	1.26	0.21427	.	1.176410	0.06435	U	0.724873	T	0.18130	0.0435	N	0.14661	0.345	0.09310	N	1	B;D;D;D	0.57257	0.021;0.964;0.964;0.979	B;B;B;B	0.41723	0.005;0.201;0.201;0.365	T	0.16217	-1.0410	9	0.41790	T	0.15	-2.7048	6.2305	0.20732	0.0:0.6912:0.1982:0.1106	.	61;118;118;61	B4DL53;B4DV91;Q9Y2G9;Q9Y2G9-3	.;.;SBNO2_HUMAN;.	M	118;61;75	.	ENSP00000250872:V75M	V	-	1	0	SBNO2	1078692	0.618000	0.27051	0.004000	0.12327	0.587000	0.36485	3.591000	0.53986	0.241000	0.21283	0.491000	0.48974	GTG	SBNO2	-	NULL	ENSG00000064932		0.607	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	-	0	67	0	C	NM_014963		1127692	-1	tier1	-	no_errors	ENST00000361757	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.043	T	T	1127692	C	T	1127692	3	4	173	1	0	0	0	0	1	0	0	0	13908	536	19	1	3860	1	SBNO2	19	1127692	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	546300	1127692	58001291	161	43495											
MUC16	94025	genome.wustl.edu	37	chr19	9018487	9018487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacttcctggagccagggcGatgcatgtcctcctcatact	8	10	10	13	1	1	0	1	0	0	0	4	3	4	1	4	2	4	1	4	2	2	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:9018487G>A	ENST00000397910.4	-	24	37890	c.37687C>T	c.(37687-37689)Cgc>Tgc	p.R12563C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12565	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						GAGCCAGGGCGATGCATGTCC	0.547																																																	0													227	195	206					19																	9018487		2019	4190	6209	SO:0001583	missense	0			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.37687C>T	19.37:g.9018487G>A	ENSP00000381008:p.Arg12563Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.R12563C	ENST00000397910.4	37	c.37687	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	3.562	-0.089368	0.07097	.	.	ENSG00000181143	ENST00000397910	T	0.29917	1.55	2.01	-0.51	0.11973	.	.	.	.	.	T	0.24851	0.0603	M	0.73962	2.25	.	.	.	B	0.32031	0.352	B	0.06405	0.002	T	0.28396	-1.0045	8	0.87932	D	0	.	2.7893	0.05383	0.1726:0.0:0.5576:0.2698	.	12563	B5ME49	.	C	12563	ENSP00000381008:R12563C	ENSP00000381008:R12563C	R	-	1	0	MUC16	8879487	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.521000	0.06245	-0.031000	0.13781	0.195000	0.17529	CGC	MUC16	-	pfam_SEA_dom	ENSG00000181143		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	130	0	G	NM_024690		9018487	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	7.69	84	7	SNP	0.000	A	A	9018487	G	A	9018487	3	1	173	1	0	0	0	0	1	0	0	0	10011	1058	37	1	6080	1	MUC16	19	9018487	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	7890795	9018487	50110496	162	43496											
MUC16	94025	genome.wustl.edu	37	chr19	9018524	9018524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaggttggtgatggtGaagttgagggtgaacagcac	10	11	15	5	0	1	4	1	4	0	0	1	4	1	4	0	4	3	3	0	4	3	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:9018524G>T	ENST00000397910.4	-	24	37853	c.37650C>A	c.(37648-37650)ttC>ttA	p.F12550L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12552	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						TGGTGATGGTGAAGTTGAGGG	0.493																																																	0													233	198	210					19																	9018524		1977	4177	6154	SO:0001583	missense	0			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.37650C>A	19.37:g.9018524G>T	ENSP00000381008:p.Phe12550Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.F12550L	ENST00000397910.4	37	c.37650	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	12.03	1.814830	0.32053	.	.	ENSG00000181143	ENST00000397910	T	0.49432	0.78	2.01	2.01	0.26516	.	.	.	.	.	T	0.67059	0.2853	M	0.88031	2.925	.	.	.	D	0.60575	0.988	D	0.65010	0.931	T	0.75130	-0.3426	8	0.87932	D	0	.	7.5334	0.27695	0.0:0.0:1.0:0.0	.	12550	B5ME49	.	L	12550	ENSP00000381008:F12550L	ENSP00000381008:F12550L	F	-	3	2	MUC16	8879524	1.000000	0.71417	0.998000	0.56505	0.307000	0.27823	1.950000	0.40323	1.428000	0.47296	0.195000	0.17529	TTC	MUC16	-	pfam_SEA_dom	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	116	0	G	NM_024690		9018524	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	6.59	85	6	SNP	1.000	T	T	9018524	G	T	9018524	3	4	173	1	0	0	0	0	1	0	0	0	10011	1281	45	3	6117	3	MUC16	19	9018524	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	37	9018524	50110459	163	43497											
DNAJB1	3337	genome.wustl.edu	37	chr19	14627668	14627668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagccacccatgcccataggGaagccagagaatgggtcatc	13	5	11	12	0	1	1	1	0	0	1	2	3	1	2	4	2	3	0	4	2	4	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:14627668G>T	ENST00000254322.2	-	2	472	c.402C>A	c.(400-402)ttC>ttA	p.F134L	DNAJB1_ENST00000396969.4_Missense_Mutation_p.F34L	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	134					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TGCCCATAGGGAAGCCAGAGA	0.572																																																	0													83	72	76					19																	14627668		2203	4300	6503	SO:0001583	missense	0			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"Heat shock proteins / DNAJ (HSP40)"	5270	protein-coding gene	gene with protein product	"radial spoke 16 homolog B (Chlamydomonas)"	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.402C>A	19.37:g.14627668G>T	ENSP00000254322:p.Phe134Leu		B4DX52	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.F134L	ENST00000254322.2	37	c.402	CCDS12312.1	19	.	.	.	.	.	.	.	.	.	.	g	14.14	2.447990	0.43429	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	T;T	0.59224	0.28;1.42	4.83	2.69	0.31865	.	0.274240	0.40640	N	0.001045	T	0.45316	0.1336	L	0.43554	1.36	0.58432	D	0.999999	P	0.50943	0.94	P	0.45449	0.481	T	0.38779	-0.9645	10	0.09590	T	0.72	.	7.8106	0.29228	0.2093:0.0:0.7907:0.0	.	134	P25685	DNJB1_HUMAN	L	134;34	ENSP00000254322:F134L;ENSP00000444212:F34L	ENSP00000254322:F134L	F	-	3	2	DNAJB1	14488668	0.473000	0.25878	1.000000	0.80357	0.964000	0.63967	-0.166000	0.09954	0.987000	0.38709	0.561000	0.74099	TTC	DNAJB1	-	NULL	ENSG00000132002		0.572	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB1	HGNC	protein_coding	OTTHUMT00000465987.1	-	0	44	0	G	NM_006145		14627668	-1	tier1	-	no_errors	ENST00000254322	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	14627668	G	T	14627668	3	4	173	1	0	0	0	0	1	0	0	0	4629	1165	41	3	628	3	DNAJB1	19	14627668	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	5609144	14627668	44501315	164	43498											
CYP4F12	66002	genome.wustl.edu	37	chr19	15795665	15795665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagatgaggatataagaGcagaggctgacaccttcatg	13	9	12	7	0	2	5	2	2	0	3	2	6	2	6	1	2	1	2	1	2	2	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:15795665G>T	ENST00000550308.1	+	8	1338	c.958G>T	c.(958-960)Gca>Tca	p.A320S	CYP4F12_ENST00000324632.10_Missense_Mutation_p.A320S	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	320					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GGATATAAGAGCAGAGGCTGA	0.522																																																	0													100	94	96					19																	15795665		2201	4300	6501	SO:0001583	missense	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.958G>T	19.37:g.15795665G>T	ENSP00000448998:p.Ala320Ser		E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.A320S	ENST00000550308.1	37	c.958	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	14.59	2.580781	0.46006	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.71934	-0.61;-0.61	2.58	2.58	0.30949	.	0.000000	0.64402	U	0.000003	T	0.80127	0.4566	M	0.68952	2.095	0.54753	D	0.999985	D	0.76494	0.999	D	0.81914	0.995	T	0.81929	-0.0708	10	0.72032	D	0.01	.	11.2806	0.49192	0.0:0.0:1.0:0.0	.	320	Q9HCS2	CP4FC_HUMAN	S	320	ENSP00000448998:A320S;ENSP00000321821:A320S	ENSP00000321821:A320S	A	+	1	0	CYP4F12	15656665	1.000000	0.71417	0.560000	0.28344	0.127000	0.20565	8.017000	0.88712	1.744000	0.51775	0.313000	0.20887	GCA	CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000186204		0.522	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	-	0	52	0	G			15795665	1	tier1	-	no_errors	ENST00000324632	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.994	T	T	15795665	G	T	15795665	3	4	173	1	0	0	0	0	1	0	0	0	4196	971	34	3	984	3	CYP4F12	19	15795665	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	1167997	15795665	43333318	165	43499											
ZNF536	9745	genome.wustl.edu	37	chr19	31039530	31039530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacagcattgcatggcacGgctgcttgttttgtgctttc	6	14	12	9	1	0	0	0	0	0	0	1	1	0	1	0	3	4	7	0	3	0	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:31039530G>T	ENST00000355537.3	+	4	3151	c.3004G>T	c.(3004-3006)Ggc>Tgc	p.G1002C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1002					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)					TGCATGGCACGGCTGCTTGTT	0.562																																																	0													75	70	72					19																	31039530		2203	4300	6503	SO:0001583	missense	0				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.3004G>T	19.37:g.31039530G>T	ENSP00000347730:p.Gly1002Cys		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1002C	ENST00000355537.3	37	c.3004	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405430	0.42715	.	.	ENSG00000198597	ENST00000355537	T	0.10192	2.9	5.82	4.79	0.61399	Zinc finger, C2H2-like (1);	0.098719	0.64402	D	0.000001	T	0.18002	0.0432	N	0.19112	0.55	0.58432	D	0.99999	D;D	0.76494	0.999;0.999	D;D	0.65010	0.931;0.931	T	0.03875	-1.0996	10	0.49607	T	0.09	-27.7127	14.7787	0.69749	0.069:0.0:0.931:0.0	.	1002;1002	A7E228;O15090	.;ZN536_HUMAN	C	1002	ENSP00000347730:G1002C	ENSP00000347730:G1002C	G	+	1	0	ZNF536	35731370	1.000000	0.71417	0.982000	0.44146	0.408000	0.30992	7.551000	0.82182	1.463000	0.47967	0.561000	0.74099	GGC	ZNF536	-	smart_Znf_C2H2-like	ENSG00000198597		0.562	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2		0	32	0	G	NM_014717		31039530	1			no_errors	ENST00000355537	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	31039530	G	T	31039530	3	4	173	1	0	0	0	0	1	0	0	0	18022	1116	39	2	3014	2	ZNF536	19	31039530	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	15243865	31039530	28089453	166	43500											
DPY19L3	147991	genome.wustl.edu	37	chr19	32968498	32968498	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggagtcaagctgtgcacgGgaaggaccctaaccaaccac	12	4	11	14	2	1	0	1	0	0	0	1	3	1	3	4	3	4	2	4	3	4	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:32968498G>T	ENST00000342179.5	+	17	1983	c.1768G>T	c.(1768-1770)Gga>Tga	p.G590*	DPY19L3_ENST00000392250.2_Nonsense_Mutation_p.G590*|DPY19L3_ENST00000586987.1_Nonsense_Mutation_p.G590*	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	590						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GCTGTGCACGGGAAGGACCCT	0.567																																																	0													132	112	119					19																	32968498		2203	4300	6503	SO:0001587	stop_gained	0				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1768G>T	19.37:g.32968498G>T	ENSP00000344937:p.Gly590*		Q68DC7|Q6ZTB7|Q6ZTS2	Nonsense_Mutation	SNP	pfam_Dpy-19	p.G590*	ENST00000342179.5	37	c.1768	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	G	40	8.066456	0.98638	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-15.9982	19.1561	0.93510	0.0:0.0:1.0:0.0	.	.	.	.	X	590	.	ENSP00000344937:G590X	G	+	1	0	DPY19L3	37660338	1.000000	0.71417	0.427000	0.26684	0.837000	0.47467	9.869000	0.99810	2.530000	0.85305	0.563000	0.77884	GGA	DPY19L3	-	pfam_Dpy-19	ENSG00000178904		0.567	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	HGNC	protein_coding	OTTHUMT00000450311.1	-	0	62	0	G	NM_207325		32968498	1	tier1	-	no_errors	ENST00000342179	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	32968498	G	T	32968498	4	4	173	1	0	0	0	0	0	1	0	0	4756	1233	43	3	1830	3	DPY19L3	19	32968498	Nonsense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	1928968	32968498	26160485	167	43501											
SERTAD3	29946	genome.wustl.edu	37	chr19	40947446	40947446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagttcattccactccCaagaacctggggcacagaag	12	7	9	13	0	1	2	1	0	0	2	4	3	4	2	4	2	1	2	4	2	3	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:40947446C>G	ENST00000322354.3	-	2	1038	c.542G>C	c.(541-543)tGg>tCg	p.W181S	SERTAD3_ENST00000392028.4_Missense_Mutation_p.W181S|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000601217.1_5'Flank	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	181					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATTCCACTCCCAAGAACCTGG	0.522																																																	0													96	101	100					19																	40947446		2203	4300	6503	SO:0001583	missense	0			AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"RPA-binding trans-activator"	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.542G>C	19.37:g.40947446C>G	ENSP00000325414:p.Trp181Ser		B3KQB3|Q96CQ2	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.W181S	ENST00000322354.3	37	c.542	CCDS12558.1	19	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065636	0.55539	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	6.0	6.0	0.97389	.	0.100954	0.43416	D	0.000565	T	0.48786	0.1519	N	0.08118	0	0.58432	D	0.999999	D	0.76494	0.999	D	0.66716	0.946	T	0.39563	-0.9608	9	0.07813	T	0.8	1.9978	15.995	0.80232	0.0:1.0:0.0:0.0	.	181	Q9UJW9	SRTD3_HUMAN	S	181	.	ENSP00000325414:W181S	W	-	2	0	SERTAD3	45639286	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.274000	0.51631	2.848000	0.98002	0.655000	0.94253	TGG	SERTAD3	-	NULL	ENSG00000167565		0.522	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SERTAD3	HGNC	protein_coding	OTTHUMT00000462573.1	-	0	39	0	C	NM_013368		40947446	-1	tier1	-	no_errors	ENST00000322354	ensembl	human	known	74_37	missense	22.58	24	7	SNP	1.000	G	G	40947446	C	G	40947446	3	3	173	1	0	0	0	0	1	0	0	0	14167	595	21	5	52	5	SERTAD3	19	40947446	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	7978948	40947446	18181537	168	43502											
ZNF225	7768	genome.wustl.edu	37	chr19	44636226	44636226	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaaaccatttaaatgtGaagaatgtgggaaaagattt	19	10	10	2	0	0	4	0	1	0	3	0	6	0	5	1	1	1	0	1	1	8	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:44636226G>T	ENST00000262894.6	+	5	1739	c.1459G>T	c.(1459-1461)Gaa>Taa	p.E487*	ZNF225_ENST00000590612.1_Nonsense_Mutation_p.E487*|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	487					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)				ATTTAAATGTGAAGAATGTGG	0.398																																																	0													64	70	68					19																	44636226		2193	4297	6490	SO:0001587	stop_gained	0			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.1459G>T	19.37:g.44636226G>T	ENSP00000262894:p.Glu487*		A8K8S2|Q53F12|Q9NS46|Q9UID8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E487*	ENST00000262894.6	37	c.1459	CCDS46100.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.681787	0.97759	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	.	.	.	2.89	0.685	0.18009	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	2.394	0.04385	0.2878:0.0:0.3371:0.3751	.	.	.	.	X	487;451	.	ENSP00000262894:E487X	E	+	1	0	ZNF225	49328066	0.000000	0.05858	0.072000	0.20136	0.931000	0.56810	-2.173000	0.01265	0.485000	0.27652	0.561000	0.74099	GAA	ZNF225	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256294		0.398	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF225	HGNC	protein_coding	OTTHUMT00000460581.1	-	0	70	0	G			44636226	1	tier1	-	no_errors	ENST00000262894	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	0.006	T	T	44636226	G	T	44636226	4	4	173	1	0	0	0	0	0	1	0	0	17827	1291	45	3	1473	3	ZNF225	19	44636226	Nonsense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	3688780	44636226	14492757	169	43503											
RELB	5971	genome.wustl.edu	37	chr19	45528625	45528625	+	Missense_Mutation	SNP	A	A	G	1	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	ccagtgtgtgaggaagaaggAgattgaggctgccattgagc	11	8	16	6	0	0	5	0	3	0	2	0	7	0	6	2	3	2	1	2	3	2	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:45528625A>G	ENST00000221452.8	+	6	851	c.701A>G	c.(700-702)gAg>gGg	p.E234G	RELB_ENST00000540120.1_Missense_Mutation_p.E234G|RELB_ENST00000505236.1_Missense_Mutation_p.E231G	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	234	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)		AGGAAGAAGGAGATTGAGGCT	0.587																																																	0													87	98	94					19																	45528625		2083	4214	6297	SO:0001583	missense	0			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.701A>G	19.37:g.45528625A>G	ENSP00000221452:p.Glu234Gly		Q6GTX7|Q9UEI7	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.E234G	ENST00000221452.8	37	c.701	CCDS46110.1	19	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555319	0.86231	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.49432	0.78;0.78;0.78	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	L	0.46157	1.445	0.80722	D	1	D	0.63880	0.993	P	0.58620	0.842	T	0.60167	-0.7316	10	0.87932	D	0	-2.4835	12.7194	0.57134	1.0:0.0:0.0:0.0	.	231	D6R992	.	G	234;234;231	ENSP00000221452:E234G;ENSP00000445542:E234G;ENSP00000423287:E231G	ENSP00000221452:E234G	E	+	2	0	RELB	50220465	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.979000	0.76154	2.108000	0.64289	0.533000	0.62120	GAG	RELB	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000104856		0.587	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	-	0	55	0	A			45528625	1	tier1	-	no_errors	ENST00000221452	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	G	G	45528625	A	G	45528625	3	3	173	1	0	0	0	0	1	0	0	0	13262	304	11	4	715	4	RELB	19	45528625	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	892399	45528625	13600358	170	43504											
SLC8A2	6543	genome.wustl.edu	37	chr19	47969220	47969220	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggccgcagacttcgatGactgacagcaggatctcagg	9	9	13	10	2	1	3	1	2	1	1	3	5	1	4	1	3	1	2	1	3	0	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:47969220G>T	ENST00000236877.6	-	2	836	c.441C>A	c.(439-441)gtC>gtA	p.V147V	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	147					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGACTTCGATGACTGACAGCA	0.622																																																	0													57	45	49					19																	47969220		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.441C>A	19.37:g.47969220G>T			B4DYQ9	Silent	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.V147	ENST00000236877.6	37	c.441	CCDS33065.1	19																																																																																			SLC8A2	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex	ENSG00000118160		0.622	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	-	0	37	0	G			47969220	-1	tier1	-	no_errors	ENST00000236877	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	T	T	47969220	G	T	47969220	2	4	173	1	0	0	0	0	0	0	0	1	14752	1277	45	3		3	SLC8A2	19	47969220	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	2440595	47969220	11159763	171	43505											
KCNA7	3743	genome.wustl.edu	37	chr19	49573965	49573965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacaaaatcgatgaggttCatcacgttcttgaagaagat	14	10	9	8	2	3	4	2	2	1	2	4	5	3	4	1	1	0	2	1	1	4	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:49573965C>T	ENST00000221444.1	-	2	1081	c.726G>A	c.(724-726)atG>atA	p.M242I		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	242					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CGATGAGGTTCATCACGTTCT	0.562																																					Colon(74;686 1235 3793 23366 48562)												0													150	113	126					19																	49573965		2203	4300	6503	SO:0001583	missense	0			AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.726G>A	19.37:g.49573965C>T	ENSP00000221444:p.Met242Ile		A1KYX7|Q9BYS4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1	p.M242I	ENST00000221444.1	37	c.726	CCDS12755.1	19	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415934	0.83449	.	.	ENSG00000104848	ENST00000221444	D	0.98400	-4.91	4.49	4.49	0.54785	Ion transport (1);	0.042128	0.85682	D	0.000000	D	0.98934	0.9638	M	0.87547	2.89	0.58432	D	0.999998	P	0.52170	0.951	D	0.66351	0.943	D	0.99686	1.1000	10	0.87932	D	0	.	16.3041	0.82841	0.0:1.0:0.0:0.0	.	242	Q96RP8	KCNA7_HUMAN	I	242	ENSP00000221444:M242I	ENSP00000221444:M242I	M	-	3	0	KCNA7	54265777	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.073000	0.71245	2.234000	0.73211	0.313000	0.20887	ATG	KCNA7	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000104848		0.562	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA7	HGNC	protein_coding	OTTHUMT00000466263.1	-	0	54	0	C	NM_031886		49573965	-1	tier1	-	no_errors	ENST00000221444	ensembl	human	known	74_37	missense	26.15	48	17	SNP	1.000	T	T	49573965	C	T	49573965	3	4	173	1	0	0	0	0	1	0	0	0	8035	826	29	3	648	3	KCNA7	19	49573965	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	1604745	49573965	9555018	172	43506											
KLK11	11012	genome.wustl.edu	37	chr19	51525866	51525866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactttcgtgtagacaccagGctttcgggtgatcgcacacg	8	10	12	11	4	0	2	0	1	0	1	3	3	0	2	1	2	0	3	1	2	1	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:51525866G>A	ENST00000594768.1	-	6	969	c.784C>T	c.(784-786)Cct>Tct	p.P262S	KLK11_ENST00000319720.7_Missense_Mutation_p.P230S|KLK11_ENST00000600362.1_Missense_Mutation_p.P89S|KLK11_ENST00000594458.1_5'Flank|KLK10_ENST00000358789.3_5'Flank|KLK10_ENST00000309958.3_5'Flank|KLK11_ENST00000391804.3_Missense_Mutation_p.P255S|KLK10_ENST00000391805.1_5'Flank|KLK11_ENST00000453757.3_Missense_Mutation_p.P230S	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	262	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TAGACACCAGGCTTTCGGGTG	0.567																																																	0													171	158	163					19																	51525866		2203	4300	6503	SO:0001583	missense	0			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"Kallikreins", "Serine peptidases / Serine peptidases"	6359	protein-coding gene	gene with protein product		604434	"kallikrein 11"	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.784C>T	19.37:g.51525866G>A	ENSP00000473047:p.Pro262Ser		O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.P262S	ENST00000594768.1	37	c.784	CCDS12818.1	19	.	.	.	.	.	.	.	.	.	.	g	19.99	3.928300	0.73327	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.95307	-3.67;-3.67;-3.67	4.42	4.42	0.53409	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.36555	U	0.002537	D	0.97804	0.9279	M	0.93854	3.465	0.49798	D	0.999824	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98708	1.0703	10	0.87932	D	0	.	14.5583	0.68118	0.0:0.0:1.0:0.0	.	262;255	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	S	255;230;230;262	ENSP00000375680:P255S;ENSP00000324269:P230S;ENSP00000413958:P230S	ENSP00000324269:P230S	P	-	1	0	KLK11	56217678	1.000000	0.71417	0.984000	0.44739	0.599000	0.36880	9.050000	0.93843	2.306000	0.77630	0.305000	0.20034	CCT	KLK11	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167757		0.567	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	HGNC	protein_coding	OTTHUMT00000464314.2	-	0	27	0	G	NM_006853		51525866	-1	tier1	-	no_errors	ENST00000594768	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A	A	51525866	G	A	51525866	3	1	173	1	0	0	0	0	1	0	0	0	8426	1203	42	3	68	3	KLK11	19	51525866	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	1951901	51525866	7603117	173	43507											
ZNF611	81856	genome.wustl.edu	37	chr19	53209056	53209056	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctttgcagtatgaattcTtctatgtcgagccagctgtg	7	17	9	8	1	3	1	0	1	3	0	4	2	3	1	1	0	3	3	1	0	3	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr19:53209056T>G	ENST00000319783.1	-	7	1568	c.1252A>C	c.(1252-1254)Aga>Cga	p.R418R	ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000595798.1_Silent_p.R349R|ZNF611_ENST00000540744.1_Silent_p.R418R|ZNF611_ENST00000453741.2_Silent_p.R349R|ZNF611_ENST00000543227.1_Silent_p.R418R|ZNF611_ENST00000602162.1_Silent_p.R349R	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	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(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GTATGAATTCTTCTATGTCGA	0.408																																																	0													101	97	98					19																	53209056		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1252A>C	19.37:g.53209056T>G			B3KRD5|Q69YG9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R418	ENST00000319783.1	37	c.1252	CCDS12855.1	19																																																																																			ZNF611	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213020		0.408	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1		0	67	0	T	NM_030972		53209056	-1			no_errors	ENST00000319783	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.678	G	G	53209056	T	G	53209056	2	3	173	1	0	0	0	0	0	0	0	1	18085	1617	56	4		4	ZNF611	19	53209056	Silent	SNP	T	TCGA-VR-AA4G-01A-11D-A37C-09	1683190	53209056	5919927	174	43508											
VPS16	64601	genome.wustl.edu	37	chr20	2844831	2844831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctcacctcacagctgctgGagtatgagccacgctcaggg	8	9	11	13	1	3	1	3	1	1	0	4	2	3	2	2	2	3	4	2	2	1	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr20:2844831G>A	ENST00000380445.3	+	17	1690	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	VPS16_ENST00000380469.3_Missense_Mutation_p.E396K|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380443.3_Missense_Mutation_p.E226K|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	540					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ACAGCTGCTGGAGTATGAGCC	0.582																																																	0													53	55	54					20																	2844831		2203	4300	6503	SO:0001583	missense	0			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1618G>A	20.37:g.2844831G>A	ENSP00000369810:p.Glu540Lys		Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.E540K	ENST00000380445.3	37	c.1618	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003102	0.93287	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.46063	0.88;0.88;0.88	5.2	5.2	0.72013	Vps16, C-terminal (1);	0.049844	0.85682	D	0.000000	T	0.57989	0.2091	M	0.66439	2.03	0.80722	D	1	P;P;D;P	0.60575	0.856;0.945;0.988;0.945	P;P;P;P	0.57468	0.652;0.821;0.794;0.821	T	0.58918	-0.7551	10	0.52906	T	0.07	-31.0692	16.2695	0.82607	0.0:0.0:1.0:0.0	.	16;226;396;540	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	K	540;396;226	ENSP00000369810:E540K;ENSP00000369836:E396K;ENSP00000369808:E226K	ENSP00000369808:E226K	E	+	1	0	VPS16	2792831	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.722000	0.91452	2.706000	0.92434	0.561000	0.74099	GAG	VPS16	-	pfam_Vps16_C,pirsf_VPS16	ENSG00000215305		0.582	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	-	0	96	0	G	NM_022575		2844831	1	tier1	-	no_errors	ENST00000380445	ensembl	human	known	74_37	missense	27.91	62	24	SNP	1.000	A	A	2844831	G	A	2844831	3	1	173	1	0	0	0	0	1	0	0	0	17242	1175	41	3	1684	3	VPS16	20	2844831	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		2844831	60180689	175	43509											
RIN2	54453	genome.wustl.edu	37	chr20	19956307	19956307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcaggagaacaaggagtgCcacgtgtccagcaccgacat	12	5	12	12	2	0	1	0	0	0	1	1	4	1	2	3	2	4	2	3	2	2	0			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr20:19956307C>T	ENST00000255006.6	+	8	1934	c.1785C>T	c.(1783-1785)tgC>tgT	p.C595C	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	546					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)	p.C546C(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ACAAGGAGTGCCACGTGTCCA	0.582																																																	1	Substitution - coding silent(1)	large_intestine(1)											45	50	48					20																	19956307		2151	4246	6397	SO:0001819	synonymous_variant	0			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.1785C>T	20.37:g.19956307C>T			Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.C595	ENST00000255006.6	37	c.1785	CCDS56182.1	20																																																																																			RIN2	-	NULL	ENSG00000132669		0.582	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1		0	64	0	C			19956307	1			no_errors	ENST00000255006	ensembl	human	known	74_37	silent	6.25	45	3	SNP	1.000	T	T	19956307	C	T	19956307	2	4	173	1	0	0	0	0	0	0	0	1	13417	747	26	3		3	RIN2	20	19956307	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	17111476	19956307	43069213	176	43510											
C20orf26	26074	genome.wustl.edu	37	chr20	20258012	20258012	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actatgtaccgggatgcgatCctggcccagtggaatgacgg	9	8	14	10	3	0	1	0	1	0	0	1	4	1	3	3	4	2	1	3	4	3	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr20:20258012C>A	ENST00000245957.5	+	22	2782	c.2706C>A	c.(2704-2706)atC>atA	p.I902I	C20orf26_ENST00000377309.2_Silent_p.I258I	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		902										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)		GGGATGCGATCCTGGCCCAGT	0.627																																																	0													114	104	107					20																	20258012		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000245957.5:c.2706C>A	20.37:g.20258012C>A			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	superfamily_Acyl_CoA_acyltransferase	p.I902	ENST00000245957.5	37	c.2706	CCDS33447.1	20																																																																																			C20orf26	-	NULL	ENSG00000089101		0.627	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	-	0	38	0	C			20258012	1	tier1	-	no_errors	ENST00000245957	ensembl	human	known	74_37	silent	33.33	30	15	SNP	0.152	A	A	20258012	C	A	20258012	2	1	173	1	0	0	0	0	0	0	0	1	2113	845	30	3		3	C20orf26	20	20258012	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	301705	20258012	42767508	177	43511											
SERINC3	10955	genome.wustl.edu	37	chr20	43133460	43133460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	accaggttcattggacatggCtgaccaggtgaggtacatag	11	9	13	8	0	1	2	1	2	0	0	1	3	1	3	2	5	1	3	2	5	2	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr20:43133460C>T	ENST00000342374.4	-	7	1013	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	SERINC3_ENST00000255175.1_Missense_Mutation_p.A286T|SERINC3_ENST00000541235.1_Missense_Mutation_p.A231T	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	286					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)			TTGGACATGGCTGACCAGGTG	0.443																																																	0													132	113	119					20																	43133460		2203	4300	6503	SO:0001583	missense	0			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.856G>A	20.37:g.43133460C>T	ENSP00000340243:p.Ala286Thr		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	pfam_TMS_TDE	p.A286T	ENST00000342374.4	37	c.856	CCDS13333.1	20	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812659	0.90707	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.14	5.14	0.70334	.	0.096186	0.64402	D	0.000001	T	0.64068	0.2565	M	0.93978	3.48	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.71414	0.91;0.973	T	0.73297	-0.4027	10	0.87932	D	0	.	13.713	0.62680	0.154:0.846:0.0:0.0	.	286;286	Q53GK8;Q13530	.;SERC3_HUMAN	T	25;286;286;253;231	ENSP00000414197:A25T;ENSP00000255175:A286T;ENSP00000340243:A286T;ENSP00000440966:A231T	ENSP00000255175:A286T	A	-	1	0	SERINC3	42566874	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.702000	0.68332	2.657000	0.90304	0.591000	0.81541	GCC	SERINC3	-	pfam_TMS_TDE	ENSG00000132824		0.443	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3		0	53	0	C	NM_006811		43133460	-1			no_errors	ENST00000255175	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	43133460	C	T	43133460	3	4	173	1	0	0	0	0	1	0	0	0	14126	797	28	3	581	3	SERINC3	20	43133460	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	22875448	43133460	19892060	178	43512											
PMEPA1	56937	genome.wustl.edu	37	chr20	56284579	56284579	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagttgcacgtgcaggaGacattgggctgcccggcggc	6	8	16	11	3	0	1	0	0	0	1	0	2	0	1	1	4	4	5	1	4	0	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr20:56284579G>A	ENST00000341744.3	-	1	379	c.60C>T	c.(58-60)gtC>gtT	p.V20V	PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000265626.4_Intron|PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000472841.1_Intron	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	20					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						ACGTGCAGGAGACATTGGGCT	0.716																																																	0													30	26	28					20																	56284579		2178	4273	6451	SO:0001819	synonymous_variant	0			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.60C>T	20.37:g.56284579G>A			Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Silent	SNP	NULL	p.V20	ENST00000341744.3	37	c.60	CCDS13463.1	20																																																																																			PMEPA1	-	NULL	ENSG00000124225		0.716	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEPA1	HGNC	protein_coding	OTTHUMT00000079858.2	-	0	71	0	G	NM_020182		56284579	-1	tier1	-	no_errors	ENST00000341744	ensembl	human	known	74_37	silent	26.15	48	17	SNP	1.000	A	A	56284579	G	A	56284579	2	1	173	1	0	0	0	0	0	0	0	1	12171	929	33	3		3	PMEPA1	20	56284579	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	13151119	56284579	6740941	179	43513											
CHODL	140578	genome.wustl.edu	37	chr21	19635169	19635169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctgctcttactgatactGgttgcttttggaacctgttg	5	16	9	11	0	1	1	0	1	1	0	1	2	1	2	3	2	5	4	3	2	3	6			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr21:19635169G>A	ENST00000299295.2	+	5	1087	c.696G>A	c.(694-696)ctG>ctA	p.L232L	CHODL_ENST00000543733.1_Silent_p.L213L|CHODL_ENST00000400128.1_Silent_p.L191L|CHODL_ENST00000400131.1_Intron|CHODL_ENST00000400135.1_Intron|CHODL_ENST00000400127.1_Silent_p.L191L|CHODL_ENST00000338326.3_Intron	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	232					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)	p.L232L(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TACTGATACTGGTTGCTTTTG	0.313																																																	1	Substitution - coding silent(1)	lung(1)											127	127	127					21																	19635169		2203	4297	6500	SO:0001819	synonymous_variant	0			AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"chromosome 21 open reading frame 68"	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.696G>A	21.37:g.19635169G>A			B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L232	ENST00000299295.2	37	c.696	CCDS13570.1	21																																																																																			CHODL	-	NULL	ENSG00000154645		0.313	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHODL	HGNC	protein_coding	OTTHUMT00000158232.1	-	0	67	0	G	NM_024944		19635169	1	tier1	-	no_errors	ENST00000299295	ensembl	human	known	74_37	silent	20.63	50	13	SNP	1.000	A	A	19635169	G	A	19635169	2	1	173	1	0	0	0	0	0	0	0	1	3371	1335	47	3		3	CHODL	21	19635169	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		19635169	28494726	180	43514											
LCA5L	150082	genome.wustl.edu	37	chr21	40783654	40783654	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	taaaacataccttttggataGtcctctgtgtcatgtaaatt	12	16	6	7	0	2	0	1	0	1	0	3	1	3	1	2	1	2	1	2	1	6	7			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr21:40783654G>T	ENST00000358268.2	-	7	1578	c.1050C>A	c.(1048-1050)gaC>gaA	p.D350E	LCA5L_ENST00000380671.2_Missense_Mutation_p.D350E|LCA5L_ENST00000495240.1_5'Flank|LCA5L_ENST00000288350.3_Missense_Mutation_p.D350E|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	350										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTTTTGGATAGTCCTCTGTGT	0.264																																																	0													69	69	69					21																	40783654		2201	4295	6496	SO:0001583	missense	0			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 13"	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1050C>A	21.37:g.40783654G>T	ENSP00000351008:p.Asp350Glu		D3DSI0|Q3ZCT0	Missense_Mutation	SNP	NULL	p.D350E	ENST00000358268.2	37	c.1050	CCDS13665.1	21	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734356	0.30774	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.56103	0.48;0.48;0.48	5.52	-5.13	0.02884	.	0.414780	0.24659	N	0.036650	T	0.38268	0.1034	M	0.63843	1.955	0.26266	N	0.97851	B	0.27997	0.197	B	0.28465	0.09	T	0.32052	-0.9921	10	0.22109	T	0.4	-21.9336	6.8374	0.23943	0.345:0.3576:0.2974:0.0	.	350	O95447	LCA5L_HUMAN	E	350	ENSP00000288350:D350E;ENSP00000370046:D350E;ENSP00000351008:D350E	ENSP00000288350:D350E	D	-	3	2	LCA5L	39705524	0.032000	0.19561	0.558000	0.28319	0.728000	0.41692	-1.222000	0.02965	-0.460000	0.07003	-0.312000	0.09012	GAC	LCA5L	-	NULL	ENSG00000157578		0.264	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	-	0	81	0	G	NM_152505		40783654	-1	tier1	-	no_errors	ENST00000288350	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.521	T	T	40783654	G	T	40783654	3	4	173	1	0	0	0	0	1	0	0	0	8685	1020	36	3	978	3	LCA5L	21	40783654	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	21148485	40783654	7346241	181	43515											
TOP3B	8940	genome.wustl.edu	37	chr22	22326273	22326273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagatgttctccccctcCttgtcgcagtccagccacag	8	9	8	16	1	1	1	0	0	1	1	5	1	3	1	5	0	2	3	5	0	1	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr22:22326273C>A	ENST00000398793.2	-	5	794	c.360G>T	c.(358-360)aaG>aaT	p.K120N	TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Missense_Mutation_p.K120N	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	120	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCTCCCCCTCCTTGTCGCAGT	0.577																																																	0													256	140	179					22																	22326273		2203	4300	6503	SO:0001583	missense	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.360G>T	22.37:g.22326273C>A	ENSP00000381773:p.Lys120Asn		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.K120N	ENST00000398793.2	37	c.360	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065679	0.76187	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393;ENST00000437929;ENST00000430142	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.36	-0.52	0.11935	DNA topoisomerase, type IA, core domain (1);Toprim domain (2);	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	M	0.69185	2.1	0.80722	D	1	P	0.41041	0.736	P	0.48952	0.596	T	0.13522	-1.0506	10	0.56958	D	0.05	12.5193	9.1757	0.37109	0.0:0.5276:0.0:0.4724	.	120	O95985	TOP3B_HUMAN	N	120	ENSP00000349705:K120N;ENSP00000381773:K120N;ENSP00000390977:K120N;ENSP00000402622:K120N;ENSP00000414538:K120N	ENSP00000349705:K120N	K	-	3	2	TOP3B	20656273	0.985000	0.35326	0.998000	0.56505	0.997000	0.91878	0.167000	0.16602	0.068000	0.16574	0.655000	0.94253	AAG	TOP3B	-	pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,prints_Topo_IA	ENSG00000100038		0.577	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1		0	65	0	C	NM_003935		22326273	-1			no_errors	ENST00000357179	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.998	A	A	22326273	C	A	22326273	3	1	173	1	0	0	0	0	1	0	0	0	16416	680	24	3	2284	3	TOP3B	22	22326273	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09		22326273	28978293	182	43516											
SEC14L2	23541	genome.wustl.edu	37	chr22	30811777	30811777	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaggttttactgaaacatAtcagccctgaccaggtgcct	11	10	10	10	0	1	2	1	2	0	0	1	3	1	3	3	3	4	1	3	3	3	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr22:30811777A>G	ENST00000312932.9	+	9	954	c.694A>G	c.(694-696)Atc>Gtc	p.I232V	SEC14L2_ENST00000403484.1_Missense_Mutation_p.I158V|SEC14L2_ENST00000402592.3_Missense_Mutation_p.I149V|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.I66V|SEC14L2_ENST00000405717.3_Missense_Mutation_p.I232V	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	232	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	ACTGAAACATATCAGCCCTGA	0.502																																																	0													58	55	56					22																	30811777		2203	4300	6503	SO:0001583	missense	0			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.694A>G	22.37:g.30811777A>G	ENSP00000316203:p.Ile232Val		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.I232V	ENST00000312932.9	37	c.694	CCDS13876.1	22	.	.	.	.	.	.	.	.	.	.	A	11.59	1.684560	0.29872	.	.	ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000249590	ENST00000312932;ENST00000428195;ENST00000403484;ENST00000405717;ENST00000402592;ENST00000439838	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.31	-0.399	0.12415	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.210963	0.49916	N	0.000139	T	0.24509	0.0594	L	0.49778	1.585	0.80722	D	1	B;B;B;B;B;B	0.20887	0.049;0.002;0.008;0.0;0.001;0.003	B;B;B;B;B;B	0.20184	0.028;0.018;0.018;0.018;0.024;0.028	T	0.06409	-1.0828	10	0.32370	T	0.25	-16.3847	10.3696	0.44046	0.7356:0.0:0.2644:0.0	.	149;178;232;158;232;232	F5H3U4;B7Z3Z8;B2RAW8;B3KRD8;O76054;O76054-4	.;.;.;.;S14L2_HUMAN;.	V	232;178;158;232;149;66	ENSP00000316203:I232V;ENSP00000387781:I178V;ENSP00000383993:I158V;ENSP00000385186:I232V;ENSP00000383882:I149V;ENSP00000415178:I66V	ENSP00000415178:I66V	I	+	1	0	RP4-539M6.19;SEC14L2	29141777	0.286000	0.24305	0.041000	0.18516	0.989000	0.77384	1.067000	0.30616	-0.327000	0.08551	0.528000	0.53228	ATC	SEC14L2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000100003		0.502	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4	-	0	29	0	A	NM_012429		30811777	1	tier1	-	no_errors	ENST00000312932	ensembl	human	known	74_37	missense	45.45	6	5	SNP	0.470	G	G	30811777	A	G	30811777	3	3	173	1	0	0	0	0	1	0	0	0	14027	449	16	4	728	4	SEC14L2	22	30811777	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	8485504	30811777	20492789	183	43517											
MKL1	57591	genome.wustl.edu	37	chr22	40816962	40816962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggatcttggcgtaggatGagtccatggggggtgccccc	6	8	17	10	1	1	1	0	1	1	0	2	3	2	3	3	6	1	2	3	6	1	2			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr22:40816962G>A	ENST00000355630.3	-	10	1360	c.770C>T	c.(769-771)tCa>tTa	p.S257L	MKL1_ENST00000407029.1_Missense_Mutation_p.S257L|MKL1_ENST00000396617.3_Missense_Mutation_p.S257L|MKL1_ENST00000402042.1_Missense_Mutation_p.S207L	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	257					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						GGCGTAGGATGAGTCCATGGG	0.592			T	RBM15	acute megakaryocytic leukemia																																			Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													90	83	85					22																	40816962		2203	4300	6503	SO:0001583	missense	0			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.770C>T	22.37:g.40816962G>A	ENSP00000347847:p.Ser257Leu		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.S257L	ENST00000355630.3	37	c.770	CCDS14003.1	22	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291982	0.80914	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.67523	-0.16;-0.22;-0.27;-0.16	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	M	0.79258	2.445	0.80722	D	1	D;D;D	0.63880	0.991;0.993;0.993	P;D;D	0.72338	0.798;0.977;0.977	D	0.84913	0.0849	10	0.87932	D	0	-16.8821	18.8656	0.92290	0.0:0.0:1.0:0.0	.	207;257;257	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	L	257;257;207;257	ENSP00000347847:S257L;ENSP00000379861:S257L;ENSP00000385584:S207L;ENSP00000385835:S257L	ENSP00000347847:S257L	S	-	2	0	MKL1	39146908	1.000000	0.71417	0.993000	0.49108	0.583000	0.36354	8.004000	0.88535	2.464000	0.83262	0.462000	0.41574	TCA	MKL1	-	NULL	ENSG00000196588		0.592	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKL1	HGNC	protein_coding	OTTHUMT00000321522.1	-	0	58	0	G	NM_020831		40816962	-1	tier1	-	no_errors	ENST00000355630	ensembl	human	known	74_37	missense	8.54	75	7	SNP	1.000	A	A	40816962	G	A	40816962	3	1	173	1	0	0	0	0	1	0	0	0	9639	1294	45	3	2049	3	MKL1	22	40816962	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	10005185	40816962	10487604	184	43518											
CPT1B	1375	genome.wustl.edu	37	chr22	51015018	51015018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcttgggcagagatgtctGgaagctgtagagcatagggt	11	9	16	5	0	1	2	0	0	1	2	1	4	1	3	0	3	3	5	0	3	4	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chr22:51015018G>T	ENST00000360719.2	-	5	645	c.508C>A	c.(508-510)Cag>Aag	p.Q170K	CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000405237.3_Missense_Mutation_p.Q170K|CPT1B_ENST00000457250.1_Intron|CPT1B_ENST00000312108.7_Missense_Mutation_p.Q170K|CPT1B_ENST00000395650.2_Missense_Mutation_p.Q170K|CPT1B_ENST00000434492.2_5'UTR|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.Q170K	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	170					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AGAGATGTCTGGAAGCTGTAG	0.587											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(170;988 1933 25577 30295 48163)												0													39	38	38					22																	51015018		2201	4298	6499	SO:0001583	missense	0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.508C>A	22.37:g.51015018G>T	ENSP00000353945:p.Gln170Lys	974	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.Q170K	ENST00000360719.2	37	c.508	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323282	0.81580	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000440709;ENST00000395650	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.95680	0.8595	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	0.975;1.0	D;D	0.91635	0.953;0.999	D	0.96244	0.9178	10	0.87932	D	0	-23.659	15.4193	0.74997	0.0:0.0:1.0:0.0	.	170;170	E9PCP2;Q92523	.;CPT1B_HUMAN	K	170	ENSP00000385486:Q170K;ENSP00000312189:Q170K;ENSP00000353945:Q170K;ENSP00000414713:Q170K;ENSP00000379011:Q170K	ENSP00000312189:Q170K	Q	-	1	0	CPT1B	49361884	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.149000	0.94659	2.514000	0.84764	0.491000	0.48974	CAG	CPT1B	-	NULL	ENSG00000205560		0.587	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	-	0	38	0	G	NM_152246		51015018	-1	tier1	-	no_errors	ENST00000312108	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	51015018	G	T	51015018	3	4	173	1	0	0	0	0	1	0	0	0	3839	1357	47	3	1870	3	CPT1B	22	51015018	Missense_Mutation	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09	10198056	51015018	289548	185	43519											
BEND2	139105	genome.wustl.edu	37	chrX	18221727	18221727	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggttatttgccagactGgattctcttcgtgacagaac	9	12	10	10	1	1	3	0	1	1	2	3	4	1	4	2	2	2	1	2	2	2	4			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chrX:18221727G>T	ENST00000380033.4	-	5	933	c.801C>A	c.(799-801)tcC>tcA	p.S267S	BEND2_ENST00000380030.3_Silent_p.S267S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	267										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTGCCAGACTGGATTCTCTTC	0.463																																																	0													149	127	135					X																	18221727		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.801C>A	X.37:g.18221727G>T			E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	pfam_BEN_domain	p.S267	ENST00000380033.4	37	c.801	CCDS14184.1	X																																																																																			BEND2	-	NULL	ENSG00000177324		0.463	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	-	0	67	0	G	NM_153346		18221727	-1	tier1	-	no_errors	ENST00000380033	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.000	T	T	18221727	G	T	18221727	2	4	173	1	0	0	0	0	0	0	0	1	1399	1335	47	3		3	BEND2	23	18221727	Silent	SNP	G	TCGA-VR-AA4G-01A-11D-A37C-09		18221727	137048833	186	43520											
SHROOM4	57477	genome.wustl.edu	37	chrX	50381301	50381301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtgcggcctactgacaggggCgttcctcctacagcaagaaa	10	7	12	12	2	0	2	0	1	0	1	2	2	2	2	3	3	4	2	3	3	4	3	rs145605338	byFrequency	TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chrX:50381301C>T	ENST00000289292.7	-	3	560	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	SHROOM4_ENST00000376020.2_Missense_Mutation_p.A93T|SHROOM4_ENST00000460112.3_5'UTR			Q9ULL8	SHRM4_HUMAN	shroom family member 4	93					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)					CTGACAGGGGCGTTCCTCCTA	0.577																																																	0								C	THR/ALA	5,3830		0,5,1627,571	64	45	52		277	-2	1	X	dbSNP_134	52	0,6728		0,0,2428,1872	yes	missense	SHROOM4	NM_020717.3	58	0,5,4055,2443	TT,TC,CC,C		0.0,0.1304,0.0473	benign	93/1494	50381301	5,10558	2203	4300	6503	SO:0001583	missense	0			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.277G>A	X.37:g.50381301C>T	ENSP00000289292:p.Ala93Thr		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A93T	ENST00000289292.7	37	c.277	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	9.088	1.001030	0.19121	0.001304	0.0	ENSG00000158352	ENST00000289292;ENST00000376020	T;T	0.09445	2.98;2.98	5.36	-2.02	0.07388	PDZ/DHR/GLGF (1);	0.868588	0.09929	N	0.737459	T	0.04092	0.0114	N	0.08118	0	0.32252	N	0.571244	B	0.09022	0.002	B	0.04013	0.001	T	0.43669	-0.9377	10	0.22706	T	0.39	.	3.0632	0.06206	0.1104:0.356:0.1079:0.4257	.	93	Q9ULL8	SHRM4_HUMAN	T	93	ENSP00000289292:A93T;ENSP00000365188:A93T	ENSP00000289292:A93T	A	-	1	0	SHROOM4	50398041	1.000000	0.71417	0.956000	0.39512	0.572000	0.35998	0.901000	0.28445	-0.483000	0.06772	-0.380000	0.06706	GCC	SHROOM4	-	superfamily_PDZ	ENSG00000158352		0.577	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	-	0	65	0	C	NM_020717		50381301	-1	tier1	rs145605338	no_errors	ENST00000289292	ensembl	human	known	74_37	missense	11.90	37	5	SNP	0.884	T	T	50381301	C	T	50381301	3	4	173	1	0	0	0	0	1	0	0	0	14341	768	27	1	4232	1	SHROOM4	23	50381301	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	32159574	50381301	104889259	187	43521											
TSPYL2	64061	genome.wustl.edu	37	chrX	53114892	53114892	+	Missense_Mutation	SNP	A	A	G	1	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	tggaagacattttcagcgagAtctcagacattgatgagaca	14	10	10	7	1	2	5	2	2	1	4	3	8	2	6	0	1	1	0	0	1	1	3			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chrX:53114892A>G	ENST00000375442.4	+	6	1450	c.1318A>G	c.(1318-1320)Atc>Gtc	p.I440V		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	440					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						TTTCAGCGAGATCTCAGACAT	0.463																																																	0													142	118	126					X																	53114892		2203	4300	6503	SO:0001583	missense	0			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.1318A>G	X.37:g.53114892A>G	ENSP00000364591:p.Ile440Val		O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	pfam_NAP_family	p.I440V	ENST00000375442.4	37	c.1318	CCDS14350.1	X	.	.	.	.	.	.	.	.	.	.	A	10.37	1.331398	0.24167	.	.	ENSG00000184205	ENST00000375442	T	0.22134	1.97	2.91	2.91	0.33838	.	0.229124	0.22148	N	0.063943	T	0.11153	0.0272	N	0.19112	0.55	0.22639	N	0.998906	B;B	0.26002	0.102;0.139	B;B	0.24541	0.054;0.019	T	0.22277	-1.0221	10	0.23302	T	0.38	-31.2776	6.7536	0.23501	1.0:0.0:0.0:0.0	.	80;440	Q59GC7;Q9H2G4	.;TSYL2_HUMAN	V	440	ENSP00000364591:I440V	ENSP00000364591:I440V	I	+	1	0	TSPYL2	53131617	0.998000	0.40836	0.969000	0.41365	0.867000	0.49689	1.368000	0.34216	1.396000	0.46663	0.231000	0.17811	ATC	TSPYL2	-	NULL	ENSG00000184205		0.463	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	HGNC	protein_coding	OTTHUMT00000056718.1	-	0	34	0	A	NM_022117		53114892	1	tier1	-	no_errors	ENST00000375442	ensembl	human	known	74_37	missense	34.88	28	15	SNP	0.967	G	G	53114892	A	G	53114892	3	3	173	1	0	0	0	0	1	0	0	0	16708	333	12	4	1340	4	TSPYL2	23	53114892	Missense_Mutation	SNP	A	TCGA-VR-AA4G-01A-11D-A37C-09	2733591	53114892	102155668	188	43522											
MAGEE1	57692	genome.wustl.edu	37	chrX	75648924	75648924	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggaccaagcacctccgtgCtgcctacacctggtgaggga	9	6	13	13	1	0	1	0	1	0	0	1	3	1	3	5	3	4	2	5	3	2	1			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chrX:75648924C>T	ENST00000361470.2	+	1	879	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	201	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTCCGTGCTGCCTACACC	0.682																																																	0													27	22	23					X																	75648924		2198	4294	6492	SO:0001819	synonymous_variant	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.601C>T	X.37:g.75648924C>T			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L201	ENST00000361470.2	37	c.601	CCDS14433.1	X																																																																																			MAGEE1	-	NULL	ENSG00000198934		0.682	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	-	0	36	0	C	NM_020932		75648924	1	tier1	-	no_errors	ENST00000361470	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.020	T	T	75648924	C	T	75648924	2	4	173	1	0	0	0	0	0	0	0	1	9223	796	28	3		3	MAGEE1	23	75648924	Silent	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	22534032	75648924	79621636	189	43523											
PCDH11X	27328	genome.wustl.edu	37	chrX	91873845	91873845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcatcccagtgatgattCaattaaagtcattcctttga	12	15	5	9	0	3	3	3	3	0	0	5	3	5	3	2	0	0	0	2	0	3	5			TCGA-VR-AA4G-01A-11D-A37C-09	TCGA-VR-AA4G-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	105a18c9-df7e-4573-b1a2-6a987e57d553	d231404d-ece5-43c0-a8a3-e9f294ceb777	g.chrX:91873845C>T	ENST00000373094.1	+	7	4795	c.3950C>T	c.(3949-3951)tCa>tTa	p.S1317L	PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1280L|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1307L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1309L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1299L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1280L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1317					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)	p.S1317L(1)		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						AGTGATGATTCAATTAAAGTC	0.463																																					NSCLC(38;925 1092 2571 38200 45895)												1	Substitution - Missense(1)	cervix(1)											168	155	159					X																	91873845		2203	4300	6503	SO:0001583	missense	0			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.3950C>T	X.37:g.91873845C>T	ENSP00000362186:p.Ser1317Leu		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1317L	ENST00000373094.1	37	c.3950	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553346	0.65425	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.60299	0.27;0.27;0.2;0.23;0.25;0.2	4.58	4.58	0.56647	.	.	.	.	.	T	0.60805	0.2297	N	0.24115	0.695	0.33438	D	0.581951	D;D;D;D;D	0.61697	0.99;0.99;0.99;0.99;0.983	P;P;P;P;P	0.59487	0.814;0.814;0.858;0.858;0.725	T	0.73116	-0.4084	9	0.87932	D	0	.	15.5329	0.75977	0.0:1.0:0.0:0.0	.	1280;1299;1309;1307;1317	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	L	1317;1307;1280;1299;1309;1317;1280	ENSP00000362186:S1317L;ENSP00000362189:S1307L;ENSP00000362180:S1280L;ENSP00000355105:S1299L;ENSP00000384758:S1309L;ENSP00000298274:S1280L	ENSP00000298274:S1280L	S	+	2	0	PCDH11X	91760501	0.784000	0.28713	1.000000	0.80357	0.756000	0.42949	2.641000	0.46587	1.850000	0.53721	0.466000	0.42574	TCA	PCDH11X	-	NULL	ENSG00000102290		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	87	0	C	NM_032969		91873845	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	32.05	53	25	SNP	0.998	T	T	91873845	C	T	91873845	3	4	173	1	0	0	0	0	1	0	0	0	11547	838	29	3	4098	3	PCDH11X	23	91873845	Missense_Mutation	SNP	C	TCGA-VR-AA4G-01A-11D-A37C-09	16224921	91873845	63396715	190	43524											
VPS13D	55187	genome.wustl.edu	37	chr1	12378163	12378163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgctttacagtagttCtcaacaatctccgtgtgttt	7	16	6	12	1	2	0	1	0	2	0	5	0	3	0	3	0	3	4	3	0	4	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:12378163C>A	ENST00000358136.3	+	31	7313	c.7183C>A	c.(7183-7185)Ctc>Atc	p.L2395I	VPS13D_ENST00000356315.4_Missense_Mutation_p.L2395I	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)		TACAGTAGTTCTCAACAATCT	0.353																																																	0													185	187	186					1																	12378163		2203	4300	6503	SO:0001583	missense	0			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.7183C>A	1.37:g.12378163C>A	ENSP00000350854:p.Leu2395Ile			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.L2395I	ENST00000358136.3	37	c.7183	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.164392|4.164392	0.78339|0.78339	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.52526	.|0.66;0.66	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.138572	.|0.47455	.|D	.|0.000240	T|T	0.65396|0.65396	0.2687|0.2687	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.997;0.997;0.994	.|D;D;D	.|0.78314	.|0.991;0.981;0.957	T|T	0.61816|0.61816	-0.6985|-0.6985	5|10	.|0.18710	.|T	.|0.47	.|.	12.4834|12.4834	0.55856|0.55856	0.0:0.9231:0.0:0.0769|0.0:0.9231:0.0:0.0769	.|.	.|302;2395;2395	.|B1AJZ2;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	L|I	1217|2395	.|ENSP00000348666:L2395I;ENSP00000350854:L2395I	.|ENSP00000348666:L2395I	F|L	+|+	3|1	2|0	VPS13D|VPS13D	12300750|12300750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.071000|3.071000	0.50041|0.50041	2.574000|2.574000	0.86865|0.86865	0.563000|0.563000	0.77884|0.77884	TTC|CTC	VPS13D	-	NULL	ENSG00000048707		0.353	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0	52	0	C	NM_015378		12378163	1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	A	A	12378163	C	A	12378163	3	1	174	1	0	0	0	0	1	0	0	0	17241	913	32	3	7301	3	VPS13D	1	12378163	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09		12378163	236872458	1	43525											
CLCNKA	1187	genome.wustl.edu	37	chr1	16349185	16349185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcaggagctgtggggccCctgtccccacatccgccgag	5	7	13	16	2	1	0	0	0	1	0	3	2	3	1	6	3	2	2	6	3	0	0	rs77127348		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:16349185C>T	ENST00000331433.4	+	2	90	c.71C>T	c.(70-72)cCc>cTc	p.P24L	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Missense_Mutation_p.P24L|CLCNKA_ENST00000420078.1_Missense_Mutation_p.P24L|CLCNKA_ENST00000439316.2_Missense_Mutation_p.P24L			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	24					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTGTGGGGCCCCTGTCCCCAC	0.657																																																	0													39	37	37					1																	16349185		2191	4269	6460	SO:0001583	missense	0				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.71C>T	1.37:g.16349185C>T	ENSP00000332771:p.Pro24Leu		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.P24L	ENST00000331433.4	37	c.71	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781232	0.49891	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.85258	-1.92;-1.92;-1.96;-1.92	4.12	3.17	0.36434	.	0.069774	0.64402	U	0.000018	D	0.89753	0.6806	M	0.81239	2.535	0.53005	D	0.999965	D;D;D	0.64830	0.994;0.994;0.989	P;P;P	0.60345	0.873;0.873;0.873	D	0.88841	0.3312	10	0.52906	T	0.07	.	9.4425	0.38677	0.0:0.7826:0.2174:0.0	.	24;24;24	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	L	24	ENSP00000364844:P24L;ENSP00000410353:P24L;ENSP00000414445:P24L;ENSP00000332771:P24L	ENSP00000332771:P24L	P	+	2	0	CLCNKA	16221772	0.025000	0.19082	0.956000	0.39512	0.319000	0.28217	1.447000	0.35101	0.899000	0.36444	0.313000	0.20887	CCC	CLCNKA	-	prints_Cl_channel-K	ENSG00000186510		0.657	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	-	0	64	0	C			16349185	1	tier1	-	no_errors	ENST00000331433	ensembl	human	known	74_37	missense	54.55	20	24	SNP	0.945	T	T	16349185	C	T	16349185	3	4	174	1	0	0	0	0	1	0	0	0	3476	623	22	3	73	3	CLCNKA	1	16349185	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	3971022	16349185	232901436	2	43526											
NR0B2	8431	genome.wustl.edu	37	chr1	27240299	27240299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatagctggacgggccGgtgctgcctacataggcagc	8	7	14	12	2	0	0	0	0	0	0	0	1	0	1	2	4	6	4	2	4	3	3	rs374067965		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:27240299G>A	ENST00000254227.3	-	1	158	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	45					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)		TGGACGGGCCGGTGCTGCCTA	0.642																																																	0								G	TRP/ARG	1,4401		0,1,2200	30	33	32		133	4.4	1	1		32	0,8598		0,0,4299	no	missense	NR0B2	NM_021969.2	101	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	45/258	27240299	1,12999	2201	4299	6500	SO:0001583	missense	0			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.133C>T	1.37:g.27240299G>A	ENSP00000254227:p.Arg45Trp		F1D8P5|Q5QP36	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.R45W	ENST00000254227.3	37	c.133	CCDS291.1	1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341639	0.41498	2.27E-4	0.0	ENSG00000131910	ENST00000254227	D	0.84800	-1.9	5.38	4.44	0.53790	Nuclear hormone receptor, ligand-binding (2);	0.122937	0.53938	D	0.000045	T	0.79969	0.4538	L	0.60455	1.87	0.49213	D	0.999765	B	0.29955	0.263	B	0.20767	0.031	T	0.77305	-0.2637	10	0.52906	T	0.07	-20.4236	9.188	0.37182	0.0764:0.0:0.7694:0.1542	.	45	Q15466	NR0B2_HUMAN	W	45	ENSP00000254227:R45W	ENSP00000254227:R45W	R	-	1	2	NR0B2	27112886	0.990000	0.36364	0.996000	0.52242	0.933000	0.57130	1.354000	0.34056	1.187000	0.43000	0.561000	0.74099	CGG	NR0B2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000131910		0.642	NR0B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B2	HGNC	protein_coding	OTTHUMT00000012185.1	-	0	47	0	G			27240299	-1	tier1	-	no_errors	ENST00000254227	ensembl	human	known	74_37	missense	51.28	19	20	SNP	0.894	A	A	27240299	G	A	27240299	3	1	174	1	0	0	0	0	1	0	0	0	10653	1115	39	1	648	1	NR0B2	1	27240299	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	10891114	27240299	222010322	3	43527											
C1orf113	79729	genome.wustl.edu	37	chr1	36785719	36785719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccccactctagaaaaggtCttgaccccagagctttctga	10	9	8	14	0	3	4	0	2	3	2	3	4	3	4	4	1	1	1	4	1	3	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:36785719C>T	ENST00000426732.2	+	13	1392	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	SH3D21_ENST00000453908.2_Silent_p.V485V|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Silent_p.V374V|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000312808.4_Silent_p.V131V			A4FU49	SH321_HUMAN	SH3 domain containing 21	369						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						TAGAAAAGGTCTTGACCCCAG	0.522																																																	0													53	59	57					1																	36785719		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1107C>T	1.37:g.36785719C>T			B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.V485	ENST00000426732.2	37	c.1455		1																																																																																			SH3D21	-	NULL	ENSG00000214193		0.522	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	HGNC	protein_coding		-	0	72	0	C	NM_024676		36785719	1	tier1	-	no_errors	ENST00000453908	ensembl	human	known	74_37	silent	25.49	38	13	SNP	0.011	T	T	36785719	C	T	36785719	2	4	174	1	0	0	0	0	0	0	0	1	1993	900	32	3		3	C1orf113	1	36785719	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	9545420	36785719	212464902	4	43528											
MACF1	23499	genome.wustl.edu	37	chr1	39835766	39835766	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctggtcaggaccttcCagaaatggttgaaagaaact	14	8	12	7	0	1	3	1	1	0	2	2	5	2	5	2	4	2	2	2	4	4	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:39835766C>T	ENST00000372915.3	+	50	13105	c.13018C>T	c.(13018-13020)Cag>Tag	p.Q4340*	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q2273*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q2273*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q4372*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q2273*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.Q4335*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q2273*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q2775*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4340					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)			CAGGACCTTCCAGAAATGGTT	0.428																																																	0													80	82	81					1																	39835766		2203	4300	6503	SO:0001587	stop_gained	0			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.13018C>T	1.37:g.39835766C>T	ENSP00000362006:p.Gln4340*		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.Q2273*	ENST00000372915.3	37	c.6817		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.781159|8.781159	0.98952|0.98952	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|.	.|.	.|.	5.52|5.52	4.55|4.55	0.56014|0.56014	.|.	.|0.326252	.|0.22469	.|N	.|0.059647	T|.	0.57621|.	0.2066|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49041|.	-0.8980|.	4|.	.|0.20519	.|T	.|0.43	.|.	13.5505|13.5505	0.61730|0.61730	0.3448:0.6552:0.0:0.0|0.3448:0.6552:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1406|2273;4340;2273;2273;2273;2775	.|.	.|ENSP00000289893:Q2775X	P|Q	+|+	2|1	0|0	MACF1|MACF1	39608353|39608353	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	2.920000|2.920000	0.48844|0.48844	2.610000|2.610000	0.88304|0.88304	0.591000|0.591000	0.81541|0.81541	CCA|CAG	MACF1	-	smart_Spectrin/alpha-actinin	ENSG00000127603		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	72	0	C	NM_033044		39835766	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	nonsense	7.78	83	7	SNP	1.000	T	T	39835766	C	T	39835766	4	4	174	1	0	0	0	0	0	1	0	0	9180	595	21	3	13150	3	MACF1	1	39835766	Nonsense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	3050047	39835766	209414855	5	43529											
SLFNL1	200172	genome.wustl.edu	37	chr1	41483370	41483370	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgagagtgtaggcatcGggaaagatctgaggcttgaa	13	8	16	4	1	1	4	0	3	1	2	2	6	1	5	0	4	0	3	0	4	4	2	rs74071110	byFrequency	TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:41483370G>T	ENST00000359345.1	-	2	3470	c.894C>A	c.(892-894)ccC>ccA	p.P298P	SLFNL1_ENST00000372613.2_Silent_p.P298P|SLFNL1_ENST00000439569.2_Silent_p.P298P|SLFNL1_ENST00000372611.1_Silent_p.P239P|SLFNL1_ENST00000302946.8_Silent_p.P298P|SLFNL1_ENST00000397197.2_Silent_p.P298P	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	298							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TGTAGGCATCGGGAAAGATCT	0.642																																																	0													84	79	81					1																	41483370		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.894C>A	1.37:g.41483370G>T			A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Silent	SNP	pfam_ATPase_AAA-4	p.P298	ENST00000359345.1	37	c.894	CCDS460.1	1																																																																																			SLFNL1	-	pfam_ATPase_AAA-4	ENSG00000171790		0.642	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFNL1	HGNC	protein_coding	OTTHUMT00000015650.1		0	31	0	G	NM_144990		41483370	-1			no_errors	ENST00000302946	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.066	T	T	41483370	G	T	41483370	2	4	174	1	0	0	0	0	0	0	0	1	14783	1103	39	2		2	SLFNL1	1	41483370	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	1647604	41483370	207767251	6	43530											
PTCH2	8643	genome.wustl.edu	37	chr1	45292420	45292420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaaggggaactgggcaaactCcaagggctgagctggcggga	11	4	18	8	1	0	1	0	1	0	0	1	4	1	3	1	6	3	3	1	6	4	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:45292420C>G	ENST00000372192.3	-	18	2846	c.2716G>C	c.(2716-2718)Gag>Cag	p.E906Q	PTCH2_ENST00000447098.2_Missense_Mutation_p.E906Q	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	906					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGGCAAACTCCAAGGGCTGA	0.682									Basal Cell Nevus syndrome																																								0													22	26	25					1																	45292420		2196	4287	6483	SO:0001583	missense	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2716G>C	1.37:g.45292420C>G	ENSP00000361266:p.Glu906Gln		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.E906Q	ENST00000372192.3	37	c.2716	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901989	0.72754	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.93247	-3.18;-3.19	3.89	3.89	0.44902	.	0.000000	0.49916	D	0.000136	D	0.94984	0.8377	L	0.54323	1.7	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	D;D	0.97110	0.921;1.0	D	0.92469	0.5984	10	0.14656	T	0.56	-18.3167	17.1751	0.86839	0.0:1.0:0.0:0.0	.	906;906	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	Q	906	ENSP00000389703:E906Q;ENSP00000361266:E906Q	ENSP00000361266:E906Q	E	-	1	0	PTCH2	45065007	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.530000	0.67141	2.462000	0.83206	0.563000	0.77884	GAG	PTCH2	-	tigrfam_TM_rcpt_patched	ENSG00000117425		0.682	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	-	0	25	0	C	NM_003738		45292420	-1	tier1	-	no_errors	ENST00000372192	ensembl	human	known	74_37	missense	69.23	8	18	SNP	1.000	G	G	45292420	C	G	45292420	3	3	174	1	0	0	0	0	1	0	0	0	12773	864	30	5	935	5	PTCH2	1	45292420	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	3809050	45292420	203958201	7	43531											
PRPF38A	84950	genome.wustl.edu	37	chr1	52871486	52871486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgagaaggatatcattgtaGagtttatcaaaaatgaagat	17	11	9	4	1	2	4	2	1	0	3	2	6	2	5	1	1	0	2	1	1	7	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:52871486G>C	ENST00000257181.9	+	2	451	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	PRPF38A_ENST00000474048.1_Intron|ORC1_ENST00000371568.3_5'Flank|ORC1_ENST00000371566.1_5'Flank	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	89					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						TATCATTGTAGAGTTTATCAA	0.388																																																	0													76	77	77					1																	52871486		2203	4300	6503	SO:0001583	missense	0			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.265G>C	1.37:g.52871486G>C	ENSP00000257181:p.Glu89Gln		Q96JW1|Q9BVZ8	Missense_Mutation	SNP	pfam_PRP38	p.E89Q	ENST00000257181.9	37	c.265	CCDS567.1	1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774797	0.90108	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.72	3.84	0.44239	.	0.047579	0.85682	D	0.000000	T	0.79747	0.4499	M	0.88570	2.965	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.79040	-0.1966	9	0.29301	T	0.29	-14.337	12.2662	0.54679	0.1375:0.0:0.8625:0.0	.	89	Q8NAV1	PR38A_HUMAN	Q	89	.	ENSP00000257181:E89Q	E	+	1	0	PRPF38A	52644074	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.784000	0.99039	0.767000	0.33267	0.585000	0.79938	GAG	PRPF38A	-	pfam_PRP38	ENSG00000134748		0.388	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	-	0	62	0	G	NM_032864		52871486	1	tier1	-	no_errors	ENST00000257181	ensembl	human	known	74_37	missense	18.82	69	16	SNP	1.000	C	C	52871486	G	C	52871486	3	2	174	1	0	0	0	0	1	0	0	0	12609	943	33	5	271	5	PRPF38A	1	52871486	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	7579066	52871486	196379135	8	43532											
USP24	23358	genome.wustl.edu	37	chr1	55643796	55643796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgagcagtttccattctCatcattcttctgacgaaaag	10	13	6	12	1	4	2	2	2	3	0	6	3	5	2	2	0	1	2	2	0	2	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:55643796C>T	ENST00000294383.6	-	2	333	c.334G>A	c.(334-336)Gag>Aag	p.E112K	USP24_ENST00000407756.1_Intron	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	112					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						TTTCCATTCTCATCATTCTTC	0.348																																																	0													112	103	106					1																	55643796		692	1591	2283	SO:0001583	missense	0			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.334G>A	1.37:g.55643796C>T	ENSP00000294383:p.Glu112Lys		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.E112K	ENST00000294383.6	37	c.334	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	32	5.158309	0.94686	.	.	ENSG00000162402	ENST00000294383	T	0.02472	4.28	5.72	5.72	0.89469	.	0.060741	0.64402	D	0.000007	T	0.11410	0.0278	L	0.60455	1.87	0.80722	D	1	.	.	.	.	.	.	T	0.00492	-1.1707	8	0.45353	T	0.12	.	19.869	0.96843	0.0:1.0:0.0:0.0	.	.	.	.	K	112	ENSP00000294383:E112K	ENSP00000294383:E112K	E	-	1	0	USP24	55416384	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.463000	0.80869	2.709000	0.92574	0.591000	0.81541	GAG	USP24	-	NULL	ENSG00000162402		0.348	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0	189	0	C			55643796	-1	tier1	-	no_errors	ENST00000294383	ensembl	human	novel	74_37	missense	17.10	160	33	SNP	1.000	T	T	55643796	C	T	55643796	3	4	174	1	0	0	0	0	1	0	0	0	17104	835	29	3	7796	3	USP24	1	55643796	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	2772310	55643796	193606825	9	43533											
ST6GALNAC3	256435	genome.wustl.edu	37	chr1	77094397	77094397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatgaacatgccccatatgGgggtcataggtttatcactg	10	12	10	9	0	3	1	3	1	0	0	3	1	3	1	2	3	2	1	2	3	4	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:77094397G>A	ENST00000328299.3	+	5	972	c.824G>A	c.(823-825)gGg>gAg	p.G275E		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	275					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GCCCCATATGGGGGTCATAGG	0.378																																																	0													125	128	127					1																	77094397		2203	4298	6501	SO:0001583	missense	0				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.824G>A	1.37:g.77094397G>A	ENSP00000329214:p.Gly275Glu		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.G275E	ENST00000328299.3	37	c.824	CCDS672.1	1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.986797	0.74589	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	T	0.32272	1.46	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.98;0.998	T	0.64972	-0.6281	10	0.72032	D	0.01	-26.7341	19.3735	0.94500	0.0:0.0:1.0:0.0	.	174;275	B4DM98;Q8NDV1	.;SIA7C_HUMAN	E	275;274;173	ENSP00000329214:G275E	ENSP00000329214:G275E	G	+	2	0	ST6GALNAC3	76866985	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.398000	0.97281	2.644000	0.89710	0.645000	0.84053	GGG	ST6GALNAC3	-	pfam_Glyco_trans_29	ENSG00000184005		0.378	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	-	0	60	0	G	NM_152996		77094397	1	tier1	-	no_errors	ENST00000328299	ensembl	human	known	74_37	missense	52.63	27	30	SNP	1.000	A	A	77094397	G	A	77094397	3	1	174	1	0	0	0	0	1	0	0	0	15272	1232	43	3	856	3	ST6GALNAC3	1	77094397	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	21450601	77094397	172156224	10	43534											
ATP1A1	476	genome.wustl.edu	37	chr1	116926723	116926723	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagacagggacatggatGaactgaagaaagaagtttct	19	7	11	4	0	1	5	0	2	1	3	1	7	1	7	0	2	1	1	0	2	6	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:116926723G>T	ENST00000295598.5	+	2	352	c.100G>T	c.(100-102)Gaa>Taa	p.E34*	AL136376.1_ENST00000598661.1_5'Flank|ATP1A1_ENST00000369496.4_Nonsense_Mutation_p.E3*|ATP1A1_ENST00000537345.1_Nonsense_Mutation_p.E34*	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	34					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)	GGACATGGATGAACTGAAGAA	0.393																																																	0													72	71	72					1																	116926723		2203	4300	6503	SO:0001587	stop_gained	0			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.100G>T	1.37:g.116926723G>T	ENSP00000295598:p.Glu34*		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.E34*	ENST00000295598.5	37	c.100	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.432222	0.98808	.	.	ENSG00000163399	ENST00000418797;ENST00000295598;ENST00000537345;ENST00000369494;ENST00000339159;ENST00000369496	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.441	0.94821	0.0:0.0:1.0:0.0	.	.	.	.	X	3;34;34;3;33;3	.	ENSP00000295598:E34X	E	+	1	0	ATP1A1	116728246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.612000	0.98347	2.831000	0.97527	0.655000	0.94253	GAA	ATP1A1	-	tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000163399		0.393	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5		0	71	0	G	NM_001160233		116926723	1			no_errors	ENST00000295598	ensembl	human	known	74_37	nonsense	5.00	76	4	SNP	1.000	T	T	116926723	G	T	116926723	4	4	174	1	0	0	0	0	0	1	0	0	1129	1291	45	3	122	3	ATP1A1	1	116926723	Nonsense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	39832326	116926723	132323898	11	43535											
IGSF3	3321	genome.wustl.edu	37	chr1	117146501	117146501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagccacatgatattgctgcGgcggttctgcctgtccacaa	8	11	10	12	2	1	1	0	1	1	0	2	1	2	1	3	2	4	2	3	2	3	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:117146501G>A	ENST00000369486.3	-	6	2134	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	IGSF3_ENST00000369483.1_Missense_Mutation_p.R477C|IGSF3_ENST00000318837.6_Missense_Mutation_p.R477C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	457	Ig-like C2-type 4.				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)		ATATTGCTGCGGCGGTTCTGC	0.647																																																	0													68	66	67					1																	117146501		2202	4298	6500	SO:0001583	missense	0			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.1369C>T	1.37:g.117146501G>A	ENSP00000358498:p.Arg457Cys		A6NJZ6|A6NMC7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R477C	ENST00000369486.3	37	c.1429	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003704	0.74932	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.65549	-0.16;-0.16;-0.16	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.451806	0.24236	N	0.040317	T	0.62502	0.2433	L	0.29908	0.895	0.50313	D	0.99986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.95;0.991;0.971	T	0.61068	-0.7137	10	0.38643	T	0.18	-29.8822	16.4297	0.83837	0.0:0.0:1.0:0.0	.	477;457;477	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	C	457;477;477	ENSP00000358498:R457C;ENSP00000358495:R477C;ENSP00000321184:R477C	ENSP00000321184:R477C	R	-	1	0	IGSF3	116948024	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.034000	0.57289	2.735000	0.93741	0.557000	0.71058	CGC	IGSF3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143061		0.647	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1		0	51	0	G	NM_001542		117146501	-1			no_errors	ENST00000318837	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	A	A	117146501	G	A	117146501	3	1	174	1	0	0	0	0	1	0	0	0	7628	1116	39	1	2239	1	IGSF3	1	117146501	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	219778	117146501	132104120	12	43536											
UBAP2L	9898	genome.wustl.edu	37	chr1	154215741	154215741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaatgtgtcttcagtgcctCtgcctgcggagaatgtgaca	8	12	11	10	1	3	2	1	1	2	1	3	3	3	2	2	1	3	0	2	1	2	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:154215741C>G	ENST00000361546.2	+	9	847	c.805C>G	c.(805-807)Ctg>Gtg	p.L269V	UBAP2L_ENST00000428931.1_Missense_Mutation_p.L269V|UBAP2L_ENST00000271877.7_Missense_Mutation_p.L280V|UBAP2L_ENST00000343815.6_Missense_Mutation_p.L269V			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	269					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)			TTCAGTGCCTCTGCCTGCGGA	0.448																																																	0													215	195	202					1																	154215741		2203	4300	6503	SO:0001583	missense	0			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.805C>G	1.37:g.154215741C>G	ENSP00000355343:p.Leu269Val		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.L269V	ENST00000361546.2	37	c.805	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	C	7.464	0.645194	0.14451	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000361546	T;T;T;T;T;T;T	0.45276	2.69;2.69;2.69;0.93;0.9;0.94;2.69	4.8	4.8	0.61643	.	0.278187	0.30869	N	0.008706	T	0.08358	0.0208	N	0.02011	-0.69	0.33909	D	0.639441	B;B;B;B;B	0.29136	0.004;0.234;0.007;0.007;0.004	B;B;B;B;B	0.25506	0.002;0.061;0.005;0.005;0.002	T	0.09143	-1.0688	10	0.15499	T	0.54	-4.477	17.0462	0.86504	0.0:1.0:0.0:0.0	.	183;280;262;269;269	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	V	269;269;280;269;280;262;269	ENSP00000345308:L269V;ENSP00000389445:L269V;ENSP00000271877:L280V;ENSP00000389052:L269V;ENSP00000357490:L280V;ENSP00000389717:L262V;ENSP00000355343:L269V	ENSP00000271877:L280V	L	+	1	2	UBAP2L	152482365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.031000	0.41117	2.504000	0.84457	0.650000	0.86243	CTG	UBAP2L	-	NULL	ENSG00000143569		0.448	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	-	0	83	0	C	NM_014847		154215741	1	tier1	-	no_errors	ENST00000361546	ensembl	human	known	74_37	missense	49.23	33	32	SNP	1.000	G	G	154215741	C	G	154215741	3	3	174	1	0	0	0	0	1	0	0	0	16887	912	32	5	839	5	UBAP2L	1	154215741	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	37069240	154215741	95034880	13	43537											
UBQLN4	56893	genome.wustl.edu	37	chr1	156018300	156018300	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatcccacctgttcccGggcagcactgaacatgggct	7	9	10	15	1	0	2	0	2	0	0	2	2	2	2	4	2	2	4	4	2	1	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:156018300G>T	ENST00000368309.3	-	5	984	c.892C>A	c.(892-894)Cgg>Agg	p.R298R	UBQLN4_ENST00000472638.1_5'UTR	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	298				R -> Q (in Ref. 1; AAF80171). {ECO:0000305}.	regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					ACCTGTTCCCGGGCAGCACTG	0.622																																																	0													43	41	42					1																	156018300		2203	4300	6503	SO:0001819	synonymous_variant	0			BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"Ubiquilin family"	1237	protein-coding gene	gene with protein product	"ataxin-1 ubiquitin-like interacting protein"	605440	"chromosome 1 open reading frame 6"	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.892C>A	1.37:g.156018300G>T			A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Silent	SNP	pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.R298	ENST00000368309.3	37	c.892	CCDS1127.1	1																																																																																			UBQLN4	-	NULL	ENSG00000160803		0.622	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN4	HGNC	protein_coding	OTTHUMT00000046193.1	-	0	51	0	G	NM_020131		156018300	-1	tier1	-	no_errors	ENST00000368309	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.976	T	T	156018300	G	T	156018300	2	4	174	1	0	0	0	0	0	0	0	1	16948	1115	39	2		2	UBQLN4	1	156018300	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	1802559	156018300	93232321	14	43538											
FCRL5	83416	genome.wustl.edu	37	chr1	157512737	157512737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccctgaattctctgtagtCagtgagaagctgatggatgc	9	13	11	8	0	2	3	1	3	1	1	4	5	3	4	1	1	2	2	1	1	3	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:157512737C>T	ENST00000361835.3	-	6	1192	c.1035G>A	c.(1033-1035)ctG>ctA	p.L345L	FCRL5_ENST00000368190.3_Silent_p.L345L|FCRL5_ENST00000368191.3_Silent_p.L260L|FCRL5_ENST00000356953.4_Silent_p.L345L|FCRL5_ENST00000368189.3_Silent_p.L345L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	345	Ig-like C2-type 3.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCTCTGTAGTCAGTGAGAAGC	0.527																																																	0													126	123	124					1																	157512737		2203	4300	6503	SO:0001819	synonymous_variant	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1035G>A	1.37:g.157512737C>T			A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L345	ENST00000361835.3	37	c.1035	CCDS1165.1	1																																																																																			FCRL5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143297		0.527	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	-	0	42	0	C	NM_031281		157512737	-1	tier1	-	no_errors	ENST00000356953	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.010	T	T	157512737	C	T	157512737	2	4	174	1	0	0	0	0	0	0	0	1	5820	813	29	3		3	FCRL5	1	157512737	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	1494437	157512737	91737884	15	43539											
GPR52	9293	genome.wustl.edu	37	chr1	174417614	174417614	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtttttggatatatcatctCagttctaaaaagtgtttcta	11	18	7	5	0	4	0	2	0	3	0	5	1	4	1	0	2	0	3	0	2	6	8			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:174417614C>G	ENST00000367685.2	+	1	403	c.365C>G	c.(364-366)tCa>tGa	p.S122*	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	122					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TATATCATCTCAGTTCTAAAA	0.443																																					Ovarian(92;924 1390 1930 16467 40583)												0													220	219	219					1																	174417614		2203	4300	6503	SO:0001587	stop_gained	0			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.365C>G	1.37:g.174417614C>G	ENSP00000356658:p.Ser122*		O75654|Q4VBL6|Q6ISM0	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S122*	ENST00000367685.2	37	c.365	CCDS30941.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511740	0.85389	.	.	ENSG00000203737	ENST00000367685	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-7.8595	19.9403	0.97159	0.0:1.0:0.0:0.0	.	.	.	.	X	122	.	ENSP00000356658:S122X	S	+	2	0	GPR52	172684237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.755000	0.68750	2.712000	0.92718	0.650000	0.86243	TCA	GPR52	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000203737		0.443	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	HGNC	protein_coding	OTTHUMT00000084511.1	-	0	52	0	C	NM_005684		174417614	1	tier1	-	no_errors	ENST00000367685	ensembl	human	known	74_37	nonsense	42.86	16	12	SNP	1.000	G	G	174417614	C	G	174417614	4	3	174	1	0	0	0	0	0	1	0	0	6724	838	29	5	367	5	GPR52	1	174417614	Nonsense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	16904877	174417614	74833007	16	43540											
CRB1	23418	genome.wustl.edu	37	chr1	197404164	197404164	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaaatggaagtggacaaCgaaacaccttttgtgaccag	14	8	11	8	1	0	1	0	1	0	0	0	4	0	3	2	3	2	1	2	3	4	2	rs62636284		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:197404164C>T	ENST00000367400.3	+	9	3306	c.3171C>T	c.(3169-3171)aaC>aaT	p.N1057N	CRB1_ENST00000367399.2_Silent_p.N945N|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Silent_p.N438N|CRB1_ENST00000535699.1_Silent_p.N1033N|CRB1_ENST00000544212.1_Silent_p.N538N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1057	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAGTGGACAACGAAACACCTT	0.448													C|||	1	0.000199681	0	0	5008	,	,		18693	0		0	False		,,,				2504	0.001																0													79	82	81					1																	197404164		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3171C>T	1.37:g.197404164C>T			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.N1057	ENST00000367400.3	37	c.3171	CCDS1390.1	1																																																																																			CRB1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000134376		0.448	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	0	52	0	C	NM_201253		197404164	1	tier1	rs62636284	no_errors	ENST00000367400	ensembl	human	known	74_37	silent	20.93	34	9	SNP	0.000	T	T	197404164	C	T	197404164	2	4	174	1	0	0	0	0	0	0	0	1	3855	535	19	1		1	CRB1	1	197404164	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	22986550	197404164	51846457	17	43541											
KCTD3	51133	genome.wustl.edu	37	chr1	215793774	215793774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaaataaaatagagtttagGaagaaaggaggatttgaagg	20	8	13	0	0	0	3	0	1	0	2	0	7	0	6	0	4	0	1	0	4	9	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:215793774G>A	ENST00000259154.4	+	18	2556	c.2262G>A	c.(2260-2262)agG>agA	p.R754R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	754					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TAGAGTTTAGGAAGAAAGGAG	0.398																																																	0													76	80	78					1																	215793774		2203	4297	6500	SO:0001819	synonymous_variant	0			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2262G>A	1.37:g.215793774G>A			A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.R754	ENST00000259154.4	37	c.2262	CCDS1515.1	1																																																																																			KCTD3	-	NULL	ENSG00000136636		0.398	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD3	HGNC	protein_coding	OTTHUMT00000089871.2	-	0	101	0	G	NM_016121		215793774	1	tier1	-	no_errors	ENST00000259154	ensembl	human	known	74_37	silent	23.53	65	20	SNP	0.966	A	A	215793774	G	A	215793774	2	1	174	1	0	0	0	0	0	0	0	1	8137	1165	41	3		3	KCTD3	1	215793774	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	18389610	215793774	33456847	18	43542											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232650439	232650439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggtcataattttctactCggtaccctctgagcatagca	9	14	8	10	1	3	1	1	1	2	0	4	1	3	1	1	2	4	3	1	2	4	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:232650439C>T	ENST00000366630.1	-	2	1005	c.647G>A	c.(646-648)cGa>cAa	p.R216Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R216Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	216					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)				ATTTTCTACTCGGTACCCTCT	0.498																																																	0													113	112	112					1																	232650439		1884	4110	5994	SO:0001583	missense	0			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.647G>A	1.37:g.232650439C>T	ENSP00000355589:p.Arg216Gln		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R216Q	ENST00000366630.1	37	c.647	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485491	0.44147	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.41758	0.99;0.99	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.30103	0.0754	N	0.25485	0.75	0.48632	D	0.999686	P	0.39624	0.681	B	0.32090	0.14	T	0.06232	-1.0838	10	0.27082	T	0.32	-20.5052	18.9136	0.92496	0.0:1.0:0.0:0.0	.	216	Q9P2F8	SI1L2_HUMAN	Q	216	ENSP00000355589:R216Q;ENSP00000262861:R216Q	ENSP00000262861:R216Q	R	-	2	0	SIPA1L2	230717062	1.000000	0.71417	0.960000	0.40013	0.975000	0.68041	4.761000	0.62243	2.708000	0.92522	0.650000	0.86243	CGA	SIPA1L2	-	NULL	ENSG00000116991		0.498	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	-	0	40	0	C	XM_045839		232650439	-1	tier1	-	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	T	T	232650439	C	T	232650439	3	4	174	1	0	0	0	0	1	0	0	0	14375	884	31	1	4605	1	SIPA1L2	1	232650439	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	16856665	232650439	16600182	19	43543											
FMN2	56776	genome.wustl.edu	37	chr1	240370862	240370862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctccccctcctcttcccgGagcgggcatacctcctccgc	3	8	7	23	3	1	0	0	0	1	0	6	1	6	1	8	2	2	1	8	2	1	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr1:240370862G>A	ENST00000319653.9	+	5	2980	c.2750G>A	c.(2749-2751)gGa>gAa	p.G917E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	917	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1060E(1)		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)			CCTCTTCCCGGAGCGGGCATA	0.657																																																	1	Substitution - Missense(1)	lung(1)											41	46	44					1																	240370862		2203	4300	6503	SO:0001583	missense	0			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.2750G>A	1.37:g.240370862G>A	ENSP00000318884:p.Gly917Glu		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.G917E	ENST00000319653.9	37	c.2750	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	7.434	0.639308	0.14386	.	.	ENSG00000155816	ENST00000319653	T	0.67523	-0.27	3.78	1.87	0.25490	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.590598	0.14883	N	0.292834	T	0.70456	0.3226	M	0.87827	2.91	0.09310	N	1	P	0.38048	0.616	B	0.42163	0.378	T	0.63269	-0.6675	9	.	.	.	.	7.5848	0.27987	0.2259:0.0:0.7741:0.0	.	917	Q9NZ56	FMN2_HUMAN	E	917	ENSP00000318884:G917E	.	G	+	2	0	FMN2	238437485	0.935000	0.31712	0.004000	0.12327	0.010000	0.07245	1.350000	0.34010	0.924000	0.37069	0.305000	0.20034	GGA	FMN2	-	pfam_Formin_homology_1,smart_FH2_Formin	ENSG00000155816		0.657	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	86	0	G	XM_371352		240370862	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	32.20	39	19	SNP	0.005	A	A	240370862	G	A	240370862	3	1	174	1	0	0	0	0	1	0	0	0	5972	1174	41	3	2768	3	FMN2	1	240370862	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	7720423	240370862	8879759	20	43544											
CD207	50489	genome.wustl.edu	37	chr2	71061152	71061152	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgcccataaaccggggatCtgggattgagaaagtcagga	12	7	15	7	1	2	1	1	1	1	1	2	5	2	4	2	5	2	0	2	5	3	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr2:71061152C>T	ENST00000410009.3	-	3	236		c.e3-1			NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin						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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AACCGGGGATCTGGGATTGAG	0.498																																																	0													27	23	24					2																	71061152		1948	4139	6087	SO:0001630	splice_region_variant	0			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.191-1G>A	2.37:g.71061152C>T				Splice_Site	SNP	-	e3-1	ENST00000410009.3	37	c.191-1		2	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369303	0.24771	.	.	ENSG00000116031	ENST00000410009	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9117	0.52743	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD207	70914660	1.000000	0.71417	0.994000	0.49952	0.287000	0.27160	3.085000	0.50151	2.508000	0.84585	0.655000	0.94253	.	CD207	-	-	ENSG00000116031		0.498	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	HGNC	protein_coding	OTTHUMT00000329959.4	-	0	28	0	C	NM_015717	Intron	71061152	-1	tier1	-	no_errors	ENST00000410009	ensembl	human	known	74_37	splice_site	66.67	2	4	SNP	0.998	T	T	71061152	C	T	71061152	5	4	174	1	0	0	0	0	0	0	1	0	2990	927	32	3	812	3	CD207	2	71061152	Splice_Site	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09		71061152	172138221	21	43545											
TFCP2L1	29842	genome.wustl.edu	37	chr2	121995273	121995273	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctgggcatcctggatcGaagctgatgggagcaggtgc	8	8	16	9	1	0	1	0	1	0	0	2	4	1	3	1	4	4	4	1	4	1	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr2:121995273G>T	ENST00000263707.5	-	10	1026	c.929C>A	c.(928-930)tCg>tAg	p.S310*		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	310					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					ATCCTGGATCGAAGCTGATGG	0.592																																																	0													88	89	89					2																	121995273		2203	4300	6503	SO:0001587	stop_gained	0			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.929C>A	2.37:g.121995273G>T	ENSP00000263707:p.Ser310*		Q4ZG43	Nonsense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.S310*	ENST00000263707.5	37	c.929	CCDS2134.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.254314	0.98168	.	.	ENSG00000115112	ENST00000263707	.	.	.	5.69	5.69	0.88448	.	0.250225	0.42420	D	0.000710	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.6674	19.819	0.96583	0.0:0.0:1.0:0.0	.	.	.	.	X	310	.	ENSP00000263707:S310X	S	-	2	0	TFCP2L1	121711743	1.000000	0.71417	0.984000	0.44739	0.770000	0.43624	9.684000	0.98659	2.691000	0.91804	0.655000	0.94253	TCG	TFCP2L1	-	superfamily_SAM/pointed	ENSG00000115112		0.592	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2L1	HGNC	protein_coding	OTTHUMT00000338539.1		0	30	0	G	NM_014553		121995273	-1			no_errors	ENST00000263707	ensembl	human	known	74_37	nonsense	22.22	7	2	SNP	1.000	T	T	121995273	G	T	121995273	4	4	174	1	0	0	0	0	0	1	0	0	15843	1059	37	2	534	2	TFCP2L1	2	121995273	Nonsense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	50934121	121995273	121204100	22	43546											
PTPN18	26469	genome.wustl.edu	37	chr2	131117002	131117002	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctggcctacattgccacGcaaggacccttgcctcacac	9	7	8	17	1	1	0	1	0	0	0	1	1	1	1	5	2	4	1	5	2	2	3	rs138461234	byFrequency	TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr2:131117002G>A	ENST00000175756.5	+	4	413	c.312G>A	c.(310-312)acG>acA	p.T104T	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	104	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					ACATTGCCACGCAAGGACCCT	0.607																																																	0													98	89	92					2																	131117002		2203	4300	6503	SO:0001819	synonymous_variant	0			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.312G>A	2.37:g.131117002G>A			B4E1E6|Q53P42	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.T104	ENST00000175756.5	37	c.312	CCDS2161.1	2																																																																																			PTPN18	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000072135		0.607	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN18	HGNC	protein_coding	OTTHUMT00000254523.2	-	0	49	0	G			131117002	1	tier1	-	no_errors	ENST00000175756	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.003	A	A	131117002	G	A	131117002	2	1	174	1	0	0	0	0	0	0	0	1	12827	1074	38	1		1	PTPN18	2	131117002	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	9121729	131117002	112082371	23	43547											
TMEM163	81615	genome.wustl.edu	37	chr2	135215728	135215728	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcccatcacgccaccCacgagggagttaaaccctgc	12	4	10	15	2	1	1	1	0	0	1	1	4	1	2	4	1	3	1	4	1	3	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr2:135215728C>G	ENST00000281924.6	-	7	748	c.684G>C	c.(682-684)gtG>gtC	p.V228V		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	228						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		TCACGCCACCCACGAGGGAGT	0.557																																																	0													91	85	87					2																	135215728		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.684G>C	2.37:g.135215728C>G			Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Silent	SNP	NULL	p.V228	ENST00000281924.6	37	c.684	CCDS2172.1	2																																																																																			TMEM163	-	NULL	ENSG00000152128		0.557	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM163	HGNC	protein_coding	OTTHUMT00000254631.2	-	0	25	0	C	NM_030923		135215728	-1	tier1	-	no_errors	ENST00000281924	ensembl	human	known	74_37	silent	53.33	7	8	SNP	1.000	G	G	135215728	C	G	135215728	2	3	174	1	0	0	0	0	0	0	0	1	16125	581	21	5		5	TMEM163	2	135215728	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	4098726	135215728	107983645	24	43548											
NEB	4703	genome.wustl.edu	37	chr2	152512796	152512796	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatcctttgcagccgtGacactgagcatgtcggcagg	7	9	14	11	2	0	2	0	2	0	0	2	2	1	2	2	3	3	4	2	3	0	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr2:152512796G>T	ENST00000172853.10	-	49	6513	c.6366C>A	c.(6364-6366)gtC>gtA	p.V2122V	NEB_ENST00000409198.1_Silent_p.V2122V|NEB_ENST00000427231.2_Silent_p.V2122V|NEB_ENST00000397345.3_Silent_p.V2122V|NEB_ENST00000604864.1_Silent_p.V2122V|NEB_ENST00000603639.1_Silent_p.V2122V			P20929	NEBU_HUMAN	nebulin	2122					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.V2122V(2)		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)		TTGCAGCCGTGACACTGAGCA	0.473																																																	2	Substitution - coding silent(2)	lung(2)											293	293	293					2																	152512796		2125	4248	6373	SO:0001819	synonymous_variant	0			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.6366C>A	2.37:g.152512796G>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.V2122	ENST00000172853.10	37	c.6366		2																																																																																			NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.473	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0	57	0	G	NM_004543		152512796	-1			no_errors	ENST00000397345	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.990	T	T	152512796	G	T	152512796	2	4	174	1	0	0	0	0	0	0	0	1	10341	1277	45	3		3	NEB	2	152512796	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	17297068	152512796	90686577	25	43549											
ZAK	51776	genome.wustl.edu	37	chr2	174074471	174074471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcagaaacggccatcattCaagcaaatcatttcaatcct	14	11	4	12	1	5	1	5	0	0	1	6	1	6	1	2	1	2	1	2	1	4	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr2:174074471C>G	ENST00000375213.3	+	10	837	c.759C>G	c.(757-759)ttC>ttG	p.F253L	MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000338983.3_Missense_Mutation_p.F253L|MLTK_ENST00000409176.2_Missense_Mutation_p.F253L|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.F253L|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000431503.2_Missense_Mutation_p.F152L	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		253	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)										GGCCATCATTCAAGCAAATCA	0.408																																																	0													109	98	102					2																	174074471		2203	4300	6503	SO:0001583	missense	0																														ENST00000375213.3:c.759C>G	2.37:g.174074471C>G	ENSP00000364361:p.Phe253Leu		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F253L	ENST00000375213.3	37	c.759	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858691	0.91433	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.97	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.041761	0.85682	D	0.000000	D	0.90669	0.7073	L	0.53249	1.67	0.80722	D	1	P;P;D;P;P	0.69078	0.911;0.891;0.997;0.911;0.604	P;P;P;P;B	0.61070	0.672;0.543;0.883;0.672;0.218	D	0.91652	0.5335	10	0.87932	D	0	.	15.3335	0.74231	0.0:0.933:0.0:0.067	.	253;253;253;253;253	A8K710;Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;.;MLTK_HUMAN;.;.	L	253;253;253;152;253	ENSP00000439414:F253L;ENSP00000387259:F253L;ENSP00000340257:F253L;ENSP00000399787:F152L;ENSP00000364361:F253L	ENSP00000340257:F253L	F	+	3	2	AC013461.1	173782717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.784000	0.47774	1.535000	0.49220	0.591000	0.81541	TTC	MLTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000091436		0.408	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_gn	protein_coding	OTTHUMT00000255401.1	-	0	31	0	C			174074471	1	tier1	-	no_errors	ENST00000375213	ensembl	human	known	74_37	missense	52.94	8	9	SNP	1.000	G	G	174074471	C	G	174074471	3	3	174	1	0	0	0	0	1	0	0	0	17561	825	29	5	793	5	ZAK	2	174074471	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	21561675	174074471	69124902	26	43550											
TTN	7273	genome.wustl.edu	37	chr2	179486304	179486304	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaccaggattctcttccGtccttcagtcagtatttcat	9	15	6	11	1	4	1	3	1	1	0	7	2	6	2	3	1	0	1	3	1	2	5	rs199834143		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr2:179486304G>T	ENST00000591111.1	-	195	40548	c.40324C>A	c.(40324-40326)Cgg>Agg	p.R13442R	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Silent_p.R12515R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.R6018R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.R6143R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.R6210R|TTN_ENST00000589042.1_Silent_p.R15083R|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13442	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCTCTTCCGTCCTTCAGTC	0.463																																																	0													138	136	137					2																	179486304		2000	4177	6177	SO:0001819	synonymous_variant	0			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.40324C>A	2.37:g.179486304G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R12515	ENST00000591111.1	37	c.37543		2																																																																																			TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	36	0	G	NM_133378		179486304	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.489	T	T	179486304	G	T	179486304	2	4	174	1	0	0	0	0	0	0	0	1	16784	1144	40	2		2	TTN	2	179486304	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	5411833	179486304	63713069	27	43551											
HECW2	57520	genome.wustl.edu	37	chr2	197066110	197066110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacggttaaaacatgtatgcGctctgaaaacacaagaaaca	18	7	8	8	2	1	2	0	1	1	1	1	3	1	2	0	1	4	3	0	1	7	2	rs560792476		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr2:197066110G>A	ENST00000260983.3	-	29	4792	c.4610C>T	c.(4609-4611)gCg>gTg	p.A1537V	HECW2_ENST00000409111.1_Missense_Mutation_p.A1181V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1537	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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						ACATGTATGCGCTCTGAAAAC	0.428													G|||	1	0.000199681	0	0.0014	5008	,	,		18633	0		0	False		,,,				2504	0																0													121	110	114					2																	197066110		2203	4300	6503	SO:0001583	missense	0			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.4610C>T	2.37:g.197066110G>A	ENSP00000260983:p.Ala1537Val		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.A1537V	ENST00000260983.3	37	c.4610	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894498	0.52121	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.60548	0.18;0.18	4.95	4.95	0.65309	HECT (4);	0.058268	0.64402	D	0.000002	T	0.77532	0.4144	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80609	-0.1306	10	0.87932	D	0	.	18.4272	0.90613	0.0:0.0:1.0:0.0	.	1537	Q9P2P5	HECW2_HUMAN	V	1181;1537	ENSP00000386775:A1181V;ENSP00000260983:A1537V	ENSP00000260983:A1537V	A	-	2	0	HECW2	196774355	1.000000	0.71417	0.992000	0.48379	0.030000	0.12068	9.657000	0.98554	2.591000	0.87537	0.650000	0.86243	GCG	HECW2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000138411		0.428	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	-	0	55	0	G	NM_020760		197066110	-1	tier1	-	no_errors	ENST00000260983	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	A	A	197066110	G	A	197066110	3	1	174	1	0	0	0	0	1	0	0	0	7070	1087	38	1	112	1	HECW2	2	197066110	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	17579806	197066110	46133263	28	43552											
ZDBF2	57683	genome.wustl.edu	37	chr2	207172018	207172018	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagtttggattataatatCatttttcattcagtgactgg	11	18	8	4	0	3	1	3	1	0	0	3	2	3	2	0	2	0	2	0	2	4	8			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr2:207172018C>A	ENST00000374423.3	+	5	3152	c.2766C>A	c.(2764-2766)atC>atA	p.I922I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	922							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						ATTATAATATCATTTTTCATT	0.313																																																	0													37	36	36					2																	207172018		1848	4084	5932	SO:0001819	synonymous_variant	0			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.2766C>A	2.37:g.207172018C>A			Q6ZNP7|Q6ZSN8	Silent	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.I922	ENST00000374423.3	37	c.2766	CCDS46501.1	2																																																																																			ZDBF2	-	NULL	ENSG00000204186		0.313	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	-	0	66	0	C	NM_020923		207172018	1	tier1	-	no_errors	ENST00000374423	ensembl	human	known	74_37	silent	22.45	38	11	SNP	0.000	A	A	207172018	C	A	207172018	2	1	174	1	0	0	0	0	0	0	0	1	17647	816	29	3		3	ZDBF2	2	207172018	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	10105908	207172018	36027355	29	43553											
ZDBF2	57683	genome.wustl.edu	37	chr2	207174923	207174923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaggacactgcaccaactCaagctgtgtcagagagtgat	13	7	12	9	0	2	2	2	1	0	1	2	5	2	4	1	2	3	2	1	2	2	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr2:207174923C>G	ENST00000374423.3	+	5	6057	c.5671C>G	c.(5671-5673)Caa>Gaa	p.Q1891E		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1891							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						TGCACCAACTCAAGCTGTGTC	0.433																																																	0													57	56	57					2																	207174923		2004	4171	6175	SO:0001583	missense	0			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.5671C>G	2.37:g.207174923C>G	ENSP00000363545:p.Gln1891Glu		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.Q1891E	ENST00000374423.3	37	c.5671	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333594	0.24167	.	.	ENSG00000204186	ENST00000374423	T	0.48836	0.8	5.49	2.39	0.29439	.	.	.	.	.	T	0.35393	0.0930	L	0.50333	1.59	0.09310	N	1	B	0.34290	0.447	B	0.32393	0.145	T	0.29366	-1.0014	9	0.44086	T	0.13	.	2.8216	0.05473	0.2414:0.4316:0.2364:0.0906	.	1891	Q9HCK1	ZDBF2_HUMAN	E	1891	ENSP00000363545:Q1891E	ENSP00000363545:Q1891E	Q	+	1	0	ZDBF2	206883168	0.406000	0.25344	0.192000	0.23308	0.028000	0.11728	0.100000	0.15231	1.302000	0.44855	0.558000	0.71614	CAA	ZDBF2	-	NULL	ENSG00000204186		0.433	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	-	0	40	0	C	NM_020923		207174923	1	tier1	-	no_errors	ENST00000374423	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.301	G	G	207174923	C	G	207174923	3	3	174	1	0	0	0	0	1	0	0	0	17647	827	29	5	5681	5	ZDBF2	2	207174923	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	2905	207174923	36024450	30	43554											
XRCC5	7520	genome.wustl.edu	37	chr2	217024864	217024864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttcagcgtctccagtctgGctgaaggcagtgtcacctct	7	11	10	13	1	5	1	2	1	3	0	6	1	5	1	2	2	1	2	2	2	1	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr2:217024864G>T	ENST00000392133.3	+	17	2205	c.1744G>T	c.(1744-1746)Gct>Tct	p.A582S	XRCC5_ENST00000392132.2_Missense_Mutation_p.A582S			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	582					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CTCCAGTCTGGCTGAAGGCAG	0.453								Non-homologous end-joining																																									0													79	81	80					2																	217024864		2203	4300	6503	SO:0001583	missense	0			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1744G>T	2.37:g.217024864G>T	ENSP00000375978:p.Ala582Ser		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom	p.A582S	ENST00000392133.3	37	c.1744	CCDS2402.1	2	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729102	0.30684	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.30182	1.54;1.54	5.2	5.2	0.72013	Ku, C-terminal (2);	0.194134	0.45867	D	0.000331	T	0.30293	0.0760	M	0.64997	1.995	0.41269	D	0.986839	B	0.18741	0.03	B	0.17098	0.017	T	0.11767	-1.0574	10	0.08599	T	0.76	.	15.6013	0.76628	0.0:0.0:1.0:0.0	.	582	P13010	XRCC5_HUMAN	S	582	ENSP00000375978:A582S;ENSP00000375977:A582S	ENSP00000375977:A582S	A	+	1	0	XRCC5	216733109	1.000000	0.71417	0.997000	0.53966	0.308000	0.27856	4.205000	0.58466	2.708000	0.92522	0.563000	0.77884	GCT	XRCC5	-	superfamily_Ku_PK_bind	ENSG00000079246		0.453	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC5	HGNC	protein_coding	OTTHUMT00000256675.3	-	0	85	0	G	NM_021141		217024864	1	tier1	-	no_errors	ENST00000392132	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	T	T	217024864	G	T	217024864	3	4	174	1	0	0	0	0	1	0	0	0	17505	1203	42	3	1802	3	XRCC5	2	217024864	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	9849941	217024864	26174509	31	43555											
DLEC1	30	genome.wustl.edu	37	chr3	38163174	38163174	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctctccaccagctGggtggactttgggacctgct	5	10	13	13	0	1	0	0	0	1	0	2	2	1	2	3	3	4	5	3	3	0	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:38163174G>T	ENST00000333167.8	-	0	1785				DLEC1_ENST00000308059.6_Missense_Mutation_p.W1641L|ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000452631.2_Missense_Mutation_p.W1644L|DLEC1_ENST00000346219.3_Missense_Mutation_p.W1641L	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)		TCCACCAGCTGGGTGGACTTT	0.627																																																	0													62	69	67					3																	38163174		2073	4194	6267	SO:0001628	intergenic_variant	0			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38163174G>T			G5E935|Q96CA6	Missense_Mutation	SNP	superfamily_PapD-like	p.W1641L	ENST00000333167.8	37	c.4922	CCDS2673.1	3	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416878	0.42918	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.38240	1.15;1.15;1.15	4.52	4.52	0.55395	.	0.566803	0.17853	N	0.159774	T	0.27313	0.0670	L	0.60455	1.87	0.27964	N	0.93665	B;B;P;B;B	0.38078	0.174;0.174;0.617;0.174;0.174	B;B;B;B;B	0.37144	0.069;0.069;0.242;0.069;0.069	T	0.13548	-1.0505	10	0.10111	T	0.7	-12.8401	4.1933	0.10431	0.0852:0.272:0.4968:0.1459	.	1644;1641;1641;1641;1641	F8W6T4;B1B5Y4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;.;DLEC1_HUMAN	L	1641;1641;1644	ENSP00000308597:W1641L;ENSP00000315914:W1641L;ENSP00000410427:W1644L	ENSP00000308597:W1641L	W	+	2	0	DLEC1	38138178	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.140000	0.31516	2.237000	0.73441	0.556000	0.70494	TGG	DLEC1	-	NULL	ENSG00000008226		0.627	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000342980.1	-	0	37	0	G	NM_001607		38163174	1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	missense	83.33	4	20	SNP	1.000	T	T	38163174	G	T	38163174	1	4	174	0	1	0	0	0	0	0	0	0	4566	1357	47	3		3	DLEC1	3	38163174	IGR	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09		38163174	159859256	32	43556											
CACNA2D3	55799	genome.wustl.edu	37	chr3	54661816	54661816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tctgctttgctgtttcagcaCttcagggagcatctggacaa	8	13	10	10	0	4	0	2	0	2	0	4	2	4	2	0	2	4	5	0	2	1	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:54661816C>A	ENST00000474759.1	+	10	1014	c.966C>A	c.(964-966)caC>caA	p.H322Q	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.H322Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.H228Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.H322Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	322	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TGTTTCAGCACTTCAGGGAGC	0.413																																																	0													91	84	86					3																	54661816		1943	4128	6071	SO:0001583	missense	0			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.966C>A	3.37:g.54661816C>A	ENSP00000419101:p.His322Gln		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.H322Q	ENST00000474759.1	37	c.966	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083163	0.55861	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.37	1.05	0.20165	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	L	0.28504	0.86	0.33361	D	0.572363	D	0.76494	0.999	D	0.83275	0.996	T	0.14448	-1.0472	10	0.12103	T	0.63	.	9.6418	0.39844	0.0:0.5907:0.0:0.4093	.	322	Q8IZS8	CA2D3_HUMAN	Q	322;322;322;228;228;227	ENSP00000389506:H322Q;ENSP00000419101:H322Q;ENSP00000288197:H322Q;ENSP00000417279:H228Q	ENSP00000288197:H322Q	H	+	3	2	CACNA2D3	54636856	0.996000	0.38824	1.000000	0.80357	0.954000	0.61252	0.366000	0.20365	0.273000	0.22049	-0.254000	0.11334	CAC	CACNA2D3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000157445		0.413	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	-	0	40	0	C			54661816	1	tier1	-	no_errors	ENST00000288197	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.995	A	A	54661816	C	A	54661816	3	1	174	1	0	0	0	0	1	0	0	0	2557	564	20	3	1004	3	CACNA2D3	3	54661816	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	16498642	54661816	143360614	33	43557											
C3orf63	23272	genome.wustl.edu	37	chr3	56662638	56662638	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattgcctaatttgataagaTattcctgttaaagaaaaaca	17	14	5	5	0	0	3	0	1	0	2	1	3	1	3	2	0	2	1	2	0	8	8	rs377606389		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:56662638T>C	ENST00000493960.2	-	19	3762	c.3752A>G	c.(3751-3753)tAt>tGt	p.Y1251C	FAM208A_ENST00000355628.5_Missense_Mutation_p.Y1190C|FAM208A_ENST00000431842.2_Missense_Mutation_p.Y814C|FAM208A_ENST00000485156.1_5'Flank	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1251							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						TTTGATAAGATATTCCTGTTA	0.254																																																	0													46	46	46					3																	56662638		2195	4288	6483	SO:0001583	missense	0			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.3752A>G	3.37:g.56662638T>C	ENSP00000417509:p.Tyr1251Cys		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.Y1190C	ENST00000493960.2	37	c.3569	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049769	0.75846	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.57907	0.37;0.37;0.37	5.45	5.45	0.79879	.	0.093431	0.47852	D	0.000216	T	0.71134	0.3304	M	0.67953	2.075	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.997	T	0.74592	-0.3614	10	0.87932	D	0	-15.6871	15.8079	0.78531	0.0:0.0:0.0:1.0	.	1251;1190;814;1251	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	C	814;1251;1190	ENSP00000399410:Y814C;ENSP00000417509:Y1251C;ENSP00000347845:Y1190C	ENSP00000347845:Y1190C	Y	-	2	0	C3orf63	56637678	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.486000	0.66856	2.196000	0.70406	0.454000	0.30748	TAT	FAM208A	-	NULL	ENSG00000163946		0.254	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	-	0	92	0	T	NM_015224		56662638	-1	tier1	-	no_errors	ENST00000355628	ensembl	human	known	74_37	missense	24.56	43	14	SNP	1.000	C	C	56662638	T	C	56662638	3	2	174	1	0	0	0	0	1	0	0	0	2246	1406	49	4	1344	4	C3orf63	3	56662638	Missense_Mutation	SNP	T	TCGA-VR-AA7B-01A-31D-A403-09	2000822	56662638	141359792	34	43558											
DNAH12	201625	genome.wustl.edu	37	chr3	57391391	57391391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catactcactggtgcattttGtttcctcaaatgtgaaaaga	12	14	7	8	0	2	2	2	1	0	1	3	2	3	2	1	1	2	2	1	1	4	4	rs545635344	byFrequency	TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:57391391G>T	ENST00000351747.2	-	41	6688	c.6508C>A	c.(6508-6510)Caa>Aaa	p.Q2170K		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2170					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						GGTGCATTTTGTTTCCTCAAA	0.289													G|||	2	0.000399361	0	0	5008	,	,		19176	0.002		0	False		,,,				2504	0																0													56	45	48					3																	57391391		692	1591	2283	SO:0001583	missense	0			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.6508C>A	3.37:g.57391391G>T	ENSP00000295937:p.Gln2170Lys		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q2170K	ENST00000351747.2	37	c.6508		3	.	.	.	.	.	.	.	.	.	.	G	3.291	-0.144873	0.06627	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.21543	2.15;2.0	5.92	4.14	0.48551	.	.	.	.	.	T	0.09113	0.0225	N	0.05124	-0.11	0.39194	D	0.96302	B	0.02656	0.0	B	0.01281	0.0	T	0.13335	-1.0513	9	0.07030	T	0.85	.	11.5707	0.50832	0.0:0.8018:0.1305:0.0677	.	2170	Q6ZR08	DYH12_HUMAN	K	2170;2189	ENSP00000295937:Q2170K;ENSP00000418137:Q2189K	ENSP00000295937:Q2170K	Q	-	1	0	DNAH12	57366431	0.990000	0.36364	0.257000	0.24404	0.827000	0.46813	2.536000	0.45693	0.838000	0.34948	-0.171000	0.13296	CAA	DNAH12	-	NULL	ENSG00000174844		0.289	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding			0	50	0	G	NM_178504		57391391	-1			no_errors	ENST00000351747	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.443	T	T	57391391	G	T	57391391	3	4	174	1	0	0	0	0	1	0	0	0	4614	1386	48	3	2846	3	DNAH12	3	57391391	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	728753	57391391	140631039	35	43559											
MYH15	22989	genome.wustl.edu	37	chr3	108163547	108163547	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggatacttgctttgctttCagttcctccctctgaaactc	7	15	7	12	0	2	1	1	1	1	0	5	2	4	2	2	1	4	3	2	1	2	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:108163547C>T	ENST00000273353.3	-	23	2711	c.2655G>A	c.(2653-2655)ctG>ctA	p.L885L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	885						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						GCTTTGCTTTCAGTTCCTCCC	0.408																																																	0													120	112	115					3																	108163547		1890	4128	6018	SO:0001819	synonymous_variant	0			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.2655G>A	3.37:g.108163547C>T				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.L885	ENST00000273353.3	37	c.2655	CCDS43127.1	3																																																																																			MYH15	-	NULL	ENSG00000144821		0.408	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	-	0	59	0	C	XM_036988		108163547	-1	tier1	-	no_errors	ENST00000273353	ensembl	human	known	74_37	silent	14.94	74	13	SNP	0.994	T	T	108163547	C	T	108163547	2	4	174	1	0	0	0	0	0	0	0	1	10072	813	29	3		3	MYH15	3	108163547	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	50772156	108163547	89858883	36	43560											
KTELC1	56983	genome.wustl.edu	37	chr3	119204210	119204210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatggaaaaagaaaaactCtacagcatatttccgaggat	17	8	8	8	1	1	1	0	0	1	1	2	4	2	3	2	2	3	1	2	2	6	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:119204210C>G	ENST00000295588.4	+	6	698	c.614C>G	c.(613-615)tCt>tGt	p.S205C		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	205					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						AAGAAAAACTCTACAGCATAT	0.308																																																	0													109	118	115					3																	119204210		2203	4300	6503	SO:0001583	missense	0			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.614C>G	3.37:g.119204210C>G	ENSP00000295588:p.Ser205Cys		B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	pfam_LipoPS_modifying,smart_LipoPS_modifying	p.S205C	ENST00000295588.4	37	c.614	CCDS2988.1	3	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376001	0.82682	.	.	ENSG00000163389	ENST00000295588	T	0.24538	1.85	5.32	5.32	0.75619	.	0.181752	0.50627	D	0.000120	T	0.48822	0.1521	M	0.72118	2.19	0.45427	D	0.998405	D	0.69078	0.997	D	0.66351	0.943	T	0.49597	-0.8923	10	0.87932	D	0	-16.0081	14.8705	0.70453	0.0:1.0:0.0:0.0	.	205	Q8NBL1	PGLT1_HUMAN	C	205	ENSP00000295588:S205C	ENSP00000295588:S205C	S	+	2	0	POGLUT1	120686900	0.989000	0.36119	1.000000	0.80357	0.995000	0.86356	6.687000	0.74552	2.634000	0.89283	0.655000	0.94253	TCT	POGLUT1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000163389		0.308	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POGLUT1	HGNC	protein_coding	OTTHUMT00000355034.2	-	0	123	0	C	NM_152305		119204210	1	tier1	-	no_errors	ENST00000295588	ensembl	human	known	74_37	missense	11.29	165	21	SNP	0.996	G	G	119204210	C	G	119204210	3	3	174	1	0	0	0	0	1	0	0	0	8611	913	32	5	636	5	KTELC1	3	119204210	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	11040663	119204210	78818220	37	43561											
POLQ	10721	genome.wustl.edu	37	chr3	121230769	121230769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcatgctgccagttacttCttctccttctcgtctttgca	5	18	5	13	1	5	0	1	0	4	0	7	0	5	0	2	0	4	3	2	0	2	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:121230769C>T	ENST00000264233.5	-	10	1704	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	526	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		CCAGTTACTTCTTCTCCTTCT	0.373								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													114	110	111					3																	121230769		2203	4300	6503	SO:0001583	missense	0			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.1576G>A	3.37:g.121230769C>T	ENSP00000264233:p.Glu526Lys		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.E526K	ENST00000264233.5	37	c.1576	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941532	0.73557	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.51817	0.69	4.73	4.73	0.59995	Helicase, C-terminal (1);	0.122041	0.53938	D	0.000054	T	0.45216	0.1331	L	0.45352	1.415	0.48975	D	0.999734	B	0.29341	0.242	B	0.33196	0.159	T	0.40478	-0.9561	10	0.37606	T	0.19	.	17.7022	0.88298	0.0:1.0:0.0:0.0	.	526	O75417	DPOLQ_HUMAN	K	149;526;662	ENSP00000264233:E526K	ENSP00000264233:E526K	E	-	1	0	POLQ	122713459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.923000	0.63412	2.148000	0.66965	0.462000	0.41574	GAA	POLQ	-	pfscan_Helicase_C	ENSG00000051341		0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0	89	0	C	NM_199420		121230769	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	18.35	89	20	SNP	1.000	T	T	121230769	C	T	121230769	3	4	174	1	0	0	0	0	1	0	0	0	12247	922	32	3	6280	3	POLQ	3	121230769	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	2026559	121230769	76791661	38	43562											
PLXND1	23129	genome.wustl.edu	37	chr3	129279267	129279267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggctccgccagctcgtccGtaggcagcacctgggaggcc	5	6	15	15	3	0	0	0	0	0	0	3	1	2	1	5	4	2	5	5	4	1	1	rs569800532		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:129279267G>A	ENST00000324093.4	-	31	5217	c.5039C>T	c.(5038-5040)aCg>aTg	p.T1680M	PLXND1_ENST00000393239.1_Missense_Mutation_p.T1680M	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1680					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)	p.T1680M(1)	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						CAGCTCGTCCGTAGGCAGCAC	0.647																																					Ovarian(97;366 1484 3738 22084 39045)												1	Substitution - Missense(1)	large_intestine(1)											52	44	47					3																	129279267		2203	4300	6503	SO:0001583	missense	0			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.5039C>T	3.37:g.129279267G>A	ENSP00000317128:p.Thr1680Met		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.T1680M	ENST00000324093.4	37	c.5039	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130825	0.37630	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.12255	2.7;2.7	4.85	4.85	0.62838	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.268174	0.34067	N	0.004296	T	0.28764	0.0713	L	0.37561	1.115	0.48696	D	0.999692	P;D	0.89917	0.95;1.0	B;D	0.69307	0.398;0.963	T	0.03193	-1.1062	10	0.72032	D	0.01	.	17.9837	0.89150	0.0:0.0:1.0:0.0	.	275;1680	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	M	1680	ENSP00000317128:T1680M;ENSP00000376931:T1680M	ENSP00000317128:T1680M	T	-	2	0	PLXND1	130761957	1.000000	0.71417	0.992000	0.48379	0.073000	0.16967	5.498000	0.66931	2.244000	0.73946	0.462000	0.41574	ACG	PLXND1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000004399		0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	-	0	41	0	G	NM_015103		129279267	-1	tier1	-	no_errors	ENST00000324093	ensembl	human	known	74_37	missense	23.08	40	12	SNP	0.971	A	A	129279267	G	A	129279267	3	1	174	1	0	0	0	0	1	0	0	0	12166	1145	40	1	762	1	PLXND1	3	129279267	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	8048498	129279267	68743163	39	43563											
SLITRK3	22865	genome.wustl.edu	37	chr3	164907208	164907208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggaacatgcctggtgtcaGcttctctatatcgttgccat	7	14	9	11	2	2	0	1	0	1	0	5	1	2	1	2	2	4	2	2	2	3	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:164907208G>A	ENST00000475390.1	-	2	1854	c.1411C>T	c.(1411-1413)Ctg>Ttg	p.L471L	SLITRK3_ENST00000241274.3_Silent_p.L471L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	471					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTGGTGTCAGCTTCTCTATA	0.483										HNSCC(40;0.11)																																							0													60	62	61					3																	164907208		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1411C>T	3.37:g.164907208G>A			Q1RMY6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L471	ENST00000475390.1	37	c.1411	CCDS3197.1	3																																																																																			SLITRK3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000121871		0.483	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0	50	0	G	NM_014926		164907208	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	silent	8.18	101	9	SNP	1.000	A	A	164907208	G	A	164907208	2	1	174	1	0	0	0	0	0	0	0	1	14789	962	34	3		3	SLITRK3	3	164907208	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	35627941	164907208	33115222	40	43564											
LRRIQ4	344657	genome.wustl.edu	37	chr3	169539752	169539752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaacattcacctaaaattCatcagagaaatgatccacag	18	9	5	9	0	3	3	3	1	0	2	4	4	4	3	2	0	1	0	2	0	5	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:169539752C>G	ENST00000340806.6	+	1	43	c.43C>G	c.(43-45)Cat>Gat	p.H15D		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	15										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACCTAAAATTCATCAGAGAAA	0.328																																																	0													65	62	63					3																	169539752		1873	4107	5980	SO:0001583	missense	0				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.43C>G	3.37:g.169539752C>G	ENSP00000342188:p.His15Asp			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.H15D	ENST00000340806.6	37	c.43	CCDS46951.1	3	.	.	.	.	.	.	.	.	.	.	C	9.052	0.992225	0.18966	.	.	ENSG00000188306	ENST00000340806	T	0.30714	1.52	5.07	4.19	0.49359	.	1.545080	0.03439	N	0.209058	T	0.22282	0.0537	N	0.14661	0.345	0.09310	N	1	B	0.19583	0.037	B	0.18871	0.023	T	0.19811	-1.0294	10	0.24483	T	0.36	.	9.5991	0.39591	0.0:0.8377:0.0:0.1623	.	15	A6NIV6	LRIQ4_HUMAN	D	15	ENSP00000342188:H15D	ENSP00000342188:H15D	H	+	1	0	LRRIQ4	171022446	0.001000	0.12720	0.020000	0.16555	0.102000	0.19082	0.637000	0.24659	1.271000	0.44313	0.561000	0.74099	CAT	LRRIQ4	-	NULL	ENSG00000188306		0.328	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRIQ4	HGNC	protein_coding	OTTHUMT00000378698.1	-	0	63	0	C	NM_001080460		169539752	1	tier1	-	no_errors	ENST00000340806	ensembl	human	known	74_37	missense	11.64	129	17	SNP	0.069	G	G	169539752	C	G	169539752	3	3	174	1	0	0	0	0	1	0	0	0	9066	826	29	5	45	5	LRRIQ4	3	169539752	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	4632544	169539752	28482678	41	43565											
MCF2L2	23101	genome.wustl.edu	37	chr3	182933848	182933848	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcttgttgtagttcagttGagaatgctgaatctttggtt	9	17	11	4	0	2	2	1	2	1	1	2	3	2	2	0	1	2	7	0	1	4	7			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:182933848G>C	ENST00000328913.3	-	22	2702	c.2405C>G	c.(2404-2406)tCa>tGa	p.S802*	MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.S802*	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	802	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						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)			TAGTTCAGTTGAGAATGCTGA	0.433																																																	0													268	236	246					3																	182933848		2203	4300	6503	SO:0001587	stop_gained	0			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.2405C>G	3.37:g.182933848G>C	ENSP00000328118:p.Ser802*		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S802*	ENST00000328913.3	37	c.2405	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597016	0.66332	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	.	.	.	4.29	1.26	0.21427	.	0.447497	0.19966	N	0.102109	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	6.3153	0.21186	0.3528:0.0:0.6472:0.0	.	.	.	.	X	802	.	ENSP00000328118:S802X	S	-	2	0	MCF2L2	184416542	0.995000	0.38212	0.008000	0.14137	0.088000	0.18126	1.505000	0.35736	0.130000	0.18549	0.655000	0.94253	TCA	MCF2L2	-	superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000053524		0.433	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	-	0	69	0	G	NM_015078		182933848	-1	tier1	-	no_errors	ENST00000328913	ensembl	human	known	74_37	nonsense	21.18	67	18	SNP	0.081	C	C	182933848	G	C	182933848	4	2	174	1	0	0	0	0	0	1	0	0	9418	1294	45	5	975	5	MCF2L2	3	182933848	Nonsense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	13394096	182933848	15088582	42	43566											
THPO	7066	genome.wustl.edu	37	chr3	184091254	184091254	+	Silent	SNP	A	A	G	1	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	aggaggagacggacctgtccAgaaagctgccccaggaggga	12	3	16	10	1	0	2	0	0	0	2	1	7	1	6	4	5	2	1	4	5	1	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:184091254A>G	ENST00000204615.7	-	5	559	c.345T>C	c.(343-345)tcT>tcC	p.S115S	THPO_ENST00000477594.1_5'Flank|THPO_ENST00000421442.2_Silent_p.S115S|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Silent_p.S115S	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	115					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGACCTGTCCAGAAAGCTGCC	0.582																																																	0													83	73	76					3																	184091254		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.345T>C	3.37:g.184091254A>G			A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Silent	SNP	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	p.S115	ENST00000204615.7	37	c.345	CCDS3265.1	3																																																																																			THPO	-	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	ENSG00000090534		0.582	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THPO	HGNC	protein_coding	OTTHUMT00000345554.1	-	0	55	0	A	NM_000460		184091254	-1	tier1	-	no_errors	ENST00000204615	ensembl	human	known	74_37	silent	15.52	49	9	SNP	0.989	G	G	184091254	A	G	184091254	2	3	174	1	0	0	0	0	0	0	0	1	15919	175	7	4		4	THPO	3	184091254	Silent	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09	1157406	184091254	13931176	43	43567											
IQCG	84223	genome.wustl.edu	37	chr3	197639584	197639584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacatttcaatctctgtatGagtccgggcctcttcttcgg	7	14	9	11	2	4	1	1	1	3	0	7	2	5	1	2	2	1	1	2	2	3	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr3:197639584G>C	ENST00000265239.6	-	9	1349	c.925C>G	c.(925-927)Cat>Gat	p.H309D	IQCG_ENST00000455191.1_Missense_Mutation_p.H309D	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	309						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ATCTCTGTATGAGTCCGGGCC	0.448																																																	0													177	191	186					3																	197639584		2203	4300	6503	SO:0001583	missense	0			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.925C>G	3.37:g.197639584G>C	ENSP00000265239:p.His309Asp		Q9BST2|Q9HAG8	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.H309D	ENST00000265239.6	37	c.925	CCDS3331.1	3	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587010	0.46110	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	T;T	0.53206	0.63;0.63	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.71922	-0.4446	10	0.51188	T	0.08	-19.5725	18.4723	0.90779	0.0:0.0:1.0:0.0	.	309	Q9H095	IQCG_HUMAN	D	309	ENSP00000265239:H309D;ENSP00000407736:H309D	ENSP00000265239:H309D	H	-	1	0	IQCG	199123981	1.000000	0.71417	0.986000	0.45419	0.025000	0.11179	5.710000	0.68392	2.665000	0.90641	0.638000	0.83543	CAT	IQCG	-	NULL	ENSG00000114473		0.448	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	-	0	85	0	G	NM_032263		197639584	-1	tier1	-	no_errors	ENST00000265239	ensembl	human	known	74_37	missense	28.04	76	30	SNP	1.000	C	C	197639584	G	C	197639584	3	2	174	1	0	0	0	0	1	0	0	0	7837	1290	45	5	422	5	IQCG	3	197639584	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	13548330	197639584	382846	44	43568											
GRK4	2868	genome.wustl.edu	37	chr4	2993963	2993963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaatatgaagttgccgatGatgaggaccgaagtgattgt	13	10	13	5	2	0	5	0	4	0	1	0	8	0	6	2	1	1	1	2	1	4	3	rs13305979	byFrequency	TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr4:2993963G>A	ENST00000398052.4	+	4	626	c.283G>A	c.(283-285)Gat>Aat	p.D95N	GRK4_ENST00000504933.1_Missense_Mutation_p.D95N|GRK4_ENST00000345167.6_Missense_Mutation_p.D63N|GRK4_ENST00000398051.4_Missense_Mutation_p.D63N	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	95	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.		D -> H (in dbSNP:rs13305979).		G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTTGCCGATGATGAGGACCG	0.383																																																	0													141	139	139					4																	2993963		2203	4300	6503	SO:0001583	missense	0				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.283G>A	4.37:g.2993963G>A	ENSP00000381129:p.Asp95Asn		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.D95N	ENST00000398052.4	37	c.283	CCDS33946.1	4	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953240	0.73902	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.02579	4.24;4.24;4.24;4.24	5.33	4.48	0.54585	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.060780	0.64402	U	0.000005	T	0.15003	0.0362	M	0.82193	2.58	0.53688	D	0.999974	D;P;D;D	0.59357	0.981;0.915;0.981;0.985	P;P;P;D	0.64877	0.767;0.729;0.706;0.93	T	0.00567	-1.1667	10	0.62326	D	0.03	-16.0908	14.0361	0.64646	0.0:0.1526:0.8474:0.0	.	63;63;95;95	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	N	63;95;63;95	ENSP00000381128:D63N;ENSP00000381129:D95N;ENSP00000264764:D63N;ENSP00000427445:D95N	ENSP00000264764:D63N	D	+	1	0	GRK4	2963761	1.000000	0.71417	0.021000	0.16686	0.021000	0.10359	7.177000	0.77650	1.365000	0.46057	0.650000	0.86243	GAT	GRK4	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000125388		0.383	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2	-	0	65	0	G	NM_005307		2993963	1	tier1	-	no_errors	ENST00000398052	ensembl	human	known	74_37	missense	16.67	45	9	SNP	0.985	A	A	2993963	G	A	2993963	3	1	174	1	0	0	0	0	1	0	0	0	6818	1290	45	3	297	3	GRK4	4	2993963	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09		2993963	188160313	45	43569											
BEND4	389206	genome.wustl.edu	37	chr4	42145544	42145544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgaggacaatagccttcctCgtcctcctcctcctcctctt	5	13	5	18	2	1	0	0	0	1	0	9	2	7	1	7	1	1	0	7	1	2	3	rs552724030		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr4:42145544C>T	ENST00000502486.1	-	3	1534	c.955G>A	c.(955-957)Gag>Aag	p.E319K	BEND4_ENST00000504360.1_Missense_Mutation_p.E315K	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	319										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TAGCCTtcctcgtcctcctcc	0.517													C|||	1	0.000199681	0	0	5008	,	,		17916	0		0	False		,,,				2504	0.001																0													52	48	50					4																	42145544		2008	4144	6152	SO:0001583	missense	0			AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.955G>A	4.37:g.42145544C>T	ENSP00000421169:p.Glu319Lys		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	pfam_BEN_domain	p.E319K	ENST00000502486.1	37	c.955	CCDS47048.1	4	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072821	0.76415	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.59	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	N	0.24115	0.695	0.52501	D	0.999959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.986;0.994	T	0.69518	-0.5124	9	0.87932	D	0	-14.7625	15.4	0.74830	0.1403:0.8597:0.0:0.0	.	241;319;319	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	K	190;319;315	.	ENSP00000412495:E190K	E	-	1	0	BEND4	41840301	1.000000	0.71417	0.992000	0.48379	0.517000	0.34286	7.487000	0.81328	1.333000	0.45449	0.563000	0.77884	GAG	BEND4	-	NULL	ENSG00000188848		0.517	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	HGNC	protein_coding	OTTHUMT00000360975.2	-	0	42	0	C	NM_207406		42145544	-1	tier1	-	no_errors	ENST00000502486	ensembl	human	known	74_37	missense	30.77	17	8	SNP	1.000	T	T	42145544	C	T	42145544	3	4	174	1	0	0	0	0	1	0	0	0	1401	893	31	1	665	1	BEND4	4	42145544	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	39151581	42145544	149008732	46	43570											
SCFD2	152579	genome.wustl.edu	37	chr4	54231952	54231952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaactctcgcaggtgacagtCaggaccccccaccgcctcca	9	5	9	18	2	2	1	1	1	1	0	4	3	3	2	6	2	1	1	6	2	1	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr4:54231952C>G	ENST00000401642.3	-	1	290	c.157G>C	c.(157-159)Gac>Cac	p.D53H	SCFD2_ENST00000388940.4_Missense_Mutation_p.D53H	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	53					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)			AGGTGACAGTCAGGACCCCCC	0.647																																																	0													50	49	50					4																	54231952		2203	4300	6503	SO:0001583	missense	0			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.157G>C	4.37:g.54231952C>G	ENSP00000384182:p.Asp53His		Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.D53H	ENST00000401642.3	37	c.157	CCDS33984.1	4	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348617	0.24426	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.42131	0.98;0.98	5.21	4.37	0.52481	.	0.663319	0.15200	N	0.275052	T	0.26122	0.0637	N	0.08118	0	0.09310	N	0.999999	B;B	0.33512	0.415;0.291	B;B	0.34301	0.179;0.087	T	0.22521	-1.0214	10	0.72032	D	0.01	.	12.0651	0.53583	0.0:0.9164:0.0:0.0836	.	53;53	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	H	53	ENSP00000384182:D53H;ENSP00000373592:D53H	ENSP00000373592:D53H	D	-	1	0	SCFD2	53926709	0.950000	0.32346	0.070000	0.20053	0.086000	0.17979	1.529000	0.35996	1.568000	0.49683	0.561000	0.74099	GAC	SCFD2	-	NULL	ENSG00000184178		0.647	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD2	HGNC	protein_coding	OTTHUMT00000361311.3	-	0	39	0	C	NM_152540		54231952	-1	tier1	-	no_errors	ENST00000401642	ensembl	human	known	74_37	missense	22.22	35	10	SNP	0.394	G	G	54231952	C	G	54231952	3	3	174	1	0	0	0	0	1	0	0	0	13935	826	29	5	1933	5	SCFD2	4	54231952	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	12086408	54231952	136922324	47	43571											
GRID2	2895	genome.wustl.edu	37	chr4	94693600	94693600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccttatcaaccaactcctaCcctggggctcaatctgggta	9	11	7	14	0	3	0	2	0	1	0	5	0	5	0	4	3	3	2	4	3	6	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr4:94693600C>T	ENST00000282020.4	+	16	3233	c.2975C>T	c.(2974-2976)aCc>aTc	p.T992I	GRID2_ENST00000510992.1_Missense_Mutation_p.T897I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	992					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)		CCAACTCCTACCCTGGGGCTC	0.468																																																	0													62	62	62					4																	94693600		2203	4300	6503	SO:0001583	missense	0			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.2975C>T	4.37:g.94693600C>T	ENSP00000282020:p.Thr992Ile		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T992I	ENST00000282020.4	37	c.2975	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	C	12.53	1.967009	0.34754	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.14266	2.57;2.52	5.39	3.62	0.41486	.	0.415893	0.28555	N	0.014934	T	0.08044	0.0201	N	0.08118	0	0.31168	N	0.703498	B;B	0.19583	0.037;0.037	B;B	0.18263	0.021;0.021	T	0.05699	-1.0869	10	0.72032	D	0.01	.	12.2348	0.54510	0.1356:0.7343:0.1301:0.0	.	897;992	E9PH24;O43424	.;GRID2_HUMAN	I	992;897	ENSP00000282020:T992I;ENSP00000421257:T897I	ENSP00000282020:T992I	T	+	2	0	GRID2	94912623	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.762000	0.62250	0.609000	0.30018	-0.319000	0.08680	ACC	GRID2	-	NULL	ENSG00000152208		0.468	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2		0	38	0	C			94693600	1			no_errors	ENST00000282020	ensembl	human	known	74_37	missense	15.38	11	2	SNP	0.998	T	T	94693600	C	T	94693600	3	4	174	1	0	0	0	0	1	0	0	0	6799	507	18	3	3037	3	GRID2	4	94693600	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	40461648	94693600	96460676	48	43572											
EGF	1950	genome.wustl.edu	37	chr4	110915911	110915911	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctactccaccccctcacctCagggaagatgaccaccacta	11	7	5	18	0	3	2	2	1	1	1	4	3	4	3	6	1	1	0	6	1	3	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr4:110915911C>T	ENST00000265171.5	+	20	3325	c.2880C>T	c.(2878-2880)ctC>ctT	p.L960L	EGF_ENST00000509793.1_Silent_p.L918L|RNU6-35P_ENST00000384530.1_RNA|EGF_ENST00000503392.1_Silent_p.L919L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	960					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CCCCTCACCTCAGGGAAGATG	0.433																																																	0													142	128	133					4																	110915911		2203	4300	6503	SO:0001819	synonymous_variant	0			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2880C>T	4.37:g.110915911C>T			B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.L960	ENST00000265171.5	37	c.2880	CCDS3689.1	4																																																																																			EGF	-	pirsf_Pro-epidermal_GF	ENSG00000138798		0.433	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	-	0	47	0	C			110915911	1	tier1	-	no_errors	ENST00000265171	ensembl	human	known	74_37	silent	20.00	28	7	SNP	0.000	T	T	110915911	C	T	110915911	2	4	174	1	0	0	0	0	0	0	0	1	4976	813	29	3		3	EGF	4	110915911	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	16222311	110915911	80238365	49	43573											
FAT4	79633	genome.wustl.edu	37	chr4	126372870	126372870	+	Missense_Mutation	SNP	A	A	G	1	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	tgagcactgctggagttctgAgcacaaccagagagattgac	12	8	12	9	0	1	5	0	3	1	2	1	7	1	6	1	1	4	4	1	1	1	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr4:126372870A>G	ENST00000394329.3	+	9	10712	c.10699A>G	c.(10699-10701)Agc>Ggc	p.S3567G	FAT4_ENST00000335110.5_Missense_Mutation_p.S1865G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3567	Cadherin 34. {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						TGGAGTTCTGAGCACAACCAG	0.473																																																	0													114	115	114					4																	126372870		2203	4300	6503	SO:0001583	missense	0			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.10699A>G	4.37:g.126372870A>G	ENSP00000377862:p.Ser3567Gly		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S3567G	ENST00000394329.3	37	c.10699	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	15.02	2.709408	0.48517	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.56103	0.48;0.48	5.91	5.91	0.95273	Cadherin (4);Cadherin-like (1);	0.201931	0.23902	U	0.043437	T	0.52773	0.1755	M	0.67625	2.065	0.44149	D	0.996946	B;B;B	0.33549	0.417;0.39;0.287	B;B;B	0.33295	0.116;0.161;0.109	T	0.50499	-0.8821	10	0.26408	T	0.33	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	1865;3567;3567	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	G	3567;1865	ENSP00000377862:S3567G;ENSP00000335169:S1865G	ENSP00000335169:S1865G	S	+	1	0	FAT4	126592320	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	9.149000	0.94659	2.254000	0.74563	0.533000	0.62120	AGC	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	25	0	A	NM_024582		126372870	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	G	G	126372870	A	G	126372870	3	3	174	1	0	0	0	0	1	0	0	0	5714	304	11	4	10733	4	FAT4	4	126372870	Missense_Mutation	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09	15456959	126372870	64781406	50	43574											
SMARCA5	8467	genome.wustl.edu	37	chr4	144459835	144459835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attatgagtactgcaggttgGatggtcagacaccccatgat	11	11	11	8	0	1	3	1	2	0	1	1	4	1	4	2	3	2	3	2	3	2	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr4:144459835G>T	ENST00000283131.3	+	12	2050	c.1588G>T	c.(1588-1590)Gat>Tat	p.D530Y		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	530	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CTGCAGGTTGGATGGTCAGAC	0.378																																																	0													88	88	88					4																	144459835		2203	4300	6503	SO:0001583	missense	0			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.1588G>T	4.37:g.144459835G>T	ENSP00000283131:p.Asp530Tyr			Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D530Y	ENST00000283131.3	37	c.1588	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840220	0.91117	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	T	0.77358	-1.09	5.86	5.86	0.93980	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93736	0.7998	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95653	0.8708	10	0.87932	D	0	-35.0618	20.1894	0.98226	0.0:0.0:1.0:0.0	.	530	O60264	SMCA5_HUMAN	Y	530;473;473	ENSP00000283131:D530Y	ENSP00000283131:D530Y	D	+	1	0	SMARCA5	144679285	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.800000	0.99124	2.781000	0.95711	0.591000	0.81541	GAT	SMARCA5	-	pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000153147		0.378	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3		0	104	0	G			144459835	1			no_errors	ENST00000283131	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	144459835	G	T	144459835	3	4	174	1	0	0	0	0	1	0	0	0	14816	1174	41	3	1634	3	SMARCA5	4	144459835	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	18086965	144459835	46694441	51	43575											
RAPGEF2	9693	genome.wustl.edu	37	chr4	160268112	160268112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccgtgtccctttatccttCacggaagaaagtgcccgtaa	9	10	9	13	4	1	1	1	0	0	1	3	2	3	2	4	1	1	1	4	1	4	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr4:160268112C>T	ENST00000264431.4	+	19	3610	c.3191C>T	c.(3190-3192)tCa>tTa	p.S1064L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1064					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTTTATCCTTCACGGAAGAAA	0.483																																																	0													77	86	83					4																	160268112		1948	4152	6100	SO:0001583	missense	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3191C>T	4.37:g.160268112C>T	ENSP00000264431:p.Ser1064Leu		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S1064L	ENST00000264431.4	37	c.3191	CCDS43277.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.26|12.26	1.883596|1.883596	0.33255|0.33255	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000264431	.|T	.|0.37752	.|1.18	6.17|6.17	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31827|0.31827	0.0809|0.0809	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B	.|0.12013	.|0.005	.|B	.|0.04013	.|0.001	T|T	0.10730|0.10730	-1.0617|-1.0617	5|10	.|0.13470	.|T	.|0.59	.|.	15.5517|15.5517	0.76158|0.76158	0.0:0.9345:0.0:0.0655|0.0:0.9345:0.0:0.0655	.|.	.|1064	.|Q9Y4G8	.|RPGF2_HUMAN	Y|L	96|1064	.|ENSP00000264431:S1064L	.|ENSP00000264431:S1064L	H|S	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160487562|160487562	1.000000|1.000000	0.71417|0.71417	0.069000|0.069000	0.20011|0.20011	0.783000|0.783000	0.44284|0.44284	7.818000|7.818000	0.86416|0.86416	1.635000|1.635000	0.50512|0.50512	0.655000|0.655000	0.94253|0.94253	CAC|TCA	RAPGEF2	-	NULL	ENSG00000109756		0.483	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	-	0	74	0	C	NM_014247		160268112	1	tier1	-	no_errors	ENST00000264431	ensembl	human	known	74_37	missense	20.83	38	10	SNP	0.995	T	T	160268112	C	T	160268112	3	4	174	1	0	0	0	0	1	0	0	0	13089	838	29	3	3265	3	RAPGEF2	4	160268112	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	15808277	160268112	30886164	52	43576											
AADAT	51166	genome.wustl.edu	37	chr4	170983068	170983068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatctgttctggagaagctGaagagaaggatgctctcaag	12	9	12	8	0	3	3	1	1	3	2	4	6	3	4	1	2	2	3	1	2	4	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr4:170983068G>A	ENST00000337664.4	-	12	1487	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L	AADAT_ENST00000515480.1_Missense_Mutation_p.S404L|AADAT_ENST00000509167.1_Missense_Mutation_p.S408L|AADAT_ENST00000353187.2_Missense_Mutation_p.S404L	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	404					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)		TGGAGAAGCTGAAGAGAAGGA	0.423																																																	0													131	112	118					4																	170983068		2203	4300	6503	SO:0001583	missense	0			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.1211C>T	4.37:g.170983068G>A	ENSP00000336808:p.Ser404Leu		B3KP84|Q9UL02	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.S408L	ENST00000337664.4	37	c.1223	CCDS3814.1	4	.	.	.	.	.	.	.	.	.	.	G	0.175	-1.067347	0.01934	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73	5.63	-4.32	0.03688	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.647515	0.14925	N	0.290404	T	0.67590	0.2909	N	0.01809	-0.71	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.63708	-0.6576	10	0.10111	T	0.7	1.4911	6.7889	0.23689	0.5798:0.0:0.3164:0.1038	.	408;404	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	L	404;404;408;404	ENSP00000336808:S404L;ENSP00000423341:S404L;ENSP00000423190:S408L;ENSP00000226840:S404L	ENSP00000336808:S404L	S	-	2	0	AADAT	171219643	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	0.939000	0.28978	-0.832000	0.04251	-0.156000	0.13503	TCA	AADAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000109576		0.423	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	AADAT	HGNC	protein_coding	OTTHUMT00000362952.1	-	0	32	0	G	NM_016228		170983068	-1	tier1	-	no_errors	ENST00000509167	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.000	A	A	170983068	G	A	170983068	3	1	174	1	0	0	0	0	1	0	0	0	14	1294	45	3	74	3	AADAT	4	170983068	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	10714956	170983068	20171208	53	43577											
PAM	5066	genome.wustl.edu	37	chr5	102363888	102363888	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccatctttttttagcaGattctgaacacaaactcgag	11	14	7	9	1	2	2	0	1	2	1	3	3	2	2	1	0	4	1	1	0	3	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr5:102363888G>T	ENST00000438793.3	+	24	3159		c.e24-1		PAM_ENST00000274392.9_Splice_Site|PAM_ENST00000455264.2_Splice_Site|PAM_ENST00000348126.2_Splice_Site|PAM_ENST00000379787.4_Intron|PAM_ENST00000304400.7_Missense_Mutation_p.D898Y|PAM_ENST00000346918.2_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						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)	TTTTTTAGCAGATTCTGAACA	0.388																																																	0													153	147	149					5																	102363888		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2690-1G>T	5.37:g.102363888G>T			A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Splice_Site	SNP	-	e24-1	ENST00000438793.3	37	c.2690-1	CCDS54885.1	5	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	22.0|22.0|22.0	4.231323|4.231323|4.231323	0.79688|0.79688|0.79688	.|.|.	.|.|.	ENSG00000145730|ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000348126;ENST00000274392;ENST00000455264|ENST00000304400|ENST00000379799	.|T|.	.|0.44881|.	.|0.91|.	5.8|5.8|5.8	5.8|5.8|5.8	0.92144|0.92144|0.92144	.|.|.	.|0.891238|.	.|0.10068|.	.|N|.	.|0.720076|.	.|T|T	.|0.76644|0.76644	.|0.4016|0.4016	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B|.	.|0.11235|.	.|0.004|.	.|B|.	.|0.12156|.	.|0.007|.	.|T|T	.|0.74206|0.74206	.|-0.3740|-0.3740	.|9|4	.|0.66056|.	.|D|.	.|0.02|.	.|.|.	20.0415|20.0415|20.0415	0.97592|0.97592|0.97592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|898|.	.|P19021-5|.	.|.|.	.|Y|I	-1|898|602	.|ENSP00000306100:D898Y|.	.|ENSP00000306100:D898Y|.	.|D|R	+|+|+	.|1|2	.|0|0	PAM|PAM|PAM	102391787|102391787|102391787	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.925000|0.925000|0.925000	0.55904|0.55904|0.55904	6.712000|6.712000|6.712000	0.74681|0.74681|0.74681	2.745000|2.745000|2.745000	0.94114|0.94114|0.94114	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	.|GAT|AGA	PAM	-	-	ENSG00000145730		0.388	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	-	0	30	0	G	NM_000919	Intron	102363888	1	tier1	-	no_errors	ENST00000438793	ensembl	human	known	74_37	splice_site	7.41	50	4	SNP	1.000	T	T	102363888	G	T	102363888	5	4	174	1	0	0	0	0	0	0	1	0	11451	956	33	3	2786	3	PAM	5	102363888	Splice_Site	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09		102363888	78551372	54	43578											
PCDHGA6	56109	genome.wustl.edu	37	chr5	140755585	140755585	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagagcctagtggtggcCgtccaggaccacggccagcc	9	4	14	14	2	0	1	0	0	0	1	1	2	1	2	6	4	3	1	6	4	2	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr5:140755585C>T	ENST00000517434.1	+	1	1935	c.1935C>T	c.(1933-1935)gcC>gcT	p.A645A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	645	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)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTGGTGGCCGTCCAGGACC	0.706																																																	0													33	43	40					5																	140755585		2200	4294	6494	SO:0001819	synonymous_variant	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1935C>T	5.37:g.140755585C>T			A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A645	ENST00000517434.1	37	c.1935	CCDS54926.1	5																																																																																			PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253731		0.706	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	-	0	96	0	C	NM_018919		140755585	1	tier1	-	no_errors	ENST00000517434	ensembl	human	known	74_37	silent	42.86	48	36	SNP	0.012	T	T	140755585	C	T	140755585	2	4	174	1	0	0	0	0	0	0	0	1	11597	639	23	1		1	PCDHGA6	5	140755585	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	38391697	140755585	40159675	55	43579											
PCDHGA6	56109	genome.wustl.edu	37	chr5	140755848	140755848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcgggaggtggcttagCgagcatgcccggctcgcact	5	8	16	12	4	0	0	0	0	0	0	2	2	0	1	1	5	3	5	1	5	1	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr5:140755848C>T	ENST00000517434.1	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	733					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCTTAGCGAGCATGCCC	0.622																																																	0													74	80	78					5																	140755848		2203	4300	6503	SO:0001583	missense	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2198C>T	5.37:g.140755848C>T	ENSP00000429601:p.Ala733Val		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A733V	ENST00000517434.1	37	c.2198	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	6.378	0.437859	0.12104	.	.	ENSG00000253731	ENST00000517434	T	0.44482	0.92	5.15	0.115	0.14643	.	0.925107	0.08507	U	0.935524	T	0.25791	0.0628	L	0.37630	1.12	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.09377	0.003;0.004	T	0.29119	-1.0022	10	0.06891	T	0.86	.	5.305	0.15799	0.0:0.4676:0.2001:0.3324	.	733;733	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	V	733	ENSP00000429601:A733V	ENSP00000429601:A733V	A	+	2	0	PCDHGA6	140736032	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.582000	0.05814	0.150000	0.19136	-0.136000	0.14681	GCG	PCDHGA6	-	NULL	ENSG00000253731		0.622	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	-	0	102	0	C	NM_018919		140755848	1	tier1	-	no_errors	ENST00000517434	ensembl	human	known	74_37	missense	38.03	44	27	SNP	0.000	T	T	140755848	C	T	140755848	3	4	174	1	0	0	0	0	1	0	0	0	11597	768	27	1	2200	1	PCDHGA6	5	140755848	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	263	140755848	40159412	56	43580											
PCDH1	5097	genome.wustl.edu	37	chr5	141243774	141243774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagggtgcgttgtcattctCgtccagcacattgatggtga	8	13	12	8	2	2	2	1	2	1	0	4	2	3	2	1	2	2	2	1	2	1	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr5:141243774C>T	ENST00000394536.3	-	3	2261	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	PCDH1_ENST00000456271.1_Missense_Mutation_p.E696K|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Missense_Mutation_p.E708K|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.E686K	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	708	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		TTGTCATTCTCGTCCAGCACA	0.567																																					Ovarian(132;1609 1739 4190 14731 45037)												0													145	129	134					5																	141243774		2203	4300	6503	SO:0001583	missense	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2122G>A	5.37:g.141243774C>T	ENSP00000378043:p.Glu708Lys		Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E708K	ENST00000394536.3	37	c.2122	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	c	14.82	2.650506	0.47362	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.60920	0.15;4.67;4.67;4.67;4.67	5.25	5.25	0.73442	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.50627	D	0.000112	T	0.66934	0.2840	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.97;0.986	T	0.68284	-0.5449	10	0.52906	T	0.07	.	16.3548	0.83232	0.0:1.0:0.0:0.0	.	708;708	Q08174;Q08174-2	PCDH1_HUMAN;.	K	708;708;696;719;686	ENSP00000287008:E708K;ENSP00000378043:E708K;ENSP00000403497:E696K;ENSP00000350122:E719K;ENSP00000438825:E686K	ENSP00000287008:E708K	E	-	1	0	PCDH1	141223958	1.000000	0.71417	0.998000	0.56505	0.491000	0.33493	6.056000	0.71111	2.463000	0.83235	0.450000	0.29827	GAG	PCDH1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000156453		0.567	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	-	0	19	0	C	NM_032420		141243774	-1	tier1	-	no_errors	ENST00000287008	ensembl	human	known	74_37	missense	47.62	11	10	SNP	1.000	T	T	141243774	C	T	141243774	3	4	174	1	0	0	0	0	1	0	0	0	11545	893	31	1	1687	1	PCDH1	5	141243774	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	487926	141243774	39671486	57	43581											
TNIP1	10318	genome.wustl.edu	37	chr5	150410288	150410288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtctcactgaggcccctCacggtcattttttggagact	6	13	10	12	1	3	2	3	1	1	1	4	3	3	2	2	4	0	0	2	4	0	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr5:150410288C>G	ENST00000389378.2	-	18	2485	c.1897G>C	c.(1897-1899)Gag>Cag	p.E633Q	TNIP1_ENST00000523200.1_Missense_Mutation_p.E569Q|TNIP1_ENST00000524280.1_Silent_p.V536V|TNIP1_ENST00000521591.1_Missense_Mutation_p.E633Q|TNIP1_ENST00000315050.7_Missense_Mutation_p.E633Q|TNIP1_ENST00000521423.1_5'Flank|TNIP1_ENST00000520931.1_Missense_Mutation_p.E580Q|TNIP1_ENST00000522226.1_Missense_Mutation_p.E633Q|TNIP1_ENST00000518977.1_Intron|TNIP1_ENST00000523338.1_Intron	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	633	Pro-rich.				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)			TGAGGCCCCTCACGGTCATTT	0.448																																																	0													81	81	81					5																	150410288		2203	4300	6503	SO:0001583	missense	0			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.1897G>C	5.37:g.150410288C>G	ENSP00000374029:p.Glu633Gln		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E633Q	ENST00000389378.2	37	c.1897	CCDS34280.1	5	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563507	0.27915	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000523200	T;T;T;T;T;T	0.12361	2.72;2.72;2.72;2.72;2.72;2.69	5.44	2.7	0.31948	.	0.637227	0.14743	N	0.301049	T	0.11580	0.0282	L	0.44542	1.39	0.09310	N	1	B;B	0.18166	0.026;0.015	B;B	0.19391	0.025;0.025	T	0.24693	-1.0153	10	0.35671	T	0.21	-2.4862	6.874	0.24137	0.0:0.7207:0.0:0.2793	.	569;633	E7ET96;Q15025	.;TNIP1_HUMAN	Q	580;633;633;526;595;633;633;569	ENSP00000429891:E580Q;ENSP00000374029:E633Q;ENSP00000317891:E633Q;ENSP00000428187:E633Q;ENSP00000430760:E633Q;ENSP00000431105:E569Q	ENSP00000317891:E633Q	E	-	1	0	TNIP1	150390481	0.002000	0.14202	0.233000	0.24025	0.848000	0.48234	0.470000	0.22084	0.669000	0.31146	0.448000	0.29417	GAG	TNIP1	-	NULL	ENSG00000145901		0.448	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP1	HGNC	protein_coding	OTTHUMT00000374914.1		0	43	0	C	NM_006058		150410288	-1			no_errors	ENST00000315050	ensembl	human	known	74_37	missense	11.90	37	5	SNP	0.047	G	G	150410288	C	G	150410288	3	3	174	1	0	0	0	0	1	0	0	0	16361	835	29	5	17	5	TNIP1	5	150410288	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	9166514	150410288	30504972	58	43582											
FAT2	2196	genome.wustl.edu	37	chr5	150901029	150901029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccactgaatgctccatctCcttggctgagtgagtgatga	8	11	10	12	0	1	5	0	5	1	0	3	5	2	5	4	1	1	2	4	1	1	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr5:150901029C>T	ENST00000261800.5	-	18	11137	c.11125G>A	c.(11125-11127)Gag>Aag	p.E3709K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3709					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)			TGCTCCATCTCCTTGGCTGAG	0.567																																																	0													78	77	77					5																	150901029		2203	4300	6503	SO:0001583	missense	0			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.11125G>A	5.37:g.150901029C>T	ENSP00000261800:p.Glu3709Lys		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E3709K	ENST00000261800.5	37	c.11125	CCDS4317.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.285257|4.285257	0.80803|0.80803	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.71698|.	-0.59|.	5.76|5.76	4.88|4.88	0.63580|0.63580	.|.	0.095199|.	0.45606|.	D|.	0.000345|.	T|T	0.67924|0.67924	0.2945|0.2945	L|L	0.50333|0.50333	1.59|1.59	0.49582|0.49582	D|D	0.999802|0.999802	P;D|.	0.57257|.	0.919;0.979|.	B;P|.	0.47528|.	0.395;0.549|.	T|T	0.65857|0.65857	-0.6066|-0.6066	10|5	0.24483|.	T|.	0.36|.	.|.	16.2047|16.2047	0.82120|0.82120	0.1342:0.8658:0.0:0.0|0.1342:0.8658:0.0:0.0	.|.	3709;900|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	K|E	3709|567	ENSP00000261800:E3709K|.	ENSP00000261800:E3709K|.	E|G	-|-	1|2	0|0	FAT2|FAT2	150881222|150881222	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.588000|4.588000	0.60999|0.60999	1.419000|1.419000	0.47118|0.47118	0.561000|0.561000	0.74099|0.74099	GAG|GGA	FAT2	-	NULL	ENSG00000086570		0.567	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	44	0	C	NM_001447		150901029	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	37.21	27	16	SNP	1.000	T	T	150901029	C	T	150901029	3	4	174	1	0	0	0	0	1	0	0	0	5712	864	30	3	1948	3	FAT2	5	150901029	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	490741	150901029	30014231	59	43583											
FAT2	2196	genome.wustl.edu	37	chr5	150929062	150929062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgataggtatttcctggtctCggacctatgggcccaaaggg	8	11	13	9	1	1	1	0	1	1	0	3	2	2	2	3	5	0	1	3	5	4	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr5:150929062C>T	ENST00000261800.5	-	8	4595	c.4583G>A	c.(4582-4584)cGa>cAa	p.R1528Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1528	Cadherin 13. {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)			TTCCTGGTCTCGGACCTATGG	0.483																																																	0													48	47	48					5																	150929062		2203	4300	6503	SO:0001583	missense	0			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.4583G>A	5.37:g.150929062C>T	ENSP00000261800:p.Arg1528Gln		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R1528Q	ENST00000261800.5	37	c.4583	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.153427	0.94645	.	.	ENSG00000086570	ENST00000261800	T	0.52754	0.65	4.81	4.81	0.61882	Cadherin (4);Cadherin-like (1);	0.000000	0.49305	D	0.000141	T	0.64843	0.2635	L	0.58669	1.825	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.60332	-0.7284	10	0.25106	T	0.35	.	18.2322	0.89937	0.0:1.0:0.0:0.0	.	1528	Q9NYQ8	FAT2_HUMAN	Q	1528	ENSP00000261800:R1528Q	ENSP00000261800:R1528Q	R	-	2	0	FAT2	150909255	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	7.335000	0.79234	2.360000	0.80028	0.561000	0.74099	CGA	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	28	0	C	NM_001447		150929062	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	44.12	19	15	SNP	1.000	T	T	150929062	C	T	150929062	3	4	174	1	0	0	0	0	1	0	0	0	5712	884	31	1	8530	1	FAT2	5	150929062	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	28033	150929062	29986198	60	43584											
FAT2	2196	genome.wustl.edu	37	chr5	150948297	150948297	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	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	ccggtacctcactgcccactGtggctccgcgaggtagatgc	6	8	12	15	3	1	1	1	0	0	1	2	2	2	1	4	3	3	3	4	3	2	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr5:150948297G>A	ENST00000261800.5	-	1	208	c.196C>T	c.(196-198)Cag>Tag	p.Q66*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	66	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGCCCACTGTGGCTCCGCG	0.483																																																	0													172	173	173					5																	150948297		2203	4300	6503	SO:0001587	stop_gained	0			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.196C>T	5.37:g.150948297G>A	ENSP00000261800:p.Gln66*		O75091|Q9NSR7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Q66*	ENST00000261800.5	37	c.196	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776837	0.90195	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.35	4.45	0.53987	.	0.433550	0.22194	N	0.063326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	8.7869	0.34825	0.0819:0.3751:0.543:0.0	.	.	.	.	X	66	.	ENSP00000261800:Q66X	Q	-	1	0	FAT2	150928490	0.649000	0.27322	0.779000	0.31741	0.947000	0.59692	2.378000	0.44309	1.195000	0.43115	0.555000	0.69702	CAG	FAT2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	47	0	G	NM_001447		150948297	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	nonsense	42.86	24	18	SNP	0.024	A	A	150948297	G	A	150948297	4	1	174	1	0	0	0	0	0	1	0	0	5712	1386	48	3	12945	3	FAT2	5	150948297	Nonsense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	19235	150948297	29966963	61	43585											
FAM114A2	10827	genome.wustl.edu	37	chr5	153381887	153381887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccaatgcagctgttttgtGgaatagttcaattgagcagg	12	12	11	6	0	1	1	1	1	0	0	1	2	1	2	1	2	4	5	1	2	5	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr5:153381887G>A	ENST00000351797.4	-	11	1256	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	FAM114A2_ENST00000522858.1_Missense_Mutation_p.H394Y|FAM114A2_ENST00000520313.1_Missense_Mutation_p.H324Y|FAM114A2_ENST00000520667.1_Missense_Mutation_p.H394Y	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	394							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						GCTGTTTTGTGGAATAGTTCA	0.443																																																	0													141	134	137					5																	153381887		2203	4300	6503	SO:0001583	missense	0			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 3"	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1180C>T	5.37:g.153381887G>A	ENSP00000341597:p.His394Tyr		B2R8D8|Q9H7E0	Missense_Mutation	SNP	pfam_DUF719	p.H394Y	ENST00000351797.4	37	c.1180	CCDS4323.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371226	0.82573	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.28255	1.84;1.84;1.84;1.62	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	M	0.85777	2.775	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.64428	-0.6410	10	0.51188	T	0.08	-7.4866	18.6352	0.91376	0.0:0.0:1.0:0.0	.	324;394	E7ESJ7;Q9NRY5	.;F1142_HUMAN	Y	394;394;394;324	ENSP00000341597:H394Y;ENSP00000430489:H394Y;ENSP00000430384:H394Y;ENSP00000429088:H324Y	ENSP00000341597:H394Y	H	-	1	0	FAM114A2	153362080	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.475000	0.81041	2.685000	0.91497	0.655000	0.94253	CAC	FAM114A2	-	NULL	ENSG00000055147		0.443	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A2	HGNC	protein_coding	OTTHUMT00000252455.1	-	0	54	0	G	NM_018691		153381887	-1	tier1	-	no_errors	ENST00000351797	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	A	A	153381887	G	A	153381887	3	1	174	1	0	0	0	0	1	0	0	0	5423	1348	47	3	353	3	FAM114A2	5	153381887	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	2433590	153381887	27533373	62	43586											
DSP	1832	genome.wustl.edu	37	chr6	7580047	7580048	+	Frame_Shift_Ins	INS	-	-	AAGT																															agatgagtaatttaaggaacINSaagtatgaaacagagattaa																										TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr6:7580047_7580048insAAGT	ENST00000379802.3	+	23	3965_3966	c.3624_3625insAAGT	c.(3625-3627)aagfs	p.-1209fs	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						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)		ATTTAAGGAACAAGTATGAAAC	0.391																																																	0																																										SO:0001589	frameshift_variant	0			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.3625_3628dupAAGT	6.37:g.7580048_7580051dupAAGT	ENSP00000369129:p.Lys1209fs		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Ins	INS	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Y1209fs	ENST00000379802.3	37	c.3624_3625	CCDS4501.1	6																																																																																			DSP	-	NULL	ENSG00000096696		0.391	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2		0	43	0	-	NM_004415		7580048	1	tier1		no_errors	ENST00000379802	ensembl	human	known	74_37	frame_shift_ins	45.45	12	10	INS	1.000:1.000	AAGT	AAGT	7580048	-	AAGT	7580047	7	5	174	1	0	1	1	0	0	0	0	0	4795	477	17	0	3714	0	DSP	6	7580047	Frame_Shift_Ins	INS	-	TCGA-VR-AA7B-01A-31D-A403-09		7580047	163535020	63	43587											
GPR116	221395	genome.wustl.edu	37	chr6	46826698	46826698	+	Frame_Shift_Del	DEL	T	T	-																															cacagatacaggtgacattgTccccatcaccttcttctaca																										TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr6:46826698delT	ENST00000283296.7	-	17	3230	c.2942delA	c.(2941-2943)gacfs	p.D981fs	GPR116_ENST00000545669.1_Frame_Shift_Del_p.D410fs|GPR116_ENST00000265417.7_Frame_Shift_Del_p.D981fs|GPR116_ENST00000456426.2_Frame_Shift_Del_p.D839fs|GPR116_ENST00000362015.4_Frame_Shift_Del_p.D981fs	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	981	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGTGACATTGTCCCCATCACC	0.517																																					NSCLC(59;410 1274 8751 36715 50546)												0													95	80	85					6																	46826698		2203	4298	6501	SO:0001589	frameshift_variant	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2942delA	6.37:g.46826698delT	ENSP00000283296:p.Asp981fs		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.D981fs	ENST00000283296.7	37	c.2942	CCDS4919.1	6																																																																																			GPR116	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000069122		0.517	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2		0	56	0	T	NM_015234		46826698	-1	tier1		no_errors	ENST00000265417	ensembl	human	known	74_37	frame_shift_del	45.45	18	15	DEL	0.193	-	-	46826698	T	-	46826698	7	5	174	1	0	1	0	1	0	0	0	0	6659	1667	58	0	1118	0	GPR116	6	46826698	Frame_Shift_Del	DEL	T	TCGA-VR-AA7B-01A-31D-A403-09	39246651	46826698	124288369	64	43588											
COL19A1	1310	genome.wustl.edu	37	chr6	70850865	70850865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggagagccttttacaaaagGagaaaaaggagatagagtaa	19	6	13	3	0	0	4	0	0	0	4	0	7	0	4	1	3	2	1	1	3	7	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr6:70850865G>A	ENST00000322773.4	+	20	1568	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E	COL19A1_ENST00000393344.1_Missense_Mutation_p.G111E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	489	Collagen-like 4.|Triple-helical region 3 (COL3).				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						TTTACAAAAGGAGAAAAAGGA	0.368																																																	0													166	179	175					6																	70850865		2203	4300	6503	SO:0001583	missense	0				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.1466G>A	6.37:g.70850865G>A	ENSP00000316030:p.Gly489Glu		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G489E	ENST00000322773.4	37	c.1466	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546921	0.45383	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99353	-5.77;-5.77	4.73	4.73	0.59995	.	0.066589	0.56097	D	0.000022	D	0.99638	0.9867	H	0.96015	3.755	0.42455	D	0.992761	D	0.89917	1.0	D	0.97110	1.0	D	0.97746	1.0211	10	0.87932	D	0	.	16.358	0.83243	0.0:0.0:1.0:0.0	.	489	Q14993	COJA1_HUMAN	E	489;111	ENSP00000316030:G489E;ENSP00000377013:G111E	ENSP00000316030:G489E	G	+	2	0	COL19A1	70907586	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.709000	0.54853	2.543000	0.85770	0.650000	0.86243	GGA	COL19A1	-	pfam_Collagen	ENSG00000082293		0.368	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	-	0	143	0	G			70850865	1	tier1	-	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	22.64	82	24	SNP	1.000	A	A	70850865	G	A	70850865	3	1	174	1	0	0	0	0	1	0	0	0	3683	1174	41	3	1540	3	COL19A1	6	70850865	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	24024167	70850865	100264202	65	43589											
ZNF292	23036	genome.wustl.edu	37	chr6	87965877	87965877	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgctgcctcctgaagccCaacttaattcatctggagat	11	11	8	11	0	2	2	1	1	1	1	3	3	3	2	3	1	4	1	3	1	4	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr6:87965877C>A	ENST00000369577.3	+	8	2573	c.2530C>A	c.(2530-2532)Caa>Aaa	p.Q844K	ZNF292_ENST00000339907.4_Missense_Mutation_p.Q839K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	844						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)		TCCTGAAGCCCAACTTAATTC	0.418																																																	0													49	47	48					6																	87965877		1956	4154	6110	SO:0001583	missense	0			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.2530C>A	6.37:g.87965877C>A	ENSP00000358590:p.Gln844Lys		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q844K	ENST00000369577.3	37	c.2530	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	C	4.846	0.157230	0.09236	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06768	3.26;3.27	5.83	5.83	0.93111	.	0.428449	0.28001	N	0.016989	T	0.01489	0.0048	N	0.08118	0	0.32429	N	0.548239	B	0.17038	0.02	B	0.16722	0.016	T	0.35201	-0.9798	10	0.06365	T	0.9	.	14.9023	0.70689	0.0:0.7388:0.2612:0.0	.	844	O60281	ZN292_HUMAN	K	844;839	ENSP00000358590:Q844K;ENSP00000342847:Q839K	ENSP00000342847:Q839K	Q	+	1	0	ZNF292	88022596	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	2.288000	0.43514	2.756000	0.94617	0.655000	0.94253	CAA	ZNF292	-	NULL	ENSG00000188994		0.418	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	-	0	42	0	C	NM_015021		87965877	1	tier1	-	no_errors	ENST00000369577	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	A	A	87965877	C	A	87965877	3	1	174	1	0	0	0	0	1	0	0	0	17874	595	21	3	2560	3	ZNF292	6	87965877	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	17115012	87965877	83149190	66	43590											
MANEA	79694	genome.wustl.edu	37	chr6	96053781	96053781	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcaattctccttatgatGgactgtttattgcccttctg	6	18	7	10	1	2	1	0	1	2	0	4	2	2	2	2	1	1	2	2	1	3	7			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr6:96053781G>T	ENST00000358812.4	+	5	1023	c.889G>T	c.(889-891)Gga>Tga	p.G297*	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	297	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)		TCCTTATGATGGACTGTTTAT	0.363																																																	0													121	116	118					6																	96053781		2203	4300	6503	SO:0001587	stop_gained	0			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.889G>T	6.37:g.96053781G>T	ENSP00000351669:p.Gly297*		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Nonsense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.G297*	ENST00000358812.4	37	c.889	CCDS5032.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.457235	0.97581	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.16	6.16	0.99307	.	0.151346	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.5318	19.848	0.96722	0.0:0.0:1.0:0.0	.	.	.	.	X	297	.	ENSP00000351669:G297X	G	+	1	0	MANEA	96160502	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.256000	0.72473	2.937000	0.99478	0.650000	0.86243	GGA	MANEA	-	NULL	ENSG00000172469		0.363	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	HGNC	protein_coding	OTTHUMT00000043644.1	-	0	52	0	G	NM_024641		96053781	1	tier1	-	no_errors	ENST00000358812	ensembl	human	known	74_37	nonsense	18.18	45	10	SNP	1.000	T	T	96053781	G	T	96053781	4	4	174	1	0	0	0	0	0	1	0	0	9259	1349	47	3	903	3	MANEA	6	96053781	Nonsense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	8087904	96053781	75061286	67	43591											
MANEA	79694	genome.wustl.edu	37	chr6	96053793	96053793	+	Frame_Shift_Del	DEL	G	G	-																															cttatgatggactgtttattGcccttctggtagaagaaaaa																										TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr6:96053793delG	ENST00000358812.4	+	5	1035	c.901delG	c.(901-903)gccfs	p.A301fs	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	301	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)		ACTGTTTATTGCCCTTCTGGT	0.378																																																	0													113	109	110					6																	96053793		2203	4300	6503	SO:0001589	frameshift_variant	0			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.901delG	6.37:g.96053793delG	ENSP00000351669:p.Ala301fs		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Frame_Shift_Del	DEL	superfamily_Glycoside_hydrolase_SF	p.A301fs	ENST00000358812.4	37	c.901	CCDS5032.1	6																																																																																			MANEA	-	NULL	ENSG00000172469		0.378	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	HGNC	protein_coding	OTTHUMT00000043644.1		0	50	0	G	NM_024641		96053793	1	tier1		no_errors	ENST00000358812	ensembl	human	known	74_37	frame_shift_del	17.65	42	9	DEL	1.000	-	-	96053793	G	-	96053793	7	5	174	1	0	1	0	1	0	0	0	0	9259	1319	46	0	915	0	MANEA	6	96053793	Frame_Shift_Del	DEL	G	TCGA-VR-AA7B-01A-31D-A403-09	12	96053793	75061274	68	43592	152	2									
MANEA	79694	genome.wustl.edu	37	chr6	96053797	96053797	+	Missense_Mutation	SNP	T	T	C																															tgatggactgtttattgcccTtctggtagaagaaaaacata																										TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr6:96053797T>C	ENST00000358812.4	+	5	1039	c.905T>C	c.(904-906)cTt>cCt	p.L302P	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	302	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)		TTTATTGCCCTTCTGGTAGAA	0.378																																																	0													108	104	105					6																	96053797		2203	4300	6503	SO:0001583	missense	0			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.905T>C	6.37:g.96053797T>C	ENSP00000351669:p.Leu302Pro		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.L302P	ENST00000358812.4	37	c.905	CCDS5032.1	6	.	.	.	.	.	.	.	.	.	.	T	22.3	4.271991	0.80469	.	.	ENSG00000172469	ENST00000358812	D	0.92647	-3.08	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.95648	0.8585	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94605	0.7799	10	0.25106	T	0.35	-26.4815	15.7535	0.78005	0.0:0.0:0.0:1.0	.	302	Q5SRI9	MANEA_HUMAN	P	302	ENSP00000351669:L302P	ENSP00000351669:L302P	L	+	2	0	MANEA	96160518	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.603000	0.82811	2.313000	0.78055	0.455000	0.32223	CTT	MANEA	-	NULL	ENSG00000172469		0.378	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	HGNC	protein_coding	OTTHUMT00000043644.1	-	0	50	0	T	NM_024641		96053797	1	tier1	-	no_errors	ENST00000358812	ensembl	human	known	74_37	missense	18.00	41	9	SNP	1.000	C	C	96053797	T	C	96053797	3	2	174	1	0	0	0	0	1	0	0	0	9259	1609	56	4	919	4	MANEA	6	96053797	Missense_Mutation	SNP	T	TCGA-VR-AA7B-01A-31D-A403-09	4	96053797	75061270	69	43593	152	2									
ATG5	9474	genome.wustl.edu	37	chr6	106756264	106756264	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtggtgtgccttcatattCaaaccatatctcactaatgt	11	14	6	10	0	3	0	3	0	1	0	4	0	3	0	2	1	2	0	2	1	4	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr6:106756264C>G	ENST00000369076.3	-	3	534	c.211G>C	c.(211-213)Gaa>Caa	p.E71Q	ATG5_ENST00000343245.3_Missense_Mutation_p.E71Q|ATG5_ENST00000360666.4_Intron|ATG5_ENST00000369070.1_Intron	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	71					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CCTTCATATTCAAACCATATC	0.343																																																	0													164	147	152					6																	106756264		2203	4300	6503	SO:0001583	missense	0			Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"APG5 (autophagy 5, S. cerevisiae)-like", "APG5 autophagy 5-like (S. cerevisiae)", "ATG5 autophagy related 5 homolog (S. cerevisiae)"	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.211G>C	6.37:g.106756264C>G	ENSP00000358072:p.Glu71Gln		O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	pfam_Atg5	p.E71Q	ENST00000369076.3	37	c.211	CCDS5055.1	6	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358960	0.82353	.	.	ENSG00000057663	ENST00000369076;ENST00000343245	.	.	.	5.98	5.98	0.97165	.	0.045026	0.85682	D	0.000000	T	0.63768	0.2539	M	0.74467	2.265	0.80722	D	1	P;P	0.38148	0.62;0.62	B;B	0.43155	0.41;0.41	T	0.64740	-0.6336	9	0.46703	T	0.11	0.5513	20.4581	0.99154	0.0:1.0:0.0:0.0	.	71;71	A9UGY9;Q9H1Y0	.;ATG5_HUMAN	Q	71	.	ENSP00000343313:E71Q	E	-	1	0	ATG5	106862957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.835000	0.97688	0.650000	0.86243	GAA	ATG5	-	NULL	ENSG00000057663		0.343	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG5	HGNC	protein_coding	OTTHUMT00000043476.1	-	0	75	0	C	NM_004849		106756264	-1	tier1	-	no_errors	ENST00000343245	ensembl	human	known	74_37	missense	14.08	61	10	SNP	1.000	G	G	106756264	C	G	106756264	3	3	174	1	0	0	0	0	1	0	0	0	1101	835	29	5	640	5	ATG5	6	106756264	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	10702467	106756264	64358803	70	43594											
LAMA4	3910	genome.wustl.edu	37	chr6	112466087	112466087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtcgcttctgctcaaccGtacgaagctgatccaggagc	9	8	11	13	3	2	1	1	1	1	0	4	3	3	2	2	2	5	4	2	2	3	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr6:112466087G>A	ENST00000230538.7	-	19	2799	c.2402C>T	c.(2401-2403)aCg>aTg	p.T801M	LAMA4_ENST00000522006.1_Missense_Mutation_p.T794M|LAMA4_ENST00000389463.4_Missense_Mutation_p.T794M|LAMA4_ENST00000424408.2_Missense_Mutation_p.T794M	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	801	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTGCTCAACCGTACGAAGCTG	0.433																																																	0													72	67	69					6																	112466087		2203	4300	6503	SO:0001583	missense	0				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.2402C>T	6.37:g.112466087G>A	ENSP00000230538:p.Thr801Met		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.T801M	ENST00000230538.7	37	c.2402	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275360	0.23307	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.35	3.59	0.41128	Laminin II (1);	0.378797	0.32918	N	0.005491	T	0.25531	0.0621	L	0.47716	1.5	0.21604	N	0.999627	D;D	0.64830	0.994;0.992	P;P	0.53224	0.721;0.599	T	0.06972	-1.0797	10	0.41790	T	0.15	.	5.0005	0.14262	0.1352:0.1172:0.6265:0.121	.	801;794	Q16363;Q16363-2	LAMA4_HUMAN;.	M	801;794;794;794	ENSP00000230538:T801M;ENSP00000429488:T794M;ENSP00000374114:T794M;ENSP00000416470:T794M	ENSP00000230538:T801M	T	-	2	0	LAMA4	112572780	0.004000	0.15560	0.004000	0.12327	0.120000	0.20174	0.668000	0.25127	0.844000	0.35094	-0.749000	0.03505	ACG	LAMA4	-	pfam_Laminin_II,superfamily_Focal_adhesion_kin_target_dom	ENSG00000112769		0.433	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	-	0	46	0	G	NM_001105206		112466087	-1	tier1	-	no_errors	ENST00000230538	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.024	A	A	112466087	G	A	112466087	3	1	174	1	0	0	0	0	1	0	0	0	8636	1145	40	1	3153	1	LAMA4	6	112466087	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	5709823	112466087	58648980	71	43595											
DBF4	10926	genome.wustl.edu	37	chr7	87537005	87537005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctttttccagcaaaggatCtcaaggaaaaggaccttcat	13	11	8	9	0	2	0	2	0	1	0	4	3	3	3	2	3	2	2	2	3	4	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr7:87537005C>G	ENST00000265728.1	+	12	2056	c.1552C>G	c.(1552-1554)Ctc>Gtc	p.L518V		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	518					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)				AGCAAAGGATCTCAAGGAAAA	0.378																																																	0													76	75	75					7																	87537005		2203	4300	6503	SO:0001583	missense	0			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.1552C>G	7.37:g.87537005C>G	ENSP00000265728:p.Leu518Val		A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.L518V	ENST00000265728.1	37	c.1552	CCDS5611.1	7	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903799	0.52333	.	.	ENSG00000006634	ENST00000265728	T	0.40225	1.04	5.16	1.17	0.20885	.	0.540328	0.16131	N	0.228204	T	0.41511	0.1162	L	0.34521	1.04	0.25112	N	0.990702	D;D	0.71674	0.996;0.998	P;P	0.62813	0.907;0.899	T	0.16808	-1.0390	10	0.44086	T	0.13	0.9461	2.7514	0.05282	0.3668:0.368:0.0:0.2653	.	294;518	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	V	518	ENSP00000265728:L518V	ENSP00000265728:L518V	L	+	1	0	DBF4	87374941	0.731000	0.28111	0.713000	0.30519	0.984000	0.73092	-0.168000	0.09925	0.253000	0.21552	0.655000	0.94253	CTC	DBF4	-	NULL	ENSG00000006634		0.378	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBF4	HGNC	protein_coding	OTTHUMT00000253678.1	-	0	57	0	C	NM_006716		87537005	1	tier1	-	no_errors	ENST00000265728	ensembl	human	known	74_37	missense	36.11	46	26	SNP	0.724	G	G	87537005	C	G	87537005	3	3	174	1	0	0	0	0	1	0	0	0	4257	913	32	5	1598	5	DBF4	7	87537005	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09		87537005	71601658	72	43596											
ZNF804B	219578	genome.wustl.edu	37	chr7	88847592	88847592	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaatcatattaattcttatGaccatgctcataagcaggta	15	13	5	8	0	3	1	2	1	1	0	3	1	3	1	1	1	2	3	1	1	6	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr7:88847592G>C	ENST00000333190.4	+	2	841	c.232G>C	c.(232-234)Gac>Cac	p.D78H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	78							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAATTCTTATGACCATGCTCA	0.368										HNSCC(36;0.09)																																							0													89	86	87					7																	88847592		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.232G>C	7.37:g.88847592G>C	ENSP00000329638:p.Asp78His		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.D78H	ENST00000333190.4	37	c.232	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455737	0.84209	.	.	ENSG00000182348	ENST00000333190	T	0.16457	2.34	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000003	T	0.48352	0.1495	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51772	-0.8663	10	0.87932	D	0	-14.1974	19.1711	0.93578	0.0:0.0:1.0:0.0	.	78	A4D1E1	Z804B_HUMAN	H	78	ENSP00000329638:D78H	ENSP00000329638:D78H	D	+	1	0	ZNF804B	88685528	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	9.657000	0.98554	2.774000	0.95407	0.484000	0.47621	GAC	ZNF804B	-	pfam_Znf_C2H2_jaz	ENSG00000182348		0.368	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	55	0	G	NM_181646		88847592	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	20.37	43	11	SNP	1.000	C	C	88847592	G	C	88847592	3	2	174	1	0	0	0	0	1	0	0	0	18219	1290	45	5	238	5	ZNF804B	7	88847592	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	1310587	88847592	70291071	73	43597											
PON3	5446	genome.wustl.edu	37	chr7	95001650	95001650	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgcctggatattttaatcCcttttaaaaataaagaacaa	17	13	4	7	0	0	1	0	0	0	1	1	2	1	2	2	1	2	0	2	1	9	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr7:95001650C>A	ENST00000265627.5	-	4	212	c.202G>T	c.(202-204)Gga>Tga	p.G68*	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Splice_Site_p.G68*|PON3_ENST00000451904.1_Splice_Site_p.G68*	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	68				G -> E (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)	TATTTTAATCCCTTTTAAAAA	0.333																																																	0													79	75	77					7																	95001650		2203	4300	6503	SO:0001630	splice_region_variant	0			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.202-1G>T	7.37:g.95001650C>A			A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Nonsense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2	p.G68*	ENST00000265627.5	37	c.202	CCDS5639.1	7	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309786	0.81247	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.2042	18.0823	0.89444	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000265627:G68X	G	-	1	0	PON3	94839586	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.578000	0.74032	2.694000	0.91930	0.555000	0.69702	GGA	PON3	-	NULL	ENSG00000105852		0.333	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON3	HGNC	protein_coding	OTTHUMT00000333007.1	-	0	62	0	C	NM_000940	Nonsense_Mutation	95001650	-1	tier1	-	no_errors	ENST00000265627	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	1.000	A	A	95001650	C	A	95001650	5	1	174	1	0	0	0	0	0	0	1	0	12289	637	22	3	886	3	PON3	7	95001650	Splice_Site	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	6154058	95001650	64137013	74	43598											
POT1	25913	genome.wustl.edu	37	chr7	124481087	124481087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accattatttttcacaaaatGaactgctacttttcgtcctt	11	17	3	10	1	1	1	1	1	0	0	3	1	2	1	2	0	3	1	2	0	5	7			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr7:124481087G>C	ENST00000357628.3	-	14	1907	c.1309C>G	c.(1309-1311)Cat>Gat	p.H437D	POT1_ENST00000393329.1_Missense_Mutation_p.H306D	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	437					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						TTCACAAAATGAACTGCTACT	0.318																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													135	132	133					7																	124481087		2203	4300	6503	SO:0001583	missense	0			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.1309C>G	7.37:g.124481087G>C	ENSP00000350249:p.His437Asp		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.H437D	ENST00000357628.3	37	c.1309	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272979	0.80580	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	T;T	0.54479	0.57;0.58	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72961	0.3526	M	0.78049	2.395	0.58432	D	0.999991	D	0.76494	0.999	D	0.65684	0.937	T	0.75952	-0.3136	10	0.72032	D	0.01	-28.7079	18.1169	0.89559	0.0:0.0:1.0:0.0	.	437	Q9NUX5	POTE1_HUMAN	D	437;306;437;437;436	ENSP00000350249:H437D;ENSP00000377002:H306D	ENSP00000265391:H436D	H	-	1	0	POT1	124268323	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	5.023000	0.64084	2.688000	0.91661	0.655000	0.94253	CAT	POT1	-	NULL	ENSG00000128513		0.318	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	-	0	44	0	G			124481087	-1	tier1	-	no_errors	ENST00000357628	ensembl	human	known	74_37	missense	27.27	32	12	SNP	1.000	C	C	124481087	G	C	124481087	3	2	174	1	0	0	0	0	1	0	0	0	12299	1290	45	5	619	5	POT1	7	124481087	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	29479437	124481087	34657576	75	43599											
HIPK2	28996	genome.wustl.edu	37	chr7	139416649	139416649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacggttgtggtggctGgctgcgacagggggatgttc	4	11	19	7	2	0	1	0	1	0	0	1	3	0	2	0	6	2	5	0	6	0	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr7:139416649G>T	ENST00000406875.3	-	2	279	c.185C>A	c.(184-186)cCa>cAa	p.P62Q	HIPK2_ENST00000428878.2_Missense_Mutation_p.P62Q|HIPK2_ENST00000342645.6_Missense_Mutation_p.P62Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	62					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)					TGTGGTGGCTGGCTGCGACAG	0.567																																																	0													90	95	94					7																	139416649		1568	3582	5150	SO:0001583	missense	0			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.185C>A	7.37:g.139416649G>T	ENSP00000385571:p.Pro62Gln		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P62Q	ENST00000406875.3	37	c.185		7	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930067	0.34096	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.51574	0.7;0.72;0.72	5.41	4.47	0.54385	.	.	.	.	.	T	0.40909	0.1136	.	.	.	0.43230	D	0.995124	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.28235	-1.0050	8	0.46703	T	0.11	.	14.9209	0.70838	0.0:0.0:0.8563:0.1437	.	62;62	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	Q	62	ENSP00000385571:P62Q;ENSP00000413724:P62Q;ENSP00000343108:P62Q	ENSP00000343108:P62Q	P	-	2	0	HIPK2	139063135	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.640000	0.61368	2.523000	0.85059	0.655000	0.94253	CCA	HIPK2	-	NULL	ENSG00000064393		0.567	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	-	0	79	0	G	NM_022740		139416649	-1	tier1	-	no_errors	ENST00000406875	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	139416649	G	T	139416649	3	4	174	1	0	0	0	0	1	0	0	0	7144	1348	47	3	3467	3	HIPK2	7	139416649	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	14935562	139416649	19722014	76	43600											
CUL1	8454	genome.wustl.edu	37	chr7	148497645	148497645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttggagcgagtggatggtGaaaaggacacctacagttac	13	9	13	6	1	0	1	0	1	0	0	0	5	0	4	1	4	3	1	1	4	4	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr7:148497645G>A	ENST00000325222.4	+	22	2581	c.2302G>A	c.(2302-2304)Gaa>Aaa	p.E768K	CUL1_ENST00000409469.1_Missense_Mutation_p.E768K|CUL1_ENST00000602748.1_Missense_Mutation_p.E768K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	768					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)			AGTGGATGGTGAAAAGGACAC	0.388																																																	0													116	104	108					7																	148497645		2203	4300	6503	SO:0001583	missense	0			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.2302G>A	7.37:g.148497645G>A	ENSP00000326804:p.Glu768Lys		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E768K	ENST00000325222.4	37	c.2302	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	.	22.8	4.342759	0.82022	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	T;T	0.75260	-0.92;-0.92	5.59	5.59	0.84812	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	L	0.39085	1.19	0.80722	D	1	B;B	0.20052	0.019;0.041	B;B	0.23574	0.015;0.047	T	0.66114	-0.6004	10	0.62326	D	0.03	-0.1732	19.5934	0.95525	0.0:0.0:1.0:0.0	.	695;768	E7EWR0;Q13616	.;CUL1_HUMAN	K	768;768;695	ENSP00000387160:E768K;ENSP00000326804:E768K	ENSP00000326804:E768K	E	+	1	0	CUL1	148128578	1.000000	0.71417	0.971000	0.41717	0.967000	0.64934	9.466000	0.97665	2.635000	0.89317	0.467000	0.42956	GAA	CUL1	-	pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain	ENSG00000055130		0.388	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	-	0	81	0	G	NM_003592		148497645	1	tier1	-	no_errors	ENST00000325222	ensembl	human	known	74_37	missense	54.10	28	33	SNP	1.000	A	A	148497645	G	A	148497645	3	1	174	1	0	0	0	0	1	0	0	0	4063	1291	45	3	2384	3	CUL1	7	148497645	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	9080996	148497645	10641018	77	43601											
FASTK	10922	genome.wustl.edu	37	chr7	150776949	150776949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagcaggccagacagcCgagcaggggaggtctgagca	11	3	16	11	1	2	2	1	1	1	1	2	4	2	3	2	4	5	4	2	4	0	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr7:150776949C>T	ENST00000297532.6	-	2	220	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	FASTK_ENST00000540185.1_Missense_Mutation_p.R14Q|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.R48Q	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	48					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GCCAGACAGCCGAGCAGGGGA	0.622																																																	0													33	21	25					7																	150776949		2196	4298	6494	SO:0001583	missense	0				CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.143G>A	7.37:g.150776949C>T	ENSP00000297532:p.Arg48Gln		A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.R48Q	ENST00000297532.6	37	c.143	CCDS5918.1	7	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003204	0.35320	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000297532;ENST00000482571;ENST00000540185	T;T;T	0.52057	0.68;0.68;0.68	4.64	2.77	0.32553	.	0.221198	0.29537	N	0.011861	T	0.34250	0.0891	N	0.24115	0.695	0.29591	N	0.848441	B;B;D	0.54601	0.098;0.032;0.967	B;B;B	0.42282	0.011;0.005;0.382	T	0.32824	-0.9892	10	0.87932	D	0	-35.999	12.6106	0.56547	0.0:0.6799:0.3201:0.0	.	14;48;48	G3V1R6;F8VTW9;Q14296	.;.;FASTK_HUMAN	Q	48;48;48;48;14	ENSP00000297532:R48Q;ENSP00000418516:R48Q;ENSP00000444498:R14Q	ENSP00000297530:R48Q	R	-	2	0	FASTK	150407882	1.000000	0.71417	0.988000	0.46212	0.897000	0.52465	0.905000	0.28504	0.608000	0.30000	0.655000	0.94253	CGG	FASTK	-	NULL	ENSG00000164896		0.622	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTK	HGNC	protein_coding	OTTHUMT00000351832.2	-	0	21	0	C	NM_006712		150776949	-1	tier1	-	no_errors	ENST00000297532	ensembl	human	known	74_37	missense	61.11	7	11	SNP	0.995	T	T	150776949	C	T	150776949	3	4	174	1	0	0	0	0	1	0	0	0	5706	652	23	1	1542	1	FASTK	7	150776949	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	2279304	150776949	8361714	78	43602											
SLC7A2	6542	genome.wustl.edu	37	chr8	17412489	17412489	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttcctttaccccgaattCtgtttgccatggcccgggat	5	15	9	12	2	1	0	0	0	1	0	2	2	2	1	5	2	2	2	5	2	2	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:17412489C>T	ENST00000494857.1	+	8	1413				SLC7A2_ENST00000470360.1_Silent_p.L404L|SLC7A2_ENST00000004531.10_Intron|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000398090.3_Silent_p.L404L	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						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)	ACCCCGAATTCTGTTTGCCAT	0.438																																																	0													163	146	152					8																	17412489		2203	4300	6503	SO:0001627	intron_variant	0			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.1195+281C>T	8.37:g.17412489C>T			B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.L404	ENST00000494857.1	37	c.1210	CCDS34852.1	8																																																																																			SLC7A2	-	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	ENSG00000003989		0.438	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3	-	0	70	0	C	NM_003046		17412489	1	tier1	-	no_errors	ENST00000398090	ensembl	human	known	74_37	silent	37.04	17	10	SNP	1.000	T	T	17412489	C	T	17412489	1	4	174	0	1	0	0	0	0	0	0	0	14742	912	32	3		3	SLC7A2	8	17412489	Intron	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09		17412489	128951533	79	43603											
LZTS1	11178	genome.wustl.edu	37	chr8	20112381	20112381	+	Frame_Shift_Del	DEL	G	G	-																															ttggagaagggcatgagcttGgggggtgtggacgggtcaaa																								rs184099726		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:20112381delG	ENST00000381569.1	-	2	669	c.312delC	c.(310-312)cccfs	p.P104fs	LZTS1_ENST00000522290.1_Frame_Shift_Del_p.P104fs|LZTS1_ENST00000265801.6_Frame_Shift_Del_p.P104fs			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	104					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)		GCATGAGCTTGGGGGGTGTGG	0.602																																																	0													37	38	38					8																	20112381		2203	4300	6503	SO:0001589	frameshift_variant	0			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.312delC	8.37:g.20112381delG	ENSP00000370981:p.Pro104fs		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Frame_Shift_Del	DEL	NULL	p.K105fs	ENST00000381569.1	37	c.312	CCDS6015.1	8																																																																																			LZTS1	-	NULL	ENSG00000061337		0.602	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1		0	29	0	G	NM_021020		20112381	-1	tier1		no_errors	ENST00000265801	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	0.989	-	-	20112381	G	-	20112381	7	5	174	1	0	1	0	1	0	0	0	0	9174	1335	47	0	1490	0	LZTS1	8	20112381	Frame_Shift_Del	DEL	G	TCGA-VR-AA7B-01A-31D-A403-09	2699892	20112381	126251641	80	43604											
PRKDC	5591	genome.wustl.edu	37	chr8	48866215	48866215	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtgaagttgcacagaagtGaggacaaccccttcagacat	14	8	10	9	0	1	4	1	2	0	2	1	5	1	5	2	1	2	2	2	1	4	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:48866215G>C	ENST00000314191.2	-	7	742	c.686C>G	c.(685-687)tCa>tGa	p.S229*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S229*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	229					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCACAGAAGTGAGGACAACCC	0.398								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													77	74	75					8																	48866215		1906	4134	6040	SO:0001587	stop_gained	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.686C>G	8.37:g.48866215G>C	ENSP00000313420:p.Ser229*		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S229*	ENST00000314191.2	37	c.686		8	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859914	0.91433	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.54	5.54	0.83059	.	0.164875	0.39146	N	0.001447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.4831	0.95018	0.0:0.0:1.0:0.0	.	.	.	.	X	229	.	ENSP00000313420:S229X	S	-	2	0	PRKDC	49028768	1.000000	0.71417	0.516000	0.27786	0.724000	0.41520	8.378000	0.90144	2.602000	0.87976	0.655000	0.94253	TCA	PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.398	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	36	0	G	NM_001081640		48866215	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	nonsense	18.75	39	9	SNP	1.000	C	C	48866215	G	C	48866215	4	2	174	1	0	0	0	0	0	1	0	0	12563	1294	45	5	12019	5	PRKDC	8	48866215	Nonsense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	28753834	48866215	97497807	81	43605											
NCOA2	10499	genome.wustl.edu	37	chr8	71050559	71050559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccatgttcatctctaattCagatggccctagaaagggag	11	10	9	11	0	3	2	2	0	1	2	4	3	3	3	3	2	0	1	3	2	3	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:71050559C>G	ENST00000452400.2	-	15	3218	c.3037G>C	c.(3037-3039)Gaa>Caa	p.E1013Q	NCOA2_ENST00000267974.4_Missense_Mutation_p.E101Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1013					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.E1013Q(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATCTCTAATTCAGATGGCCCT	0.413			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	1	Substitution - Missense(1)	lung(1)											80	75	77					8																	71050559		1824	4083	5907	SO:0001583	missense	0			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.3037G>C	8.37:g.71050559C>G	ENSP00000399968:p.Glu1013Gln		Q14CD2	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.E1013Q	ENST00000452400.2	37	c.3037	CCDS47872.1	8	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793296	0.90453	.	.	ENSG00000140396	ENST00000452400;ENST00000267974	T;T	0.08984	4.58;3.03	5.88	5.88	0.94601	.	0.209202	0.49916	D	0.000138	T	0.29556	0.0737	M	0.77103	2.36	0.43347	D	0.9954	D;P	0.62365	0.991;0.86	P;B	0.58820	0.846;0.395	T	0.00569	-1.1666	10	0.72032	D	0.01	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	101;1013	F8WAJ2;Q15596	.;NCOA2_HUMAN	Q	1013;101	ENSP00000399968:E1013Q;ENSP00000267974:E101Q	ENSP00000267974:E101Q	E	-	1	0	NCOA2	71213113	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.432000	0.66514	2.782000	0.95742	0.655000	0.94253	GAA	NCOA2	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000140396		0.413	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	-	0	169	0	C			71050559	-1	tier1	-	no_errors	ENST00000452400	ensembl	human	known	74_37	missense	10.82	173	21	SNP	1.000	G	G	71050559	C	G	71050559	3	3	174	1	0	0	0	0	1	0	0	0	10268	835	29	5	1393	5	NCOA2	8	71050559	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	22184344	71050559	75313463	82	43606											
TMEM70	54968	genome.wustl.edu	37	chr8	74893683	74893683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatgatgtgaagattccaGatgctaaacatgtatttacc	15	12	8	6	0	0	5	0	2	0	3	1	5	1	5	2	0	3	2	2	0	6	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:74893683G>C	ENST00000312184.5	+	3	683	c.610G>C	c.(610-612)Gat>Cat	p.D204H	Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	204					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)			GAAGATTCCAGATGCTAAACA	0.383																																																	0													136	125	129					8																	74893683		2203	4300	6503	SO:0001583	missense	0			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.610G>C	8.37:g.74893683G>C	ENSP00000312599:p.Asp204His		E9PDY9|Q9NWY5	Missense_Mutation	SNP	pfam_DUF1301_TMEM70	p.D204H	ENST00000312184.5	37	c.610	CCDS6215.1	8	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432270	0.25813	.	.	ENSG00000175606	ENST00000312184	T	0.66460	-0.21	5.38	-2.66	0.06077	.	0.892934	0.09959	N	0.733609	T	0.75759	0.3893	M	0.68593	2.085	0.21256	N	0.999745	D	0.60575	0.988	P	0.62813	0.907	T	0.69993	-0.4994	10	0.66056	D	0.02	-2.3968	12.2356	0.54514	0.4979:0.0:0.5021:0.0	.	204	Q9BUB7	TMM70_HUMAN	H	204	ENSP00000312599:D204H	ENSP00000312599:D204H	D	+	1	0	TMEM70	75056237	0.004000	0.15560	0.003000	0.11579	0.012000	0.07955	0.664000	0.25068	-0.765000	0.04645	0.655000	0.94253	GAT	TMEM70	-	pfam_DUF1301_TMEM70	ENSG00000175606		0.383	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM70	HGNC	protein_coding	OTTHUMT00000379028.1	-	0	45	0	G	NM_017866		74893683	1	tier1	-	no_errors	ENST00000312184	ensembl	human	known	74_37	missense	21.21	52	14	SNP	0.117	C	C	74893683	G	C	74893683	3	2	174	1	0	0	0	0	1	0	0	0	16246	942	33	5	628	5	TMEM70	8	74893683	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	3843124	74893683	71470339	83	43607											
LRRCC1	85444	genome.wustl.edu	37	chr8	86027421	86027421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaaccagtaaatttgacaGaaataaattcatcacagctg	17	10	7	7	0	2	3	2	2	0	1	2	3	2	3	1	0	2	2	1	0	6	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:86027421G>A	ENST00000360375.3	+	5	780	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	LRRCC1_ENST00000414626.2_Missense_Mutation_p.E191K	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	211	LRRCT.				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						AAATTTGACAGAAATAAATTC	0.363																																																	0													97	98	97					8																	86027421		1825	4088	5913	SO:0001583	missense	0			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.631G>A	8.37:g.86027421G>A	ENSP00000353538:p.Glu211Lys		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin	p.E211K	ENST00000360375.3	37	c.631	CCDS43750.1	8	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681148	0.47886	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.34859	1.34;1.36	5.52	3.72	0.42706	.	0.183530	0.26650	N	0.023209	T	0.42877	0.1222	M	0.76574	2.34	0.20926	N	0.999826	P;B;P	0.43477	0.808;0.047;0.627	B;B;B	0.43990	0.438;0.021;0.219	T	0.34650	-0.9820	10	0.52906	T	0.07	-11.2171	11.5676	0.50815	0.1441:0.0:0.8559:0.0	.	191;118;211	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	K	118;211;191	ENSP00000353538:E211K;ENSP00000394695:E191K	ENSP00000353538:E211K	E	+	1	0	LRRCC1	86214673	0.990000	0.36364	0.019000	0.16419	0.871000	0.50021	1.644000	0.37228	0.691000	0.31592	0.460000	0.39030	GAA	LRRCC1	-	NULL	ENSG00000133739		0.363	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRCC1	HGNC	protein_coding	OTTHUMT00000380267.1	-	0	80	0	G	NM_033402		86027421	1	tier1	-	no_errors	ENST00000360375	ensembl	human	known	74_37	missense	6.30	119	8	SNP	0.157	A	A	86027421	G	A	86027421	3	1	174	1	0	0	0	0	1	0	0	0	9061	943	33	3	649	3	LRRCC1	8	86027421	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	11133738	86027421	60336601	84	43608											
FBXO43	286151	genome.wustl.edu	37	chr8	101154003	101154003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttagaagagcgaaagatAcattcaaccttctgcgaggt	13	11	9	8	2	2	3	1	0	1	3	2	5	2	3	1	1	4	0	1	1	5	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:101154003A>G	ENST00000428847.2	-	2	795	c.479T>C	c.(478-480)gTa>gCa	p.V160A		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	160					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGCGAAAGATACATTCAACCT	0.338																																																	0													104	96	98					8																	101154003		1808	4073	5881	SO:0001583	missense	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.479T>C	8.37:g.101154003A>G	ENSP00000403293:p.Val160Ala			Missense_Mutation	SNP	pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC	p.V160A	ENST00000428847.2	37	c.479	CCDS47904.1	8	.	.	.	.	.	.	.	.	.	.	A	14.37	2.514095	0.44763	.	.	ENSG00000156509	ENST00000428847	T	0.34072	1.38	5.44	5.44	0.79542	.	0.923878	0.09248	N	0.828292	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B;B	0.27791	0.084;0.189	B;B	0.19148	0.014;0.024	T	0.27773	-1.0064	10	0.72032	D	0.01	0.1511	15.801	0.78453	1.0:0.0:0.0:0.0	.	126;160	C9J908;Q4G163	.;FBX43_HUMAN	A	160	ENSP00000403293:V160A	ENSP00000403293:V160A	V	-	2	0	FBXO43	101223179	0.050000	0.20438	0.009000	0.14445	0.016000	0.09150	2.698000	0.47068	2.194000	0.70268	0.460000	0.39030	GTA	FBXO43	-	NULL	ENSG00000156509		0.338	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	-	0	59	0	A	XM_209918		101154003	-1	tier1	-	no_errors	ENST00000428847	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.031	G	G	101154003	A	G	101154003	3	3	174	1	0	0	0	0	1	0	0	0	5774	391	14	4	1663	4	FBXO43	8	101154003	Missense_Mutation	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09	15126582	101154003	45210019	85	43609											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110408292	110408292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccttcacaaggaagcattcGaggtggcaccacgctgacaa	12	6	10	13	2	1	1	1	1	0	0	2	3	1	2	2	3	1	3	2	3	3	2	rs199719733		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:110408292G>A	ENST00000378402.5	+	11	952	c.848G>A	c.(847-849)cGa>cAa	p.R283Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	283	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAAGCATTCGAGGTGGCACC	0.388										HNSCC(38;0.096)																																							0													68	62	64					8																	110408292		2004	4192	6196	SO:0001583	missense	0			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.848G>A	8.37:g.110408292G>A	ENSP00000367655:p.Arg283Gln		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.R283Q	ENST00000378402.5	37	c.848	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	3.898	-0.022531	0.07634	.	.	ENSG00000205038	ENST00000378402	T	0.75938	-0.98	5.81	0.789	0.18607	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.625251	0.15913	N	0.238539	T	0.29190	0.0726	N	0.00128	-2.045	0.09310	N	0.999997	B	0.06786	0.001	B	0.08055	0.003	T	0.42378	-0.9455	10	0.13470	T	0.59	.	6.5379	0.22365	0.7137:0.1286:0.1577:0.0	.	283	Q86WI1	PKHL1_HUMAN	Q	283	ENSP00000367655:R283Q	ENSP00000367655:R283Q	R	+	2	0	PKHD1L1	110477468	0.181000	0.23161	0.160000	0.22671	0.272000	0.26649	0.470000	0.22084	-0.104000	0.12154	-0.137000	0.14449	CGA	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	80	0	G	NM_177531		110408292	1	tier1	rs199719733	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	15.79	64	12	SNP	0.280	A	A	110408292	G	A	110408292	3	1	174	1	0	0	0	0	1	0	0	0	12011	1058	37	1	890	1	PKHD1L1	8	110408292	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	9254289	110408292	35955730	86	43610											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110471942	110471942	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattacggtcacactccctGatggaactctgtttgaagca	11	11	9	10	1	2	2	1	2	1	0	3	4	3	3	1	2	3	2	1	2	4	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:110471942G>C	ENST00000378402.5	+	47	7227	c.7123G>C	c.(7123-7125)Gat>Cat	p.D2375H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2375					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)			CACACTCCCTGATGGAACTCT	0.363										HNSCC(38;0.096)																																							0													77	71	73					8																	110471942		1855	4102	5957	SO:0001583	missense	0			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.7123G>C	8.37:g.110471942G>C	ENSP00000367655:p.Asp2375His		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.D2375H	ENST00000378402.5	37	c.7123	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542183	0.85917	.	.	ENSG00000205038	ENST00000378402	D	0.93488	-3.23	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	M	0.82323	2.585	0.44677	D	0.997662	B	0.33904	0.431	B	0.41332	0.354	D	0.94910	0.8064	10	0.72032	D	0.01	.	16.7525	0.85489	0.0:0.0:1.0:0.0	.	2375	Q86WI1	PKHL1_HUMAN	H	2375	ENSP00000367655:D2375H	ENSP00000367655:D2375H	D	+	1	0	PKHD1L1	110541118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.957000	0.87870	2.566000	0.86566	0.455000	0.32223	GAT	PKHD1L1	-	NULL	ENSG00000205038		0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	115	0	G	NM_177531		110471942	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	8.00	138	12	SNP	1.000	C	C	110471942	G	C	110471942	3	2	174	1	0	0	0	0	1	0	0	0	12011	1290	45	5	7309	5	PKHD1L1	8	110471942	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	63650	110471942	35892080	87	43611											
ZHX1	11244	genome.wustl.edu	37	chr8	124265591	124265591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgatttagacagcttccGtttcacatgtcgtggaggtt	8	15	10	8	2	2	2	1	1	1	1	4	3	3	3	1	2	1	3	1	2	1	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:124265591G>A	ENST00000522655.1	-	3	3136	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.R866W|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Missense_Mutation_p.R866W			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	866	Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			GACAGCTTCCGTTTCACATGT	0.378																																																	0													192	184	187					8																	124265591		2203	4300	6503	SO:0001583	missense	0			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.2596C>T	8.37:g.124265591G>A	ENSP00000428821:p.Arg866Trp		Q8IWD8	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.R866W	ENST00000522655.1	37	c.2596	CCDS6342.1	8	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660631	0.67586	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.28666	1.6;1.6;1.6	5.95	5.06	0.68205	.	0.082877	0.48286	D	0.000190	T	0.40145	0.1105	.	.	.	0.49130	D	0.999759	D	0.67145	0.996	P	0.46885	0.53	T	0.44436	-0.9328	9	0.87932	D	0	-6.3926	16.4882	0.84190	0.0:0.0:0.8678:0.1322	.	866	Q9UKY1	ZHX1_HUMAN	W	866	ENSP00000297857:R866W;ENSP00000378938:R866W;ENSP00000428821:R866W	ENSP00000297857:R866W	R	-	1	2	ZHX1	124334772	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.203000	0.58453	1.502000	0.48669	0.491000	0.48974	CGG	ZHX1	-	NULL	ENSG00000165156		0.378	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	-	0	70	0	G			124265591	-1	tier1	-	no_errors	ENST00000297857	ensembl	human	known	74_37	missense	7.21	103	8	SNP	1.000	A	A	124265591	G	A	124265591	3	1	174	1	0	0	0	0	1	0	0	0	17723	1144	40	1	29	1	ZHX1	8	124265591	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	13793649	124265591	22098431	88	43612											
ATAD2	29028	genome.wustl.edu	37	chr8	124368675	124368675	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgtactggagccagaccatCaatttcgtcaaaaaaaataa	17	8	6	10	2	2	1	2	0	0	1	3	2	2	2	3	1	2	1	3	1	7	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:124368675C>G	ENST00000287394.5	-	13	1707	c.1600G>C	c.(1600-1602)Gat>Cat	p.D534H	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	534					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCAGACCATCAATTTCGTCA	0.423																																																	0													95	79	85					8																	124368675		2203	4300	6503	SO:0001583	missense	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1600G>C	8.37:g.124368675C>G	ENSP00000287394:p.Asp534His		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.D534H	ENST00000287394.5	37	c.1600	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045470	0.93685	.	.	ENSG00000156802	ENST00000287394	D	0.95588	-3.75	5.14	5.14	0.70334	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.210240	0.49916	D	0.000139	D	0.97589	0.9210	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.98249	1.0492	10	0.87932	D	0	-12.021	18.9523	0.92645	0.0:1.0:0.0:0.0	.	364;534	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	H	534	ENSP00000287394:D534H	ENSP00000287394:D534H	D	-	1	0	ATAD2	124437856	1.000000	0.71417	0.973000	0.42090	0.980000	0.70556	7.776000	0.85560	2.549000	0.85964	0.467000	0.42956	GAT	ATAD2	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000156802		0.423	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	-	0	58	0	C	NM_014109		124368675	-1	tier1	-	no_errors	ENST00000287394	ensembl	human	known	74_37	missense	11.32	94	12	SNP	1.000	G	G	124368675	C	G	124368675	3	3	174	1	0	0	0	0	1	0	0	0	1072	826	29	5	2636	5	ATAD2	8	124368675	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	103084	124368675	21995347	89	43613											
FAM135B	51059	genome.wustl.edu	37	chr8	139144977	139144977	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacacgttgtgtcggattaaAgtgcagtccttggcttcaac	10	12	10	9	2	1	0	1	0	0	0	3	1	2	1	1	2	3	3	1	2	4	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:139144977A>C	ENST00000395297.1	-	20	4250	c.4080T>G	c.(4078-4080)acT>acG	p.T1360T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1360										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)			GTCGGATTAAAGTGCAGTCCT	0.547										HNSCC(54;0.14)																																							0													246	253	251					8																	139144977		1978	4161	6139	SO:0001819	synonymous_variant	0			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.4080T>G	8.37:g.139144977A>C			B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.T1360	ENST00000395297.1	37	c.4080	CCDS6375.2	8																																																																																			FAM135B	-	NULL	ENSG00000147724		0.547	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	44	0	A	NM_015912		139144977	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	silent	24.56	43	14	SNP	0.976	C	C	139144977	A	C	139144977	2	2	174	1	0	0	0	0	0	0	0	1	5468	59	3	4		4	FAM135B	8	139144977	Silent	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09	14776302	139144977	7219045	90	43614											
FAM135B	51059	genome.wustl.edu	37	chr8	139255189	139255189	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacacaggccttacctctGaggaagtcggcttgcagtac	9	8	10	14	1	1	1	0	1	1	0	2	2	1	2	3	3	3	3	3	3	3	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:139255189G>C	ENST00000395297.1	-	7	835	c.665C>G	c.(664-666)tCa>tGa	p.S222*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	222								p.S222*(2)		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)			CCTTACCTCTGAGGAAGTCGG	0.463										HNSCC(54;0.14)																																							2	Substitution - Nonsense(2)	lung(2)											73	74	74					8																	139255189		1896	4110	6006	SO:0001587	stop_gained	0			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.665C>G	8.37:g.139255189G>C	ENSP00000378710:p.Ser222*		B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.S222*	ENST00000395297.1	37	c.665	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	39	7.525404	0.98339	.	.	ENSG00000147724	ENST00000395297	.	.	.	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-12.8918	17.0154	0.86418	0.0:0.0:1.0:0.0	.	.	.	.	X	222	.	ENSP00000276737:S222X	S	-	2	0	FAM135B	139324371	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.734000	0.91543	2.441000	0.82636	0.655000	0.94253	TCA	FAM135B	-	NULL	ENSG00000147724		0.463	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	65	0	G	NM_015912		139255189	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	nonsense	12.07	51	7	SNP	1.000	C	C	139255189	G	C	139255189	4	2	174	1	0	0	0	0	0	1	0	0	5468	1294	45	5	3611	5	FAM135B	8	139255189	Nonsense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	110212	139255189	7108833	91	43615											
ZNF250	58500	genome.wustl.edu	37	chr8	146115388	146115388	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccctctgagcagggcacagGcggtcccattcatcctggga	7	7	12	15	1	2	1	1	1	1	0	4	2	4	2	4	4	1	2	4	4	0	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr8:146115388G>T	ENST00000292579.7	-	3	230	c.114C>A	c.(112-114)cgC>cgA	p.R38R	ZNF250_ENST00000543949.1_Silent_p.R38R|ZNF250_ENST00000342660.6_Silent_p.R33R|ZNF250_ENST00000417550.2_Silent_p.R33R	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	38	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(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CAGGGCACAGGCGGTCCCATT	0.537																																					NSCLC(16;520 556 24096 40084 43446)												0													63	52	56					8																	146115388		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.114C>A	8.37:g.146115388G>T			D3DWP1|Q59HE9|Q8N942|Q96AH9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R38	ENST00000292579.7	37	c.114	CCDS34972.1	8																																																																																			ZNF250	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196150		0.537	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF250	HGNC	protein_coding	OTTHUMT00000382968.1	-	0	47	0	G	NM_021061		146115388	-1	tier1	-	no_errors	ENST00000292579	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.045	T	T	146115388	G	T	146115388	2	4	174	1	0	0	0	0	0	0	0	1	17843	1190	42	3		3	ZNF250	8	146115388	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	6860199	146115388	248634	92	43616											
CYLC2	1539	genome.wustl.edu	37	chr9	105767853	105767853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atactgagaaagaatctgctGattcaaagaaggatgcaaag	18	8	10	5	0	2	4	1	2	1	3	2	6	2	5	0	1	3	2	0	1	6	2	rs367661428		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr9:105767853G>C	ENST00000374798.3	+	5	1010	c.940G>C	c.(940-942)Gat>Cat	p.D314H	CYLC2_ENST00000487798.1_Missense_Mutation_p.D314H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	314	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AGAATCTGCTGATTcaaagaa	0.398																																																	0													52	52	52					9																	105767853		2203	4300	6503	SO:0001583	missense	0			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.940G>C	9.37:g.105767853G>C	ENSP00000420256:p.Asp314His		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.D314H	ENST00000374798.3	37	c.940	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	G	8.366	0.834260	0.16820	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.23754	1.89;1.89	3.26	1.37	0.22104	.	6.028330	0.00166	N	0.000004	T	0.23133	0.0559	L	0.27053	0.805	0.09310	N	1	P	0.40794	0.729	B	0.43575	0.424	T	0.17289	-1.0374	10	0.48119	T	0.1	-0.0672	4.6349	0.12520	0.3004:0.0:0.6996:0.0	.	314	Q14093	CYLC2_HUMAN	H	314	ENSP00000420256:D314H;ENSP00000417674:D314H	ENSP00000420256:D314H	D	+	1	0	CYLC2	104807674	0.012000	0.17670	0.023000	0.16930	0.077000	0.17291	0.874000	0.28065	0.708000	0.31955	0.585000	0.79938	GAT	CYLC2	-	NULL	ENSG00000155833		0.398	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	-	0	125	0	G	NM_001340		105767853	1	tier1	-	no_errors	ENST00000374798	ensembl	human	known	74_37	missense	64.18	24	43	SNP	0.005	C	C	105767853	G	C	105767853	3	2	174	1	0	0	0	0	1	0	0	0	4151	1290	45	5	958	5	CYLC2	9	105767853	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09		105767853	35445578	93	43617											
CDC26	246184	genome.wustl.edu	37	chr9	116029647	116029647	+	Missense_Mutation	SNP	T	T	C	0	1	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	ttcccggctcttgggatcacTgctaagcccaatggctcctt	6	12	9	14	1	2	0	1	0	1	0	4	1	4	1	3	3	2	3	3	3	2	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr9:116029647T>C	ENST00000374206.3	-	4	512	c.154A>G	c.(154-156)Agt>Ggt	p.S52G	CDC26_ENST00000490408.1_Intron	NM_139286.3	NP_644815.1	Q8NHZ8	CDC26_HUMAN	cell division cycle 26	52					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)											TTGGGATCACTGCTAAGCCCA	0.423																																																	0													83	90	88					9																	116029647		2202	4288	6490	SO:0001583	missense	0			AF503918	CCDS6790.1	9q32	2013-01-17	2013-01-17	2003-11-26	ENSG00000176386	ENSG00000176386		"Anaphase promoting complex subunits"	17839	protein-coding gene	gene with protein product	"CDC26 subunit of anaphase promoting complex", "anaphase promoting complex subunit 12"	614533	"chromosome 9 open reading frame 17", "cell division cycle 26", "cell division cycle 26 homolog (S. cerevisiae)"	C9orf17		8895471, 10922056	Standard	NM_139286		Approved	APC12, ANAPC12	uc004bgw.2	Q8NHZ8	OTTHUMG00000020521	ENST00000374206.3:c.154A>G	9.37:g.116029647T>C	ENSP00000363322:p.Ser52Gly			Missense_Mutation	SNP	pfam_APC_suCDC26	p.S52G	ENST00000374206.3	37	c.154	CCDS6790.1	9	.	.	.	.	.	.	.	.	.	.	T	10.35	1.324567	0.24080	.	.	ENSG00000176386	ENST00000374206	.	.	.	5.53	4.4	0.53042	.	0.453405	0.25987	N	0.027031	T	0.33673	0.0871	.	.	.	0.29754	N	0.8361	B	0.16396	0.017	B	0.22880	0.042	T	0.23368	-1.0190	8	0.28530	T	0.3	-2.922	8.5453	0.33417	0.0:0.158:0.0:0.842	.	52	Q8NHZ8	CDC26_HUMAN	G	52	.	ENSP00000363322:S52G	S	-	1	0	CDC26	115069468	0.989000	0.36119	0.998000	0.56505	0.945000	0.59286	1.851000	0.39338	1.055000	0.40461	0.460000	0.39030	AGT	CDC26	-	pfam_APC_suCDC26	ENSG00000176386		0.423	CDC26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC26	HGNC	protein_coding	OTTHUMT00000053723.1	-	0	54	0	T	NM_139286		116029647	-1	tier1	-	no_errors	ENST00000374206	ensembl	human	known	74_37	missense	57.89	16	22	SNP	0.997	C	C	116029647	T	C	116029647	3	2	174	1	0	0	0	0	1	0	0	0	3072	1580	55	4	107	4	CDC26	9	116029647	Missense_Mutation	SNP	T	TCGA-VR-AA7B-01A-31D-A403-09	10261794	116029647	25183784	94	43618											
DBC1	1620	genome.wustl.edu	37	chr9	122011301	122011301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgatggtatcgatgaactGctgagtggtaggtctcctgc	8	12	14	7	1	1	3	0	3	1	0	3	5	1	3	1	3	3	3	1	3	3	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr9:122011301G>T	ENST00000265922.3	-	3	807	c.346C>A	c.(346-348)Cag>Aag	p.Q116K	BRINP1_ENST00000373964.2_Missense_Mutation_p.Q116K	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	116	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)											TCGATGAACTGCTGAGTGGTA	0.567																																																	0													143	106	118					9																	122011301		2203	4300	6503	SO:0001583	missense	0			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.346C>A	9.37:g.122011301G>T	ENSP00000265922:p.Gln116Lys		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.Q116K	ENST00000265922.3	37	c.346	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171689	0.78452	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.83914	-1.78;-1.78	5.66	5.66	0.87406	Membrane attack complex component/perforin (MACPF) domain (2);	0.051014	0.85682	D	0.000000	T	0.79358	0.4432	L	0.38838	1.175	0.80722	D	1	P;B	0.35612	0.512;0.414	B;B	0.35353	0.201;0.162	T	0.79115	-0.1936	10	0.54805	T	0.06	-16.7376	20.1076	0.97898	0.0:0.0:1.0:0.0	.	116;116	O60477-2;O60477	.;DBC1_HUMAN	K	116	ENSP00000265922:Q116K;ENSP00000363075:Q116K	ENSP00000265922:Q116K	Q	-	1	0	DBC1	121051122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.589000	0.67523	2.823000	0.97156	0.650000	0.86243	CAG	BRINP1	-	pfam_MACPF,smart_MACPF	ENSG00000078725		0.567	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2		0	67	0	G	NM_014618		122011301	-1			no_errors	ENST00000265922	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	122011301	G	T	122011301	3	4	174	1	0	0	0	0	1	0	0	0	4256	1328	46	3	1963	3	DBC1	9	122011301	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	5981654	122011301	19202130	95	43619											
ZNF79	7633	genome.wustl.edu	37	chr9	130206956	130206956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	cctcacgaaccatcagaggaCtcacaccggggagaagccct	12	4	10	15	2	3	2	3	0	0	2	3	5	3	3	4	3	2	0	4	3	2	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr9:130206956C>T	ENST00000342483.5	+	5	1383	c.977C>T	c.(976-978)aCt>aTt	p.T326I	ZNF79_ENST00000543471.1_Missense_Mutation_p.T302I	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	326					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						CATCAGAGGACTCACACCGGG	0.557																																																	0													114	104	107					9																	130206956		2203	4300	6503	SO:0001583	missense	0			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.977C>T	9.37:g.130206956C>T	ENSP00000362446:p.Thr326Ile		Q5VVW1|Q96NV1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T326I	ENST00000342483.5	37	c.977	CCDS6871.1	9	.	.	.	.	.	.	.	.	.	.	C	0.070	-1.204084	0.01581	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.12672	2.66;2.66	3.83	2.93	0.34026	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06416	0.0165	N	0.25094	0.71	0.24000	N	0.996219	B	0.31548	0.328	B	0.28011	0.085	T	0.33007	-0.9885	9	0.02654	T	1	.	5.0421	0.14463	0.0:0.6654:0.2169:0.1177	.	326	Q15937	ZNF79_HUMAN	I	326;302	ENSP00000362446:T326I;ENSP00000438418:T302I	ENSP00000362446:T326I	T	+	2	0	ZNF79	129246777	0.000000	0.05858	0.998000	0.56505	0.816000	0.46133	0.058000	0.14301	0.823000	0.34589	0.655000	0.94253	ACT	ZNF79	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196152		0.557	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF79	HGNC	protein_coding	OTTHUMT00000054188.1	-	0	64	0	C	NM_007135		130206956	1	tier1	-	no_errors	ENST00000342483	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.970	T	T	130206956	C	T	130206956	3	4	174	1	0	0	0	0	1	0	0	0	18209	565	20	3	995	3	ZNF79	9	130206956	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	8195655	130206956	11006475	96	43620											
COQ4	51117	genome.wustl.edu	37	chr9	131088140	131088140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctccctcggtcgcgagtatCtccgtttcctggatgtgaac	5	12	11	13	4	1	1	0	1	1	0	6	3	3	2	3	2	1	3	3	2	2	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr9:131088140C>G	ENST00000300452.3	+	4	705	c.382C>G	c.(382-384)Ctc>Gtc	p.L128V	COQ4_ENST00000372875.3_Missense_Mutation_p.L128V	NM_016035.3	NP_057119			coenzyme Q4											endometrium(4)|large_intestine(1)|lung(4)	9						TCGCGAGTATCTCCGTTTCCT	0.572																																																	0													88	69	75					9																	131088140		2203	4300	6503	SO:0001583	missense	0			AF151850	CCDS6898.1	9q34.2	2013-10-18	2013-10-18		ENSG00000167113	ENSG00000167113			19693	protein-coding gene	gene with protein product		612898	"coenzyme Q4 homolog (yeast)", "coenzyme Q4 homolog (S. cerevisiae)"			11469793, 18474229	Standard	NM_016035		Approved	CGI-92	uc004bur.4	Q9Y3A0	OTTHUMG00000020743	ENST00000300452.3:c.382C>G	9.37:g.131088140C>G	ENSP00000300452:p.Leu128Val			Missense_Mutation	SNP	pfam_Coq4	p.L128V	ENST00000300452.3	37	c.382	CCDS6898.1	9	.	.	.	.	.	.	.	.	.	.	C	0.552	-0.849027	0.02651	.	.	ENSG00000167113	ENST00000300452;ENST00000372875	T;T	0.39056	1.1;1.1	5.75	4.84	0.62591	.	0.339266	0.31760	N	0.007106	T	0.20577	0.0495	N	0.04018	-0.295	0.38384	D	0.945204	B;B	0.20261	0.043;0.026	B;B	0.30316	0.114;0.038	T	0.17837	-1.0356	10	0.12430	T	0.62	-0.9116	9.2534	0.37568	0.1171:0.4893:0.3936:0.0	.	128;128	Q5T4B9;Q9Y3A0	.;COQ4_HUMAN	V	128	ENSP00000300452:L128V;ENSP00000361966:L128V	ENSP00000300452:L128V	L	+	1	0	COQ4	130127961	0.998000	0.40836	1.000000	0.80357	0.207000	0.24258	1.411000	0.34702	2.714000	0.92807	0.563000	0.77884	CTC	COQ4	-	pfam_Coq4	ENSG00000167113		0.572	COQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ4	HGNC	protein_coding	OTTHUMT00000054427.1		0	42	0	C	NM_016035		131088140	1			no_errors	ENST00000300452	ensembl	human	known	74_37	missense	15.38	11	2	SNP	1.000	G	G	131088140	C	G	131088140	3	3	174	1	0	0	0	0	1	0	0	0	3754	913	32	5	396	5	COQ4	9	131088140	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	881184	131088140	10125291	97	43621											
COBRA1	25920	genome.wustl.edu	37	chr9	140151336	140151336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtatcgagcctgcgccGtggaggtgaagcggcagatc	8	7	16	10	4	0	2	0	1	0	1	2	4	0	3	2	3	4	3	2	3	2	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr9:140151336G>A	ENST00000343053.4	+	4	764	c.427G>A	c.(427-429)Gtg>Atg	p.V143M		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	143					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)											AGCCTGCGCCGTGGAGGTGAA	0.572																																																	0													88	78	81					9																	140151336		2203	4300	6503	SO:0001583	missense	0			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.427G>A	9.37:g.140151336G>A	ENSP00000339495:p.Val143Met		A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	pfam_COBRA1	p.V143M	ENST00000343053.4	37	c.427	CCDS7040.1	9	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445194	0.83993	.	.	ENSG00000188986	ENST00000343053	.	.	.	5.55	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	M	0.67953	2.075	0.58432	D	0.999991	D	0.89917	1.0	D	0.72982	0.979	T	0.76350	-0.2991	9	0.48119	T	0.1	-52.5805	13.1341	0.59399	0.0779:0.0:0.9221:0.0	.	143	Q8WX92	NELFB_HUMAN	M	143	.	ENSP00000339495:V143M	V	+	1	0	COBRA1	139271157	1.000000	0.71417	0.864000	0.33941	0.946000	0.59487	7.659000	0.83766	1.337000	0.45525	0.561000	0.74099	GTG	NELFB	-	pfam_COBRA1	ENSG00000188986		0.572	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELFB	HGNC	protein_coding	OTTHUMT00000254710.1	-	0	29	0	G	NM_015456		140151336	1	tier1	-	no_errors	ENST00000343053	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.995	A	A	140151336	G	A	140151336	3	1	174	1	0	0	0	0	1	0	0	0	3662	1145	40	1	441	1	COBRA1	9	140151336	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	9063196	140151336	1062095	98	43622											
ITIH2	3698	genome.wustl.edu	37	chr10	7786241	7786241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggctcaagtcacgaatcaGaggcaagtatgattccatct	13	9	9	10	2	4	2	3	1	1	1	5	3	5	2	1	2	0	3	1	2	4	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr10:7786241G>C	ENST00000358415.4	+	18	2572	c.2406G>C	c.(2404-2406)caG>caC	p.Q802H	ITIH2_ENST00000379587.4_Missense_Mutation_p.Q791H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	802					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCACGAATCAGAGGCAAGTAT	0.443																																																	0													106	87	93					10																	7786241		2203	4300	6503	SO:0001583	missense	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2406G>C	10.37:g.7786241G>C	ENSP00000351190:p.Gln802His		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.Q802H	ENST00000358415.4	37	c.2406	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	G	9.990	1.230586	0.22542	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.11930	2.73;2.73	4.98	-3.04	0.05412	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.693119	0.14283	N	0.329382	T	0.07548	0.0190	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.24512	-1.0158	10	0.42905	T	0.14	0.3149	6.0662	0.19864	0.4289:0.2292:0.3419:0.0	.	802	P19823	ITIH2_HUMAN	H	802;791	ENSP00000351190:Q802H;ENSP00000368906:Q791H	ENSP00000351190:Q802H	Q	+	3	2	ITIH2	7826247	0.195000	0.23338	0.013000	0.15412	0.025000	0.11179	0.200000	0.17257	-0.573000	0.05998	-0.140000	0.14226	CAG	ITIH2	-	pfam_ITI_HC_C	ENSG00000151655		0.443	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	-	0	36	0	G	NM_002216		7786241	1	tier1	-	no_errors	ENST00000358415	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.021	C	C	7786241	G	C	7786241	3	2	174	1	0	0	0	0	1	0	0	0	7931	933	33	5	2476	5	ITIH2	10	7786241	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09		7786241	127748506	99	43623											
USP6NL	9712	genome.wustl.edu	37	chr10	11505038	11505038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggggggattgctgtaggagGggggatgagctagccctcgg	6	7	21	7	2	0	1	0	1	0	0	1	4	0	4	1	8	3	3	1	8	2	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr10:11505038G>A	ENST00000609104.1	-	15	2283	c.1889C>T	c.(1888-1890)cCc>cTc	p.P630L	USP6NL_ENST00000379237.2_Missense_Mutation_p.P653L|USP6NL_ENST00000277575.5_Missense_Mutation_p.P647L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	630					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTGTAGGAGGGGGGATGAGC	0.512																																																	0													47	47	47					10																	11505038		1927	4139	6066	SO:0001583	missense	0			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1889C>T	10.37:g.11505038G>A	ENSP00000476462:p.Pro630Leu		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.P653L	ENST00000609104.1	37	c.1958	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882783	0.91740	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.19250	2.16;2.2	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000005	T	0.48223	0.1488	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.33369	-0.9871	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	630;647	Q92738;Q92738-2	US6NL_HUMAN;.	L	630;647;630	ENSP00000277575:P647L;ENSP00000368539:P630L	ENSP00000277575:P647L	P	-	2	0	USP6NL	11545044	1.000000	0.71417	0.087000	0.20705	0.023000	0.10783	7.708000	0.84633	2.873000	0.98535	0.563000	0.77884	CCC	USP6NL	-	NULL	ENSG00000148429		0.512	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3	-	0	106	0	G	NM_014688		11505038	-1	tier1	-	no_errors	ENST00000379237	ensembl	human	known	74_37	missense	25.00	57	19	SNP	0.987	A	A	11505038	G	A	11505038	3	1	174	1	0	0	0	0	1	0	0	0	17136	1232	43	3	601	3	USP6NL	10	11505038	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	3718797	11505038	124029709	100	43624											
CUBN	8029	genome.wustl.edu	37	chr10	16878337	16878337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataaaacactggcacagcCgaagcatttctgccacagaa	16	6	8	11	1	1	1	0	0	1	1	1	3	1	1	2	1	4	2	2	1	5	2	rs147563157		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr10:16878337C>T	ENST00000377833.4	-	63	10142	c.10077G>A	c.(10075-10077)tcG>tcA	p.S3359S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3359	CUB 25. {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.A3360S(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)	CTGGCACAGCCGAAGCATTTC	0.393													C|||	1	0.000199681	0	0	5008	,	,		17910	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)											72	72	72					10																	16878337		2203	4300	6503	SO:0001819	synonymous_variant	0			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.10077G>A	10.37:g.16878337C>T			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.S3359	ENST00000377833.4	37	c.10077	CCDS7113.1	10																																																																																			CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1		0	95	0	C	NM_001081		16878337	-1			no_errors	ENST00000377833	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.000	T	T	16878337	C	T	16878337	2	4	174	1	0	0	0	0	0	0	0	1	4060	639	23	1		1	CUBN	10	16878337	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	5373299	16878337	118656410	101	43625											
MLLT10	8028	genome.wustl.edu	37	chr10	22015215	22015215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcagtcaggcaccatctCatatgtatggcaatagatca	12	11	7	11	0	4	1	4	0	2	1	6	1	4	1	1	2	0	3	1	2	4	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr10:22015215C>T	ENST00000307729.7	+	15	2099	c.1921C>T	c.(1921-1923)Cat>Tat	p.H641Y	MLLT10_ENST00000377059.3_Missense_Mutation_p.H641Y|MLLT10_ENST00000446906.2_Missense_Mutation_p.H641Y|MLLT10_ENST00000377072.3_Missense_Mutation_p.H657Y			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	641	DNA-binding.				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						GGCACCATCTCATATGTATGG	0.303			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													174	189	184					10																	22015215		2203	4300	6503	SO:0001583	missense	0			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.1921C>T	10.37:g.22015215C>T	ENSP00000307411:p.His641Tyr		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.H641Y	ENST00000307729.7	37	c.1921	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459869	0.63401	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	5.66	5.66	0.87406	.	0.096556	0.64402	D	0.000001	D	0.95784	0.8628	M	0.71036	2.16	0.58432	D	0.999995	D;D;P;D	0.62365	0.991;0.985;0.818;0.985	P;P;B;P	0.59056	0.851;0.714;0.135;0.714	D	0.95993	0.8987	10	0.87932	D	0	.	17.9301	0.88994	0.0:1.0:0.0:0.0	.	336;641;641;657	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	Y	657;641;641;476;641;300;299	ENSP00000366272:H657Y;ENSP00000401406:H641Y;ENSP00000307411:H641Y;ENSP00000366258:H641Y	ENSP00000307411:H641Y	H	+	1	0	MLLT10	22055221	1.000000	0.71417	0.716000	0.30569	0.827000	0.46813	6.009000	0.70745	2.655000	0.90218	0.650000	0.86243	CAT	MLLT10	-	NULL	ENSG00000078403		0.303	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	-	0	58	0	C			22015215	1	tier1	-	no_errors	ENST00000307729	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.966	T	T	22015215	C	T	22015215	3	4	174	1	0	0	0	0	1	0	0	0	9664	826	29	3	2027	3	MLLT10	10	22015215	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	5136878	22015215	113519532	102	43626											
STAMBPL1	57559	genome.wustl.edu	37	chr10	90672913	90672913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gcatcagagattgatagaggCagaaaggaagcggattgctc	14	7	14	6	1	1	4	1	1	0	3	2	7	1	6	0	3	2	3	0	3	3	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr10:90672913C>A	ENST00000371926.3	+	6	1434	c.476C>A	c.(475-477)gCa>gAa	p.A159E	STAMBPL1_ENST00000371927.3_Missense_Mutation_p.A159E|STAMBPL1_ENST00000371922.1_5'UTR|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.A159E	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	159						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTGATAGAGGCAGAAAGGAAG	0.433																																																	0													67	74	71					10																	90672913		2203	4300	6503	SO:0001583	missense	0			AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.476C>A	10.37:g.90672913C>A	ENSP00000360994:p.Ala159Glu		B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.A159E	ENST00000371926.3	37	c.476	CCDS7391.1	10	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463250	0.26248	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924	T;T;T	0.20598	2.06;2.06;2.06	5.98	5.98	0.97165	.	0.068555	0.64402	D	0.000018	T	0.14184	0.0343	L	0.29908	0.895	0.80722	D	1	B;B	0.32829	0.036;0.386	B;B	0.24269	0.016;0.052	T	0.04579	-1.0941	10	0.02654	T	1	-2.6416	19.0085	0.92863	0.0:1.0:0.0:0.0	.	159;159	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	E	159	ENSP00000360994:A159E;ENSP00000360995:A159E;ENSP00000360992:A159E	ENSP00000360992:A159E	A	+	2	0	STAMBPL1	90662893	0.868000	0.29978	0.972000	0.41901	0.992000	0.81027	1.657000	0.37366	2.834000	0.97654	0.655000	0.94253	GCA	STAMBPL1	-	NULL	ENSG00000138134		0.433	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBPL1	HGNC	protein_coding	OTTHUMT00000049283.1	-	0	49	0	C	NM_020799		90672913	1	tier1	-	no_errors	ENST00000371927	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.959	A	A	90672913	C	A	90672913	3	1	174	1	0	0	0	0	1	0	0	0	15298	710	25	3	494	3	STAMBPL1	10	90672913	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	68657698	90672913	44861834	103	43627											
ACTA2	59	genome.wustl.edu	37	chr10	90699272	90699272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgttgcctaccgatgaagGatggctggaacagggtctct	8	12	13	8	1	1	1	0	1	1	0	2	4	1	3	2	4	3	2	2	4	3	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr10:90699272G>T	ENST00000458208.1	-	7	1274	c.800C>A	c.(799-801)tCc>tAc	p.S267Y	ACTA2_ENST00000224784.6_Missense_Mutation_p.S267Y|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2_ENST00000480297.1_5'Flank	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	267					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)		ACCGATGAAGGATGGCTGGAA	0.522																																																	0													120	112	115					10																	90699272		2203	4300	6503	SO:0001583	missense	0			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.800C>A	10.37:g.90699272G>T	ENSP00000402373:p.Ser267Tyr		B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.S267Y	ENST00000458208.1	37	c.800	CCDS7392.1	10	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786079	0.70337	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.97976	-4.64;-4.64	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99061	0.9678	M	0.93016	3.37	0.80722	D	1	P	0.45126	0.851	D	0.64237	0.923	D	0.99056	1.0829	10	0.87932	D	0	.	19.2285	0.93827	0.0:0.0:1.0:0.0	.	267	P62736	ACTA_HUMAN	Y	267;267;222	ENSP00000224784:S267Y;ENSP00000402373:S267Y	ENSP00000224784:S267Y	S	-	2	0	ACTA2	90689252	1.000000	0.71417	0.981000	0.43875	0.893000	0.52053	9.869000	0.99810	2.890000	0.99128	0.655000	0.94253	TCC	ACTA2	-	pfam_Actin-related,smart_Actin-related	ENSG00000107796		0.522	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1		0	33	0	G	NM_001613		90699272	-1			no_errors	ENST00000224784	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	90699272	G	T	90699272	3	4	174	1	0	0	0	0	1	0	0	0	192	1174	41	3	345	3	ACTA2	10	90699272	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	26359	90699272	44835475	104	43628											
GSTO1	9446	genome.wustl.edu	37	chr10	106022789	106022789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaataaagaagactatgCtggcctaaaagaagaatttc	19	8	7	7	0	0	4	0	0	0	4	1	4	0	4	2	1	1	1	2	1	10	4	rs4925	byFrequency	TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr10:106022789C>T	ENST00000369713.5	+	4	613	c.419C>T	c.(418-420)gCt>gTt	p.A140V	GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Intron|GSTO1_ENST00000539281.1_Missense_Mutation_p.A112V	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	140	GST C-terminal.		A -> D (in allele GSTO1*C; no effect on protein stability; dbSNP:rs4925). {ECO:0000269|PubMed:12618591, ECO:0000269|PubMed:12928150}.		cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|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)|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)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)	p.A140D(1)		large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	GAAGACTATGCTGGCCTAAAA	0.353																																																	1	Substitution - Missense(1)	stomach(1)	GRCh37	CM061795	GSTO1	M	rs4925						88	85	86					10																	106022789		2203	4300	6503	SO:0001583	missense	0			AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.419C>T	10.37:g.106022789C>T	ENSP00000358727:p.Ala140Val		D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega	p.A140V	ENST00000369713.5	37	c.419	CCDS7555.1	10	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476652	0.44044	.	.	ENSG00000148834	ENST00000539281;ENST00000369713;ENST00000445155	T;T;T	0.14893	2.47;2.47;2.47	4.83	3.93	0.45458	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.523772	0.23569	N	0.046768	T	0.11793	0.0287	N	0.24115	0.695	0.19300	N	0.999971	B	0.27380	0.177	B	0.23275	0.045	T	0.18209	-1.0344	10	0.46703	T	0.11	-0.2439	11.8844	0.52594	0.0:0.915:0.0:0.085	.	140	P78417	GSTO1_HUMAN	V	112;140;112	ENSP00000441488:A112V;ENSP00000358727:A140V;ENSP00000406708:A112V	ENSP00000358727:A140V	A	+	2	0	GSTO1	106012779	0.016000	0.18221	0.046000	0.18839	0.099000	0.18886	0.831000	0.27476	1.389000	0.46526	0.655000	0.94253	GCT	GSTO1	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	ENSG00000148834		0.353	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTO1	HGNC	protein_coding	OTTHUMT00000050193.1		0	61	0	C	NM_004832		106022789	1			no_errors	ENST00000369713	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.350	T	T	106022789	C	T	106022789	3	4	174	1	0	0	0	0	1	0	0	0	6869	797	28	3	433	3	GSTO1	10	106022789	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	15323517	106022789	29511958	105	43629											
OR52K1	390036	genome.wustl.edu	37	chr11	4510699	4510699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	catggctgtggtaaggctggCgtgtggggacactagcttca	7	10	16	8	1	1	0	1	0	0	0	1	1	1	1	0	6	1	4	0	6	2	3	rs570619154		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:4510699C>T	ENST00000307632.3	+	1	591	c.569C>T	c.(568-570)gCg>gTg	p.A190V		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A190V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTAAGGCTGGCGTGTGGGGAC	0.502													C|||	1	0.000199681	0	0	5008	,	,		24785	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	endometrium(1)											372	281	312					11																	4510699		2201	4298	6499	SO:0001583	missense	0			AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"GPCR / Class A : Olfactory receptors"	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.569C>T	11.37:g.4510699C>T	ENSP00000302422:p.Ala190Val		B9EH54|Q6IFK5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A190V	ENST00000307632.3	37	c.569	CCDS31352.1	11	.	.	.	.	.	.	.	.	.	.	C	8.177	0.792953	0.16327	.	.	ENSG00000196778	ENST00000307632	T	0.00183	8.6	4.63	2.76	0.32466	GPCR, rhodopsin-like superfamily (1);	0.136582	0.33127	N	0.005250	T	0.00178	0.0005	L	0.46741	1.465	0.31795	N	0.629186	B	0.24882	0.113	B	0.25614	0.062	T	0.08868	-1.0701	10	0.49607	T	0.09	.	8.727	0.34476	0.0:0.7464:0.0:0.2536	.	190	Q8NGK4	O52K1_HUMAN	V	190	ENSP00000302422:A190V	ENSP00000302422:A190V	A	+	2	0	OR52K1	4467275	0.922000	0.31269	0.902000	0.35471	0.040000	0.13550	1.995000	0.40767	0.683000	0.31428	-0.299000	0.09455	GCG	OR52K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000196778		0.502	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K1	HGNC	protein_coding	OTTHUMT00000385846.1		0	63	0	C	NM_001005171		4510699	1			no_errors	ENST00000307632	ensembl	human	known	74_37	missense	8.70	41	4	SNP	0.902	T	T	4510699	C	T	4510699	3	4	174	1	0	0	0	0	1	0	0	0	11162	768	27	1	571	1	OR52K1	11	4510699	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09		4510699	130495817	106	43630											
OR52N1	79473	genome.wustl.edu	37	chr11	5809409	5809409	+	Missense_Mutation	SNP	A	A	G	1	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	aggagattgtaatgcacaggAtatcaaagcccccaatcagc	15	7	9	10	0	2	1	2	0	0	1	2	3	2	2	2	2	3	2	2	2	4	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:5809409A>G	ENST00000317078.1	-	1	637	c.638T>C	c.(637-639)aTc>aCc	p.I213T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	213						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)		AATGCACAGGATATCAAAGCC	0.473																																																	0													141	126	131					11																	5809409		2201	4296	6497	SO:0001583	missense	0			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.638T>C	11.37:g.5809409A>G	ENSP00000322823:p.Ile213Thr		Q6IFF6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.I213T	ENST00000317078.1	37	c.638	CCDS31398.1	11	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619127	0.46736	.	.	ENSG00000181001	ENST00000317078	T	0.37584	1.19	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.122950	0.36034	N	0.002831	T	0.51975	0.1706	M	0.64170	1.965	0.24168	N	0.995636	D	0.56521	0.976	D	0.66979	0.948	T	0.44982	-0.9292	10	0.72032	D	0.01	.	8.7631	0.34687	0.9101:0.0:0.0899:0.0	.	213	Q8NH53	O52N1_HUMAN	T	213	ENSP00000322823:I213T	ENSP00000322823:I213T	I	-	2	0	OR52N1	5765985	0.000000	0.05858	0.989000	0.46669	0.797000	0.45037	1.019000	0.30014	2.092000	0.63282	0.496000	0.49642	ATC	OR52N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181001		0.473	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N1	HGNC	protein_coding	OTTHUMT00000401142.1	-	0	33	0	A	NM_001001913		5809409	-1	tier1	-	no_errors	ENST00000317078	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.785	G	G	5809409	A	G	5809409	3	3	174	1	0	0	0	0	1	0	0	0	11166	333	12	4	327	4	OR52N1	11	5809409	Missense_Mutation	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09	1298710	5809409	129197107	107	43631											
OR52E6	390078	genome.wustl.edu	37	chr11	5862196	5862196	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctccaactggttagtgatctGtcttgaagaaaatcctcagc	11	12	8	10	0	3	3	1	2	2	1	5	3	5	3	2	1	2	1	2	1	5	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:5862196G>T	ENST00000329322.5	-	1	931	c.932C>A	c.(931-933)aCa>aAa	p.T311K	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.T315K	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAGTGATCTGTCTTGAAGAA	0.453																																																	0													82	79	80					11																	5862196		1944	4176	6120	SO:0001583	missense	0			AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.932C>A	11.37:g.5862196G>T	ENSP00000328878:p.Thr311Lys		Q6IFF8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T315K	ENST00000329322.5	37	c.944	CCDS53597.1	11	.	.	.	.	.	.	.	.	.	.	G	0.187	-1.056441	0.01965	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00003	9.84;9.84	2.6	0.00239	0.14050	.	1.326690	0.05593	N	0.574989	T	0.00039	0.0001	N	0.00760	-1.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07481	-1.0770	10	0.02654	T	1	.	8.0057	0.30323	0.0:0.0:0.3399:0.6601	.	311	Q96RD3	O52E6_HUMAN	K	311;315	ENSP00000328878:T311K;ENSP00000369279:T315K	ENSP00000328878:T311K	T	-	2	0	OR52E6	5818772	0.750000	0.28316	0.000000	0.03702	0.638000	0.38207	-0.144000	0.10280	-0.135000	0.11495	0.551000	0.68910	ACA	OR52E6	-	NULL	ENSG00000205409		0.453	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E6	HGNC	protein_coding	OTTHUMT00000401144.1	-	0	54	0	G	NM_001005167		5862196	-1	tier1	-	no_errors	ENST00000379946	ensembl	human	known	74_37	missense	58.62	12	17	SNP	0.000	T	T	5862196	G	T	5862196	3	4	174	1	0	0	0	0	1	0	0	0	11156	1377	48	3	11	3	OR52E6	11	5862196	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	52787	5862196	129144320	108	43632											
OR10A2	341276	genome.wustl.edu	37	chr11	6891244	6891244	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttccttggctgtgccactCagatgtatttcttcttcttc	4	18	6	13	0	4	1	1	0	3	1	6	1	5	1	3	1	1	2	3	1	1	7			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:6891244C>T	ENST00000307322.4	+	1	321	c.259C>T	c.(259-261)Cag>Tag	p.Q87*		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, 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)			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)		CTGTGCCACTCAGATGTATTT	0.517																																																	0													103	103	103					11																	6891244		2201	4296	6497	SO:0001587	stop_gained	0			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.259C>T	11.37:g.6891244C>T	ENSP00000303862:p.Gln87*		B2RNL9|Q6IFG9	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q87*	ENST00000307322.4	37	c.259	CCDS31415.1	11	.	.	.	.	.	.	.	.	.	.	c	19.56	3.850018	0.71603	.	.	ENSG00000170790	ENST00000307322	.	.	.	4.51	4.51	0.55191	.	0.000000	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.206	0.73180	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000303862:Q87X	Q	+	1	0	OR10A2	6847820	1.000000	0.71417	0.984000	0.44739	0.582000	0.36321	4.706000	0.61845	2.514000	0.84764	0.650000	0.86243	CAG	OR10A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000170790		0.517	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A2	HGNC	protein_coding	OTTHUMT00000385984.1	-	0	43	0	C	NM_001004460		6891244	1	tier1	-	no_errors	ENST00000307322	ensembl	human	known	74_37	nonsense	27.50	29	11	SNP	1.000	T	T	6891244	C	T	6891244	4	4	174	1	0	0	0	0	0	1	0	0	10929	827	29	3	261	3	OR10A2	11	6891244	Nonsense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	1029048	6891244	128115272	109	43633											
BDNF	627	genome.wustl.edu	37	chr11	27679606	27679606	+	Frame_Shift_Del	DEL	T	T	-																															ggccttttgatacagggaccTtttcaaggactgtgaccgtc																										TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:27679606delT	ENST00000525528.1	-	1	1599	c.506delA	c.(505-507)aagfs	p.K169fs	BDNF_ENST00000395986.2_Frame_Shift_Del_p.K184fs|BDNF_ENST00000530861.1_Frame_Shift_Del_p.K169fs|BDNF_ENST00000395978.3_Frame_Shift_Del_p.K169fs|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000438929.1_Frame_Shift_Del_p.K251fs|BDNF_ENST00000418212.1_Frame_Shift_Del_p.K169fs|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000532997.1_Frame_Shift_Del_p.K169fs|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000439476.2_Frame_Shift_Del_p.K169fs|BDNF_ENST00000395983.3_Frame_Shift_Del_p.K169fs|BDNF_ENST00000395981.3_Frame_Shift_Del_p.K169fs|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533131.1_Frame_Shift_Del_p.K169fs|BDNF_ENST00000533246.1_Frame_Shift_Del_p.K169fs|BDNF_ENST00000395980.2_Frame_Shift_Del_p.K169fs|BDNF_ENST00000314915.6_Frame_Shift_Del_p.K177fs|BDNF_ENST00000356660.4_Frame_Shift_Del_p.K169fs|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000525950.1_Frame_Shift_Del_p.K169fs|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000420794.1_Frame_Shift_Del_p.K169fs	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	169					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						TACAGGGACCTTTTCAAGGAC	0.512																																																	0													203	199	200					11																	27679606		2202	4299	6501	SO:0001589	frameshift_variant	0			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.506delA	11.37:g.27679606delT	ENSP00000437138:p.Lys169fs		A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Frame_Shift_Del	DEL	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel	p.K251fs	ENST00000525528.1	37	c.752	CCDS7866.1	11																																																																																			BDNF	-	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor	ENSG00000176697		0.512	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BDNF	HGNC	protein_coding	OTTHUMT00000388135.1		0	39	0	T	NM_170735		27679606	-1	tier1		no_errors	ENST00000438929	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-	-	27679606	T	-	27679606	7	5	174	1	0	1	0	1	0	0	0	0	1395	1609	56	0	241	0	BDNF	11	27679606	Frame_Shift_Del	DEL	T	TCGA-VR-AA7B-01A-31D-A403-09	20788362	27679606	107326910	110	43634											
ACCS	84680	genome.wustl.edu	37	chr11	44089204	44089204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccttcctcaaaaggacttCagggctcccaccacctgtct	9	9	6	17	0	3	0	2	0	1	0	5	1	5	1	5	2	0	1	5	2	2	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:44089204C>T	ENST00000263776.8	+	2	461	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ACCS_ENST00000432284.2_Silent_p.F9F|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	9					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						AAAAGGACTTCAGGGCTCCCA	0.537																																					Esophageal Squamous(158;148 1889 8077 23160 41213)												0													79	81	80					11																	44089204		2203	4300	6503	SO:0001819	synonymous_variant	0			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.27C>T	11.37:g.44089204C>T			B4E219|Q8WUL4|Q96LX5	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.F9	ENST00000263776.8	37	c.27	CCDS7907.1	11																																																																																			ACCS	-	NULL	ENSG00000110455		0.537	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCS	HGNC	protein_coding	OTTHUMT00000389721.1	-	0	74	0	C	NM_032592		44089204	1	tier1	-	no_errors	ENST00000263776	ensembl	human	known	74_37	silent	25.49	38	13	SNP	0.006	T	T	44089204	C	T	44089204	2	4	174	1	0	0	0	0	0	0	0	1	133	825	29	3		3	ACCS	11	44089204	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	16409598	44089204	90917312	111	43635											
OR5D16	390144	genome.wustl.edu	37	chr11	55606363	55606363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtggtagggaatcttGggatgatagtgatcatcaaa	12	12	13	4	0	4	2	3	2	1	0	4	4	4	4	0	3	0	1	0	3	4	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:55606363G>T	ENST00000378396.1	+	1	136	c.136G>T	c.(136-138)Ggg>Tgg	p.G46W		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	46						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)				AGGGAATCTTGGGATGATAGT	0.428																																																	0													153	147	149					11																	55606363		2201	4296	6497	SO:0001583	missense	0			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.136G>T	11.37:g.55606363G>T	ENSP00000367649:p.Gly46Trp		Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G46W	ENST00000378396.1	37	c.136	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	13.63	2.295516	0.40594	.	.	ENSG00000205029	ENST00000378396	T	0.01963	4.53	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14013	0.0339	M	0.91196	3.185	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10823	-1.0613	9	0.87932	D	0	-17.8881	6.3006	0.21111	0.1035:0.1903:0.7061:0.0	.	46	Q8NGK9	OR5DG_HUMAN	W	46	ENSP00000367649:G46W	ENSP00000367649:G46W	G	+	1	0	OR5D16	55362939	0.000000	0.05858	0.090000	0.20809	0.979000	0.70002	-1.137000	0.03219	2.021000	0.59480	0.530000	0.56133	GGG	OR5D16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000205029		0.428	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	-	0	92	0	G	NM_001005496		55606363	1	tier1	-	no_errors	ENST00000378396	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.001	T	T	55606363	G	T	55606363	3	4	174	1	0	0	0	0	1	0	0	0	11195	1348	47	3	138	3	OR5D16	11	55606363	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	11517159	55606363	79400153	112	43636											
OR5B21	219968	genome.wustl.edu	37	chr11	58275221	58275221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctacataccgctgcatggcGatcataggccatggaggcca	10	7	11	13	2	1	0	1	0	0	0	1	2	1	1	4	4	3	2	4	4	3	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:58275221G>A	ENST00000360374.2	-	1	357	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTGCATGGCGATCATAGGCC	0.537																																																	0													126	94	105					11																	58275221		2201	4295	6496	SO:0001583	missense	0				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"GPCR / Class A : Olfactory receptors"	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.358C>T	11.37:g.58275221G>A	ENSP00000353537:p.Arg120Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R120C	ENST00000360374.2	37	c.358	CCDS31552.1	11	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510795	0.27036	.	.	ENSG00000198283	ENST00000360374	T	0.77358	-1.09	5.2	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.204155	0.24359	U	0.039214	T	0.76485	0.3994	M	0.85945	2.785	0.45378	D	0.998363	P	0.46277	0.875	B	0.37304	0.246	T	0.78288	-0.2262	10	0.72032	D	0.01	-5.2516	10.4243	0.44369	0.1591:0.0:0.8409:0.0	.	120	A6NL26	OR5BL_HUMAN	C	120	ENSP00000353537:R120C	ENSP00000353537:R120C	R	-	1	0	OR5B21	58031797	1.000000	0.71417	0.988000	0.46212	0.098000	0.18820	4.619000	0.61218	0.768000	0.33290	-0.150000	0.13652	CGC	OR5B21	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198283		0.537	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B21	HGNC	protein_coding	OTTHUMT00000394891.1	-	0	18	0	G	NM_001005218		58275221	-1	tier1	-	no_errors	ENST00000360374	ensembl	human	known	74_37	missense	29.41	12	5	SNP	1.000	A	A	58275221	G	A	58275221	3	1	174	1	0	0	0	0	1	0	0	0	11190	1058	37	1	573	1	OR5B21	11	58275221	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	2668858	58275221	76731295	113	43637											
ZFP91	80829	genome.wustl.edu	37	chr11	58384873	58384873	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgccaatgcaggcgccctCatcaccagcacagatatctt	10	8	8	15	1	3	1	2	0	1	1	3	1	3	1	3	1	3	3	3	1	2	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:58384873C>T	ENST00000316059.6	+	11	1578	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	ZFP91-CNTF_ENST00000389919.4_Silent_p.L469L	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	469					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)				CAGGCGCCCTCATCACCAGCA	0.532																																																	0													57	52	54					11																	58384873		2201	4295	6496	SO:0001819	synonymous_variant	0			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.1407C>T	11.37:g.58384873C>T			A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L469	ENST00000316059.6	37	c.1407	CCDS31553.1	11																																																																																			ZFP91	-	NULL	ENSG00000186660		0.532	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP91	HGNC	protein_coding	OTTHUMT00000268674.1	-	0	15	0	C	NM_053023		58384873	1	tier1	-	no_errors	ENST00000316059	ensembl	human	known	74_37	silent	38.71	19	12	SNP	1.000	T	T	58384873	C	T	58384873	2	4	174	1	0	0	0	0	0	0	0	1	17703	813	29	3		3	ZFP91	11	58384873	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	109652	58384873	76621643	114	43638											
GLYAT	10249	genome.wustl.edu	37	chr11	58478152	58478152	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtttcagctgccatataGagaatgcgttgtgtttgttt	7	17	11	6	1	1	1	1	0	0	1	1	2	1	1	1	0	3	6	1	0	3	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:58478152G>C	ENST00000344743.3	-	5	540	c.399C>G	c.(397-399)ctC>ctG	p.L133L	GLYAT_ENST00000278400.3_Silent_p.L133L|GLYAT_ENST00000529732.1_Silent_p.L133L	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	133					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)	CTGCCATATAGAGAATGCGTT	0.423																																																	0													166	152	156					11																	58478152		2201	4295	6496	SO:0001819	synonymous_variant	0			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.399C>G	11.37:g.58478152G>C			O14833|Q96QK7	Silent	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	p.L133	ENST00000344743.3	37	c.399	CCDS7970.1	11																																																																																			GLYAT	-	pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase	ENSG00000149124		0.423	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYAT	HGNC	protein_coding	OTTHUMT00000394593.1	-	0	69	0	G			58478152	-1	tier1	-	no_errors	ENST00000344743	ensembl	human	known	74_37	silent	50.00	27	27	SNP	0.698	C	C	58478152	G	C	58478152	2	2	174	1	0	0	0	0	0	0	0	1	6505	929	33	5		5	GLYAT	11	58478152	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	93279	58478152	76528364	115	43639											
CARNS1	57571	genome.wustl.edu	37	chr11	67186432	67186432	+	Silent	SNP	A	A	G	1	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	ggccggggccgagaggcagcAgaactcgcccgtgacctgac	8	3	16	14	4	0	4	0	2	0	2	1	5	0	4	4	4	2	2	4	4	1	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:67186432A>G	ENST00000307823.3	+	4	653	c.201A>G	c.(199-201)gcA>gcG	p.A67A	CARNS1_ENST00000423745.2_Silent_p.A67A|CARNS1_ENST00000531040.1_Silent_p.A190A|CARNS1_ENST00000445895.2_Silent_p.A190A	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	67					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						GAGAGGCAGCAGAACTCGCCC	0.692																																																	0													11	14	13					11																	67186432		2052	4174	6226	SO:0001819	synonymous_variant	0				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.201A>G	11.37:g.67186432A>G			A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Silent	SNP	superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp	p.A190	ENST00000307823.3	37	c.570	CCDS44658.1	11																																																																																			CARNS1	-	NULL	ENSG00000172508		0.692	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1	-	0	37	0	A	NM_020811		67186432	1	tier1	-	no_errors	ENST00000445895	ensembl	human	known	74_37	silent	21.62	29	8	SNP	0.989	G	G	67186432	A	G	67186432	2	3	174	1	0	0	0	0	0	0	0	1	2663	175	7	4		4	CARNS1	11	67186432	Silent	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09	8708280	67186432	67820084	116	43640											
CARNS1	57571	genome.wustl.edu	37	chr11	67186451	67186451	+	Missense_Mutation	SNP	A	A	C	1	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	cagaactcgcccgtgacctgAcctgccccacaggagcttcg	8	6	10	17	3	0	3	0	2	0	1	2	4	0	4	5	1	3	1	5	1	1	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:67186451A>C	ENST00000307823.3	+	4	672	c.220A>C	c.(220-222)Acc>Ccc	p.T74P	CARNS1_ENST00000423745.2_Missense_Mutation_p.T74P|CARNS1_ENST00000531040.1_Missense_Mutation_p.T197P|CARNS1_ENST00000445895.2_Missense_Mutation_p.T197P	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	74					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						CCGTGACCTGACCTGCCCCAC	0.697																																																	0													9	12	11					11																	67186451		2070	4168	6238	SO:0001583	missense	0				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.220A>C	11.37:g.67186451A>C	ENSP00000308268:p.Thr74Pro		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp	p.T197P	ENST00000307823.3	37	c.589	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	A	11.14	1.549965	0.27652	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000539452;ENST00000423745;ENST00000445895	T;T;T;T	0.32515	1.45;1.49;1.49;1.49	4.06	1.52	0.23074	.	.	.	.	.	T	0.16385	0.0394	N	0.14661	0.345	0.28199	N	0.927428	P;B;P	0.35982	0.531;0.396;0.531	B;B;B	0.35353	0.201;0.099;0.201	T	0.14117	-1.0484	9	0.41790	T	0.15	.	6.2838	0.21021	0.3831:0.0:0.6169:0.0	.	197;74;213	F5H427;A5YM72;A5YM72-3	.;CRNS1_HUMAN;.	P	197;74;197;213;74;197	ENSP00000431670:T197P;ENSP00000308268:T74P;ENSP00000401519:T74P;ENSP00000389009:T197P	ENSP00000308268:T74P	T	+	1	0	CARNS1	66943027	0.998000	0.40836	0.998000	0.56505	0.971000	0.66376	0.765000	0.26546	0.177000	0.19895	0.459000	0.35465	ACC	CARNS1	-	NULL	ENSG00000172508		0.697	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1	-	0	34	0	A	NM_020811		67186451	1	tier1	-	no_errors	ENST00000445895	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	C	C	67186451	A	C	67186451	3	2	174	1	0	0	0	0	1	0	0	0	2663	275	10	4	603	4	CARNS1	11	67186451	Missense_Mutation	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09	19	67186451	67820065	117	43641											
SUV420H1	51111	genome.wustl.edu	37	chr11	67957421	67957421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgactgcatttttgccagcCttcagggtgtccttccccgt	4	14	9	14	2	1	0	1	0	0	0	4	1	3	0	5	1	3	1	5	1	0	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:67957421C>G	ENST00000304363.4	-	2	476	c.123G>C	c.(121-123)aaG>aaC	p.K41N	SUV420H1_ENST00000402185.2_Missense_Mutation_p.K41N|SUV420H1_ENST00000405515.1_Missense_Mutation_p.K41N|SUV420H1_ENST00000401547.2_Missense_Mutation_p.K41N|SUV420H1_ENST00000402789.1_Missense_Mutation_p.K41N	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	41					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						TTTTGCCAGCCTTCAGGGTGT	0.438																																																	0													361	316	331					11																	67957421		2200	4294	6494	SO:0001583	missense	0			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.123G>C	11.37:g.67957421C>G	ENSP00000305899:p.Lys41Asn		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.K41N	ENST00000304363.4	37	c.123	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423580	0.62733	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000434573	T;T;T;T;T;T	0.51817	1.01;1.01;1.01;1.01;0.69;1.01	5.87	5.87	0.94306	.	0.090894	0.64402	D	0.000001	T	0.32645	0.0836	N	0.08118	0	0.36963	D	0.893425	B;P;B;P	0.50066	0.009;0.503;0.241;0.931	B;B;B;B	0.44224	0.022;0.166;0.148;0.444	T	0.46275	-0.9203	10	0.87932	D	0	-31.295	13.4155	0.60966	0.0:0.9285:0.0:0.0715	.	41;41;41;41	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	N	41	ENSP00000305899:K41N;ENSP00000385965:K41N;ENSP00000385640:K41N;ENSP00000385005:K41N;ENSP00000384724:K41N;ENSP00000402921:K41N	ENSP00000305899:K41N	K	-	3	2	SUV420H1	67713997	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.455000	0.44988	2.784000	0.95788	0.585000	0.79938	AAG	SUV420H1	-	NULL	ENSG00000110066		0.438	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	-	0	67	0	C	NM_017635		67957421	-1	tier1	-	no_errors	ENST00000304363	ensembl	human	known	74_37	missense	52.66	80	89	SNP	1.000	G	G	67957421	C	G	67957421	3	3	174	1	0	0	0	0	1	0	0	0	15461	680	24	5	2582	5	SUV420H1	11	67957421	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	770970	67957421	67049095	118	43642											
CTTN	2017	genome.wustl.edu	37	chr11	70277335	70277335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaacgccccctgtgtcGcccgcacctcagccaaccga	9	4	8	20	5	1	0	1	0	0	0	2	1	1	0	6	0	3	2	6	0	2	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:70277335G>A	ENST00000301843.8	+	15	1421	c.1215G>A	c.(1213-1215)tcG>tcA	p.S405S	CTTN_ENST00000538675.1_Silent_p.S89S|CTTN_ENST00000346329.3_Silent_p.S368S|CTTN_ENST00000376561.3_Silent_p.S368S	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	405					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCCCTGTGTCGCCCGCACCTC	0.562																																																	0													115	128	123					11																	70277335		2200	4294	6494	SO:0001819	synonymous_variant	0			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1215G>A	11.37:g.70277335G>A			Q8N707|Q96H99	Silent	SNP	pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.S405	ENST00000301843.8	37	c.1215	CCDS41680.1	11																																																																																			CTTN	-	superfamily_SH3_domain,prints_p67phox	ENSG00000085733		0.562	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTN	HGNC	protein_coding	OTTHUMT00000259233.2		0	25	0	G	NM_138565		70277335	1			no_errors	ENST00000301843	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.938	A	A	70277335	G	A	70277335	2	1	174	1	0	0	0	0	0	0	0	1	4053	1074	38	1		1	CTTN	11	70277335	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	2319914	70277335	64729181	119	43643											
TAF1D	79101	genome.wustl.edu	37	chr11	93469859	93469859	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaaataagtcacttaCtgccaatttgatatcacatt	17	12	5	7	0	2	1	2	1	0	0	2	2	2	2	1	1	2	0	1	1	7	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:93469859C>G	ENST00000448108.2	-	5	1344		c.e5+1		SNORA40_ENST00000388090.1_RNA|MIR1304_ENST00000408243.1_RNA|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						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						AAGTCACTTACTGCCAATTTG	0.328																																																	0													111	114	113					11																	93469859		2200	4298	6498	SO:0001630	splice_region_variant	0				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.693+1G>C	11.37:g.93469859C>G			Q6I9Y6	Splice_Site	SNP	-	e4+1	ENST00000448108.2	37	c.693+1	CCDS8293.1	11	.	.	.	.	.	.	.	.	.	.	C	9.822	1.186148	0.21870	.	.	ENSG00000166012	ENST00000448108	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6494	0.51279	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAF1D	93109507	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	1.855000	0.39378	2.446000	0.82766	0.591000	0.81541	.	TAF1D	-	-	ENSG00000166012		0.328	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1D	HGNC	protein_coding	OTTHUMT00000394662.2	-	0	41	0	C	NM_024116	Intron	93469859	-1	tier1	-	no_errors	ENST00000323981	ensembl	human	known	74_37	splice_site	8.11	68	6	SNP	1.000	G	G	93469859	C	G	93469859	5	3	174	1	0	0	0	0	0	0	1	0	15569	579	20	5	150	5	TAF1D	11	93469859	Splice_Site	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	23192524	93469859	41536657	120	43644											
ZNF259	8882	genome.wustl.edu	37	chr11	116652907	116652907	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctaaactcctgtagtctCtccgtctgtccaggattgga	7	13	10	11	1	2	0	0	0	2	0	6	2	5	2	3	3	1	2	3	3	3	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:116652907C>G	ENST00000227322.3	-	12	1205	c.1146G>C	c.(1144-1146)gaG>gaC	p.E382D		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		382					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CCTGTAGTCTCTCCGTCTGTC	0.468																																																	0													118	97	104					11																	116652907		2201	4296	6497	SO:0001583	missense	0																														ENST00000227322.3:c.1146G>C	11.37:g.116652907C>G	ENSP00000227322:p.Glu382Asp		Q2TAA0	Missense_Mutation	SNP	pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1	p.E382D	ENST00000227322.3	37	c.1146	CCDS8375.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.093|9.093	1.002302|1.002302	0.19121|0.19121	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000429220	T|T	0.44482|0.44083	0.92|0.93	6.02|6.02	1.4|1.4	0.22301|0.22301	Zinc finger, ZPR1-type (3);|.	0.236003|0.236003	0.49305|0.49305	N|N	0.000152|0.000152	T|T	0.34629|0.34629	0.0904|0.0904	L|L	0.55743|0.55743	1.74|1.74	0.47511|0.47511	D|D	0.999443|0.999443	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.08472|0.08472	-1.0720|-1.0720	10|8	0.23891|0.13853	T|T	0.37|0.58	-7.993|-7.993	3.0479|3.0479	0.06160|0.06160	0.1147:0.4477:0.226:0.2116|0.1147:0.4477:0.226:0.2116	.|.	382|.	O75312|.	ZPR1_HUMAN|.	D|Q	382|309	ENSP00000227322:E382D|ENSP00000394495:E309Q	ENSP00000227322:E382D|ENSP00000394495:E309Q	E|E	-|-	3|1	2|0	ZNF259|ZNF259	116158117|116158117	0.999000|0.999000	0.42202|0.42202	0.935000|0.935000	0.37517|0.37517	0.228000|0.228000	0.25075|0.25075	0.786000|0.786000	0.26844|0.26844	0.395000|0.395000	0.25257|0.25257	0.655000|0.655000	0.94253|0.94253	GAG|GAG	ZNF259	-	pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1	ENSG00000109917		0.468	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF259	HGNC	protein_coding	OTTHUMT00000106283.2	-	0	63	0	C			116652907	-1	tier1	-	no_errors	ENST00000227322	ensembl	human	known	74_37	missense	32.61	31	15	SNP	0.986	G	G	116652907	C	G	116652907	3	3	174	1	0	0	0	0	1	0	0	0	17849	912	32	5	245	5	ZNF259	11	116652907	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	23183048	116652907	18353609	121	43645											
CBL	867	genome.wustl.edu	37	chr11	119170428	119170428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcccagaacaacatcgaGatggccaaaaacatcctccg	15	6	7	13	2	0	2	0	0	0	2	3	3	2	2	4	1	4	0	4	1	4	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr11:119170428G>C	ENST00000264033.4	+	16	3034	c.2658G>C	c.(2656-2658)gaG>gaC	p.E886D		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	886	Interaction with CD2AP.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		ACAACATCGAGATGGCCAAAA	0.512			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0													303	307	306					11																	119170428		2199	4295	6494	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2658G>C	11.37:g.119170428G>C	ENSP00000264033:p.Glu886Asp		A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.E886D	ENST00000264033.4	37	c.2658	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533861	0.27387	.	.	ENSG00000110395	ENST00000264033	T	0.38077	1.16	5.8	-1.93	0.07594	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.198963	0.51477	N	0.000084	T	0.15003	0.0362	N	0.11560	0.145	0.58432	D	0.999996	B	0.12630	0.006	B	0.17098	0.017	T	0.08513	-1.0718	10	0.22706	T	0.39	-17.976	7.297	0.26399	0.317:0.3268:0.3563:0.0	.	886	P22681	CBL_HUMAN	D	886	ENSP00000264033:E886D	ENSP00000264033:E886D	E	+	3	2	CBL	118675638	0.951000	0.32395	0.969000	0.41365	0.998000	0.95712	0.167000	0.16602	-0.343000	0.08351	0.655000	0.94253	GAG	CBL	-	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000110395		0.512	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4		0	55	0	G	NM_005188		119170428	1			no_errors	ENST00000264033	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.962	C	C	119170428	G	C	119170428	3	2	174	1	0	0	0	0	1	0	0	0	2707	933	33	5	2720	5	CBL	11	119170428	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	2517521	119170428	15836088	122	43646											
IQSEC3	440073	genome.wustl.edu	37	chr12	247635	247635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcctggcggccgagaaagCgctcatggagggctacggcc	8	4	17	12	4	1	1	1	0	0	1	1	4	1	2	3	5	3	2	3	5	2	1	rs370321433		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:247635C>T	ENST00000538872.1	+	4	1224	c.1106C>T	c.(1105-1107)gCg>gTg	p.A369V	RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A66V|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A369V			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	369					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)		GCCGAGAAAGCGCTCATGGAG	0.697																																																	0								C	VAL/ALA,VAL/ALA	0,4396		0,0,2198	16	17	16		1106,197	4.5	1	12		16	1,8587		0,1,4293	no	missense,missense	IQSEC3	NM_001170738.1,NM_015232.1	64,64	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	369/1183,66/760	247635	1,12983	2198	4294	6492	SO:0001583	missense	0			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.1106C>T	12.37:g.247635C>T	ENSP00000437554:p.Ala369Val		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.A369V	ENST00000538872.1	37	c.1106	CCDS53728.1	12	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006117	0.74932	0.0	1.16E-4	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.78246	-1.16;-1.16;-1.16	4.52	4.52	0.55395	.	0.317956	0.38217	N	0.001778	D	0.87759	0.6258	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.89418	0.3708	10	0.72032	D	0.01	.	17.4175	0.87505	0.0:1.0:0.0:0.0	.	369;66	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	V	369;369;66	ENSP00000437554:A369V;ENSP00000315662:A369V;ENSP00000372292:A66V	ENSP00000315662:A369V	A	+	2	0	IQSEC3	117896	0.998000	0.40836	0.999000	0.59377	0.273000	0.26683	5.012000	0.64017	2.341000	0.79615	0.462000	0.41574	GCG	IQSEC3	-	NULL	ENSG00000120645		0.697	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3	-	0	11	0	C	XM_495902		247635	1	tier1	-	no_errors	ENST00000326261	ensembl	human	known	74_37	missense	45.45	6	5	SNP	1.000	T	T	247635	C	T	247635	3	4	174	1	0	0	0	0	1	0	0	0	7846	768	27	1	1120	1	IQSEC3	12	247635	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09		247635	133604260	123	43647											
TAS2R30	259293	genome.wustl.edu	37	chr12	11286602	11286602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacattataagcagtaattCttacttctacactataaaaa	18	13	3	7	0	2	1	0	0	2	1	2	1	2	1	0	0	3	2	0	0	9	9			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:11286602C>T	ENST00000539585.1	-	1	641	c.242G>A	c.(241-243)aGa>aAa	p.R81K	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	81					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						AGCAGTAATTCTTACTTCTAC	0.433																																																	0													86	88	87					12																	11286602		2080	4255	6335	SO:0001583	missense	0			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.242G>A	12.37:g.11286602C>T	ENSP00000444736:p.Arg81Lys		Q645X7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.R81K	ENST00000539585.1	37	c.242	CCDS53750.1	12	.	.	.	.	.	.	.	.	.	.	-	8.957	0.969541	0.18659	.	.	ENSG00000256188	ENST00000539585	T	0.37058	1.22	2.33	-0.642	0.11486	.	.	.	.	.	T	0.23727	0.0574	L	0.27053	0.805	0.09310	N	1	B	0.31893	0.345	B	0.37346	0.247	T	0.29305	-1.0016	9	0.31617	T	0.26	.	4.7075	0.12856	0.0:0.442:0.0:0.558	.	81	P59541	T2R30_HUMAN	K	81	ENSP00000444736:R81K	ENSP00000444736:R81K	R	-	2	0	TAS2R30	11177869	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.511000	0.02260	-0.055000	0.13244	0.313000	0.20887	AGA	TAS2R30	-	pfam_TAS2_rcpt	ENSG00000256188		0.433	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R30	HGNC	protein_coding	OTTHUMT00000400238.1	-	0	97	0	C	NM_001097643		11286602	-1	tier1	-	no_errors	ENST00000539585	ensembl	human	known	74_37	missense	25.00	63	21	SNP	0.000	T	T	11286602	C	T	11286602	3	4	174	1	0	0	0	0	1	0	0	0	15620	913	32	3	721	3	TAS2R30	12	11286602	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	11038967	11286602	122565293	124	43648											
PRB2	653247	genome.wustl.edu	37	chr12	11546642	11546642	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	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	ttgaggctggttgcctccttGtgggggtggtccttgtggct	1	15	17	8	0	0	1	0	1	0	0	2	1	2	1	3	6	1	3	3	6	0	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:11546642G>A	ENST00000389362.4	-	3	405	c.370C>T	c.(370-372)Caa>Taa	p.Q124*	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	124	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)			TTGCCTCCTTGTGGGGGTGGT	0.617																																																	0													309	300	303					12																	11546642		2203	4299	6502	SO:0001587	stop_gained	0			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.370C>T	12.37:g.11546642G>A	ENSP00000374013:p.Gln124*		O00599|P02811|P04281	Nonsense_Mutation	SNP	NULL	p.Q124*	ENST00000389362.4	37	c.370	CCDS41757.2	12	.	.	.	.	.	.	.	.	.	.	.	11.80	1.747308	0.30955	.	.	ENSG00000121335	ENST00000389362	.	.	.	1.42	0.324	0.15898	.	1.664440	0.05213	U	0.507193	.	.	.	.	.	.	0.58432	A	0.999998	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	7.4232	0.27083	0.0:0.2739:0.7261:0.0	.	.	.	.	X	124	.	ENSP00000374013:Q124X	Q	-	1	0	PRB2	11437909	0.019000	0.18553	0.004000	0.12327	0.047000	0.14425	1.746000	0.38288	-0.152000	0.11156	0.186000	0.17326	CAA	PRB2	-	NULL	ENSG00000121335		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	-	0	237	0	G	NM_006248		11546642	-1	tier1	-	no_errors	ENST00000389362	ensembl	human	known	74_37	nonsense	8.75	145	14	SNP	0.318	A	A	11546642	G	A	11546642	4	1	174	1	0	0	0	0	0	1	0	0	12485	1386	48	3	884	3	PRB2	12	11546642	Nonsense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	260040	11546642	122305253	125	43649											
DERA	51071	genome.wustl.edu	37	chr12	16109917	16109917	+	Missense_Mutation	SNP	A	A	T	1	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	tgaatcacccggcagttctgAggcgtgcggaacaaatccag	11	7	12	11	3	2	2	1	2	1	0	3	3	3	3	2	3	2	2	2	3	3	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:16109917A>T	ENST00000428559.2	+	2	291	c.79A>T	c.(79-81)Agg>Tgg	p.R27W	DERA_ENST00000526530.1_De_novo_Start_InFrame|DERA_ENST00000532964.1_Missense_Mutation_p.R27W	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	27					deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	deoxyribose-phosphate aldolase activity (GO:0004139)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				GGCAGTTCTGAGGCGTGCGGA	0.428																																																	0													71	71	71					12																	16109917		1882	4099	5981	SO:0001583	missense	0			AF132960	CCDS44838.1, CCDS73451.1	12p12.3	2010-06-24	2010-06-24		ENSG00000023697	ENSG00000023697	4.1.2.4		24269	protein-coding gene	gene with protein product			"2-deoxyribose-5-phosphate aldolase homolog (C. elegans)"			12546782	Standard	XM_006719083		Approved	CGI-26, DEOC	uc001rde.3	Q9Y315	OTTHUMG00000165537	ENST00000428559.2:c.79A>T	12.37:g.16109917A>T	ENSP00000416583:p.Arg27Trp		Q53HN9|Q6PHW2	Missense_Mutation	SNP	pfam_DeoC/FbaB/lacD_aldolase,pirsf_DeoC,tigrfam_DeoC	p.R27W	ENST00000428559.2	37	c.79	CCDS44838.1	12	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002877	0.74932	.	.	ENSG00000023697	ENST00000428559;ENST00000531803;ENST00000532964	.	.	.	5.14	3.96	0.45880	.	0.151527	0.64402	D	0.000014	T	0.77039	0.4072	M	0.84511	2.7	0.80722	D	1	D	0.69078	0.997	P	0.61328	0.887	T	0.79671	-0.1706	9	0.87932	D	0	-20.8191	10.863	0.46837	0.8422:0.1578:0.0:0.0	.	27	Q9Y315	DEOC_HUMAN	W	27;48;27	.	ENSP00000416583:R27W	R	+	1	2	DERA	16001184	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	4.212000	0.58514	0.933000	0.37291	0.533000	0.62120	AGG	DERA	-	NULL	ENSG00000023697		0.428	DERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERA	HGNC	protein_coding	OTTHUMT00000384731.1	-	0	60	0	A	NM_015954		16109917	1	tier1	-	no_errors	ENST00000428559	ensembl	human	known	74_37	missense	22.22	35	10	SNP	0.983	T	T	16109917	A	T	16109917	3	4	174	1	0	0	0	0	1	0	0	0	4459	295	11	5	85	5	DERA	12	16109917	Missense_Mutation	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09	4563275	16109917	117741978	126	43650											
FGD4	121512	genome.wustl.edu	37	chr12	32772733	32772733	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggaatgaaaattgtagaGactcaaaatgaagaatatcc	19	9	9	4	0	1	4	1	2	0	2	2	7	2	5	1	1	0	1	1	1	9	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:32772733G>A	ENST00000427716.2	+	11	1864	c.1440G>A	c.(1438-1440)gaG>gaA	p.E480E	FGD4_ENST00000381025.3_Silent_p.E232E|FGD4_ENST00000531134.1_Silent_p.E565E|FGD4_ENST00000546442.1_Silent_p.E387E|FGD4_ENST00000525053.1_Silent_p.E592E|FGD4_ENST00000534526.2_Silent_p.E617E|FGD4_ENST00000266482.3_Silent_p.E232E	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	480	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					AAATTGTAGAGACTCAAAATG	0.433																																																	0													126	120	122					12																	32772733		2203	4300	6503	SO:0001819	synonymous_variant	0			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	ENST00000427716.2:c.1440G>A	12.37:g.32772733G>A			Q6ULS2|Q8TCP6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E480	ENST00000427716.2	37	c.1440	CCDS8727.1	12																																																																																			FGD4	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000139132		0.433	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	HGNC	protein_coding	OTTHUMT00000268017.1	-	0	63	0	G	NM_139241		32772733	1	tier1	-	no_errors	ENST00000427716	ensembl	human	known	74_37	silent	19.61	41	10	SNP	1.000	A	A	32772733	G	A	32772733	2	1	174	1	0	0	0	0	0	0	0	1	5857	933	33	3		3	FGD4	12	32772733	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	16662816	32772733	101079162	127	43651											
KIF21A	55605	genome.wustl.edu	37	chr12	39703442	39703442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcccacaccttaatataaGatgttgatacagtgaagacc	15	11	6	9	0	0	4	0	2	0	2	1	4	1	4	3	0	1	1	3	0	6	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:39703442G>C	ENST00000361418.5	-	33	4238	c.4223C>G	c.(4222-4224)tCt>tGt	p.S1408C	KIF21A_ENST00000541463.2_Missense_Mutation_p.S1355C|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1395C|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1371C|KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000395670.3_Missense_Mutation_p.S1409C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1408					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)				CTTAATATAAGATGTTGATAC	0.393																																																	0													92	87	89					12																	39703442		2203	4300	6503	SO:0001583	missense	0			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.4223C>G	12.37:g.39703442G>C	ENSP00000354878:p.Ser1408Cys		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.S1409C	ENST00000361418.5	37	c.4226	CCDS53776.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.90|17.90	3.501349|3.501349	0.64298|0.64298	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|D;D;D;T;D;T	.|0.81499	.|-1.5;-1.5;-1.5;2.19;-1.5;-0.14	5.39|5.39	3.56|3.56	0.40772|0.40772	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.248814	.|0.28677	.|N	.|0.014508	D|D	0.84334|0.84334	0.5449|0.5449	L|L	0.47016|0.47016	1.485|1.485	0.43255|0.43255	D|D	0.995187|0.995187	.|D;D;D;D;D;D	.|0.76494	.|0.988;0.988;0.994;0.994;0.992;0.999	.|P;P;P;P;P;D	.|0.66716	.|0.8;0.8;0.873;0.847;0.896;0.946	D|D	0.85289|0.85289	0.1066|0.1066	5|10	.|0.87932	.|D	.|0	.|.	11.5228|11.5228	0.50562|0.50562	0.1442:0.0:0.8558:0.0|0.1442:0.0:0.8558:0.0	.|.	.|1371;1355;1408;1395;1361;395	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.|.;.;KI21A_HUMAN;.;.;.	V|C	709|1395;1409;1361;395;389;1371;1408;1355	.|ENSP00000354851:S1395C;ENSP00000379029:S1409C;ENSP00000448792:S389C;ENSP00000445606:S1371C;ENSP00000354878:S1408C;ENSP00000438075:S1355C	.|ENSP00000344501:S1361C	L|S	-|-	1|2	0|0	KIF21A|KIF21A	37989709|37989709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	6.269000|6.269000	0.72558|0.72558	1.286000|1.286000	0.44565|0.44565	-0.127000|-0.127000	0.14921|0.14921	CTT|TCT	KIF21A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000139116		0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	-	0	53	0	G	NM_017641		39703442	-1	tier1	-	no_errors	ENST00000395670	ensembl	human	known	74_37	missense	52.50	19	21	SNP	1.000	C	C	39703442	G	C	39703442	3	2	174	1	0	0	0	0	1	0	0	0	8315	942	33	5	825	5	KIF21A	12	39703442	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	6930709	39703442	94148453	128	43652											
KIF21A	55605	genome.wustl.edu	37	chr12	39760156	39760156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagccttaatcttacaagtCcacagttgatagaaatgcct	15	11	6	9	0	1	2	0	1	1	1	2	2	2	2	3	0	3	1	3	0	6	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:39760156C>A	ENST00000361418.5	-	6	914	c.899G>T	c.(898-900)gGa>gTa	p.G300V	KIF21A_ENST00000541463.2_Missense_Mutation_p.G300V|KIF21A_ENST00000361961.3_Missense_Mutation_p.G300V|KIF21A_ENST00000544797.2_Missense_Mutation_p.G300V|KIF21A_ENST00000395670.3_Missense_Mutation_p.G300V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	300	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTTACAAGTCCACAGTTGAT	0.383																																																	0													113	113	113					12																	39760156		2203	4300	6503	SO:0001583	missense	0			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.899G>T	12.37:g.39760156C>A	ENSP00000354878:p.Gly300Val		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.G300V	ENST00000361418.5	37	c.899	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623681	0.87460	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	4.73	4.73	0.59995	Kinesin, motor domain (3);	0.000000	0.50627	D	0.000103	D	0.87370	0.6160	M	0.83852	2.665	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.997;1.0;0.988	D	0.89713	0.3913	10	0.87932	D	0	.	17.7244	0.88361	0.0:1.0:0.0:0.0	.	300;300;300;300;300	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	V	300;300;300;300;300;300;123	ENSP00000354851:G300V;ENSP00000379029:G300V;ENSP00000445606:G300V;ENSP00000354878:G300V;ENSP00000438075:G300V;ENSP00000449700:G123V	ENSP00000344501:G300V	G	-	2	0	KIF21A	38046423	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.285000	0.78660	2.183000	0.69458	0.655000	0.94253	GGA	KIF21A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000139116		0.383	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	-	0	57	0	C	NM_017641		39760156	-1	tier1	-	no_errors	ENST00000395670	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	A	A	39760156	C	A	39760156	3	1	174	1	0	0	0	0	1	0	0	0	8315	855	30	3	4257	3	KIF21A	12	39760156	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	56714	39760156	94091739	129	43653											
LRRK2	120892	genome.wustl.edu	37	chr12	40689290	40689290	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcttctctggcttctgaGagagaatatattacatcact	11	16	6	8	0	4	2	1	1	3	2	5	4	4	2	0	1	1	1	0	1	4	6	rs201042000		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:40689290G>A	ENST00000298910.7	+	23	2998	c.2940G>A	c.(2938-2940)gaG>gaA	p.E980E	LRRK2_ENST00000343742.2_Silent_p.E980E	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	980					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)				TGGCTTCTGAGAGAGAATATA	0.363																																																	0													73	73	73					12																	40689290		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2940G>A	12.37:g.40689290G>A			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.E980	ENST00000298910.7	37	c.2940	CCDS31774.1	12																																																																																			LRRK2	-	NULL	ENSG00000188906		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	61	0	G	XM_058513		40689290	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	silent	50.00	17	17	SNP	1.000	A	A	40689290	G	A	40689290	2	1	174	1	0	0	0	0	0	0	0	1	9068	933	33	3		3	LRRK2	12	40689290	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	929134	40689290	93162605	130	43654											
KCNH3	23416	genome.wustl.edu	37	chr12	49935472	49935472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaatgagaaaggggaggtgGctctcttcctagtctctcac	10	10	12	9	0	3	2	1	1	2	2	6	4	4	3	1	4	0	1	1	4	3	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:49935472G>A	ENST00000257981.6	+	3	630	c.370G>A	c.(370-372)Gct>Act	p.A124T	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	124	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				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						AGGGGAGGTGGCTCTCTTCCT	0.542																																																	0													185	196	192					12																	49935472		2203	4300	6503	SO:0001583	missense	0			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.370G>A	12.37:g.49935472G>A	ENSP00000257981:p.Ala124Thr		Q9UQ06	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.A124T	ENST00000257981.6	37	c.370	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.844219	0.97016	.	.	ENSG00000135519	ENST00000257981	D	0.99563	-6.17	5.1	5.1	0.69264	PAS-associated, C-terminal (1);PAS (1);PAS fold-4 (1);	0.000000	0.45361	D	0.000371	D	0.97766	0.9267	N	0.01576	-0.805	0.49483	D	0.999798	P	0.46621	0.881	P	0.50270	0.636	D	0.98514	1.0620	10	0.87932	D	0	.	16.4123	0.83722	0.0:0.0:1.0:0.0	.	124	Q9ULD8	KCNH3_HUMAN	T	124	ENSP00000257981:A124T	ENSP00000257981:A124T	A	+	1	0	KCNH3	48221739	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.646000	0.98474	2.825000	0.97269	0.655000	0.94253	GCT	KCNH3	-	pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_PAS,smart_PAC,pfscan_PAS-assoc_C,tigrfam_PAS	ENSG00000135519		0.542	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2		0	49	0	G	NM_012284		49935472	1			no_errors	ENST00000257981	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	A	A	49935472	G	A	49935472	3	1	174	1	0	0	0	0	1	0	0	0	8060	1203	42	3	380	3	KCNH3	12	49935472	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	9246182	49935472	83916423	131	43655											
METAP2	10988	genome.wustl.edu	37	chr12	95906601	95906601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaagtatatgcaattgaaAcctttggtagtacaggaaaa	17	10	10	4	0	0	2	0	1	0	1	0	4	0	3	1	2	3	4	1	2	9	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:95906601A>G	ENST00000323666.5	+	10	1322	c.1093A>G	c.(1093-1095)Acc>Gcc	p.T365A	METAP2_ENST00000546753.1_Missense_Mutation_p.T342A|METAP2_ENST00000550777.1_Missense_Mutation_p.T329A|METAP2_ENST00000551840.1_Missense_Mutation_p.T364A|METAP2_ENST00000261220.9_Missense_Mutation_p.T342A	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						TGCAATTGAAACCTTTGGTAG	0.353																																																	0													140	123	129					12																	95906601		2203	4300	6503	SO:0001583	missense	0			U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"Peptidase M"	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.1093A>G	12.37:g.95906601A>G	ENSP00000325312:p.Thr365Ala			Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2	p.T365A	ENST00000323666.5	37	c.1093	CCDS9052.1	12	.	.	.	.	.	.	.	.	.	.	A	27.2	4.805591	0.90623	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.88	5.88	0.94601	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.92857	0.7728	H	0.98295	4.195	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.996;0.999;0.996;0.997	D;D;D;D;D	0.75020	0.985;0.975;0.984;0.975;0.985	D	0.95507	0.8582	10	0.87932	D	0	-11.0175	16.2961	0.82769	1.0:0.0:0.0:0.0	.	342;329;342;364;365	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	A	365;342;342;329;364	ENSP00000325312:T365A;ENSP00000448169:T342A;ENSP00000261220:T342A;ENSP00000448614:T329A;ENSP00000450063:T364A	ENSP00000261220:T342A	T	+	1	0	METAP2	94430732	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.250000	0.74265	0.454000	0.30748	ACC	METAP2	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2	ENSG00000111142		0.353	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METAP2	HGNC	protein_coding	OTTHUMT00000408296.1	-	0	75	0	A	NM_006838		95906601	1	tier1	-	no_errors	ENST00000323666	ensembl	human	known	74_37	missense	59.52	17	25	SNP	1.000	G	G	95906601	A	G	95906601	3	3	174	1	0	0	0	0	1	0	0	0	9525	43	2	4	1131	4	METAP2	12	95906601	Missense_Mutation	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09	45971129	95906601	37945294	132	43656											
WSCD2	9671	genome.wustl.edu	37	chr12	108618549	108618549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttccggggctgcttccgcaGgcccgacaacctttccctgg	4	9	12	16	3	0	0	0	0	0	0	3	1	3	0	5	4	2	4	5	4	1	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:108618549G>A	ENST00000332082.4	+	6	1534	c.716G>A	c.(715-717)aGg>aAg	p.R239K	WSCD2_ENST00000261400.3_Missense_Mutation_p.R239K|WSCD2_ENST00000547525.1_Missense_Mutation_p.R239K|WSCD2_ENST00000549903.1_Missense_Mutation_p.R239K			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	239	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGCTTCCGCAGGCCCGACAAC	0.537																																																	0													68	72	71					12																	108618549		1921	4135	6056	SO:0001583	missense	0				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.716G>A	12.37:g.108618549G>A	ENSP00000331933:p.Arg239Lys		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.R239K	ENST00000332082.4	37	c.716	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	G	1.657	-0.512389	0.04200	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.39	3.59	0.41128	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.094648	0.64402	N	0.000002	T	0.35566	0.0936	L	0.43152	1.355	0.37043	D	0.897227	B	0.30179	0.271	B	0.34652	0.187	T	0.18840	-1.0324	10	0.06099	T	0.92	-32.0901	9.3512	0.38140	0.2313:0.0:0.7687:0.0	.	239	Q2TBF2	WSCD2_HUMAN	K	239;239;86;239;239	ENSP00000448047:R239K;ENSP00000261400:R239K;ENSP00000446744:R86K;ENSP00000331933:R239K;ENSP00000447272:R239K	ENSP00000261400:R239K	R	+	2	0	WSCD2	107142679	0.604000	0.26932	0.917000	0.36280	0.298000	0.27526	1.039000	0.30266	0.855000	0.35359	-0.126000	0.14955	AGG	WSCD2	-	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	ENSG00000075035		0.537	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	-	0	16	0	G	NM_014653		108618549	1	tier1	-	no_errors	ENST00000261400	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.992	A	A	108618549	G	A	108618549	3	1	174	1	0	0	0	0	1	0	0	0	17456	1000	35	3	730	3	WSCD2	12	108618549	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	12711948	108618549	25233346	133	43657											
NOS1	4842	genome.wustl.edu	37	chr12	117655876	117655876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtcttttttgctctcttCaatgaaggcaatggactcag	8	15	10	8	0	4	1	2	1	2	0	5	2	4	2	0	3	1	2	0	3	3	4	rs201476356		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:117655876C>T	ENST00000338101.4	-	28	4370	c.4366G>A	c.(4366-4368)Gaa>Aaa	p.E1456K	NOS1_ENST00000317775.6_Missense_Mutation_p.E1422K|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.E1422K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTGCTCTCTTCAATGAAGGCA	0.517																																					Esophageal Squamous(162;1748 2599 51982 52956)												1	Substitution - Missense(1)	endometrium(1)											263	260	261					12																	117655876		1997	4170	6167	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4366G>A	12.37:g.117655876C>T	ENSP00000337459:p.Glu1456Lys			Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E1422K	ENST00000338101.4	37	c.4264	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478076	0.84747	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	T;T	0.01455	4.87;4.92	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.05777	0.0151	L	0.57536	1.79	0.80722	D	1	D	0.54964	0.969	P	0.52424	0.698	T	0.41502	-0.9505	10	0.45353	T	0.12	-27.9498	17.8415	0.88716	0.0:1.0:0.0:0.0	.	1422	P29475	NOS1_HUMAN	K	1317;1422;1456	ENSP00000320758:E1422K;ENSP00000337459:E1456K	ENSP00000320758:E1422K	E	-	1	0	NOS1	116140259	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.296000	0.78790	2.451000	0.82905	0.561000	0.74099	GAA	NOS1	-	pirsf_NOS_euk	ENSG00000089250		0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	-	0	38	0	C			117655876	-1	tier1	-	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	T	T	117655876	C	T	117655876	3	4	174	1	0	0	0	0	1	0	0	0	10580	835	29	3	48	3	NOS1	12	117655876	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	9037327	117655876	16196019	134	43658											
CCDC60	160777	genome.wustl.edu	37	chr12	119954500	119954500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatagaaaatgggatgcaaaGaaaagcacccaggtatgtgc	18	6	11	6	0	0	2	0	0	0	2	0	3	0	3	1	2	3	3	1	2	8	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:119954500G>C	ENST00000327554.2	+	8	1421	c.956G>C	c.(955-957)aGa>aCa	p.R319T	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	319										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)		GGGATGCAAAGAAAAGCACCC	0.448																																																	0													91	88	89					12																	119954500		2203	4300	6503	SO:0001583	missense	0			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.956G>C	12.37:g.119954500G>C	ENSP00000333374:p.Arg319Thr			Missense_Mutation	SNP	NULL	p.R319T	ENST00000327554.2	37	c.956	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	8.507	0.865538	0.17250	.	.	ENSG00000183273	ENST00000327554	T	0.22134	1.97	4.76	-3.88	0.04205	.	0.348573	0.23865	N	0.043802	T	0.14874	0.0359	L	0.47716	1.5	0.09310	N	0.999991	B	0.11235	0.004	B	0.10450	0.005	T	0.24333	-1.0163	9	.	.	.	-5.7263	11.2572	0.49060	0.3738:0.0:0.6262:0.0	.	319	Q8IWA6	CCD60_HUMAN	T	319	ENSP00000333374:R319T	.	R	+	2	0	CCDC60	118438883	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.441000	0.06879	-0.837000	0.04223	0.655000	0.94253	AGA	CCDC60	-	NULL	ENSG00000183273		0.448	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	-	0	55	0	G	NM_178499		119954500	1	tier1	-	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	C	C	119954500	G	C	119954500	3	2	174	1	0	0	0	0	1	0	0	0	2838	942	33	5	986	5	CCDC60	12	119954500	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	2298624	119954500	13897395	135	43659											
SPPL3	121665	genome.wustl.edu	37	chr12	121220483	121220483	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaagccaatggccagtGagaacccagatgaggacgag	15	4	14	8	1	0	4	0	3	0	3	0	8	0	5	3	2	2	0	3	2	3	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:121220483G>T	ENST00000353487.2	-	6	980	c.477C>A	c.(475-477)ctC>ctA	p.L159L		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	160						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AATGGCCAGTGAGAACCCAGA	0.418																																																	0													118	88	98					12																	121220483		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"intramembrane protease 2", "presenilin-like protein 4"	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.477C>A	12.37:g.121220483G>T			Q3MJ04|Q8TAU4|Q96DD9	Silent	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.L159	ENST00000353487.2	37	c.477	CCDS9208.1	12																																																																																			SPPL3	-	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	ENSG00000157837		0.418	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2	-	0	60	0	G	NM_139015		121220483	-1	tier1	-	no_errors	ENST00000353487	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	T	T	121220483	G	T	121220483	2	4	174	1	0	0	0	0	0	0	0	1	15137	1277	45	3		3	SPPL3	12	121220483	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	1265983	121220483	12631412	136	43660											
P2RX4	5025	genome.wustl.edu	37	chr12	121670443	121670443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacatcatccccactatGatcaacatcggctctggcct	9	12	6	14	1	3	2	2	2	1	0	5	2	4	2	3	2	1	1	3	2	2	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:121670443G>T	ENST00000337233.4	+	10	1316	c.1008G>T	c.(1006-1008)atG>atT	p.M336I	P2RX4_ENST00000543171.1_Missense_Mutation_p.M235I|P2RX4_ENST00000359949.7_Missense_Mutation_p.M352I|P2RX4_ENST00000541532.1_3'UTR	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	336					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)					TCCCCACTATGATCAACATCG	0.572																																																	0													157	155	155					12																	121670443		2203	4300	6503	SO:0001583	missense	0			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.1008G>T	12.37:g.121670443G>T	ENSP00000336607:p.Met336Ile		E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor	p.M336I	ENST00000337233.4	37	c.1008	CCDS9214.1	12	.	.	.	.	.	.	.	.	.	.	G	9.486	1.099501	0.20552	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000543171;ENST00000542067	T;T;T;T	0.03889	3.77;3.77;3.77;3.77	5.26	5.26	0.73747	.	0.076145	0.85682	D	0.000000	T	0.04497	0.0123	N	0.17474	0.49	0.40282	D	0.978408	B;B;B	0.23185	0.024;0.081;0.029	B;B;B	0.28991	0.058;0.097;0.097	T	0.47898	-0.9081	10	0.10902	T	0.67	-46.0476	17.8411	0.88715	0.0:0.0:1.0:0.0	.	309;352;336	F6RU17;E7EPF7;Q99571	.;.;P2RX4_HUMAN	I	336;352;235;309	ENSP00000336607:M336I;ENSP00000353032:M352I;ENSP00000438131:M235I;ENSP00000438329:M309I	ENSP00000336607:M336I	M	+	3	0	P2RX4	120154826	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.343000	0.44001	2.445000	0.82738	0.462000	0.41574	ATG	P2RX4	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000135124		0.572	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX4	HGNC	protein_coding	OTTHUMT00000402545.1	-	0	22	0	G	NM_175567		121670443	1	tier1	-	no_errors	ENST00000337233	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	121670443	G	T	121670443	3	4	174	1	0	0	0	0	1	0	0	0	11381	1290	45	3	1046	3	P2RX4	12	121670443	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	449960	121670443	12181452	137	43661											
GLT1D1	144423	genome.wustl.edu	37	chr12	129431943	129431943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctgcacgcggtggtgaaGaattgcttcgcggtggtgaa	8	10	16	7	4	1	3	0	2	1	1	2	4	1	3	0	4	2	2	0	4	3	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr12:129431943G>A	ENST00000442111.2	+	10	808	c.720G>A	c.(718-720)aaG>aaA	p.K240K	GLT1D1_ENST00000281703.6_Silent_p.K160K|GLT1D1_ENST00000542193.1_Silent_p.K157K|GLT1D1_ENST00000537468.1_Silent_p.K245K			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	240					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CGGTGGTGAAGAATTGCTTCG	0.478																																																	0													194	160	172					12																	129431943		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.720G>A	12.37:g.129431943G>A			Q86XG8	Silent	SNP	pfam_Glyco_trans_1	p.K240	ENST00000442111.2	37	c.720		12																																																																																			GLT1D1	-	pfam_Glyco_trans_1	ENSG00000151948		0.478	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	HGNC	protein_coding	OTTHUMT00000399740.1	-	0	39	0	G	NM_144669		129431943	1	tier1	-	no_errors	ENST00000442111	ensembl	human	known	74_37	silent	30.43	16	7	SNP	0.982	A	A	129431943	G	A	129431943	2	1	174	1	0	0	0	0	0	0	0	1	6491	933	33	3		3	GLT1D1	12	129431943	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	7761500	129431943	4419952	138	43662											
FLT3	2322	genome.wustl.edu	37	chr13	28622425	28622425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctcacctgtatccgttatCaagacccttttgctcacaag	9	13	6	13	1	3	1	3	0	1	1	5	1	4	1	3	0	1	3	3	0	4	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr13:28622425C>T	ENST00000241453.7	-	9	1273	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	FLT3_ENST00000537084.1_Missense_Mutation_p.D398N|FLT3_ENST00000380982.4_Missense_Mutation_p.D398N	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	398					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)	TATCCGTTATCAAGACCCTTT	0.403			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													176	169	172					13																	28622425		2203	4300	6503	SO:0001583	missense	0			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.1192G>A	13.37:g.28622425C>T	ENSP00000241453:p.Asp398Asn		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D398N	ENST00000241453.7	37	c.1192	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	1.519	-0.547465	0.04024	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.76709	-0.97;-1.04;-0.77	5.45	3.71	0.42584	Immunoglobulin-like fold (1);	0.610732	0.16067	N	0.231218	T	0.56202	0.1969	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	0.36187	-0.9758	10	0.15066	T	0.55	.	10.8284	0.46647	0.0:0.8508:0.0:0.1492	.	398;398	P36888-2;P36888	.;FLT3_HUMAN	N	398	ENSP00000241453:D398N;ENSP00000370369:D398N;ENSP00000438139:D398N	ENSP00000241453:D398N	D	-	1	0	FLT3	27520425	0.000000	0.05858	0.022000	0.16811	0.005000	0.04900	0.054000	0.14205	1.316000	0.45131	-0.448000	0.05591	GAT	FLT3	-	NULL	ENSG00000122025		0.403	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	-	0	97	0	C			28622425	-1	tier1	-	no_errors	ENST00000380982	ensembl	human	known	74_37	missense	17.20	77	16	SNP	0.045	T	T	28622425	C	T	28622425	3	4	174	1	0	0	0	0	1	0	0	0	5964	826	29	3	1853	3	FLT3	13	28622425	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09		28622425	86547453	139	43663											
COG6	57511	genome.wustl.edu	37	chr13	40239254	40239254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaaaggaacagactcaaGatttaatagtaaaaaccact	20	7	6	8	0	1	2	1	0	0	2	1	3	1	3	1	1	3	2	1	1	8	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr13:40239254G>A	ENST00000455146.3	+	4	441	c.391G>A	c.(391-393)Gat>Aat	p.D131N	MIR4305_ENST00000583252.1_RNA|COG6_ENST00000416691.1_Missense_Mutation_p.D131N	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	131					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACAGACTCAAGATTTAATAGT	0.274																																																	0													53	57	56					13																	40239254		2201	4293	6494	SO:0001583	missense	0			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.391G>A	13.37:g.40239254G>A	ENSP00000397441:p.Asp131Asn		Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	pfam_COG6	p.D131N	ENST00000455146.3	37	c.391	CCDS9370.1	13	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654631	0.67472	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000422759;ENST00000455146	T;T;T	0.56103	0.48;0.48;0.48	5.72	4.88	0.63580	.	0.088146	0.85682	D	0.000000	T	0.58892	0.2154	L	0.55103	1.725	0.80722	D	1	D;B	0.57257	0.979;0.339	P;B	0.55508	0.777;0.147	T	0.54977	-0.8212	10	0.19147	T	0.46	-10.1424	13.3081	0.60363	0.0764:0.0:0.9236:0.0	.	152;131	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	N	131;162;131;131	ENSP00000403733:D131N;ENSP00000412877:D131N;ENSP00000397441:D131N	ENSP00000255468:D162N	D	+	1	0	COG6	39137254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.945000	0.92985	1.434000	0.47414	0.591000	0.81541	GAT	COG6	-	pfam_COG6	ENSG00000133103		0.274	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COG6	HGNC	protein_coding	OTTHUMT00000044622.3	-	0	224	0	G			40239254	1	tier1	-	no_errors	ENST00000455146	ensembl	human	known	74_37	missense	35.08	124	67	SNP	1.000	A	A	40239254	G	A	40239254	3	1	174	1	0	0	0	0	1	0	0	0	3669	942	33	3	405	3	COG6	13	40239254	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	11616829	40239254	74930624	140	43664											
FOXO1	2308	genome.wustl.edu	37	chr13	41134632	41134632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagatcatcctgttcggtCataatgggtgagagtctccc	9	11	10	11	1	3	2	2	1	1	2	6	3	4	2	3	2	0	1	3	2	2	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr13:41134632C>T	ENST00000379561.5	-	2	1380	c.996G>A	c.(994-996)atG>atA	p.M332I	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	332	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)	p.M332I(2)	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)		CCTGTTCGGTCATAATGGGTG	0.473																																																	2	Substitution - Missense(2)	cervix(2)											152	135	141					13																	41134632		2203	4300	6503	SO:0001583	missense	0				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.996G>A	13.37:g.41134632C>T	ENSP00000368880:p.Met332Ile		O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.M332I	ENST00000379561.5	37	c.996	CCDS9371.1	13	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589106	0.46110	.	.	ENSG00000150907	ENST00000379561	D	0.93659	-3.26	5.6	5.6	0.85130	.	0.206974	0.56097	D	0.000026	D	0.88793	0.6533	N	0.19112	0.55	0.58432	D	0.999993	B;B	0.33171	0.4;0.003	B;B	0.33960	0.173;0.004	D	0.87051	0.2147	10	0.37606	T	0.19	-11.6204	18.6061	0.91266	0.0:1.0:0.0:0.0	.	306;332	F8TAD1;Q12778	.;FOXO1_HUMAN	I	332	ENSP00000368880:M332I	ENSP00000368880:M332I	M	-	3	0	FOXO1	40032632	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	5.641000	0.67881	2.653000	0.90120	0.563000	0.77884	ATG	FOXO1	-	NULL	ENSG00000150907		0.473	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO1	HGNC	protein_coding	OTTHUMT00000044634.3	-	0	37	0	C	NM_002015		41134632	-1	tier1	-	no_errors	ENST00000379561	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T	T	41134632	C	T	41134632	3	4	174	1	0	0	0	0	1	0	0	0	6047	826	29	3	975	3	FOXO1	13	41134632	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	895378	41134632	74035246	141	43665											
ZC3H13	23091	genome.wustl.edu	37	chr13	46538007	46538010	+	Frame_Shift_Del	DEL	TTTC	TTTC	-																															ttctaaaagtctctgacatgTttctttgactttggcaaaga																										TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	TTTC	TTTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr13:46538007_46538010delTTTC	ENST00000242848.4	-	17	4987_4990	c.4639_4642delGAAA	c.(4639-4644)gaaacafs	p.ET1547fs	ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.ET503fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.ET1548fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1547							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTGACATGTTTCTTTGACTTTG	0.382																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0																																										SO:0001589	frameshift_variant	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.4639_4642delGAAA	13.37:g.46538007_46538010delTTTC	ENSP00000242848:p.Glu1547fs		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	pfam_Znf_CCCH,smart_Znf_CCCH	p.E1547fs	ENST00000242848.4	37	c.4642_4639		13																																																																																			ZC3H13	-	NULL	ENSG00000123200		0.382	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1		0	102	0	TTTC	NM_015070		46538010	-1	tier1		no_errors	ENST00000242848	ensembl	human	known	74_37	frame_shift_del	18.75	65	15	DEL	1.000:1.000:1.000:1.000	-	-	46538010	TTTC	-	46538007	7	5	174	1	0	1	0	1	0	0	0	0	17613	1725	60	0	53	0	ZC3H13	13	46538007	Frame_Shift_Del	DEL	TTTC	TCGA-VR-AA7B-01A-31D-A403-09	5403375	46538007	68631871	142	43666											
CTAGE5	4253	genome.wustl.edu	37	chr14	39763208	39763208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gatactgtgtttctagatggCggatatttcaaaaaggatac	13	13	10	5	1	2	1	1	0	1	1	2	4	2	3	0	3	2	1	0	3	6	6	rs139644527		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr14:39763208C>T	ENST00000280083.3	+	7	814	c.500C>T	c.(499-501)gCg>gTg	p.A167V	CTAGE5_ENST00000396165.4_Missense_Mutation_p.A138V|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A172V|CTAGE5_ENST00000348007.3_Missense_Mutation_p.A167V|CTAGE5_ENST00000341502.5_Missense_Mutation_p.A167V|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A92V|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A155V|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.A702V|CTAGE5_ENST00000553352.1_Missense_Mutation_p.A138V|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A138V|CTAGE5_ENST00000557038.1_Missense_Mutation_p.A87V			O15320	CTGE5_HUMAN	CTAGE family, member 5	167					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)		TTCTAGATGGCGGATATTTCA	0.343													C|||	1	0.000199681	8e-04	0	5008	,	,		15098	0		0	False		,,,				2504	0																0								C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	5,4401	11.4+/-27.6	1,3,2199	114	122	119		500,464,500,413	-3.2	0	14	dbSNP_134	119	0,8592		0,0,4296	yes	missense,missense,missense,missense	CTAGE5	NM_005930.3,NM_203354.2,NM_203355.2,NM_203356.2	64,64,64,64	1,3,6495	TT,TC,CC		0.0,0.1135,0.0385	benign,benign,benign,benign	167/805,155/793,167/762,138/776	39763208	5,12993	2203	4296	6499	SO:0001583	missense	0			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.500C>T	14.37:g.39763208C>T	ENSP00000280083:p.Ala167Val		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	NULL	p.A172V	ENST00000280083.3	37	c.515	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	C	7.979	0.750849	0.15778	0.001135	0.0	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000555716;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T;T	0.78707	1.53;1.53;-1.2;1.53;-1.2;-1.2;1.53;-1.2;1.53;-1.2;-1.2	5.15	-3.18	0.05186	.	1.225580	0.06364	N	0.712236	T	0.65154	0.2664	L	0.41415	1.275	0.09310	N	1	B;B;B;B;B;B	0.21225	0.053;0.03;0.03;0.03;0.03;0.012	B;B;B;B;B;B	0.20955	0.026;0.026;0.032;0.026;0.02;0.016	T	0.48234	-0.9053	9	.	.	.	.	6.5551	0.22456	0.248:0.6084:0.0:0.1437	.	129;172;167;167;138;155	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	V	702;129;155;87;129;138;167;172;167;92;167;138	ENSP00000452252:A702V;ENSP00000452395:A129V;ENSP00000343897:A155V;ENSP00000450869:A87V;ENSP00000379468:A138V;ENSP00000339286:A167V;ENSP00000379462:A172V;ENSP00000280083:A167V;ENSP00000452562:A92V;ENSP00000343912:A167V;ENSP00000450449:A138V	.	A	+	2	0	CTAGE5;RP11-407N17.3	38832959	0.021000	0.18746	0.010000	0.14722	0.309000	0.27889	0.223000	0.17719	-0.326000	0.08564	0.455000	0.32223	GCG	CTAGE5	-	NULL	ENSG00000150527		0.343	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	-	0	108	0	C	NM_005930		39763208	1	tier1	rs139644527	no_errors	ENST00000396158	ensembl	human	known	74_37	missense	31.86	77	36	SNP	0.002	T	T	39763208	C	T	39763208	3	4	174	1	0	0	0	0	1	0	0	0	4003	768	27	1	557	1	CTAGE5	14	39763208	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09		39763208	67586332	143	43667											
AKAP5	9495	genome.wustl.edu	37	chr14	64935503	64935503	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacttaagattccctgcataAaattcccaagagggccaaaa	16	8	7	10	0	0	2	0	0	0	2	2	3	2	2	3	1	1	1	3	1	6	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr14:64935503A>G	ENST00000394718.4	+	2	769	c.391A>G	c.(391-393)Aaa>Gaa	p.K131E	ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.K131E|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	131	Essential to the intracellular anchoring function. {ECO:0000250}.				energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TCCCTGCATAAAATTCCCAAG	0.388																																																	0													102	115	110					14																	64935503		2203	4300	6503	SO:0001583	missense	0			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"A-kinase anchor proteins"	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.391A>G	14.37:g.64935503A>G	ENSP00000378207:p.Lys131Glu		A2RRB8	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif	p.K131E	ENST00000394718.4	37	c.391	CCDS9764.1	14	.	.	.	.	.	.	.	.	.	.	A	16.22	3.060430	0.55432	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.30182	1.54;1.54	5.86	2.14	0.27477	.	0.514323	0.18203	N	0.148446	T	0.17831	0.0428	N	0.24115	0.695	0.09310	N	1	B	0.32918	0.39	B	0.27380	0.079	T	0.11665	-1.0578	10	0.72032	D	0.01	.	7.9671	0.30104	0.5335:0.3959:0.0706:0.0	.	131	P24588	AKAP5_HUMAN	E	131	ENSP00000378207:K131E;ENSP00000315615:K131E	ENSP00000315615:K131E	K	+	1	0	AKAP5	64005256	0.971000	0.33674	0.526000	0.27913	0.800000	0.45204	1.484000	0.35508	0.113000	0.18004	-0.313000	0.08912	AAA	AKAP5	-	NULL	ENSG00000179841		0.388	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKAP5	HGNC	protein_coding	OTTHUMT00000268070.3	-	0	82	0	A			64935503	1	tier1	-	no_errors	ENST00000320636	ensembl	human	known	74_37	missense	14.46	71	12	SNP	0.139	G	G	64935503	A	G	64935503	3	3	174	1	0	0	0	0	1	0	0	0	454	15	1	4	393	4	AKAP5	14	64935503	Missense_Mutation	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09	25172295	64935503	42414037	144	43668											
TMEM90A	646658	genome.wustl.edu	37	chr14	74876117	74876117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgacattctctgcagCttggccaggtcctgtgggct	5	12	14	10	0	1	1	0	1	1	0	3	2	2	1	2	4	2	3	2	4	0	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr14:74876117C>A	ENST00000554823.1	-	1	392	c.331G>T	c.(331-333)Gct>Tct	p.A111S	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.A111S			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	111					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TTCTCTGCAGCTTGGCCAGGT	0.612																																																	0													74	77	76					14																	74876117		2024	4191	6215	SO:0001583	missense	0				CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.331G>T	14.37:g.74876117C>A	ENSP00000450439:p.Ala111Ser			Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.A111S	ENST00000554823.1	37	c.331	CCDS41970.1	14	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.568417	0.00133	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.95205	-3.64;-3.64	4.63	2.79	0.32731	.	0.629071	0.15524	N	0.257870	D	0.83321	0.5229	N	0.11427	0.14	0.09310	N	1	B	0.24258	0.1	B	0.15870	0.014	T	0.69468	-0.5137	10	0.02654	T	1	-0.0705	7.9996	0.30288	0.0:0.744:0.0:0.256	.	111	A6NDD5	SYN1L_HUMAN	S	111	ENSP00000331474:A111S;ENSP00000450439:A111S	ENSP00000331474:A111S	A	-	1	0	SYNDIG1L	73945870	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.181000	0.16880	0.558000	0.29135	-0.373000	0.07131	GCT	SYNDIG1L	-	NULL	ENSG00000183379		0.612	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYNDIG1L	HGNC	protein_coding	OTTHUMT00000412341.1	-	0	44	0	C	XM_938515		74876117	-1	tier1	-	no_errors	ENST00000331628	ensembl	human	known	74_37	missense	19.15	38	9	SNP	0.001	A	A	74876117	C	A	74876117	3	1	174	1	0	0	0	0	1	0	0	0	16265	797	28	3	397	3	TMEM90A	14	74876117	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	9940614	74876117	32473423	145	43669											
C14orf102	55051	genome.wustl.edu	37	chr14	90756756	90756756	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagaaaacaaagggttgaAaaaagtcaagggcttttcat	17	8	9	7	0	2	2	2	1	0	1	2	2	2	2	1	2	1	2	1	2	7	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr14:90756756A>T	ENST00000354366.3	-	10	2270	c.2038T>A	c.(2038-2040)Ttc>Atc	p.F680I	NRDE2_ENST00000357904.3_Missense_Mutation_p.F449I	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	680																	AAAGGGTTGAAAAAAGTCAAG	0.502																																																	0													47	50	49					14																	90756756		2203	4300	6503	SO:0001583	missense	0			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.2038T>A	14.37:g.90756756A>T	ENSP00000346335:p.Phe680Ile		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.F680I	ENST00000354366.3	37	c.2038	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	A	6.563	0.472240	0.12461	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.37915	1.17;1.17	5.91	-1.22	0.09494	.	0.555807	0.19792	N	0.105943	T	0.17408	0.0418	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.16748	-1.0392	10	0.19590	T	0.45	-1.7704	5.0492	0.14499	0.286:0.1105:0.4947:0.1088	.	680	Q9H7Z3	CN102_HUMAN	I	680;449	ENSP00000346335:F680I;ENSP00000350579:F449I	ENSP00000346335:F680I	F	-	1	0	C14orf102	89826509	0.001000	0.12720	0.000000	0.03702	0.064000	0.16182	0.302000	0.19192	-0.164000	0.10927	0.533000	0.62120	TTC	NRDE2	-	NULL	ENSG00000119720		0.502	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	-	0	53	0	A	NM_017970		90756756	-1	tier1	-	no_errors	ENST00000354366	ensembl	human	known	74_37	missense	20.27	59	15	SNP	0.000	T	T	90756756	A	T	90756756	3	4	174	1	0	0	0	0	1	0	0	0	1740	14	1	5	1476	5	C14orf102	14	90756756	Missense_Mutation	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09	15880639	90756756	16592784	146	43670											
SETD3	84193	genome.wustl.edu	37	chr14	99870582	99870582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcagtcatacagaatactCggagaaaagccaaaagctga	17	7	8	9	1	2	3	2	1	0	2	3	4	2	3	1	1	4	1	1	1	7	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr14:99870582C>T	ENST00000331768.5	-	11	1316	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	386					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)				ACAGAATACTCGGAGAAAAGC	0.388																																																	0													79	78	78					14																	99870582		2203	4300	6503	SO:0001583	missense	0			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.1157G>A	14.37:g.99870582C>T	ENSP00000327436:p.Arg386Gln		A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd	p.R386Q	ENST00000331768.5	37	c.1157	CCDS9951.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.734828	0.96865	.	.	ENSG00000183576	ENST00000331768	T	0.38722	1.12	5.39	5.39	0.77823	Rubisco LS methyltransferase, substrate-binding domain (3);	0.221848	0.39544	N	0.001336	T	0.67767	0.2928	M	0.88570	2.965	0.80722	D	1	D	0.76494	0.999	P	0.57776	0.827	T	0.75428	-0.3321	10	0.87932	D	0	-41.182	19.1841	0.93635	0.0:1.0:0.0:0.0	.	386	Q86TU7	SETD3_HUMAN	Q	386	ENSP00000327436:R386Q	ENSP00000327436:R386Q	R	-	2	0	SETD3	98940335	1.000000	0.71417	0.981000	0.43875	0.935000	0.57460	7.678000	0.84035	2.537000	0.85549	0.655000	0.94253	CGA	SETD3	-	pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd	ENSG00000183576		0.388	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD3	HGNC	protein_coding	OTTHUMT00000072339.3	-	0	62	0	C	NM_032233		99870582	-1	tier1	-	no_errors	ENST00000331768	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	T	T	99870582	C	T	99870582	3	4	174	1	0	0	0	0	1	0	0	0	14177	884	31	1	639	1	SETD3	14	99870582	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	9113826	99870582	7478958	147	43671											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102470942	102470942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaacacttcaagaagatGtttgctggagtttcgagcat	13	11	10	7	1	1	3	1	0	0	3	2	5	1	4	0	1	3	4	0	1	3	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr14:102470942G>T	ENST00000360184.4	+	24	5135	c.4971G>T	c.(4969-4971)atG>atT	p.M1657I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1657	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						TCAAGAAGATGTTTGCTGGAG	0.363																																																	0													107	101	103					14																	102470942		2203	4300	6503	SO:0001583	missense	0			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.4971G>T	14.37:g.102470942G>T	ENSP00000348965:p.Met1657Ile		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.M1657I	ENST00000360184.4	37	c.4971	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.178027	0.94846	.	.	ENSG00000197102	ENST00000360184	T	0.61158	0.13	5.73	5.73	0.89815	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.80082	0.4558	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80728	-0.1253	10	0.51188	T	0.08	.	19.9019	0.96988	0.0:0.0:1.0:0.0	.	1657	Q14204	DYHC1_HUMAN	I	1657	ENSP00000348965:M1657I	ENSP00000348965:M1657I	M	+	3	0	DYNC1H1	101540695	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.802000	0.99131	2.706000	0.92434	0.563000	0.77884	ATG	DYNC1H1	-	pfam_Dynein_heavy_dom-2,superfamily_Thioredoxin-like_fold	ENSG00000197102		0.363	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1		0	93	0	G	NM_001376		102470942	1			no_errors	ENST00000360184	ensembl	human	known	74_37	missense	5.05	94	5	SNP	1.000	T	T	102470942	G	T	102470942	3	4	174	1	0	0	0	0	1	0	0	0	4855	1377	48	3	5065	3	DYNC1H1	14	102470942	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	2600360	102470942	4878598	148	43672											
EIF3J	80208	genome.wustl.edu	37	chr15	44853291	44853291	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaccatgaaagatgatctgGcagattatggtggttatgat	12	12	11	6	0	1	5	0	3	1	2	1	5	1	5	2	3	0	2	2	3	3	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr15:44853291G>A	ENST00000261866.7	-	0	7774				EIF3J_ENST00000261868.5_Missense_Mutation_p.A241T|RP11-151N17.1_ENST00000558006.1_RNA|EIF3J_ENST00000424492.3_Missense_Mutation_p.A192T|EIF3J_ENST00000535391.1_Missense_Mutation_p.A187T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)						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)		AGATGATCTGGCAGATTATGG	0.388																																																	0													269	231	244					15																	44853291		2198	4298	6496	SO:0001628	intergenic_variant	0				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		15.37:g.44853291G>A			A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	pfam_eIF3j	p.A241T	ENST00000261866.7	37	c.721	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645575	0.47258	.	.	ENSG00000104131	ENST00000261868;ENST00000535391;ENST00000424492	T;T;T	0.45276	0.9;0.9;0.9	5.23	4.3	0.51218	.	0.065165	0.64402	D	0.000015	T	0.47021	0.1423	L	0.52759	1.655	0.40334	D	0.97896	P;P;P	0.51791	0.948;0.879;0.948	P;B;P	0.51918	0.684;0.402;0.684	T	0.39121	-0.9629	10	0.14252	T	0.57	.	16.094	0.81109	0.0:0.1343:0.8657:0.0	.	187;192;241	B4DUI3;F5H425;O75822	.;.;EIF3J_HUMAN	T	241;187;192	ENSP00000261868:A241T;ENSP00000440221:A187T;ENSP00000414548:A192T	ENSP00000261868:A241T	A	+	1	0	EIF3J	42640583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.709000	0.74665	1.307000	0.44944	0.561000	0.74099	GCA	EIF3J	-	pfam_eIF3j	ENSG00000104131		0.388	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF3J	HGNC	protein_coding	OTTHUMT00000253927.1		0	75	0	G			44853291	1			no_errors	ENST00000261868	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	44853291	G	A	44853291	1	1	174	0	1	0	0	0	0	0	0	0	5036	1203	42	3		3	EIF3J	15	44853291	IGR	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09		44853291	57678101	149	43673											
DMXL2	23312	genome.wustl.edu	37	chr15	51857295	51857295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctaaataccttgaggatcCcatgctaagttgtatgtcac	11	13	8	9	0	1	1	1	1	0	0	2	2	2	2	2	1	3	4	2	1	5	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr15:51857295C>G	ENST00000251076.5	-	4	641	c.354G>C	c.(352-354)tgG>tgC	p.W118C	DMXL2_ENST00000449909.3_Missense_Mutation_p.W118C|DMXL2_ENST00000543779.2_Missense_Mutation_p.W118C|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	118						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)		CTTGAGGATCCCATGCTAAGT	0.284																																																	0													31	31	31					15																	51857295		2195	4291	6486	SO:0001583	missense	0			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.354G>C	15.37:g.51857295C>G	ENSP00000251076:p.Trp118Cys		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W118C	ENST00000251076.5	37	c.354	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856071	0.71834	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.13778	2.56;2.56;2.56	4.9	4.9	0.64082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	M	0.82823	2.61	0.51482	D	0.999924	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.991	T	0.49466	-0.8937	10	0.87932	D	0	.	18.4422	0.90670	0.0:1.0:0.0:0.0	.	118;118;118	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	C	118	ENSP00000251076:W118C;ENSP00000441858:W118C;ENSP00000400855:W118C	ENSP00000251076:W118C	W	-	3	0	DMXL2	49644587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.430000	0.73391	2.419000	0.82065	0.655000	0.94253	TGG	DMXL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000104093		0.284	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	-	0	154	0	C	NM_015263		51857295	-1	tier1	-	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	20.92	121	32	SNP	1.000	G	G	51857295	C	G	51857295	3	3	174	1	0	0	0	0	1	0	0	0	4609	624	22	5	8919	5	DMXL2	15	51857295	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	7004004	51857295	50674097	150	43674											
UNC13C	440279	genome.wustl.edu	37	chr15	54307496	54307496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcttcccaaaatttggatCtacactgcagagggctaaat	13	10	8	10	0	1	1	0	0	1	1	2	2	2	2	1	2	3	3	1	2	5	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr15:54307496C>G	ENST00000260323.11	+	1	2396	c.2396C>G	c.(2395-2397)tCt>tGt	p.S799C	UNC13C_ENST00000537900.1_Missense_Mutation_p.S799C|UNC13C_ENST00000545554.1_Missense_Mutation_p.S799C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	799					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)		AAATTTGGATCTACACTGCAG	0.443																																																	0													83	78	79					15																	54307496		1918	4114	6032	SO:0001583	missense	0			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.2396C>G	15.37:g.54307496C>G	ENSP00000260323:p.Ser799Cys		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.S799C	ENST00000260323.11	37	c.2396	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553547	0.65425	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83250	-1.7;-1.69;-1.7	5.69	5.69	0.88448	.	.	.	.	.	D	0.87212	0.6121	L	0.29908	0.895	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	D	0.88426	0.3032	9	0.87932	D	0	.	18.7937	0.91985	0.0:1.0:0.0:0.0	.	799	Q8NB66	UN13C_HUMAN	C	799	ENSP00000260323:S799C;ENSP00000438156:S799C;ENSP00000442569:S799C	ENSP00000260323:S799C	S	+	2	0	UNC13C	52094788	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	5.673000	0.68109	2.681000	0.91329	0.650000	0.86243	TCT	UNC13C	-	NULL	ENSG00000137766		0.443	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	40	0	C	NM_173166		54307496	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	G	G	54307496	C	G	54307496	3	3	174	1	0	0	0	0	1	0	0	0	17035	913	32	5	2398	5	UNC13C	15	54307496	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	2450201	54307496	48223896	151	43675											
UNC13C	440279	genome.wustl.edu	37	chr15	54542505	54542505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	acacaattttgaggtctggaCggctaccacacccacctact	11	9	7	14	1	1	1	0	1	1	0	1	2	1	2	3	3	2	1	3	3	3	4	rs563857639		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr15:54542505C>T	ENST00000260323.11	+	7	3311	c.3311C>T	c.(3310-3312)aCg>aTg	p.T1104M	UNC13C_ENST00000537900.1_Missense_Mutation_p.T1102M|UNC13C_ENST00000545554.1_Missense_Mutation_p.T1104M	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1104					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)		GAGGTCTGGACGGCTACCACA	0.498													C|||	1	0.000199681	0	0	5008	,	,		18437	0		0	False		,,,				2504	0.001																0													113	107	109					15																	54542505		2106	4263	6369	SO:0001583	missense	0			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.3311C>T	15.37:g.54542505C>T	ENSP00000260323:p.Thr1104Met		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T1104M	ENST00000260323.11	37	c.3311	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709299	0.89018	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.93488	-3.23;-3.23;-3.23	5.56	5.56	0.83823	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.052260	0.85682	D	0.000000	D	0.96552	0.8875	M	0.89030	3	0.58432	D	0.999999	D	0.71674	0.998	P	0.55871	0.786	D	0.97095	0.9793	10	0.87932	D	0	.	18.5213	0.90954	0.0:1.0:0.0:0.0	.	1104	Q8NB66	UN13C_HUMAN	M	1104;1104;1102	ENSP00000260323:T1104M;ENSP00000438156:T1104M;ENSP00000442569:T1102M	ENSP00000260323:T1104M	T	+	2	0	UNC13C	52329797	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.800000	0.85949	2.626000	0.88956	0.650000	0.86243	ACG	UNC13C	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000137766		0.498	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	35	0	C	NM_173166		54542505	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	54542505	C	T	54542505	3	4	174	1	0	0	0	0	1	0	0	0	17035	536	19	1	3333	1	UNC13C	15	54542505	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	235009	54542505	47988887	152	43676											
UNC13C	440279	genome.wustl.edu	37	chr15	54614270	54614270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tacaggtttctgcctcagatCgatttgctgctaccaacttt	8	15	7	11	1	2	1	1	0	1	1	3	2	2	1	2	1	6	3	2	1	3	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr15:54614270C>G	ENST00000260323.11	+	13	4402	c.4402C>G	c.(4402-4404)Cga>Gga	p.R1468G	UNC13C_ENST00000537900.1_Missense_Mutation_p.R1466G|UNC13C_ENST00000545554.1_Missense_Mutation_p.R1468G	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1468					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)		TGCCTCAGATCGATTTGCTGC	0.388																																																	0													78	72	74					15																	54614270		1861	4079	5940	SO:0001583	missense	0			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.4402C>G	15.37:g.54614270C>G	ENSP00000260323:p.Arg1468Gly		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R1468G	ENST00000260323.11	37	c.4402	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957697	0.53400	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81078	-1.45;-1.45;-1.45	5.7	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.89719	0.6796	M	0.83483	2.645	0.58432	D	0.999997	P;D	0.89917	0.869;1.0	P;D	0.81914	0.756;0.995	D	0.90666	0.4594	10	0.56958	D	0.05	.	14.4317	0.67254	0.2658:0.7342:0.0:0.0	.	1468;1468	F5H090;Q8NB66	.;UN13C_HUMAN	G	1468;1468;1466	ENSP00000260323:R1468G;ENSP00000438156:R1468G;ENSP00000442569:R1466G	ENSP00000260323:R1468G	R	+	1	2	UNC13C	52401562	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	3.181000	0.50903	1.378000	0.46305	0.650000	0.86243	CGA	UNC13C	-	NULL	ENSG00000137766		0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	76	0	C	NM_173166		54614270	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	13.73	44	7	SNP	1.000	G	G	54614270	C	G	54614270	3	3	174	1	0	0	0	0	1	0	0	0	17035	876	31	5	4448	5	UNC13C	15	54614270	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	71765	54614270	47917122	153	43677											
PTPLAD1	51495	genome.wustl.edu	37	chr15	65855215	65855215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtgcgattctgtatcttGggaaaaggcaagtaagacat	13	11	11	6	1	2	1	0	0	2	1	2	3	2	2	0	2	1	3	0	2	5	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr15:65855215G>C	ENST00000261875.5	+	6	691	c.525G>C	c.(523-525)ttG>ttC	p.L175F	PTPLAD1_ENST00000568793.1_Missense_Mutation_p.L150F|PTPLAD1_ENST00000566511.1_Missense_Mutation_p.L58F|PTPLAD1_ENST00000569894.1_Missense_Mutation_p.L58F|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.L213F|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.L58F|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.L58F|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.L120F	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	175					activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TCTGTATCTTGGGAAAAGGCA	0.383																																																	0													123	113	116					15																	65855215		1884	4103	5987	SO:0001583	missense	0				CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.525G>C	15.37:g.65855215G>C	ENSP00000261875:p.Leu175Phe		A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Missense_Mutation	SNP	pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.L175F	ENST00000261875.5	37	c.525	CCDS45282.1	15	.	.	.	.	.	.	.	.	.	.	G	2.254	-0.370972	0.05034	.	.	ENSG00000074696	ENST00000442729;ENST00000261875	T;T	0.10763	2.84;2.87	5.58	-2.03	0.07365	.	0.312424	0.30347	N	0.009824	T	0.05227	0.0139	L	0.38175	1.15	0.58432	D	0.999993	P;B	0.34934	0.476;0.075	B;B	0.31686	0.134;0.046	T	0.44937	-0.9295	10	0.09843	T	0.71	-14.4109	5.1291	0.14899	0.2503:0.0:0.3391:0.4105	.	120;175	B4DRF4;Q9P035	.;HACD3_HUMAN	F	120;175	ENSP00000392491:L120F;ENSP00000261875:L175F	ENSP00000261875:L175F	L	+	3	2	PTPLAD1	63642268	0.629000	0.27146	0.991000	0.47740	0.928000	0.56348	-0.158000	0.10070	-0.225000	0.09913	-0.218000	0.12543	TTG	PTPLAD1	-	NULL	ENSG00000074696		0.383	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLAD1	HGNC	protein_coding	OTTHUMT00000419739.1	-	0	122	0	G	NM_016395		65855215	1	tier1	-	no_errors	ENST00000261875	ensembl	human	known	74_37	missense	24.51	77	25	SNP	0.931	C	C	65855215	G	C	65855215	3	2	174	1	0	0	0	0	1	0	0	0	12818	1339	47	5	547	5	PTPLAD1	15	65855215	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	11240945	65855215	36676177	154	43678											
PTPLAD1	51495	genome.wustl.edu	37	chr15	65856552	65856552	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgtatatttttgcctataGagtccttttatgacacattc	11	18	5	7	0	0	2	0	1	0	1	2	2	1	2	2	0	1	1	2	0	6	9			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr15:65856552G>C	ENST00000261875.5	+	7	698		c.e7-1		PTPLAD1_ENST00000568793.1_Splice_Site|PTPLAD1_ENST00000566511.1_Splice_Site|PTPLAD1_ENST00000569894.1_Splice_Site|PTPLAD1_ENST00000565299.1_Splice_Site|PTPLAD1_ENST00000562901.1_Splice_Site|PTPLAD1_ENST00000566074.1_Splice_Site|PTPLAD1_ENST00000442729.2_Splice_Site	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1						activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TTTGCCTATAGAGTCCTTTTA	0.368																																																	0													190	178	182					15																	65856552		1867	4105	5972	SO:0001630	splice_region_variant	0				CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.533-1G>C	15.37:g.65856552G>C			A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Splice_Site	SNP	-	e7-1	ENST00000261875.5	37	c.533-1	CCDS45282.1	15	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420728	0.62622	.	.	ENSG00000074696	ENST00000442729;ENST00000261875	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPLAD1	63643605	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	9.473000	0.97714	2.793000	0.96121	0.655000	0.94253	.	PTPLAD1	-	-	ENSG00000074696		0.368	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLAD1	HGNC	protein_coding	OTTHUMT00000419739.1	-	0	47	0	G	NM_016395	Intron	65856552	1	tier1	-	no_errors	ENST00000261875	ensembl	human	known	74_37	splice_site	16.13	26	5	SNP	1.000	C	C	65856552	G	C	65856552	5	2	174	1	0	0	0	0	0	0	1	0	12818	956	33	5	558	5	PTPLAD1	15	65856552	Splice_Site	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	1337	65856552	36674840	155	43679											
TMED3	23423	genome.wustl.edu	37	chr15	79614407	79614407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgggaggcccaggacCgggcccgagcagaagacctt	8	3	17	13	3	0	2	0	0	0	2	0	5	0	4	4	5	2	2	4	5	1	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr15:79614407C>T	ENST00000299705.5	+	3	693	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	TMED3_ENST00000536821.1_Intron|TMED3_ENST00000424155.2_Intron|TMED3_ENST00000558562.1_3'UTR	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	169					protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						GGCCCAGGACCGGGCCCGAGC	0.577																																																	0													71	68	69					15																	79614407		2196	4293	6489	SO:0001583	missense	0			BC022232	CCDS10310.1, CCDS73768.1	15q24-q25	2011-02-09	2005-08-26	2005-01-07	ENSG00000166557	ENSG00000166557			28889	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 22", "transmembrane emp24 domain containing 3"	C15orf22		12975309	Standard	XM_005254263		Approved	p24B	uc002beu.3	Q9Y3Q3	OTTHUMG00000144170	ENST00000299705.5:c.505C>T	15.37:g.79614407C>T	ENSP00000299705:p.Arg169Trp		A8K069|B4DN05|Q2T9F8	Missense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.R169W	ENST00000299705.5	37	c.505	CCDS10310.1	15	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575735	0.86645	.	.	ENSG00000166557	ENST00000299705	T	0.25749	1.78	5.05	3.15	0.36227	GOLD (1);	0.067835	0.64402	D	0.000010	T	0.62853	0.2462	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73685	-0.3905	10	0.87932	D	0	-32.2228	12.1788	0.54199	0.3098:0.6902:0.0:0.0	.	169	Q9Y3Q3	TMED3_HUMAN	W	169	ENSP00000299705:R169W	ENSP00000299705:R169W	R	+	1	2	TMED3	77401462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.421000	0.59848	0.696000	0.31696	0.591000	0.81541	CGG	TMED3	-	pfam_GOLD	ENSG00000166557		0.577	TMED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED3	HGNC	protein_coding	OTTHUMT00000291369.1	-	0	58	0	C	NM_007364		79614407	1	tier1	-	no_errors	ENST00000299705	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	T	T	79614407	C	T	79614407	3	4	174	1	0	0	0	0	1	0	0	0	16052	643	23	1	515	1	TMED3	15	79614407	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	13757855	79614407	22916985	156	43680											
ASB7	140460	genome.wustl.edu	37	chr15	101170231	101170231	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcgaccatgtttggatttCttacaagaagtcacaagtat	13	13	8	7	1	2	1	1	0	1	1	3	3	2	2	1	1	1	2	1	1	5	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr15:101170231C>T	ENST00000332783.7	+	5	1586	c.801C>T	c.(799-801)ttC>ttT	p.F267F	ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Silent_p.F267F	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	267	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			GTTTGGATTTCTTACAAGAAG	0.338																																																	0													34	36	35					15																	101170231		2203	4298	6501	SO:0001819	synonymous_variant	0				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.801C>T	15.37:g.101170231C>T			A8K1E5|Q6GSJ6|Q7Z4S3	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.F267	ENST00000332783.7	37	c.801	CCDS10387.1	15																																																																																			ASB7	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000183475		0.338	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB7	HGNC	protein_coding	OTTHUMT00000313617.1	-	0	123	0	C	NM_024708		101170231	1	tier1	-	no_errors	ENST00000332783	ensembl	human	known	74_37	silent	21.32	107	29	SNP	1.000	T	T	101170231	C	T	101170231	2	4	174	1	0	0	0	0	0	0	0	1	1029	912	32	3		3	ASB7	15	101170231	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	21555824	101170231	1361161	157	43681											
HS3ST6	64711	genome.wustl.edu	37	chr16	1961956	1961956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gtacaggccgatgcggacggCgctccaggctgtgtccacgg	6	6	16	13	5	0	0	0	0	0	0	2	2	2	1	3	5	2	3	3	5	1	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:1961956C>T	ENST00000293937.3	-	2	663	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	HS3ST6_ENST00000454677.2_Missense_Mutation_p.A239T|HS3ST6_ENST00000443547.1_Missense_Mutation_p.A191T			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	222					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						ATGCGGACGGCGCTCCAGGCT	0.706																																																	0													20	26	24					16																	1961956		2174	4282	6456	SO:0001583	missense	0					16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.664G>A	16.37:g.1961956C>T	ENSP00000293937:p.Ala222Thr		Q96RX7	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.A222T	ENST00000293937.3	37	c.664		16	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115780	0.77323	.	.	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	T;T	0.55760	0.5;0.5	4.84	4.84	0.62591	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82528	-0.0412	10	0.72032	D	0.01	.	16.9861	0.86340	0.0:1.0:0.0:0.0	.	222	Q96QI5	HS3S6_HUMAN	T	222;191;261	ENSP00000293937:A222T;ENSP00000390354:A191T	ENSP00000293937:A222T	A	-	1	0	HS3ST6	1901957	1.000000	0.71417	0.991000	0.47740	0.413000	0.31143	7.619000	0.83057	2.252000	0.74401	0.505000	0.49811	GCC	HS3ST6	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000162040		0.706	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	HS3ST6	HGNC	protein_coding		-	0	87	0	C	NM_001009606		1961956	-1	tier1	-	no_errors	ENST00000293937	ensembl	human	known	74_37	missense	24.56	43	14	SNP	1.000	T	T	1961956	C	T	1961956	3	4	174	1	0	0	0	0	1	0	0	0	7396	768	27	1	368	1	HS3ST6	16	1961956	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09		1961956	88392797	158	43682											
PRSS27	83886	genome.wustl.edu	37	chr16	2763677	2763677	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcacagcgagtttctgcagGatccgcggttcgggcaggag	7	7	17	10	4	1	0	0	0	1	0	3	3	2	2	1	5	2	5	1	5	0	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:2763677G>T	ENST00000302641.3	-	5	585	c.531C>A	c.(529-531)atC>atA	p.I177I	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	177	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.I177M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GTTTCTGCAGGATCCGCGGTT	0.582																																																	1	Substitution - Missense(1)	breast(1)											145	109	121					16																	2763677		2198	4300	6498	SO:0001819	synonymous_variant	0			AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.531C>A	16.37:g.2763677G>T				Silent	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.I177	ENST00000302641.3	37	c.531	CCDS10476.1	16																																																																																			PRSS27	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000172382		0.582	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS27	HGNC	protein_coding	OTTHUMT00000250908.1		0	20	0	G	NM_031948		2763677	-1			no_errors	ENST00000302641	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.057	T	T	2763677	G	T	2763677	2	4	174	1	0	0	0	0	0	0	0	1	12663	1164	41	3		3	PRSS27	16	2763677	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	801721	2763677	87591076	159	43683											
SRRM2	23524	genome.wustl.edu	37	chr16	2816501	2816501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacatctccggtcacccGaaggagatctcgatctcgca	11	7	9	14	4	4	2	1	0	3	2	7	5	4	2	2	2	1	1	2	2	2	0	rs549557408		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:2816501G>T	ENST00000301740.8	+	11	6521	c.5972G>T	c.(5971-5973)cGa>cTa	p.R1991L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1991	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						CCGGTCACCCGAAGGAGATCT	0.567																																																	0													68	71	70					16																	2816501		2198	4300	6498	SO:0001583	missense	0			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.5972G>T	16.37:g.2816501G>T	ENSP00000301740:p.Arg1991Leu		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R1991L	ENST00000301740.8	37	c.5972	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	9.788	1.177259	0.21787	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.26373	1.74	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000029	T	0.22166	0.0534	N	0.08118	0	0.23669	N	0.997158	D	0.63880	0.993	P	0.54706	0.759	T	0.20306	-1.0279	10	0.11182	T	0.66	-6.9001	16.354	0.83228	0.0:0.0:1.0:0.0	.	1991	Q9UQ35	SRRM2_HUMAN	L	1991;1991;1243	ENSP00000301740:R1991L	ENSP00000301740:R1991L	R	+	2	0	SRRM2	2756502	0.174000	0.23070	0.647000	0.29507	0.778000	0.44026	3.451000	0.52964	2.466000	0.83321	0.650000	0.86243	CGA	SRRM2	-	NULL	ENSG00000167978		0.567	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1		0	33	0	G			2816501	1			no_errors	ENST00000301740	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.404	T	T	2816501	G	T	2816501	3	4	174	1	0	0	0	0	1	0	0	0	15216	1058	37	2	6010	2	SRRM2	16	2816501	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	52824	2816501	87538252	160	43684											
LITAF	9516	genome.wustl.edu	37	chr16	11643500	11643500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctggctgagtcctacaaaCgcttgtaggtgcccaggaga	9	9	13	10	1	1	2	0	1	1	1	2	3	2	2	2	3	3	3	2	3	3	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:11643500C>T	ENST00000571688.1	-	4	709	c.479G>A	c.(478-480)cGt>cAt	p.R160H	LITAF_ENST00000570904.1_Missense_Mutation_p.R160H|LITAF_ENST00000574763.1_Missense_Mutation_p.R160H|LITAF_ENST00000339430.5_Missense_Mutation_p.R160H|LITAF_ENST00000381810.3_Silent_p.A160A|LITAF_ENST00000571459.1_3'UTR|LITAF_ENST00000572255.1_Missense_Mutation_p.R67H|LITAF_ENST00000413364.2_3'UTR|LITAF_ENST00000576036.1_Missense_Mutation_p.R160H	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	160					aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cytokine production (GO:0001817)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						GTCCTACAAACGCTTGTAGGT	0.612																																																	0													42	39	40					16																	11643500		2197	4300	6497	SO:0001583	missense	0			AB034747	CCDS32386.1, CCDS45411.1	16p13.3-p12	2014-09-17							16841	protein-coding gene	gene with protein product		603795				9305847, 10200294	Standard	NM_004862		Approved	PIG7, SIMPLE, FLJ38636, TP53I7	uc002dbb.3	Q99732		ENST00000571688.1:c.479G>A	16.37:g.11643500C>T	ENSP00000459533:p.Arg160His		D3DUG1|G5E9K0|Q05DW0|Q9C0L6	Missense_Mutation	SNP	pfam_LITAF,smart_LITAF	p.R160H	ENST00000571688.1	37	c.479	CCDS32386.1	16	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305793	0.81247	.	.	ENSG00000189067	ENST00000339430	D	0.88741	-2.42	5.01	4.06	0.47325	LPS-induced tumor necrosis factor alpha factor (2);	.	.	.	.	D	0.93680	0.7981	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.93403	0.6762	9	0.51188	T	0.08	-10.0725	11.5521	0.50726	0.0:0.9121:0.0:0.0879	.	160	Q99732	LITAF_HUMAN	H	160	ENSP00000340118:R160H	ENSP00000340118:R160H	R	-	2	0	LITAF	11551001	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	5.757000	0.68766	1.246000	0.43901	-0.152000	0.13540	CGT	LITAF	-	pfam_LITAF,smart_LITAF	ENSG00000189067		0.612	LITAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LITAF	HGNC	protein_coding	OTTHUMT00000436794.2	-	0	40	0	C	NM_004862		11643500	-1	tier1	-	no_errors	ENST00000339430	ensembl	human	known	74_37	missense	40.00	18	12	SNP	1.000	T	T	11643500	C	T	11643500	3	4	174	1	0	0	0	0	1	0	0	0	8860	536	19	1	10	1	LITAF	16	11643500	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	8826999	11643500	78711253	161	43685											
RBBP6	5930	genome.wustl.edu	37	chr16	24581206	24581206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaaaaaagccaaagaggaGactccgaagactgacaatac	20	5	8	8	1	0	4	0	1	0	3	1	6	1	4	2	1	2	0	2	1	7	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:24581206G>A	ENST00000319715.4	+	17	3627	c.3195G>A	c.(3193-3195)gaG>gaA	p.E1065E	RBBP6_ENST00000348022.2_Silent_p.E1031E|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1065	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)		CCAAAGAGGAGACTCCGAAGA	0.398																																																	0													52	52	52					16																	24581206		2194	4300	6494	SO:0001819	synonymous_variant	0				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.3195G>A	16.37:g.24581206G>A			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.E1065	ENST00000319715.4	37	c.3195	CCDS10621.1	16																																																																																			RBBP6	-	NULL	ENSG00000122257		0.398	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	-	0	65	0	G	NM_006910		24581206	1	tier1	-	no_errors	ENST00000319715	ensembl	human	known	74_37	silent	43.33	34	26	SNP	1.000	A	A	24581206	G	A	24581206	2	1	174	1	0	0	0	0	0	0	0	1	13148	933	33	3		3	RBBP6	16	24581206	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	12937706	24581206	65773547	162	43686											
ATXN2L	11273	genome.wustl.edu	37	chr16	28845927	28845927	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctctggtggctgccacGccctattcttcctacatccc	4	11	7	19	2	2	0	0	0	2	0	4	0	4	0	6	2	2	1	6	2	2	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:28845927G>T	ENST00000336783.4	+	18	2513	c.2346G>T	c.(2344-2346)acG>acT	p.T782T	ATXN2L_ENST00000382686.4_Silent_p.T782T|ATXN2L_ENST00000570200.1_Silent_p.T782T|ATXN2L_ENST00000564304.1_Silent_p.T788T|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000325215.6_Silent_p.T782T|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Silent_p.T782T|ATXN2L_ENST00000340394.8_Silent_p.T782T	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	782					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGCTGCCACGCCCTATTCTT	0.682																																																	0													61	72	68					16																	28845927		2196	4298	6494	SO:0001819	synonymous_variant	0				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2346G>T	16.37:g.28845927G>T			A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.T782	ENST00000336783.4	37	c.2346	CCDS10641.1	16																																																																																			ATXN2L	-	NULL	ENSG00000168488		0.682	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1		0	47	0	G	NM_007245		28845927	1			no_errors	ENST00000395547	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.674	T	T	28845927	G	T	28845927	2	4	174	1	0	0	0	0	0	0	0	1	1213	1074	38	2		2	ATXN2L	16	28845927	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	4264721	28845927	61508826	163	43687											
SRCAP	10847	genome.wustl.edu	37	chr16	30749318	30749318	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagtgagagcaatggcctgGagctcccaccctcagcagca	10	6	12	13	0	1	2	1	2	0	1	2	4	2	3	3	2	4	4	3	2	1	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:30749318G>T	ENST00000262518.4	+	34	8342	c.7957G>T	c.(7957-7959)Gag>Tag	p.E2653*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2591*|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2495*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2653	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)			CAATGGCCTGGAGCTCCCACC	0.597																																																	0													70	61	64					16																	30749318		2197	4300	6497	SO:0001587	stop_gained	0			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.7957G>T	16.37:g.30749318G>T	ENSP00000262518:p.Glu2653*		B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.E2653*	ENST00000262518.4	37	c.7957	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	46	12.622410	0.99683	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	4.88	4.88	0.63580	.	0.532223	0.17144	N	0.185327	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-3.5506	13.3988	0.60870	0.0:0.0:1.0:0.0	.	.	.	.	X	2653;2591;2495	.	ENSP00000262518:E2653X	E	+	1	0	SRCAP	30656819	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.351000	0.52232	2.543000	0.85770	0.467000	0.42956	GAG	SRCAP	-	NULL	ENSG00000080603		0.597	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1		0	12	0	G	NM_006662		30749318	1			no_errors	ENST00000262518	ensembl	human	known	74_37	nonsense	50.00	7	7	SNP	0.999	T	T	30749318	G	T	30749318	4	4	174	1	0	0	0	0	0	1	0	0	15182	1175	41	3	8083	3	SRCAP	16	30749318	Nonsense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	1903391	30749318	59605435	164	43688											
PRSS36	146547	genome.wustl.edu	37	chr16	31151696	31151696	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgatagaggcagtcacaGattcgttgtgtcaagatgga	11	10	12	8	1	2	4	2	1	0	3	3	5	2	5	1	2	0	2	1	2	2	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:31151696G>C	ENST00000268281.4	-	14	2266	c.2208C>G	c.(2206-2208)atC>atG	p.I736M	PRSS36_ENST00000418068.2_Intron|PRSS36_ENST00000569305.1_Missense_Mutation_p.I731M	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	736	Peptidase S1 3. {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						GGCAGTCACAGATTCGTTGTG	0.597																																																	0													89	87	87					16																	31151696		2197	4300	6497	SO:0001583	missense	0			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.2208C>G	16.37:g.31151696G>C	ENSP00000268281:p.Ile736Met		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.I736M	ENST00000268281.4	37	c.2208	CCDS32436.1	16	.	.	.	.	.	.	.	.	.	.	G	7.556	0.663673	0.14710	.	.	ENSG00000178226	ENST00000268281	D	0.88431	-2.38	4.74	3.76	0.43208	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.79997	0.4543	N	0.20807	0.61	0.21740	N	0.999566	B;B	0.32010	0.351;0.351	B;B	0.30855	0.121;0.121	T	0.70494	-0.4856	9	0.42905	T	0.14	.	9.4025	0.38442	0.1059:0.0:0.8941:0.0	.	731;736	B7ZMK8;Q5K4E3	.;POLS2_HUMAN	M	736	ENSP00000268281:I736M	ENSP00000268281:I736M	I	-	3	3	PRSS36	31059197	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	1.266000	0.33039	2.339000	0.79563	0.555000	0.69702	ATC	PRSS36	-	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178226		0.597	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	-	0	77	0	G	NM_173502		31151696	-1	tier1	-	no_errors	ENST00000268281	ensembl	human	known	74_37	missense	30.77	36	16	SNP	0.999	C	C	31151696	G	C	31151696	3	2	174	1	0	0	0	0	1	0	0	0	12667	932	33	5	367	5	PRSS36	16	31151696	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	402378	31151696	59203057	165	43689											
RBL2	5934	genome.wustl.edu	37	chr16	53499461	53499461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggcatggaaaccagagtctCcactctgggaaaaaattaga	15	8	10	8	0	2	2	0	0	2	2	3	4	2	4	2	3	1	1	2	3	5	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:53499461C>T	ENST00000262133.6	+	13	1947	c.1810C>T	c.(1810-1812)Cca>Tca	p.P604S	RBL2_ENST00000544545.1_Missense_Mutation_p.P388S|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	604	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						ACCAGAGTCTCCACTCTGGGA	0.348																																																	0													66	71	70					16																	53499461		2198	4299	6497	SO:0001583	missense	0			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.1810C>T	16.37:g.53499461C>T	ENSP00000262133:p.Pro604Ser		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.P604S	ENST00000262133.6	37	c.1810	CCDS10748.1	16	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423637	0.43020	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.86956	-2.19;-2.19;-2.19	4.99	4.99	0.66335	Retinoblastoma-associated protein, A-box (1);Cyclin-like (1);	0.109663	0.64402	D	0.000007	D	0.88306	0.6401	L	0.41356	1.27	0.42261	D	0.992019	P;P;P;D	0.62365	0.626;0.932;0.537;0.991	B;P;B;P	0.59825	0.328;0.752;0.369;0.864	D	0.89065	0.3465	10	0.72032	D	0.01	-9.0982	11.6632	0.51358	0.1372:0.7304:0.1325:0.0	.	388;604;314;604	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	S	604;530;314;388	ENSP00000262133:P604S;ENSP00000443744:P530S;ENSP00000444685:P388S	ENSP00000262133:P604S	P	+	1	0	RBL2	52056962	0.970000	0.33590	1.000000	0.80357	0.977000	0.68977	2.517000	0.45529	2.463000	0.83235	0.655000	0.94253	CCA	RBL2	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000103479		0.348	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL2	HGNC	protein_coding	OTTHUMT00000256908.3	-	0	181	0	C	NM_005611		53499461	1	tier1	-	no_errors	ENST00000262133	ensembl	human	known	74_37	missense	36.99	109	64	SNP	0.993	T	T	53499461	C	T	53499461	3	4	174	1	0	0	0	0	1	0	0	0	13155	855	30	3	1860	3	RBL2	16	53499461	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	22347765	53499461	36855292	166	43690											
DDX19A	55308	genome.wustl.edu	37	chr16	70404231	70404231	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagggctgcggtgattGagcgcttccgagagggcaaa	10	6	17	8	3	0	4	0	2	0	2	1	5	1	4	1	3	3	4	1	3	1	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:70404231G>T	ENST00000302243.7	+	10	1289	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	DDX19A_ENST00000443119.2_Nonsense_Mutation_p.E286*|DDX19A_ENST00000417604.2_Nonsense_Mutation_p.E345*	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	376	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)				TGCGGTGATTGAGCGCTTCCG	0.602																																																	0													145	122	130					16																	70404231		2198	4300	6498	SO:0001587	stop_gained	0			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.1126G>T	16.37:g.70404231G>T	ENSP00000306117:p.Glu376*		B2RPL0|B4DRZ7|Q53FM0	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E376*	ENST00000302243.7	37	c.1126	CCDS10889.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.155187	0.94686	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000417604;ENST00000443119	.	.	.	5.19	5.19	0.71726	.	0.094433	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	16.2172	0.82238	0.0:0.0:1.0:0.0	.	.	.	.	X	376;268;345;286	.	ENSP00000306209:E268X	E	+	1	0	DDX19A	68961732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.041000	0.70988	2.419000	0.82065	0.491000	0.48974	GAG	DDX19A	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000168872		0.602	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19A	HGNC	protein_coding	OTTHUMT00000268967.2	-	0	56	0	G	NM_018332		70404231	1	tier1	-	no_errors	ENST00000302243	ensembl	human	known	74_37	nonsense	34.78	30	16	SNP	1.000	T	T	70404231	G	T	70404231	4	4	174	1	0	0	0	0	0	1	0	0	4355	1291	45	3	1164	3	DDX19A	16	70404231	Nonsense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	16904770	70404231	19950522	167	43691											
HYDIN	54768	genome.wustl.edu	37	chr16	71019134	71019134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggagaaggttgtctggaGaagactggtggtcagtcaga	11	8	17	5	0	3	4	2	0	1	4	3	6	3	4	0	5	0	1	0	5	2	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:71019134G>C	ENST00000393567.2	-	28	4436	c.4286C>G	c.(4285-4287)tCt>tGt	p.S1429C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1429					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)				GTTGTCTGGAGAAGACTGGTG	0.517																																																	0													15	15	15					16																	71019134		1809	4053	5862	SO:0001583	missense	0			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.4286C>G	16.37:g.71019134G>C	ENSP00000377197:p.Ser1429Cys		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.S1429C	ENST00000393567.2	37	c.4286	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535413	0.45176	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00958	5.5	4.75	2.76	0.32466	.	0.299341	0.17715	U	0.164441	T	0.01800	0.0057	L	0.38838	1.175	0.80722	D	1	D	0.65815	0.995	P	0.55999	0.789	T	0.70171	-0.4945	10	0.44086	T	0.13	.	7.9642	0.30089	0.1977:0.0:0.8023:0.0	.	1428	F8WD23	.	C	1429;1428	ENSP00000377197:S1429C	ENSP00000313052:S1428C	S	-	2	0	HYDIN	69576635	0.074000	0.21230	0.153000	0.22517	0.021000	0.10359	0.938000	0.28965	0.676000	0.31285	0.609000	0.83330	TCT	HYDIN	-	NULL	ENSG00000157423		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	63	0	G			71019134	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	36.17	30	17	SNP	0.733	C	C	71019134	G	C	71019134	3	2	174	1	0	0	0	0	1	0	0	0	7494	942	33	5	11315	5	HYDIN	16	71019134	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	614903	71019134	19335619	168	43692											
TERF2IP	54386	genome.wustl.edu	37	chr16	75690378	75690378	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcgtctggtcagagagctGatggatatcccatttggtcc	8	12	12	9	1	2	2	1	1	1	1	4	4	4	3	2	3	2	1	2	3	2	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:75690378G>C	ENST00000300086.4	+	3	1166	c.1069G>C	c.(1069-1071)Gat>Cat	p.D357H		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	357					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						TCAGAGAGCTGATGGATATCC	0.433																																																	0													158	163	161					16																	75690378		2198	4300	6498	SO:0001583	missense	0			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.1069G>C	16.37:g.75690378G>C	ENSP00000300086:p.Asp357His		B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	Missense_Mutation	SNP	pfam_Rap1_Myb_dom,superfamily_Homeodomain-like,superfamily_BRCT_dom	p.D357H	ENST00000300086.4	37	c.1069	CCDS32491.1	16	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387835	0.82902	.	.	ENSG00000166848	ENST00000300086	T	0.46063	0.88	5.84	5.84	0.93424	.	0.282373	0.38778	N	0.001573	T	0.56746	0.2006	L	0.32530	0.975	0.53688	D	0.999979	D	0.89917	1.0	D	0.85130	0.997	T	0.57774	-0.7753	10	0.87932	D	0	-24.3602	18.7214	0.91697	0.0:0.0:1.0:0.0	.	357	Q9NYB0	TE2IP_HUMAN	H	357	ENSP00000300086:D357H	ENSP00000300086:D357H	D	+	1	0	TERF2IP	74247879	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.621000	0.74228	2.760000	0.94817	0.591000	0.81541	GAT	TERF2IP	-	NULL	ENSG00000166848		0.433	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TERF2IP	HGNC	protein_coding	OTTHUMT00000435519.1	-	0	44	0	G	NM_018975		75690378	1	tier1	-	no_errors	ENST00000300086	ensembl	human	known	74_37	missense	37.50	30	18	SNP	1.000	C	C	75690378	G	C	75690378	3	2	174	1	0	0	0	0	1	0	0	0	15810	1290	45	5	1079	5	TERF2IP	16	75690378	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	4671244	75690378	14664375	169	43693											
ANKRD11	29123	genome.wustl.edu	37	chr16	89349603	89349603	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tctcatctgtgaagatgtctGcgatgtaccagcttttctct	7	16	8	10	1	4	2	1	1	4	1	6	3	4	2	1	0	3	2	1	0	2	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr16:89349603G>A	ENST00000301030.4	-	9	3807	c.3347C>T	c.(3346-3348)gCa>gTa	p.A1116V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1116V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1116	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)		GAAGATGTCTGCGATGTACCA	0.517																																																	0													181	163	169					16																	89349603		2198	4300	6498	SO:0001583	missense	0			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.3347C>T	16.37:g.89349603G>A	ENSP00000301030:p.Ala1116Val		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A1116V	ENST00000301030.4	37	c.3347	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256297	0.59321	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.51071	0.72;0.72	5.32	5.32	0.75619	.	0.066900	0.64402	D	0.000015	T	0.48095	0.1481	M	0.72894	2.215	0.80722	D	1	P	0.42456	0.78	B	0.38106	0.265	T	0.56583	-0.7955	10	0.72032	D	0.01	.	13.6513	0.62312	0.0746:0.0:0.9254:0.0	.	1116	Q6UB99	ANR11_HUMAN	V	1116	ENSP00000301030:A1116V;ENSP00000367581:A1116V	ENSP00000301030:A1116V	A	-	2	0	ANKRD11	87877104	1.000000	0.71417	0.117000	0.21633	0.052000	0.14988	5.416000	0.66417	2.641000	0.89580	0.655000	0.94253	GCA	ANKRD11	-	NULL	ENSG00000167522		0.517	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	-	0	39	0	G	NM_013275		89349603	-1	tier1	-	no_errors	ENST00000301030	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.892	A	A	89349603	G	A	89349603	3	1	174	1	0	0	0	0	1	0	0	0	639	1319	46	3	4664	3	ANKRD11	16	89349603	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	13659225	89349603	1005150	170	43694											
TP53	7157	genome.wustl.edu	37	chr17	7576652	7576652	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctttttgaaagctggtCtggtcctttaaaatatatat	10	20	6	5	0	2	1	0	1	2	0	3	1	3	1	1	2	1	1	1	2	6	9			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr17:7576652C>T	ENST00000269305.4	-	9	1183				TP53_ENST00000455263.2_Intron|TP53_ENST00000420246.2_Silent_p.Q333Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_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						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.I332fs*49(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)	GAAAGCTGGTCTGGTCCTTTA	0.393		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"	10	Whole gene deletion(8)|Unknown(1)|Insertion - Frameshift(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|stomach(1)|breast(1)											57	50	52					17																	7576652		1567	3582	5149	SO:0001627	intron_variant	0	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.993+200G>A	17.37:g.7576652C>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	pfam_p53_DNA-bd,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	p.Q333	ENST00000269305.4	37	c.999	CCDS11118.1	17																																																																																			TP53	-	NULL	ENSG00000141510		0.393	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	57	0	C	NM_000546		7576652	-1	tier1	-	no_errors	ENST00000420246	ensembl	human	known	74_37	silent	29.55	31	13	SNP	0.131	T	T	7576652	C	T	7576652	1	4	174	0	1	0	0	0	0	0	0	0	16429	912	32	3		3	TP53	17	7576652	Intron	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09		7576652	73618558	171	43695											
TP53	7157	genome.wustl.edu	37	chr17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgtgctgtgactgcttgTagatggccatggcgcggacg	6	11	15	9	3	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	1	2	rs148924904		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGACTGCTTGTAGATGGCCAT	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	GRCh37	CM942135	TP53	M	rs148924904						53	54	53					17																	7578442		2203	4300	6503	SO:0001583	missense	0	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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y163C	ENST00000269305.4	37	c.488	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	18	0	T	NM_000546		7578442	-1	tier1	rs148924904	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	C	C	7578442	T	C	7578442	3	2	174	1	0	0	0	0	1	0	0	0	16429	1638	57	4	810	4	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-VR-AA7B-01A-31D-A403-09	1790	7578442	73616768	172	43696											
DHRS7C	201140	genome.wustl.edu	37	chr17	9674864	9674864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggccaccacggcgaaaaAgaactccgggaagaaggtgc	15	2	13	11	3	0	2	0	0	0	2	1	4	1	3	3	4	2	0	3	4	5	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr17:9674864A>G	ENST00000330255.5	-	6	892	c.880T>C	c.(880-882)Ttt>Ctt	p.F294L	DHRS7C_ENST00000571134.1_Missense_Mutation_p.F293L	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	294					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						ACGGCGAAAAAGAACTCCGGG	0.592																																																	0													49	56	53					17																	9674864		2029	4169	6198	SO:0001583	missense	0				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.880T>C	17.37:g.9674864A>G	ENSP00000327975:p.Phe294Leu		B7ZW74|B9EJH3	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.F294L	ENST00000330255.5	37	c.880	CCDS56020.1	17	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603295	0.46423	.	.	ENSG00000184544	ENST00000330255	D	0.85556	-2.0	5.5	5.5	0.81552	.	0.049428	0.85682	D	0.000000	D	0.82444	0.5038	L	0.52126	1.63	0.45762	D	0.998657	B;B	0.26809	0.141;0.16	B;B	0.27380	0.046;0.079	T	0.81102	-0.1085	10	0.62326	D	0.03	.	14.7364	0.69419	1.0:0.0:0.0:0.0	.	294;290	A6NNS2;B9EJH3	DRS7C_HUMAN;.	L	294	ENSP00000327975:F294L	ENSP00000327975:F294L	F	-	1	0	DHRS7C	9615589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.454000	0.60068	2.302000	0.77476	0.533000	0.62120	TTT	DHRS7C	-	NULL	ENSG00000184544		0.592	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	DHRS7C	HGNC	protein_coding	OTTHUMT00000439863.1	-	0	81	0	A	XM_113912		9674864	-1	tier1	-	no_errors	ENST00000330255	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	G	G	9674864	A	G	9674864	3	3	174	1	0	0	0	0	1	0	0	0	4511	72	3	4	62	4	DHRS7C	17	9674864	Missense_Mutation	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09	2096422	9674864	71520346	173	43697											
MYO15A	51168	genome.wustl.edu	37	chr17	18023073	18023073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccccatatgcgcccccgtCggggtactcgtctccttaca	6	9	8	18	4	1	0	0	0	1	0	4	0	1	0	5	2	3	1	5	2	3	3	rs200056157		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr17:18023073C>T	ENST00000205890.5	+	2	1297	c.959C>T	c.(958-960)tCg>tTg	p.S320L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	320					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)					GCGCCCCCGTCGGGGTACTCG	0.602																																																	0													53	59	58					17																	18023073		1922	4119	6041	SO:0001583	missense	0			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.959C>T	17.37:g.18023073C>T	ENSP00000205890:p.Ser320Leu		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.S320L	ENST00000205890.5	37	c.959	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.931022	0.00488	.	.	ENSG00000091536	ENST00000205890	D	0.88277	-2.36	5.6	3.39	0.38822	.	.	.	.	.	T	0.79718	0.4494	N	0.19112	0.55	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.69989	-0.4995	9	0.72032	D	0.01	.	6.4754	0.22033	0.0:0.5214:0.3538:0.1249	.	320	Q9UKN7	MYO15_HUMAN	L	320	ENSP00000205890:S320L	ENSP00000205890:S320L	S	+	2	0	MYO15A	17963798	0.000000	0.05858	0.007000	0.13788	0.093000	0.18481	-0.387000	0.07361	1.339000	0.45563	0.561000	0.74099	TCG	MYO15A	-	NULL	ENSG00000091536		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0	158	0	C	NM_016239		18023073	1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	24.21	72	23	SNP	0.000	T	T	18023073	C	T	18023073	3	4	174	1	0	0	0	0	1	0	0	0	10101	893	31	1	961	1	MYO15A	17	18023073	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	8348209	18023073	63172137	174	43698											
SUPT6H	6830	genome.wustl.edu	37	chr17	27023872	27023872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttttcagcatacatcaaGagagtgatcgcacacccatc	12	9	6	14	1	2	2	2	1	0	1	4	3	2	2	2	0	2	2	2	0	2	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr17:27023872G>A	ENST00000314616.6	+	30	4264	c.3981G>A	c.(3979-3981)aaG>aaA	p.K1327K	SUPT6H_ENST00000347486.4_Silent_p.K1327K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1327	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)					CATACATCAAGAGAGTGATCG	0.458																																																	0													114	97	103					17																	27023872		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3981G>A	17.37:g.27023872G>A			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.K1327	ENST00000314616.6	37	c.3981	CCDS32596.1	17																																																																																			SUPT6H	-	pirsf_TF_Spt6,pfscan_SH2	ENSG00000109111		0.458	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2		0	36	0	G	NM_003170		27023872	1			no_errors	ENST00000314616	ensembl	human	known	74_37	silent	22.22	7	2	SNP	1.000	A	A	27023872	G	A	27023872	2	1	174	1	0	0	0	0	0	0	0	1	15447	933	33	3		3	SUPT6H	17	27023872	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	9000799	27023872	54171338	175	43699											
ITGA2B	3674	genome.wustl.edu	37	chr17	42462407	42462407	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggatgcctgggcggtaactCgagaaaatatccgcaactgg	12	7	13	9	3	0	1	0	0	0	1	2	3	1	2	2	4	3	2	2	4	5	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr17:42462407C>G	ENST00000262407.5	-	7	739	c.708G>C	c.(706-708)tcG>tcC	p.S236S	ITGA2B_ENST00000377068.3_Intron|ITGA2B_ENST00000353281.4_Silent_p.S236S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	236					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)	GGCGGTAACTCGAGAAAATAT	0.612																																																	0													88	91	90					17																	42462407		2203	4300	6503	SO:0001819	synonymous_variant	0				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.708G>C	17.37:g.42462407C>G			B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S236	ENST00000262407.5	37	c.708	CCDS32665.1	17																																																																																			ITGA2B	-	NULL	ENSG00000005961		0.612	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	HGNC	protein_coding	OTTHUMT00000439823.1	-	0	76	0	C			42462407	-1	tier1	-	no_errors	ENST00000262407	ensembl	human	known	74_37	silent	22.41	45	13	SNP	0.323	G	G	42462407	C	G	42462407	2	3	174	1	0	0	0	0	0	0	0	1	7903	871	31	5		5	ITGA2B	17	42462407	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	15438535	42462407	38732803	176	43700											
EFTUD2	9343	genome.wustl.edu	37	chr17	42931671	42931671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	gggccctccctggttccccaCtggaaaccttgaacgatgct	7	9	10	15	1	0	1	0	1	0	0	2	3	2	2	5	3	3	2	5	3	2	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr17:42931671C>G	ENST00000426333.2	-	23	2610	c.2313G>C	c.(2311-2313)caG>caC	p.Q771H	EFTUD2_ENST00000591382.1_Missense_Mutation_p.Q771H|EFTUD2_ENST00000592576.1_Missense_Mutation_p.Q761H|EFTUD2_ENST00000402521.3_Missense_Mutation_p.Q736H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	771					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TGGTTCCCCACTGGAAACCTT	0.572																																					Ovarian(10;65 485 10258 29980 30707)												0													125	120	122					17																	42931671		2203	4300	6503	SO:0001583	missense	0			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2313G>C	17.37:g.42931671C>G	ENSP00000392094:p.Gln771His		B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.Q771H	ENST00000426333.2	37	c.2313	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285630	0.80803	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.32988	1.43;1.43	5.16	4.19	0.49359	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.80957	-0.1150	10	0.87932	D	0	-21.5944	13.8802	0.63678	0.0:0.9269:0.0:0.0731	.	761;771	B4DMC0;Q15029	.;U5S1_HUMAN	H	771;761;736	ENSP00000392094:Q771H;ENSP00000385873:Q736H	ENSP00000262414:Q761H	Q	-	3	2	EFTUD2	40287197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.972000	0.49256	1.417000	0.47077	0.561000	0.74099	CAG	EFTUD2	-	pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV	ENSG00000108883		0.572	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	-	0	43	0	C	NM_004247		42931671	-1	tier1	-	no_errors	ENST00000426333	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	G	G	42931671	C	G	42931671	3	3	174	1	0	0	0	0	1	0	0	0	4975	564	20	5	629	5	EFTUD2	17	42931671	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	469264	42931671	38263539	177	43701											
LRRC37A3	374819	genome.wustl.edu	37	chr17	62892159	62892159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacagagacactgggtgaaGctaaatgatgagtttgatgg	13	10	13	5	0	1	5	1	4	0	1	1	6	1	5	0	2	1	2	0	2	3	2	rs17857225		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr17:62892159G>T	ENST00000584306.1	-	3	1747	c.1217C>A	c.(1216-1218)gCt>gAt	p.A406D	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A406D|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	406						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACTGGGTGAAGCTAAATGATG	0.537																																																	0													1	1	1					17																	62892159		292	887	1179	SO:0001583	missense	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1217C>A	17.37:g.62892159G>T	ENSP00000464535:p.Ala406Asp		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A406D	ENST00000584306.1	37	c.1217	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	0	-2.581395	0.00129	.	.	ENSG00000176809	ENST00000319651	T	0.59772	0.24	2.63	-5.25	0.02781	.	.	.	.	.	T	0.16342	0.0393	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11108	-1.0601	9	0.11794	T	0.64	.	2.8545	0.05568	0.2063:0.2804:0.3945:0.1188	.	406	O60309	L37A3_HUMAN	D	406	ENSP00000325713:A406D	ENSP00000325713:A406D	A	-	2	0	LRRC37A3	60322621	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.921000	0.01569	-5.806000	0.00009	-2.171000	0.00323	GCT	LRRC37A3	-	NULL	ENSG00000176809		0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	-	0	30	0	G	NM_199340		62892159	-1	tier1	rs199539333	no_errors	ENST00000319651	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.000	T	T	62892159	G	T	62892159	3	4	174	1	0	0	0	0	1	0	0	0	9028	971	34	3	3735	3	LRRC37A3	17	62892159	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	19960488	62892159	18303051	178	43702											
GALK1	2584	genome.wustl.edu	37	chr17	73759429	73759429	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgctggaggaaggtgtaCgtggccacttccaaggatgc	9	8	15	9	1	0	0	0	0	0	0	1	3	1	3	2	5	4	3	2	5	3	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr17:73759429C>T	ENST00000588479.1	-	3	1021	c.447G>A	c.(445-447)acG>acA	p.T149T	GALK1_ENST00000437911.1_Silent_p.T179T|GALK1_ENST00000225614.2_Silent_p.T149T			P51570	GALK1_HUMAN	galactokinase 1	149					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAAGGTGTACGTGGCCACTT	0.647																																																	0													60	48	52					17																	73759429		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.447G>A	17.37:g.73759429C>T			B2RC07|B4E1G6	Silent	SNP	pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase	p.T179	ENST00000588479.1	37	c.537	CCDS11728.1	17																																																																																			GALK1	-	pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Galactokinase	ENSG00000108479		0.647	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	GALK1	HGNC	protein_coding	OTTHUMT00000448430.1	-	0	51	0	C			73759429	-1	tier1	-	no_errors	ENST00000437911	ensembl	human	known	74_37	silent	45.00	33	27	SNP	0.163	T	T	73759429	C	T	73759429	2	4	174	1	0	0	0	0	0	0	0	1	6228	523	19	1		1	GALK1	17	73759429	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	10867270	73759429	7435781	179	43703											
USP36	57602	genome.wustl.edu	37	chr17	76795028	76795028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ttcgtcccagtcatcaaccaCggtctcagtccgggcctgtc	6	10	9	16	3	3	0	3	0	1	0	8	0	5	0	4	2	1	0	4	2	1	1	rs201438220	byFrequency	TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr17:76795028C>T	ENST00000542802.3	-	19	3645	c.3202G>A	c.(3202-3204)Gtg>Atg	p.V1068M	USP36_ENST00000449938.2_Missense_Mutation_p.V673M|USP36_ENST00000312010.6_Missense_Mutation_p.V1068M			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1066					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)			TCATCAACCACGGTCTCAGTC	0.587													C|||	2	0.000399361	0	0	5008	,	,		19870	0.002		0	False		,,,				2504	0																0													323	252	276					17																	76795028		2203	4300	6503	SO:0001583	missense	0			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.3202G>A	17.37:g.76795028C>T	ENSP00000441214:p.Val1068Met		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.V1068M	ENST00000542802.3	37	c.3202	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	c	16.34	3.094478	0.56075	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.45276	0.9;0.9;0.9	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.65780	0.2724	M	0.74258	2.255	0.47659	D	0.999487	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69120	-0.5229	10	0.72032	D	0.01	-18.8464	16.8481	0.85986	0.0:1.0:0.0:0.0	.	1068;673	Q9P275-2;E9PEW0	.;.	M	1068;673;1068	ENSP00000310590:V1068M;ENSP00000401119:V673M;ENSP00000441214:V1068M	ENSP00000310590:V1068M	V	-	1	0	USP36	74306623	0.989000	0.36119	0.054000	0.19295	0.024000	0.10985	2.854000	0.48325	2.509000	0.84616	0.552000	0.68991	GTG	USP36	-	NULL	ENSG00000055483		0.587	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3		0	34	0	C	NM_025090		76795028	-1			no_errors	ENST00000312010	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.997	T	T	76795028	C	T	76795028	3	4	174	1	0	0	0	0	1	0	0	0	17116	536	19	1	177	1	USP36	17	76795028	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	3035599	76795028	4400182	180	43704											
DLGAP1	9229	genome.wustl.edu	37	chr18	3879663	3879663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggtggcggatgcggcCggggctgtcgctgcggtgct	3	7	19	12	5	0	0	0	0	0	0	1	1	0	1	2	7	3	3	2	7	0	0	rs575139844	byFrequency	TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr18:3879663C>T	ENST00000315677.3	-	4	1001	c.406G>A	c.(406-408)Ggc>Agc	p.G136S	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.G136S|DLGAP1_ENST00000515196.2_Missense_Mutation_p.G136S|DLGAP1_ENST00000584874.1_Missense_Mutation_p.G136S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	136					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)				CGGATGCGGCCGGGGCTGTCG	0.682													C|||	5	0.000998403	0	0	5008	,	,		14835	0		0	False		,,,				2504	0.0051																0													61	70	67					18																	3879663		2203	4299	6502	SO:0001583	missense	0			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.406G>A	18.37:g.3879663C>T	ENSP00000316377:p.Gly136Ser		A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	pfam_GKAP	p.G136S	ENST00000315677.3	37	c.406	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593694	0.86953	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.18174	2.23;2.23	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	L	0.54965	1.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.01679	-1.1297	10	0.30854	T	0.27	-33.3494	19.4529	0.94875	0.0:1.0:0.0:0.0	.	136;136;136	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	S	136	ENSP00000316377:G136S;ENSP00000445973:G136S	ENSP00000316377:G136S	G	-	1	0	DLGAP1	3869663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.788000	0.85771	2.595000	0.87683	0.655000	0.94253	GGC	DLGAP1	-	NULL	ENSG00000170579		0.682	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	-	0	14	0	C			3879663	-1	tier1	-	no_errors	ENST00000315677	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	T	T	3879663	C	T	3879663	3	4	174	1	0	0	0	0	1	0	0	0	4573	652	23	1	2622	1	DLGAP1	18	3879663	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09		3879663	74197585	181	43705											
MC2R	4158	genome.wustl.edu	37	chr18	13884645	13884645	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagtacctgctgcagaaGatcatctttttgaatgcgtc	10	13	8	10	1	2	3	1	1	1	2	3	3	2	3	2	0	5	3	2	0	4	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr18:13884645G>T	ENST00000327606.3	-	2	1053	c.873C>A	c.(871-873)atC>atA	p.I291I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	291					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.I291I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGCTGCAGAAGATCATCTTTT	0.478																																					Colon(141;1584 1782 35999 48227 48692)												1	Substitution - coding silent(1)	large_intestine(1)											119	115	116					18																	13884645		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.873C>A	18.37:g.13884645G>T			A8K016|Q3MI45|Q504X6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn	p.I291	ENST00000327606.3	37	c.873	CCDS11869.1	18																																																																																			MC2R	-	prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt	ENSG00000185231		0.478	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC2R	HGNC	protein_coding	OTTHUMT00000254639.2	-	0	35	0	G			13884645	-1	tier1	-	no_errors	ENST00000327606	ensembl	human	known	74_37	silent	25.00	18	6	SNP	0.997	T	T	13884645	G	T	13884645	2	4	174	1	0	0	0	0	0	0	0	1	9402	932	33	3		3	MC2R	18	13884645	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	10004982	13884645	64192603	182	43706											
ABHD3	171586	genome.wustl.edu	37	chr18	19284501	19284501	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtagtagaaggcataagcGacgctgaagcccaggataag	15	5	14	7	2	0	2	0	1	0	1	0	4	0	3	1	3	2	4	1	3	6	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr18:19284501G>A	ENST00000289119.2	-	1	265	c.126C>T	c.(124-126)gtC>gtT	p.V42V	ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000578270.1_5'Flank|ABHD3_ENST00000580981.1_Silent_p.V42V	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	42						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						AGGCATAAGCGACGCTGAAGC	0.657																																																	0													40	36	37					18																	19284501		2181	4285	6466	SO:0001819	synonymous_variant	0			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.126C>T	18.37:g.19284501G>A			B0YIV0|B7Z5C2|O43411	Silent	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.V42	ENST00000289119.2	37	c.126	CCDS32802.1	18																																																																																			ABHD3	-	pirsf_AB-Hydro_YheT	ENSG00000158201		0.657	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD3	HGNC	protein_coding	OTTHUMT00000444757.1	-	0	119	0	G			19284501	-1	tier1	-	no_errors	ENST00000289119	ensembl	human	known	74_37	silent	12.71	103	15	SNP	0.973	A	A	19284501	G	A	19284501	2	1	174	1	0	0	0	0	0	0	0	1	83	1045	37	1		1	ABHD3	18	19284501	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	5399856	19284501	58792747	183	43707											
SYT4	6860	genome.wustl.edu	37	chr18	40850370	40850370	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtcacagatctctttcCagtgctctccaccagttcct	7	13	7	14	0	3	1	1	0	2	1	7	1	5	1	4	1	1	3	4	1	1	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr18:40850370C>T	ENST00000255224.3	-	4	1582	c.1214G>A	c.(1213-1215)tGg>tAg	p.W405*	SYT4_ENST00000590752.1_Nonsense_Mutation_p.W387*|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	405					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						GATCTCTTTCCAGTGCTCTCC	0.483																																					NSCLC(85;81 1419 2855 22820 35912)												0													168	169	168					18																	40850370		2203	4300	6503	SO:0001587	stop_gained	0			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.1214G>A	18.37:g.40850370C>T	ENSP00000255224:p.Trp405*		B4DEU3|Q9P2K4	Nonsense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.W405*	ENST00000255224.3	37	c.1214	CCDS11922.1	18	.	.	.	.	.	.	.	.	.	.	C	40	8.219605	0.98712	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5717	0.95423	0.0:1.0:0.0:0.0	.	.	.	.	X	405;210	.	ENSP00000255224:W405X	W	-	2	0	SYT4	39104368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.644000	0.89710	0.655000	0.94253	TGG	SYT4	-	superfamily_C2_dom,smart_C2_dom	ENSG00000132872		0.483	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	-	0	32	0	C	NM_020783		40850370	-1	tier1	-	no_errors	ENST00000255224	ensembl	human	known	74_37	nonsense	14.81	23	4	SNP	1.000	T	T	40850370	C	T	40850370	4	4	174	1	0	0	0	0	0	1	0	0	15523	595	21	3	67	3	SYT4	18	40850370	Nonsense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	21565869	40850370	37226878	184	43708											
KATNAL2	83473	genome.wustl.edu	37	chr18	44584698	44584698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagacaggggacaccaaatCgctcaataaggagcatccta	16	5	10	10	1	1	1	1	0	0	1	3	4	2	3	2	3	1	2	2	3	5	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr18:44584698C>T	ENST00000245121.5	+	4	403	c.209C>T	c.(208-210)tCg>tTg	p.S70L	KATNAL2_ENST00000356157.7_Missense_Mutation_p.S142L|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						GACACCAAATCGCTCAATAAG	0.473																																																	0													93	91	92					18																	44584698		2203	4300	6503	SO:0001583	missense	0			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.209C>T	18.37:g.44584698C>T	ENSP00000245121:p.Ser70Leu			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S70L	ENST00000245121.5	37	c.209	CCDS32828.1	18	.	.	.	.	.	.	.	.	.	.	C	8.707	0.911063	0.17833	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.93307	-3.19;-3.2	5.35	5.35	0.76521	.	0.709376	0.14131	N	0.339373	D	0.89150	0.6633	L	0.36672	1.1	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.78183	-0.2303	10	0.30854	T	0.27	-14.1573	12.358	0.55186	0.0:0.8302:0.1698:0.0	.	142	Q8IYT4	KATL2_HUMAN	L	142;70	ENSP00000348478:S142L;ENSP00000245121:S70L	ENSP00000245121:S70L	S	+	2	0	KATNAL2	42838696	0.000000	0.05858	0.006000	0.13384	0.504000	0.33889	0.808000	0.27154	2.518000	0.84900	0.561000	0.74099	TCG	KATNAL2	-	NULL	ENSG00000167216		0.473	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	KATNAL2	HGNC	protein_coding	OTTHUMT00000446138.2	-	0	72	0	C	NM_031303		44584698	1	tier1	-	no_errors	ENST00000245121	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.004	T	T	44584698	C	T	44584698	3	4	174	1	0	0	0	0	1	0	0	0	8013	893	31	1	219	1	KATNAL2	18	44584698	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	3734328	44584698	33492550	185	43709											
TCF4	6925	genome.wustl.edu	37	chr18	52896218	52896218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgttgatgtcacggaccCgcagacgctctcgggcattg	6	9	12	14	5	2	2	1	1	1	1	4	3	2	3	2	2	0	4	2	2	0	2	rs121909121		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr18:52896218C>T	ENST00000356073.4	-	18	2338	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	TCF4_ENST00000568740.1_Missense_Mutation_p.R551Q|TCF4_ENST00000566279.1_Missense_Mutation_p.R520Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R580Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R556Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R509Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R446Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R586Q|TCF4_ENST00000561831.3_Missense_Mutation_p.R416Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R552Q|TCF4_ENST00000567880.1_Missense_Mutation_p.R516Q|TCF4_ENST00000354452.3_Missense_Mutation_p.R580Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R534Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R446Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R573Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R556Q|TCF4_ENST00000570287.2_Missense_Mutation_p.R416Q|TCF4_ENST00000457482.3_Missense_Mutation_p.R420Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R505Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R446Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R576Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R682Q	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	576	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.		R -> Q (in PTHS; loss of function). {ECO:0000269|PubMed:17436254, ECO:0000269|PubMed:19235238, ECO:0000269|PubMed:22045651}.|R -> W (in PTHS; mislocalized to small spherical punctae that are dispersed throughout the nucleus; can attenuate homo- and heterodimer formation; affects transcriptional activity in a context- dependent manner). {ECO:0000269|PubMed:17436254, ECO:0000269|PubMed:17436255, ECO:0000269|PubMed:22045651}.		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)		GTCACGGACCCGCAGACGCTC	0.582																																																	0			GRCh37	CM072075	TCF4	M	rs121909121						182	157	166					18																	52896218		2203	4300	6503	SO:0001583	missense	0			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.1727G>A	18.37:g.52896218C>T	ENSP00000348374:p.Arg576Gln		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	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R682Q	ENST00000356073.4	37	c.2045	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	C	36	5.972554	0.97162	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	D;D;D;D;D;D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53	5.89	5.89	0.94794	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	M	0.93150	3.385	0.80722	A	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0;1.0;0.997;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.979;1.0;1.0;0.964;1.0	D	0.97341	0.9957	9	0.87932	D	0	-8.6194	19.0276	0.92939	0.0:1.0:0.0:0.0	.	556;580;416;682;576;534;509;420;573	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	Q	580;420;576;534;552;556;509;446;682	ENSP00000346440:R580Q;ENSP00000409447:R420Q;ENSP00000348374:R576Q;ENSP00000439656:R534Q;ENSP00000445202:R552Q;ENSP00000440731:R556Q;ENSP00000441562:R509Q;ENSP00000439827:R446Q;ENSP00000381382:R682Q	ENSP00000346440:R580Q	R	-	2	0	TCF4	51047216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.797000	0.96272	0.563000	0.77884	CGG	TCF4	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000196628		0.582	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	-	0	36	0	C	NM_003199		52896218	-1	tier1	rs121909121	no_errors	ENST00000398339	ensembl	human	known	74_37	missense	32.56	29	14	SNP	1.000	T	T	52896218	C	T	52896218	3	4	174	1	0	0	0	0	1	0	0	0	15742	652	23	1	284	1	TCF4	18	52896218	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	8311520	52896218	25181030	186	43710											
TXNL4A	10907	genome.wustl.edu	37	chr18	77733717	77733717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttggtggagtagtccttggGggacaccaccaggccgcggc	6	7	16	12	2	0	0	0	0	0	0	1	2	1	2	4	6	0	1	4	6	1	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr18:77733717G>A	ENST00000269601.5	-	3	597	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	TXNL4A_ENST00000592957.1_Missense_Mutation_p.P62S|TXNL4A_ENST00000588162.1_3'UTR|TXNL4A_ENST00000592837.1_Missense_Mutation_p.P62S|TXNL4A_ENST00000585474.1_Missense_Mutation_p.P62S	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	133					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)				breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		TAGTCCTTGGGGGACACCACC	0.557																																					Ovarian(160;2333 2597 11821 36245)												0													95	95	95					18																	77733717		2203	4300	6503	SO:0001583	missense	0			AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"similar to S. pombe dim1+"	611595	"thioredoxin-like 4"	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.397C>T	18.37:g.77733717G>A	ENSP00000269601:p.Pro133Ser		B2RC18|O14834	Missense_Mutation	SNP	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	p.P133S	ENST00000269601.5	37	c.397	CCDS32852.1	18	.	.	.	.	.	.	.	.	.	.	G	34	5.303751	0.95601	.	.	ENSG00000141759	ENST00000269601	.	.	.	5.76	5.76	0.90799	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	H	0.97829	4.085	0.80722	D	1	P	0.45902	0.868	P	0.47206	0.541	D	0.89680	0.3890	9	0.87932	D	0	-32.4977	19.9113	0.97025	0.0:0.0:1.0:0.0	.	133	P83876	TXN4A_HUMAN	S	133	.	ENSP00000269601:P133S	P	-	1	0	TXNL4A	75834705	1.000000	0.71417	0.856000	0.33681	0.984000	0.73092	8.118000	0.89577	2.876000	0.98609	0.655000	0.94253	CCC	TXNL4A	-	pfam_mRNA_splic_U5,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	ENSG00000141759		0.557	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL4A	HGNC	protein_coding	OTTHUMT00000451036.1	-	0	48	0	G	NM_006701		77733717	-1	tier1	-	no_errors	ENST00000269601	ensembl	human	known	74_37	missense	31.82	30	14	SNP	1.000	A	A	77733717	G	A	77733717	3	1	174	1	0	0	0	0	1	0	0	0	16854	1232	43	3	35	3	TXNL4A	18	77733717	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	24837499	77733717	343531	187	43711											
ADNP2	22850	genome.wustl.edu	37	chr18	77893549	77893549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaatactctacaaaggtgCttacttcattcaagaatcat	15	13	5	8	0	4	1	3	0	1	1	4	1	4	1	0	1	4	2	0	1	8	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr18:77893549C>T	ENST00000262198.4	+	4	708	c.253C>T	c.(253-255)Ctt>Ttt	p.L85F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	85					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TACAAAGGTGCTTACTTCATT	0.378																																																	0													90	79	83					18																	77893549		2203	4300	6503	SO:0001583	missense	0			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.253C>T	18.37:g.77893549C>T	ENSP00000262198:p.Leu85Phe		A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.L85F	ENST00000262198.4	37	c.253	CCDS32853.1	18	.	.	.	.	.	.	.	.	.	.	C	9.549	1.115341	0.20795	.	.	ENSG00000101544	ENST00000262198	T	0.73681	-0.77	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);	0.100994	0.43110	D	0.000612	T	0.78342	0.4268	N	0.17474	0.49	0.38175	D	0.939456	D	0.89917	1.0	D	0.76575	0.988	T	0.76724	-0.2854	9	.	.	.	-16.9551	20.8794	0.99867	0.0:1.0:0.0:0.0	.	85	Q6IQ32	ADNP2_HUMAN	F	85	ENSP00000262198:L85F	.	L	+	1	0	ADNP2	75994540	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	1.955000	0.40372	2.941000	0.99782	0.655000	0.94253	CTT	ADNP2	-	smart_Znf_C2H2-like	ENSG00000101544		0.378	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1		0	91	0	C	NM_014913		77893549	1			no_errors	ENST00000262198	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.999	T	T	77893549	C	T	77893549	3	4	174	1	0	0	0	0	1	0	0	0	324	797	28	3	263	3	ADNP2	18	77893549	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	159832	77893549	183699	188	43712											
PLIN4	729359	genome.wustl.edu	37	chr19	4512994	4512994	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacctgttaggacagtcttActggtgtccacgccggtctg	6	12	12	11	2	2	0	0	0	2	0	3	1	3	1	3	3	2	2	3	3	3	3	rs531498368	byFrequency	TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:4512994A>G	ENST00000301286.3	-	3	935	c.936T>C	c.(934-936)agT>agC	p.S312S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	312	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.S240S(1)|p.S312S(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						GGACAGTCTTACTGGTGTCCA	0.557													a|||	23	0.00459265	0.0166	0	5008	,	,		19446	0		0.001	False		,,,				2504	0																2	Substitution - coding silent(2)	endometrium(2)											25	13	17					19																	4512994		1769	3759	5528	SO:0001819	synonymous_variant	0			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.936T>C	19.37:g.4512994A>G			A6NEI2	Silent	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.S312	ENST00000301286.3	37	c.936	CCDS45927.1	19																																																																																			PLIN4	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000167676		0.557	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1		0	20	0	A	XM_170901		4512994	-1			no_errors	ENST00000301286	ensembl	human	novel	74_37	silent	12.00	22	3	SNP	0.000	G	G	4512994	A	G	4512994	2	3	174	1	0	0	0	0	0	0	0	1	12131	388	14	4		4	PLIN4	19	4512994	Silent	SNP	A	TCGA-VR-AA7B-01A-31D-A403-09		4512994	54615989	189	43713											
MUC16	94025	genome.wustl.edu	37	chr19	9003588	9003588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgaaggaccctctccGtggtgttgaacttcctggag	7	10	12	12	1	1	2	0	2	1	0	3	5	2	4	4	3	1	1	4	3	2	2	rs369380417		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:9003588G>A	ENST00000397910.4	-	49	40255	c.40052C>T	c.(40051-40053)aCg>aTg	p.T13351M	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13353	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						GACCCTCTCCGTGGTGTTGAA	0.572													G|||	1	0.000199681	0	0	5008	,	,		18157	0		0.001	False		,,,				2504	0																0								G	MET/THR	1,4029		0,1,2014	245	203	217		40052	2.2	0	19		217	0,8350		0,0,4175	no	missense	MUC16	NM_024690.2	81	0,1,6189	AA,AG,GG		0.0,0.0248,0.0081	probably-damaging	13351/14508	9003588	1,12379	2015	4175	6190	SO:0001583	missense	0			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.40052C>T	19.37:g.9003588G>A	ENSP00000381008:p.Thr13351Met		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T13351M	ENST00000397910.4	37	c.40052	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.38|12.38	1.919462|1.919462	0.33908|0.33908	2.48E-4|2.48E-4	0.0|0.0	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910	.|T	.|0.51817	.|0.69	3.24|3.24	2.18|2.18	0.27775|0.27775	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.64746|0.64746	0.2626|0.2626	M|M	0.80616|0.80616	2.505|2.505	.|.	.|.	.|.	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.72625	.|0.909;0.978	T|T	0.71307|0.71307	-0.4632|-0.4632	4|8	.|0.87932	.|D	.|0	-1.1554|-1.1554	7.0286|7.0286	0.24954|0.24954	0.1394:0.0:0.8606:0.0|0.1394:0.0:0.8606:0.0	.|.	.|20996;13351	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	W|M	191|13351	.|ENSP00000381008:T13351M	.|ENSP00000381008:T13351M	R|T	-|-	1|2	2|0	MUC16|MUC16	8864588|8864588	0.011000|0.011000	0.17503|0.17503	0.003000|0.003000	0.11579|0.11579	0.205000|0.205000	0.24178|0.24178	1.092000|1.092000	0.30927|0.30927	0.640000|0.640000	0.30582|0.30582	0.455000|0.455000	0.32223|0.32223	CGG|ACG	MUC16	-	pfam_SEA_dom	ENSG00000181143		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	81	0	G	NM_024690		9003588	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	13.33	52	8	SNP	0.013	A	A	9003588	G	A	9003588	3	1	174	1	0	0	0	0	1	0	0	0	10011	1145	40	1	3615	1	MUC16	19	9003588	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	4490594	9003588	50125395	190	43714											
CC2D1A	54862	genome.wustl.edu	37	chr19	14023373	14023373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggtccttggagaggagcaGaaggcttcagagaccccacc	11	5	14	11	0	1	3	1	0	0	3	2	7	2	4	4	4	1	2	4	4	1	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:14023373G>C	ENST00000318003.7	+	4	586	c.345G>C	c.(343-345)caG>caC	p.Q115H	CC2D1A_ENST00000589606.1_Missense_Mutation_p.Q115H	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	115					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)			GAGAGGAGCAGAAGGCTTCAG	0.602																																																	0													77	83	81					19																	14023373		2013	4188	6201	SO:0001583	missense	0			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.345G>C	19.37:g.14023373G>C	ENSP00000313601:p.Gln115His		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.Q115H	ENST00000318003.7	37	c.345	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659296	0.29515	.	.	ENSG00000132024	ENST00000318003;ENST00000389233	T	0.21932	1.98	4.35	4.35	0.52113	.	0.351400	0.25738	N	0.028621	T	0.17789	0.0427	N	0.25647	0.755	0.33582	D	0.59999	P;P	0.44946	0.846;0.761	P;B	0.44946	0.465;0.275	T	0.15809	-1.0424	10	0.48119	T	0.1	-10.9473	10.3061	0.43680	0.0:0.2004:0.7996:0.0	.	115;115	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	H	115;90	ENSP00000313601:Q115H	ENSP00000313601:Q115H	Q	+	3	2	CC2D1A	13884373	1.000000	0.71417	0.991000	0.47740	0.386000	0.30323	2.136000	0.42121	2.277000	0.76020	0.650000	0.86243	CAG	CC2D1A	-	NULL	ENSG00000132024		0.602	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	-	0	18	0	G	NM_017721		14023373	1	tier1	-	no_errors	ENST00000318003	ensembl	human	known	74_37	missense	71.43	2	5	SNP	0.998	C	C	14023373	G	C	14023373	3	2	174	1	0	0	0	0	1	0	0	0	2733	933	33	5	359	5	CC2D1A	19	14023373	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	5019785	14023373	45105610	191	43715											
JAK3	3718	genome.wustl.edu	37	chr19	17937609	17937609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagcagtgaaggcatgagtCtcacacccccggcttccgct	8	8	11	14	2	1	3	1	3	1	0	3	3	2	3	3	2	1	4	3	2	1	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:17937609C>G	ENST00000527670.1	-	23	3347	c.3318G>C	c.(3316-3318)gaG>gaC	p.E1106D	JAK3_ENST00000458235.1_Missense_Mutation_p.E1106D			P52333	JAK3_HUMAN	Janus kinase 3	1106	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGGCATGAGTCTCACACCCCC	0.612		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													157	134	142					19																	17937609		2203	4300	6503	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3318G>C	19.37:g.17937609C>G	ENSP00000432511:p.Glu1106Asp		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1106D	ENST00000527670.1	37	c.3318	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	C	4.630	0.117083	0.08881	.	.	ENSG00000105639	ENST00000458235;ENST00000527670	T;T	0.75477	-0.94;-0.94	1.52	1.52	0.23074	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.50616	0.1626	N	0.17474	0.49	0.09310	N	1	B	0.27416	0.178	B	0.16722	0.016	T	0.30238	-0.9985	9	0.12430	T	0.62	.	6.5047	0.22188	0.0:1.0:0.0:0.0	.	1106	P52333	JAK3_HUMAN	D	1106	ENSP00000391676:E1106D;ENSP00000432511:E1106D	ENSP00000391676:E1106D	E	-	3	2	JAK3	17798609	0.000000	0.05858	0.045000	0.18777	0.119000	0.20118	0.447000	0.21710	1.155000	0.42497	0.313000	0.20887	GAG	JAK3	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000105639		0.612	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	-	0	42	0	C	NM_000215		17937609	-1	tier1	-	no_errors	ENST00000458235	ensembl	human	known	74_37	missense	19.51	33	8	SNP	0.249	G	G	17937609	C	G	17937609	3	3	174	1	0	0	0	0	1	0	0	0	7966	912	32	5	60	5	JAK3	19	17937609	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	3914236	17937609	41191374	192	43716											
PDE4C	5143	genome.wustl.edu	37	chr19	18322638	18322638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcccgactcacgctcGcggtctccctgctggaagaa	7	7	11	16	4	2	1	1	0	1	1	5	3	3	2	3	3	1	2	3	3	2	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:18322638G>A	ENST00000355502.3	-	18	2593	c.1722C>T	c.(1720-1722)cgC>cgT	p.R574R	PDE4C_ENST00000594465.3_Silent_p.R574R|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Silent_p.R343R|PDE4C_ENST00000262805.12_Silent_p.R542R|PDE4C_ENST00000597297.1_Silent_p.R344R|PDE4C_ENST00000447275.3_Silent_p.R468R|PDE4C_ENST00000598111.2_Silent_p.R289R|AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000594617.3_Silent_p.R574R			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	574					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	ACTCACGCTCGCGGTCTCCCT	0.627																																																	0													112	94	100					19																	18322638		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1722C>T	19.37:g.18322638G>A			B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R574	ENST00000355502.3	37	c.1722	CCDS12373.1	19																																																																																			PDE4C	-	pfam_PDEase_catalytic_dom,prints_PDEase	ENSG00000105650		0.627	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	-	0	26	0	G			18322638	-1	tier1	-	no_errors	ENST00000355502	ensembl	human	known	74_37	silent	21.74	18	5	SNP	0.778	A	A	18322638	G	A	18322638	2	1	174	1	0	0	0	0	0	0	0	1	11680	1074	38	1		1	PDE4C	19	18322638	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	385029	18322638	40806345	193	43717											
ZNF91	7644	genome.wustl.edu	37	chr19	23544910	23544910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacatttgtagggtttctCtccagtgtgtatcctcttat	6	19	7	9	0	3	0	1	0	2	0	6	0	5	0	2	1	0	3	2	1	3	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:23544910C>T	ENST00000300619.7	-	4	1076	c.871G>A	c.(871-873)Gag>Aag	p.E291K	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E259K	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	291					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)				TAGGGTTTCTCTCCAGTGTGT	0.383																																																	0													89	95	93					19																	23544910		2196	4291	6487	SO:0001583	missense	0			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.871G>A	19.37:g.23544910C>T	ENSP00000300619:p.Glu291Lys		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E291K	ENST00000300619.7	37	c.871	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248344	0.39697	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.24350	1.86;1.86	1.56	1.56	0.23342	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24774	0.0601	L	0.31664	0.95	0.32459	N	0.544348	D;D	0.61697	0.987;0.99	P;P	0.50405	0.507;0.64	T	0.34403	-0.9830	9	0.51188	T	0.08	.	10.0684	0.42317	0.0:1.0:0.0:0.0	.	259;291	Q05481-2;Q05481	.;ZNF91_HUMAN	K	291;259	ENSP00000300619:E291K;ENSP00000380272:E259K	ENSP00000300619:E291K	E	-	1	0	ZNF91	23336750	0.733000	0.28132	0.012000	0.15200	0.002000	0.02628	1.848000	0.39309	0.854000	0.35336	0.162000	0.16502	GAG	ZNF91	-	pfscan_Znf_C2H2	ENSG00000167232		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	-	0	99	0	C	NM_003430		23544910	-1	tier1	-	no_errors	ENST00000300619	ensembl	human	known	74_37	missense	13.79	75	12	SNP	1.000	T	T	23544910	C	T	23544910	3	4	174	1	0	0	0	0	1	0	0	0	18248	922	32	3	2708	3	ZNF91	19	23544910	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	5222272	23544910	35584073	194	43718											
APLP1	333	genome.wustl.edu	37	chr19	36370269	36370269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accccatgctgaccctggagGagcagcagctccgcgaactg	9	5	12	15	2	0	1	0	1	0	0	1	4	1	3	4	2	5	4	4	2	1	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:36370269G>A	ENST00000221891.4	+	17	2074	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	APLP1_ENST00000537454.2_Missense_Mutation_p.E588K|APLP1_ENST00000586861.1_Missense_Mutation_p.E621K|RN7SL402P_ENST00000465059.1_RNA	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	627					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACCCTGGAGGAGCAGCAGCT	0.672																																																	0													77	77	77					19																	36370269		2203	4300	6503	SO:0001583	missense	0			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1882G>A	19.37:g.36370269G>A	ENSP00000221891:p.Glu628Lys		O00113|Q96A92	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.E628K	ENST00000221891.4	37	c.1882	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.659819	0.96734	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.96830	-4.14;-4.14	5.89	5.89	0.94794	Beta-amyloid precursor protein C-terminal (1);	0.000000	0.49305	D	0.000156	D	0.97645	0.9228	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.76494	0.999;0.992;0.998;0.998	D;D;D;D	0.83275	0.996;0.92;0.969;0.953	D	0.97591	1.0117	10	0.54805	T	0.06	-24.0987	15.7619	0.78091	0.0:0.0:1.0:0.0	.	621;588;628;627	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	K	588;628	ENSP00000441501:E588K;ENSP00000221891:E628K	ENSP00000221891:E628K	E	+	1	0	APLP1	41062109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.917000	0.87498	2.793000	0.96121	0.655000	0.94253	GAG	APLP1	-	pfam_APP_amyloid_C,prints_Amyloid_glyco	ENSG00000105290		0.672	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1	-	0	80	0	G	NM_001024807		36370269	1	tier1	-	no_errors	ENST00000221891	ensembl	human	known	74_37	missense	18.52	66	15	SNP	1.000	A	A	36370269	G	A	36370269	3	1	174	1	0	0	0	0	1	0	0	0	778	1175	41	3	1948	3	APLP1	19	36370269	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	12825359	36370269	22758714	195	43719											
CKM	1158	genome.wustl.edu	37	chr19	45821144	45821144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	tgggtttgtagcccccgtggCgatccgagatgatggggtca	6	10	16	9	3	1	2	1	1	0	1	2	4	2	2	3	4	1	2	3	4	1	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:45821144C>A	ENST00000221476.3	-	3	461	c.287G>T	c.(286-288)cGc>cTc	p.R96L		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	96	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCCCCCGTGGCGATCCGAGAT	0.582																																																	0													133	107	116					19																	45821144		2203	4300	6503	SO:0001583	missense	0			M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.287G>T	19.37:g.45821144C>A	ENSP00000221476:p.Arg96Leu		Q96QL9	Missense_Mutation	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.R96L	ENST00000221476.3	37	c.287	CCDS12659.1	19	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214283	0.58452	.	.	ENSG00000104879	ENST00000221476	T	0.65364	-0.15	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.064020	0.64402	D	0.000004	T	0.69415	0.3108	M	0.86343	2.81	0.80722	D	1	P	0.37370	0.592	B	0.39152	0.292	T	0.76846	-0.2808	10	0.72032	D	0.01	-27.7907	15.0581	0.71930	0.0:1.0:0.0:0.0	.	96	P06732	KCRM_HUMAN	L	96	ENSP00000221476:R96L	ENSP00000221476:R96L	R	-	2	0	CKM	50512984	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	7.236000	0.78154	2.418000	0.82041	0.650000	0.86243	CGC	CKM	-	pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	ENSG00000104879		0.582	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKM	HGNC	protein_coding	OTTHUMT00000457569.1	-	0	74	0	C			45821144	-1	tier1	-	no_errors	ENST00000221476	ensembl	human	known	74_37	missense	17.24	48	10	SNP	1.000	A	A	45821144	C	A	45821144	3	1	174	1	0	0	0	0	1	0	0	0	3455	768	27	2	882	2	CKM	19	45821144	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	9450875	45821144	13307839	196	43720											
ACPT	93650	genome.wustl.edu	37	chr19	51294951	51294951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactttgaccgcacgctggaGagtgcccaggccaaccttgc	8	7	12	14	2	0	2	0	1	0	1	0	4	0	2	4	2	3	2	4	2	1	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:51294951G>A	ENST00000270593.1	+	4	342	c.342G>A	c.(340-342)gaG>gaA	p.E114E	ACPT_ENST00000270594.3_Intron|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	114						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCACGCTGGAGAGTGCCCAGG	0.701																																																	0													59	65	63					19																	51294951		2203	4300	6503	SO:0001819	synonymous_variant	0			AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.342G>A	19.37:g.51294951G>A			C0H3P7|Q9BZG3|Q9BZG4	Silent	SNP	pfam_His_Pase_superF_clade-2	p.E114	ENST00000270593.1	37	c.342	CCDS12802.1	19																																																																																			ACPT	-	pfam_His_Pase_superF_clade-2	ENSG00000142513		0.701	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACPT	HGNC	protein_coding	OTTHUMT00000464434.1	-	0	67	0	G	NM_033068		51294951	1	tier1	-	no_errors	ENST00000270593	ensembl	human	novel	74_37	silent	15.69	43	8	SNP	1.000	A	A	51294951	G	A	51294951	2	1	174	1	0	0	0	0	0	0	0	1	168	933	33	3		3	ACPT	19	51294951	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	5473807	51294951	7834032	197	43721											
SIGLEC5	8778	genome.wustl.edu	37	chr19	52133213	52133213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctcagggagcagttcttCttctggacatccccaaggag	9	10	11	11	0	4	0	1	0	3	0	5	3	5	3	2	3	2	3	2	3	1	3	rs374509897	byFrequency	TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:52133213C>G	ENST00000534261.2	-	3	693	c.294G>C	c.(292-294)aaG>aaC	p.K98N	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.K98N|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.K98N			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	98	Ig-like V-type.				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)		AGCAGTTCTTCTTCTGGACAT	0.532													C|||	27	0.00539137	0	0	5008	,	,		16835	0.0268		0	False		,,,				2504	0																0								C	ASN/LYS	4,4060		0,4,2028	25	22	23		294	-1.3	0	19		23	0,7970		0,0,3985	no	missense	SIGLEC5	NM_003830.2	94	0,4,6013	GG,GC,CC		0.0,0.0984,0.0332	benign	98/552	52133213	4,12030	2032	3985	6017	SO:0001583	missense	0			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.294G>C	19.37:g.52133213C>G	ENSP00000473238:p.Lys98Asn			Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K98N	ENST00000534261.2	37	c.294	CCDS33088.1	19	.	.	.	.	.	.	.	.	.	.	C	2.785	-0.252557	0.05829	9.84E-4	0.0	ENSG00000105501	ENST00000429354	T	0.66460	-0.21	3.93	-1.28	0.09318	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.596940	0.01585	N	0.021286	T	0.51941	0.1704	N	0.26042	0.785	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27938	-1.0059	10	0.17369	T	0.5	.	8.5221	0.33282	0.0:0.3167:0.5355:0.1477	.	98	O15389	SIGL5_HUMAN	N	98	ENSP00000415200:K98N	ENSP00000415200:K98N	K	-	3	2	SIGLEC5	56825025	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.608000	0.05641	0.105000	0.17753	-1.373000	0.01185	AAG	SIGLEC5	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000105501		0.532	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SIGLEC5	HGNC	protein_coding	OTTHUMT00000466897.2	-	0	18	0	C	NM_003830		52133213	-1	tier1	-	no_errors	ENST00000570106	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.000	G	G	52133213	C	G	52133213	3	3	174	1	0	0	0	0	1	0	0	0	14356	912	32	5	1393	5	SIGLEC5	19	52133213	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	838262	52133213	6995770	198	43722											
NLRP12	91662	genome.wustl.edu	37	chr19	54308650	54308650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaaattcttattggctatGagagctgcagagaggtcctc	10	12	11	8	0	2	2	1	1	1	2	4	4	3	2	1	2	2	3	1	2	3	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:54308650G>A	ENST00000324134.6	-	5	2466	c.2298C>T	c.(2296-2298)ctC>ctT	p.L766L	NLRP12_ENST00000351894.4_Silent_p.L766L|NLRP12_ENST00000354278.3_Silent_p.L766L|NLRP12_ENST00000391772.1_Silent_p.L767L|NLRP12_ENST00000391773.1_Silent_p.L767L|NLRP12_ENST00000345770.5_Silent_p.L767L|NLRP12_ENST00000391775.3_Silent_p.L766L|NLRP12_ENST00000535162.1_Silent_p.L766L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	766					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)		TATTGGCTATGAGAGCTGCAG	0.557																																																	0													113	111	112					19																	54308650		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2298C>T	19.37:g.54308650G>A			A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L766	ENST00000324134.6	37	c.2298	CCDS12864.1	19																																																																																			NLRP12	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000142405		0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	-	0	33	0	G	NM_144687		54308650	-1	tier1	-	no_errors	ENST00000324134	ensembl	human	known	74_37	silent	40.00	15	10	SNP	0.007	A	A	54308650	G	A	54308650	2	1	174	1	0	0	0	0	0	0	0	1	10513	1277	45	3		3	NLRP12	19	54308650	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	2175437	54308650	4820333	199	43723											
NLRP7	199713	genome.wustl.edu	37	chr19	55450647	55450647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtcctacttgaatcaggtCggggttcttgagtctttctt	5	17	11	8	1	4	2	1	2	3	0	6	2	5	2	1	3	1	1	1	3	2	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:55450647C>T	ENST00000590030.1	-	3	1580	c.1540G>A	c.(1540-1542)Gac>Aac	p.D514N	NLRP7_ENST00000588756.1_Missense_Mutation_p.D514N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D514N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D514N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D542N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D514N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D514N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	514							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)		TGAATCAGGTCGGGGTTCTTG	0.577																																																	0													83	83	83					19																	55450647		2203	4300	6503	SO:0001583	missense	0			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.1540G>A	19.37:g.55450647C>T	ENSP00000465520:p.Asp514Asn		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D542N	ENST00000590030.1	37	c.1624	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	C	8.228	0.804092	0.16467	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.74002	-0.73;-0.73;-0.8;-0.76	2.34	-3.9	0.04181	.	1.976990	0.02773	N	0.119938	T	0.52597	0.1744	L	0.39397	1.21	0.09310	N	1	P;P;P;P	0.45715	0.669;0.669;0.669;0.865	B;B;B;B	0.31390	0.061;0.061;0.061;0.129	T	0.52403	-0.8580	10	0.16896	T	0.51	.	1.5454	0.02564	0.1773:0.4184:0.179:0.2253	.	542;514;514;514	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	514;514;514;542;281	ENSP00000329568:D514N;ENSP00000409137:D514N;ENSP00000339491:D514N;ENSP00000414273:D542N	ENSP00000329568:D514N	D	-	1	0	NLRP7	60142459	0.000000	0.05858	0.009000	0.14445	0.070000	0.16714	-3.138000	0.00587	-1.245000	0.02513	-0.379000	0.06801	GAC	NLRP7	-	NULL	ENSG00000167634		0.577	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	-	0	39	0	C	NM_139176		55450647	-1	tier1	-	no_errors	ENST00000446217	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.044	T	T	55450647	C	T	55450647	3	4	174	1	0	0	0	0	1	0	0	0	10521	884	31	1	1605	1	NLRP7	19	55450647	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	1141997	55450647	3678336	200	43724											
NLRP9	338321	genome.wustl.edu	37	chr19	56223887	56223887	+	Frame_Shift_Del	DEL	T	T	-																															ccaagtttcagggtcttcagTttcccattgcaaataagaac																										TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr19:56223887delT	ENST00000332836.2	-	7	2598	c.2571delA	c.(2569-2571)aaafs	p.K857fs	CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	857						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)		GGGTCTTCAGTTTCCCATTGC	0.453																																																	0													101	93	96					19																	56223887		2199	4293	6492	SO:0001589	frameshift_variant	0			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.2571delA	19.37:g.56223887delT	ENSP00000331857:p.Lys857fs		B2RN12|Q86W27	Frame_Shift_Del	DEL	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K857fs	ENST00000332836.2	37	c.2571	CCDS12934.1	19																																																																																			NLRP9	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000185792		0.453	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1		0	24	0	T	NM_176820		56223887	-1	tier1		no_errors	ENST00000332836	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	0.000	-	-	56223887	T	-	56223887	7	5	174	1	0	1	0	1	0	0	0	0	10523	1722	60	0	416	0	NLRP9	19	56223887	Frame_Shift_Del	DEL	T	TCGA-VR-AA7B-01A-31D-A403-09	773240	56223887	2905096	201	43725											
ANGPT4	51378	genome.wustl.edu	37	chr20	858914	858914	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtaggctgcccttctggtGagctggtgcaccacttcatt	6	12	12	11	0	2	1	1	1	1	0	2	2	2	1	2	3	3	4	2	3	1	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr20:858914G>A	ENST00000381922.3	-	7	1212	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	ANGPT4_ENST00000546022.1_Silent_p.L370L	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	370	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CCCTTCTGGTGAGCTGGTGCA	0.612																																					Pancreas(181;481 2077 3259 31286 49856)												0													53	45	47					20																	858914		2203	4300	6503	SO:0001819	synonymous_variant	0			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1110C>T	20.37:g.858914G>A			B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.L370	ENST00000381922.3	37	c.1110	CCDS13009.1	20																																																																																			ANGPT4	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000101280		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	-	0	21	0	G	NM_015985		858914	-1	tier1	-	no_errors	ENST00000381922	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.998	A	A	858914	G	A	858914	2	1	174	1	0	0	0	0	0	0	0	1	612	1277	45	3		3	ANGPT4	20	858914	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09		858914	62166606	202	43726											
CRLS1	54675	genome.wustl.edu	37	chr20	6011944	6011944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcagttccacttacttaCatgatcatttcgagagatgt	10	17	6	8	1	2	2	2	1	0	1	4	4	3	2	1	0	2	1	1	0	2	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr20:6011944C>T	ENST00000378863.4	+	4	745	c.588C>T	c.(586-588)taC>taT	p.Y196Y	CRLS1_ENST00000378868.4_Silent_p.Y97Y|CRLS1_ENST00000464921.1_3'UTR|CRLS1_ENST00000452938.1_Intron	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	196					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			lung(3)|ovary(1)	4						CACTTACTTACATGATCATTT	0.318																																																	0													149	131	137					20																	6011944		2203	4299	6502	SO:0001819	synonymous_variant	0			AF241784	CCDS13096.1, CCDS46578.1	20p13-p12.3	2006-04-04	2006-04-04	2006-04-04	ENSG00000088766	ENSG00000088766			16148	protein-coding gene	gene with protein product	"GCD10 homolog (S. cerevisiae)"	608188	"chromosome 20 open reading frame 155"	C20orf155		16547353	Standard	NM_019095		Approved	dJ967N21.6, CLS1, GCD10	uc002wmn.4	Q9UJA2	OTTHUMG00000031823	ENST00000378863.4:c.588C>T	20.37:g.6011944C>T			D3DW09|E9PAT4|Q27RP0|Q69YQ5	Silent	SNP	pfam_CDP-OH_P_trans	p.Y196	ENST00000378863.4	37	c.588	CCDS13096.1	20																																																																																			CRLS1	-	NULL	ENSG00000088766		0.318	CRLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLS1	HGNC	protein_coding	OTTHUMT00000077902.2	-	0	50	0	C	NM_019095		6011944	1	tier1	-	no_errors	ENST00000378863	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.982	T	T	6011944	C	T	6011944	2	4	174	1	0	0	0	0	0	0	0	1	3896	489	17	3		3	CRLS1	20	6011944	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	5153030	6011944	57013576	203	43727											
C20orf112	140688	genome.wustl.edu	37	chr20	31041537	31041537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctcggtcttgatggaatCgtagctcccagagctgtagg	8	10	13	10	2	1	2	0	1	1	1	4	4	2	3	2	3	2	4	2	3	3	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr20:31041537C>T	ENST00000359676.5	-	4	557	c.415G>A	c.(415-417)Gat>Aat	p.D139N	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		139						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						TTGATGGAATCGTAGCTCCCA	0.627																																																	0													38	32	34					20																	31041537		2173	4253	6426	SO:0001583	missense	0																														ENST00000359676.5:c.415G>A	20.37:g.31041537C>T	ENSP00000352704:p.Asp139Asn		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	NULL	p.D139N	ENST00000359676.5	37	c.415	CCDS13202.1	20	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695930	0.68386	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	5.04	5.04	0.67666	.	0.050000	0.85682	N	0.000000	T	0.76285	0.3966	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.78114	-0.2330	9	0.72032	D	0.01	-42.2217	18.5567	0.91088	0.0:1.0:0.0:0.0	.	139	Q96MY1	CT112_HUMAN	N	139	.	ENSP00000352704:D139N	D	-	1	0	C20orf112	30505198	1.000000	0.71417	0.998000	0.56505	0.743000	0.42351	7.315000	0.78998	2.615000	0.88500	0.462000	0.41574	GAT	C20orf112	-	NULL	ENSG00000197183		0.627	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2	-	0	43	0	C			31041537	-1	tier1	-	no_errors	ENST00000359676	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	T	T	31041537	C	T	31041537	3	4	174	1	0	0	0	0	1	0	0	0	2088	884	31	1	915	1	C20orf112	20	31041537	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	25029593	31041537	31983983	204	43728											
PLCG1	5335	genome.wustl.edu	37	chr20	39795158	39795158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcacaggctgagcacatGctaatgcgcgtccctcgtga	10	7	12	12	3	0	3	0	2	0	1	2	3	1	3	1	1	4	4	1	1	1	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr20:39795158G>T	ENST00000373271.1	+	18	2448	c.2043G>T	c.(2041-2043)atG>atT	p.M681I	PLCG1_ENST00000244007.3_Missense_Mutation_p.M681I|PLCG1_ENST00000373272.2_Missense_Mutation_p.M681I	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	681	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)				CTGAGCACATGCTAATGCGCG	0.622																																																	0													88	75	79					20																	39795158		2203	4300	6503	SO:0001583	missense	0			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.2043G>T	20.37:g.39795158G>T	ENSP00000362368:p.Met681Ile		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.M681I	ENST00000373271.1	37	c.2043	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857536	0.32791	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	D;D;D	0.88124	-2.34;-2.34;-2.34	5.7	4.76	0.60689	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (5);	0.035187	0.85682	N	0.000000	D	0.89649	0.6776	L	0.37750	1.13	0.80722	D	1	P;D;P;P	0.62365	0.504;0.991;0.746;0.559	B;D;B;B	0.74023	0.21;0.982;0.231;0.314	D	0.89149	0.3522	10	0.39692	T	0.17	.	15.0425	0.71803	0.0685:0.0:0.9315:0.0	.	681;257;681;681	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	I	681	ENSP00000244007:M681I;ENSP00000362368:M681I;ENSP00000362369:M681I	ENSP00000244007:M681I	M	+	3	0	PLCG1	39228572	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.708000	0.68377	1.552000	0.49463	-0.140000	0.14226	ATG	PLCG1	-	pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2,prints_SH2	ENSG00000124181		0.622	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	-	0	17	0	G	NM_182811		39795158	1	tier1	-	no_errors	ENST00000244007	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	T	T	39795158	G	T	39795158	3	4	174	1	0	0	0	0	1	0	0	0	12074	1319	46	3	2113	3	PLCG1	20	39795158	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	8753621	39795158	23230362	205	43729											
UPB1	51733	genome.wustl.edu	37	chr22	24896222	24896222	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacagaatccccctcccCgcaaatgcccctgtggcaga	11	5	8	17	1	0	3	0	0	0	3	2	3	2	3	6	1	2	2	6	1	3	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr22:24896222C>A	ENST00000326010.5	+	2	596	c.252C>A	c.(250-252)ccC>ccA	p.P84P	UPB1_ENST00000382760.2_Silent_p.P84P|UPB1_ENST00000413389.2_Intron	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	84	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TCCCCCTCCCCGCAAATGCCC	0.562																																																	0													63	67	66					22																	24896222		2203	4300	6503	SO:0001819	synonymous_variant	0			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.252C>A	22.37:g.24896222C>A			A3KMF8|Q9UIR3	Silent	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.P84	ENST00000326010.5	37	c.252	CCDS13827.1	22																																																																																			UPB1	-	superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	ENSG00000100024		0.562	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPB1	HGNC	protein_coding	OTTHUMT00000319869.1	-	0	20	0	C			24896222	1	tier1	-	no_errors	ENST00000326010	ensembl	human	known	74_37	silent	47.62	11	10	SNP	0.001	A	A	24896222	C	A	24896222	2	1	174	1	0	0	0	0	0	0	0	1	17051	639	23	2		2	UPB1	22	24896222	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09		24896222	26408344	206	43730											
SGSM1	129049	genome.wustl.edu	37	chr22	25280128	25280128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	cgatgctggacagggactgaCagccaggatctgggagcagt	10	6	16	9	1	1	1	0	1	1	0	1	6	1	5	1	4	3	2	1	4	0	0			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr22:25280128C>A	ENST00000400359.4	+	16	1776	c.1769C>A	c.(1768-1770)aCa>aAa	p.T590K	SGSM1_ENST00000400358.4_Missense_Mutation_p.T535K	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	590						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						CAGGGACTGACAGCCAGGATC	0.557																																																	0													69	69	69					22																	25280128		2044	4188	6232	SO:0001583	missense	0			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.1769C>A	22.37:g.25280128C>A	ENSP00000383212:p.Thr590Lys		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.T590K	ENST00000400359.4	37	c.1769	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719684	0.89205	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.09163	3.05;3.01	5.39	5.39	0.77823	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.25344	0.0616	L	0.49640	1.575	0.80722	D	1	D;D;D;D	0.63046	0.966;0.992;0.974;0.992	P;P;P;P	0.58620	0.772;0.711;0.842;0.84	T	0.00086	-1.2096	10	0.52906	T	0.07	-2.7798	18.5878	0.91197	0.0:1.0:0.0:0.0	.	535;651;668;590	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	K	651;535;590	ENSP00000383211:T535K;ENSP00000383212:T590K	ENSP00000383211:T535K	T	+	2	0	SGSM1	23610128	1.000000	0.71417	0.968000	0.41197	0.739000	0.42172	5.630000	0.67805	2.708000	0.92522	0.638000	0.83543	ACA	SGSM1	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000167037		0.557	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	-	0	36	0	C	XM_059318		25280128	1	tier1	-	no_errors	ENST00000400359	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	A	A	25280128	C	A	25280128	3	1	174	1	0	0	0	0	1	0	0	0	14267	478	17	3	1831	3	SGSM1	22	25280128	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	383906	25280128	26024438	207	43731											
LRP5L	91355	genome.wustl.edu	37	chr22	25750717	25750717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccagcagggtgaacctGaaaatgtgtgggagcttgtc	9	9	13	10	0	0	2	0	2	0	0	2	3	1	3	3	2	3	2	3	2	3	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr22:25750717G>T	ENST00000402785.2	-	3	597	c.501C>A	c.(499-501)ttC>ttA	p.F167L	LRP5L_ENST00000444995.3_Missense_Mutation_p.F167L|LRP5L_ENST00000402859.2_Missense_Mutation_p.F167L			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	167					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GGGTGAACCTGAAAATGTGTG	0.567																																																	0													167	145	152					22																	25750717		2200	4300	6500	SO:0001583	missense	0			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.501C>A	22.37:g.25750717G>T	ENSP00000384562:p.Phe167Leu		B0QYF3|B0QYF4|B2RPI5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	p.F167L	ENST00000402785.2	37	c.501	CCDS33626.1	22	.	.	.	.	.	.	.	.	.	.	g	12.62	1.991389	0.35131	.	.	ENSG00000100068	ENST00000402859;ENST00000444995;ENST00000402785	D;D;D	0.91124	-2.79;-2.79;-2.79	2.44	-1.96	0.07525	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.94165	0.8128	M	0.87097	2.86	0.49582	D	0.999807	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.91544	0.5252	9	0.87932	D	0	.	7.3755	0.26825	0.7215:0.0:0.2785:0.0	.	167;167	A4QPB2-2;A4QPB2	.;LRP5L_HUMAN	L	167	ENSP00000384291:F167L;ENSP00000407283:F167L;ENSP00000384562:F167L	ENSP00000384562:F167L	F	-	3	2	LRP5L	24080717	0.994000	0.37717	0.991000	0.47740	0.040000	0.13550	0.356000	0.20181	-0.372000	0.07992	0.194000	0.17425	TTC	LRP5L	-	smart_LDLR_classB_rpt	ENSG00000100068		0.567	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5L	HGNC	protein_coding	OTTHUMT00000320477.2	-	0	66	0	G	NM_182492		25750717	-1	tier1	-	no_errors	ENST00000402785	ensembl	human	known	74_37	missense	46.15	35	30	SNP	1.000	T	T	25750717	G	T	25750717	3	4	174	1	0	0	0	0	1	0	0	0	8996	1281	45	3	265	3	LRP5L	22	25750717	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	470589	25750717	25553849	208	43732											
ZNRF3	84133	genome.wustl.edu	37	chr22	29446744	29446744	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcggctcctggggtgggacgCgaggcccggataccccacgg	5	5	17	14	5	0	0	0	0	0	0	2	3	1	2	4	7	1	1	4	7	1	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr22:29446744C>T	ENST00000544604.2	+	8	2750	c.2575C>T	c.(2575-2577)Cga>Tga	p.R859*	ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.R759*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.R759*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.R759*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	859					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGGTGGGACGCGAGGCCCGGA	0.697																																																	0													11	13	12					22																	29446744		1901	4105	6006	SO:0001587	stop_gained	0			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2575C>T	22.37:g.29446744C>T	ENSP00000443824:p.Arg859*		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R859*	ENST00000544604.2	37	c.2575	CCDS56225.1	22	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046598	0.75846	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	.	.	.	5.61	3.44	0.39384	.	1.507060	0.04173	N	0.325138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	0.1821	8.5855	0.33655	0.0:0.74:0.0:0.26	.	.	.	.	X	859;759;566;759;759	.	ENSP00000328614:R759X	R	+	1	2	ZNRF3	27776744	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.456000	0.21859	0.662000	0.31006	-0.345000	0.07892	CGA	ZNRF3	-	NULL	ENSG00000183579		0.697	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF3	HGNC	protein_coding	OTTHUMT00000320943.2	-	0	76	0	C	XM_290972		29446744	1	tier1	-	no_errors	ENST00000544604	ensembl	human	known	74_37	nonsense	44.29	39	31	SNP	0.001	T	T	29446744	C	T	29446744	4	4	174	1	0	0	0	0	0	1	0	0	18261	760	27	1	2301	1	ZNRF3	22	29446744	Nonsense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	3696027	29446744	21857822	209	43733											
TCN2	6948	genome.wustl.edu	37	chr22	31019043	31019043	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagttctggcagcttctcCgagaccccaacaccccactg	8	7	10	16	1	2	1	0	0	2	1	3	3	2	2	5	2	2	3	5	2	1	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr22:31019043C>T	ENST00000215838.3	+	8	1689	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	TCN2_ENST00000407817.3_Nonsense_Mutation_p.R372*|TCN2_ENST00000405742.3_Nonsense_Mutation_p.R395*			P20062	TCO2_HUMAN	transcobalamin II	399			R -> Q (in dbSNP:rs4820889).		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)	GCAGCTTCTCCGAGACCCCAA	0.552																																																	0													80	77	78					22																	31019043		2203	4300	6503	SO:0001587	stop_gained	0				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.1195C>T	22.37:g.31019043C>T	ENSP00000215838:p.Arg399*		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Nonsense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.R399*	ENST00000215838.3	37	c.1195	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309620	0.60414	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	.	.	.	5.51	3.29	0.37713	.	0.388191	0.27961	N	0.017159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6284	11.782	0.52020	0.3185:0.6815:0.0:0.0	.	.	.	.	X	399;395;372	.	ENSP00000215838:R399X	R	+	1	2	TCN2	29349043	0.495000	0.26051	0.963000	0.40424	0.019000	0.09904	1.018000	0.30002	1.317000	0.45149	0.585000	0.79938	CGA	TCN2	-	NULL	ENSG00000185339		0.552	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2	-	0	67	0	C	NM_000355		31019043	1	tier1	-	no_errors	ENST00000215838	ensembl	human	known	74_37	nonsense	11.54	46	6	SNP	1.000	T	T	31019043	C	T	31019043	4	4	174	1	0	0	0	0	0	1	0	0	15754	644	23	1	1225	1	TCN2	22	31019043	Nonsense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	1572299	31019043	20285523	210	43734											
C22orf30	253143	genome.wustl.edu	37	chr22	32112599	32112599	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaaagaaaaggtccacctCtttcactcctaggaatcaaa	17	9	5	10	0	3	1	2	0	1	1	5	2	5	2	3	2	0	0	3	2	8	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr22:32112599C>G	ENST00000327423.6	-	4	1415	c.1226G>C	c.(1225-1227)aGa>aCa	p.R409T	PRR14L_ENST00000434485.1_Missense_Mutation_p.R409T|PRR14L_ENST00000461722.1_5'Flank|PRR14L_ENST00000397493.2_Missense_Mutation_p.R409T	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	409										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AGGTCCACCTCTTTCACTCCT	0.408																																																	0													30	27	27					22																	32112599		692	1591	2283	SO:0001583	missense	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.1226G>C	22.37:g.32112599C>G	ENSP00000331845:p.Arg409Thr		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.R409T	ENST00000327423.6	37	c.1226	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	C	9.208	1.030155	0.19512	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.09445	2.98;3.0;2.98	4.77	0.12	0.14691	.	0.525146	0.18061	N	0.152947	T	0.09555	0.0235	L	0.51422	1.61	0.09310	N	1	P;P;P	0.36535	0.557;0.557;0.557	B;B;B	0.41860	0.368;0.167;0.368	T	0.17837	-1.0356	9	.	.	.	-4.3792	0.6429	0.00813	0.186:0.3703:0.1819:0.2619	.	409;409;409	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	T	409	ENSP00000380630:R409T;ENSP00000331845:R409T;ENSP00000388314:R409T	.	R	-	2	0	PRR14L	30442599	0.000000	0.05858	0.025000	0.17156	0.023000	0.10783	-0.515000	0.06290	0.148000	0.19059	0.650000	0.86243	AGA	PRR14L	-	NULL	ENSG00000183530		0.408	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	-	0	73	0	C	NM_173566		32112599	-1	tier1	-	no_errors	ENST00000397493	ensembl	human	known	74_37	missense	18.48	75	17	SNP	0.004	G	G	32112599	C	G	32112599	3	3	174	1	0	0	0	0	1	0	0	0	2149	913	32	5	5253	5	C22orf30	22	32112599	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	1093556	32112599	19191967	211	43735											
DEPDC5	9681	genome.wustl.edu	37	chr22	32215189	32215189	+	Silent	SNP	C	C	T	0	0	0	1	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	cttacgtccaacagaaggcgCtggatgcacacttttcctgt	9	11	9	12	2	0	1	0	0	0	1	2	2	2	2	2	2	3	2	2	2	3	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr22:32215189C>T	ENST00000382112.3	+	21	1918	c.1848C>T	c.(1846-1848)cgC>cgT	p.R616R	DEPDC5_ENST00000382111.2_Silent_p.R616R|DEPDC5_ENST00000535622.1_Silent_p.R616R|DEPDC5_ENST00000382105.2_Silent_p.R616R|DEPDC5_ENST00000536766.1_Silent_p.R588R|DEPDC5_ENST00000266091.3_Silent_p.R616R|DEPDC5_ENST00000400246.1_Silent_p.R616R|DEPDC5_ENST00000400248.2_Silent_p.R616R|DEPDC5_ENST00000400249.2_Silent_p.R616R	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	616					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACAGAAGGCGCTGGATGCACA	0.557																																																	0													110	108	109					22																	32215189		2009	4184	6193	SO:0001819	synonymous_variant	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1848C>T	22.37:g.32215189C>T			A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.R616	ENST00000382112.3	37	c.1848	CCDS46692.1	22																																																																																			DEPDC5	-	NULL	ENSG00000100150		0.557	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	-	0	31	0	C	NM_014662		32215189	1	tier1	-	no_errors	ENST00000266091	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.943	T	T	32215189	C	T	32215189	2	4	174	1	0	0	0	0	0	0	0	1	4456	784	28	3		3	DEPDC5	22	32215189	Silent	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	102590	32215189	19089377	212	43736											
RFPL2	10739	genome.wustl.edu	37	chr22	32587270	32587270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgtctgatgcgcccacttCggacgctcctgaggtcgtca	5	11	11	14	4	3	2	1	2	2	0	6	3	4	3	2	2	1	1	2	2	0	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr22:32587270C>T	ENST00000400237.1	-	5	1561	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	RFPL2_ENST00000248983.4_Missense_Mutation_p.R119Q|RFPL2_ENST00000400236.3_Missense_Mutation_p.R119Q|RFPL2_ENST00000248980.4_Missense_Mutation_p.R148Q|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	209	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						GCGCCCACTTCGGACGCTCCT	0.532																																																	0													129	118	122					22																	32587270		2203	4300	6503	SO:0001583	missense	0			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.626G>A	22.37:g.32587270C>T	ENSP00000383096:p.Arg209Gln			Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.R209Q	ENST00000400237.1	37	c.626	CCDS43009.2	22	.	.	.	.	.	.	.	.	.	.	C	6.203	0.405544	0.11754	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	0.351	-0.702	0.11265	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.11281	0.0275	L	0.48260	1.515	0.09310	N	1	P;P	0.50710	0.938;0.728	B;B	0.42522	0.39;0.105	T	0.16424	-1.0403	9	0.46703	T	0.11	.	4.5359	0.12028	0.0:0.6821:0.0:0.3179	.	209;148	O75678;O75678-3	RFPL2_HUMAN;.	Q	148;119;119;209	ENSP00000248980:R148Q;ENSP00000248983:R119Q;ENSP00000383095:R119Q;ENSP00000383096:R209Q	ENSP00000248980:R148Q	R	-	2	0	RFPL2	30917270	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.374000	0.20501	-0.502000	0.06596	-0.490000	0.04691	CGA	RFPL2	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000128253		0.532	RFPL2-001	KNOWN	basic|CCDS	protein_coding	RFPL2	HGNC	protein_coding	OTTHUMT00000075262.2	-	0	73	0	C	NM_006605		32587270	-1	tier1	-	no_errors	ENST00000400237	ensembl	human	known	74_37	missense	57.78	38	52	SNP	0.015	T	T	32587270	C	T	32587270	3	4	174	1	0	0	0	0	1	0	0	0	13299	884	31	1	514	1	RFPL2	22	32587270	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	372081	32587270	18717296	213	43737											
ELFN2	114794	genome.wustl.edu	37	chr22	37769180	37769180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	atgcagatcctcgtccttggCgaactggaccttcttgcgca	7	11	10	13	3	1	1	0	0	1	1	4	3	3	2	3	2	3	2	3	2	1	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr22:37769180C>T	ENST00000402918.2	-	3	3180	c.2395G>A	c.(2395-2397)Gcc>Acc	p.A799T	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	799					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)					TCGTCCTTGGCGAACTGGACC	0.632																																																	0													96	87	90					22																	37769180		2203	4300	6503	SO:0001583	missense	0			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.2395G>A	22.37:g.37769180C>T	ENSP00000385277:p.Ala799Thr		Q96PY3	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor	p.A799T	ENST00000402918.2	37	c.2395	CCDS33642.1	22	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573500	0.86542	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.70399	-0.48;-0.48	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.82614	0.5075	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85059	0.0933	10	0.87932	D	0	-21.9554	17.8461	0.88730	0.0:1.0:0.0:0.0	.	799	Q5R3F8	PPR29_HUMAN	T	799	ENSP00000300147:A799T;ENSP00000385277:A799T	ENSP00000300147:A799T	A	-	1	0	ELFN2	36099126	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.623000	0.83113	2.265000	0.75225	0.561000	0.74099	GCC	ELFN2	-	NULL	ENSG00000166897		0.632	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	-	0	51	0	C	NM_052906		37769180	-1	tier1	-	no_errors	ENST00000402918	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	T	T	37769180	C	T	37769180	3	4	174	1	0	0	0	0	1	0	0	0	5074	768	27	1	71	1	ELFN2	22	37769180	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	5181910	37769180	13535386	214	43738											
KIAA1644	85352	genome.wustl.edu	37	chr22	44681532	44681532	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtagaccttgcagatgtcGtagttcattgccgagtaata	11	12	11	7	2	1	2	1	0	0	2	2	3	1	2	2	1	2	5	2	1	4	7	rs201344135		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chr22:44681532G>T	ENST00000381176.4	-	4	507	c.375C>A	c.(373-375)taC>taA	p.Y125*		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	125						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGCAGATGTCGTAGTTCATTG	0.572																																																	0													172	167	169					22																	44681532		2040	4205	6245	SO:0001587	stop_gained	0			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.375C>A	22.37:g.44681532G>T	ENSP00000370568:p.Tyr125*		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Nonsense_Mutation	SNP	NULL	p.Y125*	ENST00000381176.4	37	c.375	CCDS43025.1	22	.	.	.	.	.	.	.	.	.	.	G	37	5.999824	0.97189	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.06	2.98	0.34508	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.4491	5.5695	0.17188	0.3048:0.0:0.6952:0.0	.	.	.	.	X	125	.	ENSP00000370568:Y125X	Y	-	3	2	KIAA1644	43012865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.156000	0.42310	1.125000	0.41998	0.561000	0.74099	TAC	KIAA1644	-	NULL	ENSG00000138944		0.572	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1644	HGNC	protein_coding	OTTHUMT00000075879.2	-	0	63	0	G	NM_001099294		44681532	-1	tier1	-	no_errors	ENST00000381176	ensembl	human	putative	74_37	nonsense	6.15	61	4	SNP	1.000	T	T	44681532	G	T	44681532	4	4	174	1	0	0	0	0	0	1	0	0	8277	1140	40	2	232	2	KIAA1644	22	44681532	Nonsense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	6912352	44681532	6623034	215	43739											
MXRA5	25878	genome.wustl.edu	37	chrX	3248082	3248082	+	Frame_Shift_Del	DEL	A	A	-																															tggattttgcatcccattccAaaaaccatctcatctcacaa																										TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:3248082delA	ENST00000217939.6	-	4	840	c.686delT	c.(685-687)ttgfs	p.L229fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	229	LRRCT.					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)				ATCCCATTCCAAAAACCATCT	0.468																																																	0													55	53	54					X																	3248082		2203	4300	6503	SO:0001589	frameshift_variant	0			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.686delT	X.37:g.3248082delA	ENSP00000217939:p.Leu229fs		Q6P1M7|Q9Y3Y8	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L229fs	ENST00000217939.6	37	c.686	CCDS14124.1	X																																																																																			MXRA5	-	smart_Cys-rich_flank_reg_C	ENSG00000101825		0.468	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2		0	75	0	A	NM_015419		3248082	-1	tier1		no_errors	ENST00000217939	ensembl	human	known	74_37	frame_shift_del	11.11	32	4	DEL	0.193	-	-	3248082	A	-	3248082	7	5	174	1	0	1	0	1	0	0	0	0	10041	131	5	0	7816	0	MXRA5	23	3248082	Frame_Shift_Del	DEL	A	TCGA-VR-AA7B-01A-31D-A403-09		3248082	152022478	216	43740											
FANCB	2187	genome.wustl.edu	37	chrX	14863281	14863281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccaatcctatttcacatgGcatcaagtatggtgctggga	10	13	9	9	0	2	0	2	0	0	0	4	1	4	1	2	3	1	3	2	3	4	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:14863281G>C	ENST00000324138.3	-	7	1777	c.1624C>G	c.(1624-1626)Cca>Gca	p.P542A	FANCB_ENST00000398334.1_Missense_Mutation_p.P542A	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	542					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.P542S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ATTTCACATGGCATCAAGTAT	0.418								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								1	Substitution - Missense(1)	NS(1)											99	92	94					X																	14863281		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1624C>G	X.37:g.14863281G>C	ENSP00000326819:p.Pro542Ala		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	NULL	p.P542A	ENST00000324138.3	37	c.1624	CCDS14161.1	X	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.202092	0.01581	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.36	0.0166	0.14109	.	0.766655	0.12611	N	0.453827	T	0.33990	0.0882	L	0.54323	1.7	0.09310	N	1	D	0.61697	0.99	P	0.57152	0.814	T	0.32214	-0.9915	9	0.02654	T	1	-0.6089	1.3628	0.02195	0.2578:0.2591:0.3486:0.1345	.	542	Q8NB91	FANCB_HUMAN	A	542	.	ENSP00000326819:P542A	P	-	1	0	FANCB	14773202	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.577000	0.23758	-0.133000	0.11537	0.523000	0.50628	CCA	FANCB	-	NULL	ENSG00000181544		0.418	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	-	0	77	0	G	NM_152633		14863281	-1	tier1	-	no_errors	ENST00000324138	ensembl	human	known	74_37	missense	8.24	78	7	SNP	0.000	C	C	14863281	G	C	14863281	3	2	174	1	0	0	0	0	1	0	0	0	5685	1203	42	5	967	5	FANCB	23	14863281	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	11615199	14863281	140407279	217	43741											
MOSPD2	158747	genome.wustl.edu	37	chrX	14921105	14921105	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcaaaaatagtgatctttGatatgccttggttaatgaat	14	14	8	5	0	1	3	0	3	1	0	1	3	1	3	1	1	2	2	1	1	6	5			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:14921105G>C	ENST00000380492.3	+	7	644	c.556G>C	c.(556-558)Gat>Cat	p.D186H	MOSPD2_ENST00000482354.1_Missense_Mutation_p.D186H|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	186	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGTGATCTTTGATATGCCTTG	0.294																																																	0													98	88	92					X																	14921105		2201	4297	6498	SO:0001583	missense	0			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.556G>C	X.37:g.14921105G>C	ENSP00000369860:p.Asp186His		Q8N3H2|Q8NA83	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom	p.D186H	ENST00000380492.3	37	c.556	CCDS14162.1	X	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323600	0.81580	.	.	ENSG00000130150	ENST00000380492	T	0.59364	0.27	5.62	5.62	0.85841	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.098402	0.64402	D	0.000001	T	0.73321	0.3572	L	0.58101	1.795	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.74484	-0.3650	10	0.56958	D	0.05	.	18.7012	0.91620	0.0:0.0:1.0:0.0	.	186	Q8NHP6	MSPD2_HUMAN	H	186	ENSP00000369860:D186H	ENSP00000369860:D186H	D	+	1	0	MOSPD2	14831026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.839000	0.92120	2.361000	0.80049	0.600000	0.82982	GAT	MOSPD2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000130150		0.294	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1	-	0	170	0	G	NM_152581		14921105	1	tier1	-	no_errors	ENST00000380492	ensembl	human	known	74_37	missense	12.63	173	25	SNP	1.000	C	C	14921105	G	C	14921105	3	2	174	1	0	0	0	0	1	0	0	0	9754	1290	45	5	582	5	MOSPD2	23	14921105	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	57824	14921105	140349455	218	43742											
ACE2	59272	genome.wustl.edu	37	chrX	15618926	15618926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actttgatagaacaggtcttCggcttcgtggttaaacttgt	9	15	10	7	2	1	2	0	1	1	1	3	2	1	2	0	3	2	2	0	3	4	6	rs146676783	byFrequency	TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:15618926C>T	ENST00000252519.3	-	1	211	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	ACE2_ENST00000427411.1_Missense_Mutation_p.E37K|GS1-594A7.3_ENST00000421585.1_RNA			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	37	Interaction with SARS-CoV spike glycoprotein.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	AACAGGTCTTCGGCTTCGTGG	0.438																																																	0								C	LYS/GLU	3,3832		0,3,1629,571	171	145	154		109	5.8	0.9	X	dbSNP_134	154	0,6728		0,0,2428,1872	no	missense	ACE2	NM_021804.2	56	0,3,4057,2443	TT,TC,CC,C		0.0,0.0782,0.0284	benign	37/806	15618926	3,10560	2203	4300	6503	SO:0001583	missense	0			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.109G>A	X.37:g.15618926C>T	ENSP00000252519:p.Glu37Lys		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.E37K	ENST00000252519.3	37	c.109	CCDS14169.1	X	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104764	0.37145	7.82E-4	0.0	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.35605	1.3;1.3	5.81	5.81	0.92471	.	0.245514	0.42682	D	0.000679	T	0.53932	0.1827	M	0.74258	2.255	0.41481	D	0.988165	P	0.40302	0.712	P	0.48738	0.588	T	0.54669	-0.8259	10	0.51188	T	0.08	-25.256	19.0311	0.92957	0.0:1.0:0.0:0.0	.	37	Q9BYF1	ACE2_HUMAN	K	37	ENSP00000252519:E37K;ENSP00000389326:E37K	ENSP00000252519:E37K	E	-	1	0	ACE2	15528847	0.999000	0.42202	0.913000	0.36048	0.023000	0.10783	3.664000	0.54525	2.443000	0.82685	0.594000	0.82650	GAA	ACE2	-	pfam_Peptidase_M2	ENSG00000130234		0.438	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE2	HGNC	protein_coding	OTTHUMT00000055867.1	-	0	90	0	C			15618926	-1	tier1	rs146676783	no_errors	ENST00000252519	ensembl	human	known	74_37	missense	18.38	111	25	SNP	1.000	T	T	15618926	C	T	15618926	3	4	174	1	0	0	0	0	1	0	0	0	137	893	31	1	2380	1	ACE2	23	15618926	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	697821	15618926	139651634	219	43743											
CDKL5	6792	genome.wustl.edu	37	chrX	18622887	18622887	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctcataggcattctatgtatGtgacccgtgacaaagtgaga	12	11	10	8	1	2	3	1	3	1	1	2	4	2	3	1	1	0	2	1	1	4	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:18622887G>T	ENST00000379989.3	+	13	2128	c.1843G>T	c.(1843-1845)Gtg>Ttg	p.V615L	CDKL5_ENST00000379996.3_Missense_Mutation_p.V615L|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	615					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)					TTCTATGTATGTGACCCGTGA	0.517																																																	0													192	185	187					X																	18622887		2203	4300	6503	SO:0001583	missense	0			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.1843G>T	X.37:g.18622887G>T	ENSP00000369325:p.Val615Leu		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V615L	ENST00000379989.3	37	c.1843	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935050	0.73442	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.78003	-1.14;-1.14	5.83	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	L	0.36672	1.1	0.41269	D	0.986835	P	0.37122	0.583	B	0.31016	0.123	T	0.70641	-0.4816	10	0.87932	D	0	-15.1854	14.0049	0.64456	0.0741:0.0:0.9259:0.0	.	615	O76039	CDKL5_HUMAN	L	615	ENSP00000369332:V615L;ENSP00000369325:V615L	ENSP00000369325:V615L	V	+	1	0	CDKL5	18532808	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.230000	0.95299	1.224000	0.43551	0.600000	0.82982	GTG	CDKL5	-	NULL	ENSG00000008086		0.517	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2		0	38	0	G	NM_003159		18622887	1			no_errors	ENST00000379989	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	18622887	G	T	18622887	3	4	174	1	0	0	0	0	1	0	0	0	3164	1377	48	3	1885	3	CDKL5	23	18622887	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	3003961	18622887	136647673	220	43744											
MAGEB6	158809	genome.wustl.edu	37	chrX	26212543	26212543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaagcgcttaagcaaagatGctgtaaagaagaaggcgtgc	15	8	12	6	2	0	3	0	0	0	3	0	3	0	3	0	1	4	4	0	1	7	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:26212543G>T	ENST00000379034.1	+	2	729	c.580G>T	c.(580-582)Gct>Tct	p.A194S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	194										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAGCAAAGATGCTGTAAAGAA	0.463																																																	0													74	64	67					X																	26212543		2202	4300	6502	SO:0001583	missense	0			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.580G>T	X.37:g.26212543G>T	ENSP00000368320:p.Ala194Ser		Q6GS19|Q9H219	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A194S	ENST00000379034.1	37	c.580	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	C	7.035	0.561482	0.13498	.	.	ENSG00000176746	ENST00000379034	T	0.01902	4.57	2.33	1.47	0.22746	.	0.718217	0.12370	U	0.474899	T	0.01454	0.0047	N	0.14661	0.345	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.49560	-0.8927	10	0.18276	T	0.48	.	6.4234	0.21756	0.0:0.6977:0.3023:0.0	.	194	Q8N7X4	MAGB6_HUMAN	S	194	ENSP00000368320:A194S	ENSP00000368320:A194S	A	+	1	0	MAGEB6	26122464	0.006000	0.16342	0.451000	0.26982	0.005000	0.04900	-0.180000	0.09754	0.430000	0.26230	-0.258000	0.10820	GCT	MAGEB6	-	NULL	ENSG00000176746		0.463	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	-	0	107	0	G	NM_173523		26212543	1	tier1	-	no_errors	ENST00000379034	ensembl	human	known	74_37	missense	12.58	132	19	SNP	0.434	T	T	26212543	G	T	26212543	3	4	174	1	0	0	0	0	1	0	0	0	9217	1319	46	3	582	3	MAGEB6	23	26212543	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	7589656	26212543	129058017	221	43745											
GNL3L	54552	genome.wustl.edu	37	chrX	54584945	54584945	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacgcaatgtggaccaccGccctaagagcaacagtatgg	14	6	10	11	2	0	1	0	0	0	1	0	2	0	2	3	2	3	3	3	2	6	3	rs549795452		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:54584945G>T	ENST00000336470.4	+	15	1662	c.1523G>T	c.(1522-1524)cGc>cTc	p.R508L	GNL3L_ENST00000360845.2_Missense_Mutation_p.R508L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	508					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GTGGACCACCGCCCTAAGAGC	0.552																																																	0													129	94	106					X																	54584945		2203	4300	6503	SO:0001583	missense	0			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1523G>T	X.37:g.54584945G>T	ENSP00000338573:p.Arg508Leu			Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.R508L	ENST00000336470.4	37	c.1523	CCDS14360.1	X	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.644578	0.00792	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.17854	2.25;2.25	3.97	-7.94	0.01152	.	2.116720	0.02273	N	0.068604	T	0.08802	0.0218	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18618	-1.0331	10	0.29301	T	0.29	-17.7126	7.1556	0.25635	0.1504:0.0:0.5855:0.2641	.	508	Q9NVN8	GNL3L_HUMAN	L	508	ENSP00000338573:R508L;ENSP00000354091:R508L	ENSP00000338573:R508L	R	+	2	0	GNL3L	54601670	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.827000	0.00746	-2.003000	0.00962	-0.735000	0.03563	CGC	GNL3L	-	NULL	ENSG00000130119		0.552	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3L	HGNC	protein_coding	OTTHUMT00000056805.1	-	0	46	0	G	NM_019067		54584945	1	tier1	rs145061026	no_errors	ENST00000336470	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.000	T	T	54584945	G	T	54584945	3	4	174	1	0	0	0	0	1	0	0	0	6564	1087	38	2	1577	2	GNL3L	23	54584945	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	28372402	54584945	100685615	222	43746											
FAM123B	139285	genome.wustl.edu	37	chrX	63413072	63413072	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctgtcgcctcagctgccTtgttcttggctcctttttct	1	19	7	14	1	4	0	1	0	3	0	6	0	5	0	3	1	2	3	3	1	0	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:63413072T>C	ENST00000330258.3	-	2	367	c.95A>G	c.(94-96)aAg>aGg	p.K32R	AMER1_ENST00000374869.3_Missense_Mutation_p.K32R|AMER1_ENST00000403336.1_Missense_Mutation_p.K32R	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	32					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)									CTCAGCTGCCTTGTTCTTGGC	0.537																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											240	189	206					X																	63413072		2203	4300	6503	SO:0001583	missense	0			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.95A>G	X.37:g.63413072T>C	ENSP00000329117:p.Lys32Arg		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.K32R	ENST00000330258.3	37	c.95	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144650	0.37825	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.47177	0.86;0.85;0.86	4.59	4.59	0.56863	.	0.209136	0.34046	N	0.004316	T	0.31857	0.0810	L	0.29908	0.895	0.09310	N	1	P	0.40970	0.734	B	0.40329	0.326	T	0.12293	-1.0553	10	0.14252	T	0.57	-15.9768	7.6662	0.28432	0.0:0.1004:0.0:0.8996	.	32	Q5JTC6	F123B_HUMAN	R	32	ENSP00000364003:K32R;ENSP00000329117:K32R;ENSP00000384722:K32R	ENSP00000329117:K32R	K	-	2	0	FAM123B	63329797	0.882000	0.30256	0.888000	0.34837	0.296000	0.27459	2.838000	0.48199	2.018000	0.59344	0.486000	0.48141	AAG	AMER1	-	NULL	ENSG00000184675		0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER1	HGNC	protein_coding	OTTHUMT00000316584.1	-	0	58	0	T	NM_152424		63413072	-1	tier1	-	no_errors	ENST00000330258	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.137	C	C	63413072	T	C	63413072	3	2	174	1	0	0	0	0	1	0	0	0	5442	1609	56	4	3316	4	FAM123B	23	63413072	Missense_Mutation	SNP	T	TCGA-VR-AA7B-01A-31D-A403-09	8828127	63413072	91857488	223	43747											
TAF1	6872	genome.wustl.edu	37	chrX	70612510	70612510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gactggggtggcagatcccaCggggtgtggtgaaggattct	7	9	18	7	1	1	2	0	1	1	1	2	4	2	3	1	7	0	1	1	7	1	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:70612510C>T	ENST00000373790.4	+	19	2921	c.2870C>T	c.(2869-2871)aCg>aTg	p.T957M	TAF1_ENST00000449580.1_Missense_Mutation_p.T957M|TAF1_ENST00000423759.1_Missense_Mutation_p.T978M|TAF1_ENST00000276072.3_Missense_Mutation_p.T978M	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	957	Histone acetyltransferase (HAT).				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)				GCAGATCCCACGGGGTGTGGT	0.488																																																	0													83	73	77					X																	70612510		2203	4300	6503	SO:0001583	missense	0				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.2870C>T	X.37:g.70612510C>T	ENSP00000362895:p.Thr957Met		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.T957M	ENST00000373790.4	37	c.2870	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	23.1	4.377712	0.82682	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.81	4.81	0.61882	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.051023	0.85682	D	0.000000	T	0.62829	0.2460	M	0.93678	3.445	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	T	0.75453	-0.3312	10	0.87932	D	0	.	17.3645	0.87359	0.0:1.0:0.0:0.0	.	957;957;978	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	M	957;957;978;978	ENSP00000362895:T957M;ENSP00000389000:T957M;ENSP00000406549:T978M;ENSP00000276072:T978M	ENSP00000276072:T978M	T	+	2	0	TAF1	70529235	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.439000	0.80444	2.112000	0.64535	0.544000	0.68410	ACG	TAF1	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000147133		0.488	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	-	0	72	0	C	NM_004606		70612510	1	tier1	-	no_errors	ENST00000449580	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	T	T	70612510	C	T	70612510	3	4	174	1	0	0	0	0	1	0	0	0	15560	536	19	1	3007	1	TAF1	23	70612510	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	7199438	70612510	84658050	224	43748											
ARMCX6	54470	genome.wustl.edu	37	chrX	100871258	100871258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacacaactgccatttttaCaattttgagcactccaagta	14	12	5	10	0	0	1	0	1	0	0	1	2	1	1	2	0	5	2	2	0	6	6			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:100871258C>T	ENST00000361910.4	-	3	697	c.353G>A	c.(352-354)tGt>tAt	p.C118Y	ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000538627.1_Missense_Mutation_p.C118Y|ARMCX6_ENST00000539247.1_Missense_Mutation_p.C118Y	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	118						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						GCCATTTTTACAATTTTGAGC	0.493																																																	0													99	100	100					X																	100871258		2203	4300	6503	SO:0001583	missense	0			BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"Armadillo repeat containing"	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.353G>A	X.37:g.100871258C>T	ENSP00000354708:p.Cys118Tyr		Q9NWJ3	Missense_Mutation	SNP	pfam_ARM-rpt_dom	p.C118Y	ENST00000361910.4	37	c.353	CCDS14488.1	X	.	.	.	.	.	.	.	.	.	.	.	0.422	-0.907678	0.02434	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.28255	1.62;1.62;1.62	3.73	-4.09	0.03951	.	1.337810	0.04906	N	0.452211	T	0.14657	0.0354	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.30179	-0.9987	10	0.72032	D	0.01	9.2133	4.6555	0.12615	0.4386:0.2874:0.0:0.2741	.	118	Q7L4S7	ARMX6_HUMAN	Y	118	ENSP00000354708:C118Y;ENSP00000444537:C118Y;ENSP00000440648:C118Y	ENSP00000354708:C118Y	C	-	2	0	ARMCX6	100757914	0.786000	0.28738	0.000000	0.03702	0.031000	0.12232	0.065000	0.14466	-0.955000	0.03636	-1.799000	0.00621	TGT	ARMCX6	-	pfam_ARM-rpt_dom	ENSG00000198960		0.493	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX6	HGNC	protein_coding	OTTHUMT00000057562.1	-	0	161	0	C	NM_019007		100871258	-1	tier1	-	no_errors	ENST00000361910	ensembl	human	known	74_37	missense	19.15	76	18	SNP	0.000	T	T	100871258	C	T	100871258	3	4	174	1	0	0	0	0	1	0	0	0	964	478	17	3	553	3	ARMCX6	23	100871258	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	30258748	100871258	54399302	225	43749											
CXorf57	55086	genome.wustl.edu	37	chrX	105855928	105855928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatatctggttaacagacaaGcaacctgaggaacacaactt	16	8	8	9	0	1	2	0	1	1	1	1	4	1	3	1	2	5	2	1	2	6	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:105855928G>T	ENST00000372548.4	+	1	727	c.618G>T	c.(616-618)aaG>aaT	p.K206N	CXorf57_ENST00000372544.2_Missense_Mutation_p.K206N	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	206							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TAACAGACAAGCAACCTGAGG	0.453																																																	0													84	87	86					X																	105855928		2203	4299	6502	SO:0001583	missense	0			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.618G>T	X.37:g.105855928G>T	ENSP00000361628:p.Lys206Asn		H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold	p.K206N	ENST00000372548.4	37	c.618	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282577	0.23392	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.47177	0.85;0.85;0.86	4.03	2.19	0.27852	.	0.670897	0.14904	N	0.291645	T	0.48484	0.1502	L	0.44542	1.39	0.09310	N	0.999999	P;P;D	0.62365	0.582;0.582;0.991	B;B;P	0.61070	0.148;0.148;0.883	T	0.28681	-1.0036	10	0.37606	T	0.19	-9.6109	2.4619	0.04543	0.2315:0.0:0.509:0.2595	.	206;206;206	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	N	206;206;14	ENSP00000361623:K206N;ENSP00000361628:K206N;ENSP00000405866:K14N	ENSP00000361623:K206N	K	+	3	2	CXorf57	105742584	0.000000	0.05858	0.534000	0.28014	0.227000	0.25037	0.118000	0.15605	0.808000	0.34231	0.594000	0.82650	AAG	CXorf57	-	NULL	ENSG00000147231		0.453	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	-	0	95	0	G	NM_018015		105855928	1	tier1	-	no_errors	ENST00000372548	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.237	T	T	105855928	G	T	105855928	3	4	174	1	0	0	0	0	1	0	0	0	4122	962	34	3	620	3	CXorf57	23	105855928	Missense_Mutation	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	4984670	105855928	49414632	226	43750											
PAK3	5063	genome.wustl.edu	37	chrX	110406853	110406853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccaaataaagaggtcacaCcaccctctgctgaaaatgcc	15	7	6	13	0	2	2	1	1	1	1	2	2	2	2	4	1	3	1	4	1	6	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:110406853C>T	ENST00000372010.1	+	11	1151	c.709C>T	c.(709-711)Cca>Tca	p.P237S	PAK3_ENST00000360648.4_Missense_Mutation_p.P258S|PAK3_ENST00000262836.4_Missense_Mutation_p.P237S|PAK3_ENST00000425146.1_Missense_Mutation_p.P222S|PAK3_ENST00000372007.5_Missense_Mutation_p.P222S|PAK3_ENST00000417227.1_Missense_Mutation_p.P243S|PAK3_ENST00000446737.1_Missense_Mutation_p.P222S|PAK3_ENST00000518291.1_Missense_Mutation_p.P258S|PAK3_ENST00000519681.1_Missense_Mutation_p.P243S			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	237	Linker.				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						AGAGGTCACACCACCCTCTGC	0.403										TSP Lung(19;0.15)																																							0													149	137	141					X																	110406853		2203	4300	6503	SO:0001583	missense	0			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.709C>T	X.37:g.110406853C>T	ENSP00000361080:p.Pro237Ser		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.P258S	ENST00000372010.1	37	c.772	CCDS48153.1	X	.	.	.	.	.	.	.	.	.	.	C	9.308	1.054742	0.19907	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.72282	-0.63;-0.63;-0.63;-0.64;-0.63;-0.63;-0.63;-0.64;-0.63	5.95	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.66939	2.045	0.41652	D	0.989133	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.59736	-0.7398	10	0.28530	T	0.3	.	7.1603	0.25661	0.3997:0.4621:0.1381:0.0	.	243;258;237;222	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	S	222;222;237;243;222;258;258;243;237	ENSP00000410853:P222S;ENSP00000401982:P222S;ENSP00000361080:P237S;ENSP00000429113:P243S;ENSP00000361077:P222S;ENSP00000428921:P258S;ENSP00000353864:P258S;ENSP00000389172:P243S;ENSP00000262836:P237S	ENSP00000262836:P237S	P	+	1	0	PAK3	110293509	0.985000	0.35326	0.994000	0.49952	0.992000	0.81027	2.589000	0.46145	2.519000	0.84933	0.594000	0.82650	CCA	PAK3	-	NULL	ENSG00000077264		0.403	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	HGNC	protein_coding	OTTHUMT00000057918.1	-	0	81	0	C	NM_002578		110406853	1	tier1	-	no_errors	ENST00000360648	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.952	T	T	110406853	C	T	110406853	3	4	174	1	0	0	0	0	1	0	0	0	11441	507	18	3	802	3	PAK3	23	110406853	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	4550925	110406853	44863707	227	43751											
KIAA1210	57481	genome.wustl.edu	37	chrX	118221021	118221021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccaattgtcagaattgCtctcaaaaacagatcgccta	15	9	7	10	1	2	2	2	0	1	2	4	3	2	3	2	1	3	1	2	1	6	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:118221021C>T	ENST00000402510.2	-	11	4171	c.4172G>A	c.(4171-4173)aGc>aAc	p.S1391N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1391										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTCAGAATTGCTCTCAAAAAC	0.453																																																	0													125	122	123					X																	118221021		1907	4113	6020	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4172G>A	X.37:g.118221021C>T	ENSP00000384670:p.Ser1391Asn		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.S1391N	ENST00000402510.2	37	c.4172	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488829	0.26686	.	.	ENSG00000250423	ENST00000402510	T	0.10005	2.92	4.18	-1.46	0.08800	.	.	.	.	.	T	0.05318	0.0141	N	0.19112	0.55	0.09310	N	1	B	0.19331	0.035	B	0.14023	0.01	T	0.44982	-0.9292	9	0.17832	T	0.49	.	4.4124	0.11439	0.0:0.3251:0.1725:0.5023	.	1391	Q9ULL0	K1210_HUMAN	N	1391	ENSP00000384670:S1391N	ENSP00000384670:S1391N	S	-	2	0	RP13-347D8.6	118105049	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.740000	0.26188	-0.414000	0.07495	-1.292000	0.01352	AGC	KIAA1210	-	NULL	ENSG00000250423		0.453	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	-	0	53	0	C	NM_020721		118221021	-1	tier1	-	no_errors	ENST00000402510	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.000	T	T	118221021	C	T	118221021	3	4	174	1	0	0	0	0	1	0	0	0	8241	797	28	3	973	3	KIAA1210	23	118221021	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	7814168	118221021	37049539	228	43752											
DCAF12L2	340578	genome.wustl.edu	37	chrX	125299586	125299586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gccgcacaccacctgcctggCgttcagccactgtgacgcga	7	6	11	17	4	1	1	1	1	0	0	1	2	1	1	5	1	2	2	5	1	0	1	rs377444816		TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:125299586C>T	ENST00000360028.2	-	1	348	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A108T			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	108										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						ACCTGCCTGGCGTTCAGCCAC	0.652																																																	0													70	62	65					X																	125299586		2203	4300	6503	SO:0001583	missense	0			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.322G>A	X.37:g.125299586C>T	ENSP00000353128:p.Ala108Thr		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A108T	ENST00000360028.2	37	c.322	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	c	9.715	1.158110	0.21454	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.62105	0.05;0.05	3.42	-0.409	0.12378	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.47544	0.1451	L	0.54323	1.7	0.27304	N	0.957504	B	0.14438	0.01	B	0.06405	0.002	T	0.37526	-0.9702	9	0.33141	T	0.24	.	0.5098	0.00593	0.1804:0.2945:0.175:0.3501	.	108	Q5VW00	DC122_HUMAN	T	108	ENSP00000441489:A108T;ENSP00000353128:A108T	ENSP00000353128:A108T	A	-	1	0	DCAF12L2	125127267	1.000000	0.71417	0.888000	0.34837	0.714000	0.41099	1.098000	0.31000	-0.243000	0.09653	-1.480000	0.00990	GCC	DCAF12L2	-	superfamily_WD40_repeat_dom	ENSG00000198354		0.652	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	-	0	50	0	C	NM_001013628		125299586	-1	tier1	-	no_errors	ENST00000360028	ensembl	human	known	74_37	missense	26.32	14	5	SNP	0.993	T	T	125299586	C	T	125299586	3	4	174	1	0	0	0	0	1	0	0	0	4274	768	27	1	1073	1	DCAF12L2	23	125299586	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	7078565	125299586	29970974	229	43753											
DCAF12L1	139170	genome.wustl.edu	37	chrX	125685531	125685531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtagaagctcagcgacCgcacgcctgtgccaccctct	7	6	12	16	4	2	1	1	0	1	1	2	2	2	1	4	2	3	3	4	2	2	1			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:125685531C>T	ENST00000371126.1	-	1	1303	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	354										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCTCAGCGACCGCACGCCTGT	0.622																																																	0													33	34	33					X																	125685531		2203	4300	6503	SO:0001583	missense	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1061G>A	X.37:g.125685531C>T	ENSP00000360167:p.Arg354Gln		Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R354Q	ENST00000371126.1	37	c.1061	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611652	0.46631	.	.	ENSG00000198889	ENST00000371126	T	0.63913	-0.07	3.64	-0.288	0.12855	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36409	N	0.002616	T	0.64681	0.2620	M	0.83774	2.66	0.30920	N	0.728146	D	0.71674	0.998	P	0.50860	0.652	T	0.64398	-0.6417	10	0.48119	T	0.1	.	4.6796	0.12729	0.0:0.5223:0.1606:0.3171	.	354	Q5VU92	DC121_HUMAN	Q	354	ENSP00000360167:R354Q	ENSP00000360167:R354Q	R	-	2	0	DCAF12L1	125513212	0.997000	0.39634	0.001000	0.08648	0.132000	0.20833	3.420000	0.52735	-0.185000	0.10550	0.429000	0.28392	CGG	DCAF12L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198889		0.622	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0	58	0	C	NM_178470		125685531	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	missense	47.37	10	9	SNP	0.930	T	T	125685531	C	T	125685531	3	4	174	1	0	0	0	0	1	0	0	0	4273	652	23	1	334	1	DCAF12L1	23	125685531	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	385945	125685531	29585029	230	43754											
ARHGAP36	158763	genome.wustl.edu	37	chrX	130217775	130217775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgagtttacccgccgcaaGcatcttgaactgacagccac	12	7	8	14	3	1	2	0	2	1	0	1	3	1	2	3	0	5	3	3	0	4	3			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:130217775G>A	ENST00000276211.5	+	4	732	c.387G>A	c.(385-387)aaG>aaA	p.K129K	ARHGAP36_ENST00000370922.1_Silent_p.K117K|ARHGAP36_ENST00000370921.1_5'UTR	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	129					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						CCCGCCGCAAGCATCTTGAAC	0.567																																																	0													134	132	133					X																	130217775		2203	4300	6503	SO:0001819	synonymous_variant	0				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.387G>A	X.37:g.130217775G>A			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K129	ENST00000276211.5	37	c.387	CCDS14628.1	X																																																																																			ARHGAP36	-	NULL	ENSG00000147256		0.567	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	-	0	120	0	G	NM_144967		130217775	1	tier1	-	no_errors	ENST00000276211	ensembl	human	known	74_37	silent	36.59	26	15	SNP	0.846	A	A	130217775	G	A	130217775	2	1	174	1	0	0	0	0	0	0	0	1	883	962	34	3		3	ARHGAP36	23	130217775	Silent	SNP	G	TCGA-VR-AA7B-01A-31D-A403-09	4532244	130217775	25052785	231	43755											
GPR112	139378	genome.wustl.edu	37	chrX	135430243	135430243	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	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	ctttcatttctgaaagcacaCagactttccctgagtccttg	9	14	6	12	0	2	3	1	2	1	1	4	3	4	3	2	0	1	1	2	0	1	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:135430243C>T	ENST00000394143.1	+	6	4669	c.4378C>T	c.(4378-4380)Cag>Tag	p.Q1460*	GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q1255*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q1460*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q1397*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q1255*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1460					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)					TGAAAGCACACAGACTTTCCC	0.418																																																	0													115	111	112					X																	135430243		2203	4300	6503	SO:0001587	stop_gained	0			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.4378C>T	X.37:g.135430243C>T	ENSP00000377699:p.Gln1460*		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.Q1460*	ENST00000394143.1	37	c.4378	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	44	11.152715	0.99523	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	2.79	0.473	0.16763	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.4278	0.27109	0.0:0.4391:0.5609:0.0	.	.	.	.	X	1460;1460;1255;1397;1255	.	ENSP00000287534:Q1397X	Q	+	1	0	GPR112	135257909	0.004000	0.15560	0.625000	0.29200	0.922000	0.55478	0.292000	0.19011	0.319000	0.23209	0.458000	0.33432	CAG	GPR112	-	NULL	ENSG00000156920		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	-	0	44	0	C			135430243	1	tier1	-	no_errors	ENST00000370652	ensembl	human	known	74_37	nonsense	12.00	22	3	SNP	0.079	T	T	135430243	C	T	135430243	4	4	174	1	0	0	0	0	0	1	0	0	6655	479	17	3	4388	3	GPR112	23	135430243	Nonsense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	5212468	135430243	19840317	232	43756											
CDR1	1038	genome.wustl.edu	37	chrX	139866523	139866523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaaaatccacgtcttccaaCcaagccatgtcttccagaaa	15	8	5	13	1	2	2	0	0	2	2	5	2	5	2	5	0	2	0	5	0	5	2			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:139866523C>A	ENST00000370532.2	-	1	200	c.9G>T	c.(7-9)tgG>tgT	p.W3C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	3	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CGTCTTCCAACCAAGCCATGT	0.423																																																	0													124	126	125					X																	139866523		2201	4299	6500	SO:0001583	missense	0				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.9G>T	X.37:g.139866523C>A	ENSP00000359563:p.Trp3Cys		Q5JXH6	Missense_Mutation	SNP	NULL	p.W3C	ENST00000370532.2	37	c.9	CCDS14670.1	X	.	.	.	.	.	.	.	.	.	.	C	7.936	0.741698	0.15642	.	.	ENSG00000184258	ENST00000370532	T	0.29655	1.56	4.24	0.433	0.16534	.	.	.	.	.	T	0.11367	0.0277	N	0.08118	0	0.09310	N	1	P	0.35124	0.485	B	0.23852	0.049	T	0.23190	-1.0195	8	.	.	.	.	6.4563	0.21932	0.398:0.5081:0.0:0.0939	.	3	P51861	CDR1_HUMAN	C	3	ENSP00000359563:W3C	.	W	-	3	0	CDR1	139694189	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	-0.360000	0.07622	-0.202000	0.10268	-0.269000	0.10298	TGG	CDR1	-	NULL	ENSG00000184258		0.423	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR1	HGNC	protein_coding	OTTHUMT00000058583.1	-	0	159	0	C	NM_004065		139866523	-1	tier1	-	no_errors	ENST00000370532	ensembl	human	known	74_37	missense	8.82	62	6	SNP	0.001	A	A	139866523	C	A	139866523	3	1	174	1	0	0	0	0	1	0	0	0	3178	508	18	3	783	3	CDR1	23	139866523	Missense_Mutation	SNP	C	TCGA-VR-AA7B-01A-31D-A403-09	4436280	139866523	15404037	233	43757											
SPANXC	64663	genome.wustl.edu	37	chrX	140336535	140336535	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccgtctcattcacctcgTtggattcacaggggacgctc	7	12	9	13	3	3	0	3	0	1	0	6	2	3	2	2	3	1	2	2	3	1	4			TCGA-VR-AA7B-01A-31D-A403-09	TCGA-VR-AA7B-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bbffd8c8-f1a8-43d1-8064-a79678d11b20	f279b1d8-e75b-468c-b25d-587804a7ea13	g.chrX:140336535T>A	ENST00000358993.2	-	1	94	c.56A>T	c.(55-57)aAc>aTc	p.N19I		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	19						cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					ATTCACCTCGTTGGATTCACA	0.493																																																	0													83	117	105					X																	140336535		2195	4274	6469	SO:0001583	missense	0			AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 3"	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.56A>T	X.37:g.140336535T>A	ENSP00000351884:p.Asn19Ile		Q32WL9|Q5JX88	Missense_Mutation	SNP	pfam_SPANX_prot	p.N19I	ENST00000358993.2	37	c.56	CCDS14673.1	X	.	.	.	.	.	.	.	.	.	.	t	9.417	1.081929	0.20309	.	.	ENSG00000198573	ENST00000358993	T	0.15139	2.45	.	.	.	.	.	.	.	.	T	0.36908	0.0984	M	0.76328	2.33	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.08554	-1.0716	7	0.87932	D	0	.	.	.	.	.	19	Q9NY87	SPNXC_HUMAN	I	19	ENSP00000351884:N19I	ENSP00000351884:N19I	N	-	2	0	SPANXC	140164201	0.148000	0.22702	0.001000	0.08648	0.001000	0.01503	0.662000	0.25038	0.322000	0.23283	0.317000	0.21355	AAC	SPANXC	-	pfam_SPANX_prot	ENSG00000198573		0.493	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXC	HGNC	protein_coding	OTTHUMT00000058590.1	-	0	387	0	T	NM_022661		140336535	-1	tier1	-	no_errors	ENST00000358993	ensembl	human	known	74_37	missense	20.69	183	48	SNP	0.001	A	A	140336535	T	A	140336535	3	1	174	1	0	0	0	0	1	0	0	0	15034	1725	60	5	245	5	SPANXC	23	140336535	Missense_Mutation	SNP	T	TCGA-VR-AA7B-01A-31D-A403-09	470012	140336535	14934025	234	43758											
CAMTA1	23261	genome.wustl.edu	37	chr1	7796554	7796554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccctactccacctggccGctgcccagggctatgccacc	6	7	9	19	1	0	1	0	1	0	0	1	1	1	1	7	2	3	2	7	2	2	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:7796554G>A	ENST00000303635.7	+	13	3424	c.3217G>A	c.(3217-3219)Gct>Act	p.A1073T	CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1073T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1073					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)		CCACCTGGCCGCTGCCCAGGG	0.592			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													109	102	104					1																	7796554		2203	4300	6503	SO:0001583	missense	0			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.3217G>A	1.37:g.7796554G>A	ENSP00000306522:p.Ala1073Thr		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.A1073T	ENST00000303635.7	37	c.3217	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857972	0.91433	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.39997	1.05;1.05	5.79	5.79	0.91817	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	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	0.91635	0.999;0.996;0.998;0.993	T	0.71297	-0.4635	10	0.66056	D	0.02	-9.2643	20.04	0.97581	0.0:0.0:1.0:0.0	.	1073;160;29;1073	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	T	1073;1073;160;29	ENSP00000306522:A1073T;ENSP00000402561:A1073T	ENSP00000306522:A1073T	A	+	1	0	CAMTA1	7719141	1.000000	0.71417	0.897000	0.35233	0.413000	0.31143	9.793000	0.99091	2.733000	0.93635	0.655000	0.94253	GCT	CAMTA1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000171735		0.592	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	-	0	49	0	G	NM_015215		7796554	1	tier1	-	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	7796554	G	A	7796554	3	1	175	1	0	0	0	0	1	0	0	0	2620	1087	38	1	3267	1	CAMTA1	1	7796554	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		7796554	241454067	1	43759											
AADACL4	343066	genome.wustl.edu	37	chr1	12711295	12711295	+	Missense_Mutation	SNP	T	T	A	0	1	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	tgttccagccgaaggcagcaTcctccagaccccggcgaggc	8	5	12	16	3	0	1	0	0	0	1	3	3	3	1	6	3	2	3	6	3	1	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:12711295T>A	ENST00000376221.1	+	2	322	c.322T>A	c.(322-324)Tcc>Acc	p.S108T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	108						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)		GAAGGCAGCATCCTCCAGACC	0.557																																																	0													64	63	63					1																	12711295		2203	4300	6503	SO:0001583	missense	0				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.322T>A	1.37:g.12711295T>A	ENSP00000365395:p.Ser108Thr			Missense_Mutation	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.S108T	ENST00000376221.1	37	c.322	CCDS30590.1	1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.348199	0.61183	.	.	ENSG00000204518	ENST00000376221	T	0.59638	0.25	5.01	3.85	0.44370	.	0.307856	0.30920	N	0.008606	T	0.55273	0.1910	M	0.68952	2.095	0.19775	N	0.999955	P	0.50066	0.931	B	0.44163	0.443	T	0.48937	-0.8990	10	0.33141	T	0.24	-44.8979	10.0478	0.42197	0.0:0.0:0.1697:0.8303	.	108	Q5VUY2	ADCL4_HUMAN	T	108	ENSP00000365395:S108T	ENSP00000365395:S108T	S	+	1	0	AADACL4	12633882	0.257000	0.24022	0.011000	0.14972	0.906000	0.53458	1.263000	0.33004	0.706000	0.31912	0.379000	0.24179	TCC	AADACL4	-	pirsf_Arylacetamide_deacetylase	ENSG00000204518		0.557	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL4	HGNC	protein_coding	OTTHUMT00000005328.1	-	0	62	0	T	NM_001013630		12711295	1	tier1	-	no_errors	ENST00000376221	ensembl	human	known	74_37	missense	30.70	79	35	SNP	0.137	A	A	12711295	T	A	12711295	3	1	175	1	0	0	0	0	1	0	0	0	13	1435	50	5	328	5	AADACL4	1	12711295	Missense_Mutation	SNP	T	TCGA-VR-AA7D-01A-11D-A403-09	4914741	12711295	236539326	2	43760											
DNALI1	7802	genome.wustl.edu	37	chr1	38023339	38023339	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaatcttgaatgccataCtacccccaaggtaagaaagt	17	8	7	9	0	1	3	0	1	1	2	1	3	1	3	3	1	3	1	3	1	8	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:38023339C>A	ENST00000541606.1	+	2	206	c.9C>A	c.(7-9)taC>taA	p.Y3*	DNALI1_ENST00000296218.7_Missense_Mutation_p.L95I			O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	0					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAATGCCATACTACCCCCAAG	0.537																																																	0													151	147	149					1																	38023339		2203	4300	6503	SO:0001587	stop_gained	0			AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"Axonemal dyneins"	14353	protein-coding gene	gene with protein product	"inner dynein arm, homolog of clamydomonas", "dJ423B22.5 (axonemal dynein light chain (hp28))"	602135	"dynein, axonemal, light intermediate polypeptide 1"			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000541606.1:c.9C>A	1.37:g.38023339C>A	ENSP00000438962:p.Tyr3*		A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Nonsense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.Y3*	ENST00000541606.1	37	c.9		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.134137|5.134137	0.94517|0.94517	.|.	.|.	ENSG00000163879|ENSG00000163879	ENST00000296218|ENST00000541606	T|.	0.60920|.	0.15|.	5.49|5.49	4.38|4.38	0.52667|0.52667	.|.	0.064910|.	0.56097|.	D|.	0.000022|.	T|.	0.67335|.	0.2882|.	M|M	0.71296|0.71296	2.17|2.17	0.80722|0.80722	A|A	1|1	D|.	0.69078|.	0.997|.	D|.	0.79108|.	0.992|.	T|.	0.74702|.	-0.3576|.	9|.	0.48119|.	T|.	0.1|.	-9.4866|-9.4866	12.4418|12.4418	0.55629|0.55629	0.0:0.9043:0.0:0.0957|0.0:0.9043:0.0:0.0957	.|.	73|.	O14645|.	IDLC_HUMAN|.	I|X	95|3	ENSP00000296218:L95I|.	ENSP00000296218:L95I|.	L|Y	+|+	1|3	2|2	DNALI1|DNALI1	37795926|37795926	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.795000|0.795000	0.44927|0.44927	1.870000|1.870000	0.39529|0.39529	2.576000|2.576000	0.86940|0.86940	0.591000|0.591000	0.81541|0.81541	CTA|TAC	DNALI1	-	NULL	ENSG00000163879		0.537	DNALI1-201	KNOWN	basic	protein_coding	DNALI1	HGNC	protein_coding			0	15	0	C	NM_003462		38023339	1			no_errors	ENST00000541606	ensembl	human	known	74_37	nonsense	20.00	16	4	SNP	1.000	A	A	38023339	C	A	38023339	4	1	175	1	0	0	0	0	0	1	0	0	4673	564	20	3	289	3	DNALI1	1	38023339	Nonsense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	25312044	38023339	211227282	3	43761											
KIAA0467	23334	genome.wustl.edu	37	chr1	43891189	43891189	+	Missense_Mutation	SNP	A	A	T	1	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	tgtggaagtggaggccctggAgggagactcagagctcaatc	10	7	16	8	0	2	2	2	0	0	2	3	6	2	5	1	5	1	1	1	5	2	0			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:43891189A>T	ENST00000562955.1	+	19	2690	c.2690A>T	c.(2689-2691)gAg>gTg	p.E897V	SZT2_ENST00000372442.1_Missense_Mutation_p.E55V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	897					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						GAGGCCCTGGAGGGAGACTCA	0.572																																																	0													123	127	126					1																	43891189		2203	4300	6503	SO:0001583	missense	0			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.2690A>T	1.37:g.43891189A>T	ENSP00000457168:p.Glu897Val		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.E897V	ENST00000562955.1	37	c.2690	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.032533	0.93575	.	.	ENSG00000198198	ENST00000372442	.	.	.	6.02	6.02	0.97574	.	0.169590	0.51477	D	0.000087	T	0.66636	0.2809	L	0.42245	1.32	0.39141	D	0.962032	D;D	0.67145	0.963;0.996	P;P	0.58266	0.776;0.836	T	0.71328	-0.4626	9	0.87932	D	0	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	897;897	Q5T011-4;Q5T011-5	.;.	V	55	.	ENSP00000361519:E55V	E	+	2	0	SZT2	43663776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.859000	0.92264	2.311000	0.77944	0.533000	0.62120	GAG	SZT2	-	NULL	ENSG00000198198		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	-	0	16	0	A	NM_015284		43891189	1	tier1	-	no_errors	ENST00000562955	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	T	T	43891189	A	T	43891189	3	4	175	1	0	0	0	0	1	0	0	0	8205	304	11	5	174	5	KIAA0467	1	43891189	Missense_Mutation	SNP	A	TCGA-VR-AA7D-01A-11D-A403-09	5867850	43891189	205359432	4	43762											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144916732	144916732	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttccaggcctttggccctCaggagactctccatactcta	8	11	7	15	0	3	1	1	0	2	1	5	2	4	1	4	3	1	0	4	3	2	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:144916732C>T	ENST00000369354.3	-	13	1812	c.1623G>A	c.(1621-1623)ctG>ctA	p.L541L	PDE4DIP_ENST00000369349.3_Silent_p.L541L|PDE4DIP_ENST00000479408.2_Silent_p.L328L|PDE4DIP_ENST00000313431.9_Silent_p.L704L|PDE4DIP_ENST00000369356.4_Silent_p.L541L|PDE4DIP_ENST00000313382.9_Silent_p.L607L|PDE4DIP_ENST00000529945.1_Silent_p.L704L|PDE4DIP_ENST00000369359.4_Silent_p.L678L|PDE4DIP_ENST00000530740.1_Silent_p.L678L|PDE4DIP_ENST00000369351.3_Silent_p.L541L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	541					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)		CTTTGGCCCTCAGGAGACTCT	0.423			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													185	208	200					1																	144916732		2203	4296	6499	SO:0001819	synonymous_variant	0			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.1623G>A	1.37:g.144916732C>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L541	ENST00000369354.3	37	c.1623	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL	ENSG00000178104		0.423	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0	74	0	C	NM_022359		144916732	-1	tier1	-	no_errors	ENST00000369356	ensembl	human	known	74_37	silent	22.32	87	25	SNP	1.000	T	T	144916732	C	T	144916732	2	4	175	1	0	0	0	0	0	0	0	1	11682	813	29	3		3	PDE4DIP	1	144916732	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	101025543	144916732	104333889	5	43763											
GON4L	54856	genome.wustl.edu	37	chr1	155740961	155740961	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtacttgctgattagaggaTtaggaaactcagttccttca	11	13	10	7	0	2	2	2	1	0	1	3	4	3	4	1	3	3	3	1	3	4	6			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:155740961T>A	ENST00000368331.1	-	19	2591	c.2543A>T	c.(2542-2544)aAt>aTt	p.N848I	GON4L_ENST00000271883.5_Missense_Mutation_p.N848I|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.N848I|GON4L_ENST00000361040.5_Missense_Mutation_p.N848I	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	848					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)					GATTAGAGGATTAGGAAACTC	0.408																																																	0													208	176	187					1																	155740961		2203	4300	6503	SO:0001583	missense	0			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.2543A>T	1.37:g.155740961T>A	ENSP00000357315:p.Asn848Ile		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.N848I	ENST00000368331.1	37	c.2543		1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908813	0.72868	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.12672	2.85;2.85;2.85;2.66	4.18	4.18	0.49190	.	0.303410	0.28104	N	0.016594	T	0.03651	0.0104	N	0.12182	0.205	0.29153	N	0.878243	P;P;P;P	0.44309	0.709;0.832;0.586;0.709	B;B;B;B	0.43754	0.43;0.248;0.126;0.249	T	0.37220	-0.9715	10	0.24483	T	0.36	.	13.0419	0.58904	0.0:0.0:0.0:1.0	.	848;44;848;848	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	I	848	ENSP00000396117:N848I;ENSP00000357315:N848I;ENSP00000271883:N848I;ENSP00000354322:N848I	ENSP00000271883:N848I	N	-	2	0	GON4L	154007585	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	6.848000	0.75409	1.745000	0.51790	0.482000	0.46254	AAT	GON4L	-	NULL	ENSG00000116580		0.408	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0	103	0	T	NM_032292		155740961	-1	tier1	-	no_errors	ENST00000368331	ensembl	human	known	74_37	missense	35.91	116	65	SNP	0.996	A	A	155740961	T	A	155740961	3	1	175	1	0	0	0	0	1	0	0	0	6598	1493	52	5	4352	5	GON4L	1	155740961	Missense_Mutation	SNP	T	TCGA-VR-AA7D-01A-11D-A403-09	10824229	155740961	93509660	6	43764											
FCRL6	343413	genome.wustl.edu	37	chr1	159779317	159779317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtattccttctaccttGatgagaagattgtggggaac	9	14	10	8	0	1	3	0	2	1	2	3	5	3	4	3	2	2	1	3	2	4	6			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:159779317G>T	ENST00000368106.3	+	5	731	c.730G>T	c.(730-732)Gat>Tat	p.D244Y	FCRL6_ENST00000339348.5_Missense_Mutation_p.D244Y|FCRL6_ENST00000321935.6_Missense_Mutation_p.D251Y|FCRL6_ENST00000392235.3_Missense_Mutation_p.D149Y	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	244	Ig-like C2-type 3.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D244N(1)		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)					CTTCTACCTTGATGAGAAGAT	0.587																																																	1	Substitution - Missense(1)	ovary(1)											75	71	72					1																	159779317		2203	4300	6503	SO:0001583	missense	0			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.730G>T	1.37:g.159779317G>T	ENSP00000357086:p.Asp244Tyr		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D244Y	ENST00000368106.3	37	c.730	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.082392	0.36758	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	3.91	-6.2	0.02072	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.142910	0.06898	N	0.805548	T	0.26629	0.0651	M	0.86343	2.81	0.09310	N	1	P;D;D;D	0.69078	0.824;0.997;0.992;0.994	P;D;D;P	0.66847	0.789;0.947;0.924;0.875	T	0.30179	-0.9987	9	.	.	.	.	6.3187	0.21204	0.6714:0.0:0.1878:0.1408	.	244;149;244;251	Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;FCRL6_HUMAN;.	Y	251;244;149;244	ENSP00000320625:D251Y;ENSP00000340949:D244Y;ENSP00000376068:D149Y;ENSP00000357086:D244Y	.	D	+	1	0	FCRL6	158045941	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.737000	0.04877	-1.251000	0.02494	-0.958000	0.02645	GAT	FCRL6	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000181036		0.587	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1		0	34	0	G	NM_001004310		159779317	1			no_errors	ENST00000368106	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.000	T	T	159779317	G	T	159779317	3	4	175	1	0	0	0	0	1	0	0	0	5821	1290	45	3	748	3	FCRL6	1	159779317	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	4038356	159779317	89471304	7	43765											
CD244	51744	genome.wustl.edu	37	chr1	160808261	160808261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatttctcctggttttcaGatccttgacatcttcgtaaa	8	17	7	9	1	3	3	1	2	2	1	6	3	4	3	2	1	0	2	2	1	2	6			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:160808261G>T	ENST00000368033.3	-	5	911	c.829C>A	c.(829-831)Ctg>Atg	p.L277M	CD244_ENST00000368034.4_Missense_Mutation_p.L272M|CD244_ENST00000368032.2_Missense_Mutation_p.L272M|CD244_ENST00000322302.7_Missense_Mutation_p.L180M|CD244_ENST00000481677.1_5'UTR			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	277					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGGTTTTCAGATCCTTGACA	0.473																																																	0													158	158	158					1																	160808261		2203	4300	6503	SO:0001583	missense	0			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.829C>A	1.37:g.160808261G>T	ENSP00000357012:p.Leu277Met		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom	p.L277M	ENST00000368033.3	37	c.829	CCDS53399.1	1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977861	0.34942	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	T;T;T;T	0.38401	1.14;1.14;1.51;1.14	4.38	-4.4	0.03600	.	4.400160	0.00397	N	0.000055	T	0.18425	0.0442	N	0.19112	0.55	0.09310	N	1	P;P;P	0.48503	0.899;0.855;0.911	P;B;P	0.53549	0.729;0.359;0.562	T	0.20472	-1.0274	10	0.54805	T	0.06	-12.2473	9.2914	0.37789	0.1665:0.5854:0.2482:0.0	.	180;277;272	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	M	272;277;180;272	ENSP00000357013:L272M;ENSP00000357012:L277M;ENSP00000313619:L180M;ENSP00000357011:L272M	ENSP00000313619:L180M	L	-	1	2	CD244	159074885	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-3.335000	0.00508	-0.611000	0.05709	0.655000	0.94253	CTG	CD244	-	NULL	ENSG00000122223		0.473	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	HGNC	protein_coding	OTTHUMT00000071469.1		0	81	0	G	NM_016382		160808261	-1			no_errors	ENST00000368033	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.000	T	T	160808261	G	T	160808261	3	4	175	1	0	0	0	0	1	0	0	0	2994	933	33	3	303	3	CD244	1	160808261	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	1028944	160808261	88442360	8	43766											
FAM5B	57795	genome.wustl.edu	37	chr1	177247739	177247739	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaaggctgcccgatgaccgGttcctgaactccacagctat	11	8	9	13	2	0	2	0	2	0	0	2	3	2	2	4	2	3	3	4	2	4	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:177247739G>T	ENST00000361539.4	+	7	1365	c.1053G>T	c.(1051-1053)cgG>cgT	p.R351R	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	351					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)											CCGATGACCGGTTCCTGAACT	0.567																																																	0													161	171	168					1																	177247739		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1053G>T	1.37:g.177247739G>T			O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	pfam_MACPF,smart_MACPF	p.R351	ENST00000361539.4	37	c.1053	CCDS1320.1	1																																																																																			BRINP2	-	NULL	ENSG00000198797		0.567	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	HGNC	protein_coding	OTTHUMT00000084599.1	-	0	40	0	G	NM_021165		177247739	1	tier1	-	no_errors	ENST00000361539	ensembl	human	known	74_37	silent	16.67	15	3	SNP	1.000	T	T	177247739	G	T	177247739	2	4	175	1	0	0	0	0	0	0	0	1	5615	1248	44	3		3	FAM5B	1	177247739	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	16439478	177247739	72002882	9	43767											
IER5	51278	genome.wustl.edu	37	chr1	181058181	181058181	+	Missense_Mutation	SNP	T	T	A	0	1	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	cagcgcccgccaagtctaccTgagcgacccgtgccccggcc	6	4	11	20	5	1	1	0	1	1	0	1	2	1	1	7	1	4	0	7	1	2	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:181058181T>A	ENST00000367577.4	+	1	544	c.143T>A	c.(142-144)cTg>cAg	p.L48Q	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	48										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CAAGTCTACCTGAGCGACCCG	0.736																																																	0													13	13	13					1																	181058181		2188	4264	6452	SO:0001583	missense	0			BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.143T>A	1.37:g.181058181T>A	ENSP00000356549:p.Leu48Gln		B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Missense_Mutation	SNP	pfam_IER	p.L48Q	ENST00000367577.4	37	c.143	CCDS1343.1	1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212466	0.79240	.	.	ENSG00000162783	ENST00000367577;ENST00000545568	T	0.22336	1.96	4.09	4.09	0.47781	.	0.000000	0.44483	U	0.000455	T	0.42539	0.1207	M	0.64404	1.975	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	T	0.40021	-0.9585	10	0.87932	D	0	-10.3957	13.0198	0.58779	0.0:0.0:0.0:1.0	.	48	Q5VY09	IER5_HUMAN	Q	48	ENSP00000356549:L48Q	ENSP00000356549:L48Q	L	+	2	0	IER5	179324804	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.079000	0.64431	1.612000	0.50221	0.260000	0.18958	CTG	IER5	-	pfam_IER	ENSG00000162783		0.736	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IER5	HGNC	protein_coding	OTTHUMT00000085142.1	-	0	24	0	T	NM_016545		181058181	1	tier1	-	no_errors	ENST00000367577	ensembl	human	known	74_37	missense	44.64	31	25	SNP	1.000	A	A	181058181	T	A	181058181	3	1	175	1	0	0	0	0	1	0	0	0	7535	1580	55	5	145	5	IER5	1	181058181	Missense_Mutation	SNP	T	TCGA-VR-AA7D-01A-11D-A403-09	3810442	181058181	68192440	10	43768											
FAM129A	116496	genome.wustl.edu	37	chr1	184853931	184853931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgttctccttctcactgGaggctaaagaaatattgaaa	13	12	9	7	0	2	2	1	1	2	1	4	4	2	3	1	2	0	2	1	2	5	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:184853931G>T	ENST00000367511.3	-	5	630	c.437C>A	c.(436-438)tCc>tAc	p.S146Y		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	146					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTTCTCACTGGAGGCTAAAGA	0.463																																																	0													78	78	78					1																	184853931		2203	4300	6503	SO:0001583	missense	0			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.437C>A	1.37:g.184853931G>T	ENSP00000356481:p.Ser146Tyr		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NULL	p.S146Y	ENST00000367511.3	37	c.437	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638451	0.67130	.	.	ENSG00000135842	ENST00000367511	T	0.17854	2.25	5.63	5.63	0.86233	.	0.469877	0.24287	N	0.039849	T	0.26991	0.0661	L	0.54323	1.7	0.38011	D	0.934555	D	0.59767	0.986	P	0.57152	0.814	T	0.03695	-1.1012	10	0.05436	T	0.98	-12.0507	15.1818	0.72965	0.0:0.0:1.0:0.0	.	146	Q9BZQ8	NIBAN_HUMAN	Y	146	ENSP00000356481:S146Y	ENSP00000356481:S146Y	S	-	2	0	FAM129A	183120554	1.000000	0.71417	0.246000	0.24233	0.881000	0.50899	6.538000	0.73852	2.653000	0.90120	0.650000	0.86243	TCC	FAM129A	-	NULL	ENSG00000135842		0.463	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	-	0	78	0	G			184853931	-1	tier1	-	no_errors	ENST00000367511	ensembl	human	known	74_37	missense	42.47	41	31	SNP	0.685	T	T	184853931	G	T	184853931	3	4	175	1	0	0	0	0	1	0	0	0	5455	1174	41	3	2389	3	FAM129A	1	184853931	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	3795750	184853931	64396690	11	43769											
LGR6	59352	genome.wustl.edu	37	chr1	202287572	202287572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtgggagaatacggggcctCcccactctgcctgccctacg	7	7	12	15	2	1	1	0	0	1	1	2	2	2	1	5	3	4	0	5	3	3	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:202287572C>T	ENST00000367278.3	+	18	2230	c.2141C>T	c.(2140-2142)tCc>tTc	p.S714F	LGR6_ENST00000439764.2_Missense_Mutation_p.S575F|LGR6_ENST00000255432.7_Missense_Mutation_p.S662F	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	714					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TACGGGGCCTCCCCACTCTGC	0.687																																																	0													35	34	34					1																	202287572		2203	4299	6502	SO:0001583	missense	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2141C>T	1.37:g.202287572C>T	ENSP00000356247:p.Ser714Phe		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.S714F	ENST00000367278.3	37	c.2141	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411465	0.62399	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	D;D;D	0.87887	-2.31;-2.31;-2.31	4.36	4.36	0.52297	.	0.064462	0.64402	D	0.000004	D	0.89451	0.6719	L	0.33485	1.01	0.58432	D	0.99999	D;D;D	0.71674	0.984;0.998;0.987	P;D;D	0.70935	0.879;0.964;0.971	D	0.88928	0.3371	10	0.38643	T	0.18	.	17.488	0.87693	0.0:1.0:0.0:0.0	.	575;662;714	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	F	714;662;575	ENSP00000356247:S714F;ENSP00000255432:S662F;ENSP00000387869:S575F	ENSP00000255432:S662F	S	+	2	0	LGR6	200554195	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.492000	0.81482	2.442000	0.82660	0.485000	0.47835	TCC	LGR6	-	pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	ENSG00000133067		0.687	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	-	0	27	0	C	NM_021636		202287572	1	tier1	-	no_errors	ENST00000367278	ensembl	human	known	74_37	missense	34.69	32	17	SNP	1.000	T	T	202287572	C	T	202287572	3	4	175	1	0	0	0	0	1	0	0	0	8787	855	30	3	2358	3	LGR6	1	202287572	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	17433641	202287572	46963049	12	43770											
MARK1	4139	genome.wustl.edu	37	chr1	220835505	220835505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagcaaatgagcttaagctGtaaagaagtccaaatttaca	18	10	7	6	0	0	2	0	1	0	1	1	2	1	2	1	0	4	4	1	0	8	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:220835505G>A	ENST00000366917.4	+	18	2651	c.2385G>A	c.(2383-2385)ctG>ctA	p.L795L	MARK1_ENST00000402574.1_Silent_p.L645L|MARK1_ENST00000366918.4_Silent_p.L758L|RP11-322F10.2_ENST00000446040.1_RNA					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGCTTAAGCTGTAAAGAAGTC	0.393																																																	0													43	44	43					1																	220835505		2203	4300	6503	SO:0001819	synonymous_variant	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2385G>A	1.37:g.220835505G>A				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.L795	ENST00000366917.4	37	c.2385	CCDS31029.2	1																																																																																			MARK1	-	pfam_KA1_dom,superfamily_KA1/Ssp2_C	ENSG00000116141		0.393	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1		0	21	0	G			220835505	1			no_errors	ENST00000366917	ensembl	human	known	74_37	silent	6.67	28	2	SNP	1.000	A	A	220835505	G	A	220835505	2	1	175	1	0	0	0	0	0	0	0	1	9350	1364	48	3		3	MARK1	1	220835505	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	18547933	220835505	28415116	13	43771											
OBSCN	84033	genome.wustl.edu	37	chr1	228560180	228560180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccagggctgagtcccagtCggaggagcagcaggaggcca	9	3	18	11	1	0	1	0	1	0	0	2	4	1	4	3	6	2	3	3	6	0	0			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:228560180C>T	ENST00000422127.1	+	94	21745	c.21701C>T	c.(21700-21702)tCg>tTg	p.S7234L	OBSCN_ENST00000570156.2_Missense_Mutation_p.S8191L|OBSCN_ENST00000366707.4_Missense_Mutation_p.S4868L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7234					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)				GAGTCCCAGTCGGAGGAGCAG	0.692																																																	0													13	16	15					1																	228560180		2078	4201	6279	SO:0001583	missense	0			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.21701C>T	1.37:g.228560180C>T	ENSP00000409493:p.Ser7234Leu		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.S7234L	ENST00000422127.1	37	c.21701	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	8.815	0.936135	0.18206	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.66638	-0.22;-0.11	1.05	1.05	0.20165	.	0.809039	0.10715	N	0.642420	T	0.49423	0.1556	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.36311	-0.9753	10	0.44086	T	0.13	.	4.8189	0.13381	0.0:0.6012:0.3988:0.0	.	7234	Q5VST9	OBSCN_HUMAN	L	7234;4868	ENSP00000409493:S7234L;ENSP00000355668:S4868L	ENSP00000355668:S4868L	S	+	2	0	OBSCN	226626803	0.010000	0.17322	0.611000	0.29010	0.365000	0.29674	0.720000	0.25896	0.119000	0.18210	0.121000	0.15741	TCG	OBSCN	-	NULL	ENSG00000154358		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	64	0	C	NM_052843		228560180	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	38.96	47	30	SNP	0.000	T	T	228560180	C	T	228560180	3	4	175	1	0	0	0	0	1	0	0	0	10851	893	31	1	23281	1	OBSCN	1	228560180	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	7724675	228560180	20690441	14	43772											
TRIM17	51127	genome.wustl.edu	37	chr1	228602544	228602544	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccttggtcagcagccggTtgggcagcaggttcctctgc	5	9	13	14	1	2	0	1	0	1	0	3	0	3	0	4	4	4	5	4	4	0	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:228602544T>A	ENST00000366697.2	-	1	1186	c.230A>T	c.(229-231)aAc>aTc	p.N77I	TRIM17_ENST00000366698.2_Missense_Mutation_p.N77I|TRIM17_ENST00000456946.2_Missense_Mutation_p.N77I|TRIM17_ENST00000295033.3_Missense_Mutation_p.N77I			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	77					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CAGCAGCCGGTTGGGCAGCAG	0.642																																																	0													50	50	50					1																	228602544		2203	4300	6503	SO:0001583	missense	0			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.230A>T	1.37:g.228602544T>A	ENSP00000355658:p.Asn77Ile		B4DVJ2|Q5VST8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.N77I	ENST00000366697.2	37	c.230	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529875	0.64860	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800;ENST00000355586	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	4.82	4.82	0.62117	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.46145	D	0.000305	T	0.48978	0.1530	M	0.88241	2.94	0.36149	D	0.847307	D;D	0.89917	1.0;0.961	D;P	0.97110	1.0;0.708	T	0.63795	-0.6556	10	0.87932	D	0	.	8.4377	0.32797	0.1744:0.0:0.0:0.8256	.	77;77	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	I	77;77;77;77;50;77	ENSP00000355658:N77I;ENSP00000355659:N77I;ENSP00000295033:N77I;ENSP00000403312:N77I;ENSP00000430468:N50I;ENSP00000347794:N77I	ENSP00000295033:N77I	N	-	2	0	TRIM17	226669167	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	1.561000	0.36342	2.107000	0.64212	0.533000	0.62120	AAC	TRIM17	-	NULL	ENSG00000162931		0.642	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	-	0	67	0	T	NM_016102		228602544	-1	tier1	-	no_errors	ENST00000295033	ensembl	human	known	74_37	missense	28.05	58	23	SNP	1.000	A	A	228602544	T	A	228602544	3	1	175	1	0	0	0	0	1	0	0	0	16541	1725	60	5	1376	5	TRIM17	1	228602544	Missense_Mutation	SNP	T	TCGA-VR-AA7D-01A-11D-A403-09	42364	228602544	20648077	15	43773											
CNST	163882	genome.wustl.edu	37	chr1	246784932	246784932	+	Missense_Mutation	SNP	A	A	G	1	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	agcacttcccctttgccttcAtcaggtactctggtaaaccc	8	12	6	15	0	3	0	2	0	1	0	4	0	4	0	4	2	4	3	4	2	3	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr1:246784932A>G	ENST00000366513.4	+	3	850	c.581A>G	c.(580-582)cAt>cGt	p.H194R	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.H194R	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	194					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						CTTTGCCTTCATCAGGTACTC	0.493																																																	0													132	125	128					1																	246784932		2203	4300	6503	SO:0001583	missense	0			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.581A>G	1.37:g.246784932A>G	ENSP00000355470:p.His194Arg		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	NULL	p.H194R	ENST00000366513.4	37	c.581	CCDS1628.1	1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129034	0.77549	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.24908	1.83;1.83	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56655	-0.7943	10	0.87932	D	0	0.0038	12.9166	0.58209	1.0:0.0:0.0:0.0	.	194;194	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	R	194	ENSP00000355470:H194R;ENSP00000355469:H194R	ENSP00000355469:H194R	H	+	2	0	CNST	244851555	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.969000	0.63735	2.064000	0.61679	0.533000	0.62120	CAT	CNST	-	NULL	ENSG00000162852		0.493	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNST	HGNC	protein_coding	OTTHUMT00000096780.1	-	0	45	0	A	NM_152609		246784932	1	tier1	-	no_errors	ENST00000366513	ensembl	human	known	74_37	missense	64.10	14	25	SNP	1.000	G	G	246784932	A	G	246784932	3	3	175	1	0	0	0	0	1	0	0	0	3641	217	8	4	587	4	CNST	1	246784932	Missense_Mutation	SNP	A	TCGA-VR-AA7D-01A-11D-A403-09	18182388	246784932	2465689	16	43774											
TPO	7173	genome.wustl.edu	37	chr2	1500468	1500468	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctgccggcacgggtatGagctccaaggccgggagcag	8	6	15	12	3	0	1	0	1	0	0	2	2	2	2	4	4	3	4	4	4	2	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr2:1500468G>T	ENST00000345913.4	+	13	2408	c.2317G>T	c.(2317-2319)Gag>Tag	p.E773*	TPO_ENST00000349624.3_Nonsense_Mutation_p.E600*|TPO_ENST00000337415.3_Nonsense_Mutation_p.E773*|TPO_ENST00000329066.4_Nonsense_Mutation_p.E773*|TPO_ENST00000382201.3_Nonsense_Mutation_p.E716*|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Nonsense_Mutation_p.E600*|TPO_ENST00000346956.3_Nonsense_Mutation_p.E773*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	773	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	GCACGGGTATGAGCTCCAAGG	0.562																																																	0													148	146	147					2																	1500468		2203	4300	6503	SO:0001587	stop_gained	0				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.2317G>T	2.37:g.1500468G>T	ENSP00000318820:p.Glu773*		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.E773*	ENST00000345913.4	37	c.2317	CCDS1643.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.554390|4.554390	0.86231|0.86231	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607|ENST00000446278	.|.	.|.	.|.	5.14|5.14	-3.52|-3.52	0.04682|0.04682	.|.	1.155990|.	0.06236|.	N|.	0.689607|.	.|T	.|0.35998	.|0.0951	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40270	.|-0.9572	.|4	0.05351|.	T|.	0.99|.	-7.0889|-7.0889	13.3446|13.3446	0.60564|0.60564	0.1431:0.6253:0.2316:0.0|0.1431:0.6253:0.2316:0.0	.|.	.|.	.|.	.|.	X|I	773;773;773;600;773;716;600;702;247|247	.|.	ENSP00000329869:E773X|.	E|M	+|+	1|3	0|0	TPO|TPO	1479475|1479475	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.029000|0.029000	0.13666|0.13666	-0.541000|-0.541000	0.06257|0.06257	0.591000|0.591000	0.81541|0.81541	GAG|ATG	TPO	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000115705		0.562	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	-	0	37	0	G	NM_000547		1500468	1	tier1	-	no_errors	ENST00000329066	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.000	T	T	1500468	G	T	1500468	4	4	175	1	0	0	0	0	0	1	0	0	16458	1291	45	3	2363	3	TPO	2	1500468	Nonsense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		1500468	241698905	17	43775											
NT5C1B	93034	genome.wustl.edu	37	chr2	18768420	18768420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatctcagcgagtgattcGgattgactgcacgcctcatc	10	10	9	12	3	2	2	2	2	1	0	5	4	2	3	1	1	3	1	1	1	1	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr2:18768420G>T	ENST00000359846.2	-	3	217	c.140C>A	c.(139-141)cCg>cAg	p.P47Q	NT5C1B_ENST00000600945.1_Missense_Mutation_p.P47Q|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.P47Q|NT5C1B_ENST00000304081.4_Intron|NT5C1B_ENST00000460052.1_Intron	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	47					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)				CGAGTGATTCGGATTGACTGC	0.562																																																	0													52	42	45					2																	18768420		2203	4300	6503	SO:0001583	missense	0			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.140C>A	2.37:g.18768420G>T	ENSP00000352904:p.Pro47Gln		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	pfam_5-nucleotidase	p.P47Q	ENST00000359846.2	37	c.140	CCDS33150.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009517	0.75046	.	.	ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000359846;ENST00000416783	.	.	.	5.39	5.39	0.77823	.	0.141782	0.32785	N	0.005655	T	0.46580	0.1400	N	0.14661	0.345	0.28901	N	0.893298	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.69654	0.946;0.923;0.965	T	0.46707	-0.9172	9	0.87932	D	0	-16.4599	14.5287	0.67909	0.0:0.0:1.0:0.0	.	47;47;47	B4DZ86;Q96P26;Q96P26-4	.;5NT1B_HUMAN;.	Q	47	.	ENSP00000352904:P47Q	P	-	2	0	NT5C1B-RDH14;NT5C1B	18631901	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.235000	0.58666	2.809000	0.96659	0.467000	0.42956	CCG	NT5C1B	-	NULL	ENSG00000185013		0.562	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1	-	0	22	0	G			18768420	-1	tier1	-	no_errors	ENST00000359846	ensembl	human	known	74_37	missense	70.59	5	12	SNP	1.000	T	T	18768420	G	T	18768420	3	4	175	1	0	0	0	0	1	0	0	0	10725	1116	39	2	1724	2	NT5C1B	2	18768420	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	17267952	18768420	224430953	18	43776											
TCF7L1	83439	genome.wustl.edu	37	chr2	85361007	85361007	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctagacgaggtcaagtCgtccctggtcaacgagtcgg	9	7	14	11	4	2	1	2	0	0	1	5	4	3	2	2	4	1	0	2	4	3	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr2:85361007C>A	ENST00000282111.3	+	1	475	c.200C>A	c.(199-201)tCg>tAg	p.S67*		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	67	CTNNB1-binding. {ECO:0000250}.				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						GAGGTCAAGTCGTCCCTGGTC	0.692																																																	0													22	22	22					2																	85361007		2181	4263	6444	SO:0001587	stop_gained	0			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.200C>A	2.37:g.85361007C>A	ENSP00000282111:p.Ser67*		Q53R97|Q6PD70|Q9NP00	Nonsense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S67*	ENST00000282111.3	37	c.200	CCDS1971.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.152664	0.98680	.	.	ENSG00000152284	ENST00000282111	.	.	.	3.92	3.01	0.34805	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.808	0.34950	0.0:0.8837:0.0:0.1163	.	.	.	.	X	67	.	ENSP00000282111:S67X	S	+	2	0	TCF7L1	85214518	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.699000	0.74613	1.881000	0.54492	0.563000	0.77884	TCG	TCF7L1	-	pfam_CTNNB1-bd_N	ENSG00000152284		0.692	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	HGNC	protein_coding	OTTHUMT00000252301.2	-	0	48	0	C	NM_031283		85361007	1	tier1	-	no_errors	ENST00000282111	ensembl	human	known	74_37	nonsense	28.30	38	15	SNP	1.000	A	A	85361007	C	A	85361007	4	1	175	1	0	0	0	0	0	1	0	0	15744	893	31	2	202	2	TCF7L1	2	85361007	Nonsense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	66592587	85361007	157838366	19	43777											
LCT	3938	genome.wustl.edu	37	chr2	136564749	136564749	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccctcaggaaaccgtccGtacagaaactcatcctccct	12	7	6	16	2	2	1	2	0	0	1	5	2	5	2	5	1	4	1	5	1	4	1	rs557321611		TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr2:136564749G>T	ENST00000264162.2	-	9	4132	c.4122C>A	c.(4120-4122)taC>taA	p.Y1374*	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1374	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)	GAAACCGTCCGTACAGAAACT	0.567																																																	0													193	149	164					2																	136564749		2203	4300	6503	SO:0001587	stop_gained	0			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.4122C>A	2.37:g.136564749G>T	ENSP00000264162:p.Tyr1374*		Q4ZG58	Nonsense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.Y1374*	ENST00000264162.2	37	c.4122	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860161	0.91433	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	.	.	.	5.87	-8.41	0.00961	.	0.116121	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.629	17.2517	0.87044	0.4483:0.0:0.5517:0.0	.	.	.	.	X	1374;806	.	ENSP00000264162:Y1374X	Y	-	3	2	LCT	136281219	0.867000	0.29959	0.046000	0.18839	0.557000	0.35523	0.146000	0.16180	-1.957000	0.01021	-0.812000	0.03155	TAC	LCT	-	superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.567	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0	59	0	G	NM_002299		136564749	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	0.786	T	T	136564749	G	T	136564749	4	4	175	1	0	0	0	0	0	1	0	0	8721	1140	40	2	1697	2	LCT	2	136564749	Nonsense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	51203742	136564749	106634624	20	43778											
CCDC141	285025	genome.wustl.edu	37	chr2	179736884	179736884	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagttgctctttgaatgcCgcccactgctgttttccagg	6	15	9	11	1	1	1	0	1	1	0	2	1	2	1	3	1	3	4	3	1	2	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr2:179736884C>T	ENST00000420890.2	-	13	2172	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	CCDC141_ENST00000295723.5_Silent_p.A110A	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	685										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)			CTTTGAATGCCGCCCACTGCT	0.483																																																	0													143	116	125					2																	179736884		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2055G>A	2.37:g.179736884C>T			H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A685	ENST00000420890.2	37	c.2055		2																																																																																			CCDC141	-	NULL	ENSG00000163492		0.483	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		-	0	45	0	C	NM_173648		179736884	-1	tier1	-	no_errors	ENST00000420890	ensembl	human	known	74_37	silent	45.61	31	26	SNP	0.010	T	T	179736884	C	T	179736884	2	4	175	1	0	0	0	0	0	0	0	1	2782	639	23	1		1	CCDC141	2	179736884	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	43172135	179736884	63462489	21	43779											
TNS1	7145	genome.wustl.edu	37	chr2	218750792	218750792	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagatgtgtacacaggttGcatggcctggtagatgcgga	9	9	15	8	1	0	2	0	0	0	2	0	3	0	3	2	4	3	4	2	4	2	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr2:218750792G>A	ENST00000171887.4	-	12	1092	c.640C>T	c.(640-642)Caa>Taa	p.Q214*	TNS1_ENST00000419504.1_Nonsense_Mutation_p.Q214*|TNS1_ENST00000430930.1_Nonsense_Mutation_p.Q214*|TNS1_ENST00000310858.6_Nonsense_Mutation_p.Q245*	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	214	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TACACAGGTTGCATGGCCTGG	0.552																																																	0													128	118	121					2																	218750792		2203	4300	6503	SO:0001587	stop_gained	0			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.640C>T	2.37:g.218750792G>A	ENSP00000171887:p.Gln214*		Q4ZG71|Q6IPI5	Nonsense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Q214*	ENST00000171887.4	37	c.640	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.997460	0.97990	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.4107	0.87485	0.0:0.0:1.0:0.0	.	.	.	.	X	214;214;214;339;282;245	.	ENSP00000171887:Q214X	Q	-	1	0	TNS1	218459037	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.356000	0.97091	2.646000	0.89796	0.561000	0.74099	CAA	TNS1	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom	ENSG00000079308		0.552	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	-	0	33	0	G	NM_022648		218750792	-1	tier1	-	no_errors	ENST00000171887	ensembl	human	known	74_37	nonsense	8.70	42	4	SNP	1.000	A	A	218750792	G	A	218750792	4	1	175	1	0	0	0	0	0	1	0	0	16390	1328	46	3	4655	3	TNS1	2	218750792	Nonsense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	39013908	218750792	24448581	22	43780											
DTYMK	1841	genome.wustl.edu	37	chr2	242615582	242615582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcttctctgtggcagtgCggatggcgtcctcagagagc	5	9	16	11	3	2	1	1	0	1	1	4	3	3	2	1	4	2	2	1	4	0	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr2:242615582C>T	ENST00000305784.2	-	5	806	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	200					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		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;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-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;0.0825)		TGTGGCAGTGCGGATGGCGTC	0.607																																																	0													61	54	56					2																	242615582		2203	4296	6499	SO:0001583	missense	0			X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"dTMP kinase", "thymidylate (dTMP) kinase"	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.599G>A	2.37:g.242615582C>T	ENSP00000304802:p.Arg200His		B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase	p.R200H	ENST00000305784.2	37	c.599	CCDS2552.1	2	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826962	0.32329	.	.	ENSG00000168393	ENST00000305784	D	0.94457	-3.43	5.47	-10.9	0.00192	.	1.717780	0.02835	N	0.127205	D	0.87051	0.6081	L	0.33485	1.01	0.09310	N	1	P;B	0.46784	0.884;0.001	B;B	0.35607	0.206;0.001	D	0.84442	0.0583	10	0.46703	T	0.11	0.6327	8.676	0.34179	0.1994:0.0823:0.0682:0.6501	.	176;200	B7ZW70;P23919	.;KTHY_HUMAN	H	200	ENSP00000304802:R200H	ENSP00000304802:R200H	R	-	2	0	DTYMK	242264255	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.732000	0.01851	-3.922000	0.00091	-0.127000	0.14921	CGC	DTYMK	-	superfamily_P-loop_NTPase	ENSG00000168393		0.607	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTYMK	HGNC	protein_coding	OTTHUMT00000257266.2		0	30	0	C	NM_012145		242615582	-1			no_errors	ENST00000305784	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.000	T	T	242615582	C	T	242615582	3	4	175	1	0	0	0	0	1	0	0	0	4812	768	27	1	43	1	DTYMK	2	242615582	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	23864790	242615582	583791	23	43781											
SETD2	29072	genome.wustl.edu	37	chr3	47098822	47098822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tataaccaagagagtcatagGgcagtggtgatgtcattccc	12	10	11	8	0	2	2	2	1	0	1	3	3	3	2	2	2	1	1	2	2	4	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr3:47098822G>A	ENST00000409792.3	-	15	6494	c.6452C>T	c.(6451-6453)cCc>cTc	p.P2151L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2151	Low charge region.|Pro-rich.				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)		AGAGTCATAGGGCAGTGGTGA	0.522			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													200	184	190					3																	47098822		2203	4300	6503	SO:0001583	missense	0			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.6452C>T	3.37:g.47098822G>A	ENSP00000386759:p.Pro2151Leu		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.P2151L	ENST00000409792.3	37	c.6452	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987118	0.74589	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.44482	0.92	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000017	T	0.42063	0.1186	L	0.43152	1.355	0.48452	D	0.999659	P;P	0.49185	0.92;0.92	B;B	0.42386	0.386;0.386	T	0.42916	-0.9423	10	0.66056	D	0.02	.	19.3982	0.94617	0.0:0.0:1.0:0.0	.	2151;2151	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	2151	ENSP00000386759:P2151L	ENSP00000386759:P2151L	P	-	2	0	SETD2	47073826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.058000	0.57463	2.894000	0.99253	0.655000	0.94253	CCC	SETD2	-	NULL	ENSG00000181555		0.522	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	-	0	43	0	G	NM_014159		47098822	-1	tier1	-	no_errors	ENST00000409792	ensembl	human	known	74_37	missense	61.90	16	26	SNP	1.000	A	A	47098822	G	A	47098822	3	1	175	1	0	0	0	0	1	0	0	0	14176	1232	43	3	1270	3	SETD2	3	47098822	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		47098822	150923608	24	43782											
FAM3D	131177	genome.wustl.edu	37	chr3	58635041	58635041	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	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	tggggctgcacagatactcaCggatctccttggtgggcgag	7	9	15	10	2	2	1	1	0	1	1	3	3	2	2	1	5	2	2	1	5	1	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr3:58635041C>T	ENST00000358781.2	-	4	456		c.e4+1			NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D						negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CAGATACTCACGGATCTCCTT	0.627																																																	0													90	84	86					3																	58635041		2203	4300	6503	SO:0001630	splice_region_variant	0			AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.145+1G>A	3.37:g.58635041C>T			Q547G2	Splice_Site	SNP	-	e3+1	ENST00000358781.2	37	c.145+1	CCDS2893.1	3	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440609	0.25900	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000489857;ENST00000498347	.	.	.	3.66	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3021	0.37851	0.0:0.7807:0.2193:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM3D	58610081	0.975000	0.34042	0.564000	0.28396	0.081000	0.17604	1.691000	0.37721	1.103000	0.41568	0.491000	0.48974	.	FAM3D	-	-	ENSG00000198643		0.627	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3D	HGNC	protein_coding	OTTHUMT00000353494.1	-	0	44	0	C	NM_138805	Intron	58635041	-1	tier1	-	no_errors	ENST00000358781	ensembl	human	known	74_37	splice_site	44.44	20	16	SNP	0.627	T	T	58635041	C	T	58635041	5	4	175	1	0	0	0	0	0	0	1	0	5581	550	19	1	556	1	FAM3D	3	58635041	Splice_Site	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	11536219	58635041	139387389	25	43783											
LRIG1	26018	genome.wustl.edu	37	chr3	66436586	66436586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccatgtctgcattggtcagGacttcattgtctttcttcca	6	17	7	11	0	5	0	2	0	3	0	7	1	7	1	2	2	1	1	2	2	0	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr3:66436586G>A	ENST00000273261.3	-	13	2132	c.1608C>T	c.(1606-1608)gtC>gtT	p.V536V	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Silent_p.V560V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	536	Ig-like C2-type 1.				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)		CATTGGTCAGGACTTCATTGT	0.562																																																	0													260	245	250					3																	66436586		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1608C>T	3.37:g.66436586G>A			Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V536	ENST00000273261.3	37	c.1608	CCDS33783.1	3																																																																																			LRIG1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000144749		0.562	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	-	0	73	0	G	NM_015541		66436586	-1	tier1	-	no_errors	ENST00000273261	ensembl	human	known	74_37	silent	52.00	12	13	SNP	0.994	A	A	66436586	G	A	66436586	2	1	175	1	0	0	0	0	0	0	0	1	8979	1161	41	3		3	LRIG1	3	66436586	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	7801545	66436586	131585844	26	43784											
NPHP3	27031	genome.wustl.edu	37	chr3	132415603	132415604	+	Frame_Shift_Ins	INS	-	-	A																															attttgccgaaaagggtgacINSataaagggcattgcaggttg																										TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr3:132415603_132415604insA	ENST00000337331.5	-	15	2228_2229	c.2142_2143insT	c.(2140-2145)tatgtcfs	p.V715fs	NPHP3_ENST00000326682.8_Intron	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	715					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAAAGGGTGACATAAAGGGCAT	0.436																																																	0																																										SO:0001589	frameshift_variant	0			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2143dupT	3.37:g.132415604_132415604dupA	ENSP00000338766:p.Val715fs		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Frame_Shift_Ins	INS	pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V714fs	ENST00000337331.5	37	c.2143_2142	CCDS3078.1	3																																																																																			NPHP3	-	superfamily_P-loop_NTPase	ENSG00000113971		0.436	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2		0	48	0	-	NM_153240		132415604	-1	tier1		no_errors	ENST00000337331	ensembl	human	known	74_37	frame_shift_ins	24.64	52	17	INS	1.000:1.000	A	A	132415604	-	A	132415603	7	5	175	1	0	1	1	0	0	0	0	0	10619	478	17	0	1901	0	NPHP3	3	132415603	Frame_Shift_Ins	INS	-	TCGA-VR-AA7D-01A-11D-A403-09	65979017	132415603	65606827	27	43785											
AMBN	258	genome.wustl.edu	37	chr4	71467239	71467239	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtctgctgctgcaacCaccaaccaggccacagcact	10	6	7	18	0	1	0	0	0	1	0	2	0	2	0	5	1	6	4	5	1	2	0			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr4:71467239C>A	ENST00000322937.6	+	6	502	c.399C>A	c.(397-399)acC>acA	p.T133T	AMBN_ENST00000449493.2_Silent_p.T118T	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	133					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CTGCTGCAACCACCAACCAGG	0.542											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													145	139	141					4																	71467239		2203	4300	6503	SO:0001819	synonymous_variant	0			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.399C>A	4.37:g.71467239C>A		1130	Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	pfam_Amelin,smart_Amelin	p.T133	ENST00000322937.6	37	c.399	CCDS3543.1	4																																																																																			AMBN	-	pfam_Amelin,smart_Amelin	ENSG00000178522		0.542	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBN	HGNC	protein_coding	OTTHUMT00000252165.1		0	40	0	C	NM_016519		71467239	1			no_errors	ENST00000322937	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.000	A	A	71467239	C	A	71467239	2	1	175	1	0	0	0	0	0	0	0	1	563	581	21	3		3	AMBN	4	71467239	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09		71467239	119687037	28	43786											
FGF5	2250	genome.wustl.edu	37	chr4	81188197	81188197	+	Silent	SNP	C	C	T	0	0	0	1	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	ctgggcagccaaggaagtggCttggagcagagcagtttcca	10	7	15	9	0	0	1	0	0	0	1	1	3	1	3	2	4	3	5	2	4	2	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr4:81188197C>T	ENST00000312465.7	+	1	445	c.219C>T	c.(217-219)ggC>ggT	p.G73G	FGF5_ENST00000456523.3_Silent_p.G73G	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	73					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AAGGAAGTGGCTTGGAGCAGA	0.622																																																	0													61	67	65					4																	81188197		2203	4300	6503	SO:0001819	synonymous_variant	0			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.219C>T	4.37:g.81188197C>T			B2R554|O75846|Q3Y8M3|Q8NF90	Silent	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.G73	ENST00000312465.7	37	c.219	CCDS34021.1	4																																																																																			FGF5	-	NULL	ENSG00000138675		0.622	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF5	HGNC	protein_coding	OTTHUMT00000252627.2	-	0	78	0	C			81188197	1	tier1	-	no_errors	ENST00000312465	ensembl	human	known	74_37	silent	28.05	59	23	SNP	1.000	T	T	81188197	C	T	81188197	2	4	175	1	0	0	0	0	0	0	0	1	5877	784	28	3		3	FGF5	4	81188197	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	9720958	81188197	109966079	29	43787											
HERC3	8916	genome.wustl.edu	37	chr4	89571101	89571101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttggggtgcagggagtGatggtcagctaggactcatg	7	12	16	6	0	3	1	2	1	1	0	3	3	3	3	0	5	2	2	0	5	1	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr4:89571101G>A	ENST00000402738.1	+	4	576	c.337G>A	c.(337-339)Gat>Aat	p.D113N	HERC3_ENST00000264345.3_Missense_Mutation_p.D113N|HERC3_ENST00000407637.1_Missense_Mutation_p.D113N	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	113					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGCAGGGAGTGATGGTCAGCT	0.507																																																	0													166	160	162					4																	89571101		2203	4300	6503	SO:0001583	missense	0			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.337G>A	4.37:g.89571101G>A	ENSP00000385684:p.Asp113Asn		A8K1S5|Q8IXX3	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.D113N	ENST00000402738.1	37	c.337	CCDS34028.1	4	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180421	0.57800	.	.	ENSG00000138641	ENST00000402738;ENST00000431413;ENST00000407637;ENST00000426683;ENST00000452979;ENST00000264345	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.32	5.32	0.75619	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.154341	0.56097	D	0.000022	T	0.80243	0.4587	N	0.11651	0.15	0.80722	D	1	B;D	0.53312	0.203;0.959	B;P	0.50860	0.117;0.652	T	0.79337	-0.1845	9	.	.	.	.	19.1954	0.93686	0.0:0.0:1.0:0.0	.	113;113	Q15034;Q8IXX3	HERC3_HUMAN;.	N	113	ENSP00000385684:D113N;ENSP00000405863:D113N;ENSP00000384005:D113N;ENSP00000389991:D113N;ENSP00000406210:D113N;ENSP00000264345:D113N	.	D	+	1	0	HERC3	89790124	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.133000	0.71682	2.772000	0.95346	0.650000	0.86243	GAT	HERC3	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens	ENSG00000138641		0.507	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC3	HGNC	protein_coding	OTTHUMT00000318081.2	-	0	52	0	G	NM_014606		89571101	1	tier1	-	no_errors	ENST00000264345	ensembl	human	known	74_37	missense	37.18	49	29	SNP	1.000	A	A	89571101	G	A	89571101	3	1	175	1	0	0	0	0	1	0	0	0	7086	1290	45	3	343	3	HERC3	4	89571101	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	8382904	89571101	101583175	30	43788											
RICTOR	253260	genome.wustl.edu	37	chr5	38945607	38945607	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttacctgaatgactacatAttgcactcagttggttgctg	10	14	8	9	0	1	2	1	2	0	0	1	2	1	2	1	1	4	4	1	1	4	6			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr5:38945607A>T	ENST00000357387.3	-	34	4649	c.4619T>A	c.(4618-4620)aTa>aAa	p.I1540K	RICTOR_ENST00000296782.5_Missense_Mutation_p.I1564K	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATGACTACATATTGCACTCAG	0.393																																																	0													120	110	114					5																	38945607		2203	4300	6503	SO:0001583	missense	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4619T>A	5.37:g.38945607A>T	ENSP00000349959:p.Ile1540Lys			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I1564K	ENST00000357387.3	37	c.4691	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732249	0.48939	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.44083	0.94;0.93	5.63	4.32	0.51571	.	0.359552	0.32028	N	0.006683	T	0.20129	0.0484	N	0.08118	0	0.42181	D	0.991684	B;B	0.16166	0.016;0.016	B;B	0.16289	0.015;0.015	T	0.11227	-1.0596	10	0.87932	D	0	-10.4413	3.9945	0.09551	0.7814:0.0:0.2186:0.0	.	1540;1564	Q6R327;Q6R327-3	RICTR_HUMAN;.	K	1540;1564	ENSP00000349959:I1540K;ENSP00000296782:I1564K	ENSP00000296782:I1564K	I	-	2	0	RICTOR	38981364	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.653000	0.67967	2.270000	0.75569	0.460000	0.39030	ATA	RICTOR	-	NULL	ENSG00000164327		0.393	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	-	0	68	0	A	NM_152756		38945607	-1	tier1	-	no_errors	ENST00000296782	ensembl	human	known	74_37	missense	30.65	43	19	SNP	0.925	T	T	38945607	A	T	38945607	3	4	175	1	0	0	0	0	1	0	0	0	13403	449	16	5	527	5	RICTOR	5	38945607	Missense_Mutation	SNP	A	TCGA-VR-AA7D-01A-11D-A403-09		38945607	141969653	31	43789											
SGTB	54557	genome.wustl.edu	37	chr5	65000152	65000152	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	gggatccaattctattgcctGtgtgtaacaatccactgcag	10	12	9	10	0	1	0	0	0	1	0	3	1	3	1	3	1	3	2	3	1	4	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr5:65000152G>C	ENST00000381007.4	-	5	563	c.328C>G	c.(328-330)Cag>Gag	p.Q110E		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	110										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)		TCTATTGCCTGTGTGTAACAA	0.323																																																	0													157	146	149					5																	65000152		2203	4300	6503	SO:0001583	missense	0			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.328C>G	5.37:g.65000152G>C	ENSP00000370395:p.Gln110Glu			Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q110E	ENST00000381007.4	37	c.328	CCDS3988.1	5	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988659	0.35131	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.59083	0.29;0.29	5.35	4.47	0.54385	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.291581	0.38778	N	0.001578	T	0.33789	0.0875	N	0.05467	-0.045	0.38261	D	0.941872	B	0.10296	0.003	B	0.12156	0.007	T	0.24870	-1.0148	10	0.06236	T	0.91	-11.6481	14.2384	0.65941	0.0:0.0:0.8493:0.1507	.	110	Q96EQ0	SGTB_HUMAN	E	110	ENSP00000370395:Q110E;ENSP00000421447:Q110E	ENSP00000370395:Q110E	Q	-	1	0	SGTB	65035908	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.901000	0.63259	1.227000	0.43598	0.655000	0.94253	CAG	SGTB	-	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000197860		0.323	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	HGNC	protein_coding	OTTHUMT00000215057.2	-	0	89	0	G	NM_019072		65000152	-1	tier1	-	no_errors	ENST00000381007	ensembl	human	known	74_37	missense	33.33	104	52	SNP	0.997	C	C	65000152	G	C	65000152	3	2	175	1	0	0	0	0	1	0	0	0	14271	1386	48	5	614	5	SGTB	5	65000152	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	26054545	65000152	115915108	32	43790											
C5orf46	389336	genome.wustl.edu	37	chr5	147281335	147281335	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcttgtctggtttgtcGtctgaaaaacaacagaatct	10	14	9	8	1	4	2	0	1	4	1	5	2	4	2	0	2	2	2	0	2	4	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr5:147281335G>C	ENST00000318315.4	-	2	72	c.72C>G	c.(70-72)gaC>gaG	p.D24E	C5orf46_ENST00000510432.1_5'UTR|C5orf46_ENST00000515291.1_Splice_Site_p.D24E	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	24						extracellular vesicular exosome (GO:0070062)				NS(1)|lung(1)|prostate(1)	3						cTGGTTTGTCGTCTGAAAAAC	0.488																																																	0													160	143	149					5																	147281335		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"skin and saliva secreted protein 1"						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.71-1C>G	5.37:g.147281335G>C			A8K038|Q8WU04	Missense_Mutation	SNP	NULL	p.D24E	ENST00000318315.4	37	c.72	CCDS34267.1	5	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508307	0.27036	.	.	ENSG00000178776	ENST00000318315;ENST00000515291	T;T	0.52754	0.65;0.65	4.06	-1.81	0.07882	.	0.000000	0.50627	D	0.000117	T	0.27765	0.0683	.	.	.	0.27485	N	0.952468	B	0.21225	0.053	B	0.20577	0.03	T	0.13737	-1.0498	9	0.87932	D	0	.	0.5193	0.00609	0.4425:0.1791:0.2052:0.1732	.	24	Q6UWT4	CE046_HUMAN	E	24	ENSP00000315370:D24E;ENSP00000425984:D24E	ENSP00000315370:D24E	D	-	3	2	C5orf46	147261528	0.996000	0.38824	0.940000	0.37924	0.290000	0.27261	0.205000	0.17356	-0.226000	0.09899	-1.311000	0.01308	GAC	C5orf46	-	NULL	ENSG00000178776		0.488	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf46	HGNC	protein_coding	OTTHUMT00000373314.1	-	0	47	0	G	NM_206966	Missense_Mutation	147281335	-1	tier1	-	no_errors	ENST00000318315	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.970	C	C	147281335	G	C	147281335	5	2	175	1	0	0	0	0	0	0	1	0	2312	1159	40	5	199	5	C5orf46	5	147281335	Splice_Site	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	82281183	147281335	33633925	33	43791											
DOCK2	1794	genome.wustl.edu	37	chr5	169412885	169412885	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctcattggaaagaacgtGtaccctggagactggatggc	11	8	13	9	1	1	2	1	0	0	2	1	6	1	4	2	4	2	1	2	4	3	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr5:169412885G>T	ENST00000256935.8	+	29	3032	c.2952G>T	c.(2950-2952)gtG>gtT	p.V984V	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.V476V|DOCK2_ENST00000540750.1_Silent_p.V45V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	984	Interaction with CRKL.				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)			GAAAGAACGTGTACCCTGGAG	0.478																																																	0													260	244	250					5																	169412885		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2952G>T	5.37:g.169412885G>T			Q2M3I0|Q96AK7	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.V984	ENST00000256935.8	37	c.2952	CCDS4371.1	5																																																																																			DOCK2	-	superfamily_ARM-type_fold	ENSG00000134516		0.478	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	44	0	G	NM_004946		169412885	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T	T	169412885	G	T	169412885	2	4	175	1	0	0	0	0	0	0	0	1	4701	1364	48	3		3	DOCK2	5	169412885	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	22131550	169412885	11502375	34	43792											
EEF1E1	9521	genome.wustl.edu	37	chr6	8080173	8080173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagacaacactagacaGatgttgcctgatgcctggat	13	9	11	8	0	0	5	0	2	0	3	0	7	0	6	2	1	3	1	2	1	3	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr6:8080173G>T	ENST00000379715.5	-	4	531	c.475C>A	c.(475-477)Ctg>Atg	p.L159M	EEF1E1-BLOC1S5_ENST00000397456.2_Intron|EEF1E1_ENST00000429723.2_Intron	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	159	GST C-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					ACACTAGACAGATGTTGCCTG	0.373																																																	0													142	120	128					6																	8080173		2203	4300	6503	SO:0001583	missense	0			AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.475C>A	6.37:g.8080173G>T	ENSP00000369038:p.Leu159Met		C9JLK5|Q5THS2	Missense_Mutation	SNP	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	p.L159M	ENST00000379715.5	37	c.475	CCDS4507.1	6	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871152	0.72065	.	.	ENSG00000124802	ENST00000379715	.	.	.	5.32	5.32	0.75619	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	M	0.88704	2.975	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.84899	0.0841	8	.	.	.	-6.4644	19.3933	0.94594	0.0:0.0:1.0:0.0	.	159	O43324	MCA3_HUMAN	M	159	.	.	L	-	1	2	EEF1E1	8025172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.140000	0.64807	2.648000	0.89879	0.650000	0.86243	CTG	EEF1E1	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000124802		0.373	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1E1	HGNC	protein_coding	OTTHUMT00000039799.2	-	0	67	0	G	NM_004280		8080173	-1	tier1	-	no_errors	ENST00000379715	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	8080173	G	T	8080173	3	4	175	1	0	0	0	0	1	0	0	0	4941	933	33	3	93	3	EEF1E1	6	8080173	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		8080173	163034894	35	43793											
C6orf105	84830	genome.wustl.edu	37	chr6	11768590	11768590	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacatcatccaggcaggtGaccccgtagaaaatggtctg	12	7	11	11	1	2	2	1	1	1	1	3	2	3	2	3	3	1	3	3	3	3	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr6:11768590G>T	ENST00000414691.3	-	2	590	c.180C>A	c.(178-180)gtC>gtA	p.V60V	ADTRP_ENST00000229583.5_Silent_p.V78V|ADTRP_ENST00000379413.2_Silent_p.V60V	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CCAGGCAGGTGACCCCGTAGA	0.418																																																	0													178	163	168					6																	11768590		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.180C>A	6.37:g.11768590G>T			B2R7T9|B4DV39|Q5THW1	Nonsense_Mutation	SNP	pfam_Far-17a_AIG1	p.S80*	ENST00000414691.3	37	c.239	CCDS4521.1	6																																																																																			ADTRP	-	NULL	ENSG00000111863		0.418	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADTRP	HGNC	protein_coding	OTTHUMT00000039864.3	-	0	69	0	G	NM_032744		11768590	-1	tier1	-	no_errors	ENST00000485323	ensembl	human	known	74_37	nonsense	30.61	68	30	SNP	0.996	T	T	11768590	G	T	11768590	2	4	175	1	0	0	0	0	0	0	0	1	2325	1277	45	3		3	C6orf105	6	11768590	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	3688417	11768590	159346477	36	43794											
RNF39	80352	genome.wustl.edu	37	chr6	30041253	30041253	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtctccatgtcttcctcatAtcctaggatgggcagaaaca	10	11	8	12	1	3	1	1	0	2	1	6	2	5	2	3	2	1	1	3	2	3	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr6:30041253A>G	ENST00000244360.6	-	2	667	c.570T>C	c.(568-570)gaT>gaC	p.D190D	RNF39_ENST00000376751.3_Silent_p.D190D	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	190						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										TCTTCCTCATATCCTAGGATG	0.522																																					NSCLC(8;188 360 1520 20207 31481)												0													227	185	199					6																	30041253		2203	4300	6503	SO:0001819	synonymous_variant	0			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.570T>C	6.37:g.30041253A>G			A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.D190	ENST00000244360.6	37	c.570	CCDS4673.1	6																																																																																			RNF39	-	NULL	ENSG00000204618		0.522	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF39	HGNC	protein_coding	OTTHUMT00000076625.3	-	0	86	0	A	NM_170769		30041253	-1	tier1	-	no_errors	ENST00000244360	ensembl	human	known	74_37	silent	26.73	74	27	SNP	0.507	G	G	30041253	A	G	30041253	2	3	175	1	0	0	0	0	0	0	0	1	13536	446	16	4		4	RNF39	6	30041253	Silent	SNP	A	TCGA-VR-AA7D-01A-11D-A403-09	18272663	30041253	141073814	37	43795											
AIM1	202	genome.wustl.edu	37	chr6	106960342	106960342	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gacgacgcggtgttcgacgaCgaggtggcgccaaacgcggc	8	4	17	12	9	0	0	0	0	0	0	1	5	0	0	1	4	1	1	1	4	1	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr6:106960342C>T	ENST00000369066.3	+	1	613	c.126C>T	c.(124-126)gaC>gaT	p.D42D		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0			M -> I (in OCA4). {ECO:0000269|PubMed:17768386}.		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)		TGTTCGACGACGAGGTGGCGC	0.706																																																	0													15	16	15					6																	106960342		2197	4286	6483	SO:0001819	synonymous_variant	0			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.126C>T	6.37:g.106960342C>T			Q6P2P0|Q9BTM3	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.D42	ENST00000369066.3	37	c.126	CCDS34506.1	6																																																																																			AIM1	-	NULL	ENSG00000112297		0.706	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1		0	55	0	C			106960342	1			no_errors	ENST00000369066	ensembl	human	known	74_37	silent	5.41	69	4	SNP	0.987	T	T	106960342	C	T	106960342	2	4	175	1	0	0	0	0	0	0	0	1	430	535	19	1		1	AIM1	6	106960342	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	76919089	106960342	64154725	38	43796											
NR2E1	7101	genome.wustl.edu	37	chr6	108497939	108497939	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctggctcagcccacgccCaaggtcagcggccttgctgg	6	6	13	16	2	2	0	2	0	0	0	2	0	2	0	4	4	4	2	4	4	1	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr6:108497939C>A	ENST00000368986.4	+	4	1200	c.492C>A	c.(490-492)ccC>ccA	p.P164P	NR2E1_ENST00000368983.3_Silent_p.P201P|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	164					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		AGCCCACGCCCAAGGTCAGCG	0.662																																																	0													5	7	7					6																	108497939		2123	4191	6314	SO:0001819	synonymous_variant	0			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.492C>A	6.37:g.108497939C>A			Q6ZMP8	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.P164	ENST00000368986.4	37	c.492	CCDS5063.1	6																																																																																			NR2E1	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000112333		0.662	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	HGNC	protein_coding	OTTHUMT00000041712.2	-	0	12	0	C			108497939	1	tier1	-	no_errors	ENST00000368986	ensembl	human	known	74_37	silent	25.00	18	6	SNP	1.000	A	A	108497939	C	A	108497939	2	1	175	1	0	0	0	0	0	0	0	1	10664	581	21	3		3	NR2E1	6	108497939	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	1537597	108497939	62617128	39	43797											
AIG1	51390	genome.wustl.edu	37	chr6	143457998	143457998	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggctgtcttttttggcatCtgtgtgctgactgatctttc	4	18	10	9	0	3	2	0	2	3	0	4	2	3	2	0	2	1	3	0	2	0	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr6:143457998C>G	ENST00000275235.4	+	2	193	c.168C>G	c.(166-168)atC>atG	p.I56M	AIG1_ENST00000367598.5_Missense_Mutation_p.I56M|AIG1_ENST00000344492.5_Intron|AIG1_ENST00000494282.2_Missense_Mutation_p.I56M|AIG1_ENST00000357847.4_Missense_Mutation_p.I56M			Q9NVV5	AIG1_HUMAN	androgen-induced 1	56						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TTTTTGGCATCTGTGTGCTGA	0.512																																																	0													199	193	195					6																	143457998		2203	4300	6503	SO:0001583	missense	0			AF153605	CCDS5198.1, CCDS69216.1	6q24.1	2008-02-05			ENSG00000146416	ENSG00000146416			21607	protein-coding gene	gene with protein product		608514				11266118	Standard	NM_001286587		Approved	dJ95L4.1, AIG-1, FLJ10485	uc003qjh.3	Q9NVV5	OTTHUMG00000015721	ENST00000275235.4:c.168C>G	6.37:g.143457998C>G	ENSP00000275235:p.Ile56Met		B4DPX2|C9J569|Q5T2H2|Q6N047|Q7Z378|Q8TB14|Q9Y3A9|Q9Y5B4	Missense_Mutation	SNP	pfam_Far-17a_AIG1	p.I56M	ENST00000275235.4	37	c.168		6	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529867	0.64860	.	.	ENSG00000146416	ENST00000367601;ENST00000419072;ENST00000367598;ENST00000357847;ENST00000275235	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.91	2.65	0.31530	.	0.116385	0.64402	D	0.000006	T	0.33206	0.0855	M	0.75615	2.305	0.44234	D	0.997075	P;P;P;P	0.50369	0.748;0.919;0.815;0.934	B;P;P;P	0.53593	0.276;0.61;0.499;0.73	T	0.21075	-1.0256	10	0.52906	T	0.07	-35.8427	12.0934	0.53739	0.0:0.7154:0.0:0.2846	.	56;56;56;52	B4DPX2;Q9NVV5-2;Q9NVV5-5;E7ENG8	.;.;.;.	M	52;52;56;56;56	ENSP00000356573:I52M;ENSP00000356570:I56M;ENSP00000350509:I56M;ENSP00000275235:I56M	ENSP00000275235:I56M	I	+	3	3	AIG1	143499691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.288000	0.33296	0.792000	0.33850	0.655000	0.94253	ATC	AIG1	-	pfam_Far-17a_AIG1	ENSG00000146416		0.512	AIG1-005	KNOWN	basic	protein_coding	AIG1	HGNC	protein_coding	OTTHUMT00000042510.1	-	0	42	0	C	NM_016108		143457998	1	tier1	-	no_errors	ENST00000275235	ensembl	human	known	74_37	missense	48.15	28	26	SNP	1.000	G	G	143457998	C	G	143457998	3	3	175	1	0	0	0	0	1	0	0	0	429	903	32	5	174	5	AIG1	6	143457998	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	34960059	143457998	27657069	40	43798											
TAGAP	117289	genome.wustl.edu	37	chr6	159457656	159457656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gggcgagctgtcagaggacgCgtccagcgagctgctggaga	8	5	18	10	4	1	2	1	0	0	2	2	6	2	3	1	3	4	3	1	3	0	0			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr6:159457656C>T	ENST00000367066.3	-	10	1730	c.1399G>A	c.(1399-1401)Gcg>Acg	p.A467T	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.A289T	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	467					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)		TCAGAGGACGCGTCCAGCGAG	0.567																																																	0													90	104	99					6																	159457656		2203	4300	6503	SO:0001583	missense	0			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.1399G>A	6.37:g.159457656C>T	ENSP00000356033:p.Ala467Thr		Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A467T	ENST00000367066.3	37	c.1399	CCDS5261.1	6	.	.	.	.	.	.	.	.	.	.	C	9.271	1.045566	0.19748	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.17691	2.26;2.51	6.05	1.85	0.25348	.	0.464779	0.21918	N	0.067206	T	0.05547	0.0146	L	0.57536	1.79	0.36967	D	0.893641	B	0.26602	0.154	B	0.11329	0.006	T	0.14924	-1.0455	10	0.27082	T	0.32	-6.2722	6.5681	0.22523	0.0:0.4156:0.0:0.5844	.	467	Q8N103	TAGAP_HUMAN	T	467;289;132	ENSP00000356033:A467T;ENSP00000322650:A289T	ENSP00000322650:A289T	A	-	1	0	TAGAP	159377644	0.028000	0.19301	0.000000	0.03702	0.002000	0.02628	1.438000	0.35002	0.465000	0.27167	-0.157000	0.13467	GCG	TAGAP	-	NULL	ENSG00000164691		0.567	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	-	0	37	0	C	NM_054114		159457656	-1	tier1	-	no_errors	ENST00000367066	ensembl	human	known	74_37	missense	30.51	41	18	SNP	0.000	T	T	159457656	C	T	159457656	3	4	175	1	0	0	0	0	1	0	0	0	15584	768	27	1	800	1	TAGAP	6	159457656	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	15999658	159457656	11657411	41	43799											
ASL	435	genome.wustl.edu	37	chr7	65546811	65546811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaagctttggggtggcCggtttgtgggtgcagtggac	4	11	21	5	1	0	0	0	0	0	0	0	2	0	2	1	7	2	3	1	7	1	2	rs564735357		TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr7:65546811C>T	ENST00000304874.9	+	3	136	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	ASL_ENST00000395332.3_Missense_Mutation_p.R12W|ASL_ENST00000395331.3_Missense_Mutation_p.R12W|ASL_ENST00000380839.4_Missense_Mutation_p.R12W	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	12					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TTGGGGTGGCCGGTTTGTGGG	0.542																																																	0													67	51	56					7																	65546811		2203	4300	6503	SO:0001583	missense	0				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.34C>T	7.37:g.65546811C>T	ENSP00000307188:p.Arg12Trp		E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase	p.R12W	ENST00000304874.9	37	c.34	CCDS5531.1	7	.	.	.	.	.	.	.	.	.	.	c	22.1	4.243621	0.79912	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.99413	-5.86;-5.86;-5.86;-5.86	4.9	4.9	0.64082	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.98407	4.225	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	0.97615	1.0132	10	0.87932	D	0	.	10.8417	0.46720	0.2939:0.7061:0.0:0.0	.	12;12;12;12	B4DU69;E9PE48;E7EMI0;P04424	.;.;.;ARLY_HUMAN	W	12	ENSP00000307188:R12W;ENSP00000370219:R12W;ENSP00000378741:R12W;ENSP00000378740:R12W	ENSP00000307188:R12W	R	+	1	2	ASL	65184246	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.011000	0.49567	2.551000	0.86045	0.561000	0.74099	CGG	ASL	-	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase	ENSG00000126522		0.542	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2	-	0	34	0	C	NM_000048		65546811	1	tier1	-	no_errors	ENST00000304874	ensembl	human	known	74_37	missense	42.62	35	26	SNP	1.000	T	T	65546811	C	T	65546811	3	4	175	1	0	0	0	0	1	0	0	0	1045	643	23	1	40	1	ASL	7	65546811	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09		65546811	93591852	42	43800											
ACHE	43	genome.wustl.edu	37	chr7	100490031	100490032	+	Frame_Shift_Ins	INS	-	-	G																															tctgccgtgtagtttcgagaINSggggtccagggggatcccaa																										TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr7:100490031_100490032insG	ENST00000412389.1	-	2	1631_1632	c.1476_1477insC	c.(1474-1479)ccctctfs	p.S493fs	ACHE_ENST00000419336.2_Frame_Shift_Ins_p.S405fs|ACHE_ENST00000302913.4_Frame_Shift_Ins_p.S493fs|ACHE_ENST00000428317.1_Frame_Shift_Ins_p.S493fs|ACHE_ENST00000241069.5_Frame_Shift_Ins_p.S493fs|ACHE_ENST00000411582.1_Frame_Shift_Ins_p.S493fs|UFSP1_ENST00000388761.2_5'Flank			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	493					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)	TAGTTTCGAGAGGGGTCCAGGG	0.594																																																	0																																										SO:0001589	frameshift_variant	0				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.1477dupC	7.37:g.100490035_100490035dupG	ENSP00000394976:p.Ser493fs		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Frame_Shift_Ins	INS	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.S492fs	ENST00000412389.1	37	c.1477_1476	CCDS5709.1	7																																																																																			ACHE	-	pfam_CarbesteraseB	ENSG00000087085		0.594	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1		0	70	0	0	NM_015831		100490032	-1			no_errors	ENST00000302913	ensembl	human	known	74_37	frame_shift_ins	9.68	168	18	INS	0.000:0.000	G	G	100490032	-	G	100490031	7	5	175	1	0	1	1	0	0	0	0	0	141	304	11	0	514	0	ACHE	7	100490031	Frame_Shift_Ins	INS	-	TCGA-VR-AA7D-01A-11D-A403-09	34943220	100490031	58648632	43	43801											
TAS2R39	259285	genome.wustl.edu	37	chr7	142880943	142880943	+	Frame_Shift_Del	DEL	C	C	-																															aagattgccaatttctcctaCccccttttcctcaaactgag																										TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr7:142880943delC	ENST00000446620.1	+	1	432	c.432delC	c.(430-432)tacfs	p.Y144fs		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	144					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)					ATTTCTCCTACCCCCTTTTCC	0.408																																																	0													92	85	87					7																	142880943		1883	4100	5983	SO:0001589	frameshift_variant	0			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.432delC	7.37:g.142880943delC	ENSP00000405095:p.Tyr144fs		A4FUI7|Q3ZCN6|Q645W4	Frame_Shift_Del	DEL	pfam_TAS2_rcpt	p.L146fs	ENST00000446620.1	37	c.432	CCDS47729.1	7																																																																																			TAS2R39	-	pfam_TAS2_rcpt	ENSG00000236398		0.408	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R39	HGNC	protein_coding	OTTHUMT00000327090.2		0	34	0	C	NM_176881		142880943	1	tier1		no_errors	ENST00000446620	ensembl	human	known	74_37	frame_shift_del	10.53	34	4	DEL	0.032	-	-	142880943	C	-	142880943	7	5	175	1	0	1	0	1	0	0	0	0	15623	518	18	0	434	0	TAS2R39	7	142880943	Frame_Shift_Del	DEL	C	TCGA-VR-AA7D-01A-11D-A403-09	42390912	142880943	16257720	44	43802											
OR2F2	135948	genome.wustl.edu	37	chr7	143632543	143632543	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcccttgtcgatgtctcctAtgccacaagcgtagtccccc	6	11	7	17	2	1	0	0	0	1	0	5	1	3	0	5	0	2	1	5	0	3	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr7:143632543A>T	ENST00000408955.2	+	1	285	c.218A>T	c.(217-219)tAt>tTt	p.Y73F		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, 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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GATGTCTCCTATGCCACAAGC	0.517																																																	0													235	229	231					7																	143632543		2203	4300	6503	SO:0001583	missense	0				CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.218A>T	7.37:g.143632543A>T	ENSP00000386222:p.Tyr73Phe		A4D2G0|Q6IFP8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y73F	ENST00000408955.2	37	c.218	CCDS43666.1	7	.	.	.	.	.	.	.	.	.	.	A	7.410	0.634600	0.14322	.	.	ENSG00000221910	ENST00000408955	T	0.00428	7.44	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000259	T	0.00496	0.0016	L	0.45744	1.44	0.20074	N	0.999934	D	0.65815	0.995	P	0.58721	0.844	T	0.54159	-0.8335	10	0.11485	T	0.65	-22.7025	6.9379	0.24476	0.7644:0.2356:0.0:0.0	.	73	O95006	OR2F2_HUMAN	F	73	ENSP00000386222:Y73F	ENSP00000386222:Y73F	Y	+	2	0	OR2F2	143263476	0.000000	0.05858	1.000000	0.80357	0.040000	0.13550	0.149000	0.16243	1.578000	0.49821	0.402000	0.26972	TAT	OR2F2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000221910		0.517	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F2	HGNC	protein_coding	OTTHUMT00000349570.1	-	0	53	0	A			143632543	1	tier1	-	no_errors	ENST00000408955	ensembl	human	known	74_37	missense	59.46	15	22	SNP	0.710	T	T	143632543	A	T	143632543	3	4	175	1	0	0	0	0	1	0	0	0	11036	449	16	5	220	5	OR2F2	7	143632543	Missense_Mutation	SNP	A	TCGA-VR-AA7D-01A-11D-A403-09	751600	143632543	15506120	45	43803											
MLL3	58508	genome.wustl.edu	37	chr7	151878602	151878602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttccaggctgggaaaaagCccttgaaggatgggcaaaag	13	6	15	7	0	0	1	0	1	0	0	1	3	1	3	2	5	1	3	2	5	5	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr7:151878602C>A	ENST00000262189.6	-	36	6561	c.6343G>T	c.(6343-6345)Gct>Tct	p.A2115S	KMT2C_ENST00000355193.2_Missense_Mutation_p.A2115S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2115	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)										TGGGAAAAAGCCCTTGAAGGA	0.453																																																	0													101	104	103					7																	151878602		2203	4300	6503	SO:0001583	missense	0			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.6343G>T	7.37:g.151878602C>A	ENSP00000262189:p.Ala2115Ser		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A2115S	ENST00000262189.6	37	c.6343	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	9.575	1.121958	0.20877	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.81579	-1.51;-1.5	5.38	2.48	0.30137	.	0.161338	0.28365	N	0.015617	T	0.54647	0.1871	N	0.11560	0.145	0.80722	D	1	B;B	0.20052	0.038;0.041	B;B	0.17433	0.018;0.016	T	0.50303	-0.8844	10	0.02654	T	1	.	6.5015	0.22172	0.138:0.6504:0.0:0.2115	.	2115;1176	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	2115	ENSP00000262189:A2115S;ENSP00000347325:A2115S	ENSP00000262189:A2115S	A	-	1	0	MLL3	151509535	0.133000	0.22466	0.999000	0.59377	0.925000	0.55904	0.040000	0.13905	1.285000	0.44548	-0.244000	0.11960	GCT	KMT2C	-	NULL	ENSG00000055609		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	44	0	C			151878602	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	45.95	20	17	SNP	1.000	A	A	151878602	C	A	151878602	3	1	175	1	0	0	0	0	1	0	0	0	9660	739	26	3	8488	3	MLL3	7	151878602	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	8246059	151878602	7260061	46	43804											
RP1L1	94137	genome.wustl.edu	37	chr8	10468842	10468842	+	Silent	SNP	C	C	A	0	0	0	1	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	ctcaaggtcttctcctcggaCagcccccgagaccccgcacc	7	6	8	20	3	3	1	1	0	2	1	5	3	3	2	6	2	1	1	6	2	1	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr8:10468842C>A	ENST00000382483.3	-	4	2989	c.2766G>T	c.(2764-2766)ctG>ctT	p.L922L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	922					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)		TCTCCTCGGACAGCCCCCGAG	0.697																																																	0													20	26	24					8																	10468842		1962	4133	6095	SO:0001819	synonymous_variant	0			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.2766G>T	8.37:g.10468842C>A			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L922	ENST00000382483.3	37	c.2766	CCDS43708.1	8																																																																																			RP1L1	-	NULL	ENSG00000183638		0.697	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	57	0	C			10468842	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	silent	60.00	28	42	SNP	0.000	A	A	10468842	C	A	10468842	2	1	175	1	0	0	0	0	0	0	0	1	13578	465	17	3		3	RP1L1	8	10468842	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09		10468842	135895180	47	43805											
NSMAF	8439	genome.wustl.edu	37	chr8	59506838	59506838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattgcgagagaccgtgattCcagtaactgctctgctcaaa	11	10	9	11	2	2	2	1	1	1	1	3	4	3	2	2	0	4	3	2	0	2	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr8:59506838C>A	ENST00000038176.3	-	23	2116	c.1904G>T	c.(1903-1905)gGa>gTa	p.G635V	NSMAF_ENST00000427130.2_Missense_Mutation_p.G666V	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	635					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)				GACCGTGATTCCAGTAACTGC	0.403																																																	0													122	117	118					8																	59506838		2203	4300	6503	SO:0001583	missense	0			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.1904G>T	8.37:g.59506838C>A	ENSP00000038176:p.Gly635Val		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G666V	ENST00000038176.3	37	c.1997	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398905	0.62177	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.30182	1.54;1.54	6.03	6.03	0.97812	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	0.56659	0.2000	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.953	T	0.48854	-0.8998	9	.	.	.	.	19.5478	0.95307	0.0:1.0:0.0:0.0	.	666;635	Q92636-2;Q92636	.;FAN_HUMAN	V	635;666	ENSP00000038176:G635V;ENSP00000411012:G666V	.	G	-	2	0	NSMAF	59669392	1.000000	0.71417	0.610000	0.28997	0.153000	0.21895	6.663000	0.74431	2.868000	0.98415	0.555000	0.69702	GGA	NSMAF	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000035681		0.403	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	-	0	78	0	C	NM_003580		59506838	-1	tier1	-	no_errors	ENST00000427130	ensembl	human	known	74_37	missense	17.97	105	23	SNP	1.000	A	A	59506838	C	A	59506838	3	1	175	1	0	0	0	0	1	0	0	0	10713	855	30	3	885	3	NSMAF	8	59506838	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	49037996	59506838	86857184	48	43806											
C9orf79	286234	genome.wustl.edu	37	chr9	90503589	90503589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcaaaaacaggggcatcaGagacagagacagcagttggg	15	5	14	7	0	2	2	2	0	0	2	2	4	2	2	0	3	2	3	0	3	2	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr9:90503589G>C	ENST00000325643.5	+	4	4253	c.4187G>C	c.(4186-4188)aGa>aCa	p.R1396T		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1396					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGGGGCATCAGAGACAGAGAC	0.632																																																	0													47	46	47					9																	90503589		2203	4300	6503	SO:0001583	missense	0			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.4187G>C	9.37:g.90503589G>C	ENSP00000322640:p.Arg1396Thr		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.R1396T	ENST00000325643.5	37	c.4187	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	g	6.699	0.497691	0.12762	.	.	ENSG00000177992	ENST00000325643	T	0.07216	3.21	1.5	-3.01	0.05463	.	1.694850	0.03882	N	0.277281	T	0.10165	0.0249	L	0.34521	1.04	0.09310	N	1	P	0.50528	0.936	P	0.48425	0.577	T	0.25433	-1.0132	10	0.54805	T	0.06	.	6.9779	0.24686	0.3379:0.0:0.6621:0.0	.	1396	Q6ZUB1	CI079_HUMAN	T	1396	ENSP00000322640:R1396T	ENSP00000322640:R1396T	R	+	2	0	C9orf79	89693409	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.240000	0.02914	-1.183000	0.02723	-0.492000	0.04666	AGA	SPATA31E1	-	NULL	ENSG00000177992		0.632	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2		0	49	0	G	NM_178828		90503589	1			no_errors	ENST00000325643	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.000	C	C	90503589	G	C	90503589	3	2	175	1	0	0	0	0	1	0	0	0	2504	942	33	5	4201	5	C9orf79	9	90503589	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		90503589	50709842	49	43807											
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123165255	123165255	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtggtggccagtgacCaggcgggacacacacggagt	10	4	16	11	2	0	1	0	1	0	0	0	3	0	3	2	6	0	0	2	6	0	0			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr9:123165255C>G	ENST00000349780.4	-	34	5315	c.5136G>C	c.(5134-5136)ctG>ctC	p.L1712L	CDK5RAP2_ENST00000360822.3_Silent_p.L1680L|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Silent_p.L1633L|CDK5RAP2_ENST00000359309.3_Silent_p.L1671L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1712					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						GGCCAGTGACCAGGCGGGACA	0.587																																																	0													73	74	74					9																	123165255		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5136G>C	9.37:g.123165255C>G			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	pfam_Spindle_assoc	p.L1712	ENST00000349780.4	37	c.5136	CCDS6823.1	9																																																																																			CDK5RAP2	-	NULL	ENSG00000136861		0.587	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	-	0	36	0	C	NM_018249		123165255	-1	tier1	-	no_errors	ENST00000349780	ensembl	human	known	74_37	silent	37.84	46	28	SNP	0.697	G	G	123165255	C	G	123165255	2	3	175	1	0	0	0	0	0	0	0	1	3153	581	21	5		5	CDK5RAP2	9	123165255	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	32661666	123165255	18048176	50	43808											
TRAF1	7185	genome.wustl.edu	37	chr9	123688278	123688278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctcctttgggtcctggcagaCggtgggagggcacccaaagg	7	7	16	11	1	0	1	0	0	0	1	2	2	2	2	3	6	0	2	3	6	1	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr9:123688278C>T	ENST00000373887.3	-	2	2521	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	TRAF1_ENST00000540010.1_Missense_Mutation_p.V26I	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	26					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TCCTGGCAGACGGTGGGAGGG	0.637																																																	0													46	45	45					9																	123688278		2203	4300	6503	SO:0001583	missense	0			AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.76G>A	9.37:g.123688278C>T	ENSP00000362994:p.Val26Ile		B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	p.V26I	ENST00000373887.3	37	c.76	CCDS6825.1	9	.	.	.	.	.	.	.	.	.	.	C	6.736	0.504549	0.12822	.	.	ENSG00000056558	ENST00000373887;ENST00000540010	T;T	0.22743	1.94;1.94	5.63	-1.74	0.08056	.	2.721080	0.00995	N	0.003589	T	0.08403	0.0209	N	0.11427	0.14	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.15122	-1.0448	10	0.05721	T	0.95	-1.8187	0.9901	0.01454	0.1612:0.2639:0.1584:0.4165	.	26	Q13077	TRAF1_HUMAN	I	26	ENSP00000362994:V26I;ENSP00000443183:V26I	ENSP00000362994:V26I	V	-	1	0	TRAF1	122728099	0.002000	0.14202	0.000000	0.03702	0.424000	0.31475	-0.150000	0.10189	-0.172000	0.10779	-0.309000	0.09137	GTC	TRAF1	-	pirsf_TNF_rcpt--assoc_TRAF	ENSG00000056558		0.637	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF1	HGNC	protein_coding	OTTHUMT00000053843.1	-	0	46	0	C	NM_005658		123688278	-1	tier1	-	no_errors	ENST00000373887	ensembl	human	known	74_37	missense	35.48	60	33	SNP	0.000	T	T	123688278	C	T	123688278	3	4	175	1	0	0	0	0	1	0	0	0	16485	536	19	1	1202	1	TRAF1	9	123688278	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	523023	123688278	17525153	51	43809											
C9orf142	286257	genome.wustl.edu	37	chr9	139888246	139888246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctggtggcgtggacttcGatgagacctgaaggtgcagc	8	8	16	9	2	0	2	0	2	0	1	1	5	0	3	1	4	3	2	1	4	1	1	rs370085766		TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr9:139888246G>A	ENST00000371620.3	+	7	630	c.604G>A	c.(604-606)Gat>Aat	p.D202N	C9orf142_ENST00000493968.1_3'UTR|CLIC3_ENST00000480181.1_5'Flank	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142	202						extracellular vesicular exosome (GO:0070062)						all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGTGGACTTCGATGAGACCTG	0.622																																																	0								G	ASN/ASP	0,4404		0,0,2202	106	84	91		604	3.9	0.1	9		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf142	NM_183241.1	23	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	202/205	139888246	1,13003	2202	4300	6502	SO:0001583	missense	0			BC002613	CCDS7020.1	9q34.3	2008-02-05			ENSG00000148362	ENSG00000148362			27849	protein-coding gene	gene with protein product							Standard	NM_183241		Approved		uc004cki.3	Q9BUH6	OTTHUMG00000020971	ENST00000371620.3:c.604G>A	9.37:g.139888246G>A	ENSP00000360682:p.Asp202Asn		Q8IY19	Missense_Mutation	SNP	NULL	p.D202N	ENST00000371620.3	37	c.604	CCDS7020.1	9	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672122	0.47781	0.0	1.16E-4	ENSG00000148362	ENST00000371620	.	.	.	3.88	3.88	0.44766	.	0.402704	0.20765	N	0.086094	T	0.60508	0.2274	L	0.48642	1.525	0.39414	D	0.966791	D	0.67145	0.996	P	0.51101	0.659	T	0.68469	-0.5400	9	0.72032	D	0.01	-1.6526	14.9934	0.71412	0.0:0.0:1.0:0.0	.	202	Q9BUH6	CI142_HUMAN	N	202	.	ENSP00000360682:D202N	D	+	1	0	C9orf142	139008067	0.998000	0.40836	0.109000	0.21407	0.060000	0.15804	5.096000	0.64535	1.997000	0.58415	0.491000	0.48974	GAT	C9orf142	-	NULL	ENSG00000148362		0.622	C9orf142-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf142	HGNC	protein_coding	OTTHUMT00000055255.1	-	0	60	0	G	NM_183241		139888246	1	tier1	-	no_errors	ENST00000371620	ensembl	human	known	74_37	missense	32.47	104	50	SNP	0.819	A	A	139888246	G	A	139888246	3	1	175	1	0	0	0	0	1	0	0	0	2468	1058	37	1	630	1	C9orf142	9	139888246	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	16199968	139888246	1325185	52	43810											
SFMBT2	57713	genome.wustl.edu	37	chr10	7214488	7214488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcggtgaagtccacggcaGaagacctccgtttcttctgc	7	9	11	14	4	2	3	0	1	2	2	4	3	4	3	4	2	1	2	4	2	2	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr10:7214488G>A	ENST00000361972.4	-	18	2210	c.2120C>T	c.(2119-2121)tCt>tTt	p.S707F	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S707F	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	707					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						GTCCACGGCAGAAGACCTCCG	0.647																																																	0													47	46	46					10																	7214488		2203	4300	6503	SO:0001583	missense	0			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.2120C>T	10.37:g.7214488G>A	ENSP00000355109:p.Ser707Phe		A7MD09|Q9HCF5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.S707F	ENST00000361972.4	37	c.2120	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739900	0.69304	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.16597	2.33;2.33	5.28	5.28	0.74379	.	0.249644	0.43416	D	0.000571	T	0.37210	0.0995	M	0.65498	2.005	0.80722	D	1	D	0.67145	0.996	P	0.59171	0.853	T	0.03840	-1.0999	10	0.37606	T	0.19	.	18.5052	0.90894	0.0:0.0:1.0:0.0	.	707	Q5VUG0	SMBT2_HUMAN	F	707	ENSP00000355109:S707F;ENSP00000380353:S707F	ENSP00000355109:S707F	S	-	2	0	SFMBT2	7254494	1.000000	0.71417	0.228000	0.23943	0.143000	0.21401	8.856000	0.92245	2.458000	0.83093	0.484000	0.47621	TCT	SFMBT2	-	superfamily_ARM-type_fold	ENSG00000198879		0.647	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1		0	54	0	G	NM_001029880		7214488	-1			no_errors	ENST00000361972	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.925	A	A	7214488	G	A	7214488	3	1	175	1	0	0	0	0	1	0	0	0	14203	942	33	3	580	3	SFMBT2	10	7214488	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		7214488	128320259	53	43811											
ATP5C1	509	genome.wustl.edu	37	chr10	7844263	7844263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatctatgacgatattgatgCtgacgtgctgcaaaattacc	12	13	8	8	2	1	3	0	3	1	0	1	4	1	3	1	0	4	3	1	0	6	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr10:7844263C>T	ENST00000356708.7	+	7	747	c.668C>T	c.(667-669)gCt>gTt	p.A223V	ATP5C1_ENST00000541227.1_Missense_Mutation_p.A176V|ATP5C1_ENST00000335698.4_Missense_Mutation_p.A223V|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	223					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						GATATTGATGCTGACGTGCTG	0.398																																					Melanoma(143;1012 1820 16249 30920 33158)												0													109	91	97					10																	7844263		2203	4300	6503	SO:0001583	missense	0			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	ENST00000356708.7:c.668C>T	10.37:g.7844263C>T	ENSP00000349142:p.Ala223Val		A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu	p.A223V	ENST00000356708.7	37	c.668	CCDS31142.1	10	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443244	0.83993	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.5	5.5	0.81552	ATPase, F1 complex, gamma subunit domain (1);	0.048785	0.85682	D	0.000000	T	0.54447	0.1859	L	0.35341	1.055	0.80722	D	1	P	0.44627	0.839	B	0.43783	0.431	T	0.57306	-0.7834	9	0.54805	T	0.06	-7.9113	19.3767	0.94512	0.0:1.0:0.0:0.0	.	223	P36542	ATPG_HUMAN	V	223;223;176	.	ENSP00000338568:A223V	A	+	2	0	ATP5C1	7884269	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	7.729000	0.84864	2.735000	0.93741	0.655000	0.94253	GCT	ATP5C1	-	pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,tigrfam_ATPase_F1-cplx_gsu	ENSG00000165629		0.398	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP5C1	HGNC	protein_coding	OTTHUMT00000046708.1	-	0	41	0	C	NM_005174		7844263	1	tier1	-	no_errors	ENST00000356708	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	7844263	C	T	7844263	3	4	175	1	0	0	0	0	1	0	0	0	1150	797	28	3	694	3	ATP5C1	10	7844263	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	629775	7844263	127690484	54	43812											
AGAP4	119016	genome.wustl.edu	37	chr10	46321476	46321476	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	gtgggcatctcgggccatgaCgtccaccccgtaccagatca	8	7	11	15	3	2	2	1	1	1	1	4	2	3	2	5	2	1	2	5	2	1	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr10:46321476C>A	ENST00000448048.2	-	7	2004	c.1879G>T	c.(1879-1881)Gtc>Ttc	p.V627F	AGAP4_ENST00000430779.2_5'Flank	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	627					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.V627I(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						CGGGCCATGACGTCCACCCCG	0.672																																																	1	Substitution - Missense(1)	ovary(1)											1	1	1					10																	46321476		214	382	596	SO:0001583	missense	0			AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23459	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 1", "ArfGAP with GTPase domain, ankyrin repeat and PH domain 8", "centaurin, gamma-like family, member 5"	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.1879G>T	10.37:g.46321476C>A	ENSP00000392513:p.Val627Phe			Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.V627F	ENST00000448048.2	37	c.1879	CCDS7215.1	10	.	.	.	.	.	.	.	.	.	.	c	6.989	0.552493	0.13374	.	.	ENSG00000188234	ENST00000448048;ENST00000342551	T	0.68903	-0.36	.	.	.	Ankyrin repeat-containing domain (4);	0.223555	0.38436	N	0.001698	T	0.65312	0.2679	L	0.54323	1.7	0.30332	N	0.786604	P;P	0.45986	0.87;0.785	P;P	0.51701	0.677;0.578	T	0.64002	-0.6509	9	0.72032	D	0.01	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	650;627	C9JRW4;Q96P64	.;AGAP4_HUMAN	F	627;403	ENSP00000392513:V627F	ENSP00000343438:V403F	V	-	1	0	AGAP4	45641482	0.956000	0.32656	0.271000	0.24616	0.274000	0.26718	0.179000	0.16840	0.107000	0.17824	0.109000	0.15622	GTC	AGAP4	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000188234		0.672	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP4	HGNC	protein_coding	OTTHUMT00000047799.1	-	0	47	0	C	NM_133446		46321476	-1	tier1	-	no_errors	ENST00000448048	ensembl	human	known	74_37	missense	32.79	41	20	SNP	1.000	A	A	46321476	C	A	46321476	3	1	175	1	0	0	0	0	1	0	0	0	370	536	19	2	116	2	AGAP4	10	46321476	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	38477213	46321476	89213271	55	43813											
ANK3	288	genome.wustl.edu	37	chr10	61830487	61830487	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactggtcgttgttcccattCtgggcaatttcattctgagg	6	15	11	9	1	3	1	1	1	2	0	5	2	4	1	1	3	0	3	1	3	1	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr10:61830487C>T	ENST00000280772.2	-	37	10343	c.10152G>A	c.(10150-10152)caG>caA	p.Q3384Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3384					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)	p.Q3384H(1)		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						TGTTCCCATTCTGGGCAATTT	0.463																																																	1	Substitution - Missense(1)	urinary_tract(1)											152	143	146					10																	61830487		2203	4300	6503	SO:0001819	synonymous_variant	0			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.10152G>A	10.37:g.61830487C>T			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.Q3384	ENST00000280772.2	37	c.10152	CCDS7258.1	10																																																																																			ANK3	-	NULL	ENSG00000151150		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0	37	0	C	NM_020987		61830487	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T	T	61830487	C	T	61830487	2	4	175	1	0	0	0	0	0	0	0	1	622	912	32	3		3	ANK3	10	61830487	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	15509011	61830487	73704260	56	43814											
COL13A1	1305	genome.wustl.edu	37	chr10	71678829	71678829	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccacacagggtgagccaggGatcccaggaaccaaggtact	12	5	12	12	0	0	1	0	1	0	0	2	3	2	3	4	4	3	1	4	4	3	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr10:71678829G>A	ENST00000398978.3	+	20	1533	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	COL13A1_ENST00000520133.1_Silent_p.G296G|COL13A1_ENST00000398969.3_Silent_p.G290G|COL13A1_ENST00000354547.3_Silent_p.G325G|COL13A1_ENST00000398964.3_Silent_p.G318G|COL13A1_ENST00000398972.3_Silent_p.G347G|COL13A1_ENST00000520267.1_Silent_p.G290G|COL13A1_ENST00000398966.3_Silent_p.G325G|COL13A1_ENST00000517713.1_Silent_p.G325G|COL13A1_ENST00000398971.3_Silent_p.G347G|COL13A1_ENST00000522165.1_Silent_p.G328G|COL13A1_ENST00000398973.3_Silent_p.G347G|COL13A1_ENST00000398968.3_Silent_p.G328G|COL13A1_ENST00000398974.3_Silent_p.G335G|COL13A1_ENST00000356340.3_Silent_p.G347G|COL13A1_ENST00000357811.3_Silent_p.G325G	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						GTGAGCCAGGGATCCCAGGAA	0.542																																																	0													202	204	204					10																	71678829		1967	4155	6122	SO:0001819	synonymous_variant	0			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.1041G>A	10.37:g.71678829G>A				Silent	SNP	pfam_Collagen	p.G347	ENST00000398978.3	37	c.1041	CCDS44419.1	10																																																																																			COL13A1	-	pfam_Collagen	ENSG00000197467		0.542	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	-	0	29	0	G	NM_005203		71678829	1	tier1	-	no_errors	ENST00000356340	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.997	A	A	71678829	G	A	71678829	2	1	175	1	0	0	0	0	0	0	0	1	3677	1161	41	3		3	COL13A1	10	71678829	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	9848342	71678829	63855918	57	43815											
ZCCHC24	219654	genome.wustl.edu	37	chr10	81192403	81192403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgctgggcttgcgagcctCggaggtgagggtcaggtctg	4	10	18	9	2	2	1	1	1	1	0	3	3	2	2	1	5	3	2	1	5	0	2	rs141500674		TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr10:81192403C>T	ENST00000372336.3	-	2	544	c.358G>A	c.(358-360)Gag>Aag	p.E120K	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.R60Q	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	120							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TTGCGAGCCTCGGAGGTGAGG	0.612																																																	0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	84	73	77		358	5.8	1	10	dbSNP_134	77	0,8600		0,0,4300	no	missense	ZCCHC24	NM_153367.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	120/242	81192403	1,13005	2203	4300	6503	SO:0001583	missense	0			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.358G>A	10.37:g.81192403C>T	ENSP00000361411:p.Glu120Lys		Q5U5T9|Q8TAG0	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.E120K	ENST00000372336.3	37	c.358	CCDS7359.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.433298|4.433298	0.83776|0.83776	2.27E-4|2.27E-4	0.0|0.0	ENSG00000165424|ENSG00000165424	ENST00000372336|ENST00000372333	T|.	0.46063|.	0.88|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62245|0.62245	0.2412|0.2412	L|L	0.27053|0.27053	0.805|0.805	0.38463|0.38463	D|D	0.947255|0.947255	D|D	0.76494|0.69078	0.999|0.997	D|P	0.71184|0.55785	0.972|0.784	T|T	0.67189|0.67189	-0.5733|-0.5733	10|8	0.26408|0.87932	T|D	0.33|0	-11.7214|-11.7214	20.1438|20.1438	0.98071|0.98071	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	120|60	Q8N2G6|Q5W133	ZCH24_HUMAN|.	K|Q	120|60	ENSP00000361411:E120K|.	ENSP00000361411:E120K|ENSP00000361408:R60Q	E|R	-|-	1|2	0|0	ZCCHC24|ZCCHC24	80862409|80862409	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.969000|0.969000	0.65631|0.65631	7.487000|7.487000	0.81328|0.81328	2.768000|2.768000	0.95171|0.95171	0.650000|0.650000	0.86243|0.86243	GAG|CGA	ZCCHC24	-	superfamily_Znf_CCHC	ENSG00000165424		0.612	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC24	HGNC	protein_coding	OTTHUMT00000048947.1	-	0	28	0	C	NM_153367		81192403	-1	tier1	rs141500674	no_errors	ENST00000372336	ensembl	human	known	74_37	missense	36.00	32	18	SNP	1.000	T	T	81192403	C	T	81192403	3	4	175	1	0	0	0	0	1	0	0	0	17636	893	31	1	379	1	ZCCHC24	10	81192403	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	9513574	81192403	54342344	58	43816											
ALDH18A1	5832	genome.wustl.edu	37	chr10	97366618	97366618	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtggtccttccctcgcagCagccacttagtagtaagcag	9	9	10	13	2	0	0	0	0	0	0	3	0	2	0	3	1	3	5	3	1	3	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr10:97366618C>T	ENST00000371224.2	-	18	2426	c.2289G>A	c.(2287-2289)ctG>ctA	p.L763L	ALDH18A1_ENST00000371221.3_Silent_p.L761L	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	763	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TCCCTCGCAGCAGCCACTTAG	0.478																																																	0													162	163	163					10																	97366618		2203	4300	6503	SO:0001819	synonymous_variant	0			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.2289G>A	10.37:g.97366618C>T			B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.L763	ENST00000371224.2	37	c.2289	CCDS7443.1	10																																																																																			ALDH18A1	-	superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn	ENSG00000059573		0.478	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	-	0	65	0	C	NM_002860		97366618	-1	tier1	-	no_errors	ENST00000371224	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.989	T	T	97366618	C	T	97366618	2	4	175	1	0	0	0	0	0	0	0	1	489	697	25	3		3	ALDH18A1	10	97366618	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	16174215	97366618	38168129	59	43817											
SLC17A6	57084	genome.wustl.edu	37	chr11	22360130	22360130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggaaaagaggggctaaaGaattttgctggaaaatcact	16	8	11	6	0	1	2	1	0	0	2	1	4	1	4	1	4	1	2	1	4	7	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr11:22360130G>C	ENST00000263160.3	+	1	488	c.51G>C	c.(49-51)aaG>aaC	p.K17N	CTD-2140G10.2_ENST00000530569.1_RNA|CTD-2140G10.2_ENST00000528009.1_RNA|CTD-2140G10.2_ENST00000531304.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	17					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AGGGGCTAAAGAATTTTGCTG	0.443																																																	0													65	70	68					11																	22360130		2203	4300	6503	SO:0001583	missense	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.51G>C	11.37:g.22360130G>C	ENSP00000263160:p.Lys17Asn		A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K17N	ENST00000263160.3	37	c.51	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522485	0.64747	.	.	ENSG00000091664	ENST00000263160	T	0.65732	-0.17	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	M	0.68593	2.085	0.80722	D	1	B	0.18310	0.027	B	0.22601	0.04	T	0.64145	-0.6476	10	0.62326	D	0.03	.	18.9139	0.92496	0.0:0.0:1.0:0.0	.	17	Q9P2U8	VGLU2_HUMAN	N	17	ENSP00000263160:K17N	ENSP00000263160:K17N	K	+	3	2	SLC17A6	22316706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.845000	0.55880	2.465000	0.83290	0.655000	0.94253	AAG	SLC17A6	-	NULL	ENSG00000091664		0.443	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0	87	0	G	NM_020346		22360130	1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	28.00	54	21	SNP	1.000	C	C	22360130	G	C	22360130	3	2	175	1	0	0	0	0	1	0	0	0	14466	933	33	5	53	5	SLC17A6	11	22360130	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		22360130	112646386	60	43818											
RAPSN	5913	genome.wustl.edu	37	chr11	47460440	47460440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcagccctttgctgcGgtaaatgctctcgctcagac	6	10	10	15	3	2	1	1	0	1	1	3	1	2	1	2	1	5	6	2	1	2	2	rs549232026		TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr11:47460440G>T	ENST00000298854.2	-	7	1222	c.1009C>A	c.(1009-1011)Cgc>Agc	p.R337S	RAPSN_ENST00000529341.1_Missense_Mutation_p.R278S|RAPSN_ENST00000528356.1_Intron|RAPSN_ENST00000352508.3_Missense_Mutation_p.R278S|RNU6-1302P_ENST00000516518.1_RNA|RAPSN_ENST00000524487.1_Missense_Mutation_p.P286Q	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	337					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						CCTTTGCTGCGGTAAATGCTC	0.632													G|||	1	0.000199681	0	0	5008	,	,		16324	0		0	False		,,,				2504	0.001																0													26	23	24					11																	47460440		2189	4280	6469	SO:0001583	missense	0				CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"RING-type (C3HC4) zinc fingers"	9863	protein-coding gene	gene with protein product	"rapsyn"	601592	"receptor-associated protein of the synapse, 43kD"			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.1009C>A	11.37:g.47460440G>T	ENSP00000298854:p.Arg337Ser		Q8TDF3|Q9BTD9	Missense_Mutation	SNP	pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING,prints_Postsynaptic	p.R337S	ENST00000298854.2	37	c.1009	CCDS7936.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.312401|4.312401	0.81358|0.81358	.|.	.|.	ENSG00000165917|ENSG00000165917	ENST00000524487|ENST00000298854;ENST00000352508;ENST00000529341	D|D;D;D	0.92911|0.94000	-3.13|-3.29;-3.24;-3.33	5.88|5.88	5.88|5.88	0.94601|0.94601	.|Tetratricopeptide-like helical (1);	.|0.214240	.|0.50627	.|D	.|0.000102	D|D	0.95500|0.95500	0.8538|0.8538	M|M	0.72118|0.72118	2.19|2.19	0.45747|0.45747	D|D	0.99864|0.99864	.|D;P;B	.|0.71674	.|0.998;0.759;0.015	.|D;B;B	.|0.65573	.|0.936;0.271;0.01	D|D	0.91715|0.91715	0.5384|0.5384	7|10	0.27785|0.05351	T|T	0.31|0.99	-35.4887|-35.4887	20.2884|20.2884	0.98536|0.98536	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|278;278;337	.|E9PK11;Q13702-2;Q13702	.|.;.;RAPSN_HUMAN	Q|S	286|337;278;278	ENSP00000435551:P286Q|ENSP00000298854:R337S;ENSP00000298853:R278S;ENSP00000431732:R278S	ENSP00000435551:P286Q|ENSP00000298854:R337S	P|R	-|-	2|1	0|0	RAPSN|RAPSN	47417016|47417016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.400000|9.400000	0.97290|0.97290	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	CCG|CGC	RAPSN	-	NULL	ENSG00000165917		0.632	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPSN	HGNC	protein_coding	OTTHUMT00000391726.1	-	0	43	0	G			47460440	-1	tier1	-	no_errors	ENST00000298854	ensembl	human	known	74_37	missense	47.17	28	25	SNP	1.000	T	T	47460440	G	T	47460440	3	4	175	1	0	0	0	0	1	0	0	0	13096	1116	39	2	237	2	RAPSN	11	47460440	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	25100310	47460440	87546076	61	43819											
OR4S2	219431	genome.wustl.edu	37	chr11	55418727	55418727	+	Frame_Shift_Del	DEL	G	G	-																															atcttcatccttactgtaatGgcctatgatcgttatgtggc																										TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr11:55418727delG	ENST00000312422.2	+	1	348	c.348delG	c.(346-348)atgfs	p.M116fs		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTACTGTAATGGCCTATGATC	0.423																																																	0													208	175	186					11																	55418727		2180	4036	6216	SO:0001589	frameshift_variant	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.348delG	11.37:g.55418727delG	ENSP00000310337:p.Met116fs		Q6IF72	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A117fs	ENST00000312422.2	37	c.348	CCDS31505.1	11																																																																																			OR4S2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000174982		0.423	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1		0	33	0	G	NM_001004059		55418727	1	tier1		no_errors	ENST00000312422	ensembl	human	known	74_37	frame_shift_del	70.97	9	22	DEL	1.000	-	-	55418727	G	-	55418727	7	5	175	1	0	1	0	1	0	0	0	0	11122	1348	47	0	350	0	OR4S2	11	55418727	Frame_Shift_Del	DEL	G	TCGA-VR-AA7D-01A-11D-A403-09	7958287	55418727	79587789	62	43820											
OR5T1	390155	genome.wustl.edu	37	chr11	56043399	56043399	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactccaaaaatgttggtCaatttcctggcaaaaaataa	16	11	6	8	0	2	0	2	0	0	0	4	0	4	0	2	2	0	2	2	2	7	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr11:56043399C>A	ENST00000313033.2	+	1	371	c.285C>A	c.(283-285)gtC>gtA	p.V95V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V95V(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AAATGTTGGTCAATTTCCTGG	0.378																																																	1	Substitution - coding silent(1)	lung(1)											111	108	109					11																	56043399		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.285C>A	11.37:g.56043399C>A			B2RNM9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V95	ENST00000313033.2	37	c.285	CCDS31525.1	11																																																																																			OR5T1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181698		0.378	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1	-	0	61	0	C	NM_001004745		56043399	1	tier1	-	no_errors	ENST00000313033	ensembl	human	known	74_37	silent	34.67	49	26	SNP	0.021	A	A	56043399	C	A	56043399	2	1	175	1	0	0	0	0	0	0	0	1	11220	813	29	3		3	OR5T1	11	56043399	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	624672	56043399	78963117	63	43821											
POLA2	23649	genome.wustl.edu	37	chr11	65063037	65063037	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cggaacttcagacagattcaGccgaatactcaagcacatct	14	8	7	12	2	4	2	3	0	1	2	4	4	4	3	1	1	4	1	1	1	4	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr11:65063037G>T	ENST00000265465.3	+	16	2018	c.1487G>T	c.(1486-1488)aGc>aTc	p.S496I	POLA2_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Missense_Mutation_p.S288I	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	496					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)	GACAGATTCAGCCGAATACTC	0.498																																																	0													86	82	83					11																	65063037		2201	4297	6498	SO:0001583	missense	0			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.1487G>T	11.37:g.65063037G>T	ENSP00000265465:p.Ser496Ile		B4DNB4|Q9BPV3	Missense_Mutation	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.S496I	ENST00000265465.3	37	c.1487	CCDS8098.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.296205|4.296205	0.81025|0.81025	.|.	.|.	ENSG00000014138|ENSG00000014138	ENST00000525924|ENST00000265465;ENST00000541089	.|T;T	.|0.32023	.|1.47;1.47	5.06|5.06	5.06|5.06	0.68205|0.68205	.|DNA polymerase alpha/epsilon, subunit B (1);	.|0.141122	.|0.64402	.|D	.|0.000005	T|T	0.58221|0.58221	0.2107|0.2107	M|M	0.85777|0.85777	2.775|2.775	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D	.|0.67145	.|0.991;0.996	.|P;D	.|0.67382	.|0.859;0.951	T|T	0.61936|0.61936	-0.6960|-0.6960	5|10	.|0.41790	.|T	.|0.15	-25.2523|-25.2523	15.9246|15.9246	0.79606|0.79606	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|288;496	.|B4DNB4;Q14181	.|.;DPOA2_HUMAN	S|I	166|496;288	.|ENSP00000265465:S496I;ENSP00000443222:S288I	.|ENSP00000265465:S496I	A|S	+|+	1|2	0|0	POLA2|POLA2	64819613|64819613	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.178000|4.178000	0.58284|0.58284	2.359000|2.359000	0.80004|0.80004	0.462000|0.462000	0.41574|0.41574	GCC|AGC	POLA2	-	pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	ENSG00000014138		0.498	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	-	0	27	0	G	NM_002689		65063037	1	tier1	-	no_errors	ENST00000265465	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	65063037	G	T	65063037	3	4	175	1	0	0	0	0	1	0	0	0	12227	971	34	3	1549	3	POLA2	11	65063037	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	9019638	65063037	69943479	64	43822											
MRGPRF	116535	genome.wustl.edu	37	chr11	68773294	68773294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccacagcagggcgcacaccaCggccgacaggcgcttgggcc	8	2	14	17	4	0	0	0	0	0	0	0	1	0	0	4	4	1	3	4	4	0	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr11:68773294C>T	ENST00000309099.6	-	3	866	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	MRGPRF_ENST00000441623.1_Missense_Mutation_p.V162M|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	162						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCGCACACCACGGCCGACAGG	0.736																																																	0													7	11	10					11																	68773294		2109	4108	6217	SO:0001583	missense	0			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.484G>A	11.37:g.68773294C>T	ENSP00000309782:p.Val162Met		B3KV43|Q8NBK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V162M	ENST00000309099.6	37	c.484	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017702	0.54576	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.74209	-0.82;-0.82	4.86	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.392353	0.18802	N	0.130777	T	0.71451	0.3341	M	0.62209	1.925	0.09310	N	0.999992	P	0.52316	0.952	P	0.49047	0.599	T	0.61564	-0.7037	10	0.34782	T	0.22	-20.4438	5.4234	0.16413	0.0:0.6607:0.2257:0.1136	.	162	Q96AM1	MRGRF_HUMAN	M	162;162;134	ENSP00000403660:V162M;ENSP00000309782:V162M	ENSP00000309782:V162M	V	-	1	0	MRGPRF	68529870	0.000000	0.05858	0.812000	0.32479	0.893000	0.52053	-0.415000	0.07106	2.248000	0.74166	0.561000	0.74099	GTG	MRGPRF	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172935		0.736	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	-	0	44	0	C	NM_145015		68773294	-1	tier1	-	no_errors	ENST00000309099	ensembl	human	known	74_37	missense	7.84	188	16	SNP	0.509	T	T	68773294	C	T	68773294	3	4	175	1	0	0	0	0	1	0	0	0	9803	536	19	1	551	1	MRGPRF	11	68773294	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	3710257	68773294	66233222	65	43823											
FAT3	120114	genome.wustl.edu	37	chr11	92533683	92533683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttttcacaaagcacatacGtagctgaggtgagagagaac	14	8	10	9	1	1	3	1	2	0	2	1	5	1	3	1	1	4	3	1	1	4	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr11:92533683G>T	ENST00000298047.6	+	9	7521	c.7504G>T	c.(7504-7506)Gta>Tta	p.V2502L	FAT3_ENST00000525166.1_Missense_Mutation_p.V2352L|FAT3_ENST00000409404.2_Missense_Mutation_p.V2502L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2502	Cadherin 23. {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)	p.V2502I(2)		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)				AAGCACATACGTAGCTGAGGT	0.498										TCGA Ovarian(4;0.039)																																							2	Substitution - Missense(2)	large_intestine(2)											84	81	82					11																	92533683		2056	4199	6255	SO:0001583	missense	0			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.7504G>T	11.37:g.92533683G>T	ENSP00000298047:p.Val2502Leu		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V2502L	ENST00000298047.6	37	c.7504		11	.	.	.	.	.	.	.	.	.	.	G	8.932	0.963699	0.18583	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52526	0.66;0.66;0.66	5.95	5.95	0.96441	.	.	.	.	.	T	0.37128	0.0992	N	0.16656	0.425	0.80722	D	1	B	0.15473	0.013	B	0.15484	0.013	T	0.07731	-1.0757	9	0.32370	T	0.25	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	2502	Q8TDW7-3	.	L	2502;2502;2352	ENSP00000298047:V2502L;ENSP00000387040:V2502L;ENSP00000432586:V2352L	ENSP00000298047:V2502L	V	+	1	0	FAT3	92173331	1.000000	0.71417	0.948000	0.38648	0.891000	0.51852	6.668000	0.74457	2.824000	0.97209	0.655000	0.94253	GTA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.498	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding			0	19	0	G	NM_001008781		92533683	1			no_errors	ENST00000298047	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	92533683	G	T	92533683	3	4	175	1	0	0	0	0	1	0	0	0	5713	1145	40	2	7538	2	FAT3	11	92533683	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	23760389	92533683	42472833	66	43824											
FAM55B	120406	genome.wustl.edu	37	chr11	114577254	114577254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattattctcagtgaaagatGaaaactatatcccacgggaa	17	10	7	7	1	1	3	1	2	1	1	3	4	2	4	1	1	1	0	1	1	8	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr11:114577254G>A	ENST00000389586.4	+	6	1472	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	NXPE2_ENST00000375475.5_Intron	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	428						integral component of membrane (GO:0016021)											AGTGAAAGATGAAAACTATAT	0.383																																																	0													77	66	69					11																	114577254		692	1591	2283	SO:0001583	missense	0			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.1282G>A	11.37:g.114577254G>A	ENSP00000374237:p.Glu428Lys		Q2NKI8	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.E428K	ENST00000389586.4	37	c.1282	CCDS44738.1	11	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065003	0.36470	.	.	ENSG00000204361	ENST00000389586	T	0.18338	2.22	5.13	4.21	0.49690	.	0.461211	0.19408	N	0.115013	T	0.13586	0.0329	L	0.29908	0.895	0.80722	D	1	B	0.29378	0.243	B	0.28465	0.09	T	0.07328	-1.0778	10	0.28530	T	0.3	.	13.4832	0.61348	0.0:0.1581:0.8418:0.0	.	428	Q96DL1	FA55B_HUMAN	K	428	ENSP00000374237:E428K	ENSP00000374237:E428K	E	+	1	0	FAM55B	114082464	0.296000	0.24398	1.000000	0.80357	0.954000	0.61252	0.654000	0.24918	1.157000	0.42530	-0.314000	0.08810	GAA	NXPE2	-	NULL	ENSG00000204361		0.383	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NXPE2	HGNC	protein_coding	OTTHUMT00000399181.1	-	0	88	0	G	NM_182495		114577254	1	tier1	-	no_errors	ENST00000389586	ensembl	human	known	74_37	missense	45.00	33	27	SNP	1.000	A	A	114577254	G	A	114577254	3	1	175	1	0	0	0	0	1	0	0	0	5607	1291	45	3	1304	3	FAM55B	11	114577254	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	22043571	114577254	20429262	67	43825											
MLL	4297	genome.wustl.edu	37	chr11	118392772	118392772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgtcatctttgccatgcGtaagatctaccgaggagagg	10	11	11	9	2	3	2	1	0	2	2	3	4	3	2	2	2	3	1	2	2	2	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr11:118392772G>A	ENST00000389506.5	+	36	11795	c.11795G>A	c.(11794-11796)cGt>cAt	p.R3932H	KMT2A_ENST00000534358.1_Missense_Mutation_p.R3935H|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.R3894H|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3932	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)										TTTGCCATGCGTAAGATCTAC	0.498																																																	0													201	159	173					11																	118392772		2200	4295	6495	SO:0001583	missense	0			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.11795G>A	11.37:g.118392772G>A	ENSP00000374157:p.Arg3932His		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.R3932H	ENST00000389506.5	37	c.11795	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224662	0.79576	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.86497	-2.13;-2.13;-2.13	5.5	5.5	0.81552	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.95847	0.8648	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96498	0.9369	10	0.87932	D	0	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	3935;3932	E9PQG7;Q03164	.;MLL1_HUMAN	H	3935;3932;3894;2842	ENSP00000436786:R3935H;ENSP00000374157:R3932H;ENSP00000346516:R3894H	ENSP00000346516:R3894H	R	+	2	0	MLL	117897982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.860000	0.86993	2.861000	0.98227	0.655000	0.94253	CGT	KMT2A	-	pfam_SET_dom,smart_SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom	ENSG00000118058		0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	51	0	G	NM_005933		118392772	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	50.00	19	19	SNP	1.000	A	A	118392772	G	A	118392772	3	1	175	1	0	0	0	0	1	0	0	0	9658	1145	40	1	11937	1	MLL	11	118392772	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	3815518	118392772	16613744	68	43826											
TEAD4	7004	genome.wustl.edu	37	chr12	3147205	3147205	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagccagtatgagagcccCgagaacatgatcatcacctg	12	7	9	13	1	2	3	2	2	0	2	3	5	3	3	5	0	3	1	5	0	2	1	rs376977078		TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr12:3147205C>A	ENST00000397122.2	+	9	867	c.582C>A	c.(580-582)ccC>ccA	p.P194P	TEAD4_ENST00000358409.2_Silent_p.P280P|TEAD4_ENST00000359864.2_Silent_p.P323P	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	323					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P323P(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			ATGAGAGCCCCGAGAACATGA	0.597																																																	1	Substitution - coding silent(1)	endometrium(1)											89	74	79					12																	3147205		2203	4300	6503	SO:0001819	synonymous_variant	0			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.582C>A	12.37:g.3147205C>A			H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Silent	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.P323	ENST00000397122.2	37	c.969	CCDS41737.1	12																																																																																			TEAD4	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000197905		0.597	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398477.1		0	30	0	C	NM_003213		3147205	1			no_errors	ENST00000359864	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.016	A	A	3147205	C	A	3147205	2	1	175	1	0	0	0	0	0	0	0	1	15788	639	23	2		2	TEAD4	12	3147205	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09		3147205	130704690	69	43827											
PLEKHG6	55200	genome.wustl.edu	37	chr12	6436429	6436429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaactgtaggactcctgaGttctcgaccattatccccca	10	12	6	13	1	1	1	0	1	1	0	4	3	3	2	4	1	1	2	4	1	3	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr12:6436429G>T	ENST00000396988.3	+	15	1910	c.1680G>T	c.(1678-1680)gaG>gaT	p.E560D	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.E528D|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.E560D|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.E90D	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	560						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						GGACTCCTGAGTTCTCGACCA	0.512											OREG0021622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													108	103	105					12																	6436429		2203	4300	6503	SO:0001583	missense	0			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.1680G>T	12.37:g.6436429G>T	ENSP00000380185:p.Glu560Asp	634	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E560D	ENST00000396988.3	37	c.1680	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472140	0.26423	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.65364	-0.04;-0.04;-0.15	5.45	3.63	0.41609	.	0.345323	0.24915	N	0.034586	T	0.46405	0.1391	L	0.34521	1.04	0.09310	N	1	P;P	0.37330	0.59;0.455	B;B	0.40285	0.325;0.113	T	0.36962	-0.9726	10	0.06236	T	0.91	-8.0454	8.4185	0.32685	0.1805:0.0:0.8195:0.0	.	528;560	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	D	560;560;528;90	ENSP00000011684:E560D;ENSP00000380185:E560D;ENSP00000393194:E528D	ENSP00000011684:E560D	E	+	3	2	PLEKHG6	6306690	0.352000	0.24895	0.009000	0.14445	0.001000	0.01503	1.494000	0.35616	0.670000	0.31165	-0.137000	0.14449	GAG	PLEKHG6	-	NULL	ENSG00000008323		0.512	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1	-	0	46	0	G	NM_018173		6436429	1	tier1	-	no_errors	ENST00000011684	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.120	T	T	6436429	G	T	6436429	3	4	175	1	0	0	0	0	1	0	0	0	12113	1020	36	3	1780	3	PLEKHG6	12	6436429	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	3289224	6436429	127415466	70	43828											
KIAA1467	57613	genome.wustl.edu	37	chr12	13211414	13211414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctccattggaattggctGatgtgaatggagatggcctg	8	13	14	6	0	1	3	0	2	1	1	2	5	1	4	2	4	0	1	2	4	2	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr12:13211414G>A	ENST00000197268.8	+	3	583	c.463G>A	c.(463-465)Gat>Aat	p.D155N		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	155						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GGAATTGGCTGATGTGAATGG	0.468																																																	0													434	403	414					12																	13211414		2203	4300	6503	SO:0001583	missense	0			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.463G>A	12.37:g.13211414G>A	ENSP00000197268:p.Asp155Asn		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.D155N	ENST00000197268.8	37	c.463	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449633	0.84101	.	.	ENSG00000084444	ENST00000197268	.	.	.	4.91	4.91	0.64330	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	M	0.78456	2.415	0.51767	D	0.999933	D	0.89917	1.0	D	0.97110	1.0	T	0.82466	-0.0443	9	0.72032	D	0.01	-14.1529	17.2748	0.87112	0.0:0.0:1.0:0.0	.	155	A2RU67	K1467_HUMAN	N	155	.	ENSP00000197268:D155N	D	+	1	0	KIAA1467	13102681	1.000000	0.71417	0.995000	0.50966	0.685000	0.39939	6.731000	0.74785	2.540000	0.85666	0.650000	0.86243	GAT	KIAA1467	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000084444		0.468	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	-	0	99	0	G	NM_020853		13211414	1	tier1	-	no_errors	ENST00000197268	ensembl	human	known	74_37	missense	27.08	70	26	SNP	1.000	A	A	13211414	G	A	13211414	3	1	175	1	0	0	0	0	1	0	0	0	8262	1290	45	3	473	3	KIAA1467	12	13211414	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	6774985	13211414	120640481	71	43829											
OVCH1	341350	genome.wustl.edu	37	chr12	29626014	29626014	+	Silent	SNP	T	T	C	0	1	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	ttgttttggggaggtaacttTggttcaaatttgtttaaaga	10	18	11	2	0	1	1	1	0	0	1	1	2	1	2	0	4	1	4	0	4	4	9			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr12:29626014T>C	ENST00000318184.5	-	15	1622	c.1623A>G	c.(1621-1623)ccA>ccG	p.P541P	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	541						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)					GAGGTAACTTTGGTTCAAATT	0.338																																																	0													105	98	100					12																	29626014		1828	4081	5909	SO:0001819	synonymous_variant	0			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.1623A>G	12.37:g.29626014T>C				Silent	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P541	ENST00000318184.5	37	c.1623		12																																																																																			OVCH1	-	NULL	ENSG00000187950		0.338	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	-	0	43	0	T	NM_183378		29626014	-1	tier1	-	no_errors	ENST00000318184	ensembl	human	known	74_37	silent	32.00	34	16	SNP	0.000	C	C	29626014	T	C	29626014	2	2	175	1	0	0	0	0	0	0	0	1	11362	1799	63	4		4	OVCH1	12	29626014	Silent	SNP	T	TCGA-VR-AA7D-01A-11D-A403-09	16414600	29626014	104225881	72	43830											
PKP2	5318	genome.wustl.edu	37	chr12	32977060	32977060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtccgtcacatcttctcatCgcttttctcccatcagcgcc	6	13	5	17	3	5	0	3	0	3	0	9	0	6	0	3	0	1	1	3	0	0	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr12:32977060C>T	ENST00000070846.6	-	8	1749	c.1725G>A	c.(1723-1725)gcG>gcA	p.A575A	PKP2_ENST00000340811.4_Silent_p.A531A	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	575					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATCTTCTCATCGCTTTTCTCC	0.398																																																	0													152	128	136					12																	32977060		2203	4300	6503	SO:0001819	synonymous_variant	0			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1725G>A	12.37:g.32977060C>T			A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A575	ENST00000070846.6	37	c.1725	CCDS8731.1	12																																																																																			PKP2	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000057294		0.398	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	HGNC	protein_coding	OTTHUMT00000404449.1	-	0	54	0	C	NM_004572		32977060	-1	tier1	-	no_errors	ENST00000070846	ensembl	human	known	74_37	silent	13.70	63	10	SNP	0.980	T	T	32977060	C	T	32977060	2	4	175	1	0	0	0	0	0	0	0	1	12024	871	31	1		1	PKP2	12	32977060	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	3351046	32977060	100874835	73	43831											
PPHLN1	51535	genome.wustl.edu	37	chr12	42778782	42778782	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctacaaacggcagaatgaAggaaatcctgaaagaggtga	17	6	11	7	1	0	5	0	3	0	2	2	6	2	6	2	3	2	1	2	3	6	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr12:42778782A>G	ENST00000395568.2	+	6	636	c.552A>G	c.(550-552)gaA>gaG	p.E184E	PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000395580.3_Silent_p.E191E|PPHLN1_ENST00000432191.2_Silent_p.E129E|PPHLN1_ENST00000358314.7_Silent_p.E184E|PPHLN1_ENST00000549190.1_Silent_p.E202E|PPHLN1_ENST00000552761.1_Silent_p.E136E|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000337898.6_Silent_p.E129E	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	184	Ser-rich.				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)		GGCAGAATGAAGGAAATCCTG	0.502																																																	0													125	110	115					12																	42778782		2203	4300	6503	SO:0001819	synonymous_variant	0			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.552A>G	12.37:g.42778782A>G			E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	NULL	p.E184	ENST00000395568.2	37	c.552	CCDS31777.1	12																																																																																			PPHLN1	-	NULL	ENSG00000134283		0.502	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	PPHLN1	HGNC	protein_coding	OTTHUMT00000404047.1	-	0	83	0	A	NM_201515		42778782	1	tier1	-	no_errors	ENST00000395568	ensembl	human	known	74_37	silent	24.00	76	24	SNP	1.000	G	G	42778782	A	G	42778782	2	3	175	1	0	0	0	0	0	0	0	1	12354	69	3	4		4	PPHLN1	12	42778782	Silent	SNP	A	TCGA-VR-AA7D-01A-11D-A403-09	9801722	42778782	91073113	74	43832											
KRT6A	3853	genome.wustl.edu	37	chr12	52881551	52881551	+	Missense_Mutation	SNP	T	T	G	0	1	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	ggaggaggtggtggtgtactTgatggtggaactgccgcctc	6	10	18	7	1	0	1	0	1	0	0	1	4	0	4	2	7	3	1	2	7	2	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr12:52881551T>G	ENST00000330722.6	-	9	1716	c.1648A>C	c.(1648-1650)Aag>Cag	p.K550Q		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	550	Tail.				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)		GTGGTGTACTTGATGGTGGAA	0.592																																																	0													86	93	90					12																	52881551		2203	4300	6503	SO:0001583	missense	0			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.1648A>C	12.37:g.52881551T>G	ENSP00000369317:p.Lys550Gln		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.K550Q	ENST00000330722.6	37	c.1648	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	t	13.32	2.203009	0.38905	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.82167	-1.58	4.75	3.5	0.40072	.	0.000000	0.47852	D	0.000208	T	0.72471	0.3464	L	0.41824	1.3	0.24849	N	0.992415	P	0.44877	0.845	B	0.39379	0.298	T	0.67864	-0.5560	10	0.56958	D	0.05	.	6.406	0.21664	0.0:0.0847:0.1579:0.7574	.	550	P02538	K2C6A_HUMAN	Q	550;506	ENSP00000369317:K550Q	ENSP00000369317:K550Q	K	-	1	0	KRT6A	51167818	0.019000	0.18553	1.000000	0.80357	0.958000	0.62258	0.316000	0.19469	1.901000	0.55032	0.529000	0.55759	AAG	KRT6A	-	NULL	ENSG00000205420		0.592	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2		0	48	0	T	NM_005554		52881551	-1			no_errors	ENST00000330722	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.810	G	G	52881551	T	G	52881551	3	3	175	1	0	0	0	0	1	0	0	0	8507	1821	63	4	50	4	KRT6A	12	52881551	Missense_Mutation	SNP	T	TCGA-VR-AA7D-01A-11D-A403-09	10102769	52881551	80970344	75	43833											
SOAT2	8435	genome.wustl.edu	37	chr12	53497990	53497990	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatggacccgacacatggaGgtgagggatgtcagaggtca	12	6	15	8	1	2	2	2	1	0	1	2	6	2	5	1	5	0	0	1	5	1	0			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr12:53497990G>A	ENST00000301466.3	+	2	198	c.138G>A	c.(136-138)gaG>gaA	p.E46E		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	46					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)	GACACATGGAGGTGAGGGATG	0.493																																																	0													93	85	88					12																	53497990		2203	4300	6503	SO:0001630	splice_region_variant	0			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.138+1G>A	12.37:g.53497990G>A			F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	pfam_MBOAT_fam	p.E46	ENST00000301466.3	37	c.138	CCDS8847.1	12																																																																																			SOAT2	-	NULL	ENSG00000167780		0.493	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	HGNC	protein_coding	OTTHUMT00000405817.1	-	0	26	0	G		Silent	53497990	1	tier1	-	no_errors	ENST00000301466	ensembl	human	known	74_37	silent	38.10	26	16	SNP	1.000	A	A	53497990	G	A	53497990	5	1	175	1	0	0	0	0	0	0	1	0	14956	1014	35	3	144	3	SOAT2	12	53497990	Splice_Site	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	616439	53497990	80353905	76	43834											
AVIL	10677	genome.wustl.edu	37	chr12	58204330	58204330	+	Frame_Shift_Del	DEL	A	A	-																															gaatatcctttgccagaagcAtagcctgtcaaagaagccca																										TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr12:58204330delA	ENST00000257861.3	-	6	993	c.563delT	c.(562-564)atgfs	p.M188fs	AVIL_ENST00000537081.1_Frame_Shift_Del_p.M181fs	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	188	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGCCAGAAGCATAGCCTGTCA	0.557																																																	0													64	59	61					12																	58204330		2203	4300	6503	SO:0001589	frameshift_variant	0			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.563delT	12.37:g.58204330delA	ENSP00000257861:p.Met188fs		B2RAU7|Q2NKM9	Frame_Shift_Del	DEL	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.M188fs	ENST00000257861.3	37	c.563	CCDS8959.1	12																																																																																			AVIL	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin	ENSG00000135407		0.557	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	HGNC	protein_coding	OTTHUMT00000409276.1		0	14	0	A	NM_006576		58204330	-1	tier1		no_errors	ENST00000257861	ensembl	human	known	74_37	frame_shift_del	37.50	15	9	DEL	1.000	-	-	58204330	A	-	58204330	7	5	175	1	0	1	0	1	0	0	0	0	1228	217	8	0	1952	0	AVIL	12	58204330	Frame_Shift_Del	DEL	A	TCGA-VR-AA7D-01A-11D-A403-09	4706340	58204330	75647565	77	43835											
UTP20	27340	genome.wustl.edu	37	chr12	101728221	101728221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcagcaggcttggatctGagagtcaatattctcctact	11	12	9	9	0	4	2	2	1	2	2	5	4	4	3	1	2	2	2	1	2	3	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr12:101728221G>C	ENST00000261637.4	+	29	3754	c.3580G>C	c.(3580-3582)Gag>Cag	p.E1194Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1194					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)	p.E1194Q(1)		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						GCTTGGATCTGAGAGTCAATA	0.358																																																	1	Substitution - Missense(1)	lung(1)											88	78	81					12																	101728221		2203	4300	6503	SO:0001583	missense	0			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.3580G>C	12.37:g.101728221G>C	ENSP00000261637:p.Glu1194Gln		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.E1194Q	ENST00000261637.4	37	c.3580	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410592	0.83340	.	.	ENSG00000120800	ENST00000261637	T	0.44482	0.92	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61491	-0.7052	10	0.54805	T	0.06	-22.4177	19.69	0.95996	0.0:0.0:1.0:0.0	.	1194	O75691	UTP20_HUMAN	Q	1194	ENSP00000261637:E1194Q	ENSP00000261637:E1194Q	E	+	1	0	UTP20	100252352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.743000	0.91592	2.648000	0.89879	0.650000	0.86243	GAG	UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.358	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	-	0	29	0	G	NM_014503		101728221	1	tier1	-	no_errors	ENST00000261637	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	C	C	101728221	G	C	101728221	3	2	175	1	0	0	0	0	1	0	0	0	17148	1291	45	5	3694	5	UTP20	12	101728221	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	43523891	101728221	32123674	78	43836											
MRP63	78988	genome.wustl.edu	37	chr13	21751269	21751269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcgcaggagggaggccttcGaggccataaaggcggccgcc	8	4	17	12	4	0	0	0	0	0	0	1	3	0	2	4	6	1	1	4	6	2	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr13:21751269G>C	ENST00000309594.4	+	2	292	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	SKA3_ENST00000314759.5_5'Flank|SKA3_ENST00000400018.3_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		72					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.E72Q(1)		kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		GGAGGCCTTCGAGGCCATAAA	0.612																																																	1	Substitution - Missense(1)	urinary_tract(1)											33	31	32					13																	21751269		2203	4300	6503	SO:0001583	missense	0																														ENST00000309594.4:c.214G>C	13.37:g.21751269G>C	ENSP00000310726:p.Glu72Gln		A2A332	Missense_Mutation	SNP	pirsf_Ribosomal_MRP63_mit	p.E72Q	ENST00000309594.4	37	c.214	CCDS9296.1	13	.	.	.	.	.	.	.	.	.	.	G	8.604	0.887625	0.17540	.	.	ENSG00000173141	ENST00000309594	.	.	.	5.86	-0.0991	0.13625	.	0.464050	0.21046	N	0.081096	T	0.28928	0.0718	L	0.43701	1.375	0.09310	N	0.999993	B	0.21452	0.056	B	0.15484	0.013	T	0.13656	-1.0501	9	0.34782	T	0.22	4.7145	7.0638	0.25141	0.2461:0.3335:0.4203:0.0	.	72	Q9BQC6	RT63_HUMAN	Q	72	.	ENSP00000310726:E72Q	E	+	1	0	MRP63	20649269	0.949000	0.32298	0.002000	0.10522	0.001000	0.01503	1.075000	0.30716	-0.389000	0.07786	-0.136000	0.14681	GAG	MRP63	-	pirsf_Ribosomal_MRP63_mit	ENSG00000173141		0.612	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRP63	HGNC	protein_coding	OTTHUMT00000044105.2	-	0	43	0	G			21751269	1	tier1	-	no_errors	ENST00000309594	ensembl	human	known	74_37	missense	31.48	37	17	SNP	0.339	C	C	21751269	G	C	21751269	3	2	175	1	0	0	0	0	1	0	0	0	9811	1059	37	5	216	5	MRP63	13	21751269	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		21751269	93418609	79	43837											
PDS5B	23047	genome.wustl.edu	37	chr13	33309450	33309450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctactttcattgtgaaagatCttctcatgaatgatcgggta	11	15	8	7	1	3	4	2	3	2	1	5	4	3	4	0	1	1	1	0	1	4	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr13:33309450C>T	ENST00000315596.10	+	21	2575	c.2389C>T	c.(2389-2391)Ctt>Ttt	p.L797F		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	797					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)		TGTGAAAGATCTTCTCATGAA	0.323																																																	0													124	112	116					13																	33309450		1868	4110	5978	SO:0001583	missense	0			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.2389C>T	13.37:g.33309450C>T	ENSP00000313851:p.Leu797Phe		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L797F	ENST00000315596.10	37	c.2389	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707676	0.48412	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.72118	2.19	0.58432	D	0.999996	B	0.19706	0.038	B	0.29598	0.104	T	0.60321	-0.7286	9	0.42905	T	0.14	-2.9362	5.6586	0.17656	0.0:0.6641:0.1755:0.1604	.	797	Q9NTI5	PDS5B_HUMAN	F	797	.	ENSP00000313851:L797F	L	+	1	0	PDS5B	32207450	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.911000	0.48774	2.534000	0.85438	0.650000	0.86243	CTT	PDS5B	-	superfamily_ARM-type_fold	ENSG00000083642		0.323	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	-	0	63	0	C	NM_015032		33309450	1	tier1	-	no_errors	ENST00000315596	ensembl	human	known	74_37	missense	41.18	30	21	SNP	1.000	T	T	33309450	C	T	33309450	3	4	175	1	0	0	0	0	1	0	0	0	11731	913	32	3	2467	3	PDS5B	13	33309450	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	11558181	33309450	81860428	80	43838			1	48		2	2	17	N	G_C	7.545739e-05
PDS5B	23047	genome.wustl.edu	37	chr13	33309466	33309466	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcttctcatgaatgatcGggtaatttatattttttaga	12	18	7	4	1	2	4	1	2	2	2	4	4	2	4	0	1	0	1	0	1	5	8			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr13:33309466G>T	ENST00000315596.10	+	21	2591	c.2405G>T	c.(2404-2406)cGg>cTg	p.R802L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	802					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)		ATGAATGATCGGGTAATTTAT	0.313																																																	0													88	78	81					13																	33309466		1831	4094	5925	SO:0001630	splice_region_variant	0			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.2406+1G>T	13.37:g.33309466G>T			Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R802L	ENST00000315596.10	37	c.2405	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919572	0.92249	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	L	0.54323	1.7	0.80722	D	1	P	0.47253	0.892	P	0.47376	0.545	T	0.61623	-0.7025	9	0.38643	T	0.18	-1.8654	19.1293	0.93399	0.0:0.0:1.0:0.0	.	802	Q9NTI5	PDS5B_HUMAN	L	802	.	ENSP00000313851:R802L	R	+	2	0	PDS5B	32207466	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.694000	0.98686	2.534000	0.85438	0.650000	0.86243	CGG	PDS5B	-	superfamily_ARM-type_fold	ENSG00000083642		0.313	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3		0	51	0	G	NM_015032	Missense_Mutation	33309466	1			no_errors	ENST00000315596	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	33309466	G	T	33309466	5	4	175	1	0	0	0	0	0	0	1	0	11731	1130	39	2	2483	2	PDS5B	13	33309466	Splice_Site	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	16	33309466	81860412	81	43839			1	48		2	2	17	N	G_C	7.545739e-05
FREM2	341640	genome.wustl.edu	37	chr13	39263873	39263873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagaactgggcgtggctactCgagtggcccagttccagttc	8	9	13	11	2	0	1	0	0	0	1	3	2	1	1	2	3	2	3	2	3	3	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr13:39263873C>G	ENST00000280481.7	+	1	2608	c.2392C>G	c.(2392-2394)Cga>Gga	p.R798G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	798					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)		CGTGGCTACTCGAGTGGCCCA	0.547																																																	0													62	65	64					13																	39263873		2203	4300	6503	SO:0001583	missense	0			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.2392C>G	13.37:g.39263873C>G	ENSP00000280481:p.Arg798Gly		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.R798G	ENST00000280481.7	37	c.2392	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609570	0.46527	.	.	ENSG00000150893	ENST00000280481	T	0.36699	1.24	5.8	4.95	0.65309	.	0.139416	0.47455	D	0.000228	T	0.50939	0.1645	M	0.72353	2.195	0.35019	D	0.757605	D	0.58620	0.983	P	0.53760	0.734	T	0.66436	-0.5924	10	0.49607	T	0.09	.	14.528	0.67902	0.2665:0.7335:0.0:0.0	.	798	Q5SZK8	FREM2_HUMAN	G	798	ENSP00000280481:R798G	ENSP00000280481:R798G	R	+	1	2	FREM2	38161873	0.331000	0.24713	0.997000	0.53966	0.923000	0.55619	0.973000	0.29422	1.423000	0.47198	0.655000	0.94253	CGA	FREM2	-	NULL	ENSG00000150893		0.547	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	55	0	C	NM_207361		39263873	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	30.91	38	17	SNP	0.945	G	G	39263873	C	G	39263873	3	3	175	1	0	0	0	0	1	0	0	0	6069	876	31	5	2394	5	FREM2	13	39263873	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	5954407	39263873	75906005	82	43840											
HS6ST3	266722	genome.wustl.edu	37	chr13	97485218	97485218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagatcaacgagggtgcccgCcaacgcattgaggatctaaa	13	6	12	10	3	2	2	1	1	1	1	2	5	2	3	2	2	3	1	2	2	4	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr13:97485218C>T	ENST00000376705.2	+	2	1206	c.1182C>T	c.(1180-1182)cgC>cgT	p.R394R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	394					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)					AGGGTGCCCGCCAACGCATTG	0.502																																																	0													94	87	89					13																	97485218		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1182C>T	13.37:g.97485218C>T			Q5W0L0|Q68CW6	Silent	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.R394	ENST00000376705.2	37	c.1182	CCDS9481.1	13																																																																																			HS6ST3	-	pfam_Sulfotransferase	ENSG00000185352		0.502	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST3	HGNC	protein_coding	OTTHUMT00000045517.2	-	0	33	0	C	NM_153456		97485218	1	tier1	-	no_errors	ENST00000376705	ensembl	human	known	74_37	silent	31.58	26	12	SNP	0.953	T	T	97485218	C	T	97485218	2	4	175	1	0	0	0	0	0	0	0	1	7399	726	26	3		3	HS6ST3	13	97485218	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	58221345	97485218	17684660	83	43841											
ZIC5	85416	genome.wustl.edu	37	chr13	100622679	100622679	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gggggcggtggcggcggcggCggcggcggcggcggcggcgg	0	1	29	11	11	0	0	0	0	0	0	0	0	0	0	0	14	0	0	0	14	0	0			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr13:100622679C>T	ENST00000267294.4	-	1	1484	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	417	Pro-rich.				cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					gcggcggcggcggcggcggcg	0.716																																																	0													2	3	3					13																	100622679		1539	3180	4719	SO:0001819	synonymous_variant	0			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1251G>A	13.37:g.100622679C>T			Q5VYB0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P417	ENST00000267294.4	37	c.1251	CCDS9494.2	13																																																																																			ZIC5	-	NULL	ENSG00000139800		0.716	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	HGNC	protein_coding	OTTHUMT00000045623.3		0	17	0	C	NM_033132		100622679	-1			no_errors	ENST00000267294	ensembl	human	known	74_37	silent	8.33	22	2	SNP	0.808	T	T	100622679	C	T	100622679	2	4	175	1	0	0	0	0	0	0	0	1	17730	755	27	1		1	ZIC5	13	100622679	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	3137461	100622679	14547199	84	43842											
TUBGCP3	10426	genome.wustl.edu	37	chr13	113201973	113201973	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcaagggtcttcagtcGtattttgggatcataggtcc	7	12	13	9	2	3	0	2	0	1	0	5	1	4	1	2	4	0	2	2	4	3	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr13:113201973G>A	ENST00000261965.3	-	10	1315	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.R377*|TUBGCP3_ENST00000462580.1_5'Flank	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	377					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)					GTCTTCAGTCGTATTTTGGGA	0.542																																																	0													100	88	92					13																	113201973		2203	4300	6503	SO:0001587	stop_gained	0			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.1129C>T	13.37:g.113201973G>A	ENSP00000261965:p.Arg377*		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Nonsense_Mutation	SNP	pfam_TUBGCP	p.R377*	ENST00000261965.3	37	c.1129	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	G	37	6.520065	0.97633	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	.	.	.	4.7	2.15	0.27550	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.6822	11.5542	0.50737	0.0:0.0:0.29:0.71	.	.	.	.	X	377	.	ENSP00000261965:R377X	R	-	1	2	TUBGCP3	112249974	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.187000	0.42602	0.179000	0.19938	-0.743000	0.03520	CGA	TUBGCP3	-	pfam_TUBGCP	ENSG00000126216		0.542	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2		0	25	0	G	NM_006322		113201973	-1			no_errors	ENST00000261965	ensembl	human	known	74_37	nonsense	8.11	34	3	SNP	1.000	A	A	113201973	G	A	113201973	4	1	175	1	0	0	0	0	0	1	0	0	16816	1153	40	1	1646	1	TUBGCP3	13	113201973	Nonsense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	12579294	113201973	1967905	85	43843											
OR4N2	390429	genome.wustl.edu	37	chr14	20296519	20296519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaaaaggtgtttaataaGcacatagcctgaaaaagggc	18	8	10	5	0	0	2	0	2	0	0	0	2	0	2	1	2	2	2	1	2	7	4	rs201350516		TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr14:20296519G>A	ENST00000315947.1	+	1	912	c.912G>A	c.(910-912)aaG>aaA	p.K304K	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	304						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)		TGTTTAATAAGCACATAGCCT	0.338																																																	0													24	26	25					14																	20296519		2188	4237	6425	SO:0001819	synonymous_variant	0				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.912G>A	14.37:g.20296519G>A			Q6IEY9|Q6IFA2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K304	ENST00000315947.1	37	c.912	CCDS32022.1	14																																																																																			OR4N2	-	NULL	ENSG00000176294		0.338	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	HGNC	protein_coding	OTTHUMT00000409821.2		0	43	0	G			20296519	1			no_errors	ENST00000315947	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.000	A	A	20296519	G	A	20296519	2	1	175	1	0	0	0	0	0	0	0	1	11116	962	34	3		3	OR4N2	14	20296519	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		20296519	87053021	86	43844											
OR6S1	341799	genome.wustl.edu	37	chr14	21109503	21109503	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgcagacatgacagccaaCagtaagaactcggaggcccc	13	4	10	14	2	0	3	0	1	0	2	2	4	1	4	4	2	3	2	4	2	3	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr14:21109503C>T	ENST00000320704.3	-	1	347	c.348G>A	c.(346-348)ctG>ctA	p.L116L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGACAGCCAACAGTAAGAACT	0.517																																																	0													86	80	82					14																	21109503		2203	4300	6503	SO:0001819	synonymous_variant	0			AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.348G>A	14.37:g.21109503C>T			Q6IFJ9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L116	ENST00000320704.3	37	c.348	CCDS32038.1	14																																																																																			OR6S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181803		0.517	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR6S1	HGNC	protein_coding	OTTHUMT00000411227.1	-	0	43	0	C			21109503	-1	tier1	-	no_errors	ENST00000320704	ensembl	human	known	74_37	silent	13.64	38	6	SNP	0.428	T	T	21109503	C	T	21109503	2	4	175	1	0	0	0	0	0	0	0	1	11248	465	17	3		3	OR6S1	14	21109503	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	812984	21109503	86240037	87	43845											
CHD8	57680	genome.wustl.edu	37	chr14	21868426	21868426	+	Frame_Shift_Del	DEL	T	T	-																															aaagtgctttgtgactttacTttttttcctttgcgtccacg																										TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr14:21868426delT	ENST00000557364.1	-	24	4874	c.4611delA	c.(4609-4611)aaafs	p.K1537fs	SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000399982.2_Frame_Shift_Del_p.K1537fs|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K1258fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1537					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)		GTGACTTTACTTTTTTTCCTT	0.413																																																	0													107	97	100					14																	21868426		1839	4101	5940	SO:0001589	frameshift_variant	0			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.4611delA	14.37:g.21868426delT	ENSP00000451601:p.Lys1537fs		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V1538fs	ENST00000557364.1	37	c.4611	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.413	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1		0	41	0	T	NM_020920		21868426	-1	tier1		no_errors	ENST00000399982	ensembl	human	known	74_37	frame_shift_del	34.55	72	38	DEL	1.000	-	-	21868426	T	-	21868426	7	5	175	1	0	1	0	1	0	0	0	0	3338	1606	56	0	3194	0	CHD8	14	21868426	Frame_Shift_Del	DEL	T	TCGA-VR-AA7D-01A-11D-A403-09	758923	21868426	85481114	88	43846											
KLHDC2	23588	genome.wustl.edu	37	chr14	50244592	50244592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggtctacagacagagtGttacagtgggaaagaattga	15	9	12	5	0	2	4	1	1	1	3	2	5	2	5	0	2	2	1	0	2	5	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr14:50244592G>A	ENST00000298307.5	+	4	1248	c.387G>A	c.(385-387)gtG>gtA	p.V129V	KLHDC2_ENST00000557247.1_Silent_p.V129V|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Silent_p.V129V	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	129						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)					CAGACAGAGTGTTACAGTGGG	0.373																																																	0													120	113	116					14																	50244592		2203	4300	6503	SO:0001819	synonymous_variant	0			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.387G>A	14.37:g.50244592G>A			B3KPF9|Q6IAF0|Q86TY9	Silent	SNP	pfam_Kelch_2	p.V129	ENST00000298307.5	37	c.387	CCDS9693.1	14																																																																																			KLHDC2	-	NULL	ENSG00000165516		0.373	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC2	HGNC	protein_coding	OTTHUMT00000276869.1	-	0	46	0	G			50244592	1	tier1	-	no_errors	ENST00000298307	ensembl	human	known	74_37	silent	36.54	33	19	SNP	0.959	A	A	50244592	G	A	50244592	2	1	175	1	0	0	0	0	0	0	0	1	8383	1364	48	3		3	KLHDC2	14	50244592	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	28376166	50244592	57104948	89	43847											
PLEKHG3	26030	genome.wustl.edu	37	chr14	65197822	65197822	+	Missense_Mutation	SNP	A	A	C	1	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	tggaggatgccattgacaccAtgacctgtgtggcctggtac	8	10	13	10	0	0	2	0	2	0	0	0	4	0	4	4	4	2	1	4	4	1	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr14:65197822A>C	ENST00000394691.1	+	7	931	c.784A>C	c.(784-786)Atg>Ctg	p.M262L	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.M206L			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	262	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						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)		CATTGACACCATGACCTGTGT	0.582																																																	0													155	136	143					14																	65197822		2203	4300	6503	SO:0001583	missense	0			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.784A>C	14.37:g.65197822A>C	ENSP00000378183:p.Met262Leu		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.M262L	ENST00000394691.1	37	c.784		14	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656489	0.88154	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	T;T	0.62498	0.02;0.02	4.39	4.39	0.52855	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	M	0.84846	2.72	0.80722	D	1	D;D	0.67145	0.996;0.995	D;D	0.87578	0.998;0.995	T	0.83235	-0.0061	10	0.66056	D	0.02	.	12.9116	0.58182	1.0:0.0:0.0:0.0	.	262;206	A1L390;A1L390-3	PKHG3_HUMAN;.	L	206;262	ENSP00000247226:M206L;ENSP00000378183:M262L	ENSP00000247226:M206L	M	+	1	0	PLEKHG3	64267575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	1.743000	0.51761	0.459000	0.35465	ATG	PLEKHG3	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000126822		0.582	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	-	0	36	0	A	NM_015549		65197822	1	tier1	-	no_errors	ENST00000394691	ensembl	human	known	74_37	missense	39.62	32	21	SNP	1.000	C	C	65197822	A	C	65197822	3	2	175	1	0	0	0	0	1	0	0	0	12109	217	8	4	630	4	PLEKHG3	14	65197822	Missense_Mutation	SNP	A	TCGA-VR-AA7D-01A-11D-A403-09	14953230	65197822	42151718	90	43848											
PIGB	9488	genome.wustl.edu	37	chr15	55621954	55621954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtgctcctggttcacatgGtattgctgtaccagaaccct	7	14	9	11	0	1	1	1	0	0	1	2	1	2	1	3	2	4	5	3	2	3	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr15:55621954G>T	ENST00000164305.5	+	5	846	c.555G>T	c.(553-555)tgG>tgT	p.W185C	PIGB_ENST00000539642.1_5'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	185					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		GGTTCACATGGTATTGCTGTA	0.358																																																	0													202	194	196					15																	55621954		1823	4074	5897	SO:0001583	missense	0			D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	8959	protein-coding gene	gene with protein product	"GPI mannosyltransferase 3", "dol-P-Man dependent GPI mannosyltransferase"	604122	"phosphatidylinositol glycan, class B"			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.555G>T	15.37:g.55621954G>T	ENSP00000164305:p.Trp185Cys		Q53FF9|Q8WVN7	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.W185C	ENST00000164305.5	37	c.555		15	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218624	0.79464	.	.	ENSG00000069943	ENST00000164305	T	0.62941	-0.01	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.71036	2.16	0.80722	D	1	B	0.25521	0.128	B	0.35859	0.212	T	0.66551	-0.5895	10	0.56958	D	0.05	-10.7339	17.1412	0.86754	0.0:0.0:1.0:0.0	.	185	Q92521	PIGB_HUMAN	C	185	ENSP00000164305:W185C	ENSP00000164305:W185C	W	+	3	0	PIGB	53409246	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.872000	0.92352	2.832000	0.97577	0.655000	0.94253	TGG	PIGB	-	pfam_GPI_mannosylTrfase	ENSG00000069943		0.358	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PIGB	HGNC	protein_coding	OTTHUMT00000419687.1	-	0	59	0	G	NM_004855		55621954	1	tier1	-	no_errors	ENST00000164305	ensembl	human	known	74_37	missense	15.13	101	18	SNP	1.000	T	T	55621954	G	T	55621954	3	4	175	1	0	0	0	0	1	0	0	0	11924	1270	44	3	573	3	PIGB	15	55621954	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		55621954	46909438	91	43849											
PYGO1	26108	genome.wustl.edu	37	chr15	55839259	55839259	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	taggaaatagtattatagttGtcatcaaatggattagcagc	15	13	9	4	0	2	0	2	0	0	0	2	2	2	2	0	2	2	3	0	2	8	7			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr15:55839259G>T	ENST00000302000.6	-	3	316	c.222C>A	c.(220-222)gaC>gaA	p.D74E	PYGO1_ENST00000563719.1_Missense_Mutation_p.D74E	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	74	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TATTATAGTTGTCATCAAATG	0.433																																																	0													67	65	66					15																	55839259		2193	4292	6485	SO:0001583	missense	0			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.222C>A	15.37:g.55839259G>T	ENSP00000302327:p.Asp74Glu		A7Y2D6	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.D74E	ENST00000302000.6	37	c.222	CCDS10155.1	15	.	.	.	.	.	.	.	.	.	.	G	16.52	3.144954	0.57044	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.68479	-0.33	5.23	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.71592	0.3358	L	0.36672	1.1	0.43122	D	0.994846	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.72994	-0.4122	10	0.59425	D	0.04	-16.2368	9.8252	0.40908	0.1583:0.0:0.8417:0.0	.	74;74	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	E	74	ENSP00000302327:D74E	ENSP00000302327:D74E	D	-	3	2	PYGO1	53626551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.084000	0.50143	1.313000	0.45069	0.585000	0.79938	GAC	PYGO1	-	NULL	ENSG00000171016		0.433	PYGO1-001	KNOWN	basic|CCDS	protein_coding	PYGO1	HGNC	protein_coding	OTTHUMT00000254977.2		0	49	0	G	NM_015617		55839259	-1			no_errors	ENST00000302000	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	55839259	G	T	55839259	3	4	175	1	0	0	0	0	1	0	0	0	12908	1368	48	3	1041	3	PYGO1	15	55839259	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	217305	55839259	46692133	92	43850											
VPS13C	54832	genome.wustl.edu	37	chr15	62207860	62207860	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtaaaaatgttcttcttcTtgaaagaaaataaaataata	20	14	4	3	0	3	2	0	1	3	1	3	2	3	2	0	0	0	2	0	0	11	9			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr15:62207860T>A	ENST00000261517.5	-	61	8490	c.8417A>T	c.(8416-8418)aAg>aTg	p.K2806M	RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395896.4_Missense_Mutation_p.K2806M|VPS13C_ENST00000249837.3_Missense_Mutation_p.K2763M|VPS13C_ENST00000395898.3_Missense_Mutation_p.K2763M	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						GTTCTTCTTCTTGAAAGAAAA	0.323																																																	0													28	30	29					15																	62207860		2202	4300	6502	SO:0001583	missense	0			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.8417A>T	15.37:g.62207860T>A	ENSP00000261517:p.Lys2806Met			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.K2806M	ENST00000261517.5	37	c.8417	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907324	0.72868	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.32515	1.45;1.45;1.45	5.39	5.39	0.77823	Vacuolar protein sorting-associated protein (1);	0.045697	0.85682	D	0.000000	T	0.56031	0.1958	M	0.74258	2.255	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	D;D;D;D;D	0.74674	0.973;0.973;0.982;0.982;0.984	T	0.60959	-0.7159	10	0.72032	D	0.01	.	15.4116	0.74929	0.0:0.0:0.0:1.0	.	2806;2763;2806;2763;2806	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	M	2763;2806;2806;2806	ENSP00000249837:K2763M;ENSP00000261517:K2806M;ENSP00000379233:K2806M	ENSP00000249837:K2763M	K	-	2	0	VPS13C	59995152	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.979000	0.49313	2.033000	0.60031	0.455000	0.32223	AAG	VPS13C	-	pfam_VPSAP_dom	ENSG00000129003		0.323	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	-	0	64	0	T	NM_017684		62207860	-1	tier1	-	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	33.03	73	36	SNP	1.000	A	A	62207860	T	A	62207860	3	1	175	1	0	0	0	0	1	0	0	0	17240	1609	56	5	2972	5	VPS13C	15	62207860	Missense_Mutation	SNP	T	TCGA-VR-AA7D-01A-11D-A403-09	6368601	62207860	40323532	93	43851											
HERC1	8925	genome.wustl.edu	37	chr15	64026961	64026961	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccatctatcaggtccttGaggtaaaagagaatgaagta	14	11	9	7	0	2	3	1	2	1	1	4	4	4	3	2	2	0	2	2	2	6	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr15:64026961G>A	ENST00000443617.2	-	13	2695	c.2608C>T	c.(2608-2610)Caa>Taa	p.Q870*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	870					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						TCAGGTCCTTGAGGTAAAAGA	0.398																																																	0													90	82	84					15																	64026961		1879	4117	5996	SO:0001587	stop_gained	0			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.2608C>T	15.37:g.64026961G>A	ENSP00000390158:p.Gln870*		Q8IW65	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.Q870*	ENST00000443617.2	37	c.2608	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	40	8.275466	0.98737	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.8961	0.96958	0.0:0.0:1.0:0.0	.	.	.	.	X	870	.	ENSP00000390158:Q870X	Q	-	1	0	HERC1	61814014	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	CAA	HERC1	-	NULL	ENSG00000103657		0.398	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	68	0	G	NM_003922		64026961	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	nonsense	18.80	95	22	SNP	1.000	A	A	64026961	G	A	64026961	4	1	175	1	0	0	0	0	0	1	0	0	7084	1299	45	3	12241	3	HERC1	15	64026961	Nonsense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	1819101	64026961	38504431	94	43852											
TRIP4	9325	genome.wustl.edu	37	chr15	64692982	64692982	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatattttacagcgtgactCaaacaagagccagaaactgc	16	8	8	9	1	1	4	1	1	0	3	1	4	1	4	1	0	6	0	1	0	5	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr15:64692982C>G	ENST00000261884.3	+	5	719	c.659C>G	c.(658-660)tCa>tGa	p.S220*	RN7SL595P_ENST00000582065.1_RNA|TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	220					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						CAGCGTGACTCAAACAAGAGC	0.393																																																	0													97	93	95					15																	64692982		2203	4300	6503	SO:0001587	stop_gained	0			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.659C>G	15.37:g.64692982C>G	ENSP00000261884:p.Ser220*		B2RAS0|Q96ED7|Q9UKH0	Nonsense_Mutation	SNP	pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain	p.S220*	ENST00000261884.3	37	c.659	CCDS10194.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.487445	0.96323	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-2.7262	17.9747	0.89123	0.0:1.0:0.0:0.0	.	.	.	.	X	220	.	ENSP00000261884:S220X	S	+	2	0	TRIP4	62480035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.814000	0.75236	2.746000	0.94184	0.591000	0.81541	TCA	TRIP4	-	NULL	ENSG00000103671		0.393	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP4	HGNC	protein_coding	OTTHUMT00000256635.2	-	0	66	0	C	NM_016213		64692982	1	tier1	-	no_errors	ENST00000261884	ensembl	human	known	74_37	nonsense	37.93	108	66	SNP	1.000	G	G	64692982	C	G	64692982	4	3	175	1	0	0	0	0	0	1	0	0	16606	838	29	5	677	5	TRIP4	15	64692982	Nonsense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	666021	64692982	37838410	95	43853											
ISG20	3669	genome.wustl.edu	37	chr15	89195433	89195433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatgagcggctacacaatCtacgacacgtccactgacag	13	6	9	13	3	1	2	0	2	1	0	2	4	2	2	1	1	3	1	1	1	3	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr15:89195433C>G	ENST00000306072.5	+	3	679	c.321C>G	c.(319-321)atC>atG	p.I107M	ISG20_ENST00000560741.1_Missense_Mutation_p.I107M|ISG20_ENST00000560746.1_3'UTR	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	107					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511)			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			GCTACACAATCTACGACACGT	0.592																																																	0													174	140	152					15																	89195433		2200	4299	6499	SO:0001583	missense	0			X89773	CCDS10345.1	15q26	2006-02-22	2002-08-29		ENSG00000172183	ENSG00000172183			6130	protein-coding gene	gene with protein product		604533	"interferon stimulated gene (20kD)"			9235947, 9605874	Standard	NM_002201		Approved	HEM45, CD25	uc002bmv.1	Q96AZ6	OTTHUMG00000148679	ENST00000306072.5:c.321C>G	15.37:g.89195433C>G	ENSP00000306565:p.Ile107Met		O00441|O00586	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.I107M	ENST00000306072.5	37	c.321	CCDS10345.1	15	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927333	0.34002	.	.	ENSG00000172183	ENST00000306072;ENST00000546338	T	0.34275	1.37	4.58	3.66	0.41972	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.472506	0.21722	N	0.070111	T	0.43055	0.1230	M	0.87269	2.87	0.80722	D	1	B	0.33345	0.409	B	0.33960	0.173	T	0.45293	-0.9271	10	0.66056	D	0.02	-7.7348	8.7793	0.34781	0.0:0.8933:0.0:0.1067	.	107	Q96AZ6	ISG20_HUMAN	M	107;115	ENSP00000306565:I107M	ENSP00000306565:I107M	I	+	3	3	ISG20	86996437	0.687000	0.27671	0.727000	0.30756	0.113000	0.19764	0.877000	0.28106	0.922000	0.37019	0.491000	0.48974	ATC	ISG20	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000172183		0.592	ISG20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISG20	HGNC	protein_coding	OTTHUMT00000309069.2	-	0	40	0	C	NM_002201		89195433	1	tier1	-	no_errors	ENST00000306072	ensembl	human	known	74_37	missense	15.38	66	12	SNP	0.943	G	G	89195433	C	G	89195433	3	3	175	1	0	0	0	0	1	0	0	0	7881	903	32	5	327	5	ISG20	15	89195433	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	24502451	89195433	13335959	96	43854											
CREBBP	1387	genome.wustl.edu	37	chr16	3788617	3788617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcatggtaaacggctgtgCggaggcaacgtggccggaag	9	7	16	9	4	1	0	1	0	1	0	2	2	1	2	1	6	3	3	1	6	4	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr16:3788617C>A	ENST00000262367.5	-	26	5146	c.4337G>T	c.(4336-4338)cGc>cTc	p.R1446L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Acetyl-CoA binding. {ECO:0000250|UniProtKB:Q09472}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1446H(4)|p.R1446L(3)		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)		AACGGCTGTGCGGAGGCAACG	0.408			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	7	Substitution - Missense(7)	haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)											75	68	70					16																	3788617		2197	4300	6497	SO:0001583	missense	0			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.4337G>T	16.37:g.3788617C>A	ENSP00000262367:p.Arg1446Leu		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1446L	ENST00000262367.5	37	c.4337	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	c	24.5	4.536520	0.85812	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94000	-3.33;-3.33	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000004	D	0.97974	0.9333	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98994	1.0809	10	0.87932	D	0	-29.6499	19.2588	0.93959	0.0:1.0:0.0:0.0	.	1476;1446	Q4LE28;Q92793	.;CBP_HUMAN	L	1446;1476;1408;35	ENSP00000262367:R1446L;ENSP00000371502:R1408L	ENSP00000262367:R1446L	R	-	2	0	CREBBP	3728618	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	7.755000	0.85180	2.638000	0.89438	0.561000	0.74099	CGC	CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000005339		0.408	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	-	0	84	0	C	NM_004380		3788617	-1	tier1	-	no_errors	ENST00000262367	ensembl	human	known	74_37	missense	34.59	87	46	SNP	1.000	A	A	3788617	C	A	3788617	3	1	175	1	0	0	0	0	1	0	0	0	3868	768	27	2	3015	2	CREBBP	16	3788617	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09		3788617	86566136	97	43855											
SEPT12	124404	genome.wustl.edu	37	chr16	4827874	4827874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggtggtcagctgtcctgggGaggccggggccaggttcacc	4	7	19	11	1	2	0	2	0	0	0	3	1	3	1	4	8	1	2	4	8	0	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr16:4827874G>A	ENST00000268231.8	-	10	1264	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	SEPT12_ENST00000396693.5_Missense_Mutation_p.S288F	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	334					cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTGTCCTGGGGAGGCCGGGGC	0.632																																																	0													28	29	28					16																	4827874		2176	4274	6450	SO:0001583	missense	0			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.1001C>T	16.37:g.4827874G>A	ENSP00000268231:p.Ser334Phe		Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_AIG1,superfamily_P-loop_NTPase,pirsf_Septin	p.S334F	ENST00000268231.8	37	c.1001	CCDS10522.1	16	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159586	0.57368	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.54071	0.59;0.6	4.59	4.59	0.56863	.	0.584725	0.15255	N	0.272092	T	0.44726	0.1307	N	0.08118	0	0.09310	N	1	P;P	0.47604	0.875;0.898	P;P	0.51355	0.667;0.553	T	0.39272	-0.9622	10	0.36615	T	0.2	.	15.2815	0.73787	0.0:0.0:1.0:0.0	.	288;334	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	F	288;334	ENSP00000379922:S288F;ENSP00000268231:S334F	ENSP00000268231:S334F	S	-	2	0	SEPT12	4767875	0.063000	0.20901	0.088000	0.20740	0.372000	0.29890	2.221000	0.42917	2.538000	0.85594	0.462000	0.41574	TCC	SEPT12	-	pirsf_Septin	ENSG00000140623		0.632	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT12	HGNC	protein_coding	OTTHUMT00000251645.2	-	0	53	0	G	NM_144605		4827874	-1	tier1	-	no_errors	ENST00000268231	ensembl	human	known	74_37	missense	38.33	37	23	SNP	0.020	A	A	4827874	G	A	4827874	3	1	175	1	0	0	0	0	1	0	0	0	14107	1174	41	3	79	3	SEPT12	16	4827874	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	1039257	4827874	85526879	98	43856											
TMC5	79838	genome.wustl.edu	37	chr16	19475199	19475199	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcaagtttggaaccagcgtCctctcctatttcaactttct	8	14	7	12	1	3	0	1	0	2	0	5	1	4	1	3	2	3	2	3	2	4	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr16:19475199C>T	ENST00000396229.2	+	8	2087	c.1338C>T	c.(1336-1338)gtC>gtT	p.V446V	TMC5_ENST00000219821.5_Silent_p.V200V|TMC5_ENST00000561503.1_Silent_p.V87V|TMC5_ENST00000542583.2_Silent_p.V446V|TMC5_ENST00000564959.1_Silent_p.V129V|TMC5_ENST00000381414.4_Silent_p.V446V|TMC5_ENST00000541464.1_Silent_p.V446V	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	446					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						GAACCAGCGTCCTCTCCTATT	0.448																																																	0													136	117	123					16																	19475199		2197	4300	6497	SO:0001819	synonymous_variant	0			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.1338C>T	16.37:g.19475199C>T			Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	pfam_TMC	p.V446	ENST00000396229.2	37	c.1338	CCDS45431.1	16																																																																																			TMC5	-	NULL	ENSG00000103534		0.448	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	-	0	51	0	C	NM_024780		19475199	1	tier1	-	no_errors	ENST00000396229	ensembl	human	known	74_37	silent	38.46	24	15	SNP	0.999	T	T	19475199	C	T	19475199	2	4	175	1	0	0	0	0	0	0	0	1	16035	842	30	3		3	TMC5	16	19475199	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	14647325	19475199	70879554	99	43857											
COG7	91949	genome.wustl.edu	37	chr16	23421669	23421669	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgcaaaagctctccacaGgtggctattatcctaaacaa	13	9	7	12	1	1	0	0	0	1	0	3	0	2	0	3	2	3	3	3	2	7	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr16:23421669G>T	ENST00000307149.5	-	11	1607	c.1422C>A	c.(1420-1422)acC>acA	p.T474T		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	474					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GCTCTCCACAGGTGGCTATTA	0.448																																																	0													84	64	71					16																	23421669		2197	4300	6497	SO:0001819	synonymous_variant	0			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1422C>A	16.37:g.23421669G>T			Q6UWU7	Silent	SNP	pfam_COG7	p.T474	ENST00000307149.5	37	c.1422	CCDS10610.1	16																																																																																			COG7	-	pfam_COG7	ENSG00000168434		0.448	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG7	HGNC	protein_coding	OTTHUMT00000211625.1	-	0	59	0	G			23421669	-1	tier1	-	no_errors	ENST00000307149	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	T	T	23421669	G	T	23421669	2	4	175	1	0	0	0	0	0	0	0	1	3670	987	35	3		3	COG7	16	23421669	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	3946470	23421669	66933084	100	43858											
DOC2A	8448	genome.wustl.edu	37	chr16	30020351	30020351	+	Missense_Mutation	SNP	T	T	A	0	1	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	cgtgatgtcgtcatctgtgaTcccgctgtaagtcaggtcct	6	13	11	11	3	3	2	2	2	1	0	6	2	5	2	2	1	0	2	2	1	1	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr16:30020351T>A	ENST00000350119.4	-	5	683	c.493A>T	c.(493-495)Atc>Ttc	p.I165F	DOC2A_ENST00000564944.1_Missense_Mutation_p.I165F|DOC2A_ENST00000564979.1_Missense_Mutation_p.I165F	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	165	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						TCATCTGTGATCCCGCTGTAA	0.557																																																	0													215	178	190					16																	30020351		2197	4300	6497	SO:0001583	missense	0			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.493A>T	16.37:g.30020351T>A	ENSP00000340017:p.Ile165Phe		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.I165F	ENST00000350119.4	37	c.493	CCDS10666.1	16	.	.	.	.	.	.	.	.	.	.	T	14.14	2.447333	0.43429	.	.	ENSG00000149927	ENST00000350119	T	0.44482	0.92	5.58	4.47	0.54385	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.227351	0.30584	N	0.009302	T	0.47248	0.1435	N	0.25426	0.745	0.53688	D	0.999973	D	0.89917	1.0	D	0.81914	0.995	T	0.33059	-0.9883	10	0.31617	T	0.26	.	10.0955	0.42473	0.1504:0.0:0.0:0.8496	.	165	Q14183	DOC2A_HUMAN	F	165	ENSP00000340017:I165F	ENSP00000340017:I165F	I	-	1	0	DOC2A	29927852	1.000000	0.71417	0.640000	0.29408	0.126000	0.20510	7.557000	0.82243	0.917000	0.36895	0.402000	0.26972	ATC	DOC2A	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,pfscan_C2_dom	ENSG00000149927		0.557	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOC2A	HGNC	protein_coding	OTTHUMT00000255148.2	-	0	46	0	T	NM_003586		30020351	-1	tier1	-	no_errors	ENST00000350119	ensembl	human	known	74_37	missense	32.00	34	16	SNP	0.943	A	A	30020351	T	A	30020351	3	1	175	1	0	0	0	0	1	0	0	0	4697	1435	50	5	737	5	DOC2A	16	30020351	Missense_Mutation	SNP	T	TCGA-VR-AA7D-01A-11D-A403-09	6598682	30020351	60334402	101	43859											
RPGRIP1L	23322	genome.wustl.edu	37	chr16	53679899	53679899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aactgagttgagcagttttgGgtgcttgctgacttaactgg	8	14	13	6	0	0	3	0	3	0	0	0	3	0	3	0	2	5	5	0	2	2	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr16:53679899G>T	ENST00000379925.3	-	17	2371	c.2321C>A	c.(2320-2322)cCc>cAc	p.P774H	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.P774H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.P774H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.P774H	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	774					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)	p.P774H(1)		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)				AGCAGTTTTGGGTGCTTGCTG	0.383																																																	1	Substitution - Missense(1)	kidney(1)											74	70	71					16																	53679899		2198	4300	6498	SO:0001583	missense	0				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.2321C>A	16.37:g.53679899G>T	ENSP00000369257:p.Pro774His		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P774H	ENST00000379925.3	37	c.2321	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	G	8.612	0.889411	0.17540	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.77620	-0.92;-1.11	5.53	4.52	0.55395	C2 calcium/lipid-binding domain, CaLB (1);	0.356358	0.30455	N	0.009593	T	0.48370	0.1496	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.14805	0.001;0.001;0.011;0.003	B;B;B;B	0.13407	0.003;0.002;0.004;0.009	T	0.48080	-0.9066	10	0.15499	T	0.54	-3.3575	3.7564	0.08586	0.1899:0.0:0.6021:0.208	.	774;774;774;774	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	H	774	ENSP00000369257:P774H;ENSP00000262135:P774H	ENSP00000262135:P774H	P	-	2	0	RPGRIP1L	52237400	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.388000	0.34442	2.608000	0.88229	0.555000	0.69702	CCC	RPGRIP1L	-	superfamily_C2_dom	ENSG00000103494		0.383	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1		0	47	0	G	NM_015272		53679899	-1			no_errors	ENST00000379925	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	53679899	G	T	53679899	3	4	175	1	0	0	0	0	1	0	0	0	13595	1232	43	3	1670	3	RPGRIP1L	16	53679899	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	23659548	53679899	36674854	102	43860											
RPGRIP1L	23322	genome.wustl.edu	37	chr16	53720465	53720465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaactcctctatctggcctCtttgtgactgaataacgttt	8	16	6	11	1	3	2	0	2	3	0	4	2	4	2	2	1	2	1	2	1	4	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr16:53720465C>G	ENST00000379925.3	-	6	706	c.656G>C	c.(655-657)aGa>aCa	p.R219T	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R219T|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R219T|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R219T	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	219					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)				TATCTGGCCTCTTTGTGACTG	0.363																																																	0													109	104	106					16																	53720465		2198	4300	6498	SO:0001583	missense	0				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.656G>C	16.37:g.53720465C>G	ENSP00000369257:p.Arg219Thr		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R219T	ENST00000379925.3	37	c.656	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327487	0.41197	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.76578	-0.11;-1.03	5.73	2.73	0.32206	.	0.207331	0.51477	D	0.000096	T	0.55273	0.1910	N	0.12182	0.205	0.32169	N	0.581872	P;B;B;B	0.37914	0.611;0.411;0.282;0.328	B;B;B;B	0.33042	0.138;0.103;0.076;0.157	T	0.60855	-0.7180	10	0.28530	T	0.3	-9.6624	9.6381	0.39822	0.0:0.7229:0.0:0.2771	.	219;219;219;219	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	T	219	ENSP00000369257:R219T;ENSP00000262135:R219T	ENSP00000262135:R219T	R	-	2	0	RPGRIP1L	52277966	0.271000	0.24162	0.998000	0.56505	0.990000	0.78478	0.364000	0.20325	0.883000	0.36040	0.655000	0.94253	AGA	RPGRIP1L	-	NULL	ENSG00000103494		0.363	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	-	0	68	0	C	NM_015272		53720465	-1	tier1	-	no_errors	ENST00000379925	ensembl	human	known	74_37	missense	36.56	59	34	SNP	0.990	G	G	53720465	C	G	53720465	3	3	175	1	0	0	0	0	1	0	0	0	13595	913	32	5	3379	5	RPGRIP1L	16	53720465	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	40566	53720465	36634288	103	43861											
FAM57A	79850	genome.wustl.edu	37	chr17	644588	644588	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgaatggaatcctcacGctggccaccttcctttcctg	8	11	9	13	1	1	1	1	1	0	0	4	2	4	2	5	3	0	1	5	3	3	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr17:644588G>T	ENST00000308278.8	+	5	788	c.552G>T	c.(550-552)acG>acT	p.T184T	FAM57A_ENST00000572018.1_3'UTR|FAM57A_ENST00000301324.8_Silent_p.T152T	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	184	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		GAATCCTCACGCTGGCCACCT	0.532																																																	0													152	131	138					17																	644588		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.552G>T	17.37:g.644588G>T			A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Silent	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.T184	ENST00000308278.8	37	c.552	CCDS10996.1	17																																																																																			FAM57A	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000167695		0.532	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM57A	HGNC	protein_coding	OTTHUMT00000437155.2	-	0	37	0	G	NM_024792		644588	1	tier1	-	no_errors	ENST00000308278	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.793	T	T	644588	G	T	644588	2	4	175	1	0	0	0	0	0	0	0	1	5610	1074	38	2		2	FAM57A	17	644588	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		644588	80550622	104	43862											
SLC43A2	124935	genome.wustl.edu	37	chr17	1479963	1479963	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaagggcgaagagcgcGctgatcagagactgcagtcc	11	5	15	10	3	1	4	1	1	0	3	2	6	2	4	1	1	3	3	1	1	2	0	rs142934102		TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr17:1479963G>A	ENST00000301335.5	-	13	1564	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	SLC43A2_ENST00000382147.4_Silent_p.S496S|SLC43A2_ENST00000412517.3_Silent_p.S355S|SLC43A2_ENST00000571650.1_Silent_p.S496S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	492					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CGAAGAGCGCGCTGATCAGAG	0.637													G|||	1	0.000199681	0	0	5008	,	,		14140	0		0.001	False		,,,				2504	0																0								G		0,4406		0,0,2203	46	44	45		1476	-10	0.1	17	dbSNP_134	45	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	SLC43A2	NM_152346.1		0,6,6497	AA,AG,GG		0.0698,0.0,0.0461		492/570	1479963	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	0			BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1476C>T	17.37:g.1479963G>A			B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S496	ENST00000301335.5	37	c.1488	CCDS11006.1	17																																																																																			SLC43A2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000167703		0.637	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	SLC43A2	HGNC	protein_coding	OTTHUMT00000206717.4	-	0	34	0	G	NM_152346		1479963	-1	tier1	rs142934102	no_errors	ENST00000382147	ensembl	human	known	74_37	silent	29.17	34	14	SNP	0.852	A	A	1479963	G	A	1479963	2	1	175	1	0	0	0	0	0	0	0	1	14678	1078	38	1		1	SLC43A2	17	1479963	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	835375	1479963	79715247	105	43863											
RAP1GAP2	23108	genome.wustl.edu	37	chr17	2901588	2901588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaacacgccgtttgtccCagacatgatagcctccaatt	12	9	8	12	2	0	2	0	1	0	1	2	3	2	3	4	1	2	1	4	1	4	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr17:2901588C>A	ENST00000254695.8	+	14	1208	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.P354Q|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.P358Q|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.P373Q	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	373	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						CCGTTTGTCCCAGACATGATA	0.473																																																	0													135	134	134					17																	2901588		2014	4180	6194	SO:0001583	missense	0			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.1118C>A	17.37:g.2901588C>A	ENSP00000254695:p.Pro373Gln		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.P373Q	ENST00000254695.8	37	c.1118	CCDS45573.1	17	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981457	0.93044	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.65	5.65	0.86999	Rap/ran-GAP (2);	0.102198	0.64402	D	0.000002	D	0.98005	0.9343	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98753	1.0721	10	0.87932	D	0	-9.0925	18.7095	0.91651	0.0:1.0:0.0:0.0	.	358;373	Q684P5-2;Q684P5	.;RPGP2_HUMAN	Q	373;358;354;373	ENSP00000254695:P373Q;ENSP00000389824:P358Q;ENSP00000439688:P354Q;ENSP00000444890:P373Q	ENSP00000254695:P373Q	P	+	2	0	RAP1GAP2	2848338	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.818000	0.86416	2.666000	0.90696	0.555000	0.69702	CCA	RAP1GAP2	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000132359		0.473	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	-	0	44	0	C			2901588	1	tier1	-	no_errors	ENST00000254695	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	A	A	2901588	C	A	2901588	3	1	175	1	0	0	0	0	1	0	0	0	13083	594	21	3	1172	3	RAP1GAP2	17	2901588	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	1421625	2901588	78293622	106	43864											
TP53	7157	genome.wustl.edu	37	chr17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgcgggtgccgggcggggGtgtggaatcaacccacagct	7	5	18	11	4	1	0	1	0	0	0	1	2	1	1	2	5	3	1	2	5	2	0	rs28934874|rs137852790|rs137852791		TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr17:7578479G>A	ENST00000269305.4	-	5	640	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000420246.2_Missense_Mutation_p.P151S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGGCGGGGGTGTGGAATCA	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(1)	GRCh37	CM012662|CM941326	TP53	M	rs28934874						55	55	55					17																	7578479		2203	4300	6503	SO:0001583	missense	0	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.451C>T	17.37:g.7578479G>A	ENSP00000269305:p.Pro151Ser		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P151S	ENST00000269305.4	37	c.451	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460739	0.63513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999985	D;P;P;P;D;P;D	0.89917	0.99;0.941;0.92;0.835;0.98;0.953;1.0	P;P;P;P;P;P;D	0.97110	0.793;0.749;0.814;0.652;0.837;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151S;ENSP00000352610:P151S;ENSP00000269305:P151S;ENSP00000398846:P151S;ENSP00000391127:P151S;ENSP00000391478:P151S;ENSP00000425104:P19S;ENSP00000423862:P58S;ENSP00000424104:P151S	ENSP00000269305:P151S	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	15	0	G	NM_000546		7578479	-1	tier1	rs28934874	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	86.11	5	31	SNP	0.999	A	A	7578479	G	A	7578479	3	1	175	1	0	0	0	0	1	0	0	0	16429	1261	44	3	847	3	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	4676891	7578479	73616731	107	43865											
TOP3A	7156	genome.wustl.edu	37	chr17	18217912	18217912	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatcggaacgcgctttcttaCccgcctcatgcgaccgtttg	6	11	10	14	6	2	0	1	0	1	0	3	3	2	1	3	1	3	2	3	1	2	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr17:18217912C>T	ENST00000321105.5	-	1	395		c.e1+1		TOP3A_ENST00000542570.1_Splice_Site|SMCR8_ENST00000406438.3_5'Flank|TOP3A_ENST00000582230.1_Splice_Site	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha						DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CGCTTTCTTACCCGCCTCATG	0.622																																																	0													58	49	52					17																	18217912		2203	4300	6503	SO:0001630	splice_region_variant	0			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.180+1G>A	17.37:g.18217912C>T			A8KA61|B4DK80|D3DXC7|Q13473	Splice_Site	SNP	-	e1+1	ENST00000321105.5	37	c.180+1	CCDS11194.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.387161	0.95988	.	.	ENSG00000177302	ENST00000412083;ENST00000321105	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4628	0.94924	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOP3A	18158637	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.928000	0.75846	2.837000	0.97791	0.655000	0.94253	.	TOP3A	-	-	ENSG00000177302		0.622	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2		0	20	0	C		Intron	18217912	-1			no_errors	ENST00000321105	ensembl	human	known	74_37	splice_site	7.50	37	3	SNP	1.000	T	T	18217912	C	T	18217912	5	4	175	1	0	0	0	0	0	0	1	0	16415	521	18	3	2900	3	TOP3A	17	18217912	Splice_Site	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	10639433	18217912	62977298	108	43866											
NAGLU	4669	genome.wustl.edu	37	chr17	40695400	40695400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	agtggtctattccctcatggCtgagctgggctggcgaaagg	7	10	15	9	1	2	1	1	1	1	0	3	2	3	1	1	5	1	3	1	5	2	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr17:40695400C>T	ENST00000225927.2	+	6	1477	c.1376C>T	c.(1375-1377)gCt>gTt	p.A459V	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	459					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)	TCCCTCATGGCTGAGCTGGGC	0.662																																																	0													29	25	27					17																	40695400		2203	4299	6502	SO:0001583	missense	0				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.1376C>T	17.37:g.40695400C>T	ENSP00000225927:p.Ala459Val			Missense_Mutation	SNP	pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF	p.A459V	ENST00000225927.2	37	c.1376	CCDS11427.1	17	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274618	0.59649	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98762	-5.12	4.27	3.21	0.36854	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.228461	0.45361	D	0.000377	D	0.97501	0.9182	M	0.72894	2.215	0.30208	N	0.798028	P	0.50528	0.936	P	0.48304	0.573	D	0.94889	0.8046	10	0.44086	T	0.13	-7.2859	6.748	0.23472	0.3041:0.5337:0.1622:0.0	.	459	P54802	ANAG_HUMAN	V	459;135	ENSP00000225927:A459V	ENSP00000225927:A459V	A	+	2	0	NAGLU	37948926	0.885000	0.30320	0.997000	0.53966	0.924000	0.55760	1.506000	0.35747	2.389000	0.81357	0.313000	0.20887	GCT	NAGLU	-	pfam_NAGLU_tim-barrel	ENSG00000108784		0.662	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGLU	HGNC	protein_coding	OTTHUMT00000450385.1		0	33	0	C	NM_000263		40695400	1			no_errors	ENST00000225927	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.977	T	T	40695400	C	T	40695400	3	4	175	1	0	0	0	0	1	0	0	0	10181	797	28	3	1398	3	NAGLU	17	40695400	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	22477488	40695400	40499810	109	43867											
NPEPPS	9520	genome.wustl.edu	37	chr17	45668212	45668212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgattacacccgtgcccagGagcttgacgccttagataac	10	9	9	13	2	0	3	0	2	0	1	0	4	0	4	3	1	4	1	3	1	3	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr17:45668212G>A	ENST00000322157.4	+	10	1462	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	NPEPPS_ENST00000530173.1_Missense_Mutation_p.E405K|NPEPPS_ENST00000544660.1_Missense_Mutation_p.E329K|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	409					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						CCGTGCCCAGGAGCTTGACGC	0.418																																																	0													53	44	47					17																	45668212		1800	4041	5841	SO:0001583	missense	0			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.1225G>A	17.37:g.45668212G>A	ENSP00000320324:p.Glu409Lys		B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.E409K	ENST00000322157.4	37	c.1225	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253959	0.59212	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.02579	4.24;4.24;4.24;4.24;4.24	5.75	5.75	0.90469	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.043858	0.85682	D	0.000000	T	0.03827	0.0108	L	0.34521	1.04	0.80722	D	1	B;B;B	0.30763	0.294;0.057;0.122	B;B;B	0.31191	0.125;0.043;0.068	T	0.58255	-0.7668	10	0.18276	T	0.48	.	19.9233	0.97095	0.0:0.0:1.0:0.0	.	409;405;409	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	K	405;409;396;329;92;106	ENSP00000433287:E405K;ENSP00000320324:E409K;ENSP00000442461:E329K;ENSP00000435639:E92K;ENSP00000435966:E106K	ENSP00000320324:E409K	E	+	1	0	NPEPPS	43023211	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.714000	0.98744	2.704000	0.92352	0.591000	0.81541	GAG	NPEPPS	-	pfam_Peptidase_M1_N	ENSG00000141279		0.418	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	-	0	174	0	G	NM_006310		45668212	1	tier1	-	no_errors	ENST00000322157	ensembl	human	known	74_37	missense	12.08	182	25	SNP	1.000	A	A	45668212	G	A	45668212	3	1	175	1	0	0	0	0	1	0	0	0	10614	1175	41	3	1263	3	NPEPPS	17	45668212	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	4972812	45668212	35526998	110	43868											
HGS	9146	genome.wustl.edu	37	chr17	79660958	79660958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccatgccctcggcctcctCagcgccccccgccagcagcc	4	4	9	24	3	1	0	1	0	0	0	3	0	2	0	9	1	4	1	9	1	0	0			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr17:79660958C>T	ENST00000329138.4	+	11	1034	c.899C>T	c.(898-900)tCa>tTa	p.S300L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	300	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)			TCGGCCTCCTCAGCGCCCCCC	0.647																																																	0													32	36	35					17																	79660958		2203	4300	6503	SO:0001583	missense	0			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.899C>T	17.37:g.79660958C>T	ENSP00000331201:p.Ser300Leu		Q9NR36	Missense_Mutation	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.S300L	ENST00000329138.4	37	c.899	CCDS11784.1	17	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857061	0.51376	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.45668	0.89	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	M	0.72118	2.19	0.80722	D	1	P	0.51933	0.949	P	0.53360	0.724	T	0.58278	-0.7664	10	0.40728	T	0.16	-14.8196	16.7706	0.85536	0.0:1.0:0.0:0.0	.	300	O14964	HGS_HUMAN	L	300	ENSP00000331201:S300L	ENSP00000331201:S300L	S	+	2	0	HGS	77271363	1.000000	0.71417	0.089000	0.20774	0.003000	0.03518	7.165000	0.77544	2.186000	0.69663	0.655000	0.94253	TCA	HGS	-	pirsf_Ubi-bd_Hrs_VPS27	ENSG00000185359		0.647	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	-	0	31	0	C	NM_004712		79660958	1	tier1	-	no_errors	ENST00000329138	ensembl	human	known	74_37	missense	24.39	31	10	SNP	0.992	T	T	79660958	C	T	79660958	3	4	175	1	0	0	0	0	1	0	0	0	7114	838	29	3	941	3	HGS	17	79660958	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	33992746	79660958	1534252	111	43869											
NARF	26502	genome.wustl.edu	37	chr17	80445912	80445912	+	Missense_Mutation	SNP	A	A	T	1	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	gcgtccggagtccagtgcacAcgtgcaggagctgtaccagg	8	6	15	12	3	0	0	0	0	0	0	2	2	2	2	3	3	4	4	3	3	1	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr17:80445912A>T	ENST00000309794.11	+	11	1448	c.1250A>T	c.(1249-1251)cAc>cTc	p.H417L	NARF_ENST00000457415.3_Missense_Mutation_p.H463L|NARF_ENST00000345415.7_Missense_Mutation_p.H369L|NARF_ENST00000390006.4_Missense_Mutation_p.H358L	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	417						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCCAGTGCACACGTGCAGGAG	0.627																																																	0													88	76	80					17																	80445912		2203	4300	6503	SO:0001583	missense	0			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1250A>T	17.37:g.80445912A>T	ENSP00000309899:p.His417Leu		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.H417L	ENST00000309794.11	37	c.1250	CCDS32777.1	17	.	.	.	.	.	.	.	.	.	.	.	6.370	0.436365	0.12104	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.40476	1.03;1.03;1.03	5.58	3.37	0.38596	Iron hydrogenase, small subunit-like (3);Iron hydrogenase (1);	0.514142	0.23395	N	0.048651	T	0.35828	0.0945	L	0.41236	1.265	0.21841	N	0.999516	P;B;B;B	0.36392	0.551;0.156;0.237;0.343	B;B;B;B	0.42030	0.373;0.234;0.217;0.345	T	0.14504	-1.0470	10	0.24483	T	0.36	-20.347	9.3894	0.38363	0.8571:0.0:0.1429:0.0	.	463;369;464;417	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	L	358;464;417;369	ENSP00000374656:H358L;ENSP00000309899:H417L;ENSP00000283996:H369L	ENSP00000309899:H417L	H	+	2	0	NARF	78039201	0.003000	0.15002	0.001000	0.08648	0.114000	0.19823	1.982000	0.40638	0.405000	0.25532	0.528000	0.53228	CAC	NARF	-	pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	ENSG00000141562		0.627	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARF	HGNC	protein_coding	OTTHUMT00000443573.2	-	0	24	0	A	NM_031968		80445912	1	tier1	-	no_errors	ENST00000309794	ensembl	human	known	74_37	missense	18.75	26	6	SNP	0.005	T	T	80445912	A	T	80445912	3	4	175	1	0	0	0	0	1	0	0	0	10205	159	6	5	1434	5	NARF	17	80445912	Missense_Mutation	SNP	A	TCGA-VR-AA7D-01A-11D-A403-09	784954	80445912	749298	112	43870											
FAM38B	63895	genome.wustl.edu	37	chr18	10794790	10794790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttggaagcaagttctcctgGctctttcttttctaaaaatc	9	17	6	9	0	4	0	0	0	4	0	6	1	4	1	1	2	1	3	1	2	5	6			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr18:10794790G>T	ENST00000503781.3	-	13	1737	c.1738C>A	c.(1738-1740)Cca>Aca	p.P580T	PIEZO2_ENST00000302079.6_Missense_Mutation_p.P580T|PIEZO2_ENST00000580640.1_Missense_Mutation_p.P580T	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	580					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)										AGTTCTCCTGGCTCTTTCTTT	0.318																																																	0													62	50	54					18																	10794790		692	1591	2283	SO:0001583	missense	0			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.1738C>A	18.37:g.10794790G>T	ENSP00000421377:p.Pro580Thr		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.P580T	ENST00000503781.3	37	c.1738		18	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614468	0.28712	.	.	ENSG00000154864	ENST00000302079	T	0.74209	-0.82	4.97	4.97	0.65823	.	.	.	.	.	T	0.77280	0.4107	L	0.46157	1.445	0.80722	D	1	.	.	.	.	.	.	T	0.73078	-0.4096	7	0.22706	T	0.39	.	18.2293	0.89929	0.0:0.0:1.0:0.0	.	.	.	.	T	580	ENSP00000303316:P580T	ENSP00000303316:P580T	P	-	1	0	FAM38B	10784790	1.000000	0.71417	0.986000	0.45419	0.955000	0.61496	5.232000	0.65332	2.309000	0.77851	0.557000	0.71058	CCA	PIEZO2	-	NULL	ENSG00000154864		0.318	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0	61	0	G	NM_022068		10794790	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.975	T	T	10794790	G	T	10794790	3	4	175	1	0	0	0	0	1	0	0	0	5577	1203	42	3	6680	3	FAM38B	18	10794790	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		10794790	67282458	113	43871											
TUBB6	84617	genome.wustl.edu	37	chr18	12325138	12325139	+	Missense_Mutation	DNP	TG	TG	GT																															ggagctggtggacgcagtgcTggacgtggtgcggaaggagt																										TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr18:12325138_12325139TG>GT	ENST00000317702.5	+	4	584_585	c.350_351TG>GT	c.(349-351)cTG>cGT	p.L117R	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	117					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GACGCAGTGCTGGACGTGGTGC	0.673																																																	0																																										SO:0001583	missense	0			AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"Tubulins"	20776	protein-coding gene	gene with protein product	"tubulin beta MGC4083", "class V beta-tubulin"	615103	"tubulin, beta 6"			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	Exception_encountered	18.37:g.12325138_12325139delinsGT	ENSP00000318697:p.Leu117Arg		B3KM76|Q9HA42	Missense_Mutation|Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.L117R|p.L117	ENST00000317702.5	37	c.350|c.351	CCDS11858.1	18																																																																																			TUBB6	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin	ENSG00000176014		0.673	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB6	HGNC	protein_coding	OTTHUMT00000254600.2	-	0	39|38	0	T|G	NM_032525		12325138|12325139	1	tier1	-	no_errors	ENST00000317702	ensembl	human	known	74_37	missense|silent	22.64|23.08	41|40	12	SNP	1.000|0.999	G|T	GT	12325139	TG	GT	12325138	3	3	175	1	0	0	0	0	1	0	0	0	16809	1580	55	4	364	4	TUBB6	18	12325138	Missense_Mutation	DNP	TG	TCGA-VR-AA7D-01A-11D-A403-09	1530348	12325138	65752110	114	43872											
DSG1	1828	genome.wustl.edu	37	chr18	28913582	28913582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtatgctcttgctgtaagaGgctctgaccgagatggcggg	8	10	15	8	2	2	3	0	1	2	2	2	4	2	3	1	3	2	5	1	3	2	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr18:28913582G>T	ENST00000257192.4	+	7	927	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGCTGTAAGAGGCTCTGACCG	0.428																																																	0													129	117	121					18																	28913582		2203	4300	6503	SO:0001583	missense	0			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.715G>T	18.37:g.28913582G>T	ENSP00000257192:p.Gly239Cys		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.G239C	ENST00000257192.4	37	c.715	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539774	0.65085	.	.	ENSG00000134760	ENST00000257192	T	0.60920	0.15	5.82	5.82	0.92795	Cadherin (5);Cadherin-like (1);	0.091551	0.47852	D	0.000214	T	0.79845	0.4516	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81369	-0.0964	10	0.72032	D	0.01	.	20.088	0.97803	0.0:0.0:1.0:0.0	.	239	Q02413	DSG1_HUMAN	C	239	ENSP00000257192:G239C	ENSP00000257192:G239C	G	+	1	0	DSG1	27167580	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	7.188000	0.77739	2.739000	0.93911	0.655000	0.94253	GGC	DSG1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000134760		0.428	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	-	0	39	0	G	NM_001942		28913582	1	tier1	-	no_errors	ENST00000257192	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	28913582	G	T	28913582	3	4	175	1	0	0	0	0	1	0	0	0	4790	1000	35	3	741	3	DSG1	18	28913582	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	16588444	28913582	49163666	115	43873											
ACAA2	10449	genome.wustl.edu	37	chr18	47318527	47318527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtgataccaaccgatgCattccctgcagtaacagttc	10	11	9	11	1	0	1	0	1	0	0	2	2	1	1	3	1	5	4	3	1	3	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr18:47318527C>T	ENST00000285093.10	-	6	1223	c.748G>A	c.(748-750)Gca>Aca	p.A250T	ACAA2_ENST00000587994.1_Missense_Mutation_p.A247T|ACAA2_ENST00000589432.1_Missense_Mutation_p.A195T	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	250					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						CCAACCGATGCATTCCCTGCA	0.423																																																	0													138	111	120					18																	47318527		2203	4300	6503	SO:0001583	missense	0			D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"mitochondrial 3-oxoacyl-Coenzyme A thiolase"	604770	"acetyl-Coenzyme A acyltransferase 2"			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.748G>A	18.37:g.47318527C>T	ENSP00000285093:p.Ala250Thr		Q9BUT6	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.A250T	ENST00000285093.10	37	c.748	CCDS11939.1	18	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802188	0.90538	.	.	ENSG00000167315	ENST00000285093	D	0.94417	-3.42	5.79	5.79	0.91817	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	D	0.98404	1.0569	10	0.87932	D	0	-23.5987	20.0355	0.97556	0.0:1.0:0.0:0.0	.	250;250	B2RB23;P42765	.;THIM_HUMAN	T	250	ENSP00000285093:A250T	ENSP00000285093:A250T	A	-	1	0	ACAA2	45572525	1.000000	0.71417	0.733000	0.30861	0.468000	0.32798	7.699000	0.84547	2.747000	0.94245	0.643000	0.83706	GCA	ACAA2	-	pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000167315		0.423	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACAA2	HGNC	protein_coding	OTTHUMT00000255921.2	-	0	51	0	C	NM_006111		47318527	-1	tier1	-	no_errors	ENST00000285093	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	47318527	C	T	47318527	3	4	175	1	0	0	0	0	1	0	0	0	105	710	25	3	465	3	ACAA2	18	47318527	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	18404945	47318527	30758721	116	43874											
SMAD4	4089	genome.wustl.edu	37	chr18	48603032	48603032	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatttgcgtcagtgtcatCgacagatgcagcagcaggcg	9	10	13	9	3	2	2	2	1	0	1	3	3	2	2	0	1	4	3	0	1	0	2	rs377767360		TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr18:48603032C>T	ENST00000342988.3	+	11	1871	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R349*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R445*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	445	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R445*(7)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGTGTCATCGACAGATGCA	0.458																																																	46	Whole gene deletion(36)|Substitution - Nonsense(7)|Unknown(2)|Deletion - Frameshift(1)	pancreas(30)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|small_intestine(1)|oesophagus(1)|NS(1)	GRCh37	CM000742	SMAD4	M							43	44	44					18																	48603032		2203	4300	6503	SO:0001587	stop_gained	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1333C>T	18.37:g.48603032C>T	ENSP00000341551:p.Arg445*		A8K405	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R445*	ENST00000342988.3	37	c.1333	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	42	9.519426	0.99193	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3283	0.94273	0.0:1.0:0.0:0.0	.	.	.	.	X	445	.	ENSP00000341551:R445X	R	+	1	2	SMAD4	46857030	1.000000	0.71417	0.643000	0.29450	0.984000	0.73092	4.861000	0.62969	2.861000	0.98227	0.655000	0.94253	CGA	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.458	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	-	0	71	0	C	NM_005359		48603032	1	tier1	-	no_errors	ENST00000342988	ensembl	human	known	74_37	nonsense	53.12	30	34	SNP	1.000	T	T	48603032	C	T	48603032	4	4	175	1	0	0	0	0	0	1	0	0	14805	876	31	1	1371	1	SMAD4	18	48603032	Nonsense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	1284505	48603032	29474216	117	43875											
PRTN3	5657	genome.wustl.edu	37	chr19	846367	846367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtccctcgccgcaaggccgGcatctgcttcgtaagtaacc	7	8	10	16	5	1	0	0	0	1	0	4	0	2	0	4	2	2	5	4	2	3	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:846367G>A	ENST00000234347.5	+	4	636	c.590G>A	c.(589-591)gGc>gAc	p.G197D	PRTN3_ENST00000544537.2_Missense_Mutation_p.G156D	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	197	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAAGGCCGGCATCTGCTTC	0.652																																																	0													51	33	39					19																	846367		2177	4271	6448	SO:0001583	missense	0				CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"myeloblastin", "serine proteinase, neutrophil", "Wegener granulomatosis autoantigen"	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.590G>A	19.37:g.846367G>A	ENSP00000234347:p.Gly197Asp		P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G197D	ENST00000234347.5	37	c.590	CCDS32860.1	19	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564643	0.45694	.	.	ENSG00000196415	ENST00000234347;ENST00000544537	T	0.52526	0.66	3.0	1.91	0.25777	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.37812	0.1017	N	0.03071	-0.42	0.27086	N	0.962964	D	0.89917	1.0	D	0.80764	0.994	T	0.27054	-1.0085	9	0.20046	T	0.44	.	7.888	0.29661	0.0:0.2572:0.7428:0.0	.	197	P24158	PRTN3_HUMAN	D	197;156	ENSP00000234347:G197D	ENSP00000234347:G197D	G	+	2	0	PRTN3	797367	1.000000	0.71417	0.452000	0.26994	0.008000	0.06430	4.007000	0.57093	0.568000	0.29311	0.195000	0.17529	GGC	PRTN3	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000196415		0.652	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTN3	HGNC	protein_coding	OTTHUMT00000457888.2	-	0	51	0	G	NM_002777		846367	1	tier1	-	no_errors	ENST00000234347	ensembl	human	known	74_37	missense	46.67	24	21	SNP	0.580	A	A	846367	G	A	846367	3	1	175	1	0	0	0	0	1	0	0	0	12681	1203	42	3	604	3	PRTN3	19	846367	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		846367	58282616	118	43876											
EEF2	1938	genome.wustl.edu	37	chr19	3980008	3980008	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcccacgaggcccacaatgTtcccacaaggcacatcctcg	10	5	8	18	3	0	0	0	0	0	0	3	1	2	0	4	2	0	2	4	2	2	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:3980008T>C	ENST00000309311.6	-	10	1491	c.1403A>G	c.(1402-1404)aAc>aGc	p.N468S	SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	468					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCACAATGTTCCCACAAGG	0.597																																					Colon(165;1804 1908 4071 6587 18799)												0													62	52	56					19																	3980008		2203	4300	6503	SO:0001583	missense	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1403A>G	19.37:g.3980008T>C	ENSP00000307940:p.Asn468Ser		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.N468S	ENST00000309311.6	37	c.1403	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704548	0.88924	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	D	0.81821	-1.54	5.45	5.45	0.79879	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.91707	0.7378	M	0.92784	3.345	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.93604	0.6933	10	0.87932	D	0	-64.2174	14.6712	0.68945	0.0:0.0:0.0:1.0	.	468	P13639	EF2_HUMAN	S	468	ENSP00000307940:N468S	ENSP00000307940:N468S	N	-	2	0	EEF2	3931008	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.994000	0.88315	2.065000	0.61736	0.459000	0.35465	AAC	EEF2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel	ENSG00000167658		0.597	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	-	0	12	0	T	NM_001961		3980008	-1	tier1	-	no_errors	ENST00000309311	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	C	C	3980008	T	C	3980008	3	2	175	1	0	0	0	0	1	0	0	0	4943	1725	60	4	1197	4	EEF2	19	3980008	Missense_Mutation	SNP	T	TCGA-VR-AA7D-01A-11D-A403-09	3133641	3980008	55148975	119	43877											
KRI1	65095	genome.wustl.edu	37	chr19	10673510	10673510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcctcactgtctgatgacGatgctgttaacccaccaaag	10	10	7	14	1	2	2	1	2	1	0	3	3	3	2	4	0	2	2	4	0	2	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:10673510G>A	ENST00000312962.6	-	4	315	c.296C>T	c.(295-297)tCg>tTg	p.S99L	KRI1_ENST00000537964.1_Intron|KRI1_ENST00000361821.5_Missense_Mutation_p.S95L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	93	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GTCTGATGACGATGCTGTTAA	0.542																																																	0													193	150	165					19																	10673510		2203	4300	6503	SO:0001583	missense	0				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.296C>T	19.37:g.10673510G>A	ENSP00000320917:p.Ser99Leu		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	pfam_KRR1-interact_protein_1	p.S99L	ENST00000312962.6	37	c.296	CCDS12242.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.23|12.23	1.874223|1.874223	0.33069|0.33069	.|.	.|.	ENSG00000129347|ENSG00000129347	ENST00000543682|ENST00000312962;ENST00000361821;ENST00000541101;ENST00000539027	.|T;T;T	.|0.35421	.|1.31;1.31;1.31	4.14|4.14	4.14|4.14	0.48551|0.48551	.|.	.|0.443453	.|0.14838	.|N	.|0.295445	T|T	0.29716|0.29716	0.0742|0.0742	L|L	0.56340|0.56340	1.77|1.77	0.09310|0.09310	N|N	1|1	.|B;P	.|0.36535	.|0.414;0.557	.|B;B	.|0.22753	.|0.041;0.041	T|T	0.14699|0.14699	-1.0463|-1.0463	5|10	.|0.32370	.|T	.|0.25	0.5877|0.5877	13.7055|13.7055	0.62636|0.62636	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|99;95	.|Q8N9T8;D3YTE0	.|KRI1_HUMAN;.	C|L	37|99;95;99;90	.|ENSP00000320917:S99L;ENSP00000355366:S95L;ENSP00000445789:S90L	.|ENSP00000320917:S99L	R|S	-|-	1|2	0|0	KRI1|KRI1	10534510|10534510	0.915000|0.915000	0.31059|0.31059	0.005000|0.005000	0.12908|0.12908	0.011000|0.011000	0.07611|0.07611	3.441000|3.441000	0.52893|0.52893	2.032000|2.032000	0.59987|0.59987	0.393000|0.393000	0.25936|0.25936	CGT|TCG	KRI1	-	NULL	ENSG00000129347		0.542	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000317705.1	-	0	47	0	G	NM_023008		10673510	-1	tier1	-	no_errors	ENST00000312962	ensembl	human	known	74_37	missense	23.73	45	14	SNP	0.031	A	A	10673510	G	A	10673510	3	1	175	1	0	0	0	0	1	0	0	0	8471	1059	37	1	1897	1	KRI1	19	10673510	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	6693502	10673510	48455473	120	43878											
NOTCH3	4854	genome.wustl.edu	37	chr19	15292532	15292532	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacatcgcgggcgcatcGtgggccggcgaaaccaggga	9	4	15	13	6	0	0	0	0	0	0	3	2	1	1	3	4	1	1	3	4	1	0			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:15292532G>A	ENST00000263388.2	-	17	2722	c.2647C>T	c.(2647-2649)Cga>Tga	p.R883*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	883	EGF-like 22; 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)			CGGGCGCATCGTGGGCCGGCG	0.682																																																	0													31	27	28					19																	15292532		2184	4293	6477	SO:0001587	stop_gained	0			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.2647C>T	19.37:g.15292532G>A	ENSP00000263388:p.Arg883*		Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R883*	ENST00000263388.2	37	c.2647	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.440773	0.98286	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	5.45	4.42	0.53409	.	0.000000	0.32244	N	0.006364	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	12.6987	0.57018	0.0805:0.0:0.9195:0.0	.	.	.	.	X	883;833	.	ENSP00000263388:R883X	R	-	1	2	NOTCH3	15153532	0.007000	0.16637	0.095000	0.20976	0.102000	0.19082	1.584000	0.36589	1.309000	0.44985	0.561000	0.74099	CGA	NOTCH3	-	pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.682	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	141	0	G	NM_000435		15292532	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	nonsense	32.37	116	56	SNP	0.993	A	A	15292532	G	A	15292532	4	1	175	1	0	0	0	0	0	1	0	0	10589	1153	40	1	4386	1	NOTCH3	19	15292532	Nonsense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	4619022	15292532	43836451	121	43879											
WIZ	58525	genome.wustl.edu	37	chr19	15538113	15538113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgccgcccatcatcttgGccagggcttttgggcttggc	3	11	13	14	2	2	0	1	0	1	0	2	0	2	0	3	4	1	2	3	4	0	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:15538113G>A	ENST00000389282.4	-	6	3545	c.3332C>T	c.(3331-3333)gCc>gTc	p.A1111V	WIZ_ENST00000545156.1_Missense_Mutation_p.A425V|WIZ_ENST00000263381.7_Missense_Mutation_p.A254V|WIZ_ENST00000599910.2_Missense_Mutation_p.A428V|WIZ_ENST00000599686.3_Missense_Mutation_p.A295V			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1111	Pro-rich.				positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CATCATCTTGGCCAGGGCTTT	0.657																																																	0													26	30	29					19																	15538113		1991	4156	6147	SO:0001583	missense	0			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3332C>T	19.37:g.15538113G>A	ENSP00000373933:p.Ala1111Val		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1111V	ENST00000389282.4	37	c.3332		19	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908794	0.52439	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T	0.03152	4.03	5.67	4.62	0.57501	.	0.472153	0.22188	N	0.063414	T	0.06826	0.0174	L	0.29908	0.895	0.35897	D	0.830083	P;D;D	0.58620	0.791;0.983;0.968	B;P;P	0.56434	0.15;0.798;0.48	T	0.50457	-0.8826	10	0.28530	T	0.3	-14.0189	10.7071	0.45960	0.0:0.143:0.7086:0.1484	.	1111;254;295	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	V	1111;254;295;425	ENSP00000373933:A1111V	ENSP00000263381:A254V	A	-	2	0	WIZ	15399113	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	3.622000	0.54217	1.382000	0.46385	-0.304000	0.09214	GCC	WIZ	-	NULL	ENSG00000011451		0.657	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		-	0	79	0	G	NM_021241		15538113	-1	tier1	-	no_errors	ENST00000389282	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	15538113	G	A	15538113	3	1	175	1	0	0	0	0	1	0	0	0	17424	1203	42	3	1643	3	WIZ	19	15538113	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	245581	15538113	43590870	122	43880											
ATP13A1	57130	genome.wustl.edu	37	chr19	19760397	19760397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	cacgtcagcatgcttcagggCgcccacgtcgttggtgccat	6	9	12	14	4	2	0	2	0	0	0	3	0	2	0	2	2	3	3	2	2	0	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:19760397C>A	ENST00000357324.6	-	19	2637	c.2611G>T	c.(2611-2613)Gcc>Tcc	p.A871S	ATP13A1_ENST00000291503.5_Missense_Mutation_p.A753S	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	871						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						TGCTTCAGGGCGCCCACGTCG	0.577																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												0													112	75	87					19																	19760397		2203	4300	6503	SO:0001583	missense	0			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.2611G>T	19.37:g.19760397C>A	ENSP00000349877:p.Ala871Ser		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.A871S	ENST00000357324.6	37	c.2611	CCDS32970.2	19	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791182	0.90367	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.62105	0.05;0.05	5.58	5.58	0.84498	HAD-like domain (2);	0.046841	0.85682	D	0.000000	D	0.82697	0.5093	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85748	0.1341	10	0.87932	D	0	-27.8469	17.061	0.86547	0.0:1.0:0.0:0.0	.	871;753	Q9HD20;Q9HD20-2	AT131_HUMAN;.	S	753;871	ENSP00000291503:A753S;ENSP00000349877:A871S	ENSP00000291503:A753S	A	-	1	0	ATP13A1	19621397	1.000000	0.71417	0.998000	0.56505	0.655000	0.38815	7.267000	0.78462	2.640000	0.89533	0.561000	0.74099	GCC	ATP13A1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000105726		0.577	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	-	0	31	0	C	NM_020410		19760397	-1	tier1	-	no_errors	ENST00000357324	ensembl	human	known	74_37	missense	30.23	30	13	SNP	1.000	A	A	19760397	C	A	19760397	3	1	175	1	0	0	0	0	1	0	0	0	1124	768	27	2	1035	2	ATP13A1	19	19760397	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	4222284	19760397	39368586	123	43881											
ZNF493	284443	genome.wustl.edu	37	chr19	21606488	21606488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctactaaacataagataattCacactgaagagaaatcccac	19	8	4	10	0	1	3	1	1	0	2	2	4	2	3	1	0	2	0	1	0	7	5			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:21606488C>T	ENST00000355504.4	+	2	909	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.H343Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	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)|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						TAAGATAATTCACACTGAAGA	0.348																																																	0													40	44	43					19																	21606488		2202	4293	6495	SO:0001583	missense	0			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.643C>T	19.37:g.21606488C>T	ENSP00000347691:p.His215Tyr		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H215Y	ENST00000355504.4	37	c.643	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	11.25	1.584106	0.28268	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.26518	1.73;1.73	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53238	0.1784	M	0.92555	3.32	0.80722	D	1	D;D	0.63880	0.977;0.993	P;D	0.68039	0.53;0.955	T	0.58272	-0.7665	9	0.72032	D	0.01	.	8.7583	0.34658	0.0:1.0:0.0:0.0	.	215;343	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	343;215	ENSP00000376110:H343Y;ENSP00000347691:H215Y	ENSP00000347691:H215Y	H	+	1	0	ZNF493	21398328	0.571000	0.26659	0.003000	0.11579	0.003000	0.03518	1.268000	0.33062	0.399000	0.25367	0.404000	0.27445	CAC	ZNF493	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196268		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	-	0	91	0	C	NM_175910		21606488	1	tier1	-	no_errors	ENST00000355504	ensembl	human	known	74_37	missense	38.95	58	37	SNP	0.994	T	T	21606488	C	T	21606488	3	4	175	1	0	0	0	0	1	0	0	0	17992	826	29	3	1104	3	ZNF493	19	21606488	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	1846091	21606488	37522495	124	43882											
MLL4	9757	genome.wustl.edu	37	chr19	36212415	36212415	+	Silent	SNP	C	C	T	0	0	0	1	1	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	aaggccgaggtgtcccctcaCggggctccagctctgagcaa	8	6	13	14	2	2	1	1	1	1	0	4	2	4	1	4	4	2	3	4	4	2	0	rs368953229		TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:36212415C>T	ENST00000222270.7	+	3	2166	c.2166C>T	c.(2164-2166)caC>caT	p.H722H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.H722H|KMT2B_ENST00000341701.1_Missense_Mutation_p.T578M	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	722	Pro-rich.				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)										TGTCCCCTCACGGGGCTCCAG	0.667																																																	0								C		0,4136		0,0,2068	40	49	46		2166	-6.7	0	19		46	1,8421		0,1,4210	no	coding-synonymous	MLL4	NM_014727.1		0,1,6278	TT,TC,CC		0.0119,0.0,0.0080		722/2716	36212415	1,12557	2068	4211	6279	SO:0001819	synonymous_variant	0			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.2166C>T	19.37:g.36212415C>T			O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	NULL	p.T578M	ENST00000222270.7	37	c.1733	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	C	7.551	0.662658	0.14645	0.0	1.19E-4	ENSG00000105663	ENST00000341701	T	0.48201	0.82	4.61	-6.66	0.01789	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.28487	N	0.914684	.	.	.	.	.	.	T	0.44190	-0.9344	6	0.87932	D	0	.	0.7964	0.01067	0.2136:0.3025:0.2171:0.2668	.	.	.	.	M	578	ENSP00000345761:T578M	ENSP00000345761:T578M	T	+	2	0	AD000671.1	40904255	0.000000	0.05858	0.001000	0.08648	0.834000	0.47266	-1.324000	0.02690	-1.282000	0.02396	-0.374000	0.07098	ACG	KMT2B	-	NULL	ENSG00000272333		0.667	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0	133	0	C	NM_014727		36212415	1	tier1	-	no_errors	ENST00000341701	ensembl	human	known	74_37	missense	10.57	110	13	SNP	0.003	T	T	36212415	C	T	36212415	2	4	175	1	0	0	0	0	0	0	0	1	9661	535	19	1		1	MLL4	19	36212415	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	14605927	36212415	22916568	125	43883											
APLP1	333	genome.wustl.edu	37	chr19	36362551	36362551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcatcctgcacggctcggGcatgctcttaccctgtggct	4	11	10	16	2	2	0	1	0	1	0	4	0	3	0	3	3	3	5	3	3	1	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:36362551G>A	ENST00000221891.4	+	5	767	c.575G>A	c.(574-576)gGc>gAc	p.G192D	APLP1_ENST00000537454.2_Missense_Mutation_p.G153D|NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000586861.1_Missense_Mutation_p.G186D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	192					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACGGCTCGGGCATGCTCTTA	0.637																																																	0													107	102	103					19																	36362551		2203	4300	6503	SO:0001583	missense	0			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.575G>A	19.37:g.36362551G>A	ENSP00000221891:p.Gly192Asp		O00113|Q96A92	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.G192D	ENST00000221891.4	37	c.575	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874653	0.72180	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.95518	-3.59;-3.73	4.41	4.41	0.53225	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, copper-binding (3);	0.000000	0.47093	D	0.000255	D	0.97377	0.9142	M	0.78637	2.42	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98095	1.0411	10	0.87932	D	0	-18.2646	14.4685	0.67499	0.0:0.0:1.0:0.0	.	186;153;192;192	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	D	153;192	ENSP00000441501:G153D;ENSP00000221891:G192D	ENSP00000221891:G192D	G	+	2	0	APLP1	41054391	1.000000	0.71417	0.839000	0.33178	0.546000	0.35178	8.716000	0.91420	2.006000	0.58801	0.462000	0.41574	GGC	APLP1	-	pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra	ENSG00000105290		0.637	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1		0	22	0	G	NM_001024807		36362551	1			no_errors	ENST00000221891	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	A	A	36362551	G	A	36362551	3	1	175	1	0	0	0	0	1	0	0	0	778	1203	42	3	593	3	APLP1	19	36362551	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	150136	36362551	22766432	126	43884											
SPTBN4	57731	genome.wustl.edu	37	chr19	41019376	41019376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggcgaggtgcacgcgtgtGagctgtggatcggcgagaag	7	8	19	7	5	0	2	0	1	0	1	1	5	0	3	0	4	2	2	0	4	1	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:41019376G>A	ENST00000352632.3	+	14	2766	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	SPTBN4_ENST00000598249.1_Missense_Mutation_p.E894K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E894K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E894K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E894K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	894					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)			GCACGCGTGTGAGCTGTGGAT	0.652																																																	0													35	25	29					19																	41019376		2203	4300	6503	SO:0001583	missense	0			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.2680G>A	19.37:g.41019376G>A	ENSP00000263373:p.Glu894Lys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E894K	ENST00000352632.3	37	c.2680	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499686	0.64298	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.54279	0.58;0.58;0.58	3.28	2.22	0.28083	.	0.257659	0.24710	U	0.036221	T	0.61261	0.2333	M	0.76727	2.345	0.80722	D	1	D;P	0.57257	0.979;0.866	P;B	0.54759	0.76;0.41	T	0.61148	-0.7121	10	0.42905	T	0.14	.	9.6966	0.40161	0.1107:0.0:0.8893:0.0	.	894;894	Q9H254;Q71S06	SPTN4_HUMAN;.	K	894	ENSP00000263373:E894K;ENSP00000340345:E894K;ENSP00000340741:E894K	ENSP00000340345:E894K	E	+	1	0	SPTBN4	45711216	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	3.677000	0.54619	0.716000	0.32124	0.313000	0.20887	GAG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.652	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2		0	11	0	G			41019376	1			no_errors	ENST00000352632	ensembl	human	known	74_37	missense	29.41	12	5	SNP	1.000	A	A	41019376	G	A	41019376	3	1	175	1	0	0	0	0	1	0	0	0	15168	1291	45	3	2730	3	SPTBN4	19	41019376	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	4656825	41019376	18109607	127	43885											
KLK5	25818	genome.wustl.edu	37	chr19	51451943	51451943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accggcgcagaacatggtgtCatctatctgtctcgggtaag	9	10	12	10	3	4	1	1	0	3	1	5	1	4	1	1	3	1	2	1	3	3	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:51451943C>T	ENST00000336334.3	-	5	1031	c.679G>A	c.(679-681)Gac>Aac	p.D227N	CTB-147C22.8_ENST00000594939.1_RNA|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Missense_Mutation_p.D227N|KLK5_ENST00000391809.2_Missense_Mutation_p.D227N	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	227	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AACATGGTGTCATCTATCTGT	0.502																																																	0													168	132	144					19																	51451943		2203	4300	6503	SO:0001583	missense	0			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.679G>A	19.37:g.51451943C>T	ENSP00000337733:p.Asp227Asn		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.D227N	ENST00000336334.3	37	c.679	CCDS12810.1	19	.	.	.	.	.	.	.	.	.	.	c	3.583	-0.085189	0.07097	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.93488	-3.23;-3.23	4.67	-9.34	0.00636	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	3.146950	0.01443	N	0.015199	D	0.84338	0.5450	L	0.35249	1.045	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.72114	-0.4388	10	0.19147	T	0.46	.	0.4833	0.00552	0.2897:0.1566:0.2772:0.2765	.	227	Q9Y337	KLK5_HUMAN	N	227	ENSP00000337733:D227N;ENSP00000375685:D227N	ENSP00000337733:D227N	D	-	1	0	KLK5	56143755	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-4.114000	0.00292	-4.354000	0.00054	-0.910000	0.02820	GAC	KLK5	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167754		0.502	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK5	HGNC	protein_coding	OTTHUMT00000465057.1	-	0	22	0	C	NM_012427		51451943	-1	tier1	-	no_errors	ENST00000336334	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.000	T	T	51451943	C	T	51451943	3	4	175	1	0	0	0	0	1	0	0	0	8434	826	29	3	210	3	KLK5	19	51451943	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	10432567	51451943	7677040	128	43886											
PPP2R1A	5518	genome.wustl.edu	37	chr19	52724234	52724234	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctcacccttctgcagtaTatgccatccgcgaggcagcc	8	8	8	17	2	2	0	1	0	1	0	3	1	3	0	5	1	3	3	5	1	2	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:52724234T>C	ENST00000322088.6	+	12	1424	c.1366T>C	c.(1366-1368)Tat>Cat	p.Y456H	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Y277H|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Y401H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	456	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TTCTGCAGTATATGCCATCCG	0.532			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	0													88	83	85					19																	52724234		2203	4300	6503	SO:0001583	missense	0				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1366T>C	19.37:g.52724234T>C	ENSP00000324804:p.Tyr456His		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.Y456H	ENST00000322088.6	37	c.1366	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106363	0.77096	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16597	2.33;2.33	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.51477	D	0.000091	T	0.34978	0.0916	M	0.84219	2.685	0.58432	D	0.999999	P;B	0.42375	0.778;0.029	P;B	0.50659	0.647;0.091	T	0.17930	-1.0353	10	0.54805	T	0.06	-13.6035	12.1013	0.53785	0.0:0.0:0.0:1.0	.	401;456	F5H3X9;P30153	.;2AAA_HUMAN	H	446;376;456;401	ENSP00000324804:Y456H;ENSP00000415067:Y401H	ENSP00000324804:Y456H	Y	+	1	0	PPP2R1A	57416046	1.000000	0.71417	0.996000	0.52242	0.799000	0.45148	7.226000	0.78060	2.026000	0.59711	0.533000	0.62120	TAT	PPP2R1A	-	superfamily_ARM-type_fold	ENSG00000105568		0.532	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	-	0	34	0	T	NM_014225		52724234	1	tier1	-	no_errors	ENST00000322088	ensembl	human	known	74_37	missense	40.54	22	15	SNP	1.000	C	C	52724234	T	C	52724234	3	2	175	1	0	0	0	0	1	0	0	0	12424	1406	49	4	1412	4	PPP2R1A	19	52724234	Missense_Mutation	SNP	T	TCGA-VR-AA7D-01A-11D-A403-09	1272291	52724234	6404749	129	43887											
ZNF766	90321	genome.wustl.edu	37	chr19	52794236	52794236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcactcaagtttcacatCttgcacgacatcagaaaatt	13	13	4	11	1	6	1	4	0	2	1	6	2	6	1	0	0	1	2	0	0	3	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:52794236C>A	ENST00000439461.1	+	4	1235	c.1192C>A	c.(1192-1194)Ctt>Att	p.L398I	ZNF766_ENST00000593612.1_Missense_Mutation_p.L413I|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Missense_Mutation_p.L413I|CTD-2525I3.5_ENST00000594865.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	398					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(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		AGTTTCACATCTTGCACGACA	0.393																																																	0													53	57	56					19																	52794236		2203	4300	6503	SO:0001583	missense	0			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"Zinc fingers, C2H2-type", "-"	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.1192C>A	19.37:g.52794236C>A	ENSP00000409652:p.Leu398Ile		B2RNE0|Q7Z326	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L413I	ENST00000439461.1	37	c.1237	CCDS46163.1	19	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767880	0.31320	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	T;T	0.53857	0.6;0.6	2.24	-0.249	0.13011	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67316	0.2880	M	0.89414	3.03	0.09310	N	1	P;P	0.40931	0.688;0.733	P;P	0.55824	0.607;0.785	T	0.59752	-0.7395	9	0.72032	D	0.01	.	3.2744	0.06893	0.2067:0.529:0.0:0.2643	.	413;398	G3XAE0;Q5HY98	.;ZN766_HUMAN	I	398;413	ENSP00000409652:L398I;ENSP00000352005:L413I	ENSP00000352005:L413I	L	+	1	0	ZNF766	57486048	0.573000	0.26676	0.000000	0.03702	0.001000	0.01503	1.101000	0.31037	-0.129000	0.11620	-0.142000	0.14014	CTT	ZNF766	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196214		0.393	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF766	HGNC	protein_coding	OTTHUMT00000462764.1	-	0	64	0	C	NM_001010851		52794236	1	tier1	-	no_errors	ENST00000359102	ensembl	human	known	74_37	missense	28.05	59	23	SNP	0.004	A	A	52794236	C	A	52794236	3	1	175	1	0	0	0	0	1	0	0	0	18188	913	32	3	1206	3	ZNF766	19	52794236	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	70002	52794236	6334747	130	43888											
CNOT3	4849	genome.wustl.edu	37	chr19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcctcaagaaggtgtccGagggcgtggagcagtttgaa	9	8	16	8	2	1	2	1	1	0	1	2	4	2	3	2	3	2	3	2	3	3	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					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)		p.E20K(6)		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)					GAAGGTGTCCGAGGGCGTGGA	0.557																																																	6	Substitution - Missense(6)	prostate(4)|urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)											171	172	171					19																	54646887		2203	4300	6503	SO:0001583	missense	0			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.58G>A	19.37:g.54646887G>A	ENSP00000383954:p.Glu20Lys		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.E20K	ENST00000406403.1	37	c.58	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.507003	0.96386	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.72725	-0.68;-0.68	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.993	D	0.88178	0.2869	10	0.87932	D	0	-31.302	17.5375	0.87837	0.0:0.0:1.0:0.0	.	20;20	B7Z6J7;O75175	.;CNOT3_HUMAN	K	20	ENSP00000221232:E20K;ENSP00000383954:E20K	ENSP00000221232:E20K	E	+	1	0	CNOT3	59338699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.832000	0.92079	2.512000	0.84698	0.655000	0.94253	GAG	CNOT3	-	pfam_Not_N,pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3		0	15	0	G	NM_014516		54646887	1			no_errors	ENST00000221232	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	A	A	54646887	G	A	54646887	3	1	175	1	0	0	0	0	1	0	0	0	3627	1059	37	1	64	1	CNOT3	19	54646887	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	1852651	54646887	4482096	131	43889											
EPN1	29924	genome.wustl.edu	37	chr19	56200328	56200328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagctgcagctccagctgGccctggccatgagcaaggag	9	5	15	12	0	0	1	0	1	0	0	1	3	1	3	3	4	5	5	3	4	1	0			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:56200328G>A	ENST00000270460.6	+	4	882	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	EPN1_ENST00000085079.7_Missense_Mutation_p.A191T|EPN1_ENST00000591743.1_3'UTR|EPN1_ENST00000411543.2_Missense_Mutation_p.A302T	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	191					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GCTCCAGCTGGCCCTGGCCAT	0.716																																																	0													13	16	15					19																	56200328		2119	4242	6361	SO:0001583	missense	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.571G>A	19.37:g.56200328G>A	ENSP00000270460:p.Ala191Thr		Q86ST3|Q9HA18	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.A302T	ENST00000270460.6	37	c.904	CCDS46199.1	19	.	.	.	.	.	.	.	.	.	.	G	18.91	3.722784	0.68959	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.58506	2.04;0.81;0.33	4.0	4.0	0.46444	Ubiquitin interacting motif (3);	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;0.996	T	0.78785	-0.2068	10	0.54805	T	0.06	-19.0362	15.3854	0.74695	0.0:0.0:1.0:0.0	.	152;302;191;191	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	T	191;191;152;302	ENSP00000270460:A191T;ENSP00000085079:A191T;ENSP00000406209:A302T	ENSP00000085079:A191T	A	+	1	0	EPN1	60892140	1.000000	0.71417	0.998000	0.56505	0.579000	0.36224	7.340000	0.79292	2.244000	0.73946	0.462000	0.41574	GCC	EPN1	-	smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif	ENSG00000063245		0.716	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	-	0	25	0	G	NM_013333		56200328	1	tier1	-	no_errors	ENST00000411543	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	A	A	56200328	G	A	56200328	3	1	175	1	0	0	0	0	1	0	0	0	5201	1203	42	3	922	3	EPN1	19	56200328	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	1553441	56200328	2928655	132	43890											
GALP	85569	genome.wustl.edu	37	chr19	56694564	56694564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatgtgatggagacgtttgCcaaaccagagattggaggta	13	9	14	5	1	0	3	0	1	0	2	0	7	0	4	2	3	2	2	2	3	3	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr19:56694564C>T	ENST00000357330.2	+	5	360	c.278C>T	c.(277-279)gCc>gTc	p.A93V	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	93					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)		GAGACGTTTGCCAAACCAGAG	0.512																																																	0													102	95	97					19																	56694564		2203	4300	6503	SO:0001583	missense	0			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.278C>T	19.37:g.56694564C>T	ENSP00000349884:p.Ala93Val		A1KXL3	Missense_Mutation	SNP	pfam_Galanin	p.A93V	ENST00000357330.2	37	c.278	CCDS12940.1	19	.	.	.	.	.	.	.	.	.	.	C	9.527	1.109776	0.20714	.	.	ENSG00000197487	ENST00000357330	T	0.42131	0.98	2.07	1.02	0.19986	.	.	.	.	.	T	0.16938	0.0407	N	0.12746	0.255	0.09310	N	0.999998	B	0.27997	0.197	B	0.15870	0.014	T	0.20974	-1.0259	9	0.09843	T	0.71	-1.7366	3.8119	0.08801	0.0:0.7662:0.0:0.2338	.	93	Q9UBC7	GALP_HUMAN	V	93	ENSP00000349884:A93V	ENSP00000349884:A93V	A	+	2	0	GALP	61386376	0.000000	0.05858	0.007000	0.13788	0.026000	0.11368	0.293000	0.19029	0.406000	0.25560	0.591000	0.81541	GCC	GALP	-	NULL	ENSG00000197487		0.512	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GALP	HGNC	protein_coding	OTTHUMT00000457832.1	-	0	71	0	C	NM_033106		56694564	1	tier1	-	no_errors	ENST00000357330	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.021	T	T	56694564	C	T	56694564	3	4	175	1	0	0	0	0	1	0	0	0	6251	739	26	3	292	3	GALP	19	56694564	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	494236	56694564	2434419	133	43891											
PYGB	5834	genome.wustl.edu	37	chr20	25277028	25277028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccaaggagtggaccaagaAggtcatcaggaacatcgcct	13	5	11	12	1	2	1	2	0	0	1	3	4	2	4	4	4	1	0	4	4	4	0			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr20:25277028A>G	ENST00000216962.4	+	20	2512	c.2402A>G	c.(2401-2403)aAg>aGg	p.K801R	PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	801					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TGGACCAAGAAGGTCATCAGG	0.557																																																	0													95	78	83					20																	25277028		2203	4300	6503	SO:0001583	missense	0				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2402A>G	20.37:g.25277028A>G	ENSP00000216962:p.Lys801Arg		Q96AK1|Q9NPX8	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.K801R	ENST00000216962.4	37	c.2402	CCDS13171.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.64|13.64	2.298336|2.298336	0.40694|0.40694	.|.	.|.	ENSG00000100994|ENSG00000100994	ENST00000216962|ENST00000428458	D|.	0.93307|.	-3.2|.	4.66|4.66	3.54|3.54	0.40534|0.40534	.|.	0.111267|.	0.64402|.	D|.	0.000012|.	T|T	0.58807|0.58807	0.2148|0.2148	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	B|.	0.12630|.	0.006|.	B|.	0.15052|.	0.012|.	T|T	0.54377|0.54377	-0.8303|-0.8303	10|5	0.29301|.	T|.	0.29|.	-45.2731|-45.2731	10.5922|10.5922	0.45316|0.45316	0.8555:0.0:0.0:0.1445|0.8555:0.0:0.0:0.1445	.|.	801|.	P11216|.	PYGB_HUMAN|.	R|G	801|220	ENSP00000216962:K801R|.	ENSP00000216962:K801R|.	K|R	+|+	2|1	0|2	PYGB|PYGB	25225028|25225028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.477000|4.477000	0.60223|0.60223	0.892000|0.892000	0.36259|0.36259	0.459000|0.459000	0.35465|0.35465	AAG|AGG	PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100994		0.557	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	-	0	67	0	A	NM_002862		25277028	1	tier1	-	no_errors	ENST00000216962	ensembl	human	known	74_37	missense	22.83	71	21	SNP	1.000	G	G	25277028	A	G	25277028	3	3	175	1	0	0	0	0	1	0	0	0	12905	72	3	4	2480	4	PYGB	20	25277028	Missense_Mutation	SNP	A	TCGA-VR-AA7D-01A-11D-A403-09		25277028	37748492	134	43892											
MYH7B	57644	genome.wustl.edu	37	chr20	33568835	33568835	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccccttccctttcctccaGaccgagacaaccagtccatg	9	9	5	18	1	0	2	0	0	0	2	5	3	5	2	8	0	1	0	8	0	1	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr20:33568835G>C	ENST00000262873.7	+	7	717		c.e7-1		MYH7B_ENST00000481922.1_Splice_Site	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta							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)			CTTTCCTCCAGACCGAGACAA	0.602																																																	0													96	96	96					20																	33568835		2002	4197	6199	SO:0001630	splice_region_variant	0			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.626-1G>C	20.37:g.33568835G>C			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Splice_Site	SNP	-	NULL	ENST00000262873.7	37	c.NULL	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094784	0.76870	.	.	ENSG00000078814	ENST00000262873	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6555	0.85227	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYH7B	33032496	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.806000	0.86020	2.463000	0.83235	0.643000	0.83706	.	MYH7B	-	-	ENSG00000078814		0.602	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	-	0	50	0	G	NM_020884	Intron	33568835	1	tier1	-	no_errors	ENST00000481922	ensembl	human	known	74_37	splice_site	20.29	55	14	SNP	1.000	C	C	33568835	G	C	33568835	5	2	175	1	0	0	0	0	0	0	1	0	10078	956	33	5	651	5	MYH7B	20	33568835	Splice_Site	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	8291807	33568835	29456685	135	43893											
ZNFX1	57169	genome.wustl.edu	37	chr20	47866096	47866096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggtataggtagtgaggatGgtgatctgggaaggcaggta	10	9	18	4	1	1	2	0	2	1	0	1	4	1	4	1	7	0	4	1	7	5	4			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr20:47866096G>A	ENST00000396105.1	-	14	3711	c.3465C>T	c.(3463-3465)acC>acT	p.T1155T	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Silent_p.T1155T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1155							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)			TAGTGAGGATGGTGATCTGGG	0.527																																																	0													134	127	130					20																	47866096		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3465C>T	20.37:g.47866096G>A			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1	p.T1155	ENST00000396105.1	37	c.3465	CCDS13417.1	20																																																																																			ZNFX1	-	superfamily_P-loop_NTPase	ENSG00000124201		0.527	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	-	0	32	0	G	NM_021035		47866096	-1	tier1	-	no_errors	ENST00000371752	ensembl	human	known	74_37	silent	30.91	38	17	SNP	1.000	A	A	47866096	G	A	47866096	2	1	175	1	0	0	0	0	0	0	0	1	18253	1335	47	3		3	ZNFX1	20	47866096	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	14297261	47866096	15159424	136	43894											
AURKA	6790	genome.wustl.edu	37	chr20	54959346	54959346	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttgattcttcatttttCtgttttgatgccagttcctc	4	24	5	8	0	3	2	1	2	2	0	5	2	4	2	2	0	1	2	2	0	0	10			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr20:54959346C>T	ENST00000347343.2	-	4	621	c.354G>A	c.(352-354)caG>caA	p.Q118Q	AURKA_ENST00000395907.1_Silent_p.Q118Q|AURKA_ENST00000395909.4_Silent_p.Q118Q|AURKA_ENST00000395915.3_Silent_p.Q118Q|AURKA_ENST00000312783.6_Silent_p.Q118Q|AURKA_ENST00000395914.1_Silent_p.Q118Q|AURKA_ENST00000395911.1_Silent_p.Q118Q|AURKA_ENST00000371356.2_Silent_p.Q118Q|AURKA_ENST00000395913.3_Silent_p.Q118Q	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	118					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			CTTCATTTTTCTGTTTTGATG	0.299																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)												0													61	64	63					20																	54959346		2203	4292	6495	SO:0001819	synonymous_variant	0			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11393	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 47", "Aurora-A kinase"	603072	"serine/threonine kinase 15", " serine/threonine kinase 6"	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.354G>A	20.37:g.54959346C>T			E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q118	ENST00000347343.2	37	c.354	CCDS13451.1	20																																																																																			AURKA	-	NULL	ENSG00000087586		0.299	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKA	HGNC	protein_coding	OTTHUMT00000079804.3	-	0	67	0	C	NM_003600		54959346	-1	tier1	-	no_errors	ENST00000312783	ensembl	human	known	74_37	silent	19.42	83	20	SNP	0.997	T	T	54959346	C	T	54959346	2	4	175	1	0	0	0	0	0	0	0	1	1222	912	32	3		3	AURKA	20	54959346	Silent	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	7093250	54959346	8066174	137	43895											
GNAS	2778	genome.wustl.edu	37	chr20	57484444	57484444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgacttctggaatctttGagaccaagttccaggtggac	9	12	10	10	0	2	2	0	2	2	1	4	5	4	4	3	3	0	1	3	3	2	3			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr20:57484444G>C	ENST00000371085.3	+	8	1049	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	GNAS_ENST00000306090.10_Missense_Mutation_p.E195Q|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.E838Q|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.E852Q|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.E194Q|GNAS_ENST00000354359.7_Missense_Mutation_p.E210Q|GNAS_ENST00000371095.3_Missense_Mutation_p.E195Q	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	209					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGAATCTTTGAGACCAAGTT	0.443			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													82	80	81					20																	57484444		2203	4300	6503	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.625G>C	20.37:g.57484444G>C	ENSP00000360126:p.Glu209Gln		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.E210Q	ENST00000371085.3	37	c.628	CCDS13472.1	20	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862944	0.91511	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.96664	0.8911	M	0.87900	2.915	0.80722	D	1	P;D;D;D	0.89917	0.8;0.98;0.975;1.0	P;P;P;D	0.79784	0.646;0.826;0.599;0.993	D	0.97050	0.9763	10	0.72032	D	0.01	.	19.1809	0.93623	0.0:0.0:1.0:0.0	.	209;210;194;852	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	Q	852;838;195;209;210;194;195	ENSP00000360141:E852Q;ENSP00000360143:E838Q;ENSP00000360136:E195Q;ENSP00000360126:E209Q;ENSP00000346328:E210Q;ENSP00000265620:E194Q;ENSP00000304472:E195Q	ENSP00000265620:E194Q	E	+	1	0	GNAS	56917839	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.291000	0.96070	2.532000	0.85374	0.467000	0.42956	GAG	GNAS	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000087460		0.443	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	-	0	88	0	G	NM_000516		57484444	1	tier1	-	no_errors	ENST00000354359	ensembl	human	known	74_37	missense	26.32	84	30	SNP	1.000	C	C	57484444	G	C	57484444	3	2	175	1	0	0	0	0	1	0	0	0	6536	1291	45	5	3472	5	GNAS	20	57484444	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	2525098	57484444	5541076	138	43896											
LAMA5	3911	genome.wustl.edu	37	chr20	60912751	60912751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actccgggggtcacaggctgCgtgcagggagccttcagcag	7	6	16	12	2	2	0	2	0	0	0	3	1	3	1	2	4	4	3	2	4	0	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr20:60912751C>T	ENST00000252999.3	-	16	2125	c.2059G>A	c.(2059-2061)Gca>Aca	p.A687T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	687	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			TCACAGGCTGCGTGCAGGGAG	0.657																																																	0													31	31	31					20																	60912751		2201	4296	6497	SO:0001583	missense	0			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.2059G>A	20.37:g.60912751C>T	ENSP00000252999:p.Ala687Thr		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.A687T	ENST00000252999.3	37	c.2059	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	C	0.101	-1.152404	0.01700	.	.	ENSG00000130702	ENST00000252999	T	0.61627	0.09	4.89	-6.4	0.01944	EGF-like, laminin (3);	0.733633	0.12708	N	0.445819	T	0.23210	0.0561	N	0.05330	-0.07	0.09310	N	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.36456	-0.9747	10	0.02654	T	1	.	6.7021	0.23230	0.2046:0.2435:0.0:0.5519	.	687	O15230	LAMA5_HUMAN	T	687	ENSP00000252999:A687T	ENSP00000252999:A687T	A	-	1	0	LAMA5	60346146	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.856000	0.00729	-1.353000	0.02191	-0.188000	0.12872	GCA	LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	ENSG00000130702		0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	41	0	C	NM_005560		60912751	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	12.50	35	5	SNP	0.000	T	T	60912751	C	T	60912751	3	4	175	1	0	0	0	0	1	0	0	0	8637	768	27	1	9288	1	LAMA5	20	60912751	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	3428307	60912751	2112769	139	43897											
IFNGR2	3460	genome.wustl.edu	37	chr21	34787211	34787211	+	Silent	SNP	G	G	T	0	0	1	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	caagaccctctttcccagctGcccgctcctcagcacccgaa	8	7	6	20	2	2	1	1	0	1	1	4	2	4	1	5	0	3	3	5	0	2	1	rs546201964	byFrequency	TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr21:34787211G>T	ENST00000290219.6	+	2	738	c.90G>T	c.(88-90)ctG>ctT	p.L30L	IFNGR2_ENST00000381995.1_Silent_p.L49L|IFNGR2_ENST00000405436.1_5'UTR	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	30					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TTTCCCAGCTGCCCGCTCCTC	0.527																																																	0													50	50	50					21																	34787211		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.90G>T	21.37:g.34787211G>T			Q9BTL5	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.L30	ENST00000290219.6	37	c.90	CCDS33544.1	21																																																																																			IFNGR2	-	superfamily_Fibronectin_type3	ENSG00000159128		0.527	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR2	HGNC	protein_coding	OTTHUMT00000139916.1	-	0	40	0	G			34787211	1	tier1	-	no_errors	ENST00000290219	ensembl	human	known	74_37	silent	51.85	13	14	SNP	0.994	T	T	34787211	G	T	34787211	2	4	175	1	0	0	0	0	0	0	0	1	7577	1306	46	3		3	IFNGR2	21	34787211	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		34787211	13342684	140	43898											
SON	6651	genome.wustl.edu	37	chr21	34927209	34927209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgtatcaaaagagaagcGcaaaagatctccaaagcaca	19	6	7	9	1	3	2	1	0	2	2	4	3	3	2	1	0	2	3	1	0	7	1	rs140776794		TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr21:34927209G>T	ENST00000356577.4	+	3	6147	c.5672G>T	c.(5671-5673)cGc>cTc	p.R1891L	SON_ENST00000300278.4_Missense_Mutation_p.R1891L|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.R1891L|SON_ENST00000290239.6_Missense_Mutation_p.R1891L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1891					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						AAAGAGAAGCGCAAAAGATCT	0.458																																																	0													50	48	49					21																	34927209		2203	4300	6503	SO:0001583	missense	0			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.5672G>T	21.37:g.34927209G>T	ENSP00000348984:p.Arg1891Leu		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom	p.R1891L	ENST00000356577.4	37	c.5672	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.60|14.60	2.582946|2.582946	0.46006|0.46006	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.29397	.|1.57;1.57;1.57;1.57	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.50627	.|D	.|0.000102	T|T	0.33876|0.33876	0.0878|0.0878	N|N	0.08118|0.08118	0|0	0.42989|0.42989	D|D	0.994487|0.994487	.|D;D;D;D;D	.|0.69078	.|0.994;0.99;0.994;0.997;0.997	.|D;P;P;D;D	.|0.65443	.|0.914;0.863;0.834;0.935;0.935	T|T	0.40136|0.40136	-0.9579|-0.9579	5|10	.|0.72032	.|D	.|0.01	.|.	14.3213|14.3213	0.66489|0.66489	0.0:0.0:0.8517:0.1482|0.0:0.0:0.8517:0.1482	.|.	.|1891;1891;1572;1891;1891	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	S|L	886|1891	.|ENSP00000348984:R1891L;ENSP00000290239:R1891L;ENSP00000300278:R1891L;ENSP00000371095:R1891L	.|ENSP00000290239:R1891L	A|R	+|+	1|2	0|0	SON|SON	33849079|33849079	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.802000|3.802000	0.55553|0.55553	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GCA|CGC	SON	-	NULL	ENSG00000159140		0.458	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2		0	63	0	G	NM_138927		34927209	1			no_errors	ENST00000356577	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.998	T	T	34927209	G	T	34927209	3	4	175	1	0	0	0	0	1	0	0	0	14971	1087	38	2	5682	2	SON	21	34927209	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	139998	34927209	13202686	141	43899											
IL17RA	23765	genome.wustl.edu	37	chr22	17586491	17586491	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgcagaaccaattccGggtaagcttggatctctctc	9	12	8	12	1	3	1	1	0	2	1	6	2	4	2	2	2	3	3	2	2	3	4	rs41321447	byFrequency	TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr22:17586491G>A	ENST00000319363.6	+	10	1075	c.942G>A	c.(940-942)ccG>ccA	p.P314P		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	314					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)		AACCAATTCCGGGTAAGCTTG	0.522													G|||	10	0.00199681	0.0068	0.0014	5008	,	,		20025	0		0	False		,,,				2504	0																0								G		39,4367	45.3+/-79.5	0,39,2164	200	198	199		942	-0.9	0.1	22	dbSNP_127	199	0,8600		0,0,4300	yes	coding-synonymous-near-splice	IL17RA	NM_014339.5		0,39,6464	AA,AG,GG		0.0,0.8852,0.2999		314/867	17586491	39,12967	2203	4300	6503	SO:0001630	splice_region_variant	0			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.943+1G>A	22.37:g.17586491G>A			O43844|Q20WK1	Silent	SNP	pfam_SEFIR	p.P314	ENST00000319363.6	37	c.942	CCDS13739.1	22																																																																																			IL17RA	-	NULL	ENSG00000177663		0.522	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RA	HGNC	protein_coding	OTTHUMT00000315820.1		0	36	0	G	NM_014339	Silent	17586491	1			no_errors	ENST00000319363	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.289	A	A	17586491	G	A	17586491	5	1	175	1	0	0	0	0	0	0	1	0	7666	1130	39	1	980	1	IL17RA	22	17586491	Splice_Site	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		17586491	33718075	142	43900											
RTN4R	65078	genome.wustl.edu	37	chr22	20230142	20230142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccaggtcgcggaaggtgtCatcaggcagtgcctgcagcg	7	6	16	12	3	2	0	2	0	0	0	3	1	2	1	2	4	3	2	2	4	1	0			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr22:20230142C>T	ENST00000043402.7	-	2	952	c.514G>A	c.(514-516)Gac>Aac	p.D172N	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	172					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					CGGAAGGTGTCATCAGGCAGT	0.692																																																	0													75	64	68					22																	20230142		2203	4300	6503	SO:0001583	missense	0			AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.514G>A	22.37:g.20230142C>T	ENSP00000043402:p.Asp172Asn		D3DX28	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D172N	ENST00000043402.7	37	c.514	CCDS13777.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.31|15.31	2.795922|2.795922	0.50208|0.50208	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000043402|ENST00000416372;ENST00000425986	T|.	0.58210|.	0.35|.	4.1|4.1	3.07|3.07	0.35406|0.35406	.|.	0.205125|.	0.24417|.	N|.	0.038718|.	T|T	0.36635|0.36635	0.0974|0.0974	N|N	0.16066|0.16066	0.365|0.365	0.44880|0.44880	D|D	0.997895|0.997895	B|.	0.09022|.	0.002|.	B|.	0.14578|.	0.011|.	T|T	0.08289|0.08289	-1.0729|-1.0729	10|5	0.51188|.	T|.	0.08|.	.|.	9.0181|9.0181	0.36182|0.36182	0.0:0.8858:0.0:0.1142|0.0:0.8858:0.0:0.1142	.|.	172|.	Q9BZR6|.	RTN4R_HUMAN|.	N|I	172|191;257	ENSP00000043402:D172N|.	ENSP00000043402:D172N|.	D|M	-|-	1|3	0|0	RTN4R|RTN4R	18610142|18610142	0.994000|0.994000	0.37717|0.37717	0.030000|0.030000	0.17652|0.17652	0.929000|0.929000	0.56500|0.56500	3.881000|3.881000	0.56152|0.56152	1.045000|1.045000	0.40225|0.40225	0.561000|0.561000	0.74099|0.74099	GAC|ATG	RTN4R	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000040608		0.692	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4R	HGNC	protein_coding	OTTHUMT00000318950.2		0	30	0	C			20230142	-1			no_errors	ENST00000043402	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.952	T	T	20230142	C	T	20230142	3	4	175	1	0	0	0	0	1	0	0	0	13775	826	29	3	911	3	RTN4R	22	20230142	Missense_Mutation	SNP	C	TCGA-VR-AA7D-01A-11D-A403-09	2643651	20230142	31074424	143	43901											
NEFH	4744	genome.wustl.edu	37	chr22	29879448	29879448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagataactgagtaccggcGtcagctgcaggccaggacca	11	5	14	11	2	1	2	1	1	0	1	1	4	1	3	3	4	4	3	3	4	2	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chr22:29879448G>A	ENST00000310624.6	+	2	1001	c.968G>A	c.(967-969)cGt>cAt	p.R323H		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	323	Coil 2B.|Rod.				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						GAGTACCGGCGTCAGCTGCAG	0.617																																																	0													122	110	114					22																	29879448		2203	4300	6503	SO:0001583	missense	0				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.968G>A	22.37:g.29879448G>A	ENSP00000311997:p.Arg323His		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_IF,pfam_DUF1388	p.R323H	ENST00000310624.6	37	c.968	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918592	0.73098	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.90504	-2.68	5.3	5.3	0.74995	Filament (1);	0.000000	0.49305	D	0.000153	D	0.92341	0.7570	M	0.79011	2.435	0.52099	D	0.999948	D	0.56746	0.977	P	0.51016	0.656	D	0.92289	0.5840	10	0.54805	T	0.06	.	12.4643	0.55749	0.0759:0.0:0.9241:0.0	.	323	P12036	NFH_HUMAN	H	323	ENSP00000311997:R323H	ENSP00000311997:R323H	R	+	2	0	NEFH	28209448	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.509000	0.73725	2.761000	0.94854	0.650000	0.86243	CGT	NEFH	-	pfam_IF	ENSG00000100285		0.617	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	-	0	21	0	G	NM_021076		29879448	1	tier1	-	no_errors	ENST00000310624	ensembl	human	known	74_37	missense	31.25	22	10	SNP	1.000	A	A	29879448	G	A	29879448	3	1	175	1	0	0	0	0	1	0	0	0	10353	1145	40	1	974	1	NEFH	22	29879448	Missense_Mutation	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	9649306	29879448	21425118	144	43902											
DCAF12L1	139170	genome.wustl.edu	37	chrX	125685998	125685998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcactcagccaggcgacggcGaagatccagtccttgtggcc	8	7	12	14	3	2	1	2	0	0	1	4	3	4	1	4	3	1	0	4	3	1	1			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chrX:125685998G>A	ENST00000371126.1	-	1	836	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	198										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGGCGACGGCGAAGATCCAGT	0.667																																																	0													35	37	36					X																	125685998		2203	4298	6501	SO:0001819	synonymous_variant	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.594C>T	X.37:g.125685998G>A			Q8IYK3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F198	ENST00000371126.1	37	c.594	CCDS14610.1	X																																																																																			DCAF12L1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000198889		0.667	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0	46	0	G	NM_178470		125685998	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	silent	66.00	17	33	SNP	0.004	A	A	125685998	G	A	125685998	2	1	175	1	0	0	0	0	0	0	0	1	4273	1049	37	1		1	DCAF12L1	23	125685998	Silent	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09		125685998	29584562	145	43903											
FAM122C	159091	genome.wustl.edu	37	chrX	133938243	133938243	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcatggcatatttccctGgaactggaaggactgatcaa	13	10	10	8	0	2	2	2	1	0	1	3	5	3	5	1	4	1	1	1	4	4	2			TCGA-VR-AA7D-01A-11D-A403-09	TCGA-VR-AA7D-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	26db3638-64d4-4301-b3e0-2b75879facdf	bf56eaf2-cc4f-44bf-aa68-18b6471a9581	g.chrX:133938243G>T	ENST00000370784.4	+	0	0				FAM122C_ENST00000414371.2_Nonsense_Mutation_p.G6*|FAM122C_ENST00000370785.3_5'Flank	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					ATATTTCCCTGGAACTGGAAG	0.413																																																	0													269	210	228					X																	133938243		692	1591	2283	SO:0001631	upstream_gene_variant	0			BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716		X.37:g.133938243G>T	Exception_encountered		F5H036|Q8WVK9	Nonsense_Mutation	SNP	NULL	p.G6*	ENST00000370784.4	37	c.16	CCDS55501.1	X	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381735	0.61845	.	.	ENSG00000156500	ENST00000414371	.	.	.	3.86	0.00172	0.14047	.	.	.	.	.	.	.	.	.	.	.	0.20074	N	0.999935	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	2.8138	0.05450	0.3706:0.0:0.425:0.2044	.	.	.	.	X	6	.	ENSP00000402477:G6X	G	+	1	0	FAM122C	133765909	0.021000	0.18746	0.014000	0.15608	0.004000	0.04260	0.550000	0.23345	-0.141000	0.11374	-0.213000	0.12676	GGA	FAM122C	-	NULL	ENSG00000156500		0.413	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM122C	HGNC	protein_coding		-	0	44	0	G	NM_138819		133938243	1	tier1	-	no_errors	ENST00000414371	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	0.013	T	T	133938243	G	T	133938243	1	4	175	0	1	0	0	0	0	0	0	0	5440	1349	47	3		3	FAM122C	23	133938243	5'Flank	SNP	G	TCGA-VR-AA7D-01A-11D-A403-09	8252245	133938243	21332317	146	43904											
ZMYND12	84217	genome.wustl.edu	37	chr1	42921632	42921632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcacagcagagtctgcGccccttggggactgccagtg	7	7	12	15	1	2	1	1	0	1	1	2	2	2	2	4	2	3	1	4	2	0	1			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:42921632G>A	ENST00000372565.3	-	1	306	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	PPCS_ENST00000372560.3_5'Flank|PPCS_ENST00000372562.1_5'Flank|PPCS_ENST00000372556.3_5'Flank|PPCS_ENST00000372561.3_5'Flank|ZMYND12_ENST00000433602.2_5'UTR|PPCS_ENST00000455780.1_5'Flank	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	13						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGAGTCTGCGCCCCTTGGGG	0.622																																																	0													54	48	50					1																	42921632		2203	4300	6503	SO:0001583	missense	0			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.37C>T	1.37:g.42921632G>A	ENSP00000361646:p.Arg13Cys		Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.R13C	ENST00000372565.3	37	c.37	CCDS467.1	1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713009	0.68730	.	.	ENSG00000066185	ENST00000372565	T	0.46819	0.86	5.04	5.04	0.67666	.	0.207898	0.41823	D	0.000808	T	0.60753	0.2293	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.60010	-0.7346	10	0.48119	T	0.1	-12.7733	11.572	0.50839	0.0:0.18:0.82:0.0	.	13	Q9H0C1	ZMY12_HUMAN	C	13	ENSP00000361646:R13C	ENSP00000361646:R13C	R	-	1	0	ZMYND12	42694219	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	3.432000	0.52824	2.612000	0.88384	0.563000	0.77884	CGC	ZMYND12	-	NULL	ENSG00000066185		0.622	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND12	HGNC	protein_coding	OTTHUMT00000019170.1	-	0	12	0	G	NM_032257		42921632	-1	tier1	-	no_errors	ENST00000372565	ensembl	human	known	74_37	missense	31.25	22	10	SNP	1.000	A	A	42921632	G	A	42921632	3	1	176	1	0	0	0	0	1	0	0	0	17755	1087	38	1	1092	1	ZMYND12	1	42921632	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		42921632	206328989	1	43905											
CCDC30	728621	genome.wustl.edu	37	chr1	43111845	43111845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaaatggtggcatagaGgcaagctggcttctctccct	9	11	10	11	0	1	1	0	0	1	1	4	1	3	1	2	4	1	4	2	4	4	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:43111845G>T	ENST00000340612.4	+	13	1930	c.1930G>T	c.(1930-1932)Ggc>Tgc	p.G644C	CCDC30_ENST00000342022.4_Missense_Mutation_p.G644C|CCDC30_ENST00000507855.1_Missense_Mutation_p.G433C|CCDC30_ENST00000390640.4_Missense_Mutation_p.G433C|CCDC30_ENST00000428554.2_Missense_Mutation_p.G644C			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	644						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						gtggcatagaggcaagctggc	0.383																																																	0													41	39	39					1																	43111845		2200	4296	6496	SO:0001583	missense	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1930G>T	1.37:g.43111845G>T	ENSP00000340378:p.Gly644Cys		Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.G644C	ENST00000340612.4	37	c.1930	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433227	0.25813	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	0.427	0.427	0.16489	.	0.748436	0.10001	U	0.728411	T	0.50377	0.1612	L	0.36672	1.1	0.22305	N	0.999213	D;D	0.71674	0.998;0.978	P;B	0.59948	0.866;0.373	T	0.39981	-0.9587	9	0.56958	D	0.05	.	.	.	.	.	644;433	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	C	644;433;644;644;433	ENSP00000397035:G644C;ENSP00000426711:G433C;ENSP00000340378:G644C;ENSP00000339280:G644C;ENSP00000375051:G433C	ENSP00000340378:G644C	G	+	1	0	CCDC30	42884432	0.134000	0.22483	0.663000	0.29738	0.723000	0.41478	0.648000	0.24828	0.458000	0.26988	0.467000	0.42956	GGC	CCDC30	-	NULL	ENSG00000186409		0.383	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3	-	0	46	0	G	NM_025030		43111845	1	tier1	-	no_errors	ENST00000340612	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.743	T	T	43111845	G	T	43111845	3	4	176	1	0	0	0	0	1	0	0	0	2812	1000	35	3	1980	3	CCDC30	1	43111845	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	190213	43111845	206138776	2	43906											
USP24	23358	genome.wustl.edu	37	chr1	55595244	55595244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcatgagtttggagcttaGaacctagggaacagataagc	13	9	13	6	0	0	3	0	1	0	2	0	5	0	5	1	3	4	3	1	3	5	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:55595244G>A	ENST00000294383.6	-	32	3540	c.3541C>T	c.(3541-3543)Cta>Tta	p.L1181L	USP24_ENST00000407756.1_Silent_p.L1021L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1181					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						TTGGAGCTTAGAACCTAGGGA	0.403																																																	0													93	91	91					1																	55595244		1909	4128	6037	SO:0001819	synonymous_variant	0			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.3541C>T	1.37:g.55595244G>A			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.L1021	ENST00000294383.6	37	c.3061	CCDS44154.2	1																																																																																			USP24	-	NULL	ENSG00000162402		0.403	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0	38	0	G			55595244	-1	tier1	-	no_errors	ENST00000407756	ensembl	human	known	74_37	silent	14.81	46	8	SNP	0.996	A	A	55595244	G	A	55595244	2	1	176	1	0	0	0	0	0	0	0	1	17104	933	33	3		3	USP24	1	55595244	Silent	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	12483399	55595244	193655377	3	43907											
MCOLN3	55283	genome.wustl.edu	37	chr1	85499887	85499887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagattgcttggtacctttGttctcataagcatgattccc	8	15	8	10	0	1	2	1	1	1	1	3	2	2	2	2	1	3	5	2	1	2	7			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:85499887G>T	ENST00000370589.2	-	4	496	c.444C>A	c.(442-444)aaC>aaA	p.N148K	MCOLN3_ENST00000370587.1_Missense_Mutation_p.N148K|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.N92K	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	148					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)		TGGTACCTTTGTTCTCATAAG	0.438																																																	0													150	128	136					1																	85499887		2203	4300	6503	SO:0001583	missense	0			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.444C>A	1.37:g.85499887G>T	ENSP00000359621:p.Asn148Lys		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.N148K	ENST00000370589.2	37	c.444	CCDS701.1	1	.	.	.	.	.	.	.	.	.	.	G	0.770	-0.766088	0.02974	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.52983	0.64;0.64;0.64	5.86	2.33	0.28932	.	0.437791	0.27558	N	0.018829	T	0.08935	0.0221	N	0.24115	0.695	0.31683	N	0.642887	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.26849	-1.0091	10	0.06236	T	0.91	.	5.5759	0.17222	0.2943:0.2264:0.4793:0.0	.	148;92;148	B1ANB7;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	K	148;148;92;92;148	ENSP00000359621:N148K;ENSP00000342698:N92K;ENSP00000359619:N148K	ENSP00000304843:N148K	N	-	3	2	MCOLN3	85272475	0.818000	0.29161	0.468000	0.27192	0.377000	0.30045	0.435000	0.21510	0.594000	0.29761	0.655000	0.94253	AAC	MCOLN3	-	NULL	ENSG00000055732		0.438	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	-	0	32	0	G	NM_018298		85499887	-1	tier1	-	no_errors	ENST00000370589	ensembl	human	known	74_37	missense	18.18	63	14	SNP	0.991	T	T	85499887	G	T	85499887	3	4	176	1	0	0	0	0	1	0	0	0	9435	1368	48	3	1257	3	MCOLN3	1	85499887	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	29904643	85499887	163750734	4	43908											
CLCA2	9635	genome.wustl.edu	37	chr1	86900239	86900239	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaagtacccacaaccaagaAgcaccaaacctacagaacca	19	2	5	15	0	0	2	0	0	0	2	0	2	0	2	5	0	6	3	5	0	8	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:86900239A>C	ENST00000370565.4	+	6	945	c.783A>C	c.(781-783)gaA>gaC	p.E261D		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	261					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACAACCAAGAAGCACCAAACC	0.433																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													137	125	129					1																	86900239		2203	4300	6503	SO:0001583	missense	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.783A>C	1.37:g.86900239A>C	ENSP00000359596:p.Glu261Asp		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.E261D	ENST00000370565.4	37	c.783	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.949650	0.73787	.	.	ENSG00000137975	ENST00000370565	T	0.19806	2.12	6.17	2.34	0.29019	Chloride channel calcium-activated (1);	0.118324	0.56097	D	0.000030	T	0.08492	0.0211	M	0.66378	2.025	0.36945	D	0.892588	B	0.24258	0.1	B	0.28916	0.096	T	0.07809	-1.0753	10	0.41790	T	0.15	-21.0016	1.5412	0.02556	0.5334:0.1349:0.202:0.1297	.	261	Q9UQC9	CLCA2_HUMAN	D	261	ENSP00000359596:E261D	ENSP00000359596:E261D	E	+	3	2	CLCA2	86672827	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.370000	0.20433	0.521000	0.28445	0.533000	0.62120	GAA	CLCA2	-	pfam_Cl_channel_Ca,tigrfam_CaCC_prot	ENSG00000137975		0.433	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	-	0	23	0	A	NM_006536		86900239	1	tier1	-	no_errors	ENST00000370565	ensembl	human	known	74_37	missense	33.33	38	19	SNP	1.000	C	C	86900239	A	C	86900239	3	2	176	1	0	0	0	0	1	0	0	0	3465	69	3	4	805	4	CLCA2	1	86900239	Missense_Mutation	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	1400352	86900239	162350382	5	43909											
AMY1A	277	genome.wustl.edu	37	chr1	104234015	104234015	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaactgccattttgtacagCctgaaagttacataattata	14	13	5	9	0	0	1	0	1	0	0	0	1	0	1	3	0	5	2	3	0	7	7			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:104234015C>T	ENST00000330330.5	-	8	1296	c.1002G>A	c.(1000-1002)agG>agA	p.R334R	AMY1B_ENST00000464691.1_5'Flank|AMY1B_ENST00000370080.3_Splice_Site_p.R334R	NM_001008218.1	NP_001008219.1	P04745	AMY1_HUMAN	amylase, alpha 1B (salivary)	334					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TTTTGTACAGCCTGAAAGTTA	0.323																																																	0													3	4	4					1																	104234015		200	858	1058	SO:0001630	splice_region_variant	0				CCDS30783.1	1p21	2012-10-02	2007-05-03		ENSG00000174876	ENSG00000174876	3.2.1.1		475	protein-coding gene	gene with protein product		104701	"amylase, alpha 1B; salivary"	AMY1			Standard	XM_005270758		Approved			P04745	OTTHUMG00000011021	ENST00000330330.5:c.1002-1G>A	1.37:g.104234015C>T			A6NJS5|A8K8H6|Q13763|Q5T083	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R334	ENST00000330330.5	37	c.1002	CCDS30783.1	1																																																																																			AMY1B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000174876		0.323	AMY1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1B	HGNC	protein_coding	OTTHUMT00000030309.1	-	0	77	0	C	NM_001008218	Silent	104234015	-1	tier1	-	no_errors	ENST00000330330	ensembl	human	known	74_37	silent	10.88	131	16	SNP	1.000	T	T	104234015	C	T	104234015	5	4	176	1	0	0	0	0	0	0	1	0	591	753	26	3	2125	3	AMY1A	1	104234015	Splice_Site	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	17333776	104234015	145016606	6	43910											
PRKAB2	5565	genome.wustl.edu	37	chr1	146633344	146633344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatggttgggctcagggaGtaaggctgggtcacactaag	11	8	15	7	0	2	0	2	0	0	0	2	1	2	1	0	5	1	4	0	5	3	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:146633344G>A	ENST00000254101.3	-	7	826	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	PRKAB2_ENST00000496858.1_5'UTR|PRKAB2_ENST00000425272.2_Missense_Mutation_p.L148F	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	230					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)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	GGCTCAGGGAGTAAGGCTGGG	0.418																																																	0													77	72	74					1																	146633344		2203	4300	6503	SO:0001583	missense	0			BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"AMPK beta 2"	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.688C>T	1.37:g.146633344G>A	ENSP00000254101:p.Leu230Phe		A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set	p.L230F	ENST00000254101.3	37	c.688	CCDS925.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790181	0.90367	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.19	5.19	0.71726	5-AMP-activated protein kinase, beta subunit, interaction domain (1);	0.000000	0.85682	D	0.000000	D	0.85775	0.5775	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.88965	0.3396	9	0.87932	D	0	.	16.6026	0.84820	0.0:0.0:1.0:0.0	.	148;230	B4DH06;O43741	.;AAKB2_HUMAN	F	230;148	.	ENSP00000254101:L230F	L	-	1	0	PRKAB2	145099968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.416000	0.73332	2.865000	0.98341	0.655000	0.94253	CTC	PRKAB2	-	pfam_AMP_prot_kin_bsu_interact-dom	ENSG00000131791		0.418	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAB2	HGNC	protein_coding	OTTHUMT00000039471.1	-	0	60	0	G	NM_005399		146633344	-1	tier1	-	no_errors	ENST00000254101	ensembl	human	known	74_37	missense	41.41	75	53	SNP	1.000	A	A	146633344	G	A	146633344	3	1	176	1	0	0	0	0	1	0	0	0	12538	1029	36	3	138	3	PRKAB2	1	146633344	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	42399329	146633344	102617277	7	43911											
FCRL2	79368	genome.wustl.edu	37	chr1	157740416	157740416	+	Silent	SNP	T	T	C	0	1	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	catttcagaacgatgctgtcTccttcgaagacagaagaggg	12	9	11	9	2	2	4	1	0	1	4	4	6	2	4	1	1	2	1	1	1	3	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:157740416T>C	ENST00000361516.3	-	3	141	c.93A>G	c.(91-93)ggA>ggG	p.G31G	FCRL2_ENST00000368181.4_Silent_p.G31G|FCRL2_ENST00000392274.3_Silent_p.G31G|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	31	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGATGCTGTCTCCTTCGAAGA	0.453																																																	0													47	47	47					1																	157740416		2203	4300	6503	SO:0001819	synonymous_variant	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.93A>G	1.37:g.157740416T>C			A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G31	ENST00000361516.3	37	c.93	CCDS1168.1	1																																																																																			FCRL2	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000132704		0.453	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	-	0	11	0	T	NM_030764		157740416	-1	tier1	-	no_errors	ENST00000361516	ensembl	human	known	74_37	silent	26.47	25	9	SNP	0.936	C	C	157740416	T	C	157740416	2	2	176	1	0	0	0	0	0	0	0	1	5817	1538	54	4		4	FCRL2	1	157740416	Silent	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09	11107072	157740416	91510205	8	43912											
ASTN1	460	genome.wustl.edu	37	chr1	176926901	176926901	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgctgcagtcgcgcacCggcccaaaggaatctaagag	10	8	11	12	3	2	1	0	0	2	1	3	2	2	2	2	2	2	3	2	2	3	2	rs367953854		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:176926901C>A	ENST00000367654.3	-	11	2035	c.1824G>T	c.(1822-1824)ccG>ccT	p.P608P	ASTN1_ENST00000424564.2_Silent_p.P600P|ASTN1_ENST00000367657.3_Silent_p.P600P|ASTN1_ENST00000361833.2_Silent_p.P600P|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	608	EGF-like 2.				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						AGTCGCGCACCGGCCCAAAGG	0.547																																																	0													62	58	59					1																	176926901		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1824G>T	1.37:g.176926901C>A			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.P608	ENST00000367654.3	37	c.1824		1																																																																																			ASTN1	-	NULL	ENSG00000152092		0.547	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0	11	0	C	NM_004319		176926901	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	silent	29.27	29	12	SNP	0.111	A	A	176926901	C	A	176926901	2	1	176	1	0	0	0	0	0	0	0	1	1065	639	23	2		2	ASTN1	1	176926901	Silent	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	19186485	176926901	72323720	9	43913											
APOB	338	genome.wustl.edu	37	chr2	21231903	21231903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactataaaatcaggtgtctGgaaggtagctttctgaagag	13	11	12	5	0	3	2	1	1	2	1	3	4	3	3	0	3	1	2	0	3	6	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:21231903G>T	ENST00000233242.1	-	26	7964	c.7837C>A	c.(7837-7839)Cag>Aag	p.Q2613K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2613					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)					TCAGGTGTCTGGAAGGTAGCT	0.413																																																	0													82	83	83					2																	21231903		2203	4300	6503	SO:0001583	missense	0			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.7837C>A	2.37:g.21231903G>T	ENSP00000233242:p.Gln2613Lys		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q2613K	ENST00000233242.1	37	c.7837	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	9.419	1.082632	0.20309	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00695	5.83	5.16	5.16	0.70880	.	0.253390	0.28317	N	0.015786	T	0.01061	0.0035	L	0.50333	1.59	0.80722	D	1	B	0.26195	0.144	B	0.15870	0.014	T	0.66822	-0.5826	10	0.25106	T	0.35	.	13.6158	0.62108	0.0:0.0:0.8451:0.1549	.	2613	P04114	APOB_HUMAN	K	2613	ENSP00000233242:Q2613K	ENSP00000233242:Q2613K	Q	-	1	0	APOB	21085408	1.000000	0.71417	0.981000	0.43875	0.930000	0.56654	3.314000	0.51943	2.404000	0.81709	0.561000	0.74099	CAG	APOB	-	NULL	ENSG00000084674		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	32	0	G			21231903	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.987	T	T	21231903	G	T	21231903	3	4	176	1	0	0	0	0	1	0	0	0	785	1357	47	3	5870	3	APOB	2	21231903	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		21231903	221967470	10	43914											
GALNT14	79623	genome.wustl.edu	37	chr2	31147091	31147091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggcacttctgtctctgtCggatattgcccttctggatg	5	14	10	12	1	3	0	0	0	3	0	5	2	3	2	2	3	1	1	2	3	1	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:31147091C>T	ENST00000349752.5	-	13	1913	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	GALNT14_ENST00000324589.5_Missense_Mutation_p.R430Q|GALNT14_ENST00000356174.3_Missense_Mutation_p.R392Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.R390Q|GALNT14_ENST00000406653.1_Missense_Mutation_p.R405Q|GALNT14_ENST00000486564.1_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	425	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(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTGTCTCTGTCGGATATTGCC	0.517																																																	0													240	222	228					2																	31147091		2203	4300	6503	SO:0001583	missense	0			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.1274G>A	2.37:g.31147091C>T	ENSP00000288988:p.Arg425Gln		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R425Q	ENST00000349752.5	37	c.1274	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784940	0.70222	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.66638	1.74;1.74;1.74;1.74;1.74;-0.22	4.84	4.84	0.62591	Ricin B-related lectin (1);Ricin B lectin (3);	0.345212	0.29300	N	0.012543	T	0.77818	0.4187	M	0.64567	1.98	0.80722	D	1	P;D;D;P;D	0.76494	0.895;0.999;0.981;0.952;0.999	B;P;P;P;P	0.62014	0.358;0.873;0.568;0.49;0.897	T	0.76708	-0.2860	10	0.34782	T	0.22	.	17.9725	0.89117	0.0:1.0:0.0:0.0	.	390;392;430;425;405	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	Q	425;430;405;392;390;392	ENSP00000288988:R425Q;ENSP00000314500:R430Q;ENSP00000385435:R405Q;ENSP00000348497:R392Q;ENSP00000415514:R390Q;ENSP00000406399:R392Q	ENSP00000314500:R430Q	R	-	2	0	GALNT14	31000595	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	4.631000	0.61304	2.234000	0.73211	0.563000	0.77884	CGA	GALNT14	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000158089		0.517	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	-	0	27	0	C	NM_024572		31147091	-1	tier1	-	no_errors	ENST00000349752	ensembl	human	known	74_37	missense	11.54	68	9	SNP	1.000	T	T	31147091	C	T	31147091	3	4	176	1	0	0	0	0	1	0	0	0	6237	884	31	1	396	1	GALNT14	2	31147091	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	9915188	31147091	212052282	11	43915											
DYSF	8291	genome.wustl.edu	37	chr2	71906280	71906280	+	Missense_Mutation	SNP	A	A	C	1	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	ggatgatgctttccacccagAatggtttgtgtccctttttg	6	16	10	9	0	0	2	0	1	0	1	2	3	2	3	3	2	1	2	3	2	1	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:71906280A>C	ENST00000258104.3	+	52	6138	c.5861A>C	c.(5860-5862)gAa>gCa	p.E1954A	DYSF_ENST00000409762.1_Missense_Mutation_p.E1971A|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.E1986A|DYSF_ENST00000410041.1_Missense_Mutation_p.E1972A|DYSF_ENST00000410020.3_Missense_Mutation_p.E1993A|DYSF_ENST00000409366.1_Missense_Mutation_p.E1976A|DYSF_ENST00000413539.2_Missense_Mutation_p.E1985A|DYSF_ENST00000409744.1_Missense_Mutation_p.E1962A|DYSF_ENST00000394120.2_Missense_Mutation_p.E1955A|DYSF_ENST00000429174.2_Missense_Mutation_p.E1975A|DYSF_ENST00000409582.3_Missense_Mutation_p.E1992A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1954					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						TTCCACCCAGAATGGTTTGTG	0.532																																																	0													136	122	127					2																	71906280		2203	4300	6503	SO:0001583	missense	0			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.5861A>C	2.37:g.71906280A>C	ENSP00000258104:p.Glu1954Ala		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.E1985A	ENST00000258104.3	37	c.5954	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287566	0.23478	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.28	5.28	0.74379	C2 calcium/lipid-binding domain, CaLB (1);	0.487586	0.24124	N	0.041324	T	0.64249	0.2581	N	0.11560	0.145	0.39872	D	0.973521	B;B;P;P;B;B;B;B;B;P;B;B;B;P;B	0.41524	0.017;0.097;0.753;0.516;0.202;0.004;0.004;0.004;0.004;0.753;0.109;0.13;0.202;0.516;0.382	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.38755	0.009;0.087;0.281;0.281;0.281;0.012;0.006;0.012;0.012;0.281;0.064;0.037;0.205;0.281;0.146	T	0.64533	-0.6385	10	0.12103	T	0.63	-25.981	8.8863	0.35404	0.8334:0.0:0.0:0.1665	.	718;1986;1993;1976;1941;1972;1962;1971;1961;1985;1992;1975;1940;1955;1954	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	A	1985;1971;1992;1975;1954;1986;1955;1962;1976;1993;1972	ENSP00000407046:E1985A;ENSP00000387137:E1971A;ENSP00000386547:E1992A;ENSP00000398305:E1975A;ENSP00000258104:E1954A;ENSP00000386683:E1986A;ENSP00000377678:E1955A;ENSP00000386285:E1962A;ENSP00000386512:E1976A;ENSP00000386881:E1993A;ENSP00000386617:E1972A	ENSP00000258104:E1954A	E	+	2	0	DYSF	71759788	0.995000	0.38212	0.947000	0.38551	0.973000	0.67179	3.844000	0.55873	2.147000	0.66899	0.528000	0.53228	GAA	DYSF	-	superfamily_C2_dom	ENSG00000135636		0.532	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0	29	0	A	NM_003494		71906280	1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	missense	12.12	58	8	SNP	0.960	C	C	71906280	A	C	71906280	3	2	176	1	0	0	0	0	1	0	0	0	4873	246	9	4	6326	4	DYSF	2	71906280	Missense_Mutation	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	40759189	71906280	171293093	12	43916											
RGPD1	400966	genome.wustl.edu	37	chr2	87201286	87201286	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctttacctggaatccgaaAatggctaaaacagcttttcc	12	12	7	10	1	0	0	0	0	0	0	2	2	2	1	3	2	4	3	3	2	6	5			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:87201286A>C	ENST00000559485.1	+	10	1356	c.1340A>C	c.(1339-1341)aAa>aCa	p.K447T	RGPD1_ENST00000409776.2_Missense_Mutation_p.K447T|RGPD1_ENST00000398193.3_Missense_Mutation_p.K455T	NM_001024457.3	NP_001019628.3	P0DJD0	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1	447					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(1)|lung(1)	3						GGAATCCGAAAATGGCTAAAA	0.393																																																	0													6	6	6					2																	87201286		1059	2626	3685	SO:0001583	missense	0				CCDS46358.1, CCDS46358.2	2p11.2	2013-09-24			ENSG00000187627	ENSG00000187627		"Tetratricopeptide (TTC) repeat domain containing"	32414	protein-coding gene	gene with protein product		612704				15710750, 15815621	Standard	NM_001024457		Approved	RGP1	uc021vkh.1	P0DJD0	OTTHUMG00000153248	ENST00000559485.1:c.1340A>C	2.37:g.87201286A>C	ENSP00000453170:p.Lys447Thr		P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR_1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.K455T	ENST00000559485.1	37	c.1364	CCDS46358.2	2	.	.	.	.	.	.	.	.	.	.	.	8.637	0.895108	0.17613	.	.	ENSG00000187627	ENST00000409776;ENST00000398193	T;T	0.54071	0.59;0.59	2.33	2.33	0.28932	.	.	.	.	.	T	0.47764	0.1463	L	0.60455	1.87	0.80722	D	1	P;P	0.46512	0.879;0.808	B;B	0.42827	0.399;0.224	T	0.51309	-0.8722	9	0.66056	D	0.02	-24.3902	8.2389	0.31645	1.0:0.0:0.0:0.0	.	455;447	F8VYC4;Q68DN6	.;RGPD1_HUMAN	T	447;455	ENSP00000386808:K447T;ENSP00000381253:K455T	ENSP00000381253:K455T	K	+	2	0	RGPD1	87054797	1.000000	0.71417	0.999000	0.59377	0.509000	0.34042	3.650000	0.54424	1.076000	0.40961	0.147000	0.16070	AAA	RGPD1	-	NULL	ENSG00000187627		0.393	RGPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGPD1	HGNC	protein_coding	OTTHUMT00000330684.4	-	0	35	0	A	NM_001024457		87201286	1	tier1	-	no_errors	ENST00000398193	ensembl	human	known	74_37	missense	10.34	78	9	SNP	0.997	C	C	87201286	A	C	87201286	3	2	176	1	0	0	0	0	1	0	0	0	13330	14	1	4	1378	4	RGPD1	2	87201286	Missense_Mutation	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	15295006	87201286	155998087	13	43917											
TMEM182	130827	genome.wustl.edu	37	chr2	103378750	103378750	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttactctttttggtggcttTtggatcggattattggcttc	4	20	11	6	1	1	0	0	0	1	0	3	2	1	2	0	5	1	3	0	5	2	8			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:103378750T>G	ENST00000412401.2	+	1	279	c.74T>G	c.(73-75)tTt>tGt	p.F25C	TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	25						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTGGTGGCTTTTGGATCGGAT	0.393																																																	0													171	164	166					2																	103378750		2203	4300	6503	SO:0001583	missense	0			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.74T>G	2.37:g.103378750T>G	ENSP00000394178:p.Phe25Cys		C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	NULL	p.F25C	ENST00000412401.2	37	c.74	CCDS2064.1	2	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910504	0.72983	.	.	ENSG00000170417	ENST00000412401	T	0.68765	-0.35	6.02	4.83	0.62350	.	0.044241	0.85682	D	0.000000	T	0.78342	0.4268	M	0.68593	2.085	0.52501	D	0.999959	D	0.71674	0.998	D	0.66847	0.947	T	0.79914	-0.1602	10	0.87932	D	0	-27.8619	12.4573	0.55712	0.1256:0.0:0.0:0.8744	.	25	Q6ZP80	TM182_HUMAN	C	25	ENSP00000394178:F25C	ENSP00000394178:F25C	F	+	2	0	TMEM182	102745182	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	6.029000	0.70895	1.048000	0.40298	0.533000	0.62120	TTT	TMEM182	-	NULL	ENSG00000170417		0.393	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM182	HGNC	protein_coding	OTTHUMT00000253293.1	-	0	19	0	T	NM_144632		103378750	1	tier1	-	no_errors	ENST00000412401	ensembl	human	known	74_37	missense	46.97	35	31	SNP	1.000	G	G	103378750	T	G	103378750	3	3	176	1	0	0	0	0	1	0	0	0	16148	1841	64	4	76	4	TMEM182	2	103378750	Missense_Mutation	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09	16177464	103378750	139820623	14	43918											
GCC2	9648	genome.wustl.edu	37	chr2	109086172	109086172	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacatataaactatgtgaaAgaaattgaaaatttgaaaaa	22	11	5	3	0	1	4	1	3	0	1	1	4	1	4	0	0	1	0	0	0	10	5			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:109086172A>G	ENST00000309863.6	+	6	1101	c.387A>G	c.(385-387)aaA>aaG	p.K129K	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	129					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						ACTATGTGAAAGAAATTGAAA	0.323																																																	0													66	74	71					2																	109086172		2203	4299	6502	SO:0001819	synonymous_variant	0			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.387A>G	2.37:g.109086172A>G			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.K129	ENST00000309863.6	37	c.387	CCDS33268.1	2																																																																																			GCC2	-	NULL	ENSG00000135968		0.323	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	-	0	46	0	A	NM_014635		109086172	1	tier1	-	no_errors	ENST00000309863	ensembl	human	known	74_37	silent	34.09	58	30	SNP	0.991	G	G	109086172	A	G	109086172	2	3	176	1	0	0	0	0	0	0	0	1	6311	69	3	4		4	GCC2	2	109086172	Silent	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	5707422	109086172	134113201	15	43919											
EN1	2019	genome.wustl.edu	37	chr2	119600737	119600737	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttgcctggaactccgccTtgagtctctgcagctgctcg	4	12	12	13	2	1	1	0	1	1	0	4	2	2	2	3	2	5	4	3	2	1	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:119600737T>G	ENST00000295206.6	-	2	1466	c.956A>C	c.(955-957)aAg>aCg	p.K319T	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	319					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GAACTCCGCCTTGAGTCTCTG	0.622																																																	0													48	41	43					2																	119600737		2203	4300	6503	SO:0001583	missense	0			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"Homeoboxes / ANTP class : NKL subclass"	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.956A>C	2.37:g.119600737T>G	ENSP00000295206:p.Lys319Thr		Q4ZG44	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4	p.K319T	ENST00000295206.6	37	c.956	CCDS2123.1	2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.466199	0.84425	.	.	ENSG00000163064	ENST00000295206	D	0.96334	-3.98	4.72	4.72	0.59763	Homeodomain-related (1);Homeobox engrailed (1);Homeobox (3);Homeodomain-like (1);	0.055459	0.64402	D	0.000003	D	0.97660	0.9233	M	0.79123	2.44	0.80722	D	1	D	0.71674	0.998	D	0.67103	0.949	D	0.98366	1.0551	10	0.87932	D	0	-15.6972	13.8739	0.63638	0.0:0.0:0.0:1.0	.	319	Q05925	HME1_HUMAN	T	319	ENSP00000295206:K319T	ENSP00000295206:K319T	K	-	2	0	EN1	119317207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.039000	0.88947	1.765000	0.52091	0.454000	0.30748	AAG	EN1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed	ENSG00000163064		0.622	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EN1	HGNC	protein_coding	OTTHUMT00000254191.3	-	0	10	0	T			119600737	-1	tier1	-	no_errors	ENST00000295206	ensembl	human	known	74_37	missense	38.89	22	14	SNP	1.000	G	G	119600737	T	G	119600737	3	3	176	1	0	0	0	0	1	0	0	0	5125	1609	56	4	226	4	EN1	2	119600737	Missense_Mutation	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09	10514565	119600737	123598636	16	43920											
FAM128B	80097	genome.wustl.edu	37	chr2	130948069	130948069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaaggcagcgctgccctcgGgggagcattggccctggcgg	6	5	17	13	3	0	0	0	0	0	0	1	1	0	1	2	6	3	3	2	6	1	1			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:130948069G>T	ENST00000281871.6	+	3	702	c.347G>T	c.(346-348)gGg>gTg	p.G116V	MZT2B_ENST00000409255.1_Missense_Mutation_p.G176V	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	116						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						GCTGCCCTCGGGGGAGCATTG	0.647																																																	0													31	31	31					2																	130948069		2203	4300	6503	SO:0001583	missense	0			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.347G>T	2.37:g.130948069G>T	ENSP00000281871:p.Gly116Val		Q96CG4	Missense_Mutation	SNP	NULL	p.G116V	ENST00000281871.6	37	c.347	CCDS2157.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.76|11.76	1.735068|1.735068	0.30774|0.30774	.|.	.|.	ENSG00000152082|ENSG00000152082	ENST00000457492;ENST00000281871;ENST00000409255|ENST00000425361	T;T;T|T	0.36340|0.35605	1.34;1.34;1.26|1.3	2.61|2.61	2.61|2.61	0.31194|0.31194	.|.	0.920600|0.920600	0.09315|0.09315	N|N	0.819062|0.819062	T|T	0.47116|0.47116	0.1428|0.1428	L|L	0.54323|0.54323	1.7|1.7	0.37917|0.37917	D|D	0.931574|0.931574	P|.	0.50443|.	0.935|.	P|.	0.47346|.	0.544|.	T|T	0.54450|0.54450	-0.8292|-0.8292	10|8	0.51188|0.87932	T|D	0.08|0	-0.1203|-0.1203	11.3703|11.3703	0.49696|0.49696	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	116|.	Q6NZ67|.	MZT2B_HUMAN|.	V|W	79;116;176|80	ENSP00000387805:G79V;ENSP00000281871:G116V;ENSP00000386419:G176V|ENSP00000398749:G80W	ENSP00000281871:G116V|ENSP00000398749:G80W	G|G	+|+	2|1	0|0	MZT2B|MZT2B	130664539|130664539	0.648000|0.648000	0.27313|0.27313	0.104000|0.104000	0.21259|0.21259	0.007000|0.007000	0.05969|0.05969	1.221000|1.221000	0.32503|0.32503	1.783000|1.783000	0.52377|0.52377	0.455000|0.455000	0.32223|0.32223	GGG|GGG	MZT2B	-	NULL	ENSG00000152082		0.647	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MZT2B	HGNC	protein_coding	OTTHUMT00000254518.1	-	0	37	0	G	NM_025029		130948069	1	tier1	-	no_errors	ENST00000281871	ensembl	human	known	74_37	missense	11.94	59	8	SNP	0.322	T	T	130948069	G	T	130948069	3	4	176	1	0	0	0	0	1	0	0	0	5454	1232	43	3	357	3	FAM128B	2	130948069	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	11347332	130948069	112251304	17	43921											
COBLL1	22837	genome.wustl.edu	37	chr2	165548881	165548881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagttggtatttgggaattCtgttcattatgtgcagagtt	8	17	13	3	0	2	1	1	0	1	1	2	3	2	3	0	3	1	5	0	3	3	7			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:165548881C>G	ENST00000392717.2	-	14	3382	c.3378G>C	c.(3376-3378)caG>caC	p.Q1126H	COBLL1_ENST00000409184.3_Missense_Mutation_p.Q1088H|COBLL1_ENST00000375458.2_Missense_Mutation_p.Q1050H|COBLL1_ENST00000194871.6_Missense_Mutation_p.Q1155H|COBLL1_ENST00000342193.4_Missense_Mutation_p.Q1088H			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1126						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						TTTGGGAATTCTGTTCATTAT	0.348																																																	0													119	115	117					2																	165548881		2203	4300	6503	SO:0001583	missense	0			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.3378G>C	2.37:g.165548881C>G	ENSP00000376478:p.Gln1126His		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom	p.Q1155H	ENST00000392717.2	37	c.3465		2	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149762	0.37923	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.73	2.82	0.32997	.	0.212016	0.33457	N	0.004881	T	0.22205	0.0535	N	0.17474	0.49	0.22796	N	0.998724	D;D;P	0.54047	0.964;0.964;0.954	P;P;P	0.49451	0.492;0.492;0.611	T	0.06625	-1.0816	8	.	.	.	-0.3895	7.2529	0.26160	0.0:0.5987:0.1482:0.2531	.	1126;1155;1088	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	H	1050;1088;1088;1126;1155	.	.	Q	-	3	2	COBLL1	165257127	0.762000	0.28451	0.980000	0.43619	0.812000	0.45895	-0.052000	0.11865	0.348000	0.23949	0.557000	0.71058	CAG	COBLL1	-	NULL	ENSG00000082438		0.348	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		-	0	23	0	C	NM_014900		165548881	-1	tier1	-	no_errors	ENST00000194871	ensembl	human	known	74_37	missense	14.29	54	9	SNP	0.976	G	G	165548881	C	G	165548881	3	3	176	1	0	0	0	0	1	0	0	0	3661	912	32	5	244	5	COBLL1	2	165548881	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	34600812	165548881	77650492	18	43922											
XIRP2	129446	genome.wustl.edu	37	chr2	168107984	168107984	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatgcaaagggagaaacaaAccataacatacaacaagaaa	23	5	6	7	0	0	2	0	0	0	2	0	3	0	2	1	1	6	1	1	1	9	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:168107984A>C	ENST00000409195.1	+	9	10171	c.10082A>C	c.(10081-10083)aAc>aCc	p.N3361T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N3361T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N3139T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3186					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						GGAGAAACAAACCATAACATA	0.363																																																	0													121	116	117					2																	168107984		1850	4099	5949	SO:0001583	missense	0			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.10082A>C	2.37:g.168107984A>C	ENSP00000386840:p.Asn3361Thr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.N3361T	ENST00000409195.1	37	c.10082	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042653	0.35989	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02552	4.25;4.25;4.25	6.07	2.37	0.29283	.	0.404619	0.31531	N	0.007493	T	0.05044	0.0135	M	0.64997	1.995	0.09310	N	1	P;P;B	0.45902	0.792;0.868;0.023	B;P;B	0.46076	0.307;0.503;0.027	T	0.25984	-1.0116	10	0.52906	T	0.07	-4.8398	6.6141	0.22766	0.732:0.1304:0.1375:0.0	.	3186;3186;3139	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	3361;3361;3139;775	ENSP00000386840:N3361T;ENSP00000295237:N3361T;ENSP00000387255:N3139T	ENSP00000295237:N3361T	N	+	2	0	XIRP2	167816230	0.003000	0.15002	0.618000	0.29105	0.742000	0.42306	0.250000	0.18235	0.171000	0.19730	0.477000	0.44152	AAC	XIRP2	-	NULL	ENSG00000163092		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	11	0	A	NM_152381		168107984	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.010	C	C	168107984	A	C	168107984	3	2	176	1	0	0	0	0	1	0	0	0	17479	43	2	4	10112	4	XIRP2	2	168107984	Missense_Mutation	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	2559103	168107984	75091389	19	43923											
TTN	7273	genome.wustl.edu	37	chr2	179456788	179456788	+	Missense_Mutation	SNP	A	A	G	1	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	tctccgcagctactcggaagAggtactggttgccttcattc	7	12	10	12	2	2	1	1	0	1	1	5	2	2	2	2	3	4	4	2	3	3	5			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:179456788A>G	ENST00000591111.1	-	252	55144	c.54920T>C	c.(54919-54921)cTc>cCc	p.L18307P	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L11075P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L11008P|TTN_ENST00000460472.2_Missense_Mutation_p.L10883P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L19948P|TTN_ENST00000342992.6_Missense_Mutation_p.L17380P			Q8WZ42	TITIN_HUMAN	titin	18307	Fibronectin type-III 32. {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)			TACTCGGAAGAGGTACTGGTT	0.488																																																	0													78	77	77					2																	179456788		1912	4137	6049	SO:0001583	missense	0			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.54920T>C	2.37:g.179456788A>G	ENSP00000465570:p.Leu18307Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L17380P	ENST00000591111.1	37	c.52139		2	.	.	.	.	.	.	.	.	.	.	A	9.347	1.064619	0.20067	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66665	0.2812	M	0.81614	2.55	0.80722	D	1	P;P;P;P	0.35107	0.484;0.484;0.484;0.484	P;P;P;B	0.44623	0.455;0.455;0.455;0.354	T	0.69939	-0.5009	9	0.87932	D	0	.	16.5724	0.84622	1.0:0.0:0.0:0.0	.	10883;11008;11075;18307	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	17380;10883;11075;11008;10881	ENSP00000343764:L17380P;ENSP00000434586:L10883P;ENSP00000340554:L11075P;ENSP00000352154:L11008P	ENSP00000340554:L11075P	L	-	2	0	TTN	179165034	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.787000	0.69013	2.313000	0.78055	0.455000	0.32223	CTC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	17	0	A	NM_133378		179456788	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	20.55	58	15	SNP	1.000	G	G	179456788	A	G	179456788	3	3	176	1	0	0	0	0	1	0	0	0	16784	304	11	4	48380	4	TTN	2	179456788	Missense_Mutation	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	11348804	179456788	63742585	20	43924											
TTN	7273	genome.wustl.edu	37	chr2	179482140	179482140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcaattatatagcctaatAttgggcttcctccatctttc	9	16	5	11	0	2	0	1	0	1	0	5	0	4	0	3	1	1	2	3	1	6	8			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:179482140A>G	ENST00000591111.1	-	204	42973	c.42749T>C	c.(42748-42750)aTa>aCa	p.I14250T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.I7018T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I6951T|TTN_ENST00000460472.2_Missense_Mutation_p.I6826T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I15891T|TTN_ENST00000342992.6_Missense_Mutation_p.I13323T			Q8WZ42	TITIN_HUMAN	titin	14250	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)			ATAGCCTAATATTGGGCTTCC	0.423																																																	0													90	81	84					2																	179482140		1857	4092	5949	SO:0001583	missense	0			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.42749T>C	2.37:g.179482140A>G	ENSP00000465570:p.Ile14250Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I13323T	ENST00000591111.1	37	c.39968		2	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565501	0.27915	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	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	0.80586	0.4651	M	0.92649	3.33	0.51767	D	0.999937	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.53988	0.666;0.666;0.666;0.739	D	0.85580	0.1239	9	0.87932	D	0	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	6826;6951;7018;14250	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13323;6826;7018;6951;6826	ENSP00000343764:I13323T;ENSP00000434586:I6826T;ENSP00000340554:I7018T;ENSP00000352154:I6951T	ENSP00000340554:I7018T	I	-	2	0	TTN	179190385	1.000000	0.71417	0.972000	0.41901	0.609000	0.37215	9.281000	0.95811	2.265000	0.75225	0.533000	0.62120	ATA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	9	0	A	NM_133378		179482140	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.997	G	G	179482140	A	G	179482140	3	3	176	1	0	0	0	0	1	0	0	0	16784	449	16	4	60457	4	TTN	2	179482140	Missense_Mutation	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	25352	179482140	63717233	21	43925											
MAP2	4133	genome.wustl.edu	37	chr2	210594936	210594936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagttgaacttcagagagCatgctaaagcccgtgtggac	14	8	11	8	1	1	2	1	1	0	1	1	4	1	3	1	1	4	3	1	1	5	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:210594936C>T	ENST00000360351.4	+	15	5805	c.5299C>T	c.(5299-5301)Cat>Tat	p.H1767Y	MAP2_ENST00000361559.4_Missense_Mutation_p.H411Y|MAP2_ENST00000392194.1_Missense_Mutation_p.H411Y|MAP2_ENST00000199940.6_Missense_Mutation_p.H499Y|MAP2_ENST00000447185.1_Missense_Mutation_p.H1763Y	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1767					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CTTCAGAGAGCATGCTAAAGC	0.512																																					Pancreas(27;423 979 28787 29963)												0													81	74	76					2																	210594936		2203	4300	6503	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5299C>T	2.37:g.210594936C>T	ENSP00000353508:p.His1767Tyr		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.H1767Y	ENST00000360351.4	37	c.5299	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799156	0.50208	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.23147	1.92;3.2;2.24;2.24;3.2	5.63	5.63	0.86233	.	0.000000	0.56097	D	0.000026	T	0.33644	0.0870	N	0.08118	0	0.34413	D	0.69655	D;P;P;D;B	0.63880	0.993;0.775;0.539;0.979;0.14	D;B;B;P;B	0.71414	0.973;0.271;0.091;0.885;0.073	T	0.51818	-0.8657	10	0.59425	D	0.04	-14.1616	19.6741	0.95924	0.0:1.0:0.0:0.0	.	1763;411;412;1767;499	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	Y	499;1767;411;411;1763	ENSP00000199940:H499Y;ENSP00000353508:H1767Y;ENSP00000355290:H411Y;ENSP00000376032:H411Y;ENSP00000392164:H1763Y	ENSP00000199940:H499Y	H	+	1	0	MAP2	210303181	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	1.553000	0.36255	2.648000	0.89879	0.650000	0.86243	CAT	MAP2	-	NULL	ENSG00000078018		0.512	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0	12	0	C	NM_001039538		210594936	1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	T	T	210594936	C	T	210594936	3	4	176	1	0	0	0	0	1	0	0	0	9273	710	25	3	5617	3	MAP2	2	210594936	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	31112796	210594936	32604437	22	43926											
SNED1	25992	genome.wustl.edu	37	chr2	242003535	242003535	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttcttcggctaccactgCgagacaggtagggcggcagg	8	7	15	11	3	1	1	0	0	1	1	2	2	1	1	1	5	3	4	1	5	2	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:242003535C>A	ENST00000310397.8	+	19	2592	c.2592C>A	c.(2590-2592)tgC>tgA	p.C864*	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Nonsense_Mutation_p.C864*|SNED1_ENST00000401884.1_Nonsense_Mutation_p.C864*|SNED1_ENST00000342631.6_Nonsense_Mutation_p.C864*	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	864	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCTACCACTGCGAGACAGGTA	0.741																																																	0													9	13	12					2																	242003535		1858	4020	5878	SO:0001587	stop_gained	0			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.2592C>A	2.37:g.242003535C>A	ENSP00000308893:p.Cys864*		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.C864*	ENST00000310397.8	37	c.2592	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	39	7.872007	0.98537	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	.	.	.	4.09	-6.17	0.02091	.	0.000000	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1895	0.73032	0.0:0.1219:0.0:0.8781	.	.	.	.	X	864	.	ENSP00000308893:C864X	C	+	3	2	SNED1	241652208	0.000000	0.05858	0.937000	0.37676	0.544000	0.35116	-3.215000	0.00554	-1.343000	0.02219	-0.657000	0.03884	TGC	SNED1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000162804		0.741	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	-	0	16	0	C	XM_059482		242003535	1	tier1	-	no_errors	ENST00000310397	ensembl	human	known	74_37	nonsense	32.00	34	16	SNP	0.910	A	A	242003535	C	A	242003535	4	1	176	1	0	0	0	0	0	1	0	0	14890	776	27	2	2666	2	SNED1	2	242003535	Nonsense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	31408599	242003535	1195838	23	43927											
CMTM8	152189	genome.wustl.edu	37	chr3	32409471	32409471	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaacttcaacagctgggcGgcctcatcggtgagtagccc	9	7	11	14	2	2	1	2	1	0	0	3	1	2	1	2	3	4	2	2	3	3	2	rs373166159		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:32409471G>T	ENST00000307526.3	+	3	723	c.429G>T	c.(427-429)gcG>gcT	p.A143A	CMTM8_ENST00000458535.2_Silent_p.A85A	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	143	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						ACAGCTGGGCGGCCTCATCGG	0.552																																																	0													145	105	118					3																	32409471		2203	4300	6503	SO:0001819	synonymous_variant	0			AF474370	CCDS2652.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000170293	ENSG00000170293			19179	protein-coding gene	gene with protein product		607891	"chemokine-like factor super family 8", "chemokine-like factor superfamily 8"	CKLFSF8			Standard	NM_178868		Approved		uc003cex.3	Q8IZV2	OTTHUMG00000130753	ENST00000307526.3:c.429G>T	3.37:g.32409471G>T			A5D6I7|Q8IW01	Silent	SNP	pfam_Marvel,prints_MAL	p.A143	ENST00000307526.3	37	c.429	CCDS2652.1	3																																																																																			CMTM8	-	pfam_Marvel,prints_MAL	ENSG00000170293		0.552	CMTM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMTM8	HGNC	protein_coding	OTTHUMT00000253253.1	-	0	11	0	G	NM_178868		32409471	1	tier1	-	no_errors	ENST00000307526	ensembl	human	known	74_37	silent	57.14	6	8	SNP	0.006	T	T	32409471	G	T	32409471	2	4	176	1	0	0	0	0	0	0	0	1	3596	1103	39	2		2	CMTM8	3	32409471	Silent	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		32409471	165612959	24	43928											
ARPP21	10777	genome.wustl.edu	37	chr3	35763159	35763159	+	Missense_Mutation	SNP	T	T	G	0	1	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	gagcagctcagaaaatgaacTcaagtggtctgaccaccaaa	16	6	9	10	0	3	3	2	2	1	1	3	4	3	3	2	1	3	2	2	1	5	0			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:35763159T>G	ENST00000187397.4	+	14	1514	c.1058T>G	c.(1057-1059)cTc>cGc	p.L353R	ARPP21_ENST00000337271.5_Missense_Mutation_p.L299R|ARPP21_ENST00000444190.1_Missense_Mutation_p.L299R|ARPP21_ENST00000417925.1_Missense_Mutation_p.L319R|ARPP21_ENST00000458225.1_Missense_Mutation_p.L319R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	353	Ser-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						GAAAATGAACTCAAGTGGTCT	0.562																																																	0													65	59	61					3																	35763159		2203	4300	6503	SO:0001583	missense	0			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.1058T>G	3.37:g.35763159T>G	ENSP00000187397:p.Leu353Arg		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.L319R	ENST00000187397.4	37	c.956	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641612	0.67244	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.29655	1.56;1.62;1.62;1.6;1.56	5.75	4.53	0.55603	.	0.210965	0.42172	D	0.000744	T	0.40862	0.1134	L	0.61218	1.895	0.37353	D	0.910885	P;P;P	0.51057	0.941;0.918;0.941	P;P;P	0.53313	0.653;0.723;0.653	T	0.38585	-0.9654	10	0.26408	T	0.33	-13.6755	11.5487	0.50708	0.0:0.0:0.2743:0.7257	.	319;353;299	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	R	319;299;299;353;319	ENSP00000414351:L319R;ENSP00000337792:L299R;ENSP00000405276:L299R;ENSP00000187397:L353R;ENSP00000412326:L319R	ENSP00000187397:L353R	L	+	2	0	ARPP21	35738163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.065000	0.41442	2.201000	0.70794	0.533000	0.62120	CTC	ARPP21	-	NULL	ENSG00000172995		0.562	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	-	0	11	0	T	NM_198399		35763159	1	tier1	-	no_errors	ENST00000417925	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.989	G	G	35763159	T	G	35763159	3	3	176	1	0	0	0	0	1	0	0	0	979	1551	54	4	1117	4	ARPP21	3	35763159	Missense_Mutation	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09	3353688	35763159	162259271	25	43929											
PARP3	10039	genome.wustl.edu	37	chr3	51976714	51976714	+	5'UTR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacctctcccatgtccctGcttttcttgggtgagtgtcc	4	14	10	13	0	2	1	0	1	2	0	5	2	4	2	4	2	1	1	4	2	0	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:51976714G>C	ENST00000417220.2	+	0	354				RRP9_ENST00000232888.6_5'Flank|PARP3_ENST00000398755.3_Silent_p.L3L|PARP3_ENST00000431474.1_5'UTR			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3						DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCATGTCCCTGCTTTTCTTGG	0.622																																																	0													66	77	73					3																	51976714		1952	4114	6066	SO:0001623	5_prime_UTR_variant	0			AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"Poly (ADP-ribose) polymerases"	273	protein-coding gene	gene with protein product	"poly(ADP-ribose) synthetase-3", "NAD+ ADP-ribosyltransferase 3", "poly(ADP-ribose) polymerase 3"	607726	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.-135G>C	3.37:g.51976714G>C			Q8NER9|Q96CG2|Q9UG81	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.L3	ENST00000417220.2	37	c.9	CCDS43097.1	3																																																																																			PARP3	-	NULL	ENSG00000041880		0.622	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	HGNC	protein_coding	OTTHUMT00000348612.2	-	0	15	0	G	NM_005485.4		51976714	1	tier1	-	no_errors	ENST00000398755	ensembl	human	known	74_37	silent	34.78	15	8	SNP	0.000	C	C	51976714	G	C	51976714	1	2	176	0	1	0	0	0	0	0	0	0	11501	1306	46	5		5	PARP3	3	51976714	5'UTR	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	16213555	51976714	146045716	26	43930											
C3orf63	23272	genome.wustl.edu	37	chr3	56681036	56681036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctaatcgtgaatcatatgGaaacataataaactctcgtt	16	13	5	7	2	3	1	1	1	2	0	5	2	3	2	0	1	2	1	0	1	7	5			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:56681036G>A	ENST00000493960.2	-	14	1739	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S	FAM208A_ENST00000355628.5_Missense_Mutation_p.P577S|FAM208A_ENST00000431842.2_Missense_Mutation_p.P181S	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	577							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						GAATCATATGGAAACATAATA	0.313																																																	0													37	40	39					3																	56681036		2198	4296	6494	SO:0001583	missense	0			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.1729C>T	3.37:g.56681036G>A	ENSP00000417509:p.Pro577Ser		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.P577S	ENST00000493960.2	37	c.1729	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336442	0.24253	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.11930	2.73;2.93;2.93	5.38	2.44	0.29823	.	0.223531	0.32106	N	0.006577	T	0.08582	0.0213	N	0.22421	0.69	0.28480	N	0.915008	B;B;B	0.15141	0.012;0.001;0.002	B;B;B	0.14023	0.01;0.002;0.002	T	0.20371	-1.0277	10	0.38643	T	0.18	-0.9963	7.8837	0.29637	0.1336:0.3528:0.5136:0.0	.	577;577;181	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	S	181;577;577	ENSP00000399410:P181S;ENSP00000417509:P577S;ENSP00000347845:P577S	ENSP00000347845:P577S	P	-	1	0	C3orf63	56656076	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.203000	0.42752	0.312000	0.23038	0.655000	0.94253	CCA	FAM208A	-	NULL	ENSG00000163946		0.313	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	-	0	59	0	G	NM_015224		56681036	-1	tier1	-	no_errors	ENST00000355628	ensembl	human	known	74_37	missense	44.00	56	44	SNP	0.927	A	A	56681036	G	A	56681036	3	1	176	1	0	0	0	0	1	0	0	0	2246	1174	41	3	3387	3	C3orf63	3	56681036	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	4704322	56681036	141341394	27	43931											
SLITRK3	22865	genome.wustl.edu	37	chr3	164906571	164906571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgaagggcagcttctttCgacgccttcggagcacgtag	7	11	12	11	4	2	1	0	1	2	0	4	3	2	2	1	2	2	4	1	2	2	5			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:164906571C>T	ENST00000475390.1	-	2	2491	c.2048G>A	c.(2047-2049)cGa>cAa	p.R683Q	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R683Q			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	683					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAGCTTCTTTCGACGCCTTCG	0.532										HNSCC(40;0.11)																																							0													76	63	67					3																	164906571		2203	4300	6503	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2048G>A	3.37:g.164906571C>T	ENSP00000420091:p.Arg683Gln		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R683Q	ENST00000475390.1	37	c.2048	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294625	0.81025	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.58506	0.33;0.33	5.0	4.12	0.48240	.	0.000000	0.34484	N	0.003921	T	0.57036	0.2026	N	0.14661	0.345	0.42862	D	0.994119	D	0.69078	0.997	D	0.67725	0.953	T	0.63350	-0.6657	10	0.72032	D	0.01	-11.9721	11.1762	0.48601	0.0:0.9128:0.0:0.0872	.	683	O94933	SLIK3_HUMAN	Q	683	ENSP00000420091:R683Q;ENSP00000241274:R683Q	ENSP00000241274:R683Q	R	-	2	0	SLITRK3	166389265	0.530000	0.26330	0.312000	0.25196	0.619000	0.37552	3.043000	0.49823	1.459000	0.47892	0.655000	0.94253	CGA	SLITRK3	-	NULL	ENSG00000121871		0.532	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0	9	0	C	NM_014926		164906571	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	missense	46.81	25	22	SNP	0.961	T	T	164906571	C	T	164906571	3	4	176	1	0	0	0	0	1	0	0	0	14789	884	31	1	889	1	SLITRK3	3	164906571	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	108225535	164906571	33115859	28	43932											
ATP11B	23200	genome.wustl.edu	37	chr3	182586882	182586883	+	Frame_Shift_Ins	INS	-	-	T																															taggtacaaactgcttcataINSttctggaatttgattcagat																										TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:182586882_182586883insT	ENST00000323116.5	+	16	1965_1966	c.1705_1706insT	c.(1705-1707)attfs	p.I569fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	569					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)			ACTGCTTCATATTCTGGAATTT	0.262																																																	0																																										SO:0001589	frameshift_variant	0			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.1707dupT	3.37:g.182586884_182586884dupT	ENSP00000321195:p.Ile569fs		Q96FN1|Q9UKK7	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L570fs	ENST00000323116.5	37	c.1705_1706	CCDS33896.1	3																																																																																			ATP11B	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000058063		0.262	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1		0	59	0	-	NM_014616		182586883	1	tier1		no_errors	ENST00000323116	ensembl	human	known	74_37	frame_shift_ins	12.20	144	20	INS	0.899:0.993	T	T	182586883	-	T	182586882	7	5	176	1	0	1	1	0	0	0	0	0	1121	449	16	0	1767	0	ATP11B	3	182586882	Frame_Shift_Ins	INS	-	TCGA-VR-AA7I-01A-11D-A403-09	17680311	182586882	15435548	29	43933											
SEC24B	10427	genome.wustl.edu	37	chr4	110384393	110384393	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatactcctcttttgtgaAtcactacaatagtccagcca	12	12	4	13	0	2	1	1	1	1	0	4	1	4	1	4	0	3	0	4	0	5	5	rs558781877		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr4:110384393A>T	ENST00000265175.5	+	2	525	c.470A>T	c.(469-471)aAt>aTt	p.N157I	SEC24B_ENST00000399100.2_Missense_Mutation_p.N157I|SEC24B_ENST00000504968.2_Missense_Mutation_p.N188I	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	157					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)		TCTTTTGTGAATCACTACAAT	0.463																																																	0													280	271	274					4																	110384393		2044	4189	6233	SO:0001583	missense	0			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.470A>T	4.37:g.110384393A>T	ENSP00000265175:p.Asn157Ile		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.N157I	ENST00000265175.5	37	c.470	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671543	0.67814	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.80566	-1.1;-1.39;-1.3	5.26	5.26	0.73747	.	0.588694	0.17610	N	0.168113	T	0.76227	0.3958	N	0.19112	0.55	0.37243	D	0.906197	P;D;P;D	0.54397	0.917;0.966;0.95;0.966	P;P;P;P	0.53809	0.548;0.641;0.735;0.641	T	0.80236	-0.1466	10	0.72032	D	0.01	-24.0731	9.1152	0.36753	0.9178:0.0:0.0822:0.0	.	107;188;157;157	B4DTM6;B7ZKM8;O95487-2;O95487	.;.;.;SC24B_HUMAN	I	188;157;157	ENSP00000428564:N188I;ENSP00000382051:N157I;ENSP00000265175:N157I	ENSP00000265175:N157I	N	+	2	0	SEC24B	110603842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.792000	0.38754	1.995000	0.58328	0.383000	0.25322	AAT	SEC24B	-	NULL	ENSG00000138802		0.463	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	-	0	13	0	A			110384393	1	tier1	-	no_errors	ENST00000265175	ensembl	human	known	74_37	missense	52.17	11	12	SNP	1.000	T	T	110384393	A	T	110384393	3	4	176	1	0	0	0	0	1	0	0	0	14040	101	4	5	476	5	SEC24B	4	110384393	Missense_Mutation	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09		110384393	80769883	30	43934											
PITX2	5308	genome.wustl.edu	37	chr4	111539588	111539588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatgctcatggacgagataGagttgggtggggaaaacatg	13	8	15	5	1	1	2	1	0	0	2	1	5	1	4	0	4	2	2	0	4	3	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr4:111539588G>C	ENST00000354925.2	-	7	2352	c.647C>G	c.(646-648)tCt>tGt	p.S216C	PITX2_ENST00000394595.3_Silent_p.L147L|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000306732.3_Missense_Mutation_p.S223C|PITX2_ENST00000355080.5_Missense_Mutation_p.S170C|PITX2_ENST00000394598.2_Missense_Mutation_p.S216C	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	216					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GGACGAGATAGAGTTGGGTGG	0.542																																																	0													83	79	80					4																	111539588		2203	4300	6503	SO:0001583	missense	0			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.647C>G	4.37:g.111539588G>C	ENSP00000347004:p.Ser216Cys		A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom	p.S223C	ENST00000354925.2	37	c.668	CCDS3692.1	4	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081885	0.55861	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.93953	-2.97;-3.1;-3.24;-3.1;-3.32	5.25	4.41	0.53225	.	0.098954	0.64402	D	0.000001	D	0.96399	0.8825	M	0.82823	2.61	0.80722	D	1	D;P;D;D	0.89917	0.998;0.924;1.0;0.999	D;P;D;D	0.70935	0.95;0.521;0.971;0.967	D	0.96530	0.9392	10	0.56958	D	0.05	.	13.8796	0.63674	0.0732:0.0:0.9268:0.0	.	170;170;216;223	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	C	223;216;170;216;216	ENSP00000304169:S223C;ENSP00000378097:S216C;ENSP00000347192:S170C;ENSP00000347004:S216C;ENSP00000421454:S216C	ENSP00000304169:S223C	S	-	2	0	PITX2	111759037	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	9.657000	0.98554	1.446000	0.47643	0.563000	0.77884	TCT	PITX2	-	pirsf_Homeobox_Pitx/unc30	ENSG00000164093		0.542	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2	-	0	21	0	G			111539588	-1	tier1	-	no_errors	ENST00000306732	ensembl	human	known	74_37	missense	51.92	25	27	SNP	1.000	C	C	111539588	G	C	111539588	3	2	176	1	0	0	0	0	1	0	0	0	11994	942	33	5	310	5	PITX2	4	111539588	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	1155195	111539588	79614688	31	43935											
NAF1	92345	genome.wustl.edu	37	chr4	164061390	164061390	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cttactgttttagtttttctGtgaatatatattgagtgaaa	11	20	7	3	0	1	3	0	3	1	0	1	3	1	3	0	0	1	2	0	0	7	9			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr4:164061390G>T	ENST00000274054.2	-	5	1056	c.863C>A	c.(862-864)aCa>aAa	p.T288K	NAF1_ENST00000422287.2_Missense_Mutation_p.T288K|NAF1_ENST00000509434.1_Missense_Mutation_p.T16K	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	288					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TAGTTTTTCTGTGAATATATA	0.294																																																	0													85	91	89					4																	164061390		2203	4293	6496	SO:0001583	missense	0				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.863C>A	4.37:g.164061390G>T	ENSP00000274054:p.Thr288Lys		D3DP28|E9PAZ2	Missense_Mutation	SNP	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel	p.T288K	ENST00000274054.2	37	c.863	CCDS3803.1	4	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258941	0.80246	.	.	ENSG00000145414	ENST00000509434;ENST00000422287;ENST00000274054	T;T	0.43688	1.01;0.94	5.68	5.68	0.88126	.	0.311519	0.34531	N	0.003889	T	0.49966	0.1588	M	0.66297	2.02	0.45867	D	0.99872	P;P	0.40000	0.644;0.698	B;B	0.42361	0.241;0.385	T	0.49495	-0.8934	10	0.46703	T	0.11	-25.2985	18.7805	0.91930	0.0:0.0:1.0:0.0	.	288;288	E9PAZ2;Q96HR8	.;NAF1_HUMAN	K	16;288;288	ENSP00000408963:T288K;ENSP00000274054:T288K	ENSP00000274054:T288K	T	-	2	0	NAF1	164280840	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.442000	0.90317	2.693000	0.91896	0.655000	0.94253	ACA	NAF1	-	pfam_H/ACA_rnp_Gar1/Naf1	ENSG00000145414		0.294	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAF1	HGNC	protein_coding	OTTHUMT00000364684.2	-	0	38	0	G	NM_138386		164061390	-1	tier1	-	no_errors	ENST00000274054	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T	T	164061390	G	T	164061390	3	4	176	1	0	0	0	0	1	0	0	0	10178	1377	48	3	778	3	NAF1	4	164061390	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	52521802	164061390	27092886	32	43936											
TERT	7015	genome.wustl.edu	37	chr5	1272327	1272327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacgacggcatccctcagCgggctggtctcctgcaggtg	6	8	14	13	3	2	1	1	1	1	0	4	2	3	1	2	4	2	3	2	4	0	0	rs545260840		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr5:1272327C>T	ENST00000310581.5	-	7	2412	c.2355G>A	c.(2353-2355)ccG>ccA	p.P785P	TERT_ENST00000334602.6_Silent_p.P785P|TERT_ENST00000296820.5_Intron|TERT_ENST00000508104.2_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	785	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.		P -> L (in AA susceptibility). {ECO:0000269|PubMed:19760749}.		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)	p.P773P(2)|p.P785P(1)		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)	CATCCCTCAGCGGGCTGGTCT	0.642									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				c|||	1	0.000199681	0	0	5008	,	,		18214	0		0	False		,,,				2504	0.001																3	Substitution - coding silent(3)	kidney(2)|upper_aerodigestive_tract(1)											30	36	34					5																	1272327		2059	4180	6239	SO:0001819	synonymous_variant	0	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.2355G>A	5.37:g.1272327C>T			O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT	p.P785	ENST00000310581.5	37	c.2355	CCDS3861.2	5																																																																																			TERT	-	pfam_RVT,pfscan_RVT	ENSG00000164362		0.642	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	HGNC	protein_coding	OTTHUMT00000206729.2	-	0	19	0	C			1272327	-1	tier1	-	no_errors	ENST00000310581	ensembl	human	known	74_37	silent	28.95	54	22	SNP	0.000	T	T	1272327	C	T	1272327	2	4	176	1	0	0	0	0	0	0	0	1	15811	755	27	1		1	TERT	5	1272327	Silent	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09		1272327	179642933	33	43937											
GPR98	84059	genome.wustl.edu	37	chr5	90144561	90144561	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcaaggacactaggggattCagtcactttgctgaagtgac	11	9	12	9	1	2	2	2	2	0	0	2	4	2	4	0	3	1	2	0	3	3	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr5:90144561C>T	ENST00000405460.2	+	79	17223	c.17127C>T	c.(17125-17127)ttC>ttT	p.F5709F	GPR98_ENST00000425867.2_Silent_p.F1370F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5709					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)		CTAGGGGATTCAGTCACTTTG	0.393																																																	0													93	87	89					5																	90144561		1833	4087	5920	SO:0001819	synonymous_variant	0			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.17127C>T	5.37:g.90144561C>T			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.F5709	ENST00000405460.2	37	c.17127	CCDS47246.1	5																																																																																			GPR98	-	NULL	ENSG00000164199		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	34	0	C	NM_032119		90144561	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	silent	11.76	60	8	SNP	1.000	T	T	90144561	C	T	90144561	2	4	176	1	0	0	0	0	0	0	0	1	6748	825	29	3		3	GPR98	5	90144561	Silent	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	88872234	90144561	90770699	34	43938											
FAM71B	153745	genome.wustl.edu	37	chr5	156592876	156592876	+	Missense_Mutation	SNP	A	A	G	1	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	ccccttggcaaaccggccccAtctgacatgctgttcacaga	9	8	8	16	1	2	2	1	1	1	1	2	2	2	2	5	2	2	3	5	2	1	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr5:156592876A>G	ENST00000302938.4	-	1	399	c.304T>C	c.(304-306)Tgg>Cgg	p.W102R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	102						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)			AACCGGCCCCATCTGACATGC	0.547																																																	0													75	75	75					5																	156592876		2203	4300	6503	SO:0001583	missense	0				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.304T>C	5.37:g.156592876A>G	ENSP00000305596:p.Trp102Arg		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	pfam_DUF3699	p.W102R	ENST00000302938.4	37	c.304	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.509568	0.00984	.	.	ENSG00000170613	ENST00000302938	T	0.03413	3.94	4.57	-1.29	0.09288	.	2.473080	0.01230	N	0.008331	T	0.01124	0.0037	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41998	-0.9477	10	0.20046	T	0.44	5.0951	3.2574	0.06836	0.3762:0.0:0.3285:0.2953	.	102	Q8TC56	FA71B_HUMAN	R	102	ENSP00000305596:W102R	ENSP00000305596:W102R	W	-	1	0	FAM71B	156525454	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.322000	0.08007	-0.295000	0.08960	-1.117000	0.02048	TGG	FAM71B	-	NULL	ENSG00000170613		0.547	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	-	0	11	0	A	NM_130899		156592876	-1	tier1	-	no_errors	ENST00000302938	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.000	G	G	156592876	A	G	156592876	3	3	176	1	0	0	0	0	1	0	0	0	5630	217	8	4	1521	4	FAM71B	5	156592876	Missense_Mutation	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	66448315	156592876	24322384	35	43939											
GABRA1	2554	genome.wustl.edu	37	chr5	161317917	161317917	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcaggagaatatgttgtTatgaccactcatttccactt	10	16	6	9	0	2	2	2	1	1	1	4	3	3	2	2	1	0	2	2	1	3	6			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr5:161317917T>G	ENST00000428797.2	+	9	1072	c.717T>G	c.(715-717)gtT>gtG	p.V239V	GABRA1_ENST00000393943.4_Silent_p.V239V|GABRA1_ENST00000420560.1_Silent_p.V239V|GABRA1_ENST00000437025.2_Silent_p.V239V|GABRA1_ENST00000444819.1_Silent_p.V239V|GABRA1_ENST00000023897.6_Silent_p.V239V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	239					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)	AATATGTTGTTATGACCACTC	0.368																																																	0													132	124	127					5																	161317917		2203	4300	6503	SO:0001819	synonymous_variant	0				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.717T>G	5.37:g.161317917T>G			D3DQK6|Q8N629	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V239	ENST00000428797.2	37	c.717	CCDS4357.1	5																																																																																			GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000022355		0.368	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	-	0	21	0	T	NM_000806.5		161317917	1	tier1	-	no_errors	ENST00000023897	ensembl	human	known	74_37	silent	43.14	29	22	SNP	0.989	G	G	161317917	T	G	161317917	2	3	176	1	0	0	0	0	0	0	0	1	6184	1741	61	4		4	GABRA1	5	161317917	Silent	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09	4725041	161317917	19597343	36	43940											
CCHCR1	54535	genome.wustl.edu	37	chr6	31122453	31122453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcctctagcctcatcttCtgctgcagcgaggtctcccg	4	11	11	15	2	5	0	1	0	4	0	6	1	5	0	3	2	4	2	3	2	1	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:31122453C>G	ENST00000376266.5	-	4	476	c.354G>C	c.(352-354)caG>caC	p.Q118H	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.Q207H|CCHCR1_ENST00000451521.2_Missense_Mutation_p.Q171H|CCHCR1_ENST00000396263.2_Missense_Mutation_p.Q118H	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	118					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						GCCTCATCTTCTGCTGCAGCG	0.682																																																	0													59	72	67					6																	31122453		1507	2709	4216	SO:0001583	missense	0			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.354G>C	6.37:g.31122453C>G	ENSP00000365442:p.Gln118His		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	pfam_HCR	p.Q207H	ENST00000376266.5	37	c.621	CCDS4695.1	6	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886634	0.72410	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521;ENST00000448141;ENST00000508683;ENST00000448162;ENST00000513222;ENST00000503420;ENST00000515274;ENST00000507751;ENST00000455279;ENST00000412245;ENST00000503934;ENST00000426967;ENST00000502557	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43	5.33	4.46	0.54185	.	0.181162	0.35936	N	0.002898	T	0.12689	0.0308	M	0.73598	2.24	0.34808	D	0.737429	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.999;0.998	T	0.02581	-1.1138	10	0.45353	T	0.12	-25.7655	9.973	0.41765	0.0:0.906:0.0:0.094	.	118;118;118;171;207	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	H	207;118;118;118;171;82;82;118;92;82;118;118;118;144;118;216;118	ENSP00000379566:Q207H;ENSP00000365442:Q118H;ENSP00000379561:Q118H;ENSP00000401039:Q171H;ENSP00000414323:Q82H;ENSP00000421393:Q82H;ENSP00000390027:Q118H;ENSP00000425682:Q92H;ENSP00000421992:Q82H;ENSP00000420941:Q118H;ENSP00000398715:Q118H;ENSP00000425595:Q118H;ENSP00000402432:Q216H;ENSP00000425377:Q118H	ENSP00000365442:Q118H	Q	-	3	2	CCHCR1	31230432	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.650000	0.37292	1.266000	0.44231	0.638000	0.83543	CAG	CCHCR1	-	pfam_HCR	ENSG00000204536		0.682	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	HGNC	protein_coding	OTTHUMT00000076190.5	-	0	8	0	C	NM_019052		31122453	-1	tier1	-	no_errors	ENST00000396268	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	G	G	31122453	C	G	31122453	3	3	176	1	0	0	0	0	1	0	0	0	2884	912	32	5	2054	5	CCHCR1	6	31122453	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09		31122453	139992614	37	43941											
DNAH8	1769	genome.wustl.edu	37	chr6	38854597	38854597	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agattgtgcgacagatgatgGaaatggaaggaatgtacagc	15	8	14	4	1	0	3	0	1	0	2	0	7	0	6	0	3	3	1	0	3	4	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:38854597G>T	ENST00000359357.3	+	55	7893	c.7639G>T	c.(7639-7641)Gaa>Taa	p.E2547*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E2511*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E2764*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2547	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						ACAGATGATGGAAATGGAAGG	0.388																																																	0													145	133	137					6																	38854597		2203	4300	6503	SO:0001587	stop_gained	0			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.7639G>T	6.37:g.38854597G>T	ENSP00000352312:p.Glu2547*		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E2547*	ENST00000359357.3	37	c.7639		6	.	.	.	.	.	.	.	.	.	.	G	51	17.662218	0.99891	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.79	5.79	0.91817	.	0.051512	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0366	0.97561	0.0:0.0:1.0:0.0	.	.	.	.	X	2752;2752;2547;2511	.	ENSP00000333363:E2752X	E	+	1	0	DNAH8	38962575	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.750000	0.98875	2.736000	0.93811	0.561000	0.74099	GAA	DNAH8	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000124721		0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0	12	0	G	NM_001206927		38854597	1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	nonsense	25.00	39	13	SNP	1.000	T	T	38854597	G	T	38854597	4	4	176	1	0	0	0	0	0	1	0	0	4621	1175	41	3	7849	3	DNAH8	6	38854597	Nonsense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	7732144	38854597	132260470	38	43942											
HSP90AB1	3326	genome.wustl.edu	37	chr6	44221086	44221086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccagacccactccaaccGcatctatcgcatgatcaagc	11	7	5	18	2	2	2	1	1	1	1	5	2	4	2	5	0	2	2	5	0	3	1	rs199811663		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:44221086G>A	ENST00000371554.1	+	11	2250	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R679H|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R679H|SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	679					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)			CACTCCAACCGCATCTATCGC	0.483																																																	0													289	291	290					6																	44221086		2203	4300	6503	SO:0001583	missense	0			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.2036G>A	6.37:g.44221086G>A	ENSP00000360609:p.Arg679His		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N	p.R679H	ENST00000371554.1	37	c.2036	CCDS4909.1	6	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970341	0.92919	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.12984	2.63;2.63;2.63	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000001	T	0.28400	0.0702	H	0.97540	4.025	0.80722	D	1	B;P;B	0.35628	0.108;0.513;0.177	B;B;B	0.39258	0.295;0.227;0.112	T	0.50030	-0.8875	10	0.87932	D	0	-8.3895	17.6805	0.88241	0.0:0.0:1.0:0.0	.	641;669;679	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	H	679	ENSP00000360709:R679H;ENSP00000325875:R679H;ENSP00000360609:R679H	ENSP00000325875:R679H	R	+	2	0	HSP90AB1	44329064	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.817000	0.99352	2.265000	0.75225	0.508000	0.49915	CGC	HSP90AB1	-	pfam_Hsp90_fam,pirsf_Hsp90_fam	ENSG00000096384		0.483	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	HGNC	protein_coding	OTTHUMT00000040730.1	-	0	30	0	G	NM_007355		44221086	1	tier1	rs199811663	no_errors	ENST00000353801	ensembl	human	known	74_37	missense	17.65	42	9	SNP	1.000	A	A	44221086	G	A	44221086	3	1	176	1	0	0	0	0	1	0	0	0	7429	1087	38	1	2074	1	HSP90AB1	6	44221086	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	5366489	44221086	126893981	39	43943											
UBE2CBP	90025	genome.wustl.edu	37	chr6	83732251	83732251	+	Missense_Mutation	SNP	T	T	C	0	1	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	aggagagctgcaccagacacTgggcgatcacgctctggaca	11	5	13	12	2	2	2	1	0	1	2	2	5	2	3	1	3	2	3	1	3	0	0			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:83732251T>C	ENST00000369747.3	-	7	889	c.767A>G	c.(766-768)cAg>cGg	p.Q256R		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	256	Interaction with UBE2C.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										CACCAGACACTGGGCGATCAC	0.383																																																	0													65	64	64					6																	83732251		2203	4300	6503	SO:0001583	missense	0			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.767A>G	6.37:g.83732251T>C	ENSP00000358762:p.Gln256Arg		B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	pfam_UBQ-conj_enz_E2-bd_prot	p.Q256R	ENST00000369747.3	37	c.767	CCDS34491.1	6	.	.	.	.	.	.	.	.	.	.	T	2.597	-0.293798	0.05568	.	.	ENSG00000118420	ENST00000369747	T	0.30182	1.54	5.72	1.61	0.23674	.	0.584513	0.19711	N	0.107801	T	0.08714	0.0216	L	0.43923	1.385	0.80722	D	1	B;B	0.12630	0.004;0.006	B;B	0.18263	0.021;0.015	T	0.17349	-1.0372	10	0.12103	T	0.63	-16.5482	8.4105	0.32640	0.0:0.2431:0.0:0.7569	.	235;256	C9JRS1;Q7Z6J8	.;UB2CB_HUMAN	R	256	ENSP00000358762:Q256R	ENSP00000358762:Q256R	Q	-	2	0	UBE2CBP	83788970	1.000000	0.71417	0.867000	0.34043	0.176000	0.22953	0.673000	0.25203	0.042000	0.15717	0.460000	0.39030	CAG	UBE3D	-	pfam_UBQ-conj_enz_E2-bd_prot	ENSG00000118420		0.383	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3D	HGNC	protein_coding	OTTHUMT00000041347.7	-	0	23	0	T	NM_198920		83732251	-1	tier1	-	no_errors	ENST00000369747	ensembl	human	known	74_37	missense	29.58	50	21	SNP	0.997	C	C	83732251	T	C	83732251	3	2	176	1	0	0	0	0	1	0	0	0	16896	1580	55	4	418	4	UBE2CBP	6	83732251	Missense_Mutation	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09	39511165	83732251	87382816	40	43944											
KLHL32	114792	genome.wustl.edu	37	chr6	97578788	97578788	+	Silent	SNP	T	T	C	0	1	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	gattcttacaacatagacacTgaccagtggacacgttgtaa	14	10	8	9	1	1	2	0	1	1	1	1	4	1	3	1	1	2	2	1	1	4	5			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:97578788T>C	ENST00000369261.4	+	9	1932	c.1569T>C	c.(1567-1569)acT>acC	p.T523T	KLHL32_ENST00000536676.1_Silent_p.T487T|KLHL32_ENST00000544166.1_Silent_p.T79T|KLHL32_ENST00000539200.1_Silent_p.T454T	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	523										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		ACATAGACACTGACCAGTGGA	0.403																																																	0													156	145	149					6																	97578788		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1569T>C	6.37:g.97578788T>C			B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T523	ENST00000369261.4	37	c.1569	CCDS5038.1	6																																																																																			KLHL32	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000186231		0.403	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL32	HGNC	protein_coding	OTTHUMT00000041570.1	-	0	30	0	T	NM_052904		97578788	1	tier1	-	no_errors	ENST00000369261	ensembl	human	known	74_37	silent	20.69	69	18	SNP	0.996	C	C	97578788	T	C	97578788	2	2	176	1	0	0	0	0	0	0	0	1	8413	1567	55	4		4	KLHL32	6	97578788	Silent	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09	13846537	97578788	73536279	41	43945											
C6orf58	352999	genome.wustl.edu	37	chr6	127911258	127911258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattattctaaagcagaagCgcattttgagagaagttggg	13	13	11	4	1	1	3	0	1	1	2	1	4	1	3	0	1	2	3	0	1	6	7			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:127911258C>T	ENST00000329722.7	+	5	713	c.701C>T	c.(700-702)gCg>gTg	p.A234V		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	234						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)		AAAGCAGAAGCGCATTTTGAG	0.368																																																	0													102	105	104					6																	127911258		2203	4300	6503	SO:0001583	missense	0			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.701C>T	6.37:g.127911258C>T	ENSP00000328069:p.Ala234Val		B4E1I0|Q5VUP2	Missense_Mutation	SNP	pfam_DUF781	p.A234V	ENST00000329722.7	37	c.701	CCDS34533.1	6	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711850	0.30322	.	.	ENSG00000184530	ENST00000329722	T	0.37411	1.2	5.01	1.07	0.20283	.	0.890465	0.09882	N	0.743527	T	0.10121	0.0248	L	0.60957	1.885	0.09310	N	1	P	0.44877	0.845	B	0.33121	0.158	T	0.18555	-1.0333	10	0.27082	T	0.32	-3.2288	3.9529	0.09377	0.328:0.4916:0.0:0.1804	.	234	Q6P5S2	CF058_HUMAN	V	234	ENSP00000328069:A234V	ENSP00000328069:A234V	A	+	2	0	C6orf58	127952951	0.001000	0.12720	0.135000	0.22099	0.404000	0.30871	-1.030000	0.03581	0.007000	0.14760	-0.182000	0.12963	GCG	C6orf58	-	pfam_DUF781	ENSG00000184530		0.368	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf58	HGNC	protein_coding	OTTHUMT00000042152.1	-	0	34	0	C	NM_001010905		127911258	1	tier1	-	no_errors	ENST00000329722	ensembl	human	known	74_37	missense	11.90	74	10	SNP	0.156	T	T	127911258	C	T	127911258	3	4	176	1	0	0	0	0	1	0	0	0	2374	768	27	1	719	1	C6orf58	6	127911258	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	30332470	127911258	43203809	42	43946											
ARID1B	57492	genome.wustl.edu	37	chr6	157527315	157527315	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagttgtctggatttctCgaacttttagtcgagtactt	7	17	8	9	2	2	0	0	0	2	0	5	3	3	1	1	1	2	2	1	1	3	6			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:157527315C>T	ENST00000350026.5	+	19	5002	c.5001C>T	c.(4999-5001)ctC>ctT	p.L1667L	ARID1B_ENST00000346085.5_Silent_p.L1680L|ARID1B_ENST00000275248.4_Silent_p.L1662L|ARID1B_ENST00000367148.1_Silent_p.L1720L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1667					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGGATTTCTCGAACTTTTAG	0.418																																																	0													193	227	216					6																	157527315		2203	4296	6499	SO:0001819	synonymous_variant	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5001C>T	6.37:g.157527315C>T			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L1720	ENST00000350026.5	37	c.5160	CCDS5251.2	6																																																																																			ARID1B	-	NULL	ENSG00000049618		0.418	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0	23	0	C	NM_020732		157527315	1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	silent	18.92	30	7	SNP	0.020	T	T	157527315	C	T	157527315	2	4	176	1	0	0	0	0	0	0	0	1	914	871	31	1		1	ARID1B	6	157527315	Silent	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	29616057	157527315	13587752	43	43947											
SLC22A1	6580	genome.wustl.edu	37	chr6	160577066	160577066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagagaccaagggggtcGctttgccagagaccatgaag	11	7	13	10	1	0	3	0	1	0	2	2	5	1	3	4	2	1	1	4	2	2	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:160577066G>A	ENST00000366963.4	+	10	1705	c.1558G>A	c.(1558-1560)Gct>Act	p.A520T	SLC22A1_ENST00000457470.2_Intron|SLC22A1_ENST00000324965.4_Missense_Mutation_p.R482H	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	520					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)	p.A520T(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CAAGGGGGTCGCTTTGCCAGA	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											153	150	151					6																	160577066		2203	4300	6503	SO:0001583	missense	0			U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"Solute carriers"	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1558G>A	6.37:g.160577066G>A	ENSP00000355930:p.Ala520Thr		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A520T	ENST00000366963.4	37	c.1558	CCDS5274.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.10|17.10	3.304046|3.304046	0.60305|0.60305	.|.	.|.	ENSG00000175003|ENSG00000175003	ENST00000366963|ENST00000324965	T|T	0.71341|0.74842	-0.56|-0.88	4.32|4.32	0.759|0.759	0.18438|0.18438	Major facilitator superfamily domain, general substrate transporter (1);|.	0.302038|.	0.31370|.	N|.	0.007762|.	T|T	0.41534|0.41534	0.1163|0.1163	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.21606|0.12013	0.058|0.005	B|B	0.21917|0.04013	0.037|0.001	T|T	0.41910|0.41910	-0.9482|-0.9482	9|8	0.27785|0.72032	T|D	0.31|0.01	.|.	5.358|5.358	0.16071|0.16071	0.4868:0.0:0.5132:0.0|0.4868:0.0:0.5132:0.0	.|.	520|482	O15245|O15245-2	S22A1_HUMAN|.	T|H	520|482	ENSP00000355930:A520T|ENSP00000318103:R482H	ENSP00000355930:A520T|ENSP00000318103:R482H	A|R	+|+	1|2	0|0	SLC22A1|SLC22A1	160497056|160497056	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.989000|0.989000	0.77384|0.77384	-0.575000|-0.575000	0.05861|0.05861	0.330000|0.330000	0.23485|0.23485	0.655000|0.655000	0.94253|0.94253	GCT|CGC	SLC22A1	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Orgcat_transp	ENSG00000175003		0.582	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A1	HGNC	protein_coding	OTTHUMT00000042938.2	-	0	25	0	G			160577066	1	tier1	-	no_errors	ENST00000366963	ensembl	human	known	74_37	missense	30.88	47	21	SNP	0.001	A	A	160577066	G	A	160577066	3	1	176	1	0	0	0	0	1	0	0	0	14485	1087	38	1	1596	1	SLC22A1	6	160577066	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	3049751	160577066	10538001	44	43948											
SEMA3C	10512	genome.wustl.edu	37	chr7	80427447	80427447	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaattctgccctgataggaAatcagctgatgattgggccc	10	10	12	9	0	2	3	1	3	1	0	2	5	2	5	2	3	2	1	2	3	3	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr7:80427447A>G	ENST00000265361.3	-	11	1653	c.1092T>C	c.(1090-1092)atT>atC	p.I364I	SEMA3C_ENST00000536800.1_Silent_p.I216I|SEMA3C_ENST00000419255.2_Silent_p.I364I|SEMA3C_ENST00000544525.1_Silent_p.I382I	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	364	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCTGATAGGAAATCAGCTGAT	0.393																																																	0													66	66	66					7																	80427447		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1092T>C	7.37:g.80427447A>G			B4DRL8	Silent	SNP	pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.I382	ENST00000265361.3	37	c.1146	CCDS5596.1	7																																																																																			SEMA3C	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000075223		0.393	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3C	HGNC	protein_coding	OTTHUMT00000253279.1	-	0	35	0	A	NM_006379		80427447	-1	tier1	-	no_errors	ENST00000544525	ensembl	human	known	74_37	silent	45.10	56	46	SNP	1.000	G	G	80427447	A	G	80427447	2	3	176	1	0	0	0	0	0	0	0	1	14071	10	1	4		4	SEMA3C	7	80427447	Silent	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09		80427447	78711216	45	43949											
PRKAR2B	5577	genome.wustl.edu	37	chr7	106797765	106797765	+	Frame_Shift_Del	DEL	T	T	-																															gccattgggactgtcaaatgTttaggtagggattgcaacag																										TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr7:106797765delT	ENST00000265717.4	+	10	1378	c.1119delT	c.(1117-1119)tgtfs	p.C373fs		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	373					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CTGTCAAATGTTTAGGTAGGG	0.473																																																	0													89	73	78					7																	106797765		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.1119delT	7.37:g.106797765delT	ENSP00000265717:p.Cys373fs		A4D0R9	Frame_Shift_Del	DEL	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.L374fs	ENST00000265717.4	37	c.1119	CCDS5740.1	7																																																																																			PRKAR2B	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom	ENSG00000005249		0.473	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2B	HGNC	protein_coding	OTTHUMT00000268386.1		0	19	0	T			106797765	1	tier1		no_errors	ENST00000265717	ensembl	human	known	74_37	frame_shift_del	18.75	52	12	DEL	1.000	-	-	106797765	T	-	106797765	7	5	176	1	0	1	0	1	0	0	0	0	12548	1731	60	0	1157	0	PRKAR2B	7	106797765	Frame_Shift_Del	DEL	T	TCGA-VR-AA7I-01A-11D-A403-09	26370318	106797765	52340898	46	43950											
PARP12	64761	genome.wustl.edu	37	chr7	139746766	139746766	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	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	tttgcctctatccaagaattGccatcgatacggcaaatgga	12	11	8	10	2	1	1	0	0	1	1	3	3	2	2	3	2	3	1	3	2	5	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr7:139746766G>A	ENST00000263549.3	-	5	1777	c.904C>T	c.(904-906)Caa>Taa	p.Q302*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	302	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TCCAAGAATTGCCATCGATAC	0.398																																																	0													175	151	159					7																	139746766		2203	4300	6503	SO:0001587	stop_gained	0			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.904C>T	7.37:g.139746766G>A	ENSP00000263549:p.Gln302*		Q9H610|Q9NP36|Q9NTI3	Nonsense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.Q302*	ENST00000263549.3	37	c.904	CCDS5857.1	7	.	.	.	.	.	.	.	.	.	.	G	38	6.928552	0.97940	.	.	ENSG00000059378	ENST00000263549	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8807	0.96899	0.0:0.0:1.0:0.0	.	.	.	.	X	302	.	ENSP00000263549:Q302X	Q	-	1	0	PARP12	139393235	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.533000	0.60615	2.782000	0.95742	0.549000	0.68633	CAA	PARP12	-	pfscan_WWE-dom	ENSG00000059378		0.398	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP12	HGNC	protein_coding	OTTHUMT00000348413.1	-	0	41	0	G	NM_022750		139746766	-1	tier1	-	no_errors	ENST00000263549	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	A	A	139746766	G	A	139746766	4	1	176	1	0	0	0	0	0	1	0	0	11496	1328	46	3	1233	3	PARP12	7	139746766	Nonsense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	32949001	139746766	19391897	47	43951											
POLB	5423	genome.wustl.edu	37	chr8	42214742	42214742	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagatgttacaaatgcaaGtaagatgtgtcaaattatat	18	12	8	3	0	1	2	1	0	0	2	1	3	1	2	0	0	2	3	0	0	8	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr8:42214742G>T	ENST00000265421.4	+	8	647		c.e8+1		POLB_ENST00000538005.1_Splice_Site	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta						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)	ACAAATGCAAGTAAGATGTGT	0.289								DNA polymerases (catalytic subunits)																																									0													71	77	75					8																	42214742		2203	4297	6500	SO:0001630	splice_region_variant	0				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.477+1G>T	8.37:g.42214742G>T			B2RC78|Q3KP48|Q6FI34	Splice_Site	SNP	-	e8+1	ENST00000265421.4	37	c.477+1	CCDS6129.1	8	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980019	0.74474	.	.	ENSG00000070501	ENST00000265421;ENST00000520008;ENST00000518925;ENST00000538005;ENST00000521290;ENST00000518579	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5951	0.88009	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLB	42333899	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.881000	0.92415	2.748000	0.94277	0.655000	0.94253	.	POLB	-	-	ENSG00000070501		0.289	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLB	HGNC	protein_coding	OTTHUMT00000377242.1	-	0	47	0	G	NM_002690	Intron	42214742	1	tier1	-	no_errors	ENST00000265421	ensembl	human	known	74_37	splice_site	5.00	76	4	SNP	1.000	T	T	42214742	G	T	42214742	5	4	176	1	0	0	0	0	0	0	1	0	12228	1043	36	3	508	3	POLB	8	42214742	Splice_Site	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		42214742	104149280	48	43952											
CSMD3	114788	genome.wustl.edu	37	chr8	113314147	113314147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccatatgaagtttgagttCcaatcttatttccatttgga	11	16	7	7	0	1	2	0	2	1	0	3	3	3	3	3	1	1	2	3	1	4	6			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr8:113314147C>T	ENST00000297405.5	-	53	8559	c.8315G>A	c.(8314-8316)gGa>gAa	p.G2772E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2732E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2702E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2603E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2772	Sushi 17. {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						AGTTTGAGTTCCAATCTTATT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													119	119	119					8																	113314147		2203	4300	6503	SO:0001583	missense	0			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.8315G>A	8.37:g.113314147C>T	ENSP00000297405:p.Gly2772Glu		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G2772E	ENST00000297405.5	37	c.8315	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935672	0.92458	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.62	5.62	0.85841	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.82884	0.5134	M	0.87328	2.875	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	0.83729	0.0197	10	0.52906	T	0.07	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	2603;2772;2732	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	2732;2772;2042;2603;2702	ENSP00000345799:G2732E;ENSP00000297405:G2772E;ENSP00000341558:G2042E;ENSP00000412263:G2603E;ENSP00000343124:G2702E	ENSP00000297405:G2772E	G	-	2	0	CSMD3	113383323	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.666000	0.83877	2.809000	0.96659	0.655000	0.94253	GGA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	18	0	C	NM_052900		113314147	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	16.90	59	12	SNP	1.000	T	T	113314147	C	T	113314147	3	4	176	1	0	0	0	0	1	0	0	0	3955	855	30	3	2884	3	CSMD3	8	113314147	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	71099405	113314147	33049875	49	43953											
KLHL38	340359	genome.wustl.edu	37	chr8	124658211	124658211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctccggtctttcatgtccGcacatttgacaaatttgttg	7	16	7	11	2	2	1	1	1	1	0	5	1	5	1	3	1	0	2	3	1	1	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr8:124658211G>A	ENST00000325995.7	-	3	1537	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	505								p.A505V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TTTCATGTCCGCACATTTGAC	0.512																																																	1	Substitution - Missense(1)	central_nervous_system(1)											81	87	85					8																	124658211		2086	4229	6315	SO:0001583	missense	0				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.1514C>T	8.37:g.124658211G>A	ENSP00000321475:p.Ala505Val		A0PK12	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A505V	ENST00000325995.7	37	c.1514	CCDS43766.1	8	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213145	0.79352	.	.	ENSG00000175946	ENST00000325995	T	0.80304	-1.36	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.225469	0.45126	D	0.000395	D	0.85186	0.5639	M	0.81942	2.565	0.48762	D	0.9997	D	0.57899	0.981	P	0.47941	0.562	D	0.86412	0.1749	10	0.44086	T	0.13	.	18.6933	0.91592	0.0:0.0:1.0:0.0	.	505	Q2WGJ6	KLH38_HUMAN	V	505	ENSP00000321475:A505V	ENSP00000321475:A505V	A	-	2	0	KLHL38	124727392	1.000000	0.71417	0.984000	0.44739	0.752000	0.42762	4.329000	0.59260	2.426000	0.82243	0.455000	0.32223	GCG	KLHL38	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000175946		0.512	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	-	0	26	0	G			124658211	-1	tier1	-	no_errors	ENST00000325995	ensembl	human	known	74_37	missense	21.43	55	15	SNP	0.999	A	A	124658211	G	A	124658211	3	1	176	1	0	0	0	0	1	0	0	0	8417	1087	38	1	235	1	KLHL38	8	124658211	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	11344064	124658211	21705811	50	43954											
STOML2	30968	genome.wustl.edu	37	chr9	35101143	35101143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcctgacctgctgcctgaTttatctgttcagccttttct	4	18	6	13	0	4	2	1	2	3	0	5	2	4	2	4	0	3	2	4	0	1	5			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:35101143T>C	ENST00000356493.5	-	7	775	c.713A>G	c.(712-714)aAt>aGt	p.N238S	STOML2_ENST00000452248.2_Missense_Mutation_p.N193S|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	238					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGCTGCCTGATTTATCTGTTC	0.557																																																	0													103	104	104					9																	35101143		2203	4300	6503	SO:0001583	missense	0			AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.713A>G	9.37:g.35101143T>C	ENSP00000348886:p.Asn238Ser		B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.N238S	ENST00000356493.5	37	c.713	CCDS6577.1	9	.	.	.	.	.	.	.	.	.	.	T	21.3	4.131945	0.77662	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98044	-3.51;-4.68	5.26	5.26	0.73747	.	0.048533	0.85682	D	0.000000	D	0.98985	0.9654	M	0.93978	3.48	0.80722	D	1	P;D	0.76494	0.95;0.999	P;D	0.74674	0.908;0.984	D	0.99572	1.0971	10	0.72032	D	0.01	-12.1478	15.3352	0.74247	0.0:0.0:0.0:1.0	.	193;238	B4E1K7;Q9UJZ1	.;STML2_HUMAN	S	238;193	ENSP00000348886:N238S;ENSP00000395743:N193S	ENSP00000348886:N238S	N	-	2	0	STOML2	35091143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.839000	0.86812	2.211000	0.71520	0.460000	0.39030	AAT	STOML2	-	NULL	ENSG00000165283		0.557	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML2	HGNC	protein_coding	OTTHUMT00000052273.1	-	0	20	0	T	NM_013442		35101143	-1	tier1	-	no_errors	ENST00000356493	ensembl	human	known	74_37	missense	30.00	14	6	SNP	1.000	C	C	35101143	T	C	35101143	3	2	176	1	0	0	0	0	1	0	0	0	15361	1493	52	4	373	4	STOML2	9	35101143	Missense_Mutation	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09		35101143	106112288	51	43955											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39073896	39073899	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															ttagagctgtcctagcactcTtctttttttgagacttttga																										TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	TTCT	TTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:39073896_39073899delTTCT	ENST00000297668.6	-	24	3928_3931	c.3855_3858delAGAA	c.(3853-3858)aaagaafs	p.KE1285fs	CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.KE1204fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1285					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)		CCTAGCACTCTTCTTTTTTTGAGA	0.426																																																	0																																										SO:0001589	frameshift_variant	0			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.3855_3858delAGAA	9.37:g.39073896_39073899delTTCT	ENSP00000297668:p.Lys1285fs		B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E1286fs	ENST00000297668.6	37	c.3858_3855	CCDS6616.1	9																																																																																			CNTNAP3	-	NULL	ENSG00000106714		0.426	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1		0	8	0	TTCT	NM_033655		39073899	-1	tier1		no_errors	ENST00000297668	ensembl	human	known	74_37	frame_shift_del	42.86	16	12	DEL	0.987:0.983:0.986:0.966	-	-	39073899	TTCT	-	39073896	7	5	176	1	0	1	0	1	0	0	0	0	3655	1606	56	0	12	0	CNTNAP3	9	39073896	Frame_Shift_Del	DEL	TTCT	TCGA-VR-AA7I-01A-11D-A403-09	3972753	39073896	102139535	52	43956											
BICD2	23299	genome.wustl.edu	37	chr9	95481107	95481107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagtgaggagccaggcgagGggctgctgtcccccgtccca	6	5	16	14	2	0	1	0	1	0	0	2	3	2	2	4	4	2	3	4	4	0	0			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:95481107G>A	ENST00000375512.3	-	5	1887	c.1820C>T	c.(1819-1821)cCc>cTc	p.P607L	BICD2_ENST00000356884.6_Missense_Mutation_p.P607L	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	607					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						GCCAGGCGAGGGGCTGCTGTC	0.667																																																	0													29	27	28					9																	95481107		2200	4296	6496	SO:0001583	missense	0			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.1820C>T	9.37:g.95481107G>A	ENSP00000364662:p.Pro607Leu		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.P607L	ENST00000375512.3	37	c.1820	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208431	0.39003	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.43688	0.94;0.94	5.18	4.28	0.50868	.	0.053657	0.85682	N	0.000000	T	0.39009	0.1062	L	0.54323	1.7	0.54753	D	0.999985	P;P	0.52316	0.952;0.896	B;B	0.43838	0.306;0.433	T	0.16988	-1.0384	10	0.25106	T	0.35	-37.2993	11.8391	0.52344	0.0864:0.0:0.9136:0.0	.	607;607	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	L	607	ENSP00000349351:P607L;ENSP00000364662:P607L	ENSP00000349351:P607L	P	-	2	0	BICD2	94520928	1.000000	0.71417	0.890000	0.34922	0.180000	0.23129	6.173000	0.71937	1.333000	0.45449	0.561000	0.74099	CCC	BICD2	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000185963		0.667	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	-	0	12	0	G	NM_015250		95481107	-1	tier1	-	no_errors	ENST00000356884	ensembl	human	known	74_37	missense	55.56	8	10	SNP	1.000	A	A	95481107	G	A	95481107	3	1	176	1	0	0	0	0	1	0	0	0	1431	1232	43	3	769	3	BICD2	9	95481107	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	56407211	95481107	45732324	53	43957											
COL15A1	1306	genome.wustl.edu	37	chr9	101818559	101818559	+	Silent	SNP	A	A	C	1	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	cagggccaaaaaggggagacAgtcgttgggccccaaggacc	12	3	15	11	1	0	1	0	0	0	1	1	3	0	2	4	5	0	1	4	5	3	1			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:101818559A>C	ENST00000375001.3	+	35	3633	c.3210A>C	c.(3208-3210)acA>acC	p.T1070T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1070	Triple-helical region 8 (COL8).				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)				AAGGGGAGACAGTCGTTGGGC	0.567																																																	0													81	80	80					9																	101818559		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3210A>C	9.37:g.101818559A>C			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.T1070	ENST00000375001.3	37	c.3210	CCDS35081.1	9																																																																																			COL15A1	-	NULL	ENSG00000204291		0.567	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	-	0	17	0	A	NM_001855		101818559	1	tier1	-	no_errors	ENST00000375001	ensembl	human	known	74_37	silent	62.50	12	20	SNP	0.000	C	C	101818559	A	C	101818559	2	2	176	1	0	0	0	0	0	0	0	1	3679	175	7	4		4	COL15A1	9	101818559	Silent	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	6337452	101818559	39394872	54	43958											
SLC44A1	23446	genome.wustl.edu	37	chr9	108147756	108147756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagctggtaagggaggcgtCgctgattccagagagctaaa	12	7	15	7	2	0	2	0	1	0	1	2	5	1	3	1	3	2	4	1	3	4	3	rs151307942		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:108147756C>T	ENST00000374720.3	+	15	2170	c.1923C>T	c.(1921-1923)gtC>gtT	p.V641V	SLC44A1_ENST00000374724.1_Silent_p.V641V|SLC44A1_ENST00000343170.7_Silent_p.V433V|SLC44A1_ENST00000374723.1_Silent_p.V641V	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	641					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGGGAGGCGTCGCTGATTCCA	0.463																																																	0								C		1,4395		0,1,2197	53	50	51		1923	-4.8	0.3	9	dbSNP_134	51	4,8590		0,4,4293	no	coding-synonymous	SLC44A1	NM_080546.3		0,5,6490	TT,TC,CC		0.0465,0.0227,0.0385		641/658	108147756	5,12985	2198	4297	6495	SO:0001819	synonymous_variant	0			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1923C>T	9.37:g.108147756C>T			A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	pfam_Choline_transptr-like	p.V641	ENST00000374720.3	37	c.1923	CCDS6763.1	9																																																																																			SLC44A1	-	NULL	ENSG00000070214		0.463	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	HGNC	protein_coding	OTTHUMT00000053500.1	-	0	18	0	C	NM_080546		108147756	1	tier1	rs151307942	no_errors	ENST00000374720	ensembl	human	known	74_37	silent	59.02	25	36	SNP	0.135	T	T	108147756	C	T	108147756	2	4	176	1	0	0	0	0	0	0	0	1	14680	871	31	1		1	SLC44A1	9	108147756	Silent	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	6329197	108147756	33065675	55	43959											
DHX32	55760	genome.wustl.edu	37	chr10	127548228	127548228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacccgagtggtgaatttCaaagataaggcgtaaaatag	15	9	10	7	2	2	2	2	1	0	1	2	3	2	2	1	2	0	1	1	2	6	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr10:127548228C>T	ENST00000284690.3	-	3	1283	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	DHX32_ENST00000284688.6_Missense_Mutation_p.E265K	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	265						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGGTGAATTTCAAAGATAAGG	0.393																																																	0													69	74	72					10																	127548228		2203	4300	6503	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.793G>A	10.37:g.127548228C>T	ENSP00000284690:p.Glu265Lys		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.E265K	ENST00000284690.3	37	c.793	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952086	0.92660	.	.	ENSG00000089876	ENST00000284690;ENST00000284688	T;T	0.13538	2.58;2.58	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	M	0.77406	2.37	0.35447	D	0.79535	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.54853	-0.8231	10	0.87932	D	0	-25.4596	17.1401	0.86750	0.0:1.0:0.0:0.0	.	265;265	Q7L7V1-2;Q7L7V1	.;DHX32_HUMAN	K	265	ENSP00000284690:E265K;ENSP00000284688:E265K	ENSP00000284688:E265K	E	-	1	0	DHX32	127538218	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.415000	0.52700	2.512000	0.84698	0.655000	0.94253	GAA	DHX32	-	superfamily_P-loop_NTPase	ENSG00000089876		0.393	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2	-	0	38	0	C	NM_018180		127548228	-1	tier1	-	no_errors	ENST00000284690	ensembl	human	known	74_37	missense	9.59	66	7	SNP	1.000	T	T	127548228	C	T	127548228	3	4	176	1	0	0	0	0	1	0	0	0	4519	835	29	3	1474	3	DHX32	10	127548228	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09		127548228	7986519	56	43960											
OR51L1	119682	genome.wustl.edu	37	chr11	5020730	5020730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acactatcactactgccatgGcaatgccctctctcacgcct	9	10	5	17	1	3	0	2	0	1	0	4	0	3	0	3	1	3	1	3	1	3	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr11:5020730G>A	ENST00000321543.1	+	1	518	c.518G>A	c.(517-519)gGc>gAc	p.G173D		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACTGCCATGGCAATGCCCTC	0.453																																																	0													248	210	223					11																	5020730		2201	4298	6499	SO:0001583	missense	0			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"GPCR / Class A : Olfactory receptors"	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.518G>A	11.37:g.5020730G>A	ENSP00000322156:p.Gly173Asp		Q6IFE5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G173D	ENST00000321543.1	37	c.518	CCDS31369.1	11	.	.	.	.	.	.	.	.	.	.	G	6.120	0.390471	0.11581	.	.	ENSG00000176798	ENST00000321543	T	0.00076	8.76	5.18	-6.38	0.01957	GPCR, rhodopsin-like superfamily (1);	2.029840	0.02565	N	0.097202	T	0.00109	0.0003	L	0.33710	1.025	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30534	-0.9975	10	0.54805	T	0.06	.	5.8837	0.18870	0.1035:0.4921:0.2479:0.1565	.	173	Q8NGJ5	O51L1_HUMAN	D	173	ENSP00000322156:G173D	ENSP00000322156:G173D	G	+	2	0	OR51L1	4977306	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-1.904000	0.01593	-1.163000	0.02793	-0.319000	0.08680	GGC	OR51L1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176798		0.453	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51L1	HGNC	protein_coding	OTTHUMT00000142812.1	-	0	10	0	G	NM_001004755		5020730	1	tier1	-	no_errors	ENST00000321543	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.000	A	A	5020730	G	A	5020730	3	1	176	1	0	0	0	0	1	0	0	0	11141	1203	42	3	520	3	OR51L1	11	5020730	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		5020730	129985786	57	43961											
DRD2	1813	genome.wustl.edu	37	chr11	113295305	113295305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgccttcccgtctgacccGttgaagggccggctccagtt	4	10	11	16	4	1	2	0	2	1	0	4	2	4	2	6	2	0	3	6	2	1	3	rs200831689		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr11:113295305G>A	ENST00000362072.3	-	2	413	c.69C>T	c.(67-69)aaC>aaT	p.N23N	DRD2_ENST00000346454.3_Silent_p.N23N|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Silent_p.N23N|DRD2_ENST00000355319.2_Silent_p.N23N|DRD2_ENST00000538967.1_Silent_p.N23N|DRD2_ENST00000544518.1_Silent_p.N23N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	23					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)	CGTCTGACCCGTTGAAGGGCC	0.592													G|||	1	0.000199681	0	0	5008	,	,		18588	0		0	False		,,,				2504	0.001																0													177	144	155					11																	113295305		2201	4296	6497	SO:0001819	synonymous_variant	0			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.69C>T	11.37:g.113295305G>A			Q9NZR3|Q9UPA9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.N23	ENST00000362072.3	37	c.69	CCDS8361.1	11																																																																																			DRD2	-	NULL	ENSG00000149295		0.592	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	-	0	18	0	G	NM_000795		113295305	-1	tier1	rs200831689	no_errors	ENST00000355319	ensembl	human	known	74_37	silent	15.38	33	6	SNP	0.209	A	A	113295305	G	A	113295305	2	1	176	1	0	0	0	0	0	0	0	1	4771	1136	40	1		1	DRD2	11	113295305	Silent	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	108274575	113295305	21711211	58	43962											
VWF	7450	genome.wustl.edu	37	chr12	6128145	6128145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaacccccaagagccccGggcccacagtgacttgtgcc	9	5	10	17	2	0	2	0	1	0	1	1	3	0	2	6	1	3	0	6	1	2	1			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:6128145G>A	ENST00000261405.5	-	28	4693	c.4439C>T	c.(4438-4440)cCg>cTg	p.P1480L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1480					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)	CAAGAGCCCCGGGCCCACAGT	0.602																																																	0													22	30	27					12																	6128145		2191	4298	6489	SO:0001583	missense	0				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.4439C>T	12.37:g.6128145G>A	ENSP00000261405:p.Pro1480Leu		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.P1480L	ENST00000261405.5	37	c.4439	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	7.497	0.651941	0.14516	.	.	ENSG00000110799	ENST00000261405	T	0.77358	-1.09	4.88	3.06	0.35304	.	0.729994	0.11773	N	0.530956	T	0.80904	0.4713	M	0.89287	3.02	0.58432	D	0.999999	B	0.33345	0.409	B	0.37239	0.244	T	0.78306	-0.2255	10	0.66056	D	0.02	.	7.4245	0.27092	0.15:0.0:0.7156:0.1343	.	1480	P04275	VWF_HUMAN	L	1480	ENSP00000261405:P1480L	ENSP00000261405:P1480L	P	-	2	0	VWF	5998406	0.998000	0.40836	0.011000	0.14972	0.048000	0.14542	1.948000	0.40303	0.667000	0.31107	-0.226000	0.12346	CCG	VWF	-	pirsf_VWF	ENSG00000110799		0.602	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0	17	0	G	NM_000552		6128145	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	36.51	40	23	SNP	0.432	A	A	6128145	G	A	6128145	3	1	176	1	0	0	0	0	1	0	0	0	17295	1116	39	1	4102	1	VWF	12	6128145	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		6128145	127723750	59	43963											
TAS2R50	259296	genome.wustl.edu	37	chr12	11138694	11138694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgacaaccgggtcattccGcagcctcctaggactccaaa	11	7	8	15	2	1	1	1	1	0	0	4	2	4	2	5	2	2	1	5	2	3	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:11138694G>A	ENST00000506868.1	-	1	817	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	256					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.R256W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GGGTCATTCCGCAGCCTCCTA	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)											78	80	79					12																	11138694		2203	4300	6503	SO:0001583	missense	0			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.766C>T	12.37:g.11138694G>A	ENSP00000424040:p.Arg256Trp		P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.R256W	ENST00000506868.1	37	c.766	CCDS8638.1	12	.	.	.	.	.	.	.	.	.	.	G	7.126	0.578884	0.13686	.	.	ENSG00000212126	ENST00000506868	T	0.00776	5.71	2.19	0.0662	0.14360	.	1.518050	0.04751	U	0.424515	T	0.00524	0.0017	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47573	-0.9107	10	0.87932	D	0	.	3.6885	0.08338	0.1678:0.2556:0.5766:0.0	.	256	P59544	T2R50_HUMAN	W	256	ENSP00000424040:R256W	ENSP00000424040:R256W	R	-	1	2	TAS2R50	11029961	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.561000	0.02158	-0.149000	0.11215	-0.802000	0.03209	CGG	TAS2R50	-	pfam_TAS2_rcpt	ENSG00000212126		0.428	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R50	HGNC	protein_coding	OTTHUMT00000370192.2	-	0	24	0	G	NM_176890		11138694	-1	tier1	-	no_errors	ENST00000506868	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.000	A	A	11138694	G	A	11138694	3	1	176	1	0	0	0	0	1	0	0	0	15631	1086	38	1	137	1	TAS2R50	12	11138694	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	5010549	11138694	122713201	60	43964											
ATF7IP	55729	genome.wustl.edu	37	chr12	14650645	14650645	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctccacaaccacagcgtCtgcccccagaagctgccagc	11	4	8	18	1	1	1	0	0	1	1	2	1	2	1	5	0	7	2	5	0	3	0			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:14650645C>G	ENST00000540793.1	+	14	3606	c.3451C>G	c.(3451-3453)Ctg>Gtg	p.L1151V	ATF7IP_ENST00000544627.1_Missense_Mutation_p.L1159V|ATF7IP_ENST00000261168.4_Missense_Mutation_p.L1151V|ATF7IP_ENST00000536444.1_Missense_Mutation_p.L1150V			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1151					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						ACCACAGCGTCTGCCCCCAGA	0.527																																																	0													84	79	81					12																	14650645		2203	4300	6503	SO:0001583	missense	0			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.3451C>G	12.37:g.14650645C>G	ENSP00000444589:p.Leu1151Val		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.L1151V	ENST00000540793.1	37	c.3451	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440928	0.43326	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.65	3.84	0.44239	.	0.144113	0.32106	N	0.006564	T	0.40473	0.1118	L	0.59436	1.845	0.42812	D	0.993966	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.08764	-1.0706	10	0.52906	T	0.07	-2.4503	11.5633	0.50790	0.0:0.767:0.1084:0.1246	.	1150;1151	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	V	1151;1150;1159;1151	ENSP00000261168:L1151V;ENSP00000445955:L1150V;ENSP00000440440:L1159V;ENSP00000444589:L1151V	ENSP00000261168:L1151V	L	+	1	2	ATF7IP	14541912	0.986000	0.35501	0.968000	0.41197	0.981000	0.71138	1.990000	0.40717	0.433000	0.26313	-0.795000	0.03280	CTG	ATF7IP	-	NULL	ENSG00000171681		0.527	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	-	0	9	0	C	NM_018179		14650645	1	tier1	-	no_errors	ENST00000261168	ensembl	human	known	74_37	missense	24.14	22	7	SNP	0.983	G	G	14650645	C	G	14650645	3	3	176	1	0	0	0	0	1	0	0	0	1088	912	32	5	3505	5	ATF7IP	12	14650645	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	3511951	14650645	119201250	61	43965											
PRICKLE1	144165	genome.wustl.edu	37	chr12	42860064	42860064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aacagccacagcagaaggggCggccgtccttcatgatatac	12	6	11	12	2	1	2	1	1	0	1	2	2	2	2	3	3	4	1	3	3	4	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:42860064C>T	ENST00000455697.1	-	6	992	c.707G>A	c.(706-708)cGc>cAc	p.R236H	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R236H|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R236H|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R236H|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R236H	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	236	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCAGAAGGGGCGGCCGTCCTT	0.542																																																	0													91	79	83					12																	42860064		2203	4300	6503	SO:0001583	missense	0			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.707G>A	12.37:g.42860064C>T	ENSP00000401060:p.Arg236His		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R236H	ENST00000455697.1	37	c.707	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057439	0.55325	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.18	3.32	0.38043	Zinc finger, LIM-type (4);	0.098090	0.64402	N	0.000001	D	0.84302	0.5442	L	0.50847	1.595	0.58432	D	0.999999	B	0.28439	0.212	B	0.26693	0.072	T	0.81093	-0.1089	10	0.33141	T	0.24	-13.9958	12.1185	0.53878	0.0:0.8529:0.0:0.1471	.	236	Q96MT3	PRIC1_HUMAN	H	236	ENSP00000401060:R236H;ENSP00000398947:R236H;ENSP00000448359:R236H;ENSP00000345064:R236H;ENSP00000449819:R236H	ENSP00000345064:R236H	R	-	2	0	PRICKLE1	41146331	0.992000	0.36948	1.000000	0.80357	0.983000	0.72400	3.252000	0.51461	1.321000	0.45227	0.561000	0.74099	CGC	PRICKLE1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000139174		0.542	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1	-	0	24	0	C			42860064	-1	tier1	-	no_errors	ENST00000345127	ensembl	human	known	74_37	missense	30.00	42	18	SNP	1.000	T	T	42860064	C	T	42860064	3	4	176	1	0	0	0	0	1	0	0	0	12528	768	27	1	1800	1	PRICKLE1	12	42860064	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	28209419	42860064	90991831	62	43966											
LETMD1	25875	genome.wustl.edu	37	chr12	51442890	51442890	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atgtggtaaccaagacaaaaGcgattaatgggaaataccat	18	8	9	6	1	0	1	0	0	0	1	0	3	0	2	2	2	3	1	2	2	7	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:51442890G>T	ENST00000262055.4	+	2	235	c.196G>T	c.(196-198)Gcg>Tcg	p.A66S	LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000418425.2_Missense_Mutation_p.A66S|LETMD1_ENST00000547008.1_Missense_Mutation_p.A66S|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000380123.2_Missense_Mutation_p.A66S|LETMD1_ENST00000550929.1_Missense_Mutation_p.A10S	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	66	Required and sufficient for mitochondrial import.					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						CAAGACAAAAGCGATTAATGG	0.398																																																	0													129	114	119					12																	51442890		2203	4300	6503	SO:0001583	missense	0			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.196G>T	12.37:g.51442890G>T	ENSP00000262055:p.Ala66Ser		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	pfam_LETM1	p.A66S	ENST00000262055.4	37	c.196	CCDS8806.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.849|8.849	0.944061|0.944061	0.18281|0.18281	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000551477;ENST00000550929;ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008|ENST00000547256	T;T;T;T;T;T;T;T;T;T;T|T	0.44881|0.54675	1.0;1.01;0.99;0.95;0.93;0.92;0.94;0.91;0.94;1.0;0.96|0.56	4.7|4.7	2.86|2.86	0.33363|0.33363	.|.	1.152180|.	0.06206|.	N|.	0.684154|.	T|T	0.35068|0.35068	0.0919|0.0919	N|N	0.14661|0.14661	0.345|0.345	0.19300|0.19300	N|N	0.999974|0.999974	P;B;B;B;B;B|.	0.40476|.	0.718;0.062;0.004;0.275;0.062;0.004|.	B;B;B;B;B;B|.	0.33042|.	0.157;0.069;0.002;0.101;0.042;0.002|.	T|T	0.29274|0.29274	-1.0017|-1.0017	10|7	0.07325|0.87932	T|D	0.83|0	0.8453|0.8453	4.4122|4.4122	0.11438|0.11438	0.1877:0.0:0.6347:0.1776|0.1877:0.0:0.6347:0.1776	.|.	66;66;66;66;66;66|.	B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;Q6P1Q0|.	.;.;.;.;.;LTMD1_HUMAN|.	S|N	33;10;66;66;66;66;66;66;73;66;66;66|10	ENSP00000446862:A33S;ENSP00000450163:A10S;ENSP00000262055:A66S;ENSP00000448110:A66S;ENSP00000449896:A66S;ENSP00000450275:A66S;ENSP00000447166:A66S;ENSP00000369466:A66S;ENSP00000450082:A73S;ENSP00000389903:A66S;ENSP00000447419:A66S|ENSP00000446551:K10N	ENSP00000262055:A66S|ENSP00000446551:K10N	A|K	+|+	1|3	0|2	LETMD1|LETMD1	49729157|49729157	0.870000|0.870000	0.30015|0.30015	0.711000|0.711000	0.30485|0.30485	0.609000|0.609000	0.37215|0.37215	1.006000|1.006000	0.29847|0.29847	0.704000|0.704000	0.31869|0.31869	0.655000|0.655000	0.94253|0.94253	GCG|AAG	LETMD1	-	NULL	ENSG00000050426		0.398	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETMD1	HGNC	protein_coding	OTTHUMT00000404710.1	-	0	43	0	G	NM_015416		51442890	1	tier1	-	no_errors	ENST00000262055	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.379	T	T	51442890	G	T	51442890	3	4	176	1	0	0	0	0	1	0	0	0	8764	971	34	3	202	3	LETMD1	12	51442890	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	8582826	51442890	82409005	63	43967											
CCT2	10576	genome.wustl.edu	37	chr12	69986782	69986782	+	Silent	SNP	C	C	T	0	0	0	1	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	ggttcccgggtaagagttgaCtctacagcaaaggttgcaga	11	9	13	8	1	1	3	0	1	1	2	2	3	2	3	1	3	3	6	1	3	3	5			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:69986782C>T	ENST00000299300.6	+	9	965	c.777C>T	c.(775-777)gaC>gaT	p.D259D	CCT2_ENST00000543146.2_Silent_p.D212D|CCT2_ENST00000544368.2_Silent_p.D259D	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	259					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TAAGAGTTGACTCTACAGCAA	0.363																																																	0													80	81	80					12																	69986782		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.777C>T	12.37:g.69986782C>T			A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta	p.D259	ENST00000299300.6	37	c.777	CCDS8991.1	12																																																																																			CCT2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_beta	ENSG00000166226		0.363	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT2	HGNC	protein_coding	OTTHUMT00000403818.1	-	0	43	0	C	NM_006431		69986782	1	tier1	-	no_errors	ENST00000299300	ensembl	human	known	74_37	silent	32.00	68	32	SNP	1.000	T	T	69986782	C	T	69986782	2	4	176	1	0	0	0	0	0	0	0	1	2960	564	20	3		3	CCT2	12	69986782	Silent	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	18543892	69986782	63865113	64	43968											
ZFC3H1	196441	genome.wustl.edu	37	chr12	72024395	72024395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacctgctgaagcagtaaTttcttcattagtacttgtct	12	15	6	8	0	3	1	1	1	2	0	3	1	3	1	1	0	4	4	1	0	6	6			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:72024395T>C	ENST00000378743.3	-	18	4067	c.3709A>G	c.(3709-3711)Att>Gtt	p.I1237V		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1237					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						GAAGCAGTAATTTCTTCATTA	0.318																																																	0													75	70	72					12																	72024395		1804	4071	5875	SO:0001583	missense	0			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.3709A>G	12.37:g.72024395T>C	ENSP00000368017:p.Ile1237Val		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.I1237V	ENST00000378743.3	37	c.3709	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	T	8.427	0.847772	0.17034	.	.	ENSG00000133858	ENST00000378743	T	0.32753	1.44	4.97	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	L	0.29908	0.895	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.05616	-1.0874	10	0.15952	T	0.53	.	9.725	0.40326	0.0:0.1474:0.0:0.8526	.	1237	O60293	ZC3H1_HUMAN	V	1237	ENSP00000368017:I1237V	ENSP00000368017:I1237V	I	-	1	0	ZFC3H1	70310662	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	1.309000	0.33539	0.847000	0.35167	-0.410000	0.06199	ATT	ZFC3H1	-	NULL	ENSG00000133858		0.318	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	-	0	32	0	T	NM_144982		72024395	-1	tier1	-	no_errors	ENST00000378743	ensembl	human	known	74_37	missense	31.40	59	27	SNP	1.000	C	C	72024395	T	C	72024395	3	2	176	1	0	0	0	0	1	0	0	0	17681	1493	52	4	2332	4	ZFC3H1	12	72024395	Missense_Mutation	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09	2037613	72024395	61827500	65	43969											
ACSS3	79611	genome.wustl.edu	37	chr12	81627164	81627164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgctggttacatggatGaagaaggctatttgtatgtt	10	15	13	3	0	0	2	0	1	0	1	0	4	0	4	0	4	2	5	0	4	5	5			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:81627164G>A	ENST00000548058.1	+	13	2543	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	ACSS3_ENST00000548324.1_Missense_Mutation_p.E227K|ACSS3_ENST00000261206.3_Missense_Mutation_p.E544K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	545						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						TTACATGGATGAAGAAGGCTA	0.338																																																	0													265	259	261					12																	81627164		2203	4300	6503	SO:0001583	missense	0				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.1633G>A	12.37:g.81627164G>A	ENSP00000449535:p.Glu545Lys		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E545K	ENST00000548058.1	37	c.1633	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056713	0.76074	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.54071	2.66;2.66;0.59	5.84	4.95	0.65309	AMP-dependent synthetase/ligase (1);	0.049450	0.85682	D	0.000000	T	0.45054	0.1323	L	0.39633	1.23	0.80722	D	1	B;B	0.14438	0.01;0.008	B;B	0.15870	0.014;0.009	T	0.35798	-0.9774	10	0.49607	T	0.09	-15.3476	14.0669	0.64837	0.0726:0.0:0.9274:0.0	.	227;545	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	K	545;544;227	ENSP00000449535:E545K;ENSP00000261206:E544K;ENSP00000448965:E227K	ENSP00000261206:E544K	E	+	1	0	ACSS3	80151295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.465000	0.80898	2.777000	0.95525	0.650000	0.86243	GAA	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.338	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0	40	0	G	NM_024560		81627164	1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	missense	15.53	87	16	SNP	1.000	A	A	81627164	G	A	81627164	3	1	176	1	0	0	0	0	1	0	0	0	190	1291	45	3	1683	3	ACSS3	12	81627164	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	9602769	81627164	52224731	66	43970											
C12orf12	196477	genome.wustl.edu	37	chr12	91347661	91347661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctggtcatactcctcctCatcatcatttttcttctcct	5	18	2	16	0	6	0	4	0	2	0	10	0	9	0	4	1	1	0	4	1	1	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:91347661C>T	ENST00000358859.2	-	1	1292	c.859G>A	c.(859-861)Gag>Aag	p.E287K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	287	Glu-rich.																tactcctcctcatcatcattt	0.522																																																	0													223	216	218					12																	91347661		2203	4300	6503	SO:0001583	missense	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.859G>A	12.37:g.91347661C>T	ENSP00000351727:p.Glu287Lys		Q8TC47	Missense_Mutation	SNP	NULL	p.E287K	ENST00000358859.2	37	c.859	CCDS9036.1	12	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802336	0.31869	.	.	ENSG00000197651	ENST00000358859	T	0.31510	1.49	5.0	3.14	0.36123	.	.	.	.	.	T	0.25754	0.0627	N	0.19112	0.55	0.09310	N	1	P	0.50156	0.932	P	0.51135	0.66	T	0.05937	-1.0855	9	0.35671	T	0.21	-3.4829	6.2145	0.20648	0.1812:0.7242:0.0:0.0946	.	287	Q8TC90	CL012_HUMAN	K	287	ENSP00000351727:E287K	ENSP00000351727:E287K	E	-	1	0	C12orf12	89871792	0.005000	0.15991	0.005000	0.12908	0.064000	0.16182	0.809000	0.27168	0.656000	0.30886	0.397000	0.26171	GAG	CCER1	-	NULL	ENSG00000197651		0.522	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2	-	0	16	0	C	NM_152638		91347661	-1	tier1	-	no_errors	ENST00000358859	ensembl	human	known	74_37	missense	37.84	23	14	SNP	0.011	T	T	91347661	C	T	91347661	3	4	176	1	0	0	0	0	1	0	0	0	1681	835	29	3	365	3	C12orf12	12	91347661	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	9720497	91347661	42504234	67	43971											
NBEA	26960	genome.wustl.edu	37	chr13	35926358	35926358	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gatgtgtgaccatcttatcaGtgctgctaaacatcgagatc	11	12	9	9	1	2	2	1	1	1	1	4	4	2	2	1	0	3	2	1	0	3	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr13:35926358G>T	ENST00000400445.3	+	38	6611	c.6077G>T	c.(6076-6078)aGt>aTt	p.S2026I	NBEA_ENST00000540320.1_Missense_Mutation_p.S2026I|NBEA_ENST00000310336.4_Missense_Mutation_p.S2026I|NBEA_ENST00000379939.2_Missense_Mutation_p.S2023I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2026					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)		CATCTTATCAGTGCTGCTAAA	0.368																																																	0													80	77	78					13																	35926358		1922	4129	6051	SO:0001583	missense	0			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.6077G>T	13.37:g.35926358G>T	ENSP00000383295:p.Ser2026Ile		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.S2026I	ENST00000400445.3	37	c.6077	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752804	0.49362	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.88	4.88	0.63580	Domain of unknown function DUF1088 (1);	0.106321	0.64402	D	0.000003	T	0.41236	0.1150	L	0.50333	1.59	0.80722	D	1	P;B	0.41313	0.745;0.27	B;B	0.39027	0.288;0.281	T	0.32640	-0.9899	10	0.35671	T	0.21	.	18.3771	0.90439	0.0:0.0:1.0:0.0	.	2026;2023	Q8NFP9;Q5T321	NBEA_HUMAN;.	I	2026;2026;2023;2026;653	ENSP00000440951:S2026I;ENSP00000383295:S2026I;ENSP00000369271:S2023I;ENSP00000308534:S2026I	ENSP00000308534:S2026I	S	+	2	0	NBEA	34824358	1.000000	0.71417	0.589000	0.28718	0.041000	0.13682	9.775000	0.98995	2.399000	0.81585	0.591000	0.81541	AGT	NBEA	-	pfam_DUF1088	ENSG00000172915		0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	27	0	G	NM_015678		35926358	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T	T	35926358	G	T	35926358	3	4	176	1	0	0	0	0	1	0	0	0	10225	1029	36	3	6227	3	NBEA	13	35926358	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		35926358	79243520	68	43972											
TRPC4	7223	genome.wustl.edu	37	chr13	38211399	38211399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatttggtttgcattttGctcagcagcattttgttttg	7	19	10	5	0	1	1	1	0	0	1	1	2	1	1	0	1	4	6	0	1	1	8			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr13:38211399G>T	ENST00000379705.3	-	11	3432	c.2575C>A	c.(2575-2577)Caa>Aaa	p.Q859K	TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.Q686K|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.Q864K|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.Q686K|TRPC4_ENST00000358477.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	859	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTGCATTTTGCTCAGCAGCA	0.423																																																	0													78	76	77					13																	38211399		2203	4299	6502	SO:0001583	missense	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2575C>A	13.37:g.38211399G>T	ENSP00000369027:p.Gln859Lys		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.Q864K	ENST00000379705.3	37	c.2590	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435454	0.25813	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679	T;T;T;T	0.64438	-0.1;-0.1;0.11;0.11	5.56	3.76	0.43208	.	1.537720	0.03977	N	0.292711	T	0.46580	0.1400	N	0.14661	0.345	0.80722	D	1	B;B;B	0.20368	0.0;0.044;0.013	B;B;B	0.18871	0.0;0.023;0.006	T	0.14952	-1.0454	10	0.05959	T	0.93	-6.2563	13.2307	0.59941	0.0:0.1504:0.7396:0.11	.	864;686;859	Q9UBN4-5;Q9UBN4-6;Q9UBN4	.;.;TRPC4_HUMAN	K	859;864;686;686	ENSP00000369027:Q859K;ENSP00000369003:Q864K;ENSP00000342580:Q686K;ENSP00000369001:Q686K	ENSP00000342580:Q686K	Q	-	1	0	TRPC4	37109399	1.000000	0.71417	0.894000	0.35097	0.992000	0.81027	3.572000	0.53849	1.290000	0.44636	0.563000	0.77884	CAA	TRPC4	-	NULL	ENSG00000133107		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	-	0	35	0	G	NM_003306		38211399	-1	tier1	-	no_errors	ENST00000379681	ensembl	human	known	74_37	missense	42.86	28	21	SNP	0.848	T	T	38211399	G	T	38211399	3	4	176	1	0	0	0	0	1	0	0	0	16628	1328	46	3	362	3	TRPC4	13	38211399	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	2285041	38211399	76958479	69	43973											
PCDH9	5101	genome.wustl.edu	37	chr13	67802560	67802560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcagccaacaggtaaaaatCcctcaggtccatgataatgt	15	8	8	10	0	1	1	1	1	0	0	3	1	3	1	3	2	3	2	3	2	5	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr13:67802560C>T	ENST00000377865.2	-	1	147	c.13G>A	c.(13-15)Gat>Aat	p.D5N	PCDH9_ENST00000328454.5_Missense_Mutation_p.D5N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D5N|PCDH9_ENST00000544246.1_Missense_Mutation_p.D5N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D5N			Q9HC56	PCDH9_HUMAN	protocadherin 9	5					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGGTAAAAATCCCTCAGGTCC	0.393																																																	0													55	55	55					13																	67802560		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.13G>A	13.37:g.67802560C>T	ENSP00000367096:p.Asp5Asn		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D5N	ENST00000377865.2	37	c.13	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333454	0.41297	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.53206	0.68;0.68;0.63;0.63;0.65	5.82	4.97	0.65823	.	0.198590	0.52532	D	0.000080	T	0.34513	0.0900	N	0.22421	0.69	0.49051	D	0.999749	B;B;P;P	0.38395	0.349;0.139;0.629;0.495	B;B;B;B	0.35899	0.07;0.076;0.213;0.15	T	0.16041	-1.0416	10	0.38643	T	0.18	.	15.3189	0.74105	0.0:0.9317:0.0:0.0682	.	5;5;5;5	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	5	ENSP00000442186:D5N;ENSP00000367096:D5N;ENSP00000401699:D5N;ENSP00000332060:D5N;ENSP00000367092:D5N	ENSP00000332060:D5N	D	-	1	0	PCDH9	66700561	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.775000	0.68915	2.754000	0.94517	0.650000	0.86243	GAT	PCDH9	-	NULL	ENSG00000184226		0.393	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	33	0	C	NM_203487		67802560	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	29.31	41	17	SNP	1.000	T	T	67802560	C	T	67802560	3	4	176	1	0	0	0	0	1	0	0	0	11557	855	30	3	3716	3	PCDH9	13	67802560	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	29591161	67802560	47367318	70	43974											
LRFN5	145581	genome.wustl.edu	37	chr14	42356936	42356936	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctggggaagcaacacaaataGtggatcttcatataattaag	16	10	9	6	0	2	0	1	0	1	0	2	2	2	2	0	3	2	1	0	3	7	5			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr14:42356936G>T	ENST00000298119.4	+	3	2297	c.1108G>T	c.(1108-1110)Gtg>Ttg	p.V370L	LRFN5_ENST00000554171.1_Missense_Mutation_p.V370L|LRFN5_ENST00000554120.1_Missense_Mutation_p.V370L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	370	Ig-like.					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)		AACACAAATAGTGGATCTTCA	0.398										HNSCC(30;0.082)																																							0													78	80	80					14																	42356936		2203	4300	6503	SO:0001583	missense	0			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.1108G>T	14.37:g.42356936G>T	ENSP00000298119:p.Val370Leu		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V370L	ENST00000298119.4	37	c.1108	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604286	0.46423	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.66460	-0.21;-0.21;-0.21	5.4	3.55	0.40652	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.125352	0.35615	N	0.003097	T	0.72326	0.3446	M	0.79926	2.475	0.35264	D	0.779815	P;B	0.36944	0.574;0.363	P;B	0.47827	0.558;0.395	T	0.77027	-0.2740	10	0.62326	D	0.03	.	5.5495	0.17083	0.1682:0.0:0.6741:0.1577	.	370;370	G3V364;Q96NI6	.;LRFN5_HUMAN	L	370	ENSP00000298119:V370L;ENSP00000451897:V370L;ENSP00000451067:V370L	ENSP00000298119:V370L	V	+	1	0	LRFN5	41426686	0.995000	0.38212	1.000000	0.80357	0.972000	0.66771	2.279000	0.43435	0.739000	0.32628	0.563000	0.77884	GTG	LRFN5	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000165379		0.398	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0	31	0	G	NM_152447		42356936	1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	59.77	35	52	SNP	0.995	T	T	42356936	G	T	42356936	3	4	176	1	0	0	0	0	1	0	0	0	8976	1029	36	3	1110	3	LRFN5	14	42356936	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		42356936	64992604	71	43975											
C15orf33	196951	genome.wustl.edu	37	chr15	49867238	49867238	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaaccaccaccaaaaGgagtcatgcaaaagagcaat	19	4	9	9	0	1	2	1	0	0	2	1	4	1	3	3	2	3	2	3	2	6	0			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr15:49867238G>A	ENST00000299338.6	-	8	918	c.615C>T	c.(613-615)tcC>tcT	p.S205S	FAM227B_ENST00000561064.1_Silent_p.S205S	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	205								p.S205S(1)									ACCACCAAAAGGAGTCATGCA	0.308																																																	1	Substitution - coding silent(1)	large_intestine(1)											57	63	61					15																	49867238		2196	4295	6491	SO:0001819	synonymous_variant	0				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 33"	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.615C>T	15.37:g.49867238G>A			Q86WS2	Silent	SNP	NULL	p.S205	ENST00000299338.6	37	c.615	CCDS32237.1	15																																																																																			FAM227B	-	NULL	ENSG00000166262		0.308	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FAM227B	HGNC	protein_coding	OTTHUMT00000417872.1	-	0	54	0	G	NM_152647		49867238	-1	tier1	-	no_errors	ENST00000299338	ensembl	human	known	74_37	silent	11.76	90	12	SNP	0.910	A	A	49867238	G	A	49867238	2	1	176	1	0	0	0	0	0	0	0	1	1796	987	35	3		3	C15orf33	15	49867238	Silent	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		49867238	52664154	72	43976											
ZWILCH	55055	genome.wustl.edu	37	chr15	66821208	66821208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccttgaagcatgacactGctgcagtcgatcgttccgtc	9	10	10	12	3	0	3	0	2	0	1	4	4	1	3	2	0	3	4	2	0	1	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr15:66821208G>A	ENST00000307897.5	+	11	1368	c.988G>A	c.(988-990)Gct>Act	p.A330T	ZWILCH_ENST00000565627.1_Missense_Mutation_p.A216T|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A216T|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A216T	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	330					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						GCATGACACTGCTGCAGTCGA	0.408																																																	0													113	102	106					15																	66821208		2201	4299	6500	SO:0001583	missense	0			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.988G>A	15.37:g.66821208G>A	ENSP00000311429:p.Ala330Thr		B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	pfam_RZZ-complex_zwilch	p.A330T	ENST00000307897.5	37	c.988	CCDS10219.1	15	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903489	0.52333	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.52295	0.67;0.67;0.67	5.4	3.52	0.40303	.	0.135775	0.51477	N	0.000094	T	0.47507	0.1449	M	0.72894	2.215	0.40763	D	0.983024	B	0.27316	0.175	B	0.31812	0.136	T	0.44483	-0.9325	10	0.40728	T	0.16	-11.352	10.2248	0.43218	0.2148:0.0:0.7852:0.0	.	330	Q9H900	ZWILC_HUMAN	T	330;216;216	ENSP00000311429:A330T;ENSP00000402217:A216T;ENSP00000437749:A216T	ENSP00000311429:A330T	A	+	1	0	ZWILCH	64608262	0.963000	0.33076	0.028000	0.17463	0.230000	0.25150	2.745000	0.47459	0.761000	0.33130	0.462000	0.41574	GCT	ZWILCH	-	pfam_RZZ-complex_zwilch	ENSG00000174442		0.408	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZWILCH	HGNC	protein_coding	OTTHUMT00000256904.4	-	0	8	0	G	NM_017975		66821208	1	tier1	-	no_errors	ENST00000307897	ensembl	human	known	74_37	missense	20.51	30	8	SNP	0.686	A	A	66821208	G	A	66821208	3	1	176	1	0	0	0	0	1	0	0	0	18296	1319	46	3	1030	3	ZWILCH	15	66821208	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	16953970	66821208	35710184	73	43977											
PTPN9	5780	genome.wustl.edu	37	chr15	75763081	75763081	+	Missense_Mutation	SNP	A	A	T	1	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	ttcatgttctccacgcctagAttggtcactgtgaggaagcc	8	12	10	11	1	3	2	2	1	1	1	4	3	3	3	3	2	1	1	3	2	2	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr15:75763081A>T	ENST00000306726.2	-	11	1811	c.1299T>A	c.(1297-1299)aaT>aaA	p.N433K		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	433	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCACGCCTAGATTGGTCACTG	0.443																																																	0													146	138	141					15																	75763081		2197	4294	6491	SO:0001583	missense	0				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1299T>A	15.37:g.75763081A>T	ENSP00000303554:p.Asn433Lys		Q53XR9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran	p.N433K	ENST00000306726.2	37	c.1299	CCDS10280.1	15	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582428	0.65992	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84070	-1.8	5.87	1.0	0.19881	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.042773	0.85682	D	0.000000	T	0.79598	0.4473	M	0.64567	1.98	0.52501	D	0.999956	P	0.38110	0.618	B	0.41466	0.358	T	0.71210	-0.4660	10	0.29301	T	0.29	.	9.9582	0.41680	0.522:0.0:0.478:0.0	.	433	P43378	PTN9_HUMAN	K	433;423	ENSP00000303554:N433K	ENSP00000303554:N433K	N	-	3	2	PTPN9	73550134	0.994000	0.37717	0.996000	0.52242	0.995000	0.86356	0.381000	0.20619	-0.068000	0.12953	0.533000	0.62120	AAT	PTPN9	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000169410		0.443	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN9	HGNC	protein_coding	OTTHUMT00000286474.1	-	0	45	0	A			75763081	-1	tier1	-	no_errors	ENST00000306726	ensembl	human	known	74_37	missense	15.66	70	13	SNP	0.995	T	T	75763081	A	T	75763081	3	4	176	1	0	0	0	0	1	0	0	0	12839	330	12	5	494	5	PTPN9	15	75763081	Missense_Mutation	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	8941873	75763081	26768311	74	43978											
LRRK1	79705	genome.wustl.edu	37	chr15	101591974	101591974	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtacgtgccctgcccGgtctgcgagacagcctgggc	6	6	15	14	3	1	1	0	0	1	1	1	3	1	1	3	2	6	2	3	2	1	1	rs199698040		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr15:101591974G>T	ENST00000388948.3	+	24	3857	c.3498G>T	c.(3496-3498)ccG>ccT	p.P1166P	RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000284395.5_Silent_p.P1163P|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCCCTGCCCGGTCTGCGAGA	0.592																																																	0													65	72	69					15																	101591974		2139	4238	6377	SO:0001819	synonymous_variant	0			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.3498G>T	15.37:g.101591974G>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.P1166	ENST00000388948.3	37	c.3498	CCDS42086.1	15																																																																																			LRRK1	-	NULL	ENSG00000154237		0.592	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0	27	0	G	NM_024652		101591974	1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	silent	36.36	28	16	SNP	0.000	T	T	101591974	G	T	101591974	2	4	176	1	0	0	0	0	0	0	0	1	9067	1103	39	2		2	LRRK1	15	101591974	Silent	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	25828893	101591974	939418	75	43979											
CLDN9	9080	genome.wustl.edu	37	chr16	3063367	3063367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctaaccgaggggccagatgGcttcgaccggcttagaactg	9	7	13	12	3	0	2	0	0	0	2	1	4	0	2	4	4	2	2	4	4	3	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr16:3063367G>A	ENST00000445369.2	+	1	911	c.4G>A	c.(4-6)Gct>Act	p.A2T		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	2					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|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)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GGGCCAGATGGCTTCGACCGG	0.652																																																	0													70	60	63					16																	3063367		2198	4300	6498	SO:0001583	missense	0			AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"Claudins"	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.4G>A	16.37:g.3063367G>A	ENSP00000398017:p.Ala2Thr			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9	p.A2T	ENST00000445369.2	37	c.4	CCDS10487.1	16	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675457	0.67928	.	.	ENSG00000213937	ENST00000445369	D	0.85171	-1.95	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.89033	0.6600	M	0.80332	2.49	0.80722	D	1	P	0.46457	0.878	P	0.49561	0.615	D	0.90687	0.4610	10	0.66056	D	0.02	.	15.105	0.72315	0.0:0.0:1.0:0.0	.	2	O95484	CLD9_HUMAN	T	2	ENSP00000398017:A2T	ENSP00000398017:A2T	A	+	1	0	CLDN9	3003368	1.000000	0.71417	0.998000	0.56505	0.037000	0.13140	4.353000	0.59411	2.424000	0.82194	0.585000	0.79938	GCT	CLDN9	-	NULL	ENSG00000213937		0.652	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN9	HGNC	protein_coding	OTTHUMT00000250989.1	-	0	12	0	G	NM_020982		3063367	1	tier1	-	no_errors	ENST00000445369	ensembl	human	known	74_37	missense	42.31	15	11	SNP	1.000	A	A	3063367	G	A	3063367	3	1	176	1	0	0	0	0	1	0	0	0	3499	1203	42	3	6	3	CLDN9	16	3063367	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		3063367	87291386	76	43980											
ADCY7	113	genome.wustl.edu	37	chr16	50334726	50334726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgcgcaagtggcagtatGacgtgtggtcccacgacgtg	7	8	16	10	4	0	1	0	1	0	0	1	2	1	1	1	3	1	4	1	3	2	1			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr16:50334726G>A	ENST00000394697.2	+	9	1517	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	ADCY7_ENST00000537579.1_Missense_Mutation_p.D393N|ADCY7_ENST00000566433.2_Missense_Mutation_p.D393N|ADCY7_ENST00000538642.1_Missense_Mutation_p.D393N|ADCY7_ENST00000254235.3_Missense_Mutation_p.D393N			P51828	ADCY7_HUMAN	adenylate cyclase 7	393	Guanylate cyclase 1. {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)		GTGGCAGTATGACGTGTGGTC	0.677																																																	0													130	102	111					16																	50334726		2165	4249	6414	SO:0001583	missense	0			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.1177G>A	16.37:g.50334726G>A	ENSP00000378187:p.Asp393Asn		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D393N	ENST00000394697.2	37	c.1177	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.248290	0.95305	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.83	4.83	0.62350	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.46145	U	0.000312	D	0.95881	0.8659	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98154	1.0443	10	0.87932	D	0	.	17.906	0.88918	0.0:0.0:1.0:0.0	.	393;393	P51828;F5H4D1	ADCY7_HUMAN;.	N	393	ENSP00000445046:D393N;ENSP00000378187:D393N;ENSP00000437788:D393N;ENSP00000254235:D393N	ENSP00000254235:D393N	D	+	1	0	ADCY7	48892227	1.000000	0.71417	0.997000	0.53966	0.825000	0.46686	9.860000	0.99555	2.209000	0.71365	0.313000	0.20887	GAC	ADCY7	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000121281		0.677	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	-	0	23	0	G			50334726	1	tier1	-	no_errors	ENST00000254235	ensembl	human	known	74_37	missense	28.00	36	14	SNP	1.000	A	A	50334726	G	A	50334726	3	1	176	1	0	0	0	0	1	0	0	0	299	1290	45	3	1207	3	ADCY7	16	50334726	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	47271359	50334726	40020027	77	43981											
NLRC5	84166	genome.wustl.edu	37	chr16	57074572	57074572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctccagggctgcatttCttgacagcctcatgctccag	6	11	9	15	0	2	1	1	1	1	0	5	1	5	1	4	1	3	3	4	1	0	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr16:57074572C>A	ENST00000262510.6	+	17	3106	c.2881C>A	c.(2881-2883)Ctt>Att	p.L961I	NLRC5_ENST00000539144.1_Missense_Mutation_p.L961I|NLRC5_ENST00000308149.7_Missense_Mutation_p.L961I|NLRC5_ENST00000436936.1_Missense_Mutation_p.L961I	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	961					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)				GGCTGCATTTCTTGACAGCCT	0.602																																																	0													119	98	105					16																	57074572		2198	4300	6498	SO:0001583	missense	0			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.2881C>A	16.37:g.57074572C>A	ENSP00000262510:p.Leu961Ile		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.L961I	ENST00000262510.6	37	c.2881	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.51|16.51	3.142985|3.142985	0.57044|0.57044	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.75050|.	-0.67;-0.69;-0.9;-0.69;2.27;2.05|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	.|.	.|.	.|.	.|.	T|T	0.40423|0.40423	0.1116|0.1116	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;P;P;P|.	0.43352|.	0.418;0.804;0.804;0.565|.	B;P;B;B|.	0.48141|.	0.122;0.568;0.36;0.276|.	T|T	0.20538|0.20538	-1.0272|-1.0272	9|5	0.42905|.	T|.	0.14|.	.|.	11.1114|11.1114	0.48235|0.48235	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	961;961;961;961|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	I|Y	961;961;961;435;961;468;260|713	ENSP00000262510:L961I;ENSP00000308886:L961I;ENSP00000389739:L961I;ENSP00000441727:L961I;ENSP00000441597:L468I;ENSP00000440153:L260I|.	ENSP00000262510:L961I|.	L|S	+|+	1|2	0|0	NLRC5|NLRC5	55632073|55632073	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.628000|0.628000	0.37860|0.37860	0.847000|0.847000	0.27696|0.27696	2.318000|2.318000	0.78349|0.78349	0.557000|0.557000	0.71058|0.71058	CTT|TCT	NLRC5	-	NULL	ENSG00000140853		0.602	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	-	0	14	0	C	NM_032206		57074572	1	tier1	-	no_errors	ENST00000262510	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.010	A	A	57074572	C	A	57074572	3	1	176	1	0	0	0	0	1	0	0	0	10509	913	32	3	2939	3	NLRC5	16	57074572	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	6739846	57074572	33280181	78	43982											
SLC38A8	146167	genome.wustl.edu	37	chr16	84070482	84070482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcccaggatgaccagcccGctgatcaggaagaccaacga	13	4	11	13	2	1	3	1	2	0	1	1	6	1	5	4	2	3	1	4	2	3	1	rs149748570		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr16:84070482G>A	ENST00000299709.3	-	2	212	c.213C>T	c.(211-213)agC>agT	p.S71S		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	71					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGACCAGCCCGCTGATCAGGA	0.662													G|||	1	0.000199681	0	0	5008	,	,		13049	0		0	False		,,,				2504	0.001																0								G		1,4399	2.1+/-5.4	0,1,2199	53	44	47		213	-8.1	0.6	16	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous	SLC38A8	NM_001080442.1		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		71/436	84070482	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	0				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.213C>T	16.37:g.84070482G>A				Silent	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.S71	ENST00000299709.3	37	c.213	CCDS32495.1	16																																																																																			SLC38A8	-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	ENSG00000166558		0.662	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	HGNC	protein_coding	OTTHUMT00000432623.1	-	0	38	0	G	NM_001080442		84070482	-1	tier1	rs149748570	no_errors	ENST00000299709	ensembl	human	known	74_37	silent	27.94	49	19	SNP	0.532	A	A	84070482	G	A	84070482	2	1	176	1	0	0	0	0	0	0	0	1	14655	1078	38	1		1	SLC38A8	16	84070482	Silent	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	26995910	84070482	6284271	79	43983											
C16orf7	9605	genome.wustl.edu	37	chr16	89777128	89777128	+	Missense_Mutation	SNP	T	T	C	0	1	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	cctcgaacgagctgtccttgTctggcaatccagatgcggtg	7	10	12	12	3	1	1	0	0	1	1	4	3	3	1	3	2	3	2	3	2	2	1			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr16:89777128T>C	ENST00000389386.3	-	10	1248	c.1124A>G	c.(1123-1125)gAc>gGc	p.D375G	VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000561976.1_Missense_Mutation_p.D305G|VPS9D1_ENST00000565452.1_5'Flank	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	375					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GCTGTCCTTGTCTGGCAATCC	0.721																																																	0													9	11	10					16																	89777128		1940	4129	6069	SO:0001583	missense	0			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.1124A>G	16.37:g.89777128T>C	ENSP00000374037:p.Asp375Gly			Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.D375G	ENST00000389386.3	37	c.1124	CCDS42220.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.750|8.750	0.921162|0.921162	0.17982|0.17982	.|.	.|.	ENSG00000075399|ENSG00000075399	ENST00000389386|ENST00000261625	.|.	.|.	.|.	3.75|3.75	2.66|2.66	0.31614|0.31614	.|.	0.771673|.	0.12393|.	N|.	0.472873|.	T|T	0.19846|0.19846	0.0477|0.0477	N|N	0.16307|0.16307	0.4|0.4	0.30953|0.30953	N|N	0.724504|0.724504	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.30794|0.30794	-0.9966|-0.9966	9|6	0.28530|0.05721	T|T	0.3|0.95	-4.2379|-4.2379	6.0432|6.0432	0.19746|0.19746	0.0:0.1447:0.0:0.8553|0.0:0.1447:0.0:0.8553	.|.	375|.	Q9Y2B5|.	CP007_HUMAN|.	G|A	375|406	.|.	ENSP00000374037:D375G|ENSP00000261625:T406A	D|T	-|-	2|1	0|0	C16orf7|C16orf7	88304629|88304629	0.290000|0.290000	0.24343|0.24343	0.806000|0.806000	0.32338|0.32338	0.197000|0.197000	0.23852|0.23852	0.439000|0.439000	0.21575|0.21575	0.455000|0.455000	0.26910|0.26910	0.459000|0.459000	0.35465|0.35465	GAC|ACA	VPS9D1	-	NULL	ENSG00000075399		0.721	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1	HGNC	protein_coding	OTTHUMT00000422508.1	-	0	42	0	T	NM_004913		89777128	-1	tier1	-	no_errors	ENST00000389386	ensembl	human	known	74_37	missense	27.85	57	22	SNP	0.965	C	C	89777128	T	C	89777128	3	2	176	1	0	0	0	0	1	0	0	0	1833	1667	58	4	795	4	C16orf7	16	89777128	Missense_Mutation	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09	5706646	89777128	577625	80	43984											
KDM6B	23135	genome.wustl.edu	37	chr17	7749410	7749410	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtagggcgcccactccaaGacccctccatgggaagctgg	8	6	12	15	1	0	1	0	0	0	1	2	2	2	2	5	3	1	2	5	3	3	1			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr17:7749410G>C	ENST00000448097.2	+	6	582	c.251G>C	c.(250-252)aGa>aCa	p.R84T	KDM6B_ENST00000254846.5_Missense_Mutation_p.R84T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	84	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCACTCCAAGACCCCTCCAT	0.637																																																	0													19	20	19					17																	7749410		2199	4298	6497	SO:0001583	missense	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.251G>C	17.37:g.7749410G>C	ENSP00000412513:p.Arg84Thr		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R84T	ENST00000448097.2	37	c.251		17	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748662	0.30955	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.35048	1.33;1.33	4.48	4.48	0.54585	.	0.073047	0.49916	D	0.000122	T	0.39759	0.1090	N	0.08118	0	0.32896	D	0.512558	D	0.76494	0.999	D	0.80764	0.994	T	0.56347	-0.7994	10	0.87932	D	0	-7.6521	15.0393	0.71777	0.0:0.0:1.0:0.0	.	84	O15054-1	.	T	84	ENSP00000254846:R84T;ENSP00000412513:R84T	ENSP00000254846:R84T	R	+	2	0	KDM6B	7690135	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.986000	0.49370	2.496000	0.84212	0.650000	0.86243	AGA	KDM6B	-	NULL	ENSG00000132510		0.637	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	-	0	10	0	G	XM_043272		7749410	1	tier1	-	no_errors	ENST00000254846	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	C	C	7749410	G	C	7749410	3	2	176	1	0	0	0	0	1	0	0	0	8165	942	33	5	261	5	KDM6B	17	7749410	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		7749410	73445800	81	43985											
C17orf78	284099	genome.wustl.edu	37	chr17	35736300	35736300	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacatccaagtttcagactgGatctcttctaaaaggcaaag	14	10	7	10	0	3	1	1	0	2	1	5	2	4	2	1	2	0	2	1	2	4	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr17:35736300G>C	ENST00000300618.4	+	3	421	c.371G>C	c.(370-372)gGa>gCa	p.G124A	ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.G124A	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	124						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				TTTCAGACTGGATCTCTTCTA	0.478																																																	0													78	76	77					17																	35736300		1905	4125	6030	SO:0001583	missense	0			BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.371G>C	17.37:g.35736300G>C	ENSP00000300618:p.Gly124Ala		Q8N8D2	Missense_Mutation	SNP	NULL	p.G124A	ENST00000300618.4	37	c.371	CCDS45655.1	17	.	.	.	.	.	.	.	.	.	.	G	5.151	0.213375	0.09757	.	.	ENSG00000167230	ENST00000300618;ENST00000321564	T	0.49432	0.78	4.86	3.89	0.44902	.	0.425811	0.20387	N	0.093333	T	0.50240	0.1604	L	0.36672	1.1	0.09310	N	1	P;P	0.49961	0.93;0.93	P;P	0.56823	0.807;0.807	T	0.33523	-0.9865	10	0.36615	T	0.2	-1.3633	10.4448	0.44488	0.0:0.0:0.8059:0.1941	.	124;124	Q8N4C9-2;Q8N4C9	.;CQ078_HUMAN	A	124	ENSP00000300618:G124A	ENSP00000300618:G124A	G	+	2	0	C17orf78	32810413	0.850000	0.29656	0.042000	0.18584	0.132000	0.20833	1.927000	0.40094	1.251000	0.43983	0.655000	0.94253	GGA	C17orf78	-	NULL	ENSG00000167230		0.478	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C17orf78	HGNC	protein_coding	OTTHUMT00000451570.2	-	0	14	0	G	NM_173625		35736300	1	tier1	-	no_errors	ENST00000300618	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.115	C	C	35736300	G	C	35736300	3	2	176	1	0	0	0	0	1	0	0	0	1889	1174	41	5	381	5	C17orf78	17	35736300	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	27986890	35736300	45458910	82	43986											
MLX	6945	genome.wustl.edu	37	chr17	40720545	40720545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccagagctaatagcatcgGttccaccagtgcctcttctg	8	11	9	13	1	2	1	0	0	2	1	5	1	4	1	4	1	3	3	4	1	2	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr17:40720545G>T	ENST00000246912.4	+	3	352	c.299G>T	c.(298-300)gGt>gTt	p.G100V	MLX_ENST00000346833.4_Intron|MLX_ENST00000435881.2_Missense_Mutation_p.G46V	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	100					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		AATAGCATCGGTTCCACCAGT	0.537																																					GBM(121;657 1601 4665 24731 34640)												0													145	146	145					17																	40720545		2203	4300	6503	SO:0001583	missense	0			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	11645	protein-coding gene	gene with protein product		602976	"transcription factor-like 4", "MAX-like protein X"	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.299G>T	17.37:g.40720545G>T	ENSP00000246912:p.Gly100Val		A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G100V	ENST00000246912.4	37	c.299	CCDS11430.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.397103	0.96009	.	.	ENSG00000108788	ENST00000246912;ENST00000435881	T;T	0.81163	-1.46;-1.15	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70016	0.959;0.967	D	0.83835	0.0254	10	0.39692	T	0.17	-11.5074	18.9633	0.92685	0.0:0.0:1.0:0.0	.	100;46	Q9UH92;Q9UH92-3	MLX_HUMAN;.	V	100;46	ENSP00000246912:G100V;ENSP00000416627:G46V	ENSP00000246912:G100V	G	+	2	0	MLX	37974071	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.446000	0.97590	2.813000	0.96785	0.561000	0.74099	GGT	MLX	-	NULL	ENSG00000108788		0.537	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLX	HGNC	protein_coding	OTTHUMT00000450415.1	-	0	29	0	G	NM_170607		40720545	1	tier1	-	no_errors	ENST00000246912	ensembl	human	known	74_37	missense	27.63	55	21	SNP	1.000	T	T	40720545	G	T	40720545	3	4	176	1	0	0	0	0	1	0	0	0	9673	1261	44	3	309	3	MLX	17	40720545	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	4984245	40720545	40474665	83	43987											
TBX4	9496	genome.wustl.edu	37	chr17	59560599	59560599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccgccaccaccatgatgccgCggctgcccaccctctccgct	5	6	8	22	4	1	1	0	1	1	0	2	1	1	1	8	1	2	2	8	1	0	0	rs370445781		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr17:59560599C>T	ENST00000240335.1	+	8	1405	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.R455W	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	454					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R454W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CATGATGCCGCGGCTGCCCAC	0.622																																																	1	Substitution - Missense(1)	skin(1)						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	84	79	80		1360	5.3	1	17		80	0,8600		0,0,4300	no	missense	TBX4	NM_018488.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	454/546	59560599	1,13005	2203	4300	6503	SO:0001583	missense	0			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1360C>T	17.37:g.59560599C>T	ENSP00000240335:p.Arg454Trp		A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R455W	ENST00000240335.1	37	c.1363	CCDS11629.1	17	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463552	0.84425	2.27E-4	0.0	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.60040	0.22;0.22	5.34	5.34	0.76211	.	0.182292	0.50627	D	0.000116	T	0.74642	0.3743	M	0.66939	2.045	0.50313	D	0.999866	D;B	0.89917	1.0;0.035	D;B	0.78314	0.991;0.006	T	0.74222	-0.3735	9	.	.	.	.	18.0352	0.89298	0.0:1.0:0.0:0.0	.	455;454	A5PKU7;P57082	.;TBX4_HUMAN	W	455;454	ENSP00000377435:R455W;ENSP00000240335:R454W	.	R	+	1	2	TBX4	56915381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.584000	0.60971	2.497000	0.84241	0.655000	0.94253	CGG	TBX4	-	NULL	ENSG00000121075		0.622	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	HGNC	protein_coding	OTTHUMT00000449649.1	-	0	14	0	C	NM_018488		59560599	1	tier1	-	no_errors	ENST00000393853	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.998	T	T	59560599	C	T	59560599	3	4	176	1	0	0	0	0	1	0	0	0	15707	759	27	1	1390	1	TBX4	17	59560599	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	18840054	59560599	21634611	84	43988											
MRPL38	64978	genome.wustl.edu	37	chr17	73895597	73895597	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggtggtgtagattacCagggtgaggggcgtgcgtcc	5	10	20	6	2	0	2	0	1	0	1	1	2	1	2	2	5	2	1	2	5	2	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr17:73895597C>T	ENST00000309352.3	-	7	1406	c.869G>A	c.(868-870)tGc>tAc	p.C290Y	MRPL38_ENST00000585475.1_5'Flank|RP11-552F3.10_ENST00000587267.1_RNA|TRIM65_ENST00000269383.3_5'Flank|MRPL38_ENST00000409963.3_Splice_Site_p.C106Y	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	290						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)			TGTAGATTACCAGGGTGAGGG	0.607																																																	0													82	64	70					17																	73895597		2203	4297	6500	SO:0001630	splice_region_variant	0			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.869+1G>A	17.37:g.73895597C>T			B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP	p.C290Y	ENST00000309352.3	37	c.869	CCDS11733.2	17	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486802	0.63962	.	.	ENSG00000204316	ENST00000309352;ENST00000409963	T;T	0.21191	2.02;2.02	5.63	5.63	0.86233	.	0.046152	0.85682	D	0.000000	T	0.43100	0.1232	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.04216	-1.0968	9	.	.	.	-20.2979	19.6889	0.95989	0.0:1.0:0.0:0.0	.	290	Q96DV4	RM38_HUMAN	Y	290;106	ENSP00000308275:C290Y;ENSP00000387085:C106Y	.	C	-	2	0	MRPL38	71407192	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	7.434000	0.80377	2.676000	0.91093	0.511000	0.50034	TGC	MRPL38	-	superfamily_PtdEtn-bd_prot_PEBP	ENSG00000204316		0.607	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL38	HGNC	protein_coding	OTTHUMT00000328829.1	-	0	26	0	C	NM_032478	Missense_Mutation	73895597	-1	tier1	-	no_errors	ENST00000309352	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	T	T	73895597	C	T	73895597	5	4	176	1	0	0	0	0	0	0	1	0	9839	608	21	3	285	3	MRPL38	17	73895597	Splice_Site	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	14334998	73895597	7299613	85	43989											
VAPA	9218	genome.wustl.edu	37	chr18	9931846	9931846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacaaatcttaaattgcGaaatccatcggatagaaaag	18	9	6	8	2	1	1	0	0	1	1	3	3	2	2	1	1	2	0	1	1	8	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr18:9931846G>T	ENST00000400000.2	+	2	374	c.119G>T	c.(118-120)cGa>cTa	p.R40L	VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Missense_Mutation_p.R40L	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	40	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				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						CTTAAATTGCGAAATCCATCG	0.393																																																	0													89	91	90					18																	9931846		2053	4220	6273	SO:0001583	missense	0				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.119G>T	18.37:g.9931846G>T	ENSP00000382880:p.Arg40Leu		A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Missense_Mutation	SNP	pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom	p.R40L	ENST00000400000.2	37	c.119	CCDS11848.2	18	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184782	0.57909	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	T;T	0.72051	-0.62;-0.62	5.69	4.81	0.61882	PapD-like (2);	0.174068	0.51477	D	0.000088	T	0.73273	0.3566	L	0.51914	1.62	0.52099	D	0.999944	P;B	0.43857	0.819;0.131	P;B	0.50617	0.646;0.052	T	0.72047	-0.4408	9	.	.	.	-5.431	14.0867	0.64962	0.0732:0.0:0.9268:0.0	.	40;40	Q9P0L0;Q9P0L0-2	VAPA_HUMAN;.	L	40	ENSP00000345656:R40L;ENSP00000382880:R40L	.	R	+	2	0	VAPA	9921846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.747000	0.38298	1.511000	0.48818	0.655000	0.94253	CGA	VAPA	-	pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom	ENSG00000101558		0.393	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPA	HGNC	protein_coding	OTTHUMT00000254490.1	-	0	26	0	G			9931846	1	tier1	-	no_errors	ENST00000340541	ensembl	human	known	74_37	missense	42.86	44	33	SNP	1.000	T	T	9931846	G	T	9931846	3	4	176	1	0	0	0	0	1	0	0	0	17170	1058	37	2	125	2	VAPA	18	9931846	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		9931846	68145402	86	43990											
MC4R	4160	genome.wustl.edu	37	chr18	58038634	58038634	+	Missense_Mutation	SNP	T	T	A	0	1	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	tcccaggggatagcaacagaTgatctctttgaaggttttcc	10	12	10	9	0	1	3	0	2	1	1	4	4	3	4	2	3	2	2	2	3	3	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr18:58038634T>A	ENST00000299766.3	-	1	1367	c.949A>T	c.(949-951)Atc>Ttc	p.I317F		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	317			I -> T (in obesity; dbSNP:rs13447337). {ECO:0000269|PubMed:10199800}.		adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TAGCAACAGATGATCTCTTTG	0.408																																																	0			GRCh37	CM052897	MC4R	M							130	125	127					18																	58038634		2203	4300	6503	SO:0001583	missense	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.949A>T	18.37:g.58038634T>A	ENSP00000299766:p.Ile317Phe		B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.I317F	ENST00000299766.3	37	c.949	CCDS11976.1	18	.	.	.	.	.	.	.	.	.	.	T	12.57	1.978441	0.34942	.	.	ENSG00000166603	ENST00000299766	T	0.34667	1.35	6.06	4.91	0.64330	.	0.213333	0.48767	D	0.000164	T	0.25975	0.0633	L	0.31476	0.935	0.49389	D	0.999785	B	0.15141	0.012	B	0.13407	0.009	T	0.05886	-1.0858	10	0.41790	T	0.15	.	9.7244	0.40322	0.0:0.08:0.0:0.92	.	317	P32245	MC4R_HUMAN	F	317	ENSP00000299766:I317F	ENSP00000299766:I317F	I	-	1	0	MC4R	56189614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.016000	0.57159	2.324000	0.78689	0.533000	0.62120	ATC	MC4R	-	prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_Melancort_rcpt	ENSG00000166603		0.408	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1	-	0	14	0	T	NM_005912		58038634	-1	tier1	-	no_errors	ENST00000299766	ensembl	human	known	74_37	missense	53.66	19	22	SNP	1.000	A	A	58038634	T	A	58038634	3	1	176	1	0	0	0	0	1	0	0	0	9404	1464	51	5	53	5	MC4R	18	58038634	Missense_Mutation	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09	48106788	58038634	20038614	87	43991											
MUC16	94025	genome.wustl.edu	37	chr19	9050193	9050193	+	Missense_Mutation	SNP	T	T	C	0	1	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	cagagctgtggtggtggtctTcagagctgtggtggtggtct	4	13	18	6	0	3	2	1	0	2	2	3	2	3	2	0	6	2	2	0	6	0	1			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:9050193T>C	ENST00000397910.4	-	5	31641	c.31438A>G	c.(31438-31440)Aag>Gag	p.K10480E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10482	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						GTGGTGGTCTTCAGAGCTGTG	0.478																																																	0													410	404	406					19																	9050193		2116	4223	6339	SO:0001583	missense	0			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.31438A>G	19.37:g.9050193T>C	ENSP00000381008:p.Lys10480Glu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.K10480E	ENST00000397910.4	37	c.31438	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	7.108	0.575478	0.13623	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.43	-1.09	0.09904	.	.	.	.	.	T	0.02610	0.0079	L	0.40543	1.245	.	.	.	B	0.26845	0.161	B	0.26310	0.068	T	0.40757	-0.9546	8	0.87932	D	0	.	2.9285	0.05792	0.0:0.303:0.2442:0.4528	.	10480	B5ME49	.	E	10480	ENSP00000381008:K10480E	ENSP00000381008:K10480E	K	-	1	0	MUC16	8911193	0.002000	0.14202	0.000000	0.03702	0.074000	0.17049	0.062000	0.14389	-0.367000	0.08052	0.473000	0.43528	AAG	MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	18	0	T	NM_024690		9050193	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	18.60	35	8	SNP	0.000	C	C	9050193	T	C	9050193	3	2	176	1	0	0	0	0	1	0	0	0	10011	1792	62	4	12405	4	MUC16	19	9050193	Missense_Mutation	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09		9050193	50078790	88	43992											
MUC16	94025	genome.wustl.edu	37	chr19	9065422	9065423	+	Frame_Shift_Ins	INS	-	-	A																															gtggttgatgtgtctaatgtINSaaaggtactctctgatgtag																										TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:9065422_9065423insA	ENST00000397910.4	-	3	22226_22227	c.22023_22024insT	c.(22021-22026)tttacafs	p.T7342fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7344	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						GTGTCTAATGTAAAGGTACTCT	0.45																																																	0																																										SO:0001589	frameshift_variant	0			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.22024dupT	19.37:g.9065425_9065425dupA	ENSP00000381008:p.Thr7342fs		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T7341fs	ENST00000397910.4	37	c.22024_22023	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.45	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	26	0	-	NM_024690		9065423	-1	tier1		no_errors	ENST00000397910	ensembl	human	known	74_37	frame_shift_ins	40.58	41	28	INS	0.000:0.000	A	A	9065423	-	A	9065422	7	5	176	1	0	1	1	0	0	0	0	0	10011	1638	57	0	21827	0	MUC16	19	9065422	Frame_Shift_Ins	INS	-	TCGA-VR-AA7I-01A-11D-A403-09	15229	9065422	50063561	89	43993											
TRPM4	54795	genome.wustl.edu	37	chr19	49693513	49693513	+	Missense_Mutation	SNP	A	A	T	1	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	atatggccagcactacacccAtctgggccctggttctcgcc	7	9	9	16	1	2	0	0	0	2	0	3	0	2	0	4	3	2	2	4	3	2	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:49693513A>T	ENST00000252826.5	+	15	2194	c.2068A>T	c.(2068-2070)Atc>Ttc	p.I690F	TRPM4_ENST00000427978.2_Missense_Mutation_p.I690F|TRPM4_ENST00000355712.5_Missense_Mutation_p.I336F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	690					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)		CACTACACCCATCTGGGCCCT	0.602																																																	0													257	227	237					19																	49693513		2203	4300	6503	SO:0001583	missense	0			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.2068A>T	19.37:g.49693513A>T	ENSP00000252826:p.Ile690Phe		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.I690F	ENST00000252826.5	37	c.2068	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	a	8.853	0.944998	0.18356	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	D;D;D	0.83075	-1.68;-1.68;-1.68	4.99	1.43	0.22495	.	0.220096	0.38897	N	0.001529	T	0.77651	0.4162	L	0.39397	1.21	0.18873	N	0.999981	P;P;P;B	0.49559	0.877;0.925;0.874;0.008	B;P;P;B	0.48227	0.368;0.571;0.491;0.003	T	0.68723	-0.5333	10	0.51188	T	0.08	-7.2436	8.1025	0.30865	0.5335:0.0:0.4665:0.0	.	336;516;690;690	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	F	690;690;336	ENSP00000252826:I690F;ENSP00000407492:I690F;ENSP00000347944:I336F	ENSP00000252826:I690F	I	+	1	0	TRPM4	54385325	0.038000	0.19896	0.844000	0.33320	0.105000	0.19272	0.432000	0.21461	0.296000	0.22592	0.312000	0.20444	ATC	TRPM4	-	NULL	ENSG00000130529		0.602	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	-	0	18	0	A	NM_017636		49693513	1	tier1	-	no_errors	ENST00000252826	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.162	T	T	49693513	A	T	49693513	3	4	176	1	0	0	0	0	1	0	0	0	16636	217	8	5	2126	5	TRPM4	19	49693513	Missense_Mutation	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	40628091	49693513	9435470	90	43994											
FLT3LG	2323	genome.wustl.edu	37	chr19	49979702	49979702	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctctgcgggggcctctGgcggctggtcctggcacagc	3	7	18	13	2	2	0	0	0	2	0	3	1	3	1	2	7	3	3	2	7	0	0			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:49979702G>A	ENST00000594009.1	+	4	300	c.221G>A	c.(220-222)tGg>tAg	p.W74*	FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_Nonsense_Mutation_p.W74*|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000597551.1_Nonsense_Mutation_p.W74*|FLT3LG_ENST00000600429.1_Nonsense_Mutation_p.W74*|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Nonsense_Mutation_p.W74*	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	74					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GGGGGCCTCTGGCGGCTGGTC	0.667											OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28	29	29					19																	49979702		2203	4300	6503	SO:0001587	stop_gained	0			U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"Endogenous ligands"	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.221G>A	19.37:g.49979702G>A	ENSP00000469613:p.Trp74*	966	A0AVC2|B9EGH2|Q05C96	Nonsense_Mutation	SNP	pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core	p.W74*	ENST00000594009.1	37	c.221	CCDS12767.1	19	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551768	0.86127	.	.	ENSG00000090554	ENST00000204637;ENST00000344019	.	.	.	4.36	4.36	0.52297	.	0.443754	0.25487	N	0.030340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1202	12.7336	0.57210	0.0:0.0:1.0:0.0	.	.	.	.	X	74	.	ENSP00000204637:W74X	W	+	2	0	FLT3LG	54671514	1.000000	0.71417	0.989000	0.46669	0.669000	0.39330	4.542000	0.60677	2.131000	0.65755	0.549000	0.68633	TGG	FLT3LG	-	pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core	ENSG00000090554		0.667	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FLT3LG	HGNC	protein_coding	OTTHUMT00000465305.1	-	0	31	0	G			49979702	1	tier1	-	no_errors	ENST00000594009	ensembl	human	known	74_37	nonsense	40.00	24	16	SNP	0.951	A	A	49979702	G	A	49979702	4	1	176	1	0	0	0	0	0	1	0	0	5965	1357	47	3	235	3	FLT3LG	19	49979702	Nonsense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	286189	49979702	9149281	91	43995											
SHANK1	50944	genome.wustl.edu	37	chr19	51189602	51189602	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgcggccaggatttcGtccagtttgtctaggggtag	6	12	15	8	2	1	1	0	1	1	0	3	2	2	2	2	4	2	3	2	4	2	4	rs369883291		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:51189602G>A	ENST00000293441.1	-	20	2487	c.2469C>T	c.(2467-2469)gaC>gaT	p.D823D	SHANK1_ENST00000359082.3_Silent_p.D814D|SHANK1_ENST00000391813.1_Silent_p.D210D|SHANK1_ENST00000391814.1_Silent_p.D831D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	823					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)		CCAGGATTTCGTCCAGTTTGT	0.567																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	114	99	104		2469	-4	0.9	19		104	0,8600		0,0,4300	no	coding-synonymous	SHANK1	NM_016148.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		823/2162	51189602	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.2469C>T	19.37:g.51189602G>A			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.D831	ENST00000293441.1	37	c.2493	CCDS12799.1	19																																																																																			SHANK1	-	NULL	ENSG00000161681		0.567	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	-	0	17	0	G	NM_016148		51189602	-1	tier1	-	no_errors	ENST00000391814	ensembl	human	known	74_37	silent	31.25	22	10	SNP	0.998	A	A	51189602	G	A	51189602	2	1	176	1	0	0	0	0	0	0	0	1	14309	1136	40	1		1	SHANK1	19	51189602	Silent	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	1209900	51189602	7939381	92	43996											
ZNF160	90338	genome.wustl.edu	37	chr19	53571447	53571448	+	Frame_Shift_Ins	INS	-	-	A																															tttctccagtgtggattgccINSatatgggtagttagacttga																								rs545488820		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:53571447_53571448insA	ENST00000429604.1	-	7	2754_2755	c.2339_2340insT	c.(2338-2340)atgfs	p.M780fs	ZNF160_ENST00000599056.1_Frame_Shift_Ins_p.M780fs|ZNF160_ENST00000418871.1_Frame_Shift_Ins_p.M780fs|ZNF160_ENST00000601421.1_Frame_Shift_Ins_p.M744fs	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	780					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)		TGTGGATTGCCATATGGGTAGT	0.45																																																	0																																										SO:0001589	frameshift_variant	0			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.2340dupT	19.37:g.53571448_53571448dupA	ENSP00000406201:p.Met780fs		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M780fs	ENST00000429604.1	37	c.2340_2339	CCDS12859.1	19																																																																																			ZNF160	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170949		0.45	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2		0	39	0	-	NM_033288		53571448	-1	tier1		no_errors	ENST00000418871	ensembl	human	known	74_37	frame_shift_ins	20.73	65	17	INS	0.000:0.001	A	A	53571448	-	A	53571447	7	5	176	1	0	1	1	0	0	0	0	0	17787	594	21	0	120	0	ZNF160	19	53571447	Frame_Shift_Ins	INS	-	TCGA-VR-AA7I-01A-11D-A403-09	2381845	53571447	5557536	93	43997											
ZNF460	10794	genome.wustl.edu	37	chr19	57802649	57802649	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggcaccagcggactcacaAtggagataagccctttgtgt	11	8	11	11	2	1	1	1	0	0	1	1	3	1	2	2	3	2	1	2	3	2	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:57802649A>T	ENST00000360338.3	+	3	1062	c.740A>T	c.(739-741)aAt>aTt	p.N247I	ZNF460_ENST00000537645.1_Missense_Mutation_p.N206I	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGGACTCACAATGGAGATAAG	0.537																																																	0													87	76	80					19																	57802649		2203	4300	6503	SO:0001583	missense	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.740A>T	19.37:g.57802649A>T	ENSP00000353491:p.Asn247Ile		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N247I	ENST00000360338.3	37	c.740	CCDS12949.1	19	.	.	.	.	.	.	.	.	.	.	A	4.866	0.160898	0.09287	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.17370	2.28;2.28	1.49	-2.93	0.05598	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08447	0.0210	N	0.16656	0.425	0.23010	N	0.998438	B	0.15141	0.012	B	0.19666	0.026	T	0.34900	-0.9810	9	0.87932	D	0	.	2.0036	0.03472	0.2033:0.4793:0.1805:0.1369	.	247	Q14592	ZN460_HUMAN	I	206;247	ENSP00000446167:N206I;ENSP00000353491:N247I	ENSP00000353491:N247I	N	+	2	0	ZNF460	62494461	0.009000	0.17119	0.050000	0.19076	0.017000	0.09413	0.216000	0.17585	-0.790000	0.04492	-1.017000	0.02453	AAT	ZNF460	-	pfscan_Znf_C2H2	ENSG00000197714		0.537	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	HGNC	protein_coding	OTTHUMT00000465727.1	-	0	18	0	A	NM_006635		57802649	1	tier1	-	no_errors	ENST00000360338	ensembl	human	known	74_37	missense	47.37	20	18	SNP	0.952	T	T	57802649	A	T	57802649	3	4	176	1	0	0	0	0	1	0	0	0	17972	101	4	5	750	5	ZNF460	19	57802649	Missense_Mutation	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	4231202	57802649	1326334	94	43998											
ZNF587	84914	genome.wustl.edu	37	chr19	58371221	58371221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaataagcacagcgtgactAtacatcagaggattcacact	15	8	8	10	1	2	2	2	1	0	1	2	3	2	3	0	1	3	2	0	1	4	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:58371221A>G	ENST00000339656.5	+	3	1623	c.1441A>G	c.(1441-1443)Ata>Gta	p.I481V	ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.I438V|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.I480V|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597832.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	481					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)		CAGCGTGACTATACATCAGAG	0.428																																					Pancreas(59;641 1233 1885 20055 50741)												0													149	145	147					19																	58371221		2203	4300	6503	SO:0001583	missense	0			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.1441A>G	19.37:g.58371221A>G	ENSP00000345479:p.Ile481Val		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I481V	ENST00000339656.5	37	c.1441	CCDS12964.1	19	.	.	.	.	.	.	.	.	.	.	.	2.562	-0.301580	0.05495	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.07327	3.2;3.2;3.2	1.44	0.146	0.14833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03095	0.0091	N	0.04090	-0.28	0.22066	N	0.999382	B;B	0.21071	0.041;0.051	B;B	0.20955	0.025;0.032	T	0.43798	-0.9369	8	0.25106	T	0.35	.	2.7905	0.05387	0.5547:0.2687:0.1766:0.0	.	480;481	G3V0H5;Q96SQ5	.;ZN587_HUMAN	V	438;480;481;481;438	ENSP00000393865:I480V;ENSP00000345479:I481V;ENSP00000406999:I438V	ENSP00000345479:I481V	I	+	1	0	ZNF587	63063033	0.000000	0.05858	0.022000	0.16811	0.349000	0.29174	-0.096000	0.11059	-0.234000	0.09782	0.164000	0.16699	ATA	ZNF587	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198466		0.428	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000337594.2	-	0	28	0	A	NM_032828		58371221	1	tier1	-	no_errors	ENST00000339656	ensembl	human	known	74_37	missense	42.35	49	36	SNP	0.000	G	G	58371221	A	G	58371221	3	3	176	1	0	0	0	0	1	0	0	0	18068	449	16	4	1451	4	ZNF587	19	58371221	Missense_Mutation	SNP	A	TCGA-VR-AA7I-01A-11D-A403-09	568572	58371221	757762	95	43999											
DHX35	60625	genome.wustl.edu	37	chr20	37650518	37650518	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcaggaaattctaagcatCgctgccatgatgcagatcca	12	10	8	11	1	2	2	1	1	2	1	5	3	3	3	2	1	3	3	2	1	2	2	rs534416816	byFrequency	TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr20:37650518C>T	ENST00000252011.3	+	16	1566	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	DHX35_ENST00000373325.2_Silent_p.I511I|DHX35_ENST00000373323.4_Silent_p.I480I	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	511					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)				TTCTAAGCATCGCTGCCATGA	0.443													C|||	2	0.000399361	0	0.0029	5008	,	,		15185	0		0	False		,,,				2504	0																0													174	171	172					20																	37650518		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1533C>T	20.37:g.37650518C>T			A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I511	ENST00000252011.3	37	c.1533	CCDS13310.1	20																																																																																			DHX35	-	pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom	ENSG00000101452		0.443	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2	-	0	29	0	C	NM_021931		37650518	1	tier1	-	no_errors	ENST00000252011	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.805	T	T	37650518	C	T	37650518	2	4	176	1	0	0	0	0	0	0	0	1	4522	874	31	1		1	DHX35	20	37650518	Silent	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09		37650518	25375002	96	44000											
ATP9A	10079	genome.wustl.edu	37	chr20	50221436	50221436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtcatgagccagtgcCaggtctggatggtcagcgcc	7	8	13	13	1	3	1	2	1	1	0	3	2	3	2	4	3	3	0	4	3	0	0			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr20:50221436C>A	ENST00000338821.5	-	27	3191	c.2927G>T	c.(2926-2928)tGg>tTg	p.W976L	ATP9A_ENST00000311637.5_Missense_Mutation_p.W840L|ATP9A_ENST00000402822.1_Missense_Mutation_p.W855L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	976					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						GAGCCAGTGCCAGGTCTGGAT	0.582																																																	0													65	48	54					20																	50221436		2203	4300	6503	SO:0001583	missense	0			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.2927G>T	20.37:g.50221436C>A	ENSP00000342481:p.Trp976Leu		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.W976L	ENST00000338821.5	37	c.2927	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037527	0.93630	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.57752	0.38;0.38;0.38	4.91	4.91	0.64330	.	0.113982	0.64402	D	0.000004	T	0.79137	0.4395	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.91635	0.954;0.999	D	0.84868	0.0823	10	0.87932	D	0	-21.4239	18.1138	0.89543	0.0:1.0:0.0:0.0	.	855;976	O75110-2;O75110	.;ATP9A_HUMAN	L	840;976;855	ENSP00000309086:W840L;ENSP00000342481:W976L;ENSP00000385875:W855L	ENSP00000309086:W840L	W	-	2	0	ATP9A	49654843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.712000	0.84684	2.261000	0.74972	0.655000	0.94253	TGG	ATP9A	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000054793		0.582	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	-	0	18	0	C	NM_006045		50221436	-1	tier1	-	no_errors	ENST00000338821	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	A	A	50221436	C	A	50221436	3	1	176	1	0	0	0	0	1	0	0	0	1199	595	21	3	224	3	ATP9A	20	50221436	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	12570918	50221436	12804084	97	44001											
ZBTB46	140685	genome.wustl.edu	37	chr20	62421604	62421604	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ctcgttcgccgtgccagccaCggggagatgctcctcccagc	5	7	12	17	4	0	1	0	0	0	1	4	2	2	1	5	2	4	2	5	2	0	1	rs374159825		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr20:62421604C>T	ENST00000245663.4	-	2	657	c.507G>A	c.(505-507)ccG>ccA	p.P169P	ZBTB46_ENST00000302995.2_Silent_p.P169P|ZBTB46_ENST00000395104.1_Silent_p.P169P|ZBTB46_ENST00000480766.1_5'Flank	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	169					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)					GTGCCAGCCACGGGGAGATGC	0.637													C|||	1	0.000199681	0	0	5008	,	,		19008	0		0	False		,,,				2504	0.001																0								C		0,4406		0,0,2203	24	22	23		507	-11.3	0.8	20		23	1,8599		0,1,4299	no	coding-synonymous	ZBTB46	NM_025224.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		169/590	62421604	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.507G>A	20.37:g.62421604C>T			E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P169	ENST00000245663.4	37	c.507	CCDS13538.1	20																																																																																			ZBTB46	-	NULL	ENSG00000130584		0.637	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	HGNC	protein_coding	OTTHUMT00000080232.2	-	0	8	0	C	NM_025224		62421604	-1	tier1	-	no_errors	ENST00000245663	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.137	T	T	62421604	C	T	62421604	2	4	176	1	0	0	0	0	0	0	0	1	17595	523	19	1		1	ZBTB46	20	62421604	Silent	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	12200168	62421604	603916	98	44002											
COL6A1	1291	genome.wustl.edu	37	chr21	47423346	47423346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcaccatcctgctggacGgctccgccagcgtgggcagc	7	6	12	16	3	1	0	1	0	0	0	3	1	3	1	4	3	3	3	4	3	0	0			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr21:47423346G>A	ENST00000361866.3	+	35	2620	c.2506G>A	c.(2506-2508)Ggc>Agc	p.G836S	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	836	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.			DGSAS -> EPPPD (in Ref. 1; CAA33889). {ECO:0000305}.	axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCTGCTGGACGGCTCCGCCAG	0.692																																																	0													18	21	20					21																	47423346		2172	4225	6397	SO:0001583	missense	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2506G>A	21.37:g.47423346G>A	ENSP00000355180:p.Gly836Ser		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G836S	ENST00000361866.3	37	c.2506	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854177	0.51270	.	.	ENSG00000142156	ENST00000361866	D	0.83673	-1.75	4.84	1.48	0.22813	von Willebrand factor, type A (3);	0.166096	0.51477	N	0.000087	T	0.53867	0.1823	N	0.03154	-0.405	0.26809	N	0.969044	B	0.10296	0.003	B	0.08055	0.003	T	0.47724	-0.9095	10	0.02654	T	1	-13.0292	5.7614	0.18203	0.6655:0.0:0.3345:0.0	.	836	P12109	CO6A1_HUMAN	S	836	ENSP00000355180:G836S	ENSP00000355180:G836S	G	+	1	0	COL6A1	46247774	1.000000	0.71417	0.996000	0.52242	0.889000	0.51656	1.711000	0.37930	0.451000	0.26802	-0.274000	0.10170	GGC	COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142156		0.692	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0	13	0	G	NM_001848		47423346	1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	74.19	8	23	SNP	1.000	A	A	47423346	G	A	47423346	3	1	176	1	0	0	0	0	1	0	0	0	3706	1116	39	1	2644	1	COL6A1	21	47423346	Missense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09		47423346	706549	99	44003											
OR11H1	81061	genome.wustl.edu	37	chr22	16449141	16449141	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagaggaagttaccaaaaaTaactaatgagcttagagtgt	19	9	9	4	0	0	3	0	1	0	2	0	4	0	4	1	1	3	2	1	1	8	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr22:16449141T>A	ENST00000252835.4	-	1	664	c.664A>T	c.(664-666)Att>Ttt	p.I222F		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	222						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)		TTACCAAAAATAACTAATGAG	0.423																																																	0													28	28	28					22																	16449141		1500	3163	4663	SO:0001583	missense	0			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.664A>T	22.37:g.16449141T>A	ENSP00000252835:p.Ile222Phe		Q6IEX0|Q96R32	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I222F	ENST00000252835.4	37	c.664	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	t	12.97	2.097487	0.37048	.	.	ENSG00000130538	ENST00000252835	T	0.29397	1.57	1.88	0.454	0.16644	GPCR, rhodopsin-like superfamily (1);	0.175251	0.26816	N	0.022344	T	0.28499	0.0705	L	0.55834	1.745	0.09310	N	1	P	0.42483	0.781	P	0.47044	0.535	T	0.09228	-1.0684	10	0.54805	T	0.06	.	2.2891	0.04134	0.0:0.2077:0.3128:0.4795	.	222	Q8NG94	O11H1_HUMAN	F	222	ENSP00000252835:I222F	ENSP00000252835:I222F	I	-	1	0	OR11H1	14829141	0.000000	0.05858	0.998000	0.56505	0.960000	0.62799	-1.154000	0.03166	0.826000	0.34661	0.302000	0.19851	ATT	OR11H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000130538		0.423	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	HGNC	protein_coding	OTTHUMT00000074923.2	-	0	23	0	T	NM_001005239		16449141	-1	tier1	-	no_errors	ENST00000252835	ensembl	human	known	74_37	missense	21.05	45	12	SNP	0.122	A	A	16449141	T	A	16449141	3	1	176	1	0	0	0	0	1	0	0	0	10965	1406	49	5	318	5	OR11H1	22	16449141	Missense_Mutation	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09		16449141	34855425	100	44004											
ZNF70	7621	genome.wustl.edu	37	chr22	24086011	24086011	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctccccagaatgaatCttctgatggcgaatcaggtg	10	11	10	10	1	4	3	1	2	3	1	5	4	4	3	2	2	1	1	2	2	3	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr22:24086011C>A	ENST00000341976.3	-	2	1777	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CAGAATGAATCTTCTGATGGC	0.527																																																	0													105	110	108					22																	24086011		2203	4300	6503	SO:0001583	missense	0			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1317G>T	22.37:g.24086011C>A	ENSP00000339314:p.Lys439Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K439N	ENST00000341976.3	37	c.1317	CCDS13812.1	22	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468323	0.43839	.	.	ENSG00000187792	ENST00000341976	T	0.12147	2.71	3.55	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26593	0.0650	M	0.64260	1.97	0.24730	N	0.993096	D	0.69078	0.997	P	0.61397	0.888	T	0.13899	-1.0492	9	0.72032	D	0.01	.	9.351	0.38138	0.0:0.629:0.0:0.371	.	439	Q9UC06	ZNF70_HUMAN	N	439	ENSP00000339314:K439N	ENSP00000339314:K439N	K	-	3	2	ZNF70	22416011	0.000000	0.05858	0.942000	0.38095	0.707000	0.40811	-0.751000	0.04803	-0.269000	0.09298	0.555000	0.69702	AAG	ZNF70	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187792		0.527	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF70	HGNC	protein_coding	OTTHUMT00000319881.1	-	0	20	0	C	NM_021916		24086011	-1	tier1	-	no_errors	ENST00000341976	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.902	A	A	24086011	C	A	24086011	3	1	176	1	0	0	0	0	1	0	0	0	18151	912	32	3	27	3	ZNF70	22	24086011	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	7636870	24086011	27218555	101	44005											
MAGEB4	4115	genome.wustl.edu	37	chrX	30261127	30261127	+	Missense_Mutation	SNP	T	T	G	0	1	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	cctggagtttttggccaaggTgaatgacaccacccccaata	11	9	9	12	0	0	2	0	2	0	0	0	3	0	3	5	3	0	1	5	3	4	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrX:30261127T>G	ENST00000378982.2	+	1	1071	c.875T>G	c.(874-876)gTg>gGg	p.V292G	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	292	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TTGGCCAAGGTGAATGACACC	0.532																																																	0													75	74	75					X																	30261127		2202	4300	6502	SO:0001583	missense	0				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.875T>G	X.37:g.30261127T>G	ENSP00000368266:p.Val292Gly		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V292G	ENST00000378982.2	37	c.875	CCDS14221.1	X	.	.	.	.	.	.	.	.	.	.	T	14.06	2.424098	0.43020	.	.	ENSG00000120289	ENST00000378982	T	0.02121	4.44	3.16	1.99	0.26369	.	0.386963	0.21499	U	0.073547	T	0.10423	0.0255	M	0.89478	3.035	0.09310	N	0.999997	D	0.67145	0.996	D	0.66497	0.944	T	0.08249	-1.0731	10	0.87932	D	0	.	4.4412	0.11575	0.0:0.1587:0.0:0.8413	.	292	O15481	MAGB4_HUMAN	G	292	ENSP00000368266:V292G	ENSP00000368266:V292G	V	+	2	0	MAGEB4	30171048	0.010000	0.17322	0.000000	0.03702	0.349000	0.29174	1.261000	0.32980	0.452000	0.26830	0.486000	0.48141	GTG	MAGEB4	-	pfscan_MAGE	ENSG00000120289		0.532	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	HGNC	protein_coding	OTTHUMT00000056159.1	-	0	12	0	T	NM_002367		30261127	1	tier1	-	no_errors	ENST00000378982	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.000	G	G	30261127	T	G	30261127	3	3	176	1	0	0	0	0	1	0	0	0	9216	1696	59	4	877	4	MAGEB4	23	30261127	Missense_Mutation	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09		30261127	125009433	102	44006											
GRIA3	2892	genome.wustl.edu	37	chrX	122318472	122318472	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggtcattctcacggaGgattccccaacaccatcagc	9	11	8	13	1	3	0	3	0	1	0	5	2	4	2	3	3	2	0	3	3	1	4			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrX:122318472G>T	ENST00000371251.1	+	1	137	c.85G>T	c.(85-87)Gga>Tga	p.G29*	GRIA3_ENST00000371264.3_Nonsense_Mutation_p.G29*|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000264357.5_Nonsense_Mutation_p.G29*|GRIA3_ENST00000541091.1_5'Flank|GRIA3_ENST00000371256.5_Nonsense_Mutation_p.G29*|GRIA3_ENST00000542149.1_Nonsense_Mutation_p.G29*|GRIA3_ENST00000371266.1_Nonsense_Mutation_p.G29*			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	29					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTCTCACGGAGGATTCCCCAA	0.587																																																	0													92	91	91					X																	122318472		2203	4300	6503	SO:0001587	stop_gained	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.85G>T	X.37:g.122318472G>T	ENSP00000360297:p.Gly29*		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Nonsense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G29*	ENST00000371251.1	37	c.85	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.784412	0.98489	.	.	ENSG00000125675	ENST00000371266;ENST00000264357;ENST00000371264;ENST00000542149;ENST00000335161;ENST00000371256;ENST00000371251	.	.	.	5.83	5.83	0.93111	.	0.057625	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4774	0.87662	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000264357:G29X	G	+	1	0	GRIA3	122146153	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.890000	0.69774	2.453000	0.82957	0.600000	0.82982	GGA	GRIA3	-	superfamily_Peripla_BP_I	ENSG00000125675		0.587	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	-	0	52	0	G	NM_000828		122318472	1	tier1	-	no_errors	ENST00000264357	ensembl	human	known	74_37	nonsense	50.83	89	92	SNP	1.000	T	T	122318472	G	T	122318472	4	4	176	1	0	0	0	0	0	1	0	0	6796	1001	35	3	87	3	GRIA3	23	122318472	Nonsense_Mutation	SNP	G	TCGA-VR-AA7I-01A-11D-A403-09	92057345	122318472	32952088	103	44007											
DCAF12L1	139170	genome.wustl.edu	37	chrX	125685222	125685222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctccagaggcctgcatagTtcccatggaggcctgcaggg	8	7	14	12	0	0	1	0	0	0	1	2	2	2	2	4	4	3	4	4	4	1	2			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrX:125685222T>C	ENST00000371126.1	-	1	1612	c.1370A>G	c.(1369-1371)aAc>aGc	p.N457S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	457								p.N457T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCTGCATAGTTCCCATGGAG	0.542																																																	1	Substitution - Missense(1)	urinary_tract(1)											68	69	69					X																	125685222		2203	4300	6503	SO:0001583	missense	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1370A>G	X.37:g.125685222T>C	ENSP00000360167:p.Asn457Ser		Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N457S	ENST00000371126.1	37	c.1370	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376717	0.61735	.	.	ENSG00000198889	ENST00000371126	T	0.20463	2.07	3.85	3.85	0.44370	.	0.194029	0.25572	N	0.029752	T	0.24198	0.0586	L	0.52126	1.63	0.34467	D	0.702431	P	0.52316	0.952	P	0.46885	0.53	T	0.41538	-0.9503	10	0.72032	D	0.01	.	10.0925	0.42456	0.0:0.0:0.0:1.0	.	457	Q5VU92	DC121_HUMAN	S	457	ENSP00000360167:N457S	ENSP00000360167:N457S	N	-	2	0	DCAF12L1	125512903	1.000000	0.71417	0.055000	0.19348	0.841000	0.47740	6.993000	0.76245	1.743000	0.51761	0.417000	0.27973	AAC	DCAF12L1	-	NULL	ENSG00000198889		0.542	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0	21	0	T	NM_178470		125685222	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	missense	53.85	30	35	SNP	0.999	C	C	125685222	T	C	125685222	3	2	176	1	0	0	0	0	1	0	0	0	4273	1725	60	4	25	4	DCAF12L1	23	125685222	Missense_Mutation	SNP	T	TCGA-VR-AA7I-01A-11D-A403-09	3366750	125685222	29585338	104	44008											
MAGEC1	9947	genome.wustl.edu	37	chrX	140994796	140994796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctccagattgttccaagtCttcctgagtgggaggactcc	7	12	10	12	0	2	2	0	1	2	1	6	4	5	4	4	2	0	1	4	2	1	3			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrX:140994796C>T	ENST00000285879.4	+	4	1892	c.1606C>T	c.(1606-1608)Ctt>Ttt	p.L536F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	536										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)					TGTTCCAAGTCTTCCTGAGTG	0.532										HNSCC(15;0.026)																																							0													142	150	147					X																	140994796		2203	4300	6503	SO:0001583	missense	0			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.1606C>T	X.37:g.140994796C>T	ENSP00000285879:p.Leu536Phe		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.L536F	ENST00000285879.4	37	c.1606	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	7.627	0.678144	0.14841	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	.	.	.	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.33941	D	0.643293	P	0.36647	0.563	B	0.26094	0.066	T	0.55029	-0.8204	8	0.54805	T	0.06	.	7.5678	0.27890	0.0:0.9999:0.0:1.0E-4	.	536	O60732	MAGC1_HUMAN	F	536	ENSP00000285879:L536F	ENSP00000285879:L536F	L	+	1	0	MAGEC1	140822462	0.001000	0.12720	0.008000	0.14137	0.008000	0.06430	-0.083000	0.11286	0.139000	0.18822	0.141000	0.15989	CTT	MAGEC1	-	NULL	ENSG00000155495		0.532	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0	16	0	C	NM_005462		140994796	1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	53.33	35	40	SNP	0.505	T	T	140994796	C	T	140994796	3	4	176	1	0	0	0	0	1	0	0	0	9218	913	32	3	1612	3	MAGEC1	23	140994796	Missense_Mutation	SNP	C	TCGA-VR-AA7I-01A-11D-A403-09	15309574	140994796	14275764	105	44009											
PRAMEF6	440561	genome.wustl.edu	37	chr1	12998648	12998648	+	Missense_Mutation	SNP	T	T	C	0	1	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	agccctaatttgagcaaatcTgctccagcagagagtaccat	13	9	8	11	0	1	2	0	1	1	1	2	3	2	2	3	0	5	4	3	0	3	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:12998648T>C	ENST00000376189.1	-	4	1387	c.1288A>G	c.(1288-1290)Aga>Gga	p.R430G	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.R430G|PRAMEF6_ENST00000376192.5_Missense_Mutation_p.R430G	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	430					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)|kidney(1)|lung(5)|urinary_tract(2)	9	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)		TGAGCAAATCTGCTCCAGCAG	0.507																																																	0													1	1	1					1																	12998648		52	339	391	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"-"	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.1288A>G	1.37:g.12998648T>C	ENSP00000365360:p.Arg430Gly		A0AUJ9	Missense_Mutation	SNP	NULL	p.R430G	ENST00000376189.1	37	c.1288	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	10.46	1.357651	0.24598	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000376192;ENST00000355096	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	1.29	1.29	0.21616	.	0.822734	0.10980	N	0.612781	T	0.65913	0.2737	M	0.85462	2.755	0.09310	N	0.999999	D;D	0.71674	0.998;0.996	D;D	0.74674	0.984;0.944	T	0.50684	-0.8799	10	0.72032	D	0.01	.	4.7836	0.13215	0.0:0.0:0.0:1.0	.	430;430	Q5TYX0;Q5VXH4	PRAM5_HUMAN;PRAM6_HUMAN	G	430	ENSP00000365360:R430G;ENSP00000401281:R430G;ENSP00000365363:R430G;ENSP00000347211:R430G	ENSP00000347211:R430G	R	-	1	2	PRAMEF6	12921235	0.001000	0.12720	0.007000	0.13788	0.006000	0.05464	0.648000	0.24828	0.852000	0.35287	0.325000	0.21440	AGA	PRAMEF6	-	NULL	ENSG00000232423		0.507	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0	16	0	T	NM_001010889		12998648	-1	tier1	-	no_errors	ENST00000355096	ensembl	human	known	74_37	missense	66.67	1	2	SNP	0.007	C	C	12998648	T	C	12998648	3	2	177	1	0	0	0	0	1	0	0	0	12480	1588	55	4	146	4	PRAMEF6	1	12998648	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09		12998648	236251973	1	44010											
PRAMEF17	391004	genome.wustl.edu	37	chr1	13717114	13717114	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcagaaatttattgaaaAgggtatacccagacagtatc	15	12	8	6	0	1	3	1	1	0	2	2	3	1	3	1	1	1	3	1	1	7	7			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:13717114A>G	ENST00000376098.4	+	2	627	c.601A>G	c.(601-603)Agg>Ggg	p.R201G		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	201					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTATTGAAAAGGGTATACCC	0.418																																																	0													3	4	4					1																	13717114		1363	3046	4409	SO:0001583	missense	0				CCDS41264.1	1p36.21	2013-01-17			ENSG00000204479	ENSG00000204479		"-"	29485	protein-coding gene	gene with protein product							Standard	NM_001099851		Approved	OTTHUMG00000007909	uc009vnz.1	Q5VTA0	OTTHUMG00000007909	ENST00000376098.4:c.601A>G	1.37:g.13717114A>G	ENSP00000365266:p.Arg201Gly		B2RUU4	Missense_Mutation	SNP	NULL	p.R201G	ENST00000376098.4	37	c.601	CCDS41264.1	1	.	.	.	.	.	.	.	.	.	.	A	4.319	0.058592	0.08339	.	.	ENSG00000204479	ENST00000376098	T	0.14766	2.48	1.09	-0.0828	0.13697	.	1.165390	0.06152	N	0.674304	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.32010	0.351	B	0.32465	0.146	T	0.34775	-0.9815	10	0.62326	D	0.03	.	2.7668	0.05322	0.6216:0.0:0.3784:0.0	.	201	Q5VTA0	PRA17_HUMAN	G	201	ENSP00000365266:R201G	ENSP00000365266:R201G	R	+	1	2	PRAMEF17	13589701	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.884000	0.04166	-0.030000	0.13804	0.373000	0.22412	AGG	PRAMEF17	-	NULL	ENSG00000204479		0.418	PRAMEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF17	HGNC	protein_coding	OTTHUMT00000021780.2	-	0	40	0	A	NM_001099851		13717114	1	tier1	-	no_errors	ENST00000376098	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.000	G	G	13717114	A	G	13717114	3	3	177	1	0	0	0	0	1	0	0	0	12474	63	3	4	607	4	PRAMEF17	1	13717114	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	718466	13717114	235533507	2	44011											
RNF186	54546	genome.wustl.edu	37	chr1	20141125	20141125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagcaggagtaggtgcGcggccaggcgccgggctgcc	6	3	19	13	4	0	0	0	0	0	0	0	1	0	1	4	6	3	3	4	6	1	1	rs372463789		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:20141125G>A	ENST00000375121.2	-	1	646	c.470C>T	c.(469-471)gCg>gTg	p.A157V	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	157						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTAGGTGCGCGGCCAGGCG	0.612																																																	0								G	VAL/ALA	0,4406		0,0,2203	95	111	106		470	2.1	0	1		106	1,8599	2.2+/-6.3	0,1,4299	no	missense	RNF186	NM_019062.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	157/228	20141125	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"RING-type (C3HC4) zinc fingers"	25978	protein-coding gene	gene with protein product	"hypothetical protein FLJ20225"					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.470C>T	1.37:g.20141125G>A	ENSP00000364263:p.Ala157Val		Q53GE0	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.A157V	ENST00000375121.2	37	c.470	CCDS199.1	1	.	.	.	.	.	.	.	.	.	.	G	0.464	-0.887729	0.02511	0.0	1.16E-4	ENSG00000178828	ENST00000375121	T	0.28255	1.62	5.61	2.14	0.27477	.	0.457119	0.18385	N	0.142843	T	0.11623	0.0283	N	0.15975	0.35	0.09310	N	1	B	0.16802	0.019	B	0.13407	0.009	T	0.32428	-0.9907	10	0.02654	T	1	-7.6977	2.9813	0.05954	0.5257:0.0:0.2672:0.2071	.	157	Q9NXI6	RN186_HUMAN	V	157	ENSP00000364263:A157V	ENSP00000364263:A157V	A	-	2	0	RNF186	20013712	0.645000	0.27286	0.017000	0.16124	0.683000	0.39861	1.071000	0.30666	0.619000	0.30197	-0.140000	0.14226	GCG	RNF186	-	NULL	ENSG00000178828		0.612	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF186	HGNC	protein_coding	OTTHUMT00000007694.1	-	0	62	0	G	NM_019062		20141125	-1	tier1	-	no_errors	ENST00000375121	ensembl	human	known	74_37	missense	26.00	37	13	SNP	0.001	A	A	20141125	G	A	20141125	3	1	177	1	0	0	0	0	1	0	0	0	13514	1087	38	1	217	1	RNF186	1	20141125	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	6424011	20141125	229109496	3	44012											
TSSK3	81629	genome.wustl.edu	37	chr1	32828359	32828359	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaagaccattggggaaggGacctactcaaaagtcaaaga	16	5	12	8	0	2	2	2	0	0	2	2	4	2	4	2	4	1	1	2	4	6	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:32828359G>T	ENST00000373534.3	+	1	562	c.57G>T	c.(55-57)ggG>ggT	p.G19G	FAM229A_ENST00000432622.1_5'Flank|FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	19	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				TTGGGGAAGGGACCTACTCAA	0.507																																																	0													108	116	113					1																	32828359		2203	4300	6503	SO:0001819	synonymous_variant	0			AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"serine/threonine kinase 22C (spermiogenesis associated)"	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.57G>T	1.37:g.32828359G>T			Q5TEE5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G19	ENST00000373534.3	37	c.57	CCDS362.1	1																																																																																			TSSK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000162526		0.507	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK3	HGNC	protein_coding	OTTHUMT00000020049.1		0	78	0	G			32828359	1			no_errors	ENST00000373534	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T	T	32828359	G	T	32828359	2	4	177	1	0	0	0	0	0	0	0	1	16718	1161	41	3		3	TSSK3	1	32828359	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	12687234	32828359	216422262	4	44013											
HSPB11	51668	genome.wustl.edu	37	chr1	54387359	54387359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagactactgttccttctgCagaaacgctatgcacagatg	11	11	9	10	1	1	3	0	1	1	3	2	4	2	3	1	0	4	4	1	0	3	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:54387359C>T	ENST00000194214.5	-	6	789	c.400G>A	c.(400-402)Gca>Aca	p.A134T	HSPB11_ENST00000489675.1_5'UTR|HSPB11_ENST00000371378.2_Intron	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	134					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						GTTCCTTCTGCAGAAACGCTA	0.348																																																	0													120	111	113					1																	54387359		1866	4115	5981	SO:0001583	missense	0			AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"Intraflagellar transport homologs", "Heat shock proteins / HSPB"	25019	protein-coding gene	gene with protein product	"intraflagellar transport 25 homolog (Chlamydomonas)"		"chromosome 1 open reading frame 41"	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.400G>A	1.37:g.54387359C>T	ENSP00000194214:p.Ala134Thr		A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like	p.A134T	ENST00000194214.5	37	c.400	CCDS41341.1	1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647011	0.47258	.	.	ENSG00000081870	ENST00000194214;ENST00000371378	T;T	0.81163	-1.46;-1.46	5.27	4.15	0.48705	Galactose-binding domain-like (1);	0.251014	0.38436	N	0.001691	T	0.73273	0.3566	L	0.46157	1.445	0.80722	D	1	P	0.35456	0.502	B	0.35813	0.211	T	0.74925	-0.3498	10	0.54805	T	0.06	-9.732	9.6674	0.39992	0.0:0.8884:0.0:0.1116	.	134	Q9Y547	HSB11_HUMAN	T	134	ENSP00000194214:A134T;ENSP00000360429:A134T	ENSP00000194214:A134T	A	-	1	0	HSPB11	54159947	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	2.821000	0.48065	2.478000	0.83669	0.655000	0.94253	GCA	HSPB11	-	superfamily_Galactose-bd-like	ENSG00000081870		0.348	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB11	HGNC	protein_coding	OTTHUMT00000023114.1	-	0	58	0	C	NM_016126		54387359	-1	tier1	-	no_errors	ENST00000194214	ensembl	human	known	74_37	missense	43.24	42	32	SNP	0.998	T	T	54387359	C	T	54387359	3	4	177	1	0	0	0	0	1	0	0	0	7446	710	25	3	38	3	HSPB11	1	54387359	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	21559000	54387359	194863262	5	44014											
SSBP3	23648	genome.wustl.edu	37	chr1	54871665	54871665	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgagggcaccgccgagcctTtgcctttggcaaacatggtt	7	9	12	13	3	0	0	0	0	0	0	0	2	0	0	5	3	3	3	5	3	1	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:54871665T>C	ENST00000371320.3	-	1	427	c.17A>G	c.(16-18)aAa>aGa	p.K6R	SSBP3_ENST00000357475.4_Missense_Mutation_p.K6R|SSBP3_ENST00000417664.2_5'Flank|SSBP3_ENST00000371319.3_Missense_Mutation_p.K6R	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	6					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						CGCCGAGCCTTTGCCTTTGGC	0.736																																																	0													4	5	5					1																	54871665		2079	4010	6089	SO:0001583	missense	0				CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"single-stranded DNA-binding protein 3"			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.17A>G	1.37:g.54871665T>C	ENSP00000360371:p.Lys6Arg		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.K6R	ENST00000371320.3	37	c.17	CCDS591.1	1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645914	0.47258	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	2.64	2.64	0.31445	.	0.000000	0.46758	U	0.000271	T	0.45155	0.1328	L	0.38838	1.175	0.35702	D	0.815734	B;B;B	0.18968	0.02;0.004;0.032	B;B;B	0.24006	0.018;0.012;0.05	T	0.52540	-0.8562	9	0.62326	D	0.03	.	8.2855	0.31926	0.0:0.0:0.0:1.0	.	6;6;6	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	R	6	.	ENSP00000350067:K6R	K	-	2	0	SSBP3	54644253	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.586000	0.53950	0.978000	0.38470	0.240000	0.17902	AAA	SSBP3	-	NULL	ENSG00000157216		0.736	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP3	HGNC	protein_coding	OTTHUMT00000022721.1		0	35	0	T	NM_018070		54871665	-1			no_errors	ENST00000371320	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	C	C	54871665	T	C	54871665	3	2	177	1	0	0	0	0	1	0	0	0	15228	1841	64	4	1221	4	SSBP3	1	54871665	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	484306	54871665	194378956	6	44015											
SLC44A5	204962	genome.wustl.edu	37	chr1	75699775	75699775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaaggaccatggcaatcGtcaggccactagaaaaaacc	17	5	8	11	1	1	1	1	0	0	1	2	2	1	2	3	3	2	1	3	3	7	2	rs576032462		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:75699775G>A	ENST00000370855.5	-	12	862	c.749C>T	c.(748-750)aCg>aTg	p.T250M	SLC44A5_ENST00000370859.3_Missense_Mutation_p.T250M|SLC44A5_ENST00000535611.1_Missense_Mutation_p.T120M	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	250					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						CATGGCAATCGTCAGGCCACT	0.378													G|||	1	0.000199681	0	0	5008	,	,		15705	0.001		0	False		,,,				2504	0																0													91	90	91					1																	75699775		2203	4300	6503	SO:0001583	missense	0			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.749C>T	1.37:g.75699775G>A	ENSP00000359892:p.Thr250Met		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.T250M	ENST00000370855.5	37	c.749	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	G	8.967	0.972027	0.18736	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.13778	2.98;2.98;2.56	5.28	-2.62	0.06152	.	1.209340	0.05603	N	0.576767	T	0.07458	0.0188	M	0.68317	2.08	0.21604	N	0.999627	B;P;P;P;P	0.49696	0.004;0.874;0.88;0.927;0.923	B;B;B;P;P	0.47075	0.004;0.335;0.335;0.536;0.536	T	0.18903	-1.0322	10	0.37606	T	0.19	-0.8067	6.2529	0.20856	0.513:0.2322:0.2548:0.0	.	244;289;250;250;289	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	M	250;289;250;120;243	ENSP00000359896:T250M;ENSP00000359892:T250M;ENSP00000443090:T120M	ENSP00000359892:T250M	T	-	2	0	SLC44A5	75472363	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.491000	0.35583	-0.949000	0.03663	-2.970000	0.00081	ACG	SLC44A5	-	NULL	ENSG00000137968		0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	-	0	64	0	G	NM_152697		75699775	-1	tier1	-	no_errors	ENST00000370855	ensembl	human	known	74_37	missense	13.43	58	9	SNP	0.000	A	A	75699775	G	A	75699775	3	1	177	1	0	0	0	0	1	0	0	0	14684	1145	40	1	1573	1	SLC44A5	1	75699775	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	20828110	75699775	173550846	7	44016											
AMPD2	271	genome.wustl.edu	37	chr1	110170831	110170831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggccgtgaacagacgctgCgggaggtctttgagagcatg	9	7	17	8	3	1	3	0	2	1	2	1	5	1	4	1	3	3	2	1	3	1	1	rs373128067		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:110170831C>T	ENST00000256578.3	+	10	1729	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	AMPD2_ENST00000393688.3_Missense_Mutation_p.R338W|AMPD2_ENST00000528454.1_Missense_Mutation_p.R339W|AMPD2_ENST00000358729.4_Missense_Mutation_p.R382W|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.R376W|AMPD2_ENST00000528667.1_Missense_Mutation_p.R457W	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	457					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)		ACAGACGCTGCGGGAGGTCTT	0.602													C|||	1	0.000199681	0	0	5008	,	,		19990	0.001		0	False		,,,				2504	0																0								C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	72	71	71		1369,1126,1012	3.1	1	1		71	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	AMPD2	NM_004037.6,NM_139156.2,NM_203404.1	101,101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	457/880,376/799,338/761	110170831	2,13004	2203	4300	6503	SO:0001583	missense	0			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.1369C>T	1.37:g.110170831C>T	ENSP00000256578:p.Arg457Trp		B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.R457W	ENST00000256578.3	37	c.1369	CCDS805.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.14|18.14	3.558187|3.558187	0.65538|0.65538	0.0|0.0	2.33E-4|2.33E-4	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|D;D;D;D;D;D	.|0.84298	.|-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.04|5.04	3.13|3.13	0.36017|0.36017	.|Adenosine/AMP deaminase (1);	.|0.182497	.|0.45867	.|D	.|0.000340	D|D	0.85483|0.85483	0.5707|0.5707	M|M	0.78916|0.78916	2.43|2.43	0.31269|0.31269	N|N	0.692021|0.692021	.|D;D;D;D	.|0.76494	.|0.966;0.982;0.999;0.982	.|B;P;P;P	.|0.55749	.|0.332;0.559;0.783;0.559	D|D	0.83654|0.83654	0.0157|0.0157	5|10	.|0.87932	.|D	.|0	-35.2044|-35.2044	12.6585|12.6585	0.56801|0.56801	0.4249:0.5751:0.0:0.0|0.4249:0.5751:0.0:0.0	.|.	.|382;338;457;376	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	V|W	427|376;457;457;382;339;338	.|ENSP00000345498:R376W;ENSP00000436541:R457W;ENSP00000256578:R457W;ENSP00000351573:R382W;ENSP00000437164:R339W;ENSP00000377292:R338W	.|ENSP00000256578:R457W	A|R	+|+	2|1	0|2	AMPD2|AMPD2	109972354|109972354	0.987000|0.987000	0.35691|0.35691	0.999000|0.999000	0.59377|0.59377	0.952000|0.952000	0.60782|0.60782	2.191000|2.191000	0.42640|0.42640	0.685000|0.685000	0.31468|0.31468	-0.314000|-0.314000	0.08810|0.08810	GCG|CGG	AMPD2	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000116337		0.602	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPD2	HGNC	protein_coding	OTTHUMT00000390615.1		0	14	0	C			110170831	1			no_errors	ENST00000256578	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.995	T	T	110170831	C	T	110170831	3	4	177	1	0	0	0	0	1	0	0	0	586	759	27	1	1448	1	AMPD2	1	110170831	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	34471056	110170831	139079790	8	44017											
SV2A	9900	genome.wustl.edu	37	chr1	149885042	149885042	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ccccttactccagccaggggCgccccatctgccatccgctc	5	7	8	21	2	1	0	0	0	1	0	4	0	3	0	8	2	3	1	8	2	1	1	rs200889129		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:149885042C>T	ENST00000369146.3	-	2	841	c.351G>A	c.(349-351)gcG>gcA	p.A117A	SV2A_ENST00000369145.1_Silent_p.A117A	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	117					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)	CAGCCAGGGGCGCCCCATCTG	0.637																																																	0													76	85	82					1																	149885042		2203	4300	6503	SO:0001819	synonymous_variant	0			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.351G>A	1.37:g.149885042C>T			D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.A117	ENST00000369146.3	37	c.351	CCDS940.1	1																																																																																			SV2A	-	tigrfam_SV2	ENSG00000159164		0.637	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	HGNC	protein_coding	OTTHUMT00000033754.1	-	0	15	0	C			149885042	-1	tier1	rs200889129	no_errors	ENST00000369146	ensembl	human	known	74_37	silent	50.00	16	16	SNP	0.080	T	T	149885042	C	T	149885042	2	4	177	1	0	0	0	0	0	0	0	1	15464	755	27	1		1	SV2A	1	149885042	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	39714211	149885042	99365579	9	44018											
ADAR	103	genome.wustl.edu	37	chr1	154573584	154573584	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ggtttgactagcgaactgggCatattctaacagcccgctga	10	10	11	10	2	1	2	0	2	1	0	1	3	1	2	1	2	4	3	1	2	4	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:154573584C>G	ENST00000368474.4	-	2	1733	c.1534G>C	c.(1534-1536)Gcc>Ccc	p.A512P	ADAR_ENST00000368471.3_Missense_Mutation_p.A217P|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.A555P	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	512	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GCGAACTGGGCATATTCTAAC	0.522																																																	0													101	103	103					1																	154573584		2203	4300	6503	SO:0001583	missense	0			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.1534G>C	1.37:g.154573584C>G	ENSP00000357459:p.Ala512Pro		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.A555P	ENST00000368474.4	37	c.1663	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852190	0.51270	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	4.77	3.85	0.44370	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.116384	0.64402	D	0.000019	D	0.85115	0.5623	M	0.87381	2.88	0.44995	D	0.998016	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.992;0.999	D	0.85655	0.1285	10	0.72032	D	0.01	-8.7104	4.2616	0.10744	0.3726:0.4688:0.0:0.1587	.	512;512;512	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	P	555;512;217;507	ENSP00000292205:A555P;ENSP00000357459:A512P;ENSP00000357456:A217P;ENSP00000431794:A507P	ENSP00000292205:A555P	A	-	1	0	ADAR	152840208	0.989000	0.36119	0.936000	0.37596	0.381000	0.30169	2.736000	0.47385	1.214000	0.43395	-0.314000	0.08810	GCC	ADAR	-	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	ENSG00000160710		0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	-	0	48	0	C	NM_001111		154573584	-1	tier1	-	no_errors	ENST00000292205	ensembl	human	known	74_37	missense	44.83	32	26	SNP	0.992	G	G	154573584	C	G	154573584	3	3	177	1	0	0	0	0	1	0	0	0	281	710	25	5	2202	5	ADAR	1	154573584	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	4688542	154573584	94677037	10	44019											
GBA	2629	genome.wustl.edu	37	chr1	155207371	155207371	+	Splice_Site	SNP	T	T	C	0	1	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	agcataggcatccaggaaccTggcaagagaaaggtcatgaa	16	5	12	8	0	1	2	1	1	0	1	2	4	2	3	2	4	2	3	2	4	5	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:155207371T>C	ENST00000327247.5	-	8	994		c.e8-2		GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000493842.1_5'Flank|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000428024.3_Splice_Site|GBA_ENST00000368373.3_Splice_Site|GBA_ENST00000427500.3_Splice_Site	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	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)		Velaglucerase alfa(DB06720)	TCCAGGAACCTGGCAAGAGAA	0.542									Gaucher disease type I																																								0													30	25	27					1																	155207371		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.762-2A>G	1.37:g.155207371T>C			A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Splice_Site	SNP	-	e7-2	ENST00000327247.5	37	c.762-2	CCDS1102.1	1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.634723	0.29068	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	.	.	.	3.51	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5466	0.33426	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GBA	153473995	1.000000	0.71417	0.958000	0.39756	0.309000	0.27889	6.825000	0.75293	1.584000	0.49913	0.260000	0.18958	.	GBA	-	-	ENSG00000177628		0.542	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBA	HGNC	protein_coding	OTTHUMT00000087204.1		0	23	0	T	NM_000157	Intron	155207371	-1			no_errors	ENST00000327247	ensembl	human	known	74_37	splice_site	10.53	34	4	SNP	0.995	C	C	155207371	T	C	155207371	5	2	177	1	0	0	0	0	0	0	1	0	6291	1594	55	4	870	4	GBA	1	155207371	Splice_Site	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	633787	155207371	94043250	11	44020											
IFI16	3428	genome.wustl.edu	37	chr1	158985745	158985745	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacaagcagcactgtcaaaActgaaggagcagaggcaact	16	4	10	11	0	1	2	1	1	0	1	1	3	1	3	1	2	5	4	1	2	5	0			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:158985745A>C	ENST00000295809.7	+	3	604	c.349A>C	c.(349-351)Act>Cct	p.T117P	IFI16_ENST00000359709.3_Missense_Mutation_p.T117P|IFI16_ENST00000368132.3_Missense_Mutation_p.T117P|IFI16_ENST00000340979.6_Missense_Mutation_p.T117P|IFI16_ENST00000448393.2_Missense_Mutation_p.T117P|IFI16_ENST00000430894.2_Missense_Mutation_p.T121P|IFI16_ENST00000368131.4_Missense_Mutation_p.T117P			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	117	Lys-rich.				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)					CACTGTCAAAACTGAAGGAGC	0.502																																																	0													76	69	72					1																	158985745		2203	4300	6503	SO:0001583	missense	0			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.349A>C	1.37:g.158985745A>C	ENSP00000295809:p.Thr117Pro		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.T117P	ENST00000295809.7	37	c.349		1	.	.	.	.	.	.	.	.	.	.	.	8.844	0.942951	0.18281	.	.	ENSG00000163565	ENST00000359709;ENST00000426592;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T;T;T;T	0.23552	3.61;1.9;2.18;3.55;3.57;3.56;3.56;3.6	2.17	-4.33	0.03677	.	.	.	.	.	T	0.06325	0.0163	M	0.68952	2.095	0.09310	N	1	B;B;B	0.14805	0.008;0.011;0.004	B;B;B	0.10450	0.005;0.005;0.001	T	0.23940	-1.0174	9	0.37606	T	0.19	.	1.1166	0.01715	0.2008:0.1356:0.1276:0.536	.	121;117;117	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	P	117;117;117;117;117;117;117;121	ENSP00000352740:T117P;ENSP00000406406:T117P;ENSP00000407052:T117P;ENSP00000295809:T117P;ENSP00000342741:T117P;ENSP00000357113:T117P;ENSP00000357114:T117P;ENSP00000394935:T121P	ENSP00000295809:T117P	T	+	1	0	IFI16	157252369	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.245000	0.01192	-2.858000	0.00328	-0.609000	0.04063	ACT	IFI16	-	NULL	ENSG00000163565		0.502	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	-	0	22	0	A	NM_005531		158985745	1	tier1	-	no_errors	ENST00000295809	ensembl	human	known	74_37	missense	41.94	18	13	SNP	0.000	C	C	158985745	A	C	158985745	3	2	177	1	0	0	0	0	1	0	0	0	7538	43	2	4	355	4	IFI16	1	158985745	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	3778374	158985745	90264876	12	44021											
NCSTN	23385	genome.wustl.edu	37	chr1	160326959	160326959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaactgagtcagtggagCtctactgaatactctacatg	11	13	9	8	0	3	3	1	3	2	0	3	4	3	4	0	1	5	1	0	1	5	4	rs200925288		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:160326959C>T	ENST00000294785.5	+	16	2048	c.1923C>T	c.(1921-1923)agC>agT	p.S641S	NCSTN_ENST00000368065.4_Silent_p.S383S|NCSTN_ENST00000535857.1_Silent_p.S503S|NCSTN_ENST00000392212.4_Silent_p.S621S|NCSTN_ENST00000368063.1_Silent_p.S621S	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	641					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|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)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCAGTGGAGCTCTACTGAAT	0.537																																																	0													94	86	89					1																	160326959		2203	4300	6503	SO:0001819	synonymous_variant	0			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1923C>T	1.37:g.160326959C>T			Q5T207|Q5T208|Q86VV5	Silent	SNP	pfam_Nicastrin	p.S641	ENST00000294785.5	37	c.1923	CCDS1203.1	1																																																																																			NCSTN	-	NULL	ENSG00000162736		0.537	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	-	0	29	0	C	NM_015331		160326959	1	tier1	rs200925288	no_errors	ENST00000294785	ensembl	human	known	74_37	silent	10.00	35	4	SNP	0.999	T	T	160326959	C	T	160326959	2	4	177	1	0	0	0	0	0	0	0	1	10280	796	28	3		3	NCSTN	1	160326959	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	1341214	160326959	88923662	13	44022											
NMNAT2	23057	genome.wustl.edu	37	chr1	183253165	183253165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatcaccgtgcccagattgGcattctcatctaaggaggaa	11	9	10	11	1	3	1	2	0	2	1	4	3	3	3	2	3	1	2	2	3	2	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:183253165G>T	ENST00000287713.6	-	7	873	c.539C>A	c.(538-540)gCc>gAc	p.A180D	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Missense_Mutation_p.A175D	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	180					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.A180V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GCCCAGATTGGCATTCTCATC	0.527																																																	1	Substitution - Missense(1)	lung(1)											138	115	123					1																	183253165		2203	4300	6503	SO:0001583	missense	0			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"chromosome 1 open reading frame 15"	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.539C>A	1.37:g.183253165G>T	ENSP00000287713:p.Ala180Asp		O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	pfam_Cyt_trans-like	p.A180D	ENST00000287713.6	37	c.539	CCDS1353.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740323	0.89573	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.97575	-4.44;-4.31	5.71	5.71	0.89125	Cytidylyltransferase (1);	0.844592	0.11057	N	0.604409	D	0.97704	0.9247	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.995;0.997	D	0.95325	0.8424	10	0.19590	T	0.45	-9.0264	19.4529	0.94875	0.0:0.0:1.0:0.0	.	180;180;175	A8K5S5;Q9BZQ4;Q9BZQ4-2	.;NMNA2_HUMAN;.	D	180;175	ENSP00000287713:A180D;ENSP00000294868:A175D	ENSP00000287713:A180D	A	-	2	0	NMNAT2	181519788	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.729000	0.91490	2.687000	0.91594	0.655000	0.94253	GCC	NMNAT2	-	pfam_Cyt_trans-like	ENSG00000157064		0.527	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT2	HGNC	protein_coding	OTTHUMT00000086255.1		0	21	0	G			183253165	-1			no_errors	ENST00000287713	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	183253165	G	T	183253165	3	4	177	1	0	0	0	0	1	0	0	0	10538	1203	42	3	404	3	NMNAT2	1	183253165	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	22926206	183253165	65997456	14	44023											
SLC26A9	115019	genome.wustl.edu	37	chr1	205890901	205890901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacgctggtgccgttagcCggggtctggttgttgttggg	3	12	18	8	3	1	0	0	0	1	0	1	1	1	0	2	5	2	5	2	5	1	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:205890901C>T	ENST00000367135.3	-	17	1961	c.1848G>A	c.(1846-1848)ccG>ccA	p.P616P	SLC26A9_ENST00000340781.4_Silent_p.P616P|SLC26A9_ENST00000367134.2_Silent_p.P616P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	616	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGCCGTTAGCCGGGGTCTGGT	0.647																																																	0													101	81	88					1																	205890901		2201	4299	6500	SO:0001819	synonymous_variant	0			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1848G>A	1.37:g.205890901C>T			A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.P616	ENST00000367135.3	37	c.1848	CCDS30990.1	1																																																																																			SLC26A9	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	ENSG00000174502		0.647	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	-	0	18	0	C	NM_052934		205890901	-1	tier1	-	no_errors	ENST00000340781	ensembl	human	known	74_37	silent	47.62	22	20	SNP	0.000	T	T	205890901	C	T	205890901	2	4	177	1	0	0	0	0	0	0	0	1	14569	639	23	1		1	SLC26A9	1	205890901	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	22637736	205890901	43359720	15	44024											
ANGEL2	90806	genome.wustl.edu	37	chr1	213178473	213178473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagtcaccacacataacaaTagggcagaagctgccatctt	16	7	7	11	0	2	1	1	0	1	1	2	1	2	1	2	1	3	2	2	1	5	3	rs200576994		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:213178473T>C	ENST00000366962.3	-	5	1190	c.1036A>G	c.(1036-1038)Att>Gtt	p.I346V	ANGEL2_ENST00000473303.1_5'Flank|ANGEL2_ENST00000535388.1_Missense_Mutation_p.I177V|ANGEL2_ENST00000540642.1_Missense_Mutation_p.I220V|ANGEL2_ENST00000544555.1_Missense_Mutation_p.I177V|ANGEL2_ENST00000360506.2_Missense_Mutation_p.I177V	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	346										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CACATAACAATAGGGCAGAAG	0.418																																																	0													104	95	98					1																	213178473		2203	4300	6503	SO:0001583	missense	0			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1036A>G	1.37:g.213178473T>C	ENSP00000355929:p.Ile346Val		B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.I346V	ENST00000366962.3	37	c.1036	CCDS1512.1	1	.	.	.	.	.	.	.	.	.	.	T	6.378	0.437836	0.12104	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.61	3.31	0.37934	Endonuclease/exonuclease/phosphatase (2);	0.050712	0.85682	D	0.000000	T	0.51753	0.1693	N	0.05574	-0.02	0.28785	N	0.899629	B;B	0.19073	0.002;0.033	B;B	0.18871	0.008;0.023	T	0.37384	-0.9708	10	0.10636	T	0.68	-16.7255	6.0299	0.19675	0.0:0.2086:0.1275:0.6638	.	220;346	F5H476;Q5VTE6	.;ANGE2_HUMAN	V	346;177;177;220;177	ENSP00000355929:I346V;ENSP00000353696:I177V;ENSP00000443193:I177V;ENSP00000446124:I220V;ENSP00000438141:I177V	ENSP00000353696:I177V	I	-	1	0	ANGEL2	211245096	0.903000	0.30736	0.225000	0.23894	0.955000	0.61496	1.421000	0.34815	0.418000	0.25898	0.528000	0.53228	ATT	ANGEL2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000174606		0.418	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	HGNC	protein_coding	OTTHUMT00000089693.1	-	0	56	0	T	NM_144567		213178473	-1	tier1	rs200576994	no_errors	ENST00000366962	ensembl	human	known	74_37	missense	37.84	46	28	SNP	0.030	C	C	213178473	T	C	213178473	3	2	177	1	0	0	0	0	1	0	0	0	609	1406	49	4	618	4	ANGEL2	1	213178473	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	7287572	213178473	36072148	16	44025											
PGBD5	79605	genome.wustl.edu	37	chr1	230472897	230472897	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgtcaggctggtgatgctGggccccgtgaaaatgatgta	9	9	15	8	2	1	3	1	3	0	0	1	3	1	3	2	3	2	3	2	3	3	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:230472897G>T	ENST00000525115.1	-	4	848	c.825C>A	c.(823-825)ccC>ccA	p.P275P	PGBD5_ENST00000321327.2_Silent_p.P374P|PGBD5_ENST00000391860.1_Silent_p.P229P|PGBD5_ENST00000530424.1_5'Flank			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	275						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)		TGGTGATGCTGGGCCCCGTGA	0.587																																																	0													107	98	101					1																	230472897		2203	4300	6503	SO:0001819	synonymous_variant	0			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.825C>A	1.37:g.230472897G>T			A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	NULL	p.P374	ENST00000525115.1	37	c.1122		1																																																																																			PGBD5	-	NULL	ENSG00000177614		0.587	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	-	0	39	0	G	NM_024554		230472897	-1	tier1	-	no_errors	ENST00000321327	ensembl	human	known	74_37	silent	38.00	31	19	SNP	1.000	T	T	230472897	G	T	230472897	2	4	177	1	0	0	0	0	0	0	0	1	11823	1335	47	3		3	PGBD5	1	230472897	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	17294424	230472897	18777724	17	44026											
TARBP1	6894	genome.wustl.edu	37	chr1	234563510	234563510	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcaattatcttgtacatAatctggaataaaatacaacc	17	14	3	7	0	3	0	1	0	2	0	3	1	3	1	1	1	3	1	1	1	9	7			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:234563510A>G	ENST00000040877.1	-	18	3062	c.3063T>C	c.(3061-3063)atT>atC	p.I1021I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1021					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)			TCTTGTACATAATCTGGAATA	0.318																																																	0													54	54	54					1																	234563510		2202	4300	6502	SO:0001819	synonymous_variant	0				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.3063T>C	1.37:g.234563510A>G			Q9H581	Silent	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.I1021	ENST00000040877.1	37	c.3063	CCDS1601.1	1																																																																																			TARBP1	-	superfamily_ARM-type_fold	ENSG00000059588		0.318	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	-	0	72	0	A	NM_005646		234563510	-1	tier1	-	no_errors	ENST00000040877	ensembl	human	novel	74_37	silent	24.51	77	25	SNP	0.995	G	G	234563510	A	G	234563510	2	3	177	1	0	0	0	0	0	0	0	1	15602	358	13	4		4	TARBP1	1	234563510	Silent	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	4090613	234563510	14687111	18	44027											
RYR2	6262	genome.wustl.edu	37	chr1	237580416	237580416	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttggagactagagacgctaAgagttgcgtaagtagaactt	13	11	12	5	2	0	4	0	0	0	4	0	6	0	4	0	1	2	4	0	1	5	7			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:237580416A>C	ENST00000366574.2	+	11	1158	c.841A>C	c.(841-843)Aga>Cga	p.R281R	RYR2_ENST00000542537.1_Silent_p.R265R|RYR2_ENST00000360064.6_Silent_p.R279R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	281					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)			AGAGACGCTAAGAGTTGCGTA	0.443																																																	0													120	117	118					1																	237580416		2050	4217	6267	SO:0001819	synonymous_variant	0			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.841A>C	1.37:g.237580416A>C			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R279	ENST00000366574.2	37	c.835	CCDS55691.1	1																																																																																			RYR2	-	pfam_MIR_motif,superfamily_MIR_motif,prints_Ryan_recept	ENSG00000198626		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	57	0	A	NM_001035		237580416	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	25.30	61	21	SNP	0.851	C	C	237580416	A	C	237580416	2	2	177	1	0	0	0	0	0	0	0	1	13814	64	3	4		4	RYR2	1	237580416	Silent	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	3016906	237580416	11670205	19	44028											
FMN2	56776	genome.wustl.edu	37	chr1	240256708	240256708	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgcccaatcactccccGtctcagtcccctaatcagag	9	8	6	18	2	3	1	3	0	1	1	7	1	5	1	5	0	1	1	5	0	2	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:240256708G>A	ENST00000319653.9	+	1	1529	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	433					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)			ATCACTCCCCGTCTCAGTCCC	0.672																																																	0													51	59	56					1																	240256708		2201	4298	6499	SO:0001819	synonymous_variant	0			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.1299G>A	1.37:g.240256708G>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P433	ENST00000319653.9	37	c.1299	CCDS31069.2	1																																																																																			FMN2	-	NULL	ENSG00000155816		0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	40	0	G	XM_371352		240256708	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	35.42	30	17	SNP	0.001	A	A	240256708	G	A	240256708	2	1	177	1	0	0	0	0	0	0	0	1	5972	1132	40	1		1	FMN2	1	240256708	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	2676292	240256708	8993913	20	44029											
ZNF238	10472	genome.wustl.edu	37	chr1	244217428	244217428	+	Missense_Mutation	SNP	A	A	G	1	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	gttatctccacatgtatgacAttgtcaaagtctgcaaaaag	14	12	7	8	0	3	1	1	1	2	0	4	1	3	1	1	0	1	3	1	0	5	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:244217428A>G	ENST00000358704.4	+	2	501	c.352A>G	c.(352-354)Att>Gtt	p.I118V		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	109					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)										CATGTATGACATTGTCAAAGT	0.458																																																	0													68	64	65					1																	244217428		2203	4300	6503	SO:0001583	missense	0			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.352A>G	1.37:g.244217428A>G	ENSP00000351539:p.Ile118Val		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I118V	ENST00000358704.4	37	c.352	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.383967	0.61845	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.68624	-0.34	5.29	5.29	0.74685	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	N	0.05554	-0.025	0.58432	D	0.999999	P;B;P	0.47604	0.898;0.388;0.51	D;B;B	0.65443	0.935;0.106;0.303	T	0.70861	-0.4757	10	0.42905	T	0.14	.	15.2248	0.73342	1.0:0.0:0.0:0.0	.	118;109;118	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	V	118	ENSP00000351539:I118V	ENSP00000351539:I118V	I	+	1	0	ZNF238	242284051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.006000	0.58801	0.533000	0.62120	ATT	ZBTB18	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000179456		0.458	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB18	HGNC	protein_coding	OTTHUMT00000096513.2		0	12	0	A	NM_205768		244217428	1			no_errors	ENST00000358704	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	G	G	244217428	A	G	244217428	3	3	177	1	0	0	0	0	1	0	0	0	17838	217	8	4	358	4	ZNF238	1	244217428	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	3960720	244217428	5033193	21	44030											
ITSN2	50618	genome.wustl.edu	37	chr2	24427241	24427241	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggatggtcctggtggtGtagctctgggagcccatgct	4	12	15	10	0	1	0	0	0	1	0	3	2	3	2	3	5	3	3	3	5	1	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:24427241G>T	ENST00000355123.4	-	39	5252	c.4809C>A	c.(4807-4809)taC>taA	p.Y1603*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.Y1576*|AC008073.9_ENST00000429717.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1603	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)					TCCTGGTGGTGTAGCTCTGGG	0.473																																																	0													163	154	157					2																	24427241		2203	4300	6503	SO:0001587	stop_gained	0			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.4809C>A	2.37:g.24427241G>T	ENSP00000347244:p.Tyr1603*		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.Y1603*	ENST00000355123.4	37	c.4809	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	G	46	12.203115	0.99646	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	.	.	.	5.06	1.05	0.20165	.	0.000000	0.34200	U	0.004163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	8.7806	0.34789	0.4057:0.0:0.5943:0.0	.	.	.	.	X	1576;1603;1576	.	ENSP00000347244:Y1603X	Y	-	3	2	ITSN2	24280745	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.727000	0.25999	-0.021000	0.14009	0.655000	0.94253	TAC	ITSN2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000198399		0.473	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	-	0	47	0	G	NM_006277		24427241	-1	tier1	-	no_errors	ENST00000355123	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	24427241	G	T	24427241	4	4	177	1	0	0	0	0	0	1	0	0	7954	1372	48	3	292	3	ITSN2	2	24427241	Nonsense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		24427241	218772132	22	44031											
EHD3	30845	genome.wustl.edu	37	chr2	31467221	31467221	+	Silent	SNP	A	A	G	1	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	ttcattgcggtgatgcagggAgacatggaggggatcatccc	9	9	15	8	1	2	2	2	1	0	1	3	5	3	4	1	5	2	1	1	5	0	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:31467221A>G	ENST00000322054.5	+	2	594	c.309A>G	c.(307-309)ggA>ggG	p.G103G	EHD3_ENST00000541626.1_Silent_p.G103G	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	103	Dynamin-type G.				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)					TGATGCAGGGAGACATGGAGG	0.567																																																	0													106	83	91					2																	31467221		2203	4300	6503	SO:0001819	synonymous_variant	0			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.309A>G	2.37:g.31467221A>G			B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.G103	ENST00000322054.5	37	c.309	CCDS1774.1	2																																																																																			EHD3	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000013016		0.567	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	-	0	27	0	A	NM_014600		31467221	1	tier1	-	no_errors	ENST00000322054	ensembl	human	known	74_37	silent	29.27	29	12	SNP	0.010	G	G	31467221	A	G	31467221	2	3	177	1	0	0	0	0	0	0	0	1	4993	291	11	4		4	EHD3	2	31467221	Silent	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	7039980	31467221	211732152	23	44032											
ACTG2	72	genome.wustl.edu	37	chr2	74143777	74143777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgtgacattgacatccGtaaggacttatatgccaaca	14	10	9	8	1	0	2	0	2	0	0	1	4	1	3	2	1	2	1	2	1	5	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:74143777G>A	ENST00000409624.1	+	9	1515	c.872G>A	c.(871-873)cGt>cAt	p.R291H	ACTG2_ENST00000409731.3_Missense_Mutation_p.R248H|ACTG2_ENST00000345517.3_Missense_Mutation_p.R291H			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	291					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						ATTGACATCCGTAAGGACTTA	0.517																																																	0													135	102	113					2																	74143777		2203	4300	6503	SO:0001583	missense	0				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.872G>A	2.37:g.74143777G>A	ENSP00000386857:p.Arg291His		B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R291H	ENST00000409624.1	37	c.872	CCDS1930.1	2	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615313	0.66672	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.95885	-3.84;-3.84;-3.84	4.1	4.1	0.47936	.	0.000000	0.64402	D	0.000001	D	0.97698	0.9245	M	0.90650	3.135	0.52501	D	0.999953	P;P	0.46220	0.672;0.874	B;P	0.59288	0.409;0.855	D	0.98766	1.0726	10	0.87932	D	0	.	15.5985	0.76606	0.0:0.0:1.0:0.0	.	248;291	E9PG30;P63267	.;ACTH_HUMAN	H	248;291;291	ENSP00000386929:R248H;ENSP00000295137:R291H;ENSP00000386857:R291H	ENSP00000295137:R291H	R	+	2	0	ACTG2	73997285	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.463000	0.97652	2.297000	0.77311	0.467000	0.42956	CGT	ACTG2	-	pfam_Actin-related,smart_Actin-related	ENSG00000163017		0.517	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG2	HGNC	protein_coding	OTTHUMT00000328086.1		0	48	0	G	NM_001615		74143777	1			no_errors	ENST00000345517	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	74143777	G	A	74143777	3	1	177	1	0	0	0	0	1	0	0	0	197	1145	40	1	898	1	ACTG2	2	74143777	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	42676556	74143777	169055596	24	44033											
LRRTM4	80059	genome.wustl.edu	37	chr2	77746912	77746912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagctctctgagcacccGtgagcataacaagcagcagt	12	6	11	12	1	1	2	0	2	1	0	2	2	1	2	1	1	6	6	1	1	3	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:77746912G>A	ENST00000409093.1	-	3	419	c.83C>T	c.(82-84)aCg>aTg	p.T28M	LRRTM4_ENST00000409282.1_Missense_Mutation_p.T29M|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T28M|LRRTM4_ENST00000409088.3_Missense_Mutation_p.T28M|LRRTM4_ENST00000409911.1_Missense_Mutation_p.T29M			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	28					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.T28M(2)|p.T28K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGAGCACCCGTGAGCATAAC	0.443																																																	4	Substitution - Missense(4)	lung(2)|endometrium(2)											69	68	68					2																	77746912		2028	4198	6226	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.83C>T	2.37:g.77746912G>A	ENSP00000386357:p.Thr28Met		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T29M	ENST00000409093.1	37	c.86	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027793	0.35797	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282;ENST00000456154	T;T;T;T;T	0.53206	0.63;0.65;0.65;0.75;0.76	5.96	5.96	0.96718	.	0.435314	0.26146	N	0.026067	T	0.28001	0.0690	N	0.04508	-0.205	0.23314	N	0.997925	P;P;D	0.54207	0.834;0.897;0.965	B;B;B	0.42319	0.213;0.383;0.277	T	0.26883	-1.0090	10	0.66056	D	0.02	.	12.3072	0.54908	0.0774:0.0:0.9226:0.0	.	29;28;28	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	M	29;28;28;28;29;17	ENSP00000387228:T29M;ENSP00000387297:T28M;ENSP00000386357:T28M;ENSP00000386236:T28M;ENSP00000386286:T29M	ENSP00000386236:T28M	T	-	2	0	LRRTM4	77600420	0.017000	0.18338	0.998000	0.56505	0.995000	0.86356	1.961000	0.40432	2.826000	0.97356	0.655000	0.94253	ACG	LRRTM4	-	NULL	ENSG00000176204		0.443	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0	34	0	G	NM_024993		77746912	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	41.86	25	18	SNP	0.999	A	A	77746912	G	A	77746912	3	1	177	1	0	0	0	0	1	0	0	0	9077	1145	40	1	1703	1	LRRTM4	2	77746912	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	3603135	77746912	165452461	25	44034											
WDR33	55339	genome.wustl.edu	37	chr2	128476957	128476957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgctgtccctgaggtccgGggggtccttgcatgccaccc	3	10	13	15	1	1	1	0	1	1	0	4	1	4	1	5	4	3	2	5	4	0	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:128476957G>T	ENST00000322313.4	-	16	2800	c.2642C>A	c.(2641-2643)cCc>cAc	p.P881H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	881					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)		CTGAGGTCCGGGGGGTCCTTG	0.627																																																	0													77	84	81					2																	128476957		2203	4300	6503	SO:0001583	missense	0				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.2642C>A	2.37:g.128476957G>T	ENSP00000325377:p.Pro881His		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P881H	ENST00000322313.4	37	c.2642	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721852	0.68959	.	.	ENSG00000136709	ENST00000322313	D	0.90444	-2.67	5.25	5.25	0.73442	.	0.202391	0.42964	D	0.000635	D	0.82879	0.5133	N	0.19112	0.55	0.80722	D	1	P	0.40000	0.698	B	0.30179	0.112	D	0.85856	0.1407	10	0.72032	D	0.01	-7.2121	17.9754	0.89126	0.0:0.0:1.0:0.0	.	881	Q9C0J8	WDR33_HUMAN	H	881	ENSP00000325377:P881H	ENSP00000325377:P881H	P	-	2	0	WDR33	128193427	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.554000	0.67294	2.596000	0.87737	0.563000	0.77884	CCC	WDR33	-	NULL	ENSG00000136709		0.627	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2		0	48	0	G	NM_018383		128476957	-1			no_errors	ENST00000322313	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	128476957	G	T	128476957	3	4	177	1	0	0	0	0	1	0	0	0	17336	1232	43	3	1396	3	WDR33	2	128476957	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	50730045	128476957	114722416	26	44035											
THSD7B	80731	genome.wustl.edu	37	chr2	138414722	138414722	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcgttcagatggcgttaAtgtcacaggtattcctgcct	8	12	10	11	2	2	1	2	0	0	1	3	1	3	1	3	2	2	3	3	2	2	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:138414722A>C	ENST00000409968.1	+	24	4545	c.4367A>C	c.(4366-4368)aAt>aCt	p.N1456T	THSD7B_ENST00000543459.1_Missense_Mutation_p.M291L|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1428T|THSD7B_ENST00000272643.3_Missense_Mutation_p.N1459T			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1458						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATGGCGTTAATGTCACAGGT	0.403																																																	0													105	101	102					2																	138414722		1947	4146	6093	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4367A>C	2.37:g.138414722A>C	ENSP00000387145:p.Asn1456Thr			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.N1459T	ENST00000409968.1	37	c.4376		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.54|14.54	2.564448|2.564448	0.45694|0.45694	.|.	.|.	ENSG00000144229|ENSG00000144229	ENST00000543459|ENST00000409968;ENST00000272643;ENST00000413152	T|T;T;T	0.20463|0.25250	2.07|2.33;2.2;1.81	6.13|6.13	6.13|6.13	0.99165|0.99165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50171|0.50171	0.1600|0.1600	M|M	0.72118|0.72118	2.19|2.19	0.31210|0.31210	N|N	0.698715|0.698715	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.53648|0.53648	-0.8409|-0.8409	7|10	0.10636|0.23302	T|T	0.68|0.38	.|.	16.8061|16.8061	0.85666|0.85666	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1428	.|C9JKN6	.|.	L|T	291|1456;1459;1428	ENSP00000443370:M291L|ENSP00000387145:N1456T;ENSP00000272643:N1459T;ENSP00000413841:N1428T	ENSP00000443370:M291L|ENSP00000272643:N1459T	M|N	+|+	1|2	0|0	THSD7B|THSD7B	138131192|138131192	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	8.958000|8.958000	0.93099|0.93099	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	ATG|AAT	THSD7B	-	NULL	ENSG00000144229		0.403	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0	48	0	A	XM_046570.9		138414722	1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	80.70	11	46	SNP	1.000	C	C	138414722	A	C	138414722	3	2	177	1	0	0	0	0	1	0	0	0	15927	101	4	4	4369	4	THSD7B	2	138414722	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	9937765	138414722	104784651	27	44036											
LRP1B	53353	genome.wustl.edu	37	chr2	141607887	141607888	+	Frame_Shift_Ins	INS	-	-	T																															cgtcttgcataaagaagaaaINSttttttcatttctaaaaaag																										TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:141607887_141607888insT	ENST00000389484.3	-	29	5693_5694	c.4722_4723insA	c.(4720-4725)aaatttfs	p.F1575fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1575					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)		TAAAGAAGAAATTTTTTCATTT	0.302										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0																																										SO:0001589	frameshift_variant	0			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.4723dupA	2.37:g.141607893_141607893dupT	ENSP00000374135:p.Phe1575fs		Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.F1574fs	ENST00000389484.3	37	c.4723_4722	CCDS2182.1	2																																																																																			LRP1B	-	NULL	ENSG00000168702		0.302	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2		0	39	0	-	NM_018557		141607888	-1	tier1		no_errors	ENST00000389484	ensembl	human	known	74_37	frame_shift_ins	22.50	31	9	INS	1.000:1.000	T	T	141607888	-	T	141607887	7	5	177	1	0	1	1	0	0	0	0	0	8990	101	4	0	9328	0	LRP1B	2	141607887	Frame_Shift_Ins	INS	-	TCGA-X8-AAAR-01A-11D-A403-09	3193165	141607887	101591486	28	44037											
ACVR1	90	genome.wustl.edu	37	chr2	158634691	158634691	+	Silent	SNP	G	G	T	0	0	1	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	gtgatgagcccttcgatagtGccatactccacgtctcgggg	7	10	12	12	3	1	2	0	2	1	0	4	3	2	2	3	2	3	0	3	2	2	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:158634691G>T	ENST00000263640.3	-	5	924	c.495C>A	c.(493-495)ggC>ggA	p.G165G	ACVR1_ENST00000487456.1_5'UTR|ACVR1_ENST00000434821.1_Silent_p.G165G|ACVR1_ENST00000410057.2_Silent_p.G165G|ACVR1_ENST00000409283.2_Silent_p.G165G	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	165					activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|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 phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|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)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTTCGATAGTGCCATACTCCA	0.502																																																	0													148	129	135					2																	158634691		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.495C>A	2.37:g.158634691G>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.G165	ENST00000263640.3	37	c.495	CCDS2206.1	2																																																																																			ACVR1	-	NULL	ENSG00000115170		0.502	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1	HGNC	protein_coding	OTTHUMT00000254927.1		0	49	0	G	NM_001105		158634691	-1			no_errors	ENST00000263640	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.664	T	T	158634691	G	T	158634691	2	4	177	1	0	0	0	0	0	0	0	1	220	1306	46	3		3	ACVR1	2	158634691	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	17026804	158634691	84564682	29	44038											
LY75	4065	genome.wustl.edu	37	chr2	160667040	160667040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaaattttaactcaccatGttttgaacacaattttttgg	14	16	4	7	0	1	1	1	1	0	0	1	1	1	1	1	1	3	1	1	1	5	7			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:160667040G>A	ENST00000263636.4	-	32	4723	c.4696C>T	c.(4696-4698)Cat>Tat	p.H1566Y	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.H1566Y|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.H1566Y|LY75_ENST00000553424.1_Missense_Mutation_p.H1566Y|LY75_ENST00000554112.1_Missense_Mutation_p.H1566Y	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1566	C-type lectin 10. {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)		aaCTCACCATGTTTTGAACAC	0.318																																																	0													131	139	137					2																	160667040		2203	4300	6503	SO:0001583	missense	0			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.4696C>T	2.37:g.160667040G>A	ENSP00000263636:p.His1566Tyr		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.H1566Y	ENST00000263636.4	37	c.4696	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	G	2.942	-0.218581	0.06101	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	4.91	2.97	0.34412	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.317954	0.17365	U	0.176894	T	0.04227	0.0117	N	0.20845	0.615	0.22968	N	0.998491	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.44097	-0.9350	10	0.02654	T	1	.	7.5637	0.27866	0.0859:0.0:0.7513:0.1628	.	1566;1566;1566	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	Y	1566	ENSP00000451511:H1566Y;ENSP00000451446:H1566Y;ENSP00000263636:H1566Y;ENSP00000423463:H1566Y;ENSP00000421035:H1566Y	ENSP00000423463:H1566Y	H	-	1	0	LY75;LY75-CD302	160375286	1.000000	0.71417	0.861000	0.33841	0.076000	0.17211	2.310000	0.43708	1.209000	0.43321	-0.339000	0.08088	CAT	LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000054219		0.318	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	-	0	74	0	G			160667040	-1	tier1	-	no_errors	ENST00000554112	ensembl	human	known	74_37	missense	67.47	27	56	SNP	0.986	A	A	160667040	G	A	160667040	3	1	177	1	0	0	0	0	1	0	0	0	9135	1377	48	3	488	3	LY75	2	160667040	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	2032349	160667040	82532333	30	44039											
SCN3A	6328	genome.wustl.edu	37	chr2	165997297	165997297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatcctggatgacatactgGcctgactaacgttactgttg	9	12	9	11	1	0	2	0	2	0	0	1	3	1	3	3	2	3	2	3	2	3	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:165997297G>T	ENST00000360093.3	-	13	2374	c.1883C>A	c.(1882-1884)gCc>gAc	p.A628D	SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Missense_Mutation_p.A628D	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	628					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)	TGACATACTGGCCTGACTAAC	0.517																																																	0													238	176	197					2																	165997297		2203	4300	6503	SO:0001583	missense	0			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.1883C>A	2.37:g.165997297G>T	ENSP00000353206:p.Ala628Asp		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.A628D	ENST00000360093.3	37	c.1883		2	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132281	0.37630	.	.	ENSG00000153253	ENST00000360093;ENST00000283254	D;D	0.91180	-2.8;-2.8	6.07	5.19	0.71726	.	1.080830	0.07123	N	0.844201	D	0.93996	0.8077	M	0.80028	2.48	0.80722	D	1	P	0.45715	0.865	P	0.48270	0.572	D	0.88551	0.3116	10	0.51188	T	0.08	.	16.7686	0.85531	0.0:0.0:0.8698:0.1302	.	628	Q9NY46-3	.	D	628	ENSP00000353206:A628D;ENSP00000283254:A628D	ENSP00000283254:A628D	A	-	2	0	SCN3A	165705543	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	2.423000	0.44705	1.559000	0.49555	-0.181000	0.13052	GCC	SCN3A	-	pfam_DUF3451	ENSG00000153253		0.517	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding			0	34	0	G	NM_006922		165997297	-1			no_errors	ENST00000283254	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	165997297	G	T	165997297	3	4	177	1	0	0	0	0	1	0	0	0	13963	1203	42	3	4183	3	SCN3A	2	165997297	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	5330257	165997297	77202076	31	44040											
SCN7A	6332	genome.wustl.edu	37	chr2	167289201	167289201	+	Missense_Mutation	SNP	T	T	C	0	1	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	tttttgcttcattattctctTcagctgttacatccttgcat	6	21	4	10	0	3	0	2	0	1	0	5	0	4	0	1	0	4	4	1	0	2	8			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:167289201T>C	ENST00000409855.1	-	15	2345	c.2219A>G	c.(2218-2220)gAa>gGa	p.E740G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	740					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ATTATTCTCTTCAGCTGTTAC	0.338																																																	0													44	41	42					2																	167289201		1854	4107	5961	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2219A>G	2.37:g.167289201T>C	ENSP00000386796:p.Glu740Gly			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.E740G	ENST00000409855.1	37	c.2219	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	T	11.75	1.730393	0.30684	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97114	-4.21;-4.25	6.17	3.78	0.43462	.	0.193185	0.36167	N	0.002748	D	0.94414	0.8203	M	0.62154	1.92	0.32306	N	0.564373	P	0.35077	0.483	B	0.30943	0.122	D	0.93257	0.6640	10	0.72032	D	0.01	.	7.5644	0.27870	0.0:0.0736:0.1425:0.7839	.	740	Q01118	SCN7A_HUMAN	G	740	ENSP00000386796:E740G;ENSP00000413699:E740G	ENSP00000259060:E740G	E	-	2	0	SCN7A	166997447	1.000000	0.71417	0.349000	0.25694	0.215000	0.24574	4.274000	0.58921	0.548000	0.28955	0.533000	0.62120	GAA	SCN7A	-	NULL	ENSG00000136546		0.338	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0	46	0	T			167289201	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	missense	67.16	22	45	SNP	0.997	C	C	167289201	T	C	167289201	3	2	177	1	0	0	0	0	1	0	0	0	13968	1783	62	4	2873	4	SCN7A	2	167289201	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	1291904	167289201	75910172	32	44041											
TTN	7273	genome.wustl.edu	37	chr2	179634517	179634517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ctgatggagttttccctgcaCaactatcttgaacttttcac	9	15	6	11	0	2	2	1	2	1	0	3	3	3	3	1	1	3	2	1	1	3	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:179634517C>A	ENST00000591111.1	-	37	9015	c.8791G>T	c.(8791-8793)Gtg>Ttg	p.V2931L	TTN_ENST00000359218.5_Missense_Mutation_p.V2885L|TTN_ENST00000589042.1_Missense_Mutation_p.V2931L|TTN_ENST00000360870.5_Missense_Mutation_p.V2931L|TTN_ENST00000342175.6_Missense_Mutation_p.V2885L|TTN_ENST00000460472.2_Missense_Mutation_p.V2885L|TTN_ENST00000342992.6_Missense_Mutation_p.V2931L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13261	Ig-like 16.				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)			TTTCCCTGCACAACTATCTTG	0.468																																																	0													213	207	209					2																	179634517		2203	4300	6503	SO:0001583	missense	0			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.8791G>T	2.37:g.179634517C>A	ENSP00000465570:p.Val2931Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V2931L	ENST00000591111.1	37	c.8791		2	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764517	0.49574	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76751	0.4031	L	0.53671	1.685	0.34225	D	0.675873	D;D;D;D;D	0.61697	0.962;0.962;0.962;0.981;0.99	P;P;P;P;P	0.56398	0.493;0.493;0.493;0.644;0.797	T	0.82082	-0.0633	9	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	2885;2885;2885;2931;2931	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	2931;2885;2885;2885;2885;2931	ENSP00000343764:V2931L;ENSP00000434586:V2885L;ENSP00000340554:V2885L;ENSP00000352154:V2885L;ENSP00000354117:V2931L	ENSP00000340554:V2885L	V	-	1	0	TTN	179342762	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	4.914000	0.63348	2.814000	0.96858	0.563000	0.77884	GTG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	23	0	C	NM_133378		179634517	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	72.73	12	32	SNP	1.000	A	A	179634517	C	A	179634517	3	1	177	1	0	0	0	0	1	0	0	0	16784	478	17	3	102501	3	TTN	2	179634517	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	12345316	179634517	63564856	33	44042											
TTN	7273	genome.wustl.edu	37	chr2	179639844	179639844	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttgacaaatggttctgaAgtttcacattcaaaggttgc	12	14	8	7	0	3	2	2	2	1	0	3	2	3	2	0	2	1	3	0	2	3	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:179639844A>C	ENST00000591111.1	-	29	6818	c.6594T>G	c.(6592-6594)acT>acG	p.T2198T	TTN_ENST00000359218.5_Silent_p.T2152T|TTN_ENST00000589042.1_Silent_p.T2198T|TTN_ENST00000360870.5_Silent_p.T2198T|TTN_ENST00000342175.6_Silent_p.T2152T|TTN_ENST00000460472.2_Silent_p.T2152T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Silent_p.T2198T|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12524	Ig-like 11.				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)			ATGGTTCTGAAGTTTCACATT	0.383																																																	0													135	128	130					2																	179639844		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6594T>G	2.37:g.179639844A>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T2198	ENST00000591111.1	37	c.6594		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	46	0	A	NM_133378		179639844	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	8.47	54	5	SNP	0.994	C	C	179639844	A	C	179639844	2	2	177	1	0	0	0	0	0	0	0	1	16784	59	3	4		4	TTN	2	179639844	Silent	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	5327	179639844	63559529	34	44043											
PDE1A	5136	genome.wustl.edu	37	chr2	183387015	183387015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	atactcacattcctttcaggCgctgccacattttttcagtc	8	15	5	13	1	3	0	3	0	0	0	5	0	4	0	2	1	2	1	2	1	1	6	rs137961386	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:183387015C>T	ENST00000410103.1	-	2	172	c.89G>A	c.(88-90)cGc>cAc	p.R30H	PDE1A_ENST00000456212.1_Missense_Mutation_p.R30H|PDE1A_ENST00000358139.2_Missense_Mutation_p.R30H|PDE1A_ENST00000435564.1_Missense_Mutation_p.R30H|PDE1A_ENST00000331935.6_Missense_Mutation_p.R30H|PDE1A_ENST00000536095.1_5'UTR	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	30	Calmodulin-binding. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TCCTTTCAGGCGCTGCCACAT	0.418																																																	0								C	HIS/ARG,HIS/ARG	2,4402	4.2+/-10.8	0,2,2200	130	130	130		89,89	4.7	1	2	dbSNP_134	130	18,8582	12.6+/-44.7	0,18,4282	no	missense,missense	PDE1A	NM_001003683.1,NM_005019.3	29,29	0,20,6482	TT,TC,CC		0.2093,0.0454,0.1538	probably-damaging,probably-damaging	30/536,30/546	183387015	20,12984	2202	4300	6502	SO:0001583	missense	0				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.89G>A	2.37:g.183387015C>T	ENSP00000387037:p.Arg30His		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.R30H	ENST00000410103.1	37	c.89	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855001	0.71719	4.54E-4	0.002093	ENSG00000115252	ENST00000435564;ENST00000331935;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T	0.72615	-0.67;-0.67;-0.66;-0.66;-0.67	5.73	4.67	0.58626	.	0.501527	0.21396	N	0.075229	T	0.75722	0.3888	L	0.48642	1.525	0.40562	D	0.981228	D;D	0.57571	0.966;0.98	P;P	0.56960	0.65;0.81	T	0.78140	-0.2320	10	0.66056	D	0.02	.	14.7116	0.69238	0.0:0.9182:0.0:0.0818	.	30;30	P54750;P54750-4	PDE1A_HUMAN;.	H	30	ENSP00000410309:R30H;ENSP00000331574:R30H;ENSP00000387037:R30H;ENSP00000350858:R30H;ENSP00000408874:R30H	ENSP00000331574:R30H	R	-	2	0	PDE1A	183095260	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.753000	0.55180	2.714000	0.92807	0.591000	0.81541	CGC	PDE1A	-	superfamily_GRIP	ENSG00000115252		0.418	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	-	0	65	0	C			183387015	-1	tier1	rs137961386	no_errors	ENST00000456212	ensembl	human	known	74_37	missense	13.22	105	16	SNP	1.000	T	T	183387015	C	T	183387015	3	4	177	1	0	0	0	0	1	0	0	0	11672	768	27	1	1652	1	PDE1A	2	183387015	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	3747171	183387015	59812358	35	44044											
GALNTL2	117248	genome.wustl.edu	37	chr3	16216813	16216813	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agcccaagccagcaagcacaGccctgaagccaggtaccgcc	12	2	10	17	1	0	1	0	1	0	0	0	1	0	1	6	1	7	3	6	1	4	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:16216813G>T	ENST00000339732.5	+	1	658	c.155G>T	c.(154-156)aGc>aTc	p.S52I	GALNT15_ENST00000437509.1_Missense_Mutation_p.S52I	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	52					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)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGCAAGCACAGCCCTGAAGCC	0.607																																																	0													137	121	126					3																	16216813		2203	4300	6503	SO:0001583	missense	0			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.155G>T	3.37:g.16216813G>T	ENSP00000344260:p.Ser52Ile		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S52I	ENST00000339732.5	37	c.155	CCDS33711.1	3	.	.	.	.	.	.	.	.	.	.	G	3.659	-0.069982	0.07228	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.58358	0.57;0.34	4.29	-1.36	0.09085	.	4.299440	0.00987	N	0.003479	T	0.31857	0.0810	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.11690	-1.0577	10	0.40728	T	0.16	.	0.4525	0.00503	0.3746:0.1348:0.2348:0.2557	.	52	Q8N3T1	GLTL2_HUMAN	I	52	ENSP00000344260:S52I;ENSP00000395873:S52I	ENSP00000344260:S52I	S	+	2	0	GALNTL2	16191817	0.005000	0.15991	0.002000	0.10522	0.193000	0.23685	0.089000	0.15002	-0.158000	0.11040	0.442000	0.29010	AGC	GALNT15	-	NULL	ENSG00000131386		0.607	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT15	HGNC	protein_coding	OTTHUMT00000346483.2		0	46	0	G	NM_054110		16216813	1			no_errors	ENST00000339732	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.016	T	T	16216813	G	T	16216813	3	4	177	1	0	0	0	0	1	0	0	0	6247	971	34	3	157	3	GALNTL2	3	16216813	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		16216813	181805617	36	44045											
TRANK1	9881	genome.wustl.edu	37	chr3	36900336	36900336	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgaagtcctcatgtttcagGcacgtgacaactggcctctc	8	11	9	13	2	3	1	2	1	1	0	6	2	4	1	2	2	1	2	2	2	2	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:36900336G>A	ENST00000429976.2	-	11	1660	c.1413C>T	c.(1411-1413)tgC>tgT	p.C471C	TRANK1_ENST00000428977.2_5'UTR|TRANK1_ENST00000301807.6_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	471							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						CATGTTTCAGGCACGTGACAA	0.567																																																	0													87	79	82					3																	36900336		692	1591	2283	SO:0001819	synonymous_variant	0			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.1413C>T	3.37:g.36900336G>A			Q8N8K0	Silent	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.C471	ENST00000429976.2	37	c.1413	CCDS46789.2	3																																																																																			TRANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000168016		0.567	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0	53	0	G	NM_014831		36900336	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.971	A	A	36900336	G	A	36900336	2	1	177	1	0	0	0	0	0	0	0	1	16502	1195	42	3		3	TRANK1	3	36900336	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	20683523	36900336	161122094	37	44046											
DLEC1	9940	genome.wustl.edu	37	chr3	38158135	38158135	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatcggaattcagccatGaaactgactcatcagtgagc	12	10	9	10	1	4	3	4	3	0	0	5	4	4	4	1	1	3	1	1	1	2	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:38158135G>T	ENST00000308059.6	+	28	4069	c.4048G>T	c.(4048-4050)Gaa>Taa	p.E1350*	DLEC1_ENST00000452631.2_Nonsense_Mutation_p.E1353*|DLEC1_ENST00000346219.3_Nonsense_Mutation_p.E1350*					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)		ATTCAGCCATGAAACTGACTC	0.627																																																	0													57	57	57					3																	38158135		1949	4133	6082	SO:0001587	stop_gained	0			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.4048G>T	3.37:g.38158135G>T	ENSP00000308597:p.Glu1350*			Nonsense_Mutation	SNP	superfamily_PapD-like	p.E1350*	ENST00000308059.6	37	c.4048	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	G	40	8.452506	0.98817	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	.	.	.	4.65	2.82	0.32997	.	1.823620	0.02868	N	0.131149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	0.0041	6.9323	0.24447	0.2229:0.0:0.7771:0.0	.	.	.	.	X	1350;1350;1353	.	ENSP00000308597:E1350X	E	+	1	0	DLEC1	38133139	0.001000	0.12720	0.002000	0.10522	0.073000	0.16967	0.789000	0.26886	0.483000	0.27608	0.313000	0.20887	GAA	DLEC1	-	NULL	ENSG00000008226		0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	-	0	87	0	G	NM_007337		38158135	1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	0.002	T	T	38158135	G	T	38158135	4	4	177	1	0	0	0	0	0	1	0	0	4566	1291	45	3	4158	3	DLEC1	3	38158135	Nonsense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	1257799	38158135	159864295	38	44047											
PBRM1	55193	genome.wustl.edu	37	chr3	52651338	52651338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcttcatgtcttctatCattccctcttcaccagcata	9	15	3	14	0	7	0	4	0	3	0	8	0	8	0	2	0	2	2	2	0	2	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:52651338C>A	ENST00000296302.7	-	14	1759	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	PBRM1_ENST00000356770.4_Missense_Mutation_p.M554I|PBRM1_ENST00000409057.1_Missense_Mutation_p.M586I|PBRM1_ENST00000409767.1_Missense_Mutation_p.M601I|PBRM1_ENST00000394830.3_Missense_Mutation_p.M586I|PBRM1_ENST00000409114.3_Missense_Mutation_p.M601I|PBRM1_ENST00000337303.4_Missense_Mutation_p.M586I|PBRM1_ENST00000410007.1_Missense_Mutation_p.M586I			Q86U86	PB1_HUMAN	polybromo 1	586	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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.M586I(2)|p.M554I(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)		TGTCTTCTATCATTCCCTCTT	0.448			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	breast(3)											116	106	109					3																	52651338		2203	4300	6503	SO:0001583	missense	0			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.1758G>T	3.37:g.52651338C>A	ENSP00000296302:p.Met586Ile		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.M586I	ENST00000296302.7	37	c.1758		3	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211603	0.58452	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.84	5.84	0.93424	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	L	0.45228	1.405	0.58432	D	0.999998	B;B;P;B;B;B;B;B;P	0.44986	0.184;0.288;0.518;0.093;0.031;0.288;0.108;0.028;0.847	B;B;P;B;B;B;B;B;D	0.67103	0.129;0.323;0.768;0.095;0.026;0.238;0.086;0.038;0.949	T	0.15752	-1.0426	10	0.34782	T	0.22	-18.2278	20.139	0.98050	0.0:1.0:0.0:0.0	.	586;586;586;586;601;601;586;554;586	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	I	554;586;586;586;586;586;601;601;586;545	ENSP00000349213:M554I;ENSP00000378307:M586I;ENSP00000296302:M586I;ENSP00000338302:M586I;ENSP00000386593:M586I;ENSP00000386529:M586I;ENSP00000386643:M601I;ENSP00000386601:M601I;ENSP00000387775:M586I;ENSP00000397662:M545I	ENSP00000296302:M586I	M	-	3	0	PBRM1	52626378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.838000	0.62803	2.764000	0.94973	0.655000	0.94253	ATG	PBRM1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000163939		0.448	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	-	0	46	0	C	NM_018165		52651338	-1	tier1	-	no_errors	ENST00000296302	ensembl	human	known	74_37	missense	47.50	21	19	SNP	1.000	A	A	52651338	C	A	52651338	3	1	177	1	0	0	0	0	1	0	0	0	11530	826	29	3	3210	3	PBRM1	3	52651338	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	14493203	52651338	145371092	39	44048											
CACNA1D	776	genome.wustl.edu	37	chr3	53804502	53804502	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cctttttccgtcttttccgaGtgatgcgattggtgaagctt	5	17	10	9	3	1	2	0	2	1	0	3	4	3	2	3	1	2	1	3	1	1	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:53804502G>T	ENST00000350061.5	+	32	4478	c.3967G>T	c.(3967-3969)Gtg>Ttg	p.V1323L	CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1308L|CACNA1D_ENST00000288139.4_Missense_Mutation_p.V1343L|CACNA1D_ENST00000540742.1_Missense_Mutation_p.V215L	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1323					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)	TCTTTTCCGAGTGATGCGATT	0.468																																																	0													114	113	113					3																	53804502		2203	4300	6503	SO:0001583	missense	0			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.3967G>T	3.37:g.53804502G>T	ENSP00000288133:p.Val1323Leu		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.V1343L	ENST00000350061.5	37	c.4027	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006377	0.93287	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02	5.66	5.66	0.87406	Ion transport (1);	0.064970	0.64402	D	0.000011	D	0.98686	0.9559	L	0.58969	1.84	0.80722	D	1	D;B;D;B;D	0.89917	1.0;0.191;0.999;0.306;0.999	D;B;D;P;D	0.91635	0.999;0.203;0.976;0.486;0.995	D	0.99897	1.1149	10	0.87932	D	0	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	1308;215;1016;1323;1343	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	L	1323;1343;1308;1016;215	ENSP00000288133:V1323L;ENSP00000288139:V1343L;ENSP00000409174:V1308L;ENSP00000418014:V1016L;ENSP00000438229:V215L	ENSP00000288139:V1343L	V	+	1	0	CACNA1D	53779542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.666000	0.90696	0.655000	0.94253	GTG	CACNA1D	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000157388		0.468	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	-	0	38	0	G	NM_000720		53804502	1	tier1	-	no_errors	ENST00000288139	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	53804502	G	T	53804502	3	4	177	1	0	0	0	0	1	0	0	0	2548	1029	36	3	4265	3	CACNA1D	3	53804502	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	1153164	53804502	144217928	40	44049											
DNAH12	201625	genome.wustl.edu	37	chr3	57391564	57391564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtgtgtttgttcgccacgGcgtctctttcaatgagtaaa	8	15	10	8	3	2	1	1	1	1	0	4	1	2	1	1	1	0	3	1	1	4	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:57391564G>A	ENST00000351747.2	-	41	6515	c.6335C>T	c.(6334-6336)gCc>gTc	p.A2112V		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2112					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						GTTCGCCACGGCGTCTCTTTC	0.443																																																	0													119	103	108					3																	57391564		692	1591	2283	SO:0001583	missense	0			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.6335C>T	3.37:g.57391564G>A	ENSP00000295937:p.Ala2112Val		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2112V	ENST00000351747.2	37	c.6335		3	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284222	0.40394	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.30448	1.53;1.53	5.56	5.56	0.83823	.	.	.	.	.	T	0.29158	0.0725	N	0.16307	0.4	0.80722	D	1	B	0.31655	0.334	B	0.40444	0.329	T	0.07966	-1.0745	9	0.32370	T	0.25	.	19.5215	0.95187	0.0:0.0:1.0:0.0	.	2112	Q6ZR08	DYH12_HUMAN	V	2112;2131	ENSP00000295937:A2112V;ENSP00000418137:A2131V	ENSP00000295937:A2112V	A	-	2	0	DNAH12	57366604	1.000000	0.71417	0.955000	0.39395	0.087000	0.18053	7.846000	0.86887	2.585000	0.87301	0.650000	0.86243	GCC	DNAH12	-	superfamily_P-loop_NTPase	ENSG00000174844		0.443	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		-	0	56	0	G	NM_178504		57391564	-1	tier1	-	no_errors	ENST00000351747	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.793	A	A	57391564	G	A	57391564	3	1	177	1	0	0	0	0	1	0	0	0	4614	1203	42	3	3019	3	DNAH12	3	57391564	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	3587062	57391564	140630866	41	44050											
PDZRN3	23024	genome.wustl.edu	37	chr3	73433188	73433188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggggctccggctcccgtcGctggctctccgctctttgct	0	12	13	16	4	2	0	0	0	2	0	6	0	4	0	3	4	1	6	3	4	0	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:73433188G>A	ENST00000263666.4	-	10	2643	c.2529C>T	c.(2527-2529)agC>agT	p.S843S	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Silent_p.S500S|PDZRN3_ENST00000479530.1_Silent_p.S560S|PDZRN3_ENST00000462146.2_Silent_p.S500S|PDZRN3_ENST00000535920.1_Silent_p.S565S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	843					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)		GGCTCCCGTCGCTGGCTCTCC	0.662																																																	0													37	43	41					3																	73433188		2202	4300	6502	SO:0001819	synonymous_variant	0			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.2529C>T	3.37:g.73433188G>A			A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.S843	ENST00000263666.4	37	c.2529	CCDS33789.1	3																																																																																			PDZRN3	-	NULL	ENSG00000121440		0.662	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0	45	0	G	XM_041363		73433188	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.361	A	A	73433188	G	A	73433188	2	1	177	1	0	0	0	0	0	0	0	1	11748	1078	38	1		1	PDZRN3	3	73433188	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	16041624	73433188	124589242	42	44051											
DNAJC13	23317	genome.wustl.edu	37	chr3	132175635	132175635	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctgtgaggaggcttgtGgcatccaaagctggtttcct	7	11	14	9	0	0	1	0	1	0	0	2	2	2	2	2	5	1	5	2	5	1	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:132175635G>T	ENST00000260818.6	+	12	1556	c.1308G>T	c.(1306-1308)gtG>gtT	p.V436V	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	436					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						GGAGGCTTGTGGCATCCAAAG	0.433																																																	0													93	89	90					3																	132175635		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1308G>T	3.37:g.132175635G>T			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.V436	ENST00000260818.6	37	c.1308	CCDS33857.1	3																																																																																			DNAJC13	-	NULL	ENSG00000138246		0.433	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	-	0	44	0	G	NM_015268		132175635	1	tier1	-	no_errors	ENST00000260818	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.985	T	T	132175635	G	T	132175635	2	4	177	1	0	0	0	0	0	0	0	1	4646	1335	47	3		3	DNAJC13	3	132175635	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	58742447	132175635	65846795	43	44052											
KCNMB2	10242	genome.wustl.edu	37	chr3	178560673	178560673	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattgttgccatggtgaaacTtacacagtacctctccctac	11	12	6	12	0	1	1	0	1	1	0	2	1	1	1	3	1	5	2	3	1	5	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:178560673T>G	ENST00000432997.1	+	5	1008	c.656T>G	c.(655-657)cTt>cGt	p.L219R	KCNMB2_ENST00000358316.3_Missense_Mutation_p.L219R|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.L219R|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.L219R	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	233					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	ATGGTGAAACTTACACAGTAC	0.398																																																	0													87	85	86					3																	178560673		2203	4299	6502	SO:0001583	missense	0			AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"Potassium channels"	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.656T>G	3.37:g.178560673T>G	ENSP00000407592:p.Leu219Arg		B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu	p.L219R	ENST00000432997.1	37	c.656	CCDS3223.1	3	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980292	0.74474	.	.	ENSG00000197584	ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.76	5.76	0.90799	.	0.059628	0.64402	D	0.000003	T	0.35856	0.0946	M	0.69358	2.11	0.80722	D	1	P	0.42941	0.794	P	0.60068	0.868	T	0.03008	-1.1083	10	0.87932	D	0	-15.1203	16.087	0.81065	0.0:0.0:0.0:1.0	.	219	Q9Y691	KCMB2_HUMAN	R	219;219;219;219;200	ENSP00000408252:L219R;ENSP00000397483:L219R;ENSP00000407592:L219R;ENSP00000351068:L219R	ENSP00000351068:L219R	L	+	2	0	KCNMB2	180043367	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.452000	0.80683	2.202000	0.70862	0.533000	0.62120	CTT	KCNMB2	-	pfam_K_chnl_Ca-activ_BK_bsu	ENSG00000197584		0.398	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNMB2	HGNC	protein_coding	OTTHUMT00000348251.1	-	0	59	0	T	NM_181361		178560673	1	tier1	-	no_errors	ENST00000358316	ensembl	human	known	74_37	missense	67.50	13	27	SNP	1.000	G	G	178560673	T	G	178560673	3	3	177	1	0	0	0	0	1	0	0	0	8102	1609	56	4	670	4	KCNMB2	3	178560673	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	46385038	178560673	19461757	44	44053											
EVC2	132884	genome.wustl.edu	37	chr4	5624468	5624468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggaagagccagggcaccccaCgcttgagcagctcctgggtc	8	5	14	14	1	0	2	0	1	0	1	2	3	1	3	4	3	3	4	4	3	1	1	rs149854557		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:5624468C>T	ENST00000344408.5	-	14	2350	c.2297G>A	c.(2296-2298)cGt>cAt	p.R766H	EVC2_ENST00000310917.2_Missense_Mutation_p.R686H|EVC2_ENST00000344938.1_Missense_Mutation_p.R766H	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	766					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)		p.R766H(1)		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						GGGCACCCCACGCTTGAGCAG	0.647																																																	1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	49	47	48		2057,2297	2	0.4	4	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	EVC2	NM_001166136.1,NM_147127.4	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	686/1229,766/1309	5624468	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2297G>A	4.37:g.5624468C>T	ENSP00000342144:p.Arg766His		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.R766H	ENST00000344408.5	37	c.2297	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	C	9.512	1.105964	0.20632	0.0	1.16E-4	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74632	-0.86;-0.85;-0.86	5.32	1.95	0.26073	.	0.435130	0.24698	N	0.036337	T	0.59851	0.2224	L	0.51422	1.61	0.23568	N	0.997395	B	0.15719	0.014	B	0.08055	0.003	T	0.36504	-0.9745	10	0.15066	T	0.55	-9.7772	4.5016	0.11867	0.3113:0.4754:0.0:0.2133	.	766	Q86UK5	LBN_HUMAN	H	766;686;766	ENSP00000339954:R766H;ENSP00000311683:R686H;ENSP00000342144:R766H	ENSP00000311683:R686H	R	-	2	0	EVC2	5675369	0.676000	0.27567	0.383000	0.26132	0.377000	0.30045	1.072000	0.30678	0.504000	0.28082	0.462000	0.41574	CGT	EVC2	-	NULL	ENSG00000173040		0.647	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2		0	23	0	C	NM_147127		5624468	-1			no_errors	ENST00000344408	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.579	T	T	5624468	C	T	5624468	3	4	177	1	0	0	0	0	1	0	0	0	5302	536	19	1	1665	1	EVC2	4	5624468	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09		5624468	185529808	45	44054											
C4orf50	389197	genome.wustl.edu	37	chr4	5975443	5975444	+	Frame_Shift_Del	DEL	GA	GA	-																															tcagccagtgccacgtcgttGagcatgttctgcgccagctc																										TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:5975443_5975444delGA	ENST00000324058.5	-	4	439_440	c.350_351delTC	c.(349-351)ctcfs	p.L117fs	C4orf50_ENST00000531445.1_Frame_Shift_Del_p.L591fs			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	117										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CCACGTCGTTGAGCATGTTCTG	0.624																																																	0																																										SO:0001589	frameshift_variant	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.350_351delTC	4.37:g.5975443_5975444delGA	ENSP00000317287:p.Leu117fs			Frame_Shift_Del	DEL	NULL	p.L591fs	ENST00000324058.5	37	c.1773_1772		4																																																																																			C4orf50	-	NULL	ENSG00000181215		0.624	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding			0	30	0	GA	NM_207405		5975444	-1	tier1		no_errors	ENST00000531445	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.001:0.023	-	-	5975444	GA	-	5975443	7	5	177	1	0	1	0	1	0	0	0	0	2283	1277	45	0	495	0	C4orf50	4	5975443	Frame_Shift_Del	DEL	GA	TCGA-X8-AAAR-01A-11D-A403-09	350975	5975443	185178833	46	44055											
HS3ST1	9957	genome.wustl.edu	37	chr4	11401465	11401465	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgccgatgatgatggtctgCggcaactgctgggcagagcc	8	7	15	11	3	1	3	0	2	1	1	1	4	1	3	2	3	4	3	2	3	1	0			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:11401465C>T	ENST00000002596.5	-	2	1339	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	55					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						TGATGGTCTGCGGCAACTGCT	0.692																																																	0													32	29	30					4																	11401465		2202	4298	6500	SO:0001819	synonymous_variant	0			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.165G>A	4.37:g.11401465C>T			B3KUA6|Q6PEY8	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P55	ENST00000002596.5	37	c.165	CCDS3408.1	4																																																																																			HS3ST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000002587		0.692	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	HGNC	protein_coding	OTTHUMT00000207073.3	-	0	21	0	C	NM_005114		11401465	-1	tier1	-	no_errors	ENST00000002596	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.621	T	T	11401465	C	T	11401465	2	4	177	1	0	0	0	0	0	0	0	1	7390	755	27	1		1	HS3ST1	4	11401465	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	5426022	11401465	179752811	47	44056											
BOD1L	259282	genome.wustl.edu	37	chr4	13603728	13603728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggtttcactttcagcaaatCcctctgtgacaacagcccca	11	10	6	14	0	3	1	2	1	1	0	4	1	4	1	3	1	3	2	3	1	2	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:13603728C>T	ENST00000040738.5	-	10	4931	c.4796G>A	c.(4795-4797)gGa>gAa	p.G1599E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1599						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G1599E(1)									TTCAGCAAATCCCTCTGTGAC	0.498																																																	1	Substitution - Missense(1)	lung(1)											61	58	59					4																	13603728		2203	4300	6503	SO:0001583	missense	0			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.4796G>A	4.37:g.13603728C>T	ENSP00000040738:p.Gly1599Glu		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.G1599E	ENST00000040738.5	37	c.4796	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439789	0.63067	.	.	ENSG00000038219	ENST00000040738	T	0.31247	1.5	5.23	5.23	0.72850	.	0.000000	0.53938	D	0.000056	T	0.46405	0.1391	L	0.36672	1.1	0.46749	D	0.999186	D	0.89917	1.0	D	0.91635	0.999	T	0.28554	-1.0040	10	0.38643	T	0.18	-13.5113	16.9701	0.86296	0.0:1.0:0.0:0.0	.	1599	Q8NFC6	BOD1L_HUMAN	E	1599	ENSP00000040738:G1599E	ENSP00000040738:G1599E	G	-	2	0	BOD1L	13212826	0.999000	0.42202	0.970000	0.41538	0.535000	0.34838	4.770000	0.62309	2.429000	0.82318	0.650000	0.86243	GGA	BOD1L1	-	NULL	ENSG00000038219		0.498	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1		0	22	0	C	NM_148894		13603728	-1			no_errors	ENST00000040738	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.998	T	T	13603728	C	T	13603728	3	4	177	1	0	0	0	0	1	0	0	0	1485	855	30	3	4427	3	BOD1L	4	13603728	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	2202263	13603728	177550548	48	44057											
CC2D2A	57545	genome.wustl.edu	37	chr4	15480941	15480941	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagcatcccgtgcagggtaAatcttttcaaggtaagtcct	10	11	11	9	1	2	0	1	0	1	0	4	1	4	1	2	3	2	4	2	3	4	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:15480941A>G	ENST00000503292.1	+	4	303				CC2D2A_ENST00000513811.1_Intron|CC2D2A_ENST00000413206.1_Intron|CC2D2A_ENST00000389652.5_5'UTR|CC2D2A_ENST00000511544.1_Missense_Mutation_p.K73R|CC2D2A_ENST00000515124.1_Intron|CC2D2A_ENST00000424120.1_Intron|CC2D2A_ENST00000503658.1_Missense_Mutation_p.K73R|CC2D2A_ENST00000507954.1_Intron|CC2D2A_ENST00000438599.2_Missense_Mutation_p.K73R	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GTGCAGGGTAAATCTTTTCAA	0.552											OREG0016121	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													82	82	82					4																	15480941		692	1591	2283	SO:0001627	intron_variant	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.123+511A>G	4.37:g.15480941A>G		703	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	NULL	p.K73R	ENST00000503292.1	37	c.218	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672299	0.47781	.	.	ENSG00000048342	ENST00000438599;ENST00000511544;ENST00000503658	T;T;T	0.69561	-0.41;-0.41;-0.41	4.36	-3.22	0.05125	.	.	.	.	.	T	0.39886	0.1095	N	0.08118	0	0.09310	N	1	B;B	0.20052	0.041;0.021	B;B	0.18871	0.023;0.008	T	0.18493	-1.0335	9	0.42905	T	0.14	.	6.0459	0.19760	0.3328:0.4828:0.1844:0.0	.	34;73	Q8WVL8;E7EP21	.;.	R	73	ENSP00000401154:K73R;ENSP00000426109:K73R;ENSP00000426846:K73R	ENSP00000401154:K73R	K	+	2	0	CC2D2A	15090039	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.093000	0.11111	-0.638000	0.05509	-0.491000	0.04670	AAA	CC2D2A	-	NULL	ENSG00000048342		0.552	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	-	0	30	0	A	NM_001080522		15480941	1	tier1	-	no_errors	ENST00000438599	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.000	G	G	15480941	A	G	15480941	1	3	177	0	1	0	0	0	0	0	0	0	2735	14	1	4		4	CC2D2A	4	15480941	Intron	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	1877213	15480941	175673335	49	44058											
BEND4	389206	genome.wustl.edu	37	chr4	42145546	42145548	+	In_Frame_Del	DEL	TCC	TCC	-																															gaggacaatagccttcctcgTcctcctcctcctcctcttct																								rs371326280		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:42145546_42145548delTCC	ENST00000502486.1	-	3	1530_1532	c.951_953delGGA	c.(949-954)gaggac>gac	p.E317del	BEND4_ENST00000504360.1_In_Frame_Del_p.E313del	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	317										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GCCTtcctcgtcctcctcctcct	0.517																																																	0									,	18,3784		0,18,1883					,	-4.7	0.4			49	39,7837		1,37,3900	no	coding,coding	BEND4	NM_207406.3,NM_001159547.1	,	1,55,5783	A1A1,A1R,RR		0.4952,0.4734,0.4881	,	,		57,11621				SO:0001651	inframe_deletion	0			AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.951_953delGGA	4.37:g.42145555_42145557delTCC	ENSP00000421169:p.Glu317del		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	In_Frame_Del	DEL	pfam_BEN_domain	p.E317in_frame_del	ENST00000502486.1	37	c.953_951	CCDS47048.1	4																																																																																			BEND4	-	NULL	ENSG00000188848		0.517	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	HGNC	protein_coding	OTTHUMT00000360975.2		0	45	0	TCC	NM_207406		42145548	-1	tier1		no_errors	ENST00000502486	ensembl	human	known	74_37	in_frame_del	6.90	27	2	DEL	1.000:1.000:1.000	-	-	42145548	TCC	-	42145546	7	5	177	1	0	1	0	1	0	0	0	0	1401	1667	58	0	667	0	BEND4	4	42145546	In_Frame_Del	DEL	TCC	TCGA-X8-AAAR-01A-11D-A403-09	26664605	42145546	149008730	50	44059											
GABRB1	2560	genome.wustl.edu	37	chr4	47163449	47163449	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaaatcgaatgattCgactgcatcctgatggaaca	15	9	9	8	2	0	3	0	3	0	0	3	6	1	4	1	1	2	1	1	1	4	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:47163449C>A	ENST00000295454.3	+	4	716	c.424C>A	c.(424-426)Cga>Aga	p.R142R	GABRB1_ENST00000538619.1_Silent_p.R72R	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	142					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)	p.R142*(1)		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)	TCGAATGATTCGACTGCATCC	0.393																																																	1	Substitution - Nonsense(1)	large_intestine(1)											154	142	146					4																	47163449		2203	4300	6503	SO:0001819	synonymous_variant	0				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.424C>A	4.37:g.47163449C>A			B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R142	ENST00000295454.3	37	c.424	CCDS3474.1	4																																																																																			GABRB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000163288		0.393	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1		0	32	0	C			47163449	1			no_errors	ENST00000295454	ensembl	human	known	74_37	silent	5.66	50	3	SNP	1.000	A	A	47163449	C	A	47163449	2	1	177	1	0	0	0	0	0	0	0	1	6190	876	31	2		2	GABRB1	4	47163449	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	5017903	47163449	143990827	51	44060											
C4orf17	84103	genome.wustl.edu	37	chr4	100443715	100443715	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gagaatgcatttggaacattGtggggagttggccagtctaa	11	11	14	5	0	1	1	0	0	1	1	1	4	1	3	1	4	2	2	1	4	3	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:100443715G>T	ENST00000326581.4	+	3	548	c.186G>T	c.(184-186)ttG>ttT	p.L62F	C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000514652.1_Missense_Mutation_p.L62F	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	62										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)		TTGGAACATTGTGGGGAGTTG	0.433																																																	0													176	153	161					4																	100443715		2203	4300	6503	SO:0001583	missense	0			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.186G>T	4.37:g.100443715G>T	ENSP00000322582:p.Leu62Phe		Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	NULL	p.L62F	ENST00000326581.4	37	c.186	CCDS3649.1	4	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161156	0.21538	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.21734	2.0;1.99	5.18	2.33	0.28932	.	0.437693	0.16586	N	0.207991	T	0.21674	0.0522	M	0.73962	2.25	0.09310	N	1	B	0.17852	0.024	B	0.22601	0.04	T	0.21827	-1.0234	10	0.41790	T	0.15	2.8103	4.0266	0.09690	0.095:0.1904:0.5724:0.1422	.	62	Q53FE4	CD017_HUMAN	F	62	ENSP00000322582:L62F;ENSP00000427663:L62F	ENSP00000322582:L62F	L	+	3	2	C4orf17	100662738	0.001000	0.12720	0.007000	0.13788	0.001000	0.01503	0.153000	0.16323	0.767000	0.33267	-0.238000	0.12139	TTG	C4orf17	-	NULL	ENSG00000138813		0.433	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf17	HGNC	protein_coding	OTTHUMT00000253670.2	-	0	57	0	G	NM_032149		100443715	1	tier1	-	no_errors	ENST00000326581	ensembl	human	known	74_37	missense	5.88	80	5	SNP	0.004	T	T	100443715	G	T	100443715	3	4	177	1	0	0	0	0	1	0	0	0	2259	1368	48	3	192	3	C4orf17	4	100443715	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	53280266	100443715	90710561	52	44061											
PPA2	27068	genome.wustl.edu	37	chr4	106317440	106317440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccattacacttcttcataaGcaatgctttccaacattgat	12	15	3	11	0	2	1	1	1	1	0	4	1	4	1	2	0	4	2	2	0	4	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:106317440G>A	ENST00000341695.5	-	9	865	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	PPA2_ENST00000348706.5_Missense_Mutation_p.L250F|PPA2_ENST00000357415.4_Missense_Mutation_p.L294F|PPA2_ENST00000380004.2_Missense_Mutation_p.L261F|PPA2_ENST00000432483.2_Missense_Mutation_p.L177F|PPA2_ENST00000354147.3_Missense_Mutation_p.L113F|PPA2_ENST00000509426.1_5'Flank	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	279					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TTCTTCATAAGCAATGCTTTC	0.294																																																	0													96	91	93					4																	106317440		2203	4296	6499	SO:0001583	missense	0				CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.835C>T	4.37:g.106317440G>A	ENSP00000343885:p.Leu279Phe		B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	pfam_Pyrophosphatase,superfamily_Pyrophosphatase	p.L294F	ENST00000341695.5	37	c.880	CCDS3667.1	4	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494086	0.64186	.	.	ENSG00000138777	ENST00000341695;ENST00000348706;ENST00000354147;ENST00000432483;ENST00000357415;ENST00000380004	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.93	4.16	0.48862	.	0.205916	0.42420	D	0.000710	T	0.59224	0.2178	L	0.53249	1.67	0.80722	D	1	D;D;P;P;P	0.65815	0.995;0.995;0.886;0.955;0.819	D;D;P;P;B	0.66979	0.923;0.948;0.637;0.638;0.434	T	0.61540	-0.7042	10	0.59425	D	0.04	-17.6208	16.534	0.84368	0.0:0.381:0.619:0.0	.	113;177;250;261;279	Q9H2U2-4;F8WDN9;Q9H2U2-3;E2QRM6;Q9H2U2	.;.;.;.;IPYR2_HUMAN	F	279;250;113;177;294;261	ENSP00000343885:L279F;ENSP00000313061:L250F;ENSP00000340352:L113F;ENSP00000389957:L177F;ENSP00000349996:L294F;ENSP00000369340:L261F	ENSP00000343885:L279F	L	-	1	0	PPA2	106536889	1.000000	0.71417	0.271000	0.24616	0.994000	0.84299	0.836000	0.27545	0.779000	0.33543	0.655000	0.94253	CTT	PPA2	-	superfamily_Pyrophosphatase	ENSG00000138777		0.294	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPA2	HGNC	protein_coding	OTTHUMT00000250704.4	-	0	299	0	G	NM_176869		106317440	-1	tier1	-	no_errors	ENST00000357415	ensembl	human	known	74_37	missense	31.75	245	114	SNP	0.998	A	A	106317440	G	A	106317440	3	1	177	1	0	0	0	0	1	0	0	0	12326	971	34	3	185	3	PPA2	4	106317440	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	5873725	106317440	84836836	53	44062											
SEC24B	10427	genome.wustl.edu	37	chr4	110415842	110415842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcctgcttctgctccaGctccagcttcagctccagct	5	12	7	17	0	2	1	1	1	1	0	6	1	6	1	4	0	6	6	4	0	0	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:110415842G>A	ENST00000265175.5	+	6	1373	c.1318G>A	c.(1318-1320)Gct>Act	p.A440T	SEC24B_ENST00000399100.2_Missense_Mutation_p.A405T|SEC24B_ENST00000504968.2_Missense_Mutation_p.A471T	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	440					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)		TTCTGCTCCAGCTCCAGCTTC	0.493																																																	0													101	110	107					4																	110415842		2166	4295	6461	SO:0001583	missense	0			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.1318G>A	4.37:g.110415842G>A	ENSP00000265175:p.Ala440Thr		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.A440T	ENST00000265175.5	37	c.1318	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.484811	0.01027	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.79141	-1.05;-1.2;-1.24	3.73	2.89	0.33648	.	1.213790	0.05797	N	0.611376	T	0.64046	0.2563	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.001	B;B;B;B;B	0.08055	0.001;0.0;0.001;0.003;0.001	T	0.48581	-0.9023	10	0.18710	T	0.47	.	7.2539	0.26164	0.1199:0.0:0.8801:0.0	.	355;39;471;405;440	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	T	471;405;440	ENSP00000428564:A471T;ENSP00000382051:A405T;ENSP00000265175:A440T	ENSP00000265175:A440T	A	+	1	0	SEC24B	110635291	0.003000	0.15002	0.029000	0.17559	0.036000	0.12997	1.012000	0.29924	1.166000	0.42689	-0.237000	0.12165	GCT	SEC24B	-	NULL	ENSG00000138802		0.493	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	-	0	32	0	G			110415842	1	tier1	-	no_errors	ENST00000265175	ensembl	human	known	74_37	missense	33.33	32	16	SNP	0.030	A	A	110415842	G	A	110415842	3	1	177	1	0	0	0	0	1	0	0	0	14040	971	34	3	1340	3	SEC24B	4	110415842	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	4098402	110415842	80738434	54	44063											
NDST4	64579	genome.wustl.edu	37	chr4	115898389	115898389	+	Silent	SNP	T	T	C	0	1	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	ccaaggttgaaggtaaaattTgcaacctgagtgcgcagtaa	14	9	11	7	1	0	2	0	2	0	0	0	2	0	2	2	2	3	5	2	2	6	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:115898389T>C	ENST00000264363.2	-	3	1698	c.1020A>G	c.(1018-1020)gcA>gcG	p.A340A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	340	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)		AGGTAAAATTTGCAACCTGAG	0.328																																																	0													83	87	86					4																	115898389		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1020A>G	4.37:g.115898389T>C			Q2KHM8	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.A340	ENST00000264363.2	37	c.1020	CCDS3706.1	4																																																																																			NDST4	-	pfam_Heparan_SO4_deacetylase	ENSG00000138653		0.328	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	-	0	65	0	T	NM_022569		115898389	-1	tier1	-	no_errors	ENST00000264363	ensembl	human	known	74_37	silent	32.71	72	35	SNP	1.000	C	C	115898389	T	C	115898389	2	2	177	1	0	0	0	0	0	0	0	1	10297	1799	63	4		4	NDST4	4	115898389	Silent	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	5482547	115898389	75255887	55	44064											
ELF2	1998	genome.wustl.edu	37	chr4	139994616	139994616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtttacataccaggacttCttgaatccctcaagcaggta	12	11	7	11	0	2	1	1	1	1	0	3	2	3	2	2	2	3	3	2	2	5	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:139994616C>T	ENST00000394235.2	-	5	846	c.344G>A	c.(343-345)aGa>aAa	p.R115K	ELF2_ENST00000265495.4_Missense_Mutation_p.R115K|ELF2_ENST00000379550.1_Missense_Mutation_p.R115K|ELF2_ENST00000379549.2_Missense_Mutation_p.R55K|ELF2_ENST00000510408.1_Missense_Mutation_p.R55K|ELF2_ENST00000358635.3_Missense_Mutation_p.R55K	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					ACCAGGACTTCTTGAATCCCT	0.363																																																	0													96	90	92					4																	139994616		2203	4300	6503	SO:0001583	missense	0			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.344G>A	4.37:g.139994616C>T	ENSP00000377782:p.Arg115Lys			Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R115K	ENST00000394235.2	37	c.344	CCDS3744.1	4	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086736	0.36855	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000510408;ENST00000420916;ENST00000512627	T;T;T;T;T;T;T;T	0.15372	2.74;2.97;2.92;2.97;2.99;2.69;2.61;2.43	5.25	4.37	0.52481	.	0.048555	0.85682	D	0.000000	T	0.13884	0.0336	L	0.27053	0.805	0.40664	D	0.982152	B;B;B;B;B	0.26902	0.016;0.136;0.006;0.163;0.008	B;B;B;B;B	0.27380	0.011;0.079;0.017;0.049;0.019	T	0.11203	-1.0597	9	.	.	.	.	17.4392	0.87561	0.0:0.865:0.135:0.0	.	55;115;55;55;55	B0KYV4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	K	55;115;115;115;55;55;55;55	ENSP00000351458:R55K;ENSP00000377782:R115K;ENSP00000368868:R115K;ENSP00000265495:R115K;ENSP00000368867:R55K;ENSP00000426997:R55K;ENSP00000397796:R55K;ENSP00000426087:R55K	.	R	-	2	0	ELF2	140214066	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.624000	0.61254	2.462000	0.83206	0.557000	0.71058	AGA	ELF2	-	NULL	ENSG00000109381		0.363	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF2	HGNC	protein_coding	OTTHUMT00000257233.2	-	0	53	0	C	NM_006874		139994616	-1	tier1	-	no_errors	ENST00000379550	ensembl	human	known	74_37	missense	18.69	87	20	SNP	1.000	T	T	139994616	C	T	139994616	3	4	177	1	0	0	0	0	1	0	0	0	5070	913	32	3	1461	3	ELF2	4	139994616	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	24096227	139994616	51159660	56	44065											
GLRB	2743	genome.wustl.edu	37	chr4	158074057	158074057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagggttgaagctgaaaaAgccagaattgctaaggctga	17	7	12	5	0	0	4	0	3	0	1	0	4	0	4	1	2	3	4	1	2	7	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:158074057A>C	ENST00000264428.4	+	9	1362	c.1092A>C	c.(1090-1092)aaA>aaC	p.K364N	GLRB_ENST00000509282.1_Missense_Mutation_p.K364N|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	364					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	AAGCTGAAAAAGCCAGAATTG	0.448																																																	0													113	110	111					4																	158074057		2203	4300	6503	SO:0001583	missense	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1092A>C	4.37:g.158074057A>C	ENSP00000264428:p.Lys364Asn		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.K364N	ENST00000264428.4	37	c.1092	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	A	18.27	3.586875	0.66105	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.86497	-2.13;-2.13	5.32	-2.6	0.06190	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.215245	0.31381	U	0.007746	D	0.83871	0.5348	M	0.62088	1.915	0.80722	D	1	P	0.37914	0.611	B	0.40410	0.328	T	0.78663	-0.2116	10	0.62326	D	0.03	.	11.9189	0.52781	0.5575:0.0:0.4425:0.0	.	364	P48167	GLRB_HUMAN	N	364	ENSP00000264428:K364N;ENSP00000427186:K364N	ENSP00000264428:K364N	K	+	3	2	GLRB	158293507	0.998000	0.40836	0.974000	0.42286	0.989000	0.77384	0.681000	0.25320	-0.602000	0.05775	0.533000	0.62120	AAA	GLRB	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000109738		0.448	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	-	0	72	0	A	NM_000824		158074057	1	tier1	-	no_errors	ENST00000264428	ensembl	human	known	74_37	missense	31.76	58	27	SNP	0.997	C	C	158074057	A	C	158074057	3	2	177	1	0	0	0	0	1	0	0	0	6484	69	3	4	1122	4	GLRB	4	158074057	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	18079441	158074057	33080219	57	44066											
GHR	2690	genome.wustl.edu	37	chr5	42629169	42629169	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctatccttagcagagcacccTggagtctgcaaagtgttaat	11	11	9	10	0	1	1	0	0	1	1	2	2	2	2	2	1	3	4	2	1	4	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:42629169T>C	ENST00000230882.4	+	3	290	c.100T>C	c.(100-102)Tgg>Cgg	p.W34R	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Intron	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	34					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGAGCACCCTGGAGTCTGCA	0.383																																																	0													100	108	105					5																	42629169		1826	4040	5866	SO:0001583	missense	0				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.100T>C	5.37:g.42629169T>C	ENSP00000230882:p.Trp34Arg		Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.W34R	ENST00000230882.4	37	c.100	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	T	5.825	0.336541	0.11013	.	.	ENSG00000112964	ENST00000230882;ENST00000356276	D	0.83992	-1.79	4.21	1.18	0.20946	.	1.111380	0.06808	N	0.789852	T	0.61874	0.2382	N	0.08118	0	0.50039	D	0.999847	B	0.02656	0.0	B	0.06405	0.002	T	0.55360	-0.8153	10	0.12430	T	0.62	1.6742	2.6959	0.05135	0.1893:0.5234:0.1836:0.1036	.	34	P10912	GHR_HUMAN	R	34	ENSP00000230882:W34R	ENSP00000230882:W34R	W	+	1	0	GHR	42664926	0.003000	0.15002	0.710000	0.30468	0.719000	0.41307	0.546000	0.23284	0.272000	0.22027	-0.177000	0.13119	TGG	GHR	-	NULL	ENSG00000112964		0.383	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	-	0	49	0	T	NM_000163		42629169	1	tier1	-	no_errors	ENST00000230882	ensembl	human	known	74_37	missense	63.41	15	26	SNP	0.811	C	C	42629169	T	C	42629169	3	2	177	1	0	0	0	0	1	0	0	0	6397	1580	55	4	106	4	GHR	5	42629169	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09		42629169	138286091	58	44067											
ACTBL2	345651	genome.wustl.edu	37	chr5	56778129	56778129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggacagcacagcctggatggCgacatacatggctggtgtgt	9	8	15	9	1	0	0	0	0	0	0	0	3	0	2	1	5	3	2	1	5	1	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:56778129C>T	ENST00000423391.1	-	1	507	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	136						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)		GCCTGGATGGCGACATACATG	0.557																																																	0													114	96	102					5																	56778129		2203	4300	6503	SO:0001583	missense	0				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.406G>A	5.37:g.56778129C>T	ENSP00000416706:p.Ala136Thr		B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.A136T	ENST00000423391.1	37	c.406	CCDS34163.1	5	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338239	0.41398	.	.	ENSG00000169067	ENST00000423391	D	0.95137	-3.62	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000006	D	0.95726	0.8610	M	0.85859	2.78	0.58432	D	0.999992	B	0.27625	0.183	B	0.39562	0.303	D	0.95764	0.8803	10	0.87932	D	0	.	15.027	0.71677	0.0:1.0:0.0:0.0	.	136	Q562R1	ACTBL_HUMAN	T	136	ENSP00000416706:A136T	ENSP00000416706:A136T	A	-	1	0	ACTBL2	56813886	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	5.921000	0.70028	2.383000	0.81215	0.563000	0.77884	GCC	ACTBL2	-	pfam_Actin-related,smart_Actin-related	ENSG00000169067		0.557	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	HGNC	protein_coding	OTTHUMT00000368579.1	-	0	31	0	C	NM_001017992		56778129	-1	tier1	-	no_errors	ENST00000423391	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	T	T	56778129	C	T	56778129	3	4	177	1	0	0	0	0	1	0	0	0	194	768	27	1	728	1	ACTBL2	5	56778129	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	14148960	56778129	124137131	59	44068											
SGTB	54557	genome.wustl.edu	37	chr5	64967752	64967752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatacttacgcttggatgaGgcttgacaggtcagttaggc	10	12	12	7	1	1	2	1	2	0	0	1	3	1	3	0	4	2	3	0	4	4	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:64967752G>T	ENST00000381007.4	-	10	1028	c.793C>A	c.(793-795)Ctc>Atc	p.L265I		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	265										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)		GCTTGGATGAGGCTTGACAGG	0.413																																																	0													44	43	43					5																	64967752		2203	4300	6503	SO:0001583	missense	0			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.793C>A	5.37:g.64967752G>T	ENSP00000370395:p.Leu265Ile			Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L265I	ENST00000381007.4	37	c.793	CCDS3988.1	5	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224633	0.79576	.	.	ENSG00000197860	ENST00000381007	T	0.65178	-0.14	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.80423	0.4620	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.80580	-0.1319	10	0.52906	T	0.07	-1.7541	19.3618	0.94442	0.0:0.0:1.0:0.0	.	265	Q96EQ0	SGTB_HUMAN	I	265	ENSP00000370395:L265I	ENSP00000370395:L265I	L	-	1	0	SGTB	65003508	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.668000	0.68074	2.794000	0.96219	0.650000	0.86243	CTC	SGTB	-	NULL	ENSG00000197860		0.413	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	HGNC	protein_coding	OTTHUMT00000215057.2	-	0	64	0	G	NM_019072		64967752	-1	tier1	-	no_errors	ENST00000381007	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	64967752	G	T	64967752	3	4	177	1	0	0	0	0	1	0	0	0	14271	1000	35	3	129	3	SGTB	5	64967752	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	8189623	64967752	115947508	60	44069											
SV2C	22987	genome.wustl.edu	37	chr5	75594629	75594629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttgggcagattcatagggGtcaagttcaaatctgtaact	11	13	11	6	0	4	1	3	0	1	1	4	1	4	1	0	3	1	4	0	3	4	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:75594629G>T	ENST00000502798.2	+	10	1955	c.1513G>T	c.(1513-1515)Gtc>Ttc	p.V505F	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.V505F	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	505					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.V505F(1)		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)		ATTCATAGGGGTCAAGTTCAA	0.368																																																	1	Substitution - Missense(1)	lung(1)											207	188	194					5																	75594629		1847	4090	5937	SO:0001583	missense	0			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.1513G>T	5.37:g.75594629G>T	ENSP00000423541:p.Val505Phe		Q496K1|Q9UPU8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.V505F	ENST00000502798.2	37	c.1513	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716361	0.48622	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.45668	0.89;0.89	5.07	1.37	0.22104	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.194095	0.52532	D	0.000066	T	0.20861	0.0502	N	0.08118	0	0.38894	D	0.957176	B	0.21147	0.052	B	0.25759	0.063	T	0.06041	-1.0849	10	0.72032	D	0.01	-15.0591	6.2791	0.20997	0.5538:0.0:0.4462:0.0	.	505	Q496J9	SV2C_HUMAN	F	505	ENSP00000423541:V505F;ENSP00000316983:V505F	ENSP00000316983:V505F	V	+	1	0	SV2C	75630385	1.000000	0.71417	0.989000	0.46669	0.869000	0.49853	4.506000	0.60428	0.484000	0.27630	0.650000	0.86243	GTC	SV2C	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	ENSG00000122012		0.368	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4		0	57	0	G			75594629	1			no_errors	ENST00000502798	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.985	T	T	75594629	G	T	75594629	3	4	177	1	0	0	0	0	1	0	0	0	15466	1261	44	3	1547	3	SV2C	5	75594629	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	10626877	75594629	105320631	61	44070											
ADAMTS19	171019	genome.wustl.edu	37	chr5	128984637	128984637	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcctccccaaagcatatacTtcagtggcaagctgtcctgg	9	11	8	13	0	1	0	1	0	0	0	4	0	4	0	4	2	3	3	4	2	4	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:128984637T>G	ENST00000274487.4	+	13	2277	c.2132T>G	c.(2131-2133)cTt>cGt	p.L711R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	711	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)		AAGCATATACTTCAGTGGCAA	0.433																																																	0													169	173	171					5																	128984637		2203	4300	6503	SO:0001583	missense	0			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.2132T>G	5.37:g.128984637T>G	ENSP00000274487:p.Leu711Arg			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L711R	ENST00000274487.4	37	c.2132	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	T	12.40	1.925223	0.34002	.	.	ENSG00000145808	ENST00000274487	T	0.59083	0.29	4.41	1.89	0.25635	.	0.350989	0.22655	N	0.057271	T	0.21509	0.0518	N	0.01352	-0.895	0.34640	D	0.720525	P	0.41947	0.766	B	0.34242	0.178	T	0.28004	-1.0057	9	.	.	.	.	9.675	0.40034	0.6308:0.0:0.0:0.3691	.	711	Q8TE59	ATS19_HUMAN	R	711	ENSP00000274487:L711R	.	L	+	2	0	ADAMTS19	129012536	0.749000	0.28305	0.960000	0.40013	0.984000	0.73092	0.465000	0.22004	0.407000	0.25591	0.533000	0.62120	CTT	ADAMTS19	-	NULL	ENSG00000145808		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0	66	0	T	NM_133638		128984637	1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	61.90	16	26	SNP	0.992	G	G	128984637	T	G	128984637	3	3	177	1	0	0	0	0	1	0	0	0	264	1609	56	4	2182	4	ADAMTS19	5	128984637	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	53390008	128984637	51930623	62	44071											
PCDHA11	56138	genome.wustl.edu	37	chr5	140250526	140250526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ttcatatgaattgcagccggCggcgggcggctcgcgcatcc	6	8	14	13	6	1	1	1	1	0	0	3	1	2	1	2	4	2	3	2	4	2	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:140250526C>T	ENST00000398640.2	+	1	1838	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V	PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	613	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCAGCCGGCGGCGGGCGGC	0.682																																																	0													46	56	53					5																	140250526		2202	4299	6501	SO:0001583	missense	0			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.1838C>T	5.37:g.140250526C>T	ENSP00000381636:p.Ala613Val		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A613V	ENST00000398640.2	37	c.1838	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	1.145	-0.648476	0.03506	.	.	ENSG00000249158	ENST00000398640	T	0.38560	1.13	4.78	-1.53	0.08611	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26412	0.0645	L	0.31526	0.94	0.09310	N	1	B;B	0.17268	0.021;0.015	B;B	0.18263	0.021;0.014	T	0.26395	-1.0104	9	0.59425	D	0.04	.	4.3784	0.11281	0.3768:0.36:0.1914:0.0719	.	613;613	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	V	613	ENSP00000381636:A613V	ENSP00000381636:A613V	A	+	2	0	PCDHA11	140230710	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.458000	0.21892	-0.161000	0.10983	-0.224000	0.12420	GCG	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0	83	0	C	NM_018902		140250526	1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	67.07	26	55	SNP	0.000	T	T	140250526	C	T	140250526	3	4	177	1	0	0	0	0	1	0	0	0	11560	768	27	1	1840	1	PCDHA11	5	140250526	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	11265889	140250526	40664734	63	44072											
PCDHB6	56130	genome.wustl.edu	37	chr5	140531569	140531569	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgagctggtgccccgggcGgccgagccgggctacctggt	4	5	17	15	5	0	0	0	0	0	0	0	2	0	0	6	5	4	2	6	5	1	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:140531569G>A	ENST00000231136.1	+	1	1731	c.1731G>A	c.(1729-1731)gcG>gcA	p.A577A	PCDHB6_ENST00000543635.1_Silent_p.A441A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	577	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCCCGGGCGGCCGAGCCGG	0.697																																																	0													11	17	15					5																	140531569		1762	3721	5483	SO:0001819	synonymous_variant	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1731G>A	5.37:g.140531569G>A			B2R8R9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A577	ENST00000231136.1	37	c.1731	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	G	7.224	0.598012	0.13939	.	.	ENSG00000113211	ENST00000542861	.	.	.	4.19	-0.436	0.12275	.	.	.	.	.	T	0.57710	0.2072	.	.	.	0.43283	D	0.995254	.	.	.	.	.	.	T	0.57277	-0.7839	5	0.87932	D	0	.	4.2358	0.10625	0.0766:0.1277:0.4032:0.3926	.	.	.	.	Q	362	.	ENSP00000438850:R362Q	R	+	2	0	PCDHB6	140511753	.	.	0.983000	0.44433	0.928000	0.56348	.	.	-0.006000	0.14370	0.556000	0.70494	CGG	PCDHB6	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000113211		0.697	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	-	0	98	0	G	NM_018939		140531569	1	tier1	-	no_errors	ENST00000231136	ensembl	human	known	74_37	silent	61.11	21	33	SNP	0.064	A	A	140531569	G	A	140531569	2	1	177	1	0	0	0	0	0	0	0	1	11585	1103	39	1		1	PCDHB6	5	140531569	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	281043	140531569	40383691	64	44073											
GRIA1	2890	genome.wustl.edu	37	chr5	153078473	153078473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaacgccaatcagtttgaggGcaatgaccgttacgagggct	11	8	13	9	3	1	2	1	2	0	0	1	4	1	2	2	2	2	4	2	2	4	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:153078473G>A	ENST00000285900.5	+	10	1635	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	GRIA1_ENST00000518783.1_Missense_Mutation_p.G441D|GRIA1_ENST00000340592.5_Missense_Mutation_p.G431D|GRIA1_ENST00000521843.2_Missense_Mutation_p.G362D|GRIA1_ENST00000448073.4_Missense_Mutation_p.G441D|GRIA1_ENST00000518142.1_Missense_Mutation_p.G351D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	431					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.G431D(1)		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)	CAGTTTGAGGGCAATGACCGT	0.502																																																	1	Substitution - Missense(1)	large_intestine(1)											137	118	125					5																	153078473		2203	4300	6503	SO:0001583	missense	0				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.1292G>A	5.37:g.153078473G>A	ENSP00000285900:p.Gly431Asp		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G441D	ENST00000285900.5	37	c.1322	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.165560	0.94768	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.79940	1.04;1.04;-1.32;1.04;1.04;1.04;-1.32	5.25	5.25	0.73442	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.89364	0.6694	M	0.74467	2.265	0.80722	D	1	D;D;P;D;D;P	0.56287	0.975;0.975;0.947;0.975;0.968;0.525	P;P;D;P;P;B	0.71184	0.867;0.867;0.972;0.867;0.733;0.33	D	0.89968	0.4091	10	0.59425	D	0.04	.	17.8952	0.88886	0.0:0.0:1.0:0.0	.	441;441;351;441;431;431	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	D	431;431;351;385;431;362;362;441;441	ENSP00000285900:G431D;ENSP00000427920:G351D;ENSP00000339343:G431D;ENSP00000427864:G362D;ENSP00000442108:G362D;ENSP00000428994:G441D;ENSP00000415569:G441D	ENSP00000285900:G431D	G	+	2	0	GRIA1	153058666	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.784000	0.85713	2.473000	0.83533	0.650000	0.86243	GGC	GRIA1	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000155511		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3		0	53	0	G			153078473	1			no_errors	ENST00000448073	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	153078473	G	A	153078473	3	1	177	1	0	0	0	0	1	0	0	0	6794	1203	42	3	1330	3	GRIA1	5	153078473	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	12546904	153078473	27836787	65	44074											
AARS2	57505	genome.wustl.edu	37	chr6	44274691	44274691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccactacaggtaccaggctgCctaggaagccaggtggtgcc	9	6	13	13	0	0	0	0	0	0	0	0	1	0	1	5	5	5	2	5	5	4	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:44274691C>T	ENST00000244571.4	-	7	1120	c.1118G>A	c.(1117-1119)gGc>gAc	p.G373D	TMEM151B_ENST00000438774.2_Silent_p.C196C|RP11-444E17.6_ENST00000505802.1_Missense_Mutation_p.P109S	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)			TACCAGGCTGCCTAGGAAGCC	0.567																																																	0													93	86	89					6																	44274691		2203	4300	6503	SO:0001583	missense	0			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.1118G>A	6.37:g.44274691C>T	ENSP00000244571:p.Gly373Asp			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.G373D	ENST00000244571.4	37	c.1118	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784270	0.70222	.	.	ENSG00000124608	ENST00000244571	T	0.71579	-0.58	4.54	4.54	0.55810	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);	0.165784	0.52532	D	0.000076	T	0.56337	0.1978	L	0.39245	1.2	0.42055	D	0.991136	P	0.47841	0.901	P	0.47299	0.543	T	0.59836	-0.7379	10	0.41790	T	0.15	-18.218	12.0005	0.53228	0.0:0.6711:0.3289:0.0	.	373	Q5JTZ9	SYAM_HUMAN	D	373	ENSP00000244571:G373D	ENSP00000244571:G373D	G	-	2	0	AARS2	44382669	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.554000	0.73923	2.353000	0.79882	0.561000	0.74099	GGC	AARS2	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000124608		0.567	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2		0	60	0	C	NM_020745		44274691	-1			no_errors	ENST00000244571	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	44274691	C	T	44274691	3	4	177	1	0	0	0	0	1	0	0	0	20	739	26	3	1903	3	AARS2	6	44274691	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09		44274691	126840376	66	44075											
PRIM2	5558	genome.wustl.edu	37	chr6	57467133	57467133	+	3'UTR	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctttggaaaggaaggcaaGaggacagactatacaccttt	15	8	11	7	0	0	2	0	0	0	2	0	5	0	5	1	4	2	2	1	4	5	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:57467133G>C	ENST00000389488.2	+	0	1161				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGGAAGGCAAGAGGACAGACT	0.418																																																	0													135	126	129					6																	57467133		1991	4182	6173	SO:0001624	3_prime_UTR_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1158G>C	6.37:g.57467133G>C			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.418	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	-	0	114	0	G	NM_000947		57467133	1	tier1	-	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	8.00	138	12	SNP	1.000	C	C	57467133	G	C	57467133	1	2	177	0	1	0	0	0	0	0	0	0	12533	933	33	5		5	PRIM2	6	57467133	3'UTR	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	13192442	57467133	113647934	67	44076											
BAI3	577	genome.wustl.edu	37	chr6	69653782	69653782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcatttacatgtggtcgagGccaaagaacaagaacaaggt	15	9	10	7	1	1	2	1	0	0	2	2	3	1	2	1	3	3	0	1	3	6	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:69653782G>T	ENST00000370598.1	+	6	1912	c.1091G>T	c.(1090-1092)gGc>gTc	p.G364V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	364	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)				TGTGGTCGAGGCCAAAGAACA	0.443																																																	0													247	194	212					6																	69653782		2203	4300	6503	SO:0001583	missense	0			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.1091G>T	6.37:g.69653782G>T	ENSP00000359630:p.Gly364Val		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G364V	ENST00000370598.1	37	c.1091	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936010	0.92458	.	.	ENSG00000135298	ENST00000370598	D	0.83755	-1.76	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.95341	0.8488	H	0.99619	4.66	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.97418	1.0007	10	0.87932	D	0	.	18.8518	0.92235	0.0:0.0:1.0:0.0	.	364	O60242	BAI3_HUMAN	V	364	ENSP00000359630:G364V	ENSP00000359630:G364V	G	+	2	0	BAI3	69710503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.678000	0.91216	0.655000	0.94253	GGC	BAI3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000135298		0.443	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1		0	56	0	G			69653782	1			no_errors	ENST00000370598	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	69653782	G	T	69653782	3	4	177	1	0	0	0	0	1	0	0	0	1301	1203	42	3	1105	3	BAI3	6	69653782	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	12186649	69653782	101461285	68	44077											
ZBTB24	9841	genome.wustl.edu	37	chr6	109787701	109787701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcttgccagtgtgtaGaatgcagtgtctccttttgg	6	15	12	8	0	2	1	0	0	2	1	3	1	2	1	2	2	2	3	2	2	2	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:109787701G>T	ENST00000230122.3	-	7	1614	c.1447C>A	c.(1447-1449)Cta>Ata	p.L483I	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	483					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)		CCAGTGTGTAGAATGCAGTGT	0.423																																																	0													84	89	87					6																	109787701		2203	4300	6503	SO:0001583	missense	0			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.1447C>A	6.37:g.109787701G>T	ENSP00000230122:p.Leu483Ile		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L483I	ENST00000230122.3	37	c.1447	CCDS34509.1	6	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829239	0.32329	.	.	ENSG00000112365	ENST00000230122	T	0.17528	2.27	6.03	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.071637	0.64402	D	0.000016	T	0.01558	0.0050	N	0.05574	-0.02	0.23802	N	0.996805	B	0.18968	0.032	B	0.26202	0.067	T	0.46762	-0.9168	10	0.02654	T	1	-14.5559	4.0606	0.09837	0.3179:0.0:0.5127:0.1694	.	483	O43167	ZBT24_HUMAN	I	483	ENSP00000230122:L483I	ENSP00000230122:L483I	L	-	1	2	ZBTB24	109894394	1.000000	0.71417	0.712000	0.30502	0.897000	0.52465	3.576000	0.53878	0.847000	0.35167	0.655000	0.94253	CTA	ZBTB24	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000112365		0.423	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB24	HGNC	protein_coding	OTTHUMT00000041758.1	-	0	77	0	G	NM_014797		109787701	-1	tier1	-	no_errors	ENST00000230122	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.677	T	T	109787701	G	T	109787701	3	4	177	1	0	0	0	0	1	0	0	0	17579	933	33	3	650	3	ZBTB24	6	109787701	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	40133919	109787701	61327366	69	44078											
C6orf174	387104	genome.wustl.edu	37	chr6	127796461	127796461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcacggaaatgggctcctCggcgccgcggtcgtccgcag	6	6	14	15	7	1	0	1	0	0	0	5	1	3	1	3	4	0	2	3	4	1	0			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:127796461C>T	ENST00000525778.1	-	6	3455	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Missense_Mutation_p.E904K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E904K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E904K|SOGA3_ENST00000556132.1_Missense_Mutation_p.E904K			Q5TF21	SOGA3_HUMAN	SOGA family member 3	904					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ATGGGCTCCTCGGCGCCGCGG	0.672																																																	0													36	40	39					6																	127796461		2139	4249	6388	SO:0001583	missense	0			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.2710G>A	6.37:g.127796461C>T	ENSP00000434570:p.Glu904Lys			Missense_Mutation	SNP	pfam_SOGA	p.E904K	ENST00000525778.1	37	c.2710	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993285	0.74703	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.34667	1.35;1.35;1.35;1.38	5.73	5.73	0.89815	.	0.192335	0.53938	D	0.000043	T	0.14960	0.0361	L	0.27053	0.805	0.80722	D	1	P	0.49358	0.923	B	0.35655	0.207	T	0.02539	-1.1144	10	0.24483	T	0.36	-20.6273	19.9031	0.96996	0.0:1.0:0.0:0.0	.	904	Q5TF21	CF174_HUMAN	K	904	ENSP00000451768:E904K;ENSP00000357251:E904K;ENSP00000434570:E904K;ENSP00000435559:E904K	ENSP00000435559:E904K	E	-	1	0	C6orf174	127838154	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.770000	0.85390	2.710000	0.92621	0.561000	0.74099	GAG	SOGA3	-	NULL	ENSG00000214338		0.672	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	-	0	50	0	C	NM_001012279		127796461	-1	tier1	-	no_errors	ENST00000368268	ensembl	human	known	74_37	missense	33.90	39	20	SNP	1.000	T	T	127796461	C	T	127796461	3	4	177	1	0	0	0	0	1	0	0	0	2352	893	31	1	141	1	C6orf174	6	127796461	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	18008760	127796461	43318606	70	44079											
SHPRH	257218	genome.wustl.edu	37	chr6	146276380	146276380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttcattccttctgtcctCatgcatattccaatgaagct	9	15	6	11	0	3	1	2	1	1	0	6	1	6	1	3	1	2	3	3	1	3	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:146276380C>T	ENST00000367505.2	-	2	343	c.79G>A	c.(79-81)Gag>Aag	p.E27K	SHPRH_ENST00000367503.3_Missense_Mutation_p.E27K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E27K|SHPRH_ENST00000275233.7_Missense_Mutation_p.E27K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	27					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTCTGTCCTCATGCATATTC	0.458																																																	0													108	104	105					6																	146276380		1975	4177	6152	SO:0001583	missense	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.79G>A	6.37:g.146276380C>T	ENSP00000356475:p.Glu27Lys		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.E27K	ENST00000367505.2	37	c.79	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977324	0.92982	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.66	5.66	0.87406	.	0.070374	0.56097	D	0.000030	T	0.62913	0.2467	L	0.56769	1.78	0.58432	D	0.999999	D;P;P	0.55605	0.972;0.9;0.94	P;B;P	0.49708	0.616;0.416;0.62	T	0.66874	-0.5813	10	0.66056	D	0.02	-25.8208	19.7365	0.96208	0.0:1.0:0.0:0.0	.	27;27;27	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	K	27	ENSP00000356475:E27K;ENSP00000356473:E27K;ENSP00000412797:E27K;ENSP00000275233:E27K	ENSP00000275233:E27K	E	-	1	0	SHPRH	146318073	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.693000	0.68264	2.672000	0.90937	0.655000	0.94253	GAG	SHPRH	-	NULL	ENSG00000146414		0.458	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	-	0	27	0	C	NM_173082		146276380	-1	tier1	-	no_errors	ENST00000367503	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	T	T	146276380	C	T	146276380	3	4	177	1	0	0	0	0	1	0	0	0	14336	835	29	3	5132	3	SHPRH	6	146276380	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	18479919	146276380	24838687	71	44080											
SYNE1	23345	genome.wustl.edu	37	chr6	152728318	152728318	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctatccatgttttcttcaAgtttctctgatacctaggag	8	16	7	10	0	3	1	1	1	2	0	5	2	4	2	3	1	1	2	3	1	4	7			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:152728318A>C	ENST00000367255.5	-	45	7155	c.6554T>G	c.(6553-6555)cTt>cGt	p.L2185R	SYNE1_ENST00000423061.1_Missense_Mutation_p.L2192R|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2222R|SYNE1_ENST00000265368.4_Missense_Mutation_p.L2185R|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2192R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2185					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)		GTTTTCTTCAAGTTTCTCTGA	0.433										HNSCC(10;0.0054)																																							0													90	77	82					6																	152728318		2203	4300	6503	SO:0001583	missense	0			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.6554T>G	6.37:g.152728318A>C	ENSP00000356224:p.Leu2185Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L2185R	ENST00000367255.5	37	c.6554	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744784	0.30865	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.16	5.27	5.27	0.74061	.	0.224065	0.31519	N	0.007518	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	P;P;P;P	0.42123	0.771;0.472;0.661;0.606	B;B;B;B	0.43623	0.424;0.174;0.229;0.425	T	0.14531	-1.0469	10	0.72032	D	0.01	.	15.4903	0.75600	1.0:0.0:0.0:0.0	.	2168;2185;2185;2192	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	2185;2192;2185;2192;2222	ENSP00000356224:L2185R;ENSP00000396024:L2192R;ENSP00000265368:L2185R;ENSP00000390975:L2192R;ENSP00000341887:L2222R	ENSP00000265368:L2185R	L	-	2	0	SYNE1	152770011	0.983000	0.35010	0.652000	0.29579	0.426000	0.31534	5.231000	0.65327	2.135000	0.66039	0.379000	0.24179	CTT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	25	0	A	NM_182961		152728318	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.999	C	C	152728318	A	C	152728318	3	2	177	1	0	0	0	0	1	0	0	0	15492	72	3	4	20320	4	SYNE1	6	152728318	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	6451938	152728318	18386749	72	44081											
SDK1	221935	genome.wustl.edu	37	chr7	3681696	3681696	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccccagacctcaagtgacTtggtttagagaagggcacaa	13	8	10	10	0	1	3	1	1	0	2	1	4	1	3	3	2	1	2	3	2	5	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:3681696T>G	ENST00000404826.2	+	4	811	c.672T>G	c.(670-672)acT>acG	p.T224T	AC011284.3_ENST00000427920.1_RNA|SDK1_ENST00000389531.3_Silent_p.T224T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	224	Ig-like C2-type 2.				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)		CTCAAGTGACTTGGTTTAGAG	0.448																																																	0													104	93	97					7																	3681696		2203	4300	6503	SO:0001819	synonymous_variant	0			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.672T>G	7.37:g.3681696T>G			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T224	ENST00000404826.2	37	c.672	CCDS34590.1	7																																																																																			SDK1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2	ENSG00000146555		0.448	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	53	0	T	NM_152744		3681696	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	silent	39.06	39	25	SNP	0.324	G	G	3681696	T	G	3681696	2	3	177	1	0	0	0	0	0	0	0	1	14013	1596	56	4		4	SDK1	7	3681696	Silent	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09		3681696	155456967	73	44082											
TNRC18	84629	genome.wustl.edu	37	chr7	5410472	5410472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctccaccagtgtctcGggtgtcagctgcacccccag	5	9	11	16	1	2	0	1	0	1	0	4	0	3	0	5	2	2	2	5	2	0	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:5410472G>A	ENST00000430969.1	-	11	4101	c.3753C>T	c.(3751-3753)ccC>ccT	p.P1251P	TNRC18_ENST00000399537.4_Silent_p.P1251P	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1251							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)		CCAGTGTCTCGGGTGTCAGCT	0.697																																																	0													12	15	14					7																	5410472		1984	4170	6154	SO:0001819	synonymous_variant	0			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.3753C>T	7.37:g.5410472G>A			A8MX41|Q96JH1|Q96K91	Silent	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P1251	ENST00000430969.1	37	c.3753	CCDS47534.1	7																																																																																			TNRC18	-	NULL	ENSG00000182095		0.697	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		-	0	114	0	G			5410472	-1	tier1	-	no_errors	ENST00000399537	ensembl	human	known	74_37	silent	36.36	84	48	SNP	0.000	A	A	5410472	G	A	5410472	2	1	177	1	0	0	0	0	0	0	0	1	16386	1103	39	1		1	TNRC18	7	5410472	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	1728776	5410472	153728191	74	44083											
KLHL7	55975	genome.wustl.edu	37	chr7	23183545	23183545	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatggttgatatccttgctAaagtcaggtttcctcttata	9	18	7	7	0	2	1	1	1	1	0	4	1	4	1	2	2	1	3	2	2	6	8			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:23183545A>G	ENST00000339077.5	+	6	937	c.694A>G	c.(694-696)Aaa>Gaa	p.K232E	KLHL7_ENST00000539124.1_Missense_Mutation_p.K156E|KLHL7_ENST00000545443.1_Missense_Mutation_p.K210E|KLHL7_ENST00000542558.1_Missense_Mutation_p.K7E|KLHL7_ENST00000409689.1_Missense_Mutation_p.K184E|KLHL7_ENST00000322231.7_Missense_Mutation_p.K210E	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	232	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATCCTTGCTAAAGTCAGGTT	0.388																																																	0													175	165	168					7																	23183545		2203	4300	6503	SO:0001583	missense	0				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.694A>G	7.37:g.23183545A>G	ENSP00000343273:p.Lys232Glu		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.K232E	ENST00000339077.5	37	c.694	CCDS34609.1	7	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414659	0.62511	.	.	ENSG00000122550	ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.72282	-0.38;-0.38;-0.38;-0.64;-0.38;-0.38	5.43	5.43	0.79202	BTB/Kelch-associated (2);	0.130066	0.64402	D	0.000002	T	0.63094	0.2482	L	0.39566	1.225	0.46631	D	0.999133	B;P;B	0.37914	0.281;0.611;0.358	B;B;B	0.37015	0.038;0.239;0.107	T	0.62058	-0.6934	9	.	.	.	.	15.756	0.78025	1.0:0.0:0.0:0.0	.	7;232;210	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	E	198;210;232;156;7;184;210	ENSP00000322958:K210E;ENSP00000343273:K232E;ENSP00000441136:K156E;ENSP00000442367:K7E;ENSP00000386263:K184E;ENSP00000442366:K210E	.	K	+	1	0	KLHL7	23150070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.357000	0.73051	2.177000	0.69029	0.482000	0.46254	AAA	KLHL7	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000122550		0.388	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL7	HGNC	protein_coding	OTTHUMT00000326860.3	-	0	83	0	A	NM_018846		23183545	1	tier1	-	no_errors	ENST00000339077	ensembl	human	known	74_37	missense	6.19	106	7	SNP	1.000	G	G	23183545	A	G	23183545	3	3	177	1	0	0	0	0	1	0	0	0	8421	363	13	4	779	4	KLHL7	7	23183545	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	17773073	23183545	135955118	75	44084											
SLC26A5	375611	genome.wustl.edu	37	chr7	103033487	103033487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacaaggtggaagaggctgGtgtccggattggctggaggt	9	8	18	6	1	0	1	0	0	0	1	1	4	1	4	1	8	0	2	1	8	2	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:103033487G>T	ENST00000306312.3	-	10	1259	c.998C>A	c.(997-999)aCc>aAc	p.T333N	SLC26A5_ENST00000339444.6_Missense_Mutation_p.T333N|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.T333N|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.T333N|SLC26A5_ENST00000393730.1_Missense_Mutation_p.T333N|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T296N|SLC26A5_ENST00000393735.2_Missense_Mutation_p.T333N|SLC26A5_ENST00000393723.1_Missense_Mutation_p.T333N	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	333					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						GAAGAGGCTGGTGTCCGGATT	0.483																																																	0													147	114	125					7																	103033487		2203	4300	6503	SO:0001583	missense	0			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.998C>A	7.37:g.103033487G>T	ENSP00000304783:p.Thr333Asn		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.T333N	ENST00000306312.3	37	c.998	CCDS5733.1	7	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513636	0.44763	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.6	5.6	0.85130	Sulphate transporter (1);	0.198667	0.52532	D	0.000073	D	0.84710	0.5532	N	0.24115	0.695	0.80722	D	1	B;P;B;P	0.39665	0.038;0.601;0.261;0.682	B;B;B;B	0.37833	0.063;0.259;0.076;0.168	D	0.84188	0.0443	10	0.54805	T	0.06	.	7.713	0.28688	0.1986:0.0:0.8014:0.0	.	333;333;333;333	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	N	333;333;333;333;333;296;333;333	ENSP00000342396:T333N;ENSP00000377336:T333N;ENSP00000304783:T333N;ENSP00000377331:T333N;ENSP00000389733:T333N;ENSP00000377330:T296N;ENSP00000377328:T333N;ENSP00000377324:T333N	ENSP00000304783:T333N	T	-	2	0	SLC26A5	102820723	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.680000	0.74518	2.638000	0.89438	0.561000	0.74099	ACC	SLC26A5	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000170615		0.483	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A5	HGNC	protein_coding	OTTHUMT00000313860.1	-	0	42	0	G	NM_198999		103033487	-1	tier1	-	no_errors	ENST00000306312	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.998	T	T	103033487	G	T	103033487	3	4	177	1	0	0	0	0	1	0	0	0	14565	1261	44	3	1321	3	SLC26A5	7	103033487	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	79849942	103033487	56105176	76	44085											
NRCAM	4897	genome.wustl.edu	37	chr7	107790554	107790554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtcctgtctgaaggagttCgacttccttttttcaaaggc	8	14	9	10	1	2	1	1	1	1	0	5	3	4	2	2	2	0	1	2	2	2	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:107790554C>T	ENST00000425651.2	-	30	3715	c.3716G>A	c.(3715-3717)cGa>cAa	p.R1239Q	NRCAM_ENST00000351718.4_Missense_Mutation_p.R1118Q|NRCAM_ENST00000379024.4_Missense_Mutation_p.R1127Q|NRCAM_ENST00000379028.3_Missense_Mutation_p.R1239Q|NRCAM_ENST00000413765.2_Missense_Mutation_p.R1115Q|NRCAM_ENST00000522550.2_5'UTR	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1239					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						TGAAGGAGTTCGACTTCCTTT	0.398																																																	0													196	181	187					7																	107790554		2203	4300	6503	SO:0001583	missense	0				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.3716G>A	7.37:g.107790554C>T	ENSP00000401244:p.Arg1239Gln		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1239Q	ENST00000425651.2	37	c.3716	CCDS47686.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.98|15.98	2.993614|2.993614	0.54041|0.54041	.|.	.|.	ENSG00000091129|ENSG00000091129	ENST00000445634|ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000437386;ENST00000351718;ENST00000379024;ENST00000425651	.|D;D;D;D;D	.|0.84730	.|-1.89;-1.89;-1.89;-1.89;-1.89	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79476|0.79476	0.4452|0.4452	N|N	0.01649|0.01649	-0.78|-0.78	0.80722|0.80722	D|D	1|1	.|P;B;D;P;P;B;D	.|0.63880	.|0.729;0.002;0.983;0.528;0.472;0.447;0.993	.|B;B;P;B;B;B;P	.|0.60415	.|0.117;0.007;0.874;0.131;0.08;0.047;0.68	T|T	0.79497|0.79497	-0.1779|-0.1779	5|10	.|0.15499	.|T	.|0.54	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1243;85;1115;1127;1118;1239;22	.|Q92823-5;B4DFP9;Q92823-3;E9PDA4;Q92823-4;Q92823;Q6QRP2	.|.;.;.;.;.;NRCAM_HUMAN;.	K|Q	138|1243;1239;1115;1146;83;1118;1127;1239	.|ENSP00000368314:R1239Q;ENSP00000407858:R1115Q;ENSP00000325269:R1118Q;ENSP00000368310:R1127Q;ENSP00000401244:R1239Q	.|ENSP00000325269:R1118Q	E|R	-|-	1|2	0|0	NRCAM|NRCAM	107577790|107577790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.089000|6.089000	0.71384|0.71384	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|CGA	NRCAM	-	NULL	ENSG00000091129		0.398	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	-	0	52	0	C	NM_001037132		107790554	-1	tier1	-	no_errors	ENST00000379028	ensembl	human	known	74_37	missense	29.76	59	25	SNP	1.000	T	T	107790554	C	T	107790554	3	4	177	1	0	0	0	0	1	0	0	0	10683	884	31	1	202	1	NRCAM	7	107790554	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	4757067	107790554	51348109	77	44086											
OPN1SW	611	genome.wustl.edu	37	chr7	128414669	128414669	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggtatttggtgcccacGgtgtaccagtcagggccaca	7	9	13	12	2	1	0	1	0	0	0	1	0	1	0	3	4	3	2	3	4	2	3	rs367950991		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:128414669G>T	ENST00000249389.2	-	3	569	c.570C>A	c.(568-570)acC>acA	p.T190T		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	190					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						TGGTGCCCACGGTGTACCAGT	0.552																																																	0													124	98	107					7																	128414669		2203	4300	6503	SO:0001819	synonymous_variant	0			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.570C>A	7.37:g.128414669G>T			Q13877	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin	p.T190	ENST00000249389.2	37	c.570	CCDS5806.1	7																																																																																			OPN1SW	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue	ENSG00000128617		0.552	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1SW	HGNC	protein_coding	OTTHUMT00000350655.1		0	34	0	G	NM_001708		128414669	-1			no_errors	ENST00000249389	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.905	T	T	128414669	G	T	128414669	2	4	177	1	0	0	0	0	0	0	0	1	10919	1103	39	2		2	OPN1SW	7	128414669	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	20624115	128414669	30723994	78	44087											
FAM40B	57464	genome.wustl.edu	37	chr7	129122851	129122851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccatttaccagaaagtgCgtcaccgcatgaacgatgac	13	7	9	12	3	1	3	1	2	0	1	1	4	1	3	3	0	4	1	3	0	3	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:129122851C>T	ENST00000249344.2	+	20	2258	c.2218C>T	c.(2218-2220)Cgt>Tgt	p.R740C	STRIP2_ENST00000435494.2_Missense_Mutation_p.R740C|RNU1-72P_ENST00000362976.1_RNA	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	740					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.R740C(1)									CCAGAAAGTGCGTCACCGCAT	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)											92	77	82					7																	129122851		2203	4300	6503	SO:0001583	missense	0			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2218C>T	7.37:g.129122851C>T	ENSP00000249344:p.Arg740Cys		Q8WUZ4	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.R740C	ENST00000249344.2	37	c.2218	CCDS34752.1	7	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174252	0.78452	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.60424	0.19;0.19	5.32	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.80374	0.4611	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.85779	0.1360	10	0.87932	D	0	-16.371	14.0067	0.64468	0.2694:0.7306:0.0:0.0	.	740;740	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	C	740	ENSP00000249344:R740C;ENSP00000392393:R740C	ENSP00000249344:R740C	R	+	1	0	FAM40B	128910087	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.864000	0.56024	1.361000	0.45981	0.655000	0.94253	CGT	STRIP2	-	pfam_DUF3402	ENSG00000128578		0.448	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP2	HGNC	protein_coding	OTTHUMT00000349418.1	-	0	67	0	C	NM_001134336		129122851	1	tier1	-	no_errors	ENST00000249344	ensembl	human	known	74_37	missense	36.00	48	27	SNP	1.000	T	T	129122851	C	T	129122851	3	4	177	1	0	0	0	0	1	0	0	0	5583	768	27	1	2296	1	FAM40B	7	129122851	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	708182	129122851	30015812	79	44088											
CHRM2	1129	genome.wustl.edu	37	chr7	136700655	136700655	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taccaccgtggaggtagtggGgtcttcaggtcagaatggag	9	9	16	7	1	3	1	2	0	1	1	3	3	3	3	2	6	1	1	2	6	3	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:136700655G>C	ENST00000445907.2	+	3	1571	c.1043G>C	c.(1042-1044)gGg>gCg	p.G348A	CHRM2_ENST00000402486.3_Missense_Mutation_p.G348A|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.G348A|CHRM2_ENST00000320658.5_Missense_Mutation_p.G348A|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.G348A|CHRM2_ENST00000401861.1_Missense_Mutation_p.G348A|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	348					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|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)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GAGGTAGTGGGGTCTTCAGGT	0.468																																																	0													83	83	83					7																	136700655		2203	4300	6503	SO:0001583	missense	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1043G>C	7.37:g.136700655G>C	ENSP00000399745:p.Gly348Ala		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.G348A	ENST00000445907.2	37	c.1043	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	G	0.892	-0.725127	0.03158	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	5.4	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.313933	0.33792	N	0.004558	T	0.41994	0.1183	N	0.22421	0.69	0.44395	D	0.997308	B	0.02656	0.0	B	0.06405	0.002	T	0.26643	-1.0097	10	0.09590	T	0.72	-16.1854	16.0564	0.80809	0.0:0.1344:0.8656:0.0	.	348	P08172	ACM2_HUMAN	A	348	ENSP00000399745:G348A;ENSP00000415386:G348A;ENSP00000319984:G348A;ENSP00000380733:G348A;ENSP00000384937:G348A;ENSP00000384401:G348A	ENSP00000319984:G348A	G	+	2	0	CHRM2	136351195	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	3.932000	0.56537	1.263000	0.44181	0.655000	0.94253	GGG	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt	ENSG00000181072		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0	58	0	G			136700655	1	tier1	-	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.999	C	C	136700655	G	C	136700655	3	2	177	1	0	0	0	0	1	0	0	0	3384	1232	43	5	1045	5	CHRM2	7	136700655	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	7577804	136700655	22438008	80	44089											
CSMD1	64478	genome.wustl.edu	37	chr8	2876172	2876172	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggcttccacacgagataActagaaggaaaaacaataaa	22	5	7	7	1	0	2	0	0	0	2	1	4	1	3	1	2	2	1	1	2	9	4	rs201262421		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr8:2876172A>C	ENST00000520002.1	-	53	8414	c.7859T>G	c.(7858-7860)gTt>gGt	p.V2620G	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Splice_Site_p.V2619G|CSMD1_ENST00000602557.1_Splice_Site_p.V2620G|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2620	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACGAGATAACTAGAAGGAA	0.383																																																	0													91	88	89					8																	2876172		1869	4104	5973	SO:0001630	splice_region_variant	0					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.7859-1T>G	8.37:g.2876172A>C			Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.V2620G	ENST00000520002.1	37	c.7859		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.22|16.22	3.061145|3.061145	0.55432|0.55432	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000520002;ENST00000318252;ENST00000537824	.|T;T	.|0.25085	.|1.82;1.82	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Complement control module (2);Sushi/SCR/CCP (1);	.|0.175896	.|0.37261	.|N	.|0.002179	T|T	0.38957|0.38957	0.1060|0.1060	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	.|D;P	.|0.55385	.|0.971;0.754	.|P;B	.|0.47299	.|0.543;0.397	T|T	0.44143|0.44143	-0.9347|-0.9347	5|10	.|0.16420	.|T	.|0.52	.|.	14.9954|14.9954	0.71428|0.71428	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2620;2620	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	R|G	2036|2620;2481;2619	.|ENSP00000430733:V2620G;ENSP00000441462:V2619G	.|ENSP00000320445:V2481G	S|V	-|-	3|2	2|0	CSMD1|CSMD1	2863579|2863579	1.000000|1.000000	0.71417|0.71417	0.653000|0.653000	0.29593|0.29593	0.300000|0.300000	0.27592|0.27592	9.036000|9.036000	0.93758|0.93758	2.001000|2.001000	0.58596|0.58596	0.533000|0.533000	0.62120|0.62120	AGT|GTT	CSMD1	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	69	0	A	NM_033225	Missense_Mutation	2876172	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	19.77	69	17	SNP	0.998	C	C	2876172	A	C	2876172	5	2	177	1	0	0	0	0	0	0	1	0	3953	57	2	4	2914	4	CSMD1	8	2876172	Splice_Site	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09		2876172	143487850	81	44090											
TRIM35	23087	genome.wustl.edu	37	chr8	27145471	27145471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagccccccaagggccaCctcccaggcgtgcgagccct	6	4	11	20	2	0	0	0	0	0	0	1	1	1	0	7	2	4	1	7	2	1	0			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr8:27145471C>T	ENST00000305364.4	-	6	1161	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	360	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCAAGGGCCACCTCCCAGGCG	0.692																																																	0													26	27	27					8																	27145471		2193	4287	6480	SO:0001583	missense	0			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16285	protein-coding gene	gene with protein product			"tripartite motif-containing 35"			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1078G>A	8.37:g.27145471C>T	ENSP00000301924:p.Val360Met		Q86XQ0|Q8WVA4	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V360M	ENST00000305364.4	37	c.1078	CCDS6056.2	8	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529536	0.85706	.	.	ENSG00000104228	ENST00000305364;ENST00000380544	T	0.76839	-1.05	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000013	D	0.90748	0.7096	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92783	0.6242	10	0.87932	D	0	.	14.7176	0.69280	0.0:1.0:0.0:0.0	.	360	Q9UPQ4	TRI35_HUMAN	M	360	ENSP00000301924:V360M	ENSP00000301924:V360M	V	-	1	0	TRIM35	27201388	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.929000	0.75852	2.544000	0.85801	0.313000	0.20887	GTG	TRIM35	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000104228		0.692	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2	-	0	41	0	C	NM_171982		27145471	-1	tier1	-	no_errors	ENST00000305364	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	27145471	C	T	27145471	3	4	177	1	0	0	0	0	1	0	0	0	16557	507	18	3	407	3	TRIM35	8	27145471	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	24269299	27145471	119218551	82	44091											
PREX2	80243	genome.wustl.edu	37	chr8	69021832	69021832	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagactgcactgaaagaggtGgagatgtgtgtttgtcaaat	12	11	13	5	0	1	4	1	1	0	3	1	5	1	4	0	2	1	2	0	2	2	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr8:69021832G>T	ENST00000288368.4	+	25	3397	c.3120G>T	c.(3118-3120)gtG>gtT	p.V1040V		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	1040					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)	p.V1040V(1)		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						TGAAAGAGGTGGAGATGTGTG	0.368																																																	1	Substitution - coding silent(1)	endometrium(1)											123	121	122					8																	69021832		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3120G>T	8.37:g.69021832G>T			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V1040	ENST00000288368.4	37	c.3120	CCDS6201.1	8																																																																																			PREX2	-	NULL	ENSG00000046889		0.368	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1		0	43	0	G	NM_025170		69021832	1			no_errors	ENST00000288368	ensembl	human	known	74_37	silent	8.11	34	3	SNP	1.000	T	T	69021832	G	T	69021832	2	4	177	1	0	0	0	0	0	0	0	1	12519	1335	47	3		3	PREX2	8	69021832	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	41876361	69021832	77342190	83	44092											
DENND1A	57706	genome.wustl.edu	37	chr9	126144356	126144356	+	Silent	SNP	G	G	A	0	0	1	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	gggcgtgacgggagggtgctGcctgaccaggctgtgctgag	5	7	20	9	2	0	3	0	3	0	0	0	4	0	4	2	4	3	3	2	4	0	0			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr9:126144356G>A	ENST00000373624.2	-	22	2586	c.2385C>T	c.(2383-2385)ggC>ggT	p.G795G	DENND1A_ENST00000394219.3_Silent_p.G806G|DENND1A_ENST00000542603.1_Silent_p.G580G|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	795	Pro-rich.				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						GGAGGGTGCTGCCTGACCAGG	0.697																																																	0													8	13	11					9																	126144356		2172	4262	6434	SO:0001819	synonymous_variant	0			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.2385C>T	9.37:g.126144356G>A			A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G806	ENST00000373624.2	37	c.2418	CCDS35133.1	9																																																																																			DENND1A	-	NULL	ENSG00000119522		0.697	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1		0	12	0	G	NM_024820		126144356	-1			no_errors	ENST00000394219	ensembl	human	known	74_37	silent	66.67	1	2	SNP	0.541	A	A	126144356	G	A	126144356	2	1	177	1	0	0	0	0	0	0	0	1	4440	1306	46	3		3	DENND1A	9	126144356	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		126144356	15069075	84	44093											
FIBCD1	84929	genome.wustl.edu	37	chr9	133779538	133779538	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggaccactccacgccGtcggcataggaggcgtgcgc	8	4	15	14	5	0	0	0	0	0	0	2	3	1	3	3	5	1	1	3	5	1	1	rs371058676		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr9:133779538G>A	ENST00000372338.4	-	7	1541	c.1299C>T	c.(1297-1299)gaC>gaT	p.D433D	FIBCD1_ENST00000448616.1_Silent_p.D433D|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.D275D	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	433	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		ACTCCACGCCGTCGGCATAGG	0.637																																																	0								G	,	0,4406		0,0,2203	107	94	99		1299,1299	-1.2	1	9		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FIBCD1	NM_001145106.1,NM_032843.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	433/462,433/462	133779538	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1299C>T	9.37:g.133779538G>A			A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.D433	ENST00000372338.4	37	c.1299	CCDS6937.1	9																																																																																			FIBCD1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000130720		0.637	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIBCD1	HGNC	protein_coding	OTTHUMT00000054687.2	-	0	31	0	G	NM_032843		133779538	-1	tier1	-	no_errors	ENST00000372338	ensembl	human	known	74_37	silent	17.50	33	7	SNP	1.000	A	A	133779538	G	A	133779538	2	1	177	1	0	0	0	0	0	0	0	1	5906	1136	40	1		1	FIBCD1	9	133779538	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	7635182	133779538	7433893	85	44094											
GTF3C5	9328	genome.wustl.edu	37	chr9	135933335	135933335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccgacggcagtgaaaacGaaatggagacagagattctg	15	6	12	8	3	1	3	0	1	1	2	2	7	2	3	1	2	1	1	1	2	3	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr9:135933335G>A	ENST00000372097.5	+	11	1851	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	GTF3C5_ENST00000372108.5_Missense_Mutation_p.E517K|GTF3C5_ENST00000342018.8_Missense_Mutation_p.E448K|GTF3C5_ENST00000372099.6_Missense_Mutation_p.E501K	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	510	Glu-rich.				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)		CAGTGAAAACGAAATGGAGAC	0.592																																																	0													116	98	104					9																	135933335		2203	4300	6503	SO:0001583	missense	0			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.1528G>A	9.37:g.135933335G>A	ENSP00000361169:p.Glu510Lys		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	pfam_TF_IIIC_su-5	p.E517K	ENST00000372097.5	37	c.1549	CCDS6958.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.400683	0.96030	.	.	ENSG00000148308	ENST00000372097;ENST00000372099;ENST00000372108;ENST00000342018	T;T;T;T	0.51071	0.81;0.8;0.81;0.72	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.74565	-0.3623	10	0.72032	D	0.01	-11.6793	17.9727	0.89118	0.0:0.0:1.0:0.0	.	517;510	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	K	510;501;517;448	ENSP00000361169:E510K;ENSP00000361171:E501K;ENSP00000361180:E517K;ENSP00000339530:E448K	ENSP00000339530:E448K	E	+	1	0	GTF3C5	134923156	1.000000	0.71417	0.952000	0.39060	0.801000	0.45260	9.685000	0.98661	2.484000	0.83849	0.491000	0.48974	GAA	GTF3C5	-	NULL	ENSG00000148308		0.592	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1	-	0	17	0	G	NM_001122823		135933335	1	tier1	-	no_errors	ENST00000372108	ensembl	human	known	74_37	missense	61.54	5	8	SNP	1.000	A	A	135933335	G	A	135933335	3	1	177	1	0	0	0	0	1	0	0	0	6903	1059	37	1	1595	1	GTF3C5	9	135933335	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	2153797	135933335	5280096	86	44095											
LRRC18	474354	genome.wustl.edu	37	chr10	50121955	50121955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcttgtctatgtagttGctgtgcaggtccagccaccg	6	11	13	11	1	1	0	0	0	1	0	2	0	2	0	3	2	4	6	3	2	2	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:50121955G>T	ENST00000374160.3	-	1	322	c.246C>A	c.(244-246)agC>agA	p.S82R	WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.S82R|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	82						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTATGTAGTTGCTGTGCAGGT	0.562																																																	0													93	78	83					10																	50121955		2203	4300	6503	SO:0001583	missense	0			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.246C>A	10.37:g.50121955G>T	ENSP00000363275:p.Ser82Arg		Q6UY02	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S82R	ENST00000374160.3	37	c.246	CCDS31197.1	10	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760855	0.69763	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.48201	0.82;0.82	6.07	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	L	0.45470	1.425	0.51767	D	0.999938	D	0.89917	1.0	D	0.91635	0.999	T	0.53085	-0.8488	9	.	.	.	.	10.1872	0.43004	0.2501:0.0:0.7499:0.0	.	82	Q8N456	LRC18_HUMAN	R	82	ENSP00000363275:S82R;ENSP00000298124:S82R	.	S	-	3	2	LRRC18	49791961	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.771000	0.47670	0.643000	0.30638	0.655000	0.94253	AGC	LRRC18	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000165383		0.562	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC18	HGNC	protein_coding	OTTHUMT00000047964.1	-	0	28	0	G	NM_001006939		50121955	-1	tier1	-	no_errors	ENST00000374160	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	50121955	G	T	50121955	3	4	177	1	0	0	0	0	1	0	0	0	9009	1310	46	3	547	3	LRRC18	10	50121955	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		50121955	85412792	87	44096											
DDX50	79009	genome.wustl.edu	37	chr10	70673227	70673227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctgcagagtggccgattgGatctttctaaactgcgacat	10	12	10	9	2	3	1	0	0	3	1	3	4	3	2	1	2	3	1	1	2	2	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:70673227G>A	ENST00000373585.3	+	6	945	c.838G>A	c.(838-840)Gat>Aat	p.D280N	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	280	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					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						TGGCCGATTGGATCTTTCTAA	0.393																																																	0													163	153	156					10																	70673227		2203	4300	6503	SO:0001583	missense	0			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.838G>A	10.37:g.70673227G>A	ENSP00000362687:p.Asp280Asn		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D280N	ENST00000373585.3	37	c.838	CCDS7283.1	10	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040264	0.55003	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.13196	2.61	5.09	5.09	0.68999	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.142165	0.64402	D	0.000007	T	0.09730	0.0239	N	0.10945	0.07	0.46927	D	0.999258	B;B	0.27594	0.182;0.055	B;B	0.29440	0.102;0.058	T	0.27839	-1.0062	10	0.38643	T	0.18	-15.8188	17.0308	0.86460	0.0:0.0:1.0:0.0	.	280;280	Q9BQ39;B4DED6	DDX50_HUMAN;.	N	280	ENSP00000362687:D280N	ENSP00000362687:D280N	D	+	1	0	DDX50	70343233	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.078000	0.71282	2.530000	0.85305	0.462000	0.41574	GAT	DDX50	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000107625		0.393	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	-	0	65	0	G	NM_024045		70673227	1	tier1	-	no_errors	ENST00000373585	ensembl	human	known	74_37	missense	31.17	53	24	SNP	1.000	A	A	70673227	G	A	70673227	3	1	177	1	0	0	0	0	1	0	0	0	4377	1174	41	3	860	3	DDX50	10	70673227	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	20551272	70673227	64861520	88	44097											
HTR7	3363	genome.wustl.edu	37	chr10	92508753	92508753	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggcatatataaaagggtTaatgagagagtttgcatagc	16	10	12	3	0	0	2	0	1	0	1	0	4	0	2	0	2	2	4	0	2	7	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:92508753T>A	ENST00000336152.3	-	2	1164	c.1138A>T	c.(1138-1140)Aac>Tac	p.N380Y	HTR7_ENST00000371719.2_Missense_Mutation_p.N380Y|HTR7_ENST00000371721.3_Missense_Mutation_p.N380Y|HTR7_ENST00000277874.6_Missense_Mutation_p.N380Y	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	380					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ATAAAAGGGTTAATGAGAGAG	0.537																																																	0													136	140	138					10																	92508753		2203	4300	6503	SO:0001583	missense	0			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1138A>T	10.37:g.92508753T>A	ENSP00000337949:p.Asn380Tyr		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.N380Y	ENST00000336152.3	37	c.1138	CCDS7408.1	10	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310982	0.81358	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95076	0.8405	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.96701	0.9518	10	0.87932	D	0	.	15.6513	0.77095	0.0:0.0:0.0:1.0	.	380;380	P34969;P34969-2	5HT7R_HUMAN;.	Y	380	ENSP00000337949:N380Y;ENSP00000277874:N380Y;ENSP00000360784:N380Y;ENSP00000360786:N380Y	ENSP00000277874:N380Y	N	-	1	0	HTR7	92498733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.095000	0.63458	0.528000	0.53228	AAC	HTR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	ENSG00000148680		0.537	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	HGNC	protein_coding	OTTHUMT00000049343.1	-	0	55	0	T	NM_000872		92508753	-1	tier1	-	no_errors	ENST00000336152	ensembl	human	known	74_37	missense	39.44	43	28	SNP	1.000	A	A	92508753	T	A	92508753	3	1	177	1	0	0	0	0	1	0	0	0	7479	1754	61	5	317	5	HTR7	10	92508753	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	21835526	92508753	43025994	89	44098											
VWA2	340706	genome.wustl.edu	37	chr10	116048899	116048899	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggacaccaaacccacccgGgctgcgatgctgcgggccat	8	5	12	16	3	0	0	0	0	0	0	0	2	0	1	4	3	4	2	4	3	1	0			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:116048899G>A	ENST00000392982.3	+	12	2023	c.1773G>A	c.(1771-1773)cgG>cgA	p.R591R	VWA2_ENST00000603594.1_Silent_p.R591R			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	591	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AACCCACCCGGGCTGCGATGC	0.642																																																	0													41	37	38					10																	116048899		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1773G>A	10.37:g.116048899G>A			A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.R591	ENST00000392982.3	37	c.1773		10																																																																																			VWA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000165816		0.642	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	-	0	34	0	G	NM_198496		116048899	1	tier1	-	no_errors	ENST00000392982	ensembl	human	known	74_37	silent	25.00	27	9	SNP	0.001	A	A	116048899	G	A	116048899	2	1	177	1	0	0	0	0	0	0	0	1	17288	1219	43	3		3	VWA2	10	116048899	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	23540146	116048899	19485848	90	44099											
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118236283	118236283	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgaagattctcagaataAgttgggagcagaaatggtga	14	11	13	3	0	1	5	1	2	1	3	2	6	1	6	0	2	1	3	0	2	4	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:118236283A>C	ENST00000369230.3	+	11	1438	c.1292A>C	c.(1291-1293)aAg>aCg	p.K431T		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	431	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCTCAGAATAAGTTGGGAGCA	0.303																																																	0													95	99	97					10																	118236283		2203	4300	6503	SO:0001583	missense	0			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1292A>C	10.37:g.118236283A>C	ENSP00000358232:p.Lys431Thr			Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.K431T	ENST00000369230.3	37	c.1292	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356734	0.24598	.	.	ENSG00000203837	ENST00000369230	T	0.65549	-0.16	4.13	1.42	0.22433	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.581864	0.14711	N	0.302929	T	0.47192	0.1432	L	0.33137	0.985	0.21064	N	0.999796	P	0.37370	0.592	B	0.37091	0.241	T	0.28267	-1.0049	10	0.33141	T	0.24	.	8.7727	0.34742	0.6344:0.3656:0.0:0.0	.	431	Q17RR3	LIPR3_HUMAN	T	431	ENSP00000358232:K431T	ENSP00000358232:K431T	K	+	2	0	PNLIPRP3	118226273	0.572000	0.26668	0.480000	0.27341	0.476000	0.33039	0.250000	0.18235	0.670000	0.31165	0.533000	0.62120	AAG	PNLIPRP3	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH	ENSG00000203837		0.303	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	-	0	127	0	A	XM_058404		118236283	1	tier1	-	no_errors	ENST00000369230	ensembl	human	known	74_37	missense	33.72	114	58	SNP	0.620	C	C	118236283	A	C	118236283	3	2	177	1	0	0	0	0	1	0	0	0	12191	72	3	4	1334	4	PNLIPRP3	10	118236283	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	2187384	118236283	17298464	91	44100											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133948604	133948604	+	Missense_Mutation	SNP	T	T	A	0	1	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	cttaaaatcgcggagttaagTgcgattatccgcaaactgga	13	10	10	8	4	0	0	0	0	0	0	2	3	1	2	1	2	2	2	1	2	5	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:133948604T>A	ENST00000298622.4	+	4	1047	c.909T>A	c.(907-909)agT>agA	p.S303R		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	303						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)		CGGAGTTAAGTGCGATTATCC	0.522																																																	0													67	68	68					10																	133948604		1878	4094	5972	SO:0001583	missense	0			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.909T>A	10.37:g.133948604T>A	ENSP00000298622:p.Ser303Arg		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.S303R	ENST00000298622.4	37	c.909	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116385	0.37339	.	.	ENSG00000188385	ENST00000298622	T	0.24908	1.83	4.2	-2.01	0.07410	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	L	0.53249	1.67	0.36818	D	0.88623	D	0.89917	1.0	D	0.85130	0.997	T	0.31223	-0.9951	10	0.21014	T	0.42	-13.2351	10.9243	0.47182	0.0:0.4362:0.0:0.5638	.	303	Q5VZ66	JKIP3_HUMAN	R	303	ENSP00000298622:S303R	ENSP00000298622:S303R	S	+	3	2	JAKMIP3	133798594	0.007000	0.16637	0.314000	0.25224	0.080000	0.17528	-1.163000	0.03138	-0.281000	0.09141	-0.297000	0.09499	AGT	JAKMIP3	-	NULL	ENSG00000188385		0.522	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	-	0	74	0	T	NM_194303		133948604	1	tier1	-	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	35.34	74	41	SNP	0.962	A	A	133948604	T	A	133948604	3	1	177	1	0	0	0	0	1	0	0	0	7969	1693	59	5	923	5	JAKMIP3	10	133948604	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	15712321	133948604	1586143	92	44101											
LRRC56	115399	genome.wustl.edu	37	chr11	550191	550191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcaggtgcgctacttGcagctgtgcccacgcctggc	4	8	15	14	2	0	0	0	0	0	0	0	0	0	0	2	4	5	4	2	4	1	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:550191G>T	ENST00000270115.7	+	8	1043	c.543G>T	c.(541-543)ttG>ttT	p.L181F		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	181										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCGCTACTTGCAGCTGTGCC	0.662																																																	0													76	70	72					11																	550191		2202	4300	6502	SO:0001583	missense	0				CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.543G>T	11.37:g.550191G>T	ENSP00000270115:p.Leu181Phe		Q8N3Q4	Missense_Mutation	SNP	NULL	p.L181F	ENST00000270115.7	37	c.543	CCDS7700.1	11	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162644	0.38217	.	.	ENSG00000161328	ENST00000270115	T	0.33654	1.4	4.58	3.65	0.41850	.	0.000000	0.64402	D	0.000002	T	0.63885	0.2549	M	0.93016	3.37	0.43588	D	0.995939	D	0.89917	1.0	D	0.97110	1.0	T	0.67593	-0.5631	10	0.87932	D	0	-23.5174	7.2679	0.26239	0.2021:0.0:0.7979:0.0	.	181	Q8IYG6	LRC56_HUMAN	F	181	ENSP00000270115:L181F	ENSP00000270115:L181F	L	+	3	2	LRRC56	540191	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	3.264000	0.51553	1.116000	0.41820	0.491000	0.48974	TTG	LRRC56	-	NULL	ENSG00000161328		0.662	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	HGNC	protein_coding	OTTHUMT00000254969.1	-	0	55	0	G	NM_198075		550191	1	tier1	-	no_errors	ENST00000270115	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	550191	G	T	550191	3	4	177	1	0	0	0	0	1	0	0	0	9047	1310	46	3	561	3	LRRC56	11	550191	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		550191	134456325	93	44102											
OR51L1	119682	genome.wustl.edu	37	chr11	5020651	5020651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtgtaattggcaaaattGgtttggcctgtttgctacga	10	14	11	6	1	0	0	0	0	0	0	0	1	0	0	1	3	2	5	1	3	4	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:5020651G>T	ENST00000321543.1	+	1	439	c.439G>T	c.(439-441)Ggt>Tgt	p.G147C		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCAAAATTGGTTTGGCCTG	0.507																																																	0													316	275	289					11																	5020651		2201	4298	6499	SO:0001583	missense	0			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"GPCR / Class A : Olfactory receptors"	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.439G>T	11.37:g.5020651G>T	ENSP00000322156:p.Gly147Cys		Q6IFE5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G147C	ENST00000321543.1	37	c.439	CCDS31369.1	11	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462385	0.26248	.	.	ENSG00000176798	ENST00000321543	T	0.35236	1.32	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000384	T	0.60689	0.2288	M	0.88181	2.935	0.09310	N	1	D	0.56035	0.974	P	0.60541	0.876	T	0.60224	-0.7305	10	0.87932	D	0	.	11.1631	0.48526	0.0:0.0:0.8166:0.1833	.	147	Q8NGJ5	O51L1_HUMAN	C	147	ENSP00000322156:G147C	ENSP00000322156:G147C	G	+	1	0	OR51L1	4977227	1.000000	0.71417	0.979000	0.43373	0.046000	0.14306	5.823000	0.69272	2.685000	0.91497	0.557000	0.71058	GGT	OR51L1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176798		0.507	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51L1	HGNC	protein_coding	OTTHUMT00000142812.1	-	0	42	0	G	NM_001004755		5020651	1	tier1	-	no_errors	ENST00000321543	ensembl	human	known	74_37	missense	32.69	35	17	SNP	0.107	T	T	5020651	G	T	5020651	3	4	177	1	0	0	0	0	1	0	0	0	11141	1348	47	3	441	3	OR51L1	11	5020651	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	4470460	5020651	129985865	94	44103											
CTR9	9646	genome.wustl.edu	37	chr11	10773002	10773002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcccctccgggacactgacGaggtaagtgtcgtgtatgga	8	10	13	10	3	0	1	0	1	0	0	3	4	2	3	3	3	0	2	3	3	2	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:10773002G>A	ENST00000361367.2	+	1	469	c.43G>A	c.(43-45)Gag>Aag	p.E15K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	15					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGACACTGACGAGGTAAGTGT	0.622																																																	0													36	38	37					11																	10773002		2201	4294	6495	SO:0001583	missense	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.43G>A	11.37:g.10773002G>A	ENSP00000355013:p.Glu15Lys		D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E15K	ENST00000361367.2	37	c.43	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.401477	0.97537	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T	0.58652	0.32	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	M	0.81239	2.535	0.80722	D	1	P	0.50272	0.933	P	0.44772	0.46	T	0.73065	-0.4100	10	0.72032	D	0.01	-28.1709	18.1653	0.89723	0.0:0.0:1.0:0.0	.	15	Q6PD62	CTR9_HUMAN	K	15;2	ENSP00000355013:E15K	ENSP00000355013:E15K	E	+	1	0	CTR9	10729578	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.006000	0.93592	2.805000	0.96524	0.650000	0.86243	GAG	CTR9	-	NULL	ENSG00000198730		0.622	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	-	0	32	0	G	NM_014633		10773002	1	tier1	-	no_errors	ENST00000361367	ensembl	human	known	74_37	missense	27.91	31	12	SNP	1.000	A	A	10773002	G	A	10773002	3	1	177	1	0	0	0	0	1	0	0	0	4033	1059	37	1	45	1	CTR9	11	10773002	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	5752351	10773002	124233514	95	44104											
CTR9	9646	genome.wustl.edu	37	chr11	10787949	10787949	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttttaaatatgttttcagGctatttgcgcctaggagcca	10	15	8	8	1	1	0	1	0	0	0	1	1	1	1	2	2	2	2	2	2	5	8			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:10787949G>A	ENST00000361367.2	+	13	2024	c.1598G>A	c.(1597-1599)tGc>tAc	p.C533Y		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	533					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATGTTTTCAGGCTATTTGCGC	0.308																																																	0													74	80	78					11																	10787949		2201	4294	6495	SO:0001630	splice_region_variant	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1598-1G>A	11.37:g.10787949G>A			D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.C533Y	ENST00000361367.2	37	c.1598	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587496	0.86851	.	.	ENSG00000198730	ENST00000361367	T	0.16196	2.36	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.52653	-0.8547	10	0.66056	D	0.02	.	19.4253	0.94739	0.0:0.0:1.0:0.0	.	533	Q6PD62	CTR9_HUMAN	Y	533	ENSP00000355013:C533Y	ENSP00000355013:C533Y	C	+	2	0	CTR9	10744525	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.839000	0.99476	2.688000	0.91661	0.650000	0.86243	TGC	CTR9	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000198730		0.308	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	-	0	202	0	G	NM_014633	Missense_Mutation	10787949	1	tier1	-	no_errors	ENST00000361367	ensembl	human	known	74_37	missense	38.46	143	90	SNP	1.000	A	A	10787949	G	A	10787949	5	1	177	1	0	0	0	0	0	0	1	0	4033	1217	42	3	1648	3	CTR9	11	10787949	Splice_Site	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	14947	10787949	124218567	96	44105											
MRGPRX3	117195	genome.wustl.edu	37	chr11	18158962	18158962	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcaacctggtcgcggcCgacttcctcttccttagcgg	5	11	9	16	4	2	0	1	0	1	0	6	1	5	0	5	3	2	0	5	3	2	3	rs147032356		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:18158962C>T	ENST00000396275.2	+	3	574	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	71						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						TGGTCGCGGCCGACTTCCTCT	0.567																																																	0													98	93	95					11																	18158962		2200	4293	6493	SO:0001819	synonymous_variant	0				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.213C>T	11.37:g.18158962C>T			B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A71	ENST00000396275.2	37	c.213	CCDS7830.1	11																																																																																			MRGPRX3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179826		0.567	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	HGNC	protein_coding	OTTHUMT00000389767.1	-	0	26	0	C	NM_054031		18158962	1	tier1	-	no_errors	ENST00000396275	ensembl	human	known	74_37	silent	46.67	16	14	SNP	0.554	T	T	18158962	C	T	18158962	2	4	177	1	0	0	0	0	0	0	0	1	9806	639	23	1		1	MRGPRX3	11	18158962	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	7371013	18158962	116847554	97	44106											
PTPMT1	114971	genome.wustl.edu	37	chr11	47591400	47591400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttacgtgcattgtaaggctgGgcgctccaggagtgccacta	8	10	13	10	2	0	0	0	0	0	0	1	1	1	1	2	3	3	4	2	3	3	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:47591400G>T	ENST00000326674.9	+	3	426	c.404G>T	c.(403-405)gGg>gTg	p.G135V	PTPMT1_ENST00000326656.8_Intron|PTPMT1_ENST00000534775.1_3'UTR|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000426530.2_Intron	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	135	Tyrosine-protein phosphatase.				cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TGTAAGGCTGGGCGCTCCAGG	0.532																																																	0													112	113	113					11																	47591400		2006	4158	6164	SO:0001583	missense	0			BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.404G>T	11.37:g.47591400G>T	ENSP00000325958:p.Gly135Val		E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase	p.G135V	ENST00000326674.9	37	c.404	CCDS41643.1	11	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675623	0.88445	.	.	ENSG00000110536	ENST00000326674	D	0.97089	-4.24	5.04	5.04	0.67666	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	D	0.98887	0.9623	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99624	1.0984	10	0.87932	D	0	-11.5634	16.9281	0.86182	0.0:0.0:1.0:0.0	.	135	Q8WUK0	PTPM1_HUMAN	V	135	ENSP00000325958:G135V	ENSP00000325958:G135V	G	+	2	0	PTPMT1	47547976	1.000000	0.71417	0.926000	0.36857	0.966000	0.64601	9.127000	0.94417	2.513000	0.84729	0.563000	0.77884	GGG	PTPMT1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase	ENSG00000110536		0.532	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	PTPMT1	HGNC	protein_coding	OTTHUMT00000391746.1	-	0	54	0	G	XM_374879		47591400	1	tier1	-	no_errors	ENST00000326674	ensembl	human	novel	74_37	missense	8.33	44	4	SNP	1.000	T	T	47591400	G	T	47591400	3	4	177	1	0	0	0	0	1	0	0	0	12821	1232	43	3	519	3	PTPMT1	11	47591400	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	29432438	47591400	87415116	98	44107											
OR4C16	219428	genome.wustl.edu	37	chr11	55339899	55339899	+	Missense_Mutation	SNP	T	T	C	0	1	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	cagcgagtgcatgatccaagTcttttcatcccatgtctttg	8	14	8	11	1	3	1	1	1	2	0	5	2	5	1	2	0	2	1	2	0	1	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:55339899T>C	ENST00000314634.3	+	1	296	c.296T>C	c.(295-297)gTc>gCc	p.V99A		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATGATCCAAGTCTTTTCATCC	0.473																																																	0													249	239	243					11																	55339899		2201	4296	6497	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.296T>C	11.37:g.55339899T>C	ENSP00000324913:p.Val99Ala		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V99A	ENST00000314634.3	37	c.296	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478737	0.44044	.	.	ENSG00000181935	ENST00000314634	T	0.02890	4.12	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.350691	0.24717	N	0.036163	T	0.05502	0.0145	L	0.44542	1.39	0.09310	N	1	P	0.41313	0.745	P	0.45794	0.493	T	0.18023	-1.0350	10	0.66056	D	0.02	.	12.6625	0.56822	0.0:0.0:0.0:1.0	.	99	Q8NGL9	OR4CG_HUMAN	A	99	ENSP00000324913:V99A	ENSP00000324913:V99A	V	+	2	0	OR4C16	55096475	0.200000	0.23398	0.065000	0.19835	0.640000	0.38277	1.923000	0.40055	2.097000	0.63578	0.448000	0.29417	GTC	OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181935		0.473	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0	42	0	T	NM_001004701		55339899	1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	36.00	32	18	SNP	0.364	C	C	55339899	T	C	55339899	3	2	177	1	0	0	0	0	1	0	0	0	11088	1667	58	4	298	4	OR4C16	11	55339899	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	7748499	55339899	79666617	99	44108											
UBXN1	51035	genome.wustl.edu	37	chr11	62444460	62444460	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacgtctgggtcagtgaggtCccatctggcagcctgaccta	8	9	12	12	1	3	2	1	2	2	0	4	2	4	2	3	3	2	1	3	3	2	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:62444460C>T	ENST00000301935.5	-	8	835	c.669G>A	c.(667-669)ggG>ggA	p.G223G	UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000294119.2_Silent_p.G223G|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Silent_p.G219G			Q04323	UBXN1_HUMAN	UBX domain protein 1	223	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						TCAGTGAGGTCCCATCTGGCA	0.582																																																	0													48	50	49					11																	62444460		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"UBX domain containing"	18402	protein-coding gene	gene with protein product	"SAPK substrate protein 1"					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.669G>A	11.37:g.62444460C>T			Q9BV93|Q9BVV5	Silent	SNP	pfam_UBX,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX	p.G223	ENST00000301935.5	37	c.669		11																																																																																			UBXN1	-	pfam_UBX,smart_UBX,pfscan_UBX	ENSG00000162191		0.582	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	UBXN1	HGNC	protein_coding	OTTHUMT00000395153.1		0	36	0	C	NM_015853		62444460	-1			no_errors	ENST00000294119	ensembl	human	known	74_37	silent	7.14	26	2	SNP	1.000	T	T	62444460	C	T	62444460	2	4	177	1	0	0	0	0	0	0	0	1	16960	842	30	3		3	UBXN1	11	62444460	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	7104561	62444460	72562056	100	44109											
CCDC87	55231	genome.wustl.edu	37	chr11	66359702	66359702	+	Frame_Shift_Del	DEL	T	T	-																															agggcagccagtggaaaggcTttttcctcttcaaccgaggg																										TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:66359702delT	ENST00000333861.3	-	1	852	c.785delA	c.(784-786)aagfs	p.K262fs	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	262					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GTGGAAAGGCTTTTTCCTCTT	0.527																																																	0													70	62	65					11																	66359702		2200	4295	6495	SO:0001589	frameshift_variant	0			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.785delA	11.37:g.66359702delT	ENSP00000328487:p.Lys262fs		Q8NE76	Frame_Shift_Del	DEL	pfam_MAP65_Ase1_PRC1	p.K262fs	ENST00000333861.3	37	c.785	CCDS8145.1	11																																																																																			CCDC87	-	NULL	ENSG00000182791		0.527	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1		0	32	0	T	NM_018219		66359702	-1	tier1		no_errors	ENST00000333861	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.002	-	-	66359702	T	-	66359702	7	5	177	1	0	1	0	1	0	0	0	0	2869	1609	56	0	1768	0	CCDC87	11	66359702	Frame_Shift_Del	DEL	T	TCGA-X8-AAAR-01A-11D-A403-09	3915242	66359702	68646814	101	44110											
PITPNM1	9600	genome.wustl.edu	37	chr11	67265453	67265453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcactgtggcagagtgcatCaaagcccaggatgccaccaa	13	5	11	12	0	1	1	1	0	0	1	1	2	1	2	3	2	4	3	3	2	2	0			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:67265453C>T	ENST00000534749.1	-	11	1905	c.1717G>A	c.(1717-1719)Gat>Aat	p.D573N	PITPNM1_ENST00000356404.3_Missense_Mutation_p.D573N|PITPNM1_ENST00000436757.2_Missense_Mutation_p.D573N			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	573					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						CAGAGTGCATCAAAGCCCAGG	0.642																																					GBM(28;144 709 4607 5525)												0													55	51	52					11																	67265453		2200	4295	6495	SO:0001583	missense	0			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.1717G>A	11.37:g.67265453C>T	ENSP00000437286:p.Asp573Asn		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.D573N	ENST00000534749.1	37	c.1717	CCDS31620.1	11	.	.	.	.	.	.	.	.	.	.	c	22.0	4.224093	0.79576	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.66099	-0.18;-0.19;-0.18	3.98	3.98	0.46160	.	0.000000	0.44688	D	0.000436	T	0.79986	0.4541	M	0.83384	2.64	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.83970	0.0326	10	0.87932	D	0	-17.3274	15.1894	0.73032	0.0:1.0:0.0:0.0	.	573;573	O00562-2;O00562	.;PITM1_HUMAN	N	573	ENSP00000437286:D573N;ENSP00000398787:D573N;ENSP00000348772:D573N	ENSP00000348772:D573N	D	-	1	0	PITPNM1	67022029	1.000000	0.71417	0.950000	0.38849	0.587000	0.36485	7.476000	0.81055	2.235000	0.73313	0.556000	0.70494	GAT	PITPNM1	-	NULL	ENSG00000110697		0.642	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	HGNC	protein_coding	OTTHUMT00000395520.1	-	0	64	0	C	NM_004910		67265453	-1	tier1	-	no_errors	ENST00000356404	ensembl	human	known	74_37	missense	29.11	56	23	SNP	1.000	T	T	67265453	C	T	67265453	3	4	177	1	0	0	0	0	1	0	0	0	11989	826	29	3	2069	3	PITPNM1	11	67265453	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	905751	67265453	67741063	102	44111											
ALDH3B1	221	genome.wustl.edu	37	chr11	67789291	67789291	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgggcattgctgggctgCggcgtgtggccattgggggc	2	9	20	10	3	0	0	0	0	0	0	0	0	0	0	1	6	3	3	1	6	0	2	rs549718152|rs543365099	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:67789291C>T	ENST00000539229.1	+	8	1013	c.897C>T	c.(895-897)tgC>tgT	p.C299C	ALDH3B1_ENST00000316367.6_Intron|RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000342456.6_Splice_Site_p.C263C|ALDH3B1_ENST00000007633.8_Splice_Site_p.C299C|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	300					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										TGCTGGGCTGCGGCGTGTGGC	0.642													C|||	1	0.000199681	0	0	5008	,	,		17407	0		0	False		,,,				2504	0.001																0													36	44	41					11																	67789291		2200	4294	6494	SO:0001630	splice_region_variant	0			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"Aldehyde dehydrogenases"	410	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 7", "aldehyde dehydrogenase 3B1"	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.897+1C>T	11.37:g.67789291C>T			A3FMP9|Q53XL5|Q8N515|Q96CK8	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.C299	ENST00000539229.1	37	c.897		11																																																																																			ALDH3B1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000006534		0.642	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	ALDH3B1	HGNC	protein_coding		-	0	71	0	C	NM_000694	Silent	67789291	1	tier1	-	no_errors	ENST00000007633	ensembl	human	known	74_37	silent	33.65	68	35	SNP	0.614	T	T	67789291	C	T	67789291	5	4	177	1	0	0	0	0	0	0	1	0	499	776	27	1	921	1	ALDH3B1	11	67789291	Splice_Site	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	523838	67789291	67217225	103	44112											
SYTL2	54843	genome.wustl.edu	37	chr11	85406306	85406306	+	Missense_Mutation	SNP	A	A	G	1	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	ttcaatccaagtattgggggAgtttaccatcttctcccaga	10	13	8	10	0	3	1	1	0	2	1	5	2	4	2	3	2	1	2	3	2	4	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:85406306A>G	ENST00000528231.1	-	18	3014	c.2737T>C	c.(2737-2739)Tcc>Ccc	p.S913P	SYTL2_ENST00000533892.1_Missense_Mutation_p.S315P|SYTL2_ENST00000524452.1_Missense_Mutation_p.S889P|SYTL2_ENST00000359152.5_Missense_Mutation_p.S1759P|SYTL2_ENST00000354566.3_Missense_Mutation_p.S1251P|SYTL2_ENST00000525702.1_Missense_Mutation_p.S355P|SYTL2_ENST00000389960.4_Missense_Mutation_p.S889P|SYTL2_ENST00000316356.4_Missense_Mutation_p.S914P|SYTL2_ENST00000389958.3_Missense_Mutation_p.S344P|SYTL2_ENST00000527523.1_Missense_Mutation_p.S881P|SYTL2_ENST00000525423.1_Missense_Mutation_p.S1235P|SYTL2_ENST00000529581.1_Missense_Mutation_p.S355P	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	913					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)		GTATTGGGGGAGTTTACCATC	0.443																																																	0													112	107	109					11																	85406306		2203	4299	6502	SO:0001583	missense	0			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.2737T>C	11.37:g.85406306A>G	ENSP00000431701:p.Ser913Pro		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.S1759P	ENST00000528231.1	37	c.5275	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	A	17.82	3.482005	0.63849	.	.	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	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.78	2.05	0.26809	C2 calcium/lipid-binding domain, CaLB (1);	0.483897	0.24611	N	0.037047	T	0.75766	0.3894	M	0.65498	2.005	0.09310	N	1	P;D;D;P;P;D;D;D;P;D	0.71674	0.936;0.986;0.977;0.936;0.937;0.998;0.996;0.997;0.898;0.957	P;P;P;P;P;D;P;D;P;P	0.69307	0.596;0.899;0.756;0.596;0.691;0.963;0.879;0.947;0.713;0.799	T	0.63739	-0.6569	9	.	.	.	-0.8891	2.5121	0.04659	0.5318:0.1625:0.0694:0.2362	.	881;889;913;914;731;1211;1235;1251;344;315	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	P	889;1759;1251;914;355;1235;355;344;630;913;315;881;889	ENSP00000374610:S889P;ENSP00000352065:S1759P;ENSP00000346576:S1251P;ENSP00000318803:S914P;ENSP00000432996:S355P;ENSP00000432694:S1235P;ENSP00000435855:S355P;ENSP00000374608:S344P;ENSP00000435009:S630P;ENSP00000431701:S913P;ENSP00000432144:S315P;ENSP00000434010:S881P;ENSP00000435238:S889P	.	S	-	1	0	SYTL2	85083954	0.176000	0.23096	0.886000	0.34754	0.968000	0.65278	0.912000	0.28597	0.360000	0.24265	0.533000	0.62120	TCC	SYTL2	-	superfamily_C2_dom	ENSG00000137501		0.443	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1		0	41	0	A	NM_206927		85406306	-1			no_errors	ENST00000359152	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.024	G	G	85406306	A	G	85406306	3	3	177	1	0	0	0	0	1	0	0	0	15530	304	11	4	71	4	SYTL2	11	85406306	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	17617015	85406306	49600210	104	44113											
NAALAD2	10003	genome.wustl.edu	37	chr11	89896509	89896509	+	Silent	SNP	C	C	T	0	0	0	1	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	attctgggaggtcaccgggaCtcctgggtatttggagctat	7	12	14	8	1	2	0	1	0	1	0	3	3	3	3	2	5	1	2	2	5	2	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:89896509C>T	ENST00000534061.1	+	10	1337	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	NAALAD2_ENST00000525171.1_Silent_p.D276D|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.D336D	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	369	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)				GTCACCGGGACTCCTGGGTAT	0.378																																																	0													120	128	125					11																	89896509		2201	4299	6500	SO:0001819	synonymous_variant	0			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.1107C>T	11.37:g.89896509C>T			B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.D369	ENST00000534061.1	37	c.1107	CCDS8288.1	11																																																																																			NAALAD2	-	pfam_Peptidase_M28	ENSG00000077616		0.378	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	-	0	103	0	C	NM_005467		89896509	1	tier1	-	no_errors	ENST00000534061	ensembl	human	known	74_37	silent	32.08	72	34	SNP	1.000	T	T	89896509	C	T	89896509	2	4	177	1	0	0	0	0	0	0	0	1	10166	564	20	3		3	NAALAD2	11	89896509	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	4490203	89896509	45110007	105	44114											
ARCN1	372	genome.wustl.edu	37	chr11	118452049	118452049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacccgaactcggattgaggGcttattagcagcttttccaa	10	11	10	10	2	0	1	0	1	0	0	2	4	1	2	2	2	3	3	2	2	4	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:118452049G>A	ENST00000264028.4	+	2	187	c.92G>A	c.(91-93)gGc>gAc	p.G31D	ARCN1_ENST00000534182.2_Missense_Mutation_p.G31D|ARCN1_ENST00000359415.4_Missense_Mutation_p.G72D|ARCN1_ENST00000392859.3_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	31					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)		CGGATTGAGGGCTTATTAGCA	0.458																																																	0													118	109	112					11																	118452049		2200	4295	6495	SO:0001583	missense	0			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.92G>A	11.37:g.118452049G>A	ENSP00000264028:p.Gly31Asp		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.G31D	ENST00000264028.4	37	c.92	CCDS8400.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732664	0.89482	.	.	ENSG00000095139	ENST00000359415;ENST00000542521;ENST00000534182;ENST00000264028	T;T	0.34275	1.37;1.4	5.55	4.64	0.57946	Longin-like (1);AP complex, mu/sigma subunit (1);	0.045370	0.85682	N	0.000000	T	0.69043	0.3067	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	T	0.78588	-0.2146	10	0.87932	D	0	-20.0651	14.3731	0.66854	0.0709:0.0:0.9291:0.0	.	31;72;31	E9PK34;B0YIW6;P48444	.;.;COPD_HUMAN	D	72;31;31;31	ENSP00000352385:G72D;ENSP00000264028:G31D	ENSP00000264028:G31D	G	+	2	0	ARCN1	117957259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.390000	0.97246	1.369000	0.46134	0.643000	0.83706	GGC	ARCN1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom	ENSG00000095139		0.458	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1	-	0	53	0	G			118452049	1	tier1	-	no_errors	ENST00000264028	ensembl	human	known	74_37	missense	52.00	24	26	SNP	1.000	A	A	118452049	G	A	118452049	3	1	177	1	0	0	0	0	1	0	0	0	842	1203	42	3	98	3	ARCN1	11	118452049	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	28555540	118452049	16554467	106	44115											
POU2F3	25833	genome.wustl.edu	37	chr11	120169099	120169099	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaaatgccagcccatgtcaGgtaacactgtgattttcaca	12	11	7	11	0	2	1	2	1	0	0	2	1	2	1	2	1	3	1	2	1	3	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:120169099G>T	ENST00000543440.2	+	4	408	c.258G>T	c.(256-258)caG>caT	p.Q86H	POU2F3_ENST00000260264.4_Splice_Site_p.Q88H	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	86					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)		GCCCATGTCAGGTAACACTGT	0.532																																																	0													119	113	115					11																	120169099		2203	4300	6503	SO:0001630	splice_region_variant	0			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.258+1G>T	11.37:g.120169099G>T			A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.Q88H	ENST00000543440.2	37	c.264	CCDS8431.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.635160|3.635160	0.67130|0.67130	.|.	.|.	ENSG00000137709|ENSG00000137709	ENST00000533620|ENST00000543440;ENST00000260264	.|D;D	.|0.83250	.|-1.7;-1.69	4.06|4.06	-1.92|-1.92	0.07618|0.07618	.|.	.|2.182450	.|0.01829	.|N	.|0.034548	.|T	.|0.73024	.|0.3534	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.57207	.|-0.7851	.|10	0.72032|0.48119	D|T	0.01|0.1	.|.	6.5422|6.5422	0.22387|0.22387	0.0981:0.0:0.2734:0.6286|0.0981:0.0:0.2734:0.6286	.|.	.|86	.|Q9UKI9	.|PO2F3_HUMAN	X|H	25|88;86	.|ENSP00000441687:Q88H;ENSP00000260264:Q86H	ENSP00000435738:G25X|ENSP00000260264:Q86H	G|Q	+|+	1|3	0|2	POU2F3|POU2F3	119674309|119674309	0.021000|0.021000	0.18746|0.18746	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.501000|0.501000	0.22578|0.22578	-0.662000|-0.662000	0.05338|0.05338	-0.897000|-0.897000	0.02905|0.02905	GGA|CAG	POU2F3	-	prints_TF_octamer	ENSG00000137709		0.532	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2F3	HGNC	protein_coding	OTTHUMT00000388039.2		0	30	0	G		Missense_Mutation	120169099	1			no_errors	ENST00000260264	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.001	T	T	120169099	G	T	120169099	5	4	177	1	0	0	0	0	0	0	1	0	12312	1014	35	3	272	3	POU2F3	11	120169099	Splice_Site	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	1717050	120169099	14837417	107	44116											
GRIK4	2900	genome.wustl.edu	37	chr11	120776197	120776197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatggtcggggagctgatcGctagggtaaggagaggacaa	12	6	18	5	2	0	2	0	1	0	1	2	6	0	4	0	6	1	3	0	6	4	2	rs137989709		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:120776197G>A	ENST00000527524.2	+	13	1758	c.1471G>A	c.(1471-1473)Gct>Act	p.A491T	GRIK4_ENST00000438375.2_Missense_Mutation_p.A491T	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	491					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GGAGCTGATCGCTAGGGTAAG	0.592																																																	0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	71	71	71		1471	3.3	1	11	dbSNP_134	71	0,8598		0,0,4299	no	missense	GRIK4	NM_014619.2	58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	491/957	120776197	1,13003	2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1471G>A	11.37:g.120776197G>A	ENSP00000435648:p.Ala491Thr		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A491T	ENST00000527524.2	37	c.1471	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649457	0.47362	2.27E-4	0.0	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11604	2.76;2.76	5.33	3.28	0.37604	Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.205021	0.43919	D	0.000513	T	0.07007	0.0178	N	0.11560	0.145	0.23150	N	0.998213	B;B	0.15719	0.003;0.014	B;B	0.19391	0.025;0.025	T	0.30060	-0.9991	10	0.54805	T	0.06	.	13.0692	0.59050	0.0:0.0:0.5117:0.4883	.	491;491	A6H8K8;Q16099	.;GRIK4_HUMAN	T	491	ENSP00000435648:A491T;ENSP00000404063:A491T	ENSP00000404063:A491T	A	+	1	0	GRIK4	120281407	0.182000	0.23173	0.991000	0.47740	0.996000	0.88848	0.773000	0.26661	0.442000	0.26555	0.655000	0.94253	GCT	GRIK4	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000149403		0.592	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	-	0	15	0	G	NM_014619		120776197	1	tier1	rs137989709	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.353	A	A	120776197	G	A	120776197	3	1	177	1	0	0	0	0	1	0	0	0	6803	1087	38	1	1513	1	GRIK4	11	120776197	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	607098	120776197	14230319	108	44117											
EFCAB4B	84766	genome.wustl.edu	37	chr12	3747573	3747573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatatccactcaggcccaggGagcttctccttgggatgcca	8	9	11	13	0	2	0	1	0	1	0	4	3	3	2	4	3	2	1	4	3	1	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:3747573G>A	ENST00000440314.2	-	14	1792	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F		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)			CAGGCCCAGGGAGCTTCTCCT	0.592																																																	0													15	18	17					12																	3747573		692	1591	2283	SO:0001583	missense	0																														ENST00000440314.2:c.1319C>T	12.37:g.3747573G>A	ENSP00000409382:p.Ser440Phe		B4E1X0|B9EK63	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.S440F	ENST00000440314.2	37	c.1319	CCDS44803.1	12	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085160	0.55861	.	.	ENSG00000130038	ENST00000440314	T	0.62498	0.02	4.97	4.97	0.65823	.	.	.	.	.	T	0.79381	0.4436	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.82028	-0.0660	8	0.87932	D	0	.	15.7687	0.78146	0.0:0.0:1.0:0.0	.	440	Q9BSW2-2	.	F	440	ENSP00000409382:S440F	ENSP00000409382:S440F	S	-	2	0	EFCAB4B	3617834	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	6.361000	0.73070	2.575000	0.86900	0.650000	0.86243	TCC	EFCAB4B	-	NULL	ENSG00000130038		0.592	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398640.2	-	0	85	0	G			3747573	-1	tier1	-	no_errors	ENST00000440314	ensembl	human	known	74_37	missense	50.63	39	40	SNP	1.000	A	A	3747573	G	A	3747573	3	1	177	1	0	0	0	0	1	0	0	0	4951	1174	41	3	904	3	EFCAB4B	12	3747573	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		3747573	130104322	109	44118											
IFFO1	25900	genome.wustl.edu	37	chr12	6664974	6664974	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagggtcttgagcacgttGatgttggagcccaggtcatt	7	13	13	8	1	3	2	2	2	1	0	3	3	3	3	1	3	2	3	1	3	0	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:6664974G>C	ENST00000396840.2	-	1	263	c.222C>G	c.(220-222)atC>atG	p.I74M	IFFO1_ENST00000356896.4_Missense_Mutation_p.I74M|IFFO1_ENST00000336604.4_Missense_Mutation_p.I74M|NOP2_ENST00000542015.1_5'Flank			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	74						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TGAGCACGTTGATGTTGGAGC	0.697																																																	0													51	54	53					12																	6664974		2203	4300	6503	SO:0001583	missense	0			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.222C>G	12.37:g.6664974G>C	ENSP00000380052:p.Ile74Met		Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	NULL	p.I74M	ENST00000396840.2	37	c.222		12	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085009	0.76642	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	T;T;T	0.51817	0.69;0.69;0.69	4.22	4.22	0.49857	.	0.775904	0.10450	U	0.673202	T	0.66015	0.2747	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.64901	-0.6298	10	0.87932	D	0	-20.3315	15.5044	0.75725	0.0:0.0:1.0:0.0	.	74;74;74;74	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	M	74	ENSP00000337593:I74M;ENSP00000380052:I74M;ENSP00000349364:I74M	ENSP00000337593:I74M	I	-	3	3	IFFO1	6535235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.556000	0.73932	2.172000	0.68678	0.561000	0.74099	ATC	IFFO1	-	NULL	ENSG00000010295		0.697	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	IFFO1	HGNC	protein_coding	OTTHUMT00000280428.1	-	0	25	0	G	NM_080730		6664974	-1	tier1	-	no_errors	ENST00000356896	ensembl	human	known	74_37	missense	65.00	7	13	SNP	1.000	C	C	6664974	G	C	6664974	3	2	177	1	0	0	0	0	1	0	0	0	7537	1280	45	5	1509	5	IFFO1	12	6664974	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	2917401	6664974	127186921	110	44119											
CD163	9332	genome.wustl.edu	37	chr12	7640477	7640477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctcacactggaattcttCagcccagatctgtccatttc	8	13	5	15	0	4	1	2	0	2	1	7	2	6	2	3	1	1	0	3	1	1	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:7640477C>T	ENST00000359156.4	-	7	1829	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CD163_ENST00000432237.2_Missense_Mutation_p.E543K|CD163_ENST00000396620.3_Missense_Mutation_p.E543K|CD163_ENST00000541972.1_Missense_Mutation_p.E531K|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	543	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGGAATTCTTCAGCCCAGATC	0.537																																																	0													102	90	94					12																	7640477		2203	4300	6503	SO:0001583	missense	0			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.1627G>A	12.37:g.7640477C>T	ENSP00000352071:p.Glu543Lys		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.E543K	ENST00000359156.4	37	c.1627	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621582	0.87460	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.33	4.42	0.53409	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.460667	0.22616	N	0.057764	T	0.48040	0.1478	L	0.58810	1.83	0.42729	D	0.993708	P;P;P	0.52692	0.955;0.782;0.906	P;B;P	0.55577	0.779;0.255;0.714	T	0.42241	-0.9463	10	0.48119	T	0.1	.	12.6578	0.56797	0.0:0.9138:0.0:0.0862	.	543;543;543	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	K	543;531;543;543	ENSP00000352071:E543K;ENSP00000444071:E531K;ENSP00000379863:E543K;ENSP00000403885:E543K	ENSP00000352071:E543K	E	-	1	0	CD163	7531744	0.903000	0.30736	1.000000	0.80357	0.986000	0.74619	3.079000	0.50104	2.663000	0.90544	0.655000	0.94253	GAA	CD163	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000177575		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	-	0	42	0	C	NM_004244, NM_203416		7640477	-1	tier1	-	no_errors	ENST00000359156	ensembl	human	known	74_37	missense	38.71	18	12	SNP	1.000	T	T	7640477	C	T	7640477	3	4	177	1	0	0	0	0	1	0	0	0	2974	835	29	3	1883	3	CD163	12	7640477	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	975503	7640477	126211418	111	44120											
LRRK2	120892	genome.wustl.edu	37	chr12	40634288	40634288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctttcatttttaagtctCagaggagcaactgactgaat	11	15	8	7	0	3	3	2	2	2	1	4	4	3	4	0	1	2	1	0	1	3	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:40634288C>T	ENST00000298910.7	+	6	633	c.575C>T	c.(574-576)tCa>tTa	p.S192L	LRRK2_ENST00000343742.2_Missense_Mutation_p.S192L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	192					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.S192L(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)				TTTTAAGTCTCAGAGGAGCAA	0.274																																																	2	Substitution - Missense(2)	biliary_tract(2)											68	68	68					12																	40634288		2203	4296	6499	SO:0001583	missense	0			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.575C>T	12.37:g.40634288C>T	ENSP00000298910:p.Ser192Leu		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.S192L	ENST00000298910.7	37	c.575	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371448	0.61624	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.53423	0.62;0.62	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.351559	0.26879	N	0.022027	T	0.54647	0.1871	L	0.43152	1.355	0.36945	D	0.892578	D	0.54964	0.969	P	0.52159	0.691	T	0.62877	-0.6761	10	0.72032	D	0.01	.	18.2426	0.89973	0.0:1.0:0.0:0.0	.	192	Q5S007	LRRK2_HUMAN	L	192	ENSP00000341930:S192L;ENSP00000298910:S192L	ENSP00000298910:S192L	S	+	2	0	LRRK2	38920555	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	5.572000	0.67411	2.613000	0.88420	0.650000	0.86243	TCA	LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.274	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	63	0	C	XM_058513		40634288	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	T	T	40634288	C	T	40634288	3	4	177	1	0	0	0	0	1	0	0	0	9068	838	29	3	597	3	LRRK2	12	40634288	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	32993811	40634288	93217607	112	44121											
DIP2B	57609	genome.wustl.edu	37	chr12	51097964	51097964	+	Silent	SNP	G	G	T	0	0	1	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	ggctctcctgttggggatgtGccattcatccgatcaggatt	6	13	12	10	1	3	0	2	0	1	0	5	3	4	2	3	4	1	2	3	4	0	3	rs554657164		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:51097964G>T	ENST00000301180.5	+	20	2401	c.2367G>T	c.(2365-2367)gtG>gtT	p.V789V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	789						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						TTGGGGATGTGCCATTCATCC	0.378																																																	0													160	148	152					12																	51097964		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2367G>T	12.37:g.51097964G>T			Q6B011|Q8N1L5|Q8NB38	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V789	ENST00000301180.5	37	c.2367	CCDS31799.1	12																																																																																			DIP2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066084		0.378	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	-	0	89	0	G	NM_173602		51097964	1	tier1	-	no_errors	ENST00000301180	ensembl	human	known	74_37	silent	5.10	93	5	SNP	0.065	T	T	51097964	G	T	51097964	2	4	177	1	0	0	0	0	0	0	0	1	4542	1306	46	3		3	DIP2B	12	51097964	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	10463676	51097964	82753931	113	44122											
NFE2	4778	genome.wustl.edu	37	chr12	54686491	54686491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtcccggactagcgctagCtggctctctgtcagcgggta	6	10	13	12	3	2	0	1	0	1	0	4	1	3	1	1	3	3	4	1	3	3	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:54686491C>T	ENST00000540264.2	-	2	1298	c.789G>A	c.(787-789)caG>caA	p.Q263Q	NFE2_ENST00000435572.2_Silent_p.Q263Q|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.Q263Q|NFE2_ENST00000312156.4_Silent_p.Q263Q			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	263					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CTAGCGCTAGCTGGCTCTCTG	0.547																																																	0													47	44	45					12																	54686491		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"basic leucine zipper proteins"	7780	protein-coding gene	gene with protein product		601490	"nuclear factor (erythroid-derived 2), 45kD", "nuclear factor (erythroid-derived 2), 45kDa"			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.789G>A	12.37:g.54686491C>T			Q07720|Q6ICV9	Silent	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.Q263	ENST00000540264.2	37	c.789	CCDS8876.1	12																																																																																			NFE2	-	pfam_bZIP_Maf,superfamily_TF_DNA-bd	ENSG00000123405		0.547	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFE2	HGNC	protein_coding	OTTHUMT00000405747.1	-	0	28	0	C	NM_006163		54686491	-1	tier1	-	no_errors	ENST00000312156	ensembl	human	known	74_37	silent	12.90	27	4	SNP	1.000	T	T	54686491	C	T	54686491	2	4	177	1	0	0	0	0	0	0	0	1	10405	796	28	3		3	NFE2	12	54686491	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	3588527	54686491	79165404	114	44123											
RAB5B	5869	genome.wustl.edu	37	chr12	56384572	56384572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgacctggccaacaaacGtatggtggagtatgaagtaa	14	8	12	7	1	0	2	0	2	0	0	0	3	0	3	2	3	3	4	2	3	6	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:56384572G>T	ENST00000360299.5	+	4	643	c.422G>T	c.(421-423)cGt>cTt	p.R141L	RAB5B_ENST00000448789.2_Intron|RAB5B_ENST00000553116.1_Missense_Mutation_p.R141L	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	141					antigen processing and presentation (GO:0019882)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GCCAACAAACGTATGGTGGAG	0.517																																																	0													127	120	123					12																	56384572		2203	4300	6503	SO:0001583	missense	0				CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"RAB, member RAS oncogene"	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.422G>T	12.37:g.56384572G>T	ENSP00000353444:p.Arg141Leu		A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R141L	ENST00000360299.5	37	c.422	CCDS8900.1	12	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804519	0.90623	.	.	ENSG00000111540	ENST00000553116;ENST00000360299	T;T	0.80304	-1.36;-1.36	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000006	D	0.91297	0.7256	M	0.90814	3.15	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73708	0.981;0.981	D	0.92901	0.6339	10	0.87932	D	0	-5.429	17.1784	0.86848	0.0:0.0:1.0:0.0	.	141;141	Q6FI54;P61020	.;RAB5B_HUMAN	L	141	ENSP00000450168:R141L;ENSP00000353444:R141L	ENSP00000353444:R141L	R	+	2	0	RAB5B	54670839	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.755000	0.85180	2.676000	0.91093	0.585000	0.79938	CGT	RAB5B	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000111540		0.517	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB5B	HGNC	protein_coding	OTTHUMT00000405396.1		0	24	0	G			56384572	1			no_errors	ENST00000360299	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	56384572	G	T	56384572	3	4	177	1	0	0	0	0	1	0	0	0	12994	1145	40	2	432	2	RAB5B	12	56384572	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	1698081	56384572	77467323	115	44124											
GEFT	115557	genome.wustl.edu	37	chr12	58007066	58007066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactggatgttggagccagCtctagccacaggagaggagc	11	6	15	9	0	1	1	0	0	1	1	1	6	1	4	2	4	5	2	2	4	2	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:58007066C>A	ENST00000286494.4	+	3	792	c.332C>A	c.(331-333)gCt>gAt	p.A111D	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.A150D|AC025165.8_ENST00000593846.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	111						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						TTGGAGCCAGCTCTAGCCACA	0.602																																																	0													41	38	39					12																	58007066		2203	4300	6503	SO:0001583	missense	0				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.332C>A	12.37:g.58007066C>A	ENSP00000286494:p.Ala111Asp		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A150D	ENST00000286494.4	37	c.449	CCDS8947.1	12	.	.	.	.	.	.	.	.	.	.	c	3.316	-0.139703	0.06669	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.47528	0.84;0.84	3.37	3.37	0.38596	.	0.646875	0.12891	N	0.430560	T	0.32704	0.0838	N	0.22421	0.69	0.26650	N	0.972118	B;B	0.25609	0.13;0.01	B;B	0.28849	0.095;0.029	T	0.16129	-1.0413	10	0.17369	T	0.5	.	10.4414	0.44469	0.0:1.0:0.0:0.0	.	150;111	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	D	150;111	ENSP00000335560:A150D;ENSP00000286494:A111D	ENSP00000286494:A111D	A	+	2	0	ARHGEF25	56293333	0.052000	0.20516	0.998000	0.56505	0.049000	0.14656	0.867000	0.27968	1.909000	0.55274	0.455000	0.32223	GCT	ARHGEF25	-	NULL	ENSG00000240771		0.602	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	HGNC	protein_coding	OTTHUMT00000326561.1	-	0	28	0	C	NM_133483		58007066	1	tier1	-	no_errors	ENST00000333972	ensembl	human	known	74_37	missense	50.00	22	22	SNP	0.999	A	A	58007066	C	A	58007066	3	1	177	1	0	0	0	0	1	0	0	0	6354	797	28	3	564	3	GEFT	12	58007066	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	1622494	58007066	75844829	116	44125											
DCN	1634	genome.wustl.edu	37	chr12	91558455	91558455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttgcaggtctagcagaGttgtgtcagggggaagatcc	8	12	15	6	0	2	2	1	0	1	2	3	3	3	3	1	3	2	4	1	3	2	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:91558455G>T	ENST00000052754.5	-	3	752	c.251C>A	c.(250-252)aCt>aAt	p.T84N	DCN_ENST00000552962.1_Missense_Mutation_p.T84N|DCN_ENST00000456569.2_Intron|DCN_ENST00000441303.2_Missense_Mutation_p.T84N|DCN_ENST00000228329.5_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.T84N|DCN_ENST00000547568.2_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000303320.3_Missense_Mutation_p.T84N	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	84					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						GTCTAGCAGAGTTGTGTCAGG	0.403																																																	0													133	121	125					12																	91558455		2203	4300	6503	SO:0001583	missense	0			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.251C>A	12.37:g.91558455G>T	ENSP00000052754:p.Thr84Asn		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.T84N	ENST00000052754.5	37	c.251	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813027	0.32053	.	.	ENSG00000011465	ENST00000052754;ENST00000303320;ENST00000393155;ENST00000552962;ENST00000441303;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513	T;D;T;T;D;T;T;T;D	0.84442	3.47;-1.85;3.47;3.47;-1.85;3.47;3.47;3.47;-1.85	6.08	5.07	0.68467	Leucine-rich repeat-containing N-terminal (1);	0.178850	0.64402	D	0.000013	D	0.89114	0.6623	L	0.49455	1.56	0.80722	D	1	B;D	0.76494	0.011;0.999	B;D	0.70016	0.058;0.967	D	0.88326	0.2965	10	0.42905	T	0.14	.	13.015	0.58751	0.0932:0.0:0.9068:0.0	.	84;84	P07585;P07585-4	PGS2_HUMAN;.	N	84	ENSP00000052754:T84N;ENSP00000302031:T84N;ENSP00000376862:T84N;ENSP00000447654:T84N;ENSP00000399815:T84N;ENSP00000449782:T84N;ENSP00000447886:T84N;ENSP00000449014:T84N;ENSP00000449438:T84N	ENSP00000052754:T84N	T	-	2	0	DCN	90082586	1.000000	0.71417	0.090000	0.20809	0.013000	0.08279	4.301000	0.59086	1.328000	0.45358	0.591000	0.81541	ACT	DCN	-	smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.403	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3		0	76	0	G	NM_133507		91558455	-1			no_errors	ENST00000052754	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.742	T	T	91558455	G	T	91558455	3	4	177	1	0	0	0	0	1	0	0	0	4306	1029	36	3	852	3	DCN	12	91558455	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	33551389	91558455	42293440	117	44126											
PXN	5829	genome.wustl.edu	37	chr12	120652004	120652004	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggtgccacgtccggtcaAgggctgtcaccactttctgt	6	10	12	13	2	3	0	2	0	1	0	4	0	4	0	3	3	1	1	3	3	1	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:120652004A>T	ENST00000228307.7	-	10	1436	c.1295T>A	c.(1294-1296)cTt>cAt	p.L432H	PXN_ENST00000397506.3_Missense_Mutation_p.L244H|PXN_ENST00000424649.2_Missense_Mutation_p.L398H|PXN_ENST00000267257.7_Missense_Mutation_p.L446H|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000536957.1_Missense_Mutation_p.L430H|PXN_ENST00000458477.2_Missense_Mutation_p.L265H|PXN-AS1_ENST00000542265.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	432	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)					CGTCCGGTCAAGGGCTGTCAC	0.597																																																	0													27	29	29					12																	120652004		1889	3880	5769	SO:0001583	missense	0			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.1295T>A	12.37:g.120652004A>T	ENSP00000228307:p.Leu432His		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.L446H	ENST00000228307.7	37	c.1337	CCDS44997.1	12	.	.	.	.	.	.	.	.	.	.	A	27.7	4.855902	0.91355	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000331257;ENST00000541856	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.54	5.54	0.83059	Zinc finger, LIM-type (5);	.	.	.	.	D	0.95746	0.8616	M	0.92833	3.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.997;0.998	D	0.96747	0.9551	9	0.87932	D	0	.	15.6783	0.77344	1.0:0.0:0.0:0.0	.	398;446;244;432	P49023-2;P49023-3;E7EMK8;P49023	.;.;.;PAXI_HUMAN	H	265;432;398;430;446;244;60;157	ENSP00000395536:L265H;ENSP00000228307:L432H;ENSP00000391283:L398H;ENSP00000443887:L430H;ENSP00000267257:L446H;ENSP00000380643:L244H	ENSP00000228307:L432H	L	-	2	0	PXN	119136387	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.159000	0.94728	2.114000	0.64651	0.528000	0.53228	CTT	PXN	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000089159		0.597	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	-	0	43	0	A	NM_002859		120652004	-1	tier1	-	no_errors	ENST00000267257	ensembl	human	known	74_37	missense	55.17	13	16	SNP	1.000	T	T	120652004	A	T	120652004	3	4	177	1	0	0	0	0	1	0	0	0	12897	72	3	5	492	5	PXN	12	120652004	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	29093549	120652004	13199891	118	44127											
SFRS8	6433	genome.wustl.edu	37	chr12	132262865	132262865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgcctatcggacagtgCggcggtcgaggtgggtgtga	6	8	18	9	4	0	1	0	1	0	0	2	3	0	2	2	5	2	0	2	5	1	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:132262865C>T	ENST00000261674.4	+	14	2539	c.2398C>T	c.(2398-2400)Cgg>Tgg	p.R800W	SFSWAP_ENST00000541286.1_Missense_Mutation_p.R800W	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	800	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TCGGACAGTGCGGCGGTCGAG	0.522																																																	0													116	88	98					12																	132262865		2203	4300	6503	SO:0001583	missense	0			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2398C>T	12.37:g.132262865C>T	ENSP00000261674:p.Arg800Trp		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.R800W	ENST00000261674.4	37	c.2398	CCDS9273.1	12	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481255	0.44147	.	.	ENSG00000061936	ENST00000261674;ENST00000541286	T;T	0.27557	1.66;2.28	5.73	4.83	0.62350	.	0.048839	0.85682	D	0.000000	T	0.51449	0.1675	L	0.56769	1.78	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.54476	-0.8288	10	0.87932	D	0	-22.4244	13.7863	0.63112	0.3957:0.6043:0.0:0.0	.	800;800	F5H6B8;Q12872	.;SFSWA_HUMAN	W	800	ENSP00000261674:R800W;ENSP00000437738:R800W	ENSP00000261674:R800W	R	+	1	2	SFSWAP	130828818	0.978000	0.34361	0.962000	0.40283	0.654000	0.38779	1.206000	0.32321	1.400000	0.46741	0.655000	0.94253	CGG	SFSWAP	-	NULL	ENSG00000061936		0.522	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	-	0	46	0	C	NM_004592		132262865	1	tier1	-	no_errors	ENST00000261674	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.991	T	T	132262865	C	T	132262865	3	4	177	1	0	0	0	0	1	0	0	0	14228	759	27	1	2452	1	SFRS8	12	132262865	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	11610861	132262865	1589030	119	44128											
POLE	5426	genome.wustl.edu	37	chr12	133233956	133233956	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagggccgcagggatGgtgatgatcttctggatggc	6	10	17	8	1	2	2	0	2	2	0	2	4	2	4	1	5	2	3	1	5	0	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:133233956G>T	ENST00000320574.5	-	28	3481	c.3438C>A	c.(3436-3438)acC>acA	p.T1146T	POLE_ENST00000535270.1_Silent_p.T1119T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1146					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)	CCGCAGGGATGGTGATGATCT	0.572								DNA polymerases (catalytic subunits)																																									0													66	64	65					12																	133233956		2203	4300	6503	SO:0001819	synonymous_variant	0				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.3438C>A	12.37:g.133233956G>T			Q13533|Q86VH9	Silent	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.T1146	ENST00000320574.5	37	c.3438	CCDS9278.1	12																																																																																			POLE	-	NULL	ENSG00000177084		0.572	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0	43	0	G	NM_006231		133233956	-1	tier1	-	no_errors	ENST00000320574	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.084	T	T	133233956	G	T	133233956	2	4	177	1	0	0	0	0	0	0	0	1	12235	1335	47	3		3	POLE	12	133233956	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	971091	133233956	617939	120	44129											
CCNA1	8900	genome.wustl.edu	37	chr13	37014283	37014283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccttcagtacttgaggcGacaaggagtgtgcgtcagga	9	10	13	9	2	3	1	2	1	1	0	4	4	3	3	1	3	2	1	1	3	2	3	rs267603812		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr13:37014283G>A	ENST00000255465.4	+	6	1325	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	CCNA1_ENST00000449823.1_Missense_Mutation_p.R310Q|CCNA1_ENST00000418263.1_Missense_Mutation_p.R353Q|CCNA1_ENST00000440264.1_Missense_Mutation_p.R310Q			P78396	CCNA1_HUMAN	cyclin A1	354					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TACTTGAGGCGACAAGGAGTG	0.458													G|||	1	0.000199681	0	0	5008	,	,		18248	0		0.001	False		,,,				2504	0																0													146	144	145					13																	37014283		2203	4300	6503	SO:0001583	missense	0			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1061G>A	13.37:g.37014283G>A	ENSP00000255465:p.Arg354Gln		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.R354Q	ENST00000255465.4	37	c.1061	CCDS9357.1	13	.	.	.	.	.	.	.	.	.	.	G	7.832	0.720121	0.15372	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	6.03	2.97	0.34412	Cyclin, C-terminal (1);Cyclin-like (3);	0.313817	0.41605	D	0.000846	T	0.19327	0.0464	L	0.55743	1.74	0.09310	N	1	B;B	0.30686	0.246;0.29	B;B	0.32805	0.094;0.153	T	0.18618	-1.0331	10	0.11182	T	0.66	.	12.4257	0.55544	0.2111:0.0:0.7889:0.0	.	353;354	P78396-2;P78396	.;CCNA1_HUMAN	Q	310;310;353;354	ENSP00000400666:R310Q;ENSP00000409873:R310Q;ENSP00000396479:R353Q;ENSP00000255465:R354Q	ENSP00000255465:R354Q	R	+	2	0	CCNA1	35912283	0.013000	0.17824	0.009000	0.14445	0.726000	0.41606	1.694000	0.37752	0.890000	0.36211	0.555000	0.69702	CGA	CCNA1	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000133101		0.458	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2	-	0	74	0	G	NM_003914		37014283	1	tier1	-	no_errors	ENST00000255465	ensembl	human	known	74_37	missense	26.76	52	19	SNP	0.000	A	A	37014283	G	A	37014283	3	1	177	1	0	0	0	0	1	0	0	0	2916	1058	37	1	1083	1	CCNA1	13	37014283	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		37014283	78155595	121	44130											
C13orf18	80183	genome.wustl.edu	37	chr13	46924468	46924468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctaggtattcgcagtacCggagccgcttcacaaactct	9	10	8	14	3	2	0	1	0	1	0	4	1	3	1	3	2	3	4	3	2	4	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr13:46924468C>T	ENST00000429979.1	-	11	1953	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	KIAA0226L_ENST00000389908.3_Missense_Mutation_p.R450Q|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.R450Q|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.R315Q|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.R383Q|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.R293Q|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.R293Q|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.R450Q	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	450										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TTCGCAGTACCGGAGCCGCTT	0.527																																																	0													36	37	37					13																	46924468		2200	4284	6484	SO:0001583	missense	0			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.1349G>A	13.37:g.46924468C>T	ENSP00000396935:p.Arg450Gln		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	NULL	p.R450Q	ENST00000429979.1	37	c.1349	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	C	34	5.304750	0.95601	.	.	ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T	0.59502	0.36;0.26;0.38;0.36;0.26;0.42	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000005	T	0.77864	0.4194	M	0.81179	2.53	0.80722	D	1	P;P;D;D;D;D	0.89917	0.892;0.892;0.999;0.999;0.999;1.0	P;P;D;D;D;D	0.72075	0.593;0.593;0.976;0.976;0.959;0.951	T	0.77768	-0.2464	10	0.48119	T	0.1	-13.197	18.8943	0.92417	0.0:1.0:0.0:0.0	.	293;293;450;315;383;450	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.;.	Q	450;450;383;450;450;293;293;315	ENSP00000396935:R450Q;ENSP00000368074:R450Q;ENSP00000368061:R383Q;ENSP00000374558:R450Q;ENSP00000368064:R450Q;ENSP00000437501:R315Q	ENSP00000315633:R293Q	R	-	2	0	KIAA0226L	45822469	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.638000	0.83328	2.785000	0.95823	0.650000	0.86243	CGG	KIAA0226L	-	NULL	ENSG00000102445		0.527	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	-	0	44	0	C	NM_025113		46924468	-1	tier1	-	no_errors	ENST00000389908	ensembl	human	known	74_37	missense	38.81	41	26	SNP	1.000	T	T	46924468	C	T	46924468	3	4	177	1	0	0	0	0	1	0	0	0	1725	652	23	1	659	1	C13orf18	13	46924468	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	9910185	46924468	68245410	122	44131											
ZIC5	85416	genome.wustl.edu	37	chr13	100623848	100623848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggttcctcttgctcaaagGgggctccatcagaactacac	9	9	10	13	1	3	1	2	0	1	1	5	1	5	1	2	3	3	3	2	3	3	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr13:100623848G>T	ENST00000267294.4	-	1	315	c.82C>A	c.(82-84)Cct>Act	p.P28T		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	28					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGCTCAAAGGGGGCTCCATC	0.567																																																	0													9	10	9					13																	100623848		2186	4268	6454	SO:0001583	missense	0			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.82C>A	13.37:g.100623848G>T	ENSP00000267294:p.Pro28Thr		Q5VYB0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P28T	ENST00000267294.4	37	c.82	CCDS9494.2	13	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282522	0.40394	.	.	ENSG00000139800	ENST00000267294	T	0.15256	2.44	4.26	4.26	0.50523	.	.	.	.	.	T	0.26011	0.0634	L	0.29908	0.895	0.51767	D	0.999935	D	0.76494	0.999	D	0.64144	0.922	T	0.01298	-1.1392	9	0.40728	T	0.16	.	13.1932	0.59723	0.0:0.1612:0.8388:0.0	.	28	Q96T25	ZIC5_HUMAN	T	28	ENSP00000267294:P28T	ENSP00000267294:P28T	P	-	1	0	ZIC5	99421849	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.364000	0.52328	2.165000	0.68154	0.305000	0.20034	CCT	ZIC5	-	NULL	ENSG00000139800		0.567	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	HGNC	protein_coding	OTTHUMT00000045623.3	-	0	77	0	G	NM_033132		100623848	-1	tier1	-	no_errors	ENST00000267294	ensembl	human	known	74_37	missense	36.71	50	29	SNP	1.000	T	T	100623848	G	T	100623848	3	4	177	1	0	0	0	0	1	0	0	0	17730	1232	43	3	1917	3	ZIC5	13	100623848	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	53699380	100623848	14546030	123	44132											
MYO16	23026	genome.wustl.edu	37	chr13	109318471	109318471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cacggacatgctacaggacgCgattatccaccacaatgaca	14	6	8	13	3	0	1	0	1	0	0	1	4	1	3	2	2	2	1	2	2	3	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr13:109318471C>T	ENST00000357550.2	+	1	241	c.200C>T	c.(199-201)gCg>gTg	p.A67V	MYO16_ENST00000251041.5_Missense_Mutation_p.A67V|MYO16_ENST00000356711.2_Missense_Mutation_p.A67V	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)			CTACAGGACGCGATTATCCAC	0.423																																																	0													53	47	49					13																	109318471		2203	4300	6503	SO:0001583	missense	0				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.200C>T	13.37:g.109318471C>T	ENSP00000350160:p.Ala67Val			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A67V	ENST00000357550.2	37	c.200	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555479	0.65425	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.79653	-1.29;-1.29;-1.29	5.37	5.37	0.77165	Ankyrin repeat-containing domain (4);	0.000000	0.36134	U	0.002767	D	0.91099	0.7198	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91831	0.5475	9	.	.	.	.	18.0975	0.89494	0.0:1.0:0.0:0.0	.	67;67	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	V	67	ENSP00000349145:A67V;ENSP00000350160:A67V;ENSP00000251041:A67V	.	A	+	2	0	MYO16	108116472	1.000000	0.71417	0.490000	0.27465	0.063000	0.16089	6.898000	0.75676	2.506000	0.84524	0.650000	0.86243	GCG	MYO16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000041515		0.423	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0	95	0	C	NM_015011		109318471	1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	11.11	119	15	SNP	1.000	T	T	109318471	C	T	109318471	3	4	177	1	0	0	0	0	1	0	0	0	10102	768	27	1	202	1	MYO16	13	109318471	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	8694623	109318471	5851407	124	44133											
KCNH5	27133	genome.wustl.edu	37	chr14	63473102	63473102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtttttcttgtacagaaGaacttcaaagcagtttgatt	12	16	7	6	0	2	3	1	1	1	2	2	3	2	3	0	0	3	4	0	0	4	7			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr14:63473102G>T	ENST00000322893.7	-	3	554	c.286C>A	c.(286-288)Ctt>Att	p.L96I	KCNH5_ENST00000420622.2_Missense_Mutation_p.L96I|KCNH5_ENST00000394964.2_Missense_Mutation_p.L38I|KCNH5_ENST00000394968.1_Missense_Mutation_p.L38I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	96	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)		TTGTACAGAAGAACTTCAAAG	0.353																																																	0													94	92	92					14																	63473102		2202	4299	6501	SO:0001583	missense	0			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.286C>A	14.37:g.63473102G>T	ENSP00000321427:p.Leu96Ile		C9JP98	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.L96I	ENST00000322893.7	37	c.286	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276998	0.59758	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.35	5.35	0.76521	PAS-associated, C-terminal (1);PAS (1);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.82811	0.5118	L	0.49640	1.575	0.80722	D	1	P;B;P;D	0.54601	0.756;0.296;0.55;0.967	P;B;B;P	0.58391	0.53;0.259;0.259;0.838	T	0.78388	-0.2223	10	0.22109	T	0.4	.	19.4335	0.94781	0.0:0.0:1.0:0.0	.	38;38;96;96	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	I	96;96;38;38	ENSP00000321427:L96I;ENSP00000395439:L96I;ENSP00000378419:L38I;ENSP00000378415:L38I	ENSP00000321427:L96I	L	-	1	0	KCNH5	62542855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.655000	0.90218	0.655000	0.94253	CTT	KCNH5	-	pfam_PAS_fold,superfamily_PAS,smart_PAC,pfscan_PAS-assoc_C,tigrfam_PAS	ENSG00000140015		0.353	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1		0	45	0	G	NM_139318		63473102	-1			no_errors	ENST00000322893	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	63473102	G	T	63473102	3	4	177	1	0	0	0	0	1	0	0	0	8062	942	33	3	2750	3	KCNH5	14	63473102	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		63473102	43876438	125	44134											
RGS6	9628	genome.wustl.edu	37	chr14	72936735	72936735	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaacttagcaagactccaGagggcctttgcgaggaagtg	13	7	13	8	1	0	2	0	0	0	2	1	5	1	3	2	2	3	1	2	2	5	2	rs536217214		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr14:72936735G>C	ENST00000553530.1	+	8	687	c.480G>C	c.(478-480)caG>caC	p.Q160H	RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000555571.1_Missense_Mutation_p.Q160H|RGS6_ENST00000343854.6_Missense_Mutation_p.Q160H|RGS6_ENST00000404301.2_Missense_Mutation_p.Q160H|RGS6_ENST00000355512.6_Missense_Mutation_p.Q160H|RGS6_ENST00000556437.1_Missense_Mutation_p.Q160H|RGS6_ENST00000554782.1_Missense_Mutation_p.Q21H|RGS6_ENST00000402788.2_Missense_Mutation_p.Q160H|RGS6_ENST00000406236.4_Missense_Mutation_p.Q160H|RGS6_ENST00000407322.4_Missense_Mutation_p.Q160H|RGS6_ENST00000553525.1_Missense_Mutation_p.Q160H|RGS6_ENST00000434263.2_Missense_Mutation_p.Q91H	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	160					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAAGACTCCAGAGGGCCTTTG	0.398																																					Ovarian(143;1926 2468 21071 48641)												0													111	104	106					14																	72936735		2203	4300	6503	SO:0001583	missense	0			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.480G>C	14.37:g.72936735G>C	ENSP00000452331:p.Gln160His		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.Q160H	ENST00000553530.1	37	c.480	CCDS9808.1	14	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396146	0.62177	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.33438	1.55;1.41;1.41;1.55;1.42;1.56;1.56;1.57;1.41;1.42;1.52;1.55	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	L	0.37800	1.135	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.993	T	0.11941	-1.0567	10	0.36615	T	0.2	-10.4952	12.2573	0.54631	0.0784:0.0:0.9216:0.0	.	91;160;165;160	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	H	160;160;160;160;160;160;160;160;160;160;132;91;21;21	ENSP00000451030:Q160H;ENSP00000450936:Q160H;ENSP00000452331:Q160H;ENSP00000451855:Q160H;ENSP00000347699:Q160H;ENSP00000385243:Q160H;ENSP00000384218:Q160H;ENSP00000384612:Q160H;ENSP00000383953:Q160H;ENSP00000341199:Q160H;ENSP00000412144:Q91H;ENSP00000451912:Q21H	ENSP00000341199:Q160H	Q	+	3	2	RGS6	72006488	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.245000	0.78237	2.749000	0.94314	0.655000	0.94253	CAG	RGS6	-	NULL	ENSG00000182732		0.398	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	-	0	50	0	G			72936735	1	tier1	-	no_errors	ENST00000553525	ensembl	human	known	74_37	missense	27.87	44	17	SNP	1.000	C	C	72936735	G	C	72936735	3	2	177	1	0	0	0	0	1	0	0	0	13354	933	33	5	506	5	RGS6	14	72936735	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	9463633	72936735	34412805	126	44135											
PTPN21	11099	genome.wustl.edu	37	chr14	88945689	88945689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacagggacttcttatggcCgtacctcaagccctccgcct	7	9	9	16	3	2	0	1	0	1	0	3	2	3	1	5	2	2	1	5	2	3	3	rs150243696	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr14:88945689C>T	ENST00000556564.1	-	13	2370	c.2086G>A	c.(2086-2088)Ggc>Agc	p.G696S	PTPN21_ENST00000328736.3_Missense_Mutation_p.G696S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	696					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						TTCTTATGGCCGTACCTCAAG	0.677																																																	0													60	57	58					14																	88945689		2203	4300	6503	SO:0001583	missense	0			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.2086G>A	14.37:g.88945689C>T	ENSP00000452414:p.Gly696Ser			Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.G696S	ENST00000556564.1	37	c.2086	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113540	0.37339	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.71934	-0.61;-0.61	5.34	4.44	0.53790	.	0.219310	0.47455	N	0.000229	T	0.58807	0.2148	L	0.38531	1.155	0.30575	N	0.763159	B	0.23540	0.087	B	0.20384	0.029	T	0.54788	-0.8241	10	0.19147	T	0.46	.	13.0973	0.59200	0.0:0.9211:0.0:0.0789	.	696	Q16825	PTN21_HUMAN	S	696	ENSP00000330276:G696S;ENSP00000452414:G696S	ENSP00000330276:G696S	G	-	1	0	PTPN21	88015442	0.991000	0.36638	0.002000	0.10522	0.004000	0.04260	4.653000	0.61462	1.209000	0.43321	0.655000	0.94253	GGC	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000070778		0.677	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	-	0	20	0	C			88945689	-1	tier1	-	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.949	T	T	88945689	C	T	88945689	3	4	177	1	0	0	0	0	1	0	0	0	12831	652	23	1	1466	1	PTPN21	14	88945689	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	16008954	88945689	18403851	127	44136											
DISP2	85455	genome.wustl.edu	37	chr15	40650534	40650536	+	In_Frame_Del	DEL	CAG	CAG	-																															cccacgggcatggacggtgaCagcagcagcagcagcggcgg																										TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr15:40650534_40650536delCAG	ENST00000267889.3	+	1	99_101	c.12_14delCAG	c.(10-15)gacagc>gac	p.S9del		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	9					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)		TGGACGGTGAcagcagcagcagc	0.818																																																	0										9,1127		3,3,562						-2.5	0			1	32,2792		9,14,1389	no	coding	DISP2	NM_033510.1		12,17,1951	A1A1,A1R,RR		1.1331,0.7923,1.0354				41,3919				SO:0001651	inframe_deletion	0			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.12_14delCAG	15.37:g.40650543_40650545delCAG	ENSP00000267889:p.Ser9del		Q6AHW3|Q9C0C1	In_Frame_Del	DEL	pfscan_SSD	p.S8in_frame_del	ENST00000267889.3	37	c.12_14	CCDS10056.1	15																																																																																			DISP2	-	NULL	ENSG00000140323		0.818	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1		0	9	0	CAG	NM_033510		40650536	1			no_errors	ENST00000267889	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	0.000:0.000:0.006	0	-	40650536	CAG	-	40650534	7	5	177	1	0	1	0	1	0	0	0	0	4554	477	17	0	14	0	DISP2	15	40650534	In_Frame_Del	DEL	CAG	TCGA-X8-AAAR-01A-11D-A403-09		40650534	61880858	128	44137											
ZFP106	64397	genome.wustl.edu	37	chr15	42743781	42743781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagccacctgttccttcaGaaagccaactggaattcctt	13	10	6	12	0	1	1	1	0	0	1	3	2	3	2	5	1	3	1	5	1	5	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr15:42743781G>A	ENST00000263805.4	-	2	946	c.620C>T	c.(619-621)tCt>tTt	p.S207F	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_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	207					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)										TGTTCCTTCAGAAAGCCAACT	0.418																																																	0													131	128	129					15																	42743781		2203	4299	6502	SO:0001583	missense	0			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.620C>T	15.37:g.42743781G>A	ENSP00000263805:p.Ser207Phe		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S207F	ENST00000263805.4	37	c.620	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552649	0.65425	.	.	ENSG00000103994	ENST00000263805	T	0.57907	0.37	5.85	4.93	0.64822	.	0.371676	0.27544	N	0.018886	T	0.48677	0.1513	L	0.47716	1.5	0.80722	D	1	B	0.19200	0.034	B	0.16722	0.016	T	0.48068	-0.9067	10	0.87932	D	0	-4.7363	14.9014	0.70681	0.069:0.0:0.931:0.0	.	207	Q9H2Y7	ZF106_HUMAN	F	207	ENSP00000263805:S207F	ENSP00000263805:S207F	S	-	2	0	ZFP106	40531073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.250000	0.58772	1.471000	0.48121	0.645000	0.84053	TCT	ZNF106	-	NULL	ENSG00000103994		0.418	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF106	HGNC	protein_coding	OTTHUMT00000422587.1	-	0	50	0	G	NM_022473		42743781	-1	tier1	-	no_errors	ENST00000263805	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	A	A	42743781	G	A	42743781	3	1	177	1	0	0	0	0	1	0	0	0	17685	942	33	3	5103	3	ZFP106	15	42743781	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	2093247	42743781	59787611	129	44138											
WHAMM	123720	genome.wustl.edu	37	chr15	83499739	83499739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagaacttaggcttccGggctccagtgaaagatgacc	11	9	10	11	1	2	4	2	2	0	2	4	4	4	4	3	2	1	2	3	2	3	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr15:83499739G>A	ENST00000286760.4	+	9	2129	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	677	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)	p.R677Q(2)		endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						TTAGGCTTCCGGGCTCCAGTG	0.587																																																	2	Substitution - Missense(2)	endometrium(2)											60	65	63					15																	83499739		2126	4250	6376	SO:0001583	missense	0			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.2030G>A	15.37:g.83499739G>A	ENSP00000286760:p.Arg677Gln		Q8N1J9	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.R677Q	ENST00000286760.4	37	c.2030	CCDS45333.1	15	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556540	0.45487	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.09163	3.01	4.43	1.27	0.21489	.	3.921550	0.00904	N	0.002383	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.18968	0.032	B	0.13407	0.009	T	0.31943	-0.9925	10	0.12766	T	0.61	.	4.0038	0.09592	0.2087:0.0:0.6066:0.1847	.	677	Q8TF30	WHAMM_HUMAN	Q	677	ENSP00000286760:R677Q	ENSP00000234505:R677Q	R	+	2	0	WHAMM	81296793	0.017000	0.18338	0.000000	0.03702	0.792000	0.44763	1.792000	0.38754	0.478000	0.27488	0.205000	0.17691	CGG	WHAMM	-	NULL	ENSG00000156232		0.587	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	-	0	13	0	G			83499739	1	tier1	-	no_errors	ENST00000286760	ensembl	human	known	74_37	missense	66.67	2	4	SNP	0.000	A	A	83499739	G	A	83499739	3	1	177	1	0	0	0	0	1	0	0	0	17410	1116	39	1	2064	1	WHAMM	15	83499739	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	40755958	83499739	19031653	130	44139											
SEMA4B	10509	genome.wustl.edu	37	chr15	90760682	90760682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccccaggctctgaagagCggccattcctcagattcgaa	9	9	9	14	2	3	3	1	1	2	2	6	4	4	3	4	2	1	1	4	2	2	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr15:90760682C>T	ENST00000411539.2	+	2	429	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	SEMA4B_ENST00000379122.3_Missense_Mutation_p.R52W|SEMA4B_ENST00000332496.6_Missense_Mutation_p.R57W	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	52	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CTCTGAAGAGCGGCCATTCCT	0.557																																																	0													39	37	38					15																	90760682		1943	4144	6087	SO:0001583	missense	0			AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.169C>T	15.37:g.90760682C>T	ENSP00000394720:p.Arg57Trp		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.R57W	ENST00000411539.2	37	c.169	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968043	0.53507	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.32272	1.46;1.46;1.46	5.62	3.67	0.42095	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.426470	0.23405	N	0.048538	T	0.57315	0.2045	M	0.82823	2.61	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61397	-0.7071	10	0.66056	D	0.02	.	12.8268	0.57725	0.5621:0.4379:0.0:0.0	.	57;52	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	W	57;52;57	ENSP00000332204:R57W;ENSP00000368417:R52W;ENSP00000394720:R57W	ENSP00000332204:R57W	R	+	1	2	SEMA4B	88561686	1.000000	0.71417	0.537000	0.28052	0.544000	0.35116	0.998000	0.29744	0.659000	0.30945	-0.181000	0.13052	CGG	SEMA4B	-	superfamily_Semap_dom,pfscan_Semap_dom	ENSG00000185033		0.557	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1		0	44	0	C	NM_198925		90760682	1			no_errors	ENST00000332496	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	90760682	C	T	90760682	3	4	177	1	0	0	0	0	1	0	0	0	14077	759	27	1	175	1	SEMA4B	15	90760682	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	7260943	90760682	11770710	131	44140											
SV2B	9899	genome.wustl.edu	37	chr15	91832791	91832791	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtctgctgcttcttcctGttttttggcaacagtgagtc	5	16	10	10	0	2	1	0	1	2	0	4	1	3	1	1	1	3	5	1	1	1	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr15:91832791G>T	ENST00000394232.1	+	12	2219	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L	SV2B_ENST00000330276.4_Silent_p.L583L|SV2B_ENST00000545111.2_Silent_p.L432L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	583					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)			GCTTCTTCCTGTTTTTTGGCA	0.522																																																	0													217	183	194					15																	91832791		2198	4298	6496	SO:0001819	synonymous_variant	0			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.1749G>T	15.37:g.91832791G>T			B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.L583	ENST00000394232.1	37	c.1749	CCDS10370.1	15																																																																																			SV2B	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	ENSG00000185518		0.522	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	HGNC	protein_coding	OTTHUMT00000313494.3		0	27	0	G	NM_014848		91832791	1			no_errors	ENST00000330276	ensembl	human	known	74_37	silent	9.09	20	2	SNP	1.000	T	T	91832791	G	T	91832791	2	4	177	1	0	0	0	0	0	0	0	1	15465	1364	48	3		3	SV2B	15	91832791	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	1072109	91832791	10698601	132	44141											
BTBD12	84464	genome.wustl.edu	37	chr16	3633194	3633194	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	catcattgaggcctggaggtGcctccttggtgggcgacctg	5	10	15	11	1	1	1	1	1	0	0	2	3	2	2	4	5	1	0	4	5	0	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:3633194G>T	ENST00000294008.3	-	14	5697	c.5057C>A	c.(5056-5058)gCa>gAa	p.A1686E	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1686	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCCTGGAGGTGCCTCCTTGGT	0.587								Direct reversal of damage																																									0													153	137	142					16																	3633194		2197	4300	6497	SO:0001583	missense	0			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.5057C>A	16.37:g.3633194G>T	ENSP00000294008:p.Ala1686Glu		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.A1686E	ENST00000294008.3	37	c.5057	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	G	5.302	0.241161	0.10077	.	.	ENSG00000188827	ENST00000294008	T	0.01099	5.34	4.88	-4.32	0.03688	.	1.677140	0.03202	N	0.174889	T	0.00524	0.0017	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43278	-0.9401	10	0.02654	T	1	.	1.292	0.02062	0.3466:0.0986:0.138:0.4168	.	1686	Q8IY92	SLX4_HUMAN	E	1686	ENSP00000294008:A1686E	ENSP00000294008:A1686E	A	-	2	0	SLX4	3573195	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.048000	0.01406	-0.611000	0.05709	-0.136000	0.14681	GCA	SLX4	-	NULL	ENSG00000188827		0.587	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3		0	76	0	G	NM_032444		3633194	-1			no_errors	ENST00000294008	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.000	T	T	3633194	G	T	3633194	3	4	177	1	0	0	0	0	1	0	0	0	1544	1319	46	3	455	3	BTBD12	16	3633194	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		3633194	86721559	133	44142											
SEC14L5	9717	genome.wustl.edu	37	chr16	5009369	5009369	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccgagtctacaagtacccGtttgagctggtcatggcggt	7	11	13	10	3	2	1	1	1	1	0	3	2	3	1	2	3	3	3	2	3	3	3	rs541090079	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:5009369G>T	ENST00000251170.7	+	2	225	c.45G>T	c.(43-45)ccG>ccT	p.P15P		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	15	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.P15P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACAAGTACCCGTTTGAGCTGG	0.577																																																	1	Substitution - coding silent(1)	lung(1)											119	120	119					16																	5009369		2089	4226	6315	SO:0001819	synonymous_variant	0			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.45G>T	16.37:g.5009369G>T				Silent	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.P15	ENST00000251170.7	37	c.45	CCDS45403.1	16																																																																																			SEC14L5	-	pfscan_PRELI/MSF1	ENSG00000103184		0.577	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1		0	55	0	G			5009369	1			no_errors	ENST00000251170	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.645	T	T	5009369	G	T	5009369	2	4	177	1	0	0	0	0	0	0	0	1	14030	1132	40	2		2	SEC14L5	16	5009369	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	1376175	5009369	85345384	134	44143											
ZP2	7783	genome.wustl.edu	37	chr16	21212848	21212848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctcactagagggtactcGttttccccataaggttgttg	9	14	9	9	1	1	1	1	0	1	1	4	1	2	1	2	2	1	4	2	2	4	7	rs116035262	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:21212848G>A	ENST00000574002.1	-	15	2018	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N	ZP2_ENST00000574091.1_Silent_p.N503N|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.N512N			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	512	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.N512N(1)		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)		GAGGGTACTCGTTTTCCCCAT	0.428													G|||	11	0.00219649	0.0076	0	5008	,	,		21289	0.001		0	False		,,,				2504	0																1	Substitution - coding silent(1)	prostate(1)						G		19,4381	25.3+/-52.1	0,19,2181	190	175	180		1536	-6.3	0	16	dbSNP_132	180	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZP2	NM_003460.1		0,20,6480	AA,AG,GG		0.0116,0.4318,0.1538		512/746	21212848	20,12980	2200	4300	6500	SO:0001819	synonymous_variant	0			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.1536C>T	16.37:g.21212848G>A			B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.N512	ENST00000574002.1	37	c.1536	CCDS10596.1	16																																																																																			ZP2	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000103310		0.428	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2		0	41	0	G			21212848	-1			no_errors	ENST00000219593	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.012	A	A	21212848	G	A	21212848	2	1	177	1	0	0	0	0	0	0	0	1	18264	1136	40	1		1	ZP2	16	21212848	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	16203479	21212848	69141905	135	44144											
MYST1	84148	genome.wustl.edu	37	chr16	31131726	31131726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccaagacagtgaaggatgCtgtacagaagaactcagaga	17	5	12	7	0	1	5	1	1	0	4	1	8	1	6	1	1	3	2	1	1	5	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:31131726C>T	ENST00000543774.2	+	4	688	c.353C>T	c.(352-354)gCt>gTt	p.A118V	RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000448516.2_Missense_Mutation_p.A118V|KAT8_ENST00000219797.4_Missense_Mutation_p.A118V			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	118	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)										GTGAAGGATGCTGTACAGAAG	0.547																																																	0													64	59	61					16																	31131726		2197	4300	6497	SO:0001583	missense	0			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.353C>T	16.37:g.31131726C>T	ENSP00000456933:p.Ala118Val		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.A118V	ENST00000543774.2	37	c.353	CCDS10706.1	16	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097484	0.76870	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.41400	1.0;1.0	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	L	0.50333	1.59	0.80722	D	1	B;B	0.27594	0.03;0.182	B;B	0.21917	0.017;0.037	T	0.12066	-1.0562	10	0.22706	T	0.39	-16.3571	19.4154	0.94694	0.0:1.0:0.0:0.0	.	118;118	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	V	118	ENSP00000219797:A118V;ENSP00000406037:A118V	ENSP00000219797:A118V	A	+	2	0	KAT8	31039227	1.000000	0.71417	0.984000	0.44739	0.958000	0.62258	7.284000	0.78650	2.884000	0.98904	0.655000	0.94253	GCT	KAT8	-	superfamily_Chromodomain-like,smart_Chromo_domain/shadow	ENSG00000103510		0.547	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KAT8	HGNC	protein_coding	OTTHUMT00000255546.3	-	0	35	0	C	NM_032188		31131726	1	tier1	-	no_errors	ENST00000448516	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	31131726	C	T	31131726	3	4	177	1	0	0	0	0	1	0	0	0	10140	797	28	3	363	3	MYST1	16	31131726	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	9918878	31131726	59223027	136	44145											
ABCC12	94160	genome.wustl.edu	37	chr16	48125076	48125076	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggaggtgaatttggcttgCgtctctgttcccgttcgcac	5	13	12	11	4	1	1	0	1	1	0	4	2	2	2	1	3	1	4	1	3	1	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:48125076C>T	ENST00000311303.3	-	23	3585	c.3240G>A	c.(3238-3240)acG>acA	p.T1080T	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1080	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATTTGGCTTGCGTCTCTGTTC	0.532																																																	0													165	154	158					16																	48125076		2201	4300	6501	SO:0001819	synonymous_variant	0			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.3240G>A	16.37:g.48125076C>T			Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.T1080	ENST00000311303.3	37	c.3240	CCDS10730.1	16																																																																																			ABCC12	-	superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000140798		0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	-	0	17	0	C	NM_033226		48125076	-1	tier1	-	no_errors	ENST00000311303	ensembl	human	known	74_37	silent	33.33	16	8	SNP	1.000	T	T	48125076	C	T	48125076	2	4	177	1	0	0	0	0	0	0	0	1	52	755	27	1		1	ABCC12	16	48125076	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	16993350	48125076	42229677	137	44146											
MT1M	4499	genome.wustl.edu	37	chr16	56667708	56667708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgccaagtgtgcccacgGctgtgtctgcaaagggacgt	7	9	14	11	2	1	0	0	0	1	0	1	1	1	1	2	2	3	2	2	2	2	0			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:56667708G>A	ENST00000379818.3	+	3	639	c.140G>A	c.(139-141)gGc>gAc	p.G47D	AC026461.1_ENST00000600389.1_5'Flank|MT1JP_ENST00000564564.1_RNA	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	47	Alpha.				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)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						TGTGCCCACGGCTGTGTCTGC	0.592																																																	0													125	128	127					16																	56667708		2198	4300	6498	SO:0001583	missense	0			AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364		"Metallothioneins"	14296	protein-coding gene	gene with protein product		156357	"metallothionein 1K"	MT1, MT1K		2286373, 8049263	Standard	NM_176870		Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.140G>A	16.37:g.56667708G>A	ENSP00000369146:p.Gly47Asp		Q8TDN3	Missense_Mutation	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.G47D	ENST00000379818.3	37	c.140	CCDS42166.1	16	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415228	0.42817	.	.	ENSG00000205364	ENST00000379818	T	0.12774	2.65	2.41	1.36	0.22044	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.64402	U	0.000012	T	0.30166	0.0756	.	.	.	0.45541	D	0.998491	D	0.76494	0.999	D	0.74674	0.984	T	0.01472	-1.1346	9	0.54805	T	0.06	.	6.9645	0.24615	0.1498:0.0:0.8502:0.0	.	47	Q8N339	MT1M_HUMAN	D	47	ENSP00000369146:G47D	ENSP00000369146:G47D	G	+	2	0	MT1M	55225209	1.000000	0.71417	0.906000	0.35671	0.445000	0.32107	3.366000	0.52343	0.297000	0.22615	0.461000	0.40582	GGC	MT1M	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	ENSG00000205364		0.592	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1M	HGNC	protein_coding	OTTHUMT00000434359.1	-	0	59	0	G	NM_176870		56667708	1	tier1	-	no_errors	ENST00000379818	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	A	A	56667708	G	A	56667708	3	1	177	1	0	0	0	0	1	0	0	0	9941	1203	42	3	150	3	MT1M	16	56667708	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	8542632	56667708	33687045	138	44147											
CDH1	999	genome.wustl.edu	37	chr16	68849430	68849430	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctagggcttggattttGaggccaagcagcagtacatt	9	12	11	9	0	1	1	0	1	1	0	2	2	1	2	1	3	3	4	1	3	3	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:68849430G>T	ENST00000261769.5	+	10	1524	c.1333G>T	c.(1333-1335)Gag>Tag	p.E445*	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Nonsense_Mutation_p.E384*|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	445	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.G441_E463del(1)|p.L442fs*18(1)|p.?(1)|p.E445Q(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTGGATTTTGAGGCCAAGCA	0.418			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	4	Substitution - Missense(1)|Unknown(1)|Deletion - In frame(1)|Deletion - Frameshift(1)	breast(2)|lung(1)|stomach(1)											113	95	101					16																	68849430		2198	4300	6498	SO:0001587	stop_gained	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1333G>T	16.37:g.68849430G>T	ENSP00000261769:p.Glu445*		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E445*	ENST00000261769.5	37	c.1333	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	38	6.939905	0.97948	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	5.7	5.7	0.88788	.	0.000000	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.433	0.94779	0.0:0.0:1.0:0.0	.	.	.	.	X	445;463;445;384	.	ENSP00000261769:E445X	E	+	1	0	CDH1	67406931	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.549000	0.82163	2.694000	0.91930	0.555000	0.69702	GAG	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000039068		0.418	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	-	0	69	0	G	NM_004360		68849430	1	tier1	-	no_errors	ENST00000261769	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	1.000	T	T	68849430	G	T	68849430	4	4	177	1	0	0	0	0	0	1	0	0	3102	1291	45	3	1371	3	CDH1	16	68849430	Nonsense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	12181722	68849430	21505323	139	44148											
AARS	16	genome.wustl.edu	37	chr16	70301615	70301615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ttttcctgtccaggatgcgaCgccctctgctgagagtcttg	5	13	11	12	2	2	1	0	1	2	1	4	4	4	2	3	1	2	1	3	1	0	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:70301615C>T	ENST00000261772.8	-	9	1312	c.1169G>A	c.(1168-1170)cGt>cAt	p.R390H	AARS_ENST00000564359.1_5'Flank	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)		CAGGATGCGACGCCCTCTGCT	0.507											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													130	115	120					16																	70301615		2198	4300	6498	SO:0001583	missense	0			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.1169G>A	16.37:g.70301615C>T	ENSP00000261772:p.Arg390His	1121		Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.R390H	ENST00000261772.8	37	c.1169	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356912	0.82243	.	.	ENSG00000090861	ENST00000261772	T	0.57907	0.37	5.81	5.81	0.92471	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);	0.137899	0.64402	N	0.000002	T	0.60637	0.2284	M	0.73430	2.235	0.80722	D	1	P;P	0.51057	0.941;0.894	P;P	0.48627	0.584;0.584	T	0.57136	-0.7863	10	0.15499	T	0.54	-7.5278	17.5723	0.87937	0.0:1.0:0.0:0.0	.	398;390	E7ETK8;P49588	.;SYAC_HUMAN	H	390	ENSP00000261772:R390H	ENSP00000261772:R390H	R	-	2	0	AARS	68859116	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	7.786000	0.85741	2.736000	0.93811	0.655000	0.94253	CGT	AARS	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000090861		0.507	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	-	0	41	0	C	NM_001605		70301615	-1	tier1	-	no_errors	ENST00000261772	ensembl	human	known	74_37	missense	58.82	21	30	SNP	1.000	T	T	70301615	C	T	70301615	3	4	177	1	0	0	0	0	1	0	0	0	19	536	19	1	1789	1	AARS	16	70301615	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	1452185	70301615	20053138	140	44149											
CHST4	10164	genome.wustl.edu	37	chr16	71571633	71571633	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cgacttcagaaagcctgtggCgatgccatgaatttgctggg	9	10	13	9	2	1	2	1	1	0	1	1	4	1	2	2	2	3	1	2	2	2	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:71571633C>T	ENST00000338482.5	+	3	1396	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	CHST4_ENST00000539698.3_Silent_p.G351G|CHST4_ENST00000572450.1_Silent_p.G351G|ZNF19_ENST00000568446.1_Intron|RP11-510M2.5_ENST00000568523.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	351					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AAGCCTGTGGCGATGCCATGA	0.512											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61	58	59					16																	71571633		2198	4300	6498	SO:0001819	synonymous_variant	0			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.1053C>T	16.37:g.71571633C>T		1131	Q8IV46|Q9Y5R3	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.G351	ENST00000338482.5	37	c.1053	CCDS10902.1	16																																																																																			CHST4	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000140835		0.512	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	HGNC	protein_coding	OTTHUMT00000268992.4		0	26	0	C	NM_005769		71571633	1			no_errors	ENST00000338482	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.000	T	T	71571633	C	T	71571633	2	4	177	1	0	0	0	0	0	0	0	1	3413	755	27	1		1	CHST4	16	71571633	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	1270018	71571633	18783120	141	44150											
CLEC3A	10143	genome.wustl.edu	37	chr16	78062018	78062018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagacaaggatggagatCtgaagactcaaattgaaaag	17	6	10	8	0	2	5	1	2	1	3	2	7	2	6	2	2	0	0	2	2	5	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:78062018C>A	ENST00000575655.1	+	2	211	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	CLEC3A_ENST00000299642.4_Missense_Mutation_p.L53M|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	44					skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GGATGGAGATCTGAAGACTCA	0.443																																																	0													90	88	88					16																	78062018		2198	4300	6498	SO:0001583	missense	0			AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"C-type lectin domain containing"	2052	protein-coding gene	gene with protein product		613588	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.130C>A	16.37:g.78062018C>A	ENSP00000460682:p.Leu44Met		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L53M	ENST00000575655.1	37	c.157		16	.	.	.	.	.	.	.	.	.	.	C	18.27	3.585960	0.66105	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.84	5.84	0.93424	.	0.125013	0.56097	D	0.000037	T	0.57636	0.2067	L	0.43923	1.385	0.47009	D	0.999288	P	0.47350	0.894	B	0.43950	0.437	T	0.59150	-0.7508	9	0.52906	T	0.07	-7.862	19.7382	0.96215	0.0:1.0:0.0:0.0	.	44	O75596	CLC3A_HUMAN	M	44	.	ENSP00000299642:L44M	L	+	1	2	CLEC3A	76619519	0.996000	0.38824	1.000000	0.80357	0.799000	0.45148	3.008000	0.49544	2.769000	0.95229	0.561000	0.74099	CTG	CLEC3A	-	NULL	ENSG00000166509		0.443	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	CLEC3A	HGNC	protein_coding		-	0	69	0	C	NM_005752		78062018	1	tier1	-	no_errors	ENST00000299642	ensembl	human	known	74_37	missense	28.57	45	18	SNP	1.000	A	A	78062018	C	A	78062018	3	1	177	1	0	0	0	0	1	0	0	0	3517	912	32	3	136	3	CLEC3A	16	78062018	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	6490385	78062018	12292735	142	44151											
WWOX	51741	genome.wustl.edu	37	chr16	78458795	78458795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcttgtgtgcaacgcaGcaacttttgctctaccctgg	7	13	10	11	1	1	0	0	0	1	0	1	0	1	0	1	1	7	5	1	1	3	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:78458795G>A	ENST00000566780.1	+	7	1000	c.634G>A	c.(634-636)Gca>Aca	p.A212T	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A212T	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	212	Interaction with MAPT. {ECO:0000250}.|Mediates targeting to the mitochondria. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GTGCAACGCAGCAACTTTTGC	0.478																																																	0													299	301	301					16																	78458795		1948	4146	6094	SO:0001583	missense	0			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.634G>A	16.37:g.78458795G>A	ENSP00000457230:p.Ala212Thr		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH	p.A212T	ENST00000566780.1	37	c.634	CCDS42196.1	16	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150058	0.57151	.	.	ENSG00000186153	ENST00000408984;ENST00000299644	T	0.28895	1.59	5.55	5.55	0.83447	NAD(P)-binding domain (1);	0.056111	0.64402	D	0.000001	T	0.47801	0.1465	L	0.60012	1.86	0.47621	D	0.999475	B	0.27192	0.171	B	0.44085	0.44	T	0.49062	-0.8978	10	0.87932	D	0	.	19.5047	0.95110	0.0:0.0:1.0:0.0	.	212	Q9NZC7	WWOX_HUMAN	T	212;55	ENSP00000386161:A212T	ENSP00000299644:A55T	A	+	1	0	WWOX	77016296	1.000000	0.71417	0.801000	0.32222	0.472000	0.32918	8.578000	0.90777	2.585000	0.87301	0.655000	0.94253	GCA	WWOX	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	ENSG00000186153		0.478	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1		0	32	0	G			78458795	1			no_errors	ENST00000566780	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A	A	78458795	G	A	78458795	3	1	177	1	0	0	0	0	1	0	0	0	17463	971	34	3	722	3	WWOX	16	78458795	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	396777	78458795	11895958	143	44152											
DPEP1	1800	genome.wustl.edu	37	chr16	89702746	89702746	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctggagcagatggacgtGgtccaccgcatgtgccggat	8	7	15	11	4	0	1	0	0	0	1	1	4	1	4	3	4	2	3	3	4	0	0			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:89702746G>T	ENST00000393092.3	+	4	603	c.312G>T	c.(310-312)gtG>gtT	p.V104V	DPEP1_ENST00000421184.1_Silent_p.V104V|DPEP1_ENST00000261615.4_Silent_p.V104V	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	104					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)	AGATGGACGTGGTCCACCGCA	0.642																																																	0													64	53	57					16																	89702746		2183	4293	6476	SO:0001819	synonymous_variant	0				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.312G>T	16.37:g.89702746G>T			D3DX80|Q96AK2	Silent	SNP	pfam_Peptidase_M19	p.V104	ENST00000393092.3	37	c.312	CCDS10982.1	16																																																																																			DPEP1	-	pfam_Peptidase_M19	ENSG00000015413		0.642	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	HGNC	protein_coding	OTTHUMT00000423058.1		0	14	0	G	NM_001128141		89702746	1			no_errors	ENST00000261615	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.676	T	T	89702746	G	T	89702746	2	4	177	1	0	0	0	0	0	0	0	1	4727	1335	47	3		3	DPEP1	16	89702746	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	11243951	89702746	652007	144	44153											
SPATA2L	124044	genome.wustl.edu	37	chr16	89764175	89764175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcggcagctcctcagctGggggctcccaggcccggccc	3	5	14	19	2	1	0	1	0	0	0	3	0	3	0	5	5	3	4	5	5	0	0	rs369296594		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:89764175G>A	ENST00000289805.5	-	3	910	c.842C>T	c.(841-843)cCa>cTa	p.P281L	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	281										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CTCCTCAGCTGGGGGCTCCCA	0.697																																																	0								G	LEU/PRO	0,4350		0,0,2175	13	15	14		842	-2.2	0	16		14	1,8553		0,1,4276	no	missense	SPATA2L	NM_152339.3	98	0,1,6451	AA,AG,GG		0.0117,0.0,0.0077	benign	281/425	89764175	1,12903	2175	4277	6452	SO:0001583	missense	0			AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 76"	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.842C>T	16.37:g.89764175G>A	ENSP00000289805:p.Pro281Leu		D3DX85|Q8NHV3	Missense_Mutation	SNP	NULL	p.P281L	ENST00000289805.5	37	c.842	CCDS10985.1	16	.	.	.	.	.	.	.	.	.	.	G	8.147	0.786440	0.16189	0.0	1.17E-4	ENSG00000158792	ENST00000289805	.	.	.	4.42	-2.25	0.06888	.	1.407160	0.04532	N	0.386473	T	0.20251	0.0487	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21724	-1.0237	9	0.72032	D	0.01	.	1.6246	0.02720	0.226:0.1478:0.4764:0.1499	.	281	Q8IUW3	SPA2L_HUMAN	L	281	.	ENSP00000289805:P281L	P	-	2	0	SPATA2L	88291676	0.001000	0.12720	0.000000	0.03702	0.102000	0.19082	0.547000	0.23299	-0.670000	0.05282	0.462000	0.41574	CCA	SPATA2L	-	NULL	ENSG00000158792		0.697	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2L	HGNC	protein_coding	OTTHUMT00000269923.1	-	0	89	0	G	NM_152339		89764175	-1	tier1	-	no_errors	ENST00000289805	ensembl	human	known	74_37	missense	45.45	48	40	SNP	0.000	A	A	89764175	G	A	89764175	3	1	177	1	0	0	0	0	1	0	0	0	15056	1348	47	3	436	3	SPATA2L	16	89764175	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	61429	89764175	590578	145	44154											
ZBTB4	57659	genome.wustl.edu	37	chr17	7365493	7365493	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggccaagttactgaagttGtaagggtaggcggcaaggag	11	7	17	6	2	0	1	0	1	0	0	0	2	0	2	1	5	1	5	1	5	6	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:7365493G>T	ENST00000311403.4	-	4	3147	c.2808C>A	c.(2806-2808)taC>taA	p.Y936*	ZBTB4_ENST00000380599.4_Nonsense_Mutation_p.Y936*	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	936					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TACTGAAGTTGTAAGGGTAGG	0.607																																																	0													132	138	136					17																	7365493		2203	4300	6503	SO:0001587	stop_gained	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2808C>A	17.37:g.7365493G>T	ENSP00000307858:p.Tyr936*		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Nonsense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Y936*	ENST00000311403.4	37	c.2808	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	G	40	8.219524	0.98712	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	.	.	.	5.09	3.09	0.35607	.	0.199048	0.34507	N	0.003919	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2898	9.2174	0.37355	0.1736:0.0:0.8264:0.0	.	.	.	.	X	936	.	ENSP00000307858:Y936X	Y	-	3	2	ZBTB4	7306217	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.240000	0.51368	0.563000	0.29222	-0.291000	0.09656	TAC	ZBTB4	-	NULL	ENSG00000174282		0.607	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	-	0	92	0	G	NM_020899		7365493	-1	tier1	-	no_errors	ENST00000311403	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	1.000	T	T	7365493	G	T	7365493	4	4	177	1	0	0	0	0	0	1	0	0	17589	1372	48	3	237	3	ZBTB4	17	7365493	Nonsense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		7365493	73829717	146	44155											
TP53	7157	genome.wustl.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggcctcattcagctctcGgaacatctcgaagcgctcac	10	8	8	15	3	5	0	3	0	2	0	7	2	5	1	1	2	3	2	1	2	3	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	GRCh37	CM004908	TP53	M							62	48	53					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	0	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.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R342*	ENST00000269305.4	37	c.1024	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	27	0	G	NM_000546		7574003	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	50.00	8	8	SNP	0.307	A	A	7574003	G	A	7574003	4	1	177	1	0	0	0	0	0	1	0	0	16429	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	208510	7574003	73621207	147	44156											
MYO15A	51168	genome.wustl.edu	37	chr17	18022706	18022706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagccgcagcatctacGcgtcaggcgagcccctgggc	6	4	13	18	5	2	0	1	0	1	0	2	1	2	0	4	2	4	3	4	2	1	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:18022706G>A	ENST00000205890.5	+	2	930	c.592G>A	c.(592-594)Gcg>Acg	p.A198T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	198					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)					CAGCATCTACGCGTCAGGCGA	0.701																																																	0													22	25	24					17																	18022706		1960	4134	6094	SO:0001583	missense	0			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.592G>A	17.37:g.18022706G>A	ENSP00000205890:p.Ala198Thr		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.A198T	ENST00000205890.5	37	c.592	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901958	0.33535	.	.	ENSG00000091536	ENST00000205890	D	0.87650	-2.28	5.34	2.01	0.26516	.	.	.	.	.	T	0.73434	0.3586	N	0.19112	0.55	0.18873	N	0.999983	P	0.36535	0.557	B	0.22753	0.041	T	0.60311	-0.7288	9	0.54805	T	0.06	.	9.1987	0.37244	0.0:0.1113:0.3807:0.508	.	198	Q9UKN7	MYO15_HUMAN	T	198	ENSP00000205890:A198T	ENSP00000205890:A198T	A	+	1	0	MYO15A	17963431	0.057000	0.20700	0.029000	0.17559	0.158000	0.22134	1.093000	0.30939	0.105000	0.17753	-0.324000	0.08512	GCG	MYO15A	-	NULL	ENSG00000091536		0.701	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0	13	0	G	NM_016239		18022706	1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	70.00	3	7	SNP	0.071	A	A	18022706	G	A	18022706	3	1	177	1	0	0	0	0	1	0	0	0	10101	1087	38	1	594	1	MYO15A	17	18022706	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	10448703	18022706	63172504	148	44157											
NOS2	4843	genome.wustl.edu	37	chr17	26116636	26116636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgactcactgacctttccCgtctccacgaggggctgcgg	5	10	12	14	3	2	2	1	2	1	0	4	3	3	2	3	3	1	1	3	3	0	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:26116636C>T	ENST00000313735.6	-	3	422	c.189G>A	c.(187-189)acG>acA	p.T63T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	63					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)	TGACCTTTCCCGTCTCCACGA	0.572																																																	0													174	151	159					17																	26116636		2203	4300	6503	SO:0001819	synonymous_variant	0			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.189G>A	17.37:g.26116636C>T			A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.T63	ENST00000313735.6	37	c.189	CCDS11223.1	17																																																																																			NOS2	-	pirsf_NOS_euk	ENSG00000007171		0.572	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	-	0	15	0	C	NM_000625		26116636	-1	tier1	-	no_errors	ENST00000313735	ensembl	human	known	74_37	silent	31.58	13	6	SNP	0.000	T	T	26116636	C	T	26116636	2	4	177	1	0	0	0	0	0	0	0	1	10582	639	23	1		1	NOS2	17	26116636	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	8093930	26116636	55078574	149	44158											
SEZ6	124925	genome.wustl.edu	37	chr17	27332849	27332849	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccgtgagccaggagcgcCagcagcgagggcaggagcag	10	3	17	11	3	0	1	0	1	0	0	0	4	0	3	3	3	6	3	3	3	1	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:27332849C>A	ENST00000317338.12	-	1	467	c.39G>T	c.(37-39)ctG>ctT	p.L13L	SEZ6_ENST00000360295.9_Silent_p.L13L|SEZ6_ENST00000335960.6_Silent_p.L13L|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.L13L			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	13					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCAGGAGCGCCAGCAGCGAGG	0.776																																																	0													2	3	3					17																	27332849		1450	3255	4705	SO:0001819	synonymous_variant	0			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.39G>T	17.37:g.27332849C>A			B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.L13	ENST00000317338.12	37	c.39	CCDS45639.1	17																																																																																			SEZ6	-	NULL	ENSG00000063015		0.776	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6	HGNC	protein_coding	OTTHUMT00000397475.3		0	9	0	C			27332849	-1			no_errors	ENST00000317338	ensembl	human	known	74_37	silent	50.00	2	2	SNP	1.000	A	A	27332849	C	A	27332849	2	1	177	1	0	0	0	0	0	0	0	1	14187	581	21	3		3	SEZ6	17	27332849	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	1216213	27332849	53862361	150	44159											
KRT31	3881	genome.wustl.edu	37	chr17	39550305	39550305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tgcagggcccacagcgggggCgtggggcacagggtgtgcag	6	4	21	10	2	0	0	0	0	0	0	0	0	0	0	1	6	3	3	1	6	0	0			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:39550305C>T	ENST00000251645.2	-	7	1266	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	405	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.R405H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				ACAGCGGGGGCGTGGGGCACA	0.637																																																	2	Substitution - Missense(2)	lung(2)											68	60	63					17																	39550305		2203	4300	6503	SO:0001583	missense	0			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1214G>A	17.37:g.39550305C>T	ENSP00000251645:p.Arg405His		Q9UE12	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R405H	ENST00000251645.2	37	c.1214	CCDS11391.1	17	.	.	.	.	.	.	.	.	.	.	c	26.7	4.766879	0.90020	.	.	ENSG00000094796	ENST00000251645	D	0.82167	-1.58	5.52	5.52	0.82312	.	0.111520	0.40554	N	0.001061	D	0.90010	0.6881	M	0.72118	2.19	0.39246	D	0.963951	D	0.76494	0.999	D	0.76071	0.987	D	0.91097	0.4911	10	0.59425	D	0.04	.	14.9452	0.71026	0.0:1.0:0.0:0.0	.	405	Q15323	K1H1_HUMAN	H	405	ENSP00000251645:R405H	ENSP00000251645:R405H	R	-	2	0	KRT31	36803831	0.886000	0.30341	0.957000	0.39632	0.963000	0.63663	1.550000	0.36223	2.612000	0.88384	0.655000	0.94253	CGC	KRT31	-	NULL	ENSG00000094796		0.637	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	HGNC	protein_coding	OTTHUMT00000257286.1	-	0	17	0	C	NM_002277		39550305	-1	tier1	-	no_errors	ENST00000251645	ensembl	human	known	74_37	missense	79.00	21	79	SNP	0.974	T	T	39550305	C	T	39550305	3	4	177	1	0	0	0	0	1	0	0	0	8494	768	27	1	40	1	KRT31	17	39550305	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	12217456	39550305	41644905	151	44160											
BRCA1	672	genome.wustl.edu	37	chr17	41223241	41223241	+	Frame_Shift_Del	DEL	G	G	-																															gaggctgattccagattccaGgtaaggggttccctctgaaa																										TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:41223241delG	ENST00000357654.3	-	15	4808	c.4690delC	c.(4690-4692)ctgfs	p.L1564fs	BRCA1_ENST00000491747.2_Frame_Shift_Del_p.L460fs|BRCA1_ENST00000591534.1_Frame_Shift_Del_p.L55fs|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000351666.3_Frame_Shift_Del_p.L381fs|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.L1585fs|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.L1517fs|BRCA1_ENST00000309486.4_Frame_Shift_Del_p.L1268fs|BRCA1_ENST00000352993.3_Frame_Shift_Del_p.L422fs|BRCA1_ENST00000468300.1_Frame_Shift_Del_p.L460fs	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1564					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)		CCAGATTCCAGGTAAGGGGTT	0.428			"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													72	75	74					17																	41223241		2203	4300	6503	SO:0001589	frameshift_variant	0	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.4690delC	17.37:g.41223241delG	ENSP00000350283:p.Leu1564fs		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Del	DEL	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.L1585fs	ENST00000357654.3	37	c.4753	CCDS11453.1	17																																																																																			BRCA1	-	pirsf_BRCA1	ENSG00000012048		0.428	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2		0	55	0	G	NM_007294		41223241	-1	tier1		no_errors	ENST00000471181	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	0.104	-	-	41223241	G	-	41223241	7	5	177	1	0	1	0	1	0	0	0	0	1502	991	35	0	937	0	BRCA1	17	41223241	Frame_Shift_Del	DEL	G	TCGA-X8-AAAR-01A-11D-A403-09	1672936	41223241	39971969	152	44161											
TLK2	11011	genome.wustl.edu	37	chr17	60689902	60689902	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcatcaacctctggggcGtccaataacagttcttctaa	11	12	7	11	1	4	0	1	0	3	0	5	0	5	0	2	2	3	2	2	2	4	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:60689902G>A	ENST00000326270.9	+	23	2563	c.2295G>A	c.(2293-2295)gcG>gcA	p.A765A	TLK2_ENST00000582809.1_Silent_p.A594A|TLK2_ENST00000346027.5_Silent_p.A743A|TLK2_ENST00000542523.1_Silent_p.A711A|TLK2_ENST00000343388.7_Silent_p.A711A	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	765					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CCTCTGGGGCGTCCAATAACA	0.498																																																	0													55	48	51					17																	60689902		2203	4298	6501	SO:0001819	synonymous_variant	0			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.2295G>A	17.37:g.60689902G>A			D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A765	ENST00000326270.9	37	c.2295		17																																																																																			TLK2	-	superfamily_Kinase-like_dom	ENSG00000146872		0.498	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	-	0	51	0	G	NM_006852		60689902	1	tier1	-	no_errors	ENST00000326270	ensembl	human	known	74_37	silent	22.81	44	13	SNP	0.935	A	A	60689902	G	A	60689902	2	1	177	1	0	0	0	0	0	0	0	1	15991	1132	40	1		1	TLK2	17	60689902	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	19466661	60689902	20505308	153	44162											
DSG2	1829	genome.wustl.edu	37	chr18	29111132	29111132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaatttatgttagcgaGagcatggatagatcaagcaa	15	11	9	6	1	2	2	2	0	1	2	3	4	2	3	0	1	3	3	0	1	6	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr18:29111132G>T	ENST00000261590.8	+	9	1406	c.1197G>T	c.(1195-1197)gaG>gaT	p.E399D		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	399	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			ATGTTAGCGAGAGCATGGATA	0.403																																																	0													143	128	133					18																	29111132		1861	4109	5970	SO:0001583	missense	0			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.1197G>T	18.37:g.29111132G>T	ENSP00000261590:p.Glu399Asp		Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.E399D	ENST00000261590.8	37	c.1197	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037395	0.54896	.	.	ENSG00000046604	ENST00000261590	T	0.72051	-0.62	5.02	1.52	0.23074	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.79873	0.4521	M	0.69823	2.125	0.38177	D	0.939497	D	0.76494	0.999	D	0.74348	0.983	T	0.80874	-0.1187	10	0.62326	D	0.03	.	10.207	0.43118	0.3297:0.0:0.6703:0.0	.	399	Q14126	DSG2_HUMAN	D	399	ENSP00000261590:E399D	ENSP00000261590:E399D	E	+	3	2	DSG2	27365130	0.884000	0.30299	0.161000	0.22692	0.060000	0.15804	1.396000	0.34531	0.487000	0.27698	0.491000	0.48974	GAG	DSG2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000046604		0.403	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1	-	0	87	0	G	NM_001943		29111132	1	tier1	-	no_errors	ENST00000261590	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.051	T	T	29111132	G	T	29111132	3	4	177	1	0	0	0	0	1	0	0	0	4791	933	33	3	1231	3	DSG2	18	29111132	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		29111132	48966116	154	44163											
DSG2	1829	genome.wustl.edu	37	chr18	29111197	29111197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcttttgatgaggacactgGactaccagcccatgcaaggt	11	9	11	10	0	0	2	0	2	0	0	0	4	0	4	2	3	4	2	2	3	2	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr18:29111197G>T	ENST00000261590.8	+	9	1471	c.1262G>T	c.(1261-1263)gGa>gTa	p.G421V		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			GAGGACACTGGACTACCAGCC	0.348																																																	0													112	101	104					18																	29111197		1868	4100	5968	SO:0001583	missense	0			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.1262G>T	18.37:g.29111197G>T	ENSP00000261590:p.Gly421Val		Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.G421V	ENST00000261590.8	37	c.1262	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408298	0.42715	.	.	ENSG00000046604	ENST00000261590	T	0.56444	0.46	5.02	5.02	0.67125	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000025	T	0.77844	0.4191	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81870	-0.0734	10	0.62326	D	0.03	.	18.5187	0.90944	0.0:0.0:1.0:0.0	.	421	Q14126	DSG2_HUMAN	V	421	ENSP00000261590:G421V	ENSP00000261590:G421V	G	+	2	0	DSG2	27365195	1.000000	0.71417	0.977000	0.42913	0.168000	0.22595	3.114000	0.50383	2.606000	0.88127	0.491000	0.48974	GGA	DSG2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000046604		0.348	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1		0	71	0	G	NM_001943		29111197	1			no_errors	ENST00000261590	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.995	T	T	29111197	G	T	29111197	3	4	177	1	0	0	0	0	1	0	0	0	4791	1174	41	3	1296	3	DSG2	18	29111197	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	65	29111197	48966051	155	44164											
FHOD3	80206	genome.wustl.edu	37	chr18	34310636	34310636	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagatggaaaaaggcaaGagatcattgttctggattcc	13	10	11	7	0	2	2	1	0	1	2	3	5	3	4	1	3	1	3	1	3	3	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr18:34310636G>T	ENST00000359247.4	+	16	2869	c.2869G>T	c.(2869-2871)Gag>Tag	p.E957*	FHOD3_ENST00000590592.1_Nonsense_Mutation_p.E1149*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.E936*|FHOD3_ENST00000591635.1_Nonsense_Mutation_p.E170*|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000257209.4_Nonsense_Mutation_p.E974*	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	957	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAAAGGCAAGAGATCATTGT	0.403																																																	0													122	112	116					18																	34310636		2203	4300	6503	SO:0001587	stop_gained	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2869G>T	18.37:g.34310636G>T	ENSP00000352186:p.Glu957*		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Nonsense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.E974*	ENST00000359247.4	37	c.2920		18	.	.	.	.	.	.	.	.	.	.	G	41	9.147705	0.99080	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	18.1936	0.89814	0.0:0.0:1.0:0.0	.	.	.	.	X	974;957;936	.	ENSP00000257209:E974X	E	+	1	0	FHOD3	32564634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.680000	0.98651	2.629000	0.89072	0.557000	0.71058	GAG	FHOD3	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000134775		0.403	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	-	0	62	0	G	XM_371114		34310636	1	tier1	-	no_errors	ENST00000257209	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	T	T	34310636	G	T	34310636	4	4	177	1	0	0	0	0	0	1	0	0	5905	943	33	3	2986	3	FHOD3	18	34310636	Nonsense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	5199439	34310636	43766612	156	44165											
DSEL	92126	genome.wustl.edu	37	chr18	65180269	65180269	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcctcgccagtccacttaAgccactgcgcacattctccc	7	9	5	20	2	1	0	0	0	1	0	5	0	3	0	6	0	2	1	6	0	1	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr18:65180269A>G	ENST00000310045.7	-	2	3080	c.1607T>C	c.(1606-1608)cTt>cCt	p.L536P	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	526					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)				AGTCCACTTAAGCCACTGCGC	0.507																																																	0													90	79	83					18																	65180269		2203	4300	6503	SO:0001583	missense	0			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.1607T>C	18.37:g.65180269A>G	ENSP00000310565:p.Leu536Pro		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.L536P	ENST00000310045.7	37	c.1607	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	A	19.11	3.764040	0.69878	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.24723	1.84	5.67	5.67	0.87782	.	0.000000	0.64402	U	0.000004	T	0.53433	0.1796	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58470	-0.7631	10	0.87932	D	0	-11.471	15.578	0.76408	1.0:0.0:0.0:0.0	.	526	Q8IZU8	DSEL_HUMAN	P	536;526	ENSP00000310565:L536P	ENSP00000310565:L536P	L	-	2	0	DSEL	63331249	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.113000	0.94321	2.169000	0.68431	0.460000	0.39030	CTT	DSEL	-	NULL	ENSG00000171451		0.507	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	-	0	35	0	A	NM_032160		65180269	-1	tier1	-	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	56.41	17	22	SNP	1.000	G	G	65180269	A	G	65180269	3	3	177	1	0	0	0	0	1	0	0	0	4789	72	3	4	2065	4	DSEL	18	65180269	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	30869633	65180269	12896979	157	44166											
NETO1	81832	genome.wustl.edu	37	chr18	70451127	70451127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcatctcatagtccaaGaatcgtaagtaaatctataa	15	13	5	8	1	3	1	1	0	3	1	6	1	4	1	1	0	1	3	1	0	8	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr18:70451127G>T	ENST00000327305.6	-	7	1311	c.654C>A	c.(652-654)ttC>ttA	p.F218L	NETO1_ENST00000583169.1_Missense_Mutation_p.F218L|NETO1_ENST00000299430.2_Missense_Mutation_p.F217L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	218	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)		CATAGTCCAAGAATCGTAAGT	0.333																																																	0													90	89	89					18																	70451127		2203	4300	6503	SO:0001583	missense	0			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.654C>A	18.37:g.70451127G>T	ENSP00000313088:p.Phe218Leu		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.F218L	ENST00000327305.6	37	c.654	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862492	0.71949	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.24908	1.83;1.83	5.54	5.54	0.83059	CUB (5);	0.000000	0.64402	D	0.000005	T	0.31104	0.0786	M	0.76838	2.35	0.80722	D	1	P;B	0.50819	0.939;0.104	B;B	0.40940	0.344;0.131	T	0.23547	-1.0185	10	0.87932	D	0	-18.4955	11.2436	0.48982	0.1416:0.0:0.8584:0.0	.	217;218	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	L	218;217	ENSP00000313088:F218L;ENSP00000299430:F217L	ENSP00000299430:F217L	F	-	3	2	NETO1	68602107	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.454000	0.44979	2.748000	0.94277	0.650000	0.86243	TTC	NETO1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000166342		0.333	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2		0	13	0	G	NM_138999		70451127	-1			no_errors	ENST00000327305	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T	T	70451127	G	T	70451127	3	4	177	1	0	0	0	0	1	0	0	0	10378	933	33	3	963	3	NETO1	18	70451127	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	5270858	70451127	7626121	158	44167											
ATP8B3	148229	genome.wustl.edu	37	chr19	1806659	1806659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatctggcagggtctgttGttgatggctctgtcactctt	6	15	12	8	0	5	2	1	1	4	1	5	2	5	2	0	3	0	4	0	3	1	3	rs377352805		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:1806659G>T	ENST00000310127.6	-	7	883	c.645C>A	c.(643-645)aaC>aaA	p.N215K	ATP8B3_ENST00000526092.2_Missense_Mutation_p.N162K|ATP8B3_ENST00000539485.1_Missense_Mutation_p.N215K|ATP8B3_ENST00000525591.1_Missense_Mutation_p.N162K	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	215					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)		AGGGTCTGTTGTTGATGGCTC	0.667																																																	0								G	LYS/ASN,LYS/ASN	1,4061		0,1,2030	39	47	44		486,645	2.9	1	19		44	0,8286		0,0,4143	no	missense,missense	ATP8B3	NM_001178002.1,NM_138813.2	94,94	0,1,6173	TT,TG,GG		0.0,0.0246,0.0081	probably-damaging,probably-damaging	162/1264,215/1301	1806659	1,12347	2031	4143	6174	SO:0001583	missense	0			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.645C>A	19.37:g.1806659G>T	ENSP00000311336:p.Asn215Lys		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.N215K	ENST00000310127.6	37	c.645	CCDS45901.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.92|16.92	3.256627|3.256627	0.59321|0.59321	2.46E-4|2.46E-4	0.0|0.0	ENSG00000130270|ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339|ENST00000533993	D;D;D;D|.	0.84146|.	-1.81;-1.81;-1.81;-1.81|.	4.08|4.08	2.94|2.94	0.34122|0.34122	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83788|0.83788	0.5330|0.5330	H|H	0.97365|0.97365	3.99|3.99	0.36592|0.36592	D|D	0.874149|0.874149	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.992;0.999;0.999|.	D|D	0.88598|0.88598	0.3148|0.3148	10|5	0.87932|.	D|.	0|.	.|.	9.3619|9.3619	0.38201|0.38201	0.162:0.0:0.838:0.0|0.162:0.0:0.838:0.0	.|.	162;215;162|.	F5H3R9;O60423;Q7Z485|.	.;AT8B3_HUMAN;.|.	K|K	215;215;162;162;162|178	ENSP00000311336:N215K;ENSP00000443574:N215K;ENSP00000437115:N162K;ENSP00000445204:N162K|.	ENSP00000311336:N215K|.	N|T	-|-	3|2	2|0	ATP8B3|ATP8B3	1757659|1757659	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.636000|0.636000	0.38137|0.38137	4.613000|4.613000	0.61176|0.61176	1.808000|1.808000	0.52836|0.52836	0.561000|0.561000	0.74099|0.74099	AAC|ACA	ATP8B3	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000130270		0.667	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1		0	68	0	G	NM_138813		1806659	-1			no_errors	ENST00000539485	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	1806659	G	T	1806659	3	4	177	1	0	0	0	0	1	0	0	0	1197	1368	48	3	3397	3	ATP8B3	19	1806659	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		1806659	57322324	159	44168											
RANBP3	8498	genome.wustl.edu	37	chr19	5923297	5923297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccttggtgtaggcggctgCcgactcagccagggactctg	5	9	15	12	2	2	0	1	0	1	0	2	2	2	1	3	4	3	2	3	4	1	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:5923297C>T	ENST00000340578.6	-	13	1174	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	RANBP3_ENST00000439268.2_Missense_Mutation_p.A368T|RANBP3_ENST00000034275.8_Missense_Mutation_p.A305T|RANBP3_ENST00000541471.1_Missense_Mutation_p.A245T|RANBP3_ENST00000591092.1_Missense_Mutation_p.A300T	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	373					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						TAGGCGGCTGCCGACTCAGCC	0.542																																																	0													75	81	79					19																	5923297		1975	4162	6137	SO:0001583	missense	0			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.1117G>A	19.37:g.5923297C>T	ENSP00000341483:p.Ala373Thr		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.A373T	ENST00000340578.6	37	c.1117	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061885	0.76187	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.39592	1.11;1.11;1.84;1.07	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	M	0.81802	2.56	0.80722	D	1	B;B;B;B;B;B;B	0.33288	0.144;0.107;0.176;0.284;0.406;0.171;0.107	B;B;B;B;B;B;B	0.40659	0.064;0.079;0.079;0.181;0.336;0.165;0.079	T	0.52953	-0.8506	10	0.34782	T	0.22	-16.2662	17.0862	0.86611	0.0:1.0:0.0:0.0	.	245;368;245;300;305;368;373	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	T	373;368;305;304;245	ENSP00000341483:A373T;ENSP00000404837:A368T;ENSP00000034275:A305T;ENSP00000445071:A245T	ENSP00000034275:A305T	A	-	1	0	RANBP3	5874297	1.000000	0.71417	0.192000	0.23308	0.950000	0.60333	7.395000	0.79876	2.640000	0.89533	0.462000	0.41574	GCA	RANBP3	-	NULL	ENSG00000031823		0.542	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	-	0	40	0	C	NM_007322		5923297	-1	tier1	-	no_errors	ENST00000340578	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.998	T	T	5923297	C	T	5923297	3	4	177	1	0	0	0	0	1	0	0	0	13074	739	26	3	606	3	RANBP3	19	5923297	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	4116638	5923297	53205686	160	44169											
EMR1	2015	genome.wustl.edu	37	chr19	6901999	6901999	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaatccagcagtggccacTtgagtttccagggtctcaaa	10	11	10	10	0	1	2	1	2	1	0	4	2	3	2	3	2	1	2	3	2	2	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:6901999T>G	ENST00000312053.4	+	6	665	c.628T>G	c.(628-630)Ttg>Gtg	p.L210V	EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.L210V|EMR1_ENST00000381404.4_Missense_Mutation_p.L158V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	210	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAGTGGCCACTTGAGTTTCCA	0.478																																																	0													184	187	186					19																	6901999		2203	4300	6503	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.628T>G	19.37:g.6901999T>G	ENSP00000311545:p.Leu210Val		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.L210V	ENST00000312053.4	37	c.628	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	T	0.037	-1.299985	0.01364	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572	D;T;D	0.87412	-2.25;-1.18;-2.25	3.97	-7.95	0.01148	EGF-like calcium-binding (1);	.	.	.	.	T	0.73040	0.3536	L	0.43923	1.385	0.09310	N	1	B;B;B	0.13594	0.008;0.002;0.007	B;B;B	0.14578	0.007;0.005;0.011	T	0.57883	-0.7734	9	0.10902	T	0.67	.	1.9759	0.03415	0.2087:0.2975:0.3243:0.1695	.	210;158;210	Q14246-2;E9PD45;Q14246	.;.;EMR1_HUMAN	V	210;210;158;210	ENSP00000311545:L210V;ENSP00000370811:L158V;ENSP00000250572:L210V	ENSP00000250572:L210V	L	+	1	2	EMR1	6852999	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.914000	0.00697	-3.088000	0.00248	-0.479000	0.04858	TTG	EMR1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000174837		0.478	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	-	0	62	0	T			6901999	1	tier1	-	no_errors	ENST00000312053	ensembl	human	known	74_37	missense	31.58	52	24	SNP	0.000	G	G	6901999	T	G	6901999	3	3	177	1	0	0	0	0	1	0	0	0	5120	1606	56	4	650	4	EMR1	19	6901999	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	978702	6901999	52226984	161	44170											
MUC16	94025	genome.wustl.edu	37	chr19	9067623	9067623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagtaggctgggacagacGaataagattccttttcagaa	13	10	11	7	1	1	4	1	1	0	3	2	6	2	5	1	2	0	2	1	2	4	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:9067623G>A	ENST00000397910.4	-	3	20026	c.19823C>T	c.(19822-19824)tCg>tTg	p.S6608L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6610	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						TGGGACAGACGAATAAGATTC	0.443																																																	0													214	193	200					19																	9067623		1929	4135	6064	SO:0001583	missense	0			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.19823C>T	19.37:g.9067623G>A	ENSP00000381008:p.Ser6608Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S6608L	ENST00000397910.4	37	c.19823	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	6.161	0.397895	0.11696	.	.	ENSG00000181143	ENST00000397910	T	0.38560	1.13	2.36	2.36	0.29203	.	.	.	.	.	T	0.53061	0.1773	L	0.50333	1.59	.	.	.	D	0.89917	1.0	D	0.69824	0.966	T	0.63484	-0.6627	8	0.87932	D	0	.	8.4222	0.32707	0.0:0.0:1.0:0.0	.	6608	B5ME49	.	L	6608	ENSP00000381008:S6608L	ENSP00000381008:S6608L	S	-	2	0	MUC16	8928623	0.001000	0.12720	0.004000	0.12327	0.396000	0.30629	0.918000	0.28678	1.656000	0.50722	0.154000	0.16183	TCG	MUC16	-	NULL	ENSG00000181143		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	51	0	G	NM_024690		9067623	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	45.45	36	30	SNP	0.004	A	A	9067623	G	A	9067623	3	1	177	1	0	0	0	0	1	0	0	0	10011	1059	37	1	24028	1	MUC16	19	9067623	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	2165624	9067623	50061360	162	44171											
NOTCH3	4854	genome.wustl.edu	37	chr19	15271859	15271859	+	Frame_Shift_Del	DEL	G	G	-																															ggtccctgggttgagcagctGgggtcccggcgccagtggca																										TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:15271859delG	ENST00000263388.2	-	33	6655	c.6580delC	c.(6580-6582)cagfs	p.Q2194fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2194					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)			TTGAGCAGCTGGGGTCCCGGC	0.736																																																	0													3	5	4					19																	15271859		1904	3907	5811	SO:0001589	frameshift_variant	0			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.6580delC	19.37:g.15271859delG	ENSP00000263388:p.Gln2194fs		Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.Q2194fs	ENST00000263388.2	37	c.6580	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch	ENSG00000074181		0.736	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1		0	9	0	G	NM_000435		15271859	-1			no_errors	ENST00000263388	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.993	0	-	15271859	G	-	15271859	7	5	177	1	0	1	0	1	0	0	0	0	10589	1357	47	0	389	0	NOTCH3	19	15271859	Frame_Shift_Del	DEL	G	TCGA-X8-AAAR-01A-11D-A403-09	6204236	15271859	43857124	163	44172			1	49		2	2	12	N	G	6.822205e-05
NOTCH3	4854	genome.wustl.edu	37	chr19	15271870	15271870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagctggggtcccggcGccagtggcagcaggaacgag	8	4	18	11	3	0	1	0	1	0	0	1	3	1	2	2	5	4	4	2	5	1	0	rs528151296		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:15271870G>A	ENST00000263388.2	-	33	6644	c.6569C>T	c.(6568-6570)gCg>gTg	p.A2190V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2190					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)			GGGTCCCGGCGCCAGTGGCAG	0.726													G|||	1	0.000199681	0	0	5008	,	,		10547	0.001		0	False		,,,				2504	0																0													3	5	4					19																	15271870		1871	3845	5716	SO:0001583	missense	0			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.6569C>T	19.37:g.15271870G>A	ENSP00000263388:p.Ala2190Val		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A2190V	ENST00000263388.2	37	c.6569	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	7.893	0.732731	0.15507	.	.	ENSG00000074181	ENST00000263388	D	0.81821	-1.54	3.34	3.34	0.38264	.	.	.	.	.	T	0.61413	0.2345	N	0.19112	0.55	0.26270	N	0.978437	B	0.29612	0.251	B	0.14023	0.01	T	0.45673	-0.9245	9	0.07813	T	0.8	.	10.2417	0.43316	0.0:0.2033:0.7967:0.0	.	2190	Q9UM47	NOTC3_HUMAN	V	2190	ENSP00000263388:A2190V	ENSP00000263388:A2190V	A	-	2	0	NOTCH3	15132870	0.154000	0.22792	0.898000	0.35279	0.138000	0.21146	0.964000	0.29306	1.879000	0.54435	0.591000	0.81541	GCG	NOTCH3	-	pirsf_Notch	ENSG00000074181		0.726	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1		0	9	0	G	NM_000435		15271870	-1			no_errors	ENST00000263388	ensembl	human	known	74_37	missense	75.00	1	3	SNP	0.743	A	A	15271870	G	A	15271870	3	1	177	1	0	0	0	0	1	0	0	0	10589	1087	38	1	400	1	NOTCH3	19	15271870	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	11	15271870	43857113	164	44173			1	49		2	2	12	N	G	6.822205e-05
CRTC1	23373	genome.wustl.edu	37	chr19	18882281	18882281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagtaccgcactagCgccggctccccggccaacca	8	4	10	19	4	0	0	0	0	0	0	1	0	1	0	6	2	5	5	6	2	3	2	rs370433268		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:18882281C>T	ENST00000321949.8	+	11	1376	c.1350C>T	c.(1348-1350)agC>agT	p.S450S	CRTC1_ENST00000594658.1_Silent_p.S409S|CRTC1_ENST00000338797.6_Silent_p.S466S|CRTC1_ENST00000601916.1_Intron	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACCGCACTAGCGCCGGCTCCC	0.697																																																	0								C	,	1,4403	2.1+/-5.4	0,1,2201	53	56	55		1398,1350	-3.6	1	19		55	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	CRTC1	NM_001098482.1,NM_015321.2	,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	,	466/651,450/635	18882281	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	0			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.1350C>T	19.37:g.18882281C>T				Silent	SNP	NULL	p.S466	ENST00000321949.8	37	c.1398	CCDS32963.1	19																																																																																			CRTC1	-	NULL	ENSG00000105662		0.697	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	-	0	56	0	C	NM_025021		18882281	1	tier1	-	no_errors	ENST00000338797	ensembl	human	known	74_37	silent	26.25	58	21	SNP	0.997	T	T	18882281	C	T	18882281	2	4	177	1	0	0	0	0	0	0	0	1	3906	767	27	1		1	CRTC1	19	18882281	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	3610411	18882281	40246702	165	44174											
LPAR2	9170	genome.wustl.edu	37	chr19	19737605	19737605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggagtgggcaggcagCagccccaggcccagggcagc	8	2	17	14	0	0	0	0	0	0	0	0	1	0	1	4	5	4	4	4	5	0	0			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:19737605C>T	ENST00000542587.1	-	5	1391	c.489G>A	c.(487-489)ctG>ctA	p.L163L	LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000407877.3_Silent_p.L163L|LPAR2_ENST00000586703.1_Silent_p.L163L			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	163					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GGGCAGGCAGCAGCCCCAGGC	0.692																																																	0													25	21	23					19																	19737605		2197	4294	6491	SO:0001819	synonymous_variant	0			AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3168	protein-coding gene	gene with protein product		605110	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.489G>A	19.37:g.19737605C>T			O00543|O43431	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG4,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt	p.L163	ENST00000542587.1	37	c.489	CCDS12407.1	19																																																																																			LPAR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000064547		0.692	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	LPAR2	HGNC	protein_coding	OTTHUMT00000460544.1	-	0	33	0	C	NM_004720		19737605	-1	tier1	-	no_errors	ENST00000407877	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.963	T	T	19737605	C	T	19737605	2	4	177	1	0	0	0	0	0	0	0	1	8940	697	25	3		3	LPAR2	19	19737605	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	855324	19737605	39391378	166	44175											
ZNF790	388536	genome.wustl.edu	37	chr19	37310184	37310184	+	Silent	SNP	A	A	G	1	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	gtatgaattctctgatgctgAgttaggtgtgatccacgagt	9	14	12	6	1	1	4	0	4	1	0	3	5	2	4	1	1	1	3	1	1	3	3	rs556524944	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:37310184A>G	ENST00000356725.4	-	5	1182	c.1062T>C	c.(1060-1062)acT>acC	p.T354T	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	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			TCTGATGCTGAGTTAGGTGTG	0.388																																																	0													73	70	71					19																	37310184		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1062T>C	19.37:g.37310184A>G				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T354	ENST00000356725.4	37	c.1062	CCDS12496.1	19																																																																																			ZNF790	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197863		0.388	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	-	0	63	0	A	NM_206894		37310184	-1	tier1	-	no_errors	ENST00000356725	ensembl	human	known	74_37	silent	35.53	49	27	SNP	0.000	G	G	37310184	A	G	37310184	2	3	177	1	0	0	0	0	0	0	0	1	18210	291	11	4		4	ZNF790	19	37310184	Silent	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	17572579	37310184	21818799	167	44176											
ZNF607	84775	genome.wustl.edu	37	chr19	38189351	38189351	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacattccttacattcgtAgggtttctcagcgctatgaa	9	13	8	11	2	1	1	1	1	1	0	4	1	2	1	2	1	2	3	2	1	4	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:38189351A>G	ENST00000355202.4	-	5	2276	c.1681T>C	c.(1681-1683)Tac>Cac	p.Y561H	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.Y560H	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TTACATTCGTAGGGTTTCTCA	0.418																																																	0													43	41	42					19																	38189351		2203	4300	6503	SO:0001583	missense	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1681T>C	19.37:g.38189351A>G	ENSP00000347338:p.Tyr561His		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y561H	ENST00000355202.4	37	c.1681	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212061	0.58452	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.21734	1.99;1.99	2.08	2.08	0.27032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27798	0.0684	N	0.26130	0.795	0.09310	N	1	B;D	0.59357	0.378;0.985	B;D	0.63381	0.199;0.914	T	0.07947	-1.0746	9	0.72032	D	0.01	.	8.8823	0.35382	1.0:0.0:0.0:0.0	.	561;560	Q96SK3;F5H141	ZN607_HUMAN;.	H	561;560	ENSP00000347338:Y561H;ENSP00000438015:Y560H	ENSP00000347338:Y561H	Y	-	1	0	ZNF607	42881191	0.005000	0.15991	0.856000	0.33681	0.744000	0.42396	1.995000	0.40767	0.953000	0.37825	0.459000	0.35465	TAC	ZNF607	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.418	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	-	0	78	0	A	NM_032689		38189351	-1	tier1	-	no_errors	ENST00000355202	ensembl	human	known	74_37	missense	32.04	70	33	SNP	0.122	G	G	38189351	A	G	38189351	3	3	177	1	0	0	0	0	1	0	0	0	18081	420	15	4	413	4	ZNF607	19	38189351	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	879167	38189351	20939632	168	44177											
FBL	2091	genome.wustl.edu	37	chr19	40328462	40328462	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagagcggtgggagaactCgactgcatagactagaccat	12	6	13	10	2	0	4	0	0	0	4	1	6	0	4	2	2	3	1	2	2	3	2	rs138238941		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:40328462C>A	ENST00000221801.3	-	6	684	c.571G>T	c.(571-573)Gag>Tag	p.E191*	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	191	S-adenosyl-L-methionine binding.				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)		TGGGAGAACTCGACTGCATAG	0.453																																																	0													113	88	96					19																	40328462		2203	4300	6503	SO:0001587	stop_gained	0			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.571G>T	19.37:g.40328462C>A	ENSP00000221801:p.Glu191*		B5BUE8|O75259|Q6IAT5|Q9UPI6	Nonsense_Mutation	SNP	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	p.E191*	ENST00000221801.3	37	c.571	CCDS12545.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.546216	0.97654	.	.	ENSG00000105202	ENST00000221801	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.03	16.5575	0.84490	0.0:1.0:0.0:0.0	.	.	.	.	X	191	.	ENSP00000221801:E191X	E	-	1	0	FBL	45020302	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.294000	0.78760	2.501000	0.84356	0.561000	0.74099	GAG	FBL	-	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	ENSG00000105202		0.453	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBL	HGNC	protein_coding	OTTHUMT00000462509.4	-	0	25	0	C	NM_001436		40328462	-1	tier1	-	no_errors	ENST00000221801	ensembl	human	known	74_37	nonsense	43.90	23	18	SNP	1.000	A	A	40328462	C	A	40328462	4	1	177	1	0	0	0	0	0	1	0	0	5718	893	31	2	410	2	FBL	19	40328462	Nonsense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	2139111	40328462	18800521	169	44178											
CARD8	22900	genome.wustl.edu	37	chr19	48735737	48735737	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccctctgaagattcctGctcttctgatacactggagg	7	14	9	11	0	3	3	0	2	3	1	5	4	5	4	2	2	2	1	2	2	2	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:48735737G>T	ENST00000359009.4	-	4	389				ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000391898.3_Missense_Mutation_p.Q122K|CARD8_ENST00000520015.1_Missense_Mutation_p.Q122K|CARD8_ENST00000521613.1_Missense_Mutation_p.Q72K|CARD8_ENST00000447740.2_Missense_Mutation_p.Q72K|CARD8_ENST00000520153.1_Missense_Mutation_p.Q72K|CARD8_ENST00000520753.1_Missense_Mutation_p.Q122K|CARD8_ENST00000519940.1_Missense_Mutation_p.Q122K|CARD8_ENST00000357778.5_Intron			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GAAGATTCCTGCTCTTCTGAT	0.403																																																	0																																										SO:0001627	intron_variant	0			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.77-670C>A	19.37:g.48735737G>T			B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.Q122K	ENST00000359009.4	37	c.364		19	.	.	.	.	.	.	.	.	.	.	G	6.436	0.448654	0.12223	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T	0.15017	2.74;2.7;2.46;2.74;2.46;2.74;2.7	1.63	-0.91	0.10511	.	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B;B;B	0.23540	0.027;0.087;0.016	B;B;B	0.15870	0.002;0.014;0.003	T	0.40794	-0.9544	9	0.07482	T	0.82	.	3.6679	0.08262	0.0:0.2792:0.437:0.2838	.	122;122;72	E9PEM7;Q9Y2G2-3;G3XAM9	.;.;.	K	72;122;122;72;122;72;122	ENSP00000391248:Q72K;ENSP00000375767:Q122K;ENSP00000429839:Q122K;ENSP00000428736:Q72K;ENSP00000430747:Q122K;ENSP00000427858:Q72K;ENSP00000428883:Q122K	ENSP00000375767:Q122K	Q	-	1	0	CARD8	53427549	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.048000	0.11944	-0.161000	0.10983	-0.282000	0.10007	CAG	CARD8	-	NULL	ENSG00000105483		0.403	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	CARD8	HGNC	protein_coding		-	0	66	0	G	NM_014959		48735737	-1	tier1	-	no_errors	ENST00000391898	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T	T	48735737	G	T	48735737	1	4	177	0	1	0	0	0	0	0	0	0	2658	1328	46	3		3	CARD8	19	48735737	Intron	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	8407275	48735737	10393246	170	44179											
ZNF114	163071	genome.wustl.edu	37	chr19	48789139	48789139	+	Silent	SNP	A	A	G																															agttcccagcactccacattAagagaagactggagatgccc																										TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:48789139A>G	ENST00000595607.1	+	6	752	c.258A>G	c.(256-258)ttA>ttG	p.L86L	ZNF114_ENST00000597695.1_Silent_p.L52L|ZNF114_ENST00000315849.1_Silent_p.L86L|ZNF114_ENST00000600687.1_Silent_p.L86L			Q8NC26	ZN114_HUMAN	zinc finger protein 114	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ACTCCACATTAAGAGAAGACT	0.502																																																	0													77	69	71					19																	48789139		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"Zinc fingers, C2H2-type", "-"	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.258A>G	19.37:g.48789139A>G			A8K6B0|Q08AQ6	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L86	ENST00000595607.1	37	c.258	CCDS12713.1	19																																																																																			ZNF114	-	NULL	ENSG00000178150		0.502	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1		0	53	0	A	NM_153608		48789139	1			no_errors	ENST00000315849	ensembl	human	known	74_37	silent	25.00	30	10	SNP	0.000	G	G	48789139	A	G	48789139	2	3	177	1	0	0	0	0	0	0	0	1	17764	359	13	4		4	ZNF114	19	48789139	Silent	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	53402	48789139	10339844	171	44180	153	3									
ZNF114	163071	genome.wustl.edu	37	chr19	48789146	48789146	+	Missense_Mutation	SNP	G	G	A																															agcactccacattaagagaaGactggagatgccccaaaaca																										TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:48789146G>A	ENST00000595607.1	+	6	759	c.265G>A	c.(265-267)Gac>Aac	p.D89N	ZNF114_ENST00000597695.1_Missense_Mutation_p.D55N|ZNF114_ENST00000315849.1_Missense_Mutation_p.D89N|ZNF114_ENST00000600687.1_Missense_Mutation_p.D89N			Q8NC26	ZN114_HUMAN	zinc finger protein 114	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ATTAAGAGAAGACTGGAGATG	0.498																																																	0													77	69	71					19																	48789146		2203	4300	6503	SO:0001583	missense	0			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"Zinc fingers, C2H2-type", "-"	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.265G>A	19.37:g.48789146G>A	ENSP00000469998:p.Asp89Asn		A8K6B0|Q08AQ6	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D89N	ENST00000595607.1	37	c.265	CCDS12713.1	19	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650652	0.29336	.	.	ENSG00000178150	ENST00000315849	T	0.05081	3.5	1.82	-2.01	0.07410	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.30281	0.275	B	0.23419	0.046	T	0.46679	-0.9174	9	0.13853	T	0.58	.	3.3026	0.06988	0.4513:0.2185:0.3301:0.0	.	89	Q8NC26	ZN114_HUMAN	N	89	ENSP00000318898:D89N	ENSP00000318898:D89N	D	+	1	0	ZNF114	53480958	0.889000	0.30405	0.001000	0.08648	0.102000	0.19082	0.506000	0.22658	-0.424000	0.07382	0.411000	0.27672	GAC	ZNF114	-	NULL	ENSG00000178150		0.498	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1		0	49	0	G	NM_153608		48789146	1			no_errors	ENST00000315849	ensembl	human	known	74_37	missense	25.00	30	10	SNP	0.008	A	A	48789146	G	A	48789146	3	1	177	1	0	0	0	0	1	0	0	0	17764	942	33	3	275	3	ZNF114	19	48789146	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	7	48789146	10339837	172	44181	153	3									
ZNF114	163071	genome.wustl.edu	37	chr19	48789149	48789150	+	Missense_Mutation	DNP	TG	TG	CC																															actccacattaagagaagacTggagatgccccaaaacagag																										TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:48789149_48789150TG>CC	ENST00000595607.1	+	6	762_763	c.268_269TG>CC	c.(268-270)TGg>CCg	p.W90P	ZNF114_ENST00000597695.1_Missense_Mutation_p.W56P|ZNF114_ENST00000315849.1_Missense_Mutation_p.W90P|ZNF114_ENST00000600687.1_Missense_Mutation_p.W90P			Q8NC26	ZN114_HUMAN	zinc finger protein 114	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AAGAGAAGACTGGAGATGCCCC	0.485																																																	0																																										SO:0001583	missense	0			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"Zinc fingers, C2H2-type", "-"	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		Exception_encountered	19.37:g.48789149_48789150delinsCC	ENSP00000469998:p.Trp90Pro		A8K6B0|Q08AQ6	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W90R|p.W90S	ENST00000595607.1	37	c.268|c.269	CCDS12713.1	19																																																																																			ZNF114	-	NULL	ENSG00000178150		0.485	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1		0	49|48	0	T|G	NM_153608		48789149|48789150	1			no_errors	ENST00000315849	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.011|0.007	C	CC	48789150	TG	CC	48789149	3	2	177	1	0	0	0	0	1	0	0	0	17764	1580	55	4	278	4	ZNF114	19	48789149	Missense_Mutation	DNP	TG	TCGA-X8-AAAR-01A-11D-A403-09	3	48789149	10339834	173	44182	153	3									
ZNF320	162967	genome.wustl.edu	37	chr19	53385026	53385026	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctgtactactagtcaacTtttttatttctgtcatgggt	7	19	8	7	0	4	0	2	0	2	0	4	0	4	0	0	2	3	1	0	2	5	7			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:53385026T>G	ENST00000595635.1	-	8	854	c.353A>C	c.(352-354)aAg>aCg	p.K118T	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.K118T	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ACTAGTCAACTTTTTTATTTC	0.378																																																	0													143	140	141					19																	53385026		2203	4300	6503	SO:0001583	missense	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.353A>C	19.37:g.53385026T>G	ENSP00000473091:p.Lys118Thr		Q8NDR6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K118T	ENST00000595635.1	37	c.353	CCDS33095.1	19	.	.	.	.	.	.	.	.	.	.	-	5.310	0.242634	0.10077	.	.	ENSG00000182986	ENST00000391781	T	0.07567	3.18	1.18	-1.49	0.08718	.	.	.	.	.	T	0.06826	0.0174	L	0.51422	1.61	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.39702	-0.9601	9	0.51188	T	0.08	.	1.404	0.02276	0.3261:0.2475:0.0:0.4264	.	118	A2RRD8	ZN320_HUMAN	T	118	ENSP00000375660:K118T	ENSP00000375660:K118T	K	-	2	0	ZNF320	58076838	0.000000	0.05858	0.007000	0.13788	0.090000	0.18270	-1.941000	0.01542	-0.564000	0.06070	0.155000	0.16302	AAG	ZNF320	-	NULL	ENSG00000182986		0.378	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	-	0	101	0	T	NM_207333		53385026	-1	tier1	-	no_errors	ENST00000391781	ensembl	human	known	74_37	missense	38.02	75	46	SNP	0.017	G	G	53385026	T	G	53385026	3	3	177	1	0	0	0	0	1	0	0	0	17887	1609	56	4	1180	4	ZNF320	19	53385026	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	4595877	53385026	5743957	174	44183											
NLRP2	55655	genome.wustl.edu	37	chr19	55502000	55502000	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggtgaagtttctgtgtGagggcttgaggtaccccgag	7	10	17	7	1	1	3	0	3	1	0	1	4	1	3	2	4	1	3	2	4	2	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:55502000G>T	ENST00000543010.1	+	10	2811	c.2668G>T	c.(2668-2670)Gag>Tag	p.E890*	NLRP2_ENST00000263437.6_Nonsense_Mutation_p.E887*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.E890*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.E867*|NLRP2_ENST00000391721.4_Nonsense_Mutation_p.E866*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.E868*|NLRP2_ENST00000586512.1_3'UTR|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.E868*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.E866*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	890					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTTTCTGTGTGAGGGCTTGAG	0.577																																																	0													138	138	138					19																	55502000		2203	4300	6503	SO:0001587	stop_gained	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2668G>T	19.37:g.55502000G>T	ENSP00000445135:p.Glu890*		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E890*	ENST00000543010.1	37	c.2668	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042244	0.93685	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	.	.	.	2.31	1.26	0.21427	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	5.0612	0.14559	0.1743:0.0:0.8257:0.0	.	.	.	.	X	890;866;868;890;868;867;866;887	.	ENSP00000263437:E887X	E	+	1	0	NLRP2	60193812	0.884000	0.30299	0.460000	0.27093	0.109000	0.19521	1.015000	0.29963	0.525000	0.28522	0.561000	0.74099	GAG	NLRP2	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000022556		0.577	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1		0	74	0	G	NM_017852		55502000	1			no_errors	ENST00000448584	ensembl	human	known	74_37	nonsense	5.00	57	3	SNP	0.790	T	T	55502000	G	T	55502000	4	4	177	1	0	0	0	0	0	1	0	0	10516	1291	45	3	2702	3	NLRP2	19	55502000	Nonsense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	2116974	55502000	3626983	175	44184											
GGT7	2686	genome.wustl.edu	37	chr20	33447427	33447427	+	Missense_Mutation	SNP	T	T	C	0	1	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	acatgttgggtggcagctgtTcagccagggcacgggctagg	7	8	17	9	1	1	0	1	0	0	0	1	0	1	0	1	5	2	6	1	5	1	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr20:33447427T>C	ENST00000336431.5	-	7	877	c.833A>G	c.(832-834)gAa>gGa	p.E278G		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	278					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGGCAGCTGTTCAGCCAGGGC	0.692																																																	0													26	20	22					20																	33447427		2197	4297	6494	SO:0001583	missense	0			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.833A>G	20.37:g.33447427T>C	ENSP00000338964:p.Glu278Gly		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.E278G	ENST00000336431.5	37	c.833	CCDS13242.2	20	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617218	0.66672	.	.	ENSG00000131067	ENST00000336431	T	0.07021	3.23	5.65	5.65	0.86999	.	0.309626	0.35525	N	0.003159	T	0.07593	0.0191	L	0.31207	0.915	0.45634	D	0.99856	B;B	0.33777	0.425;0.425	B;B	0.31812	0.136;0.089	T	0.37502	-0.9703	10	0.33940	T	0.23	-10.2397	13.6175	0.62118	0.0:0.0:0.0:1.0	.	278;278	A4FU32;Q9UJ14	.;GGT7_HUMAN	G	278	ENSP00000338964:E278G	ENSP00000338964:E278G	E	-	2	0	GGT7	32911088	0.996000	0.38824	0.800000	0.32199	0.949000	0.60115	5.661000	0.68025	2.154000	0.67381	0.459000	0.35465	GAA	GGT7	-	pfam_GGT_peptidase	ENSG00000131067		0.692	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	-	0	56	0	T	NM_178026		33447427	-1	tier1	-	no_errors	ENST00000336431	ensembl	human	novel	74_37	missense	26.42	39	14	SNP	0.801	C	C	33447427	T	C	33447427	3	2	177	1	0	0	0	0	1	0	0	0	6390	1783	62	4	1191	4	GGT7	20	33447427	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09		33447427	29578093	176	44185											
ACSS2	55902	genome.wustl.edu	37	chr20	33508926	33508926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctcatgaagtttggaGatgagcctgtcaccaagtga	10	11	12	8	0	3	4	2	3	1	1	3	5	3	4	2	1	2	2	2	1	2	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr20:33508926G>T	ENST00000360596.2	+	10	1472	c.1261G>T	c.(1261-1263)Gat>Tat	p.D421Y	ACSS2_ENST00000336325.4_Missense_Mutation_p.D371Y|ACSS2_ENST00000253382.5_Missense_Mutation_p.D434Y|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	421					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)	p.D421N(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAAGTTTGGAGATGAGCCTGT	0.522																																																	1	Substitution - Missense(1)	lung(1)											183	166	172					20																	33508926		2203	4300	6503	SO:0001583	missense	0			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.1261G>T	20.37:g.33508926G>T	ENSP00000353804:p.Asp421Tyr		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D434Y	ENST00000360596.2	37	c.1300	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602167	0.66445	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.42513	0.97;0.97;0.97	5.53	5.53	0.82687	AMP-dependent synthetase/ligase (1);	0.225320	0.51477	D	0.000086	T	0.71626	0.3362	M	0.91818	3.245	0.48762	D	0.999708	P;P	0.51240	0.943;0.943	P;P	0.61275	0.823;0.886	T	0.77230	-0.2664	10	0.87932	D	0	-22.0296	19.6556	0.95837	0.0:0.0:1.0:0.0	.	434;421	Q5QPH3;Q9NR19	.;ACSA_HUMAN	Y	371;421;419;129;434	ENSP00000337190:D371Y;ENSP00000353804:D421Y;ENSP00000253382:D434Y	ENSP00000253382:D434Y	D	+	1	0	ACSS2	32972587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.360000	0.52299	2.882000	0.98803	0.655000	0.94253	GAT	ACSS2	-	pfam_AMP-dep_Synth/Lig	ENSG00000131069		0.522	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3		0	28	0	G	NM_018677		33508926	1			no_errors	ENST00000253382	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	33508926	G	T	33508926	3	4	177	1	0	0	0	0	1	0	0	0	189	942	33	3	1342	3	ACSS2	20	33508926	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	61499	33508926	29516594	177	44186											
LPIN3	64900	genome.wustl.edu	37	chr20	39983354	39983354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gatggtggttttcctggcgaCgcagggacttcctggccgag	5	10	16	10	3	0	0	0	0	0	0	2	4	2	1	3	5	0	2	3	5	0	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr20:39983354C>T	ENST00000373257.3	+	12	1688	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	533					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)				TTCCTGGCGACGCAGGGACTT	0.612																																																	0													73	65	68					20																	39983354		2203	4300	6503	SO:0001583	missense	0			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.1597C>T	20.37:g.39983354C>T	ENSP00000362354:p.Arg533Cys		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.R533C	ENST00000373257.3	37	c.1597	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	C	19.87	3.908239	0.72868	.	.	ENSG00000132793	ENST00000373257	D	0.81821	-1.54	5.21	3.15	0.36227	.	0.062472	0.56097	D	0.000025	D	0.88418	0.6431	M	0.84683	2.71	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.83275	0.975;0.996	D	0.87709	0.2565	9	.	.	.	-12.6653	8.043	0.30532	0.2767:0.6422:0.0:0.0811	.	534;533	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	C	533	ENSP00000362354:R533C	.	R	+	1	0	LPIN3	39416768	0.114000	0.22134	1.000000	0.80357	0.971000	0.66376	0.545000	0.23268	1.204000	0.43247	0.650000	0.86243	CGC	LPIN3	-	NULL	ENSG00000132793		0.612	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0	40	0	C	NM_022896		39983354	1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.997	T	T	39983354	C	T	39983354	3	4	177	1	0	0	0	0	1	0	0	0	8955	536	19	1	1639	1	LPIN3	20	39983354	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	6474428	39983354	23042166	178	44187											
TNNC2	7125	genome.wustl.edu	37	chr20	44453234	44453234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aactccttgacgctgatgtcCccaccaccatcagcatcaaa	12	8	5	16	1	2	2	2	2	0	0	4	2	4	2	5	0	2	2	5	0	2	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr20:44453234C>T	ENST00000372555.3	-	3	191	c.99G>A	c.(97-99)ggG>ggA	p.G33G	TNNC2_ENST00000372557.1_Silent_p.G18G	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	33	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CGCTGATGTCCCCACCACCAT	0.602																																																	0													108	83	92					20																	44453234		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"EF-hand domain containing"	11944	protein-coding gene	gene with protein product		191039	"troponin C2, fast"			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.99G>A	20.37:g.44453234C>T			Q6FH92	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.G33	ENST00000372555.3	37	c.99	CCDS13375.1	20																																																																																			TNNC2	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000101470		0.602	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC2	HGNC	protein_coding	OTTHUMT00000079524.3	-	0	47	0	C	NM_003279		44453234	-1	tier1	-	no_errors	ENST00000372555	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.981	T	T	44453234	C	T	44453234	2	4	177	1	0	0	0	0	0	0	0	1	16372	610	22	3		3	TNNC2	20	44453234	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	4469880	44453234	18572286	179	44188											
NRIP1	8204	genome.wustl.edu	37	chr21	16338230	16338230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttaggaatttgtaagtCatcacaaggctcagatttta	12	15	9	5	0	3	1	3	0	0	1	3	2	3	2	0	2	0	3	0	2	5	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:16338230C>A	ENST00000400202.1	-	3	2996	c.2284G>T	c.(2284-2286)Gac>Tac	p.D762Y	NRIP1_ENST00000400199.1_Missense_Mutation_p.D762Y|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.D762Y			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	762	Interaction with ZNF366.|Repression domain 3.				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)		ATTTGTAAGTCATCACAAGGC	0.433																																																	0													117	112	114					21																	16338230		2203	4300	6503	SO:0001583	missense	0			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.2284G>T	21.37:g.16338230C>A	ENSP00000383063:p.Asp762Tyr		Q8IWE8	Missense_Mutation	SNP	NULL	p.D762Y	ENST00000400202.1	37	c.2284	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893775	0.91889	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.12361	2.69;2.69;2.69	6.17	6.17	0.99709	.	0.186396	0.45361	D	0.000372	T	0.34395	0.0896	L	0.50333	1.59	0.54753	D	0.999989	D	0.76494	0.999	D	0.65874	0.939	T	0.00231	-1.1896	10	0.66056	D	0.02	-35.3353	20.8794	0.99867	0.0:1.0:0.0:0.0	.	762	P48552	NRIP1_HUMAN	Y	762	ENSP00000383060:D762Y;ENSP00000383063:D762Y;ENSP00000327213:D762Y	ENSP00000327213:D762Y	D	-	1	0	NRIP1	15260101	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.230000	0.65321	2.941000	0.99782	0.655000	0.94253	GAC	NRIP1	-	NULL	ENSG00000180530		0.433	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	-	0	34	0	C	NM_003489		16338230	-1	tier1	-	no_errors	ENST00000318948	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	A	A	16338230	C	A	16338230	3	1	177	1	0	0	0	0	1	0	0	0	10691	826	29	3	1196	3	NRIP1	21	16338230	Missense_Mutation	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09		16338230	31791665	180	44189											
ERG	2078	genome.wustl.edu	37	chr21	39947585	39947585	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagccaagacgggacttaCcttgatatgagctgctgggt	9	9	12	11	1	0	3	0	2	0	1	0	4	0	4	3	2	4	2	3	2	3	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:39947585C>T	ENST00000417133.2	-	3	225		c.e3+1		ERG_ENST00000485493.1_Splice_Site|ERG_ENST00000442448.1_Splice_Site|ERG_ENST00000398911.1_Splice_Site|ERG_ENST00000398897.1_Splice_Site|ERG_ENST00000398919.2_Splice_Site|ERG_ENST00000398910.1_Splice_Site	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog						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)	ACGGGACTTACCTTGATATGA	0.512			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													104	86	92					21																	39947585		2203	4300	6503	SO:0001630	splice_region_variant	0				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.39+1G>A	21.37:g.39947585C>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Splice_Site	SNP	-	e1+1	ENST00000417133.2	37	c.39+1	CCDS46648.1	21	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851345	0.71719	.	.	ENSG00000157554	ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000398919	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.396	0.83605	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERG	38869455	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.531000	0.60602	2.769000	0.95229	0.655000	0.94253	.	ERG	-	-	ENSG00000157554		0.512	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2	-	0	40	0	C	NM_182918	Intron	39947585	-1	tier1	-	no_errors	ENST00000398919	ensembl	human	known	74_37	splice_site	29.17	51	21	SNP	1.000	T	T	39947585	C	T	39947585	5	4	177	1	0	0	0	0	0	0	1	0	5238	521	18	3	1482	3	ERG	21	39947585	Splice_Site	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	23609355	39947585	8182310	181	44190											
DSCAM	1826	genome.wustl.edu	37	chr21	41561162	41561162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataggatgttatcatcgcaGgaactgaaaaagcaaaaggg	17	7	12	5	1	1	1	1	1	0	0	2	4	1	3	0	3	2	3	0	3	7	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:41561162G>T	ENST00000400454.1	-	12	2837	c.2360C>A	c.(2359-2361)cCt>cAt	p.P787H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	787	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)		p.P787H(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)				TATCATCGCAGGAACTGAAAA	0.473																																					Melanoma(134;970 1778 1785 21664 32388)												1	Substitution - Missense(1)	large_intestine(1)											68	66	67					21																	41561162		1940	4135	6075	SO:0001583	missense	0			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.2360C>A	21.37:g.41561162G>T	ENSP00000383303:p.Pro787His		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P787H	ENST00000400454.1	37	c.2360	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164677	0.57476	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.52295	0.67;0.67	5.28	5.28	0.74379	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059233	0.64402	D	0.000001	T	0.70081	0.3183	M	0.89163	3.01	0.58432	D	0.999999	D	0.65815	0.995	P	0.55667	0.781	T	0.77819	-0.2446	10	0.87932	D	0	.	18.9074	0.92467	0.0:0.0:1.0:0.0	.	787	O60469	DSCAM_HUMAN	H	787;539	ENSP00000383303:P787H;ENSP00000385342:P539H	ENSP00000383303:P787H	P	-	2	0	DSCAM	40483032	1.000000	0.71417	0.988000	0.46212	0.037000	0.13140	9.704000	0.98716	2.441000	0.82636	0.561000	0.74099	CCT	DSCAM	-	pfscan_Ig-like_dom	ENSG00000171587		0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0	31	0	G	NM_001389		41561162	-1	tier1	-	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	41561162	G	T	41561162	3	4	177	1	0	0	0	0	1	0	0	0	4782	1000	35	3	3766	3	DSCAM	21	41561162	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	1613577	41561162	6568733	182	44191											
C21orf2	755	genome.wustl.edu	37	chr21	45751827	45751828	+	Frame_Shift_Del	DEL	CT	CT	-																															gggccgccgtggcctgtgccCtctctctctggggccgcagt																										TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:45751827_45751828delCT	ENST00000339818.4	-	5	650_651	c.443_444delAG	c.(442-444)gagfs	p.E148fs	AP001062.7_ENST00000448927.1_RNA|AP001062.8_ENST00000422357.1_RNA|C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000325223.7_Frame_Shift_Del_p.E148fs|C21orf2_ENST00000397956.3_Frame_Shift_Del_p.E148fs	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	148					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)		GGCCTGTGCCCTCTCTCTCTGG	0.634																																																	0																																										SO:0001589	frameshift_variant	0			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.443_444delAG	21.37:g.45751835_45751836delCT	ENSP00000344566:p.Glu148fs		A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Frame_Shift_Del	DEL	smart_U2A'_phosphoprotein32A_C	p.E148fs	ENST00000339818.4	37	c.444_443	CCDS13709.1	21																																																																																			C21orf2	-	NULL	ENSG00000160226		0.634	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C21orf2	HGNC	protein_coding	OTTHUMT00000195799.1		0	21	0	CT	NM_004928		45751828	-1	tier1		no_errors	ENST00000339818	ensembl	human	known	74_37	frame_shift_del	43.48	13	10	DEL	0.003:0.003	-	-	45751828	CT	-	45751827	7	5	177	1	0	1	0	1	0	0	0	0	2130	680	24	0	338	0	C21orf2	21	45751827	Frame_Shift_Del	DEL	CT	TCGA-X8-AAAR-01A-11D-A403-09	4190665	45751827	2378068	183	44192											
KRTAP10-7	386675	genome.wustl.edu	37	chr21	46021043	46021043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctgctctgggatttcCtcttcgtgctgccagcagtc	3	14	10	14	1	3	0	0	0	3	0	6	1	4	1	3	1	4	3	3	1	0	2			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:46021043C>T	ENST00000380102.2	+	1	547	c.522C>T	c.(520-522)tcC>tcT	p.S174S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	174	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTGGGATTTCCTCTTCGTGCT	0.632																																																	0													54	59	57					21																	46021043		2190	4259	6449	SO:0001819	synonymous_variant	0			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.522C>T	21.37:g.46021043C>T			Q0VDJ8|Q70LJ2	Silent	SNP	NULL	p.S174	ENST00000380102.2	37	c.522		21																																																																																			KRTAP10-7	-	NULL	ENSG00000205441		0.632	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	HGNC	protein_coding	OTTHUMT00000128038.1		0	53	0	C	NM_198689		46021043	1			no_errors	ENST00000380102	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.000	T	T	46021043	C	T	46021043	2	4	177	1	0	0	0	0	0	0	0	1	8541	668	24	3		3	KRTAP10-7	21	46021043	Silent	SNP	C	TCGA-X8-AAAR-01A-11D-A403-09	269216	46021043	2108852	184	44193											
COL6A2	1292	genome.wustl.edu	37	chr21	47544826	47544826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcccccctggagaccccGgtctcacggtaggtgtcaca	6	6	12	17	3	2	1	2	0	1	1	3	2	2	1	6	5	0	1	6	5	1	1	rs139488626		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:47544826G>A	ENST00000300527.4	+	23	1866	c.1762G>A	c.(1762-1764)Ggt>Agt	p.G588S	COL6A2_ENST00000357838.4_Missense_Mutation_p.G588S|COL6A2_ENST00000397763.1_Missense_Mutation_p.G588S|COL6A2_ENST00000310645.5_Missense_Mutation_p.G588S|COL6A2_ENST00000409416.1_Missense_Mutation_p.G588S	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	588	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)		TGGAGACCCCGGTCTCACGGT	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		17711	0		0	False		,,,				2504	0																0								G	SER/GLY,SER/GLY,SER/GLY	3,4403	4.2+/-10.8	0,3,2200	46	45	45		1762,1762,1762	4.1	1	21	dbSNP_134	45	0,8596		0,0,4298	no	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	56,56,56	0,3,6498	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging	588/1020,588/919,588/829	47544826	3,12999	2203	4298	6501	SO:0001583	missense	0			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.1762G>A	21.37:g.47544826G>A	ENSP00000300527:p.Gly588Ser		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G588S	ENST00000300527.4	37	c.1762	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043218	0.75732	6.81E-4	0.0	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27;-6.27;-6.27	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	M	0.92555	3.32	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	0.99939	1.1392	10	0.24483	T	0.36	-21.7717	16.3666	0.83331	0.0:0.0:1.0:0.0	.	588;588;588	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	S	588;588;588;588;588;129	ENSP00000300527:G588S;ENSP00000350497:G588S;ENSP00000312529:G588S;ENSP00000387115:G588S;ENSP00000380870:G588S;ENSP00000395751:G129S	ENSP00000300527:G588S	G	+	1	0	COL6A2	46369254	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	7.647000	0.83462	1.856000	0.53863	0.591000	0.81541	GGT	COL6A2	-	NULL	ENSG00000142173		0.647	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0	51	0	G			47544826	1	tier1	rs139488626	no_errors	ENST00000300527	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	A	A	47544826	G	A	47544826	3	1	177	1	0	0	0	0	1	0	0	0	3707	1116	39	1	1848	1	COL6A2	21	47544826	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	1523783	47544826	585069	185	44194											
PCNT	5116	genome.wustl.edu	37	chr21	47786667	47786667	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggccagacaccaggccgcGttgggcgagctgacagcctc	8	4	15	14	3	0	2	0	1	0	1	1	4	0	2	4	3	2	2	4	3	0	1	rs149992133		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:47786667G>A	ENST00000359568.5	+	15	2885	c.2778G>A	c.(2776-2778)gcG>gcA	p.A926A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	926					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)					ACCAGGCCGCGTTGGGCGAGC	0.662																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	34	37	36		2778	1.7	0	21	dbSNP_134	36	0,8600		0,0,4300	no	coding-synonymous	PCNT	NM_006031.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		926/3337	47786667	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.2778G>A	21.37:g.47786667G>A			O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.A926	ENST00000359568.5	37	c.2778	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.662	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	-	0	22	0	G	NM_006031		47786667	1	tier1	rs149992133	no_errors	ENST00000359568	ensembl	human	known	74_37	silent	27.59	21	8	SNP	0.001	A	A	47786667	G	A	47786667	2	1	177	1	0	0	0	0	0	0	0	1	11629	1132	40	1		1	PCNT	21	47786667	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	241841	47786667	343228	186	44195											
CABIN1	23523	genome.wustl.edu	37	chr22	24460579	24460579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccatccaggtggaggcaGgggctgaacgaagagacatt	11	5	15	10	2	0	2	0	1	0	1	1	5	1	3	3	5	1	2	3	5	2	1			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr22:24460579G>T	ENST00000398319.2	+	15	2351	c.1966G>T	c.(1966-1968)Ggg>Tgg	p.G656W	CABIN1_ENST00000263119.5_Missense_Mutation_p.G656W|CABIN1_ENST00000405822.2_Missense_Mutation_p.G606W	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	656					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						GGTGGAGGCAGGGGCTGAACG	0.517																																																	0													204	181	189					22																	24460579		2203	4300	6503	SO:0001583	missense	0			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.1966G>T	22.37:g.24460579G>T	ENSP00000381364:p.Gly656Trp		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G656W	ENST00000398319.2	37	c.1966	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835742	0.32421	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.64803	0.09;-0.12;0.09	5.71	5.71	0.89125	.	0.501056	0.23815	N	0.044294	T	0.67702	0.2921	L	0.40543	1.245	0.42111	D	0.991387	D;D	0.67145	0.996;0.993	P;P	0.61874	0.895;0.787	T	0.69128	-0.5227	10	0.72032	D	0.01	.	10.7144	0.46005	0.1451:0.0:0.8549:0.0	.	606;656	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	W	656;606;656	ENSP00000263119:G656W;ENSP00000384694:G606W;ENSP00000381364:G656W	ENSP00000263119:G656W	G	+	1	0	CABIN1	22790579	0.357000	0.24938	0.030000	0.17652	0.044000	0.14063	3.643000	0.54374	2.880000	0.98712	0.650000	0.86243	GGG	CABIN1	-	NULL	ENSG00000099991		0.517	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2		0	37	0	G	NM_012295		24460579	1			no_errors	ENST00000263119	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.038	T	T	24460579	G	T	24460579	3	4	177	1	0	0	0	0	1	0	0	0	2535	1000	35	3	2020	3	CABIN1	22	24460579	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09		24460579	26843987	187	44196											
DEPDC5	9681	genome.wustl.edu	37	chr22	32270317	32270317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtactgcttcatcagcGcggaggtggtacactggttg	7	10	13	11	3	2	0	2	0	0	0	2	1	2	1	1	4	4	4	1	4	2	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr22:32270317G>A	ENST00000382112.3	+	35	3665	c.3595G>A	c.(3595-3597)Gcg>Acg	p.A1199T	DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.A1108T|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A1208T|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A1208T|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A1177T|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A1177T|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A1130T|DEPDC5_ENST00000539165.1_Missense_Mutation_p.A25T|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A1186T	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1208	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTTCATCAGCGCGGAGGTGGT	0.587																																																	0													46	50	49					22																	32270317		2075	4189	6264	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3595G>A	22.37:g.32270317G>A	ENSP00000371546:p.Ala1199Thr		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.A1186T	ENST00000382112.3	37	c.3556	CCDS46692.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.088043|5.088043	0.94100|0.94100	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165|ENST00000433147	T;T;T;T;T;T;T;T;T|.	0.34275|.	1.94;1.94;1.94;1.94;1.37;1.94;1.94;1.94;1.94|.	4.92|4.92	4.92|4.92	0.64577|0.64577	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74527|0.74527	0.3728|0.3728	M|M	0.71581|0.71581	2.175|2.175	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;0.999;0.996;0.998;0.997|.	T|T	0.74377|0.74377	-0.3685|-0.3685	10|5	0.26408|.	T|.	0.33|.	.|.	17.288|17.288	0.87147|0.87147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1208;1108;594;1186;1199;1177|.	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140|.	.;.;.;.;.;DEPD5_HUMAN|.	T|H	1108;1186;1177;1108;1208;1130;1199;1208;1177;25|583	ENSP00000440210:A1108T;ENSP00000266091:A1186T;ENSP00000383108:A1177T;ENSP00000383105:A1208T;ENSP00000371539:A1130T;ENSP00000371546:A1199T;ENSP00000371545:A1208T;ENSP00000383107:A1177T;ENSP00000446286:A25T|.	ENSP00000266091:A1186T|.	A|R	+|+	1|2	0|0	DEPDC5|DEPDC5	30600317|30600317	1.000000|1.000000	0.71417|0.71417	0.938000|0.938000	0.37757|0.37757	0.721000|0.721000	0.41392|0.41392	8.522000|8.522000	0.90573|0.90573	2.558000|2.558000	0.86282|0.86282	0.561000|0.561000	0.74099|0.74099	GCG|CGC	DEPDC5	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000100150		0.587	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	-	0	22	0	G	NM_014662		32270317	1	tier1	-	no_errors	ENST00000266091	ensembl	human	known	74_37	missense	35.00	13	7	SNP	1.000	A	A	32270317	G	A	32270317	3	1	177	1	0	0	0	0	1	0	0	0	4456	1087	38	1	3751	1	DEPDC5	22	32270317	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	7809738	32270317	19034249	188	44197											
SHANK3	85358	genome.wustl.edu	37	chr22	51159630	51159630	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctctggcctcccaggcGccctcccggtcccccacacc	4	5	9	23	3	1	0	0	0	1	0	4	1	4	0	7	3	1	1	7	3	0	0			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr22:51159630G>T	ENST00000414786.2	+	21	3554	c.3327G>T	c.(3325-3327)gcG>gcT	p.A1109A	SHANK3_ENST00000445220.2_Silent_p.A1125A|SHANK3_ENST00000262795.3_Silent_p.A1139A			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1123					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)	p.A232A(1)		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)		CCTCCCAGGCGCCCTCCCGGT	0.711																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											9	11	10					22																	51159630		1945	4098	6043	SO:0001819	synonymous_variant	0			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.3327G>T	22.37:g.51159630G>T			D7UT47|Q8TET3	Silent	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A1139	ENST00000414786.2	37	c.3417		22																																																																																			SHANK3	-	NULL	ENSG00000251322		0.711	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	-	0	25	0	G	NM_001080420		51159630	1	tier1	-	no_errors	ENST00000262795	ensembl	human	known	74_37	silent	53.85	12	14	SNP	0.443	T	T	51159630	G	T	51159630	2	4	177	1	0	0	0	0	0	0	0	1	14311	1074	38	2		2	SHANK3	22	51159630	Silent	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	18889313	51159630	144936	189	44198											
CYLC1	1538	genome.wustl.edu	37	chrX	83128459	83128459	+	Missense_Mutation	SNP	T	T	A	0	1	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	tagtttaaatgttgatttccTcatgttagtgggacagtctg	9	17	10	5	0	2	1	1	1	1	0	3	2	3	2	1	1	0	3	1	1	4	6			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chrX:83128459T>A	ENST00000329312.4	+	4	780	c.743T>A	c.(742-744)cTc>cAc	p.L248H		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	248					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GTTGATTTCCTCATGTTAGTG	0.313																																																	0													39	36	37					X																	83128459		2193	4291	6484	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.743T>A	X.37:g.83128459T>A	ENSP00000331556:p.Leu248His		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.L248H	ENST00000329312.4	37	c.743	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	t	11.20	1.568757	0.28003	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.50001	0.76	4.92	3.78	0.43462	.	.	.	.	.	T	0.45074	0.1324	L	0.36672	1.1	0.09310	N	1	D;D	0.61697	0.99;0.99	P;P	0.53313	0.723;0.723	T	0.23762	-1.0179	9	0.40728	T	0.16	1.966	5.6956	0.17853	0.0:0.1178:0.0:0.8821	.	248;248	P35663;F5H4V5	CYLC1_HUMAN;.	H	248	ENSP00000331556:L248H	ENSP00000331556:L248H	L	+	2	0	CYLC1	83015115	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.382000	0.20635	1.927000	0.55829	0.486000	0.48141	CTC	CYLC1	-	NULL	ENSG00000183035		0.313	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	-	0	29	0	T	NM_021118		83128459	1	tier1	-	no_errors	ENST00000329312	ensembl	human	known	74_37	missense	67.80	19	40	SNP	0.001	A	A	83128459	T	A	83128459	3	1	177	1	0	0	0	0	1	0	0	0	4150	1551	54	5	757	5	CYLC1	23	83128459	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09		83128459	72142101	190	44199											
PABPC5	140886	genome.wustl.edu	37	chrX	90690686	90690686	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaggacatgctctataagaAgttcaggcctgctggccctc	9	9	11	12	1	2	1	1	0	1	1	3	3	2	2	2	3	2	3	2	3	3	3			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chrX:90690686A>C	ENST00000312600.3	+	2	324	c.110A>C	c.(109-111)aAg>aCg	p.K37T	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	37	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTCTATAAGAAGTTCAGGCCT	0.572																																																	0													57	45	49					X																	90690686		2203	4300	6503	SO:0001583	missense	0			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.110A>C	X.37:g.90690686A>C	ENSP00000308012:p.Lys37Thr		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.K37T	ENST00000312600.3	37	c.110	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826377	0.50739	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.15372	2.43	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	N	0.20610	0.595	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.03025	-1.1081	10	0.54805	T	0.06	.	10.9829	0.47506	1.0:0.0:0.0:0.0	.	37	Q96DU9	PABP5_HUMAN	T	37;5	ENSP00000308012:K37T	ENSP00000308012:K37T	K	+	2	0	PABPC5	90577342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.747000	0.91610	1.957000	0.56846	0.486000	0.48141	AAG	PABPC5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000174740		0.572	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	-	0	28	0	A	NM_080832		90690686	1	tier1	-	no_errors	ENST00000312600	ensembl	human	known	74_37	missense	61.54	10	16	SNP	1.000	C	C	90690686	A	C	90690686	3	2	177	1	0	0	0	0	1	0	0	0	11406	72	3	4	112	4	PABPC5	23	90690686	Missense_Mutation	SNP	A	TCGA-X8-AAAR-01A-11D-A403-09	7562227	90690686	64579874	191	44200											
GRIA3	2892	genome.wustl.edu	37	chrX	122536894	122536894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatttgacacttatggacGtaggacaaattataccatcg	14	12	7	8	2	1	1	1	1	0	0	2	3	1	3	1	2	1	1	1	2	6	5			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chrX:122536894G>A	ENST00000371251.1	+	8	1182	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	GRIA3_ENST00000264357.5_Missense_Mutation_p.R377H|GRIA3_ENST00000542149.1_Missense_Mutation_p.R377H|GRIA3_ENST00000371256.5_Missense_Mutation_p.R377H|GRIA3_ENST00000541091.1_Missense_Mutation_p.R361H			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	377					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ACTTATGGACGTAGGACAAAT	0.343																																																	0													153	152	152					X																	122536894		2203	4299	6502	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1130G>A	X.37:g.122536894G>A	ENSP00000360297:p.Arg377His		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R377H	ENST00000371251.1	37	c.1130	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182551	0.57800	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	5.7	5.7	0.88788	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	L	0.31926	0.97	0.80722	D	1	P;D;D	0.89917	0.538;1.0;1.0	B;D;D	0.81914	0.222;0.995;0.991	D	0.88612	0.3157	10	0.45353	T	0.12	.	17.6583	0.88184	0.0:0.0:1.0:0.0	.	361;377;377	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	H	377;377;377;377;361	ENSP00000264357:R377H;ENSP00000446146:R377H;ENSP00000360302:R377H;ENSP00000360297:R377H;ENSP00000446440:R361H	ENSP00000264357:R377H	R	+	2	0	GRIA3	122364575	1.000000	0.71417	0.997000	0.53966	0.734000	0.41952	7.647000	0.83462	2.387000	0.81309	0.594000	0.82650	CGT	GRIA3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000125675		0.343	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	-	0	91	0	G	NM_000828		122536894	1	tier1	-	no_errors	ENST00000264357	ensembl	human	known	74_37	missense	75.19	33	100	SNP	1.000	A	A	122536894	G	A	122536894	3	1	177	1	0	0	0	0	1	0	0	0	6796	1145	40	1	1160	1	GRIA3	23	122536894	Missense_Mutation	SNP	G	TCGA-X8-AAAR-01A-11D-A403-09	31846208	122536894	32733666	192	44201											
DCAF12L1	139170	genome.wustl.edu	37	chrX	125685285	125685285	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcatctcaggccagttgTagcagtgggtgtagagcgca	8	10	14	9	1	2	1	2	0	1	1	3	1	2	1	1	2	2	6	1	2	2	4			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chrX:125685285T>G	ENST00000371126.1	-	1	1549	c.1307A>C	c.(1306-1308)tAc>tCc	p.Y436S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	436								p.Y436C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGGCCAGTTGTAGCAGTGGGT	0.557																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											125	120	122					X																	125685285		2203	4300	6503	SO:0001583	missense	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1307A>C	X.37:g.125685285T>G	ENSP00000360167:p.Tyr436Ser		Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y436S	ENST00000371126.1	37	c.1307	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	T	18.12	3.553337	0.65425	.	.	ENSG00000198889	ENST00000371126	T	0.34275	1.37	3.85	3.85	0.44370	.	0.000000	0.32769	N	0.005663	T	0.51415	0.1673	L	0.56280	1.765	0.43326	D	0.995351	D	0.89917	1.0	D	0.85130	0.997	T	0.51772	-0.8663	10	0.56958	D	0.05	.	10.1034	0.42519	0.0:0.0:0.0:1.0	.	436	Q5VU92	DC121_HUMAN	S	436	ENSP00000360167:Y436S	ENSP00000360167:Y436S	Y	-	2	0	DCAF12L1	125512966	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.993000	0.76245	1.745000	0.51790	0.417000	0.27973	TAC	DCAF12L1	-	NULL	ENSG00000198889		0.557	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0	43	0	T	NM_178470		125685285	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	missense	75.41	15	46	SNP	1.000	G	G	125685285	T	G	125685285	3	3	177	1	0	0	0	0	1	0	0	0	4273	1638	57	4	88	4	DCAF12L1	23	125685285	Missense_Mutation	SNP	T	TCGA-X8-AAAR-01A-11D-A403-09	3148391	125685285	29585275	193	44202											
PLAC1	10761	genome.wustl.edu	37	chrX	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G																															ggtgagccatggggacttttINSggggggcagcacatgacact																										TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)caafs	p.Q119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.53																																																	0																																										SO:0001589	frameshift_variant	0			AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"cancer/testis antigen 92"	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.356dupC	X.37:g.133700363_133700363dupG	ENSP00000352173:p.Gln119fs			Frame_Shift_Ins	INS	NULL	p.Q119fs	ENST00000359237.4	37	c.356_355	CCDS14642.1	X																																																																																			PLAC1	-	NULL	ENSG00000170965		0.53	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAC1	HGNC	protein_coding	OTTHUMT00000058375.1		0	26	0	-	NM_021796		133700358	-1	tier1		no_errors	ENST00000359237	ensembl	human	known	74_37	frame_shift_ins	39.39	20	13	INS	0.000:0.000	G	G	133700358	-	G	133700357	7	5	177	1	0	1	1	0	0	0	0	0	12051	1812	63	0	286	0	PLAC1	23	133700357	Frame_Shift_Ins	INS	-	TCGA-X8-AAAR-01A-11D-A403-09	8015072	133700357	21570203	194	44203											
SKI	6497	genome.wustl.edu	37	chr1	2160898	2160898	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggcaagtgtaaggggctGctggtgcccgagctctacag	7	9	15	10	2	1	0	0	0	1	0	2	1	1	0	1	4	4	5	1	4	3	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:2160898G>T	ENST00000378536.4	+	1	765	c.693G>T	c.(691-693)ctG>ctT	p.L231L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	231					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)		GTAAGGGGCTGCTGGTGCCCG	0.677																																					Ovarian(177;144 1678 13697 20086 27838 40755)												0													15	19	18					1																	2160898		2192	4277	6469	SO:0001819	synonymous_variant	0			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.693G>T	1.37:g.2160898G>T			Q5SYT7	Silent	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.L231	ENST00000378536.4	37	c.693	CCDS39.1	1																																																																																			SKI	-	pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like	ENSG00000157933		0.677	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	HGNC	protein_coding	OTTHUMT00000004070.1	-	0	51	0	G	NM_003036		2160898	1	tier1	-	no_errors	ENST00000378536	ensembl	human	known	74_37	silent	48.53	35	33	SNP	1.000	T	T	2160898	G	T	2160898	2	4	178	1	0	0	0	0	0	0	0	1	14402	1306	46	3		3	SKI	1	2160898	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09		2160898	247089723	1	44204											
MTOR	2475	genome.wustl.edu	37	chr1	11184628	11184628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgaagagctgcatcacacGctcatcctggcgcagatctt	9	8	10	14	3	3	2	2	0	1	2	4	3	4	2	2	1	2	4	2	1	1	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:11184628G>A	ENST00000361445.4	-	47	6665	c.6589C>T	c.(6589-6591)Cgt>Tgt	p.R2197C	MTOR_ENST00000376838.1_Missense_Mutation_p.R402C	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2197	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)	TGCATCACACGCTCATCCTGG	0.498																																																	0													133	113	120					1																	11184628		2203	4300	6503	SO:0001583	missense	0			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.6589C>T	1.37:g.11184628G>A	ENSP00000354558:p.Arg2197Cys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R2197C	ENST00000361445.4	37	c.6589	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875614	0.72180	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.77750	-1.12;-1.12	5.8	3.8	0.43715	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95473	0.8553	10	0.87932	D	0	-24.0327	13.1814	0.59657	0.0:0.0:0.5527:0.4473	.	2197	P42345	MTOR_HUMAN	C	2197;402	ENSP00000354558:R2197C;ENSP00000366034:R402C	ENSP00000354558:R2197C	R	-	1	0	MTOR	11107215	0.999000	0.42202	0.233000	0.24025	0.965000	0.64279	2.887000	0.48586	1.399000	0.46721	0.650000	0.86243	CGT	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000198793		0.498	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1		0	43	0	G	NM_004958		11184628	-1			no_errors	ENST00000361445	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.963	A	A	11184628	G	A	11184628	3	1	178	1	0	0	0	0	1	0	0	0	9992	1087	38	1	1108	1	MTOR	1	11184628	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	9023730	11184628	238065993	2	44205											
PADI4	23569	genome.wustl.edu	37	chr1	17657501	17657501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtccttcagcatcaacGcctccccaggggtggtcgtg	6	8	12	15	3	2	0	2	0	0	0	5	0	4	0	4	3	2	2	4	3	1	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:17657501G>A	ENST00000375448.4	+	2	156	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	PADI4_ENST00000375453.1_Missense_Mutation_p.A44T|AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	44					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)	CAGCATCAACGCCTCCCCAGG	0.617																																																	0													77	64	68					1																	17657501		2203	4300	6503	SO:0001583	missense	0			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.130G>A	1.37:g.17657501G>A	ENSP00000364597:p.Ala44Thr		A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.A44T	ENST00000375448.4	37	c.130	CCDS180.1	1	.	.	.	.	.	.	.	.	.	.	a	12.64	1.998957	0.35226	.	.	ENSG00000159339	ENST00000375453;ENST00000358829;ENST00000375448	T;T	0.10099	2.91;2.91	5.32	2.44	0.29823	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.350736	0.27749	N	0.018008	T	0.12603	0.0306	M	0.71581	2.175	0.09310	N	1	B;B	0.19935	0.04;0.04	B;B	0.16722	0.016;0.016	T	0.18147	-1.0346	10	0.49607	T	0.09	-15.0969	7.418	0.27055	0.2724:0.0:0.7276:0.0	.	44;44	A8K392;Q9UM07	.;PADI4_HUMAN	T	44	ENSP00000364602:A44T;ENSP00000364597:A44T	ENSP00000351690:A44T	A	+	1	0	PADI4	17530088	0.075000	0.21258	0.005000	0.12908	0.001000	0.01503	1.242000	0.32755	0.333000	0.23563	-0.213000	0.12676	GCC	PADI4	-	pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	ENSG00000159339		0.617	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI4	HGNC	protein_coding	OTTHUMT00000006799.1	-	0	68	0	G	NM_012387		17657501	1	tier1	-	no_errors	ENST00000375448	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.008	A	A	17657501	G	A	17657501	3	1	178	1	0	0	0	0	1	0	0	0	11419	1087	38	1	136	1	PADI4	1	17657501	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	6472873	17657501	231593120	3	44206											
TAS1R2	80834	genome.wustl.edu	37	chr1	19180792	19180792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgggccacagcatagaccGcagagtacacgctgtagacg	12	5	12	12	3	0	3	0	0	0	3	0	3	0	3	2	1	2	5	2	1	3	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:19180792G>A	ENST00000375371.3	-	3	1193	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	391					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)	AGCATAGACCGCAGAGTACAC	0.607																																																	0													101	90	93					1																	19180792		2203	4300	6503	SO:0001583	missense	0				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.1172C>T	1.37:g.19180792G>A	ENSP00000364520:p.Ala391Val		Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.A391V	ENST00000375371.3	37	c.1172	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137616	0.56936	.	.	ENSG00000179002	ENST00000375371	D	0.94497	-3.44	4.31	4.31	0.51392	Extracellular ligand-binding receptor (1);	0.508750	0.16419	N	0.215258	D	0.97445	0.9164	M	0.91300	3.195	0.53005	D	0.999962	D	0.76494	0.999	D	0.63597	0.916	D	0.98139	1.0435	10	0.87932	D	0	.	14.3114	0.66419	0.0:0.0:1.0:0.0	.	391	Q8TE23	TS1R2_HUMAN	V	391	ENSP00000364520:A391V	ENSP00000364520:A391V	A	-	2	0	TAS1R2	19053379	1.000000	0.71417	0.146000	0.22360	0.111000	0.19643	8.987000	0.93497	2.230000	0.72887	0.462000	0.41574	GCG	TAS1R2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000179002		0.607	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	-	0	45	0	G			19180792	-1	tier1	-	no_errors	ENST00000375371	ensembl	human	novel	74_37	missense	12.50	35	5	SNP	0.927	A	A	19180792	G	A	19180792	3	1	178	1	0	0	0	0	1	0	0	0	15610	1087	38	1	1363	1	TAS1R2	1	19180792	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	1523291	19180792	230069829	4	44207											
HNRNPR	10236	genome.wustl.edu	37	chr1	23645059	23645059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccacacttttacttttcCactcatcagccggcgtctgg	6	13	6	16	2	3	0	2	0	1	0	5	0	5	0	4	2	2	0	4	2	1	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:23645059C>T	ENST00000374612.1	-	8	1057	c.934G>A	c.(934-936)Gga>Aga	p.G312R	HNRNPR_ENST00000426846.2_Missense_Mutation_p.G152R|HNRNPR_ENST00000374616.3_Missense_Mutation_p.G315R|HNRNPR_ENST00000302271.6_Missense_Mutation_p.G312R|HNRNPR_ENST00000478691.1_Missense_Mutation_p.G214R|HNRNPR_ENST00000606561.1_Missense_Mutation_p.G173R|HNRNPR_ENST00000427764.2_Missense_Mutation_p.G274R	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	312	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTACTTTTCCACTCATCAGC	0.463																																																	0													130	124	126					1																	23645059		2203	4300	6503	SO:0001583	missense	0			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.934G>A	1.37:g.23645059C>T	ENSP00000363741:p.Gly312Arg		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.G315R	ENST00000374612.1	37	c.943	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.285242	0.95517	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.27557	1.69;1.66;1.66;1.91;2.52	5.84	5.84	0.93424	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	M	0.64567	1.98	0.80722	D	1	D;D;D;D;P;D	0.89917	0.998;1.0;1.0;1.0;0.954;0.998	D;D;D;D;P;D	0.97110	0.994;1.0;0.998;1.0;0.87;0.984	T	0.54964	-0.8214	10	0.87932	D	0	.	18.7104	0.91655	0.0:1.0:0.0:0.0	.	152;274;173;292;312;315	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	R	315;312;312;274;152	ENSP00000363745:G315R;ENSP00000363741:G312R;ENSP00000304405:G312R;ENSP00000392799:G274R;ENSP00000415042:G152R	ENSP00000304405:G312R	G	-	1	0	HNRNPR	23517646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.779000	0.95612	0.591000	0.81541	GGA	HNRNPR	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000125944		0.463	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	-	0	65	0	C	NM_005826		23645059	-1	tier1	-	no_errors	ENST00000374616	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	T	T	23645059	C	T	23645059	3	4	178	1	0	0	0	0	1	0	0	0	7299	603	21	3	983	3	HNRNPR	1	23645059	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	4464267	23645059	225605562	5	44208											
FAM46B	115572	genome.wustl.edu	37	chr1	27332675	27332675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgttgaccacccggtgCagtgtcaccaggcaggcgta	7	8	12	14	3	2	1	1	1	1	0	3	1	2	1	3	3	1	4	3	3	1	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:27332675C>T	ENST00000289166.5	-	2	1203	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	346										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)		CCACCCGGTGCAGTGTCACCA	0.672																																																	0													25	23	24					1																	27332675		2200	4299	6499	SO:0001819	synonymous_variant	0			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.1038G>A	1.37:g.27332675C>T				Silent	SNP	pfam_DUF1693	p.L346	ENST00000289166.5	37	c.1038	CCDS294.2	1																																																																																			FAM46B	-	pfam_DUF1693	ENSG00000158246		0.672	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	HGNC	protein_coding	OTTHUMT00000012347.2		0	29	0	C	NM_052943		27332675	-1			no_errors	ENST00000289166	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.999	T	T	27332675	C	T	27332675	2	4	178	1	0	0	0	0	0	0	0	1	5588	697	25	3		3	FAM46B	1	27332675	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	3687616	27332675	221917946	6	44209											
TINAGL1	64129	genome.wustl.edu	37	chr1	32052456	32052456	+	Frame_Shift_Del	DEL	G	G	-																															ccagactgcggccaactcctGgggcccagcctggggcgaga																										TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:32052456delG	ENST00000271064.7	+	12	1356	c.1280delG	c.(1279-1281)tggfs	p.W427fs	TINAGL1_ENST00000457433.2_Frame_Shift_Del_p.W396fs|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	427					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		GCCAACTCCTGGGGCCCAGCC	0.692																																																	0													15	18	17					1																	32052456		2182	4271	6453	SO:0001589	frameshift_variant	0			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"lipocalin 7", "TINAG-like 1"	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.1280delG	1.37:g.32052456delG	ENSP00000271064:p.Trp427fs		A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Frame_Shift_Del	DEL	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.G428fs	ENST00000271064.7	37	c.1280	CCDS343.1	1																																																																																			TINAGL1	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000142910		0.692	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAGL1	HGNC	protein_coding	OTTHUMT00000011072.1		0	61	0	G	NM_022164		32052456	1	tier1		no_errors	ENST00000271064	ensembl	human	known	74_37	frame_shift_del	13.51	64	10	DEL	1.000	-	-	32052456	G	-	32052456	7	5	178	1	0	1	0	1	0	0	0	0	15969	1357	47	0	1322	0	TINAGL1	1	32052456	Frame_Shift_Del	DEL	G	TCGA-XP-A8T6-01A-11D-A36J-09	4719781	32052456	217198165	7	44210											
MACF1	23499	genome.wustl.edu	37	chr1	39951437	39951437	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctaagaagaccaccactgccTcccccaggactccaggtccc	10	5	7	19	0	0	2	0	0	0	2	3	3	3	3	7	2	1	0	7	2	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:39951437T>C	ENST00000372915.3	+	97	22225	c.22138T>C	c.(22138-22140)Tcc>Ccc	p.S7380P	MACF1_ENST00000361689.2_Missense_Mutation_p.S5422P|MACF1_ENST00000289893.4_Missense_Mutation_p.S5930P|MACF1_ENST00000539005.1_Missense_Mutation_p.S5292P|MACF1_ENST00000567887.1_Missense_Mutation_p.S7584P|MACF1_ENST00000545844.1_Missense_Mutation_p.S5422P|MACF1_ENST00000317713.7_Missense_Mutation_p.S5422P|MACF1_ENST00000564288.1_Missense_Mutation_p.S7547P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7380	C-terminal tail. {ECO:0000250}.				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)			CACCACTGCCTCCCCCAGGAC	0.512																																																	0													68	70	69					1																	39951437		2203	4300	6503	SO:0001583	missense	0			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.22138T>C	1.37:g.39951437T>C	ENSP00000362006:p.Ser7380Pro		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.S5422P	ENST00000372915.3	37	c.16264		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.13|13.13	2.146444|2.146444	0.37923|0.37923	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218	.|T;T;T;T;T;T	.|0.64803	.|-0.08;-0.03;-0.08;-0.12;0.09;1.07	5.7|5.7	3.26|3.26	0.37387|0.37387	.|.	.|0.114420	.|0.38897	.|N	.|0.001527	T|T	0.61173|0.61173	0.2326|0.2326	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|D;B;D;P	.|0.61697	.|0.99;0.003;0.99;0.593	.|P;B;P;B	.|0.55615	.|0.78;0.006;0.78;0.243	T|T	0.58763|0.58763	-0.7579|-0.7579	5|9	.|.	.|.	.|.	.|.	5.0837|5.0837	0.14671|0.14671	0.3107:0.0857:0.0:0.6036|0.3107:0.0857:0.0:0.6036	.|.	.|7380;5422;5930;359	.|Q9UPN3;F8W8Q1;Q96PK2;B1ANQ7	.|MACF1_HUMAN;.;MACF4_HUMAN;.	P|P	4425;446|5422;7380;5422;5422;5292;5930;336	.|ENSP00000439537:S5422P;ENSP00000362006:S7380P;ENSP00000354573:S5422P;ENSP00000313438:S5422P;ENSP00000444364:S5292P;ENSP00000289893:S5930P	.|.	L|S	+|+	2|1	0|0	MACF1|MACF1	39724024|39724024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.574000|0.574000	0.36063|0.36063	2.955000|2.955000	0.49121|0.49121	0.991000|0.991000	0.38814|0.38814	-0.256000|-0.256000	0.11100|0.11100	CTC|TCC	MACF1	-	NULL	ENSG00000127603		0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0	61	0	T	NM_033044		39951437	1			no_errors	ENST00000317713	ensembl	human	known	74_37	missense	7.35	63	5	SNP	0.999	C	C	39951437	T	C	39951437	3	2	178	1	0	0	0	0	1	0	0	0	9180	1551	54	4	22811	4	MACF1	1	39951437	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	7898981	39951437	209299184	8	44211											
CACHD1	57685	genome.wustl.edu	37	chr1	65143953	65143953	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcttcggggggattgtGggagccaaaagtccctacgt	9	9	15	8	2	0	0	0	0	0	0	2	3	1	2	2	4	3	1	2	4	4	3	rs368444781	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:65143953G>A	ENST00000371073.2	+	23	3204	c.3204G>A	c.(3202-3204)gtG>gtA	p.V1068V	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.V1017V			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1068					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						GGGGGATTGTGGGAGCCAAAA	0.473													G|||	3	0.000599042	0.0023	0	5008	,	,		17250	0		0	False		,,,				2504	0																0								G		4,4402	8.1+/-20.4	0,4,2199	94	96	96		3051	2.2	1	1		96	0,8600		0,0,4300	no	coding-synonymous	CACHD1	NM_020925.2		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		1017/1224	65143953	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			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.3204G>A	1.37:g.65143953G>A			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.V1068	ENST00000371073.2	37	c.3204		1																																																																																			CACHD1	-	NULL	ENSG00000158966		0.473	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		-	0	103	0	G	NM_020925		65143953	1	tier1	-	no_errors	ENST00000371073	ensembl	human	known	74_37	silent	37.82	74	45	SNP	0.987	A	A	65143953	G	A	65143953	2	1	178	1	0	0	0	0	0	0	0	1	2544	1335	47	3		3	CACHD1	1	65143953	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	25192516	65143953	184106668	9	44212											
ELTD1	64123	genome.wustl.edu	37	chr1	79387315	79387315	+	Missense_Mutation	SNP	A	A	C	1	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	tacaatggaaggaccagaggAcatcaaaattgcaaaatgtg	18	7	10	6	0	1	1	1	0	0	1	1	4	1	4	1	3	2	1	1	3	7	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:79387315A>C	ENST00000370742.3	-	9	1303	c.1240T>G	c.(1240-1242)Tcc>Gcc	p.S414A		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	414	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S414A(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)		GGACCAGAGGACATCAAAATT	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											149	140	143					1																	79387315		1951	4143	6094	SO:0001583	missense	0			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.1240T>G	1.37:g.79387315A>C	ENSP00000359778:p.Ser414Ala		B1AR71|Q5KU34	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S414A	ENST00000370742.3	37	c.1240	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	A	6.769	0.510696	0.12883	.	.	ENSG00000162618	ENST00000370742	T	0.36520	1.25	5.32	5.32	0.75619	GPS domain (2);	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	N	0.03304	-0.355	0.52099	D	0.999947	B	0.29988	0.264	B	0.36885	0.235	T	0.21075	-1.0256	9	.	.	.	.	15.5771	0.76400	1.0:0.0:0.0:0.0	.	414	Q9HBW9	ELTD1_HUMAN	A	414	ENSP00000359778:S414A	.	S	-	1	0	ELTD1	79159903	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	5.750000	0.68712	2.130000	0.65690	0.477000	0.44152	TCC	ELTD1	-	smart_GPS_dom,pfscan_GPS_dom	ENSG00000162618		0.388	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1		0	45	0	A	NM_022159		79387315	-1			no_errors	ENST00000370742	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	C	C	79387315	A	C	79387315	3	2	178	1	0	0	0	0	1	0	0	0	5100	275	10	4	860	4	ELTD1	1	79387315	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	14243362	79387315	169863306	10	44213											
BRDT	676	genome.wustl.edu	37	chr1	92470125	92470125	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacacaggaactcatacggaAgcatttggaacaaaatacaa	19	6	8	8	1	1	0	1	0	0	0	1	4	1	3	0	3	5	1	0	3	8	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:92470125A>T	ENST00000362005.3	+	18	2961	c.2543A>T	c.(2542-2544)aAg>aTg	p.K848M	BRDT_ENST00000394530.3_Missense_Mutation_p.K802M|BRDT_ENST00000402388.1_Missense_Mutation_p.K848M|BRDT_ENST00000370389.2_Missense_Mutation_p.K775M|BRDT_ENST00000399546.2_Missense_Mutation_p.K848M	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	848					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTCATACGGAAGCATTTGGAA	0.378																																																	0													80	86	84					1																	92470125		2202	4300	6502	SO:0001583	missense	0			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2543A>T	1.37:g.92470125A>T	ENSP00000354568:p.Lys848Met		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K848M	ENST00000362005.3	37	c.2543	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.624083	0.46840	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.16;3.11	5.49	4.37	0.52481	.	0.000000	0.53938	D	0.000044	T	0.12774	0.0310	M	0.69823	2.125	0.37494	D	0.916506	D;D;D;D	0.76494	0.999;0.999;0.995;0.999	D;D;P;D	0.64595	0.927;0.927;0.887;0.927	T	0.01172	-1.1429	10	0.72032	D	0.01	-24.6011	5.4696	0.16662	0.7577:0.0:0.2423:0.0	.	802;802;852;848	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	M	848;775;848;802;848	ENSP00000354568:K848M;ENSP00000359416:K775M;ENSP00000387822:K848M;ENSP00000378038:K802M;ENSP00000384051:K848M	ENSP00000354568:K848M	K	+	2	0	BRDT	92242713	0.874000	0.30092	0.992000	0.48379	0.914000	0.54420	0.942000	0.29017	2.084000	0.62774	0.397000	0.26171	AAG	BRDT	-	NULL	ENSG00000137948		0.378	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2		0	66	0	A	NM_207189		92470125	1			no_errors	ENST00000362005	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.997	T	T	92470125	A	T	92470125	3	4	178	1	0	0	0	0	1	0	0	0	1512	72	3	5	2605	5	BRDT	1	92470125	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	13082810	92470125	156780496	11	44214											
FAM19A3	284467	genome.wustl.edu	37	chr1	113269299	113269299	+	3'UTR	SNP	C	C	T	0	0	0	1	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	cctggacaagaaaggcttgaCtgagccgtgaactgaagaat	14	7	12	8	1	0	6	0	4	0	2	0	7	0	7	2	2	2	1	2	2	5	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:113269299C>T	ENST00000361886.3	+	0	498				FAM19A3_ENST00000369630.3_Silent_p.D169D	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3							extracellular region (GO:0005576)				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGGCTTGACTGAGCCGTGA	0.507																																																	0													140	118	126					1																	113269299		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AY325119	CCDS856.1, CCDS30806.1	1p13.2	2008-02-05			ENSG00000184599	ENSG00000184599			21590	protein-coding gene	gene with protein product						15028294	Standard	NM_182759		Approved	TAFA-3	uc001ecu.3	Q7Z5A8	OTTHUMG00000012020	ENST00000361886.3:c.*37C>T	1.37:g.113269299C>T			B7ZLU0|Q2M1P9|Q7Z5A6	Silent	SNP	pfam_Chemokine-like_FAM19A2	p.D169	ENST00000361886.3	37	c.507	CCDS856.1	1																																																																																			FAM19A3	-	NULL	ENSG00000184599		0.507	FAM19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A3	HGNC	protein_coding	OTTHUMT00000033255.1		0	27	0	C	NM_182759		113269299	1			no_errors	ENST00000369630	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.000	T	T	113269299	C	T	113269299	1	4	178	0	1	0	0	0	0	0	0	0	5552	564	20	3		3	FAM19A3	1	113269299	3'UTR	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	20799174	113269299	135981322	12	44215											
CTSS	1520	genome.wustl.edu	37	chr1	150727558	150727558	+	Silent	SNP	T	T	C	0	1	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	cgattagggtttgacttataTgtgatatttctctgccactg	8	17	9	7	1	1	2	0	2	1	0	2	3	1	2	1	1	1	1	1	1	4	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:150727558T>C	ENST00000368985.3	-	4	578	c.318A>G	c.(316-318)acA>acG	p.T106T	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	106					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|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)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|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)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTGACTTATATGTGATATTTC	0.413																																																	0													203	195	198					1																	150727558		2203	4300	6503	SO:0001819	synonymous_variant	0			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.318A>G	1.37:g.150727558T>C			B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.T106	ENST00000368985.3	37	c.318	CCDS968.1	1																																																																																			CTSS	-	NULL	ENSG00000163131		0.413	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSS	HGNC	protein_coding	OTTHUMT00000084737.1		0	46	0	T	NM_004079		150727558	-1			no_errors	ENST00000368985	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.406	C	C	150727558	T	C	150727558	2	2	178	1	0	0	0	0	0	0	0	1	4050	1451	51	4		4	CTSS	1	150727558	Silent	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	37458259	150727558	98523063	13	44216											
SETDB1	9869	genome.wustl.edu	37	chr1	150913897	150913897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagcagttcccaggatctGcataaaggttagggtcaaga	14	8	12	7	0	2	2	1	0	1	2	3	3	3	3	1	3	2	4	1	3	5	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:150913897G>A	ENST00000271640.5	+	5	730	c.540G>A	c.(538-540)ctG>ctA	p.L180L	SETDB1_ENST00000368962.2_Silent_p.L180L|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_Silent_p.L180L|SETDB1_ENST00000368969.4_Silent_p.L180L	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	180					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)			CCCAGGATCTGCATAAAGGTT	0.423																																																	0													79	69	73					1																	150913897		2203	4300	6503	SO:0001819	synonymous_variant	0			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.540G>A	1.37:g.150913897G>A			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.L180	ENST00000271640.5	37	c.540	CCDS44217.1	1																																																																																			SETDB1	-	NULL	ENSG00000143379		0.423	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0	55	0	G			150913897	1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.006	A	A	150913897	G	A	150913897	2	1	178	1	0	0	0	0	0	0	0	1	14183	1306	46	3		3	SETDB1	1	150913897	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	186339	150913897	98336724	14	44217											
TUFT1	7286	genome.wustl.edu	37	chr1	151547394	151547394	+	Missense_Mutation	SNP	A	A	G	1	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	gtggcccacccaggagcatcAggccttactggcgaaagtga	10	6	13	12	1	1	1	1	1	0	0	1	3	1	2	3	4	2	1	3	4	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:151547394A>G	ENST00000368849.3	+	9	793	c.731A>G	c.(730-732)cAg>cGg	p.Q244R	TUFT1_ENST00000392712.3_Missense_Mutation_p.Q189R|TUFT1_ENST00000353024.3_Missense_Mutation_p.Q185R|TUFT1_ENST00000538902.1_Missense_Mutation_p.Q263R|TUFT1_ENST00000368848.2_Missense_Mutation_p.Q219R	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	244				Q -> R (in Ref. 3; BAB15615). {ECO:0000305}.	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)			CAGGAGCATCAGGCCTTACTG	0.552																																																	0													38	30	32					1																	151547394		2193	4292	6485	SO:0001583	missense	0			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.731A>G	1.37:g.151547394A>G	ENSP00000357842:p.Gln244Arg		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	superfamily_Prefoldin	p.Q263R	ENST00000368849.3	37	c.788	CCDS1000.1	1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844301	0.51164	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	4.51	4.51	0.55191	.	0.385794	0.28809	N	0.014079	T	0.55369	0.1916	L	0.47190	1.495	0.31613	N	0.651288	P;B;P	0.39181	0.597;0.176;0.663	B;B;B	0.37943	0.166;0.174;0.261	T	0.53365	-0.8449	10	0.19590	T	0.45	-20.5276	12.0971	0.53761	1.0:0.0:0.0:0.0	.	263;219;244	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	R	244;189;185;219;263	ENSP00000357842:Q244R;ENSP00000376476:Q189R;ENSP00000343781:Q185R;ENSP00000357841:Q219R;ENSP00000437997:Q263R	ENSP00000343781:Q185R	Q	+	2	0	TUFT1	149814018	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.841000	0.62824	2.031000	0.59945	0.459000	0.35465	CAG	TUFT1	-	superfamily_Prefoldin	ENSG00000143367		0.552	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFT1	HGNC	protein_coding	OTTHUMT00000035022.1		0	36	0	A	NM_020127		151547394	1			no_errors	ENST00000538902	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	G	G	151547394	A	G	151547394	3	3	178	1	0	0	0	0	1	0	0	0	16821	188	7	4	765	4	TUFT1	1	151547394	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	633497	151547394	97703227	15	44218											
ILF2	3608	genome.wustl.edu	37	chr1	153636905	153636905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattttcctcgaaccagcggGcatgtcggatggctgctaag	8	10	12	11	3	0	0	0	0	0	0	3	2	1	1	2	3	3	3	2	3	2	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:153636905G>A	ENST00000361891.4	-	9	748	c.623C>T	c.(622-624)gCc>gTc	p.A208V	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	208	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	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)			GAACCAGCGGGCATGTCGGAT	0.423																																																	0													126	118	121					1																	153636905		2203	4300	6503	SO:0001583	missense	0			U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"interleukin enhancer binding factor 2, 45kD", "interleukin enhancer binding factor 2, 45kDa"			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.623C>T	1.37:g.153636905G>A	ENSP00000355011:p.Ala208Val		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N	p.A208V	ENST00000361891.4	37	c.623	CCDS1050.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691313	0.88735	.	.	ENSG00000143621	ENST00000361891	T	0.44083	0.93	5.62	5.62	0.85841	DZF (2);	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.49778	1.585	0.80722	D	1	B;B	0.33022	0.343;0.394	B;P	0.45232	0.343;0.474	T	0.36089	-0.9762	10	0.54805	T	0.06	-8.5398	17.1679	0.86821	0.0:0.0:1.0:0.0	.	208;208	F4ZW62;Q12905	.;ILF2_HUMAN	V	208	ENSP00000355011:A208V	ENSP00000355011:A208V	A	-	2	0	ILF2	151903529	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.723000	0.91458	2.661000	0.90470	0.650000	0.86243	GCC	ILF2	-	pfam_DZF,smart_DZF	ENSG00000143621		0.423	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF2	HGNC	protein_coding	OTTHUMT00000090040.1	-	0	52	0	G	NM_004515		153636905	-1	tier1	-	no_errors	ENST00000361891	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	A	A	153636905	G	A	153636905	3	1	178	1	0	0	0	0	1	0	0	0	7738	1203	42	3	573	3	ILF2	1	153636905	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	2089511	153636905	95613716	16	44219											
UBAP2L	9898	genome.wustl.edu	37	chr1	154199782	154199782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagaacaaattagacttGcacagatgatttcggaccat	14	10	8	9	1	0	4	0	1	0	3	1	5	0	5	1	1	3	2	1	1	3	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:154199782G>A	ENST00000361546.2	+	2	157	c.115G>A	c.(115-117)Gca>Aca	p.A39T	UBAP2L_ENST00000271877.7_Missense_Mutation_p.A39T|UBAP2L_ENST00000343815.6_Missense_Mutation_p.A39T|UBAP2L_ENST00000428931.1_Missense_Mutation_p.A39T			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	39					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)			AATTAGACTTGCACAGATGAT	0.398																																																	0													173	161	165					1																	154199782		2203	4300	6503	SO:0001583	missense	0			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.115G>A	1.37:g.154199782G>A	ENSP00000355343:p.Ala39Thr		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A39T	ENST00000361546.2	37	c.115	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.326988	0.95708	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000441890;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.75	4.75	0.60458	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.78344	2.41	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.996;0.993	D;D;D;D	0.83275	0.996;0.99;0.99;0.977	T	0.57347	-0.7827	10	0.87932	D	0	-6.9567	16.962	0.86274	0.0:0.0:1.0:0.0	.	39;39;39;39	F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;UBP2L_HUMAN	T	39	ENSP00000345308:A39T;ENSP00000389445:A39T;ENSP00000399920:A39T;ENSP00000271877:A39T;ENSP00000389052:A39T;ENSP00000357490:A39T;ENSP00000389717:A39T;ENSP00000415310:A39T;ENSP00000355343:A39T	ENSP00000271877:A39T	A	+	1	0	UBAP2L	152466406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.186000	0.94906	2.453000	0.82957	0.650000	0.86243	GCA	UBAP2L	-	superfamily_UBA-like	ENSG00000143569		0.398	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	-	0	64	0	G	NM_014847		154199782	1	tier1	-	no_errors	ENST00000361546	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	154199782	G	A	154199782	3	1	178	1	0	0	0	0	1	0	0	0	16887	1319	46	3	121	3	UBAP2L	1	154199782	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	562877	154199782	95050839	17	44220											
BCAN	63827	genome.wustl.edu	37	chr1	156618381	156618381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactgttcctgggtgaccCtccagagaagctgacattgg	10	9	12	10	0	0	4	0	2	0	2	2	5	2	4	3	2	2	2	3	2	2	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:156618381C>A	ENST00000329117.5	+	6	1127	c.791C>A	c.(790-792)cCt>cAt	p.P264H	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.P264H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	264	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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)					CTGGGTGACCCTCCAGAGAAG	0.607																																																	0													73	74	74					1																	156618381		2203	4300	6503	SO:0001583	missense	0			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.791C>A	1.37:g.156618381C>A	ENSP00000331210:p.Pro264His		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom	p.P264H	ENST00000329117.5	37	c.791	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725443	0.48833	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000424639;ENST00000361588	T;T;T	0.10573	2.86;2.86;2.86	4.65	4.65	0.58169	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.207171	0.33023	N	0.005372	T	0.14485	0.0350	L	0.33093	0.98	0.46564	D	0.999104	D;B	0.55385	0.971;0.306	D;P	0.64506	0.926;0.477	T	0.01894	-1.1252	10	0.72032	D	0.01	-10.5786	16.2643	0.82568	0.0:1.0:0.0:0.0	.	264;264	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	205;264;162;264	ENSP00000331210:P264H;ENSP00000401709:P162H;ENSP00000354925:P264H	ENSP00000255029:P205H	P	+	2	0	BCAN	154885005	0.003000	0.15002	0.978000	0.43139	0.268000	0.26511	2.062000	0.41413	2.415000	0.81967	0.555000	0.69702	CCT	BCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000132692		0.607	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2		0	69	0	C	NM_021948		156618381	1			no_errors	ENST00000329117	ensembl	human	known	74_37	missense	7.14	51	4	SNP	0.978	A	A	156618381	C	A	156618381	3	1	178	1	0	0	0	0	1	0	0	0	1346	681	24	3	809	3	BCAN	1	156618381	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	2418599	156618381	92632240	18	44221											
GPR161	23432	genome.wustl.edu	37	chr1	168073767	168073767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggcagagctgatcagcaGgtagaggagggcagagaagt	12	5	18	6	0	1	4	1	1	0	3	1	6	1	5	0	4	2	6	0	4	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:168073767G>T	ENST00000367838.1	-	4	635	c.322C>A	c.(322-324)Ctg>Atg	p.L108M	GPR161_ENST00000367835.1_Missense_Mutation_p.L108M|GPR161_ENST00000361697.2_Missense_Mutation_p.L108M|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000537209.1_Missense_Mutation_p.L128M|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000271357.5_Missense_Mutation_p.L108M	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	108					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)					CTGATCAGCAGGTAGAGGAGG	0.557																																																	0													120	111	114					1																	168073767		2203	4300	6503	SO:0001583	missense	0			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.322C>A	1.37:g.168073767G>T	ENSP00000356812:p.Leu108Met		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L128M	ENST00000367838.1	37	c.382	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034540	0.35893	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367835;ENST00000537209;ENST00000361697	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.47	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.140180	0.48286	D	0.000191	T	0.41719	0.1171	L	0.31294	0.92	0.38107	D	0.937442	B;B;B;B	0.25312	0.098;0.123;0.013;0.075	B;B;B;B	0.26416	0.046;0.056;0.022;0.069	T	0.45425	-0.9262	9	0.51188	T	0.08	-6.8849	7.9159	0.29818	0.0816:0.0:0.6668:0.2516	.	128;128;108;108	F5GXD6;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;GP161_HUMAN	M	108;108;108;128;108	ENSP00000356812:L108M;ENSP00000271357:L108M;ENSP00000356809:L108M;ENSP00000441039:L128M;ENSP00000355194:L108M	ENSP00000271357:L108M	L	-	1	2	GPR161	166340391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.262000	0.51538	2.558000	0.86282	0.655000	0.94253	CTG	GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000143147		0.557	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	-	0	50	0	G	NM_007369		168073767	-1	tier1	-	no_errors	ENST00000537209	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	168073767	G	T	168073767	3	4	178	1	0	0	0	0	1	0	0	0	6691	991	35	3	1287	3	GPR161	1	168073767	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	11455386	168073767	81176854	19	44222											
NR5A2	2494	genome.wustl.edu	37	chr1	200012970	200012970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctttgtcccgtgtgtggaGataaagtgtctgggtaccat	8	13	13	7	1	1	1	0	0	1	1	2	2	2	1	2	2	2	2	2	2	3	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:200012970G>A	ENST00000367362.3	+	3	517	c.271G>A	c.(271-273)Gat>Aat	p.D91N	NR5A2_ENST00000544748.1_Missense_Mutation_p.D19N|NR5A2_ENST00000236914.3_Missense_Mutation_p.D45N	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	91					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|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)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CGTGTGTGGAGATAAAGTGTC	0.383																																					Melanoma(179;1138 2773 15678 26136)												0													119	110	113					1																	200012970		2203	4300	6503	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.271G>A	1.37:g.200012970G>A	ENSP00000356331:p.Asp91Asn		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D91N	ENST00000367362.3	37	c.271	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.582042	0.96578	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480	D;D;D	0.98329	-4.87;-4.87;-4.87	5.91	5.91	0.95273	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99342	1.0912	9	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	45;91	F1D8R9;O00482	.;NR5A2_HUMAN	N	91;45;19;11	ENSP00000356331:D91N;ENSP00000236914:D45N;ENSP00000439116:D19N	.	D	+	1	0	NR5A2	198279593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.343000	0.97047	2.814000	0.96858	0.650000	0.86243	GAT	NR5A2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000116833		0.383	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	-	0	58	0	G			200012970	1	tier1	-	no_errors	ENST00000367362	ensembl	human	known	74_37	missense	12.86	61	9	SNP	1.000	A	A	200012970	G	A	200012970	3	1	178	1	0	0	0	0	1	0	0	0	10675	942	33	3	281	3	NR5A2	1	200012970	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	31939203	200012970	49237651	20	44223											
TMEM206	55248	genome.wustl.edu	37	chr1	212558750	212558750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcaactgggcctgacCggggtacaaggcaatacctg	10	6	14	11	1	0	2	0	2	0	0	0	2	0	2	3	4	4	4	3	4	5	2	rs369443875		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr1:212558750C>T	ENST00000261455.4	-	4	498	c.361G>A	c.(361-363)Ggt>Agt	p.G121S	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Missense_Mutation_p.G182S	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	121						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G121C(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TGGGCCTGACCGGGGTACAAG	0.532																																																	1	Substitution - Missense(1)	kidney(1)						C	SER/GLY,SER/GLY	0,4406		0,0,2203	89	83	85		544,361	5.4	0.7	1		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TMEM206	NM_001198862.1,NM_018252.2	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	182/412,121/351	212558750	1,13005	2203	4300	6503	SO:0001583	missense	0			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 75"	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.361G>A	1.37:g.212558750C>T	ENSP00000261455:p.Gly121Ser		B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	NULL	p.G182S	ENST00000261455.4	37	c.544	CCDS1504.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.205822	0.95033	0.0	1.16E-4	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75531	-0.3285	9	0.87932	D	0	-25.2915	19.2273	0.93822	0.0:1.0:0.0:0.0	.	182;121	B7Z4D6;Q9H813	.;TM206_HUMAN	S	121;182	.	ENSP00000261455:G121S	G	-	1	0	TMEM206	210625373	1.000000	0.71417	0.667000	0.29798	0.761000	0.43186	6.922000	0.75811	2.531000	0.85337	0.655000	0.94253	GGT	TMEM206	-	NULL	ENSG00000065600		0.532	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM206	HGNC	protein_coding	OTTHUMT00000089306.1	-	0	69	0	C	NM_018252		212558750	-1	tier1	-	no_errors	ENST00000535273	ensembl	human	known	74_37	missense	18.60	70	16	SNP	0.998	T	T	212558750	C	T	212558750	3	4	178	1	0	0	0	0	1	0	0	0	16178	652	23	1	711	1	TMEM206	1	212558750	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	12545780	212558750	36691871	21	44224											
APOB	338	genome.wustl.edu	37	chr2	21230478	21230478	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	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	attgaacctagcacttacttGccaacttgcttgctgggcac	9	12	8	12	0	0	1	0	1	0	0	0	1	0	1	2	1	7	4	2	1	4	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:21230478G>A	ENST00000233242.1	-	26	9389	c.9262C>T	c.(9262-9264)Caa>Taa	p.Q3088*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3088					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)	p.Q3088K(1)		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)					GCACTTACTTGCCAACTTGCT	0.408																																																	1	Substitution - Missense(1)	ovary(1)											103	104	104					2																	21230478		2203	4300	6503	SO:0001587	stop_gained	0			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.9262C>T	2.37:g.21230478G>A	ENSP00000233242:p.Gln3088*		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q3088*	ENST00000233242.1	37	c.9262	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	50	16.551330	0.99866	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	16.462	0.84059	0.0:0.1309:0.8691:0.0	.	.	.	.	X	3088	.	ENSP00000233242:Q3088X	Q	-	1	0	APOB	21083983	0.991000	0.36638	1.000000	0.80357	0.897000	0.52465	1.719000	0.38011	2.780000	0.95670	0.655000	0.94253	CAA	APOB	-	NULL	ENSG00000084674		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0	50	0	G			21230478	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	0.981	A	A	21230478	G	A	21230478	4	1	178	1	0	0	0	0	0	1	0	0	785	1328	46	3	4445	3	APOB	2	21230478	Nonsense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09		21230478	221968895	22	44225											
FABP1	2168	genome.wustl.edu	37	chr2	88427516	88427516	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttcctggctctgcagttgGtacttgccggagaaactcat	7	14	10	10	1	2	1	1	0	1	1	3	2	3	1	2	3	4	4	2	3	2	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:88427516G>A	ENST00000295834.3	-	1	119	c.21C>T	c.(19-21)taC>taT	p.Y7Y	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000393750.3_Silent_p.Y7Y	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	7					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TCTGCAGTTGGTACTTGCCGG	0.532																																																	0													179	155	163					2																	88427516		2203	4300	6503	SO:0001819	synonymous_variant	0			M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"Fatty acid binding protein family"	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.21C>T	2.37:g.88427516G>A				Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.Y7	ENST00000295834.3	37	c.21	CCDS2001.1	2																																																																																			FABP1	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	ENSG00000163586		0.532	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP1	HGNC	protein_coding	OTTHUMT00000252660.1	-	0	52	0	G	NM_001443		88427516	-1	tier1	-	no_errors	ENST00000295834	ensembl	human	known	74_37	silent	37.70	38	23	SNP	1.000	A	A	88427516	G	A	88427516	2	1	178	1	0	0	0	0	0	0	0	1	5374	1256	44	3		3	FABP1	2	88427516	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	67197038	88427516	154771857	23	44226											
IL18RAP	8807	genome.wustl.edu	37	chr2	103067351	103067351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatcctatgcaaaatggagCtcttttccaagtgaggccac	11	11	9	10	0	1	1	0	1	1	0	3	2	3	2	3	2	2	3	3	2	5	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:103067351C>A	ENST00000264260.2	+	11	1843	c.1254C>A	c.(1252-1254)agC>agA	p.S418R	IL18RAP_ENST00000409369.1_Missense_Mutation_p.S276R	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	418	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						CAAAATGGAGCTCTTTTCCAA	0.338																																																	0													105	115	111					2																	103067351		2203	4300	6503	SO:0001583	missense	0			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.1254C>A	2.37:g.103067351C>A	ENSP00000264260:p.Ser418Arg		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.S418R	ENST00000264260.2	37	c.1254	CCDS2061.1	2	.	.	.	.	.	.	.	.	.	.	C	7.448	0.642041	0.14451	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02552	4.3;4.25	5.9	4.08	0.47627	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.529823	0.20286	N	0.095342	T	0.04407	0.0121	M	0.62723	1.935	0.09310	N	1	B	0.27013	0.166	B	0.28638	0.092	T	0.18999	-1.0319	10	0.41790	T	0.15	.	9.0663	0.36465	0.0:0.7572:0.0:0.2428	.	418	O95256	I18RA_HUMAN	R	418;276	ENSP00000264260:S418R;ENSP00000387201:S276R	ENSP00000264260:S418R	S	+	3	2	IL18RAP	102433783	0.000000	0.05858	0.064000	0.19789	0.133000	0.20885	0.251000	0.18257	2.788000	0.95919	0.650000	0.86243	AGC	IL18RAP	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000115607		0.338	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18RAP	HGNC	protein_coding	OTTHUMT00000253291.2	-	0	66	0	C	NM_003853		103067351	1	tier1	-	no_errors	ENST00000264260	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.006	A	A	103067351	C	A	103067351	3	1	178	1	0	0	0	0	1	0	0	0	7675	796	28	3	1288	3	IL18RAP	2	103067351	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	14639835	103067351	140132022	24	44227											
TGFBRAP1	9392	genome.wustl.edu	37	chr2	105886008	105886008	+	Silent	SNP	T	T	A	0	1	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	aagagttgctggcggtggggTgggtctcggccctcggagca	5	8	19	9	3	1	1	0	0	1	1	3	2	1	2	1	7	2	3	1	7	1	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:105886008T>A	ENST00000393359.2	-	11	2553	c.2127A>T	c.(2125-2127)ccA>ccT	p.P709P	TGFBRAP1_ENST00000258449.1_Silent_p.P709P			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	709					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GGCGGTGGGGTGGGTCTCGGC	0.657																																					Esophageal Squamous(183;794 2019 9730 21801 48859)												0													24	28	26					2																	105886008		2202	4300	6502	SO:0001819	synonymous_variant	0			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2127A>T	2.37:g.105886008T>A			A8K5R7|D3DVJ8|O60466	Silent	SNP	pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.P709	ENST00000393359.2	37	c.2127	CCDS2067.1	2																																																																																			TGFBRAP1	-	NULL	ENSG00000135966		0.657	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	HGNC	protein_coding	OTTHUMT00000253354.2	-	0	44	0	T	NM_004257		105886008	-1	tier1	-	no_errors	ENST00000258449	ensembl	human	known	74_37	silent	9.38	58	6	SNP	0.000	A	A	105886008	T	A	105886008	2	1	178	1	0	0	0	0	0	0	0	1	15871	1683	59	5		5	TGFBRAP1	2	105886008	Silent	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	2818657	105886008	137313365	25	44228											
PTPN4	5775	genome.wustl.edu	37	chr2	120677751	120677751	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacattcttccgtttggacaGaccacttccacctcaaaaga	12	10	5	14	1	2	2	1	0	1	2	4	3	4	3	4	1	0	1	4	1	2	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:120677751G>C	ENST00000263708.2	+	12	1706	c.935G>C	c.(934-936)aGa>aCa	p.R312T	snoU13_ENST00000459555.1_RNA	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	312	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CGTTTGGACAGACCACTTCCA	0.338																																																	0													127	126	126					2																	120677751		2202	4299	6501	SO:0001583	missense	0				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.935G>C	2.37:g.120677751G>C	ENSP00000263708:p.Arg312Thr		B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R312T	ENST00000263708.2	37	c.935	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317946	0.60524	.	.	ENSG00000088179	ENST00000263708	D	0.83335	-1.71	5.55	5.55	0.83447	FERM, C-terminal PH-like domain (1);FERM domain (1);	0.150518	0.64402	D	0.000010	T	0.73682	0.3618	N	0.17800	0.525	0.80722	D	1	B	0.10296	0.003	B	0.17979	0.02	T	0.68131	-0.5490	10	0.46703	T	0.11	.	15.2043	0.73165	0.0:0.1401:0.8599:0.0	.	312	P29074	PTN4_HUMAN	T	312	ENSP00000263708:R312T	ENSP00000263708:R312T	R	+	2	0	PTPN4	120394221	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.280000	0.65603	2.885000	0.99019	0.655000	0.94253	AGA	PTPN4	-	pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain	ENSG00000088179		0.338	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	-	0	32	0	G			120677751	1	tier1	-	no_errors	ENST00000263708	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	C	C	120677751	G	C	120677751	3	2	178	1	0	0	0	0	1	0	0	0	12835	942	33	5	977	5	PTPN4	2	120677751	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	14791743	120677751	122521622	26	44229											
SAP130	79595	genome.wustl.edu	37	chr2	128699581	128699581	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcctgattgttctgggtcTagactttttcctttcgcttc	3	20	7	11	1	3	2	0	1	3	1	7	2	4	2	2	1	0	2	2	1	1	7			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:128699581T>C	ENST00000259235.3	-	20	3275	c.3146A>G	c.(3145-3147)tAg>tGg	p.*1049W	SAP130_ENST00000259234.6_Nonstop_Mutation_p.*1057W|SAP130_ENST00000357702.5_Nonstop_Mutation_p.*1084W	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	0					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)		GTTCTGGGTCTAGACTTTTTC	0.403																																																	0													146	137	140					2																	128699581		2203	4300	6503	SO:0001578	stop_lost	0			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.3146A>G	2.37:g.128699581T>C	ENSP00000259235:p.*1049Serext*31		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Nonstop_Mutation	SNP	NULL	p.*1084W	ENST00000259235.3	37	c.3251	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	.	11.73	1.726199	0.30593	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7203	0.40300	0.0:0.1325:0.0:0.8675	.	.	.	.	W	1084;1049;1057	.	.	X	-	2	0	SAP130	128416051	1.000000	0.71417	0.996000	0.52242	0.362000	0.29581	2.654000	0.46699	2.371000	0.80710	0.533000	0.62120	TAG	SAP130	-	NULL	ENSG00000136715		0.403	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3		0	21	0	T	NM_024545		128699581	-1			no_errors	ENST00000357702	ensembl	human	known	74_37	nonstop	13.04	20	3	SNP	1.000	C	C	128699581	T	C	128699581	4	2	178	1	0	0	0	0	0	0	0	0	13876	1535	53	4	4	4	SAP130	2	128699581	Nonstop_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	8021830	128699581	114499792	27	44230											
LRP1B	53353	genome.wustl.edu	37	chr2	141079538	141079538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagtatacccacctaacaGgctgtcatcattgcaggtgc	12	10	8	11	0	2	0	2	0	0	0	2	0	2	0	2	2	4	3	2	2	5	5	rs375754113		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:141079538G>T	ENST00000389484.3	-	82	13605	c.12634C>A	c.(12634-12636)Ctg>Atg	p.L4212M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4212					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)		CCACCTAACAGGCTGTCATCA	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													74	82	79					2																	141079538		2203	4300	6503	SO:0001583	missense	0			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.12634C>A	2.37:g.141079538G>T	ENSP00000374135:p.Leu4212Met		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L4212M	ENST00000389484.3	37	c.12634	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	g	14.44	2.534680	0.45073	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90385	-2.66	5.19	1.09	0.20402	Growth factor, receptor (1);	0.758190	0.11895	N	0.519256	D	0.82834	0.5123	L	0.39898	1.24	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.69363	-0.5165	10	0.46703	T	0.11	.	2.0197	0.03506	0.1385:0.2478:0.3587:0.2549	.	4212	Q9NZR2	LRP1B_HUMAN	M	4212;4150	ENSP00000374135:L4212M	ENSP00000374135:L4212M	L	-	1	2	LRP1B	140796008	0.001000	0.12720	0.677000	0.29947	0.991000	0.79684	0.006000	0.13152	-0.016000	0.14127	0.650000	0.86243	CTG	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000168702		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	91	0	G	NM_018557		141079538	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	9.09	90	9	SNP	0.003	T	T	141079538	G	T	141079538	3	4	178	1	0	0	0	0	1	0	0	0	8990	991	35	3	1205	3	LRP1B	2	141079538	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	12379957	141079538	102119835	28	44231											
TANC1	85461	genome.wustl.edu	37	chr2	160035233	160035233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccgatgccacactcattgGaaaagtgagcagccacctgg	11	6	12	12	1	1	1	1	1	0	0	1	3	1	2	4	3	3	1	4	3	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:160035233G>T	ENST00000263635.6	+	14	2306	c.2069G>T	c.(2068-2070)gGa>gTa	p.G690V	TANC1_ENST00000454300.1_Missense_Mutation_p.G584V	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	690					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)		p.G690E(1)		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						ACACTCATTGGAAAAGTGAGC	0.582																																																	1	Substitution - Missense(1)	central_nervous_system(1)											53	57	55					2																	160035233		2133	4235	6368	SO:0001583	missense	0			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.2069G>T	2.37:g.160035233G>T	ENSP00000263635:p.Gly690Val		C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.G690V	ENST00000263635.6	37	c.2069	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394549	0.42512	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70399	-0.47;-0.48	5.91	5.01	0.66863	.	0.206543	0.50627	D	0.000114	T	0.72342	0.3448	M	0.66939	2.045	0.80722	D	1	B;B;B	0.25850	0.061;0.101;0.136	B;B;B	0.31495	0.062;0.131;0.091	T	0.71781	-0.4489	10	0.62326	D	0.03	.	16.3948	0.83586	0.0:0.1603:0.8397:0.0	.	682;584;690	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	V	584;690	ENSP00000396339:G584V;ENSP00000263635:G690V	ENSP00000263635:G690V	G	+	2	0	TANC1	159743479	0.998000	0.40836	0.992000	0.48379	0.711000	0.40976	5.323000	0.65858	1.408000	0.46895	0.655000	0.94253	GGA	TANC1	-	NULL	ENSG00000115183		0.582	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1		0	51	0	G			160035233	1			no_errors	ENST00000263635	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	160035233	G	T	160035233	3	4	178	1	0	0	0	0	1	0	0	0	15591	1174	41	3	2115	3	TANC1	2	160035233	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	18955695	160035233	83164140	29	44232											
TBR1	10716	genome.wustl.edu	37	chr2	162273517	162273517	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctcctccacccagccggggcTggtgcccggcaaagcacagg	7	4	13	17	2	0	0	0	0	0	0	2	0	2	0	5	5	3	3	5	5	1	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:162273517T>C	ENST00000389554.3	+	1	913	c.596T>C	c.(595-597)cTg>cCg	p.L199P	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	199					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CAGCCGGGGCTGGTGCCCGGC	0.602																																																	0													55	59	58					2																	162273517		2203	4300	6503	SO:0001583	missense	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.596T>C	2.37:g.162273517T>C	ENSP00000374205:p.Leu199Pro		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L199P	ENST00000389554.3	37	c.596	CCDS33310.1	2	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862579	0.32884	.	.	ENSG00000136535	ENST00000389554	D	0.88509	-2.39	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000017	D	0.85919	0.5809	N	0.12746	0.255	0.80722	D	1	D	0.61080	0.989	P	0.56278	0.795	D	0.85522	0.1204	10	0.30078	T	0.28	.	14.3626	0.66782	0.0:0.0:0.0:1.0	.	199	Q16650	TBR1_HUMAN	P	199	ENSP00000374205:L199P	ENSP00000374205:L199P	L	+	2	0	TBR1	161981763	1.000000	0.71417	0.981000	0.43875	0.798000	0.45092	6.085000	0.71343	2.261000	0.74972	0.533000	0.62120	CTG	TBR1	-	NULL	ENSG00000136535		0.602	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1		0	74	0	T	NM_006593		162273517	1			no_errors	ENST00000389554	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C	C	162273517	T	C	162273517	3	2	178	1	0	0	0	0	1	0	0	0	15694	1580	55	4	598	4	TBR1	2	162273517	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	2238284	162273517	80925856	30	44233											
FIGN	55137	genome.wustl.edu	37	chr2	164468194	164468194	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcgcccaggcgtactgatAggtgcgctgcagatgacctc	8	9	12	12	3	0	3	0	2	0	1	2	3	0	3	2	2	3	3	2	2	2	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:164468194A>G	ENST00000333129.3	-	3	462	c.148T>C	c.(148-150)Tat>Cat	p.Y50H	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	50					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GCGTACTGATAGGTGCGCTGC	0.498																																																	0													128	128	128					2																	164468194		2055	4209	6264	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.148T>C	2.37:g.164468194A>G	ENSP00000333836:p.Tyr50His		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Y50H	ENST00000333129.3	37	c.148	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442687	0.63067	.	.	ENSG00000182263	ENST00000333129	T	0.38887	1.11	6.17	6.17	0.99709	.	0.000000	0.64402	U	0.000001	T	0.62527	0.2435	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.59825	-0.7381	10	0.39692	T	0.17	-21.7445	16.8222	0.85835	1.0:0.0:0.0:0.0	.	50	Q5HY92	FIGN_HUMAN	H	50	ENSP00000333836:Y50H	ENSP00000333836:Y50H	Y	-	1	0	FIGN	164176440	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TAT	FIGN	-	NULL	ENSG00000182263		0.498	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0	51	0	A	NM_018086		164468194	-1	tier1	-	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	26.92	57	21	SNP	1.000	G	G	164468194	A	G	164468194	3	3	178	1	0	0	0	0	1	0	0	0	5913	420	15	4	2135	4	FIGN	2	164468194	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	2194677	164468194	78731179	31	44234											
SCN9A	6335	genome.wustl.edu	37	chr2	167056010	167056010	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttttttgggtcacagtcGggtggcttactgttaagaat	8	16	11	6	1	1	1	1	0	0	1	2	1	1	1	0	3	1	2	0	3	3	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:167056010G>T	ENST00000409435.1	-	26	5138	c.5139C>A	c.(5137-5139)ccC>ccA	p.P1713P	SCN9A_ENST00000375387.4_Silent_p.P1714P|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.P1714P|SCN9A_ENST00000409672.1_Silent_p.P1702P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1713					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)	GGTCACAGTCGGGTGGCTTAC	0.408																																																	0													218	233	228					2																	167056010		2203	4299	6502	SO:0001819	synonymous_variant	0			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.5139C>A	2.37:g.167056010G>T			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.P1714	ENST00000409435.1	37	c.5142	CCDS46441.1	2																																																																																			SCN9A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000169432		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1		0	55	0	G	NM_002977		167056010	-1			no_errors	ENST00000303354	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.002	T	T	167056010	G	T	167056010	2	4	178	1	0	0	0	0	0	0	0	1	13970	1103	39	2		2	SCN9A	2	167056010	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	2587816	167056010	76143363	32	44235											
KLHL23	151230	genome.wustl.edu	37	chr2	170591806	170591806	+	Nonsense_Mutation	SNP	T	T	A	0	1	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	ctggaaggccttgtaaattaTgcatacacttcccaaattga	13	12	7	9	0	0	1	0	1	0	0	1	2	1	2	2	2	2	2	2	2	6	6	rs148750414	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:170591806T>A	ENST00000392647.2	+	2	526	c.282T>A	c.(280-282)taT>taA	p.Y94*	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Nonsense_Mutation_p.Y94*	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	94	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TTGTAAATTATGCATACACTT	0.363																																																	0													45	48	47					2																	170591806		2200	4300	6500	SO:0001587	stop_gained	0			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.282T>A	2.37:g.170591806T>A	ENSP00000376419:p.Tyr94*		Q8N9B9|Q96FT8	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Y94*	ENST00000392647.2	37	c.282	CCDS2236.1	2	.	.	.	.	.	.	.	.	.	.	T	37	6.109801	0.97291	.	.	ENSG00000213160	ENST00000272797;ENST00000392647	.	.	.	5.81	2.14	0.27477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0778	0.42370	0.0:0.2568:0.0:0.7432	.	.	.	.	X	94	.	ENSP00000272797:Y94X	Y	+	3	2	KLHL23	170300052	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	0.159000	0.16442	0.124000	0.18369	0.533000	0.62120	TAT	KLHL23	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000213160		0.363	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2		0	67	0	T	NM_144711		170591806	1			no_errors	ENST00000272797	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.998	A	A	170591806	T	A	170591806	4	1	178	1	0	0	0	0	0	1	0	0	8405	1471	51	5	284	5	KLHL23	2	170591806	Nonsense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	3535796	170591806	72607567	33	44236											
FSIP2	401024	genome.wustl.edu	37	chr2	186655868	186655868	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagataaaggattttttgcTaatactgataaaaaattaga	19	13	6	3	0	0	3	0	1	0	2	0	4	0	4	0	1	2	1	0	1	8	8			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:186655868T>C	ENST00000424728.1	+	16	4005	c.4005T>C	c.(4003-4005)gcT>gcC	p.A1335A	AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Silent_p.A1424A|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1335										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GATTTTTTGCTAATACTGATA	0.328																																																	0																																										SO:0001819	synonymous_variant	0			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.4005T>C	2.37:g.186655868T>C			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.A1424	ENST00000424728.1	37	c.4272		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.328	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	31	0	T	NM_173651		186655868	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.000	C	C	186655868	T	C	186655868	2	2	178	1	0	0	0	0	0	0	0	1	6099	1509	53	4		4	FSIP2	2	186655868	Silent	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	16064062	186655868	56543505	34	44237											
DNAH7	56171	genome.wustl.edu	37	chr2	196746602	196746602	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagcaattccattaatgCagagtatcgaattgtgtcca	12	12	9	8	1	1	1	1	0	0	1	4	2	3	1	2	1	2	3	2	1	4	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:196746602C>G	ENST00000312428.6	-	36	5978	c.5878G>C	c.(5878-5880)Gca>Cca	p.A1960P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1960	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCATTAATGCAGAGTATCGA	0.378																																																	0													175	160	164					2																	196746602		1850	4089	5939	SO:0001583	missense	0			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.5878G>C	2.37:g.196746602C>G	ENSP00000311273:p.Ala1960Pro		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.A1960P	ENST00000312428.6	37	c.5878	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173237	0.38413	.	.	ENSG00000118997	ENST00000312428	T	0.35789	1.29	5.24	2.28	0.28536	.	0.399455	0.26122	N	0.026208	T	0.43590	0.1254	M	0.80982	2.52	0.09310	N	1	P	0.41265	0.744	P	0.46850	0.529	T	0.38308	-0.9667	10	0.72032	D	0.01	.	5.0706	0.14604	0.1824:0.5597:0.0:0.2579	.	1960	Q8WXX0	DYH7_HUMAN	P	1960	ENSP00000311273:A1960P	ENSP00000311273:A1960P	A	-	1	0	DNAH7	196454847	0.000000	0.05858	0.375000	0.26029	0.936000	0.57629	0.169000	0.16641	0.789000	0.33779	-0.224000	0.12420	GCA	DNAH7	-	superfamily_P-loop_NTPase	ENSG00000118997		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	93	0	C	NM_018897		196746602	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	23.68	58	18	SNP	0.002	G	G	196746602	C	G	196746602	3	3	178	1	0	0	0	0	1	0	0	0	4620	710	25	5	6316	5	DNAH7	2	196746602	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	10090734	196746602	46452771	35	44238											
MAP2	4133	genome.wustl.edu	37	chr2	210517948	210517948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcactggacctcagcaccGctaacagaggcatctgcaca	11	6	8	16	1	3	1	2	0	1	1	3	2	3	2	3	2	3	4	3	2	1	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:210517948G>A	ENST00000360351.4	+	4	560	c.54G>A	c.(52-54)ccG>ccA	p.P18P	MAP2_ENST00000199940.6_Silent_p.P18P|MAP2_ENST00000447185.1_Silent_p.P18P|MAP2_ENST00000392194.1_Silent_p.P18P|MAP2_ENST00000361559.4_Silent_p.P18P	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	18					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P18P(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCTCAGCACCGCTAACAGAGG	0.493																																					Pancreas(27;423 979 28787 29963)												2	Substitution - coding silent(2)	endometrium(2)											95	68	77					2																	210517948		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.54G>A	2.37:g.210517948G>A			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.P18	ENST00000360351.4	37	c.54	CCDS2384.1	2																																																																																			MAP2	-	NULL	ENSG00000078018		0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2		0	100	0	G	NM_001039538		210517948	1			no_errors	ENST00000360351	ensembl	human	known	74_37	silent	5.77	49	3	SNP	0.012	A	A	210517948	G	A	210517948	2	1	178	1	0	0	0	0	0	0	0	1	9273	1074	38	1		1	MAP2	2	210517948	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	13771346	210517948	32681425	36	44239											
CPS1	1373	genome.wustl.edu	37	chr2	211421465	211421465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaatcatcaaaatgacgaGgattttgacagctttcaaag	17	10	7	7	1	3	2	3	2	0	0	3	4	3	3	0	1	1	1	0	1	4	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:211421465G>A	ENST00000233072.5	+	1	204	c.8G>A	c.(7-9)aGg>aAg	p.R3K	CPS1_ENST00000430249.2_Missense_Mutation_p.R9K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	3					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)	AAAATGACGAGGATTTTGACA	0.338																																																	0													77	79	79					2																	211421465		2203	4298	6501	SO:0001583	missense	0			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.8G>A	2.37:g.211421465G>A	ENSP00000233072:p.Arg3Lys		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.R9K	ENST00000233072.5	37	c.26	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839694	0.32513	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000544169;ENST00000536125	D;D;D;D;D	0.97575	-3.12;-3.12;-3.31;-4.44;-4.44	5.78	5.78	0.91487	.	0.045063	0.85682	D	0.000000	D	0.92557	0.7636	N	0.12182	0.205	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	D	0.88290	0.2942	10	0.30854	T	0.27	2.5512	16.7312	0.85435	0.0:0.0:1.0:0.0	.	13;3	Q59HF8;P31327	.;CPSM_HUMAN	K	3;3;9;9;11;3;3;3	ENSP00000388496:R3K;ENSP00000430697:R3K;ENSP00000430644:R9K;ENSP00000402608:R9K;ENSP00000233072:R3K	ENSP00000233072:R3K	R	+	2	0	CPS1	211129710	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.446000	0.66600	2.706000	0.92434	0.655000	0.94253	AGG	CPS1	-	NULL	ENSG00000021826		0.338	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0	92	0	G			211421465	1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	28.79	47	19	SNP	1.000	A	A	211421465	G	A	211421465	3	1	178	1	0	0	0	0	1	0	0	0	3830	1000	35	3	32	3	CPS1	2	211421465	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	903517	211421465	31777908	37	44240											
MARCH4	57574	genome.wustl.edu	37	chr2	217234789	217234789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggggctgggggtcgccGtgcatgggcaggggcgcttg	2	6	23	10	4	0	0	0	0	0	0	1	0	0	0	2	8	1	4	2	8	0	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:217234789G>A	ENST00000273067.4	-	1	1961	c.195C>T	c.(193-195)caC>caT	p.H65H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	65	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGGGGTCGCCGTGCATGGGCA	0.692																																																	0													6	7	6					2																	217234789		2153	4177	6330	SO:0001819	synonymous_variant	0			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.195C>T	2.37:g.217234789G>A			Q4KMN7|Q86WR8	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.H65	ENST00000273067.4	37	c.195	CCDS33376.1	2																																																																																			MARCH4	-	NULL	ENSG00000144583		0.692	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	-	0	46	0	G	NM_020814		217234789	-1	tier1	-	no_errors	ENST00000273067	ensembl	human	known	74_37	silent	21.62	29	8	SNP	1.000	A	A	217234789	G	A	217234789	2	1	178	1	0	0	0	0	0	0	0	1	9341	1136	40	1		1	MARCH4	2	217234789	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	5813324	217234789	25964584	38	44241											
PTPRN	5798	genome.wustl.edu	37	chr2	220155604	220155604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggtgccggtcctccccGcaccatcactgaaacaggag	9	7	11	14	2	1	1	1	1	0	0	3	2	3	2	5	3	2	2	5	3	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:220155604G>A	ENST00000295718.2	-	21	2978	c.2738C>T	c.(2737-2739)gCg>gTg	p.A913V	PTPRN_ENST00000423636.2_Missense_Mutation_p.A823V|PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000409251.3_Missense_Mutation_p.A884V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	913	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		GGTCCTCCCCGCACCATCACT	0.617																																																	0													86	75	79					2																	220155604		2203	4300	6503	SO:0001583	missense	0				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.2738C>T	2.37:g.220155604G>A	ENSP00000295718:p.Ala913Val		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A913V	ENST00000295718.2	37	c.2738	CCDS2440.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.043611|4.043611	0.75732|0.75732	.|.	.|.	ENSG00000054356|ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666|ENST00000443981	D;D;D|.	0.81579|.	-1.51;-1.51;-1.51|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);|.	0.059006|.	0.64402|.	D|.	0.000002|.	T|T	0.31071|0.31071	0.0785|0.0785	N|N	0.01761|0.01761	-0.735|-0.735	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.938|.	P;B|.	0.59643|.	0.861;0.269|.	T|T	0.28170|0.28170	-1.0052|-1.0052	10|5	0.25106|.	T|.	0.35|.	.|.	16.7322|16.7322	0.85438|0.85438	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	884;913|.	Q6NSL1;Q16849|.	.;PTPRN_HUMAN|.	V|W	884;913;884;823|116	ENSP00000386638:A884V;ENSP00000295718:A913V;ENSP00000444244:A823V|.	ENSP00000295718:A913V|.	A|R	-|-	2|1	0|2	PTPRN|PTPRN	219863848|219863848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.807000|0.807000	0.45602|0.45602	9.225000|9.225000	0.95219|0.95219	2.471000|2.471000	0.83476|0.83476	0.561000|0.561000	0.74099|0.74099	GCG|CGG	PTPRN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000054356		0.617	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2		0	65	0	G			220155604	-1			no_errors	ENST00000295718	ensembl	human	known	74_37	missense	5.00	37	2	SNP	0.999	A	A	220155604	G	A	220155604	3	1	178	1	0	0	0	0	1	0	0	0	12852	1087	38	1	213	1	PTPRN	2	220155604	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	2920815	220155604	23043769	39	44242											
NEU4	129807	genome.wustl.edu	37	chr2	242757506	242757506	+	Missense_Mutation	SNP	A	A	G	1	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	gatctgccggaccagccctcActccttcgccttctacagcg	6	9	8	18	3	3	0	1	0	2	0	5	2	4	1	5	1	4	0	5	1	1	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr2:242757506A>G	ENST00000391969.2	+	5	1298	c.587A>G	c.(586-588)cAc>cGc	p.H196R	NEU4_ENST00000405370.1_Missense_Mutation_p.H196R|NEU4_ENST00000325935.6_Missense_Mutation_p.H209R|NEU4_ENST00000407683.1_Missense_Mutation_p.H196R|NEU4_ENST00000404257.1_Missense_Mutation_p.H208R	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	196					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0825)		ACCAGCCCTCACTCCTTCGCC	0.687																																																	0													89	59	69					2																	242757506		2201	4299	6500	SO:0001583	missense	0			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.587A>G	2.37:g.242757506A>G	ENSP00000375830:p.His196Arg		A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	superfamily_Sialidases	p.H209R	ENST00000391969.2	37	c.626	CCDS54442.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.78|14.78	2.636262|2.636262	0.47049|0.47049	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288|ENST00000415936;ENST00000426032	D;D;D;D;D;D|T;T	0.86097|0.33438	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07|1.41;1.41	4.55|4.55	4.55|4.55	0.56014|0.56014	Neuraminidase (2);|.	0.161489|.	0.56097|.	D|.	0.000040|.	T|T	0.36799|0.36799	0.0980|0.0980	L|L	0.48986|0.48986	1.54|1.54	0.46260|0.46260	D|D	0.998955|0.998955	B;B;B|.	0.31413|.	0.322;0.275;0.167|.	B;B;B|.	0.32980|.	0.156;0.096;0.117|.	T|T	0.13710|0.13710	-1.0499|-1.0499	10|7	0.51188|0.49607	T|T	0.08|0.09	-25.94|-25.94	8.634|8.634	0.33936|0.33936	0.9129:0.0:0.0871:0.0|0.9129:0.0:0.0871:0.0	.|.	208;208;196|.	A8K211;Q8WWR8-2;Q8WWR8|.	.;.;NEUR4_HUMAN|.	R|A	196;196;206;208;196;209;196|111;123	ENSP00000385402:H196R;ENSP00000384804:H196R;ENSP00000385149:H208R;ENSP00000375830:H196R;ENSP00000320318:H209R;ENSP00000388707:H196R|ENSP00000397167:T111A;ENSP00000406678:T123A	ENSP00000320318:H209R|ENSP00000397167:T111A	H|T	+|+	2|1	0|0	NEU4|NEU4	242406179|242406179	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.960000|0.960000	0.62799|0.62799	3.493000|3.493000	0.53266|0.53266	1.688000|1.688000	0.51068|0.51068	0.364000|0.364000	0.22116|0.22116	CAC|ACT	NEU4	-	superfamily_Sialidases	ENSG00000204099		0.687	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NEU4	HGNC	protein_coding	OTTHUMT00000257270.2	-	0	38	0	A	NM_080741		242757506	1	tier1	-	no_errors	ENST00000325935	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.963	G	G	242757506	A	G	242757506	3	3	178	1	0	0	0	0	1	0	0	0	10383	159	6	4	640	4	NEU4	2	242757506	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	22601902	242757506	441867	40	44243											
SCN11A	11280	genome.wustl.edu	37	chr3	38924792	38924792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgtgtttcactatttGgtagcaggttttccgcaggt	6	15	11	9	1	1	0	1	0	0	0	2	0	2	0	2	3	2	6	2	3	2	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:38924792G>T	ENST00000302328.3	-	18	3349	c.3151C>A	c.(3151-3153)Caa>Aaa	p.Q1051K	SCN11A_ENST00000444237.2_Missense_Mutation_p.Q1051K|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q1013K|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q1051K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1051					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)	TTCACTATTTGGTAGCAGGTT	0.463																																																	0													120	110	114					3																	38924792		2203	4300	6503	SO:0001583	missense	0			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.3151C>A	3.37:g.38924792G>T	ENSP00000307599:p.Gln1051Lys		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.Q1051K	ENST00000302328.3	37	c.3151	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021748	0.19433	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.57	3.66	0.41972	Sodium ion transport-associated (1);	0.133751	0.52532	D	0.000067	T	0.72317	0.3445	L	0.41415	1.275	0.35990	D	0.836644	B	0.12013	0.005	B	0.14578	0.011	T	0.66452	-0.5920	10	0.02654	T	1	.	13.4471	0.61146	0.0:0.0:0.5723:0.4277	.	1051	Q9UI33	SCNBA_HUMAN	K	1051;1051;1013;1051	ENSP00000307599:Q1051K;ENSP00000400945:Q1051K;ENSP00000416757:Q1013K;ENSP00000408028:Q1051K	ENSP00000307599:Q1051K	Q	-	1	0	SCN11A	38899796	0.646000	0.27295	1.000000	0.80357	0.978000	0.69477	0.724000	0.25954	1.470000	0.48102	-0.181000	0.13052	CAA	SCN11A	-	pfam_Na_trans_assoc	ENSG00000168356		0.463	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0	68	0	G	NM_014139		38924792	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	42.55	27	20	SNP	0.974	T	T	38924792	G	T	38924792	3	4	178	1	0	0	0	0	1	0	0	0	13958	1357	47	3	2260	3	SCN11A	3	38924792	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09		38924792	159097638	41	44244											
SCN11A	11280	genome.wustl.edu	37	chr3	38938526	38938526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagactgtcgggcctgtcGggttacagagttttggactc	7	12	14	8	2	0	2	0	1	0	2	3	4	0	3	1	3	1	2	1	3	1	3	rs140995438	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:38938526G>T	ENST00000302328.3	-	14	2411	c.2213C>A	c.(2212-2214)cCg>cAg	p.P738Q	SCN11A_ENST00000444237.2_Missense_Mutation_p.P738Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.P738Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.P738Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	738					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.P738Q(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)	CGGGCCTGTCGGGTTACAGAG	0.498																																																	1	Substitution - Missense(1)	lung(1)											100	92	95					3																	38938526		2203	4300	6503	SO:0001583	missense	0			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.2213C>A	3.37:g.38938526G>T	ENSP00000307599:p.Pro738Gln		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.P738Q	ENST00000302328.3	37	c.2213	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	0.091	-1.167832	0.01660	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96232	-3.95;-3.95;-3.89;-3.76	0.225	-0.451	0.12214	Ion transport (1);	17.326200	0.00166	U	0.000001	D	0.95050	0.8397	M	0.81112	2.525	0.09310	N	1	B	0.31730	0.337	B	0.24974	0.057	T	0.81839	-0.0748	10	0.87932	D	0	.	4.3094	0.10964	0.305:0.0:0.695:0.0	.	738	Q9UI33	SCNBA_HUMAN	Q	738	ENSP00000307599:P738Q;ENSP00000400945:P738Q;ENSP00000416757:P738Q;ENSP00000408028:P738Q	ENSP00000307599:P738Q	P	-	2	0	SCN11A	38913530	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.572000	0.05881	-0.709000	0.05008	-0.704000	0.03662	CCG	SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.498	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0	70	0	G	NM_014139		38938526	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	9.09	49	5	SNP	0.002	T	T	38938526	G	T	38938526	3	4	178	1	0	0	0	0	1	0	0	0	13958	1116	39	2	3214	2	SCN11A	3	38938526	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	13734	38938526	159083904	42	44245											
XIRP1	165904	genome.wustl.edu	37	chr3	39228955	39228958	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															gaggctcggtctcaaagacgTgtctgtctgtctgtctttcc																								rs374062592		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	TGTC	TGTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:39228955_39228958delTGTC	ENST00000340369.3	-	2	2207_2210	c.1979_1982delGACA	c.(1978-1983)agacacfs	p.RH660fs	XIRP1_ENST00000396251.1_Frame_Shift_Del_p.RH660fs|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	660					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)		CTCAAAGACGTGTCTGTCTGTCTG	0.618																																																	0																																										SO:0001589	frameshift_variant	0			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.1979_1982delGACA	3.37:g.39228963_39228966delTGTC	ENSP00000343140:p.Arg660fs		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Frame_Shift_Del	DEL	pfam_Actin-binding_Xin_repeat	p.R660fs	ENST00000340369.3	37	c.1982_1979	CCDS2683.1	3																																																																																			XIRP1	-	NULL	ENSG00000168334		0.618	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1		0	55	0	TGTC	XM_093522		39228958	-1	tier1		no_errors	ENST00000340369	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.972:0.971:0.398:0.360	-	-	39228958	TGTC	-	39228955	7	5	178	1	0	1	0	1	0	0	0	0	17478	1696	59	0	3553	0	XIRP1	3	39228955	Frame_Shift_Del	DEL	TGTC	TCGA-XP-A8T6-01A-11D-A36J-09	290429	39228955	158793475	43	44246											
P4HTM	54681	genome.wustl.edu	37	chr3	49041623	49041623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagtccagtgagctggtgCggaacagccaccatacctgg	10	6	13	12	1	0	2	0	1	0	1	1	3	1	3	4	3	5	1	4	3	2	1	rs199611252	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:49041623C>T	ENST00000383729.4	+	5	1188	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	P4HTM_ENST00000343546.4_Missense_Mutation_p.R273W|WDR6_ENST00000395474.3_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	273						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|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)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGAGCTGGTGCGGAACAGCCA	0.587													C|||	2	0.000399361	0	0	5008	,	,		19391	0		0.002	False		,,,				2504	0																0								C	TRP/ARG,TRP/ARG	0,4228		0,0,2114	37	26	30		817,817	3.9	1	3		30	1,8233		0,1,4116	yes	missense,missense	P4HTM	NM_177938.2,NM_177939.2	101,101	0,1,6230	TT,TC,CC		0.0121,0.0,0.0080	probably-damaging,probably-damaging	273/564,273/503	49041623	1,12461	2114	4117	6231	SO:0001583	missense	0				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.817C>T	3.37:g.49041623C>T	ENSP00000373235:p.Arg273Trp		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R273W	ENST00000383729.4	37	c.817	CCDS43089.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077993|4.077993	0.76528|0.76528	0.0|0.0	1.21E-4|1.21E-4	ENSG00000178467|ENSG00000178467	ENST00000444213|ENST00000383729;ENST00000343546	.|D	.|0.88818	.|-2.43	5.76|5.76	3.9|3.9	0.45041|0.45041	.|Prolyl 4-hydroxylase, alpha subunit (1);	.|0.105481	.|0.64402	.|D	.|0.000005	D|D	0.92619|0.92619	0.7655|0.7655	L|L	0.59436|0.59436	1.845|1.845	0.42438|0.42438	D|D	0.992705|0.992705	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.984;0.995	D|D	0.92715|0.92715	0.6186|0.6186	5|10	.|0.87932	.|D	.|0	-31.9241|-31.9241	13.6246|13.6246	0.62157|0.62157	0.4198:0.5802:0.0:0.0|0.4198:0.5802:0.0:0.0	.|.	.|273;273	.|Q9NXG6-3;Q9NXG6	.|.;P4HTM_HUMAN	V|W	202|273	.|ENSP00000373235:R273W	.|ENSP00000341422:R273W	A|R	+|+	2|1	0|2	P4HTM|P4HTM	49016627|49016627	0.592000|0.592000	0.26832|0.26832	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.632000|0.632000	0.24583|0.24583	0.717000|0.717000	0.32145|0.32145	0.655000|0.655000	0.94253|0.94253	GCG|CGG	P4HTM	-	smart_Pro_4_hyd_alph	ENSG00000178467		0.587	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HTM	HGNC	protein_coding	OTTHUMT00000157211.1	-	0	20	0	C	NM_177938		49041623	1	tier1	rs199611252	no_errors	ENST00000343546	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.998	T	T	49041623	C	T	49041623	3	4	178	1	0	0	0	0	1	0	0	0	11399	759	27	1	835	1	P4HTM	3	49041623	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	9812668	49041623	148980807	44	44247											
FHIT	2272	genome.wustl.edu	37	chr3	59997128	59997128	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccggcttcggggccatccTagaagtaggaaaaaaccaac	13	6	11	11	2	0	1	0	0	0	1	3	2	2	2	4	4	2	2	4	4	7	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:59997128T>C	ENST00000468189.1	-	7	620		c.e7-2		FHIT_ENST00000466788.1_Splice_Site|FHIT_ENST00000341848.4_Splice_Site|FHIT_ENST00000492590.1_Splice_Site|FHIT_ENST00000476844.1_Splice_Site			P49789	FHIT_HUMAN	fragile histidine triad						DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GGGGCCATCCTAGAAGTAGGA	0.368			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																															Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	0													70	76	74					3																	59997128		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database		BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"fragile histidine triad gene"			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.250-2A>G	3.37:g.59997128T>C			A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Splice_Site	SNP	-	e3-2	ENST00000468189.1	37	c.250-2	CCDS2894.1	3	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852989	0.71719	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9024	0.63812	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FHIT	59972168	1.000000	0.71417	0.989000	0.46669	0.961000	0.63080	3.338000	0.52128	2.042000	0.60477	0.482000	0.46254	.	FHIT	-	-	ENSG00000189283		0.368	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FHIT	HGNC	protein_coding	OTTHUMT00000351648.1	-	0	72	0	T	NM_002012	Intron	59997128	-1	tier1	-	no_errors	ENST00000341848	ensembl	human	known	74_37	splice_site	30.77	36	16	SNP	1.000	C	C	59997128	T	C	59997128	5	2	178	1	0	0	0	0	0	0	1	0	5899	1536	53	4	207	4	FHIT	3	59997128	Splice_Site	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	10955505	59997128	138025302	45	44248											
ATXN7	6314	genome.wustl.edu	37	chr3	63898360	63898361	+	In_Frame_Ins	INS	-	-	GCAGCA																															gcagcggccgcggccgcccgINSgcagcagcagcagcagcagc																								rs576518931	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:63898360_63898361insGCAGCA	ENST00000295900.6	+	3	636_637	c.86_87insGCAGCA	c.(85-90)cggcag>cgGCAGCAgcag	p.38_39insQQ	ATXN7_ENST00000487717.1_In_Frame_Ins_p.38_39insQQ|ATXN7_ENST00000398590.3_In_Frame_Ins_p.38_39insQQ|ATXN7_ENST00000538065.1_In_Frame_Ins_p.38_39insQQ	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	38	Gln-rich.|Poly-Gln.				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)		gcggccgcccggcagcagcagc	0.797														107	0.0213658	0.0091	0.0231	5008	,	,		3374	0.004		0.0308	False		,,,				2504	0.045																0																																										SO:0001652	inframe_insertion	0			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.111_116dupGCAGCA	3.37:g.63898361_63898366dupGCAGCA	ENSP00000295900:p.Gln37_Gln38dup		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	In_Frame_Ins	INS	pfam_SCA7_dom	p.33in_frame_insQQ	ENST00000295900.6	37	c.86_87	CCDS43102.1	3																																																																																			ATXN7	-	NULL	ENSG00000163635		0.797	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	HGNC	protein_coding	OTTHUMT00000352070.1		0	8	0	0	NM_000333		63898361	1			no_errors	ENST00000398590	ensembl	human	known	74_37	in_frame_ins	33.33	4	2	INS	1.000:1.000	GCAGCA	GCAGCA	63898361	-	GCAGCA	63898360	7	5	178	1	0	1	1	0	0	0	0	0	1216	1116	39	0	88	0	ATXN7	3	63898360	In_Frame_Ins	INS	-	TCGA-XP-A8T6-01A-11D-A36J-09	3901232	63898360	134124070	46	44249											
MYH15	22989	genome.wustl.edu	37	chr3	108133184	108133184	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ataaggtccggtgcagctcaGccttgacctcttgttcttcc	6	13	9	13	1	3	1	1	1	2	0	5	1	5	1	4	2	3	3	4	2	1	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:108133184G>T	ENST00000273353.3	-	31	4156	c.4100C>A	c.(4099-4101)gCt>gAt	p.A1367D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1367						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						GTGCAGCTCAGCCTTGACCTC	0.507																																																	0													156	151	153					3																	108133184		2071	4208	6279	SO:0001583	missense	0			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.4100C>A	3.37:g.108133184G>T	ENSP00000273353:p.Ala1367Asp			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.A1367D	ENST00000273353.3	37	c.4100	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072263	0.55646	.	.	ENSG00000144821	ENST00000273353	T	0.78707	-1.2	5.26	1.22	0.21188	Myosin tail (1);	.	.	.	.	T	0.81235	0.4780	M	0.76838	2.35	0.39373	D	0.966114	P	0.37276	0.589	P	0.47786	0.557	T	0.79276	-0.1870	9	0.87932	D	0	.	8.4031	0.32599	0.1342:0.2374:0.6284:0.0	.	1367	Q9Y2K3	MYH15_HUMAN	D	1367	ENSP00000273353:A1367D	ENSP00000273353:A1367D	A	-	2	0	MYH15	109615874	0.589000	0.26807	0.024000	0.17045	0.616000	0.37450	1.068000	0.30629	0.004000	0.14682	-0.150000	0.13652	GCT	MYH15	-	pfam_Myosin_tail	ENSG00000144821		0.507	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	-	0	60	0	G	XM_036988		108133184	-1	tier1	-	no_errors	ENST00000273353	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.736	T	T	108133184	G	T	108133184	3	4	178	1	0	0	0	0	1	0	0	0	10072	971	34	3	1788	3	MYH15	3	108133184	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	44234824	108133184	89889246	47	44250											
PLA1A	51365	genome.wustl.edu	37	chr3	119325794	119325794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggttcaatgccactctgGgaaccaaactaattatccat	12	11	7	11	0	2	0	1	0	1	0	3	1	3	1	3	2	3	1	3	2	5	3	rs141940849		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:119325794G>A	ENST00000273371.4	+	2	319	c.247G>A	c.(247-249)Gga>Aga	p.G83R	PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000495992.1_Missense_Mutation_p.G83R|PLA1A_ENST00000494440.1_Missense_Mutation_p.G67R	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	83					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						TGCCACTCTGGGAACCAAACT	0.428																																																	0								G	ARG/GLY,,ARG/GLY	0,4406		0,0,2203	128	135	133		247,,247	4.7	1	3	dbSNP_134	133	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,missense	PLA1A	NM_001206960.1,NM_001206961.1,NM_015900.3	125,,125	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,,benign	83/441,,83/457	119325794	2,13004	2203	4300	6503	SO:0001583	missense	0			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.247G>A	3.37:g.119325794G>A	ENSP00000273371:p.Gly83Arg		B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.G83R	ENST00000273371.4	37	c.247	CCDS2991.1	3	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132392	0.37630	0.0	2.33E-4	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.90504	-2.68;-2.68;-2.68	4.67	4.67	0.58626	Lipase, N-terminal (1);	0.211539	0.49916	D	0.000131	D	0.88489	0.6450	N	0.12611	0.24	0.35835	D	0.825574	D;D	0.56287	0.968;0.975	P;P	0.58454	0.751;0.839	D	0.90854	0.4733	10	0.42905	T	0.14	-7.4212	14.953	0.71088	0.0:0.0:1.0:0.0	.	83;83	Q53H76-3;Q53H76	.;PLA1A_HUMAN	R	83;83;67	ENSP00000273371:G83R;ENSP00000417326:G83R;ENSP00000418793:G67R	ENSP00000273371:G83R	G	+	1	0	PLA1A	120808484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.260000	0.43267	2.595000	0.87683	0.655000	0.94253	GGA	PLA1A	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	ENSG00000144837		0.428	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	HGNC	protein_coding	OTTHUMT00000355252.2	-	0	44	0	G			119325794	1	tier1	rs141940849	no_errors	ENST00000273371	ensembl	human	known	74_37	missense	62.07	11	18	SNP	1.000	A	A	119325794	G	A	119325794	3	1	178	1	0	0	0	0	1	0	0	0	12027	1233	43	3	253	3	PLA1A	3	119325794	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	11192610	119325794	78696636	48	44251											
GOLGB1	2804	genome.wustl.edu	37	chr3	121437303	121437303	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacctgagcacggcccaccaAggattcttcgtgttcctcaa	9	9	9	14	2	2	1	1	1	1	0	4	3	3	2	4	2	1	2	4	2	2	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:121437303A>C	ENST00000340645.5	-	8	927	c.802T>G	c.(802-804)Ttg>Gtg	p.L268V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L273V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	268					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)		CGGCCCACCAAGGATTCTTCG	0.453																																																	0													116	111	113					3																	121437303		2203	4300	6503	SO:0001583	missense	0			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.802T>G	3.37:g.121437303A>C	ENSP00000341848:p.Leu268Val		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.L268V	ENST00000340645.5	37	c.802	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459847	0.43736	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.55588	0.95;0.96;0.51	5.06	1.25	0.21368	.	0.000000	0.46145	D	0.000301	T	0.65165	0.2665	M	0.78049	2.395	0.34388	D	0.693871	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998	D;D;D;D;D	0.83275	0.996;0.99;0.996;0.99;0.996	T	0.67484	-0.5659	10	0.27082	T	0.32	.	6.412	0.21696	0.6526:0.0:0.3474:0.0	.	193;232;273;273;268	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	V	268;273;232;80	ENSP00000341848:L268V;ENSP00000377275:L273V;ENSP00000418231:L232V	ENSP00000341848:L268V	L	-	1	2	GOLGB1	122919993	1.000000	0.71417	0.714000	0.30535	0.990000	0.78478	1.100000	0.31025	0.150000	0.19136	0.533000	0.62120	TTG	GOLGB1	-	NULL	ENSG00000173230		0.453	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0	72	0	A	NM_004487		121437303	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	46.77	33	29	SNP	0.838	C	C	121437303	A	C	121437303	3	2	178	1	0	0	0	0	1	0	0	0	6591	69	3	4	9037	4	GOLGB1	3	121437303	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	2111509	121437303	76585127	49	44252											
MCM2	4171	genome.wustl.edu	37	chr3	127325075	127325075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagatctttgatgaggctgCcctggaggtggtactggcca	7	10	15	9	0	1	3	0	2	1	1	1	4	1	4	2	5	2	3	2	5	1	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:127325075C>T	ENST00000265056.7	+	5	1032	c.788C>T	c.(787-789)gCc>gTc	p.A263V		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	263					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						GATGAGGCTGCCCTGGAGGTG	0.617																																																	0													167	143	151					3																	127325075		2203	4300	6503	SO:0001583	missense	0			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.788C>T	3.37:g.127325075C>T	ENSP00000265056:p.Ala263Val		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase	p.A263V	ENST00000265056.7	37	c.788	CCDS3043.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.137259|5.137259	0.94517|0.94517	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.09163|.	3.01|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Nucleic acid-binding, OB-fold-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78629|0.78629	0.4313|0.4313	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;B;P|.	0.71674|.	0.998;0.343;0.598|.	D;B;B|.	0.76071|.	0.987;0.176;0.282|.	T|T	0.79914|0.79914	-0.1602|-0.1602	10|5	0.66056|.	D|.	0.02|.	-34.8937|-34.8937	18.5426|18.5426	0.91035|0.91035	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	244;133;263|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	V|S	263;167;244|126	ENSP00000265056:A263V|.	ENSP00000265056:A263V|.	A|P	+|+	2|1	0|0	MCM2|MCM2	128807765|128807765	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	6.003000|6.003000	0.70701|0.70701	2.363000|2.363000	0.80096|0.80096	0.591000|0.591000	0.81541|0.81541	GCC|CCC	MCM2	-	superfamily_NA-bd_OB-fold	ENSG00000073111		0.617	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM2	HGNC	protein_coding	OTTHUMT00000356612.1		0	71	0	C			127325075	1			no_errors	ENST00000265056	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	127325075	C	T	127325075	3	4	178	1	0	0	0	0	1	0	0	0	9424	739	26	3	806	3	MCM2	3	127325075	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	5887772	127325075	70697355	50	44253											
MRPL3	11222	genome.wustl.edu	37	chr3	131181670	131181670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaatatgtagggaatGgtagatttttaccgagatcc	14	11	11	5	1	0	2	0	0	0	2	1	5	1	4	2	3	1	2	2	3	7	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:131181670G>T	ENST00000264995.3	-	10	1091	c.944C>A	c.(943-945)cCa>cAa	p.P315Q	MRPL3_ENST00000425847.2_Missense_Mutation_p.P342Q	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	315					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGTAGGGAATGGTAGATTTTT	0.398																																																	0													106	109	108					3																	131181670		2203	4300	6503	SO:0001583	missense	0			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"Mitochondrial ribosomal proteins / large subunits"	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.944C>A	3.37:g.131181670G>T	ENSP00000264995:p.Pro315Gln		Q6IBT2	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_B-barrel,tigrfam_Ribosomal_L3_bac/org-type	p.P315Q	ENST00000264995.3	37	c.944	CCDS3071.1	3	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441279	0.83993	.	.	ENSG00000114686	ENST00000264995;ENST00000425847	T;T	0.48201	0.82;0.82	5.26	5.26	0.73747	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.977	T	0.76473	-0.2946	10	0.72032	D	0.01	-10.7494	17.6402	0.88133	0.0:0.0:1.0:0.0	.	342;315	E7ETU7;P09001	.;RM03_HUMAN	Q	315;342	ENSP00000264995:P315Q;ENSP00000398536:P342Q	ENSP00000264995:P315Q	P	-	2	0	MRPL3	132664360	1.000000	0.71417	0.810000	0.32431	0.921000	0.55340	7.689000	0.84165	2.442000	0.82660	0.585000	0.79938	CCA	MRPL3	-	superfamily_Transl_B-barrel	ENSG00000114686		0.398	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL3	HGNC	protein_coding	OTTHUMT00000356471.3	-	0	54	0	G	NM_007208		131181670	-1	tier1	-	no_errors	ENST00000264995	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.999	T	T	131181670	G	T	131181670	3	4	178	1	0	0	0	0	1	0	0	0	9831	1348	47	3	106	3	MRPL3	3	131181670	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	3856595	131181670	66840760	51	44254											
SLITRK3	22865	genome.wustl.edu	37	chr3	164907746	164907746	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgtggaattcccaaactAgcctctacctcagagtcaga	13	9	8	11	0	3	2	2	0	1	2	4	4	4	3	3	1	3	0	3	1	5	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr3:164907746A>T	ENST00000475390.1	-	2	1316	c.873T>A	c.(871-873)gcT>gcA	p.A291A	SLITRK3_ENST00000241274.3_Silent_p.A291A			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	291					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTCCCAAACTAGCCTCTACCT	0.458										HNSCC(40;0.11)																																							0													97	102	100					3																	164907746		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.873T>A	3.37:g.164907746A>T			Q1RMY6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A291	ENST00000475390.1	37	c.873	CCDS3197.1	3																																																																																			SLITRK3	-	NULL	ENSG00000121871		0.458	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0	67	0	A	NM_014926		164907746	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T	T	164907746	A	T	164907746	2	4	178	1	0	0	0	0	0	0	0	1	14789	407	15	5		5	SLITRK3	3	164907746	Silent	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	33726076	164907746	33114684	52	44255											
SLC2A9	56606	genome.wustl.edu	37	chr4	9892247	9892247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcacctgcagggtcagcGtgatggtgagggtcccaaag	8	8	15	10	1	2	2	2	2	1	0	4	2	3	2	2	3	2	1	2	3	1	0	rs376668342		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:9892247G>T	ENST00000264784.3	-	9	1255	c.1202C>A	c.(1201-1203)aCg>aAg	p.T401K	SLC2A9_ENST00000506583.1_Missense_Mutation_p.T372K|SLC2A9_ENST00000309065.3_Missense_Mutation_p.T372K	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	401					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)	CAGGGTCAGCGTGATGGTGAG	0.542																																																	0													109	94	99					4																	9892247		2203	4300	6503	SO:0001583	missense	0			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.1202C>A	4.37:g.9892247G>T	ENSP00000264784:p.Thr401Lys		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.T401K	ENST00000264784.3	37	c.1202	CCDS3407.1	4	.	.	.	.	.	.	.	.	.	.	G	7.710	0.694911	0.15039	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.80994	-0.92;-1.44;-0.92	4.99	4.14	0.48551	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.297366	0.37437	N	0.002100	D	0.84593	0.5506	M	0.78456	2.415	0.09310	N	1	P;P	0.39759	0.638;0.687	B;P	0.47470	0.332;0.548	T	0.77474	-0.2574	10	0.72032	D	0.01	.	12.4633	0.55743	0.0897:0.0:0.9103:0.0	.	372;401	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	K	372;401;372	ENSP00000422209:T372K;ENSP00000264784:T401K;ENSP00000311383:T372K	ENSP00000264784:T401K	T	-	2	0	SLC2A9	9501345	0.367000	0.25023	0.001000	0.08648	0.298000	0.27526	3.261000	0.51530	0.529000	0.28599	-1.134000	0.01955	ACG	SLC2A9	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000109667		0.542	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	-	0	55	0	G			9892247	-1	tier1	-	no_errors	ENST00000264784	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.001	T	T	9892247	G	T	9892247	3	4	178	1	0	0	0	0	1	0	0	0	14597	1145	40	2	436	2	SLC2A9	4	9892247	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09		9892247	181262029	53	44256											
ARAP2	116984	genome.wustl.edu	37	chr4	36230983	36230983	+	Missense_Mutation	SNP	A	A	T	1	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	attttctgcagcaggctgtcAtttattgctgcacagtcctt	7	16	8	10	0	2	0	1	0	1	0	3	0	3	0	1	1	4	5	1	1	1	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:36230983A>T	ENST00000303965.4	-	2	615	c.126T>A	c.(124-126)aaT>aaA	p.N42K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	42	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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						GCAGGCTGTCATTTATTGCTG	0.368																																																	0													67	69	68					4																	36230983		2203	4300	6503	SO:0001583	missense	0			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.126T>A	4.37:g.36230983A>T	ENSP00000302895:p.Asn42Lys		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.N42K	ENST00000303965.4	37	c.126	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504605	0.64410	.	.	ENSG00000047365	ENST00000303965;ENST00000506189	T;T	0.45668	0.89;0.89	5.8	4.62	0.57501	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.267762	0.35870	N	0.002926	T	0.53174	0.1780	L	0.51914	1.62	0.37431	D	0.914029	D	0.63880	0.993	P	0.61070	0.883	T	0.60276	-0.7295	10	0.59425	D	0.04	.	11.563	0.50788	0.9307:0.0:0.0693:0.0	.	42	Q8WZ64	ARAP2_HUMAN	K	42	ENSP00000302895:N42K;ENSP00000422731:N42K	ENSP00000302895:N42K	N	-	3	2	ARAP2	35907378	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	1.357000	0.34090	1.037000	0.40024	0.529000	0.55759	AAT	ARAP2	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000047365		0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0	56	0	A	NM_015230		36230983	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	T	T	36230983	A	T	36230983	3	4	178	1	0	0	0	0	1	0	0	0	839	214	8	5	5116	5	ARAP2	4	36230983	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	26338736	36230983	154923293	54	44257											
HNRNPD	3184	genome.wustl.edu	37	chr4	83292697	83292697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttaccattcttcccgctgtgCcgtcgctgcttcagagtgtc	4	14	9	14	3	2	1	1	0	1	1	5	1	3	1	3	0	3	3	3	0	1	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:83292697C>T	ENST00000313899.7	-	2	551	c.274G>A	c.(274-276)Gca>Aca	p.A92T	HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Intron|RP11-127B20.3_ENST00000609552.1_RNA|HNRNPD_ENST00000543098.1_Intron|HNRNPD_ENST00000353341.4_Missense_Mutation_p.A92T|RP11-127B20.3_ENST00000609575.1_RNA	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	92					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						TCCCGCTGTGCCGTCGCTGCT	0.388																																																	0													65	63	64					4																	83292697		2203	4300	6503	SO:0001583	missense	0			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.274G>A	4.37:g.83292697C>T	ENSP00000313199:p.Ala92Thr		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom	p.A92T	ENST00000313899.7	37	c.274	CCDS3592.1	4	.	.	.	.	.	.	.	.	.	.	C	9.830	1.188150	0.21954	.	.	ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000509263;ENST00000507010;ENST00000509107	T;T;D;T;D	0.85629	-0.25;0.03;-2.01;2.25;-2.01	5.85	5.85	0.93711	Nucleotide-binding, alpha-beta plait (1);	0.081014	0.48767	D	0.000170	D	0.86847	0.6031	L	0.31207	0.915	0.80722	D	1	D;P	0.67145	0.996;0.924	D;P	0.73708	0.981;0.827	T	0.82878	-0.0239	10	0.18276	T	0.48	.	15.6578	0.77155	0.0:1.0:0.0:0.0	.	92;92	Q14103-3;Q14103	.;HNRPD_HUMAN	T	92;92;25;92;46	ENSP00000313199:A92T;ENSP00000313327:A92T;ENSP00000420926:A25T;ENSP00000421952:A92T;ENSP00000425439:A46T	ENSP00000313199:A92T	A	-	1	0	HNRNPD	83511721	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	1.137000	0.31479	2.767000	0.95098	0.655000	0.94253	GCA	HNRNPD	-	NULL	ENSG00000138668		0.388	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPD	HGNC	protein_coding	OTTHUMT00000252630.2	-	0	40	0	C	NM_031370		83292697	-1	tier1	-	no_errors	ENST00000313899	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	83292697	C	T	83292697	3	4	178	1	0	0	0	0	1	0	0	0	7291	739	26	3	821	3	HNRNPD	4	83292697	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	47061714	83292697	107861579	55	44258											
HSD17B13	345275	genome.wustl.edu	37	chr4	88239522	88239522	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttctctgttgctgcagtCtaccacatacgcatgcgcag	7	12	8	14	2	3	0	0	0	3	0	4	0	3	0	1	0	5	5	1	0	2	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:88239522C>G	ENST00000328546.4	-	2	341	c.277G>C	c.(277-279)Gac>Cac	p.D93H	HSD17B13_ENST00000302219.6_Intron|RP11-529H2.2_ENST00000508163.1_RNA	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	93						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTGCTGCAGTCTACCACATAC	0.458																																																	0													140	124	129					4																	88239522		2203	4300	6503	SO:0001583	missense	0				CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18685	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 3"	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.277G>C	4.37:g.88239522C>G	ENSP00000333300:p.Asp93His		A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.D93H	ENST00000328546.4	37	c.277	CCDS3618.1	4	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311249	0.60414	.	.	ENSG00000170509	ENST00000328546	D	0.97994	-4.65	4.94	4.08	0.47627	NAD(P)-binding domain (1);	0.079586	0.51477	D	0.000093	D	0.98966	0.9648	H	0.96547	3.84	0.43267	D	0.995215	D	0.89917	1.0	D	0.80764	0.994	D	0.98616	1.0665	10	0.87932	D	0	.	10.9682	0.47424	0.0:0.851:0.0:0.149	.	93	Q7Z5P4	DHB13_HUMAN	H	93	ENSP00000333300:D93H	ENSP00000333300:D93H	D	-	1	0	HSD17B13	88458546	0.988000	0.35896	0.995000	0.50966	0.602000	0.36980	2.781000	0.47750	2.548000	0.85928	0.591000	0.81541	GAC	HSD17B13	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000170509		0.458	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B13	HGNC	protein_coding	OTTHUMT00000253052.1		0	46	0	C	NM_178135		88239522	-1			no_errors	ENST00000328546	ensembl	human	known	74_37	missense	10.87	41	5	SNP	0.993	G	G	88239522	C	G	88239522	3	3	178	1	0	0	0	0	1	0	0	0	7409	913	32	5	649	5	HSD17B13	4	88239522	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	4946825	88239522	102914754	56	44259											
BMPR1B	658	genome.wustl.edu	37	chr4	96075789	96075789	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgcgggttaagaaaacacttGccaaaatgtcagagtcccag	14	8	10	9	1	1	2	1	0	0	2	2	2	2	2	2	1	3	1	2	1	5	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:96075789G>T	ENST00000515059.1	+	13	1757	c.1474G>T	c.(1474-1476)Gcc>Tcc	p.A492S	BMPR1B_ENST00000394931.1_Missense_Mutation_p.A492S|BMPR1B_ENST00000440890.2_Missense_Mutation_p.A522S|BMPR1B_ENST00000264568.4_Missense_Mutation_p.A492S	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	492	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GAAAACACTTGCCAAAATGTC	0.478																																																	0													66	69	68					4																	96075789		2203	4300	6503	SO:0001583	missense	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1474G>T	4.37:g.96075789G>T	ENSP00000426617:p.Ala492Ser		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.A522S	ENST00000515059.1	37	c.1564	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515082	0.44763	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;T;D;D	0.81499	-1.5;-1.5;-1.5;-1.47;-1.5;-1.5	5.93	5.93	0.95920	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	N	0.13043	0.29	0.80722	D	1	B	0.24618	0.107	B	0.33846	0.171	T	0.64334	-0.6432	10	0.02654	T	1	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	492	O00238	BMR1B_HUMAN	S	492;492;492;522;492;492	ENSP00000426617:A492S;ENSP00000425444:A492S;ENSP00000421671:A492S;ENSP00000401907:A522S;ENSP00000264568:A492S;ENSP00000378389:A492S	ENSP00000264568:A492S	A	+	1	0	BMPR1B	96294812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.635000	0.83286	2.814000	0.96858	0.591000	0.81541	GCC	BMPR1B	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000138696		0.478	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3		0	52	0	G	NM_001203		96075789	1			no_errors	ENST00000440890	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	96075789	G	T	96075789	3	4	178	1	0	0	0	0	1	0	0	0	1472	1319	46	3	1512	3	BMPR1B	4	96075789	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	7836267	96075789	95078487	57	44260											
AGXT2L1	64850	genome.wustl.edu	37	chr4	109667932	109667932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattacttgtagatgatgtgCtgagcttcagctgtggcagg	9	13	13	6	0	1	3	1	2	0	1	1	3	1	3	0	2	4	5	0	2	3	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:109667932C>T	ENST00000296486.3	-	10	1312	c.1158G>A	c.(1156-1158)caG>caA	p.Q386Q	ETNPPL_ENST00000411864.2_Silent_p.Q380Q|ETNPPL_ENST00000510706.1_Silent_p.Q346Q|ETNPPL_ENST00000512646.1_Silent_p.Q328Q	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	386						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										AGATGATGTGCTGAGCTTCAG	0.488																																																	0													239	240	240					4																	109667932		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1158G>A	4.37:g.109667932C>T			B7Z1Y0|E9PBY0|Q9H174	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.Q386	ENST00000296486.3	37	c.1158	CCDS3682.1	4																																																																																			ETNPPL	-	superfamily_PyrdxlP-dep_Trfase	ENSG00000164089		0.488	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ETNPPL	HGNC	protein_coding	OTTHUMT00000363508.1		0	60	0	C	NM_031279		109667932	-1			no_errors	ENST00000296486	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.989	T	T	109667932	C	T	109667932	2	4	178	1	0	0	0	0	0	0	0	1	406	796	28	3		3	AGXT2L1	4	109667932	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	13592143	109667932	81486344	58	44261											
PCDH18	54510	genome.wustl.edu	37	chr4	138453100	138453100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacatcagccacatcctctGatagtcttgcaattactgat	13	12	5	11	0	3	2	1	2	2	0	4	2	4	2	2	0	4	1	2	0	4	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:138453100G>A	ENST00000344876.4	-	1	529	c.143C>T	c.(142-144)tCa>tTa	p.S48L	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S48L|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	48	Cadherin 1. {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)					CACATCCTCTGATAGTCTTGC	0.413																																																	0													138	135	136					4																	138453100		2203	4300	6503	SO:0001583	missense	0			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.143C>T	4.37:g.138453100G>A	ENSP00000355082:p.Ser48Leu		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S48L	ENST00000344876.4	37	c.143	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633601	0.67015	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.27104	1.69;1.69	5.57	5.57	0.84162	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.215683	0.23321	U	0.049454	T	0.25382	0.0617	N	0.25380	0.74	0.80722	D	1	B;B	0.24317	0.026;0.101	B;B	0.28916	0.025;0.096	T	0.06445	-1.0826	10	0.87932	D	0	.	19.5577	0.95358	0.0:0.0:1.0:0.0	.	48;48	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	L	48	ENSP00000355082:S48L;ENSP00000390688:S48L	ENSP00000355082:S48L	S	-	2	0	PCDH18	138672550	1.000000	0.71417	0.963000	0.40424	0.978000	0.69477	4.581000	0.60949	2.618000	0.88619	0.561000	0.74099	TCA	PCDH18	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000189184		0.413	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1		0	52	0	G	NM_019035		138453100	-1			no_errors	ENST00000344876	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.933	A	A	138453100	G	A	138453100	3	1	178	1	0	0	0	0	1	0	0	0	11552	1294	45	3	3280	3	PCDH18	4	138453100	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	28785168	138453100	52701176	59	44262											
CCRN4L	25819	genome.wustl.edu	37	chr4	139966564	139966564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaccttccttcaattatcCttcagaccacctgtctctag	8	15	4	14	0	3	1	2	0	1	1	6	1	5	1	5	0	1	1	5	0	4	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:139966564C>A	ENST00000280614.2	+	3	1425	c.1232C>A	c.(1231-1233)cCt>cAt	p.P411H	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	411					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					TTCAATTATCCTTCAGACCAC	0.398																																					Ovarian(144;566 1842 19130 21379 22209)												0													87	85	86					4																	139966564		2203	4300	6503	SO:0001583	missense	0			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"CCR4-like (carbon catabolite repression 4, S.cerevisiae)"			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.1232C>A	4.37:g.139966564C>A	ENSP00000280614:p.Pro411His		D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.P411H	ENST00000280614.2	37	c.1232	CCDS3743.1	4	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992254	0.74703	.	.	ENSG00000151014	ENST00000280614	T	0.33216	1.42	5.39	5.39	0.77823	Endonuclease/exonuclease/phosphatase (2);	0.053260	0.85682	D	0.000000	T	0.67021	0.2849	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75499	-0.3296	9	.	.	.	-14.6687	19.1467	0.93472	0.0:1.0:0.0:0.0	.	411	Q9UK39	NOCT_HUMAN	H	411	ENSP00000280614:P411H	.	P	+	2	0	CCRN4L	140186014	1.000000	0.71417	0.986000	0.45419	0.634000	0.38068	7.749000	0.85096	2.540000	0.85666	0.585000	0.79938	CCT	CCRN4L	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000151014		0.398	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRN4L	HGNC	protein_coding	OTTHUMT00000257231.3	-	0	93	0	C	NM_012118		139966564	1	tier1	-	no_errors	ENST00000280614	ensembl	human	known	74_37	missense	9.09	49	5	SNP	1.000	A	A	139966564	C	A	139966564	3	1	178	1	0	0	0	0	1	0	0	0	2958	681	24	3	1242	3	CCRN4L	4	139966564	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	1513464	139966564	51187712	60	44263											
ACCN5	51802	genome.wustl.edu	37	chr4	156760008	156760008	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtacttttgtaggtcacaTtctatcccatatccttaaaa	13	15	4	9	0	2	0	1	0	1	0	4	0	4	0	2	1	1	2	2	1	7	8			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:156760008T>A	ENST00000537611.2	-	7	1069	c.1023A>T	c.(1021-1023)gaA>gaT	p.E341D		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	341					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										GTAGGTCACATTCTATCCCAT	0.284																																																	0													66	67	67					4																	156760008		2202	4295	6497	SO:0001583	missense	0			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1023A>T	4.37:g.156760008T>A	ENSP00000442477:p.Glu341Asp			Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.E341D	ENST00000537611.2	37	c.1023	CCDS3793.1	4	.	.	.	.	.	.	.	.	.	.	T	10.27	1.304978	0.23736	.	.	ENSG00000256394	ENST00000537611	T	0.63417	-0.04	3.81	0.451	0.16629	.	0.000000	0.64402	D	0.000013	T	0.62392	0.2424	M	0.81802	2.56	0.31534	N	0.660832	P	0.42248	0.774	B	0.44044	0.439	T	0.64232	-0.6456	10	0.35671	T	0.21	-22.9503	8.5	0.33152	0.0:0.3848:0.0:0.6152	.	341	Q9NY37	ACCN5_HUMAN	D	341	ENSP00000442477:E341D	ENSP00000264432:E341D	E	-	3	2	ACCN5	156979458	0.998000	0.40836	0.988000	0.46212	0.030000	0.12068	0.201000	0.17276	-0.061000	0.13110	0.377000	0.23210	GAA	ASIC5	-	pfam_Na+channel_ASC	ENSG00000256394		0.284	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC5	HGNC	protein_coding	OTTHUMT00000366464.1	-	0	73	0	T			156760008	-1	tier1	-	no_errors	ENST00000537611	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.999	A	A	156760008	T	A	156760008	3	1	178	1	0	0	0	0	1	0	0	0	132	1490	52	5	510	5	ACCN5	4	156760008	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	16793444	156760008	34394268	61	44264											
GLRA3	8001	genome.wustl.edu	37	chr4	175565062	175565062	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtatcaatcttcttggcccGgtcgataaagaccttcctca	9	12	8	12	2	4	1	2	0	2	1	6	2	5	1	3	3	0	1	3	3	4	5	rs369207686		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr4:175565062G>T	ENST00000274093.3	-	10	1772	c.1270C>A	c.(1270-1272)Cgg>Agg	p.R424R	GLRA3_ENST00000340217.5_Silent_p.R409R	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	424					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.R424G(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTCTTGGCCCGGTCGATAAAG	0.428																																																	1	Substitution - Missense(1)	lung(1)											152	133	140					4																	175565062		2203	4300	6503	SO:0001819	synonymous_variant	0			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1270C>A	4.37:g.175565062G>T			D3DP44|O75816|Q5D0E3	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.R424	ENST00000274093.3	37	c.1270	CCDS3822.1	4																																																																																			GLRA3	-	superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000145451		0.428	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1		0	54	0	G			175565062	-1			no_errors	ENST00000274093	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.980	T	T	175565062	G	T	175565062	2	4	178	1	0	0	0	0	0	0	0	1	6482	1115	39	2		2	GLRA3	4	175565062	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	18805054	175565062	15589214	62	44265											
ADCY2	108	genome.wustl.edu	37	chr5	7817053	7817053	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagggaagctggatgcCatcaacaagcactccttcaa	12	8	10	11	0	2	0	2	0	0	0	3	2	3	2	2	3	4	3	2	3	5	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:7817053C>T	ENST00000338316.4	+	23	3047	c.2958C>T	c.(2956-2958)gcC>gcT	p.A986A	ADCY2_ENST00000537121.1_Silent_p.A806A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	986					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						AGCTGGATGCCATCAACAAGC	0.498											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													211	161	178					5																	7817053		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2958C>T	5.37:g.7817053C>T		644	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A986	ENST00000338316.4	37	c.2958	CCDS3872.2	5																																																																																			ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000078295		0.498	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	-	0	102	0	C	NM_020546		7817053	1	tier1	-	no_errors	ENST00000338316	ensembl	human	known	74_37	silent	6.76	138	10	SNP	1.000	T	T	7817053	C	T	7817053	2	4	178	1	0	0	0	0	0	0	0	1	294	581	21	3		3	ADCY2	5	7817053	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09		7817053	173098207	63	44266											
PDE8B	8622	genome.wustl.edu	37	chr5	76704799	76704799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagagttctagagattttaCggaccacagaactgtactcc	13	10	8	10	1	1	3	0	0	1	3	2	5	2	4	2	1	3	2	2	1	4	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:76704799C>T	ENST00000264917.5	+	14	1492	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	PDE8B_ENST00000505283.1_5'Flank|PDE8B_ENST00000342343.4_Missense_Mutation_p.R463W|PDE8B_ENST00000346042.3_Missense_Mutation_p.R386W|PDE8B_ENST00000333194.4_Intron|PDE8B_ENST00000340978.3_Missense_Mutation_p.R436W	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	483					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)	AGAGATTTTACGGACCACAGA	0.463																																																	0													109	103	105					5																	76704799		2203	4300	6503	SO:0001583	missense	0			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.1447C>T	5.37:g.76704799C>T	ENSP00000264917:p.Arg483Trp		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.R483W	ENST00000264917.5	37	c.1447	CCDS4037.1	5	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637182	0.67130	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343	T;T;T;T	0.71698	-0.46;-0.59;-0.46;-0.46	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	M	0.77313	2.365	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;0.998	D	0.85208	0.1019	10	0.87932	D	0	.	12.622	0.56607	0.1657:0.8343:0.0:0.0	.	386;436;463;483	O95263-2;O95263-6;O95263-4;O95263	.;.;.;PDE8B_HUMAN	W	436;386;483;463	ENSP00000345446:R436W;ENSP00000330428:R386W;ENSP00000264917:R483W;ENSP00000345646:R463W	ENSP00000264917:R483W	R	+	1	2	PDE8B	76740555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.350000	0.44063	2.200000	0.70718	0.561000	0.74099	CGG	PDE8B	-	NULL	ENSG00000113231		0.463	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3	-	0	98	0	C	NM_003719		76704799	1	tier1	-	no_errors	ENST00000264917	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	T	T	76704799	C	T	76704799	3	4	178	1	0	0	0	0	1	0	0	0	11693	527	19	1	1501	1	PDE8B	5	76704799	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	68887746	76704799	104210461	64	44267											
FEM1C	56929	genome.wustl.edu	37	chr5	114879143	114879143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaatttggtgagaagccgGagtttgccatcccgagctgc	10	9	12	10	2	0	1	0	1	0	1	1	4	1	2	3	2	5	2	3	2	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:114879143G>A	ENST00000274457.3	-	2	609	c.48C>T	c.(46-48)ctC>ctT	p.L16L		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	16					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)		TGAGAAGCCGGAGTTTGCCAT	0.468																																																	0													53	59	57					5																	114879143		2202	4300	6502	SO:0001819	synonymous_variant	0				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.48C>T	5.37:g.114879143G>A			B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L16	ENST00000274457.3	37	c.48	CCDS4118.1	5																																																																																			FEM1C	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145780		0.468	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1C	HGNC	protein_coding	OTTHUMT00000250857.3		0	54	0	G	NM_020177		114879143	-1			no_errors	ENST00000274457	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	A	A	114879143	G	A	114879143	2	1	178	1	0	0	0	0	0	0	0	1	5833	1161	41	3		3	FEM1C	5	114879143	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	38174344	114879143	66036117	65	44268											
FBN2	2201	genome.wustl.edu	37	chr5	127728955	127728955	+	Silent	SNP	G	G	T	0	0	1	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	gggccatagccattgccattGccacttggggcaaagccatt	9	9	11	12	0	0	0	0	0	0	0	0	0	0	0	5	3	4	1	5	3	2	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:127728955G>T	ENST00000508053.1	-	16	2312	c.1338C>A	c.(1336-1338)ggC>ggA	p.G446G	FBN2_ENST00000508989.1_Silent_p.G413G|FBN2_ENST00000262464.4_Silent_p.G446G			P35556	FBN2_HUMAN	fibrillin 2	446					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATTGCCATTGCCACTTGGGG	0.607																																																	0													86	77	80					5																	127728955		2203	4300	6503	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1338C>A	5.37:g.127728955G>T			B4DU01|Q59ES6	Silent	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G446	ENST00000508053.1	37	c.1338	CCDS34222.1	5																																																																																			FBN2	-	pirsf_FBN	ENSG00000138829		0.607	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	54	0	G	NM_001999		127728955	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	28.89	32	13	SNP	0.997	T	T	127728955	G	T	127728955	2	4	178	1	0	0	0	0	0	0	0	1	5725	1306	46	3		3	FBN2	5	127728955	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	12849812	127728955	53186305	66	44269											
CATSPER3	347732	genome.wustl.edu	37	chr5	134303709	134303709	+	Missense_Mutation	SNP	T	T	C	0	1	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	aacaccgtcaccagcgccacTcgagagtcatttctagttca	11	9	7	14	3	4	1	3	0	1	1	5	2	4	1	3	0	2	1	3	0	2	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:134303709T>C	ENST00000282611.6	+	1	114	c.28T>C	c.(28-30)Tcg>Ccg	p.S10P	CATSPER3_ENST00000511235.1_3'UTR|PCBD2_ENST00000512783.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	10					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)			CCAGCGCCACTCGAGAGTCAT	0.383																																																	0													113	111	112					5																	134303709		2203	4300	6503	SO:0001583	missense	0			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.28T>C	5.37:g.134303709T>C	ENSP00000282611:p.Ser10Pro		Q86XS6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.S10P	ENST00000282611.6	37	c.28	CCDS4181.1	5	.	.	.	.	.	.	.	.	.	.	T	7.065	0.567198	0.13560	.	.	ENSG00000152705	ENST00000282611	D	0.97089	-4.24	3.94	-7.88	0.01178	.	3.335980	0.00875	N	0.002079	D	0.89983	0.6873	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.23018	0.043	D	0.86178	0.1604	10	0.39692	T	0.17	6.7344	4.495	0.11833	0.1422:0.1927:0.514:0.1511	.	10	Q86XQ3	CTSR3_HUMAN	P	10	ENSP00000282611:S10P	ENSP00000282611:S10P	S	+	1	0	CATSPER3	134331608	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.170000	0.00573	-2.029000	0.00930	-0.320000	0.08662	TCG	CATSPER3	-	NULL	ENSG00000152705		0.383	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER3	HGNC	protein_coding	OTTHUMT00000251191.2	-	0	49	0	T	NM_178019		134303709	1	tier1	-	no_errors	ENST00000282611	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	C	C	134303709	T	C	134303709	3	2	178	1	0	0	0	0	1	0	0	0	2696	1551	54	4	30	4	CATSPER3	5	134303709	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	6574754	134303709	46611551	67	44270											
FAM53C	51307	genome.wustl.edu	37	chr5	137680997	137680997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agattcctctcgaccctgcgCcgcctcccctcaaagtggct	6	9	8	18	3	2	1	1	0	1	1	5	2	4	1	6	1	1	1	6	1	1	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:137680997C>T	ENST00000239906.5	+	4	1048	c.620C>T	c.(619-621)gCc>gTc	p.A207V	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.A207V|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	207										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGACCCTGCGCCGCCTCCCCT	0.632																																																	0													148	166	160					5																	137680997		2203	4300	6503	SO:0001583	missense	0			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.620C>T	5.37:g.137680997C>T	ENSP00000239906:p.Ala207Val		B2RDJ5|D3DQB9	Missense_Mutation	SNP	NULL	p.A207V	ENST00000239906.5	37	c.620	CCDS4204.1	5	.	.	.	.	.	.	.	.	.	.	C	12.71	2.021020	0.35606	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.44482	0.92;0.92	5.55	4.68	0.58851	.	0.301114	0.34603	N	0.003840	T	0.36468	0.0968	L	0.36672	1.1	0.80722	D	1	P	0.50819	0.939	P	0.45406	0.479	T	0.09292	-1.0681	9	.	.	.	-1.7497	11.9455	0.52926	0.0:0.9171:0.0:0.0829	.	207	Q9NYF3	FA53C_HUMAN	V	207	ENSP00000403705:A207V;ENSP00000239906:A207V	.	A	+	2	0	FAM53C	137708896	0.941000	0.31946	0.798000	0.32154	0.966000	0.64601	2.003000	0.40844	1.579000	0.49836	0.655000	0.94253	GCC	FAM53C	-	NULL	ENSG00000120709		0.632	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	HGNC	protein_coding	OTTHUMT00000251278.2	-	0	64	0	C	NM_016605		137680997	1	tier1	-	no_errors	ENST00000239906	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.962	T	T	137680997	C	T	137680997	3	4	178	1	0	0	0	0	1	0	0	0	5603	739	26	3	630	3	FAM53C	5	137680997	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	3377288	137680997	43234263	68	44271											
PCDHB13	56123	genome.wustl.edu	37	chr5	140595492	140595492	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacggcgactcgggccagaaCgcctggctgtcgtaccagct	7	6	14	14	5	0	1	0	0	0	1	2	3	0	1	3	3	3	3	3	3	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:140595492C>T	ENST00000341948.4	+	1	1984	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCCAGAACGCCTGGCTGT	0.716																																																	0													6	8	7					5																	140595492		1732	3464	5196	SO:0001819	synonymous_variant	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1797C>T	5.37:g.140595492C>T			A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N599	ENST00000341948.4	37	c.1797	CCDS4255.1	5																																																																																			PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000187372		0.716	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	-	0	40	0	C	NM_018933		140595492	1	tier1	-	no_errors	ENST00000341948	ensembl	human	known	74_37	silent	29.73	26	11	SNP	1.000	T	T	140595492	C	T	140595492	2	4	178	1	0	0	0	0	0	0	0	1	11577	535	19	1		1	PCDHB13	5	140595492	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	2914495	140595492	40319768	69	44272											
PCDHB14	56122	genome.wustl.edu	37	chr5	140603871	140603871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctggattgccaccatctCagctaaggatctggatgcag	9	10	10	12	0	2	0	1	0	2	0	4	3	3	3	3	3	3	2	3	3	1	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:140603871C>T	ENST00000239449.4	+	1	794	c.794C>T	c.(793-795)tCa>tTa	p.S265L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S112L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	265	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCATCTCAGCTAAGGAT	0.423																																					Ovarian(141;50 1831 27899 33809 37648)												0													53	57	55					5																	140603871		2203	4300	6503	SO:0001583	missense	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.794C>T	5.37:g.140603871C>T	ENSP00000239449:p.Ser265Leu		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S265L	ENST00000239449.4	37	c.794	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	7.877	0.729313	0.15507	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.52754	0.65;0.65	4.75	2.93	0.34026	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.43986	0.1272	M	0.73372	2.23	0.26947	N	0.966122	B	0.22851	0.076	B	0.26310	0.068	T	0.45366	-0.9266	9	0.48119	T	0.1	.	3.7693	0.08635	0.2835:0.5075:0.1238:0.0851	.	265	Q9Y5E9	PCDBE_HUMAN	L	112;265	ENSP00000444518:S112L;ENSP00000239449:S265L	ENSP00000239449:S265L	S	+	2	0	PCDHB14	140584055	0.000000	0.05858	0.968000	0.41197	0.331000	0.28603	-1.568000	0.02144	0.523000	0.28482	0.655000	0.94253	TCA	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120327		0.423	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0	79	0	C	NM_018934		140603871	1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	missense	25.00	51	17	SNP	0.939	T	T	140603871	C	T	140603871	3	4	178	1	0	0	0	0	1	0	0	0	11578	838	29	3	796	3	PCDHB14	5	140603871	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	8379	140603871	40311389	70	44273											
LSM11	134353	genome.wustl.edu	37	chr5	157181018	157181018	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgttcctctaggcacttActgatgtggatgagacctac	8	12	11	10	0	1	2	0	2	1	1	2	4	2	3	2	3	2	3	2	3	3	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr5:157181018A>T	ENST00000286307.5	+	3	651	c.595A>T	c.(595-597)Act>Tct	p.T199S		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	199	SM 1.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)	p.T199A(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTAGGCACTTACTGATGTGGA	0.403																																																	1	Substitution - Missense(1)	lung(1)											128	112	117					5																	157181018		2203	4300	6503	SO:0001583	missense	0			AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.595A>T	5.37:g.157181018A>T	ENSP00000286307:p.Thr199Ser		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.T199S	ENST00000286307.5	37	c.595	CCDS4342.1	5	.	.	.	.	.	.	.	.	.	.	.	19.03	3.747969	0.69533	.	.	ENSG00000155858	ENST00000286307	T	0.39406	1.08	6.17	6.17	0.99709	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.119448	0.64402	D	0.000009	T	0.44180	0.1281	N	0.20986	0.625	0.37189	D	0.90385	D	0.61697	0.99	P	0.59487	0.858	T	0.49597	-0.8923	10	0.36615	T	0.2	-9.4563	11.0511	0.47889	0.9315:0.0:0.0685:0.0	.	199	P83369	LSM11_HUMAN	S	199	ENSP00000286307:T199S	ENSP00000286307:T199S	T	+	1	0	LSM11	157113596	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.979000	0.76154	2.371000	0.80710	0.533000	0.62120	ACT	LSM11	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000155858		0.403	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM11	HGNC	protein_coding	OTTHUMT00000252580.2		0	91	0	A	NM_173491		157181018	1			no_errors	ENST00000286307	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	157181018	A	T	157181018	3	4	178	1	0	0	0	0	1	0	0	0	9087	391	14	5	605	5	LSM11	5	157181018	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	16577147	157181018	23734242	71	44274											
NEDD9	4739	genome.wustl.edu	37	chr6	11190694	11190694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcaggcagcatttgcaaCagctcccttgacaaagtgga	12	7	12	10	0	0	1	0	1	0	0	1	3	1	2	1	3	4	5	1	3	2	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:11190694C>T	ENST00000379446.5	-	5	1574	c.1408G>A	c.(1408-1410)Gtt>Att	p.V470I	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.V470I	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	470					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)			GCATTTGCAACAGCTCCCTTG	0.507																																																	0													77	75	75					6																	11190694		2203	4300	6503	SO:0001583	missense	0			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.1408G>A	6.37:g.11190694C>T	ENSP00000368759:p.Val470Ile		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.V470I	ENST00000379446.5	37	c.1408	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207800	0.06180	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.23950	1.88;1.88	5.58	1.64	0.23874	Serine rich protein interaction (1);	0.907430	0.09622	N	0.777442	T	0.06781	0.0173	L	0.50333	1.59	0.09310	N	0.999999	B;B;B	0.16802	0.007;0.019;0.004	B;B;B	0.20577	0.006;0.03;0.005	T	0.41734	-0.9492	10	0.25106	T	0.35	-0.1579	1.6583	0.02786	0.1293:0.4453:0.1407:0.2847	.	470;470;470	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	I	470	ENSP00000368759:V470I;ENSP00000422871:V470I	ENSP00000368759:V470I	V	-	1	0	NEDD9	11298680	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.396000	0.20867	0.002000	0.14630	0.655000	0.94253	GTT	NEDD9	-	pfam_Serine_rich	ENSG00000111859		0.507	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	-	0	71	0	C	NM_006403		11190694	-1	tier1	-	no_errors	ENST00000379446	ensembl	human	known	74_37	missense	34.04	31	16	SNP	0.000	T	T	11190694	C	T	11190694	3	4	178	1	0	0	0	0	1	0	0	0	10352	478	17	3	1108	3	NEDD9	6	11190694	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09		11190694	159924373	72	44275											
KIF13A	63971	genome.wustl.edu	37	chr6	17837812	17837812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaccccaaggttgtaagcGatctgtcaagaaaaaatgaa	17	7	8	9	1	2	2	1	1	1	1	2	3	2	2	3	1	2	2	3	1	8	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:17837812G>A	ENST00000259711.6	-	10	938	c.833C>T	c.(832-834)tCg>tTg	p.S278L	KIF13A_ENST00000378843.2_Missense_Mutation_p.S278L|KIF13A_ENST00000378826.2_Missense_Mutation_p.S278L|KIF13A_ENST00000378816.5_Missense_Mutation_p.S278L|KIF13A_ENST00000378814.5_Missense_Mutation_p.S278L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	278	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S278L(1)		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)			GGTTGTAAGCGATCTGTCAAG	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											53	45	48					6																	17837812		1841	4080	5921	SO:0001583	missense	0			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.833C>T	6.37:g.17837812G>A	ENSP00000259711:p.Ser278Leu		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S278L	ENST00000259711.6	37	c.833	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.863574	0.97043	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.64	5.64	0.86602	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	H	0.98559	4.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.97551	1.0092	10	0.87932	D	0	.	20.0585	0.97663	0.0:0.0:1.0:0.0	.	278;278;278;278	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	L	278	ENSP00000368091:S278L;ENSP00000259711:S278L;ENSP00000368103:S278L;ENSP00000368120:S278L;ENSP00000368093:S278L	ENSP00000259711:S278L	S	-	2	0	KIF13A	17945791	1.000000	0.71417	0.862000	0.33874	0.499000	0.33736	9.813000	0.99286	2.812000	0.96745	0.557000	0.71058	TCG	KIF13A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000137177		0.378	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4		0	76	0	G			17837812	-1			no_errors	ENST00000259711	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	A	A	17837812	G	A	17837812	3	1	178	1	0	0	0	0	1	0	0	0	8301	1059	37	1	4729	1	KIF13A	6	17837812	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	6647118	17837812	153277255	73	44276											
OR2J3	442186	genome.wustl.edu	37	chr6	29080478	29080478	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccaccatcaggaaattctCaagatcaaggcaagttcatt	15	9	7	10	0	4	1	4	0	1	1	5	2	4	2	2	2	1	2	2	2	4	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:29080478C>G	ENST00000377169.1	+	1	811	c.811C>G	c.(811-813)Caa>Gaa	p.Q271E		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	271						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						AGGAAATTCTCAAGATCAAGG	0.433																																																	0													108	108	108					6																	29080478		1238	2545	3783	SO:0001583	missense	0				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.811C>G	6.37:g.29080478C>G	ENSP00000366374:p.Gln271Glu		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q271E	ENST00000377169.1	37	c.811	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	C	9.864	1.197209	0.22037	.	.	ENSG00000204701	ENST00000377169	T	0.00069	8.77	3.02	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.26130	0.795	0.09310	N	1	B	0.34147	0.438	P	0.46685	0.524	T	0.02238	-1.1190	9	0.39692	T	0.17	.	4.4456	0.11595	0.0:0.6639:0.0:0.3361	.	271	O76001	OR2J3_HUMAN	E	271	ENSP00000366374:Q271E	ENSP00000366374:Q271E	Q	+	1	0	OR2J3	29188457	0.000000	0.05858	0.485000	0.27403	0.764000	0.43329	-1.556000	0.02168	1.679000	0.50963	0.436000	0.28706	CAA	OR2J3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204701		0.433	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	HGNC	protein_coding	OTTHUMT00000076132.2	-	0	33	0	C			29080478	1	tier1	-	no_errors	ENST00000377169	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.001	G	G	29080478	C	G	29080478	3	3	178	1	0	0	0	0	1	0	0	0	11043	827	29	5	813	5	OR2J3	6	29080478	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	11242666	29080478	142034589	74	44277											
TRIM15	89870	genome.wustl.edu	37	chr6	30136085	30136085	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcccttgaagactcagatCgaaagcaagaagcatcaggt	15	8	9	9	1	2	4	2	1	0	3	4	5	3	4	1	1	2	2	1	1	5	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:30136085C>A	ENST00000376694.4	+	3	955	c.486C>A	c.(484-486)atC>atA	p.I162I	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	162					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						AGACTCAGATCGAAAGCAAGA	0.498																																																	0													47	46	46					6																	30136085		1510	2709	4219	SO:0001819	synonymous_variant	0			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.486C>A	6.37:g.30136085C>A			A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I162	ENST00000376694.4	37	c.486	CCDS4677.1	6																																																																																			TRIM15	-	NULL	ENSG00000204610		0.498	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM15	HGNC	protein_coding	OTTHUMT00000076026.2	-	0	35	0	C	NM_033229		30136085	1	tier1	-	no_errors	ENST00000376694	ensembl	human	known	74_37	silent	13.95	37	6	SNP	0.000	A	A	30136085	C	A	30136085	2	1	178	1	0	0	0	0	0	0	0	1	16538	874	31	2		2	TRIM15	6	30136085	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	1055607	30136085	140978982	75	44278											
KCNK5	8645	genome.wustl.edu	37	chr6	39159198	39159198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggccccagccctgggcccGggcccgtctccccacccccg	3	3	12	23	3	1	0	0	0	1	0	2	1	1	0	9	3	1	0	9	3	0	0	rs200814070		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:39159198G>A	ENST00000359534.3	-	5	1306	c.968C>T	c.(967-969)cCg>cTg	p.P323L		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	323					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						CCCTGGGCCCGGGCCCGTCTC	0.617													G|||	1	0.000199681	0	0.0014	5008	,	,		15292	0		0	False		,,,				2504	0																0													62	67	66					6																	39159198		2203	4299	6502	SO:0001583	missense	0			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.968C>T	6.37:g.39159198G>A	ENSP00000352527:p.Pro323Leu		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.P323L	ENST00000359534.3	37	c.968	CCDS4841.1	6	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	1.121	-0.655286	0.03480	.	.	ENSG00000164626	ENST00000359534	T	0.19250	2.16	4.59	4.59	0.56863	.	2.173290	0.01316	N	0.010794	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B	0.28605	0.217	B	0.17098	0.017	T	0.12372	-1.0550	10	0.25751	T	0.34	.	10.4126	0.44303	0.0:0.0:0.8055:0.1945	.	323	O95279	KCNK5_HUMAN	L	323	ENSP00000352527:P323L	ENSP00000352527:P323L	P	-	2	0	KCNK5	39267176	0.065000	0.20965	0.038000	0.18304	0.346000	0.29079	1.676000	0.37565	2.837000	0.97791	0.655000	0.94253	CCG	KCNK5	-	NULL	ENSG00000164626		0.617	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1		0	22	0	G	NM_003740		39159198	-1			no_errors	ENST00000359534	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.009	A	A	39159198	G	A	39159198	3	1	178	1	0	0	0	0	1	0	0	0	8096	1116	39	1	535	1	KCNK5	6	39159198	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	9023113	39159198	131955869	76	44279											
OPN5	221391	genome.wustl.edu	37	chr6	47779443	47779443	+	Silent	SNP	T	T	C	0	1	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	accacagtcaggaagtcttcTgctgtgctggaaattcatga	11	11	10	9	0	4	1	2	1	2	0	4	3	4	3	1	2	2	2	1	2	2	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:47779443T>C	ENST00000371211.2	+	6	1060	c.1032T>C	c.(1030-1032)tcT>tcC	p.S344S	OPN5_ENST00000489301.2_Silent_p.S344S|OPN5_ENST00000393699.2_Silent_p.S344S|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	344					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GGAAGTCTTCTGCTGTGCTGG	0.373																																					Melanoma(28;740 973 10870 42660 45347)												0													135	119	124					6																	47779443		2203	4300	6503	SO:0001819	synonymous_variant	0			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.1032T>C	6.37:g.47779443T>C			A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin	p.S344	ENST00000371211.2	37	c.1032	CCDS4923.1	6																																																																																			OPN5	-	NULL	ENSG00000124818		0.373	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	HGNC	protein_coding	OTTHUMT00000359451.1	-	0	31	0	T	NM_181744		47779443	1	tier1	-	no_errors	ENST00000371211	ensembl	human	known	74_37	silent	12.12	29	4	SNP	1.000	C	C	47779443	T	C	47779443	2	2	178	1	0	0	0	0	0	0	0	1	10922	1567	55	4		4	OPN5	6	47779443	Silent	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	8620245	47779443	123335624	77	44280											
DST	667	genome.wustl.edu	37	chr6	56342211	56342211	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggagtcggggtggcagaTagccaaaacggtgtcgccca	10	6	16	9	3	0	1	0	0	0	1	2	3	0	2	2	5	2	1	2	5	3	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:56342211T>C	ENST00000361203.3	-	86	20654	c.20647A>G	c.(20647-20649)Atc>Gtc	p.I6883V	DST_ENST00000370769.4_Missense_Mutation_p.I6994V|DST_ENST00000370754.5_Missense_Mutation_p.I7172V|DST_ENST00000446842.2_Missense_Mutation_p.I6668V|DST_ENST00000421834.2_Missense_Mutation_p.I4906V|DST_ENST00000244364.6_Missense_Mutation_p.I4580V|DST_ENST00000370788.2_Missense_Mutation_p.I4797V|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6884					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)			GGGTGGCAGATAGCCAAAACG	0.453																																																	0													190	199	196					6																	56342211		1948	4157	6105	SO:0001583	missense	0			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.20647A>G	6.37:g.56342211T>C	ENSP00000354508:p.Ile6883Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.I7172V	ENST00000361203.3	37	c.21514		6	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921875	0.33908	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.58	-1.57	0.08506	.	0.256160	0.27139	N	0.020746	T	0.14743	0.0356	N	0.08118	0	0.24783	N	0.992805	P;B;B;B;B	0.46277	0.875;0.035;0.017;0.001;0.0	P;B;B;B;B	0.48815	0.591;0.074;0.02;0.004;0.006	T	0.16041	-1.0416	9	0.28530	T	0.3	.	9.8118	0.40828	0.0:0.0642:0.4794:0.4564	.	4906;6994;7172;6992;4580	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	4580;7172;6994;4906;6668;4797;6883	ENSP00000244364:I4580V;ENSP00000359790:I7172V;ENSP00000359805:I6994V;ENSP00000400883:I4906V;ENSP00000393645:I6668V;ENSP00000359824:I4797V;ENSP00000354508:I6883V	ENSP00000244364:I4580V	I	-	1	0	DST	56450170	1.000000	0.71417	0.985000	0.45067	0.959000	0.62525	2.825000	0.48096	-0.387000	0.07809	-0.438000	0.05819	ATC	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	85	0	T	NM_001723		56342211	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	12.90	81	12	SNP	0.997	C	C	56342211	T	C	56342211	3	2	178	1	0	0	0	0	1	0	0	0	4797	1406	49	4	1829	4	DST	6	56342211	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	8562768	56342211	114772856	78	44281											
KCNQ5	56479	genome.wustl.edu	37	chr6	73751728	73751728	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctgcgggttgctgttgtCgatatagaggatggcaagga	8	11	17	5	2	1	1	0	0	1	1	2	4	1	3	0	5	2	4	0	5	3	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:73751728C>T	ENST00000370398.1	+	3	668	c.559C>T	c.(559-561)Cga>Tga	p.R187*	KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000370392.1_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000414165.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000342056.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.R187*	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	187					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)	p.R187*(1)		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)	TTGCTGTTGTCGATATAGAGG	0.428																																					GBM(142;1375 1859 14391 23261 44706)												1	Substitution - Nonsense(1)	large_intestine(1)											352	319	330					6																	73751728		2203	4300	6503	SO:0001587	stop_gained	0			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.559C>T	6.37:g.73751728C>T	ENSP00000359425:p.Arg187*		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Nonsense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R187*	ENST00000370398.1	37	c.559	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.547912	0.98352	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165;ENST00000443915;ENST00000441538	.	.	.	6.17	6.17	0.99709	.	0.064316	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	187;187;187;187;187;187;187;187;187;25;24	.	ENSP00000345055:R187X	R	+	1	2	KCNQ5	73808449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.762000	0.68809	2.941000	0.99782	0.655000	0.94253	CGA	KCNQ5	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ	ENSG00000185760		0.428	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3		0	66	0	C	NM_019842		73751728	1			no_errors	ENST00000402622	ensembl	human	known	74_37	nonsense	6.00	47	3	SNP	1.000	T	T	73751728	C	T	73751728	4	4	178	1	0	0	0	0	0	1	0	0	8113	876	31	1	569	1	KCNQ5	6	73751728	Nonsense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	17409517	73751728	97363339	79	44282											
KIAA0776	23376	genome.wustl.edu	37	chr6	96986512	96986512	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgtaattctagcctctGctacccacttctttatcagt	7	18	5	11	0	4	0	1	0	3	0	4	0	4	0	2	0	3	3	2	0	4	8			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:96986512G>A	ENST00000369278.4	+	10	1050	c.984G>A	c.(982-984)ctG>ctA	p.L328L		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	328					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										TCTAGCCTCTGCTACCCACTT	0.373																																																	0													60	58	59					6																	96986512		2202	4299	6501	SO:0001819	synonymous_variant	0			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.984G>A	6.37:g.96986512G>A			A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	pfam_E3_UFM1_ligase_1	p.L328	ENST00000369278.4	37	c.984	CCDS5034.1	6																																																																																			UFL1	-	NULL	ENSG00000014123		0.373	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	-	0	40	0	G	NM_015323		96986512	1	tier1	-	no_errors	ENST00000369278	ensembl	human	known	74_37	silent	50.00	7	7	SNP	0.997	A	A	96986512	G	A	96986512	2	1	178	1	0	0	0	0	0	0	0	1	8220	1306	46	3		3	KIAA0776	6	96986512	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	23234784	96986512	74128555	80	44283											
RSPH4A	345895	genome.wustl.edu	37	chr6	116948791	116948791	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcatttgtttccccaGgcagaaaacgctcttccaaa	12	9	6	14	1	1	1	0	0	1	1	3	1	3	1	4	1	2	4	4	1	3	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:116948791G>T	ENST00000229554.5	+	3	1058		c.e3-1		RSPH4A_ENST00000368581.4_Splice_Site|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)						axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGTTTCCCCAGGCAGAAAACG	0.398									Kartagener syndrome																																								1	Unknown(1)	kidney(1)											70	75	74					6																	116948791		2199	4297	6496	SO:0001630	splice_region_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.922-1G>T	6.37:g.116948791G>T			B4DSI1|Q3KP24|Q5TD95	Splice_Site	SNP	-	e3-1	ENST00000229554.5	37	c.922-1	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817779	0.32145	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8276	0.85935	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RSPH4A	117055484	1.000000	0.71417	0.983000	0.44433	0.156000	0.22039	9.348000	0.97062	2.542000	0.85734	0.591000	0.81541	.	RSPH4A	-	-	ENSG00000111834		0.398	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	-	0	55	0	G	NM_001010892	Intron	116948791	1	tier1	-	no_errors	ENST00000229554	ensembl	human	known	74_37	splice_site	6.45	58	4	SNP	1.000	T	T	116948791	G	T	116948791	5	4	178	1	0	0	0	0	0	0	1	0	13751	1014	35	3	931	3	RSPH4A	6	116948791	Splice_Site	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	19962279	116948791	54166276	81	44284											
BCLAF1	9774	genome.wustl.edu	37	chr6	136596728	136596728	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgactctgaagtgcttttGctggcctgtggcaacttaat	9	14	10	8	0	1	2	0	2	1	0	1	2	1	2	1	2	3	3	1	2	4	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:136596728G>A	ENST00000531224.1	-	6	2046	c.1794C>T	c.(1792-1794)agC>agT	p.S598S	BCLAF1_ENST00000527759.1_Silent_p.S596S|BCLAF1_ENST00000392348.2_Silent_p.S596S|BCLAF1_ENST00000353331.4_Silent_p.S596S|BCLAF1_ENST00000530767.1_Silent_p.S425S|BCLAF1_ENST00000527536.1_Silent_p.S598S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	598					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)		AAGTGCTTTTGCTGGCCTGTG	0.393																																					Colon(142;1534 1789 5427 7063 28491)												0													207	188	194					6																	136596728		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1794C>T	6.37:g.136596728G>A			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.S598	ENST00000531224.1	37	c.1794	CCDS5177.1	6																																																																																			BCLAF1	-	NULL	ENSG00000029363		0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	-	0	86	0	G	NM_014739		136596728	-1	tier1	-	no_errors	ENST00000531224	ensembl	human	known	74_37	silent	15.09	44	8	SNP	1.000	A	A	136596728	G	A	136596728	2	1	178	1	0	0	0	0	0	0	0	1	1384	1310	46	3		3	BCLAF1	6	136596728	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	19647937	136596728	34518339	82	44285											
SHPRH	257218	genome.wustl.edu	37	chr6	146275889	146275889	+	Frame_Shift_Del	DEL	C	C	-																															cttctcttcttttgtagccaCcccaaatcttctaacatttc																								rs201269436	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:146275889delC	ENST00000367505.2	-	2	834	c.570delG	c.(568-570)gggfs	p.G190fs	SHPRH_ENST00000438092.2_Frame_Shift_Del_p.G190fs|SHPRH_ENST00000367503.3_Frame_Shift_Del_p.G190fs|SHPRH_ENST00000275233.7_Frame_Shift_Del_p.G190fs			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	190					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTTGTAGCCACCCCAAATCTT	0.373																																																	0													117	112	113					6																	146275889		1844	4102	5946	SO:0001589	frameshift_variant	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.570delG	6.37:g.146275889delC	ENSP00000356475:p.Gly190fs		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.W191fs	ENST00000367505.2	37	c.570	CCDS43513.2	6																																																																																			SHPRH	-	NULL	ENSG00000146414		0.373	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2		0	38	0	C	NM_173082		146275889	-1	tier1		no_errors	ENST00000367503	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.000	-	-	146275889	C	-	146275889	7	5	178	1	0	1	0	1	0	0	0	0	14336	494	18	0	4641	0	SHPRH	6	146275889	Frame_Shift_Del	DEL	C	TCGA-XP-A8T6-01A-11D-A36J-09	9679161	146275889	24839178	83	44286											
LATS1	9113	genome.wustl.edu	37	chr6	150005477	150005477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggagtctggcctcttggagGtggtggaggagtaacactcc	7	9	17	8	0	2	0	0	0	2	0	3	4	3	4	2	7	1	1	2	7	1	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:150005477G>T	ENST00000543571.1	-	4	1295	c.748C>A	c.(748-750)Cct>Act	p.P250T	LATS1_ENST00000392273.3_Missense_Mutation_p.P250T|LATS1_ENST00000253339.5_Missense_Mutation_p.P250T|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)		CCTCTTGGAGGTGGTGGAGGA	0.512																																																	0													160	148	152					6																	150005477		2203	4300	6503	SO:0001583	missense	0			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.748C>A	6.37:g.150005477G>T	ENSP00000437550:p.Pro250Thr			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.P250T	ENST00000543571.1	37	c.748	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139806	0.56936	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273;ENST00000458696	T;T;T;D	0.90004	0.26;0.26;2.92;-2.6	4.94	4.94	0.65067	.	0.000000	0.51477	D	0.000087	D	0.82604	0.5073	L	0.47716	1.5	0.35037	D	0.759385	P;P;B	0.42827	0.791;0.763;0.18	B;B;B	0.41813	0.272;0.367;0.023	T	0.83330	-0.0013	9	.	.	.	.	18.1544	0.89686	0.0:0.0:1.0:0.0	.	102;250;250	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	T	250;250;250;196	ENSP00000437550:P250T;ENSP00000253339:P250T;ENSP00000444678:P250T;ENSP00000441265:P196T	.	P	-	1	0	LATS1	150047170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.064000	0.64338	2.282000	0.76494	0.655000	0.94253	CCT	LATS1	-	NULL	ENSG00000131023		0.512	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4		0	71	0	G	NM_004690		150005477	-1			no_errors	ENST00000253339	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	150005477	G	T	150005477	3	4	178	1	0	0	0	0	1	0	0	0	8674	1261	44	3	2664	3	LATS1	6	150005477	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	3729588	150005477	21109590	84	44287											
RBM16	22828	genome.wustl.edu	37	chr6	155143418	155143418	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattttgtttagagtgggaaActgtgaaaagctcagaacct	13	13	10	5	0	1	3	1	1	0	2	1	4	1	4	1	1	3	2	1	1	6	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr6:155143418A>T	ENST00000367178.3	+	16	2377	c.1801A>T	c.(1801-1803)Act>Tct	p.T601S	SCAF8_ENST00000417268.1_Missense_Mutation_p.T601S|RNU6-824P_ENST00000363724.1_RNA|SCAF8_ENST00000367186.4_Missense_Mutation_p.T667S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	601					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						AGAGTGGGAAACTGTGAAAAG	0.388																																																	0													91	90	90					6																	155143418		2203	4300	6503	SO:0001583	missense	0			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.1801A>T	6.37:g.155143418A>T	ENSP00000356146:p.Thr601Ser		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.T667S	ENST00000367178.3	37	c.1999	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684673	0.68157	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.45668	0.9;0.9;0.89	5.8	5.8	0.92144	.	0.092655	0.49305	U	0.000149	T	0.18882	0.0453	L	0.27053	0.805	0.34375	D	0.692511	B;P;P;P	0.49961	0.0;0.456;0.93;0.456	B;B;P;B	0.49140	0.001;0.175;0.601;0.175	T	0.03483	-1.1032	10	0.09084	T	0.74	.	10.4753	0.44661	0.9276:0.0:0.0724:0.0	.	646;667;679;601	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	S	601;601;667	ENSP00000356146:T601S;ENSP00000413098:T601S;ENSP00000356154:T667S	ENSP00000356146:T601S	T	+	1	0	SCAF8	155185110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.247000	0.58750	2.216000	0.71823	0.528000	0.53228	ACT	SCAF8	-	NULL	ENSG00000213079		0.388	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	-	0	80	0	A	NM_014892		155143418	1	tier1	-	no_errors	ENST00000367186	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	155143418	A	T	155143418	3	4	178	1	0	0	0	0	1	0	0	0	13163	43	2	5	1863	5	RBM16	6	155143418	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	5137941	155143418	15971649	85	44288											
C7orf36	57002	genome.wustl.edu	37	chr7	39611882	39611882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacttttgttcagtgctttGctctcctggtgtcaccttca	5	18	7	11	0	4	0	3	0	1	0	5	0	4	0	2	1	3	3	2	1	1	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:39611882G>A	ENST00000223273.2	+	3	301	c.258G>A	c.(256-258)ttG>ttA	p.L86L	YAE1D1_ENST00000432096.2_Intron|YAE1D1_ENST00000448268.1_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	86																	TCAGTGCTTTGCTCTCCTGGT	0.318																																																	0													55	54	54					7																	39611882		2203	4300	6503	SO:0001819	synonymous_variant	0			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.258G>A	7.37:g.39611882G>A			A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Silent	SNP	pfam_Essential_protein_Yae1_N	p.L86	ENST00000223273.2	37	c.258	CCDS5459.1	7																																																																																			YAE1D1	-	NULL	ENSG00000241127		0.318	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAE1D1	HGNC	protein_coding	OTTHUMT00000250586.1	-	0	66	0	G	NM_020192		39611882	1	tier1	-	no_errors	ENST00000223273	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	A	A	39611882	G	A	39611882	2	1	178	1	0	0	0	0	0	0	0	1	2397	1310	46	3		3	C7orf36	7	39611882	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09		39611882	119526781	86	44289											
AEBP1	165	genome.wustl.edu	37	chr7	44152676	44152676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttccctcatgagagtgagCtgccccgcgagtgggagaac	9	7	14	11	2	1	3	1	2	0	2	2	6	2	3	3	1	3	2	3	1	1	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:44152676C>T	ENST00000223357.3	+	19	2961	c.2656C>T	c.(2656-2658)Ctg>Ttg	p.L886L	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Silent_p.L461L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	886	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGAGAGTGAGCTGCCCCGCGA	0.597																																																	0													131	140	137					7																	44152676		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2656C>T	7.37:g.44152676C>T			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.L886	ENST00000223357.3	37	c.2656	CCDS5476.1	7																																																																																			AEBP1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000106624		0.597	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	-	0	39	0	C	NM_001129		44152676	1	tier1	-	no_errors	ENST00000223357	ensembl	human	known	74_37	silent	11.36	39	5	SNP	1.000	T	T	44152676	C	T	44152676	2	4	178	1	0	0	0	0	0	0	0	1	349	796	28	3		3	AEBP1	7	44152676	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	4540794	44152676	114985987	87	44290											
ZNF479	90827	genome.wustl.edu	37	chr7	57188226	57188226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	aggctttgccacattcttcaCatttgtagggtctctctcca	7	15	7	12	0	4	0	1	0	3	0	6	0	4	0	2	2	1	2	2	2	1	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:57188226C>G	ENST00000331162.4	-	5	1166	c.896G>C	c.(895-897)tGt>tCt	p.C299S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACATTCTTCACATTTGTAGGG	0.473																																																	0													24	24	24					7																	57188226		2018	4167	6185	SO:0001583	missense	0			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.896G>C	7.37:g.57188226C>G	ENSP00000333776:p.Cys299Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C299S	ENST00000331162.4	37	c.896	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	c	14.78	2.637392	0.47049	.	.	ENSG00000185177	ENST00000331162	D	0.85171	-1.95	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92967	0.7762	H	0.94964	3.605	0.30143	N	0.80379	D	0.67145	0.996	D	0.78314	0.991	D	0.86828	0.2009	9	0.87932	D	0	.	7.4806	0.27402	0.0:1.0:0.0:0.0	.	299	Q96JC4	ZN479_HUMAN	S	299	ENSP00000333776:C299S	ENSP00000333776:C299S	C	-	2	0	ZNF479	57192168	0.996000	0.38824	0.216000	0.23742	0.204000	0.24138	5.258000	0.65479	0.453000	0.26858	0.456000	0.33151	TGT	ZNF479	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185177		0.473	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	-	0	130	0	C	XM_291202		57188226	-1	tier1	-	no_errors	ENST00000331162	ensembl	human	known	74_37	missense	5.79	114	7	SNP	0.746	G	G	57188226	C	G	57188226	3	3	178	1	0	0	0	0	1	0	0	0	17981	478	17	5	682	5	ZNF479	7	57188226	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	13035550	57188226	101950437	88	44291											
SEMA3A	10371	genome.wustl.edu	37	chr7	83643617	83643617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaagtatactttgtcatCttcaggattgtcactctctg	11	15	7	8	0	5	0	3	0	2	0	6	2	5	1	0	1	1	1	0	1	4	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:83643617C>G	ENST00000265362.4	-	7	1032	c.718G>C	c.(718-720)Gat>Cat	p.D240H	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D240H	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	240	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						ACTTTGTCATCTTCAGGATTG	0.368																																																	0													87	85	85					7																	83643617		2203	4300	6503	SO:0001583	missense	0			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.718G>C	7.37:g.83643617C>G	ENSP00000265362:p.Asp240His			Missense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.D240H	ENST00000265362.4	37	c.718	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971421	0.92919	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.16897	2.31;2.31	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65792	-0.6082	10	0.87932	D	0	.	19.615	0.95630	0.0:1.0:0.0:0.0	.	240	Q14563	SEM3A_HUMAN	H	240	ENSP00000265362:D240H;ENSP00000415260:D240H	ENSP00000265362:D240H	D	-	1	0	SEMA3A	83481553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.630000	0.89119	0.655000	0.94253	GAT	SEMA3A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000075213		0.368	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	-	0	55	0	C	NM_006080		83643617	-1	tier1	-	no_errors	ENST00000265362	ensembl	human	known	74_37	missense	32.79	41	20	SNP	1.000	G	G	83643617	C	G	83643617	3	3	178	1	0	0	0	0	1	0	0	0	14069	913	32	5	1641	5	SEMA3A	7	83643617	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	26455391	83643617	75495046	89	44292											
DMTF1	9988	genome.wustl.edu	37	chr7	86795900	86795901	+	Frame_Shift_Ins	INS	-	-	T																															tgatgattctactccttgcaINStatcagttgttgcacttcca																										TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:86795900_86795901insT	ENST00000394703.5	+	6	774_775	c.211_212insT	c.(211-213)atafs	p.I71fs	DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000331242.7_Frame_Shift_Ins_p.I71fs|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000394702.3_Frame_Shift_Ins_p.I71fs|DMTF1_ENST00000413276.2_Frame_Shift_Ins_p.I71fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	71	Interaction with CCND2. {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)					TACTCCTTGCATATCAGTTGTT	0.391																																																	0																																										SO:0001589	frameshift_variant	0			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.212dupT	7.37:g.86795901_86795901dupT	ENSP00000378193:p.Ile71fs		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Ins	INS	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S72fs	ENST00000394703.5	37	c.211_212	CCDS5601.1	7																																																																																			DMTF1	-	NULL	ENSG00000135164		0.391	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	DMTF1	HGNC	protein_coding	OTTHUMT00000334025.5		0	123	0	-	NM_021145		86795901	1	tier1		no_errors	ENST00000331242	ensembl	human	known	74_37	frame_shift_ins	23.39	95	29	INS	1.000:1.000	T	T	86795901	-	T	86795900	7	5	178	1	0	1	1	0	0	0	0	0	4606	217	8	0	217	0	DMTF1	7	86795900	Frame_Shift_Ins	INS	-	TCGA-XP-A8T6-01A-11D-A36J-09	3152283	86795900	72342763	90	44293											
DMTF1	9988	genome.wustl.edu	37	chr7	86823243	86823243	+	Missense_Mutation	SNP	A	A	G	1	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	tttcccagatgaaattcatcAccctaagatgactgtggagc	12	11	8	10	0	2	4	2	2	0	2	3	5	3	5	2	1	1	0	2	1	2	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:86823243A>G	ENST00000394703.5	+	18	2416	c.1853A>G	c.(1852-1854)cAc>cGc	p.H618R	DMTF1_ENST00000432937.2_Missense_Mutation_p.H530R|DMTF1_ENST00000331242.7_Missense_Mutation_p.H618R|DMTF1_ENST00000414194.2_Missense_Mutation_p.H352R|DMTF1_ENST00000413276.2_Missense_Mutation_p.H548R|TMEM243_ENST00000481425.1_5'Flank	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	618	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)	p.H618R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GAAATTCATCACCCTAAGATG	0.423																																																	1	Substitution - Missense(1)	endometrium(1)											106	99	101					7																	86823243		2203	4300	6503	SO:0001583	missense	0			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.1853A>G	7.37:g.86823243A>G	ENSP00000378193:p.His618Arg		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.H618R	ENST00000394703.5	37	c.1853	CCDS5601.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.702|9.702	1.154750|1.154750	0.21371|0.21371	.|.	.|.	ENSG00000135164|ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194|ENST00000454008	T;T;T;T;T|.	0.39592|.	1.09;1.07;1.09;1.09;1.08|.	6.03|6.03	2.44|2.44	0.29823|0.29823	.|.	0.454008|.	0.23220|.	N|.	0.050570|.	T|T	0.11110|0.11110	0.0271|0.0271	N|N	0.03608|0.03608	-0.345|-0.345	0.24173|0.24173	N|N	0.995613|0.995613	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.29366|0.29366	-1.0014|-1.0014	10|5	0.05620|.	T|.	0.96|.	0.2151|0.2151	4.7441|4.7441	0.13029|0.13029	0.6001:0.1518:0.2481:0.0|0.6001:0.1518:0.2481:0.0	.|.	618|.	Q9Y222|.	DMTF1_HUMAN|.	R|A	618;548;530;618;352|86	ENSP00000332171:H618R;ENSP00000402627:H548R;ENSP00000412532:H530R;ENSP00000378193:H618R;ENSP00000415910:H352R|.	ENSP00000332171:H618R|.	H|T	+|+	2|1	0|0	DMTF1|DMTF1	86661179|86661179	0.998000|0.998000	0.40836|0.40836	0.989000|0.989000	0.46669|0.46669	0.980000|0.980000	0.70556|0.70556	1.189000|1.189000	0.32114|0.32114	0.514000|0.514000	0.28300|0.28300	0.533000|0.533000	0.62120|0.62120	CAC|ACC	DMTF1	-	NULL	ENSG00000135164		0.423	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	DMTF1	HGNC	protein_coding	OTTHUMT00000334025.5		0	34	0	A	NM_021145		86823243	1			no_errors	ENST00000331242	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.984	G	G	86823243	A	G	86823243	3	3	178	1	0	0	0	0	1	0	0	0	4606	159	6	4	1907	4	DMTF1	7	86823243	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	27343	86823243	72315420	91	44294											
ZNF804B	219578	genome.wustl.edu	37	chr7	88962978	88962978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttactttttccaaaaaagtgCacctaaaattagaatcttca	16	14	3	8	0	2	1	1	0	1	1	3	1	3	1	2	0	2	1	2	0	8	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:88962978C>A	ENST00000333190.4	+	4	1291	c.682C>A	c.(682-684)Cac>Aac	p.H228N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	228							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAAAAAGTGCACCTAAAATT	0.363										HNSCC(36;0.09)																																							0													66	65	66					7																	88962978		2203	4299	6502	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.682C>A	7.37:g.88962978C>A	ENSP00000329638:p.His228Asn		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.H228N	ENST00000333190.4	37	c.682	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269118	0.23221	.	.	ENSG00000182348	ENST00000333190	T	0.04917	3.53	5.04	4.15	0.48705	.	0.213737	0.33040	N	0.005353	T	0.04907	0.0132	L	0.29908	0.895	0.25517	N	0.987406	B	0.29627	0.252	B	0.26693	0.072	T	0.37820	-0.9689	10	0.27082	T	0.32	-10.6726	9.1175	0.36766	0.0:0.8336:0.0:0.1664	.	228	A4D1E1	Z804B_HUMAN	N	228	ENSP00000329638:H228N	ENSP00000329638:H228N	H	+	1	0	ZNF804B	88800914	0.997000	0.39634	0.986000	0.45419	0.993000	0.82548	4.067000	0.57527	1.333000	0.45449	0.655000	0.94253	CAC	ZNF804B	-	NULL	ENSG00000182348		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	35	0	C	NM_181646		88962978	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.974	A	A	88962978	C	A	88962978	3	1	178	1	0	0	0	0	1	0	0	0	18219	710	25	3	696	3	ZNF804B	7	88962978	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	2139735	88962978	70175685	92	44295											
AKAP9	10142	genome.wustl.edu	37	chr7	91646416	91646416	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaacacgactaagcaaGgtctgtgagatggaaaatat	16	9	9	7	1	2	1	1	1	1	1	2	4	2	2	0	2	2	1	0	2	6	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:91646416G>T	ENST00000359028.2	+	13	4098	c.3873G>T	c.(3871-3873)aaG>aaT	p.K1291N	AKAP9_ENST00000358100.2_Splice_Site_p.K1291N|AKAP9_ENST00000356239.3_Splice_Site_p.K1279N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1291					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)			GACTAAGCAAGGTCTGTGAGA	0.318			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													71	64	66					7																	91646416		2201	4292	6493	SO:0001630	splice_region_variant	0			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.3873+1G>T	7.37:g.91646416G>T			A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.K1291N	ENST00000359028.2	37	c.3873		7	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328031	0.24080	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03441	3.94;3.94;3.93	4.25	2.42	0.29668	.	0.000000	0.39475	N	0.001357	T	0.10423	0.0255	M	0.67953	2.075	0.28226	N	0.92632	P;P;D;D	0.62365	0.895;0.879;0.991;0.99	B;B;P;P	0.58266	0.373;0.324;0.586;0.836	T	0.01626	-1.1309	10	0.72032	D	0.01	.	8.0348	0.30486	0.2047:0.0:0.7953:0.0	.	1291;1279;1279;1291	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	N	1279;1291;1291;1291;1291	ENSP00000348573:K1279N;ENSP00000351922:K1291N;ENSP00000350813:K1291N	ENSP00000348573:K1279N	K	+	3	2	AKAP9	91484352	0.997000	0.39634	0.993000	0.49108	0.367000	0.29736	0.769000	0.26604	1.135000	0.42183	0.655000	0.94253	AAG	AKAP9	-	NULL	ENSG00000127914		0.318	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0	52	0	G	NM_005751	Missense_Mutation	91646416	1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.947	T	T	91646416	G	T	91646416	5	4	178	1	0	0	0	0	0	0	1	0	459	1014	35	3	3883	3	AKAP9	7	91646416	Splice_Site	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	2683438	91646416	67492247	93	44296											
PPP1R9A	55607	genome.wustl.edu	37	chr7	94879515	94879515	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaaagccagtatcaggccTtggaaaagaaatacaacaag	18	6	8	9	0	2	1	2	0	0	1	2	2	2	2	2	2	3	1	2	2	8	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:94879515T>A	ENST00000433881.1	+	9	2810	c.2278T>A	c.(2278-2280)Ttg>Atg	p.L760M	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.L760M|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L760M|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L760M|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L760M|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L782M			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	760	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTATCAGGCCTTGGAAAAGAA	0.378										HNSCC(28;0.073)																																							0													64	61	62					7																	94879515		2203	4300	6503	SO:0001583	missense	0			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.2278T>A	7.37:g.94879515T>A	ENSP00000398870:p.Leu760Met		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.L760M	ENST00000433881.1	37	c.2278	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031206	0.75504	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.55760	0.5;0.71;0.54;0.71;0.64;0.54	5.22	-5.57	0.02521	.	0.000000	0.64402	D	0.000001	T	0.68063	0.2960	M	0.75085	2.285	0.47214	D	0.999354	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.986;1.0;0.996;0.998;0.999	T	0.73917	-0.3831	10	0.87932	D	0	.	18.2473	0.89991	0.0:0.7991:0.0:0.2009	.	760;760;782;760;760	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	M	782;760;760;760;760;760	ENSP00000405514:L782M;ENSP00000344524:L760M;ENSP00000411342:L760M;ENSP00000398870:L760M;ENSP00000289495:L760M;ENSP00000402893:L760M	ENSP00000289495:L760M	L	+	1	2	PPP1R9A	94717451	0.996000	0.38824	0.904000	0.35570	0.968000	0.65278	0.849000	0.27723	-0.957000	0.03627	-0.250000	0.11733	TTG	PPP1R9A	-	superfamily_Smac_DIABLO-like	ENSG00000158528		0.378	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	-	0	80	0	T	NM_001166160		94879515	1	tier1	-	no_errors	ENST00000289495	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.999	A	A	94879515	T	A	94879515	3	1	178	1	0	0	0	0	1	0	0	0	12420	1606	56	5	2378	5	PPP1R9A	7	94879515	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	3233099	94879515	64259148	94	44297											
TRRAP	8295	genome.wustl.edu	37	chr7	98515126	98515126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtctcaccgtccctgtgCggctgagctcgcttttgccg	2	13	12	14	4	1	1	1	1	1	0	4	1	2	1	3	1	3	3	3	1	0	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:98515126C>T	ENST00000359863.4	+	20	2655	c.2446C>T	c.(2446-2448)Cgg>Tgg	p.R816W	TRRAP_ENST00000355540.3_Missense_Mutation_p.R816W|TRRAP_ENST00000446306.3_Missense_Mutation_p.R815W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	816					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.R816W(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)			CGTCCCTGTGCGGCTGAGCTC	0.577																																																	2	Substitution - Missense(2)	pancreas(2)											152	126	135					7																	98515126		2203	4300	6503	SO:0001583	missense	0			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.2446C>T	7.37:g.98515126C>T	ENSP00000352925:p.Arg816Trp		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R816W	ENST00000359863.4	37	c.2446	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160699	0.57368	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.07216	3.21;3.21	5.56	3.71	0.42584	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	M	0.93808	3.46	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	0.54423	-0.8296	10	0.87932	D	0	.	14.7884	0.69821	0.2633:0.7367:0.0:0.0	.	816;530;816	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	816;816;814	ENSP00000352925:R816W;ENSP00000347733:R816W	ENSP00000347733:R816W	R	+	1	2	TRRAP	98353062	0.980000	0.34600	0.975000	0.42487	0.089000	0.18198	2.056000	0.41355	0.683000	0.31428	0.456000	0.33151	CGG	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.577	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1		0	46	0	C	NM_003496		98515126	1			no_errors	ENST00000359863	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	98515126	C	T	98515126	3	4	178	1	0	0	0	0	1	0	0	0	16649	759	27	1	2520	1	TRRAP	7	98515126	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	3635611	98515126	60623537	95	44298											
AP1S1	1174	genome.wustl.edu	37	chr7	100799996	100799996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgcaggttgtcctggctcGaaagcccaagatgtgcagct	9	9	12	11	1	0	1	0	0	0	1	2	2	1	1	2	2	4	5	2	2	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:100799996G>A	ENST00000337619.5	+	2	243	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	42					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)					GTCCTGGCTCGAAAGCCCAAG	0.542																																																	0													43	48	46					7																	100799996		2034	4179	6213	SO:0001583	missense	0			AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, small 1 (19kD)", "clathrin coat assembly protein AP19", "sigma1A subunit of AP-1 clathrin adaptor complex", "AP-1 complex subunit sigma-1A", "sigma1A-adaptin", "golgi adaptor HA1/AP1 adaptin sigma-1A subunit", "clathrin assembly protein complex 1 sigma-1A small chain", "HA1 19 kDa subunit"	603531	"erythrokeratodermia variabilis 3 (Kamouraska type)"	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.125G>A	7.37:g.100799996G>A	ENSP00000336666:p.Arg42Gln		B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.R42Q	ENST00000337619.5	37	c.125	CCDS47669.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.677419|5.677419	0.96764|0.96764	.|.	.|.	ENSG00000106367|ENSG00000106367	ENST00000429457|ENST00000337619	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Longin-like (1);AP complex, mu/sigma subunit (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91284|0.91284	0.7252|0.7252	H|H	0.99357|0.99357	4.53|4.53	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.94477|0.94477	0.7690|0.7690	5|9	.|0.87932	.|D	.|0	-0.3788|-0.3788	17.6324|17.6324	0.88113|0.88113	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|42	.|P61966	.|AP1S1_HUMAN	K|Q	84|42	.|.	.|ENSP00000336666:R42Q	E|R	+|+	1|2	0|0	AP1S1|AP1S1	100586716|100586716	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.191000|9.191000	0.94940|0.94940	2.767000|2.767000	0.95098|0.95098	0.561000|0.561000	0.74099|0.74099	GAA|CGA	AP1S1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	ENSG00000106367		0.542	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1S1	HGNC	protein_coding	OTTHUMT00000347439.1	-	0	40	0	G	NM_001283		100799996	1	tier1	-	no_errors	ENST00000337619	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	A	A	100799996	G	A	100799996	3	1	178	1	0	0	0	0	1	0	0	0	736	1058	37	1	131	1	AP1S1	7	100799996	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	2284870	100799996	58338667	96	44299											
COG5	10466	genome.wustl.edu	37	chr7	106888850	106888850	+	Missense_Mutation	SNP	T	T	C	0	1	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	gaagtaattacccagaaaagTcttcttgatgcatggtgatg	13	12	10	6	0	2	3	0	2	2	1	2	4	2	3	1	1	2	2	1	1	5	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:106888850T>C	ENST00000347053.3	-	16	1924	c.1874A>G	c.(1873-1875)gAc>gGc	p.D625G	COG5_ENST00000297135.3_Missense_Mutation_p.D646G|COG5_ENST00000393603.2_Missense_Mutation_p.D646G	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	625					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCCAGAAAAGTCTTCTTGATG	0.408																																																	0													116	112	113					7																	106888850		2203	4300	6503	SO:0001583	missense	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1874A>G	7.37:g.106888850T>C	ENSP00000334703:p.Asp625Gly		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_Cog5	p.D646G	ENST00000347053.3	37	c.1937	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608348	0.87258	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.58060	0.36;0.36;0.36	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.66066	0.2752	L	0.43598	1.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.975;0.989	T	0.67522	-0.5649	10	0.59425	D	0.04	-18.7183	15.8762	0.79166	0.0:0.0:0.0:1.0	.	625;646	Q9UP83;Q9UP83-2	COG5_HUMAN;.	G	625;646;646	ENSP00000334703:D625G;ENSP00000297135:D646G;ENSP00000377228:D646G	ENSP00000297135:D646G	D	-	2	0	COG5	106676086	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.760000	0.74939	2.231000	0.72958	0.460000	0.39030	GAC	COG5	-	NULL	ENSG00000164597		0.408	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	-	0	96	0	T			106888850	-1	tier1	-	no_errors	ENST00000297135	ensembl	human	known	74_37	missense	13.08	92	14	SNP	1.000	C	C	106888850	T	C	106888850	3	2	178	1	0	0	0	0	1	0	0	0	3668	1667	58	4	673	4	COG5	7	106888850	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	6088854	106888850	52249813	97	44300											
WDR91	29062	genome.wustl.edu	37	chr7	134882799	134882799	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttgccatggtcctgcagGcgccgctgccggtgctgtga	3	10	14	14	3	0	1	0	1	0	0	2	1	2	1	5	3	4	3	5	3	0	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:134882799G>T	ENST00000354475.4	-	7	1027	c.996C>A	c.(994-996)cgC>cgA	p.R332R	WDR91_ENST00000344400.5_Silent_p.R332R|WDR91_ENST00000423565.1_Silent_p.R297R|AC009542.2_ENST00000412549.2_RNA|AC009542.2_ENST00000595902.1_RNA|WDR91_ENST00000485942.1_5'UTR	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	332										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGTCCTGCAGGCGCCGCTGCC	0.627																																																	0													79	75	77					7																	134882799		2203	4300	6503	SO:0001819	synonymous_variant	0			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.996C>A	7.37:g.134882799G>T			A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R332	ENST00000354475.4	37	c.996	CCDS34758.1	7																																																																																			WDR91	-	NULL	ENSG00000105875		0.627	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR91	HGNC	protein_coding	OTTHUMT00000340019.1	-	0	51	0	G	NM_014149		134882799	-1	tier1	-	no_errors	ENST00000354475	ensembl	human	known	74_37	silent	24.39	31	10	SNP	1.000	T	T	134882799	G	T	134882799	2	4	178	1	0	0	0	0	0	0	0	1	17387	1190	42	3		3	WDR91	7	134882799	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	27993949	134882799	24255864	98	44301											
CHPF2	54480	genome.wustl.edu	37	chr7	150935231	150935231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttcttccttaccaccGtgtggacaaggcctgggccc	5	11	9	16	1	2	0	0	0	2	0	4	1	3	1	5	3	1	0	5	3	2	3	rs375779152		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:150935231G>A	ENST00000035307.2	+	4	3296	c.1783G>A	c.(1783-1785)Gtg>Atg	p.V595M	CHPF2_ENST00000495645.1_Missense_Mutation_p.V587M|MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	595					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						CCTTACCACCGTGTGGACAAG	0.597																																																	0													58	52	54					7																	150935231		2203	4300	6503	SO:0001583	missense	0			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.1783G>A	7.37:g.150935231G>A	ENSP00000035307:p.Val595Met		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.V595M	ENST00000035307.2	37	c.1783	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579687	0.65992	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.19669	2.13;2.13	4.71	4.71	0.59529	.	0.063395	0.64402	D	0.000007	T	0.45617	0.1351	M	0.67953	2.075	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.922	T	0.43718	-0.9374	10	0.62326	D	0.03	-21.2239	16.8572	0.86009	0.0:0.0:1.0:0.0	.	595;587	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	M	587;595;595	ENSP00000418914:V587M;ENSP00000035307:V595M	ENSP00000035307:V595M	V	+	1	0	CHPF2	150566164	1.000000	0.71417	0.993000	0.49108	0.657000	0.38888	7.709000	0.84645	2.440000	0.82611	0.585000	0.79938	GTG	CHPF2	-	pfam_Chond_GalNAc	ENSG00000033100		0.597	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2		0	52	0	G	NM_019015		150935231	1			no_errors	ENST00000035307	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	A	A	150935231	G	A	150935231	3	1	178	1	0	0	0	0	1	0	0	0	3376	1145	40	1	1797	1	CHPF2	7	150935231	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	16052432	150935231	8203432	99	44302											
UBE3C	9690	genome.wustl.edu	37	chr7	156979534	156979534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtatgttctaggaggatGgcagactgtcagtatcatac	10	12	12	7	0	3	1	2	0	1	1	3	3	3	3	0	4	1	4	0	4	4	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr7:156979534G>A	ENST00000348165.5	+	10	1510	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	UBE3C_ENST00000389103.4_Missense_Mutation_p.G341S	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	384					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)		CTAGGAGGATGGCAGACTGTC	0.468																																																	0													127	100	109					7																	156979534		2203	4300	6503	SO:0001583	missense	0			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.1150G>A	7.37:g.156979534G>A	ENSP00000309198:p.Gly384Ser		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.G384S	ENST00000348165.5	37	c.1150	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	12.41	1.931081	0.34096	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.40476	1.03	5.44	5.44	0.79542	.	0.044496	0.85682	D	0.000000	T	0.24890	0.0604	N	0.11064	0.09	0.58432	D	0.999998	B;B;B	0.20671	0.001;0.047;0.047	B;B;B	0.19391	0.002;0.014;0.025	T	0.14254	-1.0479	10	0.05351	T	0.99	.	19.2596	0.93962	0.0:0.0:1.0:0.0	.	384;384;341	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	S	384;341	ENSP00000309198:G384S	ENSP00000309198:G384S	G	+	1	0	UBE3C	156672295	1.000000	0.71417	0.966000	0.40874	0.460000	0.32559	4.658000	0.61497	2.551000	0.86045	0.655000	0.94253	GGC	UBE3C	-	NULL	ENSG00000009335		0.468	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	-	0	83	0	G	NM_014671		156979534	1	tier1	-	no_errors	ENST00000348165	ensembl	human	known	74_37	missense	21.43	55	15	SNP	1.000	A	A	156979534	G	A	156979534	3	1	178	1	0	0	0	0	1	0	0	0	16930	1348	47	3	1188	3	UBE3C	7	156979534	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	6044303	156979534	2159129	100	44303											
GSR	2936	genome.wustl.edu	37	chr8	30560690	30560690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gggcggtgtactttttcccaCtgacctctattgtgggcttg	4	15	12	10	1	1	1	0	1	1	0	2	1	2	1	2	3	1	2	2	3	2	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:30560690C>A	ENST00000221130.5	-	5	650	c.560G>T	c.(559-561)aGt>aTt	p.S187I	GSR_ENST00000537535.1_Missense_Mutation_p.S187I|GSR_ENST00000546342.1_Missense_Mutation_p.S187I|GSR_ENST00000414019.1_Missense_Mutation_p.S144I|GSR_ENST00000541648.1_Missense_Mutation_p.S187I	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	187					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)	CTTTTTCCCACTGACCTCTAT	0.522																																																	0													256	213	227					8																	30560690		2203	4300	6503	SO:0001583	missense	0				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.560G>T	8.37:g.30560690C>A	ENSP00000221130:p.Ser187Ile		C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac	p.S187I	ENST00000221130.5	37	c.560	CCDS34877.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.376039|1.376039	0.24857|0.24857	.|.	.|.	ENSG00000104687|ENSG00000104687	ENST00000520888|ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535;ENST00000521479	.|T;T;T;T;T;D	.|0.83673	.|1.71;1.71;0.86;0.86;0.86;-1.75	6.14|6.14	-2.3|-2.3	0.06785|0.06785	.|Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	.|0.259259	.|0.48767	.|D	.|0.000179	T|T	0.73636|0.73636	0.3612|0.3612	L|L	0.41906|0.41906	1.305|1.305	0.27087|0.27087	N|N	0.962931|0.962931	.|B	.|0.30361	.|0.277	.|B	.|0.32342	.|0.144	T|T	0.65425|0.65425	-0.6171|-0.6171	5|10	.|0.87932	.|D	.|0	-9.2409|-9.2409	11.4741|11.4741	0.50286|0.50286	0.0:0.4314:0.0:0.5686|0.0:0.4314:0.0:0.5686	.|.	.|187	.|P00390	.|GSHR_HUMAN	H|I	142|187;144;187;187;187;75	.|ENSP00000221130:S187I;ENSP00000390065:S144I;ENSP00000445516:S187I;ENSP00000444559:S187I;ENSP00000438845:S187I;ENSP00000430825:S75I	.|ENSP00000221130:S187I	Q|S	-|-	3|2	2|0	GSR|GSR	30680232|30680232	0.775000|0.775000	0.28604|0.28604	0.014000|0.014000	0.15608|0.15608	0.015000|0.015000	0.08874|0.08874	0.427000|0.427000	0.21379|0.21379	-0.627000|-0.627000	0.05589|0.05589	-0.377000|-0.377000	0.06932|0.06932	CAG|AGT	GSR	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,tigrfam_Glutathione_Rdtase_euk/bac	ENSG00000104687		0.522	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSR	HGNC	protein_coding	OTTHUMT00000376519.1	-	0	55	0	C			30560690	-1	tier1	-	no_errors	ENST00000221130	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.813	A	A	30560690	C	A	30560690	3	1	178	1	0	0	0	0	1	0	0	0	6855	565	20	3	1044	3	GSR	8	30560690	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09		30560690	115803332	101	44304											
RNF122	79845	genome.wustl.edu	37	chr8	33406939	33406939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacgtacttgcggtgaaaGgcgtgttggcacgggagcac	8	7	15	11	4	0	1	0	1	0	0	0	2	0	2	1	4	3	4	1	4	2	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:33406939G>A	ENST00000256257.1	-	5	743	c.342C>T	c.(340-342)gcC>gcT	p.A114A		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	114						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)		TGCGGTGAAAGGCGTGTTGGC	0.532																																																	0													131	101	111					8																	33406939		2203	4300	6503	SO:0001819	synonymous_variant	0			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.342C>T	8.37:g.33406939G>A			Q52LK3	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A114	ENST00000256257.1	37	c.342	CCDS6091.1	8																																																																																			RNF122	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000133874		0.532	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF122	HGNC	protein_coding	OTTHUMT00000376562.1	-	0	46	0	G	NM_024787		33406939	-1	tier1	-	no_errors	ENST00000256257	ensembl	human	known	74_37	silent	19.57	37	9	SNP	0.998	A	A	33406939	G	A	33406939	2	1	178	1	0	0	0	0	0	0	0	1	13477	987	35	3		3	RNF122	8	33406939	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	2846249	33406939	112957083	102	44305											
MYST3	7994	genome.wustl.edu	37	chr8	41836217	41836217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattggattagtatagcgcCgttttatctgtgctgccttc	6	17	9	9	2	1	0	0	0	1	0	2	1	1	1	2	1	3	3	2	1	5	8			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:41836217C>T	ENST00000396930.3	-	7	1529	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	KAT6A_ENST00000485568.1_Missense_Mutation_p.R329Q|KAT6A_ENST00000265713.2_Missense_Mutation_p.R329Q|KAT6A_ENST00000406337.1_Missense_Mutation_p.R329Q	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	329	Interaction with PML.|Interaction with RUNX1-1.				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)										AGTATAGCGCCGTTTTATCTG	0.388																																																	0													302	294	297					8																	41836217		2203	4300	6503	SO:0001583	missense	0			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.986G>A	8.37:g.41836217C>T	ENSP00000380136:p.Arg329Gln		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R329Q	ENST00000396930.3	37	c.986	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709925	0.68730	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84873	0.12;0.12;0.12;-1.91	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000003	D	0.87997	0.6319	N	0.21545	0.675	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.88845	0.3315	10	0.52906	T	0.07	-20.936	19.4191	0.94713	0.0:1.0:0.0:0.0	.	329;329	A5PLL3;Q92794	.;KAT6A_HUMAN	Q	329	ENSP00000265713:R329Q;ENSP00000385888:R329Q;ENSP00000380136:R329Q;ENSP00000430606:R329Q	ENSP00000265713:R329Q	R	-	2	0	KAT6A	41955374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.754000	0.68743	2.572000	0.86782	0.644000	0.83932	CGG	KAT6A	-	superfamily_Znf_FYVE_PHD	ENSG00000083168		0.388	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	-	0	98	0	C	NM_006766		41836217	-1	tier1	-	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	35.38	41	23	SNP	1.000	T	T	41836217	C	T	41836217	3	4	178	1	0	0	0	0	1	0	0	0	10142	652	23	1	5076	1	MYST3	8	41836217	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	8429278	41836217	104527805	103	44306											
DKK4	27121	genome.wustl.edu	37	chr8	42232393	42232393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctcatcaagctgcctttCtaatattggggttgcatctt	7	17	8	9	0	4	0	2	0	2	0	4	0	4	0	1	2	4	4	1	2	3	7			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:42232393C>T	ENST00000220812.2	-	3	487	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	101					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			AGCTGCCTTTCTAATATTGGG	0.448																																																	0													216	198	204					8																	42232393		2203	4300	6503	SO:0001583	missense	0			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"dickkopf (Xenopus laevis) homolog 4", "dickkopf homolog 4 (Xenopus laevis)"			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.301G>A	8.37:g.42232393C>T	ENSP00000220812:p.Glu101Lys		Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	pfam_Dickkopf_N,pfam_Prokineticin_domain	p.E101K	ENST00000220812.2	37	c.301	CCDS6130.1	8	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005650	0.35415	.	.	ENSG00000104371	ENST00000543914;ENST00000220812	T	0.30182	1.54	5.17	5.17	0.71159	.	0.581392	0.16243	N	0.223073	T	0.27559	0.0677	L	0.29908	0.895	0.35170	D	0.771502	P	0.46784	0.884	P	0.46419	0.516	T	0.06752	-1.0809	10	0.10636	T	0.68	-7.3604	14.5151	0.67814	0.0:1.0:0.0:0.0	.	101	Q9UBT3	DKK4_HUMAN	K	101	ENSP00000220812:E101K	ENSP00000220812:E101K	E	-	1	0	DKK4	42351550	0.842000	0.29525	0.186000	0.23195	0.003000	0.03518	3.992000	0.56980	2.556000	0.86216	0.555000	0.69702	GAA	DKK4	-	NULL	ENSG00000104371		0.448	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK4	HGNC	protein_coding	OTTHUMT00000377563.1	-	0	76	0	C			42232393	-1	tier1	-	no_errors	ENST00000220812	ensembl	human	known	74_37	missense	16.00	42	8	SNP	0.865	T	T	42232393	C	T	42232393	3	4	178	1	0	0	0	0	1	0	0	0	4561	922	32	3	381	3	DKK4	8	42232393	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	396176	42232393	104131629	104	44307											
PCMTD1	115294	genome.wustl.edu	37	chr8	52773576	52773576	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtaagcattgtctctgtAgccttccaaatagtaatctc	10	16	6	9	0	2	0	0	0	2	0	5	0	3	0	2	0	2	4	2	0	5	7			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:52773576A>G	ENST00000360540.5	-	3	542	c.136T>C	c.(136-138)Tac>Cac	p.Y46H	PCMTD1_ENST00000521344.1_Missense_Mutation_p.Y46H|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000522514.1_Missense_Mutation_p.Y46H	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	46						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)				TTGTCTCTGTAGCCTTCCAAA	0.388																																																	0													111	101	105					8																	52773576		2203	4300	6503	SO:0001583	missense	0				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.136T>C	8.37:g.52773576A>G	ENSP00000353739:p.Tyr46His		Q96FK9	Missense_Mutation	SNP	pfam_PCMT	p.Y46H	ENST00000360540.5	37	c.136	CCDS6148.1	8	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749687	0.69533	.	.	ENSG00000168300	ENST00000360540;ENST00000522514;ENST00000521344	T;T;T	0.50277	0.75;0.75;0.75	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	L	0.32530	0.975	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.14699	-1.0463	10	0.22706	T	0.39	-29.9348	15.8734	0.79141	1.0:0.0:0.0:0.0	.	46	Q96MG8	PCMD1_HUMAN	H	46	ENSP00000353739:Y46H;ENSP00000428099:Y46H;ENSP00000430168:Y46H	ENSP00000353739:Y46H	Y	-	1	0	PCMTD1	52936129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.962000	0.76048	2.204000	0.70986	0.528000	0.53228	TAC	PCMTD1	-	pfam_PCMT	ENSG00000168300		0.388	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCMTD1	HGNC	protein_coding	OTTHUMT00000377909.2	-	0	39	0	A	NM_052937		52773576	-1	tier1	-	no_errors	ENST00000360540	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	G	G	52773576	A	G	52773576	3	3	178	1	0	0	0	0	1	0	0	0	11625	420	15	4	957	4	PCMTD1	8	52773576	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	10541183	52773576	93590446	105	44308											
KCNS2	3788	genome.wustl.edu	37	chr8	99440687	99440687	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctacaacgacgcctccaaGttcgatgggcagcccctcgg	8	8	10	15	4	1	0	0	0	1	0	4	2	2	0	4	2	3	2	4	2	3	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:99440687G>A	ENST00000287042.4	+	2	830	c.480G>A	c.(478-480)aaG>aaA	p.K160K	KCNS2_ENST00000521839.1_Silent_p.K160K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	160					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)			ACGCCTCCAAGTTCGATGGGC	0.602																																					Pancreas(138;844 2489 9202 24627)												0													62	67	66					8																	99440687		2203	4300	6503	SO:0001819	synonymous_variant	0			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.480G>A	8.37:g.99440687G>A			A8KAN1	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2	p.K160	ENST00000287042.4	37	c.480	CCDS6279.1	8																																																																																			KCNS2	-	NULL	ENSG00000156486		0.602	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS2	HGNC	protein_coding	OTTHUMT00000103134.1		0	20	0	G	NM_020697		99440687	1			no_errors	ENST00000287042	ensembl	human	known	74_37	silent	10.71	25	3	SNP	1.000	A	A	99440687	G	A	99440687	2	1	178	1	0	0	0	0	0	0	0	1	8116	1020	36	3		3	KCNS2	8	99440687	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	46667111	99440687	46923335	106	44309											
EXT1	2131	genome.wustl.edu	37	chr8	118817064	118817064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgagaatgtcctcacaaTtggccaattggtccaccatg	11	11	8	11	0	2	1	2	1	0	1	4	2	4	1	4	2	0	0	4	2	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:118817064T>A	ENST00000378204.2	-	10	2758	c.1952A>T	c.(1951-1953)aAt>aTt	p.N651I		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	651	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTCCTCACAATTGGCCAATTG	0.448			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													189	176	180					8																	118817064		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1952A>T	8.37:g.118817064T>A	ENSP00000367446:p.Asn651Ile		B2R7V2|Q9BVI9	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.N651I	ENST00000378204.2	37	c.1952	CCDS6324.1	8	.	.	.	.	.	.	.	.	.	.	t	24.5	4.537731	0.85917	.	.	ENSG00000182197	ENST00000378204	D	0.91464	-2.85	5.68	4.52	0.55395	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	H	0.96460	3.825	0.58432	D	0.999999	P	0.52316	0.952	P	0.52189	0.692	D	0.95001	0.8143	10	0.62326	D	0.03	-14.304	11.4479	0.50134	0.0:0.0706:0.0:0.9294	.	651	Q16394	EXT1_HUMAN	I	651	ENSP00000367446:N651I	ENSP00000367446:N651I	N	-	2	0	EXT1	118886245	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.036000	0.88901	0.974000	0.38366	0.477000	0.44152	AAT	EXT1	-	pfam_HexNAc_Trfase_a	ENSG00000182197		0.448	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3	-	0	127	0	T	NM_000127		118817064	-1	tier1	-	no_errors	ENST00000378204	ensembl	human	known	74_37	missense	12.87	88	13	SNP	1.000	A	A	118817064	T	A	118817064	3	1	178	1	0	0	0	0	1	0	0	0	5339	1493	52	5	296	5	EXT1	8	118817064	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	19376377	118817064	27546958	107	44310											
ADCY8	114	genome.wustl.edu	37	chr8	132052132	132052132	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggaaaatgacccctcGgtagctatagcccccattaa	11	8	11	11	1	0	1	0	1	0	0	1	2	0	2	4	4	2	2	4	4	6	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:132052132G>T	ENST00000286355.5	-	1	2540	c.448C>A	c.(448-450)Cga>Aga	p.R150R	ADCY8_ENST00000377928.3_Silent_p.R150R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	150					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)			ATGACCCCTCGGTAGCTATAG	0.577										HNSCC(32;0.087)																																							0													33	32	32					8																	132052132		2203	4300	6503	SO:0001819	synonymous_variant	0			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.448C>A	8.37:g.132052132G>T				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R150	ENST00000286355.5	37	c.448	CCDS6363.1	8																																																																																			ADCY8	-	NULL	ENSG00000155897		0.577	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	114	0	G			132052132	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	silent	36.14	53	30	SNP	1.000	T	T	132052132	G	T	132052132	2	4	178	1	0	0	0	0	0	0	0	1	300	1124	39	2		2	ADCY8	8	132052132	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	13235068	132052132	14311890	108	44311											
EPPK1	83481	genome.wustl.edu	37	chr8	144945772	144945772	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagtggctgcagcctgCtcgagggtggcgctcagctt	4	9	16	12	2	1	0	1	0	0	0	2	1	1	0	1	4	4	6	1	4	0	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:144945772C>T	ENST00000525985.1	-	2	1721	c.1650G>A	c.(1648-1650)gaG>gaA	p.E550E				P58107	EPIPL_HUMAN	epiplakin 1	550						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)			CTGCAGCCTGCTCGAGGGTGG	0.632																																																	0													21	25	24					8																	144945772		2151	4254	6405	SO:0001819	synonymous_variant	0			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.1650G>A	8.37:g.144945772C>T			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.E550	ENST00000525985.1	37	c.1650		8																																																																																			EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.632	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0	53	0	C	NM_031308		144945772	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.657	T	T	144945772	C	T	144945772	2	4	178	1	0	0	0	0	0	0	0	1	5206	796	28	3		3	EPPK1	8	144945772	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	12893640	144945772	1418250	109	44312											
NFKBIL2	4796	genome.wustl.edu	37	chr8	145668590	145668590	+	Silent	SNP	T	T	G	0	1	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	tgcctgcagcaaagcatcccTcgactggcagtggtcataga	10	8	11	12	1	1	1	1	0	0	1	3	2	2	1	2	2	4	4	2	2	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr8:145668590T>G	ENST00000409379.3	-	4	408	c.379A>C	c.(379-381)Agg>Cgg	p.R127R		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						AAAGCATCCCTCGACTGGCAG	0.627																																																	0													77	79	79					8																	145668590		692	1591	2283	SO:0001819	synonymous_variant	0				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.379A>C	8.37:g.145668590T>G			B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R127	ENST00000409379.3	37	c.379	CCDS34968.2	8																																																																																			TONSL	-	NULL	ENSG00000160949		0.627	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2		0	65	0	T	NM_013432		145668590	-1			no_errors	ENST00000409379	ensembl	human	known	74_37	silent	8.06	57	5	SNP	0.000	G	G	145668590	T	G	145668590	2	3	178	1	0	0	0	0	0	0	0	1	10421	1550	54	4		4	NFKBIL2	8	145668590	Silent	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	722818	145668590	695432	110	44313											
FAM166B	730112	genome.wustl.edu	37	chr9	35563176	35563176	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tacaaacctgtgtacccaggGatcatgctggagctgagcct	10	9	11	11	0	1	1	1	1	0	0	1	3	1	3	3	2	6	3	3	2	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:35563176G>C	ENST00000399742.2	-	2	343	c.273C>G	c.(271-273)atC>atG	p.I91M	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	91										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TGTACCCAGGGATCATGCTGG	0.577																																																	0													120	122	121					9																	35563176		2080	4224	6304	SO:0001583	missense	0			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.273C>G	9.37:g.35563176G>C	ENSP00000382646:p.Ile91Met		A1L3B2|B7ZBJ0	Missense_Mutation	SNP	pfam_UPF0573/UPF0605	p.I91M	ENST00000399742.2	37	c.273	CCDS56572.1	9	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478714	0.63849	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.9	1.91	0.25777	.	0.827903	0.09377	U	0.810539	T	0.70020	0.3176	M	0.78049	2.395	0.36081	D	0.842765	D;D;D;D	0.61080	0.981;0.981;0.987;0.989	P;P;P;P	0.61201	0.77;0.77;0.781;0.885	T	0.70684	-0.4804	9	0.72032	D	0.01	-4.735	5.3183	0.15868	0.2275:0.157:0.6155:0.0	.	91;91;91;91	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	M	91	.	ENSP00000382646:I91M	I	-	3	3	FAM166B	35553176	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	0.471000	0.22100	0.787000	0.33731	0.655000	0.94253	ATC	FAM166B	-	NULL	ENSG00000215187		0.577	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM166B	HGNC	protein_coding	OTTHUMT00000336563.1	-	0	39	0	G	NM_001099951		35563176	-1	tier1	-	no_errors	ENST00000447837	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.992	C	C	35563176	G	C	35563176	3	2	178	1	0	0	0	0	1	0	0	0	5501	1164	41	5	393	5	FAM166B	9	35563176	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09		35563176	105650255	111	44314											
PRUNE2	158471	genome.wustl.edu	37	chr9	79320636	79320636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcaggtgaacctttatgaGaggcgggctgagaggagccc	9	8	16	8	1	1	3	1	3	0	2	1	6	1	4	2	4	2	2	2	4	2	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:79320636G>A	ENST00000376718.3	-	8	6677	c.6554C>T	c.(6553-6555)tCt>tTt	p.S2185F	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S1826F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2185					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						ACCTTTATGAGAGGCGGGCTG	0.463																																																	0													115	107	109					9																	79320636		1568	3582	5150	SO:0001583	missense	0			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.6554C>T	9.37:g.79320636G>A	ENSP00000365908:p.Ser2185Phe		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S1826F	ENST00000376718.3	37	c.5477	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768055	0.49680	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.51817	0.69;0.7	5.57	5.57	0.84162	.	0.384240	0.22625	N	0.057645	T	0.46073	0.1374	M	0.64997	1.995	0.80722	D	1	P	0.38992	0.653	B	0.31101	0.124	T	0.54262	-0.8320	10	0.72032	D	0.01	-7.4824	17.7093	0.88317	0.0:0.0:1.0:0.0	.	2185	Q8WUY3	PRUN2_HUMAN	F	2185;1826;2184	ENSP00000365908:S2185F;ENSP00000397425:S1826F	ENSP00000365908:S2185F	S	-	2	0	PRUNE2	78510456	1.000000	0.71417	0.084000	0.20598	0.008000	0.06430	3.401000	0.52601	2.613000	0.88420	0.655000	0.94253	TCT	PRUNE2	-	NULL	ENSG00000106772		0.463	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2		0	51	0	G	NM_138818		79320636	-1			no_errors	ENST00000428286	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.813	A	A	79320636	G	A	79320636	3	1	178	1	0	0	0	0	1	0	0	0	12683	942	33	3	2760	3	PRUNE2	9	79320636	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	43757460	79320636	61892795	112	44315											
KIAA0368	23392	genome.wustl.edu	37	chr9	114124436	114124436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cattcagatgtcaaacattcCcactgtttagattctgcatg	11	14	6	10	0	3	2	2	0	1	2	4	2	4	2	1	0	2	2	1	0	2	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:114124436C>A	ENST00000338205.5	-	49	5613	c.5394G>T	c.(5392-5394)tgG>tgT	p.W1798C	KIAA0368_ENST00000374378.3_Intron|KIAA0368_ENST00000259335.4_Missense_Mutation_p.W1976C			Q5VYK3	ECM29_HUMAN	KIAA0368	1804					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCAAACATTCCCACTGTTTAG	0.363																																																	0													67	63	64					9																	114124436		1881	4103	5984	SO:0001583	missense	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.5394G>T	9.37:g.114124436C>A	ENSP00000339889:p.Trp1798Cys		O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.W1976C	ENST00000338205.5	37	c.5928		9	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123867	0.77436	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.66280	-0.2	5.93	5.93	0.95920	.	0.052483	0.85682	D	0.000000	T	0.78194	0.4245	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76804	-0.2824	10	0.54805	T	0.06	-16.5384	20.3465	0.98790	0.0:1.0:0.0:0.0	.	1273	B3KXF2	.	C	1798;1976;1273	ENSP00000259335:W1976C	ENSP00000259335:W1976C	W	-	3	0	KIAA0368	113164257	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.053000	0.76641	2.798000	0.96311	0.655000	0.94253	TGG	KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.363	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2		0	43	0	C	NM_014686		114124436	-1			no_errors	ENST00000259335	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	A	A	114124436	C	A	114124436	3	1	178	1	0	0	0	0	1	0	0	0	8198	624	22	3	129	3	KIAA0368	9	114124436	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	34803800	114124436	27088995	113	44316											
FPGS	2356	genome.wustl.edu	37	chr9	130570536	130570536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtccctgccttcactgtGctccaacctgaaggtcccct	5	11	9	16	0	1	1	1	1	0	0	4	1	4	1	6	2	3	1	6	2	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:130570536G>A	ENST00000373247.2	+	9	818	c.768G>A	c.(766-768)gtG>gtA	p.V256V	FPGS_ENST00000373225.3_Silent_p.V206V|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_Silent_p.V256V|FPGS_ENST00000393706.2_Silent_p.V230V	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	256					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)	CCTTCACTGTGCTCCAACCTG	0.597																																																	0													119	100	106					9																	130570536		2203	4300	6503	SO:0001819	synonymous_variant	0				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.768G>A	9.37:g.130570536G>A			B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Silent	SNP	superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth	p.V256	ENST00000373247.2	37	c.768	CCDS35148.1	9																																																																																			FPGS	-	superfamily_Mur_ligase_cen,tigrfam_Folylpolyglutamate_synth	ENSG00000136877		0.597	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGS	HGNC	protein_coding	OTTHUMT00000054251.1	-	0	48	0	G			130570536	1	tier1	-	no_errors	ENST00000373247	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.885	A	A	130570536	G	A	130570536	2	1	178	1	0	0	0	0	0	0	0	1	6060	1306	46	3		3	FPGS	9	130570536	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	16446100	130570536	10642895	114	44317											
ENG	2022	genome.wustl.edu	37	chr9	130578326	130578326	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gcaggacgaggcctttgcttGtgcaacctagagagggccga	9	7	15	10	2	0	1	0	0	0	1	0	5	0	2	3	3	3	3	3	3	2	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:130578326G>T	ENST00000373203.4	-	14	2148	c.1748C>A	c.(1747-1749)aCa>aAa	p.T583K	ENG_ENST00000480266.1_5'Flank|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000344849.3_Missense_Mutation_p.T583K|RP11-228B15.4_ENST00000439298.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	583					artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCCTTTGCTTGTGCAACCTAG	0.632									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																																								0													79	60	66					9																	130578326		2201	4300	6501	SO:0001583	missense	0	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1748C>A	9.37:g.130578326G>T	ENSP00000362299:p.Thr583Lys		Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	pfam_ZP_dom	p.T583K	ENST00000373203.4	37	c.1748	CCDS48029.1	9	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480468	0.26598	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.43294	0.95;1.54	3.85	2.91	0.33838	.	2.043350	0.02268	N	0.068198	T	0.25827	0.0629	N	0.08118	0	0.26221	N	0.979154	B;B	0.33694	0.421;0.421	B;B	0.26969	0.075;0.075	T	0.28618	-1.0038	10	0.52906	T	0.07	7.5719	8.7278	0.34480	0.1186:0.0:0.8814:0.0	.	583;583	Q5T9B9;P17813	.;EGLN_HUMAN	K	583;583;583;401	ENSP00000362299:T583K;ENSP00000341917:T583K	ENSP00000341917:T583K	T	-	2	0	ENG	129618147	0.990000	0.36364	0.336000	0.25522	0.879000	0.50718	2.173000	0.42472	0.873000	0.35799	0.462000	0.41574	ACA	ENG	-	NULL	ENSG00000106991		0.632	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENG	HGNC	protein_coding	OTTHUMT00000054313.1		0	64	0	G			130578326	-1			no_errors	ENST00000373203	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.895	T	T	130578326	G	T	130578326	3	4	178	1	0	0	0	0	1	0	0	0	5133	1377	48	3	262	3	ENG	9	130578326	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	7790	130578326	10635105	115	44318											
POMT1	10585	genome.wustl.edu	37	chr9	134386739	134386739	+	Missense_Mutation	SNP	A	A	G	1	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	ctcagggaggactagctcggAtcactcagggtcagccactg	9	7	13	12	1	4	0	4	0	0	0	5	3	4	3	1	4	2	1	1	4	1	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:134386739A>G	ENST00000372228.3	+	10	1116	c.937A>G	c.(937-939)Atc>Gtc	p.I313V	POMT1_ENST00000404875.2_Missense_Mutation_p.I174V|POMT1_ENST00000541219.1_Missense_Mutation_p.I69V|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000423007.1_Missense_Mutation_p.I291V|POMT1_ENST00000354713.4_Missense_Mutation_p.I261V|POMT1_ENST00000419118.2_Missense_Mutation_p.I139V|POMT1_ENST00000402686.3_Missense_Mutation_p.I291V|POMT1_ENST00000341012.7_Missense_Mutation_p.I237V	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	313					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)		ACTAGCTCGGATCACTCAGGG	0.562																																																	0													116	104	108					9																	134386739		2203	4300	6503	SO:0001583	missense	0			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.937A>G	9.37:g.134386739A>G	ENSP00000361302:p.Ile313Val		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	p.I313V	ENST00000372228.3	37	c.937	CCDS6943.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.99|13.99	2.400739|2.400739	0.42613|0.42613	.|.	.|.	ENSG00000130714|ENSG00000130714	ENST00000372221;ENST00000415075|ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713	D|D;D;D;T;D;D;T;T;D	0.91686|0.81821	-2.89|-1.52;-1.52;-1.52;-0.98;-1.51;-1.52;-1.37;-1.47;-1.54	5.13|5.13	2.77|2.77	0.32553|0.32553	.|.	.|0.048785	.|0.85682	.|N	.|0.000000	T|T	0.72851|0.72851	0.3512|0.3512	L|L	0.49640|0.49640	1.575|1.575	0.58432|0.58432	D|D	0.999996|0.999996	.|B;B;B;B;B	.|0.20887	.|0.001;0.016;0.028;0.049;0.027	.|B;B;B;B;B	.|0.26693	.|0.009;0.072;0.032;0.024;0.044	T|T	0.61676|0.61676	-0.7014|-0.7014	7|10	0.02654|0.26408	T|T	1|0.33	-17.5722|-17.5722	8.605|8.605	0.33767|0.33767	0.8398:0.0:0.1602:0.0|0.8398:0.0:0.1602:0.0	.|.	.|16;261;69;313;291	.|B4DU61;B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.|.;.;.;POMT1_HUMAN;.	G|V	88|291;174;237;196;313;291;139;69;261	ENSP00000405149:D88G|ENSP00000404119:I291V;ENSP00000384531:I174V;ENSP00000343034:I237V;ENSP00000395060:I196V;ENSP00000361302:I313V;ENSP00000385797:I291V;ENSP00000403032:I139V;ENSP00000440895:I69V;ENSP00000346748:I261V	ENSP00000361295:D88G|ENSP00000343034:I237V	D|I	+|+	2|1	0|0	POMT1|POMT1	133376560|133376560	0.999000|0.999000	0.42202|0.42202	0.883000|0.883000	0.34634|0.34634	0.808000|0.808000	0.45660|0.45660	3.913000|3.913000	0.56394|0.56394	0.289000|0.289000	0.22422|0.22422	0.460000|0.460000	0.39030|0.39030	GAT|ATC	POMT1	-	NULL	ENSG00000130714		0.562	POMT1-001	KNOWN	basic|CCDS	protein_coding	POMT1	HGNC	protein_coding	OTTHUMT00000054737.1		0	64	0	A	NM_007171		134386739	1			no_errors	ENST00000372228	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.999	G	G	134386739	A	G	134386739	3	3	178	1	0	0	0	0	1	0	0	0	12284	333	12	4	971	4	POMT1	9	134386739	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	3808413	134386739	6826692	116	44319											
SURF2	6835	genome.wustl.edu	37	chr9	136227218	136227218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actttttgacagacaaagagGatgagaaggcaaagccccca	16	6	10	9	0	0	4	0	2	0	3	0	6	0	5	2	2	1	1	2	2	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr9:136227218G>T	ENST00000371964.4	+	5	636	c.595G>T	c.(595-597)Gat>Tat	p.D199Y		NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	199						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGACAAAGAGGATGAGAAGGC	0.562																																																	0													140	127	131					9																	136227218		2203	4300	6503	SO:0001583	missense	0				CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"surfeit locus protein 2"	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.595G>T	9.37:g.136227218G>T	ENSP00000361032:p.Asp199Tyr		Q6IBP9|Q96CD1	Missense_Mutation	SNP	pfam_Surf2	p.D199Y	ENST00000371964.4	37	c.595	CCDS6967.1	9	.	.	.	.	.	.	.	.	.	.	g	15.75	2.927026	0.52759	.	.	ENSG00000148291	ENST00000371964	T	0.38560	1.13	4.04	3.14	0.36123	.	0.344691	0.29940	N	0.010807	T	0.53658	0.1810	M	0.75447	2.3	0.22745	N	0.998787	P	0.48589	0.912	P	0.53988	0.739	T	0.48139	-0.9061	10	0.87932	D	0	-8.7091	9.4759	0.38871	0.1031:0.0:0.8969:0.0	.	199	Q15527	SURF2_HUMAN	Y	199	ENSP00000361032:D199Y	ENSP00000361032:D199Y	D	+	1	0	SURF2	135217039	0.999000	0.42202	0.003000	0.11579	0.005000	0.04900	2.539000	0.45718	0.986000	0.38683	0.457000	0.33378	GAT	SURF2	-	pfam_Surf2	ENSG00000148291		0.562	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF2	HGNC	protein_coding	OTTHUMT00000054883.1		0	67	0	G	NM_017503		136227218	1			no_errors	ENST00000371964	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.319	T	T	136227218	G	T	136227218	3	4	178	1	0	0	0	0	1	0	0	0	15451	1174	41	3	613	3	SURF2	9	136227218	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	1840479	136227218	4986213	117	44320											
PITRM1	10531	genome.wustl.edu	37	chr10	3208472	3208472	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggttcaacattttgaagaAagggtctctgcacggatatt	11	12	10	8	2	2	2	1	1	1	1	3	3	2	3	1	3	2	2	1	3	4	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:3208472A>G	ENST00000224949.4	-	4	401	c.367T>C	c.(367-369)Ttc>Ctc	p.F123L	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.F91L|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.F123L			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	123					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						ATTTTGAAGAAAGGGTCTCTG	0.498																																																	0													198	196	196					10																	3208472		1944	4143	6087	SO:0001583	missense	0			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.367T>C	10.37:g.3208472A>G	ENSP00000224949:p.Phe123Leu		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	p.F123L	ENST00000224949.4	37	c.367	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	a	26.9	4.785309	0.90282	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.13901	2.55;2.55;2.55	5.55	5.55	0.83447	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.086497	0.85682	D	0.000000	T	0.35307	0.0927	M	0.69185	2.1	0.80722	D	1	D;D;D;D;P;D	0.60575	0.987;0.988;0.979;0.974;0.873;0.986	P;D;P;P;P;P	0.65684	0.84;0.937;0.891;0.802;0.802;0.802	T	0.07712	-1.0758	10	0.87932	D	0	.	15.7592	0.78063	1.0:0.0:0.0:0.0	.	116;91;123;123;123;116	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	L	123;116;123;91	ENSP00000224949:F123L;ENSP00000370377:F123L;ENSP00000401201:F91L	ENSP00000224949:F123L	F	-	1	0	PITRM1	3198472	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	8.664000	0.91139	2.128000	0.65567	0.374000	0.22700	TTC	PITRM1	-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	ENSG00000107959		0.498	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	-	0	80	0	A			3208472	-1	tier1	-	no_errors	ENST00000380989	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	G	G	3208472	A	G	3208472	3	3	178	1	0	0	0	0	1	0	0	0	11992	14	1	4	2842	4	PITRM1	10	3208472	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09		3208472	132326275	118	44321											
CDNF	51182	genome.wustl.edu	37	chr10	14879874	14879874	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccggcctcctggccctgCgtcagcaccgggtgagagac	5	5	13	18	3	1	2	1	1	0	1	2	3	2	2	6	3	2	1	6	3	0	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:14879874C>T	ENST00000378372.3	+	0	0				CDNF_ENST00000378442.1_Intron|HSPA14_ENST00000437161.2_5'Flank|CDNF_ENST00000378441.2_5'UTR	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14						'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						CCTGGCCCTGCGTCAGCACCG	0.701																																																	0													12	17	16					10																	14879874		2189	4289	6478	SO:0001631	upstream_gene_variant	0			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		10.37:g.14879874C>T	Exception_encountered		A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Silent	SNP	pfam_Armet_prot	p.T24	ENST00000378372.3	37	c.72	CCDS7103.1	10																																																																																			CDNF	-	NULL	ENSG00000185267		0.701	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDNF	HGNC	protein_coding	OTTHUMT00000046910.1		0	48	0	C	NM_016299		14879874	-1			no_errors	ENST00000465530	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.000	T	T	14879874	C	T	14879874	1	4	178	0	1	0	0	0	0	0	0	0	3175	755	27	1		1	CDNF	10	14879874	5'Flank	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	11671402	14879874	120654873	119	44322											
PTCHD3	374308	genome.wustl.edu	37	chr10	27692206	27692206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaatgtgcaacagcaggCcaaagccgctcaccactgcc	11	4	8	18	1	1	0	1	0	0	0	1	0	1	0	6	1	5	3	6	1	3	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:27692206C>T	ENST00000438700.3	-	3	1409	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	431	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAACAGCAGGCCAAAGCCGCT	0.458																																																	0													132	124	127					10																	27692206		2203	4300	6503	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1292G>A	10.37:g.27692206C>T	ENSP00000417658:p.Gly431Asp		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.G431D	ENST00000438700.3	37	c.1292	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244895	0.79912	.	.	ENSG00000182077	ENST00000438700	D	0.97378	-4.36	4.09	4.09	0.47781	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.98448	0.9483	M	0.84948	2.725	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99701	1.1004	10	0.87932	D	0	-21.5917	16.4764	0.84133	0.0:1.0:0.0:0.0	.	431	Q3KNS1	PTHD3_HUMAN	D	431	ENSP00000417658:G431D	ENSP00000417658:G431D	G	-	2	0	PTCHD3	27732212	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	5.776000	0.68924	2.118000	0.64928	0.561000	0.74099	GGC	PTCHD3	-	pfam_Patched,pfscan_SSD	ENSG00000182077		0.458	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	-	0	68	0	C	XM_370541		27692206	-1	tier1	-	no_errors	ENST00000438700	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	27692206	C	T	27692206	3	4	178	1	0	0	0	0	1	0	0	0	12776	739	26	3	1019	3	PTCHD3	10	27692206	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	12812332	27692206	107842541	120	44323											
TMEM26	219623	genome.wustl.edu	37	chr10	63188874	63188874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaaactttctcacataCtgtagataagttattcacaa	14	14	4	9	0	2	1	2	0	1	1	4	1	3	1	1	0	2	2	1	0	6	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:63188874C>T	ENST00000399298.3	-	4	783	c.415G>A	c.(415-417)Gta>Ata	p.V139I	TMEM26_ENST00000399293.1_Missense_Mutation_p.V139I	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	139						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)					TTCTCACATACTGTAGATAAG	0.408																																																	0													84	80	81					10																	63188874		1871	4087	5958	SO:0001583	missense	0			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.415G>A	10.37:g.63188874C>T	ENSP00000382237:p.Val139Ile		Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	pfam_Transmembrane_26	p.V139I	ENST00000399298.3	37	c.415	CCDS41530.1	10	.	.	.	.	.	.	.	.	.	.	C	9.565	1.119522	0.20877	.	.	ENSG00000196932	ENST00000399298;ENST00000277749;ENST00000399293	.	.	.	5.73	3.8	0.43715	.	0.377447	0.29508	N	0.011959	T	0.25382	0.0617	N	0.04260	-0.245	0.40193	D	0.977424	B	0.19200	0.034	B	0.19666	0.026	T	0.07290	-1.0780	9	0.18710	T	0.47	-37.8374	6.4152	0.21712	0.0:0.6425:0.1375:0.22	.	139	Q6ZUK4	TMM26_HUMAN	I	139;49;139	.	ENSP00000277749:V49I	V	-	1	0	TMEM26	62858880	0.971000	0.33674	0.912000	0.35992	0.830000	0.47004	1.849000	0.39318	1.422000	0.47177	0.591000	0.81541	GTA	TMEM26	-	pfam_Transmembrane_26	ENSG00000196932		0.408	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM26	HGNC	protein_coding	OTTHUMT00000359121.1	-	0	49	0	C	NM_178505		63188874	-1	tier1	-	no_errors	ENST00000399298	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.824	T	T	63188874	C	T	63188874	3	4	178	1	0	0	0	0	1	0	0	0	16198	565	20	3	703	3	TMEM26	10	63188874	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	35496668	63188874	72345873	121	44324											
CTNNA3	29119	genome.wustl.edu	37	chr10	68280473	68280473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacgcttgtacatttccatgGtgtttttgaccgcttgactt	6	18	8	9	2	0	2	0	2	0	0	1	2	1	2	2	1	2	4	2	1	2	8			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:68280473G>T	ENST00000433211.2	-	11	1607	c.1433C>A	c.(1432-1434)aCc>aAc	p.T478N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.T478N	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.T478N(2)		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						CATTTCCATGGTGTTTTTGAC	0.388																																																	2	Substitution - Missense(2)	lung(2)											188	160	170					10																	68280473		2203	4300	6503	SO:0001583	missense	0			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.1433C>A	10.37:g.68280473G>T	ENSP00000389714:p.Thr478Asn			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.T478N	ENST00000433211.2	37	c.1433	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	2.922	-0.223013	0.06061	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.25579	1.79;1.79	5.43	3.22	0.36961	.	0.216990	0.32068	N	0.006637	T	0.03915	0.0110	N	0.00053	-2.39	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.42766	-0.9432	10	0.02654	T	1	-11.0579	12.1047	0.53805	0.0:0.0:0.6436:0.3564	.	478;478	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	N	478	ENSP00000389714:T478N;ENSP00000362849:T478N	ENSP00000362849:T478N	T	-	2	0	CTNNA3	67950479	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.168000	0.50801	1.371000	0.46172	0.650000	0.86243	ACC	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000183230		0.388	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2		0	47	0	G	NM_013266		68280473	-1			no_errors	ENST00000373744	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	68280473	G	T	68280473	3	4	178	1	0	0	0	0	1	0	0	0	4023	1261	44	3	1286	3	CTNNA3	10	68280473	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	5091599	68280473	67254274	122	44325											
KIAA0913	23053	genome.wustl.edu	37	chr10	75548436	75548436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtttgcaaagatggactgGtgatcccattggtggagctg	8	13	14	6	0	0	2	0	1	0	1	1	4	1	4	1	4	2	3	1	4	1	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:75548436G>T	ENST00000605216.1	+	2	434	c.217G>T	c.(217-219)Gtg>Ttg	p.V73L	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.V73L|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.V73L|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.V73L|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.V73L	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	73							zinc ion binding (GO:0008270)										AGATGGACTGGTGATCCCATT	0.493																																																	0													77	73	74					10																	75548436		1976	4163	6139	SO:0001583	missense	0			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.217G>T	10.37:g.75548436G>T	ENSP00000474748:p.Val73Leu		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.V73L	ENST00000605216.1	37	c.217		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.197291|4.197291	0.79015|0.79015	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000446546	T|.	0.48836|.	0.8|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|.	.|.	.|.	.|.	T|T	0.59729|0.59729	0.2215|0.2215	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	D;D;D|.	0.61697|.	0.99;0.99;0.99|.	D;D;D|.	0.73380|.	0.971;0.98;0.971|.	T|T	0.51616|0.51616	-0.8683|-0.8683	9|5	0.56958|.	D|.	0.05|.	.|.	20.1865|20.1865	0.98220|0.98220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	73;73;73|.	A7E2V4;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.|.	L|C	73|157	ENSP00000381693:V73L|.	ENSP00000381693:V73L|.	V|W	+|+	1|3	0|0	KIAA0913|KIAA0913	75218442|75218442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.625000|9.625000	0.98406|0.98406	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	GTG|TGG	ZSWIM8	-	NULL	ENSG00000214655		0.493	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1		0	75	0	G	NM_001242487		75548436	1			no_errors	ENST00000398706	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	75548436	G	T	75548436	3	4	178	1	0	0	0	0	1	0	0	0	8227	1261	44	3	223	3	KIAA0913	10	75548436	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	7267963	75548436	59986311	123	44326											
CEP55	55165	genome.wustl.edu	37	chr10	95263009	95263009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaacagctggaagagacaaCgagagaaggagaaaggaggg	18	2	17	4	1	0	4	0	1	0	3	0	10	0	6	0	4	3	1	0	4	5	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:95263009C>T	ENST00000371485.3	+	3	627	c.323C>T	c.(322-324)aCg>aTg	p.T108M		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	108					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GAAGAGACAACGAGAGAAGGA	0.443																																																	0													170	151	158					10																	95263009		2203	4300	6503	SO:0001583	missense	0			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"cancer/testis antigen 111"	610000	"chromosome 10 open reading frame 3"	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.323C>T	10.37:g.95263009C>T	ENSP00000360540:p.Thr108Met		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	pfam_EABR	p.T108M	ENST00000371485.3	37	c.323	CCDS7428.1	10	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551955	0.27739	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.19938	2.11	5.36	3.51	0.40186	.	0.357028	0.32287	N	0.006302	T	0.20700	0.0498	L	0.50333	1.59	0.28802	N	0.898731	D	0.56287	0.975	B	0.43809	0.432	T	0.07102	-1.0790	10	0.45353	T	0.12	-14.9887	9.8313	0.40944	0.0:0.7867:0.1386:0.0747	.	108	Q53EZ4	CEP55_HUMAN	M	108	ENSP00000360540:T108M	ENSP00000351102:T108M	T	+	2	0	CEP55	95252999	0.650000	0.27331	0.715000	0.30552	0.000000	0.00434	0.955000	0.29188	0.749000	0.32854	-0.796000	0.03273	ACG	CEP55	-	NULL	ENSG00000138180		0.443	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP55	HGNC	protein_coding	OTTHUMT00000049434.1		0	70	0	C	NM_018131		95263009	1			no_errors	ENST00000371485	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.875	T	T	95263009	C	T	95263009	3	4	178	1	0	0	0	0	1	0	0	0	3262	536	19	1	329	1	CEP55	10	95263009	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	19714573	95263009	40271738	124	44327											
GBF1	8729	genome.wustl.edu	37	chr10	104119146	104119146	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtccatgacatggattaCgtcaatccccggggcgtgcg	7	10	12	12	4	2	1	1	1	1	0	4	2	4	2	3	3	2	0	3	3	2	1	rs567964819		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:104119146C>T	ENST00000369983.3	+	11	1391	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	GBF1_ENST00000476019.1_3'UTR	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	377					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)		ACATGGATTACGTCAATCCCC	0.557													C|||	1	0.000199681	0	0	5008	,	,		20977	0.001		0	False		,,,				2504	0																0													164	125	139					10																	104119146		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1131C>T	10.37:g.104119146C>T			Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.Y377	ENST00000369983.3	37	c.1131	CCDS7533.1	10																																																																																			GBF1	-	superfamily_ARM-type_fold	ENSG00000107862		0.557	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	-	0	72	0	C			104119146	1	tier1	-	no_errors	ENST00000369983	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.741	T	T	104119146	C	T	104119146	2	4	178	1	0	0	0	0	0	0	0	1	6296	547	19	1		1	GBF1	10	104119146	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	8856137	104119146	31415601	125	44328											
ATRNL1	26033	genome.wustl.edu	37	chr10	117024684	117024684	+	Frame_Shift_Del	DEL	A	A	-																															ttctagcttgtgatgaatggAaaatactaccaaaaccaaat																										TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr10:117024684delA	ENST00000355044.3	+	11	1828	c.1702delA	c.(1702-1704)aaafs	p.K568fs		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	568					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)		TGATGAATGGAAAATACTACC	0.299																																																	0													91	95	94					10																	117024684		2203	4297	6500	SO:0001589	frameshift_variant	0			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.1702delA	10.37:g.117024684delA	ENSP00000347152:p.Lys568fs		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.I569fs	ENST00000355044.3	37	c.1702	CCDS7592.1	10																																																																																			ATRNL1	-	NULL	ENSG00000107518		0.299	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3		0	43	0	A	XM_049349		117024684	1	tier1		no_errors	ENST00000355044	ensembl	human	known	74_37	frame_shift_del	8.33	33	3	DEL	1.000	-	-	117024684	A	-	117024684	7	5	178	1	0	1	0	1	0	0	0	0	1208	247	9	0	1744	0	ATRNL1	10	117024684	Frame_Shift_Del	DEL	A	TCGA-XP-A8T6-01A-11D-A36J-09	12905538	117024684	18510063	126	44329											
OR51A4	401666	genome.wustl.edu	37	chr11	4967979	4967979	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctatcaaatgacatgatcaGgaggactgaggactccagta	14	9	10	8	0	3	3	2	3	1	0	4	6	4	6	1	3	0	1	1	3	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:4967979G>A	ENST00000380373.2	-	1	377	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACATGATCAGGAGGACTGAG	0.443																																																	0													204	203	203					11																	4967979		2191	4288	6479	SO:0001819	synonymous_variant	0			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.352C>T	11.37:g.4967979G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L118	ENST00000380373.2	37	c.352	CCDS31367.1	11																																																																																			OR51A4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000205497		0.443	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A4	HGNC	protein_coding	OTTHUMT00000142821.1		0	58	0	G	NM_001005329		4967979	-1			no_errors	ENST00000380373	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.000	A	A	4967979	G	A	4967979	2	1	178	1	0	0	0	0	0	0	0	1	11126	991	35	3		3	OR51A4	11	4967979	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09		4967979	130038537	127	44330											
UBQLNL	143630	genome.wustl.edu	37	chr11	5537115	5537115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccacatgaactccatgttgGacagaagccgctggatgcta	11	8	11	11	1	0	2	0	1	0	1	1	4	1	4	3	2	3	3	3	2	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:5537115G>T	ENST00000380184.1	-	1	820	c.557C>A	c.(556-558)tCc>tAc	p.S186Y	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	186										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTCCATGTTGGACAGAAGCCG	0.483																																																	0													110	110	110					11																	5537115		2201	4297	6498	SO:0001583	missense	0			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.557C>A	11.37:g.5537115G>T	ENSP00000369531:p.Ser186Tyr		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.S186Y	ENST00000380184.1	37	c.557	CCDS31385.1	11	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937712	0.52972	.	.	ENSG00000175518	ENST00000380184	T	0.57273	0.41	4.87	2.97	0.34412	.	0.453258	0.18864	N	0.129022	T	0.66809	0.2827	M	0.82517	2.595	0.31272	N	0.691682	D	0.71674	0.998	P	0.60789	0.879	T	0.69209	-0.5205	10	0.87932	D	0	.	6.5176	0.22256	0.098:0.1826:0.7194:0.0	.	186	Q8IYU4	UBQLN_HUMAN	Y	186	ENSP00000369531:S186Y	ENSP00000369531:S186Y	S	-	2	0	UBQLNL	5493691	1.000000	0.71417	0.189000	0.23252	0.847000	0.48162	2.324000	0.43831	0.614000	0.30107	0.655000	0.94253	TCC	UBQLNL	-	NULL	ENSG00000175518		0.483	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	HGNC	protein_coding	OTTHUMT00000143386.1		0	10	0	G	NM_145053		5537115	-1			no_errors	ENST00000380184	ensembl	human	putative	74_37	missense	30.77	9	4	SNP	1.000	T	T	5537115	G	T	5537115	3	4	178	1	0	0	0	0	1	0	0	0	16949	1174	41	3	874	3	UBQLNL	11	5537115	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	569136	5537115	129469401	128	44331											
ST5	6764	genome.wustl.edu	37	chr11	8719178	8719178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaacaacgtgtcttcgtcGtccatctgcaggagaaagaa	12	9	11	9	3	2	2	0	0	2	2	5	3	3	2	1	2	3	2	1	2	4	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:8719178G>A	ENST00000534127.1	-	20	3331	c.2946C>T	c.(2944-2946)gaC>gaT	p.D982D	ST5_ENST00000526757.1_Silent_p.D562D|ST5_ENST00000534278.1_Silent_p.D173D|ST5_ENST00000313726.6_Silent_p.D982D|ST5_ENST00000357665.1_Silent_p.D982D|ST5_ENST00000530438.1_Silent_p.D562D|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Silent_p.D454D|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Silent_p.D495D	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	982					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D982D(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGTCTTCGTCGTCCATCTGCA	0.493																																																	1	Substitution - coding silent(1)	large_intestine(1)											116	89	98					11																	8719178		2201	4296	6497	SO:0001819	synonymous_variant	0			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2946C>T	11.37:g.8719178G>A			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D982	ENST00000534127.1	37	c.2946	CCDS7791.1	11																																																																																			ST5	-	NULL	ENSG00000166444		0.493	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1		0	43	0	G	NM_005418		8719178	-1			no_errors	ENST00000313726	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.995	A	A	8719178	G	A	8719178	2	1	178	1	0	0	0	0	0	0	0	1	15267	1136	40	1		1	ST5	11	8719178	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	3182063	8719178	126287338	129	44332											
DNAJC24	341019	genome.wustl.edu	37	chr11	31392319	31392319	+	5'Flank	DEL	A	A	-																															atggcggttgagcagatgccAaaaaaggattggtacagcat																								rs191061102	byFrequency	TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:31392319delA	ENST00000452803.1	-	0	0				DNAJC24_ENST00000536040.1_Frame_Shift_Del_p.P7fs|DNAJC24_ENST00000527601.1_3'UTR|DNAJC24_ENST00000465995.1_Frame_Shift_Del_p.P8fs	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGCAGATGCCAAAAAAGGATT	0.383																																																	0													72	69	70					11																	31392319		1855	4088	5943	SO:0001631	upstream_gene_variant	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144		11.37:g.31392319delA	Exception_encountered		A6PVL6|B7WNX6|Q6ZU04	Frame_Shift_Del	DEL	pfam_DnaJ_domain,pfam_Znf_DHP,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_Znf_DHP,pfscan_DnaJ_domain,prints_DnaJ_domain	p.K10fs	ENST00000452803.1	37	c.24	CCDS7872.1	11																																																																																			DNAJC24	-	superfamily_DnaJ_domain,smart_DnaJ_domain	ENSG00000170946		0.383	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC24	HGNC	protein_coding	OTTHUMT00000316531.1		0	50	0	A	NM_181807		31392319	1	tier1		no_errors	ENST00000465995	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	0.000	-	-	31392319	A	-	31392319	6	5	178	0	1	1	0	1	0	0	0	0	4656	117	5	0		0	DNAJC24	11	31392319	5'Flank	DEL	A	TCGA-XP-A8T6-01A-11D-A36J-09	22673141	31392319	103614197	130	44333											
RAG1	5896	genome.wustl.edu	37	chr11	36596040	36596040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaataaagggggccggcccCgccaacatcttctgtcgctg	8	9	11	13	3	2	0	0	0	2	0	3	0	2	0	4	3	1	1	4	3	4	3	rs104894289		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:36596040C>T	ENST00000299440.5	+	2	1298	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	396			R -> C (in OS; dbSNP:rs104894289). {ECO:0000269|PubMed:10606976, ECO:0000269|PubMed:9630231}.|R -> H (in OS; dbSNP:rs104894291). {ECO:0000269|PubMed:19912631, ECO:0000269|PubMed:9630231}.|R -> L (in OS; dbSNP:rs104894291). {ECO:0000269|PubMed:11133745}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGGCCGGCCCCGCCAACATCT	0.483									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												0			GRCh37	CM981692	RAG1	M	rs104894289						40	47	45					11																	36596040		2202	4298	6500	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1186C>T	11.37:g.36596040C>T	ENSP00000299440:p.Arg396Cys		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.R396C	ENST00000299440.5	37	c.1186	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075138	0.55646	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73789	-0.78;-0.78	5.64	5.64	0.86602	RAG nonamer-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.85750	0.5769	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.87100	0.2178	10	0.87932	D	0	.	12.805	0.57607	0.2723:0.7277:0.0:0.0	.	396	P15918	RAG1_HUMAN	C	396	ENSP00000434610:R396C;ENSP00000299440:R396C	ENSP00000299440:R396C	R	+	1	0	RAG1	36552616	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.638000	0.61353	2.684000	0.91462	0.650000	0.86243	CGC	RAG1	-	NULL	ENSG00000166349		0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	-	0	47	0	C	NM_000448		36596040	1	tier1	rs104894289	no_errors	ENST00000299440	ensembl	human	known	74_37	missense	21.95	32	9	SNP	1.000	T	T	36596040	C	T	36596040	3	4	178	1	0	0	0	0	1	0	0	0	13048	652	23	1	1188	1	RAG1	11	36596040	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	5203721	36596040	98410476	131	44334											
OR5T2	219464	genome.wustl.edu	37	chr11	56000005	56000005	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagcaaggagaggagggatAtcacaaaagacacgcctaat	18	5	11	7	1	1	2	1	0	0	2	1	5	1	4	1	3	1	1	1	3	6	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:56000005A>G	ENST00000313264.4	-	1	732	c.657T>C	c.(655-657)gaT>gaC	p.D219D		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	219						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(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAGGAGGGATATCACAAAAGA	0.428																																																	0													166	150	156					11																	56000005		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.657T>C	11.37:g.56000005A>G			B9EGX5|Q6IFC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D219	ENST00000313264.4	37	c.657	CCDS31523.1	11																																																																																			OR5T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181718		0.428	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	-	0	80	0	A	NM_001004746		56000005	-1	tier1	-	no_errors	ENST00000313264	ensembl	human	known	74_37	silent	8.57	64	6	SNP	0.018	G	G	56000005	A	G	56000005	2	3	178	1	0	0	0	0	0	0	0	1	11221	446	16	4		4	OR5T2	11	56000005	Silent	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	19403965	56000005	79006511	132	44335											
MS4A6E	245802	genome.wustl.edu	37	chr11	60105265	60105265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgctctgtctgccctggtgGgtttcattctcctgtctgtc	1	17	11	12	0	5	0	1	0	4	0	7	0	5	0	2	2	2	2	2	2	0	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:60105265G>A	ENST00000300182.4	+	2	264	c.199G>A	c.(199-201)Ggt>Agt	p.G67S		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	67						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TGCCCTGGTGGGTTTCATTCT	0.483																																																	0													172	157	162					11																	60105265		2203	4300	6503	SO:0001583	missense	0			AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.199G>A	11.37:g.60105265G>A	ENSP00000300182:p.Gly67Ser		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	pfam_CD20-like	p.G67S	ENST00000300182.4	37	c.199	CCDS7984.1	11	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340771	0.41498	.	.	ENSG00000166926	ENST00000300182	T	0.04275	3.66	2.03	1.01	0.19927	.	0.615310	0.16138	N	0.227850	T	0.15825	0.0381	M	0.76170	2.325	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.04495	-1.0947	10	0.87932	D	0	.	5.5525	0.17099	0.0:0.0:0.6749:0.3251	.	67	Q96DS6	M4A6E_HUMAN	S	67	ENSP00000300182:G67S	ENSP00000300182:G67S	G	+	1	0	MS4A6E	59861841	0.613000	0.27009	0.017000	0.16124	0.067000	0.16453	1.435000	0.34969	0.148000	0.19059	0.195000	0.17529	GGT	MS4A6E	-	pfam_CD20-like	ENSG00000166926		0.483	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6E	HGNC	protein_coding	OTTHUMT00000394296.1	-	0	100	0	G			60105265	1	tier1	-	no_errors	ENST00000300182	ensembl	human	known	74_37	missense	27.36	77	29	SNP	0.005	A	A	60105265	G	A	60105265	3	1	178	1	0	0	0	0	1	0	0	0	9903	1232	43	3	205	3	MS4A6E	11	60105265	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	4105260	60105265	74901251	133	44336											
MS4A14	84689	genome.wustl.edu	37	chr11	60183805	60183805	+	Missense_Mutation	SNP	T	T	C	0	1	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	aaaccagcaaattttacaaaTgtcatatcaagatattagat	19	12	4	6	0	2	2	2	0	0	2	2	2	2	2	1	0	3	1	1	0	8	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:60183805T>C	ENST00000300187.6	+	5	1641	c.1364T>C	c.(1363-1365)aTg>aCg	p.M455T	MS4A14_ENST00000531783.1_Missense_Mutation_p.M488T|MS4A14_ENST00000531787.1_Missense_Mutation_p.M343T|MS4A14_ENST00000395005.2_Missense_Mutation_p.M438T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	455	Gln-rich.					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						ATTTTACAAATGTCATATCAA	0.398																																																	0													62	64	63					11																	60183805		2203	4299	6502	SO:0001583	missense	0			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.1364T>C	11.37:g.60183805T>C	ENSP00000300187:p.Met455Thr		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.M455T	ENST00000300187.6	37	c.1364	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	T	3.469	-0.108342	0.06924	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.31769	1.48;2.7;1.49;3.06	4.13	0.0425	0.14217	.	3.834450	0.01040	N	0.004295	T	0.21307	0.0513	L	0.36672	1.1	0.09310	N	1	B;B	0.22683	0.073;0.044	B;B	0.21360	0.034;0.015	T	0.07616	-1.0763	10	0.18276	T	0.48	0.1409	0.981	0.01436	0.192:0.1103:0.1984:0.4993	.	438;455	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	T	343;455;438;488	ENSP00000437222:M343T;ENSP00000300187:M455T;ENSP00000378453:M438T;ENSP00000433761:M488T	ENSP00000300187:M455T	M	+	2	0	MS4A14	59940381	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.568000	0.23623	0.203000	0.20529	-0.344000	0.07964	ATG	MS4A14	-	NULL	ENSG00000166928		0.398	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	-	0	58	0	T			60183805	1	tier1	-	no_errors	ENST00000300187	ensembl	human	known	74_37	missense	28.26	33	13	SNP	0.000	C	C	60183805	T	C	60183805	3	2	178	1	0	0	0	0	1	0	0	0	9896	1464	51	4	1382	4	MS4A14	11	60183805	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	78540	60183805	74822711	134	44337											
ZP1	22917	genome.wustl.edu	37	chr11	60640738	60640738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacccagcccggccccctgCggcttgagctgcggattgcc	4	7	13	17	3	0	2	0	2	0	0	0	3	0	3	5	3	5	2	5	3	0	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:60640738C>T	ENST00000278853.5	+	7	1216	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	406	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGGCCCCCTGCGGCTTGAGCT	0.602																																																	0													98	96	97					11																	60640738		2203	4299	6502	SO:0001583	missense	0			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"Zona pellucida glycoproteins"	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1216C>T	11.37:g.60640738C>T	ENSP00000278853:p.Arg406Trp			Missense_Mutation	SNP	pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.R406W	ENST00000278853.5	37	c.1216	CCDS31572.1	11	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594734	0.28445	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	D	0.83591	-1.74	4.83	-2.5	0.06384	Zona pellucida sperm-binding protein (3);	0.183156	0.42964	D	0.000627	D	0.86322	0.5905	M	0.80616	2.505	0.29034	N	0.885503	D	0.76494	0.999	D	0.70716	0.97	T	0.78568	-0.2154	10	0.62326	D	0.03	-16.9006	2.7033	0.05155	0.4721:0.2733:0.1106:0.144	.	406	P60852	ZP1_HUMAN	W	406;113	ENSP00000278853:R406W	ENSP00000278853:R406W	R	+	1	2	ZP1	60397314	0.000000	0.05858	0.039000	0.18376	0.027000	0.11550	-0.581000	0.05820	-0.926000	0.03770	-0.373000	0.07131	CGG	ZP1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000149506		0.602	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZP1	HGNC	protein_coding	OTTHUMT00000396329.1		0	44	0	C	NM_207341		60640738	1			no_errors	ENST00000278853	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.076	T	T	60640738	C	T	60640738	3	4	178	1	0	0	0	0	1	0	0	0	18263	759	27	1	1242	1	ZP1	11	60640738	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	456933	60640738	74365778	135	44338											
PELI3	246330	genome.wustl.edu	37	chr11	66241210	66241210	+	Silent	SNP	G	G	A	0	0	1	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	tccctcatgtggtcccaggaGcgagcggccaaatggcggac	8	6	14	13	3	1	0	1	0	0	0	3	3	3	2	3	5	2	0	3	5	1	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:66241210G>A	ENST00000320740.7	+	7	814	c.654G>A	c.(652-654)gaG>gaA	p.E218E	CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000524466.1_Silent_p.E218E|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000349459.6_Silent_p.E194E	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	218					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGTCCCAGGAGCGAGCGGCCA	0.647																																																	0													48	49	49					11																	66241210		2200	4295	6495	SO:0001819	synonymous_variant	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.654G>A	11.37:g.66241210G>A			Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	pfam_Pellino_fam	p.E218	ENST00000320740.7	37	c.654	CCDS31615.1	11																																																																																			PELI3	-	pfam_Pellino_fam	ENSG00000174516		0.647	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	-	0	134	0	G	NM_145065		66241210	1	tier1	-	no_errors	ENST00000320740	ensembl	human	known	74_37	silent	16.67	100	20	SNP	1.000	A	A	66241210	G	A	66241210	2	1	178	1	0	0	0	0	0	0	0	1	11762	962	34	3		3	PELI3	11	66241210	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	5600472	66241210	68765306	136	44339											
ANKRD13D	338692	genome.wustl.edu	37	chr11	67068775	67068775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attccccttttccacgtgctCaatgcccgcatcaccttcag	7	12	5	17	2	3	0	3	0	0	0	5	0	5	0	5	0	2	2	5	0	1	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:67068775C>T	ENST00000447274.2	+	12	2168	c.993C>T	c.(991-993)ctC>ctT	p.L331L	SSH3_ENST00000308298.7_5'Flank|ANKRD13D_ENST00000308440.6_Silent_p.L331L|ANKRD13D_ENST00000515828.1_Silent_p.L68L|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000511455.2_Silent_p.L418L|ANKRD13D_ENST00000514166.1_Silent_p.L331L			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	331						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)			TCCACGTGCTCAATGCCCGCA	0.647																																																	0													108	97	101					11																	67068775		2200	4295	6495	SO:0001819	synonymous_variant	0			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.993C>T	11.37:g.67068775C>T			D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Silent	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.L418	ENST00000447274.2	37	c.1254		11																																																																																			ANKRD13D	-	pfam_ANKRD13	ENSG00000172932		0.647	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2	-	0	67	0	C	NM_207354		67068775	1	tier1	-	no_errors	ENST00000511455	ensembl	human	known	74_37	silent	16.07	47	9	SNP	1.000	T	T	67068775	C	T	67068775	2	4	178	1	0	0	0	0	0	0	0	1	644	813	29	3		3	ANKRD13D	11	67068775	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	827565	67068775	67937741	137	44340											
AMOTL1	154810	genome.wustl.edu	37	chr11	94533184	94533184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagaggaatggggccaaGcaacaccttcccggctcggg	9	5	15	12	2	0	1	0	0	0	1	2	3	1	2	3	6	2	2	3	6	3	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:94533184G>T	ENST00000433060.2	+	3	969	c.828G>T	c.(826-828)aaG>aaT	p.K276N	AMOTL1_ENST00000317837.9_Missense_Mutation_p.K276N|AMOTL1_ENST00000317829.8_Missense_Mutation_p.K226N	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	276					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)				ATGGGGCCAAGCAACACCTTC	0.632																																																	0													47	52	50					11																	94533184		2009	4161	6170	SO:0001583	missense	0			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.828G>T	11.37:g.94533184G>T	ENSP00000387739:p.Lys276Asn		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.K276N	ENST00000433060.2	37	c.828	CCDS44712.1	11	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050931	0.55218	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.13901	2.55;2.55;2.55	5.13	4.22	0.49857	.	0.000000	0.64402	D	0.000001	T	0.38532	0.1044	M	0.81497	2.545	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	T	0.26950	-1.0088	9	.	.	.	-41.4742	13.4263	0.61028	0.0762:0.0:0.9238:0.0	.	226;276	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	N	226;282;276;276	ENSP00000320968:K226N;ENSP00000323474:K276N;ENSP00000387739:K276N	.	K	+	3	2	AMOTL1	94172832	1.000000	0.71417	0.814000	0.32528	0.785000	0.44390	2.532000	0.45659	1.168000	0.42723	0.555000	0.69702	AAG	AMOTL1	-	NULL	ENSG00000166025		0.632	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	-	0	88	0	G	NM_130847		94533184	1	tier1	-	no_errors	ENST00000433060	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	94533184	G	T	94533184	3	4	178	1	0	0	0	0	1	0	0	0	583	962	34	3	838	3	AMOTL1	11	94533184	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	27464409	94533184	40473332	138	44341											
C11orf63	79864	genome.wustl.edu	37	chr11	122774866	122774866	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgcagcttctttacttggtaGtgaatttttaagcccaaact	10	16	7	8	0	1	1	0	1	1	0	1	1	1	1	1	1	5	3	1	1	5	8			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr11:122774866G>T	ENST00000531316.1	+	2	670	c.578G>T	c.(577-579)aGt>aTt	p.S193I	C11orf63_ENST00000227349.2_Missense_Mutation_p.S193I|C11orf63_ENST00000307257.6_Missense_Mutation_p.S193I			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	193					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)		TTACTTGGTAGTGAATTTTTA	0.532																																																	0													70	73	72					11																	122774866		2202	4299	6501	SO:0001583	missense	0			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.578G>T	11.37:g.122774866G>T	ENSP00000431669:p.Ser193Ile		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.S193I	ENST00000531316.1	37	c.578	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756384	0.69648	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.55588	0.51;0.51	5.83	5.83	0.93111	.	0.075445	0.56097	D	0.000023	T	0.70509	0.3232	M	0.72118	2.19	0.32401	N	0.551886	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.77621	-0.2519	10	0.72032	D	0.01	-16.9156	13.492	0.61402	0.0:0.1682:0.8318:0.0	.	193;193	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	I	193	ENSP00000227349:S193I;ENSP00000431669:S193I	ENSP00000227349:S193I	S	+	2	0	C11orf63	122280076	1.000000	0.71417	0.967000	0.41034	0.712000	0.41017	3.758000	0.55220	2.753000	0.94483	0.655000	0.94253	AGT	C11orf63	-	NULL	ENSG00000109944		0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	-	0	28	0	G	NM_024806		122774866	1	tier1	-	no_errors	ENST00000227349	ensembl	human	known	74_37	missense	40.00	8	6	SNP	0.995	T	T	122774866	G	T	122774866	3	4	178	1	0	0	0	0	1	0	0	0	1659	1029	36	3	584	3	C11orf63	11	122774866	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	28241682	122774866	12231650	139	44342											
ERC1	23085	genome.wustl.edu	37	chr12	1192560	1192560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtattgagactcaaaagcaGaccctaaatgctcgggatga	14	8	10	9	2	1	3	1	2	0	2	2	5	1	4	1	1	2	3	1	1	5	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:1192560G>T	ENST00000397203.2	+	3	1306	c.900G>T	c.(898-900)caG>caT	p.Q300H	ERC1_ENST00000546231.2_Missense_Mutation_p.Q300H|ERC1_ENST00000360905.4_Missense_Mutation_p.Q300H|ERC1_ENST00000589028.1_Missense_Mutation_p.Q300H|ERC1_ENST00000355446.5_Missense_Mutation_p.Q300H|ERC1_ENST00000543086.3_Missense_Mutation_p.Q300H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	300					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)			CTCAAAAGCAGACCCTAAATG	0.473																																																	0													65	66	66					12																	1192560		2203	4300	6503	SO:0001583	missense	0			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.900G>T	12.37:g.1192560G>T	ENSP00000380386:p.Gln300His		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.Q300H	ENST00000397203.2	37	c.900	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997987	0.35226	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.56	-1.25	0.09405	.	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	L	0.56769	1.78	0.47698	D	0.999498	B;B;B;B	0.22541	0.033;0.001;0.002;0.071	B;B;B;B	0.33690	0.036;0.004;0.003;0.168	T	0.50294	-0.8845	10	0.72032	D	0.01	-18.95	12.7244	0.57162	0.2798:0.0:0.7202:0.0	.	76;300;300;300	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	H	300;300;300;300;300;300;300;300;300;300;76	ENSP00000340054:Q300H;ENSP00000380386:Q300H;ENSP00000438546:Q300H;ENSP00000445336:Q300H;ENSP00000442739:Q300H;ENSP00000347621:Q300H;ENSP00000354158:Q300H;ENSP00000410064:Q300H	ENSP00000340054:Q300H	Q	+	3	2	ERC1	1062821	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	0.640000	0.24705	-0.144000	0.11314	0.655000	0.94253	CAG	ERC1	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000082805		0.473	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2		0	57	0	G	NM_015064		1192560	1			no_errors	ENST00000360905	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.995	T	T	1192560	G	T	1192560	3	4	178	1	0	0	0	0	1	0	0	0	5226	933	33	3	906	3	ERC1	12	1192560	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09		1192560	132659335	140	44343											
ESPL1	9700	genome.wustl.edu	37	chr12	53682998	53682998	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccttgtgcctgggccaccgGgatccttatgccactgcttt	4	12	11	14	1	0	0	0	0	0	0	1	1	1	1	6	2	3	1	6	2	1	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:53682998G>T	ENST00000257934.4	+	21	4924	c.4833G>T	c.(4831-4833)cgG>cgT	p.R1611R	ESPL1_ENST00000552462.1_Silent_p.R1611R	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1611					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)	p.R1611R(1)		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						TGGGCCACCGGGATCCTTATG	0.602																																					Colon(53;1069 1201 2587 5382)												1	Substitution - coding silent(1)	large_intestine(1)											143	136	138					12																	53682998		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4833G>T	12.37:g.53682998G>T				Silent	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.R1611	ENST00000257934.4	37	c.4833	CCDS8852.1	12																																																																																			ESPL1	-	NULL	ENSG00000135476		0.602	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2		0	23	0	G	NM_012291		53682998	1			no_errors	ENST00000257934	ensembl	human	known	74_37	silent	10.53	17	2	SNP	0.995	T	T	53682998	G	T	53682998	2	4	178	1	0	0	0	0	0	0	0	1	5269	1219	43	3		3	ESPL1	12	53682998	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	52490438	53682998	80168897	141	44344											
R3HDM2	22864	genome.wustl.edu	37	chr12	57648738	57648738	+	Missense_Mutation	SNP	T	T	C	0	1	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	gtggcggccattctcagcagTcccactgttgtcccccccac	5	9	9	18	1	1	0	1	0	1	0	4	0	3	0	5	2	1	2	5	2	0	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:57648738T>C	ENST00000347140.3	-	24	3139	c.2749A>G	c.(2749-2751)Act>Gct	p.T917A	R3HDM2_ENST00000358907.2_Missense_Mutation_p.T917A|R3HDM2_ENST00000403821.2_Missense_Mutation_p.T951A|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000402412.1_Missense_Mutation_p.T931A|R3HDM2_ENST00000441731.2_Missense_Mutation_p.T612A			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	917						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						TTCTCAGCAGTCCCACTGTTG	0.622																																																	0													59	53	55					12																	57648738		2203	4300	6503	SO:0001583	missense	0			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.2749A>G	12.37:g.57648738T>C	ENSP00000317903:p.Thr917Ala		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.T917A	ENST00000347140.3	37	c.2749	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	T	14.06	2.421845	0.43020	.	.	ENSG00000179912	ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T	0.41065	1.01;2.02;2.03;2.02;1.02;1.61;2.02	5.32	5.32	0.75619	.	0.322151	0.31268	N	0.007943	T	0.22126	0.0533	N	0.08118	0	0.30403	N	0.77988	B;B;B;B	0.25272	0.043;0.043;0.043;0.122	B;B;B;B	0.22601	0.016;0.016;0.011;0.04	T	0.13361	-1.0512	10	0.23891	T	0.37	-9.7748	10.7904	0.46429	0.0:0.0:0.1587:0.8413	.	951;931;917;644	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	A	644;917;931;917;612;682;951	ENSP00000377400:T644A;ENSP00000317903:T917A;ENSP00000385839:T931A;ENSP00000351784:T917A;ENSP00000408536:T612A;ENSP00000394676:T682A;ENSP00000385169:T951A	ENSP00000317903:T917A	T	-	1	0	R3HDM2	55935005	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	0.368000	0.20399	2.371000	0.80710	0.533000	0.62120	ACT	R3HDM2	-	NULL	ENSG00000179912		0.622	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2	-	0	64	0	T	NM_014925		57648738	-1	tier1	-	no_errors	ENST00000347140	ensembl	human	known	74_37	missense	42.55	27	20	SNP	1.000	C	C	57648738	T	C	57648738	3	2	178	1	0	0	0	0	1	0	0	0	12933	1667	58	4	185	4	R3HDM2	12	57648738	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	3965740	57648738	76203157	142	44345											
GLI1	2735	genome.wustl.edu	37	chr12	57865571	57865571	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtggtcatcctgaggtGggcaggctaggagggggtcc	6	8	19	8	0	1	1	1	1	0	0	3	2	3	2	2	7	1	3	2	7	1	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:57865571G>A	ENST00000228682.2	+	12	3139	c.3048G>A	c.(3046-3048)gtG>gtA	p.V1016V	GLI1_ENST00000546141.1_Silent_p.V975V|GLI1_ENST00000543426.1_Silent_p.V888V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1016					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)			ATCCTGAGGTGGGCAGGCTAG	0.582																																					Pancreas(157;841 1936 10503 41495 50368)												0													114	105	108					12																	57865571		2203	4300	6503	SO:0001819	synonymous_variant	0				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.3048G>A	12.37:g.57865571G>A			D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V1016	ENST00000228682.2	37	c.3048	CCDS8940.1	12																																																																																			GLI1	-	NULL	ENSG00000111087		0.582	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1		0	37	0	G	NM_005269		57865571	1			no_errors	ENST00000228682	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.994	A	A	57865571	G	A	57865571	2	1	178	1	0	0	0	0	0	0	0	1	6463	1335	47	3		3	GLI1	12	57865571	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	216833	57865571	75986324	143	44346											
MARCH9	92979	genome.wustl.edu	37	chr12	58150746	58150746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctgccgctgcgacggctCagtgcgctgcacgcatcagc	5	6	12	18	5	2	0	2	0	0	0	2	1	2	0	3	1	5	5	3	1	0	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:58150746C>T	ENST00000266643.5	+	2	823	c.392C>T	c.(391-393)tCa>tTa	p.S131L	MARCH9_ENST00000548358.1_5'Flank	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	131					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)			TGCGACGGCTCAGTGCGCTGC	0.662											OREG0021952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													21	19	19					12																	58150746		2201	4300	6501	SO:0001583	missense	0			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.392C>T	12.37:g.58150746C>T	ENSP00000266643:p.Ser131Leu	1028	B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S131L	ENST00000266643.5	37	c.392	CCDS31847.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.578988	0.96565	.	.	ENSG00000139266	ENST00000266643	T	0.50813	0.73	5.01	5.01	0.66863	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	H	0.97214	3.96	0.80722	D	1	D	0.60160	0.987	P	0.61275	0.886	D	0.86578	0.1852	10	0.87932	D	0	.	17.2362	0.86999	0.0:1.0:0.0:0.0	.	131	Q86YJ5	MARH9_HUMAN	L	131	ENSP00000266643:S131L	ENSP00000266643:S131L	S	+	2	0	MARCH9	56437013	1.000000	0.71417	0.961000	0.40146	0.980000	0.70556	7.651000	0.83577	2.592000	0.87571	0.561000	0.74099	TCA	MARCH9	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	ENSG00000139266		0.662	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH9	HGNC	protein_coding	OTTHUMT00000409244.1		0	50	0	C	NM_138396		58150746	1			no_errors	ENST00000266643	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	58150746	C	T	58150746	3	4	178	1	0	0	0	0	1	0	0	0	9346	838	29	3	398	3	MARCH9	12	58150746	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	285175	58150746	75701149	144	44347											
GLIPR1L2	144321	genome.wustl.edu	37	chr12	75807475	75807475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattttcatatgcaactatgCgccagggtaagttacttaaa	14	13	7	7	1	1	0	1	0	0	0	1	0	1	0	1	1	4	3	1	1	8	7	rs550463995		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:75807475C>T	ENST00000550916.1	+	3	625	c.578C>T	c.(577-579)gCg>gTg	p.A193V	GLIPR1L2_ENST00000547164.1_Intron|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.A193V|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.A86V|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.A128V|GLIPR1L2_ENST00000435775.1_Intron	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	193						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCAACTATGCGCCAGGGTAA	0.289													C|||	1	0.000199681	0	0	5008	,	,		11243	0.001		0	False		,,,				2504	0																0													81	86	84					12																	75807475		2202	4295	6497	SO:0001583	missense	0			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.578C>T	12.37:g.75807475C>T	ENSP00000448248:p.Ala193Val		Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.A193V	ENST00000550916.1	37	c.578	CCDS58258.1	12	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250561	0.59212	.	.	ENSG00000180481	ENST00000550916;ENST00000378692;ENST00000320460;ENST00000441218	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	5.14	3.16	0.36331	CAP domain (2);	0.062202	0.64402	D	0.000005	T	0.12603	0.0306	L	0.49350	1.555	0.31845	N	0.622947	D;D	0.58620	0.983;0.972	B;P	0.48400	0.353;0.576	T	0.07770	-1.0755	10	0.38643	T	0.18	.	6.321	0.21217	0.0:0.5334:0.3665:0.1001	.	193;193	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	V	193;86;193;128	ENSP00000448248:A193V;ENSP00000367963:A86V;ENSP00000317385:A193V;ENSP00000405273:A128V	ENSP00000317385:A193V	A	+	2	0	GLIPR1L2	74093742	0.809000	0.29036	1.000000	0.80357	0.987000	0.75469	0.328000	0.19681	1.376000	0.46267	0.591000	0.81541	GCG	GLIPR1L2	-	superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000180481		0.289	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1L2	HGNC	protein_coding	OTTHUMT00000405718.1		0	82	0	C	NM_152436		75807475	1			no_errors	ENST00000550916	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.999	T	T	75807475	C	T	75807475	3	4	178	1	0	0	0	0	1	0	0	0	6469	768	27	1	588	1	GLIPR1L2	12	75807475	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	17656729	75807475	58044420	145	44348											
OGFOD2	79676	genome.wustl.edu	37	chr12	123461501	123461501	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcaagggccttctccagcgGctggagacagtatcgggtga	8	8	14	11	2	2	2	1	1	1	1	4	3	2	2	2	4	1	2	2	4	2	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr12:123461501G>A	ENST00000228922.7	+	4	419	c.387G>A	c.(385-387)cgG>cgA	p.R129R	OGFOD2_ENST00000454694.2_De_novo_Start_InFrame|OGFOD2_ENST00000397389.2_Silent_p.R69R|OGFOD2_ENST00000538628.1_De_novo_Start_OutOfFrame|OGFOD2_ENST00000536150.1_De_novo_Start_InFrame|OGFOD2_ENST00000538755.1_De_novo_Start_OutOfFrame|OGFOD2_ENST00000545612.1_De_novo_Start_OutOfFrame|OGFOD2_ENST00000545317.1_De_novo_Start_OutOfFrame|ABCB9_ENST00000542678.1_Intron|RP11-197N18.2_ENST00000540866.2_RNA|ABCB9_ENST00000442028.2_5'Flank|OGFOD2_ENST00000542117.1_3'UTR|ABCB9_ENST00000392439.3_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	129							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)	p.R69R(1)		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)	TTCTCCAGCGGCTGGAGACAG	0.642																																																	1	Substitution - coding silent(1)	endometrium(1)											35	39	38					12																	123461501		2037	4189	6226	SO:0001819	synonymous_variant	0			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.387G>A	12.37:g.123461501G>A			B3KT24|Q4KN13|Q6N023|Q9H8K6	Silent	SNP	smart_Pro_4_hyd_alph	p.R129	ENST00000228922.7	37	c.387		12																																																																																			OGFOD2	-	NULL	ENSG00000111325		0.642	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	OGFOD2	HGNC	protein_coding	OTTHUMT00000400984.1		0	70	0	G	NM_024623		123461501	1			no_errors	ENST00000228922	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.078	A	A	123461501	G	A	123461501	2	1	178	1	0	0	0	0	0	0	0	1	10881	1190	42	3		3	OGFOD2	12	123461501	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	47654026	123461501	10390394	146	44349											
TEP1	7011	genome.wustl.edu	37	chr14	20876111	20876111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaaggtctagtcccttaGagaaatgctgagccctccaa	12	10	9	10	0	1	3	0	2	1	1	3	4	3	3	3	1	2	1	3	1	5	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:20876111G>A	ENST00000262715.5	-	2	528	c.488C>T	c.(487-489)tCt>tTt	p.S163F	TEP1_ENST00000556935.1_Missense_Mutation_p.S163F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	163					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)		TAGTCCCTTAGAGAAATGCTG	0.488																																																	0													182	179	180					14																	20876111		2203	4300	6503	SO:0001583	missense	0				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.488C>T	14.37:g.20876111G>A	ENSP00000262715:p.Ser163Phe		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S163F	ENST00000262715.5	37	c.488	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947430	0.34377	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000556549	T;T;T	0.54866	0.67;0.55;1.34	4.6	3.69	0.42338	.	0.304180	0.24452	N	0.038418	T	0.41604	0.1166	L	0.32530	0.975	0.45806	D	0.998688	P;P	0.48016	0.904;0.845	B;B	0.43082	0.407;0.231	T	0.31503	-0.9941	10	0.49607	T	0.09	-0.4933	9.1318	0.36850	0.1021:0.0:0.8979:0.0	.	163;163	G3V5X7;Q99973	.;TEP1_HUMAN	F	163	ENSP00000262715:S163F;ENSP00000452574:S163F;ENSP00000452240:S163F	ENSP00000262715:S163F	S	-	2	0	TEP1	19945951	0.539000	0.26402	0.551000	0.28230	0.044000	0.14063	1.324000	0.33712	1.261000	0.44149	0.460000	0.39030	TCT	TEP1	-	NULL	ENSG00000129566		0.488	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	-	0	71	0	G	NM_007110		20876111	-1	tier1	-	no_errors	ENST00000262715	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.584	A	A	20876111	G	A	20876111	3	1	178	1	0	0	0	0	1	0	0	0	15806	942	33	3	7611	3	TEP1	14	20876111	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09		20876111	86473429	147	44350											
KHNYN	23351	genome.wustl.edu	37	chr14	24905337	24905337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccaatgaccagttccGggacctggcggaggagtctg	7	9	14	11	2	2	1	0	1	2	0	4	4	3	4	4	4	0	1	4	4	1	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:24905337G>T	ENST00000251343.5	+	6	1776	c.1637G>T	c.(1636-1638)cGg>cTg	p.R546L	KHNYN_ENST00000556842.1_Missense_Mutation_p.R546L|KHNYN_ENST00000554268.1_5'UTR|KHNYN_ENST00000553935.1_Missense_Mutation_p.R546L			O15037	KHNYN_HUMAN	KH and NYN domain containing	546							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GACCAGTTCCGGGACCTGGCG	0.512																																																	0													76	75	76					14																	24905337		2203	4300	6503	SO:0001583	missense	0			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1637G>T	14.37:g.24905337G>T	ENSP00000251343:p.Arg546Leu		Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.R546L	ENST00000251343.5	37	c.1637	CCDS32058.1	14	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662517	0.88251	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.56444	0.46;0.46;0.46	5.43	4.52	0.55395	Ribonuclease Zc3h12a-like (1);	0.058981	0.64402	D	0.000003	T	0.73783	0.3631	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.981	T	0.77627	-0.2517	10	0.87932	D	0	.	11.5376	0.50648	0.0869:0.0:0.9131:0.0	.	587;546	D3DS77;O15037	.;KHNYN_HUMAN	L	546	ENSP00000251343:R546L;ENSP00000451106:R546L;ENSP00000450799:R546L	ENSP00000251343:R546L	R	+	2	0	KHNYN	23975177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.508000	0.60441	2.706000	0.92434	0.563000	0.77884	CGG	KHNYN	-	pfam_RNase_Zc3h12	ENSG00000100441		0.512	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	HGNC	protein_coding	OTTHUMT00000412928.1	-	0	63	0	G			24905337	1	tier1	-	no_errors	ENST00000251343	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	T	T	24905337	G	T	24905337	3	4	178	1	0	0	0	0	1	0	0	0	8177	1116	39	2	1655	2	KHNYN	14	24905337	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	4029226	24905337	82444203	148	44351											
PRKD1	5587	genome.wustl.edu	37	chr14	30103628	30103628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtggatcttaccagcGtgtccttgctggtgtagtgg	4	14	13	10	1	1	0	0	0	1	0	3	1	3	1	3	3	3	2	3	3	2	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:30103628G>A	ENST00000331968.5	-	8	1539	c.1310C>T	c.(1309-1311)aCg>aTg	p.T437M	PRKD1_ENST00000415220.2_Missense_Mutation_p.T445M|PRKD1_ENST00000551644.1_5'Flank	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	437	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTTACCAGCGTGTCCTTGCT	0.473																																																	0													472	348	390					14																	30103628		2203	4300	6503	SO:0001583	missense	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1310C>T	14.37:g.30103628G>A	ENSP00000333568:p.Thr437Met		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.T437M	ENST00000331968.5	37	c.1310	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198599	0.58126	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.75704	-0.96;-0.96;-0.96	6.02	6.02	0.97574	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.229124	0.42548	D	0.000694	D	0.83138	0.5189	M	0.64997	1.995	0.44834	D	0.997842	D	0.55172	0.97	P	0.56788	0.806	T	0.82018	-0.0665	10	0.51188	T	0.08	-5.5735	20.5407	0.99260	0.0:0.0:1.0:0.0	.	437	Q15139	KPCD1_HUMAN	M	437;445;18	ENSP00000333568:T437M;ENSP00000390535:T445M;ENSP00000447333:T18M	ENSP00000333568:T437M	T	-	2	0	PRKD1	29173379	1.000000	0.71417	0.875000	0.34327	0.352000	0.29268	5.344000	0.65981	2.865000	0.98341	0.655000	0.94253	ACG	PRKD1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000184304		0.473	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2		0	42	0	G	NM_002742		30103628	-1			no_errors	ENST00000331968	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.996	A	A	30103628	G	A	30103628	3	1	178	1	0	0	0	0	1	0	0	0	12560	1145	40	1	1472	1	PRKD1	14	30103628	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	5198291	30103628	77245912	149	44352											
PELI2	57161	genome.wustl.edu	37	chr14	56763776	56763776	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatactggtctcagatcccGttgcctcatggaactcatgc	10	11	8	12	1	3	1	3	0	1	1	5	2	4	2	2	2	4	1	2	2	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:56763776G>A	ENST00000267460.4	+	6	1441	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	385					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						CTCAGATCCCGTTGCCTCATG	0.493																																																	0													154	135	141					14																	56763776		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1155G>A	14.37:g.56763776G>A			B2RDY5	Silent	SNP	pfam_Pellino_fam	p.P385	ENST00000267460.4	37	c.1155	CCDS9726.1	14																																																																																			PELI2	-	pfam_Pellino_fam	ENSG00000139946		0.493	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI2	HGNC	protein_coding	OTTHUMT00000276925.1	-	0	50	0	G			56763776	1	tier1	-	no_errors	ENST00000267460	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.000	A	A	56763776	G	A	56763776	2	1	178	1	0	0	0	0	0	0	0	1	11761	1132	40	1		1	PELI2	14	56763776	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	26660148	56763776	50585764	150	44353											
YLPM1	56252	genome.wustl.edu	37	chr14	75265987	75265987	+	Silent	SNP	A	A	G	1	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	tttcgtgaacgggatattccAtctcttccacctttaccgcc	7	14	6	14	3	1	1	0	1	1	0	5	2	3	2	5	1	2	0	5	1	3	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:75265987A>G	ENST00000325680.7	+	5	4111	c.3987A>G	c.(3985-3987)ccA>ccG	p.P1329P	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.P1134P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1134					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)		GGGATATTCCATCTCTTCCAC	0.443																																																	0													133	133	133					14																	75265987		1908	4123	6031	SO:0001819	synonymous_variant	0			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.3987A>G	14.37:g.75265987A>G			P49752|Q96I64|Q9P1V7	Silent	SNP	superfamily_P-loop_NTPase	p.P1329	ENST00000325680.7	37	c.3987	CCDS45135.1	14																																																																																			YLPM1	-	NULL	ENSG00000119596		0.443	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404451.1	-	0	41	0	A	NM_019589		75265987	1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.723	G	G	75265987	A	G	75265987	2	3	178	1	0	0	0	0	0	0	0	1	17535	204	8	4		4	YLPM1	14	75265987	Silent	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	18502211	75265987	32083553	151	44354											
AHNAK2	113146	genome.wustl.edu	37	chr14	105418557	105418557	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttgggcaagtgccctttAaggccagctccctcgggcag	7	8	12	14	1	0	0	0	0	0	0	2	0	1	0	4	3	2	3	4	3	2	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr14:105418557A>G	ENST00000333244.5	-	7	3350	c.3231T>C	c.(3229-3231)ctT>ctC	p.L1077L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1077						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)			AGTGCCCTTTAAGGCCAGCTC	0.617																																																	0													112	127	122					14																	105418557		1872	4111	5983	SO:0001819	synonymous_variant	0			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.3231T>C	14.37:g.105418557A>G			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1077	ENST00000333244.5	37	c.3231	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	117	0	A	NM_138420		105418557	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	silent	16.39	102	20	SNP	0.000	G	G	105418557	A	G	105418557	2	3	178	1	0	0	0	0	0	0	0	1	415	349	13	4		4	AHNAK2	14	105418557	Silent	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	30152570	105418557	1930983	152	44355											
INO80	54617	genome.wustl.edu	37	chr15	41365685	41365685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctgggctttaaaatGgttactatctgaaaagcaaa	14	10	10	7	0	1	1	0	1	1	0	1	1	1	1	1	3	2	3	1	3	7	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:41365685G>T	ENST00000361937.3	-	11	1760	c.1336C>A	c.(1336-1338)Cat>Aat	p.H446N	INO80_ENST00000401393.3_Missense_Mutation_p.H446N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	446	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				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						GCTTTAAAATGGTTACTATCT	0.383																																																	0													146	138	141					15																	41365685		2203	4300	6503	SO:0001583	missense	0			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.1336C>A	15.37:g.41365685G>T	ENSP00000355205:p.His446Asn		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H446N	ENST00000361937.3	37	c.1336	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827447	0.32329	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90069	-2.61;-2.61	5.63	4.62	0.57501	.	0.256396	0.41396	D	0.000886	T	0.76463	0.3991	N	0.22421	0.69	0.29537	N	0.852374	B	0.16603	0.018	B	0.15484	0.013	T	0.60919	-0.7167	10	0.18276	T	0.48	.	3.7013	0.08383	0.3436:0.0:0.6564:0.0	.	446	Q9ULG1	INO80_HUMAN	N	446	ENSP00000355205:H446N;ENSP00000384686:H446N	ENSP00000355205:H446N	H	-	1	0	INO80	39152977	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	6.158000	0.71851	2.665000	0.90641	0.591000	0.81541	CAT	INO80	-	NULL	ENSG00000128908		0.383	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	-	0	62	0	G	NM_017553		41365685	-1	tier1	-	no_errors	ENST00000361937	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	41365685	G	T	41365685	3	4	178	1	0	0	0	0	1	0	0	0	7773	1348	47	3	3438	3	INO80	15	41365685	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09		41365685	61165707	153	44356											
CEP152	22995	genome.wustl.edu	37	chr15	49083553	49083553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgattctcgaaggctgaGagtcaaaccatccttttcat	10	13	8	10	1	3	2	2	2	1	1	5	4	4	2	2	1	1	1	2	1	2	3	rs368723147		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:49083553G>T	ENST00000380950.2	-	8	1040	c.853C>A	c.(853-855)Ctc>Atc	p.L285I	CEP152_ENST00000399334.3_Missense_Mutation_p.L285I|CEP152_ENST00000325747.5_Missense_Mutation_p.L192I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	285					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)	p.L285V(1)		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)		CGAAGGCTGAGAGTCAAACCA	0.383																																																	1	Substitution - Missense(1)	breast(1)											118	100	105					15																	49083553		1818	4072	5890	SO:0001583	missense	0			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.853C>A	15.37:g.49083553G>T	ENSP00000370337:p.Leu285Ile		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.L285I	ENST00000380950.2	37	c.853	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914368	0.33815	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.81996	-1.56;-1.56;-1.56	5.56	4.63	0.57726	.	0.346229	0.30850	N	0.008748	T	0.79907	0.4527	L	0.48877	1.53	0.30003	N	0.815844	D;P;D	0.55800	0.972;0.513;0.973	P;B;P	0.50405	0.592;0.103;0.64	T	0.72843	-0.4170	10	0.10111	T	0.7	-2.2694	10.4713	0.44638	0.0:0.129:0.604:0.2669	.	192;285;285	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	I	285;192;285;285	ENSP00000370337:L285I;ENSP00000321000:L192I;ENSP00000382271:L285I	ENSP00000321000:L192I	L	-	1	0	CEP152	46870845	0.999000	0.42202	0.998000	0.56505	0.877000	0.50540	0.868000	0.27982	1.303000	0.44873	0.655000	0.94253	CTC	CEP152	-	NULL	ENSG00000103995		0.383	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1		0	67	0	G	NM_014985		49083553	-1			no_errors	ENST00000380950	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.914	T	T	49083553	G	T	49083553	3	4	178	1	0	0	0	0	1	0	0	0	3255	942	33	3	4187	3	CEP152	15	49083553	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	7717868	49083553	53447839	154	44357											
ALDH1A2	8854	genome.wustl.edu	37	chr15	58306478	58306478	+	Splice_Site	SNP	A	A	T	1	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	gccactcgttgtttataaagAtctaagggagtagataacag	14	11	10	6	1	1	2	0	0	1	2	2	3	1	3	1	1	1	3	1	1	6	7			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:58306478A>T	ENST00000249750.4	-	2	886	c.119T>A	c.(118-120)aTc>aAc	p.I40N	ALDH1A2_ENST00000558231.1_Splice_Site_p.I11N|ALDH1A2_ENST00000537372.1_Splice_Site_p.I19N|ALDH1A2_ENST00000559517.1_5'Flank|ALDH1A2_ENST00000347587.3_Splice_Site_p.I40N	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	40					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	GTTTATAAAGATCTAAGGGAG	0.453																																																	0													76	74	74					15																	58306478		2192	4292	6484	SO:0001630	splice_region_variant	0			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.118-1T>A	15.37:g.58306478A>T			B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.I40N	ENST00000249750.4	37	c.119	CCDS10163.1	15	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659626	0.88154	.	.	ENSG00000128918	ENST00000249750;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.15487	2.42;2.42;2.42	4.45	4.45	0.53987	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.77557	0.978;0.99;0.978;0.978	T	0.05750	-1.0866	10	0.87932	D	0	.	13.8965	0.63775	1.0:0.0:0.0:0.0	.	11;19;40;40	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	N	40;11;40;19	ENSP00000249750:I40N;ENSP00000309623:I40N;ENSP00000438296:I19N	ENSP00000249750:I40N	I	-	2	0	ALDH1A2	56093770	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.761000	0.91691	1.874000	0.54306	0.533000	0.62120	ATC	ALDH1A2	-	superfamily_Ald_DH/histidinol_DH	ENSG00000128918		0.453	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A2	HGNC	protein_coding	OTTHUMT00000255869.1		0	51	0	A		Missense_Mutation	58306478	-1			no_errors	ENST00000249750	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	T	T	58306478	A	T	58306478	5	4	178	1	0	0	0	0	0	0	1	0	491	347	12	5	1485	5	ALDH1A2	15	58306478	Splice_Site	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	9222925	58306478	44224914	155	44358											
GCNT3	9245	genome.wustl.edu	37	chr15	59911073	59911073	+	Silent	SNP	C	C	T	0	0	0	1	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	gacctcaactgcatggaagaCttgctccagagctcagtgcc	10	8	10	13	0	2	2	2	0	0	2	3	4	3	3	3	1	5	3	3	1	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:59911073C>T	ENST00000396065.1	+	3	1084	c.636C>T	c.(634-636)gaC>gaT	p.D212D	GCNT3_ENST00000560585.1_Silent_p.D212D	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	212					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						GCATGGAAGACTTGCTCCAGA	0.488																																																	0													133	125	128					15																	59911073		2190	4290	6480	SO:0001819	synonymous_variant	0			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.636C>T	15.37:g.59911073C>T				Silent	SNP	pfam_Glyco_trans_14	p.D212	ENST00000396065.1	37	c.636	CCDS10172.1	15																																																																																			GCNT3	-	pfam_Glyco_trans_14	ENSG00000140297		0.488	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	HGNC	protein_coding	OTTHUMT00000256068.1		0	80	0	C	NM_004751		59911073	1			no_errors	ENST00000396065	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.994	T	T	59911073	C	T	59911073	2	4	178	1	0	0	0	0	0	0	0	1	6327	564	20	3		3	GCNT3	15	59911073	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	1604595	59911073	42620319	156	44359											
PLEKHO2	80301	genome.wustl.edu	37	chr15	65157916	65157916	+	Silent	SNP	G	G	A	0	0	1	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	aacaaggtgctgggcagtgaGccggcccctgttagtgccga	8	7	15	11	2	0	1	0	1	0	0	0	2	0	1	4	3	4	3	4	3	3	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:65157916G>A	ENST00000323544.4	+	6	1430	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E	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	434										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGGGCAGTGAGCCGGCCCCTG	0.597																																																	0													45	47	47					15																	65157916		2202	4299	6501	SO:0001819	synonymous_variant	0			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.1302G>A	15.37:g.65157916G>A			Q7L4H4|Q8WYS8	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E434	ENST00000323544.4	37	c.1302	CCDS10196.1	15																																																																																			PLEKHO2	-	NULL	ENSG00000241839		0.597	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHO2	HGNC	protein_coding	OTTHUMT00000256659.1	-	0	56	0	G	NM_025201		65157916	1	tier1	-	no_errors	ENST00000323544	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.663	A	A	65157916	G	A	65157916	2	1	178	1	0	0	0	0	0	0	0	1	12124	962	34	3		3	PLEKHO2	15	65157916	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	5246843	65157916	37373476	157	44360											
MAN2A2	4122	genome.wustl.edu	37	chr15	91449976	91449976	+	Frame_Shift_Del	DEL	C	C	-																															catgccctgcccaggtgcaaCcccccgctctggctgggcag																										TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr15:91449976delC	ENST00000559717.1	+	7	1301	c.842delC	c.(841-843)accfs	p.T281fs	MAN2A2_ENST00000431652.2_5'Flank|MAN2A2_ENST00000360468.3_Frame_Shift_Del_p.T281fs			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	281					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)			CCAGGTGCAACCCCCCGCTCT	0.652																																																	0													36	37	36					15																	91449976		2198	4298	6496	SO:0001589	frameshift_variant	0			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.842delC	15.37:g.91449976delC	ENSP00000452948:p.Thr281fs		A6NH12|A8K1E8|Q13754	Frame_Shift_Del	DEL	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R283fs	ENST00000559717.1	37	c.842	CCDS32332.1	15																																																																																			MAN2A2	-	pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000196547		0.652	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5		0	23	0	C	NM_006122		91449976	1	tier1		no_errors	ENST00000360468	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.980	-	-	91449976	C	-	91449976	7	5	178	1	0	1	0	1	0	0	0	0	9253	507	18	0	864	0	MAN2A2	15	91449976	Frame_Shift_Del	DEL	C	TCGA-XP-A8T6-01A-11D-A36J-09	26292060	91449976	11081416	158	44361											
TMEM8A	58986	genome.wustl.edu	37	chr16	422216	422216	+	Missense_Mutation	SNP	A	A	T	1	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	aggccatagagacgccgggcAggaggtagaaggcccagcgc	11	2	17	11	3	0	2	0	0	0	2	0	4	0	3	3	5	1	2	3	5	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:422216A>T	ENST00000431232.2	-	13	2247	c.2087T>A	c.(2086-2088)cTg>cAg	p.L696Q	MRPL28_ENST00000389675.2_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.L503Q|MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000429738.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	696					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GACGCCGGGCAGGAGGTAGAA	0.612																																																	0													47	48	48					16																	422216		2196	4298	6494	SO:0001583	missense	0			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2087T>A	16.37:g.422216A>T	ENSP00000401338:p.Leu696Gln		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	pfam_DUF3522,pfscan_EG-like_dom	p.L696Q	ENST00000431232.2	37	c.2087	CCDS10407.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.7|24.7	4.565293|4.565293	0.86439|0.86439	.|.	.|.	ENSG00000129925|ENSG00000129925	ENST00000424078|ENST00000431232;ENST00000250930;ENST00000382942	.|T;T	.|0.49720	.|0.77;0.77	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	.|0.143851	.|0.31312	.|N	.|0.007874	T|T	0.68403|0.68403	0.2997|0.2997	M|M	0.80183|0.80183	2.485|2.485	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.71800|0.71800	-0.4483|-0.4483	5|10	.|0.48119	.|T	.|0.1	-13.2457|-13.2457	13.4001|13.4001	0.60879|0.60879	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|696	.|Q9HCN3	.|TMM8A_HUMAN	S|Q	164|696;503;184	.|ENSP00000401338:L696Q;ENSP00000250930:L503Q	.|ENSP00000250930:L503Q	C|L	-|-	1|2	0|0	TMEM8A|TMEM8A	362217|362217	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	7.161000|7.161000	0.77505|0.77505	1.763000|1.763000	0.52060|0.52060	0.374000|0.374000	0.22700|0.22700	TGC|CTG	TMEM8A	-	pfam_DUF3522	ENSG00000129925		0.612	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMEM8A	HGNC	protein_coding	OTTHUMT00000109257.2	-	0	20	0	A	NM_021259		422216	-1	tier1	-	no_errors	ENST00000431232	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T	T	422216	A	T	422216	3	4	178	1	0	0	0	0	1	0	0	0	16261	188	7	5	232	5	TMEM8A	16	422216	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09		422216	89932537	159	44362											
RAB11FIP3	9727	genome.wustl.edu	37	chr16	532543	532543	+	Missense_Mutation	SNP	A	A	G	1	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	aggccaacgaggtgacggacAgcgcgtacatgggctccgag	10	4	16	11	5	0	1	0	1	0	0	1	4	1	2	2	4	3	2	2	4	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:532543A>G	ENST00000262305.4	+	4	1310	c.922A>G	c.(922-924)Agc>Ggc	p.S308G	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.S308G|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.S12G	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	308					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GGTGACGGACAGCGCGTACAT	0.637																																					Melanoma(160;2366 2595 4474 8099)												0													94	77	83					16																	532543		2202	4300	6502	SO:0001583	missense	0			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.922A>G	16.37:g.532543A>G	ENSP00000262305:p.Ser308Gly		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom	p.S308G	ENST00000262305.4	37	c.922	CCDS32351.1	16	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274056	0.59649	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585;ENST00000450428;ENST00000449879;ENST00000448401	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	T	0.67258	0.2874	L	0.42245	1.32	0.54753	D	0.999986	D;D	0.71674	0.998;0.997	D;D	0.76071	0.987;0.985	T	0.62959	-0.6743	8	0.22706	T	0.39	-26.7571	14.7393	0.69440	1.0:0.0:0.0:0.0	.	12;308	O75154-2;O75154	.;RFIP3_HUMAN	G	308;308;184;12;12;12	.	ENSP00000262305:S308G	S	+	1	0	RAB11FIP3	472544	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	8.852000	0.92215	2.080000	0.62538	0.533000	0.62120	AGC	RAB11FIP3	-	NULL	ENSG00000090565		0.637	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	RAB11FIP3	HGNC	protein_coding	OTTHUMT00000109066.4	-	0	24	0	A	NM_014700		532543	1	tier1	-	no_errors	ENST00000457159	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G	G	532543	A	G	532543	3	3	178	1	0	0	0	0	1	0	0	0	12940	188	7	4	955	4	RAB11FIP3	16	532543	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	110327	532543	89822210	160	44363											
TBL3	10607	genome.wustl.edu	37	chr16	2025698	2025698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaggctcgctccctgcGgctgcagaaacaggtgcaca	9	6	12	14	3	0	1	0	0	0	1	2	2	1	1	1	3	5	5	1	3	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:2025698G>A	ENST00000568546.1	+	10	1102	c.974G>A	c.(973-975)cGg>cAg	p.R325Q		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	325					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						CGCTCCCTGCGGCTGCAGAAA	0.667																																					Melanoma(118;616 1651 35077 38081 48633)												0													38	39	39					16																	2025698		2198	4300	6498	SO:0001583	missense	0			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.974G>A	16.37:g.2025698G>A	ENSP00000454836:p.Arg325Gln		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R325Q	ENST00000568546.1	37	c.974	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	G	1.127	-0.653606	0.03480	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.07	-2.88	0.05682	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	1.077940	0.07105	N	0.841157	T	0.17916	0.0430	N	0.04203	-0.255	0.21553	N	0.999644	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.35549	-0.9784	9	0.02654	T	1	-7.2	12.517	0.56038	0.4377:0.0:0.5623:0.0	.	87;325	A0JLS5;Q12788	.;TBL3_HUMAN	Q	325	.	ENSP00000331815:R325Q	R	+	2	0	TBL3	1965699	0.002000	0.14202	0.076000	0.20297	0.140000	0.21249	-0.038000	0.12144	-0.476000	0.06842	-0.218000	0.12543	CGG	TBL3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000183751		0.667	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	HGNC	protein_coding	OTTHUMT00000250615.3	-	0	26	0	G	NM_006453		2025698	1	tier1	-	no_errors	ENST00000568546	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.498	A	A	2025698	G	A	2025698	3	1	178	1	0	0	0	0	1	0	0	0	15690	1116	39	1	1012	1	TBL3	16	2025698	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	1493155	2025698	88329055	161	44364											
NLRC3	197358	genome.wustl.edu	37	chr16	3613869	3613869	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagctcgcacagggtcctcgGgggccacagctctgcatcct	6	7	13	15	2	1	0	0	0	1	0	5	1	3	0	3	3	3	4	3	3	0	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:3613869G>A	ENST00000301749.7	-	0	1474				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						AGGGTCCTCGGGGGCCACAGC	0.672																																																	0													33	37	36					16																	3613869		1983	4147	6130			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613869G>A			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.P404S	ENST00000301749.7	37	c.1210		16	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099908	0.56183	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.91175	0.7220	.	.	.	0.37722	D	0.924967	D	0.89917	1.0	D	0.83275	0.996	D	0.91013	0.4851	9	0.30078	T	0.28	.	16.1451	0.81562	0.0:0.0:1.0:0.0	.	404	C9JLH9	.	S	357;357;357;404;339	ENSP00000301749:P357S;ENSP00000352039:P357S;ENSP00000414415:P404S;ENSP00000323897:P339S	ENSP00000301749:P357S	P	-	1	0	NLRC3	3553870	1.000000	0.71417	0.106000	0.21319	0.462000	0.32619	9.869000	0.99810	2.396000	0.81511	0.655000	0.94253	CCG	NLRC3	-	NULL	ENSG00000167984		0.672	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		-	0	23	0	G	NM_178844		3613869	-1	tier1	-	no_errors	ENST00000448023	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.990	A	A	3613869	G	A	3613869	1	1	178	0	1	0	0	0	0	0	0	0	10507	1232	43	3		3	NLRC3	16	3613869	RNA	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	1588171	3613869	86740884	162	44365											
FAM86A	196483	genome.wustl.edu	37	chr16	5147684	5147684	+	Silent	SNP	G	G	A	0	0	1	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	agtgtgcgtgccgccaggaaGcggcgctcgaaactctgcag	8	6	15	12	5	1	0	0	0	1	0	2	2	1	1	2	2	5	2	2	2	2	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:5147684G>A	ENST00000427587.4	-	1	125	c.57C>T	c.(55-57)cgC>cgT	p.R19R	FAM86A_ENST00000587133.1_Silent_p.R19R|RP11-10K17.6_ENST00000589323.1_lincRNA|FAM86A_ENST00000458008.4_Silent_p.R19R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	19						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CCGCCAGGAAGCGGCGCTCGA	0.746																																																	0													10	12	11					16																	5147684		2159	4223	6382	SO:0001819	synonymous_variant	0			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.57C>T	16.37:g.5147684G>A			D3DUF0|Q96S85	Silent	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.R19	ENST00000427587.4	37	c.57	CCDS10529.1	16																																																																																			FAM86A	-	NULL	ENSG00000118894		0.746	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86A	HGNC	protein_coding	OTTHUMT00000251713.1	-	0	77	0	G	NM_201400		5147684	-1	tier1	-	no_errors	ENST00000427587	ensembl	human	known	74_37	silent	28.41	63	25	SNP	1.000	A	A	5147684	G	A	5147684	2	1	178	1	0	0	0	0	0	0	0	1	5665	958	34	3		3	FAM86A	16	5147684	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	1533815	5147684	85207069	163	44366											
GDPD3	79153	genome.wustl.edu	37	chr16	30124768	30124768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatggcatagctgcccaggGcagggagggcatagtacagc	10	5	16	10	0	0	0	0	0	0	0	0	1	0	1	1	4	4	6	1	4	3	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:30124768G>A	ENST00000406256.3	-	1	409	c.32C>T	c.(31-33)gCc>gTc	p.A11V	RP11-455F5.4_ENST00000566190.1_RNA|MAPK3_ENST00000494643.1_5'Flank	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	11					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						GCTGCCCAGGGCAGGGAGGGC	0.652																																																	0													75	91	86					16																	30124768		2142	4263	6405	SO:0001583	missense	0			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.32C>T	16.37:g.30124768G>A	ENSP00000384363:p.Ala11Val		Q9H652	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.A11V	ENST00000406256.3	37	c.32	CCDS10671.2	16	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384389	0.42308	.	.	ENSG00000102886	ENST00000406256	.	.	.	5.89	5.89	0.94794	.	0.283293	0.28062	U	0.016741	T	0.41119	0.1145	L	0.43152	1.355	0.26124	N	0.980508	B	0.20887	0.049	B	0.18871	0.023	T	0.17992	-1.0351	9	0.20519	T	0.43	-4.1537	15.7362	0.77846	0.0:0.0:1.0:0.0	.	11	Q7L5L3	GDPD3_HUMAN	V	11	.	ENSP00000384363:A11V	A	-	2	0	GDPD3	30032269	0.995000	0.38212	0.747000	0.31113	0.396000	0.30629	2.706000	0.47135	2.791000	0.96007	0.591000	0.81541	GCC	GDPD3	-	NULL	ENSG00000102886		0.652	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD3	HGNC	protein_coding	OTTHUMT00000255144.1	-	0	71	0	G	NM_024307		30124768	-1	tier1	-	no_errors	ENST00000406256	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.614	A	A	30124768	G	A	30124768	3	1	178	1	0	0	0	0	1	0	0	0	6351	1203	42	3	964	3	GDPD3	16	30124768	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	24977084	30124768	60229985	164	44367											
ITGAD	3681	genome.wustl.edu	37	chr16	31419760	31419760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacaggaacccagtccaggGcaagcagctccttccagcac	11	4	9	17	0	0	0	0	0	0	0	3	1	3	1	5	2	4	4	5	2	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:31419760G>A	ENST00000389202.2	+	10	1073	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	342					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						CCAGTCCAGGGCAAGCAGCTC	0.547																																																	0													78	69	72					16																	31419760		2197	4300	6497	SO:0001583	missense	0			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.1024G>A	16.37:g.31419760G>A	ENSP00000373854:p.Ala342Thr		Q15575|Q15576	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A342T	ENST00000389202.2	37	c.1024	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	G	9.363	1.068438	0.20067	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.58652	0.32	5.47	0.106	0.14540	.	.	.	.	.	T	0.18551	0.0445	N	0.00436	-1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.17899	-1.0354	9	0.40728	T	0.16	.	1.583	0.02638	0.5589:0.1382:0.1614:0.1416	.	358;342	Q59H14;Q13349	.;ITAD_HUMAN	T	358;342	ENSP00000373854:A342T	ENSP00000373854:A342T	A	+	1	0	ITGAD	31327261	0.000000	0.05858	0.006000	0.13384	0.573000	0.36030	0.182000	0.16900	-0.221000	0.09973	-0.313000	0.08912	GCA	ITGAD	-	NULL	ENSG00000156886		0.547	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	-	0	34	0	G	NM_005353		31419760	1	tier1	-	no_errors	ENST00000389202	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.006	A	A	31419760	G	A	31419760	3	1	178	1	0	0	0	0	1	0	0	0	7911	1203	42	3	1062	3	ITGAD	16	31419760	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	1294992	31419760	58934993	165	44368											
ARMC5	79798	genome.wustl.edu	37	chr16	31473731	31473731	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gggattgggcccactcgtcaGcctggcttcccaccccaagc	6	7	11	17	1	1	0	1	0	0	0	3	1	2	1	5	3	2	1	5	3	1	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:31473731G>T	ENST00000563544.1	+	4	1409	c.863G>T	c.(862-864)aGc>aTc	p.S288I	ARMC5_ENST00000268314.4_Missense_Mutation_p.S288I|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000457010.2_Missense_Mutation_p.S288I|ARMC5_ENST00000408912.3_Missense_Mutation_p.S383I|ARMC5_ENST00000538189.1_Missense_Mutation_p.S320I|ARMC5_ENST00000412665.2_Intron			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	288										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCACTCGTCAGCCTGGCTTCC	0.652																																																	0													31	36	34					16																	31473731		2083	4220	6303	SO:0001583	missense	0			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.863G>T	16.37:g.31473731G>T	ENSP00000456877:p.Ser288Ile		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.S383I	ENST00000563544.1	37	c.1148	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	g	15.02	2.707951	0.48412	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.51	3.55	0.40652	Armadillo-like helical (1);Armadillo-type fold (1);	0.500214	0.24254	N	0.040151	T	0.56572	0.1994	L	0.36672	1.1	0.80722	D	1	B;B;B;D	0.61080	0.16;0.16;0.16;0.989	B;B;B;P	0.55161	0.087;0.118;0.055;0.77	T	0.56353	-0.7993	10	0.46703	T	0.11	0.0113	9.5524	0.39317	0.1043:0.0:0.8957:0.0	.	320;383;288;288	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	I	383;320;288;288	ENSP00000386125:S383I;ENSP00000443995:S320I;ENSP00000268314:S288I;ENSP00000399561:S288I	ENSP00000268314:S288I	S	+	2	0	ARMC5	31381232	0.071000	0.21146	1.000000	0.80357	0.862000	0.49288	1.115000	0.31209	2.060000	0.61445	0.450000	0.29827	AGC	ARMC5	-	superfamily_ARM-type_fold	ENSG00000140691		0.652	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1		0	13	0	G	NM_024742		31473731	1			no_errors	ENST00000408912	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T	T	31473731	G	T	31473731	3	4	178	1	0	0	0	0	1	0	0	0	955	971	34	3	873	3	ARMC5	16	31473731	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	53971	31473731	58881022	166	44369											
SLC9A5	6553	genome.wustl.edu	37	chr16	67304865	67304865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccccaattctgacctgcCtgcctccccatccacggggc	6	7	9	19	1	1	1	0	1	1	0	3	1	3	1	8	3	2	0	8	3	1	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:67304865C>T	ENST00000299798.11	+	16	2508	c.2443C>T	c.(2443-2445)Ctg>Ttg	p.L815L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	815					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)		TCTGACCTGCCTGCCTCCCCA	0.622																																																	0													70	76	74					16																	67304865		2049	4181	6230	SO:0001819	synonymous_variant	0				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.2443C>T	16.37:g.67304865C>T			A5PKY7|Q9Y626	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L815	ENST00000299798.11	37	c.2443	CCDS42178.1	16																																																																																			SLC9A5	-	NULL	ENSG00000135740		0.622	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1		0	96	0	C			67304865	1			no_errors	ENST00000299798	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.439	T	T	67304865	C	T	67304865	2	4	178	1	0	0	0	0	0	0	0	1	14762	680	24	3		3	SLC9A5	16	67304865	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	35831134	67304865	23049888	167	44370											
ZCCHC14	23174	genome.wustl.edu	37	chr16	87453397	87453397	+	Missense_Mutation	SNP	T	T	C	0	1	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	ttacaaactcacttggactcTgaagctgctgtgggggagag	10	10	13	8	0	2	2	1	1	1	1	2	4	2	3	0	3	4	2	0	3	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:87453397T>C	ENST00000268616.4	-	6	843	c.626A>G	c.(625-627)cAg>cGg	p.Q209R		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	209							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)		ACTTGGACTCTGAAGCTGCTG	0.428																																																	0													72	69	70					16																	87453397		2198	4300	6498	SO:0001583	missense	0			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.626A>G	16.37:g.87453397T>C	ENSP00000268616:p.Gln209Arg		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q209R	ENST00000268616.4	37	c.626	CCDS10961.1	16	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621859	0.28889	.	.	ENSG00000140948	ENST00000268616	T	0.68025	-0.3	5.53	1.93	0.25924	Phox homologous domain (2);	0.376195	0.25726	N	0.028705	T	0.40423	0.1116	N	0.08118	0	0.29865	N	0.827314	B	0.25441	0.126	B	0.16289	0.015	T	0.31613	-0.9937	10	0.45353	T	0.12	-4.0003	7.5656	0.27876	0.0:0.0695:0.2688:0.6617	.	209	Q8WYQ9	ZCH14_HUMAN	R	209	ENSP00000268616:Q209R	ENSP00000268616:Q209R	Q	-	2	0	ZCCHC14	86010898	1.000000	0.71417	0.993000	0.49108	0.734000	0.41952	2.380000	0.44327	0.340000	0.23745	0.533000	0.62120	CAG	ZCCHC14	-	superfamily_Phox	ENSG00000140948		0.428	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC14	HGNC	protein_coding	OTTHUMT00000269107.1	-	0	84	0	T	NM_015144		87453397	-1	tier1	-	no_errors	ENST00000268616	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.998	C	C	87453397	T	C	87453397	3	2	178	1	0	0	0	0	1	0	0	0	17631	1580	55	4	2255	4	ZCCHC14	16	87453397	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	20148532	87453397	2901356	168	44371											
CDT1	353	genome.wustl.edu	37	chr16	88873597	88873597	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctgaagggggtgtcccagGatctgctggagcgggtgagt	6	9	18	8	1	2	2	0	2	2	0	3	4	3	4	1	5	2	1	1	5	1	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr16:88873597G>T	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.D421Y	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GGTGTCCCAGGATCTGCTGGA	0.701																																																	0													18	23	21					16																	88873597		2193	4297	6490	SO:0001628	intergenic_variant	0				CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88873597G>T			G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	pfam_CDT1_Gemini-bd-like	p.D421Y	ENST00000378364.3	37	c.1261	CCDS32511.1	16	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751684	0.69533	.	.	ENSG00000167513	ENST00000301019	T	0.78364	-1.17	5.35	2.17	0.27698	.	0.528675	0.20059	N	0.100135	T	0.75273	0.3827	L	0.56769	1.78	0.29380	N	0.863414	D	0.53151	0.958	P	0.47044	0.535	T	0.71718	-0.4508	10	0.72032	D	0.01	-1.918	9.02	0.36193	0.0726:0.0:0.3804:0.5471	.	421	Q9H211	CDT1_HUMAN	Y	421	ENSP00000301019:D421Y	ENSP00000301019:D421Y	D	+	1	0	CDT1	87401098	0.979000	0.34478	0.997000	0.53966	0.976000	0.68499	1.814000	0.38972	0.561000	0.29186	0.561000	0.74099	GAT	CDT1	-	NULL	ENSG00000167513		0.701	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDT1	HGNC	protein_coding	OTTHUMT00000430000.2	-	0	59	0	G	NM_000485		88873597	1	tier1	-	no_errors	ENST00000301019	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.948	T	T	88873597	G	T	88873597	1	4	178	0	1	0	0	0	0	0	0	0	3187	1174	41	3		3	CDT1	16	88873597	IGR	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	1420200	88873597	1481156	169	44372											
ZZEF1	23140	genome.wustl.edu	37	chr17	3978660	3978660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	attattttcatagttgtgggCagattccttcgtccacgtat	8	17	8	8	2	1	1	1	0	0	1	4	1	3	1	2	1	0	3	2	1	3	8			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:3978660C>A	ENST00000381638.2	-	22	3422	c.3298G>T	c.(3298-3300)Gcc>Tcc	p.A1100S	ZZEF1_ENST00000574474.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1100							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						TAGTTGTGGGCAGATTCCTTC	0.448											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83	73	77					17																	3978660		2203	4300	6503	SO:0001583	missense	0			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.3298G>T	17.37:g.3978660C>A	ENSP00000371051:p.Ala1100Ser	615	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.A1100S	ENST00000381638.2	37	c.3298	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911090	0.52439	.	.	ENSG00000074755	ENST00000381638	T	0.20200	2.09	5.9	2.68	0.31781	CUB (1);	0.158262	0.56097	D	0.000026	T	0.07728	0.0194	N	0.02751	-0.505	0.30237	N	0.795327	B	0.22276	0.067	B	0.24006	0.05	T	0.19095	-1.0316	10	0.25106	T	0.35	-7.5364	6.8567	0.24044	0.0:0.5188:0.3066:0.1746	.	1100	O43149	ZZEF1_HUMAN	S	1100	ENSP00000371051:A1100S	ENSP00000371051:A1100S	A	-	1	0	ZZEF1	3925409	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.727000	0.54984	0.827000	0.34685	-0.140000	0.14226	GCC	ZZEF1	-	NULL	ENSG00000074755		0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	-	0	98	0	C	NM_015113		3978660	-1	tier1	-	no_errors	ENST00000381638	ensembl	human	known	74_37	missense	22.86	54	16	SNP	1.000	A	A	3978660	C	A	3978660	3	1	178	1	0	0	0	0	1	0	0	0	18303	710	25	3	5723	3	ZZEF1	17	3978660	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09		3978660	77216550	170	44373											
ANKFY1	51479	genome.wustl.edu	37	chr17	4086708	4086708	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	cctacctgacatttatatctGcctggtgctccagcaggaag	9	11	9	12	0	1	1	0	1	1	0	2	2	2	2	4	2	4	2	4	2	4	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:4086708G>A	ENST00000341657.4	-	14	1972	c.1937C>T	c.(1936-1938)gCa>gTa	p.A646V	ANKFY1_ENST00000573722.1_5'Flank|Y_RNA_ENST00000516003.1_RNA|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A688V|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A646V	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	646					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						ATTTATATCTGCCTGGTGCTC	0.517																																																	0													83	85	84					17																	4086708		2059	4211	6270	SO:0001583	missense	0			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.1937C>T	17.37:g.4086708G>A	ENSP00000343362:p.Ala646Val		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.A688V	ENST00000341657.4	37	c.2063		17	.	.	.	.	.	.	.	.	.	.	G	35	5.560560	0.96527	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.60424	0.19	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75903	0.3913	M	0.71296	2.17	0.80722	D	1	D;P;P;P	0.71674	0.998;0.928;0.911;0.948	D;P;P;P	0.80764	0.994;0.756;0.642;0.642	T	0.78061	-0.2351	10	0.66056	D	0.02	-9.7721	18.0864	0.89458	0.0:0.0:1.0:0.0	.	587;646;646;688	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	V	646;587	ENSP00000343362:A646V	ENSP00000343362:A646V	A	-	2	0	ANKFY1	4033457	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	9.543000	0.98089	2.503000	0.84419	0.655000	0.94253	GCA	ANKFY1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000185722		0.517	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	-	0	31	0	G	NM_016376		4086708	-1	tier1	-	no_errors	ENST00000570535	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A	A	4086708	G	A	4086708	3	1	178	1	0	0	0	0	1	0	0	0	626	1319	46	3	1623	3	ANKFY1	17	4086708	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	108048	4086708	77108502	171	44374											
KIAA0753	9851	genome.wustl.edu	37	chr17	6510250	6510250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcattcagttcctttgttCttctagaagtttcagcatca	8	17	6	10	0	6	1	4	0	2	1	7	1	7	1	1	0	1	5	1	0	2	7			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:6510250C>T	ENST00000361413.3	-	12	2310	c.1952G>A	c.(1951-1953)aGa>aAa	p.R651K	KIAA0753_ENST00000575027.1_5'Flank|KIAA0753_ENST00000542606.1_Missense_Mutation_p.R352K|KIAA0753_ENST00000589033.1_Missense_Mutation_p.R107K|KIAA0753_ENST00000572370.1_Missense_Mutation_p.R352K	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	651						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTCCTTTGTTCTTCTAGAAGT	0.443																																																	0													171	159	163					17																	6510250		1905	4139	6044	SO:0001583	missense	0				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.1952G>A	17.37:g.6510250C>T	ENSP00000355250:p.Arg651Lys		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	NULL	p.R651K	ENST00000361413.3	37	c.1952	CCDS42247.1	17	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118269	0.37339	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	D;D	0.85861	-2.04;-2.04	4.2	3.21	0.36854	.	0.303914	0.34879	N	0.003618	T	0.77890	0.4198	M	0.66939	2.045	0.34952	D	0.75131	P	0.49961	0.93	B	0.37731	0.257	T	0.79142	-0.1925	10	0.07482	T	0.82	-3.5696	10.6343	0.45556	0.0:0.8042:0.1958:0.0	.	651	Q2KHM9	K0753_HUMAN	K	651;352;107	ENSP00000355250:R651K;ENSP00000444634:R352K	ENSP00000355250:R651K	R	-	2	0	KIAA0753	6450974	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.777000	0.55364	1.037000	0.40024	-0.165000	0.13383	AGA	KIAA0753	-	NULL	ENSG00000198920		0.443	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3	-	0	40	0	C	NM_014804		6510250	-1	tier1	-	no_errors	ENST00000361413	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	T	T	6510250	C	T	6510250	3	4	178	1	0	0	0	0	1	0	0	0	8218	913	32	3	983	3	KIAA0753	17	6510250	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	2423542	6510250	74684960	172	44375											
TP53	7157	genome.wustl.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2	rs397516436		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	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_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_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	0	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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	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	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	80	0	G	NM_000546		7578212	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	39.24	48	31	SNP	0.893	A	A	7578212	G	A	7578212	4	1	178	1	0	0	0	0	0	1	0	0	16429	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	1067962	7578212	73616998	173	44376											
MYO15A	51168	genome.wustl.edu	37	chr17	18051429	18051429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggccgggcccaacagcaggGctcgggggctgcccgcacct	5	3	17	16	3	0	0	0	0	0	0	1	0	0	0	4	5	3	4	4	5	1	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:18051429G>T	ENST00000205890.5	+	31	6934	c.6596G>T	c.(6595-6597)gGc>gTc	p.G2199V	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2199	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.|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)					CAACAGCAGGGCTCGGGGGCT	0.632																																																	0													41	45	44					17																	18051429		1978	4151	6129	SO:0001583	missense	0			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.6596G>T	17.37:g.18051429G>T	ENSP00000205890:p.Gly2199Val		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.G2199V	ENST00000205890.5	37	c.6596	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935470	0.52866	.	.	ENSG00000091536	ENST00000205890	D	0.93133	-3.17	4.24	3.25	0.37280	MyTH4 domain (3);	.	.	.	.	D	0.88123	0.6352	L	0.31664	0.95	0.80722	D	1	P	0.42357	0.777	B	0.39706	0.307	D	0.85251	0.1044	9	0.31617	T	0.26	.	13.0629	0.59018	0.0:0.0:0.8378:0.1622	.	2199	Q9UKN7	MYO15_HUMAN	V	2199	ENSP00000205890:G2199V	ENSP00000205890:G2199V	G	+	2	0	MYO15A	17992154	1.000000	0.71417	0.949000	0.38748	0.964000	0.63967	5.863000	0.69568	0.988000	0.38734	0.655000	0.94253	GGC	MYO15A	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000091536		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1		0	70	0	G	NM_016239		18051429	1			no_errors	ENST00000205890	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.995	T	T	18051429	G	T	18051429	3	4	178	1	0	0	0	0	1	0	0	0	10101	1203	42	3	6710	3	MYO15A	17	18051429	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	10473217	18051429	63143781	174	44377											
SLC46A1	113235	genome.wustl.edu	37	chr17	26727724	26727724	+	Missense_Mutation	SNP	T	T	G	0	1	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	gggtagagtgagttgaagaaTgccggaggccgtcagcatgg	10	7	18	6	2	1	4	1	2	0	2	1	5	1	5	2	4	2	3	2	4	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:26727724T>G	ENST00000440501.1	-	4	1320	c.1225A>C	c.(1225-1227)Att>Ctt	p.I409L	SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_3'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000321666.5_Splice_Site	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	409					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)	AGTTGAAGAATGCCGGAGGCC	0.542																																																	0													30	38	35					17																	26727724		2068	4232	6300	SO:0001583	missense	0			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.1225A>C	17.37:g.26727724T>G	ENSP00000395653:p.Ile409Leu		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Splice_Site	SNP	-	e3+1	ENST00000440501.1	37	c.1140+1		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.85|13.85	2.360801|2.360801	0.41801|0.41801	.|.	.|.	ENSG00000076351|ENSG00000076351	ENST00000321666|ENST00000440501	.|T	.|0.79749	.|-1.3	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|.	.|.	.|.	.|.	.|T	.|0.59390	.|0.2190	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;B	.|0.21905	.|0.062;0.009	.|B;B	.|0.28709	.|0.093;0.011	.|T	.|0.55496	.|-0.8132	.|8	.|0.02654	.|T	.|1	.|-28.2885	5.946|5.946	0.19219|0.19219	0.0:0.2039:0.0:0.7961|0.0:0.2039:0.0:0.7961	.|.	.|381;409	.|Q96NT5-2;Q96NT5	.|.;PCFT_HUMAN	.|L	-1|409	.|ENSP00000395653:I409L	.|ENSP00000395653:I409L	.|I	-|-	.|1	.|0	SLC46A1|SLC46A1	23751851|23751851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.870000|1.870000	0.39529|0.39529	2.120000|2.120000	0.65058|0.65058	0.460000|0.460000	0.39030|0.39030	.|ATT	SLC46A1	-	-	ENSG00000076351		0.542	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SLC46A1	HGNC	protein_coding			0	130	0	T	NM_080669		26727724	-1			no_errors	ENST00000321666	ensembl	human	known	74_37	splice_site	7.32	114	9	SNP	0.999	G	G	26727724	T	G	26727724	3	3	178	1	0	0	0	0	1	0	0	0	14689	1464	51	4	163	4	SLC46A1	17	26727724	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	8676295	26727724	54467486	175	44378											
PCGF2	7703	genome.wustl.edu	37	chr17	36891779	36891779	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgttggtgccctcggaGggggtgggcaccgtggctag	3	9	20	9	2	0	0	0	0	0	0	1	1	0	1	2	7	1	3	2	7	1	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:36891779G>C	ENST00000580830.1	-	12	1433	c.732C>G	c.(730-732)ccC>ccG	p.P244P	PCGF2_ENST00000585100.1_Missense_Mutation_p.L246V|PCGF2_ENST00000579882.1_Missense_Mutation_p.L246V|PCGF2_ENST00000360797.2_Silent_p.P244P|PCGF2_ENST00000581345.1_Silent_p.P244P|PCGF2_ENST00000578109.1_Missense_Mutation_p.L192V			P35227	PCGF2_HUMAN	polycomb group ring finger 2	244	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)					TGCCCTCGGAGGGGGTGGGCA	0.692											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													10	11	11					17																	36891779		2197	4287	6484	SO:0001819	synonymous_variant	0			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.732C>G	17.37:g.36891779G>C		866	A6NGD8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L246V	ENST00000580830.1	37	c.736	CCDS32638.1	17																																																																																			PCGF2	-	NULL	ENSG00000056661		0.692	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF2	HGNC	protein_coding	OTTHUMT00000442246.2		0	23	0	G	NM_007144		36891779	-1			no_errors	ENST00000579882	ensembl	human	putative	74_37	missense	17.86	23	5	SNP	0.088	C	C	36891779	G	C	36891779	2	2	178	1	0	0	0	0	0	0	0	1	11614	987	35	5		5	PCGF2	17	36891779	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	10164055	36891779	44303431	176	44379											
PSME3	10197	genome.wustl.edu	37	chr17	40993560	40993560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatatcgagaagatcaaaCggccccggagcagcaatgca	17	4	10	10	3	1	2	1	0	0	2	2	4	1	3	2	2	4	3	2	2	6	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:40993560C>T	ENST00000590720.1	+	11	963	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	PSME3_ENST00000592169.1_Missense_Mutation_p.R188W|PSME3_ENST00000293362.3_Missense_Mutation_p.R257W|PSME3_ENST00000441946.2_Missense_Mutation_p.R255W|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000545225.1_Missense_Mutation_p.R183W			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	244					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GAAGATCAAACGGCCCCGGAG	0.507																																																	0													68	64	66					17																	40993560		2203	4300	6503	SO:0001583	missense	0			U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"Proteasome (prosome, macropain) subunits"	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.730C>T	17.37:g.40993560C>T	ENSP00000466794:p.Arg244Trp		A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28	p.R257W	ENST00000590720.1	37	c.769	CCDS45689.1	17	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250940	0.59212	.	.	ENSG00000131467	ENST00000545225;ENST00000293362;ENST00000441946	T;T	0.46451	0.87;0.87	5.64	1.13	0.20643	Proteasome activator pa28, REG beta subunit (2);	0.212184	0.37095	N	0.002254	T	0.45337	0.1337	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.71674	0.99;0.998;0.998;0.998	P;P;P;P	0.54815	0.683;0.761;0.761;0.731	T	0.35895	-0.9770	10	0.54805	T	0.06	-9.4521	8.7618	0.34678	0.4838:0.4441:0.0:0.0722	.	183;244;244;257	B3KQ25;Q6FHK7;P61289;P61289-2	.;.;PSME3_HUMAN;.	W	183;257;244	ENSP00000441682:R183W;ENSP00000293362:R257W	ENSP00000293362:R257W	R	+	1	2	PSME3	38247086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.526000	0.53509	0.312000	0.23038	0.650000	0.86243	CGG	PSME3	-	pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28	ENSG00000131467		0.507	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME3	HGNC	protein_coding	OTTHUMT00000452430.1	-	0	59	0	C	NM_176863		40993560	1	tier1	-	no_errors	ENST00000293362	ensembl	human	known	74_37	missense	21.43	55	15	SNP	1.000	T	T	40993560	C	T	40993560	3	4	178	1	0	0	0	0	1	0	0	0	12750	527	19	1	811	1	PSME3	17	40993560	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	4101781	40993560	40201650	177	44380											
GJC1	10052	genome.wustl.edu	37	chr17	42883008	42883008	+	Missense_Mutation	SNP	A	A	G	1	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	atcataacagacattctcacAgcccggctgttctgtgttgc	9	12	8	12	1	3	1	2	0	2	1	4	1	3	1	1	1	3	3	1	1	1	4	rs189511236		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:42883008A>G	ENST00000426548.1	-	3	447	c.178T>C	c.(178-180)Tgt>Cgt	p.C60R	GJC1_ENST00000330514.4_Missense_Mutation_p.C60R|GJC1_ENST00000592524.1_Missense_Mutation_p.C60R|GJC1_ENST00000590758.1_Missense_Mutation_p.C60R	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	60					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)				ACATTCTCACAGCCCGGCTGT	0.493																																																	0													159	138	145					17																	42883008		2203	4300	6503	SO:0001583	missense	0			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.178T>C	17.37:g.42883008A>G	ENSP00000411528:p.Cys60Arg		B3KW68|Q4VAY0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin45	p.C60R	ENST00000426548.1	37	c.178	CCDS11487.1	17	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329166	0.60743	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.99741	-6.6;-6.6	5.27	5.27	0.74061	Connexin, conserved site (1);Connexin, N-terminal (2);	0.100806	0.64402	D	0.000001	D	0.99809	0.9917	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96833	0.9612	10	0.87932	D	0	.	14.3922	0.66986	1.0:0.0:0.0:0.0	.	60	P36383	CXG1_HUMAN	R	60	ENSP00000411528:C60R;ENSP00000333193:C60R	ENSP00000333193:C60R	C	-	1	0	GJC1	40238534	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	9.339000	0.96797	1.994000	0.58287	0.379000	0.24179	TGT	GJC1	-	pfam_Connexin_N,smart_Connexin_N,prints_Connexin	ENSG00000182963		0.493	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC1	HGNC	protein_coding	OTTHUMT00000448661.1	-	0	46	0	A	NM_005497		42883008	-1	tier1	-	no_errors	ENST00000330514	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	G	G	42883008	A	G	42883008	3	3	178	1	0	0	0	0	1	0	0	0	6440	188	7	4	1016	4	GJC1	17	42883008	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	1889448	42883008	38312202	178	44381											
IMP5	162540	genome.wustl.edu	37	chr17	43923001	43923001	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagggagcccagaaggaagaTaatgaggacatcccagtgga	15	4	15	7	0	0	3	0	1	0	2	1	8	1	7	2	4	1	0	2	4	3	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:43923001T>C	ENST00000329196.5	+	1	746	c.729T>C	c.(727-729)gaT>gaC	p.D243D	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	243						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										AGAAGGAAGATAATGAGGACA	0.612																																																	0													60	60	60					17																	43923001		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.729T>C	17.37:g.43923001T>C			Q8TC67|Q8WVZ6	Silent	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP	p.D243	ENST00000329196.5	37	c.729	CCDS32673.1	17																																																																																			SPPL2C	-	NULL	ENSG00000185294		0.612	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	HGNC	protein_coding	OTTHUMT00000441156.1	-	0	49	0	T	NM_175882		43923001	1	tier1	-	no_errors	ENST00000329196	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.003	C	C	43923001	T	C	43923001	2	2	178	1	0	0	0	0	0	0	0	1	7748	1403	49	4		4	IMP5	17	43923001	Silent	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	1039993	43923001	37272209	179	44382											
ITGA3	3675	genome.wustl.edu	37	chr17	48157713	48157713	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccaacgtgactgtgaaggcaCgagtgtggaacagcaccttc	11	7	12	11	2	0	2	0	2	0	0	1	4	0	3	2	2	3	2	2	2	3	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:48157713C>T	ENST00000320031.8	+	22	3124	c.2794C>T	c.(2794-2796)Cga>Tga	p.R932*	ITGA3_ENST00000007722.7_Nonsense_Mutation_p.R932*	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)	932					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						TGTGAAGGCACGAGTGTGGAA	0.617																																																	0													121	83	96					17																	48157713		2203	4300	6503	SO:0001587	stop_gained	0			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.2794C>T	17.37:g.48157713C>T	ENSP00000315190:p.Arg932*		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R932*	ENST00000320031.8	37	c.2794	CCDS11558.1	17	.	.	.	.	.	.	.	.	.	.	C	44	11.111928	0.99517	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4755	0.55811	0.1675:0.8325:0.0:0.0	.	.	.	.	X	932;918;932	.	ENSP00000007722:R932X	R	+	1	2	ITGA3	45512712	0.998000	0.40836	0.974000	0.42286	0.821000	0.46438	3.825000	0.55730	2.632000	0.89209	0.655000	0.94253	CGA	ITGA3	-	NULL	ENSG00000005884		0.617	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	HGNC	protein_coding	OTTHUMT00000366298.1	-	0	50	0	C	NM_005501		48157713	1	tier1	-	no_errors	ENST00000320031	ensembl	human	known	74_37	nonsense	16.67	30	6	SNP	0.956	T	T	48157713	C	T	48157713	4	4	178	1	0	0	0	0	0	1	0	0	7904	528	19	1	2880	1	ITGA3	17	48157713	Nonsense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	4234712	48157713	33037497	180	44383											
TANC2	26115	genome.wustl.edu	37	chr17	61086934	61086934	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	tataaccatgtttcggaataGtctcaagatgctgcttactg	11	14	8	8	1	1	1	1	0	1	1	3	2	1	2	1	1	4	3	1	1	6	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:61086934G>A	ENST00000424789.2	+	1	18	c.14G>A	c.(13-15)aGt>aAt	p.S5N	TANC2_ENST00000389520.4_Missense_Mutation_p.S5N	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	5					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						TTTCGGAATAGTCTCAAGATG	0.333																																																	0													161	158	159					17																	61086934		1857	4108	5965	SO:0001583	missense	0			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.14G>A	17.37:g.61086934G>A	ENSP00000387593:p.Ser5Asn		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S5N	ENST00000424789.2	37	c.14	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863167	0.71949	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.69175	-0.38;-0.38	5.61	5.61	0.85477	.	.	.	.	.	T	0.63450	0.2512	N	0.08118	0	0.34710	D	0.727648	D	0.54601	0.967	P	0.57776	0.827	T	0.74565	-0.3623	9	0.54805	T	0.06	.	16.5663	0.84599	0.0:0.0:1.0:0.0	.	5	Q9HCD6	TANC2_HUMAN	N	5	ENSP00000374171:S5N;ENSP00000387593:S5N	ENSP00000374171:S5N	S	+	2	0	TANC2	58440666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.800000	0.69108	2.652000	0.90054	0.484000	0.47621	AGT	TANC2	-	NULL	ENSG00000170921		0.333	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	-	0	71	0	G			61086934	1	tier1	-	no_errors	ENST00000424789	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	A	A	61086934	G	A	61086934	3	1	178	1	0	0	0	0	1	0	0	0	15592	1029	36	3	16	3	TANC2	17	61086934	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	12929221	61086934	20108276	181	44384											
GPRC5C	55890	genome.wustl.edu	37	chr17	72442995	72442995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcttccttccagtccgaagGagcttacgacatcatcctcc	8	12	6	15	2	2	0	1	0	1	0	7	3	7	1	5	1	2	1	5	1	2	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:72442995G>A	ENST00000392627.1	+	4	2415	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E	GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.G397E|GPRC5C_ENST00000342648.5_Missense_Mutation_p.G70E|GPRC5C_ENST00000481232.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	385					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CAGTCCGAAGGAGCTTACGAC	0.632																																																	0													48	42	44					17																	72442995		2203	4300	6503	SO:0001583	missense	0			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1289G>A	17.37:g.72442995G>A	ENSP00000376403:p.Gly430Glu		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.G430E	ENST00000392627.1	37	c.1289	CCDS11699.1	17	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831386	0.50845	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.16897	2.31	5.29	5.29	0.74685	.	0.645972	0.16148	N	0.227395	T	0.33962	0.0881	L	0.36672	1.1	0.32762	N	0.504993	D;P;P;P	0.89917	1.0;0.651;0.651;0.822	D;B;B;B	0.81914	0.995;0.198;0.198;0.173	T	0.18366	-1.0339	10	0.41790	T	0.15	-27.5923	17.8626	0.88786	0.0:0.0:1.0:0.0	.	96;385;385;397	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	E	385;430;96;397;385	ENSP00000376405:G397E	ENSP00000262616:G96E	G	+	2	0	GPRC5C	69954590	1.000000	0.71417	0.827000	0.32855	0.995000	0.86356	3.817000	0.55668	2.648000	0.89879	0.561000	0.74099	GGA	GPRC5C	-	NULL	ENSG00000170412		0.632	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5C	HGNC	protein_coding	OTTHUMT00000145094.2	-	0	87	0	G			72442995	1	tier1	-	no_errors	ENST00000392627	ensembl	human	known	74_37	missense	15.58	65	12	SNP	0.976	A	A	72442995	G	A	72442995	3	1	178	1	0	0	0	0	1	0	0	0	6753	1174	41	3	1311	3	GPRC5C	17	72442995	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	11356061	72442995	8752215	182	44385											
ACOX1	51	genome.wustl.edu	37	chr17	73945584	73945584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actaccactgacctcacttgCtcgaacaaggtcaacagaag	14	7	7	13	1	2	2	2	1	0	1	3	3	2	2	2	1	4	1	2	1	5	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr17:73945584C>A	ENST00000301608.4	-	11	1636	c.1576G>T	c.(1576-1578)Gca>Tca	p.A526S	ACOX1_ENST00000293217.5_Missense_Mutation_p.A526S|ACOX1_ENST00000537812.1_Missense_Mutation_p.A488S	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	526					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	ACCTCACTTGCTCGAACAAGG	0.423																																																	0													147	129	135					17																	73945584		2203	4300	6503	SO:0001583	missense	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1576G>T	17.37:g.73945584C>A	ENSP00000301608:p.Ala526Ser		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.A526S	ENST00000301608.4	37	c.1576	CCDS11735.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.214807	0.95104	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.51325	0.71;0.71;0.71	5.48	5.48	0.80851	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.90650	3.135	0.80722	D	1	D;P;P;P	0.56287	0.975;0.889;0.887;0.749	D;P;P;P	0.64237	0.923;0.874;0.893;0.678	T	0.78952	-0.2001	10	0.62326	D	0.03	-17.2222	19.7503	0.96265	0.0:1.0:0.0:0.0	.	458;488;526;526	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	S	526;526;488;526;458	ENSP00000301608:A526S;ENSP00000293217:A526S;ENSP00000441257:A488S	ENSP00000293217:A526S	A	-	1	0	ACOX1	71457179	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	5.273000	0.65564	2.746000	0.94184	0.655000	0.94253	GCA	ACOX1	-	pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000161533		0.423	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	-	0	113	0	C			73945584	-1	tier1	-	no_errors	ENST00000293217	ensembl	human	known	74_37	missense	18.42	93	21	SNP	1.000	A	A	73945584	C	A	73945584	3	1	178	1	0	0	0	0	1	0	0	0	158	797	28	3	422	3	ACOX1	17	73945584	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	1502589	73945584	7249626	183	44386											
NAPG	8774	genome.wustl.edu	37	chr18	10548971	10548971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttactgcagcatccctGggttcaatggcagtgaagac	9	10	12	10	0	1	2	1	1	0	1	2	2	2	2	1	2	4	5	1	2	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr18:10548971G>T	ENST00000322897.6	+	11	742	c.673G>T	c.(673-675)Ggg>Tgg	p.G225W	NAPG_ENST00000542979.1_Missense_Mutation_p.G143W	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	225					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						CAGCATCCCTGGGTTCAATGG	0.502																																																	0													125	122	123					18																	10548971		2050	4207	6257	SO:0001583	missense	0			U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"gamma SNAP"	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.673G>T	18.37:g.10548971G>T	ENSP00000324628:p.Gly225Trp		B4DFC9|Q9BUV1	Missense_Mutation	SNP	NULL	p.G225W	ENST00000322897.6	37	c.673	CCDS45827.1	18	.	.	.	.	.	.	.	.	.	.	G	18.94	3.728737	0.69074	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	T;T	0.76839	-1.05;-1.05	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.88228	0.6380	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88730	0.3236	10	0.87932	D	0	-9.9788	19.7244	0.96157	0.0:0.0:1.0:0.0	.	225	Q99747	SNAG_HUMAN	W	225;143	ENSP00000324628:G225W;ENSP00000442849:G143W	ENSP00000324628:G225W	G	+	1	0	NAPG	10538971	1.000000	0.71417	0.471000	0.27229	0.340000	0.28889	9.414000	0.97362	2.659000	0.90383	0.655000	0.94253	GGG	NAPG	-	NULL	ENSG00000134265		0.502	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPG	HGNC	protein_coding	OTTHUMT00000444873.1	-	0	56	0	G	NM_003826		10548971	1	tier1	-	no_errors	ENST00000322897	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	10548971	G	T	10548971	3	4	178	1	0	0	0	0	1	0	0	0	10202	1348	47	3	715	3	NAPG	18	10548971	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09		10548971	67528277	184	44387											
AFG3L2	10939	genome.wustl.edu	37	chr18	12358764	12358764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttggcctcctcacagccagCcacatctttgaacttcacat	9	11	5	16	0	3	1	2	1	1	0	4	1	4	1	4	1	3	0	4	1	1	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr18:12358764C>T	ENST00000269143.3	-	8	1162	c.931G>A	c.(931-933)Gct>Act	p.A311T		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	311					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)	TCACAGCCAGCCACATCTTTG	0.468																																																	0													101	90	94					18																	12358764		2203	4300	6503	SO:0001583	missense	0			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.931G>A	18.37:g.12358764C>T	ENSP00000269143:p.Ala311Thr		Q6P1L0	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.A311T	ENST00000269143.3	37	c.931	CCDS11859.1	18	.	.	.	.	.	.	.	.	.	.	C	36	5.657912	0.96734	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.57907	0.37	5.76	5.76	0.90799	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.85535	0.5719	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91291	0.5059	10	0.87932	D	0	-1.7034	19.9664	0.97271	0.0:1.0:0.0:0.0	.	311	Q9Y4W6	AFG32_HUMAN	T	311;326	ENSP00000269143:A311T	ENSP00000269143:A311T	A	-	1	0	AFG3L2	12348764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.718000	0.92993	0.655000	0.94253	GCT	AFG3L2	-	superfamily_P-loop_NTPase,tigrfam_FtsH	ENSG00000141385		0.468	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	-	0	53	0	C	NM_006796		12358764	-1	tier1	-	no_errors	ENST00000269143	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	12358764	C	T	12358764	3	4	178	1	0	0	0	0	1	0	0	0	360	739	26	3	1502	3	AFG3L2	18	12358764	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	1809793	12358764	65718484	185	44388											
NPC1	4864	genome.wustl.edu	37	chr18	21121380	21121380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagaaggtgtgcacggctgGcatcacggacaatgctcctg	10	7	14	10	2	1	1	1	0	0	1	2	3	2	2	1	4	2	4	1	4	2	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr18:21121380G>A	ENST00000269228.5	-	15	2817	c.2263C>T	c.(2263-2265)Cca>Tca	p.P755S	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.P437S	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	755	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				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)					TGCACGGCTGGCATCACGGAC	0.512																																																	0													81	72	75					18																	21121380		2203	4300	6503	SO:0001583	missense	0			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.2263C>T	18.37:g.21121380G>A	ENSP00000269228:p.Pro755Ser		B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type	p.P755S	ENST00000269228.5	37	c.2263	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266164	0.80358	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.96716	-4.1;-4.1	5.89	5.89	0.94794	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.986	D	0.99069	1.0833	10	0.87932	D	0	-20.7436	20.2566	0.98424	0.0:0.0:1.0:0.0	.	766;755	Q59GR1;O15118	.;NPC1_HUMAN	S	755;437;600	ENSP00000269228:P755S;ENSP00000408606:P437S	ENSP00000269228:P755S	P	-	1	0	NPC1	19375378	1.000000	0.71417	0.999000	0.59377	0.127000	0.20565	9.787000	0.99055	2.793000	0.96121	0.561000	0.74099	CCA	NPC1	-	pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type	ENSG00000141458		0.512	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	-	0	61	0	G	NM_000271		21121380	-1	tier1	-	no_errors	ENST00000269228	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	21121380	G	A	21121380	3	1	178	1	0	0	0	0	1	0	0	0	10609	1203	42	3	1617	3	NPC1	18	21121380	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	8762616	21121380	56955868	186	44389											
SS18	6760	genome.wustl.edu	37	chr18	23618524	23618524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaggagagattaccatcaGggtaatattgctggttcatg	12	12	11	6	0	3	1	3	0	0	1	3	3	3	2	1	3	2	3	1	3	3	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr18:23618524G>T	ENST00000415083.2	-	7	930	c.875C>A	c.(874-876)cCt>cAt	p.P292H	SS18_ENST00000269137.7_Missense_Mutation_p.P292H|SS18_ENST00000545952.1_Missense_Mutation_p.P240H|SS18_ENST00000585241.1_5'Flank|SS18_ENST00000542743.1_Missense_Mutation_p.P240H|SS18_ENST00000542420.2_Missense_Mutation_p.P269H|SS18_ENST00000539849.1_Missense_Mutation_p.P210H	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	292	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.P292H(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ATTACCATCAGGGTAATATTG	0.438			T	"SSX1,  SSX2"	synovial sarcoma																																			Dom	yes		18	18q11.2	6760	"synovial sarcoma translocation, chromosome 18"		M	1	Substitution - Missense(1)	lung(1)											186	174	178					18																	23618524		2203	4300	6503	SO:0001583	missense	0			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.875C>A	18.37:g.23618524G>T	ENSP00000414516:p.Pro292His		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	pfam_SS18_fam	p.P292H	ENST00000415083.2	37	c.875	CCDS32807.1	18	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369198	0.61624	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952;ENST00000539244	T;T;T;T;T	0.36699	1.45;1.27;1.41;1.24;1.41	5.66	3.86	0.44501	.	0.291702	0.38164	N	0.001784	T	0.47838	0.1467	L	0.39898	1.24	0.58432	D	0.999998	P;P;D	0.89917	0.697;0.553;1.0	B;B;D	0.69142	0.339;0.258;0.962	T	0.43261	-0.9402	10	0.59425	D	0.04	-4.2867	11.8585	0.52453	0.0664:0.1229:0.8107:0.0	.	240;292;292	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	H	295;292;292;269;240;210;240;7	ENSP00000269137:P292H;ENSP00000438066:P269H;ENSP00000444551:P240H;ENSP00000444647:P210H;ENSP00000443097:P240H	ENSP00000269137:P292H	P	-	2	0	SS18	21872522	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	6.621000	0.74228	0.844000	0.35094	-0.150000	0.13652	CCT	SS18	-	NULL	ENSG00000141380		0.438	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SS18	HGNC	protein_coding	OTTHUMT00000446226.1	-	0	84	0	G			23618524	-1	tier1	-	no_errors	ENST00000415083	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	23618524	G	T	23618524	3	4	178	1	0	0	0	0	1	0	0	0	15222	1000	35	3	401	3	SS18	18	23618524	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	2497144	23618524	54458724	187	44390											
SERPINB10	5273	genome.wustl.edu	37	chr18	61602418	61602420	+	In_Frame_Del	DEL	TCA	TCA	-																															aaatcacccattcctcttctTcatcaggcacaataaaacca																								rs144013553		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	TCA	TCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr18:61602418_61602420delTCA	ENST00000238508.3	+	8	1195_1197	c.1136_1138delTCA	c.(1135-1140)ttcatc>ttc	p.I380del	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	380					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)				TTCCTCTTCTTCATCAGGCACAA	0.409																																																	0																																										SO:0001651	inframe_deletion	0			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.1136_1138delTCA	18.37:g.61602421_61602423delTCA	ENSP00000238508:p.Ile380del		Q4VAX4|Q4VAX7	In_Frame_Del	DEL	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.I380in_frame_del	ENST00000238508.3	37	c.1136_1138	CCDS11990.1	18																																																																																			SERPINB10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000242550		0.409	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB10	HGNC	protein_coding	OTTHUMT00000134012.3		0	30	0	TCA	NM_005024		61602420	1	tier1		no_errors	ENST00000238508	ensembl	human	known	74_37	in_frame_del	18.18	9	2	DEL	1.000:1.000:1.000	-	-	61602420	TCA	-	61602418	7	5	178	1	0	1	0	1	0	0	0	0	14142	1783	62	0	1162	0	SERPINB10	18	61602418	In_Frame_Del	DEL	TCA	TCGA-XP-A8T6-01A-11D-A36J-09	37983894	61602418	16474830	188	44391											
TMPRSS9	360200	genome.wustl.edu	37	chr19	2399192	2399192	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgtcggctgagctcacagGtgagtgggcagccgagaccg	7	7	17	10	3	1	3	1	2	0	1	2	4	1	3	2	3	2	3	2	3	0	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:2399192G>A	ENST00000332578.3	+	3	412		c.e3+1			NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9						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)		GAGCTCACAGGTGAGTGGGCA	0.582																																																	0													32	29	30					19																	2399192		2203	4299	6502	SO:0001630	splice_region_variant	0			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.412+1G>A	19.37:g.2399192G>A			Q6ZND6|Q7Z411	Splice_Site	SNP	-	e3+1	ENST00000332578.3	37	c.412+1	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	9.887	1.203146	0.22121	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0845	0.64947	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMPRSS9	2350192	1.000000	0.71417	0.959000	0.39883	0.018000	0.09664	5.353000	0.66034	2.187000	0.69744	0.456000	0.33151	.	TMPRSS9	-	-	ENSG00000178297		0.582	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	-	0	85	0	G	NM_182973	Intron	2399192	1	tier1	-	no_errors	ENST00000332578	ensembl	human	known	74_37	splice_site	6.67	54	4	SNP	1.000	A	A	2399192	G	A	2399192	5	1	178	1	0	0	0	0	0	0	1	0	16300	1275	44	3	423	3	TMPRSS9	19	2399192	Splice_Site	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09		2399192	56729791	189	44392											
INSR	3643	genome.wustl.edu	37	chr19	7141779	7141779	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcaagtggacgacgttgTtctcaaagatttcatgcgtc	11	12	9	9	3	3	1	3	0	1	1	5	3	3	2	0	1	1	2	0	1	2	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:7141779T>A	ENST00000302850.5	-	13	2733	c.2591A>T	c.(2590-2592)aAc>aTc	p.N864I	INSR_ENST00000341500.5_Missense_Mutation_p.N852I	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	864	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GACGACGTTGTTCTCAAAGAT	0.512																																																	0													176	130	146					19																	7141779		2203	4300	6503	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2591A>T	19.37:g.7141779T>A	ENSP00000303830:p.Asn864Ile		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.N864I	ENST00000302850.5	37	c.2591	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016786	0.35606	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.50001	0.76;0.76	5.3	5.3	0.74995	Fibronectin, type III (4);	0.290613	0.23836	U	0.044082	T	0.47284	0.1437	L	0.44542	1.39	0.40165	D	0.977109	B;B	0.25105	0.05;0.118	B;B	0.40066	0.213;0.318	T	0.49835	-0.8897	10	0.44086	T	0.13	.	9.4398	0.38661	0.0:0.0:0.1789:0.8211	.	852;864	P06213-2;P06213	.;INSR_HUMAN	I	864;852	ENSP00000303830:N864I;ENSP00000342838:N852I	ENSP00000303830:N864I	N	-	2	0	INSR	7092779	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	5.480000	0.66820	1.994000	0.58287	0.528000	0.53228	AAC	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000171105		0.512	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1		0	50	0	T			7141779	-1			no_errors	ENST00000302850	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	A	A	7141779	T	A	7141779	3	1	178	1	0	0	0	0	1	0	0	0	7800	1725	60	5	1597	5	INSR	19	7141779	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	4742587	7141779	51987204	190	44393											
MUC16	94025	genome.wustl.edu	37	chr19	9061099	9061099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggtgatggtcatttctgCtgatcctgtcgtggtgaggg	4	13	18	6	1	2	3	1	3	1	0	4	3	3	3	1	5	1	1	1	5	0	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:9061099C>T	ENST00000397910.4	-	3	26550	c.26347G>A	c.(26347-26349)Gca>Aca	p.A8783T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8785	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						GTCATTTCTGCTGATCCTGTC	0.507																																																	0													147	133	138					19																	9061099		1985	4164	6149	SO:0001583	missense	0			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.26347G>A	19.37:g.9061099C>T	ENSP00000381008:p.Ala8783Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A8783T	ENST00000397910.4	37	c.26347	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	N	7.834	0.720402	0.15372	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.85	-2.05	0.07321	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	.	.	.	B	0.19817	0.039	B	0.23574	0.047	T	0.42396	-0.9454	8	0.87932	D	0	.	5.3	0.15773	0.0:0.4833:0.0:0.5167	.	8783	B5ME49	.	T	8783	ENSP00000381008:A8783T	ENSP00000381008:A8783T	A	-	1	0	MUC16	8922099	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-5.148000	0.00146	-0.418000	0.07450	0.298000	0.19748	GCA	MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	48	0	C	NM_024690		9061099	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	T	T	9061099	C	T	9061099	3	4	178	1	0	0	0	0	1	0	0	0	10011	797	28	3	17504	3	MUC16	19	9061099	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	1919320	9061099	50067884	191	44394											
DNMT1	1786	genome.wustl.edu	37	chr19	10265092	10265092	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttggtggtggtggctttCgtgggtcccctgtccttctc	1	15	14	11	1	1	0	0	0	1	0	5	0	3	0	3	5	1	2	3	5	0	3	rs202058239		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:10265092C>A	ENST00000340748.4	-	21	2083	c.1848G>T	c.(1846-1848)acG>acT	p.T616T	DNMT1_ENST00000359526.4_Silent_p.T632T|DNMT1_ENST00000540357.1_Silent_p.T616T			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	616					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)	p.T616T(1)		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)	TGGTGGCTTTCGTGGGTCCCC	0.552																																																	1	Substitution - coding silent(1)	prostate(1)											165	167	166					19																	10265092		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1848G>T	19.37:g.10265092C>A			A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.T632	ENST00000340748.4	37	c.1896	CCDS12228.1	19																																																																																			DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk	ENSG00000130816		0.552	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	-	0	46	0	C	NM_001379		10265092	-1	tier1	-	no_errors	ENST00000359526	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.161	A	A	10265092	C	A	10265092	2	1	178	1	0	0	0	0	0	0	0	1	4689	871	31	2		2	DNMT1	19	10265092	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	1203993	10265092	48863891	192	44395											
MAN2B1	4125	genome.wustl.edu	37	chr19	12775706	12775706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatgtgtcctccagaaagCgcagcccaagtgtcatctgg	11	8	10	12	1	2	1	1	0	1	1	4	1	4	1	3	1	2	1	3	1	3	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:12775706C>A	ENST00000456935.2	-	4	570	c.530G>T	c.(529-531)cGc>cTc	p.R177L	WDR83_ENST00000418543.3_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.R177L|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.R174L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	177					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)	p.R177H(1)		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						CTCCAGAAAGCGCAGCCCAAG	0.627																																																	1	Substitution - Missense(1)	endometrium(1)											106	75	86					19																	12775706		2203	4300	6503	SO:0001583	missense	0				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.530G>T	19.37:g.12775706C>A	ENSP00000395473:p.Arg177Leu		G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R177L	ENST00000456935.2	37	c.530	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526007	0.64860	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.81163	-1.46;-1.46	5.69	0.651	0.17817	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.288126	0.25386	N	0.031057	T	0.82245	0.4995	M	0.64260	1.97	0.45464	D	0.998431	D;D	0.57571	0.98;0.966	P;P	0.55923	0.681;0.787	T	0.80821	-0.1211	10	0.72032	D	0.01	-26.7853	8.5874	0.33666	0.0:0.5784:0.0:0.4216	.	177;177	G5E928;O00754	.;MA2B1_HUMAN	L	177;116;177	ENSP00000395473:R177L;ENSP00000221363:R177L	ENSP00000221363:R177L	R	-	2	0	MAN2B1	12636706	0.998000	0.40836	0.986000	0.45419	0.952000	0.60782	1.935000	0.40173	0.354000	0.24105	-0.333000	0.08304	CGC	MAN2B1	-	pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000104774		0.627	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1		0	37	0	C			12775706	-1			no_errors	ENST00000456935	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.997	A	A	12775706	C	A	12775706	3	1	178	1	0	0	0	0	1	0	0	0	9254	768	27	2	2589	2	MAN2B1	19	12775706	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	2510614	12775706	46353277	193	44396											
CACNA1A	773	genome.wustl.edu	37	chr19	13368366	13368366	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgaatgcttgaggaccCtgcaaggaatggggcaggga	11	5	15	10	1	0	1	0	1	0	0	0	5	0	4	3	5	2	3	3	5	3	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:13368366C>A	ENST00000360228.5	-	28	4388		c.e28-1		CACNA1A_ENST00000573710.2_Splice_Site	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						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)	CTTGAGGACCCTGCaaggaat	0.592																																																	0													31	29	30					19																	13368366		1931	4132	6063	SO:0001630	splice_region_variant	0			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.4389-1G>T	19.37:g.13368366C>A			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Splice_Site	SNP	-	e28-1	ENST00000360228.5	37	c.4389-1	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436273	0.25813	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	.	.	.	5.13	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8263	0.63352	0.1548:0.8452:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA1A	13229366	1.000000	0.71417	0.990000	0.47175	0.032000	0.12392	7.757000	0.85209	1.137000	0.42214	-0.311000	0.09066	.	CACNA1A	-	-	ENSG00000141837		0.592	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0	26	0	C	NM_000068	Intron	13368366	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	splice_site	6.45	29	2	SNP	1.000	A	A	13368366	C	A	13368366	5	1	178	1	0	0	0	0	0	0	1	0	2545	695	24	3	3314	3	CACNA1A	19	13368366	Splice_Site	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	592660	13368366	45760617	194	44397											
EPHX3	79852	genome.wustl.edu	37	chr19	15341862	15341862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaatgccaggcaaggaggGcaccccagtcatgggccaca	13	3	13	12	0	1	1	1	0	0	1	1	2	1	2	4	4	1	2	4	4	2	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:15341862G>A	ENST00000221730.3	-	4	747	c.527C>T	c.(526-528)gCc>gTc	p.A176V	EPHX3_ENST00000602233.1_Missense_Mutation_p.A176V|EPHX3_ENST00000435261.1_Missense_Mutation_p.A176V	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	176						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGCAAGGAGGGCACCCCAGTC	0.577																																																	0													115	91	99					19																	15341862		2203	4300	6503	SO:0001583	missense	0			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.527C>T	19.37:g.15341862G>A	ENSP00000221730:p.Ala176Val		A3KMR3	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.A176V	ENST00000221730.3	37	c.527	CCDS12327.1	19	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443449	0.63067	.	.	ENSG00000105131	ENST00000221730;ENST00000435261	T;T	0.71579	-0.58;-0.58	4.37	0.615	0.17608	Alpha/beta hydrolase fold-1 (1);	0.492896	0.17267	N	0.180558	D	0.83811	0.5335	M	0.88704	2.975	0.26545	N	0.974004	D	0.71674	0.998	D	0.71656	0.974	T	0.76035	-0.3106	10	0.87932	D	0	-5.4308	11.7232	0.51693	0.0:0.5775:0.4225:0.0	.	176	Q9H6B9	EPHX3_HUMAN	V	176	ENSP00000221730:A176V;ENSP00000410323:A176V	ENSP00000221730:A176V	A	-	2	0	EPHX3	15202862	0.067000	0.21026	0.165000	0.22776	0.777000	0.43975	1.014000	0.29950	0.442000	0.26555	0.561000	0.74099	GCC	EPHX3	-	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	ENSG00000105131		0.577	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EPHX3	HGNC	protein_coding	OTTHUMT00000465797.1	-	0	52	0	G	NM_024794		15341862	-1	tier1	-	no_errors	ENST00000221730	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.521	A	A	15341862	G	A	15341862	3	1	178	1	0	0	0	0	1	0	0	0	5197	1203	42	3	571	3	EPHX3	19	15341862	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	1973496	15341862	43787121	195	44398											
MEGF8	1954	genome.wustl.edu	37	chr19	42873013	42873013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctgacatgtgggcgtcCgggggcctcctgggccttcc	3	8	17	13	2	0	1	0	1	0	0	3	1	3	1	5	5	0	1	5	5	0	1	rs372350131		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:42873013C>T	ENST00000251268.6	+	37	6500	c.6500C>T	c.(6499-6501)cCg>cTg	p.P2167L	MEGF8_ENST00000334370.4_Missense_Mutation_p.P2100L|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2167	PSI 7.				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)				TGTGGGCGTCCGGGGGCCTCC	0.642													C|||	1	0.000199681	0	0	5008	,	,		17485	0		0	False		,,,				2504	0.001																0								C	LEU/PRO	0,4406		0,0,2203	74	85	82		6299	4.8	0.8	19		82	2,8598	2.2+/-6.3	0,2,4298	no	missense	MEGF8	NM_001410.2	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	2100/2779	42873013	2,13004	2203	4300	6503	SO:0001583	missense	0			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.6500C>T	19.37:g.42873013C>T	ENSP00000251268:p.Pro2167Leu		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.P2167L	ENST00000251268.6	37	c.6500		19	.	.	.	.	.	.	.	.	.	.	C	0.247	-1.009571	0.02095	0.0	2.33E-4	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21543	2.0;2.0	4.76	4.76	0.60689	.	0.644418	0.14934	N	0.289912	T	0.14270	0.0345	N	0.19112	0.55	0.20307	N	0.999919	P;P	0.41673	0.618;0.759	B;B	0.36504	0.044;0.226	T	0.12553	-1.0543	10	0.27785	T	0.31	-3.8695	15.0698	0.72026	0.0:1.0:0.0:0.0	.	2167;2100	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	L	2100;2167	ENSP00000334219:P2100L;ENSP00000251268:P2167L	ENSP00000251268:P2167L	P	+	2	0	MEGF8	47564853	0.002000	0.14202	0.842000	0.33263	0.070000	0.16714	1.456000	0.35201	2.375000	0.81037	0.561000	0.74099	CCG	MEGF8	-	smart_Plexin-like_fold	ENSG00000105429		0.642	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	-	0	81	0	C	NM_001410		42873013	1	tier1	-	no_errors	ENST00000251268	ensembl	human	known	74_37	missense	7.50	74	6	SNP	0.138	T	T	42873013	C	T	42873013	3	4	178	1	0	0	0	0	1	0	0	0	9501	652	23	1	6441	1	MEGF8	19	42873013	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	27531151	42873013	16255970	196	44399											
ZNF836	162962	genome.wustl.edu	37	chr19	52659498	52659498	+	Missense_Mutation	SNP	T	T	A	0	1	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	cacaagatgtgaagtctgacTgaagaccttgccacattcat	13	10	8	10	0	2	5	1	3	1	2	2	5	2	5	2	0	1	0	2	0	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:52659498T>A	ENST00000322146.8	-	5	1959	c.1438A>T	c.(1438-1440)Agt>Tgt	p.S480C	ZNF836_ENST00000597252.1_Missense_Mutation_p.S480C|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	480					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						GAAGTCTGACTGAAGACCTTG	0.428																																																	0													112	116	115					19																	52659498		2203	4300	6503	SO:0001583	missense	0			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.1438A>T	19.37:g.52659498T>A	ENSP00000325038:p.Ser480Cys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S480C	ENST00000322146.8	37	c.1438	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542373	0.27563	.	.	ENSG00000196267	ENST00000322146	T	0.08102	3.13	2.15	-3.18	0.05186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13372	0.0324	L	0.53780	1.695	0.09310	N	1	D	0.71674	0.998	P	0.61201	0.885	T	0.10660	-1.0620	9	0.46703	T	0.11	.	1.071	0.01621	0.1586:0.3404:0.1754:0.3257	.	480	Q6ZNA1	ZN836_HUMAN	C	480	ENSP00000325038:S480C	ENSP00000325038:S480C	S	-	1	0	ZNF836	57351310	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.726000	0.04936	-0.771000	0.04608	-0.516000	0.04426	AGT	ZNF836	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196267		0.428	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	-	0	67	0	T	NM_001102657		52659498	-1	tier1	-	no_errors	ENST00000322146	ensembl	human	known	74_37	missense	24.69	61	20	SNP	0.000	A	A	52659498	T	A	52659498	3	1	178	1	0	0	0	0	1	0	0	0	18235	1580	55	5	1374	5	ZNF836	19	52659498	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	9786485	52659498	6469485	197	44400											
TMC4	147798	genome.wustl.edu	37	chr19	54664700	54664700	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctcagggaggctggaaaTagactcagggatctgggccc	9	7	16	9	0	3	1	2	0	2	1	4	4	3	4	1	6	0	1	1	6	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:54664700T>C	ENST00000376591.4	-	13	2037	c.1906A>G	c.(1906-1908)Att>Gtt	p.I636V	LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000416963.1_Missense_Mutation_p.I218V|TMC4_ENST00000301187.4_Missense_Mutation_p.I630V	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	636					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)					AGGCTGGAAATAGACTCAGGG	0.577																																																	0													53	61	58					19																	54664700		2203	4300	6503	SO:0001583	missense	0			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.1906A>G	19.37:g.54664700T>C	ENSP00000365776:p.Ile636Val		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.I630V	ENST00000376591.4	37	c.1888	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	T	11.45	1.641222	0.29157	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.72282	-0.63;-0.64;-0.63	4.86	4.86	0.63082	.	0.210963	0.49305	D	0.000153	T	0.60547	0.2277	L	0.37750	1.13	0.31830	N	0.624875	P;B;P	0.36027	0.533;0.072;0.51	B;B;B	0.38683	0.094;0.111;0.279	T	0.62001	-0.6946	10	0.11182	T	0.66	-12.9508	13.792	0.63148	0.0:0.0:0.0:1.0	.	636;630;218	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	V	630;218;636	ENSP00000301187:I630V;ENSP00000405023:I218V;ENSP00000365776:I636V	ENSP00000301187:I630V	I	-	1	0	TMC4	59356512	0.995000	0.38212	0.033000	0.17914	0.980000	0.70556	2.991000	0.49409	1.984000	0.57885	0.529000	0.55759	ATT	TMC4	-	NULL	ENSG00000167608		0.577	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	-	0	34	0	T			54664700	-1	tier1	-	no_errors	ENST00000301187	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.979	C	C	54664700	T	C	54664700	3	2	178	1	0	0	0	0	1	0	0	0	16034	1406	49	4	244	4	TMC4	19	54664700	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	2005202	54664700	4464283	198	44401											
LILRB1	10859	genome.wustl.edu	37	chr19	55146736	55146736	+	Missense_Mutation	SNP	A	A	T	1	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	cccagctgccgatgcccaggAagaaaacctctgtgagtgag	11	6	12	12	1	1	3	0	2	1	1	1	5	1	4	4	1	4	1	4	1	3	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:55146736A>T	ENST00000396331.1	+	13	1943	c.1586A>T	c.(1585-1587)gAa>gTa	p.E529V	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Missense_Mutation_p.E530V|LILRB1_ENST00000396327.3_Missense_Mutation_p.E530V|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.K504*|LILRB1_ENST00000324602.7_Missense_Mutation_p.E530V|LILRB1_ENST00000434867.2_Missense_Mutation_p.E529V|LILRB1_ENST00000418536.2_Missense_Mutation_p.E513V|LILRB1_ENST00000396332.4_Missense_Mutation_p.E529V|LILRB1_ENST00000396317.1_Missense_Mutation_p.E513V|LILRB1_ENST00000427581.2_Missense_Mutation_p.E579V|LILRB1_ENST00000396321.2_Missense_Mutation_p.E529V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	529					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)		GATGCCCAGGAAGAAAACCTC	0.617										HNSCC(37;0.09)																																							0													63	71	68					19																	55146736		2203	4299	6502	SO:0001583	missense	0			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.1586A>T	19.37:g.55146736A>T	ENSP00000379622:p.Glu529Val		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Nonsense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.K504*	ENST00000396331.1	37	c.1510	CCDS42617.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.99|16.99	3.273913|3.273913	0.59649|0.59649	.|.	.|.	ENSG00000104972|ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315|ENST00000448689	T;T;T;T;T;T;T;T;T;T|.	0.00543|.	6.89;6.85;6.89;6.83;6.8;6.89;6.89;6.68;6.85;6.8|.	1.35|1.35	1.35|1.35	0.21983|0.21983	.|.	.|.	.|.	.|.	.|.	T|.	0.57489|.	0.2057|.	M|M	0.85859|0.85859	2.78|2.78	0.09310|0.09310	N|N	1|1	P;B;D;D;D;D|.	0.76494|.	0.885;0.112;0.999;0.992;0.999;0.999|.	P;B;D;P;D;D|.	0.69824|.	0.521;0.05;0.966;0.889;0.966;0.959|.	T|.	0.52990|.	-0.8501|.	9|.	0.87932|0.87932	D|D	0|0	.|.	4.8162|4.8162	0.13367|0.13367	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	513;529;530;529;530;529|.	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6|.	.;.;.;.;.;LIRB1_HUMAN|.	V|X	529;513;529;530;530;529;529;579;513;530|504	ENSP00000379614:E529V;ENSP00000391514:E513V;ENSP00000379622:E529V;ENSP00000379618:E530V;ENSP00000315997:E530V;ENSP00000405243:E529V;ENSP00000379623:E529V;ENSP00000395004:E579V;ENSP00000379610:E513V;ENSP00000379608:E530V|.	ENSP00000315997:E530V|ENSP00000410165:K504X	E|K	+|+	2|1	0|0	LILRB1|LILRB1	59838548|59838548	0.353000|0.353000	0.24904|0.24904	0.020000|0.020000	0.16555|0.16555	0.071000|0.071000	0.16799|0.16799	1.688000|1.688000	0.37690|0.37690	0.864000|0.864000	0.35578|0.35578	0.172000|0.172000	0.16884|0.16884	GAA|AAG	LILRB1	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000104972		0.617	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	HGNC	protein_coding	OTTHUMT00000140796.4	-	0	62	0	A			55146736	1	tier1	-	no_errors	ENST00000421584	ensembl	human	known	74_37	nonsense	27.63	55	21	SNP	0.025	T	T	55146736	A	T	55146736	3	4	178	1	0	0	0	0	1	0	0	0	8819	246	9	5	1631	5	LILRB1	19	55146736	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	482036	55146736	3982247	199	44402											
ZNF772	400720	genome.wustl.edu	37	chr19	57986507	57986507	+	Silent	SNP	T	T	A	0	1	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	actatgtgggacatgaaagaTgtatgtcctaagggaaagat	15	10	12	4	0	0	3	0	1	0	2	1	5	1	5	1	2	0	1	1	2	5	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:57986507T>A	ENST00000343280.4	-	4	467	c.207A>T	c.(205-207)acA>acT	p.T69T	AC003005.2_ENST00000595422.1_lincRNA|ZNF772_ENST00000356584.3_Intron|ZNF772_ENST00000427512.2_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000425074.3_Intron|AC004076.9_ENST00000415705.3_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		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)|Lung(386;0.174)		ACATGAAAGATGTATGTCCTA	0.448																																					Melanoma(5;289 436 14293 15924 30817)												0													156	137	143					19																	57986507		2203	4300	6503	SO:0001819	synonymous_variant	0			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.207A>T	19.37:g.57986507T>A			A6NJK9|B4DH56|B4DYS0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T69	ENST00000343280.4	37	c.207	CCDS33133.1	19																																																																																			ZNF772	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197128		0.448	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	HGNC	protein_coding	OTTHUMT00000397447.1	-	0	47	0	T	NM_001024596		57986507	-1	tier1	-	no_errors	ENST00000343280	ensembl	human	known	74_37	silent	20.00	36	9	SNP	0.001	A	A	57986507	T	A	57986507	2	1	178	1	0	0	0	0	0	0	0	1	18193	1451	51	5		5	ZNF772	19	57986507	Silent	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	2839771	57986507	1142476	200	44403											
C19orf18	147685	genome.wustl.edu	37	chr19	58472872	58472872	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataacggtatcctgaggttcTtataaagtgactcgagctgt	11	13	10	7	2	1	2	0	2	1	0	3	3	2	2	1	2	2	3	1	2	5	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:58472872T>C	ENST00000314391.3	-	5	520	c.419A>G	c.(418-420)aAg>aGg	p.K140R		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	140						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.K140R(1)		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)		CCTGAGGTTCTTATAAAGTGA	0.438																																																	1	Substitution - Missense(1)	pancreas(1)											144	129	134					19																	58472872		2203	4300	6503	SO:0001583	missense	0			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.419A>G	19.37:g.58472872T>C	ENSP00000321519:p.Lys140Arg			Missense_Mutation	SNP	NULL	p.K140R	ENST00000314391.3	37	c.419	CCDS12967.1	19	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293276	0.23564	.	.	ENSG00000177025	ENST00000314391	T	0.59083	0.29	4.14	2.05	0.26809	.	0.648102	0.13359	N	0.393805	T	0.39809	0.1092	N	0.24115	0.695	0.18873	N	0.999988	B	0.20550	0.046	B	0.23716	0.048	T	0.27157	-1.0082	10	0.40728	T	0.16	-3.1869	5.8605	0.18745	0.0:0.2139:0.0:0.7861	.	140	Q8NEA5	CS018_HUMAN	R	140	ENSP00000321519:K140R	ENSP00000321519:K140R	K	-	2	0	C19orf18	63164684	0.946000	0.32159	0.546000	0.28166	0.002000	0.02628	1.495000	0.35627	0.387000	0.25024	-0.464000	0.05259	AAG	C19orf18	-	NULL	ENSG00000177025		0.438	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf18	HGNC	protein_coding	OTTHUMT00000466704.1		0	23	0	T	NM_152474		58472872	-1			no_errors	ENST00000314391	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.690	C	C	58472872	T	C	58472872	3	2	178	1	0	0	0	0	1	0	0	0	1917	1609	56	4	236	4	C19orf18	19	58472872	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	486365	58472872	656111	201	44404											
ZNF135	7694	genome.wustl.edu	37	chr19	58578877	58578877	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggcaaagcatccacctcaCccagcatctgcgaatccaca	12	5	6	18	2	2	0	1	0	1	0	4	1	4	0	5	1	3	3	5	1	2	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr19:58578877C>A	ENST00000313434.5	+	5	1126	c.1025C>A	c.(1024-1026)aCc>aAc	p.T342N	ZNF135_ENST00000506786.1_Missense_Mutation_p.T300N|ZNF135_ENST00000401053.4_Missense_Mutation_p.T366N|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Missense_Mutation_p.T354N|ZNF135_ENST00000439855.2_Missense_Mutation_p.T342N|ZNF135_ENST00000511556.1_Missense_Mutation_p.T354N	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	342					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATCCACCTCACCCAGCATCTG	0.562																																																	0													52	45	47					19																	58578877		2203	4300	6503	SO:0001583	missense	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1025C>A	19.37:g.58578877C>A	ENSP00000321406:p.Thr342Asn		B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T366N	ENST00000313434.5	37	c.1097		19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.181|1.181	-0.638244|-0.638244	0.03557|0.03557	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T;T	.|0.07327	.|3.2;3.2;3.2;3.2;3.2;3.2	3.19|3.19	2.02|2.02	0.26589|0.26589	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.07007|0.07007	0.0178|0.0178	N|N	0.11106|0.11106	0.095|0.095	0.09310|0.09310	N|N	1|1	.|B;P;P	.|0.46987	.|0.027;0.888;0.586	.|B;P;B	.|0.52672	.|0.056;0.706;0.303	T|T	0.33445|0.33445	-0.9868|-0.9868	5|9	.|0.37606	.|T	.|0.19	.|.	3.7174|3.7174	0.08444|0.08444	0.3402:0.527:0.0:0.1328|0.3402:0.527:0.0:0.1328	.|.	.|354;342;354	.|E9PEV2;P52742;Q8N1I7	.|.;ZN135_HUMAN;.	T|N	360|354;366;354;342;342;354;300	.|ENSP00000441410:T366N;ENSP00000369437:T354N;ENSP00000444828:T342N;ENSP00000321406:T342N;ENSP00000422074:T354N;ENSP00000427691:T300N	.|ENSP00000321406:T342N	P|T	+|+	1|2	0|0	ZNF135|ZNF135	63270689|63270689	0.000000|0.000000	0.05858|0.05858	0.995000|0.995000	0.50966|0.50966	0.027000|0.027000	0.11550|0.11550	-0.963000|-0.963000	0.03837|0.03837	1.794000|1.794000	0.52575|0.52575	0.563000|0.563000	0.77884|0.77884	CCC|ACC	ZNF135	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176293		0.562	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2	-	0	67	0	C	NM_003436		58578877	1	tier1	-	no_errors	ENST00000401053	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.020	A	A	58578877	C	A	58578877	3	1	178	1	0	0	0	0	1	0	0	0	17773	507	18	3	1228	3	ZNF135	19	58578877	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	106005	58578877	550106	202	44405											
FERMT1	55612	genome.wustl.edu	37	chr20	6091160	6091160	+	Splice_Site	SNP	T	T	A	0	1	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	ctgtataaaccaggacttacTgcaaggcagggggatcaaga	14	7	12	8	0	1	1	1	0	0	1	1	3	1	3	1	4	3	3	1	4	6	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:6091160T>A	ENST00000217289.4	-	5	1321		c.e5-2		FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1						cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CAGGACTTACTGCAAGGCAGG	0.383																																																	0													134	131	132					20																	6091160		2203	4300	6503	SO:0001630	splice_region_variant	0			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.533-2A>T	20.37:g.6091160T>A			D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Splice_Site	SNP	-	e4-2	ENST00000217289.4	37	c.533-2	CCDS13098.1	20	.	.	.	.	.	.	.	.	.	.	T	16.21	3.057608	0.55325	.	.	ENSG00000101311	ENST00000217289;ENST00000339538	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.162	0.81727	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FERMT1	6039160	1.000000	0.71417	0.999000	0.59377	0.658000	0.38924	5.841000	0.69409	2.224000	0.72417	0.533000	0.62120	.	FERMT1	-	-	ENSG00000101311		0.383	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	HGNC	protein_coding	OTTHUMT00000077908.2	-	0	31	0	T	NM_017671	Intron	6091160	-1	tier1	-	no_errors	ENST00000217289	ensembl	human	known	74_37	splice_site	11.43	31	4	SNP	1.000	A	A	6091160	T	A	6091160	5	1	178	1	0	0	0	0	0	0	1	0	5839	1594	55	5	1546	5	FERMT1	20	6091160	Splice_Site	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09		6091160	56934360	203	44406											
BMP2	650	genome.wustl.edu	37	chr20	6750872	6750872	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctgggccgcaggaagttCgcggcggcgtcgtcgggccg	4	5	20	12	8	0	0	0	0	0	0	3	2	0	1	2	5	1	3	2	5	1	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:6750872C>T	ENST00000378827.4	+	2	1318	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	33					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						GCAGGAAGTTCGCGGCGGCGT	0.687																																																	0													14	16	15					20																	6750872		2188	4286	6474	SO:0001819	synonymous_variant	0				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.99C>T	20.37:g.6750872C>T				Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.F33	ENST00000378827.4	37	c.99	CCDS13099.1	20																																																																																			BMP2	-	NULL	ENSG00000125845		0.687	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP2	HGNC	protein_coding	OTTHUMT00000077918.3	-	0	53	0	C			6750872	1	tier1	-	no_errors	ENST00000378827	ensembl	human	known	74_37	silent	8.33	55	5	SNP	1.000	T	T	6750872	C	T	6750872	2	4	178	1	0	0	0	0	0	0	0	1	1461	883	31	1		1	BMP2	20	6750872	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	659712	6750872	56274648	204	44407											
MACROD2	140733	genome.wustl.edu	37	chr20	15967423	15967423	+	Missense_Mutation	SNP	A	A	G	1	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	aaaaattgaaacagaatcgcAgagctcatatatggaaacag	20	7	8	6	1	1	3	1	1	0	2	2	4	1	4	0	1	3	2	0	1	7	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:15967423A>G	ENST00000310348.4	+	14	1037	c.1037A>G	c.(1036-1038)cAg>cGg	p.Q346R	MACROD2_ENST00000402914.1_Missense_Mutation_p.Q111R|MACROD2_ENST00000217246.4_Missense_Mutation_p.Q346R|MACROD2_ENST00000378058.3_Missense_Mutation_p.Q111R|MACROD2_ENST00000407045.3_5'UTR			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	346	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ACAGAATCGCAGAGCTCATAT	0.318																																																	0													71	67	69					20																	15967423		2203	4300	6503	SO:0001583	missense	0			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.1037A>G	20.37:g.15967423A>G	ENSP00000309809:p.Gln346Arg		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	p.Q346R	ENST00000310348.4	37	c.1037	CCDS13120.2	20	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895650	0.33442	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.51817	2.27;2.25;0.69;0.69	5.92	4.81	0.61882	.	0.133762	0.34932	N	0.003569	T	0.47340	0.1440	L	0.47716	1.5	0.22827	N	0.998683	P;P	0.46656	0.813;0.882	B;P	0.46825	0.328;0.528	T	0.41179	-0.9523	10	0.54805	T	0.06	-3.2654	11.502	0.50444	0.8441:0.1559:0.0:0.0	.	346;346	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	R	346;346;111;111	ENSP00000217246:Q346R;ENSP00000309809:Q346R;ENSP00000385290:Q111R;ENSP00000367297:Q111R	ENSP00000217246:Q346R	Q	+	2	0	MACROD2	15915423	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.722000	0.54948	1.050000	0.40346	0.477000	0.44152	CAG	MACROD2	-	NULL	ENSG00000172264		0.318	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		-	0	46	0	A	NM_080676		15967423	1	tier1	-	no_errors	ENST00000310348	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	G	G	15967423	A	G	15967423	3	3	178	1	0	0	0	0	1	0	0	0	9182	188	7	4	1091	4	MACROD2	20	15967423	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	9216551	15967423	47058097	205	44408											
HM13	81502	genome.wustl.edu	37	chr20	30126009	30126009	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggagtacatcaacctcCtgctgtccatgtatttcttc	8	13	6	14	0	2	0	1	0	1	0	5	1	4	1	4	1	3	3	4	1	3	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:30126009C>T	ENST00000340852.5	+	3	434	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	HM13_ENST00000398174.3_Silent_p.L104L|HM13_ENST00000376127.3_Silent_p.L104L|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000335574.5_Silent_p.L104L	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	104					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)			CATCAACCTCCTGCTGTCCAT	0.507																																																	0													146	124	131					20																	30126009		2203	4300	6503	SO:0001819	synonymous_variant	0			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.310C>T	20.37:g.30126009C>T			B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Silent	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.L104	ENST00000340852.5	37	c.310	CCDS13182.1	20																																																																																			HM13	-	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	ENSG00000101294		0.507	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	HGNC	protein_coding	OTTHUMT00000078527.2	-	0	44	0	C	NM_178580		30126009	1	tier1	-	no_errors	ENST00000398174	ensembl	human	known	74_37	silent	25.58	32	11	SNP	1.000	T	T	30126009	C	T	30126009	2	4	178	1	0	0	0	0	0	0	0	1	7244	680	24	3		3	HM13	20	30126009	Silent	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	14158586	30126009	32899511	206	44409											
L3MBTL	26013	genome.wustl.edu	37	chr20	42169415	42169415	+	Missense_Mutation	SNP	T	T	C	0	1	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	cttcggctttgttcagacccTgacaggttgtgaggaccaag	8	11	12	10	1	1	3	1	2	0	1	2	4	1	4	2	3	0	3	2	3	1	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:42169415T>C	ENST00000427442.2	+	21	2447	c.2288T>C	c.(2287-2289)cTg>cCg	p.L763P	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.L695P|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.L695P|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.L763P|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.L700P			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	695					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						GTTCAGACCCTGACAGGTTGT	0.552																																																	0													124	86	99					20																	42169415		2203	4300	6503	SO:0001583	missense	0			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.2288T>C	20.37:g.42169415T>C	ENSP00000402107:p.Leu763Pro		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt	p.L763P	ENST00000427442.2	37	c.2288	CCDS46602.2	20	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869962	0.72065	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.57752	0.74;0.74;0.67;0.7;0.64;0.38	4.9	3.78	0.43462	.	0.000000	0.56097	D	0.000021	T	0.78654	0.4317	H	0.95539	3.685	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;0.999;0.994;0.998	T	0.82118	-0.0615	10	0.87932	D	0	.	10.8853	0.46964	0.0:0.0:0.1583:0.8417	.	763;347;83;695;695	Q9Y468-5;Q9Y468-3;Q6ZWF5;Q9Y468-2;Q9Y468-1	.;.;.;.;.	P	763;763;695;695;700;481;347	ENSP00000402107:L763P;ENSP00000398516:L763P;ENSP00000362227:L695P;ENSP00000403316:L695P;ENSP00000362226:L700P;ENSP00000410139:L481P	ENSP00000362225:L347P	L	+	2	0	L3MBTL1	41602829	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.954000	0.70298	0.690000	0.31570	0.455000	0.32223	CTG	L3MBTL1	-	superfamily_SAM/pointed	ENSG00000185513		0.552	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3	-	0	57	0	T	NM_032107		42169415	1	tier1	-	no_errors	ENST00000418998	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	C	C	42169415	T	C	42169415	3	2	178	1	0	0	0	0	1	0	0	0	8619	1580	55	4	2154	4	L3MBTL	20	42169415	Missense_Mutation	SNP	T	TCGA-XP-A8T6-01A-11D-A36J-09	12043406	42169415	20856105	207	44410											
TMEM189	387522	genome.wustl.edu	37	chr20	48746215	48746215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgtggtgctcccggaaggGtcggatgaaagcctggagtt	9	9	16	7	2	0	1	0	1	0	0	2	4	1	4	2	5	2	2	2	5	3	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr20:48746215G>T	ENST00000341698.2	-	4	345	c.346C>A	c.(346-348)Ccc>Acc	p.P116T	TMEM189_ENST00000371652.4_Missense_Mutation_p.P116T|TMEM189_ENST00000557021.1_Missense_Mutation_p.P116T|TMEM189_ENST00000371650.5_Missense_Mutation_p.P113T|TMEM189_ENST00000371656.2_Missense_Mutation_p.P41T	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)			TCCCGGAAGGGTCGGATGAAA	0.597																																																	0													182	152	162					20																	48746215		2203	4300	6503	SO:0001583	missense	0			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.346C>A	20.37:g.48746215G>T	ENSP00000344166:p.Pro116Thr			Missense_Mutation	SNP	pfam_KuaUb-conj-enz_UEV1,pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P116T	ENST00000341698.2	37	c.346	CCDS13424.1	20	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876814	0.72180	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371656;ENST00000371652	T;T;T;T	0.54279	0.58;0.58;0.87;0.86	5.36	4.4	0.53042	Kua-ubiquitin conjugating enzyme hybrid, localisation (1);	.	.	.	.	T	0.76062	0.3935	M	0.88842	2.985	0.34204	D	0.673471	P;D;D;P	0.63046	0.883;0.992;0.992;0.59	P;D;D;B	0.68621	0.737;0.959;0.959;0.346	D	0.86597	0.1864	9	0.66056	D	0.02	-4.9249	15.9707	0.80013	0.0:0.1354:0.8646:0.0	.	41;113;116;116	Q5TGE2;Q5TGE1;A5PLL7;G3V2F7	.;.;TM189_HUMAN;.	T	116;116;113;41;116	ENSP00000344166:P116T;ENSP00000450635:P116T;ENSP00000360713:P113T;ENSP00000360715:P116T	ENSP00000360713:P113T	P	-	1	0	TMEM189-UBE2V1;TMEM189	48179622	1.000000	0.71417	0.167000	0.22817	0.853000	0.48598	9.372000	0.97165	1.222000	0.43521	0.491000	0.48974	CCC	TMEM189-UBE2V1	-	pfam_KuaUb-conj-enz_UEV1	ENSG00000124208		0.597	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TMEM189-UBE2V1	HGNC	protein_coding	OTTHUMT00000080532.5	-	0	66	0	G			48746215	-1	tier1	-	no_errors	ENST00000341698	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.994	T	T	48746215	G	T	48746215	3	4	178	1	0	0	0	0	1	0	0	0	16158	1261	44	3	478	3	TMEM189	20	48746215	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	6576800	48746215	14279305	208	44411											
LIPI	149998	genome.wustl.edu	37	chr21	15554181	15554181	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccagcagggtcaagacCtggaaagcaagaaagaaata	17	4	12	8	0	1	3	1	0	0	3	1	4	1	4	2	3	2	2	2	3	6	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr21:15554181C>T	ENST00000536861.1	-	4	541		c.e4-1		LIPI_ENST00000344577.2_Splice_Site			Q6XZB0	LIPI_HUMAN	lipase, member I						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)		GGGTCAAGACCTGGAAAGCAA	0.393																																																	0													75	72	73					21																	15554181		2203	4300	6503	SO:0001630	splice_region_variant	0			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.542-1G>A	21.37:g.15554181C>T			G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Splice_Site	SNP	-	e4-1	ENST00000536861.1	37	c.605-1		21	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584318	0.46110	.	.	ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981;ENST00000400211	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3027	0.94149	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIPI	14476052	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	6.903000	0.75703	2.733000	0.93635	0.655000	0.94253	.	LIPI	-	-	ENSG00000188992		0.393	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	LIPI	HGNC	protein_coding			0	64	0	C	NM_198996	Intron	15554181	-1			no_errors	ENST00000344577	ensembl	human	known	74_37	splice_site	9.52	38	4	SNP	1.000	T	T	15554181	C	T	15554181	5	4	178	1	0	0	0	0	0	0	1	0	8855	695	24	3	869	3	LIPI	21	15554181	Splice_Site	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09		15554181	32575714	209	44412											
SYNJ1	8867	genome.wustl.edu	37	chr21	34011255	34011255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttctgaaggcaagctatggGatgacctgcttcgaggtggt	8	11	14	8	1	1	2	0	2	1	0	2	4	1	3	1	4	2	3	1	4	3	3			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr21:34011255G>T	ENST00000322229.7	-	30	3877	c.3878C>A	c.(3877-3879)tCc>tAc	p.S1293Y	SYNJ1_ENST00000382499.2_Missense_Mutation_p.S1332Y|SYNJ1_ENST00000382491.3_Missense_Mutation_p.S1246Y|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1332Y|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S1277Y			O43426	SYNJ1_HUMAN	synaptojanin 1	1293	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CAAGCTATGGGATGACCTGCT	0.468																																																	0													215	221	219					21																	34011255		2203	4300	6503	SO:0001583	missense	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3878C>A	21.37:g.34011255G>T	ENSP00000322234:p.Ser1293Tyr		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.S1332Y	ENST00000322229.7	37	c.3995	CCDS54484.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.814500|3.814500	0.70912|0.70912	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000418301|ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	.|D;D;D;D;D	.|0.95412	.|-3.07;-3.7;-3.56;-2.78;-2.83	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.209202	.|0.52532	.|D	.|0.000080	D|D	0.97371|0.97371	0.9140|0.9140	M|M	0.63843|0.63843	1.955|1.955	0.54753|0.54753	D|D	0.999981|0.999981	.|D;D;D;D;D	.|0.76494	.|0.971;0.989;0.999;0.999;0.983	.|P;P;D;D;P	.|0.85130	.|0.691;0.768;0.939;0.997;0.837	D|D	0.97692|0.97692	1.0179|1.0179	5|10	.|0.87932	.|D	.|0	.|.	19.8667|19.8667	0.96806|0.96806	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1246;1332;1293;1293;1277	.|B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.|.;.;.;SYNJ1_HUMAN;.	T|Y	114|1246;1277;1332;1332;1293	.|ENSP00000371931:S1246Y;ENSP00000349903:S1277Y;ENSP00000371939:S1332Y;ENSP00000409667:S1332Y;ENSP00000322234:S1293Y	.|ENSP00000322234:S1293Y	P|S	-|-	1|2	0|0	SYNJ1|SYNJ1	32933126|32933126	1.000000|1.000000	0.71417|0.71417	0.855000|0.855000	0.33649|0.33649	0.977000|0.977000	0.68977|0.68977	7.064000|7.064000	0.76721|0.76721	2.773000|2.773000	0.95371|0.95371	0.655000|0.655000	0.94253|0.94253	CCC|TCC	SYNJ1	-	NULL	ENSG00000159082		0.468	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		-	0	94	0	G			34011255	-1	tier1	-	no_errors	ENST00000433931	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	34011255	G	T	34011255	3	4	178	1	0	0	0	0	1	0	0	0	15499	1174	41	3	876	3	SYNJ1	21	34011255	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	18457074	34011255	14118640	210	44413											
KCNJ6	3763	genome.wustl.edu	37	chr21	39086839	39086839	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcatggagatcactgcatgGgtggaaaagaccagggtctc	11	7	14	9	1	2	2	1	0	1	2	3	4	2	3	1	4	1	2	1	4	2	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr21:39086839G>T	ENST00000609713.1	-	3	1210	c.621C>A	c.(619-621)acC>acA	p.T207T	KCNJ6_ENST00000288309.6_Silent_p.T207T|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	207					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCACTGCATGGGTGGAAAAGA	0.502																																					Pancreas(48;379 1118 2936 19024 28214)												0													57	56	57					21																	39086839		1943	4163	6106	SO:0001819	synonymous_variant	0			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.621C>A	21.37:g.39086839G>T			Q3MJ74|Q53WW6	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.T207	ENST00000609713.1	37	c.621	CCDS42927.1	21																																																																																			KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000157542		0.502	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	-	0	76	0	G	NM_002240		39086839	-1	tier1	-	no_errors	ENST00000288309	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.981	T	T	39086839	G	T	39086839	2	4	178	1	0	0	0	0	0	0	0	1	8082	1219	43	3		3	KCNJ6	21	39086839	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	5075584	39086839	9043056	211	44414											
MCM3AP	8888	genome.wustl.edu	37	chr21	47704296	47704296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcgtggccatgtctcCttggggagcgatcctggtcc	3	11	14	13	2	1	0	0	0	1	0	5	2	3	1	4	5	1	1	4	5	0	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr21:47704296C>A	ENST00000397708.1	-	2	1159	c.905G>T	c.(904-906)aGg>aTg	p.R302M	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R302M|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000329319.3_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	302	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)					GCCATGTCTCCTTGGGGAGCG	0.587																																																	0													96	102	100					21																	47704296		2203	4300	6503	SO:0001583	missense	0			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.905G>T	21.37:g.47704296C>A	ENSP00000380820:p.Arg302Met		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R302M	ENST00000397708.1	37	c.905	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765831	0.69878	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.18810	2.19;2.19	5.42	4.53	0.55603	.	0.218911	0.42682	D	0.000663	T	0.23649	0.0572	L	0.32530	0.975	0.36395	D	0.862767	D	0.56521	0.976	P	0.53185	0.72	T	0.08046	-1.0741	10	0.62326	D	0.03	-29.0513	8.3613	0.32361	0.1554:0.7661:0.0:0.0786	.	302	O60318	MCM3A_HUMAN	M	302	ENSP00000380820:R302M;ENSP00000291688:R302M	ENSP00000291688:R302M	R	-	2	0	MCM3AP	46528724	0.996000	0.38824	0.996000	0.52242	0.936000	0.57629	1.878000	0.39608	2.537000	0.85549	0.563000	0.77884	AGG	MCM3AP	-	NULL	ENSG00000160294		0.587	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	-	0	60	0	C	NM_003906		47704296	-1	tier1	-	no_errors	ENST00000291688	ensembl	human	known	74_37	missense	46.34	22	19	SNP	0.938	A	A	47704296	C	A	47704296	3	1	178	1	0	0	0	0	1	0	0	0	9426	681	24	3	5149	3	MCM3AP	21	47704296	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	8617457	47704296	425599	212	44415											
MICAL3	57553	genome.wustl.edu	37	chr22	18347478	18347478	+	Intron	SNP	A	A	G	1	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	tttgcaccagcacctccgacAggccatagagaaaggggact	12	6	11	12	1	0	1	0	0	0	1	1	4	1	2	4	3	2	2	4	3	2	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:18347478A>G	ENST00000441493.2	-	19	2958				MICAL3_ENST00000429452.1_Missense_Mutation_p.L1055P|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.L1055P|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000383094.3_Intron	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						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)		CACCTCCGACAGGCCATAGAG	0.592																																																	0													29	30	30					22																	18347478		1568	3582	5150	SO:0001627	intron_variant	0			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.2605+186T>C	22.37:g.18347478A>G			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.L1055P	ENST00000441493.2	37	c.3164	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	A	11.98	1.800919	0.31869	.	.	ENSG00000093100	ENST00000429452	T	0.70869	-0.52	5.81	5.81	0.92471	.	.	.	.	.	T	0.61961	0.2389	.	.	.	0.40598	D	0.981558	P	0.37864	0.61	B	0.34991	0.193	T	0.67558	-0.5640	8	0.72032	D	0.01	.	9.6907	0.40127	0.741:0.0:0.0:0.259	.	1055	B2RXJ5	.	P	1055	ENSP00000414846:L1055P	ENSP00000414846:L1055P	L	-	2	0	XXbac-B461K10.4	16727478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.718000	0.54919	2.210000	0.71456	0.533000	0.62120	CTG	MICAL3	-	NULL	ENSG00000243156		0.592	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0	53	0	A			18347478	-1	tier1	-	no_errors	ENST00000429452	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	G	G	18347478	A	G	18347478	1	3	178	0	1	0	0	0	0	0	0	0	9609	188	7	4		4	MICAL3	22	18347478	Intron	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09		18347478	32957088	213	44416											
TBX1	6899	genome.wustl.edu	37	chr22	19766827	19766827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggagcttctgagggatgCaggtggctgtgtgaacctgg	7	10	18	6	0	1	2	0	2	1	0	1	4	1	4	1	5	3	3	1	5	1	1	rs149975157		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:19766827C>T	ENST00000329705.7	+	9	1223	c.1094C>T	c.(1093-1095)gCa>gTa	p.A365V	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	365					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CTGAGGGATGCAGGTGGCTGT	0.592																																																	0								C	,VAL/ALA	0,4406		0,0,2203	90	79	83		,1094	-3.9	0	22	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	TBX1	NM_005992.1,NM_080646.1	,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,365/399	19766827	1,13005	2203	4300	6503	SO:0001583	missense	0			AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"T-boxes"	11592	protein-coding gene	gene with protein product		602054	"velocardiofacial syndrome"	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.1094C>T	22.37:g.19766827C>T	ENSP00000331176:p.Ala365Val		C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.A365V	ENST00000329705.7	37	c.1094	CCDS13766.1	22	.	.	.	.	.	.	.	.	.	.	C	8.224	0.803161	0.16397	0.0	1.16E-4	ENSG00000184058	ENST00000329705	D	0.86865	-2.18	1.97	-3.93	0.04143	.	.	.	.	.	T	0.68192	0.2974	N	0.24115	0.695	0.09310	N	1	P	0.44734	0.842	B	0.28849	0.095	T	0.61242	-0.7102	9	0.45353	T	0.12	.	4.5011	0.11865	0.2439:0.4108:0.3453:0.0	.	365	O43435	TBX1_HUMAN	V	365	ENSP00000331176:A365V	ENSP00000331176:A365V	A	+	2	0	TBX1	18146827	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.396000	0.02513	-1.283000	0.02393	-0.884000	0.02946	GCA	TBX1	-	NULL	ENSG00000184058		0.592	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBX1	HGNC	protein_coding	OTTHUMT00000318033.1		0	71	0	C	NM_080647		19766827	1			no_errors	ENST00000329705	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.000	T	T	19766827	C	T	19766827	3	4	178	1	0	0	0	0	1	0	0	0	15697	710	25	3	1607	3	TBX1	22	19766827	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	1419349	19766827	31537739	214	44417											
TOP3B	8940	genome.wustl.edu	37	chr22	22328814	22328814	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggtcccagtgtactcGtggactgagcaggccccgtt	8	8	13	12	2	0	1	0	1	0	0	2	2	1	2	3	3	2	4	3	3	2	2	rs146303944		TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:22328814G>A	ENST00000398793.2	-	3	551	c.117C>T	c.(115-117)caC>caT	p.H39H	TOP3B_ENST00000357179.5_Silent_p.H39H|TOP3B_ENST00000413067.2_De_novo_Start_InFrame	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	39	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CAGTGTACTCGTGGACTGAGC	0.582													G|||	1	0.000199681	0	0	5008	,	,		21094	0		0.001	False		,,,				2504	0																0								G		1,4405	2.1+/-5.4	0,1,2202	102	72	83		117	-5.3	0.6	22	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TOP3B	NM_003935.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		39/863	22328814	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.117C>T	22.37:g.22328814G>A			A0M8Q3|Q9BUP5	Silent	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.H39	ENST00000398793.2	37	c.117	CCDS13797.1	22																																																																																			TOP3B	-	pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain	ENSG00000100038		0.582	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1		0	90	0	G	NM_003935		22328814	-1			no_errors	ENST00000357179	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.331	A	A	22328814	G	A	22328814	2	1	178	1	0	0	0	0	0	0	0	1	16416	1136	40	1		1	TOP3B	22	22328814	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	2561987	22328814	28975752	215	44418											
ZNF70	7621	genome.wustl.edu	37	chr22	24086332	24086332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatttgtagggcttctcGccagtgtgggtcttgcggtg	3	14	16	8	2	2	0	0	0	2	0	3	0	2	0	1	4	1	3	1	4	1	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:24086332G>A	ENST00000341976.3	-	2	1456	c.996C>T	c.(994-996)ggC>ggT	p.G332G		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	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)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGGCTTCTCGCCAGTGTGGG	0.567																																																	0													106	95	99					22																	24086332		2203	4300	6503	SO:0001819	synonymous_variant	0			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.996C>T	22.37:g.24086332G>A				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G332	ENST00000341976.3	37	c.996	CCDS13812.1	22																																																																																			ZNF70	-	pfscan_Znf_C2H2	ENSG00000187792		0.567	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF70	HGNC	protein_coding	OTTHUMT00000319881.1	-	0	56	0	G	NM_021916		24086332	-1	tier1	-	no_errors	ENST00000341976	ensembl	human	known	74_37	silent	22.22	35	10	SNP	0.976	A	A	24086332	G	A	24086332	2	1	178	1	0	0	0	0	0	0	0	1	18151	1074	38	1		1	ZNF70	22	24086332	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	1757518	24086332	27218234	216	44419											
ADORA2A	135	genome.wustl.edu	37	chr22	24837050	24837050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggccatcgtcctctccCacaccaattcggttgtgaat	8	11	7	15	2	1	1	0	1	1	0	5	1	2	1	5	2	0	1	5	2	2	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:24837050C>A	ENST00000337539.7	+	3	1291	c.832C>A	c.(832-834)Cac>Aac	p.H278N	ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_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	278					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)	CGTCCTCTCCCACACCAATTC	0.582																																																	0													100	92	95					22																	24837050		2203	4300	6503	SO:0001583	missense	0			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.832C>A	22.37:g.24837050C>A	ENSP00000336630:p.His278Asn		B2R7E0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.H278N	ENST00000337539.7	37	c.832	CCDS13826.1	22	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746530	0.89663	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.71934	-0.61;-0.61	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86331	0.5907	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88495	0.3078	10	0.62326	D	0.03	-43.225	17.5681	0.87926	0.0:1.0:0.0:0.0	.	278	P29274	AA2AR_HUMAN	N	278	ENSP00000414802:H278N;ENSP00000336630:H278N	ENSP00000336630:H278N	H	+	1	0	ADORA2A	23167050	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.590000	0.82653	2.385000	0.81259	0.462000	0.41574	CAC	ADORA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	ENSG00000128271		0.582	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2A	HGNC	protein_coding	OTTHUMT00000319971.2		0	30	0	C	NM_000675		24837050	1			no_errors	ENST00000337539	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	A	A	24837050	C	A	24837050	3	1	178	1	0	0	0	0	1	0	0	0	327	594	21	3	838	3	ADORA2A	22	24837050	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	750718	24837050	26467516	217	44420											
THOC5	8563	genome.wustl.edu	37	chr22	29939454	29939454	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cttcctttcttcaacctgatGtgggctaatcggttaagctt	7	16	8	10	1	2	1	1	1	1	0	4	1	3	1	2	2	2	3	2	2	3	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:29939454G>T	ENST00000490103.1	-	4	440	c.318C>A	c.(316-318)caC>caA	p.H106Q	THOC5_ENST00000397871.1_Missense_Mutation_p.H106Q|THOC5_ENST00000397872.1_Missense_Mutation_p.H106Q|THOC5_ENST00000397873.2_Missense_Mutation_p.H106Q	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	106	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAACCTGATGTGGGCTAATC	0.418																																																	0													163	160	161					22																	29939454		2203	4300	6503	SO:0001583	missense	0			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.318C>A	22.37:g.29939454G>T	ENSP00000420306:p.His106Gln		O60839|Q9UPZ5	Missense_Mutation	SNP	pfam_THO_Thoc5	p.H106Q	ENST00000490103.1	37	c.318	CCDS13859.1	22	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836615	0.50951	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374	T;T;T;T;T	0.41758	1.98;1.98;1.98;1.98;0.99	5.62	-0.271	0.12922	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	L	0.37561	1.115	0.58432	D	0.999999	B;B	0.30068	0.035;0.267	B;B	0.34385	0.045;0.181	T	0.17868	-1.0355	10	0.62326	D	0.03	-21.1255	10.763	0.46277	0.3182:0.0:0.6818:0.0	.	106;106	F8WCP5;Q13769	.;THOC5_HUMAN	Q	106;106;106;106;106;102;106	ENSP00000420306:H106Q;ENSP00000380970:H106Q;ENSP00000380969:H106Q;ENSP00000380971:H106Q;ENSP00000415425:H102Q	ENSP00000444493:H106Q	H	-	3	2	THOC5	28269454	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.339000	0.33885	0.050000	0.15949	0.557000	0.71058	CAC	THOC5	-	pfam_THO_Thoc5	ENSG00000100296		0.418	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC5	HGNC	protein_coding	OTTHUMT00000322097.1	-	0	72	0	G	NM_003678		29939454	-1	tier1	-	no_errors	ENST00000397871	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	29939454	G	T	29939454	3	4	178	1	0	0	0	0	1	0	0	0	15915	1368	48	3	1801	3	THOC5	22	29939454	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	5102404	29939454	21365112	218	44421											
TRIOBP	11078	genome.wustl.edu	37	chr22	38134718	38134718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgactgaccagaagcagGcagactcggtagctgggtca	10	6	13	12	1	1	4	1	2	0	2	2	4	1	4	2	3	2	4	2	3	2	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:38134718G>A	ENST00000406386.3	+	10	5431	c.5176G>A	c.(5176-5178)Gca>Aca	p.A1726T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1726					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)					CCAGAAGCAGGCAGACTCGGT	0.547																																																	0													46	46	46					22																	38134718		2007	4179	6186	SO:0001583	missense	0			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.5176G>A	22.37:g.38134718G>A	ENSP00000384312:p.Ala1726Thr		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A1726T	ENST00000406386.3	37	c.5176	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422565	0.43020	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.24723	1.84	3.72	1.65	0.23941	.	.	.	.	.	T	0.11495	0.0280	N	0.14661	0.345	0.80722	D	1	B	0.27882	0.192	B	0.21151	0.033	T	0.14952	-1.0454	9	0.22706	T	0.39	.	6.0125	0.19584	0.2354:0.0:0.7646:0.0	.	1726	Q9H2D6	TARA_HUMAN	T	1726;1687	ENSP00000384312:A1726T	ENSP00000384312:A1726T	A	+	1	0	TRIOBP	36464664	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	2.301000	0.43628	0.560000	0.29169	0.462000	0.41574	GCA	TRIOBP	-	NULL	ENSG00000100106		0.547	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	-	0	56	0	G			38134718	1	tier1	-	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	38134718	G	A	38134718	3	1	178	1	0	0	0	0	1	0	0	0	16601	1203	42	3	5206	3	TRIOBP	22	38134718	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	8195264	38134718	13169848	219	44422											
DDX17	10521	genome.wustl.edu	37	chr22	38884008	38884008	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggttccctggggtgaagaaGgtataggcggtacccttgtt	8	11	15	7	1	0	2	0	1	0	1	1	2	1	2	2	6	1	4	2	6	5	6			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:38884008G>T	ENST00000396821.3	-	12	1659	c.1560C>A	c.(1558-1560)acC>acA	p.T520T	DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000432525.1_5'Flank|DDX17_ENST00000381633.3_Silent_p.T443T	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	520	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GGGTGAAGAAGGTATAGGCGG	0.488																																					Ovarian(55;1085 1454 6392 21425)												0													188	165	173					22																	38884008		2203	4300	6503	SO:0001819	synonymous_variant	0			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1560C>A	22.37:g.38884008G>T			B1AHM0|Q69YT1|Q6ICD6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.T520	ENST00000396821.3	37	c.1560	CCDS46706.1	22																																																																																			DDX17	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000100201		0.488	DDX17-001	KNOWN	basic|CCDS	protein_coding	DDX17	HGNC	protein_coding	OTTHUMT00000321476.2	-	0	36	0	G	NM_030881		38884008	-1	tier1	-	no_errors	ENST00000396821	ensembl	human	known	74_37	silent	12.90	27	4	SNP	1.000	T	T	38884008	G	T	38884008	2	4	178	1	0	0	0	0	0	0	0	1	4353	987	35	3		3	DDX17	22	38884008	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	749290	38884008	12420558	220	44423											
TNRC6B	23112	genome.wustl.edu	37	chr22	40718961	40718961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacacctgcagcaaccccaAgtgcgccagctgcggggtgg	8	5	13	15	2	0	0	0	0	0	0	0	0	0	0	4	3	7	3	4	3	3	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:40718961A>G	ENST00000454349.2	+	23	5429	c.5218A>G	c.(5218-5220)Agt>Ggt	p.S1740G	TNRC6B_ENST00000402203.1_Missense_Mutation_p.S936G|TNRC6B_ENST00000335727.9_Missense_Mutation_p.S1630G|TNRC6B_ENST00000301923.9_Missense_Mutation_p.S936G	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1740					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						AGCAACCCCAAGTGCGCCAGC	0.592																																																	0													19	22	21					22																	40718961		1978	4164	6142	SO:0001583	missense	0			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.5218A>G	22.37:g.40718961A>G	ENSP00000401946:p.Ser1740Gly		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.S1740G	ENST00000454349.2	37	c.5218	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	A	6.811	0.518638	0.13005	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.31769	1.48;1.48;2.69;2.7	5.79	5.79	0.91817	.	0.238434	0.43919	D	0.000516	T	0.18087	0.0434	N	0.03608	-0.345	0.35661	D	0.812524	B;B;B	0.34015	0.435;0.135;0.341	B;B;B	0.38500	0.152;0.111;0.275	T	0.36407	-0.9749	10	0.25751	T	0.34	-10.8684	14.6903	0.69080	1.0:0.0:0.0:0.0	.	1740;1630;936	Q9UPQ9;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.	G	936;936;1740;1630;1630	ENSP00000306759:S936G;ENSP00000384795:S936G;ENSP00000401946:S1740G;ENSP00000338371:S1630G	ENSP00000306759:S936G	S	+	1	0	TNRC6B	39048907	0.998000	0.40836	0.107000	0.21349	0.469000	0.32828	4.749000	0.62155	2.201000	0.70794	0.533000	0.62120	AGT	TNRC6B	-	NULL	ENSG00000100354		0.592	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		-	0	50	0	A			40718961	1	tier1	-	no_errors	ENST00000454349	ensembl	human	known	74_37	missense	52.08	23	25	SNP	0.501	G	G	40718961	A	G	40718961	3	3	178	1	0	0	0	0	1	0	0	0	16388	72	3	4	5429	4	TNRC6B	22	40718961	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	1834953	40718961	10585605	221	44424											
CELSR1	9620	genome.wustl.edu	37	chr22	46787669	46787669	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccatgggggaagcagtcGcagggcagacaggtgtcctg	9	5	18	9	1	0	1	0	0	0	1	2	3	1	2	2	4	2	3	2	4	1	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:46787669G>A	ENST00000262738.3	-	15	6008	c.6009C>T	c.(6007-6009)tgC>tgT	p.C2003C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2003	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)		GGAAGCAGTCGCAGGGCAGAC	0.647																																																	0													29	38	35					22																	46787669		2202	4300	6502	SO:0001819	synonymous_variant	0			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.6009C>T	22.37:g.46787669G>A			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.C2003	ENST00000262738.3	37	c.6009	CCDS14076.1	22																																																																																			CELSR1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000075275		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1		0	124	0	G	NM_014246		46787669	-1			no_errors	ENST00000262738	ensembl	human	known	74_37	silent	6.45	87	6	SNP	0.843	A	A	46787669	G	A	46787669	2	1	178	1	0	0	0	0	0	0	0	1	3228	1079	38	1		1	CELSR1	22	46787669	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	6068708	46787669	4516897	222	44425											
SAPS2	9701	genome.wustl.edu	37	chr22	50879410	50879410	+	Frame_Shift_Del	DEL	C	C	-																															caggggtcccggccgggaggCccccccgctgcccacagtgg																										TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:50879410delC	ENST00000216061.5	+	23	2925	c.2555delC	c.(2554-2556)gccfs	p.A852fs	PPP6R2_ENST00000359139.3_Frame_Shift_Del_p.A819fs|PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.A818fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.A819fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	852						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						GGCCGGGAGGCCCCCCCGCTG	0.721																																																	0													16	19	18					22																	50879410		2198	4294	6492	SO:0001589	frameshift_variant	0			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.2555delC	22.37:g.50879410delC	ENSP00000216061:p.Ala852fs		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Del	DEL	pfam_SAPS,superfamily_ARM-type_fold	p.P854fs	ENST00000216061.5	37	c.2555		22																																																																																			PPP6R2	-	NULL	ENSG00000100239		0.721	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1		0	70	0	C	NM_014678		50879410	1	tier1		no_errors	ENST00000216061	ensembl	human	known	74_37	frame_shift_del	5.77	49	3	DEL	0.000	-	-	50879410	C	-	50879410	7	5	178	1	0	1	0	1	0	0	0	0	13882	739	26	0	2527	0	SAPS2	22	50879410	Frame_Shift_Del	DEL	C	TCGA-XP-A8T6-01A-11D-A36J-09	4091741	50879410	425156	223	44426											
CPT1B	1375	genome.wustl.edu	37	chr22	51010669	51010669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggagcatctgcccacGcatgctctgcattgagaccc	8	9	11	13	1	2	2	0	2	2	1	2	4	2	3	2	1	4	4	2	1	0	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chr22:51010669G>A	ENST00000360719.2	-	12	1558	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	CPT1B_ENST00000405237.3_Missense_Mutation_p.A474V|CPT1B_ENST00000434492.2_Missense_Mutation_p.A271V|CPT1B_ENST00000312108.7_Missense_Mutation_p.A474V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.A440V|CPT1B_ENST00000395650.2_Missense_Mutation_p.A474V|CPT1B_ENST00000440709.1_Missense_Mutation_p.A393V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	474					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		ATCTGCCCACGCATGCTCTGC	0.532																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													80	73	75					22																	51010669		2203	4300	6503	SO:0001583	missense	0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1421C>T	22.37:g.51010669G>A	ENSP00000353945:p.Ala474Val		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.A474V	ENST00000360719.2	37	c.1421	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919279	0.73098	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;T;D;T;D	0.90385	-2.66;-2.66;-2.66;-1.49;-2.66;-1.49;-2.66	5.65	5.65	0.86999	.	0.234953	0.44688	D	0.000438	D	0.92476	0.7611	M	0.79258	2.445	0.44234	D	0.997077	D;P;P;P	0.53885	0.963;0.7;0.916;0.916	P;B;B;B	0.47673	0.554;0.39;0.39;0.39	D	0.93438	0.6791	10	0.87932	D	0	-11.775	17.2199	0.86954	0.0:0.0:1.0:0.0	.	393;440;271;474	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	V	474;474;474;440;393;271;474	ENSP00000385486:A474V;ENSP00000312189:A474V;ENSP00000353945:A474V;ENSP00000409342:A440V;ENSP00000414713:A393V;ENSP00000410966:A271V;ENSP00000379011:A474V	ENSP00000312189:A474V	A	-	2	0	CPT1B	49357535	1.000000	0.71417	0.920000	0.36463	0.404000	0.30871	7.493000	0.81493	2.667000	0.90743	0.561000	0.74099	GCG	CPT1B	-	pfam_Carn_acyl_trans	ENSG00000205560		0.532	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	-	0	40	0	G	NM_152246		51010669	-1	tier1	-	no_errors	ENST00000312108	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.994	A	A	51010669	G	A	51010669	3	1	178	1	0	0	0	0	1	0	0	0	3839	1087	38	1	929	1	CPT1B	22	51010669	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	131259	51010669	293897	224	44427											
TLR7	51284	genome.wustl.edu	37	chrX	12905425	12905425	+	Nonsense_Mutation	SNP	A	A	T	1	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	agaacctaaaggttctgcagAaactgatgatgaacgacaat	17	8	9	7	1	1	5	0	3	1	2	1	6	1	5	1	1	4	2	1	1	6	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:12905425A>T	ENST00000380659.3	+	3	1937	c.1798A>T	c.(1798-1800)Aaa>Taa	p.K600*		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	600					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)	GGTTCTGCAGAAACTGATGAT	0.393																																																	0													84	86	85					X																	12905425		2203	4300	6503	SO:0001587	stop_gained	0			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.1798A>T	X.37:g.12905425A>T	ENSP00000370034:p.Lys600*		D1CS69|Q9NR98	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.K600*	ENST00000380659.3	37	c.1798	CCDS14151.1	X	.	.	.	.	.	.	.	.	.	.	A	37	6.360429	0.97502	.	.	ENSG00000196664	ENST00000380659	.	.	.	5.83	5.83	0.93111	.	0.229082	0.38058	N	0.001834	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	15.1787	0.72938	1.0:0.0:0.0:0.0	.	.	.	.	X	600	.	ENSP00000370034:K600X	K	+	1	0	TLR7	12815346	1.000000	0.71417	0.976000	0.42696	0.715000	0.41141	5.246000	0.65411	1.968000	0.57251	0.481000	0.45027	AAA	TLR7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000196664		0.393	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	-	0	67	0	A	NM_016562		12905425	1	tier1	-	no_errors	ENST00000380659	ensembl	human	known	74_37	nonsense	41.82	32	23	SNP	0.981	T	T	12905425	A	T	12905425	4	4	178	1	0	0	0	0	0	1	0	0	16003	247	9	5	1804	5	TLR7	23	12905425	Nonsense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09		12905425	142365135	225	44428											
CXorf22	170063	genome.wustl.edu	37	chrX	35974234	35974234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaatgcgaattacttcCtgtgacgtaccactttaaaa	15	12	5	9	2	1	1	1	1	0	0	2	2	2	1	2	0	3	1	2	0	7	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:35974234C>A	ENST00000297866.5	+	8	1397	c.1331C>A	c.(1330-1332)cCt>cAt	p.P444H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	444										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						GAATTACTTCCTGTGACGTAC	0.363																																																	0													65	60	62					X																	35974234		2202	4300	6502	SO:0001583	missense	0			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.1331C>A	X.37:g.35974234C>A	ENSP00000297866:p.Pro444His		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.P444H	ENST00000297866.5	37	c.1331	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377412	0.42105	.	.	ENSG00000165164	ENST00000297866	T	0.61980	0.06	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	M	0.78049	2.395	0.40397	D	0.979609	D	0.89917	1.0	D	0.97110	1.0	T	0.83293	-0.0032	10	0.72032	D	0.01	-19.5088	16.9801	0.86325	0.0:1.0:0.0:0.0	.	444	Q6ZTR5	CX022_HUMAN	H	444	ENSP00000297866:P444H	ENSP00000297866:P444H	P	+	2	0	CXorf22	35884155	1.000000	0.71417	0.941000	0.38009	0.015000	0.08874	5.481000	0.66826	2.305000	0.77605	0.600000	0.82982	CCT	CXorf22	-	NULL	ENSG00000165164		0.363	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2		0	75	0	C	NM_152632		35974234	1			no_errors	ENST00000297866	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	35974234	C	A	35974234	3	1	178	1	0	0	0	0	1	0	0	0	4111	681	24	3	1361	3	CXorf22	23	35974234	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	23068809	35974234	119296326	226	44429											
CDK16	5127	genome.wustl.edu	37	chrX	47088143	47088143	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccacaggcaggccagctttCcgcgtggtggacaccgagtt	7	7	13	14	3	0	0	0	0	0	0	1	2	1	1	4	4	1	3	4	4	0	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:47088143C>G	ENST00000357227.4	+	16	1891	c.1467C>G	c.(1465-1467)ttC>ttG	p.F489L	CDK16_ENST00000457458.2_Missense_Mutation_p.F495L|CDK16_ENST00000276052.6_Missense_Mutation_p.F563L|CDK16_ENST00000518022.1_Missense_Mutation_p.F489L	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	489					exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GGCCAGCTTTCCGCGTGGTGG	0.632																																																	0													99	66	77					X																	47088143		2203	4300	6503	SO:0001583	missense	0				CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"Cyclin-dependent kinases"	8749	protein-coding gene	gene with protein product	"serine/threonine-protein kinase"	311550	"PCTAIRE protein kinase 1"	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.1467C>G	X.37:g.47088143C>G	ENSP00000349762:p.Phe489Leu		A8K280|B7Z7C8|J3KN74|J3KQP7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F563L	ENST00000357227.4	37	c.1689	CCDS14276.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.16|14.16	2.453312|2.453312	0.43531|0.43531	.|.	.|.	ENSG00000102225|ENSG00000102225	ENST00000457458;ENST00000357227;ENST00000540877;ENST00000540311;ENST00000518022;ENST00000276052;ENST00000523344|ENST00000520141	T;T;T;T;T|.	0.74632|.	-0.41;-0.4;-0.4;-0.45;-0.86|.	6.04|6.04	4.28|4.28	0.50868|0.50868	.|.	0.407398|.	0.27735|.	N|.	0.018063|.	T|T	0.44767|0.44767	0.1309|0.1309	L|L	0.29908|0.29908	0.895|0.895	0.36435|0.36435	D|D	0.865168|0.865168	B;B;B|.	0.14438|.	0.001;0.001;0.01|.	B;B;B|.	0.14023|.	0.001;0.002;0.01|.	T|T	0.45687|0.45687	-0.9244|-0.9244	10|5	0.25106|.	T|.	0.35|.	-12.7795|-12.7795	9.568|9.568	0.39411|0.39411	0.0:0.8316:0.0:0.1684|0.0:0.8316:0.0:0.1684	.|.	563;594;489|.	B7Z7C8;B7Z8T0;Q00536|.	.;.;CDK16_HUMAN|.	L|C	495;489;594;441;489;563;253|84	ENSP00000405798:F495L;ENSP00000349762:F489L;ENSP00000429751:F489L;ENSP00000276052:F563L;ENSP00000428349:F253L|.	ENSP00000276052:F563L|.	F|S	+|+	3|2	2|0	CDK16|CDK16	46973087|46973087	0.957000|0.957000	0.32711|0.32711	0.978000|0.978000	0.43139|0.43139	0.994000|0.994000	0.84299|0.84299	0.045000|0.045000	0.14013|0.14013	0.672000|0.672000	0.31204|0.31204	0.513000|0.513000	0.50165|0.50165	TTC|TCC	CDK16	-	NULL	ENSG00000102225		0.632	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK16	HGNC	protein_coding	OTTHUMT00000056406.2	-	0	15	0	C	NM_006201		47088143	1	tier1	-	no_errors	ENST00000276052	ensembl	human	known	74_37	missense	53.85	6	7	SNP	1.000	G	G	47088143	C	G	47088143	3	3	178	1	0	0	0	0	1	0	0	0	3139	854	30	5	1767	5	CDK16	23	47088143	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	11113909	47088143	108182417	227	44430											
PQBP1	10084	genome.wustl.edu	37	chrX	48759676	48759676	+	Missense_Mutation	SNP	A	A	C	1	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	gacaaggtagacagagagagAgagcgagacagggaacggga	17	1	18	5	2	0	5	0	0	0	5	0	11	0	7	0	3	2	1	0	3	3	1			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:48759676A>C	ENST00000376563.1	+	5	659	c.459A>C	c.(457-459)agA>agC	p.R153S	PQBP1_ENST00000247140.4_Intron|PQBP1_ENST00000218224.4_Missense_Mutation_p.R153S|PQBP1_ENST00000376566.4_Intron|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000396763.1_Missense_Mutation_p.R153S|PQBP1_ENST00000447146.2_Missense_Mutation_p.R153S	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	153	7 X 2 AA tandem repeats of [DE]-R.|Arg-rich.|Intrinsically disordered.				alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						ACAGAGAGAGAGAGCGAGACA	0.617																																																	0			GRCh37	CD033719	PQBP1	D							57	38	44					X																	48759676		2201	4298	6499	SO:0001583	missense	0			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"Sutherland-Haan X-linked mental retardation syndrome", "mental retardation, X-linked 55", "mental retardation, X-linked 2 (non-dysmorphic)"	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.459A>C	X.37:g.48759676A>C	ENSP00000365747:p.Arg153Ser		Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.R153S	ENST00000376563.1	37	c.459	CCDS14309.1	X	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804549	0.31869	.	.	ENSG00000102103	ENST00000376563;ENST00000447146;ENST00000218224;ENST00000396763;ENST00000443648	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.07	5.15	1.28	0.21552	.	0.170811	0.45126	D	0.000382	T	0.68540	0.3012	L	0.29908	0.895	0.80722	D	1	P;P;D;P	0.56035	0.939;0.948;0.974;0.9	P;P;P;B	0.53649	0.556;0.452;0.731;0.354	T	0.62210	-0.6902	10	0.13108	T	0.6	-13.5198	6.0458	0.19760	0.5737:0.0:0.4263:0.0	.	153;153;153;153	O60828-2;C9JQA1;O60828-3;O60828	.;.;.;PQBP1_HUMAN	S	153	ENSP00000365747:R153S;ENSP00000391759:R153S;ENSP00000218224:R153S;ENSP00000379985:R153S;ENSP00000414861:R153S	ENSP00000218224:R153S	R	+	3	2	PQBP1	48644620	0.906000	0.30813	0.996000	0.52242	0.969000	0.65631	0.153000	0.16323	0.231000	0.21079	0.486000	0.48141	AGA	PQBP1	-	NULL	ENSG00000102103		0.617	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	PQBP1	HGNC	protein_coding	OTTHUMT00000060777.1	-	0	22	0	A	NM_001032381.1		48759676	1	tier1	-	no_errors	ENST00000218224	ensembl	human	known	74_37	missense	63.16	7	12	SNP	1.000	C	C	48759676	A	C	48759676	3	2	178	1	0	0	0	0	1	0	0	0	12459	301	11	4	473	4	PQBP1	23	48759676	Missense_Mutation	SNP	A	TCGA-XP-A8T6-01A-11D-A36J-09	1671533	48759676	106510884	228	44431											
KIAA1210	57481	genome.wustl.edu	37	chrX	118221250	118221250	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ccactctttaggagaactggCagaaacaggggagacttttt	12	10	11	8	0	1	3	0	0	1	3	1	5	1	3	1	4	2	1	1	4	3	4			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:118221250C>A	ENST00000402510.2	-	11	3942	c.3943G>T	c.(3943-3945)Gcc>Tcc	p.A1315S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1315										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGAGAACTGGCAGAAACAGGG	0.488																																																	0													138	129	132					X																	118221250		1851	4091	5942	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3943G>T	X.37:g.118221250C>A	ENSP00000384670:p.Ala1315Ser		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.A1315S	ENST00000402510.2	37	c.3943	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.258|3.258	-0.151888|-0.151888	0.06585|0.06585	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.10573|.	2.86|.	3.52|3.52	1.63|1.63	0.23807|0.23807	.|.	.|.	.|.	.|.	.|.	T|T	0.23133|0.23133	0.0559|0.0559	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.36837|.	0.571|.	B|.	0.31946|.	0.138|.	T|T	0.22765|0.22765	-1.0207|-1.0207	9|5	0.11485|.	T|.	0.65|.	.|.	3.7998|3.7998	0.08754|0.08754	0.0:0.6005:0.2462:0.1533|0.0:0.6005:0.2462:0.1533	.|.	1315|.	Q9ULL0|.	K1210_HUMAN|.	S|F	1315|721	ENSP00000384670:A1315S|.	ENSP00000384670:A1315S|.	A|C	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118105278|118105278	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.062000|0.062000	0.15995|0.15995	0.210000|0.210000	0.17455|0.17455	0.293000|0.293000	0.22520|0.22520	0.513000|0.513000	0.50165|0.50165	GCC|TGC	KIAA1210	-	NULL	ENSG00000250423		0.488	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	-	0	55	0	C	NM_020721		118221250	-1	tier1	-	no_errors	ENST00000402510	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.000	A	A	118221250	C	A	118221250	3	1	178	1	0	0	0	0	1	0	0	0	8241	710	25	3	1202	3	KIAA1210	23	118221250	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	69461574	118221250	37049310	229	44432											
XPNPEP2	7512	genome.wustl.edu	37	chrX	128881662	128881662	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaccaatcttgtggacctGgtatggggatcagagaggcc	11	8	13	9	0	2	1	1	0	1	1	2	4	2	3	3	5	1	1	3	5	3	2			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:128881662G>T	ENST00000371106.3	+	7	762	c.570G>T	c.(568-570)ctG>ctT	p.L190L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	190						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						TTGTGGACCTGGTATGGGGAT	0.517																																																	0													137	113	121					X																	128881662		2203	4299	6502	SO:0001819	synonymous_variant	0			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.570G>T	X.37:g.128881662G>T			A0AV16|O75994	Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.L190	ENST00000371106.3	37	c.570	CCDS14613.1	X																																																																																			XPNPEP2	-	NULL	ENSG00000122121		0.517	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	-	0	62	0	G	NM_003399		128881662	1	tier1	-	no_errors	ENST00000371106	ensembl	human	known	74_37	silent	12.28	50	7	SNP	0.791	T	T	128881662	G	T	128881662	2	4	178	1	0	0	0	0	0	0	0	1	17492	1335	47	3		3	XPNPEP2	23	128881662	Silent	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	10660412	128881662	26388898	230	44433											
SLITRK4	139065	genome.wustl.edu	37	chrX	142717585	142717585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatactgcaggttatgaagaCctgaaaatatttcaggatag	15	11	10	5	0	1	3	1	2	0	1	1	5	1	4	1	2	2	2	1	2	7	5			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:142717585C>A	ENST00000381779.4	-	2	1565	c.1340G>T	c.(1339-1341)gGt>gTt	p.G447V	SLITRK4_ENST00000356928.1_Missense_Mutation_p.G447V|SLITRK4_ENST00000338017.4_Missense_Mutation_p.G447V	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	447						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)					GTTATGAAGACCTGAAAATAT	0.368																																																	0													61	58	59					X																	142717585		2203	4300	6503	SO:0001583	missense	0			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.1340G>T	X.37:g.142717585C>A	ENSP00000371198:p.Gly447Val		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G447V	ENST00000381779.4	37	c.1340	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076602	0.55753	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.60672	0.17;0.17;0.17	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.77136	0.4086	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80334	-0.1426	10	0.87932	D	0	-7.2719	16.8528	0.85998	0.0:1.0:0.0:0.0	.	447	Q8IW52	SLIK4_HUMAN	V	447	ENSP00000371198:G447V;ENSP00000349400:G447V;ENSP00000336627:G447V	ENSP00000336627:G447V	G	-	2	0	SLITRK4	142545251	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.384000	0.81235	0.594000	0.82650	GGT	SLITRK4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000179542		0.368	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	-	0	33	0	C	NM_173078		142717585	-1	tier1	-	no_errors	ENST00000338017	ensembl	human	known	74_37	missense	35.00	26	14	SNP	1.000	A	A	142717585	C	A	142717585	3	1	178	1	0	0	0	0	1	0	0	0	14790	507	18	3	1177	3	SLITRK4	23	142717585	Missense_Mutation	SNP	C	TCGA-XP-A8T6-01A-11D-A36J-09	13835923	142717585	12552975	231	44434											
RENBP	5973	genome.wustl.edu	37	chrX	153208330	153208330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgctgcagaatcctccGggcgcaccagtcccccagct	7	6	10	18	3	0	1	0	0	0	1	3	1	3	1	5	1	3	4	5	1	1	0			TCGA-XP-A8T6-01A-11D-A36J-09	TCGA-XP-A8T6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36c2d17a-9fa6-4389-94bb-fcdeb71361c6	869d84b3-0323-4628-b475-37ce31d22d02	g.chrX:153208330G>A	ENST00000393700.3	-	6	744	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	RENBP_ENST00000369997.3_Missense_Mutation_p.R208W|RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.R222W	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	222					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)	AGAATCCTCCGGGCGCACCAG	0.677																																																	0													65	64	64					X																	153208330		2202	4299	6501	SO:0001583	missense	0				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.664C>T	X.37:g.153208330G>A	ENSP00000377303:p.Arg222Trp		B4DNZ3|Q96BI6	Missense_Mutation	SNP	pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like	p.R222W	ENST00000393700.3	37	c.664	CCDS14738.2	X	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971030	0.34754	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.32753	1.51;1.44;1.51	3.92	2.0	0.26442	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.901808	0.09487	U	0.795507	T	0.44265	0.1285	L	0.46157	1.445	0.09310	N	1	D;D	0.76494	0.999;0.998	P;P	0.58928	0.764;0.848	T	0.37888	-0.9686	10	0.87932	D	0	4.0E-4	11.999	0.53220	0.0:0.5368:0.4632:0.0	.	222;222	P51606-2;P51606	.;RENBP_HUMAN	W	222;222;208	ENSP00000377303:R222W;ENSP00000387811:R222W;ENSP00000359014:R208W	ENSP00000359014:R208W	R	-	1	2	RENBP	152861524	0.000000	0.05858	0.004000	0.12327	0.343000	0.28985	0.182000	0.16900	0.147000	0.19030	0.183000	0.17082	CGG	RENBP	-	pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like	ENSG00000102032		0.677	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RENBP	HGNC	protein_coding	OTTHUMT00000061103.3	-	0	36	0	G	NM_002910		153208330	-1	tier1	-	no_errors	ENST00000393700	ensembl	human	known	74_37	missense	27.50	58	22	SNP	0.004	A	A	153208330	G	A	153208330	3	1	178	1	0	0	0	0	1	0	0	0	13270	1115	39	1	643	1	RENBP	23	153208330	Missense_Mutation	SNP	G	TCGA-XP-A8T6-01A-11D-A36J-09	10490745	153208330	2062230	232	44435											
PLEKHG5	57449	genome.wustl.edu	37	chr1	6533205	6533205	+	Silent	SNP	G	G	T	0	0	1	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	aggctgtaggtgtgcagcttGccctccagctgctccatctt	5	12	11	13	0	1	0	0	0	1	0	3	0	3	0	3	2	5	6	3	2	1	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:6533205G>T	ENST00000400915.3	-	10	1059	c.993C>A	c.(991-993)ggC>ggA	p.G331G	PLEKHG5_ENST00000400913.1_Silent_p.G275G|PLEKHG5_ENST00000340850.5_Silent_p.G275G|PLEKHG5_ENST00000377728.3_Silent_p.G275G|PLEKHG5_ENST00000535355.1_Silent_p.G344G|PLEKHG5_ENST00000377737.2_Silent_p.G275G|PLEKHG5_ENST00000377725.1_Silent_p.G275G|PLEKHG5_ENST00000537245.1_Silent_p.G354G|PLEKHG5_ENST00000377740.3_Silent_p.G352G|PLEKHG5_ENST00000377732.1_Silent_p.G312G|PLEKHG5_ENST00000377748.1_Silent_p.G352G|PLEKHG5_ENST00000544978.1_Silent_p.G275G	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	331					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)		TGTGCAGCTTGCCCTCCAGCT	0.637																																																	0													49	55	53					1																	6533205		2203	4300	6503	SO:0001819	synonymous_variant	0			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.993C>A	1.37:g.6533205G>T			B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G354	ENST00000400915.3	37	c.1062	CCDS41241.1	1																																																																																			PLEKHG5	-	NULL	ENSG00000171680		0.637	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1		0	21	0	G	NM_020631		6533205	-1			no_errors	ENST00000537245	ensembl	human	known	74_37	silent	15.38	22	4	SNP	1.000	T	T	6533205	G	T	6533205	2	4	179	1	0	0	0	0	0	0	0	1	12112	1306	46	3		3	PLEKHG5	1	6533205	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09		6533205	242717416	1	44436											
C1orf144	26099	genome.wustl.edu	37	chr1	16719936	16719936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaagcggatcctgggcagCgccagccccgaggaggagca	9	2	17	13	4	0	0	0	0	0	0	1	5	1	4	4	5	4	2	4	5	1	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:16719936C>T	ENST00000401088.4	+	3	490	c.315C>T	c.(313-315)agC>agT	p.S105S	SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000375590.3_Silent_p.S85S|SZRD1_ENST00000401089.3_Silent_p.S86S|SZRD1_ENST00000471507.1_Silent_p.S104S|SPATA21_ENST00000466212.1_5'Flank|SZRD1_ENST00000492354.1_Silent_p.S85S	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	105	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.																TCCTGGGCAGCGCCAGCCCCG	0.672																																																	0													20	25	23					1																	16719936		2021	4179	6200	SO:0001819	synonymous_variant	0			BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 144"	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.315C>T	1.37:g.16719936C>T			A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Silent	SNP	NULL	p.S85	ENST00000401088.4	37	c.255	CCDS44065.1	1																																																																																			SZRD1	-	NULL	ENSG00000055070		0.672	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SZRD1	HGNC	protein_coding	OTTHUMT00000006283.2	-	0	36	0	C	NM_015609		16719936	1	tier1	-	no_errors	ENST00000375590	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.257	T	T	16719936	C	T	16719936	2	4	179	1	0	0	0	0	0	0	0	1	2009	767	27	1		1	C1orf144	1	16719936	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	10186731	16719936	232530685	2	44437											
DDOST	1650	genome.wustl.edu	37	chr1	20982214	20982214	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgatggtcaatgacagcCgttttctcctcgtcaaactc	8	14	8	11	2	3	2	2	2	1	0	6	2	3	2	2	1	2	1	2	1	2	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:20982214C>A	ENST00000375048.3	-	4	567	c.462G>T	c.(460-462)acG>acT	p.T154T	DDOST_ENST00000602624.2_Silent_p.T137T|DDOST_ENST00000415136.2_Silent_p.T117T	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	154					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAATGACAGCCGTTTTCTCCT	0.537																																																	0													207	202	204					1																	20982214		2203	4300	6503	SO:0001819	synonymous_variant	0			D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"oligosaccharyltransferase subunit 48"	602202	"dolichyl-diphosphooligosaccharide-protein glycosyltransferase", "dolichyl-diphosphooligosaccharide--protein glycosyltransferase"			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.462G>T	1.37:g.20982214C>A			B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Silent	SNP	pfam_WBP1	p.T154	ENST00000375048.3	37	c.462	CCDS212.1	1																																																																																			DDOST	-	pfam_WBP1	ENSG00000244038		0.537	DDOST-001	KNOWN	basic|CCDS	protein_coding	DDOST	HGNC	protein_coding	OTTHUMT00000007961.2		0	18	0	C	NM_005216		20982214	-1			no_errors	ENST00000375048	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.131	A	A	20982214	C	A	20982214	2	1	179	1	0	0	0	0	0	0	0	1	4344	639	23	2		2	DDOST	1	20982214	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	4262278	20982214	228268407	3	44438											
FUCA1	2517	genome.wustl.edu	37	chr1	24192027	24192027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaaccaaatcccgatgagGccccacgtctttggagttcc	10	8	8	15	2	1	1	0	1	1	0	3	3	3	2	6	2	1	1	6	2	2	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:24192027G>T	ENST00000374479.3	-	2	485	c.478C>A	c.(478-480)Cct>Act	p.P160T		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	160					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TCCCGATGAGGCCCCACGTCT	0.507																																																	0													134	126	129					1																	24192027		2203	4300	6503	SO:0001583	missense	0			BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.478C>A	1.37:g.24192027G>T	ENSP00000363603:p.Pro160Thr		B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.P160T	ENST00000374479.3	37	c.478	CCDS244.2	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222177	0.79464	.	.	ENSG00000179163	ENST00000374479	T	0.58797	0.31	5.34	4.4	0.53042	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.048599	0.85682	D	0.000000	D	0.86226	0.5882	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92476	0.5989	10	0.87932	D	0	-18.6667	16.1807	0.81895	0.0:0.1335:0.8664:0.0	.	160	P04066	FUCO_HUMAN	T	160	ENSP00000363603:P160T	ENSP00000363603:P160T	P	-	1	0	FUCA1	24064614	1.000000	0.71417	0.931000	0.37212	0.760000	0.43138	7.426000	0.80270	1.338000	0.45544	0.561000	0.74099	CCT	FUCA1	-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	ENSG00000179163		0.507	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA1	HGNC	protein_coding	OTTHUMT00000008259.2		0	31	0	G	NM_000147		24192027	-1			no_errors	ENST00000374479	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	24192027	G	T	24192027	3	4	179	1	0	0	0	0	1	0	0	0	6118	1203	42	3	950	3	FUCA1	1	24192027	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	3209813	24192027	225058594	4	44439											
TRIM63	84676	genome.wustl.edu	37	chr1	26392821	26392821	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaggttcctctgcaggccGtacactccgtgacgatccat	8	9	10	14	3	1	1	0	1	1	0	4	2	4	1	4	2	3	4	4	2	1	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:26392821G>A	ENST00000374272.3	-	2	408	c.270C>T	c.(268-270)taC>taT	p.Y90Y	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	90	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGCAGGCCGTACACTCCGT	0.632																																																	0													115	85	95					1																	26392821		2203	4300	6503	SO:0001819	synonymous_variant	0			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.270C>T	1.37:g.26392821G>A			B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Silent	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.Y90	ENST00000374272.3	37	c.270	CCDS273.1	1																																																																																			TRIM63	-	NULL	ENSG00000158022		0.632	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM63	HGNC	protein_coding	OTTHUMT00000019750.1	-	0	52	0	G	NM_032588		26392821	-1	tier1	-	no_errors	ENST00000374272	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.845	A	A	26392821	G	A	26392821	2	1	179	1	0	0	0	0	0	0	0	1	16586	1140	40	1		1	TRIM63	1	26392821	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	2200794	26392821	222857800	5	44440											
HCRTR1	3061	genome.wustl.edu	37	chr1	32084943	32084943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtatgagtgggtcctcatCgcagcctatgtggctgtgtt	6	13	13	9	1	1	1	1	1	0	0	3	1	2	1	2	2	1	4	2	2	2	3	rs201247112		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:32084943C>T	ENST00000373706.5	+	1	303	c.150C>T	c.(148-150)atC>atT	p.I50I	HCRTR1_ENST00000403528.2_Silent_p.I50I|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.I50I			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	50					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)		GGGTCCTCATCGCAGCCTATG	0.587																																																	0													138	140	139					1																	32084943		2203	4300	6503	SO:0001819	synonymous_variant	0			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.150C>T	1.37:g.32084943C>T			A8K3A6|Q9HBV6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt	p.I50	ENST00000373706.5	37	c.150	CCDS344.1	1																																																																																			HCRTR1	-	prints_GPCR_Rhodpsn	ENSG00000121764		0.587	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR1	HGNC	protein_coding	OTTHUMT00000011042.1	-	0	41	0	C	NM_001525		32084943	1	tier1	rs201247112	no_errors	ENST00000373706	ensembl	human	known	74_37	silent	33.33	26	13	SNP	1.000	T	T	32084943	C	T	32084943	2	4	179	1	0	0	0	0	0	0	0	1	7028	874	31	1		1	HCRTR1	1	32084943	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	5692122	32084943	217165678	6	44441											
NCDN	23154	genome.wustl.edu	37	chr1	36028834	36028834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctggtgccacctgaccGttgaagatgggccccgggag	6	7	16	12	2	0	3	0	2	0	1	0	4	0	4	5	4	1	2	5	4	1	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:36028834G>A	ENST00000373243.2	+	5	1800	c.1417G>A	c.(1417-1419)Gtt>Att	p.V473I	NCDN_ENST00000356090.4_Missense_Mutation_p.V473I|NCDN_ENST00000373253.3_Missense_Mutation_p.V456I	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	473					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)				CCACCTGACCGTTGAAGATGG	0.582																																																	0													43	43	43					1																	36028834		2203	4300	6503	SO:0001583	missense	0			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.1417G>A	1.37:g.36028834G>A	ENSP00000362340:p.Val473Ile		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	NULL	p.V473I	ENST00000373243.2	37	c.1417	CCDS392.1	1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.820937	0.50633	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	.	.	.	4.71	3.78	0.43462	.	0.062123	0.64402	D	0.000006	T	0.42585	0.1209	N	0.19112	0.55	0.38072	D	0.936418	B	0.10296	0.003	B	0.01281	0.0	T	0.37753	-0.9692	9	0.51188	T	0.08	.	13.103	0.59231	0.0:0.0:0.8382:0.1618	.	473	Q9UBB6	NCDN_HUMAN	I	456;473;473	.	ENSP00000348394:V473I	V	+	1	0	NCDN	35801421	1.000000	0.71417	0.031000	0.17742	0.912000	0.54170	8.840000	0.92125	0.931000	0.37242	0.462000	0.41574	GTT	NCDN	-	NULL	ENSG00000020129		0.582	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NCDN	HGNC	protein_coding	OTTHUMT00000131298.1	-	0	37	0	G	NM_014284		36028834	1	tier1	-	no_errors	ENST00000356090	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.927	A	A	36028834	G	A	36028834	3	1	179	1	0	0	0	0	1	0	0	0	10253	1145	40	1	1435	1	NCDN	1	36028834	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	3943891	36028834	213221787	7	44442											
TRIT1	54802	genome.wustl.edu	37	chr1	40312896	40312896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacatgagacttactgctCaaaaaacggtttttaaccca	17	10	5	9	1	1	1	1	1	0	1	1	2	1	1	1	1	5	2	1	1	7	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:40312896C>A	ENST00000316891.5	-	8	1016	c.1002G>T	c.(1000-1002)ttG>ttT	p.L334F	TRIT1_ENST00000537223.1_Missense_Mutation_p.L30F|TRIT1_ENST00000441669.2_Missense_Mutation_p.L252F|TRIT1_ENST00000545233.1_Missense_Mutation_p.L88F|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000537440.1_Missense_Mutation_p.L30F	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	334					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTACTGCTCAAAAAACGGT	0.368																																																	0													103	98	100					1																	40312896		2203	4300	6503	SO:0001583	missense	0			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1002G>T	1.37:g.40312896C>A	ENSP00000321810:p.Leu334Phe		A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,superfamily_P-loop_NTPase,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase	p.L334F	ENST00000316891.5	37	c.1002	CCDS30681.1	1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241042	0.58995	.	.	ENSG00000043514	ENST00000372825;ENST00000441669;ENST00000316891;ENST00000534869;ENST00000545233;ENST00000537440;ENST00000537223	T	0.54071	0.59	5.52	2.6	0.31112	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.91635	0.972;0.994;0.999	T	0.61446	-0.7061	10	0.66056	D	0.02	-7.1464	3.1338	0.06433	0.1234:0.5471:0.1202:0.2092	.	334;252;30	Q9H3H1;Q9H3H1-5;Q3T7B5	MOD5_HUMAN;.;.	F	252;246;334;227;88;30;30	ENSP00000321810:L334F	ENSP00000321810:L334F	L	-	3	2	TRIT1	40085483	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.789000	0.26886	0.808000	0.34231	-0.136000	0.14681	TTG	TRIT1	-	NULL	ENSG00000043514		0.368	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TRIT1	HGNC	protein_coding	OTTHUMT00000025627.2		0	57	0	C	NM_017646		40312896	-1			no_errors	ENST00000316891	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.953	A	A	40312896	C	A	40312896	3	1	179	1	0	0	0	0	1	0	0	0	16608	825	29	3	417	3	TRIT1	1	40312896	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	4284062	40312896	208937725	8	44443											
RLF	6018	genome.wustl.edu	37	chr1	40705442	40705442	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaacagtgtaatatagttCagcctcctcctccttgtaaa	12	13	6	10	0	1	1	1	0	0	1	4	1	4	1	4	0	2	3	4	0	7	7			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:40705442C>T	ENST00000372771.4	+	8	5095	c.5068C>T	c.(5068-5070)Cag>Tag	p.Q1690*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1690					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)			TAATATAGTTCAGCCTCCTCC	0.403																																																	0													69	70	70					1																	40705442		2203	4300	6503	SO:0001587	stop_gained	0				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.5068C>T	1.37:g.40705442C>T	ENSP00000361857:p.Gln1690*		Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1690*	ENST00000372771.4	37	c.5068	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.073015	0.98640	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	.	.	.	5.78	4.82	0.62117	.	0.198942	0.41712	D	0.000836	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-3.4851	17.3344	0.87276	0.0:0.8181:0.1819:0.0	.	.	.	.	X	1690;1383	.	ENSP00000361857:Q1690X	Q	+	1	0	RLF	40478029	0.994000	0.37717	1.000000	0.80357	0.900000	0.52787	1.679000	0.37597	2.890000	0.99128	0.655000	0.94253	CAG	RLF	-	NULL	ENSG00000117000		0.403	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	-	0	56	0	C	NM_012421		40705442	1	tier1	-	no_errors	ENST00000372771	ensembl	human	known	74_37	nonsense	20.51	31	8	SNP	1.000	T	T	40705442	C	T	40705442	4	4	179	1	0	0	0	0	0	1	0	0	13434	827	29	3	5098	3	RLF	1	40705442	Nonsense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	392546	40705442	208545179	9	44444											
CYP4X1	260293	genome.wustl.edu	37	chr1	47501605	47501605	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaactgccagacaaacaGgtcagtggtgggagagcaaa	15	4	13	9	0	1	2	1	0	0	2	1	4	1	2	2	3	4	1	2	3	3	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:47501605G>A	ENST00000371901.3	+	5	870	c.620G>A	c.(619-621)aGc>aAc	p.S207N	CYP4X1_ENST00000538609.1_Splice_Site_p.S206N	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	207						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						CAGACAAACAGGTCAGTGGTG	0.418																																																	0													99	94	96					1																	47501605		2203	4300	6503	SO:0001630	splice_region_variant	0			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.620+1G>A	1.37:g.47501605G>A			G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.S207N	ENST00000371901.3	37	c.620	CCDS544.1	1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717471	0.48622	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.78924	-1.22;-0.32	5.76	5.76	0.90799	.	0.332861	0.35805	N	0.002974	T	0.68550	0.3013	L	0.41710	1.295	0.80722	D	1	B;B	0.17038	0.009;0.02	B;B	0.17098	0.017;0.01	T	0.61715	-0.7006	10	0.19147	T	0.46	.	12.8822	0.58024	0.0751:0.0:0.9249:0.0	.	207;206	Q8N118;G3V1U1	CP4X1_HUMAN;.	N	206;207	ENSP00000445965:S206N;ENSP00000360968:S207N	ENSP00000360968:S207N	S	+	2	0	CYP4X1	47274192	1.000000	0.71417	0.992000	0.48379	0.940000	0.58332	6.041000	0.70988	2.723000	0.93209	0.591000	0.81541	AGC	CYP4X1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186377		0.418	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4X1	HGNC	protein_coding	OTTHUMT00000022017.1	-	0	50	0	G	NM_178033	Missense_Mutation	47501605	1	tier1	-	no_errors	ENST00000371901	ensembl	human	known	74_37	missense	25.00	45	15	SNP	1.000	A	A	47501605	G	A	47501605	5	1	179	1	0	0	0	0	0	0	1	0	4202	1014	35	3	638	3	CYP4X1	1	47501605	Splice_Site	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	6796163	47501605	201749016	10	44445											
C1orf173	127254	genome.wustl.edu	37	chr1	75065555	75065555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcatttgaacatcagcctgtCcttcttcattagatttttca	9	18	4	10	0	5	2	4	1	1	1	6	2	6	2	2	0	2	0	2	0	2	6			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:75065555C>T	ENST00000326665.5	-	11	1768	c.1550G>A	c.(1549-1551)gGa>gAa	p.G517E	C1orf173_ENST00000420661.2_Missense_Mutation_p.G320E|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		517	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						ATCAGCCTGTCCTTCTTCATT	0.348																																																	0													208	214	212					1																	75065555		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.1550G>A	1.37:g.75065555C>T	ENSP00000322609:p.Gly517Glu		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.G517E	ENST00000326665.5	37	c.1550	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	8.344	0.829425	0.16749	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18174	2.69;2.23	6.05	4.14	0.48551	.	.	.	.	.	T	0.13072	0.0317	L	0.52573	1.65	0.26889	N	0.967364	B;D	0.76494	0.412;0.999	B;D	0.71414	0.232;0.973	T	0.02901	-1.1096	9	0.06494	T	0.89	-7.4945	10.1694	0.42900	0.1376:0.7909:0.0:0.0716	.	320;517	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	E	517;320	ENSP00000322609:G517E;ENSP00000398581:G320E	ENSP00000322609:G517E	G	-	2	0	C1orf173	74838143	1.000000	0.71417	0.742000	0.31022	0.013000	0.08279	2.799000	0.47892	0.841000	0.35020	0.650000	0.86243	GGA	C1orf173	-	NULL	ENSG00000178965		0.348	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0	38	0	C			75065555	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	27.47	66	25	SNP	1.000	T	T	75065555	C	T	75065555	3	4	179	1	0	0	0	0	1	0	0	0	2021	855	30	3	3058	3	C1orf173	1	75065555	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	27563950	75065555	174185066	11	44446											
OVGP1	5016	genome.wustl.edu	37	chr1	111957529	111957529	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	ctgatgactcacaggggtcaCagactgatgacccacagggg	11	6	13	11	0	2	5	2	4	0	1	2	5	2	5	1	4	0	0	1	4	0	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:111957529C>G	ENST00000369732.3	-	11	1649	c.1594G>C	c.(1594-1596)Gtg>Ctg	p.V532L		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	532					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)		ACAGGGGTCACAGACTGATGA	0.537																																																	0													59	57	58					1																	111957529		2202	4286	6488	SO:0001583	missense	0			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.1594G>C	1.37:g.111957529C>G	ENSP00000358747:p.Val532Leu		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.V532L	ENST00000369732.3	37	c.1594	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565692	0.45694	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.05925	3.37	2.62	2.62	0.31277	.	.	.	.	.	T	0.01558	0.0050	L	0.29908	0.895	0.27544	N	0.950696	P;B	0.39862	0.692;0.37	B;B	0.28385	0.089;0.024	T	0.45071	-0.9286	9	0.72032	D	0.01	7.0158	9.2883	0.37771	0.0:1.0:0.0:0.0	.	532;596	Q12889;Q59HH5	OVGP1_HUMAN;.	L	532;596;340	ENSP00000358747:V532L	ENSP00000358743:V596L	V	-	1	0	OVGP1	111759052	0.356000	0.24930	0.015000	0.15790	0.066000	0.16364	0.397000	0.20883	1.389000	0.46526	0.585000	0.79938	GTG	OVGP1	-	NULL	ENSG00000085465		0.537	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1		0	47	0	C	NM_002557		111957529	-1			no_errors	ENST00000369732	ensembl	human	known	74_37	missense	12.73	48	7	SNP	0.061	G	G	111957529	C	G	111957529	3	3	179	1	0	0	0	0	1	0	0	0	11364	478	17	5	446	5	OVGP1	1	111957529	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	36891974	111957529	137293092	12	44447											
ITGA10	8515	genome.wustl.edu	37	chr1	145532152	145532152	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccatgggggccgacccGaggctgccaggctactggtg	6	6	16	13	2	0	0	0	0	0	0	1	2	1	0	4	5	2	2	4	5	1	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:145532152G>T	ENST00000369304.3	+	8	971	c.796G>T	c.(796-798)Gag>Tag	p.E266*	ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Nonsense_Mutation_p.E135*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.E123*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	266	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)					GGGCCGACCCGAGGCTGCCAG	0.552																																																	0													88	90	89					1																	145532152		2203	4300	6503	SO:0001587	stop_gained	0			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.796G>T	1.37:g.145532152G>T	ENSP00000358310:p.Glu266*		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E266*	ENST00000369304.3	37	c.796	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.184303	0.94885	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	.	.	.	5.2	4.29	0.51040	.	0.196790	0.44285	D	0.000474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	11.8385	0.52340	0.086:0.0:0.914:0.0	.	.	.	.	X	266;232;123;135	.	ENSP00000358310:E266X	E	+	1	0	ITGA10	144243509	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.365000	0.97139	1.359000	0.45940	0.511000	0.50034	GAG	ITGA10	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000143127		0.552	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2		0	23	0	G	NM_003637		145532152	1			no_errors	ENST00000369304	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	T	T	145532152	G	T	145532152	4	4	179	1	0	0	0	0	0	1	0	0	7900	1059	37	2	826	2	ITGA10	1	145532152	Nonsense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	33574623	145532152	103718469	13	44448											
HRNR	388697	genome.wustl.edu	37	chr1	152186614	152186614	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctccatgttggccacagctCgatgactgtcctgatgtaga	8	11	11	11	1	0	3	0	2	0	1	3	4	2	3	3	1	1	4	3	1	1	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:152186614C>G	ENST00000368801.2	-	3	7566	c.7491G>C	c.(7489-7491)tcG>tcC	p.S2497S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2497					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.557																																																	0													1	1	1					1																	152186614		84	271	355	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7491G>C	1.37:g.152186614C>G			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S2497	ENST00000368801.2	37	c.7491	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	19	0	C	XM_373868		152186614	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.000	G	G	152186614	C	G	152186614	2	3	179	1	0	0	0	0	0	0	0	1	7386	871	31	5		5	HRNR	1	152186614	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	6654462	152186614	97064007	14	44449											
UBAP2L	9898	genome.wustl.edu	37	chr1	154232491	154232491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggatggtagcctggccaGcaacccttattctggtagga	9	9	14	9	0	1	0	0	0	1	0	1	3	1	2	3	5	3	3	3	5	4	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:154232491G>T	ENST00000361546.2	+	21	2606	c.2564G>T	c.(2563-2565)aGc>aTc	p.S855I	UBAP2L_ENST00000271877.7_Missense_Mutation_p.S866I|SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S855I|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S855I			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	855					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)			AGCCTGGCCAGCAACCCTTAT	0.473																																																	0													87	86	86					1																	154232491		2203	4300	6503	SO:0001583	missense	0			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.2564G>T	1.37:g.154232491G>T	ENSP00000355343:p.Ser855Ile		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S855I	ENST00000361546.2	37	c.2564	CCDS1063.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.66|18.66	3.670744|3.670744	0.67814|0.67814	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000433615;ENST00000428595|ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	.|T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.089163	.|0.85682	.|D	.|0.000000	T|T	0.25005|0.25005	0.0607|0.0607	L|L	0.57536|0.57536	1.79|1.79	0.39877|0.39877	D|D	0.973585|0.973585	.|P;P;P;P;D;P;B	.|0.53885	.|0.757;0.899;0.899;0.899;0.963;0.729;0.374	.|B;P;P;P;P;B;B	.|0.46796	.|0.324;0.469;0.469;0.469;0.527;0.335;0.241	T|T	0.07139|0.07139	-1.0788|-1.0788	5|10	.|0.87932	.|D	.|0	-8.3503|-8.3503	11.0717|11.0717	0.48008|0.48008	0.0841:0.0:0.9159:0.0|0.0841:0.0:0.9159:0.0	.|.	.|769;866;848;855;351;855;855	.|B4DZJ6;F8W726;Q14157-4;Q14157-1;C9JD99;Q14157-3;Q14157	.|.;.;.;.;.;.;UBP2L_HUMAN	H|I	185;133|855;855;351;351;866;855	.|ENSP00000345308:S855I;ENSP00000389445:S855I;ENSP00000271877:S866I;ENSP00000355343:S855I	.|ENSP00000271877:S866I	Q|S	+|+	3|2	2|0	UBAP2L|UBAP2L	152499115|152499115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.986000|2.986000	0.49370|0.49370	2.621000|2.621000	0.88768|0.88768	0.650000|0.650000	0.86243|0.86243	CAG|AGC	UBAP2L	-	NULL	ENSG00000143569		0.473	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	-	0	80	0	G	NM_014847		154232491	1	tier1	-	no_errors	ENST00000361546	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	154232491	G	T	154232491	3	4	179	1	0	0	0	0	1	0	0	0	16887	971	34	3	2646	3	UBAP2L	1	154232491	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	2045877	154232491	95018130	15	44450											
CLK2	1196	genome.wustl.edu	37	chr1	155238112	155238112	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacacattgtacaactcGgccgaaggtcccctctccta	10	9	7	15	2	2	0	1	0	1	0	5	1	3	0	4	2	3	1	4	2	5	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:155238112G>T	ENST00000368361.4	-	5	841	c.526C>A	c.(526-528)Cga>Aga	p.R176R	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.R175R|CLK2_ENST00000355560.4_Silent_p.R174R|CLK2_ENST00000536801.1_Silent_p.R176R			P49760	CLK2_HUMAN	CDC-like kinase 2	176	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)			TGTACAACTCGGCCGAAGGTC	0.507								Other conserved DNA damage response genes																																									0													67	65	66					1																	155238112		2203	4300	6503	SO:0001819	synonymous_variant	0			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.526C>A	1.37:g.155238112G>T			B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R176	ENST00000368361.4	37	c.526		1																																																																																			CLK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000176444		0.507	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	-	0	49	0	G	NM_003993		155238112	-1	tier1	-	no_errors	ENST00000368361	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	T	T	155238112	G	T	155238112	2	4	179	1	0	0	0	0	0	0	0	1	3544	1124	39	2		2	CLK2	1	155238112	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	1005621	155238112	94012509	16	44451											
ASH1L	55870	genome.wustl.edu	37	chr1	155308074	155308074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggctgggtatctcattgGctgcttgctcttgactggct	4	14	12	11	0	2	1	1	1	2	0	3	1	2	1	1	4	2	6	1	4	1	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:155308074G>A	ENST00000368346.3	-	27	9263	c.8624C>T	c.(8623-8625)gCc>gTc	p.A2875V	ASH1L_ENST00000392403.3_Missense_Mutation_p.A2870V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2875					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)			TATCTCATTGGCTGCTTGCTC	0.522																																																	0													146	136	140					1																	155308074		2203	4300	6503	SO:0001583	missense	0			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.8624C>T	1.37:g.155308074G>A	ENSP00000357330:p.Ala2875Val		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.A2875V	ENST00000368346.3	37	c.8624		1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435961	0.43224	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88741	-2.42;-2.42	5.65	5.65	0.86999	.	0.232446	0.43416	D	0.000566	T	0.70631	0.3246	N	0.08118	0	0.80722	D	1	B;B	0.22414	0.041;0.069	B;B	0.29942	0.051;0.109	T	0.67488	-0.5658	10	0.33141	T	0.24	.	13.0792	0.59102	0.0:0.2034:0.7966:0.0	.	2875;2870	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	2875;2870	ENSP00000357330:A2875V;ENSP00000376204:A2870V	ENSP00000357330:A2875V	A	-	2	0	ASH1L	153574698	0.888000	0.30383	1.000000	0.80357	0.464000	0.32679	3.290000	0.51755	2.941000	0.99782	0.655000	0.94253	GCC	ASH1L	-	NULL	ENSG00000116539		0.522	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	-	0	34	0	G	NM_018489		155308074	-1	tier1	-	no_errors	ENST00000368346	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	155308074	G	A	155308074	3	1	179	1	0	0	0	0	1	0	0	0	1042	1203	42	3	293	3	ASH1L	1	155308074	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	69962	155308074	93942547	17	44452											
OR10J1	26476	genome.wustl.edu	37	chr1	159409832	159409832	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tctcccaagaatgctctccaGcctcgtaggtatgagccagc	9	9	9	14	1	2	2	0	1	2	1	5	2	2	2	4	1	4	3	4	1	4	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:159409832G>T	ENST00000423932.3	+	1	321	c.284G>T	c.(283-285)aGc>aTc	p.S95I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	95					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATGCTCTCCAGCCTCGTAGGT	0.468																																																	0													105	92	96					1																	159409832		2203	4300	6503	SO:0001583	missense	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.284G>T	1.37:g.159409832G>T	ENSP00000399078:p.Ser95Ile		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S95I	ENST00000423932.3	37	c.284	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299844	0.40694	.	.	ENSG00000196184	ENST00000423932	T	0.00411	7.53	4.48	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.132994	0.34314	N	0.004077	T	0.00144	0.0004	N	0.11789	0.175	0.09310	N	1	P	0.49447	0.924	P	0.55345	0.774	T	0.40979	-0.9534	10	0.87932	D	0	.	3.7354	0.08508	0.1838:0.0:0.6112:0.205	.	95	P30954	O10J1_HUMAN	I	95	ENSP00000399078:S95I	ENSP00000399078:S95I	S	+	2	0	OR10J1	157676456	0.000000	0.05858	0.673000	0.29887	0.698000	0.40448	-0.517000	0.06275	0.736000	0.32559	0.655000	0.94253	AGC	OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196184		0.468	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	-	0	45	0	G	NM_012351		159409832	1	tier1	-	no_errors	ENST00000423932	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.033	T	T	159409832	G	T	159409832	3	4	179	1	0	0	0	0	1	0	0	0	10949	971	34	3	286	3	OR10J1	1	159409832	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	4101758	159409832	89840789	18	44453											
HSPA6	3310	genome.wustl.edu	37	chr1	161495361	161495361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcactcgtgcccgctttGaggaactgtgctcagacctc	7	10	9	15	2	2	2	2	1	0	1	4	3	2	3	3	1	3	2	3	1	1	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:161495361G>C	ENST00000309758.4	+	1	1326	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	305					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCCCGCTTTGAGGAACTGTG	0.627																																																	0													26	29	28					1																	161495361		2202	4300	6502	SO:0001583	missense	0				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.913G>C	1.37:g.161495361G>C	ENSP00000310219:p.Glu305Gln		Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E305Q	ENST00000309758.4	37	c.913	CCDS1231.1	1	.	.	.	.	.	.	.	.	.	.	.	18.55	3.648758	0.67358	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01246	5.11	3.12	3.12	0.35913	.	0.000000	0.39341	U	0.001397	T	0.08802	0.0218	H	0.97587	4.035	0.47065	D	0.999307	D	0.89917	1.0	D	0.97110	1.0	T	0.01930	-1.1245	10	0.87932	D	0	.	11.6907	0.51514	0.0:0.0:1.0:0.0	.	305	P17066	HSP76_HUMAN	Q	305;281	ENSP00000310219:E305Q	ENSP00000310219:E305Q	E	+	1	0	HSPA6	159761985	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.653000	0.74382	1.544000	0.49359	0.543000	0.68304	GAG	HSPA6	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000173110		0.627	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1	-	0	83	0	G	NM_002155		161495361	1	tier1	-	no_errors	ENST00000309758	ensembl	human	known	74_37	missense	34.72	47	25	SNP	1.000	C	C	161495361	G	C	161495361	3	2	179	1	0	0	0	0	1	0	0	0	7442	1291	45	5	915	5	HSPA6	1	161495361	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	2085529	161495361	87755260	19	44454											
NAV1	89796	genome.wustl.edu	37	chr1	201752571	201752571	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttgtcaaaccaccctcactaGccaatcttgacaaggtcaac	13	9	5	14	0	4	1	3	1	1	0	4	1	4	1	3	1	3	0	3	1	5	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:201752571G>T	ENST00000367296.4	+	7	2815	c.2395G>T	c.(2395-2397)Gcc>Tcc	p.A799S	NAV1_ENST00000295624.6_Missense_Mutation_p.A799S|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Missense_Mutation_p.A408S|NAV1_ENST00000367302.1_Missense_Mutation_p.A812S|NAV1_ENST00000367300.3_Missense_Mutation_p.A799S|NAV1_ENST00000367297.4_Missense_Mutation_p.A799S|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	799					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ACCCTCACTAGCCAATCTTGA	0.458																																																	0													278	280	279					1																	201752571		2203	4300	6503	SO:0001583	missense	0			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.2395G>T	1.37:g.201752571G>T	ENSP00000356265:p.Ala799Ser		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A799S	ENST00000367296.4	37	c.2395	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.32|17.32	3.359573|3.359573	0.61403|0.61403	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	T;T;T;T;T;T|.	0.08370|.	3.1;3.13;3.13;3.14;3.11;3.14|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.116351|.	0.56097|.	D|.	0.000021|.	T|T	0.53965|0.53965	0.1829|0.1829	L|L	0.31752|0.31752	0.955|0.955	0.36859|0.36859	D|D	0.888293|0.888293	P;P;P;D;D|.	0.69078|.	0.865;0.865;0.532;0.996;0.997|.	B;B;B;D;D|.	0.76071|.	0.301;0.301;0.122;0.987;0.942|.	T|T	0.57260|0.57260	-0.7842|-0.7842	10|5	0.24483|.	T|.	0.36|.	-32.3209|-32.3209	13.7273|13.7273	0.62765|0.62765	0.0:0.0:0.8459:0.1541|0.0:0.0:0.8459:0.1541	.|.	799;408;799;307;799|.	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.;.;NAV1_HUMAN;.;.|.	S|I	812;799;799;799;799;307;408|356	ENSP00000356271:A812S;ENSP00000356265:A799S;ENSP00000295624:A799S;ENSP00000356266:A799S;ENSP00000356269:A799S;ENSP00000356264:A408S|.	ENSP00000295624:A799S|.	A|S	+|+	1|2	0|0	NAV1|NAV1	200019194|200019194	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.998000|0.998000	0.95712|0.95712	6.653000|6.653000	0.74382|0.74382	2.524000|2.524000	0.85096|0.85096	0.585000|0.585000	0.79938|0.79938	GCC|AGC	NAV1	-	NULL	ENSG00000134369		0.458	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	-	0	55	0	G	NM_020443		201752571	1	tier1	-	no_errors	ENST00000367296	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.998	T	T	201752571	G	T	201752571	3	4	179	1	0	0	0	0	1	0	0	0	10221	971	34	3	2478	3	NAV1	1	201752571	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	40257210	201752571	47498050	20	44455											
MIA3	375056	genome.wustl.edu	37	chr1	222805566	222805566	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacagcagaacttaatgtgCaggttcctgaagaacccacc	14	7	9	11	0	0	4	0	1	0	3	1	4	1	4	3	1	4	3	3	1	4	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:222805566C>T	ENST00000344922.5	+	5	3254	c.3229C>T	c.(3229-3231)Cag>Tag	p.Q1077*	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Nonsense_Mutation_p.Q1077*|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1077					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACTTAATGTGCAGGTTCCTGA	0.483																																																	0													126	121	123					1																	222805566		1968	4142	6110	SO:0001587	stop_gained	0				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.3229C>T	1.37:g.222805566C>T	ENSP00000340900:p.Gln1077*		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Nonsense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.Q1077*	ENST00000344922.5	37	c.3229	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.876649|6.876649	0.97904|0.97904	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831	.|.	.|.	.|.	3.81|3.81	2.89|2.89	0.33648|0.33648	.|.	.|.	.|.	.|.	.|.	T|.	0.46600|.	0.1401|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.54248|.	-0.8322|.	3|.	.|0.23302	.|T	.|0.38	.|.	9.4717|9.4717	0.38847|0.38847	0.0:0.7838:0.2162:0.0|0.0:0.7838:0.2162:0.0	.|.	.|.	.|.	.|.	V|X	659|1077	.|.	.|ENSP00000325973:Q1077X	A|Q	+|+	2|1	0|0	MIA3|MIA3	220872189|220872189	0.000000|0.000000	0.05858|0.05858	0.023000|0.023000	0.16930|0.16930	0.026000|0.026000	0.11368|0.11368	-0.248000|-0.248000	0.08854|0.08854	1.167000|1.167000	0.42706|0.42706	0.557000|0.557000	0.71058|0.71058	GCA|CAG	MIA3	-	NULL	ENSG00000154305		0.483	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	-	0	44	0	C	NM_198551		222805566	1	tier1	-	no_errors	ENST00000344441	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	0.023	T	T	222805566	C	T	222805566	4	4	179	1	0	0	0	0	0	1	0	0	9603	711	25	3	3247	3	MIA3	1	222805566	Nonsense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	21052995	222805566	26445055	21	44456											
OBSCN	84033	genome.wustl.edu	37	chr1	228554146	228554146	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcttagccagcagcaaGaaggcaccacatactccctg	11	5	9	16	1	0	1	0	0	0	1	1	1	1	1	4	2	4	4	4	2	4	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:228554146G>T	ENST00000422127.1	+	84	19266	c.19222G>T	c.(19222-19224)Gaa>Taa	p.E6408*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.E7365*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.E4042*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6408	Ig-like 54.				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)				CCAGCAGCAAGAAGGCACCAC	0.637																																																	0													23	26	25					1																	228554146		2102	4216	6318	SO:0001587	stop_gained	0			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.19222G>T	1.37:g.228554146G>T	ENSP00000409493:p.Glu6408*		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E6408*	ENST00000422127.1	37	c.19222	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	64|64	82.409008|82.409008	0.99994|0.99994	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	.|.	.|.	.|.	5.41|5.41	3.43|3.43	0.39272|0.39272	.|.	1.290870|.	0.05399|.	N|.	0.540328|.	.|T	.|0.37865	.|0.1019	.|.	.|.	.|.	0.19300|0.19300	N|N	0.99998|0.99998	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.14868	.|-1.0457	.|4	0.18710|.	T|.	0.47|.	.|.	10.2325|10.2325	0.43264|0.43264	0.0763:0.1372:0.7865:0.0|0.0763:0.1372:0.7865:0.0	.|.	.|.	.|.	.|.	X|I	6408;4042|1024	.|.	ENSP00000355668:E4042X|.	E|R	+|+	1|2	0|0	OBSCN|OBSCN	226620769|226620769	0.951000|0.951000	0.32395|0.32395	0.774000|0.774000	0.31636|0.31636	0.429000|0.429000	0.31625|0.31625	1.926000|1.926000	0.40084|0.40084	2.553000|2.553000	0.86117|0.86117	0.313000|0.313000	0.20887|0.20887	GAA|AGA	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000154358		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding			0	15	0	G	NM_052843		228554146	1			no_errors	ENST00000422127	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	0.046	T	T	228554146	G	T	228554146	4	4	179	1	0	0	0	0	0	1	0	0	10851	943	33	3	20762	3	OBSCN	1	228554146	Nonsense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	5748580	228554146	20696475	22	44457											
EGLN1	54583	genome.wustl.edu	37	chr1	231503341	231503341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatattttactttagctcgtGctctctcatctgcatcaaaa	10	16	5	10	1	4	0	2	0	2	0	6	1	4	0	0	0	4	3	0	0	5	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:231503341G>A	ENST00000366641.3	-	4	4345	c.1190C>T	c.(1189-1191)gCa>gTa	p.A397V	EGLN1_ENST00000476717.1_5'UTR	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				TTTAGCTCGTGCTCTCTCATC	0.378																																																	0													178	160	166					1																	231503341		2203	4300	6503	SO:0001583	missense	0			AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"Zinc fingers, MYND-type"	1232	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 2"	606425	"EGL nine (C.elegans) homolog 1", "egl nine homolog 1 (C. elegans)"	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.1190C>T	1.37:g.231503341G>A	ENSP00000355601:p.Ala397Val			Missense_Mutation	SNP	pfam_Znf_MYND,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_Znf_MYND	p.A397V	ENST00000366641.3	37	c.1190	CCDS1595.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.594773	0.96602	.	.	ENSG00000135766	ENST00000366641	D	0.87887	-2.31	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	M	0.68952	2.095	0.80722	D	1	P	0.47191	0.891	B	0.35470	0.203	D	0.87125	0.2193	10	0.54805	T	0.06	-11.0046	20.5568	0.99304	0.0:0.0:1.0:0.0	.	397	Q9GZT9	EGLN1_HUMAN	V	397	ENSP00000355601:A397V	ENSP00000355601:A397V	A	-	2	0	EGLN1	229569964	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GCA	EGLN1	-	NULL	ENSG00000135766		0.378	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGLN1	HGNC	protein_coding	OTTHUMT00000092879.1		0	41	0	G	NM_022051		231503341	-1			no_errors	ENST00000366641	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	231503341	G	A	231503341	3	1	179	1	0	0	0	0	1	0	0	0	4982	1319	46	3	98	3	EGLN1	1	231503341	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	2949195	231503341	17747280	23	44458											
FMN2	56776	genome.wustl.edu	37	chr1	240255968	240255968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggacatctatagcttcCattcggctacggagcaagag	12	8	10	11	3	1	1	0	0	1	1	3	3	2	3	1	3	3	3	1	3	4	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:240255968C>T	ENST00000319653.9	+	1	789	c.559C>T	c.(559-561)Cat>Tat	p.H187Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	187					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)			CTATAGCTTCCATTCGGCTAC	0.622																																																	0													73	72	72					1																	240255968		2203	4300	6503	SO:0001583	missense	0			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.559C>T	1.37:g.240255968C>T	ENSP00000318884:p.His187Tyr		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.H187Y	ENST00000319653.9	37	c.559	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243020	0.39697	.	.	ENSG00000155816	ENST00000319653	T	0.68765	-0.35	3.68	3.68	0.42216	.	0.000000	0.64402	D	0.000007	T	0.79046	0.4380	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.82573	-0.0390	10	0.87932	D	0	.	15.9248	0.79609	0.0:1.0:0.0:0.0	.	187	Q9NZ56	FMN2_HUMAN	Y	187	ENSP00000318884:H187Y	ENSP00000318884:H187Y	H	+	1	0	FMN2	238322591	1.000000	0.71417	0.989000	0.46669	0.798000	0.45092	6.826000	0.75298	2.046000	0.60703	0.313000	0.20887	CAT	FMN2	-	NULL	ENSG00000155816		0.622	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	94	0	C	XM_371352		240255968	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	30.56	50	22	SNP	1.000	T	T	240255968	C	T	240255968	3	4	179	1	0	0	0	0	1	0	0	0	5972	594	21	3	561	3	FMN2	1	240255968	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	8752627	240255968	8994653	24	44459											
OR11L1	391189	genome.wustl.edu	37	chr1	248004653	248004653	+	Silent	SNP	C	C	A	0	0	0	1	1	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	caggagagctgcatgagtggCgggaggtcgcagaagaaatg	12	5	18	6	2	0	4	0	1	0	3	1	6	0	5	0	4	2	3	0	4	2	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr1:248004653C>A	ENST00000355784.2	-	1	601	c.546G>T	c.(544-546)ccG>ccT	p.P182P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	182						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCATGAGTGGCGGGAGGTCGC	0.507																																																	0													91	96	94					1																	248004653		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.546G>T	1.37:g.248004653C>A				Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.P182	ENST00000355784.2	37	c.546	CCDS31098.1	1																																																																																			OR11L1	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197591		0.507	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	-	0	51	0	C	NM_001001959		248004653	-1	tier1	-	no_errors	ENST00000355784	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.000	A	A	248004653	C	A	248004653	2	1	179	1	0	0	0	0	0	0	0	1	10969	755	27	2		2	OR11L1	1	248004653	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	7748685	248004653	1245968	25	44460											
LTBP1	4052	genome.wustl.edu	37	chr2	33411983	33411983	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttcaagggacaaatgtcagtGccctccaaatttcacaggaa	14	9	8	10	0	3	0	3	0	0	0	4	2	4	2	2	2	1	0	2	2	4	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:33411983G>T	ENST00000404816.2	+	6	1615	c.1262G>T	c.(1261-1263)tGc>tTc	p.C421F	LTBP1_ENST00000404525.1_Missense_Mutation_p.C95F|LTBP1_ENST00000390003.4_Missense_Mutation_p.C95F|LTBP1_ENST00000354476.3_Missense_Mutation_p.C421F|LTBP1_ENST00000402934.1_Missense_Mutation_p.C95F|LTBP1_ENST00000407925.1_Missense_Mutation_p.C95F|LTBP1_ENST00000418533.2_Missense_Mutation_p.C95F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	421	EGF-like 2. {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)				AAATGTCAGTGCCCTCCAAAT	0.473																																																	0													116	109	111					2																	33411983		2203	4300	6503	SO:0001583	missense	0				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.1262G>T	2.37:g.33411983G>T	ENSP00000386043:p.Cys421Phe		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.C421F	ENST00000404816.2	37	c.1262	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651962	0.88056	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.99837	-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06	5.3	5.3	0.74995	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99757	0.9902	M	0.68952	2.095	0.80722	D	1	D;P;D;D;D;D	0.76494	0.992;0.947;0.999;0.969;0.985;0.995	P;P;D;P;P;D	0.72982	0.894;0.663;0.979;0.822;0.865;0.951	D	0.97273	0.9912	9	0.87932	D	0	.	18.9638	0.92687	0.0:0.0:1.0:0.0	.	421;95;95;95;95;421	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	F	421;421;110;95;95;95;95;95	ENSP00000386043:C421F;ENSP00000346467:C421F;ENSP00000374653:C95F;ENSP00000393057:C95F;ENSP00000384373:C95F;ENSP00000385359:C95F;ENSP00000384091:C95F	ENSP00000346467:C421F	C	+	2	0	LTBP1	33265487	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.092000	0.94157	2.468000	0.83385	0.655000	0.94253	TGC	LTBP1	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000049323		0.473	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	-	0	64	0	G	NM_206943		33411983	1	tier1	-	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T	T	33411983	G	T	33411983	3	4	179	1	0	0	0	0	1	0	0	0	9108	1319	46	3	1339	3	LTBP1	2	33411983	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09		33411983	209787390	26	44461											
FAM98A	25940	genome.wustl.edu	37	chr2	33817255	33817255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtagcccactcacctcaaGctggaattcttcagcttcac	10	11	6	14	0	5	0	4	0	1	0	5	1	5	1	2	1	3	3	2	1	4	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:33817255G>T	ENST00000238823.8	-	3	369	c.229C>A	c.(229-231)Ctt>Att	p.L77I	FAM98A_ENST00000403368.1_Missense_Mutation_p.L77I|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_5'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	77							poly(A) RNA binding (GO:0044822)	p.L77I(2)		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)					CTCACCTCAAGCTGGAATTCT	0.383																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)											146	142	144					2																	33817255		2203	4300	6503	SO:0001583	missense	0				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.229C>A	2.37:g.33817255G>T	ENSP00000238823:p.Leu77Ile		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.L77I	ENST00000238823.8	37	c.229	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.749212	0.96882	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368	T;T	0.51325	0.71;0.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.68728	2.09	0.80722	D	1	D	0.67145	0.996	D	0.80764	0.994	T	0.65994	-0.6033	10	0.48119	T	0.1	-6.6931	20.6593	0.99626	0.0:0.0:1.0:0.0	.	77	Q8NCA5-2	.	I	77	ENSP00000238823:L77I;ENSP00000384711:L77I	ENSP00000238823:L77I	L	-	1	0	FAM98A	33670759	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.013000	0.88655	2.885000	0.99019	0.655000	0.94253	CTT	FAM98A	-	pfam_Uncharacterised_FAM98	ENSG00000119812		0.383	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	-	0	69	0	G	NM_015475		33817255	-1	tier1	-	no_errors	ENST00000238823	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	33817255	G	T	33817255	3	4	179	1	0	0	0	0	1	0	0	0	5678	971	34	3	1351	3	FAM98A	2	33817255	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	405272	33817255	209382118	27	44462											
LHCGR	3973	genome.wustl.edu	37	chr2	48921377	48921377	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttacagtgttttgttattCactttccttactgtgctttc	6	21	5	9	0	1	0	1	0	0	0	3	0	2	0	1	0	3	3	1	0	3	8			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:48921377C>G	ENST00000294954.7	-	10	954	c.933G>C	c.(931-933)gtG>gtC	p.V311V	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Silent_p.V311V|LHCGR_ENST00000405626.1_Intron|LHCGR_ENST00000401907.1_Silent_p.V311V|LHCGR_ENST00000344775.3_Silent_p.V249V	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	311				Missing (in Ref. 3; AAA70231). {ECO:0000305}.	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)	TTTTGTTATTCACTTTCCTTA	0.328																																																	0													135	100	112					2																	48921377		2200	4295	6495	SO:0001819	synonymous_variant	0				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.933G>C	2.37:g.48921377C>G			Q14751|Q15996|Q9UEW9	Silent	SNP	pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.V311	ENST00000294954.7	37	c.933	CCDS1842.1	2																																																																																			LHCGR	-	NULL	ENSG00000138039		0.328	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	-	0	50	0	C	NM_000233.3		48921377	-1	tier1	-	no_errors	ENST00000294954	ensembl	human	known	74_37	silent	24.68	57	19	SNP	0.080	G	G	48921377	C	G	48921377	2	3	179	1	0	0	0	0	0	0	0	1	8791	813	29	5		5	LHCGR	2	48921377	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	15104122	48921377	194277996	28	44463											
KIAA1841	84542	genome.wustl.edu	37	chr2	61345214	61345214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctaataaaaatgagattggGggatctggaccgagtcaagt	14	9	12	6	1	2	1	1	1	1	1	2	5	2	3	2	3	0	0	2	3	5	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:61345214G>T	ENST00000402291.1	+	20	2232	c.1991G>T	c.(1990-1992)gGg>gTg	p.G664V	KIAA1841_ENST00000295031.5_Missense_Mutation_p.G664V|KIAA1841_ENST00000453873.1_Missense_Mutation_p.G664V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.G664V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	664										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATGAGATTGGGGGATCTGGAC	0.348																																																	0													79	84	82					2																	61345214		2203	4300	6503	SO:0001583	missense	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1991G>T	2.37:g.61345214G>T	ENSP00000385579:p.Gly664Val		Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.G664V	ENST00000402291.1	37	c.1991	CCDS46296.1	2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968684	0.92855	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.65739	0.2720	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.65944	-0.6045	10	0.66056	D	0.02	-25.4233	19.6504	0.95798	0.0:0.0:1.0:0.0	.	664;664	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	V	664	ENSP00000385579:G664V;ENSP00000295031:G664V;ENSP00000349154:G664V;ENSP00000416795:G664V	ENSP00000295031:G664V	G	+	2	0	KIAA1841	61198718	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.048000	0.89442	2.733000	0.93635	0.655000	0.94253	GGG	KIAA1841	-	NULL	ENSG00000162929		0.348	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1	-	0	93	0	G	NM_032506		61345214	1	tier1	-	no_errors	ENST00000356719	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	61345214	G	T	61345214	3	4	179	1	0	0	0	0	1	0	0	0	8288	1232	43	3	2061	3	KIAA1841	2	61345214	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	12423837	61345214	181854159	29	44464											
NEB	4703	genome.wustl.edu	37	chr2	152548623	152548623	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgtgtgatatgggtcctCcatgctgcctacataatgtc	7	14	11	9	0	0	1	0	1	0	0	3	1	2	1	3	1	3	1	3	1	3	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:152548623C>A	ENST00000172853.10	-	22	2203	c.2056G>T	c.(2056-2058)Gag>Tag	p.E686*	NEB_ENST00000603639.1_Nonsense_Mutation_p.E686*|NEB_ENST00000427231.2_Nonsense_Mutation_p.E686*|NEB_ENST00000397345.3_Nonsense_Mutation_p.E686*|NEB_ENST00000604864.1_Nonsense_Mutation_p.E686*|NEB_ENST00000409198.1_Nonsense_Mutation_p.E686*			P20929	NEBU_HUMAN	nebulin	686					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)		TATGGGTCCTCCATGCTGCCT	0.363																																																	0													202	188	192					2																	152548623		1950	4153	6103	SO:0001587	stop_gained	0			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.2056G>T	2.37:g.152548623C>A	ENSP00000172853:p.Glu686*		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.E686*	ENST00000172853.10	37	c.2056		2	.	.	.	.	.	.	.	.	.	.	C	38	7.150662	0.98096	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	6.01	6.01	0.97437	.	0.124934	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.6879	0.91571	0.0:1.0:0.0:0.0	.	.	.	.	X	686	.	ENSP00000172853:E686X	E	-	1	0	NEB	152256869	1.000000	0.71417	0.997000	0.53966	0.443000	0.32047	7.112000	0.77086	2.855000	0.98099	0.585000	0.79938	GAG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.363	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0	31	0	C	NM_004543		152548623	-1			no_errors	ENST00000397345	ensembl	human	known	74_37	nonsense	7.41	25	2	SNP	1.000	A	A	152548623	C	A	152548623	4	1	179	1	0	0	0	0	0	1	0	0	10341	864	30	3	24274	3	NEB	2	152548623	Nonsense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	91203409	152548623	90650750	30	44465											
XIRP2	129446	genome.wustl.edu	37	chr2	168099862	168099862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggagatgtctgcacaGctcggtggatgtttgaaaca	11	9	13	8	1	1	3	0	1	1	2	2	5	1	4	1	3	3	3	1	3	1	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:168099862G>A	ENST00000409195.1	+	9	2049	c.1960G>A	c.(1960-1962)Gct>Act	p.A654T	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A432T|XIRP2_ENST00000295237.9_Missense_Mutation_p.A654T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	479					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						TGTCTGCACAGCTCGGTGGAT	0.443																																																	0													66	64	65					2																	168099862		1894	4120	6014	SO:0001583	missense	0			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.1960G>A	2.37:g.168099862G>A	ENSP00000386840:p.Ala654Thr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.A654T	ENST00000409195.1	37	c.1960	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723600	0.68959	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.05925	3.38;3.38;3.37	5.93	5.04	0.67666	.	0.051456	0.85682	D	0.000000	T	0.16938	0.0407	M	0.72894	2.215	0.58432	D	0.999996	P;D;D	0.55605	0.952;0.972;0.972	P;P;P	0.51806	0.481;0.68;0.68	T	0.00063	-1.2154	10	0.87932	D	0	-10.9239	15.5263	0.75910	0.0672:0.0:0.9328:0.0	.	479;479;432	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	654;654;432	ENSP00000386840:A654T;ENSP00000295237:A654T;ENSP00000387255:A432T	ENSP00000295237:A654T	A	+	1	0	XIRP2	167808108	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	6.136000	0.71703	2.814000	0.96858	0.655000	0.94253	GCT	XIRP2	-	NULL	ENSG00000163092		0.443	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1		0	54	0	G	NM_152381		168099862	1			no_errors	ENST00000295237	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	168099862	G	A	168099862	3	1	179	1	0	0	0	0	1	0	0	0	17479	971	34	3	1990	3	XIRP2	2	168099862	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	15551239	168099862	75099511	31	44466											
MYO3B	140469	genome.wustl.edu	37	chr2	171243657	171243660	+	Frame_Shift_Del	DEL	CTCC	CTCC	-																															gagaaaattctacaagtcaaCtccctggtggaagcctttgg																										TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	CTCC	CTCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:171243657_171243660delCTCC	ENST00000408978.4	+	14	1559_1562	c.1416_1419delCTCC	c.(1414-1419)aactccfs	p.NS472fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Del_p.NS472fs|MYO3B_ENST00000334231.6_Frame_Shift_Del_p.NS481fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	472	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TACAAGTCAACTCCCTGGTGGAAG	0.441																																																	0																																										SO:0001589	frameshift_variant	0				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1416_1419delCTCC	2.37:g.171243657_171243660delCTCC	ENSP00000386213:p.Asn472fs		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.S482fs	ENST00000408978.4	37	c.1443_1446	CCDS42773.1	2																																																																																			MYO3B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000071909		0.441	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1		0	30	0	CTCC			171243660	1	tier1		no_errors	ENST00000334231	ensembl	human	known	74_37	frame_shift_del	28.57	30	12	DEL	1.000:1.000:1.000:0.820	-	-	171243660	CTCC	-	171243657	7	5	179	1	0	1	0	1	0	0	0	0	10115	564	20	0	1470	0	MYO3B	2	171243657	Frame_Shift_Del	DEL	CTCC	TCGA-XP-A8T7-01A-11D-A36J-09	3143795	171243657	71955716	32	44467											
RAPGEF4	11069	genome.wustl.edu	37	chr2	173883429	173883429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacacctacacaaccattcGggtgccagtggccacttcgg	9	7	9	16	2	0	0	0	0	0	0	2	0	0	0	5	3	3	0	5	3	2	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:173883429G>A	ENST00000397081.3	+	22	2197	c.2054G>A	c.(2053-2055)cGg>cAg	p.R685Q	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R514Q|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R541Q|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R532Q|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.R684Q|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R465Q|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R685Q|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R532Q	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	685					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ACAACCATTCGGGTGCCAGTG	0.483																																																	0													96	103	101					2																	173883429		2044	4201	6245	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2054G>A	2.37:g.173883429G>A	ENSP00000380271:p.Arg685Gln		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.R685Q	ENST00000397081.3	37	c.2054	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928177	0.92389	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.73	5.73	0.89815	Ras-association (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.58428	1.81	0.80722	D	1	P;P	0.52577	0.87;0.954	B;P	0.52514	0.179;0.701	T	0.00430	-1.1744	10	0.41790	T	0.15	.	19.9036	0.96999	0.0:0.0:1.0:0.0	.	541;685	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	Q	684;685;685;541;514;532;532;465	ENSP00000264111:R684Q;ENSP00000380271:R685Q;ENSP00000387104:R685Q;ENSP00000380276:R541Q;ENSP00000440135:R514Q;ENSP00000440250:R532Q;ENSP00000437384:R532Q;ENSP00000438011:R465Q	ENSP00000264111:R684Q	R	+	2	0	RAPGEF4	173591675	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.476000	0.97823	2.706000	0.92434	0.655000	0.94253	CGG	RAPGEF4	-	pfam_Ras-assoc,superfamily_Ras_GEF_dom	ENSG00000091428		0.483	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	-	0	28	0	G	NM_007023		173883429	1	tier1	-	no_errors	ENST00000397081	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	A	A	173883429	G	A	173883429	3	1	179	1	0	0	0	0	1	0	0	0	13091	1116	39	1	2156	1	RAPGEF4	2	173883429	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	2639772	173883429	69315944	33	44468											
TTN	7273	genome.wustl.edu	37	chr2	179579781	179579781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctttacactgatattccCcaatgtctgcagcatcgaca	10	12	7	12	1	1	1	0	1	1	0	3	2	2	1	2	1	3	3	2	1	3	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:179579781C>T	ENST00000591111.1	-	88	25405	c.25181G>A	c.(25180-25182)gGg>gAg	p.G8394E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7467E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G8711E			Q8WZ42	TITIN_HUMAN	titin	12568	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G7467E(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)			CTGATATTCCCCAATGTCTGC	0.448																																																	1	Substitution - Missense(1)	lung(1)											264	256	259					2																	179579781		2008	4178	6186	SO:0001583	missense	0			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.25181G>A	2.37:g.179579781C>T	ENSP00000465570:p.Gly8394Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G7467E	ENST00000591111.1	37	c.22400		2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813620	0.50527	.	.	ENSG00000155657	ENST00000342992	T	0.77750	-1.12	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94192	0.8136	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96162	0.9116	9	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	8394	Q8WZ42	TITIN_HUMAN	E	7467	ENSP00000343764:G7467E	ENSP00000343764:G7467E	G	-	2	0	TTN	179288026	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	GGG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	27	0	C	NM_133378		179579781	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	179579781	C	T	179579781	3	4	179	1	0	0	0	0	1	0	0	0	16784	623	22	3	78489	3	TTN	2	179579781	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	5696352	179579781	63619592	34	44469											
TTN	7273	genome.wustl.edu	37	chr2	179597268	179597268	+	Missense_Mutation	SNP	A	A	G	1	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	tttttactaaatagagttccAgggaactctctaaagcttct	12	15	6	8	0	2	1	0	0	2	1	4	2	3	2	1	1	3	2	1	1	7	8			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:179597268A>G	ENST00000591111.1	-	54	15793	c.15569T>C	c.(15568-15570)cTg>cCg	p.L5190P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L4263P|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L5507P			Q8WZ42	TITIN_HUMAN	titin	12557	Ig-like 32.				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)			ATAGAGTTCCAGGGAACTCTC	0.433																																																	0													54	52	53					2																	179597268		1844	4088	5932	SO:0001583	missense	0			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.15569T>C	2.37:g.179597268A>G	ENSP00000465570:p.Leu5190Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L4263P	ENST00000591111.1	37	c.12788		2	.	.	.	.	.	.	.	.	.	.	A	9.594	1.127033	0.20959	.	.	ENSG00000155657	ENST00000342992	T	0.73469	-0.75	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92273	0.7549	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95196	0.8312	9	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	5190	Q8WZ42	TITIN_HUMAN	P	4263	ENSP00000343764:L4263P	ENSP00000343764:L4263P	L	-	2	0	TTN	179305513	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	CTG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	29	0	A	NM_133378		179597268	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G	G	179597268	A	G	179597268	3	3	179	1	0	0	0	0	1	0	0	0	16784	188	7	4	88237	4	TTN	2	179597268	Missense_Mutation	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09	17487	179597268	63602105	35	44470											
FSIP2	401024	genome.wustl.edu	37	chr2	186665038	186665039	+	Frame_Shift_Ins	INS	-	-	A																															acaaattggtcaactttttcINSaaaaaaataagttaagttat																										TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:186665038_186665039insA	ENST00000424728.1	+	17	11005_11006	c.11005_11006insA	c.(11005-11007)caafs	p.Q3669fs	AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Frame_Shift_Ins_p.Q3758fs			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3669										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCAACTTTTTCAAAAAAATAAG	0.322																																																	0																																										SO:0001589	frameshift_variant	0			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.11012dupA	2.37:g.186665045_186665045dupA	ENSP00000401306:p.Gln3669fs		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Ins	INS	NULL	p.N3760fs	ENST00000424728.1	37	c.11272_11273		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.322	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3		0	87	0	-	NM_173651		186665039	1	tier1		no_errors	ENST00000343098	ensembl	human	known	74_37	frame_shift_ins	29.69	45	19	INS	0.256:0.278	A	A	186665039	-	A	186665038	7	5	179	1	0	1	1	0	0	0	0	0	6099	827	29	0	11338	0	FSIP2	2	186665038	Frame_Shift_Ins	INS	-	TCGA-XP-A8T7-01A-11D-A36J-09	7067770	186665038	56534335	36	44471											
CALCRL	10203	genome.wustl.edu	37	chr2	188245496	188245496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagagccatccatcccagGttctgttgcagtaaacgcct	10	9	9	13	1	1	1	0	0	1	1	3	1	3	1	4	1	4	5	4	1	2	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:188245496G>T	ENST00000409998.1	-	7	984	c.203C>A	c.(202-204)aCc>aAc	p.T68N	CALCRL_ENST00000410068.1_Missense_Mutation_p.T68N|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.T68N			Q16602	CALRL_HUMAN	calcitonin receptor-like	68					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)			TCCATCCCAGGTTCTGTTGCA	0.413																																																	0													59	55	56					2																	188245496		2203	4300	6503	SO:0001583	missense	0			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.203C>A	2.37:g.188245496G>T	ENSP00000386972:p.Thr68Asn		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.T68N	ENST00000409998.1	37	c.203	CCDS2293.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217220	0.79352	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068;ENST00000447403	T;T;T;T	0.64991	-0.13;-0.13;-0.13;0.41	5.42	5.42	0.78866	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.64402	D	0.000008	T	0.72455	0.3462	M	0.62209	1.925	0.80722	D	1	P	0.44690	0.841	P	0.53861	0.736	T	0.71922	-0.4446	10	0.49607	T	0.09	.	16.7568	0.85502	0.0:0.0:1.0:0.0	.	68	Q16602	CALRL_HUMAN	N	68	ENSP00000376177:T68N;ENSP00000386972:T68N;ENSP00000387190:T68N;ENSP00000415626:T68N	ENSP00000376177:T68N	T	-	2	0	CALCRL	187953741	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.965000	0.70387	2.820000	0.97059	0.650000	0.86243	ACC	CALCRL	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000064989		0.413	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALCRL	HGNC	protein_coding	OTTHUMT00000334648.1		0	28	0	G	NM_005795		188245496	-1			no_errors	ENST00000392370	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T	T	188245496	G	T	188245496	3	4	179	1	0	0	0	0	1	0	0	0	2587	1261	44	3	1222	3	CALCRL	2	188245496	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	1580458	188245496	54953877	37	44472											
COL5A2	1290	genome.wustl.edu	37	chr2	189901379	189901379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcaagaccataccaaacaGgtttattgtcaggagattta	15	12	7	7	0	2	2	2	0	0	2	2	3	2	2	2	2	2	1	2	2	6	7			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:189901379G>A	ENST00000374866.3	-	52	4350	c.4076C>T	c.(4075-4077)cCt>cTt	p.P1359L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1359	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			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)			ATACCAAACAGGTTTATTGTC	0.348																																																	0													98	87	91					2																	189901379		2203	4300	6503	SO:0001583	missense	0			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.4076C>T	2.37:g.189901379G>A	ENSP00000364000:p.Pro1359Leu		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P1359L	ENST00000374866.3	37	c.4076	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703828	0.68501	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.72725	-0.68	5.98	5.98	0.97165	Fibrillar collagen, C-terminal (3);	0.000000	0.51477	D	0.000088	D	0.84451	0.5475	M	0.75884	2.315	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72338	0.966;0.977	T	0.82022	-0.0663	10	0.39692	T	0.17	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	999;1359	Q5PR22;P05997	.;CO5A2_HUMAN	L	1359;999	ENSP00000364000:P1359L	ENSP00000364000:P1359L	P	-	2	0	COL5A2	189609624	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	7.863000	0.87023	2.838000	0.97847	0.591000	0.81541	CCT	COL5A2	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000204262		0.348	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	-	0	72	0	G	NM_000393		189901379	-1	tier1	-	no_errors	ENST00000374866	ensembl	human	known	74_37	missense	33.90	39	20	SNP	1.000	A	A	189901379	G	A	189901379	3	1	179	1	0	0	0	0	1	0	0	0	3704	1000	35	3	435	3	COL5A2	2	189901379	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	1655883	189901379	53297994	38	44473											
GPR1	2825	genome.wustl.edu	37	chr2	207041720	207041720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaagagaagaaaaatGaaatccgcaatggctagatt	19	6	11	5	1	0	5	0	1	0	4	1	6	1	5	1	2	0	3	1	2	7	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:207041720G>T	ENST00000407325.2	-	3	614	c.252C>A	c.(250-252)ttC>ttA	p.F84L	GPR1_ENST00000437420.1_Missense_Mutation_p.F84L	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	84					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GAAGAAAAATGAAATCCGCAA	0.488																																																	0													162	160	160					2																	207041720		2203	4300	6503	SO:0001583	missense	0				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"GPCR / Class A : Orphans"	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.252C>A	2.37:g.207041720G>T	ENSP00000384345:p.Phe84Leu		A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR1_orph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt	p.F84L	ENST00000407325.2	37	c.252	CCDS2368.1	2	.	.	.	.	.	.	.	.	.	.	G	9.405	1.078932	0.20227	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.84	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.11707	0.0285	N	0.11341	0.13	0.46298	D	0.99897	B	0.18863	0.031	B	0.22152	0.038	T	0.12967	-1.0527	10	0.30078	T	0.28	.	3.8255	0.08852	0.1403:0.1304:0.5944:0.1348	.	84	P46091	GPR1_HUMAN	L	84	ENSP00000384345:F84L;ENSP00000397535:F84L;ENSP00000414836:F84L;ENSP00000391146:F84L;ENSP00000414524:F84L	ENSP00000384345:F84L	F	-	3	2	GPR1	206749965	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	1.315000	0.33608	0.815000	0.34398	0.650000	0.86243	TTC	GPR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	ENSG00000183671		0.488	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR1	HGNC	protein_coding	OTTHUMT00000256394.2		0	32	0	G	NM_001098199		207041720	-1			no_errors	ENST00000407325	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.996	T	T	207041720	G	T	207041720	3	4	179	1	0	0	0	0	1	0	0	0	6647	1281	45	3	819	3	GPR1	2	207041720	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	17140341	207041720	36157653	39	44474											
COL4A3	1285	genome.wustl.edu	37	chr2	228169785	228169785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaaaggcaacaaaggttCtaaaggagagccaggtaaac	20	4	11	6	0	1	2	0	0	1	2	1	3	1	2	1	4	3	3	1	4	8	3	rs373382431		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:228169785C>T	ENST00000396578.3	+	47	4400	c.4238C>T	c.(4237-4239)tCt>tTt	p.S1413F	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)	1413	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)		AACAAAGGTTCTAAAGGAGAG	0.488																																																	0								C	PHE/SER	0,3774		0,0,1887	58	58	58		4238	-2.1	0	2		58	1,8221		0,1,4110	no	missense	COL4A3	NM_000091.4	155	0,1,5997	TT,TC,CC		0.0122,0.0,0.0083	benign	1413/1671	228169785	1,11995	1887	4111	5998	SO:0001583	missense	0				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.4238C>T	2.37:g.228169785C>T	ENSP00000379823:p.Ser1413Phe		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.S1413F	ENST00000396578.3	37	c.4238	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814815	0.32053	0.0	1.22E-4	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93076	-3.16	5.7	-2.06	0.07298	.	0.983492	0.08313	N	0.965028	D	0.86130	0.5859	L	0.43757	1.38	0.09310	N	1	P;B;B;B	0.40834	0.73;0.122;0.029;0.021	B;B;B;B	0.37304	0.246;0.037;0.015;0.025	T	0.75676	-0.3235	10	0.17369	T	0.5	.	3.4151	0.07373	0.096:0.4152:0.2507:0.2381	.	1413;1413;1413;1413	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	F	1413	ENSP00000379823:S1413F	ENSP00000323334:S1413F	S	+	2	0	COL4A3	227878029	0.000000	0.05858	0.003000	0.11579	0.994000	0.84299	-0.046000	0.11983	-0.485000	0.06754	0.655000	0.94253	TCT	COL4A3	-	pfam_Collagen	ENSG00000169031		0.488	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	-	0	36	0	C	NM_000091		228169785	1	tier1	-	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	30.56	50	22	SNP	0.000	T	T	228169785	C	T	228169785	3	4	179	1	0	0	0	0	1	0	0	0	3698	913	32	3	4424	3	COL4A3	2	228169785	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	21128065	228169785	15029588	40	44475											
UGT1A7	54577	genome.wustl.edu	37	chr2	234591302	234591302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aattctccaaacccctgtcaCggcatatgatctctacagcc	11	10	5	15	1	3	1	1	1	2	0	5	1	3	1	4	1	3	1	4	1	4	3	rs371311391		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:234591302C>T	ENST00000373426.3	+	1	719	c.719C>T	c.(718-720)aCg>aTg	p.T240M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	240					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|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)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		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;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	ACCCCTGTCACGGCATATGAT	0.408																																																	0								C	,,MET/THR,	0,4406		0,0,2203	200	211	208		,,719,	1.1	0	2		208	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A9	NM_019075.2,NM_019076.4,NM_019077.2,NM_021027.2	,,81,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,,240/531,	234591302	1,13005	2203	4300	6503	SO:0001583	missense	0			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.719C>T	2.37:g.234591302C>T	ENSP00000362525:p.Thr240Met		B8K293|O00473	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T240M	ENST00000373426.3	37	c.719	CCDS2506.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.944214|2.944214	0.53079|0.53079	0.0|0.0	1.16E-4|1.16E-4	ENSG00000244122|ENSG00000244122	ENST00000485022|ENST00000373426	.|T	.|0.07216	.|3.21	4.16|4.16	1.09|1.09	0.20402|0.20402	.|.	.|.	.|.	.|.	.|.	T|T	0.35799|0.35799	0.0944|0.0944	H|H	0.95437|0.95437	3.67|3.67	0.09310|0.09310	N|N	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.70487	.|0.969;0.969	T|T	0.11518|0.11518	-1.0584|-1.0584	5|9	.|0.87932	.|D	.|0	.|.	9.2286|9.2286	0.37423|0.37423	0.0:0.6491:0.2727:0.0782|0.0:0.6491:0.2727:0.0782	.|.	.|240;240	.|Q5DSZ7;Q9HAW7	.|.;UD17_HUMAN	W|M	97|240	.|ENSP00000362525:T240M	.|ENSP00000362525:T240M	R|T	+|+	1|2	2|0	UGT1A7|UGT1A7	234256041|234256041	0.072000|0.072000	0.21174|0.21174	0.045000|0.045000	0.18777|0.18777	0.128000|0.128000	0.20619|0.20619	1.531000|1.531000	0.36018|0.36018	0.393000|0.393000	0.25203|0.25203	0.485000|0.485000	0.47835|0.47835	CGG|ACG	UGT1A7	-	pfam_UDP_glucos_trans	ENSG00000244122		0.408	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A7	HGNC	protein_coding	OTTHUMT00000130614.1	-	0	55	0	C	NM_019077		234591302	1	tier1	-	no_errors	ENST00000373426	ensembl	human	known	74_37	missense	29.67	64	27	SNP	0.193	T	T	234591302	C	T	234591302	3	4	179	1	0	0	0	0	1	0	0	0	16999	536	19	1	721	1	UGT1A7	2	234591302	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	6421517	234591302	8608071	41	44476											
ANKMY1	51281	genome.wustl.edu	37	chr2	241451391	241451391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggcctggctcattgctgaGcttcagacttgagggcagca	8	9	14	10	0	2	3	2	2	0	1	2	3	2	3	1	3	3	5	1	3	0	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr2:241451391G>A	ENST00000272972.3	-	10	2120	c.1906C>T	c.(1906-1908)Ctc>Ttc	p.L636F	ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000373318.2_Missense_Mutation_p.L495F|ANKMY1_ENST00000406958.1_Missense_Mutation_p.L397F|ANKMY1_ENST00000401804.1_Missense_Mutation_p.L725F|ANKMY1_ENST00000403283.1_Missense_Mutation_p.L574F|ANKMY1_ENST00000391987.1_Missense_Mutation_p.L636F|ANKMY1_ENST00000373320.4_Missense_Mutation_p.L406F	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	636							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)		TCATTGCTGAGCTTCAGACTT	0.667																																																	0													62	63	63					2																	241451391		2203	4300	6503	SO:0001583	missense	0			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.1906C>T	2.37:g.241451391G>A	ENSP00000272972:p.Leu636Phe		B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.L636F	ENST00000272972.3	37	c.1906	CCDS2536.1	2	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915679	0.33815	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804	T;T;T;T;T;T;T	0.60299	2.68;3.27;0.23;0.23;4.04;2.16;0.2	3.43	3.43	0.39272	Ankyrin repeat-containing domain (3);	0.371837	0.21368	U	0.075690	T	0.63546	0.2520	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.99;0.976;0.999;0.973;0.99	T	0.59904	-0.7366	10	0.33141	T	0.24	-10.9267	11.0678	0.47985	0.0:0.0:1.0:0.0	.	636;406;495;397;636	Q4ZFV3;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6	.;.;.;.;ANKY1_HUMAN	F	495;397;636;636;406;574;725	ENSP00000362415:L495F;ENSP00000384555:L397F;ENSP00000272972:L636F;ENSP00000375847:L636F;ENSP00000362417:L406F;ENSP00000383968:L574F;ENSP00000385887:L725F	ENSP00000272972:L636F	L	-	1	0	ANKMY1	241100064	1.000000	0.71417	0.999000	0.59377	0.092000	0.18411	3.342000	0.52159	1.858000	0.53909	0.460000	0.39030	CTC	ANKMY1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000144504		0.667	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	HGNC	protein_coding	OTTHUMT00000257187.2	-	0	35	0	G	NM_017844		241451391	-1	tier1	-	no_errors	ENST00000272972	ensembl	human	known	74_37	missense	24.19	47	15	SNP	1.000	A	A	241451391	G	A	241451391	3	1	179	1	0	0	0	0	1	0	0	0	634	971	34	3	951	3	ANKMY1	2	241451391	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	6860089	241451391	1747982	42	44477											
CNTN4	152330	genome.wustl.edu	37	chr3	3085370	3085370	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccctggataatgagtcGgaagtaaaaggatacaaagt	17	7	12	5	1	0	1	0	1	0	0	1	4	0	4	1	4	1	1	1	4	7	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:3085370G>T	ENST00000397461.1	+	22	3177	c.2793G>T	c.(2791-2793)tcG>tcT	p.S931S	CNTN4_ENST00000358480.3_Silent_p.S712S|CNTN4_ENST00000448906.2_Silent_p.S603S|CNTN4_ENST00000397459.2_Silent_p.S603S|CNTN4_ENST00000427331.1_Silent_p.S931S|CNTN4_ENST00000418658.1_Silent_p.S931S|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	931	Fibronectin type-III 4. {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)		p.S931S(1)|p.S603S(1)		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)		ATAATGAGTCGGAAGTAAAAG	0.428																																																	2	Substitution - coding silent(2)	large_intestine(2)											63	63	63					3																	3085370		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2793G>T	3.37:g.3085370G>T			B2RAX3|Q8IX14|Q8TC35	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S931	ENST00000397461.1	37	c.2793	CCDS43041.1	3																																																																																			CNTN4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144619		0.428	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2		0	96	0	G			3085370	1			no_errors	ENST00000397461	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.036	T	T	3085370	G	T	3085370	2	4	179	1	0	0	0	0	0	0	0	1	3650	1103	39	2		2	CNTN4	3	3085370	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09		3085370	194937060	43	44478											
CRBN	51185	genome.wustl.edu	37	chr3	3192670	3192670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgtcttttttggtggccGtaaacttccatccaatatgg	9	15	8	9	1	1	0	0	0	1	0	3	0	3	0	3	3	1	1	3	3	4	6			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:3192670G>A	ENST00000231948.4	-	11	1230	c.1208C>T	c.(1207-1209)aCg>aTg	p.T403M	RP11-97C16.1_ENST00000607052.1_RNA|CRBN_ENST00000432408.2_Missense_Mutation_p.T402M	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	403	Thalidomide-binding.				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)	p.T403M(1)		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)	TTTGGTGGCCGTAAACTTCCA	0.433																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											112	90	97					3																	3192670		2203	4300	6503	SO:0001583	missense	0			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.1208C>T	3.37:g.3192670G>A	ENSP00000231948:p.Thr403Met		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N	p.T403M	ENST00000231948.4	37	c.1208	CCDS2562.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.691801|4.691801	0.88735|0.88735	.|.	.|.	ENSG00000113851|ENSG00000113851	ENST00000424814|ENST00000231948;ENST00000432408;ENST00000546075	.|.	.|.	.|.	5.62|5.62	4.75|4.75	0.60458|0.60458	.|.	.|0.048643	.|0.85682	.|D	.|0.000000	T|T	0.78175|0.78175	0.4242|0.4242	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.976;0.96	.|D;P;B	.|0.69307	.|0.963;0.561;0.358	T|T	0.81189|0.81189	-0.1046|-0.1046	5|9	.|0.66056	.|D	.|0.02	-21.7091|-21.7091	14.4318|14.4318	0.67257|0.67257	0.0706:0.0:0.9294:0.0|0.0706:0.0:0.9294:0.0	.|.	.|337;402;403	.|F5H3U1;Q96SW2-2;Q96SW2	.|.;.;CRBN_HUMAN	W|M	355|403;402;337	.|.	.|ENSP00000231948:T403M	R|T	-|-	1|2	2|0	CRBN|CRBN	3167670|3167670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.640000|9.640000	0.98453|0.98453	1.394000|1.394000	0.46624|0.46624	0.655000|0.655000	0.94253|0.94253	CGG|ACG	CRBN	-	NULL	ENSG00000113851		0.433	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRBN	HGNC	protein_coding	OTTHUMT00000206579.3		0	39	0	G	NM_016302		3192670	-1			no_errors	ENST00000231948	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	3192670	G	A	3192670	3	1	179	1	0	0	0	0	1	0	0	0	3858	1145	40	1	124	1	CRBN	3	3192670	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	107300	3192670	194829760	44	44479											
TMEM40	55287	genome.wustl.edu	37	chr3	12778296	12778296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacacaccagcaaggcccCgatggcaaagcacaggagga	16	2	11	12	1	0	0	0	0	0	0	0	3	0	2	3	4	3	3	3	4	3	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:12778296C>T	ENST00000314124.7	-	9	867	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	TMEM40_ENST00000435575.1_Missense_Mutation_p.G95R|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000264728.8_Missense_Mutation_p.G171R|TMEM40_ENST00000431022.2_Missense_Mutation_p.G187R|TMEM40_ENST00000435218.2_Missense_Mutation_p.G141R	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	171						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						AGCAAGGCCCCGATGGCAAAG	0.567																																																	0													155	147	150					3																	12778296		2203	4300	6503	SO:0001583	missense	0			BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.511G>A	3.37:g.12778296C>T	ENSP00000322837:p.Gly171Arg		C9JID5|Q8NAL4|Q9NUZ4	Missense_Mutation	SNP	NULL	p.G187R	ENST00000314124.7	37	c.559	CCDS2613.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996590	0.74818	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000428020;ENST00000264728;ENST00000431022	.	.	.	5.23	4.35	0.52113	.	0.135740	0.33854	N	0.004500	T	0.71567	0.3355	M	0.63843	1.955	0.40253	D	0.978097	D;P;D;D	0.89917	0.993;0.859;1.0;0.993	P;B;D;P	0.97110	0.608;0.215;1.0;0.608	T	0.74940	-0.3493	9	0.87932	D	0	.	11.8635	0.52480	0.0:0.8236:0.1764:0.0	.	187;95;141;171	B4DXI0;C9JID5;Q8WWA1-2;Q8WWA1	.;.;.;TMM40_HUMAN	R	171;95;141;35;171;187	.	ENSP00000264728:G171R	G	-	1	0	TMEM40	12753296	0.997000	0.39634	0.994000	0.49952	0.989000	0.77384	3.886000	0.56190	1.201000	0.43203	0.467000	0.42956	GGG	TMEM40	-	NULL	ENSG00000088726		0.567	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM40	HGNC	protein_coding	OTTHUMT00000252029.2	-	0	69	0	C	NM_018306		12778296	-1	tier1	-	no_errors	ENST00000431022	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.977	T	T	12778296	C	T	12778296	3	4	179	1	0	0	0	0	1	0	0	0	16210	652	23	1	206	1	TMEM40	3	12778296	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	9585626	12778296	185244134	45	44480											
ZNF445	353274	genome.wustl.edu	37	chr3	44489726	44489726	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttaaatgacactcccactgtGtgaagactctgcccacgttg	10	11	8	12	1	1	3	0	2	1	1	2	3	2	3	2	0	1	1	2	0	3	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:44489726G>T	ENST00000396077.2	-	8	1784	c.1437C>A	c.(1435-1437)caC>caA	p.H479Q	ZNF445_ENST00000425708.2_Missense_Mutation_p.H479Q	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	479					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)		CTCCCACTGTGTGAAGACTCT	0.453																																																	0													194	183	187					3																	44489726		2203	4300	6503	SO:0001583	missense	0			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.1437C>A	3.37:g.44489726G>T	ENSP00000379387:p.His479Gln		Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.H479Q	ENST00000396077.2	37	c.1437	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124739	0.37533	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.28895	1.59;1.59	3.54	1.74	0.24563	.	0.476015	0.17886	N	0.158693	T	0.52370	0.1730	M	0.92738	3.34	0.34529	D	0.708999	D;D	0.58970	0.984;0.984	P;P	0.55161	0.77;0.77	T	0.66492	-0.5910	10	0.87932	D	0	.	7.582	0.27970	0.2205:0.0:0.7795:0.0	.	467;479	B7ZKX2;P59923	.;ZN445_HUMAN	Q	479	ENSP00000413073:H479Q;ENSP00000379387:H479Q	ENSP00000379387:H479Q	H	-	3	2	ZNF445	44464730	0.031000	0.19500	0.001000	0.08648	0.019000	0.09904	0.328000	0.19681	0.497000	0.27926	0.591000	0.81541	CAC	ZNF445	-	NULL	ENSG00000185219		0.453	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2		0	21	0	G	NM_181489		44489726	-1			no_errors	ENST00000396077	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.931	T	T	44489726	G	T	44489726	3	4	179	1	0	0	0	0	1	0	0	0	17966	1368	48	3	1662	3	ZNF445	3	44489726	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	31711430	44489726	153532704	46	44481											
CSPG5	10675	genome.wustl.edu	37	chr3	47604144	47604144	+	Silent	SNP	G	G	T	0	0	1	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	aagtcagcctggtcacctttGccaccctcaagtttgggcga	8	10	10	13	1	3	0	3	0	0	0	3	1	3	0	4	2	2	1	4	2	2	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:47604144G>T	ENST00000383738.2	-	5	3745	c.1647C>A	c.(1645-1647)ggC>ggA	p.G549G	RN7SL870P_ENST00000460111.2_RNA|CSPG5_ENST00000456150.1_Silent_p.G384G|CSPG5_ENST00000264723.4_Silent_p.G522G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	549					axon regeneration (GO:0031103)|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)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGTCACCTTTGCCACCCTCAA	0.507																																																	0													169	164	166					3																	47604144		2203	4300	6503	SO:0001819	synonymous_variant	0			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1647C>A	3.37:g.47604144G>T			Q71M39|Q71M40	Silent	SNP	pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.G549	ENST00000383738.2	37	c.1647	CCDS56253.1	3																																																																																			CSPG5	-	pfam_Neural_ProG_Cyt	ENSG00000114646		0.507	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	HGNC	protein_coding	OTTHUMT00000257489.1	-	0	38	0	G	NM_006574		47604144	-1	tier1	-	no_errors	ENST00000383738	ensembl	human	known	74_37	silent	12.50	35	5	SNP	1.000	T	T	47604144	G	T	47604144	2	4	179	1	0	0	0	0	0	0	0	1	3970	1306	46	3		3	CSPG5	3	47604144	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	3114418	47604144	150418286	47	44482											
GLYCTK	132158	genome.wustl.edu	37	chr3	52327044	52327044	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacaatgactcacataccTtcttctgctgcctccagggt	8	11	6	16	0	3	1	1	1	2	0	4	1	4	1	4	1	3	1	4	1	2	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:52327044T>A	ENST00000436784.2	+	5	1534	c.1474T>A	c.(1474-1476)Ttc>Atc	p.F492I	GLYCTK_ENST00000354773.4_3'UTR|MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000305690.8_Intron			Q8IVS8	GLCTK_HUMAN	glycerate kinase	492					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)		CTCACATACCTTCTTCTGCTG	0.607																																																	0													110	99	103					3																	52327044		2203	4300	6503	SO:0001583	missense	0				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.1474T>A	3.37:g.52327044T>A	ENSP00000389175:p.Phe492Ile		Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	pfam_MOFRL	p.F492I	ENST00000436784.2	37	c.1474	CCDS2852.1	3	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743787	0.69418	.	.	ENSG00000168237	ENST00000436784;ENST00000411757	T	0.77229	-1.08	5.22	5.22	0.72569	MOFRL domain (2);	0.000000	0.85682	D	0.000000	D	0.87708	0.6245	M	0.83852	2.665	0.80722	D	1	D	0.65815	0.995	D	0.64877	0.93	D	0.88928	0.3371	9	.	.	.	-17.7862	15.0889	0.72177	0.0:0.0:0.0:1.0	.	492	Q8IVS8	GLCTK_HUMAN	I	492;426	ENSP00000389175:F492I	.	F	+	1	0	GLYCTK	52302084	1.000000	0.71417	0.983000	0.44433	0.225000	0.24961	7.831000	0.86748	1.974000	0.57490	0.459000	0.35465	TTC	GLYCTK	-	pfam_MOFRL	ENSG00000168237		0.607	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYCTK	HGNC	protein_coding	OTTHUMT00000350835.1	-	0	19	0	T	NM_145262		52327044	1	tier1	-	no_errors	ENST00000436784	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	A	A	52327044	T	A	52327044	3	1	179	1	0	0	0	0	1	0	0	0	6508	1609	56	5	1488	5	GLYCTK	3	52327044	Missense_Mutation	SNP	T	TCGA-XP-A8T7-01A-11D-A36J-09	4722900	52327044	145695386	48	44483											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64532472	64532472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctccaggtggccgagacagGgcagtccctcaggtaacagg	9	6	14	12	1	2	1	1	0	1	1	4	2	3	1	3	5	1	2	3	5	1	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:64532472G>T	ENST00000498707.1	-	32	5368	c.5026C>A	c.(5026-5028)Cct>Act	p.P1676T	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P1648T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1676	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCCGAGACAGGGCAGTCCCTC	0.537																																																	0													107	106	106					3																	64532472		2203	4300	6503	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5026C>A	3.37:g.64532472G>T	ENSP00000418735:p.Pro1676Thr		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1676T	ENST00000498707.1	37	c.5026	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605239	0.46423	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.60548	0.18;0.18	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	M	0.84326	2.69	0.80722	D	1	P;P	0.51449	0.945;0.945	P;P	0.47251	0.459;0.542	T	0.66885	-0.5810	10	0.16420	T	0.52	.	19.1009	0.93274	0.0:0.0:1.0:0.0	.	1648;1676	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	T	1648;1676	ENSP00000295903:P1648T;ENSP00000418735:P1676T	ENSP00000295903:P1648T	P	-	1	0	ADAMTS9	64507512	1.000000	0.71417	0.984000	0.44739	0.847000	0.48162	7.138000	0.77305	2.509000	0.84616	0.655000	0.94253	CCT	ADAMTS9	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.537	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0	41	0	G			64532472	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	64532472	G	T	64532472	3	4	179	1	0	0	0	0	1	0	0	0	273	1232	43	3	813	3	ADAMTS9	3	64532472	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	12205428	64532472	133489958	49	44484											
ALCAM	214	genome.wustl.edu	37	chr3	105264106	105264106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagtggagaagtgactaGacagattggtgatgccctac	12	8	12	9	0	0	5	0	2	0	3	0	6	0	5	2	2	2	0	2	2	4	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:105264106G>T	ENST00000306107.5	+	9	1531	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	ALCAM_ENST00000389927.4_Missense_Mutation_p.R66I|ALCAM_ENST00000486979.2_Missense_Mutation_p.R293I|ALCAM_ENST00000472644.2_Missense_Mutation_p.R344I|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	344	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GAAGTGACTAGACAGATTGGT	0.388																																																	0													168	160	162					3																	105264106		2203	4300	6503	SO:0001583	missense	0			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.1031G>T	3.37:g.105264106G>T	ENSP00000305988:p.Arg344Ile		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom	p.R344I	ENST00000306107.5	37	c.1031	CCDS33810.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.744930|2.744930	0.49151|0.49151	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|.	0.73363|.	-0.74;-0.74;-0.74;-0.74|.	5.16|5.16	2.73|2.73	0.32206|0.32206	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.094538|.	0.64402|.	D|.	0.000001|.	T|.	0.19565|.	0.0470|.	N|N	0.02247|0.02247	-0.625|-0.625	0.47183|0.47183	D|D	0.999341|0.999341	P;B;B|.	0.49696|.	0.927;0.021;0.301|.	P;B;B|.	0.48952|.	0.596;0.027;0.137|.	T|.	0.03750|.	-1.1007|.	10|.	0.48119|.	T|.	0.1|.	-6.3164|-6.3164	6.6554|6.6554	0.22984|0.22984	0.787:0.0:0.0765:0.1365|0.787:0.0:0.0765:0.1365	.|.	66;344;344|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	I|Y	344;344;293;66|104	ENSP00000305988:R344I;ENSP00000419236:R344I;ENSP00000418213:R293I;ENSP00000374577:R66I|.	ENSP00000305988:R344I|.	R|X	+|+	2|3	0|2	ALCAM|ALCAM	106746796|106746796	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	3.458000|3.458000	0.53014|0.53014	0.350000|0.350000	0.24002|0.24002	-0.471000|-0.471000	0.05019|0.05019	AGA|TAG	ALCAM	-	smart_Ig_sub	ENSG00000170017		0.388	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1	-	0	36	0	G	NM_001627		105264106	1	tier1	-	no_errors	ENST00000306107	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	105264106	G	T	105264106	3	4	179	1	0	0	0	0	1	0	0	0	487	942	33	3	1065	3	ALCAM	3	105264106	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	40731634	105264106	92758324	50	44485											
COL6A5	256076	genome.wustl.edu	37	chr3	130107707	130107707	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcactaaattttgtaggtCaatacttcacccactccaag	13	11	6	11	0	2	0	2	0	0	0	3	0	3	0	2	2	1	2	2	2	6	6			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:130107707C>T	ENST00000432398.2	+	6	2640	c.2146C>T	c.(2146-2148)Caa>Taa	p.Q716*	COL6A5_ENST00000265379.6_Nonsense_Mutation_p.Q716*	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	716	Nonhelical region.|VWFA 4. {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						TTTTGTAGGTCAATACTTCAC	0.418																																																	0													36	32	33					3																	130107707		692	1591	2283	SO:0001587	stop_gained	0			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.2146C>T	3.37:g.130107707C>T	ENSP00000390895:p.Gln716*		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Nonsense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.Q716*	ENST00000432398.2	37	c.2146		3	.	.	.	.	.	.	.	.	.	.	C	39	7.485462	0.98312	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	.	.	.	5.48	-1.9	0.07665	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	12.0095	0.53278	0.1826:0.302:0.5154:0.0	.	.	.	.	X	716	.	ENSP00000265379:Q716X	Q	+	1	0	COL6A5	131590397	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.461000	0.06712	-0.028000	0.13850	0.650000	0.86243	CAA	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.418	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	50	0	C	NM_153264		130107707	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	nonsense	26.42	39	14	SNP	0.000	T	T	130107707	C	T	130107707	4	4	179	1	0	0	0	0	0	1	0	0	3709	827	29	3	2164	3	COL6A5	3	130107707	Nonsense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	24843601	130107707	67914723	51	44486											
PIK3CA	5290	genome.wustl.edu	37	chr3	178928045	178928045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctagtatctggaaaaatGgctttgaatctttggccagt	11	14	9	7	0	3	1	0	1	3	0	3	2	3	2	1	3	0	2	1	3	5	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:178928045G>T	ENST00000263967.3	+	8	1480	c.1323G>T	c.(1321-1323)atG>atT	p.M441I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	441	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CTGGAAAAATGGCTTTGAATC	0.343		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													127	122	124					3																	178928045		1838	4086	5924	SO:0001583	missense	0				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.1323G>T	3.37:g.178928045G>T	ENSP00000263967:p.Met441Ile		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.M441I	ENST00000263967.3	37	c.1323	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074473	0.36566	.	.	ENSG00000121879	ENST00000263967	T	0.76186	-1.0	5.64	5.64	0.86602	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.078115	0.85682	D	0.000000	T	0.54159	0.1841	N	0.02697	-0.525	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.51004	-0.8760	10	0.19147	T	0.46	-23.0806	19.6973	0.96031	0.0:0.0:1.0:0.0	.	441	P42336	PK3CA_HUMAN	I	441	ENSP00000263967:M441I	ENSP00000263967:M441I	M	+	3	0	PIK3CA	180410739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.660000	0.83776	2.674000	0.91012	0.655000	0.94253	ATG	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_dom	ENSG00000121879		0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2		0	40	0	G			178928045	1			no_errors	ENST00000263967	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	178928045	G	T	178928045	3	4	179	1	0	0	0	0	1	0	0	0	11952	1348	47	3	1349	3	PIK3CA	3	178928045	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	48820338	178928045	19094385	52	44487											
PIK3CA	5290	genome.wustl.edu	37	chr3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaacaggagaagaaggatGaaacacaaaaggtgtgtgac	19	5	12	5	0	1	4	1	2	0	2	1	6	1	5	0	3	2	0	0	3	6	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E726K(8)		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)	GAAGAAGGATGAAACACAAAA	0.428		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"	8	Substitution - Missense(8)	lung(4)|large_intestine(2)|breast(2)											89	78	82					3																	178938934		1917	4118	6035	SO:0001583	missense	0				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.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E726K	ENST00000263967.3	37	c.2176	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA	PIK3CA	-	superfamily_Kinase-like_dom	ENSG00000121879		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	86	0	G			178938934	1	tier1	-	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	26.06	105	37	SNP	1.000	A	A	178938934	G	A	178938934	3	1	179	1	0	0	0	0	1	0	0	0	11952	1291	45	3	2226	3	PIK3CA	3	178938934	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	10889	178938934	19083496	53	44488											
LAMP3	27074	genome.wustl.edu	37	chr3	182871574	182871574	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcttgactgacgatggctGaggtgcaagggtgggcccag	8	8	17	8	1	1	3	0	3	1	0	1	4	1	3	1	4	1	2	1	4	1	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:182871574G>A	ENST00000265598.3	-	2	910	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	LAMP3_ENST00000466939.1_Nonsense_Mutation_p.Q195*	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	219					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)			GACGATGGCTGAGGTGCAAGG	0.537																																																	0													101	97	99					3																	182871574		2203	4300	6503	SO:0001587	stop_gained	0			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.655C>T	3.37:g.182871574G>A	ENSP00000265598:p.Gln219*		D3DNS4|O94781|Q8NEC8	Nonsense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.Q219*	ENST00000265598.3	37	c.655	CCDS3242.1	3	.	.	.	.	.	.	.	.	.	.	g	22.9	4.352791	0.82132	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	.	.	.	5.81	2.93	0.34026	.	0.908510	0.09416	N	0.805093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	0.0298	6.1002	0.20043	0.0881:0.0:0.5775:0.3344	.	.	.	.	X	219;195	.	ENSP00000265598:Q219X	Q	-	1	0	LAMP3	184354268	0.001000	0.12720	0.012000	0.15200	0.018000	0.09664	-0.043000	0.12043	0.311000	0.23014	-0.182000	0.12963	CAG	LAMP3	-	pfam_Lysosome-assoc_membr_glycop	ENSG00000078081		0.537	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP3	HGNC	protein_coding	OTTHUMT00000350863.1	-	0	33	0	G			182871574	-1	tier1	-	no_errors	ENST00000265598	ensembl	human	known	74_37	nonsense	29.73	52	22	SNP	0.032	A	A	182871574	G	A	182871574	4	1	179	1	0	0	0	0	0	1	0	0	8647	1299	45	3	615	3	LAMP3	3	182871574	Nonsense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	3932640	182871574	15150856	54	44489											
TRA2B	6434	genome.wustl.edu	37	chr3	185639850	185639850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcgtatgtggtctttttGttatagagaaatcaactctg	9	17	10	5	1	3	1	1	0	2	1	3	2	3	1	0	2	1	2	0	2	5	6			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:185639850G>T	ENST00000453386.2	-	5	862	c.587C>A	c.(586-588)aCa>aAa	p.T196K	TRA2B_ENST00000382191.4_Missense_Mutation_p.T96K	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	196	Linker.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TGGTCTTTTTGTTATAGAGAA	0.363																																																	0													154	147	149					3																	185639850		2203	4300	6503	SO:0001583	missense	0			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.587C>A	3.37:g.185639850G>T	ENSP00000416959:p.Thr196Lys		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T196K	ENST00000453386.2	37	c.587	CCDS33905.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.488472|5.488472	0.96323|0.96323	.|.	.|.	ENSG00000136527|ENSG00000136527	ENST00000259043;ENST00000414862|ENST00000453386;ENST00000382191	.|T;T	.|0.73789	.|1.33;-0.78	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85182|0.85182	0.5638|0.5638	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.79784	.|0.993;0.993	T|T	0.82764|0.82764	-0.0296|-0.0296	5|9	.|.	.|.	.|.	-6.571|-6.571	19.6509|19.6509	0.95805|0.95805	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|196;196	.|B2RDQ3;P62995	.|.;TRA2B_HUMAN	K|K	55;16|196;96	.|ENSP00000416959:T196K;ENSP00000371626:T96K	.|.	Q|T	-|-	1|2	0|0	TRA2B|TRA2B	187122544|187122544	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	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAA|ACA	TRA2B	-	pfscan_RRM_dom	ENSG00000136527		0.363	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1	-	0	60	0	G	NM_004593		185639850	-1	tier1	-	no_errors	ENST00000453386	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	185639850	G	T	185639850	3	4	179	1	0	0	0	0	1	0	0	0	16482	1377	48	3	299	3	TRA2B	3	185639850	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	2768276	185639850	12382580	55	44490											
DGKG	1608	genome.wustl.edu	37	chr3	185929635	185929635	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcgctgcaaaagtctcCgaggtgccaaattcaaagta	13	8	10	10	2	2	0	1	0	1	0	4	1	2	0	2	2	2	3	2	2	5	2	rs547522584		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr3:185929635C>T	ENST00000265022.3	-	21	2405	c.1866G>A	c.(1864-1866)tcG>tcA	p.S622S	DGKG_ENST00000382164.4_Silent_p.S583S|DGKG_ENST00000544847.1_Silent_p.S563S|DGKG_ENST00000344484.4_Silent_p.S597S	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	622					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)	CAAAAGTCTCCGAGGTGCCAA	0.463													C|||	1	0.000199681	0	0	5008	,	,		19656	0		0	False		,,,				2504	0.001																0													124	119	121					3																	185929635		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1866G>A	3.37:g.185929635C>T			B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.S622	ENST00000265022.3	37	c.1866	CCDS3274.1	3																																																																																			DGKG	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000058866		0.463	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	-	0	55	0	C			185929635	-1	tier1	-	no_errors	ENST00000265022	ensembl	human	known	74_37	silent	23.53	39	12	SNP	0.008	T	T	185929635	C	T	185929635	2	4	179	1	0	0	0	0	0	0	0	1	4483	639	23	1		1	DGKG	3	185929635	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	289785	185929635	12092795	56	44491											
PDE6B	5158	genome.wustl.edu	37	chr4	652796	652796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgatgaggacgagctggGcgaaatcctggtaagaacct	11	7	14	9	3	0	2	0	1	0	1	1	6	1	3	2	3	3	2	2	3	3	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:652796G>T	ENST00000496514.1	+	11	1478	c.1457G>T	c.(1456-1458)gGc>gTc	p.G486V	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.G486V|PDE6B_ENST00000429163.2_Missense_Mutation_p.G207V			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	486					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)	GACGAGCTGGGCGAAATCCTG	0.612																																					GBM(71;463 1194 9848 25922 46834)												0													120	89	100					4																	652796		2203	4300	6503	SO:0001583	missense	0			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.1457G>T	4.37:g.652796G>T	ENSP00000420295:p.Gly486Val		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.G486V	ENST00000496514.1	37	c.1457	CCDS33932.1	4	.	.	.	.	.	.	.	.	.	.	G	0.189	-1.055014	0.01965	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.65916	-0.02;-0.02;-0.18	4.98	2.22	0.28083	.	0.782790	0.11400	N	0.567916	T	0.30759	0.0775	N	0.02539	-0.55	0.18873	N	0.999988	B;B	0.09022	0.001;0.002	B;B	0.10450	0.002;0.005	T	0.23261	-1.0193	10	0.15066	T	0.55	.	5.5876	0.17283	0.1774:0.3058:0.5168:0.0	.	486;486	P35913;P35913-2	PDE6B_HUMAN;.	V	486;486;207	ENSP00000255622:G486V;ENSP00000420295:G486V;ENSP00000406334:G207V	ENSP00000255622:G486V	G	+	2	0	PDE6B	642796	0.000000	0.05858	0.456000	0.27044	0.150000	0.21749	-0.228000	0.09114	0.479000	0.27511	0.462000	0.41574	GGC	PDE6B	-	NULL	ENSG00000133256		0.612	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1		0	28	0	G	NM_000283		652796	1			no_errors	ENST00000496514	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.001	T	T	652796	G	T	652796	3	4	179	1	0	0	0	0	1	0	0	0	11685	1203	42	3	1499	3	PDE6B	4	652796	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09		652796	190501480	57	44492											
HGFAC	3083	genome.wustl.edu	37	chr4	3443800	3443800	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcctcctcctcctcctGctgctgctgctgctgccacg	1	12	7	21	1	0	0	0	0	0	0	5	0	5	0	7	0	6	5	7	0	0	1	rs372137428		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:3443800G>C	ENST00000382774.3	+	1	187	c.72G>C	c.(70-72)ctG>ctC	p.L24L	HGFAC_ENST00000511533.1_Silent_p.L24L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	24					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)		TCCTCCTCCTGCTGCTGCTGC	0.716													G|||	1	0.000199681	8e-04	0	5008	,	,		13355	0		0	False		,,,				2504	0																0								G		5,3433		0,5,1714	13	16	15		72	0.1	1	4		15	0,7164		0,0,3582	no	coding-synonymous	HGFAC	NM_001528.2		0,5,5296	CC,CG,GG		0.0,0.1454,0.0472		24/656	3443800	5,10597	1719	3582	5301	SO:0001819	synonymous_variant	0			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.72G>C	4.37:g.3443800G>C			Q14726|Q2M1W7|Q53X47	Silent	SNP	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L24	ENST00000382774.3	37	c.72	CCDS3369.1	4																																																																																			HGFAC	-	pirsf_Coagulation_fac_XIIa/HGFA	ENSG00000109758		0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3		0	26	0	G			3443800	1			no_errors	ENST00000382774	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.998	C	C	3443800	G	C	3443800	2	2	179	1	0	0	0	0	0	0	0	1	7113	1306	46	5		5	HGFAC	4	3443800	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	2791004	3443800	187710476	58	44493											
G3BP2	9908	genome.wustl.edu	37	chr4	76587143	76587143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattccggagctttattcaGcaaagtataatattgcctca	13	14	6	8	1	2	0	2	0	0	0	3	1	3	1	2	1	3	3	2	1	6	9			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:76587143G>A	ENST00000359707.4	-	2	852	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L	G3BP2_ENST00000357854.3_Silent_p.L23L|Y_RNA_ENST00000364774.1_RNA|G3BP2_ENST00000502654.1_Intron|G3BP2_ENST00000395719.3_Silent_p.L23L	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	23	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				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)			GCTTTATTCAGCAAAGTATAA	0.363																																																	0													59	63	62					4																	76587143		2203	4300	6503	SO:0001819	synonymous_variant	0			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.67C>T	4.37:g.76587143G>A			A8K6X1|O60606|O75149|Q9UPA1	Silent	SNP	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.L23	ENST00000359707.4	37	c.67	CCDS3571.1	4																																																																																			G3BP2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000138757		0.363	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	G3BP2	HGNC	protein_coding	OTTHUMT00000252399.2		0	86	0	G	NM_012297		76587143	-1			no_errors	ENST00000359707	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	A	A	76587143	G	A	76587143	2	1	179	1	0	0	0	0	0	0	0	1	6166	962	34	3		3	G3BP2	4	76587143	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	73143343	76587143	114567133	59	44494											
IBSP	3381	genome.wustl.edu	37	chr4	88732603	88732603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatgaaaacgaagaaagCgaagcagaagtggatgaaaa	22	3	13	3	2	0	4	0	2	0	2	0	8	0	6	0	2	3	1	0	2	9	0	rs200405481		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:88732603C>A	ENST00000226284.5	+	7	562	c.495C>A	c.(493-495)agC>agA	p.S165R		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	165	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.S165S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.458																																																	1	Substitution - coding silent(1)	large_intestine(1)						C	ARG/SER	1,4405	2.1+/-5.4	0,1,2202	137	127	131		495	-0.3	0.9	4		131	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IBSP	NM_004967.3	110	0,2,6501	AA,AC,CC		0.0116,0.0227,0.0154	benign	165/318	88732603	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.495C>A	4.37:g.88732603C>A	ENSP00000226284:p.Ser165Arg			Missense_Mutation	SNP	pfam_BSP_II	p.S165R	ENST00000226284.5	37	c.495	CCDS3624.1	4	.	.	.	.	.	.	.	.	.	.	C	8.464	0.856007	0.17106	2.27E-4	1.16E-4	ENSG00000029559	ENST00000226284	T	0.11385	2.78	4.64	-0.33	0.12683	.	1.050360	0.07355	N	0.883079	T	0.08447	0.0210	N	0.24115	0.695	0.20638	N	0.999871	P	0.35174	0.488	B	0.42188	0.379	T	0.37842	-0.9688	10	0.37606	T	0.19	.	1.6325	0.02735	0.146:0.3633:0.1389:0.3518	.	165	P21815	SIAL_HUMAN	R	165	ENSP00000226284:S165R	ENSP00000226284:S165R	S	+	3	2	IBSP	88951627	0.684000	0.27642	0.950000	0.38849	0.851000	0.48451	-0.462000	0.06704	-0.235000	0.09767	0.591000	0.81541	AGC	IBSP	-	pfam_BSP_II	ENSG00000029559		0.458	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2		0	29	0	C			88732603	1			no_errors	ENST00000226284	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.693	A	A	88732603	C	A	88732603	3	1	179	1	0	0	0	0	1	0	0	0	7502	767	27	2	517	2	IBSP	4	88732603	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	12145460	88732603	102421673	60	44495											
KIAA1109	84162	genome.wustl.edu	37	chr4	123145797	123145797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catggttaattgatgtgcagGctggaagtcttacagctaag	11	12	12	6	0	1	1	0	1	1	0	1	2	1	2	0	3	3	4	0	3	4	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:123145797G>T	ENST00000264501.4	+	23	3131	c.2758G>T	c.(2758-2760)Gct>Tct	p.A920S	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.A920S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A920S			Q2LD37	K1109_HUMAN	KIAA1109	920					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						TGATGTGCAGGCTGGAAGTCT	0.448																																																	0													119	121	120					4																	123145797		1960	4149	6109	SO:0001583	missense	0			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.2758G>T	4.37:g.123145797G>T	ENSP00000264501:p.Ala920Ser		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.A920S	ENST00000264501.4	37	c.2758	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.964016|3.964016	0.74131|0.74131	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000449251|ENST00000424425	T;T;T;T|.	0.50277|.	0.75;0.75;0.75;0.75|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.43416|.	U|.	0.000562|.	T|T	0.71384|0.71384	0.3333|0.3333	L|L	0.53249|0.53249	1.67|1.67	0.52501|0.52501	D|D	0.999956|0.999956	D;D|.	0.76494|.	0.999;0.99|.	D;P|.	0.74348|.	0.983;0.76|.	T|T	0.68131|0.68131	-0.5490|-0.5490	10|5	0.56958|.	D|.	0.05|.	.|.	19.1724|19.1724	0.93583|0.93583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	920;920|.	Q2LD37-5;Q2LD37|.	.;K1109_HUMAN|.	S|V	920;920;920;128|751	ENSP00000264501:A920S;ENSP00000373390:A920S;ENSP00000389925:A920S;ENSP00000413018:A128S|.	ENSP00000264501:A920S|.	A|G	+|+	1|2	0|0	KIAA1109|KIAA1109	123365247|123365247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.526000|5.526000	0.67116|0.67116	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	GCT|GGC	KIAA1109	-	NULL	ENSG00000138688		0.448	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0	47	0	G	NM_020797		123145797	1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	71.43	12	30	SNP	1.000	T	T	123145797	G	T	123145797	3	4	179	1	0	0	0	0	1	0	0	0	8235	1203	42	3	2840	3	KIAA1109	4	123145797	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	34413194	123145797	68008479	61	44496											
FBXW7	55294	genome.wustl.edu	37	chr4	153250883	153250883	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagaaccactaactattcGgttaccacaaaactgtaagc	16	9	5	11	1	1	1	1	0	0	1	2	1	1	1	2	1	5	2	2	1	7	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr4:153250883G>A	ENST00000281708.4	-	8	2406	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R313*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R393*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R217*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R275*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R393*	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:0001587	stop_gained	0			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.1177C>T	4.37:g.153250883G>A	ENSP00000281708:p.Arg393*		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R393*	ENST00000281708.4	37	c.1177	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966716	0.74131	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.99	4.05	0.47172	.	0.053576	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7554	12.3616	0.55207	0.0:0.0953:0.6907:0.214	.	.	.	.	X	393;275;313;217	.	ENSP00000263981:R313X	R	-	1	2	FBXW7	153470333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.416000	0.66417	1.513000	0.48852	0.650000	0.86243	CGA	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109670		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	-	0	47	0	G			153250883	-1	tier1	-	no_errors	ENST00000281708	ensembl	human	known	74_37	nonsense	80.00	8	32	SNP	1.000	A	A	153250883	G	A	153250883	4	1	179	1	0	0	0	0	0	1	0	0	5791	1124	39	1	966	1	FBXW7	4	153250883	Nonsense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	30105086	153250883	37903393	62	44497											
CDH10	1008	genome.wustl.edu	37	chr5	24511486	24511486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccttctcagtcacgatgtCaaacatatcagtaccgtcac	11	11	6	13	2	5	0	5	0	1	0	7	1	6	0	2	0	2	1	2	0	3	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:24511486C>G	ENST00000264463.4	-	6	1459	c.952G>C	c.(952-954)Gac>Cac	p.D318H		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	318	Cadherin 3. {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)		GTCACGATGTCAAACATATCA	0.433										HNSCC(23;0.051)																																							0													271	216	235					5																	24511486		2203	4300	6503	SO:0001583	missense	0			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.952G>C	5.37:g.24511486C>G	ENSP00000264463:p.Asp318His		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D318H	ENST00000264463.4	37	c.952	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154222	0.38021	.	.	ENSG00000040731	ENST00000264463	T	0.01787	4.64	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.101653	0.64402	D	0.000004	T	0.02494	0.0076	L	0.38649	1.16	0.43622	D	0.996009	B	0.25850	0.136	B	0.32342	0.144	T	0.53408	-0.8443	10	0.72032	D	0.01	.	11.2628	0.49093	0.0:0.9164:0.0:0.0836	.	318	Q9Y6N8	CAD10_HUMAN	H	318	ENSP00000264463:D318H	ENSP00000264463:D318H	D	-	1	0	CDH10	24547243	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	1.915000	0.39976	2.410000	0.81850	0.650000	0.86243	GAC	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.433	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0	49	0	C	NM_006727		24511486	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	missense	71.19	17	42	SNP	1.000	G	G	24511486	C	G	24511486	3	3	179	1	0	0	0	0	1	0	0	0	3103	826	29	5	1442	5	CDH10	5	24511486	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09		24511486	156403774	63	44498											
C5orf42	65250	genome.wustl.edu	37	chr5	37183047	37183047	+	Silent	SNP	G	G	A	0	0	1	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	ccttatcatccattccagcaGtcttcctatactgccaaaag	11	12	4	14	0	2	0	1	0	1	0	5	0	5	0	5	0	3	1	5	0	5	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:37183047G>A	ENST00000508244.1	-	25	5329	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	C5orf42_ENST00000425232.2_Silent_p.L1746L|C5orf42_ENST00000274258.7_Silent_p.L627L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1746						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)			CATTCCAGCAGTCTTCCTATA	0.378																																																	0													110	105	107					5																	37183047		2203	4300	6503	SO:0001819	synonymous_variant	0				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.5236C>T	5.37:g.37183047G>A			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	superfamily_Quino_amine_DH_bsu	p.L1746	ENST00000508244.1	37	c.5236	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.378	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0	46	0	G	NM_023073		37183047	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	silent	59.52	17	25	SNP	0.654	A	A	37183047	G	A	37183047	2	1	179	1	0	0	0	0	0	0	0	1	2308	1020	36	3		3	C5orf42	5	37183047	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	12671561	37183047	143732213	64	44499											
GPBP1	65056	genome.wustl.edu	37	chr5	56510008	56510008	+	Silent	SNP	A	A	G	1	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	cttaatttccctactccaccAtcatcaacaaaggtactctt	12	13	2	14	0	3	0	2	0	1	0	5	0	5	0	3	1	3	1	3	1	5	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:56510008A>G	ENST00000506184.2	+	3	1156	c.51A>G	c.(49-51)ccA>ccG	p.P17P	GPBP1_ENST00000264779.6_Silent_p.P17P|GPBP1_ENST00000514387.2_Intron|GPBP1_ENST00000454432.2_Silent_p.P17P|GPBP1_ENST00000424459.3_Silent_p.P17P|GPBP1_ENST00000511209.1_Silent_p.P17P|GPBP1_ENST00000538707.1_Silent_p.P17P			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	17					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)		CTACTCCACCATCATCAACAA	0.413																																																	0													244	208	220					5																	56510008		2203	4300	6503	SO:0001819	synonymous_variant	0				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.51A>G	5.37:g.56510008A>G			A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Silent	SNP	NULL	p.P17	ENST00000506184.2	37	c.51	CCDS34162.1	5																																																																																			GPBP1	-	NULL	ENSG00000062194		0.413	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	HGNC	protein_coding	OTTHUMT00000374496.1	-	0	50	0	A	NM_022913		56510008	1	tier1	-	no_errors	ENST00000424459	ensembl	human	known	74_37	silent	75.44	14	43	SNP	1.000	G	G	56510008	A	G	56510008	2	3	179	1	0	0	0	0	0	0	0	1	6621	204	8	4		4	GPBP1	5	56510008	Silent	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09	19326961	56510008	124405252	65	44500											
RNF180	285671	genome.wustl.edu	37	chr5	63509747	63509747	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatgaagaacgaaaaactGctgtccaaagcatcagaacc	18	5	9	9	1	1	4	1	1	0	3	2	6	2	4	2	0	5	2	2	0	6	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:63509747G>T	ENST00000389100.4	+	4	666	c.594G>T	c.(592-594)ctG>ctT	p.L198L	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Silent_p.L198L	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	198					adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ACGAAAAACTGCTGTCCAAAG	0.418																																																	0													57	64	61					5																	63509747		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"RING-type (C3HC4) zinc fingers"	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.594G>T	5.37:g.63509747G>T			Q0JSU3|Q495A8|Q8NBD1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L198	ENST00000389100.4	37	c.594	CCDS47219.1	5																																																																																			RNF180	-	NULL	ENSG00000164197		0.418	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF180	HGNC	protein_coding	OTTHUMT00000368394.1		0	51	0	G	NM_178532		63509747	1			no_errors	ENST00000389100	ensembl	human	known	74_37	silent	6.45	29	2	SNP	1.000	T	T	63509747	G	T	63509747	2	4	179	1	0	0	0	0	0	0	0	1	13509	1306	46	3		3	RNF180	5	63509747	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	6999739	63509747	117405513	66	44501											
FCHO2	115548	genome.wustl.edu	37	chr5	72364588	72364588	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	catctgcttcattgagtgctGccaatactccaacagtaggt	10	12	8	11	0	2	1	1	1	1	0	3	1	3	1	2	1	5	3	2	1	4	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:72364588G>T	ENST00000430046.2	+	19	1677	c.1561G>T	c.(1561-1563)Gcc>Tcc	p.A521S	FCHO2_ENST00000341845.6_Missense_Mutation_p.A521S|FCHO2_ENST00000512348.1_Missense_Mutation_p.A488S	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	521	Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		ATTGAGTGCTGCCAATACTCC	0.408																																																	0													87	90	89					5																	72364588		1933	4141	6074	SO:0001583	missense	0			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.1561G>T	5.37:g.72364588G>T	ENSP00000393776:p.Ala521Ser		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.A521S	ENST00000430046.2	37	c.1561	CCDS47230.1	5	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863081	0.32884	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.36878	1.23;1.23;3.66	5.97	5.97	0.96955	.	0.406008	0.25897	N	0.027598	T	0.28830	0.0715	L	0.29908	0.895	0.41560	D	0.988628	B;B	0.21520	0.057;0.011	B;B	0.15052	0.012;0.005	T	0.14200	-1.0481	10	0.08599	T	0.76	-4.7339	20.4324	0.99085	0.0:0.0:1.0:0.0	.	488;521	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	S	521;521;488	ENSP00000393776:A521S;ENSP00000344034:A521S;ENSP00000427296:A488S	ENSP00000344034:A521S	A	+	1	0	FCHO2	72400344	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.370000	0.79589	2.833000	0.97629	0.585000	0.79938	GCC	FCHO2	-	NULL	ENSG00000157107		0.408	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	-	0	39	0	G	XM_291142		72364588	1	tier1	-	no_errors	ENST00000341845	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	72364588	G	T	72364588	3	4	179	1	0	0	0	0	1	0	0	0	5810	1319	46	3	1635	3	FCHO2	5	72364588	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	8854841	72364588	108550672	67	44502											
CMYA5	202333	genome.wustl.edu	37	chr5	79029456	79029456	+	Missense_Mutation	SNP	A	A	G	1	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	agagctgtctttggaacctgAgaagaaagacaagccacacc	15	6	10	10	0	1	4	0	1	1	4	1	6	1	5	3	1	3	1	3	1	4	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:79029456A>G	ENST00000446378.2	+	2	4899	c.4868A>G	c.(4867-4869)gAg>gGg	p.E1623G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1623					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)		TTGGAACCTGAGAAGAAAGAC	0.433																																																	0													80	82	81					5																	79029456		1860	4103	5963	SO:0001583	missense	0			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.4868A>G	5.37:g.79029456A>G	ENSP00000394770:p.Glu1623Gly		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E1623G	ENST00000446378.2	37	c.4868	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	11.36	1.616624	0.28801	.	.	ENSG00000164309	ENST00000446378	T	0.04809	3.55	4.94	1.22	0.21188	.	0.434799	0.19344	N	0.116579	T	0.04182	0.0116	L	0.47190	1.495	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.37361	-0.9709	10	0.40728	T	0.16	.	2.9572	0.05881	0.6232:0.0:0.1954:0.1814	.	1623	Q8N3K9	CMYA5_HUMAN	G	1623	ENSP00000394770:E1623G	ENSP00000394770:E1623G	E	+	2	0	CMYA5	79065212	0.067000	0.21026	0.012000	0.15200	0.134000	0.20937	0.460000	0.21924	0.238000	0.21222	-0.361000	0.07541	GAG	CMYA5	-	NULL	ENSG00000164309		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	34	0	A	NM_153610		79029456	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.166	G	G	79029456	A	G	79029456	3	3	179	1	0	0	0	0	1	0	0	0	3597	304	11	4	4874	4	CMYA5	5	79029456	Missense_Mutation	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09	6664868	79029456	101885804	68	44503											
PCDHAC2	56134	genome.wustl.edu	37	chr5	140347416	140347416	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaaggtgctggtggacatCgtggacgtgaatgacaatgc	10	9	15	7	2	0	2	0	2	0	0	1	4	0	4	0	4	3	2	0	4	3	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:140347416C>T	ENST00000289269.5	+	1	1597	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	355	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGACATCGTGGACGTGA	0.577																																					Melanoma(190;638 2083 3390 11909 52360)												0													78	66	70					5																	140347416		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1065C>T	5.37:g.140347416C>T			Q2M3V1|Q9Y5F4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I355	ENST00000289269.5	37	c.1065	CCDS4242.1	5																																																																																			PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000243232		0.577	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2		0	42	0	C	NM_018899		140347416	1			no_errors	ENST00000289269	ensembl	human	known	74_37	silent	5.77	49	3	SNP	0.024	T	T	140347416	C	T	140347416	2	4	179	1	0	0	0	0	0	0	0	1	11572	874	31	1		1	PCDHAC2	5	140347416	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	61317960	140347416	40567844	69	44504											
PCDHB2	56133	genome.wustl.edu	37	chr5	140476081	140476081	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgtacccgctgcagaaCggctccgcgccctgcaccga	6	6	12	17	5	0	1	0	0	0	1	1	2	1	1	4	1	5	6	4	1	2	1	rs200168689		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:140476081C>T	ENST00000194155.4	+	1	1855	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	569					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.N569>?(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)			CGCTGCAGAACGGCTCCGCGC	0.726																																																	1	Complex(1)	NS(1)											9	11	10					5																	140476081		2108	4060	6168	SO:0001819	synonymous_variant	0			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.1707C>T	5.37:g.140476081C>T			Q4KMU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N569	ENST00000194155.4	37	c.1707	CCDS4244.1	5																																																																																			PCDHB2	-	superfamily_Cadherin-like	ENSG00000112852		0.726	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	-	0	82	0	C	NM_018936		140476081	1	tier1	rs200168689	no_errors	ENST00000194155	ensembl	human	known	74_37	silent	43.31	69	55	SNP	0.994	T	T	140476081	C	T	140476081	2	4	179	1	0	0	0	0	0	0	0	1	11581	535	19	1		1	PCDHB2	5	140476081	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	128665	140476081	40439179	70	44505											
CAMK2A	815	genome.wustl.edu	37	chr5	149618297	149618297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgatggtggtgttggtGctctctgaggattcctgcca	4	14	13	10	1	1	1	0	1	1	0	5	3	3	2	3	4	2	2	3	4	0	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:149618297G>T	ENST00000348628.6	-	14	1664	c.999C>A	c.(997-999)agC>agA	p.S333R	CAMK2A_ENST00000398376.3_Missense_Mutation_p.S344R|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	333					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTGTTGGTGCTCTCTGAGG	0.597																																																	0													82	87	85					5																	149618297		2042	4188	6230	SO:0001583	missense	0			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.999C>A	5.37:g.149618297G>T	ENSP00000261793:p.Ser333Arg		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S344R	ENST00000348628.6	37	c.1032	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952819	0.53293	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.69040	-0.37;-0.36	5.43	3.31	0.37934	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.74647	2.275	0.58432	D	0.999994	P;D;P;D	0.67145	0.798;0.996;0.696;0.996	P;D;B;D	0.65233	0.578;0.933;0.374;0.933	T	0.78481	-0.2187	10	0.72032	D	0.01	.	9.3317	0.38025	0.2859:0.0:0.7141:0.0	.	344;333;344;333	Q9UQM7-2;Q9UQM7;A8K161;Q7LDD5	.;KCC2A_HUMAN;.;.	R	333;344	ENSP00000261793:S333R;ENSP00000381412:S344R	ENSP00000261793:S333R	S	-	3	2	CAMK2A	149598490	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.454000	0.35178	1.245000	0.43885	0.561000	0.74099	AGC	CAMK2A	-	superfamily_Kinase-like_dom	ENSG00000070808		0.597	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2		0	36	0	G	NM_015981		149618297	-1			no_errors	ENST00000398376	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	149618297	G	T	149618297	3	4	179	1	0	0	0	0	1	0	0	0	2606	1310	46	3	457	3	CAMK2A	5	149618297	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	9142216	149618297	31296963	71	44506											
SLIT3	6586	genome.wustl.edu	37	chr5	168201256	168201256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacagtgtctggatggactGcagaggggcgaagagcccct	9	7	15	10	1	2	2	1	0	1	2	2	5	2	4	2	4	2	1	2	4	1	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:168201256G>T	ENST00000519560.1	-	13	1698	c.1279C>A	c.(1279-1281)Cag>Aag	p.Q427K	SLIT3_ENST00000404867.3_Missense_Mutation_p.Q427K|SLIT3_ENST00000332966.8_Missense_Mutation_p.Q427K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	427					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)			TGGATGGACTGCAGAGGGGCG	0.567																																					Ovarian(29;311 847 10864 17279 24903)												0													167	161	163					5																	168201256		2203	4300	6503	SO:0001583	missense	0			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.1279C>A	5.37:g.168201256G>T	ENSP00000430333:p.Gln427Lys		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q427K	ENST00000519560.1	37	c.1279	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496190	0.44352	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.23147	1.92;1.92;1.92	5.5	5.5	0.81552	.	0.156390	0.64402	D	0.000013	T	0.17066	0.0410	N	0.05158	-0.105	0.45962	D	0.998789	P;B;B	0.34615	0.459;0.012;0.002	B;B;B	0.37144	0.242;0.027;0.01	T	0.12967	-1.0527	10	0.26408	T	0.33	.	19.4314	0.94768	0.0:0.0:1.0:0.0	.	427;427;427	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	K	427	ENSP00000430333:Q427K;ENSP00000332164:Q427K;ENSP00000384890:Q427K	ENSP00000332164:Q427K	Q	-	1	0	SLIT3	168133834	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.637000	0.61346	2.588000	0.87417	0.650000	0.86243	CAG	SLIT3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000184347		0.567	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0	54	0	G	NM_003062		168201256	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	168201256	G	T	168201256	3	4	179	1	0	0	0	0	1	0	0	0	14786	1328	46	3	3388	3	SLIT3	5	168201256	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	18582959	168201256	12714004	72	44507											
F12	2161	genome.wustl.edu	37	chr5	176832801	176832801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaagttgggggtggtaGcacacctgtagaaagagaca	14	7	14	6	0	1	2	1	0	0	2	1	4	1	2	1	3	1	4	1	3	4	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr5:176832801G>T	ENST00000253496.3	-	4	269	c.221C>A	c.(220-222)gCt>gAt	p.A74D	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	74	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GGGGGTGGTAGCACACCTGTA	0.582									Hereditary Angioedema																																								0													93	96	95					5																	176832801		2203	4300	6503	SO:0001583	missense	0	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.221C>A	5.37:g.176832801G>T	ENSP00000253496:p.Ala74Asp		P78339	Missense_Mutation	SNP	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1	p.A74D	ENST00000253496.3	37	c.221	CCDS34302.1	5	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613902	0.87359	.	.	ENSG00000131187	ENST00000253496	T	0.63580	-0.05	5.64	5.64	0.86602	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.000000	0.48286	D	0.000187	D	0.84602	0.5508	H	0.95365	3.66	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	D	0.88956	0.3390	10	0.87932	D	0	.	16.6322	0.85037	0.0:0.0:1.0:0.0	.	74	P00748	FA12_HUMAN	D	74	ENSP00000253496:A74D	ENSP00000253496:A74D	A	-	2	0	F12	176765407	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.177000	0.65032	2.664000	0.90586	0.655000	0.94253	GCT	F12	-	pirsf_Coagulation_fac_XIIa/HGFA,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000131187		0.582	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F12	HGNC	protein_coding	OTTHUMT00000373217.1	-	0	67	0	G			176832801	-1	tier1	-	no_errors	ENST00000253496	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	176832801	G	T	176832801	3	4	179	1	0	0	0	0	1	0	0	0	5355	971	34	3	1670	3	F12	5	176832801	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	8631545	176832801	4082459	73	44508											
CD83	9308	genome.wustl.edu	37	chr6	14133922	14133922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacttttaagaaatacaGagcggagattgtcctgctgc	13	10	11	7	1	0	4	0	0	0	4	1	6	1	4	1	1	4	1	1	1	3	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:14133922G>T	ENST00000379153.3	+	4	596	c.425G>T	c.(424-426)aGa>aTa	p.R142I		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	142					defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				AAGAAATACAGAGCGGAGATT	0.353																																																	0													130	133	132					6																	14133922		2203	4300	6503	SO:0001583	missense	0			Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1703	protein-coding gene	gene with protein product		604534	"CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)", "CD83 molecule "			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.425G>T	6.37:g.14133922G>T	ENSP00000368450:p.Arg142Ile		Q5THX9	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.R142I	ENST00000379153.3	37	c.425	CCDS4532.1	6	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706645	0.48412	.	.	ENSG00000112149	ENST00000379153	T	0.48201	0.82	5.71	2.94	0.34122	.	0.260767	0.31381	N	0.007744	T	0.34658	0.0905	L	0.36672	1.1	0.47308	D	0.999381	P	0.52316	0.952	P	0.54460	0.753	T	0.28586	-1.0039	10	0.72032	D	0.01	0.0567	7.7022	0.28630	0.2451:0.0:0.7549:0.0	.	142	Q01151	CD83_HUMAN	I	142	ENSP00000368450:R142I	ENSP00000368450:R142I	R	+	2	0	CD83	14241901	0.995000	0.38212	1.000000	0.80357	0.191000	0.23601	0.442000	0.21628	1.416000	0.47057	0.655000	0.94253	AGA	CD83	-	NULL	ENSG00000112149		0.353	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD83	HGNC	protein_coding	OTTHUMT00000039916.1	-	0	34	0	G			14133922	1	tier1	-	no_errors	ENST00000379153	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.996	T	T	14133922	G	T	14133922	3	4	179	1	0	0	0	0	1	0	0	0	3048	942	33	3	439	3	CD83	6	14133922	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09		14133922	156981145	74	44509											
SLC17A4	10050	genome.wustl.edu	37	chr6	25769299	25769299	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	aacaaatgaacttgagcattGccatcccagctatggtgaac	14	9	8	10	0	0	3	0	3	0	0	1	3	1	3	2	1	6	2	2	1	5	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:25769299G>A	ENST00000377905.4	+	3	297	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	SLC17A4_ENST00000397076.2_Missense_Mutation_p.A6T|SLC17A4_ENST00000439485.2_Missense_Mutation_p.A60T	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	60					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						CTTGAGCATTGCCATCCCAGC	0.502																																																	0													115	112	113					6																	25769299		2203	4300	6503	SO:0001583	missense	0			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.178G>A	6.37:g.25769299G>A	ENSP00000367137:p.Ala60Thr		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A60T	ENST00000377905.4	37	c.178	CCDS4564.1	6	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698432	0.68386	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.80653	0.04;0.21;-1.4	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.470401	0.18224	N	0.147792	T	0.78027	0.4219	L	0.28694	0.88	0.27357	N	0.956079	D;D	0.76494	0.999;0.973	D;P	0.85130	0.997;0.889	T	0.71045	-0.4706	10	0.31617	T	0.26	.	14.8838	0.70553	0.0:0.0:1.0:0.0	.	60;60	E7EPE8;Q9Y2C5	.;S17A4_HUMAN	T	60;60;6	ENSP00000367137:A60T;ENSP00000391345:A60T;ENSP00000380266:A6T	ENSP00000367137:A60T	A	+	1	0	SLC17A4	25877278	0.939000	0.31865	0.977000	0.42913	0.774000	0.43823	1.337000	0.33862	2.656000	0.90262	0.563000	0.77884	GCC	SLC17A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146039		0.502	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	-	0	52	0	G			25769299	1	tier1	-	no_errors	ENST00000377905	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A	A	25769299	G	A	25769299	3	1	179	1	0	0	0	0	1	0	0	0	14464	1319	46	3	184	3	SLC17A4	6	25769299	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	11635377	25769299	145345768	75	44510											
OR10C1	442194	genome.wustl.edu	37	chr6	29408609	29408609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atccggccactgaccctctgGtgtccctcttctatgctgtg	4	13	9	15	1	3	1	0	1	3	0	5	1	5	1	4	2	1	1	4	2	1	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:29408609G>T	ENST00000444197.2	+	1	1527	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	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)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGACCCTCTGGTGTCCCTCTT	0.547																																																	0													198	216	209					6																	29408609		1511	2709	4220	SO:0001583	missense	0				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.817G>T	6.37:g.29408609G>T	ENSP00000419119:p.Val273Leu		Q5SUN7|Q96R18	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V273L	ENST00000444197.2	37	c.817	CCDS34364.1	6	.	.	.	.	.	.	.	.	.	.	G	0.395	-0.921603	0.02396	.	.	ENSG00000206474	ENST00000444197	T	0.37235	1.21	3.54	0.24	0.15489	GPCR, rhodopsin-like superfamily (1);	0.280175	0.18930	N	0.127260	T	0.04724	0.0128	N	0.16166	0.38	0.21445	N	0.999688	B	0.02656	0.0	B	0.04013	0.001	T	0.43988	-0.9357	10	0.02654	T	1	.	9.319	0.37952	0.0:0.2232:0.6646:0.1122	.	273	Q96KK4	O10C1_HUMAN	L	273	ENSP00000419119:V273L	ENSP00000419119:V273L	V	+	1	0	OR10C1	29516588	0.000000	0.05858	0.839000	0.33178	0.946000	0.59487	-2.336000	0.01105	0.179000	0.19938	-0.233000	0.12211	GTG	OR10C1	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000206474		0.547	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10C1	HGNC	protein_coding	OTTHUMT00000076415.2	-	0	38	0	G			29408609	1	tier1	-	no_errors	ENST00000444197	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.503	T	T	29408609	G	T	29408609	3	4	179	1	0	0	0	0	1	0	0	0	10937	1261	44	3	819	3	OR10C1	6	29408609	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	3639310	29408609	141706458	76	44511											
ANKS1A	23294	genome.wustl.edu	37	chr6	35048806	35048806	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagacgtcatccccactGagtcagaatgattcctgcac	10	9	7	15	1	2	4	2	2	0	2	5	4	5	4	4	0	1	1	4	0	1	1	rs371574315		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:35048806G>T	ENST00000360359.3	+	17	2718	c.2580G>T	c.(2578-2580)ctG>ctT	p.L860L	ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	860					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CATCCCCACTGAGTCAGAATG	0.597																																																	0													142	120	128					6																	35048806		2203	4300	6503	SO:0001819	synonymous_variant	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2580G>T	6.37:g.35048806G>T			A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.L860	ENST00000360359.3	37	c.2580	CCDS4798.1	6																																																																																			ANKS1A	-	NULL	ENSG00000064999		0.597	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	-	0	45	0	G	XM_166478		35048806	1	tier1	-	no_errors	ENST00000360359	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T	T	35048806	G	T	35048806	2	4	179	1	0	0	0	0	0	0	0	1	688	1277	45	3		3	ANKS1A	6	35048806	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	5640197	35048806	136066261	77	44512											
CUL9	23113	genome.wustl.edu	37	chr6	43154799	43154799	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataaggcttcagcagctgtGgagaagggggcaggggctac	10	6	18	7	0	1	1	1	0	0	1	1	3	1	1	0	6	3	5	0	6	3	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:43154799G>T	ENST00000252050.4	+	5	1437	c.1353G>T	c.(1351-1353)gtG>gtT	p.V451V	CUL9_ENST00000354495.3_Intron|CUL9_ENST00000372647.2_Silent_p.V451V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	451					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						CAGCAGCTGTGGAGAAGGGGG	0.567																																																	0													58	54	55					6																	43154799		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1353G>T	6.37:g.43154799G>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.V451	ENST00000252050.4	37	c.1353	CCDS4890.1	6																																																																																			CUL9	-	NULL	ENSG00000112659		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2		0	31	0	G	NM_015089		43154799	1			no_errors	ENST00000252050	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.100	T	T	43154799	G	T	43154799	2	4	179	1	0	0	0	0	0	0	0	1	4070	1335	47	3		3	CUL9	6	43154799	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	8105993	43154799	127960268	78	44513											
MEP1A	4224	genome.wustl.edu	37	chr6	46803219	46803219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccacagtacttcagagacCcatgtgacccaaacccttgc	11	7	8	15	0	1	2	1	1	0	1	1	3	1	2	4	1	3	1	4	1	2	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:46803219C>A	ENST00000230588.4	+	13	2026	c.2017C>A	c.(2017-2019)Cca>Aca	p.P673T		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	673	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTTCAGAGACCCATGTGACCC	0.612																																																	0													36	30	32					6																	46803219		2203	4300	6503	SO:0001583	missense	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2017C>A	6.37:g.46803219C>A	ENSP00000230588:p.Pro673Thr		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.P673T	ENST00000230588.4	37	c.2017	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262490	0.80358	.	.	ENSG00000112818	ENST00000230588	D	0.91945	-2.94	5.72	5.72	0.89469	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.147330	0.64402	D	0.000006	D	0.92779	0.7704	L	0.45228	1.405	0.58432	D	0.999997	D;D	0.89917	1.0;0.998	D;D	0.71656	0.974;0.929	D	0.89508	0.3769	10	0.19590	T	0.45	-17.1463	19.8829	0.96904	0.0:1.0:0.0:0.0	.	701;673	B7ZL91;Q16819	.;MEP1A_HUMAN	T	673	ENSP00000230588:P673T	ENSP00000230588:P673T	P	+	1	0	MEP1A	46911178	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	4.039000	0.57325	2.717000	0.92951	0.650000	0.86243	CCA	MEP1A	-	pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom	ENSG00000112818		0.612	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1		0	64	0	C	NM_005588		46803219	1			no_errors	ENST00000230588	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	A	A	46803219	C	A	46803219	3	1	179	1	0	0	0	0	1	0	0	0	9513	623	22	3	2067	3	MEP1A	6	46803219	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	3648420	46803219	124311848	79	44514											
ICK	22858	genome.wustl.edu	37	chr6	52876632	52876632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctcagggtgggcgtgtctCgccgctgatatgacgtctgg	5	11	15	10	4	3	2	1	2	3	0	5	2	3	2	1	3	0	1	1	3	1	1	rs55895113		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:52876632C>T	ENST00000350082.5	-	11	1773	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	ICK_ENST00000356971.3_Missense_Mutation_p.R476Q	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	476			R -> Q (in dbSNP:rs55895113). {ECO:0000269|PubMed:17344846}.		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)					GGGCGTGTCTCGCCGCTGATA	0.493																																																	0													101	104	103					6																	52876632		2203	4300	6503	SO:0001583	missense	0			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.1427G>A	6.37:g.52876632C>T	ENSP00000263043:p.Arg476Gln		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R476Q	ENST00000350082.5	37	c.1427	CCDS4949.1	6	.	.	.	.	.	.	.	.	.	.	C	8.905	0.957315	0.18507	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.71341	-0.56;-0.56	5.66	3.64	0.41730	.	0.536026	0.19715	N	0.107702	T	0.20901	0.0503	N	0.04043	-0.29	0.29030	N	0.885777	B	0.13145	0.007	B	0.09377	0.004	T	0.06954	-1.0798	10	0.22706	T	0.39	-10.7503	4.15	0.10234	0.0:0.5342:0.0:0.4658	rs55895113	476	Q9UPZ9	ICK_HUMAN	Q	476	ENSP00000263043:R476Q;ENSP00000349458:R476Q	ENSP00000263043:R476Q	R	-	2	0	ICK	52984591	1.000000	0.71417	0.956000	0.39512	0.270000	0.26580	2.103000	0.41806	1.397000	0.46682	0.561000	0.74099	CGA	ICK	-	NULL	ENSG00000112144		0.493	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	HGNC	protein_coding	OTTHUMT00000040952.1	-	0	30	0	C	NM_016513		52876632	-1	tier1	rs55895113	no_errors	ENST00000350082	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.996	T	T	52876632	C	T	52876632	3	4	179	1	0	0	0	0	1	0	0	0	7511	884	31	1	487	1	ICK	6	52876632	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	6073413	52876632	118238435	80	44515											
HTR1B	3351	genome.wustl.edu	37	chr6	78172544	78172544	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattccgacacctcctcttCggccttagcctgacgccaga	7	9	8	17	3	1	2	0	1	1	1	4	3	3	2	6	1	1	1	6	1	1	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:78172544C>A	ENST00000369947.2	-	1	946	c.577G>T	c.(577-579)Gaa>Taa	p.E193*		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	193					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)	ACCTCCTCTTCGGCCTTAGCC	0.592																																																	0													68	73	71					6																	78172544		2203	4300	6503	SO:0001587	stop_gained	0			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.577G>T	6.37:g.78172544C>A	ENSP00000358963:p.Glu193*		Q4VAY7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam	p.E193*	ENST00000369947.2	37	c.577	CCDS4986.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.300736	0.98196	.	.	ENSG00000135312	ENST00000369947	.	.	.	5.24	3.4	0.38934	.	0.117710	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.273	0.49150	0.1433:0.7188:0.1379:0.0	.	.	.	.	X	193	.	.	E	-	1	0	HTR1B	78229263	1.000000	0.71417	0.986000	0.45419	0.917000	0.54804	5.823000	0.69272	0.724000	0.32296	0.555000	0.69702	GAA	HTR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000135312		0.592	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1B	HGNC	protein_coding	OTTHUMT00000041292.1		0	20	0	C	NM_000863		78172544	-1			no_errors	ENST00000369947	ensembl	human	known	74_37	nonsense	11.11	16	2	SNP	1.000	A	A	78172544	C	A	78172544	4	1	179	1	0	0	0	0	0	1	0	0	7464	893	31	2	599	2	HTR1B	6	78172544	Nonsense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	25295912	78172544	92942523	81	44516											
DOPEY1	23033	genome.wustl.edu	37	chr6	83847134	83847134	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggacaacttgagttacGaagttgatcctgaaaccgtg	11	10	12	8	2	0	3	0	3	0	0	1	5	1	4	2	2	3	2	2	2	4	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:83847134G>T	ENST00000349129.2	+	21	3633	c.3373G>T	c.(3373-3375)Gaa>Taa	p.E1125*	DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.E1116*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.E1106*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1125					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTTGAGTTACGAAGTTGATCC	0.448																																																	0													71	69	70					6																	83847134		2203	4298	6501	SO:0001587	stop_gained	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3373G>T	6.37:g.83847134G>T	ENSP00000195654:p.Glu1125*		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.E1125*	ENST00000349129.2	37	c.3373	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	43	10.465731	0.99410	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.69	5.69	0.88448	.	0.203042	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.8089	0.96540	0.0:0.0:1.0:0.0	.	.	.	.	X	1125;1106;1106	.	ENSP00000237163:E1106X	E	+	1	0	DOPEY1	83903853	1.000000	0.71417	0.987000	0.45799	0.831000	0.47069	7.627000	0.83176	2.677000	0.91161	0.460000	0.39030	GAA	DOPEY1	-	superfamily_ARM-type_fold	ENSG00000083097		0.448	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	-	0	53	0	G	NM_015018		83847134	1	tier1	-	no_errors	ENST00000349129	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	T	T	83847134	G	T	83847134	4	4	179	1	0	0	0	0	0	1	0	0	4721	1059	37	2	3447	2	DOPEY1	6	83847134	Nonsense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	5674590	83847134	87267933	82	44517											
SEC63	11231	genome.wustl.edu	37	chr6	108214708	108214708	+	Missense_Mutation	SNP	T	T	A	0	1	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	tcccaacgactccatttgccTgcttttgtttctgttgcttt	4	19	6	12	1	1	0	0	0	1	0	3	1	3	0	3	0	4	4	3	0	1	6			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:108214708T>A	ENST00000369002.4	-	16	1831	c.1652A>T	c.(1651-1653)cAg>cTg	p.Q551L		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	551					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCCATTTGCCTGCTTTTGTTT	0.313																																																	0													140	136	137					6																	108214708		2203	4300	6503	SO:0001583	missense	0			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1652A>T	6.37:g.108214708T>A	ENSP00000357998:p.Gln551Leu		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain	p.Q551L	ENST00000369002.4	37	c.1652	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836244	0.50951	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.70045	-0.45	5.38	5.38	0.77491	Sec63 domain (2);	0.000000	0.85682	D	0.000000	T	0.68970	0.3059	L	0.50333	1.59	0.80722	D	1	P;D	0.54601	0.558;0.967	B;D	0.65140	0.109;0.932	T	0.67284	-0.5709	10	0.31617	T	0.26	-10.248	15.6841	0.77396	0.0:0.0:0.0:1.0	.	551;551	Q9UGP8;B3KQF0	SEC63_HUMAN;.	L	551;202	ENSP00000357998:Q551L	ENSP00000357998:Q551L	Q	-	2	0	SEC63	108321401	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.934000	0.70138	2.162000	0.67917	0.460000	0.39030	CAG	SEC63	-	superfamily_ARM-type_fold,smart_Sec63-dom	ENSG00000025796		0.313	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4		0	40	0	T	NM_007214		108214708	-1			no_errors	ENST00000369002	ensembl	human	known	74_37	missense	6.19	91	6	SNP	1.000	A	A	108214708	T	A	108214708	3	1	179	1	0	0	0	0	1	0	0	0	14050	1580	55	5	654	5	SEC63	6	108214708	Missense_Mutation	SNP	T	TCGA-XP-A8T7-01A-11D-A36J-09	24367574	108214708	62900359	83	44518											
LATS1	9113	genome.wustl.edu	37	chr6	149997781	149997781	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggcgtgcagctctccGctctaatggcttcagtctgt	4	13	12	12	2	4	0	1	0	3	0	5	0	4	0	1	2	3	5	1	2	1	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr6:149997781G>T	ENST00000543571.1	-	6	3233	c.2686C>A	c.(2686-2688)Cgg>Agg	p.R896R	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Silent_p.R896R	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)		GCAGCTCTCCGCTCTAATGGC	0.502																																																	0													72	67	69					6																	149997781		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2686C>A	6.37:g.149997781G>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R896	ENST00000543571.1	37	c.2686	CCDS34551.1	6																																																																																			LATS1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000131023		0.502	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	-	0	39	0	G	NM_004690		149997781	-1	tier1	-	no_errors	ENST00000253339	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T	T	149997781	G	T	149997781	2	4	179	1	0	0	0	0	0	0	0	1	8674	1086	38	2		2	LATS1	6	149997781	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	41783073	149997781	21117286	84	44519											
INTS1	26173	genome.wustl.edu	37	chr7	1533526	1533526	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaaaatgggcacctcGgagcacagacgcaggaagaa	14	4	11	12	2	0	2	0	0	0	2	3	4	2	4	3	3	1	3	3	3	4	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:1533526G>C	ENST00000404767.3	-	15	2017	c.1932C>G	c.(1930-1932)tcC>tcG	p.S644S	INTS1_ENST00000389470.4_Silent_p.S772S	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	644					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)		TGGGCACCTCGGAGCACAGAC	0.677																																																	0													16	23	21					7																	1533526		2016	4159	6175	SO:0001819	synonymous_variant	0			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.1932C>G	7.37:g.1533526G>C			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.S772	ENST00000404767.3	37	c.2316	CCDS47526.1	7																																																																																			INTS1	-	NULL	ENSG00000164880		0.677	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	-	0	80	0	G			1533526	-1	tier1	-	no_errors	ENST00000389470	ensembl	human	known	74_37	silent	28.09	64	25	SNP	0.002	C	C	1533526	G	C	1533526	2	2	179	1	0	0	0	0	0	0	0	1	7802	1103	39	5		5	INTS1	7	1533526	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09		1533526	157605137	85	44520											
LFNG	3955	genome.wustl.edu	37	chr7	2565060	2565060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	gtcctcaggtggttctgccaCgtggacgatgacaactacgt	8	10	12	11	3	2	1	1	1	1	0	3	3	3	2	2	3	3	1	2	3	2	2	rs571692564		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:2565060C>A	ENST00000222725.5	+	4	614	c.594C>A	c.(592-594)caC>caA	p.H198Q	MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000402045.1_Missense_Mutation_p.H69Q|LFNG_ENST00000338732.3_Missense_Mutation_p.H69Q|LFNG_ENST00000402506.1_Missense_Mutation_p.H127Q|LFNG_ENST00000359574.3_Missense_Mutation_p.H198Q	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	198					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GGTTCTGCCACGTGGACGATG	0.711																																																	0													39	41	40					7																	2565060		2202	4299	6501	SO:0001583	missense	0			BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"Beta 3-glycosyltransferases"	6560	protein-coding gene	gene with protein product		602576	"lunatic fringe (Drosophila) homolog", "lunatic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.594C>A	7.37:g.2565060C>A	ENSP00000222725:p.His198Gln		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	pfam_Fringe-like,pirsf_Fringe	p.H198Q	ENST00000222725.5	37	c.594	CCDS34587.1	7	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508460	0.64410	.	.	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.32	-6.66	0.01789	.	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.92833	3.35	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	T	0.82908	-0.0224	10	0.41790	T	0.15	-28.1863	15.8269	0.78718	0.0:0.222:0.0:0.778	.	198;198	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	Q	127;69;69;198;198	ENSP00000385764:H127Q;ENSP00000384786:H69Q;ENSP00000343095:H69Q;ENSP00000222725:H198Q;ENSP00000352579:H198Q	ENSP00000222725:H198Q	H	+	3	2	LFNG	2531586	0.001000	0.12720	0.891000	0.34965	0.765000	0.43378	-1.652000	0.01988	-1.245000	0.02513	-0.367000	0.07326	CAC	LFNG	-	pfam_Fringe-like,pirsf_Fringe	ENSG00000106003		0.711	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LFNG	HGNC	protein_coding	OTTHUMT00000325021.1	-	0	89	0	C	NM_002304		2565060	1	tier1	-	no_errors	ENST00000222725	ensembl	human	known	74_37	missense	36.11	46	26	SNP	0.775	A	A	2565060	C	A	2565060	3	1	179	1	0	0	0	0	1	0	0	0	8765	535	19	2	884	2	LFNG	7	2565060	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	1031534	2565060	156573603	86	44521											
KDELR2	11014	genome.wustl.edu	37	chr7	6523688	6523689	+	Start_Codon_Ins	INS	-	-	GGC																															gtcagccggaaaatgttcatINSggcggcggcggcggtggcgg																										TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:6523688_6523689insGGC	ENST00000258739.4	-	0	184_185				KDELR2_ENST00000463747.1_5'UTR|DAGLB_ENST00000436575.1_5'UTR|KDELR2_ENST00000490996.1_Start_Codon_Ins|FLJ20306_ENST00000601673.1_In_Frame_Ins_p.22_23insA	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2						intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AAAATGTTCATggcggcggcgg	0.723																																																	0									,	93,3937		6,81,1928					,	3.9	1			10	3,7859		0,3,3928	no	coding,coding	KDELR2	NM_006854.3,NM_001100603.1	,	6,84,5856	A1A1,A1R,RR		0.0382,2.3077,0.8073	,	,		96,11796				SO:0001582	initiator_codon_variant	0			X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.-1_1dupGCC	7.37:g.6523695_6523697dupGGC			A4D2P4|Q6IPC5|Q96E30	In_Frame_Ins	INS	pfam_ER_ret_rcpt,prints_ER_ret_rcpt	p.0in_frame_insA	ENST00000258739.4	37	c.1_2	CCDS5351.1	7																																																																																			KDELR2	-	NULL	ENSG00000136240		0.723	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR2	HGNC	protein_coding	OTTHUMT00000059424.2		0	13	0	-			6523689	-1	tier1		no_errors	ENST00000258739	ensembl	human	known	74_37	in_frame_ins	33.33	12	6	INS	1.000:1.000	GGC	GGC	6523689	-	GGC	6523688	7	5	179	1	0	1	1	0	0	0	0	0	8147	1464	51	0	832	0	KDELR2	7	6523688	Start_Codon_Ins	INS	-	TCGA-XP-A8T7-01A-11D-A36J-09	3958628	6523688	152614975	87	44522											
HOXA9	3205	genome.wustl.edu	37	chr7	27203308	27203308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgacctgcctctcggtgaGgttgagcagtcgagccacct	6	10	12	13	2	1	3	0	3	1	0	3	4	1	3	4	2	3	2	4	2	0	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:27203308G>T	ENST00000343483.6	-	2	805	c.733C>A	c.(733-735)Ctc>Atc	p.L245I	RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.L85I	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	245					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						CTCTCGGTGAGGTTGAGCAGT	0.502			T	"NUP98, MSI2"	AML*																																			Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0													145	141	142					7																	27203308		2203	4300	6503	SO:0001583	missense	0				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.733C>A	7.37:g.27203308G>T	ENSP00000343619:p.Leu245Ile		O43369|O43429|Q99820	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.L245I	ENST00000343483.6	37	c.733	CCDS5409.1	7	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883927	0.72410	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.98012	-4.66;-4.66	5.21	3.39	0.38822	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.46758	D	0.000266	D	0.98639	0.9544	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99044	1.0825	10	0.87932	D	0	.	9.9343	0.41541	0.2244:0.0:0.7756:0.0	.	245	P31269	HXA9_HUMAN	I	245;169;236;85	ENSP00000343619:L245I;ENSP00000421799:L85I	ENSP00000242050:L236I	L	-	1	0	RP1-170O19.20;HOXA9	27169833	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.710000	0.47169	1.356000	0.45884	0.561000	0.74099	CTC	HOXA9	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000078399		0.502	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA9	HGNC	protein_coding	OTTHUMT00000358706.2		0	73	0	G			27203308	-1			no_errors	ENST00000343483	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	27203308	G	T	27203308	3	4	179	1	0	0	0	0	1	0	0	0	7325	1000	35	3	89	3	HOXA9	7	27203308	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	20679620	27203308	131935355	88	44523											
PKD1L1	168507	genome.wustl.edu	37	chr7	47872850	47872850	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaatggctgatgcaggttGctagaatgacaaggtcatgc	12	9	14	6	0	1	4	1	2	0	2	1	5	1	4	0	3	3	4	0	3	4	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:47872850G>T	ENST00000289672.2	-	41	6225	c.6175C>A	c.(6175-6177)Caa>Aaa	p.Q2059K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2059					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						GATGCAGGTTGCTAGAATGAC	0.557																																																	0													45	35	38					7																	47872850		2203	4300	6503	SO:0001630	splice_region_variant	0			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.6175-1C>A	7.37:g.47872850G>T			Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.Q2059K	ENST00000289672.2	37	c.6175	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	G	0.702	-0.790606	0.02884	.	.	ENSG00000158683	ENST00000289672	T	0.18174	2.23	3.58	0.156	0.14910	.	4.852140	0.01226	N	0.008221	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22347	-1.0219	10	0.05959	T	0.93	1.2771	3.3442	0.07129	0.1504:0.0:0.4229:0.4267	.	2059	Q8TDX9	PK1L1_HUMAN	K	2059	ENSP00000289672:Q2059K	ENSP00000289672:Q2059K	Q	-	1	0	PKD1L1	47839375	0.018000	0.18449	0.003000	0.11579	0.426000	0.31534	0.016000	0.13377	0.016000	0.14998	0.563000	0.77884	CAA	PKD1L1	-	NULL	ENSG00000158683		0.557	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1		0	28	0	G	NM_138295	Missense_Mutation	47872850	-1			no_errors	ENST00000289672	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.003	T	T	47872850	G	T	47872850	5	4	179	1	0	0	0	0	0	0	1	0	12003	1333	46	3	2442	3	PKD1L1	7	47872850	Splice_Site	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	20669542	47872850	111265813	89	44524											
ASL	435	genome.wustl.edu	37	chr7	65552723	65552723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacccccccagaactcaaCtttggggccatcactctcaa	10	7	5	19	0	3	1	3	0	1	1	4	1	3	1	5	2	2	0	5	2	3	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:65552723C>A	ENST00000304874.9	+	10	765	c.663C>A	c.(661-663)aaC>aaA	p.N221K	ASL_ENST00000380839.4_Missense_Mutation_p.N195K|ASL_ENST00000395331.3_Missense_Mutation_p.N221K|AC068533.7_ENST00000450043.1_5'Flank|ASL_ENST00000395332.3_Missense_Mutation_p.N221K	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	221					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAGAACTCAACTTTGGGGCCA	0.622																																																	0													80	69	73					7																	65552723		2203	4300	6503	SO:0001583	missense	0				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.663C>A	7.37:g.65552723C>A	ENSP00000307188:p.Asn221Lys		E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase	p.N221K	ENST00000304874.9	37	c.663	CCDS5531.1	7	.	.	.	.	.	.	.	.	.	.	c	12.14	1.848659	0.32699	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D;D	0.99121	-5.45;-5.45;-5.45;-5.45;-5.45	5.71	-0.893	0.10567	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.757148	0.13147	N	0.410184	D	0.93841	0.8030	N	0.05554	-0.025	0.33307	D	0.565556	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.003;0.002;0.002	D	0.88221	0.2897	10	0.66056	D	0.02	.	1.6608	0.02792	0.2363:0.4389:0.1149:0.2099	.	195;221;221	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	K	221;195;221;156;221	ENSP00000307188:N221K;ENSP00000370219:N195K;ENSP00000378741:N221K;ENSP00000354710:N156K;ENSP00000378740:N221K	ENSP00000307188:N221K	N	+	3	2	ASL	65190158	0.684000	0.27642	0.946000	0.38457	0.609000	0.37215	-0.329000	0.07935	-0.199000	0.10317	0.561000	0.74099	AAC	ASL	-	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase	ENSG00000126522		0.622	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2		0	38	0	C	NM_000048		65552723	1			no_errors	ENST00000304874	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.710	A	A	65552723	C	A	65552723	3	1	179	1	0	0	0	0	1	0	0	0	1045	564	20	3	697	3	ASL	7	65552723	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	17679873	65552723	93585940	90	44525											
SRRM3	222183	genome.wustl.edu	37	chr7	75889238	75889238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagtgtggcggagacccCgcggctgaccgagggcgctg	5	4	19	13	6	0	2	0	1	0	1	0	4	0	2	3	5	0	3	3	5	0	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:75889238C>A	ENST00000326382.8	+	4	557	c.350C>A	c.(349-351)cCg>cAg	p.P117Q	SRRM3_ENST00000388802.4_Missense_Mutation_p.P117Q	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	117										NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GCGGAGACCCCGCGGCTGACC	0.697																																																	0													24	28	27					7																	75889238		1529	3535	5064	SO:0001583	missense	0			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.350C>A	7.37:g.75889238C>A	ENSP00000325298:p.Pro117Gln		A6ND75	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.P117Q	ENST00000326382.8	37	c.350		7	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048789	0.36181	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	.	.	.	3.52	2.4	0.29515	.	0.185852	0.26176	N	0.025885	T	0.43500	0.1250	L	0.47716	1.5	0.32826	D	0.503445	D	0.59357	0.985	P	0.48901	0.594	T	0.57347	-0.7827	9	0.56958	D	0.05	-18.2804	7.3118	0.26479	0.4063:0.5937:0.0:0.0	.	117	A6NNA2	SRRM3_HUMAN	Q	117	.	ENSP00000325298:P117Q	P	+	2	0	SRRM3	75727174	0.834000	0.29399	0.963000	0.40424	0.574000	0.36063	1.299000	0.33424	1.693000	0.51124	0.555000	0.69702	CCG	SRRM3	-	NULL	ENSG00000177679		0.697	SRRM3-001	KNOWN	basic	protein_coding	SRRM3	HGNC	protein_coding	OTTHUMT00000252889.2	-	0	101	0	C	NM_001110199		75889238	1	tier1	-	no_errors	ENST00000388802	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.837	A	A	75889238	C	A	75889238	3	1	179	1	0	0	0	0	1	0	0	0	15217	652	23	2	360	2	SRRM3	7	75889238	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	10336515	75889238	83249425	91	44526											
ZNF804B	219578	genome.wustl.edu	37	chr7	88964137	88964137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccattggcaaggctgcaGaaaggcagttctaaatgata	13	8	12	8	0	1	2	0	1	1	1	1	2	1	2	1	4	1	5	1	4	5	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:88964137G>T	ENST00000333190.4	+	4	2450	c.1841G>T	c.(1840-1842)aGa>aTa	p.R614I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	614							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAGGCTGCAGAAAGGCAGTT	0.398										HNSCC(36;0.09)																																							0													67	70	69					7																	88964137		2202	4300	6502	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1841G>T	7.37:g.88964137G>T	ENSP00000329638:p.Arg614Ile		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.R614I	ENST00000333190.4	37	c.1841	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	5.497	0.276643	0.10403	.	.	ENSG00000182348	ENST00000333190	T	0.05258	3.47	5.49	-5.65	0.02459	.	1.350010	0.04803	N	0.433763	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	P	0.35363	0.497	B	0.28232	0.087	T	0.41215	-0.9521	10	0.56958	D	0.05	5.0676	8.7158	0.34410	0.6065:0.0963:0.2972:0.0	.	614	A4D1E1	Z804B_HUMAN	I	614	ENSP00000329638:R614I	ENSP00000329638:R614I	R	+	2	0	ZNF804B	88802073	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.026000	0.13599	-1.234000	0.02548	-0.345000	0.07892	AGA	ZNF804B	-	NULL	ENSG00000182348		0.398	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	66	0	G	NM_181646		88964137	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	52.38	20	22	SNP	0.000	T	T	88964137	G	T	88964137	3	4	179	1	0	0	0	0	1	0	0	0	18219	942	33	3	1855	3	ZNF804B	7	88964137	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	13074899	88964137	70174526	92	44527											
MUC17	140453	genome.wustl.edu	37	chr7	100682876	100682876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacacctgtcaccacttctGctgaagccagttcttctcct	7	12	6	16	0	4	1	1	1	3	0	5	1	4	1	4	0	2	3	4	0	1	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:100682876G>T	ENST00000306151.4	+	3	8243	c.8179G>T	c.(8179-8181)Gct>Tct	p.A2727S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2727	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)					CACCACTTCTGCTGAAGCCAG	0.463																																																	0													250	253	252					7																	100682876		2203	4300	6503	SO:0001583	missense	0			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.8179G>T	7.37:g.100682876G>T	ENSP00000302716:p.Ala2727Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.A2727S	ENST00000306151.4	37	c.8179	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	3.195	-0.164998	0.06502	.	.	ENSG00000169876	ENST00000306151	T	0.01998	4.51	1.21	-2.42	0.06542	.	.	.	.	.	T	0.01092	0.0036	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47761	-0.9092	9	0.10111	T	0.7	.	2.5247	0.04689	0.2649:0.0:0.329:0.4061	.	2727	Q685J3	MUC17_HUMAN	S	2727	ENSP00000302716:A2727S	ENSP00000302716:A2727S	A	+	1	0	MUC17	100469596	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.971000	0.03806	-1.404000	0.02050	-1.616000	0.00795	GCT	MUC17	-	NULL	ENSG00000169876		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	98	0	G	NM_001040105		100682876	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	5.68	82	5	SNP	0.000	T	T	100682876	G	T	100682876	3	4	179	1	0	0	0	0	1	0	0	0	10012	1319	46	3	8189	3	MUC17	7	100682876	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	11718739	100682876	58455787	93	44528											
LHFPL3	375612	genome.wustl.edu	37	chr7	103969248	103969248	+	Silent	SNP	T	T	C	0	1	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	atgcccggagccgccgccgcTgccgccgccgccgccgccgc	2	2	14	23	10	0	0	0	0	0	0	0	1	0	1	10	1	3	1	10	1	0	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:103969248T>C	ENST00000535008.1	+	1	145	c.21T>C	c.(19-21)gcT>gcC	p.A7A	LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A7A			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	7						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						ccgccgccgctgccgccgccg	0.721																																																	0													10	14	13					7																	103969248		1941	4076	6017	SO:0001819	synonymous_variant	0			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.21T>C	7.37:g.103969248T>C			A1L383|A4D0Q5	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.A7	ENST00000535008.1	37	c.21		7																																																																																			LHFPL3	-	NULL	ENSG00000187416		0.721	LHFPL3-201	KNOWN	basic	protein_coding	LHFPL3	HGNC	protein_coding			0	23	0	T	NM_199000		103969248	1			no_errors	ENST00000535008	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.988	C	C	103969248	T	C	103969248	2	2	179	1	0	0	0	0	0	0	0	1	8795	1567	55	4		4	LHFPL3	7	103969248	Silent	SNP	T	TCGA-XP-A8T7-01A-11D-A36J-09	3286372	103969248	55169415	94	44529											
BCAP29	55973	genome.wustl.edu	37	chr7	107240936	107240936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgaaaactgaattaaGgaagacttcagatggtaact	18	9	9	5	0	1	4	1	2	0	2	1	6	1	5	0	2	3	1	0	2	7	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:107240936G>T	ENST00000005259.4	+	6	914	c.575G>T	c.(574-576)aGg>aTg	p.R192M	BCAP29_ENST00000379117.2_Missense_Mutation_p.R192M|BCAP29_ENST00000465919.1_Missense_Mutation_p.R98M|BCAP29_ENST00000494086.1_3'UTR|snoU109_ENST00000459477.1_RNA|BCAP29_ENST00000445771.2_Missense_Mutation_p.R192M|BCAP29_ENST00000379119.2_Missense_Mutation_p.R192M|BCAP29_ENST00000379121.2_Missense_Mutation_p.R98M	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	192					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						ACTGAATTAAGGAAGACTTCA	0.313																																																	0													66	68	67					7																	107240936		2203	4298	6501	SO:0001583	missense	0				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.575G>T	7.37:g.107240936G>T	ENSP00000005259:p.Arg192Met		G5E9L4|O95003	Missense_Mutation	SNP	pfam_Bap31	p.R192M	ENST00000005259.4	37	c.575	CCDS34731.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.562|7.562	0.664887|0.664887	0.14710|0.14710	.|.	.|.	ENSG00000075790|ENSG00000075790	ENST00000436699|ENST00000005259;ENST00000465919;ENST00000445771;ENST00000479917;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150;ENST00000379121	.|T	.|0.42900	.|0.96	5.46|5.46	1.66|1.66	0.24008|0.24008	.|.	.|0.273242	.|0.45867	.|D	.|0.000339	T|T	0.18841|0.18841	0.0452|0.0452	N|N	0.04959|0.04959	-0.14|-0.14	0.30275|0.30275	N|N	0.79187|0.79187	.|B;B;B	.|0.19935	.|0.04;0.006;0.015	.|B;B;B	.|0.21360	.|0.034;0.008;0.008	T|T	0.08472|0.08472	-1.0720|-1.0720	5|10	.|0.59425	.|D	.|0.04	-32.9407|-32.9407	4.9517|4.9517	0.14017|0.14017	0.7069:0.0:0.1576:0.1356|0.7069:0.0:0.1576:0.1356	.|.	.|192;192;192	.|G5E9L4;C9JTE9;Q9UHQ4	.|.;.;BAP29_HUMAN	N|M	105|192;98;192;192;192;192;192;149;98	.|ENSP00000368416:R98M	.|ENSP00000005259:R192M	K|R	+|+	3|2	2|0	BCAP29|BCAP29	107028172|107028172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.124000|0.124000	0.20399|0.20399	2.164000|2.164000	0.42387|0.42387	0.383000|0.383000	0.24910|0.24910	-0.302000|-0.302000	0.09304|0.09304	AAG|AGG	BCAP29	-	pfam_Bap31	ENSG00000075790		0.313	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BCAP29	HGNC	protein_coding	OTTHUMT00000337011.2		0	27	0	G	NM_018844		107240936	1			no_errors	ENST00000379119	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	107240936	G	T	107240936	3	4	179	1	0	0	0	0	1	0	0	0	1347	1000	35	3	593	3	BCAP29	7	107240936	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	3271688	107240936	51897727	95	44530											
HIPK2	28996	genome.wustl.edu	37	chr7	139281575	139281575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aattgtctgccgctgccgttCccgggtggtgctggaggcca	4	10	15	12	3	1	0	0	0	1	0	2	1	2	1	4	4	3	3	4	4	1	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:139281575C>T	ENST00000406875.3	-	12	2699	c.2605G>A	c.(2605-2607)Gaa>Aaa	p.E869K	HIPK2_ENST00000342645.6_Intron|HIPK2_ENST00000428878.2_Missense_Mutation_p.E842K	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	869	Interaction with CTBP1. {ECO:0000250}.|Interaction with HMGA1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with TP53 and TP73.				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)					CGCTGCCGTTCCCGGGTGGTG	0.642																																																	0													63	72	69					7																	139281575		2193	4291	6484	SO:0001583	missense	0			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.2605G>A	7.37:g.139281575C>T	ENSP00000385571:p.Glu869Lys		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E869K	ENST00000406875.3	37	c.2605		7	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043059	0.36085	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.22945	1.93;1.93	5.26	5.26	0.73747	.	.	.	.	.	T	0.12263	0.0298	.	.	.	0.46521	D	0.999083	B;B	0.30741	0.293;0.122	B;B	0.25291	0.039;0.059	T	0.09378	-1.0677	8	0.07325	T	0.83	.	12.3849	0.55327	0.0:0.9239:0.0:0.0761	.	869;842	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	K	869;842	ENSP00000385571:E869K;ENSP00000413724:E842K	ENSP00000385571:E869K	E	-	1	0	HIPK2	138932115	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.243000	0.65395	2.746000	0.94184	0.655000	0.94253	GAA	HIPK2	-	NULL	ENSG00000064393		0.642	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3		0	26	0	C	NM_022740		139281575	-1			no_errors	ENST00000406875	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	139281575	C	T	139281575	3	4	179	1	0	0	0	0	1	0	0	0	7144	864	30	3	1007	3	HIPK2	7	139281575	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	32040639	139281575	19857088	96	44531											
DENND2A	27147	genome.wustl.edu	37	chr7	140244498	140244498	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accaggtggcggacgctgagGgaggagaagagagactcaaa	14	3	17	7	2	1	4	1	1	0	3	1	8	1	6	1	5	0	1	1	5	2	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:140244498G>T	ENST00000275884.6	-	13	2664	c.2247C>A	c.(2245-2247)tcC>tcA	p.S749S	DENND2A_ENST00000537639.1_Silent_p.S749S|DENND2A_ENST00000496613.1_Silent_p.S749S|DENND2A_ENST00000492720.1_Silent_p.S749S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	749	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGACGCTGAGGGAGGAGAAGA	0.602																																																	0													45	54	51					7																	140244498		2183	4284	6467	SO:0001819	synonymous_variant	0			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.2247C>A	7.37:g.140244498G>T			C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S749	ENST00000275884.6	37	c.2247	CCDS43659.1	7																																																																																			DENND2A	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000146966		0.602	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	-	0	66	0	G	NM_015689		140244498	-1	tier1	-	no_errors	ENST00000275884	ensembl	human	known	74_37	silent	6.41	73	5	SNP	0.437	T	T	140244498	G	T	140244498	2	4	179	1	0	0	0	0	0	0	0	1	4443	1219	43	3		3	DENND2A	7	140244498	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	962923	140244498	18894165	97	44532											
PDIA4	9601	genome.wustl.edu	37	chr7	148701272	148701272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgttgttcttgggcactgGctgggatttgatgactggct	4	16	14	7	0	1	2	0	2	1	0	1	3	1	3	0	4	0	5	0	4	0	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:148701272G>A	ENST00000286091.4	-	10	1784	c.1552C>T	c.(1552-1554)Cca>Tca	p.P518S		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	518	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TTGGGCACTGGCTGGGATTTG	0.552																																																	0													146	137	140					7																	148701272		2203	4300	6503	SO:0001583	missense	0			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.1552C>T	7.37:g.148701272G>A	ENSP00000286091:p.Pro518Ser		A8K4K6|Q549T6	Missense_Mutation	SNP	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.P518S	ENST00000286091.4	37	c.1552	CCDS5893.1	7	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739873	0.89573	.	.	ENSG00000155660	ENST00000286091	T	0.21734	1.99	5.8	4.91	0.64330	Thioredoxin-like fold (3);	0.049980	0.85682	D	0.000000	T	0.46908	0.1417	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.51004	-0.8760	10	0.72032	D	0.01	.	16.2982	0.82786	0.0:0.0:0.8666:0.1334	.	518	P13667	PDIA4_HUMAN	S	518	ENSP00000286091:P518S	ENSP00000286091:P518S	P	-	1	0	PDIA4	148332205	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.691000	0.84191	1.437000	0.47472	0.650000	0.86243	CCA	PDIA4	-	pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000155660		0.552	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	HGNC	protein_coding	OTTHUMT00000317077.1	-	0	46	0	G	NM_004911		148701272	-1	tier1	-	no_errors	ENST00000286091	ensembl	human	known	74_37	missense	6.67	70	5	SNP	1.000	A	A	148701272	G	A	148701272	3	1	179	1	0	0	0	0	1	0	0	0	11709	1203	42	3	389	3	PDIA4	7	148701272	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	8456774	148701272	10437391	98	44533											
MLL3	58508	genome.wustl.edu	37	chr7	151878416	151878416	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcttggggtttggggctGctgactatatgggtcaacag	6	13	16	6	0	2	1	1	1	1	0	2	1	2	1	0	6	2	3	0	6	3	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr7:151878416G>A	ENST00000262189.6	-	36	6747	c.6529C>T	c.(6529-6531)Cag>Tag	p.Q2177*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2177*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2177	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)										GTTTGGGGCTGCTGACTATAT	0.473																																																	0													124	124	124					7																	151878416		2203	4300	6503	SO:0001587	stop_gained	0			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.6529C>T	7.37:g.151878416G>A	ENSP00000262189:p.Gln2177*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2177*	ENST00000262189.6	37	c.6529	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	48	14.459273	0.99796	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.51	5.51	0.81932	.	0.000000	0.43919	D	0.000501	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	.	.	.	X	2177	.	ENSP00000262189:Q2177X	Q	-	1	0	MLL3	151509349	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.175000	0.71949	2.600000	0.87896	0.655000	0.94253	CAG	KMT2C	-	NULL	ENSG00000055609		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	32	0	G			151878416	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	A	A	151878416	G	A	151878416	4	1	179	1	0	0	0	0	0	1	0	0	9660	1328	46	3	8302	3	MLL3	7	151878416	Nonsense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	3177144	151878416	7260247	99	44534											
ARHGEF10	9639	genome.wustl.edu	37	chr8	1893811	1893811	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgccacccctgttcacaaCatgctgccaggtaaggggac	10	7	10	14	1	1	0	1	0	0	0	2	1	1	1	4	3	3	3	4	3	2	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:1893811C>T	ENST00000398564.1	+	27	3462	c.3462C>T	c.(3460-3462)aaC>aaT	p.N1154N	ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Silent_p.N1129N|ARHGEF10_ENST00000262112.6_Silent_p.N1125N|ARHGEF10_ENST00000520359.1_Silent_p.N1091N|ARHGEF10_ENST00000518288.1_Silent_p.N1153N			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1154					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CTGTTCACAACATGCTGCCAG	0.627																																																	0													104	88	94					8																	1893811		2203	4300	6503	SO:0001819	synonymous_variant	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3462C>T	8.37:g.1893811C>T			O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.N1154	ENST00000398564.1	37	c.3462		8																																																																																			ARHGEF10	-	superfamily_WD40_repeat_dom	ENSG00000104728		0.627	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding			0	23	0	C			1893811	1			no_errors	ENST00000398564	ensembl	human	known	74_37	silent	29.41	12	5	SNP	0.984	T	T	1893811	C	T	1893811	2	4	179	1	0	0	0	0	0	0	0	1	894	477	17	3		3	ARHGEF10	8	1893811	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09		1893811	144470211	100	44535											
DOCK5	80005	genome.wustl.edu	37	chr8	25189844	25189844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaagaagttaatggaagtgGatggaggagagattgttaag	16	10	15	0	0	0	2	0	0	0	2	0	7	0	6	0	4	0	2	0	4	6	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:25189844G>T	ENST00000276440.7	+	19	2025	c.1981G>T	c.(1981-1983)Gat>Tat	p.D661Y		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	661					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)		AATGGAAGTGGATGGAGGAGA	0.338																																					Pancreas(145;34 1887 3271 10937 30165)												0													116	108	111					8																	25189844		2203	4300	6503	SO:0001583	missense	0				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.1981G>T	8.37:g.25189844G>T	ENSP00000276440:p.Asp661Tyr		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.D661Y	ENST00000276440.7	37	c.1981	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.698695|4.698695	0.88830|0.88830	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.20881|.	2.04|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Armadillo-type fold (1);|.	0.190501|.	0.46442|.	D|.	0.000284|.	D|D	0.85217|0.85217	0.5646|0.5646	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	D;D;D|.	0.60160|.	0.987;0.984;0.987|.	P;P;P|.	0.61940|.	0.896;0.832;0.896|.	D|D	0.86301|0.86301	0.1680|0.1680	10|5	0.87932|.	D|.	0|.	.|.	20.0989|20.0989	0.97860|0.97860	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	651;436;661|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	Y|V	661|432	ENSP00000276440:D661Y|.	ENSP00000276440:D661Y|.	D|G	+|+	1|2	0|0	DOCK5|DOCK5	25245761|25245761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.106000|9.106000	0.94253|0.94253	2.764000|2.764000	0.94973|0.94973	0.650000|0.650000	0.86243|0.86243	GAT|GGA	DOCK5	-	superfamily_ARM-type_fold	ENSG00000147459		0.338	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	-	0	71	0	G	NM_024940		25189844	1	tier1	-	no_errors	ENST00000276440	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	25189844	G	T	25189844	3	4	179	1	0	0	0	0	1	0	0	0	4704	1174	41	3	2055	3	DOCK5	8	25189844	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	23296033	25189844	121174178	101	44536											
TEX15	56154	genome.wustl.edu	37	chr8	30704417	30704417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccttatatgaggtcacaAattcttcacaaagcatgttt	13	13	7	8	0	3	1	2	1	1	0	3	2	3	1	1	1	2	2	1	1	4	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:30704417A>G	ENST00000256246.2	-	1	2191	c.2117T>C	c.(2116-2118)tTt>tCt	p.F706S	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	706					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.F706C(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAGGTCACAAATTCTTCACA	0.378																																																	1	Substitution - Missense(1)	endometrium(1)											95	86	89					8																	30704417		2203	4299	6502	SO:0001583	missense	0			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.2117T>C	8.37:g.30704417A>G	ENSP00000256246:p.Phe706Ser			Missense_Mutation	SNP	NULL	p.F706S	ENST00000256246.2	37	c.2117	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714649	0.48622	.	.	ENSG00000133863	ENST00000256246	T	0.11495	2.77	5.56	-1.41	0.08941	.	1.447730	0.04184	N	0.327078	T	0.08088	0.0202	L	0.32530	0.975	0.09310	N	1	B	0.20780	0.048	B	0.18561	0.022	T	0.39583	-0.9607	10	0.87932	D	0	.	0.5803	0.00711	0.4399:0.1388:0.1538:0.2674	.	706	Q9BXT5	TEX15_HUMAN	S	706	ENSP00000256246:F706S	ENSP00000256246:F706S	F	-	2	0	TEX15	30823959	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.014000	0.29950	-0.486000	0.06744	-1.227000	0.01581	TTT	TEX15	-	NULL	ENSG00000133863		0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1		0	26	0	A			30704417	-1			no_errors	ENST00000256246	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	G	G	30704417	A	G	30704417	3	3	179	1	0	0	0	0	1	0	0	0	15826	14	1	4	6268	4	TEX15	8	30704417	Missense_Mutation	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09	5514573	30704417	115659605	102	44537											
SDCBP	6386	genome.wustl.edu	37	chr8	59493135	59493135	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gtagttactattacaatcatGcctgcttttatctttgaaca	11	17	5	8	0	2	1	1	1	1	0	2	1	2	1	1	0	5	3	1	0	7	7			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:59493135G>T	ENST00000260130.4	+	8	960	c.810G>T	c.(808-810)atG>atT	p.M270I	SDCBP_ENST00000523483.1_Missense_Mutation_p.M290I|SDCBP_ENST00000447182.2_Missense_Mutation_p.M269I|SDCBP_ENST00000413219.2_Missense_Mutation_p.M270I|SDCBP_ENST00000447267.2_Missense_Mutation_p.M216I|SDCBP_ENST00000424270.2_Missense_Mutation_p.M264I|SDCBP_ENST00000422546.2_Missense_Mutation_p.M269I|SDCBP_ENST00000520168.1_Missense_Mutation_p.M211I	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	270	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTACAATCATGCCTGCTTTTA	0.313																																																	0													95	88	90					8																	59493135		2203	4296	6499	SO:0001583	missense	0			AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.810G>T	8.37:g.59493135G>T	ENSP00000260130:p.Met270Ile		B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M270I	ENST00000260130.4	37	c.810	CCDS6172.1	8	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048960	0.36181	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	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	5.53	5.53	0.82687	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	N	0.20845	0.615	0.80722	D	1	B;B;B;B	0.32324	0.004;0.364;0.043;0.026	B;B;B;B	0.38378	0.012;0.272;0.091;0.111	T	0.04229	-1.0967	9	.	.	.	-26.504	19.8372	0.96661	0.0:0.0:1.0:0.0	.	211;290;264;270	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	I	270;269;269;270;264;290;211;216	ENSP00000260130:M270I;ENSP00000391687:M269I;ENSP00000409288:M269I;ENSP00000411771:M270I;ENSP00000395351:M264I;ENSP00000428184:M290I;ENSP00000430730:M211I;ENSP00000397820:M216I	.	M	+	3	0	SDCBP	59655689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.795000	0.85887	2.770000	0.95276	0.655000	0.94253	ATG	SDCBP	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000137575		0.313	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCBP	HGNC	protein_coding	OTTHUMT00000378193.1		0	41	0	G	NM_005625		59493135	1			no_errors	ENST00000260130	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	59493135	G	T	59493135	3	4	179	1	0	0	0	0	1	0	0	0	14000	1319	46	3	836	3	SDCBP	8	59493135	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	28788718	59493135	86870887	103	44538											
TMEM55A	55529	genome.wustl.edu	37	chr8	92032388	92032388	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatctttatctcttaccagTtgggtcttgggcatcctatt	7	18	7	9	0	3	0	0	0	3	0	5	0	4	0	2	2	1	2	2	2	4	8			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:92032388T>A	ENST00000285419.3	-	3	673	c.359A>T	c.(358-360)aAc>aTc	p.N120I	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	120						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CTCTTACCAGTTGGGTCTTGG	0.378																																																	0													119	118	118					8																	92032388		2203	4300	6503	SO:0001583	missense	0			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.359A>T	8.37:g.92032388T>A	ENSP00000285419:p.Asn120Ile		B2R9H4|Q68CU2	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.N120I	ENST00000285419.3	37	c.359	CCDS6252.1	8	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429529	0.83776	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	6.06	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.69387	0.3105	L	0.46157	1.445	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.70417	-0.4877	9	0.56958	D	0.05	.	13.6607	0.62366	0.0:0.0:0.1289:0.8711	.	120	Q8N4L2	TM55A_HUMAN	I	120;126	.	ENSP00000285419:N120I	N	-	2	0	TMEM55A	92101564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.983000	0.70540	1.102000	0.41551	0.533000	0.62120	AAC	TMEM55A	-	pfam_Transmembrane_protein_55A/B	ENSG00000155099		0.378	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM55A	HGNC	protein_coding	OTTHUMT00000376778.1	-	0	61	0	T	NM_018710		92032388	-1	tier1	-	no_errors	ENST00000285419	ensembl	human	known	74_37	missense	32.84	45	22	SNP	1.000	A	A	92032388	T	A	92032388	3	1	179	1	0	0	0	0	1	0	0	0	16228	1725	60	5	434	5	TMEM55A	8	92032388	Missense_Mutation	SNP	T	TCGA-XP-A8T7-01A-11D-A36J-09	32539253	92032388	54331634	104	44539											
DERL1	79139	genome.wustl.edu	37	chr8	124035007	124035007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtactgacatgatcagagGaatcatcagcaactgcaaaa	18	7	8	8	0	3	3	3	2	0	1	3	4	3	4	0	1	4	3	0	1	6	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:124035007G>T	ENST00000259512.4	-	5	670	c.370C>A	c.(370-372)Cct>Act	p.P124T	DERL1_ENST00000519018.1_Missense_Mutation_p.P24T|DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Missense_Mutation_p.P124T|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000523036.1_Missense_Mutation_p.P24T	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	124					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ATGATCAGAGGAATCATCAGC	0.418											OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													164	144	151					8																	124035007		2203	4300	6503	SO:0001583	missense	0			BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.370C>A	8.37:g.124035007G>T	ENSP00000259512:p.Pro124Thr	1531	B3KW41|E9PH19	Missense_Mutation	SNP	pfam_DER1	p.P124T	ENST00000259512.4	37	c.370	CCDS6337.1	8	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488557	0.64074	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000519018;ENST00000523036	T;T;T;T	0.28895	2.81;1.59;2.81;2.81	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	M	0.62016	1.91	0.80722	D	1	B;B	0.26577	0.01;0.153	B;B	0.37731	0.015;0.257	T	0.34925	-0.9809	10	0.62326	D	0.03	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	124;124	Q9BUN8-2;Q9BUN8	.;DERL1_HUMAN	T	124;124;24;24	ENSP00000259512:P124T;ENSP00000384289:P124T;ENSP00000430086:P24T;ENSP00000429199:P24T	ENSP00000259512:P124T	P	-	1	0	DERL1	124104188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.744000	0.94065	0.650000	0.86243	CCT	DERL1	-	pfam_DER1	ENSG00000136986		0.418	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL1	HGNC	protein_coding	OTTHUMT00000381714.2	-	0	58	0	G	NM_024295		124035007	-1	tier1	-	no_errors	ENST00000259512	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	124035007	G	T	124035007	3	4	179	1	0	0	0	0	1	0	0	0	4460	1174	41	3	401	3	DERL1	8	124035007	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	32002619	124035007	22329015	105	44540											
FAM135B	51059	genome.wustl.edu	37	chr8	139380205	139380205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagctctaccgaaaactcaaCcgttccttgtatttcagaca	12	12	5	12	2	3	1	2	0	1	1	4	2	4	1	3	0	4	3	3	0	6	6			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:139380205C>T	ENST00000395297.1	-	2	192	c.22G>A	c.(22-24)Gtt>Att	p.V8I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	8										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)			GAAAACTCAACCGTTCCTTGT	0.378										HNSCC(54;0.14)																																							0													160	152	155					8																	139380205		1870	4100	5970	SO:0001583	missense	0			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.22G>A	8.37:g.139380205C>T	ENSP00000378710:p.Val8Ile		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.V8I	ENST00000395297.1	37	c.22	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350863	0.61183	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.14893	2.47	5.54	5.54	0.83059	.	0.145058	0.29119	U	0.013085	T	0.11110	0.0271	N	0.21097	0.63	0.35250	D	0.778605	P	0.48503	0.911	B	0.39840	0.311	T	0.20107	-1.0285	10	0.21540	T	0.41	-9.2926	11.8335	0.52309	0.0:0.919:0.0:0.081	.	8	Q49AJ0	F135B_HUMAN	I	8	ENSP00000378710:V8I	ENSP00000160713:V8I	V	-	1	0	FAM135B	139449387	0.994000	0.37717	0.993000	0.49108	0.994000	0.84299	2.902000	0.48703	2.768000	0.95171	0.561000	0.74099	GTT	FAM135B	-	NULL	ENSG00000147724		0.378	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	36	0	C	NM_015912		139380205	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.995	T	T	139380205	C	T	139380205	3	4	179	1	0	0	0	0	1	0	0	0	5468	507	18	3	4274	3	FAM135B	8	139380205	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	15345198	139380205	6983817	106	44541											
NFKBIL2	4796	genome.wustl.edu	37	chr8	145661587	145661589	+	In_Frame_Del	DEL	GCT	GCT	-																															gcgctgtcctcgccttctgaGctgctgctgctgctggctgg																										TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr8:145661587_145661589delGCT	ENST00000409379.3	-	17	2256_2258	c.2227_2229delAGC	c.(2227-2229)agcdel	p.S744del	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	744					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						CGCCTTCTGAGCTGCTGCTGCTG	0.719																																																	0										68,3998		2,64,1967						3	0.8			10	123,7811		4,115,3848	no	coding	TONSL	NM_013432.4		6,179,5815	A1A1,A1R,RR		1.5503,1.6724,1.5917				191,11809				SO:0001651	inframe_deletion	0				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.2227_2229delAGC	8.37:g.145661596_145661598delGCT	ENSP00000386239:p.Ser744del		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	In_Frame_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S744in_frame_del	ENST00000409379.3	37	c.2229_2227	CCDS34968.2	8																																																																																			TONSL	-	NULL	ENSG00000160949		0.719	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2		0	19	0	GCT	NM_013432		145661589	-1	tier1		no_errors	ENST00000409379	ensembl	human	known	74_37	in_frame_del	15.00	17	3	DEL	0.999:0.998:0.999	-	-	145661589	GCT	-	145661587	7	5	179	1	0	1	0	1	0	0	0	0	10421	962	34	0	1947	0	NFKBIL2	8	145661587	In_Frame_Del	DEL	GCT	TCGA-XP-A8T7-01A-11D-A36J-09	6281382	145661587	702435	107	44542											
CDKN2A	1029	genome.wustl.edu	37	chr9	21968242	21968242	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctttcaatcggggatgtCtgcagagggcagaaagaaaa	13	9	13	6	1	3	3	1	0	2	3	4	4	3	4	0	3	1	3	0	3	4	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:21968242C>T	ENST00000304494.5	-	3	728		c.e3-1		CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(6)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGGATGTCTGCAGAGGGC	0.542		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1322	Whole gene deletion(1316)|Unknown(6)	haematopoietic_and_lymphoid_tissue(277)|skin(166)|central_nervous_system(163)|lung(140)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(33)|breast(30)|kidney(29)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											94	95	95					9																	21968242		2203	4300	6503	SO:0001630	splice_region_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.458-1G>A	9.37:g.21968242C>T			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	-	e3-1	ENST00000304494.5	37	c.522-1	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195455	0.22037	.	.	ENSG00000147889	ENST00000304494	.	.	.	3.2	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.50467	D	0.99987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1502	0.42788	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21958242	0.325000	0.24660	0.095000	0.20976	0.001000	0.01503	0.291000	0.18994	2.126000	0.65437	0.650000	0.86243	.	CDKN2A	-	-	ENSG00000147889		0.542	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0	115	0	C	NM_000077	Intron	21968242	-1	tier1	-	no_errors	ENST00000361570	ensembl	human	known	74_37	splice_site	59.42	28	41	SNP	0.091	T	T	21968242	C	T	21968242	5	4	179	1	0	0	0	0	0	0	1	0	3168	927	32	3	17	3	CDKN2A	9	21968242	Splice_Site	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09		21968242	119245189	108	44543											
CREB3	57704	genome.wustl.edu	37	chr9	35736105	35736107	+	IGR	DEL	CAG	CAG	-																															attgagatatcaaacaaaacCagcagcagcagcacctgcat																								rs183600592	byFrequency	TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:35736105_35736107delCAG	ENST00000378103.3	-	0	3611				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_In_Frame_Del_p.S228del	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)			CAAACAAAACCAGCAGCAGCAGC	0.522											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001628	intergenic_variant	0			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.35736114_35736116delCAG		857	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	In_Frame_Del	DEL	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.S228in_frame_del	ENST00000378103.3	37	c.672_674	CCDS6589.1	9																																																																																			CREB3	-	NULL	ENSG00000107175		0.522	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CREB3	HGNC	protein_coding	OTTHUMT00000055456.1		0	58	0	CAG	NM_020944		35736107	1	tier1		no_errors	ENST00000353704	ensembl	human	known	74_37	in_frame_del	9.30	39	4	DEL	0.998:1.000:1.000	-	-	35736107	CAG	-	35736105	6	5	179	0	1	1	0	1	0	0	0	0	3862	581	21	0		0	CREB3	9	35736105	IGR	DEL	CAG	TCGA-XP-A8T7-01A-11D-A36J-09	13767863	35736105	105477326	109	44544											
C9orf79	286234	genome.wustl.edu	37	chr9	90502226	90502226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagggtcccagtcagctgatAcccatgggcgatcagaggcc	9	6	14	12	1	2	2	2	1	0	1	3	4	3	2	3	3	2	1	3	3	1	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:90502226A>G	ENST00000325643.5	+	4	2890	c.2824A>G	c.(2824-2826)Acc>Gcc	p.T942A		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	942					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTCAGCTGATACCCATGGGCG	0.642																																																	0													43	44	44					9																	90502226		2202	4297	6499	SO:0001583	missense	0			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.2824A>G	9.37:g.90502226A>G	ENSP00000322640:p.Thr942Ala		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.T942A	ENST00000325643.5	37	c.2824	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	a	0.021	-1.421147	0.01126	.	.	ENSG00000177992	ENST00000325643	T	0.03301	3.98	2.39	-2.08	0.07254	.	3.905770	0.00567	N	0.000298	T	0.02304	0.0071	N	0.19112	0.55	0.09310	N	1	P	0.42248	0.774	B	0.37888	0.26	T	0.38972	-0.9636	10	0.08599	T	0.76	.	3.0563	0.06186	0.4371:0.2302:0.3327:0.0	.	942	Q6ZUB1	CI079_HUMAN	A	942	ENSP00000322640:T942A	ENSP00000322640:T942A	T	+	1	0	C9orf79	89692046	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.369000	0.07533	-0.421000	0.07416	-0.429000	0.05907	ACC	SPATA31E1	-	NULL	ENSG00000177992		0.642	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	-	0	34	0	A	NM_178828		90502226	1	tier1	-	no_errors	ENST00000325643	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.000	G	G	90502226	A	G	90502226	3	3	179	1	0	0	0	0	1	0	0	0	2504	391	14	4	2838	4	C9orf79	9	90502226	Missense_Mutation	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09	54766121	90502226	50711205	110	44545											
SECISBP2	79048	genome.wustl.edu	37	chr9	91965627	91965627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggtccgtttccaagaccGtatgtaccagaaagatccag	12	9	9	11	2	0	3	0	0	0	3	3	3	3	3	5	1	1	3	5	1	4	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:91965627G>A	ENST00000375807.3	+	14	2044	c.1973G>A	c.(1972-1974)cGt>cAt	p.R658H	SECISBP2_ENST00000339901.4_Missense_Mutation_p.R585H|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R590H	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	658					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						TTCCAAGACCGTATGTACCAG	0.443																																																	0													227	196	207					9																	91965627		2203	4300	6503	SO:0001583	missense	0			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.1973G>A	9.37:g.91965627G>A	ENSP00000364965:p.Arg658His		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.R658H	ENST00000375807.3	37	c.1973	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.412988	0.96072	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.58358	0.34;0.34;0.34	4.84	4.84	0.62591	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.056458	0.64402	D	0.000001	T	0.75110	0.3805	M	0.85197	2.74	0.58432	D	0.999999	D;D;D	0.69078	0.978;0.996;0.997	P;P;D	0.65987	0.855;0.819;0.94	T	0.79869	-0.1621	10	0.87932	D	0	-13.9231	18.4955	0.90864	0.0:0.0:1.0:0.0	.	665;585;658	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	H	658;664;585;590	ENSP00000364965:R658H;ENSP00000364959:R585H;ENSP00000436650:R590H	ENSP00000364959:R585H	R	+	2	0	SECISBP2	91155447	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	9.255000	0.95524	2.686000	0.91538	0.561000	0.74099	CGT	SECISBP2	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	ENSG00000187742		0.443	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3	-	0	77	0	G	NM_024077		91965627	1	tier1	-	no_errors	ENST00000375807	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	91965627	G	A	91965627	3	1	179	1	0	0	0	0	1	0	0	0	14051	1145	40	1	2027	1	SECISBP2	9	91965627	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	1463401	91965627	49247804	111	44546											
PTPN3	5774	genome.wustl.edu	37	chr9	112207526	112207526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgtgacttacattgtaCggcataggacgctagaacca	11	11	9	10	2	0	2	0	1	0	1	0	3	0	3	2	2	3	3	2	2	5	6	rs138810032	byFrequency	TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:112207526C>T	ENST00000374541.2	-	7	564	c.460G>A	c.(460-462)Gta>Ata	p.V154I	PTPN3_ENST00000446349.1_Missense_Mutation_p.V23I|PTPN3_ENST00000412145.1_Missense_Mutation_p.V23I|PTPN3_ENST00000262539.3_Missense_Mutation_p.V45I	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	154	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						TTACATTGTACGGCATAGGAC	0.463													C|||	2	0.000399361	0	0	5008	,	,		20168	0		0	False		,,,				2504	0.002																0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	182	136	152		460,67,67,460	5.6	1	9	dbSNP_134	152	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense,missense	PTPN3	NM_001145368.1,NM_001145369.1,NM_001145370.1,NM_002829.3	29,29,29,29	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	154/869,23/783,23/738,154/914	112207526	6,13000	2203	4300	6503	SO:0001583	missense	0				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.460G>A	9.37:g.112207526C>T	ENSP00000363667:p.Val154Ile		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V154I	ENST00000374541.2	37	c.460	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.164963	0.94727	0.0	6.98E-4	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.58	5.58	0.84498	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	0.85305	0.5666	L	0.61036	1.89	0.80722	D	1	D;D;P	0.69078	0.997;0.989;0.933	P;P;P	0.59643	0.833;0.861;0.692	D	0.85958	0.1468	10	0.66056	D	0.02	.	18.716	0.91675	0.0:1.0:0.0:0.0	.	45;154;154	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	I	154;23;23;154;45	ENSP00000416654:V23I;ENSP00000395384:V23I;ENSP00000363667:V154I;ENSP00000262539:V45I	ENSP00000262539:V45I	V	-	1	0	PTPN3	111247347	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.024000	0.70857	2.782000	0.95742	0.655000	0.94253	GTA	PTPN3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain	ENSG00000070159		0.463	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	-	0	63	0	C			112207526	-1	tier1	rs138810032	no_errors	ENST00000374541	ensembl	human	known	74_37	missense	5.81	81	5	SNP	1.000	T	T	112207526	C	T	112207526	3	4	179	1	0	0	0	0	1	0	0	0	12834	536	19	1	2361	1	PTPN3	9	112207526	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	20241899	112207526	29005905	112	44547											
SEC16A	9919	genome.wustl.edu	37	chr9	139341801	139341801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcaggacgtcaacgtagCgagctctggttcctgctgca	7	10	13	11	3	3	0	2	0	1	0	4	2	4	1	1	3	5	6	1	3	2	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr9:139341801C>G	ENST00000371706.3	-	25	6074	c.6041G>C	c.(6040-6042)cGc>cCc	p.R2014P	SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000431893.2_Missense_Mutation_p.R2014P|SEC16A_ENST00000313050.7_Missense_Mutation_p.R2192P|SEC16A_ENST00000313084.5_Missense_Mutation_p.R198P|SEC16A_ENST00000290037.6_Missense_Mutation_p.R2014P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2014	Pro-rich.|Required for interaction with SEC23A.				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)		GTCAACGTAGCGAGCTCTGGT	0.617																																																	0													20	26	24					9																	139341801		2111	4201	6312	SO:0001583	missense	0			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.6041G>C	9.37:g.139341801C>G	ENSP00000360771:p.Arg2014Pro		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.R2192P	ENST00000371706.3	37	c.6575		9	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147428	0.57151	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000313084;ENST00000537660;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	T;T;T;T;T;T	0.52526	1.63;0.66;1.24;1.66;1.59;1.65	5.26	5.26	0.73747	.	0.056123	0.64402	D	0.000001	T	0.74921	0.3780	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.995;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.953;0.994;0.996;0.985;0.99;0.998;0.996;0.999	T	0.77877	-0.2424	10	0.44086	T	0.13	-25.1813	18.2057	0.89853	0.0:1.0:0.0:0.0	.	33;2192;2014;2014;1582;2014;550;198;33	B4DY06;F1T0I1;O15027-5;O15027-4;A4QN19;O15027;C9JVR0;Q8N9G1;F6VLX6	.;.;.;.;.;SC16A_HUMAN;.;.;.	P	2192;586;914;2014;198;33;2014;2014;1582;550	ENSP00000325827:R2192P;ENSP00000277537:R586P;ENSP00000403525:R914P;ENSP00000360771:R2014P;ENSP00000290037:R2014P;ENSP00000387583:R2014P	ENSP00000277537:R586P	R	-	2	0	SEC16A	138461622	1.000000	0.71417	0.993000	0.49108	0.176000	0.22953	5.261000	0.65496	2.618000	0.88619	0.455000	0.32223	CGC	SEC16A	-	NULL	ENSG00000148396		0.617	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	-	0	27	0	C	XM_088459		139341801	-1	tier1	-	no_errors	ENST00000313050	ensembl	human	known	74_37	missense	18.18	35	8	SNP	1.000	G	G	139341801	C	G	139341801	3	3	179	1	0	0	0	0	1	0	0	0	14031	768	27	5	522	5	SEC16A	9	139341801	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	27134275	139341801	1871630	113	44548											
DCLRE1C	64421	genome.wustl.edu	37	chr10	14961799	14961799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtttatactttggctccGtactttgggaagaccggcat	7	14	12	8	2	0	1	0	0	0	1	1	2	1	2	2	4	2	4	2	4	4	6	rs376153057		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:14961799G>T	ENST00000378278.2	-	13	1131	c.1094C>A	c.(1093-1095)aCg>aAg	p.T365K	DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T250K|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T365K|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T250K|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T18K|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T245K|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T245K|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T245K|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.T245K|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T250K|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T245K			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	365					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						CTTTGGCTCCGTACTTTGGGA	0.428								Non-homologous end-joining																																									0													131	126	128					10																	14961799		2203	4300	6503	SO:0001583	missense	0			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.1094C>A	10.37:g.14961799G>T	ENSP00000367527:p.Thr365Lys		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.T365K	ENST00000378278.2	37	c.1094	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	G	4.476	0.088136	0.08583	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.75477	-0.93;-0.38;-0.39;-0.39;-0.39;-0.38;-0.38;-0.38;-0.94;-0.38	5.07	-3.53	0.04667	.	0.886398	0.10268	N	0.695197	T	0.61726	0.2370	L	0.50333	1.59	0.09310	N	1	B;B;B	0.33413	0.05;0.107;0.411	B;B;B	0.30716	0.021;0.119;0.085	T	0.48139	-0.9061	10	0.30854	T	0.27	.	8.4161	0.32672	0.403:0.0:0.5037:0.0933	.	365;250;365	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	K	365;245;250;250;250;245;245;245;365;245;18	ENSP00000367538:T365K;ENSP00000400529:T245K;ENSP00000367492:T250K;ENSP00000350349:T250K;ENSP00000367496:T250K;ENSP00000380030:T245K;ENSP00000367503:T245K;ENSP00000367502:T245K;ENSP00000367527:T365K;ENSP00000367506:T245K	ENSP00000350349:T250K	T	-	2	0	DCLRE1C	15001805	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-0.716000	0.04991	-0.794000	0.04468	-1.314000	0.01303	ACG	DCLRE1C	-	NULL	ENSG00000152457		0.428	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	-	0	60	0	G	NM_022487		14961799	-1	tier1	-	no_errors	ENST00000378278	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	T	T	14961799	G	T	14961799	3	4	179	1	0	0	0	0	1	0	0	0	4305	1145	40	2	992	2	DCLRE1C	10	14961799	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09		14961799	120572948	114	44549											
ZNF438	220929	genome.wustl.edu	37	chr10	31139162	31139162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattcacctgatcagagcGtgatggtgaatgacatggca	12	9	12	8	1	2	6	2	4	0	2	2	6	2	6	1	2	1	1	1	2	1	1	rs199999473		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:31139162G>T	ENST00000361310.3	-	6	501	c.172C>A	c.(172-174)Cgc>Agc	p.R58S	ZNF438_ENST00000442986.1_Missense_Mutation_p.R58S|ZNF438_ENST00000444692.2_Missense_Mutation_p.R48S|ZNF438_ENST00000538351.2_Missense_Mutation_p.R9S|ZNF438_ENST00000331737.6_Missense_Mutation_p.R48S|ZNF438_ENST00000413025.1_Missense_Mutation_p.R58S|ZNF438_ENST00000452305.1_Missense_Mutation_p.R48S|ZNF438_ENST00000436087.2_Missense_Mutation_p.R58S|ZNF438_ENST00000375311.1_5'UTR			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	58					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)				TGATCAGAGCGTGATGGTGAA	0.512																																																	0													181	168	172					10																	31139162		2203	4300	6503	SO:0001583	missense	0			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.172C>A	10.37:g.31139162G>T	ENSP00000354663:p.Arg58Ser		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R58S	ENST00000361310.3	37	c.172	CCDS7168.1	10	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010292	0.19277	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896	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	5.63	-1.55	0.08558	.	1.205290	0.05520	N	0.561984	T	0.28167	0.0695	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.14062	-1.0486	10	0.40728	T	0.16	-2.3427	2.9611	0.05893	0.1905:0.3324:0.3644:0.1127	.	58;48	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	S	48;58;58;58;58;48;48;9;58	ENSP00000333571:R48S;ENSP00000354663:R58S;ENSP00000406934:R58S;ENSP00000412363:R58S;ENSP00000387546:R58S;ENSP00000413060:R48S;ENSP00000410898:R48S;ENSP00000445461:R9S	ENSP00000333571:R48S	R	-	1	0	ZNF438	31179168	0.009000	0.17119	0.000000	0.03702	0.570000	0.35934	0.019000	0.13444	-0.226000	0.09899	0.655000	0.94253	CGC	ZNF438	-	NULL	ENSG00000183621		0.512	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1		0	63	0	G	NM_182755		31139162	-1			no_errors	ENST00000361310	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.000	T	T	31139162	G	T	31139162	3	4	179	1	0	0	0	0	1	0	0	0	17958	1145	40	2	2322	2	ZNF438	10	31139162	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	16177363	31139162	104395585	115	44550											
RASGEF1A	221002	genome.wustl.edu	37	chr10	43701554	43701554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggagaagacaacggacGtctggggcatagtttcctgg	9	9	15	8	2	1	2	0	0	1	2	2	4	2	3	1	5	2	3	1	5	3	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:43701554G>A	ENST00000395809.1	-	2	2517	c.11C>T	c.(10-12)aCg>aTg	p.T4M	RASGEF1A_ENST00000472864.1_5'Flank|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.T4M|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.T12M			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	4					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GACAACGGACGTCTGGGGCAT	0.657																																																	0													31	39	36					10																	43701554		2193	4291	6484	SO:0001583	missense	0			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.11C>T	10.37:g.43701554G>A	ENSP00000379154:p.Thr4Met		Q8TBF1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.T4M	ENST00000395809.1	37	c.11	CCDS7202.2	10	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220797	0.79464	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.72615	-0.67;-0.63;-0.63	5.49	4.55	0.56014	.	0.084789	0.50627	D	0.000101	T	0.79167	0.4400	L	0.47190	1.495	0.47862	D	0.999536	D;D	0.89917	1.0;1.0	D;D	0.69824	0.926;0.966	T	0.81206	-0.1038	10	0.87932	D	0	.	15.7015	0.77544	0.0:0.0:0.8627:0.1373	.	4;12	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	M	12;4;4	ENSP00000363583:T12M;ENSP00000379155:T4M;ENSP00000379154:T4M	ENSP00000363583:T12M	T	-	2	0	RASGEF1A	43021560	1.000000	0.71417	0.956000	0.39512	0.833000	0.47200	7.170000	0.77587	2.590000	0.87494	0.655000	0.94253	ACG	RASGEF1A	-	NULL	ENSG00000198915		0.657	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	RASGEF1A	HGNC	protein_coding	OTTHUMT00000313989.1	-	0	36	0	G	NM_145313		43701554	-1	tier1	-	no_errors	ENST00000395809	ensembl	human	known	74_37	missense	38.46	22	15	SNP	0.999	A	A	43701554	G	A	43701554	3	1	179	1	0	0	0	0	1	0	0	0	13114	1145	40	1	1482	1	RASGEF1A	10	43701554	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	12562392	43701554	91833193	116	44551											
UNC5B	219699	genome.wustl.edu	37	chr10	73039676	73039676	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	agccacaggacgcctacattGtgaagaacaagcctgtggag	13	6	12	10	1	0	2	0	1	0	1	0	4	0	4	3	2	4	0	3	2	4	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:73039676G>A	ENST00000335350.6	+	2	594	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	UNC5B_ENST00000373192.4_Missense_Mutation_p.V60M	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	60	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						CGCCTACATTGTGAAGAACAA	0.622																																																	0													71	69	70					10																	73039676		2203	4300	6503	SO:0001583	missense	0			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.178G>A	10.37:g.73039676G>A	ENSP00000334329:p.Val60Met		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.V60M	ENST00000335350.6	37	c.178	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894722	0.91962	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.22945	1.93;1.93	4.52	4.52	0.55395	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61332	-0.7084	10	0.72032	D	0.01	-21.2808	17.2464	0.87029	0.0:0.0:1.0:0.0	.	60;60	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	M	60	ENSP00000334329:V60M;ENSP00000362288:V60M	ENSP00000334329:V60M	V	+	1	0	UNC5B	72709682	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.021000	0.88750	2.051000	0.60960	0.561000	0.74099	GTG	UNC5B	-	smart_Ig_sub	ENSG00000107731		0.622	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1	-	0	33	0	G	NM_170744		73039676	1	tier1	-	no_errors	ENST00000335350	ensembl	human	known	74_37	missense	40.32	36	25	SNP	1.000	A	A	73039676	G	A	73039676	3	1	179	1	0	0	0	0	1	0	0	0	17041	1377	48	3	184	3	UNC5B	10	73039676	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	29338122	73039676	62495071	117	44552											
PPP3CB	5532	genome.wustl.edu	37	chr10	75239222	75239222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcaaccctgggtatcccatCcaaatcaaatacttcttcag	13	11	4	13	0	4	0	3	0	1	0	6	0	6	0	3	1	2	1	3	1	5	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:75239222C>T	ENST00000360663.5	-	2	250	c.139G>A	c.(139-141)Gat>Aat	p.D47N	PPP3CB_ENST00000394829.2_Missense_Mutation_p.D47N|PPP3CB_ENST00000545874.1_5'UTR|PPP3CB_ENST00000394828.2_Missense_Mutation_p.D47N|PPP3CB_ENST00000342558.3_Missense_Mutation_p.D47N|PPP3CB_ENST00000394822.2_Missense_Mutation_p.D47N			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	47	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GGTATCCCATCCAAATCAAAT	0.393																																																	0													111	107	108					10																	75239222		2203	4300	6503	SO:0001583	missense	0			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9315	protein-coding gene	gene with protein product	"calcineurin A beta", "protein phosphatase 2B, catalytic subunit, beta isoform"	114106	"protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)", "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.139G>A	10.37:g.75239222C>T	ENSP00000353881:p.Asp47Asn		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.D47N	ENST00000360663.5	37	c.139	CCDS7328.1	10	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942230	0.34283	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000394822	T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47	5.61	4.71	0.59529	.	0.494629	0.17707	N	0.164712	T	0.04092	0.0114	N	0.16066	0.365	0.80722	D	1	B;B;B;B	0.22909	0.0;0.0;0.077;0.0	B;B;B;B	0.19148	0.002;0.0;0.024;0.0	T	0.38779	-0.9645	10	0.08381	T	0.77	.	13.9358	0.64023	0.0:0.9276:0.0:0.0724	.	47;47;47;47	P16298-2;P16298-3;Q8N1F0;P16298	.;.;.;PP2BB_HUMAN	N	47	ENSP00000353881:D47N;ENSP00000378306:D47N;ENSP00000378305:D47N;ENSP00000343147:D47N;ENSP00000378299:D47N	ENSP00000343147:D47N	D	-	1	0	PPP3CB	74909228	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.872000	0.63050	2.661000	0.90470	0.655000	0.94253	GAT	PPP3CB	-	NULL	ENSG00000107758		0.393	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	PPP3CB	HGNC	protein_coding	OTTHUMT00000048669.1		0	23	0	C	NM_021132		75239222	-1			no_errors	ENST00000394829	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	75239222	C	T	75239222	3	4	179	1	0	0	0	0	1	0	0	0	12440	855	30	3	1490	3	PPP3CB	10	75239222	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	2199546	75239222	60295525	118	44553											
C10orf99	387695	genome.wustl.edu	37	chr10	85936240	85936240	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtgtccaccctcagggaaGaggcgtcctgccaaggcctg	7	8	13	13	1	1	1	1	0	0	1	3	2	3	2	5	3	1	0	5	3	2	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:85936240G>C	ENST00000372126.3	+	2	189	c.75G>C	c.(73-75)aaG>aaC	p.K25N		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	25						extracellular region (GO:0005576)				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CCTCAGGGAAGAGGCGTCCTG	0.562																																																	0													92	75	81					10																	85936240		2203	4300	6503	SO:0001583	missense	0			AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.75G>C	10.37:g.85936240G>C	ENSP00000361199:p.Lys25Asn			Missense_Mutation	SNP	NULL	p.K25N	ENST00000372126.3	37	c.75	CCDS7371.1	10	.	.	.	.	.	.	.	.	.	.	G	4.976	0.181242	0.09495	.	.	ENSG00000188373	ENST00000372126	.	.	.	3.65	-3.92	0.04155	.	.	.	.	.	T	0.21590	0.0520	.	.	.	0.09310	N	1	B	0.33238	0.403	B	0.30029	0.11	T	0.17623	-1.0363	7	0.59425	D	0.04	.	5.8627	0.18757	0.3106:0.1765:0.5129:0.0	.	25	Q6UWK7	CJ099_HUMAN	N	25	.	ENSP00000361199:K25N	K	+	3	2	C10orf99	85926220	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.034000	0.12225	-0.747000	0.04759	-0.390000	0.06520	AAG	C10orf99	-	NULL	ENSG00000188373		0.562	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf99	HGNC	protein_coding	OTTHUMT00000049114.1	-	0	39	0	G	NM_207373		85936240	1	tier1	-	no_errors	ENST00000372126	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.000	C	C	85936240	G	C	85936240	3	2	179	1	0	0	0	0	1	0	0	0	1633	933	33	5	81	5	C10orf99	10	85936240	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	10697018	85936240	49598507	119	44554											
GLUD1	2746	genome.wustl.edu	37	chr10	88820542	88820542	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccaagatgcttccttcaTagggctttgccttggggaag	7	12	11	11	0	1	1	1	0	0	1	3	2	3	2	4	3	2	2	4	3	3	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:88820542T>C	ENST00000277865.4	-	8	1196	c.1100A>G	c.(1099-1101)tAt>tGt	p.Y367C	GLUD1_ENST00000537649.1_Missense_Mutation_p.Y200C|GLUD1_ENST00000465164.1_5'UTR|GLUD1_ENST00000544149.1_Missense_Mutation_p.Y234C	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	367					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)	GCTTCCTTCATAGGGCTTTGC	0.458																																																	0													183	185	184					10																	88820542		2203	4296	6499	SO:0001583	missense	0			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.1100A>G	10.37:g.88820542T>C	ENSP00000277865:p.Tyr367Cys		B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.Y367C	ENST00000277865.4	37	c.1100	CCDS7382.1	10	.	.	.	.	.	.	.	.	.	.	T	15.15	2.749063	0.49257	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.95103	-3.61;-3.61;-3.61	5.61	5.61	0.85477	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96423	0.8833	M	0.80982	2.52	0.80722	D	1	D;D	0.71674	0.961;0.998	P;P	0.62298	0.714;0.9	D	0.96298	0.9219	10	0.56958	D	0.05	-10.9149	11.0557	0.47915	0.1712:0.0:0.0:0.8288	.	234;367	B4DGN5;P00367	.;DHE3_HUMAN	C	367;324;200;66;299;234	ENSP00000277865:Y367C;ENSP00000439291:Y200C;ENSP00000444732:Y234C	ENSP00000277865:Y367C	Y	-	2	0	GLUD1	88810522	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.178000	0.58284	2.265000	0.75225	0.529000	0.55759	TAT	GLUD1	-	pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C	ENSG00000148672		0.458	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	HGNC	protein_coding	OTTHUMT00000049188.1	-	0	81	0	T	NM_005271		88820542	-1	tier1	-	no_errors	ENST00000277865	ensembl	human	known	74_37	missense	35.29	55	30	SNP	1.000	C	C	88820542	T	C	88820542	3	2	179	1	0	0	0	0	1	0	0	0	6502	1406	49	4	600	4	GLUD1	10	88820542	Missense_Mutation	SNP	T	TCGA-XP-A8T7-01A-11D-A36J-09	2884302	88820542	46714205	120	44555											
PLCE1	51196	genome.wustl.edu	37	chr10	95993928	95993928	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgagtacagaaaggtggtGacacgtgccctgcacatccc	10	8	12	11	1	0	3	0	2	0	1	1	3	1	3	2	2	3	2	2	2	2	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:95993928G>A	ENST00000371380.3	+	5	2308	c.2073G>A	c.(2071-2073)gtG>gtA	p.V691V	PLCE1_ENST00000260766.3_Silent_p.V691V|PLCE1_ENST00000371385.3_Silent_p.V383V|PLCE1_ENST00000371375.1_Silent_p.V383V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	691	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)				GAAAGGTGGTGACACGTGCCC	0.532																																																	0													152	156	155					10																	95993928		2061	4193	6254	SO:0001819	synonymous_variant	0				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.2073G>A	10.37:g.95993928G>A			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.V691	ENST00000371380.3	37	c.2073	CCDS41552.1	10																																																																																			PLCE1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000138193		0.532	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0	58	0	G	NM_016341		95993928	1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	silent	42.47	42	31	SNP	1.000	A	A	95993928	G	A	95993928	2	1	179	1	0	0	0	0	0	0	0	1	12073	1277	45	3		3	PLCE1	10	95993928	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	7173386	95993928	39540819	121	44556											
CCDC147	159686	genome.wustl.edu	37	chr10	106160486	106160486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcttgttcggcgcaatGatgagttagctttgctctat	7	15	10	9	2	2	2	1	2	1	0	3	2	2	2	0	1	3	6	0	1	3	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:106160486G>A	ENST00000369704.3	+	13	1998	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	snoU13_ENST00000458914.1_RNA	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		622						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCGGCGCAATGATGAGTTAGC	0.498																																																	0													167	143	151					10																	106160486		2203	4300	6503	SO:0001583	missense	0																														ENST00000369704.3:c.1864G>A	10.37:g.106160486G>A	ENSP00000358718:p.Asp622Asn		D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.D622N	ENST00000369704.3	37	c.1864	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.224311	0.95139	.	.	ENSG00000120051	ENST00000369704	T	0.48522	0.81	5.62	5.62	0.85841	.	0.099113	0.64402	D	0.000002	T	0.61337	0.2339	M	0.78344	2.41	0.80722	D	1	P	0.45768	0.866	P	0.48815	0.591	T	0.60301	-0.7290	10	0.34782	T	0.22	-25.1886	19.645	0.95773	0.0:0.0:1.0:0.0	.	622	Q5T655	CC147_HUMAN	N	622	ENSP00000358718:D622N	ENSP00000358718:D622N	D	+	1	0	CCDC147	106150476	1.000000	0.71417	0.979000	0.43373	0.969000	0.65631	7.948000	0.87774	2.647000	0.89833	0.655000	0.94253	GAT	CCDC147	-	NULL	ENSG00000120051		0.498	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	-	0	42	0	G			106160486	1	tier1	-	no_errors	ENST00000369704	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A	A	106160486	G	A	106160486	3	1	179	1	0	0	0	0	1	0	0	0	2788	1290	45	3	1914	3	CCDC147	10	106160486	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	10166558	106160486	29374261	122	44557											
SORCS3	22986	genome.wustl.edu	37	chr10	106849543	106849543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttcccaggtcggtggccGgattggataaggaggcggac	7	8	16	10	3	0	0	0	0	0	0	2	4	1	4	3	8	0	0	3	8	1	3	rs530482370		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:106849543G>A	ENST00000369701.3	+	6	1266	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	347					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)		GTCGGTGGCCGGATTGGATAA	0.582													G|||	1	0.000199681	0	0	5008	,	,		19072	0		0.001	False		,,,				2504	0				NSCLC(116;1497 1690 7108 13108 14106)												0													101	87	91					10																	106849543		2203	4300	6503	SO:0001583	missense	0			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.1039G>A	10.37:g.106849543G>A	ENSP00000358715:p.Gly347Arg		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.G347R	ENST00000369701.3	37	c.1039	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752424	0.49362	.	.	ENSG00000156395	ENST00000369701	T	0.40225	1.04	6.17	5.27	0.74061	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	M	0.80746	2.51	0.41720	D	0.989507	P	0.47302	0.893	B	0.38428	0.273	T	0.53927	-0.8369	10	0.54805	T	0.06	.	11.7244	0.51702	0.0806:0.0:0.9194:0.0	.	347	Q9UPU3	SORC3_HUMAN	R	347	ENSP00000358715:G347R	ENSP00000358715:G347R	G	+	1	0	SORCS3	106839533	1.000000	0.71417	0.395000	0.26283	0.823000	0.46562	5.903000	0.69877	1.626000	0.50381	0.655000	0.94253	GGA	SORCS3	-	smart_VPS10	ENSG00000156395		0.582	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0	24	0	G	NM_014978		106849543	1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.631	A	A	106849543	G	A	106849543	3	1	179	1	0	0	0	0	1	0	0	0	14977	1117	39	1	1061	1	SORCS3	10	106849543	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	689057	106849543	28685204	123	44558											
TACC2	10579	genome.wustl.edu	37	chr10	123842775	123842775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgacccctgaggcccctGctgcagcccagcagggcaca	9	4	12	16	0	0	2	0	2	0	0	0	2	0	2	5	2	4	4	5	2	1	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:123842775G>A	ENST00000369005.1	+	4	1100	c.760G>A	c.(760-762)Gct>Act	p.A254T	TACC2_ENST00000334433.3_Missense_Mutation_p.A254T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A254T|TACC2_ENST00000515603.1_Missense_Mutation_p.A254T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A254T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	254					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGAGGCCCCTGCTGCAGCCCA	0.612																																																	0													39	46	43					10																	123842775		2203	4299	6502	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.760G>A	10.37:g.123842775G>A	ENSP00000358001:p.Ala254Thr		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.A254T	ENST00000369005.1	37	c.760	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205666	0.39003	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.07021	3.33;3.23;3.25;3.33;3.23	5.57	1.16	0.20824	.	0.487586	0.15427	N	0.262918	T	0.04724	0.0128	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24721	0.11;0.11;0.11	B;B;B	0.20577	0.03;0.03;0.03	T	0.37384	-0.9708	10	0.87932	D	0	0.4161	2.8677	0.05607	0.1677:0.1375:0.553:0.1418	.	254;254;254	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	254;254;254;254;254;244	ENSP00000358001:A254T;ENSP00000424467:A254T;ENSP00000427618:A254T;ENSP00000334280:A254T;ENSP00000395048:A254T	ENSP00000334280:A254T	A	+	1	0	TACC2	123832765	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.030000	0.13688	-0.043000	0.13513	0.555000	0.69702	GCT	TACC2	-	NULL	ENSG00000138162		0.612	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1		0	72	0	G			123842775	1			no_errors	ENST00000334433	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.000	A	A	123842775	G	A	123842775	3	1	179	1	0	0	0	0	1	0	0	0	15549	1319	46	3	770	3	TACC2	10	123842775	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	16993232	123842775	11691972	124	44559											
UROS	7390	genome.wustl.edu	37	chr10	127486714	127486714	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggcagtgctgaggactccCctgtgaataaataaccaggc	12	7	12	10	0	0	2	0	2	0	0	1	4	1	3	3	3	2	2	3	3	4	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:127486714C>A	ENST00000368797.4	-	7	619	c.395G>T	c.(394-396)aGg>aTg	p.R132M	UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368786.1_Splice_Site_p.R132M	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	132					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TGAGGACTCCCCTGTGAATAA	0.532																																																	0													77	75	76					10																	127486714		2203	4300	6503	SO:0001630	splice_region_variant	0			J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"congenital erythropoietic porphyria"	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.395-1G>T	10.37:g.127486714C>A			B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth	p.R132M	ENST00000368797.4	37	c.395	CCDS7648.1	10	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652109	0.47362	.	.	ENSG00000188690	ENST00000368797;ENST00000368786;ENST00000420761	D;D;D	0.92699	-3.09;-3.09;-3.09	4.81	2.85	0.33270	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (2);	0.259165	0.42420	D	0.000704	D	0.90882	0.7135	M	0.63428	1.95	0.80722	D	1	P	0.46142	0.873	P	0.48571	0.582	D	0.87880	0.2677	10	0.46703	T	0.11	.	7.2508	0.26148	0.0:0.7749:0.0:0.2251	.	132	P10746	HEM4_HUMAN	M	132;132;104	ENSP00000357787:R132M;ENSP00000357775:R132M;ENSP00000414833:R104M	ENSP00000357775:R132M	R	-	2	0	UROS	127476704	0.855000	0.29742	0.996000	0.52242	0.876000	0.50452	0.379000	0.20585	0.654000	0.30846	0.655000	0.94253	AGG	UROS	-	pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth	ENSG00000188690		0.532	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROS	HGNC	protein_coding	OTTHUMT00000050929.1		0	48	0	C	NM_000375	Missense_Mutation	127486714	-1			no_errors	ENST00000368786	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	127486714	C	A	127486714	5	1	179	1	0	0	0	0	0	0	1	0	17079	637	22	3	418	3	UROS	10	127486714	Splice_Site	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	3643939	127486714	8048033	125	44560											
BNIP3	664	genome.wustl.edu	37	chr10	133784444	133784444	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagatgctttcaacttCtttccttctttcaatatcat	9	19	2	11	0	6	1	4	0	2	1	7	1	7	1	1	0	2	1	1	0	4	7			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr10:133784444C>A	ENST00000368636.4	-	4	437	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	BNIP3_ENST00000540159.1_Nonsense_Mutation_p.E105*	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	105					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTTCAACTTCTTTCCTTCTT	0.448																																																	0													81	80	80					10																	133784444		2203	4300	6503	SO:0001587	stop_gained	0			U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"BCL2/adenovirus E1B 19kD-interacting protein 3"			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.313G>T	10.37:g.133784444C>A	ENSP00000357625:p.Glu105*		O14620|Q96GP0	Nonsense_Mutation	SNP	pfam_BNIP3	p.E105*	ENST00000368636.4	37	c.313	CCDS7663.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.293882	0.95546	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	3.96	3.96	0.45880	.	0.046527	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-12.2745	17.3272	0.87252	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000357625:E105X	E	-	1	0	BNIP3	133634434	1.000000	0.71417	0.560000	0.28344	0.866000	0.49608	6.576000	0.74023	2.506000	0.84524	0.655000	0.94253	GAA	BNIP3	-	pfam_BNIP3	ENSG00000176171		0.448	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3	HGNC	protein_coding	OTTHUMT00000051039.1	-	0	45	0	C			133784444	-1	tier1	-	no_errors	ENST00000368636	ensembl	human	known	74_37	nonsense	7.81	59	5	SNP	1.000	A	A	133784444	C	A	133784444	4	1	179	1	0	0	0	0	0	1	0	0	1480	922	32	3	283	3	BNIP3	10	133784444	Nonsense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	6297730	133784444	1750303	126	44561											
NLRP14	338323	genome.wustl.edu	37	chr11	7068053	7068053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacccaaactgtaaactaCaaaagctactgtaagtctgg	15	8	8	10	0	1	0	0	0	1	0	1	0	1	0	1	2	5	4	1	2	8	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:7068053C>A	ENST00000299481.4	+	5	2459	c.2113C>A	c.(2113-2115)Caa>Aaa	p.Q705K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	705					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)		CTGTAAACTACAAAAGCTACT	0.383																																																	0													129	119	123					11																	7068053		2201	4296	6497	SO:0001583	missense	0			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.2113C>A	11.37:g.7068053C>A	ENSP00000299481:p.Gln705Lys		Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q705K	ENST00000299481.4	37	c.2113	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001666	0.35320	.	.	ENSG00000158077	ENST00000299481	D	0.91068	-2.78	4.84	2.83	0.33086	.	0.000000	0.46442	D	0.000294	D	0.88108	0.6348	L	0.60455	1.87	0.28814	N	0.898056	D	0.57257	0.979	P	0.48552	0.581	T	0.81782	-0.0775	10	0.38643	T	0.18	.	5.6818	0.17780	0.1919:0.7088:0.0:0.0994	.	705	Q86W24	NAL14_HUMAN	K	705	ENSP00000299481:Q705K	ENSP00000299481:Q705K	Q	+	1	0	NLRP14	7024629	0.999000	0.42202	0.924000	0.36721	0.190000	0.23558	0.435000	0.21510	1.407000	0.46875	0.585000	0.79938	CAA	NLRP14	-	NULL	ENSG00000158077		0.383	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	-	0	70	0	C	NM_176822		7068053	1	tier1	-	no_errors	ENST00000299481	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.994	A	A	7068053	C	A	7068053	3	1	179	1	0	0	0	0	1	0	0	0	10515	479	17	3	2127	3	NLRP14	11	7068053	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09		7068053	127938463	127	44562											
RBMXL2	27288	genome.wustl.edu	37	chr11	7111345	7111345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacagcagcagttatggcCggagcgaccgctactcgagg	9	7	14	11	4	0	0	0	0	0	0	1	3	0	1	2	3	5	5	2	3	3	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:7111345C>T	ENST00000306904.5	+	1	1181	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	332	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTTATGGCCGGAGCGACCG	0.647																																																	0													20	21	21					11																	7111345		2197	4290	6487	SO:0001583	missense	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.994C>T	11.37:g.7111345C>T	ENSP00000304139:p.Arg332Trp		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R332W	ENST00000306904.5	37	c.994	CCDS7777.1	11	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730029	0.69074	.	.	ENSG00000170748	ENST00000306904	T	0.80304	-1.36	3.73	3.73	0.42828	.	0.000000	0.64402	U	0.000001	D	0.85873	0.5798	M	0.62723	1.935	0.46631	D	0.999139	D	0.89917	1.0	D	0.87578	0.998	D	0.85853	0.1405	10	0.66056	D	0.02	.	8.8356	0.35111	0.2239:0.7761:0.0:0.0	.	332	O75526	HNRGT_HUMAN	W	332	ENSP00000304139:R332W	ENSP00000304139:R332W	R	+	1	2	RBMXL2	7067921	1.000000	0.71417	0.986000	0.45419	0.856000	0.48823	1.425000	0.34859	2.365000	0.80145	0.563000	0.77884	CGG	RBMXL2	-	NULL	ENSG00000170748		0.647	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	-	0	38	0	C	NM_014469		7111345	1	tier1	-	no_errors	ENST00000306904	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	T	T	7111345	C	T	7111345	3	4	179	1	0	0	0	0	1	0	0	0	13199	643	23	1	996	1	RBMXL2	11	7111345	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	43292	7111345	127895171	128	44563											
MICAL2	9645	genome.wustl.edu	37	chr11	12278428	12278428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatggaacggctgagcgccGagggccacttcttccaccgg	7	7	14	13	4	1	2	0	2	1	0	2	4	2	3	4	4	2	1	4	4	1	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:12278428G>A	ENST00000256194.4	+	24	3340	c.3052G>A	c.(3052-3054)Gag>Aag	p.E1018K	MICAL2_ENST00000537344.1_Missense_Mutation_p.E828K|MICAL2_ENST00000379612.3_Missense_Mutation_p.E792K|MICAL2_ENST00000527546.1_Missense_Mutation_p.E828K|MICAL2_ENST00000342902.5_Missense_Mutation_p.E997K	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1018	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)		GCTGAGCGCCGAGGGCCACTT	0.567																																																	0													118	95	103					11																	12278428		2201	4294	6495	SO:0001583	missense	0			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.3052G>A	11.37:g.12278428G>A	ENSP00000256194:p.Glu1018Lys		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.E1018K	ENST00000256194.4	37	c.3052	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.560221	0.96527	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.17	5.17	0.71159	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.79926	2.475	0.45930	D	0.998763	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	0.991;0.994;0.996;0.997;0.996;0.999	D	0.94539	0.7743	10	0.87932	D	0	.	18.2925	0.90135	0.0:0.0:1.0:0.0	.	361;997;828;771;792;1018	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	K	828;361;1018;828;997;792	ENSP00000441689:E828K;ENSP00000256194:E1018K;ENSP00000433965:E828K;ENSP00000344894:E997K;ENSP00000368932:E792K	ENSP00000256194:E1018K	E	+	1	0	MICAL2	12235004	1.000000	0.71417	0.985000	0.45067	0.873000	0.50193	9.726000	0.98782	2.407000	0.81776	0.655000	0.94253	GAG	MICAL2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000133816		0.567	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	-	0	31	0	G	NM_014632		12278428	1	tier1	-	no_errors	ENST00000256194	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	A	A	12278428	G	A	12278428	3	1	179	1	0	0	0	0	1	0	0	0	9608	1059	37	1	3138	1	MICAL2	11	12278428	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	5167083	12278428	122728088	129	44564											
TSG101	7251	genome.wustl.edu	37	chr11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccagtttctggtgacccTttttcaggtcttcttctgtt	3	20	7	11	0	5	1	1	1	4	0	6	1	6	1	2	2	0	2	2	2	0	7			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000536719.1_Missense_Mutation_p.K265R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					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						CTGGTGACCCTTTTTCAGGTC	0.438																																					GBM(99;1348 1396 8611 26475 50572)												0													262	254	257					11																	18505466		2199	4293	6492	SO:0001583	missense	0			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.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg		Q9BUM5	Missense_Mutation	SNP	pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD	p.K265R	ENST00000251968.3	37	c.794	CCDS7842.1	11	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG	TSG101	-	NULL	ENSG00000074319		0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSG101	HGNC	protein_coding	OTTHUMT00000395906.1		0	43	0	T	NM_006292		18505466	-1			no_errors	ENST00000251968	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	C	C	18505466	T	C	18505466	3	2	179	1	0	0	0	0	1	0	0	0	16664	1609	56	4	390	4	TSG101	11	18505466	Missense_Mutation	SNP	T	TCGA-XP-A8T7-01A-11D-A36J-09	6227038	18505466	116501050	130	44565											
KCNA4	3739	genome.wustl.edu	37	chr11	30033503	30033503	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacattgactggcctcttCaggcggcctcctgattgata	7	11	12	11	1	2	3	1	3	1	0	3	4	3	4	3	4	0	0	3	4	1	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:30033503C>A	ENST00000328224.6	-	2	1956	c.723G>T	c.(721-723)ctG>ctT	p.L241L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	241					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)	p.L241L(1)		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)	CTGGCCTCTTCAGGCGGCCTC	0.498																																																	1	Substitution - coding silent(1)	urinary_tract(1)											96	87	89					11																	30033503		1868	4125	5993	SO:0001819	synonymous_variant	0			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.723G>T	11.37:g.30033503C>A				Silent	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.L241	ENST00000328224.6	37	c.723	CCDS41629.1	11																																																																																			KCNA4	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000182255		0.498	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2		0	28	0	C	NM_002233		30033503	-1			no_errors	ENST00000328224	ensembl	human	known	74_37	silent	5.26	36	2	SNP	1.000	A	A	30033503	C	A	30033503	2	1	179	1	0	0	0	0	0	0	0	1	8032	813	29	3		3	KCNA4	11	30033503	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	11528037	30033503	104973013	131	44566											
CKAP5	9793	genome.wustl.edu	37	chr11	46780574	46780574	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	actgtgcatgtcatcgaagtGtggagaaacagcccggatcc	11	8	12	10	2	1	1	1	0	0	1	3	4	2	2	2	2	3	1	2	2	2	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:46780574G>T	ENST00000529230.1	-	35	4634	c.4588C>A	c.(4588-4590)Cac>Aac	p.H1530N	SNORD67_ENST00000516618.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.H1530N|CKAP5_ENST00000312055.5_Missense_Mutation_p.H1530N|CKAP5_ENST00000415402.1_Missense_Mutation_p.H1530N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1530					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						TCATCGAAGTGTGGAGAAACA	0.423																																					Ovarian(4;85 273 2202 4844 13323)												0													202	174	184					11																	46780574		2201	4299	6500	SO:0001583	missense	0				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.4588C>A	11.37:g.46780574G>T	ENSP00000432768:p.His1530Asn		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2	p.H1530N	ENST00000529230.1	37	c.4588	CCDS31477.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.10|12.10	1.837893|1.837893	0.32513|0.32513	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.43294|.	0.95;0.95;0.98;0.98|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59238|0.59238	0.2179|0.2179	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;P;P|.	0.52692|.	0.955;0.782;0.675|.	P;P;B|.	0.47162|.	0.54;0.503;0.307|.	T|T	0.51942|0.51942	-0.8641|-0.8641	10|5	0.22109|.	T|.	0.4|.	-10.0342|-10.0342	19.7999|19.7999	0.96502|0.96502	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1530;1530;1530|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	N|K	1530;1530;1530;1530;261|86	ENSP00000432768:H1530N;ENSP00000395302:H1530N;ENSP00000310227:H1530N;ENSP00000346566:H1530N|.	ENSP00000310227:H1530N|.	H|T	-|-	1|2	0|0	CKAP5|CKAP5	46737150|46737150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.813000|9.813000	0.99286|0.99286	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	CAC|ACA	CKAP5	-	superfamily_ARM-type_fold	ENSG00000175216		0.423	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	-	0	51	0	G	NM_014756		46780574	-1	tier1	-	no_errors	ENST00000415402	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	46780574	G	T	46780574	3	4	179	1	0	0	0	0	1	0	0	0	3452	1377	48	3	1550	3	CKAP5	11	46780574	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	16747071	46780574	88225942	132	44567											
OR5L2	26338	genome.wustl.edu	37	chr11	55594834	55594834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccaatctgggcatgactgCactgattcaggtcagctctc	9	10	10	12	0	4	2	2	2	2	0	5	2	4	2	1	2	3	3	1	2	1	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:55594834C>A	ENST00000378397.1	+	1	140	c.140C>A	c.(139-141)gCa>gAa	p.A47E		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GGCATGACTGCACTGATTCAG	0.493										HNSCC(27;0.073)																																							0													317	277	290					11																	55594834		2200	4296	6496	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.140C>A	11.37:g.55594834C>A	ENSP00000367650:p.Ala47Glu		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A47E	ENST00000378397.1	37	c.140	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	11.23	1.576247	0.28092	.	.	ENSG00000205030	ENST00000378397	T	0.01092	5.35	5.31	0.742	0.18341	GPCR, rhodopsin-like superfamily (1);	0.964949	0.08518	N	0.933905	T	0.03305	0.0096	M	0.79258	2.445	0.09310	N	1	P	0.52842	0.956	P	0.50754	0.649	T	0.42032	-0.9475	10	0.48119	T	0.1	0.1146	6.7151	0.23298	0.0:0.4264:0.0:0.5736	.	47	Q8NGL0	OR5L2_HUMAN	E	47	ENSP00000367650:A47E	ENSP00000367650:A47E	A	+	2	0	OR5L2	55351410	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.371000	0.07513	0.347000	0.23924	0.626000	0.83405	GCA	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205030		0.493	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	-	0	59	0	C	NM_001004739		55594834	1	tier1	-	no_errors	ENST00000378397	ensembl	human	known	74_37	missense	26.67	66	24	SNP	0.000	A	A	55594834	C	A	55594834	3	1	179	1	0	0	0	0	1	0	0	0	11210	710	25	3	142	3	OR5L2	11	55594834	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	8814260	55594834	79411682	133	44568											
TAF6L	10629	genome.wustl.edu	37	chr11	62549432	62549432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccttactttgtttatgtgGtcagtggggtaagtgaccag	7	15	13	6	0	1	1	1	1	0	0	1	1	1	1	2	3	2	2	2	3	3	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:62549432G>A	ENST00000294168.3	+	7	799	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	200					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TGTTTATGTGGTCAGTGGGGT	0.517																																																	0													86	79	81					11																	62549432		2201	4299	6500	SO:0001583	missense	0			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.598G>A	11.37:g.62549432G>A	ENSP00000294168:p.Val200Ile		B2RAT0|Q96HA6	Missense_Mutation	SNP	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.V200I	ENST00000294168.3	37	c.598	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	G	8.934	0.964210	0.18583	.	.	ENSG00000162227	ENST00000294168	T	0.63096	-0.02	5.4	5.4	0.78164	.	0.067439	0.64402	D	0.000013	T	0.36220	0.0959	N	0.03608	-0.345	0.80722	D	1	B	0.19706	0.038	B	0.17433	0.018	T	0.37337	-0.9710	10	0.02654	T	1	-3.867	16.7038	0.85366	0.0:0.0:1.0:0.0	.	200	Q9Y6J9	TAF6L_HUMAN	I	200	ENSP00000294168:V200I	ENSP00000294168:V200I	V	+	1	0	TAF6L	62306008	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.825000	0.75293	2.813000	0.96785	0.561000	0.74099	GTC	TAF6L	-	NULL	ENSG00000162227		0.517	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	HGNC	protein_coding	OTTHUMT00000395352.1	-	0	49	0	G	NM_006473		62549432	1	tier1	-	no_errors	ENST00000294168	ensembl	human	known	74_37	missense	24.29	53	17	SNP	1.000	A	A	62549432	G	A	62549432	3	1	179	1	0	0	0	0	1	0	0	0	15578	1261	44	3	620	3	TAF6L	11	62549432	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	6954598	62549432	72457084	134	44569											
SLC22A6	9356	genome.wustl.edu	37	chr11	62747271	62747271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgcagccatctgggcaGgccggcgacccagggagttg	7	5	17	12	2	1	0	0	0	1	0	1	2	1	1	3	4	2	4	3	4	0	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:62747271G>T	ENST00000377871.3	-	7	1453	c.1187C>A	c.(1186-1188)cCt>cAt	p.P396H	SLC22A6_ENST00000421062.2_Missense_Mutation_p.P396H|SLC22A6_ENST00000360421.4_Missense_Mutation_p.P396H|SLC22A6_ENST00000458333.2_Missense_Mutation_p.P396H|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	396					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CATCTGGGCAGGCCGGCGACC	0.597																																																	0													52	51	51					11																	62747271		2201	4298	6499	SO:0001583	missense	0			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1187C>A	11.37:g.62747271G>T	ENSP00000367102:p.Pro396His		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.P396H	ENST00000377871.3	37	c.1187	CCDS31591.1	11	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176143	0.38413	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	4.49	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.307287	0.35646	N	0.003064	T	0.75568	0.3867	L	0.54965	1.715	0.35062	D	0.761693	D;D;P;P	0.54207	0.965;0.965;0.942;0.929	P;P;P;P	0.60345	0.799;0.799;0.873;0.799	T	0.75508	-0.3293	10	0.15499	T	0.54	.	6.5999	0.22695	0.2113:0.0:0.7887:0.0	.	396;396;396;396	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	H	396;375;396;396;396	ENSP00000353597:P396H;ENSP00000367102:P396H;ENSP00000396401:P396H;ENSP00000404441:P396H	ENSP00000353597:P396H	P	-	2	0	SLC22A6	62503847	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.886000	0.28241	1.086000	0.41228	0.511000	0.50034	CCT	SLC22A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197901		0.597	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	-	0	23	0	G	NM_004790		62747271	-1	tier1	-	no_errors	ENST00000377871	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.984	T	T	62747271	G	T	62747271	3	4	179	1	0	0	0	0	1	0	0	0	14503	1000	35	3	520	3	SLC22A6	11	62747271	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	197839	62747271	72259245	135	44570											
DPP3	10072	genome.wustl.edu	37	chr11	66259001	66259001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaccaggggcagatgctgGcccagtatatagagagcttc	10	7	13	11	0	0	2	0	0	0	2	1	3	0	2	3	3	2	4	3	3	3	4	rs200633983		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:66259001G>T	ENST00000360510.2	+	8	900	c.835G>T	c.(835-837)Gcc>Tcc	p.A279S	DPP3_ENST00000541961.1_Missense_Mutation_p.A279S|DPP3_ENST00000530165.1_Missense_Mutation_p.A249S|DPP3_ENST00000531863.1_Missense_Mutation_p.A299S|DPP3_ENST00000453114.1_Missense_Mutation_p.A279S|DPP3_ENST00000532677.1_Missense_Mutation_p.A298S			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	279					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCAGATGCTGGCCCAGTATAT	0.657											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		13769	0		0.001	False		,,,				2504	0																0													26	30	29					11																	66259001		2200	4295	6495	SO:0001583	missense	0			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.835G>T	11.37:g.66259001G>T	ENSP00000353701:p.Ala279Ser	1090	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	pirsf_Dipeptidyl-peptase3	p.A279S	ENST00000360510.2	37	c.835	CCDS8141.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.00	2.105260	0.37145	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000533725;ENST00000543807	T;T;T;T;T;T;T	0.47177	2.03;2.03;2.03;2.03;2.03;2.03;0.85	5.21	3.31	0.37934	.	0.264922	0.42682	D	0.000661	T	0.25717	0.0626	N	0.10874	0.06	0.31935	N	0.611625	B;B	0.06786	0.001;0.0	B;B	0.12837	0.004;0.008	T	0.19679	-1.0298	10	0.25751	T	0.34	.	9.306	0.37876	0.1771:0.0:0.8229:0.0	.	298;279	G3V1D3;Q9NY33	.;DPP3_HUMAN	S	299;298;279;279;279;249;177;177	ENSP00000432782:A299S;ENSP00000435284:A298S;ENSP00000353701:A279S;ENSP00000389943:A279S;ENSP00000440502:A279S;ENSP00000436941:A249S;ENSP00000434518:A177S	ENSP00000353701:A279S	A	+	1	0	DPP3	66015577	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.666000	0.61554	1.325000	0.45301	-0.140000	0.14226	GCC	DPP3	-	pirsf_Dipeptidyl-peptase3	ENSG00000254986		0.657	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	HGNC	protein_coding	OTTHUMT00000393424.2		0	41	0	G			66259001	1			no_errors	ENST00000360510	ensembl	human	known	74_37	missense	5.95	79	5	SNP	1.000	T	T	66259001	G	T	66259001	3	4	179	1	0	0	0	0	1	0	0	0	4742	1203	42	3	861	3	DPP3	11	66259001	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	3511730	66259001	68747515	136	44571											
C11orf80	79703	genome.wustl.edu	37	chr11	66512287	66512287	+	Missense_Mutation	SNP	A	A	G	1	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	gttccaagcccgggctgaggAgggggcggcggcggcggcgg	4	3	23	11	6	0	1	0	1	0	0	1	2	1	2	2	9	1	2	2	9	1	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:66512287A>G	ENST00000360962.4	+	1	81	c.74A>G	c.(73-75)gAg>gGg	p.E25G	C11orf80_ENST00000527634.1_5'UTR|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000346672.4_5'UTR|C11orf80_ENST00000532565.2_5'Flank|C11orf80_ENST00000540737.1_5'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	25										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						CGGGCTGAGGAGGGggcggcg	0.791																																																	0													1	1	1					11																	66512287		258	821	1079	SO:0001583	missense	0					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.74A>G	11.37:g.66512287A>G	ENSP00000354227:p.Glu25Gly		Q9H677	Missense_Mutation	SNP	NULL	p.E25G	ENST00000360962.4	37	c.74	CCDS53664.1	11	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186595	0.57909	.	.	ENSG00000173715	ENST00000360962	T	0.34859	1.34	2.37	-2.8	0.05823	.	.	.	.	.	T	0.26195	0.0639	.	.	.	0.24707	N	0.99323	.	.	.	.	.	.	T	0.32134	-0.9918	6	0.46703	T	0.11	.	3.4329	0.07434	0.328:0.4124:0.0:0.2596	.	.	.	.	G	25	ENSP00000354227:E25G	ENSP00000354227:E25G	E	+	2	0	C11orf80	66268863	0.366000	0.25014	0.017000	0.16124	0.392000	0.30506	0.135000	0.15952	-0.581000	0.05937	0.379000	0.24179	GAG	C11orf80	-	NULL	ENSG00000173715		0.791	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf80	HGNC	protein_coding			0	11	0	A	NM_024650		66512287	1			no_errors	ENST00000360962	ensembl	human	known	74_37	missense	7.89	68	6	SNP	0.021	G	G	66512287	A	G	66512287	3	3	179	1	0	0	0	0	1	0	0	0	1669	304	11	4	76	4	C11orf80	11	66512287	Missense_Mutation	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09	253286	66512287	68494229	137	44572											
GRM5	2915	genome.wustl.edu	37	chr11	88300621	88300621	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	caacaatccattgtatccaaGtggagtgacaactcctaggt	13	10	8	10	0	0	1	0	1	0	0	3	2	3	2	3	2	2	1	3	2	6	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:88300621G>T	ENST00000305447.4	-	7	2379	c.2230C>A	c.(2230-2232)Ctt>Att	p.L744I	GRM5_ENST00000393297.1_Missense_Mutation_p.L744I|GRM5_ENST00000455756.2_Missense_Mutation_p.L744I|GRM5_ENST00000418177.2_Missense_Mutation_p.L744I|GRM5_ENST00000305432.5_Missense_Mutation_p.L744I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	744					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)	TTGTATCCAAGTGGAGTGACA	0.448																																																	0													166	135	146					11																	88300621		2201	4299	6500	SO:0001583	missense	0			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.2230C>A	11.37:g.88300621G>T	ENSP00000306138:p.Leu744Ile		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.L744I	ENST00000305447.4	37	c.2230	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299317	0.60195	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.58	5.58	0.84498	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	M	0.66939	2.045	0.41138	D	0.98593	D;D	0.76494	0.998;0.999	D;D	0.80764	0.99;0.994	D	0.94063	0.7328	9	.	.	.	.	19.5629	0.95380	0.0:0.0:1.0:0.0	.	744;744	P41594-2;P41594	.;GRM5_HUMAN	I	744	ENSP00000402912:L744I;ENSP00000405690:L744I;ENSP00000305905:L744I;ENSP00000306138:L744I;ENSP00000376975:L744I	.	L	-	1	0	GRM5	87940269	1.000000	0.71417	0.881000	0.34555	0.917000	0.54804	6.719000	0.74718	2.640000	0.89533	0.561000	0.74099	CTT	GRM5	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000168959		0.448	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1		0	63	0	G	NM_000842		88300621	-1			no_errors	ENST00000305447	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.997	T	T	88300621	G	T	88300621	3	4	179	1	0	0	0	0	1	0	0	0	6827	1029	36	3	1420	3	GRM5	11	88300621	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	21788334	88300621	46705895	138	44573											
YAP1	10413	genome.wustl.edu	37	chr11	102100570	102100570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagaaggagaggagctgatgCcaagtctgcaggaagctttg	12	8	15	6	0	1	3	0	1	1	2	1	6	1	5	1	3	4	3	1	3	4	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:102100570C>G	ENST00000282441.5	+	9	1802	c.1414C>G	c.(1414-1416)Cca>Gca	p.P472A	YAP1_ENST00000524575.1_Missense_Mutation_p.P294A|YAP1_ENST00000526343.1_Missense_Mutation_p.P418A|YAP1_ENST00000537274.1_Missense_Mutation_p.P460A|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000345877.2_Missense_Mutation_p.P422A|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000531439.1_Missense_Mutation_p.P456A	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	472	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)		GGAGCTGATGCCAAGTCTGCA	0.453																																					Colon(50;247 1103 7861 28956)												0													134	128	130					11																	102100570		2203	4299	6502	SO:0001583	missense	0				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.1414C>G	11.37:g.102100570C>G	ENSP00000282441:p.Pro472Ala		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.P472A	ENST00000282441.5	37	c.1414	CCDS44716.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.587617|4.587617	0.86851|0.86851	.|.	.|.	ENSG00000137693|ENSG00000137693	ENST00000529029|ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	.|T;T;T	.|0.61859	.|0.07;0.09;0.29	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66723|0.66723	0.2818|0.2818	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.993;1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.971;0.999;0.994;0.999;0.996;0.997	T|T	0.62723|0.62723	-0.6794|-0.6794	5|10	.|0.34782	.|T	.|0.22	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|294;389;418;456;472;422	.|B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3	.|.;.;.;.;YAP1_HUMAN;.	W|A	225|418;472;460;422;389;456;294	.|ENSP00000434134:P418A;ENSP00000331023:P422A;ENSP00000435602:P294A	.|ENSP00000282441:P472A	C|P	+|+	3|1	2|0	YAP1|YAP1	101605780|101605780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.675000|5.675000	0.68123|0.68123	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TGC|CCA	YAP1	-	NULL	ENSG00000137693		0.453	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YAP1	HGNC	protein_coding	OTTHUMT00000394151.1	-	0	62	0	C	NM_006106		102100570	1	tier1	-	no_errors	ENST00000282441	ensembl	human	known	74_37	missense	62.79	16	27	SNP	1.000	G	G	102100570	C	G	102100570	3	3	179	1	0	0	0	0	1	0	0	0	17515	739	26	5	1460	5	YAP1	11	102100570	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	13799949	102100570	32905946	139	44574											
KIAA1826	84437	genome.wustl.edu	37	chr11	105880531	105880531	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cttttctctttcaatctgcaGccgctccttctctagctgaa	6	16	5	14	1	4	1	1	1	3	0	7	1	5	1	2	0	3	3	2	0	3	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:105880531G>T	ENST00000301919.4	-	3	2184	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	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	257						nucleus (GO:0005634)											TCAATCTGCAGCCGCTCCTTC	0.458																																																	0													95	92	93					11																	105880531		2201	4299	6500	SO:0001583	missense	0			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.769C>A	11.37:g.105880531G>T	ENSP00000304713:p.Leu257Met		Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	NULL	p.L257M	ENST00000301919.4	37	c.769	CCDS31663.1	11	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019449	0.54576	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.34	4.43	0.53597	.	0.000000	0.64402	D	0.000001	T	0.63757	0.2538	L	0.32530	0.975	0.40344	D	0.979069	D	0.58970	0.984	D	0.70487	0.969	T	0.65878	-0.6061	9	0.52906	T	0.07	-17.2508	11.4365	0.50070	0.1466:0.0:0.8534:0.0	.	257	Q8NCY6	K1826_HUMAN	M	257	.	ENSP00000304713:L257M	L	-	1	2	KIAA1826	105385741	0.994000	0.37717	1.000000	0.80357	0.739000	0.42172	1.606000	0.36826	1.384000	0.46424	0.491000	0.48974	CTG	MSANTD4	-	NULL	ENSG00000170903		0.458	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD4	HGNC	protein_coding	OTTHUMT00000388619.1		0	29	0	G	NM_032424		105880531	-1			no_errors	ENST00000301919	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	105880531	G	T	105880531	3	4	179	1	0	0	0	0	1	0	0	0	8287	962	34	3	272	3	KIAA1826	11	105880531	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	3779961	105880531	29125985	140	44575											
NPAT	4863	genome.wustl.edu	37	chr11	108058908	108058908	+	Splice_Site	SNP	T	T	A	0	1	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	acatttaaagcttctccagcTgtatttcaagaaaacataac	16	12	4	9	0	2	1	1	0	1	1	3	1	2	1	1	0	4	3	1	0	7	6			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:108058908T>A	ENST00000278612.8	-	7	662		c.e7-2		NPAT_ENST00000610253.1_Splice_Site	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus						positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CTTCTCCAGCTGTATTTCAAG	0.318																																																	0													90	87	88					11																	108058908		1815	4079	5894	SO:0001630	splice_region_variant	0			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.557-2A>T	11.37:g.108058908T>A			A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Splice_Site	SNP	-	e7-2	ENST00000278612.8	37	c.557-2	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162775	0.78226	.	.	ENSG00000149308	ENST00000278612	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8649	0.70406	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPAT	107564118	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.029000	0.64121	2.330000	0.79161	0.477000	0.44152	.	NPAT	-	-	ENSG00000149308		0.318	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2	-	0	37	0	T	NM_002519	Intron	108058908	-1	tier1	-	no_errors	ENST00000278612	ensembl	human	known	74_37	splice_site	56.25	14	18	SNP	1.000	A	A	108058908	T	A	108058908	5	1	179	1	0	0	0	0	0	0	1	0	10605	1594	55	5	3776	5	NPAT	11	108058908	Splice_Site	SNP	T	TCGA-XP-A8T7-01A-11D-A36J-09	2178377	108058908	26947608	141	44576											
TECTA	7007	genome.wustl.edu	37	chr11	120989026	120989026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attccccaggacaattccttCggcgaggggaggtgttttgg	7	11	14	9	2	0	0	0	0	0	0	3	3	2	2	3	6	0	1	3	6	1	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr11:120989026C>T	ENST00000392793.1	+	7	1073	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	TECTA_ENST00000264037.2_Missense_Mutation_p.R268W			O75443	TECTA_HUMAN	tectorin alpha	268	VWFC.				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)		ACAATTCCTTCGGCGAGGGGA	0.493																																																	0													67	63	64					11																	120989026		2203	4299	6502	SO:0001583	missense	0			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.802C>T	11.37:g.120989026C>T	ENSP00000376543:p.Arg268Trp			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.R268W	ENST00000392793.1	37	c.802	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234424	0.79800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.66099	-0.19;-0.19	5.66	5.66	0.87406	von Willebrand factor, type C (1);	0.065114	0.64402	D	0.000015	T	0.75459	0.3852	L	0.60455	1.87	0.35964	D	0.834817	D	0.89917	1.0	P	0.60609	0.877	T	0.80819	-0.1212	10	0.72032	D	0.01	.	19.7628	0.96329	0.0:1.0:0.0:0.0	.	268	O75443	TECTA_HUMAN	W	268	ENSP00000376543:R268W;ENSP00000264037:R268W	ENSP00000264037:R268W	R	+	1	2	TECTA	120494236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.071000	0.50041	2.653000	0.90120	0.563000	0.77884	CGG	TECTA	-	smart_VWC_out	ENSG00000109927		0.493	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0	50	0	C	NM_005422		120989026	1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	120989026	C	T	120989026	3	4	179	1	0	0	0	0	1	0	0	0	15794	875	31	1	824	1	TECTA	11	120989026	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	12930118	120989026	14017490	142	44577											
CACNA1C	775	genome.wustl.edu	37	chr12	2695017	2695017	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctagatcaacatggatgaccTccagcccaatgaaaatgagg	15	7	9	10	0	1	4	1	3	0	1	2	5	2	5	3	2	2	0	3	2	5	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:2695017T>C	ENST00000347598.4	+	18	2477	c.2477T>C	c.(2476-2478)cTc>cCc	p.L826P	CACNA1C_ENST00000399595.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L826P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L826P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000480911.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L851P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399655.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L826P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L826P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L826P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	826					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)	ATGGATGACCTCCAGCCCAAT	0.507																																																	0													85	86	86					12																	2695017		1875	4113	5988	SO:0001583	missense	0			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.2477T>C	12.37:g.2695017T>C	ENSP00000266376:p.Leu826Pro		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L826P	ENST00000347598.4	37	c.2477	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562522	0.45694	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96459	-3.96;-3.96;-3.97;-3.96;-3.96;-3.96;-3.98;-3.88;-3.92;-3.97;-3.9;-3.89;-3.97;-4.02;-3.88;-3.81;-4.02;-3.98;-3.96;-3.99;-3.9;-3.99;-4.02	5.68	5.68	0.88126	.	1.543580	0.03116	N	0.163117	D	0.97077	0.9045	L	0.50333	1.59	0.54753	D	0.999985	D;P;B;P;P;P;P;P;B;B;P;P;B;P;P;P;P;P;P;B;P;P;P;P;B;P	0.53885	0.963;0.824;0.41;0.956;0.928;0.852;0.786;0.759;0.0;0.244;0.852;0.786;0.001;0.889;0.828;0.646;0.955;0.496;0.852;0.0;0.786;0.852;0.928;0.786;0.284;0.786	P;P;B;P;P;P;B;P;B;B;P;B;B;P;B;B;P;B;P;B;B;P;P;B;B;B	0.56278	0.736;0.522;0.195;0.564;0.795;0.628;0.44;0.628;0.003;0.212;0.628;0.44;0.003;0.596;0.34;0.424;0.542;0.284;0.528;0.003;0.342;0.528;0.718;0.44;0.122;0.342	D	0.89322	0.3641	10	0.56958	D	0.05	.	10.67	0.45753	0.1432:0.0:0.0:0.8568	.	826;823;826;826;826;826;826;826;826;826;826;826;797;826;826;826;826;826;826;826;826;826;826;826;826;826	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	P	851;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;826;667	ENSP00000336982:L851P;ENSP00000382563:L826P;ENSP00000437936:L826P;ENSP00000382552:L826P;ENSP00000382547:L826P;ENSP00000382506:L826P;ENSP00000382530:L826P;ENSP00000382546:L826P;ENSP00000382500:L826P;ENSP00000382549:L826P;ENSP00000266376:L826P;ENSP00000382515:L826P;ENSP00000382510:L826P;ENSP00000341092:L826P;ENSP00000382537:L826P;ENSP00000329877:L826P;ENSP00000382557:L826P;ENSP00000385724:L826P;ENSP00000382512:L826P;ENSP00000382542:L826P;ENSP00000382526:L826P;ENSP00000385896:L826P;ENSP00000382504:L826P	ENSP00000323129:L667P	L	+	2	0	CACNA1C	2565278	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.834000	0.27518	2.168000	0.68352	0.533000	0.62120	CTC	CACNA1C	-	prints_VDCC_L_a1csu	ENSG00000151067		0.507	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0	62	0	T	NM_000719		2695017	1			no_errors	ENST00000399634	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	C	C	2695017	T	C	2695017	3	2	179	1	0	0	0	0	1	0	0	0	2547	1551	54	4	2655	4	CACNA1C	12	2695017	Missense_Mutation	SNP	T	TCGA-XP-A8T7-01A-11D-A36J-09		2695017	131156878	143	44578											
C1RL	51279	genome.wustl.edu	37	chr12	7254578	7254578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgcggaaggtcagccGcaaactcctccctgaggata	9	8	12	12	2	1	1	1	1	0	0	3	3	3	3	3	3	3	1	3	3	3	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:7254578G>A	ENST00000266542.4	-	3	498	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	C1RL_ENST00000545337.1_Missense_Mutation_p.R136W|C1RL_ENST00000544702.1_Missense_Mutation_p.R136W|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	136	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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						AAGGTCAGCCGCAAACTCCTC	0.607													G|||	1	0.000199681	0	0	5008	,	,		-128	0		0	False		,,,				2504	0.001																0													113	105	108					12																	7254578		2203	4300	6503	SO:0001583	missense	0			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.406C>T	12.37:g.7254578G>A	ENSP00000266542:p.Arg136Trp		Q53GX9	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R136W	ENST00000266542.4	37	c.406	CCDS8573.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.86|15.86	2.958485|2.958485	0.53400|0.53400	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.28895	.|1.59;1.59;1.59;1.59	3.76|3.76	2.83|2.83	0.33086|0.33086	.|CUB (5);	.|0.572616	.|0.14831	.|N	.|0.295867	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.36672|0.36672	1.1|1.1	0.30578|0.30578	N|N	0.762843|0.762843	.|D;D;B	.|0.89917	.|1.0;1.0;0.085	.|D;D;B	.|0.74674	.|0.984;0.932;0.042	T|T	0.34950|0.34950	-0.9808|-0.9808	5|10	.|0.72032	.|D	.|0.01	.|.	8.4735|8.4735	0.32999|0.32999	0.0:0.0:0.7683:0.2317|0.0:0.0:0.7683:0.2317	.|.	.|136;136;136	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	V|W	35|136	.|ENSP00000266542:R136W;ENSP00000441885:R136W;ENSP00000437398:R136W;ENSP00000442611:R136W	.|ENSP00000266542:R136W	A|R	-|-	2|1	0|2	C1RL|C1RL	7145854|7145854	0.008000|0.008000	0.16893|0.16893	0.643000|0.643000	0.29450|0.29450	0.916000|0.916000	0.54674|0.54674	0.914000|0.914000	0.28624|0.28624	1.112000|1.112000	0.41740|0.41740	0.462000|0.462000	0.41574|0.41574	GCG|CGG	C1RL	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000139178		0.607	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL	HGNC	protein_coding	OTTHUMT00000398367.1	-	0	39	0	G	NM_016546		7254578	-1	tier1	-	no_errors	ENST00000266542	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.685	A	A	7254578	G	A	7254578	3	1	179	1	0	0	0	0	1	0	0	0	1980	1086	38	1	1073	1	C1RL	12	7254578	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	4559561	7254578	126597317	144	44579											
PRB1	5542	genome.wustl.edu	37	chr12	11506233	11506233	+	Silent	SNP	G	G	T	0	0	1	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	cgggcactttgggacttgctGcctccttgtgcgggtggtcc	2	12	15	12	2	0	0	0	0	0	0	2	1	2	1	3	4	3	2	3	4	0	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:11506233G>T	ENST00000500254.2	-	4	442	c.405C>A	c.(403-405)ggC>ggA	p.G135G	PRB1_ENST00000545626.1_Silent_p.G115G|PRB1_ENST00000546254.1_Silent_p.G135G	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			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)			GGGACTTGCTGCCTCCTTGTG	0.597																																																	0													196	237	223					12																	11506233		2152	4276	6428	SO:0001819	synonymous_variant	0				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.405C>A	12.37:g.11506233G>T			Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	NULL	p.G135	ENST00000500254.2	37	c.405	CCDS8642.1	12																																																																																			PRB1	-	NULL	ENSG00000251655		0.597	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB1	HGNC	protein_coding	OTTHUMT00000402312.1		0	57	0	G	NM_005039		11506233	-1			no_errors	ENST00000500254	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.000	T	T	11506233	G	T	11506233	2	4	179	1	0	0	0	0	0	0	0	1	12484	1306	46	3		3	PRB1	12	11506233	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	4251655	11506233	122345662	145	44580											
TSPAN11	441631	genome.wustl.edu	37	chr12	31106947	31106947	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcccactataagactgagCaggacgactggctgatcatc	11	8	11	11	1	1	3	1	2	0	1	2	5	1	4	1	3	1	2	1	3	2	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:31106947C>T	ENST00000261177.9	+	2	81	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	TSPAN11_ENST00000535215.1_Intron|TSPAN11_ENST00000545802.1_Nonsense_Mutation_p.Q8*|TSPAN11_ENST00000546076.1_Nonsense_Mutation_p.Q8*|TSPAN11_ENST00000544427.1_Intron	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	8						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)					TAAGACTGAGCAGGACGACTG	0.512																																																	0													224	170	188					12																	31106947		2203	4300	6503	SO:0001587	stop_gained	0				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.22C>T	12.37:g.31106947C>T	ENSP00000261177:p.Gln8*		A1L158|B2RUX6	Nonsense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.Q8*	ENST00000261177.9	37	c.22	CCDS31765.1	12	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865705	0.51588	.	.	ENSG00000110900	ENST00000545802;ENST00000546076;ENST00000261177	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0633	0.30646	0.242:0.7579:0.0:0.0	.	.	.	.	X	8	.	ENSP00000261177:Q8X	Q	+	1	0	TSPAN11	30998214	1.000000	0.71417	0.990000	0.47175	0.548000	0.35241	1.648000	0.37271	1.843000	0.53566	0.455000	0.32223	CAG	TSPAN11	-	NULL	ENSG00000110900		0.512	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TSPAN11	HGNC	protein_coding	OTTHUMT00000399888.1	-	0	39	0	C	XM_497334		31106947	1	tier1	-	no_errors	ENST00000261177	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	T	T	31106947	C	T	31106947	4	4	179	1	0	0	0	0	0	1	0	0	16683	711	25	3	24	3	TSPAN11	12	31106947	Nonsense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	19600714	31106947	102744948	146	44581											
SFRS2IP	9169	genome.wustl.edu	37	chr12	46321902	46321902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaaagtccagatatctGgtcttgcttttccaatggat	9	16	9	7	0	2	2	0	1	2	1	4	3	4	3	2	2	1	1	2	2	3	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:46321902G>T	ENST00000369367.3	-	11	1815	c.1582C>A	c.(1582-1584)Cag>Aag	p.Q528K	SCAF11_ENST00000549162.1_Missense_Mutation_p.Q336K|SCAF11_ENST00000419565.2_Missense_Mutation_p.Q528K|SCAF11_ENST00000465950.1_Missense_Mutation_p.Q213K	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	528					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						CCAGATATCTGGTCTTGCTTT	0.353																																																	0													107	99	102					12																	46321902		2203	4300	6503	SO:0001583	missense	0			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.1582C>A	12.37:g.46321902G>T	ENSP00000358374:p.Gln528Lys		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.Q528K	ENST00000369367.3	37	c.1582	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	G	0.329	-0.957396	0.02267	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.42513	1.55;2.3;1.55;2.3;0.97	5.97	3.87	0.44632	.	0.376195	0.25180	N	0.032527	T	0.29223	0.0727	L	0.31926	0.97	0.09310	N	1	B;B	0.19583	0.037;0.012	B;B	0.18561	0.022;0.007	T	0.14868	-1.0457	10	0.10111	T	0.7	-0.9035	12.5955	0.56468	0.0:0.0:0.5976:0.4024	.	336;528	F8VXG7;Q99590	.;SCAFB_HUMAN	K	213;528;336;528;468	ENSP00000449812:Q213K;ENSP00000358374:Q528K;ENSP00000448864:Q336K;ENSP00000413036:Q528K;ENSP00000446746:Q468K	ENSP00000358374:Q528K	Q	-	1	0	SCAF11	44608169	0.995000	0.38212	0.629000	0.29254	0.156000	0.22039	1.131000	0.31406	1.359000	0.45940	0.655000	0.94253	CAG	SCAF11	-	NULL	ENSG00000139218		0.353	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	-	0	59	0	G	NM_004719		46321902	-1	tier1	-	no_errors	ENST00000369367	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.370	T	T	46321902	G	T	46321902	3	4	179	1	0	0	0	0	1	0	0	0	14222	1357	47	3	2829	3	SFRS2IP	12	46321902	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	15214955	46321902	87529993	147	44582											
MLL2	8085	genome.wustl.edu	37	chr12	49432409	49432412	+	Frame_Shift_Del	DEL	ACTT	ACTT	-																															gccagtcggtgggggtcctcActtacagggtaaaaacgggg																								rs370382626		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	ACTT	ACTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:49432409_49432412delACTT	ENST00000301067.7	-	34	8726_8729	c.8727_8730delAAGT	c.(8725-8730)gtaagtfs	p.VS2909fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2909	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)	p.S2910fs*32(2)|p.S2640fs*32(2)									GGGGGTCCTCACTTACAGGGTAAA	0.603																																																	4	Deletion - Frameshift(4)	haematopoietic_and_lymphoid_tissue(4)																																								SO:0001589	frameshift_variant	0			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.8727_8730delAAGT	12.37:g.49432409_49432412delACTT	ENSP00000301067:p.Val2909fs		O14687	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S2910fs	ENST00000301067.7	37	c.8730_8727	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.603	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0	35	0	ACTT			49432412	-1	tier1		no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_del	22.73	17	5	DEL	0.984:0.964:0.993:0.989	-	-	49432412	ACTT	-	49432409	7	5	179	1	0	1	0	1	0	0	0	0	9659	156	6	0	7967	0	MLL2	12	49432409	Frame_Shift_Del	DEL	ACTT	TCGA-XP-A8T7-01A-11D-A36J-09	3110507	49432409	84419486	148	44583											
SHMT2	6472	genome.wustl.edu	37	chr12	57627083	57627083	+	Frame_Shift_Del	DEL	C	C	-																															ttcccatccctgcaggggggCccccacaatcatgccattgc																										TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:57627083delC	ENST00000328923.3	+	8	1430	c.978delC	c.(976-978)ggcfs	p.G326fs	SHMT2_ENST00000393827.4_Frame_Shift_Del_p.G230fs|SHMT2_ENST00000449049.3_Frame_Shift_Del_p.G305fs|SHMT2_ENST00000414700.3_Frame_Shift_Del_p.G305fs|SHMT2_ENST00000557487.1_Frame_Shift_Del_p.G316fs|SHMT2_ENST00000553474.1_Frame_Shift_Del_p.G305fs	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	326					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)	TGCAGGGGGGCCCCCACAATC	0.587																																					Esophageal Squamous(150;1369 2416 49071 49364)												0													51	54	53					12																	57627083		2203	4300	6503	SO:0001589	frameshift_variant	0			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.978delC	12.37:g.57627083delC	ENSP00000333667:p.Gly326fs		B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Frame_Shift_Del	DEL	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	p.H328fs	ENST00000328923.3	37	c.978	CCDS8934.1	12																																																																																			SHMT2	-	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	ENSG00000182199		0.587	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT2	HGNC	protein_coding	OTTHUMT00000412525.2		0	45	0	C	NM_005412		57627083	1	tier1		no_errors	ENST00000328923	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.249	-	-	57627083	C	-	57627083	7	5	179	1	0	1	0	1	0	0	0	0	14331	726	26	0	1008	0	SHMT2	12	57627083	Frame_Shift_Del	DEL	C	TCGA-XP-A8T7-01A-11D-A36J-09	8194674	57627083	76224812	149	44584											
FGD6	55785	genome.wustl.edu	37	chr12	95603210	95603210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtagagtctttgcaaGgcttagtgcacttttccaca	8	16	8	9	0	2	1	0	0	2	1	3	1	3	1	1	1	2	4	1	1	3	6	rs199982838		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:95603210G>T	ENST00000343958.4	-	2	2073	c.1850C>A	c.(1849-1851)cCt>cAt	p.P617H	FGD6_ENST00000546711.1_Missense_Mutation_p.P617H|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.P617H	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	617					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTCTTTGCAAGGCTTAGTGCA	0.408																																																	0													108	107	108					12																	95603210		2203	4300	6503	SO:0001583	missense	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1850C>A	12.37:g.95603210G>T	ENSP00000344446:p.Pro617His		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.P617H	ENST00000343958.4	37	c.1850	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188241	0.57909	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.71461	-0.47;-0.57;-0.53	6.04	6.04	0.98038	.	0.000000	0.48767	D	0.000179	T	0.81964	0.4934	M	0.64997	1.995	0.38185	D	0.939731	D	0.89917	1.0	D	0.73380	0.98	D	0.84236	0.0469	10	0.87932	D	0	-16.0738	15.3129	0.74048	0.0:0.0:0.8602:0.1398	.	617	Q6ZV73	FGD6_HUMAN	H	617	ENSP00000344446:P617H;ENSP00000450342:P617H;ENSP00000449005:P617H	ENSP00000344446:P617H	P	-	2	0	FGD6	94127341	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.343000	0.52167	2.873000	0.98535	0.561000	0.74099	CCT	FGD6	-	NULL	ENSG00000180263		0.408	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1		0	29	0	G	NM_018351		95603210	-1			no_errors	ENST00000343958	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	95603210	G	T	95603210	3	4	179	1	0	0	0	0	1	0	0	0	5859	1000	35	3	2522	3	FGD6	12	95603210	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	37976127	95603210	38248685	150	44585											
BTBD11	121551	genome.wustl.edu	37	chr12	108011212	108011212	+	Splice_Site	SNP	A	A	G	1	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	aggctgcagcccacggacacAggtaggctaggatgggccaa	11	4	15	11	1	0	0	0	0	0	0	0	2	0	2	2	6	2	4	2	6	3	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:108011212A>G	ENST00000280758.5	+	9	2758	c.2230A>G	c.(2230-2232)Agg>Ggg	p.R744G	BTBD11_ENST00000357167.4_Splice_Site_p.R281G|BTBD11_ENST00000420571.2_Intron|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Splice_Site_p.R744G	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	744						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						CCACGGACACAGGTAGGCTAG	0.542																																																	0													50	51	51					12																	108011212		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2231+1A>G	12.37:g.108011212A>G			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.R744G	ENST00000280758.5	37	c.2230	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853394	0.91355	.	.	ENSG00000151136	ENST00000280758;ENST00000490090;ENST00000357167	T;T;T	0.52983	0.64;0.64;0.64	5.63	5.63	0.86233	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	L	0.31476	0.935	0.80722	D	1	D;D;D	0.89917	0.991;0.991;1.0	D;D;D	0.78314	0.991;0.991;0.977	T	0.62515	-0.6838	10	0.87932	D	0	.	15.8448	0.78879	1.0:0.0:0.0:0.0	.	281;744;744	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	G	744;744;281	ENSP00000280758:R744G;ENSP00000447319:R744G;ENSP00000349690:R281G	ENSP00000280758:R744G	R	+	1	2	BTBD11	106535342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.148000	0.66965	0.533000	0.62120	AGG	BTBD11	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000151136		0.542	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	-	0	38	0	A	NM_152322	Missense_Mutation	108011212	1	tier1	-	no_errors	ENST00000280758	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	G	G	108011212	A	G	108011212	5	3	179	1	0	0	0	0	0	0	1	0	1543	202	7	4	2369	4	BTBD11	12	108011212	Splice_Site	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09	12408002	108011212	25840683	151	44586											
NOC4L	79050	genome.wustl.edu	37	chr12	132635841	132635842	+	Frame_Shift_Ins	INS	-	-	G																															cggaagctctacggcctcttINSggacccctctgtctttcacg																										TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr12:132635841_132635842insG	ENST00000330579.1	+	11	1042_1043	c.1001_1002insG	c.(1000-1005)ttggacfs	p.D335fs	NOC4L_ENST00000538784.1_5'UTR|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	335					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)		TACGGCCTCTTGGACCCCTCTG	0.649																																																	0																																										SO:0001589	frameshift_variant	0				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.1003dupG	12.37:g.132635843_132635843dupG	ENSP00000328854:p.Asp335fs		Q8N2S5|Q96I14	Frame_Shift_Ins	INS	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.D335fs	ENST00000330579.1	37	c.1001_1002	CCDS9277.1	12																																																																																			NOC4L	-	pfam_CCAAT-binding_factor	ENSG00000184967		0.649	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC4L	HGNC	protein_coding	OTTHUMT00000398999.1		0	94	0	-	NM_024078		132635842	1	tier1		no_errors	ENST00000330579	ensembl	human	known	74_37	frame_shift_ins	20.73	65	17	INS	0.980:0.980	G	G	132635842	-	G	132635841	7	5	179	1	0	1	1	0	0	0	0	0	10554	1821	63	0	1043	0	NOC4L	12	132635841	Frame_Shift_Ins	INS	-	TCGA-XP-A8T7-01A-11D-A36J-09	24624629	132635841	1216054	152	44587											
TNFRSF19	55504	genome.wustl.edu	37	chr13	24242195	24242195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgactcttggttgtggggtGcattctgcagccagtcttca	5	13	13	10	1	4	0	1	0	3	0	4	1	4	0	1	3	3	3	1	3	0	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr13:24242195G>A	ENST00000382258.4	+	8	1017	c.813G>A	c.(811-813)gtG>gtA	p.V271V	TNFRSF19_ENST00000403372.2_Silent_p.V139V|TNFRSF19_ENST00000248484.4_Silent_p.V271V|TNFRSF19_ENST00000382263.3_Silent_p.V271V	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	271					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTTGTGGGGTGCATTCTGCAG	0.522																																																	0													54	47	49					13																	24242195		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.813G>A	13.37:g.24242195G>A			A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19	p.V271	ENST00000382258.4	37	c.813	CCDS9302.1	13																																																																																			TNFRSF19	-	NULL	ENSG00000127863		0.522	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	TNFRSF19	HGNC	protein_coding	OTTHUMT00000044156.2	-	0	31	0	G	NM_018647		24242195	1	tier1	-	no_errors	ENST00000382258	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.882	A	A	24242195	G	A	24242195	2	1	179	1	0	0	0	0	0	0	0	1	16339	1306	46	3		3	TNFRSF19	13	24242195	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09		24242195	90927683	153	44588											
TNFSF11	8600	genome.wustl.edu	37	chr13	43148538	43148538	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccccctgcacgccccGccgccgcctgcgccgcacca	4	2	12	23	6	0	0	0	0	0	0	0	1	0	0	9	1	2	2	9	1	0	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr13:43148538G>A	ENST00000239849.6	+	1	250	c.99G>A	c.(97-99)ccG>ccA	p.P33P	TNFSF11_ENST00000398795.2_5'UTR|TNFSF11_ENST00000405262.2_Intron|TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000544862.1_Intron			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	33					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|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 homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	TGCACGCCCCGCCGCCGCCTG	0.756																																																	0													3	4	4					13																	43148538		1739	3585	5324	SO:0001819	synonymous_variant	0			AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.99G>A	13.37:g.43148538G>A			O14723|Q96Q17|Q9P2Q3	Silent	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom	p.P33	ENST00000239849.6	37	c.99	CCDS9384.1	13																																																																																			TNFSF11	-	pirsf_TNF_ligand_10/11	ENSG00000120659		0.756	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF11	HGNC	protein_coding	OTTHUMT00000044702.2	-	0	12	0	G			43148538	1	tier1	-	no_errors	ENST00000239849	ensembl	human	known	74_37	silent	34.48	19	10	SNP	0.887	A	A	43148538	G	A	43148538	2	1	179	1	0	0	0	0	0	0	0	1	16349	1074	38	1		1	TNFSF11	13	43148538	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	18906343	43148538	72021340	154	44589											
MYCBP2	23077	genome.wustl.edu	37	chr13	77739514	77739514	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcagtctccaatgaaaaaAgggcctcatttcctaataaa	16	10	6	9	0	2	1	1	1	1	0	4	1	3	1	3	1	1	1	3	1	7	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr13:77739514A>T	ENST00000544440.2	-	42	6256	c.6239T>A	c.(6238-6240)cTt>cAt	p.L2080H	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L2118H|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L2080H					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)		CAATGAAAAAAGGGCCTCATT	0.323																																																	0													102	109	107					13																	77739514		2202	4299	6501	SO:0001583	missense	0			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.6239T>A	13.37:g.77739514A>T	ENSP00000444596:p.Leu2080His			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L2118H	ENST00000544440.2	37	c.6353		13	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190081	0.78789	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30714	1.53;1.52;1.53	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.30510	0.0767	L	0.29908	0.895	0.58432	D	0.999998	D	0.56287	0.975	P	0.48368	0.575	T	0.02345	-1.1173	10	0.31617	T	0.26	.	15.5001	0.75691	1.0:0.0:0.0:0.0	.	2080	O75592	MYCB2_HUMAN	H	2080;2118;2080	ENSP00000349892:L2080H;ENSP00000384288:L2118H;ENSP00000444596:L2080H	ENSP00000349892:L2080H	L	-	2	0	MYCBP2	76637515	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.339000	0.96797	2.058000	0.61347	0.477000	0.44152	CTT	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.323	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	45	0	A	NM_015057		77739514	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	34.92	41	22	SNP	1.000	T	T	77739514	A	T	77739514	3	4	179	1	0	0	0	0	1	0	0	0	10056	72	3	5	7851	5	MYCBP2	13	77739514	Missense_Mutation	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09	34590976	77739514	37430364	155	44590											
TGDS	23483	genome.wustl.edu	37	chr13	95229646	95229647	+	Frame_Shift_Ins	INS	-	-	A																															atcattaacataatcaacccINSaattttccatttcagactct																										TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr13:95229646_95229647insA	ENST00000261296.5	-	10	982_983	c.862_863insT	c.(862-864)tggfs	p.W288fs	TGDS_ENST00000498294.1_5'Flank	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	288					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATAATCAACCCAATTTTCCATT	0.302																																																	0																																										SO:0001589	frameshift_variant	0			AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	20324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 2E, member 1"					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.863dupT	13.37:g.95229648_95229648dupA	ENSP00000261296:p.Trp288fs		Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Frame_Shift_Ins	INS	pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd	p.W288fs	ENST00000261296.5	37	c.863_862	CCDS9471.1	13																																																																																			TGDS	-	pfam_dTDP_dehydrorham_reduct	ENSG00000088451		0.302	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGDS	HGNC	protein_coding	OTTHUMT00000106904.2		0	81	0	-	NM_014305		95229647	-1	tier1		no_errors	ENST00000261296	ensembl	human	known	74_37	frame_shift_ins	30.53	66	29	INS	1.000:1.000	A	A	95229647	-	A	95229646	7	5	179	1	0	1	1	0	0	0	0	0	15861	595	21	0	201	0	TGDS	13	95229646	Frame_Shift_Ins	INS	-	TCGA-XP-A8T7-01A-11D-A36J-09	17490132	95229646	19940232	156	44591											
OR4K15	81127	genome.wustl.edu	37	chr14	20444596	20444596	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatcttcacgcttattttaAaccctgtaatctacacgcta	11	14	3	13	2	3	0	1	0	2	0	3	0	3	0	2	0	2	3	2	0	6	7			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:20444596A>G	ENST00000305051.5	+	1	994	c.919A>G	c.(919-921)Aac>Gac	p.N307D		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTTATTTTAAACCCTGTAAT	0.408																																																	0													102	102	102					14																	20444596		2203	4300	6503	SO:0001583	missense	0				CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.919A>G	14.37:g.20444596A>G	ENSP00000304077:p.Asn307Asp		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N307D	ENST00000305051.5	37	c.919	CCDS32026.1	14	.	.	.	.	.	.	.	.	.	.	.	16.65	3.180888	0.57800	.	.	ENSG00000169488	ENST00000305051	T	0.56444	0.46	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.66247	0.2770	L	0.60845	1.875	0.40691	D	0.982393	D	0.89917	1.0	D	0.97110	1.0	T	0.70185	-0.4941	10	0.87932	D	0	.	10.8799	0.46933	1.0:0.0:0.0:0.0	.	307	Q8NH41	OR4KF_HUMAN	D	307	ENSP00000304077:N307D	ENSP00000304077:N307D	N	+	1	0	OR4K15	19514436	1.000000	0.71417	0.998000	0.56505	0.412000	0.31113	8.195000	0.89723	1.665000	0.50811	0.482000	0.46254	AAC	OR4K15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000169488		0.408	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K15	HGNC	protein_coding	OTTHUMT00000409883.1		0	19	0	A			20444596	1			no_errors	ENST00000305051	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.998	G	G	20444596	A	G	20444596	3	3	179	1	0	0	0	0	1	0	0	0	11109	14	1	4	921	4	OR4K15	14	20444596	Missense_Mutation	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09		20444596	86904944	157	44592											
METT11D1	64745	genome.wustl.edu	37	chr14	21462709	21462709	+	Silent	SNP	A	A	T	1	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	cttttctccacaggtggttcAgaatctggggagccttatat	8	14	10	9	0	3	1	1	0	2	1	4	2	3	2	2	4	1	1	2	4	3	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:21462709A>T	ENST00000339374.6	+	8	938	c.705A>T	c.(703-705)tcA>tcT	p.S235S	METTL17_ENST00000382985.4_Silent_p.S235S|METTL17_ENST00000556670.2_Silent_p.S235S|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	235					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CAGGTGGTTCAGAATCTGGGG	0.418																																																	0													151	156	154					14																	21462709		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.705A>T	14.37:g.21462709A>T			Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11	p.S235	ENST00000339374.6	37	c.705	CCDS9562.1	14																																																																																			METTL17	-	pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11	ENSG00000165792		0.418	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL17	HGNC	protein_coding	OTTHUMT00000073804.4	-	0	35	0	A	NM_022734		21462709	1	tier1	-	no_errors	ENST00000382985	ensembl	human	known	74_37	silent	62.50	21	35	SNP	1.000	T	T	21462709	A	T	21462709	2	4	179	1	0	0	0	0	0	0	0	1	9529	175	7	5		5	METT11D1	14	21462709	Silent	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09	1018113	21462709	85886831	158	44593											
LRFN5	145581	genome.wustl.edu	37	chr14	42357161	42357161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaatatccctggaataCgtatgtttcaaatccagtac	16	11	6	8	1	1	1	1	0	0	1	3	2	3	2	2	1	2	3	2	1	8	5	rs548468008		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:42357161C>T	ENST00000298119.4	+	3	2522	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C	LRFN5_ENST00000554120.1_Missense_Mutation_p.R445C|LRFN5_ENST00000554171.1_Missense_Mutation_p.R445C	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	445	Fibronectin type-III.					integral component of membrane (GO:0016021)		p.R445C(1)		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)		CCCTGGAATACGTATGTTTCA	0.333										HNSCC(30;0.082)																																							1	Substitution - Missense(1)	ovary(1)											40	40	40					14																	42357161		2203	4299	6502	SO:0001583	missense	0			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.1333C>T	14.37:g.42357161C>T	ENSP00000298119:p.Arg445Cys		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R445C	ENST00000298119.4	37	c.1333	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690969	0.48097	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.69561	-0.41;0.55;0.54	5.4	5.4	0.78164	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000021	T	0.79805	0.4509	M	0.70595	2.14	0.80722	D	1	D;P	0.69078	0.997;0.8	D;B	0.63033	0.91;0.188	T	0.81382	-0.0958	10	0.66056	D	0.02	.	17.0338	0.86468	0.0:1.0:0.0:0.0	.	445;445	G3V364;Q96NI6	.;LRFN5_HUMAN	C	445	ENSP00000298119:R445C;ENSP00000451897:R445C;ENSP00000451067:R445C	ENSP00000298119:R445C	R	+	1	0	LRFN5	41426911	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.965000	0.56788	2.680000	0.91292	0.563000	0.77884	CGT	LRFN5	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000165379		0.333	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0	56	0	C	NM_152447		42357161	1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	71.43	10	25	SNP	1.000	T	T	42357161	C	T	42357161	3	4	179	1	0	0	0	0	1	0	0	0	8976	536	19	1	1335	1	LRFN5	14	42357161	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	20894452	42357161	64992379	159	44594											
SPTB	6710	genome.wustl.edu	37	chr14	65233375	65233375	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccacctgggctgagcCtagtaggggtgagagggctc	6	7	16	12	1	0	2	0	2	0	1	2	3	1	2	4	4	1	3	4	4	2	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:65233375C>A	ENST00000389721.5	-	31	6446	c.6414G>T	c.(6412-6414)taG>taT	p.*2138Y	SPTB_ENST00000556626.1_Intron|SPTB_ENST00000389722.3_Intron|SPTB_ENST00000542895.1_Nonstop_Mutation_p.*2138Y|SPTB_ENST00000342835.4_5'Flank	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					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)		TGGGCTGAGCCTAGTAGGGGT	0.652																																																	0													84	82	83					14																	65233375		2203	4300	6503	SO:0001578	stop_lost	0				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.6414G>T	14.37:g.65233375C>A			Q15510|Q15519	Nonstop_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pirsf_Spectrin_bsu,pfscan_CH-domain	p.*2138Y	ENST00000389721.5	37	c.6414	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526670	0.64860	.	.	ENSG00000070182	ENST00000389721;ENST00000542895	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8359	0.57773	0.0:1.0:0.0:0.0	.	.	.	.	Y	2138	.	.	X	-	3	2	SPTB	64303128	1.000000	0.71417	0.996000	0.52242	0.345000	0.29048	0.922000	0.28734	2.483000	0.83821	0.455000	0.32223	TAG	SPTB	-	NULL	ENSG00000070182		0.652	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1		0	24	0	C			65233375	-1			no_errors	ENST00000389721	ensembl	human	known	74_37	nonstop	10.53	34	4	SNP	1.000	A	A	65233375	C	A	65233375	4	1	179	1	0	0	0	0	0	0	0	0	15165	692	24	3	661	3	SPTB	14	65233375	Nonstop_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	22876214	65233375	42116165	160	44595											
EIF2S1	1965	genome.wustl.edu	37	chr14	67850093	67850093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatggagaggcttgaaaGagaaaatgccgaagtggatg	15	6	16	4	1	0	4	0	1	0	3	0	8	0	5	1	3	1	2	1	3	4	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:67850093G>T	ENST00000256383.4	+	8	1345	c.884G>T	c.(883-885)aGa>aTa	p.R295I	EIF2S1_ENST00000466499.2_Missense_Mutation_p.R295I	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	295					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		AGGCTTGAAAGAGAAAATGCC	0.428																																																	0													89	79	83					14																	67850093		2203	4300	6503	SO:0001583	missense	0			J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.884G>T	14.37:g.67850093G>T	ENSP00000256383:p.Arg295Ile			Missense_Mutation	SNP	pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R295I	ENST00000256383.4	37	c.884	CCDS9781.1	14	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389037	0.61956	.	.	ENSG00000134001	ENST00000256383;ENST00000466499	.	.	.	6.16	6.16	0.99307	Translation initiation factor 2, alpha subunit, C-terminal (2);	0.049107	0.85682	D	0.000000	T	0.49304	0.1549	L	0.45470	1.425	0.80722	D	1	B	0.32753	0.383	B	0.27608	0.081	T	0.43426	-0.9392	9	0.34782	T	0.22	-15.012	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	295	P05198	IF2A_HUMAN	I	295	.	ENSP00000256383:R295I	R	+	2	0	EIF2S1	66919846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.872000	0.75536	2.937000	0.99478	0.650000	0.86243	AGA	EIF2S1	-	superfamily_TIF2_asu_C	ENSG00000134001		0.428	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S1	HGNC	protein_coding	OTTHUMT00000074342.3	-	0	81	0	G	NM_004094		67850093	1	tier1	-	no_errors	ENST00000256383	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	67850093	G	T	67850093	3	4	179	1	0	0	0	0	1	0	0	0	5023	942	33	3	910	3	EIF2S1	14	67850093	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	2616718	67850093	39499447	161	44596											
C14orf148	122945	genome.wustl.edu	37	chr14	77873059	77873059	+	Intron	SNP	G	G	T	0	0	1	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	gaatgccagaaatatgttgaGccgtgaccagcaggactgta	13	8	12	8	1	0	3	0	2	0	1	0	5	0	4	3	1	3	3	3	1	4	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:77873059G>T	ENST00000380835.2	-	4	849				NOXRED1_ENST00000298358.3_Silent_p.G230G	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1						proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AATATGTTGAGCCGTGACCAG	0.458																																																	0													110	91	97					14																	77873059		2203	4300	6503	SO:0001627	intron_variant	0			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.682+7C>A	14.37:g.77873059G>T			B3KQ47|O95435	Silent	SNP	NULL	p.G230	ENST00000380835.2	37	c.690	CCDS45142.1	14																																																																																			NOXRED1	-	NULL	ENSG00000165555		0.458	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOXRED1	HGNC	protein_coding	OTTHUMT00000414103.1	-	0	66	0	G	NM_138791		77873059	-1	tier1	-	no_errors	ENST00000298358	ensembl	human	known	74_37	silent	64.52	22	40	SNP	0.000	T	T	77873059	G	T	77873059	1	4	179	0	1	0	0	0	0	0	0	0	1756	958	34	3		3	C14orf148	14	77873059	Intron	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	10022966	77873059	29476481	162	44597											
TSHR	7253	genome.wustl.edu	37	chr14	81610253	81610253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ccgcagtacaacccaggggaCaaagataccaaaattgccaa	17	4	8	12	1	0	1	0	0	0	1	0	2	0	2	4	2	4	2	4	2	7	3	rs367866466		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:81610253C>A	ENST00000541158.2	+	11	2173	c.1851C>A	c.(1849-1851)gaC>gaA	p.D617E	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.D617E			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	617					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)	p.Y613_K621del(1)		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)	ACCCAGGGGACAAAGATACCA	0.453			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	1	Deletion - In frame(1)	thyroid(1)						C	GLU/ASP	0,4406		0,0,2203	208	187	194		1851	1.5	1	14		194	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSHR	NM_000369.2	45	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	617/765	81610253	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1851C>A	14.37:g.81610253C>A	ENSP00000441235:p.Asp617Glu		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.D617E	ENST00000541158.2	37	c.1851	CCDS9872.1	14	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166754	0.57476	0.0	1.16E-4	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.36340	1.26;1.26	5.37	1.45	0.22620	.	0.195144	0.53938	N	0.000051	T	0.28732	0.0712	N	0.25201	0.72	0.37448	D	0.914695	P	0.45348	0.856	P	0.49276	0.605	T	0.15607	-1.0431	10	0.66056	D	0.02	.	6.3658	0.21453	0.0:0.6319:0.1432:0.2249	.	617	F5GYU5	.	E	617;264;617	ENSP00000441235:D617E;ENSP00000298171:D617E	ENSP00000298171:D617E	D	+	3	2	TSHR	80680006	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	1.555000	0.36277	-0.004000	0.14419	-0.311000	0.09066	GAC	TSHR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000165409		0.453	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1		0	27	0	C	NM_000369		81610253	1			no_errors	ENST00000298171	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	81610253	C	A	81610253	3	1	179	1	0	0	0	0	1	0	0	0	16670	477	17	3	2026	3	TSHR	14	81610253	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	3737194	81610253	25739287	163	44598											
C14orf49	161176	genome.wustl.edu	37	chr14	95905383	95905383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcacgcgtcgacgatgcCtgggaataggatccatggga	10	7	14	10	4	1	0	1	0	0	0	3	6	2	3	2	3	1	0	2	3	2	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr14:95905383C>T	ENST00000334258.5	-	13	2377	c.2363G>A	c.(2362-2364)aGg>aAg	p.R788K	SYNE3_ENST00000557275.1_Missense_Mutation_p.R788K|SYNE3_ENST00000554873.1_Missense_Mutation_p.R545K	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	788					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						TCGACGATGCCTGGGAATAGG	0.562																																																	0													224	201	209					14																	95905383		2203	4300	6503	SO:0001583	missense	0			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.2363G>A	14.37:g.95905383C>T	ENSP00000334308:p.Arg788Lys		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.R788K	ENST00000334258.5	37	c.2363	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407230	0.42715	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.14022	3.56;2.54;3.57	5.25	5.25	0.73442	.	0.147330	0.31177	N	0.008108	T	0.14657	0.0354	L	0.55103	1.725	0.80722	D	1	B;B	0.25850	0.136;0.084	B;B	0.23419	0.046;0.021	T	0.06023	-1.0850	10	0.12430	T	0.62	-14.2532	15.7802	0.78255	0.0:1.0:0.0:0.0	.	788;788	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	K	788;545;788	ENSP00000334308:R788K;ENSP00000452154:R545K;ENSP00000450562:R788K	ENSP00000334308:R788K	R	-	2	0	C14orf49	94975136	0.506000	0.26139	0.024000	0.17045	0.050000	0.14768	2.190000	0.42630	2.459000	0.83118	0.491000	0.48974	AGG	SYNE3	-	superfamily_Retrov_capsid_C	ENSG00000176438		0.562	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	-	0	60	0	C	NM_152592		95905383	-1	tier1	-	no_errors	ENST00000334258	ensembl	human	known	74_37	missense	27.69	47	18	SNP	0.068	T	T	95905383	C	T	95905383	3	4	179	1	0	0	0	0	1	0	0	0	1781	681	24	3	584	3	C14orf49	14	95905383	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	14295130	95905383	11444157	164	44599											
C15orf2	23742	genome.wustl.edu	37	chr15	24922699	24922699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgtcacaacaaacgcatCtgcccacctaacctcacaga	14	6	4	17	1	3	1	2	0	1	1	3	1	3	1	3	0	4	1	3	0	3	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:24922699C>T	ENST00000329468.2	+	1	2159	c.1685C>T	c.(1684-1686)tCt>tTt	p.S562F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	562					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ACAAACGCATCTGCCCACCTA	0.483																																																	0													155	142	146					15																	24922699		2203	4300	6503	SO:0001583	missense	0			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.1685C>T	15.37:g.24922699C>T	ENSP00000333735:p.Ser562Phe			Missense_Mutation	SNP	NULL	p.S562F	ENST00000329468.2	37	c.1685	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	11.16	1.558094	0.27827	.	.	ENSG00000185823	ENST00000329468	T	0.10573	2.86	1.82	-0.237	0.13061	.	0.219914	0.23487	N	0.047649	T	0.07052	0.0179	L	0.43923	1.385	0.09310	N	1	B	0.27594	0.182	B	0.23018	0.043	T	0.25012	-1.0144	10	0.39692	T	0.17	.	3.0403	0.06137	0.0:0.5213:0.29:0.1888	.	562	Q9NZP6	CO002_HUMAN	F	562	ENSP00000333735:S562F	ENSP00000333735:S562F	S	+	2	0	C15orf2	22473792	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.286000	0.18902	-0.052000	0.13311	0.205000	0.17691	TCT	NPAP1	-	NULL	ENSG00000185823		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	-	0	21	0	C	NM_018958		24922699	1	tier1	-	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.001	T	T	24922699	C	T	24922699	3	4	179	1	0	0	0	0	1	0	0	0	1789	913	32	3	1687	3	C15orf2	15	24922699	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09		24922699	77608693	165	44600											
HERC2	8924	genome.wustl.edu	37	chr15	28514546	28514546	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggcatagtatttccatcCtattaacccccaacctatga	12	13	4	12	0	0	1	0	1	0	0	2	1	2	1	5	1	2	2	5	1	6	7			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:28514546C>A	ENST00000261609.7	-	11	1402	c.1294G>T	c.(1294-1296)Gga>Tga	p.G432*		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)		TATTTCCATCCTATTAACCCC	0.433																																																	0													153	123	133					15																	28514546		2203	4300	6503	SO:0001587	stop_gained	0			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.1294G>T	15.37:g.28514546C>A	ENSP00000261609:p.Gly432*			Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.G432*	ENST00000261609.7	37	c.1294	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.589824	0.98378	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	X	432	.	ENSP00000261609:G432X	G	-	1	0	HERC2	26188141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.274000	0.78538	2.809000	0.96659	0.655000	0.94253	GGA	HERC2	-	superfamily_RCC1/BLIP-II	ENSG00000128731		0.433	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	35	0	C	NM_004667		28514546	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	A	A	28514546	C	A	28514546	4	1	179	1	0	0	0	0	0	1	0	0	7085	690	24	3	13542	3	HERC2	15	28514546	Nonsense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	3591847	28514546	74016846	166	44601											
TGM5	9333	genome.wustl.edu	37	chr15	43525493	43525493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ttgtccactcttgaaggggaCggtctccagaatgatgcttg	8	12	12	9	1	2	3	0	2	2	1	4	4	3	4	2	3	1	1	2	3	2	3	rs375024044		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:43525493C>T	ENST00000220420.5	-	13	2066	c.2059G>A	c.(2059-2061)Gtc>Atc	p.V687I	TGM5_ENST00000349114.4_Missense_Mutation_p.V605I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	687					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TTGAAGGGGACGGTCTCCAGA	0.438																																																	0								C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	177	149	159		1813,2059	2	1	15		159	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	TGM5	NM_004245.3,NM_201631.3	29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	605/639,687/721	43525493	1,13003	2203	4299	6502	SO:0001583	missense	0			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.2059G>A	15.37:g.43525493C>T	ENSP00000220420:p.Val687Ile		O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.V687I	ENST00000220420.5	37	c.2059	CCDS32212.1	15	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986790	0.35036	0.0	1.16E-4	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.68479	-0.33;-0.33	5.97	2.05	0.26809	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.457880	0.22609	N	0.057856	T	0.51736	0.1692	L	0.39397	1.21	0.27454	N	0.953343	B;B	0.15719	0.009;0.014	B;B	0.16722	0.005;0.016	T	0.35871	-0.9771	10	0.21014	T	0.42	-11.7206	8.0065	0.30327	0.0:0.6079:0.0:0.3921	.	605;687	O43548-2;O43548	.;TGM5_HUMAN	I	687;605;686	ENSP00000220420:V687I;ENSP00000220419:V605I	ENSP00000220420:V687I	V	-	1	0	TGM5	41312785	0.014000	0.17966	0.984000	0.44739	0.963000	0.63663	0.189000	0.17037	0.132000	0.18615	0.655000	0.94253	GTC	TGM5	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000104055		0.438	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	HGNC	protein_coding	OTTHUMT00000432257.1	-	0	44	0	C	NM_004245		43525493	-1	tier1	-	no_errors	ENST00000220420	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.986	T	T	43525493	C	T	43525493	3	4	179	1	0	0	0	0	1	0	0	0	15880	536	19	1	107	1	TGM5	15	43525493	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	15010947	43525493	59005899	167	44602											
ALDH1A2	8854	genome.wustl.edu	37	chr15	58284926	58284926	+	Missense_Mutation	SNP	T	T	G	0	1	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	agtagaccctgtgaatgcaaTcttgtctatgccaatgtgag	11	12	10	8	0	2	3	0	2	2	1	2	3	2	3	2	0	2	2	2	0	5	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:58284926T>G	ENST00000249750.4	-	7	1542	c.775A>C	c.(775-777)Att>Ctt	p.I259L	ALDH1A2_ENST00000347587.3_Intron|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.I238L|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.I230L|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.I163L	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	259					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	GTGAATGCAATCTTGTCTATG	0.458																																																	0													114	107	109					15																	58284926		2192	4292	6484	SO:0001583	missense	0			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.775A>C	15.37:g.58284926T>G	ENSP00000249750:p.Ile259Leu		B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.I259L	ENST00000249750.4	37	c.775	CCDS10163.1	15	.	.	.	.	.	.	.	.	.	.	T	15.20	2.763454	0.49574	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000537372	T;T	0.79352	-1.26;-1.26	5.65	3.31	0.37934	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.056260	0.64402	D	0.000001	T	0.65523	0.2699	L	0.28740	0.885	0.35851	D	0.826769	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.23275	0.02;0.012;0.045	T	0.67791	-0.5579	10	0.87932	D	0	.	8.1382	0.31067	0.0:0.2204:0.0:0.7796	.	230;238;259	B4DH89;F5H2Y9;O94788	.;.;AL1A2_HUMAN	L	259;163;230;238	ENSP00000249750:I259L;ENSP00000438296:I238L	ENSP00000249750:I259L	I	-	1	0	ALDH1A2	56072218	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.767000	0.47637	1.166000	0.42689	0.533000	0.62120	ATT	ALDH1A2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000128918		0.458	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A2	HGNC	protein_coding	OTTHUMT00000255869.1	-	0	29	0	T			58284926	-1	tier1	-	no_errors	ENST00000249750	ensembl	human	known	74_37	missense	16.42	56	11	SNP	1.000	G	G	58284926	T	G	58284926	3	3	179	1	0	0	0	0	1	0	0	0	491	1435	50	4	809	4	ALDH1A2	15	58284926	Missense_Mutation	SNP	T	TCGA-XP-A8T7-01A-11D-A36J-09	14759433	58284926	44246466	168	44603											
ITGA11	22801	genome.wustl.edu	37	chr15	68612554	68612554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggcaaactgcaggtttGctgactgcgagatatttagg	10	11	13	7	1	0	2	0	1	0	1	0	3	0	2	0	3	5	5	0	3	3	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:68612554G>A	ENST00000315757.7	-	20	2671	c.2585C>T	c.(2584-2586)gCa>gTa	p.A862V	ITGA11_ENST00000423218.2_Missense_Mutation_p.A862V	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	862					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						CTGCAGGTTTGCTGACTGCGA	0.582																																																	0													58	59	59					15																	68612554		2072	4206	6278	SO:0001583	missense	0			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.2585C>T	15.37:g.68612554G>A	ENSP00000327290:p.Ala862Val		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A862V	ENST00000315757.7	37	c.2585	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221755	0.39300	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.49139	0.79;0.79	5.41	3.41	0.39046	Integrin alpha-2 (1);	0.848433	0.10561	N	0.660238	T	0.27933	0.0688	N	0.08118	0	0.09310	N	1	B;B	0.22080	0.04;0.064	B;B	0.29440	0.102;0.049	T	0.24764	-1.0151	10	0.30854	T	0.27	.	6.5607	0.22485	0.0:0.2573:0.4687:0.274	.	862;862	A8K8T0;Q9UKX5	.;ITA11_HUMAN	V	862;862;497	ENSP00000327290:A862V;ENSP00000403392:A862V	ENSP00000327290:A862V	A	-	2	0	ITGA11	66399608	0.008000	0.16893	0.371000	0.25978	0.891000	0.51852	1.691000	0.37721	1.219000	0.43474	0.561000	0.74099	GCA	ITGA11	-	pfam_Integrin_alpha-2	ENSG00000137809		0.582	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		-	0	32	0	G	NM_012211		68612554	-1	tier1	-	no_errors	ENST00000315757	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.167	A	A	68612554	G	A	68612554	3	1	179	1	0	0	0	0	1	0	0	0	7901	1319	46	3	1025	3	ITGA11	15	68612554	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	10327628	68612554	33918838	169	44604											
ALPK3	57538	genome.wustl.edu	37	chr15	85400143	85400143	+	Missense_Mutation	SNP	A	A	T	1	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	agccatggaaggtcagtctgAgcaagaggtggcaaccagcc	12	5	14	10	0	2	2	1	1	1	1	2	3	2	3	3	4	4	2	3	4	3	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:85400143A>T	ENST00000258888.5	+	6	2947	c.2780A>T	c.(2779-2781)gAg>gTg	p.E927V		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	927					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)			GGTCAGTCTGAGCAAGAGGTG	0.577																																																	0													97	104	102					15																	85400143		2203	4299	6502	SO:0001583	missense	0			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.2780A>T	15.37:g.85400143A>T	ENSP00000258888:p.Glu927Val		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.E927V	ENST00000258888.5	37	c.2780	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965641	0.34659	.	.	ENSG00000136383	ENST00000258888	T	0.69306	-0.39	4.57	2.26	0.28386	.	5.286920	0.00941	U	0.002823	T	0.59689	0.2212	L	0.34521	1.04	0.09310	N	1	B	0.26512	0.151	B	0.31191	0.125	T	0.50882	-0.8775	10	0.87932	D	0	-5.3674	5.5464	0.17065	0.6765:0.0:0.3235:0.0	.	927	Q96L96	ALPK3_HUMAN	V	927	ENSP00000258888:E927V	ENSP00000258888:E927V	E	+	2	0	ALPK3	83201147	0.017000	0.18338	0.002000	0.10522	0.003000	0.03518	0.412000	0.21131	0.614000	0.30107	0.482000	0.46254	GAG	ALPK3	-	NULL	ENSG00000136383		0.577	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0	39	0	A	NM_020778		85400143	1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	35.42	31	17	SNP	0.003	T	T	85400143	A	T	85400143	3	4	179	1	0	0	0	0	1	0	0	0	546	304	11	5	2802	5	ALPK3	15	85400143	Missense_Mutation	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09	16787589	85400143	17131249	170	44605											
BLM	641	genome.wustl.edu	37	chr15	91341471	91341471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaagtattgtaagatttGttcaagaacatagttcatca	16	14	7	4	0	3	3	3	1	0	2	3	3	3	3	0	0	1	4	0	0	7	7			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:91341471G>T	ENST00000355112.3	+	17	3380	c.3262G>T	c.(3262-3264)Gtt>Ttt	p.V1088F	BLM_ENST00000560509.1_Missense_Mutation_p.V1088F|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1088					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)			TGTAAGATTTGTTCAAGAACA	0.318			"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													114	113	113					15																	91341471		2198	4297	6495	SO:0001583	missense	0	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.3262G>T	15.37:g.91341471G>T	ENSP00000347232:p.Val1088Phe		Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.V1088F	ENST00000355112.3	37	c.3262	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276500	0.59649	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.63417	-0.04	5.66	4.75	0.60458	RQC domain (2);	0.061154	0.64402	D	0.000004	T	0.81079	0.4748	M	0.89840	3.065	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.69479	0.952;0.964	D	0.84637	0.0693	10	0.87932	D	0	-0.0456	12.208	0.54363	0.0826:0.0:0.9174:0.0	.	1088;1088	B2RAN0;P54132	.;BLM_HUMAN	F	1088;718;275	ENSP00000347232:V1088F	ENSP00000347232:V1088F	V	+	1	0	BLM	89142475	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.435000	0.73412	1.401000	0.46761	0.585000	0.79938	GTT	BLM	-	pfam_RQC_domain,superfamily_P-loop_NTPase,smart_RQC_domain,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000197299		0.318	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	-	0	36	0	G			91341471	1	tier1	-	no_errors	ENST00000355112	ensembl	human	known	74_37	missense	21.21	52	14	SNP	1.000	T	T	91341471	G	T	91341471	3	4	179	1	0	0	0	0	1	0	0	0	1447	1377	48	3	3324	3	BLM	15	91341471	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	5941328	91341471	11189921	171	44606											
CHD2	1106	genome.wustl.edu	37	chr15	93540191	93540191	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactggtatttttcaggaaaAggaccagggaaaaggagagg	16	7	14	4	0	1	1	1	0	0	1	1	5	1	4	1	6	1	1	1	6	6	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr15:93540191A>G	ENST00000394196.4	+	29	4668	c.3600A>G	c.(3598-3600)aaA>aaG	p.K1200K	CHD2_ENST00000557381.1_Silent_p.K1200K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1200					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTTCAGGAAAAGGACCAGGGA	0.393																																																	0													74	70	71					15																	93540191		2197	4298	6495	SO:0001819	synonymous_variant	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3600A>G	15.37:g.93540191A>G			C6G482|Q96IP5	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K1200	ENST00000394196.4	37	c.3600	CCDS10374.2	15																																																																																			CHD2	-	NULL	ENSG00000173575		0.393	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	-	0	66	0	A	NM_001271		93540191	1	tier1	-	no_errors	ENST00000557381	ensembl	human	putative	74_37	silent	5.95	79	5	SNP	1.000	G	G	93540191	A	G	93540191	2	3	179	1	0	0	0	0	0	0	0	1	3332	69	3	4		4	CHD2	15	93540191	Silent	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09	2198720	93540191	8991201	172	44607											
GSPT1	2935	genome.wustl.edu	37	chr16	12009530	12009531	+	Intron	INS	-	-	CCG																															tgctgctgccgctgctgctcINSccgccgccgccgccgccgcc																								rs71408216|rs374901734		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:12009530_12009531insCCG	ENST00000420576.2	-	1	41				GSPT1_ENST00000439887.2_In_Frame_Ins_p.16_16G>GG|AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000434724.2_In_Frame_Ins_p.16_16G>GG	NM_001130007.1	NP_001123479.1	P15170	ERF3A_HUMAN	G1 to S phase transition 1						G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						cgctgctgctcccgccgccgcc	0.772																																																	0																																										SO:0001627	intron_variant	0			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000420576.2:c.61+367->CGG	16.37:g.12009537_12009539dupCCG			J3KQG6|Q96GF2	In_Frame_Ins	INS	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom	p.17in_frame_insG	ENST00000420576.2	37	c.48_47	CCDS45414.1	16																																																																																			GSPT1	-	NULL	ENSG00000103342		0.772	GSPT1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GSPT1	HGNC	protein_coding	OTTHUMT00000421514.1		0	8	0	-	NM_002094		12009531	-1	tier1		no_errors	ENST00000434724	ensembl	human	known	74_37	in_frame_ins	36.36	7	4	INS	0.678:0.684	CCG	CCG	12009531	-	CCG	12009530	6	5	179	0	1	1	1	0	0	0	0	0	6853	842	30	0		0	GSPT1	16	12009530	Intron	INS	-	TCGA-XP-A8T7-01A-11D-A36J-09		12009530	78345223	173	44608											
DNAH3	55567	genome.wustl.edu	37	chr16	20970694	20970694	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtctgtgttctggtacctcCcataccaagatcatcagcaa	10	11	8	12	0	4	1	2	0	2	1	5	1	5	1	3	2	3	3	3	2	4	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:20970694C>G	ENST00000261383.3	-	54	10632	c.10633G>C	c.(10633-10635)Gga>Cga	p.G3545R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3545	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)|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)		CTGGTACCTCCCATACCAAGA	0.498																																																	0													113	104	107					16																	20970694		2201	4300	6501	SO:0001583	missense	0			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.10633G>C	16.37:g.20970694C>G	ENSP00000261383:p.Gly3545Arg		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.G3545R	ENST00000261383.3	37	c.10633	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916577	0.73098	.	.	ENSG00000158486	ENST00000261383	T	0.07567	3.18	5.41	5.41	0.78517	Dynein heavy chain (1);	1.468830	0.03969	N	0.291356	T	0.39279	0.1072	M	0.82630	2.6	0.80722	D	1	D	0.69078	0.997	D	0.67900	0.954	T	0.02477	-1.1153	10	0.41790	T	0.15	.	19.2193	0.93790	0.0:1.0:0.0:0.0	.	3545	Q8TD57	DYH3_HUMAN	R	3545	ENSP00000261383:G3545R	ENSP00000261383:G3545R	G	-	1	0	DNAH3	20878195	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.524000	0.85096	0.655000	0.94253	GGA	DNAH3	-	pfam_Dynein_heavy_dom	ENSG00000158486		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	37	0	C	NM_017539		20970694	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	37.25	32	19	SNP	1.000	G	G	20970694	C	G	20970694	3	3	179	1	0	0	0	0	1	0	0	0	4617	632	22	5	1752	5	DNAH3	16	20970694	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	8961164	20970694	69384059	174	44609											
SCNN1B	6338	genome.wustl.edu	37	chr16	23360218	23360218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgtcaccatctgcaatGctagccccttcaagtaggtg	8	10	9	14	1	3	0	2	0	1	0	3	0	3	0	4	1	4	3	4	1	4	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:23360218G>T	ENST00000343070.2	+	2	474	c.298G>T	c.(298-300)Gct>Tct	p.A100S	SCNN1B_ENST00000568085.1_Missense_Mutation_p.A100S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.A100S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.A145S|SCNN1B_ENST00000569789.1_3'UTR	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	100					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)	CATCTGCAATGCTAGCCCCTT	0.562																																																	0													63	57	59					16																	23360218		2197	4300	6497	SO:0001583	missense	0			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.298G>T	16.37:g.23360218G>T	ENSP00000345751:p.Ala100Ser		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.A145S	ENST00000343070.2	37	c.433	CCDS10609.1	16	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287543	0.40494	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.62941	-0.01;-0.01	4.92	-1.47	0.08772	.	0.559260	0.17747	N	0.163366	T	0.30978	0.0782	N	0.02539	-0.55	0.27102	N	0.962608	B	0.16166	0.016	B	0.19666	0.026	T	0.22347	-1.0219	10	0.39692	T	0.17	-17.5688	8.3473	0.32281	0.0734:0.0:0.412:0.5146	.	100	P51168	SCNNB_HUMAN	S	100;145	ENSP00000345751:A100S;ENSP00000302874:A145S	ENSP00000302874:A145S	A	+	1	0	SCNN1B	23267719	0.859000	0.29813	0.868000	0.34077	0.993000	0.82548	1.123000	0.31308	-0.168000	0.10853	0.561000	0.74099	GCT	SCNN1B	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	ENSG00000168447		0.562	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1B	HGNC	protein_coding	OTTHUMT00000254495.2	-	0	18	0	G			23360218	1	tier1	-	no_errors	ENST00000307331	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.748	T	T	23360218	G	T	23360218	3	4	179	1	0	0	0	0	1	0	0	0	13973	1319	46	3	300	3	SCNN1B	16	23360218	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	2389524	23360218	66994535	175	44610											
CCDC135	84229	genome.wustl.edu	37	chr16	57732912	57732912	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgtgcccctcttcctgcaCcccctgaacgagtgtgaagt	6	9	10	16	3	1	2	0	2	1	0	2	3	2	2	5	0	3	1	5	0	2	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:57732912C>T	ENST00000360716.3	+	4	575	c.354C>T	c.(352-354)caC>caT	p.H118H	CCDC135_ENST00000394337.4_Silent_p.H118H|CCDC135_ENST00000336825.8_Silent_p.H118H|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		118					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.H118H(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						TCTTCCTGCACCCCCTGAACG	0.637																																																	1	Substitution - coding silent(1)	lung(1)											135	132	133					16																	57732912		2198	4300	6498	SO:0001819	synonymous_variant	0																														ENST00000360716.3:c.354C>T	16.37:g.57732912C>T			A8K943|Q8NAA0|Q9H080	Silent	SNP	NULL	p.H118	ENST00000360716.3	37	c.354	CCDS10787.1	16																																																																																			CCDC135	-	NULL	ENSG00000159625		0.637	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2		0	26	0	C			57732912	1			no_errors	ENST00000360716	ensembl	human	known	74_37	silent	7.14	26	2	SNP	1.000	T	T	57732912	C	T	57732912	2	4	179	1	0	0	0	0	0	0	0	1	2776	506	18	3		3	CCDC135	16	57732912	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	34372694	57732912	32621841	176	44611											
COG8	84342	genome.wustl.edu	37	chr16	69366677	69366677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagacagcgatttaaatacgGaacaaggtcttccaggaaga	16	7	11	7	2	1	2	0	0	1	2	2	6	2	4	1	3	3	0	1	3	6	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:69366677G>T	ENST00000306875.4	-	4	1636	c.1522C>A	c.(1522-1524)Ccg>Acg	p.P508T	PDF_ENST00000288022.1_5'Flank|RP11-343C2.12_ENST00000562949.1_Intron|COG8_ENST00000562081.1_Missense_Mutation_p.P508T	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	508					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TTTAAATACGGAACAAGGTCT	0.473																																																	0													115	112	113					16																	69366677		2198	4300	6498	SO:0001583	missense	0			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.1522C>A	16.37:g.69366677G>T	ENSP00000305459:p.Pro508Thr		Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant	p.P508T	ENST00000306875.4	37	c.1522	CCDS10876.1	16	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870179	0.91587	.	.	ENSG00000213380	ENST00000306875	T	0.62639	0.01	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.84089	0.0389	10	0.59425	D	0.04	0.7941	19.8933	0.96939	0.0:0.0:1.0:0.0	.	535;508	B4DYU2;Q96MW5	.;COG8_HUMAN	T	508	ENSP00000305459:P508T	ENSP00000305459:P508T	P	-	1	0	COG8	67924178	1.000000	0.71417	0.966000	0.40874	0.847000	0.48162	9.379000	0.97198	2.802000	0.96397	0.655000	0.94253	CCG	COG8	-	pirsf_COG8_Metazoal_Plant	ENSG00000213380		0.473	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG8	HGNC	protein_coding	OTTHUMT00000268948.2	-	0	58	0	G	NM_032382		69366677	-1	tier1	-	no_errors	ENST00000306875	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	69366677	G	T	69366677	3	4	179	1	0	0	0	0	1	0	0	0	3671	1174	41	3	324	3	COG8	16	69366677	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	11633765	69366677	20988076	177	44612											
GLG1	2734	genome.wustl.edu	37	chr16	74496521	74496521	+	Silent	SNP	G	G	T	0	0	1	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	tttcttaacatggggtttaaGcggtaatctagagtagaaag	13	13	11	4	1	2	2	0	0	2	2	2	2	2	2	0	3	2	3	0	3	6	7			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr16:74496521G>T	ENST00000422840.2	-	21	2798	c.2799C>A	c.(2797-2799)cgC>cgA	p.R933R	GLG1_ENST00000205061.5_Silent_p.R933R|Y_RNA_ENST00000384794.1_RNA|GLG1_ENST00000447066.2_Silent_p.R922R	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	933					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						TGGGGTTTAAGCGGTAATCTA	0.398																																																	0													84	82	82					16																	74496521		2198	4300	6498	SO:0001819	synonymous_variant	0				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.2799C>A	16.37:g.74496521G>T			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	pfam_Cys-rich_GLG1_repeat	p.R933	ENST00000422840.2	37	c.2799	CCDS45527.1	16																																																																																			GLG1	-	pfam_Cys-rich_GLG1_repeat	ENSG00000090863		0.398	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	-	0	57	0	G	NM_012201		74496521	-1	tier1	-	no_errors	ENST00000205061	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T	T	74496521	G	T	74496521	2	4	179	1	0	0	0	0	0	0	0	1	6462	958	34	3		3	GLG1	16	74496521	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	5129844	74496521	15858232	178	44613											
TP53	7157	genome.wustl.edu	37	chr17	7577062	7577062	+	Frame_Shift_Del	DEL	T	T	-																															agctcgtggtgaggctccccTttcttgcggagattctcttc																										TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:7577062delT	ENST00000269305.4	-	8	1065	c.876delA	c.(874-876)aaafs	p.K292fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K292fs	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.G293fs*13(3)|p.K292N(3)|p.?(2)|p.T284_G293del10(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.K292K(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)	GAGGCTCCCCTTTCTTGCGGA	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"	31	Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Insertion - Frameshift(3)|Substitution - Missense(3)|Unknown(2)|Complex - deletion inframe(1)|Substitution - coding silent(1)	upper_aerodigestive_tract(12)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|breast(2)|salivary_gland(1)|stomach(1)|kidney(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)											106	92	96					17																	7577062		2203	4300	6503	SO:0001589	frameshift_variant	0	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.876delA	17.37:g.7577062delT	ENSP00000269305:p.Lys292fs		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E294fs	ENST00000269305.4	37	c.876	CCDS11118.1	17																																																																																			TP53	-	NULL	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	36	0	T	NM_000546		7577062	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	71.70	15	38	DEL	0.411	-	-	7577062	T	-	7577062	7	5	179	1	0	1	0	1	0	0	0	0	16429	1606	56	0	410	0	TP53	17	7577062	Frame_Shift_Del	DEL	T	TCGA-XP-A8T7-01A-11D-A36J-09		7577062	73618148	179	44614											
ZNF287	57336	genome.wustl.edu	37	chr17	16456146	16456146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgatgtatagtaaggtgtGcacgctggctgaaggcttta	9	13	13	6	1	1	2	0	2	1	0	1	2	1	2	0	3	1	6	0	3	5	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:16456146G>T	ENST00000395824.1	-	6	1927	c.1310C>A	c.(1309-1311)gCa>gAa	p.A437E	ZNF287_ENST00000395825.3_Missense_Mutation_p.A437E			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	430					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AGTAAGGTGTGCACGCTGGCT	0.448																																																	0													138	122	127					17																	16456146		2203	4300	6503	SO:0001583	missense	0			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1310C>A	17.37:g.16456146G>T	ENSP00000379168:p.Ala437Glu		Q6IAG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A437E	ENST00000395824.1	37	c.1310	CCDS11179.2	17	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190494	0.38707	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.15487	2.42;2.42	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000053	T	0.12135	0.0295	N	0.26092	0.79	0.28400	N	0.918676	P	0.40553	0.721	B	0.31191	0.125	T	0.11446	-1.0587	10	0.54805	T	0.06	.	16.6061	0.84830	0.0:0.0:1.0:0.0	.	430	Q9HBT7	ZN287_HUMAN	E	437	ENSP00000379169:A437E;ENSP00000379168:A437E	ENSP00000379168:A437E	A	-	2	0	ZNF287	16396871	0.000000	0.05858	0.999000	0.59377	0.039000	0.13416	0.491000	0.22419	2.873000	0.98535	0.561000	0.74099	GCA	ZNF287	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000141040		0.448	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	HGNC	protein_coding	OTTHUMT00000130504.1	-	0	55	0	G			16456146	-1	tier1	-	no_errors	ENST00000395824	ensembl	human	known	74_37	missense	6.45	57	4	SNP	0.829	T	T	16456146	G	T	16456146	3	4	179	1	0	0	0	0	1	0	0	0	17873	1319	46	3	979	3	ZNF287	17	16456146	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	8879084	16456146	64739064	180	44615											
FLCN	201163	genome.wustl.edu	37	chr17	17131444	17131444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtggcagagagccacgatgGcattcatggtgccttggaga	10	8	15	8	1	1	2	1	0	0	2	1	5	1	2	2	4	2	2	2	4	0	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:17131444G>A	ENST00000285071.4	-	4	462	c.8C>T	c.(7-9)gCc>gTc	p.A3V	FLCN_ENST00000389169.5_Missense_Mutation_p.A3V|RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.A3V	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	3					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						AGCCACGATGGCATTCATGGT	0.607									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																								0													42	33	36					17																	17131444		2203	4300	6503	SO:0001583	missense	0	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.8C>T	17.37:g.17131444G>A	ENSP00000285071:p.Ala3Val		A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	pfam_Folliculin	p.A3V	ENST00000285071.4	37	c.8	CCDS32579.1	17	.	.	.	.	.	.	.	.	.	.	G	18.54	3.647193	0.67358	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000389168;ENST00000389171	D;D	0.94184	-3.37;-3.1	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95781	0.8627	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	0.996;0.998;1.0	D;D;D	0.80764	0.931;0.994;0.988	D	0.95544	0.8615	10	0.52906	T	0.07	-21.3337	18.4682	0.90763	0.0:0.0:1.0:0.0	.	3;3;3	Q8NFG4-3;Q8NFG4-2;Q8NFG4	.;.;FLCN_HUMAN	V	3	ENSP00000285071:A3V;ENSP00000373821:A3V	ENSP00000285071:A3V	A	-	2	0	FLCN	17072169	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.147000	0.94646	2.606000	0.88127	0.655000	0.94253	GCC	FLCN	-	NULL	ENSG00000154803		0.607	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLCN	HGNC	protein_coding	OTTHUMT00000131577.1	-	0	34	0	G	NM_144606		17131444	-1	tier1	-	no_errors	ENST00000285071	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	17131444	G	A	17131444	3	1	179	1	0	0	0	0	1	0	0	0	5943	1203	42	3	1933	3	FLCN	17	17131444	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	675298	17131444	64063766	181	44616											
SLC13A2	9058	genome.wustl.edu	37	chr17	26822705	26822705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagagtggctgggaaacaaGctgaccccactgcagagtgt	11	7	13	10	0	1	3	1	1	0	2	1	4	1	4	2	2	3	3	2	2	2	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:26822705G>A	ENST00000314669.5	+	10	1761	c.1341G>A	c.(1339-1341)aaG>aaA	p.K447K	SLC13A2_ENST00000444914.3_Silent_p.K496K|SLC13A2_ENST00000537681.1_Silent_p.K376K|SLC13A2_ENST00000545060.1_Silent_p.K404K	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	447					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)	TGGGAAACAAGCTGACCCCAC	0.622																																																	0													113	87	96					17																	26822705		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1341G>A	17.37:g.26822705G>A			B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.K496	ENST00000314669.5	37	c.1488	CCDS11231.1	17																																																																																			SLC13A2	-	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	ENSG00000007216		0.622	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A2	HGNC	protein_coding	OTTHUMT00000255722.1		0	100	0	G	NM_003984		26822705	1			no_errors	ENST00000444914	ensembl	human	known	74_37	silent	7.44	112	9	SNP	0.903	A	A	26822705	G	A	26822705	2	1	179	1	0	0	0	0	0	0	0	1	14437	962	34	3		3	SLC13A2	17	26822705	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	9691261	26822705	54372505	182	44617											
ACACA	31	genome.wustl.edu	37	chr17	35598921	35598921	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataaagaagacttcccgttCagatttccggttcaatgtag	12	12	8	9	2	2	3	2	0	0	3	4	3	4	3	2	1	0	3	2	1	5	6			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:35598921C>G	ENST00000394406.2	-	23	3059	c.2869G>C	c.(2869-2871)Gaa>Caa	p.E957Q	ACACA_ENST00000353139.5_Missense_Mutation_p.E994Q|ACACA_ENST00000335166.5_Missense_Mutation_p.E879Q|ACACA_ENST00000360679.3_Missense_Mutation_p.E899Q	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	957					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)	ACTTCCCGTTCAGATTTCCGG	0.423																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													139	124	129					17																	35598921		2203	4300	6503	SO:0001583	missense	0			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.2869G>C	17.37:g.35598921C>G	ENSP00000377928:p.Glu957Gln		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.E994Q	ENST00000394406.2	37	c.2980	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725496	0.89298	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	4.89	4.89	0.63831	Acetyl-CoA carboxylase, central domain (1);	0.048663	0.85682	D	0.000000	T	0.71804	0.3383	L	0.52126	1.63	0.80722	D	1	B;B;B	0.29508	0.246;0.064;0.052	P;B;B	0.48598	0.583;0.098;0.087	T	0.72779	-0.4190	10	0.56958	D	0.05	-16.6877	17.2142	0.86938	0.0:1.0:0.0:0.0	.	994;957;899	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	Q	994;899;957;981;879	ENSP00000344789:E994Q;ENSP00000353898:E899Q;ENSP00000377928:E957Q;ENSP00000335323:E879Q	ENSP00000335323:E879Q	E	-	1	0	ACACA	32673034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.535000	0.85469	0.591000	0.81541	GAA	ACACA	-	pfam_AcCoA_COase_cen	ENSG00000132142		0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0	38	0	C	NM_198836		35598921	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	missense	23.53	37	12	SNP	0.996	G	G	35598921	C	G	35598921	3	3	179	1	0	0	0	0	1	0	0	0	106	835	29	5	4307	5	ACACA	17	35598921	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	8776216	35598921	45596289	183	44618											
PCGF2	7703	genome.wustl.edu	37	chr17	36892358	36892358	+	Frame_Shift_Del	DEL	G	G	-																															ctcacccgccgccaggggtaGatgtaggcgatgtccatgag																										TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:36892358delG	ENST00000580830.1	-	11	1343	c.642delC	c.(640-642)atcfs	p.I214fs	PCGF2_ENST00000578109.1_Frame_Shift_Del_p.L162fs|PCGF2_ENST00000360797.2_Frame_Shift_Del_p.I214fs|PCGF2_ENST00000581345.1_Frame_Shift_Del_p.I214fs|PCGF2_ENST00000579882.1_Frame_Shift_Del_p.L216fs|PCGF2_ENST00000585100.1_Frame_Shift_Del_p.L216fs			P35227	PCGF2_HUMAN	polycomb group ring finger 2	214					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)					GCCAGGGGTAGATGTAGGCGA	0.627																																																	0													101	62	75					17																	36892358		2199	4298	6497	SO:0001589	frameshift_variant	0			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.642delC	17.37:g.36892358delG	ENSP00000461961:p.Ile214fs		A6NGD8	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Y215fs	ENST00000580830.1	37	c.642	CCDS32638.1	17																																																																																			PCGF2	-	NULL	ENSG00000056661		0.627	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF2	HGNC	protein_coding	OTTHUMT00000442246.2		0	14	0	G	NM_007144		36892358	-1	tier1		no_errors	ENST00000360797	ensembl	human	known	74_37	frame_shift_del	37.14	22	13	DEL	1.000	-	-	36892358	G	-	36892358	7	5	179	1	0	1	0	1	0	0	0	0	11614	932	33	0	400	0	PCGF2	17	36892358	Frame_Shift_Del	DEL	G	TCGA-XP-A8T7-01A-11D-A36J-09	1293437	36892358	44302852	184	44619											
LRRC37A2	474170	genome.wustl.edu	37	chr17	44626126	44626126	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccgaagaaaaaaggctcggGagtccagccccaagggaggt	13	3	15	10	2	0	1	0	0	0	1	2	4	1	3	4	4	1	1	4	4	5	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:44626126G>A	ENST00000576629.1	+	10	4116	c.3621G>A	c.(3619-3621)ggG>ggA	p.G1207G	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Silent_p.G1207G|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1207						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AAAGGCTCGGGAGTCCAGCCC	0.582																																																	0													47	87	74					17																	44626126		2183	4300	6483	SO:0001819	synonymous_variant	0			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3621G>A	17.37:g.44626126G>A			B7ZMC3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G1207	ENST00000576629.1	37	c.3621	CCDS42353.1	17																																																																																			LRRC37A2	-	NULL	ENSG00000238083		0.582	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	-	0	127	0	G	NM_001006607		44626126	1	tier1	-	no_errors	ENST00000333412	ensembl	human	known	74_37	silent	20.43	148	38	SNP	0.050	A	A	44626126	G	A	44626126	2	1	179	1	0	0	0	0	0	0	0	1	9027	1161	41	3		3	LRRC37A2	17	44626126	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	7733768	44626126	36569084	185	44620											
UTP18	51096	genome.wustl.edu	37	chr17	49354628	49354628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctttatgtctatgacatGctggctggaaagttaattcc	9	16	9	7	0	2	1	0	1	2	0	3	2	3	2	1	2	1	4	1	2	4	6			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:49354628G>A	ENST00000225298.7	+	7	1032	c.975G>A	c.(973-975)atG>atA	p.M325I		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	325					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)			TCTATGACATGCTGGCTGGAA	0.418																																																	0													129	118	122					17																	49354628		1913	4118	6031	SO:0001583	missense	0			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.975G>A	17.37:g.49354628G>A	ENSP00000225298:p.Met325Ile		Q9H4N6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M325I	ENST00000225298.7	37	c.975	CCDS42362.1	17	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962653	0.92791	.	.	ENSG00000011260	ENST00000225298;ENST00000508506;ENST00000506940	D	0.97480	-4.4	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97936	0.9321	L	0.59912	1.85	0.80722	D	1	D	0.64830	0.994	D	0.66351	0.943	D	0.97585	1.0113	10	0.45353	T	0.12	-25.6973	20.3591	0.98849	0.0:0.0:1.0:0.0	.	325	Q9Y5J1	UTP18_HUMAN	I	325;301;35	ENSP00000225298:M325I	ENSP00000225298:M325I	M	+	3	0	UTP18	46709627	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.314000	0.89980	2.816000	0.96949	0.561000	0.74099	ATG	UTP18	-	superfamily_WD40_repeat_dom	ENSG00000011260		0.418	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP18	HGNC	protein_coding	OTTHUMT00000368654.1	-	0	66	0	G	NM_016001		49354628	1	tier1	-	no_errors	ENST00000225298	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	49354628	G	A	49354628	3	1	179	1	0	0	0	0	1	0	0	0	17147	1319	46	3	1001	3	UTP18	17	49354628	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	4728502	49354628	31840582	186	44621											
MKS1	54903	genome.wustl.edu	37	chr17	56296579	56296579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cccggtgtcagtgctccagaCggtctccgccatgacagctg	6	8	12	15	3	2	2	1	1	1	1	4	2	3	2	4	2	2	2	4	2	0	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:56296579C>T	ENST00000393119.2	-	1	87	c.13G>A	c.(13-15)Gtc>Atc	p.V5I	LPO_ENST00000582328.1_Intron|MKS1_ENST00000537529.2_Intron|MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000337050.7_Missense_Mutation_p.V5I|MKS1_ENST00000313863.6_Missense_Mutation_p.V5I	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	5					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						GTGCTCCAGACGGTCTCCGCC	0.706																																																	0													5	9	8					17																	56296579		1778	3650	5428	SO:0001583	missense	0			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.13G>A	17.37:g.56296579C>T	ENSP00000376827:p.Val5Ile		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	pfam_B9_dom	p.V5I	ENST00000393119.2	37	c.13	CCDS11603.2	17	.	.	.	.	.	.	.	.	.	.	C	7.675	0.687748	0.14973	.	.	ENSG00000011143	ENST00000393120;ENST00000393119;ENST00000337050	T;T;T	0.68331	1.49;-0.32;-0.1	4.88	-1.84	0.07809	.	1.474740	0.04435	U	0.369993	T	0.45736	0.1357	N	0.22421	0.69	0.09310	N	0.999995	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.0	T	0.11690	-1.0577	10	0.21014	T	0.42	-8.5104	1.7811	0.03031	0.1158:0.3686:0.2267:0.2889	.	5;5	A8MPP8;Q9NXB0	.;MKS1_HUMAN	I	5	ENSP00000376828:V5I;ENSP00000376827:V5I;ENSP00000338407:V5I	ENSP00000338407:V5I	V	-	1	0	MKS1	53651578	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	0.092000	0.15066	-0.117000	0.11872	-0.189000	0.12847	GTC	MKS1	-	NULL	ENSG00000011143		0.706	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MKS1	HGNC	protein_coding	OTTHUMT00000258015.2		0	65	0	C	NM_017777		56296579	-1			no_errors	ENST00000393119	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T	T	56296579	C	T	56296579	3	4	179	1	0	0	0	0	1	0	0	0	9647	536	19	1	1738	1	MKS1	17	56296579	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	6941951	56296579	24898631	187	44622											
C17orf47	284083	genome.wustl.edu	37	chr17	56620587	56620587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcctcggattggggtcctcaCgttggactccacctgtgatg	5	12	12	12	2	1	1	1	1	0	0	5	3	4	3	4	4	0	1	4	4	0	2	rs373119715		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:56620587C>T	ENST00000321691.3	-	1	1142	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	321										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGTCCTCACGTTGGACTCC	0.537																																																	0								C	MET/VAL	0,4406		0,0,2203	94	84	87		961	-10.6	0	17		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	C17orf47	NM_001038704.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	321/571	56620587	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.961G>A	17.37:g.56620587C>T	ENSP00000354874:p.Val321Met		Q8N821	Missense_Mutation	SNP	NULL	p.V321M	ENST00000321691.3	37	c.961	CCDS32691.1	17	.	.	.	.	.	.	.	.	.	.	C	8.096	0.775509	0.16051	0.0	1.16E-4	ENSG00000181013	ENST00000321691	T	0.32515	1.45	5.32	-10.6	0.00265	.	2.074920	0.01824	N	0.034257	T	0.12178	0.0296	N	0.11560	0.145	0.09310	N	1	B	0.28584	0.216	B	0.15870	0.014	T	0.10800	-1.0614	10	0.39692	T	0.17	3.971	5.7628	0.18209	0.0804:0.137:0.2389:0.5437	.	321	Q8NEP4	CQ047_HUMAN	M	321	ENSP00000354874:V321M	ENSP00000354874:V321M	V	-	1	0	C17orf47	53975586	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.400000	0.00240	-3.230000	0.00209	-0.521000	0.04368	GTG	C17orf47	-	NULL	ENSG00000181013		0.537	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf47	HGNC	protein_coding	OTTHUMT00000445443.1	-	0	31	0	C	NM_001038704		56620587	-1	tier1	-	no_errors	ENST00000321691	ensembl	human	known	74_37	missense	41.94	18	13	SNP	0.000	T	T	56620587	C	T	56620587	3	4	179	1	0	0	0	0	1	0	0	0	1864	536	19	1	759	1	C17orf47	17	56620587	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	324008	56620587	24574623	188	44623											
MAP3K3	4215	genome.wustl.edu	37	chr17	61744308	61744308	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttttacagaacagttcCtctccccactctggggtgtc	6	14	7	14	0	3	1	0	0	3	1	6	1	4	1	3	2	2	1	3	2	2	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:61744308C>A	ENST00000361733.3	+	6	710	c.390C>A	c.(388-390)tcC>tcA	p.S130S	MAP3K3_ENST00000584573.1_Silent_p.S161S|MAP3K3_ENST00000577395.1_Silent_p.S130S|MAP3K3_ENST00000361357.3_Silent_p.S161S|MAP3K3_ENST00000579585.1_Silent_p.S161S	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	130					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						AGAACAGTTCCTCTCCCCACT	0.532																																																	0													137	125	129					17																	61744308		2203	4300	6503	SO:0001819	synonymous_variant	0			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.390C>A	17.37:g.61744308C>A			B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S161	ENST00000361733.3	37	c.483	CCDS32702.1	17																																																																																			MAP3K3	-	NULL	ENSG00000198909		0.532	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	MAP3K3	HGNC	protein_coding	OTTHUMT00000443867.1	-	0	67	0	C	NM_002401		61744308	1	tier1	-	no_errors	ENST00000361357	ensembl	human	known	74_37	silent	44.33	54	43	SNP	1.000	A	A	61744308	C	A	61744308	2	1	179	1	0	0	0	0	0	0	0	1	9289	668	24	3		3	MAP3K3	17	61744308	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	5123721	61744308	19450902	189	44624											
CD300A	11314	genome.wustl.edu	37	chr17	72477866	72477866	+	Splice_Site	SNP	C	C	G	0	0	0	1	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	ggacctcctgcccacccaggCtgccacgcagagtgagctgc	7	5	12	17	1	0	2	0	1	0	1	1	3	1	3	5	2	4	3	5	2	0	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr17:72477866C>G	ENST00000360141.3	+	6	956	c.668C>G	c.(667-669)gCt>gGt	p.A223G	CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Splice_Site_p.A27G|CD300A_ENST00000310828.5_Splice_Site_p.A110G|CD300A_ENST00000577511.1_Splice_Site_p.A93G	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	223					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CCCACCCAGGCTGCCACGCAG	0.617																																																	0													39	31	34					17																	72477866		2203	4300	6503	SO:0001630	splice_region_variant	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.667-1C>G	17.37:g.72477866C>G			A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.A223G	ENST00000360141.3	37	c.668	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927496	0.52759	.	.	ENSG00000167851	ENST00000361933;ENST00000360141;ENST00000310828	T;T	0.41400	1.0;1.0	3.89	-2.08	0.07254	.	.	.	.	.	T	0.30386	0.0763	L	0.54323	1.7	0.09310	N	1	B;B;B	0.31459	0.053;0.324;0.243	B;B;B	0.30495	0.037;0.112;0.116	T	0.37663	-0.9696	9	0.87932	D	0	.	0.752	0.00992	0.3179:0.3331:0.1554:0.1936	.	27;110;223	Q9UGN4-3;Q9UGN4-2;Q9UGN4	.;.;CLM8_HUMAN	G	27;223;110	ENSP00000353259:A223G;ENSP00000308188:A110G	ENSP00000308188:A110G	A	+	2	0	CD300A	69989461	0.005000	0.15991	0.009000	0.14445	0.369000	0.29798	-0.403000	0.07214	-0.311000	0.08754	0.561000	0.74099	GCT	CD300A	-	NULL	ENSG00000167851		0.617	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	-	0	60	0	C	NM_007261	Missense_Mutation	72477866	1	tier1	-	no_errors	ENST00000360141	ensembl	human	known	74_37	missense	39.51	49	32	SNP	0.009	G	G	72477866	C	G	72477866	5	3	179	1	0	0	0	0	0	0	1	0	3003	811	28	5	690	5	CD300A	17	72477866	Splice_Site	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	10733558	72477866	8717344	190	44625											
LAMA1	284217	genome.wustl.edu	37	chr18	7050775	7050775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgtaggtgggtggccctCgtcttggagttatattgtaa	6	14	13	8	1	1	0	0	0	1	0	2	1	1	1	2	4	0	3	2	4	4	6	rs377017068		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr18:7050775C>T	ENST00000389658.3	-	4	599	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	169	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)				GGGTGGCCCTCGTCTTGGAGT	0.512																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	127	104	112		506	4	1	18		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMA1	NM_005559.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	169/3076	7050775	2,13004	2203	4300	6503	SO:0001583	missense	0			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.506G>A	18.37:g.7050775C>T	ENSP00000374309:p.Arg169Gln			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R169Q	ENST00000389658.3	37	c.506	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252359	0.80135	2.27E-4	1.16E-4	ENSG00000101680	ENST00000389658	T	0.76316	-1.01	5.96	4.02	0.46733	Laminin, N-terminal (3);	0.366981	0.24681	N	0.036476	T	0.65481	0.2695	N	0.25485	0.75	0.25731	N	0.985264	D	0.61697	0.99	P	0.48304	0.573	T	0.55477	-0.8135	10	0.13853	T	0.58	.	6.988	0.24739	0.3661:0.5447:0.0:0.0892	.	169	P25391	LAMA1_HUMAN	Q	169	ENSP00000374309:R169Q	ENSP00000374309:R169Q	R	-	2	0	LAMA1	7040775	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.693000	0.47027	1.526000	0.49068	0.655000	0.94253	CGA	LAMA1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	60	0	C	NM_005559		7050775	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	35.85	34	19	SNP	0.967	T	T	7050775	C	T	7050775	3	4	179	1	0	0	0	0	1	0	0	0	8633	884	31	1	8961	1	LAMA1	18	7050775	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09		7050775	71026473	191	44626											
DSG3	1830	genome.wustl.edu	37	chr18	29049300	29049302	+	In_Frame_Del	DEL	CTG	CTG	-																															gcctgctgctccttggtctcCtgctgctgctgtgtgagtag																										TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr18:29049300_29049302delCTG	ENST00000257189.4	+	12	1968_1970	c.1885_1887delCTG	c.(1885-1887)ctgdel	p.L633del		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	633					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTTGGTCTCCTGCTGCTGCTGT	0.586																																																	0																																										SO:0001651	inframe_deletion	0			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1885_1887delCTG	18.37:g.29049309_29049311delCTG	ENSP00000257189:p.Leu633del		A8K2V2	In_Frame_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.L632in_frame_del	ENST00000257189.4	37	c.1885_1887	CCDS11898.1	18																																																																																			DSG3	-	NULL	ENSG00000134757		0.586	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1		0	10	0	CTG	NM_001944		29049302	1			no_errors	ENST00000257189	ensembl	human	known	74_37	in_frame_del	22.22	7	2	DEL	0.032:0.312:0.304	0	-	29049302	CTG	-	29049300	7	5	179	1	0	1	0	1	0	0	0	0	4792	680	24	0	1931	0	DSG3	18	29049300	In_Frame_Del	DEL	CTG	TCGA-XP-A8T7-01A-11D-A36J-09	21998525	29049300	49027948	192	44627											
RAVER1	125950	genome.wustl.edu	37	chr19	10439552	10439552	+	Silent	SNP	G	G	T	0	0	1	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	atgtactcagcaaagccataGcccttggattggccagtgcg	10	9	11	11	1	1	0	1	0	0	0	1	1	1	1	3	2	5	2	3	2	3	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:10439552G>T	ENST00000293677.6	-	3	654	c.573C>A	c.(571-573)ggC>ggA	p.G191G		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	174	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAAAGCCATAGCCCTTGGATT	0.632																																																	0													33	38	36					19																	10439552		2108	4234	6342	SO:0001819	synonymous_variant	0				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.573C>A	19.37:g.10439552G>T			A6NMU4|Q8IY60|Q8TF24	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G191	ENST00000293677.6	37	c.573	CCDS45960.1	19																																																																																			RAVER1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000161847		0.632	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000451227.1		0	65	0	G	NM_133452		10439552	-1			no_errors	ENST00000293677	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.999	T	T	10439552	G	T	10439552	2	4	179	1	0	0	0	0	0	0	0	1	13139	958	34	3		3	RAVER1	19	10439552	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09		10439552	48689431	193	44628											
TRMT1	55621	genome.wustl.edu	37	chr19	13226539	13226539	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tcctcctcttgctctgacaaGtccacgaccactttttgcgt	6	14	6	15	2	2	1	0	1	2	0	5	2	5	1	4	0	2	1	4	0	1	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:13226539G>T	ENST00000592062.1	-	5	924	c.354C>A	c.(352-354)gaC>gaA	p.D118E	TRMT1_ENST00000592892.1_5'UTR|NACC1_ENST00000292431.4_5'Flank|TRMT1_ENST00000437766.1_Missense_Mutation_p.D118E|TRMT1_ENST00000221504.8_Missense_Mutation_p.D118E|TRMT1_ENST00000357720.4_Missense_Mutation_p.D118E			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	118	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCTCTGACAAGTCCACGACCA	0.542																																																	0													201	206	204					19																	13226539		2203	4300	6503	SO:0001583	missense	0			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.354C>A	19.37:g.13226539G>T	ENSP00000466967:p.Asp118Glu		O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1	p.D118E	ENST00000592062.1	37	c.354	CCDS12293.1	19	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221364	0.39300	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.74	2.63	0.31362	.	0.784522	0.12115	N	0.498209	T	0.38612	0.1047	N	0.26162	0.8	0.33836	D	0.630808	B;B	0.25390	0.007;0.125	B;B	0.31390	0.005;0.129	T	0.43015	-0.9417	9	0.19590	T	0.45	-23.0341	8.5506	0.33449	0.1885:0.0:0.8115:0.0	.	118;118	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	E	118	.	ENSP00000221504:D118E	D	-	3	2	TRMT1	13087539	0.999000	0.42202	0.999000	0.59377	0.808000	0.45660	0.347000	0.20014	0.618000	0.30179	0.563000	0.77884	GAC	TRMT1	-	pfam_TRM1,tigrfam_TRM1	ENSG00000104907		0.542	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1	HGNC	protein_coding	OTTHUMT00000452780.2	-	0	26	0	G	NM_017722		13226539	-1	tier1	-	no_errors	ENST00000357720	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.998	T	T	13226539	G	T	13226539	3	4	179	1	0	0	0	0	1	0	0	0	16609	1020	36	3	1681	3	TRMT1	19	13226539	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	2786987	13226539	45902444	194	44629											
CACNA1A	773	genome.wustl.edu	37	chr19	13616860	13616860	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cggggatggggttgtagagtGccatggtccgcgctctctgc	4	10	17	10	3	1	1	0	0	1	1	3	2	2	2	2	5	2	3	2	5	1	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:13616860G>T	ENST00000360228.5	-	1	178	c.179C>A	c.(178-180)gCa>gAa	p.A60E	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A60E	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	60					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)	GTTGTAGAGTGCCATGGTCCG	0.627																																																	0													96	105	102					19																	13616860		2099	4220	6319	SO:0001583	missense	0			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.179C>A	19.37:g.13616860G>T	ENSP00000353362:p.Ala60Glu		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.A60E	ENST00000360228.5	37	c.179	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372091	0.61624	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96619	-4.07	3.04	3.04	0.35103	.	0.000000	0.53938	U	0.000042	D	0.97253	0.9102	M	0.65498	2.005	0.52501	D	0.999958	P;D	0.63880	0.808;0.993	B;D	0.70227	0.291;0.968	D	0.97527	1.0077	10	0.87932	D	0	.	12.941	0.58345	0.0:0.0:1.0:0.0	.	60;60	O00555;Q9NS88	CAC1A_HUMAN;.	E	60	ENSP00000353362:A60E	ENSP00000317661:A60E	A	-	2	0	CACNA1A	13477860	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.247000	0.95444	1.530000	0.49136	0.508000	0.49915	GCA	CACNA1A	-	NULL	ENSG00000141837		0.627	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0	33	0	G	NM_000068		13616860	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	13616860	G	T	13616860	3	4	179	1	0	0	0	0	1	0	0	0	2545	1319	46	3	7643	3	CACNA1A	19	13616860	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	390321	13616860	45512123	195	44630											
AP1M1	8907	genome.wustl.edu	37	chr19	16317176	16317176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tgccacatccaagaagaacgCgtgcgtgtcgctggtctttt	8	11	11	11	4	1	2	0	0	1	2	3	2	2	2	2	1	3	1	2	1	3	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:16317176C>T	ENST00000291439.3	+	3	673	c.224C>T	c.(223-225)gCg>gTg	p.A75V	AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Missense_Mutation_p.A75V|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.A75V	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	75					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						AAGAAGAACGCGTGCGTGTCG	0.587																																																	0													261	232	242					19																	16317176		2203	4300	6503	SO:0001583	missense	0				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.224C>T	19.37:g.16317176C>T	ENSP00000291439:p.Ala75Val		Q4TTY5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.A75V	ENST00000291439.3	37	c.224	CCDS12342.1	19	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666489	0.29604	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000429941	T;T;T	0.61627	0.72;0.7;0.09	4.1	4.1	0.47936	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	N	0.20401	0.57	0.80722	D	1	B;B;B	0.29085	0.006;0.232;0.145	B;B;B	0.28385	0.006;0.089;0.089	T	0.25641	-1.0126	10	0.15499	T	0.54	-36.5236	14.9163	0.70801	0.0:1.0:0.0:0.0	.	75;75;75	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	V	75	ENSP00000388996:A75V;ENSP00000291439:A75V;ENSP00000411498:A75V	ENSP00000291439:A75V	A	+	2	0	AP1M1	16178176	1.000000	0.71417	0.023000	0.16930	0.002000	0.02628	5.529000	0.67135	1.852000	0.53769	0.655000	0.94253	GCG	AP1M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu	ENSG00000072958		0.587	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	-	0	27	0	C	NM_032493		16317176	1	tier1	-	no_errors	ENST00000444449	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.996	T	T	16317176	C	T	16317176	3	4	179	1	0	0	0	0	1	0	0	0	734	768	27	1	234	1	AP1M1	19	16317176	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	2700316	16317176	42811807	196	44631											
ZNF708	7562	genome.wustl.edu	37	chr19	21476787	21476787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaccagtatgaatcctCttatgtgtagtaaggtgtga	10	15	9	7	0	2	2	1	2	2	0	4	2	3	2	2	1	0	3	2	1	5	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:21476787C>A	ENST00000356929.3	-	4	1178	c.981G>T	c.(979-981)aaG>aaT	p.K327N		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TATGAATCCTCTTATGTGTAG	0.363																																																	0													62	64	63					19																	21476787		2203	4300	6503	SO:0001583	missense	0			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.981G>T	19.37:g.21476787C>A	ENSP00000349401:p.Lys327Asn		Q6ZMR0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K327N	ENST00000356929.3	37	c.981	CCDS32980.1	19	.	.	.	.	.	.	.	.	.	.	.	11.94	1.788185	0.31593	.	.	ENSG00000182141	ENST00000356929	T	0.07567	3.18	1.05	-0.674	0.11369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	L	0.41906	1.305	0.09310	N	1	P	0.46621	0.881	P	0.51918	0.684	T	0.21348	-1.0248	9	0.66056	D	0.02	.	6.2049	0.20598	0.0:0.7993:0.0:0.2007	.	327	P17019	ZN708_HUMAN	N	327	ENSP00000349401:K327N	ENSP00000349401:K327N	K	-	3	2	ZNF708	21268627	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.011000	0.12721	-0.354000	0.08212	-0.350000	0.07774	AAG	ZNF708	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182141		0.363	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF708	HGNC	protein_coding	OTTHUMT00000463953.1	-	0	35	0	C	NM_021269		21476787	-1	tier1	-	no_errors	ENST00000356929	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.183	A	A	21476787	C	A	21476787	3	1	179	1	0	0	0	0	1	0	0	0	18160	912	32	3	714	3	ZNF708	19	21476787	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	5159611	21476787	37652196	197	44632											
NPHS1	4868	genome.wustl.edu	37	chr19	36333045	36333045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgggatcttggagatccaGagggaccccgttttttgtcc	6	12	12	11	1	1	2	0	0	1	2	3	5	3	4	5	3	0	1	5	3	0	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:36333045G>A	ENST00000378910.5	-	19	2643	c.2644C>T	c.(2644-2646)Ctg>Ttg	p.L882L	NPHS1_ENST00000353632.6_Silent_p.L882L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	882	Ig-like C2-type 8.				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)			TGGAGATCCAGAGGGACCCCG	0.632																																																	0													21	19	19					19																	36333045		2200	4296	6496	SO:0001819	synonymous_variant	0				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.2644C>T	19.37:g.36333045G>A			A6NDH2|C3RX61	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L882	ENST00000378910.5	37	c.2644	CCDS32996.1	19																																																																																			NPHS1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000161270		0.632	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	-	0	49	0	G			36333045	-1	tier1	-	no_errors	ENST00000378910	ensembl	human	known	74_37	silent	28.26	33	13	SNP	1.000	A	A	36333045	G	A	36333045	2	1	179	1	0	0	0	0	0	0	0	1	10621	933	33	3		3	NPHS1	19	36333045	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	14856258	36333045	22795938	198	44633											
ZNF566	84924	genome.wustl.edu	37	chr19	36963867	36963867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccagggctccttcccttGctccaagtaggagatcacat	10	9	8	14	0	1	1	1	0	0	1	4	2	4	1	4	2	2	3	4	2	3	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:36963867G>T	ENST00000434377.2	-	4	259	c.178C>A	c.(178-180)Caa>Aaa	p.Q60K	ZNF566_ENST00000454319.1_Missense_Mutation_p.Q61K|ZNF566_ENST00000424129.2_Missense_Mutation_p.Q60K|ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000392170.2_Missense_Mutation_p.Q61K	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TCCTTCCCTTGCTCCAAGTAG	0.443																																																	0													250	233	239					19																	36963867		2203	4300	6503	SO:0001583	missense	0			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"Zinc fingers, C2H2-type", "-"	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.178C>A	19.37:g.36963867G>T	ENSP00000415520:p.Gln60Lys		B7ZL95|Q2M3J1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q61K	ENST00000434377.2	37	c.181	CCDS12494.1	19	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291869	0.59976	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939;ENST00000427002	T;T;T;T;T;T	0.00949	5.51;5.51;5.51;5.51;5.51;5.51	4.77	4.77	0.60923	Krueppel-associated box (3);	0.000000	0.30667	N	0.009129	T	0.01695	0.0054	M	0.67517	2.055	0.23959	N	0.996347	P;B	0.36144	0.539;0.236	B;B	0.35727	0.209;0.039	T	0.44159	-0.9346	10	0.40728	T	0.16	.	13.1499	0.59484	0.0:0.0:1.0:0.0	.	61;60	B7ZL95;Q969W8	.;ZN566_HUMAN	K	61;60;61;60;60;61	ENSP00000394207:Q61K;ENSP00000415520:Q60K;ENSP00000376010:Q61K;ENSP00000401259:Q60K;ENSP00000411526:Q60K;ENSP00000400651:Q61K	ENSP00000376010:Q61K	Q	-	1	0	ZNF566	41655707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.417000	0.59822	2.459000	0.83118	0.650000	0.86243	CAA	ZNF566	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000186017		0.443	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1		0	31	0	G	NM_032838		36963867	-1			no_errors	ENST00000392170	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	36963867	G	T	36963867	3	4	179	1	0	0	0	0	1	0	0	0	18045	1328	46	3	1086	3	ZNF566	19	36963867	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	630822	36963867	22165116	199	44634											
ZFP112	7771	genome.wustl.edu	37	chr19	44833574	44833574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagggcttctcctctgtttGaattgactcctgattaagta	9	16	8	8	0	2	3	0	3	2	0	4	3	3	3	2	1	0	3	2	1	4	6			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:44833574G>T	ENST00000337401.4	-	5	842	c.754C>A	c.(754-756)Caa>Aaa	p.Q252K	ZNF112_ENST00000536500.1_Missense_Mutation_p.Q269K|ZNF112_ENST00000354340.4_Missense_Mutation_p.Q246K	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCCTCTGTTTGAATTGACTCC	0.423																																																	0													123	120	121					19																	44833574		2203	4300	6503	SO:0001583	missense	0			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.754C>A	19.37:g.44833574G>T	ENSP00000337081:p.Gln252Lys		A4FU53|Q9HCA7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q269K	ENST00000337401.4	37	c.805	CCDS54276.1	19	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845522	0.51164	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.14893	2.47;2.47;2.47	4.85	1.28	0.21552	.	0.544626	0.13898	N	0.355109	T	0.12944	0.0314	L	0.33624	1.015	0.09310	N	1	B;B;B	0.16802	0.011;0.019;0.011	B;B;B	0.09377	0.002;0.004;0.002	T	0.22312	-1.0220	10	0.62326	D	0.03	-2.1527	9.457	0.38760	0.0:0.1438:0.5768:0.2794	.	251;269;252	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	K	252;252;246;269;251	ENSP00000337081:Q252K;ENSP00000346305:Q246K;ENSP00000441990:Q269K	ENSP00000253426:Q251K	Q	-	1	0	ZNF285	49525414	0.011000	0.17503	0.000000	0.03702	0.048000	0.14542	0.559000	0.23485	0.270000	0.21984	0.561000	0.74099	CAA	ZNF112	-	NULL	ENSG00000062370		0.423	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF112	HGNC	protein_coding	OTTHUMT00000460744.1		0	10	0	G	NM_013380		44833574	-1			no_errors	ENST00000536500	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.060	T	T	44833574	G	T	44833574	3	4	179	1	0	0	0	0	1	0	0	0	17686	1299	45	3	1991	3	ZFP112	19	44833574	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	7869707	44833574	14295409	200	44635											
KPTN	11133	genome.wustl.edu	37	chr19	47986768	47986768	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctaggtaccttgatgaaCgtgatccccacaaccagacc	11	8	8	14	1	1	4	0	3	1	1	2	4	2	4	5	1	3	2	5	1	4	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:47986768C>T	ENST00000338134.3	-	2	407	c.300G>A	c.(298-300)acG>acA	p.T100T	NAPA-AS1_ENST00000593284.1_RNA|KPTN_ENST00000595484.1_5'UTR|NAPA-AS1_ENST00000594367.1_RNA|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	100					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)		CCTTGATGAACGTGATCCCCA	0.587											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													33	38	36					19																	47986768		1984	4147	6131	SO:0001819	synonymous_variant	0			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.300G>A	19.37:g.47986768C>T		951	B3KN86|B4DQ76|Q96GT1	Silent	SNP	NULL	p.T100	ENST00000338134.3	37	c.300	CCDS42583.1	19																																																																																			KPTN	-	NULL	ENSG00000118162		0.587	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPTN	HGNC	protein_coding	OTTHUMT00000466672.2	-	0	64	0	C			47986768	-1	tier1	-	no_errors	ENST00000338134	ensembl	human	known	74_37	silent	24.00	38	12	SNP	0.690	T	T	47986768	C	T	47986768	2	4	179	1	0	0	0	0	0	0	0	1	8464	523	19	1		1	KPTN	19	47986768	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	3153194	47986768	11142215	201	44636											
KLK14	43847	genome.wustl.edu	37	chr19	51585853	51585853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatagccaggacttgaagtgCtgtcagcaggaggaacattt	12	10	12	7	0	1	1	1	1	0	0	1	4	1	4	1	3	4	2	1	3	4	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:51585853C>T	ENST00000156499.2	-	3	285	c.67G>A	c.(67-69)Gca>Aca	p.A23T	KLK14_ENST00000391802.1_Missense_Mutation_p.A23T			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	23					epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		ACTTGAAGTGCTGTCAGCAGG	0.547																																					GBM(117;2161 2172 2448 22911)												0													93	94	93					19																	51585853		1918	4124	6042	SO:0001583	missense	0			AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"Kallikreins"	6362	protein-coding gene	gene with protein product		606135	"kallikrein 14"			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.67G>A	19.37:g.51585853C>T	ENSP00000156499:p.Ala23Thr		A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A23T	ENST00000156499.2	37	c.67	CCDS12823.2	19	.	.	.	.	.	.	.	.	.	.	.	10.05	1.243732	0.22796	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.93307	-3.2;-3.2	4.88	1.39	0.22231	.	.	.	.	.	T	0.81442	0.4823	N	0.08118	0	0.09310	N	1	B	0.31227	0.314	B	0.25405	0.06	T	0.72991	-0.4123	9	0.44086	T	0.13	.	3.5129	0.07714	0.1991:0.5887:0.0:0.2122	.	23	Q9P0G3	KLK14_HUMAN	T	23	ENSP00000156499:A23T;ENSP00000375678:A23T	ENSP00000156499:A23T	A	-	1	0	KLK14	56277665	0.000000	0.05858	0.002000	0.10522	0.243000	0.25628	-0.621000	0.05559	0.758000	0.33059	0.552000	0.68991	GCA	KLK14	-	NULL	ENSG00000129437		0.547	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK14	HGNC	protein_coding	OTTHUMT00000289774.2		0	38	0	C	NM_022046		51585853	-1			no_errors	ENST00000156499	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.002	T	T	51585853	C	T	51585853	3	4	179	1	0	0	0	0	1	0	0	0	8429	797	28	3	756	3	KLK14	19	51585853	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	3599085	51585853	7543130	202	44637											
PPP2R1A	5518	genome.wustl.edu	37	chr19	52714685	52714685	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	cacctcccgcacctcggcctGcggcctcttctccgtctgct	2	10	8	21	4	3	0	0	0	3	0	6	0	4	0	6	2	2	2	6	2	0	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:52714685G>A	ENST00000322088.6	+	4	501	c.443G>A	c.(442-444)tGc>tAc	p.C148Y	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.C93Y|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	148	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ACCTCGGCCTGCGGCCTCTTC	0.637			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	0													53	56	55					19																	52714685		2203	4300	6503	SO:0001583	missense	0				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.443G>A	19.37:g.52714685G>A	ENSP00000324804:p.Cys148Tyr		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.C148Y	ENST00000322088.6	37	c.443	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	G	24.4	4.521969	0.85600	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.33438	1.41;1.41	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.66839	0.2830	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.962;0.962	T	0.77869	-0.2427	10	0.87932	D	0	-13.5379	15.2851	0.73822	0.0:0.0:1.0:0.0	.	93;148;148	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	Y	138;148;93	ENSP00000324804:C148Y;ENSP00000415067:C93Y	ENSP00000324804:C148Y	C	+	2	0	PPP2R1A	57406497	1.000000	0.71417	0.988000	0.46212	0.889000	0.51656	8.559000	0.90708	2.547000	0.85894	0.655000	0.94253	TGC	PPP2R1A	-	superfamily_ARM-type_fold	ENSG00000105568		0.637	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	-	0	69	0	G	NM_014225		52714685	1	tier1	-	no_errors	ENST00000322088	ensembl	human	known	74_37	missense	32.98	63	31	SNP	1.000	A	A	52714685	G	A	52714685	3	1	179	1	0	0	0	0	1	0	0	0	12424	1319	46	3	457	3	PPP2R1A	19	52714685	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	1128832	52714685	6414298	203	44638											
BIRC8	112401	genome.wustl.edu	37	chr19	53793366	53793366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttgtaccagagctccctCaagtgaacgggttaaatgaa	13	10	10	8	1	1	3	1	2	0	1	2	3	2	3	2	1	3	4	2	1	6	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:53793366C>T	ENST00000426466.1	-	1	1509	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	88					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AGAGCTCCCTCAAGTGAACGG	0.388																																																	0													205	195	198					19																	53793366		2203	4300	6503	SO:0001583	missense	0			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.262G>A	19.37:g.53793366C>T	ENSP00000412957:p.Glu88Lys		Q6IPY1|Q96RW5	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.E88K	ENST00000426466.1	37	c.262	CCDS12863.1	19	.	.	.	.	.	.	.	.	.	.	C	0.668	-0.803100	0.02841	.	.	ENSG00000163098	ENST00000426466	T	0.37058	1.22	0.502	0.502	0.16932	.	.	.	.	.	T	0.25005	0.0607	L	0.50333	1.59	0.09310	N	0.999993	B	0.14438	0.01	B	0.08055	0.003	T	0.35325	-0.9793	8	0.06099	T	0.92	.	.	.	.	.	88	Q96P09	BIRC8_HUMAN	K	88	ENSP00000412957:E88K	ENSP00000412957:E88K	E	-	1	0	BIRC8	58485178	0.001000	0.12720	0.055000	0.19348	0.042000	0.13812	-0.657000	0.05335	0.578000	0.29487	0.420000	0.28162	GAG	BIRC8	-	NULL	ENSG00000163098		0.388	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	HGNC	protein_coding	OTTHUMT00000464357.1	-	0	55	0	C	NM_033341		53793366	-1	tier1	-	no_errors	ENST00000426466	ensembl	human	known	74_37	missense	23.08	50	15	SNP	0.531	T	T	53793366	C	T	53793366	3	4	179	1	0	0	0	0	1	0	0	0	1442	835	29	3	452	3	BIRC8	19	53793366	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	1078681	53793366	5335617	204	44639											
MBOAT7	79143	genome.wustl.edu	37	chr19	54678123	54678125	+	Splice_Site	DEL	CTC	CTC	-																															tcagcagcatggtccaggcgCtcctgaggaggaggctggga																										TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:54678123_54678125delCTC	ENST00000245615.1	-	8	1512_1514	c.1032_1034delGAG	c.(1030-1035)cggagc>cgc	p.S345del	MBOAT7_ENST00000338624.6_Splice_Site_p.S272del|MBOAT7_ENST00000431666.2_Splice_Site_p.S272del|TMC4_ENST00000301187.4_5'Flank|TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000376591.4_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	345				S -> T (in Ref. 6; AAB37433). {ECO:0000305}.	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)					GGTCCAGGCGCTCCTGAGGAGGA	0.685																																					NSCLC(97;826 2151 10470 22540)												0																																										SO:0001630	splice_region_variant	0			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.1032-1GAG>-	19.37:g.54678123_54678125delCTC			A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	In_Frame_Del	DEL	pfam_MBOAT_fam	p.S345in_frame_del	ENST00000245615.1	37	c.1034_1032	CCDS12883.1	19																																																																																			MBOAT7	-	pfam_MBOAT_fam	ENSG00000125505		0.685	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1		0	51	0	CTC	NM_024298	In_Frame_Del	54678125	-1	tier1		no_errors	ENST00000245615	ensembl	human	known	74_37	in_frame_del	27.27	56	21	DEL	1.000:1.000:1.000	-	-	54678125	CTC	-	54678123	8	5	179	1	0	1	0	1	0	0	1	0	9396	797	28	0	388	0	MBOAT7	19	54678123	Splice_Site	DEL	CTC	TCGA-XP-A8T7-01A-11D-A36J-09	884757	54678123	4450860	205	44640											
PTPRH	5794	genome.wustl.edu	37	chr19	55708723	55708723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtctccaggggccttccaCcacagcatgactgagttctt	7	10	11	13	0	2	2	0	2	2	0	4	2	3	2	4	3	1	2	4	3	0	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:55708723C>A	ENST00000376350.3	-	9	1774	c.1752G>T	c.(1750-1752)tgG>tgT	p.W584C	PTPRH_ENST00000263434.5_Missense_Mutation_p.W406C|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	584	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGGCCTTCCACCACAGCATGA	0.552																																																	0													70	73	72					19																	55708723		2203	4300	6503	SO:0001583	missense	0				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.1752G>T	19.37:g.55708723C>A	ENSP00000365528:p.Trp584Cys		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.W584C	ENST00000376350.3	37	c.1752	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	8.356	0.831907	0.16820	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.56941	0.43;0.43	5.18	-1.6	0.08426	Fibronectin, type III (4);Immunoglobulin-like fold (1);	2.685280	0.01609	N	0.022436	T	0.42988	0.1227	L	0.36672	1.1	0.24623	N	0.993665	B;B;B	0.10296	0.001;0.0;0.003	B;B;B	0.14023	0.01;0.006;0.006	T	0.37731	-0.9693	10	0.56958	D	0.05	.	6.0569	0.19816	0.0:0.3479:0.4637:0.1884	.	406;406;584	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	C	584;406	ENSP00000365528:W584C;ENSP00000263434:W406C	ENSP00000263434:W406C	W	-	3	0	PTPRH	60400535	0.000000	0.05858	0.046000	0.18839	0.018000	0.09664	-2.848000	0.00733	-0.014000	0.14175	-0.136000	0.14681	TGG	PTPRH	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080031		0.552	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	-	0	65	0	C			55708723	-1	tier1	-	no_errors	ENST00000376350	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.032	A	A	55708723	C	A	55708723	3	1	179	1	0	0	0	0	1	0	0	0	12848	508	18	3	1643	3	PTPRH	19	55708723	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	1030600	55708723	3420260	206	44641											
ZNF256	10172	genome.wustl.edu	37	chr19	58453931	58453931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttctggggagaaggaaggGccttaggaatcctaacctgt	10	10	13	8	0	2	1	0	0	2	1	3	4	3	3	3	5	1	0	3	5	5	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr19:58453931G>T	ENST00000282308.3	-	3	441	c.245C>A	c.(244-246)gCc>gAc	p.A82D	ZNF256_ENST00000598928.1_Missense_Mutation_p.P40T	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	82	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)		AGAAGGAAGGGCCTTAGGAAT	0.512																																					NSCLC(55;1313 1552 8040 11996)												0													132	129	130					19																	58453931		2203	4300	6503	SO:0001583	missense	0			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.245C>A	19.37:g.58453931G>T	ENSP00000282308:p.Ala82Asp		B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A82D	ENST00000282308.3	37	c.245	CCDS12966.1	19	.	.	.	.	.	.	.	.	.	.	.	13.77	2.335309	0.41398	.	.	ENSG00000152454	ENST00000282308	T	0.07800	3.16	2.86	-0.766	0.11020	Krueppel-associated box (1);	.	.	.	.	T	0.04227	0.0117	N	0.24115	0.695	0.09310	N	1	P	0.36010	0.532	B	0.33846	0.171	T	0.37033	-0.9723	9	0.33141	T	0.24	.	1.241	0.01963	0.1265:0.1951:0.3145:0.3639	.	82	Q9Y2P7	ZN256_HUMAN	D	82	ENSP00000282308:A82D	ENSP00000282308:A82D	A	-	2	0	ZNF256	63145743	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	0.021000	0.13489	-0.055000	0.13244	0.467000	0.42956	GCC	ZNF256	-	pfscan_Krueppel-associated_box	ENSG00000152454		0.512	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF256	HGNC	protein_coding	OTTHUMT00000466702.1		0	63	0	G			58453931	-1			no_errors	ENST00000282308	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T	T	58453931	G	T	58453931	3	4	179	1	0	0	0	0	1	0	0	0	17847	1203	42	3	1642	3	ZNF256	19	58453931	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	2745208	58453931	675052	207	44642											
PLCB4	5332	genome.wustl.edu	37	chr20	9352984	9352984	+	Frame_Shift_Del	DEL	A	A	-																															gcccacagcattttcttatgAaaagttctatgaactgacac																										TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr20:9352984delA	ENST00000378493.1	+	8	635	c.620delA	c.(619-621)gaafs	p.E207fs	PLCB4_ENST00000378473.3_Frame_Shift_Del_p.E207fs|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Frame_Shift_Del_p.E207fs|PLCB4_ENST00000278655.4_Frame_Shift_Del_p.E207fs|PLCB4_ENST00000334005.3_Frame_Shift_Del_p.E207fs|PLCB4_ENST00000414679.2_Frame_Shift_Del_p.E207fs			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	207					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						TTTTCTTATGAAAAGTTCTAT	0.348																																																	0													78	79	79					20																	9352984		2202	4300	6502	SO:0001589	frameshift_variant	0				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.620delA	20.37:g.9352984delA	ENSP00000367754:p.Glu207fs		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Frame_Shift_Del	DEL	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.K208fs	ENST00000378493.1	37	c.620	CCDS13105.1	20																																																																																			PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.348	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2		0	43	0	A			9352984	1	tier1		no_errors	ENST00000334005	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	1.000	-	-	9352984	A	-	9352984	7	5	179	1	0	1	0	1	0	0	0	0	12069	246	9	0	650	0	PLCB4	20	9352984	Frame_Shift_Del	DEL	A	TCGA-XP-A8T7-01A-11D-A36J-09		9352984	53672536	208	44643											
OVOL2	58495	genome.wustl.edu	37	chr20	18005451	18005451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtggggcccgtgtagccGcaatcctcgcagacgtagag	7	7	16	11	4	0	2	0	0	0	2	2	2	1	2	3	3	1	4	3	3	3	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr20:18005451G>A	ENST00000278780.6	-	4	899	c.657C>T	c.(655-657)tgC>tgT	p.C219C	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	219					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						CCGTGTAGCCGCAATCCTCGC	0.577																																																	0													69	63	65					20																	18005451		2203	4300	6503	SO:0001819	synonymous_variant	0			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.657C>T	20.37:g.18005451G>A			Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C219	ENST00000278780.6	37	c.657	CCDS13132.1	20																																																																																			OVOL2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125850		0.577	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL2	HGNC	protein_coding	OTTHUMT00000078148.5		0	33	0	G	NM_021220		18005451	-1			no_errors	ENST00000278780	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.351	A	A	18005451	G	A	18005451	2	1	179	1	0	0	0	0	0	0	0	1	11366	1079	38	1		1	OVOL2	20	18005451	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	8652467	18005451	45020069	209	44644											
BPIL1	80341	genome.wustl.edu	37	chr20	31600673	31600673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattgctggtttcggagtgCgcctgctggcagcagctaat	6	12	13	10	2	1	0	1	0	0	0	2	1	1	1	1	3	5	6	1	3	1	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr20:31600673C>T	ENST00000170150.3	+	4	463	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	90						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TTTCGGAGTGCGCCTGCTGGC	0.542																																																	0													164	156	159					20																	31600673		2203	4300	6503	SO:0001583	missense	0			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.268C>T	20.37:g.31600673C>T	ENSP00000170150:p.Arg90Cys		Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.R90C	ENST00000170150.3	37	c.268	CCDS13210.1	20	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088930	0.55968	.	.	ENSG00000078898	ENST00000170150	T	0.04862	3.54	4.41	4.41	0.53225	.	0.503853	0.16456	N	0.213611	T	0.12008	0.0292	L	0.32530	0.975	0.09310	N	1	D	0.69078	0.997	P	0.58077	0.832	T	0.12091	-1.0561	10	0.39692	T	0.17	-5.3275	12.682	0.56926	0.0:1.0:0.0:0.0	.	90	Q8N4F0	BPIB2_HUMAN	C	90	ENSP00000170150:R90C	ENSP00000170150:R90C	R	+	1	0	BPIFB2	31064334	0.004000	0.15560	0.005000	0.12908	0.007000	0.05969	2.071000	0.41500	2.451000	0.82905	0.655000	0.94253	CGC	BPIFB2	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000078898		0.542	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	HGNC	protein_coding	OTTHUMT00000078652.2	-	0	72	0	C	NM_025227		31600673	1	tier1	-	no_errors	ENST00000170150	ensembl	human	known	74_37	missense	45.95	40	34	SNP	0.007	T	T	31600673	C	T	31600673	3	4	179	1	0	0	0	0	1	0	0	0	1495	768	27	1	278	1	BPIL1	20	31600673	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	13595222	31600673	31424847	210	44645											
STX16	8675	genome.wustl.edu	37	chr20	57227095	57227095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtttaaccgacgctttcttGttgttgcggaataattccat	8	16	8	9	4	1	0	0	0	1	0	2	2	2	1	2	1	2	4	2	1	3	8			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr20:57227095G>T	ENST00000371141.4	+	1	757	c.33G>T	c.(31-33)ttG>ttT	p.L11F	STX16_ENST00000358029.4_Missense_Mutation_p.L11F|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.L11F|STX16_ENST00000355957.5_Missense_Mutation_p.L11F|STX16_ENST00000359617.4_Intron|STX16_ENST00000361830.3_Missense_Mutation_p.L11F|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000371132.4_Missense_Mutation_p.L11F|STX16_ENST00000361770.5_Missense_Mutation_p.L11F	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	11					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			ACGCTTTCTTGTTGTTGCGGA	0.537																																																	0													106	100	102					20																	57227095		2203	4300	6503	SO:0001583	missense	0			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.33G>T	20.37:g.57227095G>T	ENSP00000360183:p.Leu11Phe		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L11F	ENST00000371141.4	37	c.33	CCDS13468.1	20	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411653	0.62399	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000371141;ENST00000371132;ENST00000358029;ENST00000361830	T;T;T;T;T;T	0.53640	0.71;0.75;0.71;0.64;0.61;0.68	4.81	4.81	0.61882	.	0.000000	0.64402	U	0.000015	T	0.45597	0.1350	L	0.56769	1.78	0.80722	D	1	B;B;B;B	0.31752	0.223;0.105;0.338;0.125	B;B;B;B	0.36418	0.093;0.191;0.168;0.224	T	0.43114	-0.9411	10	0.40728	T	0.16	.	10.6291	0.45525	0.0864:0.0:0.9136:0.0	.	11;11;11;11	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	F	11	ENSP00000348229:L11F;ENSP00000355408:L11F;ENSP00000360183:L11F;ENSP00000360173:L11F;ENSP00000350723:L11F;ENSP00000354445:L11F	ENSP00000432101:L11F	L	+	3	2	STX16	56660501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.671000	0.68095	2.492000	0.84095	0.655000	0.94253	TTG	STX16-NPEPL1	-	NULL	ENSG00000254995		0.537	STX16-002	KNOWN	basic|CCDS	protein_coding	STX16-NPEPL1	HGNC	protein_coding	OTTHUMT00000080517.2	-	0	47	0	G	NM_001001433		57227095	1	tier1	-	no_errors	ENST00000530122	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	57227095	G	T	57227095	3	4	179	1	0	0	0	0	1	0	0	0	15386	1368	48	3	35	3	STX16	20	57227095	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	25626422	57227095	5798425	211	44646											
TTC3	7267	genome.wustl.edu	37	chr21	38467744	38467744	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccagagccattgaatataGgtaagagcaaatagaacaaa	20	6	8	7	0	0	4	0	1	0	3	0	4	0	4	2	1	3	2	2	1	8	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr21:38467744G>T	ENST00000399017.2	+	9	3529	c.782G>T	c.(781-783)aGa>aTa	p.R261I	TTC3_ENST00000399010.1_Splice_Site_p.R261I|TTC3_ENST00000355666.1_Splice_Site_p.R261I|TTC3_ENST00000354749.2_Splice_Site_p.R261I|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Intron	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	261					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)				ATTGAATATAGGTAAGAGCAA	0.333																																					Ovarian(38;194 1649 35661)												0													60	65	63					21																	38467744		2203	4299	6502	SO:0001630	splice_region_variant	0			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.782+1G>T	21.37:g.38467744G>T			A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.R261I	ENST00000399017.2	37	c.782	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838145	0.50951	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.59906	1.22;1.22;1.22;0.23;0.23;0.23;0.23	5.34	5.34	0.76211	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.432661	0.21160	N	0.079163	T	0.52741	0.1753	N	0.04018	-0.295	0.80722	D	1	D	0.58970	0.984	P	0.58331	0.837	T	0.63721	-0.6573	10	0.62326	D	0.03	-14.2008	16.3342	0.83052	0.0:0.0:1.0:0.0	.	261	P53804	TTC3_HUMAN	I	261;261;243;261;261;261;261	ENSP00000403943:R261I;ENSP00000408456:R261I;ENSP00000391891:R243I;ENSP00000347889:R261I;ENSP00000381974:R261I;ENSP00000381981:R261I;ENSP00000346791:R261I	ENSP00000346791:R261I	R	+	2	0	TTC3	37389614	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.339000	0.65953	2.673000	0.90976	0.650000	0.86243	AGA	TTC3	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000182670		0.333	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1		0	52	0	G		Missense_Mutation	38467744	1			no_errors	ENST00000354749	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	38467744	G	T	38467744	5	4	179	1	0	0	0	0	0	0	1	0	16746	1014	35	3	812	3	TTC3	21	38467744	Splice_Site	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09		38467744	9662151	212	44647											
SLC19A1	6573	genome.wustl.edu	37	chr21	46957744	46957744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgatgaagctctcccCtggccgtatctgcgccatga	6	9	14	12	2	2	3	0	3	2	0	3	3	2	3	4	3	2	2	4	3	2	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr21:46957744C>A	ENST00000311124.4	-	2	282	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	SLC19A1_ENST00000380010.4_Missense_Mutation_p.G44W|SLC19A1_ENST00000567670.1_Missense_Mutation_p.G44W	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	44					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)	AAGCTCTCCCCTGGCCGTATC	0.687																																																	0													43	30	34					21																	46957744		2198	4298	6496	SO:0001583	missense	0			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.130G>T	21.37:g.46957744C>A	ENSP00000308895:p.Gly44Trp		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.G44W	ENST00000311124.4	37	c.130	CCDS13725.1	21	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032706	0.75504	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000427839;ENST00000443742;ENST00000528477	T;T;T;T;D	0.86297	-1.45;-1.45;0.27;0.27;-2.1	3.85	3.85	0.44370	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	U	0.000001	D	0.93314	0.7869	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94280	0.7519	10	0.66056	D	0.02	-30.4367	14.7483	0.69505	0.0:1.0:0.0:0.0	.	66;44;44	D3DSM6;E9PFY4;P41440	.;.;S19A1_HUMAN	W	44	ENSP00000308895:G44W;ENSP00000369347:G44W;ENSP00000401850:G44W;ENSP00000411345:G44W;ENSP00000435780:G44W	ENSP00000308895:G44W	G	-	1	0	SLC19A1	45782172	0.996000	0.38824	0.579000	0.28588	0.506000	0.33950	4.480000	0.60243	1.887000	0.54652	0.585000	0.79938	GGG	SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000173638		0.687	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1	-	0	84	0	C			46957744	-1	tier1	-	no_errors	ENST00000311124	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.973	A	A	46957744	C	A	46957744	3	1	179	1	0	0	0	0	1	0	0	0	14473	681	24	3	1665	3	SLC19A1	21	46957744	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	8490000	46957744	1172151	213	44648											
SEZ6L	23544	genome.wustl.edu	37	chr22	26706706	26706706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttcaaaccgagagtgtcCcttttgagggcctgctgagc	7	10	11	13	1	1	3	1	2	0	1	2	4	2	3	4	1	3	1	4	1	1	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr22:26706706C>A	ENST00000248933.6	+	7	1680	c.1585C>A	c.(1585-1587)Cct>Act	p.P529T	SEZ6L_ENST00000402979.1_Missense_Mutation_p.P302T|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P302T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P529T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P529T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P529T|SEZ6L_ENST00000529632.2_Missense_Mutation_p.P529T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	529	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				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						CGAGAGTGTCCCTTTTGAGGG	0.587																																																	0													156	121	133					22																	26706706		2203	4300	6503	SO:0001583	missense	0			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.1585C>A	22.37:g.26706706C>A	ENSP00000248933:p.Pro529Thr		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P529T	ENST00000248933.6	37	c.1585	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843340	0.71488	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.04	5.04	0.67666	CUB (5);	0.000000	0.56097	D	0.000029	T	0.63010	0.2475	M	0.79123	2.44	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;0.999;0.999;1.0;1.0	T	0.67821	-0.5571	10	0.87932	D	0	.	17.7618	0.88466	0.0:1.0:0.0:0.0	.	529;529;302;529;529;529;529	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	T	529;529;529;529;529;302;302	ENSP00000384772:P529T;ENSP00000437037:P529T;ENSP00000354185:P529T;ENSP00000248933:P529T;ENSP00000342661:P529T;ENSP00000384838:P302T;ENSP00000384733:P302T	ENSP00000248933:P529T	P	+	1	0	SEZ6L	25036706	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	7.164000	0.77533	2.507000	0.84556	0.561000	0.74099	CCT	SEZ6L	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000100095		0.587	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	-	0	33	0	C			26706706	1	tier1	-	no_errors	ENST00000248933	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	A	A	26706706	C	A	26706706	3	1	179	1	0	0	0	0	1	0	0	0	14188	623	22	3	1611	3	SEZ6L	22	26706706	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09		26706706	24597860	214	44649											
UPK3A	7380	genome.wustl.edu	37	chr22	45684984	45684984	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtccacgggcttggtagaGgaccagaccctgtggtcaga	9	8	14	10	1	1	3	1	0	0	3	2	4	2	4	3	4	0	2	3	4	1	2			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr22:45684984G>C	ENST00000216211.4	+	4	563	c.531G>C	c.(529-531)gaG>gaC	p.E177D	UPK3A_ENST00000396082.2_Intron	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	177					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)		GCTTGGTAGAGGACCAGACCC	0.607																																																	0													91	84	86					22																	45684984		2203	4300	6503	SO:0001583	missense	0			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.531G>C	22.37:g.45684984G>C	ENSP00000216211:p.Glu177Asp		B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	NULL	p.E177D	ENST00000216211.4	37	c.531	CCDS14064.1	22	.	.	.	.	.	.	.	.	.	.	g	9.204	1.029290	0.19512	.	.	ENSG00000100373	ENST00000216211	T	0.64260	-0.09	4.82	2.66	0.31614	.	1.813340	0.02848	N	0.128720	T	0.47911	0.1471	N	0.22421	0.69	0.80722	D	1	B	0.19817	0.039	B	0.18871	0.023	T	0.22034	-1.0228	10	0.15952	T	0.53	-6.764	6.4513	0.21906	0.0951:0.0:0.7299:0.175	.	177	O75631	UPK3A_HUMAN	D	177	ENSP00000216211:E177D	ENSP00000216211:E177D	E	+	3	2	UPK3A	44063648	0.983000	0.35010	0.918000	0.36340	0.746000	0.42486	0.551000	0.23361	0.405000	0.25532	-0.785000	0.03343	GAG	UPK3A	-	NULL	ENSG00000100373		0.607	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UPK3A	HGNC	protein_coding	OTTHUMT00000322276.1	-	0	30	0	G	NM_006953		45684984	1	tier1	-	no_errors	ENST00000216211	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.943	C	C	45684984	G	C	45684984	3	2	179	1	0	0	0	0	1	0	0	0	17059	991	35	5	545	5	UPK3A	22	45684984	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	18978278	45684984	5619582	215	44650											
ATXN10	25814	genome.wustl.edu	37	chr22	46098707	46098707	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatagatgcttaccaaaaAcatcctgaatcagaatggcc	15	9	7	10	0	2	3	2	1	0	2	3	3	3	3	3	1	3	1	3	1	6	2	rs577007698		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chr22:46098707A>T	ENST00000252934.5	+	5	892	c.627A>T	c.(625-627)aaA>aaT	p.K209N	ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Missense_Mutation_p.K145N	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	209					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTTACCAAAAACATCCTGAAT	0.353																																																	0													101	99	100					22																	46098707		2203	4300	6503	SO:0001583	missense	0			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"Ataxins"	10549	protein-coding gene	gene with protein product		611150	"spinocerebellar ataxia 10"	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.627A>T	22.37:g.46098707A>T	ENSP00000252934:p.Lys209Asn		A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	pfam_Ataxin-10_domain,superfamily_ARM-type_fold	p.K209N	ENST00000252934.5	37	c.627	CCDS14070.1	22	.	.	.	.	.	.	.	.	.	.	A	13.96	2.394373	0.42410	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011	T;T	0.51071	0.72;0.72	5.99	2.55	0.30701	Armadillo-type fold (1);	0.257134	0.44285	D	0.000467	T	0.37073	0.0990	M	0.61703	1.905	0.32476	N	0.542103	B;B	0.28128	0.032;0.201	B;B	0.24155	0.038;0.051	T	0.40683	-0.9550	10	0.33141	T	0.24	-6.4433	4.4074	0.11416	0.3111:0.1674:0.5215:0.0	.	145;209	A6NLC4;Q9UBB4	.;ATX10_HUMAN	N	145;209;209	ENSP00000370449:K145N;ENSP00000252934:K209N	ENSP00000252934:K209N	K	+	3	2	ATXN10	44477371	0.750000	0.28316	0.914000	0.36105	0.772000	0.43724	0.694000	0.25512	1.520000	0.48965	-0.242000	0.12053	AAA	ATXN10	-	superfamily_ARM-type_fold	ENSG00000130638		0.353	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN10	HGNC	protein_coding	OTTHUMT00000318142.2	-	0	80	0	A	NM_013236		46098707	1	tier1	-	no_errors	ENST00000252934	ensembl	human	known	74_37	missense	28.95	54	22	SNP	0.572	T	T	46098707	A	T	46098707	3	4	179	1	0	0	0	0	1	0	0	0	1211	40	2	5	645	5	ATXN10	22	46098707	Missense_Mutation	SNP	A	TCGA-XP-A8T7-01A-11D-A36J-09	413723	46098707	5205859	216	44651											
DCAF8L2	347442	genome.wustl.edu	37	chrX	27766027	27766027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataagttcctcacttcaggtGaagatgctgttgtcttcacc	9	14	8	10	0	4	2	3	1	1	1	5	2	5	2	2	1	1	3	2	1	2	5			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:27766027G>A	ENST00000451261.2	+	5	1414	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	339										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CACTTCAGGTGAAGATGCTGT	0.453																																																	0													86	61	69					X																	27766027		692	1591	2283	SO:0001583	missense	0				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.1015G>A	X.37:g.27766027G>A	ENSP00000462745:p.Glu339Lys		B2RXH9|J3KT06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E339K	ENST00000451261.2	37	c.1015	CCDS59162.1	X																																																																																			DCAF8L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000189186		0.453	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	-	0	49	0	G	XM_293354		27766027	1	tier1	-	no_errors	ENST00000451261	ensembl	human	known	74_37	missense	27.08	35	13	SNP	1.000	A	A	27766027	G	A	27766027	3	1	179	1	0	0	0	0	1	0	0	0	4287	1291	45	3	1017	3	DCAF8L2	23	27766027	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09		27766027	127504533	217	44652											
UBA1	7317	genome.wustl.edu	37	chrX	47072572	47072572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctgaaccccttgccgcaccaCgtcaccaggtgggggcctgc	6	6	12	17	2	1	1	1	1	0	0	1	1	1	1	6	3	3	1	6	3	1	1			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:47072572C>T	ENST00000335972.6	+	23	3013	c.2830C>T	c.(2830-2832)Cgt>Tgt	p.R944C	UBA1_ENST00000377269.3_Missense_Mutation_p.R392C|UBA1_ENST00000377351.4_Missense_Mutation_p.R944C	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	944					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						TGCCGCACCACGTCACCAGGT	0.557																																																	0													52	41	45					X																	47072572		2203	4300	6503	SO:0001583	missense	0			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.2830C>T	X.37:g.47072572C>T	ENSP00000338413:p.Arg944Cys		Q5JRR8|Q96E13	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.R944C	ENST00000335972.6	37	c.2830	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773974	0.49786	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.46451	0.87;0.87;1.43	5.34	5.34	0.76211	Ubiquitin-activating enzyme e1, C-terminal (1);	0.272302	0.35525	N	0.003142	T	0.27063	0.0663	N	0.15975	0.35	0.46061	D	0.998842	B;B	0.19331	0.035;0.005	B;B	0.18561	0.022;0.007	T	0.08371	-1.0725	10	0.62326	D	0.03	-6.005	10.8937	0.47010	0.3058:0.6942:0.0:0.0	.	392;944	Q5JRR6;P22314	.;UBA1_HUMAN	C	944;944;392	ENSP00000366568:R944C;ENSP00000338413:R944C;ENSP00000366481:R392C	ENSP00000338413:R944C	R	+	1	0	UBA1	46957516	0.993000	0.37304	0.997000	0.53966	0.989000	0.77384	3.833000	0.55790	2.398000	0.81561	0.529000	0.55759	CGT	UBA1	-	pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.557	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1		0	15	0	C	NM_003334		47072572	1			no_errors	ENST00000335972	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.999	T	T	47072572	C	T	47072572	3	4	179	1	0	0	0	0	1	0	0	0	16876	536	19	1	2916	1	UBA1	23	47072572	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	19306545	47072572	108197988	218	44653											
TRO	7216	genome.wustl.edu	37	chrX	54953052	54953052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcaagttggggctgcGccctgggtatgactgggctc	4	9	17	11	2	0	1	0	1	0	0	1	1	0	1	1	4	2	6	1	4	2	2	rs201094980		TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:54953052G>A	ENST00000173898.7	+	9	1806	c.1694G>A	c.(1693-1695)cGc>cAc	p.R565H	TRO_ENST00000420798.2_Missense_Mutation_p.R96H|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Missense_Mutation_p.R168H|TRO_ENST00000375022.4_Missense_Mutation_p.R565H|TRO_ENST00000399736.1_Missense_Mutation_p.R168H|TRO_ENST00000319167.8_Missense_Mutation_p.R565H	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	565	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				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						TTGGGGCTGCGCCCTGGGTAT	0.577																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	136	124	128		1694,1694,1694	-6.2	0	X		128	1,6727		0,1,2427,1872	no	missense,missense,missense	TRO	NM_177556.1,NM_016157.2,NM_001039705.1	29,29,29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign,benign	565/707,565/707,565/1432	54953052	1,10562	2203	4300	6503	SO:0001583	missense	0			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.1694G>A	X.37:g.54953052G>A	ENSP00000173898:p.Arg565His		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R565H	ENST00000173898.7	37	c.1694	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.052769	0.00394	0.0	1.49E-4	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64;3.64	3.08	-6.17	0.02091	.	.	.	.	.	T	0.04363	0.0120	L	0.39514	1.22	0.09310	N	1	B;B;B;B	0.17268	0.001;0.015;0.021;0.001	B;B;B;B	0.18263	0.001;0.015;0.021;0.001	T	0.41052	-0.9530	9	0.13470	T	0.59	.	13.9641	0.64199	0.6143:0.0:0.3857:0.0	.	168;168;565;565	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	H	565;565;565;168;168;96;168	ENSP00000173898:R565H;ENSP00000318278:R565H;ENSP00000364162:R565H;ENSP00000382641:R168H;ENSP00000405126:R96H;ENSP00000364181:R168H	ENSP00000173898:R565H	R	+	2	0	TRO	54969777	0.004000	0.15560	0.048000	0.18961	0.500000	0.33767	-1.074000	0.03427	-3.091000	0.00247	-2.200000	0.00306	CGC	TRO	-	pfam_MAGE,pfscan_MAGE	ENSG00000067445		0.577	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	-	0	80	0	G	NM_016157		54953052	1	tier1	rs201094980	no_errors	ENST00000173898	ensembl	human	known	74_37	missense	48.39	47	45	SNP	0.069	A	A	54953052	G	A	54953052	3	1	179	1	0	0	0	0	1	0	0	0	16622	1087	38	1	1724	1	TRO	23	54953052	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	7880480	54953052	100317508	219	44654											
APEX2	27301	genome.wustl.edu	37	chrX	55033867	55033867	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctggagcaggcccagctGaaccaatggaggcctgggga	9	5	15	12	0	1	1	0	1	1	0	1	4	1	4	4	6	3	2	4	6	2	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:55033867G>A	ENST00000374987.3	+	6	1622	c.1556G>A	c.(1555-1557)tGa>tAa	p.*519*	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	0					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						AGGCCCAGCTGAACCAATGGA	0.637								Other BER factors																																									0													11	8	9					X																	55033867		2186	4229	6415	SO:0001819	synonymous_variant	0			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.1556G>A	X.37:g.55033867G>A			Q9Y5X7	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1	p.*519	ENST00000374987.3	37	c.1556	CCDS14365.1	X																																																																																			APEX2	-	NULL	ENSG00000169188		0.637	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX2	HGNC	protein_coding	OTTHUMT00000056845.1	-	0	61	0	G			55033867	1	tier1	-	no_errors	ENST00000374987	ensembl	human	known	74_37	silent	56.41	17	22	SNP	0.301	A	A	55033867	G	A	55033867	2	1	179	1	0	0	0	0	0	0	0	1	770	1285	45	3		3	APEX2	23	55033867	Silent	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	80815	55033867	100236693	220	44655											
ACRC	93953	genome.wustl.edu	37	chrX	70823523	70823523	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgacaatgacgatgacaaCggtaatgatttggaagttcc	14	10	11	6	2	0	4	0	4	0	0	1	7	1	5	1	2	1	2	1	2	4	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:70823523C>T	ENST00000373695.1	+	7	933	c.396C>T	c.(394-396)aaC>aaT	p.N132N	ACRC_ENST00000373696.3_Silent_p.N132N			Q96QF7	ACRC_HUMAN	acidic repeat containing	132	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ACGATGACAACGGTAATGATT	0.453																																																	0													196	174	181					X																	70823523		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.396C>T	X.37:g.70823523C>T			B9EG62	Silent	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.N132	ENST00000373695.1	37	c.396	CCDS35326.1	X																																																																																			ACRC	-	NULL	ENSG00000147174		0.453	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	-	0	137	0	C			70823523	1	tier1	-	no_errors	ENST00000373695	ensembl	human	known	74_37	silent	26.83	60	22	SNP	0.000	T	T	70823523	C	T	70823523	2	4	179	1	0	0	0	0	0	0	0	1	171	535	19	1		1	ACRC	23	70823523	Silent	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	15789656	70823523	84447037	221	44656											
TCEAL4	79921	genome.wustl.edu	37	chrX	102841918	102841918	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aagccagagagtgaaggagaGccagggagtgaaacaagggc	16	2	17	6	0	0	4	0	2	0	2	0	7	0	5	2	3	3	0	2	3	4	0			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:102841918G>T	ENST00000472745.1	+	3	867	c.315G>T	c.(313-315)gaG>gaT	p.E105D	TCEAL4_ENST00000415568.2_Missense_Mutation_p.E105D|TCEAL4_ENST00000468024.1_Missense_Mutation_p.E105D|TCEAL4_ENST00000472484.1_Missense_Mutation_p.E105D|TCEAL4_ENST00000372629.4_Missense_Mutation_p.E248D|TCEAL4_ENST00000494801.1_Missense_Mutation_p.E105D			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	105	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						gtgaaggagagCCAGGGAGTG	0.512																																																	0													61	61	61					X																	102841918		2203	4300	6503	SO:0001583	missense	0			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.315G>T	X.37:g.102841918G>T	ENSP00000424314:p.Glu105Asp		Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.E248D	ENST00000472745.1	37	c.744	CCDS14510.2	X	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921531	0.33908	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000472745;ENST00000494801;ENST00000469586	T;T;T;T;T;T;T	0.25749	2.9;1.78;1.78;1.78;1.78;1.78;1.84	3.99	-0.0198	0.13958	.	1.110310	0.07154	N	0.849622	T	0.18593	0.0446	L	0.44542	1.39	0.09310	N	1	B	0.25441	0.126	B	0.25506	0.061	T	0.32929	-0.9888	10	0.23891	T	0.37	.	3.0525	0.06174	0.2247:0.0:0.3769:0.3984	.	105	Q96EI5	TCAL4_HUMAN	D	248;105;105;105;76;105;105;105	ENSP00000361712:E248D;ENSP00000421857:E105D;ENSP00000421156:E105D;ENSP00000415564:E105D;ENSP00000424314:E105D;ENSP00000427494:E105D;ENSP00000427053:E105D	ENSP00000361712:E248D	E	+	3	2	TCEAL4	102728574	0.046000	0.20272	0.197000	0.23402	0.130000	0.20726	-0.539000	0.06113	-0.119000	0.11830	0.432000	0.28606	GAG	TCEAL4	-	pfam_TF_A-like/BEX-like	ENSG00000133142		0.512	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCEAL4	HGNC	protein_coding	OTTHUMT00000252339.2		0	45	0	G	NM_024863		102841918	1			no_errors	ENST00000372629	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.174	T	T	102841918	G	T	102841918	3	4	179	1	0	0	0	0	1	0	0	0	15720	962	34	3	317	3	TCEAL4	23	102841918	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	32018395	102841918	52428642	222	44657											
SLC9A6	10479	genome.wustl.edu	37	chrX	135106542	135106542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgagatactgccacttatGcacggcaaatgatgttcagc	11	11	9	10	2	1	2	1	1	0	1	2	3	1	2	1	1	4	3	1	1	3	4			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:135106542G>T	ENST00000370698.3	+	12	1455	c.1420G>T	c.(1420-1422)Gca>Tca	p.A474S	SLC9A6_ENST00000370701.1_Missense_Mutation_p.A454S|SLC9A6_ENST00000370695.4_Missense_Mutation_p.A506S	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	474					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCCACTTATGCACGGCAAAT	0.463																																																	0													303	205	238					X																	135106542		2203	4300	6503	SO:0001583	missense	0			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1420G>T	X.37:g.135106542G>T	ENSP00000359732:p.Ala474Ser		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A506S	ENST00000370698.3	37	c.1516	CCDS14654.1	X	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143360	0.57044	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.31510	1.49;1.49;1.49	5.28	5.28	0.74379	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	L	0.35723	1.085	0.80722	D	1	B;B	0.19935	0.03;0.04	B;B	0.27608	0.03;0.081	T	0.04427	-1.0952	10	0.37606	T	0.19	.	16.4166	0.83744	0.0:0.0:1.0:0.0	.	506;474	Q92581-2;Q92581	.;SL9A6_HUMAN	S	454;474;506	ENSP00000359735:A454S;ENSP00000359732:A474S;ENSP00000359729:A506S	ENSP00000359729:A506S	A	+	1	0	SLC9A6	134934208	1.000000	0.71417	0.151000	0.22473	0.971000	0.66376	7.646000	0.83445	2.180000	0.69256	0.600000	0.82982	GCA	SLC9A6	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000198689		0.463	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	-	0	52	0	G	NM_006359		135106542	1	tier1	-	no_errors	ENST00000370695	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	135106542	G	T	135106542	3	4	179	1	0	0	0	0	1	0	0	0	14763	1319	46	3	1562	3	SLC9A6	23	135106542	Missense_Mutation	SNP	G	TCGA-XP-A8T7-01A-11D-A36J-09	32264624	135106542	20164018	223	44658											
MAGEA6	4105	genome.wustl.edu	37	chrX	151870172	151870172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagctatgtgaaagtcctgCaccatatggtaaagatcagt	13	10	9	9	0	1	2	1	1	0	1	2	2	2	2	3	1	2	3	3	1	5	3			TCGA-XP-A8T7-01A-11D-A36J-09	TCGA-XP-A8T7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35fd4c01-79ab-450d-b5eb-4a80db5db0b1	35131809-a117-4f38-b90f-8f0fe1c03561	g.chrX:151870172C>A	ENST00000329342.5	+	3	1087	c.862C>A	c.(862-864)Cac>Aac	p.H288N		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	288	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAGTCCTGCACCATATGGT	0.552																																																	0													161	153	156					X																	151870172		2202	4299	6501	SO:0001583	missense	0				CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.862C>A	X.37:g.151870172C>A	ENSP00000329199:p.His288Asn		A8IF93|Q6NW44	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.H288N	ENST00000329342.5	37	c.862	CCDS14708.1	X	.	.	.	.	.	.	.	.	.	.	c	0.405	-0.916511	0.02415	.	.	ENSG00000197172	ENST00000329342	T	0.01527	4.8	0.879	-1.76	0.08006	.	.	.	.	.	T	0.01029	0.0034	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48502	-0.9030	9	0.54805	T	0.06	.	0.3417	0.00335	0.2174:0.2405:0.3062:0.2359	.	288	P43360	MAGA6_HUMAN	N	288	ENSP00000329199:H288N	ENSP00000329199:H288N	H	+	1	0	MAGEA6	151620828	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.738000	0.04871	-2.208000	0.00740	-1.111000	0.02071	CAC	MAGEA6	-	pfscan_MAGE	ENSG00000197172		0.552	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA6	HGNC	protein_coding	OTTHUMT00000058747.2	-	0	163	0	C	NM_005363		151870172	1	tier1	-	no_errors	ENST00000329342	ensembl	human	known	74_37	missense	25.98	93	33	SNP	0.000	A	A	151870172	C	A	151870172	3	1	179	1	0	0	0	0	1	0	0	0	9206	710	25	3	864	3	MAGEA6	23	151870172	Missense_Mutation	SNP	C	TCGA-XP-A8T7-01A-11D-A36J-09	16763630	151870172	3400388	224	44659											
WDR8	49856	genome.wustl.edu	37	chr1	3553584	3553584	+	Missense_Mutation	SNP	A	A	G	1	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	ggagctgccaatcactgcagAcgaagatgctcacgtaatct	12	8	10	11	2	3	2	2	0	1	2	3	4	3	3	1	1	4	4	1	1	3	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:3553584A>G	ENST00000270708.7	-	5	564	c.491T>C	c.(490-492)gTc>gCc	p.V164A	WRAP73_ENST00000378322.3_Missense_Mutation_p.V164A	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	164						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ATCACTGCAGACGAAGATGCT	0.562																																																	0													78	64	68					1																	3553584		2203	4298	6501	SO:0001583	missense	0			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.491T>C	1.37:g.3553584A>G	ENSP00000270708:p.Val164Ala		Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.V164A	ENST00000270708.7	37	c.491	CCDS48.1	1	.	.	.	.	.	.	.	.	.	.	A	8.523	0.869210	0.17322	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367;ENST00000419924	T;T;T	0.79141	3.48;-1.24;3.48	4.47	4.47	0.54385	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	N	0.02539	-0.55	0.58432	D	0.999995	B;B;B	0.12630	0.006;0.002;0.001	B;B;B	0.10450	0.005;0.002;0.004	T	0.50783	-0.8787	10	0.21540	T	0.41	-42.6365	13.2339	0.59958	1.0:0.0:0.0:0.0	.	164;164;164	B4DYE9;Q9P2S5;Q5T0D5	.;WRP73_HUMAN;.	A	164	ENSP00000270708:V164A;ENSP00000367573:V164A;ENSP00000416192:V164A	ENSP00000270708:V164A	V	-	2	0	WRAP73	3543444	1.000000	0.71417	0.158000	0.22627	0.665000	0.39181	7.032000	0.76498	1.779000	0.52309	0.533000	0.62120	GTC	WRAP73	-	NULL	ENSG00000116213		0.562	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP73	HGNC	protein_coding	OTTHUMT00000001470.1		0	71	0	A			3553584	-1			no_errors	ENST00000270708	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.995	G	G	3553584	A	G	3553584	3	3	180	1	0	0	0	0	1	0	0	0	17378	275	10	4	923	4	WDR8	1	3553584	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09		3553584	245697037	1	44660											
CCDC27	148870	genome.wustl.edu	37	chr1	3673316	3673316	+	Frame_Shift_Del	DEL	T	T	-																															gggtacctccttcccttcagTaagagcatctgcgagttcga																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:3673316delT	ENST00000294600.2	+	4	657	c.573delT	c.(571-573)agtfs	p.S191fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	191										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTCCCTTCAGTAAGAGCATCT	0.557																																																	0													91	89	90					1																	3673316		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.573delT	1.37:g.3673316delT	ENSP00000294600:p.Ser191fs		Q5TBV3|Q96M50	Frame_Shift_Del	DEL	superfamily_Prefoldin	p.S191fs	ENST00000294600.2	37	c.573	CCDS50.1	1																																																																																			CCDC27	-	NULL	ENSG00000162592		0.557	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1		0	56	0	T	NM_152492		3673316	1	tier1		no_errors	ENST00000294600	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.211	-	-	3673316	T	-	3673316	7	5	180	1	0	1	0	1	0	0	0	0	2808	1635	57	0	587	0	CCDC27	1	3673316	Frame_Shift_Del	DEL	T	TCGA-XP-A8T8-01A-11D-A36J-09	119732	3673316	245577305	2	44661											
SLC45A1	50651	genome.wustl.edu	37	chr1	8386005	8386005	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgctgatggactttagCgccgactcggcggacaaccc	7	8	14	12	4	0	1	0	1	0	0	1	4	0	3	2	4	3	1	2	4	2	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:8386005C>T	ENST00000471889.1	+	4	1003	c.618C>T	c.(616-618)agC>agT	p.S206S	SLC45A1_ENST00000377479.2_Silent_p.S240S|SLC45A1_ENST00000289877.8_Silent_p.S206S|Y_RNA_ENST00000516445.1_RNA			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	206					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)		TGGACTTTAGCGCCGACTCGG	0.652																																																	0													106	96	99					1																	8386005		2203	4300	6503	SO:0001819	synonymous_variant	0			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.618C>T	1.37:g.8386005C>T			Q5VY46|Q5VY49	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S240	ENST00000471889.1	37	c.720	CCDS30577.1	1																																																																																			SLC45A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000162426		0.652	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	-	0	83	0	C			8386005	1	tier1	-	no_errors	ENST00000377479	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.953	T	T	8386005	C	T	8386005	2	4	180	1	0	0	0	0	0	0	0	1	14685	767	27	1		1	SLC45A1	1	8386005	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	4712689	8386005	240864616	3	44662											
HNRNPCL1	343069	genome.wustl.edu	37	chr1	12908030	12908030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgcaattttgccatacttgGaaaagatcgcctccacatcc	11	10	6	14	2	0	1	0	0	0	1	3	2	2	2	5	1	2	1	5	1	4	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:12908030G>A	ENST00000317869.6	-	2	338	c.113C>T	c.(112-114)tCc>tTc	p.S38F		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	38	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					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						GCCATACTTGGAAAAGATCGC	0.468																																																	0													152	142	145					1																	12908030		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.113C>T	1.37:g.12908030G>A	ENSP00000365370:p.Ser38Phe		B2RP44	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.S38F	ENST00000317869.6	37	c.113	CCDS30591.1	1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837741	0.32513	.	.	ENSG00000179172	ENST00000317869	T	0.20069	2.1	1.09	-1.16	0.09678	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.283854	0.28171	U	0.016324	T	0.49660	0.1570	H	0.96720	3.87	0.40789	D	0.98324	D	0.62365	0.991	D	0.65684	0.937	T	0.49597	-0.8923	10	0.87932	D	0	.	5.2202	0.15364	0.4047:0.0:0.5953:0.0	.	38	O60812	HNRCL_HUMAN	F	38	ENSP00000365370:S38F	ENSP00000365370:S38F	S	-	2	0	HNRNPCL1	12830617	1.000000	0.71417	0.006000	0.13384	0.014000	0.08584	3.302000	0.51849	-0.408000	0.07565	0.416000	0.27883	TCC	HNRNPCL1	-	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	ENSG00000179172		0.468	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPCL1	HGNC	protein_coding	OTTHUMT00000005462.1	-	0	375	0	G	NM_001013631		12908030	-1	tier1	-	no_errors	ENST00000317869	ensembl	human	known	74_37	missense	9.58	217	23	SNP	0.998	A	A	12908030	G	A	12908030	3	1	180	1	0	0	0	0	1	0	0	0	7290	1174	41	3	770	3	HNRNPCL1	1	12908030	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	4522025	12908030	236342591	4	44663											
SH2D5	400745	genome.wustl.edu	37	chr1	21050738	21050738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggccttccgactctggcaGctccttctagggcaccaaga	8	8	10	15	2	2	1	0	0	2	1	4	2	4	1	4	3	1	3	4	3	2	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:21050738G>T	ENST00000444387.2	-	7	1034	c.637C>A	c.(637-639)Ctg>Atg	p.L213M	SH2D5_ENST00000375031.1_Missense_Mutation_p.L129M|SH2D5_ENST00000460804.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	213										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-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;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GACTCTGGCAGCTCCTTCTAG	0.652																																																	0													41	48	46					1																	21050738		2030	4187	6217	SO:0001583	missense	0			AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.637C>A	1.37:g.21050738G>T	ENSP00000406026:p.Leu213Met		B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH2	p.L213M	ENST00000444387.2	37	c.637	CCDS44080.1	1	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048029	0.19827	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	4.82	3.83	0.44106	SH2 motif (3);	0.657660	0.14099	N	0.341531	T	0.29190	0.0726	N	0.22421	0.69	0.24853	N	0.992398	B	0.19073	0.033	B	0.15870	0.014	T	0.07927	-1.0747	9	0.33940	T	0.23	.	12.0065	0.53261	0.0:0.0:0.8163:0.1837	.	213	Q6ZV89	SH2D5_HUMAN	M	129;213	.	ENSP00000364171:L129M	L	-	1	2	SH2D5	20923325	0.695000	0.27747	0.989000	0.46669	0.371000	0.29859	1.367000	0.34204	2.522000	0.85027	0.655000	0.94253	CTG	SH2D5	-	NULL	ENSG00000189410		0.652	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D5	HGNC	protein_coding	OTTHUMT00000007455.2	-	0	19	0	G	XM_375698		21050738	-1	tier1	-	no_errors	ENST00000444387	ensembl	human	known	74_37	missense	42.86	4	3	SNP	0.899	T	T	21050738	G	T	21050738	3	4	180	1	0	0	0	0	1	0	0	0	14282	962	34	3	650	3	SH2D5	1	21050738	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	8142708	21050738	228199883	5	44664											
CELA3A	10136	genome.wustl.edu	37	chr1	22332269	22332269	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgtgcatccactctggaaCcgctcgtgtgtggcctgtgg	4	13	13	11	2	1	0	0	0	1	0	3	1	2	1	3	3	2	2	3	3	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:22332269C>T	ENST00000290122.3	+	4	361	c.342C>T	c.(340-342)aaC>aaT	p.N114N	RN7SL768P_ENST00000584415.1_RNA|CELA3A_ENST00000374663.1_Silent_p.N114N	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	114	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACTCTGGAACCGCTCGTGTG	0.587																																																	0													130	116	121					1																	22332269		2199	4300	6499	SO:0001819	synonymous_variant	0			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.342C>T	1.37:g.22332269C>T			B1AQ53|Q9BRW4	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.N114	ENST00000290122.3	37	c.342	CCDS220.1	1																																																																																			CELA3A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000142789		0.587	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3A	HGNC	protein_coding	OTTHUMT00000007791.1	-	0	84	0	C	NM_005747		22332269	1	tier1	-	no_errors	ENST00000290122	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.368	T	T	22332269	C	T	22332269	2	4	180	1	0	0	0	0	0	0	0	1	3220	506	18	3		3	CELA3A	1	22332269	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	1281531	22332269	226918352	6	44665											
COL16A1	1307	genome.wustl.edu	37	chr1	32133200	32133200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcctttctctcccgctgaCccggtgtagccacgctcccc	3	11	7	20	3	2	1	0	1	2	0	6	1	4	1	6	1	1	3	6	1	1	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:32133200C>T	ENST00000373672.3	-	52	3849	c.3333G>A	c.(3331-3333)ggG>ggA	p.G1111G	COL16A1_ENST00000271069.6_Silent_p.G1111G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1111	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTCCCGCTGACCCGGTGTAGC	0.622																																					Colon(143;498 1786 21362 25193 36625)												0													21	26	25					1																	32133200		2132	4252	6384	SO:0001819	synonymous_variant	0			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.3333G>A	1.37:g.32133200C>T			Q16593|Q59F89|Q71RG9	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G1111	ENST00000373672.3	37	c.3333	CCDS41297.1	1																																																																																			COL16A1	-	pfam_Collagen	ENSG00000084636		0.622	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2		0	69	0	C	NM_001856		32133200	-1			no_errors	ENST00000271069	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.006	T	T	32133200	C	T	32133200	2	4	180	1	0	0	0	0	0	0	0	1	3680	494	18	3		3	COL16A1	1	32133200	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	9800931	32133200	217117421	7	44666											
MACF1	23499	genome.wustl.edu	37	chr1	39853455	39853455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagatgaggatggaatcCgggatgagaaggctgggatc	13	6	17	5	1	0	3	0	2	0	2	2	8	1	7	1	5	1	2	1	5	3	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:39853455C>T	ENST00000372915.3	+	57	15043	c.14956C>T	c.(14956-14958)Cgg>Tgg	p.R4986W	MACF1_ENST00000539005.1_Missense_Mutation_p.R2898W|MACF1_ENST00000289893.4_Missense_Mutation_p.R3421W|MACF1_ENST00000567887.1_Missense_Mutation_p.R5018W|MACF1_ENST00000317713.7_Missense_Mutation_p.R2919W|MACF1_ENST00000564288.1_Missense_Mutation_p.R4981W|MACF1_ENST00000361689.2_Missense_Mutation_p.R2919W|MACF1_ENST00000545844.1_Missense_Mutation_p.R2919W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4986					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R2919W(1)|p.R3421W(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGATGGAATCCGGGATGAGAA	0.493																																																	2	Substitution - Missense(2)	large_intestine(2)											62	64	63					1																	39853455		2203	4300	6503	SO:0001583	missense	0			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.14956C>T	1.37:g.39853455C>T	ENSP00000362006:p.Arg4986Trp		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R2919W	ENST00000372915.3	37	c.8755		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.908862|2.908862	0.52439|0.52439	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.52295	.|0.67;0.67;0.67;0.67;0.67;0.67	6.17|6.17	5.26|5.26	0.73747|0.73747	.|.	.|0.000000	.|0.56097	.|D	.|0.000027	T|T	0.62588|0.62588	0.2440|0.2440	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.79784	.|0.993;0.982;0.982	T|T	0.65541|0.65541	-0.6143|-0.6143	5|10	.|0.87932	.|D	.|0	.|.	10.3681|10.3681	0.44038|0.44038	0.1358:0.7979:0.0:0.0663|0.1358:0.7979:0.0:0.0663	.|.	.|4986;2919;2863	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	L|W	2031|2919;4986;2919;2919;2898;3421	.|ENSP00000439537:R2919W;ENSP00000362006:R4986W;ENSP00000354573:R2919W;ENSP00000313438:R2919W;ENSP00000444364:R2898W;ENSP00000289893:R3421W	.|ENSP00000289893:R3421W	P|R	+|+	2|1	0|2	MACF1|MACF1	39626042|39626042	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	2.490000|2.490000	0.45294|0.45294	1.615000|1.615000	0.50252|0.50252	0.655000|0.655000	0.94253|0.94253	CCG|CGG	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.493	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	53	0	C	NM_033044		39853455	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	51.85	13	14	SNP	0.896	T	T	39853455	C	T	39853455	3	4	180	1	0	0	0	0	1	0	0	0	9180	643	23	1	15116	1	MACF1	1	39853455	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	7720255	39853455	209397166	8	44667											
KIAA0494	9813	genome.wustl.edu	37	chr1	47183662	47183662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtcgggaggctcagtgCgaagcaggcggtgactgctt	7	8	17	9	3	1	2	1	2	0	0	2	4	1	3	0	4	3	3	0	4	1	1	rs200133048		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:47183662C>T	ENST00000371933.3	-	1	1074	c.98G>A	c.(97-99)cGc>cAc	p.R33H	EFCAB14_ENST00000544071.1_Missense_Mutation_p.R33H	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	33							calcium ion binding (GO:0005509)										AGGCTCAGTGCGAAGCAGGCG	0.537																																																	0													81	78	79					1																	47183662		2203	4300	6503	SO:0001583	missense	0			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.98G>A	1.37:g.47183662C>T	ENSP00000361001:p.Arg33His		D3DQ23|Q5SXB8	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.R33H	ENST00000371933.3	37	c.98	CCDS30706.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127894	0.77549	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.52057	0.68;1.57	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.64668	-0.6353	10	0.72032	D	0.01	-2.8666	19.1736	0.93590	0.0:1.0:0.0:0.0	.	33;33;33	F5H7K3;B7Z444;O75071	.;.;K0494_HUMAN	H	33	ENSP00000442465:R33H;ENSP00000361001:R33H	ENSP00000361001:R33H	R	-	2	0	KIAA0494	46956249	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.304000	0.72800	2.836000	0.97738	0.655000	0.94253	CGC	EFCAB14	-	NULL	ENSG00000159658		0.537	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB14	HGNC	protein_coding	OTTHUMT00000021931.1		0	47	0	C	NM_014774		47183662	-1			no_errors	ENST00000371933	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	47183662	C	T	47183662	3	4	180	1	0	0	0	0	1	0	0	0	8206	768	27	1	1433	1	KIAA0494	1	47183662	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	7330207	47183662	202066959	9	44668											
ZFYVE9	9372	genome.wustl.edu	37	chr1	52798549	52798549	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagaatgatgatggaaactAtcagacccaggctatcagta	16	8	9	8	0	2	4	2	2	0	2	2	5	2	5	1	2	1	2	1	2	5	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:52798549A>G	ENST00000371591.1	+	13	3679	c.3548A>G	c.(3547-3549)tAt>tGt	p.Y1183C	ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Y1124C|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.Y1183C	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1183					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GATGGAAACTATCAGACCCAG	0.438																																																	0													117	104	108					1																	52798549		2203	4300	6503	SO:0001583	missense	0			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3548A>G	1.37:g.52798549A>G	ENSP00000360647:p.Tyr1183Cys		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.Y1183C	ENST00000371591.1	37	c.3548	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165476	0.78339	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.56776	0.6;0.44;0.44	4.59	4.59	0.56863	Domain of unknown function DUF3480 (1);	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78932	-0.2009	10	0.87932	D	0	.	14.1308	0.65253	1.0:0.0:0.0:0.0	.	1124;1183	O95405-2;O95405	.;ZFYV9_HUMAN	C	1124;1183;1183	ENSP00000349737:Y1124C;ENSP00000287727:Y1183C;ENSP00000360647:Y1183C	ENSP00000287727:Y1183C	Y	+	2	0	ZFYVE9	52571137	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.922000	0.92789	1.944000	0.56390	0.455000	0.32223	TAT	ZFYVE9	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin	ENSG00000157077		0.438	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	-	0	62	0	A	NM_007324		52798549	1	tier1	-	no_errors	ENST00000287727	ensembl	human	known	74_37	missense	68.75	10	22	SNP	1.000	G	G	52798549	A	G	52798549	3	3	180	1	0	0	0	0	1	0	0	0	17719	449	16	4	3605	4	ZFYVE9	1	52798549	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	5614887	52798549	196452072	10	44669											
GLIS1	148979	genome.wustl.edu	37	chr1	54060185	54060185	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaagttgcaagctgccctCatggctgtccgtcgatgcag	7	11	11	12	2	2	0	2	0	0	0	4	1	3	0	2	1	4	5	2	1	2	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:54060185C>G	ENST00000312233.2	-	3	957	c.391G>C	c.(391-393)Gag>Cag	p.E131Q		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AAGCTGCCCTCATGGCTGTCC	0.642																																																	0													24	28	27					1																	54060185		2201	4299	6500	SO:0001583	missense	0			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.391G>C	1.37:g.54060185C>G	ENSP00000309653:p.Glu131Gln			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E131Q	ENST00000312233.2	37	c.391	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	C	8.798	0.932213	0.18131	.	.	ENSG00000174332	ENST00000312233	T	0.10668	2.85	4.14	4.14	0.48551	.	0.546132	0.17001	N	0.190920	T	0.06325	0.0163	N	0.24115	0.695	0.09310	N	1	B	0.31730	0.337	B	0.26770	0.073	T	0.32666	-0.9898	10	0.14252	T	0.57	.	9.7333	0.40374	0.0:0.8934:0.0:0.1066	.	131	Q8NBF1	GLIS1_HUMAN	Q	131	ENSP00000309653:E131Q	ENSP00000309653:E131Q	E	-	1	0	GLIS1	53832773	0.482000	0.25948	0.613000	0.29037	0.266000	0.26442	1.644000	0.37228	2.606000	0.88127	0.563000	0.77884	GAG	GLIS1	-	NULL	ENSG00000174332		0.642	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	-	0	35	0	C	NM_147193		54060185	-1	tier1	-	no_errors	ENST00000312233	ensembl	human	known	74_37	missense	35.71	9	5	SNP	0.026	G	G	54060185	C	G	54060185	3	3	180	1	0	0	0	0	1	0	0	0	6471	835	29	5	1503	5	GLIS1	1	54060185	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	1261636	54060185	195190436	11	44670											
C1orf175	374977	genome.wustl.edu	37	chr1	55175632	55175632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcagctctggataacttGagacatgacccagaagcatc	13	7	10	11	1	1	3	0	2	1	2	2	6	1	4	1	1	3	3	1	1	2	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:55175632G>T	ENST00000421030.2	+	24	4029	c.3744G>T	c.(3742-3744)ttG>ttT	p.L1248F	MROH7_ENST00000454855.2_Missense_Mutation_p.L766F|MROH7_ENST00000409996.1_Missense_Mutation_p.L816F|MROH7-TTC4_ENST00000414150.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1248						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L1245F(1)|p.L1248F(1)									TGGATAACTTGAGACATGACC	0.567																																																	2	Substitution - Missense(2)	lung(2)											83	85	84					1																	55175632		2029	4189	6218	SO:0001583	missense	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3744G>T	1.37:g.55175632G>T	ENSP00000396622:p.Leu1248Phe		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L1248F	ENST00000421030.2	37	c.3744	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	g	19.74	3.883135	0.72410	.	.	ENSG00000184313	ENST00000421030;ENST00000409996;ENST00000454855;ENST00000371287	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.06	5.06	0.68205	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.62332	0.2419	M	0.75777	2.31	0.32480	N	0.54161	D;P	0.69078	0.997;0.948	D;P	0.64410	0.925;0.7	T	0.72154	-0.4376	9	0.62326	D	0.03	.	13.9175	0.63908	0.0:0.0:1.0:0.0	.	1248;1247	Q68CQ1;Q68CQ1-9	HEAT8_HUMAN;.	F	1248;816;766;317	ENSP00000396622:L1248F;ENSP00000387048:L816F;ENSP00000401130:L766F;ENSP00000360336:L317F	ENSP00000360336:L317F	L	+	3	2	HEATR8	54948220	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	1.647000	0.37260	2.335000	0.79485	0.586000	0.80456	TTG	MROH7	-	superfamily_ARM-type_fold	ENSG00000184313		0.567	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7	HGNC	protein_coding	OTTHUMT00000346978.1		0	41	0	G	NM_198547		55175632	1			no_errors	ENST00000421030	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.999	T	T	55175632	G	T	55175632	3	4	180	1	0	0	0	0	1	0	0	0	2023	1281	45	3	3830	3	C1orf175	1	55175632	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	1115447	55175632	194074989	12	44671											
PHTF1	10745	genome.wustl.edu	37	chr1	114253027	114253027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	cctcagtctccgagtcatggCgggtgctttctgagtctctt	4	14	11	12	2	5	1	2	1	3	0	7	2	5	1	2	2	1	1	2	2	0	2	rs148397701		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:114253027C>A	ENST00000369604.1	-	11	1601	c.1118G>T	c.(1117-1119)cGc>cTc	p.R373L	PHTF1_ENST00000393357.2_Missense_Mutation_p.R373L|PHTF1_ENST00000369600.1_Missense_Mutation_p.R320L|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000357783.2_Missense_Mutation_p.R373L|PHTF1_ENST00000369598.1_Missense_Mutation_p.R328L|PHTF1_ENST00000369596.2_Missense_Mutation_p.R320L			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	373					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)		CGAGTCATGGCGGGTGCTTTC	0.512																																																	0													80	76	78					1																	114253027		2203	4300	6503	SO:0001583	missense	0			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.1118G>T	1.37:g.114253027C>A	ENSP00000358617:p.Arg373Leu		Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	pfam_TF_homeodomain_male	p.R373L	ENST00000369604.1	37	c.1118	CCDS861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.586402|5.586402	0.96578|0.96578	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000412670|ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.110120	.|0.64402	.|D	.|0.000005	T|T	0.72755|0.72755	0.3500|0.3500	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.988;0.98;0.996	.|P;P;D	.|0.63957	.|0.728;0.671;0.92	T|T	0.73830|0.73830	-0.3859|-0.3859	5|9	.|0.66056	.|D	.|0.02	-9.8589|-9.8589	19.9025|19.9025	0.96993|0.96993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|373;128;373	.|Q9UMS5;Q5TCR1;Q9UMS5-2	.|PHTF1_HUMAN;.;.	S|L	129|328;373;320;328;320;373;373	.|.	.|ENSP00000350428:R373L	A|R	-|-	1|2	0|0	PHTF1|PHTF1	114054550|114054550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.233000|7.233000	0.78125|0.78125	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GCC|CGC	PHTF1	-	NULL	ENSG00000116793		0.512	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	-	0	66	0	C	NM_006608		114253027	-1	tier1	-	no_errors	ENST00000369604	ensembl	human	known	74_37	missense	58.82	14	20	SNP	1.000	A	A	114253027	C	A	114253027	3	1	180	1	0	0	0	0	1	0	0	0	11901	768	27	2	1206	2	PHTF1	1	114253027	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	59077395	114253027	134997594	13	44672											
PTGFRN	5738	genome.wustl.edu	37	chr1	117504077	117504077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggactggacgctaaaatatGgagagaggagcaagcagcgg	14	4	17	6	2	0	1	0	0	0	1	0	6	0	5	0	5	3	3	0	5	4	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:117504077G>A	ENST00000393203.2	+	5	1573	c.1426G>A	c.(1426-1428)Gga>Aga	p.G476R	RNA5SP55_ENST00000516701.1_RNA	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	476	Ig-like C2-type 4.				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)		GCTAAAATATGGAGAGAGGAG	0.507																																																	0													84	77	79					1																	117504077		2203	4300	6503	SO:0001583	missense	0			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.1426G>A	1.37:g.117504077G>A	ENSP00000376899:p.Gly476Arg		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.G476R	ENST00000393203.2	37	c.1426	CCDS890.1	1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412577	0.62511	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.30714	1.52	5.35	5.35	0.76521	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055813	0.64402	D	0.000001	T	0.47619	0.1455	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49031	-0.8981	10	0.72032	D	0.01	-16.511	16.5508	0.84472	0.0:0.0:1.0:0.0	.	476	Q9P2B2	FPRP_HUMAN	R	476;335	ENSP00000376899:G476R	ENSP00000376899:G476R	G	+	1	0	PTGFRN	117305600	1.000000	0.71417	0.946000	0.38457	0.146000	0.21551	5.972000	0.70448	2.514000	0.84764	0.305000	0.20034	GGA	PTGFRN	-	smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000134247		0.507	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	-	0	96	0	G	NM_020440		117504077	1	tier1	-	no_errors	ENST00000393203	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.994	A	A	117504077	G	A	117504077	3	1	180	1	0	0	0	0	1	0	0	0	12793	1349	47	3	1444	3	PTGFRN	1	117504077	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	3251050	117504077	131746544	14	44673											
SPAG17	200162	genome.wustl.edu	37	chr1	118533511	118533511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacatgactttttgtagtttCctccattttagggaaagact	11	16	7	7	0	0	2	0	1	0	1	2	3	2	3	2	1	1	2	2	1	4	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:118533511C>T	ENST00000336338.5	-	38	5559	c.5494G>A	c.(5494-5496)Gaa>Aaa	p.E1832K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1832						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)		TTTGTAGTTTCCTCCATTTTA	0.299																																																	0													92	94	93					1																	118533511		2201	4298	6499	SO:0001583	missense	0				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.5494G>A	1.37:g.118533511C>T	ENSP00000337804:p.Glu1832Lys		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.E1832K	ENST00000336338.5	37	c.5494	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292504	0.40594	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.18338	2.22	5.14	3.13	0.36017	.	0.216295	0.38605	N	0.001622	T	0.04907	0.0132	L	0.41415	1.275	0.26627	N	0.972534	B	0.15930	0.015	B	0.20184	0.028	T	0.32534	-0.9903	10	0.25751	T	0.34	.	9.0253	0.36224	0.0:0.8053:0.0:0.1947	.	1832	Q6Q759	SPG17_HUMAN	K	1832;312	ENSP00000337804:E1832K	ENSP00000337804:E1832K	E	-	1	0	SPAG17	118335034	0.479000	0.25925	1.000000	0.80357	0.963000	0.63663	-0.024000	0.12435	1.404000	0.46819	0.655000	0.94253	GAA	SPAG17	-	NULL	ENSG00000155761		0.299	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1		0	53	0	C	NM_206996		118533511	-1			no_errors	ENST00000336338	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.999	T	T	118533511	C	T	118533511	3	4	180	1	0	0	0	0	1	0	0	0	15026	864	30	3	1221	3	SPAG17	1	118533511	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	1029434	118533511	130717110	15	44674											
LINGO4	339398	genome.wustl.edu	37	chr1	151773858	151773858	+	Silent	SNP	T	T	C	0	1	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	atccaggagacagtgggggcTgggtctccatctccagagca	9	7	14	11	0	2	2	0	0	2	2	5	3	3	2	3	4	1	2	3	4	0	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:151773858T>C	ENST00000368820.3	-	2	2260	c.1323A>G	c.(1321-1323)ccA>ccG	p.P441P	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	441	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTGGGGGCTGGGTCTCCAT	0.622																																																	0													84	84	84					1																	151773858		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1323A>G	1.37:g.151773858T>C				Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P441	ENST00000368820.3	37	c.1323	CCDS30855.1	1																																																																																			LINGO4	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000213171		0.622	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO4	HGNC	protein_coding	OTTHUMT00000036639.1	-	0	42	0	T	XM_291387		151773858	-1	tier1	-	no_errors	ENST00000368820	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.896	C	C	151773858	T	C	151773858	2	2	180	1	0	0	0	0	0	0	0	1	8847	1567	55	4		4	LINGO4	1	151773858	Silent	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	33240347	151773858	97476763	16	44675											
FLG	2312	genome.wustl.edu	37	chr1	152277313	152277313	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgacactgactgtgtgtctGactcttctgaatgtccctca	7	14	8	12	0	4	4	1	4	3	0	5	4	5	4	1	0	0	0	1	0	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:152277313G>C	ENST00000368799.1	-	3	10084	c.10049C>G	c.(10048-10050)tCa>tGa	p.S3350*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3350	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)			CTGTGTGTCTGACTCTTCTGA	0.582									Ichthyosis																																								0													369	367	368					1																	152277313		2203	4300	6503	SO:0001587	stop_gained	0	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.10049C>G	1.37:g.152277313G>C	ENSP00000357789:p.Ser3350*		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S3350*	ENST00000368799.1	37	c.10049	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	49	15.441228	0.99834	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	.	.	.	3.85	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.7637	5.9983	0.19507	0.0:0.2134:0.5669:0.2197	.	.	.	.	X	3350;288	.	ENSP00000357786:S288X	S	-	2	0	FLG	150543937	0.000000	0.05858	0.009000	0.14445	0.012000	0.07955	-0.171000	0.09883	0.920000	0.36970	0.454000	0.30748	TCA	FLG	-	NULL	ENSG00000143631		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	127	0	G	NM_002016		152277313	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	nonsense	17.65	83	18	SNP	0.002	C	C	152277313	G	C	152277313	4	2	180	1	0	0	0	0	0	1	0	0	5944	1294	45	5	2140	5	FLG	1	152277313	Nonsense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	503455	152277313	96973308	17	44676											
ILF2	3608	genome.wustl.edu	37	chr1	153641012	153641012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatcaggtgctggcttgaCccggggaaaggccatttcac	8	10	12	11	1	3	1	3	1	0	0	3	2	3	2	2	5	1	2	2	5	1	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:153641012C>T	ENST00000361891.4	-	4	255	c.130G>A	c.(130-132)Gtc>Atc	p.V44I	ILF2_ENST00000368681.1_Missense_Mutation_p.V44I	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	44	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	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)			GCTGGCTTGACCCGGGGAAAG	0.438																																																	0													62	57	58					1																	153641012		2203	4300	6503	SO:0001583	missense	0			U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"interleukin enhancer binding factor 2, 45kD", "interleukin enhancer binding factor 2, 45kDa"			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.130G>A	1.37:g.153641012C>T	ENSP00000355011:p.Val44Ile		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N	p.V44I	ENST00000361891.4	37	c.130	CCDS1050.1	1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503813	0.64410	.	.	ENSG00000143621	ENST00000361891;ENST00000368684;ENST00000368681	T	0.48836	0.8	5.22	3.29	0.37713	.	0.063958	0.64402	D	0.000008	T	0.24774	0.0601	L	0.46819	1.47	0.58432	D	0.999996	B;P;P	0.40834	0.36;0.73;0.61	B;B;B	0.39339	0.062;0.297;0.156	T	0.03344	-1.1046	10	0.45353	T	0.12	-13.6793	10.0397	0.42151	0.1559:0.694:0.1501:0.0	.	6;44;44	B4DY09;F4ZW62;Q12905	.;.;ILF2_HUMAN	I	44;6;44	ENSP00000355011:V44I	ENSP00000355011:V44I	V	-	1	0	ILF2	151907636	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.910000	0.75741	0.563000	0.29222	-0.176000	0.13171	GTC	ILF2	-	NULL	ENSG00000143621		0.438	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF2	HGNC	protein_coding	OTTHUMT00000090040.1	-	0	75	0	C	NM_004515		153641012	-1	tier1	-	no_errors	ENST00000361891	ensembl	human	known	74_37	missense	9.76	36	4	SNP	1.000	T	T	153641012	C	T	153641012	3	4	180	1	0	0	0	0	1	0	0	0	7738	507	18	3	1086	3	ILF2	1	153641012	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	1363699	153641012	95609609	18	44677											
FAM189B	10712	genome.wustl.edu	37	chr1	155221327	155221328	+	Missense_Mutation	DNP	TA	TA	AT																															gtagtcccatgactgcctcaTaagaaggggggcaatcggta																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T|A	T|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:155221327_155221328TA>AT	ENST00000361361.2	-	7	1368_1369	c.859_860TA>AT	c.(859-861)TAt>ATt	p.Y287I	FAM189B_ENST00000368368.3_Missense_Mutation_p.Y269I|FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000350210.2_Missense_Mutation_p.Y191I	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	287						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						GACTGCCTCATAAGAAGGGGGG	0.584																																																	0																																										SO:0001583	missense	0			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.859_860delinsAT	1.37:g.155221327_155221328delinsAT	ENSP00000354958:p.Tyr287Ile		B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	pfam_CD20-like	p.Y287F|p.Y287N	ENST00000361361.2	37	c.860|c.859	CCDS1103.1	1																																																																																			FAM189B	-	NULL	ENSG00000160767		0.584	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189B	HGNC	protein_coding	OTTHUMT00000087224.1	-	0	74|75	0	T|A	NM_006589		155221327|155221328	-1	tier1	-	no_errors	ENST00000361361	ensembl	human	known	74_37	missense	19.44|19.18	58|59	14	SNP	1.000|0.993	A|T	AT	155221328	TA	AT	155221327	3	1	180	1	0	0	0	0	1	0	0	0	5536	1406	49	5	1170	5	FAM189B	1	155221327	Missense_Mutation	DNP	TA	TCGA-XP-A8T8-01A-11D-A36J-09	1580315	155221327	94029294	19	44678											
FDPS	2224	genome.wustl.edu	37	chr1	155290347	155290347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacagtacgcagcacccctgCccccagccgtctttctgggg	7	7	10	17	2	2	0	0	0	2	0	2	0	2	0	5	2	5	3	5	2	2	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:155290347C>A	ENST00000356657.6	+	11	1369	c.1207C>A	c.(1207-1209)Ccc>Acc	p.P403T	RUSC1_ENST00000368352.5_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.P403T|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_5'Flank|FDPS_ENST00000447866.1_Missense_Mutation_p.P337T	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	403					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGCACCCCTGCCCCCAGCCGT	0.517																																																	0													48	47	47					1																	155290347		2203	4300	6503	SO:0001583	missense	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.1207C>A	1.37:g.155290347C>A	ENSP00000349078:p.Pro403Thr		D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.P403T	ENST00000356657.6	37	c.1207	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664073	0.29604	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.62788	0.0;0.0;0.0	3.24	3.24	0.37175	Terpenoid synthase (2);	0.000000	0.36740	N	0.002438	T	0.48786	0.1519	M	0.79614	2.46	0.58432	D	0.999996	B	0.26318	0.146	B	0.24974	0.057	T	0.57929	-0.7726	10	0.40728	T	0.16	-7.9892	12.356	0.55176	0.0:1.0:0.0:0.0	.	403	P14324	FPPS_HUMAN	T	337;403;403	ENSP00000391755:P337T;ENSP00000357340:P403T;ENSP00000349078:P403T	ENSP00000349078:P403T	P	+	1	0	FDPS	153556971	1.000000	0.71417	0.990000	0.47175	0.021000	0.10359	3.977000	0.56874	2.111000	0.64477	0.462000	0.41574	CCC	FDPS	-	superfamily_Terpenoid_synth	ENSG00000160752		0.517	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1		0	53	0	C	NM_002004		155290347	1			no_errors	ENST00000356657	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	A	A	155290347	C	A	155290347	3	1	180	1	0	0	0	0	1	0	0	0	5825	739	26	3	1245	3	FDPS	1	155290347	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	69020	155290347	93960274	20	44679											
FMO2	2327	genome.wustl.edu	37	chr1	171154891	171154891	+	Silent	SNP	T	T	C	0	1	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	gtgattggagctggggtcagTggcctaatttctctgaagtg	7	13	15	6	0	2	2	1	2	1	0	3	3	2	3	1	4	1	1	1	4	2	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:171154891T>C	ENST00000209929.7	+	2	197	c.39T>C	c.(37-39)agT>agC	p.S13S	FMO2_ENST00000529935.1_Intron|FMO2_ENST00000441535.1_Silent_p.S13S			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	13					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)					CTGGGGTCAGTGGCCTAATTT	0.468																																																	0													261	249	253					1																	171154891		2203	4300	6503	SO:0001819	synonymous_variant	0			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.39T>C	1.37:g.171154891T>C			Q53XR0	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.S13	ENST00000209929.7	37	c.39	CCDS1293.1	1																																																																																			FMO2	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase	ENSG00000094963		0.468	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	-	0	156	0	T	NM_001460		171154891	1	tier1	-	no_errors	ENST00000209929	ensembl	human	known	74_37	silent	14.63	70	12	SNP	0.721	C	C	171154891	T	C	171154891	2	2	180	1	0	0	0	0	0	0	0	1	5977	1693	59	4		4	FMO2	1	171154891	Silent	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	15864544	171154891	78095730	21	44680											
NPHS2	7827	genome.wustl.edu	37	chr1	179533884	179533884	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagagcagggaaatgaGgacaagaagccactcacagg	17	3	14	7	0	1	4	1	2	0	2	1	7	1	6	1	3	2	1	1	3	4	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:179533884G>C	ENST00000367615.4	-	2	387	c.319C>G	c.(319-321)Ctc>Gtc	p.L107V	NPHS2_ENST00000367616.4_Missense_Mutation_p.L107V	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	107			L -> P (in NPHS2). {ECO:0000269|PubMed:24227627}.		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						AGGGAAATGAGGACAAGAAGC	0.413																																																	0													72	76	74					1																	179533884		2203	4300	6503	SO:0001583	missense	0			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.319C>G	1.37:g.179533884G>C	ENSP00000356587:p.Leu107Val		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.L107V	ENST00000367615.4	37	c.319	CCDS1331.1	1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.511857	0.00984	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99727	-6.55;-6.55	5.46	-0.267	0.12938	.	0.189598	0.45867	D	0.000328	D	0.97247	0.9100	N	0.20685	0.6	0.22330	N	0.9992	B;B	0.28291	0.206;0.002	B;B	0.27170	0.077;0.009	D	0.96940	0.9687	10	0.31617	T	0.26	-10.2445	3.9057	0.09182	0.3379:0.0:0.3025:0.3596	.	107;107	Q9NP85-2;Q9NP85	.;PODO_HUMAN	V	107	ENSP00000356587:L107V;ENSP00000356588:L107V	ENSP00000356587:L107V	L	-	1	0	NPHS2	177800507	0.954000	0.32549	0.249000	0.24280	0.006000	0.05464	0.014000	0.13333	0.032000	0.15435	-1.069000	0.02264	CTC	NPHS2	-	NULL	ENSG00000116218		0.413	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS2	HGNC	protein_coding	OTTHUMT00000085283.1	-	0	106	0	G			179533884	-1	tier1	-	no_errors	ENST00000367615	ensembl	human	known	74_37	missense	8.86	72	7	SNP	0.298	C	C	179533884	G	C	179533884	3	2	180	1	0	0	0	0	1	0	0	0	10622	1000	35	5	860	5	NPHS2	1	179533884	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	8378993	179533884	69716737	22	44681											
CACNA1E	777	genome.wustl.edu	37	chr1	181724429	181724429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcaacatactcattgtGtacaagctcttcatgttcat	10	16	5	10	0	6	0	4	0	2	0	6	0	6	0	0	0	4	3	0	0	4	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:181724429G>A	ENST00000367573.2	+	28	3885	c.3885G>A	c.(3883-3885)gtG>gtA	p.V1295V	CACNA1E_ENST00000526775.1_Silent_p.V1276V|CACNA1E_ENST00000357570.5_Silent_p.V1246V|CACNA1E_ENST00000367570.1_Silent_p.V1295V|CACNA1E_ENST00000358338.5_Silent_p.V1227V|CACNA1E_ENST00000360108.3_Silent_p.V1276V|CACNA1E_ENST00000367567.4_Silent_p.V902V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1295					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						TACTCATTGTGTACAAGCTCT	0.478																																																	0													220	208	212					1																	181724429		2027	4210	6237	SO:0001819	synonymous_variant	0			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.3885G>A	1.37:g.181724429G>A			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.V1295	ENST00000367573.2	37	c.3885	CCDS55664.1	1																																																																																			CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	50	0	G	NM_000721		181724429	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	21.21	26	7	SNP	1.000	A	A	181724429	G	A	181724429	2	1	180	1	0	0	0	0	0	0	0	1	2549	1364	48	3		3	CACNA1E	1	181724429	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	2190545	181724429	67526192	23	44682											
FAM5C	339479	genome.wustl.edu	37	chr1	190129936	190129936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataacggcgctgaaaattaGaatccattgtccacaaatgc	15	9	7	10	2	0	2	0	1	0	1	2	2	2	2	2	1	2	1	2	1	6	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:190129936G>A	ENST00000367462.3	-	7	1277	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	BRINP3_ENST00000534846.1_Missense_Mutation_p.S247F	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	349					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)											CTGAAAATTAGAATCCATTGT	0.348																																																	0													120	129	126					1																	190129936		2203	4300	6503	SO:0001583	missense	0			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.1046C>T	1.37:g.190129936G>A	ENSP00000356432:p.Ser349Phe		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S349F	ENST00000367462.3	37	c.1046	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824919	0.50739	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18174	2.49;2.23	5.75	5.75	0.90469	.	0.329748	0.33180	N	0.005200	T	0.15782	0.0380	L	0.38175	1.15	0.35636	D	0.810588	B;P	0.36438	0.32;0.553	B;B	0.31812	0.136;0.102	T	0.10497	-1.0627	10	0.44086	T	0.13	.	17.4294	0.87535	0.0:0.0:1.0:0.0	.	247;349	B7Z260;Q76B58	.;FAM5C_HUMAN	F	349;247	ENSP00000356432:S349F;ENSP00000438022:S247F	ENSP00000356432:S349F	S	-	2	0	FAM5C	188396559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.872000	0.56085	2.718000	0.92993	0.573000	0.79308	TCT	BRINP3	-	NULL	ENSG00000162670		0.348	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1	-	0	81	0	G	NM_199051		190129936	-1	tier1	-	no_errors	ENST00000367462	ensembl	human	known	74_37	missense	55.32	21	26	SNP	1.000	A	A	190129936	G	A	190129936	3	1	180	1	0	0	0	0	1	0	0	0	5616	942	33	3	1262	3	FAM5C	1	190129936	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	8405507	190129936	59120685	24	44683											
PTPN14	5784	genome.wustl.edu	37	chr1	214560236	214560236	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacactggacgtgaacGggaggcaggatgtacggctg	10	6	15	10	3	1	1	1	1	0	0	1	4	1	4	1	5	2	3	1	5	2	1	rs138976528		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:214560236G>A	ENST00000366956.5	-	12	1211	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	339					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)		GGACGTGAACGGGAGGCAGGA	0.577																																					Colon(92;557 1424 24372 34121 40073)												0								G		2,4404	4.2+/-10.8	0,2,2201	93	69	77		1017	1.5	1	1	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	PTPN14	NM_005401.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		339/1188	214560236	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1017C>T	1.37:g.214560236G>A			Q5VSI0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.P339	ENST00000366956.5	37	c.1017	CCDS1514.1	1																																																																																			PTPN14	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000152104		0.577	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	-	0	62	0	G	NM_005401		214560236	-1	tier1	rs138976528	no_errors	ENST00000366956	ensembl	human	known	74_37	silent	25.00	45	15	SNP	0.997	A	A	214560236	G	A	214560236	2	1	180	1	0	0	0	0	0	0	0	1	12826	1103	39	1		1	PTPN14	1	214560236	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	24430300	214560236	34690385	25	44684											
USH2A	7399	genome.wustl.edu	37	chr1	216061896	216061896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagtgctcatcagtacccGatattcatattttgtccatg	11	14	7	9	1	3	1	3	0	0	1	4	2	4	1	2	0	2	2	2	0	4	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:216061896G>A	ENST00000307340.3	-	41	8481	c.8095C>T	c.(8095-8097)Cgg>Tgg	p.R2699W	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R2699W	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2699	Fibronectin type-III 13. {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)	p.R2699W(1)		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)		ATCAGTACCCGATATTCATAT	0.493										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	lung(1)											90	89	89					1																	216061896		2203	4300	6503	SO:0001583	missense	0			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.8095C>T	1.37:g.216061896G>A	ENSP00000305941:p.Arg2699Trp		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.R2699W	ENST00000307340.3	37	c.8095	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633193	0.47049	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.60920	0.15;0.15	5.73	3.85	0.44370	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38272	N	0.001747	T	0.68403	0.2997	L	0.60455	1.87	0.47308	D	0.999382	D	0.89917	1.0	D	0.97110	1.0	T	0.66988	-0.5784	10	0.54805	T	0.06	.	8.0986	0.30844	0.0754:0.0:0.5011:0.4234	.	2699	O75445	USH2A_HUMAN	W	2699	ENSP00000305941:R2699W;ENSP00000355910:R2699W	ENSP00000305941:R2699W	R	-	1	2	USH2A	214128519	1.000000	0.71417	0.077000	0.20336	0.266000	0.26442	1.366000	0.34193	0.754000	0.32968	0.655000	0.94253	CGG	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	29	0	G	NM_007123		216061896	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	216061896	G	A	216061896	3	1	180	1	0	0	0	0	1	0	0	0	17085	1057	37	1	7641	1	USH2A	1	216061896	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	1501660	216061896	33188725	26	44685											
TTC13	79573	genome.wustl.edu	37	chr1	231061301	231061301	+	Missense_Mutation	SNP	T	T	A	0	1	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	ttggcaggaaaccaggtgttTcatattgcatcagggatccc	10	11	11	9	0	2	0	2	0	0	0	3	2	3	2	2	4	2	3	2	4	2	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr1:231061301T>A	ENST00000366661.4	-	13	1557	c.1550A>T	c.(1549-1551)gAa>gTa	p.E517V	TTC13_ENST00000366662.4_Missense_Mutation_p.E464V|TTC13_ENST00000414259.1_Missense_Mutation_p.E464V	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	517										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ACCAGGTGTTTCATATTGCAT	0.418																																																	0													128	123	125					1																	231061301		2203	4300	6503	SO:0001583	missense	0				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1550A>T	1.37:g.231061301T>A	ENSP00000355621:p.Glu517Val		B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E517V	ENST00000366661.4	37	c.1550	CCDS1588.1	1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799429	0.90538	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.32272	1.46;1.46;1.46	5.85	5.85	0.93711	.	0.044558	0.85682	D	0.000000	T	0.30479	0.0766	N	0.22421	0.69	0.80722	D	1	P;D;P;P	0.60575	0.818;0.988;0.763;0.947	B;P;P;P	0.48114	0.319;0.543;0.463;0.567	T	0.07539	-1.0767	10	0.72032	D	0.01	-28.309	16.2355	0.82371	0.0:0.0:0.0:1.0	.	442;464;464;517	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	V	517;464;464	ENSP00000355621:E517V;ENSP00000355622:E464V;ENSP00000416631:E464V	ENSP00000355621:E517V	E	-	2	0	TTC13	229127924	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	8.040000	0.89188	2.238000	0.73509	0.533000	0.62120	GAA	TTC13	-	NULL	ENSG00000143643		0.418	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC13	HGNC	protein_coding	OTTHUMT00000092229.2	-	0	82	0	T	NM_024525		231061301	-1	tier1	-	no_errors	ENST00000366661	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	231061301	T	A	231061301	3	1	180	1	0	0	0	0	1	0	0	0	16729	1783	62	5	1076	5	TTC13	1	231061301	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	14999405	231061301	18189320	27	44686											
SOX11	6664	genome.wustl.edu	37	chr2	5833282	5833284	+	In_Frame_Del	DEL	CGG	CGG	-																															agcccagagaagagcgcggcCggcggcggcggcgggagcgc																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	CGG	CGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:5833282_5833284delCGG	ENST00000322002.3	+	1	484_486	c.429_431delCGG	c.(427-432)gccggc>gcc	p.G148del	AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	148	Poly-Gly.				cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		Agagcgcggccggcggcggcggc	0.724																																																	0																																										SO:0001651	inframe_deletion	0				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.429_431delCGG	2.37:g.5833291_5833293delCGG	ENSP00000322568:p.Gly148del		Q4ZFV8	In_Frame_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.G147in_frame_del	ENST00000322002.3	37	c.429_431	CCDS1654.1	2																																																																																			SOX11	-	pirsf_SOX-12/11/4a	ENSG00000176887		0.724	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1		0	32	0	CGG	NM_003108		5833284	1	tier1		no_errors	ENST00000322002	ensembl	human	known	74_37	in_frame_del	16.00	21	4	DEL	0.780:0.872:0.954	-	-	5833284	CGG	-	5833282	7	5	180	1	0	1	0	1	0	0	0	0	14987	639	23	0	431	0	SOX11	2	5833282	In_Frame_Del	DEL	CGG	TCGA-XP-A8T8-01A-11D-A36J-09		5833282	237366091	28	44687											
GRHL1	29841	genome.wustl.edu	37	chr2	10098951	10098951	+	Frame_Shift_Del	DEL	G	G	-																															ggtcatcaacagcaaagccaGaggtggagcaccctgagcca																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:10098951delG	ENST00000324907.9	+	3	380	c.244delG	c.(244-246)gagfs	p.E82fs	GRHL1_ENST00000324883.5_5'UTR|GRHL1_ENST00000405379.2_Frame_Shift_Del_p.E82fs	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	82	Transcription activation.				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)		AGCAAAGCCAGAGGTGGAGCA	0.443																																																	0													114	117	116					2																	10098951		1981	4166	6147	SO:0001589	frameshift_variant	0			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.244delG	2.37:g.10098951delG	ENSP00000324693:p.Glu82fs		A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Frame_Shift_Del	DEL	pfam_CP2	p.E82fs	ENST00000324907.9	37	c.244	CCDS33144.2	2																																																																																			GRHL1	-	NULL	ENSG00000134317		0.443	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL1	HGNC	protein_coding	OTTHUMT00000323543.2		0	88	0	G	NM_014552		10098951	1	tier1		no_errors	ENST00000324907	ensembl	human	known	74_37	frame_shift_del	67.90	26	55	DEL	0.948	-	-	10098951	G	-	10098951	7	5	180	1	0	1	0	1	0	0	0	0	6790	943	33	0	254	0	GRHL1	2	10098951	Frame_Shift_Del	DEL	G	TCGA-XP-A8T8-01A-11D-A36J-09	4265669	10098951	233100422	29	44688											
NLRC4	58484	genome.wustl.edu	37	chr2	32460524	32460524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	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	gtttttcaacccaagcttgaCgagttgtgggacctcctcca	8	12	9	12	1	1	1	1	1	0	0	3	3	3	2	4	1	2	3	4	1	2	4	rs144418059		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:32460524C>G	ENST00000404025.2	-	9	3216	c.2728G>C	c.(2728-2730)Gtc>Ctc	p.V910L	NLRC4_ENST00000402280.1_Missense_Mutation_p.V910L|NLRC4_ENST00000360906.5_Missense_Mutation_p.V910L|NLRC4_ENST00000342905.6_Missense_Mutation_p.V245L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	910					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)					CCAAGCTTGACGAGTTGTGGG	0.498																																																	0													174	166	169					2																	32460524		2203	4300	6503	SO:0001583	missense	0			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.2728G>C	2.37:g.32460524C>G	ENSP00000385090:p.Val910Leu		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD	p.V910L	ENST00000404025.2	37	c.2728	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	C	8.336	0.827687	0.16749	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.66	-8.86	0.00795	.	1.796490	0.03567	N	0.227975	T	0.32763	0.0840	L	0.36672	1.1	0.22240	N	0.999265	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.15065	-1.0450	9	0.35671	T	0.21	0.5709	7.8025	0.29183	0.0:0.2405:0.2042:0.5553	.	245;910	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	L	910;910;245;910	ENSP00000354159:V910L;ENSP00000385428:V910L;ENSP00000339666:V245L;ENSP00000385090:V910L	ENSP00000339666:V245L	V	-	1	0	NLRC4	32314028	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-6.173000	0.00077	-1.927000	0.01060	-0.290000	0.09829	GTC	NLRC4	-	NULL	ENSG00000091106		0.498	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	-	0	52	0	C	NM_021209		32460524	-1	tier1	-	no_errors	ENST00000360906	ensembl	human	known	74_37	missense	22.58	24	7	SNP	0.000	G	G	32460524	C	G	32460524	3	3	180	1	0	0	0	0	1	0	0	0	10508	536	19	5	354	5	NLRC4	2	32460524	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	22361573	32460524	210738849	30	44689											
PIGF	5281	genome.wustl.edu	37	chr2	46842241	46842241	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatggaatgaagacacttagGataattgaaaatatgcataa	19	10	9	3	0	0	3	0	2	0	1	0	6	0	5	0	2	1	1	0	2	8	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:46842241G>T	ENST00000281382.6	-	2	233	c.63C>A	c.(61-63)atC>atA	p.I21I	PIGF_ENST00000306465.4_Silent_p.I21I|PIGF_ENST00000495933.1_5'UTR|CRIPT_ENST00000238892.3_5'Flank	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	21					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)	ethanolaminephosphotransferase activity (GO:0004307)			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGACACTTAGGATAATTGAAA	0.358																																																	0													155	158	157					2																	46842241		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS1827.1, CCDS1828.1	2p21-p16	2013-02-26	2006-06-28		ENSG00000151665	ENSG00000151665		"Phosphatidylinositol glycan anchor biosynthesis"	8962	protein-coding gene	gene with protein product		600153	"phosphatidylinositol glycan, class F"			8575782, 8463218	Standard	NM_173074		Approved		uc002rvd.3	Q07326	OTTHUMG00000128816	ENST00000281382.6:c.63C>A	2.37:g.46842241G>T			Q8WW20	Silent	SNP	pfam_GPI_biosynthesis_protein_Pig-F	p.I21	ENST00000281382.6	37	c.63	CCDS1827.1	2																																																																																			PIGF	-	pfam_GPI_biosynthesis_protein_Pig-F	ENSG00000151665		0.358	PIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGF	HGNC	protein_coding	OTTHUMT00000250749.2	-	0	89	0	G	NM_173074		46842241	-1	tier1	-	no_errors	ENST00000281382	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.989	T	T	46842241	G	T	46842241	2	4	180	1	0	0	0	0	0	0	0	1	11926	1164	41	3		3	PIGF	2	46842241	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	14381717	46842241	196357132	31	44690											
SMEK2	57223	genome.wustl.edu	37	chr2	55826102	55826102	+	Missense_Mutation	SNP	T	T	C	0	1	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	gatgactagtttcaggcattTcttcaaatcgttcttcttca	9	17	6	9	1	6	1	3	1	3	0	7	2	6	1	0	1	0	3	0	1	2	7			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:55826102T>C	ENST00000345102.5	-	4	672	c.371A>G	c.(370-372)gAa>gGa	p.E124G	SMEK2_ENST00000407823.3_Missense_Mutation_p.E124G|SMEK2_ENST00000272313.5_Missense_Mutation_p.E124G	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	124					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)			TTCAGGCATTTCTTCAAATCG	0.403																																																	0													158	167	164					2																	55826102		2203	4300	6503	SO:0001583	missense	0			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.371A>G	2.37:g.55826102T>C	ENSP00000339769:p.Glu124Gly		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E124G	ENST00000345102.5	37	c.371	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376808	0.61735	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.50277	0.75;0.75;0.75	5.85	5.85	0.93711	.	0.044471	0.85682	D	0.000000	T	0.35335	0.0928	N	0.17800	0.525	0.80722	D	1	P;P;B	0.37548	0.534;0.599;0.03	B;B;B	0.35607	0.205;0.206;0.036	T	0.18085	-1.0348	10	0.38643	T	0.18	-14.6038	16.2421	0.82418	0.0:0.0:0.0:1.0	.	124;124;124	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	G	124	ENSP00000272313:E124G;ENSP00000385912:E124G;ENSP00000339769:E124G	ENSP00000272313:E124G	E	-	2	0	SMEK2	55679606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.234000	0.73211	0.533000	0.62120	GAA	SMEK2	-	NULL	ENSG00000138041		0.403	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	-	0	31	0	T	NM_020463		55826102	-1	tier1	-	no_errors	ENST00000272313	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	C	C	55826102	T	C	55826102	3	2	180	1	0	0	0	0	1	0	0	0	14839	1783	62	4	2234	4	SMEK2	2	55826102	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	8983861	55826102	187373271	32	44691											
VPS54	51542	genome.wustl.edu	37	chr2	64141399	64141399	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcaatattcaaggataaTtcttattaacagcaatacgg	15	12	7	7	1	2	0	1	0	1	0	2	1	2	1	0	3	3	2	0	3	8	7			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:64141399T>A	ENST00000272322.4	-	17	2405	c.2251A>T	c.(2251-2253)Att>Ttt	p.I751F	VPS54_ENST00000409558.4_Missense_Mutation_p.I739F|VPS54_ENST00000354504.3_Missense_Mutation_p.I598F			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	751					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						TCAAGGATAATTCTTATTAAC	0.328																																																	0													111	112	111					2																	64141399		2203	4300	6503	SO:0001583	missense	0			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.2251A>T	2.37:g.64141399T>A	ENSP00000272322:p.Ile751Phe		Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	pfam_Vps54,pfam_Vacuolar_sorting-assoc_54	p.I751F	ENST00000272322.4	37	c.2251	CCDS33208.1	2	.	.	.	.	.	.	.	.	.	.	T	14.82	2.649790	0.47362	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.32753	1.44;1.45;1.45	6.02	4.86	0.63082	.	0.087235	0.85682	D	0.000000	T	0.35828	0.0945	N	0.25890	0.77	0.80722	D	1	P;P;P	0.49447	0.9;0.924;0.906	P;P;P	0.58266	0.471;0.836;0.747	T	0.04242	-1.0966	10	0.20046	T	0.44	.	13.5553	0.61756	0.0:0.0:0.1299:0.8701	.	598;751;739	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	F	598;751;739;739;751	ENSP00000346499:I598F;ENSP00000272322:I751F;ENSP00000386980:I739F	ENSP00000272322:I751F	I	-	1	0	VPS54	63994903	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.040000	0.89188	1.076000	0.40961	-0.321000	0.08615	ATT	VPS54	-	pfam_Vps54	ENSG00000143952		0.328	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS54	HGNC	protein_coding	OTTHUMT00000327062.2	-	0	94	0	T	NM_016516		64141399	-1	tier1	-	no_errors	ENST00000272322	ensembl	human	known	74_37	missense	65.38	18	34	SNP	1.000	A	A	64141399	T	A	64141399	3	1	180	1	0	0	0	0	1	0	0	0	17265	1493	52	5	710	5	VPS54	2	64141399	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	8315297	64141399	179057974	33	44692											
POLR1A	25885	genome.wustl.edu	37	chr2	86327110	86327110	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcgaagaggagagggttaTacactgtgagtgggagctca	12	8	15	6	1	1	3	1	1	0	2	2	6	1	4	0	3	2	2	0	3	3	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:86327110T>A	ENST00000263857.6	-	2	641	c.263A>T	c.(262-264)tAt>tTt	p.Y88F	POLR1A_ENST00000409681.1_Missense_Mutation_p.Y88F			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	88					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						GAGAGGGTTATACACTGTGAG	0.562																																																	0													86	91	89					2																	86327110		2061	4191	6252	SO:0001583	missense	0			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.263A>T	2.37:g.86327110T>A	ENSP00000263857:p.Tyr88Phe		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.Y88F	ENST00000263857.6	37	c.263	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	T	17.38	3.375839	0.61735	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.17370	2.28;2.28	5.78	5.78	0.91487	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	L	0.39085	1.19	0.80722	D	1	B;P	0.44521	0.309;0.837	B;P	0.51055	0.267;0.657	T	0.01305	-1.1390	10	0.25106	T	0.35	-23.8796	16.098	0.81144	0.0:0.0:0.0:1.0	.	88;88	B9ZVN9;O95602	.;RPA1_HUMAN	F	88	ENSP00000263857:Y88F;ENSP00000386300:Y88F	ENSP00000263857:Y88F	Y	-	2	0	POLR1A	86180621	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.746000	0.68681	2.210000	0.71456	0.460000	0.39030	TAT	POLR1A	-	pfam_RNA_pol_Rpb1_1	ENSG00000068654		0.562	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	-	0	102	0	T	NM_015425		86327110	-1	tier1	-	no_errors	ENST00000263857	ensembl	human	known	74_37	missense	52.08	46	50	SNP	1.000	A	A	86327110	T	A	86327110	3	1	180	1	0	0	0	0	1	0	0	0	12248	1406	49	5	5031	5	POLR1A	2	86327110	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	22185711	86327110	156872263	34	44693											
RMND5A	64795	genome.wustl.edu	37	chr2	87000518	87000518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaagtccaggagatgccaAacagatatttttctgaagag	16	9	9	7	0	1	4	0	1	1	3	2	5	2	4	2	1	2	0	2	1	4	3	rs202224251		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:87000518A>G	ENST00000283632.4	+	9	1655	c.1160A>G	c.(1159-1161)aAa>aGa	p.K387R	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	387										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GGAGATGCCAAACAGATATTT	0.378																																																	0													107	107	107					2																	87000518		2203	4300	6503	SO:0001583	missense	0			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.1160A>G	2.37:g.87000518A>G	ENSP00000283632:p.Lys387Arg		D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.K387R	ENST00000283632.4	37	c.1160	CCDS1991.1	2	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847935	0.32699	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	N	0.04373	-0.215	0.58432	D	0.999999	B	0.17667	0.023	B	0.23574	0.047	T	0.32455	-0.9906	9	0.05959	T	0.93	-13.2265	16.3951	0.83601	1.0:0.0:0.0:0.0	.	387	Q9H871	RMD5A_HUMAN	R	387	.	ENSP00000283632:K387R	K	+	2	0	RMND5A	86854029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.954000	0.93051	2.272000	0.75746	0.460000	0.39030	AAA	RMND5A	-	NULL	ENSG00000153561		0.378	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND5A	HGNC	protein_coding	OTTHUMT00000252591.2	-	0	100	0	A	NM_022780		87000518	1	tier1	rs202224251	no_errors	ENST00000283632	ensembl	human	known	74_37	missense	51.56	31	33	SNP	1.000	G	G	87000518	A	G	87000518	3	3	180	1	0	0	0	0	1	0	0	0	13442	14	1	4	1194	4	RMND5A	2	87000518	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	673408	87000518	156198855	35	44694											
IL1RL2	8808	genome.wustl.edu	37	chr2	102808451	102808451	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaaacattggtgtgacacTtccataggtggtttaccaaa	14	11	9	7	0	0	1	0	1	0	0	1	2	1	1	2	3	2	1	2	3	5	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:102808451T>C	ENST00000264257.2	+	4	486	c.360T>C	c.(358-360)acT>acC	p.T120T	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Silent_p.T120T	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	120					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGTGTGACACTTCCATAGGTG	0.368																																																	0													104	102	102					2																	102808451		2203	4300	6503	SO:0001819	synonymous_variant	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.360T>C	2.37:g.102808451T>C			A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ	p.T120	ENST00000264257.2	37	c.360	CCDS2056.1	2																																																																																			IL1RL2	-	NULL	ENSG00000115598		0.368	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	-	0	78	0	T	NM_003854		102808451	1	tier1	-	no_errors	ENST00000264257	ensembl	human	known	74_37	silent	15.38	55	10	SNP	0.007	C	C	102808451	T	C	102808451	2	2	180	1	0	0	0	0	0	0	0	1	7691	1596	56	4		4	IL1RL2	2	102808451	Silent	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	15807933	102808451	140390922	36	44695											
FAM123C	205147	genome.wustl.edu	37	chr2	131522133	131522133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggggtctctgcaagtgccCcagaatgccgctgcagcctc	6	7	14	14	1	1	1	0	0	1	1	3	1	1	1	4	3	5	3	4	3	2	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:131522133C>T	ENST00000423981.1	+	2	2598	c.2488C>T	c.(2488-2490)Cca>Tca	p.P830S	AMER3_ENST00000321420.4_Missense_Mutation_p.P830S	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	830					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TGCAAGTGCCCCAGAATGCCG	0.667																																																	0													8	10	9					2																	131522133		2171	4278	6449	SO:0001583	missense	0			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.2488C>T	2.37:g.131522133C>T	ENSP00000392700:p.Pro830Ser		B7ZLH6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.P830S	ENST00000423981.1	37	c.2488	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685101	0.47991	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.43294	0.95;0.95	4.34	0.266	0.15617	.	.	.	.	.	T	0.22282	0.0537	N	0.24115	0.695	0.09310	N	1	B	0.21821	0.061	B	0.19391	0.025	T	0.26087	-1.0113	9	0.15066	T	0.55	.	3.9142	0.09216	0.4073:0.4117:0.0:0.181	.	830	Q8N944	F123C_HUMAN	S	830	ENSP00000314914:P830S;ENSP00000392700:P830S	ENSP00000314914:P830S	P	+	1	0	FAM123C	131238603	0.001000	0.12720	0.000000	0.03702	0.889000	0.51656	0.428000	0.21395	-0.086000	0.12550	0.561000	0.74099	CCA	AMER3	-	NULL	ENSG00000178171		0.667	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	HGNC	protein_coding	OTTHUMT00000254531.3	-	0	24	0	C	NM_152698		131522133	1	tier1	-	no_errors	ENST00000321420	ensembl	human	known	74_37	missense	58.33	15	21	SNP	0.001	T	T	131522133	C	T	131522133	3	4	180	1	0	0	0	0	1	0	0	0	5443	623	22	3	2490	3	FAM123C	2	131522133	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	28713682	131522133	111677240	37	44696											
KYNU	8942	genome.wustl.edu	37	chr2	143685256	143685256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtcatgaagtggggaagCgtccttggattacaggagat	11	10	15	5	1	1	2	1	1	0	1	2	5	2	4	1	5	2	0	1	5	3	2	rs373416306		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:143685256C>T	ENST00000410015.2	+	4	409	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	KYNU_ENST00000264170.4_Missense_Mutation_p.R107C|KYNU_ENST00000409512.1_Missense_Mutation_p.R107C|KYNU_ENST00000375773.2_Missense_Mutation_p.R107C					kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AGTGGGGAAGCGTCCTTGGAT	0.368																																																	0								C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	208	194	199		319,319,319	5.9	1	2		199	0,8600		0,0,4300	no	missense,missense,missense	KYNU	NM_001032998.1,NM_001199241.1,NM_003937.2	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	107/308,107/466,107/466	143685256	1,13005	2203	4300	6503	SO:0001583	missense	0			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	ENST00000410015.2:c.319C>T	2.37:g.143685256C>T	ENSP00000387296:p.Arg107Cys			Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase	p.R107C	ENST00000410015.2	37	c.319		2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944870	0.73672	2.27E-4	0.0	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	T;T;T	0.57107	0.42;0.42;0.42	5.88	5.88	0.94601	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.70552	0.3237	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	0.994;1.0	P;D	0.91635	0.861;0.999	T	0.69187	-0.5211	10	0.49607	T	0.09	.	16.9558	0.86259	0.0:1.0:0.0:0.0	.	107;107	Q16719;Q9BVW3	KYNU_HUMAN;.	C	107	ENSP00000264170:R107C;ENSP00000364928:R107C;ENSP00000386731:R107C	ENSP00000264170:R107C	R	+	1	0	KYNU	143401726	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.130000	0.50508	2.792000	0.96026	0.557000	0.71058	CGT	KYNU	-	superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase	ENSG00000115919		0.368	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	KYNU	HGNC	protein_coding	OTTHUMT00000332172.2	-	0	115	0	C	NM_001032998		143685256	1	tier1	-	no_errors	ENST00000264170	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	143685256	C	T	143685256	3	4	180	1	0	0	0	0	1	0	0	0	8615	768	27	1	329	1	KYNU	2	143685256	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	12163123	143685256	99514117	38	44697											
RIF1	55183	genome.wustl.edu	37	chr2	152325154	152325154	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttctgaaatttattctaaGatttcagaaatggccaaaga	15	13	7	6	0	3	4	1	1	2	3	3	4	3	4	1	1	0	1	1	1	5	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:152325154G>C	ENST00000243326.5	+	32	7308		c.e32-1		RIF1_ENST00000430328.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000428287.2_Splice_Site			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1						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)		TTTATTCTAAGATTTCAGAAA	0.373																																																	0													129	130	130					2																	152325154		2203	4300	6503	SO:0001630	splice_region_variant	0			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.6826-1G>C	2.37:g.152325154G>C			A0AVS0|Q9NS16	Splice_Site	SNP	-	e32-1	ENST00000243326.5	37	c.6826-1	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231589	0.79688	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.892	0.92408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIF1	152033400	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.976000	0.93442	2.543000	0.85770	0.591000	0.81541	.	RIF1	-	-	ENSG00000080345		0.373	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	-	0	79	0	G		Intron	152325154	1	tier1	-	no_errors	ENST00000243326	ensembl	human	known	74_37	splice_site	29.41	48	20	SNP	1.000	C	C	152325154	G	C	152325154	5	2	180	1	0	0	0	0	0	0	1	0	13404	956	33	5	6951	5	RIF1	2	152325154	Splice_Site	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	8639898	152325154	90874219	39	44698											
BAZ2B	29994	genome.wustl.edu	37	chr2	160242920	160242920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgagaggagcctcacaaGcaagtcttgtacttcaccca	12	8	9	12	0	3	1	2	1	1	1	3	3	3	2	2	1	4	3	2	1	3	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:160242920G>A	ENST00000392783.2	-	22	3910	c.3415C>T	c.(3415-3417)Ctt>Ttt	p.L1139F	BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1105F|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1039F|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1103F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1139	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGCCTCACAAGCAAGTCTTGT	0.373																																																	0													83	76	78					2																	160242920		1887	4133	6020	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3415C>T	2.37:g.160242920G>A	ENSP00000376534:p.Leu1139Phe		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L1139F	ENST00000392783.2	37	c.3415	CCDS2209.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.605061|4.605061	0.87157|0.87157	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000294905|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|T;T;T;T	.|0.64803	.|-0.11;-0.08;-0.11;-0.12	6.08|6.08	6.08|6.08	0.98989|0.98989	.|DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	.|0.000000	.|0.33534	.|U	.|0.004815	T|T	0.79143|0.79143	0.4396|0.4396	M|M	0.64997|0.64997	1.995|1.995	0.53688|0.53688	D|D	0.999977|0.999977	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.995;1.0	T|T	0.77970|0.77970	-0.2387|-0.2387	5|10	.|0.62326	.|D	.|0.03	-10.6455|-10.6455	20.6721|20.6721	0.99693|0.99693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1103;1139	.|Q9UIF8-5;Q9UIF8	.|.;BAZ2B_HUMAN	V|F	199|1103;1139;1105;1039	.|ENSP00000376533:L1103F;ENSP00000376534:L1139F;ENSP00000348087:L1105F;ENSP00000339670:L1039F	.|ENSP00000339670:L1039F	A|L	-|-	2|1	0|0	BAZ2B|BAZ2B	159951166|159951166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.004000|4.004000	0.57068|0.57068	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GCT|CTT	BAZ2B	-	pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily	ENSG00000123636		0.373	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	-	0	88	0	G			160242920	-1	tier1	-	no_errors	ENST00000392783	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A	A	160242920	G	A	160242920	3	1	180	1	0	0	0	0	1	0	0	0	1333	971	34	3	3155	3	BAZ2B	2	160242920	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	7917766	160242920	82956453	40	44699											
TTN	7273	genome.wustl.edu	37	chr2	179456146	179456146	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaggaacaggcacacctctTataatagcagggaatctgac	14	8	10	9	0	2	1	0	1	2	0	2	3	2	3	1	3	2	3	1	3	6	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:179456146T>C	ENST00000591111.1	-	254	55607	c.55383A>G	c.(55381-55383)atA>atG	p.I18461M	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I17534M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I20102M|TTN_ENST00000359218.5_Missense_Mutation_p.I11162M|TTN_ENST00000460472.2_Missense_Mutation_p.I11037M|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I11229M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18461	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)			GCACACCTCTTATAATAGCAG	0.438																																																	0													238	235	236					2																	179456146		1917	4129	6046	SO:0001583	missense	0			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.55383A>G	2.37:g.179456146T>C	ENSP00000465570:p.Ile18461Met		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I17534M	ENST00000591111.1	37	c.52602		2	.	.	.	.	.	.	.	.	.	.	T	14.58	2.579190	0.46006	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	6.1	-3.29	0.05017	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	0.52869	0.1761	L	0.41906	1.305	0.30503	N	0.770184	B;B;B;B	0.10296	0.003;0.003;0.003;0.001	B;B;B;B	0.14023	0.01;0.01;0.01;0.01	T	0.49380	-0.8946	9	0.87932	D	0	.	1.1331	0.01749	0.4594:0.1888:0.1174:0.2343	.	11037;11162;11229;18461	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	17534;11037;11229;11162;11035	ENSP00000343764:I17534M;ENSP00000434586:I11037M;ENSP00000340554:I11229M;ENSP00000352154:I11162M	ENSP00000340554:I11229M	I	-	3	3	TTN	179164392	1.000000	0.71417	0.975000	0.42487	0.986000	0.74619	1.256000	0.32921	-0.371000	0.08004	0.528000	0.53228	ATA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	48	0	T	NM_133378		179456146	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	C	C	179456146	T	C	179456146	3	2	180	1	0	0	0	0	1	0	0	0	16784	1744	61	4	47909	4	TTN	2	179456146	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	19213226	179456146	63743227	41	44700											
FAM126B	285172	genome.wustl.edu	37	chr2	201887609	201887609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtacaagtgtttttttcCggtgtaaagttgctgcataa	9	16	10	6	1	0	0	0	0	0	0	1	0	1	0	1	2	3	6	1	2	5	7			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:201887609C>A	ENST00000418596.3	-	4	285	c.98G>T	c.(97-99)cGg>cTg	p.R33L	FAM126B_ENST00000485144.1_5'Flank	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	33						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGTTTTTTTCCGGTGTAAAGT	0.353																																																	0													118	116	117					2																	201887609		2203	4300	6503	SO:0001583	missense	0			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.98G>T	2.37:g.201887609C>A	ENSP00000393667:p.Arg33Leu		B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	pfam_Hyccin	p.R33L	ENST00000418596.3	37	c.98	CCDS2335.1	2	.	.	.	.	.	.	.	.	.	.	C	13.02	2.110910	0.37242	.	.	ENSG00000155744	ENST00000418596;ENST00000452799;ENST00000453765;ENST00000446678	T;T;T;T	0.78003	-1.09;-1.09;-1.09;-1.14	5.39	5.39	0.77823	.	0.078821	0.53938	D	0.000049	T	0.61311	0.2337	N	0.03608	-0.345	0.46061	D	0.998842	B	0.06786	0.001	B	0.09377	0.004	T	0.57820	-0.7745	10	0.51188	T	0.08	-9.9922	19.5147	0.95159	0.0:1.0:0.0:0.0	.	33	Q8IXS8	F126B_HUMAN	L	33	ENSP00000393667:R33L;ENSP00000401905:R33L;ENSP00000408374:R33L;ENSP00000412139:R33L	ENSP00000286181:R33L	R	-	2	0	FAM126B	201595854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.183000	0.42565	2.660000	0.90430	0.655000	0.94253	CGG	FAM126B	-	pfam_Hyccin	ENSG00000155744		0.353	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126B	HGNC	protein_coding	OTTHUMT00000256285.3		0	93	0	C	NM_173822		201887609	-1			no_errors	ENST00000418596	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	201887609	C	A	201887609	3	1	180	1	0	0	0	0	1	0	0	0	5449	652	23	2	1530	2	FAM126B	2	201887609	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	22431463	201887609	41311764	42	44701											
AAMP	14	genome.wustl.edu	37	chr2	219129888	219129888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tgcctcccacagcagctgcaCgatgcccgactgccccgagg	7	5	11	18	3	0	0	0	0	0	0	1	3	1	0	5	1	6	3	5	1	0	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:219129888C>T	ENST00000248450.4	-	10	1254	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M	AAMP_ENST00000420660.1_Missense_Mutation_p.V343M|AAMP_ENST00000444053.1_Missense_Mutation_p.V363M			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	362					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGCTGCACGATGCCCGAC	0.637																																																	0													28	31	30					2																	219129888		2203	4300	6503	SO:0001583	missense	0			AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.1084G>A	2.37:g.219129888C>T	ENSP00000248450:p.Val362Met		Q8WUJ9|Q96H92	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V362M	ENST00000248450.4	37	c.1084	CCDS33378.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.243167	0.95272	.	.	ENSG00000127837	ENST00000248450;ENST00000444053;ENST00000420660	T;T;T	0.18338	2.22;2.22;2.22	5.84	5.84	0.93424	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	0.34542	0.0901	L	0.37750	1.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.984;0.98	T	0.00638	-1.1632	10	0.34782	T	0.22	-14.7313	20.1379	0.98040	0.0:1.0:0.0:0.0	.	363;362;343	C9JEH3;Q13685;C9JG97	.;AAMP_HUMAN;.	M	362;363;343	ENSP00000248450:V362M;ENSP00000403343:V363M;ENSP00000416394:V343M	ENSP00000248450:V362M	V	-	1	0	AAMP	218838132	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.637000	0.83313	2.779000	0.95612	0.655000	0.94253	GTG	AAMP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000127837		0.637	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AAMP	HGNC	protein_coding	OTTHUMT00000338756.1		0	96	0	C	NM_001087		219129888	-1			no_errors	ENST00000248450	ensembl	human	known	74_37	missense	9.80	45	5	SNP	1.000	T	T	219129888	C	T	219129888	3	4	180	1	0	0	0	0	1	0	0	0	17	536	19	1	228	1	AAMP	2	219129888	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	17242279	219129888	24069485	43	44702											
ZNF142	7701	genome.wustl.edu	37	chr2	219509410	219509410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccttctggctcctggcttGcatagcggagctgccaggcc	4	9	12	16	1	1	0	0	0	1	0	2	1	2	1	5	4	4	4	5	4	1	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:219509410G>A	ENST00000449707.1	-	8	2250	c.1829C>T	c.(1828-1830)gCa>gTa	p.A610V	ZNF142_ENST00000411696.2_Missense_Mutation_p.A610V	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	610					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)		CTCCTGGCTTGCATAGCGGAG	0.602																																					Colon(170;867 1942 8995 15834 18053)												0													46	49	48					2																	219509410		2056	4205	6261	SO:0001583	missense	0			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.1829C>T	2.37:g.219509410G>A	ENSP00000408643:p.Ala610Val		Q92510	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A610V	ENST00000449707.1	37	c.1829	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706267	0.48412	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.13307	2.6;2.6	5.95	4.17	0.49024	.	0.107206	0.64402	D	0.000006	T	0.20700	0.0498	L	0.53249	1.67	0.31472	N	0.668314	P;P	0.51791	0.935;0.948	P;P	0.50860	0.575;0.652	T	0.08953	-1.0697	10	0.40728	T	0.16	-1.8544	11.1152	0.48256	0.142:0.0:0.858:0.0	.	610;447	P52746;A8MWU9	ZN142_HUMAN;.	V	610	ENSP00000408643:A610V;ENSP00000398798:A610V	ENSP00000398798:A610V	A	-	2	0	ZNF142	219217654	1.000000	0.71417	0.213000	0.23690	0.174000	0.22865	6.350000	0.73017	0.871000	0.35750	-0.136000	0.14681	GCA	ZNF142	-	NULL	ENSG00000115568		0.602	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	-	0	39	0	G	NM_005081		219509410	-1	tier1	-	no_errors	ENST00000411696	ensembl	human	known	74_37	missense	10.00	45	5	SNP	0.787	A	A	219509410	G	A	219509410	3	1	180	1	0	0	0	0	1	0	0	0	17779	1319	46	3	3246	3	ZNF142	2	219509410	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	379522	219509410	23689963	44	44703											
STK16	8576	genome.wustl.edu	37	chr2	220113230	220113230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcctctcctcctcagtcaGctggaggcgcttcagccccc	5	10	8	18	1	4	0	3	0	1	0	7	1	6	1	5	2	2	2	5	2	0	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:220113230G>T	ENST00000409638.3	+	8	1039	c.867G>T	c.(865-867)caG>caT	p.Q289H	STK16_ENST00000409260.1_Missense_Mutation_p.Q334H|STK16_ENST00000409743.1_Missense_Mutation_p.Q257H|STK16_ENST00000409516.3_Missense_Mutation_p.Q171H|STK16_ENST00000396738.2_Missense_Mutation_p.Q289H|TUBA4A_ENST00000498660.1_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	289	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)		TCCTCAGTCAGCTGGAGGCGC	0.562																																					Pancreas(34;887 922 17165 36961 39622)												0													79	84	82					2																	220113230		2032	4179	6211	SO:0001583	missense	0			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.867G>T	2.37:g.220113230G>T	ENSP00000386928:p.Gln289His		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q289H	ENST00000409638.3	37	c.867	CCDS42822.1	2	.	.	.	.	.	.	.	.	.	.	G	0.926	-0.714286	0.03206	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409516;ENST00000409260;ENST00000409743	T;T;T;T;T	0.74106	-0.61;-0.61;0.11;-0.81;-0.49	5.15	-0.0799	0.13708	Protein kinase, catalytic domain (1);	0.111534	0.64402	N	0.000006	T	0.49133	0.1539	N	0.13235	0.315	0.45390	D	0.998377	B;B;B	0.26635	0.155;0.011;0.043	B;B;B	0.21151	0.033;0.011;0.014	T	0.12066	-1.0562	10	0.27785	T	0.31	-16.2958	6.0696	0.19881	0.3661:0.1192:0.5147:0.0	.	171;334;289	B4DPS1;B8ZZN3;O75716	.;.;STK16_HUMAN	H	289;289;171;334;257	ENSP00000386928:Q289H;ENSP00000379964:Q289H;ENSP00000386309:Q171H;ENSP00000387156:Q334H;ENSP00000386553:Q257H	ENSP00000379964:Q289H	Q	+	3	2	STK16	219821474	0.996000	0.38824	0.957000	0.39632	0.020000	0.10135	0.920000	0.28705	0.028000	0.15324	-0.367000	0.07326	CAG	STK16	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000115661		0.562	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK16	HGNC	protein_coding	OTTHUMT00000335679.1	-	0	41	0	G			220113230	1	tier1	-	no_errors	ENST00000396738	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.912	T	T	220113230	G	T	220113230	3	4	180	1	0	0	0	0	1	0	0	0	15336	962	34	3	893	3	STK16	2	220113230	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	603820	220113230	23086143	45	44704											
STK11IP	114790	genome.wustl.edu	37	chr2	220479262	220479262	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctaccttcgggcgttcctgGttgaaggtgaagcctctgtg	5	13	13	10	2	2	2	0	2	2	0	4	2	3	2	3	3	2	2	3	3	3	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:220479262G>C	ENST00000456909.1	+	23	2953	c.2863G>C	c.(2863-2865)Gtt>Ctt	p.V955L	STK11IP_ENST00000295641.10_Missense_Mutation_p.V966L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	966					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)		GGCGTTCCTGGTTGAAGGTGA	0.562																																																	0													84	86	85					2																	220479262		2028	4195	6223	SO:0001583	missense	0			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.2863G>C	2.37:g.220479262G>C	ENSP00000389383:p.Val955Leu		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	NULL	p.V955L	ENST00000456909.1	37	c.2863		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.999530|1.999530	0.35320|0.35320	.|.	.|.	ENSG00000144589|ENSG00000144589	ENST00000456909;ENST00000295641|ENST00000447191	T;T|.	0.05513|.	3.44;3.43|.	4.72|4.72	3.82|3.82	0.43975|0.43975	.|.	0.444644|.	0.21785|.	N|.	0.069142|.	T|T	0.40171|0.40171	0.1106|0.1106	L|L	0.44542|0.44542	1.39|1.39	0.22479|0.22479	N|N	0.999063|0.999063	B|.	0.32101|.	0.356|.	B|.	0.29598|.	0.104|.	T|T	0.18903|0.18903	-1.0322|-1.0322	10|5	0.20519|.	T|.	0.43|.	-3.7487|-3.7487	8.9271|8.9271	0.35648|0.35648	0.1031:0.0:0.8969:0.0|0.1031:0.0:0.8969:0.0	.|.	966|.	Q8N1F8|.	S11IP_HUMAN|.	L|C	955;966|54	ENSP00000389383:V955L;ENSP00000295641:V966L|.	ENSP00000295641:V966L|.	V|W	+|+	1|3	0|0	STK11IP|STK11IP	220187506|220187506	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	0.788000|0.788000	0.26872|0.26872	2.435000|2.435000	0.82474|0.82474	0.655000|0.655000	0.94253|0.94253	GTT|TGG	STK11IP	-	NULL	ENSG00000144589		0.562	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1		0	65	0	G	NM_052902		220479262	1			no_errors	ENST00000456909	ensembl	human	novel	74_37	missense	8.33	33	3	SNP	1.000	C	C	220479262	G	C	220479262	3	2	180	1	0	0	0	0	1	0	0	0	15335	1261	44	5	2986	5	STK11IP	2	220479262	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	366032	220479262	22720111	46	44705											
ARMC9	80210	genome.wustl.edu	37	chr2	232146814	232146814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtacagcatcctttctGttccatccattcgtgaggaa	8	14	7	12	1	2	1	0	1	2	0	6	2	5	2	3	1	2	3	3	1	2	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr2:232146814G>T	ENST00000349938.4	+	17	1788	c.1594G>T	c.(1594-1596)Gtt>Ttt	p.V532F	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	532						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)		CATCCTTTCTGTTCCATCCAT	0.428																																																	0													158	153	155					2																	232146814		2203	4300	6503	SO:0001583	missense	0			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.1594G>T	2.37:g.232146814G>T	ENSP00000258417:p.Val532Phe		Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.V532F	ENST00000349938.4	37	c.1594	CCDS2484.1	2	.	.	.	.	.	.	.	.	.	.	G	9.793	1.178452	0.21787	.	.	ENSG00000135931	ENST00000349938;ENST00000359743	T	0.51325	0.71	5.45	-1.02	0.10135	Armadillo-like helical (1);Armadillo-type fold (1);	0.440517	0.26272	N	0.025327	T	0.32102	0.0818	N	0.25647	0.755	0.09310	N	0.999999	P	0.35077	0.483	B	0.36244	0.22	T	0.22800	-1.0206	10	0.54805	T	0.06	-4.275	10.8513	0.46771	0.4872:0.0:0.5128:0.0	.	532	Q7Z3E5	ARMC9_HUMAN	F	532	ENSP00000258417:V532F	ENSP00000258417:V532F	V	+	1	0	ARMC9	231855058	0.011000	0.17503	0.001000	0.08648	0.579000	0.36224	0.304000	0.19228	-0.335000	0.08451	-0.302000	0.09304	GTT	ARMC9	-	superfamily_ARM-type_fold	ENSG00000135931		0.428	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3	-	0	112	0	G	NM_025139		232146814	1	tier1	-	no_errors	ENST00000349938	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.003	T	T	232146814	G	T	232146814	3	4	180	1	0	0	0	0	1	0	0	0	959	1377	48	3	1656	3	ARMC9	2	232146814	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	11667552	232146814	11052559	47	44706											
TOP2B	7155	genome.wustl.edu	37	chr3	25674279	25674279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccacataatccacgtgccGtccaccctaaagaaaaaaaa	18	6	4	13	2	0	1	0	0	0	1	2	1	2	1	5	0	2	0	5	0	8	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr3:25674279G>A	ENST00000264331.4	-	9	1032	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	TOP2B_ENST00000435706.2_Missense_Mutation_p.R340W	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	345					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)	TCCACGTGCCGTCCACCCTAA	0.313																																																	0													128	122	124					3																	25674279		1840	4078	5918	SO:0001583	missense	0			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.1033C>T	3.37:g.25674279G>A	ENSP00000264331:p.Arg345Trp		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.R345W	ENST00000264331.4	37	c.1033		3	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846254	0.71603	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.46063	0.88;0.88	5.4	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76645	-0.2883	10	0.87932	D	0	-15.6821	12.8782	0.58001	0.0:0.0:0.7159:0.2841	.	340	Q02880-2	.	W	340;345;340	ENSP00000396704:R340W;ENSP00000264331:R345W	ENSP00000264331:R345W	R	-	1	2	TOP2B	25649283	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	3.724000	0.54962	2.513000	0.84729	0.650000	0.86243	CGG	TOP2B	-	pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,prints_Topo_IIA	ENSG00000077097		0.313	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		-	0	105	0	G			25674279	-1	tier1	-	no_errors	ENST00000264331	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	25674279	G	A	25674279	3	1	180	1	0	0	0	0	1	0	0	0	16414	1144	40	1	3959	1	TOP2B	3	25674279	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09		25674279	172348151	48	44707											
XIRP1	165904	genome.wustl.edu	37	chr3	39229916	39229916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgctgctgctgaacatCtggaccaggtgggataaggt	9	10	14	8	0	1	1	0	1	1	0	1	3	1	3	1	4	5	4	1	4	2	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr3:39229916C>A	ENST00000340369.3	-	2	1249	c.1021G>T	c.(1021-1023)Gat>Tat	p.D341Y	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.D341Y	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	341					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)		TGCTGAACATCTGGACCAGGT	0.582																																																	0													79	88	85					3																	39229916		2203	4300	6503	SO:0001583	missense	0			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.1021G>T	3.37:g.39229916C>A	ENSP00000343140:p.Asp341Tyr		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.D341Y	ENST00000340369.3	37	c.1021	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809185	0.70797	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.12361	2.69;2.97	4.89	4.89	0.63831	.	0.179859	0.47093	D	0.000242	T	0.25754	0.0627	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.01432	-1.1356	10	0.87932	D	0	.	13.9624	0.64188	0.0:1.0:0.0:0.0	.	341;341	Q702N8;Q702N8-2	XIRP1_HUMAN;.	Y	341	ENSP00000379550:D341Y;ENSP00000343140:D341Y	ENSP00000343140:D341Y	D	-	1	0	XIRP1	39204920	1.000000	0.71417	0.727000	0.30756	0.982000	0.71751	5.177000	0.65032	2.442000	0.82660	0.655000	0.94253	GAT	XIRP1	-	NULL	ENSG00000168334		0.582	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	-	0	47	0	C	XM_093522		39229916	-1	tier1	-	no_errors	ENST00000340369	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	A	A	39229916	C	A	39229916	3	1	180	1	0	0	0	0	1	0	0	0	17478	913	32	3	4514	3	XIRP1	3	39229916	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	13555637	39229916	158792514	49	44708											
HEMK1	51409	genome.wustl.edu	37	chr3	50616342	50616342	+	Frame_Shift_Del	DEL	C	C	-																															ccaggacatggagcagctggCccctgagatccgcaggtgct																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr3:50616342delC	ENST00000232854.4	+	8	1307	c.755delC	c.(754-756)gccfs	p.A252fs	HEMK1_ENST00000434410.1_Frame_Shift_Del_p.A252fs|HEMK1_ENST00000455834.1_Frame_Shift_Del_p.A252fs	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	252					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GAGCAGCTGGCCCCTGAGATC	0.617																																																	0													44	38	40					3																	50616342		2203	4300	6503	SO:0001589	frameshift_variant	0			AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.755delC	3.37:g.50616342delC	ENSP00000232854:p.Ala252fs			Frame_Shift_Del	DEL	pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK	p.P253fs	ENST00000232854.4	37	c.755	CCDS2830.1	3																																																																																			HEMK1	-	pfam_Small_mtfrase_dom,pfam_Methyltransf_11,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK	ENSG00000114735		0.617	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEMK1	HGNC	protein_coding	OTTHUMT00000346231.1		0	45	0	C	NM_016173		50616342	1	tier1		no_errors	ENST00000232854	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.998	-	-	50616342	C	-	50616342	7	5	180	1	0	1	0	1	0	0	0	0	7078	739	26	0	781	0	HEMK1	3	50616342	Frame_Shift_Del	DEL	C	TCGA-XP-A8T8-01A-11D-A36J-09	11386426	50616342	147406088	50	44709											
ABHD14B	84836	genome.wustl.edu	37	chr3	52003518	52003518	+	Frame_Shift_Del	DEL	G	G	-																															ccaggtaacaggggtgccccGcccccttcatgatcagcacc																								rs201010064		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr3:52003518delG	ENST00000483233.1	-	5	1063	c.557delC	c.(556-558)gcgfs	p.A186fs	ABHD14B_ENST00000487005.1_5'UTR|PCBP4_ENST00000395013.3_5'Flank|RP11-155D18.14_ENST00000489595.2_Intron|PCBP4_ENST00000428823.2_5'Flank|PCBP4_ENST00000355852.2_5'Flank|RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000461108.1_3'UTR|ABHD14B_ENST00000525795.1_Frame_Shift_Del_p.A186fs|ABHD14B_ENST00000315877.10_Frame_Shift_Del_p.A184fs|ABHD14B_ENST00000361143.5_Frame_Shift_Del_p.A186fs|PCBP4_ENST00000461554.1_5'Flank|ABHD14B_ENST00000395008.2_Frame_Shift_Del_p.A186fs|PCBP4_ENST00000484633.1_5'Flank			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	186					metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.A186V(1)		large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		GGGGTGCCCCGCCCCCTTCAT	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)											83	88	86					3																	52003518		2203	4300	6503	SO:0001589	frameshift_variant	0			AK075112	CCDS2842.1	3p21.2	2009-01-12			ENSG00000114779	ENSG00000114779		"Abhydrolase domain containing"	28235	protein-coding gene	gene with protein product							Standard	NM_032750		Approved	MGC15429, CIB	uc011bdy.2	Q96IU4	OTTHUMG00000157816	ENST00000483233.1:c.557delC	3.37:g.52003518delG	ENSP00000420065:p.Ala186fs		Q86VK8|Q8N8W5	Frame_Shift_Del	DEL	NULL	p.A186fs	ENST00000483233.1	37	c.557	CCDS2842.1	3																																																																																			ABHD14B	-	NULL	ENSG00000114779		0.612	ABHD14B-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABHD14B	HGNC	protein_coding	OTTHUMT00000349673.1		0	18	0	G	NM_032750		52003518	-1	tier1		no_errors	ENST00000361143	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	1.000	-	-	52003518	G	-	52003518	7	5	180	1	0	1	0	1	0	0	0	0	80	1087	38	0	79	0	ABHD14B	3	52003518	Frame_Shift_Del	DEL	G	TCGA-XP-A8T8-01A-11D-A36J-09	1387176	52003518	146018912	51	44710											
IL17RD	54756	genome.wustl.edu	37	chr3	57136596	57136596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatggccacggctctgatgGgcccggcccacggggagtgc	5	6	17	13	3	1	2	0	2	1	0	1	3	1	3	3	6	1	1	3	6	0	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr3:57136596G>T	ENST00000296318.7	-	10	978	c.890C>A	c.(889-891)cCc>cAc	p.P297H	IL17RD_ENST00000320057.5_Missense_Mutation_p.P153H|IL17RD_ENST00000463523.1_Missense_Mutation_p.P153H|IL17RD_ENST00000427856.2_Missense_Mutation_p.P273H	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	297					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)		GGCTCTGATGGGCCCGGCCCA	0.463																																																	0													51	54	53					3																	57136596		2203	4300	6503	SO:0001583	missense	0			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.890C>A	3.37:g.57136596G>T	ENSP00000296318:p.Pro297His		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	pfam_SEFIR,superfamily_TIR_dom	p.P297H	ENST00000296318.7	37	c.890	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	G	31	5.062726	0.93898	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.16324	2.35;2.36;2.36;2.36	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.03364	-1.1044	10	0.87932	D	0	-6.9731	19.5489	0.95310	0.0:0.0:1.0:0.0	.	153;297;273	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	H	297;153;273;153	ENSP00000296318:P297H;ENSP00000322250:P153H;ENSP00000399209:P273H;ENSP00000417516:P153H	ENSP00000296318:P297H	P	-	2	0	IL17RD	57111636	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.202000	0.95026	2.850000	0.98022	0.655000	0.94253	CCC	IL17RD	-	NULL	ENSG00000144730		0.463	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	-	0	99	0	G	NM_017563		57136596	-1	tier1	-	no_errors	ENST00000296318	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	57136596	G	T	57136596	3	4	180	1	0	0	0	0	1	0	0	0	7669	1232	43	3	1345	3	IL17RD	3	57136596	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	5133078	57136596	140885834	52	44711											
ZDHHC23	254887	genome.wustl.edu	37	chr3	113673114	113673114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacaaaggatgaccccaaGggctcttccaagatgccagc	14	5	9	13	0	1	2	0	1	1	1	2	3	2	3	4	2	3	1	4	2	4	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr3:113673114G>T	ENST00000330212.3	+	3	1028	c.729G>T	c.(727-729)aaG>aaT	p.K243N	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.K237N	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	243					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K243N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ATGACCCCAAGGGCTCTTCCA	0.602																																																	1	Substitution - Missense(1)	large_intestine(1)											68	67	67					3																	113673114		2203	4300	6503	SO:0001583	missense	0			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.729G>T	3.37:g.113673114G>T	ENSP00000330485:p.Lys243Asn		D3DN76	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.K243N	ENST00000330212.3	37	c.729	CCDS33827.1	3	.	.	.	.	.	.	.	.	.	.	G	3.846	-0.032730	0.07543	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.25414	1.8;1.8	5.11	4.24	0.50183	.	0.676707	0.14914	N	0.291068	T	0.18215	0.0437	L	0.29908	0.895	0.09310	N	1	B	0.32010	0.351	B	0.31495	0.131	T	0.15037	-1.0451	10	0.22706	T	0.39	-12.9346	10.4658	0.44607	0.1696:0.0:0.8304:0.0	.	243	Q8IYP9	ZDH23_HUMAN	N	243;237	ENSP00000330485:K243N;ENSP00000417840:K237N	ENSP00000330485:K243N	K	+	3	2	ZDHHC23	115155804	1.000000	0.71417	0.059000	0.19551	0.055000	0.15305	3.622000	0.54217	1.375000	0.46248	0.561000	0.74099	AAG	ZDHHC23	-	NULL	ENSG00000184307		0.602	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1		0	29	0	G	NM_173570		113673114	1			no_errors	ENST00000478793	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.160	T	T	113673114	G	T	113673114	3	4	180	1	0	0	0	0	1	0	0	0	17662	991	35	3	735	3	ZDHHC23	3	113673114	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	56536518	113673114	84349316	53	44712											
STXBP5L	9515	genome.wustl.edu	37	chr3	121100286	121100286	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctccttgtctgttcgttGgaaccagtctgggaatggtg	5	15	12	9	1	3	0	0	0	3	0	6	2	4	2	2	3	1	2	2	3	2	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr3:121100286G>C	ENST00000273666.6	+	23	2837	c.2566G>C	c.(2566-2568)Gga>Cga	p.G856R	STXBP5L_ENST00000472879.1_Missense_Mutation_p.G832R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G830R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G856R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G832R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	856					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)		TCTGTTCGTTGGAACCAGTCT	0.413																																																	0													187	175	179					3																	121100286		1895	4124	6019	SO:0001583	missense	0			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.2566G>C	3.37:g.121100286G>C	ENSP00000273666:p.Gly856Arg		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.G856R	ENST00000273666.6	37	c.2566	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843815	0.91197	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.1	5.1	0.69264	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75627	0.3875	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81136	-0.1070	10	0.87932	D	0	-17.3543	18.7084	0.91646	0.0:0.0:1.0:0.0	.	832;856	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	R	856;832;832;830;856;799	ENSP00000273666:G856R;ENSP00000420019:G832R;ENSP00000419627:G832R;ENSP00000420287:G830R;ENSP00000420666:G856R;ENSP00000420167:G799R	ENSP00000273666:G856R	G	+	1	0	STXBP5L	122582976	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.369000	0.97156	2.660000	0.90430	0.650000	0.86243	GGA	STXBP5L	-	pfam_Lgl_C_dom	ENSG00000145087		0.413	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	-	0	118	0	G			121100286	1	tier1	-	no_errors	ENST00000273666	ensembl	human	known	74_37	missense	12.60	111	16	SNP	1.000	C	C	121100286	G	C	121100286	3	2	180	1	0	0	0	0	1	0	0	0	15404	1349	47	5	2652	5	STXBP5L	3	121100286	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	7427172	121100286	76922144	54	44713											
SEMA5B	54437	genome.wustl.edu	37	chr3	122646663	122646663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccacttggagttatattggGcagtgcgaagcggtggccca	8	9	15	9	2	0	0	0	0	0	0	0	2	0	1	2	4	2	2	2	4	3	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr3:122646663G>T	ENST00000357599.3	-	8	1210	c.824C>A	c.(823-825)gCc>gAc	p.A275D	SEMA5B_ENST00000195173.4_Missense_Mutation_p.A275D|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A329D|AC078794.1_ENST00000408284.1_RNA	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	275	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTTATATTGGGCAGTGCGAAG	0.632																																																	0													51	53	53					3																	122646663		2203	4300	6503	SO:0001583	missense	0			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.824C>A	3.37:g.122646663G>T	ENSP00000350215:p.Ala275Asp		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.A329D	ENST00000357599.3	37	c.986	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918361	0.92249	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.17023	0.0409	N	0.17674	0.51	0.80722	D	1	P;P;P	0.51240	0.929;0.943;0.943	P;P;P	0.57548	0.729;0.823;0.823	T	0.03296	-1.1051	10	0.30078	T	0.28	.	18.6325	0.91364	0.0:0.0:1.0:0.0	.	217;275;275	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	D	275;275;217;329;275	ENSP00000350215:A275D;ENSP00000195173:A275D;ENSP00000389588:A329D;ENSP00000377208:A275D	ENSP00000195173:A275D	A	-	2	0	SEMA5B	124129353	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.859000	0.86982	2.882000	0.98803	0.655000	0.94253	GCC	SEMA5B	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000082684		0.632	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	-	0	68	0	G	NM_001031702		122646663	-1	tier1	-	no_errors	ENST00000451055	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	122646663	G	T	122646663	3	4	180	1	0	0	0	0	1	0	0	0	14083	1203	42	3	2695	3	SEMA5B	3	122646663	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	1546377	122646663	75375767	55	44714											
PCCB	5096	genome.wustl.edu	37	chr3	136012597	136012597	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaatcttttatttcaGgacacctcctacctgttcat	9	16	5	11	0	4	0	2	0	2	0	5	2	5	2	3	2	1	1	3	2	3	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr3:136012597G>T	ENST00000251654.4	+	7	724		c.e7-1		PCCB_ENST00000469217.1_Splice_Site|PCCB_ENST00000471595.1_Splice_Site|PCCB_ENST00000482086.1_Splice_Site|PCCB_ENST00000474833.1_Splice_Site|PCCB_ENST00000466072.1_Splice_Site|PCCB_ENST00000478469.1_Splice_Site|PCCB_ENST00000490504.1_Splice_Site|PCCB_ENST00000483687.1_Splice_Site|PCCB_ENST00000468777.1_Splice_Site|PCCB_ENST00000462637.1_Splice_Site	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide						biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)	p.?(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TTTTATTTCAGGACACCTCCT	0.493																																																	1	Unknown(1)	lung(1)											194	188	190					3																	136012597		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"propionyl Coenzyme A carboxylase, beta polypeptide"			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.655-1G>T	3.37:g.136012597G>T			B7Z2Z4|Q16813|Q96CX0	Splice_Site	SNP	-	e7-1	ENST00000251654.4	37	c.655-1	CCDS3089.1	3	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137824	0.77775	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217;ENST00000478469	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3137	0.90210	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCCB	137495287	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.004000	0.93583	2.482000	0.83794	0.650000	0.86243	.	PCCB	-	-	ENSG00000114054		0.493	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCCB	HGNC	protein_coding	OTTHUMT00000357335.1		0	59	0	G		Intron	136012597	1			no_errors	ENST00000251654	ensembl	human	known	74_37	splice_site	5.71	32	2	SNP	1.000	T	T	136012597	G	T	136012597	5	4	180	1	0	0	0	0	0	0	1	0	11544	1014	35	3	744	3	PCCB	3	136012597	Splice_Site	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	13365934	136012597	62009833	56	44715											
ZNF732	654254	genome.wustl.edu	37	chr4	265711	265711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggacctattaaagactttgCcacattcctgacatttgtag	11	14	7	9	0	0	2	0	1	0	1	1	3	1	3	3	1	1	1	3	1	4	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:265711C>A	ENST00000419098.1	-	4	945	c.935G>T	c.(934-936)gGc>gTc	p.G312V		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	312					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						AAAGACTTTGCCACATTCCTG	0.383																																																	0													71	66	67					4																	265711		692	1591	2283	SO:0001583	missense	0			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.935G>T	4.37:g.265711C>A	ENSP00000415774:p.Gly312Val			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G312V	ENST00000419098.1	37	c.935	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398411	0.42512	.	.	ENSG00000186777	ENST00000419098	T	0.01495	4.83	0.977	0.977	0.19733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	H	0.95816	3.725	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	T	0.00569	-1.1666	9	0.87932	D	0	.	7.3306	0.26580	0.0:1.0:0.0:0.0	.	312	B4DXR9	ZN732_HUMAN	V	312	ENSP00000415774:G312V	ENSP00000415774:G312V	G	-	2	0	ZNF732	255711	0.990000	0.36364	0.095000	0.20976	0.088000	0.18126	0.877000	0.28106	0.399000	0.25367	0.400000	0.26472	GGC	ZNF732	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186777		0.383	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	-	0	56	0	C	NM_001137608		265711	-1	tier1	-	no_errors	ENST00000419098	ensembl	human	known	74_37	missense	38.10	25	16	SNP	1.000	A	A	265711	C	A	265711	3	1	180	1	0	0	0	0	1	0	0	0	18171	739	26	3	826	3	ZNF732	4	265711	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09		265711	190888565	57	44716											
PDE6B	5158	genome.wustl.edu	37	chr4	657651	657651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgccacggacctggccctGtacttcaagtgcgcgccttc	6	9	10	16	4	1	0	1	0	0	0	3	1	1	1	4	2	2	1	4	2	2	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:657651G>A	ENST00000496514.1	+	16	2034	c.2013G>A	c.(2011-2013)ctG>ctA	p.L671L	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Silent_p.L671L|PDE6B_ENST00000429163.2_Silent_p.L392L			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	671					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)	ACCTGGCCCTGTACTTCAAGT	0.706																																					GBM(71;463 1194 9848 25922 46834)												0													39	39	39					4																	657651		2202	4300	6502	SO:0001819	synonymous_variant	0			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.2013G>A	4.37:g.657651G>A			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.L671	ENST00000496514.1	37	c.2013	CCDS33932.1	4																																																																																			PDE6B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000133256		0.706	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	-	0	53	0	G	NM_000283		657651	1	tier1	-	no_errors	ENST00000496514	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	A	A	657651	G	A	657651	2	1	180	1	0	0	0	0	0	0	0	1	11685	1364	48	3		3	PDE6B	4	657651	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	391940	657651	190496625	58	44717											
SLC2A9	56606	genome.wustl.edu	37	chr4	9982321	9982321	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggatctccttgggtgaGatctcactaaggtacatggg	9	10	12	10	1	2	1	1	1	2	1	4	3	2	2	2	4	1	1	2	4	2	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:9982321G>T	ENST00000264784.3	-	5	629	c.576C>A	c.(574-576)atC>atA	p.I192I	SLC2A9_ENST00000506583.1_Silent_p.I163I|SLC2A9_ENST00000309065.3_Silent_p.I163I	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	192					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)	p.I163I(1)|p.I192I(1)		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)	CCTTGGGTGAGATCTCACTAA	0.587																																																	2	Substitution - coding silent(2)	large_intestine(2)											70	64	66					4																	9982321		2203	4300	6503	SO:0001819	synonymous_variant	0			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.576C>A	4.37:g.9982321G>T			Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.I192	ENST00000264784.3	37	c.576	CCDS3407.1	4																																																																																			SLC2A9	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000109667		0.587	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	-	0	19	0	G			9982321	-1	tier1	-	no_errors	ENST00000264784	ensembl	human	known	74_37	silent	33.33	12	6	SNP	1.000	T	T	9982321	G	T	9982321	2	4	180	1	0	0	0	0	0	0	0	1	14597	932	33	3		3	SLC2A9	4	9982321	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	9324670	9982321	181171955	59	44718											
DHX15	1665	genome.wustl.edu	37	chr4	24578049	24578049	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	atgcactgtggaagtgacgtGtgacctgcatgtccggcatg	8	10	14	9	2	0	2	0	2	0	0	1	3	1	3	2	2	2	3	2	2	1	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:24578049G>T	ENST00000336812.4	-	2	480	c.324C>A	c.(322-324)caC>caA	p.H108Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	108					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.H108H(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GAAGTGACGTGTGACCTGCAT	0.463																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											299	279	286					4																	24578049		2203	4300	6503	SO:0001583	missense	0			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.324C>A	4.37:g.24578049G>T	ENSP00000336741:p.His108Gln		Q9NQT7	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H108Q	ENST00000336812.4	37	c.324	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	G	7.103	0.574387	0.13623	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.09350	2.99	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000006	T	0.04815	0.0130	N	0.08118	0	0.29307	N	0.868297	B	0.02656	0.0	B	0.01281	0.0	T	0.34453	-0.9828	10	0.13470	T	0.59	-24.1698	7.5013	0.27520	0.0826:0.0:0.7059:0.2114	.	108	O43143	DHX15_HUMAN	Q	108;97	ENSP00000336741:H108Q	ENSP00000336741:H108Q	H	-	3	2	DHX15	24187147	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.705000	0.54823	2.546000	0.85860	0.655000	0.94253	CAC	DHX15	-	NULL	ENSG00000109606		0.463	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	-	0	109	0	G	NM_001358		24578049	-1	tier1	-	no_errors	ENST00000336812	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	24578049	G	T	24578049	3	4	180	1	0	0	0	0	1	0	0	0	4515	1368	48	3	2115	3	DHX15	4	24578049	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	14595728	24578049	166576227	60	44719											
SEL1L3	23231	genome.wustl.edu	37	chr4	25759360	25759360	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aagccgcaagtgcaggtaaaGccaggccaaggagcaggggc	13	2	16	10	1	0	0	0	0	0	0	0	1	0	1	3	5	4	4	3	5	5	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:25759360G>T	ENST00000399878.3	-	22	3258	c.3136C>A	c.(3136-3138)Ctt>Att	p.L1046I	SEL1L3_ENST00000502949.1_Missense_Mutation_p.L893I|SEL1L3_ENST00000264868.5_Missense_Mutation_p.L1011I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	1046						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGCAGGTAAAGCCAGGCCAAG	0.607																																																	0													52	66	61					4																	25759360		2090	4210	6300	SO:0001583	missense	0			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.3136C>A	4.37:g.25759360G>T	ENSP00000382767:p.Leu1046Ile		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.L1046I	ENST00000399878.3	37	c.3136	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273704	0.40194	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.16324	2.56;2.57;2.35	5.61	3.49	0.39957	.	0.353722	0.30611	N	0.009257	T	0.10208	0.0250	L	0.28274	0.84	0.30965	N	0.723244	B;B	0.25772	0.018;0.134	B;B	0.17433	0.008;0.018	T	0.09840	-1.0656	10	0.26408	T	0.33	-13.9398	7.9677	0.30109	0.1096:0.0:0.7392:0.1513	.	453;1046	B4DTH5;Q68CR1	.;SE1L3_HUMAN	I	1046;1011;893	ENSP00000382767:L1046I;ENSP00000264868:L1011I;ENSP00000425438:L893I	ENSP00000264868:L1011I	L	-	1	0	SEL1L3	25368458	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	1.106000	0.31098	1.482000	0.48325	0.655000	0.94253	CTT	SEL1L3	-	NULL	ENSG00000091490		0.607	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	-	0	61	0	G	NM_015187		25759360	-1	tier1	-	no_errors	ENST00000399878	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.998	T	T	25759360	G	T	25759360	3	4	180	1	0	0	0	0	1	0	0	0	14057	971	34	3	274	3	SEL1L3	4	25759360	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	1181311	25759360	165394916	61	44720											
WDR19	57728	genome.wustl.edu	37	chr4	39276490	39276490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggcctgaagaactctGctttcagcttcgcagctatg	8	10	12	11	1	2	2	1	1	1	1	3	2	2	2	1	2	4	5	1	2	3	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:39276490G>A	ENST00000399820.3	+	33	3782	c.3628G>A	c.(3628-3630)Gct>Act	p.A1210T	WDR19_ENST00000288634.7_Missense_Mutation_p.A1050T	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1210					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						GAAGAACTCTGCTTTCAGCTT	0.483																																																	0													146	135	139					4																	39276490		1973	4176	6149	SO:0001583	missense	0			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.3628G>A	4.37:g.39276490G>A	ENSP00000382717:p.Ala1210Thr		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.A1210T	ENST00000399820.3	37	c.3628	CCDS47042.1	4	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034352	0.93575	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.80123	-1.32;-1.34	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.92011	0.7469	M	0.90759	3.145	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.93025	0.6443	10	0.87932	D	0	-17.1672	19.7838	0.96428	0.0:0.0:1.0:0.0	.	1210	Q8NEZ3	WDR19_HUMAN	T	1210;1050	ENSP00000382717:A1210T;ENSP00000288634:A1050T	ENSP00000288634:A1050T	A	+	1	0	WDR19	38952885	1.000000	0.71417	0.358000	0.25811	0.989000	0.77384	5.344000	0.65981	2.664000	0.90586	0.591000	0.81541	GCT	WDR19	-	NULL	ENSG00000157796		0.483	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1	-	0	76	0	G			39276490	1	tier1	-	no_errors	ENST00000399820	ensembl	human	known	74_37	missense	35.71	27	15	SNP	0.999	A	A	39276490	G	A	39276490	3	1	180	1	0	0	0	0	1	0	0	0	17328	1319	46	3	3758	3	WDR19	4	39276490	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	13517130	39276490	151877786	62	44721											
CWH43	80157	genome.wustl.edu	37	chr4	49005812	49005812	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggcagctgctgtgtctggctGtgtcttcgccatctttactg	3	15	12	11	1	3	0	0	0	3	0	4	0	3	0	1	2	3	4	1	2	1	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:49005812G>T	ENST00000226432.4	+	7	1046	c.863G>T	c.(862-864)tGt>tTt	p.C288F	CWH43_ENST00000513409.1_Missense_Mutation_p.C261F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	288					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.C288Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GTGTCTGGCTGTGTCTTCGCC	0.502																																																	1	Substitution - Missense(1)	lung(1)											100	87	91					4																	49005812		2203	4300	6503	SO:0001583	missense	0				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.863G>T	4.37:g.49005812G>T	ENSP00000226432:p.Cys288Phe		B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.C288F	ENST00000226432.4	37	c.863	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	2.481	-0.319685	0.05386	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.41065	1.59;1.01	3.91	2.07	0.26955	.	0.883778	0.09820	N	0.751636	T	0.33644	0.0870	L	0.57536	1.79	0.09310	N	1	P	0.41265	0.744	B	0.38378	0.272	T	0.31392	-0.9945	9	.	.	.	.	1.4026	0.02274	0.139:0.2223:0.4111:0.2276	.	288	Q9H720	PG2IP_HUMAN	F	288;261	ENSP00000226432:C288F;ENSP00000422802:C261F	.	C	+	2	0	CWH43	48700569	0.819000	0.29175	0.034000	0.17996	0.002000	0.02628	1.213000	0.32407	0.553000	0.29044	-0.293000	0.09583	TGT	CWH43	-	NULL	ENSG00000109182		0.502	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2		0	49	0	G	NM_025087		49005812	1			no_errors	ENST00000226432	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.029	T	T	49005812	G	T	49005812	3	4	180	1	0	0	0	0	1	0	0	0	4082	1377	48	3	889	3	CWH43	4	49005812	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	9729322	49005812	142148464	63	44722											
CWH43	80157	genome.wustl.edu	37	chr4	49030703	49030703	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtttggatatgacaatGaagggtggtctagtctagaa	12	12	13	4	0	3	3	1	2	2	1	3	4	3	4	0	4	0	1	0	4	6	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:49030703G>T	ENST00000226432.4	+	10	1507	c.1324G>T	c.(1324-1326)Gaa>Taa	p.E442*	CWH43_ENST00000513409.1_Nonsense_Mutation_p.E415*	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	442					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						ATATGACAATGAAGGGTGGTC	0.413																																																	0													99	93	95					4																	49030703		2203	4300	6503	SO:0001587	stop_gained	0				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.1324G>T	4.37:g.49030703G>T	ENSP00000226432:p.Glu442*		B2RPD7	Nonsense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.E442*	ENST00000226432.4	37	c.1324	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	40	8.031312	0.98619	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	4.72	4.72	0.59763	.	0.094992	0.45361	D	0.000363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4187	0.83751	0.0:0.0:1.0:0.0	.	.	.	.	X	442;415	.	.	E	+	1	0	CWH43	48725460	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.980000	0.70516	2.634000	0.89283	0.462000	0.41574	GAA	CWH43	-	NULL	ENSG00000109182		0.413	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2		0	73	0	G	NM_025087		49030703	1			no_errors	ENST00000226432	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	T	T	49030703	G	T	49030703	4	4	180	1	0	0	0	0	0	1	0	0	4082	1291	45	3	1362	3	CWH43	4	49030703	Nonsense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	24891	49030703	142123573	64	44723											
COX18	285521	genome.wustl.edu	37	chr4	73930518	73930518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cactattaacaaattgatgaCgccaacagagataggcagaa	18	7	8	8	1	0	4	0	2	0	2	0	5	0	4	1	1	2	1	1	1	6	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:73930518C>T	ENST00000295890.4	-	4	788	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	COX18_ENST00000507544.2_Missense_Mutation_p.V234I	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	233					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAATTGATGACGCCAACAGAG	0.403																																																	0													72	70	71					4																	73930518		2203	4300	6503	SO:0001583	missense	0			AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"Mitochondrial respiratory chain complex assembly factors"	26801	protein-coding gene	gene with protein product		610428	"COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)", "cytochrome c oxidase assembly homolog 18 (yeast)"			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.697G>A	4.37:g.73930518C>T	ENSP00000295890:p.Val233Ile		Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Missense_Mutation	SNP	pfam_Membrane_insert_OXA1/ALB3/YidC	p.V233I	ENST00000295890.4	37	c.697	CCDS3554.1	4	.	.	.	.	.	.	.	.	.	.	C	8.681	0.905131	0.17760	.	.	ENSG00000163626	ENST00000295890;ENST00000507544	.	.	.	5.45	3.33	0.38152	.	0.252757	0.39985	N	0.001219	T	0.17450	0.0419	N	0.02916	-0.46	0.38557	D	0.949616	B;B	0.10296	0.001;0.003	B;B	0.11329	0.006;0.006	T	0.12142	-1.0559	9	0.07030	T	0.85	-17.4614	6.1089	0.20090	0.0:0.5374:0.2604:0.2022	.	234;233	B7ZL88;Q8N8Q8	.;COX18_HUMAN	I	233;234	.	ENSP00000295890:V233I	V	-	1	0	COX18	74149382	0.995000	0.38212	0.989000	0.46669	0.714000	0.41099	0.844000	0.27654	1.414000	0.47017	0.650000	0.86243	GTC	COX18	-	pfam_Membrane_insert_OXA1/ALB3/YidC	ENSG00000163626		0.403	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COX18	HGNC	protein_coding	OTTHUMT00000252169.2	-	0	79	0	C	NM_173827		73930518	-1	tier1	-	no_errors	ENST00000295890	ensembl	human	known	74_37	missense	48.84	22	21	SNP	0.991	T	T	73930518	C	T	73930518	3	4	180	1	0	0	0	0	1	0	0	0	3774	536	19	1	316	1	COX18	4	73930518	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	24899815	73930518	117223758	65	44724											
CNOT6L	246175	genome.wustl.edu	37	chr4	78678024	78678024	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaacagttacctgcgagaTtgtcaagcatgaagttcagt	13	11	9	8	1	2	2	2	1	0	1	2	3	2	2	1	0	4	3	1	0	4	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:78678024T>C	ENST00000504123.1	-	5	612	c.482A>G	c.(481-483)aAt>aGt	p.N161S	CNOT6L_ENST00000264903.4_Missense_Mutation_p.N161S|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	161	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						ACCTGCGAGATTGTCAAGCAT	0.363																																																	0													79	73	75					4																	78678024		1853	4088	5941	SO:0001583	missense	0			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.482A>G	4.37:g.78678024T>C	ENSP00000424896:p.Asn161Ser		Q9UF92	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.N161S	ENST00000504123.1	37	c.482		4	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941414	0.53079	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441	T;T;T;T	0.32753	1.44;1.44;1.59;2.1	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	M	0.63208	1.945	0.80722	D	1	P;B;B	0.35507	0.506;0.199;0.365	B;B;B	0.35114	0.196;0.177;0.115	T	0.18999	-1.0319	10	0.54805	T	0.06	-12.6237	14.014	0.64513	0.0:0.0:0.0:1.0	.	161;134;161	B4E2S0;Q96LI5-2;Q96LI5	.;.;CNO6L_HUMAN	S	161;161;168;161	ENSP00000424896:N161S;ENSP00000264903:N161S;ENSP00000425571:N168S;ENSP00000426269:N161S	ENSP00000264903:N161S	N	-	2	0	CNOT6L	78897048	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.129000	0.77225	1.968000	0.57251	0.377000	0.23210	AAT	CNOT6L	-	NULL	ENSG00000138767		0.363	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	CNOT6L	HGNC	protein_coding	OTTHUMT00000362515.1	-	0	75	0	T			78678024	-1	tier1	-	no_errors	ENST00000264903	ensembl	human	known	74_37	missense	54.17	33	39	SNP	1.000	C	C	78678024	T	C	78678024	3	2	180	1	0	0	0	0	1	0	0	0	3630	1493	52	4	1217	4	CNOT6L	4	78678024	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	4747506	78678024	112476252	66	44725											
UNC5C	8633	genome.wustl.edu	37	chr4	96127865	96127865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcagtgatgcatagtgaggaCgactgggcgggtgagcagag	10	6	19	6	2	0	4	0	3	0	1	0	6	0	5	0	3	2	3	0	3	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:96127865C>T	ENST00000453304.1	-	11	2164	c.1816G>A	c.(1816-1818)Gtc>Atc	p.V606I		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	606	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATAGTGAGGACGACTGGGCGG	0.592																																																	0													80	73	75					4																	96127865		2203	4300	6503	SO:0001583	missense	0			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1816G>A	4.37:g.96127865C>T	ENSP00000406022:p.Val606Ile		Q8IUT0	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.V606I	ENST00000453304.1	37	c.1816	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.539182	0.00942	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.39056	1.1;1.1	5.28	1.27	0.21489	ZU5 (3);	0.225652	0.43919	N	0.000508	T	0.10723	0.0262	N	0.00642	-1.3	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.38499	-0.9658	10	0.02654	T	1	.	9.6193	0.39712	0.0:0.2748:0.0:0.7252	.	606;606	A8K385;O95185	.;UNC5C_HUMAN	I	606;565;625	ENSP00000406022:V606I;ENSP00000426924:V625I	ENSP00000328673:V565I	V	-	1	0	UNC5C	96346888	1.000000	0.71417	0.977000	0.42913	0.131000	0.20780	1.411000	0.34702	0.085000	0.17107	-0.440000	0.05779	GTC	UNC5C	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000182168		0.592	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	HGNC	protein_coding	OTTHUMT00000253607.1	-	0	82	0	C	NM_003728		96127865	-1	tier1	-	no_errors	ENST00000453304	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.988	T	T	96127865	C	T	96127865	3	4	180	1	0	0	0	0	1	0	0	0	17042	536	19	1	1003	1	UNC5C	4	96127865	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	17449841	96127865	95026411	67	44726											
LARP7	51574	genome.wustl.edu	37	chr4	113574320	113574320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctagatttaaaactcctgagGatgctcaagcagtaataaat	16	11	7	7	0	1	2	1	1	0	1	2	3	2	3	1	1	3	3	1	1	7	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:113574320G>T	ENST00000344442.5	+	11	1782	c.1504G>T	c.(1504-1506)Gat>Tat	p.D502Y	LARP7_ENST00000324052.6_Missense_Mutation_p.D502Y|LARP7_ENST00000509061.1_Missense_Mutation_p.D509Y	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	502					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)		AACTCCTGAGGATGCTCAAGC	0.373																																																	0													79	85	83					4																	113574320		2203	4300	6503	SO:0001583	missense	0			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.1504G>T	4.37:g.113574320G>T	ENSP00000344950:p.Asp502Tyr		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La	p.D502Y	ENST00000344442.5	37	c.1504	CCDS3701.2	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.105108|4.105108	0.77096|0.77096	.|.	.|.	ENSG00000174720|ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000324052|ENST00000511529	T;T;T|.	0.51574|.	0.7;0.7;0.7|.	5.35|5.35	4.51|4.51	0.55191|0.55191	Nucleotide-binding, alpha-beta plait (1);RNA-binding motif (1);|.	0.104995|.	0.64402|.	D|.	0.000006|.	T|T	0.73345|0.73345	0.3575|0.3575	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72625|.	0.978|.	T|T	0.74044|0.74044	-0.3791|-0.3791	10|5	0.66056|.	D|.	0.02|.	-26.85|-26.85	13.7953|13.7953	0.63166|0.63166	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	502|.	Q4G0J3|.	LARP7_HUMAN|.	Y|S	502;509;502|295	ENSP00000344950:D502Y;ENSP00000422626:D509Y;ENSP00000314311:D502Y|.	ENSP00000314311:D502Y|.	D|R	+|+	1|3	0|2	LARP7|LARP7	113793769|113793769	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.998000|0.998000	0.95712|0.95712	8.850000|8.850000	0.92190|0.92190	1.257000|1.257000	0.44085|0.44085	0.591000|0.591000	0.81541|0.81541	GAT|AGG	LARP7	-	pfam_RRM_3	ENSG00000174720		0.373	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2		0	85	0	G	NM_016648		113574320	1			no_errors	ENST00000324052	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	113574320	G	T	113574320	3	4	180	1	0	0	0	0	1	0	0	0	8661	1174	41	3	1542	3	LARP7	4	113574320	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	17446455	113574320	77579956	68	44727											
TBC1D9	23158	genome.wustl.edu	37	chr4	141590791	141590791	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgagaggcacccaccaaTttcgggttgaactcctcggg	10	8	12	11	2	0	2	0	2	0	1	3	3	1	2	3	3	1	2	3	3	3	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:141590791T>C	ENST00000442267.2	-	8	1508	c.1434A>G	c.(1432-1434)aaA>aaG	p.K478K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	478							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)				CACCCACCAATTTCGGGTTGA	0.458																																																	0													40	44	42					4																	141590791		1983	4143	6126	SO:0001819	synonymous_variant	0			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.1434A>G	4.37:g.141590791T>C			A6H8U8|D3DNZ1|O94958	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.K478	ENST00000442267.2	37	c.1434	CCDS47136.1	4																																																																																			TBC1D9	-	NULL	ENSG00000109436		0.458	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	-	0	65	0	T	NM_015130		141590791	-1	tier1	-	no_errors	ENST00000442267	ensembl	human	known	74_37	silent	37.93	36	22	SNP	0.994	C	C	141590791	T	C	141590791	2	2	180	1	0	0	0	0	0	0	0	1	15674	1490	52	4		4	TBC1D9	4	141590791	Silent	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	28016471	141590791	49563485	69	44728											
TTC29	83894	genome.wustl.edu	37	chr4	147795959	147795959	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtctgagagtaatctgtaAgtcctcaggagactctcaca	11	12	9	9	0	4	2	2	1	3	2	6	4	5	2	1	1	0	2	1	1	2	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr4:147795959A>T	ENST00000325106.4	-	7	934	c.708T>A	c.(706-708)acT>acA	p.T236T	TTC29_ENST00000513335.1_Silent_p.T262T|TTC29_ENST00000398886.4_Silent_p.T262T	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	236										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)					GTAATCTGTAAGTCCTCAGGA	0.423																																																	0													72	67	68					4																	147795959		1823	4088	5911	SO:0001819	synonymous_variant	0			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.708T>A	4.37:g.147795959A>T			A4GU95|Q9BXB6	Silent	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.T262	ENST00000325106.4	37	c.786	CCDS47141.1	4																																																																																			TTC29	-	pfscan_TPR-contain_dom	ENSG00000137473		0.423	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC29	HGNC	protein_coding		-	0	48	0	A	NM_031956		147795959	-1	tier1	-	no_errors	ENST00000398886	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.870	T	T	147795959	A	T	147795959	2	4	180	1	0	0	0	0	0	0	0	1	16745	59	3	5		5	TTC29	4	147795959	Silent	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	6205168	147795959	43358317	70	44729											
SEMA5A	9037	genome.wustl.edu	37	chr5	9063121	9063121	+	Missense_Mutation	SNP	T	T	G	0	1	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	tccgaatgcccctgctgcagTcacggctgcactgtgaccac	7	8	10	16	2	1	1	1	1	0	0	2	2	2	1	4	1	4	4	4	1	1	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:9063121T>G	ENST00000382496.5	-	18	3061	c.2396A>C	c.(2395-2397)gAc>gCc	p.D799A		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	799	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCTGCTGCAGTCACGGCTGCA	0.597																																																	0													85	68	74					5																	9063121		2203	4300	6503	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2396A>C	5.37:g.9063121T>G	ENSP00000371936:p.Asp799Ala		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.D799A	ENST00000382496.5	37	c.2396	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	T	19.36	3.811799	0.70797	.	.	ENSG00000112902	ENST00000382496	T	0.51574	0.7	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	N	0.25201	0.72	0.58432	D	0.999995	P	0.40282	0.711	B	0.42214	0.38	T	0.39333	-0.9619	10	0.62326	D	0.03	.	13.8294	0.63370	0.0:0.0:0.0:1.0	.	799	Q13591	SEM5A_HUMAN	A	799	ENSP00000371936:D799A	ENSP00000371936:D799A	D	-	2	0	SEMA5A	9116121	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.051000	0.71072	2.149000	0.67028	0.533000	0.62120	GAC	SEMA5A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000112902		0.597	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	-	0	70	0	T			9063121	-1	tier1	-	no_errors	ENST00000382496	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	G	G	9063121	T	G	9063121	3	3	180	1	0	0	0	0	1	0	0	0	14082	1667	58	4	852	4	SEMA5A	5	9063121	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09		9063121	171852139	71	44730											
PRDM9	56979	genome.wustl.edu	37	chr5	23522934	23522934	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctgggtctgcactttggCccttatgagggccgaattac	6	11	12	12	2	1	1	0	1	1	0	1	2	1	1	3	3	2	2	3	3	3	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:23522934C>T	ENST00000296682.3	+	8	1004	c.822C>T	c.(820-822)ggC>ggT	p.G274G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	274	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGCACTTTGGCCCTTATGAGG	0.562										HNSCC(3;0.000094)																																							0													74	74	74					5																	23522934		2203	4300	6503	SO:0001819	synonymous_variant	0			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.822C>T	5.37:g.23522934C>T			B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.G274	ENST00000296682.3	37	c.822	CCDS43307.1	5																																																																																			PRDM9	-	pfscan_SET_dom	ENSG00000164256		0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	78	0	C	NM_020227		23522934	1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	silent	15.32	94	17	SNP	0.990	T	T	23522934	C	T	23522934	2	4	180	1	0	0	0	0	0	0	0	1	12505	726	26	3		3	PRDM9	5	23522934	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	14459813	23522934	157392326	72	44731											
PRDM9	56979	genome.wustl.edu	37	chr5	23527045	23527045	+	Silent	SNP	C	C	A	0	0	0	1	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	tgcagggagtgtgggcggggCtttagccggcagtcagtcct	5	9	18	9	2	1	0	1	0	0	0	2	1	2	1	2	5	2	3	2	5	1	2	rs545024531		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:23527045C>A	ENST00000296682.3	+	11	2030	c.1848C>A	c.(1846-1848)ggC>ggA	p.G616G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	616					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						GTGGGCGGGGCTTTAGCCGGC	0.627										HNSCC(3;0.000094)																																							0													26	27	27					5																	23527045		1664	3571	5235	SO:0001819	synonymous_variant	0			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.1848C>A	5.37:g.23527045C>A			B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.G616	ENST00000296682.3	37	c.1848	CCDS43307.1	5																																																																																			PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.627	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	144	0	C	NM_020227		23527045	1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	silent	10.11	167	19	SNP	0.948	A	A	23527045	C	A	23527045	2	1	180	1	0	0	0	0	0	0	0	1	12505	784	28	3		3	PRDM9	5	23527045	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	4111	23527045	157388215	73	44732											
GCNT4	51301	genome.wustl.edu	37	chr5	74325366	74325366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtatcaggtgccttaCgatcataatggatgcagtaa	13	11	11	6	1	2	1	2	1	0	0	2	3	2	2	1	3	3	3	1	3	5	4	rs556467713		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:74325366C>T	ENST00000322348.4	-	1	1358	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	166					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)		AGGTGCCTTACGATCATAATG	0.383													c|||	1	0.000199681	8e-04	0	5008	,	,		22239	0		0	False		,,,				2504	0																0													152	148	149					5																	74325366		2203	4300	6503	SO:0001583	missense	0			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.497G>A	5.37:g.74325366C>T	ENSP00000317027:p.Arg166His			Missense_Mutation	SNP	pfam_Glyco_trans_14	p.R166H	ENST00000322348.4	37	c.497	CCDS4026.1	5	.	.	.	.	.	.	.	.	.	.	.	11.34	1.609358	0.28623	.	.	ENSG00000176928	ENST00000322348	T	0.11821	2.74	6.17	-4.36	0.03645	.	0.565448	0.20533	N	0.090470	T	0.09379	0.0231	L	0.43923	1.385	0.09310	N	0.999997	B	0.10296	0.003	B	0.09377	0.004	T	0.22452	-1.0216	10	0.51188	T	0.08	-16.1396	8.0673	0.30667	0.2533:0.1132:0.0:0.6335	.	166	Q9P109	GCNT4_HUMAN	H	166	ENSP00000317027:R166H	ENSP00000317027:R166H	R	-	2	0	GCNT4	74361122	0.122000	0.22280	0.017000	0.16124	0.918000	0.54935	0.486000	0.22340	-0.416000	0.07473	0.655000	0.94253	CGT	GCNT4	-	pfam_Glyco_trans_14	ENSG00000176928		0.383	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT4	HGNC	protein_coding	OTTHUMT00000254040.1		0	38	0	C	NM_016591		74325366	-1			no_errors	ENST00000322348	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.023	T	T	74325366	C	T	74325366	3	4	180	1	0	0	0	0	1	0	0	0	6328	536	19	1	868	1	GCNT4	5	74325366	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	50798321	74325366	106589894	74	44733											
PCSK1	5122	genome.wustl.edu	37	chr5	95728920	95728920	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggacttctttggtgattGctttggcggtgagtttttac	4	18	14	5	1	1	2	0	2	1	0	1	3	1	3	0	5	2	2	0	5	1	7			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:95728920G>A	ENST00000311106.3	-	14	2284	c.2047C>T	c.(2047-2049)Caa>Taa	p.Q683*	PCSK1_ENST00000508626.1_Nonsense_Mutation_p.Q636*|PCSK1_ENST00000513085.1_5'UTR|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	683					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)"	TTTGGTGATTGCTTTGGCGGT	0.522																																																	0													112	116	115					5																	95728920		2203	4300	6503	SO:0001587	stop_gained	0				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.2047C>T	5.37:g.95728920G>A	ENSP00000308024:p.Gln683*		B7Z8T7|E9PHA1|P78478|Q92532	Nonsense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.Q683*	ENST00000311106.3	37	c.2047	CCDS4081.1	5	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700882	0.88924	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	.	.	.	5.62	5.62	0.85841	.	0.675310	0.15902	N	0.239019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-0.754	19.2582	0.93955	0.0:0.0:1.0:0.0	.	.	.	.	X	683;636	.	ENSP00000308024:Q683X	Q	-	1	0	PCSK1	95754676	0.996000	0.38824	0.399000	0.26333	0.009000	0.06853	6.611000	0.74183	2.625000	0.88918	0.655000	0.94253	CAA	PCSK1	-	NULL	ENSG00000175426		0.522	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK1	HGNC	protein_coding	OTTHUMT00000242851.1		0	92	0	G	NM_000439		95728920	-1			no_errors	ENST00000311106	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.143	A	A	95728920	G	A	95728920	4	1	180	1	0	0	0	0	0	1	0	0	11639	1328	46	3	218	3	PCSK1	5	95728920	Nonsense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	21403554	95728920	85186340	75	44734											
DMXL1	1657	genome.wustl.edu	37	chr5	118485616	118485616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctctgaatgaagctgaatCtaatcatgaacgccgcctta	12	10	9	10	2	3	4	1	4	2	0	3	4	3	4	2	1	2	2	2	1	6	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:118485616C>G	ENST00000311085.8	+	18	4174	c.4094C>G	c.(4093-4095)tCt>tGt	p.S1365C	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1365C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1365										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)		GAAGCTGAATCTAATCATGAA	0.473																																																	0													82	81	82					5																	118485616		2202	4299	6501	SO:0001583	missense	0			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.4094C>G	5.37:g.118485616C>G	ENSP00000309690:p.Ser1365Cys			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1365C	ENST00000311085.8	37	c.4094	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827054	0.50739	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.44881	0.91;0.91	5.56	4.69	0.59074	.	0.269872	0.44285	D	0.000465	T	0.54078	0.1836	L	0.47716	1.5	0.36582	D	0.87359	D;D	0.69078	0.997;0.996	P;P	0.62649	0.846;0.905	T	0.63673	-0.6584	10	0.54805	T	0.06	-2.0893	13.7366	0.62821	0.0:0.926:0.0:0.074	.	1365;1365	F5H269;Q9Y485	.;DMXL1_HUMAN	C	1365	ENSP00000309690:S1365C;ENSP00000439479:S1365C	ENSP00000309690:S1365C	S	+	2	0	DMXL1	118513515	1.000000	0.71417	0.988000	0.46212	0.935000	0.57460	2.766000	0.47629	1.493000	0.48517	0.655000	0.94253	TCT	DMXL1	-	pfam_Rav1p_C	ENSG00000172869		0.473	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	-	0	66	0	C	NM_005509		118485616	1	tier1	-	no_errors	ENST00000539542	ensembl	human	known	74_37	missense	34.62	34	18	SNP	0.996	G	G	118485616	C	G	118485616	3	3	180	1	0	0	0	0	1	0	0	0	4608	913	32	5	4164	5	DMXL1	5	118485616	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	22756696	118485616	62429644	76	44735											
PCDHA8	56140	genome.wustl.edu	37	chr5	140221052	140221052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	caccttcgtgggccggatcgCgcaggacctggggctggagc	5	6	17	13	4	0	0	0	0	0	0	2	3	0	3	3	6	1	2	3	6	0	1	rs562900530		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:140221052C>T	ENST00000531613.1	+	1	146	c.146C>T	c.(145-147)gCg>gTg	p.A49V	PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A49V|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|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	49	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)			GGCCGGATCGCGCAGGACCTG	0.667													.|||	1	0.000199681	0	0	5008	,	,		15147	0		0	False		,,,				2504	0.001																0													39	48	45					5																	140221052		2202	4298	6500	SO:0001583	missense	0			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.146C>T	5.37:g.140221052C>T	ENSP00000434655:p.Ala49Val		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A49V	ENST00000531613.1	37	c.146	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.164728	0.94727	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53423	0.62;0.62	3.95	3.95	0.45737	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.36444	U	0.002584	T	0.70894	0.3276	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65140	0.932;0.819	T	0.79317	-0.1853	10	0.87932	D	0	.	16.3451	0.83120	0.0:1.0:0.0:0.0	.	49;49	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	V	49	ENSP00000434655:A49V;ENSP00000367363:A49V	ENSP00000367363:A49V	A	+	2	0	PCDHA8	140201236	1.000000	0.71417	0.991000	0.47740	0.938000	0.57974	4.864000	0.62990	1.905000	0.55150	0.557000	0.71058	GCG	PCDHA8	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204962		0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	-	0	143	0	C	NM_018911		140221052	1	tier1	-	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	5.62	84	5	SNP	0.997	T	T	140221052	C	T	140221052	3	4	180	1	0	0	0	0	1	0	0	0	11569	768	27	1	148	1	PCDHA8	5	140221052	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	21735436	140221052	40694208	77	44736											
SLC25A2	83884	genome.wustl.edu	37	chr5	140683267	140683267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	gccccggagacccacttgggCgtatgtcttcaggaagcagt	8	8	13	12	2	2	1	1	0	1	1	2	3	2	2	3	3	1	2	3	3	2	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:140683267C>A	ENST00000239451.4	-	1	345	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	56					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)	CCCACTTGGGCGTATGTCTTC	0.572																																																	0													80	78	79					5																	140683267		2203	4300	6503	SO:0001583	missense	0			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.166G>T	5.37:g.140683267C>A	ENSP00000239451:p.Ala56Ser		Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.A56S	ENST00000239451.4	37	c.166	CCDS4258.1	5	.	.	.	.	.	.	.	.	.	.	C	0.169	-1.073304	0.01918	.	.	ENSG00000120329	ENST00000239451	T	0.79141	-1.24	3.7	-7.4	0.01397	Mitochondrial carrier domain (2);	0.952792	0.08612	N	0.919890	T	0.53546	0.1803	N	0.25426	0.745	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.38802	-0.9644	10	0.21540	T	0.41	-3.7959	1.6257	0.02722	0.181:0.2147:0.0893:0.515	.	56	Q9BXI2	ORNT2_HUMAN	S	56	ENSP00000239451:A56S	ENSP00000239451:A56S	A	-	1	0	SLC25A2	140663451	0.990000	0.36364	0.005000	0.12908	0.023000	0.10783	0.991000	0.29654	-1.248000	0.02503	-0.475000	0.04921	GCC	SLC25A2	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000120329		0.572	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A2	HGNC	protein_coding	OTTHUMT00000251799.2	-	0	61	0	C	NM_031947		140683267	-1	tier1	-	no_errors	ENST00000239451	ensembl	human	known	74_37	missense	24.39	31	10	SNP	0.007	A	A	140683267	C	A	140683267	3	1	180	1	0	0	0	0	1	0	0	0	14527	768	27	2	743	2	SLC25A2	5	140683267	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	462215	140683267	40231993	78	44737											
PCDHGB2	56103	genome.wustl.edu	37	chr5	140741229	140741229	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctacgtgtccgtgagcgcGcagagcggggtggtgttcgc	4	9	17	11	6	0	2	0	1	0	1	3	2	2	2	2	3	3	2	2	3	1	2	rs377204571		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:140741229G>A	ENST00000522605.1	+	1	1527	c.1527G>A	c.(1525-1527)gcG>gcA	p.A509A	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_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	509	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)			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)			CCGTGAGCGCGCAGAGCGGGG	0.657																																																	0								G	,,,,,,	0,3974		0,0,1987	34	37	36		,,,,,1527,1527	-4.1	0	5		36	1,8309		0,1,4154	no	intron,intron,intron,intron,intron,coding-synonymous,coding-synonymous	PCDHGB2,PCDHGB1,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018922.2,NM_018923.2,NM_032096.1	,,,,,,	0,1,6141	AA,AG,GG		0.012,0.0,0.0081	,,,,,,	,,,,,509/932,509/812	140741229	1,12283	1987	4155	6142	SO:0001819	synonymous_variant	0			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.1527G>A	5.37:g.140741229G>A			Q3MIJ3|Q9UN65	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A509	ENST00000522605.1	37	c.1527	CCDS54924.1	5																																																																																			PCDHGB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253910		0.657	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1		0	66	0	G	NM_018923		140741229	1			no_errors	ENST00000522605	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.002	A	A	140741229	G	A	140741229	2	1	180	1	0	0	0	0	0	0	0	1	11602	1074	38	1		1	PCDHGB2	5	140741229	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	57962	140741229	40174031	79	44738											
PCDHGB3	56102	genome.wustl.edu	37	chr5	140752321	140752321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctatgtgatgaagcctcttGgtttgaaagtaatgacaatc	12	14	9	6	0	2	4	0	4	2	0	3	4	2	4	1	1	1	2	1	1	5	4	rs201408759		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:140752321G>T	ENST00000576222.1	+	1	2491	c.2360G>T	c.(2359-2361)tGg>tTg	p.W787L	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	787					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)			GAAGCCTCTTGGTTTGAAAGT	0.383																																																	0													53	49	51					5																	140752321		1851	4100	5951	SO:0001583	missense	0			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.2360G>T	5.37:g.140752321G>T	ENSP00000461862:p.Trp787Leu		A7E229|Q9Y5C7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.W787L	ENST00000576222.1	37	c.2360	CCDS58980.1	5																																																																																			PCDHGB3	-	NULL	ENSG00000262209		0.383	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1	-	0	43	0	G	NM_018924		140752321	1	tier1	-	no_errors	ENST00000576222	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.072	T	T	140752321	G	T	140752321	3	4	180	1	0	0	0	0	1	0	0	0	11603	1357	47	3	2362	3	PCDHGB3	5	140752321	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	11092	140752321	40162939	80	44739											
PCDHGB7	56099	genome.wustl.edu	37	chr5	140797618	140797618	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gtcctggatgtgtcggctcgCgagctgcgagtgagcgcgga	5	8	18	10	6	0	1	0	1	0	0	3	5	1	3	1	3	3	2	1	3	0	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:140797618C>T	ENST00000398594.2	+	1	192	c.192C>T	c.(190-192)cgC>cgT	p.R64R	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	64	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGGCTCGCGAGCTGCGAG	0.592											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													52	60	57					5																	140797618		1947	4145	6092	SO:0001819	synonymous_variant	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.192C>T	5.37:g.140797618C>T		1659	Q9UN63	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R64	ENST00000398594.2	37	c.192	CCDS47293.1	5																																																																																			PCDHGB7	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin	ENSG00000254122		0.592	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	-	0	67	0	C	NM_018927		140797618	1	tier1	-	no_errors	ENST00000398594	ensembl	human	known	74_37	silent	28.12	46	18	SNP	0.871	T	T	140797618	C	T	140797618	2	4	180	1	0	0	0	0	0	0	0	1	11607	755	27	1		1	PCDHGB7	5	140797618	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	45297	140797618	40117642	81	44740											
SH3RF2	153769	genome.wustl.edu	37	chr5	145442255	145442255	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgcagaccgtgtttccCagcaaatgaacctacgggtg	10	7	12	12	3	0	2	0	1	0	1	1	2	1	2	3	2	3	4	3	2	3	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:145442255C>A	ENST00000511217.1	+	9	2233	c.2181C>A	c.(2179-2181)ccC>ccA	p.P727P	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.P727P			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	727					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)			CCGTGTTTCCCAGCAAATGAA	0.557																																																	0													48	47	47					5																	145442255		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2181C>A	5.37:g.145442255C>A			A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.P727	ENST00000511217.1	37	c.2181	CCDS4280.1	5																																																																																			SH3RF2	-	NULL	ENSG00000156463		0.557	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	-	0	59	0	C	NM_152550		145442255	1	tier1	-	no_errors	ENST00000359120	ensembl	human	known	74_37	silent	6.90	54	4	SNP	1.000	A	A	145442255	C	A	145442255	2	1	180	1	0	0	0	0	0	0	0	1	14304	581	21	3		3	SH3RF2	5	145442255	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	4644637	145442255	35473005	82	44741											
CCDC69	26112	genome.wustl.edu	37	chr5	150563967	150563967	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcattttcctgttgcagggtCgtaattttttcctccaatat	7	19	6	9	1	1	0	1	0	0	0	5	0	4	0	3	1	1	3	3	1	3	8	rs369963539		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:150563967C>T	ENST00000355417.2	-	8	825	c.651G>A	c.(649-651)acG>acA	p.T217T	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	217										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCAGGGTCGTAATTTTTT	0.488																																																	0								C		2,4404	4.2+/-10.8	0,2,2201	136	126	130		651	-6.5	0.4	5		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCDC69	NM_015621.2		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		217/297	150563967	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.651G>A	5.37:g.150563967C>T			A8K9X6	Silent	SNP	superfamily_ER_p29_C	p.T217	ENST00000355417.2	37	c.651	CCDS4312.1	5																																																																																			CCDC69	-	NULL	ENSG00000198624		0.488	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC69	HGNC	protein_coding	OTTHUMT00000252435.1	-	0	61	0	C	NM_015621		150563967	-1	tier1	-	no_errors	ENST00000355417	ensembl	human	known	74_37	silent	14.75	52	9	SNP	0.420	T	T	150563967	C	T	150563967	2	4	180	1	0	0	0	0	0	0	0	1	2848	871	31	1		1	CCDC69	5	150563967	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	5121712	150563967	30351293	83	44742											
FAT2	2196	genome.wustl.edu	37	chr5	150923012	150923012	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ctcttcctcctccatcccgaGccatgaccttaatagcaatg	9	11	5	16	1	1	1	0	1	1	0	5	2	5	1	6	0	2	1	6	0	3	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:150923012G>A	ENST00000261800.5	-	9	7688	c.7676C>T	c.(7675-7677)gCt>gTt	p.A2559V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2559	Cadherin 22. {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)			TCCATCCCGAGCCATGACCTT	0.473																																																	0													145	149	148					5																	150923012		2203	4300	6503	SO:0001583	missense	0			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.7676C>T	5.37:g.150923012G>A	ENSP00000261800:p.Ala2559Val		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A2559V	ENST00000261800.5	37	c.7676	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915229	0.73098	.	.	ENSG00000086570	ENST00000261800	T	0.66099	-0.19	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000007	T	0.82162	0.4977	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83473	0.0060	10	0.42905	T	0.14	.	18.6386	0.91386	0.0:0.0:1.0:0.0	.	2559	Q9NYQ8	FAT2_HUMAN	V	2559	ENSP00000261800:A2559V	ENSP00000261800:A2559V	A	-	2	0	FAT2	150903205	1.000000	0.71417	0.995000	0.50966	0.819000	0.46315	9.787000	0.99055	2.395000	0.81488	0.462000	0.41574	GCT	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	66	0	G	NM_001447		150923012	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	A	A	150923012	G	A	150923012	3	1	180	1	0	0	0	0	1	0	0	0	5712	971	34	3	5433	3	FAT2	5	150923012	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	359045	150923012	29992248	84	44743											
CYFIP2	26999	genome.wustl.edu	37	chr5	156714067	156714067	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ttgaggacaggaatgcatttGtcacgggcattgcaaggtac	11	10	13	7	1	1	1	1	1	0	0	1	3	1	3	0	4	3	4	0	4	3	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:156714067G>A	ENST00000521420.1	+	3	248	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	CYFIP2_ENST00000377576.3_Missense_Mutation_p.V53I|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.V53I|CYFIP2_ENST00000347377.6_Missense_Mutation_p.V53I|CYFIP2_ENST00000318218.6_Missense_Mutation_p.V53I|CYFIP2_ENST00000541131.1_Intron					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)			GAATGCATTTGTCACGGGCAT	0.493																																																	0													87	86	87					5																	156714067		2058	4214	6272	SO:0001583	missense	0			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.157G>A	5.37:g.156714067G>A	ENSP00000430904:p.Val53Ile			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.V53I	ENST00000521420.1	37	c.157		5	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866408	0.91511	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576	T;T;T;T;T	0.42131	0.98;2.09;2.12;0.98;0.98	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	L	0.51914	1.62	0.80722	D	1	B;B;B;B;P	0.35745	0.267;0.166;0.172;0.296;0.518	B;B;B;B;B	0.41374	0.355;0.017;0.015;0.101;0.355	T	0.31806	-0.9930	10	0.34782	T	0.22	-39.7201	19.4094	0.94662	0.0:0.0:1.0:0.0	.	53;53;53;53;53	E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;CYFP2_HUMAN	I	53	ENSP00000325817:V53I;ENSP00000428009:V53I;ENSP00000430904:V53I;ENSP00000313567:V53I;ENSP00000366799:V53I	ENSP00000325817:V53I	V	+	1	0	CYFIP2	156646645	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.382000	0.97209	2.583000	0.87209	0.561000	0.74099	GTC	CYFIP2	-	pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	ENSG00000055163		0.493	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1		0	50	0	G	NM_001037332		156714067	1			no_errors	ENST00000318218	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A	A	156714067	G	A	156714067	3	1	180	1	0	0	0	0	1	0	0	0	4147	1377	48	3	163	3	CYFIP2	5	156714067	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	5791055	156714067	24201193	85	44744											
LSM11	134353	genome.wustl.edu	37	chr5	157178533	157178533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcattcgacaagttctggaAtatggtaattaagcctttct	11	15	8	7	1	2	0	0	0	2	0	3	2	2	1	1	2	2	3	1	2	5	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:157178533A>G	ENST00000286307.5	+	2	640	c.584A>G	c.(583-585)aAt>aGt	p.N195S		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	195	SM 1.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGTTCTGGAATATGGTAATT	0.438																																																	0													120	123	122					5																	157178533		2203	4300	6503	SO:0001583	missense	0			AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.584A>G	5.37:g.157178533A>G	ENSP00000286307:p.Asn195Ser		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.N195S	ENST00000286307.5	37	c.584	CCDS4342.1	5	.	.	.	.	.	.	.	.	.	.	A	29.7	5.031106	0.93575	.	.	ENSG00000155858	ENST00000286307	T	0.77750	-1.12	6.17	6.17	0.99709	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.000000	0.85682	D	0.000000	D	0.89818	0.6825	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91268	0.5042	10	0.87932	D	0	-16.5897	16.8222	0.85835	1.0:0.0:0.0:0.0	.	195	P83369	LSM11_HUMAN	S	195	ENSP00000286307:N195S	ENSP00000286307:N195S	N	+	2	0	LSM11	157111111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.300000	0.96151	2.371000	0.80710	0.533000	0.62120	AAT	LSM11	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000155858		0.438	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM11	HGNC	protein_coding	OTTHUMT00000252580.2	-	0	76	0	A	NM_173491		157178533	1	tier1	-	no_errors	ENST00000286307	ensembl	human	known	74_37	missense	21.21	52	14	SNP	1.000	G	G	157178533	A	G	157178533	3	3	180	1	0	0	0	0	1	0	0	0	9087	101	4	4	590	4	LSM11	5	157178533	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	464466	157178533	23736727	86	44745											
FAM153B	202134	genome.wustl.edu	37	chr5	175530248	175530248	+	Frame_Shift_Del	DEL	T	T	-																															agttctgatcagggatgtacTtcaggagctgtccagttaca																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:175530248delT	ENST00000253490.4	+	13	740	c.683delT	c.(682-684)cttfs	p.L228fs	FAM153B_ENST00000515817.1_Frame_Shift_Del_p.L151fs|FAM153B_ENST00000510151.1_Frame_Shift_Del_p.L151fs|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	228										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)		AGGGATGTACTTCAGGAGCTG	0.493																																																	0													221	231	227					5																	175530248		2203	4300	6503	SO:0001589	frameshift_variant	0			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.683delT	5.37:g.175530248delT	ENSP00000253490:p.Leu228fs		A8MTI1	Frame_Shift_Del	DEL	prints_FAM153	p.Q229fs	ENST00000253490.4	37	c.683		5																																																																																			FAM153B	-	NULL	ENSG00000182230		0.493	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding			0	427	0	T	NM_001079529		175530248	1	tier1		no_errors	ENST00000253490	ensembl	human	known	74_37	frame_shift_del	27.56	226	86	DEL	0.000	-	-	175530248	T	-	175530248	7	5	180	1	0	1	0	1	0	0	0	0	5480	1609	56	0	733	0	FAM153B	5	175530248	Frame_Shift_Del	DEL	T	TCGA-XP-A8T8-01A-11D-A36J-09	18351715	175530248	5385012	87	44746											
DBN1	1627	genome.wustl.edu	37	chr5	176887455	176887455	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgatggttgaagggcgaGggtacatcacagctgcccgc	8	7	16	10	3	1	1	1	1	0	0	2	3	1	1	1	4	3	3	1	4	2	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:176887455G>T	ENST00000309007.5	-	10	1152	c.933C>A	c.(931-933)ccC>ccA	p.P311P	DBN1_ENST00000393565.1_Silent_p.P311P|DBN1_ENST00000292385.5_Silent_p.P313P|DBN1_ENST00000393563.4_Silent_p.P43P|DBN1_ENST00000512501.1_Silent_p.P43P	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	311					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGGGCGAGGGTACATCAC	0.622																																																	0													140	135	136					5																	176887455		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.933C>A	5.37:g.176887455G>T			A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.P313	ENST00000309007.5	37	c.939	CCDS4420.1	5																																																																																			DBN1	-	NULL	ENSG00000113758		0.622	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	HGNC	protein_coding	OTTHUMT00000253429.2	-	0	66	0	G	NM_080881		176887455	-1	tier1	-	no_errors	ENST00000292385	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.994	T	T	176887455	G	T	176887455	2	4	180	1	0	0	0	0	0	0	0	1	4261	987	35	3		3	DBN1	5	176887455	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	1357207	176887455	4027805	88	44747											
DDX41	51428	genome.wustl.edu	37	chr5	176943362	176943362	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggcctagcgggatgtcGtcctcatctccccggggttc	4	10	14	13	3	2	1	1	1	1	0	6	2	3	2	4	4	1	1	4	4	1	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr5:176943362G>A	ENST00000507955.1	-	3	748	c.225C>T	c.(223-225)gaC>gaT	p.D75D	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	75					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)			GCGGGATGTCGTCCTCATCTC	0.627																																																	0													126	118	121					5																	176943362		2203	4300	6503	SO:0001819	synonymous_variant	0			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.225C>T	5.37:g.176943362G>A			B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D75	ENST00000507955.1	37	c.225	CCDS4427.1	5																																																																																			DDX41	-	NULL	ENSG00000183258		0.627	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2		0	42	0	G	NM_016222		176943362	-1			no_errors	ENST00000507955	ensembl	human	known	74_37	silent	8.11	34	3	SNP	1.000	A	A	176943362	G	A	176943362	2	1	180	1	0	0	0	0	0	0	0	1	4370	1136	40	1		1	DDX41	5	176943362	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	55907	176943362	3971898	89	44748											
WRNIP1	56897	genome.wustl.edu	37	chr6	2783659	2783659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaggagcattacaactgCatctccgccctgcacaagtc	10	8	10	13	1	1	1	0	1	1	0	3	2	1	2	2	2	5	3	2	2	3	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr6:2783659C>T	ENST00000380773.4	+	5	1715	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	WRNIP1_ENST00000380764.1_Silent_p.C118C|WRNIP1_ENST00000380771.4_Silent_p.C477C|WRNIP1_ENST00000380769.4_Silent_p.C282C	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				ATTACAACTGCATCTCCGCCC	0.607																																																	0													70	58	62					6																	2783659		2203	4300	6503	SO:0001819	synonymous_variant	0			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1506C>T	6.37:g.2783659C>T				Silent	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.C502	ENST00000380773.4	37	c.1506	CCDS4475.1	6																																																																																			WRNIP1	-	NULL	ENSG00000124535		0.607	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	-	0	57	0	C	NM_130395		2783659	1	tier1	-	no_errors	ENST00000380773	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.997	T	T	2783659	C	T	2783659	2	4	180	1	0	0	0	0	0	0	0	1	17452	718	25	3		3	WRNIP1	6	2783659	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09		2783659	168331408	90	44749											
JARID2	3720	genome.wustl.edu	37	chr6	15497080	15497080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccgcaggactcgggcaagGccgagaagggcggcggcaag	10	1	19	11	5	0	1	0	0	0	1	1	3	0	2	2	6	1	3	2	6	3	0	rs143082189	byFrequency	TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr6:15497080G>T	ENST00000341776.2	+	7	1868	c.1624G>T	c.(1624-1626)Gcc>Tcc	p.A542S	JARID2_ENST00000397311.3_Missense_Mutation_p.A370S|JARID2_ENST00000541660.1_Missense_Mutation_p.A504S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	542					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)				CTCGGGCAAGGCCGAGAAGGG	0.652																																																	0													24	27	26					6																	15497080		2202	4298	6500	SO:0001583	missense	0			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.1624G>T	6.37:g.15497080G>T	ENSP00000341280:p.Ala542Ser		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.A542S	ENST00000341776.2	37	c.1624	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	7.749	0.702985	0.15172	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.88431	-1.75;-1.75;-2.38	5.29	2.36	0.29203	.	1.029180	0.07636	N	0.929459	T	0.60495	0.2273	N	0.12182	0.205	0.26219	N	0.979185	B;B;B	0.23249	0.082;0.005;0.02	B;B;B	0.21708	0.036;0.006;0.01	T	0.50600	-0.8809	10	0.09084	T	0.74	-1.3096	11.1643	0.48533	0.1227:0.4192:0.4581:0.0	.	504;406;542	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	S	406;542;370;504	ENSP00000341280:A542S;ENSP00000380478:A370S;ENSP00000444623:A504S	ENSP00000341280:A542S	A	+	1	0	JARID2	15605059	0.982000	0.34865	0.998000	0.56505	0.725000	0.41563	1.853000	0.39358	0.605000	0.29947	0.561000	0.74099	GCC	JARID2	-	NULL	ENSG00000008083		0.652	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	-	0	78	0	G	NM_004973		15497080	1	tier1	-	no_errors	ENST00000341776	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.993	T	T	15497080	G	T	15497080	3	4	180	1	0	0	0	0	1	0	0	0	7972	1203	42	3	1650	3	JARID2	6	15497080	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	12713421	15497080	155617987	91	44750											
OR5V1	81696	genome.wustl.edu	37	chr6	29323224	29323224	+	Missense_Mutation	SNP	A	A	T	1	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	agatggcgctgccataaaagAgaaagacaatggccaggtgg	15	5	14	7	1	0	3	0	0	0	3	0	4	0	3	2	4	1	1	2	4	4	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr6:29323224A>T	ENST00000377154.1	-	4	1048	c.749T>A	c.(748-750)cTc>cAc	p.L250H	OR5V1_ENST00000543825.1_Missense_Mutation_p.L250H			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, 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)			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						GCCATAAAAGAGAAAGACAAT	0.453																																					Ovarian(32;43 883 21137 32120 42650)												0													87	81	83					6																	29323224		2203	4300	6503	SO:0001583	missense	0				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.749T>A	6.37:g.29323224A>T	ENSP00000366359:p.Leu250His		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L250H	ENST00000377154.1	37	c.749	CCDS4657.1	6	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559647	0.45590	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00302	8.2;8.2	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00695	0.0023	H	0.98048	4.135	0.09310	N	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.27365	-1.0076	9	0.87932	D	0	-25.3512	14.5239	0.67873	1.0:0.0:0.0:0.0	.	250	Q9UGF6	OR5V1_HUMAN	H	250	ENSP00000366359:L250H;ENSP00000443309:L250H	ENSP00000366356:L250H	L	-	2	0	OR5V1	29431203	0.675000	0.27558	0.019000	0.16419	0.322000	0.28314	6.272000	0.72575	2.101000	0.63845	0.443000	0.29094	CTC	OR5V1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000243729		0.453	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5V1	HGNC	protein_coding	OTTHUMT00000076398.3		0	40	0	A			29323224	-1			no_errors	ENST00000377154	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.132	T	T	29323224	A	T	29323224	3	4	180	1	0	0	0	0	1	0	0	0	11223	304	11	5	219	5	OR5V1	6	29323224	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	13826144	29323224	141791843	92	44751											
RUNX2	860	genome.wustl.edu	37	chr6	45390503	45390505	+	In_Frame_Del	DEL	GCG	GCG	-																															aggaggcggcggcggcggctGcggcggcggcggcggctgcg																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr6:45390503_45390505delGCG	ENST00000371438.1	+	2	590_592	c.232_234delGCG	c.(232-234)gcgdel	p.A89del	RUNX2_ENST00000359524.5_In_Frame_Del_p.A75del|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_In_Frame_Del_p.A89del|RUNX2_ENST00000541979.1_In_Frame_Del_p.A157del|RUNX2_ENST00000576263.1_In_Frame_Del_p.A89del|RUNX2_ENST00000352853.5_In_Frame_Del_p.A157del|RUNX2_ENST00000371432.3_In_Frame_Del_p.A75del|RUNX2_ENST00000465038.2_In_Frame_Del_p.A89del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	89	Poly-Ala.				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						ggcggcggctgcggcggcggcgg	0.734																																																	0																																										SO:0001651	inframe_deletion	0			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.232_234delGCG	6.37:g.45390512_45390514delGCG	ENSP00000360493:p.Ala89del		O14614|O14615|O95181	In_Frame_Del	DEL	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	p.A149in_frame_del	ENST00000371438.1	37	c.436_438	CCDS43467.2	6																																																																																			RUNX2	-	NULL	ENSG00000124813		0.734	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2		0	42	0	GCG	NM_004348		45390505	1	tier1		no_errors	ENST00000352853	ensembl	human	known	74_37	in_frame_del	10.00	27	3	DEL	0.990:1.000:1.000	-	-	45390505	GCG	-	45390503	7	5	180	1	0	1	0	1	0	0	0	0	13793	1319	46	0	254	0	RUNX2	6	45390503	In_Frame_Del	DEL	GCG	TCGA-XP-A8T8-01A-11D-A36J-09	16067279	45390503	125724564	93	44752											
COL12A1	1303	genome.wustl.edu	37	chr6	75840585	75840585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcgttcggccctgggcaGggctgggatttccctctcca	4	9	13	15	3	1	0	0	0	1	0	4	1	2	1	3	4	0	3	3	4	0	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr6:75840585G>C	ENST00000322507.8	-	36	6359	c.6050C>G	c.(6049-6051)cCt>cGt	p.P2017R	COL12A1_ENST00000416123.2_Missense_Mutation_p.P2017R|COL12A1_ENST00000345356.6_Missense_Mutation_p.P853R|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2017R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2017	Fibronectin type-III 15. {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						GCCCTGGGCAGGGCTGGGATT	0.562																																																	0													77	79	78					6																	75840585		2021	4182	6203	SO:0001583	missense	0			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.6050C>G	6.37:g.75840585G>C	ENSP00000325146:p.Pro2017Arg		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P2017R	ENST00000322507.8	37	c.6050	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563117	0.27915	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.6	4.74	0.60224	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.306737	0.31834	N	0.007000	T	0.23330	0.0564	L	0.47716	1.5	0.32623	N	0.523018	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.003	T	0.09930	-1.0652	10	0.16420	T	0.52	.	10.3471	0.43911	0.0718:0.0:0.7863:0.1419	.	853;2017	Q99715-2;Q99715	.;COCA1_HUMAN	R	2017;2017;853;2017;2017	ENSP00000325146:P2017R;ENSP00000305147:P853R;ENSP00000412864:P2017R;ENSP00000421216:P2017R	ENSP00000325146:P2017R	P	-	2	0	COL12A1	75897305	0.999000	0.42202	0.873000	0.34254	0.906000	0.53458	3.261000	0.51530	1.368000	0.46115	0.655000	0.94253	CCT	COL12A1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.562	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	93	0	G	NM_004370		75840585	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	39.47	23	15	SNP	0.886	C	C	75840585	G	C	75840585	3	2	180	1	0	0	0	0	1	0	0	0	3676	1000	35	5	3265	5	COL12A1	6	75840585	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	30450082	75840585	95274482	94	44753											
MCHR2	84539	genome.wustl.edu	37	chr6	100391010	100391010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtcgaaatggttggacgagGgcaaagtacctgcaaaggca	14	6	14	7	2	0	0	0	0	0	0	1	3	0	1	1	4	2	5	1	4	4	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr6:100391010G>A	ENST00000281806.2	-	4	716	c.402C>T	c.(400-402)gcC>gcT	p.A134A	MCHR2_ENST00000369212.2_Silent_p.A134A	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTTGGACGAGGGCAAAGTACC	0.463																																																	0													95	88	91					6																	100391010		2203	4300	6503	SO:0001819	synonymous_variant	0			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.402C>T	6.37:g.100391010G>A			B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.A134	ENST00000281806.2	37	c.402	CCDS5044.1	6																																																																																			MCHR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000152034		0.463	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	-	0	57	0	G	NM_032503		100391010	-1	tier1	-	no_errors	ENST00000281806	ensembl	human	known	74_37	silent	23.81	32	10	SNP	1.000	A	A	100391010	G	A	100391010	2	1	180	1	0	0	0	0	0	0	0	1	9421	1219	43	3		3	MCHR2	6	100391010	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	24550425	100391010	70724057	95	44754											
HDDC2	51020	genome.wustl.edu	37	chr6	125614053	125614053	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggttatctgcttcatagcTtcctgaaatattaaaccatt	11	16	6	8	0	2	1	1	1	1	0	3	1	3	1	2	1	3	3	2	1	6	7			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr6:125614053T>A	ENST00000398153.2	-	4	354	c.312A>T	c.(310-312)gaA>gaT	p.E104D	HDDC2_ENST00000608295.1_Intron|HDDC2_ENST00000368377.4_Missense_Mutation_p.E70D	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	104	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)		GCTTCATAGCTTCCTGAAATA	0.348																																																	0													119	116	117					6																	125614053		1823	4084	5907	SO:0001583	missense	0			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.312A>T	6.37:g.125614053T>A	ENSP00000381220:p.Glu104Asp		Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Missense_Mutation	SNP	pfam_HD_domain,smart_HD/PDEase_dom	p.E104D	ENST00000398153.2	37	c.312	CCDS43503.1	6	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420070	0.42918	.	.	ENSG00000111906	ENST00000318787;ENST00000398153;ENST00000368377	T;T;T	0.48201	0.82;0.82;0.82	5.52	1.87	0.25490	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.197760	0.52532	D	0.000064	T	0.09949	0.0244	N	0.17723	0.515	0.41214	D	0.98646	B	0.14012	0.009	B	0.17979	0.02	T	0.14504	-1.0470	10	0.12430	T	0.62	.	4.0728	0.09891	0.1427:0.2433:0.0:0.614	.	104	Q7Z4H3	HDDC2_HUMAN	D	70;104;70	ENSP00000316242:E70D;ENSP00000381220:E104D;ENSP00000357361:E70D	ENSP00000316242:E70D	E	-	3	2	HDDC2	125655752	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	0.574000	0.23714	0.149000	0.19098	0.533000	0.62120	GAA	HDDC2	-	pfam_HD_domain,smart_HD/PDEase_dom	ENSG00000111906		0.348	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HDDC2	HGNC	protein_coding	OTTHUMT00000472493.1	-	0	73	0	T	NM_016063		125614053	-1	tier1	-	no_errors	ENST00000398153	ensembl	human	known	74_37	missense	56.82	19	25	SNP	1.000	A	A	125614053	T	A	125614053	3	1	180	1	0	0	0	0	1	0	0	0	7043	1606	56	5	314	5	HDDC2	6	125614053	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	25223043	125614053	45501014	96	44755											
SGK1	6446	genome.wustl.edu	37	chr6	134491990	134491990	+	Missense_Mutation	SNP	T	T	C	0	1	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	tgggttaaaagggggagtaaTcttcttattaatgagatcat	13	14	11	3	0	3	1	1	1	2	1	3	3	3	2	0	3	0	2	0	3	5	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr6:134491990T>C	ENST00000237305.7	-	11	1190	c.1102A>G	c.(1102-1104)Att>Gtt	p.I368V	SGK1_ENST00000528577.1_Missense_Mutation_p.I396V|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000367858.5_Missense_Mutation_p.I463V|SGK1_ENST00000367857.5_Missense_Mutation_p.I358V|SGK1_ENST00000413996.3_Missense_Mutation_p.I382V|SGK1_ENST00000475719.2_Missense_Mutation_p.I324V	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	368	AGC-kinase C-terminal.				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)		GGGGGAGTAATCTTCTTATTA	0.368																																																	0													115	127	123					6																	134491990		2203	4300	6503	SO:0001583	missense	0			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.1102A>G	6.37:g.134491990T>C	ENSP00000237305:p.Ile368Val		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.I463V	ENST00000237305.7	37	c.1387	CCDS5170.1	6	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758287	0.49468	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	6.02	6.02	0.97574	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.044896	0.85682	D	0.000000	T	0.29126	0.0724	L	0.41027	1.25	0.80722	D	1	B;B;B;B;B;B	0.29646	0.07;0.005;0.253;0.02;0.036;0.024	B;B;B;B;B;B	0.36092	0.089;0.031;0.217;0.056;0.071;0.025	T	0.15780	-1.0425	10	0.52906	T	0.07	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	396;382;324;358;463;368	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	V	463;382;368;358;396;324	ENSP00000356832:I463V;ENSP00000396242:I382V;ENSP00000237305:I368V;ENSP00000356831:I358V;ENSP00000434450:I396V;ENSP00000434302:I324V	ENSP00000237305:I368V	I	-	1	0	SGK1	134533683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.305000	0.51873	2.311000	0.77944	0.533000	0.62120	ATT	SGK1	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C	ENSG00000118515		0.368	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK1	HGNC	protein_coding	OTTHUMT00000042312.2	-	0	53	0	T			134491990	-1	tier1	-	no_errors	ENST00000367858	ensembl	human	known	74_37	missense	31.67	41	19	SNP	1.000	C	C	134491990	T	C	134491990	3	2	180	1	0	0	0	0	1	0	0	0	14252	1435	50	4	201	4	SGK1	6	134491990	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	8877937	134491990	36623077	97	44756											
HIVEP2	3097	genome.wustl.edu	37	chr6	143074876	143074876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctggcggcatggagtgaaCcatctggatcccaccaacgg	9	6	14	12	2	1	1	0	1	1	0	2	3	2	3	3	6	2	2	3	6	2	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr6:143074876C>T	ENST00000367604.1	-	9	7348	c.6709G>A	c.(6709-6711)Gtt>Att	p.V2237I	HIVEP2_ENST00000012134.2_Missense_Mutation_p.V2237I|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Missense_Mutation_p.V2237I			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2237					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)		ATGGAGTGAACCATCTGGATC	0.557																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													100	107	105					6																	143074876		1981	4144	6125	SO:0001583	missense	0			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.6709G>A	6.37:g.143074876C>T	ENSP00000356576:p.Val2237Ile		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V2237I	ENST00000367604.1	37	c.6709	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926209	0.52759	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.04970	3.52;3.52;3.52	5.63	5.63	0.86233	.	0.104145	0.64402	D	0.000003	T	0.02807	0.0084	L	0.45228	1.405	0.49213	D	0.999768	P	0.38535	0.635	B	0.29862	0.108	T	0.44390	-0.9331	10	0.49607	T	0.09	-9.877	12.9656	0.58481	0.0:0.9261:0.0:0.0739	.	2237	P31629	ZEP2_HUMAN	I	2237	ENSP00000356576:V2237I;ENSP00000356575:V2237I;ENSP00000012134:V2237I	ENSP00000012134:V2237I	V	-	1	0	HIVEP2	143116569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.320000	0.59203	2.668000	0.90789	0.655000	0.94253	GTT	HIVEP2	-	NULL	ENSG00000010818		0.557	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	-	0	117	0	C			143074876	-1	tier1	-	no_errors	ENST00000012134	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	T	T	143074876	C	T	143074876	3	4	180	1	0	0	0	0	1	0	0	0	7214	507	18	3	635	3	HIVEP2	6	143074876	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	8582886	143074876	28040191	98	44757											
UTRN	7402	genome.wustl.edu	37	chr6	144800995	144800995	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtcaagaaaaagctgcGaacctgaagaaagacttggc	18	5	11	7	1	1	4	1	1	0	3	1	6	1	4	1	1	3	1	1	1	7	1	rs112708396		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr6:144800995G>T	ENST00000367545.3	+	25	3384	c.3384G>T	c.(3382-3384)gcG>gcT	p.A1128A		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1128					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)		AAAAAGCTGCGAACCTGAAGA	0.423																																																	0													96	98	97					6																	144800995		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3384G>T	6.37:g.144800995G>T			Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.A1128	ENST00000367545.3	37	c.3384	CCDS34547.1	6																																																																																			UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.423	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	-	0	90	0	G			144800995	1	tier1	-	no_errors	ENST00000367545	ensembl	human	known	74_37	silent	32.26	42	20	SNP	0.591	T	T	144800995	G	T	144800995	2	4	180	1	0	0	0	0	0	0	0	1	17152	1045	37	2		2	UTRN	6	144800995	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	1726119	144800995	26314072	99	44758											
IGF2R	3482	genome.wustl.edu	37	chr6	160430068	160430068	+	Nonsense_Mutation	SNP	A	A	T	1	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	ctgttttgagaagtgcaaccAgatctctcctggaattcaac	11	12	8	10	0	2	2	1	1	1	2	4	4	3	3	2	1	3	2	2	1	4	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr6:160430068A>T	ENST00000356956.1	+	3	464	c.316A>T	c.(316-318)Aga>Tga	p.R106*	AIRN_ENST00000601203.1_RNA|AIRN_ENST00000609176.1_RNA	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	106					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)	AAGTGCAACCAGATCTCTCCT	0.443																																																	0													119	114	116					6																	160430068		2203	4300	6503	SO:0001587	stop_gained	0			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.316A>T	6.37:g.160430068A>T	ENSP00000349437:p.Arg106*		Q7Z7G9|Q96PT5	Nonsense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.R106*	ENST00000356956.1	37	c.316	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132056	0.77662	.	.	ENSG00000197081	ENST00000356956	.	.	.	5.49	4.31	0.51392	.	0.477242	0.27027	N	0.021289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-16.8478	11.9194	0.52783	0.8539:0.1461:0.0:0.0	.	.	.	.	X	106	.	ENSP00000349437:R106X	R	+	1	2	IGF2R	160350058	0.981000	0.34729	0.088000	0.20740	0.100000	0.18952	2.205000	0.42770	0.982000	0.38575	0.533000	0.62120	AGA	IGF2R	-	superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.443	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0	56	0	A	NM_000876		160430068	1	tier1	-	no_errors	ENST00000356956	ensembl	human	known	74_37	nonsense	13.33	26	4	SNP	0.000	T	T	160430068	A	T	160430068	4	4	180	1	0	0	0	0	0	1	0	0	7603	180	7	5	326	5	IGF2R	6	160430068	Nonsense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	15629073	160430068	10684999	100	44759											
CCDC129	223075	genome.wustl.edu	37	chr7	31682502	31682502	+	Missense_Mutation	SNP	T	T	A	0	1	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	tctgtgatggaggaagagttTctgcttgaggccatggaggg	8	11	17	5	0	2	3	0	2	2	1	2	6	2	6	1	5	1	2	1	5	1	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr7:31682502T>A	ENST00000407970.3	+	11	1556	c.1518T>A	c.(1516-1518)ttT>ttA	p.F506L	CCDC129_ENST00000409210.1_Missense_Mutation_p.F414L|CCDC129_ENST00000451887.2_Missense_Mutation_p.F532L|CCDC129_ENST00000319386.3_Missense_Mutation_p.F358L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	506										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGGAAGAGTTTCTGCTTGAGG	0.532																																																	0													109	109	109					7																	31682502		2203	4300	6503	SO:0001583	missense	0			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.1518T>A	7.37:g.31682502T>A	ENSP00000384416:p.Phe506Leu		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	NULL	p.F532L	ENST00000407970.3	37	c.1596	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	T	1.480	-0.557366	0.03967	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.15487	2.42;2.68;2.68;2.42	5.85	4.71	0.59529	.	1.004860	0.08008	N	0.989955	T	0.09905	0.0243	N	0.11427	0.14	0.22127	N	0.999347	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.38866	-0.9641	10	0.17369	T	0.5	0.6017	8.554	0.33469	0.0:0.0869:0.0:0.9131	.	532;516;506;358	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	L	358;506;532;516;414	ENSP00000313062:F358L;ENSP00000384416:F506L;ENSP00000395835:F532L;ENSP00000387214:F414L	ENSP00000313062:F358L	F	+	3	2	CCDC129	31649027	0.738000	0.28186	0.634000	0.29324	0.008000	0.06430	3.611000	0.54132	1.053000	0.40415	0.477000	0.44152	TTT	CCDC129	-	NULL	ENSG00000180347		0.532	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	-	0	26	0	T	NM_194300		31682502	1	tier1	-	no_errors	ENST00000451887	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.645	A	A	31682502	T	A	31682502	3	1	180	1	0	0	0	0	1	0	0	0	2771	1780	62	5	1556	5	CCDC129	7	31682502	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09		31682502	127456161	101	44760											
AEBP1	165	genome.wustl.edu	37	chr7	44152463	44152463	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcccaggactacaccggcGgcatgggcatcgtcaacggg	10	4	14	13	4	1	0	1	0	0	0	2	1	1	1	2	5	3	2	2	5	3	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr7:44152463G>C	ENST00000223357.3	+	18	2829	c.2524G>C	c.(2524-2526)Ggc>Cgc	p.G842R	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.G417R	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	842	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CTACACCGGCGGCATGGGCAT	0.692																																																	0													50	58	55					7																	44152463		2203	4300	6503	SO:0001583	missense	0			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.2524G>C	7.37:g.44152463G>C	ENSP00000223357:p.Gly842Arg		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.G842R	ENST00000223357.3	37	c.2524	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491542	0.84962	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.09911	2.93;2.93	5.41	4.53	0.55603	Peptidase M14, carboxypeptidase A (2);	0.110135	0.64402	D	0.000009	T	0.17704	0.0425	N	0.16307	0.4	0.48901	D	0.999728	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.975	T	0.07328	-1.0778	10	0.39692	T	0.17	-35.1535	13.8614	0.63561	0.0747:0.0:0.9253:0.0	.	417;842	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	R	842;417	ENSP00000223357:G842R;ENSP00000398878:G417R	ENSP00000223357:G842R	G	+	1	0	AEBP1	44118988	1.000000	0.71417	0.884000	0.34674	0.998000	0.95712	5.549000	0.67261	1.420000	0.47138	0.591000	0.81541	GGC	AEBP1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000106624		0.692	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	-	0	130	0	G	NM_001129		44152463	1	tier1	-	no_errors	ENST00000223357	ensembl	human	known	74_37	missense	9.57	85	9	SNP	0.996	C	C	44152463	G	C	44152463	3	2	180	1	0	0	0	0	1	0	0	0	349	1116	39	5	2594	5	AEBP1	7	44152463	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	12469961	44152463	114986200	102	44761											
ZMIZ2	83637	genome.wustl.edu	37	chr7	44795881	44795881	+	Silent	SNP	G	G	C	0	0	1	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	aaccccatgaaacctgccctGccccctgcgccacacgggtg	8	5	9	19	2	0	1	0	1	0	0	0	1	0	1	7	1	5	0	7	1	2	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr7:44795881G>C	ENST00000309315.4	+	2	156	c.33G>C	c.(31-33)ctG>ctC	p.L11L	ZMIZ2_ENST00000433667.1_Silent_p.L11L|ZMIZ2_ENST00000441627.1_Silent_p.L11L|ZMIZ2_ENST00000413916.1_Silent_p.L11L|ZMIZ2_ENST00000265346.7_Silent_p.L11L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	11					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						AACCTGCCCTGCCCCCTGCGC	0.602																																					NSCLC(20;604 852 1948 16908 50522)												0													60	65	64					7																	44795881		1920	4120	6040	SO:0001819	synonymous_variant	0			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.33G>C	7.37:g.44795881G>C			A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.L11	ENST00000309315.4	37	c.33	CCDS43576.1	7																																																																																			ZMIZ2	-	NULL	ENSG00000122515		0.602	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ2	HGNC	protein_coding	OTTHUMT00000341790.1		0	49	0	G	NM_031449		44795881	1			no_errors	ENST00000309315	ensembl	human	known	74_37	silent	8.89	40	4	SNP	1.000	C	C	44795881	G	C	44795881	2	2	180	1	0	0	0	0	0	0	0	1	17745	1306	46	5		5	ZMIZ2	7	44795881	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	643418	44795881	114342782	103	44762											
CCDC132	55610	genome.wustl.edu	37	chr7	92932771	92932771	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcattttctttttttaaGaacacggctcgatgaactga	10	17	7	7	2	2	3	1	2	1	1	3	4	2	3	0	1	2	2	0	1	3	7			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr7:92932771G>T	ENST00000305866.5	+	17	1489		c.e17-1		CCDC132_ENST00000535481.1_Splice_Site|CCDC132_ENST00000317751.6_Splice_Site|CCDC132_ENST00000544910.1_Splice_Site|CCDC132_ENST00000541136.1_Splice_Site	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132							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)			CTTTTTTTAAGAACACGGCTC	0.333																																																	0													87	83	84					7																	92932771		1816	4074	5890	SO:0001630	splice_region_variant	0			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.1362-1G>T	7.37:g.92932771G>T			B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Splice_Site	SNP	-	e17-1	ENST00000305866.5	37	c.1362-1	CCDS43617.1	7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363588	0.82353	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751;ENST00000458707	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7132	0.91666	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC132	92770707	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.563000	0.98148	2.724000	0.93272	0.563000	0.77884	.	CCDC132	-	-	ENSG00000004766		0.333	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1		0	34	0	G	NM_017667	Intron	92932771	1			no_errors	ENST00000305866	ensembl	human	known	74_37	splice_site	9.09	20	2	SNP	1.000	T	T	92932771	G	T	92932771	5	4	180	1	0	0	0	0	0	0	1	0	2774	956	33	3	1469	3	CCDC132	7	92932771	Splice_Site	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	48136890	92932771	66205892	104	44763											
BET1	10282	genome.wustl.edu	37	chr7	93628493	93628493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatacttacagattttatagCagttactttgcttctcagac	11	17	5	8	0	1	2	1	0	1	2	2	2	1	2	0	0	5	3	0	0	6	9			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr7:93628493C>T	ENST00000222547.3	-	2	291	c.133G>A	c.(133-135)Gct>Act	p.A45T	BET1_ENST00000433727.1_Missense_Mutation_p.A45T|BET1_ENST00000471446.1_5'Flank|AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000425626.1_Missense_Mutation_p.A45T|AC006378.2_ENST00000426193.2_RNA	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein	45	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)|vesicle fusion with Golgi apparatus (GO:0048280)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			GATTTTATAGCAGTTACTTTG	0.308																																																	0													49	47	48					7																	93628493		2203	4300	6503	SO:0001583	missense	0			AF007551	CCDS5635.1	7q21.1-q22	2013-03-08	2013-03-08		ENSG00000105829	ENSG00000105829			14562	protein-coding gene	gene with protein product	"Golgi vesicular membrane trafficking protein p18", "Bet1p homolog"	605456	"Bet1 (S. cerevisiae) homolog", "BET1 homolog (S. cerevisiae)", "blocked early in transport 1 homolog (S. cerevisiae)"			9382863, 10449330	Standard	XM_005250109		Approved	hbet1	uc003unf.1	O15155	OTTHUMG00000023487	ENST00000222547.3:c.133G>A	7.37:g.93628493C>T	ENSP00000222547:p.Ala45Thr		Q96EA0	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfscan_T_SNARE_dom	p.A45T	ENST00000222547.3	37	c.133	CCDS5635.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.71|19.71	3.878124|3.878124	0.72294|0.72294	.|.	.|.	ENSG00000105829|ENSG00000105829	ENST00000222547;ENST00000433727;ENST00000425626|ENST00000457139	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Target SNARE coiled-coil domain (3);|.	0.048240|.	0.85682|.	D|.	0.000000|.	T|T	0.74199|0.74199	0.3685|0.3685	M|M	0.64260|0.64260	1.97|1.97	0.80722|0.80722	D|D	1|1	B|.	0.29212|.	0.237|.	B|.	0.35278|.	0.199|.	T|T	0.71494|0.71494	-0.4576|-0.4576	9|5	0.15499|.	T|.	0.54|.	.|.	19.2608|19.2608	0.93967|0.93967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	45|.	O15155|.	BET1_HUMAN|.	T|Y	45|59	.|.	ENSP00000222547:A45T|.	A|C	-|-	1|2	0|0	BET1|BET1	93466429|93466429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.529000|0.529000	0.34654|0.34654	5.114000|5.114000	0.64648|0.64648	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GCT|TGC	BET1	-	pfam_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000105829		0.308	BET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BET1	HGNC	protein_coding	OTTHUMT00000255181.2	-	0	95	0	C	NM_005868		93628493	-1	tier1	-	no_errors	ENST00000357520	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	93628493	C	T	93628493	3	4	180	1	0	0	0	0	1	0	0	0	1409	710	25	3	235	3	BET1	7	93628493	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	695722	93628493	65510170	105	44764											
ADCK2	90956	genome.wustl.edu	37	chr7	140380866	140380866	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcctgtgtccagttacCagcaggcaggaattcccgtg	7	10	13	11	1	0	0	0	0	0	0	2	1	2	1	4	2	3	3	4	2	2	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr7:140380866C>T	ENST00000072869.4	+	4	1412	c.1234C>T	c.(1234-1236)Cag>Tag	p.Q412*	ADCK2_ENST00000476491.1_Nonsense_Mutation_p.Q412*	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	412	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)					GTCCAGTTACCAGCAGGCAGG	0.572																																																	0													140	112	121					7																	140380866		2203	4300	6503	SO:0001587	stop_gained	0			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.1234C>T	7.37:g.140380866C>T	ENSP00000072869:p.Gln412*		Q96CN6|Q9Y6T5	Nonsense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.Q412*	ENST00000072869.4	37	c.1234	CCDS5861.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.402311|5.402311	0.96030|0.96030	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000483369|ENST00000072869;ENST00000476491;ENST00000473512	.|.	.|.	.|.	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	.|0.102019	.|0.42964	.|D	.|0.000638	T|.	0.27663|.	0.0680|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29027|.	-1.0025|.	3|.	.|0.06494	.|T	.|0.89	-29.0145|-29.0145	9.9853|9.9853	0.41839|0.41839	0.0:0.9061:0.0:0.0939|0.0:0.9061:0.0:0.0939	.|.	.|.	.|.	.|.	L|X	249|412;412;52	.|.	.|ENSP00000072869:Q412X	P|Q	+|+	2|1	0|0	ADCK2|ADCK2	140027335|140027335	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.003000|3.003000	0.49505|0.49505	2.262000|2.262000	0.75019|0.75019	0.561000|0.561000	0.74099|0.74099	CCA|CAG	ADCK2	-	superfamily_Kinase-like_dom	ENSG00000133597		0.572	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK2	HGNC	protein_coding	OTTHUMT00000348734.1	-	0	79	0	C	NM_052853		140380866	1	tier1	-	no_errors	ENST00000072869	ensembl	human	known	74_37	nonsense	51.52	32	34	SNP	1.000	T	T	140380866	C	T	140380866	4	4	180	1	0	0	0	0	0	1	0	0	289	595	21	3	1248	3	ADCK2	7	140380866	Nonsense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	46752373	140380866	18757797	106	44765											
NOBOX	135935	genome.wustl.edu	37	chr7	144098371	144098371	+	Frame_Shift_Del	DEL	C	C	-																															gcattaggctttttctgcttCccgggggctggagaatagga																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr7:144098371delC	ENST00000467773.1	-	4	611	c.612delG	c.(610-612)gggfs	p.G204fs	NOBOX_ENST00000223140.5_Frame_Shift_Del_p.G119fs|NOBOX_ENST00000483238.1_Frame_Shift_Del_p.G204fs	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	204					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)					TTTTCTGCTTCCCGGGGGCTG	0.597																																																	0													33	35	34					7																	144098371		1929	4128	6057	SO:0001589	frameshift_variant	0					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.612delG	7.37:g.144098371delC	ENSP00000419457:p.Gly204fs		A6NCD3|A8MZN5	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.K205fs	ENST00000467773.1	37	c.612		7																																																																																			NOBOX	-	NULL	ENSG00000106410		0.597	NOBOX-002	KNOWN	basic	protein_coding	NOBOX	HGNC	protein_coding	OTTHUMT00000350095.1		0	62	0	C	XM_001134420		144098371	-1	tier1		no_errors	ENST00000467773	ensembl	human	known	74_37	frame_shift_del	21.57	40	11	DEL	0.000	-	-	144098371	C	-	144098371	7	5	180	1	0	1	0	1	0	0	0	0	10551	842	30	0	1395	0	NOBOX	7	144098371	Frame_Shift_Del	DEL	C	TCGA-XP-A8T8-01A-11D-A36J-09	3717505	144098371	15040292	107	44766											
ABCF2	10061	genome.wustl.edu	37	chr7	150915205	150915205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaagagttgacttccctgCtccattgggccctaccagag	9	9	10	13	0	0	4	0	1	0	3	2	4	2	4	4	1	2	2	4	1	2	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr7:150915205C>A	ENST00000287844.2	-	11	1409	c.1300G>T	c.(1300-1302)Gca>Tca	p.A434S	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.A434S	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	434	ABC transporter 2. {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)		GACTTCCCTGCTCCATTGGGC	0.507																																																	0													144	121	129					7																	150915205		2203	4300	6503	SO:0001583	missense	0			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.1300G>T	7.37:g.150915205C>A	ENSP00000287844:p.Ala434Ser		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A434S	ENST00000287844.2	37	c.1300	CCDS5923.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.641403	0.96704	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	D;D	0.93189	-3.18;-3.18	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	N	0.20304	0.555	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.986;0.986	D	0.95182	0.8300	10	0.87932	D	0	-5.9012	18.3531	0.90345	0.0:1.0:0.0:0.0	.	434;434	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	S	434	ENSP00000222388:A434S;ENSP00000287844:A434S	ENSP00000222388:A434S	A	-	1	0	ABCF2	150546138	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.225000	0.78051	2.571000	0.86741	0.591000	0.81541	GCA	ABCF2	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000033050		0.507	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1	-	0	40	0	C	NM_005692		150915205	-1	tier1	-	no_errors	ENST00000222388	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	150915205	C	A	150915205	3	1	180	1	0	0	0	0	1	0	0	0	66	797	28	3	632	3	ABCF2	7	150915205	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	6816834	150915205	8223458	108	44767											
RNF32	140545	genome.wustl.edu	37	chr7	156450240	156450240	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcctcatgaacaggtgctGctttcatgctcccatgtgtt	6	16	8	11	0	2	1	2	1	0	0	4	1	4	1	2	1	4	4	2	1	1	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr7:156450240G>T	ENST00000405335.1	+	6	832	c.423G>T	c.(421-423)ctG>ctT	p.L141L	RNF32_ENST00000311822.8_Silent_p.L141L|RNF32_ENST00000392741.2_Silent_p.L141L|RNF32_ENST00000432459.2_Silent_p.L141L|RNF32_ENST00000317955.5_Silent_p.L141L|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000343665.4_Intron|RNF32_ENST00000392743.2_Silent_p.L141L|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	141						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)		AACAGGTGCTGCTTTCATGCT	0.463																																																	0													218	190	200					7																	156450240		2203	4300	6503	SO:0001819	synonymous_variant	0				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.423G>T	7.37:g.156450240G>T			Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Silent	SNP	pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING	p.L141	ENST00000405335.1	37	c.423	CCDS5944.1	7																																																																																			RNF32	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000105982		0.463	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF32	HGNC	protein_coding	OTTHUMT00000322660.2	-	0	53	0	G	NM_030936		156450240	1	tier1	-	no_errors	ENST00000317955	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T	T	156450240	G	T	156450240	2	4	180	1	0	0	0	0	0	0	0	1	13533	1306	46	3		3	RNF32	7	156450240	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	5535035	156450240	2688423	109	44768											
WDR60	55112	genome.wustl.edu	37	chr7	158664026	158664026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggagagggacagagacaGacagagggagaggagaagag	16	1	21	3	0	0	7	0	0	0	7	0	12	0	8	0	5	0	0	0	5	1	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr7:158664026G>A	ENST00000407559.3	+	3	421	c.263G>A	c.(262-264)aGa>aAa	p.R88K		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	88					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		gacagagacagacagagggag	0.572																																																	0													54	67	62					7																	158664026		1988	4112	6100	SO:0001583	missense	0				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.263G>A	7.37:g.158664026G>A	ENSP00000384290:p.Arg88Lys		Q9NW58	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R88K	ENST00000407559.3	37	c.263	CCDS47757.1	7	.	.	.	.	.	.	.	.	.	.	G	2.155	-0.393616	0.04899	.	.	ENSG00000126870	ENST00000407559;ENST00000397143	T;T	0.47177	1.94;0.85	4.88	-4.38	0.03622	.	0.492611	0.23132	N	0.051563	T	0.20981	0.0505	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36578	-0.9742	10	0.05721	T	0.95	-10.4656	8.4857	0.33069	0.2718:0.1514:0.5767:0.0	.	88	Q8WVS4	WDR60_HUMAN	K	88;98	ENSP00000384290:R88K;ENSP00000380330:R98K	ENSP00000380330:R98K	R	+	2	0	WDR60	158356787	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	-0.000000	0.12993	-0.800000	0.04433	-0.302000	0.09304	AGA	WDR60	-	NULL	ENSG00000126870		0.572	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	-	0	114	0	G	NM_018051		158664026	1	tier1	-	no_errors	ENST00000407559	ensembl	human	known	74_37	missense	40.00	30	20	SNP	0.000	A	A	158664026	G	A	158664026	3	1	180	1	0	0	0	0	1	0	0	0	17360	942	33	3	273	3	WDR60	7	158664026	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	2213786	158664026	474637	110	44769											
CSMD1	64478	genome.wustl.edu	37	chr8	3076825	3076825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccacggaggcatcactccGaaatgccagaaacaggctgt	12	5	11	13	2	1	1	1	0	0	1	2	3	2	2	3	3	2	2	3	3	2	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr8:3076825G>A	ENST00000520002.1	-	30	5182	c.4627C>T	c.(4627-4629)Cgg>Tgg	p.R1543W	CSMD1_ENST00000602723.1_Missense_Mutation_p.R1543W|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1543W|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1542W|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1542W|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1543W|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1542W			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1543	CUB 9. {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)		GCATCACTCCGAAATGCCAGA	0.483																																																	0													49	53	52					8																	3076825		1840	4094	5934	SO:0001583	missense	0					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.4627C>T	8.37:g.3076825G>A	ENSP00000430733:p.Arg1543Trp		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R1543W	ENST00000520002.1	37	c.4627		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.09|14.09	2.431947|2.431947	0.43122|0.43122	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.30182|.	1.54;1.54;1.54;1.54;1.54|.	5.48|5.48	3.59|3.59	0.41128|0.41128	CUB (5);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.76147|0.76147	0.3947|0.3947	M|M	0.82193|0.82193	2.58|2.58	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.995;1.0;1.0|.	T|T	0.77469|0.77469	-0.2576|-0.2576	10|5	0.66056|.	D|.	0.02|.	.|.	14.4445|14.4445	0.67340|0.67340	0.0:0.0:0.7235:0.2765|0.0:0.0:0.7235:0.2765	.|.	1543;1543;1543|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	W|L	1543;1543;1405;1542;1542;1542|1022	ENSP00000383047:R1543W;ENSP00000430733:R1543W;ENSP00000441462:R1542W;ENSP00000446243:R1542W;ENSP00000441675:R1542W|.	ENSP00000320445:R1405W|.	R|S	-|-	1|2	2|0	CSMD1|CSMD1	3064232|3064232	1.000000|1.000000	0.71417|0.71417	0.354000|0.354000	0.25760|0.25760	0.080000|0.080000	0.17528|0.17528	3.404000|3.404000	0.52623|0.52623	0.695000|0.695000	0.31675|0.31675	0.555000|0.555000	0.69702|0.69702	CGG|TCG	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0	59	0	G	NM_033225		3076825	-1			no_errors	ENST00000520002	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	3076825	G	A	3076825	3	1	180	1	0	0	0	0	1	0	0	0	3953	1057	37	1	6238	1	CSMD1	8	3076825	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09		3076825	143287197	111	44770											
PPP3CC	5533	genome.wustl.edu	37	chr8	22368688	22368688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcttaaaccagcagtttCtctgtgtacatggaggaatg	10	12	9	10	0	2	0	0	0	2	0	3	2	2	2	2	2	3	3	2	2	4	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr8:22368688C>G	ENST00000240139.5	+	5	901	c.574C>G	c.(574-576)Ctc>Gtc	p.L192V	PPP3CC_ENST00000518852.1_Missense_Mutation_p.L192V|PPP3CC_ENST00000289963.8_Missense_Mutation_p.L192V|PPP3CC_ENST00000397775.3_Missense_Mutation_p.L192V	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	192					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		CCAGCAGTTTCTCTGTGTACA	0.358																																																	0													179	149	159					8																	22368688		2203	4300	6503	SO:0001583	missense	0				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.574C>G	8.37:g.22368688C>G	ENSP00000240139:p.Leu192Val		B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.L192V	ENST00000240139.5	37	c.574	CCDS34859.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.56|19.56	3.851413|3.851413	0.71719|0.71719	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000522034;ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000523620	D;D|D;D;D;D;D	0.84370|0.86694	-1.84;-1.84|-2.16;-2.16;-2.16;-2.16;-2.16	6.03|6.03	4.01|4.01	0.46588|0.46588	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94305|0.94305	0.8170|0.8170	H|H	0.97707|0.97707	4.06|4.06	0.53688|0.53688	D|D	0.999978|0.999978	.|D;P;P;P	.|0.53745	.|0.962;0.512;0.784;0.911	.|P;P;P;P	.|0.58780	.|0.845;0.543;0.768;0.651	D|D	0.93558|0.93558	0.6892|0.6892	7|10	0.87932|0.87932	D|D	0|0	-13.6089|-13.6089	8.6147|8.6147	0.33824|0.33824	0.0:0.7245:0.0:0.2755|0.0:0.7245:0.0:0.2755	.|.	.|192;192;192;192	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	L|V	41;68|192;192;192;192;18	ENSP00000430783:F41L;ENSP00000428390:F68L|ENSP00000429379:L192V;ENSP00000240139:L192V;ENSP00000289963:L192V;ENSP00000380878:L192V;ENSP00000430555:L18V	ENSP00000428390:F68L|ENSP00000240139:L192V	F|L	+|+	3|1	2|0	PPP3CC|PPP3CC	22424633|22424633	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.776000|1.776000	0.38594|0.38594	0.692000|0.692000	0.31613|0.31613	0.655000|0.655000	0.94253|0.94253	TTC|CTC	PPP3CC	-	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000120910		0.358	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP3CC	HGNC	protein_coding	OTTHUMT00000375652.1	-	0	85	0	C	NM_005605		22368688	1	tier1	-	no_errors	ENST00000240139	ensembl	human	known	74_37	missense	23.53	65	20	SNP	1.000	G	G	22368688	C	G	22368688	3	3	180	1	0	0	0	0	1	0	0	0	12441	913	32	5	592	5	PPP3CC	8	22368688	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	19291863	22368688	123995334	112	44771											
AGPAT6	137964	genome.wustl.edu	37	chr8	41469726	41469726	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaagaaatggtggcatCtgtgtggccaatcatacctc	12	9	10	10	0	2	2	1	0	1	2	3	2	2	2	3	3	1	1	3	3	4	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr8:41469726C>A	ENST00000396987.3	+	7	1656	c.729C>A	c.(727-729)atC>atA	p.I243I	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	243					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)			ATGGTGGCATCTGTGTGGCCA	0.458																																																	0													177	146	157					8																	41469726		2203	4300	6503	SO:0001819	synonymous_variant	0			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.729C>A	8.37:g.41469726C>A			Q86V89	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.I243	ENST00000396987.3	37	c.729	CCDS6117.1	8																																																																																			AGPAT6	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	ENSG00000158669		0.458	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT6	HGNC	protein_coding	OTTHUMT00000377158.1		0	75	0	C	NM_178819		41469726	1			no_errors	ENST00000396987	ensembl	human	known	74_37	silent	5.77	49	3	SNP	1.000	A	A	41469726	C	A	41469726	2	1	180	1	0	0	0	0	0	0	0	1	391	903	32	3		3	AGPAT6	8	41469726	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	19101038	41469726	104894296	113	44772											
PEX2	5828	genome.wustl.edu	37	chr8	77895540	77895540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcgattcctgatttcagtGgctgcagactgtgtacttct	6	16	9	10	1	3	2	1	1	2	1	5	3	4	2	1	1	2	3	1	1	1	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr8:77895540G>T	ENST00000419564.2	-	4	1339	c.875C>A	c.(874-876)cCa>cAa	p.P292Q	PEX2_ENST00000520103.1_Missense_Mutation_p.P292Q|PEX2_ENST00000357039.4_Missense_Mutation_p.P292Q|PEX2_ENST00000522527.1_Missense_Mutation_p.P292Q	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	292					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						TGATTTCAGTGGCTGCAGACT	0.353																																																	0													97	100	99					8																	77895540		2203	4300	6503	SO:0001583	missense	0			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.875C>A	8.37:g.77895540G>T	ENSP00000400984:p.Pro292Gln		Q567S6|Q9BW41	Missense_Mutation	SNP	pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING	p.P292Q	ENST00000419564.2	37	c.875	CCDS6221.1	8	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447033	0.84101	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.35	5.35	0.76521	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.52586	-0.8556	10	0.33141	T	0.24	-9.104	19.2714	0.94011	0.0:0.0:1.0:0.0	.	292	P28328	PEX2_HUMAN	Q	292	ENSP00000349543:P292Q;ENSP00000400984:P292Q;ENSP00000428590:P292Q;ENSP00000428638:P292Q	ENSP00000349543:P292Q	P	-	2	0	PEX2	78058095	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.258000	0.78371	2.792000	0.96026	0.557000	0.71058	CCA	PEX2	-	NULL	ENSG00000164751		0.353	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX2	HGNC	protein_coding	OTTHUMT00000379122.1	-	0	115	0	G	NM_000318		77895540	-1	tier1	-	no_errors	ENST00000357039	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	77895540	G	T	77895540	3	4	180	1	0	0	0	0	1	0	0	0	11784	1348	47	3	46	3	PEX2	8	77895540	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	36425814	77895540	68468482	114	44773											
CNGB3	54714	genome.wustl.edu	37	chr8	87751931	87751931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgactggagttgacttggTtttgagagatttctcttcac	7	16	11	7	1	2	4	1	3	1	1	3	6	2	5	0	2	0	2	0	2	0	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr8:87751931T>C	ENST00000320005.5	-	2	210	c.163A>G	c.(163-165)Acc>Gcc	p.T55A	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	55					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)	p.T55S(1)|p.T55P(1)		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						GTTGACTTGGTTTTGAGAGAT	0.313																																																	2	Substitution - Missense(2)	lung(1)|pancreas(1)											182	157	165					8																	87751931		2203	4300	6503	SO:0001583	missense	0			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.163A>G	8.37:g.87751931T>C	ENSP00000316605:p.Thr55Ala		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.T55A	ENST00000320005.5	37	c.163	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862442	0.32884	.	.	ENSG00000170289	ENST00000320005	T	0.27890	1.64	4.36	1.79	0.24919	.	.	.	.	.	T	0.17704	0.0425	L	0.36672	1.1	0.24957	N	0.991753	B	0.11235	0.004	B	0.04013	0.001	T	0.34129	-0.9841	9	0.06891	T	0.86	.	4.8737	0.13646	0.0:0.3228:0.0:0.6772	.	55	Q9NQW8	CNGB3_HUMAN	A	55	ENSP00000316605:T55A	ENSP00000316605:T55A	T	-	1	0	CNGB3	87821047	0.519000	0.26242	0.879000	0.34478	0.828000	0.46876	0.374000	0.20501	0.651000	0.30788	0.533000	0.62120	ACC	CNGB3	-	NULL	ENSG00000170289		0.313	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	-	0	45	0	T	NM_019098		87751931	-1	tier1	-	no_errors	ENST00000320005	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.970	C	C	87751931	T	C	87751931	3	2	180	1	0	0	0	0	1	0	0	0	3608	1725	60	4	2334	4	CNGB3	8	87751931	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	9856391	87751931	58612091	115	44774											
TNFRSF11B	4982	genome.wustl.edu	37	chr8	119941094	119941094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttgtgtgttttctacaggGtgctttagatgacgtctcat	7	18	10	6	1	2	2	1	1	2	1	3	2	2	2	0	1	2	2	0	1	2	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr8:119941094G>T	ENST00000297350.4	-	3	853	c.475C>A	c.(475-477)Ccc>Acc	p.P159T		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	159					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TTTCTACAGGGTGCTTTAGAT	0.413																																																	0													210	190	197					8																	119941094		2203	4300	6503	SO:0001583	missense	0			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"Tumor necrosis factor receptor superfamily"	11909	protein-coding gene	gene with protein product		602643	"osteoprotegerin"	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.475C>A	8.37:g.119941094G>T	ENSP00000297350:p.Pro159Thr		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg	p.P159T	ENST00000297350.4	37	c.475	CCDS6326.1	8	.	.	.	.	.	.	.	.	.	.	G	8.439	0.850456	0.17034	.	.	ENSG00000164761	ENST00000297350	T	0.60548	0.18	5.73	4.84	0.62591	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.406640	0.27600	N	0.018658	T	0.44726	0.1307	L	0.36672	1.1	0.29230	N	0.873317	B	0.20164	0.042	B	0.15870	0.014	T	0.36114	-0.9761	9	.	.	.	-19.1274	10.4033	0.44241	0.0:0.3351:0.5397:0.1252	.	159	O00300	TR11B_HUMAN	T	159	ENSP00000297350:P159T	.	P	-	1	0	TNFRSF11B	120010275	0.276000	0.24211	0.999000	0.59377	0.998000	0.95712	0.316000	0.19469	1.388000	0.46506	0.650000	0.86243	CCC	TNFRSF11B	-	pirsf_TNFR_11B,smart_TNFR/NGFR_Cys_rich_reg	ENSG00000164761		0.413	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11B	HGNC	protein_coding	OTTHUMT00000381220.1		0	135	0	G			119941094	-1			no_errors	ENST00000297350	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.869	T	T	119941094	G	T	119941094	3	4	180	1	0	0	0	0	1	0	0	0	16332	1261	44	3	742	3	TNFRSF11B	8	119941094	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	32189163	119941094	26422928	116	44775											
ZFAT	57623	genome.wustl.edu	37	chr8	135622881	135622881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttacacttcttttctagttCaaggtcagactcgttaccta	9	16	5	11	1	4	1	2	0	2	1	5	1	4	1	1	1	2	2	1	1	5	8			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr8:135622881C>G	ENST00000377838.3	-	4	640	c.466G>C	c.(466-468)Gaa>Caa	p.E156Q	ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000520214.1_Missense_Mutation_p.E144Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.E144Q|ZFAT_ENST00000520727.1_Missense_Mutation_p.E144Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.E144Q	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	156					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)	p.E156Q(1)|p.E144Q(1)		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)			TTTTCTAGTTCAAGGTCAGAC	0.438																																																	2	Substitution - Missense(2)	kidney(2)											150	139	142					8																	135622881		1917	4122	6039	SO:0001583	missense	0			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.466G>C	8.37:g.135622881C>G	ENSP00000367069:p.Glu156Gln		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E156Q	ENST00000377838.3	37	c.466	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534336	0.45073	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000398946;ENST00000522257	T;T;T;T;T;T	0.46819	2.99;2.93;2.94;2.92;2.93;0.86	5.36	5.36	0.76844	.	0.456353	0.23549	N	0.046983	T	0.40423	0.1116	L	0.27053	0.805	0.80722	D	1	B;P;B	0.37330	0.201;0.59;0.319	B;B;B	0.43082	0.143;0.407;0.096	T	0.24261	-1.0165	10	0.37606	T	0.19	-15.7406	11.5429	0.50677	0.0:0.9183:0.0:0.0817	.	144;144;156	E9PBN4;Q9P243-3;Q9P243	.;.;ZFAT_HUMAN	Q	144;144;144;156;144;144;144;94	ENSP00000427879:E144Q;ENSP00000427831:E144Q;ENSP00000394501:E144Q;ENSP00000367069:E156Q;ENSP00000428483:E144Q;ENSP00000429983:E94Q	ENSP00000326997:E144Q	E	-	1	0	ZFAT	135692063	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	2.341000	0.43983	2.498000	0.84270	0.655000	0.94253	GAA	ZFAT	-	NULL	ENSG00000066827		0.438	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1		0	56	0	C	NM_001029939		135622881	-1			no_errors	ENST00000377838	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.999	G	G	135622881	C	G	135622881	3	3	180	1	0	0	0	0	1	0	0	0	17680	835	29	5	3317	5	ZFAT	8	135622881	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	15681787	135622881	10741141	117	44776											
PLEC	5339	genome.wustl.edu	37	chr8	144995674	144995674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccttgtagccagtgacggcgCgctcggccgacagcagcttg	6	7	14	14	5	0	1	0	1	0	0	1	2	0	1	3	2	3	4	3	2	1	3	rs201916690		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr8:144995674C>T	ENST00000322810.4	-	32	8895	c.8726G>A	c.(8725-8727)cGc>cAc	p.R2909H	PLEC_ENST00000354589.3_Missense_Mutation_p.R2772H|PLEC_ENST00000436759.2_Missense_Mutation_p.R2799H|PLEC_ENST00000527096.1_Missense_Mutation_p.R2795H|PLEC_ENST00000357649.2_Missense_Mutation_p.R2776H|PLEC_ENST00000398774.2_Missense_Mutation_p.R2740H|PLEC_ENST00000345136.3_Missense_Mutation_p.R2772H|PLEC_ENST00000356346.3_Missense_Mutation_p.R2758H|PLEC_ENST00000354958.2_Missense_Mutation_p.R2750H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2909	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						AGTGACGGCGCGCTCGGCCGA	0.662																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	7,4107		0,7,2050	34	43	40		8396,8273,8249,8726,8219,8315,8327,8315	4	0.8	8		40	0,8330		0,0,4165	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	29,29,29,29,29,29,29,29	0,7,6215	TT,TC,CC		0.0,0.1702,0.0563	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2799/4575,2758/4534,2750/4526,2909/4685,2740/4516,2772/4548,2776/4552,2772/4548	144995674	7,12437	2057	4165	6222	SO:0001583	missense	0			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.8726G>A	8.37:g.144995674C>T	ENSP00000323856:p.Arg2909His		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.R2909H	ENST00000322810.4	37	c.8726	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	9.166	1.019919	0.19355	0.001702	0.0	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	4.94	4.04	0.47022	.	0.090297	0.41097	U	0.000955	T	0.78220	0.4249	M	0.79258	2.445	0.40909	D	0.984219	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.999	P;P;P;P;P;P;P;P	0.59115	0.852;0.852;0.852;0.716;0.852;0.852;0.852;0.852	T	0.80598	-0.1311	10	0.45353	T	0.12	.	14.454	0.67404	0.1486:0.8514:0.0:0.0	.	2799;2758;2750;2909;2740;2772;2776;2772	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	2772;2776;2772;2740;2909;2750;2758;2799;2795	ENSP00000344848:R2772H;ENSP00000350277:R2776H;ENSP00000346602:R2772H;ENSP00000381756:R2740H;ENSP00000323856:R2909H;ENSP00000347044:R2750H;ENSP00000348702:R2758H;ENSP00000388180:R2799H;ENSP00000434583:R2795H	ENSP00000323856:R2909H	R	-	2	0	PLEC	145067662	0.966000	0.33281	0.824000	0.32777	0.265000	0.26407	2.551000	0.45820	1.178000	0.42870	0.449000	0.29647	CGC	PLEC	-	smart_Plectin_repeat	ENSG00000178209		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	61	0	C	NM_000445		144995674	-1	tier1	rs201916690	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.996	T	T	144995674	C	T	144995674	3	4	180	1	0	0	0	0	1	0	0	0	12091	768	27	1	5332	1	PLEC	8	144995674	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	9372793	144995674	1368348	118	44777											
SMARCA2	6595	genome.wustl.edu	37	chr9	2084191	2084191	+	Frame_Shift_Del	DEL	G	G	-																															taaaagacaagcacattcttGcaaaggtatgtttttaaaaa																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr9:2084191delG	ENST00000382203.1	+	17	2730	c.2521delG	c.(2521-2523)gcafs	p.A841fs	SMARCA2_ENST00000382194.1_Frame_Shift_Del_p.A841fs|SMARCA2_ENST00000357248.2_Frame_Shift_Del_p.A841fs|SMARCA2_ENST00000349721.2_Frame_Shift_Del_p.A841fs			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	841	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCACATTCTTGCAAAGGTATG	0.393																																																	0													46	46	46					9																	2084191		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2521delG	9.37:g.2084191delG	ENSP00000371638:p.Ala841fs		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.A841fs	ENST00000382203.1	37	c.2521	CCDS34977.1	9																																																																																			SMARCA2	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000080503		0.393	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1		0	31	0	G	NM_003070		2084191	1	tier1		no_errors	ENST00000349721	ensembl	human	known	74_37	frame_shift_del	28.57	5	2	DEL	1.000	-	-	2084191	G	-	2084191	7	5	180	1	0	1	0	1	0	0	0	0	14814	1319	46	0	2583	0	SMARCA2	9	2084191	Frame_Shift_Del	DEL	G	TCGA-XP-A8T8-01A-11D-A36J-09		2084191	139129240	119	44778											
C9orf131	138724	genome.wustl.edu	37	chr9	35042298	35042298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggggctaagggggatatggGgcttctctggggccaactga	7	9	18	7	0	1	1	0	1	1	0	2	2	1	2	1	8	1	2	1	8	3	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr9:35042298G>A	ENST00000312292.5	+	1	94	c.47G>A	c.(46-48)gGg>gAg	p.G16E	C9orf131_ENST00000354479.5_Intron|C9orf131_ENST00000421362.2_Intron	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	16										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)			GGGGATATGGGGCTTCTCTGG	0.542																																																	0													54	52	52					9																	35042298		2203	4300	6503	SO:0001583	missense	0			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.47G>A	9.37:g.35042298G>A	ENSP00000308279:p.Gly16Glu		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.G16E	ENST00000312292.5	37	c.47	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	G	8.153	0.787764	0.16258	.	.	ENSG00000174038	ENST00000312292;ENST00000378745	T;T	0.59364	1.1;0.27	4.63	-0.507	0.11985	.	0.607939	0.14829	N	0.295969	T	0.36054	0.0953	N	0.19112	0.55	0.09310	N	1	B	0.19935	0.04	B	0.26693	0.072	T	0.26430	-1.0103	10	0.15066	T	0.55	-0.378	7.7386	0.28829	0.4662:0.0:0.5338:0.0	.	16	Q5VYM1	CI131_HUMAN	E	16	ENSP00000308279:G16E;ENSP00000368019:G16E	ENSP00000308279:G16E	G	+	2	0	C9orf131	35032298	0.027000	0.19231	0.012000	0.15200	0.006000	0.05464	0.322000	0.19576	-0.179000	0.10654	-0.136000	0.14681	GGG	C9orf131	-	NULL	ENSG00000174038		0.542	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	-	0	55	0	G	NM_203299		35042298	1	tier1	-	no_errors	ENST00000312292	ensembl	human	known	74_37	missense	36.54	33	19	SNP	0.004	A	A	35042298	G	A	35042298	3	1	180	1	0	0	0	0	1	0	0	0	2464	1232	43	3	65	3	C9orf131	9	35042298	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	32958107	35042298	106171133	120	44779											
FANCG	2189	genome.wustl.edu	37	chr9	35077348	35077348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcatctaattcctcagctgGgggactccaagttttcagaa	11	11	9	10	0	3	1	2	0	1	1	5	2	5	2	2	2	2	3	2	2	3	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr9:35077348G>T	ENST00000378643.3	-	5	1050	c.559C>A	c.(559-561)Cca>Aca	p.P187T	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	187					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTCAGCTGGGGGACTCCAA	0.527			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		Fanconi anaemia G	9	9p13	2189	"Fanconi anemia, complementation group G"		L	0													132	134	134					9																	35077348		2203	4300	6503	SO:0001583	missense	0			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.559C>A	9.37:g.35077348G>T	ENSP00000367910:p.Pro187Thr			Missense_Mutation	SNP	superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat	p.P187T	ENST00000378643.3	37	c.559	CCDS6574.1	9	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289216	0.40494	.	.	ENSG00000221829	ENST00000378643;ENST00000543657;ENST00000448890	T;D	0.91464	0.38;-2.85	5.88	5.88	0.94601	.	.	.	.	.	D	0.94951	0.8367	M	0.74881	2.28	0.48975	D	0.999737	D	0.89917	1.0	D	0.83275	0.996	D	0.94877	0.8035	9	0.66056	D	0.02	-12.7918	15.7423	0.77910	0.0:0.0:1.0:0.0	.	187	O15287	FANCG_HUMAN	T	187	ENSP00000367910:P187T;ENSP00000409607:P187T	ENSP00000367910:P187T	P	-	1	0	FANCG	35067348	0.999000	0.42202	0.744000	0.31058	0.104000	0.19210	4.839000	0.62810	2.782000	0.95742	0.655000	0.94253	CCA	FANCG	-	superfamily_Sig_transdc_His_kin_Hpt_dom	ENSG00000221829		0.527	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCG	HGNC	protein_coding	OTTHUMT00000052269.1	-	0	99	0	G	NM_004629		35077348	-1	tier1	-	no_errors	ENST00000378643	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.952	T	T	35077348	G	T	35077348	3	4	180	1	0	0	0	0	1	0	0	0	5690	1232	43	3	1349	3	FANCG	9	35077348	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	35050	35077348	106136083	121	44780											
SPAG8	4882	genome.wustl.edu	37	chr9	35811389	35811390	+	IGR	DNP	TC	TC	AG																															acccgatctgccaccaggttTctgaaccctggaggaataca																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr9:35811389_35811390TC>AG	ENST00000342694.2	+	0	3686				SPAG8_ENST00000340291.2_Missense_Mutation_p.R218T|SPAG8_ENST00000484764.1_Missense_Mutation_p.R216T|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Missense_Mutation_p.R218T|HINT2_ENST00000474908.1_5'Flank|AL133410.1_ENST00000582432.1_RNA	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CCACCAGGTTTCTGAACCCTGG	0.579																																																	0																																										SO:0001628	intergenic_variant	0			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	Exception_encountered	9.37:g.35811389_35811390delinsAG			B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	prints_Antifreeze_1	p.R218S|p.R218T	ENST00000342694.2	37	c.654|c.653	CCDS6590.1	9																																																																																			SPAG8	-	NULL	ENSG00000137098		0.579	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG8	HGNC	protein_coding	OTTHUMT00000052345.1	-	0	105	0	T|C			35811389|35811390	-1	tier1	-	no_errors	ENST00000340291	ensembl	human	known	74_37	missense	23.81	32	10	SNP	0.000	A|G	AG	35811390	TC	AG	35811389	1	1	180	0	1	0	0	0	0	0	0	0	15031	1780	62	5		5	SPAG8	9	35811389	IGR	DNP	TC	TCGA-XP-A8T8-01A-11D-A36J-09	734041	35811389	105402042	122	44781											
PRUNE2	158471	genome.wustl.edu	37	chr9	79321817	79321817	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatctcctgttgtccctgtTtctggagaagatctcttctc	6	16	7	12	0	4	2	0	0	4	2	8	3	5	2	2	1	0	2	2	1	1	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr9:79321817T>G	ENST00000376718.3	-	8	5496	c.5373A>C	c.(5371-5373)gaA>gaC	p.E1791D	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E1432D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1791					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						TTGTCCCTGTTTCTGGAGAAG	0.458																																																	0													96	76	82					9																	79321817		1568	3582	5150	SO:0001583	missense	0			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.5373A>C	9.37:g.79321817T>G	ENSP00000365908:p.Glu1791Asp		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E1432D	ENST00000376718.3	37	c.4296	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.239|6.239	0.412146|0.412146	0.11812|0.11812	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.52526|.	0.66;0.66|.	5.53|5.53	-1.42|-1.42	0.08913|0.08913	.|.	0.239792|.	0.29266|.	N|.	0.012643|.	T|T	0.34687|0.34687	0.0906|0.0906	L|L	0.54323|0.54323	1.7|1.7	0.25608|0.25608	N|N	0.986527|0.986527	B|.	0.20887|.	0.049|.	B|.	0.19666|.	0.026|.	T|T	0.36890|0.36890	-0.9729|-0.9729	10|5	0.37606|.	T|.	0.19|.	-7.1944|-7.1944	1.1927|1.1927	0.01868|0.01868	0.2389:0.1404:0.1235:0.4971|0.2389:0.1404:0.1235:0.4971	.|.	1791|.	Q8WUY3|.	PRUN2_HUMAN|.	D|H	1791;1432;1790|1113	ENSP00000365908:E1791D;ENSP00000397425:E1432D|.	ENSP00000365908:E1791D|.	E|N	-|-	3|1	2|0	PRUNE2|PRUNE2	78511637|78511637	0.121000|0.121000	0.22262|0.22262	0.270000|0.270000	0.24601|0.24601	0.073000|0.073000	0.16967|0.16967	0.205000|0.205000	0.17356|0.17356	0.087000|0.087000	0.17167|0.17167	0.533000|0.533000	0.62120|0.62120	GAA|AAC	PRUNE2	-	NULL	ENSG00000106772		0.458	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	-	0	32	0	T	NM_138818		79321817	-1	tier1	-	no_errors	ENST00000428286	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.086	G	G	79321817	T	G	79321817	3	3	180	1	0	0	0	0	1	0	0	0	12683	1838	64	4	3941	4	PRUNE2	9	79321817	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	43510428	79321817	61891614	123	44782											
SECISBP2	79048	genome.wustl.edu	37	chr9	91940488	91940488	+	Missense_Mutation	SNP	A	A	G	1	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	ttactcagtgcctggctcccAgtatctttataaccaaccca	10	12	5	14	0	2	0	1	0	1	0	3	0	3	0	4	1	4	2	4	1	5	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr9:91940488A>G	ENST00000375807.3	+	3	400	c.329A>G	c.(328-330)cAg>cGg	p.Q110R	SECISBP2_ENST00000339901.4_Missense_Mutation_p.Q37R|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Missense_Mutation_p.Q42R	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	110					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						CCTGGCTCCCAGTATCTTTAT	0.423																																																	0													214	204	207					9																	91940488		2203	4300	6503	SO:0001583	missense	0			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.329A>G	9.37:g.91940488A>G	ENSP00000364965:p.Gln110Arg		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.Q110R	ENST00000375807.3	37	c.329	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	A	4.240	0.043535	0.08196	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.75938	-0.93;-0.98;-0.92	4.17	-1.18	0.09617	.	1.082170	0.07022	N	0.827008	T	0.58452	0.2123	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.0;0.001;0.001;0.0	B;B;B;B;B	0.09377	0.004;0.001;0.003;0.002;0.002	T	0.39440	-0.9614	10	0.36615	T	0.2	-0.2068	4.6155	0.12424	0.4512:0.2997:0.2491:0.0	.	130;110;37;110;42	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;.;SEBP2_HUMAN;.	R	110;130;37;42	ENSP00000364965:Q110R;ENSP00000364959:Q37R;ENSP00000436650:Q42R	ENSP00000364959:Q37R	Q	+	2	0	SECISBP2	91130308	0.001000	0.12720	0.007000	0.13788	0.083000	0.17756	0.415000	0.21181	-0.300000	0.08895	0.379000	0.24179	CAG	SECISBP2	-	NULL	ENSG00000187742		0.423	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3		0	57	0	A	NM_024077		91940488	1			no_errors	ENST00000375807	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.123	G	G	91940488	A	G	91940488	3	3	180	1	0	0	0	0	1	0	0	0	14051	188	7	4	339	4	SECISBP2	9	91940488	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	12618671	91940488	49272943	124	44783											
ZNF484	83744	genome.wustl.edu	37	chr9	95610494	95610494	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgttgcattgtttctattaTataaggttatgataggctcc	9	18	8	6	0	1	1	0	1	1	0	2	1	2	1	1	2	1	5	1	2	6	9			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr9:95610494T>C	ENST00000375495.3	-	5	723	c.575A>G	c.(574-576)tAt>tGt	p.Y192C	ZNF484_ENST00000332591.6_Missense_Mutation_p.Y156C|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.Y156C|ZNF484_ENST00000395506.3_Missense_Mutation_p.Y194C	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTTTCTATTATATAAGGTTAT	0.358																																																	0													96	101	100					9																	95610494		2203	4300	6503	SO:0001583	missense	0			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.575A>G	9.37:g.95610494T>C	ENSP00000364645:p.Tyr192Cys		B1AL89|B4DRI2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y194C	ENST00000375495.3	37	c.581	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	0.634	-0.816017	0.02776	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.06371	3.31;3.43;3.46;3.31	2.94	-1.73	0.08081	.	.	.	.	.	T	0.03739	0.0106	N	0.12746	0.255	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.40869	-0.9540	9	0.59425	D	0.04	.	8.4154	0.32668	0.0:0.588:0.0:0.412	.	194;192	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	156;194;192;156	ENSP00000378881:Y156C;ENSP00000378882:Y194C;ENSP00000364645:Y192C;ENSP00000364646:Y156C	ENSP00000364646:Y156C	Y	-	2	0	ZNF484	94650315	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-2.311000	0.01128	-0.386000	0.07821	-0.278000	0.10074	TAT	ZNF484	-	NULL	ENSG00000127081		0.358	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	-	0	31	0	T	XM_046861		95610494	-1	tier1	-	no_errors	ENST00000395506	ensembl	human	known	74_37	missense	81.82	6	27	SNP	0.005	C	C	95610494	T	C	95610494	3	2	180	1	0	0	0	0	1	0	0	0	17985	1406	49	4	1987	4	ZNF484	9	95610494	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	3670006	95610494	45602937	125	44784											
PTCH1	5727	genome.wustl.edu	37	chr9	98242361	98242362	+	Frame_Shift_Ins	INS	-	-	A																															caccattcaaaacaagggccINSatatcaagaggctaaaataa																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr9:98242361_98242362insA	ENST00000331920.6	-	7	1255_1256	c.956_957insT	c.(955-957)atgfs	p.M319fs	PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.M253fs|PTCH1_ENST00000430669.2_Frame_Shift_Ins_p.M253fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.M168fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.M168fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.M168fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.M318fs|PTCH1_ENST00000548379.1_5'Flank	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	319					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAACAAGGGCCATATCAAGAGG	0.431																																																	0			GRCh37	CI055020	PTCH1	I																																				SO:0001589	frameshift_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.957dupT	9.37:g.98242362_98242362dupA	ENSP00000332353:p.Met319fs		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Ins	INS	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.M319fs	ENST00000331920.6	37	c.957_956	CCDS6714.1	9																																																																																			PTCH1	-	tigrfam_TM_rcpt_patched	ENSG00000185920		0.431	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2		0	88	0	-	NM_000264		98242362	-1	tier1		no_errors	ENST00000331920	ensembl	human	known	74_37	frame_shift_ins	70.21	14	33	INS	1.000:1.000	A	A	98242362	-	A	98242361	7	5	180	1	0	1	1	0	0	0	0	0	12772	594	21	0	3454	0	PTCH1	9	98242361	Frame_Shift_Ins	INS	-	TCGA-XP-A8T8-01A-11D-A36J-09	2631867	98242361	42971070	126	44785											
TAF3	83860	genome.wustl.edu	37	chr10	8019276	8019276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccgagtcggtgctggcCaagacaagatgtaagtataa	12	9	11	9	2	1	2	0	0	1	2	3	3	1	2	2	2	1	3	2	2	5	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr10:8019276C>A	ENST00000344293.5	+	4	2511	c.2305C>A	c.(2305-2307)Caa>Aaa	p.Q769K		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	769					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						CGGTGCTGGCCAAGACAAGAT	0.423																																																	0													77	78	78					10																	8019276		1857	4095	5952	SO:0001583	missense	0			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.2305C>A	10.37:g.8019276C>A	ENSP00000340271:p.Gln769Lys		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q769K	ENST00000344293.5	37	c.2305	CCDS41487.1	10	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787349	0.70337	.	.	ENSG00000165632	ENST00000344293	T	0.18016	2.24	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000008	T	0.20901	0.0503	M	0.77616	2.38	0.80722	D	1	P	0.36282	0.546	B	0.26416	0.069	T	0.21211	-1.0252	10	0.07644	T	0.81	-31.7616	20.6087	0.99469	0.0:1.0:0.0:0.0	.	769	Q5VWG9	TAF3_HUMAN	K	769	ENSP00000340271:Q769K	ENSP00000340271:Q769K	Q	+	1	0	TAF3	8059282	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.533000	0.73829	2.866000	0.98385	0.650000	0.86243	CAA	TAF3	-	NULL	ENSG00000165632		0.423	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	-	0	85	0	C	NM_031923		8019276	1	tier1	-	no_errors	ENST00000344293	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	A	A	8019276	C	A	8019276	3	1	180	1	0	0	0	0	1	0	0	0	15572	595	21	3	2319	3	TAF3	10	8019276	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09		8019276	127515471	127	44786											
PCDH15	65217	genome.wustl.edu	37	chr10	55955638	55955638	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gcaggaagaggatgaccattGtcttgttcagcctaaaattg	12	11	11	7	0	2	2	1	1	1	1	2	4	2	4	2	2	1	2	2	2	3	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr10:55955638G>T	ENST00000320301.6	-	11	1504	c.1110C>A	c.(1108-1110)gaC>gaA	p.D370E	PCDH15_ENST00000395446.1_Missense_Mutation_p.D370E|PCDH15_ENST00000395445.1_Missense_Mutation_p.D370E|PCDH15_ENST00000437009.1_Missense_Mutation_p.D370E|PCDH15_ENST00000373965.2_Missense_Mutation_p.D370E|PCDH15_ENST00000414778.1_Missense_Mutation_p.D375E|PCDH15_ENST00000395432.2_Missense_Mutation_p.D333E|PCDH15_ENST00000395438.1_Missense_Mutation_p.D370E|PCDH15_ENST00000395430.1_Missense_Mutation_p.D370E|PCDH15_ENST00000373957.3_Missense_Mutation_p.D348E|PCDH15_ENST00000361849.3_Missense_Mutation_p.D370E|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.D370E|PCDH15_ENST00000395433.1_Missense_Mutation_p.D348E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.D370E	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	370	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGACCATTGTCTTGTTCAG	0.343										HNSCC(58;0.16)																																							0													98	96	96					10																	55955638		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1110C>A	10.37:g.55955638G>T	ENSP00000322604:p.Asp370Glu		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D370E	ENST00000320301.6	37	c.1110	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176678	0.57692	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;2.47;1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.17	1.86	0.25419	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.53948	0.1828	M	0.76328	2.33	0.29338	N	0.8662	D;P;P;P;D;P;D;D;D;P;D;D;D;D;P	0.89917	0.996;0.942;0.855;0.768;0.999;0.942;0.996;0.999;0.999;0.719;0.999;0.999;1.0;1.0;0.942	D;P;P;P;D;P;D;D;D;P;D;D;D;D;P	0.91635	0.992;0.684;0.573;0.517;0.997;0.684;0.992;0.986;0.97;0.573;0.986;0.978;0.999;0.997;0.816	T	0.47837	-0.9086	9	0.24483	T	0.36	.	8.9144	0.35572	0.3776:0.0:0.6223:0.0	.	348;370;370;375;370;333;370;370;370;370;370;375;370;348;370	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	E	370;375;370;370;370;370;370;333;370;348;348;370;370;375;370;370	ENSP00000363076:D370E;ENSP00000410304:D375E;ENSP00000378826:D370E;ENSP00000378832:D370E;ENSP00000378833:D370E;ENSP00000378827:D370E;ENSP00000378820:D333E;ENSP00000354950:D370E;ENSP00000378821:D348E;ENSP00000363068:D348E;ENSP00000322604:D370E;ENSP00000378818:D370E;ENSP00000412628:D370E;ENSP00000363066:D370E	ENSP00000322604:D370E	D	-	3	2	PCDH15	55625644	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.652000	0.37313	0.582000	0.29556	0.591000	0.81541	GAC	PCDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150275		0.343	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2		0	55	0	G	NM_033056		55955638	-1			no_errors	ENST00000320301	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	55955638	G	T	55955638	3	4	180	1	0	0	0	0	1	0	0	0	11550	1368	48	3	6493	3	PCDH15	10	55955638	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	47936362	55955638	79579109	128	44787											
DDX50	79009	genome.wustl.edu	37	chr10	70696734	70696734	+	Silent	SNP	A	A	T	1	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	gctgctgttgattttttccgAccatcagctcagagactgat	8	14	9	10	1	2	3	2	2	0	1	3	5	3	3	2	0	2	4	2	0	0	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr10:70696734A>T	ENST00000373585.3	+	12	1745	c.1638A>T	c.(1636-1638)cgA>cgT	p.R546R	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	546						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						ATTTTTTCCGACCATCAGCTC	0.413																																																	0													119	116	117					10																	70696734		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1638A>T	10.37:g.70696734A>T			Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R546	ENST00000373585.3	37	c.1638	CCDS7283.1	10																																																																																			DDX50	-	NULL	ENSG00000107625		0.413	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	-	0	53	0	A	NM_024045		70696734	1	tier1	-	no_errors	ENST00000373585	ensembl	human	known	74_37	silent	13.33	26	4	SNP	1.000	T	T	70696734	A	T	70696734	2	4	180	1	0	0	0	0	0	0	0	1	4377	262	10	5		5	DDX50	10	70696734	Silent	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	14741096	70696734	64838013	129	44788											
PPA1	5464	genome.wustl.edu	37	chr10	71978538	71978538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctccatttttgcattagaCcagcgtggtacttcaactac	10	13	6	12	1	1	1	1	0	0	1	2	1	2	1	3	1	5	2	3	1	4	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr10:71978538C>A	ENST00000373232.3	-	3	258	c.159G>T	c.(157-159)tgG>tgT	p.W53C	PPA1_ENST00000495346.1_5'UTR|PPA1_ENST00000608321.1_Missense_Mutation_p.W53C	NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	53					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						TTGCATTAGACCAGCGTGGTA	0.403																																																	0													103	87	92					10																	71978538		2203	4300	6503	SO:0001583	missense	0			AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"cytosolic inorganic pyrophosphatase", "inorganic pyrophosphatase 1", "pyrophosphate phospho-hydrolase"	179030	"pyrophosphatase (inorganic)"	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.159G>T	10.37:g.71978538C>A	ENSP00000362329:p.Trp53Cys		Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Missense_Mutation	SNP	pfam_Pyrophosphatase,superfamily_Pyrophosphatase	p.W53C	ENST00000373232.3	37	c.159	CCDS7299.1	10	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707987	0.89018	.	.	ENSG00000180817	ENST00000373232;ENST00000373230	T;T	0.46451	0.87;0.87	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.74366	0.3707	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78826	-0.2051	10	0.62326	D	0.03	-3.8237	19.1847	0.93639	0.0:1.0:0.0:0.0	.	53	Q15181	IPYR_HUMAN	C	53	ENSP00000362329:W53C;ENSP00000362327:W53C	ENSP00000362327:W53C	W	-	3	0	PPA1	71648544	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.540000	0.82074	2.882000	0.98803	0.655000	0.94253	TGG	PPA1	-	pfam_Pyrophosphatase,superfamily_Pyrophosphatase	ENSG00000180817		0.403	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPA1	HGNC	protein_coding	OTTHUMT00000048490.2		0	79	0	C	NM_021129		71978538	-1			no_errors	ENST00000373232	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A	A	71978538	C	A	71978538	3	1	180	1	0	0	0	0	1	0	0	0	12325	508	18	3	746	3	PPA1	10	71978538	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	1281804	71978538	63556209	130	44789											
KCNMA1	3778	genome.wustl.edu	37	chr10	78944583	78944583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgttgcacaaacttacccGcaagccgaagtagagaagga	16	6	10	9	2	0	1	0	0	0	1	0	4	0	2	2	1	4	4	2	1	7	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr10:78944583G>A	ENST00000286628.8	-	4	693	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	KCNMA1_ENST00000404771.3_Missense_Mutation_p.R232W|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R232W|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R232W|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R232W|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R232W|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R232W|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R232W	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	232					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)	AAACTTACCCGCAAGCCGAAG	0.458																																																	0													144	130	135					10																	78944583		2203	4300	6503	SO:0001583	missense	0			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.694C>T	10.37:g.78944583G>A	ENSP00000286628:p.Arg232Trp		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.R232W	ENST00000286628.8	37	c.694		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.63|18.63	3.666126|3.666126	0.67700|0.67700	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.98732	.|-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	5.31|5.31	3.45|3.45	0.39498|0.39498	.|Ion transport (1);	.|0.061993	.|0.64402	.|D	.|0.000003	D|D	0.99058|0.99058	0.9677|0.9677	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.996;0.999;1.0;0.999;1.0;1.0	.|P;D;D;D;D;D	.|0.85130	.|0.88;0.993;0.991;0.988;0.997;0.993	D|D	0.99572|0.99572	1.0971|1.0971	5|10	.|0.87932	.|D	.|0	-12.1408|-12.1408	15.3168|15.3168	0.74085|0.74085	0.0:0.0:0.7441:0.2559|0.0:0.0:0.7441:0.2559	.|.	.|232;232;232;232;232;232	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.	V|W	220|232;169;167;206;169;232;232;206;232;232;232;14	.|ENSP00000361517:R232W;ENSP00000361485:R169W;ENSP00000361514:R167W;ENSP00000396608:R206W;ENSP00000361520:R232W;ENSP00000286627:R232W;ENSP00000385552:R232W;ENSP00000346321:R232W;ENSP00000385806:R232W	.|ENSP00000286627:R232W	A|R	-|-	2|1	0|2	KCNMA1|KCNMA1	78614589|78614589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	6.665000|6.665000	0.74442|0.74442	0.877000|0.877000	0.35895|0.35895	-0.127000|-0.127000	0.14921|0.14921	GCG|CGG	KCNMA1	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000156113		0.458	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0	51	0	G	NM_002247		78944583	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A	A	78944583	G	A	78944583	3	1	180	1	0	0	0	0	1	0	0	0	8100	1086	38	1	3288	1	KCNMA1	10	78944583	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	6966045	78944583	56590164	131	44790											
RGR	5995	genome.wustl.edu	37	chr10	86018276	86018276	+	Missense_Mutation	SNP	A	A	G	1	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	cacaacaggtgcccgccctcAttgccaaaatggtgcccacg	10	6	9	16	2	1	0	1	0	0	0	1	0	1	0	4	2	4	0	4	2	3	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr10:86018276A>G	ENST00000359452.4	+	7	807	c.769A>G	c.(769-771)Att>Gtt	p.I257V	RGR_ENST00000358110.5_Missense_Mutation_p.I215V|RGR_ENST00000479725.1_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	253					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						GCCCGCCCTCATTGCCAAAAT	0.562																																					NSCLC(15;204 545 5889 6385 32445)												0													81	76	78					10																	86018276		2203	4300	6503	SO:0001583	missense	0			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.769A>G	10.37:g.86018276A>G	ENSP00000352427:p.Ile257Val		A6NKK7|Q96FC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR,prints_GPCR_Rhodpsn	p.I257V	ENST00000359452.4	37	c.769	CCDS7374.1	10	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297283	0.23650	.	.	ENSG00000148604	ENST00000359452;ENST00000358110	T;T	0.37235	1.21;1.21	4.85	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.162323	0.46758	N	0.000266	T	0.29976	0.0750	L	0.53617	1.68	0.29590	N	0.848502	B;B;B	0.13594	0.003;0.008;0.001	B;B;B	0.17722	0.012;0.019;0.013	T	0.19549	-1.0302	10	0.44086	T	0.13	.	8.0532	0.30589	0.7768:0.0:0.2232:0.0	.	215;257;253	P47804-3;P47804-2;P47804	.;.;RGR_HUMAN	V	257;215	ENSP00000352427:I257V;ENSP00000350823:I215V	ENSP00000350823:I215V	I	+	1	0	RGR	86008256	0.012000	0.17670	0.955000	0.39395	0.934000	0.57294	-0.200000	0.09478	0.092000	0.17331	0.533000	0.62120	ATT	RGR	-	pfscan_GPCR_Rhodpsn_7TM	ENSG00000148604		0.562	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGR	HGNC	protein_coding	OTTHUMT00000049116.1	-	0	79	0	A	NM_002921		86018276	1	tier1	-	no_errors	ENST00000359452	ensembl	human	known	74_37	missense	17.31	43	9	SNP	0.968	G	G	86018276	A	G	86018276	3	3	180	1	0	0	0	0	1	0	0	0	13336	217	8	4	795	4	RGR	10	86018276	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	7073693	86018276	49516471	132	44791											
CCNJ	54619	genome.wustl.edu	37	chr10	97817694	97817694	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcccagccatcacggccagTtcactttcagcaacctcagt	9	9	6	17	1	4	0	4	0	0	0	5	0	5	0	4	1	3	2	4	1	1	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr10:97817694T>A	ENST00000265992.5	+	6	1182	c.815T>A	c.(814-816)gTt>gAt	p.V272D	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.V271D|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.V283D|CCNJ_ENST00000534974.1_Missense_Mutation_p.V272D	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	272						nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		TCACGGCCAGTTCACTTTCAG	0.493																																																	0													237	199	212					10																	97817694		2203	4300	6503	SO:0001583	missense	0			AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.815T>A	10.37:g.97817694T>A	ENSP00000265992:p.Val272Asp		B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.V283D	ENST00000265992.5	37	c.848	CCDS7445.1	10	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059847	0.36373	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.51071	0.72;1.33;0.72	5.5	3.17	0.36434	.	0.840404	0.10723	N	0.641487	T	0.29190	0.0726	N	0.08118	0	0.45733	D	0.998633	B;B;B	0.32781	0.384;0.004;0.003	B;B;B	0.37304	0.246;0.012;0.005	T	0.08827	-1.0703	10	0.72032	D	0.01	-4.2533	4.6747	0.12706	0.0:0.1709:0.1824:0.6467	.	283;271;272	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	D	272;283;271;272	ENSP00000265992:V272D;ENSP00000384498:V271D;ENSP00000441415:V272D	ENSP00000265992:V272D	V	+	2	0	CCNJ	97807684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.068000	0.30629	0.465000	0.27167	-0.250000	0.11733	GTT	CCNJ	-	NULL	ENSG00000107443		0.493	CCNJ-003	KNOWN	basic|CCDS	protein_coding	CCNJ	HGNC	protein_coding	OTTHUMT00000090166.3		0	58	0	T	NM_019084		97817694	1			no_errors	ENST00000465148	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.996	A	A	97817694	T	A	97817694	3	1	180	1	0	0	0	0	1	0	0	0	2935	1725	60	5	866	5	CCNJ	10	97817694	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	11799418	97817694	37717053	133	44792											
PITX3	5309	genome.wustl.edu	37	chr10	103990440	103990442	+	In_Frame_Del	DEL	GCG	GCG	-																															agggggaagaggcggcagccGcggcggcggcggcggccgag																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr10:103990440_103990442delGCG	ENST00000370002.3	-	4	891_893	c.738_740delCGC	c.(736-741)gccgcg>gcg	p.246_247AA>A	PITX3_ENST00000539804.1_In_Frame_Del_p.246_247AA>A	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	246	Poly-Ala.				dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	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)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ggcggcagccgcggcggcggcgg	0.749																																																	0										4,28,3746		1,0,2,1,26,1859						-8.1	0.4			10	5,79,7526		1,0,3,5,69,3727	no	codingComplex	PITX3	NM_005029.3		2,0,5,6,95,5586	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1038,0.847,1.0186				9,107,11272				SO:0001651	inframe_deletion	0				CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"Homeoboxes / PRD class"	9006	protein-coding gene	gene with protein product		602669	"paired-like homeodomain transcription factor 3", "anterior segment mesenchymal dysgenesis"	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.738_740delCGC	10.37:g.103990449_103990451delGCG	ENSP00000359019:p.Ala250del		Q5VZL2	In_Frame_Del	DEL	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom	p.A250in_frame_del	ENST00000370002.3	37	c.740_738	CCDS7532.1	10																																																																																			PITX3	-	pirsf_Homeobox_Pitx/unc30	ENSG00000107859		0.749	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX3	HGNC	protein_coding	OTTHUMT00000050031.1		0	53	0	GCG			103990442	-1	tier1		no_errors	ENST00000370002	ensembl	human	known	74_37	in_frame_del	16.67	15	3	DEL	0.722:0.728:0.588	-	-	103990442	GCG	-	103990440	7	5	180	1	0	1	0	1	0	0	0	0	11995	1087	38	0	172	0	PITX3	10	103990440	In_Frame_Del	DEL	GCG	TCGA-XP-A8T8-01A-11D-A36J-09	6172746	103990440	31544307	134	44793											
CALHM1	255022	genome.wustl.edu	37	chr10	105215358	105215358	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gctttggcgtgctccgtgcaCgtctcgtcgaagagcttgcg	4	11	14	12	6	1	1	0	0	1	1	4	2	2	1	1	1	4	4	1	1	1	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr10:105215358C>T	ENST00000329905.5	-	2	838	c.702G>A	c.(700-702)acG>acA	p.T234T	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	234					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						GCTCCGTGCACGTCTCGTCGA	0.602																																																	0													90	71	77					10																	105215358		2203	4300	6503	SO:0001819	synonymous_variant	0			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.702G>A	10.37:g.105215358C>T			Q5W091	Silent	SNP	NULL	p.T234	ENST00000329905.5	37	c.702	CCDS7550.1	10																																																																																			CALHM1	-	NULL	ENSG00000185933		0.602	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM1	HGNC	protein_coding	OTTHUMT00000050165.1		0	41	0	C	NM_001001412		105215358	-1			no_errors	ENST00000329905	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.681	T	T	105215358	C	T	105215358	2	4	180	1	0	0	0	0	0	0	0	1	2589	523	19	1		1	CALHM1	10	105215358	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	1224918	105215358	30319389	135	44794											
MUC5B	727897	genome.wustl.edu	37	chr11	1269981	1269981	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactacgatcacggccacCggctccaccaccaacccctc	9	4	6	22	3	1	0	1	0	0	0	3	1	2	0	8	2	2	1	8	2	2	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr11:1269981C>T	ENST00000529681.1	+	31	11929	c.11871C>T	c.(11869-11871)acC>acT	p.T3957T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T3960T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3957	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)		tcacggccaccggctccacca	0.612																																																	0													69	98	88					11																	1269981		1888	3837	5725	SO:0001819	synonymous_variant	0			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.11871C>T	11.37:g.1269981C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T3960	ENST00000529681.1	37	c.11880	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	174	0	C	XM_001126093		1269981	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	28.43	73	29	SNP	0.000	T	T	1269981	C	T	1269981	2	4	180	1	0	0	0	0	0	0	0	1	10017	639	23	1		1	MUC5B	11	1269981	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09		1269981	133736535	136	44795											
OR4S2	219431	genome.wustl.edu	37	chr11	55418475	55418475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtggtgttttctttcttCtacataatcattcttctggg	5	22	7	7	0	6	0	1	0	5	0	6	0	6	0	0	2	1	1	0	2	2	9			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr11:55418475C>G	ENST00000312422.2	+	1	96	c.96C>G	c.(94-96)ttC>ttG	p.F32L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTCTTTCTTCTACATAATCA	0.378																																																	0													132	111	118					11																	55418475		2181	4029	6210	SO:0001583	missense	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.96C>G	11.37:g.55418475C>G	ENSP00000310337:p.Phe32Leu		Q6IF72	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F32L	ENST00000312422.2	37	c.96	CCDS31505.1	11	.	.	.	.	.	.	.	.	.	.	C	1.364	-0.587902	0.03799	.	.	ENSG00000174982	ENST00000312422	T	0.00625	6.14	5.36	4.44	0.53790	.	0.000000	0.56097	D	0.000031	T	0.00468	0.0015	N	0.10664	0.02	0.34383	D	0.693343	B	0.21606	0.058	B	0.21917	0.037	T	0.52208	-0.8606	10	0.16896	T	0.51	.	9.5792	0.39477	0.0:0.8348:0.0:0.1652	.	32	Q8NH73	OR4S2_HUMAN	L	32	ENSP00000310337:F32L	ENSP00000310337:F32L	F	+	3	2	OR4S2	55175051	0.000000	0.05858	0.759000	0.31340	0.151000	0.21798	-0.963000	0.03837	1.233000	0.43693	0.549000	0.68633	TTC	OR4S2	-	prints_GPCR_Rhodpsn	ENSG00000174982		0.378	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	-	0	116	0	C	NM_001004059		55418475	1	tier1	-	no_errors	ENST00000312422	ensembl	human	known	74_37	missense	22.86	81	24	SNP	0.992	G	G	55418475	C	G	55418475	3	3	180	1	0	0	0	0	1	0	0	0	11122	912	32	5	98	5	OR4S2	11	55418475	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	54148494	55418475	79588041	137	44796											
FADS2	9415	genome.wustl.edu	37	chr11	61605250	61605250	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactgccctctgctctccagGatgccttccgcgccttccac	4	10	7	20	2	2	0	0	0	2	0	5	1	4	1	6	1	3	1	6	1	0	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr11:61605250G>T	ENST00000278840.4	+	2	838	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	FADS2_ENST00000257261.6_Splice_Site_p.D48Y|FADS2_ENST00000521849.1_Splice_Site_p.D70Y|FADS2_ENST00000522056.1_Splice_Site_p.D39Y	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	70	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TGCTCTCCAGGATGCCTTCCG	0.597																																																	0													63	44	51					11																	61605250		2202	4299	6501	SO:0001630	splice_region_variant	0			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.208-1G>T	11.37:g.61605250G>T			A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd	p.D70Y	ENST00000278840.4	37	c.208	CCDS8012.1	11	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822201	0.71028	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840;ENST00000521849	T;T;T;T	0.80909	1.29;1.55;-1.43;-1.43	4.89	4.89	0.63831	Cytochrome b5 (4);	0.246855	0.34223	N	0.004145	D	0.91774	0.7398	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.79108	0.987;0.992;0.981;0.992	D	0.93352	0.6719	9	.	.	.	-18.5909	17.8614	0.88783	0.0:0.0:1.0:0.0	.	39;70;70;48	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	Y	48;39;70;70	ENSP00000257261:D48Y;ENSP00000429500:D39Y;ENSP00000278840:D70Y;ENSP00000431091:D70Y	.	D	+	1	0	FADS2	61361826	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	8.803000	0.91915	2.534000	0.85438	0.655000	0.94253	GAT	FADS2	-	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd	ENSG00000134824		0.597	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS2	HGNC	protein_coding	OTTHUMT00000375586.2		0	87	0	G	NM_004265	Missense_Mutation	61605250	1			no_errors	ENST00000278840	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	61605250	G	T	61605250	5	4	180	1	0	0	0	0	0	0	1	0	5385	1188	41	3	214	3	FADS2	11	61605250	Splice_Site	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	6186775	61605250	73401266	138	44797											
CHRM1	1128	genome.wustl.edu	37	chr11	62677638	62677638	+	Missense_Mutation	SNP	T	T	C	0	1	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	ggggctgcttggtgggggccTgtgcctcggggtccaccatt	2	10	18	11	1	0	0	0	0	0	0	2	0	1	0	4	7	2	2	4	7	0	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr11:62677638T>C	ENST00000306960.3	-	2	1476	c.935A>G	c.(934-936)cAg>cGg	p.Q312R	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	312					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)	GGTGGGGGCCTGTGCCTCGGG	0.617																																																	0													61	68	65					11																	62677638		2201	4298	6499	SO:0001583	missense	0			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.935A>G	11.37:g.62677638T>C	ENSP00000306490:p.Gln312Arg		Q96RH1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.Q312R	ENST00000306960.3	37	c.935	CCDS8040.1	11	.	.	.	.	.	.	.	.	.	.	T	0.109	-1.141493	0.01728	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.59083	0.33;0.29	4.79	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	1.294700	0.05594	N	0.575139	T	0.34454	0.0898	N	0.08118	0	0.24075	N	0.995967	B	0.14438	0.01	B	0.17433	0.018	T	0.26189	-1.0110	10	0.15066	T	0.55	-9.6435	5.3448	0.16004	0.0:0.0919:0.3509:0.5572	.	312	P11229	ACM1_HUMAN	R	312	ENSP00000306490:Q312R;ENSP00000441188:Q312R	ENSP00000306490:Q312R	Q	-	2	0	CHRM1	62434214	0.000000	0.05858	0.982000	0.44146	0.151000	0.21798	-1.012000	0.03649	0.833000	0.34828	0.460000	0.39030	CAG	CHRM1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt	ENSG00000168539		0.617	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM1	HGNC	protein_coding	OTTHUMT00000396178.1		0	22	0	T	NM_000738		62677638	-1			no_errors	ENST00000306960	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.575	C	C	62677638	T	C	62677638	3	2	180	1	0	0	0	0	1	0	0	0	3383	1580	55	4	451	4	CHRM1	11	62677638	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	1072388	62677638	72328878	139	44798											
MRPL11	65003	genome.wustl.edu	37	chr11	66204663	66204663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacatcctgcagggcaaatgCctcatcctgagctttgatgc	9	11	9	12	0	1	2	1	2	0	0	3	2	3	2	3	1	5	3	3	1	2	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr11:66204663C>T	ENST00000310999.7	-	4	478	c.385G>A	c.(385-387)Gca>Aca	p.A129T	MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000430466.2_Missense_Mutation_p.A103T|MRPL11_ENST00000329819.4_Missense_Mutation_p.A129T	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	129					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						AGGGCAAATGCCTCATCCTGA	0.557																																																	0													112	103	106					11																	66204663		2200	4295	6495	SO:0001583	missense	0			AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"Mitochondrial ribosomal proteins / large subunits"	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.385G>A	11.37:g.66204663C>T	ENSP00000308897:p.Ala129Thr		A6NLT0|A8K219|Q32P46|Q96Q73	Missense_Mutation	SNP	pfam_Ribosomal_L11_N,pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_N,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11,tigrfam_Ribosomal_L11_bac-typ	p.A129T	ENST00000310999.7	37	c.385	CCDS8139.1	11	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877503	0.33162	.	.	ENSG00000174547	ENST00000310999;ENST00000430466;ENST00000528272;ENST00000329819	.	.	.	5.79	5.79	0.91817	Ribosomal protein L11, C-terminal (3);	0.225081	0.46145	D	0.000307	T	0.60547	0.2277	L	0.31752	0.955	0.40171	D	0.977179	B;B;B	0.26363	0.147;0.097;0.097	B;B;B	0.39217	0.137;0.216;0.294	T	0.59989	-0.7350	9	0.49607	T	0.09	-15.5521	17.5412	0.87848	0.0:1.0:0.0:0.0	.	103;129;129	Q9Y3B7-2;Q9Y3B7;A6NLT0	.;RM11_HUMAN;.	T	129;103;11;129	.	ENSP00000308897:A129T	A	-	1	0	MRPL11	65961239	0.984000	0.35163	0.883000	0.34634	0.172000	0.22775	2.603000	0.46266	2.722000	0.93159	0.655000	0.94253	GCA	MRPL11	-	pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11,tigrfam_Ribosomal_L11_bac-typ	ENSG00000174547		0.557	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL11	HGNC	protein_coding	OTTHUMT00000393098.2		0	79	0	C	NM_016050		66204663	-1			no_errors	ENST00000310999	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.993	T	T	66204663	C	T	66204663	3	4	180	1	0	0	0	0	1	0	0	0	9814	739	26	3	278	3	MRPL11	11	66204663	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	3527025	66204663	68801853	140	44799											
PELI3	246330	genome.wustl.edu	37	chr11	66239874	66239874	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcagcacagcatctcgtAtacactgtcccggagccact	9	9	9	14	2	2	0	1	0	1	0	4	1	3	1	2	2	4	3	2	2	2	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr11:66239874A>C	ENST00000320740.7	+	5	549	c.389A>C	c.(388-390)tAt>tCt	p.Y130S	PELI3_ENST00000524466.1_Missense_Mutation_p.Y130S|PELI3_ENST00000349459.6_Missense_Mutation_p.Y106S|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000533502.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	130					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						AGCATCTCGTATACACTGTCC	0.537																																																	0													207	156	173					11																	66239874		2200	4295	6495	SO:0001583	missense	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.389A>C	11.37:g.66239874A>C	ENSP00000322532:p.Tyr130Ser		Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	pfam_Pellino_fam	p.Y130S	ENST00000320740.7	37	c.389	CCDS31615.1	11	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145919	0.77888	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000526296	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.42	3.0	0.34707	.	0.072085	0.56097	D	0.000021	T	0.69637	0.3133	M	0.82323	2.585	0.51012	D	0.999908	D;D;D	0.69078	0.99;0.997;0.995	P;D;D	0.69479	0.897;0.964;0.925	T	0.69143	-0.5223	10	0.54805	T	0.06	-22.7232	9.2816	0.37731	0.7144:0.0:0.0:0.2856	.	106;130;130	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	S	106;130;130;23	ENSP00000309848:Y106S;ENSP00000322532:Y130S;ENSP00000434677:Y130S;ENSP00000436722:Y23S	ENSP00000322532:Y130S	Y	+	2	0	PELI3	65996450	1.000000	0.71417	0.873000	0.34254	0.863000	0.49368	5.096000	0.64535	0.437000	0.26423	0.460000	0.39030	TAT	PELI3	-	pfam_Pellino_fam	ENSG00000174516		0.537	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	-	0	56	0	A	NM_145065		66239874	1	tier1	-	no_errors	ENST00000320740	ensembl	human	known	74_37	missense	28.99	49	20	SNP	1.000	C	C	66239874	A	C	66239874	3	2	180	1	0	0	0	0	1	0	0	0	11762	449	16	4	403	4	PELI3	11	66239874	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	35211	66239874	68766642	141	44800											
EED	8726	genome.wustl.edu	37	chr11	85966330	85966330	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcttacgtggatgctgatGtatcctttcctgggttttta	7	18	9	7	1	1	1	0	1	1	0	3	2	3	2	2	2	2	3	2	2	4	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr11:85966330G>T	ENST00000263360.6	+	4	1112		c.e4+1		EED_ENST00000351625.6_Splice_Site|EED_ENST00000327320.4_Splice_Site|EED_ENST00000528180.1_Splice_Site	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development						negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGATGCTGATGTATCCTTTCC	0.299																																																	0													99	90	93					11																	85966330		2202	4297	6499	SO:0001630	splice_region_variant	0			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.426+1G>T	11.37:g.85966330G>T			A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Splice_Site	SNP	-	e4+1	ENST00000263360.6	37	c.426+1	CCDS8273.1	11	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531260	0.85706	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000537092	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2736	0.94021	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EED	85643978	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.298000	0.96132	2.563000	0.86464	0.467000	0.42956	.	EED	-	-	ENSG00000074266		0.299	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EED	HGNC	protein_coding	OTTHUMT00000393733.1	-	0	85	0	G	NM_003797	Intron	85966330	1	tier1	-	no_errors	ENST00000263360	ensembl	human	known	74_37	splice_site	7.02	53	4	SNP	1.000	T	T	85966330	G	T	85966330	5	4	180	1	0	0	0	0	0	0	1	0	4936	1391	48	3	441	3	EED	11	85966330	Splice_Site	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	19726456	85966330	49040186	142	44801											
CASP1	834	genome.wustl.edu	37	chr11	104897032	104897032	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtcaaagtcactctttCagtggtgggcatctgcgctc	6	14	10	11	1	6	0	3	0	3	0	7	0	6	0	0	2	1	2	0	2	1	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr11:104897032C>A	ENST00000533400.1	-	9	1203	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	CASP1_ENST00000393136.4_Nonsense_Mutation_p.E369*|CASP1_ENST00000594519.1_Nonsense_Mutation_p.E249*|CASP1_ENST00000353247.5_Nonsense_Mutation_p.E74*|CASP1_ENST00000534497.1_Nonsense_Mutation_p.E249*|CASP1_ENST00000526568.1_Nonsense_Mutation_p.E297*|CASP1_ENST00000525825.1_Nonsense_Mutation_p.E369*|CASP1_ENST00000531166.1_Nonsense_Mutation_p.E74*|CASP1_ENST00000446369.1_Nonsense_Mutation_p.E249*|CASP1_ENST00000598974.1_Nonsense_Mutation_p.E390*|CASP1_ENST00000593315.1_Nonsense_Mutation_p.E369*|CASP1_ENST00000415981.2_Nonsense_Mutation_p.E74*|CASP1_ENST00000436863.3_Nonsense_Mutation_p.E390*|CASP1_ENST00000527979.1_Nonsense_Mutation_p.E353*	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	390					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	GTCACTCTTTCAGTGGTGGGC	0.423																																					NSCLC(41;1246 1743 4934)												0													93	91	92					11																	104897032		2202	4299	6501	SO:0001587	stop_gained	0			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1168G>T	11.37:g.104897032C>A	ENSP00000433138:p.Glu390*		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Nonsense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.E390*	ENST00000533400.1	37	c.1168	CCDS8330.1	11	.	.	.	.	.	.	.	.	.	.	.	12.13	1.845000	0.32606	.	.	ENSG00000137752	ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	.	.	.	4.2	4.2	0.49525	.	0.161086	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.4387	0.67301	0.0:1.0:0.0:0.0	.	.	.	.	X	297;353;390;390;74;249;74;369;369;74;249	.	ENSP00000344132:E74X	E	-	1	0	CASP1	104402242	1.000000	0.71417	0.864000	0.33941	0.111000	0.19643	5.967000	0.70403	2.322000	0.78497	0.460000	0.39030	GAA	CASP1	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_p10	ENSG00000137752		0.423	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1		0	71	0	C	NM_033292		104897032	-1			no_errors	ENST00000436863	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.995	A	A	104897032	C	A	104897032	4	1	180	1	0	0	0	0	0	1	0	0	2675	835	29	3	50	3	CASP1	11	104897032	Nonsense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	18930702	104897032	30109484	143	44802											
ALG9	79796	genome.wustl.edu	37	chr11	111708222	111708222	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagctgctgggaaatcGataccactcttttcccacac	12	9	8	12	1	1	0	0	0	1	0	3	3	2	2	2	2	3	2	2	2	4	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr11:111708222G>T	ENST00000531154.1	-	12	1400	c.928C>A	c.(928-930)Cga>Aga	p.R310R	ALG9_ENST00000398006.2_Silent_p.R303R|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	474					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)	p.R310R(1)|p.R706R(1)|p.R707R(1)		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)		CTGGGAAATCGATACCACTCT	0.418																																																	3	Substitution - coding silent(3)	endometrium(3)											110	110	110					11																	111708222		1876	4108	5984	SO:0001819	synonymous_variant	0				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.928C>A	11.37:g.111708222G>T			Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Silent	SNP	pfam_GPI_mannosylTrfase	p.R310	ENST00000531154.1	37	c.928	CCDS41714.1	11																																																																																			ALG9	-	pfam_GPI_mannosylTrfase	ENSG00000086848		0.418	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALG9	HGNC	protein_coding	OTTHUMT00000391485.1		0	66	0	G	NM_024740		111708222	-1			no_errors	ENST00000531154	ensembl	human	known	74_37	silent	5.45	52	3	SNP	1.000	T	T	111708222	G	T	111708222	2	4	180	1	0	0	0	0	0	0	0	1	524	1066	37	2		2	ALG9	11	111708222	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	6811190	111708222	23298294	144	44803											
MLL	4297	genome.wustl.edu	37	chr11	118353187	118353187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccccgcccaagtatccctGtaaaacaaaaaccaaaagaa	18	5	4	14	1	0	1	0	0	0	1	2	1	2	1	5	0	2	2	5	0	9	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr11:118353187G>T	ENST00000389506.5	+	8	4063	c.4063G>T	c.(4063-4065)Gta>Tta	p.V1355L	KMT2A_ENST00000420751.2_Intron|KMT2A_ENST00000534358.1_Missense_Mutation_p.V1355L|KMT2A_ENST00000354520.4_Missense_Mutation_p.V1355L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1355					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)										AAGTATCCCTGTAAAACAAAA	0.403																																																	0													47	47	47					11																	118353187		2200	4296	6496	SO:0001583	missense	0			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.4063G>T	11.37:g.118353187G>T	ENSP00000374157:p.Val1355Leu		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.V1355L	ENST00000389506.5	37	c.4063	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	13.91	2.379449	0.42207	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	T;T;T;T;D	0.90324	-1.43;2.38;-1.43;-1.4;-2.65	5.56	5.56	0.83823	.	0.213040	0.41938	D	0.000795	D	0.83110	0.5183	L	0.31207	0.915	0.33261	D	0.559687	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.76410	-0.2969	10	0.06236	T	0.91	.	14.709	0.69215	0.0:0.1448:0.8552:0.0	.	1355;1355	E9PQG7;Q03164	.;MLL1_HUMAN	L	1355;1388;1355;1355;265;105	ENSP00000436786:V1355L;ENSP00000432391:V1388L;ENSP00000374157:V1355L;ENSP00000346516:V1355L;ENSP00000376612:V105L	ENSP00000346516:V1355L	V	+	1	0	MLL	117858397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.432000	0.44784	2.620000	0.88729	0.563000	0.77884	GTA	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.403	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	76	0	G	NM_005933		118353187	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	118353187	G	T	118353187	3	4	180	1	0	0	0	0	1	0	0	0	9658	1377	48	3	4093	3	MLL	11	118353187	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	6644965	118353187	16653329	145	44804											
EI24	9538	genome.wustl.edu	37	chr11	125448944	125448944	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttcaaccttttgctgCaggctcttttcctcattcag	5	17	6	13	0	5	0	3	0	2	0	6	0	6	0	2	1	4	4	2	1	1	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr11:125448944C>T	ENST00000278903.6	+	7	783	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Nonsense_Mutation_p.Q181*	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	181					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		CCTTTTGCTGCAGGCTCTTTT	0.443																																																	0													69	58	61					11																	125448944		1863	4104	5967	SO:0001587	stop_gained	0			AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 4 homolog (C. elegans)"	605170	"etoposide induced 2.4 mRNA"			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.541C>T	11.37:g.125448944C>T	ENSP00000278903:p.Gln181*		A8K7D6|B4DKL6|Q9BUQ1	Nonsense_Mutation	SNP	NULL	p.Q181*	ENST00000278903.6	37	c.541		11	.	.	.	.	.	.	.	.	.	.	C	36	5.851730	0.97023	.	.	ENSG00000149547	ENST00000278903;ENST00000343678;ENST00000527842	.	.	.	5.25	5.25	0.73442	.	0.051386	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-25.7297	17.009	0.86400	0.0:1.0:0.0:0.0	.	.	.	.	X	181	.	ENSP00000278903:Q181X	Q	+	1	0	EI24	124954154	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.210000	0.77924	2.615000	0.88500	0.650000	0.86243	CAG	EI24	-	NULL	ENSG00000149547		0.443	EI24-201	KNOWN	basic|appris_principal	protein_coding	EI24	HGNC	protein_coding		-	0	61	0	C	NM_004879		125448944	1	tier1	-	no_errors	ENST00000278903	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	T	T	125448944	C	T	125448944	4	4	180	1	0	0	0	0	0	1	0	0	4999	711	25	3	563	3	EI24	11	125448944	Nonsense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	7095757	125448944	9557572	146	44805											
KDM5A	5927	genome.wustl.edu	37	chr12	438067	438067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaattctttgcagacCatggcagccagccccacatc	11	8	8	14	0	2	2	1	0	1	2	3	2	2	2	4	1	3	2	4	1	1	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:438067C>T	ENST00000399788.2	-	14	2264	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	KDM5A_ENST00000382815.4_Missense_Mutation_p.M634I	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	634					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						CTTTGCAGACCATGGCAGCCA	0.443			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													103	97	99					12																	438067		1945	4152	6097	SO:0001583	missense	0				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.1902G>A	12.37:g.438067C>T	ENSP00000382688:p.Met634Ile		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.M634I	ENST00000399788.2	37	c.1902	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347926	0.41599	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	T;T;T	0.70164	-0.46;-0.46;-0.46	5.27	4.37	0.52481	.	0.164014	0.64402	D	0.000017	T	0.42944	0.1225	N	0.03608	-0.345	0.36347	D	0.859843	B;B;B;B	0.25105	0.118;0.005;0.006;0.108	B;B;B;B	0.28385	0.016;0.017;0.017;0.089	T	0.51348	-0.8717	10	0.66056	D	0.02	-18.2113	9.0003	0.36077	0.1489:0.7772:0.0:0.0739	.	253;634;634;634	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	I	253;593;634;634;253	ENSP00000382688:M634I;ENSP00000372265:M634I;ENSP00000440622:M253I	ENSP00000261253:M253I	M	-	3	0	KDM5A	308328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.732000	0.38146	1.338000	0.45544	0.462000	0.41574	ATG	KDM5A	-	NULL	ENSG00000073614		0.443	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1		0	61	0	C	NM_005056		438067	-1			no_errors	ENST00000399788	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	438067	C	T	438067	3	4	180	1	0	0	0	0	1	0	0	0	8160	594	21	3	3230	3	KDM5A	12	438067	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09		438067	133413828	147	44806											
C1R	715	genome.wustl.edu	37	chr12	7242681	7242681	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagtaggccaggaagcccTtgtagaacatgatggtccca	11	8	13	9	0	0	2	0	1	0	1	1	3	1	3	3	4	2	3	3	4	5	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:7242681T>A	ENST00000542285.1	-	3	541	c.392A>T	c.(391-393)aAg>aTg	p.K131M	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	132	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.		Y -> H. {ECO:0000269|PubMed:12914573}.		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)	CAGGAAGCCCTTGTAGAACAT	0.532																																																	0													55	55	55					12																	7242681		1936	4138	6074	SO:0001583	missense	0			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.392A>T	12.37:g.7242681T>A	ENSP00000438615:p.Lys131Met		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	p.K132M	ENST00000542285.1	37	c.395		12	.	.	.	.	.	.	.	.	.	.	T	19.93	3.917552	0.73098	.	.	ENSG00000159403	ENST00000542220;ENST00000536053;ENST00000535233;ENST00000290575;ENST00000542285;ENST00000540610;ENST00000543835;ENST00000541042;ENST00000540242;ENST00000538050	T;T;T;T;T;T	0.36699	1.51;1.24;1.24;1.24;1.51;1.24	5.43	5.43	0.79202	CUB (4);	0.076107	0.53938	D	0.000051	T	0.56992	0.2023	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.71656	0.974;0.968;0.827	T	0.61377	-0.7075	9	0.72032	D	0.01	.	10.2365	0.43286	0.0:0.0835:0.0:0.9165	.	98;146;132	F5H2D0;B4DPQ0;P00736	.;.;C1R_HUMAN	M	132;146;98;146;131;27;107;27;132;27	ENSP00000438615:K131M;ENSP00000439223:K27M;ENSP00000445285:K107M;ENSP00000441601:K27M;ENSP00000442946:K132M;ENSP00000444009:K27M	ENSP00000290575:K146M	K	-	2	0	C1R	7133822	0.803000	0.28956	1.000000	0.80357	0.991000	0.79684	0.548000	0.23314	2.059000	0.61396	0.379000	0.24179	AAG	C1R	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000159403		0.532	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	C1R	HGNC	protein_coding		-	0	91	0	T	NM_001733		7242681	-1	tier1	-	no_errors	ENST00000543362	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	A	A	7242681	T	A	7242681	3	1	180	1	0	0	0	0	1	0	0	0	1979	1609	56	5	1437	5	C1R	12	7242681	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	6804614	7242681	126609214	148	44807											
CLEC7A	64581	genome.wustl.edu	37	chr12	10271066	10271066	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacccttcctcttacattgaAaacttcttctcacaaatact	12	14	1	14	0	3	1	1	1	3	0	5	1	4	1	2	0	3	0	2	0	5	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:10271066A>C	ENST00000304084.8	-	6	889	c.735T>G	c.(733-735)ttT>ttG	p.F245L	CLEC7A_ENST00000298523.5_3'UTR|CLEC7A_ENST00000533022.1_3'UTR|CLEC7A_ENST00000353231.5_Missense_Mutation_p.F199L|CLEC7A_ENST00000396484.2_Missense_Mutation_p.F166L	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	245					carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CTTACATTGAAAACTTCTTCT	0.403																																																	0													133	126	128					12																	10271066		2203	4300	6503	SO:0001583	missense	0			AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"C-type lectin domain containing"	14558	protein-coding gene	gene with protein product		606264	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.735T>G	12.37:g.10271066A>C	ENSP00000302569:p.Phe245Leu		B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.F245L	ENST00000304084.8	37	c.735	CCDS41753.1	12	.	.	.	.	.	.	.	.	.	.	A	3.567	-0.088415	0.07097	.	.	ENSG00000172243	ENST00000353231;ENST00000396484;ENST00000304084	T;T;T	0.15372	2.43;2.43;2.43	3.84	0.745	0.18359	C-type lectin fold (1);	0.861579	0.09499	N	0.793927	T	0.05318	0.0141	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.40664	-0.9551	10	0.02654	T	1	.	6.0158	0.19603	0.4679:0.3783:0.1537:0.0	.	166;245;199	Q9BXN2-5;Q9BXN2;Q9BXN2-2	.;CLC7A_HUMAN;.	L	199;166;245	ENSP00000266456:F199L;ENSP00000379743:F166L;ENSP00000302569:F245L	ENSP00000302569:F245L	F	-	3	2	CLEC7A	10162333	0.000000	0.05858	0.004000	0.12327	0.552000	0.35366	-0.977000	0.03782	0.145000	0.18977	0.528000	0.53228	TTT	CLEC7A	-	superfamily_C-type_lectin_fold	ENSG00000172243		0.403	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC7A	HGNC	protein_coding	OTTHUMT00000390772.1	-	0	84	0	A	NM_197954		10271066	-1	tier1	-	no_errors	ENST00000304084	ensembl	human	known	74_37	missense	20.00	40	10	SNP	0.005	C	C	10271066	A	C	10271066	3	2	180	1	0	0	0	0	1	0	0	0	3528	11	1	4	12	4	CLEC7A	12	10271066	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	3028385	10271066	123580829	149	44808											
DDX47	51202	genome.wustl.edu	37	chr12	12974243	12974243	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agaccccgcagcgtttgtttGccctagttcttaccccgact	6	12	8	15	3	1	1	0	0	1	1	1	2	1	1	5	0	3	4	5	0	2	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:12974243G>T	ENST00000358007.3	+	3	305	c.283G>T	c.(283-285)Gcc>Tcc	p.A95S	DDX47_ENST00000352940.4_Missense_Mutation_p.A95S|DDX47_ENST00000392155.2_3'UTR	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	95	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GCGTTTGTTTGCCCTAGTTCT	0.537																																																	0													143	141	142					12																	12974243		2203	4300	6503	SO:0001583	missense	0			AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.283G>T	12.37:g.12974243G>T	ENSP00000350698:p.Ala95Ser		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A95S	ENST00000358007.3	37	c.283	CCDS8655.1	12	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835294	0.71373	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.19669	2.13;2.13	5.6	5.6	0.85130	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.175925	0.49305	D	0.000141	T	0.42743	0.1216	M	0.78637	2.42	0.58432	D	0.999999	B;B;B;B	0.30634	0.023;0.162;0.063;0.288	B;B;B;B	0.44278	0.445;0.38;0.243;0.38	T	0.35301	-0.9794	10	0.62326	D	0.03	-7.1476	19.616	0.95634	0.0:0.0:1.0:0.0	.	95;95;95;95	B4DYP6;Q9H4E3;G5E955;Q9H0S4	.;.;.;DDX47_HUMAN	S	95	ENSP00000319578:A95S;ENSP00000350698:A95S	ENSP00000319578:A95S	A	+	1	0	DDX47	12865510	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.978000	0.76147	2.642000	0.89623	0.555000	0.69702	GCC	DDX47	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000213782		0.537	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX47	HGNC	protein_coding	OTTHUMT00000400674.1	-	0	86	0	G	NM_016355		12974243	1	tier1	-	no_errors	ENST00000358007	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	12974243	G	T	12974243	3	4	180	1	0	0	0	0	1	0	0	0	4374	1319	46	3	293	3	DDX47	12	12974243	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	2703177	12974243	120877652	150	44809											
AEBP2	121536	genome.wustl.edu	37	chr12	19626251	19626251	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtcaaagttggttacaaAggcatatgctgacacacagt	14	9	9	9	0	1	1	1	1	0	0	1	1	1	1	1	2	2	4	1	2	4	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:19626251A>G	ENST00000398864.3	+	3	975	c.949A>G	c.(949-951)Agg>Ggg	p.R317G	AEBP2_ENST00000266508.9_Missense_Mutation_p.R317G|AEBP2_ENST00000360995.4_Missense_Mutation_p.R101G|AEBP2_ENST00000541908.1_Missense_Mutation_p.R88G	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	317					chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TTGGTTACAAAGGCATATGCT	0.269																																																	0													69	65	66					12																	19626251		1861	4118	5979	SO:0001583	missense	0				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.949A>G	12.37:g.19626251A>G	ENSP00000381840:p.Arg317Gly		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R317G	ENST00000398864.3	37	c.949	CCDS44841.1	12	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661347	0.67700	.	.	ENSG00000139154	ENST00000538425;ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96	5.18	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.96024	0.8705	L	0.31120	0.905	0.50171	D	0.999857	D	0.69078	0.997	D	0.80764	0.994	D	0.95588	0.8652	9	0.62326	D	0.03	-10.0927	11.27	0.49133	0.6991:0.3009:0.0:0.0	.	317	Q6ZN18	AEBP2_HUMAN	G	88;88;317;251;317;101	ENSP00000444255:R88G;ENSP00000437983:R88G;ENSP00000381840:R317G;ENSP00000266508:R317G;ENSP00000354267:R101G	ENSP00000266508:R317G	R	+	1	2	AEBP2	19517518	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.217000	0.58547	0.975000	0.38392	0.454000	0.30748	AGG	AEBP2	-	smart_Znf_C2H2-like	ENSG00000139154		0.269	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AEBP2	HGNC	protein_coding	OTTHUMT00000401575.1	-	0	81	0	A	NM_153207		19626251	1	tier1	-	no_errors	ENST00000398864	ensembl	human	known	74_37	missense	45.31	35	29	SNP	1.000	G	G	19626251	A	G	19626251	3	3	180	1	0	0	0	0	1	0	0	0	350	63	3	4	959	4	AEBP2	12	19626251	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	6652008	19626251	114225644	151	44810											
ITPR2	3709	genome.wustl.edu	37	chr12	26639167	26639167	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	tgtttcccgcttctggtcctGtgcacataatgtctatttct	5	18	7	11	1	3	0	0	0	3	0	5	0	5	0	2	1	1	3	2	1	2	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:26639167G>T	ENST00000381340.3	-	41	6097	c.5681C>A	c.(5680-5682)aCa>aAa	p.T1894K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1894					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)	TTCTGGTCCTGTGCACATAAT	0.423																																																	0													243	230	234					12																	26639167		1910	4124	6034	SO:0001583	missense	0			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.5681C>A	12.37:g.26639167G>T	ENSP00000370744:p.Thr1894Lys		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.T1894K	ENST00000381340.3	37	c.5681	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	G	6.606	0.480138	0.12581	.	.	ENSG00000123104	ENST00000381340	D	0.91237	-2.81	5.07	4.14	0.48551	.	0.839775	0.11044	N	0.605760	T	0.82006	0.4943	N	0.19112	0.55	0.23903	N	0.996512	B	0.13594	0.008	B	0.09377	0.004	T	0.60281	-0.7294	10	0.06099	T	0.92	.	14.2754	0.66177	0.0:0.2753:0.7247:0.0	.	1894	Q14571	ITPR2_HUMAN	K	1894	ENSP00000370744:T1894K	ENSP00000370744:T1894K	T	-	2	0	ITPR2	26530434	0.111000	0.22076	0.029000	0.17559	0.885000	0.51271	2.641000	0.46587	2.627000	0.88993	0.655000	0.94253	ACA	ITPR2	-	superfamily_ARM-type_fold	ENSG00000123104		0.423	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1		0	74	0	G	NM_002223		26639167	-1			no_errors	ENST00000381340	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.155	T	T	26639167	G	T	26639167	3	4	180	1	0	0	0	0	1	0	0	0	7948	1377	48	3	2492	3	ITPR2	12	26639167	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	7012916	26639167	107212728	152	44811											
TM7SF3	51768	genome.wustl.edu	37	chr12	27133537	27133537	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtcttgtaatcagtataTaaaagaagaatcccatgatg	16	12	7	6	0	3	3	2	1	1	2	4	3	4	3	1	0	0	2	1	0	7	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:27133537T>A	ENST00000343028.4	-	8	1223	c.998A>T	c.(997-999)tAt>tTt	p.Y333F	RP11-421F16.3_ENST00000500632.1_RNA|TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	333						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AATCAGTATATAAAAGAAGAA	0.343																																																	0													81	82	81					12																	27133537		2202	4299	6501	SO:0001583	missense	0			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.998A>T	12.37:g.27133537T>A	ENSP00000342322:p.Tyr333Phe		B3KMZ3|Q9NUS4	Missense_Mutation	SNP	NULL	p.Y333F	ENST00000343028.4	37	c.998	CCDS8710.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.880|8.880	0.951290|0.951290	0.18431|0.18431	.|.	.|.	ENSG00000064115|ENSG00000064115	ENST00000545303|ENST00000343028;ENST00000545344;ENST00000537406;ENST00000543655;ENST00000535819	.|T;T;T	.|0.43688	.|1.51;0.94;0.94	5.09|5.09	3.86|3.86	0.44501|0.44501	.|.	.|0.051586	.|0.85682	.|D	.|0.000000	T|T	0.20981|0.20981	0.0505|0.0505	N|N	0.17082|0.17082	0.46|0.46	0.31869|0.31869	N|N	0.619949|0.619949	.|B	.|0.12013	.|0.005	.|B	.|0.15484	.|0.013	T|T	0.19549|0.19549	-1.0302|-1.0302	5|10	.|0.06236	.|T	.|0.91	-17.5044|-17.5044	8.4685|8.4685	0.32971|0.32971	0.3514:0.0:0.0:0.6486|0.3514:0.0:0.0:0.6486	.|.	.|333	.|Q9NS93	.|TM7S3_HUMAN	L|F	114|333;47;2;124;124	.|ENSP00000342322:Y333F;ENSP00000441924:Y124F;ENSP00000445156:Y124F	.|ENSP00000342322:Y333F	I|Y	-|-	1|2	0|0	TM7SF3|TM7SF3	27024804|27024804	0.998000|0.998000	0.40836|0.40836	0.900000|0.900000	0.35374|0.35374	0.866000|0.866000	0.49608|0.49608	2.590000|2.590000	0.46154|0.46154	2.048000|2.048000	0.60808|0.60808	0.482000|0.482000	0.46254|0.46254	ATA|TAT	TM7SF3	-	NULL	ENSG00000064115		0.343	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1	-	0	65	0	T	NM_016551		27133537	-1	tier1	-	no_errors	ENST00000343028	ensembl	human	known	74_37	missense	41.67	21	15	SNP	0.970	A	A	27133537	T	A	27133537	3	1	180	1	0	0	0	0	1	0	0	0	16022	1406	49	5	734	5	TM7SF3	12	27133537	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	494370	27133537	106718358	153	44812											
DNM1L	10059	genome.wustl.edu	37	chr12	32884819	32884819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttcctaaacttcatgatgCcatagttgaagtggtgactt	11	15	8	7	0	1	3	1	3	0	0	2	3	2	3	2	1	2	1	2	1	4	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:32884819C>T	ENST00000549701.1	+	12	1462	c.1388C>T	c.(1387-1389)gCc>gTc	p.A463V	DNM1L_ENST00000547312.1_Missense_Mutation_p.A463V|DNM1L_ENST00000553257.1_Missense_Mutation_p.A476V|DNM1L_ENST00000452533.2_Missense_Mutation_p.A463V|DNM1L_ENST00000381000.4_Missense_Mutation_p.A476V|DNM1L_ENST00000358214.5_Missense_Mutation_p.A476V|DNM1L_ENST00000266481.6_Missense_Mutation_p.A463V|DNM1L_ENST00000414834.2_Missense_Mutation_p.A260V|YARS2_ENST00000551673.1_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	463	Interaction with GSK3B.|Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTCATGATGCCATAGTTGAA	0.318																																																	0													176	156	163					12																	32884819		2203	4300	6503	SO:0001583	missense	0			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1388C>T	12.37:g.32884819C>T	ENSP00000450399:p.Ala463Val		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.A476V	ENST00000549701.1	37	c.1427	CCDS8729.1	12	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453437	0.84209	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.07	5.07	0.68467	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.71871	2.18	0.80722	D	1	P;B;B;B;B;B	0.42584	0.784;0.302;0.302;0.382;0.152;0.146	P;B;B;B;B;B	0.51657	0.676;0.315;0.41;0.149;0.158;0.297	D	0.84597	0.0670	10	0.72032	D	0.01	.	18.8176	0.92084	0.0:1.0:0.0:0.0	.	260;516;516;529;516;463	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	V	463;529;463;476;463;476;463;463;260;476	ENSP00000415131:A463V;ENSP00000449089:A476V;ENSP00000450399:A463V;ENSP00000350948:A476V;ENSP00000266481:A463V;ENSP00000448610:A463V;ENSP00000404160:A260V;ENSP00000370388:A476V	ENSP00000266479:A463V	A	+	2	0	DNM1L	32776086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.336000	0.79245	2.516000	0.84829	0.655000	0.94253	GCC	DNM1L	-	pfam_Dynamin_central	ENSG00000087470		0.318	DNM1L-003	KNOWN	basic|CCDS	protein_coding	DNM1L	HGNC	protein_coding	OTTHUMT00000404124.1	-	0	46	0	C	NM_012062		32884819	1	tier1	-	no_errors	ENST00000553257	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	32884819	C	T	32884819	3	4	180	1	0	0	0	0	1	0	0	0	4685	739	26	3	1434	3	DNM1L	12	32884819	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	5751282	32884819	100967076	154	44813											
TWF1	5756	genome.wustl.edu	37	chr12	44191174	44191174	+	Nonsense_Mutation	SNP	T	T	A	0	1	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	atggtaacgagctgaatcctTgggaatcctctttggcaaat	11	12	10	8	1	1	1	0	1	1	0	3	3	3	2	2	3	2	3	2	3	4	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:44191174T>A	ENST00000395510.2	-	7	820	c.691A>T	c.(691-693)Aag>Tag	p.K231*	TWF1_ENST00000548315.1_Nonsense_Mutation_p.K238*|TWF1_ENST00000552521.1_Nonsense_Mutation_p.K133*|TWF1_ENST00000325127.4_Nonsense_Mutation_p.K265*	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	231	ADF-H 2. {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)		GCTGAATCCTTGGGAATCCTC	0.313																																																	0													78	82	81					12																	44191174		2203	4296	6499	SO:0001587	stop_gained	0			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.691A>T	12.37:g.44191174T>A	ENSP00000378886:p.Lys231*		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Nonsense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.K265*	ENST00000395510.2	37	c.793	CCDS31780.2	12	.	.	.	.	.	.	.	.	.	.	T	28.1	4.891488	0.91889	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315;ENST00000546662	.	.	.	5.42	5.42	0.78866	.	0.043752	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0783	15.4549	0.75305	0.0:0.0:0.0:1.0	.	.	.	.	X	133;231;265;238;269	.	ENSP00000321058:K265X	K	-	1	0	TWF1	42477441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.064000	0.61679	0.482000	0.46254	AAG	TWF1	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	ENSG00000151239		0.313	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TWF1	HGNC	protein_coding	OTTHUMT00000403956.1	-	0	63	0	T	NM_002822		44191174	-1	tier1	-	no_errors	ENST00000325127	ensembl	human	known	74_37	nonsense	10.26	35	4	SNP	1.000	A	A	44191174	T	A	44191174	4	1	180	1	0	0	0	0	0	1	0	0	16830	1821	63	5	373	5	TWF1	12	44191174	Nonsense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	11306355	44191174	89660721	155	44814											
ANKRD52	283373	genome.wustl.edu	37	chr12	56646326	56646326	+	Missense_Mutation	SNP	T	T	A	0	1	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	cctcaagtcagctccactgcTcaacagcaaattaagacatt	14	9	5	13	0	3	1	3	0	0	1	4	1	4	1	2	0	4	3	2	0	4	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:56646326T>A	ENST00000267116.7	-	13	1451	c.1330A>T	c.(1330-1332)Agc>Tgc	p.S444C		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	444										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCTCCACTGCTCAACAGCAAA	0.443																																																	0													156	150	152					12																	56646326		1925	4134	6059	SO:0001583	missense	0			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.1330A>T	12.37:g.56646326T>A	ENSP00000267116:p.Ser444Cys		A6NE79|B1Q2K2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S444C	ENST00000267116.7	37	c.1330	CCDS44920.1	12	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221998	0.79464	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.65364	-0.15	4.67	4.67	0.58626	Ankyrin repeat-containing domain (3);	0.045898	0.85682	D	0.000000	T	0.77605	0.4155	M	0.75884	2.315	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.80865	-0.1191	10	0.87932	D	0	.	13.4294	0.61046	0.0:0.0:0.0:1.0	.	444	Q8NB46	ANR52_HUMAN	C	444	ENSP00000267116:S444C	ENSP00000267116:S444C	S	-	1	0	ANKRD52	54932593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.939000	0.70179	1.881000	0.54492	0.460000	0.39030	AGC	ANKRD52	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000139645		0.443	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD52	HGNC	protein_coding	OTTHUMT00000408539.1		0	83	0	T	NM_173595		56646326	-1			no_errors	ENST00000267116	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	56646326	T	A	56646326	3	1	180	1	0	0	0	0	1	0	0	0	678	1551	54	5	1964	5	ANKRD52	12	56646326	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	12455152	56646326	77205569	156	44815											
CMKLR1	1240	genome.wustl.edu	37	chr12	108686241	108686241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggggaactcaagaagaaagCcaggacccagatgaccatgc	15	4	12	10	0	1	4	1	1	0	3	1	6	1	6	3	3	3	0	3	3	4	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:108686241C>A	ENST00000312143.7	-	3	862	c.499G>T	c.(499-501)Gct>Tct	p.A167S	CMKLR1_ENST00000397688.2_Missense_Mutation_p.A165S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.A167S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.A167S|CMKLR1_ENST00000552995.1_Missense_Mutation_p.A165S	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	167					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AAGAAGAAAGCCAGGACCCAG	0.572																																																	0													85	86	86					12																	108686241		2095	4228	6323	SO:0001583	missense	0			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.499G>T	12.37:g.108686241C>A	ENSP00000311733:p.Ala167Ser		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.A167S	ENST00000312143.7	37	c.499	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	c	14.40	2.522915	0.44866	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.32	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.115711	0.56097	N	0.000021	T	0.33962	0.0881	L	0.27053	0.805	0.41980	D	0.990795	P	0.45474	0.859	P	0.47376	0.545	T	0.08994	-1.0695	10	0.40728	T	0.16	.	14.4205	0.67180	0.1486:0.8514:0.0:0.0	.	167	Q99788	CML1_HUMAN	S	167;167;165;165;167	ENSP00000311733:A167S;ENSP00000401293:A167S;ENSP00000380803:A165S;ENSP00000447579:A165S;ENSP00000449716:A167S	ENSP00000311733:A167S	A	-	1	0	CMKLR1	107210371	0.965000	0.33210	1.000000	0.80357	0.826000	0.46750	2.031000	0.41117	1.227000	0.43598	-0.322000	0.08575	GCT	CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000174600		0.572	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1		0	43	0	C			108686241	-1			no_errors	ENST00000312143	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	A	A	108686241	C	A	108686241	3	1	180	1	0	0	0	0	1	0	0	0	3586	739	26	3	626	3	CMKLR1	12	108686241	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	52039915	108686241	25165654	157	44816											
ATP2A2	488	genome.wustl.edu	37	chr12	110778492	110778492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccttcgttggctgcgtggGcatgctggatcctccgagaa	6	10	14	11	3	0	1	0	0	0	1	3	4	2	2	3	3	2	4	3	3	1	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:110778492G>A	ENST00000539276.2	+	14	1899	c.1790G>A	c.(1789-1791)gGc>gAc	p.G597D	ATP2A2_ENST00000395494.2_Missense_Mutation_p.G570D|ATP2A2_ENST00000308664.6_Missense_Mutation_p.G597D			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	597					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						GGCTGCGTGGGCATGCTGGAT	0.502																																																	0													110	114	113					12																	110778492		2203	4300	6503	SO:0001583	missense	0				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.1790G>A	12.37:g.110778492G>A	ENSP00000440045:p.Gly597Asp		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.G597D	ENST00000539276.2	37	c.1790	CCDS9144.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.224851	0.95173	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.91407	-2.84;-2.84;-2.84	6.07	6.07	0.98685	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.97929	0.9319	H	0.99573	4.635	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.995;0.997;0.998	D	0.98650	1.0679	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	570;597;597	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	D	597;570;597	ENSP00000311186:G597D;ENSP00000378872:G570D;ENSP00000440045:G597D	ENSP00000311186:G597D	G	+	2	0	ATP2A2	109262875	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GGC	ATP2A2	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000174437		0.502	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1		0	48	0	G	NM_001681		110778492	1			no_errors	ENST00000539276	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	110778492	G	A	110778492	3	1	180	1	0	0	0	0	1	0	0	0	1138	1203	42	3	1844	3	ATP2A2	12	110778492	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	2092251	110778492	23073403	158	44817											
GCN1L1	10985	genome.wustl.edu	37	chr12	120612974	120612974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	aaatcctatacctgagaggaCgctcatcttctgggctacaa	12	10	8	11	1	3	1	1	1	2	1	4	3	4	2	2	2	2	2	2	2	5	4	rs374519500		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:120612974C>T	ENST00000300648.6	-	12	1096	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	362					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)					CCTGAGAGGACGCTCATCTTC	0.413																																																	0								C	ILE/VAL	1,3761		0,1,1880	98	88	91		1084	5.2	1	12		91	0,8222		0,0,4111	no	missense	GCN1L1	NM_006836.1	29	0,1,5991	TT,TC,CC		0.0,0.0266,0.0083	benign	362/2672	120612974	1,11983	1881	4111	5992	SO:0001583	missense	0			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.1084G>A	12.37:g.120612974C>T	ENSP00000300648:p.Val362Ile		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V362I	ENST00000300648.6	37	c.1084	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952399	0.53293	2.66E-4	0.0	ENSG00000089154	ENST00000300648	T	0.04917	3.53	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	L	0.48877	1.53	0.80722	D	1	B	0.20164	0.042	B	0.10450	0.005	T	0.27365	-1.0076	10	0.13470	T	0.59	-3.5148	18.6639	0.91481	0.0:1.0:0.0:0.0	.	362	Q92616	GCN1L_HUMAN	I	362	ENSP00000300648:V362I	ENSP00000300648:V362I	V	-	1	0	GCN1L1	119097357	1.000000	0.71417	0.985000	0.45067	0.840000	0.47671	7.225000	0.78051	2.403000	0.81681	0.563000	0.77884	GTC	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.413	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1		0	66	0	C			120612974	-1			no_errors	ENST00000300648	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	120612974	C	T	120612974	3	4	180	1	0	0	0	0	1	0	0	0	6324	536	19	1	7119	1	GCN1L1	12	120612974	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	9834482	120612974	13238921	159	44818											
PGAM5	192111	genome.wustl.edu	37	chr12	133291604	133291604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctccctggagaaggacCgcactctgaccccgctgggt	7	7	13	14	2	1	2	0	1	1	1	2	4	2	3	4	4	0	3	4	4	1	0	rs376090046		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr12:133291604C>T	ENST00000498926.2	+	2	410	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	PGAM5_ENST00000317555.2_Missense_Mutation_p.R118C|PGAM5_ENST00000454808.2_5'UTR|PXMP2_ENST00000545677.1_Missense_Mutation_p.P157L|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	118					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)		GGAGAAGGACCGCACTCTGAC	0.592																																																	0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,4404		0,0,2202	80	54	63		352,352,352	2.7	1	12		63	1,8595		0,1,4297	no	missense,missense,missense	PGAM5	NM_138575.3,NM_001170544.1,NM_001170543.1	180,180,180	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	118/256,118/289,118/290	133291604	1,12999	2202	4298	6500	SO:0001583	missense	0			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.352C>T	12.37:g.133291604C>T	ENSP00000438465:p.Arg118Cys		A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1	p.R118C	ENST00000498926.2	37	c.352	CCDS53845.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.96|11.96	1.795261|1.795261	0.31777|0.31777	0.0|0.0	1.16E-4|1.16E-4	ENSG00000176894|ENSG00000247077	ENST00000545677|ENST00000317555;ENST00000498926	.|T;T	.|0.72167	.|1.43;-0.63	4.64|4.64	2.67|2.67	0.31697|0.31697	.|Histidine phosphatase superfamily, clade-1 (2);	.|0.047537	.|0.85682	.|N	.|0.000000	T|T	0.62368|0.62368	0.2422|0.2422	M|M	0.64170|0.64170	1.965|1.965	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27823	.|0.105;0.19	.|B;B	.|0.20577	.|0.03;0.022	T|T	0.62699|0.62699	-0.6799|-0.6799	6|10	0.87932|0.66056	D|D	0|0.02	-9.9653|-9.9653	7.3169|7.3169	0.26505|0.26505	0.2997:0.6094:0.0:0.0909|0.2997:0.6094:0.0:0.0909	.|.	.|118;118	.|Q96HS1;Q96HS1-2	.|PGAM5_HUMAN;.	L|C	157|118	.|ENSP00000321503:R118C;ENSP00000438465:R118C	ENSP00000444697:P157L|ENSP00000321503:R118C	P|R	+|+	2|1	0|0	PXMP2|PGAM5	131801677|131801677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	2.068000|2.068000	0.41471|0.41471	0.953000|0.953000	0.37825|0.37825	0.462000|0.462000	0.41574|0.41574	CCG|CGC	PGAM5	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1	ENSG00000247077		0.592	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM5	HGNC	protein_coding	OTTHUMT00000397562.1	-	0	33	0	C	NM_138575		133291604	1	tier1	-	no_errors	ENST00000498926	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.993	T	T	133291604	C	T	133291604	3	4	180	1	0	0	0	0	1	0	0	0	11815	652	23	1	358	1	PGAM5	12	133291604	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	12678630	133291604	560291	160	44819											
POMP	51371	genome.wustl.edu	37	chr13	29242633	29242633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcaaccaagataaaatGaatttttccacactgagaaa	18	9	5	9	0	1	3	1	2	0	2	2	4	2	3	2	0	2	1	2	0	6	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr13:29242633G>T	ENST00000380842.4	+	4	267	c.186G>T	c.(184-186)atG>atT	p.M62I	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	62					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		AAGATAAAATGAATTTTTCCA	0.363																																																	0													107	103	104					13																	29242633		2203	4300	6503	SO:0001583	missense	0			AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"proteassemblin"	613386	"chromosome 13 open reading frame 12"	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.186G>T	13.37:g.29242633G>T	ENSP00000370222:p.Met62Ile		A5HKJ2|D6MXU3|Q9HB69	Missense_Mutation	SNP	pfam_UMP1	p.M62I	ENST00000380842.4	37	c.186	CCDS9331.1	13	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078135	0.55753	.	.	ENSG00000132963	ENST00000380842	.	.	.	6.14	6.14	0.99180	.	0.105732	0.85682	D	0.000000	T	0.68559	0.3014	M	0.71871	2.18	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.61466	-0.7057	9	0.33940	T	0.23	-11.9195	19.5905	0.95508	0.0:0.0:1.0:0.0	.	62	Q9Y244	POMP_HUMAN	I	62	.	ENSP00000370222:M62I	M	+	3	0	POMP	28140633	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.787000	0.69013	2.927000	0.99377	0.637000	0.83480	ATG	POMP	-	pfam_UMP1	ENSG00000132963		0.363	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMP	HGNC	protein_coding	OTTHUMT00000044327.1		0	63	0	G	NM_015932		29242633	1			no_errors	ENST00000380842	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	29242633	G	T	29242633	3	4	180	1	0	0	0	0	1	0	0	0	12283	1290	45	3	200	3	POMP	13	29242633	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09		29242633	85927245	161	44820											
FRY	10129	genome.wustl.edu	37	chr13	32676113	32676113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	tttctaggaaaagccattgaCaaaatctctgcaacgtggag	14	10	9	8	1	2	1	0	1	2	0	3	3	2	3	1	2	3	1	1	2	6	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr13:32676113C>T	ENST00000380250.3	+	3	780	c.284C>T	c.(283-285)aCa>aTa	p.T95I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	95						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T95I(1)		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)		AAGCCATTGACAAAATCTCTG	0.313																																																	1	Substitution - Missense(1)	large_intestine(1)											100	99	99					13																	32676113		1826	4073	5899	SO:0001583	missense	0			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.284C>T	13.37:g.32676113C>T	ENSP00000369600:p.Thr95Ile		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T95I	ENST00000380250.3	37	c.284	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566278	0.45694	.	.	ENSG00000073910	ENST00000380250;ENST00000436046;ENST00000267067	T	0.21932	1.98	5.15	5.15	0.70609	.	0.054125	0.64402	D	0.000001	T	0.25195	0.0612	L	0.56769	1.78	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.03695	-1.1012	10	0.87932	D	0	.	15.6974	0.77512	0.0:1.0:0.0:0.0	.	95	Q5TBA9	FRY_HUMAN	I	95;92;61	ENSP00000369600:T95I	ENSP00000267067:T61I	T	+	2	0	FRY	31574113	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.249000	0.65427	2.547000	0.85894	0.655000	0.94253	ACA	FRY	-	NULL	ENSG00000073910		0.313	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1		0	77	0	C	NM_023037		32676113	1			no_errors	ENST00000380250	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	32676113	C	T	32676113	3	4	180	1	0	0	0	0	1	0	0	0	6087	478	17	3	294	3	FRY	13	32676113	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	3433480	32676113	82493765	162	44821											
PDS5B	23047	genome.wustl.edu	37	chr13	33226107	33226107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatattttcaggatttatgCtcctgaagctccttacacat	10	16	6	9	0	1	2	1	2	0	0	3	3	3	3	2	1	3	2	2	1	4	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr13:33226107C>T	ENST00000315596.10	+	3	461	c.275C>T	c.(274-276)gCt>gTt	p.A92V		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	92					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)		AGGATTTATGCTCCTGAAGCT	0.368																																																	0													182	172	175					13																	33226107		1869	4116	5985	SO:0001583	missense	0			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.275C>T	13.37:g.33226107C>T	ENSP00000313851:p.Ala92Val		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A92V	ENST00000315596.10	37	c.275	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	C	36	5.723275	0.96847	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.68479	-0.33	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83599	0.5289	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.998	D	0.83872	0.0274	10	0.54805	T	0.06	-18.5746	19.961	0.97250	0.0:1.0:0.0:0.0	.	92;92;92	Q9NTI5;Q9NTI5-3;Q9NTI5-4	PDS5B_HUMAN;.;.	V	92	ENSP00000313851:A92V	ENSP00000313851:A92V	A	+	2	0	PDS5B	32124107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.654000	0.83653	2.783000	0.95769	0.655000	0.94253	GCT	PDS5B	-	superfamily_ARM-type_fold	ENSG00000083642		0.368	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3		0	110	0	C	NM_015032		33226107	1			no_errors	ENST00000315596	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	33226107	C	T	33226107	3	4	180	1	0	0	0	0	1	0	0	0	11731	797	28	3	281	3	PDS5B	13	33226107	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	549994	33226107	81943771	163	44822											
FAM48A	55578	genome.wustl.edu	37	chr13	37619410	37619410	+	Missense_Mutation	SNP	A	A	T	1	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	cgttttttcccctgagcatcAgagaatatccctcatttcct	8	15	5	13	1	2	2	2	1	0	1	5	3	5	2	4	0	1	2	4	0	2	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr13:37619410A>T	ENST00000350612.6	-	6	486	c.266T>A	c.(265-267)cTg>cAg	p.L89Q	SUPT20H_ENST00000360252.4_Missense_Mutation_p.L90Q|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000475892.1_Missense_Mutation_p.L89Q|SUPT20H_ENST00000464744.1_Missense_Mutation_p.L90Q|SUPT20H_ENST00000542180.1_Missense_Mutation_p.L77Q|SUPT20H_ENST00000356185.3_Missense_Mutation_p.L90Q	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	89					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CCTGAGCATCAGAGAATATCC	0.393																																																	0													120	111	114					13																	37619410		2203	4300	6503	SO:0001583	missense	0			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.266T>A	13.37:g.37619410A>T	ENSP00000218894:p.Leu89Gln		E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	pfam_Spt20	p.L89Q	ENST00000350612.6	37	c.266	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	A	27.5	4.836535	0.91117	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180;ENST00000497318	T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	T	0.72661	0.3488	M	0.85041	2.73	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;0.997;0.999;0.998;0.999	T	0.77811	-0.2449	10	0.87932	D	0	-7.7057	16.0796	0.80995	1.0:0.0:0.0:0.0	.	77;89;89;90;90;89	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	Q	90;89;89;90;89;90;77;90	ENSP00000353388:L90Q;ENSP00000417510:L89Q;ENSP00000218894:L89Q;ENSP00000348512:L90Q;ENSP00000419754:L90Q;ENSP00000439000:L77Q;ENSP00000420170:L90Q	ENSP00000218894:L89Q	L	-	2	0	FAM48A	36517410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.273000	0.95719	2.195000	0.70347	0.528000	0.53228	CTG	SUPT20H	-	pfam_Spt20	ENSG00000102710		0.393	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT20H	HGNC	protein_coding	OTTHUMT00000354766.1	-	0	112	0	A	NM_017569		37619410	-1	tier1	-	no_errors	ENST00000350612	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	37619410	A	T	37619410	3	4	180	1	0	0	0	0	1	0	0	0	5594	188	7	5	2157	5	FAM48A	13	37619410	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	4393303	37619410	77550468	164	44823											
NALCN	259232	genome.wustl.edu	37	chr13	101717816	101717816	+	Missense_Mutation	SNP	A	A	G	1	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	gcctctccatttcgtagcacAtgtgcttaaacaggagcttg	9	12	9	11	1	1	0	0	0	1	0	3	1	1	1	2	1	4	4	2	1	3	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr13:101717816A>G	ENST00000251127.6	-	40	4625	c.4544T>C	c.(4543-4545)aTg>aCg	p.M1515T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1515					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)					TTCGTAGCACATGTGCTTAAA	0.592																																																	0													175	135	149					13																	101717816		2203	4300	6503	SO:0001583	missense	0			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.4544T>C	13.37:g.101717816A>G	ENSP00000251127:p.Met1515Thr		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.M1515T	ENST00000251127.6	37	c.4544	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244701	0.79912	.	.	ENSG00000102452	ENST00000251127	D	0.97850	-4.57	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.98102	0.9374	L	0.55213	1.73	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	D	0.99445	1.0939	10	0.87932	D	0	.	15.9883	0.80179	1.0:0.0:0.0:0.0	.	1515	Q8IZF0	NALCN_HUMAN	T	1515	ENSP00000251127:M1515T	ENSP00000251127:M1515T	M	-	2	0	NALCN	100515817	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.172000	0.68678	0.533000	0.62120	ATG	NALCN	-	NULL	ENSG00000102452		0.592	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	56	0	A	NM_052867		101717816	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G	G	101717816	A	G	101717816	3	3	180	1	0	0	0	0	1	0	0	0	10186	217	8	4	692	4	NALCN	13	101717816	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	64098406	101717816	13452062	165	44824											
CHD8	57680	genome.wustl.edu	37	chr14	21896333	21896333	+	Silent	SNP	T	T	C	0	1	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	tgaggagcagagcttgctggTgatgacaaagctgccacttc	10	9	13	9	0	0	4	0	3	0	1	1	5	0	5	1	2	5	4	1	2	1	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr14:21896333T>C	ENST00000557364.1	-	4	1559	c.1296A>G	c.(1294-1296)tcA>tcG	p.S432S	CHD8_ENST00000399982.2_Silent_p.S432S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.S153S|RN7SL650P_ENST00000583681.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	432					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)		AGCTTGCTGGTGATGACAAAG	0.488																																																	0													130	125	126					14																	21896333		1921	4128	6049	SO:0001819	synonymous_variant	0			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.1296A>G	14.37:g.21896333T>C			Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S432	ENST00000557364.1	37	c.1296	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.488	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1		0	57	0	T	NM_020920		21896333	-1			no_errors	ENST00000399982	ensembl	human	known	74_37	silent	5.88	47	3	SNP	0.756	C	C	21896333	T	C	21896333	2	2	180	1	0	0	0	0	0	0	0	1	3338	1683	59	4		4	CHD8	14	21896333	Silent	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09		21896333	85453207	166	44825											
HEATR5A	25938	genome.wustl.edu	37	chr14	31819037	31819037	+	Missense_Mutation	SNP	T	T	A	0	1	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	atccagcagtaaaagctccaTcatctaccacttgggctaat	13	10	6	12	0	2	0	1	0	1	0	4	0	4	0	3	1	3	4	3	1	4	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr14:31819037T>A	ENST00000389961.3	-	17	2647	c.2648A>T	c.(2647-2649)gAt>gTt	p.D883V	HEATR5A_ENST00000543095.2_Missense_Mutation_p.D889V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.D596V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.D883V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.D889V			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	883										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)		AAAAGCTCCATCATCTACCAC	0.418																																																	0													60	57	58					14																	31819037		1877	4108	5985	SO:0001583	missense	0			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.2648A>T	14.37:g.31819037T>A	ENSP00000374611:p.Asp883Val		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D883V	ENST00000389961.3	37	c.2648		14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	24.0|24.0|24.0	4.478309|4.478309|4.478309	0.84747|0.84747|0.84747	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000538864|ENST00000550366	T;T;T;T;T|.|.	0.68331|.|.	-0.32;-0.32;-0.32;-0.32;-0.32|.|.	5.48|5.48|5.48	5.48|5.48|5.48	0.80851|0.80851|0.80851	Armadillo-like helical (1);Armadillo-type fold (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.78091|0.78091|.	0.4229|0.4229|.	M|M|M	0.83223|0.83223|0.83223	2.63|2.63|2.63	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	1.0;0.995;1.0|.|.	D;D;D|.|.	0.91635|.|.	0.999;0.965;0.991|.|.	T|T|.	0.80279|0.80279|.	-0.1449|-0.1449|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	15.5769|15.5769|15.5769	0.76397|0.76397|0.76397	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	889;883;883|.|.	B5MC49;Q86XA9-2;Q86XA9|.|.	.;.;HTR5A_HUMAN|.|.	V|L|C	883;883;596;889;889|517|531	ENSP00000374611:D883V;ENSP00000405407:D883V;ENSP00000408681:D596V;ENSP00000437968:D889V;ENSP00000384646:D889V|.|.	ENSP00000374611:D883V|.|.	D|M|X	-|-|-	2|1|3	0|0|0	HEATR5A|HEATR5A|HEATR5A	30888788|30888788|30888788	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	5.884000|5.884000|5.884000	0.69729|0.69729|0.69729	2.091000|2.091000|2.091000	0.63221|0.63221|0.63221	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATG|TGA	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.418	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		-	0	50	0	T	NM_015473		31819037	-1	tier1	-	no_errors	ENST00000389961	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	31819037	T	A	31819037	3	1	180	1	0	0	0	0	1	0	0	0	7058	1435	50	5	3550	5	HEATR5A	14	31819037	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	9922704	31819037	75530503	167	44826											
PRPF39	55015	genome.wustl.edu	37	chr14	45564749	45564749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgggtatatttgcttCaatatgtagaacaggaggtt	11	13	12	5	0	1	1	1	0	0	1	1	2	1	2	0	4	2	5	0	4	6	7			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr14:45564749C>A	ENST00000355765.6	+	2	477	c.307C>A	c.(307-309)Caa>Aaa	p.Q103K		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	103					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.Q103*(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATATTTGCTTCAATATGTAGA	0.313																																																	1	Substitution - Nonsense(1)	cervix(1)											15	15	15					14																	45564749		1814	4066	5880	SO:0001583	missense	0			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.307C>A	14.37:g.45564749C>A	ENSP00000348010:p.Gln103Lys		Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	smart_HAT	p.Q103K	ENST00000355765.6	37	c.307	CCDS9682.2	14	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678435	0.68042	.	.	ENSG00000185246	ENST00000355765	T	0.32515	1.45	5.87	5.87	0.94306	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.32436	0.0829	L	0.39085	1.19	0.80722	D	1	P	0.36438	0.553	B	0.42112	0.376	T	0.02009	-1.1230	9	0.14656	T	0.56	-18.0729	19.7885	0.96447	0.0:1.0:0.0:0.0	.	103	Q86UA1	PRP39_HUMAN	K	103	ENSP00000348010:Q103K	ENSP00000348010:Q103K	Q	+	1	0	PRPF39	44634499	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.130000	0.77235	2.779000	0.95612	0.591000	0.81541	CAA	PRPF39	-	NULL	ENSG00000185246		0.313	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF39	HGNC	protein_coding	OTTHUMT00000319683.2		0	34	0	C			45564749	1			no_errors	ENST00000355765	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	A	A	45564749	C	A	45564749	3	1	180	1	0	0	0	0	1	0	0	0	12611	827	29	3	309	3	PRPF39	14	45564749	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	13745712	45564749	61784791	168	44827											
PCNX	22990	genome.wustl.edu	37	chr14	71445317	71445317	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctaggaatagcttgccaAaccaggttgcatttcctgaa	12	11	9	9	0	1	1	0	1	1	0	2	3	2	2	3	2	4	3	3	2	5	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr14:71445317A>C	ENST00000304743.2	+	6	2709	c.2263A>C	c.(2263-2265)Aac>Cac	p.N755H	PCNX_ENST00000439984.3_Missense_Mutation_p.N755H|PCNX_ENST00000238570.5_Missense_Mutation_p.N755H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	755						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)		TAGCTTGCCAAACCAGGTTGC	0.448																																																	0													82	80	81					14																	71445317		2203	4300	6503	SO:0001583	missense	0			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.2263A>C	14.37:g.71445317A>C	ENSP00000304192:p.Asn755His		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.N755H	ENST00000304743.2	37	c.2263	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311200	0.40895	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.10668	5.32;5.32;2.85	5.56	5.56	0.83823	.	0.238485	0.48767	D	0.000162	T	0.15349	0.0370	L	0.38175	1.15	0.24216	N	0.995456	B;B;P	0.36315	0.162;0.162;0.547	B;B;B	0.44224	0.121;0.066;0.444	T	0.09618	-1.0666	10	0.49607	T	0.09	.	15.7166	0.77672	1.0:0.0:0.0:0.0	.	755;755;755	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	H	755	ENSP00000304192:N755H;ENSP00000238570:N755H;ENSP00000396617:N755H	ENSP00000238570:N755H	N	+	1	0	PCNX	70515070	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.446000	0.66600	2.111000	0.64477	0.533000	0.62120	AAC	PCNX	-	NULL	ENSG00000100731		0.448	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	-	0	80	0	A	NM_014982		71445317	1	tier1	-	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	37.25	32	19	SNP	1.000	C	C	71445317	A	C	71445317	3	2	180	1	0	0	0	0	1	0	0	0	11630	14	1	4	2285	4	PCNX	14	71445317	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	25880568	71445317	35904223	169	44828											
PACS2	23241	genome.wustl.edu	37	chr14	105847331	105847331	+	Missense_Mutation	SNP	A	A	G	1	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	ggagcaccctggacagcctgAggacagccccgaggctgagg	9	3	16	13	1	0	2	0	2	0	0	0	6	0	5	4	5	3	2	4	5	0	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr14:105847331A>G	ENST00000325438.8	+	12	1667	c.1163A>G	c.(1162-1164)gAg>gGg	p.E388G	PACS2_ENST00000547217.1_Missense_Mutation_p.E358G|PACS2_ENST00000551743.1_5'Flank|PACS2_ENST00000458164.2_Missense_Mutation_p.E388G|PACS2_ENST00000447393.1_Missense_Mutation_p.E388G|PACS2_ENST00000430725.2_Missense_Mutation_p.E313G			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	388					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GGACAGCCTGAGGACAGCCCC	0.677																																																	0													37	35	36					14																	105847331		2202	4299	6501	SO:0001583	missense	0			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1163A>G	14.37:g.105847331A>G	ENSP00000321834:p.Glu388Gly		A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.E388G	ENST00000325438.8	37	c.1163	CCDS32168.1	14	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422570	0.25639	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	4.97	3.8	0.43715	.	0.332161	0.32147	N	0.006520	T	0.15262	0.0368	N	0.22421	0.69	0.30804	N	0.739527	B;B;B;B	0.27140	0.0;0.002;0.001;0.169	B;B;B;B	0.27380	0.002;0.005;0.002;0.079	T	0.12734	-1.0536	10	0.30078	T	0.28	-18.0032	6.8856	0.24197	0.6955:0.1553:0.0:0.1492	.	388;388;388;389	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	G	313;388;388;388;358	ENSP00000393524:E313G;ENSP00000321834:E388G;ENSP00000399732:E388G;ENSP00000393559:E388G;ENSP00000449525:E358G	ENSP00000321834:E388G	E	+	2	0	PACS2	104918376	0.673000	0.27539	0.901000	0.35422	0.830000	0.47004	2.056000	0.41355	0.731000	0.32448	0.482000	0.46254	GAG	PACS2	-	NULL	ENSG00000179364		0.677	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	HGNC	protein_coding	OTTHUMT00000409209.1	-	0	122	0	A	XM_377355		105847331	1	tier1	-	no_errors	ENST00000458164	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.773	G	G	105847331	A	G	105847331	3	3	180	1	0	0	0	0	1	0	0	0	11412	304	11	4	1209	4	PACS2	14	105847331	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	34402014	105847331	1502209	170	44829											
HERC2	8924	genome.wustl.edu	37	chr15	28451412	28451412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctgtttatcaaatatggCcttcacaggagacggctggg	9	12	11	9	1	2	1	2	0	0	1	3	2	3	1	2	4	0	2	2	4	3	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr15:28451412C>T	ENST00000261609.7	-	45	7294	c.7186G>A	c.(7186-7188)Gcc>Acc	p.A2396T		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)		TCAAATATGGCCTTCACAGGA	0.493																																																	0													2	2	2					15																	28451412		975	2237	3212	SO:0001583	missense	0			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.7186G>A	15.37:g.28451412C>T	ENSP00000261609:p.Ala2396Thr			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.A2396T	ENST00000261609.7	37	c.7186	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045144	0.93685	.	.	ENSG00000128731	ENST00000261609	T	0.59772	0.24	4.32	4.32	0.51571	.	0.063670	0.64402	D	0.000010	T	0.69387	0.3105	M	0.72894	2.215	0.80722	D	1	D	0.61697	0.99	P	0.54238	0.746	T	0.75625	-0.3253	10	0.72032	D	0.01	.	17.0659	0.86559	0.0:1.0:0.0:0.0	.	2396	O95714	HERC2_HUMAN	T	2396	ENSP00000261609:A2396T	ENSP00000261609:A2396T	A	-	1	0	HERC2	26125007	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	7.409000	0.80053	2.239000	0.73571	0.449000	0.29647	GCC	HERC2	-	NULL	ENSG00000128731		0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	215	0	C	NM_004667		28451412	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	61.54	40	64	SNP	1.000	T	T	28451412	C	T	28451412	3	4	180	1	0	0	0	0	1	0	0	0	7085	739	26	3	7514	3	HERC2	15	28451412	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09		28451412	74079980	171	44830											
MGA	23269	genome.wustl.edu	37	chr15	42058517	42058517	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaagagttcttacctaaaaAgatttctggtgatatgagag	15	12	9	5	0	2	4	0	2	2	3	2	5	2	4	1	1	1	1	1	1	6	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr15:42058517A>G	ENST00000570161.1	+	23	8237	c.8237A>G	c.(8236-8238)aAg>aGg	p.K2746R	MGA_ENST00000389936.4_Missense_Mutation_p.K2707R|MGA_ENST00000545763.1_Missense_Mutation_p.K2537R|MGA_ENST00000219905.7_Missense_Mutation_p.K2746R|MGA_ENST00000566586.1_Missense_Mutation_p.K2537R			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)	TTACCTAAAAAGATTTCTGGT	0.373																																																	0													43	40	41					15																	42058517		1827	4090	5917	SO:0001583	missense	0			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.8237A>G	15.37:g.42058517A>G	ENSP00000457035:p.Lys2746Arg		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.K2746R	ENST00000570161.1	37	c.8237	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	A	14.26	2.483286	0.44147	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86769	-2.13;-2.15;-2.17	5.37	4.25	0.50352	.	0.555826	0.15843	N	0.241955	T	0.76941	0.4058	N	0.14661	0.345	0.21897	N	0.999487	B;B	0.15141	0.012;0.007	B;B	0.14578	0.011;0.005	T	0.68311	-0.5442	10	0.87932	D	0	.	9.9135	0.41419	0.9236:0.0:0.0764:0.0	.	2537;2746	F5H7K2;E7ENI0	.;.	R	2746;2707;2537	ENSP00000219905:K2746R;ENSP00000374586:K2707R;ENSP00000442467:K2537R	ENSP00000219905:K2746R	K	+	2	0	MGA	39845809	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.241000	0.58707	1.056000	0.40484	0.528000	0.53228	AAG	MGA	-	NULL	ENSG00000174197		0.373	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1		0	80	0	A	NM_001164273.1		42058517	1			no_errors	ENST00000219905	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.986	G	G	42058517	A	G	42058517	3	3	180	1	0	0	0	0	1	0	0	0	9578	72	3	4	8327	4	MGA	15	42058517	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	13607105	42058517	60472875	172	44831											
PPIP5K1	9677	genome.wustl.edu	37	chr15	43827200	43827200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	agttctccagacatagctggCaaacttcctcagagactttc	11	11	7	12	0	2	2	1	0	1	2	5	3	3	2	2	1	2	3	2	1	2	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr15:43827200C>A	ENST00000396923.3	-	30	4095	c.3974G>T	c.(3973-3975)tGc>tTc	p.C1325F	PPIP5K1_ENST00000348806.6_Missense_Mutation_p.C1298F|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.C1300F|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.C1325F|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.C1298F|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.C1301F|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.C1321F|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.C1300F			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1325					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						ACATAGCTGGCAAACTTCCTC	0.552																																																	0													105	103	104					15																	43827200		2201	4298	6499	SO:0001583	missense	0			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.3974G>T	15.37:g.43827200C>A	ENSP00000380129:p.Cys1325Phe		O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2,superfamily_Cys_alpha_HP_mot_SF	p.C1325F	ENST00000396923.3	37	c.3974	CCDS45252.1	15	.	.	.	.	.	.	.	.	.	.	C	0.758	-0.770485	0.02974	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.21191	2.02;2.02;2.55;2.02;2.03;2.03;2.02;2.55	5.73	-1.04	0.10068	.	0.272986	0.26658	N	0.023179	T	0.12092	0.0294	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.13176	-1.0519	10	0.40728	T	0.16	0.3163	2.3529	0.04288	0.1218:0.4679:0.1189:0.2914	.	1298;1325;1322;1300	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	F	1321;1300;1298;1300;1325;1325;1300;1325;1301;1298;1087	ENSP00000371309:C1321F;ENSP00000353446:C1300F;ENSP00000353253:C1298F;ENSP00000334779:C1300F;ENSP00000380129:C1325F;ENSP00000400887:C1325F;ENSP00000371303:C1301F;ENSP00000308773:C1298F	ENSP00000304750:C1325F	C	-	2	0	PPIP5K1	41614492	0.000000	0.05858	0.003000	0.11579	0.299000	0.27559	-1.612000	0.02061	0.087000	0.17167	0.514000	0.50259	TGC	PPIP5K1	-	NULL	ENSG00000168781		0.552	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PPIP5K1	HGNC	protein_coding	OTTHUMT00000132907.1	-	0	77	0	C	NM_014659		43827200	-1	tier1	-	no_errors	ENST00000420765	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.000	A	A	43827200	C	A	43827200	3	1	180	1	0	0	0	0	1	0	0	0	12374	710	25	3	331	3	PPIP5K1	15	43827200	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	1768683	43827200	58704192	173	44832											
WDR72	256764	genome.wustl.edu	37	chr15	53908157	53908157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	tattatctccttgggccaggCtttcagtaataggcttggct	7	15	10	9	0	2	0	1	0	1	0	3	0	2	0	2	4	0	4	2	4	4	7			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr15:53908157C>G	ENST00000396328.1	-	15	2485	c.2246G>C	c.(2245-2247)aGc>aCc	p.S749T	WDR72_ENST00000360509.5_Missense_Mutation_p.S749T|WDR72_ENST00000559418.1_Missense_Mutation_p.S759T|WDR72_ENST00000557913.1_Missense_Mutation_p.S746T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	749										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)		TTGGGCCAGGCTTTCAGTAAT	0.433																																																	0													86	83	84					15																	53908157		2194	4293	6487	SO:0001583	missense	0			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.2246G>C	15.37:g.53908157C>G	ENSP00000379619:p.Ser749Thr		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S749T	ENST00000396328.1	37	c.2246	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.517108	0.00975	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35605	1.3;1.3	5.63	-1.38	0.09027	.	0.749654	0.13291	N	0.398943	T	0.15609	0.0376	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30475	-0.9977	10	0.11794	T	0.64	.	5.9107	0.19027	0.0:0.2805:0.2429:0.4767	.	749	Q3MJ13	WDR72_HUMAN	T	749	ENSP00000379619:S749T;ENSP00000353699:S749T	ENSP00000353699:S749T	S	-	2	0	WDR72	51695449	0.000000	0.05858	0.000000	0.03702	0.637000	0.38172	-0.462000	0.06704	-0.121000	0.11787	0.563000	0.77884	AGC	WDR72	-	NULL	ENSG00000166415		0.433	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	-	0	68	0	C	NM_182758		53908157	-1	tier1	-	no_errors	ENST00000360509	ensembl	human	known	74_37	missense	57.14	15	20	SNP	0.000	G	G	53908157	C	G	53908157	3	3	180	1	0	0	0	0	1	0	0	0	17371	797	28	5	1086	5	WDR72	15	53908157	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	10080957	53908157	48623235	174	44833											
CELF6	60677	genome.wustl.edu	37	chr15	72582500	72582500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaggactccgcaggaccGtgcactcctcgatgtggcca	7	7	12	15	4	1	0	1	0	0	0	4	3	3	2	4	3	1	2	4	3	0	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr15:72582500G>A	ENST00000569547.1	-	4	562	c.491C>T	c.(490-492)aCg>aTg	p.T164M	CELF6_ENST00000543764.2_Missense_Mutation_p.T49M|CELF6_ENST00000539635.1_Missense_Mutation_p.T25M|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000567083.1_Missense_Mutation_p.T164M|CELF6_ENST00000395258.2_Missense_Mutation_p.T51M|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_Missense_Mutation_p.T164M			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	164	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						CCGCAGGACCGTGCACTCCTC	0.607																																																	0													81	68	73					15																	72582500		2199	4297	6496	SO:0001583	missense	0			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.491C>T	15.37:g.72582500G>A	ENSP00000454749:p.Thr164Met		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T164M	ENST00000569547.1	37	c.491	CCDS10242.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.081825|4.081825	0.76528|0.76528	.|.	.|.	ENSG00000140488|ENSG00000140488	ENST00000379915|ENST00000287202;ENST00000437872;ENST00000543764;ENST00000395258;ENST00000539635	.|T;T;T;T	.|0.16597	.|2.33;2.33;2.33;2.33	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.33411|0.33411	0.0862|0.0862	L|L	0.34521|0.34521	1.04|1.04	0.53005|0.53005	D|D	0.999968|0.999968	.|D;P;D;D;D	.|0.89917	.|1.0;0.916;1.0;1.0;1.0	.|D;P;D;D;D	.|0.91635	.|0.947;0.727;0.938;0.989;0.999	T|T	0.06607|0.06607	-1.0817|-1.0817	6|10	0.72032|0.87932	D|D	0.01|0	-14.6692|-14.6692	17.8368|17.8368	0.88700|0.88700	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|164;49;51;25;164	.|B4DJB6;B4DG28;Q96J87-2;B3KWE6;Q96J87	.|.;.;.;.;CELF6_HUMAN	W|M	42|164;164;49;51;25	.|ENSP00000287202:T164M;ENSP00000439956:T49M;ENSP00000378677:T51M;ENSP00000443162:T25M	ENSP00000369247:R42W|ENSP00000287202:T164M	R|T	-|-	1|2	2|0	CELF6|CELF6	70369554|70369554	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.993000|0.993000	0.82548|0.82548	9.476000|9.476000	0.97823|0.97823	2.469000|2.469000	0.83416|0.83416	0.561000|0.561000	0.74099|0.74099	CGG|ACG	CELF6	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000273025		0.607	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	CELF6	Uniprot_gn	protein_coding	OTTHUMT00000420180.1		0	77	0	G	NM_052840		72582500	-1			no_errors	ENST00000569547	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	A	A	72582500	G	A	72582500	3	1	180	1	0	0	0	0	1	0	0	0	3227	1145	40	1	990	1	CELF6	15	72582500	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	18674343	72582500	29948892	175	44834											
PML	5371	genome.wustl.edu	37	chr15	74290730	74290730	+	Missense_Mutation	SNP	A	A	T	1	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	cctagcagagctgcgcaaccAgtcggtgcgtgagttcctgg	7	8	14	12	3	0	2	0	1	0	1	2	2	1	2	3	2	5	4	3	2	2	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr15:74290730A>T	ENST00000268058.3	+	2	611	c.515A>T	c.(514-516)cAg>cTg	p.Q172L	PML_ENST00000435786.2_Missense_Mutation_p.Q172L|PML_ENST00000567543.1_Missense_Mutation_p.Q172L|PML_ENST00000359928.4_Missense_Mutation_p.Q172L|PML_ENST00000395135.3_Missense_Mutation_p.Q172L|PML_ENST00000395132.2_Missense_Mutation_p.Q172L|PML_ENST00000436891.3_Missense_Mutation_p.Q172L|PML_ENST00000354026.6_Missense_Mutation_p.Q172L|PML_ENST00000569965.1_Missense_Mutation_p.Q172L|PML_ENST00000563500.1_Missense_Mutation_p.Q172L|PML_ENST00000564428.1_Missense_Mutation_p.Q172L|PML_ENST00000569477.1_Missense_Mutation_p.Q172L|PML_ENST00000268059.6_Missense_Mutation_p.Q172L|PML_ENST00000565898.1_Missense_Mutation_p.Q172L	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	172					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						CTGCGCAACCAGTCGGTGCGT	0.632			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													55	51	53					15																	74290730		2198	4297	6495	SO:0001583	missense	0			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.515A>T	15.37:g.74290730A>T	ENSP00000268058:p.Gln172Leu		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q172L	ENST00000268058.3	37	c.515	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081317	0.36758	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	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	4.61	4.61	0.57282	.	0.629214	0.14408	N	0.321475	T	0.44393	0.1291	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;P;P;B;P;B;D;B	0.57257	0.002;0.088;0.143;0.226;0.011;0.514;0.625;0.115;0.799;0.016;0.979;0.013	B;B;B;B;B;B;B;B;B;B;P;B	0.53313	0.005;0.017;0.059;0.137;0.016;0.043;0.117;0.018;0.275;0.006;0.723;0.013	T	0.16305	-1.0407	10	0.06891	T	0.86	-7.4996	11.371	0.49699	1.0:0.0:0.0:0.0	.	122;172;172;172;172;172;172;172;172;172;172;175	Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	L	172	ENSP00000378567:Q172L;ENSP00000395576:Q172L;ENSP00000353004:Q172L;ENSP00000394642:Q172L;ENSP00000268058:Q172L;ENSP00000378564:Q172L;ENSP00000268059:Q172L;ENSP00000315434:Q172L	ENSP00000268058:Q172L	Q	+	2	0	PML	72077783	0.007000	0.16637	0.027000	0.17364	0.818000	0.46254	1.506000	0.35747	1.726000	0.51525	0.459000	0.35465	CAG	PML	-	NULL	ENSG00000140464		0.632	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	-	0	14	0	A	NM_002675		74290730	1	tier1	-	no_errors	ENST00000268058	ensembl	human	known	74_37	missense	60.00	4	6	SNP	0.053	T	T	74290730	A	T	74290730	3	4	180	1	0	0	0	0	1	0	0	0	12174	188	7	5	521	5	PML	15	74290730	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	1708230	74290730	28240662	176	44835											
ALPK3	57538	genome.wustl.edu	37	chr15	85411669	85411669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccaagaggagggctccaaGgcccagggcatgcggtagcc	10	3	15	13	1	0	1	0	0	0	1	1	2	1	2	4	5	2	3	4	5	3	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr15:85411669G>C	ENST00000258888.5	+	14	5873	c.5706G>C	c.(5704-5706)aaG>aaC	p.K1902N		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1902					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)			AGGGCTCCAAGGCCCAGGGCA	0.617																																																	0													29	29	29					15																	85411669		2203	4299	6502	SO:0001583	missense	0			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.5706G>C	15.37:g.85411669G>C	ENSP00000258888:p.Lys1902Asn		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.K1902N	ENST00000258888.5	37	c.5706	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438990	0.63067	.	.	ENSG00000136383	ENST00000258888	T	0.64438	-0.1	4.47	3.56	0.40772	.	0.000000	0.42420	D	0.000702	T	0.73628	0.3611	M	0.65975	2.015	0.33443	D	0.582624	D;D	0.71674	0.99;0.998	P;D	0.76071	0.815;0.987	T	0.79988	-0.1571	10	0.87932	D	0	-27.0655	8.7212	0.34441	0.1068:0.0:0.8932:0.0	.	203;1902	B4DU37;Q96L96	.;ALPK3_HUMAN	N	1902	ENSP00000258888:K1902N	ENSP00000258888:K1902N	K	+	3	2	ALPK3	83212673	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	2.504000	0.45416	0.894000	0.36317	-0.368000	0.07277	AAG	ALPK3	-	NULL	ENSG00000136383		0.617	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0	118	0	G	NM_020778		85411669	1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	41.67	28	20	SNP	1.000	C	C	85411669	G	C	85411669	3	2	180	1	0	0	0	0	1	0	0	0	546	991	35	5	5760	5	ALPK3	15	85411669	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	11120939	85411669	17119723	177	44836											
IDH2	3418	genome.wustl.edu	37	chr15	90631610	90631610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcgtcggtgttgtacatgCccatgcccacgccgcctgcg	4	9	11	17	5	0	0	0	0	0	0	2	0	0	0	5	1	4	2	5	1	1	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr15:90631610C>T	ENST00000330062.3	-	5	772	c.659G>A	c.(658-660)gGc>gAc	p.G220D	IDH2_ENST00000540499.2_Missense_Mutation_p.G168D|IDH2_ENST00000559482.1_Missense_Mutation_p.G111D|IDH2_ENST00000539790.1_Missense_Mutation_p.G90D	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	220					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GTTGTACATGCCCATGCCCAC	0.582			M		GBM																																			Dom	yes		15	15q26.1	3418	"socitrate dehydrogenase 2 (NADP+), mitochondrial "		M	0													101	97	99					15																	90631610		2200	4298	6498	SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.659G>A	15.37:g.90631610C>T	ENSP00000331897:p.Gly220Asp		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	p.G220D	ENST00000330062.3	37	c.659	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612917	0.87258	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.68025	-0.3;-0.3;-0.3	5.8	5.8	0.92144	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.86657	0.5985	H	0.95402	3.665	0.80722	D	1	D;D	0.62365	0.991;0.99	P;D	0.64042	0.891;0.921	D	0.90124	0.4201	10	0.87932	D	0	.	17.553	0.87881	0.0:1.0:0.0:0.0	.	220;220	Q53GL5;P48735	.;IDHP_HUMAN	D	220;90;168	ENSP00000331897:G220D;ENSP00000438457:G90D;ENSP00000446147:G168D	ENSP00000331897:G220D	G	-	2	0	IDH2	88432614	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.461000	0.80834	2.747000	0.94245	0.462000	0.41574	GGC	IDH2	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	ENSG00000182054		0.582	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	HGNC	protein_coding	OTTHUMT00000313426.1	-	0	80	0	C			90631610	-1	tier1	-	no_errors	ENST00000330062	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	90631610	C	T	90631610	3	4	180	1	0	0	0	0	1	0	0	0	7522	739	26	3	727	3	IDH2	15	90631610	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	5219941	90631610	11899782	178	44837											
IQGAP1	8826	genome.wustl.edu	37	chr15	91025491	91025491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgagaagttccctgatgCtggtgaggatgagctgctga	9	10	15	7	0	0	5	0	5	0	1	1	7	1	6	1	2	3	5	1	2	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr15:91025491C>T	ENST00000268182.5	+	28	3657	c.3533C>T	c.(3532-3534)gCt>gTt	p.A1178V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A606V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1178	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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)			TTCCCTGATGCTGGTGAGGAT	0.493											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													114	99	104					15																	91025491		2198	4298	6496	SO:0001583	missense	0			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.3533C>T	15.37:g.91025491C>T	ENSP00000268182:p.Ala1178Val	1279	A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.A1178V	ENST00000268182.5	37	c.3533	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474170	0.84640	.	.	ENSG00000140575	ENST00000268182	T	0.80909	-1.43	6.17	6.17	0.99709	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.83229	0.5209	M	0.86573	2.825	0.80722	D	1	P	0.37441	0.595	B	0.33392	0.163	D	0.84336	0.0524	10	0.52906	T	0.07	-16.3266	18.0354	0.89301	0.0:1.0:0.0:0.0	.	1178	P46940	IQGA1_HUMAN	V	1178	ENSP00000268182:A1178V	ENSP00000268182:A1178V	A	+	2	0	IQGAP1	88826495	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.671000	0.83941	2.941000	0.99782	0.655000	0.94253	GCT	IQGAP1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000140575		0.493	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1		0	103	0	C	NM_003870		91025491	1			no_errors	ENST00000268182	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	91025491	C	T	91025491	3	4	180	1	0	0	0	0	1	0	0	0	7841	797	28	3	3643	3	IQGAP1	15	91025491	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	393881	91025491	11505901	179	44838											
USP31	57478	genome.wustl.edu	37	chr16	23093847	23093847	+	Missense_Mutation	SNP	T	T	C	0	1	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	cctgctgcagctgcttacagTgtgggcaacgccaggcatca	8	8	12	13	1	1	0	1	0	0	0	1	0	1	0	2	2	6	6	2	2	2	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr16:23093847T>C	ENST00000219689.7	-	12	1861	c.1862A>G	c.(1861-1863)cAc>cGc	p.H621R		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	272	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)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGCTTACAGTGTGGGCAACG	0.488																																																	0													89	77	81					16																	23093847		2197	4300	6497	SO:0001583	missense	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1862A>G	16.37:g.23093847T>C	ENSP00000219689:p.His621Arg		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.H621R	ENST00000219689.7	37	c.1862	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448942	0.84101	.	.	ENSG00000103404	ENST00000219689	T	0.02606	4.23	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	N	0.13140	0.3	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56366	-0.7991	10	0.39692	T	0.17	-13.6731	14.0254	0.64582	0.0:0.0:0.0:1.0	.	621	Q70CQ4	UBP31_HUMAN	R	621	ENSP00000219689:H621R	ENSP00000219689:H621R	H	-	2	0	USP31	23001348	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.616000	0.83018	1.953000	0.56701	0.528000	0.53228	CAC	USP31	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000103404		0.488	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	-	0	70	0	T	NM_020718		23093847	-1	tier1	-	no_errors	ENST00000219689	ensembl	human	known	74_37	missense	46.03	34	29	SNP	1.000	C	C	23093847	T	C	23093847	3	2	180	1	0	0	0	0	1	0	0	0	17111	1696	59	4	2216	4	USP31	16	23093847	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09		23093847	67260906	180	44839											
KIF22	3835	genome.wustl.edu	37	chr16	29814198	29814198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggcccctctgttgagtacCccaaagcgagagcggatggt	8	7	15	11	2	1	2	0	1	1	1	1	4	1	3	4	4	3	2	4	4	2	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr16:29814198C>T	ENST00000160827.4	+	9	1429	c.1389C>T	c.(1387-1389)acC>acT	p.T463T	KIF22_ENST00000400751.5_Silent_p.T395T|KIF22_ENST00000569382.2_Silent_p.T395T|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_Silent_p.T395T	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	463					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TGTTGAGTACCCCAAAGCGAG	0.577																																																	0													122	121	121					16																	29814198		2197	4300	6497	SO:0001819	synonymous_variant	0			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1389C>T	16.37:g.29814198C>T			B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T463	ENST00000160827.4	37	c.1389	CCDS10653.1	16																																																																																			KIF22	-	NULL	ENSG00000079616		0.577	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2		0	96	0	C			29814198	1			no_errors	ENST00000160827	ensembl	human	known	74_37	silent	5.15	92	5	SNP	0.998	T	T	29814198	C	T	29814198	2	4	180	1	0	0	0	0	0	0	0	1	8317	610	22	3		3	KIF22	16	29814198	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	6720351	29814198	60540555	181	44840											
MT1M	4499	genome.wustl.edu	37	chr16	56667702	56667702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtgggctgtgccaagtgtgCccacggctgtgtctgcaaag	6	9	15	11	2	1	0	0	0	1	0	1	0	1	0	2	2	3	3	2	2	2	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr16:56667702C>T	ENST00000379818.3	+	3	633	c.134C>T	c.(133-135)gCc>gTc	p.A45V	AC026461.1_ENST00000600389.1_5'Flank|MT1JP_ENST00000564564.1_RNA	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	45	Alpha.				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)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						GCCAAGTGTGCCCACGGCTGT	0.592																																																	0													126	129	128					16																	56667702		2198	4300	6498	SO:0001583	missense	0			AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364		"Metallothioneins"	14296	protein-coding gene	gene with protein product		156357	"metallothionein 1K"	MT1, MT1K		2286373, 8049263	Standard	NM_176870		Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.134C>T	16.37:g.56667702C>T	ENSP00000369146:p.Ala45Val		Q8TDN3	Missense_Mutation	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.A45V	ENST00000379818.3	37	c.134	CCDS42166.1	16	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281111	0.59758	.	.	ENSG00000205364	ENST00000379818	T	0.12147	2.71	2.41	1.37	0.22104	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.64402	U	0.000019	T	0.15696	0.0378	.	.	.	0.37862	D	0.929762	B	0.31209	0.313	B	0.40565	0.333	T	0.08249	-1.0731	9	0.87932	D	0	.	6.9645	0.24615	0.0:0.8502:0.0:0.1498	.	45	Q8N339	MT1M_HUMAN	V	45	ENSP00000369146:A45V	ENSP00000369146:A45V	A	+	2	0	MT1M	55225203	1.000000	0.71417	0.993000	0.49108	0.781000	0.44180	3.275000	0.51639	0.297000	0.22615	0.461000	0.40582	GCC	MT1M	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	ENSG00000205364		0.592	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1M	HGNC	protein_coding	OTTHUMT00000434359.1	-	0	99	0	C	NM_176870		56667702	1	tier1	-	no_errors	ENST00000379818	ensembl	human	known	74_37	missense	43.14	58	44	SNP	1.000	T	T	56667702	C	T	56667702	3	4	180	1	0	0	0	0	1	0	0	0	9941	739	26	3	144	3	MT1M	16	56667702	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	26853504	56667702	33687051	182	44841											
SLC9A5	6553	genome.wustl.edu	37	chr16	67298363	67298363	+	Missense_Mutation	SNP	A	A	T	1	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	ggctggagtcctttaagtccAccaagcacaacatctgcttc	10	10	8	13	0	1	0	0	0	1	0	4	1	3	1	3	2	3	3	3	2	3	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr16:67298363A>T	ENST00000299798.11	+	13	2016	c.1951A>T	c.(1951-1953)Acc>Tcc	p.T651S	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	651					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)		CTTTAAGTCCACCAAGCACAA	0.592																																																	0													43	49	47					16																	67298363		2149	4259	6408	SO:0001583	missense	0				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.1951A>T	16.37:g.67298363A>T	ENSP00000299798:p.Thr651Ser		A5PKY7|Q9Y626	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.T651S	ENST00000299798.11	37	c.1951	CCDS42178.1	16	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033863	0.54896	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.56776	0.44	5.06	5.06	0.68205	.	0.069335	0.56097	D	0.000023	T	0.61527	0.2354	L	0.39898	1.24	0.48341	D	0.999632	D;B	0.71674	0.998;0.259	D;B	0.80764	0.994;0.039	T	0.56117	-0.8032	10	0.19590	T	0.45	.	14.2915	0.66281	1.0:0.0:0.0:0.0	.	164;651	F8WDV9;Q14940	.;SL9A5_HUMAN	S	651;164	ENSP00000299798:T651S	ENSP00000299798:T651S	T	+	1	0	SLC9A5	65855864	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.742000	0.74843	2.030000	0.59900	0.459000	0.35465	ACC	SLC9A5	-	NULL	ENSG00000135740		0.592	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	-	0	108	0	A			67298363	1	tier1	-	no_errors	ENST00000299798	ensembl	human	known	74_37	missense	10.99	79	10	SNP	1.000	T	T	67298363	A	T	67298363	3	4	180	1	0	0	0	0	1	0	0	0	14762	159	6	5	2001	5	SLC9A5	16	67298363	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	10630661	67298363	23056390	183	44842											
HYDIN	54768	genome.wustl.edu	37	chr16	70995941	70995941	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactcgaccaacagggcgtgCcattcttccaggttggatgt	8	10	12	11	2	1	0	0	0	1	0	3	3	2	1	3	3	2	1	3	3	1	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr16:70995941C>T	ENST00000393567.2	-	38	6039	c.5889G>A	c.(5887-5889)tgG>tgA	p.W1963*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1963					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)				ACAGGGCGTGCCATTCTTCCA	0.468																																																	0													14	22	20					16																	70995941		1773	4018	5791	SO:0001587	stop_gained	0			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.5889G>A	16.37:g.70995941C>T	ENSP00000377197:p.Trp1963*		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.W1963*	ENST00000393567.2	37	c.5889	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	45	11.370455	0.99552	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	4.32	-3.34	0.04943	.	0.618847	0.11646	U	0.543333	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	5.347	0.16014	0.0:0.2546:0.4521:0.2933	.	.	.	.	X	1963;1962	.	ENSP00000310485:W254X	W	-	3	0	HYDIN	69553442	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.817000	0.04472	-0.187000	0.10516	-0.430000	0.05897	TGG	HYDIN	-	NULL	ENSG00000157423		0.468	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3		0	22	0	C			70995941	-1			no_errors	ENST00000393567	ensembl	human	putative	74_37	nonsense	12.00	22	3	SNP	0.000	T	T	70995941	C	T	70995941	4	4	180	1	0	0	0	0	0	1	0	0	7494	740	26	3	9672	3	HYDIN	16	70995941	Nonsense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	3697578	70995941	19358812	184	44843											
TP53	7157	genome.wustl.edu	37	chr17	7579369	7579369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccagacggaaaccgtaGctgccctggtaggttttctg	9	9	12	11	2	1	1	0	0	1	1	1	2	1	2	3	3	4	4	3	3	4	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:7579369G>C	ENST00000269305.4	-	4	507	c.318C>G	c.(316-318)agC>agG	p.S106R	TP53_ENST00000455263.2_Missense_Mutation_p.S106R|TP53_ENST00000359597.4_Missense_Mutation_p.S106R|TP53_ENST00000445888.2_Missense_Mutation_p.S106R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.S106R|TP53_ENST00000413465.2_Missense_Mutation_p.S106R	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	106	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		S -> G (in a sporadic cancer; somatic mutation).|S -> R (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.S106R(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(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)	GGAAACCGTAGCTGCCCTGGT	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"	27	Deletion - Frameshift(12)|Whole gene deletion(8)|Substitution - Missense(3)|Complex - deletion inframe(2)|Deletion - In frame(2)	upper_aerodigestive_tract(5)|bone(4)|large_intestine(3)|ovary(3)|breast(3)|central_nervous_system(2)|lung(2)|liver(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	GRCh37	CM013441	TP53	M							58	57	57					17																	7579369		2203	4300	6503	SO:0001583	missense	0	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.318C>G	17.37:g.7579369G>C	ENSP00000269305:p.Ser106Arg		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.S106R	ENST00000269305.4	37	c.318	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	9.949	1.219579	0.22373	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	4.75	2.77	0.32553	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	1.175280	0.05775	N	0.607434	D	0.99133	0.9701	L	0.38175	1.15	0.28839	N	0.896688	B;P;B;B;B;B;B	0.34615	0.305;0.459;0.042;0.005;0.086;0.029;0.313	B;B;B;B;B;B;B	0.43103	0.107;0.408;0.117;0.007;0.186;0.186;0.061	D	0.99992	1.4503	10	0.40728	T	0.16	-0.4975	9.0942	0.36629	0.1857:0.0:0.8143:0.0	.	67;106;106;106;106;106;106	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	106	ENSP00000410739:S106R;ENSP00000352610:S106R;ENSP00000269305:S106R;ENSP00000398846:S106R;ENSP00000391127:S106R;ENSP00000391478:S106R;ENSP00000424104:S106R;ENSP00000426252:S106R	ENSP00000269305:S106R	S	-	3	2	TP53	7520094	0.247000	0.23920	0.636000	0.29352	0.532000	0.34746	0.437000	0.21543	1.364000	0.46038	0.655000	0.94253	AGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	116	0	G	NM_000546		7579369	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	68.54	28	61	SNP	0.564	C	C	7579369	G	C	7579369	3	2	180	1	0	0	0	0	1	0	0	0	16429	962	34	5	984	5	TP53	17	7579369	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09		7579369	73615841	185	44844											
LHX1	3975	genome.wustl.edu	37	chr17	35299500	35299500	+	Missense_Mutation	SNP	T	T	G	0	1	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	gccgccatgtgctgcaggtcTggttccagaaccggcgctcc	5	8	13	15	3	1	1	0	0	1	1	3	1	3	1	5	3	3	4	5	3	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:35299500T>G	ENST00000254457.5	+	4	2090	c.679T>G	c.(679-681)Tgg>Ggg	p.W227G	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	227					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)				GCTGCAGGTCTGGTTCCAGAA	0.731																																																	0													7	10	9					17																	35299500		2152	4229	6381	SO:0001583	missense	0			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.679T>G	17.37:g.35299500T>G	ENSP00000254457:p.Trp227Gly		Q3MIW0	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.W227G	ENST00000254457.5	37	c.679	CCDS11316.1	17	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700325	0.88924	.	.	ENSG00000132130	ENST00000254457	D	0.99822	-6.94	4.07	4.07	0.47477	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.99871	0.9939	H	0.99565	4.63	0.80722	D	1	P	0.38020	0.615	P	0.50617	0.646	D	0.95680	0.8731	10	0.87932	D	0	.	12.2689	0.54695	0.0:0.0:0.0:1.0	.	227	P48742	LHX1_HUMAN	G	227	ENSP00000254457:W227G	ENSP00000254457:W227G	W	+	1	0	LHX1	32373613	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.839000	0.86812	2.070000	0.61991	0.402000	0.26972	TGG	LHX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000132130		0.731	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LHX1	HGNC	protein_coding	OTTHUMT00000256704.3		0	10	0	T	NM_005568		35299500	1			no_errors	ENST00000254457	ensembl	human	known	74_37	missense	50.00	3	3	SNP	1.000	G	G	35299500	T	G	35299500	3	3	180	1	0	0	0	0	1	0	0	0	8799	1580	55	4	693	4	LHX1	17	35299500	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	27720131	35299500	45895710	186	44845											
SYNRG	11276	genome.wustl.edu	37	chr17	35913272	35913273	+	Frame_Shift_Ins	INS	-	-	A																															aatccaaagagctatcagacINSatgacatgcttaagatctcc																								rs370574307		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:35913272_35913273insA	ENST00000339208.6	-	14	2692_2693	c.2552_2553insT	c.(2551-2553)atgfs	p.M851fs	SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.M773fs|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.M772fs|SYNRG_ENST00000588194.1_5'Flank|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.M773fs|SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.M773fs|SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.M851fs|SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.M690fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	851					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						AGCTATCAGACATGACATGCTT	0.47																																																	0																																										SO:0001589	frameshift_variant	0			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.2553dupT	17.37:g.35913273_35913273dupA	ENSP00000343610:p.Met851fs		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Frame_Shift_Ins	INS	smart_EPS15_homology,pfscan_EPS15_homology	p.M851fs	ENST00000339208.6	37	c.2553_2552	CCDS11321.1	17																																																																																			SYNRG	-	NULL	ENSG00000006114		0.47	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2		0	57	0	-	NM_007247		35913273	-1	tier1		no_errors	ENST00000339208	ensembl	human	known	74_37	frame_shift_ins	18.18	36	8	INS	1.000:1.000	A	A	35913273	-	A	35913272	7	5	180	1	0	1	1	0	0	0	0	0	15507	478	17	0	1500	0	SYNRG	17	35913272	Frame_Shift_Ins	INS	-	TCGA-XP-A8T8-01A-11D-A36J-09	613772	35913272	45281938	187	44846											
KRT10	3858	genome.wustl.edu	37	chr17	38975181	38975181	+	Missense_Mutation	SNP	C	C	T																															gtagccgccgccgccgccgcCggaactgccaccaccgtagc																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:38975181C>T	ENST00000269576.5	-	7	1615	c.1606G>A	c.(1606-1608)Ggc>Agc	p.G536S	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	536	Gly-rich.|Ser-rich.|Tail.				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)				ccgccgccgccggaactgcca	0.786																																																	0													1	1	1					17																	38975181		161	485	646	SO:0001583	missense	0			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.1606G>A	17.37:g.38975181C>T	ENSP00000269576:p.Gly536Ser		Q14664|Q8N175	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.G536S	ENST00000269576.5	37	c.1606	CCDS11377.1	17	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996632	0.54147	.	.	ENSG00000186395	ENST00000269576	D	0.94966	-3.57	5.35	-7.25	0.01470	.	1.185270	0.06423	N	0.722740	D	0.85062	0.5611	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.10450	0.005	T	0.73820	-0.3862	10	0.87932	D	0	.	9.4203	0.38548	0.0:0.2367:0.1134:0.6499	.	536	P13645	K1C10_HUMAN	S	536	ENSP00000269576:G536S	ENSP00000269576:G536S	G	-	1	0	KRT10	36228707	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.568000	0.05909	-1.474000	0.01879	-0.310000	0.09108	GGC	KRT10	-	NULL	ENSG00000186395		0.786	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	-	0	14	0	C	NM_000421		38975181	-1	tier1	-	no_errors	ENST00000269576	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.000	T	T	38975181	C	T	38975181	3	4	180	1	0	0	0	0	1	0	0	0	8475	652	23	1	156	1	KRT10	17	38975181	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	3061909	38975181	42220029	188	44847	154	2									
KRT10	3858	genome.wustl.edu	37	chr17	38975189	38975191	+	In_Frame_Del	DEL	CCA	CCA	-																															cgccgccgccgccggaactgCcaccaccgtagccgccgctg																								rs184159044	byFrequency	TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	CCA	CCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:38975189_38975191delCCA	ENST00000269576.5	-	7	1605_1607	c.1596_1598delTGG	c.(1594-1599)ggtggc>ggc	p.532_533GG>G	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	532	Gly-rich.|Ser-rich.|Tail.				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)				gccggaactgccaccaccgtagc	0.798																																																	0																																										SO:0001651	inframe_deletion	0			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.1596_1598delTGG	17.37:g.38975192_38975194delCCA	ENSP00000269576:p.Gly533del		Q14664|Q8N175	In_Frame_Del	DEL	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.G533in_frame_del	ENST00000269576.5	37	c.1598_1596	CCDS11377.1	17																																																																																			KRT10	-	NULL	ENSG00000186395		0.798	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1		0	13	0	CCA	NM_000421		38975191	-1	tier1		no_errors	ENST00000269576	ensembl	human	known	74_37	in_frame_del	29.17	17	7	DEL	0.021:0.020:0.013	-	-	38975191	CCA	-	38975189	7	5	180	1	0	1	0	1	0	0	0	0	8475	739	26	0	164	0	KRT10	17	38975189	In_Frame_Del	DEL	CCA	TCGA-XP-A8T8-01A-11D-A36J-09	8	38975189	42220021	189	44848	154	2									
EFTUD2	9343	genome.wustl.edu	37	chr17	42953336	42953336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctcatccacaatgtggcGcagcttgtaataagcatcag	12	9	9	11	1	2	0	2	0	0	0	3	1	3	0	2	1	2	4	2	1	3	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:42953336G>A	ENST00000426333.2	-	10	1132	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	EFTUD2_ENST00000592576.1_Missense_Mutation_p.R269C|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R279C|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R244C	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	279	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ACAATGTGGCGCAGCTTGTAA	0.512																																					Ovarian(10;65 485 10258 29980 30707)												0													197	183	188					17																	42953336		2203	4300	6503	SO:0001583	missense	0			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.835C>T	17.37:g.42953336G>A	ENSP00000392094:p.Arg279Cys		B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.R279C	ENST00000426333.2	37	c.835	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534242	0.64972	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.77750	-1.12;-1.12	4.96	4.96	0.65561	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65140	0.932;0.932	D	0.85331	0.1090	10	0.59425	D	0.04	-10.7074	14.8502	0.70292	0.0:0.0:0.8561:0.1438	.	269;279	B4DMC0;Q15029	.;U5S1_HUMAN	C	279;269;244	ENSP00000392094:R279C;ENSP00000385873:R244C	ENSP00000262414:R269C	R	-	1	0	EFTUD2	40308862	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.300000	0.59079	2.589000	0.87451	0.591000	0.81541	CGC	EFTUD2	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000108883		0.512	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1		0	89	0	G	NM_004247		42953336	-1			no_errors	ENST00000426333	ensembl	human	known	74_37	missense	6.25	44	3	SNP	1.000	A	A	42953336	G	A	42953336	3	1	180	1	0	0	0	0	1	0	0	0	4975	1087	38	1	2159	1	EFTUD2	17	42953336	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	3978147	42953336	38241874	190	44849											
ACBD4	79777	genome.wustl.edu	37	chr17	43213937	43213937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggccaccatggggccCtgcctggtcccccggcccgg	5	4	14	18	2	0	0	0	0	0	0	1	0	1	0	7	6	2	1	7	6	1	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:43213937C>T	ENST00000376955.4	+	3	456	c.159C>T	c.(157-159)ccC>ccT	p.P53P	ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000586346.1_Silent_p.P53P|ACBD4_ENST00000592162.1_Silent_p.P53P|ACBD4_ENST00000591859.1_Silent_p.P53P|ACBD4_ENST00000321854.8_Silent_p.P53P|ACBD4_ENST00000398322.3_Silent_p.P53P|ACBD4_ENST00000431281.1_Silent_p.P53P	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	53	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						CCATGGGGCCCTGCCTGGTCC	0.602																																																	0													58	65	63					17																	43213937		1883	4096	5979	SO:0001819	synonymous_variant	0			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.159C>T	17.37:g.43213937C>T			D3DX64|Q8IUT1|Q9H8Q4	Silent	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.P53	ENST00000376955.4	37	c.159	CCDS45711.1	17																																																																																			ACBD4	-	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein	ENSG00000181513		0.602	ACBD4-006	KNOWN	basic|CCDS	protein_coding	ACBD4	HGNC	protein_coding	OTTHUMT00000449816.1	-	0	103	0	C	NM_024722		43213937	1	tier1	-	no_errors	ENST00000431281	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	T	T	43213937	C	T	43213937	2	4	180	1	0	0	0	0	0	0	0	1	124	668	24	3		3	ACBD4	17	43213937	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	260601	43213937	37981273	191	44850											
CDC27	996	genome.wustl.edu	37	chr17	45247389	45247389	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacactccaccagataagaTttgttccccttctgcaagcc	12	10	5	14	0	1	2	0	0	1	2	3	2	3	2	5	0	3	2	5	0	3	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:45247389T>A	ENST00000066544.3	-	4	364	c.271A>T	c.(271-273)Atc>Ttc	p.I91F	CDC27_ENST00000527547.1_Missense_Mutation_p.I91F|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000446365.2_Missense_Mutation_p.I30F|CDC27_ENST00000531206.1_Missense_Mutation_p.I91F|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					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.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323																																																	1	Deletion - Frameshift(1)	ovary(1)											84	94	91					17																	45247389		2203	4299	6502	SO:0001583	missense	0			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.271A>T	17.37:g.45247389T>A	ENSP00000066544:p.Ile91Phe		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I91F	ENST00000066544.3	37	c.271	CCDS11509.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.182940|4.182940	0.78677|0.78677	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866|ENST00000533415	T;T;T;T;T|.	0.73897|.	-0.79;-0.79;-0.11;-0.79;-0.79|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Tetratricopeptide-like helical (1);|.	0.059487|.	0.64402|.	D|.	0.000002|.	T|T	0.54095|0.54095	0.1837|0.1837	N|N	0.20986|0.20986	0.625|0.625	0.58432|0.58432	D|D	0.999998|0.999998	P;P;P;P|.	0.50272|.	0.855;0.865;0.933;0.889|.	B;P;P;P|.	0.48982|.	0.212;0.485;0.571;0.597|.	T|T	0.59156|0.59156	-0.7507|-0.7507	10|6	0.46703|0.62326	T|D	0.11|0.03	-26.5081|-26.5081	13.5832|13.5832	0.61915|0.61915	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	30;91;91;91|.	B4DL80;G5EA36;G3V1C4;P30260|.	.;.;.;CDC27_HUMAN|.	F|N	91;91;30;91;91|41	ENSP00000066544:I91F;ENSP00000434614:I91F;ENSP00000392802:I30F;ENSP00000437339:I91F;ENSP00000432105:I91F|.	ENSP00000066544:I91F|ENSP00000432211:K41N	I|K	-|-	1|3	0|2	CDC27|CDC27	42602388|42602388	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.952000|5.952000	0.70282|0.70282	2.152000|2.152000	0.67230|0.67230	0.533000|0.533000	0.62120|0.62120	ATC|AAA	CDC27	-	NULL	ENSG00000004897		0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2		0	94	0	T			45247389	-1			no_errors	ENST00000531206	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	45247389	T	A	45247389	3	1	180	1	0	0	0	0	1	0	0	0	3073	1493	52	5	2285	5	CDC27	17	45247389	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	2033452	45247389	35947821	192	44851											
AKAP1	8165	genome.wustl.edu	37	chr17	55183839	55183839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatagaaatgaggagggcttGgatagaaatgaggagattaa	17	8	15	1	0	0	5	0	2	0	3	0	9	0	7	0	4	0	1	0	4	5	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:55183839G>T	ENST00000337714.3	+	2	1247	c.1014G>T	c.(1012-1014)ttG>ttT	p.L338F	AKAP1_ENST00000571629.1_Missense_Mutation_p.L338F|AKAP1_ENST00000539273.1_Missense_Mutation_p.L338F|AKAP1_ENST00000314126.3_Missense_Mutation_p.L338F|AKAP1_ENST00000572557.1_Missense_Mutation_p.L338F	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	338					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGGAGGGCTTGGATAGAAATG	0.498																																																	0													99	105	103					17																	55183839		2203	4300	6503	SO:0001583	missense	0			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1014G>T	17.37:g.55183839G>T	ENSP00000337736:p.Leu338Phe		A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.L338F	ENST00000337714.3	37	c.1014	CCDS11594.1	17	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131066	0.77549	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.26957	2.11;1.7;2.11	5.72	3.56	0.40772	.	0.991061	0.08201	N	0.982336	T	0.13500	0.0327	N	0.14661	0.345	0.09310	N	1	P	0.41265	0.744	B	0.34038	0.174	T	0.08330	-1.0727	10	0.26408	T	0.33	2.5741	8.3882	0.32512	0.2284:0.0:0.7716:0.0	.	338	Q92667	AKAP1_HUMAN	F	338;338;380;338	ENSP00000337736:L338F;ENSP00000314075:L338F;ENSP00000443139:L338F	ENSP00000314075:L338F	L	+	3	2	AKAP1	52538838	0.086000	0.21541	0.018000	0.16275	0.957000	0.61999	0.526000	0.22971	1.413000	0.46997	0.561000	0.74099	TTG	AKAP1	-	NULL	ENSG00000121057		0.498	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP1	HGNC	protein_coding	OTTHUMT00000277069.1	-	0	76	0	G			55183839	1	tier1	-	no_errors	ENST00000337714	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.017	T	T	55183839	G	T	55183839	3	4	180	1	0	0	0	0	1	0	0	0	445	1339	47	3	1016	3	AKAP1	17	55183839	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	9936450	55183839	26011371	193	44852											
RNFT1	51136	genome.wustl.edu	37	chr17	58040592	58040592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctacgattggcttgcatgGcccttaaatactttttctct	7	16	8	10	1	1	0	0	0	1	0	2	1	1	0	1	3	3	3	1	3	4	7			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:58040592G>A	ENST00000305783.8	-	2	165	c.110C>T	c.(109-111)gCc>gTc	p.A37V	RP11-178C3.1_ENST00000591035.1_Intron|RP11-178C3.2_ENST00000586209.1_lincRNA|RNFT1_ENST00000442346.2_5'UTR	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	37						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			GGCTTGCATGGCCCTTAAATA	0.443																																																	0													83	77	79					17																	58040592		2203	4300	6503	SO:0001583	missense	0			BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"RING-type (C3HC4) zinc fingers"	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.110C>T	17.37:g.58040592G>A	ENSP00000304670:p.Ala37Val		Q8N7D0|Q96IZ9|Q9Y686	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A37V	ENST00000305783.8	37	c.110	CCDS11622.2	17	.	.	.	.	.	.	.	.	.	.	G	2.192	-0.385112	0.04966	.	.	ENSG00000189050	ENST00000305783	T	0.38887	1.11	5.23	0.86	0.19042	.	2.016500	0.05390	N	0.538880	T	0.16085	0.0387	N	0.00926	-1.1	0.80722	D	1	B;B;B	0.11235	0.003;0.004;0.0	B;B;B	0.11329	0.006;0.006;0.001	T	0.26224	-1.0109	10	0.12766	T	0.61	5.5431	8.8775	0.35354	0.374:0.0:0.626:0.0	.	37;37;37	B4DHL4;Q5M7Z0-2;Q5M7Z0	.;.;RNFT1_HUMAN	V	37	ENSP00000304670:A37V	ENSP00000304670:A37V	A	-	2	0	RNFT1	55395374	0.979000	0.34478	0.682000	0.30024	0.094000	0.18550	1.188000	0.32102	-0.093000	0.12396	0.585000	0.79938	GCC	RNFT1	-	NULL	ENSG00000189050		0.443	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT1	HGNC	protein_coding	OTTHUMT00000308958.1		0	65	0	G	NM_016125		58040592	-1			no_errors	ENST00000305783	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.799	A	A	58040592	G	A	58040592	3	1	180	1	0	0	0	0	1	0	0	0	13546	1203	42	3	1229	3	RNFT1	17	58040592	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	2856753	58040592	23154618	194	44853											
SDK2	54549	genome.wustl.edu	37	chr17	71429905	71429905	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctggtcggggcgccccCgaggtctcacatgctagcac	7	7	13	14	3	1	0	1	0	1	0	3	1	1	0	2	4	3	3	2	4	2	2	rs142980422		TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:71429905C>A	ENST00000392650.3	-	10	1278	c.1278G>T	c.(1276-1278)tcG>tcT	p.S426S	SDK2_ENST00000388726.3_Silent_p.S426S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	426	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S426S(1)		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						GGGGCGCCCCCGAGGTCTCAC	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											48	37	41					17																	71429905		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1278G>T	17.37:g.71429905C>A			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S426	ENST00000392650.3	37	c.1278	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223358	0.22457	.	.	ENSG00000069188	ENST00000416616	.	.	.	4.8	0.197	0.15164	.	.	.	.	.	T	0.42200	0.1192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24693	-1.0153	4	.	.	.	.	1.916	0.03297	0.1267:0.4259:0.1243:0.3231	.	.	.	.	W	331	.	.	G	-	1	0	SDK2	68941500	0.001000	0.12720	0.999000	0.59377	0.931000	0.56810	-1.934000	0.01552	0.181000	0.19994	-0.379000	0.06801	GGG	SDK2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000069188		0.567	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2		0	46	0	C	NM_019064		71429905	-1			no_errors	ENST00000392650	ensembl	human	known	74_37	silent	8.33	32	3	SNP	0.982	A	A	71429905	C	A	71429905	2	1	180	1	0	0	0	0	0	0	0	1	14014	639	23	2		2	SDK2	17	71429905	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	13389313	71429905	9765305	195	44854											
RNF213	57674	genome.wustl.edu	37	chr17	78353431	78353431	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctagtgtggcaggccGatggaacagagcatctgcat	10	8	12	11	1	2	1	1	0	1	1	2	3	2	2	2	3	3	3	2	3	2	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:78353431G>T	ENST00000582970.1	+	55	13700	c.13557G>T	c.(13555-13557)ccG>ccT	p.P4519P	RNF213_ENST00000336301.6_Silent_p.P2592P|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.P4568P|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4519					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)	p.P2592P(1)|p.P4568P(1)		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)			GTGGCAGGCCGATGGAACAGA	0.502																																																	2	Substitution - coding silent(2)	urinary_tract(2)											118	109	112					17																	78353431		2203	4300	6503	SO:0001819	synonymous_variant	0			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.13557G>T	17.37:g.78353431G>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.P4519	ENST00000582970.1	37	c.13557	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.502	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	53	0	G	NM_020914		78353431	1			no_errors	ENST00000582970	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.145	T	T	78353431	G	T	78353431	2	4	180	1	0	0	0	0	0	0	0	1	13522	1045	37	2		2	RNF213	17	78353431	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	6923526	78353431	2841779	196	44855											
RPTOR	57521	genome.wustl.edu	37	chr17	78765283	78765283	+	Silent	SNP	T	T	C	0	1	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	aaatgtgtcagtctggtgccTggcgtcacactggatttgat	8	13	12	8	1	3	1	2	1	1	0	3	2	3	2	1	3	1	0	1	3	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr17:78765283T>C	ENST00000306801.3	+	7	1226	c.864T>C	c.(862-864)ccT>ccC	p.P288P	RPTOR_ENST00000570891.1_Silent_p.P288P|RPTOR_ENST00000537330.1_Silent_p.P103P|RPTOR_ENST00000544334.2_Silent_p.P288P|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	288					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						GTCTGGTGCCTGGCGTCACAC	0.433																																																	0													197	182	187					17																	78765283		2203	4300	6503	SO:0001819	synonymous_variant	0				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.864T>C	17.37:g.78765283T>C			B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.P288	ENST00000306801.3	37	c.864	CCDS11773.1	17																																																																																			RPTOR	-	NULL	ENSG00000141564		0.433	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	-	0	80	0	T	NM_020761		78765283	1	tier1	-	no_errors	ENST00000306801	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.861	C	C	78765283	T	C	78765283	2	2	180	1	0	0	0	0	0	0	0	1	13710	1567	55	4		4	RPTOR	17	78765283	Silent	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	411852	78765283	2429927	197	44856											
DSG1	1828	genome.wustl.edu	37	chr18	28914092	28914092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtaattttctttatctCtggaaatgaaggaaattggt	12	15	10	4	0	2	1	0	1	2	0	3	3	2	3	0	4	0	2	0	4	5	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr18:28914092C>A	ENST00000257192.4	+	8	1144	c.932C>A	c.(931-933)tCt>tAt	p.S311Y		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	311	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTCTTTATCTCTGGAAATGAA	0.294																																																	0													66	75	72					18																	28914092		2202	4293	6495	SO:0001583	missense	0			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.932C>A	18.37:g.28914092C>A	ENSP00000257192:p.Ser311Tyr		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.S311Y	ENST00000257192.4	37	c.932	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531250	0.85706	.	.	ENSG00000134760	ENST00000257192	T	0.43294	0.95	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.093242	0.47852	D	0.000206	T	0.75302	0.3831	M	0.94101	3.495	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.81364	-0.0966	10	0.87932	D	0	.	20.0417	0.97594	0.0:1.0:0.0:0.0	.	311	Q02413	DSG1_HUMAN	Y	311	ENSP00000257192:S311Y	ENSP00000257192:S311Y	S	+	2	0	DSG1	27168090	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.459000	0.73513	2.736000	0.93811	0.655000	0.94253	TCT	DSG1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000134760		0.294	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	-	0	120	0	C	NM_001942		28914092	1	tier1	-	no_errors	ENST00000257192	ensembl	human	known	74_37	missense	5.88	80	5	SNP	1.000	A	A	28914092	C	A	28914092	3	1	180	1	0	0	0	0	1	0	0	0	4790	913	32	3	962	3	DSG1	18	28914092	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09		28914092	49163156	198	44857											
CDH20	28316	genome.wustl.edu	37	chr18	59195231	59195231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaagcaagaaaagctacaCcttaaaggtggagggagcca	17	5	12	7	0	0	2	0	1	0	1	0	4	0	4	2	3	4	2	2	3	7	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr18:59195231C>A	ENST00000262717.4	+	7	1447	c.1049C>A	c.(1048-1050)aCc>aAc	p.T350N	CDH20_ENST00000538374.1_Missense_Mutation_p.T350N|CDH20_ENST00000536675.2_Missense_Mutation_p.T350N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	350	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AAAAGCTACACCTTAAAGGTG	0.443																																																	0													81	75	77					18																	59195231		2203	4300	6503	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1049C>A	18.37:g.59195231C>A	ENSP00000262717:p.Thr350Asn		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T350N	ENST00000262717.4	37	c.1049	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542854	0.86022	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.50813	0.73;0.73;0.73	5.88	5.88	0.94601	Cadherin (5);Cadherin-like (1);	0.096640	0.64402	D	0.000001	T	0.60573	0.2279	L	0.59436	1.845	0.80722	D	1	P	0.35011	0.48	P	0.46510	0.519	T	0.59888	-0.7369	10	0.72032	D	0.01	.	20.2884	0.98536	0.0:1.0:0.0:0.0	.	350	Q9HBT6	CAD20_HUMAN	N	350	ENSP00000444767:T350N;ENSP00000442226:T350N;ENSP00000262717:T350N	ENSP00000262717:T350N	T	+	2	0	CDH20	57346211	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.727000	0.68523	2.791000	0.96007	0.650000	0.86243	ACC	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000101542		0.443	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	-	0	54	0	C	NM_031891		59195231	1	tier1	-	no_errors	ENST00000262717	ensembl	human	known	74_37	missense	57.14	9	12	SNP	1.000	A	A	59195231	C	A	59195231	3	1	180	1	0	0	0	0	1	0	0	0	3113	507	18	3	1071	3	CDH20	18	59195231	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	30281139	59195231	18882017	199	44858											
FBXO15	201456	genome.wustl.edu	37	chr18	71814970	71814970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgggcccgcgcagcgtCtggaggccgagccagtgctg	4	6	17	14	4	1	0	0	0	1	0	1	2	1	1	3	3	4	3	3	3	0	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr18:71814970C>G	ENST00000419743.2	-	1	130	c.51G>C	c.(49-51)caG>caC	p.Q17H	FBXO15_ENST00000269500.5_5'UTR|TIMM21_ENST00000169551.6_5'Flank|TIMM21_ENST00000580087.1_5'Flank	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	17						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CGCGCAGCGTCTGGAGGCCGA	0.711																																																	0													6	8	7					18																	71814970		674	1563	2237	SO:0001583	missense	0			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.51G>C	18.37:g.71814970C>G	ENSP00000393154:p.Gln17His		B3KST3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.Q17H	ENST00000419743.2	37	c.51	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449451	0.26074	.	.	ENSG00000141665	ENST00000419743	T	0.45668	0.89	3.84	3.84	0.44239	.	.	.	.	.	T	0.29389	0.0732	N	0.08118	0	0.80722	D	1	D	0.58620	0.983	P	0.47075	0.536	T	0.24333	-1.0163	9	0.56958	D	0.05	.	13.1477	0.59472	0.0:1.0:0.0:0.0	.	17	B3KST3	.	H	17	ENSP00000393154:Q17H	ENSP00000393154:Q17H	Q	-	3	2	FBXO15	69965950	0.060000	0.20803	0.019000	0.16419	0.019000	0.09904	1.193000	0.32162	2.163000	0.67991	0.557000	0.71058	CAG	FBXO15	-	NULL	ENSG00000141665		0.711	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	-	0	54	0	C	NM_152676		71814970	-1	tier1	-	no_errors	ENST00000419743	ensembl	human	known	74_37	missense	40.91	12	9	SNP	0.009	G	G	71814970	C	G	71814970	3	3	180	1	0	0	0	0	1	0	0	0	5750	912	32	5	1521	5	FBXO15	18	71814970	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	12619739	71814970	6262278	200	44859											
C19orf21	126353	genome.wustl.edu	37	chr19	757175	757175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcatgcctacactggccagCcgtccccacgggggctccac	6	6	11	18	2	0	0	0	0	0	0	2	0	2	0	6	3	4	2	6	3	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:757175C>T	ENST00000215582.6	+	2	332	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	77					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CACTGGCCAGCCGTCCCCACG	0.682																																																	0													50	48	49					19																	757175		2203	4297	6500	SO:0001583	missense	0			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.229C>T	19.37:g.757175C>T	ENSP00000215582:p.Pro77Ser			Missense_Mutation	SNP	NULL	p.P77S	ENST00000215582.6	37	c.229	CCDS12042.1	19	.	.	.	.	.	.	.	.	.	.	C	2.257	-0.370095	0.05069	.	.	ENSG00000099812	ENST00000215582	T	0.74842	-0.88	4.1	0.592	0.17471	.	2.471570	0.02043	N	0.049418	T	0.58192	0.2105	L	0.29908	0.895	0.09310	N	1	B	0.29037	0.231	B	0.22152	0.038	T	0.40403	-0.9565	10	0.09338	T	0.73	-3.8356	4.9619	0.14070	0.169:0.6361:0.0:0.1949	.	77	Q8IVT2	CS021_HUMAN	S	77	ENSP00000215582:P77S	ENSP00000215582:P77S	P	+	1	0	C19orf21	708175	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.549000	0.06041	0.307000	0.22880	0.313000	0.20887	CCG	MISP	-	NULL	ENSG00000099812		0.682	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MISP	HGNC	protein_coding	OTTHUMT00000457600.2		0	127	0	C	NM_173481		757175	1			no_errors	ENST00000215582	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	T	T	757175	C	T	757175	3	4	180	1	0	0	0	0	1	0	0	0	1920	739	26	3	231	3	C19orf21	19	757175	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09		757175	58371808	201	44860											
HMG20B	10362	genome.wustl.edu	37	chr19	3576972	3576972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgcagaggcacacgcaGagcatgagcagcgcgcgcga	11	3	15	12	5	0	3	0	1	0	2	0	4	0	3	0	1	5	6	0	1	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:3576972G>T	ENST00000333651.6	+	8	750	c.675G>T	c.(673-675)caG>caT	p.Q225H		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	225					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCACACGCAGAGCATGAGCA	0.711																																																	0													10	12	11					19																	3576972		2127	4226	6353	SO:0001583	missense	0			BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"High mobility group / Non-canonical"	5002	protein-coding gene	gene with protein product	"HMG box domain containing 2"	605535	"high-mobility group 20B"			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.675G>T	19.37:g.3576972G>T	ENSP00000328269:p.Gln225His		A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Q225H	ENST00000333651.6	37	c.675	CCDS45919.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.0|25.0	4.588158|4.588158	0.86851|0.86851	.|.	.|.	ENSG00000064961|ENSG00000064961	ENST00000402569|ENST00000333651;ENST00000262949	.|T	.|0.68181	.|-0.31	4.21|4.21	4.21|4.21	0.49690|0.49690	.|.	.|0.465133	.|0.19445	.|U	.|0.114098	.|T	.|0.62672	.|0.2447	L|L	0.44542|0.44542	1.39|1.39	0.33309|0.33309	D|D	0.565824|0.565824	.|P;P	.|0.44986	.|0.847;0.847	.|B;B	.|0.42738	.|0.396;0.396	.|T	.|0.76242	.|-0.3031	.|10	0.87932|0.72032	D|D	0|0.01	-19.224|-19.224	15.1338|15.1338	0.72545|0.72545	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|225;225	.|A8K0D5;Q9P0W2	.|.;HM20B_HUMAN	X|H	55|225;242	.|ENSP00000328269:Q225H	ENSP00000385987:E55X|ENSP00000262949:Q242H	E|Q	+|+	1|3	0|2	HMG20B|HMG20B	3527972|3527972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.983000|3.983000	0.56916|0.56916	1.899000|1.899000	0.54978|0.54978	0.472000|0.472000	0.43445|0.43445	GAG|CAG	HMG20B	-	NULL	ENSG00000064961		0.711	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20B	HGNC	protein_coding	OTTHUMT00000318088.1	-	0	85	0	G	NM_006339		3576972	1	tier1	-	no_errors	ENST00000333651	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	3576972	G	T	3576972	3	4	180	1	0	0	0	0	1	0	0	0	7249	933	33	3	701	3	HMG20B	19	3576972	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	2819797	3576972	55552011	202	44861											
TRIP10	9322	genome.wustl.edu	37	chr19	6750388	6750388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ccggcctcccgacccccccgCtagcgccccgccagacagca	6	2	9	24	5	0	1	0	0	0	1	1	2	1	1	9	1	2	2	9	1	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:6750388C>T	ENST00000313244.9	+	13	1516	c.1481C>T	c.(1480-1482)gCt>gTt	p.A494V	TRIP10_ENST00000600428.1_Missense_Mutation_p.A330V|TRIP10_ENST00000596758.1_Missense_Mutation_p.A438V|TRIP10_ENST00000313285.8_Missense_Mutation_p.A438V|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	494	Interaction with CDC42.|Interaction with DNM2 and WASL. {ECO:0000250}.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.			ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729). {ECO:0000305}.	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						GACCCCCCCGCTAGCGCCCCG	0.677																																																	0													41	51	48					19																	6750388		2203	4300	6503	SO:0001583	missense	0			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.1481C>T	19.37:g.6750388C>T	ENSP00000320117:p.Ala494Val		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.A494V	ENST00000313244.9	37	c.1481		19	.	.	.	.	.	.	.	.	.	.	C	0.197	-1.047914	0.01981	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.74209	-0.82;-0.82	4.42	2.26	0.28386	.	1.169250	0.06354	N	0.710462	T	0.55273	0.1910	N	0.12182	0.205	0.09310	N	1	B;B;B	0.27971	0.02;0.191;0.196	B;B;B	0.29785	0.036;0.049;0.107	T	0.45131	-0.9282	10	0.19147	T	0.46	-7.4158	5.6649	0.17690	0.0:0.6909:0.2007:0.1084	.	438;494;438	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	V	438;494;438	ENSP00000320493:A438V;ENSP00000320117:A494V	ENSP00000320117:A494V	A	+	2	0	TRIP10	6701388	0.008000	0.16893	0.164000	0.22755	0.017000	0.09413	0.935000	0.28924	0.479000	0.27511	0.313000	0.20887	GCT	TRIP10	-	NULL	ENSG00000125733		0.677	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	-	0	95	0	C			6750388	1	tier1	-	no_errors	ENST00000313244	ensembl	human	known	74_37	missense	23.44	49	15	SNP	0.002	T	T	6750388	C	T	6750388	3	4	180	1	0	0	0	0	1	0	0	0	16602	797	28	3	1359	3	TRIP10	19	6750388	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	3173416	6750388	52378595	203	44862											
VAV1	7409	genome.wustl.edu	37	chr19	6848009	6848009	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccttggtgtctctttgcagGtacgcaggccccatggagcg	5	11	13	12	2	1	0	0	0	1	0	3	1	2	1	3	4	3	3	3	4	1	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:6848009G>A	ENST00000602142.1	+	23	2095	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*	VAV1_ENST00000596764.1_Splice_Site_p.W639*|VAV1_ENST00000304076.2_Splice_Site_p.W649*|VAV1_ENST00000599806.1_Splice_Site_p.W616*|VAV1_ENST00000539284.1_Splice_Site_p.W574*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	671	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						CTCTTTGCAGGTACGCAGGCC	0.602																																																	0													75	79	77					19																	6848009		2203	4300	6503	SO:0001630	splice_region_variant	0				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.2013-1G>A	19.37:g.6848009G>A			B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.W671*	ENST00000602142.1	37	c.2013	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.186021	0.94885	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	3.68	3.68	0.42216	.	0.069039	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9492	0.58389	0.0:0.0:1.0:0.0	.	.	.	.	X	671;574	.	.	W	+	3	0	VAV1	6799009	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	8.064000	0.89483	1.890000	0.54733	0.313000	0.20887	TGG	VAV1	-	pfam_SH2,superfamily_SH3_domain,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000141968		0.602	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1		0	39	0	G		Nonsense_Mutation	6848009	1			no_errors	ENST00000602142	ensembl	human	known	74_37	nonsense	9.52	19	2	SNP	1.000	A	A	6848009	G	A	6848009	5	1	180	1	0	0	0	0	0	0	1	0	17180	1275	44	3	2103	3	VAV1	19	6848009	Splice_Site	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	97621	6848009	52280974	204	44863											
MUC16	94025	genome.wustl.edu	37	chr19	9071105	9071105	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcatcagaggtgtggctttCgatgtctctgagtcagctag	7	13	12	9	1	4	2	3	1	1	1	6	3	4	2	0	2	1	2	0	2	1	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:9071105C>T	ENST00000397910.4	-	3	16544	c.16341G>A	c.(16339-16341)tcG>tcA	p.S5447S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5449	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						GTGTGGCTTTCGATGTCTCTG	0.493																																																	0													216	208	211					19																	9071105		2086	4209	6295	SO:0001819	synonymous_variant	0			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.16341G>A	19.37:g.9071105C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S5447	ENST00000397910.4	37	c.16341	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	52	0	C	NM_024690		9071105	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	15.56	38	7	SNP	0.000	T	T	9071105	C	T	9071105	2	4	180	1	0	0	0	0	0	0	0	1	10011	871	31	1		1	MUC16	19	9071105	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	2223096	9071105	50057878	205	44864											
TMED1	11018	genome.wustl.edu	37	chr19	10945729	10945729	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagaacaccagcttctCggagatggtgctgaaggagt	12	9	12	8	1	2	3	1	1	1	2	3	5	2	4	1	3	3	2	1	3	3	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:10945729C>A	ENST00000214869.2	-	3	444	c.346G>T	c.(346-348)Gag>Tag	p.E116*	C19orf38_ENST00000592854.1_5'Flank|TMED1_ENST00000591695.1_Intron|TMED1_ENST00000588289.1_5'UTR	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	116	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				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)	p.E116K(1)		breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						ACCAGCTTCTCGGAGATGGTG	0.577																																																	1	Substitution - Missense(1)	skin(1)											110	108	109					19																	10945729		2203	4300	6503	SO:0001587	stop_gained	0			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.346G>T	19.37:g.10945729C>A	ENSP00000214869:p.Glu116*			Nonsense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.E116*	ENST00000214869.2	37	c.346	CCDS12249.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.719944	0.97788	.	.	ENSG00000099203	ENST00000214869	.	.	.	5.15	5.15	0.70609	.	0.048839	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-35.2188	17.4077	0.87477	0.0:1.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000214869:E116X	E	-	1	0	TMED1	10806729	1.000000	0.71417	0.881000	0.34555	0.977000	0.68977	7.551000	0.82182	2.407000	0.81776	0.561000	0.74099	GAG	TMED1	-	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	ENSG00000099203		0.577	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED1	HGNC	protein_coding	OTTHUMT00000452614.1		0	67	0	C	NM_006858		10945729	-1			no_errors	ENST00000214869	ensembl	human	known	74_37	nonsense	5.26	35	2	SNP	1.000	A	A	10945729	C	A	10945729	4	1	180	1	0	0	0	0	0	1	0	0	16049	893	31	2	345	2	TMED1	19	10945729	Nonsense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	1874624	10945729	48183254	206	44865											
SIN3B	23309	genome.wustl.edu	37	chr19	16973357	16973357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagtgcagtgggaggacagCcatctgcaaggaggtagcgc	11	5	16	9	1	1	0	0	0	1	0	1	3	1	3	1	4	4	3	1	4	3	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:16973357C>T	ENST00000248054.5	+	9	1274	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V	SIN3B_ENST00000379803.1_Missense_Mutation_p.A418V|SIN3B_ENST00000595541.1_5'Flank					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGGAGGACAGCCATCTGCAAG	0.567																																																	0													45	36	39					19																	16973357		2203	4300	6503	SO:0001583	missense	0			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.1253C>T	19.37:g.16973357C>T	ENSP00000248054:p.Ala418Val			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.A418V	ENST00000248054.5	37	c.1253		19	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703443	0.88924	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.47869	0.83;0.85	4.73	4.73	0.59995	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	L	0.39898	1.24	0.80722	D	1	D;P	0.54047	0.964;0.885	P;P	0.60789	0.879;0.688	T	0.60255	-0.7299	10	0.51188	T	0.08	-28.9674	17.6866	0.88257	0.0:1.0:0.0:0.0	.	418;418	O75182-2;O75182	.;SIN3B_HUMAN	V	418	ENSP00000369131:A418V;ENSP00000248054:A418V	ENSP00000248054:A418V	A	+	2	0	SIN3B	16834357	1.000000	0.71417	0.983000	0.44433	0.947000	0.59692	7.621000	0.83083	2.179000	0.69175	0.561000	0.74099	GCC	SIN3B	-	pfam_HDAC_interact,smart_HDAC_interact	ENSG00000127511		0.567	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	-	0	49	0	C	NM_015260		16973357	1	tier1	-	no_errors	ENST00000379803	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	16973357	C	T	16973357	3	4	180	1	0	0	0	0	1	0	0	0	14371	739	26	3	1287	3	SIN3B	19	16973357	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	6027628	16973357	42155626	207	44866											
CILP2	148113	genome.wustl.edu	37	chr19	19656122	19656122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gggcacacctgcctcctggaCtggcgatctcctggcctggt	4	9	13	15	1	1	0	0	0	1	0	3	2	2	1	5	5	1	1	5	5	0	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:19656122C>T	ENST00000291495.5	+	8	2853	c.2768C>T	c.(2767-2769)aCt>aTt	p.T923I	CILP2_ENST00000586018.1_Missense_Mutation_p.T929I	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	923						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						GCCTCCTGGACTGGCGATCTC	0.652																																																	0													34	25	28					19																	19656122		2202	4298	6500	SO:0001583	missense	0			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.2768C>T	19.37:g.19656122C>T	ENSP00000291495:p.Thr923Ile		Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.T923I	ENST00000291495.5	37	c.2768	CCDS12405.1	19	.	.	.	.	.	.	.	.	.	.	C	8.546	0.874511	0.17395	.	.	ENSG00000160161	ENST00000291495	T	0.09630	2.96	5.79	3.52	0.40303	.	0.278041	0.39615	N	0.001319	T	0.09818	0.0241	L	0.46157	1.445	0.41211	D	0.986448	P;P	0.48294	0.908;0.908	B;B	0.42851	0.4;0.391	T	0.06427	-1.0827	10	0.59425	D	0.04	-14.0412	4.2441	0.10663	0.1657:0.5914:0.1596:0.0832	.	923;923	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	I	923	ENSP00000291495:T923I	ENSP00000291495:T923I	T	+	2	0	CILP2	19517122	0.998000	0.40836	0.816000	0.32577	0.069000	0.16628	3.866000	0.56040	1.447000	0.47661	-0.324000	0.08512	ACT	CILP2	-	NULL	ENSG00000160161		0.652	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	-	0	74	0	C	NM_153221		19656122	1	tier1	-	no_errors	ENST00000291495	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.974	T	T	19656122	C	T	19656122	3	4	180	1	0	0	0	0	1	0	0	0	3437	565	20	3	2798	3	CILP2	19	19656122	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	2682765	19656122	39472861	208	44867											
ZNF260	339324	genome.wustl.edu	37	chr19	37005581	37005581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttaaagggcttctttccaGtatggatgttctgatgttta	9	18	9	5	0	2	1	0	1	2	0	3	2	3	2	1	2	0	4	1	2	4	8			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:37005581G>T	ENST00000523638.1	-	3	1681	c.560C>A	c.(559-561)aCt>aAt	p.T187N	ZNF260_ENST00000593142.1_Missense_Mutation_p.T187N|ZNF260_ENST00000588993.1_Missense_Mutation_p.T187N|ZNF260_ENST00000592282.1_Missense_Mutation_p.T187N	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	187					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)					CTTCTTTCCAGTATGGATGTT	0.378																																																	0													162	165	164					19																	37005581		2203	4300	6503	SO:0001583	missense	0			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.560C>A	19.37:g.37005581G>T	ENSP00000429803:p.Thr187Asn		Q0VF43	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T187N	ENST00000523638.1	37	c.560	CCDS33003.1	19	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764753	0.31228	.	.	ENSG00000254004	ENST00000523638	T	0.26067	1.76	4.58	-0.514	0.11958	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22936	0.0554	L	0.33485	1.01	0.25645	N	0.986164	B	0.23249	0.082	B	0.33890	0.172	T	0.43442	-0.9391	9	0.62326	D	0.03	.	11.3855	0.49782	0.0:0.2633:0.6515:0.0853	.	187	Q3ZCT1	ZN260_HUMAN	N	187	ENSP00000429803:T187N	ENSP00000429803:T187N	T	-	2	0	ZNF260	41697421	0.010000	0.17322	0.735000	0.30896	0.926000	0.56050	0.092000	0.15066	0.236000	0.21180	-0.311000	0.09066	ACT	ZNF260	-	pfscan_Znf_C2H2	ENSG00000254004		0.378	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2	-	0	105	0	G	NM_001012756		37005581	-1	tier1	-	no_errors	ENST00000523638	ensembl	human	known	74_37	missense	15.87	53	10	SNP	0.997	T	T	37005581	G	T	37005581	3	4	180	1	0	0	0	0	1	0	0	0	17850	1029	36	3	682	3	ZNF260	19	37005581	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	17349459	37005581	22123402	209	44868											
ZNF461	92283	genome.wustl.edu	37	chr19	37130748	37130748	+	Frame_Shift_Del	DEL	T	T	-																															gggcatgttttcatggttaaTcataagttgtctaaaataac																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:37130748delT	ENST00000588268.1	-	6	726	c.499delA	c.(499-501)attfs	p.I167fs	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Frame_Shift_Del_p.I144fs	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	167					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)			TCATGGTTAATCATAAGTTGT	0.358																																																	0													242	233	236					19																	37130748		1844	4101	5945	SO:0001589	frameshift_variant	0			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.499delA	19.37:g.37130748delT	ENSP00000467931:p.Ile167fs		A8K9W9|Q6VSF7|Q9ULZ8	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I167fs	ENST00000588268.1	37	c.499	CCDS54257.1	19																																																																																			ZNF461	-	NULL	ENSG00000197808		0.358	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF461	HGNC	protein_coding	OTTHUMT00000453202.1		0	118	0	T	NM_153257		37130748	-1	tier1		no_errors	ENST00000588268	ensembl	human	known	74_37	frame_shift_del	18.92	60	14	DEL	0.002	-	-	37130748	T	-	37130748	7	5	180	1	0	1	0	1	0	0	0	0	17973	1435	50	0	1196	0	ZNF461	19	37130748	Frame_Shift_Del	DEL	T	TCGA-XP-A8T8-01A-11D-A36J-09	125167	37130748	21998235	210	44869											
FCGBP	8857	genome.wustl.edu	37	chr19	40376662	40376662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattcctccagggctccacGtggcctccagccgcctggca	5	8	10	18	2	1	0	1	0	0	0	5	0	5	0	7	3	1	2	7	3	0	1	rs79630345	byFrequency	TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:40376662G>C	ENST00000221347.6	-	24	11767	c.11760C>G	c.(11758-11760)caC>caG	p.H3920Q	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3920			H -> Q (in dbSNP:rs2542318).			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)			AGGGCTCCACGTGGCCTCCAG	0.592													g|||	625	0.1248	0.0983	0.0447	5008	,	,		27897	0.3026		0.0577	False		,,,				2504	0.1033																0													96	122	113					19																	40376662		2113	4189	6302	SO:0001583	missense	0			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.11760C>G	19.37:g.40376662G>C	ENSP00000221347:p.His3920Gln		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.H3920Q	ENST00000221347.6	37	c.11760	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	g	7.411	0.634815	0.14322	.	.	ENSG00000090920	ENST00000221347	T	0.75704	-0.96	3.67	-6.46	0.01908	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.42653	0.1212	N	0.11255	0.115	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.33343	-0.9872	9	0.12766	T	0.61	.	1.7186	0.02907	0.3358:0.1251:0.4119:0.1272	.	3920	Q9Y6R7	FCGBP_HUMAN	Q	3920	ENSP00000221347:H3920Q	ENSP00000221347:H3920Q	H	-	3	2	FCGBP	45068502	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	-2.166000	0.01273	-1.510000	0.01796	0.313000	0.20887	CAC	FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000090920		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	76	0	G	NM_003890		40376662	-1	tier1	rs79630345	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.001	C	C	40376662	G	C	40376662	3	2	180	1	0	0	0	0	1	0	0	0	5800	1136	40	5	4509	5	FCGBP	19	40376662	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	3245914	40376662	18752321	211	44870											
PSG1	5669	genome.wustl.edu	37	chr19	43373155	43373155	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccctggggtttaagttGttgatggtgatgtagggctt	5	17	14	5	0	1	2	0	2	1	0	2	2	1	2	1	4	0	5	1	4	2	7			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:43373155G>A	ENST00000436291.2	-	4	857	c.741C>T	c.(739-741)aaC>aaT	p.N247N	PSG1_ENST00000403380.3_Silent_p.N154N|PSG1_ENST00000595124.1_Silent_p.N154N|PSG1_ENST00000595356.1_Silent_p.N247N|PSG1_ENST00000244296.2_Silent_p.N247N|PSG1_ENST00000312439.6_Silent_p.N247N	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	247	Ig-like C2-type 2.				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)				GGTTTAAGTTGTTGATGGTGA	0.468																																																	0													223	241	235					19																	43373155		1510	2709	4219	SO:0001819	synonymous_variant	0				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.741C>T	19.37:g.43373155G>A			O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.N247	ENST00000436291.2	37	c.741	CCDS54275.1	19																																																																																			PSG1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000231924		0.468	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	-	0	244	0	G			43373155	-1	tier1	-	no_errors	ENST00000312439	ensembl	human	known	74_37	silent	22.38	111	32	SNP	0.004	A	A	43373155	G	A	43373155	2	1	180	1	0	0	0	0	0	0	0	1	12695	1368	48	3		3	PSG1	19	43373155	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	2996493	43373155	15755828	212	44871											
CEACAM20	125931	genome.wustl.edu	37	chr19	45015182	45015182	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttccaggggctgaaagaaTtgcctctacggcttgctgaa	9	10	12	10	1	1	3	0	2	1	1	2	3	2	3	2	3	3	4	2	3	4	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:45015182T>A	ENST00000454753.1	-	0	1922							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GCTGAAAGAATTGCCTCTACG	0.502																																																	0													85	89	88					19																	45015182		1923	4116	6039			0			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45015182T>A				RNA	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			CEACAM20	-	-	ENSG00000176395		0.502	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	-	0	96	0	T	NM_198444		45015182	-1	tier1	-	no_errors	ENST00000316962	ensembl	human	known	74_37	rna	5.56	68	4	SNP	0.000	A	A	45015182	T	A	45015182	1	1	180	0	1	0	0	0	0	0	0	0	3198	1493	52	5		5	CEACAM20	19	45015182	RNA	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	1642027	45015182	14113801	213	44872											
SNRNP70	6625	genome.wustl.edu	37	chr19	49593575	49593575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcccctcctccaactCgtgctgaaacccgagaggag	10	6	11	14	2	0	3	0	1	0	2	3	6	2	4	5	1	4	1	5	1	2	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:49593575C>A	ENST00000598441.1	+	3	399	c.175C>A	c.(175-177)Cgt>Agt	p.R59S	SNRNP70_ENST00000221448.5_Missense_Mutation_p.R59S			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	59					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						TCCTCCAACTCGTGCTGAAAC	0.532																																																	0													92	80	84					19																	49593575		2203	4300	6503	SO:0001583	missense	0				CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.175C>A	19.37:g.49593575C>A	ENSP00000472998:p.Arg59Ser		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R59S	ENST00000598441.1	37	c.175	CCDS12756.1	19	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838085	0.71373	.	.	ENSG00000104852	ENST00000221448;ENST00000401730	T	0.14640	2.49	5.49	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	M	0.79805	2.47	0.80722	D	1	P;D	0.54207	0.935;0.965	P;P	0.51550	0.673;0.618	T	0.06534	-1.0821	10	0.46703	T	0.11	-6.5725	12.4309	0.55573	0.3149:0.6851:0.0:0.0	.	59;59	P08621;P08621-2	RU17_HUMAN;.	S	59	ENSP00000221448:R59S	ENSP00000221448:R59S	R	+	1	0	SNRNP70	54285387	0.997000	0.39634	0.987000	0.45799	0.987000	0.75469	3.314000	0.51943	1.405000	0.46838	0.561000	0.74099	CGT	SNRNP70	-	pfam_U1snRNP70_N	ENSG00000104852		0.532	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP70	HGNC	protein_coding	OTTHUMT00000466266.1	-	0	86	0	C	NM_003089		49593575	1	tier1	-	no_errors	ENST00000598441	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.992	A	A	49593575	C	A	49593575	3	1	180	1	0	0	0	0	1	0	0	0	14903	884	31	2	181	2	SNRNP70	19	49593575	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	4578393	49593575	9535408	214	44873											
ZNF347	84671	genome.wustl.edu	37	chr19	53652593	53652593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctcctgagagaattctaTagccacatccctgaatgtca	11	11	6	13	0	2	3	1	2	1	1	5	4	5	3	4	0	1	0	4	0	4	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:53652593T>C	ENST00000334197.7	-	3	111	c.43A>G	c.(43-45)Ata>Gta	p.I15V	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.I15V|ZNF347_ENST00000601469.2_Missense_Mutation_p.I15V	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	15	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)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GAGAATTCTATAGCCACATCC	0.478																																					Melanoma(64;205 1597 17324 45721)												0													89	92	91					19																	53652593		2203	4300	6503	SO:0001583	missense	0			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.43A>G	19.37:g.53652593T>C	ENSP00000334146:p.Ile15Val		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I15V	ENST00000334197.7	37	c.43	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	T	12.15	1.852404	0.32699	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.00824	5.65;5.65	2.38	1.35	0.21983	Krueppel-associated box (4);	.	.	.	.	T	0.01092	0.0036	N	0.10685	0.025	0.19575	N	0.999966	P;D	0.58620	0.876;0.983	P;D	0.73708	0.894;0.981	T	0.51490	-0.8699	9	0.08179	T	0.78	.	3.5479	0.07835	0.0:0.3519:0.0:0.6481	.	15;15	G5E9N4;Q96SE7	.;ZN347_HUMAN	V	15	ENSP00000334146:I15V;ENSP00000405218:I15V	ENSP00000334146:I15V	I	-	1	0	ZNF347	58344405	0.000000	0.05858	0.987000	0.45799	0.955000	0.61496	-0.302000	0.08221	1.100000	0.41517	0.482000	0.46254	ATA	ZNF347	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197937		0.478	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	-	0	202	0	T	NM_032584		53652593	-1	tier1	-	no_errors	ENST00000452676	ensembl	human	known	74_37	missense	68.91	37	82	SNP	0.774	C	C	53652593	T	C	53652593	3	2	180	1	0	0	0	0	1	0	0	0	17909	1406	49	4	2491	4	ZNF347	19	53652593	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	4059018	53652593	5476390	215	44874											
CACNG8	59283	genome.wustl.edu	37	chr19	54485599	54485599	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggcgggagcggcccctcGgccatcctccgtctgcccag	4	6	14	17	4	1	0	0	0	1	0	4	1	3	1	6	4	2	0	6	4	0	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:54485599G>A	ENST00000270458.2	+	4	877	c.774G>A	c.(772-774)tcG>tcA	p.S258S	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	258	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)		GCGGCCCCTCGGCCATCCTCC	0.746																																																	0													4	5	5					19																	54485599		2012	3812	5824	SO:0001819	synonymous_variant	0			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.774G>A	19.37:g.54485599G>A			Q9BXT0|Q9BY23	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin	p.S258	ENST00000270458.2	37	c.774	CCDS33104.1	19																																																																																			CACNG8	-	NULL	ENSG00000142408		0.746	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	CACNG8	HGNC	protein_coding	OTTHUMT00000139361.3		0	20	0	G			54485599	1			no_errors	ENST00000270458	ensembl	human	known	74_37	silent	33.33	8	4	SNP	1.000	A	A	54485599	G	A	54485599	2	1	180	1	0	0	0	0	0	0	0	1	2570	1103	39	1		1	CACNG8	19	54485599	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	833006	54485599	4643384	216	44875											
ZNF667	63934	genome.wustl.edu	37	chr19	56953299	56953299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcacatttgtacggtttCtctgaagtgtgaattctctg	8	18	8	7	1	3	2	1	2	2	0	5	2	3	2	0	1	1	2	0	1	4	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:56953299C>A	ENST00000504904.3	-	7	1784	c.1065G>T	c.(1063-1065)gaG>gaT	p.E355D	ZNF667_ENST00000342634.3_Missense_Mutation_p.E483D|ZNF667_ENST00000292069.6_Missense_Mutation_p.E355D|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TGTACGGTTTCTCTGAAGTGT	0.363																																																	0													85	91	89					19																	56953299		2203	4300	6503	SO:0001583	missense	0				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.1065G>T	19.37:g.56953299C>A	ENSP00000439402:p.Glu355Asp		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E483D	ENST00000504904.3	37	c.1449	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	C	7.984	0.751865	0.15778	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.26810	1.71;1.71;1.71	5.05	0.301	0.15781	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.804032	0.10576	N	0.658516	T	0.24084	0.0583	L	0.39692	1.235	0.22666	N	0.99888	P;P	0.47253	0.892;0.822	P;P	0.48488	0.579;0.455	T	0.16541	-1.0399	10	0.87932	D	0	-6.0E-4	3.4801	0.07599	0.1377:0.5703:0.1338:0.1582	.	483;355	E7EPS0;Q5HYK9	.;ZN667_HUMAN	D	483;355;355;137;127	ENSP00000344699:E483D;ENSP00000439402:E355D;ENSP00000292069:E355D	ENSP00000292069:E355D	E	-	3	2	ZNF667	61645111	0.089000	0.21612	0.001000	0.08648	0.003000	0.03518	0.175000	0.16762	0.289000	0.22422	-0.274000	0.10170	GAG	ZNF667	-	pfscan_Znf_C2H2	ENSG00000198046		0.363	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1		0	56	0	C	NM_022103		56953299	-1			no_errors	ENST00000342634	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.897	A	A	56953299	C	A	56953299	3	1	180	1	0	0	0	0	1	0	0	0	18122	912	32	3	771	3	ZNF667	19	56953299	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	2467700	56953299	2175684	217	44876											
ZNF71	58491	genome.wustl.edu	37	chr19	57133981	57133981	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aagccgtacaggtgcggccaGtgcgggaagtccttcatcaa	10	7	13	11	3	2	0	2	0	0	0	3	1	3	1	3	3	4	1	3	3	4	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr19:57133981G>T	ENST00000328070.6	+	3	1560	c.1326G>T	c.(1324-1326)caG>caT	p.Q442H		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	442					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)		GGTGCGGCCAGTGCGGGAAGT	0.642																																																	0													70	59	63					19																	57133981		2203	4300	6503	SO:0001583	missense	0			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.1326G>T	19.37:g.57133981G>T	ENSP00000328245:p.Gln442His		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q442H	ENST00000328070.6	37	c.1326	CCDS12947.1	19	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801690	0.31869	.	.	ENSG00000197951	ENST00000328070	T	0.07567	3.18	3.82	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08935	0.0221	N	0.11927	0.2	0.26136	N	0.980347	P	0.45396	0.857	P	0.51582	0.674	T	0.26467	-1.0102	9	0.54805	T	0.06	.	10.3735	0.44068	0.1191:0.0:0.8809:0.0	.	442	Q9NQZ8	ZNF71_HUMAN	H	442	ENSP00000328245:Q442H	ENSP00000328245:Q442H	Q	+	3	2	ZNF71	61825793	0.001000	0.12720	0.992000	0.48379	0.822000	0.46500	-0.401000	0.07232	1.958000	0.56883	0.561000	0.74099	CAG	ZNF71	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197951		0.642	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	-	0	114	0	G	NM_021216		57133981	1	tier1	-	no_errors	ENST00000328070	ensembl	human	known	74_37	missense	33.33	44	22	SNP	0.958	T	T	57133981	G	T	57133981	3	4	180	1	0	0	0	0	1	0	0	0	18162	1020	36	3	1328	3	ZNF71	19	57133981	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	180682	57133981	1995002	218	44877											
KIF16B	55614	genome.wustl.edu	37	chr20	16488679	16488679	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtcgctgcggtggtccggTtgatattgcccgcatccata	6	11	12	12	4	0	1	0	1	0	0	3	1	2	1	3	3	2	3	3	3	2	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr20:16488679T>A	ENST00000354981.2	-	7	780	c.623A>T	c.(622-624)aAc>aTc	p.N208I	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.N208I|KIF16B_ENST00000408042.1_Missense_Mutation_p.N208I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	208	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GGTGGTCCGGTTGATATTGCC	0.478																																																	0													263	227	239					20																	16488679		2203	4300	6503	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.623A>T	20.37:g.16488679T>A	ENSP00000347076:p.Asn208Ile		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.N208I	ENST00000354981.2	37	c.623	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339981	0.81911	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.76839	-1.05;-1.05;-1.05	5.84	5.84	0.93424	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.88625	0.6487	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.77004	0.984;0.984;0.981;0.989	D	0.88879	0.3338	10	0.45353	T	0.12	.	16.2109	0.82158	0.0:0.0:0.0:1.0	.	208;208;208;208	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	I	208	ENSP00000347076:N208I;ENSP00000347995:N208I;ENSP00000384164:N208I	ENSP00000347076:N208I	N	-	2	0	KIF16B	16436679	1.000000	0.71417	0.981000	0.43875	0.805000	0.45488	8.040000	0.89188	2.230000	0.72887	0.455000	0.32223	AAC	KIF16B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000089177		0.478	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	-	0	61	0	T	NM_017683		16488679	-1	tier1	-	no_errors	ENST00000408042	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	16488679	T	A	16488679	3	1	180	1	0	0	0	0	1	0	0	0	8305	1725	60	5	3410	5	KIF16B	20	16488679	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09		16488679	46536841	219	44878											
SSTR4	6754	genome.wustl.edu	37	chr20	23016315	23016315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggggctggtgggcaaCgccctggtcatcttcgtgat	4	11	16	10	2	2	1	1	1	1	0	3	1	2	1	1	6	1	2	1	6	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr20:23016315C>A	ENST00000255008.3	+	1	259	c.195C>A	c.(193-195)aaC>aaA	p.N65K	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	65					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGTGGGCAACGCCCTGGTCA	0.657																																					Esophageal Squamous(15;850 1104 16640)												0													97	109	105					20																	23016315		2203	4300	6503	SO:0001583	missense	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.195C>A	20.37:g.23016315C>A	ENSP00000255008:p.Asn65Lys		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.N65K	ENST00000255008.3	37	c.195	CCDS42856.1	20	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395025	0.62066	.	.	ENSG00000132671	ENST00000255008	D	0.96619	-4.07	3.73	0.301	0.15781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000002	D	0.98369	0.9458	H	0.98027	4.13	0.45342	D	0.998337	D	0.89917	1.0	D	0.81914	0.995	D	0.96487	0.9361	10	0.87932	D	0	.	6.5379	0.22365	0.0:0.6389:0.157:0.2041	.	65	P31391	SSR4_HUMAN	K	65	ENSP00000255008:N65K	ENSP00000255008:N65K	N	+	3	2	SSTR4	22964315	0.998000	0.40836	0.994000	0.49952	0.978000	0.69477	0.578000	0.23773	0.235000	0.21160	0.561000	0.74099	AAC	SSTR4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000132671		0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	HGNC	protein_coding	OTTHUMT00000078308.1		0	28	0	C			23016315	1			no_errors	ENST00000255008	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	23016315	C	A	23016315	3	1	180	1	0	0	0	0	1	0	0	0	15247	535	19	2	197	2	SSTR4	20	23016315	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	6527636	23016315	40009205	220	44879											
TRPC4AP	26133	genome.wustl.edu	37	chr20	33632411	33632411	+	Silent	SNP	T	T	C	0	1	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	tcattccctgtatccatctcTgaaatggtgacagccagaat	11	12	7	11	0	2	3	1	2	1	1	5	3	4	3	3	1	1	1	3	1	3	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr20:33632411T>C	ENST00000252015.2	-	7	851	c.762A>G	c.(760-762)tcA>tcG	p.S254S	TRPC4AP_ENST00000432634.2_Silent_p.S215S|TRPC4AP_ENST00000451813.2_Silent_p.S254S			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	254	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)			TATCCATCTCTGAAATGGTGA	0.463																																																	0													135	131	132					20																	33632411		2203	4300	6503	SO:0001819	synonymous_variant	0			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.762A>G	20.37:g.33632411T>C			E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	pfam_DUF3689	p.S254	ENST00000252015.2	37	c.762	CCDS13246.1	20																																																																																			TRPC4AP	-	NULL	ENSG00000100991		0.463	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	HGNC	protein_coding	OTTHUMT00000078832.2	-	0	53	0	T	NM_015638		33632411	-1	tier1	-	no_errors	ENST00000252015	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.587	C	C	33632411	T	C	33632411	2	2	180	1	0	0	0	0	0	0	0	1	16629	1567	55	4		4	TRPC4AP	20	33632411	Silent	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	10616096	33632411	29393109	221	44880											
RALGAPB	57148	genome.wustl.edu	37	chr20	37198618	37198618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagagtttctgtagtctggGtggaacgctatgatgatata	11	13	12	5	1	2	3	0	2	2	1	2	4	2	4	0	2	1	3	0	2	6	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr20:37198618G>A	ENST00000262879.6	+	27	4326	c.4042G>A	c.(4042-4044)Gtg>Atg	p.V1348M	RALGAPB_ENST00000397042.3_Missense_Mutation_p.V1345M|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V1127M|RALGAPB_ENST00000397040.1_Missense_Mutation_p.V1348M			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1348	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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						TGTAGTCTGGGTGGAACGCTA	0.468																																																	0													110	93	99					20																	37198618		2203	4300	6503	SO:0001583	missense	0			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.4042G>A	20.37:g.37198618G>A	ENSP00000262879:p.Val1348Met		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.V1348M	ENST00000262879.6	37	c.4042	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555021	0.86231	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33	5.64	5.64	0.86602	Rap/ran-GAP (1);	0.060423	0.64402	D	0.000003	D	0.91399	0.7286	L	0.44542	1.39	0.80722	D	1	P;P	0.41131	0.739;0.739	B;B	0.43225	0.412;0.412	D	0.90653	0.4584	10	0.39692	T	0.17	.	15.2249	0.73342	0.0:0.14:0.86:0.0	.	1345;1348	A2A2E9;Q86X10	.;RLGPB_HUMAN	M	1348;1345;1127;1348;1177	ENSP00000262879:V1348M;ENSP00000380235:V1345M;ENSP00000380231:V1127M;ENSP00000380233:V1348M;ENSP00000416646:V1177M	ENSP00000262879:V1348M	V	+	1	0	RALGAPB	36632032	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.620000	0.83070	2.664000	0.90586	0.655000	0.94253	GTG	RALGAPB	-	pfscan_Rap_GAP_dom	ENSG00000170471		0.468	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1		0	20	0	G	NM_020336		37198618	1			no_errors	ENST00000262879	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	37198618	G	A	37198618	3	1	180	1	0	0	0	0	1	0	0	0	13060	1261	44	3	4144	3	RALGAPB	20	37198618	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	3566207	37198618	25826902	222	44881											
DHX35	60625	genome.wustl.edu	37	chr20	37591011	37591012	+	Start_Codon_Ins	INS	-	-	T																															cgtgaccttttaccccaacaINStggctgcgcccgtgggaccg																										TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr20:37591011_37591012insT	ENST00000252011.3	+	0	34_35				DHX35_ENST00000373325.2_Start_Codon_Ins|RP4-616B8.4_ENST00000570096.1_RNA|DHX35_ENST00000373323.4_Start_Codon_Ins	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35						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)				TTACCCCAACATGGCTGCGCCC	0.713																																																	0																																										SO:0001582	initiator_codon_variant	0			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.2dupT	20.37:g.37591012_37591012dupT			A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Frame_Shift_Ins	INS	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M1fs	ENST00000252011.3	37	c.1_2	CCDS13310.1	20																																																																																			DHX35	-	NULL	ENSG00000101452		0.713	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2		0	161	0	-	NM_021931		37591012	1	tier1		no_errors	ENST00000252011	ensembl	human	known	74_37	frame_shift_ins	44.65	88	71	INS	1.000:1.000	T	T	37591012	-	T	37591011	7	5	180	1	0	1	1	0	0	0	0	0	4522	217	8	0	3	0	DHX35	20	37591011	Start_Codon_Ins	INS	-	TCGA-XP-A8T8-01A-11D-A36J-09	392393	37591011	25434509	223	44882											
STK4	6789	genome.wustl.edu	37	chr20	43629138	43629138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatcccagcagcgggaagtgGaccaggacgatgaagaaaac	16	3	13	9	2	0	2	0	1	0	1	1	6	1	5	2	3	3	1	2	3	5	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr20:43629138G>T	ENST00000372806.3	+	8	1032	c.937G>T	c.(937-939)Gac>Tac	p.D313Y	STK4_ENST00000396731.4_Missense_Mutation_p.D313Y|STK4_ENST00000372801.1_Missense_Mutation_p.D313Y|STK4_ENST00000499879.2_Missense_Mutation_p.D258Y	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	313					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|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)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GCGGGAAGTGGACCAGGACGA	0.468																																					GBM(187;1039 2137 11798 21916 33213)												0													66	54	58					20																	43629138		2203	4300	6503	SO:0001583	missense	0				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.937G>T	20.37:g.43629138G>T	ENSP00000361892:p.Asp313Tyr		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D313Y	ENST00000372806.3	37	c.937	CCDS13341.1	20	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035681	0.54896	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.73258	-0.71;-0.73;-0.73;0.26	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.266184	0.42964	D	0.000640	T	0.68742	0.3034	L	0.60455	1.87	0.51482	D	0.999926	B;B;B;B	0.13145	0.001;0.005;0.003;0.007	B;B;B;B	0.15052	0.007;0.012;0.005;0.005	T	0.64829	-0.6315	10	0.56958	D	0.05	.	15.8044	0.78481	0.0:0.0:0.8635:0.1365	.	258;313;313;313	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	Y	313;313;313;258	ENSP00000361892:D313Y;ENSP00000379957:D313Y;ENSP00000361887:D313Y;ENSP00000443514:D258Y	ENSP00000361887:D313Y	D	+	1	0	STK4	43062552	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.282000	0.78630	2.782000	0.95742	0.655000	0.94253	GAC	STK4	-	superfamily_Kinase-like_dom	ENSG00000101109		0.468	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK4	HGNC	protein_coding	OTTHUMT00000080401.4	-	0	116	0	G	NM_006282		43629138	1	tier1	-	no_errors	ENST00000372806	ensembl	human	known	74_37	missense	48.18	57	53	SNP	1.000	T	T	43629138	G	T	43629138	3	4	180	1	0	0	0	0	1	0	0	0	15353	1174	41	3	967	3	STK4	20	43629138	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	6038127	43629138	19396382	224	44883											
KCNG1	3755	genome.wustl.edu	37	chr20	49626754	49626754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gccgcagccgctgcgcccggCggtagaacgcgcccttgatg	5	5	15	16	7	0	2	0	1	0	1	0	2	0	2	4	2	3	3	4	2	2	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr20:49626754C>T	ENST00000371571.4	-	2	407	c.122G>A	c.(121-123)cGc>cAc	p.R41H	KCNG1_ENST00000396017.3_Missense_Mutation_p.R41H|RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	41					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.R41H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGCGCCCGGCGGTAGAACGC	0.682																																																	1	Substitution - Missense(1)	large_intestine(1)											17	20	19					20																	49626754		2185	4244	6429	SO:0001583	missense	0			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.122G>A	20.37:g.49626754C>T	ENSP00000360626:p.Arg41His		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.R41H	ENST00000371571.4	37	c.122	CCDS13436.1	20	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629925	0.46944	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171;ENST00000433903;ENST00000447736	D;D;D;D	0.98028	-4.67;-2.74;-3.32;-3.6	5.87	4.93	0.64822	.	1.096560	0.06710	N	0.773060	D	0.96953	0.9005	L	0.53249	1.67	0.34128	D	0.664881	D;B	0.63046	0.992;0.015	P;B	0.51582	0.674;0.016	D	0.94084	0.7347	9	.	.	.	.	5.6701	0.17717	0.0:0.7438:0.0:0.2562	.	41;41	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	H	41	ENSP00000360626:R41H;ENSP00000379338:R41H;ENSP00000394075:R41H;ENSP00000394093:R41H	.	R	-	2	0	KCNG1	49060161	1.000000	0.71417	0.992000	0.48379	0.383000	0.30230	3.979000	0.56888	2.800000	0.96347	0.456000	0.33151	CGC	KCNG1	-	NULL	ENSG00000026559		0.682	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4		0	32	0	C	NM_002237		49626754	-1			no_errors	ENST00000371571	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.999	T	T	49626754	C	T	49626754	3	4	180	1	0	0	0	0	1	0	0	0	8054	768	27	1	1427	1	KCNG1	20	49626754	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	5997616	49626754	13398766	225	44884											
GNAS	2778	genome.wustl.edu	37	chr20	57415789	57415789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accccgaagagtcgaaggagCccaaggaggagaagcagcgg	14	1	16	10	3	0	2	0	0	0	2	1	7	0	4	3	4	3	1	3	4	4	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr20:57415789C>T	ENST00000313949.7	+	1	1017	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.P210S|GNAS_ENST00000371075.3_Missense_Mutation_p.P210S|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTCGAAGGAGCCCAAGGAGGA	0.667			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													19	18	18					20																	57415789		2200	4295	6495	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.628C>T	20.37:g.57415789C>T	ENSP00000323571:p.Pro210Ser		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_NESP55	p.P210S	ENST00000313949.7	37	c.628	CCDS13471.1	20	.	.	.	.	.	.	.	.	.	.	C	9.207	1.029962	0.19512	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	4.43	1.41	0.22369	.	.	.	.	.	T	0.25269	0.0614	N	0.19112	0.55	0.09310	N	0.999992	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	8	0.34782	T	0.22	.	7.0871	0.25264	0.0:0.7043:0.0:0.2957	.	210	O95467	GNAS3_HUMAN	S	210;210;210;131	.	ENSP00000323571:P210S	P	+	1	0	GNAS	56849184	0.254000	0.23992	0.105000	0.21289	0.423000	0.31445	1.604000	0.36804	0.205000	0.20568	-0.482000	0.04802	CCC	GNAS	-	pfam_NESP55	ENSG00000087460		0.667	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080418.7		0	69	0	C	NM_000516		57415789	1			no_errors	ENST00000313949	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.135	T	T	57415789	C	T	57415789	3	4	180	1	0	0	0	0	1	0	0	0	6536	739	26	3	630	3	GNAS	20	57415789	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	7789035	57415789	5609731	226	44885											
SS18L1	26039	genome.wustl.edu	37	chr20	60736518	60736518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcagaacatgaacctgggCcctggagccctgactcagag	11	5	12	13	1	1	4	1	2	0	2	1	5	1	5	3	2	3	1	3	2	2	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr20:60736518C>T	ENST00000331758.3	+	4	284	c.258C>T	c.(256-258)ggC>ggT	p.G86G	SS18L1_ENST00000421564.1_Silent_p.G86G|SS18L1_ENST00000370848.4_Silent_p.G89G	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	86	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			TGAACCTGGGCCCTGGAGCCC	0.632			T	SSX1	synovial sarcoma																																			Dom	yes		20	20q13.3	26039	synovial sarcoma translocation gene on chromosome 18-like 1		M	0													29	34	33					20																	60736518		2202	4300	6502	SO:0001819	synonymous_variant	0			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.258C>T	20.37:g.60736518C>T			A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Silent	SNP	pfam_SS18_fam	p.G89	ENST00000331758.3	37	c.267	CCDS13491.1	20																																																																																			SS18L1	-	NULL	ENSG00000184402		0.632	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SS18L1	HGNC	protein_coding	OTTHUMT00000080004.2	-	0	38	0	C			60736518	1	tier1	-	no_errors	ENST00000370848	ensembl	human	known	74_37	silent	36.00	16	9	SNP	0.998	T	T	60736518	C	T	60736518	2	4	180	1	0	0	0	0	0	0	0	1	15223	726	26	3		3	SS18L1	20	60736518	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	3320729	60736518	2289002	227	44886											
RTEL1	51750	genome.wustl.edu	37	chr20	62319727	62319727	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcatggagaagagcctGgagttctggcgggtgcgtct	6	10	16	9	2	3	2	1	0	2	2	3	4	3	3	2	4	2	1	2	4	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr20:62319727G>A	ENST00000360203.5	+	20	2035	c.1710G>A	c.(1708-1710)ctG>ctA	p.L570L	RTEL1_ENST00000370003.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L570L|RTEL1_ENST00000318100.4_Silent_p.L570L|RTEL1_ENST00000508582.2_Silent_p.L594L|RTEL1_ENST00000370018.3_Silent_p.L570L					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)			AGAAGAGCCTGGAGTTCTGGC	0.637																																																	0													62	48	52					20																	62319727		2203	4291	6494	SO:0001819	synonymous_variant	0			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.1710G>A	20.37:g.62319727G>A				Silent	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.L570	ENST00000360203.5	37	c.1710		20																																																																																			RTEL1	-	superfamily_P-loop_NTPase,smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000258366		0.637	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	-	0	30	0	G	NM_032957		62319727	1	tier1	-	no_errors	ENST00000318100	ensembl	human	known	74_37	silent	13.33	26	4	SNP	1.000	A	A	62319727	G	A	62319727	2	1	180	1	0	0	0	0	0	0	0	1	13765	1335	47	3		3	RTEL1	20	62319727	Silent	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	1583209	62319727	705793	228	44887											
CHAF1B	8208	genome.wustl.edu	37	chr21	37781696	37781696	+	Silent	SNP	T	T	C	0	1	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	atcgctcatcttccatgtccTggaaaagccactcttgctgt	8	13	7	13	1	3	0	1	0	2	0	6	1	5	1	3	1	2	2	3	1	2	2			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr21:37781696T>C	ENST00000314103.5	+	10	1003	c.852T>C	c.(850-852)ccT>ccC	p.P284P		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	284					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TTCCATGTCCTGGAAAAGCCA	0.458																																																	0													278	264	269					21																	37781696		2203	4300	6503	SO:0001819	synonymous_variant	0			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.852T>C	21.37:g.37781696T>C			Q99548	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B	p.P284	ENST00000314103.5	37	c.852	CCDS13644.1	21																																																																																			CHAF1B	-	superfamily_WD40_repeat_dom	ENSG00000159259		0.458	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1B	HGNC	protein_coding	OTTHUMT00000194616.2		0	73	0	T	NM_005441		37781696	1			no_errors	ENST00000314103	ensembl	human	known	74_37	silent	5.77	49	3	SNP	0.981	C	C	37781696	T	C	37781696	2	2	180	1	0	0	0	0	0	0	0	1	3319	1567	55	4		4	CHAF1B	21	37781696	Silent	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09		37781696	10348199	229	44888											
SUSD2	56241	genome.wustl.edu	37	chr22	24577511	24577511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagccagccctcctgccctgGgccctgctgctgctggcgac	4	7	12	18	1	0	0	0	0	0	0	1	1	1	0	5	2	6	3	5	2	1	0			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr22:24577511G>T	ENST00000358321.3	+	1	285	c.24G>T	c.(22-24)tgG>tgT	p.W8C		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	8					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						TCCTGCCCTGGGCCCTGCTGC	0.687																																																	0													13	15	14					22																	24577511		2186	4285	6471	SO:0001583	missense	0			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.24G>T	22.37:g.24577511G>T	ENSP00000351075:p.Trp8Cys		Q9H5Y6	Missense_Mutation	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.W8C	ENST00000358321.3	37	c.24	CCDS13824.1	22	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055095	0.36277	.	.	ENSG00000099994	ENST00000358321	T	0.20332	2.08	3.81	2.78	0.32641	.	0.520885	0.15392	N	0.264754	T	0.21427	0.0516	L	0.57536	1.79	0.40224	D	0.977771	B	0.12013	0.005	B	0.12156	0.007	T	0.07558	-1.0766	10	0.56958	D	0.05	-9.6359	9.4506	0.38723	0.0:0.2167:0.7833:0.0	.	8	Q9UGT4	SUSD2_HUMAN	C	8	ENSP00000351075:W8C	ENSP00000351075:W8C	W	+	3	0	SUSD2	22907511	0.546000	0.26457	0.542000	0.28115	0.898000	0.52572	0.337000	0.19841	1.157000	0.42530	0.550000	0.68814	TGG	SUSD2	-	NULL	ENSG00000099994		0.687	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	-	0	42	0	G	NM_019601		24577511	1	tier1	-	no_errors	ENST00000358321	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.883	T	T	24577511	G	T	24577511	3	4	180	1	0	0	0	0	1	0	0	0	15455	1241	43	3	26	3	SUSD2	22	24577511	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09		24577511	26727055	230	44889											
TFIP11	24144	genome.wustl.edu	37	chr22	26906094	26906094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tgcccacaccccgtaggtggCttcttccttggtctgccagt	4	12	10	15	1	2	0	0	0	2	0	3	0	3	0	5	3	2	2	5	3	1	4			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr22:26906094C>A	ENST00000407690.1	-	4	428	c.145G>T	c.(145-147)Gcc>Tcc	p.A49S	CTA-445C9.14_ENST00000566814.1_RNA|CTA-445C9.14_ENST00000565764.1_RNA|TFIP11_ENST00000405938.1_Missense_Mutation_p.A49S|TFIP11_ENST00000407431.1_Missense_Mutation_p.A49S|TFIP11_ENST00000407148.1_Missense_Mutation_p.A49S	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	49	Required for interaction with DHX15.				biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCGTAGGTGGCTTCTTCCTTG	0.562																																																	0													168	144	152					22																	26906094		2203	4300	6503	SO:0001583	missense	0			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.145G>T	22.37:g.26906094C>A	ENSP00000384421:p.Ala49Ser		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.A49S	ENST00000407690.1	37	c.145	CCDS13838.1	22	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349301	0.82132	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938;ENST00000455080;ENST00000418876;ENST00000420242	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	M	0.63428	1.95	0.80722	D	1	P	0.43938	0.822	P	0.46975	0.533	T	0.52403	-0.8580	10	0.37606	T	0.19	-33.3336	16.626	0.84970	0.0:1.0:0.0:0.0	.	49	Q9UBB9	TFP11_HUMAN	S	49	ENSP00000384421:A49S;ENSP00000383892:A49S;ENSP00000385861:A49S;ENSP00000384297:A49S	ENSP00000384297:A49S	A	-	1	0	TFIP11	25236094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.127000	0.77210	2.592000	0.87571	0.650000	0.86243	GCC	TFIP11	-	pfam_TIP_N	ENSG00000100109		0.562	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	HGNC	protein_coding	OTTHUMT00000320750.1	-	0	77	0	C	NM_001008697		26906094	-1	tier1	-	no_errors	ENST00000405938	ensembl	human	known	74_37	missense	19.30	46	11	SNP	1.000	A	A	26906094	C	A	26906094	3	1	180	1	0	0	0	0	1	0	0	0	15854	797	28	3	2416	3	TFIP11	22	26906094	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	2328583	26906094	24398472	231	44890											
MTMR3	8897	genome.wustl.edu	37	chr22	30387632	30387632	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctatgccagtgaaaaaGagcaacatggagacctgtgc	14	7	12	8	0	1	3	0	1	1	2	1	4	1	3	2	2	4	1	2	2	4	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr22:30387632G>T	ENST00000401950.2	+	7	775	c.433G>T	c.(433-435)Gag>Tag	p.E145*	MTMR3_ENST00000323630.5_Nonsense_Mutation_p.E9*|MTMR3_ENST00000415511.1_3'UTR|MTMR3_ENST00000406629.1_Nonsense_Mutation_p.E145*|MTMR3_ENST00000351488.3_Nonsense_Mutation_p.E145*|MTMR3_ENST00000333027.3_Nonsense_Mutation_p.E145*	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	145					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)			CAGTGAAAAAGAGCAACATGG	0.453																																																	0													101	94	96					22																	30387632		2203	4300	6503	SO:0001587	stop_gained	0			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.433G>T	22.37:g.30387632G>T	ENSP00000384651:p.Glu145*		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Nonsense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E145*	ENST00000401950.2	37	c.433	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127705	0.77549	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	.	.	.	5.79	5.79	0.91817	.	0.093574	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.0848	0.93200	0.0:0.0:1.0:0.0	.	.	.	.	X	145;145;9;145;145	.	ENSP00000318070:E9X	E	+	1	0	MTMR3	28717632	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.472000	0.97709	2.752000	0.94435	0.650000	0.86243	GAG	MTMR3	-	NULL	ENSG00000100330		0.453	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	-	0	72	0	G	NM_021090		30387632	1	tier1	-	no_errors	ENST00000401950	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	T	T	30387632	G	T	30387632	4	4	180	1	0	0	0	0	0	1	0	0	9983	943	33	3	451	3	MTMR3	22	30387632	Nonsense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	3481538	30387632	20916934	232	44891											
SLC5A4	6527	genome.wustl.edu	37	chr22	32621800	32621800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacaacagttaatagaaGaacaaatatcctgagaagaa	20	7	7	7	0	1	4	1	1	0	4	2	5	2	4	1	0	2	2	1	0	9	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr22:32621800G>T	ENST00000266086.4	-	12	1302	c.1291C>A	c.(1291-1293)Ctt>Att	p.L431I	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	431					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTAATAGAAGAACAAATATC	0.348																																																	0													61	58	59					22																	32621800		2202	4300	6502	SO:0001583	missense	0			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1291C>A	22.37:g.32621800G>T	ENSP00000266086:p.Leu431Ile		O15279	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L431I	ENST00000266086.4	37	c.1291	CCDS13903.1	22	.	.	.	.	.	.	.	.	.	.	G	3.641	-0.073606	0.07184	.	.	ENSG00000100191	ENST00000266086	D	0.86956	-2.19	5.05	-4.02	0.04034	.	0.593276	0.18141	N	0.150420	T	0.67163	0.2864	N	0.12961	0.28	0.09310	N	0.999995	B	0.06786	0.001	B	0.17979	0.02	T	0.53634	-0.8411	10	0.30854	T	0.27	.	1.2573	0.01994	0.2152:0.2352:0.3536:0.196	.	431	Q9NY91	SC5A4_HUMAN	I	431	ENSP00000266086:L431I	ENSP00000266086:L431I	L	-	1	0	SLC5A4	30951800	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	-0.649000	0.05384	-0.763000	0.04658	-0.225000	0.12378	CTT	SLC5A4	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000100191		0.348	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	HGNC	protein_coding	OTTHUMT00000315724.1	-	0	126	0	G	NM_014227		32621800	-1	tier1	-	no_errors	ENST00000266086	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.004	T	T	32621800	G	T	32621800	3	4	180	1	0	0	0	0	1	0	0	0	14712	942	33	3	704	3	SLC5A4	22	32621800	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	2234168	32621800	18682766	233	44892											
BAIAP2L2	80115	genome.wustl.edu	37	chr22	38481371	38481371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttgacagtggcaaaaGgatttgtgcccctgtaggag	11	9	14	7	0	0	1	0	1	0	0	0	4	0	3	2	3	2	3	2	3	4	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr22:38481371G>T	ENST00000381669.3	-	14	1670	c.1526C>A	c.(1525-1527)cCt>cAt	p.P509H	SLC16A8_ENST00000320521.5_5'Flank|SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	509					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)					AGTGGCAAAAGGATTTGTGCC	0.612																																																	0													71	79	76					22																	38481371		2123	4221	6344	SO:0001583	missense	0			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.1526C>A	22.37:g.38481371G>T	ENSP00000371085:p.Pro509His		B0QYE2|Q96BG7	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.P509H	ENST00000381669.3	37	c.1526	CCDS43018.1	22	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488777	0.64074	.	.	ENSG00000128298	ENST00000381669;ENST00000402500	T	0.80393	-1.37	4.14	4.14	0.48551	.	0.000000	0.85682	U	0.000000	D	0.89128	0.6627	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90863	0.4740	10	0.87932	D	0	-25.8341	14.9499	0.71064	0.0:0.0:1.0:0.0	.	509	Q6UXY1	BI2L2_HUMAN	H	509;495	ENSP00000371085:P509H	ENSP00000371085:P509H	P	-	2	0	BAIAP2L2	36811317	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	5.428000	0.66489	2.011000	0.59026	0.491000	0.48974	CCT	BAIAP2L2	-	NULL	ENSG00000128298		0.612	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L2	HGNC	protein_coding	OTTHUMT00000321727.1	-	0	91	0	G	NM_025045		38481371	-1	tier1	-	no_errors	ENST00000381669	ensembl	human	known	74_37	missense	5.13	72	4	SNP	1.000	T	T	38481371	G	T	38481371	3	4	180	1	0	0	0	0	1	0	0	0	1304	1000	35	3	67	3	BAIAP2L2	22	38481371	Missense_Mutation	SNP	G	TCGA-XP-A8T8-01A-11D-A36J-09	5859571	38481371	12823195	234	44893											
ATF4	468	genome.wustl.edu	37	chr22	39917510	39917510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggacttgatgtcccccttCgaccagtcgggtttgggggc	4	10	16	11	2	0	1	0	1	0	0	3	3	1	2	3	5	0	1	3	5	0	3			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr22:39917510C>T	ENST00000337304.2	+	1	942	c.60C>T	c.(58-60)ttC>ttT	p.F20F	ATF4_ENST00000404241.2_Silent_p.F20F|ATF4_ENST00000396680.1_Silent_p.F20F	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	20					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TGTCCCCCTTCGACCAGTCGG	0.537																																																	0													64	64	64					22																	39917510		2203	4300	6503	SO:0001819	synonymous_variant	0			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.60C>T	22.37:g.39917510C>T			Q9UH31	Silent	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.F20	ENST00000337304.2	37	c.60	CCDS13996.1	22																																																																																			ATF4	-	NULL	ENSG00000128272		0.537	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	-	0	71	0	C	NM_001675		39917510	1	tier1	-	no_errors	ENST00000337304	ensembl	human	known	74_37	silent	11.94	59	8	SNP	1.000	T	T	39917510	C	T	39917510	2	4	180	1	0	0	0	0	0	0	0	1	1083	883	31	1		1	ATF4	22	39917510	Silent	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	1436139	39917510	11387056	235	44894											
CACNA1I	8911	genome.wustl.edu	37	chr22	40060862	40060862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtggtgtccctggcctcagCcgggggagccaagatcttgg	5	8	16	12	2	2	1	1	0	1	1	3	2	3	2	4	5	2	0	4	5	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr22:40060862C>A	ENST00000402142.3	+	21	3785	c.3785C>A	c.(3784-3786)gCc>gAc	p.A1262D	CACNA1I_ENST00000401624.1_Missense_Mutation_p.A1262D|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A1227D|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A1227D|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A1227D|CACNA1I_ENST00000336649.4_Missense_Mutation_p.A1268D	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1262					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)	CTGGCCTCAGCCGGGGGAGCC	0.642																																																	0													54	62	59					22																	40060862		2084	4197	6281	SO:0001583	missense	0			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.3785C>A	22.37:g.40060862C>A	ENSP00000385019:p.Ala1262Asp		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.A1268D	ENST00000402142.3	37	c.3803	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	9.958	1.222026	0.22457	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96975	0.9012	N	0.05031	-0.125	0.49483	D	0.99979	B;D;P;D	0.89917	0.27;1.0;0.859;0.999	B;D;B;D	0.91635	0.086;0.999;0.41;0.978	D	0.97920	1.0314	10	0.41790	T	0.15	.	16.7671	0.85527	0.0:1.0:0.0:0.0	.	1227;1262;1227;1262	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	D	1262;1227;1262;1227;1268;1227	ENSP00000385019:A1262D;ENSP00000384093:A1227D;ENSP00000383887:A1262D;ENSP00000385680:A1227D;ENSP00000337829:A1268D;ENSP00000383028:A1227D	ENSP00000337829:A1268D	A	+	2	0	CACNA1I	38390808	0.998000	0.40836	0.816000	0.32577	0.093000	0.18481	4.504000	0.60414	1.950000	0.56595	0.462000	0.41574	GCC	CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.642	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	-	0	46	0	C	NM_001003406		40060862	1	tier1	-	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.996	A	A	40060862	C	A	40060862	3	1	180	1	0	0	0	0	1	0	0	0	2553	739	26	3	3867	3	CACNA1I	22	40060862	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	143352	40060862	11243704	236	44895											
MOV10L1	54456	genome.wustl.edu	37	chr22	50599160	50599160	+	Missense_Mutation	SNP	T	T	G	0	1	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	tgaagatgatcgatatttttTgggtttcttgtccaactcaa	10	17	8	6	1	2	3	1	2	1	1	4	4	3	3	1	1	1	1	1	1	4	6			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chr22:50599160T>G	ENST00000262794.5	+	25	3451	c.3368T>G	c.(3367-3369)tTg>tGg	p.L1123W	MOV10L1_ENST00000395858.3_Intron|MOV10L1_ENST00000540615.1_Missense_Mutation_p.L1103W|MOV10L1_ENST00000395852.1_Missense_Mutation_p.L250W|MOV10L1_ENST00000545383.1_Missense_Mutation_p.L1123W	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1123					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)		CGATATTTTTTGGGTTTCTTG	0.403																																																	0													134	134	134					22																	50599160		2203	4300	6503	SO:0001583	missense	0			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.3368T>G	22.37:g.50599160T>G	ENSP00000262794:p.Leu1123Trp		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold	p.L1123W	ENST00000262794.5	37	c.3368	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	.	16.19	3.054181	0.55218	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000540615;ENST00000395852	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.68	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	M	0.91663	3.23	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	0.97093	0.9792	10	0.87932	D	0	-20.9142	12.1374	0.53979	0.0:0.0:0.1435:0.8565	.	1103;250;1123	F5H403;Q9BXT6-2;Q9BXT6	.;.;M10L1_HUMAN	W	1123;1123;1103;250	ENSP00000438978:L1123W;ENSP00000262794:L1123W;ENSP00000438542:L1103W;ENSP00000379193:L250W	ENSP00000262794:L1123W	L	+	2	0	MOV10L1	48941287	1.000000	0.71417	0.899000	0.35326	0.298000	0.27526	3.436000	0.52856	0.963000	0.38082	0.523000	0.50628	TTG	MOV10L1	-	superfamily_P-loop_NTPase	ENSG00000073146		0.403	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	-	0	84	0	T	NM_018995		50599160	1	tier1	-	no_errors	ENST00000262794	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	G	G	50599160	T	G	50599160	3	3	180	1	0	0	0	0	1	0	0	0	9757	1821	63	4	3519	4	MOV10L1	22	50599160	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09	10538298	50599160	705406	237	44896											
TLR8	51311	genome.wustl.edu	37	chrX	12938288	12938288	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcattgcatttaagaggtTatgtgttccaggaactcaga	11	12	12	6	0	1	2	1	0	0	2	2	3	2	3	1	3	2	4	1	3	3	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chrX:12938288T>C	ENST00000218032.6	+	2	1216	c.1129T>C	c.(1129-1131)Tat>Cat	p.Y377H	TLR8_ENST00000311912.5_Missense_Mutation_p.Y395H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	377					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TTTAAGAGGTTATGTGTTCCA	0.363																																																	0													84	86	85					X																	12938288		2201	4300	6501	SO:0001583	missense	0			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1129T>C	X.37:g.12938288T>C	ENSP00000218032:p.Tyr377His		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.Y377H	ENST00000218032.6	37	c.1129	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	T	15.02	2.709737	0.48517	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.30714	1.52;1.7	5.4	5.4	0.78164	.	0.000000	0.36200	N	0.002737	T	0.58864	0.2152	M	0.87827	2.91	0.36428	D	0.864758	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72211	-0.4359	10	0.87932	D	0	.	10.7815	0.46379	0.0:0.0779:0.0:0.9221	.	377;395	Q9NR97;D1CS70	TLR8_HUMAN;.	H	377;395	ENSP00000218032:Y377H;ENSP00000312082:Y395H	ENSP00000218032:Y377H	Y	+	1	0	TLR8	12848209	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	6.170000	0.71920	1.922000	0.55676	0.486000	0.48141	TAT	TLR8	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000101916		0.363	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	-	0	103	0	T	NM_016610		12938288	1	tier1	-	no_errors	ENST00000218032	ensembl	human	known	74_37	missense	65.45	19	36	SNP	1.000	C	C	12938288	T	C	12938288	3	2	180	1	0	0	0	0	1	0	0	0	16004	1754	61	4	1135	4	TLR8	23	12938288	Missense_Mutation	SNP	T	TCGA-XP-A8T8-01A-11D-A36J-09		12938288	142332272	238	44897											
DMD	1756	genome.wustl.edu	37	chrX	32613897	32613897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttgttcttccaaagcagCagttgcgtgatctccactag	10	12	9	10	1	2	1	0	1	2	0	4	1	3	1	2	0	3	5	2	0	3	5			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chrX:32613897C>T	ENST00000357033.4	-	13	1785	c.1579G>A	c.(1579-1581)Gct>Act	p.A527T	DMD_ENST00000288447.4_Missense_Mutation_p.A519T|DMD_ENST00000378677.2_Missense_Mutation_p.A523T	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	527			Missing (in BMD).		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)				TCCAAAGCAGCAGTTGCGTGA	0.348																																																	0													146	117	127					X																	32613897		2202	4300	6502	SO:0001583	missense	0			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.1579G>A	X.37:g.32613897C>T	ENSP00000354923:p.Ala527Thr		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.A527T	ENST00000357033.4	37	c.1579	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603603	0.87157	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.50548	0.74;0.74;0.74	5.74	4.88	0.63580	.	0.201387	0.23263	N	0.050109	T	0.61615	0.2361	M	0.67953	2.075	0.80722	D	1	B;B;P;B	0.42908	0.013;0.003;0.793;0.003	B;B;P;B	0.54856	0.028;0.007;0.762;0.013	T	0.63629	-0.6594	10	0.72032	D	0.01	.	12.7514	0.57310	0.0:0.9178:0.0:0.0822	.	519;519;527;523	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	T	519;523;527;527;404;519	ENSP00000367948:A523T;ENSP00000354923:A527T;ENSP00000288447:A519T	ENSP00000288447:A519T	A	-	1	0	DMD	32523818	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	5.447000	0.66606	1.177000	0.42855	0.538000	0.68166	GCT	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	61	0	C	NM_004006		32613897	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	32613897	C	T	32613897	3	4	180	1	0	0	0	0	1	0	0	0	4594	710	25	3	9989	3	DMD	23	32613897	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	19675609	32613897	122656663	239	44898											
SLC25A5	292	genome.wustl.edu	37	chrX	118604452	118604452	+	Missense_Mutation	SNP	A	A	G	1	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	acactgttcgccgccgcatgAtgatgcagtcagggcgcaaa	10	7	12	12	4	1	2	1	2	0	0	2	2	1	2	2	1	1	4	2	1	1	1			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chrX:118604452A>G	ENST00000317881.8	+	3	831	c.715A>G	c.(715-717)Atg>Gtg	p.M239V	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	239					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)	CCGCCGCATGATGATGCAGTC	0.498																																																	0													65	58	60					X																	118604452		2203	4300	6503	SO:0001583	missense	0			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.715A>G	X.37:g.118604452A>G	ENSP00000360671:p.Met239Val		B2RCV1|O43350	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.M239V	ENST00000317881.8	37	c.715	CCDS14578.1	X	.	.	.	.	.	.	.	.	.	.	a	16.02	3.003228	0.54254	.	.	ENSG00000005022	ENST00000317881	T	0.79033	-1.23	4.33	4.33	0.51752	Mitochondrial carrier domain (2);	0.039268	0.85682	D	0.000000	D	0.86900	0.6044	H	0.94808	3.585	0.80722	D	1	P	0.50819	0.939	P	0.50537	0.643	D	0.90237	0.4283	10	0.87932	D	0	.	12.4708	0.55785	1.0:0.0:0.0:0.0	.	239	P05141	ADT2_HUMAN	V	239	ENSP00000360671:M239V	ENSP00000360671:M239V	M	+	1	0	SLC25A5	118488480	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.133000	0.77259	1.692000	0.51112	0.427000	0.28365	ATG	SLC25A5	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000005022		0.498	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	HGNC	protein_coding	OTTHUMT00000058952.2	-	0	32	0	A	NM_001152		118604452	1	tier1	-	no_errors	ENST00000317881	ensembl	human	known	74_37	missense	62.50	6	10	SNP	1.000	G	G	118604452	A	G	118604452	3	3	180	1	0	0	0	0	1	0	0	0	14557	333	12	4	725	4	SLC25A5	23	118604452	Missense_Mutation	SNP	A	TCGA-XP-A8T8-01A-11D-A36J-09	85990555	118604452	36666108	240	44899											
CXorf1	9142	genome.wustl.edu	37	chrX	144909318	144909318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccccactgactatattCtgttttgctttatctgctca	7	17	5	12	0	3	1	1	1	2	0	4	1	4	1	2	0	2	4	2	0	3	7			TCGA-XP-A8T8-01A-11D-A36J-09	TCGA-XP-A8T8-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0e7fe429-8748-4ae8-885c-ca9bf2a2fe79	d3072f13-42cf-4c39-a438-5191061ead95	g.chrX:144909318C>A	ENST00000408967.2	+	1	391	c.123C>A	c.(121-123)ttC>ttA	p.F41L		NM_004709.2	NP_004700.1	O96002	TM257_HUMAN	transmembrane protein 257	41						integral component of membrane (GO:0016021)											TGACTATATTCTGTTTTGCTT	0.279																																																	0													82	80	81					X																	144909318		2203	4300	6503	SO:0001583	missense	0			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.123C>A	X.37:g.144909318C>A	ENSP00000386149:p.Phe41Leu		Q14CW0	Missense_Mutation	SNP	NULL	p.F41L	ENST00000408967.2	37	c.123	CCDS14681.1	X	.	.	.	.	.	.	.	.	.	.	C	0.421	-0.908203	0.02434	.	.	ENSG00000221870	ENST00000408967	T	0.52057	0.68	3.92	-2.15	0.07102	.	.	.	.	.	T	0.21062	0.0507	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.18085	-1.0348	9	0.87932	D	0	.	0.4347	0.00477	0.1932:0.2072:0.1898:0.4097	.	41	O96002	CX001_HUMAN	L	41	ENSP00000386149:F41L	ENSP00000386149:F41L	F	+	3	2	CXorf1	144717010	0.208000	0.23494	0.000000	0.03702	0.112000	0.19704	1.392000	0.34486	-0.459000	0.07013	0.506000	0.49869	TTC	TMEM257	-	NULL	ENSG00000221870		0.279	TMEM257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM257	HGNC	protein_coding	OTTHUMT00000356465.1	-	0	74	0	C	NM_004709		144909318	1	tier1	-	no_errors	ENST00000408967	ensembl	human	known	74_37	missense	81.58	7	31	SNP	0.000	A	A	144909318	C	A	144909318	3	1	180	1	0	0	0	0	1	0	0	0	4109	912	32	3	125	3	CXorf1	23	144909318	Missense_Mutation	SNP	C	TCGA-XP-A8T8-01A-11D-A36J-09	26304866	144909318	10361242	241	44900											
TAS1R1	80835	genome.wustl.edu	37	chr1	6634734	6634734	+	Missense_Mutation	SNP	A	A	T	1	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	gacgctcagcgtgaagcggcAgtatccctctttcctgcgca	7	9	11	14	4	2	1	1	1	1	0	4	2	4	1	2	1	3	4	2	1	2	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:6634734A>T	ENST00000333172.6	+	3	735	c.542A>T	c.(541-543)cAg>cTg	p.Q181L	TAS1R1_ENST00000328191.4_Missense_Mutation_p.Q181L|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	181					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)		GTGAAGCGGCAGTATCCCTCT	0.587																																																	0													91	86	87					1																	6634734		2203	4300	6503	SO:0001583	missense	0				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.542A>T	1.37:g.6634734A>T	ENSP00000331867:p.Gln181Leu		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.Q181L	ENST00000333172.6	37	c.542	CCDS81.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.288|2.288	-0.363059|-0.363059	0.05103|0.05103	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000333172;ENST00000328191|ENST00000411823	D;D|.	0.83419|.	-1.72;-1.72|.	5.12|5.12	-0.386|-0.386	0.12466|0.12466	Extracellular ligand-binding receptor (1);|.	1.284890|.	0.05021|.	N|.	0.472795|.	T|T	0.20455|0.20455	0.0492|0.0492	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.29671|0.29671	-1.0004|-1.0004	10|5	0.09338|.	T|.	0.73|.	.|.	7.0837|7.0837	0.25245|0.25245	0.3069:0.0:0.0759:0.6172|0.3069:0.0:0.0759:0.6172	.|.	181;181|.	Q7RTX1-3;Q7RTX1|.	.;TS1R1_HUMAN|.	L|C	181|107	ENSP00000331867:Q181L;ENSP00000327705:Q181L|.	ENSP00000327705:Q181L|.	Q|S	+|+	2|1	0|0	TAS1R1|TAS1R1	6557321|6557321	0.000000|0.000000	0.05858|0.05858	0.017000|0.017000	0.16124|0.16124	0.800000|0.800000	0.45204|0.45204	0.448000|0.448000	0.21726|0.21726	-0.376000|-0.376000	0.07943|0.07943	0.459000|0.459000	0.35465|0.35465	CAG|AGT	TAS1R1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000173662		0.587	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	HGNC	protein_coding	OTTHUMT00000004211.1	-	0	60	0	A			6634734	1	tier1	-	no_errors	ENST00000333172	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.015	T	T	6634734	A	T	6634734	3	4	181	1	0	0	0	0	1	0	0	0	15609	188	7	5	552	5	TAS1R1	1	6634734	Missense_Mutation	SNP	A	TCGA-Z6-A8JD-01A-11D-A36J-09		6634734	242615887	1	44901											
CASZ1	54897	genome.wustl.edu	37	chr1	10708141	10708141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtctcggcggccgaggccgGaaaggcagcctctgtgtttc	5	8	16	12	4	2	0	0	0	2	0	4	2	2	1	3	6	1	2	3	6	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:10708141G>A	ENST00000377022.3	-	16	3531	c.3214C>T	c.(3214-3216)Ccg>Tcg	p.P1072S	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.P1072S	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1072					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)		GCCGAGGCCGGAAAGGCAGCC	0.657																																																	0													27	22	24					1																	10708141		2180	4273	6453	SO:0001583	missense	0			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.3214C>T	1.37:g.10708141G>A	ENSP00000366221:p.Pro1072Ser		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1072S	ENST00000377022.3	37	c.3214	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420235	0.25552	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	5.69	5.69	0.88448	.	0.111909	0.40469	N	0.001084	T	0.35278	0.0926	N	0.13043	0.29	0.35560	D	0.804594	B;B	0.23377	0.008;0.084	B;B	0.18561	0.005;0.022	T	0.40059	-0.9583	9	0.28530	T	0.3	-22.4355	13.4902	0.61390	0.0804:0.0:0.9196:0.0	.	1072;1072	Q86V15-2;Q86V15	.;CASZ1_HUMAN	S	1072	.	ENSP00000339445:P1072S	P	-	1	0	CASZ1	10630728	1.000000	0.71417	0.989000	0.46669	0.069000	0.16628	3.205000	0.51090	2.682000	0.91365	0.655000	0.94253	CCG	CASZ1	-	NULL	ENSG00000130940		0.657	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0	102	0	G	NM_017766		10708141	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	missense	19.23	83	20	SNP	1.000	A	A	10708141	G	A	10708141	3	1	181	1	0	0	0	0	1	0	0	0	2692	1174	41	3	2093	3	CASZ1	1	10708141	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	4073407	10708141	238542480	2	44902											
TNFRSF1B	7133	genome.wustl.edu	37	chr1	12252971	12252971	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatggatgcagtctgcacGtccacgtcccccacccggag	8	6	11	16	3	1	0	0	0	1	0	3	2	3	2	4	2	3	3	4	2	0	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:12252971G>A	ENST00000376259.3	+	6	692	c.603G>A	c.(601-603)acG>acA	p.T201T	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	201					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	CAGTCTGCACGTCCACGTCCC	0.622																																																	0													160	118	132					1																	12252971		2203	4300	6503	SO:0001819	synonymous_variant	0			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.603G>A	1.37:g.12252971G>A			B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.T201	ENST00000376259.3	37	c.603	CCDS145.1	1																																																																																			TNFRSF1B	-	NULL	ENSG00000028137		0.622	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	HGNC	protein_coding	OTTHUMT00000005133.1		0	45	0	G	NM_001066		12252971	1			no_errors	ENST00000376259	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.000	A	A	12252971	G	A	12252971	2	1	181	1	0	0	0	0	0	0	0	1	16341	1132	40	1		1	TNFRSF1B	1	12252971	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	1544830	12252971	236997650	3	44903											
HSPG2	3339	genome.wustl.edu	37	chr1	22149948	22149948	+	Frame_Shift_Del	DEL	C	C	-																															tgatgcctgaggagaatctgCccccggtcagcgtggccacg																										TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:22149948delC	ENST00000374695.3	-	97	13116	c.13037delG	c.(13036-13038)ggcfs	p.G4346fs	LDLRAD2_ENST00000543870.1_Intron|HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000344642.2_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4346	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGAGAATCTGCCCCCGGTCAG	0.716																																																	0													14	13	13					1																	22149948		2194	4286	6480	SO:0001589	frameshift_variant	0			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.13037delG	1.37:g.22149948delC	ENSP00000363827:p.Gly4346fs		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.G4346fs	ENST00000374695.3	37	c.13037	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000142798		0.716	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1		0	29	0	C	NM_005529		22149948	-1	tier1		no_errors	ENST00000374695	ensembl	human	known	74_37	frame_shift_del	10.71	25	3	DEL	1.000	-	-	22149948	C	-	22149948	7	5	181	1	0	1	0	1	0	0	0	0	7457	739	26	0	142	0	HSPG2	1	22149948	Frame_Shift_Del	DEL	C	TCGA-Z6-A8JD-01A-11D-A36J-09	9896977	22149948	227100673	4	44904											
ZMYM6	9204	genome.wustl.edu	37	chr1	35472675	35472675	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcttagtttaccctgtcGtttacaaccatcacacttgg	8	14	6	13	2	1	0	1	0	0	0	3	0	1	0	2	1	3	3	2	1	4	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:35472675G>A	ENST00000357182.4	-	12	1917	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.R564*|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.R564*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	564					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)				TTACCCTGTCGTTTACAACCA	0.333																																																	0													104	101	102					1																	35472675		2203	4300	6503	SO:0001587	stop_gained	0			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.1690C>T	1.37:g.35472675G>A	ENSP00000349708:p.Arg564*		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Nonsense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.R564*	ENST00000357182.4	37	c.1690	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	G	40	7.982502	0.98594	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	.	.	.	5.02	4.04	0.47022	.	0.304513	0.31636	N	0.007319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4672	13.1682	0.59583	0.0:0.0:0.7872:0.2128	.	.	.	.	X	564	.	ENSP00000349708:R564X	R	-	1	2	ZMYM6	35245262	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.181000	0.42547	2.761000	0.94854	0.655000	0.94253	CGA	ZMYM6	-	smart_TRASH_dom	ENSG00000163867		0.333	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	-	0	84	0	G	NM_007167		35472675	-1	tier1	-	no_errors	ENST00000357182	ensembl	human	known	74_37	nonsense	17.35	81	17	SNP	0.935	A	A	35472675	G	A	35472675	4	1	181	1	0	0	0	0	0	1	0	0	17752	1153	40	1	2307	1	ZMYM6	1	35472675	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	13322727	35472675	213777946	5	44905											
ZMYM1	79830	genome.wustl.edu	37	chr1	35563128	35563128	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatttcatctgccagttCaccagttccttctaagagaa	12	13	5	11	0	4	1	2	0	2	1	5	2	5	1	3	0	2	2	3	0	3	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:35563128C>A	ENST00000373330.1	+	5	554	c.380C>A	c.(379-381)tCa>tAa	p.S127*	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Nonsense_Mutation_p.S127*			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	127						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)				TCTGCCAGTTCACCAGTTCCT	0.383																																																	0													116	115	115					1																	35563128		2048	4225	6273	SO:0001587	stop_gained	0			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.380C>A	1.37:g.35563128C>A	ENSP00000362427:p.Ser127*		D3DPR7|Q7Z3Q4	Nonsense_Mutation	SNP	pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.S127*	ENST00000373330.1	37	c.380	CCDS41302.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.515975	0.96402	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	.	.	.	5.2	2.28	0.28536	.	1.022160	0.07840	N	0.962787	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-0.022	8.324	0.32145	0.0:0.7304:0.1291:0.1405	.	.	.	.	X	127;127;52;127	.	ENSP00000352920:S127X	S	+	2	0	ZMYM1	35335715	0.000000	0.05858	0.003000	0.11579	0.800000	0.45204	0.445000	0.21677	0.421000	0.25980	0.655000	0.94253	TCA	ZMYM1	-	NULL	ENSG00000197056		0.383	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	-	0	81	0	C	NM_024772		35563128	1	tier1	-	no_errors	ENST00000359858	ensembl	human	novel	74_37	nonsense	16.04	89	17	SNP	0.107	A	A	35563128	C	A	35563128	4	1	181	1	0	0	0	0	0	1	0	0	17747	838	29	3	390	3	ZMYM1	1	35563128	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	90453	35563128	213687493	6	44906											
TMEM59	9528	genome.wustl.edu	37	chr1	54518838	54518838	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagttgggtcctcacccaGaggctccccttcggcgccgc	4	7	11	19	3	1	1	1	0	0	1	4	1	3	1	6	3	0	2	6	3	0	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:54518838G>T	ENST00000234831.5	-	1	273	c.24C>A	c.(22-24)ctC>ctA	p.L8L	TCEANC2_ENST00000234827.1_5'Flank|TCEANC2_ENST00000371331.1_5'Flank|TMEM59_ENST00000371337.3_Silent_p.L8L|TMEM59_ENST00000371341.1_Intron|MIR4781_ENST00000585250.1_RNA	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	8					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCCTCACCCAGAGGCTCCCCT	0.642																																																	0													41	46	44					1																	54518838		2203	4300	6503	SO:0001819	synonymous_variant	0			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 8"	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.24C>A	1.37:g.54518838G>T			B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Silent	SNP	pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m	p.L8	ENST00000234831.5	37	c.24	CCDS586.1	1																																																																																			TMEM59	-	NULL	ENSG00000116209		0.642	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM59	HGNC	protein_coding	OTTHUMT00000023254.2	-	0	124	0	G	NM_004872		54518838	-1	tier1	-	no_errors	ENST00000234831	ensembl	human	known	74_37	silent	22.14	102	29	SNP	0.806	T	T	54518838	G	T	54518838	2	4	181	1	0	0	0	0	0	0	0	1	16232	929	33	3		3	TMEM59	1	54518838	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	18955710	54518838	194731783	7	44907											
PGM1	5236	genome.wustl.edu	37	chr1	64089294	64089294	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggaaaagccatgctatctgGagaatttcatccagagtata	15	10	9	7	0	2	2	1	0	1	2	3	4	3	3	2	2	2	2	2	2	6	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:64089294G>C	ENST00000371084.3	+	2	459				PGM1_ENST00000540265.1_Intron|PGM1_ENST00000371083.4_Missense_Mutation_p.E55Q	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1						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						ATGCTATCTGGAGAATTTCAT	0.423																																																	0													70	71	71					1																	64089294		876	1991	2867	SO:0001627	intron_variant	0			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.247-5802G>C	1.37:g.64089294G>C			B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.E55Q	ENST00000371084.3	37	c.163	CCDS625.1	1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574020	0.45902	.	.	ENSG00000079739	ENST00000371083	T	0.63744	-0.06	4.83	3.83	0.44106	.	.	.	.	.	T	0.52917	0.1764	M	0.75085	2.285	0.80722	D	1	P	0.39920	0.695	B	0.40101	0.319	T	0.62034	-0.6939	9	0.54805	T	0.06	-25.5408	12.2639	0.54665	0.0:0.3731:0.6269:0.0	.	55	P36871-2	.	Q	55	ENSP00000360124:E55Q	ENSP00000360124:E55Q	E	+	1	0	PGM1	63861882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.319000	0.72871	2.618000	0.88619	0.557000	0.71058	GAG	PGM1	-	pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000079739		0.423	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM1	HGNC	protein_coding	OTTHUMT00000024868.1	-	0	75	0	G	NM_002633		64089294	1	tier1	-	no_errors	ENST00000371083	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	C	C	64089294	G	C	64089294	1	2	181	0	1	0	0	0	0	0	0	0	11836	1175	41	5		5	PGM1	1	64089294	Intron	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	9570456	64089294	185161327	8	44908											
NEXN	91624	genome.wustl.edu	37	chr1	78408248	78408248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatggttcaagaagcctCttaaaaacacatcagttgta	14	11	6	10	0	3	1	2	0	1	1	4	1	4	1	2	1	2	3	2	1	6	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:78408248C>A	ENST00000334785.7	+	13	1946	c.1762C>A	c.(1762-1764)Ctt>Att	p.L588I	NEXN_ENST00000330010.8_Missense_Mutation_p.L524I|NEXN_ENST00000457030.1_Missense_Mutation_p.L574I|NEXN_ENST00000480732.2_3'UTR|FUBP1_ENST00000489495.1_5'Flank	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CAAGAAGCCTCTTAAAAACAC	0.438																																																	0													101	98	99					1																	78408248		1899	4107	6006	SO:0001583	missense	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1762C>A	1.37:g.78408248C>A	ENSP00000333938:p.Leu588Ile			Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.L588I	ENST00000334785.7	37	c.1762	CCDS41351.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887393	0.52014	.	.	ENSG00000162614	ENST00000457030;ENST00000330010;ENST00000334785	T;T;T	0.48836	0.8;0.8;0.8	5.84	3.92	0.45320	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41938	D	0.000795	T	0.52468	0.1736	L	0.58969	1.84	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.995;0.999	T	0.53535	-0.8425	10	0.41790	T	0.15	-10.0605	13.2456	0.60022	0.0:0.8683:0.0:0.1317	.	574;588;524	Q0ZGT2-2;Q0ZGT2;B4DPZ7	.;NEXN_HUMAN;.	I	574;524;588	ENSP00000388048:L574I;ENSP00000327363:L524I;ENSP00000333938:L588I	ENSP00000327363:L524I	L	+	1	0	NEXN	78180836	0.995000	0.38212	0.838000	0.33150	0.090000	0.18270	2.721000	0.47260	0.766000	0.33244	0.591000	0.81541	CTT	NEXN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000162614		0.438	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	-	0	79	0	C	NM_144573		78408248	1	tier1	-	no_errors	ENST00000334785	ensembl	human	known	74_37	missense	9.57	104	11	SNP	0.985	A	A	78408248	C	A	78408248	3	1	181	1	0	0	0	0	1	0	0	0	10394	913	32	3	1808	3	NEXN	1	78408248	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	14318954	78408248	170842373	9	44909											
SYDE2	84144	genome.wustl.edu	37	chr1	85624705	85624705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccacatcatttaaattttCttttgtatttaaaaagtagt	14	19	3	5	0	2	0	1	0	1	0	3	0	3	0	1	0	0	2	1	0	7	10			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:85624705C>G	ENST00000341460.5	-	7	3362	c.3313G>C	c.(3313-3315)Gaa>Caa	p.E1105Q		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1105					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)		TTTAAATTTTCTTTTGTATTT	0.373																																																	0													78	76	77					1																	85624705		1827	4080	5907	SO:0001583	missense	0			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.3313G>C	1.37:g.85624705C>G	ENSP00000340594:p.Glu1105Gln		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E1105Q	ENST00000341460.5	37	c.3313	CCDS44169.1	1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100444	0.56183	.	.	ENSG00000097096	ENST00000341460	T	0.44482	0.92	6.17	6.17	0.99709	.	0.415468	0.29113	N	0.013116	T	0.34745	0.0908	L	0.57536	1.79	0.27175	N	0.960808	P	0.40083	0.702	B	0.39971	0.315	T	0.35871	-0.9771	10	0.54805	T	0.06	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1105	Q5VT97	SYDE2_HUMAN	Q	1105	ENSP00000340594:E1105Q	ENSP00000340594:E1105Q	E	-	1	0	SYDE2	85397293	0.966000	0.33281	1.000000	0.80357	0.989000	0.77384	3.359000	0.52292	2.941000	0.99782	0.655000	0.94253	GAA	SYDE2	-	NULL	ENSG00000097096		0.373	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	-	0	64	0	C			85624705	-1	tier1	-	no_errors	ENST00000341460	ensembl	human	known	74_37	missense	19.79	77	19	SNP	0.998	G	G	85624705	C	G	85624705	3	3	181	1	0	0	0	0	1	0	0	0	15483	922	32	5	275	5	SYDE2	1	85624705	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	7216457	85624705	163625916	10	44910											
COL11A1	1301	genome.wustl.edu	37	chr1	103444649	103444649	+	Silent	SNP	G	G	T	0	0	1	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	tgaccccgagggcctggtttGccagctactccctagcaaag	8	8	11	14	1	0	1	0	1	0	0	1	2	1	1	5	2	4	3	5	2	3	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:103444649G>T	ENST00000370096.3	-	33	2934	c.2622C>A	c.(2620-2622)ggC>ggA	p.G874G	COL11A1_ENST00000512756.1_Silent_p.G758G|COL11A1_ENST00000358392.2_Silent_p.G886G|COL11A1_ENST00000353414.4_Silent_p.G835G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	874	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)		GGCCTGGTTTGCCAGCTACTC	0.398																																																	0													49	53	52					1																	103444649		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2622C>A	1.37:g.103444649G>T			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G886	ENST00000370096.3	37	c.2658	CCDS778.1	1																																																																																			COL11A1	-	NULL	ENSG00000060718		0.398	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0	59	0	G	NM_080630		103444649	-1			no_errors	ENST00000358392	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T	T	103444649	G	T	103444649	2	4	181	1	0	0	0	0	0	0	0	1	3674	1306	46	3		3	COL11A1	1	103444649	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	17819944	103444649	145805972	11	44911											
COL11A1	1301	genome.wustl.edu	37	chr1	103491477	103491477	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatttagtagccactgtcCtcatcttctttttgaaattg	8	19	6	8	0	3	2	1	2	2	0	4	2	4	2	2	0	1	1	2	0	3	8	rs569376136		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:103491477C>A	ENST00000370096.3	-	6	1210				COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000358392.2_Missense_Mutation_p.R271M|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						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)		AGCCACTGTCCTCATCTTCTT	0.338																																																	0													116	122	120					1																	103491477		2202	4300	6502	SO:0001627	intron_variant	0			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.897+294G>T	1.37:g.103491477C>A			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.R271M	ENST00000370096.3	37	c.812	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486128	0.26686	.	.	ENSG00000060718	ENST00000358392;ENST00000427239	T;T	0.72282	-0.6;-0.64	5.5	0.346	0.16017	.	2.027010	0.01522	N	0.018417	T	0.53867	0.1823	L	0.47716	1.5	0.80722	D	1	P	0.41848	0.763	B	0.44224	0.444	T	0.48281	-0.9049	10	0.37606	T	0.19	.	8.9387	0.35715	0.0:0.5503:0.0:0.4497	.	271	P12107-2	.	M	271	ENSP00000351163:R271M;ENSP00000408640:R271M	ENSP00000351163:R271M	R	-	2	0	COL11A1	103264065	0.985000	0.35326	0.831000	0.32960	0.995000	0.86356	0.155000	0.16362	-0.181000	0.10619	0.638000	0.83543	AGG	COL11A1	-	NULL	ENSG00000060718		0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	62	0	C	NM_080630		103491477	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.997	A	A	103491477	C	A	103491477	1	1	181	0	1	0	0	0	0	0	0	0	3674	681	24	3		3	COL11A1	1	103491477	Intron	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	46828	103491477	145759144	12	44912											
IGSF3	3321	genome.wustl.edu	37	chr1	117156526	117156526	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgcaggtggaagatggtGaggcggaaggtggtcctccc	7	7	19	8	1	0	2	0	1	0	1	2	4	2	4	2	8	1	2	2	8	2	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:117156526G>A	ENST00000369486.3	-	4	1458	c.693C>T	c.(691-693)ctC>ctT	p.L231L	IGSF3_ENST00000369483.1_Silent_p.L231L|IGSF3_ENST00000318837.6_Silent_p.L231L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	231	Ig-like C2-type 2.				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)		GGAAGATGGTGAGGCGGAAGG	0.607																																																	0													37	36	36					1																	117156526		2203	4299	6502	SO:0001819	synonymous_variant	0			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.693C>T	1.37:g.117156526G>A			A6NJZ6|A6NMC7	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L231	ENST00000369486.3	37	c.693	CCDS30813.1	1																																																																																			IGSF3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143061		0.607	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	-	0	86	0	G	NM_001542		117156526	-1	tier1	-	no_errors	ENST00000318837	ensembl	human	known	74_37	silent	9.82	100	11	SNP	1.000	A	A	117156526	G	A	117156526	2	1	181	1	0	0	0	0	0	0	0	1	7628	1277	45	3		3	IGSF3	1	117156526	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	13665049	117156526	132094095	13	44913											
SMG5	23381	genome.wustl.edu	37	chr1	156231134	156231134	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acccactcaccagactcctgGagttcaccagcagcaggcaa	12	5	8	16	0	2	1	2	0	0	1	3	2	3	2	4	2	2	4	4	2	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:156231134G>T	ENST00000361813.5	-	14	2241	c.2097C>A	c.(2095-2097)ctC>ctA	p.L699L	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	699					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CAGACTCCTGGAGTTCACCAG	0.572																																																	0													103	96	98					1																	156231134		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2097C>A	1.37:g.156231134G>T			D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	pfam_EST1,smart_PIN_dom	p.L699	ENST00000361813.5	37	c.2097	CCDS1137.1	1																																																																																			SMG5	-	NULL	ENSG00000198952		0.572	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1		0	76	0	G	NM_015327		156231134	-1			no_errors	ENST00000361813	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.978	T	T	156231134	G	T	156231134	2	4	181	1	0	0	0	0	0	0	0	1	14841	1161	41	3		3	SMG5	1	156231134	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	39074608	156231134	93019487	14	44914											
FCRL3	115352	genome.wustl.edu	37	chr1	157650813	157650813	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccattggggctagtggttTagagtgagtgggctcttgag	6	13	16	6	0	1	3	0	2	1	1	2	3	2	3	1	4	0	3	1	4	2	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:157650813T>G	ENST00000368184.3	-	12	2206	c.1915A>C	c.(1915-1917)Aaa>Caa	p.K639Q	FCRL3_ENST00000368186.5_Missense_Mutation_p.K639Q|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	639						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTAGTGGTTTAGAGTGAGTG	0.577																																																	0													89	76	81					1																	157650813		2203	4300	6503	SO:0001583	missense	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1915A>C	1.37:g.157650813T>G	ENSP00000357167:p.Lys639Gln		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K645Q	ENST00000368184.3	37	c.1933	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	T	9.516	1.106962	0.20714	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.50548	0.76;0.74	4.78	0.28	0.15682	.	.	.	.	.	T	0.12390	0.0301	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26318	0.079;0.146;0.129	B;B;B	0.31946	0.045;0.05;0.138	T	0.33111	-0.9881	9	0.40728	T	0.16	.	6.0591	0.19828	0.0:0.4961:0.0:0.5039	.	639;544;639	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	Q	639	ENSP00000357169:K639Q;ENSP00000357167:K639Q	ENSP00000292392:K639Q	K	-	1	0	FCRL3	155917437	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.218000	0.09240	0.216000	0.20781	-0.182000	0.12963	AAA	FCRL3	-	NULL	ENSG00000160856		0.577	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	-	0	60	0	T	NM_052939		157650813	-1	tier1	-	no_errors	ENST00000492769	ensembl	human	known	74_37	missense	18.33	49	11	SNP	0.001	G	G	157650813	T	G	157650813	3	3	181	1	0	0	0	0	1	0	0	0	5818	1763	61	4	305	4	FCRL3	1	157650813	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	1419679	157650813	91599808	15	44915											
KCNJ9	3765	genome.wustl.edu	37	chr1	160054107	160054107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	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	ggagcacctggaggacaccgCgtggacgccgtgcgtcaaca	9	4	15	13	5	1	0	1	0	0	0	1	4	1	4	3	4	3	1	3	4	1	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:160054107C>G	ENST00000368088.3	+	2	529	c.287C>G	c.(286-288)gCg>gGg	p.A96G		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	96					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGACACCGCGTGGACGCCG	0.657																																																	0													46	41	43					1																	160054107		2203	4300	6503	SO:0001583	missense	0			U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.287C>G	1.37:g.160054107C>G	ENSP00000357067:p.Ala96Gly		Q5JW75	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3	p.A96G	ENST00000368088.3	37	c.287	CCDS1194.1	1	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660737	0.14645	.	.	ENSG00000162728	ENST00000368088	D	0.94092	-3.35	4.71	4.71	0.59529	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.294931	0.31709	N	0.007184	T	0.59918	0.2229	N	0.00456	-1.48	0.28719	N	0.903107	B	0.10296	0.003	B	0.18871	0.023	T	0.49466	-0.8937	10	0.05525	T	0.97	.	16.4327	0.83859	0.0:1.0:0.0:0.0	.	96	Q92806	IRK9_HUMAN	G	96	ENSP00000357067:A96G	ENSP00000357067:A96G	A	+	2	0	KCNJ9	158320731	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.381000	0.20619	2.151000	0.67156	0.430000	0.28490	GCG	KCNJ9	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir	ENSG00000162728		0.657	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ9	HGNC	protein_coding	OTTHUMT00000060628.1	-	0	96	0	C	NM_004983		160054107	1	tier1	-	no_errors	ENST00000368088	ensembl	human	known	74_37	missense	6.25	75	5	SNP	0.969	G	G	160054107	C	G	160054107	3	3	181	1	0	0	0	0	1	0	0	0	8084	768	27	5	289	5	KCNJ9	1	160054107	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2403294	160054107	89196514	16	44916											
VANGL2	57216	genome.wustl.edu	37	chr1	160388955	160388955	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccaccctggcactgctgtCtttcctcacgcctctggcct	3	11	9	18	1	3	0	1	0	2	0	4	0	4	0	5	3	1	2	5	3	0	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:160388955C>G	ENST00000368061.2	+	4	830	c.356C>G	c.(355-357)tCt>tGt	p.S119C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	119					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTGCTGTCTTTCCTCACG	0.662																																																	0													63	62	63					1																	160388955		2203	4300	6503	SO:0001583	missense	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.356C>G	1.37:g.160388955C>G	ENSP00000357040:p.Ser119Cys		D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.S119C	ENST00000368061.2	37	c.356	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186027	0.38609	.	.	ENSG00000162738	ENST00000368061	T	0.80994	-1.44	4.93	4.93	0.64822	.	0.132384	0.52532	D	0.000075	T	0.70141	0.3190	L	0.55990	1.75	0.40684	D	0.98233	B	0.06786	0.001	B	0.08055	0.003	T	0.71279	-0.4640	10	0.66056	D	0.02	-12.7971	17.0673	0.86562	0.0:1.0:0.0:0.0	.	119	Q9ULK5	VANG2_HUMAN	C	119	ENSP00000357040:S119C	ENSP00000357040:S119C	S	+	2	0	VANGL2	158655579	0.189000	0.23263	0.332000	0.25469	0.696000	0.40369	1.095000	0.30964	2.433000	0.82419	0.563000	0.77884	TCT	VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.662	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	-	0	21	0	C	NM_020335		160388955	1	tier1	-	no_errors	ENST00000368061	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.603	G	G	160388955	C	G	160388955	3	3	181	1	0	0	0	0	1	0	0	0	17169	913	32	5	366	5	VANGL2	1	160388955	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	334848	160388955	88861666	17	44917											
LHX4	89884	genome.wustl.edu	37	chr1	180243439	180243439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgggacaggacaatcctatCaggacttgagggatgggagc	12	6	15	8	1	1	1	1	1	0	0	2	6	2	6	1	5	1	0	1	5	2	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:180243439C>G	ENST00000263726.2	+	6	1142	c.898C>G	c.(898-900)Cag>Gag	p.Q300E	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	300					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						ACAATCCTATCAGGACTTGAG	0.542																																																	0													132	118	122					1																	180243439		2203	4300	6503	SO:0001583	missense	0			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.898C>G	1.37:g.180243439C>G	ENSP00000263726:p.Gln300Glu		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.Q300E	ENST00000263726.2	37	c.898	CCDS1338.1	1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957054	0.53293	.	.	ENSG00000121454	ENST00000263726	D	0.87887	-2.31	5.53	5.53	0.82687	.	0.057191	0.64402	D	0.000001	D	0.82486	0.5047	L	0.36672	1.1	0.53005	D	0.999966	B	0.22480	0.07	B	0.20184	0.028	T	0.76974	-0.2760	10	0.24483	T	0.36	.	18.2358	0.89949	0.0:1.0:0.0:0.0	.	300	Q969G2	LHX4_HUMAN	E	300	ENSP00000263726:Q300E	ENSP00000263726:Q300E	Q	+	1	0	LHX4	178510062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.522000	0.67092	2.593000	0.87608	0.655000	0.94253	CAG	LHX4	-	NULL	ENSG00000121454		0.542	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX4	HGNC	protein_coding	OTTHUMT00000084995.2	-	0	83	0	C	NM_033343		180243439	1	tier1	-	no_errors	ENST00000263726	ensembl	human	known	74_37	missense	23.26	66	20	SNP	1.000	G	G	180243439	C	G	180243439	3	3	181	1	0	0	0	0	1	0	0	0	8802	827	29	5	920	5	LHX4	1	180243439	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	19854484	180243439	69007182	18	44918											
ZNF281	23528	genome.wustl.edu	37	chr1	200378496	200378496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acccccaggaggtcctctgcGaggggaaggccgcggctgac	7	4	16	14	3	1	1	0	1	1	0	2	4	2	3	4	6	1	1	4	6	1	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:200378496G>C	ENST00000294740.3	-	2	462	c.338C>G	c.(337-339)tCg>tGg	p.S113W	ZNF281_ENST00000367352.3_Missense_Mutation_p.S77W|ZNF281_ENST00000367353.1_Missense_Mutation_p.S113W	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	113					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						GGTCCTCTGCGAGGGGAAGGC	0.657																																																	0													6	6	6					1																	200378496		2086	4085	6171	SO:0001583	missense	0			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.338C>G	1.37:g.200378496G>C	ENSP00000294740:p.Ser113Trp		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S113W	ENST00000294740.3	37	c.338	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013856	0.54468	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352	T;T;T	0.08282	3.11;3.11;3.12	5.09	4.17	0.49024	.	0.615366	0.13063	N	0.416698	T	0.03827	0.0108	N	0.08118	0	0.46167	D	0.998903	P;P	0.46987	0.888;0.888	B;B	0.31101	0.124;0.124	T	0.54309	-0.8313	10	0.39692	T	0.17	-12.9529	12.2014	0.54328	0.0801:0.0:0.9199:0.0	.	77;113	A6NF48;Q9Y2X9	.;ZN281_HUMAN	W	113;113;77	ENSP00000294740:S113W;ENSP00000356322:S113W;ENSP00000356321:S77W	ENSP00000294740:S113W	S	-	2	0	ZNF281	198645119	1.000000	0.71417	0.951000	0.38953	0.996000	0.88848	4.090000	0.57693	1.269000	0.44280	0.655000	0.94253	TCG	ZNF281	-	NULL	ENSG00000162702		0.657	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	-	0	99	0	G	NM_012482		200378496	-1	tier1	-	no_errors	ENST00000294740	ensembl	human	known	74_37	missense	25.00	63	21	SNP	0.961	C	C	200378496	G	C	200378496	3	2	181	1	0	0	0	0	1	0	0	0	17866	1059	37	5	2353	5	ZNF281	1	200378496	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	20135057	200378496	48872125	19	44919											
LGTN	1939	genome.wustl.edu	37	chr1	206767028	206767028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatctgcacctgaaggctgtCcttggccccaggggcaggat	7	8	14	12	0	1	1	0	1	1	0	2	3	2	2	4	5	1	3	4	5	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:206767028C>T	ENST00000271764.2	-	14	1832	c.1624G>A	c.(1624-1626)Gac>Aac	p.D542N	EIF2D_ENST00000367114.3_Missense_Mutation_p.D418N|EIF2D_ENST00000472709.2_Intron	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	542	SUI1. {ECO:0000255|PROSITE- ProRule:PRU00200}.				formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGAAGGCTGTCCTTGGCCCCA	0.592																																																	0													97	81	87					1																	206767028		2203	4300	6503	SO:0001583	missense	0			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1624G>A	1.37:g.206767028C>T	ENSP00000271764:p.Asp542Asn		Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1	p.D542N	ENST00000271764.2	37	c.1624	CCDS1465.1	1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173088	0.57584	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.32023	1.47;1.47	5.68	5.68	0.88126	Translation initiation factor SUI1 (3);	0.043265	0.85682	D	0.000000	T	0.29491	0.0735	L	0.42245	1.32	0.58432	D	0.999999	B;B	0.24426	0.103;0.014	B;B	0.25140	0.029;0.058	T	0.06232	-1.0838	10	0.15952	T	0.53	-8.1287	18.7742	0.91904	0.0:1.0:0.0:0.0	.	418;542	P41214-2;P41214	.;EIF2D_HUMAN	N	418;542	ENSP00000356081:D418N;ENSP00000271764:D542N	ENSP00000271764:D542N	D	-	1	0	EIF2D	204833651	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.867000	0.69597	2.676000	0.91093	0.563000	0.77884	GAC	EIF2D	-	pfam_TIF_SUI1,superfamily_TIF_SUI1,pfscan_TIF_SUI1	ENSG00000143486		0.592	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2D	HGNC	protein_coding	OTTHUMT00000088475.1	-	0	71	0	C	NM_006893		206767028	-1	tier1	-	no_errors	ENST00000271764	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T	T	206767028	C	T	206767028	3	4	181	1	0	0	0	0	1	0	0	0	8789	855	30	3	138	3	LGTN	1	206767028	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	6388532	206767028	42483593	20	44920											
PROX1	5629	genome.wustl.edu	37	chr1	214169993	214169993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattttttgctaaggcaagaGcaacgttttttagtgccatg	10	15	9	7	1	0	1	0	0	0	1	0	1	0	1	1	1	4	4	1	1	4	7			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:214169993G>A	ENST00000366958.4	+	2	723	c.115G>A	c.(115-117)Gca>Aca	p.A39T	PROX1_ENST00000435016.1_Missense_Mutation_p.A39T|PROX1_ENST00000498508.2_Missense_Mutation_p.A39T|PROX1_ENST00000261454.4_Missense_Mutation_p.A39T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	39					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)		TAAGGCAAGAGCAACGTTTTT	0.478																																																	0													127	113	118					1																	214169993		2203	4300	6503	SO:0001583	missense	0			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.115G>A	1.37:g.214169993G>A	ENSP00000355925:p.Ala39Thr		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.A39T	ENST00000366958.4	37	c.115	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700924	0.68501	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48201	0.83;0.82;0.83;0.83	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	P	0.45998	0.5	T	0.49390	-0.8945	10	0.66056	D	0.02	-2.8466	20.3626	0.98863	0.0:0.0:1.0:0.0	.	39	Q92786	PROX1_HUMAN	T	39	ENSP00000420283:A39T;ENSP00000355925:A39T;ENSP00000400694:A39T;ENSP00000261454:A39T	ENSP00000261454:A39T	A	+	1	0	PROX1	212236616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.172000	0.71932	2.885000	0.99019	0.655000	0.94253	GCA	PROX1	-	NULL	ENSG00000117707		0.478	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	-	0	79	0	G	NM_002763		214169993	1	tier1	-	no_errors	ENST00000261454	ensembl	human	known	74_37	missense	12.66	69	10	SNP	1.000	A	A	214169993	G	A	214169993	3	1	181	1	0	0	0	0	1	0	0	0	12602	971	34	3	117	3	PROX1	1	214169993	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	7402965	214169993	35080628	21	44921											
URB2	9816	genome.wustl.edu	37	chr1	229771164	229771164	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaggggatgtgaagacGggagccatgaagaaccttct	13	6	14	8	1	1	4	0	2	1	2	1	6	1	6	2	3	3	1	2	3	4	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:229771164G>T	ENST00000258243.2	+	4	940	c.804G>T	c.(802-804)acG>acT	p.T268T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	268						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						ATGTGAAGACGGGAGCCATGA	0.547																																																	0													59	59	59					1																	229771164		2203	4300	6503	SO:0001819	synonymous_variant	0			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.804G>T	1.37:g.229771164G>T			Q5VYC9	Silent	SNP	pfam_Urb2/Npa2_C	p.T268	ENST00000258243.2	37	c.804	CCDS31052.1	1																																																																																			URB2	-	NULL	ENSG00000135763		0.547	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	-	0	41	0	G	NM_014777		229771164	1	tier1	-	no_errors	ENST00000258243	ensembl	human	known	74_37	silent	14.29	36	6	SNP	0.577	T	T	229771164	G	T	229771164	2	4	181	1	0	0	0	0	0	0	0	1	17074	1103	39	2		2	URB2	1	229771164	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	15601171	229771164	19479457	22	44922											
ARID4B	51742	genome.wustl.edu	37	chr1	235357397	235357397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtatcagagtttttggcatCagtgagatccagtttggata	11	14	11	5	0	2	2	2	1	0	2	3	4	3	3	1	2	0	4	1	2	2	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:235357397C>G	ENST00000264183.3	-	19	2553	c.2056G>C	c.(2056-2058)Gat>Cat	p.D686H	ARID4B_ENST00000366603.2_Missense_Mutation_p.D686H|ARID4B_ENST00000349213.3_Missense_Mutation_p.D600H	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	686					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTTGGCATCAGTGAGATCC	0.378																																																	0													176	167	170					1																	235357397		2203	4300	6503	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2056G>C	1.37:g.235357397C>G	ENSP00000264183:p.Asp686His		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.D686H	ENST00000264183.3	37	c.2056	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554673	0.86231	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.25250	1.85;1.81;1.81	5.22	5.22	0.72569	Chromo domain-like (1);	0.196102	0.53938	D	0.000048	T	0.30854	0.0778	N	0.14661	0.345	0.47584	D	0.999464	D;P;D;P	0.63880	0.98;0.937;0.993;0.895	P;P;P;P	0.58873	0.789;0.694;0.847;0.498	T	0.07195	-1.0785	9	.	.	.	-23.877	19.1448	0.93461	0.0:1.0:0.0:0.0	.	367;686;600;686	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	H	686;600;686;686	ENSP00000264184:D600H;ENSP00000355562:D686H;ENSP00000264183:D686H	.	D	-	1	0	ARID4B	233424020	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.557000	0.73937	2.596000	0.87737	0.555000	0.69702	GAT	ARID4B	-	superfamily_Chromodomain-like	ENSG00000054267		0.378	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	-	0	110	0	C	NM_016374		235357397	-1	tier1	-	no_errors	ENST00000264183	ensembl	human	known	74_37	missense	7.97	127	11	SNP	1.000	G	G	235357397	C	G	235357397	3	3	181	1	0	0	0	0	1	0	0	0	920	826	29	5	1906	5	ARID4B	1	235357397	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	5586233	235357397	13893224	23	44923											
MTR	4548	genome.wustl.edu	37	chr1	237052504	237052504	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccacgtttattgggaccCaggtctttgaagactatgac	10	11	10	10	1	1	3	0	2	1	1	1	4	1	4	2	2	1	1	2	2	3	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:237052504C>G	ENST00000366577.5	+	28	3269	c.2875C>G	c.(2875-2877)Cag>Gag	p.Q959E	MTR_ENST00000535889.1_Missense_Mutation_p.Q908E	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	959	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				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)	TATTGGGACCCAGGTCTTTGA	0.547																																																	0													118	108	111					1																	237052504		2203	4300	6503	SO:0001583	missense	0			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.2875C>G	1.37:g.237052504C>G	ENSP00000355536:p.Gln959Glu		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.Q959E	ENST00000366577.5	37	c.2875	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908520	0.33721	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.75821	-0.97;-0.97;-0.97	5.3	4.38	0.52667	Vitamin B12-dependent methionine synthase, activation domain (2);	0.778678	0.12262	N	0.484619	T	0.66877	0.2834	L	0.46819	1.47	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	0.57797	-0.7749	10	0.48119	T	0.1	-1.4588	8.7617	0.34678	0.3633:0.5096:0.127:0.0	.	959;908;959	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	E	813;959;908;513	ENSP00000355536:Q959E;ENSP00000441845:Q908E;ENSP00000355535:Q513E	ENSP00000355535:Q513E	Q	+	1	0	MTR	235119127	0.765000	0.28485	0.806000	0.32338	0.961000	0.63080	2.622000	0.46427	1.467000	0.48044	0.655000	0.94253	CAG	MTR	-	superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH	ENSG00000116984		0.547	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0	151	0	C	NM_000254		237052504	1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	missense	18.29	134	30	SNP	0.155	G	G	237052504	C	G	237052504	3	3	181	1	0	0	0	0	1	0	0	0	9996	595	21	5	2985	5	MTR	1	237052504	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	1695107	237052504	12198117	24	44924											
FMN2	56776	genome.wustl.edu	37	chr1	240371346	240371346	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgggcataccccctccgccCccacttcccggagcgggcat	5	5	11	20	4	0	0	0	0	0	0	2	1	2	1	6	3	2	2	6	3	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:240371346C>A	ENST00000319653.9	+	5	3464	c.3234C>A	c.(3232-3234)ccC>ccA	p.P1078P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1078	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)			CCCCTCCGCCCCCACTTCCCG	0.731																																																	0													2	3	3					1																	240371346		1440	2965	4405	SO:0001819	synonymous_variant	0			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.3234C>A	1.37:g.240371346C>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P1078	ENST00000319653.9	37	c.3234	CCDS31069.2	1																																																																																			FMN2	-	pfam_Formin_homology_1,smart_FH2_Formin	ENSG00000155816		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	91	0	C	XM_371352		240371346	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	23.33	46	14	SNP	0.000	A	A	240371346	C	A	240371346	2	1	181	1	0	0	0	0	0	0	0	1	5972	610	22	3		3	FMN2	1	240371346	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	3318842	240371346	8879275	25	44925											
OR1C1	26188	genome.wustl.edu	37	chr1	247921358	247921358	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatatctatcatacgccatCacacacagaaggaggctgtc	14	8	7	12	1	3	1	2	0	1	1	4	2	3	2	1	2	1	1	1	2	4	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:247921358C>G	ENST00000408896.2	-	1	624	c.351G>C	c.(349-351)gtG>gtC	p.V117V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	117					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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CATACGCCATCACACACAGAA	0.488																																																	0													64	60	61					1																	247921358		1992	4167	6159	SO:0001819	synonymous_variant	0			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.351G>C	1.37:g.247921358C>G			B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V117	ENST00000408896.2	37	c.351	CCDS41481.1	1																																																																																			OR1C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000221888		0.488	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	HGNC	protein_coding	OTTHUMT00000096855.1	-	0	54	0	C			247921358	-1	tier1	-	no_errors	ENST00000408896	ensembl	human	known	74_37	silent	8.96	61	6	SNP	0.998	G	G	247921358	C	G	247921358	2	3	181	1	0	0	0	0	0	0	0	1	10991	813	29	5		5	OR1C1	1	247921358	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	7550012	247921358	1329263	26	44926											
OR2M2	391194	genome.wustl.edu	37	chr1	248344136	248344136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctacaccatcctcactccCatgctgaatcccctcatcta	9	12	2	18	0	4	1	2	1	2	0	7	1	7	1	5	0	2	1	5	0	3	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:248344136C>T	ENST00000359682.2	+	1	849	c.849C>T	c.(847-849)ccC>ccT	p.P283P		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, 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)	p.P283P(2)		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)			TCCTCACTCCCATGCTGAATC	0.483																																																	2	Substitution - coding silent(2)	lung(2)											180	165	170					1																	248344136		2203	4298	6501	SO:0001819	synonymous_variant	0			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.849C>T	1.37:g.248344136C>T			A3KFT4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P283	ENST00000359682.2	37	c.849	CCDS31106.1	1																																																																																			OR2M2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000198601		0.483	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	-	0	107	0	C	NM_001004688		248344136	1	tier1	-	no_errors	ENST00000359682	ensembl	human	known	74_37	silent	7.58	122	10	SNP	0.030	T	T	248344136	C	T	248344136	2	4	181	1	0	0	0	0	0	0	0	1	11049	581	21	3		3	OR2M2	1	248344136	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	422778	248344136	906485	27	44927											
RAD51AP2	729475	genome.wustl.edu	37	chr2	17699568	17699568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagacacctccaggctcctCaagacagagccgcttgctac	12	6	8	15	1	1	3	1	0	0	3	3	3	3	3	4	1	3	3	4	1	3	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:17699568C>T	ENST00000399080.2	-	1	138	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	39										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)					CCAGGCTCCTCAAGACAGAGC	0.602																																																	0													71	76	75					2																	17699568		1907	4116	6023	SO:0001583	missense	0			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.115G>A	2.37:g.17699568C>T	ENSP00000382030:p.Glu39Lys			Missense_Mutation	SNP	NULL	p.E39K	ENST00000399080.2	37	c.115	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	C	9.095	1.002703	0.19121	.	.	ENSG00000214842	ENST00000399080	T	0.34472	1.36	3.58	1.68	0.24146	.	.	.	.	.	T	0.16300	0.0392	N	0.11560	0.145	0.09310	N	1	B	0.25563	0.129	B	0.27608	0.081	T	0.31308	-0.9948	9	0.14252	T	0.57	-0.5824	4.4105	0.11431	0.0:0.6318:0.2347:0.1335	.	39	Q09MP3	R51A2_HUMAN	K	39	ENSP00000382030:E39K	ENSP00000382030:E39K	E	-	1	0	RAD51AP2	17563049	0.001000	0.12720	0.056000	0.19401	0.776000	0.43924	0.410000	0.21098	0.465000	0.27167	0.591000	0.81541	GAG	RAD51AP2	-	NULL	ENSG00000214842		0.602	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	HGNC	protein_coding	OTTHUMT00000323801.3		0	75	0	C	NM_001099218		17699568	-1			no_errors	ENST00000399080	ensembl	human	known	74_37	missense	6.10	77	5	SNP	0.061	T	T	17699568	C	T	17699568	3	4	181	1	0	0	0	0	1	0	0	0	13032	835	29	3	3376	3	RAD51AP2	2	17699568	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09		17699568	225499805	28	44928											
BIRC6	57448	genome.wustl.edu	37	chr2	32689617	32689617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttacatcagacaacagctgCagcagctgcagcagcatcag	13	6	10	12	0	2	1	2	0	0	1	2	1	2	1	0	0	9	8	0	0	2	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:32689617C>T	ENST00000421745.2	+	25	5116	c.4982C>T	c.(4981-4983)gCa>gTa	p.A1661V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1661	Poly-Ala.				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.A1661V(1)|p.A1633V(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)					Acaacagctgcagcagctgca	0.458																																					Pancreas(94;175 1509 16028 18060 45422)												2	Substitution - Missense(2)	lung(2)											55	52	53					2																	32689617		2203	4299	6502	SO:0001583	missense	0			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.4982C>T	2.37:g.32689617C>T	ENSP00000393596:p.Ala1661Val		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.A1661V	ENST00000421745.2	37	c.4982	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	35	5.504397	0.96371	.	.	ENSG00000115760	ENST00000421745	T	0.75050	-0.9	5.93	5.93	0.95920	.	0.129398	0.51477	D	0.000093	D	0.83667	0.5304	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.81373	-0.0962	10	0.41790	T	0.15	.	19.9472	0.97186	0.0:1.0:0.0:0.0	.	1661	Q9NR09	BIRC6_HUMAN	V	1661	ENSP00000393596:A1661V	ENSP00000393596:A1661V	A	+	2	0	BIRC6	32543121	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	GCA	BIRC6	-	NULL	ENSG00000115760		0.458	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0	68	0	C	NM_016252		32689617	1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	32689617	C	T	32689617	3	4	181	1	0	0	0	0	1	0	0	0	1440	710	25	3	5080	3	BIRC6	2	32689617	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	14990049	32689617	210509756	29	44929											
THADA	63892	genome.wustl.edu	37	chr2	43514140	43514140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtaggaagatggtcttCacatgacaagatgaccagct	12	10	10	9	0	3	4	1	2	2	2	3	5	3	5	1	2	1	2	1	2	3	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:43514140C>T	ENST00000405006.4	-	35	5422	c.5071G>A	c.(5071-5073)Gaa>Aaa	p.E1691K	THADA_ENST00000405975.2_Missense_Mutation_p.E1691K|THADA_ENST00000415080.2_Missense_Mutation_p.E1372K|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1691										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)				AGATGGTCTTCACATGACAAG	0.468																																																	0													85	85	85					2																	43514140		1997	4185	6182	SO:0001583	missense	0			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.5071G>A	2.37:g.43514140C>T	ENSP00000385995:p.Glu1691Lys		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.E1691K	ENST00000405006.4	37	c.5071	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988369	0.35036	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	T;T;T	0.67865	-0.29;-0.29;-0.29	5.78	2.93	0.34026	.	0.553691	0.17977	N	0.155643	T	0.41719	0.1171	N	0.14661	0.345	0.20975	N	0.999819	B;B	0.25007	0.116;0.049	B;B	0.26202	0.067;0.026	T	0.26258	-1.0108	10	0.07030	T	0.85	.	7.364	0.26762	0.0:0.7146:0.1506:0.1348	.	1618;1691	B6ZDQ0;Q6YHU6	.;THADA_HUMAN	K	1691;1618;1372;1691	ENSP00000386088:E1691K;ENSP00000416048:E1372K;ENSP00000385995:E1691K	ENSP00000349464:E1618K	E	-	1	0	THADA	43367644	0.990000	0.36364	0.974000	0.42286	0.713000	0.41058	0.892000	0.28322	1.405000	0.46838	0.655000	0.94253	GAA	THADA	-	superfamily_ARM-type_fold	ENSG00000115970		0.468	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	-	0	61	0	C	NM_022065		43514140	-1	tier1	-	no_errors	ENST00000405006	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.964	T	T	43514140	C	T	43514140	3	4	181	1	0	0	0	0	1	0	0	0	15887	835	29	3	806	3	THADA	2	43514140	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	10824523	43514140	199685233	30	44930											
KLRAQ1	129285	genome.wustl.edu	37	chr2	48698298	48698298	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgcttcatttatttgaaAgtatcactgaggatactgtg	12	15	9	5	0	2	2	2	2	0	0	2	4	2	3	0	1	2	2	0	1	5	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:48698298A>G	ENST00000294952.8	+	10	1127	c.970A>G	c.(970-972)Agt>Ggt	p.S324G	PPP1R21_ENST00000281394.4_Missense_Mutation_p.S324G|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S324G	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	324						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTTATTTGAAAGTATCACTGA	0.398																																																	0													107	103	105					2																	48698298		2203	4300	6503	SO:0001583	missense	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.970A>G	2.37:g.48698298A>G	ENSP00000294952:p.Ser324Gly		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF	p.S324G	ENST00000294952.8	37	c.970	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026610	0.75390	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.36	5.36	0.76844	.	0.077800	0.85682	D	0.000000	T	0.67230	0.2871	L	0.43152	1.355	0.80722	D	1	D;D;D;B;B	0.71674	0.998;0.998;0.998;0.38;0.181	D;D;D;B;B	0.69654	0.965;0.965;0.957;0.114;0.074	T	0.63633	-0.6593	9	0.28530	T	0.3	-13.46	15.5299	0.75952	1.0:0.0:0.0:0.0	.	324;324;324;324;324	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	G	324	.	ENSP00000281394:S324G	S	+	1	0	KLRAQ1	48551802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.505000	0.73708	2.254000	0.74563	0.459000	0.35465	AGT	PPP1R21	-	pfam_KLRAQ/TTKRSYEDQ_C	ENSG00000162869		0.398	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	-	0	93	0	A	NM_152994		48698298	1	tier1	-	no_errors	ENST00000294952	ensembl	human	known	74_37	missense	11.11	88	11	SNP	1.000	G	G	48698298	A	G	48698298	3	3	181	1	0	0	0	0	1	0	0	0	8440	72	3	4	1008	4	KLRAQ1	2	48698298	Missense_Mutation	SNP	A	TCGA-Z6-A8JD-01A-11D-A36J-09	5184158	48698298	194501075	31	44931											
MTIF2	4528	genome.wustl.edu	37	chr2	55489519	55489519	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccatacttctaccaccttTttagattttgttgaagataa	12	17	4	8	0	1	3	0	1	1	2	2	3	2	3	3	0	2	1	3	0	5	10			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:55489519T>C	ENST00000263629.4	-	5	579	c.264A>G	c.(262-264)aaA>aaG	p.K88K	MTIF2_ENST00000394600.3_Silent_p.K88K|MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000403721.1_Silent_p.K88K	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	88					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						CTACCACCTTTTTAGATTTTG	0.328																																																	0													210	217	215					2																	55489519		2203	4300	6503	SO:0001819	synonymous_variant	0			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.264A>G	2.37:g.55489519T>C			D6W5D0	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom	p.K88	ENST00000263629.4	37	c.264	CCDS1853.1	2																																																																																			MTIF2	-	NULL	ENSG00000085760		0.328	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	-	0	70	0	T	NM_002453		55489519	-1	tier1	-	no_errors	ENST00000263629	ensembl	human	known	74_37	silent	12.37	85	12	SNP	0.999	C	C	55489519	T	C	55489519	2	2	181	1	0	0	0	0	0	0	0	1	9972	1838	64	4		4	MTIF2	2	55489519	Silent	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	6791221	55489519	187709854	32	44932											
XPO1	7514	genome.wustl.edu	37	chr2	61726050	61726051	+	Splice_Site	INS	-	-	A																															gagaattcattgcacatgctINSaaaaaaaaaaacacacaaaa																								rs372688892		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:61726050_61726051insA	ENST00000401558.2	-	8	1318		c.e8-2		XPO1_ENST00000406957.1_Splice_Site|XPO1_ENST00000404992.2_Splice_Site	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1						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)			TTGCACATGCTAAAAAAAAAAA	0.262			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0																																										SO:0001630	splice_region_variant	0			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.591-2->T	2.37:g.61726061_61726061dupA			A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Splice_Site	INS	-	e7-2	ENST00000401558.2	37	c.591-3_591-2	CCDS33205.1	2																																																																																			XPO1	-	-	ENSG00000082898		0.262	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3		0	28	0	-	NM_003400	Intron	61726051	-1	tier1		no_errors	ENST00000401558	ensembl	human	known	74_37	splice_site_ins	12.82	34	5	INS	1.000:0.996	A	A	61726051	-	A	61726050	8	5	181	1	0	1	1	0	0	0	1	0	17494	1536	53	0	2698	0	XPO1	2	61726050	Splice_Site	INS	-	TCGA-Z6-A8JD-01A-11D-A36J-09	6236531	61726050	181473323	33	44933											
ARHGAP25	9938	genome.wustl.edu	37	chr2	69015070	69015070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaattcctcaggagagttGctggcacaccctgtggaggt	9	11	12	9	0	1	1	1	0	0	1	2	3	2	2	2	4	1	3	2	4	2	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:69015070G>A	ENST00000295381.3	+	4	867	c.448G>A	c.(448-450)Gct>Act	p.A150T	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.A143T|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.A124T|ARHGAP25_ENST00000456116.2_Intron|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.A150T|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.A143T|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.A143T	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	150	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAGGAGAGTTGCTGGCACACC	0.547																																																	0													76	71	73					2																	69015070		2203	4300	6503	SO:0001583	missense	0			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.448G>A	2.37:g.69015070G>A	ENSP00000295381:p.Ala150Thr		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.A150T	ENST00000295381.3	37	c.448		2	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726363	0.48833	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69	5.78	2.52	0.30459	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.441395	0.25922	N	0.027430	T	0.06645	0.0170	N	0.13327	0.33	0.33787	D	0.624987	B;B;B;B;B;B	0.14438	0.01;0.001;0.003;0.003;0.01;0.001	B;B;B;B;B;B	0.23018	0.043;0.002;0.004;0.004;0.009;0.008	T	0.29671	-1.0004	10	0.12103	T	0.63	.	6.8698	0.24115	0.0898:0.0:0.6009:0.3093	.	124;150;143;143;143;150	B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;RHG25_HUMAN	T	124;150;150;143;143;143;143;134	ENSP00000439917:A124T;ENSP00000295381:A150T;ENSP00000386911:A150T;ENSP00000386863:A143T;ENSP00000386241:A143T;ENSP00000417139:A143T	ENSP00000295381:A150T	A	+	1	0	ARHGAP25	68868574	0.906000	0.30813	0.986000	0.45419	0.982000	0.71751	1.180000	0.32005	0.765000	0.33221	0.467000	0.42956	GCT	ARHGAP25	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000163219		0.547	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP25	HGNC	protein_coding			0	76	0	G	NM_014882		69015070	1			no_errors	ENST00000409202	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.925	A	A	69015070	G	A	69015070	3	1	181	1	0	0	0	0	1	0	0	0	874	1319	46	3	502	3	ARHGAP25	2	69015070	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	7289020	69015070	174184303	34	44934											
C2orf42	54980	genome.wustl.edu	37	chr2	70377611	70377611	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcaaacttgatccgcagCtcgccaatcttagattgggg	10	11	9	11	2	2	2	1	1	1	1	4	2	3	2	2	2	3	2	2	2	4	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:70377611C>T	ENST00000264434.2	-	10	1981	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	C2orf42_ENST00000420306.1_Silent_p.E534E	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	534										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGATCCGCAGCTCGCCAATCT	0.547																																																	0													118	108	112					2																	70377611		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1602G>A	2.37:g.70377611C>T			D6W5G3|Q9H629	Silent	SNP	NULL	p.E534	ENST00000264434.2	37	c.1602	CCDS1899.1	2																																																																																			C2orf42	-	NULL	ENSG00000115998		0.547	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1	-	0	93	0	C	NM_017880		70377611	-1	tier1	-	no_errors	ENST00000264434	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T	T	70377611	C	T	70377611	2	4	181	1	0	0	0	0	0	0	0	1	2173	796	28	3		3	C2orf42	2	70377611	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	1362541	70377611	172821762	35	44935											
ANKRD36	375248	genome.wustl.edu	37	chr2	97845601	97845601	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaaatcccattcaggctAcaagtgacgacaaagattct	14	10	6	11	1	3	2	2	1	1	1	4	3	4	2	1	1	1	1	1	1	4	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:97845601A>T	ENST00000461153.2	+	24	1910	c.1666A>T	c.(1666-1668)Aca>Tca	p.T556S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T556S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	556										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGACGA	0.323																																																	0																																										SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1666A>T	2.37:g.97845601A>T	ENSP00000419530:p.Thr556Ser		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T556S	ENST00000461153.2	37	c.1666	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	11.77	1.736804	0.30774	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.75477	-0.94;-0.94	1.17	-1.53	0.08611	.	.	.	.	.	T	0.76198	0.3954	L	0.42245	1.32	0.09310	N	1	P;D	0.63880	0.819;0.993	B;D	0.77557	0.213;0.99	T	0.63994	-0.6511	9	0.72032	D	0.01	.	4.2899	0.10872	0.4925:0.0:0.5075:0.0	.	556;23	A6QL64;Q5JPF3-3	AN36A_HUMAN;.	S	556	ENSP00000419530:T556S;ENSP00000391950:T556S	ENSP00000391950:T556S	T	+	1	0	ANKRD36	97209328	0.000000	0.05858	0.006000	0.13384	0.051000	0.14879	-0.250000	0.08830	-0.482000	0.06782	0.155000	0.16302	ACA	ANKRD36	-	NULL	ENSG00000135976		0.323	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0	184	0	A			97845601	1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	missense	9.62	263	28	SNP	0.008	T	T	97845601	A	T	97845601	3	4	181	1	0	0	0	0	1	0	0	0	665	391	14	5	1760	5	ANKRD36	2	97845601	Missense_Mutation	SNP	A	TCGA-Z6-A8JD-01A-11D-A36J-09	27467990	97845601	145353772	36	44936											
CYTIP	9595	genome.wustl.edu	37	chr2	158300421	158300421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttgaatccttctattatCgtccatcgtaaggctgccgg	8	14	8	11	3	1	1	0	1	1	0	5	1	3	1	3	2	1	2	3	2	4	5	rs370374268		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:158300421C>T	ENST00000264192.3	-	1	233	c.112G>A	c.(112-114)Gat>Aat	p.D38N	CYTIP_ENST00000497432.1_Intron|CYTIP_ENST00000540637.1_Intron|AC019201.1_ENST00000401235.1_RNA	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	38					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTTCTATTATCGTCCATCGTA	0.507																																																	0								C	ASN/ASP	0,4406		0,0,2203	180	155	164		112	4.7	1	2		164	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYTIP	NM_004288.4	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	38/360	158300421	1,13005	2203	4300	6503	SO:0001583	missense	0			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.112G>A	2.37:g.158300421C>T	ENSP00000264192:p.Asp38Asn		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D38N	ENST00000264192.3	37	c.112	CCDS2204.1	2	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710478	0.48517	0.0	1.16E-4	ENSG00000115165	ENST00000264192;ENST00000439355;ENST00000435117	T;T;T	0.74526	2.0;0.78;-0.85	5.72	4.74	0.60224	.	0.079926	0.46758	D	0.000279	T	0.57286	0.2043	L	0.32530	0.975	0.80722	D	1	B	0.29805	0.257	B	0.17433	0.018	T	0.56505	-0.7968	10	0.37606	T	0.19	-19.6806	6.5918	0.22651	0.0:0.8539:0.0:0.1461	.	38	O60759	CYTIP_HUMAN	N	38;3;3	ENSP00000264192:D38N;ENSP00000402771:D3N;ENSP00000402155:D3N	ENSP00000264192:D38N	D	-	1	0	CYTIP	158008667	0.994000	0.37717	0.994000	0.49952	0.296000	0.27459	3.018000	0.49625	2.691000	0.91804	0.655000	0.94253	GAT	CYTIP	-	NULL	ENSG00000115165		0.507	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTIP	HGNC	protein_coding	OTTHUMT00000254926.1	-	0	77	0	C	NM_004288		158300421	-1	tier1	-	no_errors	ENST00000264192	ensembl	human	known	74_37	missense	11.71	96	13	SNP	1.000	T	T	158300421	C	T	158300421	3	4	181	1	0	0	0	0	1	0	0	0	4216	884	31	1	999	1	CYTIP	2	158300421	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	60454820	158300421	84898952	37	44937											
GCG	2641	genome.wustl.edu	37	chr2	163003871	163003871	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagactcttacctgttcctCttggtattcatcaaccactg	8	16	5	12	0	4	1	2	0	2	1	5	1	5	1	3	1	2	2	3	1	4	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:163003871C>G	ENST00000418842.2	-	3	500	c.246G>C	c.(244-246)aaG>aaC	p.K82N	GCG_ENST00000375497.3_Missense_Mutation_p.K82N	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	82				K -> N (in Ref. 2; CAA27627). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						ACCTGTTCCTCTTGGTATTCA	0.418																																																	0													182	177	179					2																	163003871		1923	4137	6060	SO:0001583	missense	0				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"Endogenous ligands"	4191	protein-coding gene	gene with protein product	"glicentin-related polypeptide", "glucagon-like peptide 1", "glucagon-like peptide 2", "preproglucagon"	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.246G>C	2.37:g.163003871C>G	ENSP00000387662:p.Lys82Asn		A6NN65|Q53TP6	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.K82N	ENST00000418842.2	37	c.246	CCDS46439.1	2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878728	0.51801	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.62364	0.03;0.03	5.5	4.56	0.56223	.	0.193856	0.53938	D	0.000045	T	0.62829	0.2460	M	0.88105	2.93	0.58432	D	0.999998	B	0.28291	0.206	B	0.27170	0.077	T	0.69774	-0.5054	10	0.87932	D	0	-0.0926	4.5685	0.12198	0.0:0.7335:0.0:0.2665	.	82	P01275	GLUC_HUMAN	N	82	ENSP00000387662:K82N;ENSP00000364647:K82N	ENSP00000364647:K82N	K	-	3	2	GCG	162712117	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.930000	0.40124	2.854000	0.98071	0.655000	0.94253	AAG	GCG	-	NULL	ENSG00000115263		0.418	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	-	0	65	0	C	NM_002054		163003871	-1	tier1	-	no_errors	ENST00000375497	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	G	G	163003871	C	G	163003871	3	3	181	1	0	0	0	0	1	0	0	0	6315	912	32	5	312	5	GCG	2	163003871	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	4703450	163003871	80195502	38	44938											
ZAK	51776	genome.wustl.edu	37	chr2	174131459	174131459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagccagaggggaccaccGtggatggagaaacttttgat	12	7	15	7	1	0	4	0	1	0	3	0	8	0	6	3	4	2	0	3	4	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:174131459G>A	ENST00000375213.3	+	20	2462	c.2384G>A	c.(2383-2385)cGt>cAt	p.R795H	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R795H|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		795					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)										GGGGACCACCGTGGATGGAGA	0.413																																																	0													18	21	20					2																	174131459		1845	4083	5928	SO:0001583	missense	0																														ENST00000375213.3:c.2384G>A	2.37:g.174131459G>A	ENSP00000364361:p.Arg795His		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R795H	ENST00000375213.3	37	c.2384	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346602	0.61073	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	D;D	0.81659	-1.52;-1.52	6.08	4.26	0.50523	.	0.155161	0.64402	D	0.000015	T	0.70193	0.3196	L	0.32530	0.975	0.80722	D	1	B	0.17465	0.022	B	0.10450	0.005	T	0.65813	-0.6077	10	0.87932	D	0	.	8.9345	0.35691	0.1327:0.1244:0.7429:0.0	.	795	Q9NYL2	MLTK_HUMAN	H	795	ENSP00000387259:R795H;ENSP00000364361:R795H	ENSP00000364361:R795H	R	+	2	0	AC013461.1	173839705	1.000000	0.71417	0.048000	0.18961	0.536000	0.34869	4.092000	0.57707	0.875000	0.35847	0.591000	0.81541	CGT	MLTK	-	NULL	ENSG00000091436		0.413	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_gn	protein_coding	OTTHUMT00000255401.1	-	0	32	0	G			174131459	1	tier1	-	no_errors	ENST00000375213	ensembl	human	known	74_37	missense	16.36	46	9	SNP	0.928	A	A	174131459	G	A	174131459	3	1	181	1	0	0	0	0	1	0	0	0	17561	1145	40	1	2843	1	ZAK	2	174131459	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	11127588	174131459	69067914	39	44939											
AGPS	8540	genome.wustl.edu	37	chr2	178305725	178305725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtagttaagattgtgaatCtagcttgcaaatataatctt	14	16	7	4	0	2	2	0	1	2	1	2	2	2	2	0	0	2	4	0	0	7	8			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:178305725C>G	ENST00000264167.4	+	6	816	c.670C>G	c.(670-672)Cta>Gta	p.L224V	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	224	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				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)			GATTGTGAATCTAGCTTGCAA	0.269																																																	0													155	156	156					2																	178305725		2203	4296	6499	SO:0001583	missense	0			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.670C>G	2.37:g.178305725C>G	ENSP00000264167:p.Leu224Val		A5D8U9|Q2TU35	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.L224V	ENST00000264167.4	37	c.670	CCDS2275.1	2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877414	0.51801	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.96365	-3.99	5.59	2.37	0.29283	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.94879	0.8345	M	0.64997	1.995	0.80722	D	1	P	0.42123	0.771	B	0.44224	0.444	D	0.92862	0.6306	10	0.46703	T	0.11	.	11.071	0.48004	0.0:0.6999:0.0:0.3001	.	224	O00116	ADAS_HUMAN	V	224;94	ENSP00000264167:L224V	ENSP00000264167:L224V	L	+	1	2	AGPS	178013971	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.781000	0.26774	0.740000	0.32651	0.650000	0.86243	CTA	AGPS	-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	ENSG00000018510		0.269	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPS	HGNC	protein_coding	OTTHUMT00000255730.2	-	0	72	0	C			178305725	1	tier1	-	no_errors	ENST00000264167	ensembl	human	known	74_37	missense	28.72	67	27	SNP	1.000	G	G	178305725	C	G	178305725	3	3	181	1	0	0	0	0	1	0	0	0	394	912	32	5	692	5	AGPS	2	178305725	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	4174266	178305725	64893648	40	44940											
ZNF385B	151126	genome.wustl.edu	37	chr2	180634307	180634307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgcttcactcgtttgCggtgggatttgccgttggaa	5	14	13	9	3	2	0	2	0	0	0	3	2	2	2	1	3	4	4	1	3	1	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:180634307C>A	ENST00000410066.1	-	3	779	c.176G>T	c.(175-177)cGc>cTc	p.R59L		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	59	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CACTCGTTTGCGGTGGGATTT	0.577																																					Colon(155;204 2491 32774 51842)												0													86	76	79					2																	180634307		2203	4300	6503	SO:0001583	missense	0			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.176G>T	2.37:g.180634307C>A	ENSP00000386845:p.Arg59Leu		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.R59L	ENST00000410066.1	37	c.176	CCDS33339.1	2	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088417	0.36855	.	.	ENSG00000144331	ENST00000410066;ENST00000451732	T;T	0.47528	0.84;0.84	6.06	5.11	0.69529	Zinc finger, U1-type (1);	0.077905	0.52532	D	0.000071	T	0.14270	0.0345	N	0.00436	-1.5	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31998	-0.9923	10	0.07813	T	0.8	-8.922	11.5736	0.50848	0.3337:0.6663:0.0:0.0	.	59	Q569K4	Z385B_HUMAN	L	59	ENSP00000386845:R59L;ENSP00000409978:R59L	ENSP00000386845:R59L	R	-	2	0	ZNF385B	180342552	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.313000	0.51935	2.882000	0.98803	0.655000	0.94253	CGC	ZNF385B	-	smart_Znf_U1	ENSG00000144331		0.577	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385B	HGNC	protein_coding	OTTHUMT00000335972.1		0	43	0	C	NM_152520		180634307	-1			no_errors	ENST00000410066	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	180634307	C	A	180634307	3	1	181	1	0	0	0	0	1	0	0	0	17925	768	27	2	1300	2	ZNF385B	2	180634307	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2328582	180634307	62565066	41	44941											
DNAH7	56171	genome.wustl.edu	37	chr2	196671473	196671473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccacatttaccttgtctggCctcaagcaacgaataataag	13	10	6	12	1	2	0	1	0	1	0	2	1	2	0	3	1	3	1	3	1	6	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:196671473C>T	ENST00000312428.6	-	54	10267	c.10167G>A	c.(10165-10167)agG>agA	p.R3389R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3389					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)	p.R3389R(1)		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						CCTTGTCTGGCCTCAAGCAAC	0.408																																																	1	Substitution - coding silent(1)	lung(1)											128	116	120					2																	196671473		1890	4122	6012	SO:0001819	synonymous_variant	0			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.10167G>A	2.37:g.196671473C>T			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R3389	ENST00000312428.6	37	c.10167	CCDS42794.1	2																																																																																			DNAH7	-	pfam_Dynein_heavy_dom	ENSG00000118997		0.408	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	72	0	C	NM_018897		196671473	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T	T	196671473	C	T	196671473	2	4	181	1	0	0	0	0	0	0	0	1	4620	738	26	3		3	DNAH7	2	196671473	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	16037166	196671473	46527900	42	44942											
CHPF	79586	genome.wustl.edu	37	chr2	220404580	220404580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtcaggcgtgagcaccGtgtctggcccggccagcagg	7	5	17	12	3	2	1	1	1	1	0	2	2	2	2	3	5	2	2	3	5	1	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:220404580G>T	ENST00000243776.6	-	4	2101	c.1853C>A	c.(1852-1854)aCg>aAg	p.T618K	CHPF_ENST00000535926.1_Missense_Mutation_p.T456K	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	618					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)|mitochondrion (GO:0005739)	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(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGTGAGCACCGTGTCTGGCCC	0.617																																																	0													83	88	86					2																	220404580		2201	4299	6500	SO:0001583	missense	0			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1853C>A	2.37:g.220404580G>T	ENSP00000243776:p.Thr618Lys		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.T618K	ENST00000243776.6	37	c.1853	CCDS2443.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041970	0.75732	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.16324	2.35;2.35	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.74258	2.255	0.53688	D	0.999977	D	0.64830	0.994	D	0.71414	0.973	T	0.18085	-1.0348	10	0.54805	T	0.06	-18.3329	13.7391	0.62836	0.0:0.1541:0.8459:0.0	.	618	Q8IZ52	CHSS2_HUMAN	K	618;456	ENSP00000243776:T618K;ENSP00000445571:T456K	ENSP00000243776:T618K	T	-	2	0	CHPF	220112824	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	7.681000	0.84073	2.563000	0.86464	0.561000	0.74099	ACG	CHPF	-	pfam_Chond_GalNAc	ENSG00000123989		0.617	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF	HGNC	protein_coding	OTTHUMT00000130268.1		0	57	0	G	NM_024536		220404580	-1			no_errors	ENST00000243776	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.998	T	T	220404580	G	T	220404580	3	4	181	1	0	0	0	0	1	0	0	0	3375	1145	40	2	478	2	CHPF	2	220404580	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	23733107	220404580	22794793	43	44943											
BRPF1	7862	genome.wustl.edu	37	chr3	9781322	9781322	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagctttccatgtgacatgCgcccagcaggctggccttta	8	10	10	13	1	0	1	0	1	0	0	1	1	1	1	3	2	3	3	3	2	1	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:9781322C>T	ENST00000457855.1	+	2	1250	c.1239C>T	c.(1237-1239)tgC>tgT	p.C413C	BRPF1_ENST00000383829.2_Silent_p.C413C|BRPF1_ENST00000302054.3_Silent_p.C413C|BRPF1_ENST00000424362.1_Silent_p.C413C|BRPF1_ENST00000433861.2_Silent_p.C413C			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	413					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)					ATGTGACATGCGCCCAGCAGG	0.582																																																	0													50	50	50					3																	9781322		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1239C>T	3.37:g.9781322C>T			B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.C413	ENST00000457855.1	37	c.1239	CCDS2575.1	3																																																																																			BRPF1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000156983		0.582	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1		0	39	0	C	NM_001003694		9781322	1			no_errors	ENST00000383829	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.988	T	T	9781322	C	T	9781322	2	4	181	1	0	0	0	0	0	0	0	1	1524	776	27	1		1	BRPF1	3	9781322	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09		9781322	188241108	44	44944											
SLC6A20	54716	genome.wustl.edu	37	chr3	45837804	45837804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactcacctccgccgtacatCtggcacaggtacgggaatcg	9	7	10	15	4	2	0	1	0	1	0	4	1	3	1	3	3	2	3	3	3	3	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:45837804C>G	ENST00000358525.4	-	1	223	c.108G>C	c.(106-108)caG>caC	p.Q36H	SLC6A20_ENST00000353278.4_Missense_Mutation_p.Q36H|SLC6A20_ENST00000456124.2_Missense_Mutation_p.Q36H	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	36					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CGCCGTACATCTGGCACAGGT	0.672																																																	0													45	33	37					3																	45837804		2203	4300	6503	SO:0001583	missense	0			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.108G>C	3.37:g.45837804C>G	ENSP00000346298:p.Gln36His		A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.Q36H	ENST00000358525.4	37	c.108	CCDS43077.1	3	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244940	0.59103	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	4.05	3.14	0.36123	.	0.000000	0.64402	D	0.000002	T	0.78013	0.4217	L	0.41961	1.31	0.33381	D	0.574797	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80065	-0.1538	10	0.38643	T	0.18	.	9.0117	0.36146	0.0:0.8159:0.0:0.1841	.	36;36	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	H	36	ENSP00000296133:Q36H;ENSP00000346298:Q36H;ENSP00000404310:Q36H;ENSP00000395506:Q36H	ENSP00000296133:Q36H	Q	-	3	2	SLC6A20	45812808	0.979000	0.34478	1.000000	0.80357	0.886000	0.51366	0.227000	0.17795	1.970000	0.57323	0.313000	0.20887	CAG	SLC6A20	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000163817		0.672	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	HGNC	protein_coding	OTTHUMT00000257318.3	-	0	58	0	C	NM_020208		45837804	-1	tier1	-	no_errors	ENST00000358525	ensembl	human	known	74_37	missense	14.04	49	8	SNP	1.000	G	G	45837804	C	G	45837804	3	3	181	1	0	0	0	0	1	0	0	0	14729	912	32	5	1714	5	SLC6A20	3	45837804	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	36056482	45837804	152184626	45	44945											
XCR1	2829	genome.wustl.edu	37	chr3	46062775	46062775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaagatgagcttgaccgtgCggtggcgccgcttggagcgt	6	8	17	10	6	0	3	0	2	0	1	0	5	0	4	2	3	3	2	2	3	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:46062775C>T	ENST00000309285.3	-	2	1021	c.665G>A	c.(664-666)cGc>cAc	p.R222H	XCR1_ENST00000542109.1_Missense_Mutation_p.R222H	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	222					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.R222H(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTTGACCGTGCGGTGGCGCCG	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											68	61	64					3																	46062775		2203	4300	6503	SO:0001583	missense	0				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.665G>A	3.37:g.46062775C>T	ENSP00000310405:p.Arg222His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.R222H	ENST00000309285.3	37	c.665	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905715	0.72868	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.43688	0.94;0.94	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.191393	0.39544	N	0.001325	T	0.65739	0.2720	M	0.80746	2.51	0.37263	D	0.907054	D	0.89917	1.0	D	0.85130	0.997	T	0.73366	-0.4005	10	0.87932	D	0	.	13.1218	0.59331	0.0:0.927:0.0:0.0729	.	222	P46094	XCR1_HUMAN	H	222	ENSP00000310405:R222H;ENSP00000438119:R222H	ENSP00000310405:R222H	R	-	2	0	XCR1	46037779	1.000000	0.71417	0.956000	0.39512	0.677000	0.39632	2.051000	0.41307	2.696000	0.92011	0.650000	0.86243	CGC	XCR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1	ENSG00000173578		0.587	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2		0	36	0	C			46062775	-1			no_errors	ENST00000309285	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	46062775	C	T	46062775	3	4	181	1	0	0	0	0	1	0	0	0	17474	768	27	1	340	1	XCR1	3	46062775	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	224971	46062775	151959655	46	44946											
FBXW12	285231	genome.wustl.edu	37	chr3	48423318	48423318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagcatcactggcttcCtgctgcaacgatttgaggac	8	12	9	12	1	3	1	2	1	1	0	4	3	4	2	1	2	4	4	1	2	1	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:48423318C>G	ENST00000296438.5	+	9	1300	c.1114C>G	c.(1114-1116)Ctg>Gtg	p.L372V	FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000445170.1_Missense_Mutation_p.L353V|FBXW12_ENST00000415155.1_Missense_Mutation_p.L302V|FBXW12_ENST00000436231.1_Missense_Mutation_p.L215V|RN7SL321P_ENST00000581742.1_RNA	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	372										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACTGGCTTCCTGCTGCAACG	0.468																																																	0													144	124	131					3																	48423318		2203	4300	6503	SO:0001583	missense	0			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.1114C>G	3.37:g.48423318C>G	ENSP00000296438:p.Leu372Val		E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.L372V	ENST00000296438.5	37	c.1114	CCDS2764.1	3	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913529	0.17907	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.64438	1.54;-0.1;1.54;3.45	4.48	2.57	0.30868	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.892818	0.09539	N	0.788576	T	0.63295	0.2499	L	0.43152	1.355	0.09310	N	1	D;D;P;P	0.54964	0.969;0.969;0.948;0.948	P;P;P;P	0.57468	0.821;0.821;0.666;0.666	T	0.49011	-0.8983	10	0.20519	T	0.43	2.611	6.3449	0.21343	0.1805:0.7193:0.0:0.1002	.	271;353;302;372	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	V	271;372;215;353;302	ENSP00000296438:L372V;ENSP00000413866:L215V;ENSP00000406139:L353V;ENSP00000414683:L302V	ENSP00000296438:L372V	L	+	1	2	FBXW12	48398322	0.000000	0.05858	0.002000	0.10522	0.128000	0.20619	0.087000	0.14958	0.527000	0.28560	0.650000	0.86243	CTG	FBXW12	-	superfamily_Quino_amine_DH_bsu	ENSG00000164049		0.468	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXW12	HGNC	protein_coding	OTTHUMT00000257505.1	-	0	91	0	C	NM_207102		48423318	1	tier1	-	no_errors	ENST00000296438	ensembl	human	known	74_37	missense	12.94	74	11	SNP	0.002	G	G	48423318	C	G	48423318	3	3	181	1	0	0	0	0	1	0	0	0	5787	680	24	5	1181	5	FBXW12	3	48423318	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2360543	48423318	149599112	47	44947											
PLXNB1	5364	genome.wustl.edu	37	chr3	48455320	48455320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaccgtgaactcaggcaaaGagtcaggtgcctctcggagg	10	7	14	10	2	3	3	2	2	1	1	4	4	3	4	2	4	2	1	2	4	2	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:48455320G>C	ENST00000358536.4	-	22	4639	c.4370C>G	c.(4369-4371)tCt>tGt	p.S1457C	PLXNB1_ENST00000456774.1_Missense_Mutation_p.S1274C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S1457C|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000358459.4_Missense_Mutation_p.S1274C|PLXNB1_ENST00000448774.2_Missense_Mutation_p.S68C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1457					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)		CTCAGGCAAAGAGTCAGGTGC	0.657																																																	0													41	44	43					3																	48455320		2203	4300	6503	SO:0001583	missense	0			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.4370C>G	3.37:g.48455320G>C	ENSP00000351338:p.Ser1457Cys		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.S1457C	ENST00000358536.4	37	c.4370	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	G	8.799	0.932361	0.18131	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.12361	3.93;3.94;3.93;2.69;3.94	5.43	3.61	0.41365	.	0.794813	0.11301	N	0.578232	T	0.21962	0.0529	L	0.46157	1.445	0.09310	N	1	P;P	0.39094	0.523;0.659	B;P	0.51415	0.285;0.669	T	0.19943	-1.0290	10	0.59425	D	0.04	.	6.1863	0.20500	0.168:0.0:0.6797:0.1523	.	1457;1274	O43157;O43157-2	PLXB1_HUMAN;.	C	1457;1274;1457;68;1274	ENSP00000296440:S1457C;ENSP00000351242:S1274C;ENSP00000351338:S1457C;ENSP00000389320:S68C;ENSP00000414199:S1274C	ENSP00000296440:S1457C	S	-	2	0	PLXNB1	48430324	0.498000	0.26075	0.001000	0.08648	0.387000	0.30353	3.721000	0.54941	0.630000	0.30394	-0.251000	0.11542	TCT	PLXNB1	-	NULL	ENSG00000164050		0.657	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1		0	67	0	G	NM_002673		48455320	-1			no_errors	ENST00000296440	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.000	C	C	48455320	G	C	48455320	3	2	181	1	0	0	0	0	1	0	0	0	12162	942	33	5	2105	5	PLXNB1	3	48455320	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	32002	48455320	149567110	48	44948											
WDR6	11180	genome.wustl.edu	37	chr3	49044854	49044854	+	5'UTR	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgtggctgcctcagcacctCgaggatcgacatggacgctc	7	7	12	15	4	1	0	1	0	0	0	4	4	1	2	3	3	2	3	3	3	0	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:49044854C>G	ENST00000608424.1	+	0	29				WDR6_ENST00000415265.2_5'UTR|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000395474.3_Missense_Mutation_p.S27W			Q9NNW5	WDR6_HUMAN	WD repeat domain 6						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)		CTCAGCACCTCGAGGATCGAC	0.647																																																	0													38	32	34					3																	49044854		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			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.-11C>G	3.37:g.49044854C>G			B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S27W	ENST00000608424.1	37	c.80		3	.	.	.	.	.	.	.	.	.	.	C	8.882	0.951813	0.18431	.	.	ENSG00000178252	ENST00000395474	T	0.70631	-0.5	4.06	-8.11	0.01082	.	.	.	.	.	T	0.54287	0.1849	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.49062	-0.8978	6	0.44086	T	0.13	.	3.1905	0.06615	0.1823:0.1463:0.4477:0.2237	.	.	.	.	W	27	ENSP00000378857:S27W	ENSP00000378857:S27W	S	+	2	0	WDR6	49019858	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.815000	0.00182	-3.607000	0.00133	-0.834000	0.03071	TCG	WDR6	-	NULL	ENSG00000178252		0.647	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	-	0	67	0	C			49044854	1	tier1	-	no_errors	ENST00000395474	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.000	G	G	49044854	C	G	49044854	1	3	181	0	1	0	0	0	0	0	0	0	17359	893	31	5		5	WDR6	3	49044854	5'UTR	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	589534	49044854	148977576	49	44949											
DOCK3	1795	genome.wustl.edu	37	chr3	51413181	51413181	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatctccttccttcagccGccgaatttccagcgagccct	6	13	6	16	3	2	0	1	0	1	0	5	2	4	0	6	0	3	0	6	0	2	5	rs150544910		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:51413181G>A	ENST00000266037.9	+	51	5438	c.5415G>A	c.(5413-5415)ccG>ccA	p.P1805P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1805					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)		TCCTTCAGCCGCCGAATTTCC	0.502													G|||	1	0.000199681	0	0	5008	,	,		21787	0.001		0	False		,,,				2504	0																0								G		1,4177		0,1,2088	106	116	112		5415	1.2	1	3	dbSNP_134	112	0,8418		0,0,4209	no	coding-synonymous	DOCK3	NM_004947.4		0,1,6297	AA,AG,GG		0.0,0.0239,0.0079		1805/2031	51413181	1,12595	2089	4209	6298	SO:0001819	synonymous_variant	0			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.5415G>A	3.37:g.51413181G>A			O15017	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.P1805	ENST00000266037.9	37	c.5415	CCDS46835.1	3																																																																																			DOCK3	-	NULL	ENSG00000088538		0.502	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5		0	86	0	G	NM_004947		51413181	1			no_errors	ENST00000266037	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.996	A	A	51413181	G	A	51413181	2	1	181	1	0	0	0	0	0	0	0	1	4702	1074	38	1		1	DOCK3	3	51413181	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	2368327	51413181	146609249	50	44950											
PBRM1	55193	genome.wustl.edu	37	chr3	52597511	52597511	+	Splice_Site	SNP	T	T	C	0	1	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	ctgaggaacaattggttttcTgaaaaaagtgacataaaaaa	19	10	8	4	0	1	3	0	3	1	0	1	4	1	4	0	2	1	1	0	2	8	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:52597511T>C	ENST00000296302.7	-	24	3877		c.e24-2		PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000409767.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						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.?(3)		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)		ATTGGTTTTCTGAAAAAAGTG	0.413			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Unknown(3)	kidney(3)											75	71	72					3																	52597511		2203	4300	6503	SO:0001630	splice_region_variant	0			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.3876-2A>G	3.37:g.52597511T>C			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	-	e24-2	ENST00000296302.7	37	c.3876-2		3	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742400	0.69418	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5126	0.67797	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52572551	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	7.993000	0.88291	2.216000	0.71823	0.459000	0.35465	.	PBRM1	-	-	ENSG00000163939		0.413	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1		0	33	0	T	NM_018165	Intron	52597511	-1			no_errors	ENST00000296302	ensembl	human	known	74_37	splice_site	5.88	32	2	SNP	1.000	C	C	52597511	T	C	52597511	5	2	181	1	0	0	0	0	0	0	1	0	11530	1594	55	4	1054	4	PBRM1	3	52597511	Splice_Site	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	1184330	52597511	145424919	51	44951											
ACOX2	8309	genome.wustl.edu	37	chr3	58520773	58520773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacctctcgctctctatgtCggggtgcatttgcctgctcc	4	14	9	14	2	2	0	0	0	2	0	6	0	3	0	3	2	4	3	3	2	2	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:58520773C>T	ENST00000302819.5	-	2	352	c.61G>A	c.(61-63)Gac>Aac	p.D21N	ACOX2_ENST00000459701.2_Missense_Mutation_p.D21N	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	21					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCTCTATGTCGGGGTGCATT	0.552																																																	0													289	254	266					3																	58520773		2203	4300	6503	SO:0001583	missense	0			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.61G>A	3.37:g.58520773C>T	ENSP00000307697:p.Asp21Asn		A6NF16|B2R8U5	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.D21N	ENST00000302819.5	37	c.61	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721916	0.68959	.	.	ENSG00000168306	ENST00000459701;ENST00000302819;ENST00000474098	T;T;T	0.63417	-0.04;-0.04;-0.04	4.54	4.54	0.55810	Acyl-CoA dehydrogenase/oxidase (1);	0.156450	0.43110	D	0.000618	T	0.80929	0.4718	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.84729	0.0744	10	0.87932	D	0	-7.4745	15.6427	0.77020	0.0:1.0:0.0:0.0	.	21	Q99424	ACOX2_HUMAN	N	21	ENSP00000418562:D21N;ENSP00000307697:D21N;ENSP00000419927:D21N	ENSP00000307697:D21N	D	-	1	0	ACOX2	58495813	0.989000	0.36119	0.984000	0.44739	0.086000	0.17979	2.922000	0.48860	2.526000	0.85167	0.563000	0.77884	GAC	ACOX2	-	superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	ENSG00000168306		0.552	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	-	0	110	0	C			58520773	-1	tier1	-	no_errors	ENST00000302819	ensembl	human	known	74_37	missense	23.68	58	18	SNP	0.997	T	T	58520773	C	T	58520773	3	4	181	1	0	0	0	0	1	0	0	0	159	884	31	1	2040	1	ACOX2	3	58520773	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	5923262	58520773	139501657	52	44952											
MAGI1	9223	genome.wustl.edu	37	chr3	65342522	65342522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcgcgctcggcctgcGcgtccctccgtccctccggc	0	7	12	22	8	0	0	0	0	0	0	5	0	4	0	6	2	2	1	6	2	0	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:65342522G>T	ENST00000402939.2	-	23	3919	c.3920C>A	c.(3919-3921)gCg>gAg	p.A1307E	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	1336					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)		CTCGGCCTGCGCGTCCCTCCG	0.692																																																	0													48	50	49					3																	65342522		2202	4299	6501	SO:0001583	missense	0			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.3920C>A	3.37:g.65342522G>T	ENSP00000385450:p.Ala1307Glu		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.A1307E	ENST00000402939.2	37	c.3920	CCDS33780.1	3	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.797621	0.00617	.	.	ENSG00000151276	ENST00000402939	T	0.11495	2.77	5.04	5.04	0.67666	.	0.509796	0.18895	N	0.128208	T	0.06781	0.0173	N	0.19112	0.55	0.24200	N	0.995519	B	0.26195	0.144	B	0.26094	0.066	T	0.30446	-0.9978	10	0.02654	T	1	-7.7945	13.1852	0.59677	0.0:0.2979:0.7021:0.0	.	1307	Q96QZ7-2	.	E	1307	ENSP00000385450:A1307E	ENSP00000385450:A1307E	A	-	2	0	MAGI1	65317562	0.843000	0.29541	0.020000	0.16555	0.032000	0.12392	3.892000	0.56235	2.329000	0.79093	0.655000	0.94253	GCG	MAGI1	-	NULL	ENSG00000151276		0.692	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349126.1	-	0	34	0	G	NM_004742		65342522	-1	tier1	-	no_errors	ENST00000402939	ensembl	human	known	74_37	missense	25.00	30	10	SNP	0.004	T	T	65342522	G	T	65342522	3	4	181	1	0	0	0	0	1	0	0	0	9228	1087	38	2	472	2	MAGI1	3	65342522	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	6821749	65342522	132679908	53	44953											
TMF1	7110	genome.wustl.edu	37	chr3	69088142	69088142	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgttgtttctcaacctCttctttgccatcaaggacct	7	17	5	12	0	5	0	2	0	4	0	6	1	5	1	3	1	2	2	3	1	3	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:69088142C>A	ENST00000398559.2	-	7	2062	c.1846G>T	c.(1846-1848)Gag>Tag	p.E616*	TMF1_ENST00000543976.1_Nonsense_Mutation_p.E619*|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	616					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)		TTCTCAACCTCTTCTTTGCCA	0.323																																																	0													112	99	103					3																	69088142		1813	4065	5878	SO:0001587	stop_gained	0				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.1846G>T	3.37:g.69088142C>A	ENSP00000381567:p.Glu616*		B7ZLJ2|Q17R87|Q59GK0	Nonsense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.E619*	ENST00000398559.2	37	c.1855	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	C	41	8.744189	0.98937	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	.	.	.	5.4	5.4	0.78164	.	0.092274	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-7.8685	19.1732	0.93588	0.0:1.0:0.0:0.0	.	.	.	.	X	616;619;532	.	ENSP00000348582:E532X	E	-	1	0	TMF1	69170832	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.670000	0.83925	2.527000	0.85204	0.573000	0.79308	GAG	TMF1	-	NULL	ENSG00000144747		0.323	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	-	0	40	0	C	NM_007114		69088142	-1	tier1	-	no_errors	ENST00000543976	ensembl	human	known	74_37	nonsense	29.27	29	12	SNP	1.000	A	A	69088142	C	A	69088142	4	1	181	1	0	0	0	0	0	1	0	0	16275	922	32	3	1479	3	TMF1	3	69088142	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	3745620	69088142	128934288	54	44954											
CEP97	79598	genome.wustl.edu	37	chr3	101474436	101474436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagattttgagcaaacaGaggtaagcccatttatttct	14	12	9	6	0	1	4	0	1	1	3	1	5	1	4	1	1	3	2	1	1	4	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:101474436G>T	ENST00000341893.3	+	7	1643	c.891G>T	c.(889-891)caG>caT	p.Q297H	CEP97_ENST00000494050.1_Missense_Mutation_p.Q297H|CEP97_ENST00000327230.4_Missense_Mutation_p.Q297H			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	297					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						TGAGCAAACAGAGGTAAGCCC	0.443																																																	0													109	103	105					3																	101474436		2203	4300	6503	SO:0001583	missense	0			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.891G>T	3.37:g.101474436G>T	ENSP00000342510:p.Gln297His		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.Q297H	ENST00000341893.3	37	c.891	CCDS2944.1	3	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483064	0.44147	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.56103	0.48;0.49;0.54	6.03	5.15	0.70609	.	0.053250	0.85682	D	0.000000	T	0.61751	0.2372	L	0.51422	1.61	0.45676	D	0.998595	D;P;P	0.76494	0.999;0.749;0.633	P;B;B	0.62014	0.897;0.341;0.184	T	0.60141	-0.7321	10	0.49607	T	0.09	-6.5624	11.1712	0.48573	0.1494:0.0:0.8506:0.0	.	297;297;297	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	H	297	ENSP00000342510:Q297H;ENSP00000325881:Q297H;ENSP00000418185:Q297H	ENSP00000325881:Q297H	Q	+	3	2	CEP97	102957126	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	3.391000	0.52530	2.868000	0.98415	0.557000	0.71058	CAG	CEP97	-	NULL	ENSG00000182504		0.443	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	-	0	48	0	G	NM_024548		101474436	1	tier1	-	no_errors	ENST00000327230	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	101474436	G	T	101474436	3	4	181	1	0	0	0	0	1	0	0	0	3270	933	33	3	917	3	CEP97	3	101474436	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	32386294	101474436	96547994	55	44955											
CHST13	166012	genome.wustl.edu	37	chr3	126260800	126260800	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagcccgcggcgacccGcgcgccatctccgcgcaaga	7	2	13	19	8	1	1	0	0	1	1	2	2	1	1	5	2	1	1	5	2	2	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:126260800G>A	ENST00000319340.2	+	3	455	c.405G>A	c.(403-405)ccG>ccA	p.P135P		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	135					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)		GCGGCGACCCGCGCGCCATCT	0.721																																																	0													13	12	13					3																	126260800		2172	4228	6400	SO:0001819	synonymous_variant	0			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.405G>A	3.37:g.126260800G>A			Q3SYA3|Q3SYA5	Silent	SNP	pfam_Sulfotransferase	p.P135	ENST00000319340.2	37	c.405	CCDS3039.1	3																																																																																			CHST13	-	pfam_Sulfotransferase	ENSG00000180767		0.721	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST13	HGNC	protein_coding	OTTHUMT00000370201.2		0	38	0	G	NM_152889		126260800	1			no_errors	ENST00000319340	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.240	A	A	126260800	G	A	126260800	2	1	181	1	0	0	0	0	0	0	0	1	3408	1074	38	1		1	CHST13	3	126260800	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	24786364	126260800	71761630	56	44956											
C3orf37	56941	genome.wustl.edu	37	chr3	129009630	129009630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catacttcatctattttcctCaaatcaagacagagaaggta	15	12	5	9	0	4	2	3	0	1	2	5	3	5	2	1	1	1	1	1	1	6	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:129009630C>G	ENST00000383463.4	+	4	525	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E	HMCES_ENST00000417226.2_Intron|HMCES_ENST00000502878.2_Missense_Mutation_p.Q146E|HMCES_ENST00000389735.3_Missense_Mutation_p.Q146E	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	146							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										CTATTTTCCTCAAATCAAGAC	0.408																																																	0													118	110	113					3																	129009630		2203	4300	6503	SO:0001583	missense	0			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"SOS response associated peptidase domain containing 1"		"chromosome 3 open reading frame 37"	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.436C>G	3.37:g.129009630C>G	ENSP00000372955:p.Gln146Glu		A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	pfam_DUF159,superfamily_DUF159	p.Q146E	ENST00000383463.4	37	c.436	CCDS33852.1	3	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691040	0.68271	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000502878;ENST00000389735;ENST00000509551	.	.	.	5.26	5.26	0.73747	.	0.055509	0.64402	D	0.000001	T	0.67154	0.2863	L	0.58669	1.825	0.80722	D	1	D	0.57571	0.98	P	0.54270	0.747	T	0.70586	-0.4831	9	0.66056	D	0.02	-21.193	16.3362	0.83062	0.0:1.0:0.0:0.0	.	146	Q96FZ2	CC037_HUMAN	E	98;146;146;146;146	.	ENSP00000372955:Q146E	Q	+	1	0	C3orf37	130492320	1.000000	0.71417	0.950000	0.38849	0.730000	0.41778	4.723000	0.61965	2.439000	0.82584	0.585000	0.79938	CAA	HMCES	-	pfam_DUF159,superfamily_DUF159	ENSG00000183624		0.408	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCES	HGNC	protein_coding	OTTHUMT00000355470.2	-	0	133	0	C	NM_020187		129009630	1	tier1	-	no_errors	ENST00000383463	ensembl	human	known	74_37	missense	27.27	104	39	SNP	1.000	G	G	129009630	C	G	129009630	3	3	181	1	0	0	0	0	1	0	0	0	2234	827	29	5	446	5	C3orf37	3	129009630	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2748830	129009630	69012800	57	44957											
NEK11	79858	genome.wustl.edu	37	chr3	130889714	130889714	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattgtagaggatgccacatCtgaccttggataccatggta	12	11	10	8	0	1	2	0	1	1	1	1	4	1	4	3	3	2	2	3	3	4	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:130889714C>G	ENST00000510769.1	+	10	1320	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	NEK11_ENST00000356918.4_Missense_Mutation_p.S461C|NEK11_ENST00000429253.2_Missense_Mutation_p.S461C|NEK11_ENST00000508196.1_Missense_Mutation_p.S461C|NEK11_ENST00000383366.4_Missense_Mutation_p.S461C|NEK11_ENST00000507910.1_Missense_Mutation_p.S461C|NEK11_ENST00000510688.1_Missense_Mutation_p.S461C|NEK11_ENST00000511262.1_Missense_Mutation_p.S461C|NEK11_ENST00000412440.2_Missense_Mutation_p.S277C					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GATGCCACATCTGACCTTGGA	0.478																																																	0													188	165	173					3																	130889714		2203	4300	6503	SO:0001583	missense	0			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1067C>G	3.37:g.130889714C>G	ENSP00000421549:p.Ser356Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S461C	ENST00000510769.1	37	c.1382		3	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426186	0.25726	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T;T	0.72394	-0.59;-0.41;-0.58;-0.38;-0.55;-0.41;-0.65;-0.58;-0.41	5.16	0.2	0.15181	.	1.549150	0.04004	N	0.297056	T	0.58750	0.2144	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.33448	0.412;0.412;0.0;0.001;0.0;0.216	B;B;B;B;B;B	0.38194	0.267;0.267;0.001;0.003;0.001;0.181	T	0.52756	-0.8533	10	0.66056	D	0.02	.	3.4719	0.07570	0.1747:0.4539:0.0:0.3714	.	461;356;277;461;461;461	Q8NG66-3;E9PHI8;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;.;NEK11_HUMAN;.	C	356;461;461;461;461;461;277;461;461	ENSP00000421549:S356C;ENSP00000397180:S461C;ENSP00000349389:S461C;ENSP00000423458:S461C;ENSP00000425114:S461C;ENSP00000372857:S461C;ENSP00000411888:S277C;ENSP00000426662:S461C;ENSP00000421851:S461C	ENSP00000349389:S461C	S	+	2	0	NEK11	132372404	0.305000	0.24481	0.006000	0.13384	0.173000	0.22820	0.651000	0.24873	0.102000	0.17638	0.561000	0.74099	TCT	NEK11	-	NULL	ENSG00000114670		0.478	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NEK11	HGNC	protein_coding	OTTHUMT00000356757.1	-	0	117	0	C	NM_024800		130889714	1	tier1	-	no_errors	ENST00000383366	ensembl	human	known	74_37	missense	10.28	95	11	SNP	0.002	G	G	130889714	C	G	130889714	3	3	181	1	0	0	0	0	1	0	0	0	10362	913	32	5	1428	5	NEK11	3	130889714	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	1880084	130889714	67132716	58	44958											
ARMC8	25852	genome.wustl.edu	37	chr3	137928707	137928707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgacaggctatttgaccctGatccccagaaagttctacaa	12	11	7	11	0	1	4	0	3	1	1	2	4	2	4	3	1	1	2	3	1	4	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:137928707G>C	ENST00000469044.1	+	2	365	c.94G>C	c.(94-96)Gat>Cat	p.D32H	ARMC8_ENST00000491704.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.D32H|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000489213.1_Intron|ARMC8_ENST00000481646.1_Missense_Mutation_p.D18H|ARMC8_ENST00000393058.3_Missense_Mutation_p.D22H|ARMC8_ENST00000358441.2_Missense_Mutation_p.D18H|ARMC8_ENST00000538260.1_Missense_Mutation_p.D32H|ARMC8_ENST00000470821.1_Missense_Mutation_p.D32H|ARMC8_ENST00000471453.1_Missense_Mutation_p.D18H	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	32										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATTTGACCCTGATCCCCAGAA	0.368																																																	0													86	86	86					3																	137928707		2203	4300	6503	SO:0001583	missense	0				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.94G>C	3.37:g.137928707G>C	ENSP00000419413:p.Asp32His		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D32H	ENST00000469044.1	37	c.94		3	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709285	0.89018	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000461600;ENST00000358441;ENST00000461822;ENST00000471453;ENST00000470821;ENST00000471709;ENST00000538260;ENST00000393058;ENST00000468560	T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;0.3;0.3;0.92;0.3;0.3;0.41;0.92;-0.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.82458	0.5041	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.986;0.98;0.986;0.987	D	0.83450	0.0048	10	0.87932	D	0	-14.9952	17.534	0.87822	0.0:0.0:1.0:0.0	.	32;32;18;18	B7Z441;F5GWK4;Q8IUR7-2;Q8IUR7-6	.;.;.;.	H	18;32;32;18;32;18;32;32;32;22;18	ENSP00000420333:D18H;ENSP00000419413:D32H;ENSP00000418074:D32H;ENSP00000351221:D18H;ENSP00000420706:D32H;ENSP00000420440:D18H;ENSP00000418405:D32H;ENSP00000420719:D32H;ENSP00000441592:D32H;ENSP00000376778:D22H	ENSP00000351221:D18H	D	+	1	0	ARMC8	139411397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.924000	0.75823	2.750000	0.94351	0.563000	0.77884	GAT	ARMC8	-	superfamily_ARM-type_fold	ENSG00000114098		0.368	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	-	0	66	0	G	NM_015396		137928707	1	tier1	-	no_errors	ENST00000469044	ensembl	human	known	74_37	missense	9.09	80	8	SNP	1.000	C	C	137928707	G	C	137928707	3	2	181	1	0	0	0	0	1	0	0	0	958	1290	45	5	58	5	ARMC8	3	137928707	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	7038993	137928707	60093723	59	44959											
PLSCR1	5359	genome.wustl.edu	37	chr3	146251305	146251305	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatacccaactggcaagtTtgtttccgggtgagaagcat	11	10	12	8	1	0	1	0	1	0	1	1	3	1	2	2	3	3	4	2	3	4	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:146251305T>G	ENST00000342435.4	-	3	456	c.46A>C	c.(46-48)Aac>Cac	p.N16H	PLSCR1_ENST00000487389.1_Missense_Mutation_p.N9H|PLSCR1_ENST00000448787.2_Missense_Mutation_p.Q7H|PLSCR1_ENST00000448205.1_5'UTR	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	16	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						ACTGGCAAGTTTGTTTCCGGG	0.368																																																	0													109	112	111					3																	146251305		2203	4300	6503	SO:0001583	missense	0			AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.46A>C	3.37:g.146251305T>G	ENSP00000345494:p.Asn16His		B2R8H8|B4DTE8	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.N16H	ENST00000342435.4	37	c.46	CCDS3135.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.83|10.83	1.462318|1.462318	0.26248|0.26248	.|.	.|.	ENSG00000188313|ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000462666;ENST00000472349|ENST00000448787;ENST00000486631	T;T;T;T|T;T	0.22945|0.31769	2.26;2.25;2.25;1.93|1.91;1.48	3.37|3.37	-6.74|-6.74	0.01743|0.01743	.|.	.|.	.|.	.|.	.|.	T|T	0.13970|0.13970	0.0338|0.0338	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	B;B|B	0.11235|0.02656	0.004;0.002|0.0	B;B|B	0.08055|0.01281	0.003;0.001|0.0	T|T	0.26189|0.26189	-1.0110|-1.0110	9|8	0.14252|.	T|.	0.57|.	.|.	0.6439|0.6439	0.00815|0.00815	0.2675:0.285:0.2568:0.1907|0.2675:0.285:0.2568:0.1907	.|.	16;16|7	Q8WVK1;O15162|B4DTE8	.;PLS1_HUMAN|.	H|H	16;9;16;16|7	ENSP00000345494:N16H;ENSP00000417792:N9H;ENSP00000418103:N16H;ENSP00000420523:N16H|ENSP00000411675:Q7H;ENSP00000418550:Q7H	ENSP00000345494:N16H|.	N|Q	-|-	1|3	0|2	PLSCR1|PLSCR1	147733995|147733995	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.624000|-1.624000	0.02038|0.02038	-1.919000|-1.919000	0.01071|0.01071	-1.123000|-1.123000	0.02005|0.02005	AAC|CAA	PLSCR1	-	NULL	ENSG00000188313		0.368	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLSCR1	HGNC	protein_coding	OTTHUMT00000355257.2	-	0	63	0	T	NM_021105		146251305	-1	tier1	-	no_errors	ENST00000342435	ensembl	human	known	74_37	missense	11.49	77	10	SNP	0.000	G	G	146251305	T	G	146251305	3	3	181	1	0	0	0	0	1	0	0	0	12148	1841	64	4	938	4	PLSCR1	3	146251305	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	8322598	146251305	51771125	60	44960											
FNDC3B	64778	genome.wustl.edu	37	chr3	172115069	172115069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacctctcaggagctaagcgGagccttcagcccctctgcgg	7	7	11	16	2	3	0	2	0	2	0	4	2	3	2	4	3	5	1	4	3	1	2	rs34217265		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:172115069G>T	ENST00000336824.4	+	26	3518	c.3419G>T	c.(3418-3420)gGa>gTa	p.G1140V	FNDC3B_ENST00000415807.2_Missense_Mutation_p.G1140V|FNDC3B_ENST00000416957.1_Missense_Mutation_p.G1140V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1140	Fibronectin type-III 9. {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)		GAGCTAAGCGGAGCCTTCAGC	0.517																																																	0													93	92	92					3																	172115069		2203	4300	6503	SO:0001583	missense	0			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.3419G>T	3.37:g.172115069G>T	ENSP00000338523:p.Gly1140Val		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G1140V	ENST00000336824.4	37	c.3419	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976839	0.74360	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.39056	1.1;1.1;1.1	5.93	5.93	0.95920	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71099	0.3300	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73751	-0.3884	10	0.72032	D	0.01	-18.1586	20.3334	0.98727	0.0:0.0:1.0:0.0	.	1140	Q53EP0	FND3B_HUMAN	V	1140	ENSP00000411242:G1140V;ENSP00000338523:G1140V;ENSP00000389094:G1140V	ENSP00000338523:G1140V	G	+	2	0	FNDC3B	173597763	1.000000	0.71417	0.995000	0.50966	0.865000	0.49528	9.307000	0.96226	2.818000	0.97014	0.591000	0.81541	GGA	FNDC3B	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000075420		0.517	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	-	0	42	0	G	NM_022763		172115069	1	tier1	-	no_errors	ENST00000336824	ensembl	human	known	74_37	missense	16.33	41	8	SNP	1.000	T	T	172115069	G	T	172115069	3	4	181	1	0	0	0	0	1	0	0	0	5992	1174	41	3	3517	3	FNDC3B	3	172115069	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	25863764	172115069	25907361	61	44961											
ECE2	9718	genome.wustl.edu	37	chr3	184005730	184005730	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtttgaccggcaaagcaaaGaaattgtgagtctacaagat	15	9	10	7	2	1	4	0	2	1	2	1	4	1	4	1	1	2	3	1	1	5	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:184005730G>C	ENST00000402825.3	+	11	1723	c.1723G>C	c.(1723-1725)Gaa>Caa	p.E575Q	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.E457Q|ECE2_ENST00000359140.4_Missense_Mutation_p.E428Q|ECE2_ENST00000357474.5_Missense_Mutation_p.E503Q	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	575	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)			GCAAAGCAAAGAAATTGTGAG	0.502																																																	0													68	61	63					3																	184005730		2203	4300	6503	SO:0001583	missense	0			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.1723G>C	3.37:g.184005730G>C	ENSP00000384223:p.Glu575Gln		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.E575Q	ENST00000402825.3	37	c.1723	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104625	0.37145	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	4.75	4.75	0.60458	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.361799	0.28600	N	0.014762	T	0.58235	0.2108	L	0.34521	1.04	0.38527	D	0.948886	B;B;B;B;B;B;B	0.19583	0.003;0.009;0.037;0.004;0.03;0.004;0.009	B;B;B;B;B;B;B	0.22152	0.014;0.021;0.021;0.008;0.012;0.008;0.038	T	0.57860	-0.7738	10	0.34782	T	0.22	-3.4158	10.0644	0.42295	0.0941:0.0:0.9059:0.0	.	177;428;446;457;503;428;575	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	Q	575;428;457;503;449	ENSP00000384223:E575Q;ENSP00000352052:E428Q;ENSP00000385846:E457Q;ENSP00000350066:E503Q;ENSP00000398444:E449Q	ENSP00000350066:E503Q	E	+	1	0	ECE2	185488424	0.993000	0.37304	1.000000	0.80357	0.908000	0.53690	1.633000	0.37113	2.186000	0.69663	0.655000	0.94253	GAA	ECE2	-	pfam_Peptidase_M13_N	ENSG00000145194		0.502	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	-	0	77	0	G	NM_014693		184005730	1	tier1	-	no_errors	ENST00000402825	ensembl	human	known	74_37	missense	22.95	47	14	SNP	1.000	C	C	184005730	G	C	184005730	3	2	181	1	0	0	0	0	1	0	0	0	4904	943	33	5	2329	5	ECE2	3	184005730	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	11890661	184005730	14016700	62	44962											
LMLN	89782	genome.wustl.edu	37	chr3	197751587	197751587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccgtttgtctaattcaGaaatcagcattcgttatgga	11	15	7	8	2	3	1	2	0	1	1	5	2	4	2	1	1	1	3	1	1	3	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:197751587G>T	ENST00000330198.4	+	14	1606	c.1584G>T	c.(1582-1584)caG>caT	p.Q528H	LMLN_ENST00000482695.1_Missense_Mutation_p.Q513H|LMLN_ENST00000332636.5_Missense_Mutation_p.Q476H|LMLN_ENST00000420910.2_Missense_Mutation_p.Q565H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	528					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)		GTCTAATTCAGAAATCAGCAT	0.398																																																	0													150	142	144					3																	197751587		2203	4300	6503	SO:0001583	missense	0			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.1584G>T	3.37:g.197751587G>T	ENSP00000328829:p.Gln528His		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	pfam_Peptidase_M8	p.Q528H	ENST00000330198.4	37	c.1584	CCDS3332.1	3	.	.	.	.	.	.	.	.	.	.	G	5.368	0.253141	0.10185	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.86	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	L	0.31752	0.955	0.51233	D	0.999914	B;B;D;B;B	0.53151	0.001;0.002;0.958;0.001;0.004	B;B;P;B;B	0.58454	0.007;0.013;0.839;0.012;0.004	T	0.14172	-1.0482	10	0.11182	T	0.66	-15.6754	11.2664	0.49112	0.0902:0.0:0.9098:0.0	.	528;476;565;557;513	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	H	513;528;565;476	ENSP00000418324:Q513H;ENSP00000328829:Q528H;ENSP00000410926:Q565H;ENSP00000328611:Q476H	ENSP00000328829:Q528H	Q	+	3	2	LMLN	199235984	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.867000	0.69597	1.242000	0.43836	0.650000	0.86243	CAG	LMLN	-	pfam_Peptidase_M8	ENSG00000185621		0.398	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	-	0	72	0	G	NM_033029		197751587	1	tier1	-	no_errors	ENST00000330198	ensembl	human	known	74_37	missense	5.41	69	4	SNP	1.000	T	T	197751587	G	T	197751587	3	4	181	1	0	0	0	0	1	0	0	0	8877	933	33	3	1753	3	LMLN	3	197751587	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	13745857	197751587	270843	63	44963											
FAM193A	8603	genome.wustl.edu	37	chr4	2696769	2696769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggacagctgctctgaGcacagctccagcacctcgac	10	6	11	14	1	1	2	0	2	1	0	3	5	2	3	2	1	5	5	2	1	0	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:2696769G>A	ENST00000324666.5	+	15	2667	c.2316G>A	c.(2314-2316)gaG>gaA	p.E772E	FAM193A_ENST00000545951.1_Silent_p.E772E|FAM193A_ENST00000505311.1_Silent_p.E772E|FAM193A_ENST00000382839.3_Silent_p.E772E|FAM193A_ENST00000502458.1_Silent_p.E794E	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	772										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						GCTGCTCTGAGCACAGCTCCA	0.602																																																	0													99	70	80					4																	2696769		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2316G>A	4.37:g.2696769G>A			B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	NULL	p.E772	ENST00000324666.5	37	c.2316	CCDS58875.1	4																																																																																			FAM193A	-	NULL	ENSG00000125386		0.602	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	-	0	58	0	G	NM_003704		2696769	1	tier1	-	no_errors	ENST00000324666	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	A	A	2696769	G	A	2696769	2	1	181	1	0	0	0	0	0	0	0	1	5543	962	34	3		3	FAM193A	4	2696769	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09		2696769	188457507	64	44964											
EVC	2121	genome.wustl.edu	37	chr4	5735137	5735137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agacctgctgcatttggacaCggcactgaggcaggaaaagc	12	6	13	10	1	0	2	0	1	0	1	0	4	0	4	1	4	3	4	1	4	2	1	rs201583621		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:5735137C>T	ENST00000264956.6	+	5	861	c.677C>T	c.(676-678)aCg>aTg	p.T226M	EVC_ENST00000382674.2_Missense_Mutation_p.T226M|EVC_ENST00000509451.1_Missense_Mutation_p.T226M	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	226					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)		p.T226M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CATTTGGACACGGCACTGAGG	0.478													C|||	1	0.000199681	0	0	5008	,	,		21258	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	endometrium(1)						C	MET/THR	0,4406		0,0,2203	307	283	291		677	2.9	0	4		291	2,8598	2.2+/-6.3	0,2,4298	yes	missense	EVC	NM_153717.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	226/993	5735137	2,13004	2203	4300	6503	SO:0001583	missense	0			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.677C>T	4.37:g.5735137C>T	ENSP00000264956:p.Thr226Met			Missense_Mutation	SNP	NULL	p.T226M	ENST00000264956.6	37	c.677	CCDS3383.1	4	.	.	.	.	.	.	.	.	.	.	C	3.901	-0.021972	0.07634	0.0	2.33E-4	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.54479	0.57;0.57;0.61	4.73	2.88	0.33553	.	0.947586	0.08861	N	0.883086	T	0.37265	0.0997	N	0.19112	0.55	0.09310	N	1	B	0.25719	0.132	B	0.19148	0.024	T	0.26744	-1.0094	10	0.52906	T	0.07	.	9.2585	0.37597	0.1429:0.7772:0.0:0.0798	.	226	P57679	EVC_HUMAN	M	226	ENSP00000264956:T226M;ENSP00000372120:T226M;ENSP00000426774:T226M	ENSP00000264956:T226M	T	+	2	0	EVC	5786038	0.000000	0.05858	0.006000	0.13384	0.078000	0.17371	0.536000	0.23129	1.121000	0.41925	-0.143000	0.13931	ACG	EVC	-	NULL	ENSG00000072840		0.478	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1		0	39	0	C			5735137	1			no_errors	ENST00000264956	ensembl	human	known	74_37	missense	6.67	41	3	SNP	0.007	T	T	5735137	C	T	5735137	3	4	181	1	0	0	0	0	1	0	0	0	5301	536	19	1	695	1	EVC	4	5735137	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	3038368	5735137	185419139	65	44965											
JAKMIP1	152789	genome.wustl.edu	37	chr4	6082040	6082040	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgctgacagcttttctttCtgcagccacagggagacaga	9	10	11	11	1	2	3	0	1	2	2	2	4	2	3	1	1	4	3	1	1	0	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:6082040C>G	ENST00000282924.5	-	7	1587		c.e7-1		JAKMIP1_ENST00000457227.2_Splice_Site|JAKMIP1_ENST00000409021.3_Splice_Site|JAKMIP1_ENST00000409371.3_Splice_Site|JAKMIP1_ENST00000410077.2_Splice_Site|JAKMIP1_ENST00000409831.1_Splice_Site	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1						cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTTTCTTTCTGCAGCCACA	0.577																																																	0													60	53	55					4																	6082040		2203	4300	6503	SO:0001630	splice_region_variant	0			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1102-1G>C	4.37:g.6082040C>G			A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Splice_Site	SNP	-	e6-1	ENST00000282924.5	37	c.1102-1	CCDS3385.1	4	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625643	0.28889	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4512	0.83991	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAKMIP1	6132941	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	4.925000	0.63425	2.192000	0.70111	0.561000	0.74099	.	JAKMIP1	-	-	ENSG00000152969		0.577	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2	-	0	55	0	C	NM_144720	Intron	6082040	-1	tier1	-	no_errors	ENST00000409021	ensembl	human	known	74_37	splice_site	9.09	40	4	SNP	1.000	G	G	6082040	C	G	6082040	5	3	181	1	0	0	0	0	0	0	1	0	7967	927	32	5	1529	5	JAKMIP1	4	6082040	Splice_Site	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	346903	6082040	185072236	66	44966											
TADA2B	93624	genome.wustl.edu	37	chr4	7056573	7056573	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaggcttcgagctcctgtCagatcgcgagaaggtgctct	7	10	12	12	3	2	2	1	0	1	2	6	4	4	2	2	2	2	3	2	2	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:7056573C>G	ENST00000310074.7	+	2	1244	c.1055C>G	c.(1054-1056)tCa>tGa	p.S352*	TADA2B_ENST00000512388.1_Nonsense_Mutation_p.S277*|TADA2B_ENST00000515646.1_Nonsense_Mutation_p.S260*	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	352					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						GAGCTCCTGTCAGATCGCGAG	0.522																																																	0													67	73	71					4																	7056573		1961	4145	6106	SO:0001587	stop_gained	0			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.1055C>G	4.37:g.7056573C>G	ENSP00000308022:p.Ser352*		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Nonsense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.S352*	ENST00000310074.7	37	c.1055	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.863921	0.99702	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.0973	18.2471	0.89989	0.0:1.0:0.0:0.0	.	.	.	.	X	352;277;260	.	ENSP00000308022:S352X	S	+	2	0	TADA2B	7107474	1.000000	0.71417	0.727000	0.30756	0.335000	0.28730	7.305000	0.78891	2.307000	0.77673	0.561000	0.74099	TCA	TADA2B	-	superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2	ENSG00000173011		0.522	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	-	0	73	0	C	NM_152293		7056573	1	tier1	-	no_errors	ENST00000310074	ensembl	human	known	74_37	nonsense	7.58	61	5	SNP	1.000	G	G	7056573	C	G	7056573	4	3	181	1	0	0	0	0	0	1	0	0	15558	838	29	5	1061	5	TADA2B	4	7056573	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	974533	7056573	184097703	67	44967											
ARHGAP24	83478	genome.wustl.edu	37	chr4	86916190	86916190	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggagcctacaggccagaagGagctcttcactgaaggtatc	11	7	13	10	0	2	2	1	1	1	1	3	4	2	4	2	4	3	2	2	4	4	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:86916190G>A	ENST00000395184.1	+	9	1849	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	ARHGAP24_ENST00000395183.2_Silent_p.R366R|ARHGAP24_ENST00000264343.4_Silent_p.R368R	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	461					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)		AGGCCAGAAGGAGCTCTTCAC	0.522																																																	0													59	64	62					4																	86916190		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1383G>A	4.37:g.86916190G>A			Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R461	ENST00000395184.1	37	c.1383	CCDS34025.1	4																																																																																			ARHGAP24	-	NULL	ENSG00000138639		0.522	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	-	0	61	0	G	NM_031305		86916190	1	tier1	-	no_errors	ENST00000395184	ensembl	human	known	74_37	silent	21.82	43	12	SNP	1.000	A	A	86916190	G	A	86916190	2	1	181	1	0	0	0	0	0	0	0	1	873	1165	41	3		3	ARHGAP24	4	86916190	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	79859617	86916190	104238086	68	44968											
PTPN13	5783	genome.wustl.edu	37	chr4	87684273	87684273	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgatgtaactgattactCagaccgtggagattcagaca	12	12	9	8	1	3	5	2	2	1	3	3	6	3	5	1	1	2	1	1	1	2	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:87684273C>G	ENST00000411767.2	+	24	4010	c.3947C>G	c.(3946-3948)tCa>tGa	p.S1316*	PTPN13_ENST00000316707.6_Nonsense_Mutation_p.S1125*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.S1316*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.S1297*|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.S1316*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1316					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)		ACTGATTACTCAGACCGTGGA	0.393																																																	0													121	121	121					4																	87684273		1901	4113	6014	SO:0001587	stop_gained	0				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.3947C>G	4.37:g.87684273C>G	ENSP00000407249:p.Ser1316*		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S1316*	ENST00000411767.2	37	c.3947	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	c	44	11.158399	0.99524	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.45	3.71	0.42584	.	0.269957	0.26499	N	0.024025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	12.516	0.56032	0.0:0.8623:0.0:0.1377	.	.	.	.	X	1297;1316;1125;1316;1316;1265	.	ENSP00000322675:S1125X	S	+	2	0	PTPN13	87903297	0.995000	0.38212	0.012000	0.15200	0.271000	0.26615	3.462000	0.53042	0.647000	0.30713	-0.148000	0.13756	TCA	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13	ENSG00000163629		0.393	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	-	0	38	0	C			87684273	1	tier1	-	no_errors	ENST00000436978	ensembl	human	known	74_37	nonsense	12.77	41	6	SNP	0.919	G	G	87684273	C	G	87684273	4	3	181	1	0	0	0	0	0	1	0	0	12825	838	29	5	4037	5	PTPN13	4	87684273	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	768083	87684273	103470003	69	44969											
CLPTM1L	81037	genome.wustl.edu	37	chr5	1344846	1344846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatgcagttggcgtcgccGgagcacgggcgggtgtagac	6	7	19	9	5	0	1	0	0	0	1	1	3	0	3	1	5	2	4	1	5	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:1344846G>A	ENST00000320895.5	-	1	368	c.111C>T	c.(109-111)tcC>tcT	p.S37S	CLPTM1L_ENST00000507807.1_5'Flank|CLPTM1L_ENST00000320927.6_Silent_p.S37S	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	37					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)		TGGCGTCGCCGGAGCACGGGC	0.711																																																	0													19	19	19					5																	1344846		2181	4286	6467	SO:0001819	synonymous_variant	0			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.111C>T	5.37:g.1344846G>A			D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	pfam_CLPTM1	p.S37	ENST00000320895.5	37	c.111	CCDS3862.1	5																																																																																			CLPTM1L	-	pfam_CLPTM1	ENSG00000049656		0.711	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	-	0	37	0	G	NM_030782		1344846	-1	tier1	-	no_errors	ENST00000320895	ensembl	human	known	74_37	silent	12.50	35	5	SNP	0.086	A	A	1344846	G	A	1344846	2	1	181	1	0	0	0	0	0	0	0	1	3562	1103	39	1		1	CLPTM1L	5	1344846	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09		1344846	179570414	70	44970											
HCN1	348980	genome.wustl.edu	37	chr5	45262502	45262502	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgctgctgcggctgctGttgcatgagtgacagctggg	5	11	15	10	1	0	2	0	2	0	0	0	2	0	2	1	2	7	7	1	2	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:45262502G>A	ENST00000303230.4	-	8	2251	c.2194C>T	c.(2194-2196)Cag>Tag	p.Q732*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	732	Gln-rich.				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						tgcggctgctgttgcATGAGT	0.652																																																	0													27	29	28					5																	45262502		2203	4300	6503	SO:0001587	stop_gained	0			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.2194C>T	5.37:g.45262502G>A	ENSP00000307342:p.Gln732*			Nonsense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.Q732*	ENST00000303230.4	37	c.2194	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.363737	0.95877	.	.	ENSG00000164588	ENST00000303230	.	.	.	4.23	4.23	0.50019	.	0.150172	0.28230	N	0.016103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.8165	0.70039	0.0:0.0:1.0:0.0	.	.	.	.	X	732	.	ENSP00000307342:Q732X	Q	-	1	0	HCN1	45298259	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.996000	0.49449	1.915000	0.55452	0.655000	0.94253	CAG	HCN1	-	NULL	ENSG00000164588		0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1		0	55	0	G	NM_021072		45262502	-1			no_errors	ENST00000303230	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	A	A	45262502	G	A	45262502	4	1	181	1	0	0	0	0	0	1	0	0	7023	1386	48	3	482	3	HCN1	5	45262502	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	43917656	45262502	135652758	71	44971											
ELOVL7	79993	genome.wustl.edu	37	chr5	60053363	60053363	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgatgtcaaatattttttCcaccacaaatacttctggta	14	15	4	8	0	2	1	1	1	1	0	3	1	3	1	2	1	1	1	2	1	6	7			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:60053363C>T	ENST00000508821.1	-	8	923	c.609G>A	c.(607-609)tgG>tgA	p.W203*	ELOVL7_ENST00000438340.1_Nonsense_Mutation_p.W203*|ELOVL7_ENST00000425382.1_Nonsense_Mutation_p.W203*|ELOVL7_ENST00000505959.1_Nonsense_Mutation_p.W190*	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	203					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)				AATATTTTTTCCACCACAAAT	0.368																																																	0													81	81	81					5																	60053363		2203	4300	6503	SO:0001587	stop_gained	0			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.609G>A	5.37:g.60053363C>T	ENSP00000424123:p.Trp203*		Q589T3|Q9H5D0|Q9NT66	Nonsense_Mutation	SNP	pfam_GNS1_SUR4	p.W203*	ENST00000508821.1	37	c.609	CCDS34164.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.741797	0.98935	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3161	19.9052	0.97004	0.0:1.0:0.0:0.0	.	.	.	.	X	203;203;203;190	.	ENSP00000402634:W203X	W	-	3	0	ELOVL7	60089120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.338000	0.79269	2.776000	0.95493	0.655000	0.94253	TGG	ELOVL7	-	pfam_GNS1_SUR4	ENSG00000164181		0.368	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL7	HGNC	protein_coding	OTTHUMT00000368195.1	-	0	71	0	C			60053363	-1	tier1	-	no_errors	ENST00000425382	ensembl	human	known	74_37	nonsense	7.76	107	9	SNP	1.000	T	T	60053363	C	T	60053363	4	4	181	1	0	0	0	0	0	1	0	0	5095	856	30	3	244	3	ELOVL7	5	60053363	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	14790861	60053363	120861897	72	44972											
NLN	57486	genome.wustl.edu	37	chr5	65088483	65088483	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcatcagatttgtgcacagGtgagttttttttttccccca	7	17	8	9	0	1	2	1	1	0	1	2	2	2	2	2	1	2	3	2	1	0	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:65088483G>A	ENST00000380985.5	+	9	1705		c.e9+1		NLN_ENST00000502464.1_Splice_Site	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)							mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TTGTGCACAGGTGAGTTTTTT	0.453																																																	0													93	89	90					5																	65088483		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1527+1G>A	5.37:g.65088483G>A			Q9ULJ4	Splice_Site	SNP	-	e9+1	ENST00000380985.5	37	c.1527+1	CCDS3989.1	5	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574213	0.86542	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000509935	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLN	65124239	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.420000	0.97426	2.778000	0.95560	0.655000	0.94253	.	NLN	-	-	ENSG00000123213		0.453	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1		0	73	0	G		Intron	65088483	1			no_errors	ENST00000380985	ensembl	human	known	74_37	splice_site	8.00	46	4	SNP	1.000	A	A	65088483	G	A	65088483	5	1	181	1	0	0	0	0	0	0	1	0	10506	1275	44	3	1562	3	NLN	5	65088483	Splice_Site	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	5035120	65088483	115826777	73	44973											
BDP1	55814	genome.wustl.edu	37	chr5	70809019	70809019	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgttccaaaagcaaatctCttcctcaagaacagaagcca	15	9	5	12	0	2	2	1	0	1	2	5	2	4	2	3	0	3	2	3	0	6	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:70809019C>G	ENST00000358731.4	+	19	4518	c.4255C>G	c.(4255-4257)Ctt>Gtt	p.L1419V	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	1419					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)		AAGCAAATCTCTTCCTCAAGA	0.423																																																	0													62	59	60					5																	70809019		1827	4082	5909	SO:0001583	missense	0			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.4255C>G	5.37:g.70809019C>G	ENSP00000351575:p.Leu1419Val		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.L1419V	ENST00000358731.4	37	c.4255	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297971	0.60086	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.25579	1.79	4.38	4.38	0.52667	.	0.156358	0.30464	N	0.009561	T	0.43678	0.1258	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.83275	0.996;0.994	T	0.28138	-1.0053	10	0.54805	T	0.06	.	13.1583	0.59531	0.0:1.0:0.0:0.0	.	1419;1419	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	V	1419;999	ENSP00000351575:L1419V	ENSP00000351575:L1419V	L	+	1	0	BDP1	70844775	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	1.483000	0.35497	2.387000	0.81309	0.484000	0.47621	CTT	BDP1	-	NULL	ENSG00000145734		0.423	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	-	0	102	0	C	NM_018429		70809019	1	tier1	-	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	7.84	94	8	SNP	1.000	G	G	70809019	C	G	70809019	3	3	181	1	0	0	0	0	1	0	0	0	1396	913	32	5	4329	5	BDP1	5	70809019	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	5720536	70809019	110106241	74	44974											
VCAN	1462	genome.wustl.edu	37	chr5	82818043	82818043	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctttggacctcaggcGctttctacgccacagccccc	6	8	10	17	2	2	0	1	0	1	0	2	2	2	1	5	3	2	1	5	3	1	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:82818043G>A	ENST00000265077.3	+	7	4483	c.3918G>A	c.(3916-3918)gcG>gcA	p.A1306A	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.A1306A|VCAN_ENST00000512590.2_Silent_p.A1258A|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1306	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)	p.A1306A(1)		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)	GACCTCAGGCGCTTTCTACGC	0.448																																																	1	Substitution - coding silent(1)	large_intestine(1)											60	61	61					5																	82818043		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3918G>A	5.37:g.82818043G>A			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.A1306	ENST00000265077.3	37	c.3918	CCDS4060.1	5																																																																																			VCAN	-	NULL	ENSG00000038427		0.448	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	55	0	G	NM_004385		82818043	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	silent	24.49	37	12	SNP	0.001	A	A	82818043	G	A	82818043	2	1	181	1	0	0	0	0	0	0	0	1	17187	1074	38	1		1	VCAN	5	82818043	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	12009024	82818043	98097217	75	44975											
C5orf36	285600	genome.wustl.edu	37	chr5	93856381	93856381	+	Missense_Mutation	SNP	T	T	G	0	1	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	tttgctgtgaattgtttattTcattatggctttgtaatttg	7	23	8	3	0	1	1	1	1	0	0	1	1	1	1	0	1	1	4	0	1	4	9			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:93856381T>G	ENST00000329378.7	-	5	791	c.542A>C	c.(541-543)gAa>gCa	p.E181A	KIAA0825_ENST00000312498.7_Missense_Mutation_p.E181A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.E181A|KIAA0825_ENST00000513200.3_Missense_Mutation_p.E181A	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	181										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						ATTGTTTATTTCATTATGGCT	0.323																																																	0													101	102	102					5																	93856381		2202	4300	6502	SO:0001583	missense	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.542A>C	5.37:g.93856381T>G	ENSP00000331385:p.Glu181Ala		O94914|Q6ZNN2	Missense_Mutation	SNP	NULL	p.E181A	ENST00000329378.7	37	c.542	CCDS4070.1	5	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468077	0.43839	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;D;D	0.85955	0.86;0.86;-2.05;-2.05	5.51	5.51	0.81932	.	1.353990	0.04077	N	0.309011	D	0.85557	0.5724	L	0.54323	1.7	0.35762	D	0.820282	P;P	0.46142	0.873;0.649	B;B	0.39660	0.306;0.164	T	0.77167	-0.2687	10	0.48119	T	0.1	.	15.611	0.76716	0.0:0.0:0.0:1.0	.	181;181	Q8IV33;Q8IV33-2	K0825_HUMAN;.	A	181	ENSP00000424618:E181A;ENSP00000400288:E181A;ENSP00000312205:E181A;ENSP00000331385:E181A	ENSP00000312205:E181A	E	-	2	0	KIAA0825	93882137	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	2.723000	0.47277	2.091000	0.63221	0.477000	0.44152	GAA	KIAA0825	-	NULL	ENSG00000185261		0.323	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000371180.2	-	0	48	0	T	NM_173665		93856381	-1	tier1	-	no_errors	ENST00000427991	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	G	G	93856381	T	G	93856381	3	3	181	1	0	0	0	0	1	0	0	0	2302	1783	62	4	3358	4	C5orf36	5	93856381	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	11038338	93856381	87058879	76	44976											
CDC23	8697	genome.wustl.edu	37	chr5	137534426	137534426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgtatatatgagccaGaaaaaactctttcatccagg	13	12	7	9	0	3	2	1	1	2	1	4	2	4	2	2	1	2	1	2	1	6	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:137534426G>T	ENST00000394886.2	-	7	730	c.700C>A	c.(700-702)Ctg>Atg	p.L234M		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	234					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)			ATATGAGCCAGAAAAAACTCT	0.438																																																	0													119	130	126					5																	137534426		2203	4300	6503	SO:0001583	missense	0			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.700C>A	5.37:g.137534426G>T	ENSP00000378350:p.Leu234Met		A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	pfam_APC8,pfam_TPR_1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L234M	ENST00000394886.2	37	c.700	CCDS4200.2	5	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248464	0.22880	.	.	ENSG00000094880	ENST00000394886	T	0.72835	-0.69	6.07	3.97	0.46021	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.054044	0.64402	D	0.000001	T	0.51329	0.1668	N	0.16307	0.4	0.80722	D	1	B	0.17852	0.024	B	0.19946	0.027	T	0.43605	-0.9381	10	0.22109	T	0.4	-10.5685	9.6553	0.39921	0.2895:0.0:0.7105:0.0	.	234	Q9UJX2	CDC23_HUMAN	M	234	ENSP00000378350:L234M	ENSP00000378350:L234M	L	-	1	2	CDC23	137562325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.300000	0.43620	1.549000	0.49425	0.655000	0.94253	CTG	CDC23	-	pfscan_TPR-contain_dom	ENSG00000094880		0.438	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC23	HGNC	protein_coding	OTTHUMT00000251275.2		0	43	0	G			137534426	-1			no_errors	ENST00000394886	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	137534426	G	T	137534426	3	4	181	1	0	0	0	0	1	0	0	0	3068	933	33	3	1133	3	CDC23	5	137534426	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	43678045	137534426	43380834	77	44977											
PFDN1	5201	genome.wustl.edu	37	chr5	139682640	139682640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttaccttcttcagctctaGatccacgggggcggccatct	6	13	9	13	2	4	1	1	0	3	1	5	1	5	1	3	3	2	1	3	3	2	5	rs371310256		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:139682640G>C	ENST00000261813.4	-	1	66	c.19C>G	c.(19-21)Cta>Gta	p.L7V	PFDN1_ENST00000514611.1_5'Flank|PFDN1_ENST00000524074.1_Missense_Mutation_p.L7V|PFDN1_ENST00000510217.1_Missense_Mutation_p.L7V	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	7					'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537)	prefoldin complex (GO:0016272)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGCTCTAGATCCACGGGG	0.557																																																	0								G	VAL/LEU	0,4406		0,0,2203	225	244	237		19	1.9	1	5		237	1,8599		0,1,4299	no	missense	PFDN1	NM_002622.4	32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	7/123	139682640	1,13005	2203	4300	6503	SO:0001583	missense	0			Y17392	CCDS4222.1	5q31	2008-02-05	2006-02-24		ENSG00000113068	ENSG00000113068			8866	protein-coding gene	gene with protein product		604897	"prefoldin 1"			9630229	Standard	XM_005268465		Approved	PFD1	uc003lff.1	O60925	OTTHUMG00000129249	ENST00000261813.4:c.19C>G	5.37:g.139682640G>C	ENSP00000261813:p.Leu7Val		B2RD02|Q53F95|Q96EX6	Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.L7V	ENST00000261813.4	37	c.19	CCDS4222.1	5	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429605	0.43122	0.0	1.16E-4	ENSG00000113068	ENST00000261813;ENST00000510217;ENST00000524074	T;T	0.45276	0.94;0.9	5.63	1.94	0.25998	.	0.148924	0.45361	D	0.000361	T	0.35451	0.0932	L	0.58101	1.795	0.38641	D	0.951612	B	0.25955	0.138	B	0.21151	0.033	T	0.15809	-1.0424	10	0.30854	T	0.27	-3.5942	10.5866	0.45286	0.3207:0.0:0.6793:0.0	.	7	O60925	PFD1_HUMAN	V	7	ENSP00000261813:L7V;ENSP00000428707:L7V	ENSP00000261813:L7V	L	-	1	2	PFDN1	139662824	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	3.699000	0.54778	0.075000	0.16796	-0.140000	0.14226	CTA	PFDN1	-	NULL	ENSG00000113068		0.557	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN1	HGNC	protein_coding	OTTHUMT00000251354.3	-	0	105	0	G	NM_002622		139682640	-1	tier1	-	no_errors	ENST00000261813	ensembl	human	known	74_37	missense	22.64	82	24	SNP	1.000	C	C	139682640	G	C	139682640	3	2	181	1	0	0	0	0	1	0	0	0	11794	933	33	5	365	5	PFDN1	5	139682640	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	2148214	139682640	41232620	78	44978											
SLC4A9	83697	genome.wustl.edu	37	chr5	139743751	139743751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgctggtctttgagcGcctgctcttctctttcagca	4	14	10	13	1	4	1	1	1	3	0	5	1	4	1	2	1	4	3	2	1	0	3	rs372321175		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:139743751G>A	ENST00000230993.6	+	10	1474	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	SLC4A9_ENST00000506757.2_Missense_Mutation_p.R456H|SLC4A9_ENST00000507527.1_Missense_Mutation_p.R480H|SLC4A9_ENST00000506545.1_Missense_Mutation_p.R456H|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R445H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	480	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTTTGAGCGCCTGCTCTTC	0.612																																																	0								G	HIS/ARG	1,3813		0,1,1906	46	46	46		1367	3.8	1	5		46	0,8284		0,0,4142	no	missense	SLC4A9	NM_031467.2	29	0,1,6048	AA,AG,GG		0.0,0.0262,0.0083	probably-damaging	456/960	139743751	1,12097	1907	4142	6049	SO:0001583	missense	0			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1439G>A	5.37:g.139743751G>A	ENSP00000230993:p.Arg480His		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R480H	ENST00000230993.6	37	c.1439	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245325	0.80024	2.62E-4	0.0	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.67	3.8	0.43715	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000010	D	0.86564	0.5963	M	0.74881	2.28	0.45307	D	0.998306	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.989;0.993;0.988;0.988	D	0.88072	0.2801	10	0.72032	D	0.01	.	13.4648	0.61247	0.0764:0.0:0.9236:0.0	.	456;480;445;456	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	H	480;456;445;456;480	ENSP00000230993:R480H;ENSP00000424424:R456H;ENSP00000410056:R445H;ENSP00000422855:R456H;ENSP00000427661:R480H	ENSP00000230993:R480H	R	+	2	0	SLC4A9	139723935	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.761000	0.47589	1.349000	0.45751	0.313000	0.20887	CGC	SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000113073		0.612	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1	-	0	78	0	G	NM_031467		139743751	1	tier1	-	no_errors	ENST00000230993	ensembl	human	known	74_37	missense	21.33	59	16	SNP	1.000	A	A	139743751	G	A	139743751	3	1	181	1	0	0	0	0	1	0	0	0	14705	1087	38	1	1405	1	SLC4A9	5	139743751	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	61111	139743751	41171509	79	44979											
MFAP3	4238	genome.wustl.edu	37	chr5	153432773	153432773	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaaggggctgagaaacttCagaaggcctttgagattgca	12	9	13	7	0	1	4	1	3	0	3	1	6	1	4	1	3	2	2	1	3	3	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:153432773C>T	ENST00000436816.1	+	3	808	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	MFAP3_ENST00000322602.5_Nonsense_Mutation_p.Q197*|MFAP3_ENST00000439768.2_Nonsense_Mutation_p.Q51*	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	197					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		TGAGAAACTTCAGAAGGCCTT	0.463																																																	0													71	71	71					5																	153432773		2203	4300	6503	SO:0001587	stop_gained	0				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"Immunoglobulin superfamily / I-set domain containing"	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.589C>T	5.37:g.153432773C>T	ENSP00000409933:p.Gln197*		B2RDK0|B4DKA1|Q9NXA7	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q197*	ENST00000436816.1	37	c.589	CCDS4324.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.210939	0.97380	.	.	ENSG00000037749	ENST00000439768;ENST00000436816;ENST00000322602	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.2534	19.8034	0.96518	0.0:1.0:0.0:0.0	.	.	.	.	X	51;197;197	.	.	Q	+	1	0	MFAP3	153412966	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.600000	0.82769	2.760000	0.94817	0.655000	0.94253	CAG	MFAP3	-	NULL	ENSG00000037749		0.463	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3	HGNC	protein_coding	OTTHUMT00000252457.2		0	55	0	C	NM_005927		153432773	1			no_errors	ENST00000322602	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	1.000	T	T	153432773	C	T	153432773	4	4	181	1	0	0	0	0	0	1	0	0	9553	827	29	3	595	3	MFAP3	5	153432773	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	13689022	153432773	27482487	80	44980											
GEMIN5	25929	genome.wustl.edu	37	chr5	154291332	154291332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggaagtgagccacttgtGcacacaaaagtcatctgccc	12	8	9	12	0	2	1	1	1	1	0	2	2	2	2	2	1	3	1	2	1	3	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:154291332G>A	ENST00000285873.7	-	15	2197	c.2122C>T	c.(2122-2124)Cac>Tac	p.H708Y		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	708					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)			AGCCACTTGTGCACACAAAAG	0.468																																																	0													100	87	92					5																	154291332		2203	4300	6503	SO:0001583	missense	0			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.2122C>T	5.37:g.154291332G>A	ENSP00000285873:p.His708Tyr		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H708Y	ENST00000285873.7	37	c.2122	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	G	8.297	0.819144	0.16607	.	.	ENSG00000082516	ENST00000285873	T	0.59906	0.23	5.56	3.05	0.35203	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.164807	0.52532	N	0.000070	T	0.39759	0.1090	L	0.39147	1.195	0.34493	D	0.705181	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.33471	-0.9867	10	0.14252	T	0.57	-11.8372	4.7048	0.12844	0.5234:0.0:0.4766:0.0	.	707;708	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	Y	708	ENSP00000285873:H708Y	ENSP00000285873:H708Y	H	-	1	0	GEMIN5	154271525	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.871000	0.63042	0.931000	0.37242	-0.658000	0.03865	CAC	GEMIN5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000082516		0.468	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	-	0	62	0	G			154291332	-1	tier1	-	no_errors	ENST00000285873	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	154291332	G	A	154291332	3	1	181	1	0	0	0	0	1	0	0	0	6357	1319	46	3	2460	3	GEMIN5	5	154291332	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	858559	154291332	26623928	81	44981											
SLIT3	6586	genome.wustl.edu	37	chr5	168119628	168119628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgaatcctttgtccaGggggatgcacttggcctcat	7	13	10	11	0	1	1	1	1	0	0	3	2	3	2	4	3	2	1	4	3	2	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:168119628G>T	ENST00000519560.1	-	29	3579	c.3160C>A	c.(3160-3162)Ctg>Atg	p.L1054M	SLIT3_ENST00000332966.8_Missense_Mutation_p.L1061M|SLIT3_ENST00000404867.3_Missense_Mutation_p.L1054M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1054	EGF-like 4. {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)			CCTTTGTCCAGGGGGATGCAC	0.547																																					Ovarian(29;311 847 10864 17279 24903)												0													110	84	93					5																	168119628		2203	4300	6503	SO:0001583	missense	0			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.3160C>A	5.37:g.168119628G>T	ENSP00000430333:p.Leu1054Met		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1054M	ENST00000519560.1	37	c.3160	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845196	0.51164	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.93019	-3.15;-3.15;-3.15	5.0	4.06	0.47325	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.293891	0.33691	N	0.004641	D	0.90515	0.7028	L	0.58428	1.81	0.42859	D	0.994104	B	0.21905	0.062	B	0.29176	0.099	D	0.86432	0.1761	10	0.30078	T	0.28	.	9.2904	0.37782	0.0:0.1568:0.6812:0.162	.	1054	O75094	SLIT3_HUMAN	M	1054;1061;1054	ENSP00000430333:L1054M;ENSP00000332164:L1061M;ENSP00000384890:L1054M	ENSP00000332164:L1061M	L	-	1	2	SLIT3	168052206	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.043000	0.13971	2.320000	0.78422	0.650000	0.86243	CTG	SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184347		0.547	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0	61	0	G	NM_003062		168119628	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.998	T	T	168119628	G	T	168119628	3	4	181	1	0	0	0	0	1	0	0	0	14786	991	35	3	1443	3	SLIT3	5	168119628	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	13828296	168119628	12795632	82	44982											
HRH2	3274	genome.wustl.edu	37	chr5	175111023	175111023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgtgggctgagaggggatGatgccatcaatgaggtgtta	10	9	16	6	1	1	3	1	3	0	1	1	5	1	4	2	4	1	2	2	4	2	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:175111023G>A	ENST00000231683.2	+	1	2560	c.787G>A	c.(787-789)Gat>Aat	p.D263N	HRH2_ENST00000377291.2_Missense_Mutation_p.D263N	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	263					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.D263N(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GAGAGGGGATGATGCCATCAA	0.567																																																	1	Substitution - Missense(1)	cervix(1)											137	111	120					5																	175111023		2203	4300	6503	SO:0001583	missense	0				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.787G>A	5.37:g.175111023G>A	ENSP00000231683:p.Asp263Asn		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt	p.D263N	ENST00000231683.2	37	c.787	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	G	8.665	0.901564	0.17760	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.70986	-0.53;-0.53	4.13	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.776405	0.12297	N	0.481518	T	0.44932	0.1317	N	0.10733	0.035	0.09310	N	1	B;B	0.15719	0.004;0.014	B;B	0.25759	0.026;0.063	T	0.30707	-0.9969	10	0.15952	T	0.53	.	3.7832	0.08689	0.3231:0.1932:0.4837:0.0	.	263;263	P25021;Q7Z5R9	HRH2_HUMAN;.	N	263	ENSP00000366506:D263N;ENSP00000231683:D263N	ENSP00000231683:D263N	D	+	1	0	HRH2	175043629	0.002000	0.14202	0.008000	0.14137	0.773000	0.43773	0.915000	0.28638	0.404000	0.25506	0.555000	0.69702	GAT	HRH2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt	ENSG00000113749		0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1		0	44	0	G			175111023	1			no_errors	ENST00000377291	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	A	A	175111023	G	A	175111023	3	1	181	1	0	0	0	0	1	0	0	0	7383	1290	45	3	789	3	HRH2	5	175111023	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	6991395	175111023	5804237	83	44983											
ARL10	285598	genome.wustl.edu	37	chr5	175795982	175795982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtcgtggtggccaacaaGcaggtgagggctgtgagagg	8	7	19	7	2	0	2	0	2	0	1	2	3	0	2	1	5	2	2	1	5	2	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:175795982G>C	ENST00000310389.5	+	3	654	c.558G>C	c.(556-558)aaG>aaC	p.K186N	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	186					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGGCCAACAAGCAGGTGAGGG	0.662																																																	0													41	41	41					5																	175795982		2203	4300	6503	SO:0001583	missense	0			BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.558G>C	5.37:g.175795982G>C	ENSP00000308496:p.Lys186Asn			Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR	p.K186N	ENST00000310389.5	37	c.558	CCDS4400.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.93|11.93	1.784578|1.784578	0.31593|0.31593	.|.	.|.	ENSG00000175414|ENSG00000175414	ENST00000514533|ENST00000310389;ENST00000503175	.|D	.|0.90844	.|-2.74	5.16|5.16	3.23|3.23	0.37069|0.37069	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96546|0.96546	0.8873|0.8873	H|H	0.97732|0.97732	4.065|4.065	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	D|D	0.96462|0.96462	0.9342|0.9342	5|10	.|0.87932	.|D	.|0	-43.8773|-43.8773	10.2727|10.2727	0.43491|0.43491	0.2268:0.0:0.7732:0.0|0.2268:0.0:0.7732:0.0	.|.	.|186;186	.|Q8N8L6;Q6PCE2	.|ARL10_HUMAN;.	P|N	44|186;11	.|ENSP00000308496:K186N	.|ENSP00000308496:K186N	A|K	+|+	1|3	0|2	ARL10|ARL10	175728588|175728588	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	1.503000|1.503000	0.35715|0.35715	1.405000|1.405000	0.46838|0.46838	0.655000|0.655000	0.94253|0.94253	GCA|AAG	ARL10	-	pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF	ENSG00000175414		0.662	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL10	HGNC	protein_coding	OTTHUMT00000253145.2	-	0	161	0	G	NM_173664		175795982	1	tier1	-	no_errors	ENST00000310389	ensembl	human	known	74_37	missense	19.44	116	28	SNP	1.000	C	C	175795982	G	C	175795982	3	2	181	1	0	0	0	0	1	0	0	0	926	962	34	5	568	5	ARL10	5	175795982	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	684959	175795982	5119278	84	44984											
GRM6	2916	genome.wustl.edu	37	chr5	178413676	178413676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccttcaccatcttcttccGctcccccggcccgcagggca	4	8	8	21	3	3	0	1	0	2	0	5	0	5	0	6	2	0	3	6	2	0	3	rs149199617		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:178413676G>A	ENST00000517717.1	-	9	1617	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.R527W			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	527					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)		ATCTTCTTCCGCTCCCCCGGC	0.672													G|||	1	0.000199681	0	0	5008	,	,		16863	0.001		0	False		,,,				2504	0																0								G	TRP/ARG	0,4404		0,0,2202	36	33	34		1579	2.8	0.9	5	dbSNP_134	34	2,8594		0,2,4296	yes	missense	GRM6	NM_000843.3	101	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	527/878	178413676	2,12998	2202	4298	6500	SO:0001583	missense	0			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.1579C>T	5.37:g.178413676G>A	ENSP00000430767:p.Arg527Trp			Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.R527W	ENST00000517717.1	37	c.1579	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648188	0.67358	0.0	2.33E-4	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90955	-2.76;-2.76	4.63	2.76	0.32466	GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.95701	0.8602	M	0.92077	3.27	0.45330	D	0.998322	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.978	D	0.94880	0.8038	9	0.66056	D	0.02	.	10.6787	0.45802	0.0:0.0:0.4959:0.5041	.	683;527	E7EX65;O15303	.;GRM6_HUMAN	W	683;527;527	ENSP00000231188:R527W;ENSP00000430767:R527W	ENSP00000231188:R527W	R	-	1	2	GRM6	178346282	0.999000	0.42202	0.924000	0.36721	0.934000	0.57294	0.676000	0.25247	0.446000	0.26666	0.462000	0.41574	CGG	GRM6	-	pfam_GPCR_3_9-Cys_dom	ENSG00000113262		0.672	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	-	0	72	0	G			178413676	-1	tier1	rs149199617	no_errors	ENST00000231188	ensembl	human	known	74_37	missense	21.54	51	14	SNP	1.000	A	A	178413676	G	A	178413676	3	1	181	1	0	0	0	0	1	0	0	0	6828	1086	38	1	1066	1	GRM6	5	178413676	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	2617694	178413676	2501584	85	44985											
DEK	7913	genome.wustl.edu	37	chr6	18255979	18255979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cactttgccagaaggctttgGatgcattaagaaattcaaga	14	11	9	7	0	1	3	1	0	0	3	1	4	1	4	1	2	2	2	1	2	4	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:18255979G>C	ENST00000397239.3	-	6	1003	c.556C>G	c.(556-558)Cca>Gca	p.P186A	DEK_ENST00000244776.7_Missense_Mutation_p.P152A	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	186					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GAAGGCTTTGGATGCATTAAG	0.318			T	NUP214	AML																																			Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0													94	94	94					6																	18255979		2203	4300	6503	SO:0001583	missense	0			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.556C>G	6.37:g.18255979G>C	ENSP00000380414:p.Pro186Ala		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	pfam_DEK_C,pfam_SAP_dom,smart_SAP_dom	p.P186A	ENST00000397239.3	37	c.556	CCDS34344.1	6	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380913	0.82792	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000503715	D;D;D	0.94687	-3.49;-3.32;-1.7	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.71674	0.998;0.994	D;D	0.79108	0.992;0.988	D	0.96618	0.9457	10	0.72032	D	0.01	-9.5578	20.2009	0.98259	0.0:0.0:1.0:0.0	.	152;186	B4DN37;P35659	.;DEK_HUMAN	A	186;152;119	ENSP00000380414:P186A;ENSP00000244776:P152A;ENSP00000425399:P119A	ENSP00000244776:P152A	P	-	1	0	DEK	18363958	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.468000	0.73551	2.767000	0.95098	0.591000	0.81541	CCA	DEK	-	NULL	ENSG00000124795		0.318	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEK	HGNC	protein_coding	OTTHUMT00000039962.4	-	0	52	0	G			18255979	-1	tier1	-	no_errors	ENST00000397239	ensembl	human	known	74_37	missense	8.77	51	5	SNP	1.000	C	C	18255979	G	C	18255979	3	2	181	1	0	0	0	0	1	0	0	0	4438	1174	41	5	595	5	DEK	6	18255979	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09		18255979	152859088	86	44986											
KIAA1949	170954	genome.wustl.edu	37	chr6	30652519	30652519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacagaggggctggtggtGggggctggagctccactgct	6	7	20	8	0	0	2	0	0	0	2	1	4	1	3	1	7	2	4	1	7	0	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:30652519G>T	ENST00000274853.3	-	1	3153	c.1277C>A	c.(1276-1278)cCa>cAa	p.P426Q	PPP1R18_ENST00000399199.3_Missense_Mutation_p.P426Q|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	426						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ggctggtggtgggggCTGGAG	0.672																																																	0													14	15	15					6																	30652519		1130	2437	3567	SO:0001583	missense	0			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1277C>A	6.37:g.30652519G>T	ENSP00000274853:p.Pro426Gln		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	NULL	p.P426Q	ENST00000274853.3	37	c.1277	CCDS43444.1	6	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776742	0.49786	.	.	ENSG00000146112	ENST00000274853;ENST00000399199	T;T	0.28454	1.61;1.61	4.74	2.77	0.32553	.	0.429529	0.17216	N	0.182501	T	0.31796	0.0808	L	0.47716	1.5	0.35513	D	0.800775	D	0.71674	0.998	D	0.66716	0.946	T	0.08046	-1.0741	10	0.54805	T	0.06	-5.5849	8.9482	0.35771	0.087:0.1495:0.7636:0.0	.	426	Q6NYC8	PPR18_HUMAN	Q	426	ENSP00000274853:P426Q;ENSP00000382150:P426Q	ENSP00000274853:P426Q	P	-	2	0	KIAA1949	30760498	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	4.381000	0.59587	2.189000	0.69895	0.561000	0.74099	CCA	PPP1R18	-	NULL	ENSG00000146112		0.672	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R18	HGNC	protein_coding	OTTHUMT00000076498.2	-	0	18	0	G	NM_133471		30652519	-1	tier1	-	no_errors	ENST00000274853	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T	T	30652519	G	T	30652519	3	4	181	1	0	0	0	0	1	0	0	0	8290	1348	47	3	576	3	KIAA1949	6	30652519	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	12396540	30652519	140462548	87	44987											
C6orf106	64771	genome.wustl.edu	37	chr6	34574418	34574418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacagtctattctggtcttGctcagtttggtcaggagcag	7	14	12	8	0	5	1	2	1	3	0	5	2	5	2	0	3	2	3	0	3	1	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:34574418G>C	ENST00000374023.3	-	4	1018	c.775C>G	c.(775-777)Caa>Gaa	p.Q259E	C6orf106_ENST00000374026.3_Missense_Mutation_p.Q193E|C6orf106_ENST00000374021.1_Missense_Mutation_p.Q185E	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	259										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						TTCTGGTCTTGCTCAGTTTGG	0.502																																																	0													95	96	96					6																	34574418		2203	4300	6503	SO:0001583	missense	0			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.775C>G	6.37:g.34574418G>C	ENSP00000363135:p.Gln259Glu		B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	superfamily_UBA-like	p.Q259E	ENST00000374023.3	37	c.775	CCDS4796.1	6	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092403	0.55968	.	.	ENSG00000196821	ENST00000374023;ENST00000374026;ENST00000374021	.	.	.	5.18	5.18	0.71444	.	0.059814	0.64402	D	0.000002	T	0.29256	0.0728	L	0.44542	1.39	0.51012	D	0.999905	B;B	0.27656	0.184;0.002	B;B	0.26969	0.075;0.004	T	0.11641	-1.0579	9	0.07175	T	0.84	-3.8982	13.9542	0.64137	0.0:0.0:0.8482:0.1518	.	193;259	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	E	259;193;185	.	ENSP00000363133:Q185E	Q	-	1	0	C6orf106	34682396	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.108000	0.71522	2.569000	0.86673	0.561000	0.74099	CAA	C6orf106	-	NULL	ENSG00000196821		0.502	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf106	HGNC	protein_coding	OTTHUMT00000040251.1	-	0	121	0	G	NM_022758		34574418	-1	tier1	-	no_errors	ENST00000374023	ensembl	human	known	74_37	missense	9.80	92	10	SNP	1.000	C	C	34574418	G	C	34574418	3	2	181	1	0	0	0	0	1	0	0	0	2326	1328	46	5	129	5	C6orf106	6	34574418	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	3921899	34574418	136540649	88	44988											
FTSJD2	23070	genome.wustl.edu	37	chr6	37414120	37414120	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtaaatacagccagggtcgGaaggacatcgttgaggcttc	11	8	14	8	2	0	1	0	1	0	0	3	3	0	3	1	5	2	3	1	5	4	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:37414120G>A	ENST00000373451.4	+	4	503	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	113	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GCCAGGGTCGGAAGGACATCG	0.517																																																	0													201	194	196					6																	37414120		2203	4300	6503	SO:0001819	synonymous_variant	0			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.339G>A	6.37:g.37414120G>A			A8K949|Q14670|Q96FJ9	Silent	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_dom,pfscan_G_patch_dom	p.R113	ENST00000373451.4	37	c.339	CCDS4835.1	6																																																																																			CMTR1	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	ENSG00000137200		0.517	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMTR1	HGNC	protein_coding	OTTHUMT00000040408.1	-	0	76	0	G	NM_015050		37414120	1	tier1	-	no_errors	ENST00000373451	ensembl	human	known	74_37	silent	13.95	74	12	SNP	1.000	A	A	37414120	G	A	37414120	2	1	181	1	0	0	0	0	0	0	0	1	6115	1161	41	3		3	FTSJD2	6	37414120	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	2839702	37414120	133700947	89	44989											
DAAM2	23500	genome.wustl.edu	37	chr6	39835345	39835345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctaaatttcctccggaGcatggaccacgccacctgtg	8	10	9	14	2	1	0	0	0	1	0	3	2	3	2	5	2	2	2	5	2	2	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:39835345G>T	ENST00000398904.2	+	6	670	c.488G>T	c.(487-489)aGc>aTc	p.S163I	DAAM2_ENST00000274867.4_Missense_Mutation_p.S163I|DAAM2_ENST00000538976.1_Missense_Mutation_p.S163I			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	163	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTCCTCCGGAGCATGGACCAC	0.507																																																	0													110	113	112					6																	39835345		2115	4236	6351	SO:0001583	missense	0			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.488G>T	6.37:g.39835345G>T	ENSP00000381876:p.Ser163Ile		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.S163I	ENST00000398904.2	37	c.488	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867747	0.51588	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.89552	-2.53;-2.53;-2.53	5.43	5.43	0.79202	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.085421	0.85682	D	0.000000	D	0.85120	0.5624	M	0.61703	1.905	0.80722	D	1	B;B	0.33044	0.343;0.395	B;B	0.33454	0.102;0.164	D	0.86154	0.1589	10	0.59425	D	0.04	.	18.8305	0.92137	0.0:0.0:1.0:0.0	.	163;163	G5EA45;Q86T65	.;DAAM2_HUMAN	I	163	ENSP00000274867:S163I;ENSP00000381876:S163I;ENSP00000437808:S163I	ENSP00000274867:S163I	S	+	2	0	DAAM2	39943323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.709000	0.68384	2.540000	0.85666	0.561000	0.74099	AGC	DAAM2	-	pfam_GTPase-bd,superfamily_ARM-type_fold	ENSG00000146122		0.507	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	-	0	81	0	G			39835345	1	tier1	-	no_errors	ENST00000274867	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	39835345	G	T	39835345	3	4	181	1	0	0	0	0	1	0	0	0	4225	971	34	3	506	3	DAAM2	6	39835345	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	2421225	39835345	131279722	90	44990											
CYP39A1	51302	genome.wustl.edu	37	chr6	46554852	46554852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccgcttccaaatgccatGaagcagtccaagaaagagtg	13	8	9	11	1	0	3	0	1	0	2	3	3	3	3	4	0	2	2	4	0	4	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:46554852G>C	ENST00000275016.2	-	10	1415	c.1212C>G	c.(1210-1212)ttC>ttG	p.F404L	CYP39A1_ENST00000489657.1_5'UTR	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	404					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						CAAATGCCATGAAGCAGTCCA	0.433																																																	0													76	69	71					6																	46554852		2203	4300	6503	SO:0001583	missense	0			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.1212C>G	6.37:g.46554852G>C	ENSP00000275016:p.Phe404Leu		Q5VTT0|Q96FW5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.F404L	ENST00000275016.2	37	c.1212	CCDS4916.1	6	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488776	0.64074	.	.	ENSG00000146233	ENST00000275016	T	0.71698	-0.59	5.91	2.76	0.32466	.	0.052090	0.85682	D	0.000000	T	0.68421	0.2999	L	0.56340	1.77	0.39624	D	0.970071	D;D	0.69078	0.997;0.997	D;D	0.66196	0.942;0.942	T	0.68591	-0.5368	10	0.42905	T	0.14	-13.7867	9.4689	0.38831	0.3287:0.0:0.6713:0.0	.	384;404	B7Z786;Q9NYL5	.;CP39A_HUMAN	L	404	ENSP00000275016:F404L	ENSP00000275016:F404L	F	-	3	2	CYP39A1	46662811	0.851000	0.29673	0.103000	0.21229	0.912000	0.54170	1.281000	0.33214	0.845000	0.35118	0.650000	0.86243	TTC	CYP39A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	ENSG00000146233		0.433	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP39A1	HGNC	protein_coding	OTTHUMT00000040787.1	-	0	81	0	G			46554852	-1	tier1	-	no_errors	ENST00000275016	ensembl	human	known	74_37	missense	25.00	87	29	SNP	0.638	C	C	46554852	G	C	46554852	3	2	181	1	0	0	0	0	1	0	0	0	4186	1281	45	5	209	5	CYP39A1	6	46554852	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	6719507	46554852	124560215	91	44991											
IL17F	112744	genome.wustl.edu	37	chr6	52103596	52103596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaacgcgctggttttcattGatgatgccaatgtcaagctt	10	13	10	8	2	2	2	2	2	0	0	2	3	2	2	1	1	3	3	1	1	3	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:52103596G>C	ENST00000336123.4	-	2	293	c.186C>G	c.(184-186)atC>atG	p.I62M		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	62					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GGTTTTCATTGATGATGCCAA	0.478																																																	0													86	86	86					6																	52103596		2203	4300	6503	SO:0001583	missense	0			AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"Interleukins and interleukin receptors"	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.186C>G	6.37:g.52103596G>C	ENSP00000337432:p.Ile62Met		Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	pfam_IL-17_fam,prints_IL-17_chr	p.I62M	ENST00000336123.4	37	c.186	CCDS4938.1	6	.	.	.	.	.	.	.	.	.	.	G	2.277	-0.365555	0.05069	.	.	ENSG00000112116	ENST00000336123	T	0.55760	0.5	5.76	1.78	0.24846	.	0.977485	0.08413	N	0.949571	T	0.15392	0.0371	N	0.19112	0.55	0.09310	N	1	P	0.39717	0.684	B	0.39562	0.303	T	0.14008	-1.0488	10	0.34782	T	0.22	-19.4919	2.3291	0.04231	0.1654:0.1518:0.526:0.1568	.	62	Q96PD4	IL17F_HUMAN	M	62	ENSP00000337432:I62M	ENSP00000337432:I62M	I	-	3	3	IL17F	52211555	0.625000	0.27111	0.088000	0.20740	0.001000	0.01503	0.940000	0.28992	0.454000	0.26884	-0.188000	0.12872	ATC	IL17F	-	pfam_IL-17_fam	ENSG00000112116		0.478	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17F	HGNC	protein_coding	OTTHUMT00000040901.3	-	0	147	0	G	NM_052872		52103596	-1	tier1	-	no_errors	ENST00000336123	ensembl	human	known	74_37	missense	19.08	123	29	SNP	0.034	C	C	52103596	G	C	52103596	3	2	181	1	0	0	0	0	1	0	0	0	7665	1280	45	5	313	5	IL17F	6	52103596	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	5548744	52103596	119011471	92	44992											
ZBTB24	9841	genome.wustl.edu	37	chr6	109788901	109788901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaactctttgctgtgaaaGatttgccacagatttcacaa	13	12	8	8	0	2	4	1	1	1	3	2	5	2	4	1	0	3	1	1	0	3	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:109788901G>T	ENST00000230122.3	-	6	1492	c.1325C>A	c.(1324-1326)tCt>tAt	p.S442Y	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	442					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)		TGCTGTGAAAGATTTGCCACA	0.348																																																	0													105	103	104					6																	109788901		2203	4300	6503	SO:0001583	missense	0			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.1325C>A	6.37:g.109788901G>T	ENSP00000230122:p.Ser442Tyr		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S442Y	ENST00000230122.3	37	c.1325	CCDS34509.1	6	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398478	0.83120	.	.	ENSG00000112365	ENST00000230122	T	0.36520	1.25	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.056060	0.64402	D	0.000001	T	0.57917	0.2086	M	0.79614	2.46	0.39370	D	0.966068	D	0.89917	1.0	D	0.78314	0.991	T	0.60089	-0.7331	10	0.59425	D	0.04	-19.4321	19.8557	0.96758	0.0:0.0:1.0:0.0	.	442	O43167	ZBT24_HUMAN	Y	442	ENSP00000230122:S442Y	ENSP00000230122:S442Y	S	-	2	0	ZBTB24	109895594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.779000	0.68948	2.706000	0.92434	0.650000	0.86243	TCT	ZBTB24	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000112365		0.348	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB24	HGNC	protein_coding	OTTHUMT00000041758.1	-	0	59	0	G	NM_014797		109788901	-1	tier1	-	no_errors	ENST00000230122	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	T	T	109788901	G	T	109788901	3	4	181	1	0	0	0	0	1	0	0	0	17579	942	33	3	776	3	ZBTB24	6	109788901	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	57685305	109788901	61326166	93	44993											
RPF2	84154	genome.wustl.edu	37	chr6	111346663	111346663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaacttatggaaggattCatatgcagaagcaagaccta	16	9	9	7	0	1	2	1	0	0	2	1	4	1	4	1	2	4	3	1	2	8	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:111346663C>A	ENST00000441448.2	+	10	891	c.799C>A	c.(799-801)Cat>Aat	p.H267N		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	267						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.H267Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TGGAAGGATTCATATGCAGAA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											84	88	87					6																	111346663		2203	4300	6503	SO:0001583	missense	0			AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"ribosomal processing factor 2 homolog (S. cerevisiae)"		"brix domain containing 1"	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.799C>A	6.37:g.111346663C>A	ENSP00000402338:p.His267Asn		Q5VXN1|Q8N4A1	Missense_Mutation	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.H267N	ENST00000441448.2	37	c.799	CCDS5088.1	6	.	.	.	.	.	.	.	.	.	.	c	29.1	4.981040	0.92982	.	.	ENSG00000197498	ENST00000441448	T	0.73152	-0.72	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90595	0.4540	10	0.87932	D	0	-22.562	20.0693	0.97712	0.0:1.0:0.0:0.0	.	267;267	A8K800;Q9H7B2	.;RPF2_HUMAN	N	267	ENSP00000402338:H267N	ENSP00000402338:H267N	H	+	1	0	RPF2	111453356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.256000	0.78350	2.758000	0.94735	0.563000	0.77884	CAT	RPF2	-	NULL	ENSG00000197498		0.363	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPF2	HGNC	protein_coding	OTTHUMT00000041813.2	-	0	50	0	C	NM_032194		111346663	1	tier1	-	no_errors	ENST00000441448	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	A	A	111346663	C	A	111346663	3	1	181	1	0	0	0	0	1	0	0	0	13592	826	29	3	837	3	RPF2	6	111346663	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	1557762	111346663	59768404	94	44994											
TSPYL4	23270	genome.wustl.edu	37	chr6	116574842	116574842	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cagccatttttctggctgctGtcagcagcctcggcggcaga	6	10	12	13	2	2	1	1	0	1	1	3	1	2	1	2	3	4	4	2	3	0	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:116574842G>T	ENST00000420283.1	-	1	419	c.330C>A	c.(328-330)gaC>gaA	p.D110E	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	110					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		TCTGGCTGCTGTCAGCAGCCT	0.642																																																	0													7	7	7					6																	116574842		1831	4040	5871	SO:0001583	missense	0				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.330C>A	6.37:g.116574842G>T	ENSP00000410943:p.Asp110Glu		B4DYQ2|O94828|Q96GW8	Missense_Mutation	SNP	pfam_NAP_family	p.D110E	ENST00000420283.1	37	c.330	CCDS5106.1	6	.	.	.	.	.	.	.	.	.	.	G	1.872	-0.460026	0.04508	.	.	ENSG00000187189	ENST00000420283	T	0.19105	2.17	3.92	3.04	0.35103	.	.	.	.	.	T	0.09774	0.0240	M	0.65498	2.005	0.09310	N	1	B	0.33512	0.415	B	0.38264	0.269	T	0.35895	-0.9770	9	0.07644	T	0.81	-7.7618	12.9689	0.58501	0.0931:0.0:0.9069:0.0	.	110	Q9UJ04	TSYL4_HUMAN	E	110	ENSP00000410943:D110E	ENSP00000410943:D110E	D	-	3	2	TSPYL4	116681535	0.095000	0.21747	0.028000	0.17463	0.130000	0.20726	1.596000	0.36718	0.623000	0.30267	-1.598000	0.00824	GAC	TSPYL4	-	NULL	ENSG00000187189		0.642	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2		0	24	0	G			116574842	-1			no_errors	ENST00000420283	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.183	T	T	116574842	G	T	116574842	3	4	181	1	0	0	0	0	1	0	0	0	16709	1368	48	3	918	3	TSPYL4	6	116574842	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	5228179	116574842	54540225	95	44995											
C7orf70	84792	genome.wustl.edu	37	chr7	6370417	6370417	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtctcgccgccccagagcTtcaacaccactgcaggacac	10	5	8	18	2	2	1	1	0	1	1	3	2	2	2	4	1	3	2	4	1	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:6370417T>C	ENST00000313324.4	-	2	836	c.369A>G	c.(367-369)gaA>gaG	p.E123E	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	123						nucleus (GO:0005634)											GCCCCAGAGCTTCAACACCAC	0.622																																																	0													42	43	43					7																	6370417		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"STAT3-interacting protein as a repressor"		"chromosome 7 open reading frame 70"	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.369A>G	7.37:g.6370417T>C			Q75ML2|Q8NA52|Q9BRR7	Silent	SNP	NULL	p.E123	ENST00000313324.4	37	c.369	CCDS34599.1	7																																																																																			FAM220A	-	NULL	ENSG00000178397		0.622	FAM220A-001	KNOWN	basic|CCDS	protein_coding	FAM220A	HGNC	protein_coding	OTTHUMT00000242853.2	-	0	106	0	T	NM_001037163		6370417	-1	tier1	-	no_errors	ENST00000313324	ensembl	human	known	74_37	silent	10.53	102	12	SNP	0.000	C	C	6370417	T	C	6370417	2	2	181	1	0	0	0	0	0	0	0	1	2422	1606	56	4		4	C7orf70	7	6370417	Silent	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09		6370417	152768246	96	44996											
POM121	9883	genome.wustl.edu	37	chr7	72413681	72413681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcttcggccttcggcgctcCcgccagctcacagcccgcct	3	7	11	20	5	1	0	1	0	0	0	4	0	2	0	5	3	2	3	5	3	0	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:72413681C>T	ENST00000434423.2	+	11	3149	c.3149C>T	c.(3148-3150)cCc>cTc	p.P1050L	POM121_ENST00000446813.1_Missense_Mutation_p.P785L|POM121_ENST00000358357.3_Missense_Mutation_p.P785L|POM121_ENST00000257622.4_Missense_Mutation_p.P785L|POM121_ENST00000395270.1_Missense_Mutation_p.P785L			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1050	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)				TTCGGCGCTCCCGCCAGCTCA	0.667																																																	0													33	36	35					7																	72413681		2203	4297	6500	SO:0001583	missense	0			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.3149C>T	7.37:g.72413681C>T	ENSP00000405562:p.Pro1050Leu		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.P1050L	ENST00000434423.2	37	c.3149		7	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898777	0.33535	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.10099	2.91;3.06;2.91;3.06;3.25	2.87	2.87	0.33458	.	0.404164	0.18188	N	0.148927	T	0.11537	0.0281	L	0.51422	1.61	0.25074	N	0.990972	B;B	0.34103	0.058;0.437	B;B	0.33254	0.037;0.16	T	0.15065	-1.0450	10	0.87932	D	0	.	11.3136	0.49379	0.0:1.0:0.0:0.0	.	785;1050	A8MXF9;Q96HA1	.;P121A_HUMAN	L	785;785;785;785;1050	ENSP00000393020:P785L;ENSP00000257622:P785L;ENSP00000378687:P785L;ENSP00000351124:P785L;ENSP00000405562:P1050L	ENSP00000257622:P785L	P	+	2	0	POM121	72051617	0.014000	0.17966	0.063000	0.19743	0.113000	0.19764	2.368000	0.44222	1.611000	0.50210	0.173000	0.16961	CCC	POM121	-	NULL	ENSG00000196313		0.667	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	-	0	172	0	C			72413681	1	tier1	-	no_errors	ENST00000434423	ensembl	human	known	74_37	missense	5.52	154	9	SNP	0.266	T	T	72413681	C	T	72413681	3	4	181	1	0	0	0	0	1	0	0	0	12278	623	22	3	2392	3	POM121	7	72413681	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	66043264	72413681	86724982	97	44997											
MLXIPL	51085	genome.wustl.edu	37	chr7	73030405	73030405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtggtagccactcacactgGatataccaggccctccagat	10	8	10	13	0	1	1	1	0	0	1	2	2	2	2	4	4	2	1	4	4	3	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:73030405G>A	ENST00000313375.3	-	2	443	c.396C>T	c.(394-396)atC>atT	p.I132I	MLXIPL_ENST00000414749.2_Silent_p.I132I|MLXIPL_ENST00000434326.1_Silent_p.I132I|MLXIPL_ENST00000429400.2_Silent_p.I132I|MLXIPL_ENST00000354613.1_Silent_p.I132I|MLXIPL_ENST00000395189.1_Silent_p.I132I	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	132					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)				ACTCACACTGGATATACCAGG	0.587																																																	0													92	78	83					7																	73030405		2203	4300	6503	SO:0001819	synonymous_variant	0			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.396C>T	7.37:g.73030405G>A			C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.I132	ENST00000313375.3	37	c.396	CCDS5553.1	7																																																																																			MLXIPL	-	NULL	ENSG00000009950		0.587	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	-	0	82	0	G	NM_032951		73030405	-1	tier1	-	no_errors	ENST00000313375	ensembl	human	known	74_37	silent	17.39	57	12	SNP	0.998	A	A	73030405	G	A	73030405	2	1	181	1	0	0	0	0	0	0	0	1	9675	1164	41	3		3	MLXIPL	7	73030405	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	616724	73030405	86108258	98	44998											
RELN	5649	genome.wustl.edu	37	chr7	103155684	103155684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcctcccgacagggccGgcatctgcaggggagcgctc	6	5	15	15	4	1	0	0	0	1	0	4	3	3	1	3	4	2	3	3	4	0	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:103155684G>A	ENST00000428762.1	-	50	8226	c.8067C>T	c.(8065-8067)gcC>gcT	p.A2689A	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.A2689A|RELN_ENST00000343529.5_Silent_p.A2689A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2689					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)		CGACAGGGCCGGCATCTGCAG	0.527																																					NSCLC(146;835 1944 15585 22231 52158)												0													43	44	44					7																	103155684		2203	4300	6503	SO:0001819	synonymous_variant	0				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.8067C>T	7.37:g.103155684G>A			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.A2689	ENST00000428762.1	37	c.8067	CCDS47680.1	7																																																																																			RELN	-	superfamily_Sialidases	ENSG00000189056		0.527	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	54	0	G	NM_005045		103155684	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	silent	14.13	78	13	SNP	0.008	A	A	103155684	G	A	103155684	2	1	181	1	0	0	0	0	0	0	0	1	13265	1103	39	1		1	RELN	7	103155684	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	30125279	103155684	55982979	99	44999											
C7orf66	154907	genome.wustl.edu	37	chr7	108524135	108524135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggacaatccgtagatatgCacctttcacttgagatatgt	11	13	9	8	1	1	2	1	1	0	2	2	4	2	3	2	1	1	2	2	1	4	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:108524135C>T	ENST00000379007.2	-	2	331	c.277G>A	c.(277-279)Gca>Aca	p.A93T		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	93						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						CGTAGATATGCACCTTTCACT	0.353																																																	0													180	157	165					7																	108524135		2203	4300	6503	SO:0001583	missense	0			AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.277G>A	7.37:g.108524135C>T	ENSP00000368292:p.Ala93Thr			Missense_Mutation	SNP	NULL	p.A93T	ENST00000379007.2	37	c.277	CCDS34735.1	7	.	.	.	.	.	.	.	.	.	.	c	10.63	1.405395	0.25378	.	.	ENSG00000205174	ENST00000379007	.	.	.	2.87	-0.516	0.11950	.	.	.	.	.	T	0.15046	0.0363	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.28839	-1.0031	7	.	.	.	.	5.3515	0.16038	0.0:0.4128:0.0:0.5872	.	93	A4D0T2	CG066_HUMAN	T	93	.	.	A	-	1	0	C7orf66	108311371	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.486000	0.06513	-0.077000	0.12752	0.552000	0.68991	GCA	C7orf66	-	NULL	ENSG00000205174		0.353	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C7orf66	HGNC	protein_coding	OTTHUMT00000337420.1	-	0	63	0	C	NM_001024607		108524135	-1	tier1	-	no_errors	ENST00000379007	ensembl	human	putative	74_37	missense	22.73	68	20	SNP	0.001	T	T	108524135	C	T	108524135	3	4	181	1	0	0	0	0	1	0	0	0	2419	710	25	3	74	3	C7orf66	7	108524135	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	5368451	108524135	50614528	100	45000											
CAPZA2	830	genome.wustl.edu	37	chr7	116502691	116502691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatctggaggagcagttgtCtgatgaagagaaggtaagag	13	8	17	3	0	2	4	0	2	2	2	2	8	2	7	0	4	1	3	0	4	3	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:116502691C>G	ENST00000361183.3	+	1	165	c.26C>G	c.(25-27)tCt>tGt	p.S9C	CAPZA2_ENST00000490693.1_Missense_Mutation_p.S9C|CAPZA2_ENST00000466023.1_3'UTR|CAPZA2_ENST00000458284.2_Missense_Mutation_p.S9C	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	9					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			GAGCAGTTGTCTGATGAAGAG	0.701																																																	0													19	20	20					7																	116502691		2026	3980	6006	SO:0001583	missense	0				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"F-actin capping protein alpha-2 subunit"	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.26C>G	7.37:g.116502691C>G	ENSP00000354947:p.Ser9Cys		B4DG50	Missense_Mutation	SNP	pfam_CapZ_alpha,prints_CapZ_alpha	p.S9C	ENST00000361183.3	37	c.26	CCDS5768.1	7	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975521	0.74360	.	.	ENSG00000198898	ENST00000361183;ENST00000458284;ENST00000490693	.	.	.	3.81	3.81	0.43845	.	0.196977	0.44483	D	0.000450	T	0.64068	0.2565	M	0.73962	2.25	0.50813	D	0.999893	P	0.51537	0.946	P	0.49829	0.623	T	0.70475	-0.4861	9	0.87932	D	0	-6.2985	11.3522	0.49594	0.0:1.0:0.0:0.0	.	9	P47755	CAZA2_HUMAN	C	9	.	ENSP00000354947:S9C	S	+	2	0	CAPZA2	116289927	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.517000	0.53443	2.096000	0.63516	0.313000	0.20887	TCT	CAPZA2	-	NULL	ENSG00000198898		0.701	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA2	HGNC	protein_coding	OTTHUMT00000059506.4	-	0	8	0	C	NM_006136		116502691	1	tier1	-	no_errors	ENST00000361183	ensembl	human	known	74_37	missense	54.55	5	6	SNP	1.000	G	G	116502691	C	G	116502691	3	3	181	1	0	0	0	0	1	0	0	0	2648	913	32	5	28	5	CAPZA2	7	116502691	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	7978556	116502691	42635972	101	45001											
MGAM	8972	genome.wustl.edu	37	chr7	141796214	141796214	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagccctgtcctggagcGtgtgagtatggaggcctccg	5	9	16	11	2	1	1	1	1	0	0	3	3	3	3	4	4	2	1	4	4	1	1	rs369519766		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:141796214G>A	ENST00000549489.2	+	42	5098	c.5003G>A	c.(5002-5004)cGt>cAt	p.R1668H	MGAM_ENST00000475668.2_Splice_Site_p.R2564H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1668	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCCTGGAGCGTGTGAGTATG	0.577																																																	0								G	HIS/ARG	0,3900		0,0,1950	88	83	84		5003	-0.1	0	7		84	1,8263		0,1,4131	no	missense-near-splice	MGAM	NM_004668.2	29	0,1,6081	AA,AG,GG		0.0121,0.0,0.0082	benign	1668/1858	141796214	1,12163	1950	4132	6082	SO:0001630	splice_region_variant	0			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.5004+1G>A	7.37:g.141796214G>A			Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.R1668H	ENST00000549489.2	37	c.5003	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	3.097	-0.185626	0.06340	0.0	1.21E-4	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.91407	-2.84	5.2	-0.0489	0.13837	.	.	.	.	.	T	0.79868	0.4520	N	0.25890	0.77	0.09310	N	1	B	0.24651	0.108	B	0.15870	0.014	T	0.66968	-0.5789	9	0.51188	T	0.08	.	1.3181	0.02111	0.1838:0.4013:0.1122:0.3027	.	1668	O43451	MGA_HUMAN	H	1668;2565	ENSP00000447378:R1668H	ENSP00000373973:R1668H	R	+	2	0	MGAM	141442683	0.000000	0.05858	0.016000	0.15963	0.000000	0.00434	-0.627000	0.05521	0.051000	0.15978	-2.888000	0.00096	CGT	MGAM	-	pfam_Glyco_hydro_31	ENSG00000257335		0.577	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0	94	0	G		Missense_Mutation	141796214	1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	5.83	97	6	SNP	0.000	A	A	141796214	G	A	141796214	5	1	181	1	0	0	0	0	0	0	1	0	9579	1159	40	1	5165	1	MGAM	7	141796214	Splice_Site	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	25293523	141796214	17342449	102	45002											
SSPO	23145	genome.wustl.edu	37	chr7	149477372	149477372	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactccgactgcgtctccctCtgcccacccagctgcgaggc	5	8	9	19	3	2	0	0	0	2	0	4	2	3	0	4	1	5	1	4	1	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:149477372C>T	ENST00000378016.2	+	0	1443							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)			GCGTCTCCCTCTGCCCACCCA	0.662																																																	0													28	35	32					7																	149477372		2031	4166	6197			0			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.149477372C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.662	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	52	0	C			149477372	1	tier1	-	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	16.33	41	8	SNP	1.000	T	T	149477372	C	T	149477372	1	4	181	0	1	0	0	0	0	0	0	0	15236	900	32	3		3	SSPO	7	149477372	RNA	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	7681158	149477372	9661291	103	45003											
DLC1	10395	genome.wustl.edu	37	chr8	12946153	12946153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggcgctttaagatttcctCtggcacagcagggacttcaa	10	11	10	10	1	2	1	1	0	1	1	3	2	3	2	1	3	1	3	1	3	3	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:12946153C>G	ENST00000276297.4	-	16	4544	c.4135G>C	c.(4135-4137)Gag>Cag	p.E1379Q	DLC1_ENST00000512044.2_Missense_Mutation_p.E976Q|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.E868Q|DLC1_ENST00000358919.2_Missense_Mutation_p.E942Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1379	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAGATTTCCTCTGGCACAGCA	0.463																																																	0													117	123	121					8																	12946153		2203	4300	6503	SO:0001583	missense	0			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.4135G>C	8.37:g.12946153C>G	ENSP00000276297:p.Glu1379Gln		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.E1379Q	ENST00000276297.4	37	c.4135	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111388	0.37242	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.05	5.05	0.67936	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.82213	0.4988	L	0.33189	0.99	0.80722	D	1	B;D;D	0.89917	0.392;0.971;1.0	B;D;D	0.71870	0.349;0.926;0.975	T	0.79269	-0.1873	10	0.30078	T	0.28	.	18.9978	0.92819	0.0:1.0:0.0:0.0	.	1379;976;942	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	Q	1379;942;318;976;868	ENSP00000276297:E1379Q;ENSP00000351797:E942Q;ENSP00000422595:E976Q;ENSP00000428028:E868Q	ENSP00000276297:E1379Q	E	-	1	0	DLC1	12990524	0.997000	0.39634	0.870000	0.34147	0.278000	0.26855	3.582000	0.53921	2.793000	0.96121	0.655000	0.94253	GAG	DLC1	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	ENSG00000164741		0.463	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0	96	0	C	NM_182643, NM_006094		12946153	-1	tier1	-	no_errors	ENST00000276297	ensembl	human	known	74_37	missense	13.39	97	15	SNP	0.991	G	G	12946153	C	G	12946153	3	3	181	1	0	0	0	0	1	0	0	0	4564	922	32	5	463	5	DLC1	8	12946153	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09		12946153	133417869	104	45004											
PCM1	5108	genome.wustl.edu	37	chr8	17813047	17813047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttctgtaggcttggcaccgGttgtcaatggagaatccaat	9	12	11	9	1	2	1	1	0	1	1	3	2	3	1	2	4	0	4	2	4	4	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:17813047G>C	ENST00000519253.1	+	10	1608	c.1357G>C	c.(1357-1359)Gtt>Ctt	p.V453L	PCM1_ENST00000325083.8_Missense_Mutation_p.V453L|PCM1_ENST00000524226.1_Missense_Mutation_p.V453L|PCM1_ENST00000518537.1_Missense_Mutation_p.V492L			Q15154	PCM1_HUMAN	pericentriolar material 1	453					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)		CTTGGCACCGGTTGTCAATGG	0.448			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	0													89	83	85					8																	17813047		1928	4134	6062	SO:0001583	missense	0				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.1357G>C	8.37:g.17813047G>C	ENSP00000431099:p.Val453Leu		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	NULL	p.V453L	ENST00000519253.1	37	c.1357		8	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591758	0.28357	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000519253;ENST00000524226	T;T;T;T;T	0.23348	3.67;2.78;1.91;3.67;3.43	4.79	2.97	0.34412	.	0.622695	0.17867	N	0.159318	T	0.18341	0.0440	L	0.36672	1.1	0.27499	N	0.952052	B;B;B;B	0.15930	0.012;0.015;0.01;0.012	B;B;B;B	0.22880	0.03;0.042;0.022;0.03	T	0.18209	-1.0344	10	0.28530	T	0.3	-5.044	6.7232	0.23342	0.1522:0.0:0.7054:0.1424	.	453;492;453;453	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	L	453;492;492;492;453;453	ENSP00000327077:V453L;ENSP00000428131:V492L;ENSP00000428123:V492L;ENSP00000431099:V453L;ENSP00000430521:V453L	ENSP00000327077:V453L	V	+	1	0	PCM1	17857327	0.948000	0.32251	0.702000	0.30337	0.751000	0.42716	1.545000	0.36169	0.692000	0.31613	0.655000	0.94253	GTT	PCM1	-	NULL	ENSG00000078674		0.448	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	-	0	88	0	G	NM_006197		17813047	1	tier1	-	no_errors	ENST00000325083	ensembl	human	known	74_37	missense	21.09	101	27	SNP	0.421	C	C	17813047	G	C	17813047	3	2	181	1	0	0	0	0	1	0	0	0	11623	1261	44	5	1387	5	PCM1	8	17813047	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	4866894	17813047	128550975	105	45005											
BMP1	649	genome.wustl.edu	37	chr8	22049619	22049620	+	Frame_Shift_Del	DEL	TA	TA	-																															gccgcctgtgctggtacgacTatgtggaggtccgagatggc																										TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:22049619_22049620delTA	ENST00000306385.5	+	9	1805_1806	c.1135_1136delTA	c.(1135-1137)tatfs	p.Y379fs	BMP1_ENST00000397814.3_Frame_Shift_Del_p.Y379fs|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Frame_Shift_Del_p.Y379fs|BMP1_ENST00000397816.3_Frame_Shift_Del_p.Y379fs	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	379	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGGTACGACTATGTGGAGGTC	0.614																																																	0																																										SO:0001589	frameshift_variant	0				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.1135_1136delTA	8.37:g.22049619_22049620delTA	ENSP00000305714:p.Tyr379fs		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Frame_Shift_Del	DEL	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom	p.Y379fs	ENST00000306385.5	37	c.1135_1136	CCDS6026.1	8																																																																																			BMP1	-	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000168487		0.614	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2		0	73	0	TA	NM_006132		22049620	1	tier1		no_errors	ENST00000306385	ensembl	human	known	74_37	frame_shift_del	14.63	35	6	DEL	1.000:1.000	-	-	22049620	TA	-	22049619	7	5	181	1	0	1	0	1	0	0	0	0	1458	1522	53	0	1169	0	BMP1	8	22049619	Frame_Shift_Del	DEL	TA	TCGA-Z6-A8JD-01A-11D-A36J-09	4236572	22049619	124314403	106	45006											
FUT10	84750	genome.wustl.edu	37	chr8	33247192	33247192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacgtggcagtgtagttGaacaaggtgatcactggttt	10	12	13	6	1	1	3	1	3	0	0	1	3	1	3	0	3	2	4	0	3	4	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:33247192G>T	ENST00000327671.5	-	4	1132	c.501C>A	c.(499-501)ttC>ttA	p.F167L	FUT10_ENST00000335589.3_Missense_Mutation_p.F105L|FUT10_ENST00000518672.1_Missense_Mutation_p.F139L|FUT10_ENST00000524021.1_Missense_Mutation_p.F139L|FUT10_ENST00000518076.1_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	167					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CAGTGTAGTTGAACAAGGTGA	0.458																																																	0													138	116	124					8																	33247192		2203	4300	6503	SO:0001583	missense	0			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.501C>A	8.37:g.33247192G>T	ENSP00000332757:p.Phe167Leu		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.F167L	ENST00000327671.5	37	c.501	CCDS6088.1	8	.	.	.	.	.	.	.	.	.	.	g	18.07	3.541218	0.65085	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.17	3.19	0.36642	.	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	H	0.96398	3.815	0.58432	D	0.999996	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.995;1.0;0.98;1.0;0.999	T	0.73199	-0.4058	10	0.87932	D	0	-0.2774	7.7362	0.28815	0.2856:0.0:0.7144:0.0	.	217;167;139;105;167;209	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	L	167;209;139;139;105	ENSP00000332757:F167L;ENSP00000430428:F139L;ENSP00000429870:F139L;ENSP00000334997:F105L	ENSP00000332757:F167L	F	-	3	2	FUT10	33366734	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	1.636000	0.37144	0.559000	0.29153	-0.260000	0.10688	TTC	FUT10	-	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	ENSG00000172728		0.458	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT10	HGNC	protein_coding	OTTHUMT00000376540.1	-	0	97	0	G	NM_032664		33247192	-1	tier1	-	no_errors	ENST00000327671	ensembl	human	known	74_37	missense	8.97	71	7	SNP	1.000	T	T	33247192	G	T	33247192	3	4	181	1	0	0	0	0	1	0	0	0	6126	1281	45	3	946	3	FUT10	8	33247192	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	11197573	33247192	113116830	107	45007											
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37732209	37732209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctcagatcttctcacaagGtcttcagcaggccccgatgc	8	11	8	14	1	5	1	3	0	4	1	7	2	5	1	2	2	2	1	2	2	1	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:37732209G>T	ENST00000330843.4	-	3	1458	c.1446C>A	c.(1444-1446)gaC>gaA	p.D482E	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.D334E|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.D334E|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.D482E	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	482				D -> G (in Ref. 2; AAQ18788). {ECO:0000305}.	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)			TTCTCACAAGGTCTTCAGCAG	0.557																																																	0													131	132	132					8																	37732209		2203	4300	6503	SO:0001583	missense	0			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.1446C>A	8.37:g.37732209G>T	ENSP00000331342:p.Asp482Glu		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.D482E	ENST00000330843.4	37	c.1446	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	7.916	0.737441	0.15574	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.30182	2.29;2.69;1.56;1.54	4.62	-0.715	0.11215	.	0.748628	0.12360	N	0.475760	T	0.15696	0.0378	L	0.33485	1.01	0.09310	N	1	B;B;B;B	0.10296	0.001;0.001;0.0;0.003	B;B;B;B	0.09377	0.002;0.004;0.002;0.004	T	0.29701	-1.0003	10	0.14252	T	0.57	.	1.5802	0.02633	0.362:0.133:0.3702:0.1348	.	334;334;482;482	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	E	482;482;334;334	ENSP00000287263:D482E;ENSP00000331342:D482E;ENSP00000430009:D334E;ENSP00000430680:D334E	ENSP00000287263:D482E	D	-	3	2	RAB11FIP1	37851367	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.109000	0.15417	-0.202000	0.10268	-0.152000	0.13540	GAC	RAB11FIP1	-	NULL	ENSG00000156675		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	-	0	69	0	G	NM_025151		37732209	-1	tier1	-	no_errors	ENST00000330843	ensembl	human	known	74_37	missense	10.47	77	9	SNP	0.000	T	T	37732209	G	T	37732209	3	4	181	1	0	0	0	0	1	0	0	0	12938	1252	44	3	2421	3	RAB11FIP1	8	37732209	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	4485017	37732209	108631813	108	45008											
PRKDC	5591	genome.wustl.edu	37	chr8	48827892	48827892	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaaagaagtttacctgtCagaagatttttgtttatttg	12	19	7	3	0	1	3	1	0	0	3	1	3	1	3	1	0	1	2	1	0	6	9			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:48827892C>G	ENST00000314191.2	-	23	2669	c.2613G>C	c.(2611-2613)ctG>ctC	p.L871L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L871L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	871					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTTTACCTGTCAGAAGATTTT	0.294								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													70	61	64					8																	48827892		1781	4051	5832	SO:0001819	synonymous_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2613G>C	8.37:g.48827892C>G			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L871	ENST00000314191.2	37	c.2613		8																																																																																			PRKDC	-	NULL	ENSG00000253729		0.294	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	73	0	C	NM_001081640		48827892	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.308	G	G	48827892	C	G	48827892	2	3	181	1	0	0	0	0	0	0	0	1	12563	813	29	5		5	PRKDC	8	48827892	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	11095683	48827892	97536130	109	45009											
PSKH2	85481	genome.wustl.edu	37	chr8	87076243	87076243	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	gaatcttcctgtaaagccttGtctggctttcatcatcaaaa	11	14	6	10	0	5	0	3	0	2	0	6	1	6	0	2	1	1	2	2	1	5	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:87076243G>C	ENST00000276616.2	-	2	877	c.803C>G	c.(802-804)aCa>aGa	p.T268R	PSKH2_ENST00000517981.1_5'Flank	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GTAAAGCCTTGTCTGGCTTTC	0.408																																																	0													69	70	70					8																	87076243		2203	4300	6503	SO:0001583	missense	0			AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.803C>G	8.37:g.87076243G>C	ENSP00000276616:p.Thr268Arg		A0AV22	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T268R	ENST00000276616.2	37	c.803	CCDS6240.1	8	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822168	0.32237	.	.	ENSG00000147613	ENST00000276616	T	0.64085	-0.08	4.98	1.6	0.23607	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	0.49287	0.1548	N	0.17838	0.53	0.23430	N	0.997695	P	0.38335	0.627	P	0.44422	0.449	T	0.36456	-0.9747	9	0.25106	T	0.35	.	8.9243	0.35630	0.319:0.0:0.681:0.0	.	268	Q96QS6	KPSH2_HUMAN	R	268	ENSP00000276616:T268R	ENSP00000276616:T268R	T	-	2	0	PSKH2	87145359	0.955000	0.32602	0.045000	0.18777	0.799000	0.45148	2.121000	0.41977	0.462000	0.27095	0.655000	0.94253	ACA	PSKH2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000147613		0.408	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSKH2	HGNC	protein_coding	OTTHUMT00000374628.1	-	0	82	0	G	NM_033126		87076243	-1	tier1	-	no_errors	ENST00000276616	ensembl	human	known	74_37	missense	7.07	92	7	SNP	0.742	C	C	87076243	G	C	87076243	3	2	181	1	0	0	0	0	1	0	0	0	12707	1377	48	5	360	5	PSKH2	8	87076243	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	38248351	87076243	59287779	110	45010											
RIMS2	9699	genome.wustl.edu	37	chr8	105260958	105260958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctggtgttcgcttggcctCtgatagccagttcagtgatt	5	14	11	11	1	2	2	1	2	1	0	3	2	2	2	3	2	1	3	3	2	1	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:105260958C>G	ENST00000436393.2	+	25	3801	c.3560C>G	c.(3559-3561)tCt>tGt	p.S1187C	RIMS2_ENST00000406091.3_Missense_Mutation_p.S1169C|RIMS2_ENST00000262231.10_Missense_Mutation_p.S1008C|RIMS2_ENST00000507740.1_Missense_Mutation_p.S983C|RIMS2_ENST00000339750.2_Missense_Mutation_p.S105C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1231					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)			CGCTTGGCCTCTGATAGCCAG	0.468										HNSCC(12;0.0054)																																							0													113	112	112					8																	105260958		2127	4265	6392	SO:0001583	missense	0			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.3560C>G	8.37:g.105260958C>G	ENSP00000390665:p.Ser1187Cys		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.S1169C	ENST00000436393.2	37	c.3506		8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146496	0.77888	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.19938	2.64;2.34;2.33;2.21;2.61;2.12;2.11	5.34	5.34	0.76211	.	.	.	.	.	T	0.27697	0.0681	L	0.29908	0.895	0.58432	D	0.999996	B;P;P;P;P	0.48407	0.41;0.8;0.514;0.8;0.91	B;P;B;B;B	0.49708	0.204;0.62;0.351;0.421;0.421	T	0.01805	-1.1270	9	0.87932	D	0	.	19.4079	0.94655	0.0:1.0:0.0:0.0	.	1231;1187;1008;983;1169	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	1206;1169;1231;1008;983;1176;1187;105;105	ENSP00000384892:S1169C;ENSP00000262231:S1008C;ENSP00000423559:S983C;ENSP00000386228:S1176C;ENSP00000390665:S1187C;ENSP00000428478:S105C;ENSP00000342051:S105C	ENSP00000262231:S1008C	S	+	2	0	RIMS2	105330134	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.959000	0.70339	2.664000	0.90586	0.650000	0.86243	TCT	RIMS2	-	NULL	ENSG00000176406		0.468	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	65	0	C	NM_001100117		105260958	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	15.96	79	15	SNP	1.000	G	G	105260958	C	G	105260958	3	3	181	1	0	0	0	0	1	0	0	0	13413	913	32	5	3784	5	RIMS2	8	105260958	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	18184715	105260958	41103064	111	45011											
EFR3A	23167	genome.wustl.edu	37	chr8	132982840	132982840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcaacttaaatacaagttCcaaagacaatgatgagaaga	19	9	7	6	0	1	4	1	2	0	3	2	5	2	4	1	0	2	1	1	0	8	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:132982840C>A	ENST00000254624.5	+	10	1334	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	EFR3A_ENST00000334503.4_Missense_Mutation_p.S370Y|EFR3A_ENST00000519656.1_Missense_Mutation_p.S334Y	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	370						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)			AATACAAGTTCCAAAGACAAT	0.368																																																	0													120	119	119					8																	132982840		2203	4300	6503	SO:0001583	missense	0			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.1109C>A	8.37:g.132982840C>A	ENSP00000254624:p.Ser370Tyr		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S370Y	ENST00000254624.5	37	c.1109	CCDS34942.2	8	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684729	0.47991	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.32753	1.44;1.44;1.44	5.56	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.586739	0.18084	N	0.152205	T	0.37156	0.0993	L	0.52573	1.65	0.44508	D	0.997454	B	0.26363	0.147	B	0.38428	0.273	T	0.25257	-1.0137	10	0.59425	D	0.04	-4.2277	13.4661	0.61254	0.0:0.9249:0.0:0.0751	.	370	Q14156	EFR3A_HUMAN	Y	370;370;370;334	ENSP00000254624:S370Y;ENSP00000334769:S370Y;ENSP00000428086:S334Y	ENSP00000254624:S370Y	S	+	2	0	EFR3A	133052022	1.000000	0.71417	0.778000	0.31720	0.799000	0.45148	5.720000	0.68470	1.376000	0.46267	0.585000	0.79938	TCC	EFR3A	-	superfamily_ARM-type_fold	ENSG00000132294		0.368	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	HGNC	protein_coding	OTTHUMT00000318886.1	-	0	79	0	C	NM_015137		132982840	1	tier1	-	no_errors	ENST00000254624	ensembl	human	known	74_37	missense	10.19	141	16	SNP	0.901	A	A	132982840	C	A	132982840	3	1	181	1	0	0	0	0	1	0	0	0	4972	855	30	3	1147	3	EFR3A	8	132982840	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	27721882	132982840	13381182	112	45012											
ZFAT	57623	genome.wustl.edu	37	chr8	135669872	135669872	+	Missense_Mutation	SNP	T	T	A	0	1	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	taaggggaataataatctcaTcaacattaaccccttcttcc	14	12	4	11	0	3	0	2	0	2	0	5	1	4	1	3	2	2	0	3	2	6	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:135669872T>A	ENST00000377838.3	-	2	302	c.128A>T	c.(127-129)gAt>gTt	p.D43V	ZFAT_ENST00000520727.1_Missense_Mutation_p.D31V|ZFAT_ENST00000520356.1_Missense_Mutation_p.D31V|ZFAT_ENST00000429442.2_Missense_Mutation_p.D31V|ZFAT_ENST00000520214.1_Missense_Mutation_p.D31V|ZFAT_ENST00000523399.1_Missense_Mutation_p.D43V	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	43					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)			AATAATCTCATCAACATTAAC	0.493																																																	0													109	103	105					8																	135669872		1870	4110	5980	SO:0001583	missense	0			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.128A>T	8.37:g.135669872T>A	ENSP00000367069:p.Asp43Val		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D43V	ENST00000377838.3	37	c.128	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892965	0.72524	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000518191	T;T;T;T;T;T;T	0.39787	2.45;2.37;2.37;2.37;2.37;2.33;1.06	5.72	5.72	0.89469	.	0.119692	0.53938	D	0.000045	T	0.38746	0.1052	L	0.27053	0.805	0.54753	D	0.999981	P;D;P;D	0.60575	0.895;0.988;0.911;0.966	B;P;P;B	0.51657	0.368;0.676;0.474;0.368	T	0.31971	-0.9924	10	0.62326	D	0.03	-21.8693	8.4956	0.33125	0.0:0.0853:0.0:0.9147	.	43;31;31;43	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	V	31;31;31;43;31;31;43;31;31	ENSP00000427879:D31V;ENSP00000427831:D31V;ENSP00000394501:D31V;ENSP00000367069:D43V;ENSP00000428483:D31V;ENSP00000429091:D43V;ENSP00000428192:D31V	ENSP00000326997:D31V	D	-	2	0	ZFAT	135739054	0.998000	0.40836	0.964000	0.40570	0.992000	0.81027	4.249000	0.58766	2.174000	0.68829	0.533000	0.62120	GAT	ZFAT	-	NULL	ENSG00000066827		0.493	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	-	0	118	0	T	NM_001029939		135669872	-1	tier1	-	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	32.74	76	37	SNP	0.975	A	A	135669872	T	A	135669872	3	1	181	1	0	0	0	0	1	0	0	0	17680	1435	50	5	3663	5	ZFAT	8	135669872	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	2687032	135669872	10694150	113	45013											
TOP1MT	116447	genome.wustl.edu	37	chr8	144403488	144403488	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctggacgtgctccacgcgGagggaacagcagcccacggt	9	4	15	13	4	0	0	0	0	0	0	1	3	1	3	2	4	5	3	2	4	1	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:144403488G>A	ENST00000329245.4	-	8	1063	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	TOP1MT_ENST00000521193.1_Silent_p.L245L|TOP1MT_ENST00000519148.1_Silent_p.L245L|TOP1MT_ENST00000523676.1_Silent_p.L245L	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	343					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCTCCACGCGGAGGGAACAGC	0.607																																																	0													117	98	105					8																	144403488		2202	4300	6502	SO:0001819	synonymous_variant	0			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1029C>T	8.37:g.144403488G>A			B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.L343	ENST00000329245.4	37	c.1029	CCDS6400.1	8																																																																																			TOP1MT	-	pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	ENSG00000184428		0.607	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1MT	HGNC	protein_coding	OTTHUMT00000381247.3	-	0	75	0	G	NM_052963		144403488	-1	tier1	-	no_errors	ENST00000329245	ensembl	human	known	74_37	silent	27.96	67	26	SNP	0.735	A	A	144403488	G	A	144403488	2	1	181	1	0	0	0	0	0	0	0	1	16412	1161	41	3		3	TOP1MT	8	144403488	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	8733616	144403488	1960534	114	45014											
SMARCA2	6595	genome.wustl.edu	37	chr9	2161902	2161902	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgataaactacaaagatAggtgagtgtttggttccttc	11	14	10	6	0	0	3	0	2	0	1	2	3	1	3	1	2	2	2	1	2	5	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:2161902A>G	ENST00000382203.1	+	28	4407	c.4198A>G	c.(4198-4200)Agg>Ggg	p.R1400G	SMARCA2_ENST00000357248.2_Splice_Site_p.S1400G|SMARCA2_ENST00000382185.1_Splice_Site_p.S64G|SMARCA2_ENST00000382186.1_Splice_Site_p.R64G|RNU2-25P_ENST00000411041.1_RNA|SMARCA2_ENST00000349721.2_Splice_Site_p.R1400G|SMARCA2_ENST00000324954.5_Splice_Site_p.S64G|SMARCA2_ENST00000382194.1_Splice_Site_p.S1400G|SMARCA2_ENST00000302401.3_Splice_Site_p.S106G			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1400				R -> S (in Ref. 1; CAA51407). {ECO:0000305}.	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)		CTACAAAGATAGGTGAGTGTT	0.488																																																	0													47	44	45					9																	2161902		2203	4300	6503	SO:0001630	splice_region_variant	0			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.4199+1A>G	9.37:g.2161902A>G			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R1400G	ENST00000382203.1	37	c.4198	CCDS34977.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.37|13.37	2.216027|2.216027	0.39201|0.39201	.|.	.|.	ENSG00000080503|ENSG00000080503	ENST00000349721;ENST00000382203;ENST00000452193;ENST00000382186|ENST00000357248;ENST00000382194;ENST00000302401;ENST00000324954;ENST00000423555;ENST00000417599;ENST00000382185;ENST00000382183;ENST00000416751	T;T;T;T|T;T;T;T;T;T;T;T;T	0.32753|0.30448	1.44;1.44;1.44;1.44|1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.1|5.1	5.1|5.1	0.69264|0.69264	Bromodomain (3);|.	0.153741|.	0.44285|.	D|.	0.000469|.	T|T	0.12732|0.12732	0.0309|0.0309	N|N	0.01352|0.01352	-0.895|-0.895	0.48087|0.48087	D|D	0.999587|0.999587	P|B;B;B	0.34662|0.12013	0.462|0.005;0.005;0.0	B|B;B;B	0.32762|0.13407	0.152|0.009;0.009;0.0	T|T	0.12785|0.12785	-1.0534|-1.0534	9|9	.|0.26408	.|T	.|0.33	-15.9111|-15.9111	14.8818|14.8818	0.70540|0.70540	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1400|104;106;1400	P51531|B4DNT1;B1ALF6;P51531-2	SMCA2_HUMAN|.;.;.	G|G	1400;1400;64;64|1400;1400;106;64;104;104;64;64;64	ENSP00000265773:R1400G;ENSP00000371638:R1400G;ENSP00000401096:R64G;ENSP00000371621:R64G|ENSP00000349788:S1400G;ENSP00000371629:S1400G;ENSP00000305411:S106G;ENSP00000324770:S64G;ENSP00000413057:S104G;ENSP00000387486:S104G;ENSP00000371620:S64G;ENSP00000371618:S64G;ENSP00000412242:S64G	.|ENSP00000305411:S106G	R|S	+|+	1|1	2|0	SMARCA2|SMARCA2	2151902|2151902	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.746000|0.746000	0.42486|0.42486	5.843000|5.843000	0.69424|0.69424	1.923000|1.923000	0.55706|0.55706	0.397000|0.397000	0.26171|0.26171	AGG|AGT	SMARCA2	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000080503		0.488	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	-	0	61	0	A	NM_003070	Missense_Mutation	2161902	1	tier1	-	no_errors	ENST00000349721	ensembl	human	known	74_37	missense	20.34	47	12	SNP	1.000	G	G	2161902	A	G	2161902	5	3	181	1	0	0	0	0	0	0	1	0	14814	434	15	4	4304	4	SMARCA2	9	2161902	Splice_Site	SNP	A	TCGA-Z6-A8JD-01A-11D-A36J-09		2161902	139051529	115	45015											
KIAA2026	158358	genome.wustl.edu	37	chr9	5922121	5922121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggttggtctgtacttttAcaactccagtgttcccacct	6	15	8	12	0	1	0	0	0	1	0	3	0	3	0	3	2	3	3	3	2	3	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:5922121A>G	ENST00000399933.3	-	8	3874	c.3875T>C	c.(3874-3876)gTa>gCa	p.V1292A	KIAA2026_ENST00000381461.2_Missense_Mutation_p.V1262A	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1292										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTGTACTTTTACAACTCCAGT	0.423																																																	0													142	136	138					9																	5922121		1894	4119	6013	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3875T>C	9.37:g.5922121A>G	ENSP00000382815:p.Val1292Ala		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.V1292A	ENST00000399933.3	37	c.3875		9	.	.	.	.	.	.	.	.	.	.	A	17.47	3.396573	0.62177	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.65	4.65	0.58169	.	0.000000	0.50627	D	0.000108	T	0.64394	0.2594	L	0.29908	0.895	0.40212	D	0.977634	D	0.89917	1.0	D	0.83275	0.996	T	0.65183	-0.6230	9	0.38643	T	0.18	-7.8888	14.232	0.65898	1.0:0.0:0.0:0.0	.	1292	Q5HYC2	K2026_HUMAN	A	1292;1262	.	ENSP00000370870:V1262A	V	-	2	0	KIAA2026	5912121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.687000	0.91255	1.966000	0.57179	0.454000	0.30748	GTA	KIAA2026	-	NULL	ENSG00000183354		0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	-	0	50	0	A	NM_001017969		5922121	-1	tier1	-	no_errors	ENST00000399933	ensembl	human	novel	74_37	missense	5.56	68	4	SNP	1.000	G	G	5922121	A	G	5922121	3	3	181	1	0	0	0	0	1	0	0	0	8297	391	14	4	2440	4	KIAA2026	9	5922121	Missense_Mutation	SNP	A	TCGA-Z6-A8JD-01A-11D-A36J-09	3760219	5922121	135291310	116	45016											
TEK	7010	genome.wustl.edu	37	chr9	27212803	27212803	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	cggacccagcatttgccattGccaatagcaccgcgtccaca	10	7	8	16	3	0	0	0	0	0	0	1	1	1	1	5	1	4	2	5	1	2	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:27212803G>A	ENST00000380036.4	+	17	3227	c.2785G>A	c.(2785-2787)Gcc>Acc	p.A929T	TEK_ENST00000519097.1_Missense_Mutation_p.A781T|TEK_ENST00000406359.4_Missense_Mutation_p.A886T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	929	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ATTTGCCATTGCCAATAGCAC	0.582																																																	0													98	77	84					9																	27212803		2203	4300	6503	SO:0001583	missense	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2785G>A	9.37:g.27212803G>A	ENSP00000369375:p.Ala929Thr		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A929T	ENST00000380036.4	37	c.2785	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078393	0.76528	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.69040	-0.37;-0.37;-0.37	5.46	4.54	0.55810	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000101	T	0.67477	0.2897	N	0.11313	0.125	0.58432	D	0.999997	P;P;D	0.89917	0.811;0.944;1.0	B;P;D	0.81914	0.316;0.554;0.995	T	0.73566	-0.3942	10	0.49607	T	0.09	.	16.3432	0.83101	0.0:0.1323:0.8676:0.0	.	781;962;929	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	T	781;929;886	ENSP00000430686:A781T;ENSP00000369375:A929T;ENSP00000383977:A886T	ENSP00000369375:A929T	A	+	1	0	TEK	27202803	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	9.738000	0.98835	1.399000	0.46721	0.655000	0.94253	GCC	TEK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000120156		0.582	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	-	0	59	0	G			27212803	1	tier1	-	no_errors	ENST00000380036	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	27212803	G	A	27212803	3	1	181	1	0	0	0	0	1	0	0	0	15798	1319	46	3	2851	3	TEK	9	27212803	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	21290682	27212803	114000628	117	45017											
ASTN2	23245	genome.wustl.edu	37	chr9	119976864	119976864	+	Missense_Mutation	SNP	T	T	G	0	1	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	aacggaagctctcccgcgccTggggacccagcagcacagat	10	4	12	15	3	1	1	0	0	1	1	2	3	1	3	3	3	4	3	3	3	2	0	rs146556453		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:119976864T>G	ENST00000313400.4	-	3	888	c.788A>C	c.(787-789)cAg>cCg	p.Q263P	ASTN2_ENST00000361209.2_Missense_Mutation_p.Q263P|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.Q263P			O75129	ASTN2_HUMAN	astrotactin 2	263					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTCCCGCGCCTGGGGACCCAG	0.602																																																	0													81	72	75					9																	119976864		2203	4300	6503	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.788A>C	9.37:g.119976864T>G	ENSP00000314038:p.Gln263Pro		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.Q263P	ENST00000313400.4	37	c.788		9	.	.	.	.	.	.	.	.	.	.	T	14.22	2.470793	0.43942	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.11821	2.79;2.79;2.74	5.51	4.36	0.52297	.	0.078621	0.51477	N	0.000089	T	0.07638	0.0192	N	0.14661	0.345	0.50813	D	0.999891	B;B;P	0.35456	0.002;0.0;0.502	B;B;B	0.31751	0.002;0.0;0.135	T	0.39078	-0.9631	9	.	.	.	-13.0618	11.2967	0.49282	0.0:0.0:0.2912:0.7088	.	263;263;263	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	P	263	ENSP00000314038:Q263P;ENSP00000363108:Q263P;ENSP00000354504:Q263P	.	Q	-	2	0	ASTN2	119016685	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.028000	0.64115	0.913000	0.36797	0.533000	0.62120	CAG	ASTN2	-	NULL	ENSG00000148219		0.602	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		-	0	36	0	T	NM_014010		119976864	-1	tier1	-	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	40.00	21	14	SNP	1.000	G	G	119976864	T	G	119976864	3	3	181	1	0	0	0	0	1	0	0	0	1066	1580	55	4	3390	4	ASTN2	9	119976864	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	92764061	119976864	21236567	118	45018											
CEP110	11064	genome.wustl.edu	37	chr9	123870109	123870109	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagactggaaagagacctaGaaaaaaagatgatagaaact	23	5	9	4	0	0	6	0	1	0	5	0	8	0	7	1	1	1	0	1	1	8	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:123870109G>C	ENST00000373855.1	+	8	1098	c.838G>C	c.(838-840)Gaa>Caa	p.E280Q	CNTRL_ENST00000373865.2_Missense_Mutation_p.E280Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E280Q			Q7Z7A1	CNTRL_HUMAN	centriolin	280					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGAGACCTAGAAAAAAAGAT	0.269																																																	0													31	32	31					9																	123870109		2203	4298	6501	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.838G>C	9.37:g.123870109G>C	ENSP00000362962:p.Glu280Gln		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E280Q	ENST00000373855.1	37	c.838	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213789	0.79352	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.27402	1.67;1.67	5.84	5.84	0.93424	.	.	.	.	.	T	0.53594	0.1806	L	0.58101	1.795	0.40425	D	0.979881	D	0.76494	0.999	D	0.80764	0.994	T	0.46076	-0.9217	9	0.42905	T	0.14	.	18.6974	0.91605	0.0:0.0:1.0:0.0	.	280	Q7Z7A1	CNTRL_HUMAN	Q	280	ENSP00000362962:E280Q;ENSP00000238341:E280Q	ENSP00000238341:E280Q	E	+	1	0	CNTRL	122909930	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.425000	0.80255	2.767000	0.95098	0.591000	0.81541	GAA	CNTRL	-	NULL	ENSG00000119397		0.269	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	-	0	69	0	G	NM_007018		123870109	1	tier1	-	no_errors	ENST00000238341	ensembl	human	known	74_37	missense	10.61	57	7	SNP	1.000	C	C	123870109	G	C	123870109	3	2	181	1	0	0	0	0	1	0	0	0	3252	943	33	5	860	5	CEP110	9	123870109	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	3893245	123870109	17343322	119	45019											
ODF2	4957	genome.wustl.edu	37	chr9	131235307	131235307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccttgaaggataccatcGggaagctgaaaacagtaggt	13	8	13	7	1	0	2	0	2	0	0	1	4	0	4	2	4	3	2	2	4	6	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:131235307G>A	ENST00000434106.3	+	7	1060	c.697G>A	c.(697-699)Ggg>Agg	p.G233R	ODF2_ENST00000604420.1_Missense_Mutation_p.G233R|ODF2_ENST00000535026.1_Missense_Mutation_p.R117Q|ODF2_ENST00000351030.3_Missense_Mutation_p.G228R|ODF2_ENST00000444119.2_Missense_Mutation_p.G209R|ODF2_ENST00000546203.1_Missense_Mutation_p.G214R|ODF2_ENST00000372807.5_Missense_Mutation_p.G228R|ODF2_ENST00000393527.3_Missense_Mutation_p.G209R|ODF2_ENST00000393533.2_Missense_Mutation_p.G233R|ODF2_ENST00000448249.3_Missense_Mutation_p.G152R|ODF2_ENST00000372791.3_Missense_Mutation_p.G214R|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372814.3_Missense_Mutation_p.G277R	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	233					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						GGATACCATCGGGAAGCTGAA	0.612																																																	0													69	57	61					9																	131235307		2203	4300	6503	SO:0001583	missense	0			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.697G>A	9.37:g.131235307G>A	ENSP00000403453:p.Gly233Arg		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	NULL	p.G233R	ENST00000434106.3	37	c.697	CCDS56588.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.63|14.63	2.592625|2.592625	0.46214|0.46214	.|.	.|.	ENSG00000136811|ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000421776;ENST00000444119;ENST00000546203;ENST00000432065;ENST00000372791|ENST00000535026	T;T;T;T;T;T;T;T;T;T|.	0.39997|.	1.05;1.05;1.05;1.05;2.01;1.05;2.01;1.05;1.05;1.05|.	5.69|5.69	4.8|4.8	0.61643|0.61643	.|.	0.518194|.	0.22627|.	N|.	0.057622|.	T|T	0.41305|0.41305	0.1153|0.1153	L|L	0.32530|0.32530	0.975|0.975	0.23249|0.23249	N|N	0.998044|0.998044	B;B;B;B;B;B;B;B;B;B|.	0.33379|.	0.175;0.281;0.055;0.242;0.011;0.027;0.145;0.175;0.281;0.41|.	B;B;B;B;B;B;B;B;B;B|.	0.22386|.	0.026;0.039;0.011;0.028;0.006;0.01;0.016;0.026;0.039;0.039|.	T|T	0.36841|0.36841	-0.9731|-0.9731	10|6	0.29301|0.87932	T|D	0.29|0	-30.2222|-30.2222	11.7471|11.7471	0.51825|0.51825	0.0821:0.0:0.9179:0.0|0.0821:0.0:0.9179:0.0	.|.	214;228;152;167;233;277;228;214;233;209|.	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3|.	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.|.	R|Q	233;277;228;233;209;152;152;209;214;157;214|117	ENSP00000377166:G233R;ENSP00000361901:G277R;ENSP00000342581:G228R;ENSP00000361882:G233R;ENSP00000307781:G209R;ENSP00000396687:G152R;ENSP00000394506:G209R;ENSP00000437579:G214R;ENSP00000407852:G157R;ENSP00000361877:G214R|.	ENSP00000307781:G209R|ENSP00000443178:R117Q	G|R	+|+	1|2	0|0	ODF2|ODF2	130275128|130275128	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.882000|0.882000	0.50991|0.50991	4.703000|4.703000	0.61824|0.61824	1.418000|1.418000	0.47098|0.47098	-0.266000|-0.266000	0.10368|0.10368	GGG|CGG	ODF2	-	NULL	ENSG00000136811		0.612	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	-	0	68	0	G			131235307	1	tier1	-	no_errors	ENST00000434106	ensembl	human	known	74_37	missense	10.45	60	7	SNP	1.000	A	A	131235307	G	A	131235307	3	1	181	1	0	0	0	0	1	0	0	0	10866	1116	39	1	774	1	ODF2	9	131235307	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	7365198	131235307	9978124	120	45020											
UAP1L1	91373	genome.wustl.edu	37	chr9	139973475	139973475	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaggaccacaagatcctgGaggacatggagcgccgggga	11	4	17	9	2	0	1	0	0	0	1	1	7	1	7	3	7	1	0	3	7	1	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:139973475G>T	ENST00000409858.3	+	4	750	c.718G>T	c.(718-720)Gag>Tag	p.E240*	UAP1L1_ENST00000360271.3_Nonsense_Mutation_p.E117*|UAP1L1_ENST00000476184.1_3'UTR	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	240							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)		CAAGATCCTGGAGGACATGGA	0.632																																																	0													98	98	98					9																	139973475		2203	4299	6502	SO:0001587	stop_gained	0			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.718G>T	9.37:g.139973475G>T	ENSP00000386935:p.Glu240*		A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Nonsense_Mutation	SNP	pfam_UDPGP_trans	p.E240*	ENST00000409858.3	37	c.718	CCDS7028.2	9	.	.	.	.	.	.	.	.	.	.	G	36	5.961473	0.97151	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	.	.	.	4.86	3.95	0.45737	.	0.401107	0.27946	N	0.017201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.942	0.29963	0.0853:0.1632:0.7516:0.0	.	.	.	.	X	240;117	.	ENSP00000353409:E117X	E	+	1	0	UAP1L1	139093296	1.000000	0.71417	0.974000	0.42286	0.945000	0.59286	3.226000	0.51254	1.028000	0.39785	0.561000	0.74099	GAG	UAP1L1	-	pfam_UDPGP_trans	ENSG00000197355		0.632	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UAP1L1	HGNC	protein_coding	OTTHUMT00000055216.2	-	0	94	0	G	XM_038063		139973475	1	tier1	-	no_errors	ENST00000409858	ensembl	human	known	74_37	nonsense	26.23	45	16	SNP	1.000	T	T	139973475	G	T	139973475	4	4	181	1	0	0	0	0	0	1	0	0	16875	1175	41	3	732	3	UAP1L1	9	139973475	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	8738168	139973475	1239956	121	45021											
GTPBP4	23560	genome.wustl.edu	37	chr10	1061784	1061784	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	cccgtcctctgtggcccggaGtgggagttgctctcgaactc	4	10	13	14	3	2	0	0	0	2	0	5	3	3	2	3	3	2	2	3	3	1	1	rs201965992		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:1061784G>C	ENST00000360803.4	+	16	1782	c.1700G>C	c.(1699-1701)aGt>aCt	p.S567T	GTPBP4_ENST00000538293.1_Missense_Mutation_p.S451T|GTPBP4_ENST00000545048.1_Missense_Mutation_p.S520T	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	567					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)		GTGGCCCGGAGTGGGAGTTGC	0.517																																																	0													164	148	153					10																	1061784		2203	4300	6503	SO:0001583	missense	0			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.1700G>C	10.37:g.1061784G>C	ENSP00000354040:p.Ser567Thr		B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.S567T	ENST00000360803.4	37	c.1700	CCDS31132.1	10	.	.	.	.	.	.	.	.	.	.	G	9.613	1.131775	0.21041	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.33438	1.42;1.41;1.41	5.67	4.76	0.60689	.	0.077131	0.85682	D	0.000000	T	0.35537	0.0935	L	0.54323	1.7	0.58432	D	0.999999	P	0.47409	0.895	P	0.45071	0.468	T	0.09378	-1.0677	10	0.33940	T	0.23	-14.6902	16.2124	0.82170	0.0:0.0:0.8662:0.1338	.	567	Q9BZE4	NOG1_HUMAN	T	567;451;520	ENSP00000354040:S567T;ENSP00000444277:S451T;ENSP00000445473:S520T	ENSP00000354040:S567T	S	+	2	0	GTPBP4	1051784	1.000000	0.71417	0.893000	0.35052	0.123000	0.20343	6.230000	0.72301	1.386000	0.46466	0.591000	0.81541	AGT	GTPBP4	-	NULL	ENSG00000107937		0.517	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	-	0	161	0	G	NM_012341		1061784	1	tier1	-	no_errors	ENST00000360803	ensembl	human	known	74_37	missense	12.99	134	20	SNP	1.000	C	C	1061784	G	C	1061784	3	2	181	1	0	0	0	0	1	0	0	0	6909	1029	36	5	1762	5	GTPBP4	10	1061784	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09		1061784	134472963	122	45022											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24959283	24959283	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttcatcttcagacagtGatacagtttcactttgttct	9	18	6	8	0	5	2	3	1	2	1	5	2	5	2	0	0	1	3	0	0	1	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:24959283G>T	ENST00000396432.2	-	3	593	c.107C>A	c.(106-108)tCa>tAa	p.S36*		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	35					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						TTCAGACAGTGATACAGTTTC	0.318																																																	0													133	116	121					10																	24959283		2203	4300	6503	SO:0001587	stop_gained	0			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.107C>A	10.37:g.24959283G>T	ENSP00000379709:p.Ser36*		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.S36*	ENST00000396432.2	37	c.107	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	G	37	6.376764	0.97515	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000416305	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0741	0.93151	0.0:0.0:1.0:0.0	.	.	.	.	X	36;35;36;36;25	.	ENSP00000365592:S36X	S	-	2	0	ARHGAP21	24999289	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.959000	0.76031	2.554000	0.86153	0.650000	0.86243	TCA	ARHGAP21	-	NULL	ENSG00000107863		0.318	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	-	0	87	0	G	NM_020824		24959283	-1	tier1	-	no_errors	ENST00000396432	ensembl	human	known	74_37	nonsense	10.75	83	10	SNP	1.000	T	T	24959283	G	T	24959283	4	4	181	1	0	0	0	0	0	1	0	0	871	1294	45	3	5865	3	ARHGAP21	10	24959283	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	23897499	24959283	110575464	123	45023											
GPR158	57512	genome.wustl.edu	37	chr10	25465155	25465155	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaagtggtctccgccttAtctggagtgcgagaacggga	8	10	13	10	3	3	1	1	0	2	1	4	4	3	3	2	3	2	0	2	3	3	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:25465155A>T	ENST00000376351.3	+	1	1165	c.806A>T	c.(805-807)tAt>tTt	p.Y269F	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	269					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						TCTCCGCCTTATCTGGAGTGC	0.652																																																	0													27	29	28					10																	25465155		2201	4299	6500	SO:0001583	missense	0			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.806A>T	10.37:g.25465155A>T	ENSP00000365529:p.Tyr269Phe		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.Y269F	ENST00000376351.3	37	c.806	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792408	0.50102	.	.	ENSG00000151025	ENST00000376351	T	0.66099	-0.19	5.09	3.93	0.45458	.	0.245744	0.34750	N	0.003717	T	0.42063	0.1186	L	0.28344	0.845	0.54753	D	0.999981	B	0.06786	0.001	B	0.10450	0.005	T	0.26189	-1.0110	10	0.02654	T	1	.	10.1128	0.42572	0.7343:0.0:0.0:0.2657	.	269	Q5T848	GP158_HUMAN	F	269	ENSP00000365529:Y269F	ENSP00000365529:Y269F	Y	+	2	0	GPR158	25505161	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.689000	0.61723	0.925000	0.37094	0.533000	0.62120	TAT	GPR158	-	NULL	ENSG00000151025		0.652	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2		0	77	0	A	XM_166110		25465155	1			no_errors	ENST00000376351	ensembl	human	known	74_37	missense	7.81	59	5	SNP	1.000	T	T	25465155	A	T	25465155	3	4	181	1	0	0	0	0	1	0	0	0	6689	449	16	5	808	5	GPR158	10	25465155	Missense_Mutation	SNP	A	TCGA-Z6-A8JD-01A-11D-A36J-09	505872	25465155	110069592	124	45024											
MYO3A	53904	genome.wustl.edu	37	chr10	26482174	26482174	+	Silent	SNP	A	A	C	1	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	ccaaaaatattgagacccccAagacgaccccggaaacccaa	17	3	6	15	2	0	2	0	1	0	2	0	5	0	3	6	1	1	0	6	1	6	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:26482174A>C	ENST00000265944.5	+	32	4645	c.4479A>C	c.(4477-4479)ccA>ccC	p.P1493P	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1493					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						TGAGACCCCCAAGACGACCCC	0.378																																																	0													77	75	75					10																	26482174		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4479A>C	10.37:g.26482174A>C			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.P1493	ENST00000265944.5	37	c.4479	CCDS7148.1	10																																																																																			MYO3A	-	NULL	ENSG00000095777		0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	-	0	144	0	A	NM_017433		26482174	1	tier1	-	no_errors	ENST00000265944	ensembl	human	known	74_37	silent	5.93	127	8	SNP	1.000	C	C	26482174	A	C	26482174	2	2	181	1	0	0	0	0	0	0	0	1	10114	117	5	4		4	MYO3A	10	26482174	Silent	SNP	A	TCGA-Z6-A8JD-01A-11D-A36J-09	1017019	26482174	109052573	125	45025											
AGAP7	653268	genome.wustl.edu	37	chr10	51465318	51465318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggtgcttttcttctttaGgtgtttctttttattggcat	3	24	9	5	0	3	0	0	0	3	0	3	0	3	0	0	3	1	4	0	3	2	11			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:51465318G>T	ENST00000374095.5	-	7	1263	c.1138C>A	c.(1138-1140)Cta>Ata	p.L380I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		380	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.L380I(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TTCTTCTTTAGGTGTTTCTTT	0.527																																																	1	Substitution - Missense(1)	lung(1)											25	32	30					10																	51465318		1772	3791	5563	SO:0001583	missense	0																														ENST00000374095.5:c.1138C>A	10.37:g.51465318G>T	ENSP00000363208:p.Leu380Ile		A6NGH4	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.L380I	ENST00000374095.5	37	c.1138	CCDS41524.1	10	.	.	.	.	.	.	.	.	.	.	.	9.166	1.020019	0.19433	.	.	ENSG00000204169	ENST00000374095	T	0.75589	-0.95	.	.	.	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.287711	0.32120	N	0.006551	T	0.66771	0.2823	L	0.39898	1.24	0.22656	N	0.998887	P	0.43973	0.823	P	0.48063	0.565	T	0.58864	-0.7561	9	0.56958	D	0.05	.	5.9763	0.19382	6.0E-4:0.0:0.9994:0.0	.	380	Q5VUJ5	AGAP7_HUMAN	I	380	ENSP00000363208:L380I	ENSP00000363208:L380I	L	-	1	2	AGAP7	51135324	0.989000	0.36119	0.022000	0.16811	0.022000	0.10575	1.540000	0.36115	0.172000	0.19760	0.175000	0.17021	CTA	AGAP7	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000204169		0.527	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	AGAP7	HGNC	protein_coding	OTTHUMT00000048033.1	-	0	243	0	G			51465318	-1	tier1	-	no_errors	ENST00000374095	ensembl	human	known	74_37	missense	19.74	244	60	SNP	1.000	T	T	51465318	G	T	51465318	3	4	181	1	0	0	0	0	1	0	0	0	373	991	35	3	857	3	AGAP7	10	51465318	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	24983144	51465318	84069429	126	45026											
IDE	3416	genome.wustl.edu	37	chr10	94274755	94274755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtagctcttgtcttacatCaatgccttcttggtttggtc	6	17	8	10	0	4	0	1	0	3	0	5	0	4	0	1	2	3	3	1	2	3	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:94274755C>G	ENST00000265986.6	-	5	762	c.706G>C	c.(706-708)Gat>Cat	p.D236H		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	236					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)"	TGTCTTACATCAATGCCTTCT	0.358																																																	0													186	192	190					10																	94274755		2203	4300	6503	SO:0001583	missense	0			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.706G>C	10.37:g.94274755C>G	ENSP00000265986:p.Asp236His		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.D236H	ENST00000265986.6	37	c.706	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909985	0.92107	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T	0.38077	1.16	6.06	6.06	0.98353	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.77616	2.38	0.80722	D	1	D	0.63046	0.992	P	0.59889	0.865	T	0.62746	-0.6789	10	0.87932	D	0	-23.897	20.6208	0.99490	0.0:1.0:0.0:0.0	.	236	P14735	IDE_HUMAN	H	236;222	ENSP00000265986:D236H	ENSP00000265986:D236H	D	-	1	0	IDE	94264735	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.768000	0.85345	2.882000	0.98803	0.655000	0.94253	GAT	IDE	-	superfamily_Metalloenz_LuxS/M16	ENSG00000119912		0.358	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	-	0	93	0	C	NM_004969		94274755	-1	tier1	-	no_errors	ENST00000265986	ensembl	human	known	74_37	missense	12.80	109	16	SNP	1.000	G	G	94274755	C	G	94274755	3	3	181	1	0	0	0	0	1	0	0	0	7520	826	29	5	2437	5	IDE	10	94274755	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	42809437	94274755	41259992	127	45027											
SEC23IP	11196	genome.wustl.edu	37	chr10	121685688	121685688	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacttccagttggtgcttgCgtgtcttctgtgtgtgtgaa	6	16	12	7	1	2	1	0	1	2	0	3	1	3	1	1	1	3	2	1	1	2	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:121685688C>T	ENST00000369075.3	+	13	2334	c.2262C>T	c.(2260-2262)tgC>tgT	p.C754C	SEC23IP_ENST00000543134.1_Silent_p.C543C	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	754					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)		TTGGTGCTTGCGTGTCTTCTG	0.448																																																	0													173	164	167					10																	121685688		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2262C>T	10.37:g.121685688C>T			D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD	p.C754	ENST00000369075.3	37	c.2262	CCDS7618.1	10																																																																																			SEC23IP	-	NULL	ENSG00000107651		0.448	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	HGNC	protein_coding	OTTHUMT00000050688.1	-	0	77	0	C			121685688	1	tier1	-	no_errors	ENST00000369075	ensembl	human	known	74_37	silent	10.32	113	13	SNP	0.000	T	T	121685688	C	T	121685688	2	4	181	1	0	0	0	0	0	0	0	1	14038	776	27	1		1	SEC23IP	10	121685688	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	27410933	121685688	13849059	128	45028											
ATE1	11101	genome.wustl.edu	37	chr10	123659471	123659471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactccagaagtgtggctttGaactgcgaacttggtggaga	10	10	14	7	1	0	3	0	1	0	2	1	6	1	3	1	3	3	1	1	3	3	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:123659471G>C	ENST00000224652.6	-	7	937	c.852C>G	c.(850-852)ttC>ttG	p.F284L	ATE1_ENST00000369040.3_Intron|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000369043.3_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000543447.1_Missense_Mutation_p.F169L	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	284					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)				GTGTGGCTTTGAACTGCGAAC	0.428																																																	0													131	120	123					10																	123659471		2203	4300	6503	SO:0001583	missense	0			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.852C>G	10.37:g.123659471G>C	ENSP00000224652:p.Phe284Leu		O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk	p.F284L	ENST00000224652.6	37	c.852	CCDS31300.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.219374|5.219374	0.95139|0.95139	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000224652;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	T|T	0.81555|0.81555	0.4847|0.4847	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70935|.	0.971|.	T|T	0.80703|0.80703	-0.1264|-0.1264	8|5	0.45353|.	T|.	0.12|.	.|.	19.9813|19.9813	0.97326|0.97326	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	284|.	O95260|.	ATE1_HUMAN|.	L|E	284;169|281	.|.	ENSP00000224652:F284L|.	F|Q	-|-	3|1	2|0	ATE1|ATE1	123649461|123649461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.827000|9.827000	0.99397|0.99397	2.726000|2.726000	0.93360|0.93360	0.655000|0.655000	0.94253|0.94253	TTC|CAA	ATE1	-	pirsf_Arg-tRNA-P_Trfase_1_euk	ENSG00000107669		0.428	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATE1	HGNC	protein_coding		-	0	46	0	G	NM_001001976		123659471	-1	tier1	-	no_errors	ENST00000224652	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	C	C	123659471	G	C	123659471	3	2	181	1	0	0	0	0	1	0	0	0	1079	1281	45	5	861	5	ATE1	10	123659471	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	1973783	123659471	11875276	129	45029											
OR10A6	390093	genome.wustl.edu	37	chr11	7949268	7949268	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggcttctcaacacagtcaGattgtgtgtaaaaccactcg	12	11	8	10	1	2	1	2	0	1	1	4	1	2	1	1	1	2	2	1	1	3	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:7949268G>C	ENST00000309838.2	-	1	941	c.942C>G	c.(940-942)atC>atG	p.I314M		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	314						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)		AACACAGTCAGATTGTGTGTA	0.363																																																	0													114	102	106					11																	7949268		2201	4296	6497	SO:0001583	missense	0			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.942C>G	11.37:g.7949268G>C	ENSP00000312470:p.Ile314Met		Q6IF59	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I314M	ENST00000309838.2	37	c.942	CCDS31420.1	11	.	.	.	.	.	.	.	.	.	.	G	0.947	-0.707629	0.03230	.	.	ENSG00000175393	ENST00000309838	T	0.06371	3.31	4.4	-2.43	0.06522	.	1.216660	0.06244	N	0.691017	T	0.03263	0.0095	N	0.14661	0.345	0.09310	N	0.999999	B	0.25169	0.119	B	0.15870	0.014	T	0.43065	-0.9414	10	0.66056	D	0.02	.	1.0849	0.01650	0.2575:0.2823:0.3159:0.1444	.	314	Q8NH74	O10A6_HUMAN	M	314	ENSP00000312470:I314M	ENSP00000312470:I314M	I	-	3	3	OR10A6	7905844	0.011000	0.17503	0.024000	0.17045	0.021000	0.10359	-0.055000	0.11807	-0.589000	0.05874	-0.165000	0.13383	ATC	OR10A6	-	NULL	ENSG00000175393		0.363	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A6	HGNC	protein_coding	OTTHUMT00000385703.1	-	0	63	0	G	NM_001004461		7949268	-1	tier1	-	no_errors	ENST00000309838	ensembl	human	known	74_37	missense	23.81	48	15	SNP	0.047	C	C	7949268	G	C	7949268	3	2	181	1	0	0	0	0	1	0	0	0	10933	932	33	5	5	5	OR10A6	11	7949268	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09		7949268	127057248	130	45030											
SCUBE2	57758	genome.wustl.edu	37	chr11	9068959	9068959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggactctgcctggcgttcaGatgttctgggaggcttttta	6	14	13	8	1	3	1	1	0	2	1	3	3	3	3	1	4	1	3	1	4	1	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:9068959G>C	ENST00000309263.3	-	15	1931	c.1859C>G	c.(1858-1860)tCt>tGt	p.S620C	SCUBE2_ENST00000520467.1_Missense_Mutation_p.S649C|SCUBE2_ENST00000457346.2_Missense_Mutation_p.S649C|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.S494C			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	620						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTGGCGTTCAGATGTTCTGGG	0.562																																																	0													90	83	86					11																	9068959		2201	4296	6497	SO:0001583	missense	0			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1859C>G	11.37:g.9068959G>C	ENSP00000310658:p.Ser620Cys		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.S649C	ENST00000309263.3	37	c.1946		11	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024351	0.54683	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;D;D	0.84730	-1.33;-1.41;-1.89;-1.52	5.37	5.37	0.77165	.	0.232105	0.45361	D	0.000379	D	0.84831	0.5559	L	0.34521	1.04	0.21416	N	0.999698	D;B;P	0.67145	0.996;0.012;0.667	P;B;B	0.56216	0.794;0.038;0.375	T	0.77851	-0.2434	10	0.40728	T	0.16	.	13.4133	0.60954	0.0752:0.0:0.9248:0.0	.	494;649;620	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	C	649;620;494;649	ENSP00000390481:S649C;ENSP00000310658:S620C;ENSP00000415187:S494C;ENSP00000429969:S649C	ENSP00000310658:S620C	S	-	2	0	SCUBE2	9025535	0.148000	0.22702	0.164000	0.22755	0.930000	0.56654	2.772000	0.47678	2.516000	0.84829	0.655000	0.94253	TCT	SCUBE2	-	NULL	ENSG00000175356		0.562	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	-	0	70	0	G	NM_020974		9068959	-1	tier1	-	no_errors	ENST00000457346	ensembl	human	known	74_37	missense	19.18	59	14	SNP	0.151	C	C	9068959	G	C	9068959	3	2	181	1	0	0	0	0	1	0	0	0	13990	942	33	5	1172	5	SCUBE2	11	9068959	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	1119691	9068959	125937557	131	45031											
SWAP70	23075	genome.wustl.edu	37	chr11	9759811	9759811	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggaaaagaaacgccttCagactcaagtggaacttcag	17	6	10	8	1	3	3	3	0	0	3	3	5	3	5	1	2	2	0	1	2	6	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:9759811C>T	ENST00000318950.6	+	8	1235	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*	SWAP70_ENST00000447399.2_Nonsense_Mutation_p.Q320*	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	378					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)		GAAACGCCTTCAGACTCAAGT	0.493																																																	0													69	66	67					11																	9759811		2201	4294	6495	SO:0001587	stop_gained	0			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.1132C>T	11.37:g.9759811C>T	ENSP00000315630:p.Gln378*		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology	p.Q378*	ENST00000318950.6	37	c.1132	CCDS31426.1	11	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491676	0.84962	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	.	.	.	5.27	4.35	0.52113	.	0.222267	0.48286	D	0.000186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-17.6036	13.519	0.61557	0.0:0.7011:0.2989:0.0	.	.	.	.	X	320;378	.	ENSP00000315630:Q378X	Q	+	1	0	SWAP70	9716387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.250000	0.32850	1.326000	0.45319	0.585000	0.79938	CAG	SWAP70	-	NULL	ENSG00000133789		0.493	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWAP70	HGNC	protein_coding	OTTHUMT00000386766.2	-	0	38	0	C	NM_015055		9759811	1	tier1	-	no_errors	ENST00000318950	ensembl	human	known	74_37	nonsense	28.57	20	8	SNP	1.000	T	T	9759811	C	T	9759811	4	4	181	1	0	0	0	0	0	1	0	0	15472	827	29	3	1162	3	SWAP70	11	9759811	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	690852	9759811	125246705	132	45032											
LUZP2	338645	genome.wustl.edu	37	chr11	24518816	24518816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcccagcgcactacctGctgcctctcctgcctgcgct	4	10	8	19	2	2	0	1	0	1	0	3	0	2	0	5	0	7	3	5	0	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:24518816G>A	ENST00000336930.6	+	1	93	c.27G>A	c.(25-27)ctG>ctA	p.L9L	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_De_novo_Start_OutOfFrame			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	9						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CGCACTACCTGCTGCCTCTCC	0.647																																																	0													29	29	29					11																	24518816		2202	4300	6502	SO:0001819	synonymous_variant	0			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.27G>A	11.37:g.24518816G>A			A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	NULL	p.L9	ENST00000336930.6	37	c.27	CCDS31446.1	11																																																																																			LUZP2	-	NULL	ENSG00000187398		0.647	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	-	0	41	0	G	NM_001009909		24518816	1	tier1	-	no_errors	ENST00000336930	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	A	A	24518816	G	A	24518816	2	1	181	1	0	0	0	0	0	0	0	1	9122	1306	46	3		3	LUZP2	11	24518816	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	14759005	24518816	110487700	133	45033											
OR8I2	120586	genome.wustl.edu	37	chr11	55861330	55861330	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttgtgacaccacagctCttttagcactctcctgtgta	7	17	6	11	0	2	1	0	1	2	0	3	1	2	1	2	0	2	3	2	0	2	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:55861330C>G	ENST00000302124.2	+	1	578	c.547C>G	c.(547-549)Ctt>Gtt	p.L183V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L183F(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)					CACCACAGCTCTTTTAGCACT	0.438																																																	1	Substitution - Missense(1)	skin(1)											152	141	145					11																	55861330		2201	4296	6497	SO:0001583	missense	0			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.547C>G	11.37:g.55861330C>G	ENSP00000303864:p.Leu183Val		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L183V	ENST00000302124.2	37	c.547	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	C	3.559	-0.090045	0.07053	.	.	ENSG00000172154	ENST00000302124	T	0.00076	8.76	4.33	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35739	U	0.003003	T	0.00109	0.0003	L	0.31207	0.915	0.09310	N	1	P	0.37708	0.606	B	0.35859	0.212	T	0.42050	-0.9474	10	0.56958	D	0.05	-13.3861	8.563	0.33523	0.2585:0.601:0.1405:0.0	.	183	Q8N0Y5	OR8I2_HUMAN	V	183	ENSP00000303864:L183V	ENSP00000303864:L183V	L	+	1	0	OR8I2	55617906	0.000000	0.05858	0.805000	0.32314	0.087000	0.18053	-0.967000	0.03821	2.115000	0.64714	0.440000	0.28878	CTT	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000172154		0.438	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		-	0	23	0	C	NM_001003750		55861330	1	tier1	-	no_errors	ENST00000302124	ensembl	human	known	74_37	missense	31.82	30	14	SNP	0.014	G	G	55861330	C	G	55861330	3	3	181	1	0	0	0	0	1	0	0	0	11279	913	32	5	549	5	OR8I2	11	55861330	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	31342514	55861330	79145186	134	45034											
DAGLA	747	genome.wustl.edu	37	chr11	61496471	61496471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaccaagtacctcgacctCaagaattcagtgagtcagac	15	7	7	12	1	3	3	3	1	0	2	4	4	3	3	3	0	2	1	3	0	5	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:61496471C>T	ENST00000257215.5	+	8	956	c.840C>T	c.(838-840)ctC>ctT	p.L280L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	280					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)		ACCTCGACCTCAAGAATTCAG	0.542																																																	0													234	190	205					11																	61496471		2202	4299	6501	SO:0001819	synonymous_variant	0			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.840C>T	11.37:g.61496471C>T			A7E233|Q6WQJ0	Silent	SNP	pfam_Lipase_3	p.L280	ENST00000257215.5	37	c.840	CCDS31578.1	11																																																																																			DAGLA	-	NULL	ENSG00000134780		0.542	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	-	0	57	0	C	NM_006133		61496471	1	tier1	-	no_errors	ENST00000257215	ensembl	human	known	74_37	silent	33.85	43	22	SNP	0.997	T	T	61496471	C	T	61496471	2	4	181	1	0	0	0	0	0	0	0	1	4235	813	29	3		3	DAGLA	11	61496471	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	5635141	61496471	73510045	135	45035											
ESRRA	2101	genome.wustl.edu	37	chr11	64081786	64081786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacccactgcccttccCgggccccttccctgctgggc	2	8	12	19	1	0	0	0	0	0	0	2	1	2	1	6	4	2	1	6	4	0	2	rs45585533		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:64081786C>T	ENST00000405666.1	+	4	752	c.518C>T	c.(517-519)cCg>cTg	p.P173L	ESRRA_ENST00000000442.6_Missense_Mutation_p.P173L|ESRRA_ENST00000406310.1_Missense_Mutation_p.P173L	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	173					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CTGCCCTTCCCGGGCCCCTTC	0.672																																																	0								C	LEU/PRO	0,3764		0,0,1882	14	21	19		518	4	1	11	dbSNP_127	19	1,8189		0,1,4094	no	missense	ESRRA	NM_004451.3	98	0,1,5976	TT,TC,CC		0.0122,0.0,0.0084	benign	173/424	64081786	1,11953	1882	4095	5977	SO:0001583	missense	0			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"Nuclear hormone receptors"	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.518C>T	11.37:g.64081786C>T	ENSP00000384851:p.Pro173Leu		Q14514	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P173L	ENST00000405666.1	37	c.518	CCDS41667.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.90|18.90	3.722355|3.722355	0.68959|0.68959	0.0|0.0	1.22E-4|1.22E-4	ENSG00000173153|ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000539594;ENST00000405666|ENST00000545035	D;D;D;D|.	0.92595|.	-3.01;-3.07;-1.68;-3.07|.	3.99|3.99	3.99|3.99	0.46301|0.46301	Nuclear hormone receptor, ligand-binding (1);|.	0.192282|.	0.45867|.	D|.	0.000331|.	T|T	0.28566|0.28566	0.0707|0.0707	N|N	0.02345|0.02345	-0.59|-0.59	0.50813|0.50813	D|D	0.999897|0.999897	B;B|.	0.22851|.	0.003;0.076|.	B;B|.	0.08055|.	0.0;0.003|.	T|T	0.15065|0.15065	-1.0450|-1.0450	10|5	0.22706|.	T|.	0.39|.	.|.	11.7985|11.7985	0.52114|0.52114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	173;173|.	P11474-2;P11474|.	.;ERR1_HUMAN|.	L|W	173;173;30;173|11	ENSP00000385971:P173L;ENSP00000000442:P173L;ENSP00000439896:P30L;ENSP00000384851:P173L|.	ENSP00000000442:P173L|.	P|R	+|+	2|1	0|2	ESRRA|ESRRA	63838362|63838362	0.936000|0.936000	0.31750|0.31750	0.975000|0.975000	0.42487|0.42487	0.968000|0.968000	0.65278|0.65278	2.825000|2.825000	0.48096|0.48096	2.232000|2.232000	0.73038|0.73038	0.462000|0.462000	0.41574|0.41574	CCG|CGG	ESRRA	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000173153		0.672	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ESRRA	HGNC	protein_coding	OTTHUMT00000319304.1	-	0	95	0	C	NM_004451		64081786	1	tier1	-	no_errors	ENST00000000442	ensembl	human	known	74_37	missense	12.50	63	9	SNP	0.995	T	T	64081786	C	T	64081786	3	4	181	1	0	0	0	0	1	0	0	0	5276	652	23	1	528	1	ESRRA	11	64081786	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2585315	64081786	70924730	136	45036											
SSSCA1	10534	genome.wustl.edu	37	chr11	65338969	65338969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccagcccccagtacctcgtCcggagcactgtgagggagct	7	6	12	16	2	0	1	0	1	0	0	2	3	1	3	5	2	4	3	5	2	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:65338969C>G	ENST00000309328.3	+	4	426	c.364C>G	c.(364-366)Ccg>Gcg	p.P122A	FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000531405.1_Missense_Mutation_p.P85A|FAM89B_ENST00000449319.2_5'Flank|SSSCA1_ENST00000527920.1_Intron|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000526877.1_3'UTR|FAM89B_ENST00000530349.1_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	122	Pro-rich.				mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						AGTACCTCGTCCGGAGCACTG	0.667																																																	0													59	61	61					11																	65338969		2201	4296	6497	SO:0001583	missense	0			AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"Sjogren's syndrome/scleroderma autoantigen 1"			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.364C>G	11.37:g.65338969C>G	ENSP00000312318:p.Pro122Ala			Missense_Mutation	SNP	pfam_SSSCA1	p.P122A	ENST00000309328.3	37	c.364	CCDS8104.1	11	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531021	0.45073	.	.	ENSG00000173465	ENST00000309328;ENST00000531405;ENST00000533115	T;T	0.51574	0.7;0.71	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	M	0.64997	1.995	0.80722	D	1	P	0.43392	0.805	B	0.38500	0.275	T	0.32955	-0.9887	10	0.21014	T	0.42	-1.0636	13.5309	0.61621	0.0:1.0:0.0:0.0	.	122	O60232	SSA27_HUMAN	A	122;85;116	ENSP00000312318:P122A;ENSP00000435432:P116A	ENSP00000312318:P122A	P	+	1	0	SSSCA1	65095545	0.998000	0.40836	0.557000	0.28306	0.864000	0.49448	6.358000	0.73055	2.564000	0.86499	0.655000	0.94253	CCG	SSSCA1	-	NULL	ENSG00000173465		0.667	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSSCA1	HGNC	protein_coding	OTTHUMT00000389511.1	-	0	49	0	C	NM_006396		65338969	1	tier1	-	no_errors	ENST00000309328	ensembl	human	known	74_37	missense	34.09	29	15	SNP	0.995	G	G	65338969	C	G	65338969	3	3	181	1	0	0	0	0	1	0	0	0	15242	855	30	5	378	5	SSSCA1	11	65338969	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	1257183	65338969	69667547	137	45037											
SSSCA1	10534	genome.wustl.edu	37	chr11	65339076	65339076	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgcacacagacagccctCttgcagaagctgacctgggc	9	6	11	15	0	1	3	0	1	1	2	1	3	1	3	3	1	4	3	3	1	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:65339076C>G	ENST00000309328.3	+	4	533	c.471C>G	c.(469-471)ctC>ctG	p.L157L	FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000531405.1_Silent_p.L120L|FAM89B_ENST00000449319.2_5'Flank|SSSCA1_ENST00000527920.1_Intron|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000526877.1_3'UTR|FAM89B_ENST00000530349.1_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	157					mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						AGACAGCCCTCTTGCAGAAGC	0.617																																																	0													77	62	67					11																	65339076		2201	4297	6498	SO:0001819	synonymous_variant	0			AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"Sjogren's syndrome/scleroderma autoantigen 1"			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.471C>G	11.37:g.65339076C>G				Silent	SNP	pfam_SSSCA1	p.L157	ENST00000309328.3	37	c.471	CCDS8104.1	11																																																																																			SSSCA1	-	NULL	ENSG00000173465		0.617	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSSCA1	HGNC	protein_coding	OTTHUMT00000389511.1	-	0	77	0	C	NM_006396		65339076	1	tier1	-	no_errors	ENST00000309328	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.977	G	G	65339076	C	G	65339076	2	3	181	1	0	0	0	0	0	0	0	1	15242	900	32	5		5	SSSCA1	11	65339076	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	107	65339076	69667440	138	45038											
PPFIA1	8500	genome.wustl.edu	37	chr11	70218320	70218320	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttccatttatgaaaagcaGacactcgcctatggggacat	12	12	8	9	1	0	2	0	1	0	1	2	3	1	3	2	2	1	1	2	2	4	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:70218320G>C	ENST00000253925.7	+	22	3080		c.e22-1		PPFIA1_ENST00000530548.1_Splice_Site|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000389547.3_Splice_Site|AP000487.5_ENST00000530690.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1						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)			ATGAAAAGCAGACACTCGCCT	0.438																																																	0													49	52	51					11																	70218320		2200	4294	6494	SO:0001630	splice_region_variant	0			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.2866-1G>C	11.37:g.70218320G>C			A6NLE3|Q13135|Q14567|Q8N4I2	Splice_Site	SNP	-	e21-1	ENST00000253925.7	37	c.2866-1	CCDS31627.1	11	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591040	0.46214	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8317	0.92143	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPFIA1	69895968	1.000000	0.71417	0.992000	0.48379	0.311000	0.27955	9.572000	0.98179	2.442000	0.82660	0.551000	0.68910	.	PPFIA1	-	-	ENSG00000131626		0.438	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	-	0	66	0	G	NM_003626	Intron	70218320	1	tier1	-	no_errors	ENST00000253925	ensembl	human	known	74_37	splice_site	13.40	84	13	SNP	1.000	C	C	70218320	G	C	70218320	5	2	181	1	0	0	0	0	0	0	1	0	12348	956	33	5	2947	5	PPFIA1	11	70218320	Splice_Site	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	4879244	70218320	64788196	139	45039											
MRE11A	4361	genome.wustl.edu	37	chr11	94153333	94153335	+	In_Frame_Del	DEL	ATC	ATC	-																															gaactagtgttcataaaaggAtcatcatcatcatcctgaaa																										TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	ATC	ATC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:94153333_94153335delATC	ENST00000323929.3	-	20	2305_2307	c.2083_2085delGAT	c.(2083-2085)gatdel	p.D695del	MRE11A_ENST00000323977.3_In_Frame_Del_p.D667del|MRE11A_ENST00000407439.3_In_Frame_Del_p.D698del|MRE11A_ENST00000393241.4_In_Frame_Del_p.D694del	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	695					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)				TCATAAAAGGATCATCATCATCA	0.325								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																								0																																										SO:0001651	inframe_deletion	0	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.2083_2085delGAT	11.37:g.94153342_94153344delATC	ENSP00000325863:p.Asp695del		O43475	In_Frame_Del	DEL	pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.D695in_frame_del	ENST00000323929.3	37	c.2085_2083	CCDS8299.1	11																																																																																			MRE11A	-	pirsf_DNA_repair_Mre11	ENSG00000020922		0.325	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3		0	29	0	ATC	NM_005591		94153335	-1	tier1		no_errors	ENST00000323929	ensembl	human	known	74_37	in_frame_del	5.41	35	2	DEL	0.990:1.000:1.000	-	-	94153335	ATC	-	94153333	7	5	181	1	0	1	0	1	0	0	0	0	9797	330	12	0	45	0	MRE11A	11	94153333	In_Frame_Del	DEL	ATC	TCGA-Z6-A8JD-01A-11D-A36J-09	23935013	94153333	40853183	140	45040											
SESN3	143686	genome.wustl.edu	37	chr11	94906420	94906420	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttccttgggtgatacttCaggtcaaatgccgagttatg	9	15	10	7	1	2	1	2	1	0	0	3	2	3	1	2	2	2	1	2	2	3	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:94906420C>A	ENST00000536441.1	-	10	1814	c.1478G>T	c.(1477-1479)tGa>tTa	p.*493L	RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Nonstop_Mutation_p.*354L	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	0					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GGTGATACTTCAGGTCAAATG	0.353																																																	0													93	81	85					11																	94906420		2201	4298	6499	SO:0001578	stop_lost	0			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1478G>T	11.37:g.94906420C>A			B7Z7P9|Q96AD1	Nonstop_Mutation	SNP	pfam_PA26	p.*493L	ENST00000536441.1	37	c.1478	CCDS8303.1	11	.	.	.	.	.	.	.	.	.	.	C	9.378	1.072259	0.20147	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1117	0.93318	0.0:1.0:0.0:0.0	.	.	.	.	L	493;354	.	.	X	-	2	2	SESN3	94546068	1.000000	0.71417	0.996000	0.52242	0.135000	0.20990	7.190000	0.77755	2.527000	0.85204	0.555000	0.69702	TGA	SESN3	-	NULL	ENSG00000149212		0.353	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN3	HGNC	protein_coding	OTTHUMT00000396475.3	-	0	49	0	C	NM_144665		94906420	-1	tier1	-	no_errors	ENST00000536441	ensembl	human	known	74_37	nonstop	12.24	43	6	SNP	1.000	A	A	94906420	C	A	94906420	4	1	181	1	0	0	0	0	0	0	0	0	14171	837	29	3	4	3	SESN3	11	94906420	Nonstop_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	753087	94906420	40100096	141	45041											
TMEM45B	120224	genome.wustl.edu	37	chr11	129727255	129727255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaacacccgaatgggaccaGaaggatgatgccaacctcat	14	5	11	11	1	1	2	1	1	0	1	1	6	1	5	4	3	3	0	4	3	4	0	rs78733006	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:129727255G>C	ENST00000524567.1	+	5	899	c.618G>C	c.(616-618)caG>caC	p.Q206H	TMEM45B_ENST00000281441.3_Missense_Mutation_p.Q206H			Q96B21	TM45B_HUMAN	transmembrane protein 45B	206						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		AATGGGACCAGAAGGATGATG	0.502																																																	0													262	214	230					11																	129727255		2201	4297	6498	SO:0001583	missense	0			AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.618G>C	11.37:g.129727255G>C	ENSP00000436293:p.Gln206His		A8K2L8	Missense_Mutation	SNP	pfam_DUF716_TMEM45	p.Q206H	ENST00000524567.1	37	c.618	CCDS8482.1	11	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858972	0.51376	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.44083	0.93;0.93	5.91	4.81	0.61882	.	0.177241	0.50627	D	0.000107	T	0.48169	0.1485	M	0.79805	2.47	0.39040	D	0.960103	B	0.29671	0.254	B	0.36335	0.222	T	0.45160	-0.9280	10	0.15066	T	0.55	-32.6748	14.6907	0.69083	0.0822:0.0:0.9178:0.0	.	206	Q96B21	TM45B_HUMAN	H	206	ENSP00000281441:Q206H;ENSP00000436293:Q206H	ENSP00000281441:Q206H	Q	+	3	2	TMEM45B	129232465	0.954000	0.32549	0.988000	0.46212	0.390000	0.30446	1.649000	0.37281	2.793000	0.96121	0.655000	0.94253	CAG	TMEM45B	-	pfam_DUF716_TMEM45	ENSG00000151715		0.502	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TMEM45B	HGNC	protein_coding	OTTHUMT00000386062.1	-	0	61	0	G	NM_138788		129727255	1	tier1	-	no_errors	ENST00000281441	ensembl	human	known	74_37	missense	31.46	59	28	SNP	0.982	C	C	129727255	G	C	129727255	3	2	181	1	0	0	0	0	1	0	0	0	16217	933	33	5	632	5	TMEM45B	11	129727255	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	34820835	129727255	5279261	142	45042											
NTM	50863	genome.wustl.edu	37	chr11	132016295	132016295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgagcaacacccaaaCgcagtacagcatcgagatcc	13	6	7	15	2	1	2	0	1	1	1	3	3	2	2	3	0	5	4	3	0	3	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:132016295C>T	ENST00000374786.1	+	2	766	c.287C>T	c.(286-288)aCg>aTg	p.T96M	NTM_ENST00000427481.2_Missense_Mutation_p.T87M|NTM_ENST00000539799.1_Missense_Mutation_p.T96M|NTM_ENST00000374791.3_Missense_Mutation_p.T96M|NTM_ENST00000374784.1_Missense_Mutation_p.T96M|NTM_ENST00000425719.2_Missense_Mutation_p.T96M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	96	Ig-like C2-type 1.				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						AACACCCAAACGCAGTACAGC	0.577																																																	0													194	135	155					11																	132016295		2201	4297	6498	SO:0001583	missense	0			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.287C>T	11.37:g.132016295C>T	ENSP00000363918:p.Thr96Met		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T96M	ENST00000374786.1	37	c.287	CCDS8491.1	11	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328640	0.60743	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170160	0.52532	D	0.000064	T	0.32164	0.0820	N	0.25201	0.72	0.40809	D	0.983408	D;P;P;P;P;P	0.55172	0.97;0.941;0.686;0.941;0.872;0.686	P;P;P;P;P;P	0.54372	0.75;0.75;0.635;0.75;0.541;0.635	T	0.07443	-1.0772	10	0.62326	D	0.03	-25.1658	10.5623	0.45152	0.0:0.7956:0.1331:0.0713	.	96;87;96;96;96;96	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	M	96;96;87;87;96;96;96	ENSP00000363923:T96M;ENSP00000437668:T96M;ENSP00000448104:T87M;ENSP00000416320:T87M;ENSP00000363918:T96M;ENSP00000396722:T96M;ENSP00000363916:T96M	ENSP00000363916:T96M	T	+	2	0	NTM	131521505	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.300000	0.43620	2.691000	0.91804	0.655000	0.94253	ACG	NTM	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000182667		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	-	0	68	0	C	NM_016522		132016295	1	tier1	-	no_errors	ENST00000539799	ensembl	human	known	74_37	missense	26.25	59	21	SNP	1.000	T	T	132016295	C	T	132016295	3	4	181	1	0	0	0	0	1	0	0	0	10738	536	19	1	379	1	NTM	11	132016295	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2289040	132016295	2990221	143	45043											
NOP2	4839	genome.wustl.edu	37	chr12	6669279	6669279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttacctgtctgggactgagGgatagaattggaaaatttct	11	13	11	6	0	2	2	0	1	2	1	2	5	2	5	1	3	1	0	1	3	5	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:6669279G>A	ENST00000322166.5	-	15	1895	c.1774C>T	c.(1774-1776)Cct>Tct	p.P592S	NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000382421.3_Missense_Mutation_p.P625S|NOP2_ENST00000541778.1_Missense_Mutation_p.P588S|NOP2_ENST00000399466.2_Missense_Mutation_p.P588S|NOP2_ENST00000545200.1_Missense_Mutation_p.P588S|NOP2_ENST00000537442.1_Missense_Mutation_p.P592S	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	592					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TGGGACTGAGGGATAGAATTG	0.468																																																	0													81	82	82					12																	6669279		1876	4123	5999	SO:0001583	missense	0				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1774C>T	12.37:g.6669279G>A	ENSP00000313272:p.Pro592Ser		A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.P592S	ENST00000322166.5	37	c.1774	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834883	0.50951	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.18174	2.23;2.33;2.31;2.24;2.23;2.24	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	L	0.32530	0.975	0.80722	D	1	D;B;B	0.63046	0.992;0.249;0.364	P;B;B	0.60117	0.869;0.183;0.34	T	0.01541	-1.1329	10	0.52906	T	0.07	-24.6826	18.3836	0.90459	0.0:0.0:1.0:0.0	.	588;592;588	Q05BA7;P46087;P46087-2	.;NOP2_HUMAN;.	S	592;625;588;588;592;588	ENSP00000444437:P592S;ENSP00000371858:P625S;ENSP00000439422:P588S;ENSP00000382392:P588S;ENSP00000313272:P592S;ENSP00000443150:P588S	ENSP00000313272:P592S	P	-	1	0	NOP2	6539540	1.000000	0.71417	0.759000	0.31340	0.123000	0.20343	9.397000	0.97276	2.569000	0.86673	0.655000	0.94253	CCT	NOP2	-	NULL	ENSG00000111641		0.468	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	-	0	114	0	G	NM_006170		6669279	-1	tier1	-	no_errors	ENST00000322166	ensembl	human	known	74_37	missense	7.63	108	9	SNP	1.000	A	A	6669279	G	A	6669279	3	1	181	1	0	0	0	0	1	0	0	0	10577	1232	43	3	672	3	NOP2	12	6669279	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09		6669279	127182616	144	45044											
CNTN1	1272	genome.wustl.edu	37	chr12	41408098	41408098	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagagctgaccataacatggGcggtaagtattgatgagttg	12	10	14	5	1	0	4	0	3	0	1	0	5	0	4	1	2	2	4	1	2	3	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:41408098G>C	ENST00000551295.2	+	18	2299	c.2182G>C	c.(2182-2184)Gcg>Ccg	p.A728P	CNTN1_ENST00000347616.1_Missense_Mutation_p.A728P|CNTN1_ENST00000348761.2_Missense_Mutation_p.A717P|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	728	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CATAACATGGGCGGTAAGTAT	0.383																																																	0													154	139	144					12																	41408098		2203	4300	6503	SO:0001583	missense	0			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.2182G>C	12.37:g.41408098G>C	ENSP00000447006:p.Ala728Pro		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A728P	ENST00000551295.2	37	c.2182	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859060	0.51376	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.57436	0.4;0.4;0.4	5.45	5.45	0.79879	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.372699	0.30969	N	0.008508	T	0.38161	0.1030	N	0.14661	0.345	0.80722	D	1	B;B	0.30634	0.244;0.288	B;B	0.36808	0.15;0.233	T	0.32824	-0.9892	10	0.59425	D	0.04	.	9.5498	0.39304	0.0814:0.1466:0.7719:0.0	.	717;728	Q12860-2;Q12860	.;CNTN1_HUMAN	P	728;728;717	ENSP00000447006:A728P;ENSP00000325660:A728P;ENSP00000261160:A717P	ENSP00000325660:A728P	A	+	1	0	CNTN1	39694365	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.391000	0.52530	2.941000	0.99782	0.655000	0.94253	GCG	CNTN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000018236		0.383	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0	95	0	G	NM_001843		41408098	1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	5.74	115	7	SNP	1.000	C	C	41408098	G	C	41408098	3	2	181	1	0	0	0	0	1	0	0	0	3647	1203	42	5	2248	5	CNTN1	12	41408098	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	34738819	41408098	92443797	145	45045											
NELL2	4753	genome.wustl.edu	37	chr12	44913936	44913936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgacacagcgcgggcagCactcattctctgggagaatg	9	8	13	11	2	2	2	1	1	1	1	3	3	2	2	0	2	2	2	0	2	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:44913936C>T	ENST00000429094.2	-	19	2756	c.2252G>A	c.(2251-2253)tGc>tAc	p.C751Y	NELL2_ENST00000437801.2_Missense_Mutation_p.C801Y|NELL2_ENST00000333837.4_Missense_Mutation_p.C774Y|NELL2_ENST00000395487.2_Missense_Mutation_p.C750Y|NELL2_ENST00000551601.1_Missense_Mutation_p.C703Y|NELL2_ENST00000549027.1_Missense_Mutation_p.C750Y|NELL2_ENST00000452445.2_Missense_Mutation_p.C751Y	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	751	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCGCGGGCAGCACTCATTCTC	0.542																																																	0													91	75	81					12																	44913936		2203	4300	6503	SO:0001583	missense	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2252G>A	12.37:g.44913936C>T	ENSP00000390680:p.Cys751Tyr		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.C801Y	ENST00000429094.2	37	c.2402	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507851	0.85282	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.07	5.07	0.68467	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.97611	0.9217	H	0.97587	4.035	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;1.0;0.998;0.999;1.0	D	0.97945	1.0328	10	0.38643	T	0.18	-10.0971	18.4463	0.90685	0.0:1.0:0.0:0.0	.	774;801;703;751;750	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	Y	750;751;703;751;750;774;801	ENSP00000378866:C750Y;ENSP00000390680:C751Y;ENSP00000449332:C703Y;ENSP00000394612:C751Y;ENSP00000447927:C750Y;ENSP00000327988:C774Y;ENSP00000416341:C801Y	ENSP00000327988:C774Y	C	-	2	0	NELL2	43200203	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.814000	0.86154	2.325000	0.78763	0.650000	0.86243	TGC	NELL2	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000184613		0.542	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0	76	0	C	NM_006159		44913936	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	44913936	C	T	44913936	3	4	181	1	0	0	0	0	1	0	0	0	10373	710	25	3	206	3	NELL2	12	44913936	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	3505838	44913936	88937959	146	45046											
PRPH	5630	genome.wustl.edu	37	chr12	49691473	49691473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctaggatctccgtgcccGtccattcttttgcctcctta	4	15	6	16	2	3	0	0	0	3	0	6	1	5	1	6	1	2	0	6	1	2	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:49691473G>A	ENST00000257860.4	+	7	2730	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I	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)		p.V411I(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CTCCGTGCCCGTCCATTCTTT	0.632																																																	1	Substitution - Missense(1)	lung(1)											78	82	81					12																	49691473		2203	4300	6503	SO:0001583	missense	0				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.1231G>A	12.37:g.49691473G>A	ENSP00000257860:p.Val411Ile		Q5TFH5|Q6DK65	Missense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,prints_Keratin_I	p.V411I	ENST00000257860.4	37	c.1231	CCDS8783.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.540|8.540	0.872971|0.872971	0.17322|0.17322	.|.	.|.	ENSG00000135406|ENSG00000135406	ENST00000532332|ENST00000257860	.|D	.|0.83673	.|-1.75	5.33|5.33	0.0835|0.0835	0.14433|0.14433	.|.	.|0.212640	.|0.23604	.|N	.|0.046406	T|T	0.63022|0.63022	0.2476|0.2476	N|N	0.19112|0.19112	0.55|0.55	0.21604|0.21604	N|N	0.999623|0.999623	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.47661|0.47661	-0.9100|-0.9100	5|10	.|0.02654	.|T	.|1	.|.	9.0005|9.0005	0.36079|0.36079	0.5273:0.0:0.4727:0.0|0.5273:0.0:0.4727:0.0	.|.	.|411	.|P41219	.|PERI_HUMAN	H|I	139|411	.|ENSP00000257860:V411I	.|ENSP00000257860:V411I	R|V	+|+	2|1	0|0	PRPH|PRPH	47977740|47977740	0.643000|0.643000	0.27269|0.27269	0.259000|0.259000	0.24435|0.24435	0.339000|0.339000	0.28857|0.28857	0.924000|0.924000	0.28777|0.28777	0.075000|0.075000	0.16796|0.16796	-0.136000|-0.136000	0.14681|0.14681	CGT|GTC	PRPH	-	NULL	ENSG00000135406		0.632	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPH	HGNC	protein_coding	OTTHUMT00000393381.1		0	17	0	G	NM_006262		49691473	1			no_errors	ENST00000257860	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.138	A	A	49691473	G	A	49691473	3	1	181	1	0	0	0	0	1	0	0	0	12618	1145	40	1	1257	1	PRPH	12	49691473	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	4777537	49691473	84160422	147	45047											
KRT81	3887	genome.wustl.edu	37	chr12	52681085	52681085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgctcagactgggccaCcgcggcctccagcttggagt	5	8	13	15	2	1	1	1	0	0	1	2	2	2	2	4	3	3	3	4	3	0	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:52681085C>A	ENST00000327741.5	-	7	1116	c.1048G>T	c.(1048-1050)Gtg>Ttg	p.V350L	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	350	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V350L(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACTGGGCCACCGCGGCCTCC	0.607																																																	1	Substitution - Missense(1)	lung(1)											26	29	28					12																	52681085		2203	4300	6503	SO:0001583	missense	0			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.1048G>T	12.37:g.52681085C>A	ENSP00000369349:p.Val350Leu		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.V350L	ENST00000327741.5	37	c.1048	CCDS31805.1	12	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714119	0.48622	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.87491	-2.26	4.99	4.99	0.66335	Filament (1);	0.000000	0.37669	U	0.001993	T	0.78698	0.4324	N	0.21583	0.68	0.37093	D	0.899528	B	0.31730	0.337	B	0.33690	0.168	T	0.81232	-0.1026	10	0.72032	D	0.01	.	8.8868	0.35409	0.0:0.8247:0.0:0.1753	.	350	Q14533	KRT81_HUMAN	L	350	ENSP00000369349:V350L	ENSP00000369349:V350L	V	-	1	0	KRT81	50967352	0.587000	0.26791	0.703000	0.30354	0.205000	0.24178	1.081000	0.30791	2.303000	0.77524	0.561000	0.74099	GTG	KRT81	-	pfam_IF	ENSG00000205426		0.607	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT81	HGNC	protein_coding	OTTHUMT00000395128.2	-	0	58	0	C	NM_002281		52681085	-1	tier1	-	no_errors	ENST00000327741	ensembl	human	known	74_37	missense	17.19	53	11	SNP	0.952	A	A	52681085	C	A	52681085	3	1	181	1	0	0	0	0	1	0	0	0	8522	507	18	3	481	3	KRT81	12	52681085	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2989612	52681085	81170810	148	45048											
KRT6A	3853	genome.wustl.edu	37	chr12	52884424	52884424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatattgggccttgacctCagcgatgatgctgtccaggt	7	12	11	11	1	2	2	2	2	0	0	3	3	3	2	3	2	2	1	3	2	1	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:52884424C>T	ENST00000330722.6	-	5	1074	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	336	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)		GCCTTGACCTCAGCGATGATG	0.582																																																	0													168	159	162					12																	52884424		2203	4300	6503	SO:0001583	missense	0			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.1006G>A	12.37:g.52884424C>T	ENSP00000369317:p.Glu336Lys		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.E336K	ENST00000330722.6	37	c.1006	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	c	28.7	4.945202	0.92593	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.92199	-2.99	5.47	5.47	0.80525	Filament (1);	0.000000	0.64402	D	0.000011	D	0.97794	0.9276	H	0.97315	3.98	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.98583	1.0651	10	0.72032	D	0.01	.	19.776	0.96393	0.0:1.0:0.0:0.0	.	336	P02538	K2C6A_HUMAN	K	336;292	ENSP00000369317:E336K	ENSP00000369317:E336K	E	-	1	0	KRT6A	51170691	1.000000	0.71417	0.456000	0.27044	0.509000	0.34042	4.806000	0.62569	2.764000	0.94973	0.556000	0.70494	GAG	KRT6A	-	pfam_IF,superfamily_Prefoldin	ENSG00000205420		0.582	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2	-	0	146	0	C	NM_005554		52884424	-1	tier1	-	no_errors	ENST00000330722	ensembl	human	known	74_37	missense	7.24	141	11	SNP	1.000	T	T	52884424	C	T	52884424	3	4	181	1	0	0	0	0	1	0	0	0	8507	835	29	3	708	3	KRT6A	12	52884424	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	203339	52884424	80967471	149	45049											
KIAA0748	9840	genome.wustl.edu	37	chr12	55360994	55360994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccagggtcaagtcatcttCaaagctggtcccatggctgc	8	10	10	13	0	4	0	3	0	1	0	6	0	6	0	2	3	2	2	2	3	2	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:55360994C>T	ENST00000449076.1	-	5	415	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.E95K|TESPA1_ENST00000532804.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	95					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											AAGTCATCTTCAAAGCTGGTC	0.483																																																	0													65	64	65					12																	55360994		1966	4156	6122	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.283G>A	12.37:g.55360994C>T	ENSP00000400892:p.Glu95Lys		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.E95K	ENST00000449076.1	37	c.283	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534096	0.85812	.	.	ENSG00000135426	ENST00000449076;ENST00000316577	T;T	0.60548	0.18;0.18	4.85	4.85	0.62838	.	.	.	.	.	T	0.55289	0.1911	L	0.47190	1.495	0.80722	D	1	P	0.40534	0.72	B	0.41202	0.35	T	0.62539	-0.6833	9	0.87932	D	0	.	15.8382	0.78814	0.0:1.0:0.0:0.0	.	95	A2RU30	K0748_HUMAN	K	95	ENSP00000400892:E95K;ENSP00000312679:E95K	ENSP00000312679:E95K	E	-	1	0	KIAA0748	53647261	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.993000	0.70616	2.415000	0.81967	0.585000	0.79938	GAA	TESPA1	-	NULL	ENSG00000135426		0.483	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1		0	58	0	C	NM_001098815		55360994	-1			no_errors	ENST00000316577	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	55360994	C	T	55360994	3	4	181	1	0	0	0	0	1	0	0	0	8217	835	29	3	1306	3	KIAA0748	12	55360994	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2476570	55360994	78490901	150	45050											
DNAJC14	85406	genome.wustl.edu	37	chr12	56217248	56217248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagctgctcgcaaaaccttGaaggcctcctcagcccgggg	9	6	11	15	2	1	1	1	1	0	0	3	1	2	1	4	3	4	3	4	3	4	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:56217248G>C	ENST00000357606.3	-	4	1741	c.1452C>G	c.(1450-1452)ttC>ttG	p.F484L	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.Q114E|DNAJC14_ENST00000317269.3_Missense_Mutation_p.F484L|DNAJC14_ENST00000317287.5_Missense_Mutation_p.F484L|RP11-762I7.5_ENST00000552719.1_5'Flank			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	484	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						GCAAAACCTTGAAGGCCTCCT	0.443																																																	0													102	93	96					12																	56217248		2203	4300	6503	SO:0001583	missense	0			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.1452C>G	12.37:g.56217248G>C	ENSP00000350223:p.Phe484Leu		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.F484L	ENST00000357606.3	37	c.1452	CCDS8894.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.289402|4.289402	0.80914|0.80914	.|.	.|.	ENSG00000135392|ENSG00000257390	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287|ENST00000546837	T;T;T|.	0.46063|.	0.88;0.88;0.88|.	5.85|5.85	4.95|4.95	0.65309|0.65309	Heat shock protein DnaJ, N-terminal (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78521|0.78521	0.4296|0.4296	M|M	0.87269|0.87269	2.87|2.87	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.81697|0.81697	-0.0815|-0.0815	10|5	0.87932|.	D|.	0|.	-10.5894|-10.5894	13.4676|13.4676	0.61263|0.61263	0.0766:0.0:0.9234:0.0|0.0766:0.0:0.9234:0.0	.|.	484;484|.	Q6Y2X3;A8K5A7|.	DJC14_HUMAN;.|.	L|E	484;484;194;484|114	ENSP00000350223:F484L;ENSP00000316240:F484L;ENSP00000317500:F484L|.	ENSP00000316240:F484L|.	F|Q	-|-	3|1	2|0	DNAJC14|RP11-762I7.5	54503515|54503515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.272000|4.272000	0.58908|0.58908	1.599000|1.599000	0.50093|0.50093	0.655000|0.655000	0.94253|0.94253	TTC|CAA	DNAJC14	-	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	ENSG00000135392		0.443	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1		0	39	0	G	NM_032364		56217248	-1			no_errors	ENST00000317269	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	C	C	56217248	G	C	56217248	3	2	181	1	0	0	0	0	1	0	0	0	4647	1281	45	5	676	5	DNAJC14	12	56217248	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	856254	56217248	77634647	151	45051											
ERBB3	2065	genome.wustl.edu	37	chr12	56487277	56487277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaactggaccaaggtgcttCgggggcctacggaagagcga	10	6	16	9	3	0	2	0	1	0	1	1	5	0	4	2	5	4	1	2	5	4	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:56487277C>T	ENST00000267101.3	+	12	1863	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.R416W	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	475					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)			CAAGGTGCTTCGGGGGCCTAC	0.547																																																	0													77	77	77					12																	56487277		2203	4300	6503	SO:0001583	missense	0			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.1423C>T	12.37:g.56487277C>T	ENSP00000267101:p.Arg475Trp		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R475W	ENST00000267101.3	37	c.1423	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456923	0.84317	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.46063	0.88;0.88	5.16	5.16	0.70880	.	0.114383	0.39475	N	0.001348	T	0.44726	0.1307	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.54140	0.715;0.743	T	0.46775	-0.9167	10	0.72032	D	0.01	.	17.5796	0.87963	0.0:1.0:0.0:0.0	.	475;475	B4DGQ7;P21860	.;ERBB3_HUMAN	W	475;416	ENSP00000267101:R475W;ENSP00000408340:R416W	ENSP00000267101:R475W	R	+	1	2	ERBB3	54773544	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.998000	0.57024	2.676000	0.91093	0.655000	0.94253	CGG	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3		0	47	0	C			56487277	1			no_errors	ENST00000267101	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	56487277	C	T	56487277	3	4	181	1	0	0	0	0	1	0	0	0	5224	875	31	1	1600	1	ERBB3	12	56487277	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	270029	56487277	77364618	152	45052											
MYO1A	4640	genome.wustl.edu	37	chr12	57423252	57423252	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctaaagagcccatccttGaggctggtgactgacacccc	11	7	10	13	0	0	4	0	3	0	1	1	4	1	4	4	2	2	2	4	2	3	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:57423252G>C	ENST00000442789.2	-	27	3131	c.2844C>G	c.(2842-2844)ctC>ctG	p.L948L	MYO1A_ENST00000544473.1_Silent_p.L786L|MYO1A_ENST00000300119.3_Silent_p.L948L|TAC3_ENST00000415231.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	948	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GCCCATCCTTGAGGCTGGTGA	0.557																																																	0													119	113	115					12																	57423252		2203	4300	6503	SO:0001819	synonymous_variant	0			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2844C>G	12.37:g.57423252G>C			Q9UQD7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.L948	ENST00000442789.2	37	c.2844	CCDS8929.1	12																																																																																			MYO1A	-	pfam_Myosin_tail_2	ENSG00000166866		0.557	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	-	0	71	0	G	NM_005379		57423252	-1	tier1	-	no_errors	ENST00000300119	ensembl	human	known	74_37	silent	22.81	44	13	SNP	0.318	C	C	57423252	G	C	57423252	2	2	181	1	0	0	0	0	0	0	0	1	10106	1277	45	5		5	MYO1A	12	57423252	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	935975	57423252	76428643	153	45053											
KERA	11081	genome.wustl.edu	37	chr12	91449833	91449833	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggttgttttgaagataaaGataccaaattcttgaaggaa	16	12	9	4	0	1	4	0	2	1	2	1	5	1	5	1	2	1	2	1	2	7	7			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:91449833G>C	ENST00000266719.3	-	2	473	c.226C>G	c.(226-228)Ctt>Gtt	p.L76V		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	76					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						TGAAGATAAAGATACCAAATT	0.363																																																	0													104	97	99					12																	91449833		2203	4296	6499	SO:0001583	missense	0			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.226C>G	12.37:g.91449833G>C	ENSP00000266719:p.Leu76Val			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L76V	ENST00000266719.3	37	c.226	CCDS9037.1	12	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998260	0.54147	.	.	ENSG00000139330	ENST00000266719	T	0.79033	-1.23	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	L	0.54965	1.715	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	T	0.82514	-0.0419	10	0.41790	T	0.15	-19.4628	13.4086	0.60929	0.0716:0.0:0.9284:0.0	.	76	O60938	KERA_HUMAN	V	76	ENSP00000266719:L76V	ENSP00000266719:L76V	L	-	1	0	KERA	89973964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.434000	0.73408	2.785000	0.95823	0.650000	0.86243	CTT	KERA	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000139330		0.363	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KERA	HGNC	protein_coding	OTTHUMT00000407149.2	-	0	89	0	G	NM_007035		91449833	-1	tier1	-	no_errors	ENST00000266719	ensembl	human	known	74_37	missense	20.45	70	18	SNP	1.000	C	C	91449833	G	C	91449833	3	2	181	1	0	0	0	0	1	0	0	0	8170	942	33	5	840	5	KERA	12	91449833	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	34026581	91449833	42402062	154	45054											
UTP20	27340	genome.wustl.edu	37	chr12	101706052	101706052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgcttttcttgagatttatCaagtaagtttcctcttctaa	9	18	5	9	1	4	1	1	1	3	1	5	2	5	1	2	0	0	3	2	0	4	9			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:101706052C>G	ENST00000261637.4	+	21	2724	c.2550C>G	c.(2548-2550)atC>atG	p.I850M		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	850					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						TGAGATTTATCAAGTAAGTTT	0.448																																																	0													70	77	74					12																	101706052		2203	4300	6503	SO:0001583	missense	0			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.2550C>G	12.37:g.101706052C>G	ENSP00000261637:p.Ile850Met		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.I850M	ENST00000261637.4	37	c.2550	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103582	0.37145	.	.	ENSG00000120800	ENST00000261637	T	0.66638	-0.22	5.35	4.4	0.53042	Armadillo-type fold (1);	0.103747	0.64402	D	0.000003	T	0.50411	0.1614	L	0.47016	1.485	0.52501	D	0.999959	P	0.43314	0.803	B	0.36766	0.232	T	0.51317	-0.8721	10	0.33940	T	0.23	-17.243	3.9776	0.09481	0.0:0.5813:0.2206:0.1981	.	850	O75691	UTP20_HUMAN	M	850	ENSP00000261637:I850M	ENSP00000261637:I850M	I	+	3	3	UTP20	100230183	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	2.498000	0.45363	2.490000	0.84030	0.563000	0.77884	ATC	UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.448	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	-	0	91	0	C	NM_014503		101706052	1	tier1	-	no_errors	ENST00000261637	ensembl	human	known	74_37	missense	5.71	99	6	SNP	1.000	G	G	101706052	C	G	101706052	3	3	181	1	0	0	0	0	1	0	0	0	17148	816	29	5	2632	5	UTP20	12	101706052	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	10256219	101706052	32145843	155	45055											
CIT	11113	genome.wustl.edu	37	chr12	120128164	120128164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggggtgtgcttggctctCgcgggtggctggggccttcg	0	11	21	9	3	1	0	0	0	1	0	3	0	1	0	1	8	1	3	1	8	0	2	rs371376893		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:120128164C>T	ENST00000261833.7	-	46	5904	c.5852G>A	c.(5851-5853)cGa>cAa	p.R1951Q	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R1993Q	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1951					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)		GCTTGGCTCTCGCGGGTGGCT	0.726																																																	0								C	GLN/ARG,GLN/ARG	0,4394		0,0,2197	14	16	15		5978,5852	5.5	1	12		15	1,8573		0,1,4286	no	missense,missense	CIT	NM_001206999.1,NM_007174.2	43,43	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	1993/2070,1951/2028	120128164	1,12967	2197	4287	6484	SO:0001583	missense	0			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.5852G>A	12.37:g.120128164C>T	ENSP00000261833:p.Arg1951Gln		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R1951Q	ENST00000261833.7	37	c.5852	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.939676|4.939676	0.92526|0.92526	0.0|0.0	1.17E-4|1.17E-4	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.69040	.|-0.34;-0.37	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.238872	.|0.34853	.|N	.|0.003622	T|T	0.75287|0.75287	0.3829|0.3829	L|L	0.51422|0.51422	1.61|1.61	0.58432|0.58432	D|D	0.999991|0.999991	.|B;D;D	.|0.76494	.|0.026;0.999;0.996	.|B;P;P	.|0.56751	.|0.003;0.805;0.731	T|T	0.75199|0.75199	-0.3402|-0.3402	5|10	.|0.51188	.|T	.|0.08	.|.	19.7507|19.7507	0.96267|0.96267	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1993;1951;1468	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	K|Q	1564|1993;1951	.|ENSP00000376306:R1993Q;ENSP00000261833:R1951Q	.|ENSP00000261833:R1951Q	E|R	-|-	1|2	0|0	CIT|CIT	118612547|118612547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.637000|7.637000	0.83313|0.83313	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GAG|CGA	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.726	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	-	0	58	0	C	NM_007174		120128164	-1	tier1	-	no_errors	ENST00000261833	ensembl	human	known	74_37	missense	18.18	45	10	SNP	1.000	T	T	120128164	C	T	120128164	3	4	181	1	0	0	0	0	1	0	0	0	3445	884	31	1	239	1	CIT	12	120128164	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	18422112	120128164	13723731	156	45056											
SPPL3	121665	genome.wustl.edu	37	chr12	121205249	121205249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggagaccttctgcatgcgCccggagatgttggcaggtcc	7	9	14	11	2	1	2	0	0	1	2	2	4	2	2	3	4	2	3	3	4	1	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:121205249C>T	ENST00000353487.2	-	9	1424	c.921G>A	c.(919-921)ggG>ggA	p.G307G		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	308						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTGCATGCGCCCGGAGATGT	0.542																																																	0													66	66	66					12																	121205249		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"intramembrane protease 2", "presenilin-like protein 4"	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.921G>A	12.37:g.121205249C>T			Q3MJ04|Q8TAU4|Q96DD9	Silent	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.G307	ENST00000353487.2	37	c.921	CCDS9208.1	12																																																																																			SPPL3	-	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	ENSG00000157837		0.542	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2	-	0	139	0	C	NM_139015		121205249	-1	tier1	-	no_errors	ENST00000353487	ensembl	human	known	74_37	silent	7.69	96	8	SNP	0.655	T	T	121205249	C	T	121205249	2	4	181	1	0	0	0	0	0	0	0	1	15137	726	26	3		3	SPPL3	12	121205249	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	1077085	121205249	12646646	157	45057											
MLXIP	22877	genome.wustl.edu	37	chr12	122618301	122618301	+	Frame_Shift_Del	DEL	C	C	-																															ccacgatgcccccgccaccaCctttagccagagtcagggcc																										TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:122618301delC	ENST00000319080.7	+	9	1631	c.1499delC	c.(1498-1500)accfs	p.T500fs	MLXIP_ENST00000377037.2_Frame_Shift_Del_p.T90fs|MLXIP_ENST00000538698.1_Frame_Shift_Del_p.T107fs					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCGCCACCACCTTTAGCCAG	0.637																																					Esophageal Squamous(105;787 1493 16200 18566 52466)												0													39	48	45					12																	122618301		2177	4276	6453	SO:0001589	frameshift_variant	0			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1499delC	12.37:g.122618301delC	ENSP00000312834:p.Thr500fs			Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.F501fs	ENST00000319080.7	37	c.1499		12																																																																																			MLXIP	-	NULL	ENSG00000175727		0.637	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	HGNC	protein_coding	OTTHUMT00000401718.2		0	89	0	C	NM_014938		122618301	1	tier1		no_errors	ENST00000319080	ensembl	human	known	74_37	frame_shift_del	12.26	93	13	DEL	1.000	-	-	122618301	C	-	122618301	7	5	181	1	0	1	0	1	0	0	0	0	9674	507	18	0	1533	0	MLXIP	12	122618301	Frame_Shift_Del	DEL	C	TCGA-Z6-A8JD-01A-11D-A36J-09	1413052	122618301	11233594	158	45058											
KNTC1	9735	genome.wustl.edu	37	chr12	123057522	123057522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggaagtatgtcagctaagGactttggtaaataacttgcg	13	11	12	5	1	1	0	1	0	0	0	1	3	1	2	0	3	3	3	0	3	6	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:123057522G>T	ENST00000333479.7	+	25	2235	c.2058G>T	c.(2056-2058)agG>agT	p.R686S	KNTC1_ENST00000450485.2_Missense_Mutation_p.R649S	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	686					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)		GTCAGCTAAGGACTTTGGTAA	0.338																																																	0													72	65	67					12																	123057522		1842	4087	5929	SO:0001583	missense	0				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.2058G>T	12.37:g.123057522G>T	ENSP00000328236:p.Arg686Ser		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.R686S	ENST00000333479.7	37	c.2058	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	8.920	0.960882	0.18583	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.22134	1.97;2.53	5.45	1.43	0.22495	.	0.476475	0.23902	N	0.043431	T	0.15089	0.0364	L	0.47716	1.5	0.09310	N	1	B;B	0.24258	0.1;0.022	B;B	0.21708	0.036;0.004	T	0.29150	-1.0021	10	0.21540	T	0.41	-5.8984	6.3838	0.21550	0.1309:0.1081:0.6499:0.1112	.	649;686	E7ES84;P50748	.;KNTC1_HUMAN	S	649;686	ENSP00000397992:R649S;ENSP00000328236:R686S	ENSP00000328236:R686S	R	+	3	2	KNTC1	121623475	0.239000	0.23836	0.010000	0.14722	0.539000	0.34962	1.563000	0.36364	-0.211000	0.10124	-0.797000	0.03246	AGG	KNTC1	-	NULL	ENSG00000184445		0.338	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	-	0	127	0	G			123057522	1	tier1	-	no_errors	ENST00000333479	ensembl	human	known	74_37	missense	10.00	108	12	SNP	0.000	T	T	123057522	G	T	123057522	3	4	181	1	0	0	0	0	1	0	0	0	8455	1165	41	3	2152	3	KNTC1	12	123057522	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	439221	123057522	10794373	159	45059											
NCOR2	9612	genome.wustl.edu	37	chr12	124887058	124887058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggctgctgcggggcatgGgctgctgctgctgctgctgc	1	10	17	13	1	0	0	0	0	0	0	0	0	0	0	1	4	8	9	1	4	0	0	rs372331070|rs35831183|rs559681337	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:124887058G>T	ENST00000405201.1	-	14	1532	c.1532C>A	c.(1531-1533)cCc>cAc	p.P511H	NCOR2_ENST00000404621.1_Missense_Mutation_p.P510H|NCOR2_ENST00000429285.2_Missense_Mutation_p.P510H|NCOR2_ENST00000356219.3_Missense_Mutation_p.P511H|NCOR2_ENST00000404121.2_Missense_Mutation_p.P81H|NCOR2_ENST00000397355.1_Missense_Mutation_p.P511H			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	511					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)		GCGGGGCATGGgctgctgctg	0.617																																																	0													21	24	23					12																	124887058		2086	4209	6295	SO:0001583	missense	0			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.1532C>A	12.37:g.124887058G>T	ENSP00000384018:p.Pro511His		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P511H	ENST00000405201.1	37	c.1532	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	8.042	0.764060	0.15914	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;1.59;3.46;1.59;0.74	4.08	1.58	0.23477	.	2.609730	0.01459	N	0.015802	T	0.51753	0.1693	N	0.22421	0.69	0.22468	N	0.999074	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43782	-0.9370	10	0.62326	D	0.03	0.0821	8.9039	0.35512	0.0:0.0:0.3934:0.6066	.	510;511;511	C9J0Q5;C9J239;C9JFD3	.;.;.	H	511;510;511;511;511;81;510;511	ENSP00000384018:P511H;ENSP00000384202:P510H;ENSP00000348551:P511H;ENSP00000380513:P511H;ENSP00000385618:P81H;ENSP00000400281:P510H;ENSP00000402808:P511H	ENSP00000348551:P511H	P	-	2	0	NCOR2	123453011	0.967000	0.33354	0.992000	0.48379	0.762000	0.43233	1.778000	0.38614	0.098000	0.17522	0.313000	0.20887	CCC	NCOR2	-	NULL	ENSG00000196498		0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2		0	38	0	G	NM_006312		124887058	-1			no_errors	ENST00000356219	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.999	T	T	124887058	G	T	124887058	3	4	181	1	0	0	0	0	1	0	0	0	10275	1232	43	3	6172	3	NCOR2	12	124887058	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	1829536	124887058	8964837	160	45060											
PIWIL1	9271	genome.wustl.edu	37	chr12	130847365	130847365	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagctggtagatgggctCaaagtctgcctgcaaggtta	10	9	14	8	0	2	1	1	0	1	1	2	2	2	2	1	4	3	5	1	4	4	2	rs377358932		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:130847365C>G	ENST00000245255.3	+	17	2297	c.2025C>G	c.(2023-2025)ctC>ctG	p.L675L		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	675	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.|RNA-binding. {ECO:0000250}.				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)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAGATGGGCTCAAAGTCTGCC	0.458																																																	0													120	109	113					12																	130847365		2203	4300	6503	SO:0001819	synonymous_variant	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2025C>G	12.37:g.130847365C>G			A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.L675	ENST00000245255.3	37	c.2025	CCDS9268.1	12																																																																																			PIWIL1	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000125207		0.458	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	-	0	84	0	C			130847365	1	tier1	-	no_errors	ENST00000245255	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.996	G	G	130847365	C	G	130847365	2	3	181	1	0	0	0	0	0	0	0	1	11996	813	29	5		5	PIWIL1	12	130847365	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	5960307	130847365	3004530	161	45061											
NOC4L	79050	genome.wustl.edu	37	chr12	132636906	132636906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccagggcctgctgggacGgccgggtgaactctgtgccc	5	6	16	14	2	1	1	0	1	1	0	1	2	1	2	4	4	4	1	4	4	1	0	rs564484388		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:132636906G>T	ENST00000330579.1	+	15	1552	c.1511G>T	c.(1510-1512)cGg>cTg	p.R504L	NOC4L_ENST00000538784.1_Missense_Mutation_p.R119L	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	504					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)		CTGCTGGGACGGCCGGGTGAA	0.587																																																	0													23	23	23					12																	132636906		2171	4274	6445	SO:0001583	missense	0				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.1511G>T	12.37:g.132636906G>T	ENSP00000328854:p.Arg504Leu		Q8N2S5|Q96I14	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.R504L	ENST00000330579.1	37	c.1511	CCDS9277.1	12	.	.	.	.	.	.	.	.	.	.	G	4.811	0.150726	0.09185	.	.	ENSG00000184967	ENST00000330579;ENST00000538784	T;T	0.32023	1.47;1.47	4.61	-1.06	0.10002	.	0.600127	0.16133	N	0.228103	T	0.12774	0.0310	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14144	-1.0483	10	0.28530	T	0.3	-25.3426	1.3224	0.02118	0.1723:0.1349:0.2817:0.4111	.	504	Q9BVI4	NOC4L_HUMAN	L	504;119	ENSP00000328854:R504L;ENSP00000443336:R119L	ENSP00000328854:R504L	R	+	2	0	NOC4L	131202859	0.000000	0.05858	0.122000	0.21767	0.007000	0.05969	0.404000	0.20999	0.034000	0.15491	-0.332000	0.08345	CGG	NOC4L	-	NULL	ENSG00000184967		0.587	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC4L	HGNC	protein_coding	OTTHUMT00000398999.1	-	0	163	0	G	NM_024078		132636906	1	tier1	-	no_errors	ENST00000330579	ensembl	human	known	74_37	missense	9.02	120	12	SNP	0.004	T	T	132636906	G	T	132636906	3	4	181	1	0	0	0	0	1	0	0	0	10554	1116	39	2	1569	2	NOC4L	12	132636906	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	1789541	132636906	1214989	162	45062											
NBEA	26960	genome.wustl.edu	37	chr13	35734011	35734011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactaaggggctggagtatGctgaaatgactgctacaact	13	9	11	8	0	0	2	0	2	0	0	0	3	0	3	0	3	5	4	0	3	6	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr13:35734011G>T	ENST00000400445.3	+	22	4237	c.3703G>T	c.(3703-3705)Gct>Tct	p.A1235S	NBEA_ENST00000540320.1_Missense_Mutation_p.A1235S|NBEA_ENST00000379939.2_Missense_Mutation_p.A1235S|NBEA_ENST00000310336.4_Missense_Mutation_p.A1235S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1235					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)		GCTGGAGTATGCTGAAATGAC	0.358																																																	0													51	54	53					13																	35734011		1891	4109	6000	SO:0001583	missense	0			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.3703G>T	13.37:g.35734011G>T	ENSP00000383295:p.Ala1235Ser		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.A1235S	ENST00000400445.3	37	c.3703	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	4.574	0.106549	0.08780	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.91	4.09	0.47781	.	0.332587	0.32055	N	0.006644	T	0.22551	0.0544	N	0.14661	0.345	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.08617	-1.0713	10	0.09590	T	0.72	.	3.6336	0.08141	0.1428:0.1339:0.5848:0.1385	.	1235	Q5T321	.	S	1235	ENSP00000440951:A1235S;ENSP00000383295:A1235S;ENSP00000369271:A1235S;ENSP00000308534:A1235S	ENSP00000308534:A1235S	A	+	1	0	NBEA	34632011	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.499000	0.35671	1.510000	0.48803	0.650000	0.86243	GCT	NBEA	-	NULL	ENSG00000172915		0.358	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	72	0	G	NM_015678		35734011	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.990	T	T	35734011	G	T	35734011	3	4	181	1	0	0	0	0	1	0	0	0	10225	1319	46	3	3789	3	NBEA	13	35734011	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09		35734011	79435867	163	45063											
RB1	5925	genome.wustl.edu	37	chr13	48878083	48878085	+	In_Frame_Del	DEL	CCG	CCG	-																															cccccgaaaaacggccgccaCcgccgccgctgccgccgcgg																								rs572454921	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	CCG	CCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr13:48878083_48878085delCCG	ENST00000267163.4	+	1	173_175	c.35_37delCCG	c.(34-39)accgcc>acc	p.A18del	LINC00441_ENST00000433480.2_lincRNA	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	18	Poly-Ala.				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.?(1)		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)"	ACGgccgccaccgccgccgctgc	0.764		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"	16	Whole gene deletion(15)|Unknown(1)	bone(10)|breast(2)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)																																								SO:0001651	inframe_deletion	0	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.35_37delCCG	13.37:g.48878089_48878091delCCG	ENSP00000267163:p.Ala18del		A8K5E3|P78499|Q5VW46|Q8IZL4	In_Frame_Del	DEL	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A16in_frame_del	ENST00000267163.4	37	c.35_37	CCDS31973.1	13																																																																																			RB1	-	NULL	ENSG00000139687		0.764	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1		0	10	0	CCG			48878085	1			no_errors	ENST00000267163	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	0.009:0.012:0.032	0	-	48878085	CCG	-	48878083	7	5	181	1	0	1	0	1	0	0	0	0	13143	507	18	0	37	0	RB1	13	48878083	In_Frame_Del	DEL	CCG	TCGA-Z6-A8JD-01A-11D-A36J-09	13144072	48878083	66291795	164	45064											
GAS6	2621	genome.wustl.edu	37	chr13	114535349	114535349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgtagcgcagctgcagctCcagccggccggctctcaggg	5	7	15	14	3	1	0	1	0	1	0	3	0	2	0	3	3	5	7	3	3	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr13:114535349C>T	ENST00000327773.6	-	10	1212	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	GAS6_ENST00000355761.4_Missense_Mutation_p.E302K|GAS6_ENST00000450766.1_Missense_Mutation_p.E83K|GAS6_ENST00000357389.3_Missense_Mutation_p.E399K|GAS6_ENST00000418959.3_Missense_Mutation_p.E57K|GAS6-AS1_ENST00000458001.1_RNA	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	399	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGCTGCAGCTCCAGCCGGCCG	0.657																																																	0													29	31	30					13																	114535349		2191	4284	6475	SO:0001583	missense	0				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1066G>A	13.37:g.114535349C>T	ENSP00000331831:p.Glu356Lys		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.E399K	ENST00000327773.6	37	c.1195	CCDS45072.1	13	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700070	0.88924	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.	.	.	.	D	0.88599	0.6480	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.992;0.964	D	0.90475	0.4456	9	0.72032	D	0.01	-43.1369	17.56	0.87903	0.0:1.0:0.0:0.0	.	399;83;356	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	K	399;302;83;57;356	ENSP00000349962:E399K;ENSP00000348003:E302K;ENSP00000416498:E83K;ENSP00000400117:E57K;ENSP00000331831:E356K	ENSP00000331831:E356K	E	-	1	0	GAS6	113578594	1.000000	0.71417	0.998000	0.56505	0.743000	0.42351	4.037000	0.57311	2.128000	0.65567	0.462000	0.41574	GAG	GAS6	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000183087		0.657	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	-	0	50	0	C	NM_000820		114535349	-1	tier1	-	no_errors	ENST00000357389	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T	T	114535349	C	T	114535349	3	4	181	1	0	0	0	0	1	0	0	0	6274	864	30	3	994	3	GAS6	13	114535349	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	65657266	114535349	634529	165	45065											
MYH6	4624	genome.wustl.edu	37	chr14	23876283	23876283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccctcccgggacaaaatCttggctttgacaaactcttc	9	11	6	15	1	2	1	0	1	2	0	5	2	4	2	3	2	1	1	3	2	3	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:23876283C>G	ENST00000356287.3	-	2	179	c.150G>C	c.(148-150)aaG>aaC	p.K50N	MYH6_ENST00000405093.3_Missense_Mutation_p.K50N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	50					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)		GGGACAAAATCTTGGCTTTGA	0.567																																																	0													227	229	228					14																	23876283		2203	4300	6503	SO:0001583	missense	0			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.150G>C	14.37:g.23876283C>G	ENSP00000348634:p.Lys50Asn		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K50N	ENST00000356287.3	37	c.150	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	.	5.910	0.351934	0.11182	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80994	-1.44;-1.44	3.53	2.64	0.31445	Myosin, N-terminal, SH3-like (1);	.	.	.	.	T	0.73969	0.3655	L	0.54323	1.7	0.26704	N	0.971112	B;B	0.26318	0.146;0.146	B;B	0.32289	0.143;0.143	T	0.66767	-0.5840	9	0.59425	D	0.04	.	2.7968	0.05403	0.2046:0.4805:0.0:0.315	.	50;50	D9YZU2;P13533	.;MYH6_HUMAN	N	50	ENSP00000386041:K50N;ENSP00000348634:K50N	ENSP00000348634:K50N	K	-	3	2	MYH6	22946123	0.721000	0.28007	0.976000	0.42696	0.161000	0.22273	0.175000	0.16762	0.826000	0.34661	0.455000	0.32223	AAG	MYH6	-	pfam_Myosin_N	ENSG00000197616		0.567	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0	62	0	C			23876283	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	16.88	64	13	SNP	0.989	G	G	23876283	C	G	23876283	3	3	181	1	0	0	0	0	1	0	0	0	10076	912	32	5	5817	5	MYH6	14	23876283	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09		23876283	83473257	166	45066											
COCH	1690	genome.wustl.edu	37	chr14	31355479	31355479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacagatgggcagtcctatGatgatgtccaaggccctgca	10	9	11	11	0	1	3	1	2	0	1	3	3	3	3	3	2	1	2	3	2	2	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:31355479G>A	ENST00000396618.3	+	11	1494	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	COCH_ENST00000460581.2_Missense_Mutation_p.D368N|COCH_ENST00000475087.1_Missense_Mutation_p.D480N|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.D331N|RP11-829H16.3_ENST00000555421.1_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.D480N	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	480	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)		GCAGTCCTATGATGATGTCCA	0.458																																																	0													60	59	59					14																	31355479		2203	4300	6503	SO:0001583	missense	0				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.1438G>A	14.37:g.31355479G>A	ENSP00000379862:p.Asp480Asn		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.D480N	ENST00000396618.3	37	c.1438	CCDS9640.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.336044|5.336044	0.95758|0.95758	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493|ENST00000468826	D;D;D;D;D|.	0.85013|.	-1.93;-1.93;-1.93;-1.93;-1.93|.	5.89|5.89	5.89|5.89	0.94794|0.94794	von Willebrand factor, type A (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87067|0.87067	0.6085|0.6085	M|M	0.92122|0.92122	3.275|3.275	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|.	D|D	0.88974|0.88974	0.3403|0.3403	10|5	0.87932|.	D|.	0|.	-23.5187|-23.5187	20.2625|20.2625	0.98452|0.98452	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	331;480;480|.	E7EN67;Q96IU6;O43405|.	.;.;COCH_HUMAN|.	N|I	480;480;480;368;331|363	ENSP00000216361:D480N;ENSP00000379862:D480N;ENSP00000451528:D480N;ENSP00000451713:D368N;ENSP00000371933:D331N|.	ENSP00000216361:D480N|.	D|M	+|+	1|3	0|0	COCH|COCH	30425230|30425230	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.675000|9.675000	0.98638|0.98638	2.782000|2.782000	0.95742|0.95742	0.557000|0.557000	0.71058|0.71058	GAT|ATG	COCH	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000100473		0.458	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	COCH	HGNC	protein_coding	OTTHUMT00000276608.1	-	0	67	0	G	NM_004086		31355479	1	tier1	-	no_errors	ENST00000216361	ensembl	human	known	74_37	missense	11.83	82	11	SNP	1.000	A	A	31355479	G	A	31355479	3	1	181	1	0	0	0	0	1	0	0	0	3663	1290	45	3	1476	3	COCH	14	31355479	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	7479196	31355479	75994061	167	45067											
RALGAPA1	253959	genome.wustl.edu	37	chr14	36277997	36277997	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttggtgtctagcaccttCtgggtggacttcttcacgtc	4	16	10	11	1	5	0	1	0	4	0	6	1	5	1	1	3	1	1	1	3	1	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:36277997C>G	ENST00000389698.3	-	1	435	c.45G>C	c.(43-45)caG>caC	p.Q15H	AL162311.1_ENST00000582013.1_RNA|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.Q15H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.Q15H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.Q15H	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	15					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						CTAGCACCTTCTGGGTGGACT	0.657																																																	0													93	67	76					14																	36277997		2203	4298	6501	SO:0001583	missense	0			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.45G>C	14.37:g.36277997C>G	ENSP00000374348:p.Gln15His		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.Q15H	ENST00000389698.3	37	c.45	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684868	0.88639	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	4.83	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.82056	2.57	0.58432	D	0.999999	P;D;D;D	0.76494	0.616;0.996;0.999;0.998	B;D;D;D	0.85130	0.421;0.986;0.997;0.993	D	0.87491	0.2427	10	0.45353	T	0.12	-6.7017	13.1559	0.59516	0.0:0.9215:0.0:0.0785	.	15;15;15;15	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	H	15	ENSP00000374348:Q15H;ENSP00000302647:Q15H;ENSP00000258840:Q15H;ENSP00000371803:Q15H;ENSP00000451877:Q15H	ENSP00000258840:Q15H	Q	-	3	2	RALGAPA1	35347748	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.470000	0.66756	1.393000	0.46605	0.563000	0.77884	CAG	RALGAPA1	-	NULL	ENSG00000174373		0.657	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	-	0	92	0	C	XM_210022		36277997	-1	tier1	-	no_errors	ENST00000258840	ensembl	human	known	74_37	missense	22.67	58	17	SNP	1.000	G	G	36277997	C	G	36277997	3	3	181	1	0	0	0	0	1	0	0	0	13058	912	32	5	6378	5	RALGAPA1	14	36277997	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	4922518	36277997	71071543	168	45068											
CLEC14A	161198	genome.wustl.edu	37	chr14	38724231	38724231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tgaattgtcttgttcagggaCaagtggtgtctctcccagct	7	14	11	9	0	3	1	1	1	2	0	5	2	4	2	1	2	1	2	1	2	2	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:38724231C>A	ENST00000342213.2	-	1	1343	c.997G>T	c.(997-999)Gtc>Ttc	p.V333F		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	333						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGTTCAGGGACAAGTGGTGTC	0.577																																																	0													98	83	88					14																	38724231		2203	4300	6503	SO:0001583	missense	0				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.997G>T	14.37:g.38724231C>A	ENSP00000353013:p.Val333Phe		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.V333F	ENST00000342213.2	37	c.997	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355171	0.61293	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.76578	-1.03	4.23	2.42	0.29668	.	2.683750	0.02233	U	0.065068	T	0.71821	0.3385	L	0.27053	0.805	0.09310	N	1	P	0.47677	0.899	P	0.45610	0.487	T	0.61004	-0.7150	10	0.46703	T	0.11	-0.1132	6.8596	0.24060	0.0:0.7912:0.0:0.2088	.	333	Q86T13	CLC14_HUMAN	F	333;98	ENSP00000353013:V333F	ENSP00000353013:V333F	V	-	1	0	CLEC14A	37793982	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	0.452000	0.21795	0.748000	0.32831	0.563000	0.77884	GTC	CLEC14A	-	NULL	ENSG00000176435		0.577	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	-	0	38	0	C	NM_175060		38724231	-1	tier1	-	no_errors	ENST00000342213	ensembl	human	known	74_37	missense	16.67	35	7	SNP	0.000	A	A	38724231	C	A	38724231	3	1	181	1	0	0	0	0	1	0	0	0	3506	478	17	3	479	3	CLEC14A	14	38724231	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2446234	38724231	68625309	169	45069											
LRFN5	145581	genome.wustl.edu	37	chr14	42356105	42356105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caataagttttattacacctCatgctttcgctgacctacga	11	14	5	11	2	1	1	1	1	0	0	2	2	1	1	2	0	3	3	2	0	5	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:42356105C>G	ENST00000298119.4	+	3	1466	c.277C>G	c.(277-279)Cat>Gat	p.H93D	LRFN5_ENST00000554171.1_Missense_Mutation_p.H93D|LRFN5_ENST00000554120.1_Missense_Mutation_p.H93D	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	93						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)		TATTACACCTCATGCTTTCGC	0.348										HNSCC(30;0.082)																																							0													56	56	56					14																	42356105		2203	4300	6503	SO:0001583	missense	0			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.277C>G	14.37:g.42356105C>G	ENSP00000298119:p.His93Asp		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.H93D	ENST00000298119.4	37	c.277	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304282	0.23736	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.91068	-2.78;-2.78;-2.78	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	T	0.78451	0.4285	N	0.00554	-1.385	0.51767	D	0.999931	B;B	0.29571	0.11;0.249	B;B	0.38755	0.098;0.281	T	0.79586	-0.1742	10	0.37606	T	0.19	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	93;93	G3V364;Q96NI6	.;LRFN5_HUMAN	D	93	ENSP00000298119:H93D;ENSP00000451897:H93D;ENSP00000451067:H93D	ENSP00000298119:H93D	H	+	1	0	LRFN5	41425855	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.312000	0.51927	2.595000	0.87683	0.650000	0.86243	CAT	LRFN5	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000165379		0.348	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0	58	0	C	NM_152447		42356105	1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	G	G	42356105	C	G	42356105	3	3	181	1	0	0	0	0	1	0	0	0	8976	826	29	5	279	5	LRFN5	14	42356105	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	3631874	42356105	64993435	170	45070											
MDGA2	161357	genome.wustl.edu	37	chr14	47504275	47504275	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatccattgtattggctGgtctgacatctgtacattcc	9	16	7	9	0	2	1	0	1	2	0	4	1	4	1	2	2	1	3	2	2	4	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:47504275G>T	ENST00000399232.2	-	8	1915	c.1551C>A	c.(1549-1551)acC>acA	p.T517T	MDGA2_ENST00000439988.3_Silent_p.T586T|MDGA2_ENST00000426342.1_Silent_p.T288T|MDGA2_ENST00000357362.3_Silent_p.T288T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	517	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTATTGGCTGGTCTGACATC	0.418																																																	0													146	147	146					14																	47504275		1972	4163	6135	SO:0001819	synonymous_variant	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1551C>A	14.37:g.47504275G>T			F6W3S7|J3KPX6	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.T586	ENST00000399232.2	37	c.1758		14																																																																																			MDGA2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000272781		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	65	0	G	NM_182830		47504275	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	silent	16.48	76	15	SNP	0.999	T	T	47504275	G	T	47504275	2	4	181	1	0	0	0	0	0	0	0	1	9445	1335	47	3		3	MDGA2	14	47504275	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	5148170	47504275	59845265	171	45071											
FERMT2	10979	genome.wustl.edu	37	chr14	53325210	53325210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaattcatgaaccactttgCaatctacttcagtacaaatg	14	13	5	9	0	3	2	2	2	1	0	3	2	3	2	1	0	4	2	1	0	6	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:53325210C>T	ENST00000395631.2	-	15	2144	c.1928G>A	c.(1927-1929)tGc>tAc	p.C643Y	FERMT2_ENST00000341590.3_Missense_Mutation_p.C643Y|FERMT2_ENST00000553373.1_Missense_Mutation_p.C650Y|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000343279.4_Missense_Mutation_p.C650Y			Q96AC1	FERM2_HUMAN	fermitin family member 2	643	FERM.				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)					AACCACTTTGCAATCTACTTC	0.408																																																	0													167	145	152					14																	53325210		2203	4300	6503	SO:0001583	missense	0			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.1928G>A	14.37:g.53325210C>T	ENSP00000378993:p.Cys643Tyr		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.C650Y	ENST00000395631.2	37	c.1949	CCDS9713.1	14	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664943	0.67700	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	6.02	6.02	0.97574	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.90738	0.7093	M	0.88570	2.965	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.87578	0.998;0.984	D	0.91243	0.5023	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	643;650	Q96AC1;B5TJY2	FERM2_HUMAN;.	Y	643;643;603;650;650	ENSP00000378993:C643Y;ENSP00000340391:C643Y;ENSP00000450741:C603Y;ENSP00000342858:C650Y;ENSP00000451084:C650Y	ENSP00000340391:C643Y	C	-	2	0	FERMT2	52394960	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.796000	0.85898	2.857000	0.98124	0.650000	0.86243	TGC	FERMT2	-	NULL	ENSG00000073712		0.408	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2		0	72	0	C	NM_006832		53325210	-1			no_errors	ENST00000343279	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	53325210	C	T	53325210	3	4	181	1	0	0	0	0	1	0	0	0	5840	710	25	3	118	3	FERMT2	14	53325210	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	5820935	53325210	54024330	172	45072											
DLGAP5	9787	genome.wustl.edu	37	chr14	55644016	55644016	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgcattagtttgtgaattCaaagtattttcttcactatc	10	19	6	6	0	3	1	2	1	1	0	4	1	3	1	0	0	1	4	0	0	5	9			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:55644016C>G	ENST00000247191.2	-	8	1029	c.813G>C	c.(811-813)ttG>ttC	p.L271F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.L271F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	271					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						TTTGTGAATTCAAAGTATTTT	0.323																																																	0													96	95	95					14																	55644016		2202	4298	6500	SO:0001583	missense	0			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.813G>C	14.37:g.55644016C>G	ENSP00000247191:p.Leu271Phe		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	pfam_GKAP	p.L271F	ENST00000247191.2	37	c.813	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923322	0.52653	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.12984	2.63;2.63	5.85	4.96	0.65561	.	1.035160	0.07566	N	0.917740	T	0.24851	0.0603	M	0.63843	1.955	0.09310	N	1	D;D	0.56035	0.974;0.974	P;P	0.50617	0.646;0.646	T	0.12243	-1.0555	10	0.15066	T	0.55	.	12.5581	0.56265	0.0:0.9238:0.0:0.0762	.	271;271	A8MTM6;Q15398	.;DLGP5_HUMAN	F	271	ENSP00000378815:L271F;ENSP00000247191:L271F	ENSP00000247191:L271F	L	-	3	2	DLGAP5	54713769	0.075000	0.21258	0.969000	0.41365	0.956000	0.61745	2.536000	0.45693	1.627000	0.50400	0.655000	0.94253	TTG	DLGAP5	-	NULL	ENSG00000126787		0.323	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	-	0	38	0	C	NM_014750		55644016	-1	tier1	-	no_errors	ENST00000247191	ensembl	human	known	74_37	missense	36.36	42	24	SNP	0.044	G	G	55644016	C	G	55644016	3	3	181	1	0	0	0	0	1	0	0	0	4577	825	29	5	1870	5	DLGAP5	14	55644016	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2318806	55644016	51705524	173	45073											
ACTR10	55860	genome.wustl.edu	37	chr14	58690395	58690395	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaaaatccaagcagcaaaAtttaatattgatgggaataa	20	10	6	5	0	0	1	0	1	0	0	1	2	1	2	1	1	2	2	1	1	10	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:58690395A>C	ENST00000254286.4	+	9	770	c.690A>C	c.(688-690)aaA>aaC	p.K230N		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	230					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						AAGCAGCAAAATTTAATATTG	0.308																																																	0													69	69	69					14																	58690395		2203	4300	6503	SO:0001583	missense	0			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.690A>C	14.37:g.58690395A>C	ENSP00000254286:p.Lys230Asn		Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.K230N	ENST00000254286.4	37	c.690	CCDS32090.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.22|15.22	2.767820|2.767820	0.49574|0.49574	.|.	.|.	ENSG00000131966|ENSG00000131966	ENST00000554642|ENST00000543474;ENST00000254286	.|D	.|0.94457	.|-3.43	5.88|5.88	3.45|3.45	0.39498|0.39498	.|.	.|0.044427	.|0.85682	.|D	.|0.000000	D|D	0.92912|0.92912	0.7745|0.7745	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999995|0.999995	.|P;P	.|0.47841	.|0.901;0.81	.|P;B	.|0.49332	.|0.607;0.327	D|D	0.91912|0.91912	0.5540|0.5540	5|10	.|0.72032	.|D	.|0.01	-13.043|-13.043	9.1901|9.1901	0.37193|0.37193	0.7849:0.0:0.2151:0.0|0.7849:0.0:0.2151:0.0	.|.	.|230;230	.|Q53H79;Q9NZ32	.|.;ARP10_HUMAN	L|N	14|230	.|ENSP00000254286:K230N	.|ENSP00000254286:K230N	I|K	+|+	1|3	0|2	ACTR10|ACTR10	57760148|57760148	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.639000|0.639000	0.24690|0.24690	1.008000|1.008000	0.39264|0.39264	0.533000|0.533000	0.62120|0.62120	ATT|AAA	ACTR10	-	pfam_Actin-related,smart_Actin-related	ENSG00000131966		0.308	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ACTR10	HGNC	protein_coding	OTTHUMT00000411405.1	-	0	93	0	A			58690395	1	tier1	-	no_errors	ENST00000254286	ensembl	human	known	74_37	missense	10.92	106	13	SNP	1.000	C	C	58690395	A	C	58690395	3	2	181	1	0	0	0	0	1	0	0	0	208	98	4	4	724	4	ACTR10	14	58690395	Missense_Mutation	SNP	A	TCGA-Z6-A8JD-01A-11D-A36J-09	3046379	58690395	48659145	174	45074											
ARID4A	5926	genome.wustl.edu	37	chr14	58796860	58796860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgatgaagagaaggaaaaGgaggccaaaaagacagaaga	23	2	13	3	0	0	6	0	2	0	4	0	9	0	8	1	3	0	0	1	3	8	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:58796860G>T	ENST00000355431.3	+	11	1252	c.879G>T	c.(877-879)aaG>aaT	p.K293N	ARID4A_ENST00000348476.3_Missense_Mutation_p.K293N|ARID4A_ENST00000395168.3_Missense_Mutation_p.K293N|ARID4A_ENST00000431317.2_Missense_Mutation_p.K293N	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	293					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						AGAAGGAAAAGGAGGCCAAAA	0.343																																																	0													102	96	98					14																	58796860		2203	4300	6503	SO:0001583	missense	0			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.879G>T	14.37:g.58796860G>T	ENSP00000347602:p.Lys293Asn		Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.K293N	ENST00000355431.3	37	c.879	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799188	0.50208	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T	0.15834	2.4;2.39;2.41;2.39	6.07	0.648	0.17801	ARID/BRIGHT DNA-binding domain (1);	0.712351	0.14510	N	0.315151	T	0.18923	0.0454	L	0.56769	1.78	0.44927	D	0.997945	P;B;B	0.36282	0.546;0.041;0.016	B;B;B	0.38755	0.281;0.064;0.016	T	0.05402	-1.0887	10	0.45353	T	0.12	-4.8475	10.6315	0.45538	0.4787:0.0:0.5213:0.0	.	293;293;293	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	N	293;293;293;256;293	ENSP00000347602:K293N;ENSP00000344556:K293N;ENSP00000378597:K293N;ENSP00000397368:K293N	ENSP00000344556:K293N	K	+	3	2	ARID4A	57866613	0.984000	0.35163	0.998000	0.56505	0.995000	0.86356	0.214000	0.17541	0.095000	0.17434	0.655000	0.94253	AAG	ARID4A	-	superfamily_ARID/BRIGHT_DNA-bd	ENSG00000032219		0.343	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	-	0	46	0	G	NM_023001		58796860	1	tier1	-	no_errors	ENST00000355431	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	58796860	G	T	58796860	3	4	181	1	0	0	0	0	1	0	0	0	919	991	35	3	917	3	ARID4A	14	58796860	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	106465	58796860	48552680	175	45075											
RTN1	6252	genome.wustl.edu	37	chr14	60069967	60069967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacaggtagagtaaacattGaaaccacagctgggatgaaa	17	7	10	7	0	0	3	0	2	0	1	0	4	0	4	1	2	4	3	1	2	6	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:60069967G>A	ENST00000267484.5	-	7	2527	c.2192C>T	c.(2191-2193)tCa>tTa	p.S731L	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Missense_Mutation_p.S148L|RTN1_ENST00000342503.4_Missense_Mutation_p.S163L	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	731	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)		AGTAAACATTGAAACCACAGC	0.303																																																	0													55	54	54					14																	60069967		2203	4300	6503	SO:0001583	missense	0			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.2192C>T	14.37:g.60069967G>A	ENSP00000267484:p.Ser731Leu		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.S731L	ENST00000267484.5	37	c.2192	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178610	0.78564	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.37235	1.21;1.21;1.21	6.02	6.02	0.97574	.	0.053861	0.85682	D	0.000000	T	0.52837	0.1759	L	0.31845	0.965	0.80722	D	1	P;D;B	0.76494	0.607;0.999;0.182	P;D;B	0.77557	0.686;0.99;0.138	T	0.48547	-0.9026	10	0.56958	D	0.05	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	148;731;163	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	L	311;731;148;163;657	ENSP00000267484:S731L;ENSP00000378525:S148L;ENSP00000340716:S163L	ENSP00000267484:S731L	S	-	2	0	RTN1	59139720	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.523000	0.73787	2.865000	0.98341	0.655000	0.94253	TCA	RTN1	-	pfam_Reticulon,pfscan_Reticulon	ENSG00000139970		0.303	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	-	0	67	0	G			60069967	-1	tier1	-	no_errors	ENST00000267484	ensembl	human	known	74_37	missense	9.40	106	11	SNP	1.000	A	A	60069967	G	A	60069967	3	1	181	1	0	0	0	0	1	0	0	0	13770	1294	45	3	150	3	RTN1	14	60069967	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	1273107	60069967	47279573	176	45076											
MNAT1	4331	genome.wustl.edu	37	chr14	61278748	61278748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagctttagaagtggaacGacaggaaaatgaacaaagaa	21	5	11	4	1	0	4	0	1	0	3	0	7	0	6	0	2	3	1	0	2	9	2	rs373266719		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:61278748G>A	ENST00000261245.4	+	5	565	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	MNAT1_ENST00000539616.2_Missense_Mutation_p.R155Q	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	155					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|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)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GAAGTGGAACGACAGGAAAAT	0.343								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																									0								G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	104	116	112		464,464	4.7	1	14		112	0,8598		0,0,4299	no	missense,missense	MNAT1	NM_001177963.1,NM_002431.3	43,43	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	155/268,155/310	61278748	2,13002	2203	4299	6502	SO:0001583	missense	0			X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"RING-type (C3HC4) zinc fingers", "General transcription factor IIH complex subunits"	7181	protein-coding gene	gene with protein product	"CDK-activating kinase assembly factor"	602659	"menage a trois 1 (CAK assembly factor)", "menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.464G>A	14.37:g.61278748G>A	ENSP00000261245:p.Arg155Gln		G3V1U8|Q15817|Q6ICQ7	Missense_Mutation	SNP	pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1/Tfb3	p.R155Q	ENST00000261245.4	37	c.464	CCDS9750.1	14	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417143	0.42918	4.54E-4	0.0	ENSG00000020426	ENST00000261245;ENST00000539616;ENST00000554002;ENST00000557134	T;T;T	0.42513	1.03;1.0;0.97	5.62	4.73	0.59995	Cdk-activating kinase assembly factor MAT1, centre (1);Ubiquitin interacting motif (1);	0.179966	0.49916	D	0.000127	T	0.16896	0.0406	N	0.02802	-0.49	0.33349	D	0.570796	B;B	0.22080	0.014;0.064	B;B	0.15484	0.003;0.013	T	0.20472	-1.0274	10	0.08179	T	0.78	-0.5286	10.7938	0.46449	0.147:0.0:0.853:0.0	.	155;155	G3V1U8;P51948	.;MAT1_HUMAN	Q	155;155;50;15	ENSP00000261245:R155Q;ENSP00000446437:R155Q;ENSP00000451017:R15Q	ENSP00000261245:R155Q	R	+	2	0	MNAT1	60348501	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.075000	0.64407	1.509000	0.48786	0.650000	0.86243	CGA	MNAT1	-	pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,pfscan_Ubiquitin-int_motif,tigrfam_MAT1/Tfb3	ENSG00000020426		0.343	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNAT1	HGNC	protein_coding	OTTHUMT00000276956.1	-	0	69	0	G	NM_002431		61278748	1	tier1	-	no_errors	ENST00000261245	ensembl	human	known	74_37	missense	6.54	100	7	SNP	0.998	A	A	61278748	G	A	61278748	3	1	181	1	0	0	0	0	1	0	0	0	9712	1058	37	1	482	1	MNAT1	14	61278748	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	1208781	61278748	46070792	177	45077											
RAB15	376267	genome.wustl.edu	37	chr14	65438753	65438753	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcccaccccggagtccccGatcagcagcagccggaacag	9	4	11	17	3	1	0	1	0	0	0	2	3	2	2	6	2	5	2	6	2	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:65438753G>A	ENST00000533601.2	-	1	379	c.42C>T	c.(40-42)atC>atT	p.I14I	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000267512.5_Silent_p.I14I|FNTB_ENST00000542227.1_Intron|RAB15_ENST00000436278.2_5'Flank			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	14					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)		CGGAGTCCCCGATCAGCAGCA	0.692																																																	0													55	42	46					14																	65438753		2203	4299	6502	SO:0001819	synonymous_variant	0			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.42C>T	14.37:g.65438753G>A			G5EMR7|Q86TX7|Q8IW89	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I14	ENST00000533601.2	37	c.42		14																																																																																			RAB15	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000139998		0.692	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	RAB15	HGNC	protein_coding	OTTHUMT00000390443.2	-	0	112	0	G	NM_198686		65438753	-1	tier1	-	no_errors	ENST00000533601	ensembl	human	known	74_37	silent	5.80	130	8	SNP	1.000	A	A	65438753	G	A	65438753	2	1	181	1	0	0	0	0	0	0	0	1	12946	1048	37	1		1	RAB15	14	65438753	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	4160005	65438753	41910787	178	45078											
ZNF410	57862	genome.wustl.edu	37	chr14	74371761	74371761	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttactacagctggaaacctGaagaaccaccggcgcatcca	13	7	8	13	2	0	2	0	1	0	1	1	3	1	3	4	2	5	2	4	2	5	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:74371761G>A	ENST00000555044.1	+	7	1082	c.888G>A	c.(886-888)ctG>ctA	p.L296L	RP5-1021I20.4_ENST00000556551.2_3'UTR|RP5-1021I20.6_ENST00000602874.1_RNA|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000334521.4_Silent_p.L243L|Y_RNA_ENST00000362602.1_RNA|ZNF410_ENST00000324593.6_Silent_p.L296L|ZNF410_ENST00000442160.3_Silent_p.L313L|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000540593.1_Silent_p.L223L	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	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)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CTGGAAACCTGAAGAACCACC	0.527																																																	0													105	92	96					14																	74371761		2203	4300	6503	SO:0001819	synonymous_variant	0			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.888G>A	14.37:g.74371761G>A			B4DDV5|B4DR78|O00153|Q9BQ19	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L296	ENST00000555044.1	37	c.888	CCDS9821.1	14																																																																																			ZNF410	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000119725		0.527	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	-	0	90	0	G	NM_021188		74371761	1	tier1	-	no_errors	ENST00000555044	ensembl	human	known	74_37	silent	8.96	122	12	SNP	1.000	A	A	74371761	G	A	74371761	2	1	181	1	0	0	0	0	0	0	0	1	17938	1277	45	3		3	ZNF410	14	74371761	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	8933008	74371761	32977779	179	45079											
WARS	7453	genome.wustl.edu	37	chr14	100801253	100801253	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccggggagtcatgaactCtttcactatctcatccgtga	8	13	8	12	2	4	2	3	2	2	0	7	3	6	3	2	2	1	0	2	2	2	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:100801253C>G	ENST00000355338.2	-	11	1993	c.1375G>C	c.(1375-1377)Gag>Cag	p.E459Q	WARS_ENST00000557135.1_Missense_Mutation_p.E459Q|WARS_ENST00000556645.1_Missense_Mutation_p.E418Q|WARS_ENST00000344102.5_Missense_Mutation_p.E418Q|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000392882.2_Missense_Mutation_p.E459Q|WARS_ENST00000358655.4_Missense_Mutation_p.E418Q	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	459					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GTCATGAACTCTTTCACTATC	0.488																																																	0													153	128	137					14																	100801253		2203	4300	6503	SO:0001583	missense	0			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1375G>C	14.37:g.100801253C>G	ENSP00000347495:p.Glu459Gln		A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase	p.E459Q	ENST00000355338.2	37	c.1375	CCDS9960.1	14	.	.	.	.	.	.	.	.	.	.	C	0.846	-0.740256	0.03088	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645	T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.22	3.29	0.37713	.	0.279509	0.40908	N	0.000997	T	0.48390	0.1497	N	0.05124	-0.11	0.33070	D	0.535281	B	0.11235	0.004	B	0.06405	0.002	T	0.48352	-0.9043	10	0.11485	T	0.65	-46.5748	17.0905	0.86620	0.0:0.6256:0.3744:0.0	.	459	P23381	SYWC_HUMAN	Q	459;418;459;418;459;418	ENSP00000376620:E459Q;ENSP00000351481:E418Q;ENSP00000347495:E459Q;ENSP00000339485:E418Q;ENSP00000451460:E459Q;ENSP00000451887:E418Q	ENSP00000339485:E418Q	E	-	1	0	WARS	99871006	1.000000	0.71417	0.899000	0.35326	0.037000	0.13140	3.933000	0.56545	1.350000	0.45770	-0.189000	0.12847	GAG	WARS	-	tigrfam_Trp-tRNA-ligase	ENSG00000140105		0.488	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WARS	HGNC	protein_coding	OTTHUMT00000414236.1	-	0	63	0	C	NM_004184		100801253	-1	tier1	-	no_errors	ENST00000355338	ensembl	human	known	74_37	missense	22.22	41	12	SNP	0.951	G	G	100801253	C	G	100801253	3	3	181	1	0	0	0	0	1	0	0	0	17298	922	32	5	44	5	WARS	14	100801253	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	26429492	100801253	6548287	180	45080											
AHNAK2	113146	genome.wustl.edu	37	chr14	105404547	105404547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcccgatcagttcaccCtcttccttctcttcagggga	7	11	8	15	1	5	0	3	0	2	0	7	2	6	1	3	3	0	1	3	3	0	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:105404547C>G	ENST00000333244.5	-	7	17360	c.17241G>C	c.(17239-17241)gaG>gaC	p.E5747D	AHNAK2_ENST00000557457.1_Missense_Mutation_p.E745D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5747						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)			TCAGTTCACCCTCTTCCTTCT	0.517																																																	0													50	52	51					14																	105404547		1945	4134	6079	SO:0001583	missense	0			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.17241G>C	14.37:g.105404547C>G	ENSP00000353114:p.Glu5747Asp		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E5747D	ENST00000333244.5	37	c.17241	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730617	0.48939	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03607	3.87;3.97	4.71	-9.42	0.00610	.	0.736341	0.11279	N	0.580576	T	0.03095	0.0091	L	0.48642	1.525	0.09310	N	1	P	0.40332	0.713	B	0.39562	0.303	T	0.02333	-1.1175	10	0.15499	T	0.54	.	11.4867	0.50358	0.0:0.56:0.349:0.091	.	5747	Q8IVF2	AHNK2_HUMAN	D	745;5747	ENSP00000450998:E745D;ENSP00000353114:E5747D	ENSP00000353114:E5747D	E	-	3	2	AHNAK2	104475592	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-4.847000	0.00178	-2.605000	0.00448	-0.469000	0.05056	GAG	AHNAK2	-	NULL	ENSG00000185567		0.517	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	85	0	C	NM_138420		105404547	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	10.48	94	11	SNP	0.000	G	G	105404547	C	G	105404547	3	3	181	1	0	0	0	0	1	0	0	0	415	680	24	5	150	5	AHNAK2	14	105404547	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	4603294	105404547	1944993	181	45081											
UBE3A	7337	genome.wustl.edu	37	chr15	25605546	25605546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaccaatatctggattgaaGatttcctccacaaccagctg	12	12	6	11	0	1	2	0	1	1	1	3	3	3	3	4	1	3	1	4	1	5	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:25605546G>C	ENST00000397954.2	-	5	1745	c.1746C>G	c.(1744-1746)atC>atG	p.I582M	UBE3A_ENST00000566215.1_Missense_Mutation_p.I559M|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.I559M|UBE3A_ENST00000232165.3_Missense_Mutation_p.I579M|UBE3A_ENST00000438097.1_Missense_Mutation_p.I559M			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	582					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTGGATTGAAGATTTCCTCCA	0.338																																																	0													113	102	106					15																	25605546		2203	4300	6503	SO:0001583	missense	0			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1746C>G	15.37:g.25605546G>C	ENSP00000381045:p.Ile582Met		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.I582M	ENST00000397954.2	37	c.1746	CCDS45192.1	15	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008623	0.54361	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.63	3.65	0.41850	HECT (4);	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	L	0.42632	1.34	0.58432	D	0.999999	P;D	0.69078	0.932;0.997	P;D	0.66602	0.653;0.945	T	0.56980	-0.7889	10	0.26408	T	0.33	.	7.4615	0.27298	0.1397:0.0:0.7252:0.1351	.	579;582	Q05086-3;Q05086	.;UBE3A_HUMAN	M	579;579;582;559;559	ENSP00000232165:I579M;ENSP00000381045:I582M;ENSP00000411258:I559M;ENSP00000401265:I559M	ENSP00000232165:I579M	I	-	3	3	UBE3A	23156639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.234000	0.32660	1.348000	0.45733	0.655000	0.94253	ATC	UBE3A	-	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	ENSG00000114062		0.338	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	HGNC	protein_coding	OTTHUMT00000434203.1	-	0	59	0	G	NM_000462		25605546	-1	tier1	-	no_errors	ENST00000397954	ensembl	human	known	74_37	missense	13.16	66	10	SNP	1.000	C	C	25605546	G	C	25605546	3	2	181	1	0	0	0	0	1	0	0	0	16928	932	33	5	909	5	UBE3A	15	25605546	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09		25605546	76925846	182	45082											
RYR3	6263	genome.wustl.edu	37	chr15	34064135	34064135	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcaggactgtcatgaagtCaggctcagagctggtgaagg	10	9	15	7	0	3	3	3	2	0	1	3	4	3	4	0	4	2	3	0	4	2	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:34064135C>G	ENST00000389232.4	+	63	8901	c.8831C>G	c.(8830-8832)tCa>tGa	p.S2944*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.S2944*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2944					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)		GTCATGAAGTCAGGCTCAGAG	0.448																																																	0													49	47	48					15																	34064135		1918	4144	6062	SO:0001587	stop_gained	0				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.8831C>G	15.37:g.34064135C>G	ENSP00000373884:p.Ser2944*		O15175|Q15412	Nonsense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S2944*	ENST00000389232.4	37	c.8831	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	51	17.847269	0.99894	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.64	5.64	0.86602	.	0.072889	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	.	.	.	X	2944	.	ENSP00000354735:S2944X	S	+	2	0	RYR3	31851427	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.892000	0.69790	2.937000	0.99478	0.650000	0.86243	TCA	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	70	0	C			34064135	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	nonsense	11.39	70	9	SNP	1.000	G	G	34064135	C	G	34064135	4	3	181	1	0	0	0	0	0	1	0	0	13815	838	29	5	9081	5	RYR3	15	34064135	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	8458589	34064135	68467257	183	45083											
THBS1	7057	genome.wustl.edu	37	chr15	39874123	39874123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcaccaaccgcattcCaggtgagtttgtgtggcacc	7	10	13	11	1	0	1	0	1	0	0	1	1	1	1	4	3	1	4	4	3	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:39874123C>T	ENST00000260356.5	+	2	230	c.65C>T	c.(64-66)cCa>cTa	p.P22L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	22					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)		AACCGCATTCCAGGTGAGTTT	0.607											OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													121	100	107					15																	39874123		2200	4297	6497	SO:0001583	missense	0				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.65C>T	15.37:g.39874123C>T	ENSP00000260356:p.Pro22Leu	889	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.P22L	ENST00000260356.5	37	c.65	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396407	0.62177	.	.	ENSG00000137801	ENST00000260356;ENST00000397591	T;T	0.76186	-1.0;0.99	4.94	4.94	0.65067	.	0.000000	0.34362	N	0.004027	T	0.59115	0.2170	N	0.14661	0.345	0.48632	D	0.999689	B	0.13594	0.008	B	0.14578	0.011	T	0.57797	-0.7749	10	0.52906	T	0.07	-6.745	13.5044	0.61476	0.0:1.0:0.0:0.0	.	22	P07996	TSP1_HUMAN	L	22	ENSP00000260356:P22L;ENSP00000380720:P22L	ENSP00000260356:P22L	P	+	2	0	THBS1	37661415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.407000	0.44565	2.559000	0.86315	0.591000	0.81541	CCA	THBS1	-	NULL	ENSG00000137801		0.607	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	-	0	28	0	C	NM_003246		39874123	1	tier1	-	no_errors	ENST00000260356	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	39874123	C	T	39874123	3	4	181	1	0	0	0	0	1	0	0	0	15900	594	21	3	67	3	THBS1	15	39874123	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	5809988	39874123	62657269	184	45084											
MGA	23269	genome.wustl.edu	37	chr15	42057139	42057139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaaccttgtgatgactccGcaagggcaattgctcaccct	9	9	9	14	1	1	2	1	2	0	0	2	2	2	2	4	1	2	3	4	1	3	2	rs372185993		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:42057139G>A	ENST00000570161.1	+	22	7800	c.7800G>A	c.(7798-7800)ccG>ccA	p.P2600P	MGA_ENST00000219905.7_Silent_p.P2600P|MGA_ENST00000389936.4_Silent_p.P2561P|MGA_ENST00000545763.1_Silent_p.P2391P|MGA_ENST00000566586.1_Silent_p.P2391P			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)	TGATGACTCCGCAAGGGCAAT	0.448																																																	0								G	,	0,4040		0,0,2020	118	121	120		7173,7800	-6.1	0.9	15		120	1,8371		0,1,4185	no	coding-synonymous,coding-synonymous	MGA	NM_001080541.2,NM_001164273.1	,	0,1,6205	AA,AG,GG		0.0119,0.0,0.0081	,	2391/2857,2600/3066	42057139	1,12411	2020	4186	6206	SO:0001819	synonymous_variant	0			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.7800G>A	15.37:g.42057139G>A			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.P2600	ENST00000570161.1	37	c.7800	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	61	0	G	NM_001164273.1		42057139	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	silent	35.44	51	28	SNP	0.609	A	A	42057139	G	A	42057139	2	1	181	1	0	0	0	0	0	0	0	1	9578	1074	38	1		1	MGA	15	42057139	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	2183016	42057139	60474253	185	45085											
PLA2G4F	255189	genome.wustl.edu	37	chr15	42444892	42444892	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcagactcaccgtactCttcccgtggggctgtcccat	6	10	10	15	2	2	2	1	1	1	1	4	2	4	2	3	2	2	3	3	2	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:42444892C>A	ENST00000382396.4	-	7	681	c.595G>T	c.(595-597)Gag>Tag	p.E199*	PLA2G4F_ENST00000397272.3_Nonsense_Mutation_p.E199*			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	199					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCACCGTACTCTTCCCGTGGG	0.607																																																	0													58	47	51					15																	42444892		2181	4265	6446	SO:0001587	stop_gained	0				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.595G>T	15.37:g.42444892C>A	ENSP00000371833:p.Glu199*		Q6ZMC8	Nonsense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.E199*	ENST00000382396.4	37	c.595	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727561	0.69074	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	.	.	.	5.21	3.34	0.38264	.	0.466822	0.19906	N	0.103408	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-10.0911	7.3471	0.26670	0.0:0.8099:0.0:0.1901	.	.	.	.	X	195;199;199;199;199	.	ENSP00000290497:E195X	E	-	1	0	PLA2G4F	40232184	0.000000	0.05858	0.030000	0.17652	0.183000	0.23260	-0.322000	0.08007	1.578000	0.49821	0.655000	0.94253	GAG	PLA2G4F	-	NULL	ENSG00000168907		0.607	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	-	0	72	0	C	NM_213600		42444892	-1	tier1	-	no_errors	ENST00000397272	ensembl	human	known	74_37	nonsense	12.00	66	9	SNP	0.010	A	A	42444892	C	A	42444892	4	1	181	1	0	0	0	0	0	1	0	0	12045	922	32	3	2010	3	PLA2G4F	15	42444892	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	387753	42444892	60086500	186	45086											
USP3	9960	genome.wustl.edu	37	chr15	63862741	63862741	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgctcagcaattctgcagGagaattctactctgtctgca	9	11	8	13	1	5	1	1	0	4	1	5	2	5	1	1	1	4	4	1	1	3	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:63862741G>T	ENST00000380324.3	+	9	1000	c.871G>T	c.(871-873)Gag>Tag	p.E291*	USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000559711.1_Nonsense_Mutation_p.E202*|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000558285.1_Nonsense_Mutation_p.E274*|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000268049.7_Nonsense_Mutation_p.E269*|USP3_ENST00000539772.1_Nonsense_Mutation_p.E42*|USP3_ENST00000540797.1_Nonsense_Mutation_p.E247*	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	291	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)		AATTCTGCAGGAGAATTCTAC	0.448																																																	0													130	123	125					15																	63862741		2203	4300	6503	SO:0001587	stop_gained	0			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.871G>T	15.37:g.63862741G>T	ENSP00000369681:p.Glu291*		B4DVU5|F5H1A6|Q8WVD0	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.E291*	ENST00000380324.3	37	c.871	CCDS32265.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.367877	0.97511	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	.	.	.	5.84	5.84	0.93424	.	0.206543	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.1216	0.97962	0.0:0.0:1.0:0.0	.	.	.	.	X	247;291;269;42;206;122	.	ENSP00000268049:E269X	E	+	1	0	USP3	61649794	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.383000	0.97214	2.762000	0.94881	0.563000	0.77884	GAG	USP3	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000140455		0.448	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP3	HGNC	protein_coding	OTTHUMT00000417773.1	-	0	71	0	G			63862741	1	tier1	-	no_errors	ENST00000380324	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T	T	63862741	G	T	63862741	4	4	181	1	0	0	0	0	0	1	0	0	17109	1175	41	3	905	3	USP3	15	63862741	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	21417849	63862741	38668651	187	45087											
AGBL1	123624	genome.wustl.edu	37	chr15	86822894	86822894	+	Silent	SNP	T	T	C	0	1	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	cattatcgccagagtacagcTgttgcaggcggagcatctgg	9	9	13	10	2	1	1	0	0	1	1	2	2	1	2	1	3	4	5	1	3	2	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:86822894T>C	ENST00000441037.2	+	15	2057	c.1962T>C	c.(1960-1962)gcT>gcC	p.A654A	AGBL1_ENST00000389298.3_Silent_p.A385A|AGBL1_ENST00000421325.2_Silent_p.A654A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	654					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						AGAGTACAGCTGTTGCAGGCG	0.522																																																	0													125	125	125					15																	86822894		2061	4208	6269	SO:0001819	synonymous_variant	0			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.1962T>C	15.37:g.86822894T>C			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.A654	ENST00000441037.2	37	c.1962	CCDS58398.1	15																																																																																			AGBL1	-	NULL	ENSG00000166748		0.522	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5		0	73	0	T	NM_152336		86822894	1			no_errors	ENST00000441037	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.006	C	C	86822894	T	C	86822894	2	2	181	1	0	0	0	0	0	0	0	1	375	1567	55	4		4	AGBL1	15	86822894	Silent	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	22960153	86822894	15708498	188	45088											
KIF7	374654	genome.wustl.edu	37	chr15	90176221	90176221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccacttcttctgctcctCaatcttctaaggaaaagtag	11	12	6	12	0	5	0	1	0	4	0	6	1	6	1	2	1	2	2	2	1	5	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:90176221C>G	ENST00000394412.3	-	14	2801	c.2725G>C	c.(2725-2727)Gag>Cag	p.E909Q		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	909					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCTGCTCCTCAATCTTCTAA	0.622																																																	0													27	25	26					15																	90176221		2200	4299	6499	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2725G>C	15.37:g.90176221C>G	ENSP00000377934:p.Glu909Gln		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E909Q	ENST00000394412.3	37	c.2725	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552408	0.65311	.	.	ENSG00000166813	ENST00000394412	T	0.48522	0.81	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.83275	0.811;0.996	T	0.63514	-0.6620	10	0.22109	T	0.4	.	17.9147	0.88945	0.0:1.0:0.0:0.0	.	395;909	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	Q	909	ENSP00000377934:E909Q	ENSP00000377934:E909Q	E	-	1	0	KIF7	87977225	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	5.985000	0.70556	2.306000	0.77630	0.462000	0.41574	GAG	KIF7	-	NULL	ENSG00000166813		0.622	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	-	0	70	0	C	NM_198525		90176221	-1	tier1	-	no_errors	ENST00000394412	ensembl	human	known	74_37	missense	22.73	49	15	SNP	1.000	G	G	90176221	C	G	90176221	3	3	181	1	0	0	0	0	1	0	0	0	8336	835	29	5	1330	5	KIF7	15	90176221	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	3353327	90176221	12355171	189	45089											
HBA2	3040	genome.wustl.edu	37	chr16	223305	223305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgcacgcgcacaagcttCgggtggacccggtcaacttc	8	7	11	15	4	1	0	1	0	0	0	3	1	1	1	2	3	3	3	2	3	2	2	rs281864876		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:223305C>T	ENST00000251595.6	+	2	343	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	HBA2_ENST00000397806.1_Missense_Mutation_p.R61W	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	93			R -> Q (in J-Cape Town; O(2) affinity up).|R -> W (in Cemenelum; O(2) affinity up). {ECO:0000269|PubMed:8148419}.		bicarbonate transport (GO:0015701)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of cell death (GO:0010942)|protein heterooligomerization (GO:0051291)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						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)			Iron Dextran(DB00893)|Mefloquine(DB00358)	GCACAAGCTTCGGGTGGACCC	0.692											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									GBM(107;1340 2104 14383 27419)												0													4	6	5					16																	223305		1844	4038	5882	SO:0001583	missense	0			BC008572	CCDS10398.1	16p13.3	2014-05-19			ENSG00000188536	ENSG00000188536			4824	protein-coding gene	gene with protein product		141850				6452630, 2649166	Standard	NM_000517		Approved	HBA-T2	uc002cfv.4	P69905	OTTHUMG00000059924	ENST00000251595.6:c.277C>T	16.37:g.223305C>T	ENSP00000251595:p.Arg93Trp	586	P01922|Q1HDT5|Q3MIF5|Q53F97|Q96KF1|Q9NYR7|Q9UCM0	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_a,prints_Haemoglobin_pi,pfscan_Globin	p.R93W	ENST00000251595.6	37	c.277	CCDS10398.1	16	.	.	.	.	.	.	.	.	.	.	c	14.82	2.648250	0.47258	.	.	ENSG00000188536	ENST00000251595;ENST00000534957;ENST00000397806	D;D	0.94280	-3.23;-3.39	4.22	3.16	0.36331	Globin-like (1);Globin, structural domain (1);	0.053379	0.64402	D	0.000005	D	0.96950	0.9004	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97012	0.9737	10	0.87932	D	0	-2.5941	12.5768	0.56367	0.2822:0.7177:0.0:0.0	rs34868036	93	P69905	HBA_HUMAN	W	93;61;61	ENSP00000251595:R93W;ENSP00000380908:R61W	ENSP00000251595:R93W	R	+	1	2	HBA2	163305	0.910000	0.30920	0.993000	0.49108	0.290000	0.27261	0.626000	0.24492	0.742000	0.32697	0.546000	0.68486	CGG	HBA2	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin	ENSG00000188536		0.692	HBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBA2	HGNC	protein_coding	OTTHUMT00000133194.1	-	0	88	0	C	NM_000517		223305	1	tier1	-	no_errors	ENST00000251595	ensembl	human	known	74_37	missense	11.63	76	10	SNP	0.961	T	T	223305	C	T	223305	3	4	181	1	0	0	0	0	1	0	0	0	7004	875	31	1	283	1	HBA2	16	223305	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09		223305	90131448	190	45090											
SOLH	6650	genome.wustl.edu	37	chr16	597619	597619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgcagccaccggtgcctGaggctgcccagccgtcaccc	6	5	12	18	2	1	1	1	1	0	0	1	1	1	1	6	2	6	3	6	2	0	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:597619G>A	ENST00000219611.2	+	4	1144	c.781G>A	c.(781-783)Gag>Aag	p.E261K	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	261					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)										ACCGGTGCCTGAGGCTGCCCA	0.731																																																	0													6	9	8					16																	597619		1799	3801	5600	SO:0001583	missense	0			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.781G>A	16.37:g.597619G>A	ENSP00000219611:p.Glu261Lys		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E261K	ENST00000219611.2	37	c.781	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	g	15.14	2.746104	0.49151	.	.	ENSG00000103326	ENST00000219611;ENST00000397687	D	0.88431	-2.38	4.91	4.91	0.64330	.	2.234190	0.01824	N	0.034229	D	0.84946	0.5585	L	0.29908	0.895	0.37884	D	0.930485	B	0.32245	0.361	B	0.30646	0.118	T	0.60831	-0.7185	10	0.09084	T	0.74	.	15.5781	0.76408	0.0:0.0:1.0:0.0	.	261	O75808	CAN15_HUMAN	K	261	ENSP00000219611:E261K	ENSP00000219611:E261K	E	+	1	0	SOLH	537620	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	8.483000	0.90442	2.282000	0.76494	0.556000	0.70494	GAG	CAPN15	-	NULL	ENSG00000103326		0.731	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	HGNC	protein_coding	OTTHUMT00000239271.1	-	0	41	0	G	NM_005632		597619	1	tier1	-	no_errors	ENST00000219611	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	A	A	597619	G	A	597619	3	1	181	1	0	0	0	0	1	0	0	0	14970	1291	45	3	783	3	SOLH	16	597619	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	374314	597619	89757134	191	45091											
GNPTG	84572	genome.wustl.edu	37	chr16	1412296	1412296	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgacgttcgagacccccctCgtctgccacccccacgcctt	5	8	7	21	4	1	2	0	1	1	1	3	3	1	2	7	0	1	1	7	0	0	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:1412296C>T	ENST00000204679.4	+	7	544	c.501C>T	c.(499-501)ctC>ctT	p.L167L	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	167					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGACCCCCCTCGTCTGCCACC	0.682																																																	0													34	33	33					16																	1412296		2198	4298	6496	SO:0001819	synonymous_variant	0			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"GlcNAc-phosphotransferase gamma-subunit"	607838	"N-acetylglucosamine-1-phosphotransferase, gamma subunit", "chromosome 16 open reading frame 27"	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.501C>T	16.37:g.1412296C>T			B2R556|Q6XYD7|Q96L13	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.L167	ENST00000204679.4	37	c.501	CCDS10436.1	16																																																																																			GNPTG	-	superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000090581		0.682	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTG	HGNC	protein_coding	OTTHUMT00000109058.2	-	0	113	0	C	NM_032520		1412296	1	tier1	-	no_errors	ENST00000204679	ensembl	human	known	74_37	silent	21.52	62	17	SNP	0.179	T	T	1412296	C	T	1412296	2	4	181	1	0	0	0	0	0	0	0	1	6572	871	31	1		1	GNPTG	16	1412296	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	814677	1412296	88942457	192	45092											
C16orf89	146556	genome.wustl.edu	37	chr16	5106102	5106102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaggcgtatccgatggcctCagctctgcggttcaagtcca	7	10	12	12	3	3	0	2	0	1	0	5	1	5	0	3	3	2	4	3	3	3	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:5106102C>T	ENST00000315997.5	-	5	916	c.715G>A	c.(715-717)Gag>Aag	p.E239K	C16orf89_ENST00000474471.3_Missense_Mutation_p.E239K|C16orf89_ENST00000472572.3_Missense_Mutation_p.E239K|C16orf89_ENST00000350219.4_Missense_Mutation_p.E277K|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.E277K	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	239						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCGATGGCCTCAGCTCTGCGG	0.577																																																	0													133	133	133					16																	5106102		2074	4223	6297	SO:0001583	missense	0				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.715G>A	16.37:g.5106102C>T	ENSP00000324672:p.Glu239Lys		B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	NULL	p.E277K	ENST00000315997.5	37	c.829	CCDS42116.2	16	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307064	0.40795	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.72	4.75	0.60458	.	0.356410	0.28635	N	0.014645	T	0.26448	0.0646	M	0.72894	2.215	0.30290	N	0.790473	B;P	0.41450	0.125;0.75	B;B	0.33690	0.028;0.168	T	0.27606	-1.0069	10	0.06625	T	0.88	-8.5939	12.5997	0.56491	0.0:0.8333:0.1667:0.0	.	239;277	Q6UX73;G3V0F0	CP089_HUMAN;.	K	239;239;239;277;277;239	ENSP00000417158:E239K;ENSP00000420566:E239K;ENSP00000390402:E277K;ENSP00000283478:E277K;ENSP00000324672:E239K	ENSP00000324672:E239K	E	-	1	0	C16orf89	5046103	0.958000	0.32768	0.699000	0.30290	0.448000	0.32197	4.169000	0.58223	1.379000	0.46325	0.591000	0.81541	GAG	C16orf89	-	NULL	ENSG00000153446		0.577	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1	-	0	87	0	C	NM_152459		5106102	-1	tier1	-	no_errors	ENST00000350219	ensembl	human	known	74_37	missense	30.91	37	17	SNP	0.774	T	T	5106102	C	T	5106102	3	4	181	1	0	0	0	0	1	0	0	0	1847	835	29	3	644	3	C16orf89	16	5106102	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	3693806	5106102	85248651	193	45093											
KIAA0430	9665	genome.wustl.edu	37	chr16	15714339	15714339	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatatctgtaaatttaaacaGaggcaggcaacaggcagggg	15	7	13	6	0	1	1	0	0	1	1	1	2	1	1	0	5	2	4	0	5	6	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:15714339G>A	ENST00000396368.3	-	13	2895	c.2689C>T	c.(2689-2691)Ctg>Ttg	p.L897L	KIAA0430_ENST00000602337.1_Silent_p.L894L|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000551742.1_Silent_p.L897L|KIAA0430_ENST00000540441.2_Silent_p.L732L|KIAA0430_ENST00000548025.1_Silent_p.L894L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	897	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AATTTAAACAGAGGCAGGCAA	0.373																																																	0													73	77	76					16																	15714339		1867	4103	5970	SO:0001819	synonymous_variant	0			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.2689C>T	16.37:g.15714339G>A			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.L897	ENST00000396368.3	37	c.2689	CCDS10562.2	16																																																																																			KIAA0430	-	NULL	ENSG00000166783		0.373	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	-	0	106	0	G	NM_014647		15714339	-1	tier1	-	no_errors	ENST00000396368	ensembl	human	known	74_37	silent	6.84	107	8	SNP	0.998	A	A	15714339	G	A	15714339	2	1	181	1	0	0	0	0	0	0	0	1	8204	933	33	3		3	KIAA0430	16	15714339	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	10608237	15714339	74640414	194	45094											
DNAH3	55567	genome.wustl.edu	37	chr16	21042473	21042473	+	Missense_Mutation	SNP	T	T	C	0	1	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	cagagagtgaagacgcttgcTcccggaaagcattggcaagg	12	6	14	9	2	0	3	0	1	0	2	1	5	1	4	1	3	2	4	1	3	3	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:21042473T>C	ENST00000261383.3	-	37	5332	c.5333A>G	c.(5332-5334)gAg>gGg	p.E1778G	DNAH3_ENST00000415178.1_Missense_Mutation_p.E1778G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1778	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|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)		AGACGCTTGCTCCCGGAAAGC	0.478																																																	0													156	124	135					16																	21042473		2201	4300	6501	SO:0001583	missense	0			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.5333A>G	16.37:g.21042473T>C	ENSP00000261383:p.Glu1778Gly		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.E1778G	ENST00000261383.3	37	c.5333	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	T	14.00	2.405825	0.42715	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.42513	0.97;0.97	5.71	5.71	0.89125	.	0.214575	0.39146	N	0.001443	T	0.43897	0.1268	M	0.75085	2.285	0.47547	D	0.999456	P	0.44986	0.847	B	0.39185	0.293	T	0.48658	-0.9016	10	0.44086	T	0.13	.	13.0584	0.58994	0.0:0.0:0.1337:0.8663	.	1778	Q8TD57	DYH3_HUMAN	G	1778	ENSP00000261383:E1778G;ENSP00000394245:E1778G	ENSP00000261383:E1778G	E	-	2	0	DNAH3	20949974	0.995000	0.38212	1.000000	0.80357	0.734000	0.41952	4.087000	0.57671	2.165000	0.68154	0.533000	0.62120	GAG	DNAH3	-	superfamily_P-loop_NTPase	ENSG00000158486		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	66	0	T	NM_017539		21042473	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	12.79	75	11	SNP	1.000	C	C	21042473	T	C	21042473	3	2	181	1	0	0	0	0	1	0	0	0	4617	1551	54	4	7120	4	DNAH3	16	21042473	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	5328134	21042473	69312280	195	45095											
ZKSCAN2	342357	genome.wustl.edu	37	chr16	25251879	25251879	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagacatcggctttccctgtCtaattccttgaagattttcc	8	15	7	11	1	1	3	0	1	1	2	5	4	4	3	3	1	0	1	3	1	2	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:25251879C>G	ENST00000328086.7	-	7	2965	c.2162G>C	c.(2161-2163)aGa>aCa	p.R721T	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	721					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)		CTTTCCCTGTCTAATTCCTTG	0.453																																																	0													109	98	102					16																	25251879		2197	4300	6497	SO:0001583	missense	0			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.2162G>C	16.37:g.25251879C>G	ENSP00000331626:p.Arg721Thr		A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R721T	ENST00000328086.7	37	c.2162	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115382	0.37339	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.07567	3.18	5.41	4.46	0.54185	.	0.083149	0.52532	D	0.000070	T	0.17023	0.0409	M	0.72353	2.195	0.34509	D	0.706921	D;P	0.53619	0.961;0.799	P;B	0.49637	0.617;0.343	T	0.27673	-1.0067	10	0.52906	T	0.07	-24.6587	11.965	0.53029	0.0:0.9171:0.0:0.0829	.	517;721	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	T	721	ENSP00000331626:R721T	ENSP00000331626:R721T	R	-	2	0	ZKSCAN2	25159380	0.000000	0.05858	0.961000	0.40146	0.011000	0.07611	0.768000	0.26590	1.533000	0.49186	-0.140000	0.14226	AGA	ZKSCAN2	-	NULL	ENSG00000155592		0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	-	0	56	0	C	NM_001012981		25251879	-1	tier1	-	no_errors	ENST00000328086	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.906	G	G	25251879	C	G	25251879	3	3	181	1	0	0	0	0	1	0	0	0	17735	913	32	5	745	5	ZKSCAN2	16	25251879	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	4209406	25251879	65102874	196	45096											
FAM65A	79567	genome.wustl.edu	37	chr16	67577114	67577114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgactaccgtggccagtttCctgagctgcagggcctggag	7	9	14	11	1	0	2	0	2	0	0	1	3	1	3	4	3	3	3	4	3	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:67577114C>T	ENST00000379312.3	+	13	2558	c.2437C>T	c.(2437-2439)Cct>Tct	p.P813S	FAM65A_ENST00000422602.2_Missense_Mutation_p.P829S|FAM65A_ENST00000540839.3_Missense_Mutation_p.P829S|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.P809S|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.P823S	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	813						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGGCCAGTTTCCTGAGCTGCA	0.672																																																	0													14	13	13					16																	67577114		2195	4294	6489	SO:0001583	missense	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2437C>T	16.37:g.67577114C>T	ENSP00000368614:p.Pro813Ser		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.P829S	ENST00000379312.3	37	c.2485	CCDS54028.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.934034|3.934034	0.73442|0.73442	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|T	0.38887|0.42131	1.11;1.11;1.11|0.98	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58148|0.58148	0.2102|0.2102	M|M	0.72894|0.72894	2.215|2.215	0.34837|0.34837	D|D	0.740282|0.740282	P;P;P;P|.	0.48503|.	0.899;0.899;0.899;0.911|.	P;P;P;B|.	0.54060|.	0.741;0.741;0.741;0.339|.	T|T	0.67665|0.67665	-0.5612|-0.5612	10|6	0.66056|.	D|.	0.02|.	-14.6497|-14.6497	15.778|15.778	0.78240|0.78240	0.1366:0.8634:0.0:0.0|0.1366:0.8634:0.0:0.0	.|.	823;829;813;829|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	S|F	813;809;829;823|803	ENSP00000368614:P813S;ENSP00000042381:P809S;ENSP00000400099:P829S|ENSP00000389456:S803F	ENSP00000042381:P809S|.	P|S	+|+	1|2	0|0	FAM65A|FAM65A	66134615|66134615	0.996000|0.996000	0.38824|0.38824	0.941000|0.941000	0.38009|0.38009	0.941000|0.941000	0.58515|0.58515	3.625000|3.625000	0.54238|0.54238	2.624000|2.624000	0.88883|0.88883	0.555000|0.555000	0.69702|0.69702	CCT|TCC	FAM65A	-	NULL	ENSG00000039523		0.672	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3	-	0	200	0	C	NM_024519		67577114	1	tier1	-	no_errors	ENST00000422602	ensembl	human	known	74_37	missense	17.81	180	39	SNP	0.991	T	T	67577114	C	T	67577114	3	4	181	1	0	0	0	0	1	0	0	0	5621	855	30	3	2471	3	FAM65A	16	67577114	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	42325235	67577114	22777639	197	45097											
AARS	16	genome.wustl.edu	37	chr16	70316635	70316635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatctataaatcgctgcCggatttcacttgctgttaga	12	13	8	8	2	2	2	1	0	1	2	3	3	2	3	1	1	2	3	1	1	5	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:70316635C>T	ENST00000261772.8	-	2	175	c.32G>A	c.(31-33)cGg>cAg	p.R11Q		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)		AAATCGCTGCCGGATTTCACT	0.408																																																	0													142	136	138					16																	70316635		2198	4300	6498	SO:0001583	missense	0			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.32G>A	16.37:g.70316635C>T	ENSP00000261772:p.Arg11Gln			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.R11Q	ENST00000261772.8	37	c.32	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.813160	0.96975	.	.	ENSG00000090861	ENST00000261772	T	0.79247	-1.25	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	0.93019	0.7778	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95445	0.8529	10	0.87932	D	0	-17.2969	17.027	0.86450	0.0:1.0:0.0:0.0	.	11	P49588	SYAC_HUMAN	Q	11	ENSP00000261772:R11Q	ENSP00000261772:R11Q	R	-	2	0	AARS	68874136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.584000	0.82572	2.608000	0.88229	0.591000	0.81541	CGG	AARS	-	pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000090861		0.408	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2		0	59	0	C	NM_001605		70316635	-1			no_errors	ENST00000261772	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	70316635	C	T	70316635	3	4	181	1	0	0	0	0	1	0	0	0	19	652	23	1	2954	1	AARS	16	70316635	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2739521	70316635	20038118	198	45098											
VAC14	55697	genome.wustl.edu	37	chr16	70796488	70796488	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcagtaggatgggaaagagGctgtccgtgtgccggaacat	10	8	16	7	2	0	1	0	0	0	1	1	4	1	4	2	4	3	3	2	4	3	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:70796488G>A	ENST00000261776.5	-	12	1586	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	VAC14-AS1_ENST00000562507.1_RNA|VAC14-AS1_ENST00000398177.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	442					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGGGAAAGAGGCTGTCCGTGT	0.607																																																	0													143	89	108					16																	70796488		2198	4300	6498	SO:0001819	synonymous_variant	0			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1326C>T	16.37:g.70796488G>A			B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.A186V	ENST00000261776.5	37	c.557	CCDS10896.1	16																																																																																			VAC14	-	NULL	ENSG00000103043		0.607	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	-	0	83	0	G	NM_018052		70796488	-1	tier1	-	no_errors	ENST00000568886	ensembl	human	known	74_37	missense	23.81	48	15	SNP	1.000	A	A	70796488	G	A	70796488	2	1	181	1	0	0	0	0	0	0	0	1	17160	1194	42	3		3	VAC14	16	70796488	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	479853	70796488	19558265	199	45099											
ANKRD11	29123	genome.wustl.edu	37	chr16	89348761	89348762	+	Silent	DNP	GG	GG	AA																															tccgtaagcatccgcctccaGgaagtccttttcgtactggc																										TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:89348761_89348762GG>AA	ENST00000301030.4	-	9	4648_4649	c.4188_4189CC>TT	c.(4186-4191)ttCCtg>ttTTtg	p.1396_1397FL>FL	ANKRD11_ENST00000378330.2_Silent_p.1396_1397FL>FL	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1396	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)		TCCGCCTCCAGGAAGTCCTTTT	0.46																																																	0																																										SO:0001819	synonymous_variant	0			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.4188_4189delinsAA	16.37:g.89348761_89348762delinsAA			Q6NTG1|Q6QMF8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L1397|p.F1396	ENST00000301030.4	37	c.4189|c.4188	CCDS32513.1	16																																																																																			ANKRD11	-	NULL	ENSG00000167522		0.46	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	-	0	24|25	0	G	NM_013275		89348761|89348762	-1	tier1	-	no_errors	ENST00000301030	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.230|0.618	A	AA	89348762	GG	AA	89348761	2	1	181	1	0	0	0	0	0	0	0	1	639	991	35	3		3	ANKRD11	16	89348761	Silent	DNP	GG	TCGA-Z6-A8JD-01A-11D-A36J-09	18552273	89348761	1005992	200	45100											
ANKRD11	29123	genome.wustl.edu	37	chr16	89348979	89348979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccaggtggctccgtgaaaGagacctccaggaaggcagtc	10	6	13	12	1	0	2	0	1	0	1	4	4	3	3	4	4	0	2	4	4	2	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:89348979G>C	ENST00000301030.4	-	9	4431	c.3971C>G	c.(3970-3972)tCt>tGt	p.S1324C	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1324C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1324	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)		CTCCGTGAAAGAGACCTCCAG	0.582																																																	0													38	39	39					16																	89348979		2198	4299	6497	SO:0001583	missense	0			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.3971C>G	16.37:g.89348979G>C	ENSP00000301030:p.Ser1324Cys		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S1324C	ENST00000301030.4	37	c.3971	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741864	0.30865	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.51325	0.71;0.71	5.21	5.21	0.72293	.	0.484210	0.22246	N	0.062606	T	0.64316	0.2587	M	0.67953	2.075	0.53688	D	0.999974	D	0.71674	0.998	P	0.57324	0.818	T	0.68062	-0.5508	10	0.87932	D	0	.	18.7133	0.91666	0.0:0.0:1.0:0.0	.	1324	Q6UB99	ANR11_HUMAN	C	1324	ENSP00000301030:S1324C;ENSP00000367581:S1324C	ENSP00000301030:S1324C	S	-	2	0	ANKRD11	87876480	0.998000	0.40836	0.044000	0.18714	0.062000	0.15995	5.689000	0.68234	2.577000	0.86979	0.563000	0.77884	TCT	ANKRD11	-	NULL	ENSG00000167522		0.582	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	-	0	40	0	G	NM_013275		89348979	-1	tier1	-	no_errors	ENST00000301030	ensembl	human	known	74_37	missense	15.79	48	9	SNP	0.033	C	C	89348979	G	C	89348979	3	2	181	1	0	0	0	0	1	0	0	0	639	942	33	5	4040	5	ANKRD11	16	89348979	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	218	89348979	1005774	201	45101											
RNF167	26001	genome.wustl.edu	37	chr17	4846563	4846563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgggactgctggttttggCcatgggagcagtaatggtga	7	12	17	5	0	0	1	0	1	0	0	0	3	0	3	1	5	2	4	1	5	1	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:4846563C>T	ENST00000262482.6	+	7	1216	c.560C>T	c.(559-561)gCc>gTc	p.A187V	RNF167_ENST00000570492.1_Intron|RNF167_ENST00000572430.1_Missense_Mutation_p.A187V|RNF167_ENST00000575111.1_Missense_Mutation_p.A187V|RNF167_ENST00000576229.1_Missense_Mutation_p.A152V|RNF167_ENST00000571816.1_Missense_Mutation_p.A187V	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	187					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						CTGGTTTTGGCCATGGGAGCA	0.552																																																	0													83	72	75					17																	4846563		2203	4300	6503	SO:0001583	missense	0			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.560C>T	17.37:g.4846563C>T	ENSP00000262482:p.Ala187Val		D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.A187V	ENST00000262482.6	37	c.560	CCDS11060.1	17	.	.	.	.	.	.	.	.	.	.	C	4.222	0.039981	0.08148	.	.	ENSG00000108523	ENST00000262482	T	0.03330	3.97	5.8	4.83	0.62350	.	0.056382	0.64402	D	0.000001	T	0.01523	0.0049	N	0.02181	-0.65	0.38650	D	0.95182	B	0.11235	0.004	B	0.12156	0.007	T	0.49409	-0.8943	10	0.11182	T	0.66	-1.1385	8.2764	0.31874	0.0:0.7594:0.1588:0.0818	.	187	Q9H6Y7	RN167_HUMAN	V	187	ENSP00000262482:A187V	ENSP00000262482:A187V	A	+	2	0	RNF167	4787308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.010000	0.57117	1.447000	0.47661	0.563000	0.77884	GCC	RNF167	-	NULL	ENSG00000108523		0.552	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF167	HGNC	protein_coding	OTTHUMT00000216854.3	-	0	86	0	C	NM_015528		4846563	1	tier1	-	no_errors	ENST00000262482	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	4846563	C	T	4846563	3	4	181	1	0	0	0	0	1	0	0	0	13503	739	26	3	582	3	RNF167	17	4846563	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09		4846563	76348647	202	45102											
ALOX12	239	genome.wustl.edu	37	chr17	6909289	6909289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgaccggggcctgctggGactcccaggtgctctctatg	4	9	15	13	1	1	1	0	1	1	0	3	2	2	2	3	5	2	3	3	5	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:6909289G>A	ENST00000251535.6	+	10	1414	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	454	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						GGCCTGCTGGGACTCCCAGGT	0.642																																																	0													62	61	62					17																	6909289		2203	4300	6503	SO:0001583	missense	0			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.1361G>A	17.37:g.6909289G>A	ENSP00000251535:p.Gly454Glu		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.G454E	ENST00000251535.6	37	c.1361	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152131	0.38021	.	.	ENSG00000108839	ENST00000251535	T	0.06528	3.29	5.3	4.31	0.51392	Lipoxygenase, C-terminal (3);	0.326098	0.32640	N	0.005830	T	0.08891	0.0220	M	0.64630	1.985	0.29504	N	0.854721	B	0.15930	0.015	B	0.21360	0.034	T	0.02596	-1.1136	10	0.30078	T	0.28	-1.4764	12.2023	0.54333	0.085:0.0:0.9149:0.0	.	454	P18054	LOX12_HUMAN	E	454	ENSP00000251535:G454E	ENSP00000251535:G454E	G	+	2	0	ALOX12	6850013	0.751000	0.28327	1.000000	0.80357	0.933000	0.57130	0.686000	0.25392	2.763000	0.94921	0.585000	0.79938	GGA	ALOX12	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000108839		0.642	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	-	0	85	0	G			6909289	1	tier1	-	no_errors	ENST00000251535	ensembl	human	known	74_37	missense	10.64	84	10	SNP	0.981	A	A	6909289	G	A	6909289	3	1	181	1	0	0	0	0	1	0	0	0	536	1174	41	3	1399	3	ALOX12	17	6909289	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	2062726	6909289	74285921	203	45103											
TP53	7157	genome.wustl.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	0	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	GMAF=0.0005	0	48	0	C	NM_000546		7577120	-1	tier1	rs28934576	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	23.40	36	11	SNP	0.864	T	T	7577120	C	T	7577120	3	4	181	1	0	0	0	0	1	0	0	0	16429	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	667831	7577120	73618090	204	45104											
ZNF624	57547	genome.wustl.edu	37	chr17	16527278	16527278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgaatgttttcccacattCattacattcataaggttttt	10	18	5	8	0	2	1	2	1	0	0	3	1	3	1	1	1	1	3	1	1	3	8			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:16527278C>T	ENST00000311331.7	-	6	1013	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	308					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)		TTCCCACATTCATTACATTCA	0.358																																					NSCLC(186;1023 2134 13330 38202 39800)												0													102	104	103					17																	16527278		2203	4300	6503	SO:0001583	missense	0			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.922G>A	17.37:g.16527278C>T	ENSP00000310472:p.Glu308Lys		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E308K	ENST00000311331.7	37	c.922	CCDS11180.1	17	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490305	0.44249	.	.	ENSG00000197566	ENST00000311331	T	0.07327	3.2	3.32	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	N	0.26130	0.795	0.19945	N	0.999945	B	0.15141	0.012	B	0.22753	0.041	T	0.32241	-0.9914	9	0.59425	D	0.04	.	10.5558	0.45117	0.0:0.8013:0.1987:0.0	.	308	Q9P2J8	ZN624_HUMAN	K	308	ENSP00000310472:E308K	ENSP00000310472:E308K	E	-	1	0	ZNF624	16468003	0.000000	0.05858	0.972000	0.41901	0.983000	0.72400	0.156000	0.16382	0.760000	0.33108	-0.216000	0.12614	GAA	ZNF624	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197566		0.358	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF624	HGNC	protein_coding	OTTHUMT00000130512.3	-	0	67	0	C	XM_047617		16527278	-1	tier1	-	no_errors	ENST00000311331	ensembl	human	known	74_37	missense	14.71	58	10	SNP	0.485	T	T	16527278	C	T	16527278	3	4	181	1	0	0	0	0	1	0	0	0	18096	835	29	3	1679	3	ZNF624	17	16527278	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	8950158	16527278	64667932	205	45105											
C17orf42	79736	genome.wustl.edu	37	chr17	29231387	29231387	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgctgttctgaagagaaGagcttgtcaagtgcattttc	9	13	11	8	0	2	3	1	1	1	2	3	4	2	3	1	0	3	4	1	0	3	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:29231387G>C	ENST00000581216.1	-	2	813	c.192C>G	c.(190-192)ctC>ctG	p.L64L	TEFM_ENST00000580840.1_Silent_p.L64L	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	64					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										CTGAAGAGAAGAGCTTGTCAA	0.413																																																	0													74	71	72					17																	29231387		1858	4102	5960	SO:0001819	synonymous_variant	0				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 42"	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.192C>G	17.37:g.29231387G>C			E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Silent	SNP	superfamily_RNaseH-like_dom	p.L64	ENST00000581216.1	37	c.192	CCDS42291.1	17																																																																																			TEFM	-	NULL	ENSG00000172171		0.413	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEFM	HGNC	protein_coding	OTTHUMT00000444498.1	-	0	57	0	G	NM_024683		29231387	-1	tier1	-	no_errors	ENST00000581216	ensembl	human	known	74_37	silent	7.81	59	5	SNP	0.984	C	C	29231387	G	C	29231387	2	2	181	1	0	0	0	0	0	0	0	1	1862	929	33	5		5	C17orf42	17	29231387	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	12704109	29231387	51963823	206	45106											
MED1	5469	genome.wustl.edu	37	chr17	37604113	37604113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttggttaaattttgcatGgagccgttccaggagagaac	11	13	11	6	1	0	1	0	0	0	1	1	4	1	3	2	3	3	3	2	3	3	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:37604113G>T	ENST00000394287.3	-	2	275	c.70C>A	c.(70-72)Cat>Aat	p.H24N	MED1_ENST00000300651.6_Missense_Mutation_p.H24N			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)		AATTTTGCATGGAGCCGTTCC	0.398										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													155	140	145					17																	37604113		2203	4300	6503	SO:0001583	missense	0			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.70C>A	17.37:g.37604113G>T	ENSP00000377828:p.His24Asn		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.H24N	ENST00000394287.3	37	c.70		17	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647379	0.47258	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.34472	1.36	5.65	5.65	0.86999	.	.	.	.	.	T	0.49064	0.1535	N	0.24115	0.695	0.46149	D	0.998899	D;D	0.67145	0.981;0.996	D;D	0.76071	0.954;0.987	T	0.50457	-0.8826	9	0.59425	D	0.04	-8.6454	19.3898	0.94576	0.0:0.0:1.0:0.0	.	24;24	Q15648;Q15648-3	MED1_HUMAN;.	N	24	ENSP00000300651:H24N	ENSP00000300651:H24N	H	-	1	0	MED1	34857639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.885000	0.87282	2.679000	0.91253	0.558000	0.71614	CAT	MED1	-	NULL	ENSG00000125686		0.398	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1		0	58	0	G	NM_004774		37604113	-1			no_errors	ENST00000300651	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	37604113	G	T	37604113	3	4	181	1	0	0	0	0	1	0	0	0	9463	1348	47	3	4739	3	MED1	17	37604113	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	8372726	37604113	43591097	207	45107											
THRA	7067	genome.wustl.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	10	7	7	17	2	1	2	0	0	1	2	4	2	3	2	6	1	1	2	6	1	3	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																																	2	Substitution - Missense(2)	kidney(2)											145	129	134					17																	38240101		2203	4300	6503	SO:0001583	missense	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R79H	ENST00000264637.4	37	c.236	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC	THRA	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Znf_hrmn_rcpt	ENSG00000126351		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2		0	58	0	G			38240101	1			no_errors	ENST00000264637	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	A	A	38240101	G	A	38240101	3	1	181	1	0	0	0	0	1	0	0	0	15920	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	635988	38240101	42955109	208	45108											
MAP3K14	100133991	genome.wustl.edu	37	chr17	43344462	43344465	+	RNA	DEL	CTCA	CTCA	-																															ggccacaaccgactcaccttCtcactgtcatccgacaggga																										TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	CTCA	CTCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:43344462_43344465delCTCA	ENST00000585780.1	+	0	1615				MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA					MAP3K14 antisense RNA 1																		GACTCACCTTCTCACTGTCATCCG	0.569																																																	0																																												0			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"Long non-coding RNAs"	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43344462_43344465delCTCA				RNA	DEL	-	NULL	ENST00000585780.1	37	NULL		17																																																																																			MAP3K14	-	-	ENSG00000006062		0.569	MAP3K14-AS1-008	KNOWN	basic	antisense	MAP3K14	HGNC	antisense	OTTHUMT00000450941.1		0	66	0	CTCA	NR_024434		43344465	-1	tier1		no_errors	ENST00000344686	ensembl	human	known	74_37	rna	10.87	41	5	DEL	1.000:1.000:1.000:0.997	-	-	43344465	CTCA	-	43344462	6	5	181	0	1	1	0	1	0	0	0	0	9286	912	32	0		0	MAP3K14	17	43344462	RNA	DEL	CTCA	TCGA-Z6-A8JD-01A-11D-A36J-09	5104361	43344462	37850748	209	45109											
HOXB7	3217	genome.wustl.edu	37	chr17	46687889	46687889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcggcgttacctgagcttCgcatccaggggtagatccgg	6	8	15	12	5	0	2	0	1	0	1	3	2	2	2	3	4	2	4	3	4	2	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:46687889C>T	ENST00000239165.7	-	1	490	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	HOXB7_ENST00000567101.2_Intron	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	131					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						ACCTGAGCTTCGCATCCAGGG	0.701																																																	0													8	10	9					17																	46687889		2072	4093	6165	SO:0001583	missense	0				CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	5118	protein-coding gene	gene with protein product		142962	"homeo box B7"	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.392G>A	17.37:g.46687889C>T	ENSP00000239165:p.Arg131Gln		A8K3N8|Q15957|Q53FN3|Q96BQ6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.R131Q	ENST00000239165.7	37	c.392	CCDS11532.1	17	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454583	0.84209	.	.	ENSG00000120087	ENST00000239165	D	0.95588	-3.75	4.13	4.13	0.48395	Homeodomain-related (1);Homeobox protein, antennapedia type, conserved site (1);	0.143609	0.41500	D	0.000879	D	0.95812	0.8637	L	0.52364	1.645	0.54753	D	0.999987	D	0.67145	0.996	P	0.58266	0.836	D	0.95568	0.8635	10	0.48119	T	0.1	.	15.1164	0.72407	0.0:1.0:0.0:0.0	.	131	P09629	HXB7_HUMAN	Q	131	ENSP00000239165:R131Q	ENSP00000239165:R131Q	R	-	2	0	HOXB7	44042888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.138000	0.77305	2.143000	0.66587	0.561000	0.74099	CGA	HOXB7	-	prints_Homeobox_antennapedia	ENSG00000260027		0.701	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB7	HGNC	protein_coding	OTTHUMT00000358097.3	-	0	127	0	C			46687889	-1	tier1	-	no_errors	ENST00000239165	ensembl	human	known	74_37	missense	7.55	98	8	SNP	1.000	T	T	46687889	C	T	46687889	3	4	181	1	0	0	0	0	1	0	0	0	7333	884	31	1	269	1	HOXB7	17	46687889	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	3343427	46687889	34507321	210	45110											
IGF2BP1	10642	genome.wustl.edu	37	chr17	47103868	47103868	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtatggtacagtagagaActgtgagcaaggtaagagtg	14	9	14	4	0	1	3	1	1	0	2	1	4	1	3	0	2	3	5	0	2	6	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:47103868A>G	ENST00000290341.3	+	4	660	c.326A>G	c.(325-327)aAc>aGc	p.N109S	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.N109S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	109	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAGTAGAGAACTGTGAGCAA	0.512																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													134	118	123					17																	47103868		2203	4300	6503	SO:0001583	missense	0			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.326A>G	17.37:g.47103868A>G	ENSP00000290341:p.Asn109Ser		C9JT33	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.N109S	ENST00000290341.3	37	c.326	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	A	10.77	1.445370	0.25987	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.13901	2.55;3.54	5.7	3.06	0.35304	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.098800	0.64402	N	0.000002	T	0.07052	0.0179	N	0.12471	0.22	0.18873	N	0.999989	B;B	0.16396	0.001;0.017	B;B	0.24006	0.0;0.05	T	0.39251	-0.9623	10	0.18276	T	0.48	-27.6286	8.2802	0.31896	0.7978:0.0:0.2022:0.0	.	109;109	C9JT33;Q9NZI8	.;IF2B1_HUMAN	S	109	ENSP00000290341:N109S;ENSP00000389135:N109S	ENSP00000290341:N109S	N	+	2	0	IGF2BP1	44458867	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.196000	0.32198	0.948000	0.37687	-0.408000	0.06270	AAC	IGF2BP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000159217		0.512	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	-	0	84	0	A	NM_006546		47103868	1	tier1	-	no_errors	ENST00000290341	ensembl	human	known	74_37	missense	25.95	97	34	SNP	1.000	G	G	47103868	A	G	47103868	3	3	181	1	0	0	0	0	1	0	0	0	7600	43	2	4	340	4	IGF2BP1	17	47103868	Missense_Mutation	SNP	A	TCGA-Z6-A8JD-01A-11D-A36J-09	415979	47103868	34091342	211	45111											
NAT9	26151	genome.wustl.edu	37	chr17	72769777	72769777	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagggtcagcggctccGaggctgtcaaacgctgcagc	7	6	14	14	3	2	0	2	0	0	0	4	1	4	0	2	3	4	5	2	3	1	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:72769777G>T	ENST00000357814.3	-	3	201	c.128C>A	c.(127-129)tCg>tAg	p.S43*	NAT9_ENST00000582870.1_Nonsense_Mutation_p.S47*|NAT9_ENST00000581136.1_Nonsense_Mutation_p.S43*|NAT9_ENST00000580632.1_Nonsense_Mutation_p.S42*|NAT9_ENST00000580301.1_Nonsense_Mutation_p.S42*|TMEM104_ENST00000335464.5_5'Flank|TMEM104_ENST00000582773.1_5'Flank|NAT9_ENST00000578822.1_Nonsense_Mutation_p.S48*|TMEM104_ENST00000582330.1_5'Flank|NAT9_ENST00000582524.1_Nonsense_Mutation_p.S43*|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000583476.1_Nonsense_Mutation_p.S43*|TMEM104_ENST00000417024.2_5'Flank|NAT9_ENST00000583757.1_Nonsense_Mutation_p.S42*	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	43	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						CAGCGGCTCCGAGGCTGTCAA	0.587																																																	0													110	101	104					17																	72769777		2203	4300	6503	SO:0001587	stop_gained	0			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.128C>A	17.37:g.72769777G>T	ENSP00000350467:p.Ser43*		B2R7F0|Q9BTD0|Q9Y3T3	Nonsense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.S43*	ENST00000357814.3	37	c.128	CCDS11706.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.282043	0.95489	.	.	ENSG00000109065	ENST00000357814	.	.	.	4.87	4.87	0.63330	.	0.072630	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0843	18.3781	0.90441	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000350467:S43X	S	-	2	0	NAT9	70281372	1.000000	0.71417	0.941000	0.38009	0.941000	0.58515	9.772000	0.98984	2.406000	0.81754	0.313000	0.20887	TCG	NAT9	-	superfamily_Acyl_CoA_acyltransferase	ENSG00000109065		0.587	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	-	0	67	0	G	NM_015654		72769777	-1	tier1	-	no_errors	ENST00000357814	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T	T	72769777	G	T	72769777	4	4	181	1	0	0	0	0	0	1	0	0	10220	1059	37	2	515	2	NAT9	17	72769777	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	25665909	72769777	8425433	212	45112											
CASKIN2	57513	genome.wustl.edu	37	chr17	73497977	73497977	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcggcactggaggctGcatggcggggctgggagcaa	7	4	21	9	2	0	0	0	0	0	0	0	2	0	2	0	8	2	6	0	8	1	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:73497977G>A	ENST00000321617.3	-	18	3764	c.3178C>T	c.(3178-3180)Cag>Tag	p.Q1060*	CASKIN2_ENST00000433559.2_Nonsense_Mutation_p.Q978*	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1060	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGAGGCTGCATGGCGGGG	0.682																																																	0													38	49	45					17																	73497977		2201	4293	6494	SO:0001587	stop_gained	0			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.3178C>T	17.37:g.73497977G>A	ENSP00000325355:p.Gln1060*		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.Q1060*	ENST00000321617.3	37	c.3178	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	G	43	10.206472	0.99359	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	.	.	.	5.17	3.09	0.35607	.	0.712981	0.12102	N	0.499395	.	.	.	.	.	.	0.23708	N	0.99706	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	12.749	0.57298	0.0:0.2431:0.7569:0.0	.	.	.	.	X	1060;978	.	ENSP00000325355:Q1060X	Q	-	1	0	CASKIN2	71009572	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	0.175000	0.16762	0.720000	0.32209	0.591000	0.81541	CAG	CASKIN2	-	NULL	ENSG00000177303		0.682	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	-	0	62	0	G	NM_020753		73497977	-1	tier1	-	no_errors	ENST00000321617	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	0.016	A	A	73497977	G	A	73497977	4	1	181	1	0	0	0	0	0	1	0	0	2674	1328	46	3	442	3	CASKIN2	17	73497977	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	728200	73497977	7697233	213	45113											
UNC13D	201294	genome.wustl.edu	37	chr17	73827202	73827202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggtggcagtgtgcagggCcttgggtggcaggccacagc	7	6	19	9	0	0	0	0	0	0	0	0	1	0	0	2	6	2	3	2	6	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:73827202C>T	ENST00000207549.4	-	27	2981	c.2602G>A	c.(2602-2604)Gcc>Acc	p.A868T	UNC13D_ENST00000412096.2_Missense_Mutation_p.A868T	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	868	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)			GTGTGCAGGGCCTTGGGTGGC	0.617									Familial Hemophagocytic Lymphohistiocytosis																																								0													65	65	65					17																	73827202		2203	4299	6502	SO:0001583	missense	0	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.2602G>A	17.37:g.73827202C>T	ENSP00000207549:p.Ala868Thr		B4DWG9|Q9H7K5	Missense_Mutation	SNP	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A868T	ENST00000207549.4	37	c.2602	CCDS11730.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.797|0.797	-0.756636|-0.756636	0.03019|0.03019	.|.	.|.	ENSG00000092929|ENSG00000092929	ENST00000448606|ENST00000207549;ENST00000412096	.|T;T	.|0.73789	.|-0.78;-0.78	4.67|4.67	4.67|4.67	0.58626|0.58626	.|Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	.|0.156200	.|0.44285	.|D	.|0.000467	.|T	.|0.53351	.|0.1791	N|N	0.16602|0.16602	0.42|0.42	0.32826|0.32826	D|D	0.503431|0.503431	.|B	.|0.14012	.|0.009	.|B	.|0.12156	.|0.007	.|T	.|0.53913	.|-0.8371	.|10	.|0.10111	.|T	.|0.7	.|-1.7736	9.1803|9.1803	0.37138|0.37138	0.0:0.8504:0.0:0.1496|0.0:0.8504:0.0:0.1496	.|.	.|868	.|Q70J99	.|UN13D_HUMAN	.|T	-1|868	.|ENSP00000207549:A868T;ENSP00000388093:A868T	.|ENSP00000207549:A868T	.|A	-|-	.|1	.|0	UNC13D|UNC13D	71338797|71338797	0.257000|0.257000	0.24022|0.24022	0.877000|0.877000	0.34402|0.34402	0.025000|0.025000	0.11179|0.11179	0.717000|0.717000	0.25851|0.25851	2.397000|2.397000	0.81536|0.81536	0.655000|0.655000	0.94253|0.94253	.|GCC	UNC13D	-	pfam_Munc13_subgr_dom-2	ENSG00000092929		0.617	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	-	0	144	0	C	XM_113950		73827202	-1	tier1	-	no_errors	ENST00000412096	ensembl	human	known	74_37	missense	33.33	70	35	SNP	0.802	T	T	73827202	C	T	73827202	3	4	181	1	0	0	0	0	1	0	0	0	17036	739	26	3	694	3	UNC13D	17	73827202	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	329225	73827202	7368008	214	45114											
LGALS3BP	3959	genome.wustl.edu	37	chr17	76969204	76969204	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgtcctcgccctgcacattCacgctgatggacaggtcgca	7	8	11	15	4	1	1	1	1	0	0	4	2	2	2	2	2	1	3	2	2	0	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:76969204C>G	ENST00000262776.3	-	5	785	c.477G>C	c.(475-477)gtG>gtC	p.V159V	LGALS3BP_ENST00000591778.1_Intron|LGALS3BP_ENST00000585407.1_Silent_p.V159V	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	159	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)			CCTGCACATTCACGCTGATGG	0.652																																					GBM(89;1105 1755 18102 21513)												0													38	32	34					17																	76969204		2203	4300	6503	SO:0001819	synonymous_variant	0			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.477G>C	17.37:g.76969204C>G			Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Nonstop_Mutation	SNP	NULL	p.*19S	ENST00000262776.3	37	c.56	CCDS11759.1	17																																																																																			LGALS3BP	-	NULL	ENSG00000108679		0.652	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	HGNC	protein_coding	OTTHUMT00000437785.3	-	0	29	0	C	NM_005567		76969204	-1	tier1	-	no_errors	ENST00000586720	ensembl	human	known	74_37	nonstop	40.00	17	12	SNP	0.119	G	G	76969204	C	G	76969204	2	3	181	1	0	0	0	0	0	0	0	1	8772	813	29	5		5	LGALS3BP	17	76969204	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	3142002	76969204	4226006	215	45115											
BAHCC1	57597	genome.wustl.edu	37	chr17	79409094	79409094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagggcaaggagcggccagCggcagaggaggacggtggca	10	2	21	8	3	0	2	0	1	0	1	0	5	0	5	1	8	2	3	1	8	1	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:79409094C>T	ENST00000307745.7	+	9	719	c.719C>T	c.(718-720)gCg>gTg	p.A240V																								GAGCGGCCAGCGGCAGAGGAG	0.716																																																	0													10	15	14					17																	79409094		2088	4161	6249	SO:0001583	missense	0																														ENST00000307745.7:c.719C>T	17.37:g.79409094C>T	ENSP00000303486:p.Ala240Val			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A240V	ENST00000307745.7	37	c.719		17	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.965979	0.00461	.	.	ENSG00000171282	ENST00000307745	T	0.11604	2.76	3.2	-2.08	0.07254	.	.	.	.	.	T	0.03220	0.0094	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44982	-0.9292	9	0.20046	T	0.44	.	2.8797	0.05644	0.1988:0.4203:0.0:0.3809	.	240	Q9P281	BAHC1_HUMAN	V	240	ENSP00000303486:A240V	ENSP00000303486:A240V	A	+	2	0	AC110285.1	77023689	0.000000	0.05858	0.001000	0.08648	0.386000	0.30323	-1.455000	0.02379	-0.111000	0.12001	-0.701000	0.03672	GCG	RP11-1055B8.7	-	NULL	ENSG00000171282		0.716	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	Clone_based_vega_gene	protein_coding			0	43	0	C			79409094	1			no_errors	ENST00000307745	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.000	T	T	79409094	C	T	79409094	3	4	181	1	0	0	0	0	1	0	0	0	1297	768	27	1	568	1	BAHCC1	17	79409094	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2439890	79409094	1786116	216	45116											
ZNF750	79755	genome.wustl.edu	37	chr17	80790253	80790253	+	Frame_Shift_Del	DEL	T	T	-																															gtaaagggacattggaaacaTttatacttgaagggctttcc																										TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:80790253delT	ENST00000269394.3	-	2	911	c.78delA	c.(76-78)aaafs	p.K26fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	26					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATTGGAAACATTTATACTTGA	0.413																																																	0													96	104	101					17																	80790253		2203	4300	6503	SO:0001589	frameshift_variant	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.78delA	17.37:g.80790253delT	ENSP00000269394:p.Lys26fs		Q9H899	Frame_Shift_Del	DEL	NULL	p.K26fs	ENST00000269394.3	37	c.78	CCDS11819.1	17																																																																																			ZNF750	-	NULL	ENSG00000141579		0.413	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2		0	64	0	T	NM_024702		80790253	-1	tier1		no_errors	ENST00000269394	ensembl	human	known	74_37	frame_shift_del	31.15	42	19	DEL	1.000	-	-	80790253	T	-	80790253	7	5	181	1	0	1	0	1	0	0	0	0	18180	1490	52	0	2101	0	ZNF750	17	80790253	Frame_Shift_Del	DEL	T	TCGA-Z6-A8JD-01A-11D-A36J-09	1381159	80790253	404957	217	45117											
SEH1L	81929	genome.wustl.edu	37	chr18	12987007	12987007	+	3'UTR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcctcaccctcgcagacGatatctctctcggcctctta	7	12	6	16	3	4	1	1	0	3	1	8	2	5	1	3	1	0	2	3	1	3	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:12987007G>T	ENST00000262124.11	+	0	2966				SEH1L_ENST00000399892.2_Missense_Mutation_p.R406L|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|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)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCTCGCAGACGATATCTCTCT	0.478																																																	0													114	102	106					18																	12987007		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1756G>T	18.37:g.12987007G>T			A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R406L	ENST00000262124.11	37	c.1217	CCDS45832.1	18	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016406	0.35606	.	.	ENSG00000085415	ENST00000399892	T	0.67865	-0.29	5.7	4.83	0.62350	.	0.473381	0.19498	N	0.112818	T	0.58264	0.2110	.	.	.	0.25752	N	0.985044	B	0.02656	0.0	B	0.04013	0.001	T	0.52660	-0.8546	9	0.48119	T	0.1	-0.2836	14.6747	0.68969	0.0696:0.0:0.9304:0.0	.	406	Q96EE3-1	.	L	406	ENSP00000382779:R406L	ENSP00000382779:R406L	R	+	2	0	SEH1L	12977007	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.093000	0.57714	1.418000	0.47098	0.557000	0.71058	CGA	SEH1L	-	NULL	ENSG00000085415		0.478	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEH1L	HGNC	protein_coding	OTTHUMT00000458254.1	-	0	50	0	G	NM_031216		12987007	1	tier1	-	no_errors	ENST00000399892	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	12987007	G	T	12987007	1	4	181	0	1	0	0	0	0	0	0	0	14054	1058	37	2		2	SEH1L	18	12987007	3'UTR	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09		12987007	65090241	218	45118											
POTEC	388468	genome.wustl.edu	37	chr18	14538222	14538222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtactacttctgaatttccaTtggcagaggccaaatgtaga	12	12	9	8	0	1	3	0	1	1	2	2	3	2	3	2	2	2	3	2	2	5	6	rs560489076	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:14538222T>C	ENST00000358970.5	-	2	547	c.548A>G	c.(547-549)aAt>aGt	p.N183S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	183										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGAATTTCCATTGGCAGAGGC	0.408													.|||	21	0.00419329	8e-04	0	5008	,	,		20008	0		0	False		,,,				2504	0.0204																0																																										SO:0001583	missense	0			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.548A>G	18.37:g.14538222T>C	ENSP00000351856:p.Asn183Ser			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N183S	ENST00000358970.5	37	c.548	CCDS45835.1	18	.	.	.	.	.	.	.	.	.	.	T	6.798	0.516244	0.12944	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.63096	-0.02	1.4	-1.57	0.08506	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.35248	0.0925	N	0.11201	0.11	0.20764	N	0.999855	B	0.18013	0.025	B	0.19666	0.026	T	0.19516	-1.0303	9	0.54805	T	0.06	.	1.4831	0.02441	0.3118:0.2223:0.0:0.4659	.	183	B2RU33	POTEC_HUMAN	S	183	ENSP00000351856:N183S	ENSP00000351856:N183S	N	-	2	0	POTEC	14528222	0.950000	0.32346	0.239000	0.24122	0.091000	0.18340	-0.099000	0.11007	-0.424000	0.07382	0.163000	0.16589	AAT	POTEC	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000183206		0.408	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	-	0	52	0	T	XM_496269		14538222	-1	tier1	-	no_errors	ENST00000358970	ensembl	human	known	74_37	missense	27.66	34	13	SNP	0.980	C	C	14538222	T	C	14538222	3	2	181	1	0	0	0	0	1	0	0	0	12301	1493	52	4	1120	4	POTEC	18	14538222	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	1551215	14538222	63539026	219	45119											
C18orf45	85019	genome.wustl.edu	37	chr18	20932234	20932234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcactgtactgaacatgaGaaagaatcccaaaaatccac	17	8	5	11	0	1	3	1	2	0	2	3	4	3	3	2	0	2	1	2	0	6	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:20932234G>A	ENST00000383233.3	-	13	743	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000450466.2_Missense_Mutation_p.L110F	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	231						integral component of membrane (GO:0016021)											CTGAACATGAGAAAGAATCCC	0.448																																																	0													87	86	86					18																	20932234		1865	4098	5963	SO:0001583	missense	0			BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"chromosome 18 open reading frame 45"	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.691C>T	18.37:g.20932234G>A	ENSP00000372720:p.Leu231Phe		I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	NULL	p.L231F	ENST00000383233.3	37	c.691	CCDS11876.2	18	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523111	0.27211	.	.	ENSG00000134490	ENST00000450466;ENST00000383233	T;T	0.72615	0.41;-0.67	5.48	3.33	0.38152	.	0.783494	0.10969	N	0.614028	T	0.73575	0.3604	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.67231	0.95	T	0.69914	-0.5016	10	0.62326	D	0.03	-7.57	7.5854	0.27989	0.1002:0.1724:0.7274:0.0	.	231	Q24JQ0	CR045_HUMAN	F	110;231	ENSP00000414899:L110F;ENSP00000372720:L231F	ENSP00000372720:L231F	L	-	1	0	C18orf45	19186232	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.093000	0.50217	1.287000	0.44583	0.655000	0.94253	CTC	TMEM241	-	NULL	ENSG00000134490		0.448	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM241	HGNC	protein_coding	OTTHUMT00000254702.3	-	0	81	0	G	NM_032933		20932234	-1	tier1	-	no_errors	ENST00000383233	ensembl	human	known	74_37	missense	32.47	51	25	SNP	0.994	A	A	20932234	G	A	20932234	3	1	181	1	0	0	0	0	1	0	0	0	1910	942	33	3	211	3	C18orf45	18	20932234	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	6394012	20932234	57145014	220	45120											
KIAA1632	57724	genome.wustl.edu	37	chr18	43510751	43510751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaaatctcttctgagctaTtcatagaagaaagacacttc	14	11	7	9	0	3	4	1	1	2	3	5	4	3	4	0	1	1	2	0	1	5	5	rs61736031	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:43510751T>C	ENST00000282041.5	-	12	2337	c.2303A>G	c.(2302-2304)aAt>aGt	p.N768S		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	768					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						TTCTGAGCTATTCATAGAAGA	0.368													T|||	2	0.000399361	0.0015	0	5008	,	,		16380	0		0	False		,,,				2504	0																0								T	SER/ASN	7,3629		0,7,1811	50	48	48		2303	5.9	1	18	dbSNP_129	48	0,8138		0,0,4069	yes	missense	EPG5	NM_020964.2	46	0,7,5880	CC,CT,TT		0.0,0.1925,0.0595	benign	768/2580	43510751	7,11767	1818	4069	5887	SO:0001583	missense	0			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.2303A>G	18.37:g.43510751T>C	ENSP00000282041:p.Asn768Ser		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.N768S	ENST00000282041.5	37	c.2303	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	T	17.42	3.384734	0.61845	0.001925	0.0	ENSG00000152223	ENST00000282041	T	0.08807	3.05	5.87	5.87	0.94306	.	0.593042	0.18913	N	0.127708	T	0.21022	0.0506	L	0.43152	1.355	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.04621	-1.0938	10	0.14656	T	0.56	-22.9466	16.5764	0.84681	0.0:0.0:0.0:1.0	.	768;768	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	S	768	ENSP00000282041:N768S	ENSP00000282041:N768S	N	-	2	0	EPG5	41764749	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.079000	0.76829	2.371000	0.80710	0.533000	0.62120	AAT	EPG5	-	NULL	ENSG00000152223		0.368	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	-	0	142	0	T	NM_020964		43510751	-1	tier1	rs61736031	no_errors	ENST00000282041	ensembl	human	known	74_37	missense	20.21	75	19	SNP	1.000	C	C	43510751	T	C	43510751	3	2	181	1	0	0	0	0	1	0	0	0	8276	1493	52	4	5568	4	KIAA1632	18	43510751	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	22578517	43510751	34566497	221	45121											
MAPK4	5596	genome.wustl.edu	37	chr18	48256223	48256223	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctccaaagaaaggtggtGagggcggaggggccgctcca	9	6	16	10	2	1	2	0	1	1	1	3	3	2	3	3	6	0	1	3	6	2	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:48256223G>A	ENST00000400384.2	+	6	2799	c.1763G>A	c.(1762-1764)tGa>tAa	p.*588*	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.*377*	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	0					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)		GAAAGGTGGTGAGGGCGGAGG	0.682																																																	0													13	15	15					18																	48256223		1933	4110	6043	SO:0001819	synonymous_variant	0			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.1763G>A	18.37:g.48256223G>A			A1A4C4|Q0VG04	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4	p.*588	ENST00000400384.2	37	c.1763	CCDS42437.1	18																																																																																			MAPK4	-	NULL	ENSG00000141639		0.682	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK4	HGNC	protein_coding	OTTHUMT00000448631.2	-	0	29	0	G	NM_002747		48256223	1	tier1	-	no_errors	ENST00000400384	ensembl	human	known	74_37	silent	25.00	18	6	SNP	1.000	A	A	48256223	G	A	48256223	2	1	181	1	0	0	0	0	0	0	0	1	9318	1285	45	3		3	MAPK4	18	48256223	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	4745472	48256223	29821025	222	45122											
PIGN	23556	genome.wustl.edu	37	chr18	59749943	59749943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtagtcaactgaactgcttCaaaagcacacataacaagaa	19	7	6	9	0	2	2	2	1	0	1	2	2	2	2	0	0	5	3	0	0	8	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:59749943C>G	ENST00000357637.5	-	28	2954	c.2539G>C	c.(2539-2541)Gaa>Caa	p.E847Q	PIGN_ENST00000400334.3_Missense_Mutation_p.E847Q	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	847					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)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TGAACTGCTTCAAAAGCACAC	0.303																																																	0													55	48	50					18																	59749943		1809	4058	5867	SO:0001583	missense	0			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2539G>C	18.37:g.59749943C>G	ENSP00000350263:p.Glu847Gln		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.E847Q	ENST00000357637.5	37	c.2539	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918155	0.73098	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.55930	0.49;0.49	5.68	5.68	0.88126	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	D;D	0.68765	0.96;0.96	T	0.63037	-0.6726	10	0.28530	T	0.3	-25.8023	18.9257	0.92544	0.0:1.0:0.0:0.0	.	847;847	B2RCI8;O95427	.;PIGN_HUMAN	Q	847	ENSP00000350263:E847Q;ENSP00000383188:E847Q	ENSP00000350263:E847Q	E	-	1	0	PIGN	57900923	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.267000	0.72546	2.838000	0.97847	0.591000	0.81541	GAA	PIGN	-	pfam_GPI_EtnP_transferase_1_C	ENSG00000197563		0.303	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2	-	0	62	0	C	NM_176787		59749943	-1	tier1	-	no_errors	ENST00000357637	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	G	G	59749943	C	G	59749943	3	3	181	1	0	0	0	0	1	0	0	0	11932	835	29	5	272	5	PIGN	18	59749943	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	11493720	59749943	18327305	223	45123											
STK11	6794	genome.wustl.edu	37	chr19	1226530	1226530	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtgtatgaacggcacaGaggcggcgcagctgagcacc	9	5	15	12	4	0	3	0	2	0	1	0	3	0	3	2	3	3	5	2	3	2	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:1226530G>T	ENST00000326873.7	+	9	2359	c.1186G>T	c.(1186-1188)Gag>Tag	p.E396*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	396					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACGGCACAGAGGCGGCGCA	0.692		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	21	Whole gene deletion(20)|Unknown(1)	cervix(14)|lung(2)|oesophagus(1)|breast(1)|ovary(1)|kidney(1)|pancreas(1)											13	17	15					19																	1226530		1969	4111	6080	SO:0001587	stop_gained	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.1186G>T	19.37:g.1226530G>T	ENSP00000324856:p.Glu396*		B2RBX7|E7EW76	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E396*	ENST00000326873.7	37	c.1186	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	.	46	12.239283	0.99649	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	.	.	.	4.32	2.09	0.27110	.	0.174032	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-41.2439	11.8097	0.52175	0.0:0.3412:0.6588:0.0	.	.	.	.	X	396	.	ENSP00000324856:E396X	E	+	1	0	STK11	1177530	1.000000	0.71417	0.011000	0.14972	0.424000	0.31475	8.757000	0.91657	0.537000	0.28751	0.561000	0.74099	GAG	STK11	-	NULL	ENSG00000118046		0.692	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	-	0	70	0	G	NM_000455		1226530	1	tier1	-	no_errors	ENST00000326873	ensembl	human	known	74_37	nonsense	8.11	68	6	SNP	0.749	T	T	1226530	G	T	1226530	4	4	181	1	0	0	0	0	0	1	0	0	15334	943	33	3	1220	3	STK11	19	1226530	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09		1226530	57902453	224	45124											
TMPRSS9	360200	genome.wustl.edu	37	chr19	2416673	2416673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	catcctggacttcgacctggCtgtcctggagctggccagcc	5	9	12	15	1	0	0	0	0	0	0	3	3	2	2	5	4	2	2	5	4	0	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:2416673C>T	ENST00000332578.3	+	11	1781	c.1781C>T	c.(1780-1782)gCt>gTt	p.A594V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	594	Peptidase S1 2. {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)		TTCGACCTGGCTGTCCTGGAG	0.662																																																	0													56	56	56					19																	2416673		2203	4300	6503	SO:0001583	missense	0			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.1781C>T	19.37:g.2416673C>T	ENSP00000330264:p.Ala594Val		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.A594V	ENST00000332578.3	37	c.1781	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.294353	0.95546	.	.	ENSG00000178297	ENST00000332578	T	0.76968	-1.06	5.17	5.17	0.71159	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000028	D	0.91446	0.7300	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93784	0.7086	10	0.87932	D	0	.	17.1959	0.86892	0.0:1.0:0.0:0.0	.	594	Q7Z410	TMPS9_HUMAN	V	594	ENSP00000330264:A594V	ENSP00000330264:A594V	A	+	2	0	TMPRSS9	2367673	1.000000	0.71417	0.950000	0.38849	0.981000	0.71138	5.897000	0.69831	2.415000	0.81967	0.484000	0.47621	GCT	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178297		0.662	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3		0	102	0	C	NM_182973		2416673	1			no_errors	ENST00000332578	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	2416673	C	T	2416673	3	4	181	1	0	0	0	0	1	0	0	0	16300	797	28	3	1823	3	TMPRSS9	19	2416673	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	1190143	2416673	56712310	225	45125											
TMPRSS9	360200	genome.wustl.edu	37	chr19	2425186	2425186	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgcctggtgcgtcccatCtgcctgcccgagcccgcgcc	3	6	12	20	5	1	0	0	0	1	0	2	1	2	0	7	1	5	0	7	1	0	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:2425186C>T	ENST00000332578.3	+	15	2802	c.2802C>T	c.(2800-2802)atC>atT	p.I934I		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	934	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)		TGCGTCCCATCTGCCTGCCCG	0.731																																																	0													9	8	8					19																	2425186		2165	4207	6372	SO:0001819	synonymous_variant	0			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.2802C>T	19.37:g.2425186C>T			Q6ZND6|Q7Z411	Silent	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.I934	ENST00000332578.3	37	c.2802	CCDS12088.1	19																																																																																			TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178297		0.731	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3		0	37	0	C	NM_182973		2425186	1			no_errors	ENST00000332578	ensembl	human	known	74_37	silent	19.05	17	4	SNP	1.000	T	T	2425186	C	T	2425186	2	4	181	1	0	0	0	0	0	0	0	1	16300	903	32	3		3	TMPRSS9	19	2425186	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	8513	2425186	56703797	226	45126											
GNA15	2769	genome.wustl.edu	37	chr19	3162843	3162843	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcctggacatgtacacGaggatgtacaccgggtgcgt	9	10	12	10	3	1	0	1	0	0	0	2	3	2	2	2	3	3	2	2	3	2	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:3162843G>T	ENST00000262958.3	+	7	1209	c.951G>T	c.(949-951)acG>acT	p.T317T		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	317					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ACATGTACACGAGGATGTACA	0.612											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													85	66	72					19																	3162843		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.951G>T	19.37:g.3162843G>T		609	E9KL40|E9KL47|O75247|Q53XK2	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.T317	ENST00000262958.3	37	c.951	CCDS12104.1	19																																																																																			GNA15	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000060558		0.612	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2	-	0	80	0	G	NM_002068		3162843	1	tier1	-	no_errors	ENST00000262958	ensembl	human	known	74_37	silent	12.16	65	9	SNP	0.000	T	T	3162843	G	T	3162843	2	4	181	1	0	0	0	0	0	0	0	1	6529	1045	37	2		2	GNA15	19	3162843	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	737657	3162843	55966140	227	45127											
ARHGEF18	23370	genome.wustl.edu	37	chr19	7505303	7505303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtccaggaatgtcggtatGacggtctctcagaaaggggg	9	9	15	8	2	2	2	1	1	1	1	5	3	3	3	1	5	0	1	1	5	3	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:7505303G>A	ENST00000359920.6	+	1	730	c.477G>A	c.(475-477)atG>atA	p.M159I	ARHGEF18_ENST00000319670.9_Start_Codon_SNP_p.M1I|CTD-2207O23.3_ENST00000593531.1_Silent_p.*117*	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	159					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)				ATGTCGGTATGACGGTCTCTC	0.672																																																	0													50	46	47					19																	7505303		2203	4300	6503	SO:0001583	missense	0			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.477G>A	19.37:g.7505303G>A	ENSP00000352995:p.Met159Ile		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.M159I	ENST00000359920.6	37	c.477	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976061	0.74360	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.34859	1.38;1.34	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	T	0.39436	0.1078	L	0.36672	1.1	0.80722	D	1	P	0.35383	0.498	B	0.42738	0.396	T	0.33471	-0.9867	10	0.87932	D	0	-35.8851	16.758	0.85505	0.0:0.0:1.0:0.0	.	159	Q6ZSZ5	ARHGI_HUMAN	I	1;159	ENSP00000319200:M1I;ENSP00000352995:M159I	ENSP00000319200:M1I	M	+	3	0	ARHGEF18	7411303	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.409000	0.73289	2.548000	0.85928	0.561000	0.74099	ATG	ARHGEF18	-	NULL	ENSG00000104880		0.672	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1		0	45	0	G	NM_015318		7505303	1			no_errors	ENST00000359920	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	A	A	7505303	G	A	7505303	3	1	181	1	0	0	0	0	1	0	0	0	901	1290	45	3	479	3	ARHGEF18	19	7505303	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	4342460	7505303	51623680	228	45128											
ZNF44	51710	genome.wustl.edu	37	chr19	12383694	12383694	+	Missense_Mutation	SNP	T	T	A	0	1	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	gactttgaaaggaaaataaaTcactaaaagcttttccacat	18	11	5	7	0	1	1	1	1	0	0	2	3	2	2	1	1	1	1	1	1	7	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:12383694T>A	ENST00000356109.5	-	5	1638	c.1520A>T	c.(1519-1521)gAt>gTt	p.D507V	ZNF44_ENST00000355684.5_Missense_Mutation_p.D459V	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GGAAAATAAATCACTAAAAGC	0.373																																																	0													58	64	62					19																	12383694		2134	4261	6395	SO:0001583	missense	0			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"Zinc fingers, C2H2-type", "-"	13110	protein-coding gene	gene with protein product		194542	"zinc finger protein 58", "zinc finger protein 44 (KOX 7)", "zinc finger protein 55"	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1520A>T	19.37:g.12383694T>A	ENSP00000348419:p.Asp507Val		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D507V	ENST00000356109.5	37	c.1520	CCDS54223.1	19	.	.	.	.	.	.	.	.	.	.	T	4.659	0.122541	0.08931	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.54675	0.56;0.56;0.56	0.846	-0.262	0.12958	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35970	0.0950	N	0.16016	0.355	.	.	.	P;D	0.53151	0.673;0.958	P;P	0.51055	0.567;0.657	T	0.41070	-0.9529	8	0.15952	T	0.53	.	4.9025	0.13782	0.0:0.4103:0.0:0.5897	.	507;459	P15621;F8W7T7	ZNF44_HUMAN;.	V	507;507;459;459	ENSP00000377008:D507V;ENSP00000348419:D507V;ENSP00000347910:D459V	ENSP00000347910:D459V	D	-	2	0	ZNF44	12244694	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.692000	0.05127	-0.141000	0.11374	0.254000	0.18369	GAT	ZNF44	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197857		0.373	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF44	HGNC	protein_coding	OTTHUMT00000344132.1		0	53	0	T	NM_016264		12383694	-1			no_errors	ENST00000393337	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	A	A	12383694	T	A	12383694	3	1	181	1	0	0	0	0	1	0	0	0	17960	1435	50	5	475	5	ZNF44	19	12383694	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	4878391	12383694	46745289	229	45129											
EMR3	84658	genome.wustl.edu	37	chr19	14769356	14769356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcggttgtctttgaggagGtggtgtctgcaaaagacatc	8	12	13	8	1	2	2	0	1	2	1	4	3	2	3	1	4	1	2	1	4	2	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:14769356G>T	ENST00000253673.5	-	5	462	c.362C>A	c.(361-363)aCc>aAc	p.T121N	EMR3_ENST00000344373.4_Missense_Mutation_p.T69N|EMR3_ENST00000443157.2_Intron|EMR3_ENST00000599900.1_5'UTR	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	121					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTTTGAGGAGGTGGTGTCTGC	0.498																																																	0													87	77	80					19																	14769356		2203	4300	6503	SO:0001583	missense	0			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.362C>A	19.37:g.14769356G>T	ENSP00000253673:p.Thr121Asn			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.T121N	ENST00000253673.5	37	c.362	CCDS12315.1	19	.	.	.	.	.	.	.	.	.	.	G	2.091	-0.408344	0.04832	.	.	ENSG00000131355	ENST00000253673;ENST00000344373	T;T	0.09630	2.99;2.96	2.93	-2.21	0.06973	.	.	.	.	.	T	0.07818	0.0196	L	0.45581	1.43	0.09310	N	1	P;P	0.49635	0.926;0.788	P;B	0.44447	0.45;0.405	T	0.24154	-1.0168	9	0.13108	T	0.6	.	1.56	0.02593	0.1165:0.1797:0.3372:0.3666	.	69;121	Q9BY15-2;Q9BY15	.;EMR3_HUMAN	N	121;69	ENSP00000253673:T121N;ENSP00000340758:T69N	ENSP00000253673:T121N	T	-	2	0	EMR3	14630356	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.029000	0.12329	-0.313000	0.08728	-0.459000	0.05422	ACC	EMR3	-	NULL	ENSG00000131355		0.498	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1		0	49	0	G	NM_032571		14769356	-1			no_errors	ENST00000253673	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.000	T	T	14769356	G	T	14769356	3	4	181	1	0	0	0	0	1	0	0	0	5122	1261	44	3	1644	3	EMR3	19	14769356	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	2385662	14769356	44359627	230	45130											
NOTCH3	4854	genome.wustl.edu	37	chr19	15288489	15288489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgcccacgctcagcgagCagtcgccgccgtcccagccg	5	4	13	19	7	1	0	1	0	0	0	4	1	2	0	5	1	3	2	5	1	0	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:15288489C>G	ENST00000263388.2	-	24	4325	c.4250G>C	c.(4249-4251)tGc>tCc	p.C1417S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1417					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)			GCTCAGCGAGCAGTCGCCGCC	0.761																																																	0													2	3	3					19																	15288489		1581	3325	4906	SO:0001583	missense	0			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.4250G>C	19.37:g.15288489C>G	ENSP00000263388:p.Cys1417Ser		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.C1417S	ENST00000263388.2	37	c.4250	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903774	0.92035	.	.	ENSG00000074181	ENST00000263388	D	0.99888	-7.54	4.66	4.66	0.58398	Notch domain (5);	.	.	.	.	D	0.99878	0.9942	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95977	0.8974	9	0.87932	D	0	.	16.3064	0.82849	0.0:1.0:0.0:0.0	.	1417	Q9UM47	NOTC3_HUMAN	S	1417	ENSP00000263388:C1417S	ENSP00000263388:C1417S	C	-	2	0	NOTCH3	15149489	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.579000	0.82511	2.129000	0.65627	0.313000	0.20887	TGC	NOTCH3	-	pirsf_Notch,pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,prints_Notch_dom,pfscan_Notch_dom	ENSG00000074181		0.761	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1		0	30	0	C	NM_000435		15288489	-1			no_errors	ENST00000263388	ensembl	human	known	74_37	missense	14.29	17	3	SNP	1.000	G	G	15288489	C	G	15288489	3	3	181	1	0	0	0	0	1	0	0	0	10589	710	25	5	2755	5	NOTCH3	19	15288489	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	519133	15288489	43840494	231	45131											
CYP4F8	11283	genome.wustl.edu	37	chr19	15734900	15734900	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgtgagcctaaagagattGaatggtgagtgcaggtgctg	11	9	15	6	1	0	4	0	3	0	1	0	5	0	4	2	2	3	2	2	2	3	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:15734900G>C	ENST00000441682.2	+	0	1172							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TAAAGAGATTGAATGGTGAGT	0.552																																																	0													83	71	75					19																	15734900		2203	4300	6503			0			AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15734900G>C				RNA	SNP	-	NULL	ENST00000441682.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	10.46	1.357194	0.24598	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.11	3.11	0.35812	.	0.232347	0.33290	U	0.005076	T	0.56016	0.1957	.	.	.	0.34152	D	0.667637	P;P	0.49358	0.576;0.923	P;P	0.52672	0.513;0.706	T	0.65071	-0.6257	7	0.29301	T	0.29	.	11.6886	0.51501	0.0:0.0:1.0:0.0	.	183;371	B4DU85;P98187	.;CP4F8_HUMAN	Q	370;183;220	.	ENSP00000314398:E183Q	E	+	1	0	CYP4F8	15595900	1.000000	0.71417	0.997000	0.53966	0.668000	0.39293	2.262000	0.43285	1.563000	0.49615	0.411000	0.27672	GAA	CYP4F8	-	-	ENSG00000186526		0.552	CYP4F8-201	KNOWN	basic	processed_transcript	CYP4F8	HGNC	processed_transcript		-	0	160	0	G	NM_007253		15734900	1	tier1	-	no_errors	ENST00000325723	ensembl	human	known	74_37	rna	19.35	150	36	SNP	1.000	C	C	15734900	G	C	15734900	1	2	181	0	1	0	0	0	0	0	0	0	4200	1291	45	5		5	CYP4F8	19	15734900	RNA	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	446411	15734900	43394083	232	45132											
ZNF90	7643	genome.wustl.edu	37	chr19	20229526	20229526	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcactcctttataaacataAgataagtcatagtgaaaaga	18	11	5	7	0	2	3	2	1	0	2	3	3	3	3	1	0	1	0	1	0	8	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:20229526A>T	ENST00000418063.2	+	4	1275	c.1163A>T	c.(1162-1164)aAg>aTg	p.K388M	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	388					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						TATAAACATAAGATAAGTCAT	0.363																																																	0													48	46	47					19																	20229526		692	1591	2283	SO:0001583	missense	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1163A>T	19.37:g.20229526A>T	ENSP00000410466:p.Lys388Met		B9EH87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K388M	ENST00000418063.2	37	c.1163	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	A	11.91	1.778661	0.31502	.	.	ENSG00000213988	ENST00000418063	T	0.12569	2.67	1.18	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04227	0.0117	N	0.01800	-0.715	0.22737	N	0.998795	B	0.17465	0.022	B	0.10450	0.005	T	0.45702	-0.9243	8	.	.	.	.	5.8608	0.18745	1.0:0.0:0.0:0.0	.	388	Q03938	ZNF90_HUMAN	M	388	ENSP00000410466:K388M	.	K	+	2	0	ZNF90	20090526	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	-0.679000	0.05203	0.251000	0.21505	0.248000	0.18094	AAG	ZNF90	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213988		0.363	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	-	0	75	0	A	NM_007138		20229526	1	tier1	-	no_errors	ENST00000418063	ensembl	human	known	74_37	missense	7.37	88	7	SNP	0.990	T	T	20229526	A	T	20229526	3	4	181	1	0	0	0	0	1	0	0	0	18247	72	3	5	1177	5	ZNF90	19	20229526	Missense_Mutation	SNP	A	TCGA-Z6-A8JD-01A-11D-A36J-09	4494626	20229526	38899457	233	45133											
ZNF676	163223	genome.wustl.edu	37	chr19	22363402	22363402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	ggttgagaccttactaaaggCtttgccacatccttcacatt	10	13	7	11	0	1	1	1	1	0	1	2	2	2	1	3	2	2	2	3	2	3	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:22363402C>A	ENST00000397121.2	-	3	1434	c.1117G>T	c.(1117-1119)Gcc>Tcc	p.A373S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	373					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)				TTACTAAAGGCTTTGCCACAT	0.398																																																	0													81	87	85					19																	22363402		2154	4267	6421	SO:0001583	missense	0			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.1117G>T	19.37:g.22363402C>A	ENSP00000380310:p.Ala373Ser		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A373S	ENST00000397121.2	37	c.1117	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	4.849	0.157802	0.09236	.	.	ENSG00000196109	ENST00000397121	T	0.13420	2.59	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	N	0.02315	-0.6	0.09310	N	0.999996	P	0.49783	0.928	P	0.46796	0.527	T	0.18777	-1.0326	9	0.56958	D	0.05	.	2.6274	0.04933	0.4902:0.2644:0.0:0.2454	.	373	Q8N7Q3	ZN676_HUMAN	S	373	ENSP00000380310:A373S	ENSP00000380310:A373S	A	-	1	0	ZNF676	22155242	0.000000	0.05858	0.021000	0.16686	0.021000	0.10359	-0.568000	0.05909	-1.206000	0.02641	-1.206000	0.01644	GCC	ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.398	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	84	0	C	NM_001001411		22363402	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	12.90	81	12	SNP	0.257	A	A	22363402	C	A	22363402	3	1	181	1	0	0	0	0	1	0	0	0	18131	797	28	3	653	3	ZNF676	19	22363402	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2133876	22363402	36765581	234	45134											
ZNF91	7644	genome.wustl.edu	37	chr19	23544105	23544105	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttatgtgtagtaagggttGagaattgcttaaaagctttg	11	17	11	2	0	0	1	0	1	0	1	0	2	0	1	0	1	2	5	0	1	6	8			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:23544105G>C	ENST00000300619.7	-	4	1881	c.1676C>G	c.(1675-1677)tCa>tGa	p.S559*	ZNF91_ENST00000397082.2_Nonsense_Mutation_p.S527*|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	559					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)				AGTAAGGGTTGAGAATTGCTT	0.323																																																	0													39	41	41					19																	23544105		2112	4262	6374	SO:0001587	stop_gained	0			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.1676C>G	19.37:g.23544105G>C	ENSP00000300619:p.Ser559*		A8K5E1|B7Z6G6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S559*	ENST00000300619.7	37	c.1676	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057964	0.55325	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	.	.	.	1.71	0.334	0.15948	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.1274	0.14892	0.0:0.2158:0.5673:0.2168	.	.	.	.	X	559;527	.	ENSP00000300619:S559X	S	-	2	0	ZNF91	23335945	0.000000	0.05858	0.011000	0.14972	0.040000	0.13550	-3.256000	0.00538	0.921000	0.36994	0.205000	0.17691	TCA	ZNF91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167232		0.323	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	-	0	73	0	G	NM_003430		23544105	-1	tier1	-	no_errors	ENST00000300619	ensembl	human	known	74_37	nonsense	12.61	104	15	SNP	0.023	C	C	23544105	G	C	23544105	4	2	181	1	0	0	0	0	0	1	0	0	18248	1294	45	5	1903	5	ZNF91	19	23544105	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	1180703	23544105	35584878	235	45135											
ZNF91	7644	genome.wustl.edu	37	chr19	23544477	23544477	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgccacattcttcacacTtgtaaggtttctctccagta	8	16	5	12	0	3	0	1	0	2	0	5	0	4	0	2	1	1	3	2	1	2	7			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:23544477T>G	ENST00000300619.7	-	4	1509	c.1304A>C	c.(1303-1305)aAg>aCg	p.K435T	ZNF91_ENST00000397082.2_Missense_Mutation_p.K403T|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	435					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)				TTCTTCACACTTGTAAGGTTT	0.348																																																	0													20	21	21					19																	23544477		1987	4187	6174	SO:0001583	missense	0			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.1304A>C	19.37:g.23544477T>G	ENSP00000300619:p.Lys435Thr		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K435T	ENST00000300619.7	37	c.1304	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	T	8.077	0.771581	0.16051	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.08458	3.09;3.09	1.47	1.47	0.22746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10423	0.0255	N	0.17838	0.53	0.09310	N	1	D;D	0.59767	0.969;0.986	P;P	0.59288	0.653;0.855	T	0.23440	-1.0188	9	0.56958	D	0.05	.	5.258	0.15558	0.0:0.0:0.2981:0.7019	.	403;435	Q05481-2;Q05481	.;ZNF91_HUMAN	T	435;403	ENSP00000300619:K435T;ENSP00000380272:K403T	ENSP00000300619:K435T	K	-	2	0	ZNF91	23336317	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.642000	0.05427	0.651000	0.30788	0.172000	0.16884	AAG	ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167232		0.348	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	-	0	53	0	T	NM_003430		23544477	-1	tier1	-	no_errors	ENST00000300619	ensembl	human	known	74_37	missense	11.86	52	7	SNP	0.004	G	G	23544477	T	G	23544477	3	3	181	1	0	0	0	0	1	0	0	0	18248	1609	56	4	2275	4	ZNF91	19	23544477	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	372	23544477	35584506	236	45136											
ZNF681	148213	genome.wustl.edu	37	chr19	23938284	23938284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcctatataaattctgctGtatagtgtccaggcattgcc	10	15	7	9	0	1	0	0	0	1	0	3	0	3	0	3	1	2	3	3	1	6	8			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:23938284G>C	ENST00000402377.3	-	2	214	c.73C>G	c.(73-75)Cag>Gag	p.Q25E	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)				AAATTCTGCTGTATAGTGTCC	0.403																																																	0													99	107	104					19																	23938284		2203	4300	6503	SO:0001583	missense	0			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.73C>G	19.37:g.23938284G>C	ENSP00000384000:p.Gln25Glu		B3KVF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q25E	ENST00000402377.3	37	c.73	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	4.668	0.124241	0.08931	.	.	ENSG00000196172	ENST00000402377	T	0.09073	3.02	1.05	1.05	0.20165	Krueppel-associated box (4);	.	.	.	.	T	0.27967	0.0689	M	0.93150	3.385	0.09310	N	0.999998	P	0.45212	0.853	P	0.56088	0.791	T	0.06862	-1.0803	9	0.72032	D	0.01	.	5.3007	0.15776	0.0:0.0:1.0:0.0	.	25	Q96N22	ZN681_HUMAN	E	25	ENSP00000384000:Q25E	ENSP00000384000:Q25E	Q	-	1	0	ZNF681	23730124	0.094000	0.21725	0.027000	0.17364	0.027000	0.11550	2.182000	0.42556	0.452000	0.26830	0.460000	0.39030	CAG	ZNF681	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196172		0.403	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	-	0	133	0	G	NM_138286		23938284	-1	tier1	-	no_errors	ENST00000402377	ensembl	human	known	74_37	missense	17.69	121	26	SNP	0.032	C	C	23938284	G	C	23938284	3	2	181	1	0	0	0	0	1	0	0	0	18136	1386	48	5	1876	5	ZNF681	19	23938284	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	393807	23938284	35190699	237	45137											
ZFP14	57677	genome.wustl.edu	37	chr19	36853058	36853058	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcccacattacatccctaTataagtccctctgagcagga	11	11	5	14	0	2	1	0	1	2	0	5	2	4	2	3	1	2	1	3	1	4	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:36853058T>C	ENST00000270001.7	-	3	207	c.92A>G	c.(91-93)tAt>tGt	p.Y31C	ZFP14_ENST00000589280.1_Missense_Mutation_p.Y31C	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	31	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)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TACATCCCTATATAAGTCCCT	0.413																																																	0													111	102	105					19																	36853058		2203	4300	6503	SO:0001583	missense	0			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.92A>G	19.37:g.36853058T>C	ENSP00000270001:p.Tyr31Cys		A7MD23	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y31C	ENST00000270001.7	37	c.92	CCDS33002.1	19	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406598	0.62399	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.07021	3.23	4.35	4.35	0.52113	Krueppel-associated box (4);	0.000000	0.38381	N	0.001705	T	0.32645	0.0836	M	0.89904	3.07	0.36880	D	0.889341	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.45760	-0.9239	10	0.72032	D	0.01	.	10.0947	0.42469	0.0:0.0:0.0:1.0	.	31;31	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	C	31	ENSP00000270001:Y31C	ENSP00000270001:Y31C	Y	-	2	0	ZFP14	41544898	0.970000	0.33590	0.995000	0.50966	0.996000	0.88848	4.320000	0.59203	1.951000	0.56629	0.533000	0.62120	TAT	ZFP14	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000142065		0.413	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	-	0	91	0	T	NM_020917		36853058	-1	tier1	-	no_errors	ENST00000270001	ensembl	human	known	74_37	missense	6.01	266	17	SNP	0.991	C	C	36853058	T	C	36853058	3	2	181	1	0	0	0	0	1	0	0	0	17687	1406	49	4	1521	4	ZFP14	19	36853058	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	12914774	36853058	22275925	238	45138											
ZNF790	388536	genome.wustl.edu	37	chr19	37310963	37310963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caattgggctatttctctctCaaaaatgccattttttggta	10	17	6	8	0	2	0	1	0	2	0	4	0	2	0	1	2	1	2	1	2	5	7			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:37310963C>G	ENST00000356725.4	-	5	403	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	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	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)			ATTTCTCTCTCAAAAATGCCA	0.358																																																	0													64	66	66					19																	37310963		2203	4300	6503	SO:0001583	missense	0			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.283G>C	19.37:g.37310963C>G	ENSP00000349161:p.Glu95Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E95Q	ENST00000356725.4	37	c.283	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287869	0.23478	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.05447	3.44;6.3;5.8	3.08	2.0	0.26442	.	.	.	.	.	T	0.06781	0.0173	L	0.59912	1.85	0.09310	N	1	B	0.34015	0.435	B	0.24269	0.052	T	0.24368	-1.0162	9	0.51188	T	0.08	.	8.0842	0.30762	0.0:0.7488:0.2512:0.0	.	95	Q6PG37	ZN790_HUMAN	Q	95	ENSP00000349161:E95Q;ENSP00000435944:E95Q;ENSP00000433389:E95Q	ENSP00000349161:E95Q	E	-	1	0	ZNF790	42002803	0.021000	0.18746	0.001000	0.08648	0.021000	0.10359	3.196000	0.51020	0.599000	0.29845	0.484000	0.47621	GAG	ZNF790	-	NULL	ENSG00000197863		0.358	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	-	0	87	0	C	NM_206894		37310963	-1	tier1	-	no_errors	ENST00000356725	ensembl	human	known	74_37	missense	8.06	114	10	SNP	0.004	G	G	37310963	C	G	37310963	3	3	181	1	0	0	0	0	1	0	0	0	18210	835	29	5	1631	5	ZNF790	19	37310963	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	457905	37310963	21818020	239	45139											
ATP1A3	478	genome.wustl.edu	37	chr19	42492278	42492278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggatctcctgggctttgCtgtgggtcaaaccctgaggg	6	10	14	11	0	2	1	1	1	1	0	3	2	2	2	3	4	2	2	3	4	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:42492278C>T	ENST00000302102.5	-	4	317	c.167G>A	c.(166-168)aGc>aAc	p.S56N	ATP1A3_ENST00000543770.1_Missense_Mutation_p.S67N|ATP1A3_ENST00000545399.1_Missense_Mutation_p.S69N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.S26N|ATP1A3_ENST00000468774.2_5'UTR	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	56					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						CTGGGCTTTGCTGTGGGTCAA	0.632																																																	0													82	85	84					19																	42492278		2203	4300	6503	SO:0001583	missense	0				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.167G>A	19.37:g.42492278C>T	ENSP00000302397:p.Ser56Asn		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.S56N	ENST00000302102.5	37	c.167	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666077	0.47677	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	4.52	3.44	0.39384	ATPase, P-type cation-transporter, N-terminal (2);	0.437153	0.25040	N	0.033616	T	0.80385	0.4613	L	0.55990	1.75	0.34235	D	0.676978	B;B;B;B	0.28880	0.001;0.027;0.226;0.034	B;B;B;B	0.40677	0.007;0.079;0.337;0.129	T	0.83082	-0.0137	10	0.41790	T	0.15	.	12.3262	0.55011	0.0:0.8275:0.1725:0.0	.	69;67;56;56	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	N	56;56;69;26;67;69	ENSP00000302397:S56N;ENSP00000411503:S56N;ENSP00000444688:S69N;ENSP00000437577:S67N	ENSP00000302397:S56N	S	-	2	0	ATP1A3	47184118	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.023000	0.49666	0.987000	0.38709	0.491000	0.48974	AGC	ATP1A3	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105409		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1		0	110	0	C	NM_152296		42492278	-1			no_errors	ENST00000302102	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	42492278	C	T	42492278	3	4	181	1	0	0	0	0	1	0	0	0	1131	797	28	3	2954	3	ATP1A3	19	42492278	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	5181315	42492278	16636705	240	45140											
MEGF8	1954	genome.wustl.edu	37	chr19	42838298	42838298	+	Frame_Shift_Del	DEL	G	G	-																															gtgtgcctgcgagccgggctGggggggtcctgactgtggcc																										TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:42838298delG	ENST00000251268.6	+	3	491	c.491delG	c.(490-492)tggfs	p.W164fs	MEGF8_ENST00000334370.4_Frame_Shift_Del_p.W164fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	164	EGF-like 1. {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)				GAGCCGGGCTGGGGGGGTCCT	0.701																																																	0													20	23	22					19																	42838298		1997	4139	6136	SO:0001589	frameshift_variant	0			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.491delG	19.37:g.42838298delG	ENSP00000251268:p.Trp164fs		A8KAY0|O75097	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.G166fs	ENST00000251268.6	37	c.491		19																																																																																			MEGF8	-	smart_EG-like_dom	ENSG00000105429		0.701	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0	51	0	G	NM_001410		42838298	1	tier1		no_errors	ENST00000251268	ensembl	human	known	74_37	frame_shift_del	8.70	42	4	DEL	1.000	-	-	42838298	G	-	42838298	7	5	181	1	0	1	0	1	0	0	0	0	9501	1357	47	0	501	0	MEGF8	19	42838298	Frame_Shift_Del	DEL	G	TCGA-Z6-A8JD-01A-11D-A36J-09	346020	42838298	16290685	241	45141											
CADM4	199731	genome.wustl.edu	37	chr19	44130331	44130331	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtccggagggcagcgcctgGttctgcgcctcacagatgat	6	9	14	12	3	2	2	1	1	1	1	3	3	3	3	3	3	2	2	3	3	0	1	rs199788280		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:44130331G>A	ENST00000222374.2	-	5	657	c.609C>T	c.(607-609)aaC>aaT	p.N203N	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	203	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)				GCAGCGCCTGGTTCTGCGCCT	0.612																																																	0													146	104	119					19																	44130331		2203	4300	6503	SO:0001819	synonymous_variant	0			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.609C>T	19.37:g.44130331G>A			B2R7L5|Q9Y4A4	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.N203	ENST00000222374.2	37	c.609	CCDS12627.1	19																																																																																			CADM4	-	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000105767		0.612	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM4	HGNC	protein_coding	OTTHUMT00000463352.1	-	0	44	0	G	NM_145296		44130331	-1	tier1	-	no_errors	ENST00000222374	ensembl	human	known	74_37	silent	13.33	39	6	SNP	1.000	A	A	44130331	G	A	44130331	2	1	181	1	0	0	0	0	0	0	0	1	2576	1252	44	3		3	CADM4	19	44130331	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	1292033	44130331	14998652	242	45142											
GYS1	2997	genome.wustl.edu	37	chr19	49484891	49484891	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtctgctcgctgccgttCacctgcgcagaaagaaagga	10	8	11	12	3	2	2	1	0	1	2	3	3	2	3	2	1	3	4	2	1	2	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:49484891C>A	ENST00000323798.3	-	8	1261	c.1065G>T	c.(1063-1065)gtG>gtT	p.V355V	GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000540532.1_Nonstop_Mutation_p.*236L|GYS1_ENST00000263276.6_Silent_p.V291V|GYS1_ENST00000541188.1_Silent_p.V275V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	355					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)		CGCTGCCGTTCACCTGCGCAG	0.572																																																	0													104	84	91					19																	49484891		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1065G>T	19.37:g.49484891C>A			Q9BTT9	Nonstop_Mutation	SNP	pfam_Glycogen_synth,pfam_Starch_synth_cat_dom	p.*236L	ENST00000323798.3	37	c.707	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	c	11.35	1.612068	0.28712	.	.	ENSG00000104812	ENST00000540532	.	.	.	4.86	2.69	0.31865	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.879	3.8014	0.08760	0.1604:0.5647:0.184:0.0909	.	.	.	.	L	236	.	.	X	-	2	2	GYS1	54176703	0.062000	0.20869	0.998000	0.56505	0.581000	0.36288	-0.630000	0.05502	0.554000	0.29061	0.506000	0.49869	TGA	GYS1	-	NULL	ENSG00000104812		0.572	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1	-	0	80	0	C	NM_002103		49484891	-1	tier1	-	no_errors	ENST00000540532	ensembl	human	known	74_37	nonstop	13.43	58	9	SNP	1.000	A	A	49484891	C	A	49484891	2	1	181	1	0	0	0	0	0	0	0	1	6939	813	29	3		3	GYS1	19	49484891	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	5354560	49484891	9644092	243	45143											
CNOT3	4849	genome.wustl.edu	37	chr19	54652448	54652448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaggccttgggccccccttCcggcccccacaacccacctc	5	5	7	24	1	0	0	0	0	0	0	2	0	1	0	10	3	1	0	10	3	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:54652448C>T	ENST00000406403.1	+	11	2979	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	CNOT3_ENST00000221232.5_Missense_Mutation_p.S459F|CNOT3_ENST00000358389.3_Missense_Mutation_p.S278F			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	459	Pro-rich.				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)					GGCCCCCCTTCCGGCCCCCAC	0.647																																																	0													20	24	23					19																	54652448		2203	4298	6501	SO:0001583	missense	0			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.1376C>T	19.37:g.54652448C>T	ENSP00000383954:p.Ser459Phe		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.S459F	ENST00000406403.1	37	c.1376	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801682	0.50315	.	.	ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403	T;T	0.47177	0.85;0.85	3.91	3.91	0.45181	.	0.896368	0.09633	N	0.776011	T	0.35799	0.0944	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.28512	0.07;0.145;0.214	B;B;B	0.28011	0.085;0.085;0.085	T	0.34329	-0.9833	10	0.56958	D	0.05	-0.064	15.2101	0.73214	0.0:1.0:0.0:0.0	.	459;459;383	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	F	459;278;459	ENSP00000221232:S459F;ENSP00000383954:S459F	ENSP00000221232:S459F	S	+	2	0	CNOT3	59344260	0.211000	0.23529	0.005000	0.12908	0.874000	0.50279	5.582000	0.67477	2.174000	0.68829	0.585000	0.79938	TCC	CNOT3	-	pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.647	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3		0	93	0	C	NM_014516		54652448	1			no_errors	ENST00000221232	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.067	T	T	54652448	C	T	54652448	3	4	181	1	0	0	0	0	1	0	0	0	3627	855	30	3	1418	3	CNOT3	19	54652448	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	5167557	54652448	4476535	244	45144											
JAG1	182	genome.wustl.edu	37	chr20	10653641	10653641	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaactcgaactgacccGaggccccacacacctgccgg	9	5	8	19	3	1	1	0	1	1	0	3	3	1	1	6	2	3	0	6	2	2	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:10653641G>T	ENST00000254958.5	-	2	610	c.95C>A	c.(94-96)tCg>tAg	p.S32*	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	32					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						GAACTGACCCGAGGCCCCACA	0.647									Alagille Syndrome																																								0													28	31	30					20																	10653641		2203	4300	6503	SO:0001587	stop_gained	0	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.95C>A	20.37:g.10653641G>T	ENSP00000254958:p.Ser32*		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.S32*	ENST00000254958.5	37	c.95	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	G	42	9.605736	0.99217	.	.	ENSG00000101384	ENST00000254958	.	.	.	5.34	4.39	0.52855	.	0.186305	0.49305	D	0.000147	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7244	0.62750	0.0746:0.0:0.9254:0.0	.	.	.	.	X	32	.	ENSP00000254958:S32X	S	-	2	0	JAG1	10601641	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	9.800000	0.99124	1.255000	0.44051	0.462000	0.41574	TCG	JAG1	-	pfam_Notch_ligand_N	ENSG00000101384		0.647	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		-	0	137	0	G	NM_000214		10653641	-1	tier1	-	no_errors	ENST00000254958	ensembl	human	known	74_37	nonsense	21.43	121	33	SNP	1.000	T	T	10653641	G	T	10653641	4	4	181	1	0	0	0	0	0	1	0	0	7961	1059	37	2	3661	2	JAG1	20	10653641	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09		10653641	52371879	245	45145											
ABHD12	26090	genome.wustl.edu	37	chr20	25295561	25295561	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcaaaagaaatctcacCtctgtagtcaaaggtgacca	14	10	7	10	0	4	2	2	1	3	1	5	2	4	2	2	1	1	2	2	1	5	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:25295561C>T	ENST00000339157.5	-	6	891	c.619G>A	c.(619-621)Ggt>Agt	p.G207S	ABHD12_ENST00000376542.3_Splice_Site_p.G207S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	207					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						GAAATCTCACCTCTGTAGTCA	0.488																																																	0													140	126	131					20																	25295561		2203	4300	6503	SO:0001630	splice_region_variant	0			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.619+1G>A	20.37:g.25295561C>T			A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AB_hydrolase_3	p.G207S	ENST00000339157.5	37	c.619	CCDS42857.1	20	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040016	0.93630	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543;ENST00000450393	T;T;T	0.63913	0.72;-0.07;0.72	4.73	4.73	0.59995	.	0.097819	0.64402	D	0.000001	D	0.83445	0.5256	M	0.90977	3.165	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	0.87211	0.2247	9	.	.	.	-15.3819	17.5811	0.87968	0.0:1.0:0.0:0.0	.	162;207;207	Q5T712;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	S	207;207;169;162	ENSP00000365725:G207S;ENSP00000341408:G207S;ENSP00000413311:G162S	.	G	-	1	0	ABHD12	25243561	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.117000	0.77129	2.474000	0.83562	0.556000	0.70494	GGT	ABHD12	-	pfam_AB_hydrolase_1,pfam_AB_hydrolase_3	ENSG00000100997		0.488	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD12	HGNC	protein_coding	OTTHUMT00000078423.2	-	0	78	0	C	NM_015600	Missense_Mutation	25295561	-1	tier1	-	no_errors	ENST00000376542	ensembl	human	known	74_37	missense	14.29	66	11	SNP	1.000	T	T	25295561	C	T	25295561	5	4	181	1	0	0	0	0	0	0	1	0	76	695	24	3	671	3	ABHD12	20	25295561	Splice_Site	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	14641920	25295561	37729959	246	45146											
ASXL1	171023	genome.wustl.edu	37	chr20	31017787	31017787	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccctgggcagcgctgctAttcgtggccaggccgaggtc	4	8	16	13	3	0	0	0	0	0	0	2	1	0	0	3	5	2	3	3	5	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:31017787A>G	ENST00000375687.4	+	8	1073	c.649A>G	c.(649-651)Att>Gtt	p.I217V	ASXL1_ENST00000306058.5_Missense_Mutation_p.I212V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	217	Interaction with KDM1A. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGCGCTGCTATTCGTGGCCA	0.672			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													20	24	23					20																	31017787		2174	4255	6429	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.649A>G	20.37:g.31017787A>G	ENSP00000364839:p.Ile217Val		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.I217V	ENST00000375687.4	37	c.649	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	A	12.79	2.043271	0.36085	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000306058	T;T	0.12879	2.64;2.64	4.89	4.89	0.63831	.	0.287924	0.30068	N	0.010497	T	0.06826	0.0174	N	0.19112	0.55	0.23851	N	0.996665	B	0.23316	0.083	B	0.19148	0.024	T	0.35992	-0.9766	10	0.13108	T	0.6	-4.1839	4.4859	0.11790	0.7381:0.0:0.0899:0.172	.	217	Q8IXJ9	ASXL1_HUMAN	V	217;217;217;212	ENSP00000364839:I217V;ENSP00000305119:I212V	ENSP00000305119:I212V	I	+	1	0	ASXL1	30481448	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.094000	0.30951	2.192000	0.70111	0.533000	0.62120	ATT	ASXL1	-	NULL	ENSG00000171456		0.672	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0	42	0	A	NM_015338		31017787	1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	G	G	31017787	A	G	31017787	3	3	181	1	0	0	0	0	1	0	0	0	1067	449	16	4	685	4	ASXL1	20	31017787	Missense_Mutation	SNP	A	TCGA-Z6-A8JD-01A-11D-A36J-09	5722226	31017787	32007733	247	45147											
C20orf185	359710	genome.wustl.edu	37	chr20	31652538	31652538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccgtgccccagccaaggtgCcccccaagaaggaccacaca	11	2	9	19	1	0	1	0	0	0	1	0	2	0	2	8	2	3	0	8	2	3	0	rs201111989		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:31652538C>T	ENST00000375494.3	+	8	811	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	271					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGCCAAGGTGCCCCCCAAGAA	0.587																																																	0								C	SER/PRO	0,4406		0,0,2203	82	73	76		811	4.7	1	20		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BPIFB3	NM_182658.1	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	271/477	31652538	1,13005	2203	4300	6503	SO:0001583	missense	0			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.811C>T	20.37:g.31652538C>T	ENSP00000364643:p.Pro271Ser		Q5TDX7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.P271S	ENST00000375494.3	37	c.811	CCDS13212.1	20	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373164	0.61624	0.0	1.16E-4	ENSG00000186190	ENST00000375494	T	0.09630	2.96	4.73	4.73	0.59995	.	0.000000	0.53938	D	0.000043	T	0.33059	0.0850	M	0.77820	2.39	0.45056	D	0.998075	D	0.89917	1.0	D	0.91635	0.999	T	0.04621	-1.0938	10	0.72032	D	0.01	-20.4968	13.0653	0.59030	0.0:1.0:0.0:0.0	.	271	P59826	BPIB3_HUMAN	S	271	ENSP00000364643:P271S	ENSP00000364643:P271S	P	+	1	0	BPIFB3	31116199	0.998000	0.40836	0.993000	0.49108	0.624000	0.37722	3.597000	0.54031	2.461000	0.83175	0.655000	0.94253	CCC	BPIFB3	-	superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000186190		0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	HGNC	protein_coding	OTTHUMT00000078654.2		0	63	0	C	NM_182658		31652538	1			no_errors	ENST00000375494	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.997	T	T	31652538	C	T	31652538	3	4	181	1	0	0	0	0	1	0	0	0	2104	739	26	3	841	3	C20orf185	20	31652538	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	634751	31652538	31372982	248	45148											
MYH7B	57644	genome.wustl.edu	37	chr20	33581979	33581979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcaccatccagtggaacatCcgtgccttcaatgccgtcaa	10	10	7	14	2	3	0	3	0	0	0	5	1	5	1	5	1	3	0	5	1	3	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:33581979C>G	ENST00000262873.7	+	25	2693	c.2601C>G	c.(2599-2601)atC>atG	p.I867M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	825						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)			AGTGGAACATCCGTGCCTTCA	0.592																																																	0													110	118	115					20																	33581979		2136	4256	6392	SO:0001583	missense	0			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.2601C>G	20.37:g.33581979C>G	ENSP00000262873:p.Ile867Met		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I867M	ENST00000262873.7	37	c.2601	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528310	0.64860	.	.	ENSG00000078814	ENST00000262873	T	0.72835	-0.69	4.33	3.38	0.38709	.	0.000000	0.38663	N	0.001616	T	0.72581	0.3478	M	0.90369	3.11	0.39512	D	0.968379	P	0.50272	0.933	B	0.39876	0.312	T	0.81256	-0.1015	10	0.87932	D	0	.	10.6545	0.45667	0.0:0.8475:0.0:0.1525	.	825	A7E2Y1	MYH7B_HUMAN	M	867	ENSP00000262873:I867M	ENSP00000262873:I867M	I	+	3	3	MYH7B	33045640	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.883000	0.28200	2.399000	0.81585	0.561000	0.74099	ATC	MYH7B	-	superfamily_P-loop_NTPase	ENSG00000078814		0.592	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	-	0	46	0	C	NM_020884		33581979	1	tier1	-	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	6.90	54	4	SNP	1.000	G	G	33581979	C	G	33581979	3	3	181	1	0	0	0	0	1	0	0	0	10078	845	30	5	2699	5	MYH7B	20	33581979	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	1929441	33581979	29443541	249	45149											
MMP24	10893	genome.wustl.edu	37	chr20	33851658	33851658	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggactggagcactccagCgaccccagcgccatcatggc	8	5	12	16	2	1	0	1	0	0	0	2	3	2	2	4	3	3	1	4	3	0	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:33851658C>T	ENST00000246186.6	+	5	967	c.882C>T	c.(880-882)agC>agT	p.S294S	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000453892.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	294					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)	AGCACTCCAGCGACCCCAGCG	0.627																																																	0													30	31	31					20																	33851658		2202	4300	6502	SO:0001819	synonymous_variant	0			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.882C>T	20.37:g.33851658C>T			B7ZBG8|Q9H440	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.S294	ENST00000246186.6	37	c.882	CCDS46593.1	20																																																																																			MMP24	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A	ENSG00000125966		0.627	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	-	0	61	0	C	NM_006690		33851658	1	tier1	-	no_errors	ENST00000246186	ensembl	human	known	74_37	silent	9.59	66	7	SNP	0.996	T	T	33851658	C	T	33851658	2	4	181	1	0	0	0	0	0	0	0	1	9699	767	27	1		1	MMP24	20	33851658	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	269679	33851658	29173862	250	45150											
TTPAL	79183	genome.wustl.edu	37	chr20	43115331	43115331	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaaaccatttctaaaggaGaaaatagcaaacagagtaag	22	7	7	5	0	1	2	0	0	1	2	1	3	1	2	1	1	3	2	1	1	9	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:43115331G>C	ENST00000372904.3	+	5	878	c.735G>C	c.(733-735)gaG>gaC	p.E245D	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Missense_Mutation_p.E245D	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	245	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						TTCTAAAGGAGAAAATAGCAA	0.348																																																	0													70	67	68					20																	43115331		2203	4300	6503	SO:0001583	missense	0			BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 121"	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.735G>C	20.37:g.43115331G>C	ENSP00000361995:p.Glu245Asp		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.E245D	ENST00000372904.3	37	c.735	CCDS13332.2	20	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127750	0.56721	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000456317	D;D;D	0.85955	-2.05;-2.05;-2.05	5.93	4.99	0.66335	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.86883	0.6040	M	0.62088	1.915	0.80722	D	1	P;D	0.55385	0.928;0.971	P;P	0.56751	0.805;0.672	D	0.84785	0.0775	10	0.32370	T	0.25	-15.271	7.1385	0.25541	0.2808:0.0:0.7192:0.0	.	182;245	B2RA57;Q9BTX7	.;TTPAL_HUMAN	D	245;245;211	ENSP00000262605:E245D;ENSP00000361995:E245D;ENSP00000412720:E211D	ENSP00000262605:E245D	E	+	3	2	TTPAL	42548745	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.690000	0.61731	1.529000	0.49120	0.555000	0.69702	GAG	TTPAL	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000124120		0.348	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPAL	HGNC	protein_coding	OTTHUMT00000106886.2		0	63	0	G	NM_024331		43115331	1			no_errors	ENST00000262605	ensembl	human	known	74_37	missense	13.33	65	10	SNP	1.000	C	C	43115331	G	C	43115331	3	2	181	1	0	0	0	0	1	0	0	0	16786	933	33	5	745	5	TTPAL	20	43115331	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	9263673	43115331	19910189	251	45151											
ATP9A	10079	genome.wustl.edu	37	chr20	50235275	50235275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgggtgggggcacatCggcagcagactacggccggg	6	6	17	12	3	1	1	0	0	1	1	2	1	1	1	2	6	2	3	2	6	1	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:50235275C>A	ENST00000338821.5	-	21	2540	c.2276G>T	c.(2275-2277)cGa>cTa	p.R759L	ATP9A_ENST00000402822.1_Missense_Mutation_p.R638L|ATP9A_ENST00000311637.5_Missense_Mutation_p.R623L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	759					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						GGGGGCACATCGGCAGCAGAC	0.632																																																	0													38	40	39					20																	50235275		2203	4299	6502	SO:0001583	missense	0			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.2276G>T	20.37:g.50235275C>A	ENSP00000342481:p.Arg759Leu		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R759L	ENST00000338821.5	37	c.2276	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.395018	0.96009	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.79554	-1.28;-1.28;-1.28	5.35	5.35	0.76521	HAD-like domain (2);	0.049540	0.85682	N	0.000000	D	0.94272	0.8160	H	0.98276	4.19	0.80722	D	1	B;D	0.89917	0.397;1.0	B;D	0.91635	0.103;0.999	D	0.96468	0.9346	10	0.87932	D	0	-32.6966	19.0663	0.93113	0.0:1.0:0.0:0.0	.	638;759	O75110-2;O75110	.;ATP9A_HUMAN	L	623;759;638	ENSP00000309086:R623L;ENSP00000342481:R759L;ENSP00000385875:R638L	ENSP00000309086:R623L	R	-	2	0	ATP9A	49668682	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.454000	0.80714	2.493000	0.84123	0.655000	0.94253	CGA	ATP9A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000054793		0.632	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	-	0	88	0	C	NM_006045		50235275	-1	tier1	-	no_errors	ENST00000338821	ensembl	human	known	74_37	missense	6.58	71	5	SNP	1.000	A	A	50235275	C	A	50235275	3	1	181	1	0	0	0	0	1	0	0	0	1199	884	31	2	899	2	ATP9A	20	50235275	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	7119944	50235275	12790245	252	45152											
STX16	8675	genome.wustl.edu	37	chr20	57242559	57242559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtagcttgctgatgaccGtatggcactggtgtcaggca	7	11	13	10	1	1	2	1	2	0	0	1	2	1	2	2	3	2	6	2	3	2	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:57242559G>A	ENST00000371141.4	+	3	882	c.158G>A	c.(157-159)cGt>cAt	p.R53H	STX16_ENST00000355957.5_Missense_Mutation_p.R36H|STX16_ENST00000361770.5_Missense_Mutation_p.R36H|STX16_ENST00000358029.4_Missense_Mutation_p.R49H|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R53H|STX16_ENST00000361830.3_Missense_Mutation_p.R53H|STX16_ENST00000359617.4_5'UTR|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000371132.4_Missense_Mutation_p.R32H	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	53					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GCTGATGACCGTATGGCACTG	0.423																																																	0													122	112	115					20																	57242559		2203	4300	6503	SO:0001583	missense	0			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.158G>A	20.37:g.57242559G>A	ENSP00000360183:p.Arg53His		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R53H	ENST00000371141.4	37	c.158	CCDS13468.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.198196	0.94997	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000371141;ENST00000371132;ENST00000358029;ENST00000361830	T;T;T;T;T;T	0.54279	0.62;0.58;0.72;0.61;0.68;0.72	5.57	5.57	0.84162	.	0.000000	0.85682	U	0.000000	T	0.71567	0.3355	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.71870	0.917;0.975;0.967;0.972	T	0.72944	-0.4138	10	0.62326	D	0.03	.	18.5539	0.91075	0.0:0.0:1.0:0.0	.	49;36;32;53	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	H	36;36;53;32;49;53	ENSP00000348229:R36H;ENSP00000355408:R36H;ENSP00000360183:R53H;ENSP00000360173:R32H;ENSP00000350723:R49H;ENSP00000354445:R53H	ENSP00000432101:R53H	R	+	2	0	STX16	56675965	1.000000	0.71417	0.966000	0.40874	0.928000	0.56348	9.476000	0.97823	2.630000	0.89119	0.591000	0.81541	CGT	STX16-NPEPL1	-	NULL	ENSG00000254995		0.423	STX16-002	KNOWN	basic|CCDS	protein_coding	STX16-NPEPL1	HGNC	protein_coding	OTTHUMT00000080517.2	-	0	36	0	G	NM_001001433		57242559	1	tier1	-	no_errors	ENST00000530122	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	A	A	57242559	G	A	57242559	3	1	181	1	0	0	0	0	1	0	0	0	15386	1145	40	1	168	1	STX16	20	57242559	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	7007284	57242559	5782961	253	45153											
LAMA5	3911	genome.wustl.edu	37	chr20	60912869	60912869	+	Missense_Mutation	SNP	T	T	C	0	1	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	taggcactcacggacacagcTggggaagccgtgaaagccgg	11	4	15	11	3	1	1	1	1	0	0	1	3	1	3	2	5	3	2	2	5	3	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:60912869T>C	ENST00000252999.3	-	15	2083	c.2017A>G	c.(2017-2019)Agc>Ggc	p.S673G		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	673	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			CGGACACAGCTGGGGAAGCCG	0.662																																																	0													34	37	36					20																	60912869		2202	4291	6493	SO:0001583	missense	0			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.2017A>G	20.37:g.60912869T>C	ENSP00000252999:p.Ser673Gly		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.S673G	ENST00000252999.3	37	c.2017	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	T	4.305	0.055952	0.08291	.	.	ENSG00000130702	ENST00000252999	T	0.62639	0.01	5.13	-1.17	0.09648	EGF-like, laminin (4);	0.584825	0.18998	N	0.125406	T	0.52058	0.1711	L	0.49571	1.57	0.09310	N	0.999995	B	0.27013	0.166	B	0.31946	0.138	T	0.45425	-0.9262	10	0.27082	T	0.32	.	10.5284	0.44963	0.0:0.3121:0.0:0.6879	.	673	O15230	LAMA5_HUMAN	G	673	ENSP00000252999:S673G	ENSP00000252999:S673G	S	-	1	0	LAMA5	60346264	0.000000	0.05858	0.006000	0.13384	0.185000	0.23345	-0.445000	0.06845	-0.070000	0.12908	-0.248000	0.11899	AGC	LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	ENSG00000130702		0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2		0	53	0	T	NM_005560		60912869	-1			no_errors	ENST00000252999	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.000	C	C	60912869	T	C	60912869	3	2	181	1	0	0	0	0	1	0	0	0	8637	1580	55	4	9334	4	LAMA5	20	60912869	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	3670310	60912869	2112651	254	45154											
PRIC285	85441	genome.wustl.edu	37	chr20	62192573	62192573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggagcaggtgcagaggatGacctcatgccggtccagctc	9	6	14	12	1	1	2	1	1	0	1	3	4	2	4	3	4	4	3	3	4	0	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:62192573G>A	ENST00000467148.1	-	14	7077	c.7008C>T	c.(7006-7008)gtC>gtT	p.V2336V	HELZ2_ENST00000427522.2_Silent_p.V1767V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2336	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)										TGCAGAGGATGACCTCATGCC	0.612																																																	0													85	86	86					20																	62192573		2201	4300	6501	SO:0001819	synonymous_variant	0			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.7008C>T	20.37:g.62192573G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	superfamily_P-loop_NTPase	p.V2336	ENST00000467148.1	37	c.7008	CCDS33508.1	20																																																																																			HELZ2	-	superfamily_P-loop_NTPase	ENSG00000130589		0.612	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0	68	0	G	NM_001037335		62192573	-1	tier1	-	no_errors	ENST00000467148	ensembl	human	known	74_37	silent	12.31	56	8	SNP	0.996	A	A	62192573	G	A	62192573	2	1	181	1	0	0	0	0	0	0	0	1	12527	1277	45	3		3	PRIC285	20	62192573	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	1279704	62192573	832947	255	45155											
KRTAP22-2	100288287	genome.wustl.edu	37	chr21	31962621	31962621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaagttgcaggcatatcCagagttaccatattcagagc	13	9	10	9	1	1	2	1	0	0	2	2	3	2	3	2	2	3	4	2	2	4	5	rs372992485		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr21:31962621C>T	ENST00000382830.2	-	1	95	c.73G>A	c.(73-75)Gga>Aga	p.G25R	KRTAP6-3_ENST00000391624.1_5'Flank	NM_001164434.1	NP_001157906.1	Q3LI68	KR222_HUMAN	keratin associated protein 22-2	25						intermediate filament (GO:0005882)											CAGGCATATCCAGAGTTACCA	0.433																																																	0								C	ARG/GLY	0,1384		0,0,692	157	136	143		73	1.5	0	21		143	2,3180		0,2,1589	no	missense	KRTAP22-2	NM_001164434.1	125	0,2,2281	TT,TC,CC		0.0629,0.0,0.0438		25/46	31962621	2,4564	692	1591	2283	SO:0001583	missense	0			AB096950	CCDS46641.1	21q22.11	2009-11-23			ENSG00000206106	ENSG00000206106		"Keratin associated proteins"	37091	protein-coding gene	gene with protein product							Standard	NM_001164434		Approved	KAP22.2	uc021wih.1	Q3LI68	OTTHUMG00000065630	ENST00000382830.2:c.73G>A	21.37:g.31962621C>T	ENSP00000372281:p.Gly25Arg			Missense_Mutation	SNP	NULL	p.G25R	ENST00000382830.2	37	c.73	CCDS46641.1	21	.	.	.	.	.	.	.	.	.	.	C	9.947	1.218978	0.22373	0.0	6.29E-4	ENSG00000206106	ENST00000382830	.	.	.	4.31	1.52	0.23074	.	0.000000	0.33980	U	0.004373	T	0.40398	0.1115	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31696	-0.9934	6	0.87932	D	0	.	6.6207	0.22802	0.0:0.7035:0.0:0.2965	.	.	.	.	R	25	.	ENSP00000372281:G25R	G	-	1	0	KRTAP22-2	30884492	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.179000	0.16840	0.206000	0.20587	-0.672000	0.03802	GGA	KRTAP22-2	-	NULL	ENSG00000206106		0.433	KRTAP22-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP22-2	HGNC	protein_coding	OTTHUMT00000140633.2	-	0	82	0	C	XM_002343740		31962621	-1	tier1	-	no_errors	ENST00000382830	ensembl	human	known	74_37	missense	12.28	100	14	SNP	0.001	T	T	31962621	C	T	31962621	3	4	181	1	0	0	0	0	1	0	0	0	8568	603	21	3	68	3	KRTAP22-2	21	31962621	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09		31962621	16167274	256	45156											
SETD4	54093	genome.wustl.edu	37	chr21	37410456	37410456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagaaacataccttttgaaGcacagcattagtctcttcta	13	13	5	10	0	2	2	0	1	2	1	3	2	2	2	1	0	4	2	1	0	6	7			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr21:37410456G>T	ENST00000399215.1	-	9	2552	c.1180C>A	c.(1180-1182)Ctt>Att	p.L394I	SETD4_ENST00000399212.1_Missense_Mutation_p.L370I|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.L394I|AP000688.1_ENST00000600312.1_Intron			Q9NVD3	SETD4_HUMAN	SET domain containing 4	394				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						ACCTTTTGAAGCACAGCATTA	0.348																																																	0													153	148	149					21																	37410456		2203	4300	6503	SO:0001583	missense	0			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.1180C>A	21.37:g.37410456G>T	ENSP00000382163:p.Leu394Ile		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd	p.L394I	ENST00000399215.1	37	c.1180	CCDS13640.1	21	.	.	.	.	.	.	.	.	.	.	G	35	5.572869	0.96553	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.23754	1.89;1.89;1.89	5.79	5.79	0.91817	Rubisco LS methyltransferase, substrate-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.54159	0.1841	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.43360	-0.9396	10	0.27082	T	0.32	-25.5784	20.0212	0.97504	0.0:0.0:1.0:0.0	.	370;394	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	I	394;370;394	ENSP00000382163:L394I;ENSP00000382161:L370I;ENSP00000329189:L394I	ENSP00000329189:L394I	L	-	1	0	SETD4	36332326	1.000000	0.71417	0.794000	0.32065	0.606000	0.37113	6.376000	0.73141	2.735000	0.93741	0.561000	0.74099	CTT	SETD4	-	pfam_Rubisco_LSMT_subst-bd,pirsf_Lys_MTase_YDR198C_prd	ENSG00000185917		0.348	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD4	HGNC	protein_coding	OTTHUMT00000194456.1	-	0	85	0	G	NM_017438		37410456	-1	tier1	-	no_errors	ENST00000332131	ensembl	human	known	74_37	missense	5.08	112	6	SNP	0.996	T	T	37410456	G	T	37410456	3	4	181	1	0	0	0	0	1	0	0	0	14178	971	34	3	150	3	SETD4	21	37410456	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	5447835	37410456	10719439	257	45157											
PDE9A	5152	genome.wustl.edu	37	chr21	44153470	44153470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttttcattcctagagcaTtcaaaatcaatgaactgaaa	15	14	4	8	0	4	3	3	2	1	1	5	3	5	3	1	0	2	1	1	0	6	5			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr21:44153470T>C	ENST00000291539.6	+	7	562	c.502T>C	c.(502-504)Ttc>Ctc	p.F168L	PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398229.3_Missense_Mutation_p.F34L|PDE9A_ENST00000335512.4_Missense_Mutation_p.F108L|PDE9A_ENST00000328862.6_Missense_Mutation_p.F142L|PDE9A_ENST00000349112.3_Missense_Mutation_p.F40L|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000398232.3_Missense_Mutation_p.F101L|PDE9A_ENST00000398236.3_Missense_Mutation_p.F82L|PDE9A_ENST00000398234.3_Missense_Mutation_p.F67L|PDE9A_ENST00000398224.3_Missense_Mutation_p.F41L|PDE9A_ENST00000398225.3_Missense_Mutation_p.F127L|PDE9A_ENST00000398227.3_Missense_Mutation_p.F8L|PDE9A_ENST00000380328.2_Missense_Mutation_p.F115L|PDE9A_ENST00000539837.1_Missense_Mutation_p.F40L|PDE9A_ENST00000335440.6_Missense_Mutation_p.F66L	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	168					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)	TCCTAGAGCATTCAAAATCAA	0.413																																																	0													111	101	105					21																	44153470		2203	4300	6503	SO:0001583	missense	0			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.502T>C	21.37:g.44153470T>C	ENSP00000291539:p.Phe168Leu		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.F168L	ENST00000291539.6	37	c.502	CCDS13690.1	21	.	.	.	.	.	.	.	.	.	.	T	12.56	1.975949	0.34848	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72615	-0.38;-0.67;-0.56;-0.58;-0.63;-0.49;-0.46;-0.57;-0.43;-0.56;-0.6;-0.39;-0.64;-0.53	5.61	5.61	0.85477	.	27.069100	0.00166	U	0.000006	T	0.78149	0.4238	L	0.32530	0.975	0.38563	D	0.94974	D;B;B;D;D;D;P;D;P;D;D;P;D;P	0.64830	0.994;0.331;0.281;0.982;0.994;0.994;0.658;0.994;0.858;0.994;0.984;0.652;0.994;0.947	D;B;B;P;D;P;B;P;P;P;P;P;P;P	0.64687	0.928;0.263;0.19;0.853;0.928;0.884;0.331;0.884;0.465;0.775;0.785;0.55;0.884;0.576	T	0.64309	-0.6438	10	0.10377	T	0.69	.	14.0219	0.64560	0.0:0.0:0.0:1.0	.	101;82;67;142;127;60;108;8;34;40;66;115;41;168	O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	L	108;40;168;115;101;67;82;142;66;127;34;8;40;41	ENSP00000335242:F108L;ENSP00000441899:F40L;ENSP00000291539:F168L;ENSP00000369685:F115L;ENSP00000381287:F101L;ENSP00000381289:F67L;ENSP00000381291:F82L;ENSP00000328699:F142L;ENSP00000335365:F66L;ENSP00000381281:F127L;ENSP00000381285:F34L;ENSP00000381283:F8L;ENSP00000344730:F40L;ENSP00000381280:F41L	ENSP00000291539:F168L	F	+	1	0	PDE9A	43026539	1.000000	0.71417	0.879000	0.34478	0.611000	0.37282	4.800000	0.62524	2.123000	0.65237	0.482000	0.46254	TTC	PDE9A	-	NULL	ENSG00000160191		0.413	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	-	0	126	0	T			44153470	1	tier1	-	no_errors	ENST00000291539	ensembl	human	known	74_37	missense	19.53	103	25	SNP	0.978	C	C	44153470	T	C	44153470	3	2	181	1	0	0	0	0	1	0	0	0	11694	1493	52	4	608	4	PDE9A	21	44153470	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	6743014	44153470	3976425	258	45158											
KLHL22	84861	genome.wustl.edu	37	chr22	20825674	20825674	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccagtgtctcttgtacaTtgctcaggctgagctccagc	7	11	9	14	0	2	1	1	1	1	0	4	1	3	1	3	1	4	4	3	1	1	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr22:20825674T>A	ENST00000328879.4	-	3	512	c.356A>T	c.(355-357)aAt>aTt	p.N119I	KLHL22_ENST00000440659.2_Intron	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	119					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTCTTGTACATTGCTCAGGCT	0.537																																																	0													95	82	87					22																	20825674		2203	4300	6503	SO:0001583	missense	0				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.356A>T	22.37:g.20825674T>A	ENSP00000331682:p.Asn119Ile		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.N119I	ENST00000328879.4	37	c.356	CCDS13780.1	22	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866019	0.51588	.	.	ENSG00000099910	ENST00000328879;ENST00000451553;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.3	5.3	0.74995	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.201415	0.52532	D	0.000063	T	0.74543	0.3730	M	0.83118	2.625	0.80722	D	1	B	0.30211	0.273	B	0.34093	0.175	T	0.77070	-0.2724	10	0.87932	D	0	.	13.2002	0.59763	0.0:0.0:0.0:1.0	.	119	Q53GT1	KLH22_HUMAN	I	119;42;151;119;153;119	ENSP00000331682:N119I;ENSP00000400095:N42I;ENSP00000403999:N151I;ENSP00000398616:N119I;ENSP00000397882:N153I;ENSP00000409092:N119I	ENSP00000331682:N119I	N	-	2	0	KLHL22	19155674	0.981000	0.34729	0.996000	0.52242	0.981000	0.71138	1.848000	0.39309	2.007000	0.58848	0.528000	0.53228	AAT	KLHL22	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000099910		0.537	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL22	HGNC	protein_coding	OTTHUMT00000320045.2	-	0	60	0	T	NM_032775		20825674	-1	tier1	-	no_errors	ENST00000328879	ensembl	human	known	74_37	missense	48.96	49	47	SNP	0.997	A	A	20825674	T	A	20825674	3	1	181	1	0	0	0	0	1	0	0	0	8404	1493	52	5	1568	5	KLHL22	22	20825674	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09		20825674	30478892	259	45159											
PI4KA	5297	genome.wustl.edu	37	chr22	21174836	21174836	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatactcgtacctttgtcttGaatctccaaggcctggcaca	9	12	8	12	1	2	1	0	1	2	0	4	2	2	1	3	2	2	2	3	2	4	4	rs371865226		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr22:21174836G>C	ENST00000572273.1	-	5	576	c.346C>G	c.(346-348)Caa>Gaa	p.Q116E	PI4KA_ENST00000255882.6_Missense_Mutation_p.Q174E			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	116					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)			CCTTTGTCTTGAATCTCCAAG	0.388																																					GBM(136;1332 1831 3115 23601 50806)												0													111	104	106					22																	21174836		2203	4300	6503	SO:0001583	missense	0			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.346C>G	22.37:g.21174836G>C	ENSP00000458238:p.Gln116Glu		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q174E	ENST00000572273.1	37	c.520		22	.	.	.	.	.	.	.	.	.	.	G	9.359	1.067542	0.20067	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.57	5.57	0.84162	.	0.113491	0.64402	D	0.000010	T	0.54447	0.1859	L	0.45581	1.43	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.15052	0.012;0.01	T	0.54351	-0.8307	9	0.02654	T	1	-13.4334	19.918	0.97070	0.0:0.0:1.0:0.0	.	174;116	D3DX33;P42356	.;PI4KA_HUMAN	E	116	.	ENSP00000255882:Q116E	Q	-	1	0	PI4KA	19504836	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.979000	0.93455	2.785000	0.95823	0.591000	0.81541	CAA	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.388	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0	69	0	G	NM_058004		21174836	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	11.76	120	16	SNP	1.000	C	C	21174836	G	C	21174836	3	2	181	1	0	0	0	0	1	0	0	0	11912	1299	45	5	5992	5	PI4KA	22	21174836	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	349162	21174836	30129730	260	45160											
SUSD2	56241	genome.wustl.edu	37	chr22	24583631	24583631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccaagcacgaccccaccttcGagcccctcttccccagtgag	8	6	7	20	2	1	1	0	1	1	0	3	3	2	1	8	0	2	1	8	0	1	2	rs372525863		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr22:24583631G>C	ENST00000358321.3	+	12	2245	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	662	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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						CCCCACCTTCGAGCCCCTCTT	0.577																																																	0													141	124	130					22																	24583631		2203	4300	6503	SO:0001583	missense	0			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.1984G>C	22.37:g.24583631G>C	ENSP00000351075:p.Glu662Gln		Q9H5Y6	Missense_Mutation	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.E662Q	ENST00000358321.3	37	c.1984	CCDS13824.1	22	.	.	.	.	.	.	.	.	.	.	g	7.192	0.591716	0.13812	.	.	ENSG00000099994	ENST00000358321	T	0.20069	2.1	4.52	-5.93	0.02254	von Willebrand factor, type D domain (1);	1.129380	0.06453	N	0.728071	T	0.05318	0.0141	N	0.01048	-1.04	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41215	-0.9521	10	0.13470	T	0.59	-3.1022	7.5143	0.27592	0.4208:0.355:0.2242:0.0	.	662	Q9UGT4	SUSD2_HUMAN	Q	662	ENSP00000351075:E662Q	ENSP00000351075:E662Q	E	+	1	0	SUSD2	22913631	0.003000	0.15002	0.003000	0.11579	0.842000	0.47809	0.019000	0.13444	-1.218000	0.02601	-0.292000	0.09595	GAG	SUSD2	-	NULL	ENSG00000099994		0.577	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	-	0	49	0	G	NM_019601		24583631	1	tier1	-	no_errors	ENST00000358321	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.305	C	C	24583631	G	C	24583631	3	2	181	1	0	0	0	0	1	0	0	0	15455	1059	37	5	2030	5	SUSD2	22	24583631	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	3408795	24583631	26720935	261	45161											
CCDC157	550631	genome.wustl.edu	37	chr22	30772437	30772437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggcctctgggcagacaGcaccttcctagcagcaggac	9	7	11	14	0	2	1	1	0	1	1	3	2	3	2	3	3	3	4	3	3	1	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr22:30772437G>A	ENST00000405659.1	+	12	2671	c.1962G>A	c.(1960-1962)caG>caA	p.Q654Q	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Silent_p.Q654Q			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	654										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGGGCAGACAGCACCTTCCTA	0.622																																																	0													111	112	111					22																	30772437		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1962G>A	22.37:g.30772437G>A			Q0VD76|Q9BYA4	Silent	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.Q654	ENST00000405659.1	37	c.1962	CCDS33632.2	22																																																																																			CCDC157	-	NULL	ENSG00000187860		0.622	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC157	HGNC	protein_coding	OTTHUMT00000320936.1		0	99	0	G	NM_001017437		30772437	1			no_errors	ENST00000338306	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.021	A	A	30772437	G	A	30772437	2	1	181	1	0	0	0	0	0	0	0	1	2796	962	34	3		3	CCDC157	22	30772437	Silent	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	6188806	30772437	20532129	262	45162											
SFI1	9814	genome.wustl.edu	37	chr22	32009828	32009828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggctgctgaggagcccCacgccctggagctgtgagta	6	7	15	13	1	0	2	0	2	0	0	0	4	0	4	4	3	3	4	4	3	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr22:32009828C>A	ENST00000400288.2	+	27	3088	c.2983C>A	c.(2983-2985)Cac>Aac	p.H995N	SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000540643.1_Missense_Mutation_p.H940N|SFI1_ENST00000432498.1_Missense_Mutation_p.H964N|SFI1_ENST00000400289.1_Missense_Mutation_p.H913N|SFI1_ENST00000443011.1_Missense_Mutation_p.H842N|SFI1_ENST00000443326.1_Missense_Mutation_p.H913N|SFI1_ENST00000414585.1_Missense_Mutation_p.H842N	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	995					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						TGAGGAGCCCCACGCCCTGGA	0.647											OREG0003527	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													17	20	19					22																	32009828		2082	4219	6301	SO:0001583	missense	0			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.2983C>A	22.37:g.32009828C>A	ENSP00000383145:p.His995Asn	829	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	superfamily_Cyclin-like	p.H995N	ENST00000400288.2	37	c.2983	CCDS43004.1	22	.	.	.	.	.	.	.	.	.	.	C	8.054	0.766593	0.15983	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.13778	3.12;3.12;2.95;2.92;2.94;2.95;3.11;2.56	5.19	1.8	0.24995	.	1.867200	0.02177	N	0.060169	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	P;B;P;B;B	0.48294	0.491;0.372;0.908;0.306;0.372	B;B;B;B;B	0.42653	0.108;0.074;0.394;0.079;0.163	T	0.15838	-1.0423	10	0.27785	T	0.31	.	4.3935	0.11351	0.0:0.5252:0.1642:0.3106	.	940;901;913;964;995	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	N	964;940;913;744;842;842;913;995;578	ENSP00000402679:H964N;ENSP00000443025:H940N;ENSP00000416469:H913N;ENSP00000397148:H842N;ENSP00000401199:H842N;ENSP00000383146:H913N;ENSP00000383145:H995N;ENSP00000398871:H578N	ENSP00000383145:H995N	H	+	1	0	SFI1	30339828	0.000000	0.05858	0.042000	0.18584	0.010000	0.07245	0.193000	0.17116	0.495000	0.27882	0.462000	0.41574	CAC	SFI1	-	NULL	ENSG00000198089		0.647	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3	-	0	116	0	C	NM_014775		32009828	1	tier1	-	no_errors	ENST00000400288	ensembl	human	known	74_37	missense	11.36	78	10	SNP	0.007	A	A	32009828	C	A	32009828	3	1	181	1	0	0	0	0	1	0	0	0	14201	594	21	3	3085	3	SFI1	22	32009828	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	1237391	32009828	19294738	263	45163											
RPL3	6122	genome.wustl.edu	37	chr22	39714546	39714546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgcctgctgctgcgcttccGaggcaggaagccgagggacc	7	6	15	13	3	0	0	0	0	0	0	1	4	1	2	4	3	5	4	4	3	1	1			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr22:39714546G>C	ENST00000216146.4	-	2	228	c.55C>G	c.(55-57)Cgg>Ggg	p.R19G	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_5'UTR|SNORD43_ENST00000583861.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	19					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|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)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	CTGCGCTTCCGAGGCAGGAAG	0.587																																																	0													21	20	21					22																	39714546		2199	4291	6490	SO:0001583	missense	0			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.55C>G	22.37:g.39714546G>C	ENSP00000346001:p.Arg19Gly		B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_B-barrel	p.R19G	ENST00000216146.4	37	c.55	CCDS13988.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.852493|4.852493	0.91355|0.91355	.|.	.|.	ENSG00000100316|ENSG00000100316	ENST00000216146;ENST00000453303|ENST00000427905	T;T|.	0.51817|.	0.69;0.69|.	4.17|4.17	4.17|4.17	0.49024|0.49024	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84474|0.84474	0.5480|0.5480	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	P;P|.	0.41597|.	0.756;0.465|.	B;B|.	0.40038|.	0.282;0.317|.	D|D	0.88746|0.88746	0.3247|0.3247	10|5	0.87932|.	D|.	0|.	.|.	16.6841|16.6841	0.85300|0.85300	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	19;19|.	P39023;B3KS36|.	RL3_HUMAN;.|.	G|W	19;46|50	ENSP00000346001:R19G;ENSP00000415198:R46G|.	ENSP00000346001:R19G|.	R|S	-|-	1|2	2|0	RPL3|RPL3	38044492|38044492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	7.321000|7.321000	0.79088|0.79088	2.153000|2.153000	0.67306|0.67306	0.455000|0.455000	0.32223|0.32223	CGG|TCG	RPL3	-	superfamily_Transl_B-barrel	ENSG00000100316		0.587	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3	HGNC	protein_coding	OTTHUMT00000321196.1	-	0	116	0	G	NM_000967		39714546	-1	tier1	-	no_errors	ENST00000216146	ensembl	human	known	74_37	missense	6.16	137	9	SNP	1.000	C	C	39714546	G	C	39714546	3	2	181	1	0	0	0	0	1	0	0	0	13624	1057	37	5	1192	5	RPL3	22	39714546	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	7704718	39714546	11590020	264	45164											
FANCB	2187	genome.wustl.edu	37	chrX	14863402	14863402	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgataaagtcacatcattCagggacctgtaaaaaaccca	18	8	6	9	0	3	1	3	1	0	0	3	2	3	2	2	1	1	1	2	1	6	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:14863402C>G	ENST00000324138.3	-	7	1656	c.1503G>C	c.(1501-1503)ctG>ctC	p.L501L	FANCB_ENST00000398334.1_Silent_p.L501L	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	501					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TCACATCATTCAGGGACCTGT	0.323								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													54	54	54					X																	14863402		2195	4280	6475	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1503G>C	X.37:g.14863402C>G			B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	NULL	p.L501	ENST00000324138.3	37	c.1503	CCDS14161.1	X																																																																																			FANCB	-	NULL	ENSG00000181544		0.323	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	-	0	35	0	C	NM_152633		14863402	-1	tier1	-	no_errors	ENST00000324138	ensembl	human	known	74_37	silent	20.51	31	8	SNP	0.000	G	G	14863402	C	G	14863402	2	3	181	1	0	0	0	0	0	0	0	1	5685	813	29	5		5	FANCB	23	14863402	Silent	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09		14863402	140407158	265	45165											
MOSPD2	158747	genome.wustl.edu	37	chrX	14929398	14929398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaccactagtagatgatGacttccagaccccactgtgt	11	10	7	13	0	0	4	0	2	0	2	2	4	2	4	5	0	0	1	5	0	2	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:14929398G>T	ENST00000380492.3	+	9	830	c.742G>T	c.(742-744)Gac>Tac	p.D248Y	MOSPD2_ENST00000482354.1_Missense_Mutation_p.D248Y|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	248						integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGTAGATGATGACTTCCAGAC	0.393																																																	0													167	158	161					X																	14929398		2203	4300	6503	SO:0001583	missense	0			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.742G>T	X.37:g.14929398G>T	ENSP00000369860:p.Asp248Tyr		Q8N3H2|Q8NA83	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom	p.D248Y	ENST00000380492.3	37	c.742	CCDS14162.1	X	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203793	0.79127	.	.	ENSG00000130150	ENST00000380492	T	0.60672	0.17	5.0	5.0	0.66597	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80155	-0.1500	10	0.87932	D	0	.	17.3167	0.87226	0.0:0.0:1.0:0.0	.	248	Q8NHP6	MSPD2_HUMAN	Y	248	ENSP00000369860:D248Y	ENSP00000369860:D248Y	D	+	1	0	MOSPD2	14839319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.802000	0.91910	2.201000	0.70794	0.594000	0.82650	GAC	MOSPD2	-	superfamily_CRAL-TRIO_dom	ENSG00000130150		0.393	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1	-	0	68	0	G	NM_152581		14929398	1	tier1	-	no_errors	ENST00000380492	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	14929398	G	T	14929398	3	4	181	1	0	0	0	0	1	0	0	0	9754	1290	45	3	776	3	MOSPD2	23	14929398	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	65996	14929398	140341162	266	45166											
ASB11	140456	genome.wustl.edu	37	chrX	15320924	15320924	+	Missense_Mutation	SNP	A	A	C	1	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	aagtggggatcgatcagcccAgcaatctgaaacacaaatca	16	6	9	10	1	3	1	2	1	1	0	4	3	3	2	1	2	3	1	1	2	4	0			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:15320924A>C	ENST00000480796.1	-	2	237	c.187T>G	c.(187-189)Tgg>Ggg	p.W63G	ASB11_ENST00000344384.4_Missense_Mutation_p.W42G|ASB11_ENST00000537676.1_Missense_Mutation_p.W42G|ASB11_ENST00000380470.3_Missense_Mutation_p.W63G			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	63					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CGATCAGCCCAGCAATCTGAA	0.488																																																	0													84	74	78					X																	15320924		2203	4300	6503	SO:0001583	missense	0			AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"Ankyrin repeat domain containing"	17186	protein-coding gene	gene with protein product		300626	"ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box containing 11"			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.187T>G	X.37:g.15320924A>C	ENSP00000417914:p.Trp63Gly		E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.W63G	ENST00000480796.1	37	c.187	CCDS14164.1	X	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845793	0.71603	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.69	5.69	0.88448	Ankyrin repeat-containing domain (1);	0.000000	0.64402	D	0.000007	T	0.62454	0.2429	M	0.61703	1.905	0.58432	D	0.999999	D;D;D	0.76494	0.982;0.997;0.999	P;D;D	0.80764	0.852;0.986;0.994	T	0.59161	-0.7506	10	0.14252	T	0.57	-10.1457	13.6886	0.62531	1.0:0.0:0.0:0.0	.	63;63;42	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	G	42;63;42;63	ENSP00000445465:W42G;ENSP00000369837:W63G;ENSP00000343408:W42G;ENSP00000417914:W63G	ENSP00000343408:W42G	W	-	1	0	ASB11	15230845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.598000	0.82745	1.912000	0.55364	0.486000	0.48141	TGG	ASB11	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000165192		0.488	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB11	HGNC	protein_coding	OTTHUMT00000055852.2	-	0	53	0	A			15320924	-1	tier1	-	no_errors	ENST00000480796	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	C	C	15320924	A	C	15320924	3	2	181	1	0	0	0	0	1	0	0	0	1016	188	7	4	808	4	ASB11	23	15320924	Missense_Mutation	SNP	A	TCGA-Z6-A8JD-01A-11D-A36J-09	391526	15320924	139949636	267	45167											
KDM6A	7403	genome.wustl.edu	37	chrX	44949070	44949070	+	Frame_Shift_Del	DEL	A	A	-																															atgttccagtgtataggtttAttcagcgacctggagatttg																								rs367565349		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:44949070delA	ENST00000377967.4	+	25	3672	c.3631delA	c.(3631-3633)attfs	p.I1211fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.I1218fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.I1166fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.I1132fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1211	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						GTATAGGTTTATTCAGCGACC	0.393			"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																	44949070		2203	4300	6503	SO:0001589	frameshift_variant	0			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.3631delA	X.37:g.44949070delA	ENSP00000367203:p.Ile1211fs		Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I1218fs	ENST00000377967.4	37	c.3652	CCDS14265.1	X																																																																																			KDM6A	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000147050		0.393	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1		0	90	0	A	NM_021140		44949070	1	tier1		no_errors	ENST00000382899	ensembl	human	known	74_37	frame_shift_del	17.65	56	12	DEL	1.000	-	-	44949070	A	-	44949070	7	5	181	1	0	1	0	1	0	0	0	0	8164	449	16	0	3729	0	KDM6A	23	44949070	Frame_Shift_Del	DEL	A	TCGA-Z6-A8JD-01A-11D-A36J-09	29628146	44949070	110321490	268	45168											
PHF16	9767	genome.wustl.edu	37	chrX	46915568	46915568	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaacagatcttcggtttgCaagtccagcttcttaaccaa	12	11	8	10	1	2	1	0	0	2	1	4	2	3	2	2	2	4	3	2	2	4	4			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:46915568C>T	ENST00000218343.4	+	10	1826	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*	PHF16_ENST00000397189.1_Nonsense_Mutation_p.Q510*	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTTCGGTTTGCAAGTCCAGCT	0.383																																																	0													113	93	100					X																	46915568		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000218343.4:c.1528C>T	X.37:g.46915568C>T	ENSP00000218343:p.Gln510*			Nonsense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q510*	ENST00000218343.4	37	c.1528	CCDS14271.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.590433	0.97688	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	.	.	.	5.77	4.88	0.63580	.	0.144416	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	15.6746	0.77307	0.0:0.8663:0.1337:0.0	.	.	.	.	X	510	.	ENSP00000218343:Q510X	Q	+	1	0	PHF16	46800512	1.000000	0.71417	0.862000	0.33874	0.240000	0.25518	4.578000	0.60929	1.145000	0.42336	0.600000	0.82982	CAA	PHF16	-	NULL	ENSG00000102221		0.383	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	-	0	75	0	C			46915568	1	tier1	-	no_errors	ENST00000218343	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	1.000	T	T	46915568	C	T	46915568	4	4	181	1	0	0	0	0	0	1	0	0	11866	711	25	3	1562	3	PHF16	23	46915568	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	1966498	46915568	108354992	269	45169											
CACNA1F	778	genome.wustl.edu	37	chrX	49076202	49076202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accccctgcaccctcttcctCttcttcctcttcttcctctt	2	17	1	21	0	6	0	0	0	6	0	9	0	9	0	6	0	1	1	6	0	0	6	rs59355923		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:49076202C>G	ENST00000376265.2	-	20	2528	c.2467G>C	c.(2467-2469)Gag>Cag	p.E823Q	CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E812Q|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E758Q	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	823	Poly-Glu.				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)	Ccctcttcctcttcttcctct	0.512																																																	0													166	122	137					X																	49076202		2200	4294	6494	SO:0001583	missense	0			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.2467G>C	X.37:g.49076202C>G	ENSP00000365441:p.Glu823Gln		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E823Q	ENST00000376265.2	37	c.2467	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	2.880	-0.231989	0.05983	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	T;T;T	0.13420	2.59;2.59;2.59	.	.	.	.	0.428676	0.26075	N	0.026489	T	0.13114	0.0318	M	0.84511	2.7	0.09310	N	1	P;B	0.36144	0.539;0.182	B;B	0.20767	0.031;0.014	T	0.15521	-1.0434	8	0.39692	T	0.17	.	.	.	.	.	812;823	F5CIQ9;O60840	.;CAC1F_HUMAN	Q	758;812;823	ENSP00000365427:E758Q;ENSP00000321618:E812Q;ENSP00000365441:E823Q	ENSP00000321618:E812Q	E	-	1	0	CACNA1F	48963146	0.029000	0.19370	0.004000	0.12327	0.122000	0.20287	1.505000	0.35736	0.000000	0.14550	0.000000	0.15137	GAG	CACNA1F	-	NULL	ENSG00000102001		0.512	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1		0	20	0	C	NM_005183		49076202	-1			no_errors	ENST00000376265	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.008	G	G	49076202	C	G	49076202	3	3	181	1	0	0	0	0	1	0	0	0	2550	922	32	5	3582	5	CACNA1F	23	49076202	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	2160634	49076202	106194358	270	45170											
IL2RG	3561	genome.wustl.edu	37	chrX	70327739	70327739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtagtctggctgcagactCtcagccagtcccttagacac	8	10	9	14	0	2	2	1	0	2	2	4	2	3	2	2	1	2	3	2	1	2	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:70327739C>G	ENST00000374202.2	-	8	1048	c.957G>C	c.(955-957)gaG>gaC	p.E319D	IL2RG_ENST00000456850.2_Missense_Mutation_p.E129D|CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000374188.3_Missense_Mutation_p.E48D	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	319					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GCTGCAGACTCTCAGCCAGTC	0.582									Severe Combined Immunodeficiency, X-linked																																								0													36	31	33					X																	70327739		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Agammaglobulinemia, Swiss Type	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6010	protein-coding gene	gene with protein product		308380	"severe combined immunodeficiency", "combined immunodeficiency, X-linked"	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.957G>C	X.37:g.70327739C>G	ENSP00000363318:p.Glu319Asp		Q5FC12	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E319D	ENST00000374202.2	37	c.957	CCDS14406.1	X	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198968	0.58126	.	.	ENSG00000147168	ENST00000374202;ENST00000456850;ENST00000374188	D;D;D	0.98075	-3.92;-4.7;-1.93	4.39	1.56	0.23342	.	0.131561	0.51477	D	0.000090	D	0.97823	0.9285	M	0.70275	2.135	0.29214	N	0.874372	D;D;D	0.76494	0.996;0.999;0.996	D;D;D	0.72625	0.978;0.939;0.978	D	0.94251	0.7493	10	0.66056	D	0.02	-20.591	7.5152	0.27596	0.0:0.6964:0.0:0.3036	.	129;319;48	Q5FC12;P31785;Q5FC10	.;IL2RG_HUMAN;.	D	319;129;48	ENSP00000363318:E319D;ENSP00000388967:E129D;ENSP00000363303:E48D	ENSP00000363303:E48D	E	-	3	2	IL2RG	70244464	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	0.525000	0.22956	0.345000	0.23873	0.468000	0.43344	GAG	IL2RG	-	NULL	ENSG00000147168		0.582	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RG	HGNC	protein_coding	OTTHUMT00000057102.2	-	0	154	0	C			70327739	-1	tier1	-	no_errors	ENST00000374202	ensembl	human	known	74_37	missense	21.94	119	34	SNP	0.996	G	G	70327739	C	G	70327739	3	3	181	1	0	0	0	0	1	0	0	0	7715	912	32	5	156	5	IL2RG	23	70327739	Missense_Mutation	SNP	C	TCGA-Z6-A8JD-01A-11D-A36J-09	21251537	70327739	84942821	271	45171											
MAGT1	84061	genome.wustl.edu	37	chrX	77112967	77112967	+	Missense_Mutation	SNP	T	T	A																															cccttttgcaggaaagttgaTgaaagttggagctgaattca																										TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:77112967T>A	ENST00000358075.6	-	4	600	c.514A>T	c.(514-516)Atc>Ttc	p.I172F		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	140	Thioredoxin.				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						GGAAAGTTGATGAAAGTTGGA	0.403																																																	0													121	111	114					X																	77112967		2203	4296	6499	SO:0001583	missense	0				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	ENST00000358075.6:c.514A>T	X.37:g.77112967T>A	ENSP00000354649:p.Ile172Phe		B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.I172F	ENST00000358075.6	37	c.514	CCDS14436.2	X	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891364	0.33442	.	.	ENSG00000102158	ENST00000358075;ENST00000453109	T	0.24538	1.85	4.85	4.85	0.62838	Thioredoxin-like fold (2);	0.195297	0.42420	U	0.000718	T	0.16471	0.0396	N	0.25890	0.77	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.04723	-1.0931	10	0.07482	T	0.82	-10.7346	13.297	0.60303	0.0:0.0:0.0:1.0	.	140	Q9H0U3	MAGT1_HUMAN	F	172;23	ENSP00000354649:I172F	ENSP00000354649:I172F	I	-	1	0	MAGT1	76999623	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.119000	0.50422	1.591000	0.50007	0.417000	0.27973	ATC	MAGT1	-	superfamily_Thioredoxin-like_fold	ENSG00000102158		0.403	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057301.2	-	0	106	0	T	NM_032121		77112967	-1	tier1	-	no_errors	ENST00000358075	ensembl	human	known	74_37	missense	32.26	63	30	SNP	1.000	A	A	77112967	T	A	77112967	3	1	181	1	0	0	0	0	1	0	0	0	9234	1464	51	5	617	5	MAGT1	23	77112967	Missense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	6785228	77112967	78157593	272	45172	155	2									
MAGT1	84061	genome.wustl.edu	37	chrX	77112972	77112974	+	In_Frame_Del	DEL	GTT	GTT	-																															ttgcaggaaagttgatgaaaGttggagctgaattcatgttt																										TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	GTT	GTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:77112972_77112974delGTT	ENST00000358075.6	-	4	593_595	c.507_509delAAC	c.(505-510)ccaact>cct	p.T170del		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	138	Thioredoxin.				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						GTTGATGAAAGTTGGAGCTGAAT	0.399																																																	0																																										SO:0001651	inframe_deletion	0				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	ENST00000358075.6:c.507_509delAAC	X.37:g.77112972_77112974delGTT	ENSP00000354649:p.Thr170del		B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	In_Frame_Del	DEL	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.T170in_frame_del	ENST00000358075.6	37	c.509_507	CCDS14436.2	X																																																																																			MAGT1	-	superfamily_Thioredoxin-like_fold	ENSG00000102158		0.399	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057301.2		0	103	0	GTT	NM_032121		77112974	-1	tier1		no_errors	ENST00000358075	ensembl	human	known	74_37	in_frame_del	29.59	69	29	DEL	1.000:1.000:0.907	-	-	77112974	GTT	-	77112972	7	5	181	1	0	1	0	1	0	0	0	0	9234	1029	36	0	622	0	MAGT1	23	77112972	In_Frame_Del	DEL	GTT	TCGA-Z6-A8JD-01A-11D-A36J-09	5	77112972	78157588	273	45173	155	2									
P2RY10	27334	genome.wustl.edu	37	chrX	78216383	78216383	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacatgtatgccagcatttgTttcctgacgtgcatcagtct	9	14	8	10	1	2	1	1	1	1	0	3	1	3	1	2	0	4	4	2	0	2	3			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:78216383T>A	ENST00000171757.2	+	4	646	c.366T>A	c.(364-366)tgT>tgA	p.C122*	P2RY10_ENST00000544091.1_Nonsense_Mutation_p.C122*|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCAGCATTTGTTTCCTGACGT	0.502																																																	0													127	115	119					X																	78216383		2203	4300	6503	SO:0001587	stop_gained	0			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.366T>A	X.37:g.78216383T>A	ENSP00000171757:p.Cys122*		D3DTE5|Q4VBN7|Q86V16	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.C122*	ENST00000171757.2	37	c.366	CCDS14442.1	X	.	.	.	.	.	.	.	.	.	.	T	8.490	0.861804	0.17178	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	.	.	.	4.74	-3.48	0.04739	.	0.439106	0.22876	N	0.054574	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	11.8315	0.52299	0.0:0.4842:0.0:0.5158	.	.	.	.	X	122	.	ENSP00000171757:C122X	C	+	3	2	P2RY10	78103039	0.000000	0.05858	0.359000	0.25824	0.160000	0.22226	-0.761000	0.04751	-0.917000	0.03813	-1.526000	0.00926	TGT	P2RY10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000078589		0.502	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY10	HGNC	protein_coding	OTTHUMT00000057323.1	-	0	20	0	T			78216383	1	tier1	-	no_errors	ENST00000171757	ensembl	human	known	74_37	nonsense	17.39	19	4	SNP	0.148	A	A	78216383	T	A	78216383	4	1	181	1	0	0	0	0	0	1	0	0	11386	1731	60	5	368	5	P2RY10	23	78216383	Nonsense_Mutation	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	1103411	78216383	77054177	274	45174											
GRIA3	2892	genome.wustl.edu	37	chrX	122318457	122318457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttagtcctggggcttttgGgtcattctcacggaggattc	5	16	12	8	1	2	0	2	0	1	0	5	2	3	2	1	5	0	1	1	5	1	6			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:122318457G>A	ENST00000371251.1	+	1	122	c.70G>A	c.(70-72)Ggt>Agt	p.G24S	GRIA3_ENST00000542149.1_Missense_Mutation_p.G24S|GRIA3_ENST00000371266.1_Missense_Mutation_p.G24S|GRIA3_ENST00000541091.1_5'Flank|GRIA3_ENST00000371264.3_Missense_Mutation_p.G24S|GRIA3_ENST00000264357.5_Missense_Mutation_p.G24S|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.G24S			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	24					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGGGCTTTTGGGTCATTCTCA	0.582																																																	0													105	105	105					X																	122318457		2203	4300	6503	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.70G>A	X.37:g.122318457G>A	ENSP00000360297:p.Gly24Ser		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G24S	ENST00000371251.1	37	c.70	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966117	0.74131	.	.	ENSG00000125675	ENST00000371266;ENST00000264357;ENST00000371264;ENST00000542149;ENST00000335161;ENST00000371256;ENST00000371251	T;T;T;T	0.13657	2.74;2.57;2.74;2.74	5.83	5.83	0.93111	.	0.243753	0.39341	N	0.001381	T	0.32315	0.0825	L	0.52905	1.665	0.80722	D	1	D;B;B	0.76494	0.999;0.043;0.073	D;B;B	0.65140	0.932;0.027;0.06	T	0.00531	-1.1686	10	0.44086	T	0.13	.	17.4774	0.87662	0.0:0.0:1.0:0.0	.	24;24;24	Q4TT43;P42263;P42263-2	.;GRIA3_HUMAN;.	S	24	ENSP00000264357:G24S;ENSP00000446146:G24S;ENSP00000360302:G24S;ENSP00000360297:G24S	ENSP00000264357:G24S	G	+	1	0	GRIA3	122146138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.648000	0.83479	2.453000	0.82957	0.600000	0.82982	GGT	GRIA3	-	NULL	ENSG00000125675		0.582	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	-	0	226	0	G	NM_000828		122318457	1	tier1	-	no_errors	ENST00000264357	ensembl	human	known	74_37	missense	35.34	161	88	SNP	1.000	A	A	122318457	G	A	122318457	3	1	181	1	0	0	0	0	1	0	0	0	6796	1232	43	3	72	3	GRIA3	23	122318457	Missense_Mutation	SNP	G	TCGA-Z6-A8JD-01A-11D-A36J-09	44102074	122318457	32952103	275	45175											
OPN1LW	5956	genome.wustl.edu	37	chrX	153420169	153420169	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgcatcatcccactcgcTatcatcatgctctgctacct	7	13	5	16	1	4	0	3	0	1	0	6	0	5	0	2	0	5	5	2	0	2	2			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:153420169T>G	ENST00000369951.4	+	4	759	c.699T>G	c.(697-699)gcT>gcG	p.A233A	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	233					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|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)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCACTCGCTATCATCATGC	0.607																																																	0													317	227	257					X																	153420169		2187	4249	6436	SO:0001819	synonymous_variant	0			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.699T>G	X.37:g.153420169T>G				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin	p.A233	ENST00000369951.4	37	c.699	CCDS14742.1	X																																																																																			OPN1LW	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000102076		0.607	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1LW	HGNC	protein_coding	OTTHUMT00000082839.2	-	0	60	0	T	NM_020061		153420169	1	tier1	-	no_errors	ENST00000369951	ensembl	human	known	74_37	silent	37.18	49	29	SNP	0.991	G	G	153420169	T	G	153420169	2	3	181	1	0	0	0	0	0	0	0	1	10916	1509	53	4		4	OPN1LW	23	153420169	Silent	SNP	T	TCGA-Z6-A8JD-01A-11D-A36J-09	31101712	153420169	1850391	276	45176											
CAMTA1	23261	genome.wustl.edu	37	chr1	7724186	7724186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttcagctttaccaccGtcctcaccaaggagatcaag	11	8	9	13	1	3	1	3	0	0	1	4	3	4	2	4	2	3	2	4	2	3	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:7724186G>A	ENST00000303635.7	+	9	1786	c.1579G>A	c.(1579-1581)Gtc>Atc	p.V527I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V527I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	527					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)		CTTTACCACCGTCCTCACCAA	0.642			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													52	53	53					1																	7724186		2203	4300	6503	SO:0001583	missense	0			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.1579G>A	1.37:g.7724186G>A	ENSP00000306522:p.Val527Ile		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.V527I	ENST00000303635.7	37	c.1579	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	11.07	1.531985	0.27387	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.20332	2.08;2.08	4.86	2.91	0.33838	.	0.268665	0.36519	N	0.002553	T	0.11665	0.0284	N	0.22421	0.69	0.21256	N	0.999743	B	0.09022	0.002	B	0.01281	0.0	T	0.30268	-0.9984	10	0.14656	T	0.56	-18.0752	8.587	0.33664	0.2749:0.0:0.7251:0.0	.	527	Q9Y6Y1	CMTA1_HUMAN	I	527	ENSP00000306522:V527I;ENSP00000402561:V527I	ENSP00000306522:V527I	V	+	1	0	CAMTA1	7646773	0.999000	0.42202	1.000000	0.80357	0.951000	0.60555	2.780000	0.47742	0.989000	0.38761	0.493000	0.49557	GTC	CAMTA1	-	NULL	ENSG00000171735		0.642	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3		0	24	0	G	NM_015215		7724186	1			no_errors	ENST00000303635	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.999	A	A	7724186	G	A	7724186	3	1	182	1	0	0	0	0	1	0	0	0	2620	1145	40	1	1613	1	CAMTA1	1	7724186	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		7724186	241526435	1	45177											
SLC2A7	155184	genome.wustl.edu	37	chr1	9064926	9064926	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctcggtcctcaccaccGaggggacaggacctggaggg	9	5	15	12	2	2	1	1	0	1	1	4	5	3	4	4	6	0	0	4	6	0	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:9064926G>T	ENST00000400906.1	-	11	1204	c.1205C>A	c.(1204-1206)tCg>tAg	p.S402*		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	402					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCTCACCACCGAGGGGACAGG	0.662																																																	0													43	36	38					1																	9064926		2203	4300	6503	SO:0001587	stop_gained	0			AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.1205C>A	1.37:g.9064926G>T	ENSP00000383698:p.Ser402*		A2A333	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.S402*	ENST00000400906.1	37	c.1205	CCDS98.2	1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611133	0.66558	.	.	ENSG00000197241	ENST00000400906	.	.	.	4.45	4.45	0.53987	.	0.331224	0.29473	N	0.012053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.1008	0.25336	0.0907:0.0:0.7379:0.1714	.	.	.	.	X	402	.	ENSP00000383698:S402X	S	-	2	0	SLC2A7	8987513	0.329000	0.24696	0.829000	0.32907	0.443000	0.32047	1.453000	0.35167	2.307000	0.77673	0.561000	0.74099	TCG	SLC2A7	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000197241		0.662	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A7	HGNC	protein_coding	OTTHUMT00000127768.3		0	69	0	G	NM_207420		9064926	-1			no_errors	ENST00000400906	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	0.344	T	T	9064926	G	T	9064926	4	4	182	1	0	0	0	0	0	1	0	0	14595	1059	37	2	341	2	SLC2A7	1	9064926	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1340740	9064926	240185695	2	45178											
C1orf201	90529	genome.wustl.edu	37	chr1	24710455	24710455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgttggacaccggtgactgGtgaataacattgtagaaccc	11	10	11	9	1	0	3	0	2	0	1	0	4	0	4	2	3	2	2	2	3	4	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:24710455G>T	ENST00000374409.1	-	4	482	c.228C>A	c.(226-228)caC>caA	p.H76Q	STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Missense_Mutation_p.H29Q|STPG1_ENST00000440416.1_Missense_Mutation_p.H29Q|STPG1_ENST00000337248.4_Missense_Mutation_p.H76Q	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	76					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCGGTGACTGGTGAATAACAT	0.443																																																	0													185	172	176					1																	24710455		2203	4300	6503	SO:0001583	missense	0			BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.228C>A	1.37:g.24710455G>T	ENSP00000363530:p.His76Gln		Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	NULL	p.H76Q	ENST00000374409.1	37	c.228	CCDS55581.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.97|18.97	3.735066|3.735066	0.69189|0.69189	.|.	.|.	ENSG00000001460|ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986|ENST00000435187	.|.	.|.	.|.	6.03|6.03	2.76|2.76	0.32466|0.32466	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59266|0.59266	0.2181|0.2181	L|L	0.56769|0.56769	1.78|1.78	0.38755|0.38755	D|D	0.95419|0.95419	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.87578|.	0.998;0.997|.	T|T	0.58317|0.58317	-0.7657|-0.7657	9|5	0.38643|.	T|.	0.18|.	-4.9828|-4.9828	8.4297|8.4297	0.32750|0.32750	0.2743:0.0:0.7257:0.0|0.2743:0.0:0.7257:0.0	.|.	76;29|.	Q5TH74;Q5TH74-3|.	CA201_HUMAN;.|.	Q|N	76;29;29;76;76|53	.|.	ENSP00000003583:H29Q|.	H|T	-|-	3|2	2|0	C1orf201|C1orf201	24583042|24583042	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	1.302000|1.302000	0.33459|0.33459	0.896000|0.896000	0.36366|0.36366	0.655000|0.655000	0.94253|0.94253	CAC|ACC	STPG1	-	NULL	ENSG00000001460		0.443	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG1	HGNC	protein_coding	OTTHUMT00000009172.1	-	0	58	0	G	NM_178122		24710455	-1	tier1	-	no_errors	ENST00000337248	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	24710455	G	T	24710455	3	4	182	1	0	0	0	0	1	0	0	0	2034	1252	44	3	800	3	C1orf201	1	24710455	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	15645529	24710455	224540166	3	45179											
PDIK1L	149420	genome.wustl.edu	37	chr1	26448574	26448574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatttctcaaaccaggttgGataccagtgacttggaacct	11	12	9	9	0	1	2	1	2	1	0	2	4	1	4	3	3	3	1	3	3	3	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:26448574G>T	ENST00000374271.4	+	4	819	c.532G>T	c.(532-534)Gat>Tat	p.D178Y	PDIK1L_ENST00000374269.1_Missense_Mutation_p.D178Y	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		AACCAGGTTGGATACCAGTGA	0.458																																																	0													145	141	142					1																	26448574		2203	4300	6503	SO:0001583	missense	0			AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.532G>T	1.37:g.26448574G>T	ENSP00000363389:p.Asp178Tyr		B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D178Y	ENST00000374271.4	37	c.532	CCDS274.1	1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578223	0.45902	.	.	ENSG00000175087	ENST00000444713;ENST00000374271;ENST00000374269	T;T;T	0.66995	0.15;-0.24;-0.24	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101189	0.64402	D	0.000002	T	0.62853	0.2462	L	0.48174	1.505	0.31282	N	0.690488	P	0.42357	0.777	B	0.39840	0.311	T	0.72080	-0.4398	10	0.72032	D	0.01	-20.7167	16.2389	0.82396	0.0:0.1329:0.8671:0.0	.	178	Q8N165	PDK1L_HUMAN	Y	178	ENSP00000406510:D178Y;ENSP00000363389:D178Y;ENSP00000363387:D178Y	ENSP00000363387:D178Y	D	+	1	0	PDIK1L	26321161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.767000	0.62286	2.750000	0.94351	0.655000	0.94253	GAT	PDIK1L	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000175087		0.458	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIK1L	HGNC	protein_coding	OTTHUMT00000019752.1		0	40	0	G	NM_152835		26448574	1			no_errors	ENST00000374269	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	26448574	G	T	26448574	3	4	182	1	0	0	0	0	1	0	0	0	11712	1174	41	3	538	3	PDIK1L	1	26448574	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1738119	26448574	222802047	4	45180											
KPNA6	23633	genome.wustl.edu	37	chr1	32632773	32632773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcaattctctctcaggctGttatagatgcaaatatcttc	10	16	5	10	0	4	1	2	0	4	1	8	1	4	1	0	1	1	3	0	1	5	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:32632773G>T	ENST00000373625.3	+	12	1213	c.1120G>T	c.(1120-1122)Gtt>Ttt	p.V374F	KPNA6_ENST00000537234.1_Missense_Mutation_p.V371F|KPNA6_ENST00000545542.1_Missense_Mutation_p.V379F	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	374	NLS binding site (minor). {ECO:0000250}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTCTCAGGCTGTTATAGATGC	0.438																																																	0													135	131	132					1																	32632773		2203	4300	6503	SO:0001583	missense	0			AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"Importins", "Armadillo repeat containing"	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.1120G>T	1.37:g.32632773G>T	ENSP00000362728:p.Val374Phe		B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.V379F	ENST00000373625.3	37	c.1135	CCDS352.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.303618	0.95601	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.0	5.0	0.66597	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88209	0.6375	M	0.90542	3.125	0.80722	D	1	D;D;D	0.67145	0.977;0.982;0.996	P;P;D	0.63381	0.777;0.857;0.914	D	0.90488	0.4465	10	0.87932	D	0	-15.6105	19.1901	0.93663	0.0:0.0:1.0:0.0	.	379;379;374	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	F	374;304;371;379;281	ENSP00000362728:V374F;ENSP00000444930:V371F;ENSP00000440609:V379F;ENSP00000415677:V281F	ENSP00000362719:V304F	V	+	1	0	KPNA6	32405360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.849000	0.99510	2.706000	0.92434	0.643000	0.83706	GTT	KPNA6	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000025800		0.438	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KPNA6	HGNC	protein_coding	OTTHUMT00000012527.4	-	0	60	0	G	NM_012316		32632773	1	tier1	-	no_errors	ENST00000545542	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	32632773	G	T	32632773	3	4	182	1	0	0	0	0	1	0	0	0	8461	1377	48	3	1166	3	KPNA6	1	32632773	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	6184199	32632773	216617848	5	45181											
HIVEP3	59269	genome.wustl.edu	37	chr1	42047900	42047900	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctcagttactaggatctCaggaacctgaatgttgggct	9	12	10	10	0	2	1	2	1	1	0	4	3	3	3	2	3	2	3	2	3	4	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:42047900C>G	ENST00000372583.1	-	4	3454	c.2569G>C	c.(2569-2571)Gag>Cag	p.E857Q	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E857Q|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E857Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E857Q|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	857	Glu/Pro-rich.|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)				ACTAGGATCTCAGGAACCTGA	0.622																																																	0													72	82	79					1																	42047900		2203	4300	6503	SO:0001583	missense	0			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.2569G>C	1.37:g.42047900C>G	ENSP00000361664:p.Glu857Gln		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E857Q	ENST00000372583.1	37	c.2569	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705382	0.89018	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.95	4.95	0.65309	.	0.000000	0.53938	D	0.000057	T	0.69806	0.3152	M	0.76727	2.345	0.53688	D	0.999977	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.73805	-0.3867	10	0.87932	D	0	-0.1176	17.9567	0.89072	0.0:1.0:0.0:0.0	.	857;857	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	857	ENSP00000361665:E857Q;ENSP00000361664:E857Q;ENSP00000247584:E857Q;ENSP00000410828:E857Q	ENSP00000247584:E857Q	E	-	1	0	HIVEP3	41820487	1.000000	0.71417	0.970000	0.41538	0.984000	0.73092	7.651000	0.83577	2.562000	0.86427	0.462000	0.41574	GAG	HIVEP3	-	NULL	ENSG00000127124		0.622	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0	39	0	C	NM_024503		42047900	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	34.69	32	17	SNP	1.000	G	G	42047900	C	G	42047900	3	3	182	1	0	0	0	0	1	0	0	0	7215	835	29	5	4675	5	HIVEP3	1	42047900	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	9415127	42047900	207202721	6	45182											
EPS15	2060	genome.wustl.edu	37	chr1	51875221	51875221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattaccagttgggcctcctCagcacatttctttctgactt	7	15	6	13	0	3	1	1	1	2	0	4	1	4	1	3	1	2	2	3	1	1	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:51875221C>T	ENST00000371733.3	-	14	1357	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	EPS15_ENST00000371730.2_Missense_Mutation_p.E421K|EPS15_ENST00000396122.4_Missense_Mutation_p.E98K|EPS15_ENST00000493793.1_5'UTR	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	421					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?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGGGCCTCCTCAGCACATTTC	0.468			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											153	131	138					1																	51875221		2203	4300	6503	SO:0001583	missense	0			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.1261G>A	1.37:g.51875221C>T	ENSP00000360798:p.Glu421Lys		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.E421K	ENST00000371733.3	37	c.1261	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928051	0.92389	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	D;D;T	0.85629	-2.01;-2.01;2.19	5.75	4.81	0.61882	.	0.000000	0.32736	N	0.005713	D	0.91129	0.7207	M	0.65975	2.015	0.54753	D	0.999983	D;D;D	0.76494	0.997;0.978;0.999	D;P;D	0.83275	0.98;0.73;0.996	D	0.90218	0.4269	10	0.41790	T	0.15	.	16.8714	0.86041	0.0:0.8722:0.1277:0.0	.	421;421;107	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	K	421;421;98	ENSP00000360795:E421K;ENSP00000360798:E421K;ENSP00000379428:E98K	ENSP00000360795:E421K	E	-	1	0	EPS15	51647809	0.987000	0.35691	1.000000	0.80357	0.994000	0.84299	2.601000	0.46249	2.711000	0.92665	0.563000	0.77884	GAG	EPS15	-	NULL	ENSG00000085832		0.468	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	-	0	51	0	C	NM_001981		51875221	-1	tier1	-	no_errors	ENST00000371733	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	51875221	C	T	51875221	3	4	182	1	0	0	0	0	1	0	0	0	5208	835	29	3	1477	3	EPS15	1	51875221	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	9827321	51875221	197375400	7	45183											
ACOT11	26027	genome.wustl.edu	37	chr1	55070098	55070098	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggtgctgtcctcggagatcaGtcaggtagctgaccccaccc	7	8	12	14	1	2	2	2	1	0	1	4	3	3	2	4	3	2	3	4	3	1	1	rs146094962		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:55070098G>T	ENST00000371316.3	+	12	1314	c.1232G>T	c.(1231-1233)aGt>aTt	p.S411I	ACOT11_ENST00000343744.2_Missense_Mutation_p.S411I|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	411	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				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						TCGGAGATCAGTCAGGTAGCT	0.502																																					Ovarian(148;1440 1861 22015 32453 51933)												0													107	87	94					1																	55070098		2203	4300	6503	SO:0001583	missense	0			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.1232G>T	1.37:g.55070098G>T	ENSP00000360366:p.Ser411Ile		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.S411I	ENST00000371316.3	37	c.1232	CCDS592.1	1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501604	0.26949	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	D;D	0.84589	-1.87;-1.87	5.01	-3.2	0.05156	Lipid-binding START (3);START-like domain (1);	0.337825	0.35320	N	0.003281	T	0.76111	0.3942	N	0.22421	0.69	0.09310	N	1	B;B	0.34103	0.437;0.063	B;B	0.40477	0.33;0.093	T	0.67221	-0.5725	10	0.48119	T	0.1	-16.6474	13.1087	0.59261	0.814:0.0:0.186:0.0	.	411;411	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	I	411	ENSP00000340260:S411I;ENSP00000360366:S411I	ENSP00000340260:S411I	S	+	2	0	ACOT11	54842686	0.515000	0.26210	0.042000	0.18584	0.637000	0.38172	1.199000	0.32235	-1.216000	0.02607	-1.945000	0.00491	AGT	ACOT11	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	ENSG00000162390		0.502	ACOT11-001	KNOWN	basic|CCDS	protein_coding	ACOT11	HGNC	protein_coding	OTTHUMT00000027356.1		0	39	0	G	NM_015547		55070098	1			no_errors	ENST00000371316	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.101	T	T	55070098	G	T	55070098	3	4	182	1	0	0	0	0	1	0	0	0	149	1029	36	3	1278	3	ACOT11	1	55070098	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	3194877	55070098	194180523	8	45184											
FAM151A	338094	genome.wustl.edu	37	chr1	55089016	55089016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacagacacacaggtaatgCcggcaaacacccacttgacc	14	4	7	16	1	0	2	0	1	0	1	0	2	0	2	4	2	2	2	4	2	2	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:55089016C>T	ENST00000302250.2	-	1	213	c.53G>A	c.(52-54)gGc>gAc	p.G18D	ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Missense_Mutation_p.G18D	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	18						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						ACAGGTAATGCCGGCAAACAC	0.597																																																	0													234	181	199					1																	55089016		2203	4300	6503	SO:0001583	missense	0			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.53G>A	1.37:g.55089016C>T	ENSP00000306888:p.Gly18Asp		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	pfam_DUF2181	p.G18D	ENST00000302250.2	37	c.53	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429833	0.43122	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.17213	2.29;2.44	3.53	2.6	0.31112	.	0.749959	0.11828	N	0.525494	T	0.17109	0.0411	L	0.42245	1.32	0.09310	N	1	D	0.54047	0.964	P	0.44811	0.461	T	0.10613	-1.0622	10	0.59425	D	0.04	-6.4856	8.2755	0.31871	0.2364:0.7636:0.0:0.0	.	18	Q8WW52	F151A_HUMAN	D	18	ENSP00000306888:G18D;ENSP00000360353:G18D	ENSP00000294370:G18D	G	-	2	0	FAM151A	54861604	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.922000	0.28734	1.036000	0.39998	-0.182000	0.12963	GGC	FAM151A	-	NULL	ENSG00000162391		0.597	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1		0	50	0	C	NM_176782		55089016	-1			no_errors	ENST00000302250	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.002	T	T	55089016	C	T	55089016	3	4	182	1	0	0	0	0	1	0	0	0	5477	739	26	3	1736	3	FAM151A	1	55089016	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	18918	55089016	194161605	9	45185											
SLC44A3	126969	genome.wustl.edu	37	chr1	95293099	95293099	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattcctgcaacctggaagtCaaaggtacgcagctcaaccg	13	7	9	12	2	2	0	2	0	0	0	3	1	3	1	3	2	5	4	3	2	6	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:95293099C>G	ENST00000271227.6	+	4	417	c.315C>G	c.(313-315)gtC>gtG	p.V105V	SLC44A3_ENST00000527077.1_Silent_p.V69V|SLC44A3_ENST00000529450.1_Silent_p.V105V|SLC44A3_ENST00000467909.1_Silent_p.V57V|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000532427.1_Silent_p.V57V|SLC44A3_ENST00000446120.2_Silent_p.V69V	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	105					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	ACCTGGAAGTCAAAGGTACGC	0.473																																																	0													155	145	148					1																	95293099		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.315C>G	1.37:g.95293099C>G			B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Silent	SNP	pfam_Choline_transptr-like	p.V105	ENST00000271227.6	37	c.315	CCDS44176.1	1																																																																																			SLC44A3	-	NULL	ENSG00000143036		0.473	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A3	HGNC	protein_coding	OTTHUMT00000029544.3	-	0	37	0	C	NM_152369		95293099	1	tier1	-	no_errors	ENST00000271227	ensembl	human	known	74_37	silent	20.00	32	8	SNP	0.107	G	G	95293099	C	G	95293099	2	3	182	1	0	0	0	0	0	0	0	1	14682	813	29	5		5	SLC44A3	1	95293099	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	40204083	95293099	153957522	10	45186											
KCNA3	3738	genome.wustl.edu	37	chr1	111215886	111215886	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagttactccttgcttttcGgagctcctcggctgaagagg	6	12	12	11	3	0	2	0	1	0	1	4	4	2	3	2	3	3	4	2	3	2	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:111215886G>A	ENST00000369769.2	-	1	1769	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	516					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CTTGCTTTTCGGAGCTCCTCG	0.522																																																	0													86	77	80					1																	111215886		2203	4300	6503	SO:0001587	stop_gained	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1546C>T	1.37:g.111215886G>A	ENSP00000358784:p.Arg516*		Q5VWN2	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R516*	ENST00000369769.2	37	c.1546	CCDS828.2	1	.	.	.	.	.	.	.	.	.	.	G	38	7.052051	0.98029	.	.	ENSG00000177272	ENST00000369769	.	.	.	5.91	2.76	0.32466	.	0.203988	0.39341	U	0.001398	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	8.6787	0.34196	0.0:0.1102:0.3799:0.5099	.	.	.	.	X	516	.	ENSP00000358784:R516X	R	-	1	2	KCNA3	111017409	0.997000	0.39634	0.998000	0.56505	0.990000	0.78478	1.353000	0.34045	1.435000	0.47434	0.655000	0.94253	CGA	KCNA3	-	NULL	ENSG00000177272		0.522	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	-	0	47	0	G	NM_002232		111215886	-1	tier1	-	no_errors	ENST00000369769	ensembl	human	known	74_37	nonsense	60.71	11	17	SNP	1.000	A	A	111215886	G	A	111215886	4	1	182	1	0	0	0	0	0	1	0	0	8031	1124	39	1	185	1	KCNA3	1	111215886	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	15922787	111215886	138034735	11	45187											
AMPD1	270	genome.wustl.edu	37	chr1	115219977	115219977	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggcaggtacatactagatCctgggaacctggatcatcca	11	9	11	10	0	1	1	1	0	0	1	3	3	3	3	3	4	3	2	3	4	4	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:115219977C>T	ENST00000520113.2	-	10	1497	c.1482G>A	c.(1480-1482)agG>agA	p.R494R	AMPD1_ENST00000353928.6_Silent_p.R461R|AMPD1_ENST00000369538.3_Silent_p.R490R			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	494					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)	CATACTAGATCCTGGGAACCT	0.512																																																	0													126	111	116					1																	115219977		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1482G>A	1.37:g.115219977C>T			A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Silent	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.R494	ENST00000520113.2	37	c.1482	CCDS876.2	1																																																																																			AMPD1	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000116748		0.512	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	-	0	58	0	C			115219977	-1	tier1	-	no_errors	ENST00000520113	ensembl	human	known	74_37	silent	20.83	57	15	SNP	1.000	T	T	115219977	C	T	115219977	2	4	182	1	0	0	0	0	0	0	0	1	585	854	30	3		3	AMPD1	1	115219977	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	4004091	115219977	134030644	12	45188											
CRNN	49860	genome.wustl.edu	37	chr1	152384689	152384689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgatgatcccattaatGttttgcagtaactgaggcat	10	13	9	9	1	0	2	0	2	0	0	2	3	1	2	2	1	2	4	2	1	2	4	rs370534840		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:152384689G>C	ENST00000271835.3	-	2	83	c.21C>G	c.(19-21)aaC>aaG	p.N7K	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	7					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)			TCCCATTAATGTTTTGCAGTA	0.488																																																	0													111	105	107					1																	152384689		2203	4300	6503	SO:0001583	missense	0			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.21C>G	1.37:g.152384689G>C	ENSP00000271835:p.Asn7Lys		B2RE60|Q8N613	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom	p.N7K	ENST00000271835.3	37	c.21	CCDS1010.1	1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904185	0.33628	.	.	ENSG00000143536	ENST00000271835;ENST00000451038	T	0.09723	2.95	4.78	1.84	0.25277	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.000000	0.53938	D	0.000045	T	0.14270	0.0345	M	0.72894	2.215	0.29962	N	0.819322	D	0.89917	1.0	D	0.83275	0.996	T	0.02683	-1.1124	10	0.62326	D	0.03	.	6.936	0.24466	0.2879:0.0:0.7121:0.0	.	7	Q9UBG3	CRNN_HUMAN	K	7	ENSP00000271835:N7K	ENSP00000271835:N7K	N	-	3	2	CRNN	150651313	1.000000	0.71417	0.607000	0.28956	0.057000	0.15508	0.636000	0.24644	0.227000	0.20999	0.591000	0.81541	AAC	CRNN	-	pfam_S100_Ca-bd_sub	ENSG00000143536		0.488	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	HGNC	protein_coding	OTTHUMT00000034503.1	-	0	56	0	G	NM_016190		152384689	-1	tier1	-	no_errors	ENST00000271835	ensembl	human	known	74_37	missense	28.36	48	19	SNP	0.944	C	C	152384689	G	C	152384689	3	2	182	1	0	0	0	0	1	0	0	0	3899	1368	48	5	1474	5	CRNN	1	152384689	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	37164712	152384689	96865932	13	45189											
C1orf129	80133	genome.wustl.edu	37	chr1	170952649	170952649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttctacccaaggagtttCaacaagacgaaagtaaaata	19	9	6	7	1	2	1	1	0	1	1	2	3	2	2	1	1	2	2	1	1	9	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:170952649C>G	ENST00000367758.3	+	9	802	c.703C>G	c.(703-705)Caa>Gaa	p.Q235E	MROH9_ENST00000367759.4_Missense_Mutation_p.Q235E	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	235																	CAAGGAGTTTCAACAAGACGA	0.363																																																	0													81	74	77					1																	170952649		1810	4079	5889	SO:0001583	missense	0			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.703C>G	1.37:g.170952649C>G	ENSP00000356732:p.Gln235Glu		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q235E	ENST00000367758.3	37	c.703	CCDS41436.1	1	.	.	.	.	.	.	.	.	.	.	C	6.287	0.421099	0.11928	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.28069	4.07;1.63	4.12	0.881	0.19166	.	0.934110	0.08816	N	0.889532	T	0.11110	0.0271	L	0.60455	1.87	0.09310	N	1	B;B	0.30281	0.047;0.275	B;B	0.27715	0.027;0.082	T	0.33548	-0.9864	10	0.52906	T	0.07	0.7036	4.3416	0.11113	0.3869:0.4964:0.0:0.1167	.	235;235	F5GWX6;Q5TGP6	.;CA129_HUMAN	E	235	ENSP00000356733:Q235E;ENSP00000356732:Q235E	ENSP00000356732:Q235E	Q	+	1	0	C1orf129	169219273	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.262000	0.08682	0.070000	0.16634	0.655000	0.94253	CAA	MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.363	MROH9-001	KNOWN	basic|CCDS	protein_coding	MROH9	HGNC	protein_coding	OTTHUMT00000099327.1	-	0	53	0	C	NM_025063		170952649	1	tier1	-	no_errors	ENST00000367759	ensembl	human	known	74_37	missense	21.25	63	17	SNP	0.000	G	G	170952649	C	G	170952649	3	3	182	1	0	0	0	0	1	0	0	0	2003	827	29	5	733	5	C1orf129	1	170952649	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	18567960	170952649	78297972	14	45190											
GLUL	2752	genome.wustl.edu	37	chr1	182354682	182354682	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttcacaaggtccaatctGaaattcccactagaaacgag	14	9	6	12	1	2	2	1	1	1	1	5	3	5	2	3	1	1	0	3	1	5	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:182354682G>C	ENST00000331872.6	-	6	1153	c.613C>G	c.(613-615)Cag>Gag	p.Q205E	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000311223.5_Missense_Mutation_p.Q205E|GLUL_ENST00000417584.2_Missense_Mutation_p.Q205E|GLUL_ENST00000339526.4_Missense_Mutation_p.Q205E	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	205					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	GGTCCAATCTGAAATTCCCAC	0.458																																																	0													83	80	81					1																	182354682		2203	4300	6503	SO:0001583	missense	0			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"glutamine synthetase"	138290	"glutamate-ammonia ligase (glutamine synthase)"	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.613C>G	1.37:g.182354682G>C	ENSP00000356537:p.Gln205Glu		Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.Q205E	ENST00000331872.6	37	c.613	CCDS1344.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.940725|4.940725	0.92526|0.92526	.|.	.|.	ENSG00000135821|ENSG00000135821	ENST00000435013|ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	.|D;D;D;D	.|0.86164	.|-2.08;-2.08;-2.08;-2.08	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96380|0.96380	0.8819|0.8819	H|H	0.98333|0.98333	4.205|4.205	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	D|D	0.98001|0.98001	1.0360|1.0360	6|10	0.02654|0.87932	T|D	1|0	-23.7093|-23.7093	17.8071|17.8071	0.88605|0.88605	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|205	.|P15104	.|GLNA_HUMAN	L|E	204|205	.|ENSP00000356537:Q205E;ENSP00000307900:Q205E;ENSP00000398320:Q205E;ENSP00000344958:Q205E	ENSP00000388535:F204L|ENSP00000307900:Q205E	F|Q	-|-	3|1	2|0	GLUL|GLUL	180621305|180621305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.814000|0.814000	0.46013|0.46013	7.453000|7.453000	0.80700|0.80700	2.542000|2.542000	0.85734|0.85734	0.655000|0.655000	0.94253|0.94253	TTC|CAG	GLUL	-	pfam_Gln_synth_cat_dom	ENSG00000135821		0.458	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	HGNC	protein_coding	OTTHUMT00000091043.1	-	0	34	0	G	NM_002065		182354682	-1	tier1	-	no_errors	ENST00000311223	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	C	C	182354682	G	C	182354682	3	2	182	1	0	0	0	0	1	0	0	0	6504	1299	45	5	516	5	GLUL	1	182354682	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	11402033	182354682	66895939	15	45191											
CFHR2	3080	genome.wustl.edu	37	chr1	196928158	196928158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaaaatctcattcatttcGagcaatgtgtcagaatggga	15	11	8	7	1	3	1	3	0	1	1	5	3	3	2	0	1	2	1	0	1	5	2	rs370528458		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:196928158G>A	ENST00000367415.5	+	5	861	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	CFHR2_ENST00000476712.2_Missense_Mutation_p.R238Q|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.R254Q	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	254	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.R254Q(1)		large_intestine(2)|ovary(1)|skin(3)	6						CATTCATTTCGAGCAATGTGT	0.323																																																	1	Substitution - Missense(1)	lung(1)											50	52	51					1																	196928158		2203	4293	6496	SO:0001583	missense	0			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	ENST00000367415.5:c.761G>A	1.37:g.196928158G>A	ENSP00000356385:p.Arg254Gln		Q14310|Q5T9T1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R254Q	ENST00000367415.5	37	c.761	CCDS30959.1	1	.	.	.	.	.	.	.	.	.	.	.	8.340	0.828483	0.16749	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	D;D	0.84223	-1.82;-1.82	3.52	-1.19	0.09585	Complement control module (2);Sushi/SCR/CCP (2);	0.329287	0.17109	N	0.186673	T	0.73992	0.3658	M	0.62723	1.935	0.09310	N	1	P;B	0.47604	0.898;0.094	B;B	0.40165	0.321;0.025	T	0.64491	-0.6395	10	0.15499	T	0.54	.	1.1776	0.01838	0.2162:0.1697:0.4405:0.1736	.	227;254	P36980-2;P36980	.;FHR2_HUMAN	Q	254	ENSP00000356391:R254Q;ENSP00000356385:R254Q	ENSP00000356385:R254Q	R	+	2	0	CFHR2	195194781	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.331000	0.07914	-0.088000	0.12506	-1.330000	0.01273	CGA	CFHR2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP	ENSG00000080910		0.323	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR2	HGNC	protein_coding	OTTHUMT00000088815.2	-	0	11	0	G	NM_005666		196928158	1	tier1	-	no_errors	ENST00000367415	ensembl	human	known	74_37	missense	33.33	20	10	SNP	0.000	A	A	196928158	G	A	196928158	3	1	182	1	0	0	0	0	1	0	0	0	3292	1058	37	1	779	1	CFHR2	1	196928158	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	14573476	196928158	52322463	16	45192											
PTPRC	5788	genome.wustl.edu	37	chr1	198701611	198701611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttccttaaacagatGattataaccgtgttgaactc	11	17	5	8	1	1	3	0	2	1	1	3	3	2	3	2	0	3	1	2	0	5	7			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:198701611G>T	ENST00000367376.2	+	20	2233	c.2062G>T	c.(2062-2064)Gat>Tat	p.D688Y	PTPRC_ENST00000348564.6_Missense_Mutation_p.D529Y|PTPRC_ENST00000442510.2_Missense_Mutation_p.D690Y|PTPRC_ENST00000352140.3_Missense_Mutation_p.D640Y|PTPRC_ENST00000594404.1_Missense_Mutation_p.D527Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	688	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTAAACAGATGATTATAACCG	0.318																																																	0													82	82	82					1																	198701611		2203	4300	6503	SO:0001583	missense	0			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.2062G>T	1.37:g.198701611G>T	ENSP00000356346:p.Asp688Tyr		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D690Y	ENST00000367376.2	37	c.2068		1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498629	0.85069	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	D	0.89123	-2.47	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.50627	D	0.000109	D	0.96911	0.8991	H	0.99104	4.43	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	0.97771	1.0226	10	0.87932	D	0	.	13.3203	0.60428	0.072:0.0:0.928:0.0	.	624;624;529;640;688	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	Y	690;624;640;640;574;688;622;527	ENSP00000193532:D640Y	ENSP00000306782:D527Y	D	+	1	0	PTPRC	196968234	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.032000	0.88838	2.748000	0.94277	0.655000	0.94253	GAT	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000081237		0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding			0	41	0	G			198701611	1			no_errors	ENST00000442510	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	198701611	G	T	198701611	3	4	182	1	0	0	0	0	1	0	0	0	12842	1290	45	3	2147	3	PTPRC	1	198701611	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1773453	198701611	50549010	17	45193											
PKP1	5317	genome.wustl.edu	37	chr1	201292166	201292166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caactatgactgccccctgcCtgaggaagagaccaacccca	12	5	8	16	0	0	3	0	2	0	1	0	5	0	4	6	1	4	0	6	1	4	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:201292166C>T	ENST00000352845.3	+	10	1592	c.1592C>T	c.(1591-1593)cCt>cTt	p.P531L	PKP1_ENST00000367324.3_Missense_Mutation_p.P510L|PKP1_ENST00000263946.3_Missense_Mutation_p.P531L			Q13835	PKP1_HUMAN	plakophilin 1	531					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						TGCCCCCTGCCTGAGGAAGAG	0.562																																																	0													119	123	121					1																	201292166		2203	4300	6503	SO:0001583	missense	0			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.1592C>T	1.37:g.201292166C>T	ENSP00000295597:p.Pro531Leu		O00645|Q14CA0|Q15152	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.P531L	ENST00000352845.3	37	c.1592	CCDS30966.1	1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853503	0.32791	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	D;D;D	0.84660	-1.88;-1.88;-1.88	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84433	0.5471	L	0.51422	1.61	0.32461	N	0.544156	B;P;P	0.45569	0.069;0.794;0.861	B;B;B	0.43052	0.051;0.406;0.391	D	0.87775	0.2608	10	0.51188	T	0.08	-14.8689	19.2755	0.94030	0.0:1.0:0.0:0.0	.	118;510;531	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	L	510;531;531	ENSP00000356293:P510L;ENSP00000263946:P531L;ENSP00000295597:P531L	ENSP00000263946:P531L	P	+	2	0	PKP1	199558789	0.958000	0.32768	0.326000	0.25389	0.199000	0.23934	3.992000	0.56980	2.618000	0.88619	0.655000	0.94253	CCT	PKP1	-	superfamily_ARM-type_fold	ENSG00000081277		0.562	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	-	0	79	0	C	NM_000299		201292166	1	tier1	-	no_errors	ENST00000263946	ensembl	human	known	74_37	missense	17.11	63	13	SNP	0.265	T	T	201292166	C	T	201292166	3	4	182	1	0	0	0	0	1	0	0	0	12023	681	24	3	1630	3	PKP1	1	201292166	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	2590555	201292166	47958455	18	45194											
RPS6KC1	26750	genome.wustl.edu	37	chr1	213414048	213414048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttatacttgttcacaggtgGcaaactgtggtcatatatca	11	14	9	7	0	3	0	3	0	0	0	3	0	3	0	0	3	2	3	0	3	5	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:213414048G>A	ENST00000366960.3	+	11	1379	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G113D|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G398D|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G198D	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	410	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TTCACAGGTGGCAAACTGTGG	0.313																																																	0													79	91	87					1																	213414048		2203	4300	6503	SO:0001583	missense	0			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1229G>A	1.37:g.213414048G>A	ENSP00000355927:p.Gly410Asp		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom	p.G410D	ENST00000366960.3	37	c.1229	CCDS1513.1	1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397548	0.62177	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	M	0.89904	3.07	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	0.75230	-0.3391	10	0.87932	D	0	-1.6401	20.0585	0.97663	0.0:0.0:1.0:0.0	.	198;410;398	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	D	198;410;398;113	ENSP00000442306:G198D;ENSP00000355927:G410D;ENSP00000355926:G398D;ENSP00000439282:G113D	ENSP00000355926:G398D	G	+	2	0	RPS6KC1	211480671	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	9.040000	0.93783	2.812000	0.96745	0.557000	0.71058	GGC	RPS6KC1	-	superfamily_Kinase-like_dom	ENSG00000136643		0.313	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	-	0	30	0	G	NM_012424		213414048	1	tier1	-	no_errors	ENST00000366960	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A	A	213414048	G	A	213414048	3	1	182	1	0	0	0	0	1	0	0	0	13703	1203	42	3	1271	3	RPS6KC1	1	213414048	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	12121882	213414048	35836573	19	45195											
CDC42BPA	8476	genome.wustl.edu	37	chr1	227333345	227333345	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctattccattttgacCaagtcgatgttctctgctac	7	17	6	11	1	3	1	0	1	3	0	6	2	4	1	2	0	2	2	2	0	3	7			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:227333345C>G	ENST00000366769.3	-	8	2279	c.988G>C	c.(988-990)Ggt>Cgt	p.G330R	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.G330R|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.G330R|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.G330R|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.G330R|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.G330R|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.G330R	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)				CCATTTTGACCAAGTCGATGT	0.388																																																	0													115	110	111					1																	227333345		2203	4300	6503	SO:0001583	missense	0			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.988G>C	1.37:g.227333345C>G	ENSP00000355731:p.Gly330Arg			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.G330R	ENST00000366769.3	37	c.988	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.495123	0.96339	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	M	0.81614	2.55	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	0.82814	-0.0271	10	0.87932	D	0	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	330;330;330;330	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	R	330	ENSP00000355731:G330R;ENSP00000355729:G330R;ENSP00000335341:G330R;ENSP00000355728:G330R;ENSP00000355726:G330R;ENSP00000443275:G330R;ENSP00000355727:G330R	ENSP00000335341:G330R	G	-	1	0	CDC42BPA	225399968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	GGT	CDC42BPA	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000143776		0.388	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	-	0	48	0	C	NM_014826		227333345	-1	tier1	-	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	G	G	227333345	C	G	227333345	3	3	182	1	0	0	0	0	1	0	0	0	3079	594	21	5	4287	5	CDC42BPA	1	227333345	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	13919297	227333345	21917276	20	45196											
GPR137B	7107	genome.wustl.edu	37	chr1	236306222	236306222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcttctccttctacttCaaagacttcgtggcggccaa	7	13	7	14	2	4	1	1	0	3	1	7	1	5	1	3	2	1	0	3	2	3	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:236306222C>A	ENST00000366592.3	+	1	391	c.300C>A	c.(298-300)ttC>ttA	p.F100L	GPR137B_ENST00000366591.4_Missense_Mutation_p.F100L	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	100						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)		p.F100L(2)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCTTCTACTTCAAAGACTTCG	0.572																																																	2	Substitution - Missense(2)	lung(2)											153	150	151					1																	236306222		2203	4300	6503	SO:0001583	missense	0			AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"transmembrane 7 superfamily member 1 (upregulated in kidney)"	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.300C>A	1.37:g.236306222C>A	ENSP00000355551:p.Phe100Leu		Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	NULL	p.F100L	ENST00000366592.3	37	c.300	CCDS1609.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.121669	0.94385	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852	T;T	0.57436	0.44;0.4	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.74899	-0.3507	10	0.54805	T	0.06	-27.7464	18.1047	0.89516	0.0:1.0:0.0:0.0	.	100	O60478	G137B_HUMAN	L	100;100;99	ENSP00000355551:F100L;ENSP00000355550:F100L	ENSP00000355550:F100L	F	+	3	2	GPR137B	234372845	1.000000	0.71417	0.985000	0.45067	0.982000	0.71751	5.841000	0.69409	2.264000	0.75181	0.549000	0.68633	TTC	GPR137B	-	NULL	ENSG00000077585		0.572	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137B	HGNC	protein_coding	OTTHUMT00000092761.1		0	21	0	C	NM_003272		236306222	1			no_errors	ENST00000366592	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	A	A	236306222	C	A	236306222	3	1	182	1	0	0	0	0	1	0	0	0	6672	825	29	3	302	3	GPR137B	1	236306222	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	8972877	236306222	12944399	21	45197											
FMN2	56776	genome.wustl.edu	37	chr1	240421329	240421329	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagatatgaaagacatacaaCatggtaagtgtcaaaatgaa	20	9	8	4	0	1	4	1	2	0	2	1	4	1	4	0	1	2	1	0	1	9	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:240421329C>G	ENST00000319653.9	+	7	4380	c.4150C>G	c.(4150-4152)Cat>Gat	p.H1384D	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1384	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)			AGACATACAACATGGTAAGTG	0.323																																																	0													76	75	75					1																	240421329		2203	4298	6501	SO:0001583	missense	0			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.4150C>G	1.37:g.240421329C>G	ENSP00000318884:p.His1384Asp		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.H1384D	ENST00000319653.9	37	c.4150	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123509	0.37436	.	.	ENSG00000155816	ENST00000319653;ENST00000441342	T;T	0.16457	2.34;2.34	5.42	4.52	0.55395	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.087441	0.48286	D	0.000197	T	0.26955	0.0660	N	0.25286	0.73	0.80722	D	1	B;D;P	0.69078	0.12;0.997;0.823	B;D;P	0.67382	0.098;0.951;0.685	T	0.06023	-1.0850	10	0.72032	D	0.01	.	14.4287	0.67233	0.0:0.9288:0.0:0.0712	.	30;13;1384	F5H2C1;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	D	1384;30	ENSP00000318884:H1384D;ENSP00000388922:H30D	ENSP00000318884:H1384D	H	+	1	0	FMN2	238487952	0.997000	0.39634	1.000000	0.80357	0.964000	0.63967	2.689000	0.46993	1.435000	0.47434	0.561000	0.74099	CAT	FMN2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000155816		0.323	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	41	0	C	XM_371352		240421329	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	21.31	48	13	SNP	1.000	G	G	240421329	C	G	240421329	3	3	182	1	0	0	0	0	1	0	0	0	5972	478	17	5	4176	5	FMN2	1	240421329	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	4115107	240421329	8829292	22	45198											
CEP170	9859	genome.wustl.edu	37	chr1	243303405	243303405	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcatcaaaaacacgatcaAccaactaatgggacgaaagc	18	7	6	10	2	3	0	3	0	0	0	3	3	3	1	1	1	4	0	1	1	6	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:243303405A>C	ENST00000366542.1	-	16	4115	c.4064T>G	c.(4063-4065)gTt>gGt	p.V1355G	CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000366543.1_Missense_Mutation_p.V1231G|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.V1257G|CEP170_ENST00000490813.1_Missense_Mutation_p.V64G|CEP170_ENST00000481987.1_Missense_Mutation_p.V91G	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1355	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)			AACACGATCAACCAACTAATG	0.368																																																	0													68	64	65					1																	243303405		1853	4094	5947	SO:0001583	missense	0			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.4064T>G	1.37:g.243303405A>C	ENSP00000355500:p.Val1355Gly		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.V1355G	ENST00000366542.1	37	c.4064	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.951697|3.951697	0.73787|0.73787	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000532008;ENST00000490813;ENST00000413359;ENST00000464936;ENST00000492145	.|T;T;T	.|0.62232	.|0.28;0.26;0.04	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.055575	.|0.64402	.|D	.|0.000001	T|T	0.74191|0.74191	0.3684|0.3684	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.992;0.992;0.999	.|D;D;D;D	.|0.87578	.|0.998;0.985;0.985;0.994	T|T	0.73151|0.73151	-0.4073|-0.4073	5|10	.|0.37606	.|T	.|0.19	-17.6798|-17.6798	14.674|14.674	0.68964|0.68964	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1328;1257;1231;1355	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	V|G	1329|1355;1257;1231;91;290;64;147;64;64	.|ENSP00000355500:V1355G;ENSP00000355502:V1257G;ENSP00000355501:V1231G	.|ENSP00000355500:V1355G	L|V	-|-	1|2	2|0	CEP170|CEP170	241370028|241370028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	8.694000|8.694000	0.91293|0.91293	2.122000|2.122000	0.65172|0.65172	0.455000|0.455000	0.32223|0.32223	TTG|GTT	CEP170	-	NULL	ENSG00000143702		0.368	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	-	0	90	0	A	NM_014812		243303405	-1	tier1	-	no_errors	ENST00000366542	ensembl	human	known	74_37	missense	27.61	97	37	SNP	1.000	C	C	243303405	A	C	243303405	3	2	182	1	0	0	0	0	1	0	0	0	3257	43	2	4	710	4	CEP170	1	243303405	Missense_Mutation	SNP	A	TCGA-Z6-A8JE-01A-11D-A37C-09	2882076	243303405	5947216	23	45199											
SDCCAG8	10806	genome.wustl.edu	37	chr1	243652362	243652362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccacagcccagcagctgGtgcagctcctcagcaagcag	10	4	12	15	0	1	0	1	0	0	0	2	0	2	0	3	2	7	6	3	2	1	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:243652362G>T	ENST00000366541.3	+	17	2150	c.2032G>T	c.(2032-2034)Gtg>Ttg	p.V678L	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.V533L|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.V635L|AKT3_ENST00000336199.5_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	678	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CCAGCAGCTGGTGCAGCTCCT	0.587																																																	0													31	33	32					1																	243652362		2203	4300	6503	SO:0001583	missense	0			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.2032G>T	1.37:g.243652362G>T	ENSP00000355499:p.Val678Leu		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	NULL	p.V678L	ENST00000366541.3	37	c.2032	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265151	0.40095	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.44083	0.96;0.96;0.96;0.93	5.63	4.71	0.59529	.	0.564073	0.17325	N	0.178344	T	0.23133	0.0559	N	0.04508	-0.205	0.80722	D	1	B;B	0.13594	0.008;0.008	B;B	0.12156	0.007;0.007	T	0.04386	-1.0955	10	0.27082	T	0.32	-1.7893	13.7772	0.63062	0.0:0.1541:0.8459:0.0	.	635;678	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	L	635;678;533;379	ENSP00000348137:V635L;ENSP00000355499:V678L;ENSP00000341260:V533L;ENSP00000410200:V379L	ENSP00000341260:V533L	V	+	1	0	SDCCAG8	241718985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.157000	0.50716	1.340000	0.45581	0.650000	0.86243	GTG	SDCCAG8	-	NULL	ENSG00000054282		0.587	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1		0	69	0	G	NM_006642		243652362	1			no_errors	ENST00000366541	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	243652362	G	T	243652362	3	4	182	1	0	0	0	0	1	0	0	0	14004	1261	44	3	2098	3	SDCCAG8	1	243652362	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	348957	243652362	5598259	24	45200											
KIF26B	55083	genome.wustl.edu	37	chr1	245849901	245849901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggtcctggacagcggcCgccccaccagcatcatcagc	7	4	13	17	3	2	0	2	0	0	0	3	1	3	1	5	4	3	1	5	4	0	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:245849901C>T	ENST00000407071.2	+	12	4056	c.3616C>T	c.(3616-3618)Cgc>Tgc	p.R1206C	KIF26B_ENST00000366518.4_Missense_Mutation_p.R825C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1206					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)			GGACAGCGGCCGCCCCACCAG	0.657																																																	0													20	26	24					1																	245849901		2149	4244	6393	SO:0001583	missense	0			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.3616C>T	1.37:g.245849901C>T	ENSP00000385545:p.Arg1206Cys		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1206C	ENST00000407071.2	37	c.3616	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516840	0.64634	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.83163	-1.69;-1.68	5.77	5.77	0.91146	.	.	.	.	.	D	0.92224	0.7534	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.92350	0.5889	9	0.66056	D	0.02	.	19.9961	0.97386	0.0:1.0:0.0:0.0	.	825;1206	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	1206;825;822	ENSP00000385545:R1206C;ENSP00000355475:R825C	ENSP00000355475:R825C	R	+	1	0	KIF26B	243916524	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.863000	0.69568	2.744000	0.94065	0.561000	0.74099	CGC	KIF26B	-	NULL	ENSG00000162849		0.657	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0	61	0	C	XM_371354		245849901	1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	T	T	245849901	C	T	245849901	3	4	182	1	0	0	0	0	1	0	0	0	8322	652	23	1	3662	1	KIF26B	1	245849901	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	2197539	245849901	3400720	25	45201											
KIF26B	55083	genome.wustl.edu	37	chr1	245865859	245865862	+	Frame_Shift_Del	DEL	CCCA	CCCA	-																															ccgtgtcaacttctgcaaggCccatctcatgatgatcacct																										TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	CCCA	CCCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:245865859_245865862delCCCA	ENST00000407071.2	+	15	6718_6721	c.6278_6281delCCCA	c.(6277-6282)gcccatfs	p.AH2093fs	KIF26B_ENST00000366518.4_Frame_Shift_Del_p.AH1712fs	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2093					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)			TTCTGCAAGGCCCATCTCATGATG	0.588																																																	0																																										SO:0001589	frameshift_variant	0			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.6278_6281delCCCA	1.37:g.245865859_245865862delCCCA	ENSP00000385545:p.Ala2093fs		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A2093fs	ENST00000407071.2	37	c.6278_6281	CCDS44342.1	1																																																																																			KIF26B	-	NULL	ENSG00000162849		0.588	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1		0	54	0	CCCA	XM_371354		245865862	1	tier1		no_errors	ENST00000407071	ensembl	human	known	74_37	frame_shift_del	10.42	43	5	DEL	1.000:0.270:0.995:0.995	-	-	245865862	CCCA	-	245865859	7	5	182	1	0	1	0	1	0	0	0	0	8322	739	26	0	6336	0	KIF26B	1	245865859	Frame_Shift_Del	DEL	CCCA	TCGA-Z6-A8JE-01A-11D-A37C-09	15958	245865859	3384762	26	45202	156	3									
KIF26B	55083	genome.wustl.edu	37	chr1	245865863	245865864	+	Frame_Shift_Ins	INS	-	-	G																															tcaacttctgcaaggcccatINSctcatgatgatcacctgctt																										TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:245865863_245865864insG	ENST00000407071.2	+	15	6722_6723	c.6282_6283insG	c.(6283-6285)ctcfs	p.L2095fs	KIF26B_ENST00000366518.4_Frame_Shift_Ins_p.L1714fs	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2095					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)			GCAAGGCCCATCTCATGATGAT	0.589																																																	0																																										SO:0001589	frameshift_variant	0			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	Exception_encountered	1.37:g.245865863_245865864insG	ENSP00000385545:p.Leu2095fs		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L2094fs	ENST00000407071.2	37	c.6282_6283	CCDS44342.1	1																																																																																			KIF26B	-	NULL	ENSG00000162849		0.589	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1		0	60	0	-	XM_371354		245865864	1	tier1		no_errors	ENST00000407071	ensembl	human	known	74_37	frame_shift_ins	10.42	43	5	INS	0.646:0.999	G	G	245865864	-	G	245865863	7	5	182	1	0	1	1	0	0	0	0	0	8322	1432	50	0	6340	0	KIF26B	1	245865863	Frame_Shift_Ins	INS	-	TCGA-Z6-A8JE-01A-11D-A37C-09	4	245865863	3384758	27	45203	156	3									
KIF26B	55083	genome.wustl.edu	37	chr1	245865864	245865864	+	Missense_Mutation	SNP	C	C	A																															tcaacttctgcaaggcccatCtcatgatgatcacctgcttc																										TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr1:245865864C>A	ENST00000407071.2	+	15	6723	c.6283C>A	c.(6283-6285)Ctc>Atc	p.L2095I	KIF26B_ENST00000366518.4_Missense_Mutation_p.L1714I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2095					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)			CAAGGCCCATCTCATGATGAT	0.592																																																	0													89	92	91					1																	245865864		2044	4186	6230	SO:0001583	missense	0			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.6283C>A	1.37:g.245865864C>A	ENSP00000385545:p.Leu2095Ile		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L2095I	ENST00000407071.2	37	c.6283	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146500	0.57044	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.78003	-1.14;-1.13	5.86	5.86	0.93980	.	.	.	.	.	T	0.71307	0.3324	N	0.24115	0.695	0.47547	D	0.99945	P	0.48503	0.911	B	0.43838	0.433	T	0.71328	-0.4626	9	0.37606	T	0.19	.	20.1837	0.98210	0.0:1.0:0.0:0.0	.	2095	Q2KJY2	KI26B_HUMAN	I	2095;1714;1711	ENSP00000385545:L2095I;ENSP00000355475:L1714I	ENSP00000355475:L1714I	L	+	1	0	KIF26B	243932487	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.778000	0.55371	2.774000	0.95407	0.650000	0.86243	CTC	KIF26B	-	NULL	ENSG00000162849		0.592	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0	60	0	C	XM_371354		245865864	1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.999	A	A	245865864	C	A	245865864	3	1	182	1	0	0	0	0	1	0	0	0	8322	913	32	3	6341	3	KIF26B	1	245865864	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	1	245865864	3384757	28	45204	156	3									
ROCK2	9475	genome.wustl.edu	37	chr2	11332613	11332613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatctcctcctttttgtccaTatgatctttatgacacttaa	10	18	3	10	0	2	2	0	2	2	0	5	2	4	2	3	0	0	0	3	0	4	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:11332613T>C	ENST00000315872.6	-	31	4361	c.3913A>G	c.(3913-3915)Atg>Gtg	p.M1305V	ROCK2_ENST00000401753.1_Missense_Mutation_p.M1062V	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1305	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTTTGTCCATATGATCTTTA	0.403																																																	0													99	93	95					2																	11332613		1868	4091	5959	SO:0001583	missense	0			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3913A>G	2.37:g.11332613T>C	ENSP00000317985:p.Met1305Val		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.M1305V	ENST00000315872.6	37	c.3913	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	T	5.879	0.346346	0.11126	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.27256	1.68;1.68	5.52	3.05	0.35203	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);Pleckstrin homology domain (3);	0.036926	0.85682	D	0.000000	T	0.10723	0.0262	N	0.08118	0	0.41553	D	0.988586	B	0.02656	0.0	B	0.06405	0.002	T	0.16012	-1.0417	10	0.09338	T	0.73	.	8.7562	0.34648	0.1273:0.0:0.1336:0.739	.	1305	O75116	ROCK2_HUMAN	V	1305;1062;663	ENSP00000317985:M1305V;ENSP00000385509:M1062V	ENSP00000317985:M1305V	M	-	1	0	ROCK2	11250064	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.180000	0.42537	0.351000	0.24027	0.482000	0.46254	ATG	ROCK2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000134318		0.403	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	-	0	53	0	T			11332613	-1	tier1	-	no_errors	ENST00000315872	ensembl	human	known	74_37	missense	19.44	58	14	SNP	1.000	C	C	11332613	T	C	11332613	3	2	182	1	0	0	0	0	1	0	0	0	13563	1406	49	4	265	4	ROCK2	2	11332613	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09		11332613	231866760	29	45205											
C2orf61	285051	genome.wustl.edu	37	chr2	47317497	47317497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcacattataatgacctGgaccagggccttcatgctat	10	14	7	10	0	2	1	2	1	0	0	2	2	2	2	3	2	1	1	3	2	3	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:47317497G>T	ENST00000445927.2	-	6	662	c.536C>A	c.(535-537)cCa>cAa	p.P179Q	C2orf61_ENST00000464527.2_Intron|RP11-761B3.1_ENST00000422269.1_3'UTR	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	179										endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ATAATGACCTGGACCAGGGCC	0.358																																																	0													114	105	108					2																	47317497		692	1591	2283	SO:0001583	missense	0			AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.536C>A	2.37:g.47317497G>T	ENSP00000408527:p.Pro179Gln		H7C2Z2	Missense_Mutation	SNP	NULL	p.P179Q	ENST00000445927.2	37	c.536	CCDS54356.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.84|12.84	2.057665|2.057665	0.36277|0.36277	.|.	.|.	ENSG00000239605|ENSG00000239605	ENST00000445927|ENST00000449846	D|.	0.90324|.	-2.65|.	4.31|4.31	4.31|4.31	0.51392|0.51392	.|.	.|.	.|.	.|.	.|.	T|T	0.58047|0.58047	0.2095|0.2095	M|M	0.71206|0.71206	2.165|2.165	0.29485|0.29485	N|N	0.85608|0.85608	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56353|0.56353	-0.7993|-0.7993	7|5	0.87932|.	D|.	0|.	.|.	12.4484|12.4484	0.55664|0.55664	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	Q|K	179|59	ENSP00000408527:P179Q|.	ENSP00000408527:P179Q|.	P|Q	-|-	2|1	0|0	C2orf61|C2orf61	47171001|47171001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.120000|0.120000	0.20174|0.20174	4.703000|4.703000	0.61824|0.61824	2.404000|2.404000	0.81709|0.81709	0.491000|0.491000	0.48974|0.48974	CCA|CAG	C2orf61	-	NULL	ENSG00000239605		0.358	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf61	HGNC	protein_coding		-	0	55	0	G	NM_173649		47317497	-1	tier1	-	no_errors	ENST00000445927	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	47317497	G	T	47317497	3	4	182	1	0	0	0	0	1	0	0	0	2187	1348	47	3	218	3	C2orf61	2	47317497	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	35984884	47317497	195881876	30	45206											
DYSF	8291	genome.wustl.edu	37	chr2	71801357	71801357	+	Silent	SNP	C	C	T	0	0	0	1	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	gcggaggcggagggcgagggCtgggagtacgcctctctttt	5	8	19	9	4	1	0	0	0	1	0	2	4	1	3	1	6	1	2	1	6	1	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:71801357C>T	ENST00000258104.3	+	30	3481	c.3204C>T	c.(3202-3204)ggC>ggT	p.G1068G	DYSF_ENST00000409366.1_Silent_p.G1069G|DYSF_ENST00000409762.1_Silent_p.G1085G|DYSF_ENST00000409651.1_Silent_p.G1100G|DYSF_ENST00000409744.1_Silent_p.G1055G|DYSF_ENST00000410020.3_Silent_p.G1086G|DYSF_ENST00000394120.2_Silent_p.G1069G|DYSF_ENST00000409582.3_Silent_p.G1085G|DYSF_ENST00000413539.2_Silent_p.G1099G|DYSF_ENST00000429174.2_Silent_p.G1068G|DYSF_ENST00000410041.1_Silent_p.G1086G	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1068	Arg-rich.				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						AGGGCGAGGGCTGGGAGTACG	0.667																																																	0													58	69	65					2																	71801357		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3204C>T	2.37:g.71801357C>T			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.G1099	ENST00000258104.3	37	c.3297	CCDS1918.1	2																																																																																			DYSF	-	smart_Peroxin/Ferlin	ENSG00000135636		0.667	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0	74	0	C	NM_003494		71801357	1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	65.91	20	58	SNP	1.000	T	T	71801357	C	T	71801357	2	4	182	1	0	0	0	0	0	0	0	1	4873	784	28	3		3	DYSF	2	71801357	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	24483860	71801357	171398016	31	45207											
LBX2	85474	genome.wustl.edu	37	chr2	74725123	74725123	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggccggcagggccgaggcaGaggccgggatctggagcgcc	6	2	21	12	4	1	1	0	0	1	1	1	4	1	3	4	7	1	2	4	7	0	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:74725123G>C	ENST00000377566.4	-	2	706	c.528C>G	c.(526-528)ctC>ctG	p.L176L	AC005041.17_ENST00000479098.1_RNA|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000460508.3_Silent_p.L172L	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	176					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						GGCCGAGGCAGAGGCCGGGAT	0.667																																																	0													28	32	31					2																	74725123		2202	4299	6501	SO:0001819	synonymous_variant	0			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.528C>G	2.37:g.74725123G>C			Q7Z5Y8	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L176	ENST00000377566.4	37	c.528		2																																																																																			LBX2	-	NULL	ENSG00000179528		0.667	LBX2-002	KNOWN	basic|appris_principal	protein_coding	LBX2	HGNC	protein_coding	OTTHUMT00000328490.1	-	0	114	0	G	NM_001009812		74725123	-1	tier1	-	no_errors	ENST00000377566	ensembl	human	known	74_37	silent	67.16	44	90	SNP	0.000	C	C	74725123	G	C	74725123	2	2	182	1	0	0	0	0	0	0	0	1	8682	929	33	5		5	LBX2	2	74725123	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	2923766	74725123	168474250	32	45208											
DNAH6	1768	genome.wustl.edu	37	chr2	84937415	84937415	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcttttccaaacaggcaaAccgttggataaggaacaagg	14	8	11	8	1	0	0	0	0	0	0	1	2	1	2	2	4	4	3	2	4	5	4	rs61752525	byFrequency	TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:84937415A>C	ENST00000237449.6	+	55	9265	c.9257A>C	c.(9256-9258)aAc>aCc	p.N3086T	DNAH6_ENST00000389394.3_Missense_Mutation_p.N3086T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3086	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(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						AAACAGGCAAACCGTTGGATA	0.363																																																	0													202	176	184					2																	84937415		692	1591	2283	SO:0001583	missense	0			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.9257A>C	2.37:g.84937415A>C	ENSP00000237449:p.Asn3086Thr		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.N3086T	ENST00000237449.6	37	c.9257	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114773	0.77210	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.21031	2.03;2.03	5.11	5.11	0.69529	.	0.000000	0.49916	D	0.000135	T	0.34629	0.0904	M	0.72576	2.205	0.80722	D	1	P	0.47106	0.89	P	0.49252	0.604	T	0.17531	-1.0366	10	0.66056	D	0.02	.	14.1696	0.65500	1.0:0.0:0.0:0.0	rs61752525	3086	Q9C0G6	DYH6_HUMAN	T	3086	ENSP00000374045:N3086T;ENSP00000237449:N3086T	ENSP00000237449:N3086T	N	+	2	0	DNAH6	84790926	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.205000	0.77881	2.054000	0.61138	0.528000	0.53228	AAC	DNAH6	-	superfamily_P-loop_NTPase	ENSG00000115423		0.363	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0	36	0	A	NM_001370		84937415	1	tier1	rs61752525	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	35.09	37	20	SNP	1.000	C	C	84937415	A	C	84937415	3	2	182	1	0	0	0	0	1	0	0	0	4619	43	2	4	9475	4	DNAH6	2	84937415	Missense_Mutation	SNP	A	TCGA-Z6-A8JE-01A-11D-A37C-09	10212292	84937415	158261958	33	45209											
TSGA10	80705	genome.wustl.edu	37	chr2	99634675	99634675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactcactcttctaatgatCgatctaggcctcggtcagga	10	11	9	11	2	5	2	2	1	3	1	7	4	5	3	1	3	0	0	1	3	2	3	rs148460657		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:99634675C>A	ENST00000393483.3	-	20	2904	c.2060G>T	c.(2059-2061)cGa>cTa	p.R687L	TSGA10_ENST00000410001.1_Missense_Mutation_p.R687L|TSGA10_ENST00000539964.1_Missense_Mutation_p.R687L|TSGA10_ENST00000355053.4_Missense_Mutation_p.R687L	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	687	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						TTCTAATGATCGATCTAGGCC	0.378																																																	0								C	LEU/ARG,LEU/ARG	0,4406		0,0,2203	100	94	96		2060,2060	5	1	2	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TSGA10	NM_025244.2,NM_182911.3	102,102	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	687/699,687/699	99634675	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2060G>T	2.37:g.99634675C>A	ENSP00000377123:p.Arg687Leu		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.R687L	ENST00000393483.3	37	c.2060	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399649	0.83120	0.0	1.16E-4	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.51574	0.86;0.86;0.86;0.86;0.7;0.75	5.04	5.04	0.67666	.	0.345645	0.24361	N	0.039184	T	0.49558	0.1564	L	0.29908	0.895	0.80722	D	1	D	0.62365	0.991	P	0.52031	0.688	T	0.52335	-0.8589	10	0.66056	D	0.02	-5.96	17.4589	0.87615	0.0:1.0:0.0:0.0	.	687	Q9BZW7	TSG10_HUMAN	L	687;687;687;687;617;687	ENSP00000377123:R687L;ENSP00000386956:R687L;ENSP00000347161:R687L;ENSP00000444419:R687L;ENSP00000386508:R617L;ENSP00000377122:R687L	ENSP00000347161:R687L	R	-	2	0	TSGA10	99001107	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.958000	0.29227	2.774000	0.95407	0.655000	0.94253	CGA	TSGA10	-	NULL	ENSG00000135951		0.378	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	-	0	39	0	C	NM_182911		99634675	-1	tier1	rs148460657	no_errors	ENST00000355053	ensembl	human	known	74_37	missense	39.33	54	35	SNP	1.000	A	A	99634675	C	A	99634675	3	1	182	1	0	0	0	0	1	0	0	0	16665	884	31	2	44	2	TSGA10	2	99634675	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	14697260	99634675	143564698	34	45210											
EIF5B	9669	genome.wustl.edu	37	chr2	100015804	100015804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgatgcactcaaagactGgttcagagatgaaatgcaga	15	9	10	7	0	2	5	2	2	0	3	2	6	2	5	0	1	2	3	0	1	2	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:100015804G>T	ENST00000289371.6	+	24	3792	c.3590G>T	c.(3589-3591)tGg>tTg	p.W1197L		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1197					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						CTCAAAGACTGGTTCAGAGAT	0.453																																					Colon(162;2388 2567 2705 3444)												0													128	118	121					2																	100015804		1935	4153	6088	SO:0001583	missense	0			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.3590G>T	2.37:g.100015804G>T	ENSP00000289371:p.Trp1197Leu		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.W1197L	ENST00000289371.6	37	c.3590	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116787	0.77323	.	.	ENSG00000158417	ENST00000289371	T	0.40756	1.02	6.08	6.08	0.98989	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	.	.	.	.	T	0.42653	0.1212	L	0.46157	1.445	0.80722	D	1	P	0.45634	0.863	B	0.41236	0.351	T	0.13229	-1.0517	8	.	.	.	-7.9878	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1197	O60841	IF2P_HUMAN	L	1197	ENSP00000289371:W1197L	.	W	+	2	0	EIF5B	99382236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.760000	0.98935	2.894000	0.99253	0.655000	0.94253	TGG	EIF5B	-	superfamily_Transl_B-barrel	ENSG00000158417		0.453	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	-	0	43	0	G	NM_015904		100015804	1	tier1	-	no_errors	ENST00000289371	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	100015804	G	T	100015804	3	4	182	1	0	0	0	0	1	0	0	0	5060	1357	47	3	3684	3	EIF5B	2	100015804	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	381129	100015804	143183569	35	45211											
GCC2	9648	genome.wustl.edu	37	chr2	109067569	109067569	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctaaatcaaggtgtacagGtattgggttgaaaatactca	15	11	10	5	0	2	1	2	1	0	0	2	1	2	1	0	3	3	4	0	3	8	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:109067569G>A	ENST00000309863.6	+	3	862		c.e3+1			NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2						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)	p.?(1)		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						AGGTGTACAGGTATTGGGTTG	0.358																																																	1	Unknown(1)	lung(1)											113	108	109					2																	109067569		2203	4300	6503	SO:0001630	splice_region_variant	0			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.148+1G>A	2.37:g.109067569G>A			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Splice_Site	SNP	-	e3+1	ENST00000309863.6	37	c.148+1	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895011	0.72639	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409821;ENST00000409896	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1033	0.86655	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GCC2	108434001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.678000	0.74508	2.332000	0.79248	0.563000	0.77884	.	GCC2	-	-	ENSG00000135968		0.358	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	-	0	60	0	G	NM_014635	Intron	109067569	1	tier1	-	no_errors	ENST00000309863	ensembl	human	known	74_37	splice_site	46.88	68	60	SNP	1.000	A	A	109067569	G	A	109067569	5	1	182	1	0	0	0	0	0	0	1	0	6311	1275	44	3	159	3	GCC2	2	109067569	Splice_Site	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	9051765	109067569	134131804	36	45212											
POTEF	728378	genome.wustl.edu	37	chr2	130877817	130877817	+	Missense_Mutation	SNP	A	A	G	1	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	tcttgttcctgagtgtcttcAtagcagagtcgtcgtggtct	5	16	11	9	2	4	2	1	1	3	1	7	2	5	2	1	1	1	2	1	1	1	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:130877817A>G	ENST00000409914.2	-	3	671	c.272T>C	c.(271-273)aTg>aCg	p.M91T	POTEF_ENST00000360967.5_Missense_Mutation_p.M91T|POTEF_ENST00000357462.5_Missense_Mutation_p.M91T|POTEF_ENST00000361163.4_Missense_Mutation_p.M91T	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	91					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						GAGTGTCTTCATAGCAGAGTC	0.612																																																	0													94	118	110					2																	130877817		2203	4295	6498	SO:0001583	missense	0			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.272T>C	2.37:g.130877817A>G	ENSP00000386786:p.Met91Thr		A6NC34	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.M91T	ENST00000409914.2	37	c.272	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	3.176	-0.168987	0.06461	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.78364	-1.17;-1.17;1.63;1.69	0.62	0.62	0.17637	.	.	.	.	.	T	0.68979	0.3060	L	0.53249	1.67	0.09310	N	1	B	0.25169	0.119	B	0.11329	0.006	T	0.61773	-0.6994	8	0.87932	D	0	.	.	.	.	.	91	A5A3E0	POTEF_HUMAN	T	91	ENSP00000350052:M91T;ENSP00000386786:M91T;ENSP00000354232:M91T;ENSP00000355012:M91T	ENSP00000350052:M91T	M	-	2	0	POTEF	130594287	0.755000	0.28372	0.036000	0.18154	0.027000	0.11550	1.362000	0.34148	0.500000	0.27991	0.138000	0.15974	ATG	POTEF	-	NULL	ENSG00000196604		0.612	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2		0	194	0	A	NM_001099771		130877817	-1			no_errors	ENST00000357462	ensembl	human	known	74_37	missense	6.43	160	11	SNP	0.066	G	G	130877817	A	G	130877817	3	3	182	1	0	0	0	0	1	0	0	0	12304	217	8	4	3015	4	POTEF	2	130877817	Missense_Mutation	SNP	A	TCGA-Z6-A8JE-01A-11D-A37C-09	21810248	130877817	112321556	37	45213											
POTEE	445582	genome.wustl.edu	37	chr2	131976247	131976247	+	Missense_Mutation	SNP	T	T	C	0	1	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	agaccacgacgactctgctaTgaagacactcaggaacaaga	16	5	9	11	2	2	4	1	1	1	3	2	7	2	5	1	1	2	1	1	1	4	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:131976247T>C	ENST00000356920.5	+	1	366	c.272T>C	c.(271-273)aTg>aCg	p.M91T	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.M91T|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	91					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GACTCTGCTATGAAGACACTC	0.612																																																	0													54	51	52					2																	131976247		2190	4262	6452	SO:0001583	missense	0			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.272T>C	2.37:g.131976247T>C	ENSP00000439189:p.Met91Thr		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.M91T	ENST00000356920.5	37	c.272	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	3.619	-0.078032	0.07184	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.78364	-1.17;1.57	0.619	0.619	0.17630	.	.	.	.	.	T	0.62938	0.2469	L	0.29908	0.895	0.09310	N	1	B	0.25169	0.119	B	0.11329	0.006	T	0.55755	-0.8091	8	0.87932	D	0	.	.	.	.	.	91	Q6S8J3	POTEE_HUMAN	T	91	ENSP00000439189:M91T;ENSP00000443049:M91T	ENSP00000439189:M91T	M	+	2	0	AC131180.1	131692717	0.873000	0.30073	0.032000	0.17829	0.023000	0.10783	1.278000	0.33179	0.499000	0.27970	0.136000	0.15936	ATG	POTEE	-	NULL	ENSG00000188219		0.612	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		-	0	79	0	T	NM_001083538		131976247	1	tier1	-	no_errors	ENST00000356920	ensembl	human	known	74_37	missense	35.06	50	27	SNP	0.053	C	C	131976247	T	C	131976247	3	2	182	1	0	0	0	0	1	0	0	0	12303	1464	51	4	274	4	POTEE	2	131976247	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	1098430	131976247	111223126	38	45214											
LRP1B	53353	genome.wustl.edu	37	chr2	141267497	141267497	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggccagtgttcatacCgcagcctgctgtggaaagct	7	9	12	13	1	1	0	1	0	0	0	1	1	1	1	4	2	4	4	4	2	2	2	rs376234911		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:141267497C>T	ENST00000389484.3	-	52	9369	c.8398G>A	c.(8398-8400)Gct>Act	p.A2800T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2800	LDL-receptor class A 17. {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)		GTGTTCATACCGCAGCCTGCT	0.507										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122	105	111		8398	6.2	1	2		111	0,8600		0,0,4300	no	missense-near-splice	LRP1B	NM_018557.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2800/4600	141267497	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	0			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.8398+1G>A	2.37:g.141267497C>T			Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A2800T	ENST00000389484.3	37	c.8398	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782827	0.70222	2.27E-4	0.0	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.42131	0.98	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	L	0.31476	0.935	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.43669	-0.9377	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2800	Q9NZR2	LRP1B_HUMAN	T	2800;2738	ENSP00000374135:A2800T	.	A	-	1	0	LRP1B	140983967	1.000000	0.71417	0.991000	0.47740	0.945000	0.59286	4.563000	0.60823	2.941000	0.99782	0.655000	0.94253	GCT	LRP1B	-	smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.507	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	18	0	C	NM_018557	Missense_Mutation	141267497	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	75.00	4	12	SNP	1.000	T	T	141267497	C	T	141267497	5	4	182	1	0	0	0	0	0	0	1	0	8990	666	23	1	5561	1	LRP1B	2	141267497	Splice_Site	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	9291250	141267497	101931876	39	45215											
MBD5	55777	genome.wustl.edu	37	chr2	149243356	149243356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	tttgagtaaccatcaactgaCtcatctacagtcgctgttaa	12	13	6	10	1	3	2	2	2	1	0	4	2	3	2	1	0	3	3	1	0	4	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:149243356C>G	ENST00000407073.1	+	11	3888	c.2891C>G	c.(2890-2892)aCt>aGt	p.T964S	MBD5_ENST00000404807.1_Missense_Mutation_p.T1197S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	964					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)		CATCAACTGACTCATCTACAG	0.383																																																	0													67	61	63					2																	149243356		2203	4300	6503	SO:0001583	missense	0			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.2891C>G	2.37:g.149243356C>G	ENSP00000386049:p.Thr964Ser		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom	p.T964S	ENST00000407073.1	37	c.2891	CCDS33302.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.420|6.420	0.445593|0.445593	0.12164|0.12164	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.19669	.|2.13;2.13	5.47|5.47	4.58|4.58	0.56647|0.56647	.|.	.|0.095562	.|0.46442	.|D	.|0.000296	T|T	0.10423|0.10423	0.0255|0.0255	N|N	0.08118|0.08118	0|0	0.22479|0.22479	N|N	0.999065|0.999065	.|B;B	.|0.09022	.|0.002;0.0	.|B;B	.|0.10450	.|0.005;0.001	T|T	0.29027|0.29027	-1.0025|-1.0025	5|10	.|0.18710	.|T	.|0.47	-5.5759|-5.5759	10.7344|10.7344	0.46115|0.46115	0.1295:0.5902:0.2803:0.0|0.1295:0.5902:0.2803:0.0	.|.	.|1197;964	.|E9PHH0;Q9P267	.|.;MBD5_HUMAN	V|S	937|964;1197	.|ENSP00000386049:T964S;ENSP00000384672:T1197S	.|ENSP00000384672:T1197S	L|T	+|+	1|2	0|0	MBD5|MBD5	148959826|148959826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.718000|1.718000	0.38001|0.38001	1.278000|1.278000	0.44430|0.44430	0.591000|0.591000	0.81541|0.81541	CTC|ACT	MBD5	-	NULL	ENSG00000204406		0.383	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	-	0	42	0	C			149243356	1	tier1	-	no_errors	ENST00000407073	ensembl	human	known	74_37	missense	58.73	26	37	SNP	1.000	G	G	149243356	C	G	149243356	3	3	182	1	0	0	0	0	1	0	0	0	9385	565	20	5	2913	5	MBD5	2	149243356	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	7975859	149243356	93956017	40	45216											
SCN7A	6332	genome.wustl.edu	37	chr2	167262557	167262557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctatgtactgggtcctatCaggatcaaaccttttccata	10	14	7	10	0	3	0	2	0	1	0	5	1	5	1	3	2	2	1	3	2	5	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:167262557C>A	ENST00000409855.1	-	25	4708	c.4582G>T	c.(4582-4584)Gat>Tat	p.D1528Y		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1528					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TGGGTCCTATCAGGATCAAAC	0.393																																																	0													54	55	54					2																	167262557		1873	4133	6006	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4582G>T	2.37:g.167262557C>A	ENSP00000386796:p.Asp1528Tyr			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.D1528Y	ENST00000409855.1	37	c.4582	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180751	0.57800	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	T	0.15603	2.41	4.69	4.69	0.59074	.	0.310930	0.27072	N	0.021064	T	0.38931	0.1059	M	0.70595	2.14	0.37958	D	0.932876	D	0.71674	0.998	P	0.62740	0.906	T	0.41484	-0.9506	10	0.87932	D	0	.	15.4902	0.75600	0.0:1.0:0.0:0.0	.	1528	Q01118	SCN7A_HUMAN	Y	1528	ENSP00000386796:D1528Y	ENSP00000259060:D1528Y	D	-	1	0	SCN7A	166970803	0.577000	0.26708	0.997000	0.53966	0.995000	0.86356	2.079000	0.41577	2.612000	0.88384	0.650000	0.86243	GAT	SCN7A	-	NULL	ENSG00000136546		0.393	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0	42	0	C			167262557	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	missense	47.06	27	24	SNP	0.997	A	A	167262557	C	A	167262557	3	1	182	1	0	0	0	0	1	0	0	0	13968	826	29	3	470	3	SCN7A	2	167262557	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	18019201	167262557	75936816	41	45217											
OSBPL6	114880	genome.wustl.edu	37	chr2	179238625	179238625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttctgcaggctggtgaGcaaatccatgtcagtctccc	7	12	10	12	0	4	1	1	1	3	0	6	1	5	1	2	2	2	3	2	2	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:179238625G>T	ENST00000190611.4	+	15	1780	c.1404G>T	c.(1402-1404)gaG>gaT	p.E468D	OSBPL6_ENST00000409045.3_Missense_Mutation_p.E437D|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E401D|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E472D|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E432D|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E493D|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E432D	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	468					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGGCTGGTGAGCAAATCCATG	0.443																																																	0													91	79	83					2																	179238625		2203	4300	6503	SO:0001583	missense	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1404G>T	2.37:g.179238625G>T	ENSP00000190611:p.Glu468Asp		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E472D	ENST00000190611.4	37	c.1416	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.982115	0.34942	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.12984	2.75;2.7;2.63;2.75;2.75;2.7;2.74	6.01	5.14	0.70334	.	0.138471	0.49305	D	0.000157	T	0.20536	0.0494	L	0.28115	0.83	0.37986	D	0.933761	B;B;D;B;B;B	0.56035	0.0;0.057;0.974;0.057;0.012;0.099	B;B;D;B;B;B	0.67725	0.003;0.05;0.953;0.05;0.007;0.024	T	0.11792	-1.0573	10	0.27785	T	0.31	-20.0662	9.9613	0.41697	0.1915:0.0:0.8085:0.0	.	437;472;432;493;468;401	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	D	493;432;401;437;468;432;472	ENSP00000376293:E493D;ENSP00000352713:E432D;ENSP00000349591:E401D;ENSP00000387248:E437D;ENSP00000190611:E468D;ENSP00000386885:E432D;ENSP00000318723:E472D	ENSP00000190611:E468D	E	+	3	2	OSBPL6	178946871	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.518000	0.35877	1.557000	0.49525	0.651000	0.88453	GAG	OSBPL6	-	NULL	ENSG00000079156		0.443	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2		0	25	0	G	NM_032523		179238625	1			no_errors	ENST00000315022	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	179238625	G	T	179238625	3	4	182	1	0	0	0	0	1	0	0	0	11320	962	34	3	1576	3	OSBPL6	2	179238625	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	11976068	179238625	63960748	42	45218											
TTN	7273	genome.wustl.edu	37	chr2	179398175	179398175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cattttaatgttggtgggggGatgccagacactctgatctc	8	13	12	8	0	2	2	0	1	2	1	3	3	2	3	1	4	1	1	1	4	1	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:179398175G>C	ENST00000591111.1	-	308	98468	c.98244C>G	c.(98242-98244)atC>atG	p.I32748M	TTN_ENST00000589042.1_Missense_Mutation_p.I34389M|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I31821M|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I25324M|TTN_ENST00000359218.5_Missense_Mutation_p.I25449M|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I25516M|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32748	Ig-like 145.				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)			TTGGTGGGGGGATGCCAGACA	0.453																																																	0													63	62	62					2																	179398175		1956	4148	6104	SO:0001583	missense	0			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.98244C>G	2.37:g.179398175G>C	ENSP00000465570:p.Ile32748Met		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I31821M	ENST00000591111.1	37	c.95463		2	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935610	0.34189	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.74	0.608	0.17569	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	0.67183	0.2866	L	0.55834	1.745	0.29969	N	0.818756	D;D;D;D	0.54397	0.966;0.966;0.966;0.966	P;P;P;P	0.55161	0.77;0.77;0.77;0.77	T	0.62595	-0.6821	9	0.87932	D	0	.	3.9959	0.09558	0.3667:0.0:0.3827:0.2506	.	25324;25449;25516;32748	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	31821;25324;25516;25449;25321	ENSP00000343764:I31821M;ENSP00000434586:I25324M;ENSP00000340554:I25516M;ENSP00000352154:I25449M	ENSP00000340554:I25516M	I	-	3	3	TTN	179106421	0.445000	0.25657	0.995000	0.50966	0.967000	0.64934	-0.408000	0.07169	0.037000	0.15575	-0.367000	0.07326	ATC	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	41	0	G	NM_133378		179398175	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.982	C	C	179398175	G	C	179398175	3	2	182	1	0	0	0	0	1	0	0	0	16784	1164	41	5	4832	5	TTN	2	179398175	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	159550	179398175	63801198	43	45219											
TTN	7273	genome.wustl.edu	37	chr2	179402298	179402298	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataacatgaagccgaagtgtGgaacccacagctccataata	16	7	8	10	1	0	1	0	1	0	0	1	3	1	2	3	1	4	1	3	1	6	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:179402298G>T	ENST00000591111.1	-	305	94937	c.94713C>A	c.(94711-94713)tcC>tcA	p.S31571S	TTN_ENST00000589042.1_Silent_p.S33212S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.S30644S|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.S24147S|TTN_ENST00000359218.5_Silent_p.S24272S|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Silent_p.S24339S|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31571					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)			GCCGAAGTGTGGAACCCACAG	0.438																																																	0													85	84	84					2																	179402298		1888	4108	5996	SO:0001819	synonymous_variant	0			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.94713C>A	2.37:g.179402298G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S30644	ENST00000591111.1	37	c.91932		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	52	0	G	NM_133378		179402298	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.025	T	T	179402298	G	T	179402298	2	4	182	1	0	0	0	0	0	0	0	1	16784	1335	47	3		3	TTN	2	179402298	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	4123	179402298	63797075	44	45220											
TTN	7273	genome.wustl.edu	37	chr2	179592389	179592389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtatactgtccagtcttaGaagcatccactgagtagaga	14	10	9	8	0	1	3	0	1	1	2	3	4	3	3	2	0	2	3	2	0	6	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:179592389G>C	ENST00000591111.1	-	66	19189	c.18965C>G	c.(18964-18966)tCt>tGt	p.S6322C	TTN_ENST00000589042.1_Missense_Mutation_p.S6639C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5395C|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13098	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGTCTTAGAAGCATCCAC	0.408																																																	0													200	204	203					2																	179592389		2030	4198	6228	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18965C>G	2.37:g.179592389G>C	ENSP00000465570:p.Ser6322Cys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S5395C	ENST00000591111.1	37	c.16184		2	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456528	0.26161	.	.	ENSG00000155657	ENST00000342992	T	0.48836	0.8	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75133	0.3808	H	0.94423	3.535	0.80722	D	1	D	0.69078	0.997	D	0.63113	0.911	T	0.81705	-0.0811	9	0.87932	D	0	.	14.6024	0.68450	0.069:0.0:0.931:0.0	.	6322	Q8WZ42	TITIN_HUMAN	C	5395	ENSP00000343764:S5395C	ENSP00000343764:S5395C	S	-	2	0	TTN	179300634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.709000	0.74665	2.840000	0.97914	0.655000	0.94253	TCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	55	0	G	NM_133378		179592389	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	28.89	32	13	SNP	0.999	C	C	179592389	G	C	179592389	3	2	182	1	0	0	0	0	1	0	0	0	16784	942	33	5	84793	5	TTN	2	179592389	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	190091	179592389	63606984	45	45221											
PMS1	5378	genome.wustl.edu	37	chr2	190660632	190660632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgaaaatttgacaacttaCggttttcgtggagaagcctt	11	14	9	7	2	0	3	0	2	0	1	1	4	0	3	1	2	3	1	1	2	5	6	rs149723996	byFrequency	TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:190660632C>T	ENST00000441310.2	+	3	503	c.270C>T	c.(268-270)taC>taT	p.Y90Y	PMS1_ENST00000447232.2_Silent_p.Y90Y|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Silent_p.Y90Y|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409985.1_Silent_p.Y90Y|PMS1_ENST00000374826.4_Silent_p.Y90Y|PMS1_ENST00000432292.3_Intron	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	90					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)			TGACAACTTACGGTTTTCGTG	0.368			"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								C	,,	0,4406		0,0,2203	110	108	109		270,270,270	-6.8	0.9	2	dbSNP_134	109	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	PMS1	NM_000534.4,NM_001128143.1,NM_001128144.1	,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,	90/933,90/894,90/771	190660632	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0				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.270C>T	2.37:g.190660632C>T			D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Silent	SNP	pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N	p.Y90	ENST00000441310.2	37	c.270	CCDS2302.1	2																																																																																			PMS1	-	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N	ENSG00000064933		0.368	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2	-	0	46	0	C			190660632	1	tier1	rs149723996	no_errors	ENST00000441310	ensembl	human	known	74_37	silent	19.72	57	14	SNP	0.386	T	T	190660632	C	T	190660632	2	4	182	1	0	0	0	0	0	0	0	1	12181	547	19	1		1	PMS1	2	190660632	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	11068243	190660632	52538741	46	45222											
ALS2CR11	151254	genome.wustl.edu	37	chr2	202357836	202357836	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatatttgaaaaaaacattGaagatgttttttaaaaagga	19	15	6	1	0	0	3	0	2	0	1	0	4	0	4	0	1	1	1	0	1	9	7			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:202357836G>C	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439140.1_Missense_Mutation_p.F1076L|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AAAAAACATTGAAGATGTTTT	0.274																																																	0													15	13	13					2																	202357836		691	1549	2240	SO:0001627	intron_variant	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+2781C>G	2.37:g.202357836G>C			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_dom	p.F1076L	ENST00000286195.3	37	c.3228	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448716	0.26074	.	.	ENSG00000155754	ENST00000439140	T	0.59638	0.25	5.69	-1.12	0.09808	.	.	.	.	.	T	0.28466	0.0704	N	0.17474	0.49	0.09310	N	0.999998	B	0.20052	0.041	B	0.20184	0.028	T	0.24799	-1.0150	9	0.02654	T	1	.	1.7218	0.02913	0.3713:0.146:0.3413:0.1414	.	1076	E9PGG4	.	L	1076	ENSP00000409937:F1076L	ENSP00000409937:F1076L	F	-	3	2	ALS2CR11	202066081	0.000000	0.05858	0.004000	0.12327	0.472000	0.32918	0.007000	0.13174	-0.427000	0.07350	-0.484000	0.04775	TTC	ALS2CR11	-	NULL	ENSG00000155754		0.274	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	-	0	48	0	G	NM_152525		202357836	-1	tier1	-	no_errors	ENST00000439140	ensembl	human	novel	74_37	missense	59.52	17	25	SNP	0.002	C	C	202357836	G	C	202357836	1	2	182	0	1	0	0	0	0	0	0	0	552	1281	45	5		5	ALS2CR11	2	202357836	Intron	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	11697204	202357836	40841537	47	45223											
FZD5	7855	genome.wustl.edu	37	chr2	208632719	208632719	+	Missense_Mutation	SNP	A	A	G	1	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	ggccactgtggtggacgtggAgatgaagcacagcaccgacc	10	5	15	11	2	0	2	0	1	0	1	0	5	0	3	3	4	2	2	3	4	1	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:208632719A>G	ENST00000295417.3	-	2	1298	c.745T>C	c.(745-747)Tcc>Ccc	p.S249P		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	249					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)		GTGGACGTGGAGATGAAGCAC	0.617																																																	0													83	76	79					2																	208632719		2202	4299	6501	SO:0001583	missense	0			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.745T>C	2.37:g.208632719A>G	ENSP00000354607:p.Ser249Pro		A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S249P	ENST00000295417.3	37	c.745	CCDS33366.1	2	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473465	0.63737	.	.	ENSG00000163251	ENST00000295417	D	0.85629	-2.01	5.05	5.05	0.67936	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	D	0.94108	0.8111	H	0.96518	3.835	0.80722	D	1	D	0.61080	0.989	D	0.71656	0.974	D	0.95154	0.8275	10	0.87932	D	0	.	11.2015	0.48743	0.8464:0.1536:0.0:0.0	.	249	Q13467	FZD5_HUMAN	P	249	ENSP00000354607:S249P	ENSP00000354607:S249P	S	-	1	0	FZD5	208340964	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.383000	0.79741	1.908000	0.55244	0.459000	0.35465	TCC	FZD5	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000163251		0.617	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	HGNC	protein_coding	OTTHUMT00000337060.1		0	42	0	A	NM_003468		208632719	-1			no_errors	ENST00000295417	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	G	G	208632719	A	G	208632719	3	3	182	1	0	0	0	0	1	0	0	0	6157	304	11	4	1016	4	FZD5	2	208632719	Missense_Mutation	SNP	A	TCGA-Z6-A8JE-01A-11D-A37C-09	6274883	208632719	34566654	48	45224											
CPS1	1373	genome.wustl.edu	37	chr2	211441123	211441123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggacagattctcacaatggCcaaccctattattgggaatg	13	10	9	9	0	1	1	1	0	1	1	2	3	1	3	2	3	1	0	2	3	5	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:211441123C>T	ENST00000233072.5	+	3	486	c.290C>T	c.(289-291)gCc>gTc	p.A97V	CPS1_ENST00000430249.2_Missense_Mutation_p.A103V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	97	Anthranilate phosphoribosyltransferase homolog.				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)	p.A97D(1)		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)	CTCACAATGGCCAACCCTATT	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											184	168	174					2																	211441123		2203	4300	6503	SO:0001583	missense	0			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.290C>T	2.37:g.211441123C>T	ENSP00000233072:p.Ala97Val		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.A103V	ENST00000233072.5	37	c.308	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724355	0.48728	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	5.96	2.27	0.28462	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.162024	0.56097	N	0.000024	D	0.89753	0.6806	L	0.52011	1.625	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.14578	0.011;0.011	D	0.83454	0.0050	10	0.72032	D	0.01	-0.1181	10.0664	0.42306	0.0:0.6817:0.0:0.3183	.	107;97	Q59HF8;P31327	.;CPSM_HUMAN	V	97;97;103;103;105;97;97	ENSP00000388496:A97V;ENSP00000430697:A97V;ENSP00000430644:A103V;ENSP00000402608:A103V;ENSP00000233072:A97V	ENSP00000233072:A97V	A	+	2	0	CPS1	211149368	0.781000	0.28676	0.997000	0.53966	0.848000	0.48234	1.328000	0.33758	0.149000	0.19098	-0.808000	0.03180	GCC	CPS1	-	pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu	ENSG00000021826		0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5		0	62	0	C			211441123	1			no_errors	ENST00000430249	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	211441123	C	T	211441123	3	4	182	1	0	0	0	0	1	0	0	0	3830	739	26	3	322	3	CPS1	2	211441123	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	2808404	211441123	31758250	49	45225											
PDCD1	5133	genome.wustl.edu	37	chr2	242795101	242795101	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgagcagggctggggagaaGgtgggggggttccagggcct	7	5	22	7	1	0	1	0	0	0	1	1	3	1	1	2	8	1	3	2	8	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr2:242795101G>A	ENST00000334409.5	-	2	177	c.108C>T	c.(106-108)acC>acT	p.T36T		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	36	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0219)		CTGGGGAGAAGGTGGGGGGGT	0.632																																																	0													21	19	20					2																	242795101		2199	4296	6495	SO:0001819	synonymous_variant	0			AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	8760	protein-coding gene	gene with protein product		600244	"systemic lupus erythematosus susceptibility 2"	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.108C>T	2.37:g.242795101G>A			O00517|Q8IX89	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.T36	ENST00000334409.5	37	c.108	CCDS33428.1	2																																																																																			PDCD1	-	pfscan_Ig-like_dom	ENSG00000188389		0.632	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1	HGNC	protein_coding	OTTHUMT00000322313.1	-	0	81	0	G	NM_005018		242795101	-1	tier1	-	no_errors	ENST00000334409	ensembl	human	known	74_37	silent	68.97	18	40	SNP	0.929	A	A	242795101	G	A	242795101	2	1	182	1	0	0	0	0	0	0	0	1	11654	987	35	3		3	PDCD1	2	242795101	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	31353978	242795101	404272	50	45226											
SRGAP3	9901	genome.wustl.edu	37	chr3	9097938	9097938	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctcattctctatcttgagGgtggccagtctggactgcag	6	13	11	11	0	4	1	1	1	3	0	6	2	5	2	2	3	1	1	2	3	1	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:9097938G>T	ENST00000383836.3	-	8	1531	c.1104C>A	c.(1102-1104)acC>acA	p.T368T	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Silent_p.T368T	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	368	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)		CTATCTTGAGGGTGGCCAGTC	0.567			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													92	90	91					3																	9097938		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1104C>A	3.37:g.9097938G>T			Q8IX13|Q8IZV8	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.T368	ENST00000383836.3	37	c.1104	CCDS2572.1	3																																																																																			SRGAP3	-	NULL	ENSG00000196220		0.567	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3		0	41	0	G			9097938	-1			no_errors	ENST00000383836	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.767	T	T	9097938	G	T	9097938	2	4	182	1	0	0	0	0	0	0	0	1	15194	1219	43	3		3	SRGAP3	3	9097938	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		9097938	188924492	51	45227											
TRANK1	9881	genome.wustl.edu	37	chr3	36873775	36873775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttgatgaggacattcatGaaacggaaaaagagcctctt	14	10	9	8	1	3	4	1	3	2	1	3	6	3	6	1	2	2	0	1	2	3	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:36873775G>A	ENST00000429976.2	-	21	7414	c.7167C>T	c.(7165-7167)ttC>ttT	p.F2389F	TRANK1_ENST00000428977.2_Silent_p.F1839F|TRANK1_ENST00000301807.6_Silent_p.F1839F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2389							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						GGACATTCATGAAACGGAAAA	0.493																																																	0													98	103	101					3																	36873775		1896	4128	6024	SO:0001819	synonymous_variant	0			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.7167C>T	3.37:g.36873775G>A			Q8N8K0	Silent	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.F2389	ENST00000429976.2	37	c.7167	CCDS46789.2	3																																																																																			TRANK1	-	NULL	ENSG00000168016		0.493	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0	76	0	G	NM_014831		36873775	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	silent	24.59	46	15	SNP	1.000	A	A	36873775	G	A	36873775	2	1	182	1	0	0	0	0	0	0	0	1	16502	1281	45	3		3	TRANK1	3	36873775	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	27775837	36873775	161148655	52	45228											
ZNF621	285268	genome.wustl.edu	37	chr3	40573853	40573853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctatgattgtattgtacatGagaaaaaccacattggagaa	16	11	9	5	0	0	3	0	2	0	2	0	5	0	3	1	1	2	3	1	1	6	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:40573853G>C	ENST00000339296.5	+	5	1044	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.E198Q|ZNF621_ENST00000431278.1_Missense_Mutation_p.E87Q	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	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)|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)		TATTGTACATGAGAAAAACCA	0.443																																																	0													93	91	91					3																	40573853		2203	4300	6503	SO:0001583	missense	0			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.592G>C	3.37:g.40573853G>C	ENSP00000340841:p.Glu198Gln		Q14DC7|Q8TE91	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E198Q	ENST00000339296.5	37	c.592	CCDS2693.1	3	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.006728	0.00426	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.17691	2.26;2.26;2.26	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41605	D	0.000853	T	0.06554	0.0168	N	0.02286	-0.61	0.80722	D	1	P;B	0.39094	0.659;0.391	B;B	0.42882	0.401;0.264	T	0.31613	-0.9937	10	0.02654	T	1	.	9.5825	0.39497	0.0:0.2142:0.7858:0.0	.	87;198	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	Q	198;198;87	ENSP00000386051:E198Q;ENSP00000340841:E198Q;ENSP00000413236:E87Q	ENSP00000340841:E198Q	E	+	1	0	ZNF621	40548857	0.000000	0.05858	0.801000	0.32222	0.044000	0.14063	0.663000	0.25053	2.401000	0.81631	0.655000	0.94253	GAG	ZNF621	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172888		0.443	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF621	HGNC	protein_coding	OTTHUMT00000254178.2		0	35	0	G	NM_198484		40573853	1			no_errors	ENST00000339296	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.982	C	C	40573853	G	C	40573853	3	2	182	1	0	0	0	0	1	0	0	0	18093	1291	45	5	606	5	ZNF621	3	40573853	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	3700078	40573853	157448577	53	45229											
KIF15	56992	genome.wustl.edu	37	chr3	44819628	44819628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatctgtattcgcaactgtgGctaaaagcattgtggagtct	11	13	10	7	1	2	0	0	0	2	0	3	1	2	1	0	2	2	4	0	2	5	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:44819628G>T	ENST00000326047.4	+	4	417	c.268G>T	c.(268-270)Gct>Tct	p.A90S		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	90	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CGCAACTGTGGCTAAAAGCAT	0.338																																																	0													296	270	279					3																	44819628		2203	4300	6503	SO:0001583	missense	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.268G>T	3.37:g.44819628G>T	ENSP00000324020:p.Ala90Ser		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A90S	ENST00000326047.4	37	c.268	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602436	0.28534	.	.	ENSG00000163808	ENST00000326047;ENST00000396031	T	0.76060	-0.99	5.41	3.58	0.41010	Kinesin, motor domain (4);	0.000000	0.49916	D	0.000127	T	0.79879	0.4522	L	0.47190	1.495	0.80722	D	1	D	0.64830	0.994	D	0.72075	0.976	T	0.78455	-0.2197	10	0.56958	D	0.05	.	10.2207	0.43194	0.0709:0.0:0.7931:0.136	.	90	Q9NS87	KIF15_HUMAN	S	90;89	ENSP00000324020:A90S	ENSP00000324020:A90S	A	+	1	0	KIF15	44794632	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.009000	0.88606	0.626000	0.30322	0.462000	0.41574	GCT	KIF15	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000163808		0.338	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	-	0	72	0	G			44819628	1	tier1	-	no_errors	ENST00000326047	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	44819628	G	T	44819628	3	4	182	1	0	0	0	0	1	0	0	0	8304	1203	42	3	282	3	KIF15	3	44819628	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	4245775	44819628	153202802	54	45230											
TRAIP	10293	genome.wustl.edu	37	chr3	49866540	49866540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcagactcactgttctcacGaccacaggaaggtgtccagc	10	8	10	13	1	3	1	3	0	1	1	5	3	4	2	2	2	1	1	2	2	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:49866540G>A	ENST00000331456.2	-	15	1519	c.1406C>T	c.(1405-1407)tCg>tTg	p.S469L		NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	469	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTTCTCACGACCACAGGAA	0.557																																																	0													231	176	195					3																	49866540		2203	4300	6503	SO:0001583	missense	0			BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1406C>T	3.37:g.49866540G>A	ENSP00000328203:p.Ser469Leu		B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.S469L	ENST00000331456.2	37	c.1406	CCDS2806.1	3	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665060	0.47677	.	.	ENSG00000183763	ENST00000331456	.	.	.	4.31	0.629	0.17687	.	1.830430	0.02943	N	0.140739	T	0.35098	0.0920	N	0.14661	0.345	0.53688	D	0.99997	B;B	0.25235	0.121;0.071	B;B	0.06405	0.002;0.002	T	0.21861	-1.0233	9	0.87932	D	0	-17.6902	5.1303	0.14907	0.0:0.1004:0.3895:0.5101	.	469;469	A8K807;Q9BWF2	.;TRAIP_HUMAN	L	469	.	ENSP00000328203:S469L	S	-	2	0	TRAIP	49841544	0.329000	0.24696	0.807000	0.32361	0.094000	0.18550	0.614000	0.24314	0.106000	0.17784	-0.271000	0.10264	TCG	TRAIP	-	NULL	ENSG00000183763		0.557	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAIP	HGNC	protein_coding	OTTHUMT00000350518.1	-	0	40	0	G	NM_005879		49866540	-1	tier1	-	no_errors	ENST00000331456	ensembl	human	known	74_37	missense	55.56	8	10	SNP	0.896	A	A	49866540	G	A	49866540	3	1	182	1	0	0	0	0	1	0	0	0	16496	1059	37	1	7	1	TRAIP	3	49866540	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	5046912	49866540	148155890	55	45231											
FLNB	2317	genome.wustl.edu	37	chr3	58089741	58089741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggatggggtctacgcattCgagtattaccccagcacccc	8	9	10	14	2	1	0	0	0	1	0	2	2	1	1	4	3	3	3	4	3	3	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:58089741C>G	ENST00000295956.4	+	10	1704	c.1539C>G	c.(1537-1539)ttC>ttG	p.F513L	FLNB_ENST00000348383.5_Missense_Mutation_p.F513L|FLNB_ENST00000358537.3_Missense_Mutation_p.F513L|FLNB_ENST00000357272.4_Missense_Mutation_p.F513L|FLNB_ENST00000490882.1_Missense_Mutation_p.F513L|FLNB_ENST00000493452.1_Missense_Mutation_p.F344L|FLNB_ENST00000419752.2_Missense_Mutation_p.F344L|FLNB_ENST00000429972.2_Missense_Mutation_p.F513L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	513					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)		TCTACGCATTCGAGTATTACC	0.547																																																	0													81	81	81					3																	58089741		2203	4300	6503	SO:0001583	missense	0			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.1539C>G	3.37:g.58089741C>G	ENSP00000295956:p.Phe513Leu		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.F513L	ENST00000295956.4	37	c.1539	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884734	0.51908	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84	6.17	-4.47	0.03525	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.047891	0.85682	D	0.000000	D	0.86990	0.6066	L	0.38175	1.15	0.50813	D	0.999896	B;B;B;B;B;B	0.28552	0.005;0.215;0.003;0.096;0.003;0.003	B;B;B;B;B;B	0.40602	0.022;0.334;0.011;0.105;0.011;0.011	T	0.75534	-0.3284	10	0.48119	T	0.1	.	15.5948	0.76569	0.0:0.1475:0.0:0.8525	.	513;513;344;344;513;513	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	L	513;513;513;513;513;513;344;344	ENSP00000295956:F513L;ENSP00000420213:F513L;ENSP00000351339:F513L;ENSP00000415599:F513L;ENSP00000232447:F513L;ENSP00000349819:F513L;ENSP00000418510:F344L;ENSP00000414532:F344L	ENSP00000295956:F513L	F	+	3	2	FLNB	58064781	1.000000	0.71417	0.899000	0.35326	0.939000	0.58152	0.625000	0.24477	-0.618000	0.05656	-0.768000	0.03414	TTC	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.547	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	-	0	74	0	C	NM_001457		58089741	1	tier1	-	no_errors	ENST00000295956	ensembl	human	known	74_37	missense	52.94	23	27	SNP	0.974	G	G	58089741	C	G	58089741	3	3	182	1	0	0	0	0	1	0	0	0	5956	883	31	5	1577	5	FLNB	3	58089741	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	8223201	58089741	139932689	56	45232											
OR5K1	26339	genome.wustl.edu	37	chr3	98188847	98188847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtccaagaaactctgcattCagatgaccacaggggccttc	11	9	9	12	0	2	3	1	1	1	2	4	3	3	3	3	2	2	1	3	2	2	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:98188847C>G	ENST00000332650.5	+	1	524	c.427C>G	c.(427-429)Cag>Gag	p.Q143E		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTCTGCATTCAGATGACCAC	0.468																																																	0													137	138	137					3																	98188847		2203	4300	6503	SO:0001583	missense	0			X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.427C>G	3.37:g.98188847C>G	ENSP00000373193:p.Gln143Glu		B9EGY5|Q6IF46	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q143E	ENST00000332650.5	37	c.427	CCDS43115.1	3	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876111	0.51801	.	.	ENSG00000232382	ENST00000332650	T	0.00130	8.69	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.176890	0.27311	N	0.019949	T	0.00271	0.0008	M	0.71206	2.165	0.23381	N	0.997795	P	0.46142	0.873	P	0.48738	0.588	T	0.57207	-0.7851	10	0.27082	T	0.32	-0.8172	11.1255	0.48315	0.0:0.8133:0.1867:0.0	.	143	Q8NHB7	OR5K1_HUMAN	E	143	ENSP00000373193:Q143E	ENSP00000373193:Q143E	Q	+	1	0	OR5K1	99671537	0.000000	0.05858	0.996000	0.52242	0.898000	0.52572	0.583000	0.23849	2.483000	0.83821	0.563000	0.77884	CAG	OR5K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000232382		0.468	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K1	HGNC	protein_coding	OTTHUMT00000359019.1	-	0	101	0	C			98188847	1	tier1	-	no_errors	ENST00000332650	ensembl	human	known	74_37	missense	28.76	109	44	SNP	0.998	G	G	98188847	C	G	98188847	3	3	182	1	0	0	0	0	1	0	0	0	11205	827	29	5	429	5	OR5K1	3	98188847	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	40099106	98188847	99833583	57	45233											
DCBLD2	131566	genome.wustl.edu	37	chr3	98518298	98518298	+	Missense_Mutation	SNP	A	A	G	1	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	tgctctgtggcacctggtacAccaattcgtctggggcaggt	6	11	13	11	1	2	0	0	0	2	0	3	0	2	0	2	5	2	4	2	5	2	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:98518298A>G	ENST00000326840.6	-	16	2608	c.2246T>C	c.(2245-2247)gTg>gCg	p.V749A	DCBLD2_ENST00000326857.9_Missense_Mutation_p.V763A	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	749					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						CACCTGGTACACCAATTCGTC	0.498																																																	0													209	208	208					3																	98518298		1959	4159	6118	SO:0001583	missense	0				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.2246T>C	3.37:g.98518298A>G	ENSP00000321573:p.Val749Ala		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.V763A	ENST00000326840.6	37	c.2288	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	A	9.703	1.154910	0.21371	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;T	0.29917	1.55;1.55	6.02	4.84	0.62591	.	0.273865	0.37053	N	0.002279	T	0.25082	0.0609	L	0.51422	1.61	0.41210	D	0.986431	P;B	0.38395	0.629;0.278	B;B	0.36464	0.225;0.039	T	0.03443	-1.1036	10	0.08837	T	0.75	-8.3547	11.5703	0.50830	0.8505:0.1495:0.0:0.0	.	763;749	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	A	749;763	ENSP00000321573:V749A;ENSP00000321646:V763A	ENSP00000321573:V749A	V	-	2	0	DCBLD2	100000988	0.999000	0.42202	0.992000	0.48379	0.624000	0.37722	5.030000	0.64128	1.060000	0.40578	0.533000	0.62120	GTG	DCBLD2	-	NULL	ENSG00000057019		0.498	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	-	0	47	0	A	NM_080927		98518298	-1	tier1	-	no_errors	ENST00000326857	ensembl	human	known	74_37	missense	24.05	60	19	SNP	0.997	G	G	98518298	A	G	98518298	3	3	182	1	0	0	0	0	1	0	0	0	4290	159	6	4	85	4	DCBLD2	3	98518298	Missense_Mutation	SNP	A	TCGA-Z6-A8JE-01A-11D-A37C-09	329451	98518298	99504132	58	45234											
MED12L	116931	genome.wustl.edu	37	chr3	150840754	150840754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	taagccactttctattttggCaaaaaaggtatcaaatattt	15	15	5	6	0	2	0	1	0	1	0	2	0	2	0	1	2	1	2	1	2	8	8			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:150840754C>T	ENST00000474524.1	+	3	427	c.389C>T	c.(388-390)gCa>gTa	p.A130V	MED12L_ENST00000273432.4_Missense_Mutation_p.A130V|MED12L_ENST00000422248.2_Missense_Mutation_p.A130V|MED12L_ENST00000309237.4_Missense_Mutation_p.A130V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	130						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)			TCTATTTTGGCAAAAAAGGTA	0.313																																																	0													51	53	52					3																	150840754		2203	4300	6503	SO:0001583	missense	0			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.389C>T	3.37:g.150840754C>T	ENSP00000417235:p.Ala130Val		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.A130V	ENST00000474524.1	37	c.389	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839818	0.91117	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.62639	0.33;0.32;0.22;0.01	5.36	5.36	0.76844	Mediator complex, subunit Med12 (1);	0.000000	0.64402	D	0.000001	T	0.78194	0.4245	M	0.65975	2.015	0.40507	D	0.980702	D;D;D;D	0.71674	0.965;0.986;0.982;0.998	P;P;P;D	0.76071	0.78;0.86;0.78;0.987	T	0.77368	-0.2614	9	.	.	.	-14.0011	19.0399	0.92993	0.0:1.0:0.0:0.0	.	130;130;130;130	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	V	130	ENSP00000403308:A130V;ENSP00000310760:A130V;ENSP00000417235:A130V;ENSP00000273432:A130V	.	A	+	2	0	MED12L	152323444	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	7.370000	0.79589	2.688000	0.91661	0.655000	0.94253	GCA	MED12L	-	pfam_Mediator_Med12	ENSG00000144893		0.313	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0	49	0	C	NM_053002		150840754	1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	150840754	C	T	150840754	3	4	182	1	0	0	0	0	1	0	0	0	9467	710	25	3	399	3	MED12L	3	150840754	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	52322456	150840754	47181676	59	45235											
C3orf70	285382	genome.wustl.edu	37	chr3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccccgctccgacgccggcGaggccgccgcactcatttcc	6	5	10	20	7	1	0	1	0	0	0	3	2	3	0	7	2	1	2	7	2	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											16	17	17					3																	184870595		2196	4292	6488	SO:0001583	missense	0				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>T	3.37:g.184870595G>A	ENSP00000334974:p.Ser6Leu		B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.S6L	ENST00000335012.2	37	c.17	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636714	0.14386	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.20577	0.0495	N	0.08118	0	0.24817	N	0.992606	B	0.18013	0.025	B	0.08055	0.003	T	0.16364	-1.0405	9	0.22109	T	0.4	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	L	6	.	ENSP00000334974:S6L	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG	C3orf70	-	NULL	ENSG00000187068		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	-	0	33	0	G	NM_001025266		184870595	-1	tier1	-	no_errors	ENST00000335012	ensembl	human	known	74_37	missense	23.08	29	9	SNP	0.804	A	A	184870595	G	A	184870595	3	1	182	1	0	0	0	0	1	0	0	0	2249	1059	37	1	743	1	C3orf70	3	184870595	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	34029841	184870595	13151835	60	45236											
C3orf59	151963	genome.wustl.edu	37	chr3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgatggctttgcaggcctGataggcctgcatgaggctgc	7	10	15	9	0	0	3	0	3	0	0	0	4	0	3	2	4	3	4	2	4	1	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																																	2	Substitution - Missense(2)	lung(2)											34	35	34					3																	192516720		2203	4300	6503	SO:0001583	missense	0			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>G	3.37:g.192516720G>C	ENSP00000376246:p.Gln311Glu		Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.Q311E	ENST00000392452.2	37	c.931	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453077	0.43531	.	.	ENSG00000180611	ENST00000392452	T	0.07800	3.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.51422	1.61	0.80722	D	1	P	0.46784	0.884	B	0.42959	0.403	T	0.07102	-1.0790	10	0.05351	T	0.99	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	311	Q8IYB1	M21D2_HUMAN	E	311	ENSP00000376246:Q311E	ENSP00000376246:Q311E	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG	MB21D2	-	pfam_Mab-21_dom	ENSG00000180611		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	-	0	30	0	G	NM_178496		192516720	-1	tier1	-	no_errors	ENST00000392452	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	C	C	192516720	G	C	192516720	3	2	182	1	0	0	0	0	1	0	0	0	2244	1299	45	5	548	5	C3orf59	3	192516720	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	7646125	192516720	5505710	61	45237											
ACAP2	23527	genome.wustl.edu	37	chr3	195006581	195006581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcattcattcttgctaaaCgtaacctaaaaataaataaa	18	13	2	8	1	3	0	2	0	1	0	3	0	3	0	1	0	3	2	1	0	10	9			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:195006581C>T	ENST00000326793.6	-	22	2410	c.2180G>A	c.(2179-2181)cGt>cAt	p.R727H		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	727					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						TCTTGCTAAACGTAACCTAAA	0.279																																																	0													108	97	101					3																	195006581		2202	4299	6501	SO:0001583	missense	0				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.2180G>A	3.37:g.195006581C>T	ENSP00000324287:p.Arg727His		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R727H	ENST00000326793.6	37	c.2180	CCDS33924.1	3	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710788	0.89112	.	.	ENSG00000114331	ENST00000326793	T	0.34072	1.38	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.70923	-0.4740	10	0.87932	D	0	.	19.3347	0.94312	0.0:1.0:0.0:0.0	.	727	Q15057	ACAP2_HUMAN	H	727	ENSP00000324287:R727H	ENSP00000324287:R727H	R	-	2	0	ACAP2	196487870	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.433000	0.80362	2.798000	0.96311	0.655000	0.94253	CGT	ACAP2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000114331		0.279	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2	-	0	40	0	C	NM_012287		195006581	-1	tier1	-	no_errors	ENST00000326793	ensembl	human	known	74_37	missense	50.00	20	20	SNP	1.000	T	T	195006581	C	T	195006581	3	4	182	1	0	0	0	0	1	0	0	0	119	536	19	1	164	1	ACAP2	3	195006581	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	2489861	195006581	3015849	62	45238											
APOD	347	genome.wustl.edu	37	chr3	195306288	195306288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttgtccctctgccgcaccGaagaggccagccagtgcgga	7	6	13	15	3	1	1	0	0	1	1	2	3	2	2	5	2	3	2	5	2	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr3:195306288G>A	ENST00000343267.3	-	2	406	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	15			F -> S (in dbSNP:rs5952). {ECO:0000269|PubMed:10391209}.		aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTGCCGCACCGAAGAGGCCAG	0.577																																																	0													42	45	44					3																	195306288		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"Lipocalins", "Apolipoproteins"	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.45C>T	3.37:g.195306288G>A			B2R579|D3DNW6|Q6IBG6	Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac	p.F15	ENST00000343267.3	37	c.45	CCDS33925.1	3																																																																																			APOD	-	pirsf_Lipocalin_ApoD	ENSG00000189058		0.577	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOD	HGNC	protein_coding	OTTHUMT00000342004.1	-	0	61	0	G	NM_001647		195306288	-1	tier1	-	no_errors	ENST00000343267	ensembl	human	known	74_37	silent	32.65	33	16	SNP	0.000	A	A	195306288	G	A	195306288	2	1	182	1	0	0	0	0	0	0	0	1	801	1049	37	1		1	APOD	3	195306288	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	299707	195306288	2716142	63	45239											
CPLX1	10815	genome.wustl.edu	37	chr4	786256	786256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggcgcacggcctcgcgctCcgcctccatcttggcgtact	3	9	11	18	6	1	0	0	0	1	0	4	0	3	0	4	3	1	3	4	3	1	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:786256C>T	ENST00000304062.6	-	3	403	c.172G>A	c.(172-174)Gag>Aag	p.E58K	CPLX1_ENST00000505203.1_Intron	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	58	Interaction with the SNARE complex. {ECO:0000250}.				exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)			kidney(1)|lung(2)	3				Colorectal(103;0.187)		GCCTCGCGCTCCGCCTCCATC	0.736																																																	0													25	28	27					4																	786256		2196	4280	6476	SO:0001583	missense	0			AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.172G>A	4.37:g.786256C>T	ENSP00000305613:p.Glu58Lys		A6NI80|B2R4R5|D3DVN3|F1T0G1	Missense_Mutation	SNP	pfam_Synaphin	p.E58K	ENST00000304062.6	37	c.172	CCDS46995.1	4	.	.	.	.	.	.	.	.	.	.	c	28.6	4.931210	0.92389	.	.	ENSG00000168993	ENST00000304062;ENST00000504062;ENST00000513195	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	T	0.79299	0.4422	M	0.85777	2.775	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.83253	-0.0052	8	0.87932	D	0	.	13.0899	0.59162	0.0:1.0:0.0:0.0	.	58	O14810	CPLX1_HUMAN	K	58;43;141	.	ENSP00000305613:E58K	E	-	1	0	CPLX1	776256	1.000000	0.71417	0.990000	0.47175	0.893000	0.52053	5.263000	0.65507	2.009000	0.58944	0.537000	0.68136	GAG	CPLX1	-	pfam_Synaphin	ENSG00000168993		0.736	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX1	HGNC	protein_coding	OTTHUMT00000358830.1		0	30	0	C			786256	-1			no_errors	ENST00000304062	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	T	T	786256	C	T	786256	3	4	182	1	0	0	0	0	1	0	0	0	3811	864	30	3	240	3	CPLX1	4	786256	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09		786256	190368020	64	45240											
KIAA1530	57654	genome.wustl.edu	37	chr4	1341932	1341932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcacaacttcaggagaacCccgactaaatcctgagaaaa	16	6	7	12	1	2	2	2	1	0	2	3	5	3	2	3	1	2	1	3	1	6	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:1341932C>A	ENST00000389851.4	+	2	500	c.53C>A	c.(52-54)cCc>cAc	p.P18H	UVSSA_ENST00000511216.1_Missense_Mutation_p.P18H|UVSSA_ENST00000507531.1_Missense_Mutation_p.P18H	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	18	VHS-like.				protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										TCAGGAGAACCCCGACTAAAT	0.408																																																	0													121	135	130					4																	1341932		2203	4300	6503	SO:0001583	missense	0			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.53C>A	4.37:g.1341932C>A	ENSP00000374501:p.Pro18His		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	pfam_DUF2043,superfamily_ENTH_VHS	p.P18H	ENST00000389851.4	37	c.53	CCDS33938.1	4	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725309	0.48833	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.23348	1.91;1.91;1.91	4.92	4.92	0.64577	.	0.324290	0.32488	N	0.006028	T	0.43656	0.1257	L	0.55834	1.745	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	T	0.21143	-1.0254	10	0.41790	T	0.15	-19.7798	18.074	0.89422	0.0:1.0:0.0:0.0	.	18	Q2YD98	K1530_HUMAN	H	18	ENSP00000425130:P18H;ENSP00000374501:P18H;ENSP00000421741:P18H	ENSP00000374501:P18H	P	+	2	0	KIAA1530	1331932	1.000000	0.71417	0.783000	0.31826	0.044000	0.14063	4.865000	0.62998	2.431000	0.82371	0.561000	0.74099	CCC	UVSSA	-	superfamily_ENTH_VHS	ENSG00000163945		0.408	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVSSA	HGNC	protein_coding	OTTHUMT00000359480.1	-	0	43	0	C	NM_020894		1341932	1	tier1	-	no_errors	ENST00000389851	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	A	A	1341932	C	A	1341932	3	1	182	1	0	0	0	0	1	0	0	0	8268	623	22	3	55	3	KIAA1530	4	1341932	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	555676	1341932	189812344	65	45241											
SH3TC1	54436	genome.wustl.edu	37	chr4	8226903	8226903	+	Splice_Site	SNP	C	C	G	0	0	0	1	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	ctcttttctcccttgccagaCtcagtagaggaagctgagac	9	11	9	12	0	3	3	1	1	2	3	4	5	3	4	2	1	2	2	2	1	2	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:8226903C>G	ENST00000245105.3	+	11	1312	c.1245C>G	c.(1243-1245)gaC>gaG	p.D415E	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Splice_Site_p.D339E	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	415										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCTTGCCAGACTCAGTAGAGG	0.562																																					NSCLC(145;2298 2623 35616 37297)												0													72	70	71					4																	8226903		2203	4300	6503	SO:0001630	splice_region_variant	0			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1244-1C>G	4.37:g.8226903C>G			Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.D415E	ENST00000245105.3	37	c.1245	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729556	0.30684	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.47528	0.84;0.84	2.33	0.537	0.17144	.	0.336486	0.27720	N	0.018125	T	0.46964	0.1420	L	0.54323	1.7	0.09310	N	1	P	0.48640	0.913	P	0.52758	0.708	T	0.32508	-0.9904	10	0.49607	T	0.09	.	4.3599	0.11197	0.0:0.652:0.0:0.348	.	415	Q8TE82	S3TC1_HUMAN	E	153;415;339;244	ENSP00000245105:D415E;ENSP00000441045:D339E	ENSP00000245105:D415E	D	+	3	2	SH3TC1	8277803	0.255000	0.24002	0.031000	0.17742	0.014000	0.08584	0.192000	0.17096	0.116000	0.18110	0.462000	0.41574	GAC	SH3TC1	-	NULL	ENSG00000125089		0.562	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	-	0	48	0	C	NM_018986	Missense_Mutation	8226903	1	tier1	-	no_errors	ENST00000245105	ensembl	human	known	74_37	missense	31.82	30	14	SNP	0.031	G	G	8226903	C	G	8226903	5	3	182	1	0	0	0	0	0	0	1	0	14306	579	20	5	1283	5	SH3TC1	4	8226903	Splice_Site	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	6884971	8226903	182927373	66	45242											
CLRN2	645104	genome.wustl.edu	37	chr4	17517125	17517125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtgggcttgggggccGccaatcccaattcacgagtg	7	8	15	11	2	1	0	1	0	0	0	2	1	2	0	3	3	0	2	3	3	2	2	rs200144103		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:17517125G>T	ENST00000511148.2	+	1	338	c.236G>T	c.(235-237)cGc>cTc	p.R79L		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	79						integral component of membrane (GO:0016021)		p.R79H(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CTTGGGGGCCGCCAATCCCAA	0.488													G|||	1	0.000199681	0	0	5008	,	,		17741	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	kidney(1)											50	49	49					4																	17517125		1898	4114	6012	SO:0001583	missense	0				CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.236G>T	4.37:g.17517125G>T	ENSP00000424711:p.Arg79Leu			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.R79L	ENST00000511148.2	37	c.236	CCDS47032.1	4	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.41	3.823013	0.71028	.	.	ENSG00000249581	ENST00000511148	T	0.73469	-0.75	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	M	0.69823	2.125	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.86973	0.2099	10	0.66056	D	0.02	-20.3478	18.8264	0.92121	0.0:0.0:1.0:0.0	.	79	A0PK11	CLRN2_HUMAN	L	79	ENSP00000424711:R79L	ENSP00000424711:R79L	R	+	2	0	CLRN2	17126223	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	9.234000	0.95347	2.552000	0.86080	0.561000	0.74099	CGC	CLRN2	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000249581		0.488	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN2	HGNC	protein_coding	OTTHUMT00000359990.2		0	26	0	G	NM_001079827		17517125	1			no_errors	ENST00000511148	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	17517125	G	T	17517125	3	4	182	1	0	0	0	0	1	0	0	0	3565	1087	38	2	238	2	CLRN2	4	17517125	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	9290222	17517125	173637151	67	45243											
STIM2	57620	genome.wustl.edu	37	chr4	27004677	27004677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagagctaagggagggagCtgaatgtgaattgagtagac	14	7	17	3	0	0	5	0	3	0	2	0	9	0	7	0	2	2	3	0	2	4	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:27004677C>T	ENST00000467011.1	+	7	1357	c.932C>T	c.(931-933)gCt>gTt	p.A311V	STIM2_ENST00000237364.5_Missense_Mutation_p.A398V|STIM2_ENST00000382009.3_Missense_Mutation_p.A398V|STIM2_ENST00000465503.1_Missense_Mutation_p.A311V|STIM2_ENST00000412829.2_Missense_Mutation_p.A398V|STIM2_ENST00000467087.1_Missense_Mutation_p.A311V	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	311					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGGGAGGGAGCTGAATGTGAA	0.383																																																	0													115	115	115					4																	27004677		2203	4300	6503	SO:0001583	missense	0			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.932C>T	4.37:g.27004677C>T	ENSP00000419383:p.Ala311Val		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM	p.A398V	ENST00000467011.1	37	c.1193	CCDS54752.1	4	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775716	0.90195	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519	T;T;T;T;T;T;T	0.80393	-1.23;-1.24;-1.25;-1.23;-1.24;-1.22;-1.37	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87822	0.6274	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.997;0.998	D;D;D;D	0.80764	0.994;0.985;0.985;0.994	T	0.83210	-0.0074	10	0.21540	T	0.41	.	20.1467	0.98079	0.0:1.0:0.0:0.0	.	311;398;398;398	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	V	311;398;398;311;398;311;19	ENSP00000419073:A311V;ENSP00000371439:A398V;ENSP00000237364:A398V;ENSP00000419383:A311V;ENSP00000404812:A398V;ENSP00000417569:A311V;ENSP00000420113:A19V	ENSP00000237364:A398V	A	+	2	0	STIM2	26613775	1.000000	0.71417	0.895000	0.35142	0.992000	0.81027	7.445000	0.80570	2.838000	0.97847	0.655000	0.94253	GCT	STIM2	-	NULL	ENSG00000109689		0.383	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	STIM2	HGNC	protein_coding	OTTHUMT00000356861.1	-	0	32	0	C	NM_020860		27004677	1	tier1	-	no_errors	ENST00000382009	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	27004677	C	T	27004677	3	4	182	1	0	0	0	0	1	0	0	0	15331	797	28	3	958	3	STIM2	4	27004677	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	9487552	27004677	164149599	68	45244											
GABRB1	2560	genome.wustl.edu	37	chr4	47163327	47163327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caaaaggctttcttattctgGaatcccactgaacctcaccc	11	11	5	14	0	3	1	1	1	2	0	4	2	4	2	3	2	1	1	3	2	5	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:47163327G>C	ENST00000295454.3	+	4	594	c.302G>C	c.(301-303)gGa>gCa	p.G101A	GABRB1_ENST00000538619.1_Missense_Mutation_p.G31A	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	101					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)	TCTTATTCTGGAATCCCACTG	0.388																																																	0													108	111	110					4																	47163327		2203	4299	6502	SO:0001583	missense	0				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.302G>C	4.37:g.47163327G>C	ENSP00000295454:p.Gly101Ala		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.G101A	ENST00000295454.3	37	c.302	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820697	0.32145	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	T;T;T	0.80123	-1.34;-1.34;-1.34	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000002	T	0.80221	0.4583	L	0.55990	1.75	0.48511	D	0.999666	B;B	0.33135	0.007;0.399	B;B	0.39503	0.019;0.301	T	0.77319	-0.2632	10	0.30078	T	0.28	-8.055	17.4825	0.87677	0.0:0.0:1.0:0.0	.	31;101	F5GXV5;P18505	.;GBRB1_HUMAN	A	68;101;31	ENSP00000426753:G68A;ENSP00000295454:G101A;ENSP00000440330:G31A	ENSP00000295454:G101A	G	+	2	0	GABRB1	46858084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.714000	0.54889	2.611000	0.88343	0.650000	0.86243	GGA	GABRB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAb_rcpt,tigrfam_Neur_channel	ENSG00000163288		0.388	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	-	0	56	0	G			47163327	1	tier1	-	no_errors	ENST00000295454	ensembl	human	known	74_37	missense	19.81	84	21	SNP	1.000	C	C	47163327	G	C	47163327	3	2	182	1	0	0	0	0	1	0	0	0	6190	1174	41	5	316	5	GABRB1	4	47163327	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	20158650	47163327	143990949	69	45245											
GABRB1	2560	genome.wustl.edu	37	chr4	47408746	47408746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatcagcacccacctcaggGagaccctgccaaagatccct	11	5	7	18	0	2	2	2	0	0	2	3	3	3	2	6	1	2	1	6	1	1	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:47408746G>A	ENST00000295454.3	+	8	1175	c.883G>A	c.(883-885)Gag>Aag	p.E295K	GABRB1_ENST00000538619.1_Missense_Mutation_p.E225K	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	295	Allosteric effector binding. {ECO:0000250}.				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)	CCACCTCAGGGAGACCCTGCC	0.443																																																	0													173	160	165					4																	47408746		2203	4300	6503	SO:0001583	missense	0				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.883G>A	4.37:g.47408746G>A	ENSP00000295454:p.Glu295Lys		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.E295K	ENST00000295454.3	37	c.883	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861566	0.91433	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85013	-1.93;-1.93	4.74	4.74	0.60224	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.079408	0.48767	D	0.000165	D	0.88370	0.6418	L	0.39147	1.195	0.80722	D	1	P;D	0.69078	0.749;0.997	P;D	0.79108	0.511;0.992	D	0.85097	0.0955	10	0.19590	T	0.45	-21.119	17.5289	0.87808	0.0:0.0:1.0:0.0	.	225;295	F5GXV5;P18505	.;GBRB1_HUMAN	K	295;225	ENSP00000295454:E295K;ENSP00000440330:E225K	ENSP00000295454:E295K	E	+	1	0	GABRB1	47103503	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.657000	0.98554	2.464000	0.83262	0.467000	0.42956	GAG	GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000163288		0.443	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	-	0	38	0	G			47408746	1	tier1	-	no_errors	ENST00000295454	ensembl	human	known	74_37	missense	18.67	61	14	SNP	1.000	A	A	47408746	G	A	47408746	3	1	182	1	0	0	0	0	1	0	0	0	6190	1175	41	3	913	3	GABRB1	4	47408746	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	245419	47408746	143745530	70	45246											
MAPK10	5602	genome.wustl.edu	37	chr4	86985430	86985430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttcttaccgcctccacttCggctgggtcataccagacgt	7	12	8	14	3	2	1	1	0	1	1	4	1	3	1	4	2	2	1	4	2	2	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:86985430C>T	ENST00000359221.3	-	11	1625	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	MAPK10_ENST00000395161.2_Missense_Mutation_p.E367K|MAPK10_ENST00000449047.2_Missense_Mutation_p.E222K|MAPK10_ENST00000361569.2_Missense_Mutation_p.E367K|MAPK10_ENST00000395157.3_Missense_Mutation_p.E222K|MAPK10_ENST00000395166.1_Missense_Mutation_p.E329K|MAPK10_ENST00000395169.3_Missense_Mutation_p.E329K|MAPK10_ENST00000395160.3_Missense_Mutation_p.E222K			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	367					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GCCTCCACTTCGGCTGGGTCA	0.443																																																	0													155	142	146					4																	86985430		2203	4300	6503	SO:0001583	missense	0			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1099G>A	4.37:g.86985430C>T	ENSP00000352157:p.Glu367Lys		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom	p.E367K	ENST00000359221.3	37	c.1099	CCDS34026.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.379491|5.379491	0.95945|0.95945	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161|ENST00000515400	D;D;D;D;D;D;D;D|.	0.82803|.	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82986|0.82986	0.5156|0.5156	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.67145|.	0.993;0.964;0.979;0.979;0.996|.	B;B;P;P;P|.	0.57425|.	0.426;0.444;0.64;0.64;0.82|.	T|T	0.82697|0.82697	-0.0329|-0.0329	10|5	0.87932|.	D|.	0|.	-21.3618|-21.3618	20.3932|20.3932	0.98965|0.98965	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	253;222;329;367;367|.	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779|.	.;.;.;.;MK10_HUMAN|.	K|Q	329;367;222;367;329;222;222;367|279	ENSP00000378598:E329K;ENSP00000352157:E367K;ENSP00000378586:E222K;ENSP00000355297:E367K;ENSP00000378595:E329K;ENSP00000378589:E222K;ENSP00000414469:E222K;ENSP00000378590:E367K|.	ENSP00000352157:E367K|.	E|R	-|-	1|2	0|0	MAPK10|MAPK10	87204454|87204454	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.757000|0.757000	0.42996|0.42996	7.776000|7.776000	0.85560|0.85560	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAA|CGA	MAPK10	-	superfamily_Kinase-like_dom,prints_MAPK_JNK	ENSG00000109339		0.443	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	HGNC	protein_coding	OTTHUMT00000361363.2	-	0	52	0	C			86985430	-1	tier1	-	no_errors	ENST00000359221	ensembl	human	known	74_37	missense	11.67	53	7	SNP	1.000	T	T	86985430	C	T	86985430	3	4	182	1	0	0	0	0	1	0	0	0	9310	893	31	1	316	1	MAPK10	4	86985430	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	39576684	86985430	104168846	71	45247											
LRIT3	345193	genome.wustl.edu	37	chr4	110791095	110791095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctcccccacatcttcttTttctgcttctactttgtctc	3	20	2	16	0	6	0	0	0	6	0	8	0	6	0	2	0	2	1	2	0	1	7			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:110791095T>C	ENST00000594814.1	+	4	1190	c.1190T>C	c.(1189-1191)tTt>tCt	p.F397S	LRIT3_ENST00000409621.2_Missense_Mutation_p.F214S|LRIT3_ENST00000379920.3_Missense_Mutation_p.F352S|LRIT3_ENST00000327908.3_Missense_Mutation_p.F214S	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	397	Ser-rich.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		acatcttctttttctgcttct	0.473																																																	0													213	169	184					4																	110791095		2203	4300	6503	SO:0001583	missense	0			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1190T>C	4.37:g.110791095T>C	ENSP00000469759:p.Phe397Ser		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F397S	ENST00000594814.1	37	c.1190	CCDS3688.3	4	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.934620	0.00053	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.56611	0.45;0.64;0.45	2.84	1.65	0.23941	.	1.360810	0.05611	N	0.578215	T	0.36358	0.0964	N	0.22421	0.69	0.09310	N	1	B;B	0.16166	0.009;0.016	B;B	0.15052	0.004;0.012	T	0.20974	-1.0259	10	0.20519	T	0.43	.	5.9578	0.19283	0.0:0.2422:0.0:0.7578	.	352;214	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	S	214;352;214	ENSP00000328222:F214S;ENSP00000369252:F352S;ENSP00000386734:F214S	ENSP00000328222:F214S	F	+	2	0	LRIT3	111010544	0.000000	0.05858	0.009000	0.14445	0.023000	0.10783	0.287000	0.18920	0.510000	0.28216	0.533000	0.62120	TTT	LRIT3	-	NULL	ENSG00000183423		0.473	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	HGNC	protein_coding	OTTHUMT00000335270.2		0	80	0	T	NM_198506		110791095	1			no_errors	ENST00000594814	ensembl	human	known	74_37	missense	5.26	107	6	SNP	0.012	C	C	110791095	T	C	110791095	3	2	182	1	0	0	0	0	1	0	0	0	8984	1841	64	4	1065	4	LRIT3	4	110791095	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	23805665	110791095	80363181	72	45248											
ANXA5	308	genome.wustl.edu	37	chr4	122593740	122593740	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatggtgataaacttttcTtcatctgtcccccatttaag	11	15	6	9	0	3	2	1	1	2	1	4	2	4	2	2	1	1	0	2	1	4	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:122593740T>A	ENST00000296511.5	-	9	858	c.573A>T	c.(571-573)gaA>gaT	p.E191D	ANXA5_ENST00000515017.1_Missense_Mutation_p.E91D|ANXA5_ENST00000501272.2_Missense_Mutation_p.E131D	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	191					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TAAACTTTTCTTCATCTGTCC	0.363																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)												0													97	91	93					4																	122593740		2203	4299	6502	SO:0001583	missense	0			U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.573A>T	4.37:g.122593740T>A	ENSP00000296511:p.Glu191Asp		D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV	p.E191D	ENST00000296511.5	37	c.573	CCDS3720.1	4	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366385	0.82463	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272;ENST00000515017	T;T;T	0.04654	3.58;3.58;3.58	5.88	2.24	0.28232	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	M	0.83953	2.67	0.53688	D	0.999976	D;D;D;D	0.89917	0.999;0.998;1.0;0.998	D;D;D;D	0.97110	0.984;0.998;1.0;0.998	T	0.00304	-1.1832	10	0.87932	D	0	.	8.92	0.35605	0.0:0.2127:0.0:0.7873	.	91;131;191;191	D6RBE9;D6RBL5;E7ENQ5;P08758	.;.;.;ANXA5_HUMAN	D	191;191;131;91	ENSP00000296511:E191D;ENSP00000424106:E131D;ENSP00000424199:E91D	ENSP00000296511:E191D	E	-	3	2	ANXA5	122813190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.051000	0.30417	0.496000	0.27904	0.533000	0.62120	GAA	ANXA5	-	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin	ENSG00000164111		0.363	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA5	HGNC	protein_coding	OTTHUMT00000256636.2	-	0	70	0	T	NM_001154		122593740	-1	tier1	-	no_errors	ENST00000296511	ensembl	human	known	74_37	missense	11.40	101	13	SNP	1.000	A	A	122593740	T	A	122593740	3	1	182	1	0	0	0	0	1	0	0	0	721	1606	56	5	409	5	ANXA5	4	122593740	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	11802645	122593740	68560536	73	45249											
BBS12	166379	genome.wustl.edu	37	chr4	123664621	123664621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctggacatgtgcctatcGtttgtattatgctctaaaag	9	16	9	7	1	2	0	0	0	2	0	3	1	2	1	1	1	2	4	1	1	5	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:123664621G>A	ENST00000314218.3	+	2	1767	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	BBS12_ENST00000542236.1_Missense_Mutation_p.R525H	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	525			R -> H (in BBS12). {ECO:0000269|PubMed:21344540}.		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)	p.R525H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TGTGCCTATCGTTTGTATTAT	0.403									Bardet-Biedl syndrome																																								1	Substitution - Missense(1)	lung(1)											142	141	141					4																	123664621		2203	4300	6503	SO:0001583	missense	0	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.1574G>A	4.37:g.123664621G>A	ENSP00000319062:p.Arg525His		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	p.R525H	ENST00000314218.3	37	c.1574	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185315	0.78677	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.78364	-1.17;-1.17	5.71	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	M	0.74258	2.255	0.58432	D	0.999998	D	0.53745	0.962	B	0.43386	0.418	T	0.81525	-0.0893	10	0.56958	D	0.05	-49.8867	14.6692	0.68932	0.0695:0.0:0.9305:0.0	.	525	Q6ZW61	BBS12_HUMAN	H	525	ENSP00000319062:R525H;ENSP00000438273:R525H	ENSP00000319062:R525H	R	+	2	0	BBS12	123884071	1.000000	0.71417	0.148000	0.22405	0.899000	0.52679	8.808000	0.91939	1.419000	0.47118	-0.229000	0.12294	CGT	BBS12	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000181004		0.403	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	-	0	45	0	G	NM_152618		123664621	1	tier1	-	no_errors	ENST00000314218	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.994	A	A	123664621	G	A	123664621	3	1	182	1	0	0	0	0	1	0	0	0	1338	1145	40	1	1576	1	BBS12	4	123664621	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1070881	123664621	67489655	74	45250											
SLC7A11	23657	genome.wustl.edu	37	chr4	139100537	139100537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaaaacaaagctgggatGaacagtggcacctggaacac	17	4	12	8	0	0	1	0	1	0	0	0	4	0	4	1	4	4	2	1	4	6	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:139100537G>A	ENST00000280612.5	-	11	1557	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	426					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	AAGCTGGGATGAACAGTGGCA	0.458																																																	0													92	85	88					4																	139100537		2203	4300	6503	SO:0001819	synonymous_variant	0			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1278C>T	4.37:g.139100537G>A			A8K2U4	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.F426	ENST00000280612.5	37	c.1278	CCDS3742.1	4																																																																																			SLC7A11	-	pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	ENSG00000151012		0.458	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A11	HGNC	protein_coding	OTTHUMT00000257251.2		0	17	0	G			139100537	-1			no_errors	ENST00000280612	ensembl	human	known	74_37	silent	40.00	6	4	SNP	1.000	A	A	139100537	G	A	139100537	2	1	182	1	0	0	0	0	0	0	0	1	14739	1281	45	3		3	SLC7A11	4	139100537	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	15435916	139100537	52053739	75	45251											
OTUD4	54726	genome.wustl.edu	37	chr4	146095823	146095823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaagttaccgcttcaaatTtctctctgttctctcgaaga	10	15	5	11	2	4	1	1	0	3	1	7	2	4	1	1	0	2	3	1	0	5	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:146095823T>C	ENST00000447906.2	-	2	420	c.233A>G	c.(232-234)aAa>aGa	p.K78R	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000296579.6_Missense_Mutation_p.K13R|OTUD4_ENST00000509620.2_Missense_Mutation_p.K13R|OTUD4_ENST00000454497.2_Missense_Mutation_p.K13R			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	78	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				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)					CGCTTCAAATTTCTCTCTGTT	0.383																																																	0													98	96	97					4																	146095823		2203	4300	6503	SO:0001583	missense	0				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.233A>G	4.37:g.146095823T>C	ENSP00000395487:p.Lys78Arg		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.K78R	ENST00000447906.2	37	c.233		4	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406876	0.62399	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973;ENST00000509620;ENST00000296579;ENST00000504501	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.62	4.4	0.53042	Ovarian tumour, otubain (2);	0.112676	0.38326	N	0.001721	T	0.35128	0.0921	L	0.31664	0.95	0.35999	D	0.837269	P;P	0.49961	0.913;0.93	P;P	0.49999	0.596;0.628	T	0.31336	-0.9947	10	0.13470	T	0.59	-14.3931	8.9638	0.35863	0.1652:0.0:0.0:0.8348	.	78;78	G3V0I6;Q01804	.;OTUD4_HUMAN	R	13;78;13;13;13;13	ENSP00000409279:K13R;ENSP00000395487:K78R;ENSP00000425972:K13R;ENSP00000424192:K13R;ENSP00000296579:K13R;ENSP00000423453:K13R	ENSP00000296579:K13R	K	-	2	0	OTUD4	146315273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.756000	0.38390	1.002000	0.39104	0.533000	0.62120	AAA	OTUD4	-	pfam_OTU,pfscan_OTU	ENSG00000164164		0.383	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	-	0	67	0	T	NM_017493		146095823	-1	tier1	-	no_errors	ENST00000447906	ensembl	human	known	74_37	missense	25.00	48	16	SNP	1.000	C	C	146095823	T	C	146095823	3	2	182	1	0	0	0	0	1	0	0	0	11353	1841	64	4	3195	4	OTUD4	4	146095823	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	6995286	146095823	45058453	76	45252											
TLR2	7097	genome.wustl.edu	37	chr4	154626358	154626358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctacctggagtggcccatgGacgaggctcagcgggaagga	9	5	16	11	2	1	0	1	0	0	0	1	5	1	4	3	6	2	1	3	6	2	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:154626358G>T	ENST00000260010.6	+	1	3707	c.2299G>T	c.(2299-2301)Gac>Tac	p.D767Y		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	767	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|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 cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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 biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GTGGCCCATGGACGAGGCTCA	0.478																																																	0													67	71	69					4																	154626358		2201	4299	6500	SO:0001583	missense	0			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.2299G>T	4.37:g.154626358G>T	ENSP00000260010:p.Asp767Tyr		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D767Y	ENST00000260010.6	37	c.2299	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735456	0.69189	.	.	ENSG00000137462	ENST00000260010	T	0.10005	2.92	5.63	5.63	0.86233	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.417922	0.25419	N	0.030813	T	0.37625	0.1010	M	0.79123	2.44	0.40019	D	0.975389	D	0.89917	1.0	D	0.75020	0.985	T	0.10917	-1.0609	10	0.87932	D	0	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	767	O60603	TLR2_HUMAN	Y	767	ENSP00000260010:D767Y	ENSP00000260010:D767Y	D	+	1	0	TLR2	154845808	1.000000	0.71417	0.035000	0.18076	0.002000	0.02628	4.583000	0.60964	2.814000	0.96858	0.655000	0.94253	GAC	TLR2	-	pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000137462		0.478	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1		0	35	0	G			154626358	1			no_errors	ENST00000260010	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.536	T	T	154626358	G	T	154626358	3	4	182	1	0	0	0	0	1	0	0	0	15998	1174	41	3	2301	3	TLR2	4	154626358	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	8530535	154626358	36527918	77	45253											
ETFDH	2110	genome.wustl.edu	37	chr4	159627784	159627784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcaaaattgttgaaggttCtgactttgaacggctcaagc	11	12	9	9	1	3	3	2	3	1	0	3	3	3	3	1	2	2	3	1	2	5	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:159627784C>T	ENST00000511912.1	+	12	1804	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	ETFDH_ENST00000307738.5_Missense_Mutation_p.S444F	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	491					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)		GTTGAAGGTTCTGACTTTGAA	0.373																																																	0													138	134	135					4																	159627784		2203	4300	6503	SO:0001583	missense	0			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.1472C>T	4.37:g.159627784C>T	ENSP00000426638:p.Ser491Phe		B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2	p.S491F	ENST00000511912.1	37	c.1472	CCDS3800.1	4	.	.	.	.	.	.	.	.	.	.	C	13.52	2.260650	0.39995	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.94417	-3.42;-3.42	5.89	3.14	0.36123	.	0.892392	0.09929	N	0.737428	D	0.92153	0.7512	L	0.43152	1.355	0.09310	N	0.999994	B;B;B	0.29766	0.256;0.256;0.176	B;B;B	0.37144	0.195;0.126;0.242	D	0.84711	0.0734	10	0.72032	D	0.01	-2.9529	7.5921	0.28027	0.0:0.6081:0.2565:0.1353	.	444;430;491	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	F	491;444	ENSP00000426638:S491F;ENSP00000303552:S444F	ENSP00000303552:S444F	S	+	2	0	ETFDH	159847234	0.000000	0.05858	0.977000	0.42913	0.994000	0.84299	0.741000	0.26202	0.348000	0.23949	0.591000	0.81541	TCT	ETFDH	-	pfam_ETFD_OxRdtase	ENSG00000171503		0.373	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFDH	HGNC	protein_coding	OTTHUMT00000365718.2	-	0	57	0	C			159627784	1	tier1	-	no_errors	ENST00000511912	ensembl	human	known	74_37	missense	54.00	23	27	SNP	0.042	T	T	159627784	C	T	159627784	3	4	182	1	0	0	0	0	1	0	0	0	5287	913	32	3	1518	3	ETFDH	4	159627784	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	5001426	159627784	31526492	78	45254											
KLHL2	11275	genome.wustl.edu	37	chr4	166220690	166220690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcattggtcaagaataGcagtgcttgcaaagattacc	14	9	11	7	0	1	2	1	0	0	2	1	3	1	3	1	2	5	4	1	2	6	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:166220690G>A	ENST00000226725.6	+	8	1062	c.803G>A	c.(802-804)aGc>aAc	p.S268N	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.S272N|KLHL2_ENST00000538127.1_Missense_Mutation_p.S180N|KLHL2_ENST00000421009.2_Missense_Mutation_p.S171N|KLHL2_ENST00000506761.1_Missense_Mutation_p.S102N	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	268					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTCAAGAATAGCAGTGCTTGC	0.433																																																	0													111	105	107					4																	166220690		2203	4300	6503	SO:0001583	missense	0			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.803G>A	4.37:g.166220690G>A	ENSP00000226725:p.Ser268Asn		A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S268N	ENST00000226725.6	37	c.803	CCDS34094.1	4	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769810	0.31320	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.74002	-0.76;-0.76;-0.8;-0.56;-0.59	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	N	0.11927	0.2	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.57335	-0.7829	10	0.02654	T	1	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	272;268	B4DFH7;O95198	.;KLHL2_HUMAN	N	268;272;180;171;102	ENSP00000226725:S268N;ENSP00000424198:S272N;ENSP00000437526:S180N;ENSP00000408974:S171N;ENSP00000424108:S102N	ENSP00000226725:S268N	S	+	2	0	KLHL2	166440140	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.761000	0.68801	2.894000	0.99253	0.655000	0.94253	AGC	KLHL2	-	pirsf_Kelch-like_gigaxonin	ENSG00000109466		0.433	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLHL2	HGNC	protein_coding	OTTHUMT00000364439.1	-	0	61	0	G			166220690	1	tier1	-	no_errors	ENST00000226725	ensembl	human	known	74_37	missense	60.38	21	32	SNP	1.000	A	A	166220690	G	A	166220690	3	1	182	1	0	0	0	0	1	0	0	0	8401	971	34	3	875	3	KLHL2	4	166220690	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	6592906	166220690	24933586	79	45255											
ZFP42	132625	genome.wustl.edu	37	chr4	188924576	188924576	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaggaatagagctgccctGagaaagcatctcctcattca	12	10	9	10	0	3	3	2	2	1	2	4	5	3	4	2	1	3	2	2	1	3	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr4:188924576G>A	ENST00000326866.4	+	4	1023	c.615G>A	c.(613-615)ctG>ctA	p.L205L	ZFP42_ENST00000509524.1_Silent_p.L205L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	205					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAGCTGCCCTGAGAAAGCATC	0.483																																																	0													122	126	124					4																	188924576		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.615G>A	4.37:g.188924576G>A			D3DP65|Q8WXE2	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L205	ENST00000326866.4	37	c.615	CCDS3849.1	4																																																																																			ZFP42	-	smart_Znf_C2H2-like	ENSG00000179059		0.483	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1		0	17	0	G	NM_174900		188924576	1			no_errors	ENST00000326866	ensembl	human	known	74_37	silent	17.65	14	3	SNP	1.000	A	A	188924576	G	A	188924576	2	1	182	1	0	0	0	0	0	0	0	1	17698	1277	45	3		3	ZFP42	4	188924576	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	22703886	188924576	2229700	80	45256											
DNAH5	1767	genome.wustl.edu	37	chr5	13864573	13864573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaacttaaagctttcattcCccacatccagactgtgcccg	10	12	5	14	1	1	1	1	0	0	1	3	1	3	1	4	0	3	1	4	0	3	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:13864573C>T	ENST00000265104.4	-	28	4633	c.4529G>A	c.(4528-4530)gGg>gAg	p.G1510E	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1510	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTTTCATTCCCCACATCCAG	0.473									Kartagener syndrome																																								0													72	72	72					5																	13864573		2203	4300	6503	SO:0001583	missense	0	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.4529G>A	5.37:g.13864573C>T	ENSP00000265104:p.Gly1510Glu		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G1510E	ENST00000265104.4	37	c.4529	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	0.058	-1.230663	0.01518	.	.	ENSG00000039139	ENST00000265104	T	0.59906	0.23	5.32	4.33	0.51752	Dynein heavy chain, domain-2 (1);	0.221994	0.44688	D	0.000425	T	0.10252	0.0251	N	0.00025	-2.685	0.31319	N	0.686252	B	0.02656	0.0	B	0.04013	0.001	T	0.43294	-0.9400	10	0.02654	T	1	.	3.4722	0.07571	0.0:0.6297:0.0:0.3703	.	1510	Q8TE73	DYH5_HUMAN	E	1510	ENSP00000265104:G1510E	ENSP00000265104:G1510E	G	-	2	0	DNAH5	13917573	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	2.763000	0.47605	2.488000	0.83962	0.632000	0.83419	GGG	DNAH5	-	pfam_Dynein_heavy_dom-2	ENSG00000039139		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	37	0	C	NM_001369		13864573	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	5.80	130	8	SNP	1.000	T	T	13864573	C	T	13864573	3	4	182	1	0	0	0	0	1	0	0	0	4618	623	22	3	9553	3	DNAH5	5	13864573	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09		13864573	167050687	81	45257											
TARS	6897	genome.wustl.edu	37	chr5	33467748	33467748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggggaacgcaccatttctGaaactatcgagcggctacag	12	7	11	11	4	1	1	0	1	1	0	2	3	1	2	1	3	4	2	1	3	4	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:33467748G>A	ENST00000265112.3	+	19	2418	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	TARS_ENST00000414361.2_Missense_Mutation_p.E582K|TARS_ENST00000455217.2_Missense_Mutation_p.E736K|TARS_ENST00000541634.1_Missense_Mutation_p.E599K|TARS_ENST00000502553.1_Missense_Mutation_p.E703K	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	703					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)	CACCATTTCTGAAACTATCGA	0.423																																																	0													59	60	60					5																	33467748		2203	4300	6503	SO:0001583	missense	0			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.2107G>A	5.37:g.33467748G>A	ENSP00000265112:p.Glu703Lys		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.E703K	ENST00000265112.3	37	c.2107	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	g	17.68	3.449687	0.63290	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.2	5.2	0.72013	Anticodon-binding (3);	0.099164	0.64402	D	0.000002	D	0.84334	0.5449	L	0.56124	1.755	0.80722	D	1	B;B;B;B	0.15719	0.014;0.009;0.0;0.005	B;B;B;B	0.27715	0.082;0.023;0.003;0.023	T	0.79916	-0.1601	10	0.36615	T	0.2	-30.3193	18.7427	0.91780	0.0:0.0:1.0:0.0	.	582;736;599;703	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	K	703;703;599;736;582	ENSP00000424387:E703K;ENSP00000265112:E703K;ENSP00000438469:E599K;ENSP00000387710:E736K;ENSP00000394291:E582K	ENSP00000265112:E703K	E	+	1	0	TARS	33503505	1.000000	0.71417	0.795000	0.32087	0.433000	0.31745	6.561000	0.73955	2.418000	0.82041	0.557000	0.71058	GAA	TARS	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa	ENSG00000113407		0.423	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	-	0	54	0	G	NM_152295		33467748	1	tier1	-	no_errors	ENST00000265112	ensembl	human	known	74_37	missense	12.75	89	13	SNP	1.000	A	A	33467748	G	A	33467748	3	1	182	1	0	0	0	0	1	0	0	0	15606	1291	45	3	2181	3	TARS	5	33467748	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	19603175	33467748	147447512	82	45258											
SPEF2	79925	genome.wustl.edu	37	chr5	35628627	35628627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaagttctacacaagtttGaacttcaggatgatttttca	13	14	8	6	0	3	3	2	2	1	1	3	5	3	4	0	1	2	2	0	1	4	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:35628627G>A	ENST00000356031.3	+	2	278	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	SPEF2_ENST00000282469.6_Missense_Mutation_p.E42K|SPEF2_ENST00000440995.2_Missense_Mutation_p.E42K|SPEF2_ENST00000509059.1_Missense_Mutation_p.E42K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	42	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			ACACAAGTTTGAACTTCAGGA	0.348																																																	0													142	140	141					5																	35628627		2203	4300	6503	SO:0001583	missense	0			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.124G>A	5.37:g.35628627G>A	ENSP00000348314:p.Glu42Lys		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.E42K	ENST00000356031.3	37	c.124	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270816	0.80469	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.64	5.64	0.86602	Calponin homology domain (1);	0.292353	0.32068	N	0.006628	T	0.37293	0.0998	L	0.54323	1.7	0.80722	D	1	D;P;P	0.56746	0.977;0.939;0.617	P;P;B	0.51453	0.67;0.67;0.124	T	0.03684	-1.1013	10	0.46703	T	0.11	.	16.4177	0.83748	0.0:0.0:1.0:0.0	.	42;42;42	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	K	42	ENSP00000282469:E42K;ENSP00000348314:E42K;ENSP00000421593:E42K;ENSP00000426259:E42K;ENSP00000412125:E42K	ENSP00000282469:E42K	E	+	1	0	SPEF2	35664384	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.900000	0.48687	2.658000	0.90341	0.655000	0.94253	GAA	SPEF2	-	pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain	ENSG00000152582		0.348	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	69	0	G	NM_144722		35628627	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	61.98	46	75	SNP	1.000	A	A	35628627	G	A	35628627	3	1	182	1	0	0	0	0	1	0	0	0	15082	1291	45	3	130	3	SPEF2	5	35628627	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	2160879	35628627	145286633	83	45259											
RICTOR	253260	genome.wustl.edu	37	chr5	38950435	38950435	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	caatgcttggtgtactaccaGtgtcttcaatgtgcttattc	8	16	8	9	0	2	0	1	0	1	0	3	0	2	0	1	1	4	3	1	1	5	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:38950435G>A	ENST00000357387.3	-	31	3545	c.3515C>T	c.(3514-3516)aCt>aTt	p.T1172I	RICTOR_ENST00000296782.5_Missense_Mutation_p.T1172I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGTACTACCAGTGTCTTCAAT	0.348																																																	0													160	169	166					5																	38950435		2203	4299	6502	SO:0001583	missense	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3515C>T	5.37:g.38950435G>A	ENSP00000349959:p.Thr1172Ile			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T1172I	ENST00000357387.3	37	c.3515	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503954	0.44558	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.46063	0.88;0.88	5.75	5.75	0.90469	.	0.410597	0.31177	N	0.008109	T	0.40719	0.1128	L	0.40543	1.245	0.43471	D	0.995687	B;B	0.30281	0.13;0.275	B;B	0.29524	0.075;0.103	T	0.30621	-0.9972	10	0.87932	D	0	-4.2338	20.3046	0.98621	0.0:0.0:1.0:0.0	.	1172;1172	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	1172	ENSP00000349959:T1172I;ENSP00000296782:T1172I	ENSP00000296782:T1172I	T	-	2	0	RICTOR	38986192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.378000	0.44309	2.878000	0.98634	0.650000	0.86243	ACT	RICTOR	-	NULL	ENSG00000164327		0.348	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	-	0	37	0	G	NM_152756		38950435	-1	tier1	-	no_errors	ENST00000296782	ensembl	human	known	74_37	missense	7.69	96	8	SNP	1.000	A	A	38950435	G	A	38950435	3	1	182	1	0	0	0	0	1	0	0	0	13403	1029	36	3	1643	3	RICTOR	5	38950435	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	3321808	38950435	141964825	84	45260											
EMB	133418	genome.wustl.edu	37	chr5	49736952	49736952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcagccggggcgtacgcgCcctggcctccagcaggccgg	5	3	17	16	5	0	0	0	0	0	0	1	1	1	0	5	5	4	3	5	5	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:49736952C>T	ENST00000303221.5	-	1	249	c.34G>A	c.(34-36)Gcg>Acg	p.A12T	EMB_ENST00000506190.1_Intron|EMB_ENST00000508934.1_Missense_Mutation_p.A12T	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	12					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GGCGTACGCGCCCTGGCCTCC	0.741																																																	0													4	4	4					5																	49736952		1564	2795	4359	SO:0001583	missense	0			BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30465	protein-coding gene	gene with protein product		615669	"embigin homolog (mouse)"			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.34G>A	5.37:g.49736952C>T	ENSP00000302289:p.Ala12Thr		B7Z6S3|B7Z902	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.A12T	ENST00000303221.5	37	c.34	CCDS3953.1	5	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911648	0.72983	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934	T;T	0.50548	0.86;0.74	3.25	3.25	0.37280	.	0.613450	0.12358	U	0.475928	T	0.33818	0.0876	N	0.24115	0.695	0.37965	D	0.933087	B;P	0.35107	0.345;0.484	B;B	0.37198	0.133;0.243	T	0.18903	-1.0322	9	.	.	.	-1.4178	10.1893	0.43017	0.0:1.0:0.0:0.0	.	12;12	D6RDX7;Q6PCB8	.;EMB_HUMAN	T	12	ENSP00000302289:A12T;ENSP00000425215:A12T	.	A	-	1	0	EMB	49772709	0.010000	0.17322	0.011000	0.14972	0.025000	0.11179	2.737000	0.47393	1.826000	0.53198	0.184000	0.17185	GCG	EMB	-	NULL	ENSG00000170571		0.741	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMB	HGNC	protein_coding	OTTHUMT00000253853.1	-	0	20	0	C	NM_198449		49736952	-1	tier1	-	no_errors	ENST00000303221	ensembl	human	known	74_37	missense	44.44	10	8	SNP	0.020	T	T	49736952	C	T	49736952	3	4	182	1	0	0	0	0	1	0	0	0	5101	739	26	3	985	3	EMB	5	49736952	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	10786517	49736952	131178308	85	45261											
TRIM23	373	genome.wustl.edu	37	chr5	64890374	64890374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagcaaaaatcaggagcaGagcatctcggagttcttttt	12	12	10	7	1	3	1	1	0	2	1	4	3	3	3	0	2	3	5	0	2	3	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:64890374G>T	ENST00000231524.9	-	10	1890	c.1519C>A	c.(1519-1521)Ctg>Atg	p.L507M	TRIM23_ENST00000274327.7_Missense_Mutation_p.L507M|TRIM23_ENST00000381018.3_Missense_Mutation_p.L507M	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	507	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L507V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATCAGGAGCAGAGCATCTCGG	0.358																																																	1	Substitution - Missense(1)	lung(1)											133	132	132					5																	64890374		2202	4300	6502	SO:0001583	missense	0			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1519C>A	5.37:g.64890374G>T	ENSP00000231524:p.Leu507Met		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,superfamily_P-loop_NTPase,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L507M	ENST00000231524.9	37	c.1519	CCDS3987.1	5	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904931	0.52333	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.82526	-1.62;-1.62;-1.62	5.64	3.27	0.37495	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	L	0.53671	1.685	0.52099	D	0.999943	D;D;B	0.71674	0.998;0.996;0.226	D;D;B	0.72338	0.977;0.931;0.262	D	0.84732	0.0746	10	0.66056	D	0.02	.	8.113	0.30926	0.6939:0.0:0.3061:0.0	.	507;507;507	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	M	507	ENSP00000231524:L507M;ENSP00000370406:L507M;ENSP00000274327:L507M	ENSP00000231524:L507M	L	-	1	2	TRIM23	64926130	0.952000	0.32445	1.000000	0.80357	0.993000	0.82548	1.042000	0.30303	0.419000	0.25927	-0.469000	0.05056	CTG	TRIM23	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000113595		0.358	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM23	HGNC	protein_coding	OTTHUMT00000215058.2		0	49	0	G	NM_001656		64890374	-1			no_errors	ENST00000231524	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.999	T	T	64890374	G	T	64890374	3	4	182	1	0	0	0	0	1	0	0	0	16545	933	33	3	280	3	TRIM23	5	64890374	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	15153422	64890374	116024886	86	45262											
ERBB2IP	55914	genome.wustl.edu	37	chr5	65350089	65350089	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtataatatccaataCagtagcagtgctgcagtcaa	15	9	7	10	0	1	0	1	0	0	0	2	0	2	0	2	0	4	5	2	0	7	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:65350089C>A	ENST00000284037.5	+	21	3332	c.2943C>A	c.(2941-2943)taC>taA	p.Y981*	ERBB2IP_ENST00000506030.1_Nonsense_Mutation_p.Y981*|ERBB2IP_ENST00000508515.1_Nonsense_Mutation_p.Y981*|ERBB2IP_ENST00000380939.2_Nonsense_Mutation_p.Y981*|ERBB2IP_ENST00000380938.2_Nonsense_Mutation_p.Y981*|ERBB2IP_ENST00000380943.2_Nonsense_Mutation_p.Y981*|ERBB2IP_ENST00000380936.1_Nonsense_Mutation_p.Y981*|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Nonsense_Mutation_p.Y977*|ERBB2IP_ENST00000380935.1_Nonsense_Mutation_p.Y981*	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	981					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)		ATATCCAATACAGTAGCAGTG	0.443																																																	0													64	69	67					5																	65350089		2203	4300	6503	SO:0001587	stop_gained	0				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.2943C>A	5.37:g.65350089C>A	ENSP00000284037:p.Tyr981*		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Y981*	ENST00000284037.5	37	c.2943	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	C	40	8.155539	0.98680	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	.	.	.	5.56	0.553	0.17235	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4281	0.38592	0.0:0.5693:0.0:0.4307	.	.	.	.	X	981;981;981;981;981;981;977;981;981	.	ENSP00000284037:Y981X	Y	+	3	2	ERBB2IP	65385845	0.969000	0.33509	0.989000	0.46669	0.957000	0.61999	0.173000	0.16724	-0.203000	0.10251	-0.982000	0.02568	TAC	ERBB2IP	-	NULL	ENSG00000112851		0.443	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	-	0	21	0	C	NM_018695		65350089	1	tier1	-	no_errors	ENST00000284037	ensembl	human	known	74_37	nonsense	23.33	23	7	SNP	1.000	A	A	65350089	C	A	65350089	4	1	182	1	0	0	0	0	0	1	0	0	5223	489	17	3	3017	3	ERBB2IP	5	65350089	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	459715	65350089	115565171	87	45263											
RAD17	5884	genome.wustl.edu	37	chr5	68692375	68692376	+	Splice_Site	INS	-	-	AA																															tttctaataaataaaaaggtINSaaaaaaaaaaaaaaaaattc																								rs377737971|rs34097088|rs75928221		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:68692375_68692376insAA	ENST00000509734.1	+	15	2283		c.e15+2		RAD17_ENST00000305138.4_Splice_Site|RAD17_ENST00000282891.6_Splice_Site|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Splice_Site|RAD17_ENST00000354312.3_Splice_Site|RAD17_ENST00000354868.5_Splice_Site|RAD17_ENST00000358030.2_Splice_Site|RAD17_ENST00000361732.2_Splice_Site|RAD17_ENST00000345306.6_Splice_Site|RAD17_ENST00000380774.3_Splice_Site			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)						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)		AATAAAAAGGTAAAAAAAAAAA	0.322								Other conserved DNA damage response genes																																									0																																										SO:0001630	splice_region_variant	0			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.1605+2->AA	5.37:g.68692384_68692385dupAA			A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Splice_Site	INS	-	e13+2	ENST00000509734.1	37	c.1605+2_1605+1	CCDS4003.1	5																																																																																			RAD17	-	-	ENSG00000152942		0.322	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RAD17	HGNC	protein_coding	OTTHUMT00000369171.1		0	18	0	-	NM_133344	Intron	68692376	1	tier1		no_errors	ENST00000380774	ensembl	human	known	74_37	splice_site_ins	19.05	17	4	INS	1.000:0.992	AA	AA	68692376	-	AA	68692375	8	5	182	1	0	1	1	0	0	0	1	0	13024	1652	57	0	1670	0	RAD17	5	68692375	Splice_Site	INS	-	TCGA-Z6-A8JE-01A-11D-A37C-09	3342286	68692375	112222885	88	45264											
RASA1	5921	genome.wustl.edu	37	chr5	86658398	86658398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtactcaatgacacagtgGatggcaaggaaatctataat	17	9	9	6	0	2	1	1	1	1	0	2	3	2	3	0	3	1	2	0	3	7	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:86658398G>T	ENST00000274376.6	+	10	1927	c.1363G>T	c.(1363-1365)Gat>Tat	p.D455Y	RASA1_ENST00000512763.1_Missense_Mutation_p.D288Y|RASA1_ENST00000456692.2_Missense_Mutation_p.D278Y|RASA1_ENST00000506290.1_Missense_Mutation_p.D289Y	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	455					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)		TGACACAGTGGATGGCAAGGA	0.294																																																	0													75	79	78					5																	86658398		2203	4297	6500	SO:0001583	missense	0				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.1363G>T	5.37:g.86658398G>T	ENSP00000274376:p.Asp455Tyr		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.D455Y	ENST00000274376.6	37	c.1363	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626163	0.87560	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.74526	-0.84;-0.85;-0.85;-0.85	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	L	0.44542	1.39	0.80722	D	1	D;P;B;P;P	0.76494	0.999;0.718;0.25;0.775;0.557	D;B;B;B;B	0.77557	0.99;0.195;0.07;0.283;0.123	D	0.84078	0.0383	10	0.72032	D	0.01	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	289;288;289;278;455	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	Y	455;488;278;288;289	ENSP00000274376:D455Y;ENSP00000411221:D278Y;ENSP00000422008:D288Y;ENSP00000420905:D289Y	ENSP00000274376:D455Y	D	+	1	0	RASA1	86694154	1.000000	0.71417	0.997000	0.53966	0.756000	0.42949	9.721000	0.98766	2.614000	0.88457	0.455000	0.32223	GAT	RASA1	-	NULL	ENSG00000145715		0.294	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	-	0	54	0	G	NM_002890		86658398	1	tier1	-	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	19.15	38	9	SNP	1.000	T	T	86658398	G	T	86658398	3	4	182	1	0	0	0	0	1	0	0	0	13105	1174	41	3	1413	3	RASA1	5	86658398	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	17966023	86658398	94256862	89	45265											
DMXL1	1657	genome.wustl.edu	37	chr5	118506235	118506235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagttggatgcaagggaaGataagtcttctgctgttgat	12	13	12	4	0	2	2	0	1	2	1	2	4	2	4	0	2	2	4	0	2	5	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:118506235G>T	ENST00000311085.8	+	24	5829	c.5749G>T	c.(5749-5751)Gat>Tat	p.D1917Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.D1917Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1917										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)		TGCAAGGGAAGATAAGTCTTC	0.388																																																	0													118	115	116					5																	118506235		2202	4300	6502	SO:0001583	missense	0			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.5749G>T	5.37:g.118506235G>T	ENSP00000309690:p.Asp1917Tyr			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1917Y	ENST00000311085.8	37	c.5749	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	8.929	0.962898	0.18583	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10763	2.84;2.84	5.68	4.73	0.59995	.	0.561145	0.20319	N	0.094675	T	0.08626	0.0214	N	0.16656	0.425	0.36248	D	0.853745	B;B	0.20164	0.042;0.025	B;B	0.24269	0.052;0.022	T	0.16512	-1.0400	10	0.56958	D	0.05	-8.0199	13.6401	0.62246	0.0:0.1021:0.7564:0.1414	.	1917;1917	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	1917	ENSP00000309690:D1917Y;ENSP00000439479:D1917Y	ENSP00000309690:D1917Y	D	+	1	0	DMXL1	118534134	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	3.469000	0.53093	2.679000	0.91253	0.557000	0.71058	GAT	DMXL1	-	NULL	ENSG00000172869		0.388	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	-	0	50	0	G	NM_005509		118506235	1	tier1	-	no_errors	ENST00000539542	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.789	T	T	118506235	G	T	118506235	3	4	182	1	0	0	0	0	1	0	0	0	4608	942	33	3	5843	3	DMXL1	5	118506235	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	31847837	118506235	62409025	90	45266											
FNIP1	96459	genome.wustl.edu	37	chr5	131042140	131042140	+	Missense_Mutation	SNP	T	T	A	0	1	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	cattttccaaacttgttgttTggctgcgtcgccaacgtcgc	6	14	9	12	4	0	0	0	0	0	0	3	0	1	0	2	1	3	3	2	1	2	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:131042140T>A	ENST00000510461.1	-	9	973	c.878A>T	c.(877-879)cAa>cTa	p.Q293L	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.Q293L|FNIP1_ENST00000307954.8_Missense_Mutation_p.Q248L|FNIP1_ENST00000307968.7_Missense_Mutation_p.Q265L	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	293					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)		ACTTGTTGTTTGGCTGCGTCG	0.448																																																	0													98	94	95					5																	131042140		2203	4300	6503	SO:0001583	missense	0			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.878A>T	5.37:g.131042140T>A	ENSP00000421985:p.Gln293Leu		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	NULL	p.Q293L	ENST00000510461.1	37	c.878	CCDS34227.1	5	.	.	.	.	.	.	.	.	.	.	T	33	5.209366	0.95069	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.25749	2.56;2.57;2.54;1.78	5.6	5.6	0.85130	.	.	.	.	.	T	0.45196	0.1330	L	0.48935	1.535	0.80722	D	1	D;D;D;D	0.67145	0.996;0.992;0.996;0.995	D;D;D;D	0.77557	0.99;0.979;0.99;0.92	T	0.32134	-0.9918	9	0.54805	T	0.06	-6.8236	16.0773	0.80976	0.0:0.0:0.0:1.0	.	293;293;265;293	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	L	265;248;53;293;293	ENSP00000309266:Q265L;ENSP00000310453:Q248L;ENSP00000421985:Q293L;ENSP00000425619:Q293L	ENSP00000310453:Q248L	Q	-	2	0	FNIP1	131070039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.254000	0.74563	0.482000	0.46254	CAA	FNIP1	-	NULL	ENSG00000217128		0.448	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	HGNC	protein_coding	OTTHUMT00000370077.1	-	0	58	0	T	NM_133372		131042140	-1	tier1	-	no_errors	ENST00000510461	ensembl	human	known	74_37	missense	14.29	42	7	SNP	1.000	A	A	131042140	T	A	131042140	3	1	182	1	0	0	0	0	1	0	0	0	5997	1812	63	5	2662	5	FNIP1	5	131042140	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	12535905	131042140	49873120	91	45267											
AFF4	27125	genome.wustl.edu	37	chr5	132270120	132270120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttgcatcagggtcccgagGtgatttggagcgttgatgtt	6	14	15	6	2	1	2	1	2	0	0	2	4	2	3	1	3	2	4	1	3	0	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:132270120G>T	ENST00000265343.5	-	3	1016	c.637C>A	c.(637-639)Cct>Act	p.P213T	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.P213T	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	213	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGTCCCGAGGTGATTTGGAG	0.483																																					Ovarian(126;889 1733 2942 10745 11605)												0													113	107	109					5																	132270120		2203	4300	6503	SO:0001583	missense	0			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.637C>A	5.37:g.132270120G>T	ENSP00000265343:p.Pro213Thr		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.P213T	ENST00000265343.5	37	c.637	CCDS4164.1	5	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310844	0.81358	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.67171	-0.25;-0.25	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.82609	0.5074	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	0.996;0.998;0.999	T	0.82242	-0.0554	10	0.51188	T	0.08	-11.5401	19.876	0.96870	0.0:0.0:1.0:0.0	.	213;213;213	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	T	213	ENSP00000265343:P213T;ENSP00000367858:P213T	ENSP00000265343:P213T	P	-	1	0	AFF4	132298019	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.743000	0.98849	2.704000	0.92352	0.557000	0.71058	CCT	AFF4	-	pfam_TF_AF4/FMR2	ENSG00000072364		0.483	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1		0	60	0	G	NM_014423		132270120	-1			no_errors	ENST00000265343	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	132270120	G	T	132270120	3	4	182	1	0	0	0	0	1	0	0	0	359	1261	44	3	2930	3	AFF4	5	132270120	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1227980	132270120	48645140	92	45268											
TMCO6	55374	genome.wustl.edu	37	chr5	140021959	140021959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgaggctgtgagaaggcaGctcctgccacagggcattgt	9	8	15	9	0	0	2	0	2	0	1	1	3	1	2	2	3	2	4	2	3	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:140021959G>T	ENST00000394671.3	+	5	659	c.558G>T	c.(556-558)caG>caT	p.Q186H	TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000511410.1_3'UTR|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.Q186H	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	186					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGAAGGCAGCTCCTGCCAC	0.562																																																	0													63	73	70					5																	140021959		2139	4237	6376	SO:0001583	missense	0			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.558G>T	5.37:g.140021959G>T	ENSP00000378166:p.Gln186His		Q9BUU0|Q9P198	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB	p.Q186H	ENST00000394671.3	37	c.558	CCDS4233.2	5	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988757	0.35131	.	.	ENSG00000113119	ENST00000394671;ENST00000252100	T;T	0.30448	1.53;1.53	5.8	4.92	0.64577	Armadillo-like helical (1);Armadillo-type fold (1);	0.098436	0.39909	U	0.001224	T	0.38321	0.1036	N	0.21373	0.66	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.65443	0.935;0.935	T	0.27839	-1.0062	10	0.62326	D	0.03	-11.7535	11.8921	0.52635	0.1429:0.0:0.8571:0.0	.	186;186	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	H	186	ENSP00000378166:Q186H;ENSP00000252100:Q186H	ENSP00000252100:Q186H	Q	+	3	2	TMCO6	140002143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.495000	0.22483	1.445000	0.47624	0.561000	0.74099	CAG	TMCO6	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000113119		0.562	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO6	HGNC	protein_coding	OTTHUMT00000251666.2	-	0	24	0	G	NM_018502		140021959	1	tier1	-	no_errors	ENST00000252100	ensembl	human	known	74_37	missense	76.47	4	13	SNP	1.000	T	T	140021959	G	T	140021959	3	4	182	1	0	0	0	0	1	0	0	0	16047	962	34	3	576	3	TMCO6	5	140021959	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	7751839	140021959	40893301	93	45269											
PCDH12	51294	genome.wustl.edu	37	chr5	141334669	141334669	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggggacactttgccattGagatgtcgctgccgtctcag	7	11	12	11	2	2	1	2	1	1	1	4	3	2	2	2	2	2	1	2	2	0	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:141334669G>C	ENST00000231484.3	-	1	3958	c.2748C>G	c.(2746-2748)ctC>ctG	p.L916L	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	916					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)			CTTTGCCATTGAGATGTCGCT	0.657																																																	0													43	48	47					5																	141334669		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2748C>G	5.37:g.141334669G>C			Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L916	ENST00000231484.3	37	c.2748	CCDS4269.1	5																																																																																			PCDH12	-	NULL	ENSG00000113555		0.657	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	-	0	82	0	G	NM_016580		141334669	-1	tier1	-	no_errors	ENST00000231484	ensembl	human	known	74_37	silent	72.22	25	65	SNP	0.999	C	C	141334669	G	C	141334669	2	2	182	1	0	0	0	0	0	0	0	1	11549	1277	45	5		5	PCDH12	5	141334669	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1312710	141334669	39580591	94	45270											
RANBP17	64901	genome.wustl.edu	37	chr5	170319525	170319525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaccaatttgtcttcagaGaaattattgctgatgtgaag	14	13	9	5	0	2	4	1	2	1	2	2	5	2	4	1	0	1	1	1	0	5	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr5:170319525G>A	ENST00000523189.1	+	4	555	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	131					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)			TGTCTTCAGAGAAATTATTGC	0.388			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													177	171	173					5																	170319525		2203	4300	6503	SO:0001583	missense	0			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.391G>A	5.37:g.170319525G>A	ENSP00000427975:p.Glu131Lys		Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.E131K	ENST00000523189.1	37	c.391	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443415	0.63067	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.70045	-0.45	5.78	5.78	0.91487	Armadillo-type fold (1);	0.287209	0.30219	N	0.010133	T	0.52058	0.1711	L	0.31476	0.935	0.40817	D	0.983471	B;B	0.19817	0.018;0.039	B;B	0.19148	0.017;0.024	T	0.47598	-0.9105	10	0.12430	T	0.62	-6.7573	12.9017	0.58128	0.0748:0.0:0.9252:0.0	.	131;181	Q9H2T7;B4DQG2	RBP17_HUMAN;.	K	131;49	ENSP00000427975:E131K	ENSP00000373770:E131K	E	+	1	0	RANBP17	170252103	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.238000	0.65366	2.726000	0.93360	0.561000	0.74099	GAA	RANBP17	-	superfamily_ARM-type_fold	ENSG00000204764		0.388	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	-	0	40	0	G	NM_022897		170319525	1	tier1	-	no_errors	ENST00000523189	ensembl	human	known	74_37	missense	30.30	46	20	SNP	1.000	A	A	170319525	G	A	170319525	3	1	182	1	0	0	0	0	1	0	0	0	13072	943	33	3	405	3	RANBP17	5	170319525	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	28984856	170319525	10595735	95	45271											
NOL7	51406	genome.wustl.edu	37	chr6	13615843	13615843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagaggagcggcgagtgcggGagaccgtgcgcaggttcgga	9	4	20	8	6	0	2	0	0	0	2	1	6	0	4	1	5	3	2	1	5	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:13615843G>C	ENST00000451315.2	+	1	285	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	AL441883.1_ENST00000600057.1_3'UTR|RP1-223E5.4_ENST00000566170.1_RNA|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	85						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			GCGAGTGCGGGAGACCGTGCG	0.652											OREG0017200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													12	16	15					6																	13615843		2198	4294	6492	SO:0001583	missense	0			AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"chromosome 6 open reading frame 90", "polyglutamine binding protein 3"	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.253G>C	6.37:g.13615843G>C	ENSP00000405674:p.Glu85Gln	688	Q5T297|Q9Y3U7	Missense_Mutation	SNP	pfam_NUC129	p.E85Q	ENST00000451315.2	37	c.253	CCDS4528.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.56|18.56	3.650761|3.650761	0.67472|0.67472	.|.	.|.	ENSG00000225921|ENSG00000225921	ENST00000451315|ENST00000420088	T|.	0.28895|.	1.59|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	0.267267|.	0.36066|.	N|.	0.002807|.	T|T	0.20740|0.20740	0.0499|0.0499	L|L	0.29908|0.29908	0.895|0.895	0.29842|0.29842	N|N	0.82915|0.82915	P|.	0.37466|.	0.596|.	B|.	0.37888|.	0.26|.	T|T	0.09100|0.09100	-1.0690|-1.0690	10|5	0.37606|.	T|.	0.19|.	-2.0857|-2.0857	10.8761|10.8761	0.46913|0.46913	0.0881:0.0:0.9119:0.0|0.0881:0.0:0.9119:0.0	.|.	85|.	Q9UMY1|.	NOL7_HUMAN|.	Q|A	85|22	ENSP00000405674:E85Q|.	ENSP00000405674:E85Q|.	E|G	+|+	1|2	0|0	NOL7|NOL7	13723822|13723822	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.539000|6.539000	0.73856|0.73856	2.330000|2.330000	0.79161|0.79161	0.650000|0.650000	0.86243|0.86243	GAG|GGA	NOL7	-	NULL	ENSG00000225921		0.652	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL7	HGNC	protein_coding	OTTHUMT00000039904.1	-	0	38	0	G	NM_016167		13615843	1	tier1	-	no_errors	ENST00000451315	ensembl	human	known	74_37	missense	20.97	49	13	SNP	1.000	C	C	13615843	G	C	13615843	3	2	182	1	0	0	0	0	1	0	0	0	10565	1175	41	5	255	5	NOL7	6	13615843	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		13615843	157499224	96	45272											
KIAA0319	9856	genome.wustl.edu	37	chr6	24572926	24572926	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggtatggcgtctgtactcCctaagtaatagcaaatacaa	15	10	8	8	1	1	0	0	0	1	0	2	0	2	0	1	2	3	4	1	2	9	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:24572926C>T	ENST00000378214.3	-	11	2259	c.1735G>A	c.(1735-1737)Gga>Aga	p.G579R	KIAA0319_ENST00000535378.1_Splice_Site_p.G570R|KIAA0319_ENST00000543707.1_Splice_Site_p.G579R|KIAA0319_ENST00000430948.2_Splice_Site_p.G534R|KIAA0319_ENST00000537886.1_Splice_Site_p.G579R	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	579	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTCTGTACTCCCTaagtaata	0.328																																																	0													87	76	80					6																	24572926		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1735-1G>A	6.37:g.24572926C>T			A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.G579R	ENST00000378214.3	37	c.1735	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912518	0.52439	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	4.31	4.31	0.51392	PKD/Chitinase domain (1);PKD/REJ-like protein (1);PKD domain (3);	1.577660	0.04270	N	0.341865	T	0.80757	0.4684	M	0.88031	2.925	0.50171	D	0.999858	D;D;D	0.67145	0.996;0.973;0.978	D;P;P	0.66196	0.942;0.893;0.897	T	0.73000	-0.4120	10	0.87932	D	0	-1.1866	10.5987	0.45354	0.0:0.9115:0.0:0.0885	.	579;570;579	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	R	579;570;534;579;579	ENSP00000439700:G579R;ENSP00000442403:G570R;ENSP00000401086:G534R;ENSP00000367459:G579R;ENSP00000437656:G579R	ENSP00000367459:G579R	G	-	1	0	KIAA0319	24680905	1.000000	0.71417	0.962000	0.40283	0.087000	0.18053	5.106000	0.64597	2.207000	0.71202	0.655000	0.94253	GGA	KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	ENSG00000137261		0.328	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	-	0	36	0	C	NM_014809	Missense_Mutation	24572926	-1	tier1	-	no_errors	ENST00000378214	ensembl	human	known	74_37	missense	39.47	23	15	SNP	1.000	T	T	24572926	C	T	24572926	5	4	182	1	0	0	0	0	0	0	1	0	8195	637	22	3	1527	3	KIAA0319	6	24572926	Splice_Site	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	10957083	24572926	146542141	97	45273											
HIST1H4C	8364	genome.wustl.edu	37	chr6	26104467	26104467	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaacgtcaggggcgcactCtgtatggcttcggcggctga	8	9	14	10	4	2	1	1	1	1	0	3	1	2	1	0	5	1	4	0	5	3	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:26104467C>T	ENST00000377803.2	+	1	364	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	98					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						GGGGCGCACTCTGTATGGCTT	0.498																																																	0													55	50	52					6																	26104467		2203	4300	6503	SO:0001819	synonymous_variant	0			X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"Histones / Replication-dependent"	4787	protein-coding gene	gene with protein product		602827	"H4 histone family, member G", "histone 1, H4c"	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.292C>T	6.37:g.26104467C>T			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L98	ENST00000377803.2	37	c.292	CCDS4583.1	6																																																																																			HIST1H4C	-	superfamily_Histone-fold,prints_Histone_H4	ENSG00000197061		0.498	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4C	HGNC	protein_coding	OTTHUMT00000040092.2	-	0	35	0	C	NM_003542		26104467	1	tier1	-	no_errors	ENST00000377803	ensembl	human	known	74_37	silent	10.81	33	4	SNP	1.000	T	T	26104467	C	T	26104467	2	4	182	1	0	0	0	0	0	0	0	1	7194	912	32	3		3	HIST1H4C	6	26104467	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	1531541	26104467	145010600	98	45274											
HIST1H4L	8368	genome.wustl.edu	37	chr6	27841093	27841093	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtaactgcatcgcggattaCattctccaaaaacactttaa	14	11	6	10	2	1	0	0	0	1	0	3	1	1	1	1	2	4	2	1	2	5	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:27841093C>G	ENST00000355981.2	-	1	196	c.196G>C	c.(196-198)Gta>Cta	p.V66L	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						TCGCGGATTACATTCTCCAAA	0.577																																																	0													108	91	97					6																	27841093		2203	4300	6503	SO:0001583	missense	0			X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"Histones / Replication-dependent"	4791	protein-coding gene	gene with protein product		602831	"H4 histone family, member K", "histone 1, H4l"	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.196G>C	6.37:g.27841093C>G	ENSP00000348258:p.Val66Leu		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.V66L	ENST00000355981.2	37	c.196	CCDS4637.1	6	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608675	0.46527	.	.	ENSG00000198558	ENST00000355981	T	0.63096	-0.02	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000015	T	0.69314	0.3097	.	.	.	0.50813	D	0.999891	.	.	.	.	.	.	T	0.72080	-0.4398	7	0.54805	T	0.06	.	16.7018	0.85351	0.0:1.0:0.0:0.0	.	.	.	.	L	66	ENSP00000348258:V66L	ENSP00000348258:V66L	V	-	1	0	HIST1H4L	27949072	1.000000	0.71417	0.997000	0.53966	0.011000	0.07611	7.203000	0.77864	2.439000	0.82584	0.655000	0.94253	GTA	HIST1H4L	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000198558		0.577	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4L	HGNC	protein_coding	OTTHUMT00000043513.1	-	0	85	0	C	NM_003546		27841093	-1	tier1	-	no_errors	ENST00000355981	ensembl	human	known	74_37	missense	21.84	68	19	SNP	1.000	G	G	27841093	C	G	27841093	3	3	182	1	0	0	0	0	1	0	0	0	7203	478	17	5	119	5	HIST1H4L	6	27841093	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	1736626	27841093	143273974	99	45275											
HLA-A	3105	genome.wustl.edu	37	chr6	29910769	29910769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actgaccgagtggacctgggGaccctgcgcggctactacaa	9	6	13	13	3	0	1	0	1	0	0	0	4	0	3	3	4	3	1	3	4	3	2	rs61760916		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:29910769G>A	ENST00000396634.1	+	4	650	c.309G>A	c.(307-309)ggG>ggA	p.G103G	HLA-A_ENST00000376802.2_Silent_p.G103G|HLA-A_ENST00000376809.5_Silent_p.G103G|HLA-A_ENST00000376806.5_Silent_p.G103G			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	103	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)	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						TGGACCTGGGGACCCTGCGCG	0.697									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													60	64	63					6																	29910769		2194	4281	6475	SO:0001819	synonymous_variant	0	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.309G>A	6.37:g.29910769G>A			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.G103	ENST00000396634.1	37	c.309	CCDS34373.1	6																																																																																			HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a	ENSG00000206503		0.697	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	-	0	48	0	G	NM_002116		29910769	1	tier1	-	no_errors	ENST00000376806	ensembl	human	known	74_37	silent	50.00	17	17	SNP	0.000	A	A	29910769	G	A	29910769	2	1	182	1	0	0	0	0	0	0	0	1	7222	1161	41	3		3	HLA-A	6	29910769	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	2069676	29910769	141204298	100	45276											
KIAA1949	170954	genome.wustl.edu	37	chr6	30652643	30652643	+	Frame_Shift_Del	DEL	C	C	-																															tctcagaggcctgccctgagCccccgcctcctccttctcag																										TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:30652643delC	ENST00000274853.3	-	1	3029	c.1153delG	c.(1153-1155)gctfs	p.A385fs	PPP1R18_ENST00000399199.3_Frame_Shift_Del_p.A385fs|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	385						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CTGCCCTGAGCCCCCGCCTCC	0.622																																																	0													56	64	62					6																	30652643		1232	2530	3762	SO:0001589	frameshift_variant	0			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1153delG	6.37:g.30652643delC	ENSP00000274853:p.Ala385fs		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Frame_Shift_Del	DEL	NULL	p.A385fs	ENST00000274853.3	37	c.1153	CCDS43444.1	6																																																																																			PPP1R18	-	NULL	ENSG00000146112		0.622	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R18	HGNC	protein_coding	OTTHUMT00000076498.2		0	33	0	C	NM_133471		30652643	-1	tier1		no_errors	ENST00000274853	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.002	-	-	30652643	C	-	30652643	7	5	182	1	0	1	0	1	0	0	0	0	8290	739	26	0	700	0	KIAA1949	6	30652643	Frame_Shift_Del	DEL	C	TCGA-Z6-A8JE-01A-11D-A37C-09	741874	30652643	140462424	101	45277											
RDBP	7936	genome.wustl.edu	37	chr6	31920162	31920162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccggtggcaacccttaggGctgttctggacagctaggga	7	9	14	11	1	1	0	0	0	1	0	2	2	2	2	2	5	2	4	2	5	3	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:31920162G>T	ENST00000375429.3	-	11	1285	c.1059C>A	c.(1057-1059)agC>agA	p.S353R	NELFE_ENST00000375425.5_Missense_Mutation_p.S360R|NELFE_ENST00000444811.2_Missense_Mutation_p.S323R	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	353					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|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)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AACCCTTAGGGCTGTTCTGGA	0.527																																																	0													90	79	83					6																	31920162		2203	4300	6503	SO:0001583	missense	0			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.1059C>A	6.37:g.31920162G>T	ENSP00000364578:p.Ser353Arg		A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S353R	ENST00000375429.3	37	c.1059	CCDS4730.1	6	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769157	0.69992	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811	T;T;T	0.50001	0.8;0.8;0.76	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	L	0.55990	1.75	0.58432	D	0.999991	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.58787	-0.7575	10	0.87932	D	0	-20.0347	9.3416	0.38082	0.16:0.0:0.8399:0.0	.	323;353	B4DUN1;P18615	.;NELFE_HUMAN	R	353;360;323	ENSP00000364578:S353R;ENSP00000364574:S360R;ENSP00000388400:S323R	ENSP00000364574:S360R	S	-	3	2	RDBP	32028141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.779000	0.38624	1.578000	0.49821	0.655000	0.94253	AGC	NELFE	-	NULL	ENSG00000204356		0.527	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NELFE	HGNC	protein_coding	OTTHUMT00000076047.4		0	74	0	G			31920162	-1			no_errors	ENST00000375429	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	31920162	G	T	31920162	3	4	182	1	0	0	0	0	1	0	0	0	13233	1194	42	3	87	3	RDBP	6	31920162	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1267519	31920162	139194905	102	45278											
PKHD1	5314	genome.wustl.edu	37	chr6	51824753	51824753	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgtgacgttgtcgccatcTtgtggcagcctttcaggaaa	8	12	11	10	2	2	1	1	1	1	0	3	2	2	2	2	2	1	2	2	2	1	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:51824753T>C	ENST00000371117.3	-	36	6098	c.5823A>G	c.(5821-5823)caA>caG	p.Q1941Q	PKHD1_ENST00000340994.4_Silent_p.Q1941Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1941	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTCGCCATCTTGTGGCAGCC	0.493											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													171	151	158					6																	51824753		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5823A>G	6.37:g.51824753T>C		980	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.Q1941	ENST00000371117.3	37	c.5823	CCDS4935.1	6																																																																																			PKHD1	-	pfam_G8_domain	ENSG00000170927		0.493	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	-	0	42	0	T	NM_138694		51824753	-1	tier1	-	no_errors	ENST00000371117	ensembl	human	known	74_37	silent	24.24	50	16	SNP	1.000	C	C	51824753	T	C	51824753	2	2	182	1	0	0	0	0	0	0	0	1	12010	1606	56	4		4	PKHD1	6	51824753	Silent	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	19904591	51824753	119290314	103	45279											
COL21A1	81578	genome.wustl.edu	37	chr6	55925539	55925539	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctatatttgatacctacCtcttattacatctgtgcaaa	12	16	4	9	0	2	1	0	1	2	0	2	1	2	1	2	0	5	2	2	0	7	7			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:55925539C>A	ENST00000244728.5	-	27	2804	c.2407G>T	c.(2407-2409)Gcc>Tcc	p.A803S	COL21A1_ENST00000370819.1_Splice_Site_p.A800S|COL21A1_ENST00000535941.1_Splice_Site_p.A803S|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Splice_Site_p.G203C	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	803					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)			TGATACCTACCTCTTATTACA	0.313																																																	0													54	52	52					6																	55925539		1807	4073	5880	SO:0001630	splice_region_variant	0			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.2407+1G>T	6.37:g.55925539C>A			A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.A803S	ENST00000244728.5	37	c.2407	CCDS55025.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.727|2.727	-0.265211|-0.265211	0.05754|0.05754	.|.	.|.	ENSG00000124749|ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811|ENST00000370808	D;D;D|D	0.89123|0.99369	-2.47;-2.42;-2.47|-5.78	4.9|4.9	3.13|3.13	0.36017|0.36017	.|.	0.351400|.	0.23466|.	N|.	0.047874|.	D|D	0.97031|0.97031	0.9030|0.9030	N|N	0.24115|0.24115	0.695|0.695	0.50467|0.50467	D|D	0.999876|0.999876	B;B;B|P	0.30793|0.49253	0.19;0.043;0.295|0.921	B;B;B|P	0.27608|0.56088	0.081;0.025;0.081|0.791	D|D	0.95329|0.95329	0.8428|0.8428	9|8	.|.	.|.	.|.	.|.	8.2823|8.2823	0.31908|0.31908	0.0:0.6885:0.0:0.3115|0.0:0.6885:0.0:0.3115	.|.	803;803;160|203	B7ZLK3;Q96P44;B3KU30|Q96P44-2	.;COLA1_HUMAN;.|.	S|C	803;800;803;800|203	ENSP00000244728:A803S;ENSP00000359855:A800S;ENSP00000444384:A803S|ENSP00000359844:G203C	.|.	A|G	-|-	1|1	0|0	COL21A1|COL21A1	56033498|56033498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.081000|0.081000	0.17604|0.17604	1.084000|1.084000	0.30828|0.30828	0.595000|0.595000	0.29777|0.29777	-0.137000|-0.137000	0.14449|0.14449	GCC|GGC	COL21A1	-	NULL	ENSG00000124749		0.313	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	-	0	38	0	C		Missense_Mutation	55925539	-1	tier1	-	no_errors	ENST00000244728	ensembl	human	known	74_37	missense	18.46	53	12	SNP	1.000	A	A	55925539	C	A	55925539	5	1	182	1	0	0	0	0	0	0	1	0	3687	695	24	3	482	3	COL21A1	6	55925539	Splice_Site	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	4100786	55925539	115189528	104	45280											
LYRM2	57226	genome.wustl.edu	37	chr6	90347493	90347493	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttttgtttcttctgaattCttctcttgcccaatctttca	6	21	3	11	0	6	1	1	1	5	0	7	1	6	1	1	0	1	1	1	0	2	8			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:90347493C>G	ENST00000523377.1	-	2	190	c.154G>C	c.(154-156)Gaa>Caa	p.E52Q	LYRM2_ENST00000517396.1_5'UTR|LYRM2_ENST00000520318.1_Missense_Mutation_p.E52Q|LYRM2_ENST00000520441.1_Missense_Mutation_p.E52Q	NM_020466.4	NP_065199.1	Q9NU23	LYRM2_HUMAN	LYR motif containing 2	52						mitochondrion (GO:0005739)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		CTTCTGAATTCTTCTCTTGCC	0.373																																																	0													174	170	171					6																	90347493		2203	4300	6503	SO:0001583	missense	0			BC009782	CCDS5023.1	6q15	2006-09-19			ENSG00000083099	ENSG00000083099		"LYR motif containing"	25229	protein-coding gene	gene with protein product						12477932	Standard	NM_020466		Approved	DJ122O8.2	uc003pnm.3	Q9NU23	OTTHUMG00000015203	ENST00000523377.1:c.154G>C	6.37:g.90347493C>G	ENSP00000430025:p.Glu52Gln		B2R4U2|E1P517	Missense_Mutation	SNP	pfam_Complex1_LYR	p.E52Q	ENST00000523377.1	37	c.154	CCDS5023.1	6	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926796	0.92319	.	.	ENSG00000083099	ENST00000520441;ENST00000523377;ENST00000520318	T;T;T	0.72942	-0.7;-0.7;-0.7	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83644	0.5299	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84297	0.0503	9	0.72032	D	0.01	.	18.7558	0.91832	0.0:1.0:0.0:0.0	.	52	Q9NU23	LYRM2_HUMAN	Q	52	ENSP00000427859:E52Q;ENSP00000430025:E52Q;ENSP00000428207:E52Q	ENSP00000430316:E52Q	E	-	1	0	LYRM2	90404214	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.064000	0.76721	2.868000	0.98415	0.557000	0.71058	GAA	LYRM2	-	pfam_Complex1_LYR	ENSG00000083099		0.373	LYRM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYRM2	HGNC	protein_coding	OTTHUMT00000041498.2	-	0	80	0	C	NM_020466		90347493	-1	tier1	-	no_errors	ENST00000412237	ensembl	human	known	74_37	missense	14.94	74	13	SNP	1.000	G	G	90347493	C	G	90347493	3	3	182	1	0	0	0	0	1	0	0	0	9156	922	32	5	120	5	LYRM2	6	90347493	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	34421954	90347493	80767574	105	45281											
MDN1	23195	genome.wustl.edu	37	chr6	90503483	90503483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctactgataccaacataccaGctctccaggggctggcagct	10	8	9	14	0	1	1	0	1	1	0	2	1	1	1	3	3	6	4	3	3	4	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:90503483G>T	ENST00000369393.3	-	5	968	c.853C>A	c.(853-855)Ctg>Atg	p.L285M	MDN1_ENST00000428876.1_Missense_Mutation_p.L285M			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	285					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)		CAACATACCAGCTCTCCAGGG	0.547																																																	0													51	54	53					6																	90503483		2203	4300	6503	SO:0001583	missense	0			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.853C>A	6.37:g.90503483G>T	ENSP00000358400:p.Leu285Met		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L285M	ENST00000369393.3	37	c.853	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300326	0.23650	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.19532	3.94;3.94;2.14	5.63	4.75	0.60458	.	0.373918	0.27941	N	0.017226	T	0.04363	0.0120	N	0.08118	0	0.20638	N	0.999877	B;P	0.40553	0.343;0.721	B;B	0.39738	0.116;0.308	T	0.19976	-1.0289	10	0.34782	T	0.22	.	10.8189	0.46593	0.0:0.2657:0.5968:0.1375	.	285;285	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	M	285	ENSP00000358400:L285M;ENSP00000413970:L285M;ENSP00000409664:L285M	ENSP00000358400:L285M	L	-	1	2	MDN1	90560204	1.000000	0.71417	0.703000	0.30354	0.003000	0.03518	3.942000	0.56614	1.361000	0.45981	-0.182000	0.12963	CTG	MDN1	-	superfamily_P-loop_NTPase,pirsf_Midasin	ENSG00000112159		0.547	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	32	0	G			90503483	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	9.09	39	4	SNP	0.998	T	T	90503483	G	T	90503483	3	4	182	1	0	0	0	0	1	0	0	0	9453	962	34	3	16329	3	MDN1	6	90503483	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	155990	90503483	80611584	106	45282											
HSF2	3298	genome.wustl.edu	37	chr6	122743335	122743335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtttaaagccaagggagaGgatttcagatgacatcatta	15	10	11	5	0	2	3	2	1	0	2	2	5	2	4	1	3	1	1	1	3	4	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:122743335G>T	ENST00000368455.4	+	8	914	c.722G>T	c.(721-723)aGg>aTg	p.R241M	HSF2_ENST00000452194.1_Missense_Mutation_p.R241M	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	241					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)		CCAAGGGAGAGGATTTCAGAT	0.318																																																	0													103	107	106					6																	122743335		2203	4297	6500	SO:0001583	missense	0			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.722G>T	6.37:g.122743335G>T	ENSP00000357440:p.Arg241Met		B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.R241M	ENST00000368455.4	37	c.722	CCDS5124.1	6	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478112	0.44044	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.65	4.56	0.56223	Vertebrate heat shock transcription factor (1);	0.256244	0.32852	N	0.005576	T	0.11793	0.0287	N	0.08118	0	0.33620	D	0.604638	B;B	0.15719	0.011;0.014	B;B	0.18263	0.012;0.021	T	0.07083	-1.0791	9	0.44086	T	0.13	-5.9395	4.9711	0.14115	0.2159:0.0:0.7841:0.0	.	241;241	Q03933-2;Q03933	.;HSF2_HUMAN	M	241	.	ENSP00000357440:R241M	R	+	2	0	HSF2	122785034	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.422000	0.59854	2.827000	0.97445	0.650000	0.86243	AGG	HSF2	-	pfam_Vert_HSTF_C	ENSG00000025156		0.318	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2	HGNC	protein_coding	OTTHUMT00000043520.1		0	49	0	G	NM_004506		122743335	1			no_errors	ENST00000368455	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	122743335	G	T	122743335	3	4	182	1	0	0	0	0	1	0	0	0	7423	1000	35	3	752	3	HSF2	6	122743335	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	32239852	122743335	48371732	107	45283											
HIVEP2	3097	genome.wustl.edu	37	chr6	143091068	143091068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagcatgccaacaggcCgcttgtggcccttcccttcc	6	8	10	17	1	0	0	0	0	0	0	2	1	2	1	6	3	3	2	6	3	1	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:143091068C>A	ENST00000367604.1	-	4	5447	c.4808G>T	c.(4807-4809)cGg>cTg	p.R1603L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.R1603L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1603L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1603					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)		GCCAACAGGCCGCTTGTGGCC	0.562																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													65	71	69					6																	143091068		2114	4238	6352	SO:0001583	missense	0			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.4808G>T	6.37:g.143091068C>A	ENSP00000356576:p.Arg1603Leu		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1603L	ENST00000367604.1	37	c.4808	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	0.340	-0.951159	0.02285	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02103	4.45;4.45;4.45	5.95	0.69	0.18039	.	0.983197	0.08363	N	0.957452	T	0.00178	0.0005	N	0.00583	-1.355	0.19775	N	0.999956	B	0.02656	0.0	B	0.01281	0.0	T	0.42949	-0.9421	10	0.02654	T	1	-0.4785	1.6766	0.02823	0.5309:0.1493:0.2031:0.1167	.	1603	P31629	ZEP2_HUMAN	L	1603	ENSP00000356576:R1603L;ENSP00000356575:R1603L;ENSP00000012134:R1603L	ENSP00000012134:R1603L	R	-	2	0	HIVEP2	143132761	0.897000	0.30589	0.997000	0.53966	0.957000	0.61999	2.047000	0.41269	0.149000	0.19098	-0.274000	0.10170	CGG	HIVEP2	-	NULL	ENSG00000010818		0.562	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1		0	25	0	C			143091068	-1			no_errors	ENST00000012134	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.630	A	A	143091068	C	A	143091068	3	1	182	1	0	0	0	0	1	0	0	0	7214	652	23	2	2556	2	HIVEP2	6	143091068	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	20347733	143091068	28023999	108	45284											
UTRN	7402	genome.wustl.edu	37	chr6	144814581	144814581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggttctttacaatgacCtgggcgcacaggtgaggaga	11	9	14	7	1	1	4	0	3	1	1	1	5	1	4	1	4	1	2	1	4	3	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr6:144814581C>T	ENST00000367545.3	+	32	4582	c.4582C>T	c.(4582-4584)Ctg>Ttg	p.L1528L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1528	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)		TTACAATGACCTGGGCGCACA	0.478																																																	0																																										SO:0001819	synonymous_variant	0			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.4582C>T	6.37:g.144814581C>T			Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L1528	ENST00000367545.3	37	c.4582	CCDS34547.1	6																																																																																			UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.478	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	-	0	19	0	C			144814581	1	tier1	-	no_errors	ENST00000367545	ensembl	human	known	74_37	silent	18.52	22	5	SNP	1.000	T	T	144814581	C	T	144814581	2	4	182	1	0	0	0	0	0	0	0	1	17152	680	24	3		3	UTRN	6	144814581	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	1723513	144814581	26300486	109	45285											
KIAA0895	23366	genome.wustl.edu	37	chr7	36373465	36373465	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagttaagggacacccacCtggttgggaagtatcagtcc	11	9	12	9	0	1	1	1	0	0	1	2	3	2	3	3	3	0	3	3	3	4	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr7:36373465C>A	ENST00000297063.6	-	5	1356	c.1306G>T	c.(1306-1308)Ggg>Tgg	p.G436W	KIAA0895_ENST00000436884.1_Splice_Site_p.G333W|KIAA0895_ENST00000453212.1_Splice_Site_p.G191W|KIAA0895_ENST00000440378.1_Splice_Site_p.G433W|KIAA0895_ENST00000317020.6_Splice_Site_p.G385W|KIAA0895_ENST00000338533.5_Splice_Site_p.G423W|KIAA0895_ENST00000480192.1_5'UTR	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	436										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGACACCCACCTGGTTGGGAA	0.403																																																	0													77	78	78					7																	36373465		1889	4117	6006	SO:0001630	splice_region_variant	0			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1306+1G>T	7.37:g.36373465C>A			B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	pfam_DUF1704	p.G436W	ENST00000297063.6	37	c.1306	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761507	0.89932	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.995;0.996;0.996	T	0.81684	-0.0821	9	0.87932	D	0	-7.7734	18.7786	0.91922	0.0:1.0:0.0:0.0	.	433;333;436;423;385	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	W	436;423;385;433;333;191	.	ENSP00000297063:G436W	G	-	1	0	KIAA0895	36339990	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.357000	0.79456	2.515000	0.84797	0.655000	0.94253	GGG	KIAA0895	-	pfam_DUF1704	ENSG00000164542		0.403	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	HGNC	protein_coding	OTTHUMT00000337717.1	-	0	58	0	C	NM_015314	Missense_Mutation	36373465	-1	tier1	-	no_errors	ENST00000297063	ensembl	human	known	74_37	missense	75.51	12	37	SNP	1.000	A	A	36373465	C	A	36373465	5	1	182	1	0	0	0	0	0	0	1	0	8224	695	24	3	268	3	KIAA0895	7	36373465	Splice_Site	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09		36373465	122765198	110	45286											
DTX2	113878	genome.wustl.edu	37	chr7	76129758	76129758	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatgtacttctctcttctagGagcgaccccgaagccagagc	9	10	9	13	2	3	1	0	0	3	1	4	4	3	2	3	1	4	1	3	1	4	5	rs147644708		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr7:76129758G>A	ENST00000324432.5	+	8	1661	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	DTX2_ENST00000307569.8_Splice_Site_p.G337E|DTX2_ENST00000430490.2_Splice_Site_p.G384E|DTX2_ENST00000446600.1_Splice_Site_p.G293E|DTX2_ENST00000446820.2_Splice_Site_p.G337E|DTX2_ENST00000413936.2_Splice_Site_p.G384E	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	384			G -> E (in dbSNP:rs1638152). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:12670957, ECO:0000269|PubMed:15489334}.		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						TCTCTTCTAGGAGCGACCCCG	0.567																																																	0													2	3	3					7																	76129758		1198	3039	4237	SO:0001630	splice_region_variant	0				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.1151-1G>A	7.37:g.76129758G>A			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.G384E	ENST00000324432.5	37	c.1151	CCDS5587.1	7	.	.	.	.	.	.	.	.	.	.	.	9.359	1.067449	0.20067	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.11821	2.84;2.74;2.84;2.84;2.84;2.74	4.31	2.26	0.28386	.	0.555878	0.18661	N	0.134738	T	0.18002	0.0432	L	0.29908	0.895	0.36128	P	0.15403599999999995	B;D;D;B	0.89917	0.009;0.986;1.0;0.003	B;P;D;B	0.77557	0.009;0.796;0.99;0.004	T	0.18461	-1.0336	9	0.20046	T	0.44	.	5.3155	0.15852	0.1218:0.3006:0.5776:0.0	.	293;15;337;384	F5GX89;Q6P2H0;Q86UW9-2;Q86UW9	.;.;.;DTX2_HUMAN	E	384;337;293;293;384;384;337	ENSP00000322885:G384E;ENSP00000305242:G337E;ENSP00000397648:G293E;ENSP00000390218:G384E;ENSP00000411986:G384E;ENSP00000392545:G337E	ENSP00000305242:G337E	G	+	2	0	AC005522.1	75967694	0.730000	0.28100	0.990000	0.47175	0.470000	0.32858	1.148000	0.31614	1.091000	0.41335	0.655000	0.94253	GGA	DTX2	-	NULL	ENSG00000091073		0.567	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2	-	0	29	0	G		Missense_Mutation	76129758	1	tier1	rs147644708	no_errors	ENST00000324432	ensembl	human	known	74_37	missense	29.41	12	5	SNP	0.938	A	A	76129758	G	A	76129758	5	1	182	1	0	0	0	0	0	0	1	0	4808	1188	41	3	1169	3	DTX2	7	76129758	Splice_Site	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	39756293	76129758	83008905	111	45287											
PCLO	27445	genome.wustl.edu	37	chr7	82545336	82545336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttatccgtagaaacaggtGctatcataaggggttggttg	10	13	13	5	1	1	1	1	0	0	1	2	1	2	1	1	4	2	5	1	4	5	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr7:82545336G>T	ENST00000333891.9	-	7	12303	c.11966C>A	c.(11965-11967)gCa>gAa	p.A3989E	PCLO_ENST00000437081.1_Missense_Mutation_p.A709E|PCLO_ENST00000423517.2_Missense_Mutation_p.A3989E	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						AGAAACAGGTGCTATCATAAG	0.403																																																	0													390	368	375					7																	82545336		1930	4136	6066	SO:0001583	missense	0			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.11966C>A	7.37:g.82545336G>T	ENSP00000334319:p.Ala3989Glu			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.A3989E	ENST00000333891.9	37	c.11966	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069489	0.55539	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.20200	2.09;2.09	5.85	5.85	0.93711	.	.	.	.	.	T	0.47266	0.1436	M	0.61703	1.905	0.51482	D	0.999925	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74674	0.915;0.984;0.984	T	0.35025	-0.9805	9	0.87932	D	0	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	3920;3989;3989	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	E	3989;3989;709	ENSP00000334319:A3989E;ENSP00000388393:A3989E	ENSP00000334319:A3989E	A	-	2	0	PCLO	82383272	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.125000	0.57931	2.767000	0.95098	0.563000	0.77884	GCA	PCLO	-	NULL	ENSG00000186472		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	48	0	G	NM_014510		82545336	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	82545336	G	T	82545336	3	4	182	1	0	0	0	0	1	0	0	0	11622	1319	46	3	3555	3	PCLO	7	82545336	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	6415578	82545336	76593327	112	45288											
KIAA1324L	222223	genome.wustl.edu	37	chr7	86569422	86569422	+	Nonsense_Mutation	SNP	T	T	A	0	1	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	gagtatgtttgtgcctgattTcagcattacctataaagaga	12	14	9	6	0	1	2	1	1	0	1	1	4	1	2	2	0	3	3	2	0	5	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr7:86569422T>A	ENST00000450689.2	-	6	936	c.751A>T	c.(751-753)Aaa>Taa	p.K251*	KIAA1324L_ENST00000297222.6_Nonsense_Mutation_p.K11*|KIAA1324L_ENST00000444627.1_Nonsense_Mutation_p.K251*|KIAA1324L_ENST00000416314.1_Nonsense_Mutation_p.K84*	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	251						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)					GTGCCTGATTTCAGCATTACC	0.388																																																	0													142	131	135					7																	86569422		2203	4300	6503	SO:0001587	stop_gained	0			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.751A>T	7.37:g.86569422T>A	ENSP00000413445:p.Lys251*		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Nonsense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.K251*	ENST00000450689.2	37	c.751	CCDS47632.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	40|40	8.257212|8.257212	0.98729|0.98729	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.38214|.	0.1032|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35525|.	-0.9785|.	3|.	.|0.02654	.|T	.|1	.|.	15.5086|15.5086	0.75760|0.75760	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	V|X	211|251;11;251;84	.|.	.|ENSP00000297222:K11X	E|K	-|-	2|1	0|0	KIAA1324L|KIAA1324L	86407358|86407358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	5.130000|5.130000	0.64745|0.64745	2.266000|2.266000	0.75297|0.75297	0.528000|0.528000	0.53228|0.53228	GAA|AAA	KIAA1324L	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000164659		0.388	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	-	0	47	0	T	NM_152748		86569422	-1	tier1	-	no_errors	ENST00000450689	ensembl	human	known	74_37	nonsense	63.75	29	51	SNP	1.000	A	A	86569422	T	A	86569422	4	1	182	1	0	0	0	0	0	1	0	0	8251	1792	62	5	2406	5	KIAA1324L	7	86569422	Nonsense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	4024086	86569422	72569241	113	45289											
ZNF804B	219578	genome.wustl.edu	37	chr7	88962859	88962859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtccaccatgccaaatcGacaccaattacaatcagaca	15	6	6	14	2	1	1	1	0	0	1	3	2	2	1	4	1	2	0	4	1	4	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr7:88962859G>T	ENST00000333190.4	+	4	1172	c.563G>T	c.(562-564)cGa>cTa	p.R188L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	188							metal ion binding (GO:0046872)	p.R188L(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATGCCAAATCGACACCAATTA	0.413										HNSCC(36;0.09)																																							1	Substitution - Missense(1)	large_intestine(1)											113	109	111					7																	88962859		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.563G>T	7.37:g.88962859G>T	ENSP00000329638:p.Arg188Leu		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.R188L	ENST00000333190.4	37	c.563	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289724	0.40494	.	.	ENSG00000182348	ENST00000333190	T	0.05786	3.39	5.3	3.52	0.40303	.	0.129990	0.33938	N	0.004408	T	0.07458	0.0188	N	0.20401	0.57	0.27292	N	0.957828	D	0.64830	0.994	P	0.52672	0.706	T	0.22906	-1.0203	10	0.30078	T	0.28	-4.2873	10.2287	0.43243	0.2125:0.0:0.7875:0.0	.	188	A4D1E1	Z804B_HUMAN	L	188	ENSP00000329638:R188L	ENSP00000329638:R188L	R	+	2	0	ZNF804B	88800795	0.069000	0.21087	0.946000	0.38457	0.970000	0.65996	0.823000	0.27366	0.837000	0.34925	0.650000	0.86243	CGA	ZNF804B	-	NULL	ENSG00000182348		0.413	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2		0	30	0	G	NM_181646		88962859	1			no_errors	ENST00000333190	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.640	T	T	88962859	G	T	88962859	3	4	182	1	0	0	0	0	1	0	0	0	18219	1058	37	2	577	2	ZNF804B	7	88962859	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	2393437	88962859	70175804	114	45290											
CYP51A1	1595	genome.wustl.edu	37	chr7	91743159	91743160	+	Splice_Site	INS	-	-	A																															caatacaacgatgacgccctINSaaaaaaaagaaaaagttata																										TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr7:91743159_91743160insA	ENST00000003100.8	-	10	1517		c.e10-2		LRRD1_ENST00000422722.1_Splice_Site|CYP51A1_ENST00000450723.1_Splice_Site	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1						cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	GATGACGCCCTAAAAAAAAGAA	0.317																																					GBM(70;1100 1190 11592 25836 51397)												0																																										SO:0001630	splice_region_variant	0			U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"Cytochrome P450s"	2649	protein-coding gene	gene with protein product		601637	"cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1352-2->T	7.37:g.91743167_91743167dupA			A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Splice_Site	INS	-	e10-2	ENST00000003100.8	37	c.1352-3_1352-2	CCDS5623.1	7																																																																																			CYP51A1	-	-	ENSG00000001630		0.317	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP51A1	HGNC	protein_coding	OTTHUMT00000253812.4		0	20	0	-		Intron	91743160	-1	tier1		no_errors	ENST00000003100	ensembl	human	known	74_37	splice_site_ins	7.14	26	2	INS	0.998:0.001	A	A	91743160	-	A	91743159	8	5	182	1	0	1	1	0	0	0	1	0	4204	1536	53	0	183	0	CYP51A1	7	91743159	Splice_Site	INS	-	TCGA-Z6-A8JE-01A-11D-A37C-09	2780300	91743159	67395504	115	45291											
ZCWPW1	55063	genome.wustl.edu	37	chr7	100004374	100004374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttagcatgttgactgggatCcatgcacgagaaactgtttc	10	13	10	8	1	0	2	0	1	0	1	2	4	1	3	1	1	3	4	1	1	2	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr7:100004374C>A	ENST00000398027.2	-	12	1360	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.W372C|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.W251C|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.W251C	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	371	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGACTGGGATCCATGCACGAG	0.448																																																	0													125	129	128					7																	100004374		1913	4137	6050	SO:0001583	missense	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1113G>T	7.37:g.100004374C>A	ENSP00000381109:p.Trp371Cys		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW	p.W371C	ENST00000398027.2	37	c.1113	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801948	0.70682	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000471336;ENST00000379559	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.6	5.6	0.85130	PWWP (2);	0.279059	0.26380	N	0.024713	D	0.89594	0.6760	M	0.89095	3.005	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	D	0.90797	0.4691	9	.	.	.	-6.191	15.107	0.72329	0.0:1.0:0.0:0.0	.	372;332;374;371;251	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	C	371;251;372;251;121;374	ENSP00000381109:W371C;ENSP00000419187:W251C;ENSP00000354210:W372C;ENSP00000314880:W251C;ENSP00000418351:W121C	.	W	-	3	0	ZCWPW1	99842310	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.333000	0.59285	2.615000	0.88500	0.655000	0.94253	TGG	ZCWPW1	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000078487		0.448	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	-	0	39	0	C	NM_017984		100004374	-1	tier1	-	no_errors	ENST00000398027	ensembl	human	known	74_37	missense	72.00	7	18	SNP	1.000	A	A	100004374	C	A	100004374	3	1	182	1	0	0	0	0	1	0	0	0	17645	856	30	3	861	3	ZCWPW1	7	100004374	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	8261215	100004374	59134289	116	45292											
C7orf51	222950	genome.wustl.edu	37	chr7	100086030	100086030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtctttaggggaggaggacGaagtggaggaggcctggctg	8	7	20	6	2	1	0	0	0	1	0	1	6	1	5	1	8	0	1	1	8	2	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr7:100086030G>A	ENST00000300179.2	+	4	845	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	NYAP1_ENST00000454988.1_Missense_Mutation_p.R172Q|NYAP1_ENST00000423930.1_Missense_Mutation_p.R229Q	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	229					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGAGGAGGACGAAGTGGAGGA	0.647																																																	0																																										SO:0001583	missense	0			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.686G>A	7.37:g.100086030G>A	ENSP00000300179:p.Arg229Gln		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	NULL	p.R229Q	ENST00000300179.2	37	c.686	CCDS5696.1	7	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261035	0.59431	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.41065	1.01;1.01;1.01	5.14	4.26	0.50523	.	0.349980	0.20559	N	0.089943	T	0.20820	0.0501	N	0.08118	0	0.37210	D	0.904782	B;B	0.33198	0.229;0.401	B;B	0.26693	0.033;0.072	T	0.16837	-1.0389	10	0.44086	T	0.13	-3.4947	9.659	0.39943	0.0972:0.0:0.9028:0.0	.	172;229	C9JS30;Q6ZVC0	.;CG051_HUMAN	Q	229;229;172	ENSP00000300179:R229Q;ENSP00000411861:R229Q;ENSP00000394424:R172Q	ENSP00000300179:R229Q	R	+	2	0	C7orf51	99923966	0.993000	0.37304	0.998000	0.56505	0.967000	0.64934	1.560000	0.36331	1.177000	0.42855	0.407000	0.27541	CGA	NYAP1	-	NULL	ENSG00000166924		0.647	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NYAP1	HGNC	protein_coding	OTTHUMT00000339335.2		0	27	0	G	NM_173564		100086030	1			no_errors	ENST00000423930	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.999	A	A	100086030	G	A	100086030	3	1	182	1	0	0	0	0	1	0	0	0	2407	1058	37	1	696	1	C7orf51	7	100086030	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	81656	100086030	59052633	117	45293											
MLL5	55904	genome.wustl.edu	37	chr7	104730616	104730616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaagatacacaaaatCagaatattactttggattgt	20	11	6	4	0	1	3	1	0	0	3	1	4	1	4	0	1	2	0	0	1	9	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr7:104730616C>A	ENST00000311117.3	+	14	2064	c.1519C>A	c.(1519-1521)Cag>Aag	p.Q507K	KMT2E_ENST00000257745.4_Missense_Mutation_p.Q507K|KMT2E_ENST00000476671.1_Missense_Mutation_p.Q507K|KMT2E_ENST00000334877.4_Missense_Mutation_p.Q507K|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	507					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)										TACACAAAATCAGAATATTAC	0.323																																																	0													66	74	71					7																	104730616		2203	4300	6503	SO:0001583	missense	0			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.1519C>A	7.37:g.104730616C>A	ENSP00000312379:p.Gln507Lys		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.Q507K	ENST00000311117.3	37	c.1519	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267554	0.80469	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000257745;ENST00000476671	D;D;D;D	0.93659	-2.94;-2.55;-2.94;-3.26	5.83	5.83	0.93111	.	0.115050	0.64402	D	0.000009	D	0.96473	0.8849	M	0.74258	2.255	0.80722	D	1	D;D	0.63880	0.993;0.982	D;D	0.70227	0.952;0.968	D	0.94998	0.8140	10	0.34782	T	0.22	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	507;507	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	K	507	ENSP00000312379:Q507K;ENSP00000335599:Q507K;ENSP00000257745:Q507K;ENSP00000417888:Q507K	ENSP00000257745:Q507K	Q	+	1	0	MLL5	104517852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.770000	0.95276	0.655000	0.94253	CAG	KMT2E	-	NULL	ENSG00000005483		0.323	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1	-	0	50	0	C			104730616	1	tier1	-	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	A	A	104730616	C	A	104730616	3	1	182	1	0	0	0	0	1	0	0	0	9662	827	29	3	1565	3	MLL5	7	104730616	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	4644586	104730616	54408047	118	45294											
TNPO3	23534	genome.wustl.edu	37	chr7	128615974	128615974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaatgctgatgtacgtGgtacacattcaccatctgtt	10	12	10	9	1	2	1	1	1	1	0	2	2	2	2	1	2	3	5	1	2	3	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr7:128615974G>A	ENST00000265388.5	-	17	2220	c.2077C>T	c.(2077-2079)Cac>Tac	p.H693Y	TNPO3_ENST00000393245.1_Missense_Mutation_p.H727Y|TNPO3_ENST00000482320.1_Missense_Mutation_p.H627Y|TNPO3_ENST00000471166.1_Missense_Mutation_p.H727Y|TNPO3_ENST00000471234.1_Missense_Mutation_p.H629Y			Q9Y5L0	TNPO3_HUMAN	transportin 3	693					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						TGATGTACGTGGTACACATTC	0.453																																					Pancreas(147;583 2585 39696 52331)												0													150	122	132					7																	128615974		2203	4300	6503	SO:0001583	missense	0			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.2077C>T	7.37:g.128615974G>A	ENSP00000265388:p.His693Tyr		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.H727Y	ENST00000265388.5	37	c.2179	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445286	0.63178	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	.	.	.	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.265315	0.44483	D	0.000448	T	0.45816	0.1361	N	0.14661	0.345	0.58432	D	0.999996	B;B;B;B	0.21688	0.019;0.059;0.057;0.01	B;B;B;B	0.24701	0.011;0.055;0.013;0.006	T	0.40156	-0.9578	9	0.62326	D	0.03	-9.0745	17.7253	0.88363	0.0:0.0:1.0:0.0	.	629;727;693;693	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	Y	727;693;627;629;727	.	ENSP00000265388:H693Y	H	-	1	0	TNPO3	128403210	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.825000	0.86693	2.789000	0.95967	0.591000	0.81541	CAC	TNPO3	-	superfamily_ARM-type_fold	ENSG00000064419		0.453	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	-	0	29	0	G	NM_012470		128615974	-1	tier1	-	no_errors	ENST00000393245	ensembl	human	known	74_37	missense	70.27	10	26	SNP	1.000	A	A	128615974	G	A	128615974	3	1	182	1	0	0	0	0	1	0	0	0	16384	1348	47	3	718	3	TNPO3	7	128615974	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	23885358	128615974	30522689	119	45295											
PRSS1	5644	genome.wustl.edu	37	chr7	142460779	142460779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagttgtctcctggggtGatggctgtgcccagaagaac	9	9	15	8	0	1	3	0	1	1	2	2	4	1	4	2	4	2	2	2	4	3	1	rs574391339		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	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	5008	,	,		16476	0.001		0	False		,,,				2504	0																0													81	82	82					7																	142460779		2203	4300	6503	SO:0001583	missense	0			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	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.D218Y	ENST00000311737.7	37	c.652	CCDS5872.1	7	.	.	.	.	.	.	.	.	.	.	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	PRSS1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000204983		0.522	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	HGNC	protein_coding	OTTHUMT00000352538.2		0	73	0	G			142460779	1			no_errors	ENST00000311737	ensembl	human	known	74_37	missense	8.45	65	6	SNP	0.978	T	T	142460779	G	T	142460779	3	4	182	1	0	0	0	0	1	0	0	0	12656	1290	45	3	670	3	PRSS1	7	142460779	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	13844805	142460779	16677884	120	45296											
OR2A5	393046	genome.wustl.edu	37	chr7	143748358	143748358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacccgatgctgaaccccttGatctatagcctgaggaacgc	11	8	9	13	2	1	3	0	3	1	0	1	5	1	4	4	1	5	1	4	1	5	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr7:143748358G>C	ENST00000408906.2	+	1	898	c.864G>C	c.(862-864)ttG>ttC	p.L288F		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	288						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)					TGAACCCCTTGATCTATAGCC	0.527																																																	0													109	106	107					7																	143748358		1962	4170	6132	SO:0001583	missense	0			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.864G>C	7.37:g.143748358G>C	ENSP00000386208:p.Leu288Phe		B9EGX2|O43885|O43888	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L288F	ENST00000408906.2	37	c.864	CCDS43668.1	7	.	.	.	.	.	.	.	.	.	.	G	7.407	0.633950	0.14322	.	.	ENSG00000221836	ENST00000408906	T	0.38887	1.11	5.37	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.000000	0.26450	U	0.024303	T	0.36193	0.0958	L	0.41356	1.27	0.31605	N	0.652205	B	0.28082	0.2	B	0.33620	0.167	T	0.45071	-0.9286	10	0.66056	D	0.02	.	12.3971	0.55391	0.0:0.6107:0.2654:0.1239	.	288	Q96R48	OR2A5_HUMAN	F	288	ENSP00000386208:L288F	ENSP00000386208:L288F	L	+	3	2	OR2A5	143379291	0.204000	0.23447	0.988000	0.46212	0.221000	0.24807	-0.367000	0.07553	0.034000	0.15491	-0.181000	0.13052	TTG	OR2A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000221836		0.527	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A5	HGNC	protein_coding	OTTHUMT00000349986.1	-	0	62	0	G			143748358	1	tier1	-	no_errors	ENST00000408906	ensembl	human	known	74_37	missense	64.71	24	44	SNP	0.880	C	C	143748358	G	C	143748358	3	2	182	1	0	0	0	0	1	0	0	0	11020	1281	45	5	866	5	OR2A5	7	143748358	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1287579	143748358	15390305	121	45297											
RP1L1	94137	genome.wustl.edu	37	chr8	10464935	10464935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggggtctctacgccttctgGctctggctgggcctcctctt	1	13	12	15	2	4	0	0	0	4	0	6	0	5	0	3	5	1	2	3	5	1	3	rs575814754		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:10464935G>A	ENST00000382483.3	-	4	6896	c.6673C>T	c.(6673-6675)Cca>Tca	p.P2225S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2305	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACGCCTTCTGGCTCTGGCTGG	0.602													G|||	1	0.000199681	0	0	5008	,	,		17396	0.001		0	False		,,,				2504	0																0													107	115	112					8																	10464935		1900	4106	6006	SO:0001583	missense	0			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.6673C>T	8.37:g.10464935G>A	ENSP00000371923:p.Pro2225Ser		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.P2225S	ENST00000382483.3	37	c.6673	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.762636	0.00651	.	.	ENSG00000183638	ENST00000382483	T	0.06768	3.26	0.458	-0.916	0.10489	.	.	.	.	.	T	0.02929	0.0087	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45614	-0.9249	8	0.23302	T	0.38	.	.	.	.	.	2225	A6NKC6	.	S	2225	ENSP00000371923:P2225S	ENSP00000371923:P2225S	P	-	1	0	RP1L1	10502345	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.990000	0.03732	-0.455000	0.07054	-0.475000	0.04921	CCA	RP1L1	-	NULL	ENSG00000183638		0.602	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	72	0	G			10464935	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	23.53	39	12	SNP	0.001	A	A	10464935	G	A	10464935	3	1	182	1	0	0	0	0	1	0	0	0	13578	1203	42	3	533	3	RP1L1	8	10464935	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		10464935	135899087	122	45298			1	50		4	3	41	N	T_G_C_A	6.517117e-08
RP1L1	94137	genome.wustl.edu	37	chr8	10464952	10464952	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctggctctggctgggcctccTcttcagcctccggggcctct	1	11	12	17	1	4	0	1	0	3	0	6	0	6	0	5	5	1	2	5	5	0	1	rs544346924	byFrequency	TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:10464952T>C	ENST00000382483.3	-	4	6879	c.6656A>G	c.(6655-6657)gAg>gGg	p.E2219G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2299	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGGCCTCCTCTTCAGCCTC	0.617													T|||	2	0.000399361	0	0	5008	,	,		17118	0.001		0.001	False		,,,				2504	0																0													114	122	120					8																	10464952		1897	4102	5999	SO:0001583	missense	0			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.6656A>G	8.37:g.10464952T>C	ENSP00000371923:p.Glu2219Gly		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E2219G	ENST00000382483.3	37	c.6656	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	T	0.076	-1.191890	0.01607	.	.	ENSG00000183638	ENST00000382483	T	0.07688	3.17	2.42	-4.85	0.03142	.	.	.	.	.	T	0.02533	0.0077	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26326	-1.0106	9	0.24483	T	0.36	.	3.2653	0.06863	0.0982:0.4026:0.2533:0.2459	.	2219	A6NKC6	.	G	2219	ENSP00000371923:E2219G	ENSP00000371923:E2219G	E	-	2	0	RP1L1	10502362	0.019000	0.18553	0.000000	0.03702	0.020000	0.10135	1.073000	0.30691	-4.264000	0.00060	-1.831000	0.00592	GAG	RP1L1	-	NULL	ENSG00000183638		0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	80	0	T			10464952	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.000	C	C	10464952	T	C	10464952	3	2	182	1	0	0	0	0	1	0	0	0	13578	1551	54	4	550	4	RP1L1	8	10464952	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	17	10464952	135899070	123	45299			1	50		4	3	41	N	T_G_C_A	6.517117e-08
RP1L1	94137	genome.wustl.edu	37	chr8	10464968	10464968	+	Missense_Mutation	SNP	C	C	T																															ctcctcttcagcctccggggCctctacaccttctaactctg																								rs532233178		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:10464968C>T	ENST00000382483.3	-	4	6863	c.6640G>A	c.(6640-6642)Gcc>Acc	p.A2214T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2294	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCCGGGGCCTCTACACCT	0.632													C|||	1	0.000199681	0	0	5008	,	,		16741	0.001		0	False		,,,				2504	0																0													124	136	132					8																	10464968		1895	4102	5997	SO:0001583	missense	0			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.6640G>A	8.37:g.10464968C>T	ENSP00000371923:p.Ala2214Thr		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.A2214T	ENST00000382483.3	37	c.6640	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	8.918	0.960434	0.18583	.	.	ENSG00000183638	ENST00000382483	T	0.08008	3.14	2.48	0.373	0.16178	.	.	.	.	.	T	0.03651	0.0104	N	0.17082	0.46	0.09310	N	1	B	0.26081	0.141	B	0.18263	0.021	T	0.45833	-0.9234	9	0.14656	T	0.56	-2.2868	2.1959	0.03911	0.1966:0.4899:0.1924:0.121	.	2214	A6NKC6	.	T	2214	ENSP00000371923:A2214T	ENSP00000371923:A2214T	A	-	1	0	RP1L1	10502378	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.162000	0.03141	-0.089000	0.12484	0.430000	0.28490	GCC	RP1L1	-	NULL	ENSG00000183638		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	89	0	C			10464968	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.000	T	T	10464968	C	T	10464968	3	4	182	1	0	0	0	0	1	0	0	0	13578	739	26	3	566	3	RP1L1	8	10464968	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	16	10464968	135899054	124	45300	157	2	1	50		4	3	41	N	T_G_C_A	6.517117e-08
RP1L1	94137	genome.wustl.edu	37	chr8	10464975	10464975	+	Silent	SNP	A	A	G																															tcagcctccggggcctctacAccttctaactctggttgggc																										TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:10464975A>G	ENST00000382483.3	-	4	6856	c.6633T>C	c.(6631-6633)ggT>ggC	p.G2211G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2291	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGCCTCTACACCTTCTAACT	0.627																																																	0													131	142	139					8																	10464975		1892	4101	5993	SO:0001819	synonymous_variant	0			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.6633T>C	8.37:g.10464975A>G			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G2211	ENST00000382483.3	37	c.6633	CCDS43708.1	8																																																																																			RP1L1	-	NULL	ENSG00000183638		0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	84	0	A			10464975	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	silent	18.97	46	11	SNP	0.000	G	G	10464975	A	G	10464975	2	3	182	1	0	0	0	0	0	0	0	1	13578	146	6	4		4	RP1L1	8	10464975	Silent	SNP	A	TCGA-Z6-A8JE-01A-11D-A37C-09	7	10464975	135899047	125	45301	157	2	1	50		4	3	41	N	T_G_C_A	6.517117e-08
HTRA4	203100	genome.wustl.edu	37	chr8	38831859	38831859	+	Missense_Mutation	SNP	T	T	C	0	1	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	gctgctgctcctggtgcccgTcctctgggccggggctgaaa	3	9	15	14	2	1	1	0	1	1	0	3	1	3	1	4	4	3	4	4	4	1	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:38831859T>C	ENST00000302495.4	+	1	177	c.77T>C	c.(76-78)gTc>gCc	p.V26A	CTD-2544N14.3_ENST00000520863.1_RNA	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	26					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTGGTGCCCGTCCTCTGGGCC	0.706																																																	0													21	21	21					8																	38831859		2200	4296	6496	SO:0001583	missense	0			AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.77T>C	8.37:g.38831859T>C	ENSP00000305919:p.Val26Ala		Q542Z4|Q6PF13	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.V26A	ENST00000302495.4	37	c.77	CCDS6110.1	8	.	.	.	.	.	.	.	.	.	.	T	5.050	0.194903	0.09599	.	.	ENSG00000169495	ENST00000302495	D	0.84298	-1.83	3.71	-3.66	0.04489	.	1.719510	0.03617	N	0.235759	T	0.70150	0.3191	N	0.17312	0.475	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.53351	-0.8451	10	0.54805	T	0.06	-0.078	1.3068	0.02090	0.1299:0.1844:0.1931:0.4926	.	26	P83105	HTRA4_HUMAN	A	26	ENSP00000305919:V26A	ENSP00000305919:V26A	V	+	2	0	HTRA4	38951016	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.011000	0.12721	-1.023000	0.03342	-0.912000	0.02778	GTC	HTRA4	-	NULL	ENSG00000169495		0.706	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA4	HGNC	protein_coding	OTTHUMT00000377077.1	-	0	43	0	T	NM_153692		38831859	1	tier1	-	no_errors	ENST00000302495	ensembl	human	known	74_37	missense	47.89	37	34	SNP	0.000	C	C	38831859	T	C	38831859	3	2	182	1	0	0	0	0	1	0	0	0	7483	1667	58	4	79	4	HTRA4	8	38831859	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	28366884	38831859	107532163	126	45302											
ANK1	286	genome.wustl.edu	37	chr8	41566347	41566347	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagcagcagagccaccatCtctgcgtggccctcctgggc	7	6	13	15	1	1	2	0	0	1	2	3	3	2	2	4	2	4	2	4	2	0	0	rs375243297		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:41566347C>T	ENST00000347528.4	-	17	2030	c.1947G>A	c.(1945-1947)gaG>gaA	p.E649E	ANK1_ENST00000396942.1_Silent_p.E649E|ANK1_ENST00000265709.8_Silent_p.E682E|ANK1_ENST00000396945.1_Silent_p.E649E|ANK1_ENST00000289734.7_Silent_p.E649E|ANK1_ENST00000379758.2_Silent_p.E649E|ANK1_ENST00000352337.4_Silent_p.E649E	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	649	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAGCCACCATCTCTGCGTGGC	0.612																																																	0								C	,,,,	0,4406		0,0,2203	127	113	118		1947,2046,1947,1947,1947	-4.9	0.8	8		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	649/1881,682/1898,649/1857,649/1882,649/1720	41566347	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1947G>A	8.37:g.41566347C>T			A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.E649	ENST00000347528.4	37	c.1947	CCDS6119.1	8																																																																																			ANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000029534		0.612	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	-	0	39	0	C	NM_020475		41566347	-1	tier1	-	no_errors	ENST00000396942	ensembl	human	known	74_37	silent	27.66	34	13	SNP	0.937	T	T	41566347	C	T	41566347	2	4	182	1	0	0	0	0	0	0	0	1	620	912	32	3		3	ANK1	8	41566347	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	2734488	41566347	104797675	127	45303											
NKAIN3	286183	genome.wustl.edu	37	chr8	63492202	63492202	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcatattgggtttgtttggGaccattcagtacagacctcg	8	14	11	8	1	2	1	2	0	0	1	3	2	2	2	2	2	1	3	2	2	2	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:63492202G>T	ENST00000523211.1	+	2	291	c.159G>T	c.(157-159)ggG>ggT	p.G53G	NKAIN3_ENST00000328472.5_Silent_p.G53G|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	53						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)				GTTTGTTTGGGACCATTCAGT	0.333																																																	0													155	145	148					8																	63492202		1812	4079	5891	SO:0001819	synonymous_variant	0			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.159G>T	8.37:g.63492202G>T				Silent	SNP	pfam_Na/K-Atpase_Interacting	p.G53	ENST00000523211.1	37	c.159	CCDS55239.1	8																																																																																			NKAIN3	-	pfam_Na/K-Atpase_Interacting	ENSG00000185942		0.333	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN3	HGNC	protein_coding	OTTHUMT00000378447.2	-	0	45	0	G	NM_173688		63492202	1	tier1	-	no_errors	ENST00000328472	ensembl	human	known	74_37	silent	5.21	91	5	SNP	1.000	T	T	63492202	G	T	63492202	2	4	182	1	0	0	0	0	0	0	0	1	10476	1161	41	3		3	NKAIN3	8	63492202	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	21925855	63492202	82871820	128	45304											
KCNQ3	3786	genome.wustl.edu	37	chr8	133141661	133141661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccctcatccagctcgaccCcccattggggccgaacacat	8	7	7	19	2	1	0	1	0	0	0	4	2	3	0	6	2	2	1	6	2	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:133141661C>A	ENST00000388996.4	-	15	2887	c.2467G>T	c.(2467-2469)Ggg>Tgg	p.G823W	KCNQ3_ENST00000521134.1_Missense_Mutation_p.G703W|KCNQ3_ENST00000519445.1_Missense_Mutation_p.G811W	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	823					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)	CAGCTCGACCCCCCATTGGGG	0.612																																																	0													64	57	60					8																	133141661		2203	4300	6503	SO:0001583	missense	0			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.2467G>T	8.37:g.133141661C>A	ENSP00000373648:p.Gly823Trp		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.G823W	ENST00000388996.4	37	c.2467	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851366	0.51270	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	T;T;T	0.48522	0.81;0.81;0.81	5.63	5.63	0.86233	.	10.601200	0.00597	N	0.000370	T	0.65354	0.2683	N	0.22421	0.69	0.48830	D	0.999716	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.52139	-0.8615	10	0.72032	D	0.01	-18.274	18.678	0.91535	0.0:1.0:0.0:0.0	.	811;823	E7ET42;O43525	.;KCNQ3_HUMAN	W	823;703;811;800;702	ENSP00000373648:G823W;ENSP00000429799:G703W;ENSP00000428790:G811W	ENSP00000373648:G823W	G	-	1	0	KCNQ3	133210843	0.941000	0.31946	0.949000	0.38748	0.516000	0.34256	3.510000	0.53393	2.669000	0.90835	0.655000	0.94253	GGG	KCNQ3	-	pfam_Ankyrin-G_BS	ENSG00000184156		0.612	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	27	0	C	NM_004519		133141661	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	A	A	133141661	C	A	133141661	3	1	182	1	0	0	0	0	1	0	0	0	8111	623	22	3	155	3	KCNQ3	8	133141661	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	69649459	133141661	13222361	129	45305											
TG	7038	genome.wustl.edu	37	chr8	133899614	133899614	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagactgtgaaaagcaaaGggctcgcatgcaaagcctca	15	5	10	11	1	1	2	1	1	0	1	2	2	1	2	1	1	3	4	1	1	4	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:133899614G>C	ENST00000220616.4	+	9	2037	c.1997G>C	c.(1996-1998)aGg>aCg	p.R666T	TG_ENST00000377869.1_Missense_Mutation_p.R666T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	666	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)		GAAAAGCAAAGGGCTCGCATG	0.567																																																	0													61	56	58					8																	133899614		2203	4300	6503	SO:0001583	missense	0			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.1997G>C	8.37:g.133899614G>C	ENSP00000220616:p.Arg666Thr		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.R666T	ENST00000220616.4	37	c.1997	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603227	0.66445	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.64260	-0.09;-0.09	5.74	5.74	0.90152	Thyroglobulin type-1 (3);	0.000000	0.64402	D	0.000003	D	0.83751	0.5322	M	0.94063	3.49	0.33501	D	0.589933	D	0.89917	1.0	D	0.80764	0.994	D	0.90614	0.4554	10	0.87932	D	0	.	14.5158	0.67818	0.0:0.1462:0.8538:0.0	.	666	P01266	THYG_HUMAN	T	666	ENSP00000367100:R666T;ENSP00000220616:R666T	ENSP00000220616:R666T	R	+	2	0	TG	133968796	1.000000	0.71417	0.990000	0.47175	0.847000	0.48162	5.932000	0.70121	2.715000	0.92844	0.655000	0.94253	AGG	TG	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	ENSG00000042832		0.567	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	27	0	G	NM_003235		133899614	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	30.43	32	14	SNP	0.998	C	C	133899614	G	C	133899614	3	2	182	1	0	0	0	0	1	0	0	0	15860	1000	35	5	2031	5	TG	8	133899614	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	757953	133899614	12464408	130	45306											
TG	7038	genome.wustl.edu	37	chr8	134030045	134030045	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctctctgctcagctatgaGgcatctgtaccttctgtgcc	6	14	8	13	0	5	1	1	1	4	0	6	1	5	1	2	1	4	4	2	1	2	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:134030045G>C	ENST00000220616.4	+	38	6625	c.6585G>C	c.(6583-6585)gaG>gaC	p.E2195D	TG_ENST00000377869.1_Missense_Mutation_p.E2138D|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.E328D|TG_ENST00000542445.1_Missense_Mutation_p.E565D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2195					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)		TCAGCTATGAGGCATCTGTAC	0.572																																																	0													93	86	88					8																	134030045		2203	4300	6503	SO:0001583	missense	0			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.6585G>C	8.37:g.134030045G>C	ENSP00000220616:p.Glu2195Asp		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.E2195D	ENST00000220616.4	37	c.6585	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.05|10.05	1.244257|1.244257	0.22796|0.22796	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543;ENST00000518108|ENST00000519178	T;T;T;T|.	0.67698|.	-0.06;-0.06;-0.28;-0.28|.	5.53|5.53	-1.41|-1.41	0.08941|0.08941	.|.	0.903793|.	0.09471|.	N|.	0.797621|.	T|T	0.19366|0.19366	0.0465|0.0465	N|N	0.20685|0.20685	0.6|0.6	0.09310|0.09310	N|N	1|1	B;B;B|.	0.13145|.	0.002;0.0;0.007|.	B;B;B|.	0.11329|.	0.006;0.002;0.006|.	T|T	0.27262|0.27262	-1.0079|-1.0079	10|5	0.14656|.	T|.	0.56|.	.|.	4.048|4.048	0.09781|0.09781	0.2571:0.0:0.2662:0.4767|0.2571:0.0:0.2662:0.4767	.|.	328;565;2195|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	D|R	2138;1001;2195;565;328;34|651	ENSP00000367100:E2138D;ENSP00000220616:E2195D;ENSP00000441693:E565D;ENSP00000430430:E328D|.	ENSP00000220616:E2195D|.	E|G	+|+	3|1	2|0	TG|TG	134099227|134099227	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.657000|0.657000	0.38888|0.38888	-0.000000|-0.000000	0.12993|0.12993	-0.092000|-0.092000	0.12417|0.12417	-0.136000|-0.136000	0.14681|0.14681	GAG|GGC	TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.572	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	35	0	G	NM_003235		134030045	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	37.25	32	19	SNP	0.000	C	C	134030045	G	C	134030045	3	2	182	1	0	0	0	0	1	0	0	0	15860	991	35	5	6735	5	TG	8	134030045	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	130431	134030045	12333977	131	45307											
KHDRBS3	10656	genome.wustl.edu	37	chr8	136594204	136594204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaggagtcctgtccacccGagggccagtgagtcggggaa	9	5	16	11	2	0	2	0	1	0	1	3	5	2	4	4	4	0	0	4	4	1	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:136594204G>A	ENST00000355849.5	+	6	1105	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	232	Interaction with SIAH1.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CTGTCCACCCGAGGGCCAGTG	0.612																																																	0													62	61	61					8																	136594204		2203	4300	6503	SO:0001583	missense	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.695G>A	8.37:g.136594204G>A	ENSP00000348108:p.Arg232Gln		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	smart_KH_dom	p.R232Q	ENST00000355849.5	37	c.695	CCDS6374.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.432477|3.432477	0.62844|0.62844	.|.	.|.	ENSG00000131773|ENSG00000131773	ENST00000524282|ENST00000355849;ENST00000524199	.|T	.|0.47177	.|0.85	6.07|6.07	5.19|5.19	0.71726|0.71726	.|.	.|1.574780	.|0.04987	.|N	.|0.466611	T|T	0.68192|0.68192	0.2974|0.2974	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|P;D	.|0.76494	.|0.935;0.999	.|B;P	.|0.58721	.|0.211;0.844	T|T	0.54364|0.54364	-0.8305|-0.8305	5|10	.|0.18710	.|T	.|0.47	-19.4473|-19.4473	16.6221|16.6221	0.84933|0.84933	0.0:0.1299:0.8701:0.0|0.0:0.1299:0.8701:0.0	.|.	.|232;232	.|O75525-2;O75525	.|.;KHDR3_HUMAN	K|Q	147|232;204	.|ENSP00000348108:R232Q	.|ENSP00000348108:R232Q	E|R	+|+	1|2	0|0	KHDRBS3|KHDRBS3	136663386|136663386	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.413000|0.413000	0.31143|0.31143	6.744000|6.744000	0.74854|0.74854	1.572000|1.572000	0.49736|0.49736	-0.172000|-0.172000	0.13284|0.13284	GAG|CGA	KHDRBS3	-	NULL	ENSG00000131773		0.612	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1	-	0	40	0	G			136594204	1	tier1	-	no_errors	ENST00000355849	ensembl	human	known	74_37	missense	47.69	34	31	SNP	0.991	A	A	136594204	G	A	136594204	3	1	182	1	0	0	0	0	1	0	0	0	8175	1058	37	1	717	1	KHDRBS3	8	136594204	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	2564159	136594204	9769818	132	45308											
EIF2C2	27161	genome.wustl.edu	37	chr8	141567319	141567319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccaccgtctgcccgctctCctgctgcagcgggaatctga	5	9	10	17	3	3	1	0	1	3	0	5	2	4	2	4	1	4	3	4	1	1	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:141567319C>T	ENST00000220592.5	-	8	1007	c.895G>A	c.(895-897)Gag>Aag	p.E299K	AGO2_ENST00000519980.1_Missense_Mutation_p.E299K	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	299	PAZ. {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)										TGCCCGCTCTCCTGCTGCAGC	0.587																																																	0													86	89	88					8																	141567319		2203	4300	6503	SO:0001583	missense	0			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.895G>A	8.37:g.141567319C>T	ENSP00000220592:p.Glu299Lys		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.E299K	ENST00000220592.5	37	c.895	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219604	0.79464	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.09817	2.94;2.94	5.01	4.13	0.48395	Argonaute/Dicer protein, PAZ (4);	0.099165	0.64402	D	0.000002	T	0.17959	0.0431	L	0.52905	1.665	0.80722	D	1	B;B	0.27656	0.184;0.056	B;B	0.40982	0.331;0.345	T	0.03463	-1.1034	10	0.40728	T	0.16	-9.4511	13.5454	0.61699	0.0:0.9239:0.0:0.0761	.	299;299	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	K	299	ENSP00000220592:E299K;ENSP00000430176:E299K	ENSP00000220592:E299K	E	-	1	0	EIF2C2	141636501	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.671000	0.83941	1.220000	0.43490	0.655000	0.94253	GAG	AGO2	-	pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom	ENSG00000123908		0.587	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO2	HGNC	protein_coding	OTTHUMT00000377866.4	-	0	62	0	C			141567319	-1	tier1	-	no_errors	ENST00000220592	ensembl	human	known	74_37	missense	30.91	38	17	SNP	1.000	T	T	141567319	C	T	141567319	3	4	182	1	0	0	0	0	1	0	0	0	5020	864	30	3	1732	3	EIF2C2	8	141567319	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	4973115	141567319	4796703	133	45309											
RHPN1	114822	genome.wustl.edu	37	chr8	144462882	144462882	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcccagacgctgcagcgctCactggccaagtatgcggagc	8	6	12	15	3	1	1	1	0	0	1	2	2	2	2	2	2	4	4	2	2	2	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr8:144462882C>G	ENST00000289013.6	+	11	1441	c.1340C>G	c.(1339-1341)tCa>tGa	p.S447*		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	472	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)			CTGCAGCGCTCACTGGCCAAG	0.682																																																	0													21	26	24					8																	144462882		2131	4241	6372	SO:0001587	stop_gained	0			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.1340C>G	8.37:g.144462882C>G	ENSP00000289013:p.Ser447*		Q8TAV1|Q96PV9	Nonsense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.S447*	ENST00000289013.6	37	c.1340	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.423466	0.96111	.	.	ENSG00000158106	ENST00000289013	.	.	.	4.34	4.34	0.51931	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.5526	15.8385	0.78818	0.0:1.0:0.0:0.0	.	.	.	.	X	447	.	ENSP00000289013:S447X	S	+	2	0	RHPN1	144534025	1.000000	0.71417	0.854000	0.33618	0.039000	0.13416	7.289000	0.78701	1.965000	0.57142	0.313000	0.20887	TCA	RHPN1	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000158106		0.682	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	-	0	64	0	C			144462882	1	tier1	-	no_errors	ENST00000289013	ensembl	human	known	74_37	nonsense	21.43	33	9	SNP	0.999	G	G	144462882	C	G	144462882	4	3	182	1	0	0	0	0	0	1	0	0	13395	838	29	5	1382	5	RHPN1	8	144462882	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	2895563	144462882	1901140	134	45310											
KIAA2026	158358	genome.wustl.edu	37	chr9	5922290	5922290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgttgttgttgatgacaGaggctgacctgtggaggaaa	10	12	15	4	0	0	4	0	3	0	1	0	6	0	6	1	3	0	4	1	3	2	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr9:5922290G>T	ENST00000399933.3	-	8	3705	c.3706C>A	c.(3706-3708)Ctg>Atg	p.L1236M	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L1206M	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1236										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GTTGATGACAGAGGCTGACCT	0.478																																																	0													108	103	105					9																	5922290		2041	4194	6235	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3706C>A	9.37:g.5922290G>T	ENSP00000382815:p.Leu1236Met		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.L1236M	ENST00000399933.3	37	c.3706		9	.	.	.	.	.	.	.	.	.	.	G	7.901	0.734443	0.15574	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.75	2.89	0.33648	.	0.322422	0.21906	N	0.067368	T	0.28499	0.0705	N	0.19112	0.55	0.23780	N	0.996867	P	0.44429	0.835	P	0.49332	0.607	T	0.05451	-1.0884	9	0.48119	T	0.1	0.0063	5.6614	0.17670	0.1876:0.1652:0.6472:0.0	.	1236	Q5HYC2	K2026_HUMAN	M	1236;1206	.	ENSP00000370870:L1206M	L	-	1	2	KIAA2026	5912290	0.727000	0.28069	0.989000	0.46669	0.825000	0.46686	0.172000	0.16704	0.612000	0.30071	0.555000	0.69702	CTG	KIAA2026	-	NULL	ENSG00000183354		0.478	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	-	0	64	0	G	NM_001017969		5922290	-1	tier1	-	no_errors	ENST00000399933	ensembl	human	novel	74_37	missense	5.56	68	4	SNP	0.965	T	T	5922290	G	T	5922290	3	4	182	1	0	0	0	0	1	0	0	0	8297	933	33	3	2609	3	KIAA2026	9	5922290	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		5922290	135291141	135	45311											
KIAA1161	57462	genome.wustl.edu	37	chr9	34371966	34371966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcctggtccacggcgcGcccgtacagcgcccatgtgg	4	8	13	16	5	0	0	0	0	0	0	2	0	2	0	4	3	2	1	4	3	1	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr9:34371966G>T	ENST00000297625.7	-	2	1099	c.874C>A	c.(874-876)Cgc>Agc	p.R292S		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	326					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TCCACGGCGCGCCCGTACAGC	0.602																																																	0													84	87	86					9																	34371966		2146	4225	6371	SO:0001583	missense	0			AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.874C>A	9.37:g.34371966G>T	ENSP00000297625:p.Arg292Ser		Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	p.R292S	ENST00000297625.7	37	c.874		9	.	.	.	.	.	.	.	.	.	.	G	8.464	0.856052	0.17106	.	.	ENSG00000164976	ENST00000297625	T	0.42513	0.97	5.76	4.79	0.61399	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.250711	0.42294	D	0.000738	T	0.30696	0.0773	L	0.38953	1.18	0.29696	N	0.84056	B	0.24651	0.108	B	0.28232	0.087	T	0.14420	-1.0473	10	0.11182	T	0.66	-10.7155	10.9457	0.47299	0.0:0.0:0.6572:0.3428	.	326	Q6NSJ0	K1161_HUMAN	S	292	ENSP00000297625:R292S	ENSP00000297625:R292S	R	-	1	0	KIAA1161	34361966	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.915000	0.56409	2.724000	0.93272	0.561000	0.74099	CGC	KIAA1161	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000164976		0.602	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	KIAA1161	HGNC	protein_coding	OTTHUMT00000052158.1		0	19	0	G	XM_351807		34371966	-1			no_errors	ENST00000297625	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.999	T	T	34371966	G	T	34371966	3	4	182	1	0	0	0	0	1	0	0	0	8238	1087	38	2	1172	2	KIAA1161	9	34371966	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	28449676	34371966	106841465	136	45312											
SMC5	23137	genome.wustl.edu	37	chr9	72929739	72929739	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaagcaccttcaagatctTtgaatgaacttaagtaagtc	16	11	6	8	0	2	3	1	2	1	1	3	3	2	3	1	0	2	2	1	0	6	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr9:72929739T>G	ENST00000361138.5	+	12	1718	c.1660T>G	c.(1660-1662)Ttg>Gtg	p.L554V		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	554	Flexible hinge.				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						TTCAAGATCTTTGAATGAACT	0.274																																																	0													45	47	46					9																	72929739		2199	4292	6491	SO:0001583	missense	0			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.1660T>G	9.37:g.72929739T>G	ENSP00000354957:p.Leu554Val		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	p.L554V	ENST00000361138.5	37	c.1660	CCDS6632.1	9	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264168	0.39995	.	.	ENSG00000198887	ENST00000361138	T	0.17054	2.3	5.0	2.78	0.32641	RecF/RecN/SMC (1);	0.082188	0.49305	D	0.000159	T	0.11537	0.0281	L	0.40543	1.245	0.31532	N	0.661054	P	0.45531	0.86	B	0.43052	0.406	T	0.13019	-1.0525	10	0.12430	T	0.62	-7.8787	3.5319	0.07779	0.2795:0.4782:0.0:0.2422	.	554	Q8IY18	SMC5_HUMAN	V	554	ENSP00000354957:L554V	ENSP00000354957:L554V	L	+	1	2	SMC5	72119559	1.000000	0.71417	0.985000	0.45067	0.758000	0.43043	1.432000	0.34936	0.284000	0.22305	-0.334000	0.08254	TTG	SMC5	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000198887		0.274	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	HGNC	protein_coding	OTTHUMT00000052603.1	-	0	90	0	T	NM_015110		72929739	1	tier1	-	no_errors	ENST00000361138	ensembl	human	known	74_37	missense	32.98	63	31	SNP	0.996	G	G	72929739	T	G	72929739	3	3	182	1	0	0	0	0	1	0	0	0	14831	1838	64	4	1706	4	SMC5	9	72929739	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	38557773	72929739	68283692	137	45313											
NTRK2	4915	genome.wustl.edu	37	chr9	87563393	87563393	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccagaccctgaaggatgccaGtgacaatgcacgcaaggact	13	5	11	12	1	0	3	0	2	0	1	0	5	0	5	3	2	2	2	3	2	3	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr9:87563393G>T	ENST00000323115.4	+	14	2086	c.1733G>T	c.(1732-1734)aGt>aTt	p.S578I	NTRK2_ENST00000376214.1_Missense_Mutation_p.S594I|NTRK2_ENST00000277120.3_Missense_Mutation_p.S594I|NTRK2_ENST00000376213.1_Missense_Mutation_p.S578I			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	578	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AAGGATGCCAGTGACAATGCA	0.522										TSP Lung(25;0.17)																																							0													108	79	89					9																	87563393		2203	4300	6503	SO:0001583	missense	0			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.1733G>T	9.37:g.87563393G>T	ENSP00000314586:p.Ser578Ile		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.S594I	ENST00000323115.4	37	c.1781	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100594	0.76983	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	5.34	5.34	0.76211	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	0.94781	0.8315	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.75484	0.98;0.986;0.938	D	0.95206	0.8321	10	0.87932	D	0	.	19.0469	0.93025	0.0:0.0:1.0:0.0	.	578;594;624	Q16620;Q16620-4;Q59GJ1	NTRK2_HUMAN;.;.	I	594;578;594;578	ENSP00000365387:S594I;ENSP00000365386:S578I;ENSP00000277120:S594I;ENSP00000314586:S578I	ENSP00000277120:S594I	S	+	2	0	NTRK2	86753213	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	3.972000	0.56838	2.509000	0.84616	0.655000	0.94253	AGT	NTRK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000148053		0.522	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	-	0	49	0	G			87563393	1	tier1	-	no_errors	ENST00000277120	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	87563393	G	T	87563393	3	4	182	1	0	0	0	0	1	0	0	0	10746	1029	36	3	1914	3	NTRK2	9	87563393	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	14633654	87563393	53650038	138	45314											
OR13C2	392376	genome.wustl.edu	37	chr9	107367331	107367331	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatgatgaactcattgtctGagatgtcagcacaggccagt	11	10	11	9	0	3	3	2	3	1	1	3	4	3	3	1	1	2	2	1	1	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr9:107367331G>C	ENST00000542196.1	-	1	620	c.578C>G	c.(577-579)tCa>tGa	p.S193*		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	193						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						CTCATTGTCTGAGATGTCAGC	0.393																																																	0													156	151	153					9																	107367331		2201	4300	6501	SO:0001587	stop_gained	0				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.578C>G	9.37:g.107367331G>C	ENSP00000438815:p.Ser193*		B9EGV8|Q6IF54	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S193*	ENST00000542196.1	37	c.578	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209120	0.58343	.	.	ENSG00000257019	ENST00000542196	.	.	.	3.53	2.61	0.31194	.	0.000000	0.33235	U	0.005132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.379	0.44099	0.0:0.2019:0.7981:0.0	.	.	.	.	X	193	.	ENSP00000438815:S193X	S	-	2	0	OR13C2	106407152	0.000000	0.05858	0.203000	0.23512	0.730000	0.41778	-0.446000	0.06837	0.661000	0.30985	0.462000	0.41574	TCA	OR13C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000257019		0.393	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	-	0	33	0	G	NM_001004481		107367331	-1	tier1	-	no_errors	ENST00000542196	ensembl	human	known	74_37	nonsense	29.17	34	14	SNP	0.202	C	C	107367331	G	C	107367331	4	2	182	1	0	0	0	0	0	1	0	0	10973	1294	45	5	381	5	OR13C2	9	107367331	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	19803938	107367331	33846100	139	45315											
LMX1B	4010	genome.wustl.edu	37	chr9	129377702	129377702	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gccgtctgcgagggctgccaGcggcccatctccgaccgctt	4	7	13	17	5	2	0	0	0	2	0	3	2	2	0	5	2	3	2	5	2	0	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr9:129377702G>T	ENST00000373474.4	+	2	187	c.180G>T	c.(178-180)caG>caT	p.Q60H	LMX1B_ENST00000561065.1_Missense_Mutation_p.Q37H|RP11-123K19.1_ENST00000432418.1_RNA|RP11-123K19.1_ENST00000451449.2_RNA|LMX1B_ENST00000355497.5_Missense_Mutation_p.Q60H|RP11-123K19.1_ENST00000425370.1_RNA|LMX1B_ENST00000526117.1_Missense_Mutation_p.Q60H|LMX1B_ENST00000425646.2_Missense_Mutation_p.Q37H			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	60	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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						AGGGCTGCCAGCGGCCCATCT	0.711									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)												0													37	37	37					9																	129377702		2203	4300	6503	SO:0001583	missense	0	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.180G>T	9.37:g.129377702G>T	ENSP00000362573:p.Gln60His		F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.Q60H	ENST00000373474.4	37	c.180	CCDS55342.1	9	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323202	0.60634	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	4.71	4.71	0.59529	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	T	0.79370	0.4434	N	0.16478	0.41	0.80722	D	1	B;B;B	0.15141	0.005;0.008;0.012	B;B;B	0.14578	0.008;0.011;0.009	T	0.75918	-0.3148	10	0.54805	T	0.06	.	16.2213	0.82258	0.0:0.0:1.0:0.0	.	37;37;60	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	H	60;60;60;37	ENSP00000436930:Q60H;ENSP00000362573:Q60H;ENSP00000347684:Q60H;ENSP00000390923:Q37H	ENSP00000347684:Q60H	Q	+	3	2	LMX1B	128417523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.653000	0.67967	2.180000	0.69256	0.561000	0.74099	CAG	LMX1B	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000136944		0.711	LMX1B-002	KNOWN	basic|CCDS	protein_coding	LMX1B	HGNC	protein_coding	OTTHUMT00000054123.2	-	0	62	0	G			129377702	1	tier1	-	no_errors	ENST00000355497	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	129377702	G	T	129377702	3	4	182	1	0	0	0	0	1	0	0	0	8892	962	34	3	186	3	LMX1B	9	129377702	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	22010371	129377702	11835729	140	45316											
GPSM1	26086	genome.wustl.edu	37	chr9	139244051	139244051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccccaggagcagaatggaGacagccaccattcaggggac	12	4	12	13	0	1	2	1	0	0	2	2	5	2	4	4	4	2	1	4	4	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr9:139244051G>A	ENST00000440944.1	+	11	1511	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	431	Interaction with STK11/LKB1. {ECO:0000250}.|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)		GCAGAATGGAGACAGCCACCA	0.657																																																	0													12	8	10					9																	139244051		1959	3846	5805	SO:0001583	missense	0			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.1291G>A	9.37:g.139244051G>A	ENSP00000392828:p.Asp431Asn		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR_1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D431N	ENST00000440944.1	37	c.1291	CCDS48055.1	9	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003522	0.35320	.	.	ENSG00000160360	ENST00000440944;ENST00000354753	D;D	0.90261	-2.64;-2.64	4.62	4.62	0.57501	.	1.018290	0.07843	N	0.963312	D	0.84124	0.5403	N	0.26042	0.785	0.80722	D	1	P	0.36753	0.568	B	0.37550	0.253	T	0.73757	-0.3882	10	0.02654	T	1	-28.6456	13.335	0.60512	0.0:0.0:1.0:0.0	.	431	Q86YR5	GPSM1_HUMAN	N	431;408	ENSP00000392828:D431N;ENSP00000346797:D408N	ENSP00000346797:D408N	D	+	1	0	GPSM1	138363872	0.009000	0.17119	1.000000	0.80357	0.992000	0.81027	1.185000	0.32065	2.268000	0.75426	0.655000	0.94253	GAC	GPSM1	-	NULL	ENSG00000160360		0.657	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM1	HGNC	protein_coding		-	0	69	0	G	NM_015597		139244051	1	tier1	-	no_errors	ENST00000440944	ensembl	human	known	74_37	missense	43.40	30	23	SNP	1.000	A	A	139244051	G	A	139244051	3	1	182	1	0	0	0	0	1	0	0	0	6761	942	33	3	1500	3	GPSM1	9	139244051	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	9866349	139244051	1969380	141	45317											
ABCA2	20	genome.wustl.edu	37	chr9	139904091	139904091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	gggtccatgcctgtggtgggCtcgtcctggggatgggtggc	2	10	20	9	1	0	0	0	0	0	0	3	1	2	1	3	7	1	1	3	7	0	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr9:139904091C>A	ENST00000371605.3	-	43	6780	c.6633G>T	c.(6631-6633)gaG>gaT	p.E2211D	ABCA2_ENST00000265662.5_Missense_Mutation_p.E2212D|ABCA2_ENST00000341511.6_Missense_Mutation_p.E2212D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2211	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)		CTGTGGTGGGCTCGTCCTGGG	0.642																																																	0													56	69	65					9																	139904091		2188	4293	6481	SO:0001583	missense	0			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.6633G>T	9.37:g.139904091C>A	ENSP00000360666:p.Glu2211Asp		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E2212D	ENST00000371605.3	37	c.6636		9	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543376	0.65198	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000398210;ENST00000355090;ENST00000341511	D;D;D	0.98602	-5.02;-5.02;-5.02	3.42	2.51	0.30379	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.332844	0.29760	N	0.011275	D	0.98317	0.9442	H	0.97516	4.02	0.49389	D	0.999784	P;P	0.45634	0.773;0.863	B;B	0.42495	0.389;0.389	D	0.97553	1.0093	10	0.87932	D	0	.	9.5109	0.39076	0.0:0.8146:0.0:0.1854	.	2211;2242	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	D	2212;2211;113;2242;2212	ENSP00000265662:E2212D;ENSP00000360666:E2211D;ENSP00000344155:E2212D	ENSP00000265662:E2212D	E	-	3	2	ABCA2	139023912	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	1.806000	0.38892	0.772000	0.33382	0.491000	0.48974	GAG	ABCA2	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000107331		0.642	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		-	0	129	0	C	NM_001606		139904091	-1	tier1	-	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	53.70	25	29	SNP	1.000	A	A	139904091	C	A	139904091	3	1	182	1	0	0	0	0	1	0	0	0	32	796	28	3	698	3	ABCA2	9	139904091	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	660040	139904091	1309340	142	45318											
LARP4B	23185	genome.wustl.edu	37	chr10	909779	909779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgcgggtctggcaatgCggcattctcatggccctggt	4	11	13	13	2	2	0	1	0	2	0	4	0	3	0	2	5	2	2	2	5	1	1	rs375571598		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:909779C>T	ENST00000316157.3	-	4	374	c.334G>A	c.(334-336)Gca>Aca	p.A112T		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	112					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCTGGCAATGCGGCATTCTCA	0.507																																																	0													100	96	98					10																	909779		2203	4300	6503	SO:0001583	missense	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.334G>A	10.37:g.909779C>T	ENSP00000326128:p.Ala112Thr		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.A112T	ENST00000316157.3	37	c.334	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	C	7.182	0.589863	0.13812	.	.	ENSG00000107929	ENST00000316157;ENST00000406525	T	0.30981	1.51	5.42	4.51	0.55191	.	0.369134	0.27473	N	0.019220	T	0.12561	0.0305	N	0.08118	0	0.09310	N	1	P	0.37352	0.591	B	0.25140	0.058	T	0.11518	-1.0584	10	0.32370	T	0.25	-2.9526	9.7813	0.40649	0.1399:0.7871:0.0:0.073	.	112	Q92615	LAR4B_HUMAN	T	112	ENSP00000326128:A112T	ENSP00000326128:A112T	A	-	1	0	LARP4B	899779	0.612000	0.27000	0.033000	0.17914	0.005000	0.04900	2.461000	0.45040	1.245000	0.43885	0.655000	0.94253	GCA	LARP4B	-	NULL	ENSG00000107929		0.507	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	-	0	29	0	C	NM_015155		909779	-1	tier1	-	no_errors	ENST00000316157	ensembl	human	known	74_37	missense	45.00	33	27	SNP	0.227	T	T	909779	C	T	909779	3	4	182	1	0	0	0	0	1	0	0	0	8659	768	27	1	1938	1	LARP4B	10	909779	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09		909779	134624968	143	45319											
ANKRD26	22852	genome.wustl.edu	37	chr10	27349452	27349452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttattaccttcaagtgaaGatatctctcaggagactcta	13	13	6	9	0	4	3	2	1	2	2	5	4	4	3	1	1	1	0	1	1	6	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:27349452G>A	ENST00000376087.4	-	14	1645	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F	ANKRD26_ENST00000436985.2_Missense_Mutation_p.L510F	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	494					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCAAGTGAAGATATCTCTCA	0.254																																																	0													20	19	19					10																	27349452		1800	4031	5831	SO:0001583	missense	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1480C>T	10.37:g.27349452G>A	ENSP00000365255:p.Leu494Phe		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L510F	ENST00000376087.4	37	c.1528	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	G	7.904	0.735101	0.15574	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.31510	1.49;1.53	4.88	1.91	0.25777	.	4.276560	0.01613	U	0.022648	T	0.22166	0.0534	N	0.19112	0.55	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.18618	-1.0331	10	0.48119	T	0.1	.	4.8809	0.13679	0.2664:0.1552:0.5784:0.0	.	494;494;510	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	F	494;510	ENSP00000365255:L494F;ENSP00000405112:L510F	ENSP00000365255:L494F	L	-	1	0	ANKRD26	27389458	0.000000	0.05858	0.000000	0.03702	0.216000	0.24613	0.004000	0.13106	0.096000	0.17463	0.305000	0.20034	CTT	ANKRD26	-	NULL	ENSG00000107890		0.254	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	-	0	42	0	G			27349452	-1	tier1	-	no_errors	ENST00000436985	ensembl	human	known	74_37	missense	67.27	18	37	SNP	0.000	A	A	27349452	G	A	27349452	3	1	182	1	0	0	0	0	1	0	0	0	654	942	33	3	3736	3	ANKRD26	10	27349452	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	26439673	27349452	108185295	144	45320											
ZEB1	6935	genome.wustl.edu	37	chr10	31809541	31809541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagatggtaatgtaataagGcaagtgttggagaataatca	16	11	12	2	0	1	2	1	0	0	2	1	3	1	2	0	3	0	5	0	3	7	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:31809541G>T	ENST00000320985.10	+	7	1388	c.1278G>T	c.(1276-1278)agG>agT	p.R426S	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.R359S|ZEB1_ENST00000361642.5_Missense_Mutation_p.R427S|ZEB1_ENST00000560721.2_Missense_Mutation_p.R406S|ZEB1_ENST00000446923.2_Missense_Mutation_p.R410S			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	426					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGTAATAAGGCAAGTGTTGG	0.388																																					Ovarian(40;423 959 14296 36701 49589)												0													74	71	72					10																	31809541		2203	4300	6503	SO:0001583	missense	0			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.1278G>T	10.37:g.31809541G>T	ENSP00000319248:p.Arg426Ser		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.R427S	ENST00000320985.10	37	c.1281	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357839	0.41801	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49	5.87	4.0	0.46444	.	0.000000	0.64402	D	0.000004	D	0.87997	0.6319	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.85130	0.991;0.997;0.991;0.994;0.994;0.979;0.994;0.994	D	0.87524	0.2448	10	0.87932	D	0	-17.1906	12.2364	0.54518	0.2002:0.0:0.7998:0.0	.	359;426;410;426;426;406;427;426	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	S	208;426;427;426;359;426;406;285;317;410	ENSP00000444282:R208S;ENSP00000354487:R427S;ENSP00000444891:R359S;ENSP00000319248:R426S;ENSP00000391612:R410S	ENSP00000319248:R426S	R	+	3	2	ZEB1	31849547	0.998000	0.40836	0.999000	0.59377	0.917000	0.54804	0.409000	0.21082	0.481000	0.27557	-0.797000	0.03246	AGG	ZEB1	-	NULL	ENSG00000148516		0.388	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	-	0	23	0	G	NM_030751		31809541	1	tier1	-	no_errors	ENST00000361642	ensembl	human	known	74_37	missense	26.32	56	20	SNP	1.000	T	T	31809541	G	T	31809541	3	4	182	1	0	0	0	0	1	0	0	0	17671	1194	42	3	1318	3	ZEB1	10	31809541	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	4460089	31809541	103725206	145	45321											
NRP1	8829	genome.wustl.edu	37	chr10	33502640	33502640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acccaacattccagagcaagGataatctgggaagtgaaatg	16	7	10	8	0	1	2	0	1	1	1	2	4	2	4	2	2	2	1	2	2	5	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:33502640G>T	ENST00000265371.4	-	10	1813	c.1288C>A	c.(1288-1290)Cct>Act	p.P430T	NRP1_ENST00000374816.3_Missense_Mutation_p.P430T|NRP1_ENST00000374822.4_Missense_Mutation_p.P430T|NRP1_ENST00000374821.5_Missense_Mutation_p.P430T|NRP1_ENST00000374823.5_Missense_Mutation_p.P430T|NRP1_ENST00000432372.2_Missense_Mutation_p.P430T|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000395995.1_Missense_Mutation_p.P430T|NRP1_ENST00000374875.1_Missense_Mutation_p.P249T|NRP1_ENST00000374867.2_Missense_Mutation_p.P430T			O14786	NRP1_HUMAN	neuropilin 1	430					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCAGAGCAAGGATAATCTGGG	0.398																																					Melanoma(104;886 1489 44640 45944 51153)												0													72	70	71					10																	33502640		2203	4300	6503	SO:0001583	missense	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1288C>A	10.37:g.33502640G>T	ENSP00000265371:p.Pro430Thr		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.P430T	ENST00000265371.4	37	c.1288	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860878	0.71834	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23	5.41	5.41	0.78517	Coagulation factor 5/8 C-terminal type domain (1);	0.000000	0.85682	D	0.000000	D	0.98682	0.9558	L	0.43923	1.385	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.997;0.993;0.998;0.998;0.998	D	0.99929	1.1308	10	0.87932	D	0	-14.0508	19.1846	0.93637	0.0:0.0:1.0:0.0	.	430;430;430;430;430;430;430;249;430	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	T	430;249;430;430;430;430;430;430;103	ENSP00000265371:P430T;ENSP00000364009:P249T;ENSP00000364001:P430T;ENSP00000379317:P430T;ENSP00000363955:P430T;ENSP00000363954:P430T;ENSP00000363956:P430T;ENSP00000363949:P430T;ENSP00000408911:P103T	ENSP00000265371:P430T	P	-	1	0	NRP1	33542646	1.000000	0.71417	0.997000	0.53966	0.387000	0.30353	9.864000	0.99589	2.529000	0.85273	0.491000	0.48974	CCT	NRP1	-	pirsf_Neuropilin,smart_Coagulation_fac_5/8-C_type_dom	ENSG00000099250		0.398	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	-	0	66	0	G			33502640	-1	tier1	-	no_errors	ENST00000265371	ensembl	human	known	74_37	missense	5.15	92	5	SNP	1.000	T	T	33502640	G	T	33502640	3	4	182	1	0	0	0	0	1	0	0	0	10699	1174	41	3	1530	3	NRP1	10	33502640	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1693099	33502640	102032107	146	45322											
PGBD3	267004	genome.wustl.edu	37	chr10	50724205	50724205	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catattcctcatgtttagtaTttgggtttttaccctgatac	8	19	6	8	0	1	1	1	1	0	0	2	1	2	1	2	1	2	3	2	1	5	10			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:50724205T>A	ENST00000374127.3	-	2	1157	c.956A>T	c.(955-957)aAt>aTt	p.N319I	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.N787I|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Missense_Mutation_p.N787I|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.N787I|PGBD3_ENST00000508005.2_Missense_Mutation_p.N319I	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	319										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATGTTTAGTATTTGGGTTTTT	0.458																																																	0													50	48	49					10																	50724205		2203	4300	6503	SO:0001583	missense	0			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.956A>T	10.37:g.50724205T>A	ENSP00000363242:p.Asn319Ile		B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	NULL	p.N787I	ENST00000374127.3	37	c.2360	CCDS7230.1	10	.	.	.	.	.	.	.	.	.	.	T	12.23	1.875731	0.33162	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	0.699	0.699	0.18093	.	.	.	.	.	T	0.12050	0.0293	N	0.14661	0.345	0.09310	N	1	D;B	0.59357	0.985;0.425	P;B	0.48654	0.585;0.371	T	0.22626	-1.0211	8	0.38643	T	0.18	-25.7861	.	.	.	.	787;319	E7EV46;Q8N328	.;PGBD3_HUMAN	I	319;319;787;787	ENSP00000363242:N319I;ENSP00000426963:N319I;ENSP00000423550:N787I;ENSP00000387966:N787I	ENSP00000387966:N787I	N	-	2	0	PGBD3;RP11-123B3.6	50394211	0.011000	0.17503	0.029000	0.17559	0.982000	0.71751	0.782000	0.26788	0.548000	0.28955	0.402000	0.26972	AAT	PGBD3	-	NULL	ENSG00000243251		0.458	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PGBD3	HGNC	protein_coding	OTTHUMT00000047988.1	-	0	20	0	T			50724205	-1	tier1	-	no_errors	ENST00000603152	ensembl	human	known	74_37	missense	33.33	6	3	SNP	0.004	A	A	50724205	T	A	50724205	3	1	182	1	0	0	0	0	1	0	0	0	11821	1493	52	5	829	5	PGBD3	10	50724205	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	17221565	50724205	84810542	147	45323											
SGMS1	259230	genome.wustl.edu	37	chr10	52103376	52103376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatgtgtccggtagtggagGctgcacctccttaggaggta	9	10	14	8	1	0	0	0	0	0	0	2	2	2	2	3	5	1	4	3	5	4	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:52103376G>T	ENST00000361781.2	-	7	1458	c.499C>A	c.(499-501)Cct>Act	p.P167T	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.P167T|SGMS1_ENST00000492601.2_5'Flank	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	173					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGTAGTGGAGGCTGCACCTCC	0.458																																																	0													48	44	45					10																	52103376		2203	4300	6503	SO:0001583	missense	0			AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"Sterile alpha motif (SAM) domain containing"	29799	protein-coding gene	gene with protein product		611573	"transmembrane protein 23"	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.499C>A	10.37:g.52103376G>T	ENSP00000354829:p.Pro167Thr		Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM	p.P167T	ENST00000361781.2	37	c.499	CCDS7240.1	10	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344174	0.61073	.	.	ENSG00000198964	ENST00000361781;ENST00000361543	T;T	0.58652	0.69;0.32	5.62	4.67	0.58626	.	0.100972	0.64402	D	0.000001	T	0.64757	0.2627	M	0.72894	2.215	0.51482	D	0.999923	D	0.56287	0.975	P	0.49597	0.616	T	0.70479	-0.4860	10	0.87932	D	0	-14.8506	13.8271	0.63357	0.0:0.2344:0.7655:0.0	.	173	Q86VZ5	SMS1_HUMAN	T	167	ENSP00000354829:P167T;ENSP00000355235:P167T	ENSP00000355235:P167T	P	-	1	0	SGMS1	51773382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.117000	0.71577	2.648000	0.89879	0.650000	0.86243	CCT	SGMS1	-	NULL	ENSG00000198964		0.458	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SGMS1	HGNC	protein_coding	OTTHUMT00000048074.2		0	42	0	G	NM_147156		52103376	-1			no_errors	ENST00000361781	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	52103376	G	T	52103376	3	4	182	1	0	0	0	0	1	0	0	0	14259	1203	42	3	762	3	SGMS1	10	52103376	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1379171	52103376	83431371	148	45324											
DNAJC12	56521	genome.wustl.edu	37	chr10	69565494	69565494	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggtggtatgagtcttgtCagattcttccagcatcaggt	7	15	11	8	0	4	2	2	1	2	1	5	2	5	2	1	3	1	2	1	3	1	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:69565494C>G	ENST00000225171.2	-	4	501	c.349G>C	c.(349-351)Gac>Cac	p.D117H	RNU6-1250P_ENST00000391218.1_RNA|DNAJC12_ENST00000483798.2_Missense_Mutation_p.D147H	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	117										breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TGAGTCTTGTCAGATTCTTCC	0.368																																																	0													123	125	124					10																	69565494		2203	4300	6503	SO:0001583	missense	0			AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"Heat shock proteins / DNAJ (HSP40)"	28908	protein-coding gene	gene with protein product	"J domain protein 1"	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.349G>C	10.37:g.69565494C>G	ENSP00000225171:p.Asp117His		Q5JVQ1|Q9UKB2	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.D117H	ENST00000225171.2	37	c.349	CCDS7271.1	10	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315455	0.40996	.	.	ENSG00000108176	ENST00000225171	T	0.29142	1.58	5.72	3.85	0.44370	.	0.579370	0.20224	N	0.096636	T	0.41143	0.1146	L	0.57536	1.79	0.80722	D	1	P	0.51240	0.943	P	0.52856	0.711	T	0.24190	-1.0167	10	0.45353	T	0.12	-8.2937	11.7818	0.52020	0.0:0.8514:0.0:0.1486	.	117	Q9UKB3	DJC12_HUMAN	H	117	ENSP00000225171:D117H	ENSP00000225171:D117H	D	-	1	0	DNAJC12	69235500	0.978000	0.34361	0.520000	0.27837	0.118000	0.20060	1.633000	0.37113	1.400000	0.46741	0.655000	0.94253	GAC	DNAJC12	-	NULL	ENSG00000108176		0.368	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC12	HGNC	protein_coding	OTTHUMT00000048291.1	-	0	68	0	C	NM_021800		69565494	-1	tier1	-	no_errors	ENST00000225171	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.770	G	G	69565494	C	G	69565494	3	3	182	1	0	0	0	0	1	0	0	0	4645	826	29	5	255	5	DNAJC12	10	69565494	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	17462118	69565494	65969253	149	45325											
MYPN	84665	genome.wustl.edu	37	chr10	69948764	69948764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgaaattcaacatgatGagatccccacgggcaagtgt	14	9	10	8	1	1	4	1	4	0	1	2	5	2	4	2	1	1	1	2	1	3	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:69948764G>A	ENST00000358913.5	+	13	3294	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K	MYPN_ENST00000540630.1_Missense_Mutation_p.E936K|MYPN_ENST00000354393.2_Missense_Mutation_p.E661K	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	936					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						TCAACATGATGAGATCCCCAC	0.433																																																	0													106	98	101					10																	69948764		2203	4300	6503	SO:0001583	missense	0			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.2806G>A	10.37:g.69948764G>A	ENSP00000351790:p.Glu936Lys		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E936K	ENST00000358913.5	37	c.2806	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.625630	0.96671	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.58210	0.35;0.42;0.4	5.83	5.83	0.93111	.	0.055231	0.64402	D	0.000001	T	0.68769	0.3037	L	0.59436	1.845	0.80722	D	1	D;D;D	0.69078	0.993;0.993;0.997	P;P;P	0.62740	0.84;0.84;0.906	T	0.64931	-0.6291	9	.	.	.	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	936;661;936	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	K	661;661;936;936	ENSP00000346369:E661K;ENSP00000351790:E936K;ENSP00000441668:E936K	.	E	+	1	0	MYPN	69618770	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	9.796000	0.99103	2.757000	0.94681	0.563000	0.77884	GAG	MYPN	-	NULL	ENSG00000138347		0.433	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	-	0	38	0	G	NM_032578		69948764	1	tier1	-	no_errors	ENST00000358913	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	69948764	G	A	69948764	3	1	182	1	0	0	0	0	1	0	0	0	10136	1291	45	3	2852	3	MYPN	10	69948764	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	383270	69948764	65585983	150	45326											
C10orf35	219738	genome.wustl.edu	37	chr10	71391541	71391541	+	Silent	SNP	C	C	T	0	0	0	1	1	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	ggggaaatcgtgcaggatgaCgacccccgagtgaggaccac	11	4	15	11	3	0	2	0	2	0	0	1	7	0	5	3	4	1	1	3	4	1	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:71391541C>T	ENST00000373279.4	+	3	201	c.42C>T	c.(40-42)gaC>gaT	p.D14D	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	14						integral component of membrane (GO:0016021)		p.D14D(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TGCAGGATGACGACCCCCGAG	0.597																																																	1	Substitution - coding silent(1)	breast(1)											164	121	135					10																	71391541		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.42C>T	10.37:g.71391541C>T				Silent	SNP	NULL	p.D14	ENST00000373279.4	37	c.42	CCDS7295.1	10																																																																																			C10orf35	-	NULL	ENSG00000171224		0.597	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf35	HGNC	protein_coding	OTTHUMT00000048454.1		0	49	0	C	NM_145306		71391541	1			no_errors	ENST00000373279	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.937	T	T	71391541	C	T	71391541	2	4	182	1	0	0	0	0	0	0	0	1	1608	535	19	1		1	C10orf35	10	71391541	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	1442777	71391541	64143206	151	45327											
USP54	159195	genome.wustl.edu	37	chr10	75286503	75286503	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggatatgacgccaggaaGgaaccaacccagctgatctc	12	7	11	11	1	1	2	0	2	1	0	2	5	1	5	3	3	3	1	3	3	4	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:75286503G>C	ENST00000339859.4	-	15	2196	c.2096C>G	c.(2095-2097)cCt>cGt	p.P699R	USP54_ENST00000428547.1_Missense_Mutation_p.P549R|USP54_ENST00000408019.1_Missense_Mutation_p.P699R|RNU6-883P_ENST00000384597.1_RNA|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	699					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)					ACGCCAGGAAGGAACCAACCC	0.493																																					Colon(195;880 2046 8854 25025 38456)												0													81	80	80					10																	75286503		1993	4174	6167	SO:0001583	missense	0			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.2096C>G	10.37:g.75286503G>C	ENSP00000345216:p.Pro699Arg		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P699R	ENST00000339859.4	37	c.2096	CCDS7329.2	10	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627379	0.87560	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547	T;T;T	0.69685	-0.23;-0.23;-0.42	5.95	5.95	0.96441	.	0.083518	0.47852	U	0.000209	T	0.81531	0.4842	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	0.82099	-0.0625	10	0.87932	D	0	-8.8888	18.5553	0.91081	0.0:0.0:1.0:0.0	.	699;699	Q70EL1-6;Q70EL1	.;UBP54_HUMAN	R	699;699;549	ENSP00000345216:P699R;ENSP00000386080:P699R;ENSP00000408714:P549R	ENSP00000345216:P699R	P	-	2	0	USP54	74956509	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.218000	0.77991	2.817000	0.96982	0.563000	0.77884	CCT	USP54	-	NULL	ENSG00000166348		0.493	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	-	0	40	0	G	NM_152586		75286503	-1	tier1	-	no_errors	ENST00000339859	ensembl	human	known	74_37	missense	25.00	36	12	SNP	1.000	C	C	75286503	G	C	75286503	3	2	182	1	0	0	0	0	1	0	0	0	17134	1000	35	5	2994	5	USP54	10	75286503	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	3894962	75286503	60248244	152	45328											
NDST2	8509	genome.wustl.edu	37	chr10	75565407	75565407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttctgtgcaagtgggacagGaggaagggtctgtaggcgca	9	8	17	7	1	2	0	0	0	2	0	2	3	2	3	0	5	1	3	0	5	3	2	rs71471642		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:75565407G>T	ENST00000309979.6	-	8	2240	c.1684C>A	c.(1684-1686)Cct>Act	p.P562T	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.P562T|NDST2_ENST00000299641.4_Missense_Mutation_p.P439T			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	562	Heparan sulfate N-deacetylase 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)					AGTGGGACAGGAGGAAGGGTC	0.532																																																	0													75	69	71					10																	75565407		2203	4300	6503	SO:0001583	missense	0			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.1684C>A	10.37:g.75565407G>T	ENSP00000310657:p.Pro562Thr		Q2TB32|Q59H89	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P562T	ENST00000309979.6	37	c.1684	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946138	0.92593	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.53423	0.86;0.62	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	M	0.76938	2.355	0.80722	D	1	D;P;D	0.89917	1.0;0.757;0.999	D;P;D	0.91635	0.999;0.661;0.971	T	0.72830	-0.4174	10	0.59425	D	0.04	.	20.053	0.97634	0.0:0.0:1.0:0.0	.	439;232;562	B4E139;B4DQU1;P52849	.;.;NDST2_HUMAN	T	562;439	ENSP00000310657:P562T;ENSP00000299641:P439T	ENSP00000299641:P439T	P	-	1	0	NDST2	75235413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.733000	0.93635	0.650000	0.86243	CCT	NDST2	-	NULL	ENSG00000166507		0.532	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	-	0	28	0	G	NM_003635		75565407	-1	tier1	-	no_errors	ENST00000309979	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	75565407	G	T	75565407	3	4	182	1	0	0	0	0	1	0	0	0	10295	1174	41	3	999	3	NDST2	10	75565407	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	278904	75565407	59969340	153	45329											
PANK1	53354	genome.wustl.edu	37	chr10	91353688	91353688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccatttccagagcttcttCaaaggtctcacaaccagtca	11	11	6	13	0	4	1	3	0	2	1	6	1	5	1	3	1	3	1	3	1	2	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:91353688C>T	ENST00000307534.4	-	4	1524	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	MIR107_ENST00000362127.1_RNA|PANK1_ENST00000342512.3_Missense_Mutation_p.E232K|PANK1_ENST00000322191.6_Intron|PANK1_ENST00000371774.2_Missense_Mutation_p.E259K	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	457					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						AGAGCTTCTTCAAAGGTCTCA	0.413																																																	0													135	121	126					10																	91353688		2203	4300	6503	SO:0001583	missense	0			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.1369G>A	10.37:g.91353688C>T	ENSP00000302108:p.Glu457Lys		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.E457K	ENST00000307534.4	37	c.1369	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793905	0.90453	.	.	ENSG00000152782	ENST00000342512;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D	0.99567	-6.18;-6.18;-6.18	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	M	0.78049	2.395	0.80722	D	1	P;B;P	0.52170	0.951;0.004;0.839	P;B;P	0.51866	0.682;0.011;0.592	D	0.99323	1.0907	10	0.35671	T	0.21	.	15.8556	0.78975	0.0:0.9356:0.0:0.0644	.	259;457;232	Q8TE04-4;Q8TE04;Q8TE04-2	.;PANK1_HUMAN;.	K	232;259;457;320	ENSP00000345118:E232K;ENSP00000360839:E259K;ENSP00000302108:E457K	ENSP00000302108:E457K	E	-	1	0	PANK1	91343668	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	1.644000	0.50603	-0.119000	0.15052	GAA	PANK1	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000152782		0.413	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	HGNC	protein_coding		-	0	61	0	C			91353688	-1	tier1	-	no_errors	ENST00000307534	ensembl	human	known	74_37	missense	33.33	40	20	SNP	1.000	T	T	91353688	C	T	91353688	3	4	182	1	0	0	0	0	1	0	0	0	11455	835	29	3	443	3	PANK1	10	91353688	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	15788281	91353688	44181059	154	45330											
PDE6C	5146	genome.wustl.edu	37	chr10	95372506	95372506	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagatcaaccaagttgcCgtggagaaatacctggagga	13	7	14	7	1	1	2	1	1	0	2	1	6	1	4	3	4	3	1	3	4	4	2	rs564460310		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:95372506C>T	ENST00000371447.3	+	1	162	c.24C>T	c.(22-24)gcC>gcT	p.A8A		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	8					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)	ACCAAGTTGCCGTGGAGAAAT	0.517													C|||	1	0.000199681	0	0.0014	5008	,	,		21117	0		0	False		,,,				2504	0																0													112	105	108					10																	95372506		2203	4300	6503	SO:0001819	synonymous_variant	0			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.24C>T	10.37:g.95372506C>T			A6NCR6|Q5VY29	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.A8	ENST00000371447.3	37	c.24	CCDS7429.1	10																																																																																			PDE6C	-	NULL	ENSG00000095464		0.517	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1	-	0	64	0	C	NM_006204		95372506	1	tier1	-	no_errors	ENST00000371447	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.008	T	T	95372506	C	T	95372506	2	4	182	1	0	0	0	0	0	0	0	1	11686	639	23	1		1	PDE6C	10	95372506	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	4018818	95372506	40162241	155	45331											
C10orf79	80217	genome.wustl.edu	37	chr10	105900686	105900686	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactagctggaaattttccaGttctacttgtccttgtttaa	9	18	6	8	0	1	0	0	0	1	0	3	1	3	1	2	1	3	3	2	1	5	10			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:105900686G>C	ENST00000357060.3	-	34	4460	c.4345C>G	c.(4345-4347)Ctg>Gtg	p.L1449V	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.L1421V	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						AAATTTTCCAGTTCTACTTGT	0.333																																																	0													83	81	82					10																	105900686		2203	4299	6502	SO:0001583	missense	0																														ENST00000357060.3:c.4345C>G	10.37:g.105900686G>C	ENSP00000349568:p.Leu1449Val			Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.L1449V	ENST00000357060.3	37	c.4345	CCDS31281.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.266|1.266	-0.614467|-0.614467	0.03663|0.03663	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000457071;ENST00000434629	T;T|.	0.11063|.	2.81;2.87|.	5.44|5.44	1.24|1.24	0.21308|0.21308	.|.	0.276754|.	0.30538|.	N|.	0.009409|.	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.11255|0.11255	0.115|0.115	0.26688|0.26688	N|N	0.971407|0.971407	B;B|.	0.24483|.	0.024;0.104|.	B;B|.	0.30495|.	0.076;0.116|.	T|T	0.26985|0.26985	-1.0087|-1.0087	10|5	0.07482|.	T|.	0.82|.	.|.	11.2671|11.2671	0.49116|0.49116	0.0716:0.4862:0.4422:0.0|0.0716:0.4862:0.4422:0.0	.|.	1421;1449|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	V|K	1449;1421|297;780	ENSP00000349568:L1449V;ENSP00000400289:L1421V|.	ENSP00000349568:L1449V|.	L|N	-|-	1|3	2|2	WDR96|WDR96	105890676|105890676	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.791000|0.791000	0.44710|0.44710	0.322000|0.322000	0.19576|0.19576	0.255000|0.255000	0.21593|0.21593	0.655000|0.655000	0.94253|0.94253	CTG|AAC	WDR96	-	NULL	ENSG00000197748		0.333	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR96	HGNC	protein_coding		-	0	38	0	G			105900686	-1	tier1	-	no_errors	ENST00000357060	ensembl	human	known	74_37	missense	23.64	42	13	SNP	0.998	C	C	105900686	G	C	105900686	3	2	182	1	0	0	0	0	1	0	0	0	1623	1020	36	5	672	5	C10orf79	10	105900686	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	10528180	105900686	29634061	156	45332											
EIF3A	8661	genome.wustl.edu	37	chr10	120801701	120801701	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatcatcatccaaccctcGcctgggaccccggtcatcat	8	9	7	17	3	4	0	4	0	0	0	7	2	5	1	5	2	1	0	5	2	1	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:120801701G>T	ENST00000369144.3	-	19	3458	c.3331C>A	c.(3331-3333)Cga>Aga	p.R1111R	EIF3A_ENST00000541549.1_Silent_p.R1077R	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCCAACCCTCGCCTGGGACCC	0.622																																																	0													140	141	141					10																	120801701		2203	4300	6503	SO:0001819	synonymous_variant	0			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3331C>A	10.37:g.120801701G>T			B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	pfam_PCI_dom,smart_PCI_dom	p.R1111	ENST00000369144.3	37	c.3331	CCDS7608.1	10																																																																																			EIF3A	-	NULL	ENSG00000107581		0.622	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1		0	44	0	G	NM_003750		120801701	-1			no_errors	ENST00000369144	ensembl	human	known	74_37	silent	6.98	40	3	SNP	1.000	T	T	120801701	G	T	120801701	2	4	182	1	0	0	0	0	0	0	0	1	5026	1095	38	2		2	EIF3A	10	120801701	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	14901015	120801701	14733046	157	45333											
GRK5	2869	genome.wustl.edu	37	chr10	121182726	121182726	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagacctggtctcccagacgGaggagaagctcctacagaag	13	5	12	11	1	1	4	0	0	1	4	3	6	2	5	3	3	2	1	3	3	4	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr10:121182726G>T	ENST00000392870.2	+	5	717	c.388G>T	c.(388-390)Gag>Tag	p.E130*	GRK5_ENST00000369108.3_Nonsense_Mutation_p.E25*	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	130	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CTCCCAGACGGAGGAGAAGCT	0.582																																																	0													247	241	243					10																	121182726		2203	4300	6503	SO:0001587	stop_gained	0			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.388G>T	10.37:g.121182726G>T	ENSP00000376609:p.Glu130*		D3DRD0|Q5T059	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.E130*	ENST00000392870.2	37	c.388	CCDS7612.1	10	.	.	.	.	.	.	.	.	.	.	G	38	6.664387	0.97747	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	.	.	.	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-4.9739	17.6809	0.88242	0.0:0.0:1.0:0.0	.	.	.	.	X	130;25;25	.	ENSP00000358104:E25X	E	+	1	0	GRK5	121172716	0.937000	0.31787	1.000000	0.80357	0.971000	0.66376	1.450000	0.35134	2.166000	0.68216	0.563000	0.77884	GAG	GRK5	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000198873		0.582	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK5	HGNC	protein_coding	OTTHUMT00000050652.2	-	0	66	0	G	NM_005308		121182726	1	tier1	-	no_errors	ENST00000392870	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	0.998	T	T	121182726	G	T	121182726	4	4	182	1	0	0	0	0	0	1	0	0	6819	1175	41	3	406	3	GRK5	10	121182726	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	381025	121182726	14352021	158	45334											
MOB2	81532	genome.wustl.edu	37	chr11	1501649	1501649	+	Silent	SNP	C	C	T	0	0	0	1	1	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	cacacggccatcgtctgacaCgtctctcctgtgcagaactc	8	9	8	16	3	2	2	0	1	2	1	6	2	3	2	2	1	2	1	2	1	1	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:1501649C>T	ENST00000329957.6	-	3	528	c.339G>A	c.(337-339)acG>acA	p.T113T	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	82					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						TCGTCTGACACGTCTCTCCTG	0.577																																																	0													110	116	114					11																	1501649		2087	4214	6301	SO:0001819	synonymous_variant	0				CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"MOB kinase activators"	24904	protein-coding gene	gene with protein product	"MOB2 Mps One Binder homolog (yeast)"	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.339G>A	11.37:g.1501649C>T			B4DKP3|Q96M67	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.T113	ENST00000329957.6	37	c.339	CCDS53591.1	11																																																																																			MOB2	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000182208		0.577	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MOB2	HGNC	protein_coding	OTTHUMT00000384770.1		0	10	0	C	NM_053005		1501649	-1			no_errors	ENST00000329957	ensembl	human	novel	74_37	silent	14.29	12	2	SNP	0.735	T	T	1501649	C	T	1501649	2	4	182	1	0	0	0	0	0	0	0	1	9719	523	19	1		1	MOB2	11	1501649	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09		1501649	133504867	159	45335											
FXC1	26515	genome.wustl.edu	37	chr11	6502989	6502989	+	Silent	SNP	G	G	T	0	0	1	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	gtcccccttttctctcagctGcgtgacttcctgttggtcta	3	16	8	14	1	3	1	1	1	2	0	6	1	5	1	3	1	2	2	3	1	1	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:6502989G>T	ENST00000254616.6	+	2	112	c.42G>T	c.(40-42)ctG>ctT	p.L14L	ARFIP2_ENST00000254584.2_5'Flank|ARFIP2_ENST00000423813.2_5'Flank|ARFIP2_ENST00000445086.2_5'Flank|TIMM10B_ENST00000530751.1_Intron|TIMM10B_ENST00000472836.1_Silent_p.L14L|ARFIP2_ENST00000525235.1_5'Flank|ARFIP2_ENST00000396777.3_5'Flank	NM_012192.3	NP_036324.1	Q9Y5J6	T10B_HUMAN	translocase of inner mitochondrial membrane 10 homolog B (yeast)	14					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	metal ion binding (GO:0046872)										TCTCTCAGCTGCGTGACTTCC	0.602																																																	0													76	70	72					11																	6502989		2201	4296	6497	SO:0001819	synonymous_variant	0			AF150105	CCDS7766.1	11p15.4	2012-12-07	2012-12-07	2012-12-07	ENSG00000132286	ENSG00000132286			4022	protein-coding gene	gene with protein product		607388	"fracture callus 1 (rat) homolog", "fracture callus 1 homolog (rat)"	FXC1		10552927	Standard	NM_012192		Approved	Tim9b, TIM10B	uc001mdn.4	Q9Y5J6	OTTHUMG00000133400	ENST00000254616.6:c.42G>T	11.37:g.6502989G>T			Q96FF3	Silent	SNP	pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf	p.L14	ENST00000254616.6	37	c.42	CCDS7766.1	11																																																																																			TIMM10B	-	pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf	ENSG00000132286		0.602	TIMM10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM10B	HGNC	protein_coding	OTTHUMT00000257257.2	-	0	42	0	G	NM_012192		6502989	1	tier1	-	no_errors	ENST00000254616	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.999	T	T	6502989	G	T	6502989	2	4	182	1	0	0	0	0	0	0	0	1	6137	1306	46	3		3	FXC1	11	6502989	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	5001340	6502989	128503527	160	45336											
PDE3B	5140	genome.wustl.edu	37	chr11	14889244	14889244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatactgaaagtggtgatGatgaagacggtgaagaatta	16	10	13	2	1	0	8	0	6	0	2	0	8	0	8	0	2	1	0	0	2	6	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:14889244G>A	ENST00000282096.4	+	15	3432	c.3079G>A	c.(3079-3081)Gat>Aat	p.D1027N	PDE3B_ENST00000455098.2_Missense_Mutation_p.D976N	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	1027	Catalytic. {ECO:0000250}.				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)	AAGTGGTGATGATGAAGACGG	0.373																																																	0													124	126	126					11																	14889244		2200	4294	6494	SO:0001583	missense	0			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.3079G>A	11.37:g.14889244G>A	ENSP00000282096:p.Asp1027Asn		B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.D1027N	ENST00000282096.4	37	c.3079	CCDS7817.1	11	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001536	0.74818	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.76316	-1.01;-1.01	5.73	5.73	0.89815	.	1.084620	0.07247	N	0.865166	T	0.76090	0.3939	L	0.44542	1.39	0.48762	D	0.999703	B;P	0.39665	0.008;0.682	B;B	0.36534	0.003;0.227	T	0.68458	-0.5403	10	0.31617	T	0.26	.	19.9031	0.96996	0.0:0.0:1.0:0.0	.	976;1027	B7ZM37;Q13370	.;PDE3B_HUMAN	N	1027;976	ENSP00000282096:D1027N;ENSP00000388644:D976N	ENSP00000282096:D1027N	D	+	1	0	PDE3B	14845820	1.000000	0.71417	0.951000	0.38953	0.926000	0.56050	9.090000	0.94144	2.710000	0.92621	0.561000	0.74099	GAT	PDE3B	-	NULL	ENSG00000152270		0.373	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	HGNC	protein_coding	OTTHUMT00000386974.1	-	0	38	0	G	NM_000922		14889244	1	tier1	-	no_errors	ENST00000282096	ensembl	human	known	74_37	missense	57.89	16	22	SNP	0.999	A	A	14889244	G	A	14889244	3	1	182	1	0	0	0	0	1	0	0	0	11677	1290	45	3	3137	3	PDE3B	11	14889244	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	8386255	14889244	120117272	161	45337											
CCDC73	493860	genome.wustl.edu	37	chr11	32697502	32697502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttattgtggcataatatttCtcaatttcactcagttgctt	9	19	6	7	0	3	0	3	0	1	0	4	0	3	0	0	1	1	4	0	1	4	8			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:32697502C>G	ENST00000335185.5	-	8	538	c.495G>C	c.(493-495)gaG>gaC	p.E165D	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	165										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CATAATATTTCTCAATTTCAC	0.284																																																	0													165	158	160					11																	32697502		1842	4075	5917	SO:0001583	missense	0			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.495G>C	11.37:g.32697502C>G	ENSP00000335325:p.Glu165Asp		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	NULL	p.E165D	ENST00000335185.5	37	c.495	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569920	0.65765	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.89	4.01	0.46588	.	.	.	.	.	T	0.68668	0.3026	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.68116	-0.5494	8	0.62326	D	0.03	.	8.166	0.31226	0.0:0.6981:0.0:0.3018	.	165;165	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	D	165	.	ENSP00000335325:E165D	E	-	3	2	CCDC73	32654078	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.423000	0.34837	0.814000	0.34374	0.585000	0.79938	GAG	CCDC73	-	NULL	ENSG00000186714		0.284	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2	-	0	52	0	C	NM_001008391		32697502	-1	tier1	-	no_errors	ENST00000335185	ensembl	human	known	74_37	missense	65.91	15	29	SNP	1.000	G	G	32697502	C	G	32697502	3	3	182	1	0	0	0	0	1	0	0	0	2853	912	32	5	2788	5	CCDC73	11	32697502	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	17808258	32697502	102309014	162	45338											
C11orf10	746	genome.wustl.edu	37	chr11	61557382	61557382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacgagtgtacttggtagagGtgacctcgtaactgggcaca	10	9	13	9	2	0	2	0	1	0	1	1	3	0	2	1	3	2	4	1	3	3	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:61557382G>T	ENST00000537328.1	-	3	176	c.125C>A	c.(124-126)aCc>aAc	p.T42N	FEN1_ENST00000305885.2_5'Flank|MIR611_ENST00000384869.1_RNA|TMEM258_ENST00000543510.1_Missense_Mutation_p.T37N|TMEM258_ENST00000535042.1_5'UTR	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258	42						integral component of membrane (GO:0016021)		p.T42I(1)									CTTGGTAGAGGTGACCTCGTA	0.532																																																	1	Substitution - Missense(1)	breast(1)											101	77	86					11																	61557382		2202	4299	6501	SO:0001583	missense	0				CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 10"	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172	ENST00000537328.1:c.125C>A	11.37:g.61557382G>T	ENSP00000443216:p.Thr42Asn		A8K6L8|Q9D953|Q9Y2Q7	Missense_Mutation	SNP	pfam_UPF0197	p.T42N	ENST00000537328.1	37	c.125	CCDS8009.1	11	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884359	0.91814	.	.	ENSG00000134825	ENST00000537328;ENST00000543510	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.85173	0.0999	8	0.72032	D	0.01	.	19.1766	0.93604	0.0:0.0:1.0:0.0	.	42	P61165	CK010_HUMAN	N	42;37	.	ENSP00000257262:T42N	T	-	2	0	C11orf10	61313958	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	9.605000	0.98321	2.594000	0.87642	0.655000	0.94253	ACC	TMEM258	-	pfam_UPF0197	ENSG00000134825		0.532	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM258	HGNC	protein_coding	OTTHUMT00000398577.1		0	56	0	G	NM_014206		61557382	-1			no_errors	ENST00000257262	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T	T	61557382	G	T	61557382	3	4	182	1	0	0	0	0	1	0	0	0	1635	1261	44	3	118	3	C11orf10	11	61557382	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	28859880	61557382	73449134	163	45339											
CCDC88B	283234	genome.wustl.edu	37	chr11	64110768	64110768	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcgcgagaacctgctgCtgcgaacccggctgggcgag	7	4	15	15	5	0	1	0	0	0	1	0	4	0	1	3	2	6	3	3	2	2	0	rs371409114		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:64110768C>T	ENST00000356786.5	+	11	1224	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	394						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						GAACCTGCTGCTGCGAACCCG	0.677																																																	0													17	14	15					11																	64110768		2055	3979	6034	SO:0001819	synonymous_variant	0			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.1180C>T	11.37:g.64110768C>T			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	pfam_Hook-related_fam	p.L394	ENST00000356786.5	37	c.1180	CCDS8072.2	11																																																																																			CCDC88B	-	pfam_Hook-related_fam	ENSG00000168071		0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	-	0	36	0	C	NM_032251		64110768	1	tier1	-	no_errors	ENST00000356786	ensembl	human	known	74_37	silent	8.16	44	4	SNP	1.000	T	T	64110768	C	T	64110768	2	4	182	1	0	0	0	0	0	0	0	1	2871	796	28	3		3	CCDC88B	11	64110768	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	2553386	64110768	70895748	164	45340											
CDC42EP2	10435	genome.wustl.edu	37	chr11	65088922	65088922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccctgctgtccctgcacGtggacctggggccttccatc	3	10	11	17	1	0	0	0	0	0	0	4	1	3	1	5	3	2	3	5	3	0	1	rs145388901	byFrequency	TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:65088922G>A	ENST00000544348.1	+	2	1159	c.553G>A	c.(553-555)Gtg>Atg	p.V185M	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.V185M|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.V185M			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	185					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						GTCCCTGCACGTGGACCTGGG	0.617																																																	0								G	MET/VAL	6,4396	11.4+/-27.6	0,6,2195	63	62	62		553	4.2	1	11	dbSNP_134	62	0,8594		0,0,4297	yes	missense	CDC42EP2	NM_006779.3	21	0,6,6492	AA,AG,GG		0.0,0.1363,0.0462	possibly-damaging	185/211	65088922	6,12990	2201	4297	6498	SO:0001583	missense	0			AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"CRIB-containing BOGR1 protein"	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.553G>A	11.37:g.65088922G>A	ENSP00000442534:p.Val185Met		B2RD85|Q9UNS0	Missense_Mutation	SNP	pfam_CRIB_dom,smart_CRIB_dom,pirsf_Cdc42_effector_prot_2,pfscan_CRIB_dom	p.V185M	ENST00000544348.1	37	c.553	CCDS8099.1	11	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480769	0.63849	0.001363	0.0	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	T;T;T	0.35789	1.29;1.29;1.29	5.08	4.17	0.49024	.	0.091679	0.44483	D	0.000457	T	0.31136	0.0787	L	0.60455	1.87	0.37258	D	0.906878	P	0.49635	0.926	B	0.37091	0.241	T	0.41716	-0.9493	10	0.51188	T	0.08	-10.7325	11.3074	0.49342	0.0882:0.0:0.9118:0.0	.	185	O14613	BORG1_HUMAN	M	185	ENSP00000279249:V185M;ENSP00000431660:V185M;ENSP00000442534:V185M	ENSP00000279249:V185M	V	+	1	0	CDC42EP2	64845498	0.836000	0.29430	0.957000	0.39632	0.978000	0.69477	1.292000	0.33342	1.374000	0.46228	0.591000	0.81541	GTG	CDC42EP2	-	pirsf_Cdc42_effector_prot_2	ENSG00000149798		0.617	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP2	HGNC	protein_coding	OTTHUMT00000387258.1	-	0	38	0	G	NM_006779		65088922	1	tier1	rs145388901	no_errors	ENST00000279249	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.819	A	A	65088922	G	A	65088922	3	1	182	1	0	0	0	0	1	0	0	0	3083	1145	40	1	555	1	CDC42EP2	11	65088922	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	978154	65088922	69917594	165	45341											
CD248	57124	genome.wustl.edu	37	chr11	66082958	66082958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttggttgagatcatagggGgctggtgggcaggaggctgt	7	11	19	4	0	1	1	1	1	0	1	1	3	1	2	0	7	0	4	0	7	1	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:66082958G>T	ENST00000311330.3	-	1	1557	c.1541C>A	c.(1540-1542)cCc>cAc	p.P514H	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	514	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GATCATAGGGGGCTGGTGGGC	0.577																																																	0													77	82	80					11																	66082958		2200	4295	6495	SO:0001583	missense	0			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1541C>A	11.37:g.66082958G>T	ENSP00000308117:p.Pro514His		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin	p.P514H	ENST00000311330.3	37	c.1541	CCDS8134.1	11	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504400	0.64410	.	.	ENSG00000174807	ENST00000311330	D	0.93076	-3.16	4.44	0.273	0.15650	.	.	.	.	.	D	0.85647	0.5745	L	0.27053	0.805	0.09310	N	0.999999	B	0.15141	0.012	B	0.12156	0.007	T	0.74478	-0.3652	9	0.52906	T	0.07	-10.6789	3.5978	0.08013	0.3759:0.0:0.4543:0.1698	.	514	Q9HCU0	CD248_HUMAN	H	514	ENSP00000308117:P514H	ENSP00000308117:P514H	P	-	2	0	CD248	65839534	0.972000	0.33761	0.828000	0.32881	0.420000	0.31355	-0.203000	0.09438	0.138000	0.18790	0.460000	0.39030	CCC	CD248	-	NULL	ENSG00000174807		0.577	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD248	HGNC	protein_coding	OTTHUMT00000392922.2		0	48	0	G	NM_020404		66082958	-1			no_errors	ENST00000311330	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.020	T	T	66082958	G	T	66082958	3	4	182	1	0	0	0	0	1	0	0	0	2996	1232	43	3	736	3	CD248	11	66082958	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	994036	66082958	68923558	166	45342											
PITPNM1	9600	genome.wustl.edu	37	chr11	67260979	67260979	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gccgtgggggaagttgtgctGcgacagccatgccaccacgc	7	6	15	13	3	0	0	0	0	0	0	0	2	0	1	4	2	4	2	4	2	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:67260979G>T	ENST00000534749.1	-	21	3432	c.3244C>A	c.(3244-3246)Cag>Aag	p.Q1082K	PITPNM1_ENST00000356404.3_Missense_Mutation_p.Q1082K|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Missense_Mutation_p.Q1081K			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1082					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						AAGTTGTGCTGCGACAGCCAT	0.647																																					GBM(28;144 709 4607 5525)												0													32	32	32					11																	67260979		2183	4285	6468	SO:0001583	missense	0			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.3244C>A	11.37:g.67260979G>T	ENSP00000437286:p.Gln1082Lys		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.Q1082K	ENST00000534749.1	37	c.3244	CCDS31620.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.265350	0.95399	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.75938	-0.98;-0.98;-0.98	4.41	4.41	0.53225	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.148155	0.31872	N	0.006928	D	0.87485	0.6189	M	0.87900	2.915	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.76071	0.984;0.987	D	0.90030	0.4134	10	0.72032	D	0.01	-12.7974	15.9604	0.79926	0.0:0.0:1.0:0.0	.	1081;1082	O00562-2;O00562	.;PITM1_HUMAN	K	1082;1081;1082	ENSP00000437286:Q1082K;ENSP00000398787:Q1081K;ENSP00000348772:Q1082K	ENSP00000348772:Q1082K	Q	-	1	0	PITPNM1	67017555	1.000000	0.71417	0.978000	0.43139	0.963000	0.63663	9.808000	0.99193	2.178000	0.69098	0.491000	0.48974	CAG	PITPNM1	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000110697		0.647	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	HGNC	protein_coding	OTTHUMT00000395520.1		0	28	0	G	NM_004910		67260979	-1			no_errors	ENST00000356404	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	67260979	G	T	67260979	3	4	182	1	0	0	0	0	1	0	0	0	11989	1328	46	3	502	3	PITPNM1	11	67260979	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1178021	67260979	67745537	167	45343											
IGHMBP2	3508	genome.wustl.edu	37	chr11	68701368	68701368	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggaggaggacgaacagtcGaaagggaaccctggtgagct	13	4	17	7	2	0	1	0	1	0	0	1	8	0	5	1	5	3	1	1	5	3	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:68701368G>A	ENST00000255078.3	+	10	1635	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	508					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGAACAGTCGAAAGGGAACC	0.527																																																	0													62	62	62					11																	68701368		2197	4294	6491	SO:0001819	synonymous_variant	0			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1524G>A	11.37:g.68701368G>A			A0PJD2|Q00443|Q14177	Silent	SNP	pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put	p.S508	ENST00000255078.3	37	c.1524	CCDS8187.1	11																																																																																			IGHMBP2	-	superfamily_P-loop_NTPase,tigrfam_DNA_helicase_put	ENSG00000132740		0.527	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	-	0	100	0	G	NM_002180		68701368	1	tier1	-	no_errors	ENST00000255078	ensembl	human	known	74_37	silent	11.88	178	24	SNP	0.467	A	A	68701368	G	A	68701368	2	1	182	1	0	0	0	0	0	0	0	1	7618	1045	37	1		1	IGHMBP2	11	68701368	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1440389	68701368	66305148	168	45344											
LRRC32	2615	genome.wustl.edu	37	chr11	76371217	76371217	+	Missense_Mutation	SNP	A	A	C	1	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	ctccagcccaggattggaagAaaggtccagctcagtcagtg	11	7	12	11	0	2	1	2	0	0	1	4	3	4	3	3	3	2	1	3	3	2	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:76371217A>C	ENST00000407242.2	-	3	1662	c.1420T>G	c.(1420-1422)Tct>Gct	p.S474A	LRRC32_ENST00000404995.1_Missense_Mutation_p.S474A|LRRC32_ENST00000260061.5_Missense_Mutation_p.S474A|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	474					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						GGATTGGAAGAAAGGTCCAGC	0.647																																																	0													37	30	32					11																	76371217		2197	4292	6489	SO:0001583	missense	0			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.1420T>G	11.37:g.76371217A>C	ENSP00000384126:p.Ser474Ala		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.S474A	ENST00000407242.2	37	c.1420	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	A	15.68	2.903679	0.52333	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.06068	3.35;3.35;3.35	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.18257	0.0438	L	0.49571	1.57	0.54753	D	0.999985	D	0.76494	0.999	D	0.78314	0.991	T	0.01033	-1.1474	10	0.36615	T	0.2	.	13.981	0.64304	1.0:0.0:0.0:0.0	.	474	Q14392	LRC32_HUMAN	A	474	ENSP00000260061:S474A;ENSP00000384126:S474A;ENSP00000385766:S474A	ENSP00000260061:S474A	S	-	1	0	LRRC32	76048865	1.000000	0.71417	0.996000	0.52242	0.675000	0.39556	6.838000	0.75359	1.895000	0.54865	0.402000	0.26972	TCT	LRRC32	-	NULL	ENSG00000137507		0.647	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0	27	0	A	NM_005512		76371217	-1	tier1	-	no_errors	ENST00000260061	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	C	C	76371217	A	C	76371217	3	2	182	1	0	0	0	0	1	0	0	0	9022	246	9	4	572	4	LRRC32	11	76371217	Missense_Mutation	SNP	A	TCGA-Z6-A8JE-01A-11D-A37C-09	7669849	76371217	58635299	169	45345											
NDUFC2	4718	genome.wustl.edu	37	chr11	77790692	77790692	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagcagtagcccaagaagccGatgtagaggagccgcgggtc	11	4	16	10	3	0	2	0	0	0	2	1	5	0	3	3	2	4	3	3	2	4	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:77790692G>C	ENST00000281031.4	-	1	573	c.99C>G	c.(97-99)atC>atG	p.I33M	NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.I33M|NDUFC2_ENST00000528164.1_Missense_Mutation_p.I33M|NDUFC2_ENST00000527806.1_Missense_Mutation_p.I33M|NDUFC2_ENST00000525085.1_Missense_Mutation_p.I33M|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.I33M|NDUFC2_ENST00000534029.1_Missense_Mutation_p.I33M	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1	O95298	NDUC2_HUMAN	NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa	33					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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		Carvedilol(DB01136)	CCAAGAAGCCGATGTAGAGGA	0.672																																																	0													13	14	14					11																	77790692		2193	4286	6479	SO:0001583	missense	0			AF087659	CCDS8257.1, CCDS55779.1, CCDS55781.1	11q14.1	2011-07-04	2002-08-29		ENSG00000151366	ENSG00000151366		"Mitochondrial respiratory chain complex / Complex I"	7706	protein-coding gene	gene with protein product	"human lung cancer oncogene 1", "complex I subunit B14.5b"	603845	"NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 (14.5kD, B14.5b)"			9878551	Standard	NM_001204055		Approved	B14.5b, HLC-1		O95298		ENST00000281031.4:c.99C>G	11.37:g.77790692G>C	ENSP00000281031:p.Ile33Met		E9PNU8|E9PRB2|Q549M5|Q6FIH8|Q9UBJ9	Missense_Mutation	SNP	pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su	p.I33M	ENST00000281031.4	37	c.99	CCDS8257.1	11	.	.	.	.	.	.	.	.	.	.	G	7.365	0.625627	0.14257	.	.	ENSG00000259112;ENSG00000259112;ENSG00000151366;ENSG00000151366;ENSG00000151366;ENSG00000151366;ENSG00000151366;ENSG00000151366	ENST00000528251;ENST00000530054;ENST00000281031;ENST00000527806;ENST00000534029;ENST00000525085;ENST00000324742;ENST00000528164	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	4.79	-9.59	0.00556	.	2.572970	0.01171	N	0.006870	T	0.15696	0.0378	N	0.01352	-0.895	0.09310	N	1	B	0.15473	0.013	B	0.17098	0.017	T	0.21143	-1.0254	10	0.25751	T	0.34	.	4.6132	0.12413	0.138:0.4886:0.1215:0.2519	.	33	O95298	NDUC2_HUMAN	M	33	ENSP00000435967:I33M;ENSP00000432614:I33M;ENSP00000281031:I33M;ENSP00000432739:I33M;ENSP00000432253:I33M;ENSP00000434262:I33M;ENSP00000435017:I33M	ENSP00000281031:I33M	I	-	3	3	NDUFC2;RP11-7I15.5	77468340	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.161000	0.00577	-2.457000	0.00539	-0.230000	0.12252	ATC	NDUFC2	-	pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su	ENSG00000151366		0.672	NDUFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFC2	HGNC	protein_coding	OTTHUMT00000390821.1	-	0	25	0	G	NM_004549		77790692	-1	tier1	-	no_errors	ENST00000281031	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.000	C	C	77790692	G	C	77790692	3	2	182	1	0	0	0	0	1	0	0	0	10329	1048	37	5	272	5	NDUFC2	11	77790692	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1419475	77790692	57215824	170	45346											
KDM4D	55693	genome.wustl.edu	37	chr11	94730891	94730891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccaccacaccagaatttcGaagatttggagcgaaaatac	15	8	7	11	2	0	2	0	0	0	2	2	5	1	3	3	1	2	0	3	1	5	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:94730891G>A	ENST00000335080.5	+	3	1187	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	KDM4D_ENST00000536741.1_Missense_Mutation_p.E119K	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	119					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCAGAATTTCGAAGATTTGGA	0.393																																																	0													88	87	87					11																	94730891		2201	4298	6499	SO:0001583	missense	0			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.355G>A	11.37:g.94730891G>A	ENSP00000334181:p.Glu119Lys		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E119K	ENST00000335080.5	37	c.355	CCDS8302.1	11	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261520	0.59431	.	.	ENSG00000186280	ENST00000335080	T	0.30981	1.51	4.57	1.49	0.22878	.	0.239591	0.32624	U	0.005850	T	0.27765	0.0683	M	0.67397	2.05	0.41880	D	0.99031	B	0.25048	0.117	B	0.16289	0.015	T	0.07102	-1.0790	10	0.45353	T	0.12	-13.3241	8.6094	0.33793	0.0844:0.2874:0.6282:0.0	.	119	Q6B0I6	KDM4D_HUMAN	K	119	ENSP00000334181:E119K	ENSP00000334181:E119K	E	+	1	0	KDM4D	94370539	1.000000	0.71417	0.008000	0.14137	0.435000	0.31806	2.932000	0.48940	0.199000	0.20427	0.563000	0.77884	GAA	KDM4D	-	NULL	ENSG00000186280		0.393	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4D	HGNC	protein_coding	OTTHUMT00000396558.2	-	0	36	0	G	NM_018039		94730891	1	tier1	-	no_errors	ENST00000335080	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.974	A	A	94730891	G	A	94730891	3	1	182	1	0	0	0	0	1	0	0	0	8158	1059	37	1	357	1	KDM4D	11	94730891	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	16940199	94730891	40275625	171	45347											
MMP13	4322	genome.wustl.edu	37	chr11	102815028	102815028	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaatttgctggcatgacGcgaacaatacggttactcca	12	10	10	9	3	0	1	0	1	0	0	1	3	1	2	1	3	4	3	1	3	5	3	rs374512736		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:102815028G>A	ENST00000260302.3	-	10	1411	c.1383C>T	c.(1381-1383)cgC>cgT	p.R461R		NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	461	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	CTGGCATGACGCGAACAATAC	0.358																																																	0								G		0,4404		0,0,2202	137	150	146		1383	-12	0.2	11		146	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	MMP13	NM_002427.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		461/472	102815028	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	0			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1383C>T	11.37:g.102815028G>A			A8K846|B2RCZ3|Q6NWN6	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.R461	ENST00000260302.3	37	c.1383	CCDS8324.1	11																																																																																			MMP13	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans	ENSG00000137745		0.358	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MMP13	HGNC	protein_coding	OTTHUMT00000386648.1	-	0	40	0	G	NM_002427		102815028	-1	tier1	-	no_errors	ENST00000260302	ensembl	human	novel	74_37	silent	33.33	26	13	SNP	0.003	A	A	102815028	G	A	102815028	2	1	182	1	0	0	0	0	0	0	0	1	9690	1074	38	1		1	MMP13	11	102815028	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	8084137	102815028	32191488	172	45348											
RAB39	54734	genome.wustl.edu	37	chr11	107799511	107799511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgggacacggcgggacagGagcggttcaggtagggaccc	8	5	18	10	3	2	0	1	0	1	0	2	4	2	4	1	7	1	2	1	7	1	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:107799511G>A	ENST00000320578.2	+	1	283	c.217G>A	c.(217-219)Gag>Aag	p.E73K	SLC35F2_ENST00000429869.1_5'Flank|SLC35F2_ENST00000525071.1_5'Flank	NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	73					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										GGCGGGACAGGAGCGGTTCAG	0.736																																																	0													18	18	18					11																	107799511		2194	4296	6490	SO:0001583	missense	0			X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"RAB, member RAS oncogene"	16521	protein-coding gene	gene with protein product	"rab-related GTP-binding protein"		"RAB39, member RAS oncogene family"	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.217G>A	11.37:g.107799511G>A	ENSP00000322594:p.Glu73Lys		A8KAA4|Q8N6W2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E73K	ENST00000320578.2	37	c.217	CCDS8338.1	11	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976394	0.92982	.	.	ENSG00000179331	ENST00000320578	D	0.83992	-1.79	4.76	4.76	0.60689	Small GTP-binding protein domain (1);	0.287098	0.26859	N	0.022125	D	0.89136	0.6629	H	0.97783	4.075	0.58432	D	0.999998	P	0.39311	0.667	B	0.34418	0.182	D	0.92733	0.6201	10	0.87932	D	0	.	17.0468	0.86505	0.0:0.0:1.0:0.0	.	73	Q14964	RB39A_HUMAN	K	73	ENSP00000322594:E73K	ENSP00000322594:E73K	E	+	1	0	RAB39	107304721	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.321000	0.96353	2.628000	0.89032	0.555000	0.69702	GAG	RAB39A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000179331		0.736	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB39A	HGNC	protein_coding	OTTHUMT00000389423.1	-	0	131	0	G	NM_017516		107799511	1	tier1	-	no_errors	ENST00000320578	ensembl	human	known	74_37	missense	63.46	38	66	SNP	1.000	A	A	107799511	G	A	107799511	3	1	182	1	0	0	0	0	1	0	0	0	12974	1175	41	3	219	3	RAB39	11	107799511	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	4984483	107799511	27207005	173	45349											
LAYN	143903	genome.wustl.edu	37	chr11	111430916	111430916	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctagaggtctacaatgtCataagaaaacaaagcgaagc	18	6	9	8	1	2	2	1	0	1	2	2	4	2	2	1	1	4	0	1	1	8	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:111430916C>G	ENST00000375615.3	+	8	1067	c.882C>G	c.(880-882)gtC>gtG	p.V294V	LAYN_ENST00000375614.2_Silent_p.V286V|LAYN_ENST00000436913.2_Silent_p.V141V|LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000533265.1_3'UTR	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	294						cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	TCTACAATGTCATAAGAAAAC	0.517																																					Ovarian(17;551 586 12136 22082 22900)												0													71	72	72					11																	111430916		2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.882C>G	11.37:g.111430916C>G			A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.V294	ENST00000375615.3	37	c.882	CCDS58178.1	11																																																																																			LAYN	-	NULL	ENSG00000204381		0.517	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAYN	HGNC	protein_coding	OTTHUMT00000391187.1	-	0	43	0	C	NM_178834		111430916	1	tier1	-	no_errors	ENST00000375615	ensembl	human	known	74_37	silent	11.11	24	3	SNP	1.000	G	G	111430916	C	G	111430916	2	3	182	1	0	0	0	0	0	0	0	1	8677	813	29	5		5	LAYN	11	111430916	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	3631405	111430916	23575600	174	45350											
PIH1D2	120379	genome.wustl.edu	37	chr11	111941292	111941292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcatcttcatctccacCtggatttcagtactggaaat	9	13	8	11	0	4	0	2	0	2	0	5	2	4	2	2	3	1	3	2	3	2	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:111941292C>G	ENST00000280350.4	-	5	903	c.681G>C	c.(679-681)caG>caC	p.Q227H	PIH1D2_ENST00000532211.1_Missense_Mutation_p.Q227H|PIH1D2_ENST00000530641.1_Missense_Mutation_p.Q227H|PIH1D2_ENST00000528775.1_Missense_Mutation_p.Q227H|PIH1D2_ENST00000521853.2_5'Flank|PIH1D2_ENST00000431456.1_Missense_Mutation_p.Q227H	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	227										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)		TCATCTCCACCTGGATTTCAG	0.393																																																	0													176	177	177					11																	111941292		2201	4297	6498	SO:0001583	missense	0			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.681G>C	11.37:g.111941292C>G	ENSP00000280350:p.Gln227His		B4DU48|E9PD82	Missense_Mutation	SNP	pfam_PIH	p.Q227H	ENST00000280350.4	37	c.681	CCDS8355.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.655|8.655	0.899066|0.899066	0.17686|0.17686	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000525072|ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641	.|T;T;T;T;T	.|0.18810	.|2.19;2.19;2.19;2.19;2.19	5.72|5.72	-4.83|-4.83	0.03161|0.03161	.|.	.|0.752000	.|0.13317	.|N	.|0.397016	T|T	0.25717|0.25717	0.0626|0.0626	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.48162	.|0.484;0.773;0.906	.|B;B;P	.|0.52514	.|0.445;0.445;0.701	T|T	0.09292|0.09292	-1.0681|-1.0681	5|10	.|0.39692	.|T	.|0.17	0.161|0.161	4.4307|4.4307	0.11525|0.11525	0.0961:0.3221:0.0953:0.4865|0.0961:0.3221:0.0953:0.4865	.|.	.|227;227;227	.|B4DU48;E9PD82;Q8WWB5	.|.;.;PIHD2_HUMAN	R|H	183|227	.|ENSP00000434275:Q227H;ENSP00000388209:Q227H;ENSP00000431841:Q227H;ENSP00000280350:Q227H;ENSP00000431147:Q227H	.|ENSP00000280350:Q227H	G|Q	-|-	1|3	0|2	PIH1D2|PIH1D2	111446502|111446502	0.189000|0.189000	0.23263|0.23263	0.002000|0.002000	0.10522|0.10522	0.003000|0.003000	0.03518|0.03518	0.021000|0.021000	0.13489|0.13489	-0.463000|-0.463000	0.06973|0.06973	-1.087000|-1.087000	0.02190|0.02190	GGT|CAG	PIH1D2	-	pfam_PIH	ENSG00000150773		0.393	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D2	HGNC	protein_coding	OTTHUMT00000391916.1	-	0	47	0	C	NM_138789		111941292	-1	tier1	-	no_errors	ENST00000280350	ensembl	human	known	74_37	missense	67.35	16	33	SNP	0.000	G	G	111941292	C	G	111941292	3	3	182	1	0	0	0	0	1	0	0	0	11946	680	24	5	332	5	PIH1D2	11	111941292	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	510376	111941292	23065224	175	45351											
TECTA	7007	genome.wustl.edu	37	chr11	120973431	120973431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcttcgcacttgtacaGcaccaaggtgagtactacag	11	11	8	11	1	2	1	1	1	1	0	3	1	2	1	1	1	4	4	1	1	4	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr11:120973431G>T	ENST00000392793.1	+	2	328	c.57G>T	c.(55-57)caG>caT	p.Q19H	TECTA_ENST00000264037.2_Missense_Mutation_p.Q19H			O75443	TECTA_HUMAN	tectorin alpha	19			Q -> R (in dbSNP:rs35507522).		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)		CACTTGTACAGCACCAAGGTG	0.368																																																	0													142	149	146					11																	120973431		2203	4299	6502	SO:0001583	missense	0			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.57G>T	11.37:g.120973431G>T	ENSP00000376543:p.Gln19His			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.Q19H	ENST00000392793.1	37	c.57	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075348	0.36662	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.36878	1.23;1.23	5.22	5.22	0.72569	.	0.986647	0.08299	N	0.967271	T	0.27594	0.0678	N	0.14661	0.345	0.21020	N	0.999802	B	0.22480	0.07	B	0.25140	0.058	T	0.12915	-1.0529	10	0.38643	T	0.18	.	13.461	0.61227	0.0755:0.0:0.9245:0.0	.	19	O75443	TECTA_HUMAN	H	19	ENSP00000376543:Q19H;ENSP00000264037:Q19H	ENSP00000264037:Q19H	Q	+	3	2	TECTA	120478641	0.991000	0.36638	1.000000	0.80357	0.972000	0.66771	2.168000	0.42424	2.584000	0.87258	0.655000	0.94253	CAG	TECTA	-	NULL	ENSG00000109927		0.368	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0	48	0	G	NM_005422		120973431	1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.999	T	T	120973431	G	T	120973431	3	4	182	1	0	0	0	0	1	0	0	0	15794	962	34	3	59	3	TECTA	11	120973431	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	9032139	120973431	14033085	176	45352											
CNTN1	1272	genome.wustl.edu	37	chr12	41333274	41333274	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	gtaaagggacagagtggcttGtcaatagcagcaggtcagtg	12	8	15	6	0	2	1	2	0	0	1	2	2	2	2	0	3	2	4	0	3	4	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr12:41333274G>T	ENST00000551295.2	+	12	1483	c.1366G>T	c.(1366-1368)Gtc>Ttc	p.V456F	CNTN1_ENST00000360099.3_Missense_Mutation_p.V456F|CNTN1_ENST00000547849.1_Missense_Mutation_p.V456F|CNTN1_ENST00000347616.1_Missense_Mutation_p.V456F|CNTN1_ENST00000348761.2_Missense_Mutation_p.V445F|CNTN1_ENST00000547702.1_Missense_Mutation_p.V456F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	456	Ig-like C2-type 5.				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)				AGAGTGGCTTGTCAATAGCAG	0.363																																																	0													72	71	72					12																	41333274		2203	4300	6503	SO:0001583	missense	0			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.1366G>T	12.37:g.41333274G>T	ENSP00000447006:p.Val456Phe		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V456F	ENST00000551295.2	37	c.1366	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	3.023	-0.201396	0.06219	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	4.98	4.98	0.66077	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.349986	0.30742	N	0.008976	T	0.50394	0.1613	N	0.25380	0.74	0.35090	D	0.76425	B;B;B	0.14012	0.002;0.007;0.009	B;B;B	0.18263	0.007;0.012;0.021	T	0.54330	-0.8310	10	0.24483	T	0.36	.	9.8909	0.41290	0.1548:0.0:0.8452:0.0	.	456;445;456	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	F	456;456;456;456;456;445	ENSP00000448004:V456F;ENSP00000447006:V456F;ENSP00000448653:V456F;ENSP00000325660:V456F;ENSP00000353213:V456F;ENSP00000261160:V445F	ENSP00000325660:V456F	V	+	1	0	CNTN1	39619541	0.994000	0.37717	0.999000	0.59377	0.790000	0.44656	2.276000	0.43408	2.689000	0.91719	0.561000	0.74099	GTC	CNTN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000018236		0.363	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2		0	44	0	G	NM_001843		41333274	1			no_errors	ENST00000347616	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.984	T	T	41333274	G	T	41333274	3	4	182	1	0	0	0	0	1	0	0	0	3647	1377	48	3	1408	3	CNTN1	12	41333274	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		41333274	92518621	177	45353											
TUBA1A	7846	genome.wustl.edu	37	chr12	49578864	49578864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctcctcataatccttctCaagggcagccatgtcctcac	10	10	5	16	0	3	0	3	0	1	0	7	0	6	0	5	1	2	1	5	1	3	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr12:49578864C>G	ENST00000295766.5	-	4	1764	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q	TUBA1A_ENST00000550767.1_Missense_Mutation_p.E394Q|TUBA1A_ENST00000301071.7_Missense_Mutation_p.E429Q	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	429					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TAATCCTTCTCAAGGGCAGCC	0.493																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)												0													153	152	152					12																	49578864		2203	4300	6503	SO:0001583	missense	0			AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"Tubulins"	20766	protein-coding gene	gene with protein product	"tubulin, alpha, brain-specific"	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1285G>C	12.37:g.49578864C>G	ENSP00000439020:p.Glu429Gln		A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.E429Q	ENST00000295766.5	37	c.1285	CCDS58227.1	12	.	.	.	.	.	.	.	.	.	.	c	14.56	2.573199	0.45902	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.84223	-1.82;-1.82;-1.82	5.51	4.62	0.57501	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.067420	0.56097	D	0.000030	D	0.91862	0.7424	M	0.85462	2.755	0.80722	D	1	D	0.59357	0.985	D	0.63283	0.913	D	0.92864	0.6308	10	0.87932	D	0	.	13.3715	0.60715	0.0:0.923:0.0:0.077	.	429	Q71U36	TBA1A_HUMAN	Q	429;160;276;429;394	ENSP00000301071:E429Q;ENSP00000439020:E429Q;ENSP00000446637:E394Q	ENSP00000439020:E429Q	E	-	1	0	TUBA1A	47865131	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	7.442000	0.80503	1.324000	0.45282	0.655000	0.94253	GAG	TUBA1A	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin	ENSG00000167552		0.493	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	TUBA1A	HGNC	protein_coding	OTTHUMT00000404547.2	-	0	148	0	C	NM_006009		49578864	-1	tier1	-	no_errors	ENST00000301071	ensembl	human	known	74_37	missense	14.21	155	26	SNP	1.000	G	G	49578864	C	G	49578864	3	3	182	1	0	0	0	0	1	0	0	0	16792	835	29	5	74	5	TUBA1A	12	49578864	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	8245590	49578864	84273031	178	45354											
TUBA1A	7846	genome.wustl.edu	37	chr12	49578975	49578975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catcaggtcaaacttgtggtCcaggcgagcccaggcctcag	9	7	12	13	1	3	0	3	0	0	0	4	1	4	0	3	4	2	0	3	4	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr12:49578975C>G	ENST00000295766.5	-	4	1653	c.1174G>C	c.(1174-1176)Gac>Cac	p.D392H	TUBA1A_ENST00000550767.1_Missense_Mutation_p.D357H|TUBA1A_ENST00000301071.7_Missense_Mutation_p.D392H	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	392					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	AACTTGTGGTCCAGGCGAGCC	0.577																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)												0													109	95	99					12																	49578975		2203	4298	6501	SO:0001583	missense	0			AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"Tubulins"	20766	protein-coding gene	gene with protein product	"tubulin, alpha, brain-specific"	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1174G>C	12.37:g.49578975C>G	ENSP00000439020:p.Asp392His		A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.D392H	ENST00000295766.5	37	c.1174	CCDS58227.1	12	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905494	0.52333	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.84146	-1.81;-1.81;-1.81	5.51	5.51	0.81932	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	M	0.92784	3.345	0.80722	D	1	D	0.63880	0.993	D	0.76071	0.987	D	0.95339	0.8436	10	0.87932	D	0	.	18.2109	0.89869	0.0:1.0:0.0:0.0	.	392	Q71U36	TBA1A_HUMAN	H	392;123;239;392;357	ENSP00000301071:D392H;ENSP00000439020:D392H;ENSP00000446637:D357H	ENSP00000439020:D392H	D	-	1	0	TUBA1A	47865242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.581000	0.87130	0.655000	0.94253	GAC	TUBA1A	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000167552		0.577	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	TUBA1A	HGNC	protein_coding	OTTHUMT00000404547.2	-	0	121	0	C	NM_006009		49578975	-1	tier1	-	no_errors	ENST00000301071	ensembl	human	known	74_37	missense	20.61	104	27	SNP	1.000	G	G	49578975	C	G	49578975	3	3	182	1	0	0	0	0	1	0	0	0	16792	855	30	5	185	5	TUBA1A	12	49578975	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	111	49578975	84272920	179	45355											
POU6F1	5463	genome.wustl.edu	37	chr12	51584241	51584241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgcggcgtttgcgtttcttgGagggctcgcctcccacaaac	5	11	12	13	4	1	0	0	0	1	0	3	1	2	1	2	3	3	3	2	3	1	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr12:51584241G>C	ENST00000389243.4	-	11	1634	c.695C>G	c.(694-696)tCc>tGc	p.S232C	POU6F1_ENST00000333640.10_Missense_Mutation_p.S232C|POU6F1_ENST00000550824.1_Missense_Mutation_p.S232C			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	232					brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GCGTTTCTTGGAGGGCTCGCC	0.562																																																	0													144	137	139					12																	51584241		2203	4300	6503	SO:0001583	missense	0			AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"Homeoboxes / POU class"	9224	protein-coding gene	gene with protein product			"POU domain, class 6, transcription factor 1"			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.695C>G	12.37:g.51584241G>C	ENSP00000373895:p.Ser232Cys		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.S232C	ENST00000389243.4	37	c.695	CCDS31803.1	12	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025252	0.93518	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.95724	-3.79;-3.79;-3.79	5.43	5.43	0.79202	Homeodomain-related (1);Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.96448	0.8841	L	0.55103	1.725	0.80722	D	1	D	0.54047	0.964	P	0.57911	0.829	D	0.96914	0.9669	10	0.87932	D	0	.	18.0148	0.89236	0.0:0.0:1.0:0.0	.	232	Q14863	PO6F1_HUMAN	C	232	ENSP00000373895:S232C;ENSP00000330190:S232C;ENSP00000448389:S232C	ENSP00000330190:S232C	S	-	2	0	POU6F1	49870508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.673000	0.74482	2.553000	0.86117	0.561000	0.74099	TCC	POU6F1	-	pfscan_Homeobox_dom	ENSG00000184271		0.562	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU6F1	HGNC	protein_coding	OTTHUMT00000405126.1	-	0	51	0	G	NM_002702		51584241	-1	tier1	-	no_errors	ENST00000333640	ensembl	human	known	74_37	missense	12.50	49	7	SNP	1.000	C	C	51584241	G	C	51584241	3	2	182	1	0	0	0	0	1	0	0	0	12323	1174	41	5	214	5	POU6F1	12	51584241	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	2005266	51584241	82267654	180	45356											
TIMELESS	8914	genome.wustl.edu	37	chr12	56814440	56814440	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcctcattttcctctgtGagtggcaccaatggaacggc	7	12	10	12	1	2	1	1	1	1	0	4	2	4	2	3	3	1	2	3	3	2	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr12:56814440G>A	ENST00000553532.1	-	26	3291	c.3141C>T	c.(3139-3141)ctC>ctT	p.L1047L	TIMELESS_ENST00000554616.1_Silent_p.L544L|TIMELESS_ENST00000229201.4_Silent_p.L1046L					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTTCCTCTGTGAGTGGCACCA	0.522																																																	0													112	94	100					12																	56814440		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3141C>T	12.37:g.56814440G>A				Silent	SNP	pfam_TIMELESS_C,pfam_Timeless	p.L1047	ENST00000553532.1	37	c.3141	CCDS8918.1	12																																																																																			TIMELESS	-	pfam_TIMELESS_C	ENSG00000111602		0.522	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	-	0	66	0	G	NM_003920		56814440	-1	tier1	-	no_errors	ENST00000553532	ensembl	human	known	74_37	silent	19.15	76	18	SNP	1.000	A	A	56814440	G	A	56814440	2	1	182	1	0	0	0	0	0	0	0	1	15951	1277	45	3		3	TIMELESS	12	56814440	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	5230199	56814440	77037455	181	45357											
GRIP1	23426	genome.wustl.edu	37	chr12	66838411	66838411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaccttgctcgtgattgaaGagtctcggaggagctgactg	8	11	14	8	2	1	5	0	4	1	1	3	7	1	7	1	2	2	2	1	2	1	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr12:66838411G>A	ENST00000398016.3	-	12	1552	c.1484C>T	c.(1483-1485)tCt>tTt	p.S495F	GRIP1_ENST00000286445.7_Missense_Mutation_p.S547F|GRIP1_ENST00000359742.4_Missense_Mutation_p.S547F	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	246					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)		CGTGATTGAAGAGTCTCGGAG	0.458																																																	0													121	122	121					12																	66838411		1960	4144	6104	SO:0001583	missense	0			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.1484C>T	12.37:g.66838411G>A	ENSP00000381098:p.Ser495Phe		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S547F	ENST00000398016.3	37	c.1640	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.561847|4.561847	0.86335|0.86335	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51;1.51;1.51	5.61|5.61	5.61|5.61	0.85477|0.85477	.|PDZ/DHR/GLGF (4);	.|0.119122	.|0.64402	.|D	.|0.000015	T|T	0.62417|0.62417	0.2426|0.2426	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.71674	.|0.996;0.997;0.996;0.998	.|D;D;D;D	.|0.76071	.|0.974;0.985;0.987;0.983	T|T	0.65331|0.65331	-0.6194|-0.6194	5|9	.|.	.|.	.|.	-12.1286|-12.1286	19.6387|19.6387	0.95748|0.95748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|495;547;495;547	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	F|F	362|495;547;547;495;439;387	.|ENSP00000381098:S495F;ENSP00000352780:S547F;ENSP00000286445:S547F;ENSP00000446047:S495F;ENSP00000446024:S439F;ENSP00000446011:S387F	.|.	L|S	-|-	1|2	0|0	GRIP1|GRIP1	65124678|65124678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	9.476000|9.476000	0.97823|0.97823	2.641000|2.641000	0.89580|0.89580	0.544000|0.544000	0.68410|0.68410	CTT|TCT	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000155974		0.458	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	-	0	74	0	G			66838411	-1	tier1	-	no_errors	ENST00000359742	ensembl	human	known	74_37	missense	6.06	93	6	SNP	1.000	A	A	66838411	G	A	66838411	3	1	182	1	0	0	0	0	1	0	0	0	6814	942	33	3	1798	3	GRIP1	12	66838411	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	10023971	66838411	67013484	182	45358											
TMPO	7112	genome.wustl.edu	37	chr12	98938017	98938017	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttgaatagagctattctCaagctggaataactgagact	13	12	9	7	0	1	3	1	2	1	2	2	5	1	4	0	1	4	3	0	1	6	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr12:98938017C>G	ENST00000556029.1	+	5	1029	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	225	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						GAGCTATTCTCAAGCTGGAAT	0.403																																																	0													71	72	72					12																	98938017		2203	4300	6503	SO:0001583	missense	0				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.673C>G	12.37:g.98938017C>G	ENSP00000450627:p.Gln225Glu		A2T926|Q14861	Missense_Mutation	SNP	pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom	p.Q225E	ENST00000556029.1	37	c.673	CCDS31879.1	12	.	.	.	.	.	.	.	.	.	.	C	4.296	0.054123	0.08291	.	.	ENSG00000120802	ENST00000556029	T	0.58060	0.36	5.75	4.86	0.63082	.	.	.	.	.	T	0.33411	0.0862	N	0.16368	0.405	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21724	-1.0237	9	0.02654	T	1	.	15.3477	0.74355	0.0:0.7369:0.2631:0.0	.	225	P42167	LAP2B_HUMAN	E	225	ENSP00000450627:Q225E	ENSP00000340251:Q225E	Q	+	1	0	TMPO	97462148	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.572000	0.45999	1.406000	0.46857	0.591000	0.81541	CAA	TMPO	-	NULL	ENSG00000120802		0.403	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2		0	41	0	C	NM_003276		98938017	1			no_errors	ENST00000556029	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	G	G	98938017	C	G	98938017	3	3	182	1	0	0	0	0	1	0	0	0	16284	827	29	5	2215	5	TMPO	12	98938017	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	32099606	98938017	34913878	183	45359											
TDG	6996	genome.wustl.edu	37	chr12	104373677	104373677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccagtggaacccaaaaaaCctgttgagtcaaaaaaatct	19	7	6	9	0	2	1	1	1	1	0	2	2	2	2	3	1	3	1	3	1	8	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr12:104373677C>A	ENST00000392872.3	+	3	469	c.235C>A	c.(235-237)Cct>Act	p.P79T	TDG_ENST00000544861.1_De_novo_Start_OutOfFrame|TDG_ENST00000542036.1_5'Flank|TDG_ENST00000266775.9_Missense_Mutation_p.P75T	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	79					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		ACCCAAAAAACCTGTTGAGTC	0.323								Base excision repair (BER), DNA glycosylases																																									0													66	68	67					12																	104373677		2203	4300	6503	SO:0001583	missense	0			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.235C>A	12.37:g.104373677C>A	ENSP00000376611:p.Pro79Thr		Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase	p.P79T	ENST00000392872.3	37	c.235	CCDS9095.1	12	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091429	0.36952	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000537100	T;T;T	0.46063	2.21;2.2;0.88	5.19	2.27	0.28462	.	0.226724	0.46758	D	0.000280	T	0.42698	0.1214	L	0.57536	1.79	0.47476	D	0.999435	P;B;B	0.49358	0.923;0.004;0.004	P;B;B	0.47891	0.56;0.002;0.002	T	0.30357	-0.9981	10	0.52906	T	0.07	-2.918	8.4486	0.32858	0.0:0.7321:0.1267:0.1411	.	79;79;79	B4DSN7;B2R848;Q13569	.;.;TDG_HUMAN	T	79;54;75;79	ENSP00000376611:P79T;ENSP00000266775:P75T;ENSP00000439825:P79T	ENSP00000266775:P75T	P	+	1	0	TDG	102897807	0.924000	0.31332	0.018000	0.16275	0.924000	0.55760	2.609000	0.46317	0.581000	0.29539	0.650000	0.86243	CCT	TDG	-	tigrfam_Thymine-DNA_glycosylase	ENSG00000139372		0.323	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDG	HGNC	protein_coding	OTTHUMT00000399673.2	-	0	29	0	C			104373677	1	tier1	rs147763309	no_errors	ENST00000392872	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.901	A	A	104373677	C	A	104373677	3	1	182	1	0	0	0	0	1	0	0	0	15772	507	18	3	245	3	TDG	12	104373677	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	5435660	104373677	29478218	184	45360											
TMEM132D	121256	genome.wustl.edu	37	chr12	129569203	129569203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacgttgaccttgcctttCatttctttcccattgacaaa	9	15	4	13	1	2	2	1	2	1	0	3	2	3	2	4	0	1	1	4	0	1	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr12:129569203C>G	ENST00000422113.2	-	6	1814	c.1488G>C	c.(1486-1488)atG>atC	p.M496I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.M34I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	496					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTTGCCTTTCATTTCTTTCC	0.542																																																	0													124	95	105					12																	129569203		2203	4300	6503	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1488G>C	12.37:g.129569203C>G	ENSP00000408581:p.Met496Ile		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.M496I	ENST00000422113.2	37	c.1488	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	c	11.93	1.784440	0.31593	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.47528	0.84;0.84	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	L	0.41710	1.295	0.45747	D	0.998648	D;P	0.56035	0.974;0.594	P;B	0.50659	0.647;0.39	T	0.47484	-0.9114	9	.	.	.	-70.0423	17.8083	0.88608	0.0:1.0:0.0:0.0	.	496;34	Q14C87;Q14C87-2	T132D_HUMAN;.	I	34;496	ENSP00000374092:M34I;ENSP00000408581:M496I	.	M	-	3	0	TMEM132D	128135156	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	2.559000	0.45888	2.181000	0.69327	0.556000	0.70494	ATG	TMEM132D	-	NULL	ENSG00000151952		0.542	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1		0	65	0	C	NM_133448		129569203	-1			no_errors	ENST00000422113	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	G	G	129569203	C	G	129569203	3	3	182	1	0	0	0	0	1	0	0	0	16094	826	29	5	1827	5	TMEM132D	12	129569203	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	25195526	129569203	4282692	185	45361											
GJB6	10804	genome.wustl.edu	37	chr13	20797357	20797357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcatggccaccagcagcGctggggtggagacgaagatc	10	5	15	11	2	0	2	0	0	0	2	1	4	0	2	2	4	3	3	2	4	1	0	rs28937872		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr13:20797357G>A	ENST00000356192.6	-	5	883	c.263C>T	c.(262-264)gCg>gTg	p.A88V	GJB6_ENST00000241124.6_Missense_Mutation_p.A88V|GJB6_ENST00000400066.3_Missense_Mutation_p.A88V|GJB6_ENST00000400065.3_Missense_Mutation_p.A88V	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	88			A -> V (in ECTD2; dbSNP:rs28937872). {ECO:0000269|PubMed:11017065}.		apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)		p.A88V(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CACCAGCAGCGCTGGGGTGGA	0.542																																																	1	Substitution - Missense(1)	endometrium(1)	GRCh37	CM002606	GJB6	M	rs28937872						54	47	49					13																	20797357		2203	4300	6503	SO:0001583	missense	0			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"Ion channels / Gap junction proteins (connexins)"	4288	protein-coding gene	gene with protein product	"connexin 30"	604418	"ectodermal dysplasia 2, hidrotic (Clouston syndrome)", "gap junction protein, beta 6 (connexin 30)", "gap junction protein, beta 6"	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.263C>T	13.37:g.20797357G>A	ENSP00000348521:p.Ala88Val		B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.A88V	ENST00000356192.6	37	c.263	CCDS9291.1	13	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960559	0.92791	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99121	-5.45;-5.45;-5.45;-5.45	5.28	5.28	0.74379	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	M	0.83692	2.655	0.80722	A	1	D	0.89917	1.0	D	0.74674	0.984	D	0.99387	1.0924	9	0.87932	D	0	.	18.9412	0.92605	0.0:0.0:1.0:0.0	rs28937872	88	O95452	CXB6_HUMAN	V	88	ENSP00000241124:A88V;ENSP00000382938:A88V;ENSP00000382939:A88V;ENSP00000348521:A88V	ENSP00000241124:A88V	A	-	2	0	GJB6	19695357	1.000000	0.71417	0.710000	0.30468	0.697000	0.40408	9.562000	0.98145	2.450000	0.82876	0.655000	0.94253	GCG	GJB6	-	pfam_Connexin_N,prints_Connexin	ENSG00000121742		0.542	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB6	HGNC	protein_coding	OTTHUMT00000272906.1		0	40	0	G			20797357	-1			no_errors	ENST00000241124	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.991	A	A	20797357	G	A	20797357	3	1	182	1	0	0	0	0	1	0	0	0	6438	1087	38	1	526	1	GJB6	13	20797357	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		20797357	94372521	186	45362											
LATS2	26524	genome.wustl.edu	37	chr13	21557918	21557918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagaggatcttccgcatctGctcctgctcagcttcacaga	8	11	9	13	1	4	2	2	0	2	2	6	3	6	3	2	1	3	5	2	1	1	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr13:21557918G>T	ENST00000382592.4	-	5	2332	c.1927C>A	c.(1927-1929)Cag>Aag	p.Q643K	LATS2_ENST00000542899.1_Missense_Mutation_p.Q643K	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.Q643E(4)		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)		TTCCGCATCTGCTCCTGCTCA	0.458																																																	4	Substitution - Missense(4)	lung(4)											69	74	72					13																	21557918		2203	4300	6503	SO:0001583	missense	0			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.1927C>A	13.37:g.21557918G>T	ENSP00000372035:p.Gln643Lys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.Q643K	ENST00000382592.4	37	c.1927	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647893	0.67358	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.44881	0.91;0.91	5.19	5.19	0.71726	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000002	T	0.47021	0.1423	M	0.66378	2.025	0.80722	D	1	P	0.37824	0.609	B	0.37550	0.253	T	0.52668	-0.8545	10	0.59425	D	0.04	.	18.9571	0.92662	0.0:0.0:1.0:0.0	.	643	Q9NRM7	LATS2_HUMAN	K	643	ENSP00000372035:Q643K;ENSP00000441817:Q643K	ENSP00000372035:Q643K	Q	-	1	0	LATS2	20455918	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.202000	0.95026	2.709000	0.92574	0.555000	0.69702	CAG	LATS2	-	superfamily_Kinase-like_dom	ENSG00000150457		0.458	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1		0	23	0	G			21557918	-1			no_errors	ENST00000382592	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	21557918	G	T	21557918	3	4	182	1	0	0	0	0	1	0	0	0	8675	1328	46	3	1355	3	LATS2	13	21557918	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	760561	21557918	93611960	187	45363											
PDS5B	23047	genome.wustl.edu	37	chr13	33316842	33316842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	atattgcatagtgatggagaCttgacagaacaggggaaaat	16	9	12	4	0	0	4	0	2	0	2	0	6	0	5	0	3	2	1	0	3	5	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr13:33316842C>A	ENST00000315596.10	+	23	2775	c.2589C>A	c.(2587-2589)gaC>gaA	p.D863E		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	863					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)		GTGATGGAGACTTGACAGAAC	0.353																																																	0													145	135	138					13																	33316842		1862	4116	5978	SO:0001583	missense	0			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.2589C>A	13.37:g.33316842C>A	ENSP00000313851:p.Asp863Glu		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D863E	ENST00000315596.10	37	c.2589	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117336	0.77323	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.84	4.1	0.47936	Armadillo-like helical (1);Armadillo-type fold (1);	0.040834	0.85682	D	0.000000	T	0.67258	0.2874	M	0.64997	1.995	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.65853	-0.6067	9	0.06625	T	0.88	-3.8015	11.8702	0.52517	0.0:0.8031:0.0:0.1969	.	863	Q9NTI5	PDS5B_HUMAN	E	863	.	ENSP00000313851:D863E	D	+	3	2	PDS5B	32214842	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.554000	0.36266	0.787000	0.33731	0.591000	0.81541	GAC	PDS5B	-	superfamily_ARM-type_fold	ENSG00000083642		0.353	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	-	0	36	0	C	NM_015032		33316842	1	tier1	-	no_errors	ENST00000315596	ensembl	human	known	74_37	missense	25.93	40	14	SNP	1.000	A	A	33316842	C	A	33316842	3	1	182	1	0	0	0	0	1	0	0	0	11731	564	20	3	2675	3	PDS5B	13	33316842	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	11758924	33316842	81853036	188	45364											
STARD13	90627	genome.wustl.edu	37	chr13	33700299	33700299	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcccgttctttggacgtgGactatgagaggaacgccaaa	10	10	12	9	3	1	1	0	1	1	1	2	5	2	4	2	3	1	1	2	3	3	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr13:33700299G>T	ENST00000336934.5	-	7	2117	c.2001C>A	c.(1999-2001)gtC>gtA	p.V667V	STARD13_ENST00000399365.3_Silent_p.V549V|STARD13_ENST00000255486.4_Silent_p.V659V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	667	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)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TTTGGACGTGGACTATGAGAG	0.498																																																	0													191	167	175					13																	33700299		2203	4300	6503	SO:0001819	synonymous_variant	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2001C>A	13.37:g.33700299G>T			A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.V667	ENST00000336934.5	37	c.2001	CCDS9348.1	13																																																																																			STARD13	-	pfscan_RhoGAP_dom	ENSG00000133121		0.498	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	-	0	48	0	G	NM_001243466		33700299	-1	tier1	-	no_errors	ENST00000336934	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	T	T	33700299	G	T	33700299	2	4	182	1	0	0	0	0	0	0	0	1	15303	1161	41	3		3	STARD13	13	33700299	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	383457	33700299	81469579	189	45365											
C13orf31	144811	genome.wustl.edu	37	chr13	44456456	44456456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agaaaatctgcgtaggttggCgaatgctgcaggatttaatg	12	11	13	5	2	1	1	0	0	1	1	1	3	1	2	0	3	3	4	0	3	5	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr13:44456456C>T	ENST00000441843.1	+	3	1183	c.698C>T	c.(697-699)gCg>gTg	p.A233V	CCDC122_ENST00000444614.3_5'Flank|LACC1_ENST00000325686.6_Missense_Mutation_p.A233V|CCDC122_ENST00000476570.2_5'Flank	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	233																	CGTAGGTTGGCGAATGCTGCA	0.343																																																	0													83	85	84					13																	44456456		2203	4300	6503	SO:0001583	missense	0			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"chromosome 13 open reading frame 31"	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.698C>T	13.37:g.44456456C>T	ENSP00000391747:p.Ala233Val		A2A3Z6|Q8N8X5	Missense_Mutation	SNP	pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat	p.A233V	ENST00000441843.1	37	c.698	CCDS9391.1	13	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044497	0.75732	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	T;T	0.48836	0.8;0.8	5.86	5.02	0.67125	.	0.101153	0.64402	D	0.000002	T	0.48978	0.1530	M	0.79693	2.465	0.40189	D	0.977384	P	0.46952	0.887	B	0.37601	0.254	T	0.59107	-0.7516	10	0.48119	T	0.1	-25.5209	13.8296	0.63373	0.0:0.5947:0.4053:0.0	.	233	Q8IV20	LACC1_HUMAN	V	233	ENSP00000391747:A233V;ENSP00000317619:A233V	ENSP00000317619:A233V	A	+	2	0	LACC1	43354456	0.998000	0.40836	0.961000	0.40146	0.981000	0.71138	3.733000	0.55029	1.491000	0.48482	0.609000	0.83330	GCG	LACC1	-	pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat	ENSG00000179630		0.343	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LACC1	HGNC	protein_coding	OTTHUMT00000044726.3	-	0	37	0	C	NM_153218		44456456	1	tier1	-	no_errors	ENST00000325686	ensembl	human	known	74_37	missense	38.64	27	17	SNP	0.920	T	T	44456456	C	T	44456456	3	4	182	1	0	0	0	0	1	0	0	0	1731	768	27	1	704	1	C13orf31	13	44456456	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	10756157	44456456	70713422	190	45366											
SLITRK6	84189	genome.wustl.edu	37	chr13	86369470	86369470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgattgtttcccaagtgaaGcatttccaaagtgaaatatt	14	13	7	7	1	0	2	0	2	0	0	2	3	2	2	2	0	1	2	2	0	5	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr13:86369470G>C	ENST00000400286.2	-	2	1772	c.1174C>G	c.(1174-1176)Ctt>Gtt	p.L392V		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	392					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CCCAAGTGAAGCATTTCCAAA	0.373																																																	0													72	67	68					13																	86369470		1846	4090	5936	SO:0001583	missense	0			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1174C>G	13.37:g.86369470G>C	ENSP00000383143:p.Leu392Val		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L392V	ENST00000400286.2	37	c.1174	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010166	0.54361	.	.	ENSG00000184564	ENST00000400286	T	0.79033	-1.23	5.76	5.76	0.90799	.	0.000000	0.64402	U	0.000011	D	0.88662	0.6497	M	0.79614	2.46	0.53688	D	0.999972	D	0.89917	1.0	D	0.87578	0.998	D	0.89063	0.3464	10	0.66056	D	0.02	-11.36	18.5388	0.91020	0.0:0.0:1.0:0.0	.	392	Q9H5Y7	SLIK6_HUMAN	V	392	ENSP00000383143:L392V	ENSP00000383143:L392V	L	-	1	0	SLITRK6	85267471	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.869000	0.99810	2.724000	0.93272	0.585000	0.79938	CTT	SLITRK6	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000184564		0.373	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	-	0	64	0	G	NM_032229		86369470	-1	tier1	-	no_errors	ENST00000400286	ensembl	human	known	74_37	missense	26.58	58	21	SNP	1.000	C	C	86369470	G	C	86369470	3	2	182	1	0	0	0	0	1	0	0	0	14792	971	34	5	1355	5	SLITRK6	13	86369470	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	41913014	86369470	28800408	191	45367											
IPO5	3843	genome.wustl.edu	37	chr13	98660331	98660331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcatgcaggatgcatcaGatgtgatgcagcttttgtta	10	14	11	6	0	2	2	2	1	0	1	2	3	2	3	0	1	4	6	0	1	1	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr13:98660331G>A	ENST00000490680.1	+	15	1800	c.1735G>A	c.(1735-1737)Gat>Aat	p.D579N	IPO5_ENST00000261574.5_Missense_Mutation_p.D597N|IPO5_ENST00000539640.1_Missense_Mutation_p.D454N			O00410	IPO5_HUMAN	importin 5	579					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)	p.D597H(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GGATGCATCAGATGTGATGCA	0.383																																																	1	Substitution - Missense(1)	breast(1)											162	144	150					13																	98660331		2203	4300	6503	SO:0001583	missense	0			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.1735G>A	13.37:g.98660331G>A	ENSP00000418393:p.Asp579Asn		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.D597N	ENST00000490680.1	37	c.1789		13	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486184	0.63962	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.24	5.24	0.73138	Armadillo-type fold (1);	0.097389	0.64402	N	0.000001	T	0.12987	0.0315	N	0.05177	-0.1	0.58432	D	0.999998	B;B;B	0.18013	0.003;0.015;0.025	B;B;B	0.26416	0.013;0.019;0.069	T	0.17440	-1.0369	10	0.15499	T	0.54	-21.9067	18.7784	0.91922	0.0:0.0:1.0:0.0	.	454;579;597	B4E0R6;O00410;O00410-3	.;IPO5_HUMAN;.	N	597;579;579;454	ENSP00000261574:D597N;ENSP00000350219:D579N;ENSP00000418393:D579N;ENSP00000445126:D454N	ENSP00000261574:D597N	D	+	1	0	IPO5	97458332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.294000	0.96088	2.594000	0.87642	0.563000	0.77884	GAT	IPO5	-	superfamily_ARM-type_fold	ENSG00000065150		0.383	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	-	0	28	0	G	NM_002271		98660331	1	tier1	-	no_errors	ENST00000261574	ensembl	human	known	74_37	missense	76.92	9	30	SNP	1.000	A	A	98660331	G	A	98660331	3	1	182	1	0	0	0	0	1	0	0	0	7823	942	33	3	1851	3	IPO5	13	98660331	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	12290861	98660331	16509547	192	45368											
DOCK9	23348	genome.wustl.edu	37	chr13	99607799	99607799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtggctcaattagctttgGctttgcctggagggcgaaaa	9	11	14	7	1	1	0	1	0	0	0	1	3	1	1	1	4	2	3	1	4	4	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr13:99607799G>T	ENST00000376460.1	-	2	213	c.133C>A	c.(133-135)Cca>Aca	p.P45T	DOCK9_ENST00000448493.2_Missense_Mutation_p.P57T|DOCK9_ENST00000339416.2_Missense_Mutation_p.P46T|DOCK9_ENST00000442173.1_Missense_Mutation_p.P45T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	46					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)					ATTAGCTTTGGCTTTGCCTGG	0.403																																																	0													86	78	80					13																	99607799		1907	4119	6026	SO:0001583	missense	0			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.133C>A	13.37:g.99607799G>T	ENSP00000365643:p.Pro45Thr		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P46T	ENST00000376460.1	37	c.136	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495355	0.64186	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173;ENST00000427887	T;T;T;T	0.21031	2.4;2.45;2.03;2.08	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	M	0.70595	2.14	0.80722	D	1	B;P;P;B	0.39964	0.325;0.468;0.697;0.103	B;B;P;B	0.49477	0.299;0.241;0.612;0.041	T	0.05037	-1.0910	9	.	.	.	.	17.9484	0.89045	0.0:0.0:1.0:0.0	.	46;45;45;46	A6H8Z6;E9PFM9;Q9BZ29-5;Q9BZ29	.;.;.;DOCK9_HUMAN	T	45;46;46;46;45;46;57;45;46	ENSP00000365643:P45T;ENSP00000341086:P46T;ENSP00000401958:P57T;ENSP00000406883:P45T	.	P	-	1	0	DOCK9	98405800	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.841000	0.92131	2.534000	0.85438	0.561000	0.74099	CCA	DOCK9	-	NULL	ENSG00000088387		0.403	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	-	0	54	0	G	NM_015296		99607799	-1	tier1	-	no_errors	ENST00000339416	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	99607799	G	T	99607799	3	4	182	1	0	0	0	0	1	0	0	0	4708	1203	42	3	6354	3	DOCK9	13	99607799	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	947468	99607799	15562079	193	45369											
TNFSF13B	10673	genome.wustl.edu	37	chr13	108922373	108922373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctgtccgatcctccaaaGacggaaagctgctggctgca	9	8	10	14	2	1	1	0	0	1	1	4	3	4	2	4	2	3	4	4	2	2	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr13:108922373G>C	ENST00000375887.4	+	1	308	c.130G>C	c.(130-132)Gac>Cac	p.D44H	TNFSF13B_ENST00000542136.1_Missense_Mutation_p.D44H|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.D44H	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	44					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	ATCCTCCAAAGACGGAAAGCT	0.552																																																	0													136	140	139					13																	108922373		2203	4300	6503	SO:0001583	missense	0			AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.130G>C	13.37:g.108922373G>C	ENSP00000365048:p.Asp44His		E0ADT7|Q6FHD6|Q7Z5J2	Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom	p.D44H	ENST00000375887.4	37	c.130	CCDS9509.1	13	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247601	0.22880	.	.	ENSG00000102524	ENST00000430559;ENST00000375887;ENST00000542136	T;T;T	0.69561	-0.41;-0.41;-0.41	4.32	3.46	0.39613	.	0.520908	0.19248	N	0.119014	T	0.74183	0.3683	M	0.67953	2.075	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.921	T	0.61903	-0.6967	10	0.40728	T	0.16	-15.4657	5.6153	0.17428	0.1093:0.2247:0.6661:0.0	.	44;44	Q9Y275-2;Q9Y275	.;TN13B_HUMAN	H	44	ENSP00000389540:D44H;ENSP00000365048:D44H;ENSP00000445334:D44H	ENSP00000365048:D44H	D	+	1	0	TNFSF13B	107720374	0.021000	0.18746	0.066000	0.19879	0.003000	0.03518	1.586000	0.36611	2.344000	0.79699	0.650000	0.86243	GAC	TNFSF13B	-	NULL	ENSG00000102524		0.552	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFSF13B	HGNC	protein_coding	OTTHUMT00000045739.3	-	0	17	0	G			108922373	1	tier1	-	no_errors	ENST00000375887	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.009	C	C	108922373	G	C	108922373	3	2	182	1	0	0	0	0	1	0	0	0	16353	942	33	5	132	5	TNFSF13B	13	108922373	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	9314574	108922373	6247505	194	45370											
SOX1	6656	genome.wustl.edu	37	chr13	112722275	112722275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccgagaagcggccgttcatCgacgaggccaagcggctgcg	8	4	16	13	7	1	1	1	0	0	1	2	4	1	1	3	3	3	2	3	3	2	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr13:112722275C>G	ENST00000330949.1	+	1	363	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	101					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GGCCGTTCATCGACGAGGCCA	0.627																																																	0													41	45	44					13																	112722275		2203	4300	6503	SO:0001583	missense	0				CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"SRY (sex determining region Y)-boxes"	11189	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 1"	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.303C>G	13.37:g.112722275C>G	ENSP00000330218:p.Ile101Met		Q5W0Q1	Missense_Mutation	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.I101M	ENST00000330949.1	37	c.303	CCDS9523.1	13	.	.	.	.	.	.	.	.	.	.	c	16.31	3.087744	0.55968	.	.	ENSG00000182968	ENST00000330949	D	0.98075	-4.7	3.47	2.62	0.31277	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.98232	0.9415	M	0.84219	2.685	0.50467	D	0.99987	D	0.89917	1.0	D	0.87578	0.998	D	0.97628	1.0140	10	0.87932	D	0	.	6.8474	0.23996	0.0:0.7737:0.0:0.2263	.	101	O00570	SOX1_HUMAN	M	101	ENSP00000330218:I101M	ENSP00000330218:I101M	I	+	3	3	SOX1	111770276	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.799000	0.38824	0.675000	0.31264	0.450000	0.29827	ATC	SOX1	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000182968		0.627	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX1	HGNC	protein_coding	OTTHUMT00000045817.3	-	0	93	0	C	NM_005986		112722275	1	tier1	-	no_errors	ENST00000330949	ensembl	human	known	74_37	missense	75.00	12	36	SNP	1.000	G	G	112722275	C	G	112722275	3	3	182	1	0	0	0	0	1	0	0	0	14985	874	31	5	305	5	SOX1	13	112722275	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	3799902	112722275	2447603	195	45371											
POTEM	641455	genome.wustl.edu	37	chr14	20020113	20020113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgttgctcttgccgctcccCctgcaccaggggaagcagtg	6	8	12	15	2	1	0	0	0	1	0	2	1	2	1	4	2	4	5	4	2	1	2	rs199622050		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr14:20020113C>T	ENST00000551509.1	-	1	159	c.108G>A	c.(106-108)agG>agA	p.R36R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	36										endometrium(4)|kidney(1)|lung(4)	9						TGCCGCTCCCCCTGCACCAGG	0.587																																																	0													5	6	6					14																	20020113		197	578	775	SO:0001819	synonymous_variant	0				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.108G>A	14.37:g.20020113C>T				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R36	ENST00000551509.1	37	c.108	CCDS45076.1	14																																																																																			POTEM	-	NULL	ENSG00000187537		0.587	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	-	0	45	0	C	NM_001145442		20020113	-1	tier1	rs199622050	no_errors	ENST00000547848	ensembl	human	known	74_37	silent	13.16	66	10	SNP	0.101	T	T	20020113	C	T	20020113	2	4	182	1	0	0	0	0	0	0	0	1	12307	622	22	3		3	POTEM	14	20020113	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09		20020113	87329427	196	45372											
CHD8	57680	genome.wustl.edu	37	chr14	21873596	21873596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtcttctcagcatcattgGcttaagaatggcctgtagct	9	13	10	9	0	3	1	2	0	2	1	4	2	3	1	1	2	2	4	1	2	3	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr14:21873596G>T	ENST00000557364.1	-	16	3342	c.3079C>A	c.(3079-3081)Cca>Aca	p.P1027T	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.P748T|CHD8_ENST00000399982.2_Missense_Mutation_p.P1027T			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1027					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)		AGCATCATTGGCTTAAGAATG	0.368																																																	0													34	31	32					14																	21873596		1838	4089	5927	SO:0001583	missense	0			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.3079C>A	14.37:g.21873596G>T	ENSP00000451601:p.Pro1027Thr		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P1027T	ENST00000557364.1	37	c.3079	CCDS53885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.462375|4.462375	0.84425|0.84425	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.94723	.|-3.5;-3.5;-3.5	5.33|5.33	5.33|5.33	0.75918|0.75918	.|SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97860|0.97860	0.9297|0.9297	M|M	0.91561|0.91561	3.22|3.22	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.997	D|D	0.98514|0.98514	1.0620|1.0620	5|10	.|0.87932	.|D	.|0	-14.6108|-14.6108	17.9616|17.9616	0.89087|0.89087	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1027;748	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	D|T	252|748;1027;747;1027	.|ENSP00000406288:P748T;ENSP00000382863:P1027T;ENSP00000451601:P1027T	.|ENSP00000262707:P747T	A|P	-|-	2|1	0|0	CHD8|CHD8	20943436|20943436	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	9.515000|9.515000	0.98015|0.98015	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	GCC|CCA	CHD8	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000100888		0.368	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1		0	24	0	G	NM_020920		21873596	-1			no_errors	ENST00000399982	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	21873596	G	T	21873596	3	4	182	1	0	0	0	0	1	0	0	0	3338	1203	42	3	4758	3	CHD8	14	21873596	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1853483	21873596	85475944	197	45373											
HOMEZ	57594	genome.wustl.edu	37	chr14	23745409	23745409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtactctgtggggccaactCtacctggtactgagttatgc	7	12	12	10	0	2	1	0	1	2	0	2	1	2	1	2	4	5	3	2	4	5	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr14:23745409C>G	ENST00000357460.5	-	2	1192	c.1028G>C	c.(1027-1029)aGa>aCa	p.R343T	HOMEZ_ENST00000431326.2_Missense_Mutation_p.R345T|HOMEZ_ENST00000561013.1_Missense_Mutation_p.R345T	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	343					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)		GGGGCCAACTCTACCTGGTAC	0.527																																																	0													156	157	157					14																	23745409		1984	4145	6129	SO:0001583	missense	0			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.1028G>C	14.37:g.23745409C>G	ENSP00000350049:p.Arg343Thr		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R345T	ENST00000357460.5	37	c.1034	CCDS45085.1	14	.	.	.	.	.	.	.	.	.	.	C	4.028	0.002751	0.07866	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.24350	1.86;1.86	6.17	5.28	0.74379	.	0.509864	0.16694	N	0.203411	T	0.20740	0.0499	L	0.29908	0.895	0.09310	N	1	P;P	0.42296	0.775;0.666	B;B	0.39660	0.306;0.162	T	0.07986	-1.0744	10	0.25106	T	0.35	-2.6624	14.0518	0.64742	0.0:0.7141:0.2859:0.0	.	345;343	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	T	343;345	ENSP00000350049:R343T;ENSP00000406579:R345T	ENSP00000350049:R343T	R	-	2	0	HOMEZ	22815249	0.022000	0.18835	0.004000	0.12327	0.003000	0.03518	2.669000	0.46825	1.601000	0.50113	0.655000	0.94253	AGA	HOMEZ	-	NULL	ENSG00000215271		0.527	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HOMEZ	HGNC	protein_coding	OTTHUMT00000416939.2	-	0	27	0	C	NM_020834		23745409	-1	tier1	-	no_errors	ENST00000431326	ensembl	human	known	74_37	missense	15.87	53	10	SNP	0.007	G	G	23745409	C	G	23745409	3	3	182	1	0	0	0	0	1	0	0	0	7308	913	32	5	628	5	HOMEZ	14	23745409	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	1871813	23745409	83604131	198	45374											
AKAP6	9472	genome.wustl.edu	37	chr14	33291681	33291681	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagacattcactggcatgcaGaatgccaaacagctctccct	13	8	7	13	0	2	2	1	0	1	2	3	2	2	2	2	1	4	3	2	1	3	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr14:33291681G>C	ENST00000280979.4	+	13	4832	c.4662G>C	c.(4660-4662)caG>caC	p.Q1554H	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1554					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGGCATGCAGAATGCCAAAC	0.403																																					Melanoma(49;821 1200 7288 13647 42351)												0													115	121	119					14																	33291681		2203	4300	6503	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4662G>C	14.37:g.33291681G>C	ENSP00000280979:p.Gln1554His		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.Q1554H	ENST00000280979.4	37	c.4662	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	G	7.831	0.719774	0.15372	.	.	ENSG00000151320	ENST00000280979	T	0.05717	3.4	5.79	2.9	0.33743	.	0.471953	0.22481	N	0.059500	T	0.08133	0.0203	M	0.65975	2.015	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08186	-1.0734	10	0.54805	T	0.06	-2.411	6.656	0.22988	0.2503:0.1286:0.6211:0.0	.	1554	Q13023	AKAP6_HUMAN	H	1554	ENSP00000280979:Q1554H	ENSP00000280979:Q1554H	Q	+	3	2	AKAP6	32361432	0.971000	0.33674	1.000000	0.80357	0.987000	0.75469	-0.001000	0.12947	0.771000	0.33359	0.650000	0.86243	CAG	AKAP6	-	NULL	ENSG00000151320		0.403	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	-	0	29	0	G	NM_004274		33291681	1	tier1	-	no_errors	ENST00000280979	ensembl	human	known	74_37	missense	16.90	59	12	SNP	1.000	C	C	33291681	G	C	33291681	3	2	182	1	0	0	0	0	1	0	0	0	455	933	33	5	4708	5	AKAP6	14	33291681	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	9546272	33291681	74057859	199	45375											
LRFN5	145581	genome.wustl.edu	37	chr14	42357021	42357021	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctggttcttcagatatctCaacttctaccaagtcaggtt	9	15	6	11	0	5	1	3	0	3	1	7	1	6	1	2	2	2	2	2	2	4	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr14:42357021C>G	ENST00000298119.4	+	3	2382	c.1193C>G	c.(1192-1194)tCa>tGa	p.S398*	LRFN5_ENST00000554171.1_Nonsense_Mutation_p.S398*|LRFN5_ENST00000554120.1_Nonsense_Mutation_p.S398*	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	398						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)		TCAGATATCTCAACTTCTACC	0.378										HNSCC(30;0.082)																																							0													85	86	86					14																	42357021		2203	4300	6503	SO:0001587	stop_gained	0			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.1193C>G	14.37:g.42357021C>G	ENSP00000298119:p.Ser398*		B3KU78|Q86XL2	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S398*	ENST00000298119.4	37	c.1193	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	46	12.922443	0.99706	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	.	.	.	5.4	4.51	0.55191	.	0.138612	0.33382	N	0.004964	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	12.1129	0.53850	0.0:0.9157:0.0:0.0843	.	.	.	.	X	398	.	ENSP00000298119:S398X	S	+	2	0	LRFN5	41426771	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.049000	0.71053	1.393000	0.46605	0.563000	0.77884	TCA	LRFN5	-	NULL	ENSG00000165379		0.378	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0	31	0	C	NM_152447		42357021	1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	nonsense	32.76	39	19	SNP	1.000	G	G	42357021	C	G	42357021	4	3	182	1	0	0	0	0	0	1	0	0	8976	838	29	5	1195	5	LRFN5	14	42357021	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	9065340	42357021	64992519	200	45376											
KIAA0586	9786	genome.wustl.edu	37	chr14	58924677	58924677	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccatgtattcgcttatCaatgctttatctaccaacag	10	14	6	11	1	2	0	1	0	1	0	3	0	2	0	2	0	4	4	2	0	6	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr14:58924677C>G	ENST00000556134.1	+	12	1792	c.1518C>G	c.(1516-1518)atC>atG	p.I506M	KIAA0586_ENST00000423743.3_Missense_Mutation_p.I477M|KIAA0586_ENST00000261244.5_Missense_Mutation_p.I521M|KIAA0586_ENST00000354386.6_Missense_Mutation_p.I574M|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	506	Required for centrosomal localization. {ECO:0000250}.				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						ATTCGCTTATCAATGCTTTAT	0.358																																																	0													49	48	49					14																	58924677		1852	4100	5952	SO:0001583	missense	0			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.1518C>G	14.37:g.58924677C>G	ENSP00000452351:p.Ile506Met		B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	NULL	p.I506M	ENST00000556134.1	37	c.1518	CCDS58321.1	14	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876249	0.51801	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.99	4.93	0.64822	.	0.081823	0.51477	D	0.000083	T	0.59473	0.2196	L	0.51422	1.61	0.31152	N	0.70536	P;P;D;P;P;P	0.89917	0.717;0.717;1.0;0.717;0.717;0.717	B;B;D;B;B;B	0.91635	0.352;0.352;0.999;0.352;0.352;0.352	T	0.63782	-0.6559	10	0.44086	T	0.13	.	3.2487	0.06806	0.2243:0.5161:0.1273:0.1323	.	381;381;574;521;506;477	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	M	574;506;477;521;381	ENSP00000346359:I574M;ENSP00000452351:I506M;ENSP00000399427:I477M;ENSP00000261244:I521M	ENSP00000261244:I521M	I	+	3	3	KIAA0586	57994430	0.950000	0.32346	1.000000	0.80357	0.959000	0.62525	-0.008000	0.12788	2.840000	0.97914	0.655000	0.94253	ATC	KIAA0586	-	NULL	ENSG00000100578		0.358	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0586	HGNC	protein_coding	OTTHUMT00000411887.1	-	0	50	0	C	NM_014749		58924677	1	tier1	-	no_errors	ENST00000556134	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.998	G	G	58924677	C	G	58924677	3	3	182	1	0	0	0	0	1	0	0	0	8213	816	29	5	1605	5	KIAA0586	14	58924677	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	16567656	58924677	48424863	201	45377											
DCAF5	8816	genome.wustl.edu	37	chr14	69520682	69520682	+	Silent	SNP	T	T	C	0	1	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	tgaacagccctgctactatcTgtggctggggtgtcagtggg	6	11	15	9	0	2	1	1	1	1	0	2	1	2	1	1	4	4	2	1	4	3	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr14:69520682T>C	ENST00000341516.5	-	9	2868	c.2721A>G	c.(2719-2721)acA>acG	p.T907T	DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000557386.1_Silent_p.T906T|DCAF5_ENST00000556847.1_Silent_p.T825T|DCAF5_ENST00000554215.1_Silent_p.T825T	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	907					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						TGCTACTATCTGTGGCTGGGG	0.493																																																	0													73	78	76					14																	69520682		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2721A>G	14.37:g.69520682T>C			B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T907	ENST00000341516.5	37	c.2721	CCDS32106.1	14																																																																																			DCAF5	-	NULL	ENSG00000139990		0.493	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2		0	54	0	T	NM_003861		69520682	-1			no_errors	ENST00000341516	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.275	C	C	69520682	T	C	69520682	2	2	182	1	0	0	0	0	0	0	0	1	4282	1567	55	4		4	DCAF5	14	69520682	Silent	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	10596005	69520682	37828858	202	45378											
JMJD7-PLA2G4B	100137049	genome.wustl.edu	37	chr15	42138148	42138148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccgctctttcaggtatctgGagcaacctgtatgcagccaa	9	10	10	12	1	3	0	1	0	2	0	3	1	3	1	3	2	4	5	3	2	4	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr15:42138148G>C	ENST00000452633.1	+	17	1855	c.1503G>C	c.(1501-1503)tgG>tgC	p.W501C	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.W501C|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.W732C|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.W732C|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.W732C			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	501	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				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)		CAGGTATCTGGAGCAACCTGT	0.602																																																	0													45	48	47					15																	42138148		2203	4300	6503	SO:0001583	missense	0			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.1503G>C	15.37:g.42138148G>C	ENSP00000396045:p.Trp501Cys		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.W732C	ENST00000452633.1	37	c.2196	CCDS45241.1	15	.	.	.	.	.	.	.	.	.	.	.	18.25	3.582226	0.65992	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	5.04	5.04	0.67666	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.64402	D	0.000005	T	0.25791	0.0628	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;0.999	T	0.00282	-1.1850	10	0.87932	D	0	-18.554	14.6296	0.68647	0.0:0.0:1.0:0.0	.	501;732;202;732	P0C869;P0C869-7;P0C869-4;P0C869-6	PA24B_HUMAN;.;.;.	C	732;732;501;501	ENSP00000371886:W732C;ENSP00000342785:W732C;ENSP00000416610:W501C;ENSP00000396045:W501C	ENSP00000342785:W732C	W	+	3	0	JMJD7-PLA2G4B;PLA2G4B	39925440	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.191000	0.58372	2.724000	0.93272	0.561000	0.74099	TGG	JMJD7-PLA2G4B	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000168970		0.602	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000345969.1	-	0	61	0	G	NM_001114633		42138148	1	tier1	-	no_errors	ENST00000382448	ensembl	human	known	74_37	missense	69.23	16	36	SNP	1.000	C	C	42138148	G	C	42138148	3	2	182	1	0	0	0	0	1	0	0	0	7982	1183	41	5	2278	5	JMJD7-PLA2G4B	15	42138148	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		42138148	60393244	203	45379											
FBN1	2200	genome.wustl.edu	37	chr15	48714182	48714182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggtgttgggtaaatccggGaggacatttgcatgtgaagc	10	11	15	5	1	0	1	0	1	0	0	1	3	1	3	1	4	2	3	1	4	3	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr15:48714182G>T	ENST00000316623.5	-	61	7992	c.7537C>A	c.(7537-7539)Ccc>Acc	p.P2513T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2513	EGF-like 43; 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)		GTAAATCCGGGAGGACATTTG	0.423																																																	0													115	97	103					15																	48714182		2198	4296	6494	SO:0001583	missense	0			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.7537C>A	15.37:g.48714182G>T	ENSP00000325527:p.Pro2513Thr		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.P2513T	ENST00000316623.5	37	c.7537	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374102	0.82573	.	.	ENSG00000166147	ENST00000316623	D	0.92099	-2.97	5.89	5.89	0.94794	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.048812	0.85682	D	0.000000	D	0.89458	0.6721	L	0.31120	0.905	0.80722	D	1	P	0.38300	0.626	B	0.40782	0.34	D	0.87951	0.2723	10	0.37606	T	0.19	.	19.8568	0.96762	0.0:0.0:1.0:0.0	.	2513	P35555	FBN1_HUMAN	T	2513	ENSP00000325527:P2513T	ENSP00000325527:P2513T	P	-	1	0	FBN1	46501474	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.641000	0.74324	2.793000	0.96121	0.655000	0.94253	CCC	FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	37	0	G			48714182	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	26.00	37	13	SNP	1.000	T	T	48714182	G	T	48714182	3	4	182	1	0	0	0	0	1	0	0	0	5724	1174	41	3	1102	3	FBN1	15	48714182	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	6576034	48714182	53817210	204	45380											
HERC1	8925	genome.wustl.edu	37	chr15	64021787	64021787	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggctgactgttttctGatgatgatgttccaagtaga	10	13	12	6	0	1	5	0	4	1	1	2	6	2	5	1	1	1	5	1	1	2	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr15:64021787G>T	ENST00000443617.2	-	15	3017	c.2930C>A	c.(2929-2931)tCa>tAa	p.S977*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	977					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						ACTGTTTTCTGATGATGATGT	0.368																																																	0													109	101	104					15																	64021787		1886	4137	6023	SO:0001587	stop_gained	0			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.2930C>A	15.37:g.64021787G>T	ENSP00000390158:p.Ser977*		Q8IW65	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.S977*	ENST00000443617.2	37	c.2930	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	41	9.097351	0.99064	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0306	0.92955	0.0:0.0:1.0:0.0	.	.	.	.	X	977	.	ENSP00000390158:S977X	S	-	2	0	HERC1	61808840	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	5.680000	0.68168	2.481000	0.83766	0.563000	0.77884	TCA	HERC1	-	NULL	ENSG00000103657		0.368	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	45	0	G	NM_003922		64021787	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	0.997	T	T	64021787	G	T	64021787	4	4	182	1	0	0	0	0	0	1	0	0	7084	1294	45	3	11911	3	HERC1	15	64021787	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	15307605	64021787	38509605	205	45381											
CHRNB4	1143	genome.wustl.edu	37	chr15	78921615	78921615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagggcgcttcatgaagagGaaggtaggcagcttgtgcag	10	7	16	8	1	1	2	1	1	0	1	1	3	1	3	1	4	2	5	1	4	3	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr15:78921615G>T	ENST00000261751.3	-	5	1143	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L	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)	344					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)	TCATGAAGAGGAAGGTAGGCA	0.657																																																	0													55	55	55					15																	78921615		2196	4293	6489	SO:0001583	missense	0			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.1032C>A	15.37:g.78921615G>T	ENSP00000261751:p.Phe344Leu		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F344L	ENST00000261751.3	37	c.1032	CCDS10306.1	15	.	.	.	.	.	.	.	.	.	.	G	3.839	-0.034213	0.07543	.	.	ENSG00000117971	ENST00000261751	T	0.68479	-0.33	5.3	3.38	0.38709	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.126685	0.56097	D	0.000035	T	0.37210	0.0995	N	0.04320	-0.23	0.80722	D	1	B	0.10296	0.003	B	0.17979	0.02	T	0.32188	-0.9916	10	0.02654	T	1	.	10.269	0.43473	0.0725:0.0:0.7938:0.1338	.	344	P30926	ACHB4_HUMAN	L	344	ENSP00000261751:F344L	ENSP00000261751:F344L	F	-	3	2	CHRNB4	76708670	0.717000	0.27966	1.000000	0.80357	0.996000	0.88848	-0.160000	0.10041	1.227000	0.43598	0.655000	0.94253	TTC	CHRNB4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000117971		0.657	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB4	HGNC	protein_coding	OTTHUMT00000290108.1	-	0	70	0	G			78921615	-1	tier1	-	no_errors	ENST00000261751	ensembl	human	known	74_37	missense	52.00	24	26	SNP	1.000	T	T	78921615	G	T	78921615	3	4	182	1	0	0	0	0	1	0	0	0	3400	1165	41	3	472	3	CHRNB4	15	78921615	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	14899828	78921615	23609777	206	45382											
KLHL25	64410	genome.wustl.edu	37	chr15	86311930	86311930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaatcagcatgggcgccGccttggaccattcctcatgt	7	9	12	13	2	2	0	2	0	0	0	3	1	3	1	4	3	1	2	4	3	1	2	rs542141942		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr15:86311930G>A	ENST00000337975.5	-	2	1386	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.A371V|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	371					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CATGGGCGCCGCCTTGGACCA	0.622																																																	0													41	42	42					15																	86311930		2202	4299	6501	SO:0001583	missense	0				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1112C>T	15.37:g.86311930G>A	ENSP00000336800:p.Ala371Val		B2RDH2|B3KRT7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A371V	ENST00000337975.5	37	c.1112	CCDS10339.1	15	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552413	0.45487	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.75821	-0.97;-0.97	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.125191	0.52532	D	0.000061	T	0.57475	0.2056	N	0.13098	0.295	0.43283	D	0.99525	B	0.22276	0.067	B	0.25987	0.065	T	0.55755	-0.8091	10	0.02654	T	1	.	17.6839	0.88251	0.0:0.0:1.0:0.0	.	371	Q9H0H3	ENC2_HUMAN	V	371;340;371	ENSP00000336800:A371V;ENSP00000444739:A371V	ENSP00000336800:A371V	A	-	2	0	KLHL25	84112934	1.000000	0.71417	0.996000	0.52242	0.842000	0.47809	4.320000	0.59203	2.426000	0.82243	0.462000	0.41574	GCG	KLHL25	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000183655		0.622	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL25	HGNC	protein_coding	OTTHUMT00000309023.1		0	49	0	G	NM_022480		86311930	-1			no_errors	ENST00000337975	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.995	A	A	86311930	G	A	86311930	3	1	182	1	0	0	0	0	1	0	0	0	8407	1087	38	1	661	1	KLHL25	15	86311930	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	7390315	86311930	16219462	207	45383											
LASS3	204219	genome.wustl.edu	37	chr15	101013168	101013168	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcgtgtacaatcatcacGagggtcccactgcgaatata	13	9	8	11	3	2	0	2	0	0	0	4	2	3	0	1	1	2	1	1	1	5	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr15:101013168G>T	ENST00000394113.1	-	11	1389	c.699C>A	c.(697-699)ctC>ctA	p.L233L	CERS3_ENST00000538112.2_Silent_p.L233L|CERS3_ENST00000284382.4_Silent_p.L233L|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	233	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				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)										CAATCATCACGAGGGTCCCAC	0.438																																																	0													119	102	108					15																	101013168		2203	4300	6503	SO:0001819	synonymous_variant	0				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.699C>A	15.37:g.101013168G>T			Q8NE64|Q8NEN6	Silent	SNP	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeobox_dom	p.L233	ENST00000394113.1	37	c.699	CCDS10384.1	15																																																																																			CERS3	-	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000154227		0.438	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	CERS3	HGNC	protein_coding	OTTHUMT00000313594.4	-	0	53	0	G	NM_178842		101013168	-1	tier1	-	no_errors	ENST00000284382	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.904	T	T	101013168	G	T	101013168	2	4	182	1	0	0	0	0	0	0	0	1	8668	1045	37	2		2	LASS3	15	101013168	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	14701238	101013168	1518224	208	45384											
LRRK1	79705	genome.wustl.edu	37	chr15	101549252	101549252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcgtgcagtcatcggacGaaatcatctgttccaggtgg	8	10	13	10	3	3	0	2	0	1	0	5	2	4	1	1	4	1	2	1	4	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr15:101549252G>A	ENST00000388948.3	+	7	1332	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	LRRK1_ENST00000284395.5_Missense_Mutation_p.E322K	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)			GTCATCGGACGAAATCATCTG	0.622											OREG0023521	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													33	34	33					15																	101549252		1924	4134	6058	SO:0001583	missense	0			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.973G>A	15.37:g.101549252G>A	ENSP00000373600:p.Glu325Lys	1359		Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.E325K	ENST00000388948.3	37	c.973	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855611	0.71834	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.24350	1.86;1.86	5.64	5.64	0.86602	.	0.063428	0.64402	D	0.000012	T	0.13457	0.0326	N	0.08118	0	0.58432	D	0.999999	P	0.44044	0.825	B	0.32980	0.156	T	0.09552	-1.0669	10	0.30078	T	0.28	.	18.6966	0.91603	0.0:0.0:1.0:0.0	.	325	Q38SD2	LRRK1_HUMAN	K	325;322	ENSP00000373600:E325K;ENSP00000284395:E322K	ENSP00000284395:E322K	E	+	1	0	LRRK1	99366775	1.000000	0.71417	0.431000	0.26735	0.260000	0.26232	7.280000	0.78610	2.648000	0.89879	0.561000	0.74099	GAA	LRRK1	-	NULL	ENSG00000154237		0.622	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0	12	0	G	NM_024652		101549252	1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	72.22	5	13	SNP	0.999	A	A	101549252	G	A	101549252	3	1	182	1	0	0	0	0	1	0	0	0	9067	1059	37	1	995	1	LRRK1	15	101549252	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	536084	101549252	982140	209	45385											
RAB11FIP3	9727	genome.wustl.edu	37	chr16	570264	570264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagctggagcaggaggtccGcaggctgaagcaggtgggca	9	4	19	9	2	0	1	0	1	0	0	1	4	1	3	1	6	3	6	1	6	1	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:570264G>A	ENST00000262305.4	+	12	2391	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.R372H|RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.R713H	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	668					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CAGGAGGTCCGCAGGCTGAAG	0.697																																					Melanoma(160;2366 2595 4474 8099)												0													7	11	10					16																	570264		2126	4209	6335	SO:0001583	missense	0			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.2003G>A	16.37:g.570264G>A	ENSP00000262305:p.Arg668His		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom	p.R713H	ENST00000262305.4	37	c.2138	CCDS32351.1	16	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171212	0.78452	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585;ENST00000450428;ENST00000448401	T;T	0.17691	2.26;2.26	5.27	5.27	0.74061	.	.	.	.	.	T	0.32912	0.0845	L	0.53249	1.67	0.48975	D	0.99973	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.74023	0.982;0.88;0.939	T	0.02654	-1.1128	9	0.59425	D	0.04	-32.5325	8.7346	0.34521	0.0799:0.0:0.7678:0.1523	.	713;372;668	O75154-3;O75154-2;O75154	.;.;RFIP3_HUMAN	H	668;713;589;372;372	ENSP00000399644:R589H;ENSP00000415919:R372H	ENSP00000262305:R668H	R	+	2	0	RAB11FIP3	510265	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.273000	0.58914	2.466000	0.83321	0.491000	0.48974	CGC	RAB11FIP3	-	NULL	ENSG00000090565		0.697	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	RAB11FIP3	HGNC	protein_coding	OTTHUMT00000109066.4		0	11	0	G	NM_014700		570264	1			no_errors	ENST00000457159	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.992	A	A	570264	G	A	570264	3	1	182	1	0	0	0	0	1	0	0	0	12940	1087	38	1	2068	1	RAB11FIP3	16	570264	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		570264	89784489	210	45386											
MSLNL	401827	genome.wustl.edu	37	chr16	822739	822739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggactcatccagcacaggcGggtgcccccgatggccagca	9	4	13	15	2	1	0	1	0	0	0	2	2	2	1	4	4	3	2	4	4	0	0	rs7199313	byFrequency	TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:822739G>T	ENST00000442466.1	-	11	1314	c.1315C>A	c.(1315-1317)Cgc>Agc	p.R439S	MSLNL_ENST00000293892.3_Missense_Mutation_p.R790S|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	439					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGCACAGGCGGGTGCCCCCG	0.662																																																	0													13	17	16					16																	822739		1946	4122	6068	SO:0001583	missense	0					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1315C>A	16.37:g.822739G>T	ENSP00000415767:p.Arg439Ser			Missense_Mutation	SNP	pfam_Mesothelin	p.R790S	ENST00000442466.1	37	c.2368		16	.	.	.	.	.	.	.	.	.	.	g	2.752	-0.259917	0.05791	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.10960	2.82;2.82;2.82	4.66	2.69	0.31865	.	0.224825	0.37348	N	0.002123	T	0.04907	0.0132	.	.	.	0.26684	N	0.971489	B	0.11235	0.004	B	0.12837	0.008	T	0.40270	-0.9572	9	0.13853	T	0.58	-26.3247	5.1692	0.15101	0.1053:0.0:0.6882:0.2066	.	439	Q96KJ4	MSLNL_HUMAN	S	489;439;790	ENSP00000441381:R489S;ENSP00000415767:R439S;ENSP00000293892:R790S	ENSP00000293892:R790S	R	-	1	0	MSLNL	762740	0.871000	0.30034	0.992000	0.48379	0.280000	0.26924	1.085000	0.30840	0.979000	0.38497	-0.240000	0.12126	CGC	MSLNL	-	pfam_Mesothelin	ENSG00000162006		0.662	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	HGNC	protein_coding			0	70	0	G	NM_001025190		822739	-1			no_errors	ENST00000293892	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.990	T	T	822739	G	T	822739	3	4	182	1	0	0	0	0	1	0	0	0	9920	1116	39	2	813	2	MSLNL	16	822739	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	252475	822739	89532014	211	45387											
CORO7	79585	genome.wustl.edu	37	chr16	4407996	4407996	+	Missense_Mutation	SNP	T	T	C	0	1	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	catgtcaggaggctgcaggcTgagaagccagggctgcccat	9	6	15	11	0	1	1	1	1	0	1	1	3	1	2	2	4	3	4	2	4	1	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:4407996T>C	ENST00000251166.4	-	25	2711	c.2566A>G	c.(2566-2568)Agc>Ggc	p.S856G	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.S856G|CORO7_ENST00000539968.1_Missense_Mutation_p.S636G|CORO7_ENST00000537233.2_Missense_Mutation_p.S838G|PAM16_ENST00000576217.1_5'Flank|CORO7_ENST00000574025.1_Missense_Mutation_p.S771G|CORO7-PAM16_ENST00000572274.1_5'UTR	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	856					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						GGCTGCAGGCTGAGAAGCCAG	0.632																																																	0													38	40	40					16																	4407996		2197	4300	6497	SO:0001583	missense	0			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.2566A>G	16.37:g.4407996T>C	ENSP00000251166:p.Ser856Gly		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S856G	ENST00000251166.4	37	c.2566	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	T	14.56	2.572083	0.45798	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.37752	1.18;1.18	5.24	4.12	0.48240	Domain of unknown function DUF1900 (1);	0.568691	0.20367	N	0.093728	T	0.55909	0.1950	M	0.89785	3.06	0.80722	D	1	P;P;P;P	0.46020	0.843;0.454;0.565;0.871	P;B;B;P	0.51550	0.487;0.334;0.171;0.673	T	0.60870	-0.7177	10	0.87932	D	0	-11.3632	9.5676	0.39409	0.3738:0.0:0.0:0.6262	.	771;838;856;837	P57737-2;B4DFD6;P57737;B4DKU9	.;.;CORO7_HUMAN;.	G	856;771;636	ENSP00000251166:S856G;ENSP00000446221:S636G	ENSP00000251166:S856G	S	-	1	0	CORO7	4347997	1.000000	0.71417	0.997000	0.53966	0.050000	0.14768	3.716000	0.54904	0.785000	0.33685	0.467000	0.42956	AGC	CORO7-PAM16	-	pfam_DUF1900	ENSG00000103426		0.632	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	-	0	44	0	T	NM_024535		4407996	-1	tier1	-	no_errors	ENST00000572467	ensembl	human	known	74_37	missense	68.29	13	28	SNP	1.000	C	C	4407996	T	C	4407996	3	2	182	1	0	0	0	0	1	0	0	0	3766	1580	55	4	227	4	CORO7	16	4407996	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	3585257	4407996	85946757	212	45388											
TMC5	79838	genome.wustl.edu	37	chr16	19483510	19483510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcctgggttgtctctacagGagtggccatagcctgctgtg	6	11	14	10	0	1	0	0	0	1	0	2	1	1	1	3	3	4	2	3	3	2	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:19483510G>T	ENST00000396229.2	+	11	2632	c.1883G>T	c.(1882-1884)gGa>gTa	p.G628V	TMC5_ENST00000219821.5_Missense_Mutation_p.G382V|TMC5_ENST00000381414.4_Missense_Mutation_p.G628V|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000542583.2_Missense_Mutation_p.G628V|TMC5_ENST00000564959.1_Missense_Mutation_p.G311V|TMC5_ENST00000561503.1_Missense_Mutation_p.G269V	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	628					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						GTCTCTACAGGAGTGGCCATA	0.537																																																	0													105	85	92					16																	19483510		2197	4300	6497	SO:0001583	missense	0			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.1883G>T	16.37:g.19483510G>T	ENSP00000379531:p.Gly628Val		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	pfam_TMC	p.G628V	ENST00000396229.2	37	c.1883	CCDS45431.1	16	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094805	0.36952	.	.	ENSG00000103534	ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.78	4.82	0.62117	.	0.486689	0.22077	N	0.064944	T	0.64091	0.2567	M	0.80183	2.485	0.45634	D	0.998567	P;D;D;D;D	0.89917	0.63;0.999;0.998;1.0;1.0	P;D;D;D;D	0.81914	0.459;0.984;0.965;0.99;0.995	T	0.63633	-0.6593	10	0.15066	T	0.55	-9.6834	15.8699	0.79108	0.0:0.1362:0.8638:0.0	.	311;382;382;628;628	E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;TMC5_HUMAN;.	V	628;628;628;382;311	ENSP00000370822:G628V;ENSP00000379531:G628V;ENSP00000446274:G628V;ENSP00000219821:G382V	ENSP00000219821:G382V	G	+	2	0	TMC5	19391011	0.996000	0.38824	0.019000	0.16419	0.043000	0.13939	3.296000	0.51802	1.436000	0.47453	0.650000	0.86243	GGA	TMC5	-	NULL	ENSG00000103534		0.537	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	-	0	39	0	G	NM_024780		19483510	1	tier1	-	no_errors	ENST00000396229	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.448	T	T	19483510	G	T	19483510	3	4	182	1	0	0	0	0	1	0	0	0	16035	1174	41	3	2231	3	TMC5	16	19483510	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	15075514	19483510	70871243	213	45389											
GPRC5B	51704	genome.wustl.edu	37	chr16	19883970	19883970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagtgtgatcagggcGcccgccccggccaccgcctc	6	4	14	17	4	1	1	1	1	0	0	2	2	1	2	6	3	1	1	6	3	0	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:19883970G>A	ENST00000300571.2	-	2	389	c.198C>T	c.(196-198)ggC>ggT	p.G66G	GPRC5B_ENST00000535671.1_Silent_p.G66G|GPRC5B_ENST00000537135.1_Silent_p.G92G|GPRC5B_ENST00000569479.1_Silent_p.G66G|GPRC5B_ENST00000569847.1_Silent_p.G66G	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	66					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGATCAGGGCGCCCGCCCCGG	0.642																																																	0																																										SO:0001819	synonymous_variant	0			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.198C>T	16.37:g.19883970G>A			D2DFB0|O75205|Q8NBZ8	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.G92	ENST00000300571.2	37	c.276	CCDS10581.1	16																																																																																			GPRC5B	-	pfam_GPCR_3_C	ENSG00000167191		0.642	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	HGNC	protein_coding	OTTHUMT00000254285.1	-	0	92	0	G			19883970	-1	tier1	-	no_errors	ENST00000537135	ensembl	human	known	74_37	silent	21.13	56	15	SNP	0.866	A	A	19883970	G	A	19883970	2	1	182	1	0	0	0	0	0	0	0	1	6752	1074	38	1		1	GPRC5B	16	19883970	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	400460	19883970	70470783	214	45390											
DCUN1D3	123879	genome.wustl.edu	37	chr16	20873771	20873771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtggcctgcacccctcctGctatgtgacttgttgctggg	3	12	13	13	1	0	1	0	1	0	0	1	1	1	1	4	3	3	4	4	3	1	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:20873771G>T	ENST00000324344.4	-	2	375	c.90C>A	c.(88-90)agC>agA	p.S30R	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.S30R|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	30					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)		CACCCCTCCTGCTATGTGACT	0.597																																																	0													226	206	213					16																	20873771		2201	4300	6501	SO:0001583	missense	0			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.90C>A	16.37:g.20873771G>T	ENSP00000319482:p.Ser30Arg		B3KVY4	Missense_Mutation	SNP	pfam_PONY_dom	p.S30R	ENST00000324344.4	37	c.90	CCDS10592.1	16	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869578	0.33069	.	.	ENSG00000188215	ENST00000324344	.	.	.	6.07	-1.09	0.09904	.	0.413204	0.33496	N	0.004857	T	0.30417	0.0764	L	0.44542	1.39	0.32591	N	0.527161	B	0.23128	0.08	B	0.17433	0.018	T	0.30268	-0.9984	9	0.15066	T	0.55	-8.3878	7.4078	0.27001	0.3405:0.1097:0.5498:0.0	.	30	Q8IWE4	DCNL3_HUMAN	R	30	.	ENSP00000319482:S30R	S	-	3	2	DCUN1D3	20781272	1.000000	0.71417	0.867000	0.34043	0.956000	0.61745	0.683000	0.25349	-0.036000	0.13669	0.655000	0.94253	AGC	DCUN1D3	-	NULL	ENSG00000188215		0.597	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D3	HGNC	protein_coding	OTTHUMT00000254415.2	-	0	58	0	G	NM_173475		20873771	-1	tier1	-	no_errors	ENST00000324344	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.994	T	T	20873771	G	T	20873771	3	4	182	1	0	0	0	0	1	0	0	0	4324	1310	46	3	832	3	DCUN1D3	16	20873771	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	989801	20873771	69480982	215	45391											
RABEP2	79874	genome.wustl.edu	37	chr16	28920007	28920007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgaggatggcagctgctCggcccggagcccttggtttt	4	10	16	11	2	0	1	0	1	0	0	1	3	0	3	2	6	3	5	2	6	0	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:28920007C>T	ENST00000358201.4	-	8	1756	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	RABEP2_ENST00000357573.6_Missense_Mutation_p.E358K|RABEP2_ENST00000544477.1_Missense_Mutation_p.E319K	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	390					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						GGCAGCTGCTCGGCCCGGAGC	0.602																																					Pancreas(66;639 1284 10093 31061 49099)												0													96	104	101					16																	28920007		2010	4177	6187	SO:0001583	missense	0			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.1168G>A	16.37:g.28920007C>T	ENSP00000350934:p.Glu390Lys			Missense_Mutation	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.E390K	ENST00000358201.4	37	c.1168	CCDS42140.1	16	.	.	.	.	.	.	.	.	.	.	C	5.406	0.260126	0.10239	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.50277	0.75;0.75;0.75	4.78	3.75	0.43078	Rabaptin, GTPase-Rab5 binding (1);	0.734841	0.11882	N	0.520426	T	0.31040	0.0784	N	0.20530	0.585	0.27750	N	0.94418	P;P;B	0.44006	0.824;0.789;0.045	B;B;B	0.35413	0.202;0.128;0.02	T	0.17745	-1.0359	10	0.66056	D	0.02	-21.7569	11.7519	0.51853	0.0:0.8042:0.1958:0.0	.	319;358;390	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	K	390;358;319	ENSP00000350934:E390K;ENSP00000350186:E358K;ENSP00000442798:E319K	ENSP00000350186:E358K	E	-	1	0	RABEP2	28827508	0.852000	0.29690	0.995000	0.50966	0.820000	0.46376	1.421000	0.34815	2.210000	0.71456	0.462000	0.41574	GAG	RABEP2	-	pfam_Rabaptin_Rab5-bd_dom	ENSG00000177548		0.602	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RABEP2	HGNC	protein_coding	OTTHUMT00000432691.1	-	0	84	0	C	NM_024816		28920007	-1	tier1	-	no_errors	ENST00000358201	ensembl	human	known	74_37	missense	32.31	44	21	SNP	0.792	T	T	28920007	C	T	28920007	3	4	182	1	0	0	0	0	1	0	0	0	13007	893	31	1	565	1	RABEP2	16	28920007	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	8046236	28920007	61434746	216	45392											
CBLN1	869	genome.wustl.edu	37	chr16	49313380	49313380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccccatcaagtttccccGctccagcttgaggtatgctc	6	10	8	17	1	1	1	1	1	0	0	4	1	3	1	6	1	2	5	6	1	2	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:49313380G>A	ENST00000219197.6	-	3	882	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	CBLN1_ENST00000536749.1_Missense_Mutation_p.R173W	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	173	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				AAGTTTCCCCGCTCCAGCTTG	0.607																																																	0													109	105	106					16																	49313380		2200	4300	6500	SO:0001583	missense	0			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.517C>T	16.37:g.49313380G>A	ENSP00000219197:p.Arg173Trp		B2RAN9|P02682|Q52M09	Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.R173W	ENST00000219197.6	37	c.517	CCDS10736.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024287	0.75390	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	T;T	0.75938	-0.98;-0.98	5.49	5.49	0.81192	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.056391	0.64402	D	0.000002	D	0.85366	0.5680	M	0.79123	2.44	0.58432	D	0.999994	D	0.89917	1.0	D	0.74674	0.984	D	0.86671	0.1910	10	0.87932	D	0	-14.3437	13.73	0.62781	0.0:0.0:0.7449:0.2551	.	173	P23435	CBLN1_HUMAN	W	173	ENSP00000219197:R173W;ENSP00000444651:R173W	ENSP00000219197:R173W	R	-	1	2	CBLN1	47870881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.046000	0.49846	2.716000	0.92895	0.655000	0.94253	CGG	CBLN1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q	ENSG00000102924		0.607	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN1	HGNC	protein_coding	OTTHUMT00000256845.4	-	0	106	0	G	NM_004352		49313380	-1	tier1	-	no_errors	ENST00000219197	ensembl	human	known	74_37	missense	21.69	65	18	SNP	1.000	A	A	49313380	G	A	49313380	3	1	182	1	0	0	0	0	1	0	0	0	2711	1086	38	1	68	1	CBLN1	16	49313380	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	20393373	49313380	41041373	217	45393											
CYLD	1540	genome.wustl.edu	37	chr16	50818332	50818332	+	Missense_Mutation	SNP	T	T	C	0	1	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	tagtgaaacccaagagctacTgaggacagaaattgttaatc	16	9	9	7	0	0	4	0	2	0	2	1	5	0	5	1	1	3	2	1	1	6	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:50818332T>C	ENST00000427738.3	+	11	2124	c.1919T>C	c.(1918-1920)cTg>cCg	p.L640P	RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Missense_Mutation_p.L637P|CYLD_ENST00000564326.1_Missense_Mutation_p.L637P|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000540145.1_Missense_Mutation_p.L640P|CYLD_ENST00000311559.9_Missense_Mutation_p.L640P|CYLD_ENST00000568704.2_Missense_Mutation_p.L455P|CYLD_ENST00000566206.1_Missense_Mutation_p.L637P|CYLD_ENST00000398568.2_Missense_Mutation_p.L637P			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	640	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)				CAAGAGCTACTGAGGACAGAA	0.338			"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													101	96	97					16																	50818332		1833	4082	5915	SO:0001583	missense	0	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.1919T>C	16.37:g.50818332T>C	ENSP00000392025:p.Leu640Pro		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67	p.L640P	ENST00000427738.3	37	c.1919	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441337	0.83993	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.76060	-0.99;-0.99;-0.99	5.54	5.54	0.83059	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.87633	0.2517	10	0.87932	D	0	-11.6679	15.971	0.80019	0.0:0.0:0.0:1.0	.	637;640;637;640	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	P	640;640;637;637	ENSP00000445447:L640P;ENSP00000308928:L640P;ENSP00000381574:L637P	ENSP00000308928:L640P	L	+	2	0	CYLD	49375833	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.358000	0.79466	2.223000	0.72356	0.533000	0.62120	CTG	CYLD	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000083799		0.338	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2	-	0	70	0	T			50818332	1	tier1	-	no_errors	ENST00000311559	ensembl	human	known	74_37	missense	5.50	103	6	SNP	1.000	C	C	50818332	T	C	50818332	3	2	182	1	0	0	0	0	1	0	0	0	4152	1580	55	4	1957	4	CYLD	16	50818332	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	1504952	50818332	39536421	218	45394											
SF3B3	23450	genome.wustl.edu	37	chr16	70604024	70604024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccttgtctggaggaattgGcatccttgtgccattcacgt	7	13	10	11	1	2	0	1	0	1	0	3	2	3	2	3	3	1	1	3	3	1	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:70604024G>A	ENST00000302516.5	+	24	3591	c.3380G>A	c.(3379-3381)gGc>gAc	p.G1127D		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1127					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)				GGAGGAATTGGCATCCTTGTG	0.517																																																	0													187	130	149					16																	70604024		2198	4300	6498	SO:0001583	missense	0			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.3380G>A	16.37:g.70604024G>A	ENSP00000305790:p.Gly1127Asp		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.G1127D	ENST00000302516.5	37	c.3380	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.377678	0.95945	.	.	ENSG00000189091	ENST00000302516	T	0.57907	0.37	5.66	5.66	0.87406	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81621	0.4861	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86306	0.1683	10	0.87932	D	0	.	19.7566	0.96296	0.0:0.0:1.0:0.0	.	1127	Q15393	SF3B3_HUMAN	D	1127	ENSP00000305790:G1127D	ENSP00000305790:G1127D	G	+	2	0	SF3B3	69161525	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.768000	0.98965	2.671000	0.90904	0.563000	0.77884	GGC	SF3B3	-	pfam_Cleavage/polyA-sp_fac_asu_C	ENSG00000189091		0.517	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1		0	31	0	G	NM_012426		70604024	1			no_errors	ENST00000302516	ensembl	human	known	74_37	missense	5.26	53	3	SNP	1.000	A	A	70604024	G	A	70604024	3	1	182	1	0	0	0	0	1	0	0	0	14197	1203	42	3	3470	3	SF3B3	16	70604024	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	19785692	70604024	19750729	219	45395											
HYDIN	54768	genome.wustl.edu	37	chr16	70884449	70884449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacattcatagtgtagccctCggccttgacatttaatgtca	10	13	7	11	1	2	1	2	1	0	0	3	1	2	1	2	1	1	1	2	1	3	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:70884449C>T	ENST00000393567.2	-	74	12703	c.12553G>A	c.(12553-12555)Gag>Aag	p.E4185K	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4185					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)		p.E4136K(2)|p.E4184K(2)		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)				GTGTAGCCCTCGGCCTTGACA	0.433																																																	4	Substitution - Missense(4)	breast(4)											26	24	24					16																	70884449		1804	4055	5859	SO:0001583	missense	0			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.12553G>A	16.37:g.70884449C>T	ENSP00000377197:p.Glu4185Lys		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.E4185K	ENST00000393567.2	37	c.12553	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380412	0.61845	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01113	5.32	5.56	3.6	0.41247	.	0.647023	0.11835	U	0.524801	T	0.04318	0.0119	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.55673	-0.8104	10	0.26408	T	0.33	.	6.5989	0.22689	0.0:0.6794:0.1694:0.1512	.	4184	F8WD23	.	K	4185;4184	ENSP00000377197:E4185K	ENSP00000313052:E4184K	E	-	1	0	HYDIN	69441950	0.848000	0.29623	0.958000	0.39756	0.559000	0.35586	1.344000	0.33941	1.338000	0.45544	0.511000	0.50034	GAG	HYDIN	-	NULL	ENSG00000157423		0.433	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	34	0	C			70884449	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	70.73	12	29	SNP	0.831	T	T	70884449	C	T	70884449	3	4	182	1	0	0	0	0	1	0	0	0	7494	893	31	1	2864	1	HYDIN	16	70884449	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	280425	70884449	19470304	220	45396											
ZFHX3	463	genome.wustl.edu	37	chr16	72828297	72828297	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccgtcaaaaatatctcCtttcatctggagtcccccat	10	13	5	13	1	4	0	2	0	2	0	7	1	6	1	4	1	0	1	4	1	3	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:72828297C>A	ENST00000268489.5	-	9	8956	c.8284G>T	c.(8284-8286)Gga>Tga	p.G2762*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.G1848*|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2762					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)				AAAATATCTCCTTTCATCTGG	0.507																																																	0													65	65	65					16																	72828297		2198	4300	6498	SO:0001587	stop_gained	0			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.8284G>T	16.37:g.72828297C>A	ENSP00000268489:p.Gly2762*		D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.G2762*	ENST00000268489.5	37	c.8284	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	51	18.394785	0.99904	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.97	5.97	0.96955	.	0.000000	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	.	.	.	X	2762;1848	.	ENSP00000268489:G2762X	G	-	1	0	ZFHX3	71385798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.805000	0.62561	2.828000	0.97474	0.655000	0.94253	GGA	ZFHX3	-	NULL	ENSG00000140836		0.507	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0	35	0	C	NM_006885		72828297	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	nonsense	80.00	10	40	SNP	1.000	A	A	72828297	C	A	72828297	4	1	182	1	0	0	0	0	0	1	0	0	17682	690	24	3	2835	3	ZFHX3	16	72828297	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	1943848	72828297	17526456	221	45397											
SLC38A8	146167	genome.wustl.edu	37	chr16	84075670	84075670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcggacttcatgaggatGaagacagcgcccatcgagga	12	5	14	10	4	1	3	1	2	0	1	2	7	1	6	1	3	2	0	1	3	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr16:84075670G>T	ENST00000299709.3	-	1	92	c.93C>A	c.(91-93)ttC>ttA	p.F31L	RNA5SP432_ENST00000362480.1_RNA	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	31					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCATGAGGATGAAGACAGCGC	0.632																																																	0													92	102	99					16																	84075670		2200	4300	6500	SO:0001583	missense	0				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.93C>A	16.37:g.84075670G>T	ENSP00000299709:p.Phe31Leu			Missense_Mutation	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.F31L	ENST00000299709.3	37	c.93	CCDS32495.1	16	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054633	0.55218	.	.	ENSG00000166558	ENST00000299709	T	0.02085	4.46	5.01	3.03	0.35002	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	M	0.85542	2.76	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.00673	-1.1616	10	0.59425	D	0.04	-2.1982	11.2546	0.49045	0.1504:0.0:0.8496:0.0	.	31	A6NNN8	S38A8_HUMAN	L	31	ENSP00000299709:F31L	ENSP00000299709:F31L	F	-	3	2	SLC38A8	82633171	1.000000	0.71417	0.921000	0.36526	0.041000	0.13682	2.951000	0.49089	1.110000	0.41699	0.650000	0.86243	TTC	SLC38A8	-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	ENSG00000166558		0.632	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	HGNC	protein_coding	OTTHUMT00000432623.1	-	0	54	0	G	NM_001080442		84075670	-1	tier1	-	no_errors	ENST00000299709	ensembl	human	known	74_37	missense	79.25	22	84	SNP	1.000	T	T	84075670	G	T	84075670	3	4	182	1	0	0	0	0	1	0	0	0	14655	1281	45	3	1254	3	SLC38A8	16	84075670	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	11247373	84075670	6279083	222	45398											
NXN	64359	genome.wustl.edu	37	chr17	704261	704261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacgatggcgggggtgatCtcctccacgtccatcacgta	7	9	11	14	4	2	1	1	1	1	0	6	2	5	1	4	3	0	1	4	3	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:704261C>G	ENST00000336868.3	-	8	1327	c.1236G>C	c.(1234-1236)gaG>gaC	p.E412D	NXN_ENST00000537628.2_Missense_Mutation_p.E163D|NXN_ENST00000538650.1_Missense_Mutation_p.E103D|NXN_ENST00000575801.1_Missense_Mutation_p.E304D	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	412					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CGGGGGTGATCTCCTCCACGT	0.587																																																	0													72	65	67					17																	704261		2203	4300	6503	SO:0001583	missense	0				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.1236G>C	17.37:g.704261C>G	ENSP00000337443:p.Glu412Asp		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.E412D	ENST00000336868.3	37	c.1236	CCDS10998.1	17	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027241	0.93518	.	.	ENSG00000167693	ENST00000336868;ENST00000538650;ENST00000537628	T;T	0.34072	1.38;2.51	5.99	5.02	0.67125	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	L	0.37630	1.12	0.80722	D	1	D;D;D	0.69078	0.979;0.974;0.997	D;D;D	0.79108	0.973;0.953;0.992	T	0.13282	-1.0515	10	0.28530	T	0.3	-30.7004	13.391	0.60825	0.0:0.9246:0.0:0.0754	.	304;103;412	B4DXQ0;B4DNN6;Q6DKJ4	.;.;NXN_HUMAN	D	412;103;304	ENSP00000337443:E412D;ENSP00000445087:E103D	ENSP00000337443:E412D	E	-	3	2	NXN	651011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.317000	0.51968	2.840000	0.97914	0.655000	0.94253	GAG	NXN	-	superfamily_Thioredoxin-like_fold	ENSG00000167693		0.587	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXN	HGNC	protein_coding	OTTHUMT00000206669.1	-	0	100	0	C			704261	-1	tier1	-	no_errors	ENST00000336868	ensembl	human	known	74_37	missense	41.18	50	35	SNP	1.000	G	G	704261	C	G	704261	3	3	182	1	0	0	0	0	1	0	0	0	10826	912	32	5	75	5	NXN	17	704261	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09		704261	80490949	223	45399											
NLRP1	22861	genome.wustl.edu	37	chr17	5486100	5486100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggcattagcactgcggtgGaggtgggttggctgggagac	7	8	20	6	1	0	1	0	0	0	1	0	3	0	2	0	7	2	4	0	7	1	2	rs201858694		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:5486100G>A	ENST00000572272.1	-	2	337	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.S113F|NLRP1_ENST00000354411.3_Missense_Mutation_p.S113F|NLRP1_ENST00000262467.5_Missense_Mutation_p.S113F|NLRP1_ENST00000577119.1_Missense_Mutation_p.S113F|NLRP1_ENST00000345221.3_Missense_Mutation_p.S113F			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	113					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)				CACTGCGGTGGAGGTGGGTTG	0.587																																																	0													48	46	46					17																	5486100		2203	4300	6503	SO:0001583	missense	0			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.338C>T	17.37:g.5486100G>A	ENSP00000460475:p.Ser113Phe		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.S113F	ENST00000572272.1	37	c.338	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857041	0.51376	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.74632	-0.86;-0.86;-0.83;-0.82;-0.83	2.85	2.85	0.33270	.	.	.	.	.	T	0.75398	0.3844	L	0.29908	0.895	0.09310	N	1	D;D;D;D;D	0.71674	0.998;0.998;0.995;0.998;0.99	D;D;P;D;P	0.68943	0.961;0.961;0.852;0.961;0.723	T	0.62129	-0.6919	9	0.37606	T	0.19	.	9.3633	0.38208	0.0:0.0:1.0:0.0	.	113;113;113;113;113	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	F	113	ENSP00000442029:S113F;ENSP00000262467:S113F;ENSP00000269280:S113F;ENSP00000346390:S113F;ENSP00000324366:S113F	ENSP00000262467:S113F	S	-	2	0	NLRP1	5426824	0.904000	0.30761	0.012000	0.15200	0.002000	0.02628	2.899000	0.48679	1.895000	0.54865	0.555000	0.69702	TCC	NLRP1	-	NULL	ENSG00000091592		0.587	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	-	0	76	0	G	NM_033004		5486100	-1	tier1	rs201858694	no_errors	ENST00000572272	ensembl	human	known	74_37	missense	42.86	32	24	SNP	0.013	A	A	5486100	G	A	5486100	3	1	182	1	0	0	0	0	1	0	0	0	10510	1174	41	3	4222	3	NLRP1	17	5486100	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	4781839	5486100	75709110	224	45400											
SLC13A5	284111	genome.wustl.edu	37	chr17	6606342	6606342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcccggtcagggtggcGgtgcccccgatgctggccgc	2	6	16	17	5	1	0	1	0	0	0	2	1	2	0	5	5	2	1	5	5	0	0	rs373831482		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:6606342G>A	ENST00000433363.2	-	5	896	c.663C>T	c.(661-663)acC>acT	p.T221T	SLC13A5_ENST00000573648.1_Silent_p.T221T|SLC13A5_ENST00000381074.4_Silent_p.T178T|SLC13A5_ENST00000293800.6_Silent_p.T204T	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	221					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						TCAGGGTGGCGGTGCCCCCGA	0.637																																																	0								G	,	2,4404	4.2+/-10.8	0,2,2201	125	103	111		663,663	-10.9	0	17		111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC13A5	NM_001143838.1,NM_177550.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	221/523,221/569	6606342	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.663C>T	17.37:g.6606342G>A			B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.T221	ENST00000433363.2	37	c.663	CCDS11079.1	17																																																																																			SLC13A5	-	pfam_Na/sul_symport	ENSG00000141485		0.637	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A5	HGNC	protein_coding	OTTHUMT00000219853.2	-	0	49	0	G	NM_177550		6606342	-1	tier1	-	no_errors	ENST00000433363	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.001	A	A	6606342	G	A	6606342	2	1	182	1	0	0	0	0	0	0	0	1	14440	1103	39	1		1	SLC13A5	17	6606342	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	1120242	6606342	74588868	225	45401											
TP53	7157	genome.wustl.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C	0	1	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	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	GRCh37	CM083194|CM951225	TP53	M							97	87	90					17																	7578271		2203	4300	6503	SO:0001583	missense	0	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.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.H193R	ENST00000269305.4	37	c.578	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	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	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	66	0	T	NM_000546		7578271	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	69.66	27	62	SNP	0.998	C	C	7578271	T	C	7578271	3	2	182	1	0	0	0	0	1	0	0	0	16429	1464	51	4	716	4	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	971929	7578271	73616939	226	45402											
PFAS	5198	genome.wustl.edu	37	chr17	8158990	8158990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggccggcttgcgctggaGaaggccaaccaggagcttgg	8	5	18	10	2	0	1	0	0	0	1	0	4	0	2	3	6	3	3	3	6	2	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:8158990G>C	ENST00000314666.6	+	5	688	c.555G>C	c.(553-555)gaG>gaC	p.E185D	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	185					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.E185E(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TTGCGCTGGAGAAGGCCAACC	0.587																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											45	44	44					17																	8158990		2203	4300	6503	SO:0001583	missense	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.555G>C	17.37:g.8158990G>C	ENSP00000313490:p.Glu185Asp		A6H8V8	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	p.E185D	ENST00000314666.6	37	c.555	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927830	0.73327	.	.	ENSG00000178921	ENST00000314666	T	0.35789	1.29	5.55	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.85710	2.77	0.80722	D	1	D	0.55800	0.973	P	0.51229	0.663	T	0.35400	-0.9790	10	0.36615	T	0.2	-26.0032	4.377	0.11275	0.2464:0.0:0.5954:0.1581	.	185	O15067	PUR4_HUMAN	D	185	ENSP00000313490:E185D	ENSP00000313490:E185D	E	+	3	2	PFAS	8099715	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.926000	0.40084	0.296000	0.22592	0.462000	0.41574	GAG	PFAS	-	tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.587	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	-	0	98	0	G			8158990	1	tier1	-	no_errors	ENST00000314666	ensembl	human	known	74_37	missense	53.10	52	60	SNP	1.000	C	C	8158990	G	C	8158990	3	2	182	1	0	0	0	0	1	0	0	0	11793	933	33	5	569	5	PFAS	17	8158990	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	580719	8158990	73036220	227	45403											
USP43	124739	genome.wustl.edu	37	chr17	9549132	9549132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgacggtgaggggggcttCgcctgcgccccgggcccagt	3	5	19	14	5	0	1	0	1	0	0	1	2	0	1	4	6	1	1	4	6	0	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:9549132C>T	ENST00000285199.7	+	1	279	c.183C>T	c.(181-183)ttC>ttT	p.F61F	RP11-55L4.1_ENST00000572923.1_RNA|USP43_ENST00000570475.1_Silent_p.F61F|RP11-55L4.2_ENST00000584676.1_RNA|USP43_ENST00000570827.2_Intron	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	61					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGGGGGGCTTCGCCTGCGCCC	0.791																																																	0													1	1	1					17																	9549132		759	1844	2603	SO:0001819	synonymous_variant	0			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.183C>T	17.37:g.9549132C>T			A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.F61	ENST00000285199.7	37	c.183	CCDS45610.1	17																																																																																			USP43	-	NULL	ENSG00000154914		0.791	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	-	0	17	0	C	NM_153210		9549132	1	tier1	-	no_errors	ENST00000285199	ensembl	human	known	74_37	silent	40.00	12	8	SNP	0.038	T	T	9549132	C	T	9549132	2	4	182	1	0	0	0	0	0	0	0	1	17123	883	31	1		1	USP43	17	9549132	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	1390142	9549132	71646078	228	45404											
ZNF287	57336	genome.wustl.edu	37	chr17	16469934	16469934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaagggtagagttttgagGagctagagaagagaaagagg	16	6	18	1	0	0	5	0	1	0	4	0	9	0	7	0	4	1	3	0	4	5	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:16469934G>T	ENST00000395824.1	-	3	1023	c.406C>A	c.(406-408)Cct>Act	p.P136T	ZNF287_ENST00000461555.1_5'Flank|ZNF287_ENST00000395825.3_Missense_Mutation_p.P136T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	129					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GAGTTTTGAGGAGCTAGAGAA	0.453																																																	0													128	134	132					17																	16469934		2203	4300	6503	SO:0001583	missense	0			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.406C>A	17.37:g.16469934G>T	ENSP00000379168:p.Pro136Thr		Q6IAG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P136T	ENST00000395824.1	37	c.406	CCDS11179.2	17	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342878	0.41498	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.05382	3.45;3.45	4.28	4.28	0.50868	Transcription regulator SCAN (1);	0.000000	0.44097	D	0.000492	T	0.11580	0.0282	L	0.46157	1.445	0.32541	N	0.533682	P	0.45634	0.863	P	0.50405	0.64	T	0.01294	-1.1393	10	0.48119	T	0.1	.	12.5419	0.56174	0.0:0.0:1.0:0.0	.	129	Q9HBT7	ZN287_HUMAN	T	136	ENSP00000379169:P136T;ENSP00000379168:P136T	ENSP00000379168:P136T	P	-	1	0	ZNF287	16410659	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	1.953000	0.40352	2.677000	0.91161	0.655000	0.94253	CCT	ZNF287	-	smart_Tscrpt_reg_SCAN	ENSG00000141040		0.453	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	HGNC	protein_coding	OTTHUMT00000130504.1	-	0	33	0	G			16469934	-1	tier1	-	no_errors	ENST00000395824	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.996	T	T	16469934	G	T	16469934	3	4	182	1	0	0	0	0	1	0	0	0	17873	1174	41	3	1895	3	ZNF287	17	16469934	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	6920802	16469934	64725276	229	45405											
SMCR8	140775	genome.wustl.edu	37	chr17	18219700	18219701	+	Nonsense_Mutation	DNP	GA	GA	AT																															ggggaacttgaaaaaaagctGaaagacttggattacaccag																										TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:18219700_18219701GA>AT	ENST00000406438.3	+	1	1077_1078	c.597_598GA>AT	c.(595-600)ctGAaa>ctATaa	p.K200*	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	200						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						AAAAAAAGCTGAAAGACTTGGA	0.465																																																	0																																										SO:0001587	stop_gained	0			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	Exception_encountered	17.37:g.18219700_18219701delinsAT	ENSP00000385025:p.Lys200*		A5PKZ5|Q3ZCN0|Q6PJL3	Silent|Nonsense_Mutation	SNP	pfam_Folliculin	p.L199|p.K200*	ENST00000406438.3	37	c.597|c.598	CCDS11195.2	17																																																																																			SMCR8	-	pfam_Folliculin	ENSG00000176994		0.465	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2		0	29	0	G|A	NM_144775		18219700|18219701	1			no_errors	ENST00000406438	ensembl	human	known	74_37	silent|nonsense	10.00|9.68	27|28	3	SNP	0.983|0.998	A|T	AT	18219701	GA	AT	18219700	4	1	182	1	0	0	0	0	0	1	0	0	14837	1277	45	3	599	3	SMCR8	17	18219700	Nonsense_Mutation	DNP	GA	TCGA-Z6-A8JE-01A-11D-A37C-09	1749766	18219700	62975510	230	45406											
SUPT6H	6830	genome.wustl.edu	37	chr17	27002024	27002024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaaaaaatgtcagatgacGaggacgatgacgaggaggaa	18	5	13	5	3	2	3	2	2	0	1	2	9	2	6	0	3	0	0	0	3	4	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:27002024G>A	ENST00000314616.6	+	5	665	c.382G>A	c.(382-384)Gag>Aag	p.E128K	AC010761.13_ENST00000578819.1_RNA|SUPT6H_ENST00000347486.4_Missense_Mutation_p.E128K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	128	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				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)					GTCAGATGACGAGGACGATGA	0.498																																																	0													84	78	80					17																	27002024		2203	4300	6503	SO:0001583	missense	0			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.382G>A	17.37:g.27002024G>A	ENSP00000319104:p.Glu128Lys		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E128K	ENST00000314616.6	37	c.382	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718906	0.68844	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.41	5.41	0.78517	.	0.098602	0.64402	D	0.000002	T	0.54870	0.1885	M	0.75615	2.305	0.58432	D	0.999993	P	0.43352	0.804	B	0.26770	0.073	T	0.64935	-0.6290	9	0.49607	T	0.09	-16.8028	19.558	0.95361	0.0:0.0:1.0:0.0	.	128	Q7KZ85	SPT6H_HUMAN	K	128	.	ENSP00000319104:E128K	E	+	1	0	SUPT6H	24026151	1.000000	0.71417	0.994000	0.49952	0.573000	0.36030	8.702000	0.91338	2.697000	0.92050	0.655000	0.94253	GAG	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	48	0	G	NM_003170		27002024	1	tier1	-	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	21.21	51	14	SNP	1.000	A	A	27002024	G	A	27002024	3	1	182	1	0	0	0	0	1	0	0	0	15447	1059	37	1	396	1	SUPT6H	17	27002024	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	8782324	27002024	54193186	231	45407											
MRPL45	84311	genome.wustl.edu	37	chr17	36476532	36476532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacatcaaatataagaccGtccgctggagctttgtggaa	12	9	12	8	2	1	1	1	0	0	1	2	4	2	4	2	3	1	2	2	3	4	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:36476532G>T	ENST00000312513.5	+	6	702	c.541G>T	c.(541-543)Gtc>Ttc	p.V181F		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	181						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATATAAGACCGTCCGCTGGAG	0.483																																																	0													197	184	189					17																	36476532		2203	4300	6503	SO:0001583	missense	0			BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"Mitochondrial ribosomal proteins / large subunits"	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.541G>T	17.37:g.36476532G>T	ENSP00000308901:p.Val181Phe		A1L436|Q6ZMJ5	Missense_Mutation	SNP	pfam_Tim44-like_dom,smart_Tim44-like_dom	p.V181F	ENST00000312513.5	37	c.541	CCDS11326.1	17	.	.	.	.	.	.	.	.	.	.	G	8.897	0.955400	0.18507	.	.	ENSG00000174100	ENST00000312513	T	0.76578	-1.03	5.0	5.0	0.66597	.	0.122675	0.53938	D	0.000042	T	0.82070	0.4957	L	0.58101	1.795	0.43798	D	0.996347	D	0.71674	0.998	D	0.67900	0.954	T	0.81602	-0.0858	10	0.49607	T	0.09	-13.9395	6.3672	0.21461	0.2172:0.0:0.7828:0.0	.	181	Q9BRJ2	RM45_HUMAN	F	181	ENSP00000308901:V181F	ENSP00000308901:V181F	V	+	1	0	MRPL45	33730059	1.000000	0.71417	0.718000	0.30602	0.377000	0.30045	4.485000	0.60279	2.593000	0.87608	0.455000	0.32223	GTC	MRPL45	-	pfam_Tim44-like_dom,smart_Tim44-like_dom	ENSG00000174100		0.483	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	MRPL45	HGNC	protein_coding	OTTHUMT00000256792.3		0	35	0	G	NM_032351		36476532	1			no_errors	ENST00000312513	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.857	T	T	36476532	G	T	36476532	3	4	182	1	0	0	0	0	1	0	0	0	9847	1145	40	2	493	2	MRPL45	17	36476532	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	9474508	36476532	44718678	232	45408											
KRT10	3858	genome.wustl.edu	37	chr17	38975315	38975317	+	Missense_Mutation	TNP	TGG	TGG	GAA																															cgccgccggaactgccgccgTggccgccgccgtggccgccg																										TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T|G|G	T|G|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:38975315_38975317TGG>GAA	ENST00000269576.5	-	7	1479_1481	c.1470_1472CCA>TTC	c.(1468-1473)ggCCAc>ggTTCc	p.H491S	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)				actgccgccgtggccgccgccgt	0.798																																																	0																																										SO:0001583	missense	0			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.1470_1472CCA>TTC	17.37:g.38975315TGG>GAA	ENSP00000269576:p.His491Ser		Q14664|Q8N175	Missense_Mutation|Missense_Mutation|Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.H491P|p.H491Y|p.G490	ENST00000269576.5	37	c.1472|c.1471|c.1470	CCDS11377.1	17																																																																																			KRT10	-	NULL	ENSG00000186395		0.798	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1		0	13|13|12	0	T|G|G	NM_000421		38975315|38975316|38975317	-1			no_errors	ENST00000269576	ensembl	human	known	74_37	missense|missense|silent	19.05|21.05|27.78	16|15|12	4|4|5	SNP	0.060|0.001|0.098	G|A|A	GAA	38975317	TGG	GAA	38975315	3	3	182	1	0	0	0	0	1	0	0	0	8475	1696	59	4	290	4	KRT10	17	38975315	Missense_Mutation	TNP	TGG	TCGA-Z6-A8JE-01A-11D-A37C-09	2498783	38975315	42219895	233	45409											
MBTD1	54799	genome.wustl.edu	37	chr17	49296311	49296311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcttttgtctttgcttgaTtttgcaaggtagcttgatac	6	19	9	7	0	1	2	0	2	1	0	1	2	1	2	0	1	5	5	0	1	3	9			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:49296311T>C	ENST00000586178.1	-	5	726	c.383A>G	c.(382-384)aAt>aGt	p.N128S	MBTD1_ENST00000376381.2_Missense_Mutation_p.N128S|MBTD1_ENST00000415868.1_Missense_Mutation_p.N128S	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	128					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CTTTGCTTGATTTTGCAAGGT	0.338																																																	0													213	160	176					17																	49296311		692	1591	2283	SO:0001583	missense	0			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.383A>G	17.37:g.49296311T>C	ENSP00000468304:p.Asn128Ser		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.N128S	ENST00000586178.1	37	c.383	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	T	6.088	0.384530	0.11524	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.22945	1.93;1.94	5.33	3.02	0.34903	.	17.098600	0.00166	N	0.000000	T	0.25754	0.0627	L	0.47716	1.5	0.51233	D	0.999916	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.002	T	0.25152	-1.0140	10	0.12766	T	0.61	.	8.9159	0.35581	0.0:0.205:0.0:0.795	.	128;128	Q05BQ5;Q05BQ5-2	MBTD1_HUMAN;.	S	128	ENSP00000403946:N128S;ENSP00000365561:N128S	ENSP00000365561:N128S	N	-	2	0	MBTD1	46651310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.945000	0.56637	0.868000	0.35678	0.459000	0.35465	AAT	MBTD1	-	NULL	ENSG00000011258		0.338	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	-	0	54	0	T			49296311	-1	tier1	-	no_errors	ENST00000415868	ensembl	human	known	74_37	missense	81.11	17	73	SNP	1.000	C	C	49296311	T	C	49296311	3	2	182	1	0	0	0	0	1	0	0	0	9398	1493	52	4	1555	4	MBTD1	17	49296311	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	10320996	49296311	31898899	234	45410											
FTSJ3	11325	genome.wustl.edu	37	chr17	61897353	61897353	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccagccttcttgtagaGactacaggggggaagagaag	13	6	14	8	0	1	2	0	0	1	2	1	5	1	3	2	3	3	1	2	3	5	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:61897353G>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Splice_Site_p.L785I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCTTGTAGAGACTACAGGGG	0.552																																																	0													103	101	102					17																	61897353		2203	4300	6503	SO:0001628	intergenic_variant	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897353G>T			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.L785I	ENST00000578681.1	37	c.2353	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434930	0.25813	.	.	ENSG00000108592	ENST00000427159	T	0.36520	1.25	4.77	4.77	0.60923	Ribosomal RNA methyltransferase, Spb1, C-terminal (1);	0.094394	0.43416	D	0.000563	T	0.18800	0.0451	N	0.11789	0.175	0.40042	D	0.975667	B	0.32409	0.37	B	0.30316	0.114	T	0.10382	-1.0632	10	0.21014	T	0.42	-13.0642	10.3993	0.44220	0.0:0.0:0.805:0.195	.	785	Q8IY81	RRMJ3_HUMAN	I	785	ENSP00000396673:L785I	ENSP00000396673:L785I	L	-	1	0	FTSJ3	59251085	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	6.674000	0.74487	2.475000	0.83589	0.467000	0.42956	CTC	FTSJ3	-	pfam_rRNA_MeTfrase_Spb1_C	ENSG00000108592		0.552	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444368.1	-	0	65	0	G	NM_007372		61897353	-1	tier1	-	no_errors	ENST00000427159	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	61897353	G	T	61897353	1	4	182	0	1	0	0	0	0	0	0	0	6113	956	33	3		3	FTSJ3	17	61897353	IGR	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	12601042	61897353	19297857	235	45411											
HELZ	9931	genome.wustl.edu	37	chr17	65074534	65074534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatggcgggcttgccccccGcagagctctgggggctactg	5	7	15	14	2	1	1	0	0	1	1	1	1	1	1	3	4	3	4	3	4	1	2	rs201422510		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:65074534G>T	ENST00000358691.5	-	33	5829	c.5663C>A	c.(5662-5664)gCg>gAg	p.A1888E	HELZ_ENST00000580168.1_Missense_Mutation_p.A1889E	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1888						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)					CTTGCCCCCCGCAGAGCTCTG	0.617																																																	0													66	71	69					17																	65074534		1900	4104	6004	SO:0001583	missense	0			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.5663C>A	17.37:g.65074534G>T	ENSP00000351524:p.Ala1888Glu		I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH	p.A1888E	ENST00000358691.5	37	c.5663	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	G	5.914	0.352748	0.11182	.	.	ENSG00000198265	ENST00000358691	D	0.84298	-1.83	5.46	-0.604	0.11626	.	0.972357	0.08510	N	0.935027	T	0.76378	0.3979	N	0.19112	0.55	0.09310	N	1	B;B	0.22146	0.065;0.065	B;B	0.22601	0.04;0.04	T	0.62473	-0.6847	10	0.72032	D	0.01	0.6009	13.1813	0.59655	0.1085:0.3585:0.533:0.0	.	1889;1888	B7ZLW2;P42694	.;HELZ_HUMAN	E	1888	ENSP00000351524:A1888E	ENSP00000351524:A1888E	A	-	2	0	HELZ	62504996	0.001000	0.12720	0.000000	0.03702	0.846000	0.48090	0.450000	0.21762	-0.351000	0.08249	-0.165000	0.13383	GCG	HELZ	-	NULL	ENSG00000198265		0.617	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1		0	32	0	G	NM_014877		65074534	-1			no_errors	ENST00000358691	ensembl	human	known	74_37	missense	7.69	47	4	SNP	0.001	T	T	65074534	G	T	65074534	3	4	182	1	0	0	0	0	1	0	0	0	7076	1087	38	2	169	2	HELZ	17	65074534	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	3177181	65074534	16120676	236	45412											
WBP2	23558	genome.wustl.edu	37	chr17	73843668	73843669	+	Frame_Shift_Ins	INS	-	-	A																															atcccatggccccgtccatcINSatggggggtcctggatagaa																								rs573593933		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:73843668_73843669insA	ENST00000591399.1	-	7	978_979	c.554_555insT	c.(553-555)atgfs	p.M185fs	WBP2_ENST00000344296.4_Frame_Shift_Ins_p.M163fs|UNC13D_ENST00000207549.4_5'Flank|WBP2_ENST00000254806.3_Frame_Shift_Ins_p.M185fs|WBP2_ENST00000590450.1_5'Flank|WBP2_ENST00000590221.1_Frame_Shift_Ins_p.M181fs|WBP2_ENST00000585462.1_Frame_Shift_Ins_p.M163fs|WBP2_ENST00000433525.2_Frame_Shift_Ins_p.M140fs			Q969T9	WBP2_HUMAN	WW domain binding protein 2	185	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCGTCCATCATGGGGGGTCC	0.678																																																	0																																										SO:0001589	frameshift_variant	0			U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.555dupT	17.37:g.73843669_73843669dupA	ENSP00000467579:p.Met185fs		O95638	Frame_Shift_Ins	INS	pfam_WW-domain-binding,pfam_GRAM	p.M185fs	ENST00000591399.1	37	c.555_554	CCDS11731.1	17																																																																																			WBP2	-	pfam_WW-domain-binding	ENSG00000132471		0.678	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2	HGNC	protein_coding	OTTHUMT00000448862.1		0	106	0	-	NM_012478		73843669	-1	tier1		no_errors	ENST00000254806	ensembl	human	known	74_37	frame_shift_ins	40.68	70	48	INS	1.000:1.000	A	A	73843669	-	A	73843668	7	5	182	1	0	1	1	0	0	0	0	0	17308	826	29	0	242	0	WBP2	17	73843668	Frame_Shift_Ins	INS	-	TCGA-Z6-A8JE-01A-11D-A37C-09	8769134	73843668	7351542	237	45413											
SLC38A10	124565	genome.wustl.edu	37	chr17	79226049	79226049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccggcggcgttgcctggcgGcggtccccccttggcctttt	0	10	14	17	5	0	0	0	0	0	0	1	0	1	0	6	6	1	1	6	6	0	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:79226049G>T	ENST00000374759.3	-	13	2274	c.1891C>A	c.(1891-1893)Ccg>Acg	p.P631T	SLC38A10_ENST00000288439.5_Missense_Mutation_p.P631T	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	631					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)			TTGCCTGGCGGCGGTCCCCCC	0.706																																																	0													29	36	34					17																	79226049		2193	4277	6470	SO:0001583	missense	0			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.1891C>A	17.37:g.79226049G>T	ENSP00000363891:p.Pro631Thr		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.P631T	ENST00000374759.3	37	c.1891	CCDS42397.1	17	.	.	.	.	.	.	.	.	.	.	G	3.606	-0.080500	0.07141	.	.	ENSG00000157637	ENST00000374759;ENST00000540966;ENST00000288439	T;T;T	0.44083	3.14;0.93;2.98	2.39	0.00687	0.14068	.	2580.400000	0.00166	N	0.000000	T	0.26085	0.0636	N	0.22421	0.69	0.09310	N	1	P;B	0.35982	0.531;0.41	B;B	0.32864	0.154;0.071	T	0.11867	-1.0570	10	0.12430	T	0.62	.	5.8407	0.18633	0.453:0.0:0.547:0.0	.	631;631	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	T	631;9;631	ENSP00000363891:P631T;ENSP00000437601:P9T;ENSP00000288439:P631T	ENSP00000288439:P631T	P	-	1	0	SLC38A10	76840644	0.001000	0.12720	0.002000	0.10522	0.029000	0.11900	0.946000	0.29069	0.214000	0.20742	0.282000	0.19409	CCG	SLC38A10	-	NULL	ENSG00000157637		0.706	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	-	0	77	0	G	NM_138570		79226049	-1	tier1	-	no_errors	ENST00000374759	ensembl	human	known	74_37	missense	5.88	80	5	SNP	0.001	T	T	79226049	G	T	79226049	3	4	182	1	0	0	0	0	1	0	0	0	14647	1203	42	3	1762	3	SLC38A10	17	79226049	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	5382381	79226049	1969161	238	45414											
CD7	924	genome.wustl.edu	37	chr17	80273253	80273253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggctgtgcgacatgtcctCgtacaccacacatgccgccg	7	7	11	16	5	0	0	0	0	0	0	2	1	1	0	4	1	3	2	4	1	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:80273253C>T	ENST00000312648.3	-	4	773	c.667G>A	c.(667-669)Gag>Aag	p.E223K	CD7_ENST00000583376.1_Missense_Mutation_p.E123K|CD7_ENST00000584284.1_3'UTR	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	223					homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GACATGTCCTCGTACACCACA	0.617																																					Pancreas(45;804 1068 19702 28207 28798)												0													101	78	86					17																	80273253		2203	4300	6503	SO:0001583	missense	0			X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1695	protein-coding gene	gene with protein product	"p41 protein", "T-cell antigen CD7", "T-cell leukemia antigen"	186820	"CD7 antigen (p41)"			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.667G>A	17.37:g.80273253C>T	ENSP00000312027:p.Glu223Lys			Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E223K	ENST00000312648.3	37	c.667	CCDS11807.1	17	.	.	.	.	.	.	.	.	.	.	C	7.002	0.555099	0.13436	.	.	ENSG00000173762	ENST00000312648	T	0.55052	0.54	2.2	2.2	0.27929	.	0.000000	0.41097	U	0.000942	T	0.56731	0.2005	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.55535	-0.8126	10	0.48119	T	0.1	-28.0661	7.9558	0.30042	0.0:1.0:0.0:0.0	.	223	P09564	CD7_HUMAN	K	223	ENSP00000312027:E223K	ENSP00000312027:E223K	E	-	1	0	CD7	77866542	0.008000	0.16893	0.845000	0.33349	0.075000	0.17131	1.935000	0.40173	1.548000	0.49413	0.313000	0.20887	GAG	CD7	-	NULL	ENSG00000173762		0.617	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD7	HGNC	protein_coding	OTTHUMT00000442826.1	-	0	126	0	C	NM_006137		80273253	-1	tier1	-	no_errors	ENST00000312648	ensembl	human	known	74_37	missense	15.97	100	19	SNP	0.862	T	T	80273253	C	T	80273253	3	4	182	1	0	0	0	0	1	0	0	0	3039	893	31	1	59	1	CD7	17	80273253	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	1047204	80273253	921957	239	45415											
ZNF750	79755	genome.wustl.edu	37	chr17	80790258	80790258	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggacattggaaacatttatActtgaagggctttcctggag	11	12	12	6	0	0	1	0	1	0	0	1	4	1	4	1	4	2	1	1	4	4	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr17:80790258A>C	ENST00000269394.3	-	2	906	c.73T>G	c.(73-75)Tat>Gat	p.Y25D	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	25					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAACATTTATACTTGAAGGGC	0.408																																																	0													93	102	99					17																	80790258		2203	4300	6503	SO:0001583	missense	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.73T>G	17.37:g.80790258A>C	ENSP00000269394:p.Tyr25Asp		Q9H899	Missense_Mutation	SNP	NULL	p.Y25D	ENST00000269394.3	37	c.73	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614778	0.87359	.	.	ENSG00000141579	ENST00000269394	T	0.58358	0.34	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000011	T	0.72203	0.3431	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73363	-0.4006	9	.	.	.	-29.1617	15.3545	0.74418	1.0:0.0:0.0:0.0	.	25	Q32MQ0	ZN750_HUMAN	D	25	ENSP00000269394:Y25D	.	Y	-	1	0	ZNF750	78383547	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.160000	0.94734	2.214000	0.71695	0.533000	0.62120	TAT	ZNF750	-	NULL	ENSG00000141579		0.408	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	0	59	0	A	NM_024702		80790258	-1	tier1	-	no_errors	ENST00000269394	ensembl	human	known	74_37	missense	73.68	25	70	SNP	1.000	C	C	80790258	A	C	80790258	3	2	182	1	0	0	0	0	1	0	0	0	18180	391	14	4	2106	4	ZNF750	17	80790258	Missense_Mutation	SNP	A	TCGA-Z6-A8JE-01A-11D-A37C-09	517005	80790258	404952	240	45416											
COLEC12	81035	genome.wustl.edu	37	chr18	333120	333120	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagtagcatttgtctgtgaAgttcttccagtgaggcgggc	8	13	13	7	1	2	2	0	2	2	0	3	2	3	2	1	2	1	3	1	2	3	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr18:333120A>T	ENST00000400256.3	-	7	2047	c.1840T>A	c.(1840-1842)Ttc>Atc	p.F614I		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	614	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)			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)				TTGTCTGTGAAGTTCTTCCAG	0.388																																																	0													65	70	68					18																	333120		2203	4300	6503	SO:0001583	missense	0			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.1840T>A	18.37:g.333120A>T	ENSP00000383115:p.Phe614Ile		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.F614I	ENST00000400256.3	37	c.1840	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	A	25.0	4.597363	0.87055	.	.	ENSG00000158270	ENST00000400256	T	0.19394	2.15	5.91	5.91	0.95273	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.172694	0.53938	D	0.000057	T	0.33323	0.0859	M	0.92604	3.325	0.48395	D	0.999649	B	0.31931	0.347	B	0.20184	0.028	T	0.31943	-0.9925	10	0.23302	T	0.38	-16.2224	16.3512	0.83208	1.0:0.0:0.0:0.0	.	614	Q5KU26	COL12_HUMAN	I	614	ENSP00000383115:F614I	ENSP00000383115:F614I	F	-	1	0	COLEC12	323120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.806000	0.69150	2.266000	0.75297	0.533000	0.62120	TTC	COLEC12	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	ENSG00000158270		0.388	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	-	0	41	0	A			333120	-1	tier1	-	no_errors	ENST00000400256	ensembl	human	known	74_37	missense	22.81	44	13	SNP	1.000	T	T	333120	A	T	333120	3	4	182	1	0	0	0	0	1	0	0	0	3719	72	3	5	404	5	COLEC12	18	333120	Missense_Mutation	SNP	A	TCGA-Z6-A8JE-01A-11D-A37C-09		333120	77744128	241	45417											
TMEM200C	645369	genome.wustl.edu	37	chr18	5890406	5890406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgtttgaccagctactgCgtccaagaccgactcggtgg	7	9	12	13	5	0	2	0	1	0	1	3	3	1	2	3	2	3	2	3	2	2	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr18:5890406C>A	ENST00000581347.2	-	3	2302	c.1657G>T	c.(1657-1659)Gca>Tca	p.A553S	TMEM200C_ENST00000383490.2_Missense_Mutation_p.A553S|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	553						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CCAGCTACTGCGTCCAAGACC	0.687																																																	0													24	28	26					18																	5890406		1937	4110	6047	SO:0001583	missense	0				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1657G>T	18.37:g.5890406C>A	ENSP00000463375:p.Ala553Ser			Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.A553S	ENST00000581347.2	37	c.1657	CCDS45825.1	18	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264926	0.40095	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.62	-0.986	0.10252	.	.	.	.	.	T	0.14700	0.0355	N	0.08118	0	0.21933	N	0.99947	B	0.15141	0.012	B	0.16722	0.016	T	0.22836	-1.0205	8	0.49607	T	0.09	.	0.0364	0.00007	0.3271:0.1916:0.1852:0.2962	.	553	A6NKL6	T200C_HUMAN	S	553	.	ENSP00000372982:A553S	A	-	1	0	TMEM200C	5880406	0.114000	0.22134	0.000000	0.03702	0.182000	0.23217	0.310000	0.19356	-0.087000	0.12528	-0.258000	0.10820	GCA	TMEM200C	-	NULL	ENSG00000206432		0.687	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200C	HGNC	protein_coding	OTTHUMT00000441917.4	-	0	41	0	C	NM_001080209		5890406	-1	tier1	-	no_errors	ENST00000383490	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.718	A	A	5890406	C	A	5890406	3	1	182	1	0	0	0	0	1	0	0	0	16172	768	27	2	212	2	TMEM200C	18	5890406	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	5557286	5890406	72186842	242	45418											
FAM59A	64762	genome.wustl.edu	37	chr18	29868054	29868054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgagtcgtgacttttccTtgaatgtctttgcataaagg	8	17	10	6	1	1	3	0	3	1	0	3	3	2	3	1	1	1	2	1	1	3	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr18:29868054T>C	ENST00000269209.6	-	4	509	c.506A>G	c.(505-507)aAg>aGg	p.K169R	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Missense_Mutation_p.K169R			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	169	CABIT.				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)										TGACTTTTCCTTGAATGTCTT	0.423																																																	0													104	86	92					18																	29868054		2203	4300	6503	SO:0001583	missense	0			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.506A>G	18.37:g.29868054T>C	ENSP00000269209:p.Lys169Arg		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	superfamily_SAM/pointed	p.K169R	ENST00000269209.6	37	c.506	CCDS56057.1	18	.	.	.	.	.	.	.	.	.	.	T	14.32	2.498934	0.44455	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15952	2.38;2.38	5.34	5.34	0.76211	.	0.092744	0.64402	D	0.000001	T	0.14657	0.0354	L	0.28192	0.835	0.50313	D	0.999868	B;B	0.29301	0.241;0.108	B;B	0.30105	0.111;0.099	T	0.05632	-1.0873	10	0.42905	T	0.14	-23.7767	15.4543	0.75299	0.0:0.0:0.0:1.0	.	169;169	Q9H706;Q9H706-3	FA59A_HUMAN;.	R	169	ENSP00000382165:K169R;ENSP00000269209:K169R	ENSP00000269209:K169R	K	-	2	0	FAM59A	28122052	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.346000	0.59367	2.237000	0.73441	0.533000	0.62120	AAG	GAREM	-	NULL	ENSG00000141441		0.423	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GAREM	HGNC	protein_coding	OTTHUMT00000255365.1	-	0	57	0	T	NM_022751		29868054	-1	tier1	-	no_errors	ENST00000269209	ensembl	human	known	74_37	missense	21.05	60	16	SNP	1.000	C	C	29868054	T	C	29868054	3	2	182	1	0	0	0	0	1	0	0	0	5614	1609	56	4	2133	4	FAM59A	18	29868054	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	23977648	29868054	48209194	243	45419											
C18orf21	83608	genome.wustl.edu	37	chr18	33552863	33552863	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagctgggcctacacttcGtcgcacggtaagaagaacgc	11	7	11	12	4	0	2	0	0	0	2	2	2	0	2	1	2	4	3	1	2	5	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr18:33552863G>T	ENST00000592875.1	+	2	739	c.93G>T	c.(91-93)tcG>tcT	p.S31S	C18orf21_ENST00000593210.1_Intron|C18orf21_ENST00000333234.5_5'UTR	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	31										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						CCTACACTTCGTCGCACGGTA	0.557																																																	0													176	148	157					18																	33552863		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.93G>T	18.37:g.33552863G>T			Q6GW03|Q9BXV6|Q9BXW2	Silent	SNP	NULL	p.S31	ENST00000592875.1	37	c.93	CCDS11916.2	18																																																																																			C18orf21	-	NULL	ENSG00000141428		0.557	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf21	HGNC	protein_coding	OTTHUMT00000250364.1		0	43	0	G	NM_031446		33552863	1			no_errors	ENST00000592875	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.045	T	T	33552863	G	T	33552863	2	4	182	1	0	0	0	0	0	0	0	1	1904	1132	40	2		2	C18orf21	18	33552863	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	3684809	33552863	44524385	244	45420											
FHOD3	80206	genome.wustl.edu	37	chr18	34298670	34298670	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctaaatccaaggaactgtctGtctcaaaggtactgctagtc	12	11	8	10	0	2	0	1	0	2	0	5	1	3	1	1	2	3	2	1	2	7	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr18:34298670G>T	ENST00000359247.4	+	15	2833	c.2833G>T	c.(2833-2835)Gtc>Ttc	p.V945F	FHOD3_ENST00000591635.1_Missense_Mutation_p.V158F|FHOD3_ENST00000257209.4_Missense_Mutation_p.V962F|FHOD3_ENST00000590592.1_Missense_Mutation_p.V1137F|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000445677.1_Missense_Mutation_p.V924F	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	945	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGAACTGTCTGTCTCAAAGGT	0.443																																																	0													122	126	125					18																	34298670		2202	4300	6502	SO:0001583	missense	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2833G>T	18.37:g.34298670G>T	ENSP00000352186:p.Val945Phe		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.V962F	ENST00000359247.4	37	c.2884		18	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867226	0.72065	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.24723	1.84;1.84;1.84	4.46	4.46	0.54185	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	M	0.67953	2.075	0.80722	D	1	D;D;B	0.76494	0.999;0.999;0.251	D;D;B	0.87578	0.997;0.998;0.176	T	0.48875	-0.8996	10	0.45353	T	0.12	.	15.6858	0.77409	0.0:0.0:1.0:0.0	.	924;945;962	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	F	962;945;924	ENSP00000257209:V962F;ENSP00000352186:V945F;ENSP00000411430:V924F	ENSP00000257209:V962F	V	+	1	0	FHOD3	32552668	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.823000	0.99369	2.034000	0.60081	0.555000	0.69702	GTC	FHOD3	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000134775		0.443	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1		0	27	0	G	XM_371114		34298670	1			no_errors	ENST00000257209	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	34298670	G	T	34298670	3	4	182	1	0	0	0	0	1	0	0	0	5905	1377	48	3	2946	3	FHOD3	18	34298670	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	745807	34298670	43778578	245	45421											
KIAA1328	57536	genome.wustl.edu	37	chr18	34740346	34740346	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgtagaccccaaagaggTaagtttaacaactgtagtgg	15	9	10	7	0	0	2	0	0	0	2	0	2	0	2	2	2	2	4	2	2	6	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr18:34740346T>A	ENST00000280020.5	+	8	1436		c.e8+2		KIAA1328_ENST00000586135.1_Splice_Site|KIAA1328_ENST00000435985.2_Splice_Site|KIAA1328_ENST00000591619.1_Splice_Site|KIAA1328_ENST00000543923.1_Splice_Site	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328											central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CCCAAAGAGGTAAGTTTAACA	0.403																																																	0													53	50	51					18																	34740346		1889	4113	6002	SO:0001630	splice_region_variant	0			AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1414+2T>A	18.37:g.34740346T>A			Q05DL0|Q49AG6|Q9P2L8	Splice_Site	SNP	-	e8+2	ENST00000280020.5	37	c.1414+2	CCDS45855.1	18	.	.	.	.	.	.	.	.	.	.	T	14.06	2.421681	0.43020	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055;ENST00000435985	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5161	0.61541	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1328	32994344	1.000000	0.71417	0.999000	0.59377	0.240000	0.25518	4.360000	0.59455	2.182000	0.69389	0.482000	0.46254	.	KIAA1328	-	-	ENSG00000150477		0.403	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1328	HGNC	protein_coding	OTTHUMT00000440455.1	-	0	54	0	T	NM_020776	Intron	34740346	1	tier1	-	no_errors	ENST00000280020	ensembl	human	known	74_37	splice_site	32.73	37	18	SNP	1.000	A	A	34740346	T	A	34740346	5	1	182	1	0	0	0	0	0	0	1	0	8252	1652	57	5	1446	5	KIAA1328	18	34740346	Splice_Site	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	441676	34740346	43336902	246	45422											
SAFB	6294	genome.wustl.edu	37	chr19	5664432	5664432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggttcaaggtcaatgatGggagaacgagaaggacaggt	15	6	16	4	1	2	3	2	1	0	2	2	7	2	4	0	5	1	1	0	5	5	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:5664432G>T	ENST00000292123.5	+	17	2423	c.2316G>T	c.(2314-2316)atG>atT	p.M772I	SAFB_ENST00000538656.1_Missense_Mutation_p.M614I|SAFB_ENST00000454510.1_Missense_Mutation_p.M703I|SAFB_ENST00000433404.1_Missense_Mutation_p.M602I|SAFB_ENST00000592224.1_Missense_Mutation_p.M771I|SAFB_ENST00000588852.1_Missense_Mutation_p.M772I	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	772	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)		GGTCAATGATGGGAGAACGAG	0.478																																					Colon(88;338 1345 6184 8214 20897)												0													96	93	94					19																	5664432		2203	4300	6503	SO:0001583	missense	0			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.2316G>T	19.37:g.5664432G>T	ENSP00000292123:p.Met772Ile		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.M772I	ENST00000292123.5	37	c.2316	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038637	0.55003	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.10382	2.9;3.06;2.9;2.88	5.04	5.04	0.67666	.	0.233245	0.30510	N	0.009467	T	0.32010	0.0815	M	0.70275	2.135	0.41978	D	0.990785	P;P;P;P;P;P;P	0.52577	0.915;0.924;0.954;0.924;0.924;0.924;0.924	P;P;D;P;P;P;P	0.66351	0.608;0.878;0.943;0.878;0.878;0.878;0.878	T	0.01874	-1.1256	10	0.56958	D	0.05	-22.8134	16.5634	0.84572	0.0:0.0:1.0:0.0	.	571;614;703;771;772;772;771	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	I	703;667;602;772;614	ENSP00000415895:M703I;ENSP00000404545:M602I;ENSP00000292123:M772I;ENSP00000438880:M614I	ENSP00000292123:M772I	M	+	3	0	SAFB	5615432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.867000	0.63013	2.492000	0.84095	0.655000	0.94253	ATG	SAFB	-	NULL	ENSG00000160633		0.478	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	-	0	83	0	G			5664432	1	tier1	-	no_errors	ENST00000588852	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	T	T	5664432	G	T	5664432	3	4	182	1	0	0	0	0	1	0	0	0	13851	1348	47	3	2382	3	SAFB	19	5664432	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		5664432	53464551	247	45423											
GTF2F1	2962	genome.wustl.edu	37	chr19	6381858	6381858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttggccttggggactctgCcccctgggaagggaggaaag	7	8	16	10	0	2	0	0	0	2	0	2	4	2	4	3	6	1	0	3	6	2	2	rs140441631		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:6381858C>T	ENST00000394456.5	-	7	1150	c.686G>A	c.(685-687)gGc>gAc	p.G229D	GTF2F1_ENST00000429701.2_Missense_Mutation_p.G144D|PSPN_ENST00000597721.1_5'Flank	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	229					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						GGGGACTCTGCCCCCTGGGAA	0.532																																																	0								C	ASP/GLY	0,4406		0,0,2203	32	26	28		686	2.7	0.3	19	dbSNP_134	28	1,8599		0,1,4299	no	missense	GTF2F1	NM_002096.2	94	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	229/518	6381858	1,13005	2203	4300	6503	SO:0001583	missense	0				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.686G>A	19.37:g.6381858C>T	ENSP00000377969:p.Gly229Asp		B2RCS0|Q9BWN0	Missense_Mutation	SNP	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	p.G229D	ENST00000394456.5	37	c.686	CCDS12165.1	19	.	.	.	.	.	.	.	.	.	.	C	5.868	0.344258	0.11126	0.0	1.16E-4	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045;ENST00000543921	T;T	0.38560	1.13;1.13	4.9	2.69	0.31865	.	0.521273	0.19915	N	0.103208	T	0.28433	0.0703	L	0.38175	1.15	0.32523	N	0.535998	B;B;B	0.23442	0.025;0.085;0.027	B;B;B	0.27887	0.057;0.084;0.055	T	0.27872	-1.0061	10	0.11485	T	0.65	-18.2133	8.0582	0.30617	0.1606:0.7509:0.0:0.0885	.	144;127;229	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	D	229;144;289;145	ENSP00000377969:G229D;ENSP00000392107:G144D	ENSP00000377969:G229D	G	-	2	0	GTF2F1	6332858	0.858000	0.29795	0.277000	0.24703	0.279000	0.26890	1.202000	0.32271	1.169000	0.42739	0.655000	0.94253	GGC	GTF2F1	-	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	ENSG00000125651		0.532	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F1	HGNC	protein_coding	OTTHUMT00000398033.1		0	59	0	C	NM_002096		6381858	-1			no_errors	ENST00000394456	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.892	T	T	6381858	C	T	6381858	3	4	182	1	0	0	0	0	1	0	0	0	6885	739	26	3	895	3	GTF2F1	19	6381858	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	717426	6381858	52747125	248	45424											
RAB3D	9545	genome.wustl.edu	37	chr19	11446226	11446226	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgggcgttgtcccaggaGtaggtcttgatttgcgtggc	5	12	15	9	2	1	1	0	1	1	0	2	2	2	2	2	4	1	2	2	4	1	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:11446226G>T	ENST00000222120.3	-	4	629	c.369C>A	c.(367-369)taC>taA	p.Y123*	RAB3D_ENST00000589655.1_Nonsense_Mutation_p.Y123*	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	123					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						TGTCCCAGGAGTAGGTCTTGA	0.612																																																	0													92	80	84					19																	11446226		2203	4300	6503	SO:0001587	stop_gained	0			AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"RAB, member RAS oncogene"	9779	protein-coding gene	gene with protein product	"Rab3D upregulated with myeloid differentiation", "glioblastoma overexpressed"	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.369C>A	19.37:g.11446226G>T	ENSP00000222120:p.Tyr123*			Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Y123*	ENST00000222120.3	37	c.369	CCDS12257.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.732850	0.97796	.	.	ENSG00000105514	ENST00000222120	.	.	.	4.64	1.3	0.21679	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4204	0.27069	0.3683:0.0:0.6317:0.0	.	.	.	.	X	123	.	ENSP00000222120:Y123X	Y	-	3	2	RAB3D	11307226	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.288000	0.43514	0.272000	0.22027	0.462000	0.41574	TAC	RAB3D	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000105514		0.612	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3D	HGNC	protein_coding	OTTHUMT00000453211.1	-	0	77	0	G	NM_004283		11446226	-1	tier1	-	no_errors	ENST00000222120	ensembl	human	known	74_37	nonsense	5.19	73	4	SNP	1.000	T	T	11446226	G	T	11446226	4	4	182	1	0	0	0	0	0	1	0	0	12979	1024	36	3	298	3	RAB3D	19	11446226	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	5064368	11446226	47682757	249	45425											
ACP5	54	genome.wustl.edu	37	chr19	11687567	11687567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagtatgcaatctgggcaGagacattgccaaggtggtca	12	9	13	7	0	2	2	1	0	1	2	2	3	2	2	1	3	2	3	1	3	4	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:11687567G>T	ENST00000592828.1	-	5	755	c.353C>A	c.(352-354)tCt>tAt	p.S118Y	ACP5_ENST00000412435.2_Missense_Mutation_p.S118Y|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.S118Y|ACP5_ENST00000218758.5_Missense_Mutation_p.S118Y	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|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 nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)	p.S118I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AATCTGGGCAGAGACATTGCC	0.572																																																	1	Substitution - Missense(1)	lung(1)											177	168	171					19																	11687567		2203	4300	6503	SO:0001583	missense	0			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"tartrate-resistant acid phosphatase"	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.353C>A	19.37:g.11687567G>T	ENSP00000468767:p.Ser118Tyr		A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	pfam_PEstase_dom	p.S118Y	ENST00000592828.1	37	c.353	CCDS12265.1	19	.	.	.	.	.	.	.	.	.	.	g	13.26	2.185253	0.38609	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.71698	-0.59;-0.59;-0.59	5.04	4.0	0.46444	Metallophosphoesterase domain (1);	0.190687	0.45606	D	0.000345	T	0.80660	0.4665	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.81754	-0.0788	10	0.66056	D	0.02	-7.6342	12.3404	0.55091	0.0846:0.0:0.9154:0.0	.	118	P13686	PPA5_HUMAN	Y	118	ENSP00000218758:S118Y;ENSP00000392374:S118Y;ENSP00000413456:S118Y	ENSP00000218758:S118Y	S	-	2	0	ACP5	11548567	0.983000	0.35010	0.624000	0.29186	0.002000	0.02628	2.262000	0.43285	1.116000	0.41820	-0.136000	0.14681	TCT	ACP5	-	pfam_PEstase_dom	ENSG00000102575		0.572	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACP5	HGNC	protein_coding	OTTHUMT00000458881.1		0	36	0	G			11687567	-1			no_errors	ENST00000218758	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.834	T	T	11687567	G	T	11687567	3	4	182	1	0	0	0	0	1	0	0	0	164	942	33	3	636	3	ACP5	19	11687567	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	241341	11687567	47441416	250	45426											
C19orf57	79173	genome.wustl.edu	37	chr19	14001054	14001054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtggtcttggctggccctCtgtgaggcggacaaccccgt	5	9	15	12	2	2	1	0	1	2	0	2	2	2	2	3	6	1	1	3	6	1	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:14001054C>G	ENST00000586783.1	-	5	614	c.615G>C	c.(613-615)caG>caC	p.Q205H	C19orf57_ENST00000346736.2_Missense_Mutation_p.Q205H|C19orf57_ENST00000454313.1_Missense_Mutation_p.Q205H|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	205					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCTGGCCCTCTGTGAGGCGG	0.627																																																	0													107	93	98					19																	14001054		2203	4300	6503	SO:0001583	missense	0			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.615G>C	19.37:g.14001054C>G	ENSP00000465822:p.Gln205His		Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	NULL	p.Q205H	ENST00000586783.1	37	c.615		19	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463542	0.43736	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.32272	1.46;1.46	3.34	2.29	0.28610	.	0.564043	0.13296	N	0.398637	T	0.28001	0.0690	N	0.19112	0.55	0.09310	N	1	D;D	0.59767	0.986;0.986	P;P	0.53861	0.736;0.534	T	0.06534	-1.0821	10	0.62326	D	0.03	1.2243	6.7465	0.23464	0.0:0.8666:0.0:0.1334	.	205;205	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	H	205	ENSP00000404382:Q205H;ENSP00000254336:Q205H	ENSP00000254336:Q205H	Q	-	3	2	C19orf57	13862054	0.001000	0.12720	0.003000	0.11579	0.204000	0.24138	1.048000	0.30379	0.963000	0.38082	0.491000	0.48974	CAG	C19orf57	-	NULL	ENSG00000132016		0.627	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	-	0	63	0	C	NM_024323		14001054	-1	tier1	-	no_errors	ENST00000454313	ensembl	human	known	74_37	missense	18.56	79	18	SNP	0.003	G	G	14001054	C	G	14001054	3	3	182	1	0	0	0	0	1	0	0	0	1946	912	32	5	1310	5	C19orf57	19	14001054	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	2313487	14001054	45127929	251	45427											
NDUFA13	51079	genome.wustl.edu	37	chr19	19627082	19627082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagcaggacatgcctcCgccggggggctatgggccca	7	5	17	12	2	0	1	0	1	0	0	1	2	1	2	4	6	2	2	4	6	2	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:19627082C>T	ENST00000507754.4	+	1	519	c.35C>T	c.(34-36)cCg>cTg	p.P12L	NDUFA13_ENST00000503283.1_Missense_Mutation_p.P12L|YJEFN3_ENST00000608404.1_Missense_Mutation_p.P12L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.P95L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000428459.2_Missense_Mutation_p.P12L|TSSK6_ENST00000360913.3_5'Flank|TSSK6_ENST00000585580.3_5'Flank|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.P12L|NDUFA13_ENST00000512771.3_Missense_Mutation_p.P12L			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	12					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						GACATGCCTCCGCCGGGGGGC	0.617																																																	0													39	44	43					19																	19627082		2203	4300	6503	SO:0001583	missense	0			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.35C>T	19.37:g.19627082C>T	ENSP00000423673:p.Pro12Leu		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom	p.P12L	ENST00000507754.4	37	c.35	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	C	35	5.558020	0.96514	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	D;D;D	0.89810	-2.57;-2.57;-2.57	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.96225	0.8769	H	0.95043	3.615	0.47441	D	0.999429	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97349	0.9962	10	0.87932	D	0	.	16.5154	0.84299	0.0:1.0:0.0:0.0	.	12;12;12	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	L	12;95;12;12	ENSP00000423673:P12L;ENSP00000252576:P95L;ENSP00000452549:P12L	ENSP00000252576:P95L	P	+	2	0	YJEFN3;NDUFA13;CTC-260F20.3	19488082	1.000000	0.71417	0.985000	0.45067	0.952000	0.60782	6.163000	0.71880	2.504000	0.84457	0.650000	0.86243	CCG	YJEFN3	-	pfam_GRIM-19	ENSG00000250067		0.617	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	YJEFN3	HGNC	protein_coding	OTTHUMT00000367916.6	-	0	66	0	C	NM_015965		19627082	1	tier1	-	no_errors	ENST00000608404	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	T	T	19627082	C	T	19627082	3	4	182	1	0	0	0	0	1	0	0	0	10302	652	23	1	37	1	NDUFA13	19	19627082	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	5626028	19627082	39501901	252	45428											
LSR	51599	genome.wustl.edu	37	chr19	35758275	35758275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcccacgagtaatggtGggagaagccgggcctacatg	9	7	15	10	2	1	1	0	0	1	1	2	3	1	1	3	4	2	1	3	4	3	2	rs397751431|rs79703261|rs142507475		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:35758275G>A	ENST00000361790.3	+	9	1711	c.1552G>A	c.(1552-1554)Ggg>Agg	p.G518R	USF2_ENST00000594064.1_5'Flank|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000602122.1_Missense_Mutation_p.G498R|USF2_ENST00000595068.1_5'Flank|LSR_ENST00000427250.1_Missense_Mutation_p.G362R|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000360798.3_Missense_Mutation_p.G450R|LSR_ENST00000347609.4_Missense_Mutation_p.G460R|LSR_ENST00000354900.3_Missense_Mutation_p.G499R|USF2_ENST00000222305.3_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	518				G -> GR (in Ref. 2; BAC86714, 3; BAC11614 and 5; AAH04381). {ECO:0000305}.	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)			GAGTAATGGTGGGAGAAGCCG	0.721																																																	0													10	15	14					19																	35758275		2108	4146	6254	SO:0001583	missense	0			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.1552G>A	19.37:g.35758275G>A	ENSP00000354575:p.Gly518Arg		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom	p.G518R	ENST00000361790.3	37	c.1552	CCDS12450.1	19	.	.	.	.	.	.	.	.	.	.	G	0.212	-1.035894	0.02029	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.64438	0.56;0.69;0.33;0.4;-0.1	0.199	0.199	0.15175	.	0.251577	0.39210	N	0.001427	T	0.26557	0.0649	N	0.02539	-0.55	0.26982	N	0.965347	P;B;B;B;B;B	0.43094	0.799;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.39258	0.295;0.0;0.004;0.001;0.0;0.0	T	0.42666	-0.9438	9	0.10111	T	0.7	-5.1652	.	.	.	.	456;460;498;450;499;518	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	R	518;499;450;460;362	ENSP00000354575:G518R;ENSP00000346976:G499R;ENSP00000354034:G450R;ENSP00000262627:G460R;ENSP00000394479:G362R	ENSP00000262627:G460R	G	+	1	0	LSR	40450115	0.999000	0.42202	0.742000	0.31022	0.527000	0.34593	0.345000	0.19979	0.300000	0.22699	0.306000	0.20318	GGG	LSR	-	NULL	ENSG00000105699		0.721	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LSR	HGNC	protein_coding	OTTHUMT00000465513.2		0	11	0	G	NM_015925		35758275	1			no_errors	ENST00000361790	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.950	A	A	35758275	G	A	35758275	3	1	182	1	0	0	0	0	1	0	0	0	9099	1348	47	3	1586	3	LSR	19	35758275	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	16131193	35758275	23370708	253	45429											
LTBP4	8425	genome.wustl.edu	37	chr19	41111456	41111456	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcgcgggcggaggcGgcagcgccctacacggtgtt	4	4	20	13	8	0	0	0	0	0	0	0	1	0	1	1	7	2	2	1	7	1	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:41111456G>T	ENST00000308370.7	+	6	789	c.789G>T	c.(787-789)gcG>gcT	p.A263A	RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000396819.3_Silent_p.A196A|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.A226A	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	263					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)			gggcggaggcggcagcgCCCT	0.731																																																	0													8	11	10					19																	41111456		1840	3865	5705	SO:0001819	synonymous_variant	0			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.789G>T	19.37:g.41111456G>T			O00508|O75412|O75413	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A263	ENST00000308370.7	37	c.789		19																																																																																			LTBP4	-	NULL	ENSG00000090006		0.731	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		-	0	40	0	G	NM_003573		41111456	1	tier1	-	no_errors	ENST00000308370	ensembl	human	known	74_37	silent	39.34	37	24	SNP	0.986	T	T	41111456	G	T	41111456	2	4	182	1	0	0	0	0	0	0	0	1	9111	1103	39	2		2	LTBP4	19	41111456	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	5353181	41111456	18017527	254	45430											
PRR19	284338	genome.wustl.edu	37	chr19	42814490	42814490	+	Silent	SNP	A	A	T	1	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	aatagccctgatcaagtcccAgagcaggagaggcaaaggaa	16	4	12	9	0	1	3	1	1	0	2	2	5	2	4	2	3	2	2	2	3	5	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:42814490A>T	ENST00000499536.2	+	2	1480	c.669A>T	c.(667-669)ccA>ccT	p.P223P	PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Silent_p.P223P|TMEM145_ENST00000301204.3_5'Flank			A6NJB7	PRR19_HUMAN	proline rich 19	223										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				ATCAAGTCCCAGAGCAGGAGA	0.562																																																	0													94	89	91					19																	42814490		2203	4300	6503	SO:0001819	synonymous_variant	0			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.669A>T	19.37:g.42814490A>T			A8K663|B3KW48|Q6P584	Silent	SNP	NULL	p.P223	ENST00000499536.2	37	c.669	CCDS33036.1	19																																																																																			PRR19	-	NULL	ENSG00000188368		0.562	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR19	HGNC	protein_coding	OTTHUMT00000463735.1	-	0	36	0	A	NM_199285		42814490	1	tier1	-	no_errors	ENST00000341747	ensembl	human	known	74_37	silent	31.58	26	12	SNP	0.002	T	T	42814490	A	T	42814490	2	4	182	1	0	0	0	0	0	0	0	1	12633	175	7	5		5	PRR19	19	42814490	Silent	SNP	A	TCGA-Z6-A8JE-01A-11D-A37C-09	1703034	42814490	16314493	255	45431											
PSG4	5672	genome.wustl.edu	37	chr19	43699413	43699413	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgattgtgatgtagggcTtggacagctttgctgtgtgg	5	16	16	4	0	0	2	0	2	0	0	0	3	0	3	0	3	2	5	0	3	1	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:43699413T>A	ENST00000405312.3	-	4	959	c.722A>T	c.(721-723)aAg>aTg	p.K241M	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.K148M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	241	Ig-like C2-type 2.				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)				GATGTAGGGCTTGGACAGCTT	0.453																																																	0													239	259	252					19																	43699413		2202	4295	6497	SO:0001583	missense	0				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.722A>T	19.37:g.43699413T>A	ENSP00000384770:p.Lys241Met		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K241M	ENST00000405312.3	37	c.722	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	t	2.315	-0.356953	0.05138	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.57752	0.38;1.46	1.79	-3.57	0.04612	Immunoglobulin-like (1);	.	.	.	.	T	0.62368	0.2422	M	0.91196	3.185	0.09310	N	1	B;B	0.32573	0.376;0.023	P;B	0.44732	0.459;0.133	T	0.60910	-0.7169	9	0.45353	T	0.12	.	4.1595	0.10277	0.0:0.3329:0.2806:0.3865	.	148;241	E7EX79;Q00888	.;PSG4_HUMAN	M	241;148	ENSP00000384770:K241M;ENSP00000387864:K148M	ENSP00000384770:K241M	K	-	2	0	PSG4	48391253	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.418000	0.02462	-1.691000	0.01430	-0.441000	0.05720	AAG	PSG4	-	pfscan_Ig-like_dom	ENSG00000243137		0.453	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1	-	0	126	0	T	NM_213633		43699413	-1	tier1	-	no_errors	ENST00000405312	ensembl	human	known	74_37	missense	21.33	166	45	SNP	0.002	A	A	43699413	T	A	43699413	3	1	182	1	0	0	0	0	1	0	0	0	12699	1609	56	5	549	5	PSG4	19	43699413	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	884923	43699413	15429570	256	45432											
ZFP112	7771	genome.wustl.edu	37	chr19	44833162	44833162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacattctcattttcctcaTattcatggggttcatcccta	9	16	5	11	0	4	1	4	0	1	1	7	1	6	1	2	2	0	1	2	2	2	7	rs76661956	byFrequency	TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:44833162T>C	ENST00000337401.4	-	5	1254	c.1166A>G	c.(1165-1167)tAt>tGt	p.Y389C	ZNF112_ENST00000536500.1_Missense_Mutation_p.Y406C|ZNF112_ENST00000354340.4_Missense_Mutation_p.Y383C	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ATTTTCCTCATATTCATGGGG	0.363																																																	0													84	78	80					19																	44833162		2203	4300	6503	SO:0001583	missense	0			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1166A>G	19.37:g.44833162T>C	ENSP00000337081:p.Tyr389Cys		A4FU53|Q9HCA7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y406C	ENST00000337401.4	37	c.1217	CCDS54276.1	19	.	.	.	.	.	.	.	.	.	.	T	0.141	-1.102077	0.01828	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.06371	3.31;3.32;3.33	4.65	-2.63	0.06133	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31188	N	0.008099	T	0.00524	0.0017	N	0.00006	-3.21	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.45041	-0.9288	10	0.02654	T	1	-5.1538	1.1294	0.01742	0.2868:0.3492:0.1463:0.2177	.	388;406;389	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	C	389;389;383;406;388	ENSP00000337081:Y389C;ENSP00000346305:Y383C;ENSP00000441990:Y406C	ENSP00000253426:Y388C	Y	-	2	0	ZNF285	49525002	0.000000	0.05858	0.001000	0.08648	0.796000	0.44982	0.085000	0.14912	-0.503000	0.06586	-0.378000	0.06908	TAT	ZNF112	-	NULL	ENSG00000062370		0.363	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF112	HGNC	protein_coding	OTTHUMT00000460744.1	-	0	18	0	T	NM_013380		44833162	-1	tier1	-	no_errors	ENST00000536500	ensembl	human	known	74_37	missense	44.19	24	19	SNP	0.000	C	C	44833162	T	C	44833162	3	2	182	1	0	0	0	0	1	0	0	0	17686	1406	49	4	1579	4	ZFP112	19	44833162	Missense_Mutation	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	1133749	44833162	14295821	257	45433											
ERCC1	2067	genome.wustl.edu	37	chr19	45922395	45922395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacccgcaaggcgaagttCttccccaggctctgcagccg	8	6	12	15	3	2	0	0	0	2	0	3	2	3	1	4	3	2	4	4	3	2	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:45922395C>A	ENST00000300853.3	-	5	1077	c.486G>T	c.(484-486)aaG>aaT	p.K162N	ERCC1_ENST00000340192.7_Missense_Mutation_p.K162N|ERCC1_ENST00000013807.5_Missense_Mutation_p.K162N|ERCC1_ENST00000589165.1_Missense_Mutation_p.K162N|ERCC1_ENST00000423698.2_Missense_Mutation_p.K90N|ERCC1_ENST00000591636.1_Missense_Mutation_p.K162N	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	162					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AGGCGAAGTTCTTCCCCAGGC	0.627								Nucleotide excision repair (NER)																																									0													69	56	60					19																	45922395		2202	4299	6501	SO:0001583	missense	0				CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.486G>T	19.37:g.45922395C>A	ENSP00000300853:p.Lys162Asn		B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	pfam_DNA_repair_Rad10,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,tigrfam_DNA_repair_Rad10	p.K162N	ENST00000300853.3	37	c.486	CCDS12662.1	19	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317851	0.81469	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698;ENST00000013807	T;T;T;T	0.52295	0.71;0.67;0.75;0.68	4.71	4.71	0.59529	Restriction endonuclease, type II-like (1);	0.191250	0.46442	D	0.000290	T	0.55940	0.1952	L	0.42632	1.34	0.43819	D	0.996382	D;P;D;D	0.67145	0.996;0.723;0.981;0.991	P;B;P;P	0.61132	0.884;0.241;0.844;0.884	T	0.56613	-0.7950	10	0.49607	T	0.09	-29.6619	13.1551	0.59511	0.0:1.0:0.0:0.0	.	162;90;162;162	Q7Z7F5;B3KRR0;Q96S40;P07992	.;.;.;ERCC1_HUMAN	N	162;162;90;162	ENSP00000300853:K162N;ENSP00000345203:K162N;ENSP00000394875:K90N;ENSP00000013807:K162N	ENSP00000013807:K162N	K	-	3	2	ERCC1	50614235	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.968000	0.49224	2.159000	0.67721	0.462000	0.41574	AAG	ERCC1	-	pfam_DNA_repair_Rad10,superfamily_Restrct_endonuc-II-like,tigrfam_DNA_repair_Rad10	ENSG00000012061		0.627	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC1	HGNC	protein_coding	OTTHUMT00000459542.1	-	0	26	0	C	NM_001983		45922395	-1	tier1	-	no_errors	ENST00000013807	ensembl	human	known	74_37	missense	40.74	16	11	SNP	1.000	A	A	45922395	C	A	45922395	3	1	182	1	0	0	0	0	1	0	0	0	5228	912	32	3	560	3	ERCC1	19	45922395	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	1089233	45922395	13206588	258	45434											
GYS1	2997	genome.wustl.edu	37	chr19	49481244	49481244	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttatccagcatcttgttcatGtcgggaaggctcccactgca	8	12	9	12	1	2	0	1	0	1	0	5	1	4	1	2	2	2	4	2	2	2	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:49481244G>T	ENST00000323798.3	-	10	1441	c.1245C>A	c.(1243-1245)gaC>gaA	p.D415E	GYS1_ENST00000544287.1_Missense_Mutation_p.D48E|GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.D351E|GYS1_ENST00000541188.1_Missense_Mutation_p.D335E	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	415					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)		TCTTGTTCATGTCGGGAAGGC	0.532																																																	0													158	123	135					19																	49481244		2203	4300	6503	SO:0001583	missense	0				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.1245C>A	19.37:g.49481244G>T	ENSP00000317904:p.Asp415Glu		Q9BTT9	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.D415E	ENST00000323798.3	37	c.1245	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599288	0.46318	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.22	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.39514	1.22	0.80722	D	1	P;D;D	0.67145	0.65;0.961;0.996	P;P;D	0.66716	0.615;0.828;0.946	T	0.55224	-0.8174	10	0.30854	T	0.27	-44.5736	7.8267	0.29320	0.2851:0.0:0.7149:0.0	.	335;351;415	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	E	415;351;335;48	ENSP00000317904:D415E;ENSP00000263276:D351E;ENSP00000437922:D335E;ENSP00000444004:D48E	ENSP00000263276:D351E	D	-	3	2	GYS1	54173056	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	0.642000	0.24735	0.737000	0.32582	-0.339000	0.08088	GAC	GYS1	-	pfam_Glycogen_synth	ENSG00000104812		0.532	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1	-	0	57	0	G	NM_002103		49481244	-1	tier1	-	no_errors	ENST00000323798	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	49481244	G	T	49481244	3	4	182	1	0	0	0	0	1	0	0	0	6939	1368	48	3	996	3	GYS1	19	49481244	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	3558849	49481244	9647739	259	45435											
NCR1	9437	genome.wustl.edu	37	chr19	55417912	55417912	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aaaccgttcatctgggccgaGccccatttcatggttccaaa	10	10	8	13	2	3	0	2	0	1	0	4	1	4	0	5	2	2	2	5	2	2	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:55417912G>T	ENST00000291890.4	+	3	140	c.102G>T	c.(100-102)gaG>gaT	p.E34D	NCR1_ENST00000350790.5_Intron|NCR1_ENST00000338835.5_Missense_Mutation_p.E34D|NCR1_ENST00000447255.1_Missense_Mutation_p.E34D|NCR1_ENST00000598576.1_Missense_Mutation_p.E22D|NCR1_ENST00000594765.1_Missense_Mutation_p.E34D|NCR1_ENST00000357397.5_Intron	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	34	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TCTGGGCCGAGCCCCATTTCA	0.542																																																	0													60	64	63					19																	55417912		2203	4300	6503	SO:0001583	missense	0			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.102G>T	19.37:g.55417912G>T	ENSP00000291890:p.Glu34Asp		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	smart_Ig_sub	p.E34D	ENST00000291890.4	37	c.102	CCDS12911.1	19	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673884	0.29693	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.14516	2.5;2.5;2.5	3.87	-7.75	0.01236	Immunoglobulin-like fold (1);	0.972768	0.08460	N	0.942522	T	0.13884	0.0336	L	0.48260	1.515	0.09310	N	0.999997	B;B;B	0.29805	0.257;0.157;0.018	B;B;B	0.33392	0.163;0.148;0.039	T	0.20371	-1.0277	10	0.87932	D	0	.	15.3793	0.74641	0.188:0.0:0.812:0.0	.	34;34;34	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	D	34	ENSP00000291890:E34D;ENSP00000404434:E34D;ENSP00000339515:E34D	ENSP00000291890:E34D	E	+	3	2	NCR1	60109724	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.544000	0.06077	-2.229000	0.00720	-1.027000	0.02421	GAG	NCR1	-	smart_Ig_sub	ENSG00000189430		0.542	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	HGNC	protein_coding	OTTHUMT00000465680.1		0	32	0	G			55417912	1			no_errors	ENST00000291890	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.000	T	T	55417912	G	T	55417912	3	4	182	1	0	0	0	0	1	0	0	0	10276	962	34	3	112	3	NCR1	19	55417912	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	5936668	55417912	3711071	260	45436											
PTPRH	5794	genome.wustl.edu	37	chr19	55698885	55698885	+	Silent	SNP	C	C	A	0	0	0	1	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	ggaacccgagactcacagggCagcacatttctgtagcggtt	10	8	12	11	2	2	1	1	0	1	1	2	3	2	2	1	3	3	4	1	3	2	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:55698885C>A	ENST00000376350.3	-	14	2584	c.2562G>T	c.(2560-2562)ctG>ctT	p.L854L	PTPRH_ENST00000263434.5_Silent_p.L676L	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	854	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)		ACTCACAGGGCAGCACATTTC	0.587																																																	0													113	87	95					19																	55698885		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2562G>T	19.37:g.55698885C>A			C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L854	ENST00000376350.3	37	c.2562	CCDS33110.1	19																																																																																			PTPRH	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000080031		0.587	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	-	0	53	0	C			55698885	-1	tier1	-	no_errors	ENST00000376350	ensembl	human	known	74_37	silent	43.48	39	30	SNP	1.000	A	A	55698885	C	A	55698885	2	1	182	1	0	0	0	0	0	0	0	1	12848	697	25	3		3	PTPRH	19	55698885	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	280973	55698885	3430098	261	45437											
TRIM28	10155	genome.wustl.edu	37	chr19	59056833	59056833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacagtgcttctccaaaGacatcgtggagaattatttc	13	11	8	9	1	1	2	0	0	1	2	4	3	1	2	1	1	3	2	1	1	4	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr19:59056833G>T	ENST00000253024.5	+	2	671	c.382G>T	c.(382-384)Gac>Tac	p.D128Y	RN7SL525P_ENST00000579267.1_RNA|TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	128	RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(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;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTTCTCCAAAGACATCGTGGA	0.552																																																	0													116	122	120					19																	59056833		2203	4300	6503	SO:0001583	missense	0				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.382G>T	19.37:g.59056833G>T	ENSP00000253024:p.Asp128Tyr		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D128Y	ENST00000253024.5	37	c.382	CCDS12985.1	19	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923839	0.73213	.	.	ENSG00000130726	ENST00000253024	T	0.68765	-0.35	4.36	3.29	0.37713	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.49916	D	0.000128	T	0.61540	0.2355	M	0.65320	2	0.80722	D	1	B	0.21309	0.054	B	0.15870	0.014	T	0.60337	-0.7283	10	0.48119	T	0.1	-32.8226	11.4583	0.50195	0.0:0.0:0.818:0.182	.	128	Q13263	TIF1B_HUMAN	Y	128	ENSP00000253024:D128Y	ENSP00000253024:D128Y	D	+	1	0	TRIM28	63748645	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.913000	0.75759	0.926000	0.37118	0.457000	0.33378	GAC	TRIM28	-	NULL	ENSG00000130726		0.552	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM28	HGNC	protein_coding	OTTHUMT00000467074.1	-	0	60	0	G	NM_005762		59056833	1	tier1	-	no_errors	ENST00000253024	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	59056833	G	T	59056833	3	4	182	1	0	0	0	0	1	0	0	0	16550	942	33	3	388	3	TRIM28	19	59056833	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	3357948	59056833	72150	262	45438											
MKKS	8195	genome.wustl.edu	37	chr20	10388273	10388273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttacataccttgtgtctGatatatgcagccaaatgagt	12	14	7	8	0	2	2	0	2	2	0	2	2	2	2	2	0	4	1	2	0	5	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr20:10388273G>C	ENST00000347364.3	-	5	2025	c.1263C>G	c.(1261-1263)atC>atG	p.I421M	MKKS_ENST00000399054.2_Missense_Mutation_p.I421M	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	421					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						CCTTGTGTCTGATATATGCAG	0.413																																					Melanoma(79;1979 2212 6640)												0													117	89	98					20																	10388273		2203	4300	6503	SO:0001583	missense	0			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.1263C>G	20.37:g.10388273G>C	ENSP00000246062:p.Ile421Met		A8K7B0|D3DW18	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	p.I421M	ENST00000347364.3	37	c.1263	CCDS13111.1	20	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746018	0.49151	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.80738	-1.41;-1.41	5.93	1.56	0.23342	.	0.298223	0.36444	N	0.002599	T	0.81394	0.4813	M	0.65975	2.015	0.30370	N	0.782937	P	0.48162	0.906	P	0.55577	0.779	T	0.76680	-0.2870	10	0.72032	D	0.01	-23.3699	2.6747	0.05078	0.2245:0.099:0.5156:0.1609	.	421	Q9NPJ1	MKKS_HUMAN	M	421	ENSP00000246062:I421M;ENSP00000382008:I421M	ENSP00000246062:I421M	I	-	3	3	MKKS	10336273	0.990000	0.36364	0.999000	0.59377	0.625000	0.37756	0.313000	0.19415	0.424000	0.26061	-0.253000	0.11424	ATC	MKKS	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000125863		0.413	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKKS	HGNC	protein_coding	OTTHUMT00000077991.3	-	0	44	0	G			10388273	-1	tier1	-	no_errors	ENST00000347364	ensembl	human	known	74_37	missense	30.95	58	26	SNP	0.987	C	C	10388273	G	C	10388273	3	2	182	1	0	0	0	0	1	0	0	0	9638	1280	45	5	457	5	MKKS	20	10388273	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		10388273	52637247	263	45439											
BTBD3	22903	genome.wustl.edu	37	chr20	11904297	11904297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggagggcagatccctgaaCttatattctatgcttgaaaa	13	11	10	7	0	1	3	0	2	1	1	2	4	2	4	1	2	2	2	1	2	6	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr20:11904297C>T	ENST00000405977.1	+	5	2177	c.1552C>T	c.(1552-1554)Ctt>Ttt	p.L518F	BTBD3_ENST00000378226.2_Missense_Mutation_p.L518F|BTBD3_ENST00000254977.3_Missense_Mutation_p.L457F|BTBD3_ENST00000399006.2_Missense_Mutation_p.L457F	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	518					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						GATCCCTGAACTTATATTCTA	0.478																																																	0													110	102	105					20																	11904297		2203	4300	6503	SO:0001583	missense	0			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.1552C>T	20.37:g.11904297C>T	ENSP00000384545:p.Leu518Phe		D3DW19|Q5JY73	Missense_Mutation	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.L518F	ENST00000405977.1	37	c.1552	CCDS13113.1	20	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322472	0.81580	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	D;D;D;D	0.84589	-1.8;-1.8;-1.87;-1.87	5.98	5.98	0.97165	PHR (1);	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92464	0.5980	10	0.87932	D	0	.	19.5094	0.95135	0.0:1.0:0.0:0.0	.	518	Q9Y2F9	BTBD3_HUMAN	F	457;457;518;518	ENSP00000254977:L457F;ENSP00000381971:L457F;ENSP00000384545:L518F;ENSP00000367471:L518F	ENSP00000254977:L457F	L	+	1	0	BTBD3	11852297	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.815000	0.86186	2.861000	0.98227	0.650000	0.86243	CTT	BTBD3	-	pfam_PHR	ENSG00000132640		0.478	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD3	HGNC	protein_coding	OTTHUMT00000078021.3		0	53	0	C			11904297	1			no_errors	ENST00000378226	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	T	T	11904297	C	T	11904297	3	4	182	1	0	0	0	0	1	0	0	0	1548	565	20	3	1566	3	BTBD3	20	11904297	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	1516024	11904297	51121223	264	45440											
GZF1	64412	genome.wustl.edu	37	chr20	23345551	23345551	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccctcaccccagtggtctCacggattccttggactaccc	6	9	9	17	1	2	0	2	0	1	0	4	2	3	2	5	4	1	0	5	4	1	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr20:23345551C>G	ENST00000338121.5	+	2	608	c.531C>G	c.(529-531)ctC>ctG	p.L177L	GZF1_ENST00000377051.2_Silent_p.L177L|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	177					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CCAGTGGTCTCACGGATTCCT	0.567																																																	0													51	53	52					20																	23345551		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.531C>G	20.37:g.23345551C>G			A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L177	ENST00000338121.5	37	c.531	CCDS13151.1	20																																																																																			GZF1	-	NULL	ENSG00000125812		0.567	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1	-	0	36	0	C	NM_022482		23345551	1	tier1	-	no_errors	ENST00000338121	ensembl	human	known	74_37	silent	35.85	34	19	SNP	0.000	G	G	23345551	C	G	23345551	2	3	182	1	0	0	0	0	0	0	0	1	6941	813	29	5		5	GZF1	20	23345551	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	11441254	23345551	39679969	265	45441											
C20orf186	149954	genome.wustl.edu	37	chr20	31680384	31680384	+	Missense_Mutation	SNP	A	A	G	1	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	acaccaagtcccagctggccAtgtctgccaacttcctgggc	8	8	9	16	0	1	0	0	0	1	0	3	0	3	0	5	2	3	1	5	2	2	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr20:31680384A>G	ENST00000375483.3	+	9	1264	c.1264A>G	c.(1264-1266)Atg>Gtg	p.M422V		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	422						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCAGCTGGCCATGTCTGCCAA	0.582																																																	0													95	87	89					20																	31680384		2203	4300	6503	SO:0001583	missense	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1264A>G	20.37:g.31680384A>G	ENSP00000364632:p.Met422Val		Q5TDX6	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.M422V	ENST00000375483.3	37	c.1264	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	A	0.899	-0.722941	0.03158	.	.	ENSG00000186191	ENST00000375483	T	0.04454	3.62	5.35	4.25	0.50352	.	0.246812	0.35013	N	0.003504	T	0.01454	0.0047	N	0.00554	-1.385	0.21841	N	0.999518	B	0.02656	0.0	B	0.01281	0.0	T	0.46331	-0.9199	9	.	.	.	-8.8996	9.7302	0.40357	0.8258:0.1742:0.0:0.0	.	422	P59827	BPIB4_HUMAN	V	422	ENSP00000364632:M422V	.	M	+	1	0	BPIFB4	31144045	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	2.408000	0.44574	0.969000	0.38237	-0.465000	0.05216	ATG	BPIFB4	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000186191		0.582	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	-	0	13	0	A	NM_182519		31680384	1	tier1	-	no_errors	ENST00000375483	ensembl	human	known	74_37	missense	22.22	42	12	SNP	1.000	G	G	31680384	A	G	31680384	3	3	182	1	0	0	0	0	1	0	0	0	2105	217	8	4	1298	4	C20orf186	20	31680384	Missense_Mutation	SNP	A	TCGA-Z6-A8JE-01A-11D-A37C-09	8334833	31680384	31345136	266	45442											
ADNP	23394	genome.wustl.edu	37	chr20	49509522	49509522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatggtaagcaacagattCagctggggcatccctcagat	11	8	12	10	0	2	2	2	0	0	2	3	2	3	2	1	4	3	5	1	4	2	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr20:49509522C>T	ENST00000396029.3	-	5	2296	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	ADNP_ENST00000349014.3_Missense_Mutation_p.E577K|ADNP_ENST00000396032.3_Missense_Mutation_p.E577K|ADNP_ENST00000371602.4_Missense_Mutation_p.E577K	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	577					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						GCAACAGATTCAGCTGGGGCA	0.438																																																	0													152	150	150					20																	49509522		2203	4300	6503	SO:0001583	missense	0			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.1729G>A	20.37:g.49509522C>T	ENSP00000379346:p.Glu577Lys		E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.E577K	ENST00000396029.3	37	c.1729	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423205	0.83559	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.75	5.75	0.90469	.	0.046453	0.85682	D	0.000000	T	0.54727	0.1876	L	0.29908	0.895	0.80722	D	1	B	0.22080	0.064	B	0.20767	0.031	T	0.47235	-0.9133	9	0.40728	T	0.16	-8.3139	19.9474	0.97186	0.0:1.0:0.0:0.0	.	577	Q9H2P0	ADNP_HUMAN	K	577	.	ENSP00000342905:E577K	E	-	1	0	ADNP	48942929	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.423000	0.80229	2.710000	0.92621	0.650000	0.86243	GAA	ADNP	-	NULL	ENSG00000101126		0.438	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	-	0	69	0	C	NM_181442		49509522	-1	tier1	-	no_errors	ENST00000349014	ensembl	human	known	74_37	missense	28.57	80	32	SNP	1.000	T	T	49509522	C	T	49509522	3	4	182	1	0	0	0	0	1	0	0	0	323	835	29	3	1583	3	ADNP	20	49509522	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	17829138	49509522	13515998	267	45443											
PMEPA1	56937	genome.wustl.edu	37	chr20	56227196	56227196	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgtgtgtgtggtggagccgGgtcccctccagcaaggaggg	6	8	18	9	1	0	0	0	0	0	0	2	2	2	2	4	5	2	1	4	5	1	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr20:56227196G>T	ENST00000341744.3	-	4	1096	c.777C>A	c.(775-777)acC>acA	p.T259T	PMEPA1_ENST00000347215.4_Silent_p.T224T|PMEPA1_ENST00000395816.3_Silent_p.T209T|PMEPA1_ENST00000395814.1_Silent_p.T209T|PMEPA1_ENST00000265626.4_Silent_p.T209T	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	259					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						GGTGGAGCCGGGTCCCCTCCA	0.657																																																	0													20	21	20					20																	56227196		2195	4294	6489	SO:0001819	synonymous_variant	0			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.777C>A	20.37:g.56227196G>T			Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Silent	SNP	NULL	p.T259	ENST00000341744.3	37	c.777	CCDS13463.1	20																																																																																			PMEPA1	-	NULL	ENSG00000124225		0.657	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEPA1	HGNC	protein_coding	OTTHUMT00000079858.2	-	0	41	0	G	NM_020182		56227196	-1	tier1	-	no_errors	ENST00000341744	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.989	T	T	56227196	G	T	56227196	2	4	182	1	0	0	0	0	0	0	0	1	12171	1219	43	3		3	PMEPA1	20	56227196	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	6717674	56227196	6798324	268	45444											
TAF4	6874	genome.wustl.edu	37	chr20	60639546	60639546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggatgttggtcgggttctGaggcggctgcggcaagcggg	4	9	20	8	4	1	1	0	1	1	0	2	2	1	2	0	7	2	4	0	7	1	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr20:60639546G>C	ENST00000252996.4	-	1	1320	c.1321C>G	c.(1321-1323)Cag>Gag	p.Q441E	hsa-mir-3195_ENST00000585001.1_RNA	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	441					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTCGGGTTCTGAGGCGGCTGC	0.721																																																	0													6	8	7					20																	60639546		2105	4195	6300	SO:0001583	missense	0			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1321C>G	20.37:g.60639546G>C	ENSP00000252996:p.Gln441Glu		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.Q441E	ENST00000252996.4	37	c.1321	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	g	15.18	2.757680	0.49468	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.34667	1.35;1.35	2.75	2.75	0.32379	.	0.651994	0.13882	U	0.356250	T	0.30885	0.0779	L	0.46157	1.445	0.38666	D	0.952181	P	0.48764	0.915	B	0.44108	0.441	T	0.19582	-1.0301	10	0.05833	T	0.94	.	13.4609	0.61227	0.0:0.0:1.0:0.0	.	441	O00268	TAF4_HUMAN	E	441;305	ENSP00000252996:Q441E;ENSP00000399091:Q305E	ENSP00000252996:Q441E	Q	-	1	0	TAF4	60072941	1.000000	0.71417	0.996000	0.52242	0.735000	0.41995	7.906000	0.87423	1.104000	0.41587	0.177000	0.17058	CAG	TAF4	-	NULL	ENSG00000130699		0.721	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	-	0	22	0	G	NM_003185		60639546	-1	tier1	-	no_errors	ENST00000252996	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	C	C	60639546	G	C	60639546	3	2	182	1	0	0	0	0	1	0	0	0	15573	1299	45	5	1996	5	TAF4	20	60639546	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	4412350	60639546	2385974	269	45445											
TCEA2	6919	genome.wustl.edu	37	chr20	62697888	62697888	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctatcacgctgcacctgctCcaggtaggtccctgcctgcc	5	9	9	18	1	1	0	1	0	0	0	3	0	3	0	6	2	4	4	6	2	2	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr20:62697888C>G	ENST00000343484.5	+	2	301	c.132C>G	c.(130-132)ctC>ctG	p.L44L	TCEA2_ENST00000395053.3_Silent_p.L44L|TCEA2_ENST00000361317.2_Silent_p.L17L|TCEA2_ENST00000465111.1_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	44	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGCACCTGCTCCAGGTAGGTC	0.622																																																	0													72	69	70					20																	62697888		2203	4300	6503	SO:0001819	synonymous_variant	0			U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.132C>G	20.37:g.62697888C>G			B3KNM1|Q8TD37|Q8TD38	Silent	SNP	pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.L44	ENST00000343484.5	37	c.132	CCDS13553.1	20																																																																																			TCEA2	-	pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pirsf_TF_IIS-rel,tigrfam_TFSII	ENSG00000171703		0.622	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA2	HGNC	protein_coding	OTTHUMT00000080277.2	-	0	36	0	C	NM_198723		62697888	1	tier1	-	no_errors	ENST00000343484	ensembl	human	known	74_37	silent	55.81	19	24	SNP	0.056	G	G	62697888	C	G	62697888	2	3	182	1	0	0	0	0	0	0	0	1	15715	842	30	5		5	TCEA2	20	62697888	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	2058342	62697888	327632	270	45446											
IFNAR1	3454	genome.wustl.edu	37	chr21	34713474	34713474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgactcatttacaccatttCgcaaaggtaagaaaaagttg	15	12	7	7	1	1	2	1	1	0	1	2	2	1	2	1	1	1	3	1	1	5	6	rs142890975	byFrequency	TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr21:34713474C>T	ENST00000270139.3	+	3	522	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	IFNAR1_ENST00000442357.2_Missense_Mutation_p.R124C|IFNAR1_ENST00000416947.2_Missense_Mutation_p.R55C	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	124	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	TACACCATTTCGCAAAGGTAA	0.328																																					Esophageal Squamous(73;817 1211 32990 35667 42746)												0								C	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	59	59	59		370	-5	0	21	dbSNP_134	59	16,8582	11.9+/-42.8	1,14,4284	yes	missense	IFNAR1	NM_000629.2	180	1,18,6483	TT,TC,CC		0.1861,0.0908,0.1538	possibly-damaging	124/558	34713474	20,12984	2203	4299	6502	SO:0001583	missense	0				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.370C>T	21.37:g.34713474C>T	ENSP00000270139:p.Arg124Cys		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1	p.R124C	ENST00000270139.3	37	c.370	CCDS13624.1	21	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980751	0.18812	9.08E-4	0.001861	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442071;ENST00000442357	T;T;T;T	0.57273	0.9;0.9;0.41;0.9	5.76	-5.01	0.02991	Fibronectin, type III (1);Immunoglobulin-like fold (1);	3.067170	0.00877	N	0.002091	T	0.34164	0.0888	L	0.29908	0.895	0.09310	N	0.999998	P	0.52577	0.954	B	0.37239	0.244	T	0.47100	-0.9143	10	0.48119	T	0.1	4.7639	5.5377	0.17021	0.566:0.1696:0.1963:0.0681	.	124	P17181	INAR1_HUMAN	C	55;124;124;124	ENSP00000395606:R55C;ENSP00000270139:R124C;ENSP00000400161:R124C;ENSP00000407406:R124C	ENSP00000270139:R124C	R	+	1	0	IFNAR1	33635344	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-1.162000	0.03141	-1.573000	0.01659	-0.261000	0.10672	CGC	IFNAR1	-	superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1	ENSG00000142166		0.328	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNAR1	HGNC	protein_coding	OTTHUMT00000139823.4	-	0	29	0	C			34713474	1	tier1	rs142890975	no_errors	ENST00000270139	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.001	T	T	34713474	C	T	34713474	3	4	182	1	0	0	0	0	1	0	0	0	7571	884	31	1	380	1	IFNAR1	21	34713474	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09		34713474	13416421	271	45447											
MORC3	23515	genome.wustl.edu	37	chr21	37705976	37705976	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttacatacaaattctacTagtcacacctggccattcag	12	14	4	11	0	3	0	2	0	1	0	3	0	3	0	2	1	3	0	2	1	5	8			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr21:37705976T>C	ENST00000400485.1	+	2	148	c.72T>C	c.(70-72)acT>acC	p.T24T	MORC3_ENST00000487909.1_Intron	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	24					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						CAAATTCTACTAGTCACACCT	0.308																																																	0													141	132	134					21																	37705976		1831	4087	5918	SO:0001819	synonymous_variant	0			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.72T>C	21.37:g.37705976T>C			A8KA92|Q9UEZ2	Silent	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.T24	ENST00000400485.1	37	c.72	CCDS42924.1	21																																																																																			MORC3	-	superfamily_HATPase_ATP-bd	ENSG00000159256		0.308	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	-	0	89	0	T	NM_015358		37705976	1	tier1	-	no_errors	ENST00000400485	ensembl	human	known	74_37	silent	66.18	23	45	SNP	1.000	C	C	37705976	T	C	37705976	2	2	182	1	0	0	0	0	0	0	0	1	9741	1509	53	4		4	MORC3	21	37705976	Silent	SNP	T	TCGA-Z6-A8JE-01A-11D-A37C-09	2992502	37705976	10423919	272	45448											
CABIN1	23523	genome.wustl.edu	37	chr22	24479322	24479322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagtaaggccaggtacctgGaggaacactcggcccagcag	12	4	14	11	1	0	1	0	0	0	1	1	3	0	3	3	5	3	3	3	5	3	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr22:24479322G>A	ENST00000398319.2	+	20	3275	c.2890G>A	c.(2890-2892)Gag>Aag	p.E964K	CABIN1_ENST00000405822.2_Missense_Mutation_p.E914K|CABIN1_ENST00000263119.5_Missense_Mutation_p.E964K	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	964					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						CAGGTACCTGGAGGAACACTC	0.537																																																	0													73	62	66					22																	24479322		2203	4300	6503	SO:0001583	missense	0			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.2890G>A	22.37:g.24479322G>A	ENSP00000381364:p.Glu964Lys		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E964K	ENST00000398319.2	37	c.2890	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778585	0.90195	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.65549	0.03;-0.16;0.03	4.94	3.92	0.45320	.	0.054132	0.64402	D	0.000001	T	0.73822	0.3636	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.98	T	0.74968	-0.3483	10	0.52906	T	0.07	.	12.7253	0.57166	0.0804:0.0:0.9196:0.0	.	914;964	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	K	964;914;964	ENSP00000263119:E964K;ENSP00000384694:E914K;ENSP00000381364:E964K	ENSP00000263119:E964K	E	+	1	0	CABIN1	22809322	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.376000	0.97181	1.238000	0.43771	0.585000	0.79938	GAG	CABIN1	-	NULL	ENSG00000099991		0.537	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	-	0	20	0	G	NM_012295		24479322	1	tier1	-	no_errors	ENST00000263119	ensembl	human	known	74_37	missense	57.14	9	12	SNP	1.000	A	A	24479322	G	A	24479322	3	1	182	1	0	0	0	0	1	0	0	0	2535	1175	41	3	2964	3	CABIN1	22	24479322	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		24479322	26825244	273	45449											
ISX	91464	genome.wustl.edu	37	chr22	35481509	35481509	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacgagctgttgtccatcGgctcaagatcagctggcctc	7	9	10	15	2	2	1	2	0	0	1	5	2	3	1	3	2	2	4	3	2	1	1	rs202084562		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr22:35481509G>T	ENST00000308700.6	+	4	1513	c.561G>T	c.(559-561)tcG>tcT	p.S187S	ISX_ENST00000404699.2_Silent_p.S187S	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	187					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S187S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GTTGTCCATCGGCTCAAGATC	0.617													g|||	1	0.000199681	0	0	5008	,	,		19555	0		0.001	False		,,,				2504	0																1	Substitution - coding silent(1)	ovary(1)											161	129	140					22																	35481509		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"Homeoboxes / PRD class"	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.561G>T	22.37:g.35481509G>T			Q68DJ5	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S187	ENST00000308700.6	37	c.561	CCDS33640.1	22																																																																																			ISX	-	NULL	ENSG00000175329		0.617	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISX	HGNC	protein_coding	OTTHUMT00000320662.1		0	24	0	G	NM_001008494		35481509	1			no_errors	ENST00000308700	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.000	T	T	35481509	G	T	35481509	2	4	182	1	0	0	0	0	0	0	0	1	7892	1103	39	2		2	ISX	22	35481509	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	11002187	35481509	15823057	274	45450											
MICALL1	85377	genome.wustl.edu	37	chr22	38313800	38313800	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaaccagaagatgtggctCaggtaggcagatacctggag	12	7	15	7	0	1	3	1	0	0	3	1	5	1	5	2	5	2	3	2	5	4	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr22:38313800C>T	ENST00000215957.6	+	4	550	c.424C>T	c.(424-426)Cag>Tag	p.Q142*		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	142					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)					AGATGTGGCTCAGGTAGGCAG	0.587																																																	0													72	61	64					22																	38313800		2203	4300	6503	SO:0001587	stop_gained	0			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.424C>T	22.37:g.38313800C>T	ENSP00000215957:p.Gln142*		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Nonsense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.Q142*	ENST00000215957.6	37	c.424	CCDS13961.1	22	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433615	0.62955	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	.	.	.	3.8	1.6	0.23607	.	0.591514	0.15289	N	0.270291	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	10.0289	0.42087	0.0:0.5993:0.4007:0.0	.	.	.	.	X	58;142	.	ENSP00000215957:Q142X	Q	+	1	0	MICALL1	36643746	0.954000	0.32549	0.914000	0.36105	0.107000	0.19398	1.163000	0.31798	0.528000	0.28580	-0.485000	0.04761	CAG	MICALL1	-	NULL	ENSG00000100139		0.587	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4		0	31	0	C	NM_033386		38313800	1			no_errors	ENST00000215957	ensembl	human	known	74_37	nonsense	31.03	20	9	SNP	0.924	T	T	38313800	C	T	38313800	4	4	182	1	0	0	0	0	0	1	0	0	9611	827	29	3	438	3	MICALL1	22	38313800	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	2832291	38313800	12990766	275	45451											
MEI1	150365	genome.wustl.edu	37	chr22	42114165	42114165	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctttatgggaagctatactCctcaccagtggcagctgaga	10	10	10	11	0	1	1	1	1	0	1	2	3	2	2	3	2	3	3	3	2	4	4			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chr22:42114165C>G	ENST00000401548.3	+	6	660	c.620C>G	c.(619-621)tCc>tGc	p.S207C	MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAGCTATACTCCTCACCAGTG	0.507																																																	0													88	86	87					22																	42114165		1953	4136	6089	SO:0001583	missense	0			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.620C>G	22.37:g.42114165C>G	ENSP00000384115:p.Ser207Cys			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S207C	ENST00000401548.3	37	c.620	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155504	0.78114	.	.	ENSG00000167077	ENST00000401548	T	0.18174	2.23	5.63	5.63	0.86233	Armadillo-type fold (1);	0.340546	0.29218	N	0.012794	T	0.39306	0.1073	M	0.61703	1.905	0.80722	D	1	D;D	0.67145	0.963;0.996	P;P	0.60473	0.639;0.875	T	0.08638	-1.0712	10	0.72032	D	0.01	-7.1038	19.6736	0.95921	0.0:1.0:0.0:0.0	.	207;207	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	C	207	ENSP00000384115:S207C	ENSP00000384115:S207C	S	+	2	0	MEI1	40444111	1.000000	0.71417	0.931000	0.37212	0.894000	0.52154	3.604000	0.54081	2.664000	0.90586	0.561000	0.74099	TCC	MEI1	-	superfamily_ARM-type_fold	ENSG00000167077		0.507	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	-	0	36	0	C	NM_152513		42114165	1	tier1	-	no_errors	ENST00000401548	ensembl	human	known	74_37	missense	60.00	16	24	SNP	1.000	G	G	42114165	C	G	42114165	3	3	182	1	0	0	0	0	1	0	0	0	9503	855	30	5	642	5	MEI1	22	42114165	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	3800365	42114165	9190401	276	45452											
PPP2R3B	28227	genome.wustl.edu	37	chrX	307471	307471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgagtggaactcggacgcctCcttcaggaacgacagccccg	9	5	12	15	5	1	0	1	0	0	0	3	5	2	3	4	3	3	0	4	3	2	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chrX:307471C>T	ENST00000390665.3	-	5	775	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	253					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(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)				TCGGACGCCTCCTTCAGGAAC	0.711																																																	0													57	69	65					X																	307471		2078	4211	6289	SO:0001583	missense	0			AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.757G>A	X.37:g.307471C>T	ENSP00000375080:p.Glu253Lys		Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.E253K	ENST00000390665.3	37	c.757	CCDS14104.1	X	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361342	0.82353	.	.	ENSG00000167393	ENST00000390665	T	0.29655	1.56	0.789	0.789	0.18607	.	0.073939	0.53938	U	0.000058	T	0.52322	0.1727	M	0.87180	2.865	0.09310	N	0.999998	D;D	0.65815	0.995;0.972	D;P	0.69142	0.962;0.621	T	0.35251	-0.9796	10	0.72032	D	0.01	.	7.359	0.26735	0.0:0.9999:0.0:1.0E-4	.	92;253	B4DE79;Q9Y5P8	.;P2R3B_HUMAN	K	253	ENSP00000375080:E253K	ENSP00000375080:E253K	E	-	1	0	PPP2R3B	227471	1.000000	0.71417	0.997000	0.53966	0.521000	0.34408	3.784000	0.55416	0.717000	0.32145	0.115000	0.15696	GAG	PPP2R3B	-	NULL	ENSG00000167393		0.711	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3B	HGNC	protein_coding	OTTHUMT00000055577.2	-	0	112	0	C	NM_013239		307471	-1	tier1	-	no_errors	ENST00000390665	ensembl	human	known	74_37	missense	48.15	28	26	SNP	1.000	T	T	307471	C	T	307471	3	4	182	1	0	0	0	0	1	0	0	0	12431	864	30	3	1006	3	PPP2R3B	23	307471	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09		307471	154963089	277	45453											
RBBP7	5931	genome.wustl.edu	37	chrX	16887221	16887221	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcacttcaggaagccactGaacggtaagactgggccact	12	7	11	11	1	2	2	2	1	0	1	2	3	2	3	2	3	2	1	2	3	3	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chrX:16887221G>A	ENST00000380087.2	-	2	499	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	RBBP7_ENST00000380084.4_Nonsense_Mutation_p.Q91*|RBBP7_ENST00000404022.1_Nonsense_Mutation_p.Q47*			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	47					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GGAAGCCACTGAACGGTAAGA	0.388																																																	0													112	98	103					X																	16887221		2203	4300	6503	SO:0001587	stop_gained	0			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"WD repeat domain containing"	9890	protein-coding gene	gene with protein product	"G1/S transition control protein-binding protein RbAp46", "retinoblastoma-binding protein 7", "retinoblastoma-binding protein RbAp46", "histone acetyltransferase type B subunit 2", "retinoblastoma-binding protein p46"	300825	"retinoblastoma-binding protein 7"			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.139C>T	X.37:g.16887221G>A	ENSP00000369427:p.Gln47*		Q5JP00	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q47*	ENST00000380087.2	37	c.139	CCDS14179.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.877102	0.98539	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000468092	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.1258	16.8394	0.85964	0.0:0.0:1.0:0.0	.	.	.	.	X	47;91;47;13	.	ENSP00000369424:Q91X	Q	-	1	0	RBBP7	16797142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.287000	0.76781	0.594000	0.82650	CAG	RBBP7	-	pfam_Histone-bd_RBBP4_N	ENSG00000102054		0.388	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP7	HGNC	protein_coding	OTTHUMT00000055920.2	-	0	32	0	G	NM_002893		16887221	-1	tier1	-	no_errors	ENST00000380087	ensembl	human	known	74_37	nonsense	77.78	8	28	SNP	1.000	A	A	16887221	G	A	16887221	4	1	182	1	0	0	0	0	0	1	0	0	13149	1299	45	3	1182	3	RBBP7	23	16887221	Nonsense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	16579750	16887221	138383339	278	45454											
MAGEB2	4113	genome.wustl.edu	37	chrX	30236789	30236789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	tctcaatgttcctcaggtcaCtgaagcagaggaagaagagg	13	8	12	8	0	3	4	3	1	1	3	5	5	4	5	1	3	1	2	1	3	4	1			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chrX:30236789C>G	ENST00000378988.4	+	2	193	c.92C>G	c.(91-93)aCt>aGt	p.T31S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	31										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CCTCAGGTCACTGAAGCAGAG	0.592																																																	0													38	35	36					X																	30236789		2202	4300	6502	SO:0001583	missense	0			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.92C>G	X.37:g.30236789C>G	ENSP00000368273:p.Thr31Ser		O75860	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.T31S	ENST00000378988.4	37	c.92	CCDS14219.1	X	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005639	0.35415	.	.	ENSG00000099399	ENST00000378988	T	0.05081	3.5	3.43	0.448	0.16614	Melanoma associated antigen, MAGE, N-terminal (1);	1.597600	0.03359	N	0.197417	T	0.18676	0.0448	M	0.73319	2.225	0.09310	N	1	D	0.71674	0.998	D	0.68353	0.957	T	0.10474	-1.0628	10	0.35671	T	0.21	.	1.2353	0.01952	0.2272:0.4132:0.2187:0.1408	.	31	O15479	MAGB2_HUMAN	S	31	ENSP00000368273:T31S	ENSP00000368273:T31S	T	+	2	0	MAGEB2	30146710	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.352000	0.07701	-0.022000	0.13986	0.513000	0.50165	ACT	MAGEB2	-	pfam_Melanoma_ass_antigen_N	ENSG00000099399		0.592	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB2	HGNC	protein_coding	OTTHUMT00000056157.1	-	0	34	0	C	NM_002364		30236789	1	tier1	-	no_errors	ENST00000378988	ensembl	human	known	74_37	missense	50.00	23	23	SNP	0.000	G	G	30236789	C	G	30236789	3	3	182	1	0	0	0	0	1	0	0	0	9214	565	20	5	94	5	MAGEB2	23	30236789	Missense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	13349568	30236789	125033771	279	45455											
MAGEB3	4114	genome.wustl.edu	37	chrX	30254354	30254354	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtctatcctccactgtgCagtctcgcacagaccctcta	8	10	8	15	1	3	1	0	0	3	1	6	1	5	1	3	1	1	2	3	1	2	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chrX:30254354C>T	ENST00000361644.2	+	5	1050	c.313C>T	c.(313-315)Cag>Tag	p.Q105*		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	105										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CTCCACTGTGCAGTCTCGCAC	0.408																																																	0													50	43	46					X																	30254354		2202	4300	6502	SO:0001587	stop_gained	0			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.313C>T	X.37:g.30254354C>T	ENSP00000355198:p.Gln105*		A0AVE4|B3KQ52|O75861	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Q105*	ENST00000361644.2	37	c.313	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.563040	0.97667	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	.	.	.	4.1	-4.72	0.03269	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	10.0324	0.42109	0.7336:0.1553:0.111:0.0	.	.	.	.	X	105	.	ENSP00000355198:Q105X	Q	+	1	0	MAGEB3	30164275	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.969000	0.00668	-1.180000	0.02734	-0.237000	0.12165	CAG	MAGEB3	-	NULL	ENSG00000198798		0.408	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2		0	18	0	C	NM_002365		30254354	1			no_errors	ENST00000361644	ensembl	human	known	74_37	nonsense	14.29	18	3	SNP	0.000	T	T	30254354	C	T	30254354	4	4	182	1	0	0	0	0	0	1	0	0	9215	711	25	3	315	3	MAGEB3	23	30254354	Nonsense_Mutation	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	17565	30254354	125016206	280	45456											
NUDT10	170685	genome.wustl.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240		TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	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	0			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	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E69	ENST00000376006.3	37	c.207	CCDS35278.1	X																																																																																			NUDT10	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000122824		0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT10	HGNC	protein_coding	OTTHUMT00000056578.1		0	55	0	G	NM_153183		51076024	1			no_errors	ENST00000356450	ensembl	human	known	74_37	silent	7.58	61	5	SNP	1.000	A	A	51076024	G	A	51076024	2	1	182	1	0	0	0	0	0	0	0	1	10765	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	20821670	51076024	104194536	281	45457											
ARHGEF9	23229	genome.wustl.edu	37	chrX	62944429	62944429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccctcacaaagctggcagGaaaccatccctcctcatcgt	11	7	6	17	1	2	0	2	0	0	0	5	1	4	1	4	2	2	2	4	2	2	0			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chrX:62944429G>T	ENST00000253401.6	-	2	972	c.172C>A	c.(172-174)Cct>Act	p.P58T	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.P56T|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.P37T|ARHGEF9_ENST00000374870.4_Intron|ARHGEF9_ENST00000437457.2_Intron|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	58	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AAGCTGGCAGGAAACCATCCC	0.542																																																	0													136	88	105					X																	62944429		2203	4300	6503	SO:0001583	missense	0			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.172C>A	X.37:g.62944429G>T	ENSP00000253401:p.Pro58Thr		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.P58T	ENST00000253401.6	37	c.172	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927793	0.73327	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000374872	D;D;D	0.99454	-5.92;-5.92;-5.92	5.55	4.68	0.58851	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97102	0.9798	10	0.62326	D	0.03	.	12.5526	0.56236	0.0853:0.0:0.9147:0.0	.	56;58	B1AMR4;O43307	.;ARHG9_HUMAN	T	58;56;37	ENSP00000253401:P58T;ENSP00000364012:P56T;ENSP00000364006:P37T	ENSP00000253401:P58T	P	-	1	0	ARHGEF9	62861154	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.626000	0.83164	2.310000	0.77875	0.550000	0.68814	CCT	ARHGEF9	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000131089		0.542	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1		0	34	0	G			62944429	-1			no_errors	ENST00000253401	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	62944429	G	T	62944429	3	4	182	1	0	0	0	0	1	0	0	0	912	1174	41	3	1414	3	ARHGEF9	23	62944429	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	11868405	62944429	92326131	282	45458											
COL4A6	1288	genome.wustl.edu	37	chrX	107408226	107408226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggtgtcgccttgattcgagGatggcccagggggacctggg	5	8	18	10	3	0	1	0	1	0	0	2	4	0	3	3	6	0	0	3	6	0	2			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chrX:107408226G>C	ENST00000372216.4	-	39	3954	c.3854C>G	c.(3853-3855)tCc>tGc	p.S1285C	COL4A6_ENST00000538570.1_Missense_Mutation_p.S1260C|COL4A6_ENST00000545689.1_Missense_Mutation_p.S1260C|COL4A6_ENST00000334504.7_Missense_Mutation_p.S1284C|COL4A6_ENST00000394872.2_Missense_Mutation_p.S1285C	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1285	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTGATTCGAGGATGGCCCAGG	0.622									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													27	29	28					X																	107408226		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3854C>G	X.37:g.107408226G>C	ENSP00000361290:p.Ser1285Cys		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.S1285C	ENST00000372216.4	37	c.3854	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171211	0.38315	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24	4.36	4.36	0.52297	.	0.212641	0.24031	N	0.042193	D	0.95430	0.8516	M	0.61703	1.905	0.34802	D	0.736877	D;D;D;D	0.89917	0.998;0.963;1.0;1.0	D;P;D;D	0.72982	0.951;0.73;0.979;0.964	D	0.97801	1.0244	10	0.66056	D	0.02	.	12.7584	0.57350	0.0:0.1613:0.8387:0.0	.	1260;1260;1285;1284	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	C	1285;1284;1285;1284;1260;1260	ENSP00000361290:S1285C;ENSP00000334733:S1284C;ENSP00000378340:S1285C;ENSP00000443707:S1260C;ENSP00000445236:S1260C	ENSP00000334733:S1284C	S	-	2	0	COL4A6	107294882	1.000000	0.71417	0.996000	0.52242	0.817000	0.46193	3.814000	0.55643	2.112000	0.64535	0.544000	0.68410	TCC	COL4A6	-	pfam_Collagen	ENSG00000197565		0.622	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	-	0	22	0	G			107408226	-1	tier1	-	no_errors	ENST00000372216	ensembl	human	known	74_37	missense	71.88	9	23	SNP	0.995	C	C	107408226	G	C	107408226	3	2	182	1	0	0	0	0	1	0	0	0	3702	1174	41	5	1249	5	COL4A6	23	107408226	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	44463797	107408226	47862334	283	45459											
MAGEC1	9947	genome.wustl.edu	37	chrX	140996200	140996200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgcctcctgattcttattCtgagtatcatcttcataaag	10	15	5	11	1	5	2	2	2	3	0	6	2	6	2	3	0	0	1	3	0	4	6			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chrX:140996200C>T	ENST00000285879.4	+	4	3296	c.3010C>T	c.(3010-3012)Ctg>Ttg	p.L1004L	MAGEC1_ENST00000406005.2_Silent_p.L71L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1004	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GATTCTTATTCTGAGTATCAT	0.507										HNSCC(15;0.026)																																							0													91	83	85					X																	140996200		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3010C>T	X.37:g.140996200C>T			A0PK03|O75451|Q8TCV4	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L1004	ENST00000285879.4	37	c.3010	CCDS35417.1	X																																																																																			MAGEC1	-	pfam_MAGE,pfscan_MAGE	ENSG00000155495		0.507	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0	30	0	C	NM_005462		140996200	1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	silent	80.49	8	33	SNP	0.006	T	T	140996200	C	T	140996200	2	4	182	1	0	0	0	0	0	0	0	1	9218	912	32	3		3	MAGEC1	23	140996200	Silent	SNP	C	TCGA-Z6-A8JE-01A-11D-A37C-09	33587974	140996200	14274360	284	45460											
PASD1	139135	genome.wustl.edu	37	chrX	150840072	150840072	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	caaacacattacgccacgttGtcattcctgatctccaatct	11	12	4	14	2	3	1	1	1	2	0	5	1	4	1	3	0	2	1	3	0	3	3			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chrX:150840072G>A	ENST00000370357.4	+	13	1503	c.1258G>A	c.(1258-1260)Gtc>Atc	p.V420I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	420						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)					ACGCCACGTTGTCATTCCTGA	0.498																																																	0													213	169	184					X																	150840072		2203	4300	6503	SO:0001583	missense	0			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.1258G>A	X.37:g.150840072G>A	ENSP00000359382:p.Val420Ile		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	superfamily_PAS,smart_PAS,pfscan_PAS	p.V420I	ENST00000370357.4	37	c.1258	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404034	0.25291	.	.	ENSG00000166049	ENST00000370357	T	0.19250	2.16	3.64	-3.79	0.04320	.	.	.	.	.	T	0.08088	0.0202	N	0.19112	0.55	0.09310	N	1	P	0.41848	0.763	B	0.33196	0.159	T	0.12553	-1.0543	9	0.44086	T	0.13	-25.5295	1.144	0.01771	0.3717:0.2983:0.1897:0.1403	.	420	Q8IV76	PASD1_HUMAN	I	420	ENSP00000359382:V420I	ENSP00000359382:V420I	V	+	1	0	PASD1	150590728	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.808000	0.04515	-1.212000	0.02620	0.529000	0.55759	GTC	PASD1	-	NULL	ENSG00000166049		0.498	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	-	0	30	0	G	NM_173493		150840072	1	tier1	-	no_errors	ENST00000370357	ensembl	human	known	74_37	missense	23.08	30	9	SNP	0.000	A	A	150840072	G	A	150840072	3	1	182	1	0	0	0	0	1	0	0	0	11510	1377	48	3	1304	3	PASD1	23	150840072	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09	9843872	150840072	4430488	285	45461											
USP9Y	8287	genome.wustl.edu	37	chrY	14898609	14898609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagatatggaaactcgaaGgggtgcttatttaaatgctc	13	12	10	6	1	0	1	0	0	0	1	2	3	0	2	0	3	4	2	0	3	7	5			TCGA-Z6-A8JE-01A-11D-A37C-09	TCGA-Z6-A8JE-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a84c38da-9bf2-4a1b-be80-a58f22b44cff	7a2929d0-a1b6-4fde-86af-c153b1b66835	g.chrY:14898609G>T	ENST00000338981.3	+	24	4382	c.3437G>T	c.(3436-3438)aGg>aTg	p.R1146M	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1146					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						GAAACTCGAAGGGGTGCTTAT	0.398																																																	0													74	74	74					Y																	14898609		597	1951	2548	SO:0001583	missense	0			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.3437G>T	Y.37:g.14898609G>T	ENSP00000342812:p.Arg1146Met		O14601	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67	p.R1146M	ENST00000338981.3	37	c.3437	CCDS14781.1	Y																																																																																			USP9Y	-	superfamily_ARM-type_fold	ENSG00000114374		0.398	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP9Y	HGNC	protein_coding	OTTHUMT00000088703.2	-	0	38	0	G	NM_004654		14898609	1	tier1	-	no_errors	ENST00000338981	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T	T	14898609	G	T	14898609	3	4	182	1	0	0	0	0	1	0	0	0	17140	1000	35	3	3523	3	USP9Y	24	14898609	Missense_Mutation	SNP	G	TCGA-Z6-A8JE-01A-11D-A37C-09		14898609	44474957	286	45462											
TNFRSF25	8718	genome.wustl.edu	37	chr1	6525238	6525238	+	Missense_Mutation	SNP	T	T	C	0	1	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	ttggggacacacaaggcaggTggagttgccgcagggctccg	8	6	17	10	2	0	0	0	0	0	0	1	2	1	2	2	6	1	4	2	6	1	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:6525238T>C	ENST00000356876.3	-	3	292	c.205A>G	c.(205-207)Acc>Gcc	p.T69A	TNFRSF25_ENST00000351959.5_Missense_Mutation_p.T69A|TNFRSF25_ENST00000348333.3_Intron|TNFRSF25_ENST00000377782.3_Missense_Mutation_p.T69A|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000351748.3_Intron	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	69					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|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)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		ACAAGGCAGGTGGAGTTGCCG	0.642																																																	0													59	56	57					1																	6525238		2203	4300	6503	SO:0001583	missense	0			U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"Tumor necrosis factor receptor superfamily"	11910	protein-coding gene	gene with protein product		603366	"tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.205A>G	1.37:g.6525238T>C	ENSP00000349341:p.Thr69Ala		B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.T69A	ENST00000356876.3	37	c.205	CCDS71.1	1	.	.	.	.	.	.	.	.	.	.	t	11.80	1.746227	0.30955	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959	D;D;D	0.94092	-3.35;-3.35;-3.35	5.26	2.76	0.32466	TNFR/CD27/30/40/95 cysteine-rich region (2);	2.205680	0.03175	U	0.171285	D	0.90734	0.7092	L	0.55834	1.745	0.37286	D	0.908031	B;B;B	0.30236	0.274;0.168;0.146	B;B;B	0.33254	0.16;0.069;0.057	T	0.75306	-0.3364	10	0.07990	T	0.79	-3.5884	7.3407	0.26635	0.4376:0.0:0.0:0.5624	.	69;69;69	Q93038-11;Q93038-10;Q93038	.;.;TNR25_HUMAN	A	69	ENSP00000349341:T69A;ENSP00000367013:T69A;ENSP00000337713:T69A	ENSP00000337713:T69A	T	-	1	0	TNFRSF25	6447825	0.062000	0.20869	0.429000	0.26710	0.703000	0.40648	0.066000	0.14489	0.795000	0.33922	0.401000	0.26515	ACC	TNFRSF25	-	smart_TNFR/NGFR_Cys_rich_reg	ENSG00000215788		0.642	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF25	HGNC	protein_coding	OTTHUMT00000002259.1		0	69	0	T	NM_148965		6525238	-1			no_errors	ENST00000377782	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.671	C	C	6525238	T	C	6525238	3	2	183	1	0	0	0	0	1	0	0	0	16343	1696	59	4	1111	4	TNFRSF25	1	6525238	Missense_Mutation	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09		6525238	242725383	1	45463											
TNFRSF8	943	genome.wustl.edu	37	chr1	12164486	12164486	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactcctcccgtgtctgcGaatgtcgacccggcatgttc	6	10	11	14	4	1	0	0	0	1	0	5	3	3	1	3	2	2	2	3	2	2	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:12164486G>T	ENST00000263932.2	+	4	541	c.319G>T	c.(319-321)Gaa>Taa	p.E107*	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	107					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)	CCGTGTCTGCGAATGTCGACC	0.582																																																	0													172	129	144					1																	12164486		2203	4300	6503	SO:0001587	stop_gained	0			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.319G>T	1.37:g.12164486G>T	ENSP00000263932:p.Glu107*		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Nonsense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.E107*	ENST00000263932.2	37	c.319	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	.	19.95	3.922248	0.73213	.	.	ENSG00000120949	ENST00000263932	.	.	.	4.92	0.431	0.16523	.	0.202957	0.33712	N	0.004630	.	.	.	.	.	.	0.28251	N	0.925272	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-12.6194	7.7065	0.28653	0.0944:0.4978:0.4078:0.0	.	.	.	.	X	107	.	ENSP00000263932:E107X	E	+	1	0	TNFRSF8	12087073	0.877000	0.30153	0.195000	0.23364	0.083000	0.17756	0.707000	0.25704	0.297000	0.22615	-0.142000	0.14014	GAA	TNFRSF8	-	pfscan_TNFR/NGFR_Cys_rich_reg	ENSG00000120949		0.582	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	-	0	57	0	G			12164486	1	tier1	-	no_errors	ENST00000263932	ensembl	human	known	74_37	nonsense	28.12	23	9	SNP	0.439	T	T	12164486	G	T	12164486	4	4	183	1	0	0	0	0	0	1	0	0	16346	1059	37	2	333	2	TNFRSF8	1	12164486	Nonsense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	5639248	12164486	237086135	2	45464											
VPS13D	55187	genome.wustl.edu	37	chr1	12336369	12336369	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaccccagaaatgaaaacTtctgacactcagattaaaga	18	7	5	11	0	2	5	1	2	1	3	2	5	2	5	3	0	1	0	3	0	5	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:12336369T>A	ENST00000358136.3	+	19	2854	c.2724T>A	c.(2722-2724)acT>acA	p.T908T	VPS13D_ENST00000356315.4_Silent_p.T908T	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)		AAATGAAAACTTCTGACACTC	0.403											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													44	44	44					1																	12336369		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2724T>A	1.37:g.12336369T>A		679		Silent	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.T908	ENST00000358136.3	37	c.2724	CCDS30588.1	1																																																																																			VPS13D	-	NULL	ENSG00000048707		0.403	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0	28	0	T	NM_015378		12336369	1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.022	A	A	12336369	T	A	12336369	2	1	183	1	0	0	0	0	0	0	0	1	17241	1596	56	5		5	VPS13D	1	12336369	Silent	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	171883	12336369	236914252	3	45465											
EPHA2	1969	genome.wustl.edu	37	chr1	16458592	16458592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctcggggtcgtcctcCagcacgcgggacaggccaaa	7	5	15	14	4	0	0	0	0	0	0	4	1	2	1	4	5	1	1	4	5	1	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:16458592C>T	ENST00000358432.5	-	13	2446	c.2292G>A	c.(2290-2292)ctG>ctA	p.L764L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	764	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)	GGTCGTCCTCCAGCACGCGGG	0.607																																																	0													123	110	114					1																	16458592		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2292G>A	1.37:g.16458592C>T			B5A968|Q8N3Z2	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.L764	ENST00000358432.5	37	c.2292	CCDS169.1	1																																																																																			EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000142627		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1		0	72	0	C	NM_004431		16458592	-1			no_errors	ENST00000358432	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	T	T	16458592	C	T	16458592	2	4	183	1	0	0	0	0	0	0	0	1	5183	581	21	3		3	EPHA2	1	16458592	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	4122223	16458592	232792029	4	45466											
HP1BP3	50809	genome.wustl.edu	37	chr1	21083671	21083671	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctaacctggaatgtcccCgaagcacctttgccagttat	9	12	7	13	1	1	0	0	0	1	0	3	2	2	1	5	1	3	2	5	1	4	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:21083671C>A	ENST00000312239.5	-	9	1108	c.969G>T	c.(967-969)tcG>tcT	p.S323S	HP1BP3_ENST00000375003.2_Silent_p.S171S	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	323	H15 2. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|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;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GGAATGTCCCCGAAGCACCTT	0.438																																																	0													86	85	85					1																	21083671		2203	4300	6503	SO:0001819	synonymous_variant	0			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.969G>T	1.37:g.21083671C>A			A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Silent	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15	p.S323	ENST00000312239.5	37	c.969	CCDS30621.1	1																																																																																			HP1BP3	-	pfam_Histone_H1/H5_H15	ENSG00000127483		0.438	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HP1BP3	HGNC	protein_coding	OTTHUMT00000007457.2	-	0	45	0	C	NM_016287		21083671	-1	tier1	-	no_errors	ENST00000312239	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.308	A	A	21083671	C	A	21083671	2	1	183	1	0	0	0	0	0	0	0	1	7355	639	23	2		2	HP1BP3	1	21083671	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	4625079	21083671	228166950	5	45467											
EPHA8	2046	genome.wustl.edu	37	chr1	22925517	22925517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgggtgctggaggacgacCcggatgctgcctacaccacc	8	5	13	15	3	0	0	0	0	0	0	0	4	0	3	4	4	4	2	4	4	1	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:22925517C>T	ENST00000166244.3	+	13	2437	c.2365C>T	c.(2365-2367)Ccg>Tcg	p.P789S		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAGGACGACCCGGATGCTGC	0.657																																																	0													49	38	42					1																	22925517		2201	4299	6500	SO:0001583	missense	0			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.2365C>T	1.37:g.22925517C>T	ENSP00000166244:p.Pro789Ser		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P789S	ENST00000166244.3	37	c.2365	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834869	0.50951	.	.	ENSG00000070886	ENST00000166244	T	0.81163	-1.46	4.31	2.37	0.29283	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.145290	0.46758	D	0.000265	T	0.61022	0.2314	N	0.03016	-0.435	0.80722	D	1	D	0.69078	0.997	P	0.49561	0.615	T	0.56068	-0.8040	10	0.18276	T	0.48	.	8.57	0.33563	0.0:0.7588:0.1539:0.0873	.	789	P29322	EPHA8_HUMAN	S	789	ENSP00000166244:P789S	ENSP00000166244:P789S	P	+	1	0	EPHA8	22798104	1.000000	0.71417	0.452000	0.26994	0.950000	0.60333	2.590000	0.46154	0.535000	0.28714	0.555000	0.69702	CCG	EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000070886		0.657	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	-	0	34	0	C	NM_020526		22925517	1	tier1	-	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	22925517	C	T	22925517	3	4	183	1	0	0	0	0	1	0	0	0	5189	623	22	3	2588	3	EPHA8	1	22925517	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	1841846	22925517	226325104	6	45468											
CSMD2	114784	genome.wustl.edu	37	chr1	34092092	34092092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtcctccataccttggtAgacaaagtggaagcctctgg	10	10	10	11	0	1	1	0	0	1	1	3	2	3	2	4	3	2	1	4	3	4	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:34092092A>G	ENST00000373380.1	-	12	2129	c.1909T>C	c.(1909-1911)Tac>Cac	p.Y637H	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.Y1764H			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1724	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)				ATACCTTGGTAGACAAAGTGG	0.532																																																	0													57	51	53					1																	34092092		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1909T>C	1.37:g.34092092A>G	ENSP00000362478:p.Tyr637His		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Y1764H	ENST00000373380.1	37	c.5290		1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.988717	0.93106	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.71817	-0.6;-0.6	5.87	5.87	0.94306	CUB (5);	0.000000	0.85682	D	0.000000	D	0.88662	0.6497	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.90991	0.4835	10	0.49607	T	0.09	.	15.4617	0.75363	1.0:0.0:0.0:0.0	.	637;1724;1764	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	1764;637	ENSP00000362479:Y1764H;ENSP00000362478:Y637H	ENSP00000241312:Y1724H	Y	-	1	0	CSMD2	33864679	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.292000	0.96076	2.248000	0.74166	0.533000	0.62120	TAC	CSMD2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000121904		0.532	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	-	0	35	0	A	NM_052896		34092092	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	G	G	34092092	A	G	34092092	3	3	183	1	0	0	0	0	1	0	0	0	3954	420	15	4	5441	4	CSMD2	1	34092092	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	11166575	34092092	215158529	7	45469											
MACF1	23499	genome.wustl.edu	37	chr1	39893127	39893127	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttctatatatttgtgtagGcaaaaacagctggaagacat	14	13	9	5	0	1	1	0	0	1	1	1	2	1	2	0	2	2	4	0	2	7	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:39893127G>T	ENST00000372915.3	+	61	16419	c.16332G>T	c.(16330-16332)agG>agT	p.R5444S	MACF1_ENST00000289893.4_Splice_Site_p.R3879S|MACF1_ENST00000567887.1_Splice_Site_p.R5476S|MACF1_ENST00000539005.1_Splice_Site_p.R3356S|MACF1_ENST00000545844.1_Splice_Site_p.R3377S|MACF1_ENST00000317713.7_Splice_Site_p.R3377S|MACF1_ENST00000361689.2_Splice_Site_p.R3377S|MACF1_ENST00000564288.1_Splice_Site_p.R5439S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5444					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)			ATTTGTGTAGGCAAAAACAGC	0.383																																																	0													89	94	93					1																	39893127		2203	4300	6503	SO:0001630	splice_region_variant	0			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.16332-1G>T	1.37:g.39893127G>T			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R3377S	ENST00000372915.3	37	c.10131		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.273495|4.273495	0.80580|0.80580	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.61274	.|0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.81767|0.81767	0.4892|0.4892	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.997;0.996;0.997	D|D	0.84188|0.84188	0.0443|0.0443	5|9	.|.	.|.	.|.	.|.	19.8304|19.8304	0.96632|0.96632	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5444;3377;3321	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	S|S	2490|3377;5444;3377;3377;3356;3879;193	.|ENSP00000439537:R3377S;ENSP00000362006:R5444S;ENSP00000354573:R3377S;ENSP00000313438:R3377S;ENSP00000444364:R3356S;ENSP00000289893:R3879S;ENSP00000433104:R193S	.|.	A|R	+|+	1|3	0|2	MACF1|MACF1	39665714|39665714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	4.884000|4.884000	0.63135|0.63135	2.692000|2.692000	0.91855|0.91855	0.557000|0.557000	0.71058|0.71058	GCA|AGG	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.383	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	45	0	G	NM_033044	Missense_Mutation	39893127	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	39893127	G	T	39893127	5	4	183	1	0	0	0	0	0	0	1	0	9180	1217	42	3	16508	3	MACF1	1	39893127	Splice_Site	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	5801035	39893127	209357494	8	45470											
RLF	6018	genome.wustl.edu	37	chr1	40702244	40702244	+	Missense_Mutation	SNP	T	T	A	0	1	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	agaaattactgttaaaaggcTctcaaaagggtatttgtcct	14	13	8	6	0	1	1	1	0	1	1	3	1	2	1	1	2	1	3	1	2	7	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:40702244T>A	ENST00000372771.4	+	8	1897	c.1870T>A	c.(1870-1872)Tct>Act	p.S624T		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	624					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)			GTTAAAAGGCTCTCAAAAGGG	0.398																																																	0													55	57	56					1																	40702244		2202	4299	6501	SO:0001583	missense	0				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.1870T>A	1.37:g.40702244T>A	ENSP00000361857:p.Ser624Thr		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S624T	ENST00000372771.4	37	c.1870	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	T	9.174	1.021927	0.19433	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.14266	2.52	6.17	3.86	0.44501	.	0.482992	0.25294	N	0.031710	T	0.06416	0.0165	N	0.14661	0.345	0.23882	N	0.996576	B;B	0.19073	0.033;0.001	B;B	0.13407	0.009;0.004	T	0.26121	-1.0112	10	0.40728	T	0.16	-8.7252	1.355	0.02180	0.1637:0.1227:0.1715:0.5421	.	317;624	F5H2M5;Q13129	.;RLF_HUMAN	T	624;317	ENSP00000361857:S624T	ENSP00000361857:S624T	S	+	1	0	RLF	40474831	0.002000	0.14202	0.997000	0.53966	0.977000	0.68977	0.934000	0.28910	1.117000	0.41842	0.533000	0.62120	TCT	RLF	-	NULL	ENSG00000117000		0.398	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	-	0	37	0	T	NM_012421		40702244	1	tier1	-	no_errors	ENST00000372771	ensembl	human	known	74_37	missense	53.12	15	17	SNP	0.993	A	A	40702244	T	A	40702244	3	1	183	1	0	0	0	0	1	0	0	0	13434	1551	54	5	1900	5	RLF	1	40702244	Missense_Mutation	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	809117	40702244	208548377	9	45471											
CDC20	991	genome.wustl.edu	37	chr1	43827963	43827963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggaagtacccaaccatggCcaaggtggctgaactcaaag	13	7	11	10	0	1	1	1	1	0	0	1	2	1	2	3	4	3	2	3	4	6	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:43827963C>T	ENST00000372462.1	+	9	1504	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	ELOVL1_ENST00000470769.1_5'Flank|CDC20_ENST00000310955.6_Missense_Mutation_p.A434V			Q12834	CDC20_HUMAN	cell division cycle 20	434					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)	p.A434D(1)		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)				ccaaccatggccaaggtggct	0.478																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)												1	Substitution - Missense(1)	ovary(1)											64	56	59					1																	43827963		2203	4300	6503	SO:0001583	missense	0			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.1301C>T	1.37:g.43827963C>T	ENSP00000361540:p.Ala434Val		B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A434V	ENST00000372462.1	37	c.1301	CCDS484.1	1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541663	0.27563	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.28895	1.59;1.59	5.84	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.541973	0.22840	N	0.054986	T	0.17238	0.0414	N	0.16098	0.37	0.47584	D	0.999469	B	0.09022	0.002	B	0.14578	0.011	T	0.06110	-1.0845	10	0.02654	T	1	-4.2979	14.9456	0.71029	0.0:0.9316:0.0:0.0684	.	434	Q12834	CDC20_HUMAN	V	410;434;434	ENSP00000308450:A434V;ENSP00000361540:A434V	ENSP00000308450:A434V	A	+	2	0	CDC20	43600550	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.144000	0.50616	1.478000	0.48253	0.561000	0.74099	GCC	CDC20	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000117399		0.478	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	HGNC	protein_coding	OTTHUMT00000019488.1		0	26	0	C	NM_001255		43827963	1			no_errors	ENST00000310955	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	43827963	C	T	43827963	3	4	183	1	0	0	0	0	1	0	0	0	3066	739	26	3	1335	3	CDC20	1	43827963	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	3125719	43827963	205422658	10	45472											
CCDC18	343099	genome.wustl.edu	37	chr1	93652031	93652031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactaaatttgaatctattCactttgaattaacacagtca	15	15	4	7	0	3	3	2	3	1	0	3	3	3	3	0	0	1	0	0	0	6	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:93652031C>A	ENST00000343253.7	+	4	935	c.433C>A	c.(433-435)Cac>Aac	p.H145N	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.H145N|CCDC18_ENST00000557479.1_Missense_Mutation_p.H263N|CCDC18_ENST00000338949.4_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	145										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)		TGAATCTATTCACTTTGAATT	0.289																																																	0													57	55	56					1																	93652031		1818	4076	5894	SO:0001583	missense	0					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.433C>A	1.37:g.93652031C>A	ENSP00000343377:p.His145Asn		Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.H263N	ENST00000343253.7	37	c.787		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.43|10.43	1.347199|1.347199	0.24426|0.24426	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	5.86|5.86	4.92|4.92	0.64577|0.64577	.|.	.|0.273074	.|0.35525	.|N	.|0.003157	T|T	0.22551|0.22551	0.0544|0.0544	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	.|B	.|0.18013	.|0.025	.|B	.|0.18561	.|0.022	T|T	0.06972|0.06972	-1.0797|-1.0797	5|9	.|0.12103	.|T	.|0.63	.|.	13.0251|13.0251	0.58810|0.58810	0.2838:0.7162:0.0:0.0|0.2838:0.7162:0.0:0.0	.|.	.|263	.|G3V388	.|.	L|N	198|145;145;263	.|.	.|ENSP00000343377:H145N	F|H	+|+	3|1	2|0	CCDC18|CCDC18	93424619|93424619	0.958000|0.958000	0.32768|0.32768	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	2.160000|2.160000	0.42348|0.42348	2.792000|2.792000	0.96026|0.96026	0.644000|0.644000	0.83932|0.83932	TTC|CAC	CCDC18	-	NULL	ENSG00000122483		0.289	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	-	0	32	0	C	NM_206886		93652031	1	tier1	-	no_errors	ENST00000557479	ensembl	human	known	74_37	missense	52.17	11	12	SNP	0.947	A	A	93652031	C	A	93652031	3	1	183	1	0	0	0	0	1	0	0	0	2801	826	29	3	801	3	CCDC18	1	93652031	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	49824068	93652031	155598590	11	45473											
MAGI3	260425	genome.wustl.edu	37	chr1	113933940	113933940	+	Silent	SNP	C	C	T	0	0	0	1	1	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	gctgtcatccgccacttccgCgagcccatccgtctcaagac	7	8	8	18	4	2	1	2	0	1	1	6	2	5	1	5	0	1	1	5	0	1	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:113933940C>T	ENST00000307546.9	+	1	360	c.285C>T	c.(283-285)cgC>cgT	p.R95R	MAGI3_ENST00000369615.1_Silent_p.R95R|MAGI3_ENST00000369617.4_Silent_p.R95R|MAGI3_ENST00000369611.4_Silent_p.R95R|MAGI3_ENST00000486456.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	95	Interaction with ADRB1 and TGFA. {ECO:0000250}.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCACTTCCGCGAGCCCATCC	0.667																																																	0													19	17	18					1																	113933940		2201	4292	6493	SO:0001819	synonymous_variant	0			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.285C>T	1.37:g.113933940C>T			Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.R95	ENST00000307546.9	37	c.285	CCDS44196.1	1																																																																																			MAGI3	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000081026		0.667	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	-	0	107	0	C	NM_152900		113933940	1	tier1	-	no_errors	ENST00000369611	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.982	T	T	113933940	C	T	113933940	2	4	183	1	0	0	0	0	0	0	0	1	9230	755	27	1		1	MAGI3	1	113933940	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	20281909	113933940	135316681	12	45474											
MTMR11	10903	genome.wustl.edu	37	chr1	149904175	149904175	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacatagtccagccatcGtgttccttccagggctgaaa	9	10	9	13	1	0	2	0	2	0	0	4	2	3	2	5	1	1	2	5	1	2	3	rs150224850		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:149904175G>A	ENST00000439741.2	-	11	1283	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Nonsense_Mutation_p.R273*|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Nonsense_Mutation_p.R317*	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	345	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCCAGCCATCGTGTTCCTTCC	0.448																																																	0								G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	193	183	186		1033,817	4.3	1	1	dbSNP_134	186	0,8600		0,0,4300	no	stop-gained,stop-gained	MTMR11	NM_001145862.1,NM_181873.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	345/710,273/641	149904175	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1033C>T	1.37:g.149904175G>A	ENSP00000391668:p.Arg345*		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Nonsense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom	p.R345*	ENST00000439741.2	37	c.1033	CCDS53360.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.531166	0.98342	2.27E-4	0.0	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	.	.	.	5.28	4.31	0.51392	.	0.144797	0.47852	D	0.000213	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1215	0.72447	0.0:0.0:0.8492:0.1508	.	.	.	.	X	273;345;317;187	.	ENSP00000358136:R273X	R	-	1	2	MTMR11	148170799	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.992000	0.70609	2.746000	0.94184	0.655000	0.94253	CGA	MTMR11	-	NULL	ENSG00000014914		0.448	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding			0	21	0	G	NM_181873		149904175	-1			no_errors	ENST00000439741	ensembl	human	known	74_37	nonsense	8.00	23	2	SNP	1.000	A	A	149904175	G	A	149904175	4	1	183	1	0	0	0	0	0	1	0	0	9978	1153	40	1	1163	1	MTMR11	1	149904175	Nonsense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	35970235	149904175	99346446	13	45475											
AQP10	89872	genome.wustl.edu	37	chr1	154296217	154296217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aactgcgggattccactcaaCcctgcccgggacctgggccc	7	6	11	17	2	1	0	1	0	0	0	2	2	2	2	5	3	4	0	5	3	2	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:154296217C>T	ENST00000324978.3	+	5	682	c.642C>T	c.(640-642)aaC>aaT	p.N214N	AQP10_ENST00000484864.1_Silent_p.N214N|ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	214					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)			TTCCACTCAACCCTGCCCGGG	0.637																																																	0													77	77	77					1																	154296217		2203	4300	6503	SO:0001819	synonymous_variant	0			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.642C>T	1.37:g.154296217C>T			Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP	p.N214	ENST00000324978.3	37	c.642	CCDS1065.1	1																																																																																			AQP10	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	ENSG00000143595		0.637	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	-	0	57	0	C	NM_080429		154296217	1	tier1	-	no_errors	ENST00000324978	ensembl	human	known	74_37	silent	26.83	30	11	SNP	1.000	T	T	154296217	C	T	154296217	2	4	183	1	0	0	0	0	0	0	0	1	822	506	18	3		3	AQP10	1	154296217	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	4392042	154296217	94954404	14	45476											
INSRR	3645	genome.wustl.edu	37	chr1	156819062	156819062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcggtctccgttggtgcGggggttgatctcagccttgt	2	12	17	10	4	2	1	1	1	2	0	4	1	2	1	2	5	2	2	2	5	0	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:156819062G>A	ENST00000368195.3	-	6	1816	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	474					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)	p.R474C(1)		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)					CCGTTGGTGCGGGGGTTGATC	0.647																																																	1	Substitution - Missense(1)	breast(1)											99	100	100					1																	156819062		2203	4300	6503	SO:0001583	missense	0			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.1420C>T	1.37:g.156819062G>A	ENSP00000357178:p.Arg474Cys		O60724|Q5VZS3	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.R474C	ENST00000368195.3	37	c.1420	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340642	0.81911	.	.	ENSG00000027644	ENST00000368195	D	0.83075	-1.68	4.75	4.75	0.60458	.	0.000000	0.47852	D	0.000213	D	0.90038	0.6889	.	.	.	0.50813	D	0.999896	D	0.89917	1.0	D	0.91635	0.999	D	0.91134	0.4940	9	0.72032	D	0.01	.	16.4887	0.84193	0.0:0.0:1.0:0.0	.	474	P14616	INSRR_HUMAN	C	474	ENSP00000357178:R474C	ENSP00000357178:R474C	R	-	1	0	INSRR	155085686	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.136000	0.50554	2.490000	0.84030	0.561000	0.74099	CGC	INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt	ENSG00000027644		0.647	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1		0	65	0	G	NM_014215		156819062	-1			no_errors	ENST00000368195	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.970	A	A	156819062	G	A	156819062	3	1	183	1	0	0	0	0	1	0	0	0	7801	1116	39	1	2540	1	INSRR	1	156819062	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	2522845	156819062	92431559	15	45477											
CD1A	909	genome.wustl.edu	37	chr1	158225836	158225836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggctgtgagctgcactCtggaaaggtctcaggaagct	10	8	15	8	0	2	1	1	1	2	0	3	4	2	4	0	5	3	4	0	5	2	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:158225836C>A	ENST00000289429.5	+	3	901	c.368C>A	c.(367-369)tCt>tAt	p.S123Y		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	123					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)	GAGCTGCACTCTGGAAAGGTC	0.423																																																	0													84	80	81					1																	158225836		2203	4300	6503	SO:0001583	missense	0			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.368C>A	1.37:g.158225836C>A	ENSP00000289429:p.Ser123Tyr		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S123Y	ENST00000289429.5	37	c.368	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	C	3.257	-0.152062	0.06585	.	.	ENSG00000158477	ENST00000289429	T	0.07688	3.17	4.35	2.09	0.27110	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.857580	0.02873	N	0.131895	T	0.10723	0.0262	M	0.79805	2.47	0.09310	N	1	P	0.49253	0.921	P	0.55345	0.774	T	0.11227	-1.0596	10	0.29301	T	0.29	6.0E-4	6.2727	0.20963	0.0:0.7152:0.0:0.2848	.	123	P06126	CD1A_HUMAN	Y	123	ENSP00000289429:S123Y	ENSP00000289429:S123Y	S	+	2	0	CD1A	156492460	0.000000	0.05858	0.206000	0.23566	0.008000	0.06430	0.012000	0.13287	0.794000	0.33899	0.579000	0.79373	TCT	CD1A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000158477		0.423	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2		0	48	0	C	NM_001763		158225836	1			no_errors	ENST00000289429	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.007	A	A	158225836	C	A	158225836	3	1	183	1	0	0	0	0	1	0	0	0	2981	913	32	3	378	3	CD1A	1	158225836	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	1406774	158225836	91024785	16	45478											
OR6Y1	391112	genome.wustl.edu	37	chr1	158517456	158517456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcatcctccagccagtgtgCcacagagctggttggtcatg	8	9	12	12	0	1	1	1	0	0	1	3	1	3	1	4	2	4	3	4	2	0	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:158517456C>A	ENST00000302617.3	-	1	439	c.440G>T	c.(439-441)gGc>gTc	p.G147V		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G147A(1)		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)					AGCCAGTGTGCCACAGAGCTG	0.473																																																	1	Substitution - Missense(1)	lung(1)											67	58	61					1																	158517456		2203	4300	6503	SO:0001583	missense	0			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.440G>T	1.37:g.158517456C>A	ENSP00000304807:p.Gly147Val		Q6IFS0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G147V	ENST00000302617.3	37	c.440	CCDS30899.1	1	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.160568	0.01686	.	.	ENSG00000197532	ENST00000302617	T	0.35048	1.33	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.159452	0.29410	N	0.012223	T	0.04182	0.0116	N	0.01446	-0.86	0.20074	N	0.999933	B	0.29212	0.237	B	0.27170	0.077	T	0.24977	-1.0145	10	0.06757	T	0.87	.	12.2129	0.54389	0.0:0.7183:0.2817:0.0	.	147	Q8NGX8	OR6Y1_HUMAN	V	147	ENSP00000304807:G147V	ENSP00000304807:G147V	G	-	2	0	OR6Y1	156784080	0.000000	0.05858	0.692000	0.30179	0.875000	0.50365	0.305000	0.19254	2.653000	0.90120	0.563000	0.77884	GGC	OR6Y1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197532		0.473	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Y1	HGNC	protein_coding	OTTHUMT00000051844.1	-	0	45	0	C	NM_001005189		158517456	-1	tier1	-	no_errors	ENST00000302617	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.002	A	A	158517456	C	A	158517456	3	1	183	1	0	0	0	0	1	0	0	0	11252	739	26	3	539	3	OR6Y1	1	158517456	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	291620	158517456	90733165	17	45479											
SPTA1	6708	genome.wustl.edu	37	chr1	158612690	158612690	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctcctcaaggtctcGgtagaattgttttaggttgg	7	15	11	8	1	2	1	1	0	1	1	5	1	4	1	2	4	1	4	2	4	4	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:158612690G>A	ENST00000368147.4	-	32	4699	c.4519C>T	c.(4519-4521)Cga>Tga	p.R1507*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1507					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)					TCAAGGTCTCGGTAGAATTGT	0.473																																																	0													161	151	154					1																	158612690		1991	4169	6160	SO:0001587	stop_gained	0			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.4519C>T	1.37:g.158612690G>A	ENSP00000357129:p.Arg1507*		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R1507*	ENST00000368147.4	37	c.4519	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	43	9.829504	0.99273	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.2	3.34	0.38264	.	1.168590	0.06719	N	0.774558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0537	0.19799	0.1589:0.0:0.6915:0.1497	.	.	.	.	X	1507	.	ENSP00000357129:R1507X	R	-	1	2	SPTA1	156879314	1.000000	0.71417	0.402000	0.26371	0.269000	0.26545	2.522000	0.45572	0.786000	0.33708	0.655000	0.94253	CGA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	40	0	G	NM_003126		158612690	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	0.395	A	A	158612690	G	A	158612690	4	1	183	1	0	0	0	0	0	1	0	0	15163	1124	39	1	2824	1	SPTA1	1	158612690	Nonsense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	95234	158612690	90637931	18	45480											
SPTA1	6708	genome.wustl.edu	37	chr1	158637726	158637727	+	Frame_Shift_Ins	INS	-	-	A																															gtggtcacattgtcagaggcINSatagtgaccaccctcaatca																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:158637726_158637727insA	ENST00000368147.4	-	15	2139_2140	c.1959_1960insT	c.(1957-1962)tatgccfs	p.A654fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	654					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)					TTGTCAGAGGCATAGTGACCAC	0.46																																																	0																																										SO:0001589	frameshift_variant	0			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.1960dupT	1.37:g.158637727_158637727dupA	ENSP00000357129:p.Ala654fs		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Ins	INS	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.A653fs	ENST00000368147.4	37	c.1960_1959	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.46	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0	55	0	-	NM_003126		158637727	-1	tier1		no_errors	ENST00000368147	ensembl	human	known	74_37	frame_shift_ins	24.56	43	14	INS	1.000:0.526	A	A	158637727	-	A	158637726	7	5	183	1	0	1	1	0	0	0	0	0	15163	710	25	0	5451	0	SPTA1	1	158637726	Frame_Shift_Ins	INS	-	TCGA-Z6-A9VB-01A-21D-A37C-09	25036	158637726	90612895	19	45481											
PBX1	5087	genome.wustl.edu	37	chr1	164529123	164529123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggccggacaccccggcCtgtcccagcacttgcaggat	7	6	13	15	2	0	0	0	0	0	0	1	3	1	3	5	5	2	2	5	5	0	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:164529123C>A	ENST00000420696.2	+	1	252	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	PBX1_ENST00000559240.1_Missense_Mutation_p.L22M|PBX1_ENST00000540236.1_Missense_Mutation_p.L22M|PBX1_ENST00000401534.1_Missense_Mutation_p.L22M|PBX1_ENST00000485769.1_Missense_Mutation_p.L22M|PBX1_ENST00000367897.1_Missense_Mutation_p.L22M	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	22					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						ACACCCCGGCCTGTCCCAGCA	0.622			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																			Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"L, M"	0													10	11	11					1																	164529123		2058	3995	6053	SO:0001583	missense	0			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.64C>A	1.37:g.164529123C>A	ENSP00000405890:p.Leu22Met		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L22M	ENST00000420696.2	37	c.64	CCDS1246.1	1	.	.	.	.	.	.	.	.	.	.	C	2.422	-0.332967	0.05278	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534	T;D;D;D;D	0.87412	0.95;-2.24;-2.14;-2.25;-2.14	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000010	T	0.65502	0.2697	N	0.16743	0.435	0.09310	N	1.0	B;B;B	0.25772	0.134;0.006;0.036	B;B;B	0.15052	0.012;0.005;0.009	T	0.64664	-0.6354	9	0.12766	T	0.61	-7.6375	17.4667	0.87634	0.0:1.0:0.0:0.0	.	22;22;22	F5H4U9;P40424;Q53YC7	.;PBX1_HUMAN;.	M	22	ENSP00000341455:L22M;ENSP00000405890:L22M;ENSP00000356872:L22M;ENSP00000439943:L22M;ENSP00000384856:L22M	ENSP00000341455:L22M	L	+	1	2	PBX1	162795747	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	2.539000	0.45718	2.409000	0.81822	0.561000	0.74099	CTG	PBX1	-	NULL	ENSG00000185630		0.622	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	-	0	129	0	C	NM_002585		164529123	1	tier1	-	no_errors	ENST00000420696	ensembl	human	known	74_37	missense	12.50	56	8	SNP	1.000	A	A	164529123	C	A	164529123	3	1	183	1	0	0	0	0	1	0	0	0	11531	680	24	3	66	3	PBX1	1	164529123	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	5891397	164529123	84721498	20	45482											
ATP1B1	481	genome.wustl.edu	37	chr1	169094267	169094267	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggatgacatgatttttgaAgattgtggcggtaagtagac	12	12	14	3	1	0	5	0	3	0	2	0	6	0	6	0	3	0	2	0	3	3	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:169094267A>G	ENST00000367816.1	+	4	901	c.372A>G	c.(370-372)gaA>gaG	p.E124E	ATP1B1_ENST00000367815.4_Silent_p.E124E|ATP1B1_ENST00000499679.3_Silent_p.E68E|ATP1B1_ENST00000367813.3_Silent_p.E116E			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	124					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)					TGATTTTTGAAGATTGTGGCG	0.383																																																	0													166	162	163					1																	169094267		2203	4300	6503	SO:0001819	synonymous_variant	0			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.372A>G	1.37:g.169094267A>G			Q5TGZ3	Silent	SNP	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	p.E124	ENST00000367816.1	37	c.372	CCDS1276.1	1																																																																																			ATP1B1	-	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	ENSG00000143153		0.383	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP1B1	HGNC	protein_coding	OTTHUMT00000083696.1	-	0	53	0	A			169094267	1	tier1	-	no_errors	ENST00000367815	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	G	G	169094267	A	G	169094267	2	3	183	1	0	0	0	0	0	0	0	1	1133	69	3	4		4	ATP1B1	1	169094267	Silent	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	4565144	169094267	80156354	21	45483											
TNFSF4	7292	genome.wustl.edu	37	chr1	173157682	173157682	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaattgtactttgatactTtgaattcgaggataccgatg	12	15	9	5	2	0	2	0	2	0	0	1	5	0	3	1	1	3	2	1	1	6	8			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:173157682T>A	ENST00000281834.3	-	2	316	c.180A>T	c.(178-180)caA>caT	p.Q60H	TNFSF4_ENST00000488053.1_5'UTR|TNFSF4_ENST00000367718.1_Missense_Mutation_p.Q10H	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	60					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|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-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CTTTGATACTTTGAATTCGAG	0.313																																																	0													82	93	89					1																	173157682		2203	4299	6502	SO:0001583	missense	0			D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11934	protein-coding gene	gene with protein product		603594	"tax-transcriptionally activated glycoprotein 1, 34kD"	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.180A>T	1.37:g.173157682T>A	ENSP00000281834:p.Gln60His		Q5JZA5|Q8IV74|Q9HCN9	Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom	p.Q60H	ENST00000281834.3	37	c.180	CCDS1306.1	1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602766	0.46423	.	.	ENSG00000117586	ENST00000367718;ENST00000281834;ENST00000545292	.	.	.	4.87	-0.44	0.12261	Tumour necrosis factor (1);Tumour necrosis factor-like (1);	0.450854	0.20879	N	0.084037	T	0.08223	0.0205	L	0.50333	1.59	0.29078	N	0.882898	P;P	0.43750	0.509;0.816	B;B	0.29942	0.066;0.109	T	0.18967	-1.0320	9	0.34782	T	0.22	-4.17	4.1387	0.10183	0.0:0.1921:0.3545:0.4533	.	60;10	P23510;Q8IV74	TNFL4_HUMAN;.	H	10;60;10	.	ENSP00000281834:Q60H	Q	-	3	2	TNFSF4	171424305	0.996000	0.38824	0.991000	0.47740	0.629000	0.37895	-0.074000	0.11450	0.098000	0.17522	0.533000	0.62120	CAA	TNFSF4	-	superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom	ENSG00000117586		0.313	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF4	HGNC	protein_coding	OTTHUMT00000084271.1	-	0	48	0	T			173157682	-1	tier1	-	no_errors	ENST00000281834	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.936	A	A	173157682	T	A	173157682	3	1	183	1	0	0	0	0	1	0	0	0	16357	1838	64	5	379	5	TNFSF4	1	173157682	Missense_Mutation	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	4063415	173157682	76092939	22	45484											
TNN	63923	genome.wustl.edu	37	chr1	175086207	175086207	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaggacggagagaccaGggaggttccggtggggaagg	10	4	20	7	2	0	1	0	0	0	1	1	6	1	5	3	8	1	1	3	8	2	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:175086207G>C	ENST00000239462.4	+	10	2365	c.2252G>C	c.(2251-2253)aGg>aCg	p.R751T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	751	Fibronectin type-III 6. {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)		GGAGAGACCAGGGAGGTTCCG	0.647																																																	0													90	85	86					1																	175086207		2203	4300	6503	SO:0001583	missense	0			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.2252G>C	1.37:g.175086207G>C	ENSP00000239462:p.Arg751Thr		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.R751T	ENST00000239462.4	37	c.2252	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	G	8.219	0.802086	0.16397	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.56776	0.44	5.37	-4.73	0.03259	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.156080	0.06052	N	0.656761	T	0.55162	0.1903	L	0.50993	1.605	0.09310	N	1	P	0.35575	0.51	P	0.45913	0.497	T	0.57254	-0.7843	10	0.28530	T	0.3	.	14.7625	0.69617	0.7944:0.0:0.2056:0.0	.	751	Q9UQP3	TENN_HUMAN	T	751;574	ENSP00000239462:R751T	ENSP00000239462:R751T	R	+	2	0	TNN	173352830	0.001000	0.12720	0.007000	0.13788	0.148000	0.21650	-0.157000	0.10085	-0.854000	0.04131	-0.302000	0.09304	AGG	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.647	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1		0	82	0	G	XM_040527		175086207	1			no_errors	ENST00000239462	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.008	C	C	175086207	G	C	175086207	3	2	183	1	0	0	0	0	1	0	0	0	16370	1000	35	5	2286	5	TNN	1	175086207	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	1928525	175086207	74164414	23	45485											
FAM20B	9917	genome.wustl.edu	37	chr1	179019499	179019499	+	Splice_Site	SNP	A	A	C	1	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	tagcagcctttcacttggacAggtgcgtatgatcacagcag	10	10	11	10	1	2	1	2	1	0	0	2	2	2	2	1	2	4	3	1	2	2	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:179019499A>C	ENST00000263733.4	+	3	799	c.463A>C	c.(463-465)Agg>Cgg	p.R155R		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	155						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						TCACTTGGACAGGTGCGTATG	0.453																																																	0													202	163	176					1																	179019499		2203	4300	6503	SO:0001630	splice_region_variant	0			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"glycosaminoglycan xylosylkinase"	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.464+1A>C	1.37:g.179019499A>C			Q5W0C3|Q5W0C4	Silent	SNP	pfam_DUF1193	p.R155	ENST00000263733.4	37	c.463	CCDS1328.1	1																																																																																			FAM20B	-	NULL	ENSG00000116199		0.453	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20B	HGNC	protein_coding	OTTHUMT00000084922.1	-	0	81	0	A	NM_014864	Silent	179019499	1	tier1	-	no_errors	ENST00000263733	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	C	C	179019499	A	C	179019499	5	2	183	1	0	0	0	0	0	0	1	0	5557	202	7	4	469	4	FAM20B	1	179019499	Splice_Site	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	3933292	179019499	70231122	24	45486											
LHX4	89884	genome.wustl.edu	37	chr1	180243502	180243502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcctccatatcgtccctgCcatcccacgctcctttgctc	5	12	4	20	2	0	0	0	0	0	0	7	0	5	0	6	0	2	2	6	0	1	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:180243502C>T	ENST00000263726.2	+	6	1205	c.961C>T	c.(961-963)Cca>Tca	p.P321S	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	321					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						ATCGTCCCTGCCATCCCACGC	0.567																																																	0													209	183	192					1																	180243502		2203	4300	6503	SO:0001583	missense	0			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.961C>T	1.37:g.180243502C>T	ENSP00000263726:p.Pro321Ser		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.P321S	ENST00000263726.2	37	c.961	CCDS1338.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283120	0.80803	.	.	ENSG00000121454	ENST00000263726	D	0.89681	-2.55	5.68	5.68	0.88126	.	0.056854	0.64402	D	0.000001	D	0.89322	0.6682	M	0.68317	2.08	0.80722	D	1	B	0.31193	0.312	B	0.34093	0.175	D	0.88162	0.2858	10	0.59425	D	0.04	.	18.5603	0.91097	0.0:1.0:0.0:0.0	.	321	Q969G2	LHX4_HUMAN	S	321	ENSP00000263726:P321S	ENSP00000263726:P321S	P	+	1	0	LHX4	178510125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.345000	0.79337	2.662000	0.90505	0.655000	0.94253	CCA	LHX4	-	NULL	ENSG00000121454		0.567	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX4	HGNC	protein_coding	OTTHUMT00000084995.2	-	0	68	0	C	NM_033343		180243502	1	tier1	-	no_errors	ENST00000263726	ensembl	human	known	74_37	missense	8.62	53	5	SNP	1.000	T	T	180243502	C	T	180243502	3	4	183	1	0	0	0	0	1	0	0	0	8802	739	26	3	983	3	LHX4	1	180243502	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	1224003	180243502	69007119	25	45487											
CRB1	23418	genome.wustl.edu	37	chr1	197396689	197396689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctccatgtttgtccgaaCgcttcaaccatcaggcttac	8	12	6	15	2	3	0	2	0	1	0	5	1	4	0	4	1	3	3	4	1	3	3	rs28939720		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:197396689C>T	ENST00000367400.3	+	7	2369	c.2234C>T	c.(2233-2235)aCg>aTg	p.T745M	CRB1_ENST00000535699.1_Missense_Mutation_p.T676M|CRB1_ENST00000367397.1_Missense_Mutation_p.T126M|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.T226M|CRB1_ENST00000367399.2_Missense_Mutation_p.T633M	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	745	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		T -> M (in RP12 and LCA8; dbSNP:rs28939720). {ECO:0000269|PubMed:10508521, ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:15459956, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:20591486, ECO:0000269|PubMed:20956273, ECO:0000269|PubMed:22334370}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T745M(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTTGTCCGAACGCTTCAACCA	0.483																																																	2	Substitution - Missense(2)	large_intestine(2)	GRCh37	CM992150	CRB1	M	rs28939720	C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	84	75	78	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1898,2234	4.8	0.2	1	dbSNP_125	78	0,8600		0,0,4300	no	missense,missense	CRB1	NM_001193640.1,NM_201253.2	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	633/1295,745/1407	197396689	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2234C>T	1.37:g.197396689C>T	ENSP00000356370:p.Thr745Met		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.T745M	ENST00000367400.3	37	c.2234	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723780	0.48728	2.27E-4	0.0	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55	5.75	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.95004	0.8383	M	0.88906	2.99	0.80722	A	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.986;0.999	D	0.95323	0.8422	8	0.54805	T	0.06	.	14.531	0.67926	0.0:0.9302:0.0:0.0698	rs28939720	676;633;394;745	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	M	676;745;633;226;126;394	ENSP00000438786:T676M;ENSP00000356370:T745M;ENSP00000356369:T633M;ENSP00000444556:T226M;ENSP00000356367:T126M	ENSP00000356367:T126M	T	+	2	0	CRB1	195663312	1.000000	0.71417	0.222000	0.23844	0.022000	0.10575	5.591000	0.67536	1.425000	0.47237	0.650000	0.86243	ACG	CRB1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000134376		0.483	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	0	39	0	C	NM_201253		197396689	1	tier1	rs28939720	no_errors	ENST00000367400	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.999	T	T	197396689	C	T	197396689	3	4	183	1	0	0	0	0	1	0	0	0	3855	536	19	1	2260	1	CRB1	1	197396689	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	17153187	197396689	51853932	26	45488											
GPR37L1	9283	genome.wustl.edu	37	chr1	202097550	202097550	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgctgctgctgctgtgagGagtgcggcggggcttcggag	3	9	20	9	3	0	1	0	1	0	0	1	3	0	3	0	5	5	6	0	5	0	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:202097550G>T	ENST00000367282.5	+	2	1418	c.1312G>T	c.(1312-1314)Gag>Tag	p.E438*		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	438	Cys-rich.				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						ctgctgTGAGGAGTGCGGCGG	0.627																																																	0													35	37	36					1																	202097550		2203	4300	6503	SO:0001587	stop_gained	0			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.1312G>T	1.37:g.202097550G>T	ENSP00000356251:p.Glu438*		B2R7M9|Q5SXP7|Q86VP7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.E438*	ENST00000367282.5	37	c.1312	CCDS1420.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356460	0.82243	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	.	.	.	5.18	4.24	0.50183	.	0.526148	0.14602	N	0.309573	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-4.4493	15.0148	0.71576	0.0:0.1766:0.8234:0.0	.	.	.	.	X	305;438	.	ENSP00000356251:E438X	E	+	1	0	GPR37L1	200364173	1.000000	0.71417	0.036000	0.18154	0.373000	0.29922	2.573000	0.46007	1.090000	0.41315	0.561000	0.74099	GAG	GPR37L1	-	NULL	ENSG00000170075		0.627	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37L1	HGNC	protein_coding	OTTHUMT00000087496.2	-	0	55	0	G	NM_004767		202097550	1	tier1	-	no_errors	ENST00000367282	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	0.554	T	T	202097550	G	T	202097550	4	4	183	1	0	0	0	0	0	1	0	0	6718	1175	41	3	1318	3	GPR37L1	1	202097550	Nonsense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	4700861	202097550	47153071	27	45489											
KCNH1	3756	genome.wustl.edu	37	chr1	210857068	210857068	+	Missense_Mutation	SNP	T	T	A	0	1	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	cctcactcttcccgcaagcaTctttgaagcgggcccagctt	7	10	8	16	2	3	1	1	1	2	0	4	1	4	1	3	1	3	3	3	1	2	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:210857068T>A	ENST00000271751.4	-	11	2552	c.2525A>T	c.(2524-2526)gAt>gTt	p.D842V	KCNH1_ENST00000367007.4_Missense_Mutation_p.D815V			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	842					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)		CCCGCAAGCATCTTTGAAGCG	0.622																																																	0													71	74	73					1																	210857068		2203	4300	6503	SO:0001583	missense	0			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.2525A>T	1.37:g.210857068T>A	ENSP00000271751:p.Asp842Val		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.D842V	ENST00000271751.4	37	c.2525	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.355539	0.41700	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98968	-5.23;-5.28	4.66	4.66	0.58398	.	0.098661	0.64402	D	0.000002	D	0.97034	0.9031	L	0.54323	1.7	0.58432	D	0.999998	B;B	0.19935	0.012;0.04	B;B	0.20767	0.031;0.017	D	0.95982	0.8978	10	0.36615	T	0.2	.	14.1189	0.65175	0.0:0.0:0.0:1.0	.	815;842	Q14CL3;O95259	.;KCNH1_HUMAN	V	842;815	ENSP00000271751:D842V;ENSP00000355974:D815V	ENSP00000271751:D842V	D	-	2	0	KCNH1	208923691	1.000000	0.71417	0.806000	0.32338	0.816000	0.46133	3.978000	0.56881	1.746000	0.51805	0.459000	0.35465	GAT	KCNH1	-	NULL	ENSG00000143473		0.622	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	-	0	36	0	T	NM_002238		210857068	-1	tier1	-	no_errors	ENST00000271751	ensembl	human	known	74_37	missense	46.15	14	12	SNP	1.000	A	A	210857068	T	A	210857068	3	1	183	1	0	0	0	0	1	0	0	0	8058	1435	50	5	448	5	KCNH1	1	210857068	Missense_Mutation	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	8759518	210857068	38393553	28	45490											
OR14C36	127066	genome.wustl.edu	37	chr1	248512782	248512782	+	Frame_Shift_Del	DEL	T	T	-																															gagcagacagaacaaaggccTtttccacctgcatccctcac																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:248512782delT	ENST00000317861.1	+	1	706	c.706delT	c.(706-708)tttfs	p.F236fs		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	236						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						AACAAAGGCCTTTTCCACCTG	0.532																																																	0													214	147	170					1																	248512782		2203	4300	6503	SO:0001589	frameshift_variant	0			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.706delT	1.37:g.248512782delT	ENSP00000324534:p.Phe236fs		Q6IEZ6	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S237fs	ENST00000317861.1	37	c.706	CCDS31112.1	1																																																																																			OR14C36	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000177174		0.532	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1		0	19	0	T	NM_001001918		248512782	1	tier1		no_errors	ENST00000317861	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	0.998	-	-	248512782	T	-	248512782	7	5	183	1	0	1	0	1	0	0	0	0	10985	1609	56	0	708	0	OR14C36	1	248512782	Frame_Shift_Del	DEL	T	TCGA-Z6-A9VB-01A-21D-A37C-09	37655714	248512782	737839	29	45491											
OR2T6	254879	genome.wustl.edu	37	chr1	248551111	248551111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcagccacctctccGtcattgacacattatacatc	9	12	3	17	1	3	1	2	1	1	0	7	1	5	1	5	0	2	0	5	0	2	3	rs182818153		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr1:248551111G>A	ENST00000355728.2	+	1	202	c.202G>A	c.(202-204)Gtc>Atc	p.V68I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACCTCTCCGTCATTGACAC	0.498																																																	0													207	160	176					1																	248551111		2203	4300	6503	SO:0001583	missense	0			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.202G>A	1.37:g.248551111G>A	ENSP00000347965:p.Val68Ile		A6NE36	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V68I	ENST00000355728.2	37	c.202	CCDS31114.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.609	-0.825809	0.02734	.	.	ENSG00000198104	ENST00000355728	T	0.00551	6.65	4.38	-8.75	0.00834	GPCR, rhodopsin-like superfamily (1);	0.807607	0.10778	N	0.635167	T	0.00300	0.0009	N	0.11927	0.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42816	-0.9429	10	0.38643	T	0.18	.	7.4264	0.27102	0.0849:0.4788:0.2599:0.1764	.	68	Q8NHC8	OR2T6_HUMAN	I	68	ENSP00000347965:V68I	ENSP00000347965:V68I	V	+	1	0	OR2T6	246617734	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.413000	0.02473	-3.461000	0.00159	-2.248000	0.00284	GTC	OR2T6	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198104		0.498	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1		0	42	0	G	NM_001005471		248551111	1			no_errors	ENST00000355728	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.000	A	A	248551111	G	A	248551111	3	1	183	1	0	0	0	0	1	0	0	0	11068	1145	40	1	204	1	OR2T6	1	248551111	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	38329	248551111	699510	30	45492											
SNTG2	54221	genome.wustl.edu	37	chr2	1093924	1093924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacagccagttggcggcttgGgcctgagtataaaggtatgg	9	9	16	7	1	0	1	0	1	0	0	0	2	0	1	2	5	1	4	2	5	4	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:1093924G>T	ENST00000308624.5	+	3	382	c.253G>T	c.(253-255)Ggc>Tgc	p.G85C	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	85	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGGCGGCTTGGGCCTGAGTAT	0.383																																																	0													242	246	244					2																	1093924		1847	4094	5941	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.253G>T	2.37:g.1093924G>T	ENSP00000311837:p.Gly85Cys		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G85C	ENST00000308624.5	37	c.253	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092861	0.56075	.	.	ENSG00000172554	ENST00000308624	D	0.90324	-2.65	4.68	4.68	0.58851	PDZ/DHR/GLGF (4);	0.053112	0.85682	D	0.000000	D	0.97247	0.9100	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98686	1.0694	10	0.66056	D	0.02	.	15.3884	0.74723	0.0:0.0:1.0:0.0	.	85	Q9NY99	SNTG2_HUMAN	C	85	ENSP00000311837:G85C	ENSP00000311837:G85C	G	+	1	0	SNTG2	1083924	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.431000	0.80335	2.121000	0.65114	0.563000	0.77884	GGC	SNTG2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000172554		0.383	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0	37	0	G	NM_018968		1093924	1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	1093924	G	T	1093924	3	4	183	1	0	0	0	0	1	0	0	0	14920	1232	43	3	263	3	SNTG2	2	1093924	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		1093924	242105449	31	45493											
QPCT	25797	genome.wustl.edu	37	chr2	37594505	37594505	+	Frame_Shift_Del	DEL	C	C	-																															agctgcaaagatggcatcgaCcccgcacccacctggagcga																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:37594505delC	ENST00000338415.3	+	4	835	c.677delC	c.(676-678)accfs	p.T226fs	QPCT_ENST00000537448.1_Frame_Shift_Del_p.T177fs	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	226					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ATGGCATCGACCCCGCACCCA	0.532																																																	0													81	76	78					2																	37594505		2203	4300	6503	SO:0001589	frameshift_variant	0			X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"glutaminyl cyclase"	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.677delC	2.37:g.37594505delC	ENSP00000344829:p.Thr226fs		Q16770|Q3KRG6|Q53TR4	Frame_Shift_Del	DEL	pfam_Peptidase_M28	p.P227fs	ENST00000338415.3	37	c.677	CCDS1790.1	2																																																																																			QPCT	-	pfam_Peptidase_M28	ENSG00000115828		0.532	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCT	HGNC	protein_coding	OTTHUMT00000218572.2		0	24	0	C			37594505	1	tier1		no_errors	ENST00000338415	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	0.638	-	-	37594505	C	-	37594505	7	5	183	1	0	1	0	1	0	0	0	0	12919	507	18	0	691	0	QPCT	2	37594505	Frame_Shift_Del	DEL	C	TCGA-Z6-A9VB-01A-21D-A37C-09	36500581	37594505	205604868	32	45494											
MSH6	2956	genome.wustl.edu	37	chr2	48026991	48026991	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggaaggtctgataccCggctcccagttttgggatgc	7	11	12	11	1	2	1	1	1	1	0	3	3	3	3	2	4	2	2	2	4	2	4	rs141242295	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:48026991C>T	ENST00000234420.5	+	4	2021	c.1869C>T	c.(1867-1869)ccC>ccT	p.P623P	MSH6_ENST00000540021.1_Silent_p.P493P|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Silent_p.P321P	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	623			P -> A (in dbSNP:rs3136334). {ECO:0000269|Ref.4}.|P -> L (no impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity). {ECO:0000269|PubMed:15354210}.		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)			GTCTGATACCCGGCTCCCAGT	0.408			"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|||	10	0.00199681	0.0076	0	5008	,	,		19744	0		0	False		,,,				2504	0						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		11,4395	15.5+/-35.6	1,9,2193	61	65	64		1869	-1.5	1	2	dbSNP_134	64	0,8598		0,0,4299	no	coding-synonymous	MSH6	NM_000179.2		1,9,6492	TT,TC,CC		0.0,0.2497,0.0846		623/1361	48026991	11,12993	2203	4299	6502	SO:0001819	synonymous_variant	0	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.1869C>T	2.37:g.48026991C>T			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.P623	ENST00000234420.5	37	c.1869	CCDS1836.1	2																																																																																			MSH6	-	pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.408	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4		0	39	0	C	NM_000179		48026991	1			no_errors	ENST00000234420	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.271	T	T	48026991	C	T	48026991	2	4	183	1	0	0	0	0	0	0	0	1	9912	639	23	1		1	MSH6	2	48026991	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	10432486	48026991	195172382	33	45495											
USP34	9736	genome.wustl.edu	37	chr2	61633028	61633028	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtagagtttgattttttttCtattgatttttgtctttctg	5	26	7	3	0	3	3	0	2	3	1	3	3	3	3	0	0	0	2	0	0	2	11			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:61633028C>G	ENST00000398571.2	-	3	443	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	123					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)	p.E123K(1)		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)			GATTTTTTTTCTATTGATTTT	0.343																																																	1	Substitution - Missense(1)	lung(1)											133	117	122					2																	61633028		1809	4062	5871	SO:0001583	missense	0			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.367G>C	2.37:g.61633028C>G	ENSP00000381577:p.Glu123Gln		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.E123Q	ENST00000398571.2	37	c.367	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863113	0.32884	.	.	ENSG00000115464	ENST00000398571	T	0.15139	2.45	6.17	6.17	0.99709	.	0.000000	0.24635	U	0.036852	T	0.10766	0.0263	N	0.12182	0.205	0.33518	D	0.591998	P	0.37466	0.596	B	0.26969	0.075	T	0.11567	-1.0582	10	0.30854	T	0.27	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	123	Q70CQ2	UBP34_HUMAN	Q	123	ENSP00000381577:E123Q	ENSP00000381577:E123Q	E	-	1	0	USP34	61486532	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	4.994000	0.63901	2.941000	0.99782	0.655000	0.94253	GAA	USP34	-	NULL	ENSG00000115464		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4		0	47	0	C			61633028	-1			no_errors	ENST00000398571	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	G	G	61633028	C	G	61633028	3	3	183	1	0	0	0	0	1	0	0	0	17114	922	32	5	10585	5	USP34	2	61633028	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	13606037	61633028	181566345	34	45496											
CNGA3	1261	genome.wustl.edu	37	chr2	99012551	99012551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttcaggattgggaacttGgtcttgtacattctcatcat	9	16	9	7	0	4	0	3	0	2	0	5	2	4	2	0	3	2	2	0	3	2	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:99012551G>T	ENST00000272602.2	+	7	957	c.918G>T	c.(916-918)ttG>ttT	p.L306F	CNGA3_ENST00000409937.1_Missense_Mutation_p.L310F|CNGA3_ENST00000436404.2_Missense_Mutation_p.L288F|CNGA3_ENST00000393504.1_Missense_Mutation_p.L306F			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	306					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)	p.L306F(1)		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						TTGGGAACTTGGTCTTGTACA	0.463																																																	1	Substitution - Missense(1)	lung(1)											116	116	116					2																	99012551		2203	4300	6503	SO:0001583	missense	0			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.918G>T	2.37:g.99012551G>T	ENSP00000272602:p.Leu306Phe		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L306F	ENST00000272602.2	37	c.918	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491763	0.44249	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.99462	-5.94;-5.94;-5.94;-5.94	4.99	1.92	0.25849	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99521	0.9829	H	0.96720	3.87	0.54753	D	0.999986	D;D;D	0.89917	1.0;0.998;0.972	D;D;P	0.85130	0.997;0.995;0.877	D	0.98550	1.0636	10	0.87932	D	0	.	2.8198	0.05468	0.0952:0.1308:0.4548:0.3191	.	310;288;306	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	F	306;288;306;310	ENSP00000377140:L306F;ENSP00000410070:L288F;ENSP00000272602:L306F;ENSP00000386761:L310F	ENSP00000272602:L306F	L	+	3	2	CNGA3	98378983	0.924000	0.31332	1.000000	0.80357	0.952000	0.60782	-0.041000	0.12084	0.688000	0.31529	0.563000	0.77884	TTG	CNGA3	-	pfam_Ion_trans_dom	ENSG00000144191		0.463	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1		0	60	0	G	NM_001298		99012551	1			no_errors	ENST00000272602	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.995	T	T	99012551	G	T	99012551	3	4	183	1	0	0	0	0	1	0	0	0	3605	1339	47	3	944	3	CNGA3	2	99012551	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	37379523	99012551	144186822	35	45497											
SLC5A7	60482	genome.wustl.edu	37	chr2	108608612	108608612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagctgaagcagtttatGtaccaggttatggcctagct	10	11	11	9	0	0	1	0	1	0	0	0	1	0	1	2	2	4	7	2	2	5	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:108608612G>T	ENST00000264047.2	+	3	505	c.229G>T	c.(229-231)Gta>Tta	p.V77L	SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Missense_Mutation_p.V77L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	77					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)	AGCAGTTTATGTACCAGGTTA	0.443																																																	0													186	157	167					2																	108608612		2203	4300	6503	SO:0001583	missense	0			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.229G>T	2.37:g.108608612G>T	ENSP00000264047:p.Val77Leu		Q53TF2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	p.V77L	ENST00000264047.2	37	c.229	CCDS2074.1	2	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818854	0.50633	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.86694	-2.16;-2.16	6.16	6.16	0.99307	.	0.119181	0.56097	D	0.000027	T	0.77384	0.4122	N	0.11201	0.11	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.71076	-0.4697	10	0.11485	T	0.65	-15.9177	20.8598	0.99761	0.0:0.0:1.0:0.0	.	77	Q9GZV3	SC5A7_HUMAN	L	77	ENSP00000387346:V77L;ENSP00000264047:V77L	ENSP00000264047:V77L	V	+	1	0	SLC5A7	107975044	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	3.509000	0.53386	2.937000	0.99478	0.650000	0.86243	GTA	SLC5A7	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	ENSG00000115665		0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A7	HGNC	protein_coding	OTTHUMT00000253562.1	-	0	49	0	G			108608612	1	tier1	-	no_errors	ENST00000264047	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	108608612	G	T	108608612	3	4	183	1	0	0	0	0	1	0	0	0	14715	1377	48	3	235	3	SLC5A7	2	108608612	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	9596061	108608612	134590761	36	45498											
DPP10	57628	genome.wustl.edu	37	chr2	116101417	116101417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcacaaattcgtcagaaaCcagattgtctttggaagacc	14	10	7	10	1	3	3	2	0	1	3	4	4	3	4	2	1	1	0	2	1	3	3	rs201138141		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:116101417C>A	ENST00000410059.1	+	3	680	c.200C>A	c.(199-201)aCc>aAc	p.T67N	DPP10_ENST00000409163.1_Missense_Mutation_p.T17N|DPP10_ENST00000393147.2_Missense_Mutation_p.T71N|DPP10_ENST00000310323.8_Missense_Mutation_p.T60N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	67						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.T60S(1)|p.T67S(1)		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						TCGTCAGAAACCAGATTGTCT	0.348																																																	2	Substitution - Missense(2)	lung(2)											91	95	93					2																	116101417		2203	4300	6503	SO:0001583	missense	0			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.200C>A	2.37:g.116101417C>A	ENSP00000386565:p.Thr67Asn		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.T71N	ENST00000410059.1	37	c.212	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773427	0.31411	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;T;D;T;T;D	0.95788	0.87;0.87;0.87;-3.81;0.87;0.87;-3.81	5.85	4.97	0.65823	.	0.061993	0.64402	D	0.000006	D	0.89037	0.6601	N	0.08118	0	0.39208	D	0.963273	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.10450	0.005;0.001;0.002;0.002	D	0.85531	0.1209	10	0.48119	T	0.1	-22.09	13.0079	0.58717	0.0:0.838:0.162:0.0	.	60;71;63;67	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	17;67;17;63;71;60;17;17	ENSP00000391092:T17N;ENSP00000386565:T67N;ENSP00000387038:T17N;ENSP00000376854:T63N;ENSP00000376855:T71N;ENSP00000309066:T60N;ENSP00000402499:T17N	ENSP00000309066:T60N	T	+	2	0	DPP10	115817887	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	1.852000	0.39348	1.466000	0.48025	0.585000	0.79938	ACC	DPP10	-	NULL	ENSG00000175497		0.348	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4		0	33	0	C	NM_020868		116101417	1			no_errors	ENST00000393147	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	116101417	C	A	116101417	3	1	183	1	0	0	0	0	1	0	0	0	4741	507	18	3	381	3	DPP10	2	116101417	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	7492805	116101417	127097956	37	45499											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125204397	125204398	+	Missense_Mutation	DNP	GC	GC	TT																															ggcagcctcctggatgaccaGcactggcactcggtcctcat																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:125204397_125204398GC>TT	ENST00000431078.1	+	6	1165_1166	c.801_802GC>TT	c.(799-804)caGCac>caTTac	p.267_268QH>HY		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	267	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Q267Q(1)		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)		TGGATGACCAGCACTGGCACTC	0.609																																																	1	Substitution - coding silent(1)	lung(1)																																								SO:0001583	missense	0			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	Exception_encountered	2.37:g.125204397_125204398delinsTT	ENSP00000399013:p.Q267_H268delinsHY		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.Q267H|p.H268Y	ENST00000431078.1	37	c.801|c.802	CCDS46401.1	2																																																																																			CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.609	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	17	0	G|C			125204397|125204398	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	55.56	12	15	SNP	1.000	T	TT	125204398	GC	TT	125204397	3	4	183	1	0	0	0	0	1	0	0	0	3657	962	34	3	823	3	CNTNAP5	2	125204397	Missense_Mutation	DNP	GC	TCGA-Z6-A9VB-01A-21D-A37C-09	9102980	125204397	117994976	38	45500											
KYNU	8942	genome.wustl.edu	37	chr2	143799646	143799646	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ggaatccaaatggcattcgaGtggctccagttcctctctat	9	12	9	11	1	1	0	0	0	1	0	6	2	4	1	3	3	0	3	3	3	3	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:143799646G>T	ENST00000264170.4	+	14	1561	c.1303G>T	c.(1303-1305)Gtg>Ttg	p.V435L	KYNU_ENST00000409512.1_Missense_Mutation_p.V435L	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)		TGGCATTCGagtggctccagt	0.363																																																	0													132	131	131					2																	143799646		2203	4299	6502	SO:0001583	missense	0			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.1303G>T	2.37:g.143799646G>T	ENSP00000264170:p.Val435Leu			Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase	p.V435L	ENST00000264170.4	37	c.1303	CCDS2183.1	2	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993917	0.54041	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.51071	0.72;0.72	5.09	5.09	0.68999	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.184300	0.47093	D	0.000257	T	0.30823	0.0777	N	0.20483	0.58	0.80722	D	1	B	0.12630	0.006	B	0.12837	0.008	T	0.09207	-1.0685	10	0.09590	T	0.72	.	14.1723	0.65517	0.0:0.0:1.0:0.0	.	435	Q16719	KYNU_HUMAN	L	435	ENSP00000264170:V435L;ENSP00000386731:V435L	ENSP00000264170:V435L	V	+	1	0	KYNU	143516116	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.713000	0.61895	2.804000	0.96469	0.650000	0.86243	GTG	KYNU	-	superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase	ENSG00000115919		0.363	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KYNU	HGNC	protein_coding	OTTHUMT00000254772.1	-	0	51	0	G	NM_001032998		143799646	1	tier1	-	no_errors	ENST00000264170	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	143799646	G	T	143799646	3	4	183	1	0	0	0	0	1	0	0	0	8615	1029	36	3	1379	3	KYNU	2	143799646	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	18595249	143799646	99399727	39	45501											
ZEB2	9839	genome.wustl.edu	37	chr2	145156077	145156077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaagagctgtgtataaagGtttggcactaaatgggttca	12	12	13	4	0	1	1	1	0	0	1	1	2	1	2	0	4	1	5	0	4	6	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:145156077G>T	ENST00000558170.2	-	8	3861	c.2677C>A	c.(2677-2679)Cct>Act	p.P893T	ZEB2_ENST00000539609.3_Missense_Mutation_p.P869T|ZEB2_ENST00000409487.3_Missense_Mutation_p.P893T|ZEB2_ENST00000303660.4_Missense_Mutation_p.P893T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	893					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.P893S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGTATAAAGGTTTGGCACTA	0.438																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	prostate(1)											168	160	162					2																	145156077		2203	4300	6503	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2677C>A	2.37:g.145156077G>T	ENSP00000454157:p.Pro893Thr		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.P893T	ENST00000558170.2	37	c.2677	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822484	0.50739	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.15603	2.45;2.41;2.41	5.96	5.08	0.68730	.	0.092903	0.85682	N	0.000000	T	0.39517	0.1081	M	0.68593	2.085	0.80722	D	1	D;B;B;B	0.76494	0.999;0.001;0.096;0.096	D;B;B;B	0.65140	0.932;0.004;0.064;0.064	T	0.26608	-1.0098	10	0.59425	D	0.04	-1.6034	16.3329	0.83049	0.0:0.0:0.8604:0.1396	.	869;758;892;893	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	T	869;893;893	ENSP00000443792:P869T;ENSP00000302501:P893T;ENSP00000386854:P893T	ENSP00000302501:P893T	P	-	1	0	ZEB2	144872547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.968000	0.87980	1.489000	0.48450	0.655000	0.94253	CCT	ZEB2	-	NULL	ENSG00000169554		0.438	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5		0	28	0	G	NM_014795		145156077	-1			no_errors	ENST00000303660	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	145156077	G	T	145156077	3	4	183	1	0	0	0	0	1	0	0	0	17672	1261	44	3	979	3	ZEB2	2	145156077	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	1356431	145156077	98043296	40	45502											
NEB	4703	genome.wustl.edu	37	chr2	152432749	152432749	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tacttaaggttcaccacaggCgtccgatagacactgtcaca	12	9	8	12	2	2	1	2	0	0	1	3	2	3	1	2	2	1	1	2	2	3	4	rs531949723	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:152432749C>T	ENST00000172853.10	-	78	11868	c.11721G>A	c.(11719-11721)acG>acA	p.T3907T	NEB_ENST00000409198.1_Silent_p.T3907T|NEB_ENST00000427231.2_Silent_p.T5608T|NEB_ENST00000603639.1_Silent_p.T5608T|NEB_ENST00000604864.1_Silent_p.T5608T|NEB_ENST00000397345.3_Silent_p.T5608T			P20929	NEBU_HUMAN	nebulin	3907					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)		TCACCACAGGCGTCCGATAGA	0.443													C|||	2	0.000399361	0	0	5008	,	,		9308	0		0	False		,,,				2504	0.002																0													68	71	70					2																	152432749		1893	4119	6012	SO:0001819	synonymous_variant	0			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.11721G>A	2.37:g.152432749C>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.T5608	ENST00000172853.10	37	c.16824		2																																																																																			NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.443	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	46	0	C	NM_004543		152432749	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	60.53	15	23	SNP	0.731	T	T	152432749	C	T	152432749	2	4	183	1	0	0	0	0	0	0	0	1	10341	755	27	1		1	NEB	2	152432749	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	7276672	152432749	90766624	41	45503											
TTN	7273	genome.wustl.edu	37	chr2	179611959	179611959	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtatctctctagtgtctcCcctgggggtgtggagtatct	5	14	13	9	0	4	0	0	0	4	0	6	2	4	1	2	3	0	2	2	3	3	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:179611959C>A	ENST00000591111.1	-	46	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Silent_p.G5056G|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)			CTAGTGTCTCCCCTGGGGGTG	0.498																																																	0													63	67	65					2																	179611959		2203	4300	6503	SO:0001627	intron_variant	0			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.10361-5311G>T	2.37:g.179611959C>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G5056	ENST00000591111.1	37	c.15168		2																																																																																			TTN	-	NULL	ENSG00000155657		0.498	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	57	0	C	NM_133378		179611959	-1	tier1	-	no_errors	ENST00000360870	ensembl	human	known	74_37	silent	72.46	19	50	SNP	0.970	A	A	179611959	C	A	179611959	1	1	183	0	1	0	0	0	0	0	0	0	16784	610	22	3		3	TTN	2	179611959	Intron	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	27179210	179611959	63587414	42	45504											
HECW2	57520	genome.wustl.edu	37	chr2	197189751	197189751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttactgatgatagtagaccGtctctcctgcccgtggtggg	6	12	13	10	2	1	3	0	2	1	1	3	3	2	3	3	2	2	2	3	2	3	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:197189751G>A	ENST00000260983.3	-	6	876	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	HECW2_ENST00000409111.1_De_novo_Start_OutOfFrame	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	232	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						ATAGTAGACCGTCTCTCCTGC	0.507																																																	0													273	244	254					2																	197189751		2203	4300	6503	SO:0001583	missense	0			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.694C>T	2.37:g.197189751G>A	ENSP00000260983:p.Arg232Trp		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.R232W	ENST00000260983.3	37	c.694	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527111	0.44969	.	.	ENSG00000138411	ENST00000260983	T	0.73681	-0.77	5.2	1.38	0.22167	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.116668	0.56097	D	0.000031	D	0.84311	0.5444	M	0.73962	2.25	0.49299	D	0.999778	D	0.89917	1.0	D	0.97110	1.0	D	0.84866	0.0822	10	0.87932	D	0	.	14.1855	0.65603	0.0:0.0:0.5161:0.4839	.	232	Q9P2P5	HECW2_HUMAN	W	232	ENSP00000260983:R232W	ENSP00000260983:R232W	R	-	1	2	HECW2	196897996	1.000000	0.71417	0.981000	0.43875	0.263000	0.26337	2.011000	0.40922	0.078000	0.16900	-1.014000	0.02459	CGG	HECW2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000138411		0.507	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3		0	18	0	G	NM_020760		197189751	-1			no_errors	ENST00000260983	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.998	A	A	197189751	G	A	197189751	3	1	183	1	0	0	0	0	1	0	0	0	7070	1144	40	1	4120	1	HECW2	2	197189751	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	17577792	197189751	46009622	43	45505											
CLK1	1195	genome.wustl.edu	37	chr2	201718664	201718664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	tcttgaaacatatctgccggCagaactgtgttcatcccagt	10	12	8	11	1	3	2	1	1	2	1	4	2	4	2	2	1	3	2	2	1	3	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:201718664C>A	ENST00000321356.4	-	12	1408	c.1273G>T	c.(1273-1275)Gcc>Tcc	p.A425S	CLK1_ENST00000434813.2_Missense_Mutation_p.A467S|CLK1_ENST00000409769.2_Missense_Mutation_p.A248S	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	425	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						TATCTGCCGGCAGAACTGTGT	0.358																																																	0													123	118	119					2																	201718664		2203	4300	6503	SO:0001583	missense	0			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.1273G>T	2.37:g.201718664C>A	ENSP00000326830:p.Ala425Ser		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A425S	ENST00000321356.4	37	c.1273	CCDS2331.1	2	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587152	0.28268	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.19394	2.15;2.15;2.15	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054531	0.85682	D	0.000000	T	0.12390	0.0301	N	0.03029	-0.43	0.52099	D	0.999946	B;B;B;B	0.18741	0.004;0.004;0.004;0.03	B;B;B;B	0.26969	0.075;0.075;0.075;0.069	T	0.21381	-1.0247	10	0.31617	T	0.26	.	19.1948	0.93682	0.0:1.0:0.0:0.0	.	467;395;425;248	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	S	425;395;248;467	ENSP00000326830:A425S;ENSP00000386358:A248S;ENSP00000394734:A467S	ENSP00000326830:A425S	A	-	1	0	CLK1	201426909	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	2.458000	0.45014	2.619000	0.88677	0.462000	0.41574	GCC	CLK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000013441		0.358	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	-	0	43	0	C			201718664	-1	tier1	-	no_errors	ENST00000321356	ensembl	human	known	74_37	missense	27.91	31	12	SNP	1.000	A	A	201718664	C	A	201718664	3	1	183	1	0	0	0	0	1	0	0	0	3543	710	25	3	189	3	CLK1	2	201718664	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	4528913	201718664	41480709	44	45506											
DOCK10	55619	genome.wustl.edu	37	chr2	225702493	225702493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcataccttaatatatgactGgacagaatgatccagctgct	13	12	7	9	0	1	3	1	2	0	1	2	4	2	4	2	1	3	2	2	1	5	4	rs569075728		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:225702493G>C	ENST00000258390.7	-	25	2903	c.2836C>G	c.(2836-2838)Cag>Gag	p.Q946E	DOCK10_ENST00000409592.3_Missense_Mutation_p.Q940E	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	946					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)		ATATATGACTGGACAGAATGA	0.468																																																	0													80	79	79					2																	225702493		1953	4149	6102	SO:0001583	missense	0			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.2836C>G	2.37:g.225702493G>C	ENSP00000258390:p.Gln946Glu		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q946E	ENST00000258390.7	37	c.2836	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092932	0.36952	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.64085	3.61;-0.08	5.67	4.71	0.59529	.	0.212900	0.49916	D	0.000131	T	0.56171	0.1967	L	0.44542	1.39	0.25874	N	0.983671	B;B	0.17852	0.024;0.008	B;B	0.15484	0.013;0.013	T	0.49588	-0.8924	10	0.39692	T	0.17	.	17.5059	0.87745	0.0:0.0:0.8405:0.1595	.	946;940	Q96BY6;B3FL70	DOC10_HUMAN;.	E	940;946	ENSP00000386694:Q940E;ENSP00000258390:Q946E	ENSP00000258390:Q946E	Q	-	1	0	DOCK10	225410737	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.160000	0.71862	2.680000	0.91292	0.563000	0.77884	CAG	DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.468	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1		0	39	0	G			225702493	-1			no_errors	ENST00000258390	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	C	C	225702493	G	C	225702493	3	2	183	1	0	0	0	0	1	0	0	0	4699	1357	47	5	3852	5	DOCK10	2	225702493	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	23983829	225702493	17496880	45	45507											
KIAA1486	57624	genome.wustl.edu	37	chr2	226447741	226447741	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	agtggccggcgctccaaagaGcctgcagagagtaagtgtgc	10	6	15	10	2	0	2	0	0	0	2	1	3	1	2	3	2	3	3	3	2	2	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr2:226447741G>T	ENST00000272907.6	+	4	2021	c.1608G>T	c.(1606-1608)gaG>gaT	p.E536D	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	536					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCTCCAAAGAGCCTGCAGAGA	0.647																																																	0													12	13	12					2																	226447741		1869	4013	5882	SO:0001583	missense	0			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.1608G>T	2.37:g.226447741G>T	ENSP00000272907:p.Glu536Asp		A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.E536D	ENST00000272907.6	37	c.1608	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.715	0.912895	0.17907	.	.	ENSG00000144460	ENST00000272907	T	0.35236	1.32	5.63	-5.03	0.02973	.	0.225316	0.43919	N	0.000519	T	0.25344	0.0616	L	0.49350	1.555	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.004	T	0.01925	-1.1246	10	0.37606	T	0.19	-21.2917	10.0598	0.42268	0.6432:0.1024:0.2544:0.0	.	50;536	Q9P242-3;Q9P242	.;K1486_HUMAN	D	536	ENSP00000272907:E536D	ENSP00000272907:E536D	E	+	3	2	KIAA1486	226155985	0.817000	0.29147	0.129000	0.21949	0.477000	0.33069	-0.004000	0.12878	-0.880000	0.03997	-0.302000	0.09304	GAG	NYAP2	-	NULL	ENSG00000144460		0.647	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	-	0	54	0	G	NM_020864		226447741	1	tier1	-	no_errors	ENST00000272907	ensembl	human	known	74_37	missense	30.77	18	8	SNP	0.880	T	T	226447741	G	T	226447741	3	4	183	1	0	0	0	0	1	0	0	0	8264	962	34	3	1618	3	KIAA1486	2	226447741	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	745248	226447741	16751632	46	45508											
SEC13	6396	genome.wustl.edu	37	chr3	10357052	10357052	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccattgcgcacatcaaaGattttgacggacctgtctga	10	11	8	12	2	2	3	1	2	1	1	3	4	3	4	3	1	1	1	3	1	1	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:10357052G>T	ENST00000350697.3	-	3	242	c.117C>A	c.(115-117)atC>atA	p.I39I	SEC13_ENST00000397117.1_Silent_p.I25I|SEC13_ENST00000383801.2_Silent_p.I85I|SEC13_ENST00000337354.4_Silent_p.I42I|SEC13_ENST00000397109.3_Silent_p.I25I	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	39					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						GCACATCAAAGATTTTGACGG	0.597																																																	0													77	69	72					3																	10357052		2203	4300	6503	SO:0001819	synonymous_variant	0				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.117C>A	3.37:g.10357052G>T			A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I39	ENST00000350697.3	37	c.117	CCDS2599.1	3																																																																																			SEC13	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000157020		0.597	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC13	HGNC	protein_coding	OTTHUMT00000250563.3		0	29	0	G			10357052	-1			no_errors	ENST00000350697	ensembl	human	known	74_37	silent	9.52	19	2	SNP	1.000	T	T	10357052	G	T	10357052	2	4	183	1	0	0	0	0	0	0	0	1	14025	932	33	3		3	SEC13	3	10357052	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		10357052	187665378	47	45509											
NUP210	23225	genome.wustl.edu	37	chr3	13363115	13363115	+	Frame_Shift_Del	DEL	A	A	-																															tccagaacctccggggcaccAaagaccctgatctcggaact																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:13363115delA	ENST00000254508.5	-	36	5218	c.5136delT	c.(5134-5136)tttfs	p.F1712fs		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1712					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCGGGGCACCAAAGACCCTGA	0.617																																																	0													84	87	86					3																	13363115		2203	4300	6503	SO:0001589	frameshift_variant	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5136delT	3.37:g.13363115delA	ENSP00000254508:p.Phe1712fs		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Frame_Shift_Del	DEL	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.F1712fs	ENST00000254508.5	37	c.5136	CCDS33704.1	3																																																																																			NUP210	-	NULL	ENSG00000132182		0.617	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1		0	41	0	A	NM_024923		13363115	-1	tier1		no_errors	ENST00000254508	ensembl	human	known	74_37	frame_shift_del	16.67	10	2	DEL	0.997	-	-	13363115	A	-	13363115	7	5	183	1	0	1	0	1	0	0	0	0	10799	127	5	0	547	0	NUP210	3	13363115	Frame_Shift_Del	DEL	A	TCGA-Z6-A9VB-01A-21D-A37C-09	3006063	13363115	184659315	48	45510											
BTD	686	genome.wustl.edu	37	chr3	15676984	15676984	+	Frame_Shift_Del	DEL	G	G	-																															taagcttgctcttttcctctGcggctgttacgtggttgccc																								rs141131444|rs80338684		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:15676984delG	ENST00000303498.5	+	2	207	c.98delG	c.(97-99)tgcfs	p.C33fs	BTD_ENST00000437172.1_Frame_Shift_Del_p.C35fs|BTD_ENST00000383778.4_Frame_Shift_Del_p.C13fs|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Frame_Shift_Del_p.C35fs	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	33					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CTTTTCCTCTGCGGCTGTTAC	0.522																																																	0			GRCh37	CX952003	BTD	X	rs80338684						172	165	168					3																	15676984		2203	4300	6503	SO:0001589	frameshift_variant	0			AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.98delG	3.37:g.15676984delG	ENSP00000306477:p.Cys33fs		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Frame_Shift_Del	DEL	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.C33fs	ENST00000303498.5	37	c.98	CCDS2628.1	3																																																																																			BTD	-	pirsf_Biotinidase_euk	ENSG00000169814		0.522	BTD-001	KNOWN	basic|CCDS	protein_coding	BTD	HGNC	protein_coding	OTTHUMT00000252103.2		0	46	0	G	NM_000060		15676984	1	tier1		no_errors	ENST00000303498	ensembl	human	known	74_37	frame_shift_del	12.50	14	2	DEL	0.023	-	-	15676984	G	-	15676984	7	5	183	1	0	1	0	1	0	0	0	0	1554	1319	46	0	104	0	BTD	3	15676984	Frame_Shift_Del	DEL	G	TCGA-Z6-A9VB-01A-21D-A37C-09	2313869	15676984	182345446	49	45511											
KAT2B	8850	genome.wustl.edu	37	chr3	20193844	20193844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgaaaaccatgagtgaaCgcctcaagaataggtactac	16	8	8	9	1	2	4	1	3	1	1	2	4	2	4	2	1	4	1	2	1	8	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:20193844C>T	ENST00000263754.4	+	18	2781	c.2326C>T	c.(2326-2328)Cgc>Tgc	p.R776C		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	776	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035, ECO:0000305}.				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						CATGAGTGAACGCCTCAAGAA	0.408																																																	0													82	82	82					3																	20193844		2203	4300	6503	SO:0001583	missense	0			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.2326C>T	3.37:g.20193844C>T	ENSP00000263754:p.Arg776Cys		Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.R776C	ENST00000263754.4	37	c.2326	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931141	0.92389	.	.	ENSG00000114166	ENST00000263754	T	0.22945	1.93	5.67	5.67	0.87782	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73760	-0.3881	10	0.87932	D	0	-14.2286	14.9253	0.70871	0.1431:0.8569:0.0:0.0	.	776	Q92831	KAT2B_HUMAN	C	776	ENSP00000263754:R776C	ENSP00000263754:R776C	R	+	1	0	KAT2B	20168848	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.890000	0.69774	2.836000	0.97738	0.655000	0.94253	CGC	KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	ENSG00000114166		0.408	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	-	0	36	0	C	NM_003884		20193844	1	tier1	-	no_errors	ENST00000263754	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T	T	20193844	C	T	20193844	3	4	183	1	0	0	0	0	1	0	0	0	8009	536	19	1	2396	1	KAT2B	3	20193844	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	4516860	20193844	177828586	50	45512											
TGFBR2	7048	genome.wustl.edu	37	chr3	30715615	30715615	+	Missense_Mutation	SNP	A	A	G	1	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	aggtgggaactgcaagatacAtggctccagaagtcctagaa	14	7	12	8	0	0	3	0	0	0	3	2	4	2	4	2	3	3	2	2	3	6	2	rs104893817		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:30715615A>G	ENST00000295754.5	+	5	1655	c.1273A>G	c.(1273-1275)Atg>Gtg	p.M425V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.M450V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	425	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|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 II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TGCAAGATACATGGCTCCAGA	0.458																																																	0			GRCh37	CM060084	TGFBR2	M	rs104893817						121	112	115					3																	30715615		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1273A>G	3.37:g.30715615A>G	ENSP00000295754:p.Met425Val		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.M450V	ENST00000295754.5	37	c.1348	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495639	0.85069	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.94232	-3.38;-3.38	6.02	6.02	0.97574	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	0.96632	0.8901	M	0.78049	2.395	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97069	0.9776	9	0.87932	D	0	.	16.5494	0.84464	1.0:0.0:0.0:0.0	.	425;450	P37173;D2JYI1	TGFR2_HUMAN;.	V	425;450;255	ENSP00000295754:M425V;ENSP00000351905:M450V	ENSP00000295754:M425V	M	+	1	0	TGFBR2	30690619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.299000	0.77371	0.528000	0.53228	ATG	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000163513		0.458	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0	50	0	A			30715615	1	tier1	rs104893817	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	G	G	30715615	A	G	30715615	3	3	183	1	0	0	0	0	1	0	0	0	15869	217	8	4	1370	4	TGFBR2	3	30715615	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	10521771	30715615	167306815	51	45513											
STT3B	201595	genome.wustl.edu	37	chr3	31666481	31666481	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagatgaacatgcacgagtAatgtcttggtgggattatgg	12	11	13	5	1	1	2	0	1	1	1	1	4	1	3	0	3	2	2	0	3	3	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:31666481A>G	ENST00000295770.2	+	12	2012	c.1803A>G	c.(1801-1803)gtA>gtG	p.V601V		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	601					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						ATGCACGAGTAATGTCTTGGT	0.383																																																	0													198	198	198					3																	31666481		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1803A>G	3.37:g.31666481A>G			Q96JZ4|Q96KY7	Silent	SNP	pfam_Oligo_trans_STT3	p.V601	ENST00000295770.2	37	c.1803	CCDS2650.1	3																																																																																			STT3B	-	pfam_Oligo_trans_STT3	ENSG00000163527		0.383	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2	-	0	25	0	A	NM_178862		31666481	1	tier1	-	no_errors	ENST00000295770	ensembl	human	known	74_37	silent	50.00	12	12	SNP	0.999	G	G	31666481	A	G	31666481	2	3	183	1	0	0	0	0	0	0	0	1	15381	349	13	4		4	STT3B	3	31666481	Silent	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	950866	31666481	166355949	52	45514											
XIRP1	165904	genome.wustl.edu	37	chr3	39227196	39227196	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaaggcattatgggggtgCgggctggcacctgcagcttg	8	8	16	9	1	0	0	0	0	0	0	0	0	0	0	1	5	3	5	1	5	2	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:39227196C>T	ENST00000340369.3	-	2	3969	c.3741G>A	c.(3739-3741)ccG>ccA	p.P1247P	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1247	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)		TATGGGGGTGCGGGCTGGCAC	0.637																																																	0													28	34	32					3																	39227196		2203	4299	6502	SO:0001819	synonymous_variant	0			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.3741G>A	3.37:g.39227196C>T			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.P1247	ENST00000340369.3	37	c.3741	CCDS2683.1	3																																																																																			XIRP1	-	NULL	ENSG00000168334		0.637	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1		0	66	0	C	XM_093522		39227196	-1			no_errors	ENST00000340369	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.999	T	T	39227196	C	T	39227196	2	4	183	1	0	0	0	0	0	0	0	1	17478	755	27	1		1	XIRP1	3	39227196	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	7560715	39227196	158795234	53	45515											
KALRN	8997	genome.wustl.edu	37	chr3	124114025	124114025	+	Missense_Mutation	SNP	A	A	G	1	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	tcagaaggagatgttggaggAtgtctgtgcagattctgtgg	9	12	16	4	0	3	3	1	0	2	3	3	6	3	5	0	4	1	2	0	4	1	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:124114025A>G	ENST00000240874.3	+	12	2157	c.2000A>G	c.(1999-2001)gAt>gGt	p.D667G	KALRN_ENST00000360013.3_Missense_Mutation_p.D667G|KALRN_ENST00000460856.1_Missense_Mutation_p.D667G	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	667					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						ATGTTGGAGGATGTCTGTGCA	0.527																																																	0													108	98	101					3																	124114025		2203	4300	6503	SO:0001583	missense	0			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.2000A>G	3.37:g.124114025A>G	ENSP00000240874:p.Asp667Gly		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.D667G	ENST00000240874.3	37	c.2000	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.67|16.67	3.188767|3.188767	0.57909|0.57909	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170|ENST00000354186	T;T;T;T|.	0.67345|.	0.85;0.85;-0.26;0.85|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.060669|.	0.64402|.	D|.	0.000006|.	T|T	0.70245|0.70245	0.3202|0.3202	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;B;P;P|.	0.50819|.	0.774;0.006;0.939;0.855|.	P;B;P;P|.	0.54544|.	0.574;0.011;0.516;0.755|.	T|T	0.69057|0.69057	-0.5246|-0.5246	10|5	0.48119|.	T|.	0.1|.	.|.	15.3885|15.3885	0.74723|0.74723	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	667;26;667;667|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	G|V	667;667;667;143|645	ENSP00000418611:D667G;ENSP00000240874:D667G;ENSP00000353109:D667G;ENSP00000402950:D143G|.	ENSP00000240874:D667G|.	D|M	+|+	2|1	0|0	KALRN|KALRN	125596715|125596715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.139000|9.139000	0.94554|0.94554	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	GAT|ATG	KALRN	-	smart_Spectrin/alpha-actinin	ENSG00000160145		0.527	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	-	0	23	0	A	NM_003947		124114025	1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	43.48	13	10	SNP	1.000	G	G	124114025	A	G	124114025	3	3	183	1	0	0	0	0	1	0	0	0	8002	333	12	4	2046	4	KALRN	3	124114025	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	84886829	124114025	73908405	54	45516											
HEG1	57493	genome.wustl.edu	37	chr3	124692645	124692645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgcatttcaatagcttctCggccccattcttgtgagcga	8	13	8	12	2	3	1	1	1	2	0	4	2	3	1	2	1	3	2	2	1	2	5	rs375137864		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:124692645C>T	ENST00000311127.4	-	16	3993	c.3926G>A	c.(3925-3927)cGa>cAa	p.R1309Q		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1309					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						AATAGCTTCTCGGCCCCATTC	0.438																																																	0								C	GLN/ARG	0,3740		0,0,1870	118	116	117		3926	5	1	3		117	1,8203		0,1,4101	no	missense	HEG1	NM_020733.1	43	0,1,5971	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	1309/1382	124692645	1,11943	1870	4102	5972	SO:0001583	missense	0			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.3926G>A	3.37:g.124692645C>T	ENSP00000311502:p.Arg1309Gln		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.R1309Q	ENST00000311127.4	37	c.3926	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.441701	0.96187	0.0	1.22E-4	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.92348	-3.02;0.72	4.97	4.97	0.65823	.	0.000000	0.32273	U	0.006332	D	0.93106	0.7805	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.94365	0.7591	10	0.87932	D	0	.	18.4352	0.90643	0.0:1.0:0.0:0.0	.	1309	Q9ULI3	HEG1_HUMAN	Q	1309;193	ENSP00000311502:R1309Q;ENSP00000417648:R193Q	ENSP00000311502:R1309Q	R	-	2	0	HEG1	126175335	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.273000	0.78527	2.577000	0.86979	0.655000	0.94253	CGA	HEG1	-	NULL	ENSG00000173706		0.438	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	-	0	66	0	C	XM_087386		124692645	-1	tier1	-	no_errors	ENST00000311127	ensembl	human	known	74_37	missense	8.51	41	4	SNP	1.000	T	T	124692645	C	T	124692645	3	4	183	1	0	0	0	0	1	0	0	0	7071	884	31	1	227	1	HEG1	3	124692645	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	578620	124692645	73329785	55	45517											
EPHB1	2047	genome.wustl.edu	37	chr3	134880886	134880886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgagttcaactcctccatGgccaggagtcagaccaacac	13	7	8	13	0	2	2	2	1	0	1	4	3	4	3	4	2	2	1	4	2	3	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:134880886G>T	ENST00000398015.3	+	7	1819	c.1449G>T	c.(1447-1449)atG>atT	p.M483I	EPHB1_ENST00000493838.1_Missense_Mutation_p.M44I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	483	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						ACTCCTCCATGGCCAGGAGTC	0.552																																																	0													96	100	99					3																	134880886		2076	4231	6307	SO:0001583	missense	0			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.1449G>T	3.37:g.134880886G>T	ENSP00000381097:p.Met483Ile		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.M483I	ENST00000398015.3	37	c.1449	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	4.082	0.013118	0.07912	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.55930	0.49;0.49	5.54	5.54	0.83059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.282642	0.39020	N	0.001483	T	0.22513	0.0543	N	0.01242	-0.935	0.33799	D	0.626486	B	0.02656	0.0	B	0.04013	0.001	T	0.29181	-1.0020	10	0.10111	T	0.7	.	12.9216	0.58234	0.0733:0.0:0.9267:0.0	.	483	P54762	EPHB1_HUMAN	I	483;44	ENSP00000381097:M483I;ENSP00000419574:M44I	ENSP00000381097:M483I	M	+	3	0	EPHB1	136363576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.691000	0.37721	2.884000	0.98904	0.655000	0.94253	ATG	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154928		0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1		0	51	0	G	NM_004441		134880886	1			no_errors	ENST00000398015	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	134880886	G	T	134880886	3	4	183	1	0	0	0	0	1	0	0	0	5190	1348	47	3	1475	3	EPHB1	3	134880886	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	10188241	134880886	63141544	56	45518											
CLSTN2	64084	genome.wustl.edu	37	chr3	140185549	140185549	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgacacctttcgccccgcGgagttccactggaagctgga	7	8	12	14	3	0	1	0	1	0	0	2	4	1	4	4	3	1	3	4	3	1	2	rs375235313		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:140185549G>T	ENST00000458420.3	+	8	1510	c.1320G>T	c.(1318-1320)gcG>gcT	p.A440A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	440					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTCGCCCCGCGGAGTTCCACT	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													63	55	58					3																	140185549		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1320G>T	3.37:g.140185549G>T			B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A440	ENST00000458420.3	37	c.1320	CCDS3112.1	3																																																																																			CLSTN2	-	superfamily_ConA-like_lec_gl_sf	ENSG00000158258		0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3		0	40	0	G	NM_022131		140185549	1			no_errors	ENST00000458420	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.037	T	T	140185549	G	T	140185549	2	4	183	1	0	0	0	0	0	0	0	1	3569	1103	39	2		2	CLSTN2	3	140185549	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	5304663	140185549	57836881	57	45519											
SLC9A9	285195	genome.wustl.edu	37	chr3	143412093	143412093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcagtgaaatgaaagtctCcatttttcagctggccagca	12	11	9	9	0	3	2	2	2	1	0	4	2	3	2	2	1	2	2	2	1	2	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:143412093C>A	ENST00000316549.6	-	5	798	c.590G>T	c.(589-591)gGa>gTa	p.G197V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	197					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ATGAAAGTCTCCATTTTTCAG	0.343																																																	0													104	103	103					3																	143412093		2203	4300	6503	SO:0001583	missense	0			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.590G>T	3.37:g.143412093C>A	ENSP00000320246:p.Gly197Val		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.G197V	ENST00000316549.6	37	c.590	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842742	0.71488	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.15017	2.46	5.53	5.53	0.82687	Cation/H+ exchanger (1);	0.166829	0.41001	D	0.000976	T	0.21062	0.0507	L	0.41356	1.27	0.80722	D	1	P	0.42456	0.78	P	0.45577	0.486	T	0.01914	-1.1248	10	0.12430	T	0.62	.	19.4414	0.94823	0.0:1.0:0.0:0.0	.	197	Q8IVB4	SL9A9_HUMAN	V	197;80	ENSP00000320246:G197V	ENSP00000320246:G197V	G	-	2	0	SLC9A9	144894783	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.992000	0.63889	2.599000	0.87857	0.650000	0.86243	GGA	SLC9A9	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000181804		0.343	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	-	0	42	0	C	NM_173653		143412093	-1	tier1	-	no_errors	ENST00000316549	ensembl	human	known	74_37	missense	18.85	99	23	SNP	1.000	A	A	143412093	C	A	143412093	3	1	183	1	0	0	0	0	1	0	0	0	14766	855	30	3	1395	3	SLC9A9	3	143412093	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	3226544	143412093	54610337	58	45520											
LRRC34	151827	genome.wustl.edu	37	chr3	169514579	169514579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgttcagatacagtgcatCacataactgttgtataccac	13	12	6	10	0	2	1	2	0	0	1	2	1	2	1	1	0	4	4	1	0	4	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:169514579C>T	ENST00000316515.7	-	7	1003	c.727G>A	c.(727-729)Gat>Aat	p.D243N	LRRC34_ENST00000524327.1_5'UTR|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000522830.1_Missense_Mutation_p.D227N|RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000522526.2_Missense_Mutation_p.D256N|LRRC34_ENST00000446859.1_Missense_Mutation_p.D288N	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	243										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TACAGTGCATCACATAACTGT	0.358																																																	0													140	117	124					3																	169514579		2203	4300	6503	SO:0001583	missense	0			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.727G>A	3.37:g.169514579C>T	ENSP00000326150:p.Asp243Asn		B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D288N	ENST00000316515.7	37	c.862		3	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956093	0.18507	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526;ENST00000528597	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.9	5.97	2.22	0.28083	.	0.445951	0.28724	N	0.014358	T	0.37625	0.1010	L	0.45352	1.415	0.35472	D	0.797456	B;B;B;B;B	0.18310	0.001;0.004;0.002;0.027;0.006	B;B;B;B;B	0.15484	0.002;0.002;0.006;0.013;0.004	T	0.34825	-0.9813	10	0.45353	T	0.12	-7.97	10.3027	0.43661	0.0:0.7421:0.0:0.2579	.	275;227;227;288;243	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	N	288;243;227;256;37	ENSP00000414635:D288N;ENSP00000326150:D243N;ENSP00000429593:D227N;ENSP00000429278:D256N;ENSP00000436883:D37N	ENSP00000326150:D243N	D	-	1	0	LRRC34	170997273	1.000000	0.71417	0.258000	0.24420	0.004000	0.04260	2.763000	0.47605	0.142000	0.18901	-0.820000	0.03113	GAT	LRRC34	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000171757		0.358	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	HGNC	protein_coding			0	23	0	C	NM_153353		169514579	-1			no_errors	ENST00000446859	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.999	T	T	169514579	C	T	169514579	3	4	183	1	0	0	0	0	1	0	0	0	9024	826	29	3	570	3	LRRC34	3	169514579	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	26102486	169514579	28507851	59	45521											
KCNMB3	27094	genome.wustl.edu	37	chr3	178962477	178962477	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggtcgattcttctctctGaatgcttcaatttgaaaaaa	12	14	7	8	1	4	2	1	2	3	0	6	3	4	2	0	1	1	2	0	1	5	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:178962477G>A	ENST00000314235.5	-	3	776	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	KCNMB3_ENST00000486944.1_5'Flank|KCNMB3_ENST00000392685.2_Nonsense_Mutation_p.Q85*|KCNMB3_ENST00000497599.1_Nonsense_Mutation_p.Q87*|KCNMB3_ENST00000349697.2_Nonsense_Mutation_p.Q87*|KCNMB3_ENST00000485523.1_Nonsense_Mutation_p.Q67*	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	89					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	TCTTCTCTCTGAATGCTTCAA	0.433																																																	0													52	52	52					3																	178962477		2203	4300	6503	SO:0001587	stop_gained	0			AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"Potassium channels"	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.265C>T	3.37:g.178962477G>A	ENSP00000319370:p.Gln89*		B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_bsu	p.Q89*	ENST00000314235.5	37	c.265	CCDS3226.1	3	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694826	0.48202	.	.	ENSG00000171121	ENST00000497599;ENST00000392685;ENST00000349697;ENST00000314235;ENST00000485523	.	.	.	5.43	2.4	0.29515	.	0.414974	0.27739	N	0.018041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-14.8375	3.9475	0.09355	0.2568:0.0:0.53:0.2132	.	.	.	.	X	87;85;87;89;67	.	ENSP00000319370:Q89X	Q	-	1	0	KCNMB3	180445171	0.993000	0.37304	0.023000	0.16930	0.018000	0.09664	2.337000	0.43947	0.231000	0.21079	-0.150000	0.13652	CAG	KCNMB3	-	pfam_K_chnl_Ca-activ_BK_bsu	ENSG00000171121		0.433	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	KCNMB3	HGNC	protein_coding	OTTHUMT00000348484.1		0	24	0	G			178962477	-1			no_errors	ENST00000314235	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	0.096	A	A	178962477	G	A	178962477	4	1	183	1	0	0	0	0	0	1	0	0	8103	1299	45	3	655	3	KCNMB3	3	178962477	Nonsense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	9447898	178962477	19059953	60	45522											
C3orf59	151963	genome.wustl.edu	37	chr3	192516915	192516915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccagctctgggccactgCaggccaacctttgaaagata	11	7	11	12	0	1	2	0	1	1	1	1	3	1	2	4	2	4	2	4	2	3	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr3:192516915C>A	ENST00000392452.2	-	2	1056	c.736G>T	c.(736-738)Gca>Tca	p.A246S		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	246							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGGGCCACTGCAGGCCAACCT	0.488																																																	0													86	80	82					3																	192516915		2203	4300	6503	SO:0001583	missense	0			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.736G>T	3.37:g.192516915C>A	ENSP00000376246:p.Ala246Ser		Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.A246S	ENST00000392452.2	37	c.736	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436554	0.62955	.	.	ENSG00000180611	ENST00000392452	T	0.07688	3.17	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.50919	1.6	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.04140	-1.0974	10	0.10111	T	0.7	-16.7747	18.6978	0.91607	0.0:1.0:0.0:0.0	.	246	Q8IYB1	M21D2_HUMAN	S	246	ENSP00000376246:A246S	ENSP00000376246:A246S	A	-	1	0	MB21D2	193999609	1.000000	0.71417	0.523000	0.27875	0.994000	0.84299	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	GCA	MB21D2	-	pfam_Mab-21_dom	ENSG00000180611		0.488	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	-	0	45	0	C	NM_178496		192516915	-1	tier1	-	no_errors	ENST00000392452	ensembl	human	known	74_37	missense	17.91	55	12	SNP	1.000	A	A	192516915	C	A	192516915	3	1	183	1	0	0	0	0	1	0	0	0	2244	710	25	3	743	3	C3orf59	3	192516915	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	13554438	192516915	5505515	61	45523											
IDUA	3425	genome.wustl.edu	37	chr4	998144	998145	+	Frame_Shift_Ins	INS	-	-	T																															gtgccgtacctggaggtcccINStgtgccaagagggcccccat																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:998144_998145insT	ENST00000247933.4	+	14	2013_2014	c.1925_1926insT	c.(1924-1929)cctgtgfs	p.V643fs	IDUA_ENST00000453894.1_Frame_Shift_Ins_p.V665fs|IDUA_ENST00000514224.1_Frame_Shift_Ins_p.V511fs	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	643					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)			CTGGAGGTCCCTGTGCCAAGAG	0.668																																																	0																																										SO:0001589	frameshift_variant	0			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.1926dupT	4.37:g.998145_998145dupT	ENSP00000247933:p.Val643fs		B3KWK6	Frame_Shift_Ins	INS	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.V665fs	ENST00000247933.4	37	c.1991_1992	CCDS3343.1	4																																																																																			IDUA	-	NULL	ENSG00000127415		0.668	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	HGNC	protein_coding	OTTHUMT00000201812.1		0	66	0	-	NM_000203		998145	1	tier1		no_errors	ENST00000453894	ensembl	human	known	74_37	frame_shift_ins	9.52	19	2	INS	0.038:0.002	T	T	998145	-	T	998144	7	5	183	1	0	1	1	0	0	0	0	0	7531	681	24	0	1979	0	IDUA	4	998144	Frame_Shift_Ins	INS	-	TCGA-Z6-A9VB-01A-21D-A37C-09		998144	190156132	62	45524											
SLIT2	9353	genome.wustl.edu	37	chr4	20568920	20568920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atattctagctaagtgtaacCcctgcctatcaaatccgtgt	11	13	6	11	1	2	0	1	0	1	0	3	0	3	0	4	0	3	2	4	0	6	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:20568920C>T	ENST00000504154.1	+	27	3013	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	SLIT2_ENST00000503823.1_Missense_Mutation_p.P913S|SLIT2_ENST00000503837.1_Missense_Mutation_p.P917S|SLIT2_ENST00000273739.5_Missense_Mutation_p.P925S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	921	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TAAGTGTAACCCCTGCCTATC	0.363																																																	0													206	202	203					4																	20568920		2203	4299	6502	SO:0001583	missense	0			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.2761C>T	4.37:g.20568920C>T	ENSP00000422591:p.Pro921Ser		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.P921S	ENST00000504154.1	37	c.2761	CCDS3426.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.755582|4.755582	0.89843|0.89843	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000509941|ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	.|D;D;D;D;D	.|0.99735	.|-1.98;-1.98;-1.98;-1.98;-6.58	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99591|0.99591	0.9852|0.9852	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.99;1.0	.|D;D	.|0.97110	.|0.923;1.0	D|D	0.99402|0.99402	1.0928|1.0928	6|10	.|0.35671	.|T	.|0.21	.|.	19.7654|19.7654	0.96337|0.96337	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|913;921	.|O94813-3;O94813	.|.;SLIT2_HUMAN	L|S	51|913;921;925;917;917;133	.|ENSP00000427548:P913S;ENSP00000422591:P921S;ENSP00000273739:P925S;ENSP00000422261:P917S;ENSP00000421975:P133S	.|ENSP00000273739:P925S	P|P	+|+	2|1	0|0	SLIT2|SLIT2	20178018|20178018	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.949000|0.949000	0.60115|0.60115	7.818000|7.818000	0.86416|0.86416	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	CCC|CCC	SLIT2	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000145147		0.363	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0	39	0	C			20568920	1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	T	T	20568920	C	T	20568920	3	4	183	1	0	0	0	0	1	0	0	0	14785	623	22	3	2867	3	SLIT2	4	20568920	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	19570776	20568920	170585356	63	45525											
PDS5A	23244	genome.wustl.edu	37	chr4	39918704	39918704	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgtggcatgacggataaTaataaatgaggatctatagc	15	10	11	5	1	1	2	0	2	1	0	1	4	1	4	0	3	2	2	0	3	6	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:39918704T>G	ENST00000303538.8	-	8	1379	c.840A>C	c.(838-840)ttA>ttC	p.L280F	PDS5A_ENST00000503396.1_Missense_Mutation_p.L280F	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						TGACGGATAATAATAAATGAG	0.333																																																	0													53	48	49					4																	39918704		1830	4082	5912	SO:0001583	missense	0			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.840A>C	4.37:g.39918704T>G	ENSP00000303427:p.Leu280Phe			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L280F	ENST00000303538.8	37	c.840	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	T	20.3	3.973615	0.74246	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T	0.66638	-0.22	5.71	-2.47	0.06442	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.78984	0.4370	M	0.80422	2.495	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.97110	0.986;1.0	T	0.79087	-0.1947	9	.	.	.	-7.9562	14.4591	0.67438	0.0:0.7839:0.0:0.2161	.	280;280	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	F	280	ENSP00000303427:L280F	.	L	-	3	2	PDS5A	39595099	1.000000	0.71417	0.941000	0.38009	0.988000	0.76386	0.883000	0.28200	-0.360000	0.08138	0.528000	0.53228	TTA	PDS5A	-	superfamily_ARM-type_fold	ENSG00000121892		0.333	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	-	0	48	0	T	NM_015200		39918704	-1	tier1	-	no_errors	ENST00000303538	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.984	G	G	39918704	T	G	39918704	3	3	183	1	0	0	0	0	1	0	0	0	11730	1403	49	4	3310	4	PDS5A	4	39918704	Missense_Mutation	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	19349784	39918704	151235572	64	45526											
C4orf14	84273	genome.wustl.edu	37	chr4	57834566	57834566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgcaggaaatctatgCggcctatagcacccaaaaac	14	8	7	12	1	1	0	0	0	1	0	1	1	1	1	3	2	5	2	3	2	7	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:57834566C>T	ENST00000264230.4	-	4	2868	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	544					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GAAATCTATGCGGCCTATAGC	0.353																																																	0													66	70	68					4																	57834566		2203	4300	6503	SO:0001583	missense	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1631G>A	4.37:g.57834566C>T	ENSP00000264230:p.Arg544His		Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R544H	ENST00000264230.4	37	c.1631	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693439	0.88735	.	.	ENSG00000084092	ENST00000264230	T	0.50277	0.75	5.93	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80589	-0.1315	10	0.87932	D	0	.	14.6581	0.68850	0.0:0.9296:0.0:0.0704	.	544	Q8NC60	CD014_HUMAN	H	544	ENSP00000264230:R544H	ENSP00000264230:R544H	R	-	2	0	C4orf14	57529323	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.337000	0.65941	1.506000	0.48736	0.563000	0.77884	CGC	NOA1	-	NULL	ENSG00000084092		0.353	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2	-	0	59	0	C	NM_032313		57834566	-1	tier1	-	no_errors	ENST00000264230	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	57834566	C	T	57834566	3	4	183	1	0	0	0	0	1	0	0	0	2258	768	27	1	481	1	C4orf14	4	57834566	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	17915862	57834566	133319710	65	45527											
UGT2B15	7367	genome.wustl.edu	37	chr4	69403558	69403558	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaatccagaagactgctcGatccaggggcttcaccggtt	9	9	10	13	2	2	2	2	0	0	2	5	3	4	2	3	3	1	3	3	3	2	2	rs267600213		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:69403558G>A	ENST00000317746.2	-	6	1420	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	460					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	AAGACTGCTCGATCCAGGGGC	0.428																																					Melanoma(18;649 833 28984 37818 38500)												0													105	102	103					4																	69403558		2094	3942	6036	SO:0001587	stop_gained	0			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1378C>T	4.37:g.69403558G>A	ENSP00000320401:p.Arg460*			Nonsense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R460*	ENST00000317746.2	37	c.1378	CCDS3523.1	4	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186817	0.38609	.	.	ENSG00000197888	ENST00000317746	.	.	.	2.85	0.823	0.18812	.	0.333144	0.25250	U	0.032028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3396	0.32235	0.0:0.0:0.3905:0.6095	.	.	.	.	X	460	.	ENSP00000320401:R460X	R	-	1	2	UGT2B17	69086153	0.992000	0.36948	0.198000	0.23420	0.206000	0.24218	0.893000	0.28336	0.009000	0.14813	0.195000	0.17529	CGA	UGT2B17	-	pfam_UDP_glucos_trans	ENSG00000197888		0.428	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	HGNC	protein_coding	OTTHUMT00000251436.1	-	0	71	0	G	NM_001077		69403558	-1	tier1	-	no_errors	ENST00000317746	ensembl	human	known	74_37	nonsense	68.18	14	30	SNP	0.229	A	A	69403558	G	A	69403558	4	1	183	1	0	0	0	0	0	1	0	0	17007	1066	37	1	218	1	UGT2B15	4	69403558	Nonsense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	11568992	69403558	121750718	66	45528											
ADAMTS3	9508	genome.wustl.edu	37	chr4	73188757	73188757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatcccagcattatcatgcGcaccaggaccacatttatat	13	11	5	12	1	1	0	1	0	0	0	2	1	2	1	3	1	2	2	3	1	4	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:73188757G>A	ENST00000286657.4	-	6	955	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	307	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)			ATTATCATGCGCACCAGGACC	0.363																																					NSCLC(168;1941 2048 2918 13048 43078)												0													184	184	184					4																	73188757		2203	4300	6503	SO:0001583	missense	0			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.919C>T	4.37:g.73188757G>A	ENSP00000286657:p.Arg307Cys		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R307C	ENST00000286657.4	37	c.919	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384852	0.82792	.	.	ENSG00000156140	ENST00000286657	D	0.87412	-2.25	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95198	0.8443	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95106	0.8234	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	307	O15072	ATS3_HUMAN	C	307	ENSP00000286657:R307C	ENSP00000286657:R307C	R	-	1	0	ADAMTS3	73407621	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.572000	0.53849	2.882000	0.98803	0.655000	0.94253	CGC	ADAMTS3	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000156140		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	-	0	40	0	G			73188757	-1	tier1	-	no_errors	ENST00000286657	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.995	A	A	73188757	G	A	73188757	3	1	183	1	0	0	0	0	1	0	0	0	267	1087	38	1	2766	1	ADAMTS3	4	73188757	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	3785199	73188757	117965519	67	45529											
CENPE	1062	genome.wustl.edu	37	chr4	104082532	104082532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gattttcacttctaagaaagGctgattctctcttggcatca	10	15	7	9	0	5	2	2	1	3	1	6	3	5	2	0	2	0	2	0	2	2	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:104082532G>A	ENST00000265148.3	-	19	2014	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	CENPE_ENST00000380026.3_Missense_Mutation_p.A617V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	642					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)		TCTAAGAAAGGCTGATTCTCT	0.353																																																	0													100	104	102					4																	104082532		2203	4300	6503	SO:0001583	missense	0			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.1925C>T	4.37:g.104082532G>A	ENSP00000265148:p.Ala642Val		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A642V	ENST00000265148.3	37	c.1925	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214015	0.79352	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.73681	0.58;-0.77;0.58	5.32	5.32	0.75619	.	.	.	.	.	D	0.85613	0.5737	M	0.68952	2.095	0.49915	D	0.999835	D;D	0.89917	0.999;1.0	D;D	0.83275	0.933;0.996	D	0.86139	0.1580	9	0.56958	D	0.05	.	19.0147	0.92889	0.0:0.0:1.0:0.0	.	617;642	Q02224-3;Q02224	.;CENPE_HUMAN	V	642;642;617;642	ENSP00000265148:A642V;ENSP00000369365:A617V;ENSP00000423981:A642V	ENSP00000265148:A642V	A	-	2	0	CENPE	104301981	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.352000	0.66028	2.493000	0.84123	0.585000	0.79938	GCC	CENPE	-	NULL	ENSG00000138778		0.353	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		-	0	50	0	G			104082532	-1	tier1	-	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	104082532	G	A	104082532	3	1	183	1	0	0	0	0	1	0	0	0	3237	1203	42	3	6304	3	CENPE	4	104082532	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	30893775	104082532	87071744	68	45530											
LARP7	51574	genome.wustl.edu	37	chr4	113570753	113570754	+	Frame_Shift_Ins	INS	-	-	A																															aaagctagcatggcttctttINSaaaaaaaacaatatcccaaa																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:113570753_113570754insA	ENST00000344442.5	+	9	1483_1484	c.1205_1206insA	c.(1204-1209)ttaaaafs	p.LK402fs	MIR302B_ENST00000362188.1_RNA|MIR302D_ENST00000362275.1_RNA|LARP7_ENST00000324052.6_Frame_Shift_Ins_p.LK402fs|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000509061.1_Frame_Shift_Ins_p.LK409fs|MIR302B_ENST00000509938.1_RNA|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	402					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)	p.T405fs*5(2)		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)		ATGGCTTCTTTAAAAAAAACAA	0.332																																																	2	Deletion - Frameshift(2)	large_intestine(1)|lung(1)																																								SO:0001589	frameshift_variant	0			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.1213dupA	4.37:g.113570761_113570761dupA	ENSP00000344950:p.Leu402fs		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Ins	INS	pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La	p.T405fs	ENST00000344442.5	37	c.1205_1206	CCDS3701.2	4																																																																																			LARP7	-	NULL	ENSG00000174720		0.332	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2		0	28	0	-	NM_016648		113570754	1	tier1		no_errors	ENST00000324052	ensembl	human	known	74_37	frame_shift_ins	6.45	29	2	INS	1.000:1.000	A	A	113570754	-	A	113570753	7	5	183	1	0	1	1	0	0	0	0	0	8661	1764	61	0	1235	0	LARP7	4	113570753	Frame_Shift_Ins	INS	-	TCGA-Z6-A9VB-01A-21D-A37C-09	9488221	113570753	77583523	69	45531											
INPP4B	8821	genome.wustl.edu	37	chr4	143326457	143326457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtttacgatcacggacagGagccacgagatccttgcatg	11	8	11	11	3	1	1	1	0	0	1	2	5	2	3	2	2	3	2	2	2	1	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:143326457G>T	ENST00000513000.1	-	7	590	c.157C>A	c.(157-159)Cct>Act	p.P53T	INPP4B_ENST00000509777.1_Missense_Mutation_p.P53T|INPP4B_ENST00000506217.1_Missense_Mutation_p.P53T|INPP4B_ENST00000262992.4_Missense_Mutation_p.P53T|INPP4B_ENST00000508116.1_Missense_Mutation_p.P53T|INPP4B_ENST00000308502.4_Missense_Mutation_p.P53T	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	53	C2.				cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.P53S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCACGGACAGGAGCCACGAGA	0.507																																																	1	Substitution - Missense(1)	skin(1)											101	89	93					4																	143326457		2203	4300	6503	SO:0001583	missense	0			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.157C>A	4.37:g.143326457G>T	ENSP00000425487:p.Pro53Thr		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_dom	p.P53T	ENST00000513000.1	37	c.157	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154635	0.57259	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000510812;ENST00000506217;ENST00000506788	T;T;T;T;T;T	0.33865	1.83;1.83;1.83;1.83;1.82;1.39	6.16	5.28	0.74379	C2 calcium/lipid-binding domain, CaLB (1);	0.145771	0.48767	D	0.000167	T	0.37073	0.0990	L	0.57536	1.79	0.28953	N	0.890319	B	0.30361	0.277	B	0.26864	0.074	T	0.41431	-0.9509	10	0.66056	D	0.02	.	16.2563	0.82519	0.0:0.2412:0.7588:0.0	.	53	O15327	INP4B_HUMAN	T	53	ENSP00000425487:P53T;ENSP00000262992:P53T;ENSP00000308441:P53T;ENSP00000423954:P53T;ENSP00000422793:P53T;ENSP00000427250:P53T	ENSP00000262992:P53T	P	-	1	0	INPP4B	143545907	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.057000	0.30492	2.937000	0.99478	0.650000	0.86243	CCT	INPP4B	-	superfamily_C2_dom	ENSG00000109452		0.507	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1		0	16	0	G	NM_003866		143326457	-1			no_errors	ENST00000509777	ensembl	human	known	74_37	missense	14.29	12	2	SNP	1.000	T	T	143326457	G	T	143326457	3	4	183	1	0	0	0	0	1	0	0	0	7780	1174	41	3	2701	3	INPP4B	4	143326457	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	29755704	143326457	47827819	70	45532											
GLRB	2743	genome.wustl.edu	37	chr4	158041816	158041816	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataagaccaaacttcaaaggTttgtctcccccatataaatg	15	11	5	10	0	2	1	1	0	1	1	3	1	2	1	3	1	1	1	3	1	6	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:158041816T>C	ENST00000264428.4	+	3	499		c.e3+2		GLRB_ENST00000509282.1_Splice_Site|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta						acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	ACTTCAAAGGTTTGTCTCCCC	0.338																																																	0													76	77	77					4																	158041816		2203	4300	6503	SO:0001630	splice_region_variant	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.229+2T>C	4.37:g.158041816T>C			A8K3K2|D3DP23|F5GWE1	Splice_Site	SNP	-	e2+2	ENST00000264428.4	37	c.229+2	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822961	0.71028	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7832	0.78281	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLRB	158261266	1.000000	0.71417	0.966000	0.40874	0.952000	0.60782	3.758000	0.55220	2.194000	0.70268	0.397000	0.26171	.	GLRB	-	-	ENSG00000109738		0.338	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	-	0	41	0	T	NM_000824	Intron	158041816	1	tier1	-	no_errors	ENST00000264428	ensembl	human	known	74_37	splice_site	8.51	43	4	SNP	1.000	C	C	158041816	T	C	158041816	5	2	183	1	0	0	0	0	0	0	1	0	6484	1739	60	4	237	4	GLRB	4	158041816	Splice_Site	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	14715359	158041816	33112460	71	45533											
MTNR1A	4543	genome.wustl.edu	37	chr4	187455431	187455431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcaggacggccgccagCgtcaggagccatatgaggag	9	5	17	10	3	1	1	1	1	0	0	1	4	1	4	3	5	2	1	3	5	1	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr4:187455431C>T	ENST00000307161.5	-	2	666	c.465G>A	c.(463-465)acG>acA	p.T155T	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	155					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CGGCCGCCAGCGTCAGGAGCC	0.592																																																	0													138	102	114					4																	187455431		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.465G>A	4.37:g.187455431C>T			A0AVC5|B0M0L2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C	p.T155	ENST00000307161.5	37	c.465	CCDS3848.1	4																																																																																			MTNR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000168412		0.592	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1A	HGNC	protein_coding	OTTHUMT00000360189.1	-	0	38	0	C			187455431	-1	tier1	-	no_errors	ENST00000307161	ensembl	human	known	74_37	silent	25.00	27	9	SNP	0.000	T	T	187455431	C	T	187455431	2	4	183	1	0	0	0	0	0	0	0	1	9989	755	27	1		1	MTNR1A	4	187455431	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	29413615	187455431	3698845	72	45534											
TRIO	7204	genome.wustl.edu	37	chr5	14406743	14406743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgatacgatttccatcGcctcacggacgtctcagaac	10	9	8	14	4	2	2	2	1	1	1	5	4	3	3	3	1	3	0	3	1	2	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:14406743G>A	ENST00000344204.4	+	33	4945	c.4921G>A	c.(4921-4923)Gcc>Acc	p.A1641T	TRIO_ENST00000537187.1_Missense_Mutation_p.A1641T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1641					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)					GATTTCCATCGCCTCACGGAC	0.567																																																	0													117	105	109					5																	14406743		2203	4300	6503	SO:0001583	missense	0			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.4921G>A	5.37:g.14406743G>A	ENSP00000339299:p.Ala1641Thr		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A1641T	ENST00000344204.4	37	c.4921	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258665	0.59321	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.22539	1.95;1.95	5.47	5.47	0.80525	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	L	0.47016	1.485	0.80722	D	1	P;B	0.44734	0.842;0.251	B;B	0.37387	0.248;0.028	T	0.01715	-1.1289	10	0.35671	T	0.21	.	19.3513	0.94387	0.0:0.0:1.0:0.0	.	1641;1641	O75962-5;O75962	.;TRIO_HUMAN	T	1641;1641;1328	ENSP00000339299:A1641T;ENSP00000446348:A1641T	ENSP00000339299:A1641T	A	+	1	0	TRIO	14459743	1.000000	0.71417	0.954000	0.39281	0.491000	0.33493	8.021000	0.88750	2.571000	0.86741	0.650000	0.86243	GCC	TRIO	-	superfamily_SH3_domain	ENSG00000038382		0.567	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	0	39	0	G	NM_007118		14406743	1	tier1	-	no_errors	ENST00000344204	ensembl	human	known	74_37	missense	42.31	15	11	SNP	1.000	A	A	14406743	G	A	14406743	3	1	183	1	0	0	0	0	1	0	0	0	16600	1087	38	1	5051	1	TRIO	5	14406743	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		14406743	166508517	73	45535											
PRDM9	56979	genome.wustl.edu	37	chr5	23522457	23522457	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatgtatagcctgcgaGaaagaaagggtcatgcatac	16	7	12	6	1	1	3	1	0	0	3	1	5	1	3	1	1	4	2	1	1	6	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:23522457G>T	ENST00000296682.3	+	7	735	c.553G>T	c.(553-555)Gaa>Taa	p.E185*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	185					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						TAGCCTGCGAGAAAGAAAGGG	0.463										HNSCC(3;0.000094)																																							0													165	170	169					5																	23522457		1935	4161	6096	SO:0001587	stop_gained	0			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.553G>T	5.37:g.23522457G>T	ENSP00000296682:p.Glu185*		B4DX22|Q27Q50	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E185*	ENST00000296682.3	37	c.553	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075697	0.76415	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.63	0.743	0.18347	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.3389	5.0967	0.14737	0.4152:0.0:0.5848:0.0	.	.	.	.	X	185	.	ENSP00000296682:E185X	E	+	1	0	PRDM9	23558214	0.917000	0.31117	0.117000	0.21633	0.015000	0.08874	0.721000	0.25911	0.301000	0.22738	-0.321000	0.08615	GAA	PRDM9	-	pfam_SSXRD_motif	ENSG00000164256		0.463	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	59	0	G	NM_020227		23522457	1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	nonsense	9.68	56	6	SNP	0.319	T	T	23522457	G	T	23522457	4	4	183	1	0	0	0	0	0	1	0	0	12505	943	33	3	575	3	PRDM9	5	23522457	Nonsense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	9115714	23522457	157392803	74	45536											
CDH9	1007	genome.wustl.edu	37	chr5	26906170	26906170	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacccatgtctttggcctGtataacaacctggtactgct	8	12	8	13	0	1	0	0	0	1	0	1	0	1	0	4	2	4	3	4	2	4	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:26906170G>A	ENST00000231021.4	-	5	881	c.709C>T	c.(709-711)Cag>Tag	p.Q237*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	237	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q237K(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTTTGGCCTGTATAACAACC	0.443																																					Melanoma(8;187 585 15745 40864 52829)												1	Substitution - Missense(1)	lung(1)											242	215	224					5																	26906170		2203	4300	6503	SO:0001587	stop_gained	0			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.709C>T	5.37:g.26906170G>A	ENSP00000231021:p.Gln237*		Q3B7I5	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q237*	ENST00000231021.4	37	c.709	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.454144	0.97581	.	.	ENSG00000113100	ENST00000231021	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5289	0.90984	0.0:0.0:1.0:0.0	.	.	.	.	X	237	.	.	Q	-	1	0	CDH9	26941927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	2.802000	0.96397	0.650000	0.86243	CAG	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113100		0.443	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0	60	0	G	NM_016279		26906170	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	nonsense	7.46	60	5	SNP	1.000	A	A	26906170	G	A	26906170	4	1	183	1	0	0	0	0	0	1	0	0	3124	1386	48	3	1692	3	CDH9	5	26906170	Nonsense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	3383713	26906170	154009090	75	45537											
SPEF2	79925	genome.wustl.edu	37	chr5	35700690	35700690	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagctcttacaggctgcaAtagaaacctcacagaagtgg	15	7	10	9	0	2	3	1	0	1	3	2	3	2	3	1	2	4	3	1	2	6	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:35700690A>T	ENST00000356031.3	+	16	2388	c.2234A>T	c.(2233-2235)aAt>aTt	p.N745I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.N740I|SPEF2_ENST00000440995.2_Missense_Mutation_p.N740I	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	745					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)			ACAGGCTGCAATAGAAACCTC	0.403																																																	0													93	84	87					5																	35700690		1822	4074	5896	SO:0001583	missense	0			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.2234A>T	5.37:g.35700690A>T	ENSP00000348314:p.Asn745Ile		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.N745I	ENST00000356031.3	37	c.2234	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	A	6.647	0.487885	0.12641	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.79	3.38	0.38709	.	0.644230	0.15762	N	0.245900	T	0.73393	0.3581	M	0.64404	1.975	0.09310	N	0.999997	P;P;P	0.45634	0.863;0.73;0.772	P;B;B	0.47206	0.541;0.178;0.272	T	0.62932	-0.6749	10	0.48119	T	0.1	.	7.1614	0.25667	0.7777:0.1475:0.0748:0.0	.	740;740;745	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	I	745;740;740;251	ENSP00000348314:N745I;ENSP00000421593:N740I;ENSP00000412125:N740I;ENSP00000421744:N251I	ENSP00000348314:N745I	N	+	2	0	SPEF2	35736447	0.977000	0.34250	0.002000	0.10522	0.011000	0.07611	1.687000	0.37680	0.444000	0.26612	0.533000	0.62120	AAT	SPEF2	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase	ENSG00000152582		0.403	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	34	0	A	NM_144722		35700690	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.005	T	T	35700690	A	T	35700690	3	4	183	1	0	0	0	0	1	0	0	0	15082	101	4	5	2317	5	SPEF2	5	35700690	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	8794520	35700690	145214570	76	45538											
MEF2C	4208	genome.wustl.edu	37	chr5	88027605	88027605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactcggagatctggtttacGgttattcattcctaaattca	11	15	7	8	2	3	1	2	0	1	1	5	2	4	1	1	3	2	2	1	3	5	7			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:88027605G>T	ENST00000437473.2	-	7	1168	c.751C>A	c.(751-753)Cgt>Agt	p.R251S	MEF2C_ENST00000539796.1_Missense_Mutation_p.R203S|MEF2C_ENST00000504921.2_Missense_Mutation_p.R251S|MEF2C_ENST00000510942.1_Missense_Mutation_p.R251S|MEF2C_ENST00000340208.5_Missense_Mutation_p.R269S|MEF2C_ENST00000514028.1_Missense_Mutation_p.R251S|MEF2C_ENST00000506554.1_Missense_Mutation_p.R251S|MEF2C_ENST00000514015.1_Missense_Mutation_p.R251S|MEF2C_ENST00000508569.1_Missense_Mutation_p.R251S|MEF2C_ENST00000424173.2_Missense_Mutation_p.R249S|MEF2C_ENST00000503554.1_5'Flank	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	251					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)		TCTGGTTTACGGTTATTCATT	0.393										HNSCC(66;0.2)																																							0													106	103	104					5																	88027605		1846	4090	5936	SO:0001583	missense	0			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.751C>A	5.37:g.88027605G>T	ENSP00000396219:p.Arg251Ser		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.R251S	ENST00000437473.2	37	c.751	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.454238	0.96223	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	M	0.80183	2.485	0.80722	D	1	P;P;D;D	0.76494	0.637;0.936;0.997;0.999	B;P;D;D	0.75020	0.388;0.754;0.985;0.952	T	0.66642	-0.5872	10	0.72032	D	0.01	-5.019	20.5666	0.99351	0.0:0.0:1.0:0.0	.	249;269;251;251	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	S	269;249;251;251;251;251;251;251;251;203	ENSP00000340874:R269S;ENSP00000389610:R249S;ENSP00000421925:R251S;ENSP00000426665:R251S;ENSP00000396219:R251S;ENSP00000422390:R251S;ENSP00000425636:R251S;ENSP00000423597:R251S;ENSP00000424606:R251S;ENSP00000441153:R203S	ENSP00000340874:R269S	R	-	1	0	MEF2C	88063361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.854000	0.98071	0.655000	0.94253	CGT	MEF2C	-	NULL	ENSG00000081189		0.393	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	-	0	67	0	G	NM_002397		88027605	-1	tier1	-	no_errors	ENST00000437473	ensembl	human	known	74_37	missense	51.52	16	17	SNP	1.000	T	T	88027605	G	T	88027605	3	4	183	1	0	0	0	0	1	0	0	0	9495	1116	39	2	690	2	MEF2C	5	88027605	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	52326915	88027605	92887655	77	45539											
ADRA1B	147	genome.wustl.edu	37	chr5	159344142	159344142	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcaaccggcacctgcGgacgcccaccaactacttca	9	5	9	18	3	1	0	1	0	0	0	1	1	1	1	5	3	5	2	5	3	3	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:159344142G>T	ENST00000306675.3	+	1	353	c.230G>T	c.(229-231)cGg>cTg	p.R77L		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	77					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CGGCACCTGCGGACGCCCACC	0.612																																																	0													108	103	105					5																	159344142		2203	4300	6503	SO:0001583	missense	0			L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"GPCR / Class A : Adrenoceptors : alpha"	278	protein-coding gene	gene with protein product		104220	"adrenergic, alpha-1B-, receptor"				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.230G>T	5.37:g.159344142G>T	ENSP00000306662:p.Arg77Leu		B0LPE1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.R77L	ENST00000306675.3	37	c.230	CCDS4347.1	5	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935424	0.73442	.	.	ENSG00000170214	ENST00000306675	T	0.42513	0.97	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	M	0.93720	3.45	0.48288	D	0.999624	D	0.76494	0.999	D	0.77557	0.99	T	0.77446	-0.2585	10	0.87932	D	0	.	10.9836	0.47510	0.0872:0.0:0.9128:0.0	.	77	P35368	ADA1B_HUMAN	L	77	ENSP00000306662:R77L	ENSP00000306662:R77L	R	+	2	0	ADRA1B	159276720	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.783000	0.75078	2.536000	0.85505	0.462000	0.41574	CGG	ADRA1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000170214		0.612	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1B	HGNC	protein_coding	OTTHUMT00000252676.1	-	0	30	0	G			159344142	1	tier1	-	no_errors	ENST00000306675	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	159344142	G	T	159344142	3	4	183	1	0	0	0	0	1	0	0	0	335	1116	39	2	232	2	ADRA1B	5	159344142	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	71316537	159344142	21571118	78	45540											
TMED9	54732	genome.wustl.edu	37	chr5	177022337	177022337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggtggtccattctgCagaccctcatcctcgtggcc	4	12	11	14	1	2	1	1	0	1	1	5	1	4	1	4	3	2	2	4	3	0	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:177022337C>A	ENST00000332598.6	+	5	685	c.628C>A	c.(628-630)Cag>Aag	p.Q210K		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	210					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	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)			GTCCATTCTGCAGACCCTCAT	0.587																																																	0													79	75	76					5																	177022337		2203	4300	6503	SO:0001583	missense	0			AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.628C>A	5.37:g.177022337C>A	ENSP00000330945:p.Gln210Lys		Q14437|Q8WZ61	Missense_Mutation	SNP	pfam_GOLD,pfscan_GOLD	p.Q210K	ENST00000332598.6	37	c.628	CCDS4428.1	5	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977902	0.92982	.	.	ENSG00000184840	ENST00000332598	T	0.19669	2.13	5.26	5.26	0.73747	GOLD (1);	0.118324	0.64402	D	0.000013	T	0.58736	0.2143	H	0.95328	3.655	0.80722	D	1	P	0.50272	0.933	D	0.64687	0.928	T	0.71427	-0.4596	10	0.72032	D	0.01	-20.0628	16.3608	0.83267	0.0:1.0:0.0:0.0	.	210	Q9BVK6	TMED9_HUMAN	K	210	ENSP00000330945:Q210K	ENSP00000330945:Q210K	Q	+	1	0	TMED9	176954943	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.861000	0.69553	2.449000	0.82847	0.561000	0.74099	CAG	TMED9	-	pfam_GOLD	ENSG00000184840		0.587	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED9	HGNC	protein_coding	OTTHUMT00000253433.1	-	0	47	0	C	NM_017510		177022337	1	tier1	-	no_errors	ENST00000332598	ensembl	human	known	74_37	missense	68.00	8	17	SNP	1.000	A	A	177022337	C	A	177022337	3	1	183	1	0	0	0	0	1	0	0	0	16059	711	25	3	646	3	TMED9	5	177022337	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	17678195	177022337	3892923	79	45541											
OR2V2	285659	genome.wustl.edu	37	chr5	180582374	180582374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcagagggtctgtctccaGattactgggagctcctgggc	8	10	13	10	0	3	2	1	0	2	2	5	3	4	3	2	3	2	1	2	3	2	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr5:180582374G>C	ENST00000328275.1	+	1	432	c.432G>C	c.(430-432)caG>caC	p.Q144H		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGTCTCCAGATTACTGGGA	0.512																																																	0													119	116	117					5																	180582374		2203	4300	6503	SO:0001583	missense	0			AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.432G>C	5.37:g.180582374G>C	ENSP00000332185:p.Gln144His		Q6IFL6|Q8NGV1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q144H	ENST00000328275.1	37	c.432	CCDS4461.1	5	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081498	0.36758	.	.	ENSG00000182613	ENST00000328275	T	0.00137	8.68	3.27	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.531889	0.14210	N	0.334106	T	0.00241	0.0007	L	0.31926	0.97	0.31986	N	0.605239	D	0.53462	0.96	P	0.59546	0.859	T	0.65738	-0.6095	10	0.52906	T	0.07	.	8.6206	0.33859	0.1205:0.0:0.8795:0.0	.	144	Q96R30	OR2V2_HUMAN	H	144	ENSP00000332185:Q144H	ENSP00000332185:Q144H	Q	+	3	2	OR2V2	180514980	0.002000	0.14202	0.945000	0.38365	0.592000	0.36648	1.117000	0.31234	0.700000	0.31782	-0.680000	0.03767	CAG	OR2V2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182613		0.512	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2V2	HGNC	protein_coding	OTTHUMT00000253529.1	-	0	85	0	G			180582374	1	tier1	-	no_errors	ENST00000328275	ensembl	human	known	74_37	missense	13.95	37	6	SNP	0.936	C	C	180582374	G	C	180582374	3	2	183	1	0	0	0	0	1	0	0	0	11070	933	33	5	434	5	OR2V2	5	180582374	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	3560037	180582374	332886	80	45542											
FAM65B	9750	genome.wustl.edu	37	chr6	24843674	24843674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggggagcctgttgagtGggaggtgagggcgcagtccc	7	6	21	7	1	0	2	0	2	0	0	1	5	1	5	2	6	1	2	2	6	1	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:24843674G>T	ENST00000259698.4	-	14	1511	c.1336C>A	c.(1336-1338)Cac>Aac	p.H446N	FAM65B_ENST00000538035.1_Missense_Mutation_p.H425N|FAM65B_ENST00000510784.2_Missense_Mutation_p.H430N|FAM65B_ENST00000540914.1_Missense_Mutation_p.H396N|FAM65B_ENST00000378023.4_Missense_Mutation_p.H396N|FAM65B_ENST00000473070.1_5'Flank	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	446					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						CCTGTTGAGTGGGAGGTGAGG	0.537																																																	0													80	81	81					6																	24843674		2002	4163	6165	SO:0001583	missense	0			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.1336C>A	6.37:g.24843674G>T	ENSP00000259698:p.His446Asn		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H446N	ENST00000259698.4	37	c.1336	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	G	9.296	1.051750	0.19827	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	4.79	-2.42	0.06542	.	0.804958	0.11968	N	0.512055	T	0.02767	0.0083	N	0.03608	-0.345	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	0.43686	-0.9376	10	0.18276	T	0.48	-0.299	5.2554	0.15544	0.0:0.2386:0.2749:0.4864	.	430;425;396;446	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	N	446;425;396;396;430	ENSP00000259698:H446N;ENSP00000441138:H425N;ENSP00000367262:H396N;ENSP00000438425:H396N;ENSP00000441305:H430N	ENSP00000259698:H446N	H	-	1	0	FAM65B	24951653	0.032000	0.19561	0.000000	0.03702	0.307000	0.27823	0.220000	0.17660	-0.781000	0.04548	0.313000	0.20887	CAC	FAM65B	-	NULL	ENSG00000111913		0.537	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	-	0	81	0	G			24843674	-1	tier1	-	no_errors	ENST00000259698	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.003	T	T	24843674	G	T	24843674	3	4	183	1	0	0	0	0	1	0	0	0	5622	1348	47	3	1920	3	FAM65B	6	24843674	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		24843674	146271393	81	45543											
OR2W1	26692	genome.wustl.edu	37	chr6	29012060	29012060	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtttcttcagggcatccTtcatgtccttatttcttaag	7	18	6	10	0	5	0	3	0	2	0	7	0	7	0	2	1	0	2	2	1	2	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:29012060T>A	ENST00000377175.1	-	1	957	c.893A>T	c.(892-894)aAg>aTg	p.K298M		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	298						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						CAGGGCATCCTTCATGTCCTT	0.403																																																	0													51	47	48					6																	29012060		1511	2709	4220	SO:0001583	missense	0			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.893A>T	6.37:g.29012060T>A	ENSP00000366380:p.Lys298Met		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K298M	ENST00000377175.1	37	c.893	CCDS4656.1	6	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177307	0.57692	.	.	ENSG00000204704	ENST00000377175	T	0.40756	1.02	4.79	4.79	0.61399	.	0.000000	0.53938	D	0.000056	T	0.42743	0.1216	L	0.46614	1.455	0.34620	D	0.718534	D	0.89917	1.0	D	0.72075	0.976	T	0.52609	-0.8553	10	0.87932	D	0	.	8.693	0.34278	0.0:0.092:0.0:0.908	.	298	Q9Y3N9	OR2W1_HUMAN	M	298	ENSP00000366380:K298M	ENSP00000366380:K298M	K	-	2	0	OR2W1	29120039	0.001000	0.12720	1.000000	0.80357	0.971000	0.66376	0.782000	0.26788	1.766000	0.52107	0.482000	0.46254	AAG	OR2W1	-	pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn	ENSG00000204704		0.403	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W1	HGNC	protein_coding	OTTHUMT00000076053.2	-	0	35	0	T			29012060	-1	tier1	-	no_errors	ENST00000377175	ensembl	human	known	74_37	missense	33.33	27	14	SNP	0.888	A	A	29012060	T	A	29012060	3	1	183	1	0	0	0	0	1	0	0	0	11071	1609	56	5	73	5	OR2W1	6	29012060	Missense_Mutation	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	4168386	29012060	142103007	82	45544											
COL11A2	1302	genome.wustl.edu	37	chr6	33138676	33138676	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggggtccccgagctcCgggctccccatctgctccct	2	9	10	20	2	1	0	0	0	1	0	6	1	6	0	7	3	2	3	7	3	0	0	rs550153707		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:33138676C>A	ENST00000374708.4	-	44	3385	c.3127G>T	c.(3127-3129)Gga>Tga	p.G1043*	COL11A2_ENST00000395197.1_Nonsense_Mutation_p.G1069*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.G1103*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.G1048*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.G1082*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.G1108*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.G1022*|COL11A2_ENST00000341947.2_Nonsense_Mutation_p.G1129*	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1129	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)	p.G1129R(1)		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						CCCCGAGCTCCGGGCTCCCCA	0.577																																					Melanoma(1;90 116 3946 5341 17093)												1	Substitution - Missense(1)	prostate(1)											68	75	72					6																	33138676		1510	2709	4219	SO:0001587	stop_gained	0			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.3127G>T	6.37:g.33138676C>A	ENSP00000363840:p.Gly1043*		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1129*	ENST00000374708.4	37	c.3385	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	C	44	10.901137	0.99485	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	.	.	.	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5206	0.75862	0.0:1.0:0.0:0.0	.	.	.	.	X	1043;1129;1108;1103;1082;1069;1048;1022	.	ENSP00000339915:G1129X	G	-	1	0	COL11A2	33246654	1.000000	0.71417	0.985000	0.45067	0.842000	0.47809	7.266000	0.78452	2.510000	0.84645	0.551000	0.68910	GGA	COL11A2	-	pfam_Collagen	ENSG00000204248		0.577	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2		0	51	0	C			33138676	-1			no_errors	ENST00000341947	ensembl	human	known	74_37	nonsense	7.41	25	2	SNP	0.999	A	A	33138676	C	A	33138676	4	1	183	1	0	0	0	0	0	1	0	0	3675	661	23	2	1909	2	COL11A2	6	33138676	Nonsense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	4126616	33138676	137976391	83	45545											
C6orf89	221477	genome.wustl.edu	37	chr6	36884310	36884310	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagatgcctctttaaacaAgtgctcctttcttcacccag	12	12	5	12	0	3	1	1	0	2	1	4	1	4	1	3	0	3	1	3	0	5	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:36884310A>T	ENST00000480824.2	+	7	1079	c.785A>T	c.(784-786)aAg>aTg	p.K262M	C6orf89_ENST00000359359.2_Missense_Mutation_p.K156M|C6orf89_ENST00000355190.3_Missense_Mutation_p.K269M|C6orf89_ENST00000373685.1_Missense_Mutation_p.K262M|C6orf89_ENST00000510325.2_Missense_Mutation_p.K156M			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	262					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)		p.K269M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TCTTTAAACAAGTGCTCCTTT	0.423																																																	1	Substitution - Missense(1)	breast(1)											106	100	102					6																	36884310		2203	4300	6503	SO:0001583	missense	0			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.785A>T	6.37:g.36884310A>T	ENSP00000475947:p.Lys262Met		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	NULL	p.K269M	ENST00000480824.2	37	c.806		6	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349638	0.82132	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	6.17	3.68	0.42216	.	0.277274	0.41823	D	0.000806	T	0.47948	0.1473	L	0.57536	1.79	0.34955	D	0.751571	D;D	0.67145	0.996;0.996	P;P	0.59288	0.855;0.855	T	0.57596	-0.7784	9	0.72032	D	0.01	12.3107	4.7943	0.13265	0.71:0.1936:0.0964:0.0	.	262;269	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	M	156;156;269;262	.	ENSP00000347322:K269M	K	+	2	0	C6orf89	36992288	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.238000	0.32707	2.371000	0.80710	0.533000	0.62120	AAG	C6orf89	-	NULL	ENSG00000198663		0.423	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	HGNC	protein_coding	OTTHUMT00000040387.2		0	66	0	A	NM_152734		36884310	1			no_errors	ENST00000355190	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	36884310	A	T	36884310	3	4	183	1	0	0	0	0	1	0	0	0	2380	72	3	5	828	5	C6orf89	6	36884310	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	3745634	36884310	134230757	84	45546											
RFX6	222546	genome.wustl.edu	37	chr6	117245835	117245835	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccatccataaacaaggttCttttcatttgattcgaatgc	11	15	5	10	1	2	1	1	1	1	0	5	2	4	1	2	1	2	1	2	1	4	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:117245835C>G	ENST00000332958.2	+	15	1575	c.1559C>G	c.(1558-1560)tCt>tGt	p.S520C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	520					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)	p.S520Y(1)		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						AAACAAGGTTCTTTTCATTTG	0.393																																																	1	Substitution - Missense(1)	large_intestine(1)											131	127	128					6																	117245835		2203	4300	6503	SO:0001583	missense	0			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.1559C>G	6.37:g.117245835C>G	ENSP00000332208:p.Ser520Cys		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.S520C	ENST00000332958.2	37	c.1559	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344418	0.82022	.	.	ENSG00000185002	ENST00000332958	T	0.64991	-0.13	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.82544	-0.0404	10	0.87932	D	0	-18.9274	19.3617	0.94442	0.0:1.0:0.0:0.0	.	520	Q8HWS3	RFX6_HUMAN	C	520	ENSP00000332208:S520C	ENSP00000332208:S520C	S	+	2	0	RFX6	117352528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.398000	0.79919	2.646000	0.89796	0.655000	0.94253	TCT	RFX6	-	NULL	ENSG00000185002		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	-	0	50	0	C	NM_173560		117245835	1	tier1	-	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	28.26	32	13	SNP	1.000	G	G	117245835	C	G	117245835	3	3	183	1	0	0	0	0	1	0	0	0	13312	913	32	5	1617	5	RFX6	6	117245835	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	80361525	117245835	53869232	85	45547											
ARG1	383	genome.wustl.edu	37	chr6	131905028	131905028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatcacaagcctattgacTaccttaacccacctaagtaa	15	10	4	12	0	1	1	1	1	0	0	1	1	1	1	4	0	3	2	4	0	7	7			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr6:131905028T>C	ENST00000368087.3	+	8	1088	c.949T>C	c.(949-951)Tac>Cac	p.Y317H	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.Y325H|MED23_ENST00000479213.1_5'Flank			P05089	ARGI1_HUMAN	arginase 1	317					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)	GCCTATTGACTACCTTAACCC	0.393																																																	0													123	107	112					6																	131905028		2203	4300	6503	SO:0001583	missense	0				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.949T>C	6.37:g.131905028T>C	ENSP00000357066:p.Tyr317His		A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	p.Y325H	ENST00000368087.3	37	c.973	CCDS5145.1	6	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114800	0.56505	.	.	ENSG00000118520	ENST00000368087;ENST00000356962;ENST00000476845	D;D;D	0.92397	-2.04;-3.03;-2.33	5.71	5.71	0.89125	.	0.681002	0.14784	N	0.298632	T	0.81375	0.4809	L	0.33485	1.01	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.74685	-0.3582	10	0.23302	T	0.38	-16.4656	13.8024	0.63208	0.0:0.0:0.0:1.0	.	325;317	P05089-2;P05089	.;ARGI1_HUMAN	H	317;325;231	ENSP00000357066:Y317H;ENSP00000349446:Y325H;ENSP00000417694:Y231H	ENSP00000349446:Y325H	Y	+	1	0	ARG1	131946721	0.226000	0.23696	0.988000	0.46212	0.974000	0.67602	0.707000	0.25704	2.307000	0.77673	0.528000	0.53228	TAC	ARG1	-	NULL	ENSG00000118520		0.393	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG1	HGNC	protein_coding	OTTHUMT00000042223.1		0	19	0	T			131905028	1			no_errors	ENST00000356962	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.996	C	C	131905028	T	C	131905028	3	2	183	1	0	0	0	0	1	0	0	0	857	1522	53	4	979	4	ARG1	6	131905028	Missense_Mutation	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	14659193	131905028	39210039	86	45548											
CYP2W1	54905	genome.wustl.edu	37	chr7	1024091	1024091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaccgtgcacctggggcGccagaagacggtggtgctga	7	7	16	11	3	1	3	1	1	0	2	1	3	1	3	3	4	2	3	3	4	1	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:1024091G>A	ENST00000308919.7	+	2	231	c.218G>A	c.(217-219)cGc>cAc	p.R73H	CYP2W1_ENST00000340150.6_Missense_Mutation_p.R17H	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	73					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)		CACCTGGGGCGCCAGAAGACG	0.706																																																	0													14	16	15					7																	1024091		2062	4085	6147	SO:0001583	missense	0			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.218G>A	7.37:g.1024091G>A	ENSP00000310149:p.Arg73His			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R73H	ENST00000308919.7	37	c.218	CCDS5319.2	7	.	.	.	.	.	.	.	.	.	.	G	5.097	0.203537	0.09704	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.68025	-0.3;-0.3	5.45	-10.9	0.00192	.	1.697930	0.03075	N	0.157644	T	0.37865	0.1019	N	0.16790	0.44	0.09310	N	1	B;B	0.15719	0.012;0.014	B;B	0.15484	0.013;0.009	T	0.24799	-1.0150	10	0.14656	T	0.56	.	2.0541	0.03577	0.1971:0.2665:0.0975:0.4389	.	17;73	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	H	73;17	ENSP00000310149:R73H;ENSP00000344178:R17H	ENSP00000310149:R73H	R	+	2	0	CYP2W1	990617	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-2.096000	0.01349	-2.795000	0.00354	0.478000	0.44815	CGC	CYP2W1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000073067		0.706	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2W1	HGNC	protein_coding	OTTHUMT00000157249.1	-	0	26	0	G	NM_017781		1024091	1	tier1	-	no_errors	ENST00000308919	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.000	A	A	1024091	G	A	1024091	3	1	183	1	0	0	0	0	1	0	0	0	4185	1087	38	1	224	1	CYP2W1	7	1024091	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		1024091	158114572	87	45549											
PMS2	5395	genome.wustl.edu	37	chr7	6035230	6035230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgttgaactccttccaaCtccatgcgtgcattgtgaaa	9	13	8	11	1	1	2	0	2	1	0	4	2	4	2	3	0	4	2	3	0	3	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:6035230C>G	ENST00000265849.7	-	8	943	c.838G>C	c.(838-840)Gtt>Ctt	p.V280L	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.V174L|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.V280L	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	280					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCCTTCCAACTCCATGCGTG	0.388			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													138	123	128					7																	6035230		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.838G>C	7.37:g.6035230C>G	ENSP00000265849:p.Val280Leu		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.V280L	ENST00000265849.7	37	c.838	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	c	11.58	1.679817	0.29783	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.83506	-1.73;-1.73;-1.73	5.85	4.04	0.47022	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);	0.291939	0.32343	N	0.006232	T	0.73016	0.3533	L	0.39245	1.2	0.42178	D	0.991671	B;B;B	0.10296	0.0;0.003;0.003	B;B;B	0.06405	0.001;0.002;0.002	T	0.63844	-0.6545	10	0.25106	T	0.35	-12.255	8.0336	0.30480	0.1315:0.7334:0.0:0.135	.	280;280;174	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	L	280;233;174;280	ENSP00000265849:V280L;ENSP00000392843:V174L;ENSP00000384308:V280L	ENSP00000265849:V280L	V	-	1	0	PMS2	6001756	0.584000	0.26766	0.718000	0.30602	0.300000	0.27592	1.852000	0.39348	0.814000	0.34374	-0.188000	0.12872	GTT	PMS2	-	pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N	ENSG00000122512		0.388	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	-	0	47	0	C	NM_000535		6035230	-1	tier1	-	no_errors	ENST00000265849	ensembl	human	known	74_37	missense	50.00	15	15	SNP	0.996	G	G	6035230	C	G	6035230	3	3	183	1	0	0	0	0	1	0	0	0	12182	565	20	5	1782	5	PMS2	7	6035230	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	5011139	6035230	153103433	88	45550											
DNAH11	8701	genome.wustl.edu	37	chr7	21657235	21657235	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttcctccacttttctttAggaaatttggtcactcaaca	9	18	4	10	0	3	0	2	0	1	0	5	1	5	1	2	2	1	0	2	2	3	7			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:21657235A>G	ENST00000409508.3	+	23	4126		c.e23-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						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						ACTTTTCTTTAGGAAATTTGG	0.438									Kartagener syndrome																																								0													56	52	53					7																	21657235		1844	4096	5940	SO:0001630	splice_region_variant	0	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.4096-1A>G	7.37:g.21657235A>G			Q9UJ82	Splice_Site	SNP	-	e23-2	ENST00000409508.3	37	c.4111-2		7	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660320	0.29515	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5509	0.68065	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21623760	1.000000	0.71417	0.975000	0.42487	0.105000	0.19272	8.585000	0.90802	2.083000	0.62718	0.421000	0.28195	.	DNAH11	-	-	ENSG00000105877		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	40	0	A	NM_003777	Intron	21657235	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	splice_site	8.89	41	4	SNP	1.000	G	G	21657235	A	G	21657235	5	3	183	1	0	0	0	0	0	0	1	0	4613	434	15	4	4199	4	DNAH11	7	21657235	Splice_Site	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	15622005	21657235	137481428	89	45551											
CDCA7L	55536	genome.wustl.edu	37	chr7	21945956	21945956	+	Frame_Shift_Del	DEL	G	G	-																															aaaactcttccgcaaatttaGcggctgagacagtgaagttc																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:21945956delG	ENST00000406877.3	-	6	1151	c.872delC	c.(871-873)gctfs	p.A291fs	CDCA7L_ENST00000373934.4_Frame_Shift_Del_p.A245fs|CDCA7L_ENST00000356195.5_Frame_Shift_Del_p.A257fs|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	291					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CGCAAATTTAGCGGCTGAGAC	0.498																																																	0													80	89	86					7																	21945956		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.872delC	7.37:g.21945956delG	ENSP00000383986:p.Ala291fs		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Frame_Shift_Del	DEL	pfam_Znf-4CXXC_R1	p.A291fs	ENST00000406877.3	37	c.872	CCDS5374.1	7																																																																																			CDCA7L	-	NULL	ENSG00000164649		0.498	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4		0	59	0	G	NM_018719		21945956	-1	tier1		no_errors	ENST00000406877	ensembl	human	known	74_37	frame_shift_del	28.30	38	15	DEL	0.132	-	-	21945956	G	-	21945956	7	5	183	1	0	1	0	1	0	0	0	0	3098	971	34	0	512	0	CDCA7L	7	21945956	Frame_Shift_Del	DEL	G	TCGA-Z6-A9VB-01A-21D-A37C-09	288721	21945956	137192707	90	45552											
SLC25A40	55972	genome.wustl.edu	37	chr7	87476367	87476367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaatcgatgcagttccacGtaagaaaacttcttggactg	14	10	8	9	2	1	1	0	0	1	1	3	3	2	2	1	1	2	3	1	1	4	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:87476367G>A	ENST00000341119.5	-	8	874	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	176					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)					GCAGTTCCACGTAAGAAAACT	0.393																																																	0													151	156	154					7																	87476367		2203	4300	6503	SO:0001819	synonymous_variant	0			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.528C>T	7.37:g.87476367G>A			A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Y176	ENST00000341119.5	37	c.528	CCDS5610.1	7																																																																																			SLC25A40	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000075303		0.393	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A40	HGNC	protein_coding	OTTHUMT00000253677.5	-	0	42	0	G	NM_018843		87476367	-1	tier1	-	no_errors	ENST00000341119	ensembl	human	known	74_37	silent	27.27	24	9	SNP	1.000	A	A	87476367	G	A	87476367	2	1	183	1	0	0	0	0	0	0	0	1	14550	1140	40	1		1	SLC25A40	7	87476367	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	65530411	87476367	71662296	91	45553											
GRM8	2918	genome.wustl.edu	37	chr7	126173579	126173579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcacgtaactaagttcGcgtcctgaagccctcacgat	11	8	10	12	4	1	1	1	1	0	0	3	3	2	2	2	1	3	3	2	1	3	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:126173579G>A	ENST00000339582.2	-	9	2665	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_ENST00000444921.2_Silent_p.R619R|GRM8_ENST00000358373.3_Silent_p.R619R|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	619					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R619R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AACTAAGTTCGCGTCCTGAAG	0.458										HNSCC(24;0.065)																																							1	Substitution - coding silent(1)	large_intestine(1)											114	110	112					7																	126173579		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1857C>T	7.37:g.126173579G>A			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.R619	ENST00000339582.2	37	c.1857	CCDS5794.1	7																																																																																			GRM8	-	pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C	ENSG00000179603		0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0	25	0	G			126173579	-1			no_errors	ENST00000339582	ensembl	human	known	74_37	silent	28.57	10	4	SNP	0.050	A	A	126173579	G	A	126173579	2	1	183	1	0	0	0	0	0	0	0	1	6830	1074	38	1		1	GRM8	7	126173579	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	38697212	126173579	32965084	92	45554											
UBE2H	7328	genome.wustl.edu	37	chr7	129498753	129498753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttacttacgcttcatcaatGttgggatggaaaattttatt	11	17	8	5	1	2	0	2	0	0	0	2	2	2	2	0	2	2	3	0	2	6	7			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:129498753G>T	ENST00000355621.3	-	4	627	c.234C>A	c.(232-234)aaC>aaA	p.N78K	UBE2H_ENST00000473814.2_Intron	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	78					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CTTCATCAATGTTGGGATGGA	0.308																																																	0													74	74	74					7																	129498753		2202	4299	6501	SO:0001583	missense	0			BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12484	protein-coding gene	gene with protein product	"GID complex subunit 3, UBC8 homolog (S. cerevisiae)"	601082	"ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)", "ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.234C>A	7.37:g.129498753G>T	ENSP00000347836:p.Asn78Lys		A4D1L6|C9JY93|P37286|Q7Z6F4	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.N78K	ENST00000355621.3	37	c.234	CCDS5814.1	7	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667031	0.67814	.	.	ENSG00000186591	ENST00000355621;ENST00000496698;ENST00000472396;ENST00000490974	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.4	5.4	0.78164	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	H	0.99847	4.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88974	0.3403	10	0.87932	D	0	-14.2633	10.4802	0.44689	0.0888:0.0:0.9112:0.0	.	78	P62256	UBE2H_HUMAN	K	78;45;78;94	ENSP00000347836:N78K;ENSP00000417681:N45K;ENSP00000419689:N78K;ENSP00000419750:N94K	ENSP00000347836:N78K	N	-	3	2	UBE2H	129285989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.340000	0.59328	2.693000	0.91896	0.650000	0.86243	AAC	UBE2H	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000186591		0.308	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2H	HGNC	protein_coding	OTTHUMT00000349327.2	-	0	42	0	G	NM_003344		129498753	-1	tier1	-	no_errors	ENST00000355621	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	129498753	G	T	129498753	3	4	183	1	0	0	0	0	1	0	0	0	16907	1368	48	3	333	3	UBE2H	7	129498753	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	3325174	129498753	29639910	93	45555											
TRYX3	136541	genome.wustl.edu	37	chr7	141955476	141955476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggagctgactgtgtaatctgGattaaaggccaaagcaactg	13	9	12	7	0	1	1	0	1	1	0	1	3	1	3	1	3	3	3	1	3	5	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:141955476G>C	ENST00000552471.1	-	2	377	c.58C>G	c.(58-60)Cca>Gca	p.P20A	PRSS58_ENST00000547058.2_Missense_Mutation_p.P20A			Q8IYP2	PRS58_HUMAN	protease, serine, 58	20	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						GTGTAATCTGGATTAAAGGCC	0.448																																																	0													78	77	77					7																	141955476		2203	4300	6503	SO:0001583	missense	0				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.58C>G	7.37:g.141955476G>C	ENSP00000446916:p.Pro20Ala		B3KVJ6|D3DXD2	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P20A	ENST00000552471.1	37	c.58	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249956	0.22880	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	T;T	0.81163	-1.46;-1.46	4.57	-0.735	0.11137	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.55768	0.1941	N	0.12887	0.27	0.09310	N	1	B	0.34103	0.437	B	0.29077	0.098	T	0.51545	-0.8692	9	0.56958	D	0.05	.	0.2871	0.00253	0.2657:0.1451:0.2924:0.2968	.	20	Q8IYP2	PRS58_HUMAN	A	20	ENSP00000447588:P20A;ENSP00000446916:P20A	ENSP00000307206:P20A	P	-	1	0	PRSS58	141601953	0.431000	0.25546	0.054000	0.19295	0.162000	0.22319	0.409000	0.21082	0.168000	0.19655	0.655000	0.94253	CCA	PRSS58	-	superfamily_Trypsin-like_Pept_dom	ENSG00000258223		0.448	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2	-	0	27	0	G	NM_001001317		141955476	-1	tier1	-	no_errors	ENST00000547058	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.002	C	C	141955476	G	C	141955476	3	2	183	1	0	0	0	0	1	0	0	0	16652	1174	41	5	683	5	TRYX3	7	141955476	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	12456723	141955476	17183187	94	45556											
GSTK1	373156	genome.wustl.edu	37	chr7	142962173	142962173	+	Silent	SNP	C	C	T	0	0	0	1	1	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	tcccgggagctgtggatgcgCgtctggtcaagggtgagtgt	5	10	18	8	3	2	1	1	1	1	0	3	3	3	3	1	4	2	1	1	4	1	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr7:142962173C>T	ENST00000358406.5	+	4	443	c.372C>T	c.(370-372)cgC>cgT	p.R124R	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Silent_p.R81R|GSTK1_ENST00000479303.1_Silent_p.R124R|GSTK1_ENST00000409500.3_Silent_p.R124R	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	124					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	TGTGGATGCGCGTCTGGTCAA	0.582																																																	0													108	113	111					7																	142962173		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"Glutathione S-transferases / Mitochondrial (kappa)"	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.372C>T	7.37:g.142962173C>T			B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Silent	SNP	pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold	p.R124	ENST00000358406.5	37	c.372	CCDS5877.1	7																																																																																			GSTK1	-	pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold	ENSG00000197448		0.582	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTK1	HGNC	protein_coding	OTTHUMT00000327091.1	-	0	44	0	C	NM_015917		142962173	1	tier1	-	no_errors	ENST00000479303	ensembl	human	known	74_37	silent	26.09	34	12	SNP	0.008	T	T	142962173	C	T	142962173	2	4	183	1	0	0	0	0	0	0	0	1	6863	755	27	1		1	GSTK1	7	142962173	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	1006697	142962173	16176490	95	45557											
ESCO2	157570	genome.wustl.edu	37	chr8	27634506	27634506	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	aaatcgtccctggaaaatgaGccgtcactgggacgcaccca	12	6	10	13	3	1	1	1	1	0	0	3	3	2	3	3	2	1	1	3	2	3	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:27634506G>T	ENST00000305188.8	+	3	919	c.681G>T	c.(679-681)gaG>gaT	p.E227D	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	227					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGGAAAATGAGCCGTCACTGG	0.398									SC Phocomelia syndrome																																								0													46	49	48					8																	27634506		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.681G>T	8.37:g.27634506G>T	ENSP00000306999:p.Glu227Asp		B3KW59|Q49AP4	Missense_Mutation	SNP	NULL	p.E227D	ENST00000305188.8	37	c.681	CCDS34872.1	8	.	.	.	.	.	.	.	.	.	.	G	7.727	0.698510	0.15106	.	.	ENSG00000171320	ENST00000305188	T	0.64085	-0.08	5.61	-1.61	0.08399	.	0.921316	0.09147	N	0.842096	T	0.43986	0.1272	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.27732	0.187;0.067	B;B	0.29716	0.106;0.025	T	0.39396	-0.9616	10	0.56958	D	0.05	-0.5591	5.3468	0.16014	0.5625:0.1638:0.2737:0.0	.	227;227	E5RFE4;Q56NI9	.;ESCO2_HUMAN	D	227	ENSP00000306999:E227D	ENSP00000306999:E227D	E	+	3	2	ESCO2	27690425	0.298000	0.24417	0.018000	0.16275	0.061000	0.15899	0.468000	0.22051	-0.197000	0.10350	-0.229000	0.12294	GAG	ESCO2	-	NULL	ENSG00000171320		0.398	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	HGNC	protein_coding	OTTHUMT00000376276.1	-	0	57	0	G	NM_001017420		27634506	1	tier1	-	no_errors	ENST00000305188	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.002	T	T	27634506	G	T	27634506	3	4	183	1	0	0	0	0	1	0	0	0	5265	962	34	3	687	3	ESCO2	8	27634506	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		27634506	118729516	96	45558											
ADAM32	203102	genome.wustl.edu	37	chr8	39079206	39079206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgttataaaggactgtgCtgcaaagactgtcaagtaag	16	10	10	5	0	1	1	1	0	0	1	1	2	1	2	0	1	2	4	0	1	7	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:39079206C>T	ENST00000379907.4	+	13	1438	c.1311C>T	c.(1309-1311)tgC>tgT	p.C437C	ADAM32_ENST00000437682.2_Silent_p.C338C|ADAM32_ENST00000519315.1_Silent_p.C331C	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	437	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)			AAGGACTGTGCTGCAAAGACT	0.358																																																	0													127	116	120					8																	39079206		1873	4102	5975	SO:0001819	synonymous_variant	0			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.1311C>T	8.37:g.39079206C>T			Q8TC42	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.C437	ENST00000379907.4	37	c.1311	CCDS47846.1	8																																																																																			ADAM32	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000197140		0.358	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	-	0	24	0	C	NM_145004		39079206	1	tier1	-	no_errors	ENST00000379907	ensembl	human	known	74_37	silent	34.09	29	15	SNP	0.995	T	T	39079206	C	T	39079206	2	4	183	1	0	0	0	0	0	0	0	1	249	805	28	3		3	ADAM32	8	39079206	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	11444700	39079206	107284816	97	45559											
ST18	9705	genome.wustl.edu	37	chr8	53092844	53092844	+	Missense_Mutation	SNP	T	T	C	0	1	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	ctgatcttcagctgttctctTctttgccatggagcaatcat	7	16	7	11	0	5	1	2	1	3	0	6	2	5	2	1	1	3	3	1	1	1	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:53092844T>C	ENST00000276480.7	-	9	798	c.115A>G	c.(115-117)Aag>Gag	p.K39E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	39					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)				GCTGTTCTCTTCTTTGCCATG	0.423																																																	0													167	157	160					8																	53092844		2203	4300	6503	SO:0001583	missense	0			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.115A>G	8.37:g.53092844T>C	ENSP00000276480:p.Lys39Glu		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.K39E	ENST00000276480.7	37	c.115	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863646	0.71949	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.62105	0.25;0.05	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	M	0.72894	2.215	0.53688	D	0.999976	D	0.76494	0.999	D	0.80764	0.994	T	0.81008	-0.1127	10	0.87932	D	0	-25.265	15.873	0.79136	0.0:0.0:0.0:1.0	.	39	O60284	ST18_HUMAN	E	39	ENSP00000276480:K39E;ENSP00000428521:K39E	ENSP00000276480:K39E	K	-	1	0	ST18	53255397	1.000000	0.71417	0.996000	0.52242	0.283000	0.27025	7.466000	0.80914	2.155000	0.67459	0.533000	0.62120	AAG	ST18	-	NULL	ENSG00000147488		0.423	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	-	0	68	0	T			53092844	-1	tier1	-	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	C	C	53092844	T	C	53092844	3	2	183	1	0	0	0	0	1	0	0	0	15259	1792	62	4	3100	4	ST18	8	53092844	Missense_Mutation	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	14013638	53092844	93271178	98	45560											
XKR4	114786	genome.wustl.edu	37	chr8	56436772	56436772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcaggagcggttggagtacGaaaccactttataaagcaaa	15	9	10	7	2	1	0	1	0	0	0	1	3	1	2	1	3	4	3	1	3	6	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:56436772G>A	ENST00000327381.6	+	3	2039	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	647						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GTTGGAGTACGAAACCACTTT	0.488																																																	0													75	66	69					8																	56436772		2203	4300	6503	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1939G>A	8.37:g.56436772G>A	ENSP00000328326:p.Glu647Lys		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.E647K	ENST00000327381.6	37	c.1939	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457043	0.84317	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.90788	-2.73	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.95084	0.8216	10	0.87932	D	0	-14.1593	19.516	0.95165	0.0:0.0:1.0:0.0	.	647	Q5GH76	XKR4_HUMAN	K	647	ENSP00000328326:E647K	ENSP00000328326:E647K	E	+	1	0	XKR4	56599326	1.000000	0.71417	0.969000	0.41365	0.726000	0.41606	9.790000	0.99075	2.623000	0.88846	0.655000	0.94253	GAA	XKR4	-	NULL	ENSG00000206579		0.488	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	-	0	43	0	G	NM_052898		56436772	1	tier1	-	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	40.00	33	22	SNP	1.000	A	A	56436772	G	A	56436772	3	1	183	1	0	0	0	0	1	0	0	0	17482	1059	37	1	1949	1	XKR4	8	56436772	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	3343928	56436772	89927250	99	45561											
RRS1	23212	genome.wustl.edu	37	chr8	67341994	67341994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgcggccggcttgcaccctAccggacaccagagtaaggag	9	4	14	14	4	0	1	0	0	0	1	0	3	0	3	4	4	2	3	4	4	2	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:67341994A>G	ENST00000320270.2	+	1	732	c.628A>G	c.(628-630)Acc>Gcc	p.T210A	ADHFE1_ENST00000396623.3_5'Flank|ADHFE1_ENST00000379385.4_5'Flank|RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000415254.1_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	210					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CTTGCACCCTACCGGACACCA	0.662																																																	0													15	18	17					8																	67341994		2142	4230	6372	SO:0001583	missense	0			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.628A>G	8.37:g.67341994A>G	ENSP00000322396:p.Thr210Ala		Q9BUX8	Missense_Mutation	SNP	pfam_Ribosom_reg	p.T210A	ENST00000320270.2	37	c.628	CCDS6189.1	8	.	.	.	.	.	.	.	.	.	.	A	8.963	0.970933	0.18659	.	.	ENSG00000179041	ENST00000320270	D	0.85773	-2.03	5.75	4.59	0.56863	.	0.104243	0.64402	D	0.000011	T	0.70090	0.3184	N	0.17082	0.46	0.19575	N	0.999964	B	0.19706	0.038	B	0.15870	0.014	T	0.52653	-0.8547	10	0.12103	T	0.63	-14.3429	8.6864	0.34240	0.8445:0.0:0.1554:0.0	.	210	Q15050	RRS1_HUMAN	A	210	ENSP00000322396:T210A	ENSP00000322396:T210A	T	+	1	0	RRS1	67504548	0.569000	0.26643	0.641000	0.29422	0.986000	0.74619	2.978000	0.49305	1.013000	0.39391	0.528000	0.53228	ACC	RRS1	-	NULL	ENSG00000179041		0.662	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRS1	HGNC	protein_coding	OTTHUMT00000380126.1	-	0	22	0	A	NM_015169		67341994	1	tier1	-	no_errors	ENST00000320270	ensembl	human	known	74_37	missense	63.64	8	14	SNP	0.163	G	G	67341994	A	G	67341994	3	3	183	1	0	0	0	0	1	0	0	0	13737	391	14	4	630	4	RRS1	8	67341994	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	10905222	67341994	79022028	100	45562											
TMEM67	91147	genome.wustl.edu	37	chr8	94821160	94821160	+	Silent	SNP	C	C	T	0	0	0	1	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	cagatgagacaacattatgaCagaattcatgagacactaat	18	9	7	7	0	1	5	1	3	0	4	1	7	1	5	0	0	1	0	0	0	4	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:94821160C>T	ENST00000453321.3	+	24	2590	c.2532C>T	c.(2530-2532)gaC>gaT	p.D844D	TMEM67_ENST00000409623.3_Silent_p.D763D	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	844					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AACATTATGACAGAATTCATG	0.338																																																	0													60	57	58					8																	94821160		2203	4300	6503	SO:0001819	synonymous_variant	0			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2532C>T	8.37:g.94821160C>T			B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom	p.D844	ENST00000453321.3	37	c.2532	CCDS6258.2	8																																																																																			TMEM67	-	pfam_Meckelin	ENSG00000164953		0.338	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2	-	0	34	0	C	NM_153704		94821160	1	tier1	-	no_errors	ENST00000453321	ensembl	human	known	74_37	silent	41.67	28	20	SNP	1.000	T	T	94821160	C	T	94821160	2	4	183	1	0	0	0	0	0	0	0	1	16243	477	17	3		3	TMEM67	8	94821160	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	27479166	94821160	51542862	101	45563											
FBXO43	286151	genome.wustl.edu	37	chr8	101152954	101152954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactctaaaaccatagcaaGaatatgctttaaatttctat	16	13	5	7	0	2	1	0	0	2	1	2	2	2	2	1	1	3	2	1	1	9	7			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:101152954G>A	ENST00000428847.2	-	2	1844	c.1528C>T	c.(1528-1530)Ctt>Ttt	p.L510F		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	510	F-box.				meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACCATAGCAAGAATATGCTTT	0.328																																																	0													68	65	66					8																	101152954		1806	4075	5881	SO:0001583	missense	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1528C>T	8.37:g.101152954G>A	ENSP00000403293:p.Leu510Phe			Missense_Mutation	SNP	pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC	p.L510F	ENST00000428847.2	37	c.1528	CCDS47904.1	8	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684584	0.68157	.	.	ENSG00000156509	ENST00000428847	T	0.62105	0.05	4.86	4.86	0.63082	.	0.070636	0.56097	D	0.000040	T	0.77968	0.4210	M	0.79258	2.445	0.51767	D	0.99993	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	T	0.80739	-0.1248	10	0.72032	D	0.01	-12.0621	13.3503	0.60597	0.0:0.0:0.8422:0.1577	.	476;510	C9J908;Q4G163	.;FBX43_HUMAN	F	510	ENSP00000403293:L510F	ENSP00000403293:L510F	L	-	1	0	FBXO43	101222130	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.889000	0.56212	2.398000	0.81561	0.655000	0.94253	CTT	FBXO43	-	superfamily_F-box_dom	ENSG00000156509		0.328	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1		0	47	0	G	XM_209918		101152954	-1			no_errors	ENST00000428847	ensembl	human	known	74_37	missense	5.26	53	3	SNP	1.000	A	A	101152954	G	A	101152954	3	1	183	1	0	0	0	0	1	0	0	0	5774	942	33	3	614	3	FBXO43	8	101152954	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	6331794	101152954	45211068	102	45564											
CSMD3	114788	genome.wustl.edu	37	chr8	113267520	113267520	+	Silent	SNP	T	T	A	0	1	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	gaaccactccaagtgccatcTgcttgacatattctggtgct	9	12	8	12	0	2	1	0	1	2	0	3	2	3	1	3	1	4	2	3	1	3	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:113267520T>A	ENST00000297405.5	-	62	10243	c.9999A>T	c.(9997-9999)gcA>gcT	p.A3333A	CSMD3_ENST00000343508.3_Silent_p.A3293A|CSMD3_ENST00000352409.3_Silent_p.A3263A|CSMD3_ENST00000455883.2_Silent_p.A3164A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3333	Sushi 26. {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						AAGTGCCATCTGCTTGACATA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													133	120	124					8																	113267520		2203	4300	6503	SO:0001819	synonymous_variant	0			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.9999A>T	8.37:g.113267520T>A			Q96PZ3	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A3333	ENST00000297405.5	37	c.9999	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	33	0	T	NM_052900		113267520	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	36.54	33	19	SNP	0.996	A	A	113267520	T	A	113267520	2	1	183	1	0	0	0	0	0	0	0	1	3955	1567	55	5		5	CSMD3	8	113267520	Silent	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	12114566	113267520	33096502	103	45565											
COL22A1	169044	genome.wustl.edu	37	chr8	139825204	139825204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacccgaggggatatcacaaCaagtctccaattctgcgtgt	11	9	10	11	2	3	0	1	0	2	0	4	3	3	1	2	2	2	0	2	2	4	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:139825204C>A	ENST00000303045.6	-	8	1750	c.1304G>T	c.(1303-1305)tGt>tTt	p.C435F	COL22A1_ENST00000435777.1_Missense_Mutation_p.C435F	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	435					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)			GATATCACAACAAGTCTCCAA	0.512										HNSCC(7;0.00092)																																							0													157	128	138					8																	139825204		2203	4300	6503	SO:0001583	missense	0			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.1304G>T	8.37:g.139825204C>A	ENSP00000303153:p.Cys435Phe		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.C435F	ENST00000303045.6	37	c.1304	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144155	0.77888	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.02301	4.35;4.35	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);	0.000000	0.47093	U	0.000248	T	0.14013	0.0339	M	0.85462	2.755	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.00480	-1.1714	9	.	.	.	.	14.8862	0.70570	0.0:1.0:0.0:0.0	.	435	Q8NFW1	COMA1_HUMAN	F	435	ENSP00000303153:C435F;ENSP00000387655:C435F	.	C	-	2	0	COL22A1	139894386	1.000000	0.71417	0.772000	0.31596	0.982000	0.71751	7.294000	0.78760	2.203000	0.70933	0.460000	0.39030	TGT	COL22A1	-	superfamily_ConA-like_lec_gl_sf	ENSG00000169436		0.512	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	-	0	26	0	C	XM_291257		139825204	-1	tier1	-	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	A	A	139825204	C	A	139825204	3	1	183	1	0	0	0	0	1	0	0	0	3688	478	17	3	3808	3	COL22A1	8	139825204	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	26557684	139825204	6538818	104	45566											
BAI1	575	genome.wustl.edu	37	chr8	143623435	143623435	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaatttcaacagcctgccGgccaacgtgtccaagctgca	11	7	8	15	2	1	0	1	0	0	0	2	0	2	0	5	1	6	2	5	1	4	1	rs575943898	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:143623435G>C	ENST00000517894.1	+	28	4734	c.3840G>C	c.(3838-3840)ccG>ccC	p.P1280P	BAI1_ENST00000323289.5_Silent_p.P1280P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1280					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)	p.P1280P(1)		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)					ACAGCCTGCCGGCCAACGTGT	0.662																																																	1	Substitution - coding silent(1)	lung(1)											23	28	26					8																	143623435		2108	4210	6318	SO:0001819	synonymous_variant	0			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.3840G>C	8.37:g.143623435G>C				Silent	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.P1280	ENST00000517894.1	37	c.3840		8																																																																																			BAI1	-	NULL	ENSG00000181790		0.662	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3		0	41	0	G	NM_001702		143623435	1			no_errors	ENST00000323289	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.231	C	C	143623435	G	C	143623435	2	2	183	1	0	0	0	0	0	0	0	1	1299	1103	39	5		5	BAI1	8	143623435	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	3798231	143623435	2740587	105	45567											
LYPD2	137797	genome.wustl.edu	37	chr8	143832527	143832527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgttggtggtgcaggtggcGatggtgacacagtccgacac	7	9	16	9	3	0	1	0	1	0	0	2	3	1	1	1	5	1	2	1	5	0	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr8:143832527G>A	ENST00000359228.3	-	2	202	c.120C>T	c.(118-120)atC>atT	p.I40I		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	40	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	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)					TGCAGGTGGCGATGGTGACAC	0.657																																																	0													260	206	224					8																	143832527		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358432	CCDS6388.1	8q24.3	2005-08-30		2005-08-30	ENSG00000197353	ENSG00000197353			25215	protein-coding gene	gene with protein product				LYPDC2		12975309	Standard	NM_205545		Approved	RGTR430, UNQ430	uc003ywz.3	Q6UXB3	OTTHUMG00000164686	ENST00000359228.3:c.120C>T	8.37:g.143832527G>A			A8K2R6|Q0VD64|Q0VF31	Silent	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.I40	ENST00000359228.3	37	c.120	CCDS6388.1	8																																																																																			LYPD2	-	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	ENSG00000197353		0.657	LYPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD2	HGNC	protein_coding	OTTHUMT00000379742.1		0	46	0	G	NM_205545		143832527	-1			no_errors	ENST00000359228	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.000	A	A	143832527	G	A	143832527	2	1	183	1	0	0	0	0	0	0	0	1	9146	1048	37	1		1	LYPD2	8	143832527	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	209092	143832527	2531495	106	45568											
NOL6	65083	genome.wustl.edu	37	chr9	33462777	33462777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccattactagctccccacctCgagacatcaccatgcgcccc	9	7	5	20	2	1	1	1	0	0	1	3	2	2	1	7	0	3	1	7	0	2	2	rs138187500		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:33462777C>T	ENST00000455041.2	-	25	3229	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q	NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1109					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)		CTCCCCACCTCGAGACATCAC	0.577																																																	0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	148	126	134		3326,1985	-0.9	0	9	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	NOL6	NM_022917.4,NM_139235.3	43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	1109/1147,662/700	33462777	2,13004	2203	4300	6503	SO:0001583	missense	0			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	ENST00000455041.2:c.3170G>A	9.37:g.33462777C>T	ENSP00000395915:p.Arg1057Gln		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.R1109Q	ENST00000455041.2	37	c.3326		9	.	.	.	.	.	.	.	.	.	.	C	0.596	-0.830905	0.02713	0.0	2.33E-4	ENSG00000165271	ENST00000353159;ENST00000379470;ENST00000297990;ENST00000541373;ENST00000455041	T;T;T	0.39997	1.05;1.56;1.55	5.61	-0.945	0.10388	.	0.862322	0.10320	N	0.688938	T	0.23054	0.0557	N	0.24115	0.695	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;0.0;0.001;0.0	T	0.27123	-1.0083	10	0.15952	T	0.53	.	6.0351	0.19702	0.1196:0.3644:0.0:0.5159	.	1057;1106;662;1109	B4DF80;Q9H6R4-4;Q9H6R4-3;Q9H6R4	.;.;.;NOL6_HUMAN	Q	662;163;1109;665;1057	ENSP00000313978:R662Q;ENSP00000297990:R1109Q;ENSP00000395915:R1057Q	ENSP00000297990:R1109Q	R	-	2	0	NOL6	33452777	0.006000	0.16342	0.002000	0.10522	0.083000	0.17756	0.153000	0.16323	-0.415000	0.07484	-0.492000	0.04666	CGA	NOL6	-	pfam_Nrap	ENSG00000165271		0.577	NOL6-201	KNOWN	basic	protein_coding	NOL6	HGNC	protein_coding		-	0	31	0	C	NM_022917		33462777	-1	tier1	rs138187500	no_errors	ENST00000297990	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.001	T	T	33462777	C	T	33462777	3	4	183	1	0	0	0	0	1	0	0	0	10564	884	31	1	118	1	NOL6	9	33462777	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09		33462777	107750654	107	45569											
GBA2	57704	genome.wustl.edu	37	chr9	35737861	35737861	+	Frame_Shift_Del	DEL	C	C	-																															cccattcacagcccccatggCccctcctgcaaaggcctgga																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:35737861delC	ENST00000378103.3	-	16	2912	c.2389delG	c.(2389-2391)gccfs	p.A797fs	GBA2_ENST00000545786.1_Frame_Shift_Del_p.A803fs|GBA2_ENST00000378088.1_Frame_Shift_Del_p.A98fs|GBA2_ENST00000378094.4_Frame_Shift_Del_p.A797fs|GBA2_ENST00000467252.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	797					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)			GCCCCCATGGCCCCTCCTGCA	0.577																																																	0													72	68	69					9																	35737861		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2389delG	9.37:g.35737861delC	ENSP00000367343:p.Ala797fs		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Del	DEL	pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.A803fs	ENST00000378103.3	37	c.2407	CCDS6589.1	9																																																																																			GBA2	-	pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	ENSG00000070610		0.577	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	HGNC	protein_coding	OTTHUMT00000055456.1		0	38	0	C	NM_020944		35737861	-1	tier1		no_errors	ENST00000545786	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.206	-	-	35737861	C	-	35737861	7	5	183	1	0	1	0	1	0	0	0	0	6292	739	26	0	402	0	GBA2	9	35737861	Frame_Shift_Del	DEL	C	TCGA-Z6-A9VB-01A-21D-A37C-09	2275084	35737861	105475570	108	45570											
NANS	54187	genome.wustl.edu	37	chr9	100845271	100845271	+	Silent	SNP	T	T	A	0	1	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	ggcaagaaggtcctggtcacTgttgaagaggatgacaccat	12	8	13	8	0	1	4	1	2	0	2	2	5	2	5	2	4	0	2	2	4	3	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:100845271T>A	ENST00000210444.5	+	6	1084	c.1014T>A	c.(1012-1014)acT>acA	p.T338T	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000478530.1_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	338	AFP-like. {ECO:0000255|PROSITE- ProRule:PRU00021}.				lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCCTGGTCACTGTTGAAGAGG	0.428																																																	0													96	92	93					9																	100845271		2203	4300	6503	SO:0001819	synonymous_variant	0			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.1014T>A	9.37:g.100845271T>A			B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Silent	SNP	pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III	p.T338	ENST00000210444.5	37	c.1014	CCDS6733.1	9																																																																																			NANS	-	pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III	ENSG00000095380		0.428	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANS	HGNC	protein_coding	OTTHUMT00000053359.1	-	0	44	0	T	NM_018946		100845271	1	tier1	-	no_errors	ENST00000210444	ensembl	human	known	74_37	silent	26.19	31	11	SNP	0.092	A	A	100845271	T	A	100845271	2	1	183	1	0	0	0	0	0	0	0	1	10193	1567	55	5		5	NANS	9	100845271	Silent	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	65107410	100845271	40368160	109	45571											
COL15A1	1306	genome.wustl.edu	37	chr9	101706528	101706528	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacccagacccgcggtgcGacaggtaagcaacccggtcg	9	4	13	15	5	1	1	1	0	0	1	2	2	1	1	3	3	3	2	3	3	2	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:101706528G>T	ENST00000375001.3	+	2	519	c.96G>T	c.(94-96)gcG>gcT	p.A32A	RP11-92C4.6_ENST00000605631.1_RNA	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	32					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)				CCCGCGGTGCGACAGGTAAGC	0.682																																																	0													50	34	39					9																	101706528		2202	4300	6502	SO:0001819	synonymous_variant	0			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.96G>T	9.37:g.101706528G>T			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.A32	ENST00000375001.3	37	c.96	CCDS35081.1	9																																																																																			COL15A1	-	NULL	ENSG00000204291		0.682	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	-	0	43	0	G	NM_001855		101706528	1	tier1	-	no_errors	ENST00000375001	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.173	T	T	101706528	G	T	101706528	2	4	183	1	0	0	0	0	0	0	0	1	3679	1045	37	2		2	COL15A1	9	101706528	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	861257	101706528	39506903	110	45572											
C9orf84	158401	genome.wustl.edu	37	chr9	114490231	114490231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagatctggtacttcttttgCcagagatggactcttttgtg	7	17	10	7	0	3	2	0	0	3	2	3	4	3	3	1	2	2	1	1	2	2	7			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:114490231C>T	ENST00000318737.4	-	11	1452	c.1324G>A	c.(1324-1326)Gca>Aca	p.A442T	C9orf84_ENST00000394779.3_Missense_Mutation_p.A403T|C9orf84_ENST00000374287.3_Missense_Mutation_p.A442T|C9orf84_ENST00000394777.4_Missense_Mutation_p.A403T	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	442								p.A403P(1)|p.A442P(1)		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						ACTTCTTTTGCCAGAGATGGA	0.348																																																	2	Substitution - Missense(2)	lung(2)											79	79	79					9																	114490231		2202	4297	6499	SO:0001583	missense	0			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.1324G>A	9.37:g.114490231C>T	ENSP00000322108:p.Ala442Thr		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.A442T	ENST00000318737.4	37	c.1324	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	C	3.915	-0.019383	0.07634	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.04917	3.53;3.53;3.54;3.54	4.5	-1.74	0.08056	.	0.939500	0.08906	N	0.876504	T	0.02848	0.0085	N	0.12182	0.205	0.09310	N	1	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.14578	0.011;0.007;0.007	T	0.46373	-0.9196	10	0.28530	T	0.3	0.2741	1.02	0.01516	0.1519:0.3489:0.1479:0.3512	.	403;442;403	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	T	403;403;56;442;442	ENSP00000378259:A403T;ENSP00000378257:A403T;ENSP00000363405:A442T;ENSP00000322108:A442T	ENSP00000322108:A442T	A	-	1	0	C9orf84	113530052	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	0.066000	0.14489	-0.323000	0.08602	-0.225000	0.12378	GCA	C9orf84	-	NULL	ENSG00000165181		0.348	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2		0	23	0	C	NM_173521		114490231	-1			no_errors	ENST00000318737	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.002	T	T	114490231	C	T	114490231	3	4	183	1	0	0	0	0	1	0	0	0	2507	739	26	3	3074	3	C9orf84	9	114490231	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	12783703	114490231	26723200	111	45573											
DBC1	1620	genome.wustl.edu	37	chr9	121930252	121930252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ctcgctccgctccgagtccaCgttctgtggttcacagcggc	4	10	11	16	5	2	0	1	0	1	0	6	1	5	0	3	2	1	4	3	2	0	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:121930252C>T	ENST00000265922.3	-	8	1857	c.1396G>A	c.(1396-1398)Gtg>Atg	p.V466M	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	466					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)											TCCGAGTCCACGTTCTGTGGT	0.582																																																	0													129	109	115					9																	121930252		2203	4300	6503	SO:0001583	missense	0			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.1396G>A	9.37:g.121930252C>T	ENSP00000265922:p.Val466Met		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.V466M	ENST00000265922.3	37	c.1396	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737310	0.69304	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.55930	0.49	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	P	0.59595	0.86	T	0.65245	-0.6215	10	0.87932	D	0	-19.9864	19.5083	0.95130	0.0:1.0:0.0:0.0	.	466	O60477	DBC1_HUMAN	M	466	ENSP00000265922:V466M	ENSP00000265922:V466M	V	-	1	0	DBC1	120970073	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.743000	0.85020	2.600000	0.87896	0.655000	0.94253	GTG	BRINP1	-	NULL	ENSG00000078725		0.582	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2		0	27	0	C	NM_014618		121930252	-1			no_errors	ENST00000265922	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	121930252	C	T	121930252	3	4	183	1	0	0	0	0	1	0	0	0	4256	536	19	1	893	1	DBC1	9	121930252	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	7440021	121930252	19283179	112	45574											
DAB2IP	153090	genome.wustl.edu	37	chr9	124534910	124534910	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatttcacccggttaccGtctccaacccccgaaaacaa	13	8	5	15	3	2	1	1	0	1	1	3	2	2	1	5	1	3	1	5	1	6	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:124534910G>A	ENST00000408936.3	+	12	2285	c.2103G>A	c.(2101-2103)ccG>ccA	p.P701P	DAB2IP_ENST00000309989.1_Silent_p.P577P|DAB2IP_ENST00000259371.2_Silent_p.P673P			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	701	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCGGTTACCGTCTCCAACCC	0.557																																																	0													101	96	98					9																	124534910		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2103G>A	9.37:g.124534910G>A			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.P701	ENST00000408936.3	37	c.2103		9																																																																																			DAB2IP	-	pfam_DUF3498	ENSG00000136848		0.557	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1		0	32	0	G	NM_032552		124534910	1			no_errors	ENST00000408936	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	A	A	124534910	G	A	124534910	2	1	183	1	0	0	0	0	0	0	0	1	4228	1132	40	1		1	DAB2IP	9	124534910	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	2604658	124534910	16678521	113	45575											
NUP188	23511	genome.wustl.edu	37	chr9	131765723	131765723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgcctcagctcatgcGtgatatccaggtgggggccc	6	8	12	15	1	2	1	2	1	0	0	3	1	3	1	5	3	3	1	5	3	1	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:131765723G>T	ENST00000372577.2	+	38	4445	c.4424G>T	c.(4423-4425)cGt>cTt	p.R1475L	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1475					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						CAGCTCATGCGTGATATCCAG	0.567																																																	0													86	83	84					9																	131765723		2203	4300	6503	SO:0001583	missense	0			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.4424G>T	9.37:g.131765723G>T	ENSP00000361658:p.Arg1475Leu		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.R1475L	ENST00000372577.2	37	c.4424	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528533	0.44969	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.26373	1.74	5.8	5.8	0.92144	.	0.355088	0.28706	N	0.014401	T	0.25754	0.0627	L	0.51422	1.61	0.30003	N	0.81585	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.11275	-1.0594	10	0.62326	D	0.03	-0.4508	12.3594	0.55194	0.0761:0.0:0.9239:0.0	.	808;1475	E9PET9;Q5SRE5	.;NU188_HUMAN	L	1364;1475	ENSP00000361658:R1475L	ENSP00000349125:R1364L	R	+	2	0	NUP188	130805544	0.993000	0.37304	0.881000	0.34555	0.980000	0.70556	3.030000	0.49720	2.758000	0.94735	0.561000	0.74099	CGT	NUP188	-	NULL	ENSG00000095319		0.567	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	-	0	42	0	G			131765723	1	tier1	-	no_errors	ENST00000372577	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.444	T	T	131765723	G	T	131765723	3	4	183	1	0	0	0	0	1	0	0	0	10797	1145	40	2	4574	2	NUP188	9	131765723	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	7230813	131765723	9447708	114	45576											
TSC1	7248	genome.wustl.edu	37	chr9	135772902	135772902	+	Frame_Shift_Del	DEL	T	T	-																															gattccagttccaaaatccgTttttgggaggtatcaagcct																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:135772902delT	ENST00000298552.3	-	21	2942	c.2721delA	c.(2719-2721)aaafs	p.K907fs	TSC1_ENST00000440111.2_Frame_Shift_Del_p.K907fs|TSC1_ENST00000545250.1_Frame_Shift_Del_p.K856fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	907					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)		CCAAAATCCGTTTTTGGGAGG	0.433			"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)											195	206	202					9																	135772902		2203	4300	6503	SO:0001589	frameshift_variant	0	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.2721delA	9.37:g.135772902delT	ENSP00000298552:p.Lys907fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	pfam_Hamartin,superfamily_ARM-type_fold	p.K907fs	ENST00000298552.3	37	c.2721	CCDS6956.1	9																																																																																			TSC1	-	NULL	ENSG00000165699		0.433	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1		0	42	0	T			135772902	-1	tier1		no_errors	ENST00000298552	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.991	-	-	135772902	T	-	135772902	7	5	183	1	0	1	0	1	0	0	0	0	16653	1722	60	0	785	0	TSC1	9	135772902	Frame_Shift_Del	DEL	T	TCGA-Z6-A9VB-01A-21D-A37C-09	4007179	135772902	5440529	115	45577											
PNPLA7	375775	genome.wustl.edu	37	chr9	140392584	140392584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctgtatattgctcgcccgGcctccacctccacccagtcc	6	9	6	20	2	0	0	0	0	0	0	4	0	3	0	8	1	1	2	8	1	2	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr9:140392584G>T	ENST00000277531.4	-	16	1982	c.1796C>A	c.(1795-1797)gCc>gAc	p.A599D	PNPLA7_ENST00000406427.1_Missense_Mutation_p.A624D|PNPLA7_ENST00000371457.1_Missense_Mutation_p.A205D	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	599					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)		TGCTCGCCCGGCCTCCACCTC	0.632																																																	0													133	102	113					9																	140392584		2201	4300	6501	SO:0001583	missense	0			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.1796C>A	9.37:g.140392584G>T	ENSP00000277531:p.Ala599Asp		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.A624D	ENST00000277531.4	37	c.1871	CCDS7045.1	9	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604713	0.87157	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	4.4	4.4	0.53042	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96321	0.8800	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97005	0.9732	10	0.87932	D	0	-25.1801	16.3125	0.82898	0.0:0.0:1.0:0.0	.	624;599	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	D	205;599;624;599;590	ENSP00000360512:A205D;ENSP00000277531:A599D;ENSP00000384610:A624D;ENSP00000400582:A590D	ENSP00000277531:A599D	A	-	2	0	PNPLA7	139512405	1.000000	0.71417	0.959000	0.39883	0.781000	0.44180	9.358000	0.97109	2.169000	0.68431	0.448000	0.29417	GCC	PNPLA7	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000130653		0.632	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1		0	42	0	G	NM_152286		140392584	-1			no_errors	ENST00000406427	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	140392584	G	T	140392584	3	4	183	1	0	0	0	0	1	0	0	0	12209	1203	42	3	2233	3	PNPLA7	9	140392584	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	4619682	140392584	820847	116	45578											
AKR1C2	1646	genome.wustl.edu	37	chr10	5043707	5043707	+	Splice_Site	DEL	T	T	-																															ctcatcataggcacagtaccTttgaagtgtagaatatgtct																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:5043707delT	ENST00000380753.4	-	2	438	c.251delA	c.(250-252)aag>ag	p.K84fs	AKR1C2_ENST00000407674.1_Splice_Site_p.K84fs|AKR1C2_ENST00000421196.3_Splice_Site_p.K84fs|AKR1C2_ENST00000455190.1_Splice_Site_p.K84fs	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	84		Lowers pKa of active site Tyr. {ECO:0000250}.			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)	GCACAGTACCTTTGAAGTGTA	0.443																																																	0													129	106	114					10																	5043707		2202	4281	6483	SO:0001630	splice_region_variant	0			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.252+1A>-	10.37:g.5043707delT			A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Frame_Shift_Del	DEL	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.K84fs	ENST00000380753.4	37	c.251	CCDS7062.1	10																																																																																			AKR1C2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000151632		0.443	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C2	HGNC	protein_coding	OTTHUMT00000046531.1		0	80	0	T	NM_001354	Frame_Shift_Del	5043707	-1	tier1		no_errors	ENST00000380753	ensembl	human	known	74_37	frame_shift_del	20.69	69	18	DEL	1.000	-	-	5043707	T	-	5043707	8	5	183	1	0	1	0	1	0	0	1	0	470	1623	56	0	807	0	AKR1C2	10	5043707	Splice_Site	DEL	T	TCGA-Z6-A9VB-01A-21D-A37C-09		5043707	130491040	117	45579											
C10orf140	387640	genome.wustl.edu	37	chr10	21806537	21806537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcggcgtggaaggcgatgCtgttaattgccttgagtttc	6	13	15	7	3	0	1	0	1	0	0	1	3	0	2	1	4	2	3	1	4	2	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:21806537C>T	ENST00000449193.2	-	4	2467	c.215G>A	c.(214-216)aGc>aAc	p.S72N	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Missense_Mutation_p.S72N	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	72						nucleus (GO:0005634)											GAAGGCGATGCTGTTAATTGC	0.567																																																	0													80	79	79					10																	21806537		2128	4236	6364	SO:0001583	missense	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.215G>A	10.37:g.21806537C>T	ENSP00000410041:p.Ser72Asn		B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.S72N	ENST00000449193.2	37	c.215	CCDS44363.1	10	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438828	0.62955	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	D;D	0.82526	-1.62;-1.62	4.96	4.96	0.65561	DNA binding domain, putative (1);Transforming protein Ski (2);	0.126644	0.52532	D	0.000080	D	0.85513	0.5714	L	0.29908	0.895	0.43508	D	0.995761	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.87053	0.2148	10	0.87932	D	0	-9.5732	13.0394	0.58891	0.0:0.697:0.303:0.0	.	72;72	Q1XH10;E9PAX1	DLN1_HUMAN;.	N	72	ENSP00000410041:S72N;ENSP00000442432:S72N	ENSP00000442432:S72N	S	-	2	0	C10orf140	21846543	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	6.985000	0.76193	2.292000	0.77174	0.313000	0.20887	AGC	SKIDA1	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	ENSG00000180592		0.567	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2		0	61	0	C	NM_207371		21806537	-1			no_errors	ENST00000449193	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	21806537	C	T	21806537	3	4	183	1	0	0	0	0	1	0	0	0	1600	797	28	3	2515	3	C10orf140	10	21806537	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	16762830	21806537	113728210	118	45580											
GPR158	57512	genome.wustl.edu	37	chr10	25464572	25464572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttggcgcagaaactcGccgaggaggtgcccatggac	9	6	13	13	3	1	1	0	0	1	1	2	4	1	3	3	4	2	1	3	4	1	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:25464572G>T	ENST00000376351.3	+	1	582	c.223G>T	c.(223-225)Gcc>Tcc	p.A75S	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	75					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						GCAGAAACTCGCCGAGGAGGT	0.687																																																	0													27	29	28					10																	25464572		2201	4291	6492	SO:0001583	missense	0			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.223G>T	10.37:g.25464572G>T	ENSP00000365529:p.Ala75Ser		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.A75S	ENST00000376351.3	37	c.223	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438902	0.25900	.	.	ENSG00000151025	ENST00000376351	T	0.60424	0.19	4.59	0.0199	0.14123	.	0.097639	0.42682	N	0.000663	T	0.42108	0.1188	L	0.51422	1.61	0.28922	N	0.892089	B	0.15473	0.013	B	0.13407	0.009	T	0.18053	-1.0349	10	0.29301	T	0.29	.	3.9381	0.09314	0.1488:0.1037:0.5301:0.2175	.	75	Q5T848	GP158_HUMAN	S	75	ENSP00000365529:A75S	ENSP00000365529:A75S	A	+	1	0	GPR158	25504578	0.919000	0.31177	0.989000	0.46669	0.907000	0.53573	1.376000	0.34306	0.167000	0.19631	0.313000	0.20887	GCC	GPR158	-	NULL	ENSG00000151025		0.687	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0	35	0	G	XM_166110		25464572	1	tier1	-	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.948	T	T	25464572	G	T	25464572	3	4	183	1	0	0	0	0	1	0	0	0	6689	1087	38	2	225	2	GPR158	10	25464572	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	3658035	25464572	110070175	119	45581											
GPR158	57512	genome.wustl.edu	37	chr10	25464990	25464990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctccgcaccccacctggCcaacgccactctggagaccg	7	5	8	21	3	1	1	0	0	1	1	3	2	3	1	8	2	1	1	8	2	1	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:25464990C>T	ENST00000376351.3	+	1	1000	c.641C>T	c.(640-642)gCc>gTc	p.A214V	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	214					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						CCCCACCTGGCCAACGCCACT	0.711																																																	0													20	20	20					10																	25464990		2199	4298	6497	SO:0001583	missense	0			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.641C>T	10.37:g.25464990C>T	ENSP00000365529:p.Ala214Val		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.A214V	ENST00000376351.3	37	c.641	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949703	0.53186	.	.	ENSG00000151025	ENST00000376351	T	0.61274	0.12	5.09	4.16	0.48862	.	0.193948	0.35179	N	0.003394	T	0.51466	0.1676	L	0.47716	1.5	0.33158	D	0.546535	P	0.43352	0.804	B	0.44315	0.446	T	0.62402	-0.6862	10	0.38643	T	0.18	.	9.2962	0.37817	0.0:0.6682:0.2556:0.0761	.	214	Q5T848	GP158_HUMAN	V	214	ENSP00000365529:A214V	ENSP00000365529:A214V	A	+	2	0	GPR158	25504996	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.461000	0.45040	2.650000	0.89964	0.655000	0.94253	GCC	GPR158	-	NULL	ENSG00000151025		0.711	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0	70	0	C	XM_166110		25464990	1	tier1	-	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T	T	25464990	C	T	25464990	3	4	183	1	0	0	0	0	1	0	0	0	6689	739	26	3	643	3	GPR158	10	25464990	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	418	25464990	110069757	120	45582											
C10orf68	79741	genome.wustl.edu	37	chr10	33103339	33103339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatgcatttggaagagatAtactaaaggatgaattcaag	17	10	10	4	0	1	3	1	1	0	2	1	6	1	5	0	2	2	1	0	2	7	5	rs530294108		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:33103339A>G	ENST00000375028.3	+	10	950	c.880A>G	c.(880-882)Ata>Gta	p.I294V	C10orf68_ENST00000375025.4_Missense_Mutation_p.I354V|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN		318										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TGGAAGAGATATACTAAAGGA	0.333																																																	0													163	180	174					10																	33103339		2203	4300	6503	SO:0001583	missense	0																														ENST00000375028.3:c.880A>G	10.37:g.33103339A>G	ENSP00000364168:p.Ile294Val		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.I354V	ENST00000375028.3	37	c.1060		10	.	.	.	.	.	.	.	.	.	.	.	8.843	0.942752	0.18281	.	.	ENSG00000150076	ENST00000302316;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T	0.27104	1.71;1.7;1.69	2.56	-1.6	0.08426	.	.	.	.	.	T	0.14442	0.0349	L	0.50333	1.59	0.09310	N	1	B;B;B	0.24576	0.106;0.106;0.106	B;B;B	0.20184	0.028;0.028;0.028	T	0.38607	-0.9653	9	0.02654	T	1	.	2.3057	0.04173	0.4963:0.0:0.282:0.2217	.	271;318;294	B4DX58;Q9H943;A2A3B4	.;CJ068_HUMAN;.	V	318;294;354;266	ENSP00000303710:I318V;ENSP00000364168:I294V;ENSP00000364165:I354V	ENSP00000303710:I318V	I	+	1	0	C10orf68	33143345	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.538000	0.02204	-0.362000	0.08113	0.459000	0.35465	ATA	C10orf68	-	NULL	ENSG00000150076		0.333	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000314000.2	-	0	32	0	A			33103339	1	tier1	-	no_errors	ENST00000375025	ensembl	human	known	74_37	missense	48.84	22	21	SNP	0.000	G	G	33103339	A	G	33103339	3	3	183	1	0	0	0	0	1	0	0	0	1618	449	16	4	990	4	C10orf68	10	33103339	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	7638349	33103339	102431408	121	45583											
ANK3	288	genome.wustl.edu	37	chr10	61832417	61832417	+	Frame_Shift_Del	DEL	T	T	-																															ctgggattctggactggccaTctgactttctgtcttcttga																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:61832417delT	ENST00000280772.2	-	37	8413	c.8222delA	c.(8221-8223)gatfs	p.D2741fs	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)	2741					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						GGACTGGCCATCTGACTTTCT	0.413																																																	0													128	128	128					10																	61832417		2203	4300	6503	SO:0001589	frameshift_variant	0			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.8222delA	10.37:g.61832417delT	ENSP00000280772:p.Asp2741fs		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.D2741fs	ENST00000280772.2	37	c.8222	CCDS7258.1	10																																																																																			ANK3	-	NULL	ENSG00000151150		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0	48	0	T	NM_020987		61832417	-1	tier1		no_errors	ENST00000280772	ensembl	human	known	74_37	frame_shift_del	40.00	15	10	DEL	0.998	-	-	61832417	T	-	61832417	7	5	183	1	0	1	0	1	0	0	0	0	622	1435	50	0	5252	0	ANK3	10	61832417	Frame_Shift_Del	DEL	T	TCGA-Z6-A9VB-01A-21D-A37C-09	28729078	61832417	73702330	122	45584											
P4HA1	5033	genome.wustl.edu	37	chr10	74813333	74813333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcagccgttagaaaaGatttgtgtttcactcctatg	10	14	8	9	1	2	2	2	0	0	2	4	2	4	2	3	0	1	2	3	0	4	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:74813333G>T	ENST00000307116.2	-	6	595	c.479C>A	c.(478-480)tCt>tAt	p.S160Y	P4HA1_ENST00000440381.1_Missense_Mutation_p.S160Y|P4HA1_ENST00000394890.2_Missense_Mutation_p.S160Y|P4HA1_ENST00000412021.2_Missense_Mutation_p.S160Y|P4HA1_ENST00000373008.2_Missense_Mutation_p.S160Y|P4HA1_ENST00000263556.3_Missense_Mutation_p.S160Y			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	160					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)	CGTTAGAAAAGATTTGTGTTT	0.393																																					Colon(147;367 2405 2662 52127)												0													69	68	69					10																	74813333		2203	4300	6503	SO:0001583	missense	0				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.479C>A	10.37:g.74813333G>T	ENSP00000307318:p.Ser160Tyr		C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S160Y	ENST00000307116.2	37	c.479		10	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303489	0.60195	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.49432	0.8;0.8;0.8;0.8;0.8;0.78	5.02	5.02	0.67125	.	0.222293	0.44902	D	0.000407	T	0.60143	0.2246	M	0.66506	2.035	0.51767	D	0.999932	B;P;P	0.52170	0.013;0.951;0.951	B;P;P	0.52909	0.027;0.498;0.713	T	0.60255	-0.7299	10	0.37606	T	0.19	-4.6236	18.335	0.90285	0.0:0.0:1.0:0.0	.	160;160;160	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	Y	160	ENSP00000307318:S160Y;ENSP00000362099:S160Y;ENSP00000411688:S160Y;ENSP00000378353:S160Y;ENSP00000263556:S160Y;ENSP00000414464:S160Y	ENSP00000263556:S160Y	S	-	2	0	P4HA1	74483339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.510000	0.67018	2.337000	0.79520	0.561000	0.74099	TCT	P4HA1	-	NULL	ENSG00000122884		0.393	P4HA1-001	KNOWN	basic	protein_coding	P4HA1	HGNC	protein_coding	OTTHUMT00000048601.1	-	0	36	0	G	NM_000917		74813333	-1	tier1	-	no_errors	ENST00000263556	ensembl	human	known	74_37	missense	27.78	26	10	SNP	1.000	T	T	74813333	G	T	74813333	3	4	183	1	0	0	0	0	1	0	0	0	11395	942	33	3	1240	3	P4HA1	10	74813333	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	12980916	74813333	60721414	123	45585											
TNKS2	80351	genome.wustl.edu	37	chr10	93590750	93590750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgctaagaaaaggagcaaAcatcaatgaaaagactaaag	21	6	9	5	0	1	3	1	1	0	2	1	4	1	4	0	1	3	3	0	1	9	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:93590750A>G	ENST00000371627.4	+	10	1554	c.1175A>G	c.(1174-1176)aAc>aGc	p.N392S		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	392					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N392S(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AAAGGAGCAAACATCAATGAA	0.294																																																	1	Substitution - Missense(1)	prostate(1)											100	92	95					10																	93590750		2203	4299	6502	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1175A>G	10.37:g.93590750A>G	ENSP00000360689:p.Asn392Ser		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.N392S	ENST00000371627.4	37	c.1175	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479844	0.44044	.	.	ENSG00000107854	ENST00000371627	T	0.63580	-0.05	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	T	0.59824	0.2222	L	0.58354	1.805	0.50467	D	0.999879	B	0.14012	0.009	B	0.11329	0.006	T	0.55127	-0.8189	10	0.29301	T	0.29	.	16.1199	0.81342	1.0:0.0:0.0:0.0	.	392	Q9H2K2	TNKS2_HUMAN	S	392	ENSP00000360689:N392S	ENSP00000360689:N392S	N	+	2	0	TNKS2	93580730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.930000	0.92872	2.194000	0.70268	0.533000	0.62120	AAC	TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107854		0.294	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1		0	24	0	A	NM_025235		93590750	1			no_errors	ENST00000371627	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	G	G	93590750	A	G	93590750	3	3	183	1	0	0	0	0	1	0	0	0	16368	43	2	4	1213	4	TNKS2	10	93590750	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	18777417	93590750	41943997	124	45586											
PPRC1	23082	genome.wustl.edu	37	chr10	103900460	103900460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaaagaggttgtggattCtctgaaaattgaaagtggta	14	12	12	3	0	2	3	1	2	1	1	3	4	2	4	0	3	0	2	0	3	5	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:103900460C>T	ENST00000278070.2	+	5	2234	c.2195C>T	c.(2194-2196)tCt>tTt	p.S732F	PPRC1_ENST00000413464.2_Missense_Mutation_p.S732F|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	732					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)		GTTGTGGATTCTCTGAAAATT	0.547																																																	0													107	111	109					10																	103900460		2203	4300	6503	SO:0001583	missense	0			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.2195C>T	10.37:g.103900460C>T	ENSP00000278070:p.Ser732Phe		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S732F	ENST00000278070.2	37	c.2195	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039657	0.19669	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.24723	1.84;1.84	5.1	4.19	0.49359	.	0.847294	0.10277	N	0.694048	T	0.15046	0.0363	N	0.14661	0.345	0.09310	N	1	P;P;P	0.37636	0.468;0.603;0.468	B;B;B	0.34242	0.118;0.178;0.086	T	0.11542	-1.0583	10	0.72032	D	0.01	.	7.3223	0.26533	0.0:0.7402:0.17:0.0898	.	732;612;732	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	F	732	ENSP00000278070:S732F;ENSP00000399743:S732F	ENSP00000278070:S732F	S	+	2	0	PPRC1	103890450	0.981000	0.34729	0.547000	0.28179	0.069000	0.16628	2.284000	0.43478	1.511000	0.48818	0.561000	0.74099	TCT	PPRC1	-	NULL	ENSG00000148840		0.547	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1		0	25	0	C	NM_015062		103900460	1			no_errors	ENST00000278070	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.059	T	T	103900460	C	T	103900460	3	4	183	1	0	0	0	0	1	0	0	0	12452	913	32	3	2213	3	PPRC1	10	103900460	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	10309710	103900460	31634287	125	45587											
COL17A1	1308	genome.wustl.edu	37	chr10	105837199	105837199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgagtttatgtagccgctGctgccatgagtcaggctttg	6	14	12	9	1	1	2	1	2	0	0	1	2	1	2	2	1	3	5	2	1	2	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:105837199G>A	ENST00000353479.5	-	4	473	c.183C>T	c.(181-183)agC>agT	p.S61S	COL17A1_ENST00000393211.3_Silent_p.S61S|COL17A1_ENST00000369733.3_Silent_p.S61S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	61	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTAGCCGCTGCTGCCATGAG	0.522																																																	0													62	56	58					10																	105837199		2203	4300	6503	SO:0001819	synonymous_variant	0			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.183C>T	10.37:g.105837199G>A			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	pfam_Collagen	p.S61	ENST00000353479.5	37	c.183	CCDS7554.1	10																																																																																			COL17A1	-	NULL	ENSG00000065618		0.522	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	-	0	16	0	G	NM_130778, NM_000494		105837199	-1	tier1	-	no_errors	ENST00000353479	ensembl	human	known	74_37	silent	25.00	12	4	SNP	1.000	A	A	105837199	G	A	105837199	2	1	183	1	0	0	0	0	0	0	0	1	3681	1310	46	3		3	COL17A1	10	105837199	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	1936739	105837199	29697548	126	45588											
PDZD8	118987	genome.wustl.edu	37	chr10	119043705	119043705	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgttgggttctggaactGagtatcctgaaaactgtgtt	9	14	11	7	0	1	2	0	2	1	0	2	3	2	3	2	2	2	4	2	2	4	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:119043705G>A	ENST00000334464.5	-	5	2778	c.2539C>T	c.(2539-2541)Cag>Tag	p.Q847*	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	847					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)		TTCTGGAACTGAGTATCCTGA	0.388																																																	0													65	66	65					10																	119043705		2202	4300	6502	SO:0001587	stop_gained	0			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.2539C>T	10.37:g.119043705G>A	ENSP00000334642:p.Gln847*		Q86WE0|Q86WE5|Q9UFF1	Nonsense_Mutation	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.Q847*	ENST00000334464.5	37	c.2539	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.578878	0.98371	.	.	ENSG00000165650	ENST00000334464	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-13.2355	19.43	0.94760	0.0:0.0:1.0:0.0	.	.	.	.	X	847	.	ENSP00000334642:Q847X	Q	-	1	0	PDZD8	119033695	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.590000	0.87494	0.563000	0.77884	CAG	PDZD8	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000165650		0.388	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1		0	38	0	G	NM_173791		119043705	-1			no_errors	ENST00000334464	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	A	A	119043705	G	A	119043705	4	1	183	1	0	0	0	0	0	1	0	0	11744	1299	45	3	929	3	PDZD8	10	119043705	Nonsense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	13206506	119043705	16491042	127	45589											
PDZD8	118987	genome.wustl.edu	37	chr10	119044395	119044395	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccttctctggcttttCaacgagaacatctggttctg	8	13	7	13	1	4	1	1	0	3	1	5	2	4	1	2	2	2	2	2	2	2	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:119044395C>A	ENST00000334464.5	-	5	2088	c.1849G>T	c.(1849-1851)Gaa>Taa	p.E617*	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	617	Pro-rich.				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)		TCTGGCTTTTCAACGAGAACA	0.493																																																	0													115	113	114					10																	119044395		2203	4300	6503	SO:0001587	stop_gained	0			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.1849G>T	10.37:g.119044395C>A	ENSP00000334642:p.Glu617*		Q86WE0|Q86WE5|Q9UFF1	Nonsense_Mutation	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E617*	ENST00000334464.5	37	c.1849	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.477595	0.96291	.	.	ENSG00000165650	ENST00000334464	.	.	.	5.79	4.89	0.63831	.	0.319441	0.34603	N	0.003827	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.0268	14.9614	0.71158	0.0:0.9314:0.0:0.0686	.	.	.	.	X	617	.	ENSP00000334642:E617X	E	-	1	0	PDZD8	119034385	1.000000	0.71417	0.859000	0.33776	0.813000	0.45954	4.311000	0.59147	1.446000	0.47643	0.591000	0.81541	GAA	PDZD8	-	NULL	ENSG00000165650		0.493	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1	-	0	38	0	C	NM_173791		119044395	-1	tier1	-	no_errors	ENST00000334464	ensembl	human	known	74_37	nonsense	31.03	20	9	SNP	0.988	A	A	119044395	C	A	119044395	4	1	183	1	0	0	0	0	0	1	0	0	11744	835	29	3	1619	3	PDZD8	10	119044395	Nonsense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	690	119044395	16490352	128	45590											
DMBT1	1755	genome.wustl.edu	37	chr10	124336078	124336078	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ctgggttgtggctgggccatGtcagctccaggaaatgcctg	6	10	15	10	0	1	0	1	0	0	0	2	1	2	1	3	4	2	3	3	4	1	1	rs539964635		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:124336078G>T	ENST00000338354.3	+	7	553	c.447G>T	c.(445-447)atG>atT	p.M149I	DMBT1_ENST00000344338.3_Missense_Mutation_p.M149I|DMBT1_ENST00000330163.4_Missense_Mutation_p.M149I|DMBT1_ENST00000368955.3_Missense_Mutation_p.M149I|DMBT1_ENST00000368909.3_Missense_Mutation_p.M149I|DMBT1_ENST00000368956.2_Missense_Mutation_p.M149I|DMBT1_ENST00000359586.6_Missense_Mutation_p.M149I			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	149	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGGGCCATGTCAGCTCCAG	0.602																																					Ovarian(182;93 2026 18125 22222 38972)												0													150	158	156					10																	124336078		2124	4256	6380	SO:0001583	missense	0				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.447G>T	10.37:g.124336078G>T	ENSP00000342210:p.Met149Ile		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.M149I	ENST00000338354.3	37	c.447		10	.	.	.	.	.	.	.	.	.	.	g	2.769	-0.256160	0.05829	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	4.41	-1.68	0.08212	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.12475	0.0303	N	0.01656	-0.775	0.09310	N	1	B;B;B;B;B;B	0.33883	0.0;0.0;0.005;0.0;0.041;0.43	B;B;B;B;B;B	0.34346	0.004;0.002;0.012;0.002;0.078;0.18	T	0.14392	-1.0474	9	0.27785	T	0.31	.	0.6541	0.00831	0.2806:0.1093:0.2398:0.3703	.	149;149;149;149;149;149	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	I	149	ENSP00000342210:M149I;ENSP00000343175:M149I;ENSP00000327747:M149I;ENSP00000357905:M149I;ENSP00000357951:M149I;ENSP00000357952:M149I;ENSP00000352593:M149I	ENSP00000331522:M149I	M	+	3	0	DMBT1	124326068	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.055000	0.00083	-0.183000	0.10585	-0.140000	0.14226	ATG	DMBT1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000187908		0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	-	0	185	0	G	NM_004406		124336078	1	tier1	-	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	21.77	97	27	SNP	0.001	T	T	124336078	G	T	124336078	3	4	183	1	0	0	0	0	1	0	0	0	4591	1377	48	3	473	3	DMBT1	10	124336078	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	5291683	124336078	11198669	129	45591											
ADAM12	8038	genome.wustl.edu	37	chr10	127737976	127737976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggtaccaatgactggcCggctggcacctccttgacac	8	9	10	14	1	0	2	0	2	0	0	1	2	1	2	4	4	1	3	4	4	2	3	rs150641628		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:127737976C>T	ENST00000368679.4	-	16	2081	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q	ADAM12_ENST00000467145.1_5'Flank|ADAM12_ENST00000368676.4_Missense_Mutation_p.R591Q	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	591	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AATGACTGGCCGGCTGGCACC	0.512																																																	0								C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	90	95	93		1772,1772	4.3	1	10	dbSNP_134	93	0,8600		0,0,4300	no	missense,missense	ADAM12	NM_003474.4,NM_021641.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	591/910,591/739	127737976	1,13005	2203	4300	6503	SO:0001583	missense	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1772G>A	10.37:g.127737976C>T	ENSP00000357668:p.Arg591Gln		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R591Q	ENST00000368679.4	37	c.1772	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.365753	0.95900	2.27E-4	0.0	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.21932	1.98;1.98	5.2	4.29	0.51040	ADAM, cysteine-rich (2);	0.000000	0.64402	D	0.000001	T	0.37892	0.1020	L	0.41573	1.285	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;0.998;0.999;1.0	T	0.14559	-1.0468	10	0.48119	T	0.1	.	16.0378	0.80642	0.0:0.8658:0.1342:0.0	.	588;588;591;588;591	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	Q	591	ENSP00000357668:R591Q;ENSP00000357665:R591Q	ENSP00000357665:R591Q	R	-	2	0	ADAM12	127727966	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	5.928000	0.70088	1.411000	0.46957	0.655000	0.94253	CGG	ADAM12	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000148848		0.512	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1		0	43	0	C			127737976	-1			no_errors	ENST00000368679	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	127737976	C	T	127737976	3	4	183	1	0	0	0	0	1	0	0	0	236	652	23	1	1097	1	ADAM12	10	127737976	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	3401898	127737976	7796771	130	45592											
DOCK1	1793	genome.wustl.edu	37	chr10	129224199	129224199	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcacggaggcactgaggcCgttccacgagaggatggagg	10	5	17	9	3	1	2	1	1	0	1	2	6	2	5	2	6	0	2	2	6	0	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr10:129224199C>G	ENST00000280333.6	+	47	4884	c.4775C>G	c.(4774-4776)cCg>cGg	p.P1592R		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1592	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)		GCACTGAGGCCGTTCCACGAG	0.488																																																	0													196	196	196					10																	129224199		1962	4155	6117	SO:0001583	missense	0			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.4775C>G	10.37:g.129224199C>G	ENSP00000280333:p.Pro1592Arg		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.P1592R	ENST00000280333.6	37	c.4775		10	.	.	.	.	.	.	.	.	.	.	c	20.8	4.051168	0.75960	.	.	ENSG00000150760	ENST00000280333	T	0.17213	2.29	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	0.986;1.0;0.998	D;D;D	0.97110	0.971;1.0;0.982	T	0.66228	-0.5976	10	0.87932	D	0	.	18.4785	0.90802	0.0:1.0:0.0:0.0	.	1592;1658;1592	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	R	1592	ENSP00000280333:P1592R	ENSP00000280333:P1592R	P	+	2	0	DOCK1	129114189	1.000000	0.71417	0.912000	0.35992	0.586000	0.36452	7.601000	0.82783	2.589000	0.87451	0.450000	0.29827	CCG	DOCK1	-	pfam_DOCK_C,superfamily_Cyt_c-like_dom	ENSG00000150760		0.488	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2		0	27	0	C	NM_001380		129224199	1			no_errors	ENST00000280333	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	G	G	129224199	C	G	129224199	3	3	183	1	0	0	0	0	1	0	0	0	4698	652	23	5	4961	5	DOCK1	10	129224199	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	1486223	129224199	6310548	131	45593											
HRAS	3265	genome.wustl.edu	37	chr11	533535	533535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgccgagattccacagtgCgtgcagccaggtcacacttg	8	8	11	14	2	1	1	1	0	0	1	2	2	2	1	4	1	4	1	4	1	0	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:533535C>T	ENST00000451590.1	-	4	555	c.368G>A	c.(367-369)cGc>cAc	p.R123H	HRAS_ENST00000417302.1_Missense_Mutation_p.R123H|HRAS_ENST00000311189.7_Missense_Mutation_p.R123H|HRAS_ENST00000397596.2_Missense_Mutation_p.R123H|HRAS_ENST00000397594.1_Missense_Mutation_p.R123H|HRAS_ENST00000468682.2_5'Flank	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	123					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCCACAGTGCGTGCAGCCAG	0.622		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																													yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	0													189	168	175					11																	533535		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.368G>A	11.37:g.533535C>T	ENSP00000407586:p.Arg123His		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R123H	ENST00000451590.1	37	c.368	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946965	0.92593	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	3.55	3.55	0.40652	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91002	0.7170	H	0.97587	4.035	0.80722	D	1	D;D	0.67145	0.996;0.966	P;P	0.54706	0.759;0.658	D	0.94264	0.7505	10	0.72032	D	0.01	.	14.6634	0.68891	0.0:1.0:0.0:0.0	.	123;123	P01112-2;P01112	.;RASH_HUMAN	H	123	ENSP00000380722:R123H;ENSP00000380723:R123H;ENSP00000407586:R123H;ENSP00000388246:R123H;ENSP00000309845:R123H	ENSP00000309845:R123H	R	-	2	0	HRAS	523535	1.000000	0.71417	0.843000	0.33291	0.986000	0.74619	4.826000	0.62715	1.997000	0.58415	0.561000	0.74099	CGC	HRAS	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000174775		0.622	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	HGNC	protein_coding	OTTHUMT00000259403.2		0	81	0	C	NM_176795		533535	-1			no_errors	ENST00000311189	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	533535	C	T	533535	3	4	183	1	0	0	0	0	1	0	0	0	7375	768	27	1	276	1	HRAS	11	533535	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09		533535	134472981	132	45594											
MUC2	4583	genome.wustl.edu	37	chr11	1093688	1093688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactggaagcacggggccccCcacccacacaagcacagcac	12	1	9	19	1	0	0	0	0	0	0	0	1	0	1	4	3	3	3	4	3	2	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:1093688C>T	ENST00000441003.2	+	30	5534	c.5507C>T	c.(5506-5508)cCc>cTc	p.P1836L	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.P124L	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)	ACGGGGCCCCCCACCCACACA	0.617																																																	0													174	217	203					11																	1093688		2099	4197	6296	SO:0001583	missense	0			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.5507C>T	11.37:g.1093688C>T	ENSP00000415183:p.Pro1836Leu		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1836L	ENST00000441003.2	37	c.5507		11	.	.	.	.	.	.	.	.	.	.	C	8.232	0.804856	0.16467	.	.	ENSG00000198788	ENST00000441003;ENST00000333592	T;T	0.13420	2.59;3.07	1.32	0.383	0.16239	.	.	.	.	.	T	0.09468	0.0233	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	8	0.87932	D	0	.	3.8328	0.08882	0.0:0.5556:0.0:0.4444	.	1836	E7EUV1	.	L	1836;124	ENSP00000415183:P1836L;ENSP00000331373:P124L	ENSP00000331373:P124L	P	+	2	0	MUC2	1083688	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.238000	0.32707	0.135000	0.18707	0.305000	0.20034	CCC	MUC2	-	NULL	ENSG00000198788		0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	0	118	0	C	NM_002457		1093688	1	tier1	-	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	50.00	24	24	SNP	0.001	T	T	1093688	C	T	1093688	3	4	183	1	0	0	0	0	1	0	0	0	10013	623	22	3	5617	3	MUC2	11	1093688	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	560153	1093688	133912828	133	45595											
HPS5	11234	genome.wustl.edu	37	chr11	18313300	18313300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagactcccttggactccttAcacattcacatgctgtttta	10	14	5	12	0	1	1	1	0	0	1	3	2	3	2	2	1	2	2	2	1	3	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:18313300A>G	ENST00000349215.3	-	16	2406	c.2129T>C	c.(2128-2130)gTa>gCa	p.V710A	HPS5_ENST00000396253.3_Missense_Mutation_p.V596A|HPS5_ENST00000438420.2_Missense_Mutation_p.V596A|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	710					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						TGGACTCCTTACACATTCACA	0.378									Hermansky-Pudlak syndrome																																								0													149	137	141					11																	18313300		2199	4293	6492	SO:0001583	missense	0	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.2129T>C	11.37:g.18313300A>G	ENSP00000265967:p.Val710Ala		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.V710A	ENST00000349215.3	37	c.2129	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	A	4.851	0.158283	0.09236	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.79141	-1.24;-1.24;-1.24	5.74	-3.14	0.05250	.	1.433190	0.03879	N	0.276898	T	0.51126	0.1656	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41822	-0.9487	10	0.07813	T	0.8	.	0.4359	0.00479	0.2333:0.1982:0.2794:0.2891	.	710	Q9UPZ3	HPS5_HUMAN	A	596;596;710	ENSP00000379552:V596A;ENSP00000399590:V596A;ENSP00000265967:V710A	ENSP00000265967:V710A	V	-	2	0	HPS5	18269876	0.000000	0.05858	0.001000	0.08648	0.318000	0.28184	0.045000	0.14013	-0.113000	0.11958	0.533000	0.62120	GTA	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.378	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	-	0	35	0	A	NM_181507		18313300	-1	tier1	-	no_errors	ENST00000349215	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	G	G	18313300	A	G	18313300	3	3	183	1	0	0	0	0	1	0	0	0	7369	391	14	4	1292	4	HPS5	11	18313300	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	17219612	18313300	116693216	134	45596											
ZDHHC13	54503	genome.wustl.edu	37	chr11	19173823	19173823	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatgttaatgcagttgatAagcttttggaagctggttct	11	15	11	4	0	1	1	0	1	1	0	1	3	1	2	0	2	3	6	0	2	4	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:19173823A>C	ENST00000446113.2	+	7	824	c.703A>C	c.(703-705)Aag>Cag	p.K235Q	ZDHHC13_ENST00000532812.1_3'UTR|ZDHHC13_ENST00000399351.3_Missense_Mutation_p.K105Q	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	235					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						TGCAGTTGATAAGCTTTTGGA	0.363																																																	0													137	125	129					11																	19173823		1856	4099	5955	SO:0001583	missense	0			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.703A>C	11.37:g.19173823A>C	ENSP00000400113:p.Lys235Gln		Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase	p.K235Q	ENST00000446113.2	37	c.703	CCDS44550.1	11	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427236	0.62733	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.64991	-0.13;-0.13	5.47	5.47	0.80525	Ankyrin repeat-containing domain (4);	0.298588	0.35615	N	0.003087	T	0.57227	0.2039	N	0.13168	0.305	0.26652	N	0.972075	D	0.63880	0.993	P	0.61477	0.889	T	0.53521	-0.8427	10	0.56958	D	0.05	-5.4335	6.29	0.21054	0.6365:0.2831:0.0804:0.0	.	235	Q8IUH4	ZDH13_HUMAN	Q	235;105	ENSP00000400113:K235Q;ENSP00000382288:K105Q	ENSP00000382288:K105Q	K	+	1	0	ZDHHC13	19130399	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.157000	0.31724	2.087000	0.62958	0.482000	0.46254	AAG	ZDHHC13	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000177054		0.363	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZDHHC13	HGNC	protein_coding	OTTHUMT00000387821.1	-	0	36	0	A	NM_019028		19173823	1	tier1	-	no_errors	ENST00000446113	ensembl	human	known	74_37	missense	33.87	41	21	SNP	1.000	C	C	19173823	A	C	19173823	3	2	183	1	0	0	0	0	1	0	0	0	17651	363	13	4	729	4	ZDHHC13	11	19173823	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	860523	19173823	115832693	135	45597											
CREB3L1	90993	genome.wustl.edu	37	chr11	46342074	46342074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	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	cactccaaggagtggttccaCgacaggtggggtgtgtggcc	7	8	16	10	1	0	0	0	0	0	0	2	2	2	1	3	6	0	1	3	6	1	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:46342074C>A	ENST00000529193.1	+	11	1969	c.1518C>A	c.(1516-1518)caC>caA	p.H506Q	CREB3L1_ENST00000288400.3_Missense_Mutation_p.H506Q			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	506					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)		AGTGGTTCCACGACAGGTGGG	0.637			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													29	34	32					11																	46342074		2060	4181	6241	SO:0001583	missense	0				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.1518C>A	11.37:g.46342074C>A	ENSP00000434939:p.His506Gln		Q8N2D5|Q96CP0	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB	p.H506Q	ENST00000529193.1	37	c.1518	CCDS53620.1	11	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007069	0.35415	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.65549	-0.16;-0.16	4.69	-7.64	0.01286	.	0.717430	0.12931	N	0.427365	T	0.46034	0.1372	L	0.47716	1.5	0.24045	N	0.996062	B;B	0.12013	0.005;0.0	B;B	0.14023	0.01;0.002	T	0.20907	-1.0261	10	0.33940	T	0.23	-10.5361	10.0177	0.42024	0.0:0.197:0.1045:0.6985	.	418;506	Q96BA8-2;Q96BA8	.;CR3L1_HUMAN	Q	506;506;418	ENSP00000434939:H506Q;ENSP00000288400:H506Q	ENSP00000288400:H506Q	H	+	3	2	CREB3L1	46298650	0.000000	0.05858	0.278000	0.24718	0.939000	0.58152	-3.589000	0.00422	-1.462000	0.01907	-0.450000	0.05554	CAC	CREB3L1	-	NULL	ENSG00000157613		0.637	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CREB3L1	HGNC	protein_coding	OTTHUMT00000389702.1	-	0	59	0	C	NM_052854		46342074	1	tier1	-	no_errors	ENST00000288400	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.393	A	A	46342074	C	A	46342074	3	1	183	1	0	0	0	0	1	0	0	0	3863	535	19	2	1560	2	CREB3L1	11	46342074	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	27168251	46342074	88664442	136	45598											
OR5M9	390162	genome.wustl.edu	37	chr11	56230099	56230099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacggattcctcagtgggtCtcctgagatacatgaagatg	10	11	11	9	1	2	3	1	2	1	2	4	5	3	4	2	2	2	0	2	2	3	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:56230099C>A	ENST00000279791.1	-	1	778	c.779G>T	c.(778-780)aGa>aTa	p.R260I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	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)|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)					CTCAGTGGGTCTCCTGAGATA	0.498																																																	0													67	61	63					11																	56230099		2201	4296	6497	SO:0001583	missense	0			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.779G>T	11.37:g.56230099C>A	ENSP00000279791:p.Arg260Ile		Q6IEW5|Q96RB9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R260I	ENST00000279791.1	37	c.779	CCDS31531.1	11	.	.	.	.	.	.	.	.	.	.	C	8.598	0.886256	0.17540	.	.	ENSG00000150269	ENST00000279791	T	0.00123	8.7	3.87	-0.737	0.11129	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000897	T	0.00109	0.0003	N	0.25890	0.77	0.09310	N	1	P	0.41498	0.752	P	0.45794	0.493	T	0.42015	-0.9476	10	0.87932	D	0	-5.5793	2.1456	0.03786	0.3101:0.2856:0.3043:0.1	.	260	Q8NGP3	OR5M9_HUMAN	I	260	ENSP00000279791:R260I	ENSP00000279791:R260I	R	-	2	0	OR5M9	55986675	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.230000	0.09083	0.070000	0.16634	0.542000	0.68232	AGA	OR5M9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000150269		0.498	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M9	HGNC	protein_coding	OTTHUMT00000391638.1	-	0	50	0	C	NM_001004743		56230099	-1	tier1	-	no_errors	ENST00000279791	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.000	A	A	56230099	C	A	56230099	3	1	183	1	0	0	0	0	1	0	0	0	11216	913	32	3	155	3	OR5M9	11	56230099	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	9888025	56230099	78776417	137	45599											
CCDC81	60494	genome.wustl.edu	37	chr11	86108774	86108774	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccagtcagacaaagaagaAggcaccagaggtaggccaat	17	3	12	9	0	1	4	1	0	0	4	1	5	1	4	3	3	0	2	3	3	5	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:86108774A>G	ENST00000445632.2	+	6	1019	c.747A>G	c.(745-747)gaA>gaG	p.E249E	CCDC81_ENST00000528728.1_Silent_p.E32E|CCDC81_ENST00000354755.1_Silent_p.E159E|CCDC81_ENST00000278487.3_Silent_p.E32E	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	249										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)				ACAAAGAAGAAGGCACCAGAG	0.423																																																	0													103	99	100					11																	86108774		2202	4299	6501	SO:0001819	synonymous_variant	0			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.747A>G	11.37:g.86108774A>G			A0AVL7|Q53FW3|Q9H5E5	Silent	SNP	superfamily_IHF-like_DNA-bd_dom	p.E249	ENST00000445632.2	37	c.747	CCDS53691.1	11																																																																																			CCDC81	-	NULL	ENSG00000149201		0.423	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1	-	0	42	0	A	NM_021827		86108774	1	tier1	-	no_errors	ENST00000445632	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.327	G	G	86108774	A	G	86108774	2	3	183	1	0	0	0	0	0	0	0	1	2862	69	3	4		4	CCDC81	11	86108774	Silent	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	29878675	86108774	48897742	138	45600											
CARD18	59082	genome.wustl.edu	37	chr11	105009563	105009563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gtgcaaacccatctttgaggCaagttgagggtcttcttcac	9	12	10	10	0	4	2	1	2	3	0	4	2	4	2	1	2	2	3	1	2	2	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:105009563C>T	ENST00000530950.1	-	2	249	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	CARD18_ENST00000532895.1_Missense_Mutation_p.A45T|CARD18_ENST00000526823.1_Missense_Mutation_p.A45T	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	84	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.A84T(1)		central_nervous_system(1)|ovary(1)	2						ATCTTTGAGGCAAGTTGAGGG	0.413																																																	1	Substitution - Missense(1)	central_nervous_system(1)											240	222	228					11																	105009563		1904	4118	6022	SO:0001583	missense	0			AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.250G>A	11.37:g.105009563C>T	ENSP00000436691:p.Ala84Thr		A2RRF8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.A84T	ENST00000530950.1	37	c.250	CCDS53705.1	11	.	.	.	.	.	.	.	.	.	.	.	14.95	2.689803	0.48097	.	.	ENSG00000255501	ENST00000530950;ENST00000526823;ENST00000532895	T;T;T	0.26373	1.74;1.74;1.74	2.58	2.58	0.30949	DEATH-like (2);Caspase Recruitment (3);	0.353118	0.30428	N	0.009641	T	0.44074	0.1276	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.08086	-1.0739	9	0.87932	D	0	.	8.795	0.34874	0.0:1.0:0.0:0.0	.	84	P57730	CAR18_HUMAN	T	84;45;45	ENSP00000436691:A84T;ENSP00000437035:A45T;ENSP00000437187:A45T	ENSP00000437035:A45T	A	-	1	0	CARD18	104514773	0.000000	0.05858	0.006000	0.13384	0.014000	0.08584	0.607000	0.24209	1.748000	0.51833	0.558000	0.71614	GCC	CARD18	-	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	ENSG00000255501		0.413	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD18	HGNC	protein_coding	OTTHUMT00000388183.2		0	50	0	C	NM_021571		105009563	-1			no_errors	ENST00000530950	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.006	T	T	105009563	C	T	105009563	3	4	183	1	0	0	0	0	1	0	0	0	2656	710	25	3	26	3	CARD18	11	105009563	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	18900789	105009563	29996953	139	45601											
C11orf61	79684	genome.wustl.edu	37	chr11	124642890	124642890	+	Splice_Site	SNP	T	T	C	0	1	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	aaggtgaagcatctacttacTgtgcttcttcagaagactct	11	13	8	9	0	4	3	1	1	3	2	4	3	4	3	0	1	4	2	0	1	5	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:124642890T>C	ENST00000374979.3	-	3	835	c.827A>G	c.(826-828)cAg>cGg	p.Q276R	MSANTD2_ENST00000524950.1_3'UTR|MSANTD2_ENST00000239614.4_Splice_Site_p.Q224R|MSANTD2_ENST00000526629.1_Splice_Site_p.Q46R			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	276																	ATCTACTTACTGTGCTTCTTC	0.333																																																	0													104	99	101					11																	124642890		2199	4297	6496	SO:0001630	splice_region_variant	0			AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 61"	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.827+1A>G	11.37:g.124642890T>C			B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	NULL	p.Q276R	ENST00000374979.3	37	c.827		11	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223944	0.58668	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	5.87	5.87	0.94306	.	0.126827	0.53938	D	0.000041	T	0.57858	0.2082	N	0.14661	0.345	0.80722	D	1	B;P	0.48294	0.293;0.908	B;P	0.61397	0.035;0.888	T	0.57631	-0.7778	8	.	.	.	-10.1287	14.8524	0.70306	0.0:0.0:0.0:1.0	.	276;224	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	R	224;276;46	.	.	Q	-	2	0	C11orf61	124148100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.414000	0.66405	2.244000	0.73946	0.533000	0.62120	CAG	MSANTD2	-	NULL	ENSG00000120458		0.333	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	MSANTD2	HGNC	protein_coding	OTTHUMT00000387084.1	-	0	54	0	T	NM_024631	Missense_Mutation	124642890	-1	tier1	-	no_errors	ENST00000374979	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	C	C	124642890	T	C	124642890	5	2	183	1	0	0	0	0	0	0	1	0	1658	1594	55	4	860	4	C11orf61	11	124642890	Splice_Site	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	19633327	124642890	10363626	140	45602											
NCAPD3	23310	genome.wustl.edu	37	chr11	134054839	134054839	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttaggaagatgctttgcaAtatgcccaatcacacagaga	14	10	8	9	0	2	2	1	0	1	2	2	4	2	3	1	1	3	2	1	1	5	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr11:134054839A>T	ENST00000534548.2	-	18	2358	c.2294T>A	c.(2293-2295)aTt>aAt	p.I765N	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	765					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)		ATGCTTTGCAATATGCCCAAT	0.438																																																	0													314	321	319					11																	134054839		2201	4297	6498	SO:0001583	missense	0			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.2294T>A	11.37:g.134054839A>T	ENSP00000433681:p.Ile765Asn		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.I765N	ENST00000534548.2	37	c.2294	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352728	0.61293	.	.	ENSG00000151503	ENST00000534548	T	0.69806	-0.43	5.86	4.74	0.60224	Armadillo-like helical (1);Armadillo-type fold (1);	0.144054	0.64402	D	0.000007	T	0.60327	0.2260	M	0.69823	2.125	0.80722	D	1	P	0.39940	0.696	B	0.32022	0.139	T	0.61272	-0.7096	10	0.45353	T	0.12	-16.9423	10.3709	0.44053	0.9264:0.0:0.0736:0.0	.	765	P42695	CNDD3_HUMAN	N	765	ENSP00000433681:I765N	ENSP00000431612:I765N	I	-	2	0	NCAPD3	133560049	1.000000	0.71417	0.930000	0.37139	0.973000	0.67179	6.057000	0.71119	1.055000	0.40461	0.533000	0.62120	ATT	NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.438	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	-	0	36	0	A	NM_015261		134054839	-1	tier1	-	no_errors	ENST00000534548	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T	T	134054839	A	T	134054839	3	4	183	1	0	0	0	0	1	0	0	0	10245	101	4	5	2274	5	NCAPD3	11	134054839	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	9411949	134054839	951677	141	45603											
CD27	939	genome.wustl.edu	37	chr12	6554270	6554270	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcagggaccatggcacgGccacatccctggtggctgtg	6	7	16	12	1	0	0	0	0	0	0	1	1	1	1	3	6	0	3	3	6	0	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:6554270G>A	ENST00000266557.3	+	1	238	c.9G>A	c.(7-9)cgG>cgA	p.R3R	CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	3					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CCATGGCACGGCCACATCCCT	0.637																																																	0													17	22	20					12																	6554270		2202	4299	6501	SO:0001819	synonymous_variant	0			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"Tumor necrosis factor receptor superfamily", "CD molecules"	11922	protein-coding gene	gene with protein product		186711	"tumor necrosis factor receptor superfamily, member 7"	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.9G>A	12.37:g.6554270G>A			B2RDZ0	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt	p.R3	ENST00000266557.3	37	c.9	CCDS8545.1	12																																																																																			CD27	-	prints_TNFR_7	ENSG00000139193		0.637	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD27	HGNC	protein_coding	OTTHUMT00000399258.1	-	0	58	0	G			6554270	1	tier1	-	no_errors	ENST00000266557	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.013	A	A	6554270	G	A	6554270	2	1	183	1	0	0	0	0	0	0	0	1	2997	1190	42	3		3	CD27	12	6554270	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		6554270	127297625	142	45604											
FAM90A1	55138	genome.wustl.edu	37	chr12	8376138	8376138	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtggaggagagccttcctCtgcgggtcttgtggcctgca	5	11	15	10	1	2	1	0	0	2	1	3	3	3	2	3	4	3	1	3	4	0	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:8376138C>T	ENST00000538603.1	-	6	897	c.339G>A	c.(337-339)caG>caA	p.Q113Q	FAM90A1_ENST00000307435.6_Silent_p.Q113Q	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	113							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GAGCCTTCCTCTGCGGGTCTT	0.557																																																	0													37	35	36					12																	8376138		2203	4298	6501	SO:0001819	synonymous_variant	0			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.339G>A	12.37:g.8376138C>T			D3DUU9|Q9NVZ6	Silent	SNP	NULL	p.Q113	ENST00000538603.1	37	c.339	CCDS31738.1	12																																																																																			FAM90A1	-	NULL	ENSG00000171847		0.557	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM90A1	HGNC	protein_coding	OTTHUMT00000400468.1	-	0	206	0	C	NM_018088		8376138	-1	tier1	-	no_errors	ENST00000307435	ensembl	human	known	74_37	silent	47.43	92	83	SNP	0.000	T	T	8376138	C	T	8376138	2	4	183	1	0	0	0	0	0	0	0	1	5672	912	32	3		3	FAM90A1	12	8376138	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	1821868	8376138	125475757	143	45605											
HIST4H4	121504	genome.wustl.edu	37	chr12	14923992	14923992	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctcccttacccagcccCttgccacctttacctcgccc	4	9	5	23	2	0	0	0	0	0	0	2	0	1	0	9	0	4	0	9	0	2	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:14923992C>T	ENST00000539745.1	-	1	73	c.27G>A	c.(25-27)aaG>aaA	p.K9K	HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	9					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						TACCCAGCCCCTTGCCACCTT	0.602																																																	0													45	52	49					12																	14923992		2203	4300	6503	SO:0001819	synonymous_variant	0			AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"Histones / Replication-dependent"	20510	protein-coding gene	gene with protein product		615069	"histone 4, H4"			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.27G>A	12.37:g.14923992C>T			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.K9	ENST00000539745.1	37	c.27	CCDS8665.1	12																																																																																			HIST4H4	-	superfamily_Histone-fold,prints_Histone_H4	ENSG00000197837		0.602	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST4H4	HGNC	protein_coding	OTTHUMT00000400844.1		0	45	0	C	NM_175054		14923992	-1			no_errors	ENST00000358064	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.973	T	T	14923992	C	T	14923992	2	4	183	1	0	0	0	0	0	0	0	1	7212	680	24	3		3	HIST4H4	12	14923992	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	6547854	14923992	118927903	144	45606											
OVCH1	341350	genome.wustl.edu	37	chr12	29604479	29604479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaagcctctaggcttttCtagctctgcttcagagcaac	12	11	7	11	0	4	1	1	0	3	1	4	1	4	1	1	1	5	4	1	1	6	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:29604479C>G	ENST00000318184.5	-	22	2553	c.2554G>C	c.(2554-2556)Gaa>Caa	p.E852Q	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	852	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)					CTAGGCTTTTCTAGCTCTGCT	0.438																																																	0													46	43	44					12																	29604479		1844	4099	5943	SO:0001583	missense	0			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.2554G>C	12.37:g.29604479C>G	ENSP00000326708:p.Glu852Gln			Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.E852Q	ENST00000318184.5	37	c.2554		12	.	.	.	.	.	.	.	.	.	.	C	0.364	-0.937596	0.02340	.	.	ENSG00000187950	ENST00000318184	T	0.33865	1.39	3.02	1.1	0.20463	CUB (5);	.	.	.	.	T	0.16938	0.0407	N	0.12182	0.205	0.09310	N	1	B	0.29909	0.261	B	0.31191	0.125	T	0.26121	-1.0112	9	0.19590	T	0.45	.	4.0566	0.09819	0.0:0.6125:0.2472:0.1403	.	852	Q7RTY7	OVCH1_HUMAN	Q	852	ENSP00000326708:E852Q	ENSP00000326708:E852Q	E	-	1	0	OVCH1	29495746	0.001000	0.12720	0.001000	0.08648	0.094000	0.18550	-0.423000	0.07034	0.289000	0.22422	0.561000	0.74099	GAA	OVCH1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000187950		0.438	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2		0	27	0	C	NM_183378		29604479	-1			no_errors	ENST00000318184	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.001	G	G	29604479	C	G	29604479	3	3	183	1	0	0	0	0	1	0	0	0	11362	922	32	5	878	5	OVCH1	12	29604479	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	14680487	29604479	104247416	145	45607											
SLC4A8	9498	genome.wustl.edu	37	chr12	51890822	51890822	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatctctgtttctctaagCgagagctgagctggctagat	8	13	12	8	1	2	3	0	1	2	2	4	5	2	4	0	2	3	4	0	2	2	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:51890822C>T	ENST00000453097.2	+	22	3212	c.2995C>T	c.(2995-2997)Cga>Tga	p.R999*	SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.R1026*	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)		TTTCTCTAAGCGAGAGCTGAG	0.408																																																	0													97	98	97					12																	51890822		2203	4300	6503	SO:0001587	stop_gained	0			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.2995C>T	12.37:g.51890822C>T	ENSP00000405812:p.Arg999*			Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R999*	ENST00000453097.2	37	c.2995	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	C	40	8.173810	0.98688	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8313	0.92141	0.0:1.0:0.0:0.0	.	.	.	.	X	1026;999;999;946	.	ENSP00000315789:R999X	R	+	1	2	SLC4A8	50177089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.562000	0.36353	2.824000	0.97209	0.655000	0.94253	CGA	SLC4A8	-	tigrfam_HCO3_transpt_euk	ENSG00000050438		0.408	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	-	0	64	0	C	NM_004858		51890822	1	tier1	-	no_errors	ENST00000453097	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	1.000	T	T	51890822	C	T	51890822	4	4	183	1	0	0	0	0	0	1	0	0	14704	760	27	1	3081	1	SLC4A8	12	51890822	Nonsense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	22286343	51890822	81961073	146	45608											
KRT82	3888	genome.wustl.edu	37	chr12	52800029	52800029	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaaactctgactgccacaCctggagcctggctggaaaga	11	7	11	12	0	1	3	0	2	1	1	1	5	1	5	3	3	3	1	3	3	2	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:52800029C>T	ENST00000257974.2	-	1	110	c.33G>A	c.(31-33)agG>agA	p.R11R	RP11-1020M18.10_ENST00000548135.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	11	Head.					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)		GACTGCCACACCTGGAGCCTG	0.612																																																	0													35	31	33					12																	52800029		2202	4299	6501	SO:0001819	synonymous_variant	0			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.33G>A	12.37:g.52800029C>T				Silent	SNP	pfam_IF,prints_Keratin_II,prints_Keratin_I	p.R11	ENST00000257974.2	37	c.33	CCDS8826.1	12																																																																																			KRT82	-	NULL	ENSG00000161850		0.612	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	HGNC	protein_coding	OTTHUMT00000405189.1	-	0	48	0	C	NM_033033		52800029	-1	tier1	-	no_errors	ENST00000257974	ensembl	human	known	74_37	silent	45.83	13	11	SNP	0.317	T	T	52800029	C	T	52800029	2	4	183	1	0	0	0	0	0	0	0	1	8523	506	18	3		3	KRT82	12	52800029	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	909207	52800029	81051866	147	45609											
TIMELESS	8914	genome.wustl.edu	37	chr12	56817448	56817448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcctcctcctcctcCtcttcttcttcctctgcccc	0	17	1	23	0	5	0	0	0	5	0	12	0	12	0	9	0	1	0	9	0	0	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:56817448C>T	ENST00000553532.1	-	17	2160	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Silent_p.E669E					timeless circadian clock									p.E670E(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						cctcctcctcctcttcttctt	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											51	49	50					12																	56817448		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2010G>A	12.37:g.56817448C>T				Silent	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E670	ENST00000553532.1	37	c.2010	CCDS8918.1	12																																																																																			TIMELESS	-	NULL	ENSG00000111602		0.527	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	-	0	31	0	C	NM_003920		56817448	-1	tier1	-	no_errors	ENST00000553532	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.863	T	T	56817448	C	T	56817448	2	4	183	1	0	0	0	0	0	0	0	1	15951	680	24	3		3	TIMELESS	12	56817448	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	4017419	56817448	77034447	148	45610											
NACA	4666	genome.wustl.edu	37	chr12	57111073	57111073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgactggagttgctggagccTttttgggggagagaggaatc	8	11	17	5	0	0	2	0	1	0	1	1	7	0	6	1	5	2	2	1	5	1	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:57111073T>C	ENST00000454682.1	-	3	4522	c.4241A>G	c.(4240-4242)aAg>aGg	p.K1414R	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1414	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						TGCTGGAGCCTTTTTGGGGGA	0.592			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													23	24	24					12																	57111073		1567	3581	5148	SO:0001583	missense	0			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.4241A>G	12.37:g.57111073T>C	ENSP00000403817:p.Lys1414Arg			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.K1414R	ENST00000454682.1	37	c.4241		12	.	.	.	.	.	.	.	.	.	.	T	7.379	0.628419	0.14257	.	.	ENSG00000196531	ENST00000454682	T	0.50548	0.74	2.49	-1.14	0.09741	.	.	.	.	.	T	0.26268	0.0641	.	.	.	0.09310	N	1	B	0.22346	0.068	B	0.12837	0.008	T	0.18840	-1.0324	7	.	.	.	.	6.4071	0.21670	0.0:0.3851:0.0:0.6149	.	1414	E9PAV3	.	R	1414	ENSP00000403817:K1414R	.	K	-	2	0	NACA	55397340	0.015000	0.18098	0.003000	0.11579	0.394000	0.30568	-0.337000	0.07852	-0.107000	0.12088	0.240000	0.17902	AAG	NACA	-	NULL	ENSG00000196531		0.592	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		-	0	121	0	T	NM_005594		57111073	-1	tier1	-	no_errors	ENST00000454682	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.002	C	C	57111073	T	C	57111073	3	2	183	1	0	0	0	0	1	0	0	0	10171	1609	56	4	2023	4	NACA	12	57111073	Missense_Mutation	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	293625	57111073	76740822	149	45611											
R3HDM2	22864	genome.wustl.edu	37	chr12	57663112	57663112	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtttctcttaccaggctGctgggatggctgaggcagct	5	12	15	9	0	1	1	0	1	1	0	2	2	1	2	1	5	3	6	1	5	1	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:57663112G>A	ENST00000347140.3	-	16	2056	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	R3HDM2_ENST00000403821.2_Nonsense_Mutation_p.Q590*|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Nonsense_Mutation_p.Q570*|R3HDM2_ENST00000441731.2_Nonsense_Mutation_p.Q251*|R3HDM2_ENST00000358907.2_Nonsense_Mutation_p.Q556*|R3HDM2_ENST00000413953.2_Nonsense_Mutation_p.Q283*|R3HDM2_ENST00000546843.1_5'Flank			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	556	Gln-rich.					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						TTACCAGGCTGCTGGGATGGC	0.517																																																	0													78	83	81					12																	57663112		2203	4300	6503	SO:0001587	stop_gained	0			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.1666C>T	12.37:g.57663112G>A	ENSP00000317903:p.Gln556*		Q2M1T9|Q3ZCT5	Nonsense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q556*	ENST00000347140.3	37	c.1666	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	G	38	6.721693	0.97788	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.596	17.5997	0.88022	0.0:0.0:1.0:0.0	.	.	.	.	X	283;283;556;570;556;251;321;590	.	ENSP00000317903:Q556X	Q	-	1	0	R3HDM2	55949379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.869000	0.92326	2.753000	0.94483	0.655000	0.94253	CAG	R3HDM2	-	NULL	ENSG00000179912		0.517	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2		0	77	0	G	NM_014925		57663112	-1			no_errors	ENST00000347140	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	1.000	A	A	57663112	G	A	57663112	4	1	183	1	0	0	0	0	0	1	0	0	12933	1328	46	3	1300	3	R3HDM2	12	57663112	Nonsense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	552039	57663112	76188783	150	45612											
FGD6	55785	genome.wustl.edu	37	chr12	95478413	95478413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaggctgactctccaaagCggccacgtcctaatttaaaa	14	9	7	11	2	1	1	0	1	1	0	3	1	2	1	3	2	1	1	3	2	6	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:95478413C>T	ENST00000343958.4	-	20	4340	c.4117G>A	c.(4117-4119)Gct>Act	p.A1373T		NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1373	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCTCCAAAGCGGCCACGTCC	0.313																																																	0													66	70	68					12																	95478413		2203	4300	6503	SO:0001583	missense	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.4117G>A	12.37:g.95478413C>T	ENSP00000344446:p.Ala1373Thr		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.A1373T	ENST00000343958.4	37	c.4117	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	C	30	5.054735	0.93793	.	.	ENSG00000180263	ENST00000343958	T	0.13420	2.59	4.98	4.98	0.66077	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.44902	D	0.000412	T	0.45316	0.1336	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55237	-0.8172	10	0.87932	D	0	-14.8836	18.2654	0.90051	0.0:1.0:0.0:0.0	.	1373	Q6ZV73	FGD6_HUMAN	T	1373	ENSP00000344446:A1373T	ENSP00000344446:A1373T	A	-	1	0	FGD6	94002544	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.487000	0.81328	2.295000	0.77249	0.491000	0.48974	GCT	FGD6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000180263		0.313	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	-	0	61	0	C	NM_018351		95478413	-1	tier1	-	no_errors	ENST00000343958	ensembl	human	known	74_37	missense	27.42	45	17	SNP	1.000	T	T	95478413	C	T	95478413	3	4	183	1	0	0	0	0	1	0	0	0	5859	768	27	1	183	1	FGD6	12	95478413	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	37815301	95478413	38373482	151	45613											
ELK3	2004	genome.wustl.edu	37	chr12	96641019	96641019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagaagctggaggagccgcCcgaagacagcccccccgtgg	9	2	16	14	3	0	2	0	0	0	2	0	6	0	4	5	4	3	1	5	4	2	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:96641019C>T	ENST00000228741.3	+	3	835	c.509C>T	c.(508-510)cCc>cTc	p.P170L	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	170					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|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 corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GAGGAGCCGCCCGAAGACAGC	0.572																																																	0													49	51	51					12																	96641019		2203	4300	6503	SO:0001583	missense	0			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.509C>T	12.37:g.96641019C>T	ENSP00000228741:p.Pro170Leu		B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.P170L	ENST00000228741.3	37	c.509	CCDS9060.1	12	.	.	.	.	.	.	.	.	.	.	C	3.653	-0.071188	0.07228	.	.	ENSG00000111145	ENST00000228741	T	0.28454	1.61	5.65	1.17	0.20885	.	0.909752	0.09650	N	0.773819	T	0.13500	0.0327	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26292	-1.0107	10	0.34782	T	0.22	.	3.0065	0.06030	0.1163:0.4851:0.1202:0.2785	.	170	P41970	ELK3_HUMAN	L	170	ENSP00000228741:P170L	ENSP00000228741:P170L	P	+	2	0	ELK3	95165150	0.005000	0.15991	0.002000	0.10522	0.613000	0.37349	0.556000	0.23438	0.317000	0.23160	0.462000	0.41574	CCC	ELK3	-	NULL	ENSG00000111145		0.572	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK3	HGNC	protein_coding	OTTHUMT00000408694.1	-	0	33	0	C	NM_005230		96641019	1	tier1	-	no_errors	ENST00000228741	ensembl	human	known	74_37	missense	64.29	10	18	SNP	0.000	T	T	96641019	C	T	96641019	3	4	183	1	0	0	0	0	1	0	0	0	5076	623	22	3	515	3	ELK3	12	96641019	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	1162606	96641019	37210876	152	45614											
PLBD2	196463	genome.wustl.edu	37	chr12	113806939	113806939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggccttcctggagctGggcacaagtggccaatacaa	10	7	14	10	0	0	0	0	0	0	0	1	1	1	1	3	5	2	2	3	5	4	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:113806939G>A	ENST00000280800.3	+	2	340	c.309G>A	c.(307-309)ctG>ctA	p.L103L	PLBD2_ENST00000545182.2_Silent_p.L103L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	103					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						TCCTGGAGCTGGGCACAAGTG	0.597																																																	0													62	54	57					12																	113806939		2203	4299	6502	SO:0001819	synonymous_variant	0			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.309G>A	12.37:g.113806939G>A			F5H5E2	Silent	SNP	pfam_PLipase_B-like	p.L103	ENST00000280800.3	37	c.309	CCDS9168.1	12																																																																																			PLBD2	-	pfam_PLipase_B-like	ENSG00000151176		0.597	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD2	HGNC	protein_coding	OTTHUMT00000404835.1	-	0	38	0	G	NM_173542		113806939	1	tier1	-	no_errors	ENST00000280800	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.948	A	A	113806939	G	A	113806939	2	1	183	1	0	0	0	0	0	0	0	1	12065	1335	47	3		3	PLBD2	12	113806939	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	17165920	113806939	20044956	153	45615											
RIMBP2	23504	genome.wustl.edu	37	chr12	130926544	130926544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactggtacttgtacctggcGgccttgacgatgtcgaactc	8	11	11	11	3	0	1	0	1	0	0	2	3	0	1	2	3	4	2	2	3	4	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr12:130926544G>A	ENST00000261655.4	-	8	1465	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	RIMBP2_ENST00000536002.1_Silent_p.A342A|RIMBP2_ENST00000535703.1_Silent_p.A342A	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	434	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TGTACCTGGCGGCCTTGACGA	0.572																																																	0													129	94	106					12																	130926544		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1302C>T	12.37:g.130926544G>A			Q96ID2	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.A434	ENST00000261655.4	37	c.1302	CCDS31925.1	12																																																																																			RIMBP2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000060709		0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0	67	0	G	NM_015347		130926544	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	silent	63.27	18	31	SNP	0.278	A	A	130926544	G	A	130926544	2	1	183	1	0	0	0	0	0	0	0	1	13408	1103	39	1		1	RIMBP2	12	130926544	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	17119605	130926544	2925351	154	45616											
SACS	26278	genome.wustl.edu	37	chr13	23915309	23915309	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctagccaagaacttcctcagGgcatctttgtgtgttggaag	9	12	11	9	0	2	1	1	0	1	1	3	2	3	2	2	2	2	2	2	2	4	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr13:23915309G>C	ENST00000382292.3	-	9	2979	c.2706C>G	c.(2704-2706)gcC>gcG	p.A902A	SACS_ENST00000402364.1_Silent_p.A152A|SACS_ENST00000382298.3_Silent_p.A902A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	902					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)		ACTTCCTCAGGGCATCTTTGT	0.378																																																	0													143	145	144					13																	23915309		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2706C>G	13.37:g.23915309G>C			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.A902	ENST00000382292.3	37	c.2706	CCDS9300.2	13																																																																																			SACS	-	NULL	ENSG00000151835		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3		0	55	0	G	NM_014363		23915309	-1			no_errors	ENST00000382292	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.991	C	C	23915309	G	C	23915309	2	2	183	1	0	0	0	0	0	0	0	1	13849	1219	43	5		5	SACS	13	23915309	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		23915309	91254569	155	45617											
GPR12	2835	genome.wustl.edu	37	chr13	27333515	27333515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacgtgaccgtcctctcCgaatggtacgtcagagcgta	10	9	11	11	5	2	2	1	1	1	1	4	3	3	2	3	1	3	3	3	1	5	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr13:27333515C>T	ENST00000381436.2	-	1	912	c.450G>A	c.(448-450)tcG>tcA	p.S150S	GPR12_ENST00000405846.3_Silent_p.S150S			P47775	GPR12_HUMAN	G protein-coupled receptor 12	150					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CCGTCCTCTCCGAATGGTACG	0.582																																																	0													94	77	83					13																	27333515		2203	4300	6503	SO:0001819	synonymous_variant	0			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.450G>A	13.37:g.27333515C>T			Q5T8P3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn	p.S150	ENST00000381436.2	37	c.450	CCDS9319.1	13																																																																																			GPR12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan	ENSG00000132975		0.582	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR12	HGNC	protein_coding	OTTHUMT00000044257.2	-	0	24	0	C			27333515	-1	tier1	-	no_errors	ENST00000381436	ensembl	human	known	74_37	silent	57.14	6	8	SNP	0.820	T	T	27333515	C	T	27333515	2	4	183	1	0	0	0	0	0	0	0	1	6661	639	23	1		1	GPR12	13	27333515	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	3418206	27333515	87836363	156	45618											
SLC7A1	6541	genome.wustl.edu	37	chr13	30096468	30096468	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccagcaacggcacccGaggctaatgtggcgattatt	11	8	10	12	3	1	0	1	0	0	0	1	2	1	0	2	3	2	3	2	3	3	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr13:30096468G>T	ENST00000380752.5	-	8	1561	c.1175C>A	c.(1174-1176)tCg>tAg	p.S392*	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	392					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)	p.S392*(1)		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)	AACGGCACCCGAGGCTAATGT	0.458																																																	1	Substitution - Nonsense(1)	lung(1)											292	264	274					13																	30096468		2203	4300	6503	SO:0001587	stop_gained	0			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.1175C>A	13.37:g.30096468G>T	ENSP00000370128:p.Ser392*		Q5JR50	Nonsense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.S392*	ENST00000380752.5	37	c.1175	CCDS9333.1	13	.	.	.	.	.	.	.	.	.	.	G	38	7.126406	0.98081	.	.	ENSG00000139514	ENST00000380752	.	.	.	4.89	4.89	0.63831	.	0.056250	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5927	0.88001	0.0:0.0:1.0:0.0	.	.	.	.	X	392	.	ENSP00000370128:S392X	S	-	2	0	SLC7A1	28994468	1.000000	0.71417	0.984000	0.44739	0.154000	0.21943	9.539000	0.98076	2.717000	0.92951	0.650000	0.86243	TCG	SLC7A1	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	ENSG00000139514		0.458	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A1	HGNC	protein_coding	OTTHUMT00000044337.2		0	61	0	G	NM_003045		30096468	-1			no_errors	ENST00000380752	ensembl	human	known	74_37	nonsense	6.52	43	3	SNP	1.000	T	T	30096468	G	T	30096468	4	4	183	1	0	0	0	0	0	1	0	0	14737	1059	37	2	738	2	SLC7A1	13	30096468	Nonsense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	2762953	30096468	85073410	157	45619											
PCDH20	64881	genome.wustl.edu	37	chr13	61986436	61986436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacttttctttctcttctCggtccagctgagtagaaact	7	17	7	10	1	3	2	0	1	3	1	6	2	4	2	1	1	3	3	1	1	3	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr13:61986436C>A	ENST00000409186.1	-	5	3901	c.1796G>T	c.(1795-1797)cGa>cTa	p.R599L	PCDH20_ENST00000409204.4_Missense_Mutation_p.R599L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	599	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)		TTTCTCTTCTCGGTCCAGCTG	0.458																																																	0													113	110	111					13																	61986436		2203	4300	6503	SO:0001583	missense	0			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.1796G>T	13.37:g.61986436C>A	ENSP00000386653:p.Arg599Leu		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R599L	ENST00000409186.1	37	c.1796	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090242	0.76756	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01629	4.72;4.72	5.94	5.94	0.96194	.	0.000000	0.56097	D	0.000034	T	0.23846	0.0577	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45131	-0.9282	10	0.72032	D	0.01	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	599	A8K1K9	.	L	599;599;345	ENSP00000387250:R599L;ENSP00000386653:R599L	ENSP00000351500:R345L	R	-	2	0	PCDH20	60884437	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.745000	0.85046	2.812000	0.96745	0.557000	0.71058	CGA	PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197991		0.458	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2		0	19	0	C	NM_022843		61986436	-1			no_errors	ENST00000409186	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A	A	61986436	C	A	61986436	3	1	183	1	0	0	0	0	1	0	0	0	11554	884	31	2	1063	2	PCDH20	13	61986436	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	31889968	61986436	53183442	158	45620											
C13orf39	196541	genome.wustl.edu	37	chr13	103338488	103338488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatctaaaaattcatagtCggtgctgaacctgaatttgt	12	16	7	6	1	2	2	1	2	1	0	3	2	2	2	1	1	2	1	1	1	7	6			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr13:103338488C>T	ENST00000267273.6	-	4	693	c.688G>A	c.(688-690)Gac>Aac	p.D230N		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	230					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)	p.D230N(1)		breast(1)|large_intestine(3)|lung(2)|skin(1)	7						AATTCATAGTCGGTGCTGAAC	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											69	65	67					13																	103338488		2203	4300	6503	SO:0001583	missense	0				CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"chromosome 13 open reading frame 39"	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.688G>A	13.37:g.103338488C>T	ENSP00000267273:p.Asp230Asn			Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.D230N	ENST00000267273.6	37	c.688	CCDS32003.1	13	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000631	0.93227	.	.	ENSG00000139780	ENST00000267273	T	0.08634	3.07	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.31308	-0.9948	10	0.59425	D	0.04	-6.6016	19.7905	0.96454	0.0:1.0:0.0:0.0	.	230	Q5VZV1	MT21C_HUMAN	N	230	ENSP00000267273:D230N	ENSP00000267273:D230N	D	-	1	0	METTL21C	102136489	1.000000	0.71417	0.378000	0.26068	0.814000	0.46013	7.447000	0.80620	2.691000	0.91804	0.650000	0.86243	GAC	METTL21C	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000139780		0.433	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21C	HGNC	protein_coding	OTTHUMT00000045682.2		0	28	0	C	NM_001010977		103338488	-1			no_errors	ENST00000267273	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.999	T	T	103338488	C	T	103338488	3	4	183	1	0	0	0	0	1	0	0	0	1737	884	31	1	110	1	C13orf39	13	103338488	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	41352052	103338488	11831390	159	45621											
ARHGEF7	8874	genome.wustl.edu	37	chr13	111935538	111935538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcacgcagacagcaagcccgCgccgctgacgcccgcctacc	8	2	11	20	6	0	2	0	1	0	1	0	2	0	2	5	0	3	4	5	0	2	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr13:111935538C>T	ENST00000375741.2	+	17	2091	c.1841C>T	c.(1840-1842)gCg>gTg	p.A614V	ARHGEF7_ENST00000375723.1_Missense_Mutation_p.A436V|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.A511V|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.A436V|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.A436V|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.A358V|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.A436V|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.A564V|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.A521V|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.A593V	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	614					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)			AGCAAGCCCGCGCCGCTGACG	0.687																																																	0													36	34	35					13																	111935538		2186	4287	6473	SO:0001583	missense	0			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.1841C>T	13.37:g.111935538C>T	ENSP00000364893:p.Ala614Val		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.A614V	ENST00000375741.2	37	c.1841	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	C	0.997	-0.692034	0.03303	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.61274	0.69;0.69;0.69;0.66;0.7;0.64;0.66;0.66;0.71;0.64;0.12	4.43	0.593	0.17478	.	0.486626	0.23074	N	0.052223	T	0.24122	0.0584	N	0.02011	-0.69	0.80722	D	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.03898	-1.0994	10	0.15952	T	0.53	.	7.7635	0.28965	0.0:0.2755:0.0:0.7245	.	358;511;436;564;614;593	E9PDQ5;B7Z6G2;Q14155-6;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	V	593;614;564;521;591;436;436;436;436;511;436;358	ENSP00000325994:A593V;ENSP00000364893:A614V;ENSP00000364891:A564V;ENSP00000359657:A521V;ENSP00000418067:A436V;ENSP00000218789:A436V;ENSP00000364888:A436V;ENSP00000397068:A436V;ENSP00000364889:A511V;ENSP00000364875:A436V;ENSP00000417596:A358V	ENSP00000218789:A436V	A	+	2	0	ARHGEF7	110733539	0.959000	0.32827	0.002000	0.10522	0.929000	0.56500	1.192000	0.32150	-0.064000	0.13043	0.561000	0.74099	GCG	ARHGEF7	-	NULL	ENSG00000102606		0.687	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		-	0	79	0	C	NM_001113511		111935538	1	tier1	-	no_errors	ENST00000375741	ensembl	human	known	74_37	missense	36.59	26	15	SNP	0.871	T	T	111935538	C	T	111935538	3	4	183	1	0	0	0	0	1	0	0	0	911	768	27	1	1907	1	ARHGEF7	13	111935538	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	8597050	111935538	3234340	160	45622											
SPTLC2	9517	genome.wustl.edu	37	chr14	77987910	77987910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttttcagctaactgttGtacacactctttacctggaa	9	15	8	9	0	2	0	1	0	1	0	2	1	2	1	1	2	4	4	1	2	4	7			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr14:77987910G>T	ENST00000216484.2	-	10	1511	c.1318C>A	c.(1318-1320)Caa>Aaa	p.Q440K		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	440				KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5). {ECO:0000305}.	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)	GCTAACTGTTGTACACACTCT	0.398																																																	0													106	92	97					14																	77987910		2203	4300	6503	SO:0001583	missense	0			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.1318C>A	14.37:g.77987910G>T	ENSP00000216484:p.Gln440Lys		Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.Q440K	ENST00000216484.2	37	c.1318	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	G	9.243	1.038840	0.19669	.	.	ENSG00000100596	ENST00000216484	D	0.94793	-3.52	5.73	5.73	0.89815	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.162812	0.56097	D	0.000039	D	0.88887	0.6559	N	0.16307	0.4	0.48341	D	0.999634	B	0.10296	0.003	B	0.11329	0.006	D	0.83912	0.0296	10	0.24483	T	0.36	-16.9975	15.3913	0.74747	0.0:0.1387:0.8613:0.0	.	440	O15270	SPTC2_HUMAN	K	440	ENSP00000216484:Q440K	ENSP00000216484:Q440K	Q	-	1	0	SPTLC2	77057663	1.000000	0.71417	0.996000	0.52242	0.050000	0.14768	5.231000	0.65327	2.712000	0.92718	0.557000	0.71058	CAA	SPTLC2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000100596		0.398	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1		0	43	0	G	NM_004863		77987910	-1			no_errors	ENST00000216484	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	77987910	G	T	77987910	3	4	183	1	0	0	0	0	1	0	0	0	15171	1386	48	3	382	3	SPTLC2	14	77987910	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		77987910	29361630	161	45623											
NRXN3	9369	genome.wustl.edu	37	chr14	79175585	79175585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataagaataatgacatccGtctggagctgtctcgcctgg	10	12	10	9	2	2	2	0	1	2	1	4	3	3	3	2	2	1	1	2	2	4	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr14:79175585G>A	ENST00000554719.1	+	4	619	c.128G>A	c.(127-129)cGt>cAt	p.R43H	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.R43H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					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.R43L(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)		AATGACATCCGTCTGGAGCTG	0.468																																																	1	Substitution - Missense(1)	endometrium(1)											79	80	80					14																	79175585		2203	4300	6503	SO:0001583	missense	0			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.128G>A	14.37:g.79175585G>A	ENSP00000451648:p.Arg43His		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.R414H	ENST00000554719.1	37	c.1241	CCDS9870.1	14	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403088	0.83230	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79247	-1.25;-1.25	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.059807	0.64402	D	0.000003	D	0.88314	0.6403	.	.	.	0.52099	D	0.999946	D;D	0.76494	0.999;0.994	D;P	0.71184	0.972;0.686	D	0.87919	0.2702	8	.	.	.	.	19.4379	0.94804	0.0:0.0:1.0:0.0	.	416;43	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	416;414;43;43	ENSP00000451648:R43H;ENSP00000338349:R43H	.	R	+	2	0	NRXN3	78245338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.606000	0.88127	0.563000	0.77884	CGT	NRXN3	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000021645		0.468	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1		0	42	0	G	NM_001105250		79175585	1			no_errors	ENST00000554738	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	A	A	79175585	G	A	79175585	3	1	183	1	0	0	0	0	1	0	0	0	10706	1145	40	1	134	1	NRXN3	14	79175585	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	1187675	79175585	28173955	162	45624											
TRIP11	9321	genome.wustl.edu	37	chr14	92470599	92470599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagctcttcctgaagctGggctgactcgtgttgcatat	7	13	12	9	1	1	3	0	3	1	0	3	3	2	3	1	1	3	5	1	1	3	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr14:92470599G>T	ENST00000267622.4	-	11	4094	c.3721C>A	c.(3721-3723)Cag>Aag	p.Q1241K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1241					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)		TCCTGAAGCTGGGCTGACTCG	0.413			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													77	63	68					14																	92470599		2203	4300	6503	SO:0001583	missense	0			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.3721C>A	14.37:g.92470599G>T	ENSP00000267622:p.Gln1241Lys		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.Q1241K	ENST00000267622.4	37	c.3721	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.63|12.63	1.994762|1.994762	0.35226|0.35226	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.04502	.|3.61	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.180578	.|0.49916	.|D	.|0.000131	T|T	0.05823|0.05823	0.0152|0.0152	L|L	0.27053|0.27053	0.805|0.805	0.48830|0.48830	D|D	0.999718|0.999718	.|P;P	.|0.48089	.|0.873;0.905	.|B;B	.|0.42361	.|0.385;0.384	T|T	0.53989|0.53989	-0.8360|-0.8360	5|10	.|0.24483	.|T	.|0.36	.|.	19.3015|19.3015	0.94145|0.94145	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|977;1241	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	Q|K	956|1241;977	.|ENSP00000267622:Q1241K	.|ENSP00000267622:Q1241K	P|Q	-|-	2|1	0|0	TRIP11|TRIP11	91540352|91540352	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.182000|0.182000	0.23217|0.23217	9.810000|9.810000	0.99221|0.99221	2.550000|2.550000	0.86006|0.86006	0.455000|0.455000	0.32223|0.32223	CCA|CAG	TRIP11	-	NULL	ENSG00000100815		0.413	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	-	0	38	0	G			92470599	-1	tier1	-	no_errors	ENST00000267622	ensembl	human	known	74_37	missense	25.00	30	10	SNP	1.000	T	T	92470599	G	T	92470599	3	4	183	1	0	0	0	0	1	0	0	0	16603	1357	47	3	2262	3	TRIP11	14	92470599	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	13295014	92470599	14878941	163	45625											
TJP1	7082	genome.wustl.edu	37	chr15	30053420	30053420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	ggtcaggagatcgtgaccggCtgcggcggggaggcctatcg	6	6	19	10	5	1	2	1	1	0	1	3	4	1	3	2	7	1	1	2	7	1	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr15:30053420C>T	ENST00000346128.6	-	8	1406	c.932G>A	c.(931-933)aGc>aAc	p.S311N	TJP1_ENST00000495972.2_Missense_Mutation_p.S311N|TJP1_ENST00000545208.2_Missense_Mutation_p.S311N|TJP1_ENST00000356107.6_Missense_Mutation_p.S311N|TJP1_ENST00000400011.2_Missense_Mutation_p.S315N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	311					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)		TCGTGACCGGCTGCGGCGGGG	0.502																																					Melanoma(77;681 1843 6309 6570)												0													41	48	46					15																	30053420		1907	4121	6028	SO:0001583	missense	0				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.932G>A	15.37:g.30053420C>T	ENSP00000281537:p.Ser311Asn		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.S311N	ENST00000346128.6	37	c.932	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901865	0.72754	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.07327	3.21;3.37;3.29;3.2	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	M	0.68317	2.08	0.80722	D	1	P;B;B;D	0.71674	0.584;0.281;0.232;0.998	B;B;B;D	0.80764	0.177;0.263;0.077;0.994	T	0.00752	-1.1581	9	.	.	.	.	18.5207	0.90951	0.0:1.0:0.0:0.0	.	304;311;311;315	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	N	311;315;311;311;311	ENSP00000281537:S311N;ENSP00000382890:S315N;ENSP00000441202:S311N;ENSP00000348416:S311N	.	S	-	2	0	TJP1	27840712	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.640000	0.83355	2.463000	0.83235	0.585000	0.79938	AGC	TJP1	-	NULL	ENSG00000104067		0.502	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	-	0	53	0	C	NM_003257		30053420	-1	tier1	-	no_errors	ENST00000346128	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	30053420	C	T	30053420	3	4	183	1	0	0	0	0	1	0	0	0	15976	797	28	3	4398	3	TJP1	15	30053420	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09		30053420	72477972	164	45626											
USP8	9101	genome.wustl.edu	37	chr15	50774176	50774176	+	Frame_Shift_Del	DEL	A	A	-																															aatctgtagaagatagggggAaaaggtgtccaaccccagaa																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr15:50774176delA	ENST00000396444.3	+	11	2055	c.1717delA	c.(1717-1719)aaafs	p.K573fs	USP8_ENST00000307179.4_Frame_Shift_Del_p.K573fs|USP8_ENST00000425032.3_Frame_Shift_Del_p.K496fs|USP8_ENST00000433963.1_Frame_Shift_Del_p.K573fs	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	573					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGATAGGGGGAAAAGGTGTCC	0.428																																																	0													56	54	55					15																	50774176		2196	4294	6490	SO:0001589	frameshift_variant	0			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.1717delA	15.37:g.50774176delA	ENSP00000379721:p.Lys573fs		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.R574fs	ENST00000396444.3	37	c.1717	CCDS10137.1	15																																																																																			USP8	-	NULL	ENSG00000138592		0.428	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1		0	35	0	A	NM_005154		50774176	1	tier1		no_errors	ENST00000307179	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-	-	50774176	A	-	50774176	7	5	183	1	0	1	0	1	0	0	0	0	17138	247	9	0	1755	0	USP8	15	50774176	Frame_Shift_Del	DEL	A	TCGA-Z6-A9VB-01A-21D-A37C-09	20720756	50774176	51757216	165	45627											
VPS13C	54832	genome.wustl.edu	37	chr15	62169209	62169209	+	Missense_Mutation	SNP	T	T	C	0	1	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	taacaacactccatataagcTgatctctcttgtagaactga	14	12	5	10	0	2	3	0	2	2	1	4	3	3	3	1	0	4	2	1	0	6	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr15:62169209T>C	ENST00000261517.5	-	75	10260	c.10187A>G	c.(10186-10188)cAg>cGg	p.Q3396R	VPS13C_ENST00000395898.3_Missense_Mutation_p.Q3353R|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q3396R|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q3353R	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						CCATATAAGCTGATCTCTCTT	0.294																																																	0													107	116	113					15																	62169209		2203	4294	6497	SO:0001583	missense	0			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.10187A>G	15.37:g.62169209T>C	ENSP00000261517:p.Gln3396Arg			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.Q3396R	ENST00000261517.5	37	c.10187	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282356	0.59867	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.77877	-1.13;-1.13;-1.13	5.06	5.06	0.68205	.	0.112630	0.64402	D	0.000009	D	0.85856	0.5794	M	0.80982	2.52	0.53688	D	0.999975	D;P;D;P	0.57257	0.963;0.951;0.979;0.84	P;P;P;P	0.58721	0.784;0.743;0.844;0.477	D	0.87570	0.2477	10	0.59425	D	0.04	.	13.6621	0.62374	0.0:0.0:0.0:1.0	.	3353;3396;3353;3396	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	R	3353;3396;3396;3396	ENSP00000249837:Q3353R;ENSP00000261517:Q3396R;ENSP00000379233:Q3396R	ENSP00000249837:Q3353R	Q	-	2	0	VPS13C	59956501	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.901000	0.75693	2.031000	0.59945	0.477000	0.44152	CAG	VPS13C	-	NULL	ENSG00000129003		0.294	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1		0	35	0	T	NM_017684		62169209	-1			no_errors	ENST00000261517	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	C	C	62169209	T	C	62169209	3	2	183	1	0	0	0	0	1	0	0	0	17240	1580	55	4	1146	4	VPS13C	15	62169209	Missense_Mutation	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	11395033	62169209	40362183	166	45628											
MEGF11	84465	genome.wustl.edu	37	chr15	66274746	66274746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcgcacacgcaggcgcCtgtgatggggttacacaggg	7	5	18	11	4	0	1	0	1	0	0	0	1	0	1	1	6	1	3	1	6	1	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr15:66274746C>T	ENST00000409699.2	-	6	647	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	MEGF11_ENST00000422354.1_Missense_Mutation_p.G159S|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.G84S|MEGF11_ENST00000395625.2_Missense_Mutation_p.G84S|MEGF11_ENST00000360698.4_Missense_Mutation_p.G159S			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	159	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						ACGCAGGCGCCTGTGATGGGG	0.701																																																	0													3	4	4					15																	66274746		1927	3989	5916	SO:0001583	missense	0			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.475G>A	15.37:g.66274746C>T	ENSP00000386908:p.Gly159Ser		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain	p.G159S	ENST00000409699.2	37	c.475	CCDS10213.2	15	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864119	0.71949	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698	T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49	3.73	2.79	0.32731	EGF-like, laminin (3);Epidermal growth factor-like, type 3 (1);	0.163445	0.28382	U	0.015559	D	0.88998	0.6590	M	0.82323	2.585	0.54753	D	0.999985	D;D	0.89917	1.0;0.993	D;D	0.97110	1.0;0.946	D	0.89411	0.3703	10	0.87932	D	0	.	11.8907	0.52628	0.0:0.8222:0.1778:0.0	.	159;84	A6BM72;A6BM72-2	MEG11_HUMAN;.	S	159;84;159;84;159	ENSP00000386908:G159S;ENSP00000288745:G84S;ENSP00000414475:G159S;ENSP00000378987:G84S;ENSP00000353919:G159S	ENSP00000288745:G84S	G	-	1	0	MEGF11	64061800	1.000000	0.71417	0.938000	0.37757	0.242000	0.25591	7.509000	0.81698	0.763000	0.33175	-0.304000	0.09214	GGC	MEGF11	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000157890		0.701	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	HGNC	protein_coding	OTTHUMT00000329307.2	-	0	27	0	C	NM_032445		66274746	-1	tier1	-	no_errors	ENST00000409699	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.996	T	T	66274746	C	T	66274746	3	4	183	1	0	0	0	0	1	0	0	0	9499	681	24	3	2731	3	MEGF11	15	66274746	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	4105537	66274746	36256646	167	45629											
KIAA1024	23251	genome.wustl.edu	37	chr15	79749998	79749998	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtacagtgacaggcacacCatgaagcactcagacgatga	16	5	10	10	1	1	4	1	3	0	1	1	5	1	4	1	1	2	3	1	1	3	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr15:79749998C>T	ENST00000305428.3	+	2	1584	c.1509C>T	c.(1507-1509)acC>acT	p.T503T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	503						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACAGGCACACCATGAAGCACT	0.532																																																	0													110	88	96					15																	79749998		2196	4293	6489	SO:0001819	synonymous_variant	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1509C>T	15.37:g.79749998C>T			A7MD43	Silent	SNP	pfam_UPF0258	p.T503	ENST00000305428.3	37	c.1509	CCDS32306.1	15																																																																																			KIAA1024	-	NULL	ENSG00000169330		0.532	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	-	0	24	0	C	NM_015206		79749998	1	tier1	-	no_errors	ENST00000305428	ensembl	human	known	74_37	silent	30.00	14	6	SNP	0.103	T	T	79749998	C	T	79749998	2	4	183	1	0	0	0	0	0	0	0	1	8232	581	21	3		3	KIAA1024	15	79749998	Silent	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	13475252	79749998	22781394	168	45630											
IFT140	9742	genome.wustl.edu	37	chr16	1576045	1576045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgttcaggaggtcgtggcGcttgcacttcctgtacagct	5	13	12	11	2	1	0	1	0	0	0	3	1	2	1	1	3	3	5	1	3	1	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:1576045G>T	ENST00000426508.2	-	21	2974	c.2611C>A	c.(2611-2613)Cgc>Agc	p.R871S	TMEM204_ENST00000253934.5_5'Flank|IFT140_ENST00000361339.5_Missense_Mutation_p.R65S	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	871					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)				AGGTCGTGGCGCTTGCACTTC	0.627																																																	0													47	43	45					16																	1576045		2195	4299	6494	SO:0001583	missense	0			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.2611C>A	16.37:g.1576045G>T	ENSP00000406012:p.Arg871Ser		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R871S	ENST00000426508.2	37	c.2611	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802998	0.50315	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.62364	0.03;0.03	5.03	4.06	0.47325	.	0.126400	0.52532	D	0.000075	D	0.82458	0.5041	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85397	0.1129	10	0.48119	T	0.1	.	13.4355	0.61082	0.0:0.0:0.8428:0.1572	.	871;558	Q96RY7;B4DR58	IF140_HUMAN;.	S	871;65;871	ENSP00000354895:R65S;ENSP00000406012:R871S	ENSP00000354895:R65S	R	-	1	0	IFT140	1516046	1.000000	0.71417	0.923000	0.36655	0.001000	0.01503	7.557000	0.82243	1.242000	0.43836	-0.314000	0.08810	CGC	IFT140	-	NULL	ENSG00000187535		0.627	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	-	0	63	0	G	NM_014714		1576045	-1	tier1	-	no_errors	ENST00000426508	ensembl	human	known	74_37	missense	38.64	27	17	SNP	0.994	T	T	1576045	G	T	1576045	3	4	183	1	0	0	0	0	1	0	0	0	7583	1087	38	2	1821	2	IFT140	16	1576045	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		1576045	88778708	169	45631											
DNAH3	55567	genome.wustl.edu	37	chr16	21045322	21045322	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gtaaatcgccgagagctgcaGccaacactttataagcagag	14	7	10	10	2	0	2	0	0	0	2	1	3	0	2	2	0	5	4	2	0	5	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:21045322G>A	ENST00000261383.3	-	36	5170	c.5171C>T	c.(5170-5172)gCt>gTt	p.A1724V	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1724V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1724	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|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)		GAGAGCTGCAGCCAACACTTT	0.527																																																	0													96	82	87					16																	21045322		2201	4300	6501	SO:0001583	missense	0			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.5171C>T	16.37:g.21045322G>A	ENSP00000261383:p.Ala1724Val		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.A1724V	ENST00000261383.3	37	c.5171	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544801	0.86022	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.60548	0.18;0.18	4.88	4.88	0.63580	.	0.076356	0.53938	D	0.000054	T	0.69735	0.3144	M	0.92784	3.345	0.80722	D	1	P	0.44281	0.831	B	0.40636	0.335	T	0.79945	-0.1589	10	0.59425	D	0.04	.	18.4006	0.90515	0.0:0.0:1.0:0.0	.	1724	Q8TD57	DYH3_HUMAN	V	1724	ENSP00000261383:A1724V;ENSP00000394245:A1724V	ENSP00000261383:A1724V	A	-	2	0	DNAH3	20952823	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.426000	0.97469	2.413000	0.81919	0.655000	0.94253	GCT	DNAH3	-	superfamily_P-loop_NTPase	ENSG00000158486		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1		0	27	0	G	NM_017539		21045322	-1			no_errors	ENST00000261383	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	A	A	21045322	G	A	21045322	3	1	183	1	0	0	0	0	1	0	0	0	4617	971	34	3	7286	3	DNAH3	16	21045322	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	19469277	21045322	69309431	170	45632											
TNRC6A	27327	genome.wustl.edu	37	chr16	24788375	24788375	+	Silent	SNP	A	A	G	1	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	acagccaacaatcagcagccAcagcagcagcagcaacagca	17	1	8	15	0	1	0	1	0	0	0	1	0	1	0	2	0	10	6	2	0	3	0	rs573912317	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:24788375A>G	ENST00000395799.3	+	5	414	c.285A>G	c.(283-285)ccA>ccG	p.P95P	TNRC6A_ENST00000315183.7_Silent_p.P95P	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	95	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)		ATcagcagccacagcagcagc	0.597													A|||	2	0.000399361	0	0	5008	,	,		12064	0.001		0	False		,,,				2504	0.001																0													27	36	33					16																	24788375		2161	4261	6422	SO:0001819	synonymous_variant	0			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.285A>G	16.37:g.24788375A>G			C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.P95	ENST00000395799.3	37	c.285	CCDS10624.2	16																																																																																			TNRC6A	-	NULL	ENSG00000090905		0.597	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	-	0	61	0	A	NM_020847		24788375	1	tier1	-	no_errors	ENST00000395799	ensembl	human	known	74_37	silent	16.39	50	10	SNP	0.750	G	G	24788375	A	G	24788375	2	3	183	1	0	0	0	0	0	0	0	1	16387	146	6	4		4	TNRC6A	16	24788375	Silent	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	3743053	24788375	65566378	171	45633											
PHKB	5257	genome.wustl.edu	37	chr16	47733186	47733186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcccctgggaaaaagagGaacatgcagctatttgacaa	14	8	9	10	0	0	2	0	1	0	1	2	4	2	4	3	2	3	2	3	2	5	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:47733186G>T	ENST00000323584.5	+	31	3215	c.3191G>T	c.(3190-3192)gGa>gTa	p.G1064V	PHKB_ENST00000566044.1_Missense_Mutation_p.G1057V|PHKB_ENST00000455779.1_Missense_Mutation_p.G1057V|PHKB_ENST00000299167.8_Missense_Mutation_p.G1064V	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	1064					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)				GGAAAAAGAGGAACATGCAGC	0.453																																																	0													172	156	161					16																	47733186		2201	4300	6501	SO:0001583	missense	0				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.3191G>T	16.37:g.47733186G>T	ENSP00000313504:p.Gly1064Val		Q8N4T5	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.G1064V	ENST00000323584.5	37	c.3191	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345345	0.61073	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91686	-2.89;-2.89	5.64	5.64	0.86602	.	0.116646	0.64402	D	0.000014	D	0.95252	0.8460	M	0.69248	2.105	0.80722	D	1	D;B;D	0.76494	0.989;0.059;0.999	P;B;D	0.65443	0.881;0.024;0.935	D	0.93703	0.7017	10	0.33141	T	0.24	-5.9223	19.7002	0.96049	0.0:0.0:1.0:0.0	.	305;1064;1057	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	V	1057;1057;1064	ENSP00000414345:G1057V;ENSP00000313504:G1064V	ENSP00000299167:G1057V	G	+	2	0	PHKB	46290687	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	9.295000	0.96095	2.663000	0.90544	0.650000	0.86243	GGA	PHKB	-	NULL	ENSG00000102893		0.453	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	-	0	59	0	G			47733186	1	tier1	-	no_errors	ENST00000299167	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	47733186	G	T	47733186	3	4	183	1	0	0	0	0	1	0	0	0	11884	1174	41	3	3467	3	PHKB	16	47733186	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	22944811	47733186	42621567	172	45634											
SALL1	6299	genome.wustl.edu	37	chr16	51174226	51174226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggacgctactgctcgccGtcgggactgagttggtgacc	6	9	14	12	4	1	2	1	2	0	0	3	4	1	4	2	3	2	3	2	3	1	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:51174226G>A	ENST00000251020.4	-	2	1940	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.T539M|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	636					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)			ACTGCTCGCCGTCGGGACTGA	0.637																																					GBM(103;1352 1446 1855 4775 8890)												0													37	37	37					16																	51174226		2198	4300	6498	SO:0001583	missense	0			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.1907C>T	16.37:g.51174226G>A	ENSP00000251020:p.Thr636Met		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T636M	ENST00000251020.4	37	c.1907	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	0.623	-0.820325	0.02755	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07908	3.15;3.17	4.89	1.52	0.23074	.	0.707310	0.15004	N	0.285972	T	0.04815	0.0130	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.35599	-0.9782	10	0.44086	T	0.13	.	2.7749	0.05345	0.0931:0.2582:0.4246:0.2241	.	636	Q9NSC2	SALL1_HUMAN	M	636;539;600	ENSP00000251020:T636M;ENSP00000407914:T539M	ENSP00000251020:T636M	T	-	2	0	SALL1	49731727	0.017000	0.18338	0.000000	0.03702	0.095000	0.18619	0.925000	0.28791	0.626000	0.30322	0.557000	0.71058	ACG	SALL1	-	NULL	ENSG00000103449		0.637	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	20	0	G	NM_002968		51174226	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	18.52	22	5	SNP	0.001	A	A	51174226	G	A	51174226	3	1	183	1	0	0	0	0	1	0	0	0	13855	1145	40	1	2075	1	SALL1	16	51174226	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	3441040	51174226	39180527	173	45635											
DPEP3	64180	genome.wustl.edu	37	chr16	68010044	68010044	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtttccacgaaggacaccTtgaagctcttcctcgctcca	9	10	8	14	2	1	1	0	1	1	0	5	3	4	2	4	2	1	3	4	2	2	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr16:68010044T>A	ENST00000268793.4	-	9	1630	c.1257A>T	c.(1255-1257)caA>caT	p.Q419H	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	394					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)		GAAGGACACCTTGAAGCTCTT	0.567																																																	0													171	166	167					16																	68010044		2198	4300	6498	SO:0001583	missense	0			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.1257A>T	16.37:g.68010044T>A	ENSP00000268793:p.Gln419His		B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	pfam_Peptidase_M19	p.Q419H	ENST00000268793.4	37	c.1257	CCDS10856.1	16	.	.	.	.	.	.	.	.	.	.	T	13.86	2.361874	0.41801	.	.	ENSG00000141096	ENST00000268793	T	0.22743	1.94	4.76	-1.01	0.10169	.	0.342907	0.31113	N	0.008233	T	0.20129	0.0484	L	0.57536	1.79	0.32862	D	0.508138	B	0.22146	0.065	B	0.28553	0.091	T	0.14896	-1.0456	10	0.51188	T	0.08	-2.6918	9.9346	0.41543	0.0:0.476:0.0:0.524	.	394	Q9H4B8	DPEP3_HUMAN	H	419	ENSP00000268793:Q419H	ENSP00000268793:Q419H	Q	-	3	2	DPEP3	66567545	0.002000	0.14202	0.971000	0.41717	0.980000	0.70556	-0.400000	0.07241	-0.276000	0.09206	-0.256000	0.11100	CAA	DPEP3	-	pfam_Peptidase_M19	ENSG00000141096		0.567	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	-	0	43	0	T	NM_022357		68010044	-1	tier1	-	no_errors	ENST00000268793	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.895	A	A	68010044	T	A	68010044	3	1	183	1	0	0	0	0	1	0	0	0	4729	1606	56	5	292	5	DPEP3	16	68010044	Missense_Mutation	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09	16835818	68010044	22344709	174	45636											
SCARF1	8578	genome.wustl.edu	37	chr17	1548525	1548525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcagcactgcagctcaGcagaggggctgtggggcaaa	9	5	16	11	1	1	1	1	0	0	1	1	1	1	1	0	4	5	7	0	4	1	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:1548525G>T	ENST00000263071.4	-	2	159	c.110C>A	c.(109-111)gCt>gAt	p.A37D	SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000348987.3_Missense_Mutation_p.A37D|SCARF1_ENST00000571272.1_Missense_Mutation_p.A37D	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	37					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)		CTGCAGCTCAGCAGAGGGGCT	0.632																																																	0													42	36	38					17																	1548525		2202	4300	6502	SO:0001583	missense	0			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.110C>A	17.37:g.1548525G>T	ENSP00000263071:p.Ala37Asp		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Nonsense_Mutation	SNP	NULL	p.C49*	ENST00000263071.4	37	c.147	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756021	0.69648	.	.	ENSG00000074660	ENST00000263071;ENST00000348987;ENST00000434376	T;T;T	0.21031	2.03;2.74;2.68	4.36	3.12	0.35913	.	0.611501	0.12518	U	0.461930	T	0.24509	0.0594	N	0.22421	0.69	0.09310	N	1	D;D;B	0.67145	0.996;0.987;0.175	P;P;B	0.62184	0.899;0.795;0.084	T	0.07986	-1.0744	10	0.32370	T	0.25	-6.1734	7.12	0.25440	0.1097:0.0:0.7165:0.1738	.	37;37;37	Q14162-2;Q14162;Q14162-3	.;SREC_HUMAN;.	D	37	ENSP00000263071:A37D;ENSP00000323964:A37D;ENSP00000411167:A37D	ENSP00000263071:A37D	A	-	2	0	SCARF1	1495275	0.013000	0.17824	0.998000	0.56505	0.971000	0.66376	1.454000	0.35178	1.987000	0.57996	0.555000	0.69702	GCT	SCARF1	-	NULL	ENSG00000074660		0.632	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	-	0	96	0	G	NM_003693		1548525	-1	tier1	-	no_errors	ENST00000573852	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	0.107	T	T	1548525	G	T	1548525	3	4	183	1	0	0	0	0	1	0	0	0	13928	971	34	3	2422	3	SCARF1	17	1548525	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		1548525	79646685	175	45637											
TP53	7157	genome.wustl.edu	37	chr17	7579361	7579361	+	Missense_Mutation	SNP	A	A	G	1	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	aatgcaagaagcccagacggAaaccgtagctgccctggtag	13	5	12	11	2	0	2	0	0	0	2	0	3	0	3	3	2	5	4	3	2	6	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:7579361A>G	ENST00000269305.4	-	4	515	c.326T>C	c.(325-327)tTc>tCc	p.F109S	TP53_ENST00000455263.2_Missense_Mutation_p.F109S|TP53_ENST00000413465.2_Missense_Mutation_p.F109S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.F109S|TP53_ENST00000445888.2_Missense_Mutation_p.F109S|TP53_ENST00000420246.2_Missense_Mutation_p.F109S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCCAGACGGAAACCGTAGCT	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	31	Substitution - Missense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Complex - deletion inframe(2)	upper_aerodigestive_tract(5)|large_intestine(5)|stomach(4)|bone(4)|breast(4)|central_nervous_system(2)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|ovary(1)											62	59	60					17																	7579361		2203	4300	6503	SO:0001583	missense	0	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.326T>C	17.37:g.7579361A>G	ENSP00000269305:p.Phe109Ser		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.F109S	ENST00000269305.4	37	c.326	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433503	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.104685	0.64402	D	0.000004	D	0.99866	0.9937	M	0.90977	3.165	0.47009	D	0.999288	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.999;0.999;0.999;0.999;0.997	D	0.96432	0.9320	10	0.87932	D	0	-31.6488	12.5363	0.56144	1.0:0.0:0.0:0.0	.	70;109;109;109;109;109;109	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	109	ENSP00000410739:F109S;ENSP00000352610:F109S;ENSP00000269305:F109S;ENSP00000398846:F109S;ENSP00000391127:F109S;ENSP00000391478:F109S;ENSP00000424104:F109S;ENSP00000426252:F109S	ENSP00000269305:F109S	F	-	2	0	TP53	7520086	1.000000	0.71417	0.868000	0.34077	0.936000	0.57629	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	TTC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	91	0	A	NM_000546		7579361	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	65.67	23	44	SNP	0.980	G	G	7579361	A	G	7579361	3	3	183	1	0	0	0	0	1	0	0	0	16429	246	9	4	976	4	TP53	17	7579361	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	6030836	7579361	73615849	176	45638											
PFAS	5198	genome.wustl.edu	37	chr17	8158846	8158846	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccccccgtcagctgaggtGgaagccattgctctggctac	7	8	11	15	1	2	1	1	1	1	0	2	2	2	2	4	3	4	3	4	3	2	2	rs143291952		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:8158846G>T	ENST00000314666.6	+	5	544	c.411G>T	c.(409-411)gtG>gtT	p.V137V	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	137					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CAGCTGAGGTGGAAGCCATTG	0.582																																																	0													63	58	60					17																	8158846		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.411G>T	17.37:g.8158846G>T			A6H8V8	Silent	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	p.V137	ENST00000314666.6	37	c.411	CCDS11136.1	17																																																																																			PFAS	-	tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.582	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	-	0	60	0	G			8158846	1	tier1	-	no_errors	ENST00000314666	ensembl	human	known	74_37	silent	34.55	36	19	SNP	0.613	T	T	8158846	G	T	8158846	2	4	183	1	0	0	0	0	0	0	0	1	11793	1335	47	3		3	PFAS	17	8158846	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	579485	8158846	73036364	177	45639											
TMEM199	147007	genome.wustl.edu	37	chr17	26685980	26685980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctcctagaaggcagtgaaAtctatctcccagaggttgtg	11	10	11	9	0	2	3	0	1	2	2	4	3	3	3	2	2	1	3	2	2	4	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:26685980A>G	ENST00000292114.3	+	2	343	c.253A>G	c.(253-255)Atc>Gtc	p.I85V	POLDIP2_ENST00000003607.4_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000540200.1_5'Flank|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.I85V|TMEM199_ENST00000395404.3_Intron|TMEM199_ENST00000581386.1_3'UTR|CTB-96E2.7_ENST00000577850.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	85						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGGCAGTGAAATCTATCTCCC	0.438																																																	0													136	129	131					17																	26685980		2203	4300	6503	SO:0001583	missense	0			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.253A>G	17.37:g.26685980A>G	ENSP00000292114:p.Ile85Val			Missense_Mutation	SNP	pfam_ATPase_Vma12	p.I85V	ENST00000292114.3	37	c.253	CCDS11228.1	17	.	.	.	.	.	.	.	.	.	.	A	17.82	3.483697	0.63962	.	.	ENSG00000244045	ENST00000292114;ENST00000509083	T;T	0.28454	1.61;1.61	5.63	4.52	0.55395	.	0.051459	0.85682	D	0.000000	T	0.31389	0.0795	L	0.43152	1.355	0.43522	D	0.995793	P;B	0.43788	0.817;0.084	P;B	0.45998	0.5;0.112	T	0.01925	-1.1246	10	0.25751	T	0.34	-11.8087	12.4077	0.55449	0.8592:0.1408:0.0:0.0	.	85;85	E9PBQ3;Q8N511	.;TM199_HUMAN	V	85	ENSP00000292114:I85V;ENSP00000427614:I85V	ENSP00000292114:I85V	I	+	1	0	TMEM199	23710107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.634000	0.37123	0.933000	0.37291	0.533000	0.62120	ATC	TMEM199	-	pfam_ATPase_Vma12	ENSG00000244045		0.438	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM199	HGNC	protein_coding	OTTHUMT00000255676.2	-	0	64	0	A	NM_152464		26685980	1	tier1	-	no_errors	ENST00000509083	ensembl	human	known	74_37	missense	50.00	13	13	SNP	0.998	G	G	26685980	A	G	26685980	3	3	183	1	0	0	0	0	1	0	0	0	16167	101	4	4	259	4	TMEM199	17	26685980	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	18527134	26685980	54509230	178	45640											
KRT24	192666	genome.wustl.edu	37	chr17	38856630	38856630	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttccttgcatattcttCatttcctagcatgaaggaaa	11	14	7	9	0	2	1	1	1	1	0	4	3	4	2	2	1	3	3	2	1	4	7			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:38856630C>A	ENST00000264651.2	-	4	917	c.861G>T	c.(859-861)atG>atT	p.M287I		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	287	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)				GCATATTCTTCATTTCCTAGC	0.448																																					GBM(61;380 1051 14702 23642 31441)												0													168	181	177					17																	38856630		2203	4300	6503	SO:0001583	missense	0				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.861G>T	17.37:g.38856630C>A	ENSP00000264651:p.Met287Ile		Q9NXG7	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.M287I	ENST00000264651.2	37	c.861	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507678	0.27036	.	.	ENSG00000167916	ENST00000264651	D	0.86694	-2.16	5.86	4.89	0.63831	Prefoldin (1);Filament (1);	.	.	.	.	T	0.81912	0.4923	L	0.41236	1.265	0.35159	D	0.770487	B	0.11235	0.004	B	0.12156	0.007	T	0.82057	-0.0646	9	0.54805	T	0.06	.	11.0251	0.47741	0.3195:0.567:0.1135:0.0	.	287	Q2M2I5	K1C24_HUMAN	I	287	ENSP00000264651:M287I	ENSP00000264651:M287I	M	-	3	0	KRT24	36110156	0.267000	0.24122	0.998000	0.56505	0.256000	0.26092	0.243000	0.18106	1.456000	0.47831	0.563000	0.77884	ATG	KRT24	-	pfam_IF,superfamily_Prefoldin	ENSG00000167916		0.448	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	-	0	17	0	C	NM_019016		38856630	-1	tier1	-	no_errors	ENST00000264651	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	A	A	38856630	C	A	38856630	3	1	183	1	0	0	0	0	1	0	0	0	8488	826	29	3	736	3	KRT24	17	38856630	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	12170650	38856630	42338580	179	45641											
EZH1	2145	genome.wustl.edu	37	chr17	40870596	40870596	+	Silent	SNP	A	A	T	1	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	ttgggtgtgcactgagggggAagtgcattggggtctgacat	7	11	18	5	0	1	2	0	2	1	0	1	3	1	3	0	5	2	2	0	5	1	2	rs192650282		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:40870596A>T	ENST00000428826.2	-	9	928	c.807T>A	c.(805-807)ctT>ctA	p.L269L	EZH1_ENST00000435174.1_Silent_p.L130L|EZH1_ENST00000585893.1_Silent_p.L229L|EZH1_ENST00000592743.1_Silent_p.L269L|EZH1_ENST00000415827.2_Silent_p.L260L|EZH1_ENST00000590078.1_Silent_p.L199L			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	269					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)	p.L269L(1)		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)		ACTGAGGGGGAAGTGCATTGG	0.512																																																	1	Substitution - coding silent(1)	large_intestine(1)											127	124	126					17																	40870596		2203	4300	6503	SO:0001819	synonymous_variant	0				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.807T>A	17.37:g.40870596A>T			A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Silent	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.L269	ENST00000428826.2	37	c.807	CCDS32659.1	17																																																																																			EZH1	-	NULL	ENSG00000108799		0.512	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1		0	28	0	A	NM_001991		40870596	-1			no_errors	ENST00000428826	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.999	T	T	40870596	A	T	40870596	2	4	183	1	0	0	0	0	0	0	0	1	5349	233	9	5		5	EZH1	17	40870596	Silent	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	2013966	40870596	40324614	180	45642											
MAPT	4137	genome.wustl.edu	37	chr17	44061259	44061259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcctgctgctgctccGcgggggaagcccgtcagccg	6	5	15	15	4	1	0	1	0	0	0	2	1	2	1	4	2	7	4	4	2	2	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:44061259G>A	ENST00000571987.1	+	5	1089	c.1089G>A	c.(1087-1089)ccG>ccA	p.P363P	MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000344290.5_Silent_p.P363P|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Silent_p.P363P|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Silent_p.P363P|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000574436.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	363					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)	CTGCTGCTCCGCGGGGGAAGC	0.662																																																	0													62	76	71					17																	44061259		2073	4070	6143	SO:0001819	synonymous_variant	0			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.1089G>A	17.37:g.44061259G>A			P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	pfam_MAP_tubulin-bd_rpt,prints_Tau	p.P363	ENST00000571987.1	37	c.1089	CCDS11501.1	17																																																																																			MAPT	-	NULL	ENSG00000186868		0.662	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1	-	0	70	0	G	NM_016835		44061259	1	tier1	-	no_errors	ENST00000344290	ensembl	human	known	74_37	silent	22.41	44	13	SNP	0.001	A	A	44061259	G	A	44061259	2	1	183	1	0	0	0	0	0	0	0	1	9335	1074	38	1		1	MAPT	17	44061259	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	3190663	44061259	37133951	181	45643											
FOXJ1	2302	genome.wustl.edu	37	chr17	74133965	74133965	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcagctgctgggcctcGgtattcaccgtcagcggccc	5	7	13	16	4	2	0	2	0	0	0	3	0	2	0	3	3	4	5	3	3	1	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:74133965G>A	ENST00000322957.6	-	3	1089	c.735C>T	c.(733-735)acC>acT	p.T245T	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	245					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)			GCTGGGCCTCGGTATTCACCG	0.736																																																	0													4	6	5					17																	74133965		2059	4049	6108	SO:0001819	synonymous_variant	0			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.735C>T	17.37:g.74133965G>A			O00630	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.T245	ENST00000322957.6	37	c.735	CCDS32739.1	17																																																																																			FOXJ1	-	NULL	ENSG00000129654		0.736	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ1	HGNC	protein_coding	OTTHUMT00000449856.1	-	0	34	0	G	NM_001454		74133965	-1	tier1	-	no_errors	ENST00000322957	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.064	A	A	74133965	G	A	74133965	2	1	183	1	0	0	0	0	0	0	0	1	6035	1103	39	1		1	FOXJ1	17	74133965	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	30072706	74133965	7061245	182	45644											
ST6GALNAC1	55808	genome.wustl.edu	37	chr17	74625793	74625793	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgttctctgtgcgttgatgCctagggacagagataacctt	9	13	11	8	1	1	2	0	1	1	1	2	4	1	3	2	1	3	2	2	1	2	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:74625793C>T	ENST00000156626.7	-	2	331	c.132G>A	c.(130-132)agG>agA	p.R44R	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	44					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGCGTTGATGCCTAGGGACAG	0.433																																																	0													89	85	86					17																	74625793		2203	4300	6503	SO:0001630	splice_region_variant	0			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.132-1G>A	17.37:g.74625793C>T			Q6UW90|Q9NSC6	Silent	SNP	pfam_Glyco_trans_29	p.R44	ENST00000156626.7	37	c.132	CCDS11748.1	17																																																																																			ST6GALNAC1	-	NULL	ENSG00000070526		0.433	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	-	0	25	0	C	NM_018414	Silent	74625793	-1	tier1	-	no_errors	ENST00000156626	ensembl	human	known	74_37	silent	40.00	9	6	SNP	0.530	T	T	74625793	C	T	74625793	5	4	183	1	0	0	0	0	0	0	1	0	15270	753	26	3	1702	3	ST6GALNAC1	17	74625793	Splice_Site	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	491828	74625793	6569417	183	45645											
P4HB	5034	genome.wustl.edu	37	chr17	79813462	79813462	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatcagcctctctgccaGctaaccccaaacaaatgtag	12	9	6	14	0	3	0	2	0	1	0	4	0	3	0	4	0	5	2	4	0	4	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:79813462G>C	ENST00000331483.4	-	3	575	c.353C>G	c.(352-354)gCt>gGt	p.A118G	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	118	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)			CTCTCTGCCAGCTAACCCCAA	0.632																																					Colon(49;444 983 1296 7887 42561)												0													47	46	46					17																	79813462		2203	4300	6503	SO:0001630	splice_region_variant	0			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.353-1C>G	17.37:g.79813462G>C			B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.A118G	ENST00000331483.4	37	c.353	CCDS11787.1	17	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444605	0.63178	.	.	ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463	T	0.01854	4.6	4.42	4.42	0.53409	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.128338	0.52532	N	0.000080	T	0.00468	0.0015	N	0.00005	-3.29	0.39754	D	0.971932	B	0.06786	0.001	B	0.06405	0.002	T	0.52975	-0.8503	10	0.02654	T	1	.	17.0452	0.86500	0.0:0.0:1.0:0.0	.	118	P07237	PDIA1_HUMAN	G	118;118;102	ENSP00000327801:A118G	ENSP00000327801:A118G	A	-	2	0	P4HB	77406751	1.000000	0.71417	0.996000	0.52242	0.868000	0.49771	9.747000	0.98863	2.004000	0.58718	0.462000	0.41574	GCT	P4HB	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	ENSG00000185624		0.632	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	HGNC	protein_coding	OTTHUMT00000317250.3	-	0	88	0	G	NM_000918	Missense_Mutation	79813462	-1	tier1	-	no_errors	ENST00000331483	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	C	C	79813462	G	C	79813462	5	2	183	1	0	0	0	0	0	0	1	0	11398	985	34	5	1209	5	P4HB	17	79813462	Splice_Site	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	5187669	79813462	1381748	184	45646											
FASN	2194	genome.wustl.edu	37	chr17	80038423	80038423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcacctgcctgatgcagtcGatgtagtaggcagccaggct	8	9	13	11	1	0	1	0	1	0	0	1	2	0	1	3	2	4	6	3	2	2	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:80038423G>A	ENST00000306749.2	-	40	7088	c.6870C>T	c.(6868-6870)atC>atT	p.I2290I	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2290	Thioesterase. {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)	TGATGCAGTCGATGTAGTAGG	0.677																																					Colon(59;314 1043 11189 28578 32273)												0													18	17	17					17																	80038423		2162	4258	6420	SO:0001819	synonymous_variant	0			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.6870C>T	17.37:g.80038423G>A			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.I2290	ENST00000306749.2	37	c.6870	CCDS11801.1	17																																																																																			FASN	-	pfam_Thioesterase	ENSG00000169710		0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0	37	0	G	NM_004104		80038423	-1	tier1	-	no_errors	ENST00000306749	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.027	A	A	80038423	G	A	80038423	2	1	183	1	0	0	0	0	0	0	0	1	5705	1048	37	1		1	FASN	17	80038423	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	224961	80038423	1156787	185	45647											
FOXK2	3607	genome.wustl.edu	37	chr17	80559253	80559253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacaaagcgccacaacGgtgaccagccggagcagccg	11	2	12	16	4	0	1	0	1	0	0	0	2	0	2	5	2	6	1	5	2	2	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr17:80559253G>A	ENST00000335255.5	+	9	2035	c.1861G>A	c.(1861-1863)Ggt>Agt	p.G621S	FOXK2_ENST00000529652.1_3'UTR|RP13-638C3.4_ENST00000576912.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	621					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)			GCGCCACAACGGTGACCAGCC	0.627																																																	0													71	63	66					17																	80559253		2203	4300	6503	SO:0001583	missense	0			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.1861G>A	17.37:g.80559253G>A	ENSP00000335677:p.Gly621Ser		A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.G621S	ENST00000335255.5	37	c.1861	CCDS11813.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.35|14.35	2.510371|2.510371	0.44660|0.44660	.|.	.|.	ENSG00000141568|ENSG00000141568	ENST00000335255|ENST00000335241	D|.	0.94687|.	-3.49|.	4.97|4.97	3.98|3.98	0.46160|0.46160	.|.	0.167273|.	0.52532|.	D|.	0.000078|.	T|T	0.69024|0.69024	0.3065|0.3065	L|L	0.50333|0.50333	1.59|1.59	0.49483|0.49483	D|D	0.999798|0.999798	D|.	0.58268|.	0.982|.	B|.	0.43916|.	0.436|.	T|T	0.73723|0.73723	-0.3893|-0.3893	10|6	0.37606|0.87932	T|D	0.19|0	.|.	15.6436|15.6436	0.77029|0.77029	0.0:0.1379:0.8621:0.0|0.0:0.1379:0.8621:0.0	.|.	621|.	Q01167|.	FOXK2_HUMAN|.	S|Q	621|328	ENSP00000335677:G621S|.	ENSP00000335677:G621S|ENSP00000334321:R328Q	G|R	+|+	1|2	0|0	FOXK2|FOXK2	78152542|78152542	1.000000|1.000000	0.71417|0.71417	0.007000|0.007000	0.13788|0.13788	0.006000|0.006000	0.05464|0.05464	8.646000|8.646000	0.91053|0.91053	1.422000|1.422000	0.47177|0.47177	0.655000|0.655000	0.94253|0.94253	GGT|CGG	FOXK2	-	NULL	ENSG00000141568		0.627	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK2	HGNC	protein_coding	OTTHUMT00000277099.2	-	0	43	0	G	NM_181430		80559253	1	tier1	-	no_errors	ENST00000335255	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.996	A	A	80559253	G	A	80559253	3	1	183	1	0	0	0	0	1	0	0	0	6039	1116	39	1	1895	1	FOXK2	17	80559253	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	520830	80559253	635957	186	45648											
ZNF519	162655	genome.wustl.edu	37	chr18	14105336	14105336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttacacttgaaaggtttCtctccagtatgcattctctg	8	16	6	11	0	2	1	0	1	2	0	6	1	4	1	2	1	2	3	2	1	3	5			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr18:14105336C>A	ENST00000590202.1	-	3	1355	c.1203G>T	c.(1201-1203)gaG>gaT	p.E401D	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	401					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TGAAAGGTTTCTCTCCAGTAT	0.403																																																	0													96	97	96					18																	14105336		2203	4300	6503	SO:0001583	missense	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1203G>T	18.37:g.14105336C>A	ENSP00000464872:p.Glu401Asp			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E401D	ENST00000590202.1	37	c.1203	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768403	0.49680	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22820	0.0551	N	0.21508	0.67	0.25065	N	0.991036	P	0.44044	0.825	B	0.39706	0.307	T	0.13602	-1.0503	8	0.87932	D	0	.	7.2226	0.25997	0.0:0.9999:0.0:1.0E-4	.	401	Q8TB69	ZN519_HUMAN	D	401	.	ENSP00000307908:E401D	E	-	3	2	ZNF519	14095336	0.916000	0.31088	0.688000	0.30117	0.520000	0.34377	0.415000	0.21181	0.661000	0.30985	0.089000	0.15464	GAG	ZNF519	-	pfscan_Znf_C2H2	ENSG00000175322		0.403	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1		0	45	0	C	NM_145287		14105336	-1			no_errors	ENST00000590202	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	A	A	14105336	C	A	14105336	3	1	183	1	0	0	0	0	1	0	0	0	18012	912	32	3	423	3	ZNF519	18	14105336	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09		14105336	63971912	187	45649											
WDR18	57418	genome.wustl.edu	37	chr19	994323	994323	+	Missense_Mutation	SNP	A	A	G	1	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	tcgacttctccacgcgcttcAtcacgcggccggccaagtga	7	8	10	16	6	3	1	2	1	1	0	5	2	3	1	3	2	0	1	3	2	1	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:994323A>G	ENST00000251289.5	+	10	1302	c.1279A>G	c.(1279-1281)Atc>Gtc	p.I427V	WDR18_ENST00000587001.2_Missense_Mutation_p.I404V	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	427					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)		CACGCGCTTCATCACGCGGCC	0.711																																																	0													57	43	48					19																	994323		2195	4297	6492	SO:0001583	missense	0				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.1279A>G	19.37:g.994323A>G	ENSP00000251289:p.Ile427Val		O60390|Q9BWR2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I427V	ENST00000251289.5	37	c.1279	CCDS12051.1	19	.	.	.	.	.	.	.	.	.	.	A	16.63	3.176924	0.57692	.	.	ENSG00000065268	ENST00000251289	T	0.70399	-0.48	3.66	1.43	0.22495	.	0.070359	0.56097	D	0.000028	T	0.65228	0.2671	L	0.60455	1.87	0.29206	N	0.874929	P	0.39809	0.689	B	0.42916	0.402	T	0.59773	-0.7391	10	0.40728	T	0.16	.	7.6129	0.28142	0.5751:0.4249:0.0:0.0	.	427	Q9BV38	WDR18_HUMAN	V	427	ENSP00000251289:I427V	ENSP00000251289:I427V	I	+	1	0	WDR18	945323	1.000000	0.71417	0.657000	0.29651	0.950000	0.60333	2.411000	0.44600	0.046000	0.15833	0.334000	0.21626	ATC	WDR18	-	NULL	ENSG00000065268		0.711	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR18	HGNC	protein_coding	OTTHUMT00000458225.2	-	0	37	0	A			994323	1	tier1	-	no_errors	ENST00000251289	ensembl	human	known	74_37	missense	32.00	17	8	SNP	0.995	G	G	994323	A	G	994323	3	3	183	1	0	0	0	0	1	0	0	0	17327	217	8	4	1317	4	WDR18	19	994323	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09		994323	58134660	188	45650											
PRKCSH	5589	genome.wustl.edu	37	chr19	11558389	11558391	+	In_Frame_Del	DEL	GAG	GAG	-																															aggaagaagaggctgaagaaGaggaggaggaggaggattcc																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:11558389_11558391delGAG	ENST00000589838.1	+	10	985_987	c.985_987delGAG	c.(985-987)gagdel	p.E333del	PRKCSH_ENST00000412601.1_In_Frame_Del_p.E333del|PRKCSH_ENST00000591462.1_In_Frame_Del_p.E333del|PRKCSH_ENST00000587327.1_In_Frame_Del_p.E333del|PRKCSH_ENST00000252455.2_In_Frame_Del_p.E333del|PRKCSH_ENST00000592741.1_In_Frame_Del_p.E333del			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	333	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.E329E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ggctgaagaagaggaggaggagg	0.631																																																	1	Substitution - coding silent(1)	prostate(1)																																								SO:0001651	inframe_deletion	0				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.985_987delGAG	19.37:g.11558398_11558400delGAG	ENSP00000465461:p.Glu333del		A8K318|Q96BU9|Q96D06|Q9P0W9	In_Frame_Del	DEL	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom	p.E332in_frame_del	ENST00000589838.1	37	c.985_987	CCDS32911.1	19																																																																																			PRKCSH	-	NULL	ENSG00000130175		0.631	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKCSH	HGNC	protein_coding	OTTHUMT00000458817.1		0	69	0	GAG			11558391	1	tier1		no_errors	ENST00000252455	ensembl	human	known	74_37	in_frame_del	8.70	21	2	DEL	0.991:0.981:0.490	-	-	11558391	GAG	-	11558389	7	5	183	1	0	1	0	1	0	0	0	0	12558	943	33	0	1023	0	PRKCSH	19	11558389	In_Frame_Del	DEL	GAG	TCGA-Z6-A9VB-01A-21D-A37C-09	10564066	11558389	47570594	189	45651											
MAST3	23031	genome.wustl.edu	37	chr19	18255876	18255876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctctgtcctcgaacccgtCgtcccgtgactcttcgccga	4	11	8	18	6	2	1	0	1	2	0	8	3	4	1	4	0	1	0	4	0	1	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:18255876C>T	ENST00000262811.6	+	23	2789	c.2789C>T	c.(2788-2790)tCg>tTg	p.S930L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	930	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S952L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCGAACCCGTCGTCCCGTGAC	0.667																																																	1	Substitution - Missense(1)	large_intestine(1)											47	53	51					19																	18255876		1969	4148	6117	SO:0001583	missense	0			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.2789C>T	19.37:g.18255876C>T	ENSP00000262811:p.Ser930Leu		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.S930L	ENST00000262811.6	37	c.2789	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874836	0.91664	.	.	ENSG00000099308	ENST00000262811	T	0.73681	-0.77	4.72	4.72	0.59763	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	D	0.87888	0.6291	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90412	0.4410	10	0.87932	D	0	-19.545	16.6471	0.85179	0.0:1.0:0.0:0.0	.	930	O60307	MAST3_HUMAN	L	930	ENSP00000262811:S930L	ENSP00000262811:S930L	S	+	2	0	MAST3	18116876	1.000000	0.71417	0.927000	0.36925	0.752000	0.42762	7.742000	0.85008	2.178000	0.69098	0.313000	0.20887	TCG	MAST3	-	superfamily_PDZ	ENSG00000099308		0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2		0	80	0	C	XM_038150		18255876	1			no_errors	ENST00000262811	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.998	T	T	18255876	C	T	18255876	3	4	183	1	0	0	0	0	1	0	0	0	9364	893	31	1	2879	1	MAST3	19	18255876	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	6697487	18255876	40873107	190	45652											
NCAN	1463	genome.wustl.edu	37	chr19	19338453	19338453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accctcccctgctgcagagaCcaaggtgtattccctgcctc	7	9	8	17	0	0	1	0	0	0	1	3	2	2	1	6	1	3	3	6	1	2	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:19338453C>T	ENST00000252575.6	+	8	2123	c.2024C>T	c.(2023-2025)aCc>aTc	p.T675I	NCAN_ENST00000538881.1_Missense_Mutation_p.T126I	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	675					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)	GCTGCAGAGACCAAGGTGTAT	0.607																																																	0													94	98	97					19																	19338453		2203	4300	6503	SO:0001583	missense	0			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.2024C>T	19.37:g.19338453C>T	ENSP00000252575:p.Thr675Ile		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII	p.T675I	ENST00000252575.6	37	c.2024	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	C	1.711	-0.499122	0.04291	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85702	-1.86;-2.02	3.15	-2.0	0.07433	.	0.929154	0.08850	N	0.884559	T	0.65196	0.2668	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.50021	-0.8876	10	0.33141	T	0.24	.	3.5027	0.07679	0.0:0.3932:0.2001:0.4067	.	689;675	Q4LE67;O14594	.;NCAN_HUMAN	I	689;675;126	ENSP00000252575:T675I;ENSP00000442202:T126I	ENSP00000252575:T675I	T	+	2	0	NCAN	19199453	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.420000	0.07062	-0.276000	0.09206	0.491000	0.48974	ACC	NCAN	-	NULL	ENSG00000130287		0.607	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	-	0	81	0	C	NM_004386		19338453	1	tier1	-	no_errors	ENST00000252575	ensembl	human	known	74_37	missense	36.00	32	18	SNP	0.000	T	T	19338453	C	T	19338453	3	4	183	1	0	0	0	0	1	0	0	0	10243	507	18	3	2050	3	NCAN	19	19338453	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	1082577	19338453	39790530	191	45653											
ZNF208	7757	genome.wustl.edu	37	chr19	22154522	22154522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttctctccagtatgaattCtcttatgttccataaggttt	8	19	6	8	0	2	1	0	1	2	0	6	1	4	1	2	1	0	4	2	1	4	7			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:22154522C>T	ENST00000397126.4	-	4	3462	c.3314G>A	c.(3313-3315)aGa>aAa	p.R1105K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R977I(2)|p.R1105I(1)		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)				AGTATGAATTCTCTTATGTTC	0.393																																																	3	Substitution - Missense(3)	large_intestine(3)											65	68	67					19																	22154522		2086	4239	6325	SO:0001583	missense	0			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.3314G>A	19.37:g.22154522C>T	ENSP00000380315:p.Arg1105Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R1105K	ENST00000397126.4	37	c.3314	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	7.902	0.734632	0.15574	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.02197	4.4	2.59	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	.	.	.	0.09310	N	1	B	0.29627	0.252	B	0.34590	0.186	T	0.45411	-0.9263	8	0.45353	T	0.12	.	9.2481	0.37539	0.0:0.8399:0.0:0.16	.	977	O43345	ZN208_HUMAN	K	1105;977	ENSP00000380315:R1105K	ENSP00000380315:R1105K	R	-	2	0	ZNF208	21946362	0.000000	0.05858	0.003000	0.11579	0.124000	0.20399	-0.834000	0.04391	1.029000	0.39812	0.297000	0.19635	AGA	ZNF208	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1		0	40	0	C	NM_007153		22154522	-1			no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	5.88	32	2	SNP	0.000	T	T	22154522	C	T	22154522	3	4	183	1	0	0	0	0	1	0	0	0	17814	913	32	3	532	3	ZNF208	19	22154522	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	2816069	22154522	36974461	192	45654											
NKPD1	284353	genome.wustl.edu	37	chr19	45656300	45656300	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgcccaccacgcgctccggGtagcacgtgtccagcccggt	6	5	12	18	6	0	0	0	0	0	0	2	0	2	0	5	2	2	3	5	2	1	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:45656300G>A	ENST00000438936.2	-	3	940	c.729C>T	c.(727-729)taC>taT	p.Y243Y	NKPD1_ENST00000429338.1_Silent_p.Y243Y|NKPD1_ENST00000589776.1_Silent_p.Y243Y|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000317951.4_Silent_p.Y465Y			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	243	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGCGCTCCGGGTAGCACGTGT	0.657																																																	0													11	13	12					19																	45656300		2132	4236	6368	SO:0001819	synonymous_variant	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.729C>T	19.37:g.45656300G>A			B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	pfam_KAP_NTPase	p.Y465	ENST00000438936.2	37	c.1395		19																																																																																			NKPD1	-	pfam_KAP_NTPase	ENSG00000179846		0.657	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	-	0	48	0	G	NM_198478		45656300	-1	tier1	-	no_errors	ENST00000317951	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.999	A	A	45656300	G	A	45656300	2	1	183	1	0	0	0	0	0	0	0	1	10485	1256	44	3		3	NKPD1	19	45656300	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	23501778	45656300	13472683	193	45655											
PRKD2	25865	genome.wustl.edu	37	chr19	47181824	47181824	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtagccctggttgagcaGcacctcgggtgccaggtagg	6	9	16	10	1	0	1	0	1	0	0	1	1	0	1	3	4	4	6	3	4	2	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:47181824G>A	ENST00000291281.4	-	16	2392	c.2167C>T	c.(2167-2169)Ctg>Ttg	p.L723L	PRKD2_ENST00000600194.1_Silent_p.L566L|PRKD2_ENST00000593492.1_5'UTR|PRKD2_ENST00000595515.1_Silent_p.L723L|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000601806.1_Silent_p.L566L|PRKD2_ENST00000433867.1_Silent_p.L723L			Q9BZL6	KPCD2_HUMAN	protein kinase D2	723	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)		TGGTTGAGCAGCACCTCGGGT	0.612																																																	0													139	106	117					19																	47181824		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2167C>T	19.37:g.47181824G>A			Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.L723	ENST00000291281.4	37	c.2167	CCDS12689.1	19																																																																																			PRKD2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105287		0.612	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	-	0	55	0	G	NM_016457		47181824	-1	tier1	-	no_errors	ENST00000291281	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	A	A	47181824	G	A	47181824	2	1	183	1	0	0	0	0	0	0	0	1	12561	962	34	3		3	PRKD2	19	47181824	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	1525524	47181824	11947159	194	45656											
PRKD2	25865	genome.wustl.edu	37	chr19	47207558	47207558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagcagcatcttgtccaGctcaatggggcggcccgtat	8	8	14	11	2	2	1	1	0	1	1	3	2	3	1	2	4	3	4	2	4	2	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:47207558G>A	ENST00000291281.4	-	5	982	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	PRKD2_ENST00000600194.1_Silent_p.L96L|PRKD2_ENST00000595515.1_Silent_p.L253L|PRKD2_ENST00000601806.1_Silent_p.L96L|PRKD2_ENST00000433867.1_Silent_p.L253L			Q9BZL6	KPCD2_HUMAN	protein kinase D2	253					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)		ATCTTGTCCAGCTCAATGGGG	0.592											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													188	161	170					19																	47207558		2203	4300	6503	SO:0001819	synonymous_variant	0			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.757C>T	19.37:g.47207558G>A		945	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.L253	ENST00000291281.4	37	c.757	CCDS12689.1	19																																																																																			PRKD2	-	NULL	ENSG00000105287		0.592	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	-	0	54	0	G	NM_016457		47207558	-1	tier1	-	no_errors	ENST00000291281	ensembl	human	known	74_37	silent	27.78	26	10	SNP	0.977	A	A	47207558	G	A	47207558	2	1	183	1	0	0	0	0	0	0	0	1	12561	962	34	3		3	PRKD2	19	47207558	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	25734	47207558	11921425	195	45657											
MYH14	79784	genome.wustl.edu	37	chr19	50783349	50783349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagtccaaaaccatccGtcttagcaaggagctgagca	12	7	11	11	1	1	2	0	2	1	0	3	3	3	3	3	2	4	4	3	2	4	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:50783349G>A	ENST00000596571.1	+	28	3965	c.3965G>A	c.(3964-3966)cGt>cAt	p.R1322H	MYH14_ENST00000262269.8_Missense_Mutation_p.R1363H|MYH14_ENST00000440075.2_Missense_Mutation_p.R1363H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1363H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1330H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1330H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1355H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1322					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)		AAAACCATCCGTCTTAGCAAG	0.612																																																	0													56	64	61					19																	50783349		2181	4265	6446	SO:0001583	missense	0			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.3965G>A	19.37:g.50783349G>A	ENSP00000472819:p.Arg1322His		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1363H	ENST00000596571.1	37	c.4088	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728113	0.69074	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	3.38	3.38	0.38709	Myosin tail (1);	.	.	.	.	T	0.79828	0.4513	L	0.50333	1.59	0.34404	D	0.695581	D;D;D	0.67145	0.996;0.99;0.993	P;P;P	0.59703	0.862;0.86;0.781	D	0.83720	0.0192	9	0.87932	D	0	.	6.7016	0.23229	0.1313:0.0:0.8686:0.0	.	1363;1322;1330	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1322;1363;1355;1330;1363	ENSP00000406273:R1363H;ENSP00000366169:R1355H;ENSP00000407879:R1330H;ENSP00000262269:R1363H	ENSP00000262269:R1363H	R	+	2	0	MYH14	55475161	1.000000	0.71417	0.999000	0.59377	0.760000	0.43138	5.762000	0.68809	1.922000	0.55676	0.455000	0.32223	CGT	MYH14	-	pfam_Myosin_tail	ENSG00000105357		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	-	0	122	0	G	NM_024729		50783349	1	tier1	-	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	8.33	76	7	SNP	1.000	A	A	50783349	G	A	50783349	3	1	183	1	0	0	0	0	1	0	0	0	10071	1145	40	1	4206	1	MYH14	19	50783349	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	3575791	50783349	8345634	196	45658											
KLK11	11012	genome.wustl.edu	37	chr19	51525871	51525871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtgtagacaccaggctttCgggtgatcgcacacggatcc	8	9	12	12	4	0	2	0	1	0	1	4	3	1	3	2	3	0	3	2	3	1	2	rs200362022		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:51525871C>T	ENST00000594768.1	-	6	964	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	KLK11_ENST00000600362.1_Missense_Mutation_p.R87Q|KLK10_ENST00000391805.1_5'Flank|KLK11_ENST00000319720.7_Missense_Mutation_p.R228Q|KLK11_ENST00000453757.3_Missense_Mutation_p.R228Q|KLK10_ENST00000309958.3_5'Flank|KLK10_ENST00000358789.3_5'Flank|KLK11_ENST00000391804.3_Missense_Mutation_p.R253Q|KLK11_ENST00000594458.1_5'Flank	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	260	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		ACCAGGCTTTCGGGTGATCGC	0.572																																																	0													157	147	150					19																	51525871		2203	4300	6503	SO:0001583	missense	0			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"Kallikreins", "Serine peptidases / Serine peptidases"	6359	protein-coding gene	gene with protein product		604434	"kallikrein 11"	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.779G>A	19.37:g.51525871C>T	ENSP00000473047:p.Arg260Gln		O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.R260Q	ENST00000594768.1	37	c.779	CCDS12818.1	19	.	.	.	.	.	.	.	.	.	.	c	9.034	0.988090	0.18966	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.88741	-2.42;-2.42;-2.42	4.42	-0.277	0.12898	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.414158	0.17023	U	0.190034	T	0.72153	0.3425	N	0.08118	0	0.09310	N	1	B;B	0.32829	0.386;0.253	B;B	0.22753	0.041;0.028	T	0.63580	-0.6605	10	0.56958	D	0.05	.	8.4759	0.33012	0.0:0.6617:0.0:0.3383	.	260;253	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	Q	253;228;228;260	ENSP00000375680:R253Q;ENSP00000324269:R228Q;ENSP00000413958:R228Q	ENSP00000324269:R228Q	R	-	2	0	KLK11	56217683	0.001000	0.12720	0.004000	0.12327	0.608000	0.37181	-0.015000	0.12634	-0.076000	0.12775	0.305000	0.20034	CGA	KLK11	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167757		0.572	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	HGNC	protein_coding	OTTHUMT00000464314.2		0	39	0	C	NM_006853		51525871	-1			no_errors	ENST00000594768	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.000	T	T	51525871	C	T	51525871	3	4	183	1	0	0	0	0	1	0	0	0	8426	884	31	1	73	1	KLK11	19	51525871	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	742522	51525871	7603112	197	45659											
ZNF175	7728	genome.wustl.edu	37	chr19	52090212	52090212	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtttgaagctgaacctaGaagtgaacggtcagaatgaa	17	8	11	5	1	1	6	1	4	0	2	1	6	1	6	1	1	3	2	1	1	8	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:52090212G>C	ENST00000262259.2	+	5	986	c.628G>C	c.(628-630)Gaa>Caa	p.E210Q	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	210					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GCTGAACCTAGAAGTGAACGG	0.463																																																	0													83	78	80					19																	52090212		2203	4299	6502	SO:0001583	missense	0			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.628G>C	19.37:g.52090212G>C	ENSP00000262259:p.Glu210Gln		A8K9H2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E210Q	ENST00000262259.2	37	c.628	CCDS12837.1	19	.	.	.	.	.	.	.	.	.	.	G	9.475	1.096541	0.20552	.	.	ENSG00000105497	ENST00000262259	T	0.07216	3.21	2.73	1.59	0.23543	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.51233	D	0.999916	B	0.28760	0.221	B	0.27076	0.076	T	0.47368	-0.9123	9	0.12766	T	0.61	.	4.9517	0.14017	0.202:0.0:0.798:0.0	.	210	Q9Y473	ZN175_HUMAN	Q	210	ENSP00000262259:E210Q	ENSP00000262259:E210Q	E	+	1	0	ZNF175	56782024	0.000000	0.05858	0.803000	0.32268	0.365000	0.29674	0.647000	0.24812	0.416000	0.25844	-0.345000	0.07892	GAA	ZNF175	-	NULL	ENSG00000105497		0.463	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF175	HGNC	protein_coding	OTTHUMT00000396205.1	-	0	45	0	G	NM_007147		52090212	1	tier1	-	no_errors	ENST00000262259	ensembl	human	known	74_37	missense	20.00	28	7	SNP	0.802	C	C	52090212	G	C	52090212	3	2	183	1	0	0	0	0	1	0	0	0	17793	943	33	5	642	5	ZNF175	19	52090212	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	564341	52090212	7038771	198	45660											
FPR2	2358	genome.wustl.edu	37	chr19	52272212	52272212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggttcctgtgtaagttaAttcacatcgtggtggacatc	8	14	11	8	1	1	0	1	0	0	0	4	1	2	1	1	3	0	4	1	3	2	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:52272212A>G	ENST00000598776.1	+	2	1073	c.301A>G	c.(301-303)Att>Gtt	p.I101V	FPR2_ENST00000598953.1_Missense_Mutation_p.I101V|FPR2_ENST00000340023.6_Missense_Mutation_p.I101V	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	101					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTGTAAGTTAATTCACATCGT	0.493																																																	0													173	149	157					19																	52272212		2203	4300	6503	SO:0001583	missense	0			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.301A>G	19.37:g.52272212A>G	ENSP00000468897:p.Ile101Val		A8K3E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt	p.I101V	ENST00000598776.1	37	c.301	CCDS12840.1	19	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.727983	0.00694	.	.	ENSG00000171049	ENST00000340023	T	0.35605	1.3	3.61	-6.3	0.02007	GPCR, rhodopsin-like superfamily (1);	0.595996	0.15540	N	0.257023	T	0.06462	0.0166	N	0.00510	-1.415	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.21348	-1.0248	10	0.02654	T	1	.	7.4562	0.27268	0.3733:0.1311:0.4955:0.0	.	101	P25090	FPR2_HUMAN	V	101	ENSP00000340191:I101V	ENSP00000340191:I101V	I	+	1	0	FPR2	56964024	0.247000	0.23920	0.000000	0.03702	0.568000	0.35870	0.526000	0.22971	-1.718000	0.01383	-0.415000	0.06103	ATT	FPR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt	ENSG00000171049		0.493	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	-	0	72	0	A	NM_001005738		52272212	1	tier1	-	no_errors	ENST00000340023	ensembl	human	known	74_37	missense	30.88	47	21	SNP	0.005	G	G	52272212	A	G	52272212	3	3	183	1	0	0	0	0	1	0	0	0	6063	101	4	4	303	4	FPR2	19	52272212	Missense_Mutation	SNP	A	TCGA-Z6-A9VB-01A-21D-A37C-09	182000	52272212	6856771	199	45661											
FPR2	2358	genome.wustl.edu	37	chr19	52272818	52272818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaaccccatgctttacGtctttgtgggccaagacttc	7	12	8	14	1	2	1	1	0	1	1	3	1	2	1	4	1	3	1	4	1	3	4	rs373596683		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:52272818G>A	ENST00000598776.1	+	2	1679	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	FPR2_ENST00000598953.1_Missense_Mutation_p.V303I|FPR2_ENST00000340023.6_Missense_Mutation_p.V303I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	303					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CATGCTTTACGTCTTTGTGGG	0.532																																																	0								G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	116	107	110		907,907	2.9	0.5	19		110	1,8599		0,1,4299	no	missense,missense	FPR2	NM_001005738.1,NM_001462.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	303/352,303/352	52272818	1,13005	2203	4300	6503	SO:0001583	missense	0			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.907G>A	19.37:g.52272818G>A	ENSP00000468897:p.Val303Ile		A8K3E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt	p.V303I	ENST00000598776.1	37	c.907	CCDS12840.1	19	.	.	.	.	.	.	.	.	.	.	.	17.54	3.415399	0.62511	0.0	1.16E-4	ENSG00000171049	ENST00000340023	T	0.15139	2.45	3.96	2.9	0.33743	.	0.078226	0.52532	U	0.000070	T	0.38268	0.1034	M	0.85373	2.75	0.37032	D	0.896741	D	0.62365	0.991	P	0.58391	0.838	T	0.53641	-0.8410	10	0.87932	D	0	.	11.018	0.47701	0.0:0.0:0.8129:0.1871	.	303	P25090	FPR2_HUMAN	I	303	ENSP00000340191:V303I	ENSP00000340191:V303I	V	+	1	0	FPR2	56964630	1.000000	0.71417	0.511000	0.27724	0.249000	0.25844	5.805000	0.69143	1.005000	0.39183	0.484000	0.47621	GTC	FPR2	-	prints_GPCR_Rhodpsn,prints_Anphylx_rcpt	ENSG00000171049		0.532	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	-	0	33	0	G	NM_001005738		52272818	1	tier1	-	no_errors	ENST00000340023	ensembl	human	known	74_37	missense	61.90	8	13	SNP	1.000	A	A	52272818	G	A	52272818	3	1	183	1	0	0	0	0	1	0	0	0	6063	1145	40	1	909	1	FPR2	19	52272818	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	606	52272818	6856165	200	45662											
SAPS1	22870	genome.wustl.edu	37	chr19	55748329	55748329	+	Frame_Shift_Del	DEL	A	A	-																															gtgatgttggctgtcttgtcAaaaggtgcgctaggagagaa																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:55748329delA	ENST00000412770.2	-	16	2327	c.1761delT	c.(1759-1761)tttfs	p.F587fs	AC010327.1_ENST00000581390.1_RNA|PPP6R1_ENST00000587283.1_Frame_Shift_Del_p.F587fs	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	587					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CTGTCTTGTCAAAAGGTGCGC	0.572																																																	0													85	90	89					19																	55748329		2123	4226	6349	SO:0001589	frameshift_variant	0			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.1761delT	19.37:g.55748329delA	ENSP00000414202:p.Phe587fs		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Frame_Shift_Del	DEL	pfam_SAPS,superfamily_ARM-type_fold	p.F587fs	ENST00000412770.2	37	c.1761	CCDS46186.1	19																																																																																			PPP6R1	-	superfamily_ARM-type_fold	ENSG00000105063		0.572	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP6R1	HGNC	protein_coding	OTTHUMT00000452663.1		0	44	0	A	NM_014931		55748329	-1	tier1		no_errors	ENST00000412770	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-	-	55748329	A	-	55748329	7	5	183	1	0	1	0	1	0	0	0	0	13881	127	5	0	920	0	SAPS1	19	55748329	Frame_Shift_Del	DEL	A	TCGA-Z6-A9VB-01A-21D-A37C-09	3475511	55748329	3380654	201	45663											
ZNF579	163033	genome.wustl.edu	37	chr19	56090030	56090030	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcgggcagcggggccaGcaggctgagggggccgtgga	5	2	22	12	5	0	1	0	1	0	0	0	2	0	2	3	7	2	3	3	7	0	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr19:56090030G>A	ENST00000325421.4	-	2	1004	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		AGCGGGGCCAGCAGGCTGAGG	0.756																																																	0													10	15	13					19																	56090030		2134	4160	6294	SO:0001819	synonymous_variant	0			AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"Zinc fingers, C2H2-type"	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.976C>T	19.37:g.56090030G>A				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L326	ENST00000325421.4	37	c.976	CCDS12927.1	19																																																																																			ZNF579	-	NULL	ENSG00000218891		0.756	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF579	HGNC	protein_coding	OTTHUMT00000453348.1		0	21	0	G	NM_152600		56090030	-1			no_errors	ENST00000325421	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.961	A	A	56090030	G	A	56090030	2	1	183	1	0	0	0	0	0	0	0	1	18059	962	34	3		3	ZNF579	19	56090030	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	341701	56090030	3038953	202	45664											
CST1	1469	genome.wustl.edu	37	chr20	23731294	23731294	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgttgcctggctcttagTacccgcagcggacgtctgta	6	11	11	13	3	2	0	0	0	2	0	2	1	2	1	3	2	3	5	3	2	3	4	rs3188307		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr20:23731294T>C	ENST00000304749.2	-	1	280	c.210A>G	c.(208-210)gtA>gtG	p.V70V	CST1_ENST00000398402.1_Silent_p.V70V	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	70					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)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TGGCTCTTAGTACCCGCAGCG	0.567																																																	0													130	105	113					20																	23731294		2203	4300	6503	SO:0001819	synonymous_variant	0			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.210A>G	20.37:g.23731294T>C			Q96LE6|Q9UCQ6	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.V70	ENST00000304749.2	37	c.210	CCDS13160.1	20																																																																																			CST1	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000170373		0.567	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST1	HGNC	protein_coding	OTTHUMT00000078351.2	-	0	56	0	T	NM_001898		23731294	-1	tier1	rs3188307	no_errors	ENST00000304749	ensembl	human	known	74_37	silent	80.00	11	44	SNP	0.132	C	C	23731294	T	C	23731294	2	2	183	1	0	0	0	0	0	0	0	1	3979	1625	57	4		4	CST1	20	23731294	Silent	SNP	T	TCGA-Z6-A9VB-01A-21D-A37C-09		23731294	39294226	203	45665											
DEFB119	245932	genome.wustl.edu	37	chr20	29976886	29976886	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggacatctgaggagtgGtccagccaaggattccatga	10	10	13	8	0	1	2	0	2	1	0	3	5	3	5	3	4	1	0	3	4	1	2	rs556128922		TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr20:29976886G>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376315.2_Missense_Mutation_p.T70N	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTGAGGAGTGGTCCAGCCAAG	0.403													G|||	1	0.000199681	0	0	5008	,	,		20886	0.001		0	False		,,,				2504	0																0													150	133	139					20																	29976886		2203	4300	6503	SO:0001627	intron_variant	0			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1339C>A	20.37:g.29976886G>T			Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	superfamily_Scorpion_toxin-like	p.T70N	ENST00000376321.3	37	c.209	CCDS13178.1	20	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302864	0.81136	.	.	ENSG00000180483	ENST00000376315	T	0.37752	1.18	3.72	3.72	0.42706	.	0.731612	0.11844	N	0.523987	T	0.56485	0.1988	.	.	.	0.22521	N	0.99903	D	0.89917	1.0	D	0.74674	0.984	T	0.41574	-0.9501	9	0.87932	D	0	-15.0031	11.2883	0.49234	0.0:0.0:1.0:0.0	.	70	Q8N690-2	.	N	70	ENSP00000365492:T70N	ENSP00000365492:T70N	T	-	2	0	DEFB119	29440547	0.107000	0.21998	0.588000	0.28705	0.862000	0.49288	2.110000	0.41873	2.385000	0.81259	0.563000	0.77884	ACC	DEFB119	-	NULL	ENSG00000180483		0.403	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB119	HGNC	protein_coding	OTTHUMT00000078514.1	-	0	54	0	G	NM_153289		29976886	-1	tier1	-	no_errors	ENST00000376315	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.597	T	T	29976886	G	T	29976886	1	4	183	0	1	0	0	0	0	0	0	0	4420	1261	44	3		3	DEFB119	20	29976886	Intron	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	6245592	29976886	33048634	204	45666											
GNAS	2778	genome.wustl.edu	37	chr20	57428515	57428515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	atccccgtcgagaatgatggCgaggcctgtggacccccaga	9	6	13	13	3	0	3	0	1	0	2	2	6	1	4	5	3	0	0	5	3	1	0			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr20:57428515C>T	ENST00000306120.3	+	1	5	c.5C>T	c.(4-6)gCg>gTg	p.A2V	GNAS_ENST00000371099.2_Silent_p.G65G|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371102.4_Silent_p.G65G|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Silent_p.G65G|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGAATGATGGCGAGGCCTGTG	0.652			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													21	24	23					20																	57428515		1891	4115	6006	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.5C>T	20.37:g.57428515C>T	ENSP00000302237:p.Ala2Val		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	NULL	p.A2V	ENST00000306120.3	37	c.5		20	.	.	.	.	.	.	.	.	.	.	C	6.645	0.487499	0.12641	.	.	ENSG00000087460	ENST00000306120	.	.	.	4.55	1.26	0.21427	.	.	.	.	.	T	0.09423	0.0232	.	.	.	0.22066	N	0.999384	.	.	.	.	.	.	T	0.35574	-0.9783	5	0.02654	T	1	.	3.1745	0.06564	0.1796:0.5449:0.1744:0.1011	.	.	.	.	V	2	.	ENSP00000302237:A2V	A	+	2	0	GNAS	56861910	0.000000	0.05858	0.055000	0.19348	0.010000	0.07245	-1.202000	0.03023	0.168000	0.19655	0.557000	0.71058	GCG	GNAS	-	NULL	ENSG00000087460		0.652	GNAS-050	PUTATIVE	basic	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000267987.1		0	47	0	C	NM_000516		57428515	1			no_errors	ENST00000306120	ensembl	human	putative	74_37	missense	6.90	27	2	SNP	0.234	T	T	57428515	C	T	57428515	3	4	183	1	0	0	0	0	1	0	0	0	6536	768	27	1	939	1	GNAS	20	57428515	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	27451629	57428515	5597005	205	45667											
TUBB1	81027	genome.wustl.edu	37	chr20	57599831	57599831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatggagccagaagataaggGacattaactgtgagagaagc	17	6	13	5	0	0	4	0	1	0	3	0	7	0	6	1	2	3	0	1	2	5	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr20:57599831G>A	ENST00000217133.1	+	4	1618	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	450					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GAAGATAAGGGACATTAACTG	0.473																																																	0													54	49	51					20																	57599831		2194	4279	6473	SO:0001583	missense	0			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.1349G>A	20.37:g.57599831G>A	ENSP00000217133:p.Gly450Glu			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.G450E	ENST00000217133.1	37	c.1349	CCDS13475.1	20	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821573	0.32237	.	.	ENSG00000101162	ENST00000217133	T	0.78481	-1.18	5.22	-1.7	0.08159	.	8.207450	0.00397	N	0.000051	T	0.60547	0.2277	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53443	-0.8438	10	0.87932	D	0	.	7.1453	0.25579	0.4129:0.1921:0.3951:0.0	.	450	Q9H4B7	TBB1_HUMAN	E	450	ENSP00000217133:G450E	ENSP00000217133:G450E	G	+	2	0	TUBB1	57033226	0.023000	0.18921	0.000000	0.03702	0.007000	0.05969	0.542000	0.23222	-0.624000	0.05611	-0.150000	0.13652	GGA	TUBB1	-	NULL	ENSG00000101162		0.473	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1	-	0	37	0	G	NM_030773		57599831	1	tier1	-	no_errors	ENST00000217133	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.000	A	A	57599831	G	A	57599831	3	1	183	1	0	0	0	0	1	0	0	0	16802	1174	41	3	1363	3	TUBB1	20	57599831	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	171316	57599831	5425689	206	45668											
BACE2	25825	genome.wustl.edu	37	chr21	42629162	42629162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttccccatccacaaatgcGctggtgatcggtgccacggt	8	10	10	13	3	0	1	0	1	0	0	3	1	2	1	4	3	2	1	4	3	1	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr21:42629162G>A	ENST00000330333.6	+	8	1675	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	BACE2_ENST00000347667.5_Silent_p.A354A|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Intron	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	404					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)				CCACAAATGCGCTGGTGATCG	0.567																																																	0													88	77	81					21																	42629162		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1212G>A	21.37:g.42629162G>A			A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1	p.A404	ENST00000330333.6	37	c.1212	CCDS13668.1	21																																																																																			BACE2	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom	ENSG00000182240		0.567	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE2	HGNC	protein_coding	OTTHUMT00000195056.1	-	0	36	0	G			42629162	1	tier1	-	no_errors	ENST00000330333	ensembl	human	known	74_37	silent	46.43	15	13	SNP	0.769	A	A	42629162	G	A	42629162	2	1	183	1	0	0	0	0	0	0	0	1	1283	1074	38	1		1	BACE2	21	42629162	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		42629162	5500733	207	45669											
ODF3B	440836	genome.wustl.edu	37	chr22	50970479	50970479	+	Frame_Shift_Del	DEL	A	A	-																															gcggggccggtgtggccgccAaaggcccacccaggcgtccg																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chr22:50970479delA	ENST00000428989.2	-	1	27	c.28delT	c.(28-30)tggfs	p.W10fs	TYMP_ENST00000395681.1_5'Flank|TYMP_ENST00000252029.3_5'Flank|ODF3B_ENST00000401779.1_Frame_Shift_Del_p.W10fs|ODF3B_ENST00000405135.1_Frame_Shift_Del_p.W10fs|TYMP_ENST00000395678.3_5'Flank|TYMP_ENST00000395680.1_5'Flank|ODF3B_ENST00000329363.4_Frame_Shift_Del_p.W10fs|ODF3B_ENST00000403326.1_Frame_Shift_Del_p.W10fs			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	10										lung(2)	2						TGTGGCCGCCAAAGGCCCACC	0.751																																																	0													3	3	3					22																	50970479		1531	3469	5000	SO:0001589	frameshift_variant	0				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.28delT	22.37:g.50970479delA	ENSP00000390712:p.Trp10fs		A0PK18	Frame_Shift_Del	DEL	pfam_SHIPPO-rpt	p.W10fs	ENST00000428989.2	37	c.28	CCDS43039.1	22																																																																																			ODF3B	-	NULL	ENSG00000177989		0.751	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF3B	HGNC	protein_coding	OTTHUMT00000317626.2		0	16	0	A			50970479	-1	tier1		no_errors	ENST00000329363	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.954	-	-	50970479	A	-	50970479	7	5	183	1	0	1	0	1	0	0	0	0	10869	130	5	0	757	0	ODF3B	22	50970479	Frame_Shift_Del	DEL	A	TCGA-Z6-A9VB-01A-21D-A37C-09		50970479	334087	208	45670											
SH3KBP1	30011	genome.wustl.edu	37	chrX	19702016	19702016	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	attggcttgtctttgaaaatGtctccaaagcccactccctt	9	14	6	12	0	2	1	0	1	2	0	4	1	3	1	3	1	1	1	3	1	3	4			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:19702016G>T	ENST00000397821.3	-	6	941	c.651C>A	c.(649-651)gaC>gaA	p.D217E	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.D261E|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D180E	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	217					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						CTTTGAAAATGTCTCCAAAGC	0.453																																																	0													171	151	158					X																	19702016		2203	4300	6503	SO:0001583	missense	0			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.651C>A	X.37:g.19702016G>T	ENSP00000380921:p.Asp217Glu		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.D217E	ENST00000397821.3	37	c.651	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192016	0.58017	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.56103	1.29;1.34;0.64;0.77;0.48;0.71	5.82	-0.7	0.11273	.	1.004850	0.08032	U	0.993675	T	0.71187	0.3310	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.999;0.994	P;D	0.72625	0.907;0.978	T	0.69833	-0.5038	10	0.66056	D	0.02	-14.5649	12.1812	0.54214	0.5096:0.0:0.4904:0.0	.	217;180	Q96B97;Q5JPT5	SH3K1_HUMAN;.	E	202;217;125;180;197;261;164;125	ENSP00000380921:D217E;ENSP00000369020:D180E;ENSP00000369049:D197E;ENSP00000369019:D261E;ENSP00000388766:D164E;ENSP00000409292:D125E	ENSP00000369019:D261E	D	-	3	2	SH3KBP1	19611937	0.999000	0.42202	0.996000	0.52242	0.967000	0.64934	0.795000	0.26972	-0.238000	0.09724	-0.340000	0.08031	GAC	SH3KBP1	-	NULL	ENSG00000147010		0.453	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	-	0	42	0	G	NM_031892		19702016	-1	tier1	-	no_errors	ENST00000397821	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.991	T	T	19702016	G	T	19702016	3	4	183	1	0	0	0	0	1	0	0	0	14300	1368	48	3	1414	3	SH3KBP1	23	19702016	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09		19702016	135568544	209	45671											
FAM47A	158724	genome.wustl.edu	37	chrX	34149759	34149759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggagtcttgggaggctccgGgcttagatgggacactccag	7	8	16	10	2	1	1	0	0	1	1	3	4	3	4	2	5	0	2	2	5	1	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:34149759G>T	ENST00000346193.3	-	1	688	c.637C>A	c.(637-639)Ccg>Acg	p.P213T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	213	Pro-rich.									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						GGAGGCTCCGGGCTTAGATGG	0.632																																																	0													38	41	40					X																	34149759		2200	4297	6497	SO:0001583	missense	0			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.637C>A	X.37:g.34149759G>T	ENSP00000345029:p.Pro213Thr		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.P213T	ENST00000346193.3	37	c.637	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	G	8.037	0.762957	0.15914	.	.	ENSG00000185448	ENST00000346193	T	0.22539	1.95	0.235	0.235	0.15431	.	.	.	.	.	T	0.33904	0.0879	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.11446	-1.0587	8	0.59425	D	0.04	.	.	.	.	.	213	Q5JRC9	FA47A_HUMAN	T	213	ENSP00000345029:P213T	ENSP00000345029:P213T	P	-	1	0	FAM47A	34059680	0.420000	0.25457	0.002000	0.10522	0.002000	0.02628	0.748000	0.26305	0.288000	0.22398	0.292000	0.19580	CCG	FAM47A	-	NULL	ENSG00000185448		0.632	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	-	0	86	0	G	NM_203408		34149759	-1	tier1	-	no_errors	ENST00000346193	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.046	T	T	34149759	G	T	34149759	3	4	183	1	0	0	0	0	1	0	0	0	5591	1232	43	3	1742	3	FAM47A	23	34149759	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	14447743	34149759	121120801	210	45672											
PCDH11X	27328	genome.wustl.edu	37	chrX	91873866	91873866	+	Frame_Shift_Del	DEL	C	C	-																															aattaaagtcattcctttgaCaaccttcactccacgccaac																										TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:91873866delC	ENST00000373094.1	+	7	4816	c.3971delC	c.(3970-3972)acafs	p.T1325fs	PCDH11X_ENST00000298274.8_Frame_Shift_Del_p.T1288fs|PCDH11X_ENST00000373097.1_Frame_Shift_Del_p.T1315fs|PCDH11X_ENST00000361655.2_Frame_Shift_Del_p.T1307fs|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373088.1_Frame_Shift_Del_p.T1288fs|PCDH11X_ENST00000406881.1_Frame_Shift_Del_p.T1317fs	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1325					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						ATTCCTTTGACAACCTTCACT	0.423																																					NSCLC(38;925 1092 2571 38200 45895)												0													159	147	151					X																	91873866		2203	4300	6503	SO:0001589	frameshift_variant	0			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.3971delC	X.37:g.91873866delC	ENSP00000362186:p.Thr1325fs		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T1324fs	ENST00000373094.1	37	c.3971	CCDS14461.1	X																																																																																			PCDH11X	-	NULL	ENSG00000102290		0.423	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1		0	49	0	C	NM_032969		91873866	1	tier1		no_errors	ENST00000373094	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	0.419	-	-	91873866	C	-	91873866	7	5	183	1	0	1	0	1	0	0	0	0	11547	478	17	0	4119	0	PCDH11X	23	91873866	Frame_Shift_Del	DEL	C	TCGA-Z6-A9VB-01A-21D-A37C-09	57724107	91873866	63396694	211	45673											
DRP2	1821	genome.wustl.edu	37	chrX	100509527	100509527	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatctgcctgtgcaatcagtGctggaggctgactacagtga	9	11	12	9	0	2	2	1	2	1	0	2	3	2	3	1	2	4	3	1	2	3	2			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:100509527G>T	ENST00000395209.3	+	18	2618	c.2091G>T	c.(2089-2091)gtG>gtT	p.V697V	DRP2_ENST00000538510.1_Silent_p.V697V|DRP2_ENST00000541709.1_Silent_p.V619V|DRP2_ENST00000402866.1_Silent_p.V697V	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	697					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGCAATCAGTGCTGGAGGCTG	0.537																																																	0													73	53	60					X																	100509527		2203	4300	6503	SO:0001819	synonymous_variant	0			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2091G>T	X.37:g.100509527G>T			A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.V697	ENST00000395209.3	37	c.2091	CCDS14480.2	X																																																																																			DRP2	-	pirsf_Dystrophin-related_2	ENSG00000102385		0.537	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	-	0	31	0	G	NM_001939		100509527	1	tier1	-	no_errors	ENST00000395209	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.985	T	T	100509527	G	T	100509527	2	4	183	1	0	0	0	0	0	0	0	1	4778	1306	46	3		3	DRP2	23	100509527	Silent	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	8635661	100509527	54761033	212	45674											
TAF7L	54457	genome.wustl.edu	37	chrX	100531458	100531458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttcatcatcctcatcCtcatcatcatcattgttact	9	17	1	14	0	9	0	8	0	1	0	11	0	11	0	2	0	1	1	2	0	1	3			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:100531458C>A	ENST00000372907.3	-	10	1019	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D	TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.E250D	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	336	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						catcctcatcctcatcatcat	0.393																																					Ovarian(104;431 1530 3210 15406 18594)												0													229	186	200					X																	100531458		2203	4300	6503	SO:0001583	missense	0			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.1008G>T	X.37:g.100531458C>A	ENSP00000361998:p.Glu336Asp		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.E336D	ENST00000372907.3	37	c.1008	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	c	10.90	1.481599	0.26598	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.04119	3.7;3.79	4.32	-5.59	0.02505	Armadillo-like helical (1);	0.966231	0.08422	N	0.948154	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.48328	-0.9045	10	0.24483	T	0.36	-0.2263	6.3701	0.21477	0.6807:0.1418:0.0918:0.0857	.	336	Q5H9L4	TAF7L_HUMAN	D	336;250	ENSP00000361998:E336D;ENSP00000349235:E250D	ENSP00000349235:E250D	E	-	3	2	TAF7L	100418114	0.429000	0.25530	0.000000	0.03702	0.479000	0.33129	-0.596000	0.05720	-0.835000	0.04234	-0.381000	0.06696	GAG	TAF7L	-	NULL	ENSG00000102387		0.393	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	-	0	22	0	C			100531458	-1	tier1	-	no_errors	ENST00000372907	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.006	A	A	100531458	C	A	100531458	3	1	183	1	0	0	0	0	1	0	0	0	15580	680	24	3	396	3	TAF7L	23	100531458	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	21931	100531458	54739102	213	45675											
SAGE1	55511	genome.wustl.edu	37	chrX	134993792	134993792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaaaatgatcaaacccCtcctgatggcttcctgtcaa	12	10	8	11	0	2	2	2	2	0	0	4	4	4	3	4	2	1	1	4	2	4	1			TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:134993792C>A	ENST00000370709.3	+	17	2201	c.2201C>A	c.(2200-2202)cCt>cAt	p.P734H	SAGE1_ENST00000537770.1_Missense_Mutation_p.P358H|SAGE1_ENST00000324447.3_Missense_Mutation_p.P734H|SAGE1_ENST00000535938.1_Missense_Mutation_p.P734H			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	734						nucleus (GO:0005634)		p.P734L(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GATCAAACCCCTCCTGATGGC	0.418																																																	1	Substitution - Missense(1)	lung(1)											126	122	123					X																	134993792		2203	4300	6503	SO:0001583	missense	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2201C>A	X.37:g.134993792C>A	ENSP00000359743:p.Pro734His		Q5JNW0	Missense_Mutation	SNP	NULL	p.P734H	ENST00000370709.3	37	c.2201	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849602	0.32699	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.33865	1.39;1.39;1.43;1.39	2.25	1.13	0.20643	.	0.705406	0.13976	U	0.349807	T	0.44159	0.1280	L	0.47716	1.5	0.09310	N	1	D;D	0.67145	0.994;0.996	D;D	0.66847	0.916;0.947	T	0.13602	-1.0503	10	0.59425	D	0.04	.	4.6819	0.12739	0.3692:0.6308:0.0:0.0	.	358;734	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	H	734;734;358;734	ENSP00000323191:P734H;ENSP00000445959:P734H;ENSP00000438276:P358H;ENSP00000359743:P734H	ENSP00000323191:P734H	P	+	2	0	SAGE1	134821458	0.000000	0.05858	0.004000	0.12327	0.065000	0.16274	0.266000	0.18534	1.055000	0.40461	0.179000	0.17066	CCT	SAGE1	-	NULL	ENSG00000181433		0.418	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	-	0	24	0	C	NM_018666		134993792	1	tier1	-	no_errors	ENST00000324447	ensembl	human	known	74_37	missense	73.33	4	11	SNP	0.057	A	A	134993792	C	A	134993792	3	1	183	1	0	0	0	0	1	0	0	0	13854	681	24	3	2267	3	SAGE1	23	134993792	Missense_Mutation	SNP	C	TCGA-Z6-A9VB-01A-21D-A37C-09	34462334	134993792	20276768	214	45676											
IRAK1	3654	genome.wustl.edu	37	chrX	153282028	153282028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggacccggcaaagcGgctgaaccgggccaggccaa	9	2	17	13	3	0	1	0	1	0	0	0	2	0	2	4	7	2	3	4	7	3	0	rs143993525	byFrequency	TCGA-Z6-A9VB-01A-21D-A37C-09	TCGA-Z6-A9VB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f9c01a82-b616-4c45-bae1-edaa23ffb138	2b2f2f99-9750-41ac-84a6-fb779e11b166	g.chrX:153282028G>A	ENST00000369980.3	-	9	1263	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	IRAK1_ENST00000429936.2_Missense_Mutation_p.R392C|IRAK1_ENST00000369974.2_Missense_Mutation_p.R366C|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393687.2_Missense_Mutation_p.R366C|IRAK1_ENST00000393682.1_Missense_Mutation_p.R392C	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGCAAAGCGGCTGAACCGG	0.647																																																	0								G	CYS/ARG,CYS/ARG,CYS/ARG	0,3835		0,0,0,1632,571	40	40	40		1096,1096,1096	4.8	1	X	dbSNP_134	40	5,6723		0,4,1,2424,1871	yes	missense,missense,missense	IRAK1	NM_001025242.1,NM_001025243.1,NM_001569.3	180,180,180	0,4,1,4056,2442	AA,AG,A,GG,G		0.0743,0.0,0.0473	probably-damaging,probably-damaging,probably-damaging	366/683,366/634,366/713	153282028	5,10558	2203	4300	6503	SO:0001583	missense	0			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1096C>T	X.37:g.153282028G>A	ENSP00000358997:p.Arg366Cys		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R366C	ENST00000369980.3	37	c.1096	CCDS14740.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.41|19.41	3.821616|3.821616	0.71028|0.71028	0.0|0.0	7.43E-4|7.43E-4	ENSG00000184216|ENSG00000184216	ENST00000443220|ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	.|T;D;D;T;T	.|0.93604	.|1.33;-3.25;-3.25;1.33;1.33	4.85|4.85	4.85|4.85	0.62838|0.62838	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.52532	.|D	.|0.000064	D|D	0.95137|0.95137	0.8424|0.8424	L|L	0.48642|0.48642	1.525|1.525	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.74674	.|0.93;0.984;0.972	D|D	0.95748|0.95748	0.8789|0.8789	5|10	.|0.72032	.|D	.|0.01	-24.8586|-24.8586	15.9129|15.9129	0.79485|0.79485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|366;366;366	.|P51617-4;P51617;P51617-2	.|.;IRAK1_HUMAN;.	L|C	136|366;366;392;366;392	.|ENSP00000358997:R366C;ENSP00000358991:R366C;ENSP00000377287:R392C;ENSP00000377291:R366C;ENSP00000392662:R392C	.|ENSP00000358991:R366C	P|R	-|-	2|1	0|0	IRAK1|IRAK1	152935222|152935222	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.970000|0.970000	0.65996|0.65996	3.897000|3.897000	0.56273|0.56273	2.002000|2.002000	0.58637|0.58637	0.529000|0.529000	0.55759|0.55759	CCG|CGC	IRAK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000184216		0.647	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	-	0	57	0	G			153282028	-1	tier1	rs143993525	no_errors	ENST00000369980	ensembl	human	known	74_37	missense	52.83	25	28	SNP	1.000	A	A	153282028	G	A	153282028	3	1	183	1	0	0	0	0	1	0	0	0	7848	1116	39	1	1066	1	IRAK1	23	153282028	Missense_Mutation	SNP	G	TCGA-Z6-A9VB-01A-21D-A37C-09	18288236	153282028	1988532	215	45677											
KIAA0562	9731	genome.wustl.edu	37	chr1	3756340	3756340	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagagatatagtcagatttCctaaagggaagaaatgcata	17	9	11	4	0	1	3	1	0	0	3	2	6	2	5	1	2	1	1	1	2	7	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:3756340C>T	ENST00000378230.3	-	7	891	c.567G>A	c.(565-567)agG>agA	p.R189R	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	189						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						AGTCAGATTTCCTAAAGGGAA	0.428																																																	0													104	102	103					1																	3756340		2203	4300	6503	SO:0001630	splice_region_variant	0			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.567-1G>A	1.37:g.3756340C>T			Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Silent	SNP	superfamily_Galactose-bd-like,superfamily_ARM-type_fold	p.R189	ENST00000378230.3	37	c.567	CCDS30571.1	1																																																																																			CEP104	-	NULL	ENSG00000116198		0.428	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP104	HGNC	protein_coding	OTTHUMT00000009747.3	-	0	57	0	C	NM_014704	Silent	3756340	-1	tier1	-	no_errors	ENST00000378230	ensembl	human	known	74_37	silent	29.55	31	13	SNP	0.998	T	T	3756340	C	T	3756340	5	4	184	1	0	0	0	0	0	0	1	0	8211	869	30	3	2274	3	KIAA0562	1	3756340	Splice_Site	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09		3756340	245494281	1	45678											
RNF207	388591	genome.wustl.edu	37	chr1	6266692	6266692	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgctgtgccacgtgcagtacGagcgcccgtgtcttctggac	5	9	13	14	5	2	0	0	0	2	0	2	2	2	1	2	1	4	3	2	1	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:6266692G>C	ENST00000377939.4	+	2	224	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	RP1-120G22.11_ENST00000455744.1_RNA|RNF207_ENST00000377948.2_5'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	33						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|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;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|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;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGTGCAGTACGAGCGCCCGTG	0.687																																																	0													46	45	45					1																	6266692		2201	4300	6501	SO:0001583	missense	0			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.97G>C	1.37:g.6266692G>C	ENSP00000367173:p.Glu33Gln		A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.E33Q	ENST00000377939.4	37	c.97	CCDS59.2	1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275632	0.59649	.	.	ENSG00000158286	ENST00000377939	D	0.87103	-2.21	4.33	3.41	0.39046	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.229124	0.26582	U	0.023573	T	0.79311	0.4424	N	0.12853	0.265	0.80722	D	1	P;P	0.51147	0.905;0.942	P;P	0.51385	0.525;0.668	T	0.73382	-0.4000	10	0.22109	T	0.4	-19.9625	8.2802	0.31896	0.0926:0.1689:0.7385:0.0	.	33;33	Q6ZRF8;Q6ZRF8-2	RN207_HUMAN;.	Q	33	ENSP00000367173:E33Q	ENSP00000367173:E33Q	E	+	1	0	RNF207	6189279	0.986000	0.35501	0.765000	0.31456	0.885000	0.51271	1.248000	0.32827	0.819000	0.34492	-0.698000	0.03680	GAG	RNF207	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000158286		0.687	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF207	HGNC	protein_coding	OTTHUMT00000003669.2	-	0	46	0	G	NM_207396		6266692	1	tier1	-	no_errors	ENST00000377939	ensembl	human	novel	74_37	missense	24.24	25	8	SNP	0.988	C	C	6266692	G	C	6266692	3	2	184	1	0	0	0	0	1	0	0	0	13519	1059	37	5	99	5	RNF207	1	6266692	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2510352	6266692	242983929	2	45679											
KLHL21	9903	genome.wustl.edu	37	chr1	6659289	6659289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacggcacgcagtggtggaGcagttgtccatggggtaggt	7	8	17	9	2	0	0	0	0	0	0	1	1	1	1	2	6	1	5	2	6	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:6659289G>C	ENST00000377658.4	-	2	1296	c.1245C>G	c.(1243-1245)tgC>tgG	p.C415W	KLHL21_ENST00000463043.1_Missense_Mutation_p.C48W|KLHL21_ENST00000377663.3_Missense_Mutation_p.C415W|KLHL21_ENST00000467612.1_Missense_Mutation_p.C48W	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	415					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	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;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CAGTGGTGGAGCAGTTGTCCA	0.647																																																	0													119	110	113					1																	6659289		2203	4300	6503	SO:0001583	missense	0			AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"Kelch-like", "BTB/POZ domain containing"	29041	protein-coding gene	gene with protein product			"kelch-like 21 (Drosophila)"				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1245C>G	1.37:g.6659289G>C	ENSP00000366886:p.Cys415Trp		B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C415W	ENST00000377658.4	37	c.1245	CCDS30575.1	1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944657	0.53079	.	.	ENSG00000162413	ENST00000377658;ENST00000377663	T;T	0.67523	-0.27;-0.27	5.14	1.01	0.19927	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.76271	0.3964	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.70487	0.788;0.969	T	0.74306	-0.3708	10	0.66056	D	0.02	.	9.4049	0.38455	0.3054:0.0:0.6946:0.0	.	415;415	Q9UJP4;Q9UJP4-2	KLH21_HUMAN;.	W	415	ENSP00000366886:C415W;ENSP00000366891:C415W	ENSP00000366886:C415W	C	-	3	2	KLHL21	6581876	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.296000	0.33389	0.001000	0.14605	-0.136000	0.14681	TGC	KLHL21	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000162413		0.647	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL21	HGNC	protein_coding	OTTHUMT00000004188.1		0	26	0	G	NM_014851		6659289	-1			no_errors	ENST00000377658	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	C	C	6659289	G	C	6659289	3	2	184	1	0	0	0	0	1	0	0	0	8403	963	34	5	560	5	KLHL21	1	6659289	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	392597	6659289	242591332	3	45680											
CLSTN1	22883	genome.wustl.edu	37	chr1	9796040	9796040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttatccgcgagtttcccgGaacggagagttaagccagcc	9	9	11	12	4	1	1	0	0	1	1	3	4	3	2	4	2	3	2	4	2	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:9796040G>A	ENST00000377298.4	-	12	2429	c.1637C>T	c.(1636-1638)tCc>tTc	p.S546F	CLSTN1_ENST00000361311.4_Missense_Mutation_p.S536F|CLSTN1_ENST00000377288.3_Missense_Mutation_p.S527F|CLSTN1_ENST00000477264.1_5'Flank	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	546					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)	p.S546C(1)		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)		GAGTTTCCCGGAACGGAGAGT	0.572																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											108	100	103					1																	9796040		2203	4300	6503	SO:0001583	missense	0			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.1637C>T	1.37:g.9796040G>A	ENSP00000366513:p.Ser546Phe		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S546F	ENST00000377298.4	37	c.1637	CCDS30580.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921475	0.92249	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.82121	0.4968	L	0.45581	1.43	0.80722	D	1	P;D;D	0.57899	0.953;0.976;0.981	P;P;P	0.61328	0.887;0.82;0.887	T	0.81590	-0.0863	10	0.52906	T	0.07	-24.2187	19.9983	0.97395	0.0:0.0:1.0:0.0	.	527;536;546	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	F	546;536;347;527;527	ENSP00000366513:S546F;ENSP00000354997:S536F;ENSP00000401934:S347F;ENSP00000366502:S527F	ENSP00000354997:S536F	S	-	2	0	CLSTN1	9718627	1.000000	0.71417	0.995000	0.50966	0.822000	0.46500	9.869000	0.99810	2.724000	0.93272	0.561000	0.74099	TCC	CLSTN1	-	superfamily_ConA-like_lec_gl_sf	ENSG00000171603		0.572	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	-	0	48	0	G			9796040	-1	tier1	-	no_errors	ENST00000377298	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A	A	9796040	G	A	9796040	3	1	184	1	0	0	0	0	1	0	0	0	3568	1174	41	3	1340	3	CLSTN1	1	9796040	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3136751	9796040	239454581	4	45681											
UBE4B	10277	genome.wustl.edu	37	chr1	10218487	10218487	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcatattagcaccattttTaaaagcctttggcaaaacat	15	14	4	8	0	1	0	1	0	0	0	1	0	1	0	2	1	3	2	2	1	7	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:10218487T>A	ENST00000253251.8	+	21	3452	c.2613T>A	c.(2611-2613)ttT>ttA	p.F871L	UBE4B_ENST00000377157.3_Missense_Mutation_p.F755L|UBE4B_ENST00000343090.6_Missense_Mutation_p.F1000L					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)		GCACCATTTTTAAAAGCCTTT	0.433																																																	0													113	112	112					1																	10218487		2203	4300	6503	SO:0001583	missense	0			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.2613T>A	1.37:g.10218487T>A	ENSP00000253251:p.Phe871Leu			Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.F1000L	ENST00000253251.8	37	c.3000	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468900	0.43839	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.41065	1.01;1.01;1.01	5.32	0.152	0.14893	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	N	0.01824	-0.7	0.58432	D	0.999991	B;B	0.23854	0.053;0.092	B;B	0.23574	0.047;0.028	T	0.34950	-0.9808	10	0.02654	T	1	-19.9233	9.4255	0.38576	0.0:0.4878:0.0:0.5122	.	1000;871	O95155;O95155-2	UBE4B_HUMAN;.	L	871;755;1000	ENSP00000253251:F871L;ENSP00000366362:F755L;ENSP00000343001:F1000L	ENSP00000253251:F871L	F	+	3	2	UBE4B	10141074	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.832000	0.39151	0.055000	0.16094	0.460000	0.39030	TTT	UBE4B	-	pfam_Ub_conjug_fac_E4_core	ENSG00000130939		0.433	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	-	0	80	0	T	NM_006048		10218487	1	tier1	-	no_errors	ENST00000343090	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	A	A	10218487	T	A	10218487	3	1	184	1	0	0	0	0	1	0	0	0	16932	1751	61	5	3086	5	UBE4B	1	10218487	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	422447	10218487	239032134	5	45682											
KIF1B	23095	genome.wustl.edu	37	chr1	10434400	10434400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagccaattcccgggcctCtagtccctgcccagaatttg	9	9	9	14	1	1	2	0	0	1	2	3	2	3	2	5	1	2	0	5	1	4	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:10434400C>G	ENST00000377086.1	+	46	5175	c.4973C>G	c.(4972-4974)tCt>tGt	p.S1658C	KIF1B_ENST00000377081.1_Missense_Mutation_p.S1658C|KIF1B_ENST00000263934.6_Missense_Mutation_p.S1612C			O60333	KIF1B_HUMAN	kinesin family member 1B	1658					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)		TCCCGGGCCTCTAGTCCCTGC	0.428																																																	0													132	150	144					1																	10434400		2203	4300	6503	SO:0001583	missense	0			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.4973C>G	1.37:g.10434400C>G	ENSP00000366290:p.Ser1658Cys		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1612C	ENST00000377086.1	37	c.4835		1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789569	0.50102	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.16196	2.36;2.36;2.36	5.62	5.62	0.85841	.	0.058574	0.64402	D	0.000001	T	0.27169	0.0666	L	0.47716	1.5	0.58432	D	0.999999	P;B;P;B;P;P	0.51653	0.895;0.01;0.895;0.0;0.947;0.91	P;B;P;B;B;P	0.49683	0.524;0.002;0.619;0.0;0.443;0.505	T	0.00271	-1.1859	10	0.39692	T	0.17	.	19.6632	0.95882	0.0:1.0:0.0:0.0	.	1644;1618;1658;1632;1658;1612	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	C	1658;1612;1658;1658	ENSP00000263934:S1612C;ENSP00000366290:S1658C;ENSP00000366284:S1658C	ENSP00000263934:S1612C	S	+	2	0	KIF1B	10356987	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.291000	0.78721	2.625000	0.88918	0.655000	0.94253	TCT	KIF1B	-	NULL	ENSG00000054523		0.428	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	-	0	71	0	C			10434400	1	tier1	-	no_errors	ENST00000263934	ensembl	human	known	74_37	missense	32.84	45	22	SNP	1.000	G	G	10434400	C	G	10434400	3	3	184	1	0	0	0	0	1	0	0	0	8311	913	32	5	6494	5	KIF1B	1	10434400	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	215913	10434400	238816221	6	45683											
PTCHD2	57540	genome.wustl.edu	37	chr1	11561424	11561424	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgacgctctcactctggcGcttaagtcccagtttggatc	6	13	9	13	3	2	0	1	0	2	0	6	2	3	1	1	2	0	3	1	2	1	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:11561424G>A	ENST00000294484.6	+	2	513	c.375G>A	c.(373-375)gcG>gcA	p.A125A	PTCHD2_ENST00000389575.3_Silent_p.A125A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	125					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)		TCACTCTGGCGCTTAAGTCCC	0.582																																																	0													48	49	49					1																	11561424		2058	4192	6250	SO:0001819	synonymous_variant	0			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.375G>A	1.37:g.11561424G>A			Q5VTU9|Q9UJD6	Silent	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.A125	ENST00000294484.6	37	c.375	CCDS41247.1	1																																																																																			PTCHD2	-	NULL	ENSG00000204624		0.582	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	-	0	38	0	G	XM_052561		11561424	1	tier1	-	no_errors	ENST00000294484	ensembl	human	known	74_37	silent	14.58	41	7	SNP	0.924	A	A	11561424	G	A	11561424	2	1	184	1	0	0	0	0	0	0	0	1	12775	1074	38	1		1	PTCHD2	1	11561424	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1127024	11561424	237689197	7	45684											
PLOD1	5351	genome.wustl.edu	37	chr1	12012751	12012751	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaggacagcgacagcgatCagctgttttacaccaagatc	12	7	10	12	2	1	1	1	0	0	1	2	4	1	2	2	1	4	2	2	1	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:12012751C>T	ENST00000196061.4	+	5	565	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	PLOD1_ENST00000376369.3_Nonsense_Mutation_p.Q227*|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	180					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CGACAGCGATCAGCTGTTTTA	0.617																																																	0													95	88	90					1																	12012751		2203	4300	6503	SO:0001587	stop_gained	0			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.538C>T	1.37:g.12012751C>T	ENSP00000196061:p.Gln180*		B4DR87|Q96AV9|Q9H132	Nonsense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.Q227*	ENST00000196061.4	37	c.679	CCDS142.1	1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512114	0.64522	.	.	ENSG00000083444	ENST00000358133;ENST00000376369;ENST00000429000;ENST00000196061	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5981	0.84802	0.0:1.0:0.0:0.0	.	.	.	.	X	180;227;180;180	.	ENSP00000196061:Q180X	Q	+	1	0	PLOD1	11935338	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	7.596000	0.82721	2.380000	0.81148	0.555000	0.69702	CAG	PLOD1	-	NULL	ENSG00000083444		0.617	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	HGNC	protein_coding	OTTHUMT00000006865.1	-	0	45	0	C	NM_000302		12012751	1	tier1	-	no_errors	ENST00000376369	ensembl	human	known	74_37	nonsense	37.74	33	20	SNP	1.000	T	T	12012751	C	T	12012751	4	4	184	1	0	0	0	0	0	1	0	0	12140	827	29	3	556	3	PLOD1	1	12012751	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	451327	12012751	237237870	8	45685											
PLOD1	5351	genome.wustl.edu	37	chr1	12012771	12012771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgttttacaccaagatCttcttggacccggagaagag	11	10	10	10	1	2	3	0	0	2	3	2	5	2	4	2	2	2	2	2	2	3	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:12012771C>G	ENST00000196061.4	+	5	585	c.558C>G	c.(556-558)atC>atG	p.I186M	PLOD1_ENST00000376369.3_Missense_Mutation_p.I233M|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	186					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	ACACCAAGATCTTCTTGGACC	0.617																																																	0													76	72	74					1																	12012771		2203	4300	6503	SO:0001583	missense	0			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.558C>G	1.37:g.12012771C>G	ENSP00000196061:p.Ile186Met		B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.I233M	ENST00000196061.4	37	c.699	CCDS142.1	1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423077	0.62733	.	.	ENSG00000083444	ENST00000358133;ENST00000376369;ENST00000429000;ENST00000196061	T;T;T	0.32988	1.43;1.43;1.43	4.61	4.61	0.57282	.	0.054803	0.64402	D	0.000001	T	0.51381	0.1671	M	0.83483	2.645	0.58432	D	0.999997	D;P	0.57899	0.981;0.948	P;P	0.53224	0.721;0.595	T	0.62039	-0.6938	10	0.87932	D	0	.	16.5981	0.84802	0.0:1.0:0.0:0.0	.	233;186	B4DR87;Q02809	.;PLOD1_HUMAN	M	186;233;186;186	ENSP00000365548:I233M;ENSP00000405372:I186M;ENSP00000196061:I186M	ENSP00000196061:I186M	I	+	3	3	PLOD1	11935358	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	1.356000	0.34079	2.380000	0.81148	0.555000	0.69702	ATC	PLOD1	-	NULL	ENSG00000083444		0.617	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	HGNC	protein_coding	OTTHUMT00000006865.1	-	0	39	0	C	NM_000302		12012771	1	tier1	-	no_errors	ENST00000376369	ensembl	human	known	74_37	missense	44.74	21	17	SNP	1.000	G	G	12012771	C	G	12012771	3	3	184	1	0	0	0	0	1	0	0	0	12140	903	32	5	576	5	PLOD1	1	12012771	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	20	12012771	237237850	9	45686											
PDPN	10630	genome.wustl.edu	37	chr1	13933769	13933769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgactccaggaaccagcGaagaccgctataagtctggc	11	7	12	11	2	1	2	0	1	1	1	2	4	2	3	3	3	2	1	3	3	4	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:13933769G>A	ENST00000509009.1	+	2	198	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	PDPN_ENST00000487038.1_Missense_Mutation_p.E15K|PDPN_ENST00000513143.1_Missense_Mutation_p.E15K|PDPN_ENST00000294489.6_Missense_Mutation_p.E133K|PDPN_ENST00000376061.4_Missense_Mutation_p.E15K|PDPN_ENST00000475043.1_Missense_Mutation_p.E15K|PDPN_ENST00000376057.4_Missense_Mutation_p.E133K					podoplanin											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)		AGGAACCAGCGAAGACCGCTA	0.517																																																	0													82	76	78					1																	13933769		2203	4300	6503	SO:0001583	missense	0			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	ENST00000509009.1:c.154G>A	1.37:g.13933769G>A	ENSP00000422977:p.Glu52Lys			Missense_Mutation	SNP	pfam_Podoplanin	p.E133K	ENST00000509009.1	37	c.397		1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029363	0.35797	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	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	3.92	-1.11	0.09840	.	1.663320	0.02733	N	0.115339	T	0.24236	0.0587	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.20671	0.047;0.047;0.009;0.009	B;B;B;B	0.17979	0.02;0.02;0.007;0.007	T	0.17623	-1.0363	10	0.06891	T	0.86	4.1945	7.313	0.26485	0.5151:0.0:0.4849:0.0	.	57;15;133;133	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	K	133;133;124;52;15;15;15;15	ENSP00000294489:E133K;ENSP00000365225:E133K;ENSP00000426302:E124K;ENSP00000422977:E52K;ENSP00000365229:E15K;ENSP00000425304:E15K;ENSP00000427537:E15K;ENSP00000426063:E15K	ENSP00000294489:E133K	E	+	1	0	PDPN	13806356	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.078000	0.11375	-0.195000	0.10382	-0.123000	0.14984	GAA	PDPN	-	pfam_Podoplanin	ENSG00000162493		0.517	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	PDPN	HGNC	protein_coding	OTTHUMT00000367736.1	-	0	52	0	G	NM_006474		13933769	1	tier1	-	no_errors	ENST00000294489	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.000	A	A	13933769	G	A	13933769	3	1	184	1	0	0	0	0	1	0	0	0	11727	1059	37	1	403	1	PDPN	1	13933769	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1920998	13933769	235316852	10	45687											
SPEN	23013	genome.wustl.edu	37	chr1	16263970	16263970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctgaccttccagtctctCttcccactcagactgcccca	7	10	5	19	0	3	2	1	1	2	1	6	2	5	2	6	0	2	0	6	0	0	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:16263970C>G	ENST00000375759.3	+	12	10543	c.10339C>G	c.(10339-10341)Ctt>Gtt	p.L3447V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3447	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCAGTCTCTCTTCCCACTCA	0.582																																																	0													87	79	82					1																	16263970		2203	4300	6503	SO:0001583	missense	0				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.10339C>G	1.37:g.16263970C>G	ENSP00000364912:p.Leu3447Val		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.L3447V	ENST00000375759.3	37	c.10339	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	8.961	0.970630	0.18659	.	.	ENSG00000065526	ENST00000375759	T	0.09911	2.93	5.23	5.23	0.72850	.	.	.	.	.	T	0.21881	0.0527	L	0.44542	1.39	0.25707	N	0.985523	P	0.50943	0.94	P	0.55545	0.778	T	0.12400	-1.0549	9	0.23302	T	0.38	-18.0397	19.1612	0.93533	0.0:1.0:0.0:0.0	.	3447	Q96T58	MINT_HUMAN	V	3447	ENSP00000364912:L3447V	ENSP00000364912:L3447V	L	+	1	0	SPEN	16136557	0.975000	0.34042	0.889000	0.34880	0.298000	0.27526	3.688000	0.54699	2.579000	0.87056	0.655000	0.94253	CTT	SPEN	-	NULL	ENSG00000065526		0.582	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	-	0	47	0	C	NM_015001		16263970	1	tier1	-	no_errors	ENST00000375759	ensembl	human	known	74_37	missense	16.98	43	9	SNP	0.993	G	G	16263970	C	G	16263970	3	3	184	1	0	0	0	0	1	0	0	0	15085	913	32	5	10385	5	SPEN	1	16263970	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2330201	16263970	232986651	11	45688											
TAS1R2	80834	genome.wustl.edu	37	chr1	19166648	19166648	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcttgaaggcgcagacGatctggaaagaacgcacggc	12	5	13	11	4	2	3	0	1	2	2	2	5	2	4	1	3	1	2	1	3	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:19166648G>T	ENST00000375371.3	-	6	1986	c.1965C>A	c.(1963-1965)atC>atA	p.I655I		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	655					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)	AGGCGCAGACGATCTGGAAAG	0.607																																																	0													124	128	126					1																	19166648		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1965C>A	1.37:g.19166648G>T			Q5TZ19	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.I655	ENST00000375371.3	37	c.1965	CCDS187.1	1																																																																																			TAS1R2	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000179002		0.607	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	-	0	23	0	G			19166648	-1	tier1	-	no_errors	ENST00000375371	ensembl	human	novel	74_37	silent	38.89	22	14	SNP	0.968	T	T	19166648	G	T	19166648	2	4	184	1	0	0	0	0	0	0	0	1	15610	1048	37	2		2	TAS1R2	1	19166648	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2902678	19166648	230083973	12	45689											
GPR3	2827	genome.wustl.edu	37	chr1	27721276	27721276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagatccccttccgatcccGctcccccagtgatgtctagc	7	9	7	18	2	1	2	0	1	1	1	5	3	5	2	6	0	1	1	6	0	2	2	rs145491319	byFrequency	TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:27721276G>T	ENST00000374024.3	+	2	1073	c.974G>T	c.(973-975)cGc>cTc	p.R325L		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	325					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)		TTCCGATCCCGCTCCCCCAGT	0.527																																																	0													134	129	131					1																	27721276		2203	4300	6503	SO:0001583	missense	0			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.974G>T	1.37:g.27721276G>T	ENSP00000363136:p.Arg325Leu		A8K570	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_GPR_3/6/12_orphan,prints_GPR3,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R325L	ENST00000374024.3	37	c.974	CCDS303.1	1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614195	0.66672	.	.	ENSG00000181773	ENST00000374024	T	0.36520	1.25	5.93	5.93	0.95920	.	2.887400	0.01180	N	0.007067	T	0.65595	0.2706	L	0.52905	1.665	0.45607	D	0.998545	D	0.71674	0.998	D	0.78314	0.991	T	0.44467	-0.9326	10	0.87932	D	0	.	19.1152	0.93336	0.0:0.0:1.0:0.0	.	325	P46089	GPR3_HUMAN	L	325	ENSP00000363136:R325L	ENSP00000363136:R325L	R	+	2	0	GPR3	27593863	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.843000	0.86859	2.815000	0.96918	0.561000	0.74099	CGC	GPR3	-	NULL	ENSG00000181773		0.527	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR3	HGNC	protein_coding	OTTHUMT00000009522.1		0	31	0	G	NM_005281		27721276	1			no_errors	ENST00000374024	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	27721276	G	T	27721276	3	4	184	1	0	0	0	0	1	0	0	0	6712	1087	38	2	976	2	GPR3	1	27721276	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	8554628	27721276	221529345	13	45690											
LAPTM5	7805	genome.wustl.edu	37	chr1	31211805	31211805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accatgtggttcatggacttGaagttgagataggtgggcac	10	11	14	6	0	1	2	1	2	0	1	1	4	1	3	1	4	0	3	1	4	2	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:31211805G>C	ENST00000294507.3	-	5	566	c.492C>G	c.(490-492)ttC>ttG	p.F164L	MIR4420_ENST00000583944.1_RNA|LAPTM5_ENST00000476492.1_5'Flank	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	164					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TCATGGACTTGAAGTTGAGAT	0.557																																																	0													69	54	60					1																	31211805		2203	4300	6503	SO:0001583	missense	0			U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"lysosomal multispanning membrane protein 5"			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.492C>G	1.37:g.31211805G>C	ENSP00000294507:p.Phe164Leu		Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	pfam_LAPTM4/5,tigrfam_LAPTM_4A/5	p.F164L	ENST00000294507.3	37	c.492	CCDS337.1	1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557443	0.27827	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.54279	0.58	5.73	3.84	0.44239	.	0.075891	0.64402	D	0.000016	T	0.40094	0.1103	L	0.50333	1.59	0.30929	N	0.727109	B	0.15930	0.015	B	0.22152	0.038	T	0.38972	-0.9636	10	0.02654	T	1	-58.4551	9.3353	0.38047	0.1711:0.0:0.8289:0.0	.	164	Q13571	LAPM5_HUMAN	L	164	ENSP00000294507:F164L	ENSP00000294507:F164L	F	-	3	2	LAPTM5	30984392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.618000	0.46393	1.418000	0.47098	0.655000	0.94253	TTC	LAPTM5	-	pfam_LAPTM4/5,tigrfam_LAPTM_4A/5	ENSG00000162511		0.557	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAPTM5	HGNC	protein_coding	OTTHUMT00000010463.1	-	0	24	0	G	NM_006762		31211805	-1	tier1	-	no_errors	ENST00000294507	ensembl	human	known	74_37	missense	22.22	42	12	SNP	1.000	C	C	31211805	G	C	31211805	3	2	184	1	0	0	0	0	1	0	0	0	8654	1281	45	5	312	5	LAPTM5	1	31211805	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3490529	31211805	218038816	14	45691											
COL16A1	1307	genome.wustl.edu	37	chr1	32126208	32126208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgtcccgggggaccgggtCttccctggggtcccatggca	3	8	16	14	3	1	0	0	0	1	0	4	1	4	1	4	6	0	1	4	6	0	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:32126208C>G	ENST00000373672.3	-	62	4373	c.3857G>C	c.(3856-3858)aGa>aCa	p.R1286T	RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.R1286T|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1286	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGACCGGGTCTTCCCTGGGG	0.537																																					Colon(143;498 1786 21362 25193 36625)												0													70	74	73					1																	32126208		1910	4122	6032	SO:0001583	missense	0			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.3857G>C	1.37:g.32126208C>G	ENSP00000362776:p.Arg1286Thr		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.R1286T	ENST00000373672.3	37	c.3857	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341178	0.41498	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.94092	-3.23;-3.23;-3.35	5.57	5.57	0.84162	.	0.064475	0.64402	D	0.000011	D	0.94364	0.8188	L	0.41356	1.27	0.36602	D	0.874702	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.99	D	0.91601	0.5295	10	0.09590	T	0.72	.	18.7086	0.91648	0.0:1.0:0.0:0.0	.	1286;1284	Q07092;Q07092-2	COGA1_HUMAN;.	T	1286;1286;143	ENSP00000362776:R1286T;ENSP00000271069:R1286T;ENSP00000390281:R143T	ENSP00000271069:R1286T	R	-	2	0	COL16A1	31898795	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.377000	0.52425	2.793000	0.96121	0.591000	0.81541	AGA	COL16A1	-	NULL	ENSG00000084636		0.537	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	-	0	30	0	C	NM_001856		32126208	-1	tier1	-	no_errors	ENST00000271069	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	G	G	32126208	C	G	32126208	3	3	184	1	0	0	0	0	1	0	0	0	3680	913	32	5	997	5	COL16A1	1	32126208	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	914403	32126208	217124413	15	45692											
BAI2	576	genome.wustl.edu	37	chr1	32222191	32222191	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctgctcctggcggttgaAgcgcaggtagagggagtact	8	8	15	10	2	0	2	0	1	0	1	1	3	1	3	2	4	3	5	2	4	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:32222191A>C	ENST00000373658.3	-	4	588	c.247T>G	c.(247-249)Ttc>Gtc	p.F83V	BAI2_ENST00000398542.1_Missense_Mutation_p.F71V|BAI2_ENST00000527361.1_Missense_Mutation_p.F83V|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398538.1_Missense_Mutation_p.F71V|BAI2_ENST00000398547.1_Missense_Mutation_p.F71V|BAI2_ENST00000257070.4_Missense_Mutation_p.F83V|BAI2_ENST00000398556.3_Missense_Mutation_p.F86V|BAI2_ENST00000373655.2_Missense_Mutation_p.F83V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	83					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)		TGGCGGTTGAAGCGCAGGTAG	0.652																																																	0													46	45	45					1																	32222191		2202	4300	6502	SO:0001583	missense	0			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.247T>G	1.37:g.32222191A>C	ENSP00000362762:p.Phe83Val		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.F83V	ENST00000373658.3	37	c.247	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663933	0.29604	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.39592	1.7;1.88;1.11;1.11;2.05;1.07;1.07;1.12;1.69;1.57	5.04	5.04	0.67666	.	0.000000	0.45126	D	0.000394	T	0.42086	0.1187	N	0.26042	0.785	0.80722	D	1	B;D;P;P;D;B	0.65815	0.184;0.995;0.672;0.473;0.967;0.333	B;P;B;B;P;B	0.59171	0.019;0.853;0.387;0.107;0.692;0.075	T	0.16660	-1.0395	10	0.07030	T	0.85	.	14.0689	0.64849	1.0:0.0:0.0:0.0	.	71;83;71;71;83;83	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	V	86;71;83;83;71;83;83;71;76;117	ENSP00000381564:F86V;ENSP00000381555:F71V;ENSP00000362762:F83V;ENSP00000362759:F83V;ENSP00000381550:F71V;ENSP00000257070:F83V;ENSP00000435397:F83V;ENSP00000381548:F71V;ENSP00000410921:F76V;ENSP00000437219:F117V	ENSP00000257070:F83V	F	-	1	0	BAI2	31994778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.497000	0.90488	2.028000	0.59812	0.379000	0.24179	TTC	BAI2	-	NULL	ENSG00000121753		0.652	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0	62	0	A	NM_001703		32222191	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	23.68	58	18	SNP	1.000	C	C	32222191	A	C	32222191	3	2	184	1	0	0	0	0	1	0	0	0	1300	72	3	4	4630	4	BAI2	1	32222191	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	95983	32222191	217028430	16	45693											
CLSPN	63967	genome.wustl.edu	37	chr1	36211119	36211119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggatcacccatgctgctctCcttctcctgtttatttaact	6	17	5	13	0	3	0	1	0	2	0	5	1	3	1	3	1	3	3	3	1	2	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:36211119C>T	ENST00000318121.3	-	16	2956	c.2899G>A	c.(2899-2901)Gag>Aag	p.E967K	CLSPN_ENST00000520551.1_Missense_Mutation_p.E914K|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000373220.3_Missense_Mutation_p.E903K|CLSPN_ENST00000251195.5_Missense_Mutation_p.E967K	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	967					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGCTGCTCTCCTTCTCCTGT	0.448																																																	0													141	122	128					1																	36211119		2203	4300	6503	SO:0001583	missense	0			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2899G>A	1.37:g.36211119C>T	ENSP00000312995:p.Glu967Lys		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	NULL	p.E967K	ENST00000318121.3	37	c.2899	CCDS396.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579480	0.86645	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.22743	1.94;1.95;1.96;1.96	5.65	5.65	0.86999	.	0.295771	0.37955	N	0.001864	T	0.33059	0.0850	M	0.66939	2.045	0.53688	D	0.99997	P;P	0.52316	0.952;0.914	P;P	0.47430	0.547;0.501	T	0.01617	-1.1311	10	0.36615	T	0.2	-19.7703	18.2859	0.90114	0.0:1.0:0.0:0.0	.	903;967	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	K	967;967;903;914	ENSP00000251195:E967K;ENSP00000312995:E967K;ENSP00000362317:E903K;ENSP00000428848:E914K	ENSP00000251195:E967K	E	-	1	0	CLSPN	35983706	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.071000	0.41500	2.827000	0.97445	0.650000	0.86243	GAG	CLSPN	-	NULL	ENSG00000092853		0.448	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	-	0	55	0	C	NM_022111		36211119	-1	tier1	-	no_errors	ENST00000318121	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	T	T	36211119	C	T	36211119	3	4	184	1	0	0	0	0	1	0	0	0	3567	864	30	3	1160	3	CLSPN	1	36211119	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3988928	36211119	213039502	17	45694											
MACF1	23499	genome.wustl.edu	37	chr1	39800706	39800706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagagtgagagattatttCaagttgaaaatcagtctgca	16	11	10	4	0	3	4	2	2	1	2	3	6	3	4	0	0	1	2	0	0	5	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:39800706C>G	ENST00000372915.3	+	36	8548	c.8461C>G	c.(8461-8463)Caa>Gaa	p.Q2821E	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.Q1256E|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.Q2853E|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.Q2816E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2821					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)			GAGATTATTTCAAGTTGAAAA	0.353																																																	0													51	56	54					1																	39800706		2199	4300	6499	SO:0001583	missense	0			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.8461C>G	1.37:g.39800706C>G	ENSP00000362006:p.Gln2821Glu		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.Q2853E	ENST00000372915.3	37	c.8557		1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.801652	0.00611	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.62941	-0.01;1.01	5.28	1.15	0.20763	.	0.517604	0.17480	N	0.172762	T	0.34513	0.0900	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.08534	-1.0717	10	0.28530	T	0.3	.	2.419	0.04443	0.1694:0.5218:0.1652:0.1435	.	2821	Q9UPN3	MACF1_HUMAN	E	2821;1256	ENSP00000362006:Q2821E;ENSP00000289893:Q1256E	ENSP00000289893:Q1256E	Q	+	1	0	MACF1	39573293	0.000000	0.05858	0.010000	0.14722	0.048000	0.14542	0.227000	0.17795	0.581000	0.29539	0.491000	0.48974	CAA	MACF1	-	superfamily_RNaseH-like_dom	ENSG00000127603		0.353	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	76	0	C	NM_033044		39800706	1	tier1	-	no_errors	ENST00000567887	ensembl	human	putative	74_37	missense	11.39	70	9	SNP	0.000	G	G	39800706	C	G	39800706	3	3	184	1	0	0	0	0	1	0	0	0	9180	827	29	5	8537	5	MACF1	1	39800706	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3589587	39800706	209449915	18	45695											
OXCT2	64064	genome.wustl.edu	37	chr1	40236869	40236869	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgggacagcgcgagccctGagccgccggcggggaccccg	5	2	17	17	6	0	1	0	1	0	0	0	4	0	3	6	4	3	0	6	4	0	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:40236869G>C	ENST00000327582.5	-	1	151	c.59C>G	c.(58-60)tCa>tGa	p.S20*	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	20					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CGCGAGCCCTGAGCCGCCGGC	0.726																																																	0													2	2	2					1																	40236869		1192	2341	3533	SO:0001587	stop_gained	0			AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.59C>G	1.37:g.40236869G>C	ENSP00000361914:p.Ser20*		B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Nonsense_Mutation	SNP	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.S20*	ENST00000327582.5	37	c.59	CCDS445.1	1	.	.	.	.	.	.	.	.	.	.	g	16.58	3.163102	0.57476	.	.	ENSG00000198754	ENST00000327582;ENST00000542949	.	.	.	2.1	1.17	0.20885	.	1.181910	0.06656	U	0.763717	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	4.6155	0.12424	0.1927:0.0:0.8073:0.0	.	.	.	.	X	20	.	ENSP00000361914:S20X	S	-	2	0	OXCT2	40009456	0.007000	0.16637	0.001000	0.08648	0.005000	0.04900	0.324000	0.19610	0.439000	0.26476	0.401000	0.26515	TCA	OXCT2	-	NULL	ENSG00000198754		0.726	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT2	HGNC	protein_coding	OTTHUMT00000025656.1		0	9	0	G	NM_022120		40236869	-1			no_errors	ENST00000327582	ensembl	human	known	74_37	nonsense	37.50	5	3	SNP	0.001	C	C	40236869	G	C	40236869	4	2	184	1	0	0	0	0	0	1	0	0	11369	1294	45	5	1498	5	OXCT2	1	40236869	Nonsense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	436163	40236869	209013752	19	45696											
CDC20	991	genome.wustl.edu	37	chr1	43826244	43826244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgagtgggctccctaagctgGaacagctatatcctgtccag	9	9	11	12	1	0	0	0	0	0	0	3	2	3	1	3	2	3	3	3	2	4	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:43826244G>C	ENST00000372462.1	+	6	1031	c.828G>C	c.(826-828)tgG>tgC	p.W276C	CDC20_ENST00000478882.1_3'UTR|RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Missense_Mutation_p.W276C			Q12834	CDC20_HUMAN	cell division cycle 20	276					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)				CCCTAAGCTGGAACAGCTATA	0.517																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)												0													169	156	161					1																	43826244		2203	4300	6503	SO:0001583	missense	0			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.828G>C	1.37:g.43826244G>C	ENSP00000361540:p.Trp276Cys		B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W276C	ENST00000372462.1	37	c.828	CCDS484.1	1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.855011	0.71719	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.34859	1.34;1.34	6.07	5.13	0.70059	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	0.72510	0.3469	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81269	-0.1009	10	0.87932	D	0	-10.6389	16.8452	0.85978	0.0:0.0:0.8711:0.1289	.	276	Q12834	CDC20_HUMAN	C	252;276;276	ENSP00000308450:W276C;ENSP00000361540:W276C	ENSP00000308450:W276C	W	+	3	0	CDC20	43598831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.001000	0.88508	2.884000	0.98904	0.655000	0.94253	TGG	CDC20	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000117399		0.517	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	HGNC	protein_coding	OTTHUMT00000019488.1	-	0	22	0	G	NM_001255		43826244	1	tier1	-	no_errors	ENST00000310955	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	C	C	43826244	G	C	43826244	3	2	184	1	0	0	0	0	1	0	0	0	3066	1183	41	5	850	5	CDC20	1	43826244	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3589375	43826244	205424377	20	45697											
SLC6A9	6536	genome.wustl.edu	37	chr1	44474228	44474228	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaagaagtagtagaaggcGatgcagatgaccacattgta	16	7	13	5	1	0	5	0	1	0	4	0	7	0	5	1	1	1	4	1	1	6	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:44474228G>A	ENST00000360584.2	-	5	797	c.606C>T	c.(604-606)atC>atT	p.I202I	SLC6A9_ENST00000372306.3_Silent_p.I129I|SLC6A9_ENST00000372310.3_Silent_p.I129I|SLC6A9_ENST00000357730.2_Silent_p.I148I|SLC6A9_ENST00000537678.1_Silent_p.I64I|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372307.3_Silent_p.I64I|SLC6A9_ENST00000475075.2_Silent_p.I18I	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	202					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)	AGTAGAAGGCGATGCAGATGA	0.587																																																	0													110	83	92					1																	44474228		2203	4300	6503	SO:0001819	synonymous_variant	0			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.606C>T	1.37:g.44474228G>A			A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.I202	ENST00000360584.2	37	c.606	CCDS41317.1	1																																																																																			SLC6A9	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000196517		0.587	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	-	0	30	0	G	NM_201649		44474228	-1	tier1	-	no_errors	ENST00000360584	ensembl	human	known	74_37	silent	27.78	26	10	SNP	0.993	A	A	44474228	G	A	44474228	2	1	184	1	0	0	0	0	0	0	0	1	14736	1048	37	1		1	SLC6A9	1	44474228	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	647984	44474228	204776393	21	45698											
BEND5	79656	genome.wustl.edu	37	chr1	49227056	49227056	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccataatctttaacctCtccatcttcttctacatgat	9	17	1	14	0	5	1	0	1	5	0	7	1	6	1	4	0	2	0	4	0	3	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:49227056C>A	ENST00000371833.3	-	2	399	c.313G>T	c.(313-315)Gag>Tag	p.E105*	AGBL4_ENST00000371839.1_Intron|AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_5'Flank	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	105						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						TCTTTAACCTCTCCATCTTCT	0.353																																																	0													244	200	213					1																	49227056		692	1591	2283	SO:0001587	stop_gained	0			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.313G>T	1.37:g.49227056C>A	ENSP00000360899:p.Glu105*		D3DQ27|Q96A62|Q9HAI3	Nonsense_Mutation	SNP	pfam_BEN_domain	p.E105*	ENST00000371833.3	37	c.313	CCDS552.2	1	.	.	.	.	.	.	.	.	.	.	C	32	5.172019	0.94807	.	.	ENSG00000162373	ENST00000371833	.	.	.	5.61	5.61	0.85477	.	0.108794	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2836	19.0051	0.92848	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	.	E	-	1	0	BEND5	48999643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.205000	0.65186	2.814000	0.96858	0.591000	0.81541	GAG	BEND5	-	NULL	ENSG00000162373		0.353	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND5	HGNC	protein_coding	OTTHUMT00000022323.1	-	0	110	0	C	NM_024603		49227056	-1	tier1	-	no_errors	ENST00000371833	ensembl	human	known	74_37	nonsense	15.49	60	11	SNP	1.000	A	A	49227056	C	A	49227056	4	1	184	1	0	0	0	0	0	1	0	0	1402	922	32	3	972	3	BEND5	1	49227056	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	4752828	49227056	200023565	22	45699											
INADL	10207	genome.wustl.edu	37	chr1	62237287	62237287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcctaaatgatacaactCtgcctgaaacagtgagttgc	13	9	9	10	0	1	3	0	3	1	0	1	3	1	3	2	0	6	2	2	0	5	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:62237287C>G	ENST00000371158.2	+	6	823	c.709C>G	c.(709-711)Ctg>Gtg	p.L237V	INADL_ENST00000316485.6_Missense_Mutation_p.L237V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	237					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						TGATACAACTCTGCCTGAAAC	0.368																																																	0													78	72	74					1																	62237287		2203	4300	6503	SO:0001583	missense	0			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.709C>G	1.37:g.62237287C>G	ENSP00000360200:p.Leu237Val		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.L237V	ENST00000371158.2	37	c.709	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	C	0.672	-0.801645	0.02841	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.16897	2.31;2.31	4.6	2.54	0.30619	PDZ/DHR/GLGF (1);	0.343723	0.22513	N	0.059062	T	0.11196	0.0273	L	0.41236	1.265	0.20307	N	0.999919	B;B;B	0.28055	0.199;0.044;0.045	B;B;B	0.29862	0.108;0.024;0.047	T	0.24440	-1.0160	10	0.17369	T	0.5	.	4.0079	0.09610	0.1673:0.5821:0.162:0.0886	.	237;237;237	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	V	237	ENSP00000360200:L237V;ENSP00000326199:L237V	ENSP00000255202:L237V	L	+	1	2	INADL	62009875	0.001000	0.12720	0.777000	0.31699	0.546000	0.35178	0.452000	0.21795	0.903000	0.36546	0.460000	0.39030	CTG	INADL	-	superfamily_PDZ	ENSG00000132849		0.368	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	-	0	47	0	C	NM_170605		62237287	1	tier1	-	no_errors	ENST00000371158	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.227	G	G	62237287	C	G	62237287	3	3	184	1	0	0	0	0	1	0	0	0	7758	912	32	5	727	5	INADL	1	62237287	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	13010231	62237287	187013334	23	45700											
ANGPTL3	27329	genome.wustl.edu	37	chr1	63068045	63068045	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	acaaatatggttttgggaggCttgatggtaaggggactaca	12	11	14	4	0	0	1	0	1	0	0	0	3	0	3	0	6	1	3	0	6	4	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:63068045C>G	ENST00000371129.3	+	5	1005	c.925C>G	c.(925-927)Ctt>Gtt	p.L309V	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	309	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)	p.L309F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						TTTTGGGAGGCTTGATGGTAA	0.358																																																	1	Substitution - Missense(1)	endometrium(1)											154	151	152					1																	63068045		2203	4300	6503	SO:0001583	missense	0			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.925C>G	1.37:g.63068045C>G	ENSP00000360170:p.Leu309Val		A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.L309V	ENST00000371129.3	37	c.925	CCDS622.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948602	0.73787	.	.	ENSG00000132855	ENST00000371129	T	0.77229	-1.08	5.84	5.84	0.93424	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.056772	0.64402	D	0.000003	T	0.78233	0.4251	L	0.61218	1.895	0.58432	D	0.999999	D	0.58268	0.982	P	0.54431	0.752	T	0.72795	-0.4185	10	0.15066	T	0.55	.	20.1438	0.98071	0.0:1.0:0.0:0.0	.	309	Q9Y5C1	ANGL3_HUMAN	V	309	ENSP00000360170:L309V	ENSP00000360170:L309V	L	+	1	0	ANGPTL3	62840633	0.975000	0.34042	0.966000	0.40874	0.837000	0.47467	2.399000	0.44495	2.768000	0.95171	0.650000	0.86243	CTT	ANGPTL3	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000132855		0.358	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL3	HGNC	protein_coding	OTTHUMT00000025344.1	-	0	67	0	C	NM_014495		63068045	1	tier1	-	no_errors	ENST00000371129	ensembl	human	known	74_37	missense	18.42	62	14	SNP	0.997	G	G	63068045	C	G	63068045	3	3	184	1	0	0	0	0	1	0	0	0	615	797	28	5	943	5	ANGPTL3	1	63068045	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	830758	63068045	186182576	24	45701											
FPGT	8790	genome.wustl.edu	37	chr1	74663999	74663999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctccggaagtatcgctgCgagaagccacccagcgaaaa	13	4	10	14	4	0	1	0	0	0	1	2	4	1	2	4	1	3	2	4	1	5	1	rs201738008		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:74663999C>G	ENST00000609362.1	+	1	74	c.37C>G	c.(37-39)Cga>Gga	p.R13G	FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R13G|LRRIQ3_ENST00000370911.3_5'Flank|LRRIQ3_ENST00000354431.4_5'Flank|FPGT_ENST00000482102.2_Missense_Mutation_p.R13G|FPGT_ENST00000524915.1_3'UTR|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R13G|FPGT_ENST00000534056.1_Missense_Mutation_p.R13G|FPGT_ENST00000370898.3_Missense_Mutation_p.R26G|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R13G|FPGT_ENST00000370894.5_Missense_Mutation_p.R13G|LRRIQ3_ENST00000370909.2_5'Flank|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT_ENST00000467578.2_Missense_Mutation_p.R26G|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R26G|FPGT-TNNI3K_ENST00000370893.1_Missense_Mutation_p.R13G	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	13					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AGTATCGCTGCGAGAAGCCAC	0.632																																																	0													52	50	51					1																	74663999		2203	4300	6503	SO:0001583	missense	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.37C>G	1.37:g.74663999C>G	ENSP00000476680:p.Arg13Gly		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R26G	ENST00000609362.1	37	c.76	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450905	0.43531	.	.	ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000467578;ENST00000524915;ENST00000482102;ENST00000370898;ENST00000370894;ENST00000534056;ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000370893	T;T;T;T;T;T	0.75821	1.37;0.81;-0.97;-0.68;-0.96;-0.96	4.7	-2.63	0.06133	.	0.411997	0.22687	N	0.056867	T	0.44973	0.1319	L	0.59436	1.845	0.09310	N	1	P;B;B;B;B;P	0.46395	0.877;0.001;0.001;0.0;0.312;0.692	B;B;B;B;B;B	0.35240	0.198;0.002;0.001;0.001;0.09;0.131	T	0.53913	-0.8371	10	0.72032	D	0.01	.	9.8625	0.41123	0.5683:0.2083:0.2234:0.0	.	13;13;13;13;13;13	B4DH62;E9PNQ2;Q59H18-1;Q59H18-4;Q59H18-3;O14772	.;.;.;.;.;FPGT_HUMAN	G	13	ENSP00000359935:R13G;ENSP00000432819:R13G;ENSP00000359936:R13G;ENSP00000359932:R13G;ENSP00000450895:R13G;ENSP00000359928:R13G	ENSP00000359928:R13G	R	+	1	2	RP11-653A5.2;TNNI3K;AC093158.1	74436587	0.011000	0.17503	0.044000	0.18714	0.388000	0.30384	-0.411000	0.07142	-0.586000	0.05898	-1.383000	0.01170	CGA	FPGT-TNNI3K	-	NULL	ENSG00000259030		0.632	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT-TNNI3K	HGNC	protein_coding		-	0	54	0	C			74663999	1	tier1	rs201738008	no_errors	ENST00000557284	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.011	G	G	74663999	C	G	74663999	3	3	184	1	0	0	0	0	1	0	0	0	6061	760	27	5	39	5	FPGT	1	74663999	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	11595954	74663999	174586622	25	45702											
TNNI3K	100526835	genome.wustl.edu	37	chr1	74715181	74715181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagtcaatttaaattaccGcactgaaaatgggctgtctc	14	12	7	8	1	2	1	1	1	1	0	3	1	2	1	1	1	1	2	1	1	8	4	rs567503494		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:74715181G>A	ENST00000370899.3	+	5	528	c.491G>A	c.(490-492)cGc>cAc	p.R164H	FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R164H|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R164H|FPGT-TNNI3K_ENST00000533006.1_3'UTR|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R63H|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R177H	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TTAAATTACCGCACTGAAAAT	0.333													G|||	1	0.000199681	8e-04	0	5008	,	,		18839	0		0	False		,,,				2504	0																0													153	156	155					1																	74715181		2202	4300	6502	SO:0001583	missense	0					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.491G>A	1.37:g.74715181G>A	ENSP00000359936:p.Arg164His			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R177H	ENST00000370899.3	37	c.530		1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392920	0.83011	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38	5.83	3.95	0.45737	Ankyrin repeat-containing domain (3);	0.054702	0.64402	N	0.000001	T	0.16642	0.0400	L	0.34521	1.04	0.50039	D	0.999849	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.69824	0.925;0.966;0.909;0.909	T	0.01604	-1.1314	10	0.51188	T	0.08	.	10.8712	0.46885	0.0677:0.0:0.8018:0.1305	.	63;164;164;164	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	H	164;164;164;164;63	ENSP00000359936:R164H;ENSP00000359932:R164H;ENSP00000450895:R164H;ENSP00000359928:R164H;ENSP00000322251:R63H	ENSP00000322251:R63H	R	+	2	0	RP11-653A5.2;AC093158.1	74487769	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.409000	0.59768	0.798000	0.33994	-0.126000	0.14955	CGC	FPGT-TNNI3K	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000259030		0.333	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3	-	0	44	0	G			74715181	1	tier1	-	no_errors	ENST00000557284	ensembl	human	known	74_37	missense	21.51	73	20	SNP	1.000	A	A	74715181	G	A	74715181	3	1	184	1	0	0	0	0	1	0	0	0	16376	1087	38	1	553	1	TNNI3K	1	74715181	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	51182	74715181	174535440	26	45703											
SLC44A5	204962	genome.wustl.edu	37	chr1	75805272	75805272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaataattgcttacctgttGgcaacaggccccttgaaatc	13	11	7	10	0	0	1	0	1	0	0	1	1	0	1	3	2	3	3	3	2	6	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:75805272G>A	ENST00000370855.5	-	4	209	c.96C>T	c.(94-96)gcC>gcT	p.A32A	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000370859.3_Silent_p.A32A	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	32					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						CTTACCTGTTGGCAACAGGCC	0.373																																																	0													209	232	224					1																	75805272		2203	4300	6503	SO:0001819	synonymous_variant	0			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.96C>T	1.37:g.75805272G>A			B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	pfam_Choline_transptr-like	p.A32	ENST00000370855.5	37	c.96	CCDS667.1	1																																																																																			SLC44A5	-	NULL	ENSG00000137968		0.373	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	-	0	102	0	G	NM_152697		75805272	-1	tier1	-	no_errors	ENST00000370855	ensembl	human	known	74_37	silent	14.29	84	14	SNP	0.001	A	A	75805272	G	A	75805272	2	1	184	1	0	0	0	0	0	0	0	1	14684	1335	47	3		3	SLC44A5	1	75805272	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1090091	75805272	173445349	27	45704											
PIGK	10026	genome.wustl.edu	37	chr1	77676165	77676165	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacttctaaagaattgttCtgcttgatcctaaataaagc	13	13	6	9	0	2	2	0	1	2	1	3	2	3	2	2	0	2	2	2	0	7	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:77676165C>G	ENST00000370812.3	-	2	126	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	PIGK_ENST00000370813.5_Missense_Mutation_p.E35Q|PIGK_ENST00000445065.1_Intron|PIGK_ENST00000359130.1_Missense_Mutation_p.E35Q|PIGK_ENST00000478391.1_5'UTR	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	35					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						AAGAATTGTTCTGCTTGATCC	0.343																																																	0													41	36	38					1																	77676165		2200	4292	6492	SO:0001583	missense	0			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.103G>C	1.37:g.77676165C>G	ENSP00000359848:p.Glu35Gln		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	pfam_Peptidase_C13,prints_Peptidase_C13	p.E35Q	ENST00000370812.3	37	c.103	CCDS674.1	1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868855	0.51588	.	.	ENSG00000142892	ENST00000370812;ENST00000370813;ENST00000359130	T;T;T	0.49432	0.87;0.78;0.88	4.79	3.87	0.44632	.	0.117150	0.56097	D	0.000027	T	0.25717	0.0626	L	0.29908	0.895	0.21220	N	0.999757	P;B;B	0.42078	0.77;0.033;0.012	P;B;B	0.46144	0.505;0.014;0.005	T	0.09100	-1.0690	10	0.32370	T	0.25	.	13.6309	0.62193	0.1565:0.8435:0.0:0.0	.	35;35;35	B4E2M3;A6NEM5;Q92643	.;.;GPI8_HUMAN	Q	35	ENSP00000359848:E35Q;ENSP00000359849:E35Q;ENSP00000352041:E35Q	ENSP00000352041:E35Q	E	-	1	0	PIGK	77448753	0.988000	0.35896	1.000000	0.80357	0.992000	0.81027	1.482000	0.35486	1.130000	0.42092	0.655000	0.94253	GAA	PIGK	-	NULL	ENSG00000142892		0.343	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGK	HGNC	protein_coding	OTTHUMT00000026687.1	-	0	143	0	C	NM_005482		77676165	-1	tier1	-	no_errors	ENST00000370812	ensembl	human	known	74_37	missense	17.98	144	32	SNP	1.000	G	G	77676165	C	G	77676165	3	3	184	1	0	0	0	0	1	0	0	0	11929	922	32	5	1124	5	PIGK	1	77676165	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1870893	77676165	171574456	28	45705											
USP33	23032	genome.wustl.edu	37	chr1	78163138	78163138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaattccatgtttcttcaGaaatctggccagaatctgct	12	13	7	9	0	4	2	1	0	3	2	5	3	5	2	2	1	1	2	2	1	4	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:78163138G>A	ENST00000370793.1	-	25	3039	c.2693C>T	c.(2692-2694)tCt>tTt	p.S898F	USP33_ENST00000357428.1_Missense_Mutation_p.S898F|USP33_ENST00000370794.3_Missense_Mutation_p.S867F	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	898	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGTTTCTTCAGAAATCTGGCC	0.393																																					Melanoma(152;72 1870 11110 26780 42647)												0													76	83	81					1																	78163138		2203	4300	6503	SO:0001583	missense	0			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.2693C>T	1.37:g.78163138G>A	ENSP00000359829:p.Ser898Phe		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.S898F	ENST00000370793.1	37	c.2693	CCDS678.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884529	0.91814	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.11495	2.78;2.77;2.77	5.0	5.0	0.66597	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	M	0.89601	3.045	0.80722	D	1	P	0.51240	0.943	P	0.57548	0.823	T	0.21690	-1.0238	10	0.54805	T	0.06	.	18.6967	0.91603	0.0:0.0:1.0:0.0	.	898	Q8TEY7	UBP33_HUMAN	F	867;898;898	ENSP00000359830:S867F;ENSP00000359829:S898F;ENSP00000350009:S898F	ENSP00000350009:S898F	S	-	2	0	USP33	77935726	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.318000	0.96334	2.486000	0.83907	0.650000	0.86243	TCT	USP33	-	pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP	ENSG00000077254		0.393	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	-	0	99	0	G	NM_015017		78163138	-1	tier1	-	no_errors	ENST00000357428	ensembl	human	known	74_37	missense	25.23	83	28	SNP	1.000	A	A	78163138	G	A	78163138	3	1	184	1	0	0	0	0	1	0	0	0	17113	942	33	3	139	3	USP33	1	78163138	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	486973	78163138	171087483	29	45706											
CCBL2	56267	genome.wustl.edu	37	chr1	89426940	89426940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatttgatgcaaaggtcagCaattacttgcagttcctctc	11	14	7	9	0	2	1	1	1	1	0	4	1	3	1	1	1	4	4	1	1	4	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:89426940C>G	ENST00000260508.4	-	8	1034	c.697G>C	c.(697-699)Gct>Cct	p.A233P	CCBL2_ENST00000370491.3_Missense_Mutation_p.A199P|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	233					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)		CAAAGGTCAGCAATTACTTGC	0.368																																																	0													176	168	170					1																	89426940		2203	4300	6503	SO:0001583	missense	0			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.697G>C	1.37:g.89426940C>G	ENSP00000260508:p.Ala233Pro		B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.A233P	ENST00000260508.4	37	c.697	CCDS30766.1	1	.	.	.	.	.	.	.	.	.	.	c	25.9	4.688859	0.88639	.	.	ENSG00000137944	ENST00000370491;ENST00000260508;ENST00000370486	D;D;D	0.91945	-2.94;-2.94;-2.94	5.93	5.02	0.67125	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.044558	0.85682	D	0.000000	D	0.97736	0.9257	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99723	1.1010	10	0.87932	D	0	-11.4015	16.7293	0.85431	0.1306:0.8694:0.0:0.0	.	233	Q6YP21	KAT3_HUMAN	P	199;233;233	ENSP00000359522:A199P;ENSP00000260508:A233P;ENSP00000359517:A233P	ENSP00000260508:A233P	A	-	1	0	CCBL2	89199528	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.667000	0.68067	1.533000	0.49186	-0.121000	0.15023	GCT	CCBL2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000137944		0.368	CCBL2-004	KNOWN	basic|CCDS	protein_coding	CCBL2	HGNC	protein_coding	OTTHUMT00000029300.3	-	0	42	0	C	NM_001008661		89426940	-1	tier1	-	no_errors	ENST00000260508	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	G	G	89426940	C	G	89426940	3	3	184	1	0	0	0	0	1	0	0	0	2740	710	25	5	695	5	CCBL2	1	89426940	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	11263802	89426940	159823681	30	45707											
GCLM	2730	genome.wustl.edu	37	chr1	94370138	94370138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaggttttttggatacaatCatgaagctgcaaaaggaatg	15	11	10	5	0	1	1	1	1	0	0	1	3	1	3	0	3	3	3	0	3	7	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:94370138C>G	ENST00000370238.3	-	2	379	c.133G>C	c.(133-135)Gat>Cat	p.D45H	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	45					apoptotic mitochondrial changes (GO:0008637)|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)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|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)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	TGGATACAATCATGAAGCTGC	0.323																																																	0													117	109	111					1																	94370138		2203	4300	6503	SO:0001583	missense	0			L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"gamma-glutamylcysteine synthetase"	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.133G>C	1.37:g.94370138C>G	ENSP00000359258:p.Asp45His		A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.D45H	ENST00000370238.3	37	c.133	CCDS746.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391604	0.83011	.	.	ENSG00000023909	ENST00000370238	T	0.47869	0.83	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.58101	1.795	0.80722	D	1	D	0.57571	0.98	P	0.50231	0.635	T	0.53165	-0.8477	10	0.72032	D	0.01	.	19.6301	0.95699	0.0:1.0:0.0:0.0	.	45	P48507	GSH0_HUMAN	H	45	ENSP00000359258:D45H	ENSP00000359258:D45H	D	-	1	0	GCLM	94142726	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	6.054000	0.71096	2.742000	0.94016	0.655000	0.94253	GAT	GCLM	-	NULL	ENSG00000023909		0.323	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCLM	HGNC	protein_coding	OTTHUMT00000029169.1	-	0	62	0	C	NM_002061		94370138	-1	tier1	-	no_errors	ENST00000370238	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	G	G	94370138	C	G	94370138	3	3	184	1	0	0	0	0	1	0	0	0	6321	826	29	5	715	5	GCLM	1	94370138	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	4943198	94370138	154880483	31	45708											
LPPR4	9890	genome.wustl.edu	37	chr1	99771566	99771566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagaagaccctgtcagaaGaaatgcgagcattcatgcct	13	9	10	9	1	2	4	2	0	0	4	2	5	2	4	2	0	3	2	2	0	4	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:99771566G>A	ENST00000370185.3	+	7	1789	c.1292G>A	c.(1291-1293)aGa>aAa	p.R431K	LPPR4_ENST00000457765.1_Missense_Mutation_p.R373K|LPPR4_ENST00000370184.1_Missense_Mutation_p.R273K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		431					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)	p.R431T(1)		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)		CCTGTCAGAAGAAATGCGAGC	0.488																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											66	67	66					1																	99771566		2203	4300	6503	SO:0001583	missense	0																														ENST00000370185.3:c.1292G>A	1.37:g.99771566G>A	ENSP00000359204:p.Arg431Lys		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.R431K	ENST00000370185.3	37	c.1292	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827185	0.50739	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.33654	1.96;1.7;1.4	5.5	5.5	0.81552	.	0.911782	0.09560	N	0.785679	T	0.54791	0.1880	M	0.67397	2.05	0.49299	D	0.999772	D;D	0.65815	0.99;0.995	D;D	0.72982	0.979;0.935	T	0.45498	-0.9257	9	.	.	.	-26.0602	19.3904	0.94578	0.0:0.0:1.0:0.0	.	373;431	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	K	431;373;431;273	ENSP00000359204:R431K;ENSP00000394913:R373K;ENSP00000359203:R273K	.	R	+	2	0	RP4-788L13.1	99544154	1.000000	0.71417	0.987000	0.45799	0.173000	0.22820	7.508000	0.81686	2.575000	0.86900	0.650000	0.86243	AGA	LPPR4	-	NULL	ENSG00000117600		0.488	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Uniprot_gn	protein_coding	OTTHUMT00000029670.2	-	0	29	0	G			99771566	1	tier1	-	no_errors	ENST00000370185	ensembl	human	known	74_37	missense	39.58	29	19	SNP	1.000	A	A	99771566	G	A	99771566	3	1	184	1	0	0	0	0	1	0	0	0	8962	942	33	3	1318	3	LPPR4	1	99771566	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	5401428	99771566	149479055	32	45709											
WDR47	22911	genome.wustl.edu	37	chr1	109517260	109517260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatcactggaatgaggatGataactttgtaccattcttc	13	13	7	8	0	2	2	1	2	1	0	3	4	2	4	1	2	3	1	1	2	4	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:109517260G>C	ENST00000369962.3	-	14	2737	c.2515C>G	c.(2515-2517)Cat>Gat	p.H839D	WDR47_ENST00000357672.3_Missense_Mutation_p.H811D|WDR47_ENST00000361054.3_Missense_Mutation_p.H811D|WDR47_ENST00000400794.3_Missense_Mutation_p.H847D|WDR47_ENST00000369965.4_Missense_Mutation_p.H840D			O94967	WDR47_HUMAN	WD repeat domain 47	839					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GAATGAGGATGATAACTTTGT	0.438																																																	0													164	138	147					1																	109517260		2203	4300	6503	SO:0001583	missense	0			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2515C>G	1.37:g.109517260G>C	ENSP00000358979:p.His839Asp		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H847D	ENST00000369962.3	37	c.2539	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544749	0.45280	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053413	0.64402	D	0.000001	T	0.22936	0.0554	N	0.02830	-0.485	0.46954	D	0.999264	B;P;B;B	0.36282	0.057;0.546;0.425;0.219	B;B;B;B	0.37267	0.122;0.229;0.121;0.245	T	0.21690	-1.0238	10	0.25751	T	0.34	-14.6273	18.9158	0.92505	0.0:0.0:1.0:0.0	.	811;847;839;840	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	D	847;839;811;840;811	ENSP00000383599:H847D;ENSP00000358979:H839D;ENSP00000354339:H811D;ENSP00000358982:H840D;ENSP00000350301:H811D	ENSP00000350301:H811D	H	-	1	0	WDR47	109318783	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	6.162000	0.71874	2.444000	0.82710	0.655000	0.94253	CAT	WDR47	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085433		0.438	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	-	0	28	0	G	NM_014969		109517260	-1	tier1	-	no_errors	ENST00000400794	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	C	C	109517260	G	C	109517260	3	2	184	1	0	0	0	0	1	0	0	0	17349	1290	45	5	252	5	WDR47	1	109517260	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	9745694	109517260	139733361	33	45710											
PSMA5	5686	genome.wustl.edu	37	chr1	109955703	109955703	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttacctgtgtctccactCtggctttatcaattaaagtc	9	17	5	10	0	3	0	1	0	2	0	5	0	3	0	2	1	1	1	2	1	5	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:109955703C>G	ENST00000271308.4	-	4	298	c.278G>C	c.(277-279)aGa>aCa	p.R93T	PSMA5_ENST00000538610.1_Missense_Mutation_p.R35T|PSMA5_ENST00000490870.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	93					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		TGTCTCCACTCTGGCTTTATC	0.433																																																	0													132	125	128					1																	109955703		2203	4300	6503	SO:0001583	missense	0			X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"Proteasome (prosome, macropain) subunits"	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.278G>C	1.37:g.109955703C>G	ENSP00000271308:p.Arg93Thr		B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.R93T	ENST00000271308.4	37	c.278	CCDS799.1	1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.187339	0.78789	.	.	ENSG00000143106	ENST00000538610;ENST00000271308	T;T	0.27104	1.69;1.69	5.93	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	H	0.98295	4.195	0.53005	D	0.999961	D	0.76494	0.999	D	0.78314	0.991	T	0.79135	-0.1928	9	.	.	.	-4.1748	15.0109	0.71550	0.0:0.857:0.143:0.0	.	93	P28066	PSA5_HUMAN	T	35;93	ENSP00000440618:R35T;ENSP00000271308:R93T	.	R	-	2	0	PSMA5	109757226	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.455000	0.80726	1.499000	0.48617	0.586000	0.80456	AGA	PSMA5	-	pfam_Proteasome_sua/b	ENSG00000143106		0.433	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA5	HGNC	protein_coding	OTTHUMT00000033192.2	-	0	53	0	C	NM_002790		109955703	-1	tier1	-	no_errors	ENST00000271308	ensembl	human	known	74_37	missense	22.95	47	14	SNP	1.000	G	G	109955703	C	G	109955703	3	3	184	1	0	0	0	0	1	0	0	0	12712	913	32	5	471	5	PSMA5	1	109955703	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	438443	109955703	139294918	34	45711											
C1orf103	55791	genome.wustl.edu	37	chr1	111493959	111493959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgaagtaacagttgttGcatcaacagaggaacttatt	13	13	10	5	0	1	2	1	1	0	1	1	3	1	3	0	1	4	5	0	1	5	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:111493959G>T	ENST00000369763.4	-	2	1937	c.1547C>A	c.(1546-1548)gCa>gAa	p.A516E	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AACAGTTGTTGCATCAACAGA	0.388																																																	0													142	138	140					1																	111493959		2203	4300	6503	SO:0001583	missense	0			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1547C>A	1.37:g.111493959G>T	ENSP00000358778:p.Ala516Glu		Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	NULL	p.A516E	ENST00000369763.4	37	c.1547	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474326	0.43942	.	.	ENSG00000121931	ENST00000369763	T	0.33654	1.4	5.82	3.87	0.44632	.	0.201560	0.35151	N	0.003409	T	0.28499	0.0705	L	0.54323	1.7	0.80722	D	1	P	0.46912	0.886	P	0.48425	0.577	T	0.01904	-1.1250	10	0.45353	T	0.12	-11.6657	10.1017	0.42509	0.0:0.1465:0.7029:0.1506	.	516	Q5T3J3	LRIF1_HUMAN	E	516	ENSP00000358778:A516E	ENSP00000358778:A516E	A	-	2	0	LRIF1	111295482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.634000	0.67833	2.757000	0.94681	0.585000	0.79938	GCA	LRIF1	-	NULL	ENSG00000121931		0.388	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	-	0	42	0	G	NM_018372		111493959	-1	tier1	-	no_errors	ENST00000369763	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	111493959	G	T	111493959	3	4	184	1	0	0	0	0	1	0	0	0	1984	1319	46	3	774	3	C1orf103	1	111493959	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1538256	111493959	137756662	35	45712											
CAPZA1	829	genome.wustl.edu	37	chr1	113192078	113192078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ataatgacaatctcctcaggGaaggggcagcacagtaagta	15	7	11	8	0	2	1	1	1	1	0	3	2	2	2	1	3	1	4	1	3	5	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:113192078G>A	ENST00000263168.3	+	3	814	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	48					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCCTCAGGGAAGGGGCAGC	0.368																																																	0													109	104	106					1																	113192078		2203	4300	6503	SO:0001583	missense	0			U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.142G>A	1.37:g.113192078G>A	ENSP00000263168:p.Glu48Lys		Q53FQ6|Q6FHD5	Missense_Mutation	SNP	pfam_CapZ_alpha,prints_CapZ_alpha	p.E48K	ENST00000263168.3	37	c.142	CCDS30805.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601609	0.87055	.	.	ENSG00000116489	ENST00000263168	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	M	0.63428	1.95	0.58432	D	0.999997	P	0.39624	0.681	P	0.52957	0.714	T	0.66114	-0.6004	9	0.41790	T	0.15	-23.8126	18.7748	0.91907	0.0:0.0:1.0:0.0	.	48	P52907	CAZA1_HUMAN	K	48	.	ENSP00000263168:E48K	E	+	1	0	CAPZA1	112993601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.975000	0.88055	2.524000	0.85096	0.591000	0.81541	GAA	CAPZA1	-	pfam_CapZ_alpha	ENSG00000116489		0.368	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA1	HGNC	protein_coding	OTTHUMT00000032567.2	-	0	44	0	G	NM_006135		113192078	1	tier1	-	no_errors	ENST00000263168	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	113192078	G	A	113192078	3	1	184	1	0	0	0	0	1	0	0	0	2647	1175	41	3	152	3	CAPZA1	1	113192078	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1698119	113192078	136058543	36	45713											
TBX15	6913	genome.wustl.edu	37	chr1	119467289	119467289	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtccttgatcatccaactCattgttggtaagcttgagtt	9	16	8	8	0	2	2	2	2	0	0	4	2	4	2	2	1	2	4	2	1	2	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:119467289C>G	ENST00000369429.3	-	4	682	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	TBX15_ENST00000207157.3_Missense_Mutation_p.E119Q			Q96SF7	TBX15_HUMAN	T-box 15	225					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCATCCAACTCATTGTTGGTA	0.448																																																	0													153	145	148					1																	119467289		2203	4300	6503	SO:0001583	missense	0			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.673G>C	1.37:g.119467289C>G	ENSP00000358437:p.Glu225Gln		Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.E119Q	ENST00000369429.3	37	c.355		1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970200	0.92855	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	D;D	0.87966	-2.32;-2.32	5.96	5.96	0.96718	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91352	0.7272	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87437	0.2392	10	0.26408	T	0.33	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	225	Q96SF7	TBX15_HUMAN	Q	119;225	ENSP00000207157:E119Q;ENSP00000358437:E225Q	ENSP00000207157:E119Q	E	-	1	0	TBX15	119268812	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAG	TBX15	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000092607		0.448	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	TBX15	HGNC	protein_coding	OTTHUMT00000034351.1	-	0	97	0	C	NM_152380		119467289	-1	tier1	-	no_errors	ENST00000207157	ensembl	human	known	74_37	missense	17.02	78	16	SNP	1.000	G	G	119467289	C	G	119467289	3	3	184	1	0	0	0	0	1	0	0	0	15699	835	29	5	1155	5	TBX15	1	119467289	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	6275211	119467289	129783332	37	45714											
HSD3B1	3283	genome.wustl.edu	37	chr1	120050130	120050130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgccttgtgacaggaGcaggagggtttctgggacag	8	8	18	7	0	1	1	0	1	1	0	1	5	1	5	1	5	3	3	1	5	0	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:120050130G>T	ENST00000369413.3	+	2	176	c.31G>T	c.(31-33)Gca>Tca	p.A11S	HSD3B1_ENST00000235547.6_Missense_Mutation_p.A13S|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A11S			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	11					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TGTGACAGGAGCAGGAGGGTT	0.547																																																	0													93	85	88					1																	120050130		2203	4300	6503	SO:0001583	missense	0			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.31G>T	1.37:g.120050130G>T	ENSP00000358421:p.Ala11Ser		A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	p.A13S	ENST00000369413.3	37	c.37	CCDS903.1	1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432375	0.62844	.	.	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	D;D;D;D	0.91180	-2.04;-2.8;-2.8;-2.8	2.91	2.91	0.33838	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.063936	0.64402	D	0.000007	D	0.89051	0.6605	M	0.80616	2.505	0.45205	D	0.998217	P;P	0.44195	0.828;0.825	P;B	0.47941	0.562;0.372	D	0.89565	0.3809	10	0.66056	D	0.02	-16.1014	9.0706	0.36491	0.0:0.0:1.0:0.0	.	13;11	Q5TDG2;P14060	.;3BHS1_HUMAN	S	11;11;13;11	ENSP00000435999:A11S;ENSP00000358421:A11S;ENSP00000235547:A13S;ENSP00000432268:A11S	ENSP00000235547:A13S	A	+	1	0	HSD3B1	119851653	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	5.024000	0.64090	1.447000	0.47661	0.313000	0.20887	GCA	HSD3B1	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	ENSG00000203857		0.547	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	HGNC	protein_coding	OTTHUMT00000034993.3		0	70	0	G	NM_000862		120050130	1			no_errors	ENST00000235547	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	120050130	G	T	120050130	3	4	184	1	0	0	0	0	1	0	0	0	7417	971	34	3	33	3	HSD3B1	1	120050130	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	582841	120050130	129200491	38	45715											
CHD1L	9557	genome.wustl.edu	37	chr1	146727518	146727518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaggcgacaaggaggaaaGagcctgccttcagcaagacc	13	4	13	11	1	1	2	1	0	0	2	1	5	1	4	3	3	4	2	3	3	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:146727518G>C	ENST00000369258.4	+	4	418	c.398G>C	c.(397-399)aGa>aCa	p.R133T	CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000431239.1_Missense_Mutation_p.R133T|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Intron	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	133	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)					AAGGAGGAAAGAGCCTGCCTT	0.423																																																	0													85	76	79					1																	146727518		2203	4300	6503	SO:0001583	missense	0			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.398G>C	1.37:g.146727518G>C	ENSP00000358262:p.Arg133Thr		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R133T	ENST00000369258.4	37	c.398	CCDS927.1	1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657420	0.67586	.	.	ENSG00000131778	ENST00000431239;ENST00000369258;ENST00000436230;ENST00000254086	D;D	0.94613	-3.47;-3.47	5.57	5.57	0.84162	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97052	0.9037	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.97297	0.9928	10	0.87932	D	0	.	15.4084	0.74900	0.0:0.0:1.0:0.0	.	133;133	Q86WJ1-2;Q86WJ1	.;CHD1L_HUMAN	T	133;133;33;94	ENSP00000389031:R133T;ENSP00000358262:R133T	ENSP00000254086:R94T	R	+	2	0	CHD1L	145194142	1.000000	0.71417	0.994000	0.49952	0.348000	0.29142	6.885000	0.75606	2.785000	0.95823	0.591000	0.81541	AGA	CHD1L	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000131778		0.423	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1L	HGNC	protein_coding	OTTHUMT00000040377.1	-	0	48	0	G	NM_004284		146727518	1	tier1	-	no_errors	ENST00000369258	ensembl	human	known	74_37	missense	24.00	38	12	SNP	1.000	C	C	146727518	G	C	146727518	3	2	184	1	0	0	0	0	1	0	0	0	3331	942	33	5	412	5	CHD1L	1	146727518	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	26677388	146727518	102523103	39	45716											
RPRD2	23248	genome.wustl.edu	37	chr1	150444823	150444823	+	Silent	SNP	A	A	G	1	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	ggttggtttgatctgagcacAtcaggtagctcttttgacaa	9	14	11	7	0	3	3	1	3	2	0	3	3	3	3	0	3	2	5	0	3	2	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:150444823A>G	ENST00000369068.4	+	11	3403	c.3399A>G	c.(3397-3399)acA>acG	p.T1133T	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Silent_p.T1107T	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1133						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						ATCTGAGCACATCAGGTAGCT	0.562																																																	0													53	57	56					1																	150444823		2009	4159	6168	SO:0001819	synonymous_variant	0			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.3399A>G	1.37:g.150444823A>G			A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom	p.T1133	ENST00000369068.4	37	c.3399	CCDS44216.1	1																																																																																			RPRD2	-	NULL	ENSG00000163125		0.562	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	-	0	39	0	A	NM_015203		150444823	1	tier1	-	no_errors	ENST00000369068	ensembl	human	known	74_37	silent	30.30	46	20	SNP	0.958	G	G	150444823	A	G	150444823	2	3	184	1	0	0	0	0	0	0	0	1	13662	204	8	4		4	RPRD2	1	150444823	Silent	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	3717305	150444823	98805798	40	45717											
ADAMTSL4	54507	genome.wustl.edu	37	chr1	150528034	150528034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacatctgtgtggctggacGctgtctggtgagggaagaca	8	10	16	7	1	2	3	0	2	2	1	2	5	2	5	0	4	0	2	0	4	1	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:150528034G>A	ENST00000369038.2	+	6	1565	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R455H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R455H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R478H			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	455					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)	p.R455H(1)		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)			GTGGCTGGACGCTGTCTGGTG	0.547																																																	1	Substitution - Missense(1)	ovary(1)											82	73	76					1																	150528034		2203	4300	6503	SO:0001583	missense	0			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.1364G>A	1.37:g.150528034G>A	ENSP00000358034:p.Arg455His		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.R478H	ENST00000369038.2	37	c.1433	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525224	0.44969	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.70164	0.04;0.04;-0.46;0.04	4.69	1.78	0.24846	.	.	.	.	.	T	0.36468	0.0968	L	0.48642	1.525	0.49798	D	0.999823	B;B;B;B	0.28667	0.171;0.069;0.14;0.219	B;B;B;B	0.21360	0.021;0.022;0.015;0.034	T	0.22730	-1.0208	9	0.51188	T	0.08	.	6.8714	0.24123	0.3773:0.0:0.6227:0.0	.	478;478;455;455	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	H	455;455;478;455	ENSP00000358037:R455H;ENSP00000271643:R455H;ENSP00000358035:R478H;ENSP00000358034:R455H	ENSP00000271643:R455H	R	+	2	0	ADAMTSL4	148794658	0.961000	0.32948	0.998000	0.56505	0.969000	0.65631	0.685000	0.25378	0.203000	0.20529	-0.258000	0.10820	CGC	ADAMTSL4	-	NULL	ENSG00000143382		0.547	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4		0	14	0	G	NM_019032		150528034	1			no_errors	ENST00000369039	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.993	A	A	150528034	G	A	150528034	3	1	184	1	0	0	0	0	1	0	0	0	277	1087	38	1	1386	1	ADAMTSL4	1	150528034	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	83211	150528034	98722587	41	45718											
POGZ	23126	genome.wustl.edu	37	chr1	151377628	151377628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccagctgaagcaggacatCagaatcacatgcagtatctg	14	7	9	11	0	3	2	2	1	1	1	3	3	3	3	1	1	3	4	1	1	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:151377628C>G	ENST00000271715.2	-	19	4197	c.3883G>C	c.(3883-3885)Gat>Cat	p.D1295H	POGZ_ENST00000540984.1_Missense_Mutation_p.D657H|POGZ_ENST00000361398.3_Missense_Mutation_p.D1242H|POGZ_ENST00000531094.1_Missense_Mutation_p.D1233H|POGZ_ENST00000491586.1_Missense_Mutation_p.D1251H|POGZ_ENST00000368863.2_Missense_Mutation_p.D1200H|POGZ_ENST00000409503.1_Missense_Mutation_p.D1286H|POGZ_ENST00000392723.1_Missense_Mutation_p.D1242H	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1295	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCAGGACATCAGAATCACAT	0.488																																																	0													176	171	173					1																	151377628		2203	4300	6503	SO:0001583	missense	0			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.3883G>C	1.37:g.151377628C>G	ENSP00000271715:p.Asp1295His		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.D1295H	ENST00000271715.2	37	c.3883	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624573	0.46840	.	.	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	6.17	4.27	0.50696	.	0.226102	0.37178	N	0.002214	T	0.24624	0.0597	L	0.29908	0.895	0.36414	D	0.863938	D;B;D;D;D;D	0.89917	1.0;0.0;1.0;1.0;1.0;1.0	D;B;D;D;D;D	0.87578	0.998;0.005;0.998;0.998;0.997;0.998	T	0.11641	-1.0579	10	0.87932	D	0	-2.4717	10.6768	0.45792	0.0:0.7957:0.1332:0.0711	.	1233;1286;1200;1251;1242;1295	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	H	1242;1295;1242;1200;1286;1233;657;1251	ENSP00000376484:D1242H;ENSP00000271715:D1295H;ENSP00000354467:D1242H;ENSP00000357856:D1200H;ENSP00000386836:D1286H;ENSP00000431259:D1233H;ENSP00000443547:D657H;ENSP00000418408:D1251H	ENSP00000271715:D1295H	D	-	1	0	POGZ	149644252	0.785000	0.28726	0.956000	0.39512	0.979000	0.70002	2.943000	0.49026	0.897000	0.36392	0.655000	0.94253	GAT	POGZ	-	NULL	ENSG00000143442		0.488	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	-	0	23	0	C	NM_207171		151377628	-1	tier1	-	no_errors	ENST00000271715	ensembl	human	known	74_37	missense	37.84	23	14	SNP	0.980	G	G	151377628	C	G	151377628	3	3	184	1	0	0	0	0	1	0	0	0	12225	826	29	5	353	5	POGZ	1	151377628	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	849594	151377628	97872993	42	45719											
TCHHL1	126637	genome.wustl.edu	37	chr1	152058803	152058803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttcagggtgagtctgatctCctccttctgagcttagatat	7	15	10	9	0	4	4	1	3	3	1	6	4	5	4	2	1	1	2	2	1	2	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:152058803C>T	ENST00000368806.1	-	3	1419	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	452							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)			AGTCTGATCTCCTCCTTCTGA	0.438																																																	0													237	222	227					1																	152058803		2203	4300	6503	SO:0001583	missense	0				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.1355G>A	1.37:g.152058803C>T	ENSP00000357796:p.Gly452Glu		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.G452E	ENST00000368806.1	37	c.1355	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	15.41	2.826764	0.50739	.	.	ENSG00000182898	ENST00000368806	T	0.30714	1.52	4.73	-2.51	0.06365	.	0.982201	0.08286	N	0.969232	T	0.05364	0.0142	L	0.52573	1.65	0.09310	N	1	B	0.18310	0.027	B	0.15870	0.014	T	0.33343	-0.9872	10	0.06236	T	0.91	0.0	0.9253	0.01324	0.2821:0.2677:0.2765:0.1737	.	452	Q5QJ38	TCHL1_HUMAN	E	452	ENSP00000357796:G452E	ENSP00000357796:G452E	G	-	2	0	TCHHL1	150325427	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	-0.068000	0.11561	-0.210000	0.10140	-0.315000	0.08773	GGA	TCHHL1	-	NULL	ENSG00000182898		0.438	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	-	0	47	0	C	XM_060104		152058803	-1	tier1	-	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	32.00	51	24	SNP	0.000	T	T	152058803	C	T	152058803	3	4	184	1	0	0	0	0	1	0	0	0	15748	855	30	3	1363	3	TCHHL1	1	152058803	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	681175	152058803	97191818	43	45720											
LCE3C	353144	genome.wustl.edu	37	chr1	152573397	152573397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaggcacttcaggtcccatCaatgccggcgccagagatcc	10	6	10	15	2	2	1	2	0	0	1	4	2	4	1	4	3	1	1	4	3	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:152573397C>G	ENST00000333881.3	+	1	260	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	64					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)		CAGGTCCCATCAATGCCGGCG	0.652																																																	0													50	47	48					1																	152573397		1811	2706	4517	SO:0001583	missense	0			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.190C>G	1.37:g.152573397C>G	ENSP00000334644:p.Gln64Glu		A1L420	Missense_Mutation	SNP	NULL	p.Q64E	ENST00000333881.3	37	c.190	CCDS1015.1	1	.	.	.	.	.	.	.	.	.	.	C	1.648	-0.514607	0.04200	.	.	ENSG00000244057	ENST00000333881	T	0.03441	3.93	4.01	-6.52	0.01872	.	.	.	.	.	T	0.00875	0.0029	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.50448	-0.8827	8	0.56958	D	0.05	.	7.2431	0.26107	0.5678:0.1834:0.2487:0.0	.	64	Q5T5A8	LCE3C_HUMAN	E	64	ENSP00000334644:Q64E	ENSP00000334644:Q64E	Q	+	1	0	LCE3C	150840021	0.000000	0.05858	0.164000	0.22755	0.066000	0.16364	-0.530000	0.06179	-0.846000	0.04174	0.313000	0.20887	CAA	LCE3C	-	NULL	ENSG00000244057		0.652	LCE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE3C	HGNC	protein_coding	OTTHUMT00000040061.2	-	0	30	0	C	NM_178434		152573397	1	tier1	-	no_errors	ENST00000333881	ensembl	human	known	74_37	missense	64.44	16	29	SNP	0.013	G	G	152573397	C	G	152573397	3	3	184	1	0	0	0	0	1	0	0	0	8699	827	29	5	192	5	LCE3C	1	152573397	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	514594	152573397	96677224	44	45721											
SPRR2E	6704	genome.wustl.edu	37	chr1	153066153	153066153	+	Silent	SNP	C	C	T	0	0	0	1	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	cacttcgggggtggacatggCtctgggcactttggcgtggg	4	10	18	9	2	1	0	0	0	1	0	2	1	1	1	0	7	0	2	0	7	0	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:153066153C>T	ENST00000368751.1	-	2	149	c.75G>A	c.(73-75)gaG>gaA	p.E25E	SPRR2E_ENST00000368750.3_Silent_p.E25E|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	25	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	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)			GTGGACATGGCTCTGGGCACT	0.597																																																	0													83	86	85					1																	153066153		2202	4277	6479	SO:0001819	synonymous_variant	0			AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.75G>A	1.37:g.153066153C>T			Q5T9T4|Q96RM2	Silent	SNP	NULL	p.E25	ENST00000368751.1	37	c.75	CCDS30866.1	1																																																																																			SPRR2E	-	NULL	ENSG00000203785		0.597	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR2E	HGNC	protein_coding	OTTHUMT00000040054.1	-	0	64	0	C			153066153	-1	tier1	-	no_errors	ENST00000368750	ensembl	human	known	74_37	silent	18.63	83	19	SNP	0.349	T	T	153066153	C	T	153066153	2	4	184	1	0	0	0	0	0	0	0	1	15147	796	28	3		3	SPRR2E	1	153066153	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	492756	153066153	96184468	45	45722											
ZBTB7B	51043	genome.wustl.edu	37	chr1	154987266	154987266	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatccggacgcagggccttGaataccgcacccacagggct	9	5	11	16	3	0	1	0	1	0	0	1	2	1	2	5	3	1	3	5	3	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:154987266G>C	ENST00000368426.3	+	3	267	c.130G>C	c.(130-132)Gaa>Caa	p.E44Q	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E44Q|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E44Q|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E78Q|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	44	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)			GCAGGGCCTTGAATACCGCAC	0.617																																																	0													67	70	69					1																	154987266		2203	4300	6503	SO:0001583	missense	0			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.130G>C	1.37:g.154987266G>C	ENSP00000357411:p.Glu44Gln		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E78Q	ENST00000368426.3	37	c.232	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336404	0.41398	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	3.59	3.59	0.41128	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.271361	0.30235	N	0.010089	T	0.50326	0.1609	L	0.61036	1.89	0.09310	N	0.999999	P;P;P	0.42735	0.788;0.788;0.788	B;B;B	0.41440	0.357;0.357;0.357	T	0.46148	-0.9212	10	0.46703	T	0.11	.	12.7145	0.57107	0.0:0.0:1.0:0.0	.	44;44;78	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	Q	44;44;78;44	ENSP00000438647:E44Q;ENSP00000357411:E44Q;ENSP00000406286:E78Q;ENSP00000292176:E44Q	ENSP00000292176:E44Q	E	+	1	0	ZBTB7B	153253890	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	6.656000	0.74396	1.827000	0.53221	0.462000	0.41574	GAA	ZBTB7B	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000160685		0.617	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	-	0	52	0	G	NM_015872		154987266	1	tier1	-	no_errors	ENST00000417934	ensembl	human	known	74_37	missense	22.58	24	7	SNP	0.247	C	C	154987266	G	C	154987266	3	2	184	1	0	0	0	0	1	0	0	0	17602	1291	45	5	132	5	ZBTB7B	1	154987266	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1921113	154987266	94263355	46	45723											
SCAMP3	10067	genome.wustl.edu	37	chr1	155228738	155228738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagggggccaattgttCtgtcgagctgtaaggcacaa	10	9	15	7	1	1	1	0	0	1	1	2	2	1	1	1	4	1	5	1	4	4	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:155228738C>A	ENST00000302631.3	-	5	503	c.396G>T	c.(394-396)caG>caT	p.Q132H	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000355379.3_Missense_Mutation_p.Q106H	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	132					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCAATTGTTCTGTCGAGCTG	0.483																																																	0													100	104	103					1																	155228738		2203	4300	6503	SO:0001583	missense	0			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"Secretory carrier membrane proteins"	10565	protein-coding gene	gene with protein product	"Propin 1"	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.396G>T	1.37:g.155228738C>A	ENSP00000307275:p.Gln132His		A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	pfam_SCAMP	p.Q132H	ENST00000302631.3	37	c.396	CCDS1105.1	1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.184899	0.78677	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.18338	2.22;2.22	4.83	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	M	0.63843	1.955	0.45118	D	0.998134	D;D	0.61080	0.975;0.989	P;D	0.63113	0.854;0.911	T	0.01149	-1.1436	9	.	.	.	-19.4769	9.5236	0.39152	0.0:0.8213:0.0:0.1787	.	106;132	O14828-2;O14828	.;SCAM3_HUMAN	H	132;106	ENSP00000307275:Q132H;ENSP00000347540:Q106H	.	Q	-	3	2	SCAMP3	153495362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.886000	0.39688	1.265000	0.44215	0.655000	0.94253	CAG	SCAMP3	-	pfam_SCAMP	ENSG00000116521		0.483	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP3	HGNC	protein_coding	OTTHUMT00000087399.1	-	0	131	0	C	NM_005698		155228738	-1	tier1	-	no_errors	ENST00000302631	ensembl	human	known	74_37	missense	14.78	98	17	SNP	1.000	A	A	155228738	C	A	155228738	3	1	184	1	0	0	0	0	1	0	0	0	13917	912	32	3	667	3	SCAMP3	1	155228738	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	241472	155228738	94021883	47	45724											
PRRX1	5396	genome.wustl.edu	37	chr1	170688965	170688965	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctttggagcgtgtctttGagcggacacactatcctgat	8	12	12	9	2	1	2	0	2	1	0	2	4	2	4	1	3	2	1	1	3	1	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:170688965G>C	ENST00000239461.6	+	2	653	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	PRRX1_ENST00000367760.3_Missense_Mutation_p.E114Q|PRRX1_ENST00000497230.2_Missense_Mutation_p.E114Q	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	114					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCGTGTCTTTGAGCGGACACA	0.522																																																	0													118	105	109					1																	170688965		2203	4300	6503	SO:0001583	missense	0			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.340G>C	1.37:g.170688965G>C	ENSP00000239461:p.Glu114Gln		B5BUM7|O60807	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.E114Q	ENST00000239461.6	37	c.340	CCDS1290.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129556	0.77549	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	N	0.03294	-0.36	0.80722	D	1	D;B	0.58268	0.982;0.376	P;B	0.54629	0.757;0.058	D	0.94214	0.7461	10	0.87932	D	0	.	17.5667	0.87922	0.0:0.0:1.0:0.0	.	114;114	P54821;P54821-2	PRRX1_HUMAN;.	Q	67;114;114;114	ENSP00000451943:E67Q;ENSP00000356734:E114Q;ENSP00000239461:E114Q;ENSP00000450762:E114Q	ENSP00000239461:E114Q	E	+	1	0	PRRX1	168955589	1.000000	0.71417	0.994000	0.49952	0.938000	0.57974	4.679000	0.61649	2.463000	0.83235	0.655000	0.94253	GAG	PRRX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000116132		0.522	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	-	0	32	0	G	NM_006902		170688965	1	tier1	-	no_errors	ENST00000239461	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	C	C	170688965	G	C	170688965	3	2	184	1	0	0	0	0	1	0	0	0	12654	1291	45	5	346	5	PRRX1	1	170688965	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	15460227	170688965	78561656	48	45725											
ZBTB37	84614	genome.wustl.edu	37	chr1	173854791	173854791	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtagaagagtcagcaatGatgggagtaagtggctatgt	13	9	15	4	0	1	3	1	1	0	2	1	4	1	4	0	3	1	4	0	3	5	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:173854791G>C	ENST00000367701.5	+	4	1232	c.1041G>C	c.(1039-1041)atG>atC	p.M347I	ZBTB37_ENST00000427304.1_Missense_Mutation_p.M347I|ZBTB37_ENST00000367704.1_3'UTR			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						AGTCAGCAATGATGGGAGTAA	0.403																																																	0													88	76	80					1																	173854791		692	1591	2283	SO:0001583	missense	0			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.1041G>C	1.37:g.173854791G>C	ENSP00000356674:p.Met347Ile		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M347I	ENST00000367701.5	37	c.1041	CCDS44278.1	1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125231	0.20959	.	.	ENSG00000185278	ENST00000427304;ENST00000367703;ENST00000367701	T;T	0.12774	2.65;2.65	5.76	5.76	0.90799	.	0.407861	0.32503	N	0.006012	T	0.05868	0.0153	L	0.43152	1.355	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16778	-1.0391	10	0.30078	T	0.28	.	11.287	0.49228	0.0:0.1365:0.722:0.1415	.	347	Q5TC79	ZBT37_HUMAN	I	347;255;347	ENSP00000415293:M347I;ENSP00000356674:M347I	ENSP00000356674:M347I	M	+	3	0	ZBTB37	172121414	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.239000	0.58694	2.706000	0.92434	0.655000	0.94253	ATG	ZBTB37	-	NULL	ENSG00000185278		0.403	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	-	0	66	0	G	NM_032522		173854791	1	tier1	-	no_errors	ENST00000367701	ensembl	human	known	74_37	missense	26.32	70	25	SNP	1.000	C	C	173854791	G	C	173854791	3	2	184	1	0	0	0	0	1	0	0	0	17586	1290	45	5	1114	5	ZBTB37	1	173854791	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3165826	173854791	75395830	49	45726											
ASTN1	460	genome.wustl.edu	37	chr1	177000021	177000021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctggtggttggagtcCacagggctagtggctataat	7	12	15	7	0	0	0	0	0	0	0	1	1	1	1	1	5	1	5	1	5	3	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:177000021C>T	ENST00000367654.3	-	4	1144	c.933G>A	c.(931-933)gtG>gtA	p.V311V	ASTN1_ENST00000361833.2_Silent_p.V311V|ASTN1_ENST00000281881.3_5'UTR|MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000367657.3_Silent_p.V311V|ASTN1_ENST00000424564.2_Silent_p.V311V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	311					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						GGTTGGAGTCCACAGGGCTAG	0.448																																																	0													173	166	169					1																	177000021		2203	4300	6503	SO:0001819	synonymous_variant	0			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.933G>A	1.37:g.177000021C>T			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.V311	ENST00000367654.3	37	c.933		1																																																																																			ASTN1	-	NULL	ENSG00000152092		0.448	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0	52	0	C	NM_004319		177000021	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	silent	23.21	43	13	SNP	1.000	T	T	177000021	C	T	177000021	2	4	184	1	0	0	0	0	0	0	0	1	1065	581	21	3		3	ASTN1	1	177000021	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3145230	177000021	72250600	50	45727											
DHX9	1660	genome.wustl.edu	37	chr1	182829167	182829167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgcctgtgaagaaatttGaaagtgagattctggaagca	14	11	11	5	0	1	4	0	3	1	2	1	6	1	5	1	1	3	1	1	1	5	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:182829167G>A	ENST00000367549.3	+	12	1290	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	394					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						GAAGAAATTTGAAAGTGAGAT	0.413																																					Colon(69;210 1162 3697 13559 39565)												0													136	129	131					1																	182829167		1853	4090	5943	SO:0001583	missense	0			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.1180G>A	1.37:g.182829167G>A	ENSP00000356520:p.Glu394Lys		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom	p.E394K	ENST00000367549.3	37	c.1180	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885563	0.51908	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.15017	2.46	5.84	5.84	0.93424	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.05547	0.0146	N	0.00301	-1.68	0.53005	D	0.999961	B	0.12013	0.005	B	0.08055	0.003	T	0.47381	-0.9122	10	0.13853	T	0.58	.	19.7483	0.96259	0.0:0.0:1.0:0.0	.	394	Q08211	DHX9_HUMAN	K	394	ENSP00000356520:E394K	ENSP00000356520:E394K	E	+	1	0	DHX9	181095790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.031000	0.76491	2.779000	0.95612	0.655000	0.94253	GAA	DHX9	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd	ENSG00000135829		0.413	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	-	0	75	0	G	NM_030588		182829167	1	tier1	-	no_errors	ENST00000367549	ensembl	human	known	74_37	missense	29.07	61	25	SNP	1.000	A	A	182829167	G	A	182829167	3	1	184	1	0	0	0	0	1	0	0	0	4530	1291	45	3	1222	3	DHX9	1	182829167	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	5829146	182829167	66421454	51	45728											
LAMC1	3915	genome.wustl.edu	37	chr1	183093999	183093999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctggctcccaatccagcaGacaaatgcaaaggtaatcag	14	6	8	13	0	1	1	1	0	0	1	3	1	3	1	3	2	2	4	3	2	4	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:183093999G>C	ENST00000258341.4	+	14	2892	c.2635G>C	c.(2635-2637)Gac>Cac	p.D879H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	879	Laminin EGF-like 8. {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						CAATCCAGCAGACAAATGCAA	0.428																																																	0													60	59	59					1																	183093999		2203	4300	6503	SO:0001583	missense	0			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.2635G>C	1.37:g.183093999G>C	ENSP00000258341:p.Asp879His		Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.D879H	ENST00000258341.4	37	c.2635	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658095	0.67586	.	.	ENSG00000135862	ENST00000258341	T	0.61742	0.08	5.51	4.59	0.56863	EGF-like, laminin (4);	0.296252	0.41097	D	0.000960	T	0.74512	0.3726	M	0.92317	3.295	0.53688	D	0.999971	D	0.63046	0.992	P	0.54815	0.761	T	0.78833	-0.2048	10	0.48119	T	0.1	.	11.0016	0.47609	0.0:0.1403:0.714:0.1457	.	879	P11047	LAMC1_HUMAN	H	879	ENSP00000258341:D879H	ENSP00000258341:D879H	D	+	1	0	LAMC1	181360622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.479000	0.53165	1.293000	0.44690	0.650000	0.86243	GAC	LAMC1	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	ENSG00000135862		0.428	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	-	0	28	0	G	NM_002293		183093999	1	tier1	-	no_errors	ENST00000258341	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	C	C	183093999	G	C	183093999	3	2	184	1	0	0	0	0	1	0	0	0	8642	942	33	5	2689	5	LAMC1	1	183093999	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	264832	183093999	66156622	52	45729											
PRG4	10216	genome.wustl.edu	37	chr1	186275881	186275881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacaaccaaaggccctgctCtcaccactcccaaggagccc	11	5	6	19	0	1	0	1	0	1	0	3	1	2	1	5	2	4	1	5	2	4	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:186275881C>G	ENST00000445192.2	+	7	1075	c.1030C>G	c.(1030-1032)Ctc>Gtc	p.L344V	PRG4_ENST00000367486.3_Missense_Mutation_p.L301V|PRG4_ENST00000367484.3_Missense_Mutation_p.L303V|PRG4_ENST00000367483.4_Missense_Mutation_p.L303V|PRG4_ENST00000367485.4_Missense_Mutation_p.L251V	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	344					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						AGGCCCTGCTCTCACCACTCC	0.517																																																	0													143	151	148					1																	186275881		2203	4300	6503	SO:0001583	missense	0			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.1030C>G	1.37:g.186275881C>G	ENSP00000399679:p.Leu344Val		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.L344V	ENST00000445192.2	37	c.1030	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	-	6.851	0.526234	0.13066	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05717	3.4;3.68;3.51;3.4;3.51	3.27	2.23	0.28157	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;B;B;B	0.27732	0.187;0.187;0.118;0.187	B;B;B;B	0.26770	0.073;0.073;0.033;0.073	T	0.45411	-0.9263	8	.	.	.	1.846	7.2582	0.26189	0.1849:0.6336:0.1815:0.0	.	210;251;344;303	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	V	301;303;210;303;251;344	ENSP00000356456:L301V;ENSP00000356454:L303V;ENSP00000356453:L303V;ENSP00000356455:L251V;ENSP00000399679:L344V	.	L	+	1	0	PRG4	184542504	0.002000	0.14202	0.004000	0.12327	0.081000	0.17604	1.398000	0.34554	1.582000	0.49881	0.434000	0.28630	CTC	PRG4	-	NULL	ENSG00000116690		0.517	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	-	0	102	0	C	NM_005807		186275881	1	tier1	-	no_errors	ENST00000445192	ensembl	human	known	74_37	missense	16.91	113	23	SNP	0.003	G	G	186275881	C	G	186275881	3	3	184	1	0	0	0	0	1	0	0	0	12523	913	32	5	1052	5	PRG4	1	186275881	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3181882	186275881	62974740	53	45730											
ZNF281	23528	genome.wustl.edu	37	chr1	200376438	200376438	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatctgaaagcctgttgaaGactctaagtttttctgttcc	10	15	8	8	0	3	3	0	2	3	1	4	4	4	3	2	0	1	3	2	0	4	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:200376438G>C	ENST00000294740.3	-	2	2520	c.2396C>G	c.(2395-2397)tCt>tGt	p.S799C	ZNF281_ENST00000367353.1_Missense_Mutation_p.S799C|ZNF281_ENST00000367352.3_Missense_Mutation_p.S763C	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	799					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						GCCTGTTGAAGACTCTAAGTT	0.413																																																	0													87	91	90					1																	200376438		2203	4300	6503	SO:0001583	missense	0			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.2396C>G	1.37:g.200376438G>C	ENSP00000294740:p.Ser799Cys		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S799C	ENST00000294740.3	37	c.2396	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077415	0.36662	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.10668	2.86;2.86;2.85	5.6	5.6	0.85130	.	0.300826	0.37261	N	0.002164	T	0.12902	0.0313	N	0.24115	0.695	0.47153	D	0.999333	B;B	0.22480	0.07;0.07	B;B	0.33196	0.159;0.159	T	0.14448	-1.0472	10	0.87932	D	0	-6.1219	19.6035	0.95573	0.0:0.0:1.0:0.0	.	763;799	A6NF48;Q9Y2X9	.;ZN281_HUMAN	C	799;799;763;504	ENSP00000294740:S799C;ENSP00000356322:S799C;ENSP00000356321:S763C	ENSP00000294740:S799C	S	-	2	0	ZNF281	198643061	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	6.768000	0.74980	2.626000	0.88956	0.655000	0.94253	TCT	ZNF281	-	NULL	ENSG00000162702		0.413	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	-	0	33	0	G	NM_012482		200376438	-1	tier1	-	no_errors	ENST00000294740	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	C	C	200376438	G	C	200376438	3	2	184	1	0	0	0	0	1	0	0	0	17866	942	33	5	295	5	ZNF281	1	200376438	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	14100557	200376438	48874183	54	45731											
NUAK2	81788	genome.wustl.edu	37	chr1	205290713	205290713	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccgggctagctctgcggccGagggagtggggccggagcgc	4	4	21	12	5	1	0	0	0	1	0	1	3	1	2	3	6	3	2	3	6	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:205290713G>C	ENST00000367157.3	-	1	170	c.44C>G	c.(43-45)tCg>tGg	p.S15W		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)			CTCTGCGGCCGAGGGAGTGGG	0.677																																																	0													20	25	23					1																	205290713		2202	4299	6501	SO:0001583	missense	0			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.44C>G	1.37:g.205290713G>C	ENSP00000356125:p.Ser15Trp			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S15W	ENST00000367157.3	37	c.44	CCDS1453.1	1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446610	0.63178	.	.	ENSG00000163545	ENST00000367157	T	0.73152	-0.72	4.68	3.76	0.43208	.	0.730137	0.11212	N	0.587637	T	0.63604	0.2525	L	0.27053	0.805	0.09310	N	0.999991	D	0.57899	0.981	P	0.48627	0.584	T	0.54139	-0.8338	10	0.87932	D	0	.	8.4669	0.32962	0.1051:0.0:0.8949:0.0	.	15	Q9H093	NUAK2_HUMAN	W	15	ENSP00000356125:S15W	ENSP00000356125:S15W	S	-	2	0	NUAK2	203557336	0.255000	0.24002	0.617000	0.29091	0.224000	0.24922	1.438000	0.35002	1.197000	0.43143	0.561000	0.74099	TCG	NUAK2	-	NULL	ENSG00000163545		0.677	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1		0	9	0	G	NM_030952		205290713	-1			no_errors	ENST00000367157	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.113	C	C	205290713	G	C	205290713	3	2	184	1	0	0	0	0	1	0	0	0	10752	1059	37	5	1870	5	NUAK2	1	205290713	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	4914275	205290713	43959908	55	45732											
PLXNA2	5362	genome.wustl.edu	37	chr1	208213028	208213028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcagggagtagcgggcctCgcccgtgatggcatcaatgg	7	7	16	11	3	2	1	2	1	0	0	3	2	2	2	2	4	1	3	2	4	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:208213028C>T	ENST00000367033.3	-	24	5195	c.4438G>A	c.(4438-4440)Gag>Aag	p.E1480K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1480					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)		TAGCGGGCCTCGCCCGTGATG	0.612																																																	0													88	84	86					1																	208213028		2203	4300	6503	SO:0001583	missense	0			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.4438G>A	1.37:g.208213028C>T	ENSP00000356000:p.Glu1480Lys		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.E1480K	ENST00000367033.3	37	c.4438	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.278447	0.95459	.	.	ENSG00000076356	ENST00000367033	T	0.10668	2.85	5.51	5.51	0.81932	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	L	0.37507	1.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00500	-1.1703	10	0.41790	T	0.15	.	19.4545	0.94882	0.0:1.0:0.0:0.0	.	1480	O75051	PLXA2_HUMAN	K	1480	ENSP00000356000:E1480K	ENSP00000356000:E1480K	E	-	1	0	PLXNA2	206279651	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.825000	0.69286	2.590000	0.87494	0.650000	0.86243	GAG	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000076356		0.612	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6		0	43	0	C	NM_025179		208213028	-1			no_errors	ENST00000367033	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	T	T	208213028	C	T	208213028	3	4	184	1	0	0	0	0	1	0	0	0	12159	893	31	1	1282	1	PLXNA2	1	208213028	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2922315	208213028	41037593	56	45733											
CENPF	1063	genome.wustl.edu	37	chr1	214814749	214814749	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtacaagcaagaaaaacTtattttactacaaagatgtg	18	11	6	6	0	1	2	1	0	0	2	1	2	1	2	0	0	5	2	0	0	9	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:214814749T>G	ENST00000366955.3	+	12	3236	c.3068T>G	c.(3067-3069)cTt>cGt	p.L1023R		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)		CAAGAAAAACTTATTTTACTA	0.323																																					Colon(80;575 1284 11000 14801 43496)												0													55	61	59					1																	214814749		2173	4289	6462	SO:0001583	missense	0			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.3068T>G	1.37:g.214814749T>G	ENSP00000355922:p.Leu1023Arg		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.L1023R	ENST00000366955.3	37	c.3068	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384260	0.25031	.	.	ENSG00000117724	ENST00000366955	T	0.03553	3.89	4.86	4.86	0.63082	.	0.000000	0.34386	N	0.004020	T	0.06325	0.0163	.	.	.	0.23107	N	0.998281	D	0.64830	0.994	P	0.57911	0.829	T	0.33292	-0.9874	9	0.11182	T	0.66	.	9.3853	0.38338	0.2668:0.0:0.0:0.7332	.	1023	P49454	CENPF_HUMAN	R	1023	ENSP00000355922:L1023R	ENSP00000355922:L1023R	L	+	2	0	CENPF	212881372	0.008000	0.16893	0.473000	0.27253	0.607000	0.37147	1.537000	0.36083	1.947000	0.56498	0.496000	0.49642	CTT	CENPF	-	NULL	ENSG00000117724		0.323	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	-	0	47	0	T	NM_016343		214814749	1	tier1	-	no_errors	ENST00000366955	ensembl	human	known	74_37	missense	13.43	58	9	SNP	0.429	G	G	214814749	T	G	214814749	3	3	184	1	0	0	0	0	1	0	0	0	3238	1609	56	4	3110	4	CENPF	1	214814749	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	6601721	214814749	34435872	57	45734											
USH2A	7399	genome.wustl.edu	37	chr1	215931947	215931947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttttttttacctggtggtatCcaagctacaaatatagaata	13	16	6	6	0	0	1	0	0	0	1	1	1	1	1	2	2	3	2	2	2	9	9			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:215931947C>G	ENST00000307340.3	-	58	11765	c.11379G>C	c.(11377-11379)tgG>tgC	p.W3793C	USH2A_ENST00000366943.2_Missense_Mutation_p.W3793C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3793	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)		CTGGTGGTATCCAAGCTACAA	0.299										HNSCC(13;0.011)																																							0													138	140	139					1																	215931947		2203	4300	6503	SO:0001583	missense	0			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.11379G>C	1.37:g.215931947C>G	ENSP00000305941:p.Trp3793Cys		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.W3793C	ENST00000307340.3	37	c.11379	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424432	0.62733	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.86297	-2.1;-2.1	5.9	5.9	0.94986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41712	D	0.000829	D	0.93949	0.8063	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93820	0.7118	10	0.87932	D	0	.	20.3398	0.98759	0.0:1.0:0.0:0.0	.	3793	O75445	USH2A_HUMAN	C	3793	ENSP00000305941:W3793C;ENSP00000355910:W3793C	ENSP00000305941:W3793C	W	-	3	0	USH2A	213998570	1.000000	0.71417	0.971000	0.41717	0.560000	0.35617	6.473000	0.73572	2.803000	0.96430	0.586000	0.80456	TGG	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.299	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	55	0	C	NM_007123		215931947	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.999	G	G	215931947	C	G	215931947	3	3	184	1	0	0	0	0	1	0	0	0	17085	856	30	5	4289	5	USH2A	1	215931947	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1117198	215931947	33318674	58	45735											
HHIPL2	79802	genome.wustl.edu	37	chr1	222713363	222713363	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttacttacccaaagaggcaTtgtgacaaagttttttgtca	12	14	7	8	0	1	2	1	1	0	1	1	2	1	2	1	1	2	2	1	1	4	6	rs140791930		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:222713363T>C	ENST00000343410.6	-	4	1497	c.1439A>G	c.(1438-1440)aAt>aGt	p.N480S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	480					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)		CAAAGAGGCATTGTGACAAAG	0.453																																																	0								T	SER/ASN	4,4402	8.1+/-20.4	0,4,2199	73	75	74		1439	4.4	0.6	1	dbSNP_134	74	0,8600		0,0,4300	no	missense	HHIPL2	NM_024746.3	46	0,4,6499	CC,CT,TT		0.0,0.0908,0.0308	possibly-damaging	480/725	222713363	4,13002	2203	4300	6503	SO:0001583	missense	0			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.1439A>G	1.37:g.222713363T>C	ENSP00000342118:p.Asn480Ser		Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.N480S	ENST00000343410.6	37	c.1439	CCDS1530.2	1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.627644	0.46944	9.08E-4	0.0	ENSG00000143512	ENST00000343410	T	0.12361	2.69	5.48	4.36	0.52297	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Glucose/Sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.141892	0.64402	N	0.000013	T	0.13457	0.0326	L	0.41415	1.275	0.41730	D	0.989556	B	0.15141	0.012	B	0.29524	0.103	T	0.06935	-1.0799	10	0.30078	T	0.28	-10.2545	10.9456	0.47299	0.0:0.0742:0.0:0.9258	.	480	Q6UWX4	HIPL2_HUMAN	S	480	ENSP00000342118:N480S	ENSP00000342118:N480S	N	-	2	0	HHIPL2	220779986	1.000000	0.71417	0.626000	0.29213	0.988000	0.76386	5.833000	0.69349	0.921000	0.36994	-0.333000	0.08304	AAT	HHIPL2	-	pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH	ENSG00000143512		0.453	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	-	0	28	0	T	NM_024746		222713363	-1	tier1	rs140791930	no_errors	ENST00000343410	ensembl	human	known	74_37	missense	25.58	32	11	SNP	1.000	C	C	222713363	T	C	222713363	3	2	184	1	0	0	0	0	1	0	0	0	7121	1493	52	4	759	4	HHIPL2	1	222713363	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	6781416	222713363	26537258	59	45736											
HHIPL2	79802	genome.wustl.edu	37	chr1	222717196	222717196	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatggaccatggagacGgggttcctcagcccgttggc	7	7	14	13	2	1	1	1	0	0	1	2	3	2	2	4	5	2	3	4	5	0	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:222717196G>T	ENST00000343410.6	-	2	715	c.657C>A	c.(655-657)ccC>ccA	p.P219P		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	219					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)		CCATGGAGACGGGGTTCCTCA	0.637																																																	0													62	57	59					1																	222717196		2203	4300	6503	SO:0001819	synonymous_variant	0			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.657C>A	1.37:g.222717196G>T			Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.P219	ENST00000343410.6	37	c.657	CCDS1530.2	1																																																																																			HHIPL2	-	superfamily_Quinoprot_gluc/sorb_DH	ENSG00000143512		0.637	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2		0	38	0	G	NM_024746		222717196	-1			no_errors	ENST00000343410	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.007	T	T	222717196	G	T	222717196	2	4	184	1	0	0	0	0	0	0	0	1	7121	1103	39	2		2	HHIPL2	1	222717196	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3833	222717196	26533425	60	45737											
CHML	1122	genome.wustl.edu	37	chr1	241798135	241798135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgaaagcttggtattcatCaggatgttgttcatactcta	10	15	8	8	0	4	1	3	1	1	0	4	2	4	2	1	2	2	4	1	2	4	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:241798135C>G	ENST00000366553.1	-	1	1097	c.934G>C	c.(934-936)Gat>Cat	p.D312H	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	312					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGGTATTCATCAGGATGTTGT	0.348																																																	0													97	97	97					1																	241798135		2203	4299	6502	SO:0001583	missense	0			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.934G>C	1.37:g.241798135C>G	ENSP00000355511:p.Asp312His		B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.D312H	ENST00000366553.1	37	c.934	CCDS31073.1	1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.510779	0.44660	.	.	ENSG00000203668	ENST00000366553	D	0.86030	-2.06	4.96	4.05	0.47172	.	1.245710	0.05436	U	0.546919	D	0.89729	0.6799	.	.	.	0.41298	D	0.987024	P	0.39520	0.676	P	0.51079	0.658	T	0.80450	-0.1377	9	0.66056	D	0.02	-0.6382	11.5362	0.50639	0.0:0.9128:0.0:0.0872	.	312	P26374	RAE2_HUMAN	H	312	ENSP00000355511:D312H	ENSP00000355511:D312H	D	-	1	0	CHML	239864758	1.000000	0.71417	0.980000	0.43619	0.465000	0.32709	3.089000	0.50183	1.468000	0.48064	0.655000	0.94253	GAT	CHML	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort	ENSG00000203668		0.348	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHML	HGNC	protein_coding	OTTHUMT00000095712.1	-	0	48	0	C	NM_001821		241798135	-1	tier1	-	no_errors	ENST00000366553	ensembl	human	known	74_37	missense	27.14	51	19	SNP	0.988	G	G	241798135	C	G	241798135	3	3	184	1	0	0	0	0	1	0	0	0	3358	826	29	5	1040	5	CHML	1	241798135	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	19080939	241798135	7452486	61	45738											
WDR64	128025	genome.wustl.edu	37	chr1	241951283	241951283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagaaataaaagaagaaagCaagttcacagagaagcaaaa	25	4	8	4	0	1	4	1	0	0	4	1	5	1	4	0	0	2	3	0	0	10	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:241951283C>A	ENST00000366552.2	+	23	3015	c.2808C>A	c.(2806-2808)agC>agA	p.S936R	WDR64_ENST00000437684.2_Missense_Mutation_p.S769R	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	936										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AAGAAGAAAGCAAGTTCACAG	0.343																																																	0													88	88	88					1																	241951283		2203	4300	6503	SO:0001583	missense	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2808C>A	1.37:g.241951283C>A	ENSP00000355510:p.Ser936Arg		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S936R	ENST00000366552.2	37	c.2808		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.44|13.44	2.236888|2.236888	0.39498|0.39498	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000425826|ENST00000366552;ENST00000437684;ENST00000414635	.|T;T;T	.|0.43688	.|0.94;0.94;0.94	5.96|5.96	4.02|4.02	0.46733|0.46733	.|.	.|0.166873	.|0.42964	.|D	.|0.000630	T|T	0.39226|0.39226	0.1070|0.1070	L|L	0.54323|0.54323	1.7|1.7	0.24589|0.24589	N|N	0.993834|0.993834	.|P;D	.|0.54601	.|0.907;0.967	.|P;B	.|0.45377	.|0.478;0.439	T|T	0.27468|0.27468	-1.0073|-1.0073	5|10	.|0.37606	.|T	.|0.19	-9.5534|-9.5534	9.0897|9.0897	0.36603|0.36603	0.0:0.8173:0.0:0.1827|0.0:0.8173:0.0:0.1827	.|.	.|936;489	.|B1ANS9;D1MPS4	.|WDR64_HUMAN;.	E|R	415|936;769;540	.|ENSP00000355510:S936R;ENSP00000402446:S769R;ENSP00000406656:S540R	.|ENSP00000355510:S936R	A|S	+|+	2|3	0|2	WDR64|WDR64	240017906|240017906	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.668000|0.668000	0.25127|0.25127	1.440000|1.440000	0.47531|0.47531	0.643000|0.643000	0.83706|0.83706	GCA|AGC	WDR64	-	NULL	ENSG00000162843		0.343	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		-	0	81	0	C	NM_144625		241951283	1	tier1	-	no_errors	ENST00000366552	ensembl	human	known	74_37	missense	25.76	49	17	SNP	1.000	A	A	241951283	C	A	241951283	3	1	184	1	0	0	0	0	1	0	0	0	17364	709	25	3	2898	3	WDR64	1	241951283	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	153148	241951283	7299338	62	45739											
AHCTF1	25909	genome.wustl.edu	37	chr1	247076622	247076622	+	Silent	SNP	T	T	C	0	1	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	ccaacatcagtgaccacagcTgccactccaaaaagccatcg	14	5	6	16	1	1	1	1	1	0	0	3	1	2	1	5	0	4	1	5	0	3	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:247076622T>C	ENST00000391829.2	-	4	591	c.468A>G	c.(466-468)gcA>gcG	p.A156A	AHCTF1_ENST00000366508.1_Silent_p.A191A|AHCTF1_ENST00000326225.3_Silent_p.A165A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	156	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)			TGACCACAGCTGCCACTCCAA	0.418																																					Colon(145;197 1800 4745 15099 26333)												0													68	70	70					1																	247076622		2203	4300	6503	SO:0001819	synonymous_variant	0				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.468A>G	1.37:g.247076622T>C			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.A165	ENST00000391829.2	37	c.495		1																																																																																			AHCTF1	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000153207		0.418	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		-	0	61	0	T	NM_015446		247076622	-1	tier1	-	no_errors	ENST00000326225	ensembl	human	known	74_37	silent	34.88	56	30	SNP	0.997	C	C	247076622	T	C	247076622	2	2	184	1	0	0	0	0	0	0	0	1	408	1567	55	4		4	AHCTF1	1	247076622	Silent	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	5125339	247076622	2173999	63	45740											
OR1C1	26188	genome.wustl.edu	37	chr1	247920874	247920874	+	Missense_Mutation	SNP	A	A	T	1	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	cagcatcggagccaccattgAatacatgatggttgacagag	13	8	11	9	1	0	4	0	3	0	1	1	5	0	5	2	2	3	2	2	2	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:247920874A>T	ENST00000408896.2	-	1	1108	c.835T>A	c.(835-837)Tca>Aca	p.S279T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	279					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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCCACCATTGAATACATGATG	0.483																																																	0													107	101	103					1																	247920874		1983	4181	6164	SO:0001583	missense	0			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.835T>A	1.37:g.247920874A>T	ENSP00000386138:p.Ser279Thr		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S279T	ENST00000408896.2	37	c.835	CCDS41481.1	1	.	.	.	.	.	.	.	.	.	.	A	0	-2.723466	0.00092	.	.	ENSG00000221888	ENST00000408896	T	0.00025	8.96	3.22	-0.764	0.11027	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00252	-1.77	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.31251	-0.9950	9	0.02654	T	1	.	4.4572	0.11649	0.3394:0.0999:0.0:0.5607	.	279	Q15619	OR1C1_HUMAN	T	279	ENSP00000386138:S279T	ENSP00000386138:S279T	S	-	1	0	OR1C1	245987497	0.000000	0.05858	0.037000	0.18230	0.079000	0.17450	-0.141000	0.10327	-0.012000	0.14223	0.482000	0.46254	TCA	OR1C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000221888		0.483	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	HGNC	protein_coding	OTTHUMT00000096855.1	-	0	30	0	A			247920874	-1	tier1	-	no_errors	ENST00000408896	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.002	T	T	247920874	A	T	247920874	3	4	184	1	0	0	0	0	1	0	0	0	10991	246	9	5	111	5	OR1C1	1	247920874	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	844252	247920874	1329747	64	45741											
OR11L1	391189	genome.wustl.edu	37	chr1	248004879	248004879	+	Missense_Mutation	SNP	A	A	C	1	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	gaaagcactcggtggcgccgAggaatacgaagaagtagagc	14	4	15	8	4	0	2	0	0	0	2	1	6	0	3	1	3	3	2	1	3	6	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:248004879A>C	ENST00000355784.2	-	1	375	c.320T>G	c.(319-321)cTc>cGc	p.L107R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	107						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGGCGCCGAGGAATACGAA	0.602																																																	0													54	46	49					1																	248004879		2203	4300	6503	SO:0001583	missense	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.320T>G	1.37:g.248004879A>C	ENSP00000348033:p.Leu107Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L107R	ENST00000355784.2	37	c.320	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356789	0.24598	.	.	ENSG00000197591	ENST00000355784	T	0.01335	5.0	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	U	0.002099	T	0.09992	0.0245	H	0.94582	3.555	0.09310	N	1	D	0.71674	0.998	D	0.65233	0.933	T	0.09596	-1.0667	10	0.87932	D	0	.	8.2183	0.31526	0.9079:0.0:0.0921:0.0	.	107	Q8NGX0	O11L1_HUMAN	R	107	ENSP00000348033:L107R	ENSP00000348033:L107R	L	-	2	0	OR11L1	246071502	0.005000	0.15991	0.140000	0.22221	0.006000	0.05464	1.697000	0.37784	1.889000	0.54706	0.443000	0.29094	CTC	OR11L1	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197591		0.602	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	-	0	29	0	A	NM_001001959		248004879	-1	tier1	-	no_errors	ENST00000355784	ensembl	human	known	74_37	missense	26.32	14	5	SNP	0.301	C	C	248004879	A	C	248004879	3	2	184	1	0	0	0	0	1	0	0	0	10969	304	11	4	652	4	OR11L1	1	248004879	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	84005	248004879	1245742	65	45742											
PGBD2	267002	genome.wustl.edu	37	chr1	249211387	249211387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaggagaaggatgttctggGaaacctctcccgattcacat	12	9	10	10	1	3	1	1	0	2	1	4	5	3	3	2	3	1	1	2	3	3	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr1:249211387G>A	ENST00000329291.5	+	3	751	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.E199K	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	202										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)			GATGTTCTGGGAAACCTCTCC	0.388																																																	0													139	141	141					1																	249211387		2203	4300	6503	SO:0001583	missense	0			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.604G>A	1.37:g.249211387G>A	ENSP00000331643:p.Glu202Lys		B3KVR8|Q6MZF8	Missense_Mutation	SNP	NULL	p.E202K	ENST00000329291.5	37	c.604	CCDS31128.1	1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728540	0.69074	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.16897	2.31;2.31	4.04	4.04	0.47022	.	0.000000	0.37715	N	0.001965	T	0.31765	0.0807	L	0.52364	1.645	0.30083	N	0.808973	D;D	0.76494	0.998;0.999	D;D	0.83275	0.944;0.996	T	0.04650	-1.0936	10	0.25106	T	0.35	-34.7443	11.9052	0.52708	0.0:0.0:1.0:0.0	.	199;202	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	K	202;199	ENSP00000331643:E202K;ENSP00000439950:E199K	ENSP00000331643:E202K	E	+	1	0	PGBD2	247178010	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.644000	0.37228	2.243000	0.73865	0.655000	0.94253	GAA	PGBD2	-	NULL	ENSG00000185220		0.388	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGBD2	HGNC	protein_coding	OTTHUMT00000097318.1	-	0	38	0	G			249211387	1	tier1	-	no_errors	ENST00000329291	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	A	A	249211387	G	A	249211387	3	1	184	1	0	0	0	0	1	0	0	0	11820	1175	41	3	610	3	PGBD2	1	249211387	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1206508	249211387	39234	66	45743											
SOX11	6664	genome.wustl.edu	37	chr2	5833136	5833136	+	Missense_Mutation	SNP	A	A	C	1	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	aaatgctgaaggacagcgagAagatcccgttcatccgggag	13	6	13	9	3	1	3	1	1	0	2	3	6	3	5	2	2	2	2	2	2	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:5833136A>C	ENST00000322002.3	+	1	338	c.283A>C	c.(283-285)Aag>Cag	p.K95Q	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	95					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GGACAGCGAGAAGATCCCGTT	0.597																																																	0													45	50	49					2																	5833136		2203	4300	6503	SO:0001583	missense	0				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.283A>C	2.37:g.5833136A>C	ENSP00000322568:p.Lys95Gln		Q4ZFV8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.K95Q	ENST00000322002.3	37	c.283	CCDS1654.1	2	.	.	.	.	.	.	.	.	.	.	A	24.5	4.536587	0.85812	.	.	ENSG00000176887	ENST00000322002	D	0.99483	-5.99	2.82	2.82	0.32997	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.99381	0.9782	M	0.83223	2.63	0.80722	D	1	P	0.41102	0.738	P	0.60609	0.877	D	0.98760	1.0724	10	0.87932	D	0	.	11.2381	0.48953	1.0:0.0:0.0:0.0	.	95	P35716	SOX11_HUMAN	Q	95	ENSP00000322568:K95Q	ENSP00000322568:K95Q	K	+	1	0	SOX11	5750587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.691000	0.91279	1.271000	0.44313	0.391000	0.25812	AAG	SOX11	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	ENSG00000176887		0.597	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1	-	0	49	0	A	NM_003108		5833136	1	tier1	-	no_errors	ENST00000322002	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	C	C	5833136	A	C	5833136	3	2	184	1	0	0	0	0	1	0	0	0	14987	247	9	4	285	4	SOX11	2	5833136	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09		5833136	237366237	67	45744											
KCNF1	3754	genome.wustl.edu	37	chr2	11053879	11053879	+	Frame_Shift_Del	DEL	G	G	-																															gcgggggcgagggcaagaccGggggctcccgcagtgacctg																										TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:11053879delG	ENST00000295082.1	+	1	1817	c.1327delG	c.(1327-1329)gggfs	p.G444fs		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	444					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)		GGGCAAGACCGGGGGCTCCCG	0.662																																																	0													25	28	27					2																	11053879		2203	4299	6502	SO:0001589	frameshift_variant	0			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.1327delG	2.37:g.11053879delG	ENSP00000295082:p.Gly444fs		O43527|Q585L3	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6	p.G444fs	ENST00000295082.1	37	c.1327	CCDS1676.1	2																																																																																			KCNF1	-	NULL	ENSG00000162975		0.662	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNF1	HGNC	protein_coding	OTTHUMT00000239265.1		0	30	0	G	NM_002236		11053879	1	tier1		no_errors	ENST00000295082	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	0.875	-	-	11053879	G	-	11053879	7	5	184	1	0	1	0	1	0	0	0	0	8053	1116	39	0	1329	0	KCNF1	2	11053879	Frame_Shift_Del	DEL	G	TCGA-Z6-AAPN-01A-11D-A403-09	5220743	11053879	232145494	68	45745											
DNMT3A	1788	genome.wustl.edu	37	chr2	25497920	25497920	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccgctgacggaggctggactCccagcccaagccaccccgca	8	3	11	19	3	0	1	0	1	0	0	1	3	1	3	6	3	2	3	6	3	1	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:25497920C>G	ENST00000264709.3	-	6	866	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	DNMT3A_ENST00000321117.5_Missense_Mutation_p.E177Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	177					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)					AGGCTGGACTCCCAGCCCAAG	0.677			"Mis, F, N, S"		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													18	18	18					2																	25497920		2201	4296	6497	SO:0001583	missense	0				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.529G>C	2.37:g.25497920C>G	ENSP00000264709:p.Glu177Gln		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.E177Q	ENST00000264709.3	37	c.529	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918689	0.92249	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	D;D	0.94687	-3.49;-3.49	5.09	5.09	0.68999	.	0.165828	0.38778	N	0.001570	D	0.94295	0.8167	N	0.24115	0.695	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	D	0.94542	0.7746	10	0.46703	T	0.11	-14.5205	16.0069	0.80370	0.0:1.0:0.0:0.0	.	177	Q9Y6K1	DNM3A_HUMAN	Q	177	ENSP00000324375:E177Q;ENSP00000264709:E177Q	ENSP00000264709:E177Q	E	-	1	0	DNMT3A	25351424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.125000	0.77193	2.367000	0.80283	0.561000	0.74099	GAG	DNMT3A	-	NULL	ENSG00000119772		0.677	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	-	0	81	0	C	NM_022552		25497920	-1	tier1	-	no_errors	ENST00000264709	ensembl	human	known	74_37	missense	10.71	75	9	SNP	1.000	G	G	25497920	C	G	25497920	3	3	184	1	0	0	0	0	1	0	0	0	4690	864	30	5	2361	5	DNMT3A	2	25497920	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	14444041	25497920	217701453	69	45746											
IFT172	26160	genome.wustl.edu	37	chr2	27679461	27679461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcctctcctcccaggctCtttgcccacagataggccac	7	8	8	18	0	2	1	0	0	2	1	4	1	3	1	5	2	2	2	5	2	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:27679461C>G	ENST00000260570.3	-	30	3391	c.3288G>C	c.(3286-3288)aaG>aaC	p.K1096N		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1096					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)					CTCCCAGGCTCTTTGCCCACA	0.522																																																	0													136	127	130					2																	27679461		2203	4300	6503	SO:0001583	missense	0			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.3288G>C	2.37:g.27679461C>G	ENSP00000260570:p.Lys1096Asn		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.K1096N	ENST00000260570.3	37	c.3288	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812271	0.50527	.	.	ENSG00000138002	ENST00000260570	T	0.45668	0.89	5.99	1.72	0.24424	.	0.111471	0.64402	D	0.000004	T	0.39627	0.1085	M	0.67397	2.05	0.80722	D	1	B	0.33940	0.433	B	0.35312	0.2	T	0.26815	-1.0092	10	0.45353	T	0.12	-23.8502	9.9315	0.41525	0.0:0.6405:0.0:0.3595	.	1096	Q9UG01	IF172_HUMAN	N	1096	ENSP00000260570:K1096N	ENSP00000260570:K1096N	K	-	3	2	IFT172	27532965	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.022000	0.30052	0.439000	0.26476	0.655000	0.94253	AAG	IFT172	-	NULL	ENSG00000138002		0.522	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	-	0	31	0	C	NM_015662		27679461	-1	tier1	-	no_errors	ENST00000260570	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.998	G	G	27679461	C	G	27679461	3	3	184	1	0	0	0	0	1	0	0	0	7584	912	32	5	2037	5	IFT172	2	27679461	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2181541	27679461	215519912	70	45747											
IFT172	26160	genome.wustl.edu	37	chr2	27683889	27683889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtggctagtacctttcatGaatgcgttgcctttacggta	8	14	11	8	2	1	1	1	1	0	0	1	1	1	1	2	3	4	4	2	3	5	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:27683889G>A	ENST00000260570.3	-	23	2617	c.2514C>T	c.(2512-2514)ttC>ttT	p.F838F		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	838					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)					TACCTTTCATGAATGCGTTGC	0.483																																																	0													203	164	177					2																	27683889		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2514C>T	2.37:g.27683889G>A			A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.F838	ENST00000260570.3	37	c.2514	CCDS1755.1	2																																																																																			IFT172	-	superfamily_ARM-type_fold	ENSG00000138002		0.483	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	-	0	49	0	G	NM_015662		27683889	-1	tier1	-	no_errors	ENST00000260570	ensembl	human	known	74_37	silent	32.69	35	17	SNP	1.000	A	A	27683889	G	A	27683889	2	1	184	1	0	0	0	0	0	0	0	1	7584	1281	45	3		3	IFT172	2	27683889	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	4428	27683889	215515484	71	45748											
HEATR5B	54497	genome.wustl.edu	37	chr2	37230747	37230747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttactatctgttgtacaactCcagtaaccaacagctggaca	13	11	6	11	0	1	0	0	0	1	0	2	1	2	1	2	1	6	4	2	1	6	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:37230747C>G	ENST00000233099.5	-	31	5083	c.4988G>C	c.(4987-4989)gGa>gCa	p.G1663A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G1663A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1663						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)				TTGTACAACTCCAGTAACCAA	0.378																																																	0													82	81	82					2																	37230747		2203	4300	6503	SO:0001583	missense	0			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.4988G>C	2.37:g.37230747C>G	ENSP00000233099:p.Gly1663Ala		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G1663A	ENST00000233099.5	37	c.4988	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397171	0.42512	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.65178	-0.14;-0.14	5.51	5.51	0.81932	Armadillo-type fold (1);	0.055536	0.64402	D	0.000001	T	0.34164	0.0888	N	0.01352	-0.895	0.39789	D	0.972405	B	0.02656	0.0	B	0.04013	0.001	T	0.30416	-0.9979	10	0.25106	T	0.35	-21.6927	15.2862	0.73831	0.0:0.8604:0.1396:0.0	.	1663	Q9P2D3	HTR5B_HUMAN	A	1663	ENSP00000233099:G1663A;ENSP00000346531:G1663A	ENSP00000233099:G1663A	G	-	2	0	HEATR5B	37084251	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.934000	0.40163	2.736000	0.93811	0.655000	0.94253	GGA	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.378	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	-	0	59	0	C	NM_019024		37230747	-1	tier1	-	no_errors	ENST00000233099	ensembl	human	known	74_37	missense	26.53	72	26	SNP	1.000	G	G	37230747	C	G	37230747	3	3	184	1	0	0	0	0	1	0	0	0	7059	855	30	5	1251	5	HEATR5B	2	37230747	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	9546858	37230747	205968626	72	45749											
PLEKHH2	130271	genome.wustl.edu	37	chr2	43924327	43924327	+	Missense_Mutation	SNP	T	T	G	0	1	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	tagaagttcaaggaaagaagTcatccactgtctctacacta	15	10	7	9	0	3	2	2	0	1	2	5	3	4	3	1	1	1	1	1	1	7	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:43924327T>G	ENST00000282406.4	+	7	630	c.520T>G	c.(520-522)Tca>Gca	p.S174A		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	174					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)				AGGAAAGAAGTCATCCACTGT	0.378																																																	0													124	126	126					2																	43924327		2203	4300	6503	SO:0001583	missense	0			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.520T>G	2.37:g.43924327T>G	ENSP00000282406:p.Ser174Ala		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.S174A	ENST00000282406.4	37	c.520	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	T	1.338	-0.594781	0.03771	.	.	ENSG00000152527	ENST00000282406	T	0.44881	0.91	5.04	-0.432	0.12291	.	2.193340	0.01990	N	0.045430	T	0.24509	0.0594	L	0.27053	0.805	0.09310	N	1	B;B	0.14438	0.001;0.01	B;B	0.13407	0.003;0.009	T	0.05241	-1.0897	10	0.08179	T	0.78	0.6293	0.805	0.01082	0.3104:0.1124:0.1585:0.4187	.	174;174	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	A	174	ENSP00000282406:S174A	ENSP00000282406:S174A	S	+	1	0	PLEKHH2	43777831	0.014000	0.17966	0.102000	0.21198	0.714000	0.41099	-0.201000	0.09464	-0.043000	0.13513	-0.503000	0.04515	TCA	PLEKHH2	-	NULL	ENSG00000152527		0.378	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	-	0	72	0	T	NM_172069		43924327	1	tier1	-	no_errors	ENST00000282406	ensembl	human	known	74_37	missense	12.15	94	13	SNP	0.017	G	G	43924327	T	G	43924327	3	3	184	1	0	0	0	0	1	0	0	0	12116	1667	58	4	542	4	PLEKHH2	2	43924327	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	6693580	43924327	199275046	73	45750											
LRPPRC	10128	genome.wustl.edu	37	chr2	44190798	44190798	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgtatatgtttcctgatCaggatgtactcccaattctt	9	17	6	9	0	3	1	1	1	2	0	5	2	5	2	2	1	1	3	2	1	4	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:44190798C>G	ENST00000260665.7	-	12	1474	c.1417G>C	c.(1417-1419)Gat>Cat	p.D473H	LRPPRC_ENST00000409659.1_Missense_Mutation_p.D473H|LRPPRC_ENST00000409946.1_Missense_Mutation_p.D473H	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	473					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)				GTTTCCTGATCAGGATGTACT	0.343																																																	0													146	141	143					2																	44190798		2203	4300	6503	SO:0001583	missense	0			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.1417G>C	2.37:g.44190798C>G	ENSP00000260665:p.Asp473His		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.D473H	ENST00000260665.7	37	c.1417	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701525	0.30142	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946;ENST00000409659	T;T;T	0.38240	1.15;1.15;1.15	5.47	1.63	0.23807	.	0.049904	0.85682	D	0.000000	T	0.52693	0.1750	M	0.76002	2.32	0.35381	D	0.789908	D;B	0.69078	0.997;0.034	D;B	0.68765	0.96;0.029	T	0.60260	-0.7298	10	0.87932	D	0	-16.7816	7.3175	0.26509	0.0:0.6332:0.1121:0.2547	.	373;473	F5H4J6;P42704	.;LPPRC_HUMAN	H	373;473;473;473	ENSP00000260665:D473H;ENSP00000386234:D473H;ENSP00000386562:D473H	ENSP00000260665:D473H	D	-	1	0	LRPPRC	44044302	0.995000	0.38212	0.422000	0.26621	0.002000	0.02628	0.998000	0.29744	0.017000	0.15025	-1.008000	0.02478	GAT	LRPPRC	-	NULL	ENSG00000138095		0.343	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	-	0	51	0	C	NM_133259		44190798	-1	tier1	-	no_errors	ENST00000260665	ensembl	human	known	74_37	missense	12.50	42	6	SNP	0.551	G	G	44190798	C	G	44190798	3	3	184	1	0	0	0	0	1	0	0	0	9000	826	29	5	2875	5	LRPPRC	2	44190798	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	266471	44190798	199008575	74	45751											
SLC3A1	6519	genome.wustl.edu	37	chr2	44547731	44547731	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagatgctttgtttccaatCgagcatgctattccagtgta	10	15	8	8	1	0	1	0	0	0	1	3	2	2	1	2	0	3	5	2	0	4	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:44547731C>T	ENST00000260649.6	+	10	2087	c.2011C>T	c.(2011-2013)Cga>Tga	p.R671*	PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|SLC3A1_ENST00000409740.3_Nonsense_Mutation_p.R302*|SLC3A1_ENST00000409380.1_Nonsense_Mutation_p.R393*	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	671					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)	TGTTTCCAATCGAGCATGCTA	0.423																																																	0													89	74	79					2																	44547731		2203	4300	6503	SO:0001587	stop_gained	0				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.2011C>T	2.37:g.44547731C>T	ENSP00000260649:p.Arg671*		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Nonsense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	p.R671*	ENST00000260649.6	37	c.2011	CCDS1819.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.262325	0.98732	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	.	.	.	5.99	5.04	0.67666	.	0.164236	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-4.4218	11.7671	0.51937	0.3744:0.6256:0.0:0.0	.	.	.	.	X	671;607;393;302	.	ENSP00000260649:R671X	R	+	1	2	SLC3A1	44401235	1.000000	0.71417	0.021000	0.16686	0.845000	0.48019	4.909000	0.63314	2.840000	0.97914	0.655000	0.94253	CGA	SLC3A1	-	NULL	ENSG00000138079		0.423	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC3A1	HGNC	protein_coding	OTTHUMT00000250676.1	-	0	21	0	C	NM_000341		44547731	1	tier1	-	no_errors	ENST00000260649	ensembl	human	known	74_37	nonsense	31.03	20	9	SNP	0.637	T	T	44547731	C	T	44547731	4	4	184	1	0	0	0	0	0	1	0	0	14671	876	31	1	2049	1	SLC3A1	2	44547731	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	356933	44547731	198651642	75	45752											
PREPL	9581	genome.wustl.edu	37	chr2	44586684	44586684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttgctaactctgatatCttgggtttattctgaagaca	9	18	7	7	0	4	3	0	2	4	1	4	3	4	3	0	1	2	2	0	1	4	8			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:44586684C>T	ENST00000409936.1	-	2	608	c.171G>A	c.(169-171)aaG>aaA	p.K57K	PREPL_ENST00000378520.3_Silent_p.K57K|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000540817.1_Intron|CAMKMT_ENST00000403853.3_5'Flank|CAMKMT_ENST00000378494.3_5'Flank|PREPL_ENST00000260648.6_Silent_p.K57K|CAMKMT_ENST00000402247.1_5'Flank|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000409272.1_Silent_p.K57K|CAMKMT_ENST00000407131.1_5'Flank|PREPL_ENST00000410081.1_Silent_p.K57K|PREPL_ENST00000378511.3_Silent_p.K57K	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	57						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)				ACTCTGATATCTTGGGTTTAT	0.318																																																	0													153	154	154					2																	44586684		2203	4300	6503	SO:0001819	synonymous_variant	0			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.171G>A	2.37:g.44586684C>T			A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Silent	SNP	pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A	p.K57	ENST00000409936.1	37	c.171	CCDS33190.1	2																																																																																			PREPL	-	NULL	ENSG00000138078		0.318	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	-	0	92	0	C	NM_006036		44586684	-1	tier1	-	no_errors	ENST00000260648	ensembl	human	known	74_37	silent	16.88	64	13	SNP	1.000	T	T	44586684	C	T	44586684	2	4	184	1	0	0	0	0	0	0	0	1	12517	912	32	3		3	PREPL	2	44586684	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	38953	44586684	198612689	76	45753											
C2orf86	51057	genome.wustl.edu	37	chr2	63631310	63631310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgcatttgaacaagactGctggaggcatcaaataattt	14	12	8	7	0	1	2	1	1	0	1	1	3	1	3	0	2	3	3	0	2	4	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:63631310G>T	ENST00000272321.7	-	10	1835	c.1308C>A	c.(1306-1308)agC>agA	p.S436R	WDPCP_ENST00000409120.1_Missense_Mutation_p.S244R|WDPCP_ENST00000409199.1_Missense_Mutation_p.S244R|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000398544.3_Missense_Mutation_p.S277R|WDPCP_ENST00000409562.3_Missense_Mutation_p.S436R	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	436					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						GAACAAGACTGCTGGAGGCAT	0.433																																																	0													99	95	96					2																	63631310		1915	4129	6044	SO:0001583	missense	0				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.1308C>A	2.37:g.63631310G>T	ENSP00000272321:p.Ser436Arg		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.S436R	ENST00000272321.7	37	c.1308	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383601	0.25031	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.52	3.55	0.40652	.	0.227075	0.49916	D	0.000137	T	0.43456	0.1248	M	0.65975	2.015	0.34497	D	0.705617	P;P;B;P	0.49090	0.655;0.919;0.372;0.603	B;P;B;B	0.46275	0.305;0.51;0.202;0.203	T	0.54827	-0.8235	10	0.22706	T	0.39	-3.1702	10.471	0.44638	0.2249:0.0:0.7751:0.0	.	244;436;436;277	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	R	436;244;244;277;436	ENSP00000272321:S436R;ENSP00000386592:S244R;ENSP00000386769:S244R;ENSP00000381552:S277R;ENSP00000387222:S436R	ENSP00000272321:S436R	S	-	3	2	WDPCP	63484814	0.999000	0.42202	1.000000	0.80357	0.951000	0.60555	1.058000	0.30504	0.685000	0.31468	0.591000	0.81541	AGC	WDPCP	-	pfam_DUF3312	ENSG00000143951		0.433	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	-	0	53	0	G	NM_015910		63631310	-1	tier1	-	no_errors	ENST00000272321	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	T	T	63631310	G	T	63631310	3	4	184	1	0	0	0	0	1	0	0	0	2208	1310	46	3	968	3	C2orf86	2	63631310	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	19044626	63631310	179568063	77	45754											
PLEK	5341	genome.wustl.edu	37	chr2	68620294	68620294	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgttgatcctggatacagGggcatagaaggaaaaactgg	15	8	13	5	0	0	2	0	1	0	1	1	4	1	4	1	5	2	2	1	5	6	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:68620294G>A	ENST00000234313.7	+	7	942	c.763G>A	c.(763-765)Ggg>Agg	p.G255R		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	255	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CTGGATACAGGGGCATAGAAG	0.433																																																	0													151	142	145					2																	68620294		2203	4300	6503	SO:0001630	splice_region_variant	0			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.763-1G>A	2.37:g.68620294G>A			B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology	p.G255R	ENST00000234313.7	37	c.763	CCDS1887.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.231046	0.95207	.	.	ENSG00000115956	ENST00000234313	T	0.36699	1.24	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.60910	-0.7169	9	.	.	.	.	19.6065	0.95583	0.0:0.0:1.0:0.0	.	273;255	Q59GZ2;P08567	.;PLEK_HUMAN	R	255	ENSP00000234313:G255R	.	G	+	1	0	PLEK	68473798	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.405000	0.97313	2.744000	0.94065	0.561000	0.74099	GGG	PLEK	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115956		0.433	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEK	HGNC	protein_coding	OTTHUMT00000251755.1	-	0	79	0	G	NM_002664	Missense_Mutation	68620294	1	tier1	-	no_errors	ENST00000234313	ensembl	human	known	74_37	missense	40.79	45	31	SNP	1.000	A	A	68620294	G	A	68620294	5	1	184	1	0	0	0	0	0	0	1	0	12092	1246	43	3	789	3	PLEK	2	68620294	Splice_Site	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	4988984	68620294	174579079	78	45755											
DQX1	165545	genome.wustl.edu	37	chr2	74746774	74746774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggacaagggaagttcaattCgttgcatgagttctaggagt	11	11	14	5	1	2	1	1	1	1	0	3	4	2	4	0	3	1	4	0	3	4	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:74746774C>T	ENST00000404568.3	-	10	1934	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	DQX1_ENST00000393951.2_Missense_Mutation_p.R572Q	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	572						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						AAGTTCAATTCGTTGCATGAG	0.517																																																	0													145	140	142					2																	74746774		2203	4300	6503	SO:0001583	missense	0			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1715G>A	2.37:g.74746774C>T	ENSP00000384621:p.Arg572Gln		Q6B017|Q8NAM8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.R572Q	ENST00000404568.3	37	c.1715	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259774	0.59321	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.03242	4.0;4.0	5.69	1.0	0.19881	Domain of unknown function DUF1605 (1);	0.344250	0.22606	N	0.057899	T	0.07683	0.0193	M	0.91406	3.205	0.32557	N	0.531624	B	0.34290	0.447	B	0.26969	0.075	T	0.03184	-1.1063	10	0.59425	D	0.04	-27.7225	9.5244	0.39156	0.0:0.6649:0.0:0.3351	.	572	Q8TE96	DQX1_HUMAN	Q	572	ENSP00000377523:R572Q;ENSP00000384621:R572Q	ENSP00000377523:R572Q	R	-	2	0	DQX1	74600282	0.768000	0.28519	0.901000	0.35422	0.991000	0.79684	0.754000	0.26390	-0.067000	0.12976	-0.137000	0.14449	CGA	DQX1	-	pfam_DUF1605	ENSG00000144045		0.517	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	HGNC	protein_coding	OTTHUMT00000252230.3		0	38	0	C	NM_133637		74746774	-1			no_errors	ENST00000393951	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.928	T	T	74746774	C	T	74746774	3	4	184	1	0	0	0	0	1	0	0	0	4765	884	31	1	450	1	DQX1	2	74746774	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	6126480	74746774	168452599	79	45756											
HK2	3099	genome.wustl.edu	37	chr2	75104436	75104436	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgagaccaaagacatctCagacattgaagggtgagctt	13	10	10	8	0	1	5	1	3	1	3	2	6	1	5	1	1	1	1	1	1	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:75104436C>G	ENST00000290573.2	+	8	1619	c.1019C>G	c.(1018-1020)tCa>tGa	p.S340*	HK2_ENST00000409174.1_Nonsense_Mutation_p.S312*	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	340	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AAAGACATCTCAGACATTGAA	0.552																																																	0													122	130	127					2																	75104436		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1019C>G	2.37:g.75104436C>G	ENSP00000290573:p.Ser340*		D6W5J2|Q8WU87|Q9UN82	Nonsense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.S340*	ENST00000290573.2	37	c.1019	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	40	7.958864	0.98583	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	.	.	.	5.07	5.07	0.68467	.	0.301552	0.37715	N	0.001963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.0088	16.3236	0.82964	0.0:1.0:0.0:0.0	.	.	.	.	X	340;340;312	.	ENSP00000290573:S340X	S	+	2	0	HK2	74957944	1.000000	0.71417	0.987000	0.45799	0.370000	0.29829	5.806000	0.69150	2.793000	0.96121	0.655000	0.94253	TCA	HK2	-	pfam_Hexokinase_C	ENSG00000159399		0.552	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2		0	30	0	C	NM_000189		75104436	1			no_errors	ENST00000290573	ensembl	human	known	74_37	nonsense	11.11	24	3	SNP	1.000	G	G	75104436	C	G	75104436	4	3	184	1	0	0	0	0	0	1	0	0	7218	838	29	5	1049	5	HK2	2	75104436	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	357662	75104436	168094937	80	45757											
KCMF1	56888	genome.wustl.edu	37	chr2	85276546	85276546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggacagcttaattcctCtggcccttccgcttctcagt	7	12	9	13	1	2	0	1	0	2	0	5	2	4	2	3	3	1	2	3	3	1	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:85276546C>T	ENST00000409785.4	+	6	1018	c.659C>T	c.(658-660)tCt>tTt	p.S220F		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	220							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CTTAATTCCTCTGGCCCTTCC	0.498																																																	0													106	112	110					2																	85276546		2143	4247	6390	SO:0001583	missense	0			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.659C>T	2.37:g.85276546C>T	ENSP00000386738:p.Ser220Phe		Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_Di19_Zn_binding,smart_Znf_ZZ,smart_Znf_C2H2-like,pfscan_Znf_ZZ,pfscan_Znf_C2H2	p.S220F	ENST00000409785.4	37	c.659	CCDS46350.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.116047	0.94339	.	.	ENSG00000176407	ENST00000409785	T	0.50548	0.74	5.96	5.96	0.96718	Drought induced 19/ RING finger protein 114 (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	L	0.38175	1.15	0.80722	D	1	D	0.65815	0.995	D	0.63597	0.916	T	0.58544	-0.7618	10	0.62326	D	0.03	-15.9669	17.9158	0.88950	0.0:1.0:0.0:0.0	.	220	Q9P0J7	KCMF1_HUMAN	F	220	ENSP00000386738:S220F	ENSP00000386738:S220F	S	+	2	0	KCMF1	85130057	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.534000	0.82004	2.832000	0.97577	0.655000	0.94253	TCT	KCMF1	-	pfam_Di19_Zn_binding	ENSG00000176407		0.498	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCMF1	HGNC	protein_coding	OTTHUMT00000328942.4	-	0	28	0	C	NM_020122		85276546	1	tier1	-	no_errors	ENST00000409785	ensembl	human	known	74_37	missense	53.85	18	21	SNP	1.000	T	T	85276546	C	T	85276546	3	4	184	1	0	0	0	0	1	0	0	0	8027	913	32	3	681	3	KCMF1	2	85276546	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	10172110	85276546	157922827	81	45758											
MERTK	10461	genome.wustl.edu	37	chr2	112779081	112779081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgattattaccgccaaggcCgcattgctaagatgcctgtt	9	11	10	11	3	0	1	0	0	0	1	0	2	0	1	4	1	3	3	4	1	4	5	rs200576584		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:112779081C>A	ENST00000295408.4	+	17	2529	c.2272C>A	c.(2272-2274)Cgc>Agc	p.R758S	MERTK_ENST00000409780.1_Missense_Mutation_p.R582S|MERTK_ENST00000421804.2_Missense_Mutation_p.R758S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	758	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CCGCCAAGGCCGCATTGCTAA	0.463																																																	0													140	135	136					2																	112779081		2203	4300	6503	SO:0001583	missense	0			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.2272C>A	2.37:g.112779081C>A	ENSP00000295408:p.Arg758Ser		Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R758S	ENST00000295408.4	37	c.2272	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379945	0.42207	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34088	U	0.004274	D	0.84732	0.5537	N	0.25957	0.775	0.80722	D	1	D	0.58970	0.984	D	0.68039	0.955	T	0.80082	-0.1531	10	0.15952	T	0.53	-24.4355	19.012	0.92877	0.0:1.0:0.0:0.0	.	758	Q12866	MERTK_HUMAN	S	758;758;394;582;82	ENSP00000295408:R758S;ENSP00000389152:R758S;ENSP00000387277:R582S;ENSP00000412660:R82S	ENSP00000295408:R758S	R	+	1	0	MERTK	112495552	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.682000	0.54656	2.724000	0.93272	0.563000	0.77884	CGC	MERTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000153208		0.463	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	-	0	31	0	C			112779081	1	tier1	-	no_errors	ENST00000295408	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A	A	112779081	C	A	112779081	3	1	184	1	0	0	0	0	1	0	0	0	9517	652	23	2	2338	2	MERTK	2	112779081	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	27502535	112779081	130420292	82	45759											
POLR1B	84172	genome.wustl.edu	37	chr2	113331138	113331138	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgattcttttacttcacaGattgtgaataaggcctcttg	11	15	7	8	1	3	2	1	1	2	1	3	3	3	2	1	1	2	0	1	1	4	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:113331138G>A	ENST00000263331.5	+	14	2851		c.e14-1		POLR1B_ENST00000541869.1_Splice_Site|POLR1B_ENST00000537335.1_Splice_Site|POLR1B_ENST00000409894.3_Splice_Site|POLR1B_ENST00000417433.2_Splice_Site	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa						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						TTACTTCACAGATTGTGAATA	0.388																																					Ovarian(16;256 576 9537 23969 41147)												0													60	61	61					2																	113331138		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2272-1G>A	2.37:g.113331138G>A			B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Splice_Site	SNP	-	e15-1	ENST00000263331.5	37	c.2386-1	CCDS2097.1	2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457078	0.84317	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000458012;ENST00000536096	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8475	0.88734	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLR1B	113047609	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	9.365000	0.97139	2.490000	0.84030	0.650000	0.86243	.	POLR1B	-	-	ENSG00000125630		0.388	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	-	0	40	0	G	NM_019014	Intron	113331138	1	tier1	-	no_errors	ENST00000541869	ensembl	human	known	74_37	splice_site	21.43	44	12	SNP	1.000	A	A	113331138	G	A	113331138	5	1	184	1	0	0	0	0	0	0	1	0	12249	956	33	3	2325	3	POLR1B	2	113331138	Splice_Site	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	552057	113331138	129868235	83	45760											
DCAF17	80067	genome.wustl.edu	37	chr2	172336638	172336638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgaaggaaaagctcacctgGatttccactgtaatgaatat	14	11	8	8	0	1	2	1	2	0	0	2	4	2	4	2	2	1	2	2	2	6	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:172336638G>C	ENST00000375255.3	+	13	1684	c.1357G>C	c.(1357-1359)Gat>Cat	p.D453H	DCAF17_ENST00000539783.1_Missense_Mutation_p.D386H|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	453					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						AGCTCACCTGGATTTCCACTG	0.393																																																	0													132	130	131					2																	172336638		2203	4300	6503	SO:0001583	missense	0			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.1357G>C	2.37:g.172336638G>C	ENSP00000364404:p.Asp453His		B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	NULL	p.D453H	ENST00000375255.3	37	c.1357	CCDS2243.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.034281|4.034281	0.75617|0.75617	.|.	.|.	ENSG00000115827|ENSG00000115827	ENST00000375255;ENST00000539783;ENST00000429466|ENST00000339506;ENST00000431110	T;T|.	0.46063|.	0.88;0.89|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.272882|.	0.42294|.	D|.	0.000735|.	T|T	0.71693|0.71693	0.3370|0.3370	L|L	0.51422|0.51422	1.61|1.61	0.43803|0.43803	D|D	0.996356|0.996356	D;D|.	0.71674|.	0.998;0.998|.	D;P|.	0.67382|.	0.951;0.904|.	T|T	0.65713|0.65713	-0.6101|-0.6101	10|5	0.59425|.	D|.	0.04|.	-19.0493|-19.0493	20.4192|20.4192	0.99033|0.99033	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	386;453|.	F5H7W1;Q5H9S7|.	.;DCA17_HUMAN|.	H|C	453;386;203|203;154	ENSP00000364404:D453H;ENSP00000442238:D386H|.	ENSP00000364404:D453H|.	D|W	+|+	1|3	0|0	DCAF17|DCAF17	172044884|172044884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.564000|5.564000	0.67359|0.67359	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GAT|TGG	DCAF17	-	NULL	ENSG00000115827		0.393	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF17	HGNC	protein_coding	OTTHUMT00000255342.2	-	0	72	0	G	NM_025000		172336638	1	tier1	-	no_errors	ENST00000375255	ensembl	human	known	74_37	missense	20.69	46	12	SNP	1.000	C	C	172336638	G	C	172336638	3	2	184	1	0	0	0	0	1	0	0	0	4278	1174	41	5	1407	5	DCAF17	2	172336638	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	59005500	172336638	70862735	84	45761											
HOXD12	3238	genome.wustl.edu	37	chr2	176965274	176965274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgtggggggcggccccggGgagggcccgcaagaagcgga	6	1	22	12	5	0	1	0	0	0	1	0	3	0	3	4	8	1	1	4	8	2	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:176965274G>C	ENST00000406506.2	+	2	671	c.599G>C	c.(598-600)gGg>gCg	p.G200A	HOXD12_ENST00000404162.2_Silent_p.G209G			P35452	HXD12_HUMAN	homeobox D12	200				LPWGAAPGR -> KRCPCSPGRPAVGGGPGE (in Ref. 1; AAF79044). {ECO:0000305}.	embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GCGGCCCCGGGGAGGGCCCGC	0.627																																																	0																																										SO:0001583	missense	0				CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"Homeoboxes / ANTP class : HOXL subclass"	5135	protein-coding gene	gene with protein product		142988	"homeo box D12"	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.599G>C	2.37:g.176965274G>C	ENSP00000385586:p.Gly200Ala		B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G200A	ENST00000406506.2	37	c.599	CCDS46456.1	2	.	.	.	.	.	.	.	.	.	.	G	7.225	0.598077	0.13939	.	.	ENSG00000170178	ENST00000406506	D	0.95690	-3.78	5.57	4.64	0.57946	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.448815	0.27420	N	0.019444	D	0.88998	0.6590	N	0.16478	0.41	0.80722	D	1	B	0.21606	0.058	B	0.21917	0.037	D	0.84089	0.0389	10	0.06757	T	0.87	.	14.4953	0.67683	0.0:0.2691:0.7309:0.0	.	200	P35452	HXD12_HUMAN	A	200	ENSP00000385586:G200A	ENSP00000385586:G200A	G	+	2	0	HOXD12	176673520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.198000	0.58419	2.630000	0.89119	0.655000	0.94253	GGG	HOXD12	-	superfamily_Homeodomain-like,pfscan_Homeobox_dom	ENSG00000170178		0.627	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXD12	HGNC	protein_coding	OTTHUMT00000359253.2	-	0	65	0	G	NM_021193		176965274	1	tier1	-	no_errors	ENST00000406506	ensembl	human	known	74_37	missense	29.21	63	26	SNP	1.000	C	C	176965274	G	C	176965274	3	2	184	1	0	0	0	0	1	0	0	0	7348	1232	43	5	605	5	HOXD12	2	176965274	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	4628636	176965274	66234099	85	45762											
TTC30A	92104	genome.wustl.edu	37	chr2	178482187	178482187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccatggtttcatcatattCattcactgcctttttgatag	8	18	5	10	0	4	1	4	1	0	0	5	1	5	1	2	1	1	1	2	1	2	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:178482187C>T	ENST00000355689.5	-	1	1507	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	415					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TCATCATATTCATTCACTGCC	0.433																																																	0													231	233	233					2																	178482187		2203	4300	6503	SO:0001583	missense	0			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1243G>A	2.37:g.178482187C>T	ENSP00000347915:p.Glu415Lys		A8K8N0|Q8IVP2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.E415K	ENST00000355689.5	37	c.1243	CCDS2276.1	2	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813098	0.32053	.	.	ENSG00000197557	ENST00000355689	T	0.35421	1.31	5.91	5.91	0.95273	Tetratricopeptide-like helical (1);	0.091871	0.64402	D	0.000001	T	0.47893	0.1470	M	0.82517	2.595	0.80722	D	1	B	0.33777	0.425	B	0.32465	0.146	T	0.50866	-0.8777	10	0.52906	T	0.07	.	20.3829	0.98937	0.0:1.0:0.0:0.0	.	415	Q86WT1	TT30A_HUMAN	K	415	ENSP00000347915:E415K	ENSP00000347915:E415K	E	-	1	0	TTC30A	178190433	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	6.720000	0.74723	2.823000	0.97156	0.644000	0.83932	GAA	TTC30A	-	NULL	ENSG00000197557		0.433	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30A	HGNC	protein_coding	OTTHUMT00000255728.2	-	0	45	0	C	NM_152275		178482187	-1	tier1	-	no_errors	ENST00000355689	ensembl	human	known	74_37	missense	9.38	58	6	SNP	1.000	T	T	178482187	C	T	178482187	3	4	184	1	0	0	0	0	1	0	0	0	16747	835	29	3	758	3	TTC30A	2	178482187	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1516913	178482187	64717186	86	45763											
DFNB59	494513	genome.wustl.edu	37	chr2	179319173	179319173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taacgttgctggatcagattCcattgcagtgaaagcttcat	11	13	9	8	1	2	2	2	1	0	1	3	3	3	3	1	1	4	4	1	1	2	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:179319173C>G	ENST00000409117.3	+	3	682	c.326C>G	c.(325-327)tCc>tGc	p.S109C	PRKRA_ENST00000470200.1_5'Flank|DFNB59_ENST00000375129.4_Missense_Mutation_p.S109C	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	109					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GGATCAGATTCCATTGCAGTG	0.353																																																	0													86	85	85					2																	179319173		1899	4116	6015	SO:0001583	missense	0			BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.326C>G	2.37:g.179319173C>G	ENSP00000386647:p.Ser109Cys		A0PK14|B9EJE2	Missense_Mutation	SNP	pfam_Gasdermin	p.S109C	ENST00000409117.3	37	c.326	CCDS42787.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.33|19.33	3.807064|3.807064	0.70797|0.70797	.|.	.|.	ENSG00000204311|ENSG00000204311	ENST00000442710|ENST00000409117;ENST00000375129	.|T;T	.|0.22743	.|1.94;1.94	5.67|5.67	4.79|4.79	0.61399|0.61399	.|.	.|0.204781	.|0.17900	.|U	.|0.158223	T|T	0.16128|0.16128	0.0388|0.0388	N|N	0.17082|0.17082	0.46|0.46	0.58432|0.58432	D|D	0.999998|0.999998	.|B	.|0.12013	.|0.005	.|B	.|0.16289	.|0.015	T|T	0.03443|0.03443	-1.1036|-1.1036	5|10	.|0.36615	.|T	.|0.2	-2.0818|-2.0818	17.196|17.196	0.86892|0.86892	0.0:0.8741:0.1258:0.0|0.0:0.8741:0.1258:0.0	.|.	.|109	.|Q0ZLH3	.|PJVK_HUMAN	L|C	56|109	.|ENSP00000386647:S109C;ENSP00000364271:S109C	.|ENSP00000364271:S109C	F|S	+|+	3|2	2|0	DFNB59|DFNB59	179027419|179027419	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.996000|0.996000	0.88848|0.88848	5.730000|5.730000	0.68546|0.68546	1.511000|1.511000	0.48818|0.48818	0.655000|0.655000	0.94253|0.94253	TTC|TCC	DFNB59	-	pfam_Gasdermin	ENSG00000204311		0.353	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB59	HGNC	protein_coding	OTTHUMT00000335160.1	-	0	59	0	C			179319173	1	tier1	-	no_errors	ENST00000375129	ensembl	human	known	74_37	missense	27.45	37	14	SNP	1.000	G	G	179319173	C	G	179319173	3	3	184	1	0	0	0	0	1	0	0	0	4470	855	30	5	332	5	DFNB59	2	179319173	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	836986	179319173	63880200	87	45764											
CWC22	57703	genome.wustl.edu	37	chr2	180846701	180846701	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgtatctctttctctttctCtgcgtttttctcggtccctg	1	20	6	14	3	4	0	0	0	4	0	9	0	5	0	2	1	1	2	2	1	1	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:180846701C>G	ENST00000410053.3	-	5	529	c.230G>C	c.(229-231)aGa>aCa	p.R77T	CWC22_ENST00000295749.6_Missense_Mutation_p.R77T	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	77	Arg-rich.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ttctctttctctgcgtttttc	0.408																																																	0													46	44	44					2																	180846701		1751	3943	5694	SO:0001583	missense	0				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.230G>C	2.37:g.180846701C>G	ENSP00000387006:p.Arg77Thr		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.R77T	ENST00000410053.3	37	c.230	CCDS46465.1	2	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178230	0.38511	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.29655	1.56;1.56;1.56	5.45	4.58	0.56647	.	0.292761	0.35067	N	0.003464	T	0.30448	0.0765	M	0.66939	2.045	0.33880	D	0.636057	B	0.22276	0.067	B	0.12837	0.008	T	0.38286	-0.9668	10	0.39692	T	0.17	-13.5108	9.7082	0.40229	0.0:0.8355:0.0:0.1645	.	77	Q9HCG8	CWC22_HUMAN	T	77	ENSP00000387006:R77T;ENSP00000295749:R77T;ENSP00000384159:R77T	ENSP00000295749:R77T	R	-	2	0	CWC22	180554946	0.996000	0.38824	1.000000	0.80357	0.933000	0.57130	1.462000	0.35266	1.295000	0.44724	0.650000	0.86243	AGA	CWC22	-	NULL	ENSG00000163510		0.408	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	HGNC	protein_coding	OTTHUMT00000334537.1		0	21	0	C	NM_020943		180846701	-1			no_errors	ENST00000295749	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	G	G	180846701	C	G	180846701	3	3	184	1	0	0	0	0	1	0	0	0	4077	913	32	5	2560	5	CWC22	2	180846701	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1527528	180846701	62352672	88	45765											
UBE2E3	10477	genome.wustl.edu	37	chr2	181846835	181846835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagtggcagttcagatgcGgaccagcgagacccagccgc	10	4	14	13	3	1	2	1	0	0	2	1	4	1	3	3	2	4	3	3	2	0	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:181846835G>A	ENST00000410062.4	+	2	459	c.66G>A	c.(64-66)gcG>gcA	p.A22A	UBE2E3_ENST00000392415.2_Silent_p.A22A|UBE2E3_ENST00000602710.1_Silent_p.A22A|UBE2E3_ENST00000602475.1_Silent_p.A22A|UBE2E3_ENST00000602632.1_Silent_p.A22A|UBE2E3_ENST00000602959.1_Silent_p.A22A|AC104076.3_ENST00000428080.1_RNA	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	22					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.A22A(1)		breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						GTTCAGATGCGGACCAGCGAG	0.493																																																	1	Substitution - coding silent(1)	ovary(1)											34	42	39					2																	181846835		2202	4279	6481	SO:0001819	synonymous_variant	0			AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"Ubiquitin-conjugating enzymes E2"	12479	protein-coding gene	gene with protein product		604151	"ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.66G>A	2.37:g.181846835G>A			B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.A22	ENST00000410062.4	37	c.66	CCDS2282.1	2																																																																																			UBE2E3	-	NULL	ENSG00000170035		0.493	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E3	HGNC	protein_coding	OTTHUMT00000255795.6	-	0	46	0	G	NM_006357		181846835	1	tier1	-	no_errors	ENST00000392415	ensembl	human	known	74_37	silent	44.74	21	17	SNP	0.007	A	A	181846835	G	A	181846835	2	1	184	1	0	0	0	0	0	0	0	1	16903	1103	39	1		1	UBE2E3	2	181846835	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1000134	181846835	61352538	89	45766											
PGAP1	80055	genome.wustl.edu	37	chr2	197777708	197777708	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatttttcagtgtaagcaAtgctcttgcaacaaggccac	14	11	7	9	0	2	0	1	0	1	0	2	0	2	0	1	1	4	4	1	1	6	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:197777708A>G	ENST00000354764.4	-	4	661	c.547T>C	c.(547-549)Ttg>Ctg	p.L183L	PGAP1_ENST00000409475.1_Silent_p.L183L|PGAP1_ENST00000409188.1_Silent_p.L141L|PGAP1_ENST00000485830.1_5'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	183					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						AGTGTAAGCAATGCTCTTGCA	0.373																																																	0													109	107	107					2																	197777708		2203	4300	6503	SO:0001819	synonymous_variant	0				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.547T>C	2.37:g.197777708A>G			Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	pfam_PGAP1-like	p.L183	ENST00000354764.4	37	c.547	CCDS2318.1	2																																																																																			PGAP1	-	pfam_PGAP1-like	ENSG00000197121		0.373	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	-	0	44	0	A	NM_024989		197777708	-1	tier1	-	no_errors	ENST00000354764	ensembl	human	known	74_37	silent	33.33	36	18	SNP	0.981	G	G	197777708	A	G	197777708	2	3	184	1	0	0	0	0	0	0	0	1	11816	98	4	4		4	PGAP1	2	197777708	Silent	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	15930873	197777708	45421665	90	45767											
ADAM23	8745	genome.wustl.edu	37	chr2	207346014	207346014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcggctccaaattcattcTtgacctcatactgaacaagt	11	13	5	12	1	3	2	2	2	1	0	5	2	4	2	2	1	2	1	2	1	4	5	rs111649087		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:207346014T>C	ENST00000264377.3	+	3	819	c.491T>C	c.(490-492)cTt>cCt	p.L164P	ADAM23_ENST00000374415.3_Missense_Mutation_p.L164P|ADAM23_ENST00000374416.1_Missense_Mutation_p.L164P	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	164					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)		AAATTCATTCTTGACCTCATA	0.373																																					Melanoma(194;1127 2130 19620 24042 27855)												0													57	58	57					2																	207346014		2203	4300	6503	SO:0001583	missense	0			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.491T>C	2.37:g.207346014T>C	ENSP00000264377:p.Leu164Pro		A2RU59	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.L164P	ENST00000264377.3	37	c.491	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138897	0.56936	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.22336	1.96;1.96;1.96	5.04	5.04	0.67666	Peptidase M12B, propeptide (1);	0.000000	0.48767	D	0.000178	T	0.42944	0.1225	M	0.90705	3.14	0.80722	D	1	B	0.26635	0.155	B	0.40038	0.317	T	0.50432	-0.8829	10	0.87932	D	0	.	14.0463	0.64706	0.0:0.0:0.0:1.0	.	164	O75077	ADA23_HUMAN	P	164;164;58;164	ENSP00000264377:L164P;ENSP00000363537:L164P;ENSP00000363536:L164P	ENSP00000264377:L164P	L	+	2	0	ADAM23	207054259	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.454000	0.73493	2.016000	0.59253	0.528000	0.53228	CTT	ADAM23	-	pfam_Peptidase_M12B_N	ENSG00000114948		0.373	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	-	0	44	0	T	NM_003812		207346014	1	tier1	rs111649087	no_errors	ENST00000264377	ensembl	human	known	74_37	missense	33.33	34	17	SNP	1.000	C	C	207346014	T	C	207346014	3	2	184	1	0	0	0	0	1	0	0	0	245	1609	56	4	501	4	ADAM23	2	207346014	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	9568306	207346014	35853359	91	45768											
STK36	27148	genome.wustl.edu	37	chr2	219557016	219557016	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtccacactccccaaGgtaaccagagtggagaaggg	11	6	11	13	0	0	2	0	0	0	2	3	3	3	2	5	3	1	1	5	3	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:219557016G>T	ENST00000295709.3	+	15	2194	c.1915G>T	c.(1915-1917)Gga>Tga	p.G639*	STK36_ENST00000392106.2_Splice_Site_p.G639*|STK36_ENST00000440309.1_Splice_Site_p.G639*|STK36_ENST00000392105.3_Splice_Site_p.G639*	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CACTCCCCAAGGTAACCAGAG	0.517																																																	0													68	75	72					2																	219557016		2203	4300	6503	SO:0001630	splice_region_variant	0			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1915+1G>T	2.37:g.219557016G>T				Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G639*	ENST00000295709.3	37	c.1915	CCDS2421.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.907288	0.97093	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	.	.	.	4.72	4.72	0.59763	.	0.000000	0.41605	D	0.000856	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-7.7601	14.9794	0.71301	0.0:0.0:1.0:0.0	.	.	.	.	X	639	.	ENSP00000295709:G639X	G	+	1	0	STK36	219265260	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	5.009000	0.63998	2.446000	0.82766	0.561000	0.74099	GGA	STK36	-	superfamily_ARM-type_fold	ENSG00000163482		0.517	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	HGNC	protein_coding	OTTHUMT00000256723.2	-	0	19	0	G		Nonsense_Mutation	219557016	1	tier1	-	no_errors	ENST00000295709	ensembl	human	known	74_37	nonsense	62.50	6	10	SNP	1.000	T	T	219557016	G	T	219557016	5	4	184	1	0	0	0	0	0	0	1	0	15349	1014	35	3	1969	3	STK36	2	219557016	Splice_Site	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	12211002	219557016	23642357	92	45769											
CCDC108	255101	genome.wustl.edu	37	chr2	219870902	219870902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtctgcagtttccagctgGcaggccggctgacagactgc	6	8	15	12	1	1	2	0	1	1	1	2	2	2	2	2	4	3	5	2	4	0	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:219870902G>A	ENST00000341552.5	-	31	4846	c.4763C>T	c.(4762-4764)gCc>gTc	p.A1588V	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.A1588V|CCDC108_ENST00000441968.1_Missense_Mutation_p.A1588V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1588						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)		TTTCCAGCTGGCAGGCCGGCT	0.617																																																	0													59	67	64					2																	219870902		2203	4300	6503	SO:0001583	missense	0			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.4763C>T	2.37:g.219870902G>A	ENSP00000340776:p.Ala1588Val		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_MSP_dom	p.A1588V	ENST00000341552.5	37	c.4763	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	G	8.270	0.813178	0.16537	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05717	3.4;3.4;3.4	5.56	3.43	0.39272	.	0.496676	0.16965	N	0.192346	T	0.06325	0.0163	L	0.43152	1.355	0.58432	D	0.999998	B	0.17667	0.023	B	0.16289	0.015	T	0.22138	-1.0225	10	0.34782	T	0.22	-10.5128	7.9139	0.29806	0.2574:0.0:0.7426:0.0	.	1588	Q6ZU64	CC108_HUMAN	V	1588	ENSP00000340776:A1588V;ENSP00000413377:A1588V;ENSP00000409117:A1588V	ENSP00000340776:A1588V	A	-	2	0	CCDC108	219579146	0.938000	0.31826	0.859000	0.33776	0.124000	0.20399	1.490000	0.35573	1.350000	0.45770	-0.150000	0.13652	GCC	CCDC108	-	NULL	ENSG00000181378		0.617	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	-	0	44	0	G	NM_194302		219870902	-1	tier1	-	no_errors	ENST00000341552	ensembl	human	known	74_37	missense	40.00	21	14	SNP	0.814	A	A	219870902	G	A	219870902	3	1	184	1	0	0	0	0	1	0	0	0	2750	1203	42	3	1034	3	CCDC108	2	219870902	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	313886	219870902	23328471	93	45770											
INHA	3623	genome.wustl.edu	37	chr2	220437184	220437184	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctggcccgggaacttgttCtggccaaggtgagggccctg	6	8	16	11	1	1	1	0	1	1	0	1	2	1	2	3	5	2	2	3	5	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:220437184C>G	ENST00000243786.2	+	1	268	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V	OBSL1_ENST00000373873.4_5'Flank|OBSL1_ENST00000289656.3_5'Flank|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000265318.4_5'Flank|OBSL1_ENST00000373876.1_5'Flank|OBSL1_ENST00000603926.1_5'Flank|OBSL1_ENST00000404537.1_5'Flank|OBSL1_ENST00000491370.1_5'Flank	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	30					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGAACTTGTTCTGGCCAAGGT	0.667											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													36	38	37					2																	220437184		2203	4300	6503	SO:0001583	missense	0				CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.88C>G	2.37:g.220437184C>G	ENSP00000243786:p.Leu30Val	2266	A8K8H5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu	p.L30V	ENST00000243786.2	37	c.88	CCDS2444.1	2	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589115	0.66105	.	.	ENSG00000123999	ENST00000243786	D	0.89746	-2.56	5.52	3.63	0.41609	.	0.076882	0.52532	D	0.000064	D	0.94132	0.8118	M	0.87180	2.865	0.48571	D	0.999673	D	0.76494	0.999	D	0.80764	0.994	D	0.93835	0.7131	10	0.51188	T	0.08	-11.8582	11.2194	0.48846	0.0:0.8427:0.0:0.1573	.	30	P05111	INHA_HUMAN	V	30	ENSP00000243786:L30V	ENSP00000243786:L30V	L	+	1	2	INHA	220145428	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.477000	0.45180	1.257000	0.44085	0.555000	0.69702	CTG	INHA	-	pirsf_Inhibin_asu_subgr	ENSG00000123999		0.667	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHA	HGNC	protein_coding	OTTHUMT00000131425.1	-	0	84	0	C			220437184	1	tier1	-	no_errors	ENST00000243786	ensembl	human	known	74_37	missense	50.68	36	37	SNP	1.000	G	G	220437184	C	G	220437184	3	3	184	1	0	0	0	0	1	0	0	0	7767	912	32	5	90	5	INHA	2	220437184	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	566282	220437184	22762189	94	45771											
STK11IP	114790	genome.wustl.edu	37	chr2	220476466	220476466	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccagccctgtctgccaccctCctggccatggtgaccacctt	5	9	8	19	0	1	1	0	1	1	0	2	1	2	1	8	2	2	0	8	2	0	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:220476466C>G	ENST00000456909.1	+	18	2335	c.2245C>G	c.(2245-2247)Cct>Gct	p.P749A	STK11IP_ENST00000295641.10_Missense_Mutation_p.P760A			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	760					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)		CTGCCACCCTCCTGGCCATGG	0.627																																																	0													44	52	49					2																	220476466		2105	4223	6328	SO:0001583	missense	0			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.2245C>G	2.37:g.220476466C>G	ENSP00000389383:p.Pro749Ala		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	NULL	p.P749A	ENST00000456909.1	37	c.2245		2	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.496338	0.01009	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.04406	3.64;3.63	4.68	-4.27	0.03744	.	1.059070	0.07309	N	0.875413	T	0.03136	0.0092	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48864	-0.8997	10	0.12430	T	0.62	0.2465	6.0755	0.19913	0.0:0.2216:0.265:0.5134	.	760	Q8N1F8	S11IP_HUMAN	A	749;760	ENSP00000389383:P749A;ENSP00000295641:P760A	ENSP00000295641:P760A	P	+	1	0	STK11IP	220184710	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.393000	0.07305	-0.803000	0.04415	-1.102000	0.02115	CCT	STK11IP	-	NULL	ENSG00000144589		0.627	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1	-	0	13	0	C	NM_052902		220476466	1	tier1	-	no_errors	ENST00000456909	ensembl	human	novel	74_37	missense	37.50	10	6	SNP	0.000	G	G	220476466	C	G	220476466	3	3	184	1	0	0	0	0	1	0	0	0	15335	855	30	5	2348	5	STK11IP	2	220476466	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	39282	220476466	22722907	95	45772											
TRIP12	9320	genome.wustl.edu	37	chr2	230744786	230744786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggattgttattaggccGgttggacattggcacctctc	6	13	11	11	1	1	0	0	0	1	0	2	2	1	2	3	5	0	3	3	5	2	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:230744786G>A	ENST00000283943.5	-	2	188	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	TRIP12_ENST00000389044.4_Missense_Mutation_p.R4W|TRIP12_ENST00000389045.3_Missense_Mutation_p.R4W|TRIP12_ENST00000409677.1_Missense_Mutation_p.R4W|TRIP12_ENST00000543084.1_Missense_Mutation_p.R4W	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	4					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)		TTATTAGGCCGGTTGGACATT	0.438																																																	0													114	107	110					2																	230744786		2203	4300	6503	SO:0001583	missense	0			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.10C>T	2.37:g.230744786G>A	ENSP00000283943:p.Arg4Trp		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.R4W	ENST00000283943.5	37	c.10	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.661041	0.96734	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000435716;ENST00000428959;ENST00000430954;ENST00000343290	T;T;T	0.63255	-0.01;0.39;-0.03	5.77	5.77	0.91146	.	0.059994	0.64402	D	0.000002	T	0.70055	0.3180	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71870	0.93;0.952;0.975;0.952	T	0.73379	-0.4001	10	0.87932	D	0	.	19.982	0.97329	0.0:0.0:1.0:0.0	.	4;4;4;4	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	W	4	ENSP00000283943:R4W;ENSP00000373697:R4W;ENSP00000373696:R4W	ENSP00000283943:R4W	R	-	1	2	TRIP12	230453030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.737000	0.93849	0.561000	0.74099	CGG	TRIP12	-	NULL	ENSG00000153827		0.438	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	-	0	27	0	G	NM_004238		230744786	-1	tier1	-	no_errors	ENST00000283943	ensembl	human	known	74_37	missense	46.15	21	18	SNP	1.000	A	A	230744786	G	A	230744786	3	1	184	1	0	0	0	0	1	0	0	0	16604	1115	39	1	6128	1	TRIP12	2	230744786	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	10268320	230744786	12454587	96	45773											
COL6A3	1293	genome.wustl.edu	37	chr2	238261195	238261195	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatgccttgttctcctatCagccctggaggaccagcagg	9	9	11	12	0	2	0	1	0	1	0	3	3	2	2	4	3	3	2	4	3	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr2:238261195C>G	ENST00000295550.4	-	26	7175	c.6723G>C	c.(6721-6723)ctG>ctC	p.L2241L	COL6A3_ENST00000472056.1_Silent_p.L1634L|COL6A3_ENST00000347401.3_Silent_p.L2040L|COL6A3_ENST00000409809.1_Silent_p.L2035L|COL6A3_ENST00000346358.4_Silent_p.L2041L|COL6A3_ENST00000353578.4_Silent_p.L2035L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2241	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)		GTTCTCCTATCAGCCCTGGAG	0.552																																																	0													81	67	71					2																	238261195		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6723G>C	2.37:g.238261195C>G			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.L2241	ENST00000295550.4	37	c.6723	CCDS33412.1	2																																																																																			COL6A3	-	NULL	ENSG00000163359		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	34	0	C	NM_004369		238261195	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	silent	35.71	18	10	SNP	0.006	G	G	238261195	C	G	238261195	2	3	184	1	0	0	0	0	0	0	0	1	3708	813	29	5		5	COL6A3	2	238261195	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	7516409	238261195	4938178	97	45774											
FANCD2	2177	genome.wustl.edu	37	chr3	10131997	10131997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catacttttgttgttttcttCcgtgtgatgatggctgaact	6	19	9	7	1	1	3	0	3	1	0	2	3	2	3	1	1	2	3	1	1	2	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:10131997C>T	ENST00000419585.1	+	37	3866	c.3705C>T	c.(3703-3705)ttC>ttT	p.F1235F	FANCD2_ENST00000287647.3_Silent_p.F1235F|FANCD2_ENST00000383807.1_Silent_p.F1235F|FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1235					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)		TTGTTTTCTTCCGTGTGATGA	0.463			"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													133	95	108					3																	10131997		2203	4300	6503	SO:0001819	synonymous_variant	0	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.3705C>T	3.37:g.10131997C>T			Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	superfamily_ARM-type_fold	p.F1235	ENST00000419585.1	37	c.3705	CCDS33696.1	3																																																																																			FANCD2	-	NULL	ENSG00000144554		0.463	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	-	0	61	0	C			10131997	1	tier1	-	no_errors	ENST00000287647	ensembl	human	known	74_37	silent	17.86	46	10	SNP	1.000	T	T	10131997	C	T	10131997	2	4	184	1	0	0	0	0	0	0	0	1	5687	854	30	3		3	FANCD2	3	10131997	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09		10131997	187890433	98	45775											
PPARG	5468	genome.wustl.edu	37	chr3	12447448	12447448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggagatctccagtgatatCgaccagctgaatccagagtc	11	8	11	11	2	1	4	0	2	1	2	5	6	2	4	3	1	1	1	3	1	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:12447448C>T	ENST00000287820.6	+	5	808	c.687C>T	c.(685-687)atC>atT	p.I229I	PPARG_ENST00000397010.2_Silent_p.I201I|PPARG_ENST00000397000.1_Silent_p.I201I|PPARG_ENST00000539812.1_Silent_p.I199I|PPARG_ENST00000397012.2_Silent_p.I201I|PPARG_ENST00000397015.2_Silent_p.I201I|PPARG_ENST00000397026.2_Silent_p.I207I|PPARG_ENST00000309576.6_Silent_p.I201I	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	229	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CCAGTGATATCGACCAGCTGA	0.527			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																																	Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	0													80	78	79					3																	12447448		2203	4300	6503	SO:0001819	synonymous_variant	0			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.687C>T	3.37:g.12447448C>T			A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.I229	ENST00000287820.6	37	c.687	CCDS2609.1	3																																																																																			PPARG	-	prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G	ENSG00000132170		0.527	PPARG-002	KNOWN	basic|CCDS	protein_coding	PPARG	HGNC	protein_coding	OTTHUMT00000251979.2	-	0	28	0	C	NM_005037		12447448	1	tier1	-	no_errors	ENST00000287820	ensembl	human	known	74_37	silent	30.23	30	13	SNP	1.000	T	T	12447448	C	T	12447448	2	4	184	1	0	0	0	0	0	0	0	1	12338	874	31	1		1	PPARG	3	12447448	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2315451	12447448	185574982	99	45776											
OXSR1	9943	genome.wustl.edu	37	chr3	38240282	38240282	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtggagtcctagatgaatCtaccattgctacgatactcc	12	11	8	10	1	1	2	0	1	1	1	3	4	3	3	3	1	4	1	3	1	6	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:38240282C>G	ENST00000446845.1	+	4	734	c.362C>G	c.(361-363)tCt>tGt	p.S121C	OXSR1_ENST00000311806.3_Missense_Mutation_p.S121C					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTAGATGAATCTACCATTGCT	0.373																																																	0													155	146	149					3																	38240282		2203	4300	6503	SO:0001583	missense	0			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.362C>G	3.37:g.38240282C>G	ENSP00000415851:p.Ser121Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S121C	ENST00000446845.1	37	c.362		3	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282050	0.80692	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.66460	-0.21;-0.21	4.43	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);	0.529047	0.21001	N	0.081867	T	0.74876	0.3774	M	0.70108	2.13	0.34348	D	0.689487	P;B	0.37207	0.587;0.282	P;B	0.47162	0.54;0.378	D	0.84171	0.0434	10	0.62326	D	0.03	0.2004	16.4269	0.83817	0.0:1.0:0.0:0.0	.	121;121	C9JIG9;O95747	.;OXSR1_HUMAN	C	121	ENSP00000415851:S121C;ENSP00000311713:S121C	ENSP00000311713:S121C	S	+	2	0	OXSR1	38215286	0.776000	0.28616	0.394000	0.26270	0.991000	0.79684	7.180000	0.77674	2.173000	0.68751	0.563000	0.77884	TCT	OXSR1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000172939		0.373	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	OXSR1	HGNC	protein_coding	OTTHUMT00000342708.1	-	0	94	0	C	NM_005109		38240282	1	tier1	-	no_errors	ENST00000311806	ensembl	human	known	74_37	missense	29.69	45	19	SNP	0.956	G	G	38240282	C	G	38240282	3	3	184	1	0	0	0	0	1	0	0	0	11375	913	32	5	376	5	OXSR1	3	38240282	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	25792834	38240282	159782148	100	45777											
CCDC13	152206	genome.wustl.edu	37	chr3	42799748	42799748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttccctctttttctcCatctgcttctgtaaccgttt	3	22	3	13	1	5	0	0	0	5	0	7	0	6	0	3	0	2	3	3	0	1	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:42799748C>T	ENST00000310232.6	-	2	173	c.90G>A	c.(88-90)atG>atA	p.M30I	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	30										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCTTTTTCTCCATCTGCTTCT	0.532																																																	0													248	196	214					3																	42799748		2203	4300	6503	SO:0001583	missense	0			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.90G>A	3.37:g.42799748C>T	ENSP00000309836:p.Met30Ile			Missense_Mutation	SNP	superfamily_Prefoldin	p.M30I	ENST00000310232.6	37	c.90	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074635	0.36566	.	.	ENSG00000244607	ENST00000310232	T	0.25085	1.82	4.61	3.74	0.42951	.	0.206644	0.49916	D	0.000135	T	0.25494	0.0620	M	0.72479	2.2	0.80722	D	1	B;B;B	0.33807	0.426;0.206;0.206	B;B;B	0.28305	0.088;0.052;0.085	T	0.05178	-1.0901	10	0.40728	T	0.16	.	10.2703	0.43479	0.0:0.9034:0.0:0.0966	.	30;30;30	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	I	30	ENSP00000309836:M30I	ENSP00000309836:M30I	M	-	3	0	CCDC13	42774752	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	3.350000	0.52224	1.152000	0.42452	0.563000	0.77884	ATG	CCDC13	-	NULL	ENSG00000244607		0.532	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	-	0	55	0	C	NM_144719		42799748	-1	tier1	-	no_errors	ENST00000310232	ensembl	human	known	74_37	missense	34.55	36	19	SNP	1.000	T	T	42799748	C	T	42799748	3	4	184	1	0	0	0	0	1	0	0	0	2772	594	21	3	2117	3	CCDC13	3	42799748	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	4559466	42799748	155222682	101	45778											
RBM6	10180	genome.wustl.edu	37	chr3	50085751	50085751	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggatttttggtactgcaaacGagtaagtaccaagaatccct	13	11	9	8	1	0	1	0	0	0	1	1	3	1	2	2	2	4	4	2	2	6	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:50085751G>C	ENST00000266022.4	+	7	1890	c.1631G>C	c.(1630-1632)cGa>cCa	p.R544P	RBM6_ENST00000422955.1_Splice_Site_p.R22P|RBM6_ENST00000443081.1_Splice_Site_p.R412P|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Splice_Site_p.R22P	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	544					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)		TACTGCAAACGAGTAAGTACC	0.428																																																	0													81	76	78					3																	50085751		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1632+1G>C	3.37:g.50085751G>C			O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.R544P	ENST00000266022.4	37	c.1631	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546548	0.45383	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000422955;ENST00000446471	T;T;T;T;D	0.83755	0.58;1.45;1.46;0.58;-1.76	5.62	4.75	0.60458	.	0.818803	0.11171	N	0.592060	T	0.72763	0.3501	L	0.29908	0.895	0.80722	D	1	B;P	0.35872	0.123;0.525	B;B	0.33042	0.094;0.157	T	0.64639	-0.6360	9	.	.	.	-1.499	9.8006	0.40761	0.1579:0.0:0.8421:0.0	.	412;544	E9PGM9;P78332	.;RBM6_HUMAN	P	22;544;412;22;22	ENSP00000393530:R22P;ENSP00000266022:R544P;ENSP00000396466:R412P;ENSP00000392939:R22P;ENSP00000394336:R22P	.	R	+	2	0	RBM6	50060755	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.235000	0.43044	1.388000	0.46506	0.650000	0.86243	CGA	RBM6	-	NULL	ENSG00000004534		0.428	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	-	0	55	0	G	NM_005777	Missense_Mutation	50085751	1	tier1	-	no_errors	ENST00000266022	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	C	C	50085751	G	C	50085751	5	2	184	1	0	0	0	0	0	0	1	0	13189	1072	37	5	1653	5	RBM6	3	50085751	Splice_Site	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	7286003	50085751	147936679	102	45779											
RBM6	10180	genome.wustl.edu	37	chr3	50106179	50106179	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggagctagcctatctGgaaaggagagaacgagaggt	14	5	16	6	1	1	2	0	0	1	2	1	8	1	5	1	4	4	2	1	4	4	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:50106179G>C	ENST00000266022.4	+	18	3259	c.3000G>C	c.(2998-3000)ctG>ctC	p.L1000L	RBM6_ENST00000422955.1_Silent_p.L478L|RBM6_ENST00000443081.1_Silent_p.L868L|RBM6_ENST00000539992.1_Silent_p.L342L|RBM6_ENST00000442092.1_Silent_p.L478L|RBM6_ENST00000421682.1_5'UTR	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	1000					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)		TAGCCTATCTGGAAAGGAGAG	0.433																																																	0													103	101	101					3																	50106179		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3000G>C	3.37:g.50106179G>C			O60549|O75524|Q86SS3	Silent	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.L1000	ENST00000266022.4	37	c.3000	CCDS2809.1	3																																																																																			RBM6	-	NULL	ENSG00000004534		0.433	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	-	0	141	0	G	NM_005777		50106179	1	tier1	-	no_errors	ENST00000266022	ensembl	human	known	74_37	silent	21.14	97	26	SNP	1.000	C	C	50106179	G	C	50106179	2	2	184	1	0	0	0	0	0	0	0	1	13189	1335	47	5		5	RBM6	3	50106179	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	20428	50106179	147916251	103	45780											
IL17RB	55540	genome.wustl.edu	37	chr3	53886917	53886917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggacattttcctacatcgGcttccctgtagagctgaaca	9	12	9	11	1	0	2	0	1	0	1	3	3	2	3	2	2	3	3	2	2	3	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:53886917G>A	ENST00000288167.3	+	5	383	c.374G>A	c.(373-375)gGc>gAc	p.G125D		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	125					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)		TCCTACATCGGCTTCCCTGTA	0.423																																																	0													120	103	109					3																	53886917		2203	4300	6503	SO:0001583	missense	0			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.374G>A	3.37:g.53886917G>A	ENSP00000288167:p.Gly125Asp		Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	pfam_SEFIR	p.G125D	ENST00000288167.3	37	c.374	CCDS2874.1	3	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137590	0.37728	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.25414	1.8;1.8	6.07	6.07	0.98685	.	0.073367	0.53938	D	0.000057	T	0.47414	0.1444	M	0.65975	2.015	0.43693	D	0.996142	D	0.89917	1.0	D	0.91635	0.999	T	0.17653	-1.0362	10	0.13470	T	0.59	-22.7532	16.144	0.81551	0.0:0.0:1.0:0.0	.	125	Q9NRM6	I17RB_HUMAN	D	125	ENSP00000288167:G125D;ENSP00000418638:G125D	ENSP00000288167:G125D	G	+	2	0	IL17RB	53861957	1.000000	0.71417	0.996000	0.52242	0.176000	0.22953	4.848000	0.62874	2.884000	0.98904	0.655000	0.94253	GGC	IL17RB	-	NULL	ENSG00000056736		0.423	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RB	HGNC	protein_coding	OTTHUMT00000350563.1	-	0	74	0	G	NM_172234		53886917	1	tier1	-	no_errors	ENST00000288167	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A	A	53886917	G	A	53886917	3	1	184	1	0	0	0	0	1	0	0	0	7667	1203	42	3	392	3	IL17RB	3	53886917	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3780738	53886917	144135513	104	45781											
ERC2	26059	genome.wustl.edu	37	chr3	55733455	55733455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgacctcccaggagatCgatggtggtggtgatggtgg	6	10	18	7	2	0	2	0	1	0	1	2	5	1	2	2	6	1	1	2	6	0	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:55733455C>A	ENST00000288221.6	-	16	3053	c.2798G>T	c.(2797-2799)cGa>cTa	p.R933L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	933						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.R933Q(2)		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)		CCCAGGAGATCgatggtggtg	0.493																																																	2	Substitution - Missense(2)	endometrium(2)											237	245	242					3																	55733455		2070	4209	6279	SO:0001583	missense	0			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.2798G>T	3.37:g.55733455C>A	ENSP00000288221:p.Arg933Leu		Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.R933L	ENST00000288221.6	37	c.2798	CCDS46851.1	3	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322428	0.60634	.	.	ENSG00000187672	ENST00000288221	T	0.30714	1.52	5.66	5.66	0.87406	.	0.210236	0.41823	D	0.000813	T	0.17238	0.0414	N	0.08118	0	0.45607	D	0.998549	P	0.38827	0.649	B	0.29077	0.098	T	0.06127	-1.0844	10	0.35671	T	0.21	-7.634	20.1253	0.97977	0.0:1.0:0.0:0.0	.	933	O15083	ERC2_HUMAN	L	933	ENSP00000288221:R933L	ENSP00000288221:R933L	R	-	2	0	ERC2	55708495	0.876000	0.30132	0.998000	0.56505	0.980000	0.70556	2.720000	0.47252	2.832000	0.97577	0.655000	0.94253	CGA	ERC2	-	NULL	ENSG00000187672		0.493	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2		0	43	0	C	NM_015576		55733455	-1			no_errors	ENST00000288221	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	A	A	55733455	C	A	55733455	3	1	184	1	0	0	0	0	1	0	0	0	5227	884	31	2	83	2	ERC2	3	55733455	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1846538	55733455	142288975	105	45782											
TOMM70A	9868	genome.wustl.edu	37	chr3	100086940	100086940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaaaatcacatttattgtCaatttcaatagccttgctga	13	14	6	8	0	3	1	3	1	0	0	3	1	3	1	1	1	2	2	1	1	6	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:100086940C>G	ENST00000284320.5	-	11	2069	c.1621G>C	c.(1621-1623)Gac>Cac	p.D541H		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	541					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CATTTATTGTCAATTTCAATA	0.358																																																	0													120	115	117					3																	100086940		2203	4300	6503	SO:0001583	missense	0			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"Tetratricopeptide (TTC) repeat domain containing"	11985	protein-coding gene	gene with protein product		606081	"translocase of outer mitochondrial membrane 70 (yeast) homolog A", "translocase of outer mitochondrial membrane 70 homolog A (yeast)"			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1621G>C	3.37:g.100086940C>G	ENSP00000284320:p.Asp541His		D3DN48	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D541H	ENST00000284320.5	37	c.1621	CCDS33807.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898062	0.91962	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.65178	-0.14	5.88	5.88	0.94601	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88346	0.2978	10	0.87932	D	0	-20.9086	20.2279	0.98344	0.0:1.0:0.0:0.0	.	541	O94826	TOM70_HUMAN	H	541;434	ENSP00000284320:D541H	ENSP00000284320:D541H	D	-	1	0	TOMM70A	101569630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.778000	0.95560	0.655000	0.94253	GAC	TOMM70A	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000154174		0.358	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM70A	HGNC	protein_coding	OTTHUMT00000353141.2	-	0	37	0	C			100086940	-1	tier1	-	no_errors	ENST00000284320	ensembl	human	known	74_37	missense	36.96	29	17	SNP	1.000	G	G	100086940	C	G	100086940	3	3	184	1	0	0	0	0	1	0	0	0	16410	826	29	5	213	5	TOMM70A	3	100086940	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	44353485	100086940	97935490	106	45783											
TMPRSS7	344805	genome.wustl.edu	37	chr3	111799855	111799855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacatggaagtggacgacCaaactttcctggtgtttaca	11	10	12	8	1	0	0	0	0	0	0	1	4	1	3	2	4	2	1	2	4	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:111799855C>G	ENST00000452346.2	+	18	2459	c.2456C>G	c.(2455-2457)cCa>cGa	p.P819R	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.P693R			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	819	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGTGGACGACCAAACTTTCCT	0.408																																																	0													231	230	231					3																	111799855		1993	4173	6166	SO:0001583	missense	0			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2456C>G	3.37:g.111799855C>G	ENSP00000398236:p.Pro819Arg		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.P693R	ENST00000452346.2	37	c.2078		3	.	.	.	.	.	.	.	.	.	.	C	9.710	1.156910	0.21454	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.88975	-2.45;-2.45	5.75	4.88	0.63580	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.121201	0.56097	N	0.000030	D	0.90263	0.6955	L	0.52011	1.625	0.48135	D	0.999592	D;D	0.60575	0.983;0.988	P;P	0.61800	0.867;0.894	D	0.87222	0.2254	10	0.06236	T	0.91	.	15.9464	0.79796	0.0:0.8645:0.1355:0.0	.	819;693	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	R	819;807;793;693	ENSP00000398236:P819R;ENSP00000411645:P693R	ENSP00000411645:P693R	P	+	2	0	TMPRSS7	113282545	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.396000	0.66297	1.456000	0.47831	-0.133000	0.14855	CCA	TMPRSS7	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000176040		0.408	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	-	0	67	0	C	XM_293599		111799855	1	tier1	-	no_errors	ENST00000419127	ensembl	human	known	74_37	missense	7.79	71	6	SNP	1.000	G	G	111799855	C	G	111799855	3	3	184	1	0	0	0	0	1	0	0	0	16299	594	21	5	2136	5	TMPRSS7	3	111799855	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	11712915	111799855	86222575	107	45784											
C3orf30	152405	genome.wustl.edu	37	chr3	118865898	118865898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctgacccaggaacttctGagcagactgacctcagattg	10	9	11	11	0	2	5	1	3	1	2	2	6	2	6	2	2	2	2	2	2	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:118865898G>C	ENST00000295622.1	+	1	902	c.862G>C	c.(862-864)Gag>Cag	p.E288Q	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	288										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGGAACTTCTGAGCAGACTGA	0.493																																																	0													77	75	76					3																	118865898		2203	4300	6503	SO:0001583	missense	0			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.862G>C	3.37:g.118865898G>C	ENSP00000295622:p.Glu288Gln		A1L4B7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.E288Q	ENST00000295622.1	37	c.862	CCDS2984.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.08|14.08	2.428194|2.428194	0.43122|0.43122	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150;ENST00000473121;ENST00000492792	T|.	0.12361|.	2.69|.	4.13|4.13	3.21|3.21	0.36854|0.36854	.|.	0.665339|.	0.13221|.	N|.	0.404360|.	T|.	0.50684|.	0.1630|.	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	P;P|.	0.51537|.	0.851;0.946|.	P;P|.	0.47402|.	0.546;0.521|.	T|.	0.40289|.	-0.9571|.	10|.	0.33940|.	T|.	0.23|.	-1.8723|-1.8723	11.8312|11.8312	0.52297|0.52297	0.0:0.1791:0.8209:0.0|0.0:0.1791:0.8209:0.0	.|.	288;288|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	Q|S	288|251;80;22	ENSP00000295622:E288Q|.	ENSP00000295622:E288Q|.	E|X	+|+	1|2	0|2	C3orf30|C3orf30	120348588|120348588	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.003000|0.003000	0.03518|0.03518	0.647000|0.647000	0.24812|0.24812	1.256000|1.256000	0.44068|0.44068	0.591000|0.591000	0.81541|0.81541	GAG|TGA	C3orf30	-	NULL	ENSG00000163424		0.493	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf30	HGNC	protein_coding	OTTHUMT00000354838.1	-	0	41	0	G	NM_152539		118865898	1	tier1	-	no_errors	ENST00000295622	ensembl	human	known	74_37	missense	50.94	26	27	SNP	0.009	C	C	118865898	G	C	118865898	3	2	184	1	0	0	0	0	1	0	0	0	2227	1291	45	5	864	5	C3orf30	3	118865898	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	7066043	118865898	79156532	108	45785											
GPR156	165829	genome.wustl.edu	37	chr3	119886160	119886160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccacagctgccactgttCaggcaagtcaggtgaggctt	8	8	14	11	0	2	1	2	1	0	0	2	1	2	1	2	4	2	4	2	4	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:119886160C>T	ENST00000464295.1	-	10	2609	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K	GPR156_ENST00000315843.3_Missense_Mutation_p.E722K|GPR156_ENST00000461057.1_Missense_Mutation_p.E718K			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	722						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGCCACTGTTCAGGCAAGTCA	0.577																																																	0													42	46	45					3																	119886160		2202	4300	6502	SO:0001583	missense	0			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2164G>A	3.37:g.119886160C>T	ENSP00000417261:p.Glu722Lys		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.E722K	ENST00000464295.1	37	c.2164	CCDS2997.1	3	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428929	0.25726	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.22336	1.96;1.96;1.96	4.57	2.76	0.32466	.	0.913779	0.09415	N	0.805226	T	0.17365	0.0417	L	0.43152	1.355	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.30238	-0.9985	9	.	.	.	-0.2943	6.8559	0.24040	0.0:0.6857:0.1448:0.1695	.	718;722	E9PFZ4;Q8NFN8	.;GP156_HUMAN	K	722;722;718	ENSP00000417261:E722K;ENSP00000324553:E722K;ENSP00000418758:E718K	.	E	-	1	0	GPR156	121368850	0.150000	0.22732	0.001000	0.08648	0.036000	0.12997	1.271000	0.33098	0.650000	0.30769	0.462000	0.41574	GAA	GPR156	-	NULL	ENSG00000175697		0.577	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	-	0	34	0	C	NM_153002		119886160	-1	tier1	-	no_errors	ENST00000315843	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	T	T	119886160	C	T	119886160	3	4	184	1	0	0	0	0	1	0	0	0	6687	835	29	3	284	3	GPR156	3	119886160	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1020262	119886160	78136270	109	45786											
STXBP5L	9515	genome.wustl.edu	37	chr3	120957831	120957831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctattagttttccaatctttGaaaatccatatcccatggac	12	15	4	10	0	1	1	0	1	1	0	4	2	4	2	3	1	0	1	3	1	6	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:120957831G>A	ENST00000273666.6	+	13	1469	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	STXBP5L_ENST00000492541.1_Missense_Mutation_p.E400K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E400K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E400K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E400K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	400					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)		TCCAATCTTTGAAAATCCATA	0.313																																																	0													50	46	47					3																	120957831		1817	4077	5894	SO:0001583	missense	0			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.1198G>A	3.37:g.120957831G>A	ENSP00000273666:p.Glu400Lys		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.E400K	ENST00000273666.6	37	c.1198	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806031	0.90623	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.61627	1.87;0.09;0.09;1.19;0.09;0.09	4.97	4.97	0.65823	WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	L	0.58810	1.83	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.69000	-0.5261	10	0.31617	T	0.26	-39.6187	18.4118	0.90554	0.0:0.0:1.0:0.0	.	400;400	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	K	400	ENSP00000273666:E400K;ENSP00000420019:E400K;ENSP00000419627:E400K;ENSP00000420287:E400K;ENSP00000420666:E400K;ENSP00000420167:E400K	ENSP00000273666:E400K	E	+	1	0	STXBP5L	122440521	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.604000	0.98317	2.582000	0.87167	0.655000	0.94253	GAA	STXBP5L	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000145087		0.313	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	-	0	62	0	G			120957831	1	tier1	-	no_errors	ENST00000273666	ensembl	human	known	74_37	missense	23.81	64	20	SNP	1.000	A	A	120957831	G	A	120957831	3	1	184	1	0	0	0	0	1	0	0	0	15404	1291	45	3	1244	3	STXBP5L	3	120957831	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1071671	120957831	77064599	110	45787											
POLQ	10721	genome.wustl.edu	37	chr3	121207808	121207808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctctgactgagtatccaGatagaaactatcttcaaaat	14	14	5	8	0	3	4	1	2	2	2	5	4	4	4	1	0	1	1	1	0	6	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:121207808G>C	ENST00000264233.5	-	16	4098	c.3970C>G	c.(3970-3972)Ctg>Gtg	p.L1324V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1324					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)		TGAGTATCCAGATAGAAACTA	0.363								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													138	127	131					3																	121207808		2203	4300	6503	SO:0001583	missense	0			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.3970C>G	3.37:g.121207808G>C	ENSP00000264233:p.Leu1324Val		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.L1324V	ENST00000264233.5	37	c.3970	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291825	0.59976	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.69040	-0.37	6.11	3.36	0.38483	.	0.172077	0.38663	N	0.001620	T	0.71126	0.3303	L	0.36672	1.1	0.28381	N	0.919547	D;D	0.89917	0.999;1.0	D;D	0.85130	0.918;0.997	T	0.64411	-0.6414	10	0.72032	D	0.01	.	8.8848	0.35396	0.3497:0.0:0.6503:0.0	.	1324;496	O75417;O75417-2	DPOLQ_HUMAN;.	V	947;1324;1460	ENSP00000264233:L1324V	ENSP00000264233:L1324V	L	-	1	2	POLQ	122690498	0.999000	0.42202	0.087000	0.20705	0.971000	0.66376	2.421000	0.44688	0.455000	0.26910	0.655000	0.94253	CTG	POLQ	-	NULL	ENSG00000051341		0.363	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0	50	0	G	NM_199420		121207808	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.977	C	C	121207808	G	C	121207808	3	2	184	1	0	0	0	0	1	0	0	0	12247	933	33	5	3862	5	POLQ	3	121207808	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	249977	121207808	76814622	111	45788											
CASR	846	genome.wustl.edu	37	chr3	122003196	122003196	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcaagtcccggaagctgccgGagaacttcaatgaagccaag	13	6	11	11	2	2	2	2	1	0	1	3	4	3	3	3	2	4	1	3	2	6	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:122003196G>C	ENST00000490131.1	+	7	2767	c.2395G>C	c.(2395-2397)Gag>Cag	p.E799Q	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.E799Q|CASR_ENST00000498619.1_Missense_Mutation_p.E809Q	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	799					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAAGCTGCCGGAGAACTTCAA	0.547																																																	0			GRCh37	CM013357	CASR	M							58	55	56					3																	122003196		2203	4300	6503	SO:0001583	missense	0			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.2395G>C	3.37:g.122003196G>C	ENSP00000418685:p.Glu799Gln		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.E809Q	ENST00000490131.1	37	c.2425	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250061	0.80024	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.88975	-2.45;-2.45;-2.45	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.93962	0.7241	10	0.87932	D	0	.	19.5674	0.95401	0.0:0.0:1.0:0.0	.	809;799	E7ENE0;P41180	.;CASR_HUMAN	Q	799;809;799	ENSP00000418685:E799Q;ENSP00000420194:E809Q;ENSP00000296154:E799Q	ENSP00000296154:E799Q	E	+	1	0	CASR	123485886	1.000000	0.71417	0.974000	0.42286	0.933000	0.57130	8.018000	0.88722	2.873000	0.98535	0.561000	0.74099	GAG	CASR	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000036828		0.547	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	-	0	18	0	G	NM_000388		122003196	1	tier1	-	no_errors	ENST00000498619	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	C	C	122003196	G	C	122003196	3	2	184	1	0	0	0	0	1	0	0	0	2689	1175	41	5	2447	5	CASR	3	122003196	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	795388	122003196	76019234	112	45789											
SEC61A1	29927	genome.wustl.edu	37	chr3	127774404	127774404	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaccgctatcaccctctttAtcttcttagtgtgctgccag	6	14	8	13	1	4	0	1	0	3	0	4	1	4	1	3	1	2	2	3	1	3	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:127774404A>C	ENST00000243253.3	+	3	305	c.121A>C	c.(121-123)Atc>Ctc	p.I41L	SEC61A1_ENST00000464451.1_Missense_Mutation_p.I47L|SEC61A1_ENST00000424880.2_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	41					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CACCCTCTTTATCTTCTTAGT	0.438																																																	0													186	177	180					3																	127774404		2203	4300	6503	SO:0001583	missense	0			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.121A>C	3.37:g.127774404A>C	ENSP00000243253:p.Ile41Leu		P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.I41L	ENST00000243253.3	37	c.121	CCDS3046.1	3	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968512	0.74131	.	.	ENSG00000058262	ENST00000464451;ENST00000243253	.	.	.	5.51	5.51	0.81932	Translocon Sec61/SecY, plug domain (1);SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	L	0.44542	1.39	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.50004	-0.8878	9	0.24483	T	0.36	.	15.6324	0.76920	1.0:0.0:0.0:0.0	.	41	P61619	S61A1_HUMAN	L	47;41	.	ENSP00000243253:I41L	I	+	1	0	SEC61A1	129257094	1.000000	0.71417	0.982000	0.44146	0.891000	0.51852	9.334000	0.96470	2.088000	0.63022	0.528000	0.53228	ATC	SEC61A1	-	pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	ENSG00000058262		0.438	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A1	HGNC	protein_coding	OTTHUMT00000356541.2	-	0	71	0	A	NM_013336		127774404	1	tier1	-	no_errors	ENST00000243253	ensembl	human	known	74_37	missense	15.79	96	18	SNP	1.000	C	C	127774404	A	C	127774404	3	2	184	1	0	0	0	0	1	0	0	0	14045	449	16	4	131	4	SEC61A1	3	127774404	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	5771208	127774404	70248026	113	45790											
ANAPC13	25847	genome.wustl.edu	37	chr3	134201686	134201686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcataaggcagcttgtcttCtcgccaagcatcatcaatca	11	11	6	13	1	6	0	4	0	2	0	7	0	6	0	1	1	2	3	1	1	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:134201686C>G	ENST00000510994.1	-	2	791	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q	CEP63_ENST00000354446.3_5'Flank|ANAPC13_ENST00000514612.1_Missense_Mutation_p.E21Q|CEP63_ENST00000332047.5_5'Flank|ANAPC13_ENST00000354910.5_Missense_Mutation_p.E21Q|ANAPC13_ENST00000511751.1_Missense_Mutation_p.E21Q	NM_001242374.1	NP_001229303.1	Q9BS18	APC13_HUMAN	anaphase promoting complex subunit 13	21					mitotic nuclear division (GO:0007067)|protein K11-linked ubiquitination (GO:0070979)	anaphase-promoting complex (GO:0005680)				lung(1)|skin(1)	2						AGCTTGTCTTCTCGCCAAGCA	0.443																																																	0													326	295	305					3																	134201686		2203	4300	6503	SO:0001583	missense	0			AF086169	CCDS3085.1	3q22.1	2011-06-15				ENSG00000129055		"Anaphase promoting complex subunits"	24540	protein-coding gene	gene with protein product		614484				15060174	Standard	NM_015391		Approved	SWM1, APC13, DKFZP566D193	uc003eqi.3	Q9BS18		ENST00000510994.1:c.61G>C	3.37:g.134201686C>G	ENSP00000421842:p.Glu21Gln		Q9Y3V0	Missense_Mutation	SNP	pfam_Apc13p	p.E21Q	ENST00000510994.1	37	c.61	CCDS3085.1	3	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749853	0.89753	.	.	ENSG00000129055	ENST00000510994;ENST00000354910;ENST00000514612;ENST00000511751	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	U	0.000003	T	0.61862	0.2381	.	.	.	0.80722	D	1	P	0.47841	0.901	P	0.47102	0.537	T	0.60811	-0.7189	8	0.37606	T	0.19	-16.5026	18.9067	0.92466	0.0:1.0:0.0:0.0	.	21	Q9BS18	APC13_HUMAN	Q	21	.	ENSP00000346987:E21Q	E	-	1	0	ANAPC13	135684376	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.663000	0.83820	2.629000	0.89072	0.561000	0.74099	GAA	ANAPC13	-	pfam_Apc13p	ENSG00000129055		0.443	ANAPC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC13	HGNC	protein_coding	OTTHUMT00000357412.1	-	0	56	0	C	NM_015391		134201686	-1	tier1	-	no_errors	ENST00000354910	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	G	G	134201686	C	G	134201686	3	3	184	1	0	0	0	0	1	0	0	0	601	922	32	5	171	5	ANAPC13	3	134201686	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	6427282	134201686	63820744	114	45791											
A4GNT	51146	genome.wustl.edu	37	chr3	137850070	137850070	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacaagcagcaaggtgactGacagggagagctggagctcc	13	4	15	9	0	0	4	0	2	0	2	1	6	1	5	1	3	4	4	1	3	2	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:137850070G>C	ENST00000236709.3	-	2	230	c.29C>G	c.(28-30)tCa>tGa	p.S10*		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	10					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						CAAGGTGACTGACAGGGAGAG	0.502																																																	0													78	76	77					3																	137850070		2203	4300	6503	SO:0001587	stop_gained	0			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.29C>G	3.37:g.137850070G>C	ENSP00000236709:p.Ser10*		Q0VDK1|Q0VDK2	Nonsense_Mutation	SNP	pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS	p.S10*	ENST00000236709.3	37	c.29	CCDS3097.1	3	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280793	0.59758	.	.	ENSG00000118017	ENST00000236709	.	.	.	5.32	-0.884	0.10597	.	1.215830	0.06104	N	0.665942	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.9436	0.24506	0.3723:0.4249:0.2028:0.0	.	.	.	.	X	10	.	ENSP00000236709:S10X	S	-	2	0	A4GNT	139332760	0.001000	0.12720	0.122000	0.21767	0.327000	0.28475	-0.071000	0.11505	-0.257000	0.09459	0.561000	0.74099	TCA	A4GNT	-	NULL	ENSG00000118017		0.502	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A4GNT	HGNC	protein_coding	OTTHUMT00000357557.1	-	0	32	0	G	NM_016161		137850070	-1	tier1	-	no_errors	ENST00000236709	ensembl	human	known	74_37	nonsense	13.95	37	6	SNP	0.012	C	C	137850070	G	C	137850070	4	2	184	1	0	0	0	0	0	1	0	0	7	1294	45	5	1001	5	A4GNT	3	137850070	Nonsense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3648384	137850070	60172360	115	45792											
SR140	23350	genome.wustl.edu	37	chr3	142772588	142772588	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agaaaaattggaatctcgctCcaaagacaagaaggaaaaag	21	5	9	6	1	1	3	0	0	1	3	3	5	2	5	1	2	0	1	1	2	8	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:142772588C>G	ENST00000473835.2	+	26	2816	c.2726C>G	c.(2725-2727)tCc>tGc	p.S909C	U2SURP_ENST00000397933.2_Missense_Mutation_p.S500C|U2SURP_ENST00000493598.2_Missense_Mutation_p.S908C	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	909	Glu-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAATCTCGCTCCAAAGACAAG	0.323																																																	0													81	79	80					3																	142772588		1831	4084	5915	SO:0001583	missense	0			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.2726C>G	3.37:g.142772588C>G	ENSP00000418563:p.Ser909Cys		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom	p.S909C	ENST00000473835.2	37	c.2726	CCDS46928.1	3	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541976	0.65198	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598;ENST00000480029	T;T;T;D	0.97256	2.14;0.92;2.14;-4.31	6.02	6.02	0.97574	.	0.399329	0.30930	N	0.008593	D	0.93083	0.7798	N	0.08118	0	0.54753	D	0.99998	P;B;P	0.47191	0.891;0.264;0.826	B;B;B	0.41946	0.371;0.264;0.205	D	0.94240	0.7484	10	0.87932	D	0	-3.4394	19.1045	0.93287	0.0:1.0:0.0:0.0	.	908;500;909	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	C	909;909;500;908;476	ENSP00000418563:S909C;ENSP00000381027:S500C;ENSP00000422011:S908C;ENSP00000417441:S476C	ENSP00000322376:S909C	S	+	2	0	U2SURP	144255278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.086000	0.57664	2.865000	0.98341	0.655000	0.94253	TCC	U2SURP	-	NULL	ENSG00000163714		0.323	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	-	0	88	0	C	NM_001080415		142772588	1	tier1	-	no_errors	ENST00000473835	ensembl	human	known	74_37	missense	15.08	107	19	SNP	1.000	G	G	142772588	C	G	142772588	3	3	184	1	0	0	0	0	1	0	0	0	15178	855	30	5	2828	5	SR140	3	142772588	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	4922518	142772588	55249842	116	45793											
GFM1	85476	genome.wustl.edu	37	chr3	158363491	158363491	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatacgaaatattggaatctCagctcacattgattctggga	14	12	8	7	1	3	1	2	1	2	0	4	4	3	3	0	2	2	1	0	2	5	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:158363491C>G	ENST00000486715.1	+	2	512	c.155C>G	c.(154-156)tCa>tGa	p.S52*	GFM1_ENST00000478576.1_Nonsense_Mutation_p.S52*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.S52*	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)			ATTGGAATCTCAGCTCACATT	0.388																																																	0													120	119	119					3																	158363491		2203	4300	6503	SO:0001587	stop_gained	0			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.155C>G	3.37:g.158363491C>G	ENSP00000419038:p.Ser52*			Nonsense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.S52*	ENST00000486715.1	37	c.155	CCDS33885.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.288870	0.95517	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-6.5767	19.5841	0.95484	0.0:1.0:0.0:0.0	.	.	.	.	X	52	.	ENSP00000264263:S52X	S	+	2	0	GFM1	159846185	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	7.216000	0.77974	2.604000	0.88044	0.655000	0.94253	TCA	GFM1	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	ENSG00000168827		0.388	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	HGNC	protein_coding	OTTHUMT00000352271.1	-	0	101	0	C	NM_024996		158363491	1	tier1	-	no_errors	ENST00000486715	ensembl	human	known	74_37	nonsense	11.21	103	13	SNP	1.000	G	G	158363491	C	G	158363491	4	3	184	1	0	0	0	0	0	1	0	0	6367	838	29	5	161	5	GFM1	3	158363491	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	15590903	158363491	39658939	117	45794											
SI	6476	genome.wustl.edu	37	chr3	164700087	164700087	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatttccgttatacgttaGagtaactgcattgacaggag	11	15	9	6	2	0	2	0	1	0	1	1	3	1	3	1	1	3	4	1	1	5	8			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:164700087G>A	ENST00000264382.3	-	47	5421	c.5359C>T	c.(5359-5361)Cta>Tta	p.L1787L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1787	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTATACGTTAGAGTAACTGCA	0.343										HNSCC(35;0.089)																																							0													129	123	125					3																	164700087		2203	4299	6502	SO:0001819	synonymous_variant	0			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.5359C>T	3.37:g.164700087G>A			A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.L1787	ENST00000264382.3	37	c.5359	CCDS3196.1	3																																																																																			SI	-	NULL	ENSG00000090402		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	68	0	G	NM_001041		164700087	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	silent	34.69	64	34	SNP	0.000	A	A	164700087	G	A	164700087	2	1	184	1	0	0	0	0	0	0	0	1	14342	933	33	3		3	SI	3	164700087	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	6336596	164700087	33322343	118	45795											
BCHE	590	genome.wustl.edu	37	chr3	165548470	165548470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttagatataaacagtcttCactgaggtcagtgtttgggt	11	15	10	5	0	3	2	2	1	1	1	3	2	3	2	0	2	1	1	0	2	4	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:165548470C>T	ENST00000264381.3	-	2	518	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	118					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AAACAGTCTTCACTGAGGTCA	0.388																																																	0													77	82	80					3																	165548470		2203	4300	6503	SO:0001583	missense	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.352G>A	3.37:g.165548470C>T	ENSP00000264381:p.Glu118Lys		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.E118K	ENST00000264381.3	37	c.352	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744362	0.89663	.	.	ENSG00000114200	ENST00000264381	D	0.86956	-2.19	5.69	5.69	0.88448	Carboxylesterase type B, conserved site (1);Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	H	0.99573	4.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98541	1.0632	10	0.87932	D	0	.	18.7962	0.91995	0.0:1.0:0.0:0.0	.	118	P06276	CHLE_HUMAN	K	118	ENSP00000264381:E118K	ENSP00000264381:E118K	E	-	1	0	BCHE	167031164	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.687000	0.84139	2.671000	0.90904	0.655000	0.94253	GAA	BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	-	0	58	0	C			165548470	-1	tier1	-	no_errors	ENST00000264381	ensembl	human	known	74_37	missense	36.62	45	26	SNP	1.000	T	T	165548470	C	T	165548470	3	4	184	1	0	0	0	0	1	0	0	0	1359	835	29	3	1468	3	BCHE	3	165548470	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	848383	165548470	32473960	119	45796											
MECOM	2122	genome.wustl.edu	37	chr3	169099121	169099121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcgaagttcaaactcagcagGaatggggatatcatcaggga	14	8	12	7	1	4	0	4	0	0	0	5	4	4	3	0	4	2	2	0	4	4	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:169099121G>C	ENST00000494292.1	-	2	326	c.229C>G	c.(229-231)Cct>Gct	p.P77A	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	77					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						AACTCAGCAGGAATGGGGATA	0.478																																																	0													131	123	126					3																	169099121		1858	4103	5961	SO:0001583	missense	0			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	ENST00000494292.1:c.229C>G	3.37:g.169099121G>C	ENSP00000417899:p.Pro77Ala		Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.P77A	ENST00000494292.1	37	c.229		3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475769	0.84640	.	.	ENSG00000085276	ENST00000494292;ENST00000486748	D;T	0.86694	-2.16;0.74	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000010	D	0.93903	0.8049	M	0.81942	2.565	0.80722	D	1	D;P	0.76494	0.999;0.61	D;B	0.68943	0.961;0.271	D	0.93834	0.7130	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	77;77	Q13465;Q03112-3	MDS1_HUMAN;.	A	77;101	ENSP00000417899:P77A;ENSP00000419537:P101A	ENSP00000419537:P101A	P	-	1	0	MECOM	170581815	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.463000	0.97652	2.822000	0.97130	0.650000	0.86243	CCT	MECOM	-	NULL	ENSG00000085276		0.478	MECOM-004	KNOWN	basic|appris_principal	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351517.3	-	0	58	0	G	NM_005241, NM_004991		169099121	-1	tier1	-	no_errors	ENST00000494292	ensembl	human	known	74_37	missense	26.67	44	16	SNP	1.000	C	C	169099121	G	C	169099121	3	2	184	1	0	0	0	0	1	0	0	0	9460	1174	41	5	3564	5	MECOM	3	169099121	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3550651	169099121	28923309	120	45797											
PIK3CA	5290	genome.wustl.edu	37	chr3	178952074	178952074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtatttcatgaaacaaatGaatgatgcacatcatggtgg	15	11	10	5	0	2	3	2	3	0	0	2	4	2	3	0	2	2	2	0	2	4	2	rs121913283		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:178952074G>A	ENST00000263967.3	+	21	3286	c.3129G>A	c.(3127-3129)atG>atA	p.M1043I	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043I(66)		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)	TGAAACAAATGAATGATGCAC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	66	Substitution - Missense(66)	large_intestine(36)|endometrium(11)|breast(6)|urinary_tract(4)|lung(4)|cervix(2)|thyroid(1)|central_nervous_system(1)|ovary(1)											98	88	91					3																	178952074		1907	4120	6027	SO:0001583	missense	0				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.3129G>A	3.37:g.178952074G>A	ENSP00000263967:p.Met1043Ile		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.M1043I	ENST00000263967.3	37	c.3129	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979751	0.53827	.	.	ENSG00000121879	ENST00000263967	T	0.75260	-0.92	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	N	0.00500	-1.43	0.80722	D	1	B	0.25955	0.138	B	0.19666	0.026	T	0.58662	-0.7597	10	0.02654	T	1	-20.5202	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1043	P42336	PK3CA_HUMAN	I	1043	ENSP00000263967:M1043I	ENSP00000263967:M1043I	M	+	3	0	PIK3CA	180434768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	ATG	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	43	0	G			178952074	1	tier1	-	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	36.67	18	11	SNP	1.000	A	A	178952074	G	A	178952074	3	1	184	1	0	0	0	0	1	0	0	0	11952	1290	45	3	3207	3	PIK3CA	3	178952074	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	9852953	178952074	19070356	121	45798											
RTP4	64108	genome.wustl.edu	37	chr3	187089154	187089154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagtcaaatgctttacatCagaatgatgaaaataggctt	15	13	8	5	0	2	3	2	2	0	1	2	3	2	3	0	1	2	3	0	1	7	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:187089154C>T	ENST00000259030.2	+	2	844	c.734C>T	c.(733-735)tCa>tTa	p.S245L		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	245					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TGCTTTACATCAGAATGATGA	0.368																																																	0													44	39	41					3																	187089154		2203	4300	6503	SO:0001583	missense	0			BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"Receptor transporter proteins"	23992	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 4"	609350	"receptor transporter protein 4"			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.734C>T	3.37:g.187089154C>T	ENSP00000259030:p.Ser245Leu		Q9H4F3	Missense_Mutation	SNP	NULL	p.S245L	ENST00000259030.2	37	c.734	CCDS33910.1	3	.	.	.	.	.	.	.	.	.	.	C	4.838	0.155817	0.09236	.	.	ENSG00000136514	ENST00000259030	T	0.20738	2.05	2.87	-5.73	0.02398	.	6.352380	0.00357	N	0.000027	T	0.10852	0.0265	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16453	-1.0402	10	0.72032	D	0.01	.	1.3391	0.02150	0.3863:0.3141:0.1343:0.1654	.	245	Q96DX8	RTP4_HUMAN	L	245	ENSP00000259030:S245L	ENSP00000259030:S245L	S	+	2	0	RTP4	188571848	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.822000	0.00748	-2.723000	0.00388	-1.047000	0.02352	TCA	RTP4	-	NULL	ENSG00000136514		0.368	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP4	HGNC	protein_coding	OTTHUMT00000344260.1	-	0	41	0	C	NM_022147		187089154	1	tier1	-	no_errors	ENST00000259030	ensembl	human	known	74_37	missense	25.93	20	7	SNP	0.000	T	T	187089154	C	T	187089154	3	4	184	1	0	0	0	0	1	0	0	0	13781	838	29	3	740	3	RTP4	3	187089154	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	8137080	187089154	10933276	122	45799											
OPA1	4976	genome.wustl.edu	37	chr3	193409893	193409893	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaacttgatgctttcattGaagctcttcatcaggagaaa	15	12	7	7	0	4	3	3	2	1	1	4	4	4	3	0	1	3	2	0	1	4	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:193409893G>C	ENST00000392438.3	+	28	3094	c.2860G>C	c.(2860-2862)Gaa>Caa	p.E954Q	OPA1_ENST00000361150.2_Missense_Mutation_p.E955Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E973Q|OPA1_ENST00000361510.2_Missense_Mutation_p.E1009Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E972Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E991Q	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	954					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)		TGCTTTCATTGAAGCTCTTCA	0.279																																																	0													19	19	19					3																	193409893		2167	4258	6425	SO:0001583	missense	0			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.2860G>C	3.37:g.193409893G>C	ENSP00000376233:p.Glu954Gln		D3DNW4	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	p.E1009Q	ENST00000392438.3	37	c.3025	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268749	0.40095	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.94897	-3.13;-3.15;-3.13;-3.14;-3.14;-3.55	5.13	5.13	0.70059	.	0.103425	0.64402	D	0.000003	D	0.88440	0.6437	N	0.24115	0.695	0.58432	D	0.999998	B;P;B;B;B;B;B;B	0.37466	0.011;0.596;0.0;0.011;0.0;0.011;0.001;0.0	B;B;B;B;B;B;B;B	0.32211	0.012;0.142;0.001;0.012;0.001;0.01;0.003;0.002	D	0.87367	0.2348	10	0.13853	T	0.58	-19.8934	17.5551	0.87888	0.0:0.0:1.0:0.0	.	918;954;936;955;972;991;973;1009	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Q	991;954;1009;973;972;955	ENSP00000354681:E991Q;ENSP00000376233:E954Q;ENSP00000355324:E1009Q;ENSP00000355311:E973Q;ENSP00000354429:E972Q;ENSP00000354781:E955Q	ENSP00000354781:E955Q	E	+	1	0	OPA1	194892587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.678000	0.84035	2.373000	0.80994	0.650000	0.86243	GAA	OPA1	-	NULL	ENSG00000198836		0.279	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	-	0	153	0	G	NM_130837		193409893	1	tier1	-	no_errors	ENST00000361510	ensembl	human	known	74_37	missense	15.54	125	23	SNP	1.000	C	C	193409893	G	C	193409893	3	2	184	1	0	0	0	0	1	0	0	0	10910	1291	45	5	3143	5	OPA1	3	193409893	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	6320739	193409893	4612537	123	45800											
PCYT1A	5130	genome.wustl.edu	37	chr3	195984695	195984695	+	Missense_Mutation	SNP	T	T	C	0	1	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	ggcttcttccatagttacccTgacatagggcttactaaagt	10	13	8	10	0	1	1	0	1	1	0	2	1	2	1	2	2	2	3	2	2	6	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr3:195984695T>C	ENST00000292823.2	-	4	353	c.181A>G	c.(181-183)Agg>Ggg	p.R61G	PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000419333.1_Missense_Mutation_p.R61G|PCYT1A_ENST00000431016.1_Missense_Mutation_p.R61G|RP11-447L10.1_ENST00000431391.1_3'UTR	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	61					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	ATAGTTACCCTGACATAGGGC	0.368																																																	0													87	89	88					3																	195984695		2203	4300	6503	SO:0001583	missense	0			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.181A>G	3.37:g.195984695T>C	ENSP00000292823:p.Arg61Gly		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	pfam_Cyt_trans-like,superfamily_NA-bd_OB-fold,tigrfam_Cyt_trans-like	p.R61G	ENST00000292823.2	37	c.181	CCDS3315.1	3	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377190	0.82682	.	.	ENSG00000161217	ENST00000441879;ENST00000419333;ENST00000292823;ENST00000431016;ENST00000411591;ENST00000412869;ENST00000443555	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	L	0.58101	1.795	0.80722	D	1	P	0.50443	0.935	B	0.41412	0.356	T	0.64106	-0.6485	9	0.87932	D	0	-20.1829	15.5881	0.76502	0.0:0.0:0.0:1.0	.	61	P49585	PCY1A_HUMAN	G	61	.	ENSP00000292823:R61G	R	-	1	2	PCYT1A	197469092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.271000	0.43364	2.272000	0.75746	0.460000	0.39030	AGG	PCYT1A	-	NULL	ENSG00000161217		0.368	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1A	HGNC	protein_coding	OTTHUMT00000341147.1	-	0	89	0	T	NM_005017		195984695	-1	tier1	-	no_errors	ENST00000292823	ensembl	human	known	74_37	missense	25.29	65	22	SNP	1.000	C	C	195984695	T	C	195984695	3	2	184	1	0	0	0	0	1	0	0	0	11649	1579	55	4	950	4	PCYT1A	3	195984695	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	2574802	195984695	2037735	124	45801											
BST1	683	genome.wustl.edu	37	chr4	15707200	15707200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctggacaaggatccctgctCcgtgctgccctcagactatg	7	9	11	14	1	1	1	1	0	0	1	3	3	3	3	3	2	3	3	3	2	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:15707200C>T	ENST00000265016.4	+	2	446	c.251C>T	c.(250-252)tCc>tTc	p.S84F	BST1_ENST00000382346.3_Missense_Mutation_p.S99F	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	84					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						GATCCCTGCTCCGTGCTGCCC	0.473																																																	0													150	137	141					4																	15707200		2203	4300	6503	SO:0001583	missense	0			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.251C>T	4.37:g.15707200C>T	ENSP00000265016:p.Ser84Phe		B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.S84F	ENST00000265016.4	37	c.251	CCDS3416.1	4	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568857	0.28003	.	.	ENSG00000109743	ENST00000265016;ENST00000382346	T;T	0.15139	2.45;2.45	5.72	3.93	0.45458	.	0.362486	0.28236	N	0.016082	T	0.25382	0.0617	M	0.63843	1.955	0.09310	N	1	D	0.56035	0.974	P	0.49421	0.61	T	0.06625	-1.0816	9	.	.	.	-2.0327	11.3176	0.49401	0.3312:0.6688:0.0:0.0	.	84	Q10588	BST1_HUMAN	F	84;99	ENSP00000265016:S84F;ENSP00000371783:S99F	.	S	+	2	0	BST1	15316298	0.030000	0.19436	0.002000	0.10522	0.024000	0.10985	1.688000	0.37690	0.714000	0.32081	-0.187000	0.12897	TCC	BST1	-	pfam_ADP-ribosyl_cyclase	ENSG00000109743		0.473	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	-	0	33	0	C	NM_004334		15707200	1	tier1	-	no_errors	ENST00000265016	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.029	T	T	15707200	C	T	15707200	3	4	184	1	0	0	0	0	1	0	0	0	1537	855	30	3	257	3	BST1	4	15707200	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09		15707200	175447076	125	45802											
PGM2	55276	genome.wustl.edu	37	chr4	37836311	37836311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcgtgatcagttttgacgcCcgagctcatccatccagtgg	8	11	10	12	3	2	2	2	2	0	0	5	3	4	2	3	1	1	2	3	1	0	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:37836311C>T	ENST00000381967.4	+	3	421	c.321C>T	c.(319-321)gcC>gcT	p.A107A	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	107					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GTTTTGACGCCCGAGCTCATC	0.343																																																	0													88	98	95					4																	37836311		2203	4300	6503	SO:0001819	synonymous_variant	0			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.321C>T	4.37:g.37836311C>T			B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.A107	ENST00000381967.4	37	c.321	CCDS3443.1	4																																																																																			PGM2	-	pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000169299		0.343	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2	HGNC	protein_coding	OTTHUMT00000215079.2	-	0	175	0	C	NM_018290		37836311	1	tier1	-	no_errors	ENST00000381967	ensembl	human	known	74_37	silent	24.26	178	57	SNP	0.069	T	T	37836311	C	T	37836311	2	4	184	1	0	0	0	0	0	0	0	1	11837	610	22	3		3	PGM2	4	37836311	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	22129111	37836311	153317965	126	45803											
KLB	152831	genome.wustl.edu	37	chr4	39448748	39448748	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgacgggggctttccagctCggccctgccgcgcctcaccg	3	6	13	19	6	1	0	1	0	0	0	3	1	2	0	6	3	2	2	6	3	0	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:39448748C>G	ENST00000257408.4	+	4	2499	c.2402C>G	c.(2401-2403)tCg>tGg	p.S801W		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	801	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						CTTTCCAGCTCGGCCCTGCCG	0.647																																																	0													27	29	28					4																	39448748		2201	4291	6492	SO:0001583	missense	0			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.2402C>G	4.37:g.39448748C>G	ENSP00000257408:p.Ser801Trp		Q2M3K8	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.S801W	ENST00000257408.4	37	c.2402	CCDS3451.1	4	.	.	.	.	.	.	.	.	.	.	C	13.07	2.125936	0.37533	.	.	ENSG00000134962	ENST00000257408	T	0.35973	1.28	4.95	4.95	0.65309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.199690	0.06332	U	0.706371	T	0.72875	0.3515	H	0.94698	3.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.65459	-0.6163	10	0.54805	T	0.06	-24.1287	13.2015	0.59772	0.1594:0.8406:0.0:0.0	.	792;801	B7ZL50;Q86Z14	.;KLOTB_HUMAN	W	801	ENSP00000257408:S801W	ENSP00000257408:S801W	S	+	2	0	KLB	39125143	1.000000	0.71417	0.376000	0.26042	0.011000	0.07611	5.829000	0.69316	2.293000	0.77203	0.313000	0.20887	TCG	KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000134962		0.647	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	-	0	42	0	C	NM_175737		39448748	1	tier1	-	no_errors	ENST00000257408	ensembl	human	known	74_37	missense	21.82	43	12	SNP	0.958	G	G	39448748	C	G	39448748	3	3	184	1	0	0	0	0	1	0	0	0	8359	893	31	5	2416	5	KLB	4	39448748	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1612437	39448748	151705528	127	45804											
PDS5A	23244	genome.wustl.edu	37	chr4	39891930	39891930	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagaaatttgaccatctCtagaaaaggatttgttggtt	14	13	8	6	0	1	3	0	1	1	2	2	4	1	4	1	2	1	2	1	2	5	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:39891930C>A	ENST00000303538.8	-	17	2364	c.1825G>T	c.(1825-1827)Gag>Tag	p.E609*		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						TTGACCATCTCTAGAAAAGGA	0.353																																																	0													85	78	80					4																	39891930		1812	4076	5888	SO:0001587	stop_gained	0			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.1825G>T	4.37:g.39891930C>A	ENSP00000303427:p.Glu609*			Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E609*	ENST00000303538.8	37	c.1825	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	45	11.477114	0.99566	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.9328	19.6604	0.95864	0.0:1.0:0.0:0.0	.	.	.	.	X	609	.	.	E	-	1	0	PDS5A	39568325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.713000	0.84693	2.721000	0.93114	0.655000	0.94253	GAG	PDS5A	-	superfamily_ARM-type_fold	ENSG00000121892		0.353	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	-	0	68	0	C	NM_015200		39891930	-1	tier1	-	no_errors	ENST00000303538	ensembl	human	known	74_37	nonsense	24.19	94	30	SNP	1.000	A	A	39891930	C	A	39891930	4	1	184	1	0	0	0	0	0	1	0	0	11730	922	32	3	2256	3	PDS5A	4	39891930	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	443182	39891930	151262346	128	45805											
CHRNA9	55584	genome.wustl.edu	37	chr4	40356243	40356243	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcccagagtctaacctGaaagcagccaggaacaaaga	18	4	8	11	0	1	3	0	1	1	2	2	4	2	4	3	1	5	1	3	1	5	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:40356243G>T	ENST00000310169.2	+	5	1285	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	382					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AGTCTAACCTGAAAGCAGCCA	0.512																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)												0													88	84	85					4																	40356243		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.1146G>T	4.37:g.40356243G>T			Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L382	ENST00000310169.2	37	c.1146	CCDS3459.1	4																																																																																			CHRNA9	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000174343		0.512	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA9	HGNC	protein_coding	OTTHUMT00000216822.1	-	0	43	0	G			40356243	1	tier1	-	no_errors	ENST00000310169	ensembl	human	known	74_37	silent	6.58	71	5	SNP	0.004	T	T	40356243	G	T	40356243	2	4	184	1	0	0	0	0	0	0	0	1	3396	1277	45	3		3	CHRNA9	4	40356243	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	464313	40356243	150798033	129	45806											
GABRB1	2560	genome.wustl.edu	37	chr4	47405694	47405694	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgggtgtctttttggatCaactatgatgcatctgcagc	7	15	10	9	0	3	1	1	1	2	0	4	2	4	2	1	2	4	2	1	2	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:47405694C>G	ENST00000295454.3	+	7	1093	c.801C>G	c.(799-801)atC>atG	p.I267M	GABRB1_ENST00000538619.1_Missense_Mutation_p.I197M	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	267					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)	CTTTTTGGATCAACTATGATG	0.388																																																	0													129	122	124					4																	47405694		2203	4300	6503	SO:0001583	missense	0				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.801C>G	4.37:g.47405694C>G	ENSP00000295454:p.Ile267Met		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.I267M	ENST00000295454.3	37	c.801	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574949	0.65878	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.88124	-2.34;-2.34	5.43	4.59	0.56863	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92146	0.7510	M	0.72624	2.21	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.87578	0.95;0.998	D	0.92718	0.6189	10	0.87932	D	0	-28.1926	12.134	0.53959	0.0:0.8587:0.0:0.1413	.	197;267	F5GXV5;P18505	.;GBRB1_HUMAN	M	267;197	ENSP00000295454:I267M;ENSP00000440330:I197M	ENSP00000295454:I267M	I	+	3	3	GABRB1	47100451	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.101000	0.50283	1.531000	0.49152	0.655000	0.94253	ATC	GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000163288		0.388	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	-	0	33	0	C			47405694	1	tier1	-	no_errors	ENST00000295454	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	G	G	47405694	C	G	47405694	3	3	184	1	0	0	0	0	1	0	0	0	6190	816	29	5	827	5	GABRB1	4	47405694	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	7049451	47405694	143748582	130	45807											
FRYL	285527	genome.wustl.edu	37	chr4	48577189	48577189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aacaagggattctgtgatttCcatgctctcagaacgcatca	12	11	8	10	1	3	2	2	1	2	1	5	3	4	3	1	1	3	2	1	1	3	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:48577189C>G	ENST00000503238.1	-	22	2790	c.2791G>C	c.(2791-2793)Gaa>Caa	p.E931Q	FRYL_ENST00000537810.1_Missense_Mutation_p.E931Q|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.E931Q|FRYL_ENST00000358350.4_Missense_Mutation_p.E931Q|RNU5E-3P_ENST00000515913.1_RNA			O94915	FRYL_HUMAN	FRY-like	931					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						TCTGTGATTTCCATGCTCTCA	0.393																																																	0													119	112	114					4																	48577189		1881	4113	5994	SO:0001583	missense	0			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.2791G>C	4.37:g.48577189C>G	ENSP00000426064:p.Glu931Gln		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E931Q	ENST00000503238.1	37	c.2791	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415781	0.83449	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.065049	0.64402	U	0.000011	T	0.57213	0.2038	L	0.54323	1.7	0.80722	D	1	B;P	0.37176	0.322;0.586	B;B	0.38106	0.165;0.265	T	0.52689	-0.8542	10	0.24483	T	0.36	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	931;931	F2Z2S2;O94915	.;FRYL_HUMAN	Q	931	ENSP00000426064:E931Q;ENSP00000351113:E931Q;ENSP00000441114:E931Q;ENSP00000421584:E931Q	ENSP00000351113:E931Q	E	-	1	0	FRYL	48271946	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.461000	0.80834	2.686000	0.91538	0.650000	0.86243	GAA	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.393	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0	119	0	C			48577189	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	missense	20.96	132	35	SNP	1.000	G	G	48577189	C	G	48577189	3	3	184	1	0	0	0	0	1	0	0	0	6088	864	30	5	6410	5	FRYL	4	48577189	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1171495	48577189	142577087	131	45808											
LNX1	84708	genome.wustl.edu	37	chr4	54373487	54373487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggggagttcatttaccttCaggggcagtggtgttttcag	7	14	14	6	0	3	0	3	0	0	0	3	1	3	1	1	5	1	3	1	5	1	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:54373487C>T	ENST00000263925.7	-	4	1086	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	LNX1-AS1_ENST00000510785.1_RNA|LNX1_ENST00000306888.2_Missense_Mutation_p.E162K|LNX1-AS1_ENST00000514364.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000511989.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	258					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)			CATTTACCTTCAGGGGCAGTG	0.532																																																	0													139	121	127					4																	54373487		2203	4300	6503	SO:0001583	missense	0			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.772G>A	4.37:g.54373487C>T	ENSP00000263925:p.Glu258Lys		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.E258K	ENST00000263925.7	37	c.772	CCDS47057.1	4	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316650	0.23908	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.08282	3.11;4.54	5.0	5.0	0.66597	PDZ/DHR/GLGF (1);	0.394002	0.28883	N	0.013839	T	0.08492	0.0211	L	0.43152	1.355	0.43583	D	0.995922	B;B	0.25235	0.121;0.006	B;B	0.21360	0.034;0.012	T	0.10894	-1.0610	10	0.06494	T	0.89	.	18.0937	0.89481	0.0:1.0:0.0:0.0	.	258;162	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	K	162;96;258	ENSP00000302879:E162K;ENSP00000263925:E258K	ENSP00000263925:E258K	E	-	1	0	LNX1	54068244	1.000000	0.71417	0.964000	0.40570	0.071000	0.16799	5.732000	0.68563	2.602000	0.87976	0.455000	0.32223	GAA	LNX1	-	superfamily_PDZ	ENSG00000072201		0.532	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	-	0	40	0	C			54373487	-1	tier1	-	no_errors	ENST00000263925	ensembl	human	known	74_37	missense	25.45	41	14	SNP	0.989	T	T	54373487	C	T	54373487	3	4	184	1	0	0	0	0	1	0	0	0	8895	835	29	3	1446	3	LNX1	4	54373487	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	5796298	54373487	136780789	132	45809											
PRDM8	56978	genome.wustl.edu	37	chr4	81123144	81123144	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatgtggcgcatctgcgtttCcgctgccccaagagacttca	7	11	10	13	3	2	1	1	0	1	1	3	2	3	1	3	1	2	3	3	1	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:81123144C>T	ENST00000504452.1	+	8	1367	c.528C>T	c.(526-528)ttC>ttT	p.F176F	PRDM8_ENST00000339711.4_Silent_p.F176F|PRDM8_ENST00000415738.2_Silent_p.F176F			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	176					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						ATCTGCGTTTCCGCTGCCCCA	0.607											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													117	126	123					4																	81123144		2114	4228	6342	SO:0001819	synonymous_variant	0			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.528C>T	4.37:g.81123144C>T		1203	A8K7X2|Q6IQ36	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F176	ENST00000504452.1	37	c.528	CCDS43243.1	4																																																																																			PRDM8	-	smart_Znf_C2H2-like	ENSG00000152784		0.607	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRDM8	HGNC	protein_coding	OTTHUMT00000362793.1	-	0	33	0	C			81123144	1	tier1	-	no_errors	ENST00000339711	ensembl	human	known	74_37	silent	15.38	22	4	SNP	1.000	T	T	81123144	C	T	81123144	2	4	184	1	0	0	0	0	0	0	0	1	12504	854	30	3		3	PRDM8	4	81123144	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	26749657	81123144	110031132	133	45810											
USP53	54532	genome.wustl.edu	37	chr4	120213663	120213663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaaattctgagagaacagGtttgccttttcacgttgata	13	13	9	6	1	2	4	1	2	1	2	2	5	2	4	1	1	2	2	1	1	4	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:120213663G>T	ENST00000274030.6	+	19	3698	c.2519G>T	c.(2518-2520)gGt>gTt	p.G840V	USP53_ENST00000450251.1_Missense_Mutation_p.G840V	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						GAGAGAACAGGTTTGCCTTTT	0.383																																																	0													85	79	81					4																	120213663		1853	4090	5943	SO:0001583	missense	0			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.2519G>T	4.37:g.120213663G>T	ENSP00000274030:p.Gly840Val			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.G840V	ENST00000274030.6	37	c.2519	CCDS43265.1	4	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885623	0.33255	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.49139	0.79;0.79	5.4	2.58	0.30949	.	0.470387	0.21386	N	0.075399	T	0.36853	0.0982	M	0.61703	1.905	0.18873	N	0.999985	P	0.42409	0.779	B	0.34242	0.178	T	0.38436	-0.9661	10	0.66056	D	0.02	-11.7166	5.4223	0.16407	0.2586:0.2424:0.499:0.0	.	840	Q70EK8	UBP53_HUMAN	V	840	ENSP00000274030:G840V;ENSP00000409906:G840V	ENSP00000274030:G840V	G	+	2	0	USP53	120433111	0.016000	0.18221	0.950000	0.38849	0.921000	0.55340	0.387000	0.20718	0.771000	0.33359	0.585000	0.79938	GGT	USP53	-	NULL	ENSG00000145390		0.383	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	-	0	53	0	G	XM_052597		120213663	1	tier1	-	no_errors	ENST00000274030	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.005	T	T	120213663	G	T	120213663	3	4	184	1	0	0	0	0	1	0	0	0	17133	1261	44	3	2577	3	USP53	4	120213663	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	39090519	120213663	70940613	134	45811											
TMEM154	201799	genome.wustl.edu	37	chr4	153564270	153564270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgctgttcatccatttatCaagctcttccatttcaattt	9	18	3	11	0	4	0	3	0	1	0	6	0	6	0	2	0	2	3	2	0	3	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:153564270C>G	ENST00000304385.3	-	5	679	c.448G>C	c.(448-450)Gat>Cat	p.D150H		NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	150						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ATCCATTTATCAAGCTCTTCC	0.343																																																	0													185	179	181					4																	153564270		2202	4300	6502	SO:0001583	missense	0			AK056590	CCDS3779.1	4q31.3	2008-02-05			ENSG00000170006	ENSG00000170006			26489	protein-coding gene	gene with protein product						12477932	Standard	NM_152680		Approved	FLJ32028	uc003imw.2	Q6P9G4	OTTHUMG00000161463	ENST00000304385.3:c.448G>C	4.37:g.153564270C>G	ENSP00000302144:p.Asp150His		Q8WUT7|Q96MQ8	Missense_Mutation	SNP	NULL	p.D150H	ENST00000304385.3	37	c.448	CCDS3779.1	4	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266487	0.80358	.	.	ENSG00000170006	ENST00000304385	T	0.54279	0.58	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.70789	0.3264	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71159	-0.4674	10	0.87932	D	0	-9.2075	18.0311	0.89285	0.0:1.0:0.0:0.0	.	150	Q6P9G4	TM154_HUMAN	H	150	ENSP00000302144:D150H	ENSP00000302144:D150H	D	-	1	0	TMEM154	153783720	0.998000	0.40836	0.978000	0.43139	0.985000	0.73830	4.906000	0.63293	2.857000	0.98124	0.650000	0.86243	GAT	TMEM154	-	NULL	ENSG00000170006		0.343	TMEM154-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM154	HGNC	protein_coding	OTTHUMT00000365024.1	-	0	79	0	C	NM_152680		153564270	-1	tier1	-	no_errors	ENST00000304385	ensembl	human	known	74_37	missense	27.85	57	22	SNP	1.000	G	G	153564270	C	G	153564270	3	3	184	1	0	0	0	0	1	0	0	0	16118	826	29	5	115	5	TMEM154	4	153564270	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	33350607	153564270	37590006	135	45812											
TRIM60	166655	genome.wustl.edu	37	chr4	165961854	165961854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatacaagatgaagagatGaacattttagcaaaactaaa	21	8	7	5	0	0	5	0	2	0	3	0	6	0	5	0	0	4	1	0	0	9	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:165961854G>A	ENST00000512596.1	+	3	846	c.630G>A	c.(628-630)atG>atA	p.M210I	TRIM60_ENST00000508504.1_Missense_Mutation_p.M210I|TRIM60_ENST00000341062.5_Missense_Mutation_p.M210I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	210						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		ATGAAGAGATGAACATTTTAG	0.333																																																	0													36	39	38					4																	165961854		2203	4300	6503	SO:0001583	missense	0			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21162	protein-coding gene	gene with protein product			"ring finger protein 129", "tripartite motif-containing 60"	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.630G>A	4.37:g.165961854G>A	ENSP00000421142:p.Met210Ile		Q8NA35	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.M210I	ENST00000512596.1	37	c.630	CCDS3808.1	4	.	.	.	.	.	.	.	.	.	.	G	6.954	0.545837	0.13312	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.04603	3.59;3.59;3.59	2.49	-0.394	0.12434	.	0.955272	0.08497	U	0.937081	T	0.05547	0.0146	L	0.56769	1.78	0.09310	N	1	B	0.22480	0.07	B	0.22601	0.04	T	0.43589	-0.9382	10	0.42905	T	0.14	.	2.3911	0.04378	0.2943:0.0:0.469:0.2367	.	210	Q495X7	TRI60_HUMAN	I	210	ENSP00000421142:M210I;ENSP00000426496:M210I;ENSP00000343765:M210I	ENSP00000343765:M210I	M	+	3	0	TRIM60	166181304	0.001000	0.12720	0.000000	0.03702	0.353000	0.29299	0.867000	0.27968	-0.150000	0.11195	-0.136000	0.14681	ATG	TRIM60	-	NULL	ENSG00000176979		0.333	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM60	HGNC	protein_coding	OTTHUMT00000364325.1	-	0	62	0	G	NM_152620		165961854	1	tier1	-	no_errors	ENST00000341062	ensembl	human	known	74_37	missense	30.77	63	28	SNP	0.000	A	A	165961854	G	A	165961854	3	1	184	1	0	0	0	0	1	0	0	0	16583	1290	45	3	632	3	TRIM60	4	165961854	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	12397584	165961854	25192422	136	45813											
SPOCK3	50859	genome.wustl.edu	37	chr4	167713337	167713337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactgcttctctcaggcctCagcaatgtttttgtcttctt	5	19	6	11	0	5	0	2	0	3	0	6	0	5	0	1	1	3	3	1	1	2	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:167713337C>T	ENST00000357154.3	-	8	839	c.702G>A	c.(700-702)ctG>ctA	p.L234L	SPOCK3_ENST00000421836.2_Silent_p.L183L|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000511531.1_Silent_p.L234L|SPOCK3_ENST00000502330.1_Silent_p.L234L|SPOCK3_ENST00000357545.4_Silent_p.L231L|SPOCK3_ENST00000541354.1_Silent_p.L114L|SPOCK3_ENST00000534949.1_Silent_p.L138L|SPOCK3_ENST00000541637.1_Silent_p.L136L|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000512648.1_Silent_p.L231L|SPOCK3_ENST00000504953.1_Silent_p.L231L|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Silent_p.L136L|SPOCK3_ENST00000511269.1_Silent_p.L231L|SPOCK3_ENST00000506886.1_Silent_p.L234L	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	234					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)		TCTCAGGCCTCAGCAATGTTT	0.398																																																	0													108	90	96					4																	167713337		2203	4300	6503	SO:0001819	synonymous_variant	0			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.702G>A	4.37:g.167713337C>T			B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.L234	ENST00000357154.3	37	c.702	CCDS54817.1	4																																																																																			SPOCK3	-	pfam_SPARC/Testican_Ca-bd-dom	ENSG00000196104		0.398	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	HGNC	protein_coding	OTTHUMT00000364091.1	-	0	54	0	C			167713337	-1	tier1	-	no_errors	ENST00000357154	ensembl	human	known	74_37	silent	26.47	50	18	SNP	1.000	T	T	167713337	C	T	167713337	2	4	184	1	0	0	0	0	0	0	0	1	15128	813	29	3		3	SPOCK3	4	167713337	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1751483	167713337	23440939	137	45814											
DDX60L	91351	genome.wustl.edu	37	chr4	169377211	169377211	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagacacgatggtacattctCaaggatagtgaacatgaagt	16	9	10	6	1	1	3	1	2	1	1	2	5	1	4	0	2	2	1	0	2	6	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:169377211C>G	ENST00000511577.1	-	7	1063	c.816G>C	c.(814-816)ttG>ttC	p.L272F	DDX60L_ENST00000260184.7_Missense_Mutation_p.L272F|DDX60L_ENST00000505890.1_Missense_Mutation_p.L272F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	272							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)		GGTACATTCTCAAGGATAGTG	0.448																																																	0													70	64	66					4																	169377211		1951	4150	6101	SO:0001583	missense	0			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.816G>C	4.37:g.169377211C>G	ENSP00000422423:p.Leu272Phe		Q96ND6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L272F	ENST00000511577.1	37	c.816		4	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845569	0.32606	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890	T;T;T	0.36520	1.26;1.26;1.25	3.62	0.846	0.18955	.	0.000000	0.29892	U	0.010924	T	0.50497	0.1619	M	0.69358	2.11	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.37979	-0.9682	10	0.41790	T	0.15	.	7.2639	0.26219	0.0:0.587:0.0:0.413	.	272;272	D6R906;Q5H9U9	.;DDX6L_HUMAN	F	272	ENSP00000260184:L272F;ENSP00000422423:L272F;ENSP00000422202:L272F	ENSP00000260184:L272F	L	-	3	2	DDX60L	169613786	0.019000	0.18553	0.000000	0.03702	0.020000	0.10135	0.157000	0.16402	-0.232000	0.09811	-0.459000	0.05422	TTG	DDX60L	-	NULL	ENSG00000181381		0.448	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	-	0	27	0	C	NM_001012967		169377211	-1	tier1	-	no_errors	ENST00000260184	ensembl	human	known	74_37	missense	30.00	28	12	SNP	0.015	G	G	169377211	C	G	169377211	3	3	184	1	0	0	0	0	1	0	0	0	4388	825	29	5	4432	5	DDX60L	4	169377211	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1663874	169377211	21777065	138	45815											
LRP2BP	55805	genome.wustl.edu	37	chr4	186291869	186291869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagacaccttgcgtggtaGaaggatgccattgccatgcc	10	9	12	10	1	0	3	0	1	0	2	0	4	0	4	4	2	4	1	4	2	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr4:186291869G>C	ENST00000328559.7	-	7	1714	c.903C>G	c.(901-903)ttC>ttG	p.F301L	LRP2BP_ENST00000505916.1_Missense_Mutation_p.F301L|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000510776.1_Missense_Mutation_p.F275L|LRP2BP_ENST00000362004.3_Missense_Mutation_p.F303L	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	301						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TTGCGTGGTAGAAGGATGCCA	0.478																																																	0													131	111	118					4																	186291869		2203	4300	6503	SO:0001583	missense	0			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.903C>G	4.37:g.186291869G>C	ENSP00000332681:p.Phe301Leu		A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F303L	ENST00000328559.7	37	c.909	CCDS3840.1	4	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761296	0.69763	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.65	4.8	0.61643	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.66939	2.045	0.54753	D	0.999985	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.63695	-0.6579	10	0.39692	T	0.17	-24.736	11.377	0.49735	0.1461:0.0:0.8539:0.0	.	275;301	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	L	303;301;275;301	ENSP00000354846:F303L;ENSP00000332681:F301L;ENSP00000424610:F275L;ENSP00000426203:F301L	ENSP00000332681:F301L	F	-	3	2	LRP2BP	186528863	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	3.990000	0.56965	1.616000	0.50265	0.655000	0.94253	TTC	LRP2BP	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000109771		0.478	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRP2BP	HGNC	protein_coding	OTTHUMT00000360679.2	-	0	39	0	G	NM_018409		186291869	-1	tier1	-	no_errors	ENST00000362004	ensembl	human	known	74_37	missense	24.29	53	17	SNP	1.000	C	C	186291869	G	C	186291869	3	2	184	1	0	0	0	0	1	0	0	0	8992	933	33	5	148	5	LRP2BP	4	186291869	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	16914658	186291869	4862407	139	45816											
NKD2	85409	genome.wustl.edu	37	chr5	1033539	1033539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcacccgggacaactcctCagcgcagatgacggagagag	12	3	14	12	3	1	3	1	1	0	2	2	7	2	5	2	2	3	2	2	2	1	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:1033539C>T	ENST00000296849.5	+	5	484	c.255C>T	c.(253-255)ctC>ctT	p.L85L	NKD2_ENST00000537972.1_Silent_p.L85L|NKD2_ENST00000274150.4_Silent_p.L85L	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	85	Targeting to the basolateral cell membrane.				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)			GACAACTCCTCAGCGCAGATG	0.677																																																	0													22	28	26					5																	1033539		2182	4275	6457	SO:0001819	synonymous_variant	0			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.255C>T	5.37:g.1033539C>T			Q96EK8|Q9BSN0	Silent	SNP	pfscan_EF_hand_dom	p.L85	ENST00000296849.5	37	c.255	CCDS3859.1	5																																																																																			NKD2	-	NULL	ENSG00000145506		0.677	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2	-	0	52	0	C	NM_033120		1033539	1	tier1	-	no_errors	ENST00000296849	ensembl	human	known	74_37	silent	36.26	109	62	SNP	0.000	T	T	1033539	C	T	1033539	2	4	184	1	0	0	0	0	0	0	0	1	10481	813	29	3		3	NKD2	5	1033539	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09		1033539	179881721	140	45817											
SLC12A7	10723	genome.wustl.edu	37	chr5	1085364	1085364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgggatgtccggggggtcGaaggcagacttgatgacgcc	8	6	17	10	4	0	3	0	2	0	1	2	5	1	4	2	5	0	1	2	5	1	1	rs140320673	byFrequency	TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:1085364G>A	ENST00000264930.5	-	7	943	c.900C>T	c.(898-900)ttC>ttT	p.F300F		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	300					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)	CCGGGGGGTCGAAGGCAGACT	0.652																																																	0								G		2,4392	6.2+/-15.9	0,2,2195	60	49	53		900	-3.2	0.9	5	dbSNP_134	53	0,8596		0,0,4298	no	coding-synonymous	SLC12A7	NM_006598.2		0,2,6493	AA,AG,GG		0.0,0.0455,0.0154		300/1084	1085364	2,12988	2197	4298	6495	SO:0001819	synonymous_variant	0			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.900C>T	5.37:g.1085364G>A			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.F300	ENST00000264930.5	37	c.900	CCDS34129.1	5																																																																																			SLC12A7	-	prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	ENSG00000113504		0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	-	0	45	0	G	NM_006598		1085364	-1	tier1	rs140320673	no_errors	ENST00000264930	ensembl	human	known	74_37	silent	6.35	116	8	SNP	0.936	A	A	1085364	G	A	1085364	2	1	184	1	0	0	0	0	0	0	0	1	14433	1049	37	1		1	SLC12A7	5	1085364	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	51825	1085364	179829896	141	45818											
TERT	7015	genome.wustl.edu	37	chr5	1264696	1264696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccatactcagggacacctCggaccagggtcctaaggcag	11	5	12	13	1	1	0	1	0	0	0	3	2	2	2	4	4	2	1	4	4	2	2	rs532158398		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:1264696C>T	ENST00000310581.5	-	11	2723	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	889	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.R877Q(1)|p.R889Q(1)		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)	AGGGACACCTCGGACCAGGGT	0.577									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								2	Substitution - Missense(2)	lung(2)											72	78	76					5																	1264696		2102	4227	6329	SO:0001583	missense	0	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.2666G>A	5.37:g.1264696C>T	ENSP00000309572:p.Arg889Gln		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT	p.R889Q	ENST00000310581.5	37	c.2666	CCDS3861.2	5	.	.	.	.	.	.	.	.	.	.	C	3.550	-0.091861	0.07053	.	.	ENSG00000164362	ENST00000310581	D	0.97688	-4.49	4.09	-3.4	0.04853	Reverse transcriptase (2);	1.624070	0.03744	N	0.255471	D	0.94128	0.8117	L	0.58101	1.795	0.09310	N	1	P	0.36753	0.568	B	0.24394	0.053	D	0.87595	0.2493	10	0.13470	T	0.59	-12.0054	8.0136	0.30368	0.1302:0.1284:0.0:0.7414	.	889	O14746	TERT_HUMAN	Q	889	ENSP00000309572:R889Q	ENSP00000309572:R889Q	R	-	2	0	TERT	1317696	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.319000	0.08039	-0.558000	0.06118	-0.480000	0.04831	CGA	TERT	-	pfam_RVT,pfscan_RVT	ENSG00000164362		0.577	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	HGNC	protein_coding	OTTHUMT00000206729.2	-	0	58	0	C			1264696	-1	tier1	-	no_errors	ENST00000310581	ensembl	human	known	74_37	missense	5.52	137	8	SNP	0.000	T	T	1264696	C	T	1264696	3	4	184	1	0	0	0	0	1	0	0	0	15811	884	31	1	756	1	TERT	5	1264696	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	179332	1264696	179650564	142	45819											
CLPTM1L	81037	genome.wustl.edu	37	chr5	1330463	1330463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctcgtccagcaggaacaGaaagatgaccacggtgctga	12	6	12	11	2	0	4	0	2	0	2	2	5	1	5	2	2	4	3	2	2	2	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:1330463G>A	ENST00000320895.5	-	9	1269	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	CLPTM1L_ENST00000507807.1_Intron|CLPTM1L_ENST00000320927.6_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	338					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)		AGCAGGAACAGAAAGATGACC	0.637																																																	0													83	79	81					5																	1330463		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1012C>T	5.37:g.1330463G>A			D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	pfam_CLPTM1	p.L338	ENST00000320895.5	37	c.1012	CCDS3862.1	5																																																																																			CLPTM1L	-	pfam_CLPTM1	ENSG00000049656		0.637	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2		0	22	0	G	NM_030782		1330463	-1			no_errors	ENST00000320895	ensembl	human	known	74_37	silent	7.00	93	7	SNP	1.000	A	A	1330463	G	A	1330463	2	1	184	1	0	0	0	0	0	0	0	1	3562	933	33	3		3	CLPTM1L	5	1330463	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	65767	1330463	179584797	143	45820											
SLC6A3	6531	genome.wustl.edu	37	chr5	1422047	1422047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagagcagcacgatgaccaGcaccaggcaggctgtgagct	11	5	14	11	1	0	3	0	2	0	1	0	4	0	3	2	2	4	7	2	2	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:1422047G>C	ENST00000270349.9	-	5	863	c.736C>G	c.(736-738)Ctg>Gtg	p.L246V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.L246V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	246					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACGATGACCAGCACCAGGCAG	0.647																																																	0													94	83	86					5																	1422047		2203	4300	6503	SO:0001583	missense	0				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.736C>G	5.37:g.1422047G>C	ENSP00000270349:p.Leu246Val		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.L246V	ENST00000270349.9	37	c.736	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	G	6.620	0.482872	0.12581	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.72835	-0.69;-0.69;-0.69	4.4	3.45	0.39498	.	0.240834	0.32624	N	0.005856	T	0.45276	0.1334	N	0.10629	0.01	0.38386	D	0.945269	B	0.10296	0.003	B	0.11329	0.006	T	0.40421	-0.9564	10	0.11485	T	0.65	.	10.1313	0.42680	0.0:0.379:0.621:0.0	.	246	Q01959	SC6A3_HUMAN	V	246;246;172	ENSP00000270349:L246V;ENSP00000399806:L246V;ENSP00000429101:L172V	ENSP00000270349:L246V	L	-	1	2	SLC6A3	1475047	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.225000	0.51246	2.145000	0.66743	0.462000	0.41574	CTG	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000142319		0.647	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3		0	21	0	G	NM_001044		1422047	-1			no_errors	ENST00000270349	ensembl	human	known	74_37	missense	12.07	102	14	SNP	1.000	C	C	1422047	G	C	1422047	3	2	184	1	0	0	0	0	1	0	0	0	14730	962	34	5	1170	5	SLC6A3	5	1422047	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	91584	1422047	179493213	144	45821											
SLC6A3	6531	genome.wustl.edu	37	chr5	1432726	1432726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagctccgtggtgaaggagGagaagagatagtgcagcgcc	11	5	18	7	2	0	3	0	1	0	2	1	7	1	5	2	4	3	2	2	4	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:1432726G>T	ENST00000270349.9	-	4	633	c.506C>A	c.(505-507)tCc>tAc	p.S169Y	SLC6A3_ENST00000453492.2_Missense_Mutation_p.S169Y	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	169					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGTGAAGGAGGAGAAGAGATA	0.582																																																	0													157	139	145					5																	1432726		2203	4300	6503	SO:0001583	missense	0				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.506C>A	5.37:g.1432726G>T	ENSP00000270349:p.Ser169Tyr		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.S169Y	ENST00000270349.9	37	c.506	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632981	0.67015	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.75589	-0.95;-0.95;-0.95	4.34	4.34	0.51931	.	0.058731	0.64402	D	0.000001	D	0.83248	0.5213	M	0.62088	1.915	0.58432	D	0.999991	D	0.71674	0.998	D	0.73708	0.981	D	0.84923	0.0855	10	0.62326	D	0.03	.	14.4007	0.67044	0.0:0.0:1.0:0.0	.	169	Q01959	SC6A3_HUMAN	Y	169;169;95	ENSP00000270349:S169Y;ENSP00000399806:S169Y;ENSP00000429101:S95Y	ENSP00000270349:S169Y	S	-	2	0	SLC6A3	1485726	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.016000	0.76393	2.237000	0.73441	0.591000	0.81541	TCC	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000142319		0.582	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	-	0	39	0	G	NM_001044		1432726	-1	tier1	-	no_errors	ENST00000270349	ensembl	human	known	74_37	missense	8.09	125	11	SNP	1.000	T	T	1432726	G	T	1432726	3	4	184	1	0	0	0	0	1	0	0	0	14730	1174	41	3	1404	3	SLC6A3	5	1432726	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	10679	1432726	179482534	145	45822											
TRIO	7204	genome.wustl.edu	37	chr5	14369614	14369614	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagcaagcacctggagcaGaaggaggcattcctgaaggt	13	6	13	9	0	1	2	1	1	0	1	2	4	2	4	2	4	3	4	2	4	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:14369614G>A	ENST00000344204.4	+	18	3222	c.3198G>A	c.(3196-3198)caG>caA	p.Q1066Q	TRIO_ENST00000537187.1_Silent_p.Q1066Q|TRIO_ENST00000509967.2_Silent_p.Q1017Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1066					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)					ACCTGGAGCAGAAGGAGGCAT	0.607																																																	0													92	86	88					5																	14369614		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3198G>A	5.37:g.14369614G>A			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.Q1066	ENST00000344204.4	37	c.3198	CCDS3883.1	5																																																																																			TRIO	-	NULL	ENSG00000038382		0.607	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	0	37	0	G	NM_007118		14369614	1	tier1	-	no_errors	ENST00000344204	ensembl	human	known	74_37	silent	8.97	132	13	SNP	0.980	A	A	14369614	G	A	14369614	2	1	184	1	0	0	0	0	0	0	0	1	16600	933	33	3		3	TRIO	5	14369614	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	12936888	14369614	166545646	146	45823											
ZNF622	90441	genome.wustl.edu	37	chr5	16463720	16463720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgggaacaaaataagcagtCcgtgatagggatggcaccaa	16	6	12	7	1	0	1	0	1	0	0	1	3	1	3	2	3	2	2	2	3	6	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:16463720C>T	ENST00000308683.2	-	2	883	c.757G>A	c.(757-759)Gac>Aac	p.D253N		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	253					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						AATAAGCAGTCCGTGATAGGG	0.483																																																	0													181	181	181					5																	16463720		2203	4300	6503	SO:0001583	missense	0			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.757G>A	5.37:g.16463720C>T	ENSP00000310042:p.Asp253Asn			Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.D253N	ENST00000308683.2	37	c.757	CCDS3886.1	5	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150554	0.78001	.	.	ENSG00000173545	ENST00000308683	T	0.43294	0.95	5.75	4.88	0.63580	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.56396	1.775	0.80722	D	1	D	0.58620	0.983	P	0.61275	0.886	T	0.52200	-0.8607	10	0.20519	T	0.43	-20.5038	16.1926	0.82004	0.1343:0.8657:0.0:0.0	.	253	Q969S3	ZN622_HUMAN	N	253	ENSP00000310042:D253N	ENSP00000310042:D253N	D	-	1	0	ZNF622	16516720	1.000000	0.71417	0.878000	0.34440	0.310000	0.27922	5.529000	0.67135	1.411000	0.46957	0.561000	0.74099	GAC	ZNF622	-	smart_Znf_C2H2-like	ENSG00000173545		0.483	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF622	HGNC	protein_coding	OTTHUMT00000207105.1	-	0	35	0	C	NM_033414		16463720	-1	tier1	-	no_errors	ENST00000308683	ensembl	human	known	74_37	missense	12.50	98	14	SNP	1.000	T	T	16463720	C	T	16463720	3	4	184	1	0	0	0	0	1	0	0	0	18094	855	30	3	696	3	ZNF622	5	16463720	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2094106	16463720	164451540	147	45824											
PRDM9	56979	genome.wustl.edu	37	chr5	23527657	23527657	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaataagtcacacctcctCagacaccagaggacacacac	16	4	6	15	0	2	2	2	0	0	2	3	3	3	3	3	1	1	1	3	1	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:23527657C>T	ENST00000296682.3	+	11	2642	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	820					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						CACACCTCCTCAGACACCAGA	0.562										HNSCC(3;0.000094)																																							0													32	45	41					5																	23527657		2112	4252	6364	SO:0001819	synonymous_variant	0			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.2460C>T	5.37:g.23527657C>T			B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L820	ENST00000296682.3	37	c.2460	CCDS43307.1	5																																																																																			PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	63	0	C	NM_020227		23527657	1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	silent	11.54	92	12	SNP	0.000	T	T	23527657	C	T	23527657	2	4	184	1	0	0	0	0	0	0	0	1	12505	813	29	3		3	PRDM9	5	23527657	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	7063937	23527657	157387603	148	45825											
RAI14	26064	genome.wustl.edu	37	chr5	34821951	34821951	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaggagttacaagataaatTacaggtatataaatagattg	19	12	8	2	0	0	2	0	0	0	2	0	3	0	3	0	2	2	2	0	2	11	9			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:34821951T>C	ENST00000265109.3	+	14	1396	c.1109T>C	c.(1108-1110)tTa>tCa	p.L370S	RAI14_ENST00000397449.1_Missense_Mutation_p.L363S|RAI14_ENST00000506376.1_Missense_Mutation_p.L362S|RAI14_ENST00000503673.1_Missense_Mutation_p.L370S|RAI14_ENST00000515799.1_Missense_Mutation_p.L373S|RAI14_ENST00000512629.1_Missense_Mutation_p.L341S|RAI14_ENST00000428746.2_Missense_Mutation_p.L370S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	370						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)					CAAGATAAATTACAGGTATAT	0.338																																																	0													71	71	71					5																	34821951		2203	4299	6502	SO:0001583	missense	0			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.1109T>C	5.37:g.34821951T>C	ENSP00000265109:p.Leu370Ser		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L373S	ENST00000265109.3	37	c.1118	CCDS34142.1	5	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138754	0.77775	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.46451	0.87;0.9;0.87;0.87;0.87;0.92;0.9	5.81	5.81	0.92471	.	.	.	.	.	T	0.55321	0.1913	L	0.32530	0.975	0.45822	D	0.998697	D;P;D;P	0.89917	1.0;0.911;0.957;0.911	D;B;P;B	0.91635	0.999;0.311;0.59;0.311	T	0.58679	-0.7594	9	0.87932	D	0	-3.2913	16.1678	0.81782	0.0:0.0:0.0:1.0	.	362;341;373;370	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	S	370;341;370;370;373;362;363	ENSP00000265109:L370S;ENSP00000422377:L341S;ENSP00000388725:L370S;ENSP00000422942:L370S;ENSP00000427123:L373S;ENSP00000423854:L362S;ENSP00000380591:L363S	ENSP00000265109:L370S	L	+	2	0	RAI14	34857708	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	5.945000	0.70226	2.218000	0.71995	0.528000	0.53228	TTA	RAI14	-	NULL	ENSG00000039560		0.338	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	-	0	39	0	T	NM_015577		34821951	1	tier1	-	no_errors	ENST00000515799	ensembl	human	known	74_37	missense	18.75	39	9	SNP	1.000	C	C	34821951	T	C	34821951	3	2	184	1	0	0	0	0	1	0	0	0	13053	1764	61	4	1224	4	RAI14	5	34821951	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	11294294	34821951	146093309	149	45826											
C5orf42	65250	genome.wustl.edu	37	chr5	37201793	37201793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttactgaagtccttggcaGagtctatcagaagttgaaat	12	14	9	6	0	2	4	1	2	1	2	3	4	3	4	1	1	1	2	1	1	5	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:37201793G>C	ENST00000508244.1	-	18	3500	c.3407C>G	c.(3406-3408)tCt>tGt	p.S1136C	C5orf42_ENST00000274258.7_Missense_Mutation_p.S17C|C5orf42_ENST00000425232.2_Missense_Mutation_p.S1136C			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1136						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)			GTCCTTGGCAGAGTCTATCAG	0.443																																																	0													119	118	118					5																	37201793		2203	4300	6503	SO:0001583	missense	0				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.3407C>G	5.37:g.37201793G>C	ENSP00000421690:p.Ser1136Cys		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.S1136C	ENST00000508244.1	37	c.3407	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791541	0.90367	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26067	1.78;1.78;1.76;1.77	5.48	5.48	0.80851	.	0.000000	0.43416	D	0.000568	T	0.35537	0.0935	N	0.19112	0.55	0.38454	D	0.947033	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.31998	-0.9923	10	0.87932	D	0	.	13.6182	0.62121	0.0743:0.0:0.9257:0.0	.	1136;17	E9PH94;Q9H799	.;CE042_HUMAN	C	1136;1136;17;184;17	ENSP00000421690:S1136C;ENSP00000389014:S1136C;ENSP00000274258:S17C;ENSP00000424223:S184C	ENSP00000274258:S17C	S	-	2	0	C5orf42	37237550	1.000000	0.71417	0.989000	0.46669	0.984000	0.73092	4.923000	0.63412	2.583000	0.87209	0.313000	0.20887	TCT	C5orf42	-	NULL	ENSG00000197603		0.443	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0	47	0	G	NM_023073		37201793	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	21.88	50	14	SNP	0.996	C	C	37201793	G	C	37201793	3	2	184	1	0	0	0	0	1	0	0	0	2308	942	33	5	6322	5	C5orf42	5	37201793	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2379842	37201793	143713467	150	45827											
CARD6	84674	genome.wustl.edu	37	chr5	40852462	40852462	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgtgaccgctagggattCaatcctcagtcacaaggttc	11	10	10	10	1	3	2	3	1	0	1	5	3	4	3	2	2	0	2	2	2	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:40852462C>G	ENST00000254691.5	+	3	1227	c.1028C>G	c.(1027-1029)tCa>tGa	p.S343*	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	343					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						GCTAGGGATTCAATCCTCAGT	0.463																																																	0													60	59	59					5																	40852462		2203	4300	6503	SO:0001587	stop_gained	0			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.1028C>G	5.37:g.40852462C>G	ENSP00000254691:p.Ser343*		Q52LR2	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD	p.S343*	ENST00000254691.5	37	c.1028	CCDS3935.1	5	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310255	0.60414	.	.	ENSG00000132357	ENST00000254691;ENST00000509771	.	.	.	5.4	3.6	0.41247	.	1.299340	0.05179	N	0.500926	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	0.0214	10.2506	0.43367	0.0:0.837:0.0:0.163	.	.	.	.	X	343	.	ENSP00000254691:S343X	S	+	2	0	CARD6	40888219	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.442000	0.21628	0.825000	0.34637	0.655000	0.94253	TCA	CARD6	-	NULL	ENSG00000132357		0.463	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3		0	48	0	C			40852462	1			no_errors	ENST00000254691	ensembl	human	known	74_37	nonsense	6.38	44	3	SNP	0.003	G	G	40852462	C	G	40852462	4	3	184	1	0	0	0	0	0	1	0	0	2657	838	29	5	1038	5	CARD6	5	40852462	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3650669	40852462	140062798	151	45828											
CENPH	64946	genome.wustl.edu	37	chr5	68485511	68485511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgacgagcccgcggactccgGaggggaaggccgggcaggcg	7	1	20	13	7	0	0	0	0	0	0	1	5	1	3	3	7	1	1	3	7	1	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:68485511G>C	ENST00000283006.2	+	1	137	c.50G>C	c.(49-51)gGa>gCa	p.G17A	CENPH_ENST00000515001.1_Missense_Mutation_p.G17A	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		GCGGACTCCGGAGGGGAAGGC	0.677																																																	0													10	12	11					5																	68485511		2178	4272	6450	SO:0001583	missense	0			AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.50G>C	5.37:g.68485511G>C	ENSP00000283006:p.Gly17Ala			Missense_Mutation	SNP	pfam_CENP-H	p.G17A	ENST00000283006.2	37	c.50	CCDS3998.1	5	.	.	.	.	.	.	.	.	.	.	G	11.35	1.611812	0.28712	.	.	ENSG00000153044	ENST00000283006;ENST00000515001	T;T	0.56776	0.44;0.44	4.19	0.113	0.14631	.	1.087950	0.07277	N	0.870186	T	0.29458	0.0734	N	0.24115	0.695	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.11329	0.006;0.006	T	0.22347	-1.0219	10	0.02654	T	1	-0.7759	3.3992	0.07317	0.0955:0.3545:0.3927:0.1573	.	17;17	B3KVZ3;Q9H3R5	.;CENPH_HUMAN	A	17	ENSP00000283006:G17A;ENSP00000426014:G17A	ENSP00000283006:G17A	G	+	2	0	CENPH	68521267	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	-0.021000	0.12504	-0.006000	0.14370	-0.300000	0.09419	GGA	CENPH	-	NULL	ENSG00000153044		0.677	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPH	HGNC	protein_coding	OTTHUMT00000215083.1	-	0	54	0	G			68485511	1	tier1	-	no_errors	ENST00000283006	ensembl	human	known	74_37	missense	25.29	65	22	SNP	0.000	C	C	68485511	G	C	68485511	3	2	184	1	0	0	0	0	1	0	0	0	3239	1174	41	5	52	5	CENPH	5	68485511	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	27633049	68485511	112429749	152	45829											
MRPS36	92259	genome.wustl.edu	37	chr5	68524143	68524143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtccaccagacactgcaGaaataataaaaacattacct	18	7	6	10	0	0	2	0	0	0	2	1	2	1	2	3	1	3	1	3	1	6	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:68524143G>A	ENST00000256441.4	+	3	293	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	MRPS36_ENST00000602380.1_Missense_Mutation_p.E10K|MRPS36_ENST00000512880.1_Missense_Mutation_p.E10K|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	75					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		AGACACTGCAGAAATAATAAA	0.378																																																	0													113	121	118					5																	68524143		2203	4300	6503	SO:0001583	missense	0				CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"Mitochondrial ribosomal proteins / small subunits"	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.223G>A	5.37:g.68524143G>A	ENSP00000256441:p.Glu75Lys		Q9H2H4	Missense_Mutation	SNP	NULL	p.E75K	ENST00000256441.4	37	c.223	CCDS34174.1	5	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754606	0.69648	.	.	ENSG00000134056	ENST00000256441;ENST00000512880	.	.	.	5.76	5.76	0.90799	.	0.261969	0.37761	N	0.001958	T	0.50650	0.1628	L	0.29908	0.895	0.42726	D	0.993699	B	0.34290	0.447	B	0.35413	0.202	T	0.52139	-0.8615	9	0.51188	T	0.08	-20.2748	18.7445	0.91787	0.0:0.0:1.0:0.0	.	75	P82909	RT36_HUMAN	K	75;10	.	ENSP00000256441:E75K	E	+	1	0	MRPS36	68559899	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.198000	0.72106	2.725000	0.93324	0.460000	0.39030	GAA	MRPS36	-	NULL	ENSG00000134056		0.378	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS36	HGNC	protein_coding	OTTHUMT00000368940.1	-	0	74	0	G	NM_033281		68524143	1	tier1	-	no_errors	ENST00000256441	ensembl	human	known	74_37	missense	29.63	57	24	SNP	1.000	A	A	68524143	G	A	68524143	3	1	184	1	0	0	0	0	1	0	0	0	9883	943	33	3	233	3	MRPS36	5	68524143	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	38632	68524143	112391117	153	45830											
BDP1	55814	genome.wustl.edu	37	chr5	70840330	70840330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagaagtaaacctaactGaaaggtaaaagagtgaagag	19	7	10	5	0	1	5	1	2	0	3	1	5	1	5	1	1	2	2	1	1	8	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:70840330G>A	ENST00000358731.4	+	31	6822	c.6559G>A	c.(6559-6561)Gaa>Aaa	p.E2187K	BDP1_ENST00000380675.2_Missense_Mutation_p.E323K	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2187					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)		AAACCTAACTGAAAGGTAAAA	0.398																																																	0													91	87	88					5																	70840330		1866	4093	5959	SO:0001583	missense	0			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.6559G>A	5.37:g.70840330G>A	ENSP00000351575:p.Glu2187Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E2187K	ENST00000358731.4	37	c.6559	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262122	0.59431	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.47869	3.74;0.83	5.24	-1.51	0.08664	.	0.609436	0.15571	N	0.255421	T	0.36690	0.0976	L	0.56769	1.78	0.09310	N	1	B;B	0.25955	0.017;0.138	B;B	0.24701	0.011;0.055	T	0.23476	-1.0187	10	0.33141	T	0.24	.	6.2381	0.20774	0.2373:0.373:0.3896:0.0	.	2187;2187	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	K	2187;1735;323;323	ENSP00000351575:E2187K;ENSP00000370050:E323K	ENSP00000351575:E2187K	E	+	1	0	BDP1	70876086	0.011000	0.17503	0.002000	0.10522	0.915000	0.54546	0.088000	0.14979	-0.194000	0.10399	-0.136000	0.14681	GAA	BDP1	-	NULL	ENSG00000145734		0.398	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	-	0	59	0	G	NM_018429		70840330	1	tier1	-	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	23.94	54	17	SNP	0.008	A	A	70840330	G	A	70840330	3	1	184	1	0	0	0	0	1	0	0	0	1396	1291	45	3	6681	3	BDP1	5	70840330	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2316187	70840330	110074930	154	45831											
PAPD4	167153	genome.wustl.edu	37	chr5	78940966	78940966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctacattgagagacctCagctgattcgagcaaaagtg	12	8	12	9	2	1	3	1	2	0	1	2	5	1	3	1	1	3	3	1	1	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:78940966C>A	ENST00000296783.3	+	9	1071	c.772C>A	c.(772-774)Cag>Aag	p.Q258K	PAPD4_ENST00000423041.2_Missense_Mutation_p.Q254K|PAPD4_ENST00000453514.1_Missense_Mutation_p.Q258K|PAPD4_ENST00000504233.1_Missense_Mutation_p.Q258K|PAPD4_ENST00000428308.2_Missense_Mutation_p.Q258K			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	258					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)		TGAGAGACCTCAGCTGATTCG	0.338																																																	0													91	93	92					5																	78940966		2203	4300	6503	SO:0001583	missense	0			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.772C>A	5.37:g.78940966C>A	ENSP00000296783:p.Gln258Lys		Q86WZ2|Q8N927	Missense_Mutation	SNP	pfam_PAP_assoc	p.Q258K	ENST00000296783.3	37	c.772	CCDS4048.1	5	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669501	0.88348	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.72	5.72	0.89469	.	0.114823	0.64402	D	0.000004	T	0.52306	0.1726	L	0.52759	1.655	0.54753	D	0.999988	B;P;D	0.62365	0.23;0.544;0.991	B;B;P	0.58820	0.122;0.241;0.846	T	0.39961	-0.9588	10	0.05959	T	0.93	-7.8654	19.8629	0.96790	0.0:1.0:0.0:0.0	.	258;254;258	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	K	258;254;258;258;258	ENSP00000397563:Q258K;ENSP00000393412:Q254K;ENSP00000421966:Q258K;ENSP00000396861:Q258K;ENSP00000296783:Q258K	ENSP00000296783:Q258K	Q	+	1	0	PAPD4	78976722	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.713000	0.68415	2.690000	0.91761	0.573000	0.79308	CAG	PAPD4	-	NULL	ENSG00000164329		0.338	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD4	HGNC	protein_coding	OTTHUMT00000226967.1	-	0	78	0	C	NM_173797		78940966	1	tier1	-	no_errors	ENST00000296783	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	A	A	78940966	C	A	78940966	3	1	184	1	0	0	0	0	1	0	0	0	11463	827	29	3	798	3	PAPD4	5	78940966	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	8100636	78940966	101974294	155	45832											
GPR98	84059	genome.wustl.edu	37	chr5	89949169	89949169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcagaagatgtcctgtctGaagatgatatgtcttatatt	11	15	10	5	0	2	5	0	2	2	3	3	5	3	5	1	1	0	1	1	1	5	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:89949169G>C	ENST00000405460.2	+	20	3874	c.3778G>C	c.(3778-3780)Gaa>Caa	p.E1260Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1260					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)		TGTCCTGTCTGAAGATGATAT	0.438																																																	0													117	110	112					5																	89949169		1959	4155	6114	SO:0001583	missense	0			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.3778G>C	5.37:g.89949169G>C	ENSP00000384582:p.Glu1260Gln		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E1260Q	ENST00000405460.2	37	c.3778	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.187194|4.187194	0.78789|0.78789	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.31769|.	1.48|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.144593|.	0.64402|.	D|.	0.000007|.	T|.	0.78400|.	0.4277|.	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.73708|.	0.981|.	T|.	0.75755|.	-0.3206|.	10|.	0.44086|.	T|.	0.13|.	.|.	20.5224|20.5224	0.99228|0.99228	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1260|.	Q8WXG9|.	GPR98_HUMAN|.	Q|S	1260|848	ENSP00000384582:E1260Q|.	ENSP00000296619:E1260Q|.	E|X	+|+	1|2	0|2	GPR98|GPR98	89984925|89984925	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.891000|0.891000	0.51852|0.51852	6.285000|6.285000	0.72658|0.72658	2.927000|2.927000	0.99377|0.99377	0.637000|0.637000	0.83480|0.83480	GAA|TGA	GPR98	-	NULL	ENSG00000164199		0.438	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	42	0	G	NM_032119		89949169	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	15.87	53	10	SNP	1.000	C	C	89949169	G	C	89949169	3	2	184	1	0	0	0	0	1	0	0	0	6748	1291	45	5	3856	5	GPR98	5	89949169	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	11008203	89949169	90966091	156	45833											
SLCO6A1	133482	genome.wustl.edu	37	chr5	101794130	101794130	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatattagttccaagtttcaGatctttaagtctgctgtcaa	11	16	7	7	0	4	1	2	0	2	1	5	2	5	1	1	0	1	3	1	0	5	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:101794130G>A	ENST00000506729.1	-	6	1258	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	SLCO6A1_ENST00000389019.3_Silent_p.L301L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Silent_p.L363L|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	363						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCAAGTTTCAGATCTTTAAGT	0.299																																																	0													136	137	137					5																	101794130		2202	4295	6497	SO:0001819	synonymous_variant	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1087C>T	5.37:g.101794130G>A			A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.L363	ENST00000506729.1	37	c.1087	CCDS34206.1	5																																																																																			SLCO6A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000205359		0.299	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	-	0	123	0	G	NM_173488		101794130	-1	tier1	-	no_errors	ENST00000379807	ensembl	human	known	74_37	silent	13.04	120	18	SNP	0.000	A	A	101794130	G	A	101794130	2	1	184	1	0	0	0	0	0	0	0	1	14777	933	33	3		3	SLCO6A1	5	101794130	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	11844961	101794130	79121130	157	45834											
SRFBP1	153443	genome.wustl.edu	37	chr5	121356415	121356415	+	Missense_Mutation	SNP	G	G	C																															ctcatggggatacaagaaatGacaaaatcaagccaagtaca																										TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:121356415G>C	ENST00000339397.4	+	6	1057	c.985G>C	c.(985-987)Gac>Cac	p.D329H	SRFBP1_ENST00000504881.1_3'UTR	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)		TACAAGAAATGACAAAATCAA	0.338																																																	0													62	57	59					5																	121356415		1829	4084	5913	SO:0001583	missense	0			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.985G>C	5.37:g.121356415G>C	ENSP00000341324:p.Asp329His			Missense_Mutation	SNP	pfam_Bud-site_select_BUD22	p.D329H	ENST00000339397.4	37	c.985	CCDS43354.1	5	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671079	0.47781	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.33	3.42	0.39159	.	0.448128	0.25919	N	0.027448	T	0.49949	0.1587	L	0.56769	1.78	0.09310	N	1	D	0.65815	0.995	P	0.57371	0.819	T	0.35574	-0.9783	9	0.54805	T	0.06	-13.3211	7.9078	0.29771	0.1472:0.1341:0.7187:0.0	.	329	Q8NEF9	SRFB1_HUMAN	H	329	.	ENSP00000341324:D329H	D	+	1	0	SRFBP1	121384314	0.005000	0.15991	0.076000	0.20297	0.075000	0.17131	1.289000	0.33307	1.373000	0.46208	0.563000	0.77884	GAC	SRFBP1	-	NULL	ENSG00000151304		0.338	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRFBP1	HGNC	protein_coding	OTTHUMT00000371200.1	-	0	49	0	G	NM_152546		121356415	1	tier1	-	no_errors	ENST00000339397	ensembl	human	known	74_37	missense	21.05	45	12	SNP	0.006	C	C	121356415	G	C	121356415	3	2	184	1	0	0	0	0	1	0	0	0	15191	1290	45	5	1007	5	SRFBP1	5	121356415	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	19562285	121356415	59558845	158	45835	158	2									
SRFBP1	153443	genome.wustl.edu	37	chr5	121356424	121356424	+	Missense_Mutation	SNP	A	A	C																															atacaagaaatgacaaaatcAagccaagtacagaaaccaga																										TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:121356424A>C	ENST00000339397.4	+	6	1066	c.994A>C	c.(994-996)Aag>Cag	p.K332Q	SRFBP1_ENST00000504881.1_3'UTR	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)		TGACAAAATCAAGCCAAGTAC	0.328																																																	0													62	57	59					5																	121356424		1829	4085	5914	SO:0001583	missense	0			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.994A>C	5.37:g.121356424A>C	ENSP00000341324:p.Lys332Gln			Missense_Mutation	SNP	pfam_Bud-site_select_BUD22	p.K332Q	ENST00000339397.4	37	c.994	CCDS43354.1	5	.	.	.	.	.	.	.	.	.	.	A	11.53	1.667045	0.29604	.	.	ENSG00000151304	ENST00000339397	.	.	.	4.81	3.62	0.41486	.	0.782103	0.12855	N	0.433644	T	0.38799	0.1054	M	0.64997	1.995	0.09310	N	1	P	0.38195	0.622	B	0.32762	0.152	T	0.21965	-1.0230	9	0.54805	T	0.06	-1.6557	11.0111	0.47663	0.8438:0.1562:0.0:0.0	.	332	Q8NEF9	SRFB1_HUMAN	Q	332	.	ENSP00000341324:K332Q	K	+	1	0	SRFBP1	121384323	0.004000	0.15560	0.018000	0.16275	0.021000	0.10359	1.395000	0.34520	0.908000	0.36671	0.460000	0.39030	AAG	SRFBP1	-	NULL	ENSG00000151304		0.328	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRFBP1	HGNC	protein_coding	OTTHUMT00000371200.1	-	0	43	0	A	NM_152546		121356424	1	tier1	-	no_errors	ENST00000339397	ensembl	human	known	74_37	missense	20.00	44	11	SNP	0.002	C	C	121356424	A	C	121356424	3	2	184	1	0	0	0	0	1	0	0	0	15191	131	5	4	1016	4	SRFBP1	5	121356424	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	9	121356424	59558836	159	45836	158	2									
ZNF608	57507	genome.wustl.edu	37	chr5	124079853	124079853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctttaccaacatagagtttCccatgagccctgaatccggg	10	11	8	12	1	1	3	0	2	1	1	3	3	3	3	4	1	3	1	4	1	4	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:124079853C>T	ENST00000306315.5	-	1	1265	c.830G>A	c.(829-831)gGa>gAa	p.G277E	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	277							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CATAGAGTTTCCCATGAGCCC	0.567																																																	0													130	138	136					5																	124079853		2142	4179	6321	SO:0001583	missense	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.830G>A	5.37:g.124079853C>T	ENSP00000307746:p.Gly277Glu		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.G277E	ENST00000306315.5	37	c.830	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048557	0.75846	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.46063	0.88	5.08	4.21	0.49690	.	0.419165	0.20442	N	0.092264	T	0.30603	0.0770	L	0.27053	0.805	0.44668	D	0.997656	B	0.11235	0.004	B	0.17433	0.018	T	0.05484	-1.0882	10	0.23891	T	0.37	-9.0762	13.23	0.59938	0.0:0.9218:0.0:0.0782	.	277	Q9ULD9	ZN608_HUMAN	E	277	ENSP00000307746:G277E	ENSP00000307746:G277E	G	-	2	0	ZNF608	124107752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.559000	0.53756	1.261000	0.44149	0.655000	0.94253	GGA	ZNF608	-	NULL	ENSG00000168916		0.567	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1		0	32	0	C	XM_114432		124079853	-1			no_errors	ENST00000306315	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	124079853	C	T	124079853	3	4	184	1	0	0	0	0	1	0	0	0	18082	855	30	3	3744	3	ZNF608	5	124079853	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2723429	124079853	56835407	160	45837											
PRRC1	133619	genome.wustl.edu	37	chr5	126887539	126887539	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgggatgtcccgtcggcaGatgatctacagtgcagccag	9	8	13	11	2	1	2	0	1	1	1	3	3	2	3	2	2	3	2	2	2	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:126887539G>C	ENST00000296666.8	+	9	1457	c.1269G>C	c.(1267-1269)caG>caC	p.Q423H	PRRC1_ENST00000512635.2_Missense_Mutation_p.Q423H|PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000513427.1_3'UTR	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	423						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		CCCGTCGGCAGATGATCTACA	0.537																																																	0													102	101	101					5																	126887539		2203	4300	6503	SO:0001583	missense	0			AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1269G>C	5.37:g.126887539G>C	ENSP00000296666:p.Gln423His		Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	pfam_NTPase/PRRC1	p.Q423H	ENST00000296666.8	37	c.1269	CCDS4143.1	5	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464053	0.63513	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.36	4.42	0.53409	.	0.118236	0.64402	D	0.000014	T	0.63698	0.2533	L	0.50333	1.59	0.44295	D	0.997164	D	0.63880	0.993	P	0.56042	0.79	T	0.63065	-0.6720	9	0.46703	T	0.11	-3.6518	13.5531	0.61745	0.0854:0.0:0.9146:0.0	.	423	Q96M27	PRRC1_HUMAN	H	423	.	ENSP00000296666:Q423H	Q	+	3	2	PRRC1	126915438	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.649000	0.37281	2.788000	0.95919	0.557000	0.71058	CAG	PRRC1	-	NULL	ENSG00000164244		0.537	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC1	HGNC	protein_coding	OTTHUMT00000250971.3	-	0	34	0	G	NM_130809		126887539	1	tier1	-	no_errors	ENST00000512635	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	C	C	126887539	G	C	126887539	3	2	184	1	0	0	0	0	1	0	0	0	12646	933	33	5	1299	5	PRRC1	5	126887539	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2807686	126887539	54027721	161	45838											
RAPGEF6	51735	genome.wustl.edu	37	chr5	130764605	130764605	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaacataccatctgcttcGctatctgcatcagtcacatc	10	12	5	14	1	5	0	3	0	2	0	7	0	5	0	1	0	4	3	1	0	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:130764605G>A	ENST00000509018.1	-	27	4975	c.4770C>T	c.(4768-4770)agC>agT	p.S1590S	CTC-432M15.3_ENST00000514667.1_Silent_p.S1640S|RAPGEF6_ENST00000296859.6_Silent_p.S1598S|RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000507093.1_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1590					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)	p.S1590S(1)		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)		CATCTGCTTCGCTATCTGCAT	0.398																																					Melanoma(168;435 1955 13113 13877 23213)												1	Substitution - coding silent(1)	endometrium(1)											116	109	112					5																	130764605		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4770C>T	5.37:g.130764605G>A			A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S1590	ENST00000509018.1	37	c.4770	CCDS34225.1	5																																																																																			RAPGEF6	-	NULL	ENSG00000158987		0.398	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1		0	28	0	G	NM_016340		130764605	-1			no_errors	ENST00000509018	ensembl	human	known	74_37	silent	13.64	19	3	SNP	1.000	A	A	130764605	G	A	130764605	2	1	184	1	0	0	0	0	0	0	0	1	13093	1078	38	1		1	RAPGEF6	5	130764605	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3877066	130764605	50150655	162	45839											
SEC24A	10802	genome.wustl.edu	37	chr5	134007552	134007552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtccacagtagttacgacGagattgaaggaggtggctta	11	10	14	6	2	0	2	0	1	0	1	1	5	1	3	1	4	1	3	1	4	4	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:134007552G>A	ENST00000398844.2	+	4	1081	c.793G>A	c.(793-795)Gag>Aag	p.E265K	SEC24A_ENST00000322887.4_Missense_Mutation_p.E265K	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	265					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)			TAGTTACGACGAGATTGAAGG	0.308																																																	0													137	122	127					5																	134007552		1848	4094	5942	SO:0001583	missense	0			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.793G>A	5.37:g.134007552G>A	ENSP00000381823:p.Glu265Lys		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.E265K	ENST00000398844.2	37	c.793	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149535	0.37923	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	T;T	0.41758	1.22;0.99	5.28	4.21	0.49690	.	0.701868	0.14283	N	0.329413	T	0.23846	0.0577	L	0.36672	1.1	0.28102	N	0.931374	P	0.38370	0.628	B	0.24155	0.051	T	0.08743	-1.0707	10	0.07325	T	0.83	-12.8437	10.7932	0.46445	0.1539:0.0:0.8461:0.0	.	265	O95486	SC24A_HUMAN	K	265	ENSP00000381823:E265K;ENSP00000321749:E265K	ENSP00000321749:E265K	E	+	1	0	SEC24A	134035451	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.037000	0.41174	2.464000	0.83262	0.591000	0.81541	GAG	SEC24A	-	NULL	ENSG00000113615		0.308	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	-	0	81	0	G			134007552	1	tier1	-	no_errors	ENST00000398844	ensembl	human	known	74_37	missense	17.44	71	15	SNP	1.000	A	A	134007552	G	A	134007552	3	1	184	1	0	0	0	0	1	0	0	0	14039	1059	37	1	807	1	SEC24A	5	134007552	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3242947	134007552	46907708	163	45840											
PCDHGA1	56114	genome.wustl.edu	37	chr5	140710522	140710522	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatcaccgcgcgcaggataGaccgggaggagctctgcgct	8	6	15	12	5	2	2	1	1	1	1	2	5	2	5	2	3	2	3	2	3	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:140710522G>C	ENST00000517417.1	+	1	271	c.271G>C	c.(271-273)Gac>Cac	p.D91H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D91H|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	91	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D91N(2)		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)			GCGCAGGATAGACCGGGAGGA	0.512																																																	2	Substitution - Missense(2)	lung(2)											110	123	118					5																	140710522		2203	4300	6503	SO:0001583	missense	0			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.271G>C	5.37:g.140710522G>C	ENSP00000431083:p.Asp91His		Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D91H	ENST00000517417.1	37	c.271	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164981	0.78339	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.53640	0.61;0.61	4.37	4.37	0.52481	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.51477	D	0.000085	D	0.83552	0.5279	H	0.99874	4.875	0.43355	D	0.995425	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91743	0.5406	10	0.87932	D	0	.	17.0903	0.86620	0.0:0.0:1.0:0.0	.	91;91	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	H	91	ENSP00000431083:D91H;ENSP00000367345:D91H	ENSP00000367345:D91H	D	+	1	0	PCDHGA1	140690706	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.601000	0.98297	2.432000	0.82394	0.655000	0.94253	GAC	PCDHGA1	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000204956		0.512	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	-	0	29	0	G	NM_018912		140710522	1	tier1	-	no_errors	ENST00000517417	ensembl	human	known	74_37	missense	15.62	27	5	SNP	1.000	C	C	140710522	G	C	140710522	3	2	184	1	0	0	0	0	1	0	0	0	11589	942	33	5	273	5	PCDHGA1	5	140710522	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	6702970	140710522	40204738	164	45841											
PCDHGA3	56112	genome.wustl.edu	37	chr5	140723799	140723799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcgcggagtccgcatcGtctccagaggtaggacgcag	8	5	16	12	6	1	1	0	0	1	1	4	4	2	4	2	4	1	3	2	4	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:140723799G>A	ENST00000253812.6	+	1	199	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	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	67	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)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCGCATCGTCTCCAGAGG	0.617											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													75	88	83					5																	140723799		2177	4291	6468	SO:0001583	missense	0			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.199G>A	5.37:g.140723799G>A	ENSP00000253812:p.Val67Ile	1658	Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V67I	ENST00000253812.6	37	c.199	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	9.145	1.014702	0.19355	.	.	ENSG00000254245	ENST00000253812	T	0.30714	1.52	5.65	1.84	0.25277	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.279637	0.18363	N	0.143518	T	0.23014	0.0556	L	0.54323	1.7	0.20074	N	0.999931	B;B	0.31680	0.335;0.019	B;B	0.27500	0.075;0.08	T	0.12091	-1.0561	10	0.30078	T	0.28	.	6.289	0.21049	0.29:0.1242:0.5858:0.0	.	67;67	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	I	67	ENSP00000253812:V67I	ENSP00000253812:V67I	V	+	1	0	PCDHGA3	140703983	0.000000	0.05858	1.000000	0.80357	0.398000	0.30690	-0.126000	0.10563	0.407000	0.25591	0.655000	0.94253	GTC	PCDHGA3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254245		0.617	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	-	0	51	0	G	NM_018916		140723799	1	tier1	-	no_errors	ENST00000253812	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.964	A	A	140723799	G	A	140723799	3	1	184	1	0	0	0	0	1	0	0	0	11594	1145	40	1	201	1	PCDHGA3	5	140723799	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	13277	140723799	40191461	165	45842											
PCDHGA9	56107	genome.wustl.edu	37	chr5	140783516	140783516	+	Missense_Mutation	SNP	G	G	C	0	0	1	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	gattgaaagggtggacaaaaGtgctcatttcggtggaagat	13	10	14	4	1	1	2	1	1	0	1	2	5	1	4	0	4	1	1	0	4	4	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:140783516G>C	ENST00000573521.1	+	1	997	c.997G>C	c.(997-999)Gtg>Ctg	p.V333L	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|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	333	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGACAAAAGTGCTCATTTC	0.398																																																	0													146	146	146					5																	140783516		1943	4139	6082	SO:0001583	missense	0			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.997G>C	5.37:g.140783516G>C	ENSP00000460274:p.Val333Leu		A2RU65|Q9Y5C9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V333L	ENST00000573521.1	37	c.997	CCDS58981.1	5																																																																																			PCDHGA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000261934		0.398	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	-	0	59	0	G	NM_018921		140783516	1	tier1	-	no_errors	ENST00000573521	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	C	C	140783516	G	C	140783516	3	2	184	1	0	0	0	0	1	0	0	0	11600	1029	36	5	999	5	PCDHGA9	5	140783516	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	59717	140783516	40131744	166	45843											
PCDHGB7	56099	genome.wustl.edu	37	chr5	140798107	140798107	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccgaagcggtactgctcaGataagaatcctggtaataga	13	8	10	10	2	1	3	1	0	0	3	2	4	2	3	3	2	3	3	3	2	6	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:140798107G>C	ENST00000398594.2	+	1	681	c.681G>C	c.(679-681)caG>caC	p.Q227H	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	227	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACTGCTCAGATAAGAATCC	0.557																																																	0													84	85	84					5																	140798107		1969	4169	6138	SO:0001583	missense	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.681G>C	5.37:g.140798107G>C	ENSP00000381594:p.Gln227His		Q9UN63	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q227H	ENST00000398594.2	37	c.681	CCDS47293.1	5	.	.	.	.	.	.	.	.	.	.	g	8.975	0.973886	0.18736	.	.	ENSG00000254122	ENST00000398594	T	0.54279	0.58	5.7	2.53	0.30540	Cadherin (4);Cadherin-like (1);	0.667503	0.11132	U	0.596254	T	0.51873	0.1700	M	0.70275	2.135	0.22066	N	0.999383	B;B	0.20459	0.045;0.036	B;B	0.26614	0.071;0.042	T	0.46624	-0.9178	10	0.35671	T	0.21	.	9.427	0.38586	0.3725:0.0:0.6275:0.0	.	227;227	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	H	227	ENSP00000381594:Q227H	ENSP00000381594:Q227H	Q	+	3	2	PCDHGB7	140778291	0.000000	0.05858	0.953000	0.39169	0.805000	0.45488	-0.556000	0.05992	0.780000	0.33566	0.561000	0.74099	CAG	PCDHGB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254122		0.557	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	-	0	83	0	G	NM_018927		140798107	1	tier1	-	no_errors	ENST00000398594	ensembl	human	known	74_37	missense	10.94	57	7	SNP	0.981	C	C	140798107	G	C	140798107	3	2	184	1	0	0	0	0	1	0	0	0	11607	933	33	5	683	5	PCDHGB7	5	140798107	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	14591	140798107	40117153	167	45844											
PPP2R2B	5521	genome.wustl.edu	37	chr5	145972589	145972589	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaatgcagtcattttcatAgagggaacacagcttgctgc	14	10	9	8	0	2	1	2	0	0	1	2	2	2	2	0	1	5	3	0	1	4	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:145972589A>G	ENST00000394413.3	-	8	1567	c.997T>C	c.(997-999)Tat>Cat	p.Y333H	PPP2R2B_ENST00000504198.1_Missense_Mutation_p.Y339H|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.Y391H|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.Y336H|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.Y399H|PPP2R2B_ENST00000530902.1_5'UTR|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.Y333H|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.Y333H|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.Y322H|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.Y333H|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.Y322H			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	333					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATTTTCATAGAGGGAACAC	0.403																																																	0													149	160	156					5																	145972589		2203	4300	6503	SO:0001583	missense	0			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.997T>C	5.37:g.145972589A>G	ENSP00000377935:p.Tyr333His		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.Y399H	ENST00000394413.3	37	c.1195	CCDS4284.1	5	.	.	.	.	.	.	.	.	.	.	A	15.15	2.746765	0.49257	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.77620	-1.11;-1.1;1.11;-1.11;-1.11;-1.11;-1.1;-1.11;-1.11;1.11	5.39	4.23	0.50019	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	M	0.89658	3.05	0.80722	D	1	P;B;B;P;P;B	0.37864	0.489;0.224;0.102;0.489;0.61;0.102	B;B;B;B;B;B	0.41374	0.152;0.184;0.119;0.355;0.351;0.184	D	0.84144	0.0419	10	0.87932	D	0	-16.6667	11.3715	0.49702	0.9293:0.0:0.0707:0.0	.	391;339;322;399;336;333	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	H	333;322;399;333;333;333;322;336;339;391	ENSP00000377935:Y333H;ENSP00000431320:Y322H;ENSP00000377936:Y399H;ENSP00000377933:Y333H;ENSP00000349283:Y333H;ENSP00000398779:Y333H;ENSP00000377932:Y322H;ENSP00000336591:Y336H;ENSP00000421396:Y339H;ENSP00000377931:Y391H	ENSP00000336591:Y336H	Y	-	1	0	AC011357.1	145952782	1.000000	0.71417	0.997000	0.53966	0.193000	0.23685	9.073000	0.93992	1.060000	0.40578	-0.290000	0.09829	TAT	PPP2R2B	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55	ENSG00000156475		0.403	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	HGNC	protein_coding	OTTHUMT00000251893.2	-	0	40	0	A	NM_181678		145972589	-1	tier1	-	no_errors	ENST00000394414	ensembl	human	known	74_37	missense	18.37	40	9	SNP	1.000	G	G	145972589	A	G	145972589	3	3	184	1	0	0	0	0	1	0	0	0	12427	420	15	4	342	4	PPP2R2B	5	145972589	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	5174482	145972589	34942671	168	45845											
CYFIP2	26999	genome.wustl.edu	37	chr5	156752515	156752515	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcagcagtgttgtgacctCtcccagctctggttccgaga	6	11	11	13	1	2	2	0	1	2	1	4	3	3	2	3	1	3	5	3	1	0	2	rs367974123		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:156752515C>G	ENST00000521420.1	+	16	1864	c.1773C>G	c.(1771-1773)ctC>ctG	p.L591L	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Silent_p.L421L|CYFIP2_ENST00000541131.1_Silent_p.L542L|CYFIP2_ENST00000435847.2_Silent_p.L316L|CYFIP2_ENST00000347377.6_Silent_p.L617L|CYFIP2_ENST00000318218.6_Silent_p.L642L|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000377576.3_Silent_p.L617L					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)			GTTGTGACCTCTCCCAGCTCT	0.458																																																	0								C	,,	0,4112		0,0,2056	71	71	71		1851,1851,1851	-2.4	1	5		71	1,8463		0,1,4231	no	coding-synonymous,coding-synonymous,coding-synonymous	CYFIP2	NM_001037332.2,NM_001037333.1,NM_014376.2	,,	0,1,6287	GG,GC,CC		0.0118,0.0,0.0080	,,	617/1254,617/1254,617/1254	156752515	1,12575	2056	4232	6288	SO:0001819	synonymous_variant	0			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.1773C>G	5.37:g.156752515C>G				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.L642	ENST00000521420.1	37	c.1926		5																																																																																			CYFIP2	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	ENSG00000055163		0.458	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	-	0	49	0	C	NM_001037332		156752515	1	tier1	-	no_errors	ENST00000318218	ensembl	human	known	74_37	silent	20.51	62	16	SNP	0.963	G	G	156752515	C	G	156752515	2	3	184	1	0	0	0	0	0	0	0	1	4147	900	32	5		5	CYFIP2	5	156752515	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	10779926	156752515	24162745	169	45846											
MXD3	83463	genome.wustl.edu	37	chr5	176734640	176734640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgctcctggccggcgacGaagccccgcagcagctcggc	5	5	14	17	5	0	0	0	0	0	0	2	2	1	0	4	3	4	4	4	3	1	0	rs533160184		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:176734640G>A	ENST00000439742.2	-	6	1048	c.570C>T	c.(568-570)ttC>ttT	p.F190F	MXD3_ENST00000427908.2_Intron|MXD3_ENST00000513063.1_Silent_p.F190F|MXD3_ENST00000423571.2_Missense_Mutation_p.S216L	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	190					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)			GGCCGGCGACGAAGCCCCGCA	0.697													G|||	1	0.000199681	0	0	5008	,	,		15356	0		0.001	False		,,,				2504	0																0													29	33	32					5																	176734640		2203	4299	6502	SO:0001819	synonymous_variant	0			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.570C>T	5.37:g.176734640G>A			B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S216L	ENST00000439742.2	37	c.647	CCDS4416.1	5	.	.	.	.	.	.	.	.	.	.	G	15.46	2.838743	0.51057	.	.	ENSG00000213347	ENST00000423571	T	0.36340	1.26	5.11	4.24	0.50183	.	.	.	.	.	T	0.27559	0.0677	.	.	.	0.80722	D	1	P	0.35363	0.497	B	0.24155	0.051	T	0.10451	-1.0629	8	0.87932	D	0	.	11.5732	0.50845	0.15:0.0:0.85:0.0	.	216	B4E0J1	.	L	216	ENSP00000389716:S216L	ENSP00000389716:S216L	S	-	2	0	MXD3	176667246	1.000000	0.71417	0.859000	0.33776	0.004000	0.04260	1.269000	0.33074	1.141000	0.42275	0.561000	0.74099	TCG	MXD3	-	NULL	ENSG00000213347		0.697	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXD3	HGNC	protein_coding	OTTHUMT00000253427.1	-	0	69	0	G			176734640	-1	tier1	-	no_errors	ENST00000423571	ensembl	human	putative	74_37	missense	20.00	48	12	SNP	1.000	A	A	176734640	G	A	176734640	2	1	184	1	0	0	0	0	0	0	0	1	10038	1049	37	1		1	MXD3	5	176734640	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	19982125	176734640	4180620	170	45847											
RMND5B	64777	genome.wustl.edu	37	chr5	177573128	177573128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtagagatccaggtgatGatgggcagcctggtgtacct	8	11	14	8	0	0	3	0	2	0	1	1	4	1	3	3	3	2	3	3	3	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:177573128G>A	ENST00000515098.1	+	9	1059	c.708G>A	c.(706-708)atG>atA	p.M236I	RMND5B_ENST00000313386.4_Missense_Mutation_p.M236I|RMND5B_ENST00000542098.1_Missense_Mutation_p.M223I			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	236										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			TCCAGGTGATGATGGGCAGCC	0.632											OREG0017097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													45	43	44					5																	177573128		2203	4300	6503	SO:0001583	missense	0			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.708G>A	5.37:g.177573128G>A	ENSP00000420875:p.Met236Ile	1939	Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.M236I	ENST00000515098.1	37	c.708	CCDS4431.1	5	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573260	0.45902	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.65	5.65	0.86999	Ran binding protein-like, CRA domain (1);	0.054014	0.85682	D	0.000000	T	0.33059	0.0850	N	0.08118	0	0.37243	D	0.90621	B;B;B	0.12013	0.005;0.004;0.005	B;B;B	0.14023	0.007;0.004;0.01	T	0.27365	-1.0076	9	0.45353	T	0.12	-40.8591	12.2016	0.54328	0.0:0.0:0.8297:0.1703	.	223;223;236	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	I	236;236;223	.	ENSP00000320623:M236I	M	+	3	0	RMND5B	177505734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.345000	0.52182	2.659000	0.90383	0.655000	0.94253	ATG	RMND5B	-	smart_CRA_dom	ENSG00000145916		0.632	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RMND5B	HGNC	protein_coding	OTTHUMT00000373542.1	-	0	60	0	G	NM_022762		177573128	1	tier1	-	no_errors	ENST00000313386	ensembl	human	known	74_37	missense	18.60	35	8	SNP	1.000	A	A	177573128	G	A	177573128	3	1	184	1	0	0	0	0	1	0	0	0	13443	1290	45	3	730	3	RMND5B	5	177573128	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	838488	177573128	3342132	171	45848											
HNRNPH1	3187	genome.wustl.edu	37	chr5	179047895	179047895	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaacatgactacatacctGagaagaactgaacaatttct	18	9	5	9	0	1	4	0	3	1	2	1	5	1	4	1	0	5	0	1	0	7	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:179047895G>C	ENST00000356731.5	-	3	1930	c.395C>G	c.(394-396)tCa>tGa	p.S132*	HNRNPH1_ENST00000511300.2_5'Flank|HNRNPH1_ENST00000510411.1_Nonsense_Mutation_p.S132*|HNRNPH1_ENST00000393432.4_Nonsense_Mutation_p.S132*|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000329433.6_Nonsense_Mutation_p.S132*|HNRNPH1_ENST00000442819.2_Nonsense_Mutation_p.S132*			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	132	RRM 2. {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)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CTACATACCTGAGAAGAACTG	0.418																																																	0													114	102	106					5																	179047895		2203	4300	6503	SO:0001587	stop_gained	0			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.395C>G	5.37:g.179047895G>C	ENSP00000349168:p.Ser132*		B3KW86|D3DWQ2|Q6IBM4	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.S132*	ENST00000356731.5	37	c.395	CCDS4446.1	5	.	.	.	.	.	.	.	.	.	.	g	28.9	4.959971	0.92791	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000503105;ENST00000508103;ENST00000506721;ENST00000505811;ENST00000510431;ENST00000519056;ENST00000521790;ENST00000504348;ENST00000513225	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.6473	19.0418	0.93002	0.0:0.0:1.0:0.0	.	.	.	.	X	132;132;132;132;132;132;132;132;132;132;80;55;132;132	.	ENSP00000327539:S132X	S	-	2	0	HNRNPH1	178980501	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.510000	0.84645	0.467000	0.42956	TCA	HNRNPH1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000169045		0.418	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HNRNPH1	HGNC	protein_coding	OTTHUMT00000253497.3	-	0	51	0	G	NM_005520		179047895	-1	tier1	-	no_errors	ENST00000356731	ensembl	human	known	74_37	nonsense	15.56	38	7	SNP	1.000	C	C	179047895	G	C	179047895	4	2	184	1	0	0	0	0	0	1	0	0	7293	1294	45	5	994	5	HNRNPH1	5	179047895	Nonsense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1474767	179047895	1867365	172	45849											
CANX	821	genome.wustl.edu	37	chr5	179150701	179150701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgaggcagctgaagagcGcccgtggctgtgggtagtct	7	8	17	9	3	1	2	0	1	1	1	2	4	1	2	1	3	2	4	1	3	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr5:179150701G>A	ENST00000247461.4	+	12	1639	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	CANX_ENST00000512607.2_Missense_Mutation_p.R372H|CANX_ENST00000504734.1_Missense_Mutation_p.R480H|CANX_ENST00000415618.2_Missense_Mutation_p.R515H|CANX_ENST00000452673.2_Missense_Mutation_p.R480H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	480				R -> L (in Ref. 10; AAA35696). {ECO:0000305}.	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)	GCTGAAGAGCGCCCGTGGCTG	0.483																																																	0													143	142	142					5																	179150701		2203	4300	6503	SO:0001583	missense	0			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.1439G>A	5.37:g.179150701G>A	ENSP00000247461:p.Arg480His		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	p.R515H	ENST00000247461.4	37	c.1544	CCDS4447.1	5	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081983	0.36758	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.55052	0.56;0.54;0.56;0.56;0.6	5.91	5.03	0.67393	.	0.107588	0.64402	D	0.000007	T	0.49167	0.1541	L	0.58810	1.83	0.58432	D	0.999999	B;B	0.22003	0.063;0.063	B;B	0.15870	0.014;0.008	T	0.43196	-0.9406	10	0.20046	T	0.44	-9.2279	16.218	0.82241	0.0:0.0:0.8659:0.1341	.	515;480	B4DGP8;P27824	.;CALX_HUMAN	H	480;515;480;480;372	ENSP00000424063:R480H;ENSP00000394817:R515H;ENSP00000391646:R480H;ENSP00000247461:R480H;ENSP00000423588:R372H	ENSP00000247461:R480H	R	+	2	0	CANX	179083307	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	7.894000	0.87336	1.500000	0.48636	-0.320000	0.08662	CGC	CANX	-	NULL	ENSG00000127022		0.483	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	HGNC	protein_coding	OTTHUMT00000253500.2	-	0	50	0	G	NM_001024649		179150701	1	tier1	-	no_errors	ENST00000415618	ensembl	human	known	74_37	missense	8.45	65	6	SNP	1.000	A	A	179150701	G	A	179150701	3	1	184	1	0	0	0	0	1	0	0	0	2625	1087	38	1	1481	1	CANX	5	179150701	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	102806	179150701	1764559	173	45850											
ZSCAN12	9753	genome.wustl.edu	37	chr6	28360708	28360708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgggattcaagttctggaGattcatactttggctgggct	7	15	13	6	0	3	1	2	0	1	1	3	3	3	2	0	4	1	4	0	4	2	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:28360708G>A	ENST00000361028.1	-	3	663	c.518C>T	c.(517-519)tCt>tTt	p.S173F	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.S173F			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	173					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						AAGTTCTGGAGATTCATACTT	0.478																																																	0													171	140	149					6																	28360708		692	1591	2283	SO:0001583	missense	0			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.518C>T	6.37:g.28360708G>A	ENSP00000354305:p.Ser173Phe		O43724	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S173F	ENST00000361028.1	37	c.518		6	.	.	.	.	.	.	.	.	.	.	G	6.728	0.503105	0.12822	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.07908	3.15;3.15	3.25	1.35	0.21983	.	.	.	.	.	T	0.01558	0.0050	L	0.27053	0.805	0.09310	N	1	B;B	0.34015	0.435;0.435	B;B	0.27170	0.077;0.077	T	0.45483	-0.9258	9	0.66056	D	0.02	.	4.1376	0.10178	0.145:0.2426:0.6124:0.0	.	173;173	A8K187;O43309	.;ZSC12_HUMAN	F	173	ENSP00000354305:S173F;ENSP00000380039:S173F	ENSP00000354305:S173F	S	-	2	0	ZSCAN12	28468687	0.000000	0.05858	0.002000	0.10522	0.399000	0.30720	0.300000	0.19156	0.185000	0.20105	0.655000	0.94253	TCT	ZSCAN12	-	NULL	ENSG00000158691		0.478	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	ZSCAN12	HGNC	protein_coding	OTTHUMT00000040190.1	-	0	71	0	G	NM_014724		28360708	-1	tier1	-	no_errors	ENST00000361028	ensembl	human	known	74_37	missense	25.86	43	15	SNP	0.015	A	A	28360708	G	A	28360708	3	1	184	1	0	0	0	0	1	0	0	0	18276	942	33	3	1325	3	ZSCAN12	6	28360708	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09		28360708	142754359	174	45851											
HLA-B	3106	genome.wustl.edu	37	chr6	31324463	31324464	+	Splice_Site	DNP	AC	AC	GA																															gccccgggccggggtcactcAccggcctcgctctggttgta																										TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:31324463_31324464AC>GA	ENST00000412585.2	-	2	372		c.e2+1			NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.?(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGGGTCACTCACCGGCCTCGCT	0.683									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								1	Unknown(1)	upper_aerodigestive_tract(1)																																								SO:0001630	splice_region_variant	0	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.344_344delinsGA	6.37:g.31324463_31324464delinsGA			Q29764	Splice_Site	SNP	-	e2+2|e2+1	ENST00000412585.2	37	c.343+2|c.343+1	CCDS34394.1	6																																																																																			HLA-B	-	-	ENSG00000234745		0.683	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	-	0	45	0	A|C	NM_005514	Intron	31324463|31324464	-1	tier1	-	no_errors	ENST00000412585	ensembl	human	known	74_37	splice_site	19.30|18.64	46|48	11	SNP	1.000	G|A	GA	31324464	AC	GA	31324463	5	3	184	1	0	0	0	0	0	0	1	0	7223	173	6	4	767	4	HLA-B	6	31324463	Splice_Site	DNP	AC	TCGA-Z6-AAPN-01A-11D-A403-09	2963755	31324463	139790604	175	45852											
BAT3	7917	genome.wustl.edu	37	chr6	31615559	31615559	+	Silent	SNP	C	C	T	0	0	0	1	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	tccggggtcacagccggtggCtgcgggggcggctgactgtg	3	7	20	11	4	1	1	1	1	0	0	2	1	2	1	2	7	2	2	2	7	0	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:31615559C>T	ENST00000375964.6	-	7	928	c.615G>A	c.(613-615)caG>caA	p.Q205Q	BAG6_ENST00000362049.6_Silent_p.Q199Q|BAG6_ENST00000404765.2_Silent_p.Q199Q|BAG6_ENST00000211379.5_Silent_p.Q199Q|BAG6_ENST00000439687.2_Silent_p.Q199Q|BAG6_ENST00000375976.4_Silent_p.Q199Q	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	205	Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CAGCCGGTGGCTGCGGGGGCG	0.607																																																	0													93	124	113					6																	31615559		1510	2707	4217	SO:0001819	synonymous_variant	0			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.615G>A	6.37:g.31615559C>T			A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.Q199	ENST00000375964.6	37	c.597	CCDS47403.1	6																																																																																			BAG6	-	NULL	ENSG00000204463		0.607	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	HGNC	protein_coding		-	0	128	0	C	NM_080703		31615559	-1	tier1	-	no_errors	ENST00000404765	ensembl	human	known	74_37	silent	34.38	63	33	SNP	0.204	T	T	31615559	C	T	31615559	2	4	184	1	0	0	0	0	0	0	0	1	1323	796	28	3		3	BAT3	6	31615559	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	291096	31615559	139499508	176	45853											
PPARD	5467	genome.wustl.edu	37	chr6	35392450	35392450	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcagcctccgcaaacccttCagtgatatcattgagcctaa	11	9	7	14	2	2	2	2	2	0	0	3	2	3	2	4	0	3	2	4	0	3	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:35392450C>T	ENST00000311565.4	+	8	1321	c.972C>T	c.(970-972)ttC>ttT	p.F324F	PPARD_ENST00000360694.3_Silent_p.F324F|PPARD_ENST00000448077.2_Silent_p.F285F|PPARD_ENST00000418635.2_Silent_p.F226F|PPARD_ENST00000337400.2_Silent_p.F324F|PPARD_ENST00000540939.1_Silent_p.F221F|PPARD_ENST00000444397.1_Silent_p.F324F	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	324	Ligand-binding.				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)	GCAAACCCTTCAGTGATATCA	0.532																																																	0													69	65	66					6																	35392450		2203	4300	6503	SO:0001819	synonymous_variant	0			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.972C>T	6.37:g.35392450C>T			A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A	p.F324	ENST00000311565.4	37	c.972	CCDS4803.1	6																																																																																			PPARD	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000112033		0.532	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARD	HGNC	protein_coding	OTTHUMT00000040288.1	-	0	37	0	C	NM_006238		35392450	1	tier1	-	no_errors	ENST00000311565	ensembl	human	known	74_37	silent	30.00	14	6	SNP	1.000	T	T	35392450	C	T	35392450	2	4	184	1	0	0	0	0	0	0	0	1	12337	825	29	3		3	PPARD	6	35392450	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3776891	35392450	135722617	177	45854											
BAI3	577	genome.wustl.edu	37	chr6	70082325	70082325	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcacgatattcagaccttGactttgaggtaagtttatat	13	15	7	6	1	2	3	2	2	0	1	2	4	2	3	1	1	0	2	1	1	5	8			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:70082325G>C	ENST00000370598.1	+	30	5088	c.4267G>C	c.(4267-4269)Gac>Cac	p.D1423H	BAI3_ENST00000238918.8_Missense_Mutation_p.D629H|BAI3_ENST00000546190.1_Missense_Mutation_p.D387H	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1423					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)				TTCAGACCTTGACTTTGAGGT	0.239																																																	0													19	21	20					6																	70082325		2111	4155	6266	SO:0001583	missense	0			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.4267G>C	6.37:g.70082325G>C	ENSP00000359630:p.Asp1423His		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.D1423H	ENST00000370598.1	37	c.4267	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865576	0.51588	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.08102	3.13;3.13;3.13	5.97	5.97	0.96955	.	0.046113	0.85682	D	0.000000	T	0.06005	0.0156	L	0.49778	1.585	0.49051	D	0.999741	B;B	0.29508	0.006;0.246	B;B	0.26094	0.012;0.066	T	0.05784	-1.0864	10	0.87932	D	0	.	17.3555	0.87334	0.0:0.0:1.0:0.0	.	629;1423	B7Z356;O60242	.;BAI3_HUMAN	H	1423;629;387	ENSP00000359630:D1423H;ENSP00000238918:D629H;ENSP00000441821:D387H	ENSP00000238918:D629H	D	+	1	0	BAI3	70139046	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.873000	0.75541	2.836000	0.97738	0.655000	0.94253	GAC	BAI3	-	prints_GPCR_2_brain-spec_angio_inhib	ENSG00000135298		0.239	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	52	0	G			70082325	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	35.38	42	23	SNP	1.000	C	C	70082325	G	C	70082325	3	2	184	1	0	0	0	0	1	0	0	0	1301	1290	45	5	4377	5	BAI3	6	70082325	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	34689875	70082325	101032742	178	45855											
COL12A1	1303	genome.wustl.edu	37	chr6	75893760	75893760	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtcattggtgtgaggatGactttgtagccagtcactgg	8	12	14	7	0	2	2	2	2	0	0	2	3	2	3	1	3	1	2	1	3	1	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:75893760G>A	ENST00000322507.8	-	9	1407	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.V366V|COL12A1_ENST00000483888.2_Silent_p.V366V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	366	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTGTGAGGATGACTTTGTAGC	0.483																																																	0													81	79	80					6																	75893760		1984	4178	6162	SO:0001819	synonymous_variant	0			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.1098C>T	6.37:g.75893760G>A			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.V366	ENST00000322507.8	37	c.1098	CCDS43482.1	6																																																																																			COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.483	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	53	0	G	NM_004370		75893760	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	silent	17.54	47	10	SNP	0.000	A	A	75893760	G	A	75893760	2	1	184	1	0	0	0	0	0	0	0	1	3676	1277	45	3		3	COL12A1	6	75893760	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	5811435	75893760	95221307	179	45856											
SYNCRIP	10492	genome.wustl.edu	37	chr6	86324929	86324929	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacgatagttatggtaatCataaccataataatcataat	18	12	4	7	1	2	0	2	0	0	0	2	1	2	0	2	1	1	2	2	1	7	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:86324929C>G	ENST00000369622.3	-	11	1917	c.1417G>C	c.(1417-1419)Gat>Cat	p.D473H	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.M8I|SYNCRIP_ENST00000355238.6_Missense_Mutation_p.D473H	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	473	3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TTATGGTAATCATAACCATAA	0.433																																																	0													32	31	31					6																	86324929		2202	4290	6492	SO:0001583	missense	0			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.1417G>C	6.37:g.86324929C>G	ENSP00000358635:p.Asp473His		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.D473H	ENST00000369622.3	37	c.1417	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441099	0.43326	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.29397	1.59;1.57	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.998;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.83275	0.99;0.996;0.99;0.996;0.996;0.996;0.99	T	0.49254	-0.8959	10	0.46703	T	0.11	.	19.177	0.93605	0.0:1.0:0.0:0.0	.	473;438;375;321;438;473;473	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	H	473	ENSP00000347380:D473H;ENSP00000358635:D473H	ENSP00000347380:D473H	D	-	1	0	SYNCRIP	86381648	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.087000	0.71362	2.528000	0.85240	0.563000	0.77884	GAT	SYNCRIP	-	tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000135316		0.433	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	-	0	76	0	C	NM_006372		86324929	-1	tier1	-	no_errors	ENST00000369622	ensembl	human	known	74_37	missense	25.58	64	22	SNP	1.000	G	G	86324929	C	G	86324929	3	3	184	1	0	0	0	0	1	0	0	0	15491	826	29	5	504	5	SYNCRIP	6	86324929	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	10431169	86324929	84790138	180	45857											
CNR1	1268	genome.wustl.edu	37	chr6	88854985	88854985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcaaggccatctaggatCgacttcataacctcagtctt	10	12	7	12	1	5	0	2	0	3	0	6	2	5	1	2	2	2	1	2	2	3	4	rs371432780		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:88854985C>T	ENST00000537554.1	-	2	3571	c.9G>A	c.(7-9)tcG>tcA	p.S3S	CNR1_ENST00000549716.1_5'Flank|CNR1_ENST00000369499.2_Silent_p.S3S|CNR1_ENST00000549890.1_Silent_p.S3S|CNR1_ENST00000535130.1_Silent_p.S3S|CNR1_ENST00000362094.5_Silent_p.S3S|CNR1_ENST00000468898.1_Silent_p.S3S|CNR1_ENST00000369501.2_Silent_p.S3S|CNR1_ENST00000428600.2_Silent_p.S3S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	3					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)	CATCTAGGATCGACTTCATAA	0.478																																																	0								C	,,,,	1,4405	2.1+/-5.4	0,1,2202	132	112	119		9,9,9,9,9	-3.5	1	6		119	0,8600		0,0,4300	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	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	3/473,3/473,3/473,3/473,3/440	88854985	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.9G>A	6.37:g.88854985C>T			B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.S3	ENST00000537554.1	37	c.9	CCDS5015.1	6																																																																																			CNR1	-	pirsf_Canbinoid_rcpt_1	ENSG00000118432		0.478	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	HGNC	protein_coding	OTTHUMT00000354204.2	-	0	38	0	C			88854985	-1	tier1	-	no_errors	ENST00000369499	ensembl	human	known	74_37	silent	12.00	44	6	SNP	0.656	T	T	88854985	C	T	88854985	2	4	184	1	0	0	0	0	0	0	0	1	3638	871	31	1		1	CNR1	6	88854985	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2530056	88854985	82260082	181	45858											
SFRS13B	135295	genome.wustl.edu	37	chr6	89808431	89808431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggggatcttgctattgagtCagaatgtcttccatgtgatc	8	14	11	8	1	3	3	1	2	2	1	5	4	4	4	1	2	1	1	1	2	2	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:89808431C>G	ENST00000452027.2	-	5	845	c.652G>C	c.(652-654)Gac>Cac	p.D218H		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	218	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						GCTATTGAGTCAGAATGTCTT	0.398																																																	0													272	249	256					6																	89808431		1898	4125	6023	SO:0001583	missense	0			AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	21220	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 19", "SR splicing factor 12"		"splicing factor, arginine/serine-rich 13B"	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.652G>C	6.37:g.89808431C>G	ENSP00000414302:p.Asp218His		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D218H	ENST00000452027.2	37	c.652	CCDS47459.1	6	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228360	0.58777	.	.	ENSG00000154548	ENST00000452027	T	0.07444	3.19	5.22	5.22	0.72569	.	0.309538	0.29916	N	0.010880	T	0.06917	0.0176	L	0.40543	1.245	0.36242	D	0.853361	B	0.32693	0.38	B	0.40329	0.326	T	0.18903	-1.0322	10	0.49607	T	0.09	.	17.719	0.88345	0.0:1.0:0.0:0.0	.	218	Q8WXF0	SRS12_HUMAN	H	218	ENSP00000414302:D218H	ENSP00000414302:D218H	D	-	1	0	SRSF12	89865150	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.631000	0.37092	2.724000	0.93272	0.591000	0.81541	GAC	SRSF12	-	NULL	ENSG00000154548		0.398	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SRSF12	HGNC	protein_coding	OTTHUMT00000041474.2	-	0	77	0	C	NM_080743		89808431	-1	tier1	-	no_errors	ENST00000452027	ensembl	human	known	74_37	missense	28.75	57	23	SNP	1.000	G	G	89808431	C	G	89808431	3	3	184	1	0	0	0	0	1	0	0	0	14214	826	29	5	137	5	SFRS13B	6	89808431	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	953446	89808431	81306636	182	45859											
SIM1	6492	genome.wustl.edu	37	chr6	100838633	100838633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaacatttttccctctctCtgctggatatggtcacatgg	7	15	7	12	0	4	0	2	0	2	0	6	1	5	1	1	3	2	1	1	3	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:100838633C>G	ENST00000369208.3	-	12	2687	c.1905G>C	c.(1903-1905)caG>caC	p.Q635H	SIM1_ENST00000262901.4_Missense_Mutation_p.Q635H			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	635	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTCCCTCTCTCTGCTGGATAT	0.483																																																	0													165	163	164					6																	100838633		2203	4300	6503	SO:0001583	missense	0			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.1905G>C	6.37:g.100838633C>G	ENSP00000358210:p.Gln635His		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.Q635H	ENST00000369208.3	37	c.1905	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034526	0.35893	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03831	3.79;3.79	5.82	4.78	0.61160	Single-minded, C-terminal (2);	0.297199	0.39475	N	0.001345	T	0.01029	0.0034	N	0.04508	-0.205	0.41529	D	0.988446	B	0.06786	0.001	B	0.08055	0.003	T	0.52343	-0.8588	10	0.33141	T	0.24	.	9.5747	0.39450	0.0:0.7787:0.0:0.2213	.	635	P81133	SIM1_HUMAN	H	635	ENSP00000358210:Q635H;ENSP00000262901:Q635H	ENSP00000262901:Q635H	Q	-	3	2	SIM1	100945354	0.990000	0.36364	1.000000	0.80357	0.982000	0.71751	0.248000	0.18198	2.759000	0.94783	0.557000	0.71058	CAG	SIM1	-	pfam_SIM_C	ENSG00000112246		0.483	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	-	0	22	0	C	NM_005068		100838633	-1	tier1	-	no_errors	ENST00000262901	ensembl	human	known	74_37	missense	16.00	20	4	SNP	0.999	G	G	100838633	C	G	100838633	3	3	184	1	0	0	0	0	1	0	0	0	14368	912	32	5	399	5	SIM1	6	100838633	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	11030202	100838633	70276434	183	45860											
PRDM1	639	genome.wustl.edu	37	chr6	106553015	106553015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acccacgtacatcactcgctCccccattccatcctccacca	9	8	2	22	2	1	0	1	0	0	0	6	0	5	0	7	0	1	2	7	0	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:106553015C>G	ENST00000369096.4	+	5	1214	c.980C>G	c.(979-981)tCc>tGc	p.S327C	PRDM1_ENST00000369089.3_Missense_Mutation_p.S193C|PRDM1_ENST00000369091.2_Missense_Mutation_p.S291C	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	327					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)		ATCACTCGCTCCCCCATTCCA	0.602			"D, N, Mis, F, S"		DLBCL																																			Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	0													78	72	74					6																	106553015		2203	4300	6503	SO:0001583	missense	0				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.980C>G	6.37:g.106553015C>G	ENSP00000358092:p.Ser327Cys		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.S327C	ENST00000369096.4	37	c.980	CCDS5054.2	6	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068666	0.55539	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.47869	0.83;0.83;0.83	5.51	4.63	0.57726	.	0.163737	0.56097	D	0.000028	T	0.60599	0.2281	M	0.73598	2.24	0.54753	D	0.999988	D;D	0.89917	1.0;0.999	D;D	0.70227	0.968;0.949	T	0.68292	-0.5447	10	0.72032	D	0.01	-17.9269	15.9729	0.80034	0.0:0.8604:0.1396:0.0	.	193;327	Q86WM7;O75626	.;PRDM1_HUMAN	C	291;327;291;193	ENSP00000358087:S291C;ENSP00000358092:S327C;ENSP00000358085:S193C	ENSP00000358085:S193C	S	+	2	0	PRDM1	106659708	1.000000	0.71417	0.461000	0.27105	0.402000	0.30811	5.641000	0.67881	1.298000	0.44778	0.655000	0.94253	TCC	PRDM1	-	pirsf_Znf_PRDM1	ENSG00000057657		0.602	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3	-	0	19	0	C			106553015	1	tier1	-	no_errors	ENST00000369096	ensembl	human	known	74_37	missense	30.00	14	6	SNP	0.998	G	G	106553015	C	G	106553015	3	3	184	1	0	0	0	0	1	0	0	0	12492	855	30	5	1011	5	PRDM1	6	106553015	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	5714382	106553015	64562052	184	45861											
KIAA1919	91749	genome.wustl.edu	37	chr6	111588180	111588180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctataatagagacatctaGaagtagtctgacggagccca	14	10	9	8	1	3	3	0	1	3	2	3	5	3	4	1	1	1	1	1	1	6	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:111588180G>A	ENST00000368847.4	+	4	1768	c.1415G>A	c.(1414-1416)aGa>aAa	p.R472K		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	472					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GAGACATCTAGAAGTAGTCTG	0.393																																																	0													111	115	113					6																	111588180		2203	4300	6503	SO:0001583	missense	0			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1415G>A	6.37:g.111588180G>A	ENSP00000357840:p.Arg472Lys		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.R472K	ENST00000368847.4	37	c.1415	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	G	9.911	1.209488	0.22289	.	.	ENSG00000173214	ENST00000368847	T	0.43294	0.95	6.05	6.05	0.98169	.	0.553877	0.20743	N	0.086496	T	0.12092	0.0294	L	0.28274	0.84	0.09310	N	1	B	0.32245	0.361	B	0.19148	0.024	T	0.04635	-1.0937	10	0.20519	T	0.43	-12.6431	11.8318	0.52299	0.0:0.1303:0.7347:0.135	.	472	Q5TF39	NAGT1_HUMAN	K	472	ENSP00000357840:R472K	ENSP00000357840:R472K	R	+	2	0	KIAA1919	111694873	0.009000	0.17119	0.131000	0.22000	0.009000	0.06853	0.225000	0.17757	2.875000	0.98604	0.643000	0.83706	AGA	KIAA1919	-	NULL	ENSG00000173214		0.393	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1		0	48	0	G	NM_153369		111588180	1			no_errors	ENST00000368847	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.097	A	A	111588180	G	A	111588180	3	1	184	1	0	0	0	0	1	0	0	0	8289	942	33	3	1429	3	KIAA1919	6	111588180	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	5035165	111588180	59526887	185	45862											
PTPRK	5796	genome.wustl.edu	37	chr6	128388853	128388853	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggcattttggtatgtGacaggaacctggtagcattc	9	13	11	8	0	1	1	1	1	0	0	2	2	1	2	1	4	2	4	1	4	3	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:128388853G>T	ENST00000368215.3	-	12	1967	c.1968C>A	c.(1966-1968)gtC>gtA	p.V656V	RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Silent_p.V656V|PTPRK_ENST00000532331.1_Silent_p.V656V|PTPRK_ENST00000368226.4_Silent_p.V656V|PTPRK_ENST00000368213.5_Silent_p.V656V|PTPRK_ENST00000368227.3_Silent_p.V656V|PTPRK_ENST00000368210.3_Silent_p.V656V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	656	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTTGGTATGTGACAGGAACCT	0.527																																																	0													99	101	101					6																	128388853		2203	4300	6503	SO:0001819	synonymous_variant	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1968C>A	6.37:g.128388853G>T			B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V656	ENST00000368215.3	37	c.1968		6																																																																																			PTPRK	-	NULL	ENSG00000152894		0.527	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	-	0	34	0	G			128388853	-1	tier1	-	no_errors	ENST00000368227	ensembl	human	known	74_37	silent	18.75	39	9	SNP	0.960	T	T	128388853	G	T	128388853	2	4	184	1	0	0	0	0	0	0	0	1	12850	1277	45	3		3	PTPRK	6	128388853	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	16800673	128388853	42726214	186	45863											
CTAGE9	643854	genome.wustl.edu	37	chr6	132030636	132030636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaatgctgtatttgaaacatCgagtgcattaggatcttttt	12	16	8	5	1	1	1	0	1	1	0	2	3	1	2	0	1	3	3	0	1	4	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:132030636C>G	ENST00000314099.8	-	1	1570	c.1522G>C	c.(1522-1524)Gat>Cat	p.D508H	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	508						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TTTGAAACATCGAGTGCATTA	0.393																																																	0													17	18	18					6																	132030636		692	1591	2283	SO:0001583	missense	0				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.1522G>C	6.37:g.132030636C>G	ENSP00000395587:p.Asp508His			Missense_Mutation	SNP	NULL	p.D508H	ENST00000314099.8	37	c.1522	CCDS47475.1	6	.	.	.	.	.	.	.	.	.	.	-	8.739	0.918622	0.17982	.	.	ENSG00000236761	ENST00000314099	T	0.38560	1.13	.	.	.	.	.	.	.	.	T	0.43255	0.1239	M	0.84773	2.715	0.09310	N	1	P	0.49185	0.92	P	0.54401	0.751	T	0.24048	-1.0171	6	0.72032	D	0.01	.	.	.	.	.	508	A4FU28	CTGE9_HUMAN	H	508	ENSP00000395587:D508H	ENSP00000395587:D508H	D	-	1	0	CTAGE9	132072329	1.000000	0.71417	.	.	.	.	2.108000	0.41854	.	.	.	.	GAT	CTAGE9	-	NULL	ENSG00000236761		0.393	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	-	0	113	0	C	NM_001145659		132030636	-1	tier1	-	no_errors	ENST00000314099	ensembl	human	known	74_37	missense	21.82	129	36	SNP	0.000	G	G	132030636	C	G	132030636	3	3	184	1	0	0	0	0	1	0	0	0	4005	884	31	5	815	5	CTAGE9	6	132030636	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3641783	132030636	39084431	187	45864											
ENPP1	5167	genome.wustl.edu	37	chr6	132190551	132190551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctgaataaatatttggggGatgttaaaaatattaaagtt	17	15	8	1	0	1	1	0	1	1	0	1	2	1	2	0	2	0	2	0	2	10	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:132190551G>T	ENST00000360971.2	+	13	1347	c.1327G>T	c.(1327-1329)Gat>Tat	p.D443Y		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	443	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATATTTGGGGGATGTTAAAAA	0.328																																					Colon(104;336 1535 5856 11019 33782)												0													52	56	55					6																	132190551		2203	4299	6502	SO:0001583	missense	0			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.1327G>T	6.37:g.132190551G>T	ENSP00000354238:p.Asp443Tyr		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.D443Y	ENST00000360971.2	37	c.1327	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853887	0.51270	.	.	ENSG00000197594	ENST00000360971	T	0.73258	-0.73	5.14	3.33	0.38152	Alkaline-phosphatase-like, core domain (1);	0.152990	0.56097	D	0.000022	T	0.73900	0.3646	M	0.83223	2.63	0.27759	N	0.943903	D;D	0.76494	0.994;0.999	D;D	0.74023	0.942;0.982	T	0.66756	-0.5843	10	0.66056	D	0.02	-22.366	5.4276	0.16436	0.2378:0.1591:0.6031:0.0	.	443;73	P22413;Q7Z3P5	ENPP1_HUMAN;.	Y	443	ENSP00000354238:D443Y	ENSP00000354238:D443Y	D	+	1	0	ENPP1	132232244	0.381000	0.25140	0.949000	0.38748	0.995000	0.86356	0.798000	0.27014	1.295000	0.44724	0.655000	0.94253	GAT	ENPP1	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000197594		0.328	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	-	0	67	0	G			132190551	1	tier1	-	no_errors	ENST00000360971	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.334	T	T	132190551	G	T	132190551	3	4	184	1	0	0	0	0	1	0	0	0	5145	1174	41	3	1377	3	ENPP1	6	132190551	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	159915	132190551	38924516	188	45865											
BCLAF1	9774	genome.wustl.edu	37	chr6	136599709	136599709	+	Missense_Mutation	SNP	T	T	A	0	1	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	tgaacgacctcgtctaggacTcctagagtgccttctattcc	8	12	8	13	2	2	2	0	1	2	1	5	4	4	3	4	1	2	0	4	1	4	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:136599709T>A	ENST00000531224.1	-	4	562	c.310A>T	c.(310-312)Agt>Tgt	p.S104C	BCLAF1_ENST00000530767.1_Missense_Mutation_p.S104C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S102C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S102C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S104C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S102C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	104					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)		CGTCTAGGACTCCTAGAGTGC	0.468																																					Colon(142;1534 1789 5427 7063 28491)												0													150	148	149					6																	136599709		2203	4300	6503	SO:0001583	missense	0			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.310A>T	6.37:g.136599709T>A	ENSP00000435210:p.Ser104Cys		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.S104C	ENST00000531224.1	37	c.310	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784255	0.49997	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.19394	2.56;2.53;2.53;2.15;2.56;2.53;2.34	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.35098	0.0920	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.76071	0.987;0.987;0.987;0.987	T	0.18461	-1.0336	10	0.87932	D	0	-10.6396	15.3832	0.74676	0.0:0.0:0.0:1.0	.	102;102;104;104	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	C	104;102;104;104;102;102;104	ENSP00000435210:S104C;ENSP00000229446:S102C;ENSP00000435441:S104C;ENSP00000436501:S104C;ENSP00000434826:S102C;ENSP00000376159:S102C;ENSP00000431734:S104C	ENSP00000229446:S102C	S	-	1	0	BCLAF1	136641402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.811000	0.69187	2.102000	0.63906	0.455000	0.32223	AGT	BCLAF1	-	NULL	ENSG00000029363		0.468	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	-	0	73	0	T	NM_014739		136599709	-1	tier1	-	no_errors	ENST00000531224	ensembl	human	known	74_37	missense	6.25	120	8	SNP	1.000	A	A	136599709	T	A	136599709	3	1	184	1	0	0	0	0	1	0	0	0	1384	1551	54	5	2492	5	BCLAF1	6	136599709	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	4409158	136599709	34515358	189	45866											
SYNE1	23345	genome.wustl.edu	37	chr6	152730772	152730772	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgctggcattttctaaGactttagatacagctgattt	11	15	7	8	0	1	3	0	1	1	2	1	3	1	3	0	1	3	3	0	1	3	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:152730772G>T	ENST00000367255.5	-	43	6904	c.6303C>A	c.(6301-6303)gtC>gtA	p.V2101V	RNA5SP223_ENST00000365174.1_RNA|SYNE1_ENST00000341594.5_Silent_p.V2138V|SYNE1_ENST00000265368.4_Silent_p.V2101V|SYNE1_ENST00000423061.1_Silent_p.V2108V|SYNE1_ENST00000448038.1_Silent_p.V2108V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2101					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V2101V(2)|p.V2108V(1)		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)		CATTTTCTAAGACTTTAGATA	0.333										HNSCC(10;0.0054)																																							3	Substitution - coding silent(3)	lung(3)											97	94	95					6																	152730772		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6303C>A	6.37:g.152730772G>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V2101	ENST00000367255.5	37	c.6303	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.333	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	40	0	G	NM_182961		152730772	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.762	T	T	152730772	G	T	152730772	2	4	184	1	0	0	0	0	0	0	0	1	15492	929	33	3		3	SYNE1	6	152730772	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	16131063	152730772	18384295	190	45867											
TMEM181	57583	genome.wustl.edu	37	chr6	159006381	159006381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgactgttaaagtcgatgGtgtagctcaagatggaacca	13	10	11	7	1	1	2	1	1	0	1	2	4	1	3	1	2	2	3	1	2	5	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:159006381G>T	ENST00000367090.3	+	5	727	c.716G>T	c.(715-717)gGt>gTt	p.G239V		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	239					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		AAAGTCGATGGTGTAGCTCAA	0.453																																																	0													97	89	91					6																	159006381		1931	4129	6060	SO:0001583	missense	0			AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.716G>T	6.37:g.159006381G>T	ENSP00000356057:p.Gly239Val		Q5VTU1	Missense_Mutation	SNP	NULL	p.G239V	ENST00000367090.3	37	c.716	CCDS43520.1	6	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231521	0.79688	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75087	0.3802	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75020	0.985;0.974	T	0.76575	-0.2909	9	0.59425	D	0.04	.	17.1951	0.86891	0.0:0.0:1.0:0.0	.	239;150	Q9P2C4;Q8N4V6	TM181_HUMAN;.	V	146;239	.	ENSP00000323755:G146V	G	+	2	0	TMEM181	158926369	1.000000	0.71417	0.455000	0.27031	0.993000	0.82548	5.605000	0.67634	2.657000	0.90304	0.655000	0.94253	GGT	TMEM181	-	NULL	ENSG00000146433		0.453	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM181	HGNC	protein_coding	OTTHUMT00000042873.1	-	0	36	0	G	NM_020823		159006381	1	tier1	-	no_errors	ENST00000367090	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.983	T	T	159006381	G	T	159006381	3	4	184	1	0	0	0	0	1	0	0	0	16147	1261	44	3	734	3	TMEM181	6	159006381	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	6275609	159006381	12108686	191	45868											
WTAP	9589	genome.wustl.edu	37	chr6	160176222	160176222	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccagcaggactacagcttCtgaacctgtagaacagtcag	13	8	9	11	0	2	2	1	1	1	1	2	3	2	3	2	1	6	3	2	1	5	4	rs543667028		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr6:160176222C>G	ENST00000358372.4	+	8	2527	c.770C>G	c.(769-771)tCt>tGt	p.S257C	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	257					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ACTACAGCTTCTGAACCTGTA	0.562																																																	0													53	47	49					6																	160176222		2203	4300	6503	SO:0001583	missense	0			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.770C>G	6.37:g.160176222C>G	ENSP00000351141:p.Ser257Cys		Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	NULL	p.S257C	ENST00000358372.4	37	c.770	CCDS5266.1	6	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849077	0.71603	.	.	ENSG00000146457	ENST00000358372	T	0.28069	1.63	6.17	6.17	0.99709	.	0.054807	0.85682	D	0.000000	T	0.35711	0.0941	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.971	D;P	0.65443	0.935;0.789	T	0.13710	-1.0499	10	0.59425	D	0.04	-27.7688	20.8794	0.99867	0.0:1.0:0.0:0.0	.	257;257	A8K489;Q15007	.;FL2D_HUMAN	C	257	ENSP00000351141:S257C	ENSP00000351141:S257C	S	+	2	0	WTAP	160096212	0.997000	0.39634	0.503000	0.27626	0.966000	0.64601	3.583000	0.53928	2.941000	0.99782	0.655000	0.94253	TCT	WTAP	-	NULL	ENSG00000146457		0.562	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTAP	HGNC	protein_coding	OTTHUMT00000042905.1		0	20	0	C	NM_152857		160176222	1			no_errors	ENST00000358372	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.811	G	G	160176222	C	G	160176222	3	3	184	1	0	0	0	0	1	0	0	0	17458	913	32	5	800	5	WTAP	6	160176222	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1169841	160176222	10938845	192	45869											
PDGFA	5154	genome.wustl.edu	37	chr7	550466	550466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	cttgacgctgcggtggtggaCgcgggagggctggcacttga	5	8	19	9	4	0	2	0	2	0	0	0	4	0	4	0	6	1	3	0	6	0	2	rs201258799	byFrequency	TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:550466C>T	ENST00000354513.5	-	4	825	c.433G>A	c.(433-435)Gtc>Atc	p.V145I	PDGFA_ENST00000426681.2_5'Flank|PDGFA_ENST00000402802.3_Missense_Mutation_p.V145I	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	145					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CGGTGGTGGACGCGGGAGGGC	0.697													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		5082	0		0	False		,,,				2504	0																0								C	ILE/VAL,ILE/VAL	0,4400		0,0,2200	38	31	33		433,433	-1.5	0	7		33	11,8579		0,11,4284	no	missense,missense	PDGFA	NM_002607.5,NM_033023.4	29,29	0,11,6484	TT,TC,CC		0.1281,0.0,0.0847	benign,benign	145/212,145/197	550466	11,12979	2200	4295	6495	SO:0001583	missense	0				CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"PDGF A-chain", "platelet-derived growth factor alpha chain"	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.433G>A	7.37:g.550466C>T	ENSP00000346508:p.Val145Ile		B5BU73	Missense_Mutation	SNP	pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.V145I	ENST00000354513.5	37	c.433	CCDS34578.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.201|0.201	-1.044504|-1.044504	0.01997|0.01997	0.0|0.0	0.001281|0.001281	ENSG00000197461|ENSG00000197461	ENST00000400761|ENST00000402802;ENST00000354513	.|T;T	.|0.41758	.|0.99;0.99	4.59|4.59	-1.46|-1.46	0.08800|0.08800	.|Platelet-derived growth factor (PDGF) (3);	.|0.511465	.|0.19124	.|N	.|0.122091	T|T	0.21347|0.21347	0.0514|0.0514	N|N	0.16790|0.16790	0.44|0.44	0.20975|0.20975	N|N	0.999813|0.999813	.|B;B;B	.|0.13594	.|0.001;0.008;0.008	.|B;B;B	.|0.16722	.|0.001;0.004;0.016	T|T	0.20672|0.20672	-1.0268|-1.0268	6|10	0.54805|0.20519	T|T	0.06|0.43	-9.2627|-9.2627	8.5844|8.5844	0.33649|0.33649	0.0:0.3672:0.0:0.6328|0.0:0.3672:0.0:0.6328	.|.	.|159;145;145	.|Q32M96;P04085-2;P04085	.|.;.;PDGFA_HUMAN	H|I	151|145	.|ENSP00000383889:V145I;ENSP00000346508:V145I	ENSP00000383572:R151H|ENSP00000346508:V145I	R|V	-|-	2|1	0|0	PDGFA|PDGFA	516992|516992	0.989000|0.989000	0.36119|0.36119	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	1.507000|1.507000	0.35758|0.35758	-0.175000|-0.175000	0.10725|0.10725	-2.282000|-2.282000	0.00269|0.00269	CGT|GTC	PDGFA	-	pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	ENSG00000197461		0.697	PDGFA-002	KNOWN	basic|CCDS	protein_coding	PDGFA	HGNC	protein_coding	OTTHUMT00000322534.1		0	24	0	C			550466	-1			no_errors	ENST00000354513	ensembl	human	known	74_37	missense	26.83	30	11	SNP	0.704	T	T	550466	C	T	550466	3	4	184	1	0	0	0	0	1	0	0	0	11696	536	19	1	229	1	PDGFA	7	550466	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09		550466	158588197	193	45870											
SNX8	29886	genome.wustl.edu	37	chr7	2317768	2317768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatactccacatgcttcagGaagaggcccttcttctccgg	8	11	8	14	1	4	1	2	0	2	1	6	2	5	2	3	3	2	1	3	3	2	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:2317768G>A	ENST00000222990.3	-	2	309	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	89	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CATGCTTCAGGAAGAGGCCCT	0.597																																																	0													102	88	93					7																	2317768		2203	4300	6503	SO:0001819	synonymous_variant	0			AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"Sorting nexins"	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.267C>T	7.37:g.2317768G>A			A4D207|Q96I67	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.F89	ENST00000222990.3	37	c.267	CCDS5331.1	7																																																																																			SNX8	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000106266		0.597	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX8	HGNC	protein_coding	OTTHUMT00000322949.2		0	28	0	G			2317768	-1			no_errors	ENST00000222990	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	A	A	2317768	G	A	2317768	2	1	184	1	0	0	0	0	0	0	0	1	14953	1165	41	3		3	SNX8	7	2317768	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1767302	2317768	156820895	194	45871											
RADIL	55698	genome.wustl.edu	37	chr7	4874538	4874538	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagctctgcggcacagcccgGaggcgcgccaaggcccgggc	6	2	16	17	5	1	0	0	0	1	0	1	1	1	1	3	5	3	2	3	5	1	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:4874538G>T	ENST00000399583.3	-	4	1303	c.1116C>A	c.(1114-1116)ctC>ctA	p.L372L	RADIL_ENST00000536091.1_Silent_p.L372L|RADIL_ENST00000538469.1_Silent_p.L132L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	372	FHA.				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)		GCACAGCCCGGAGGCGCGCCA	0.771																																																	0													5	6	6					7																	4874538		1692	3788	5480	SO:0001819	synonymous_variant	0			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.1116C>A	7.37:g.4874538G>T			A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.P371T	ENST00000399583.3	37	c.1111	CCDS43544.1	7																																																																																			RADIL	-	NULL	ENSG00000157927		0.771	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	-	0	40	0	G	NM_018059		4874538	-1	tier1	-	no_errors	ENST00000445392	ensembl	human	known	74_37	missense	14.08	61	10	SNP	0.001	T	T	4874538	G	T	4874538	2	4	184	1	0	0	0	0	0	0	0	1	13042	1161	41	3		3	RADIL	7	4874538	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2556770	4874538	154264125	195	45872											
AGR3	155465	genome.wustl.edu	37	chr7	16901016	16901016	+	Missense_Mutation	SNP	A	A	C	1	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	tcacatacatacctacaaacAtgattctaggcacatattgc	15	11	4	11	0	2	1	1	1	1	0	2	1	2	1	1	1	5	1	1	1	6	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:16901016A>C	ENST00000310398.2	-	6	429	c.359T>G	c.(358-360)aTg>aGg	p.M120R	AGR3_ENST00000402239.3_Missense_Mutation_p.M120R	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	120						extracellular region (GO:0005576)	dystroglycan binding (GO:0002162)			central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		ACCTACAAACATGATTCTAGG	0.313																																																	0													124	122	123					7																	16901016		2203	4298	6501	SO:0001583	missense	0			AY069977	CCDS5365.1	7p21.1	2013-07-31	2013-07-31		ENSG00000173467	ENSG00000173467		"Protein disulfide isomerases"	24167	protein-coding gene	gene with protein product	"breast cancer membrane protein 11", "protein disulfide isomerase family A, member 18"	609482	"anterior gradient 3 homolog (Xenopus laevis)"			12592373, 12477722	Standard	NM_176813		Approved	HAG3, hAG-3, BCMP11, PDIA18	uc003sts.3	Q8TD06	OTTHUMG00000128411	ENST00000310398.2:c.359T>G	7.37:g.16901016A>C	ENSP00000308606:p.Met120Arg		A4D120	Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold	p.M120R	ENST00000310398.2	37	c.359	CCDS5365.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.22|18.22	3.574925|3.574925	0.65878|0.65878	.|.	.|.	ENSG00000173467|ENSG00000173467	ENST00000414935|ENST00000310398;ENST00000402239	.|T;T	.|0.41400	.|1.0;1.0	4.81|4.81	4.81|4.81	0.61882|0.61882	.|Thioredoxin-like fold (2);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.60143|0.60143	0.2246|0.2246	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.68943	.|0.961	T|T	0.64317|0.64317	-0.6436|-0.6436	5|10	.|0.72032	.|D	.|0.01	-4.183|-4.183	14.0507|14.0507	0.64734|0.64734	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|120	.|Q8TD06	.|AGR3_HUMAN	Q|R	98|120	.|ENSP00000308606:M120R;ENSP00000386016:M120R	.|ENSP00000308606:M120R	H|M	-|-	3|2	2|0	AGR3|AGR3	16867541|16867541	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.287000|5.287000	0.65645|0.65645	1.806000|1.806000	0.52798|0.52798	0.533000|0.533000	0.62120|0.62120	CAT|ATG	AGR3	-	superfamily_Thioredoxin-like_fold	ENSG00000173467		0.313	AGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGR3	HGNC	protein_coding	OTTHUMT00000250191.2	-	0	69	0	A	NM_176813		16901016	-1	tier1	-	no_errors	ENST00000310398	ensembl	human	known	74_37	missense	22.97	57	17	SNP	1.000	C	C	16901016	A	C	16901016	3	2	184	1	0	0	0	0	1	0	0	0	396	217	8	4	153	4	AGR3	7	16901016	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	12026478	16901016	142237647	196	45873											
OGDH	4967	genome.wustl.edu	37	chr7	44664045	44664045	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagcagctaggacatttCaacagattcggtgctattct	11	11	9	10	1	2	1	1	0	1	1	3	2	2	2	0	2	5	4	0	2	3	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:44664045C>T	ENST00000222673.5	+	2	145	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	OGDH_ENST00000447398.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000543843.1_5'Flank|OGDH_ENST00000439616.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000449767.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000443864.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000444676.1_Nonsense_Mutation_p.Q35*	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	35					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)	p.Q35K(1)		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)	TAGGACATTTCAACAGATTCG	0.468																																																	1	Substitution - Missense(1)	urinary_tract(1)											204	184	191					7																	44664045		2203	4300	6503	SO:0001587	stop_gained	0			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.103C>T	7.37:g.44664045C>T	ENSP00000222673:p.Gln35*		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Nonsense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.Q35*	ENST00000222673.5	37	c.103	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.569353	0.97671	.	.	ENSG00000105953	ENST00000439616;ENST00000443864;ENST00000449767;ENST00000447398;ENST00000419661;ENST00000444676;ENST00000222673	.	.	.	4.74	2.92	0.33932	.	0.345550	0.34460	N	0.003942	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-7.9215	8.9464	0.35762	0.0:0.7426:0.1708:0.0866	.	.	.	.	X	35	.	ENSP00000222673:Q35X	Q	+	1	0	OGDH	44630570	1.000000	0.71417	0.852000	0.33557	0.998000	0.95712	3.737000	0.55060	0.596000	0.29794	0.655000	0.94253	CAA	OGDH	-	pirsf_2oxoglutarate_DH_E1	ENSG00000105953		0.468	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	-	0	77	0	C			44664045	1	tier1	-	no_errors	ENST00000222673	ensembl	human	known	74_37	nonsense	26.47	75	27	SNP	1.000	T	T	44664045	C	T	44664045	4	4	184	1	0	0	0	0	0	1	0	0	10878	827	29	3	105	3	OGDH	7	44664045	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	27763029	44664045	114474618	197	45874											
TNS3	64759	genome.wustl.edu	37	chr7	47323459	47323459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttcaagtaccacacattGcaggctggaagacaccaagg	14	6	11	10	0	1	1	1	0	0	1	1	3	1	2	2	3	2	4	2	3	4	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:47323459G>A	ENST00000398879.1	-	28	4299	c.3933C>T	c.(3931-3933)tgC>tgT	p.C1311C	TNS3_ENST00000355730.3_Silent_p.C1071C|TNS3_ENST00000311160.9_Silent_p.C1311C			Q68CZ2	TENS3_HUMAN	tensin 3	1311					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						ACCACACATTGCAGGCTGGAA	0.552																																																	0													73	76	75					7																	47323459		2100	4240	6340	SO:0001819	synonymous_variant	0			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.3933C>T	7.37:g.47323459G>A			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.C1311	ENST00000398879.1	37	c.3933	CCDS5506.2	7																																																																																			TNS3	-	pfam_PTB,smart_PTB/PI_dom	ENSG00000136205		0.552	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	-	0	29	0	G	NM_022748		47323459	-1	tier1	-	no_errors	ENST00000311160	ensembl	human	known	74_37	silent	11.11	32	4	SNP	1.000	A	A	47323459	G	A	47323459	2	1	184	1	0	0	0	0	0	0	0	1	16391	1311	46	3		3	TNS3	7	47323459	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2659414	47323459	111815204	198	45875											
SEPT14	346288	genome.wustl.edu	37	chr7	55886880	55886880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttttccaactttcacttCatctgtactccctaccacag	8	15	2	16	0	3	0	2	0	1	0	5	0	5	0	4	0	3	1	4	0	3	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:55886880C>T	ENST00000388975.3	-	7	873	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	253	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTTTCACTTCATCTGTACTC	0.428																																																	0													62	51	55					7																	55886880		2203	4300	6503	SO:0001583	missense	0			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.757G>A	7.37:g.55886880C>T	ENSP00000373627:p.Glu253Lys		A6NCC2|B4DXD6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.E253K	ENST00000388975.3	37	c.757	CCDS5519.2	7	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418828	0.42918	.	.	ENSG00000154997	ENST00000388975	T	0.32272	1.46	3.85	3.85	0.44370	.	0.000000	0.56097	D	0.000027	T	0.43211	0.1237	L	0.43554	1.36	0.35444	D	0.79508	P	0.51147	0.942	P	0.60886	0.88	T	0.55698	-0.8100	10	0.56958	D	0.05	.	13.6577	0.62348	0.0:1.0:0.0:0.0	.	253	Q6ZU15	SEP14_HUMAN	K	253	ENSP00000373627:E253K	ENSP00000373627:E253K	E	-	1	0	SEPT14	55854374	1.000000	0.71417	0.258000	0.24420	0.057000	0.15508	3.401000	0.52601	2.130000	0.65690	0.563000	0.77884	GAA	SEPT14	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000154997		0.428	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2	-	0	55	0	C	NM_207366		55886880	-1	tier1	-	no_errors	ENST00000388975	ensembl	human	known	74_37	missense	41.67	42	30	SNP	0.943	T	T	55886880	C	T	55886880	3	4	184	1	0	0	0	0	1	0	0	0	14108	835	29	3	557	3	SEPT14	7	55886880	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	8563421	55886880	103251783	199	45876											
ZNF679	168417	genome.wustl.edu	37	chr7	63726538	63726538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	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	aaattccaatagacataagaCaagacatactggaaagaaac	22	6	6	7	0	0	4	0	0	0	4	1	5	1	5	1	1	2	0	1	1	8	4	rs375602152		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:63726538C>A	ENST00000421025.1	+	5	796	c.527C>A	c.(526-528)aCa>aAa	p.T176K	ZNF679_ENST00000255746.4_Missense_Mutation_p.T176K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	176					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						AGACATAAGACAAGACATACT	0.313																																																	0													77	65	69					7																	63726538		692	1591	2283	SO:0001583	missense	0			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.527C>A	7.37:g.63726538C>A	ENSP00000416809:p.Thr176Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T176K	ENST00000421025.1	37	c.527	CCDS47592.1	7	.	.	.	.	.	.	.	.	.	.	C	0.194	-1.050424	0.01981	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.26810	1.71;1.71	1.12	-2.23	0.06930	Zinc finger, C2H2 (1);	.	.	.	.	T	0.09379	0.0231	N	0.11651	0.15	0.22280	N	0.999235	P	0.50066	0.931	B	0.44224	0.444	T	0.09885	-1.0654	9	0.02654	T	1	.	2.8797	0.05644	0.2511:0.3017:0.4472:0.0	.	176	Q8IYX0	ZN679_HUMAN	K	176	ENSP00000416809:T176K;ENSP00000255746:T176K	ENSP00000255746:T176K	T	+	2	0	ZNF679	63363973	0.000000	0.05858	0.025000	0.17156	0.314000	0.28054	-1.266000	0.02842	-0.566000	0.06054	0.194000	0.17425	ACA	ZNF679	-	pfscan_Znf_C2H2	ENSG00000197123		0.313	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	HGNC	protein_coding	OTTHUMT00000344317.2	-	0	90	0	C	NM_153363		63726538	1	tier1	-	no_errors	ENST00000255746	ensembl	human	known	74_37	missense	26.61	91	33	SNP	0.999	A	A	63726538	C	A	63726538	3	1	184	1	0	0	0	0	1	0	0	0	18134	478	17	3	541	3	ZNF679	7	63726538	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	7839658	63726538	95412125	200	45877											
GTF2IRD1	9569	genome.wustl.edu	37	chr7	73969808	73969808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtggacgagagcctgaaGagacagggctttcaaggtaa	12	7	15	7	1	1	3	1	1	0	2	1	6	1	4	1	4	1	2	1	4	3	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:73969808G>C	ENST00000265755.3	+	19	2445	c.2052G>C	c.(2050-2052)aaG>aaC	p.K684N	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.K669N|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.K669N|GTF2IRD1_ENST00000489094.1_Intron|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.K701N	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	684					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						AGAGCCTGAAGAGACAGGGCT	0.607																																																	0													72	64	67					7																	73969808		2203	4300	6503	SO:0001583	missense	0			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.2052G>C	7.37:g.73969808G>C	ENSP00000265755:p.Lys684Asn		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.K684N	ENST00000265755.3	37	c.2052	CCDS5571.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.05|13.05	2.122543|2.122543	0.37436|0.37436	.|.	.|.	ENSG00000006704|ENSG00000006704	ENST00000470715|ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	.|T;T;T;T	.|0.35048	.|1.33;1.35;1.35;1.34	4.0|4.0	2.11|2.11	0.27256|0.27256	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.29256|0.29256	0.0728|0.0728	L|L	0.50333|0.50333	1.59|1.59	0.46396|0.46396	D|D	0.999026|0.999026	.|B;B;B;B	.|0.32526	.|0.037;0.134;0.258;0.374	.|B;B;B;B	.|0.31946	.|0.017;0.138;0.101;0.134	T|T	0.08848|0.08848	-1.0702|-1.0702	5|10	.|0.46703	.|T	.|0.11	-5.748|-5.748	8.2945|8.2945	0.31978|0.31978	0.2047:0.0:0.7953:0.0|0.2047:0.0:0.7953:0.0	.|.	.|701;669;684;669	.|Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.|.;.;GT2D1_HUMAN;.	Q|N	47|684;701;669;669	.|ENSP00000265755:K684N;ENSP00000397566:K701N;ENSP00000408477:K669N;ENSP00000418383:K669N	.|ENSP00000265755:K684N	E|K	+|+	1|3	0|2	GTF2IRD1|GTF2IRD1	73607744|73607744	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	3.728000|3.728000	0.54991|0.54991	0.809000|0.809000	0.34255|0.34255	-0.136000|-0.136000	0.14681|0.14681	GAG|AAG	GTF2IRD1	-	pirsf_TF_II-I	ENSG00000006704		0.607	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2	-	0	40	0	G	NM_016328		73969808	1	tier1	-	no_errors	ENST00000265755	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	C	C	73969808	G	C	73969808	3	2	184	1	0	0	0	0	1	0	0	0	6895	933	33	5	2122	5	GTF2IRD1	7	73969808	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	10243270	73969808	85168855	201	45878											
SEMA3A	10371	genome.wustl.edu	37	chr7	83634746	83634746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgataatttacatccgttttGatcactattgggcgattgtt	9	18	8	6	2	1	2	1	2	0	0	2	3	2	2	1	1	1	2	1	1	3	9			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:83634746G>C	ENST00000265362.4	-	11	1583	c.1269C>G	c.(1267-1269)atC>atG	p.I423M	SEMA3A_ENST00000436949.1_Missense_Mutation_p.I423M	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	423	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						CATCCGTTTTGATCACTATTG	0.378																																																	0													188	169	176					7																	83634746		2203	4300	6503	SO:0001583	missense	0			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.1269C>G	7.37:g.83634746G>C	ENSP00000265362:p.Ile423Met			Missense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.I423M	ENST00000265362.4	37	c.1269	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699582	0.30142	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.11063	2.81;2.81	4.96	1.08	0.20341	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.151216	0.64402	D	0.000020	T	0.10380	0.0254	L	0.55743	1.74	0.48632	D	0.999687	B	0.16166	0.016	B	0.24848	0.056	T	0.09509	-1.0671	10	0.62326	D	0.03	.	5.2868	0.15706	0.3592:0.0:0.5124:0.1284	.	423	Q14563	SEM3A_HUMAN	M	423	ENSP00000265362:I423M;ENSP00000415260:I423M	ENSP00000265362:I423M	I	-	3	3	SEMA3A	83472682	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	0.566000	0.23593	0.229000	0.21039	-0.482000	0.04802	ATC	SEMA3A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000075213		0.378	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	-	0	64	0	G	NM_006080		83634746	-1	tier1	-	no_errors	ENST00000265362	ensembl	human	known	74_37	missense	15.56	76	14	SNP	1.000	C	C	83634746	G	C	83634746	3	2	184	1	0	0	0	0	1	0	0	0	14069	1280	45	5	1074	5	SEMA3A	7	83634746	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	9664938	83634746	75503917	202	45879											
AKAP9	10142	genome.wustl.edu	37	chr7	91630582	91630582	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatagtgcaaatgaaacaaGaattaataagacaacacatg	22	7	7	5	0	0	4	0	1	0	3	0	4	0	4	0	0	3	1	0	0	8	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:91630582G>T	ENST00000359028.2	+	9	1612	c.1387G>T	c.(1387-1389)Gaa>Taa	p.E463*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E463*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E451*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	463	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)			AATGAAACAAGAATTAATAAG	0.378			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													104	111	109					7																	91630582		2203	4300	6503	SO:0001587	stop_gained	0			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.1387G>T	7.37:g.91630582G>T	ENSP00000351922:p.Glu463*		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.E463*	ENST00000359028.2	37	c.1387		7	.	.	.	.	.	.	.	.	.	.	G	38	6.909997	0.97928	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	5.56	5.56	0.83823	.	0.000000	0.42548	D	0.000682	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	.	.	.	X	451;463;463;463;463	.	ENSP00000348573:E451X	E	+	1	0	AKAP9	91468518	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.790000	0.85794	2.771000	0.95319	0.650000	0.86243	GAA	AKAP9	-	NULL	ENSG00000127914		0.378	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0	64	0	G	NM_005751		91630582	1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	nonsense	26.09	34	12	SNP	1.000	T	T	91630582	G	T	91630582	4	4	184	1	0	0	0	0	0	1	0	0	459	943	33	3	1381	3	AKAP9	7	91630582	Nonsense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	7995836	91630582	67508081	203	45880											
AKAP9	10142	genome.wustl.edu	37	chr7	91631497	91631497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttaaaacagaattgttaGaaaaacagatgaaggaaaaa	24	7	7	3	0	0	4	0	1	0	3	0	5	0	5	0	1	3	1	0	1	10	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:91631497G>C	ENST00000359028.2	+	9	2527	c.2302G>C	c.(2302-2304)Gaa>Caa	p.E768Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E768Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E756Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	768	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)			AGAATTGTTAGAAAAACAGAT	0.299			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													43	49	47					7																	91631497		2190	4290	6480	SO:0001583	missense	0			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.2302G>C	7.37:g.91631497G>C	ENSP00000351922:p.Glu768Gln		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.E768Q	ENST00000359028.2	37	c.2302		7	.	.	.	.	.	.	.	.	.	.	G	9.220	1.033167	0.19590	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.48522	0.81;0.81;0.81	5.73	4.85	0.62838	.	0.000000	0.42172	D	0.000755	T	0.53867	0.1823	L	0.55103	1.725	0.36903	D	0.89052	P;P;B;P	0.45715	0.787;0.865;0.361;0.545	B;P;B;B	0.49665	0.413;0.618;0.104;0.209	T	0.59762	-0.7393	10	0.32370	T	0.25	.	16.2214	0.82262	0.0:0.2952:0.7048:0.0	.	768;756;756;768	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	Q	756;768;768;768;768	ENSP00000348573:E756Q;ENSP00000351922:E768Q;ENSP00000350813:E768Q	ENSP00000348573:E756Q	E	+	1	0	AKAP9	91469433	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	4.813000	0.62620	1.565000	0.49641	0.650000	0.86243	GAA	AKAP9	-	NULL	ENSG00000127914		0.299	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0	185	0	G	NM_005751		91631497	1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	27.08	174	65	SNP	1.000	C	C	91631497	G	C	91631497	3	2	184	1	0	0	0	0	1	0	0	0	459	943	33	5	2296	5	AKAP9	7	91631497	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	915	91631497	67507166	204	45881											
GATAD1	57798	genome.wustl.edu	37	chr7	92080020	92080020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtattttcatagcccatCaaagctcctgagtcagtttc	9	16	6	10	0	3	1	3	1	0	0	5	1	4	1	2	0	2	3	2	0	3	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:92080020C>G	ENST00000287957.3	+	3	658	c.381C>G	c.(379-381)atC>atG	p.I127M		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	127						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I127M(1)|p.?(1)		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)			CATAGCCCATCAAAGCTCCTG	0.398																																																	2	Substitution - Missense(1)|Unknown(1)	lung(1)|kidney(1)											99	95	96					7																	92080020		2203	4300	6503	SO:0001583	missense	0				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.381C>G	7.37:g.92080020C>G	ENSP00000287957:p.Ile127Met		B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Missense_Mutation	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.I127M	ENST00000287957.3	37	c.381	CCDS5625.1	7	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259235	0.59321	.	.	ENSG00000157259	ENST00000287957	D	0.88431	-2.38	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.90494	0.7022	L	0.41710	1.295	0.58432	D	0.999999	D	0.64830	0.994	P	0.56916	0.809	D	0.89300	0.3625	10	0.40728	T	0.16	-26.3204	18.4846	0.90824	0.0:1.0:0.0:0.0	.	127	Q8WUU5	GATD1_HUMAN	M	127	ENSP00000287957:I127M	ENSP00000287957:I127M	I	+	3	3	GATAD1	91917956	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.905000	0.48727	2.878000	0.98634	0.650000	0.86243	ATC	GATAD1	-	NULL	ENSG00000157259		0.398	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATAD1	HGNC	protein_coding	OTTHUMT00000253929.2	-	0	23	0	C	NM_021167		92080020	1	tier1	-	no_errors	ENST00000287957	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G	G	92080020	C	G	92080020	3	3	184	1	0	0	0	0	1	0	0	0	6284	816	29	5	391	5	GATAD1	7	92080020	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	448523	92080020	67058643	205	45882											
DYNC1I1	1780	genome.wustl.edu	37	chr7	95705494	95705494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcttggacctctggaacctCaacaatgacaccgaggtgag	11	7	11	12	2	2	2	1	2	1	0	2	5	2	4	3	3	2	1	3	3	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:95705494C>T	ENST00000324972.6	+	15	1879	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	DYNC1I1_ENST00000437599.1_Silent_p.L542L|DYNC1I1_ENST00000447467.2_Silent_p.L545L|DYNC1I1_ENST00000359388.4_Silent_p.L525L|DYNC1I1_ENST00000457059.1_Silent_p.L545L|DYNC1I1_ENST00000537881.1_Silent_p.L525L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	562					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)			TCTGGAACCTCAACAATGACA	0.627											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													62	58	59					7																	95705494		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1686C>T	7.37:g.95705494C>T		1315	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L562	ENST00000324972.6	37	c.1686	CCDS5644.1	7																																																																																			DYNC1I1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000158560		0.627	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	-	0	35	0	C	NM_004411		95705494	1	tier1	-	no_errors	ENST00000324972	ensembl	human	known	74_37	silent	14.71	29	5	SNP	1.000	T	T	95705494	C	T	95705494	2	4	184	1	0	0	0	0	0	0	0	1	4856	813	29	3		3	DYNC1I1	7	95705494	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3625474	95705494	63433169	206	45883											
TECPR1	25851	genome.wustl.edu	37	chr7	97862900	97862900	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctcggggaagccagcggccGagtggctgggcactttcttg	5	9	16	11	3	2	0	0	0	2	0	3	2	2	1	2	5	2	2	2	5	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:97862900G>C	ENST00000447648.2	-	11	1804	c.1505C>G	c.(1504-1506)tCg>tGg	p.S502W	TECPR1_ENST00000542604.1_Missense_Mutation_p.S432W|TECPR1_ENST00000379795.3_Missense_Mutation_p.S502W			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	502					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						GCCAGCGGCCGAGTGGCTGGG	0.692																																																	0																																										SO:0001583	missense	0				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.1505C>G	7.37:g.97862900G>C	ENSP00000404923:p.Ser502Trp		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.S502W	ENST00000447648.2	37	c.1505	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125325	0.37533	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.34275	1.37;1.37;1.38	4.7	2.84	0.33178	.	1.356910	0.04568	N	0.392757	T	0.46308	0.1386	L	0.38175	1.15	0.09310	N	0.999999	D;D	0.62365	0.991;0.963	P;P	0.57283	0.817;0.543	T	0.29610	-1.0006	10	0.72032	D	0.01	0.0049	8.4783	0.33027	0.0817:0.0:0.766:0.1523	.	432;502	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	W	502;502;432	ENSP00000404923:S502W;ENSP00000369121:S502W;ENSP00000441121:S432W	ENSP00000369121:S502W	S	-	2	0	TECPR1	97700836	0.969000	0.33509	0.000000	0.03702	0.357000	0.29423	4.444000	0.60001	0.392000	0.25172	-0.448000	0.05591	TCG	TECPR1	-	NULL	ENSG00000205356		0.692	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	-	0	17	0	G	NM_015395		97862900	-1	tier1	-	no_errors	ENST00000379795	ensembl	human	known	74_37	missense	33.33	14	7	SNP	0.028	C	C	97862900	G	C	97862900	3	2	184	1	0	0	0	0	1	0	0	0	15790	1059	37	5	2056	5	TECPR1	7	97862900	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2157406	97862900	61275763	207	45884											
MUC17	140453	genome.wustl.edu	37	chr7	100685190	100685190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttctccaaccaattcatCtcctacaactgctgaagtta	11	14	3	13	0	4	1	1	1	3	0	6	1	4	1	3	0	4	2	3	0	6	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:100685190C>G	ENST00000306151.4	+	3	10557	c.10493C>G	c.(10492-10494)tCt>tGt	p.S3498C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3498	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)					ACCAATTCATCTCCTACAACT	0.517																																																	0													218	231	227					7																	100685190		2203	4300	6503	SO:0001583	missense	0			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.10493C>G	7.37:g.100685190C>G	ENSP00000302716:p.Ser3498Cys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S3498C	ENST00000306151.4	37	c.10493	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	6.795	0.515664	0.12944	.	.	ENSG00000169876	ENST00000306151	T	0.03124	4.04	1.41	1.41	0.22369	.	.	.	.	.	T	0.06872	0.0175	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	D	0.80764	0.994	T	0.37079	-0.9721	9	0.66056	D	0.02	.	3.8154	0.08814	0.0:0.7492:0.0:0.2508	.	3498	Q685J3	MUC17_HUMAN	C	3498	ENSP00000302716:S3498C	ENSP00000302716:S3498C	S	+	2	0	MUC17	100471910	0.000000	0.05858	0.014000	0.15608	0.085000	0.17905	-0.518000	0.06267	0.750000	0.32877	0.186000	0.17326	TCT	MUC17	-	NULL	ENSG00000169876		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	62	0	C	NM_001040105		100685190	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	32.61	31	15	SNP	0.013	G	G	100685190	C	G	100685190	3	3	184	1	0	0	0	0	1	0	0	0	10012	913	32	5	10503	5	MUC17	7	100685190	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2822290	100685190	58453473	208	45885											
MUC17	140453	genome.wustl.edu	37	chr7	100685292	100685292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccacaccggtggccagttCtgaggctagcaccctttcaa	9	8	9	15	1	2	1	1	1	1	0	2	1	2	1	4	3	1	3	4	3	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr7:100685292C>G	ENST00000306151.4	+	3	10659	c.10595C>G	c.(10594-10596)tCt>tGt	p.S3532C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3532	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)					GTGGCCAGTTCTGAGGCTAGC	0.488																																																	0													247	261	256					7																	100685292		2203	4300	6503	SO:0001583	missense	0			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.10595C>G	7.37:g.100685292C>G	ENSP00000302716:p.Ser3532Cys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S3532C	ENST00000306151.4	37	c.10595	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	5.467	0.271227	0.10349	.	.	ENSG00000169876	ENST00000306151	T	0.03124	4.04	1.13	1.13	0.20643	.	.	.	.	.	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.42015	-0.9476	9	0.59425	D	0.04	.	7.7466	0.28873	0.0:1.0:0.0:0.0	.	3532	Q685J3	MUC17_HUMAN	C	3532	ENSP00000302716:S3532C	ENSP00000302716:S3532C	S	+	2	0	MUC17	100472012	0.001000	0.12720	0.011000	0.14972	0.010000	0.07245	0.357000	0.20199	0.567000	0.29293	0.186000	0.17326	TCT	MUC17	-	NULL	ENSG00000169876		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	64	0	C	NM_001040105		100685292	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	21.31	48	13	SNP	0.014	G	G	100685292	C	G	100685292	3	3	184	1	0	0	0	0	1	0	0	0	10012	913	32	5	10605	5	MUC17	7	100685292	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	102	100685292	58453371	209	45886											
AMAC1L2	83650	genome.wustl.edu	37	chr8	11189620	11189620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgagaggacagggaaGgtggaggagtgagatagaac	14	5	19	3	0	0	3	0	2	0	3	0	9	0	7	0	5	2	1	0	5	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:11189620G>T	ENST00000382435.4	+	1	1224	c.1005G>T	c.(1003-1005)aaG>aaT	p.K335N		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	335						integral component of membrane (GO:0016021)											GGACAGGGAAGGTGGAGGAGT	0.483																																																	0													52	55	54					8																	11189620		2203	4300	6503	SO:0001583	missense	0			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.1005G>T	8.37:g.11189620G>T	ENSP00000371872:p.Lys335Asn		A2RRL6	Missense_Mutation	SNP	pfam_DMT	p.K335N	ENST00000382435.4	37	c.1005	CCDS5980.1	8	.	.	.	.	.	.	.	.	.	.	g	5.259	0.233309	0.09969	.	.	ENSG00000177710	ENST00000382435	T	0.27402	1.67	.	.	.	.	0.720518	0.11917	N	0.517063	T	0.17662	0.0424	N	0.22421	0.69	0.22424	N	0.999112	B	0.23735	0.09	B	0.18561	0.022	T	0.20174	-1.0283	8	0.62326	D	0.03	0.0	.	.	.	.	335	Q96KT7	S35G5_HUMAN	N	335	ENSP00000371872:K335N	ENSP00000371872:K335N	K	+	3	2	SLC35G5	11227030	0.477000	0.25909	0.268000	0.24571	0.269000	0.26545	0.550000	0.23345	0.064000	0.16427	0.064000	0.15345	AAG	SLC35G5	-	NULL	ENSG00000177710		0.483	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	HGNC	protein_coding	OTTHUMT00000207313.2	-	0	89	0	G	NM_054028		11189620	1	tier1	-	no_errors	ENST00000382435	ensembl	human	known	74_37	missense	11.36	78	10	SNP	0.994	T	T	11189620	G	T	11189620	3	4	184	1	0	0	0	0	1	0	0	0	560	991	35	3	1007	3	AMAC1L2	8	11189620	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09		11189620	135174402	210	45887											
LPL	4023	genome.wustl.edu	37	chr8	19813423	19813423	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgactctctgttgaatgaaGaaaatccaagtaaggcctac	14	10	8	9	1	1	3	0	2	1	1	4	4	2	3	2	1	1	2	2	1	7	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:19813423G>T	ENST00000311322.8	+	6	1317	c.847G>T	c.(847-849)Gaa>Taa	p.E283*		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	283					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)	GTTGAATGAAGAAAATCCAAG	0.468																																																	0													97	97	97					8																	19813423		2203	4300	6503	SO:0001587	stop_gained	0				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.847G>T	8.37:g.19813423G>T	ENSP00000309757:p.Glu283*		B2R5T9|Q16282|Q16283|Q96FC4	Nonsense_Mutation	SNP	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase	p.E283*	ENST00000311322.8	37	c.847	CCDS6012.1	8	.	.	.	.	.	.	.	.	.	.	G	42	9.723512	0.99248	.	.	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	.	.	.	6.07	6.07	0.98685	.	0.137404	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.6753	18.2083	0.89861	0.0:0.0:1.0:0.0	.	.	.	.	X	283;207;269	.	.	E	+	1	0	LPL	19857703	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.326000	0.72905	2.902000	0.99343	0.650000	0.86243	GAA	LPL	-	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,tigrfam_Lipo_Lipase	ENSG00000175445		0.468	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	HGNC	protein_coding	OTTHUMT00000089113.3		0	42	0	G			19813423	1			no_errors	ENST00000311322	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	T	T	19813423	G	T	19813423	4	4	184	1	0	0	0	0	0	1	0	0	8956	943	33	3	869	3	LPL	8	19813423	Nonsense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	8623803	19813423	126550599	211	45888											
PDLIM2	64236	genome.wustl.edu	37	chr8	22451274	22451274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgcatccaggagggcCggtaccgccaccccggctgc	5	5	14	17	4	0	0	0	0	0	0	1	1	1	1	6	4	3	3	6	4	1	1	rs147368012		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:22451274C>T	ENST00000397760.4	+	10	1310	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	PDLIM2_ENST00000265810.4_Missense_Mutation_p.R304W|PDLIM2_ENST00000409141.1_Silent_p.A264A|AC037459.4_ENST00000430850.2_Missense_Mutation_p.R98W|PDLIM2_ENST00000409417.1_Missense_Mutation_p.R304W|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000397761.2_Missense_Mutation_p.R304W|PDLIM2_ENST00000339162.7_Silent_p.A264A|PDLIM2_ENST00000308354.7_Missense_Mutation_p.R554W			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	304	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CCAGGAGGGCCGGTACCGCCA	0.647																																																	0								C	TRP/ARG,TRP/ARG,	1,4403		0,1,2201	27	23	24		1660,910,792	2.8	1	8	dbSNP_134	24	1,8595		0,1,4297	no	missense,missense,coding-synonymous	PDLIM2	NM_021630.5,NM_176871.3,NM_198042.3	101,101,	0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,	554/603,304/367,264/279	22451274	2,12998	2202	4298	6500	SO:0001583	missense	0			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.910C>T	8.37:g.22451274C>T	ENSP00000380867:p.Arg304Trp		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.R554W	ENST00000397760.4	37	c.1660		8	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914109	0.72983	2.27E-4	1.16E-4	ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000248235	ENST00000308354;ENST00000397760;ENST00000397761;ENST00000265810;ENST00000409417;ENST00000430850	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	4.72	2.81	0.32909	Zinc finger, LIM-type (5);	0.154474	0.43579	D	0.000553	D	0.92909	0.7744	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.986	D	0.92361	0.5897	9	0.72032	D	0.01	-26.562	12.1967	0.54300	0.3143:0.6857:0.0:0.0	.	304;304	Q96JY6-3;Q96JY6	.;PDLI2_HUMAN	W	554;304;304;304;304;98	ENSP00000312634:R554W;ENSP00000380867:R304W;ENSP00000380868:R304W;ENSP00000265810:R304W;ENSP00000387084:R304W;ENSP00000428700:R98W	ENSP00000428700:R98W	R	+	1	2	AC037459.4;PDLIM2	22507219	0.606000	0.26949	0.984000	0.44739	0.987000	0.75469	1.055000	0.30467	0.348000	0.23949	0.491000	0.48974	CGG	PDLIM2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000120913		0.647	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	HGNC	protein_coding	OTTHUMT00000334167.1	-	0	52	0	C			22451274	1	tier1	rs147368012	no_errors	ENST00000308354	ensembl	human	known	74_37	missense	18.60	35	8	SNP	0.928	T	T	22451274	C	T	22451274	3	4	184	1	0	0	0	0	1	0	0	0	11719	643	23	1	944	1	PDLIM2	8	22451274	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2637851	22451274	123912748	212	45889											
PTK2B	2185	genome.wustl.edu	37	chr8	27290985	27290985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacctcatccctagcagagGctgagaacatggctgacctc	12	7	9	13	0	1	3	1	2	0	2	3	4	2	3	3	2	3	3	3	2	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:27290985G>T	ENST00000397501.1	+	16	1829	c.1021G>T	c.(1021-1023)Gct>Tct	p.A341S	PTK2B_ENST00000420218.2_Missense_Mutation_p.A341S|PTK2B_ENST00000517339.1_Missense_Mutation_p.A341S|PTK2B_ENST00000338238.4_Missense_Mutation_p.A341S|PTK2B_ENST00000397497.4_Missense_Mutation_p.A87S|PTK2B_ENST00000544172.1_Missense_Mutation_p.A341S|PTK2B_ENST00000346049.5_Missense_Mutation_p.A341S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	341	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CCTAGCAGAGGCTGAGAACAT	0.577																																																	0													88	82	84					8																	27290985		2203	4300	6503	SO:0001583	missense	0			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.1021G>T	8.37:g.27290985G>T	ENSP00000380638:p.Ala341Ser		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A341S	ENST00000397501.1	37	c.1021	CCDS6057.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.827804|4.827804	0.90955|0.90955	.|.	.|.	ENSG00000120899|ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497|ENST00000519512	T;T;T;T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86;1.86;1.86;1.86|.	5.52|5.52	5.52|5.52	0.82312|0.82312	FERM domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73621|0.73621	0.3610|0.3610	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.61080|.	0.989;0.989;0.985;0.989|.	P;P;D;D|.	0.64410|.	0.893;0.893;0.918;0.925|.	T|T	0.72257|0.72257	-0.4346|-0.4346	10|5	0.59425|.	D|.	0.04|.	.|.	16.9375|16.9375	0.86207|0.86207	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	346;87;341;341|.	Q59GM4;E9PBI4;Q14289-2;Q14289|.	.;.;.;FAK2_HUMAN|.	S|V	341;346;341;341;341;341;341;87|114	ENSP00000380638:A341S;ENSP00000342242:A341S;ENSP00000440926:A341S;ENSP00000332816:A341S;ENSP00000391995:A341S;ENSP00000427931:A341S;ENSP00000380634:A87S|.	ENSP00000342242:A341S|.	A|G	+|+	1|2	0|0	PTK2B|PTK2B	27346902|27346902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.756000|0.756000	0.42949|0.42949	9.318000|9.318000	0.96334|0.96334	2.600000|2.600000	0.87896|0.87896	0.561000|0.561000	0.74099|0.74099	GCT|GGC	PTK2B	-	pfscan_FERM_domain	ENSG00000120899		0.577	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	-	0	38	0	G	NM_004103		27290985	1	tier1	-	no_errors	ENST00000346049	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	27290985	G	T	27290985	3	4	184	1	0	0	0	0	1	0	0	0	12806	1203	42	3	1059	3	PTK2B	8	27290985	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	4839711	27290985	119073037	213	45890											
TGS1	96764	genome.wustl.edu	37	chr8	56695312	56695312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatctgcttcgcagggatcGaaaattgtacaatttgggat	12	13	10	6	2	1	0	0	0	1	0	3	3	1	2	0	2	2	3	0	2	5	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:56695312G>A	ENST00000260129.5	+	2	584	c.107G>A	c.(106-108)cGa>cAa	p.R36Q		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	36					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CGCAGGGATCGAAAATTGTAC	0.313																																					Esophageal Squamous(34;275 823 4842 34837 48447)												0													72	80	77					8																	56695312		2203	4299	6502	SO:0001583	missense	0			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.107G>A	8.37:g.56695312G>A	ENSP00000260129:p.Arg36Gln		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.R36Q	ENST00000260129.5	37	c.107	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442574	0.83993	.	.	ENSG00000137574	ENST00000260129	T	0.16897	2.31	5.16	5.16	0.70880	.	0.194769	0.33875	N	0.004467	T	0.41949	0.1181	M	0.76574	2.34	0.44409	D	0.997324	D	0.89917	1.0	D	0.65140	0.932	T	0.33777	-0.9855	10	0.72032	D	0.01	-13.8235	17.1982	0.86899	0.0:0.0:1.0:0.0	.	36	Q96RS0	TGS1_HUMAN	Q	36	ENSP00000260129:R36Q	ENSP00000260129:R36Q	R	+	2	0	TGS1	56857866	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	6.713000	0.74686	2.559000	0.86315	0.563000	0.77884	CGA	TGS1	-	NULL	ENSG00000137574		0.313	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1	-	0	134	0	G	NM_024831		56695312	1	tier1	-	no_errors	ENST00000260129	ensembl	human	known	74_37	missense	20.99	127	34	SNP	1.000	A	A	56695312	G	A	56695312	3	1	184	1	0	0	0	0	1	0	0	0	15884	1058	37	1	113	1	TGS1	8	56695312	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	29404327	56695312	89668710	214	45891											
LYN	4067	genome.wustl.edu	37	chr8	56912040	56912040	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttggatgtttcactattaAgtctgatgtgtggtcctttg	6	19	10	6	0	2	1	1	1	1	0	3	2	3	2	1	2	0	1	1	2	2	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:56912040A>C	ENST00000519728.1	+	12	1564	c.1268A>C	c.(1267-1269)aAg>aCg	p.K423T	LYN_ENST00000520220.2_Missense_Mutation_p.K402T	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	423	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)	TTCACTATTAAGTCTGATGTG	0.398																																																	0													137	132	134					8																	56912040		2203	4300	6503	SO:0001583	missense	0			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.1268A>C	8.37:g.56912040A>C	ENSP00000428924:p.Lys423Thr		A0AVQ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.K423T	ENST00000519728.1	37	c.1268	CCDS6162.1	8	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590636	0.86851	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.14391	2.51;2.51	4.89	4.89	0.63831	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.45585	-0.9251	10	0.87932	D	0	.	14.8317	0.70153	1.0:0.0:0.0:0.0	.	493;423	Q6NUK7;P07948	.;LYN_HUMAN	T	423;402	ENSP00000428924:K423T;ENSP00000428424:K402T	ENSP00000428924:K423T	K	+	2	0	LYN	57074594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	1.970000	0.57323	0.482000	0.46254	AAG	LYN	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000254087		0.398	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	HGNC	protein_coding	OTTHUMT00000378155.1	-	0	100	0	A	NM_002350		56912040	1	tier1	-	no_errors	ENST00000519728	ensembl	human	known	74_37	missense	11.50	100	13	SNP	1.000	C	C	56912040	A	C	56912040	3	2	184	1	0	0	0	0	1	0	0	0	9143	72	3	4	1310	4	LYN	8	56912040	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	216728	56912040	89451982	215	45892											
ASPH	444	genome.wustl.edu	37	chr8	62559369	62559369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctacatcagtcgccataaGaaactcatcatcctcttgtt	12	13	4	12	1	5	1	3	0	2	1	7	1	6	1	2	0	2	1	2	0	3	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:62559369G>C	ENST00000379454.4	-	6	746	c.559C>G	c.(559-561)Ctt>Gtt	p.L187V	ASPH_ENST00000517847.2_Missense_Mutation_p.L173V|ASPH_ENST00000445642.3_Missense_Mutation_p.L173V|ASPH_ENST00000356457.5_Missense_Mutation_p.L187V|ASPH_ENST00000541428.1_Missense_Mutation_p.L158V|ASPH_ENST00000517903.1_Missense_Mutation_p.L173V|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000522919.1_5'Flank	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	187	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GTCGCCATAAGAAACTCATCA	0.388																																																	0													387	389	388					8																	62559369		2203	4300	6503	SO:0001583	missense	0			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.559C>G	8.37:g.62559369G>C	ENSP00000368767:p.Leu187Val		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L187V	ENST00000379454.4	37	c.559	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977104	0.34848	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000356457;ENST00000519234;ENST00000517903;ENST00000445642;ENST00000517847	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.48	1.48	0.22813	Aspartyl beta-hydroxylase/Triadin domain (1);	0.945325	0.08945	N	0.870918	T	0.46756	0.1409	N	0.22421	0.69	0.09310	N	1	P;P;P;P;B;P;P;B	0.48350	0.704;0.909;0.883;0.51;0.052;0.617;0.883;0.367	B;P;P;B;B;B;P;B	0.55577	0.192;0.779;0.625;0.106;0.012;0.11;0.625;0.232	T	0.30679	-0.9970	10	0.23891	T	0.37	-1.3775	4.0294	0.09701	0.1819:0.0:0.4938:0.3242	.	187;173;173;158;187;187;173;187	B8Y0L3;B7ZM95;B7ZM96;F5H667;F8W7A9;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;ASPH_HUMAN	V	187;158;187;187;202;173;173;173	ENSP00000437864:L158V;ENSP00000368767:L187V;ENSP00000348841:L187V;ENSP00000427823:L202V;ENSP00000430245:L173V;ENSP00000394013:L173V;ENSP00000429954:L173V	ENSP00000348841:L187V	L	-	1	0	ASPH	62721923	0.374000	0.25081	0.003000	0.11579	0.000000	0.00434	0.974000	0.29436	0.054000	0.16065	-0.181000	0.13052	CTT	ASPH	-	pfam_Asp-B-hydro/Triadin_dom	ENSG00000198363		0.388	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	-	0	60	0	G	NM_004318		62559369	-1	tier1	-	no_errors	ENST00000379454	ensembl	human	known	74_37	missense	19.44	58	14	SNP	0.002	C	C	62559369	G	C	62559369	3	2	184	1	0	0	0	0	1	0	0	0	1054	942	33	5	1809	5	ASPH	8	62559369	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	5647329	62559369	83804653	216	45893											
PREX2	80243	genome.wustl.edu	37	chr8	69103972	69103972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	tacagggcattctacttggaCaagtcaaattcaccaccaaa	15	9	6	11	0	3	0	2	0	1	0	3	1	3	1	2	2	2	1	2	2	5	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:69103972C>G	ENST00000288368.4	+	36	4639	c.4362C>G	c.(4360-4362)gaC>gaG	p.D1454E		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	1454					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						TCTACTTGGACAAGTCAAATT	0.313																																																	0													103	103	103					8																	69103972		2203	4299	6502	SO:0001583	missense	0			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.4362C>G	8.37:g.69103972C>G	ENSP00000288368:p.Asp1454Glu		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D1454E	ENST00000288368.4	37	c.4362	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	C	3.668	-0.068172	0.07228	.	.	ENSG00000046889	ENST00000288368	T	0.57752	0.38	5.48	5.48	0.80851	.	0.053230	0.64402	D	0.000001	T	0.31295	0.0792	N	0.20401	0.57	0.50467	D	0.999871	B	0.02656	0.0	B	0.04013	0.001	T	0.15636	-1.0430	10	0.02654	T	1	.	10.2986	0.43639	0.0:0.8492:0.0:0.1508	.	1454	Q70Z35	PREX2_HUMAN	E	1454	ENSP00000288368:D1454E	ENSP00000288368:D1454E	D	+	3	2	PREX2	69266526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.710000	0.25748	2.729000	0.93468	0.650000	0.86243	GAC	PREX2	-	NULL	ENSG00000046889		0.313	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	75	0	C	NM_025170		69103972	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	16.90	59	12	SNP	1.000	G	G	69103972	C	G	69103972	3	3	184	1	0	0	0	0	1	0	0	0	12519	477	17	5	4733	5	PREX2	8	69103972	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	6544603	69103972	77260050	217	45894											
CDH17	1015	genome.wustl.edu	37	chr8	95188895	95188895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cactataattccattagcgtCcagggctgcaacctgatgtt	10	12	8	11	1	0	1	0	1	0	0	2	1	2	1	3	1	3	3	3	1	4	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:95188895C>G	ENST00000027335.3	-	5	422	c.298G>C	c.(298-300)Gac>Cac	p.D100H	CDH17_ENST00000450165.2_Missense_Mutation_p.D100H|CDH17_ENST00000441892.2_Missense_Mutation_p.D100H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCATTAGCGTCCAGGGCTGCA	0.443																																																	0													117	101	106					8																	95188895		2203	4300	6503	SO:0001583	missense	0			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.298G>C	8.37:g.95188895C>G	ENSP00000027335:p.Asp100His		Q15336|Q2M2E0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D100H	ENST00000027335.3	37	c.298	CCDS6260.1	8	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023876	0.35701	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.80824	-0.79;-0.79;-0.79;-1.42	5.93	4.15	0.48705	Cadherin (3);Cadherin-like (1);	0.228496	0.30830	N	0.008798	D	0.91047	0.7183	H	0.95187	3.635	0.33102	D	0.53941	D;D	0.89917	1.0;0.996	D;P	0.74674	0.984;0.819	D	0.92422	0.5946	10	0.66056	D	0.02	-18.1002	7.7078	0.28661	0.0:0.6909:0.0:0.3091	.	100;100	E7EN24;Q12864	.;CAD17_HUMAN	H	100	ENSP00000027335:D100H;ENSP00000392811:D100H;ENSP00000401468:D100H;ENSP00000428189:D100H	ENSP00000027335:D100H	D	-	1	0	CDH17	95258071	0.992000	0.36948	0.245000	0.24217	0.125000	0.20455	0.691000	0.25467	0.857000	0.35407	0.655000	0.94253	GAC	CDH17	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000079112		0.443	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1	-	0	78	0	C	NM_004063		95188895	-1	tier1	-	no_errors	ENST00000027335	ensembl	human	known	74_37	missense	17.89	78	17	SNP	0.995	G	G	95188895	C	G	95188895	3	3	184	1	0	0	0	0	1	0	0	0	3109	855	30	5	2256	5	CDH17	8	95188895	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	26084923	95188895	51175127	218	45895											
UBR5	51366	genome.wustl.edu	37	chr8	103274200	103274200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgccaaatccattgctgaGaaaacagcatcagcatctga	16	8	7	10	0	2	2	1	2	1	1	3	3	3	2	2	0	5	3	2	0	4	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:103274200G>C	ENST00000520539.1	-	55	8391	c.7785C>G	c.(7783-7785)ttC>ttG	p.F2595L	UBR5_ENST00000220959.4_Missense_Mutation_p.F2594L|UBR5_ENST00000518205.1_Missense_Mutation_p.F323L|UBR5_ENST00000521922.1_Missense_Mutation_p.F2588L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2595	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)			CCATTGCTGAGAAAACAGCAT	0.403																																					Ovarian(131;96 1741 5634 7352 27489)												0													140	135	136					8																	103274200		2203	4300	6503	SO:0001583	missense	0			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.7785C>G	8.37:g.103274200G>C	ENSP00000429084:p.Phe2595Leu		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.F2595L	ENST00000520539.1	37	c.7785	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448937	0.43531	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.48	2.68	0.31781	HECT (4);	0.000000	0.85682	D	0.000000	T	0.31389	0.0795	N	0.05608	-0.01	0.46749	D	0.99918	B;B	0.20887	0.049;0.049	B;B	0.34346	0.18;0.18	T	0.07712	-1.0758	10	0.32370	T	0.25	.	6.0031	0.19531	0.435:0.0:0.565:0.0	.	2588;2595	E7EMW7;O95071	.;UBR5_HUMAN	L	2595;2594;323;2588	ENSP00000429084:F2595L;ENSP00000220959:F2594L;ENSP00000428693:F323L;ENSP00000427819:F2588L	ENSP00000220959:F2594L	F	-	3	2	UBR5	103343376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.643000	0.37217	1.307000	0.44944	0.585000	0.79938	TTC	UBR5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000104517		0.403	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	-	0	91	0	G	NM_015902		103274200	-1	tier1	-	no_errors	ENST00000520539	ensembl	human	known	74_37	missense	17.81	60	13	SNP	1.000	C	C	103274200	G	C	103274200	3	2	184	1	0	0	0	0	1	0	0	0	16954	933	33	5	634	5	UBR5	8	103274200	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	8085305	103274200	43089822	219	45896											
ZFPM2	23414	genome.wustl.edu	37	chr8	106813358	106813358	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctgattccgtgatcaacTttcaccaacacctgttctcc	8	13	5	15	1	3	2	2	2	1	0	5	2	4	2	4	0	3	2	4	0	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:106813358T>A	ENST00000407775.2	+	8	1298	c.1048T>A	c.(1048-1050)Ttt>Att	p.F350I	ZFPM2_ENST00000378472.4_Missense_Mutation_p.F81I|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.F218I|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.F218I|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	350					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CGTGATCAACTTTCACCAACA	0.483																																																	0													203	197	199					8																	106813358		2029	4207	6236	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1048T>A	8.37:g.106813358T>A	ENSP00000384179:p.Phe350Ile		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F350I	ENST00000407775.2	37	c.1048	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901429	0.72754	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);	0.093893	0.85682	D	0.000000	T	0.28732	0.0712	L	0.43923	1.385	0.80722	D	1	P	0.49185	0.92	B	0.39152	0.292	T	0.09662	-1.0664	10	0.72032	D	0.01	.	16.1988	0.82053	0.0:0.0:0.0:1.0	.	350	Q8WW38	FOG2_HUMAN	I	350;218;218;81	ENSP00000384179:F350I;ENSP00000430757:F218I;ENSP00000428720:F218I;ENSP00000367733:F81I	ENSP00000367733:F81I	F	+	1	0	ZFPM2	106882534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.284000	0.76573	0.528000	0.53228	TTT	ZFPM2	-	smart_Znf_C2H2-like	ENSG00000169946		0.483	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0	51	0	T			106813358	1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	7.81	59	5	SNP	1.000	A	A	106813358	T	A	106813358	3	1	184	1	0	0	0	0	1	0	0	0	17706	1609	56	5	1078	5	ZFPM2	8	106813358	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	3539158	106813358	39550664	220	45897											
C8orf85	441376	genome.wustl.edu	37	chr8	117950617	117950617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacggcaggagcacggacatCcaggaggaggccctcgccgc	9	2	16	14	4	0	0	0	0	0	0	2	5	1	4	3	6	1	2	3	6	0	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:117950617C>G	ENST00000378279.3	+	1	180	c.135C>G	c.(133-135)atC>atG	p.I45M		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	45					lung development (GO:0030324)												GCACGGACATCCAGGAGGAGG	0.697																																																	0													18	19	19					8																	117950617		2203	4297	6500	SO:0001583	missense	0			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.135C>G	8.37:g.117950617C>G	ENSP00000367528:p.Ile45Met		A5PKU8	Missense_Mutation	SNP	NULL	p.I45M	ENST00000378279.3	37	c.135	CCDS34935.1	8	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297264	0.23650	.	.	ENSG00000205002	ENST00000378279	T	0.33216	1.42	3.62	-4.18	0.03846	.	2.067280	0.02987	N	0.146399	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.22753	0.041	T	0.10132	-1.0643	10	0.41790	T	0.15	2.368	0.0778	0.00029	0.2625:0.1869:0.2389:0.3117	.	45	Q4LEZ3	AARD_HUMAN	M	45	ENSP00000367528:I45M	ENSP00000367528:I45M	I	+	3	3	C8orf85	118019798	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.579000	0.05834	-0.864000	0.04078	-0.262000	0.10625	ATC	AARD	-	NULL	ENSG00000205002		0.697	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARD	HGNC	protein_coding	OTTHUMT00000381195.1	-	0	54	0	C	NM_001025357		117950617	1	tier1	-	no_errors	ENST00000378279	ensembl	human	known	74_37	missense	9.38	58	6	SNP	0.000	G	G	117950617	C	G	117950617	3	3	184	1	0	0	0	0	1	0	0	0	2448	845	30	5	137	5	C8orf85	8	117950617	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	11137259	117950617	28413405	221	45898											
COL14A1	7373	genome.wustl.edu	37	chr8	121292979	121292979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtacacaaggatggcattGatcttgcaggtatgcattat	11	13	11	6	0	1	1	0	1	1	0	1	2	1	2	0	4	3	5	0	4	4	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:121292979G>C	ENST00000297848.3	+	30	3946	c.3676G>C	c.(3676-3678)Gat>Cat	p.D1226H	COL14A1_ENST00000247781.3_Missense_Mutation_p.D1131H|COL14A1_ENST00000309791.4_Missense_Mutation_p.D1226H	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)			GGATGGCATTGATCTTGCAGG	0.363																																																	0													105	101	103					8																	121292979		2203	4300	6503	SO:0001583	missense	0				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.3676G>C	8.37:g.121292979G>C	ENSP00000297848:p.Asp1226His			Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.D1226H	ENST00000297848.3	37	c.3676	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505625	0.26949	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.88431	-2.28;-2.31;-2.38	5.76	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);	0.297267	0.40469	N	0.001086	T	0.75700	0.3885	N	0.22421	0.69	0.46749	D	0.99918	P	0.38642	0.641	B	0.32289	0.143	T	0.72880	-0.4158	10	0.33940	T	0.23	.	4.4697	0.11706	0.2325:0.0:0.7675:0.0	.	1226	Q05707	COEA1_HUMAN	H	1226;1226;1131	ENSP00000311809:D1226H;ENSP00000297848:D1226H;ENSP00000247781:D1131H	ENSP00000247781:D1131H	D	+	1	0	COL14A1	121362160	0.925000	0.31364	0.267000	0.24556	0.041000	0.13682	5.247000	0.65416	2.736000	0.93811	0.655000	0.94253	GAT	COL14A1	-	superfamily_ConA-like_lec_gl_sf	ENSG00000187955		0.363	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0	46	0	G	NM_021110		121292979	1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	missense	13.56	51	8	SNP	0.034	C	C	121292979	G	C	121292979	3	2	184	1	0	0	0	0	1	0	0	0	3678	1290	45	5	3790	5	COL14A1	8	121292979	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3342362	121292979	25071043	222	45899											
MRPL13	28998	genome.wustl.edu	37	chr8	121455468	121455468	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaatccctgaagtcttatAgatgccatagcagcaagttt	12	13	8	8	0	1	2	0	1	1	1	2	2	2	2	2	0	3	4	2	0	6	5	rs148855915		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:121455468A>G	ENST00000306185.3	-	2	399	c.108T>C	c.(106-108)tcT>tcC	p.S36S	MTBP_ENST00000305949.1_5'Flank	NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	36					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GAAGTCTTATAGATGCCATAG	0.398																																																	0													141	132	135					8																	121455468		2203	4300	6503	SO:0001819	synonymous_variant	0			AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"Mitochondrial ribosomal proteins / large subunits"	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.108T>C	8.37:g.121455468A>G			B2R4R8|Q9UI04	Silent	SNP	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type	p.S36	ENST00000306185.3	37	c.108	CCDS6332.1	8																																																																																			MRPL13	-	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type	ENSG00000172172		0.398	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL13	HGNC	protein_coding	OTTHUMT00000381523.1	-	0	61	0	A	NM_014078		121455468	-1	tier1	-	no_errors	ENST00000306185	ensembl	human	known	74_37	silent	13.56	51	8	SNP	0.000	G	G	121455468	A	G	121455468	2	3	184	1	0	0	0	0	0	0	0	1	9816	407	15	4		4	MRPL13	8	121455468	Silent	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	162489	121455468	24908554	223	45900											
WISP1	8840	genome.wustl.edu	37	chr8	134225290	134225290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgcgctcagcagcttgggGacaactgcacggaggctgcc	7	7	15	12	2	1	0	1	0	0	0	1	2	1	2	1	4	6	5	1	4	1	1	rs202221836		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:134225290G>T	ENST00000250160.6	+	2	359	c.253G>T	c.(253-255)Gac>Tac	p.D85Y	WISP1_ENST00000220856.6_Missense_Mutation_p.D85Y|WISP1_ENST00000517423.1_Missense_Mutation_p.D85Y|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	85	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)			GCAGCTTGGGGACAACTGCAC	0.637																																																	0													59	59	59					8																	134225290		2203	4300	6503	SO:0001583	missense	0			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.253G>T	8.37:g.134225290G>T	ENSP00000250160:p.Asp85Tyr		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.D85Y	ENST00000250160.6	37	c.253	CCDS6371.1	8	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698320	0.88830	.	.	ENSG00000104415	ENST00000250160;ENST00000517423;ENST00000220856	T;T;T	0.64991	-0.13;-0.13;-0.13	5.13	5.13	0.70059	Insulin-like growth factor-binding protein, IGFBP (3);Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site (1);	0.152713	0.56097	D	0.000024	T	0.72740	0.3498	L	0.42245	1.32	0.30488	N	0.771678	D;D;D	0.71674	0.989;0.974;0.998	P;P;D	0.66979	0.883;0.748;0.948	T	0.73646	-0.3917	10	0.72032	D	0.01	-29.0188	17.5582	0.87898	0.0:0.0:1.0:0.0	.	85;85;85	E7EMM5;O95388-2;O95388	.;.;WISP1_HUMAN	Y	85	ENSP00000250160:D85Y;ENSP00000427744:D85Y;ENSP00000220856:D85Y	ENSP00000220856:D85Y	D	+	1	0	WISP1	134294472	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.927000	0.87577	2.394000	0.81467	0.549000	0.68633	GAC	WISP1	-	pfam_IGFBP-like,smart_IGFBP-like,pirsf_IGFBP_CNN	ENSG00000104415		0.637	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP1	HGNC	protein_coding	OTTHUMT00000378794.2	-	0	61	0	G	NM_003882		134225290	1	tier1	-	no_errors	ENST00000250160	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	T	T	134225290	G	T	134225290	3	4	184	1	0	0	0	0	1	0	0	0	17421	1174	41	3	259	3	WISP1	8	134225290	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	12769822	134225290	12138732	224	45901											
OPLAH	26873	genome.wustl.edu	37	chr8	145113708	145113708	+	Silent	SNP	G	G	A	0	0	1	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	atgagcaccacagccaggctGcggatgcctcgagatagcag	11	5	13	12	2	0	2	0	1	0	1	1	4	0	3	3	2	5	3	3	2	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:145113708G>A	ENST00000426825.1	-	5	636	c.555C>T	c.(553-555)cgC>cgT	p.R185R	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	185					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)			CAGCCAGGCTGCGGATGCCTC	0.682																																																	0													21	28	26					8																	145113708		2096	4195	6291	SO:0001819	synonymous_variant	0			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.555C>T	8.37:g.145113708G>A			A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N	p.R185	ENST00000426825.1	37	c.555		8																																																																																			OPLAH	-	pfam_Hydant_A_N	ENSG00000178814		0.682	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		-	0	62	0	G	NM_017570		145113708	-1	tier1	-	no_errors	ENST00000426825	ensembl	human	known	74_37	silent	14.29	42	7	SNP	0.992	A	A	145113708	G	A	145113708	2	1	184	1	0	0	0	0	0	0	0	1	10915	1306	46	3		3	OPLAH	8	145113708	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	10888418	145113708	1250314	225	45902											
ZNF251	90987	genome.wustl.edu	37	chr8	145948071	145948071	+	Missense_Mutation	SNP	T	T	G	0	1	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	ggctaaagcctcttccacatTcattacacttgtagggtttc	9	14	7	11	0	2	0	1	0	1	0	4	0	3	0	2	2	2	3	2	2	4	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr8:145948071T>G	ENST00000292562.7	-	5	1249	c.974A>C	c.(973-975)gAa>gCa	p.E325A	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TCTTCCACATTCATTACACTT	0.493																																																	0													38	43	41					8																	145948071		2170	4289	6459	SO:0001583	missense	0			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.974A>C	8.37:g.145948071T>G	ENSP00000292562:p.Glu325Ala		Q2M219	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E325A	ENST00000292562.7	37	c.974	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922768	0.52653	.	.	ENSG00000198169	ENST00000292562	T	0.35236	1.32	3.0	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38746	0.1052	M	0.70595	2.14	0.22412	N	0.999123	B	0.14012	0.009	B	0.19148	0.024	T	0.38972	-0.9636	9	0.72032	D	0.01	-5.8107	10.5131	0.44874	0.0:0.0:0.0:1.0	.	325	Q9BRH9	ZN251_HUMAN	A	325	ENSP00000292562:E325A	ENSP00000292562:E325A	E	-	2	0	ZNF251	145918880	0.001000	0.12720	0.689000	0.30133	0.946000	0.59487	1.109000	0.31135	1.362000	0.46000	0.460000	0.39030	GAA	ZNF251	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198169		0.493	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1	-	0	50	0	T	NM_138367		145948071	-1	tier1	-	no_errors	ENST00000292562	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.775	G	G	145948071	T	G	145948071	3	3	184	1	0	0	0	0	1	0	0	0	17844	1783	62	4	1045	4	ZNF251	8	145948071	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	834363	145948071	415951	226	45903											
SMARCA2	6595	genome.wustl.edu	37	chr9	2058298	2058298	+	Missense_Mutation	SNP	T	T	C	0	1	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	ttggatcttctaggaataccTgaacagtattttgcaacatg	12	14	8	7	0	2	1	0	1	2	0	2	3	2	3	1	2	4	2	1	2	6	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:2058298T>C	ENST00000382203.1	+	8	1564	c.1355T>C	c.(1354-1356)cTg>cCg	p.L452P	SMARCA2_ENST00000349721.2_Missense_Mutation_p.L452P|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L452P|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L452P			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	452	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)		TAGGAATACCTGAACAGTATT	0.423																																																	0													144	155	151					9																	2058298		2203	4300	6503	SO:0001583	missense	0			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.1355T>C	9.37:g.2058298T>C	ENSP00000371638:p.Leu452Pro		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.L452P	ENST00000382203.1	37	c.1355	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459832	0.63401	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.84	5.84	0.93424	Helicase/SANT-associated, DNA binding (1);HAS subgroup (1);HSA (1);	0.000000	0.64402	D	0.000003	D	0.87148	0.6105	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.992;0.998;0.999	D	0.89745	0.3936	10	0.87932	D	0	-18.2976	16.2302	0.82332	0.0:0.0:0.0:1.0	.	53;452;452	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	P	452	ENSP00000265773:L452P;ENSP00000349788:L452P;ENSP00000392081:L452P;ENSP00000371638:L452P;ENSP00000371629:L452P	ENSP00000265773:L452P	L	+	2	0	SMARCA2	2048298	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.963000	0.87922	2.228000	0.72767	0.533000	0.62120	CTG	SMARCA2	-	pfam_Helicase/SANT-assoc_DNA-bd,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd	ENSG00000080503		0.423	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	-	0	55	0	T	NM_003070		2058298	1	tier1	-	no_errors	ENST00000349721	ensembl	human	known	74_37	missense	45.68	44	37	SNP	1.000	C	C	2058298	T	C	2058298	3	2	184	1	0	0	0	0	1	0	0	0	14814	1580	55	4	1381	4	SMARCA2	9	2058298	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09		2058298	139155133	227	45904											
UBAP2	55833	genome.wustl.edu	37	chr9	33927920	33927920	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcctgaggatgcggaacttGagacggaggtcgctgccgtg	7	7	17	10	5	0	2	0	2	0	1	1	6	0	5	2	4	3	1	2	4	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:33927920G>C	ENST00000379238.1	-	20	2363	c.2246C>G	c.(2245-2247)tCa>tGa	p.S749*	UBAP2_ENST00000360802.1_Nonsense_Mutation_p.S749*|UBAP2_ENST00000379235.1_5'UTR|UBAP2_ENST00000449054.1_Nonsense_Mutation_p.S749*|UBAP2_ENST00000379239.4_Nonsense_Mutation_p.S482*|UBAP2_ENST00000539807.1_Nonsense_Mutation_p.S504*|UBAP2_ENST00000418786.2_Missense_Mutation_p.Q674E					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)		TGCGGAACTTGAGACGGAGGT	0.612																																																	0													85	78	80					9																	33927920		2203	4300	6503	SO:0001587	stop_gained	0			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.2246C>G	9.37:g.33927920G>C	ENSP00000368540:p.Ser749*			Nonsense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.S749*	ENST00000379238.1	37	c.2246	CCDS6547.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.251590|4.251590	0.80135|0.80135	.|.	.|.	ENSG00000137073|ENSG00000137073	ENST00000418786|ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000351580	T|.	0.17213|.	2.29|.	5.3|5.3	3.46|3.46	0.39613|0.39613	.|.	.|0.572374	.|0.18749	.|N	.|0.132258	T|.	0.42471|.	0.1204|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.19200|.	0.034|.	B|.	0.19391|.	0.025|.	T|.	0.26360|.	-1.0105|.	8|.	0.02654|0.46703	T|T	1|0.11	-0.4967|-0.4967	9.8687|9.8687	0.41160|0.41160	0.0732:0.0:0.7872:0.1396|0.0732:0.0:0.7872:0.1396	.|.	674|.	E7EWG4|.	.|.	E|X	674|749;749;749;658;482;504;185	ENSP00000404436:Q674E|.	ENSP00000404436:Q674E|ENSP00000259602:S185X	Q|S	-|-	1|2	0|0	UBAP2|UBAP2	33917920|33917920	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	4.742000|4.742000	0.62103|0.62103	0.613000|0.613000	0.30089|0.30089	0.655000|0.655000	0.94253|0.94253	CAA|TCA	UBAP2	-	NULL	ENSG00000137073		0.612	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	-	0	35	0	G	NM_018449		33927920	-1	tier1	-	no_errors	ENST00000360802	ensembl	human	known	74_37	nonsense	26.92	19	7	SNP	0.018	C	C	33927920	G	C	33927920	4	2	184	1	0	0	0	0	0	1	0	0	16886	1294	45	5	1153	5	UBAP2	9	33927920	Nonsense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	31869622	33927920	107285511	228	45905											
SYK	6850	genome.wustl.edu	37	chr9	93607824	93607824	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccatggaaaaatctctcggGaagaatctgagcaaattgtc	14	10	9	8	1	2	2	0	1	2	1	6	4	3	4	1	2	1	1	1	2	5	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:93607824G>T	ENST00000375754.4	+	3	674	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	SYK_ENST00000375751.4_Nonsense_Mutation_p.E176*|SYK_ENST00000375747.1_Nonsense_Mutation_p.E176*|SYK_ENST00000375746.1_Nonsense_Mutation_p.E176*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	176	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						AATCTCTCGGGAAGAATCTGA	0.507			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0													89	85	86					9																	93607824		2203	4300	6503	SO:0001587	stop_gained	0			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.526G>T	9.37:g.93607824G>T	ENSP00000364907:p.Glu176*			Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E176*	ENST00000375754.4	37	c.526	CCDS6688.1	9	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169872	0.78452	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	.	.	.	5.1	4.14	0.48551	.	0.286276	0.36893	N	0.002341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	16.3811	0.83461	0.0:0.1318:0.8682:0.0	.	.	.	.	X	176	.	ENSP00000364898:E176X	E	+	1	0	SYK	92647645	1.000000	0.71417	0.198000	0.23420	0.038000	0.13279	4.855000	0.62925	2.803000	0.96430	0.585000	0.79938	GAA	SYK	-	pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,prints_SH2	ENSG00000165025		0.507	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	HGNC	protein_coding	OTTHUMT00000053018.1	-	0	65	0	G			93607824	1	tier1	-	no_errors	ENST00000375746	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	0.305	T	T	93607824	G	T	93607824	4	4	184	1	0	0	0	0	0	1	0	0	15485	1175	41	3	532	3	SYK	9	93607824	Nonsense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	59679904	93607824	47605607	229	45906											
BICD2	23299	genome.wustl.edu	37	chr9	95526873	95526873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttgagctggtgcttctcctCgagcaccgccagcccgtact	5	10	10	16	3	1	1	0	1	1	0	3	2	1	1	4	1	5	4	4	1	1	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:95526873C>G	ENST00000375512.3	-	1	221	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	BICD2_ENST00000356884.6_Missense_Mutation_p.E52Q	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	52					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						TGCTTCTCCTCGAGCACCGCC	0.667																																																	0													20	14	16					9																	95526873		2170	4258	6428	SO:0001583	missense	0			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.154G>C	9.37:g.95526873C>G	ENSP00000364662:p.Glu52Gln		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.E52Q	ENST00000375512.3	37	c.154	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	.	36	5.722030	0.96839	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.59083	0.29;0.3	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	M	0.76727	2.345	0.58432	D	0.999999	D;D	0.76494	0.999;0.976	D;P	0.66979	0.948;0.749	T	0.70403	-0.4881	10	0.24483	T	0.36	-27.0688	15.7501	0.77976	0.0:1.0:0.0:0.0	.	52;52	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	Q	52	ENSP00000349351:E52Q;ENSP00000364662:E52Q	ENSP00000349351:E52Q	E	-	1	0	BICD2	94566694	1.000000	0.71417	0.986000	0.45419	0.970000	0.65996	7.406000	0.80017	2.388000	0.81334	0.400000	0.26472	GAG	BICD2	-	NULL	ENSG00000185963		0.667	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	-	0	46	0	C	NM_015250		95526873	-1	tier1	-	no_errors	ENST00000356884	ensembl	human	known	74_37	missense	23.73	43	14	SNP	1.000	G	G	95526873	C	G	95526873	3	3	184	1	0	0	0	0	1	0	0	0	1431	893	31	5	2451	5	BICD2	9	95526873	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1919049	95526873	45686558	230	45907											
PTPDC1	138639	genome.wustl.edu	37	chr9	96870182	96870182	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttaagcacacgctggaaGaaaaaagaaaaatgacaaaa	23	6	7	5	1	0	3	0	1	0	2	0	4	0	4	0	1	1	2	0	1	10	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:96870182G>C	ENST00000375360.3	+	10	2561	c.2221G>C	c.(2221-2223)Gaa>Caa	p.E741Q	PTPDC1_ENST00000467049.1_3'UTR|PTPDC1_ENST00000288976.3_Missense_Mutation_p.E793Q	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	741					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						CACGCTGGAAGAAAAAAGAAA	0.368																																																	0													31	33	32					9																	96870182		2202	4299	6501	SO:0001583	missense	0			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.2221G>C	9.37:g.96870182G>C	ENSP00000364509:p.Glu741Gln		Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.E741Q	ENST00000375360.3	37	c.2221	CCDS6707.1	9	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405755	0.83230	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.18502	2.21;2.21	5.71	5.71	0.89125	.	0.319307	0.37483	N	0.002069	T	0.42449	0.1203	M	0.73962	2.25	0.43065	D	0.994699	D;D;D;D	0.69078	0.995;0.997;0.995;0.99	P;D;P;P	0.66497	0.881;0.944;0.881;0.742	T	0.26849	-1.0091	10	0.66056	D	0.02	-26.0042	17.0329	0.86466	0.0:0.0:1.0:0.0	.	795;793;795;741	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	Q	741;793	ENSP00000364509:E741Q;ENSP00000288976:E793Q	ENSP00000288976:E793Q	E	+	1	0	PTPDC1	95910003	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.734000	0.55037	2.712000	0.92718	0.650000	0.86243	GAA	PTPDC1	-	NULL	ENSG00000158079		0.368	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPDC1	HGNC	protein_coding	OTTHUMT00000215007.1	-	0	96	0	G	NM_177995, NM_152422		96870182	1	tier1	-	no_errors	ENST00000375360	ensembl	human	known	74_37	missense	19.79	77	19	SNP	1.000	C	C	96870182	G	C	96870182	3	2	184	1	0	0	0	0	1	0	0	0	12816	943	33	5	2497	5	PTPDC1	9	96870182	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1343309	96870182	44343249	231	45908											
FBP2	8789	genome.wustl.edu	37	chr9	97346898	97346898	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggttccgatggaggccagGcagtcaatattggaagatcc	11	9	13	8	1	1	1	1	0	0	1	3	4	3	3	3	5	0	2	3	5	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:97346898G>A	ENST00000375337.3	-	3	453	c.387C>T	c.(385-387)tgC>tgT	p.C129C		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	129					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)				TGGAGGCCAGGCAGTCAATAT	0.483																																																	0													151	123	133					9																	97346898		2203	4300	6503	SO:0001819	synonymous_variant	0			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.387C>T	9.37:g.97346898G>A			Q17R39|Q6FI53	Silent	SNP	pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase	p.C129	ENST00000375337.3	37	c.387	CCDS6711.1	9																																																																																			FBP2	-	pfam_FBPase_class-1/SBPase	ENSG00000130957		0.483	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBP2	HGNC	protein_coding	OTTHUMT00000053189.1		0	47	0	G	NM_003837		97346898	-1			no_errors	ENST00000375337	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.996	A	A	97346898	G	A	97346898	2	1	184	1	0	0	0	0	0	0	0	1	5728	1195	42	3		3	FBP2	9	97346898	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	476716	97346898	43866533	232	45909											
NANS	54187	genome.wustl.edu	37	chr9	100839226	100839226	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgaattcctgcatgaactGaatgttccatttttcaaagt	11	16	7	7	0	1	3	1	3	0	0	3	3	3	3	2	0	2	3	2	0	4	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:100839226G>A	ENST00000210444.5	+	3	445	c.375G>A	c.(373-375)ctG>ctA	p.L125L	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	125					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TGCATGAACTGAATGTTCCAT	0.353																																																	0													124	116	119					9																	100839226		2203	4300	6503	SO:0001819	synonymous_variant	0			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.375G>A	9.37:g.100839226G>A			B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Silent	SNP	pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III	p.L125	ENST00000210444.5	37	c.375	CCDS6733.1	9																																																																																			NANS	-	pfam_Neu5Ac_N	ENSG00000095380		0.353	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANS	HGNC	protein_coding	OTTHUMT00000053359.1	-	0	87	0	G	NM_018946		100839226	1	tier1	-	no_errors	ENST00000210444	ensembl	human	known	74_37	silent	30.70	79	35	SNP	1.000	A	A	100839226	G	A	100839226	2	1	184	1	0	0	0	0	0	0	0	1	10193	1277	45	3		3	NANS	9	100839226	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3492328	100839226	40374205	233	45910											
ABCA1	19	genome.wustl.edu	37	chr9	107579672	107579672	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcatcagaactgctctgaGaaacactgtcctcctgatgg	11	9	9	12	0	2	3	1	2	1	2	4	4	4	3	2	1	4	2	2	1	2	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:107579672G>C	ENST00000374736.3	-	24	3870	c.3476C>G	c.(3475-3477)tCt>tGt	p.S1159C		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1159					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)	ACTGCTCTGAGAAACACTGTC	0.582																																																	0													122	90	101					9																	107579672		2203	4300	6503	SO:0001583	missense	0			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.3476C>G	9.37:g.107579672G>C	ENSP00000363868:p.Ser1159Cys		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1159C	ENST00000374736.3	37	c.3476	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138117	0.56936	.	.	ENSG00000165029	ENST00000374736	D	0.89415	-2.51	5.88	5.88	0.94601	.	0.051493	0.85682	D	0.000000	D	0.89336	0.6686	M	0.70275	2.135	0.80722	D	1	B	0.17465	0.022	B	0.17979	0.02	D	0.84349	0.0531	10	0.37606	T	0.19	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	1159	O95477	ABCA1_HUMAN	C	1159	ENSP00000363868:S1159C	ENSP00000363868:S1159C	S	-	2	0	ABCA1	106619493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.782000	0.95742	0.655000	0.94253	TCT	ABCA1	-	NULL	ENSG00000165029		0.582	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	-	0	17	0	G	NM_005502		107579672	-1	tier1	-	no_errors	ENST00000374736	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	C	C	107579672	G	C	107579672	3	2	184	1	0	0	0	0	1	0	0	0	28	942	33	5	3417	5	ABCA1	9	107579672	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	6740446	107579672	33633759	234	45911											
SNX30	401548	genome.wustl.edu	37	chr9	115580089	115580089	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatcccagcccactcatctCattcccgtaggtagtaagtc	10	10	7	14	1	2	0	2	0	1	0	6	1	4	0	3	1	1	3	3	1	4	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:115580089C>G	ENST00000374232.3	+	3	617	c.453C>G	c.(451-453)ctC>ctG	p.L151L		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	151	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCACTCATCTCATTCCCGTAG	0.463																																																	0													117	116	116					9																	115580089		1919	4129	6048	SO:0001819	synonymous_variant	0			AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"Sorting nexins"	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.453C>G	9.37:g.115580089C>G				Silent	SNP	pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,smart_Phox,pfscan_Phox	p.L151	ENST00000374232.3	37	c.453	CCDS43865.1	9																																																																																			SNX30	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000148158		0.463	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX30	HGNC	protein_coding	OTTHUMT00000053700.1	-	0	47	0	C			115580089	1	tier1	-	no_errors	ENST00000374232	ensembl	human	known	74_37	silent	14.89	40	7	SNP	1.000	G	G	115580089	C	G	115580089	2	3	184	1	0	0	0	0	0	0	0	1	14945	813	29	5		5	SNX30	9	115580089	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	8000417	115580089	25633342	235	45912											
LRSAM1	90678	genome.wustl.edu	37	chr9	130265075	130265075	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	ccagatgatcttcctcaactGtggccacgtctgctgctgcc	6	11	9	15	1	3	2	1	1	2	1	4	2	4	2	4	1	4	2	4	1	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:130265075G>A	ENST00000323301.4	+	25	2673	c.2069G>A	c.(2068-2070)tGt>tAt	p.C690Y	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.C690Y|LRSAM1_ENST00000373324.4_Missense_Mutation_p.C663Y|LRSAM1_ENST00000300417.6_Missense_Mutation_p.C690Y	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	690					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TTCCTCAACTGTGGCCACGTC	0.632																																																	0													23	22	22					9																	130265075		2203	4299	6502	SO:0001583	missense	0			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.2069G>A	9.37:g.130265075G>A	ENSP00000322937:p.Cys690Tyr		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.C690Y	ENST00000323301.4	37	c.2069	CCDS6873.1	9	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902767	0.72754	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	D;D;D;D	0.99741	-6.6;-6.6;-6.6;-6.6	5.36	5.36	0.76844	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	H	0.97540	4.025	0.52501	D	0.999955	P;P	0.46512	0.853;0.879	P;P	0.54210	0.679;0.745	D	0.96970	0.9708	10	0.87932	D	0	-7.5849	16.5782	0.84706	0.0:0.0:1.0:0.0	.	663;690	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	Y	690;663;690;690	ENSP00000300417:C690Y;ENSP00000362421:C663Y;ENSP00000322937:C690Y;ENSP00000362419:C690Y	ENSP00000300417:C690Y	C	+	2	0	LRSAM1	129304896	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.758000	0.62220	2.512000	0.84698	0.505000	0.49811	TGT	LRSAM1	-	pfscan_Znf_RING	ENSG00000148356		0.632	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	-	0	54	0	G	NM_138361		130265075	1	tier1	-	no_errors	ENST00000300417	ensembl	human	known	74_37	missense	14.04	49	8	SNP	1.000	A	A	130265075	G	A	130265075	3	1	184	1	0	0	0	0	1	0	0	0	9078	1377	48	3	2163	3	LRSAM1	9	130265075	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	14684986	130265075	10948356	236	45913											
FAM129B	64855	genome.wustl.edu	37	chr9	130269200	130269200	+	Missense_Mutation	SNP	T	T	A	0	1	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	ggctgctggggctggacaccTgctctccagtctcctggtcg	3	10	14	14	1	2	0	0	0	2	0	5	1	2	1	3	5	2	4	3	5	0	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:130269200T>A	ENST00000373312.3	-	14	2378	c.2165A>T	c.(2164-2166)cAg>cTg	p.Q722L	FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Missense_Mutation_p.Q709L	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	722					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCTGGACACCTGCTCTCCAGT	0.677																																																	0													57	57	57					9																	130269200		2203	4300	6503	SO:0001583	missense	0			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.2165A>T	9.37:g.130269200T>A	ENSP00000362409:p.Gln722Leu		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	pfscan_Pleckstrin_homology	p.Q722L	ENST00000373312.3	37	c.2165	CCDS35145.1	9	.	.	.	.	.	.	.	.	.	.	T	15.33	2.801906	0.50315	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.24151	1.87;1.87	4.84	3.71	0.42584	.	0.768703	0.12287	N	0.482360	T	0.19725	0.0474	L	0.36672	1.1	0.34158	D	0.668386	B;B	0.18310	0.027;0.027	B;B	0.18561	0.022;0.015	T	0.18335	-1.0340	10	0.54805	T	0.06	-28.445	6.4166	0.21719	0.0:0.1084:0.0:0.8916	.	709;722	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	L	709;372;722	ENSP00000362411:Q709L;ENSP00000362409:Q722L	ENSP00000362409:Q722L	Q	-	2	0	FAM129B	129309021	0.000000	0.05858	1.000000	0.80357	0.882000	0.50991	0.111000	0.15458	1.813000	0.52934	0.459000	0.35465	CAG	FAM129B	-	NULL	ENSG00000136830		0.677	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129B	HGNC	protein_coding	OTTHUMT00000054196.1		0	12	0	T	NM_022833		130269200	-1			no_errors	ENST00000373312	ensembl	human	known	74_37	missense	40.00	3	2	SNP	1.000	A	A	130269200	T	A	130269200	3	1	184	1	0	0	0	0	1	0	0	0	5456	1580	55	5	79	5	FAM129B	9	130269200	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	4125	130269200	10944231	237	45914											
URM1	81605	genome.wustl.edu	37	chr9	131133692	131133692	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtcagtggaggtggagttCgggtgagtcacagagctggg	7	10	19	5	1	2	2	2	1	0	1	3	4	2	4	0	5	1	2	0	5	0	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:131133692C>T	ENST00000372853.4	+	1	95	c.33C>T	c.(31-33)ttC>ttT	p.F11F	URM1_ENST00000452446.1_Silent_p.F11F|URM1_ENST00000372850.1_Silent_p.F11F|URM1_ENST00000372847.1_Silent_p.F11F	NM_001265582.1|NM_030914.3	NP_001252511.1|NP_112176.1			ubiquitin related modifier 1											cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						AGGTGGAGTTCGGGTGAGTCA	0.627																																																	0													47	49	49					9																	131133692		2203	4300	6503	SO:0001819	synonymous_variant	0			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	ENST00000372853.4:c.33C>T	9.37:g.131133692C>T				Silent	SNP	pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b	p.F11	ENST00000372853.4	37	c.33	CCDS6900.1	9																																																																																			URM1	-	pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b	ENSG00000167118		0.627	URM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URM1	HGNC	protein_coding	OTTHUMT00000054422.1	-	0	57	0	C	NM_030914		131133692	1	tier1	-	no_errors	ENST00000452446	ensembl	human	known	74_37	silent	11.84	67	9	SNP	1.000	T	T	131133692	C	T	131133692	2	4	184	1	0	0	0	0	0	0	0	1	17076	883	31	1		1	URM1	9	131133692	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	864492	131133692	10079739	238	45915											
SPTAN1	6709	genome.wustl.edu	37	chr9	131371527	131371527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgaaaaattgcaaacagcGagtgatgagtcgtacaagga	17	7	12	5	2	0	3	0	3	0	0	1	5	0	4	0	1	4	2	0	1	5	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:131371527G>A	ENST00000372731.4	+	36	4832	c.4722G>A	c.(4720-4722)gcG>gcA	p.A1574A	SPTAN1_ENST00000372739.3_Silent_p.A1574A|SPTAN1_ENST00000358161.5_Silent_p.A1574A	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1574					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						TGCAAACAGCGAGTGATGAGT	0.438																																					NSCLC(120;833 1744 2558 35612 37579)												0													102	91	95					9																	131371527		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4722G>A	9.37:g.131371527G>A			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.A1574	ENST00000372731.4	37	c.4722	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.438	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0	113	0	G	NM_003127		131371527	1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	silent	22.69	92	27	SNP	0.084	A	A	131371527	G	A	131371527	2	1	184	1	0	0	0	0	0	0	0	1	15164	1045	37	1		1	SPTAN1	9	131371527	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	237835	131371527	9841904	239	45916											
PMPCA	23203	genome.wustl.edu	37	chr9	139310748	139310748	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggttctcttgcagatgaaGaagtcgagatgacgcggatg	10	10	15	6	3	1	5	0	2	1	3	3	7	1	6	0	2	1	2	0	2	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:139310748G>C	ENST00000371717.3	+	6	547	c.538G>C	c.(538-540)Gaa>Caa	p.E180Q	PMPCA_ENST00000371720.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.E49Q|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	180					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGCAGATGAAGAAGTCGAGAT	0.562																																																	0													100	91	94					9																	139310748		2203	4300	6503	SO:0001583	missense	0			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.538G>C	9.37:g.139310748G>C	ENSP00000360782:p.Glu180Gln		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.E180Q	ENST00000371717.3	37	c.538	CCDS35180.1	9	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736154	0.89482	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.45668	2.08;0.89	5.34	5.34	0.76211	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	0.68760	0.3036	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;1.0	D;D;D;D	0.81914	0.968;0.992;0.995;0.995	T	0.73069	-0.4099	10	0.72032	D	0.01	.	18.4007	0.90515	0.0:0.0:1.0:0.0	.	49;180;180;180	B4DKL3;B4DRK5;Q5SXM9;Q10713	.;.;.;MPPA_HUMAN	Q	180;49	ENSP00000360782:E180Q;ENSP00000416702:E49Q	ENSP00000360782:E180Q	E	+	1	0	PMPCA	138430569	1.000000	0.71417	0.067000	0.19924	0.012000	0.07955	9.563000	0.98148	2.647000	0.89833	0.655000	0.94253	GAA	PMPCA	-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	ENSG00000165688		0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	-	0	9	0	G	NM_015160		139310748	1	tier1	-	no_errors	ENST00000371717	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.996	C	C	139310748	G	C	139310748	3	2	184	1	0	0	0	0	1	0	0	0	12179	943	33	5	560	5	PMPCA	9	139310748	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	7939221	139310748	1902683	240	45917											
ANAPC2	29882	genome.wustl.edu	37	chr9	140082363	140082363	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcaaaaggcactggggctCatccgcagagttctcgcatt	10	9	11	11	2	2	1	1	0	1	1	4	1	3	1	1	3	1	6	1	3	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:140082363C>G	ENST00000323927.2	-	2	314	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	104					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)		CACTGGGGCTCATCCGCAGAG	0.582																																																	0													86	90	88					9																	140082363		2203	4300	6503	SO:0001583	missense	0			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.310G>C	9.37:g.140082363C>G	ENSP00000314004:p.Glu104Gln		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.E104Q	ENST00000323927.2	37	c.310	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736326	0.30774	.	.	ENSG00000176248	ENST00000323927	T	0.76316	-1.01	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.71316	0.3325	L	0.46157	1.445	0.80722	D	1	P	0.44090	0.826	B	0.39152	0.292	T	0.71331	-0.4625	10	0.29301	T	0.29	-22.8123	15.9702	0.80008	0.0:1.0:0.0:0.0	.	104	Q9UJX6	ANC2_HUMAN	Q	104	ENSP00000314004:E104Q	ENSP00000314004:E104Q	E	-	1	0	ANAPC2	139202184	1.000000	0.71417	0.795000	0.32087	0.524000	0.34500	6.484000	0.73621	2.365000	0.80145	0.561000	0.74099	GAG	ANAPC2	-	NULL	ENSG00000176248		0.582	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	-	0	17	0	C	NM_013366		140082363	-1	tier1	-	no_errors	ENST00000323927	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.998	G	G	140082363	C	G	140082363	3	3	184	1	0	0	0	0	1	0	0	0	603	835	29	5	2206	5	ANAPC2	9	140082363	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	771615	140082363	1131068	241	45918											
NELF	26012	genome.wustl.edu	37	chr9	140344061	140344061	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtaactcaccttgggctgaGagctccaggggtgactcgaa	9	8	14	10	1	1	2	1	2	0	1	3	4	2	2	2	4	2	3	2	4	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr9:140344061G>C	ENST00000371475.3	-	15	1716	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L	NSMF_ENST00000371474.3_Silent_p.L470L|NSMF_ENST00000371472.2_Silent_p.L493L|NSMF_ENST00000392812.4_Silent_p.L472L|NSMF_ENST00000541195.1_Silent_p.L292L|NSMF_ENST00000265663.7_Silent_p.L493L|NSMF_ENST00000371473.3_Silent_p.L465L|NSMF_ENST00000437259.1_Silent_p.L472L|NSMF_ENST00000371482.1_Silent_p.L159L|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000339554.3_Silent_p.L292L	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	495					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										CTTGGGCTGAGAGCTCCAGGG	0.652																																																	0													32	32	32					9																	140344061		2194	4297	6491	SO:0001819	synonymous_variant	0				CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"nasal embryonic LHRH factor"	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.1485C>G	9.37:g.140344061G>C			Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Silent	SNP	superfamily_P-loop_NTPase	p.L495	ENST00000371475.3	37	c.1485	CCDS48069.1	9																																																																																			NSMF	-	NULL	ENSG00000165802		0.652	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NSMF	HGNC	protein_coding		-	0	77	0	G	NM_015537		140344061	-1	tier1	-	no_errors	ENST00000371475	ensembl	human	known	74_37	silent	28.57	50	20	SNP	0.999	C	C	140344061	G	C	140344061	2	2	184	1	0	0	0	0	0	0	0	1	10371	929	33	5		5	NELF	9	140344061	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	261698	140344061	869370	242	45919											
ARID5B	84159	genome.wustl.edu	37	chr10	63852198	63852198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggaagatggaaggcatGgtccacccaatcctgcaccg	11	7	11	12	1	1	1	1	0	0	1	3	3	3	3	4	4	1	2	4	4	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:63852198G>C	ENST00000279873.7	+	10	3386	c.2976G>C	c.(2974-2976)atG>atC	p.M992I	ARID5B_ENST00000309334.5_Missense_Mutation_p.M749I	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	992					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)					TGGAAGGCATGGTCCACCCAA	0.532																																																	0													71	78	76					10																	63852198		2203	4300	6503	SO:0001583	missense	0			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.2976G>C	10.37:g.63852198G>C	ENSP00000279873:p.Met992Ile		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.M992I	ENST00000279873.7	37	c.2976	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315653	0.40996	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.46451	0.88;0.87	5.72	5.72	0.89469	.	0.467546	0.27631	N	0.018508	T	0.40473	0.1118	L	0.54323	1.7	0.45806	D	0.99868	B	0.26318	0.146	B	0.24974	0.057	T	0.29701	-1.0003	10	0.62326	D	0.03	-21.9554	13.1125	0.59281	0.0731:0.0:0.9269:0.0	.	992	Q14865	ARI5B_HUMAN	I	992;749	ENSP00000279873:M992I;ENSP00000308862:M749I	ENSP00000279873:M992I	M	+	3	0	ARID5B	63522204	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.161000	0.71868	2.702000	0.92279	0.655000	0.94253	ATG	ARID5B	-	NULL	ENSG00000150347		0.532	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	-	0	31	0	G	XM_084482		63852198	1	tier1	-	no_errors	ENST00000279873	ensembl	human	known	74_37	missense	16.67	25	5	SNP	1.000	C	C	63852198	G	C	63852198	3	2	184	1	0	0	0	0	1	0	0	0	922	1348	47	5	3014	5	ARID5B	10	63852198	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09		63852198	71682549	243	45920											
DDX21	9188	genome.wustl.edu	37	chr10	70734442	70734442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtagggaattaagttcaaacGaataggtgttccttctgcaa	13	12	10	6	1	2	0	1	0	1	0	3	2	3	1	1	2	2	4	1	2	7	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:70734442G>C	ENST00000354185.4	+	11	1783	c.1685G>C	c.(1684-1686)cGa>cCa	p.R562P		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	562	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						AAGTTCAAACGAATAGGTGTT	0.373																																																	0													94	89	91					10																	70734442		2203	4300	6503	SO:0001583	missense	0			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.1685G>C	10.37:g.70734442G>C	ENSP00000346120:p.Arg562Pro		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R562P	ENST00000354185.4	37	c.1685	CCDS31211.1	10	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716729	0.89205	.	.	ENSG00000165732	ENST00000354185	T	0.19105	2.17	5.64	5.64	0.86602	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.42529	1.33	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.03325	-1.1048	10	0.42905	T	0.14	-55.3078	19.7127	0.96102	0.0:0.0:1.0:0.0	.	562	Q9NR30	DDX21_HUMAN	P	562	ENSP00000346120:R562P	ENSP00000346120:R562P	R	+	2	0	DDX21	70404448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.749000	0.91619	2.652000	0.90054	0.655000	0.94253	CGA	DDX21	-	pfscan_Helicase_C	ENSG00000165732		0.373	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	HGNC	protein_coding	OTTHUMT00000048374.1	-	0	65	0	G	NM_004728		70734442	1	tier1	-	no_errors	ENST00000354185	ensembl	human	known	74_37	missense	8.96	61	6	SNP	1.000	C	C	70734442	G	C	70734442	3	2	184	1	0	0	0	0	1	0	0	0	4358	1058	37	5	1727	5	DDX21	10	70734442	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	6882244	70734442	64800305	244	45921											
CDH23	64072	genome.wustl.edu	37	chr10	73464809	73464809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaccgcgagcgcatcGcggagtaccagctgcgggtg	7	5	17	12	6	0	0	0	0	0	0	1	3	0	2	2	3	5	4	2	3	1	1	rs200196800		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:73464809G>A	ENST00000224721.6	+	24	2895	c.2890G>A	c.(2890-2892)Gcg>Acg	p.A964T	CDH23_ENST00000299366.7_Missense_Mutation_p.A1004T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	959	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> Q. {ECO:0000269|PubMed:24767429}.		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						CGAGCGCATCGCGGAGTACCA	0.672																																																	0								G	THR/ALA,THR/ALA,THR/ALA	1,4147		0,1,2073	37	41	40		2875,2875,2875	5.5	1	10		40	0,8364		0,0,4182	yes	missense,missense,missense	CDH23	NM_022124.5,NM_001171931.1,NM_001171930.1	58,58,58	0,1,6255	AA,AG,GG		0.0,0.0241,0.0080	benign,benign,benign	959/3355,959/1062,959/1382	73464809	1,12511	2074	4182	6256	SO:0001583	missense	0			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.2890G>A	10.37:g.73464809G>A	ENSP00000224721:p.Ala964Thr		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A964T	ENST00000224721.6	37	c.2890		10	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284619	0.40394	2.41E-4	0.0	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.398971	0.23918	N	0.043275	T	0.42562	0.1208	N	0.25890	0.77	0.80722	D	1	B;B;B	0.18741	0.006;0.03;0.001	B;B;B	0.13407	0.009;0.008;0.009	T	0.27640	-1.0068	9	0.27082	T	0.32	.	10.8917	0.47000	0.0723:0.1321:0.7956:0.0	.	959;962;959	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	T	964;959;959;962;962;476	.	ENSP00000224721:A964T	A	+	1	0	CDH23	73134815	0.267000	0.24122	1.000000	0.80357	0.985000	0.73830	1.412000	0.34714	2.575000	0.86900	0.561000	0.74099	GCG	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.672	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4		0	20	0	G	NM_052836		73464809	1			no_errors	ENST00000224721	ensembl	human	putative	74_37	missense	16.67	15	3	SNP	0.999	A	A	73464809	G	A	73464809	3	1	184	1	0	0	0	0	1	0	0	0	3115	1087	38	1	3196	1	CDH23	10	73464809	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2730367	73464809	62069938	245	45922											
DLG5	9231	genome.wustl.edu	37	chr10	79569442	79569442	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctgggactttttgatgaAgacaacgcgtggctccaggg	9	9	14	9	2	0	3	0	2	0	1	1	4	1	4	1	3	2	2	1	3	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:79569442A>T	ENST00000372391.2	-	24	4515	c.4510T>A	c.(4510-4512)Ttc>Atc	p.F1504I	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.F1164I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1504	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TTTTTGATGAAGACAACGCGT	0.527																																																	0													192	192	192					10																	79569442		2203	4300	6503	SO:0001583	missense	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4510T>A	10.37:g.79569442A>T	ENSP00000361467:p.Phe1504Ile		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.F1504I	ENST00000372391.2	37	c.4510	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	A	10.47	1.360027	0.24598	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.39406	1.08;1.08;1.08	5.85	0.695	0.18070	PDZ/DHR/GLGF (2);	0.000000	0.40728	N	0.001021	T	0.12987	0.0315	N	0.02315	-0.6	0.25190	N	0.990132	B;B	0.19073	0.004;0.033	B;B	0.19391	0.009;0.025	T	0.11446	-1.0587	10	0.22706	T	0.39	.	1.5954	0.02663	0.2955:0.2027:0.0792:0.4226	.	1504;1164	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	I	1504;465;1164	ENSP00000361467:F1504I;ENSP00000394797:F465I;ENSP00000361464:F1164I	ENSP00000361464:F1164I	F	-	1	0	DLG5	79239448	0.999000	0.42202	0.604000	0.28916	0.596000	0.36781	1.461000	0.35255	0.468000	0.27243	0.533000	0.62120	TTC	DLG5	-	superfamily_PDZ,pfscan_PDZ	ENSG00000151208		0.527	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	-	0	59	0	A			79569442	-1	tier1	-	no_errors	ENST00000372391	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.928	T	T	79569442	A	T	79569442	3	4	184	1	0	0	0	0	1	0	0	0	4572	72	3	5	1285	5	DLG5	10	79569442	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	6104633	79569442	55965305	246	45923											
ZCCHC24	219654	genome.wustl.edu	37	chr10	81154181	81154181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggtatggagtcaggccctCgcctttggggcgtgcctaca	5	10	14	12	2	1	0	1	0	0	0	2	1	1	1	3	5	2	1	3	5	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:81154181C>G	ENST00000372336.3	-	3	649	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.R95P|RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	155							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GTCAGGCCCTCGCCTTTGGGG	0.587																																																	0													98	83	88					10																	81154181		2203	4300	6503	SO:0001583	missense	0			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.463G>C	10.37:g.81154181C>G	ENSP00000361411:p.Glu155Gln		Q5U5T9|Q8TAG0	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.E155Q	ENST00000372336.3	37	c.463	CCDS7359.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.267563|3.267563	0.59540|0.59540	.|.	.|.	ENSG00000165424|ENSG00000165424	ENST00000372336|ENST00000372333	T|.	0.77098|.	-1.07|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Zinc finger, CCHC retroviral-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77877|0.77877	0.4196|0.4196	M|M	0.63428|0.63428	1.95|1.95	0.35451|0.35451	D|D	0.795677|0.795677	D|D	0.71674|0.89917	0.998|1.0	D|D	0.73380|0.72982	0.98|0.979	D|D	0.83807|0.83807	0.0239|0.0239	10|8	0.72032|0.87932	D|D	0.01|0	-0.8518|-0.8518	18.9773|18.9773	0.92742|0.92742	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	155|95	Q8N2G6|Q5W133	ZCH24_HUMAN|.	Q|P	155|95	ENSP00000361411:E155Q|.	ENSP00000361411:E155Q|ENSP00000361408:R95P	E|R	-|-	1|2	0|0	ZCCHC24|ZCCHC24	80824187|80824187	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	7.474000|7.474000	0.81024|0.81024	2.479000|2.479000	0.83701|0.83701	0.514000|0.514000	0.50259|0.50259	GAG|CGA	ZCCHC24	-	superfamily_Znf_CCHC	ENSG00000165424		0.587	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC24	HGNC	protein_coding	OTTHUMT00000048947.1	-	0	26	0	C	NM_153367		81154181	-1	tier1	-	no_errors	ENST00000372336	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	G	G	81154181	C	G	81154181	3	3	184	1	0	0	0	0	1	0	0	0	17636	893	31	5	270	5	ZCCHC24	10	81154181	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1584739	81154181	54380566	247	45924											
BTAF1	9044	genome.wustl.edu	37	chr10	93768818	93768818	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcccaggaatatgcaagatCaaaattagcagaatgtatgc	16	8	10	7	0	1	2	1	0	0	2	1	3	1	3	1	2	3	3	1	2	8	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:93768818C>G	ENST00000265990.6	+	28	4264	c.3956C>G	c.(3955-3957)tCa>tGa	p.S1319*	BTAF1_ENST00000544642.1_Nonsense_Mutation_p.S147*	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1319	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATGCAAGATCAAAATTAGCA	0.368																																																	0													114	102	106					10																	93768818		2203	4300	6503	SO:0001587	stop_gained	0			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3956C>G	10.37:g.93768818C>G	ENSP00000265990:p.Ser1319*		B4E0W6|O43578	Nonsense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1319*	ENST00000265990.6	37	c.3956	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	C	38	6.839818	0.97877	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	.	.	.	5.23	5.23	0.72850	.	0.189166	0.42682	D	0.000664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-13.569	17.3587	0.87344	0.0:1.0:0.0:0.0	.	.	.	.	X	1319;147;169	.	ENSP00000265990:S1319X	S	+	2	0	BTAF1	93758798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.749000	0.62155	2.610000	0.88304	0.650000	0.86243	TCA	BTAF1	-	pfam_SNF2_N,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000095564		0.368	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	-	0	90	0	C	NM_003972		93768818	1	tier1	-	no_errors	ENST00000265990	ensembl	human	known	74_37	nonsense	11.30	102	13	SNP	1.000	G	G	93768818	C	G	93768818	4	3	184	1	0	0	0	0	0	1	0	0	1540	838	29	5	4066	5	BTAF1	10	93768818	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	12614637	93768818	41765929	248	45925											
KIF11	3832	genome.wustl.edu	37	chr10	94408026	94408026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tcactgagaaatcagatggaCgtaaggcagctcatgagaaa	16	7	11	7	1	3	3	3	2	0	3	3	6	3	4	0	2	1	3	0	2	3	1	rs149407589		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:94408026C>T	ENST00000260731.3	+	19	2695	c.2605C>T	c.(2605-2607)Cgt>Tgt	p.R869C		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	869					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						ATCAGATGGACGTAAGGCAGC	0.318																																					Colon(47;212 1003 2764 4062 8431)												0								C	CYS/ARG	0,4406		0,0,2203	78	72	74		2605	1.8	0	10	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KIF11	NM_004523.3	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	869/1057	94408026	2,13004	2203	4300	6503	SO:0001583	missense	0			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.2605C>T	10.37:g.94408026C>T	ENSP00000260731:p.Arg869Cys		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R869C	ENST00000260731.3	37	c.2605	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	C	2.111	-0.403754	0.04832	0.0	2.33E-4	ENSG00000138160	ENST00000260731	T	0.73363	-0.74	5.67	1.84	0.25277	.	0.671285	0.15377	N	0.265549	T	0.48150	0.1484	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35301	-0.9794	10	0.38643	T	0.18	.	7.6854	0.28538	0.0:0.67:0.0:0.33	.	869	P52732	KIF11_HUMAN	C	869	ENSP00000260731:R869C	ENSP00000260731:R869C	R	+	1	0	KIF11	94398006	0.089000	0.21612	0.015000	0.15790	0.000000	0.00434	0.476000	0.22180	0.086000	0.17137	-0.824000	0.03097	CGT	KIF11	-	NULL	ENSG00000138160		0.318	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	-	0	90	0	C	NM_004523		94408026	1	tier1	rs149407589	no_errors	ENST00000260731	ensembl	human	known	74_37	missense	8.46	119	11	SNP	0.024	T	T	94408026	C	T	94408026	3	4	184	1	0	0	0	0	1	0	0	0	8299	536	19	1	2679	1	KIF11	10	94408026	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	639208	94408026	41126721	249	45926											
CYP2C9	1559	genome.wustl.edu	37	chr10	96748714	96748714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggttgacccaaagaaccttGacaccactccagttgtcaat	12	10	7	12	0	1	3	1	2	0	1	2	3	2	3	4	1	1	2	4	1	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:96748714G>C	ENST00000260682.6	+	9	1414	c.1402G>C	c.(1402-1404)Gac>Cac	p.D468H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	468					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)	AAAGAACCTTGACACCACTCC	0.502																																					Ovarian(54;1266 1406 16072 35076)												0													165	154	158					10																	96748714		2203	4300	6503	SO:0001583	missense	0			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.1402G>C	10.37:g.96748714G>C	ENSP00000260682:p.Asp468His		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.D468H	ENST00000260682.6	37	c.1402	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943844	0.34283	.	.	ENSG00000138109	ENST00000260682	T	0.70399	-0.48	3.42	1.49	0.22878	.	0.152498	0.42294	U	0.000737	T	0.78679	0.4321	M	0.85542	2.76	0.09310	N	0.999991	D;D	0.69078	0.997;0.997	P;P	0.58721	0.844;0.844	T	0.68918	-0.5282	10	0.87932	D	0	.	5.6452	0.17586	0.3726:0.0:0.6274:0.0	.	468;468	Q5VX92;P11712	.;CP2C9_HUMAN	H	468	ENSP00000260682:D468H	ENSP00000260682:D468H	D	+	1	0	CYP2C9	96738704	0.761000	0.28439	0.003000	0.11579	0.091000	0.18340	1.009000	0.29886	0.261000	0.21753	0.453000	0.30009	GAC	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000138109		0.502	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	-	0	67	0	G	NM_000771		96748714	1	tier1	-	no_errors	ENST00000260682	ensembl	human	known	74_37	missense	9.09	90	9	SNP	0.117	C	C	96748714	G	C	96748714	3	2	184	1	0	0	0	0	1	0	0	0	4177	1290	45	5	1436	5	CYP2C9	10	96748714	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2340688	96748714	38786033	250	45927											
NDUFB8	4714	genome.wustl.edu	37	chr10	102283650	102283650	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggagggatcaccgcctcgttCcaggtacagattattgtaag	10	10	12	9	2	1	1	1	0	0	1	3	3	2	3	3	3	1	3	3	3	3	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:102283650C>G	ENST00000299166.4	-	5	517	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q	NDUFB8_ENST00000531258.1_Intron|NDUFB8_ENST00000557395.1_Intron|NDUFB8_ENST00000370322.1_Missense_Mutation_p.E138Q|SEC31B_ENST00000535773.1_Intron	NM_005004.2	NP_004995.1	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	169					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)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)		CCGCCTCGTTCCAGGTACAGA	0.493																																																	0													89	82	84					10																	102283650		2203	4300	6503	SO:0001583	missense	0			AF044958	CCDS7497.1, CCDS65916.1, CCDS65917.1	10q24.31	2011-07-04	2002-08-29		ENSG00000166136	ENSG00000166136		"Mitochondrial respiratory chain complex / Complex I"	7703	protein-coding gene	gene with protein product	"complex I ASHI subunit"	602140	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)"			9763676	Standard	NM_001284368		Approved	ASHI, CI-ASHI	uc001kri.1	O95169	OTTHUMG00000019346	ENST00000299166.4:c.505G>C	10.37:g.102283650C>G	ENSP00000299166:p.Glu169Gln		A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3	Missense_Mutation	SNP	pfam_NDUFB8,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8	p.E169Q	ENST00000299166.4	37	c.505	CCDS7497.1	10	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347755	0.82022	.	.	ENSG00000166136	ENST00000299166;ENST00000370322	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.82986	0.5156	M	0.87328	2.875	0.80722	D	1	D	0.63046	0.992	P	0.62382	0.901	D	0.86026	0.1510	9	0.59425	D	0.04	-14.4502	18.007	0.89212	0.0:1.0:0.0:0.0	.	169	O95169	NDUB8_HUMAN	Q	169;138	.	ENSP00000299166:E169Q	E	-	1	0	NDUFB8	102273640	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.195000	0.77798	2.351000	0.79841	0.455000	0.32223	GAA	NDUFB8	-	pfam_NDUFB8,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8	ENSG00000166136		0.493	NDUFB8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB8	HGNC	protein_coding	OTTHUMT00000051225.1	-	0	41	0	C	NM_005004		102283650	-1	tier1	-	no_errors	ENST00000299166	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	G	G	102283650	C	G	102283650	3	3	184	1	0	0	0	0	1	0	0	0	10326	864	30	5	59	5	NDUFB8	10	102283650	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	5534936	102283650	33251097	251	45928											
FAM178A	55719	genome.wustl.edu	37	chr10	102703859	102703859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caattttttcaacacttcctGaaaccaacattttaaatgtg	14	15	3	9	0	1	1	1	1	0	0	2	1	2	1	2	0	3	0	2	0	6	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:102703859G>C	ENST00000238961.4	+	12	3273	c.2731G>C	c.(2731-2733)Gaa>Caa	p.E911Q	FAM178A_ENST00000481654.1_3'UTR|FAM178A_ENST00000370269.3_Missense_Mutation_p.E911Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	911						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AACACTTCCTGAAACCAACAT	0.338																																																	0													68	68	68					10																	102703859		2203	4300	6503	SO:0001583	missense	0			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2731G>C	10.37:g.102703859G>C	ENSP00000238961:p.Glu911Gln		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	NULL	p.E911Q	ENST00000238961.4	37	c.2731	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993686	0.74703	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.36699	1.25;1.24	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	L	0.59436	1.845	0.42632	D	0.99338	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.54275	-0.8318	10	0.48119	T	0.1	-19.0298	14.6154	0.68544	0.0:0.0:1.0:0.0	.	911;911	Q8IX21;B1AL17	F178A_HUMAN;.	Q	911	ENSP00000238961:E911Q;ENSP00000359292:E911Q	ENSP00000238961:E911Q	E	+	1	0	FAM178A	102693849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.239000	0.65371	2.515000	0.84797	0.585000	0.79938	GAA	FAM178A	-	NULL	ENSG00000119906		0.338	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	-	0	84	0	G			102703859	1	tier1	-	no_errors	ENST00000370269	ensembl	human	known	74_37	missense	13.54	83	13	SNP	1.000	C	C	102703859	G	C	102703859	3	2	184	1	0	0	0	0	1	0	0	0	5522	1291	45	5	2777	5	FAM178A	10	102703859	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	420209	102703859	32830888	252	45929											
GFRA1	2674	genome.wustl.edu	37	chr10	117825136	117825136	+	Splice_Site	SNP	G	G	A	0	0	1	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	cattggatttcagcttctgtGcctggagagggacaagaaaa	12	10	12	7	0	2	2	1	0	1	2	2	5	2	4	1	3	2	1	1	3	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:117825136G>A	ENST00000355422.6	-	10	1749	c.1199C>T	c.(1198-1200)gCa>gTa	p.A400V	GFRA1_ENST00000544592.1_Splice_Site_p.A279V|GFRA1_ENST00000439649.3_Splice_Site_p.A395V|GFRA1_ENST00000369236.1_Splice_Site_p.A395V	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	400					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CAGCTTCTGTGCCTGGAGAGG	0.398																																					Ovarian(128;329 1725 45498 46808 50759)												0													89	80	83					10																	117825136		2203	4300	6503	SO:0001630	splice_region_variant	0			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.1198-1C>T	10.37:g.117825136G>A			A8KA21|O15507|O43912	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.A400V	ENST00000355422.6	37	c.1199	CCDS44481.1	10	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016362	0.54468	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.49432	1.4;0.78	6.16	6.16	0.99307	.	0.049349	0.85682	D	0.000000	T	0.50633	0.1627	M	0.65498	2.005	0.80722	D	1	B;B	0.24043	0.058;0.096	B;B	0.22152	0.017;0.038	T	0.42666	-0.9438	10	0.49607	T	0.09	-11.9121	18.0158	0.89239	0.0:0.0:1.0:0.0	.	400;395	P56159;P56159-2	GFRA1_HUMAN;.	V	400;395;395;279;395	ENSP00000358239:A395V;ENSP00000442179:A279V	ENSP00000347591:A395V	A	-	2	0	GFRA1	117815126	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	4.090000	0.57693	2.937000	0.99478	0.650000	0.86243	GCA	GFRA1	-	pirsf_Glial_neurotroph_fac_rcpt_a1/2	ENSG00000151892		0.398	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	-	0	23	0	G	NM_145793	Missense_Mutation	117825136	-1	tier1	-	no_errors	ENST00000355422	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	A	A	117825136	G	A	117825136	5	1	184	1	0	0	0	0	0	0	1	0	6373	1333	46	3	206	3	GFRA1	10	117825136	Splice_Site	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	15121277	117825136	17709611	253	45930											
PNLIPRP2	5408	genome.wustl.edu	37	chr10	118383542	118383542	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcgacctgtaaaattacttCcctggtcccccgaggacatt	10	10	8	13	2	0	0	0	0	0	0	2	3	2	1	4	2	2	1	4	2	3	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:118383542C>T	ENST00000298771.7	+	0	161				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AAAATTACTTCCCTGGTCCCC	0.488																																																	0													112	109	110					10																	118383542		1893	4127	6020			0			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118383542C>T			A8K627|Q6IB55	Missense_Mutation	SNP	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase,pfscan_PLAT/LH2_dom	p.P46S	ENST00000298771.7	37	c.136		10	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775923	0.90195	.	.	ENSG00000165862	ENST00000537242	D	0.90444	-2.67	5.65	5.65	0.86999	Lipase, N-terminal (1);	0.000000	0.56097	D	0.000021	D	0.95465	0.8527	.	.	.	0.34787	D	0.735286	D	0.60575	0.988	D	0.71184	0.972	D	0.98245	1.0490	9	0.87932	D	0	.	18.4917	0.90851	0.0:1.0:0.0:0.0	.	46	P54317	LIPR2_HUMAN	S	46	ENSP00000446346:P46S	ENSP00000446346:P46S	P	+	1	0	PNLIPRP2	118373532	1.000000	0.71417	0.685000	0.30070	0.276000	0.26787	5.875000	0.69660	2.660000	0.90430	0.555000	0.69702	CCC	PNLIPRP2	-	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase_panc	ENSG00000165862		0.488	PNLIPRP2-004	KNOWN	basic	processed_transcript	PNLIPRP2	HGNC	polymorphic_pseudogene	OTTHUMT00000050546.6	-	0	79	0	C	NM_005396		118383542	1	tier1	-	no_errors	ENST00000537242	ensembl	human	known	74_37	missense	12.00	66	9	SNP	0.997	T	T	118383542	C	T	118383542	1	4	184	0	1	0	0	0	0	0	0	0	12190	854	30	3		3	PNLIPRP2	10	118383542	RNA	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	558406	118383542	17151205	254	45931											
C10orf88	80007	genome.wustl.edu	37	chr10	124697221	124697221	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcttaaaataatacttacCcaacaccaagaatgcgttca	16	11	4	10	1	2	1	1	0	1	1	2	1	2	1	2	0	4	1	2	0	8	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:124697221C>G	ENST00000481909.1	-	5	1327	c.1103G>C	c.(1102-1104)gGa>gCa	p.G368A	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	368										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TAATACTTACCCAACACCAAG	0.378																																																	0													81	80	80					10																	124697221		2203	4299	6502	SO:0001630	splice_region_variant	0			AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1103+1G>C	10.37:g.124697221C>G			Q0P6C6|Q8N597	Missense_Mutation	SNP	NULL	p.G368A	ENST00000481909.1	37	c.1103	CCDS7632.1	10	.	.	.	.	.	.	.	.	.	.	C	9.905	1.207910	0.22205	.	.	ENSG00000119965	ENST00000481909	.	.	.	3.79	-2.31	0.06765	.	0.895717	0.09100	N	0.848605	T	0.24353	0.0590	N	0.11427	0.14	0.22240	N	0.999263	B	0.09022	0.002	B	0.11329	0.006	T	0.21895	-1.0232	8	.	.	.	.	16.3542	0.83228	0.0:0.8036:0.1964:0.0	.	368	Q9H8K7	CJ088_HUMAN	A	368	.	.	G	-	2	0	C10orf88	124687211	0.008000	0.16893	0.244000	0.24202	0.714000	0.41099	-0.118000	0.10692	-0.134000	0.11516	0.467000	0.42956	GGA	C10orf88	-	NULL	ENSG00000119965		0.378	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf88	HGNC	protein_coding	OTTHUMT00000050807.1	-	0	35	0	C	NM_024942	Missense_Mutation	124697221	-1	tier1	-	no_errors	ENST00000481909	ensembl	human	known	74_37	missense	17.39	38	8	SNP	0.246	G	G	124697221	C	G	124697221	5	3	184	1	0	0	0	0	0	0	1	0	1627	637	22	5	242	5	C10orf88	10	124697221	Splice_Site	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	6313679	124697221	10837526	255	45932											
MTG1	92170	genome.wustl.edu	37	chr10	135209721	135209721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacccttgggcttaagcctCacttgctggtcctcaacaag	10	10	8	13	0	2	0	2	0	0	0	3	0	3	0	3	2	4	2	3	2	4	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr10:135209721C>G	ENST00000317502.6	+	3	282	c.232C>G	c.(232-234)Cac>Gac	p.H78D	RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.H83D|MTG1_ENST00000477902.2_Missense_Mutation_p.H37D	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	78	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)		GCTTAAGCCTCACTTGCTGGT	0.502																																																	0													192	194	193					10																	135209721		2203	4300	6503	SO:0001583	missense	0				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	ENST00000317502.6:c.232C>G	10.37:g.135209721C>G	ENSP00000323047:p.His78Asp		Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF	p.H78D	ENST00000317502.6	37	c.232	CCDS31320.1	10	.	.	.	.	.	.	.	.	.	.	c	24.0	4.478384	0.84747	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508;ENST00000537620	T;T;T	0.14022	2.54;2.54;2.54	5.4	5.4	0.78164	.	2.297760	0.02128	N	0.056208	T	0.52837	0.1759	M	0.90483	3.12	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.15954	-1.0419	10	0.66056	D	0.02	-17.7878	16.6591	0.85236	0.0:1.0:0.0:0.0	.	78	Q9BT17	MTG1_HUMAN	D	83;78;78;37	ENSP00000436767:H83D;ENSP00000323047:H78D;ENSP00000393480:H78D	ENSP00000323047:H78D	H	+	1	0	AL360181.1;MTG1	135059711	1.000000	0.71417	0.818000	0.32626	0.993000	0.82548	6.217000	0.72218	2.535000	0.85469	0.478000	0.44815	CAC	MTG1	-	superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF	ENSG00000148824		0.502	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	MTG1	HGNC	protein_coding	OTTHUMT00000051166.1	-	0	59	0	C	NM_138384		135209721	1	tier1	-	no_errors	ENST00000317502	ensembl	human	known	74_37	missense	17.33	61	13	SNP	1.000	G	G	135209721	C	G	135209721	3	3	184	1	0	0	0	0	1	0	0	0	9964	826	29	5	242	5	MTG1	10	135209721	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	10512500	135209721	325026	256	45933											
OR51S1	119692	genome.wustl.edu	37	chr11	4870196	4870196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcatcagggcagtgacCaatccaatatcagacacact	13	7	10	11	0	2	2	2	1	0	1	3	2	3	2	2	2	0	2	2	2	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:4870196C>G	ENST00000322101.2	-	1	318	c.243G>C	c.(241-243)ttG>ttC	p.L81F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L81F(1)		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)		GGGCAGTGACCAATCCAATAT	0.552																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											123	101	108					11																	4870196		2201	4298	6499	SO:0001583	missense	0			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.243G>C	11.37:g.4870196C>G	ENSP00000322754:p.Leu81Phe		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L81F	ENST00000322101.2	37	c.243	CCDS31362.1	11	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947630	0.18356	.	.	ENSG00000176922	ENST00000322101	T	0.02944	4.1	4.85	0.706	0.18133	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33005	N	0.005390	T	0.04318	0.0119	L	0.45698	1.435	0.19300	N	0.99998	P	0.40931	0.733	P	0.46758	0.526	T	0.28427	-1.0044	10	0.87932	D	0	-7.04	5.3435	0.15996	0.0:0.4722:0.27:0.2578	.	81	Q8NGJ8	O51S1_HUMAN	F	81	ENSP00000322754:L81F	ENSP00000322754:L81F	L	-	3	2	OR51S1	4826772	0.000000	0.05858	0.121000	0.21740	0.027000	0.11550	0.161000	0.16481	-0.027000	0.13873	-0.253000	0.11424	TTG	OR51S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000176922		0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1		0	15	0	C	NM_001004758		4870196	-1			no_errors	ENST00000322101	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.055	G	G	4870196	C	G	4870196	3	3	184	1	0	0	0	0	1	0	0	0	11144	593	21	5	731	5	OR51S1	11	4870196	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09		4870196	130136320	257	45934											
SMPD1	6609	genome.wustl.edu	37	chr11	6411941	6411941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ttggatgggcctggtgctggCgctggcgctggcgctggcgc	1	9	20	11	4	0	0	0	0	0	0	0	1	0	1	1	7	1	4	1	7	0	1	rs550365194|rs550067660|rs71467507|rs78250081|rs558809956|rs3838786	byFrequency	TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:6411941C>T	ENST00000342245.4	+	1	281	c.113C>T	c.(112-114)gCg>gTg	p.A38V	SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000356761.2_Missense_Mutation_p.A38V|SMPD1_ENST00000527275.1_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	0			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	pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	p.A38V	ENST00000342245.4	37	c.113	CCDS44531.1	11	.	.	.	.	.	.	.	.	.	.	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	SMPD1	-	pirsf_Sphingomy_PDE	ENSG00000166311		0.711	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1	-	0	16	0	C	NM_000543		6411941	1	tier1	rs78250081	no_errors	ENST00000342245	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.351	T	T	6411941	C	T	6411941	3	4	184	1	0	0	0	0	1	0	0	0	14849	768	27	1	115	1	SMPD1	11	6411941	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1541745	6411941	128594575	258	45935											
TUB	7275	genome.wustl.edu	37	chr11	8122402	8122402	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acactgctagcacgctggcaGaataagaacacggagagtat	15	6	11	9	2	0	3	0	0	0	3	0	4	0	3	0	2	3	5	0	2	5	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:8122402G>C	ENST00000299506.2	+	11	1394	c.1245G>C	c.(1243-1245)caG>caC	p.Q415H	TUB_ENST00000534099.1_Missense_Mutation_p.Q421H|TUB_ENST00000305253.4_Missense_Mutation_p.Q470H	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	415					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)		CACGCTGGCAGAATAAGAACA	0.547																																																	0													143	127	132					11																	8122402		2201	4296	6497	SO:0001583	missense	0			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.1245G>C	11.37:g.8122402G>C	ENSP00000299506:p.Gln415His		D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.Q470H	ENST00000299506.2	37	c.1410	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441887	0.43326	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.96522	-4.04;-4.04;-4.04	5.19	2.23	0.28157	Tubby, C-terminal (3);	0.051046	0.85682	D	0.000000	D	0.93880	0.8042	L	0.53780	1.695	0.80722	D	1	B;B;B	0.20368	0.039;0.019;0.044	B;B;B	0.24541	0.036;0.054;0.032	D	0.90858	0.4736	10	0.59425	D	0.04	-18.093	11.4344	0.50060	0.2107:0.0:0.7893:0.0	.	421;415;470	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	H	421;470;415	ENSP00000434400:Q421H;ENSP00000305426:Q470H;ENSP00000299506:Q415H	ENSP00000299506:Q415H	Q	+	3	2	TUB	8078978	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.459000	0.53021	0.697000	0.31718	0.655000	0.94253	CAG	TUB	-	pfam_Tubby_C,superfamily_Tubby_C-like	ENSG00000166402		0.547	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	-	0	44	0	G	NM_003320		8122402	1	tier1	-	no_errors	ENST00000305253	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	C	C	8122402	G	C	8122402	3	2	184	1	0	0	0	0	1	0	0	0	16791	933	33	5	1498	5	TUB	11	8122402	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1710461	8122402	126884114	259	45936											
SPON1	10418	genome.wustl.edu	37	chr11	14277295	14277295	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagggtgggtccatcactCaagtagccagagttgtcatc	10	9	12	10	0	3	2	3	0	0	2	5	2	4	2	2	2	1	2	2	2	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:14277295C>T	ENST00000310358.7	+	0	1730							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GTCCATCACTCAAGTAGCCAG	0.552																																																	0													74	80	78					11																	14277295		1902	4111	6013			0			AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"spondin 1, (f-spondin) extracellular matrix protein"			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14277295C>T			A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	-	NULL	ENST00000310358.7	37	NULL		11	.	.	.	.	.	.	.	.	.	.	C	42	9.779529	0.99261	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.68	5.68	0.88126	.	0.122741	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	17.2897	0.87152	0.0:1.0:0.0:0.0	.	.	.	.	X	398	.	ENSP00000309297:Q398X	Q	+	1	0	SPON1	14233871	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.502000	0.45398	2.689000	0.91719	0.655000	0.94253	CAA	SPON1	-	-	ENSG00000152268		0.552	SPON1-201	KNOWN	basic	processed_transcript	SPON1	HGNC	processed_transcript		-	0	38	0	C	NM_145584		14277295	1	tier1	-	no_errors	ENST00000310358	ensembl	human	known	74_37	rna	33.96	35	18	SNP	1.000	T	T	14277295	C	T	14277295	1	4	184	0	1	0	0	0	0	0	0	0	15129	827	29	3		3	SPON1	11	14277295	RNA	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	6154893	14277295	120729221	260	45937											
RPS13	6207	genome.wustl.edu	37	chr11	17098993	17098993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tacagtggggacgctgcgtcGatagggtaaagccgactggg	9	7	17	8	4	0	0	0	0	0	0	1	3	0	1	1	4	3	2	1	4	4	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:17098993G>C	ENST00000525634.1	-	2	200	c.55C>G	c.(55-57)Cga>Gga	p.R19G	RPS13_ENST00000526895.1_5'UTR|SNORD14A_ENST00000606526.1_RNA|SNORD14B_ENST00000364533.1_RNA|RPS13_ENST00000228140.2_Missense_Mutation_p.R19G|PIK3C2A_ENST00000531428.1_5'Flank			P62277	RS13_HUMAN	ribosomal protein S13	19					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						ACGCTGCGTCGATAGGGTAAA	0.632																																																	0													47	52	50					11																	17098993		2200	4294	6494	SO:0001583	missense	0			X79239	CCDS7823.1	11p	2011-04-05			ENSG00000110700	ENSG00000110700		"S ribosomal proteins"	10386	protein-coding gene	gene with protein product	"40S ribosomal protein S13"	180476				8332508, 9582194	Standard	NM_001017		Approved	S13	uc001mmp.3	P62277	OTTHUMG00000165988	ENST00000525634.1:c.55C>G	11.37:g.17098993G>C	ENSP00000435777:p.Arg19Gly		B2R549|P19116|Q02546|Q29200|Q498Y0	Missense_Mutation	SNP	pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd	p.R19G	ENST00000525634.1	37	c.55	CCDS7823.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447511	0.84101	.	.	ENSG00000110700	ENST00000228140;ENST00000525634;ENST00000533969	T	0.26660	1.72	6.07	6.07	0.98685	Ribosomal protein S13/S15, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.89534	3.04	0.80722	D	1	B	0.15719	0.014	B	0.32211	0.142	T	0.45381	-0.9265	10	0.72032	D	0.01	-36.9433	14.175	0.65534	0.0:0.0:0.8507:0.1493	.	19	P62277	RS13_HUMAN	G	19	ENSP00000432096:R19G	ENSP00000228140:R19G	R	-	1	2	RPS13	17055569	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.097000	0.41748	2.884000	0.98904	0.655000	0.94253	CGA	RPS13	-	pfam_Ribosomal_S13/S15_N	ENSG00000110700		0.632	RPS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS13	HGNC	protein_coding	OTTHUMT00000387320.2	-	0	40	0	G	NM_001017		17098993	-1	tier1	-	no_errors	ENST00000525634	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	C	C	17098993	G	C	17098993	3	2	184	1	0	0	0	0	1	0	0	0	13668	1066	37	5	420	5	RPS13	11	17098993	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2821698	17098993	117907523	261	45938											
GAS2	2620	genome.wustl.edu	37	chr11	22747881	22747881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgcaaaaccagtgcaccctCgggctccttttttgccagag	9	10	9	13	1	0	1	0	0	0	1	2	1	1	1	4	1	4	3	4	1	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:22747881C>G	ENST00000454584.2	+	4	616	c.311C>G	c.(310-312)tCg>tGg	p.S104W	GAS2_ENST00000433790.1_Missense_Mutation_p.S104W|GAS2_ENST00000278187.3_Missense_Mutation_p.S104W	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	104	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						AGTGCACCCTCGGGCTCCTTT	0.418																																																	0													120	124	122					11																	22747881		2203	4300	6503	SO:0001583	missense	0			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.311C>G	11.37:g.22747881C>G	ENSP00000401145:p.Ser104Trp		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S104W	ENST00000454584.2	37	c.311	CCDS7858.1	11	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290137	0.80914	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.74	5.74	0.90152	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.76392	0.3981	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80027	-0.1554	10	0.62326	D	0.03	-10.604	19.9329	0.97127	0.0:1.0:0.0:0.0	.	104	O43903	GAS2_HUMAN	W	104	ENSP00000432584:S104W;ENSP00000401145:S104W;ENSP00000434478:S104W;ENSP00000278187:S104W;ENSP00000433182:S104W;ENSP00000435946:S104W;ENSP00000396708:S104W	ENSP00000278187:S104W	S	+	2	0	GAS2	22704457	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.818000	0.86416	2.714000	0.92807	0.650000	0.86243	TCG	GAS2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000148935		0.418	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	HGNC	protein_coding	OTTHUMT00000387717.1	-	0	60	0	C	NM_177553		22747881	1	tier1	-	no_errors	ENST00000278187	ensembl	human	known	74_37	missense	12.68	62	9	SNP	1.000	G	G	22747881	C	G	22747881	3	3	184	1	0	0	0	0	1	0	0	0	6270	893	31	5	321	5	GAS2	11	22747881	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	5648888	22747881	112258635	262	45939											
C11orf41	25758	genome.wustl.edu	37	chr11	33667496	33667497	+	Missense_Mutation	DNP	CC	CC	TT																															cggaggtggtgaccagcgctCcggggaccatgacgcggccc																										TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:33667496_33667497CC>TT	ENST00000321505.4	+	16	4963_4964	c.4783_4784CC>TT	c.(4783-4785)CCg>TTg	p.P1595L	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P1601L			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1595						integral component of membrane (GO:0016021)											GACCAGCGCTCCGGGGACCATG	0.668																																																	0																																										SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	Exception_encountered	11.37:g.33667496_33667497delinsTT	ENSP00000315295:p.Pro1595Leu		B0QYU0	Missense_Mutation	SNP	NULL	p.P1601S|p.P1601L	ENST00000321505.4	37	c.4801|c.4802	CCDS44565.2	11																																																																																			KIAA1549L	-	NULL	ENSG00000110427		0.668	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	-	0	42|41	0	C	NM_012194		33667496|33667497	1	tier1	-	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	29.79	33	14	SNP	0.999	T	TT	33667497	CC	TT	33667496	3	4	184	1	0	0	0	0	1	0	0	0	1645	855	30	3	4863	3	C11orf41	11	33667496	Missense_Mutation	DNP	CC	TCGA-Z6-AAPN-01A-11D-A403-09	10919615	33667496	101339020	263	45940											
F2	2147	genome.wustl.edu	37	chr11	46744983	46744983	+	Frame_Shift_Del	DEL	C	C	-																															ctacaggagaatttctgccgCaaccccgacagcagcaccac																										TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:46744983delC	ENST00000311907.5	+	6	530	c.474delC	c.(472-474)cgcfs	p.R158fs	F2_ENST00000530231.1_Frame_Shift_Del_p.R158fs	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	158	Kringle 1. {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)	ATTTCTGCCGCAACCCCGACA	0.592																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0													57	57	57					11																	46744983		2201	4299	6500	SO:0001589	frameshift_variant	0			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.474delC	11.37:g.46744983delC	ENSP00000308541:p.Arg158fs		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.N159fs	ENST00000311907.5	37	c.474	CCDS31476.1	11																																																																																			F2	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Prothrombin/thrombin,pfscan_Kringle	ENSG00000180210		0.592	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	HGNC	protein_coding	OTTHUMT00000317706.1		0	40	0	C			46744983	1	tier1		no_errors	ENST00000311907	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	0.865	-	-	46744983	C	-	46744983	7	5	184	1	0	1	0	1	0	0	0	0	5358	697	25	0	496	0	F2	11	46744983	Frame_Shift_Del	DEL	C	TCGA-Z6-AAPN-01A-11D-A403-09	13077487	46744983	88261533	264	45941											
OR4C3	256144	genome.wustl.edu	37	chr11	48346987	48346987	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accatcatgaccaggcatctCtgtgccatgcttgtaggggt	8	11	11	11	0	2	1	1	1	1	0	3	1	2	1	3	3	2	3	3	3	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:48346987C>G	ENST00000319856.4	+	1	516	c.495C>G	c.(493-495)ctC>ctG	p.L165L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	138						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						CCAGGCATCTCTGTGCCATGC	0.537																																																	0													143	137	139					11																	48346987		2201	4298	6499	SO:0001819	synonymous_variant	0			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.495C>G	11.37:g.48346987C>G			B2RNF2|Q6IFB3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L165	ENST00000319856.4	37	c.495	CCDS31489.1	11																																																																																			OR4C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000176547		0.537	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	-	0	42	0	C	NM_001004702		48346987	1	tier1	-	no_errors	ENST00000319856	ensembl	human	known	74_37	silent	11.11	40	5	SNP	0.270	G	G	48346987	C	G	48346987	2	3	184	1	0	0	0	0	0	0	0	1	11089	900	32	5		5	OR4C3	11	48346987	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1602004	48346987	86659529	265	45942											
OR5D13	390142	genome.wustl.edu	37	chr11	55541134	55541134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtccttgacagacttctGtttttccactgtagttacac	7	17	6	11	0	1	2	0	1	1	1	3	2	3	2	2	0	1	3	2	0	2	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:55541134G>T	ENST00000361760.1	+	1	221	c.221G>T	c.(220-222)tGt>tTt	p.C74F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	74						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACAGACTTCTGTTTTTCCACT	0.393																																																	0													173	161	165					11																	55541134		2200	4296	6496	SO:0001583	missense	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.221G>T	11.37:g.55541134G>T	ENSP00000354800:p.Cys74Phe		Q6IF68|Q6IFC9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C74F	ENST00000361760.1	37	c.221	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	G	3.745	-0.052840	0.07362	.	.	ENSG00000198877	ENST00000361760	T	0.16897	2.31	3.52	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.221905	0.23008	U	0.052994	T	0.36991	0.0987	M	0.77820	2.39	0.09310	N	0.999995	D	0.89917	1.0	D	0.76071	0.987	T	0.02837	-1.1104	10	0.87932	D	0	-11.7867	7.6387	0.28282	0.0:0.1751:0.6461:0.1788	.	74	Q8NGL4	OR5DD_HUMAN	F	74	ENSP00000354800:C74F	ENSP00000354800:C74F	C	+	2	0	OR5D13	55297710	0.002000	0.14202	0.900000	0.35374	0.010000	0.07245	1.269000	0.33074	2.001000	0.58596	0.486000	0.48141	TGT	OR5D13	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198877		0.393	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1		0	36	0	G	NM_001001967		55541134	1			no_errors	ENST00000361760	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.154	T	T	55541134	G	T	55541134	3	4	184	1	0	0	0	0	1	0	0	0	11193	1377	48	3	223	3	OR5D13	11	55541134	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	7194147	55541134	79465382	266	45943											
OR5I1	10798	genome.wustl.edu	37	chr11	55703532	55703532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggccatggcggccaggatGaaggattctgtatctgcaaa	11	9	13	8	1	2	1	0	1	2	0	2	3	2	3	2	5	1	2	2	5	4	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:55703532G>A	ENST00000301532.3	-	1	344	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	115					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGGCCAGGATGAAGGATTCTG	0.433																																																	0													49	52	51					11																	55703532		2201	4292	6493	SO:0001819	synonymous_variant	0			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.345C>T	11.37:g.55703532G>A			Q6IEU4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F115	ENST00000301532.3	37	c.345	CCDS7949.1	11																																																																																			OR5I1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000167825		0.433	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1	-	0	44	0	G	NM_006637		55703532	-1	tier1	-	no_errors	ENST00000301532	ensembl	human	known	74_37	silent	29.41	36	15	SNP	0.031	A	A	55703532	G	A	55703532	2	1	184	1	0	0	0	0	0	0	0	1	11203	1281	45	3		3	OR5I1	11	55703532	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	162398	55703532	79302984	267	45944											
OR8K3	219473	genome.wustl.edu	37	chr11	56085848	56085848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatcacagatatcgctgaGctgcaggcaccattatttgc	11	10	10	10	1	1	2	1	1	0	1	2	3	1	3	1	2	3	4	1	2	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:56085848G>C	ENST00000312711.1	+	1	66	c.66G>C	c.(64-66)gaG>gaC	p.E22D		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	22						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)					ATATCGCTGAGCTGCAGGCAC	0.433																																																	0													180	162	168					11																	56085848		2201	4296	6497	SO:0001583	missense	0			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.66G>C	11.37:g.56085848G>C	ENSP00000323555:p.Glu22Asp		Q6IFC4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E22D	ENST00000312711.1	37	c.66	CCDS31527.1	11	.	.	.	.	.	.	.	.	.	.	G	6.280	0.419770	0.11928	.	.	ENSG00000181689	ENST00000312711	T	0.00433	7.43	4.84	1.98	0.26296	.	0.203064	0.34338	N	0.004054	T	0.00300	0.0009	L	0.33245	0.995	0.09310	N	0.999999	B	0.22800	0.075	B	0.23852	0.049	T	0.41858	-0.9485	10	0.42905	T	0.14	.	9.6359	0.39806	0.248:0.0:0.752:0.0	.	22	Q8NH51	OR8K3_HUMAN	D	22	ENSP00000323555:E22D	ENSP00000323555:E22D	E	+	3	2	OR8K3	55842424	.	.	0.987000	0.45799	0.002000	0.02628	.	.	0.762000	0.33152	-0.154000	0.13518	GAG	OR8K3	-	NULL	ENSG00000181689		0.433	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	HGNC	protein_coding	OTTHUMT00000391602.1	-	0	45	0	G	NM_001005202		56085848	1	tier1	-	no_errors	ENST00000312711	ensembl	human	known	74_37	missense	29.82	40	17	SNP	0.380	C	C	56085848	G	C	56085848	3	2	184	1	0	0	0	0	1	0	0	0	11283	962	34	5	68	5	OR8K3	11	56085848	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	382316	56085848	78920668	268	45945											
OR8K3	219473	genome.wustl.edu	37	chr11	56086442	56086442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcttttatcttacctgctCatccttgtagccattctcag	6	18	5	12	0	4	0	2	0	3	0	6	0	5	0	3	0	3	3	3	0	3	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:56086442C>T	ENST00000312711.1	+	1	660	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(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)					CTTACCTGCTCATCCTTGTAG	0.388																																																	0													94	91	92					11																	56086442		2201	4295	6496	SO:0001819	synonymous_variant	0			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.660C>T	11.37:g.56086442C>T			Q6IFC4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L220	ENST00000312711.1	37	c.660	CCDS31527.1	11																																																																																			OR8K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181689		0.388	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	HGNC	protein_coding	OTTHUMT00000391602.1		0	35	0	C	NM_001005202		56086442	1			no_errors	ENST00000312711	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.001	T	T	56086442	C	T	56086442	2	4	184	1	0	0	0	0	0	0	0	1	11283	813	29	3		3	OR8K3	11	56086442	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	594	56086442	78920074	269	45946											
MED19	219541	genome.wustl.edu	37	chr11	57472496	57472496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtccctgtgataggattGaaagagctactgagaatagg	13	10	13	5	0	0	4	0	3	0	2	1	6	1	5	1	3	2	1	1	3	5	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:57472496G>C	ENST00000431606.2	-	2	452	c.423C>G	c.(421-423)ttC>ttG	p.F141L	MED19_ENST00000337672.2_Missense_Mutation_p.F141L			A0JLT2	MED19_HUMAN	mediator complex subunit 19	141						mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						TGATAGGATTGAAAGAGCTAC	0.562																																																	0													64	64	64					11																	57472496		2201	4296	6497	SO:0001583	missense	0			AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000431606.2:c.423C>G	11.37:g.57472496G>C	ENSP00000416227:p.Phe141Leu		Q8IV02|Q8IZD1	Missense_Mutation	SNP	pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34	p.F141L	ENST00000431606.2	37	c.423		11	.	.	.	.	.	.	.	.	.	.	A	6.084	0.383761	0.11524	.	.	ENSG00000156603	ENST00000337672;ENST00000431606	.	.	.	5.6	-2.7	0.06004	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	L	0.33093	0.98	0.49582	D	0.999802	B;B	0.29301	0.043;0.241	B;B	0.34873	0.019;0.191	T	0.43750	-0.9372	9	0.02654	T	1	-12.0634	17.6554	0.88176	0.1818:0.0:0.8182:0.0	.	141;141	A0JLT2-2;A0JLT2	.;MED19_HUMAN	L	141	.	ENSP00000337340:F141L	F	-	3	2	MED19	57229072	1.000000	0.71417	0.968000	0.41197	0.911000	0.54048	0.596000	0.24044	-0.748000	0.04753	-1.322000	0.01289	TTC	MED19	-	pfam_Mediator_Med19_met	ENSG00000156603		0.562	MED19-002	KNOWN	basic|appris_principal	protein_coding	MED19	HGNC	protein_coding	OTTHUMT00000393702.1	-	0	49	0	G	NM_153450		57472496	-1	tier1	-	no_errors	ENST00000431606	ensembl	human	known	74_37	missense	25.00	42	14	SNP	0.999	C	C	57472496	G	C	57472496	3	2	184	1	0	0	0	0	1	0	0	0	9475	1281	45	5	173	5	MED19	11	57472496	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1386054	57472496	77534020	270	45947											
RAB3IL1	5866	genome.wustl.edu	37	chr11	61674023	61674023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	tgctgctggtgctcttgtggCgagagtggccctttcggggc	2	12	17	10	2	1	1	0	0	1	1	2	2	1	1	1	5	3	3	1	5	0	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:61674023C>T	ENST00000394836.2	-	5	729	c.572G>A	c.(571-573)cGc>cAc	p.R191H	RAB3IL1_ENST00000301773.5_Intron	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	191					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						GCTCTTGTGGCGAGAGTGGCC	0.677																																																	0													36	32	34					11																	61674023		2199	4296	6495	SO:0001583	missense	0			AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.572G>A	11.37:g.61674023C>T	ENSP00000378313:p.Arg191His		Q86V32|Q9P1Q8	Missense_Mutation	SNP	pfam_Sec2p	p.R191H	ENST00000394836.2	37	c.572	CCDS8014.1	11	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216087	0.79352	.	.	ENSG00000167994	ENST00000394836;ENST00000531922	T;T	0.57107	1.29;0.42	4.73	2.76	0.32466	.	0.118877	0.64402	D	0.000016	T	0.65698	0.2716	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.66432	-0.5925	10	0.56958	D	0.05	-10.68	9.2949	0.37808	0.1431:0.7786:0.0:0.0782	.	191	Q8TBN0	R3GEF_HUMAN	H	191;238	ENSP00000378313:R191H;ENSP00000435444:R238H	ENSP00000378313:R191H	R	-	2	0	RAB3IL1	61430599	1.000000	0.71417	0.090000	0.20809	0.846000	0.48090	5.918000	0.69996	1.171000	0.42768	0.561000	0.74099	CGC	RAB3IL1	-	NULL	ENSG00000167994		0.677	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3IL1	HGNC	protein_coding	OTTHUMT00000394917.1	-	0	57	0	C	NM_013401		61674023	-1	tier1	-	no_errors	ENST00000394836	ensembl	human	known	74_37	missense	25.64	58	20	SNP	0.996	T	T	61674023	C	T	61674023	3	4	184	1	0	0	0	0	1	0	0	0	12982	768	27	1	600	1	RAB3IL1	11	61674023	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	4201527	61674023	73332493	271	45948											
AHNAK	79026	genome.wustl.edu	37	chr11	62297376	62297376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcatcttcaggtgccagtCtgggccatgaacctccacat	8	9	11	13	0	3	1	1	1	2	0	4	1	4	1	4	3	2	1	4	3	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:62297376C>G	ENST00000378024.4	-	5	4787	c.4513G>C	c.(4513-4515)Gac>Cac	p.D1505H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1505					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)				AGGTGCCAGTCTGGGCCATGA	0.483																																																	0													193	204	201					11																	62297376		2202	4299	6501	SO:0001583	missense	0			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.4513G>C	11.37:g.62297376C>G	ENSP00000367263:p.Asp1505His		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1505H	ENST00000378024.4	37	c.4513	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	c	16.45	3.126141	0.56721	.	.	ENSG00000124942	ENST00000378024	T	0.05513	3.43	4.34	4.34	0.51931	.	0.289604	0.33916	N	0.004426	T	0.30355	0.0762	M	0.88181	2.935	0.26941	N	0.966256	D	0.76494	0.999	D	0.75484	0.986	T	0.18777	-1.0326	10	0.48119	T	0.1	.	16.5107	0.84284	0.0:1.0:0.0:0.0	.	1505	Q09666	AHNK_HUMAN	H	1505	ENSP00000367263:D1505H	ENSP00000367263:D1505H	D	-	1	0	AHNAK	62053952	0.993000	0.37304	1.000000	0.80357	0.961000	0.63080	5.626000	0.67777	1.973000	0.57446	0.450000	0.29827	GAC	AHNAK	-	NULL	ENSG00000124942		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	70	0	C	NM_024060		62297376	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	11.65	91	12	SNP	1.000	G	G	62297376	C	G	62297376	3	3	184	1	0	0	0	0	1	0	0	0	414	913	32	5	13279	5	AHNAK	11	62297376	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	623353	62297376	72709140	272	45949											
AHNAK	79026	genome.wustl.edu	37	chr11	62298039	62298039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgggtcctgagacatCaatgtcagccttgggcaggt	8	10	12	11	0	2	1	2	1	0	1	3	2	3	1	3	3	1	1	3	3	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:62298039C>A	ENST00000378024.4	-	5	4124	c.3850G>T	c.(3850-3852)Gat>Tat	p.D1284Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1284					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)				CCTGAGACATCAATGTCAGCC	0.532																																																	0													192	198	196					11																	62298039		2202	4299	6501	SO:0001583	missense	0			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.3850G>T	11.37:g.62298039C>A	ENSP00000367263:p.Asp1284Tyr		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1284Y	ENST00000378024.4	37	c.3850	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	c	7.898	0.733715	0.15574	.	.	ENSG00000124942	ENST00000378024	T	0.03441	3.93	4.89	3.98	0.46160	.	0.000000	0.32655	U	0.005813	T	0.23451	0.0567	H	0.96518	3.835	0.23876	N	0.996599	D	0.58620	0.983	P	0.58873	0.847	T	0.33904	-0.9850	10	0.72032	D	0.01	.	13.1085	0.59261	0.0:0.921:0.0:0.079	.	1284	Q09666	AHNK_HUMAN	Y	1284	ENSP00000367263:D1284Y	ENSP00000367263:D1284Y	D	-	1	0	AHNAK	62054615	0.060000	0.20803	0.032000	0.17829	0.004000	0.04260	2.306000	0.43673	1.197000	0.43143	-0.142000	0.14014	GAT	AHNAK	-	NULL	ENSG00000124942		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	89	0	C	NM_024060		62298039	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	15.93	95	18	SNP	0.599	A	A	62298039	C	A	62298039	3	1	184	1	0	0	0	0	1	0	0	0	414	826	29	3	13942	3	AHNAK	11	62298039	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	663	62298039	72708477	273	45950											
AHNAK	79026	genome.wustl.edu	37	chr11	62298750	62298750	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggcctttcaacttcccttCaggtccttcaaggctcagat	7	12	8	14	1	4	1	4	0	0	1	6	1	6	1	3	3	1	1	3	3	2	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:62298750C>G	ENST00000378024.4	-	5	3413	c.3139G>C	c.(3139-3141)Gaa>Caa	p.E1047Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1047					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)				AACTTCCCTTCAGGTCCTTCA	0.463																																																	0													88	88	88					11																	62298750		2202	4299	6501	SO:0001583	missense	0			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.3139G>C	11.37:g.62298750C>G	ENSP00000367263:p.Glu1047Gln		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1047Q	ENST00000378024.4	37	c.3139	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	N	15.71	2.912991	0.52439	.	.	ENSG00000124942	ENST00000378024	T	0.01119	5.31	4.76	4.76	0.60689	.	0.418455	0.25450	N	0.030592	T	0.10121	0.0248	M	0.93854	3.465	0.33812	D	0.627962	D	0.71674	0.998	D	0.79784	0.993	T	0.41448	-0.9508	10	0.23891	T	0.37	-29.8647	17.4048	0.87470	0.0:1.0:0.0:0.0	.	1047	Q09666	AHNK_HUMAN	Q	1047	ENSP00000367263:E1047Q	ENSP00000367263:E1047Q	E	-	1	0	AHNAK	62055326	0.927000	0.31430	1.000000	0.80357	0.956000	0.61745	3.192000	0.50989	2.201000	0.70794	0.555000	0.69702	GAA	AHNAK	-	NULL	ENSG00000124942		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	65	0	C	NM_024060		62298750	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	13.70	63	10	SNP	1.000	G	G	62298750	C	G	62298750	3	3	184	1	0	0	0	0	1	0	0	0	414	835	29	5	14653	5	AHNAK	11	62298750	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	711	62298750	72707766	274	45951											
TUT1	64852	genome.wustl.edu	37	chr11	62343608	62343608	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagaccctcccagagattaGaaggcaggccccctgccaca	11	4	10	16	0	0	3	0	0	0	3	1	4	1	3	5	2	1	2	5	2	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:62343608G>C	ENST00000476907.1	-	9	2274	c.1583C>G	c.(1582-1584)tCt>tGt	p.S528C	EEF1G_ENST00000532986.1_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.S566C|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000378019.3_5'Flank|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	528	PAP-associated.				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						CCAGAGATTAGAAGGCAGGCC	0.612																																																	0													17	20	19					11																	62343608		2199	4292	6491	SO:0001583	missense	0			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.1583C>G	11.37:g.62343608G>C	ENSP00000419607:p.Ser528Cys		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S566C	ENST00000476907.1	37	c.1697		11	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580408	0.65992	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.57273	0.41;0.41	5.39	4.42	0.53409	PAP/25A-associated (1);	0.565736	0.18598	N	0.136535	T	0.51160	0.1658	N	0.24115	0.695	0.28995	N	0.887836	D;D	0.63046	0.98;0.992	P;P	0.54346	0.749;0.634	T	0.50890	-0.8774	10	0.72032	D	0.01	-9.019	13.2818	0.60219	0.0:0.1603:0.8397:0.0	.	528;566	Q9H6E5;F5H0R1	STPAP_HUMAN;.	C	566;528	ENSP00000308000:S566C;ENSP00000419607:S528C	ENSP00000308000:S566C	S	-	2	0	TUT1	62100184	0.999000	0.42202	0.929000	0.37066	0.791000	0.44710	4.392000	0.59659	2.525000	0.85131	0.563000	0.77884	TCT	TUT1	-	pfam_PAP_assoc	ENSG00000149016		0.612	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	-	0	38	0	G	NM_022830		62343608	-1	tier1	-	no_errors	ENST00000308436	ensembl	human	known	74_37	missense	8.06	57	5	SNP	0.872	C	C	62343608	G	C	62343608	3	2	184	1	0	0	0	0	1	0	0	0	16829	942	33	5	1045	5	TUT1	11	62343608	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	44858	62343608	72662908	275	45952											
C11orf85	283129	genome.wustl.edu	37	chr11	64707168	64707168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaagccggtggctgctcgctCcttaggtggaggtgagttgt	5	11	17	8	2	0	1	0	1	0	0	2	3	1	2	2	5	2	4	2	5	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:64707168C>G	ENST00000301896.5	-	10	691	c.618G>C	c.(616-618)agG>agC	p.R206S	C11orf85_ENST00000530444.1_Missense_Mutation_p.E150Q|C11orf85_ENST00000536065.1_Missense_Mutation_p.E122Q|C11orf85_ENST00000432175.1_Missense_Mutation_p.R206S	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	206										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						GCTGCTCGCTCCTTAGGTGGA	0.547																																																	0													91	90	90					11																	64707168		2201	4297	6498	SO:0001583	missense	0			AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.618G>C	11.37:g.64707168C>G	ENSP00000301896:p.Arg206Ser		B3KS99	Missense_Mutation	SNP	NULL	p.R206S	ENST00000301896.5	37	c.618	CCDS31603.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.142163|2.142163	0.37825|0.37825	.|.	.|.	ENSG00000168070|ENSG00000168070	ENST00000532617;ENST00000530444;ENST00000536065|ENST00000301896;ENST00000432175	.|.	.|.	.|.	3.61|3.61	1.69|1.69	0.24217|0.24217	.|.	.|1.135100	.|0.06841	.|N	.|0.795723	T|T	0.20700|0.20700	0.0498|0.0498	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	P|B	0.42203|0.27732	0.773|0.187	B|B	0.35312|0.22386	0.2|0.039	T|T	0.25745|0.25745	-1.0123|-1.0123	8|9	0.87932|0.13470	D|T	0|0.59	-8.1164|-8.1164	4.9343|4.9343	0.13932|0.13932	0.0:0.662:0.2182:0.1197|0.0:0.662:0.2182:0.1197	.|.	150|206	E9PPE5|Q3KP22	.|CK085_HUMAN	Q|S	49;150;122|206	.|.	ENSP00000434568:E150Q|ENSP00000301896:R206S	E|R	-|-	1|3	0|2	C11orf85|C11orf85	64463744|64463744	0.011000|0.011000	0.17503|0.17503	0.011000|0.011000	0.14972|0.14972	0.013000|0.013000	0.08279|0.08279	1.172000|1.172000	0.31908|0.31908	0.493000|0.493000	0.27837|0.27837	0.563000|0.563000	0.77884|0.77884	GAG|AGG	C11orf85	-	NULL	ENSG00000168070		0.547	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf85	HGNC	protein_coding	OTTHUMT00000385477.1	-	0	29	0	C	NM_001037225		64707168	-1	tier1	-	no_errors	ENST00000301896	ensembl	human	known	74_37	missense	27.27	23	9	SNP	0.013	G	G	64707168	C	G	64707168	3	3	184	1	0	0	0	0	1	0	0	0	1673	854	30	5	36	5	C11orf85	11	64707168	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2363560	64707168	70299348	276	45953											
SLC25A45	283130	genome.wustl.edu	37	chr11	65144518	65144518	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttttgtagccggactttGatgaggtcaaaaggagccag	10	11	14	6	1	1	2	1	2	0	0	1	4	1	4	2	4	2	2	2	4	3	4	rs370182084		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:65144518G>A	ENST00000527174.1	-	5	424	c.369C>T	c.(367-369)atC>atT	p.I123I	RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000534028.1_Silent_p.I99I|SLC25A45_ENST00000360662.3_Silent_p.I99I|SLC25A45_ENST00000294187.6_Silent_p.I81I|SLC25A45_ENST00000526432.1_Silent_p.I61I|SLC25A45_ENST00000417511.2_Silent_p.I81I|SLC25A45_ENST00000398802.1_Silent_p.I123I|SLC25A45_ENST00000377152.2_Silent_p.I19I			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	123					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						GCCGGACTTTGATGAGGTCAA	0.612																																																	0								G	,	0,3646		0,0,1823	28	31	30		243,369	5.2	1	11		30	2,8158		0,2,4078	no	coding-synonymous,coding-synonymous	SLC25A45	NM_001077241.1,NM_182556.2	,	0,2,5901	AA,AG,GG		0.0245,0.0,0.0169	,	81/247,123/289	65144518	2,11804	1823	4080	5903	SO:0001819	synonymous_variant	0			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.369C>T	11.37:g.65144518G>A			Q6PL49|Q8IW29	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.I123	ENST00000527174.1	37	c.369	CCDS41670.1	11																																																																																			SLC25A45	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000162241		0.612	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A45	HGNC	protein_coding	OTTHUMT00000388744.3	-	0	103	0	G	NM_182556		65144518	-1	tier1	-	no_errors	ENST00000398802	ensembl	human	known	74_37	silent	25.93	80	28	SNP	1.000	A	A	65144518	G	A	65144518	2	1	184	1	0	0	0	0	0	0	0	1	14555	1280	45	3		3	SLC25A45	11	65144518	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	437350	65144518	69861998	277	45954											
CNIH2	254263	genome.wustl.edu	37	chr11	66045989	66045991	+	In_Frame_Del	DEL	TCT	TCT	-																															ggtgctgtgcgcctccctcaTcttctttgtcatctggcacg																								rs143558098		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:66045989_66045991delTCT	ENST00000311445.6	+	1	320_322	c.62_64delTCT	c.(61-66)atcttc>atc	p.F23del	RP11-867G23.4_ENST00000528650.1_RNA|CNIH2_ENST00000530519.1_3'UTR|RP11-867G23.3_ENST00000501708.1_lincRNA|RP11-867G23.4_ENST00000526951.1_RNA|CNIH2_ENST00000528852.1_In_Frame_Del_p.F23del	NM_182553.2	NP_872359.1	Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	23					intracellular signal transduction (GO:0035556)|localization within membrane (GO:0051668)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|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)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						GCCTCCCTCATCTTCTTTGTCAT	0.749																																																	0																																										SO:0001651	inframe_deletion	0			BC047953	CCDS8131.1	11q13.2	2013-08-28	2013-08-28		ENSG00000174871	ENSG00000174871			28744	protein-coding gene	gene with protein product		611288	"cornichon homolog 2 (Drosophila)"			12477932	Standard	NM_182553		Approved	MGC50896, Cnil, CNIH-2	uc001ohi.2	Q6PI25	OTTHUMG00000166919	ENST00000311445.6:c.62_64delTCT	11.37:g.66045992_66045994delTCT	ENSP00000310003:p.Phe23del			In_Frame_Del	DEL	pfam_Cornichon	p.F23in_frame_del	ENST00000311445.6	37	c.62_64	CCDS8131.1	11																																																																																			CNIH2	-	pfam_Cornichon	ENSG00000174871		0.749	CNIH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNIH2	HGNC	protein_coding	OTTHUMT00000391892.1		0	40	0	TCT	NM_182553		66045991	1	tier1		no_errors	ENST00000311445	ensembl	human	known	74_37	in_frame_del	14.63	35	6	DEL	1.000:1.000:1.000	-	-	66045991	TCT	-	66045989	7	5	184	1	0	1	0	1	0	0	0	0	3610	1435	50	0	64	0	CNIH2	11	66045989	In_Frame_Del	DEL	TCT	TCGA-Z6-AAPN-01A-11D-A403-09	901471	66045989	68960527	278	45955											
C11orf80	79703	genome.wustl.edu	37	chr11	66555679	66555679	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaaagctgacttggacttCagaggaaggcagctattctc	11	10	11	9	0	2	2	1	1	1	1	3	4	2	4	0	3	3	4	0	3	3	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:66555679C>G	ENST00000360962.4	+	5	579	c.572C>G	c.(571-573)tCa>tGa	p.S191*	C11orf80_ENST00000540737.1_Nonsense_Mutation_p.S25*|C11orf80_ENST00000525449.2_Nonsense_Mutation_p.S36*|C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000346672.4_Nonsense_Mutation_p.S36*|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000532565.2_5'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	191										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						ACTTGGACTTCAGAGGAAGGC	0.413																																																	0													98	93	94					11																	66555679		1885	4114	5999	SO:0001587	stop_gained	0					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.572C>G	11.37:g.66555679C>G	ENSP00000354227:p.Ser191*		Q9H677	Nonsense_Mutation	SNP	NULL	p.S191*	ENST00000360962.4	37	c.572	CCDS53664.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.21|14.21	2.468911|2.468911	0.43839|0.43839	.|.	.|.	ENSG00000173715|ENSG00000173715	ENST00000532089|ENST00000525908;ENST00000360962;ENST00000346672;ENST00000528340;ENST00000540737;ENST00000525449	.|.	.|.	.|.	5.38|5.38	2.47|2.47	0.30058|0.30058	.|.	.|0.951167	.|0.08649	.|N	.|0.914330	T|.	0.50990|.	0.1648|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55237|.	-0.8172|.	3|.	.|0.87932	.|D	.|0	.|.	7.8676|7.8676	0.29545|0.29545	0.0:0.7359:0.0:0.2641|0.0:0.7359:0.0:0.2641	.|.	.|.	.|.	.|.	E|X	17|142;191;36;25;25;36	.|.	.|ENSP00000317408:S36X	Q|S	+|+	1|2	0|0	C11orf80|C11orf80	66312255|66312255	0.997000|0.997000	0.39634|0.39634	0.041000|0.041000	0.18516|0.18516	0.110000|0.110000	0.19582|0.19582	0.415000|0.415000	0.21181|0.21181	0.255000|0.255000	0.21593|0.21593	-0.150000|-0.150000	0.13652|0.13652	CAG|TCA	C11orf80	-	NULL	ENSG00000173715		0.413	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf80	HGNC	protein_coding		-	0	78	0	C	NM_024650		66555679	1	tier1	-	no_errors	ENST00000360962	ensembl	human	known	74_37	nonsense	18.39	71	16	SNP	0.659	G	G	66555679	C	G	66555679	4	3	184	1	0	0	0	0	0	1	0	0	1669	838	29	5	590	5	C11orf80	11	66555679	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	509690	66555679	68450837	279	45956											
KRTAP5-7	440050	genome.wustl.edu	37	chr11	71238747	71238747	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagccctgctgctgttcctCaggctgtgggtcatcctgct	4	13	11	13	0	2	0	2	0	0	0	4	0	4	0	3	2	4	5	3	2	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:71238747C>G	ENST00000398536.4	+	1	435	c.401C>G	c.(400-402)tCa>tGa	p.S134*		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	134	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						tgctgttcctcaggctgtggg	0.612																																																	0													128	136	133					11																	71238747		2200	4294	6494	SO:0001587	stop_gained	0			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.401C>G	11.37:g.71238747C>G	ENSP00000417330:p.Ser134*		B2RNM3|Q701N5	Nonsense_Mutation	SNP	NULL	p.S134*	ENST00000398536.4	37	c.401	CCDS41682.1	11	.	.	.	.	.	.	.	.	.	.	N	8.851	0.944518	0.18356	.	.	ENSG00000244411	ENST00000398536	.	.	.	1.53	-3.06	0.05379	.	.	.	.	.	.	.	.	.	.	.	0.29947	N	0.820529	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.4565	0.21932	0.1897:0.2449:0.5655:0.0	.	.	.	.	X	134	.	ENSP00000417330:S134X	S	+	2	0	KRTAP5-7	70916395	0.113000	0.22115	0.000000	0.03702	0.001000	0.01503	0.563000	0.23547	-0.824000	0.04295	-0.712000	0.03635	TCA	KRTAP5-7	-	NULL	ENSG00000244411		0.612	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-7	HGNC	protein_coding	OTTHUMT00000127953.1	-	0	96	0	C			71238747	1	tier1	-	no_errors	ENST00000398536	ensembl	human	known	74_37	nonsense	17.27	91	19	SNP	0.004	G	G	71238747	C	G	71238747	4	3	184	1	0	0	0	0	0	1	0	0	8594	838	29	5	403	5	KRTAP5-7	11	71238747	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	4683068	71238747	63767769	280	45957											
DEFB108B	245911	genome.wustl.edu	37	chr11	71548582	71548582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggcatcaaccaagaattGagagcactacacccaaaaag	17	5	9	10	0	1	2	1	1	0	2	1	3	1	2	2	2	3	2	2	2	6	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:71548582G>C	ENST00000328698.1	+	2	196	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	DEFB108B_ENST00000529157.1_3'UTR	NM_001002035.1	NP_001002035.1	Q8NET1	D108B_HUMAN	defensin, beta 108B	66					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						ACCAAGAATTGAGAGCACTAC	0.478																																																	0													71	76	75					11																	71548582		2200	4289	6489	SO:0001583	missense	0			AF529416	CCDS31631.1	11q13.4	2011-03-29			ENSG00000184276	ENSG00000184276		"Defensins, beta"	29966	protein-coding gene	gene with protein product							Standard	NM_001002035		Approved		uc010rqr.2	Q8NET1	OTTHUMG00000167533	ENST00000328698.1:c.196G>C	11.37:g.71548582G>C	ENSP00000333234:p.Glu66Gln			Missense_Mutation	SNP	NULL	p.E66Q	ENST00000328698.1	37	c.196	CCDS31631.1	11	.	.	.	.	.	.	.	.	.	.	.	0.702	-0.790620	0.02884	.	.	ENSG00000184276	ENST00000328698	T	0.13778	2.56	1.46	0.45	0.16624	.	0.456125	0.16256	N	0.222476	T	0.07638	0.0192	.	.	.	0.09310	N	1	B	0.31893	0.345	B	0.18871	0.023	T	0.25293	-1.0136	9	0.66056	D	0.02	.	4.0891	0.09962	0.2385:0.0:0.7615:0.0	.	66	Q8NET1	D108B_HUMAN	Q	66	ENSP00000333234:E66Q	ENSP00000333234:E66Q	E	+	1	0	DEFB108B	71226230	0.009000	0.17119	0.002000	0.10522	0.017000	0.09413	0.777000	0.26718	0.159000	0.19401	0.505000	0.49811	GAG	DEFB108B	-	NULL	ENSG00000184276		0.478	DEFB108B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB108B	HGNC	protein_coding	OTTHUMT00000394945.1	-	0	356	0	G	NM_001002035		71548582	1	tier1	-	no_errors	ENST00000328698	ensembl	human	known	74_37	missense	23.71	325	101	SNP	0.002	C	C	71548582	G	C	71548582	3	2	184	1	0	0	0	0	1	0	0	0	4412	1291	45	5	202	5	DEFB108B	11	71548582	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	309835	71548582	63457934	281	45958											
ARHGEF17	9828	genome.wustl.edu	37	chr11	73076558	73076558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaccatccagacacctttGagcagctggcagaagtagac	12	8	9	12	0	1	4	0	1	1	3	2	4	2	4	3	1	3	4	3	1	3	3	rs372726461		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:73076558G>C	ENST00000263674.3	+	19	6024	c.5674G>C	c.(5674-5676)Gag>Cag	p.E1892Q		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1892					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						AGACACCTTTGAGCAGCTGGC	0.577																																																	0								G	GLN/GLU	1,4399	2.1+/-5.4	0,1,2199	156	115	129		5674	4.9	1	11		129	0,8586		0,0,4293	no	missense	ARHGEF17	NM_014786.3	29	0,1,6492	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	1892/2064	73076558	1,12985	2200	4293	6493	SO:0001583	missense	0			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.5674G>C	11.37:g.73076558G>C	ENSP00000263674:p.Glu1892Gln		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.E1892Q	ENST00000263674.3	37	c.5674	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430035	0.62844	2.27E-4	0.0	ENSG00000110237	ENST00000263674	T	0.36520	1.25	5.8	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.116790	0.64402	D	0.000004	T	0.54515	0.1863	L	0.56396	1.775	0.58432	D	0.999992	D	0.89917	1.0	D	0.71184	0.972	T	0.52117	-0.8618	10	0.34782	T	0.22	-24.3275	15.0997	0.72266	0.0:0.0:0.8575:0.1425	.	1892	Q96PE2	ARHGH_HUMAN	Q	1892	ENSP00000263674:E1892Q	ENSP00000263674:E1892Q	E	+	1	0	ARHGEF17	72754206	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.896000	0.87350	1.402000	0.46780	0.655000	0.94253	GAG	ARHGEF17	-	superfamily_WD40_repeat_dom	ENSG00000110237		0.577	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	-	0	19	0	G	NM_014786		73076558	1	tier1	-	no_errors	ENST00000263674	ensembl	human	known	74_37	missense	50.00	10	10	SNP	1.000	C	C	73076558	G	C	73076558	3	2	184	1	0	0	0	0	1	0	0	0	900	1291	45	5	5748	5	ARHGEF17	11	73076558	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1527976	73076558	61929958	282	45959											
LRRC32	2615	genome.wustl.edu	37	chr11	76370959	76370959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggcgccggaggctggtctCcaggccacccatggcactgc	6	5	15	15	2	1	0	0	0	1	0	2	2	1	1	4	6	1	2	4	6	0	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:76370959C>T	ENST00000407242.2	-	3	1920	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.E560K|LRRC32_ENST00000260061.5_Missense_Mutation_p.E560K|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	560					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						AGGCTGGTCTCCAGGCCACCC	0.662																																																	0													29	30	30					11																	76370959		2200	4292	6492	SO:0001583	missense	0			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.1678G>A	11.37:g.76370959C>T	ENSP00000384126:p.Glu560Lys		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.E560K	ENST00000407242.2	37	c.1678	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919613	0.73098	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.56941	0.43;0.43;0.43	4.25	4.25	0.50352	.	0.056033	0.64402	D	0.000001	T	0.34250	0.0891	N	0.04880	-0.145	0.58432	D	0.999996	D	0.52996	0.957	P	0.46758	0.526	T	0.20306	-1.0279	10	0.06625	T	0.88	.	16.8423	0.85972	0.0:1.0:0.0:0.0	.	560	Q14392	LRC32_HUMAN	K	560	ENSP00000260061:E560K;ENSP00000384126:E560K;ENSP00000385766:E560K	ENSP00000260061:E560K	E	-	1	0	LRRC32	76048607	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.249000	0.58766	2.197000	0.70478	0.491000	0.48974	GAG	LRRC32	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000137507		0.662	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0	38	0	C	NM_005512		76370959	-1	tier1	-	no_errors	ENST00000260061	ensembl	human	known	74_37	missense	17.50	33	7	SNP	1.000	T	T	76370959	C	T	76370959	3	4	184	1	0	0	0	0	1	0	0	0	9022	864	30	3	314	3	LRRC32	11	76370959	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3294401	76370959	58635557	283	45960											
USP35	57558	genome.wustl.edu	37	chr11	77924691	77924691	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcatctgtgttcccaGgagcaggagaaggaggcccg	8	8	13	12	1	2	1	1	0	2	1	5	4	4	3	3	4	1	2	3	4	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:77924691G>T	ENST00000529308.1	+	11	3150		c.e11-1		USP35_ENST00000530535.1_Splice_Site|USP35_ENST00000441408.2_Splice_Site|USP35_ENST00000530267.1_Splice_Site|USP35_ENST00000526425.1_Splice_Site	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGTGTTCCCAGGAGCAGGAGA	0.552																																																	0													40	41	41					11																	77924691		1930	4127	6057	SO:0001630	splice_region_variant	0			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2890-1G>T	11.37:g.77924691G>T				Splice_Site	SNP	-	e10-1	ENST00000529308.1	37	c.2890-1	CCDS41693.1	11	.	.	.	.	.	.	.	.	.	.	g	21.2	4.117088	0.77323	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.842	0.88718	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP35	77602339	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.719000	0.74718	2.436000	0.82500	0.558000	0.71614	.	USP35	-	-	ENSG00000118369		0.552	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	-	0	51	0	G	XM_290527	Intron	77924691	1	tier1	-	no_errors	ENST00000529308	ensembl	human	known	74_37	splice_site	8.00	46	4	SNP	1.000	T	T	77924691	G	T	77924691	5	4	184	1	0	0	0	0	0	0	1	0	17115	1014	35	3	2927	3	USP35	11	77924691	Splice_Site	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1553732	77924691	57081825	284	45961											
NOX4	50507	genome.wustl.edu	37	chr11	89135696	89135696	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtatctaaattagtttgaTacttcagcagccctctaaaa	13	13	7	8	0	3	1	1	1	2	0	3	1	3	1	1	1	3	3	1	1	7	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:89135696T>A	ENST00000263317.4	-	9	882	c.644A>T	c.(643-645)tAt>tTt	p.Y215F	NOX4_ENST00000528341.1_Missense_Mutation_p.Y190F|NOX4_ENST00000527626.1_Missense_Mutation_p.Y49F|NOX4_ENST00000532825.1_Missense_Mutation_p.Y191F|NOX4_ENST00000527956.1_Missense_Mutation_p.Y191F|NOX4_ENST00000413594.2_Missense_Mutation_p.Y236F|NOX4_ENST00000535633.1_Missense_Mutation_p.Y191F|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000534731.1_Missense_Mutation_p.Y215F|NOX4_ENST00000343727.5_Missense_Mutation_p.Y191F|NOX4_ENST00000424319.1_Missense_Mutation_p.Y191F|NOX4_ENST00000542487.1_Missense_Mutation_p.Y191F|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000525196.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	215	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATTAGTTTGATACTTCAGCAG	0.358																																																	0													60	67	65					11																	89135696		2200	4298	6498	SO:0001583	missense	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.644A>T	11.37:g.89135696T>A	ENSP00000263317:p.Tyr215Phe		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.Y236F	ENST00000263317.4	37	c.707	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699523	0.68501	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.95272	-3.59;-3.59;-3.59;-3.57;-3.51;-3.66;-3.59;-3.59;-3.33;-3.56;-3.62	4.76	4.76	0.60689	.	0.385576	0.27031	N	0.021279	D	0.95345	0.8489	L	0.48935	1.535	0.46609	D	0.999126	P;D;D;P;B	0.71674	0.454;0.998;0.997;0.567;0.27	B;D;D;P;B	0.65323	0.205;0.925;0.934;0.458;0.184	D	0.94739	0.7917	9	.	.	.	-12.7587	14.5682	0.68194	0.0:0.0:0.0:1.0	.	191;49;190;215;215	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	F	191;191;191;215;215;191;191;191;49;190;236	ENSP00000412446:Y191F;ENSP00000440172:Y191F;ENSP00000344747:Y191F;ENSP00000436892:Y215F;ENSP00000263317:Y215F;ENSP00000434924:Y191F;ENSP00000433797:Y191F;ENSP00000439373:Y191F;ENSP00000436093:Y49F;ENSP00000436970:Y190F;ENSP00000405705:Y236F	.	Y	-	2	0	NOX4	88775344	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.426000	0.59882	1.907000	0.55213	0.383000	0.25322	TAT	NOX4	-	NULL	ENSG00000086991		0.358	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	-	0	41	0	T	NM_016931		89135696	-1	tier1	-	no_errors	ENST00000413594	ensembl	human	known	74_37	missense	23.08	50	15	SNP	1.000	A	A	89135696	T	A	89135696	3	1	184	1	0	0	0	0	1	0	0	0	10597	1406	49	5	1132	5	NOX4	11	89135696	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	11211005	89135696	45870820	285	45962											
TRPC6	7225	genome.wustl.edu	37	chr11	101341989	101341989	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatccattttttaagcttCagtaagagataaaacaggga	17	11	8	5	0	1	1	1	0	0	1	2	4	2	2	1	1	2	2	1	1	5	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:101341989C>T	ENST00000344327.3	-	9	2758	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L	TRPC6_ENST00000532133.1_Silent_p.L700L|TRPC6_ENST00000348423.4_Silent_p.L662L|TRPC6_ENST00000360497.4_Silent_p.L723L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	778					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)		TTTTAAGCTTCAGTAAGAGAT	0.428																																					Colon(166;1315 1927 11094 12848 34731)												0													103	110	108					11																	101341989		2203	4298	6501	SO:0001819	synonymous_variant	0			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.2334G>A	11.37:g.101341989C>T			Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.L778	ENST00000344327.3	37	c.2334	CCDS8311.1	11																																																																																			TRPC6	-	tigrfam_TRP_channel	ENSG00000137672		0.428	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	-	0	58	0	C	NM_004621		101341989	-1	tier1	-	no_errors	ENST00000344327	ensembl	human	known	74_37	silent	16.98	44	9	SNP	0.998	T	T	101341989	C	T	101341989	2	4	184	1	0	0	0	0	0	0	0	1	16631	813	29	3		3	TRPC6	11	101341989	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	12206293	101341989	33664527	286	45963											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103041718	103041718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggaagaatctgtactgtCagcagtttctatgcaaatcc	11	12	9	9	0	3	1	1	0	2	1	4	2	4	2	1	1	3	5	1	1	5	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:103041718C>T	ENST00000375735.2	+	34	5399	c.5255C>T	c.(5254-5256)tCa>tTa	p.S1752L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S1752L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1752	AAA 1. {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)		TCTGTACTGTCAGCAGTTTCT	0.398																																																	0													166	154	157					11																	103041718		1840	4091	5931	SO:0001583	missense	0			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.5255C>T	11.37:g.103041718C>T	ENSP00000364887:p.Ser1752Leu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S1752L	ENST00000375735.2	37	c.5255	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683369	0.88542	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.45668	0.89;0.89	4.92	4.92	0.64577	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.79293	0.4421	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88171	0.2864	9	0.87932	D	0	.	18.4867	0.90831	0.0:1.0:0.0:0.0	.	1752;1752	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	1752	ENSP00000364887:S1752L;ENSP00000381167:S1752L	ENSP00000364887:S1752L	S	+	2	0	DYNC2H1	102546928	1.000000	0.71417	0.972000	0.41901	0.742000	0.42306	7.772000	0.85439	2.432000	0.82394	0.650000	0.86243	TCA	DYNC2H1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000187240		0.398	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	70	0	C	XM_370652		103041718	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	36.36	56	32	SNP	1.000	T	T	103041718	C	T	103041718	3	4	184	1	0	0	0	0	1	0	0	0	4860	838	29	3	5389	3	DYNC2H1	11	103041718	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1699729	103041718	31964798	287	45964											
ATM	472	genome.wustl.edu	37	chr11	108186589	108186589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaagtataggggagccaGatagtttgtatggctgtggt	11	11	15	4	0	0	2	0	0	0	2	0	3	0	3	1	4	1	4	1	4	5	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:108186589G>C	ENST00000452508.2	+	42	6235	c.6046G>C	c.(6046-6048)Gat>Cat	p.D2016H	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.D2016H			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2016	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.		D -> G (in AT). {ECO:0000269|PubMed:9887333}.		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.D2016Y(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)	AGGGGAGCCAGATAGTTTGTA	0.348			"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	Substitution - Missense(1)	breast(1)											89	89	89					11																	108186589		2201	4298	6499	SO:0001583	missense	0	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.6046G>C	11.37:g.108186589G>C	ENSP00000388058:p.Asp2016His		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.D2016H	ENST00000452508.2	37	c.6046	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756218	0.89843	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.48201	0.82;0.82	5.33	5.33	0.75918	PIK-related kinase (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72187	0.3429	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76258	-0.3025	10	0.87932	D	0	.	19.0155	0.92892	0.0:0.0:1.0:0.0	.	668;2016	E9PFP9;Q13315	.;ATM_HUMAN	H	2016	ENSP00000278616:D2016H;ENSP00000388058:D2016H	ENSP00000278616:D2016H	D	+	1	0	ATM	107691799	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	9.348000	0.97062	2.502000	0.84385	0.305000	0.20034	GAT	ATM	-	superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000149311		0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	51	0	G	NM_000051		108186589	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	32.47	52	25	SNP	1.000	C	C	108186589	G	C	108186589	3	2	184	1	0	0	0	0	1	0	0	0	1110	942	33	5	6204	5	ATM	11	108186589	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	5144871	108186589	26819927	288	45965											
CEP164	22897	genome.wustl.edu	37	chr11	117257946	117257946	+	Silent	SNP	A	A	G	1	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	acagagcctgtggctcccccAgagcagctctcagaggctgc	8	6	12	15	0	1	3	1	0	1	3	3	3	2	3	3	2	4	4	3	2	0	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:117257946A>G	ENST00000278935.3	+	15	1899	c.1752A>G	c.(1750-1752)ccA>ccG	p.P584P	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	584	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)		TGGCTCCCCCAGAGCAGCTCT	0.557																																																	0													81	82	81					11																	117257946		2201	4296	6497	SO:0001819	synonymous_variant	0			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.1752A>G	11.37:g.117257946A>G			Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.P584	ENST00000278935.3	37	c.1752	CCDS31683.1	11																																																																																			CEP164	-	NULL	ENSG00000110274		0.557	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1		0	36	0	A	NM_014956		117257946	1			no_errors	ENST00000278935	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.000	G	G	117257946	A	G	117257946	2	3	184	1	0	0	0	0	0	0	0	1	3256	175	7	4		4	CEP164	11	117257946	Silent	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	9071357	117257946	17748570	289	45966											
DSCAML1	57453	genome.wustl.edu	37	chr11	117387201	117387201	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttgacggctacgtgaacGctctggctgatggagagctg	7	10	14	10	3	1	4	0	3	1	1	1	5	1	4	1	3	3	4	1	3	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:117387201G>A	ENST00000321322.6	-	8	1945	c.1944C>T	c.(1942-1944)agC>agT	p.S648S	DSCAML1_ENST00000527706.1_Silent_p.S378S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	588	Ig-like C2-type 7.				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)		CTACGTGAACGCTCTGGCTGA	0.632																																																	0													101	80	87					11																	117387201		2201	4296	6497	SO:0001819	synonymous_variant	0				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.1944C>T	11.37:g.117387201G>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S648	ENST00000321322.6	37	c.1944	CCDS8384.1	11																																																																																			DSCAML1	-	smart_Ig_sub	ENSG00000177103		0.632	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2		0	27	0	G	NM_020693		117387201	-1			no_errors	ENST00000321322	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.404	A	A	117387201	G	A	117387201	2	1	184	1	0	0	0	0	0	0	0	1	4783	1078	38	1		1	DSCAML1	11	117387201	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	129255	117387201	17619315	290	45967											
BSX	390259	genome.wustl.edu	37	chr11	122852178	122852178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcagagggtgatgggcgtGaggagccaagagggtgggtg	9	6	22	4	1	0	4	0	2	0	2	0	5	0	5	1	5	2	1	1	5	1	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:122852178G>C	ENST00000343035.2	-	1	250	c.202C>G	c.(202-204)Cac>Gac	p.H68D		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	68	His-rich.				eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		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;0.0361)		TGATGGGCGTGAGGAGCCAAG	0.582																																																	0													29	31	31					11																	122852178		2035	4177	6212	SO:0001583	missense	0				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"Homeoboxes / ANTP class : NKL subclass"	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.202C>G	11.37:g.122852178G>C	ENSP00000344285:p.His68Asp			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.H68D	ENST00000343035.2	37	c.202	CCDS41728.1	11	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221710	0.79464	.	.	ENSG00000188909	ENST00000343035	D	0.93811	-3.29	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.94414	0.8203	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.93324	0.6695	10	0.30854	T	0.27	.	18.5986	0.91239	0.0:0.0:1.0:0.0	.	68	Q3C1V8	BSH_HUMAN	D	68	ENSP00000344285:H68D	ENSP00000344285:H68D	H	-	1	0	BSX	122357388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.085000	0.94083	2.489000	0.83994	0.586000	0.80456	CAC	BSX	-	NULL	ENSG00000188909		0.582	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BSX	HGNC	protein_coding	OTTHUMT00000317076.1	-	0	15	0	G	NM_001098169		122852178	-1	tier1	-	no_errors	ENST00000343035	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C	C	122852178	G	C	122852178	3	2	184	1	0	0	0	0	1	0	0	0	1539	1290	45	5	510	5	BSX	11	122852178	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	5464977	122852178	12154338	291	45968											
VWA5A	4013	genome.wustl.edu	37	chr11	124006970	124006970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaggggtcagagattaatCagctatgcccagctgaccgg	10	10	12	9	1	2	2	2	1	0	1	2	3	2	2	2	3	3	2	2	3	3	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:124006970C>G	ENST00000456829.2	+	13	1745	c.1494C>G	c.(1492-1494)atC>atG	p.I498M	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.I498M	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	498										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						AGAGATTAATCAGCTATGCCC	0.483																																																	0													102	96	98					11																	124006970		2201	4299	6500	SO:0001583	missense	0			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.1494C>G	11.37:g.124006970C>G	ENSP00000407726:p.Ile498Met		Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.I498M	ENST00000456829.2	37	c.1494	CCDS8444.1	11	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032850	0.35893	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.04862	3.54;3.54	5.35	-1.02	0.10135	.	0.061318	0.64402	D	0.000004	T	0.20536	0.0494	M	0.85299	2.745	0.52099	D	0.999941	D	0.76494	0.999	D	0.68353	0.957	T	0.01228	-1.1412	10	0.34782	T	0.22	-26.0355	9.9084	0.41390	0.0:0.4343:0.0:0.5657	.	498	O00534	VMA5A_HUMAN	M	498	ENSP00000407726:I498M;ENSP00000376504:I498M	ENSP00000376504:I498M	I	+	3	3	VWA5A	123512180	0.001000	0.12720	0.041000	0.18516	0.552000	0.35366	-0.203000	0.09438	-0.204000	0.10235	0.650000	0.86243	ATC	VWA5A	-	NULL	ENSG00000110002		0.483	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	HGNC	protein_coding	OTTHUMT00000387273.1	-	0	23	0	C	NM_014622		124006970	1	tier1	-	no_errors	ENST00000392748	ensembl	human	known	74_37	missense	13.64	38	6	SNP	0.008	G	G	124006970	C	G	124006970	3	3	184	1	0	0	0	0	1	0	0	0	17291	816	29	5	1540	5	VWA5A	11	124006970	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1154792	124006970	10999546	292	45969											
FEZ1	9638	genome.wustl.edu	37	chr11	125325912	125325912	+	Missense_Mutation	SNP	T	T	C	0	1	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	gctcgtcccggcgggccagcTgctgcaccagctcctccgag	4	6	13	18	4	0	0	0	0	0	0	4	1	3	0	5	2	4	5	5	2	0	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:125325912T>C	ENST00000278919.3	-	6	992	c.758A>G	c.(757-759)cAg>cGg	p.Q253R	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	253					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)		GCGGGCCAGCTGCTGCACCAG	0.587																																					Melanoma(180;509 2033 10762 15939 24711)												0													63	65	64					11																	125325912		2201	4299	6500	SO:0001583	missense	0			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.758A>G	11.37:g.125325912T>C	ENSP00000278919:p.Gln253Arg		O00679|O00728|Q6IBI7	Missense_Mutation	SNP	pfam_FEZ	p.Q253R	ENST00000278919.3	37	c.758	CCDS31716.1	11	.	.	.	.	.	.	.	.	.	.	T	32	5.121688	0.94385	.	.	ENSG00000149557	ENST00000278919	T	0.33438	1.41	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.83275	0.996;0.988	T	0.63116	-0.6709	10	0.87932	D	0	-14.7715	15.5626	0.76262	0.0:0.0:0.0:1.0	.	224;253	B4DKG5;Q99689	.;FEZ1_HUMAN	R	253	ENSP00000278919:Q253R	ENSP00000278919:Q253R	Q	-	2	0	FEZ1	124831122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.967000	0.87967	2.149000	0.67028	0.533000	0.62120	CAG	FEZ1	-	pfam_FEZ	ENSG00000149557		0.587	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	-	0	11	0	T	NM_005103		125325912	-1	tier1	-	no_errors	ENST00000278919	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C	C	125325912	T	C	125325912	3	2	184	1	0	0	0	0	1	0	0	0	5845	1580	55	4	440	4	FEZ1	11	125325912	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	1318942	125325912	9680604	293	45970											
PRDM10	56980	genome.wustl.edu	37	chr11	129794884	129794884	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaaggcggtcaaaggattCtgggcaaaaaatgcaagagt	16	7	12	6	1	3	1	2	0	1	1	3	2	3	2	0	4	1	2	0	4	6	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:129794884C>G	ENST00000360871.3	-	12	2002	c.1771G>C	c.(1771-1773)Gaa>Caa	p.E591Q	PRDM10_ENST00000358825.5_Missense_Mutation_p.E595Q|PRDM10_ENST00000528746.1_Missense_Mutation_p.E565Q|PRDM10_ENST00000304538.6_Missense_Mutation_p.E505Q|PRDM10_ENST00000526082.1_Missense_Mutation_p.E509Q|PRDM10_ENST00000423662.2_Missense_Mutation_p.E509Q	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	595					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCAAAGGATTCTGGGCAAAAA	0.453																																																	0													156	158	157					11																	129794884		2201	4297	6498	SO:0001583	missense	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1771G>C	11.37:g.129794884C>G	ENSP00000354118:p.Glu591Gln		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E595Q	ENST00000360871.3	37	c.1783	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434642	0.83885	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.049546	0.85682	D	0.000000	T	0.40546	0.1121	L	0.39326	1.205	0.80722	D	1	B;B;B;B;P;B	0.43542	0.189;0.286;0.189;0.286;0.81;0.286	B;B;P;B;P;B	0.49012	0.193;0.355;0.598;0.355;0.551;0.221	T	0.15178	-1.0446	10	0.72032	D	0.01	-19.7354	19.8579	0.96771	0.0:1.0:0.0:0.0	.	505;591;595;509;505;509	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	Q	595;505;591;509;565;509;308	ENSP00000351686:E595Q;ENSP00000302669:E505Q;ENSP00000354118:E591Q;ENSP00000398431:E509Q;ENSP00000431262:E565Q;ENSP00000432237:E509Q;ENSP00000435940:E308Q	ENSP00000302669:E505Q	E	-	1	0	PRDM10	129300094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.687000	0.91594	0.655000	0.94253	GAA	PRDM10	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170325		0.453	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	-	0	37	0	C	NM_199437		129794884	-1	tier1	-	no_errors	ENST00000358825	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	G	G	129794884	C	G	129794884	3	3	184	1	0	0	0	0	1	0	0	0	12493	922	32	5	1739	5	PRDM10	11	129794884	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	4468972	129794884	5211632	294	45971											
B3GAT1	27087	genome.wustl.edu	37	chr11	134252719	134252719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttgaagtaggcctggcttCgctgcagaatgagccgcagg	8	8	15	10	2	0	3	0	2	0	1	1	3	0	3	2	3	2	6	2	3	3	3	rs368413334		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr11:134252719C>T	ENST00000524765.1	-	4	5347	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	B3GAT1_ENST00000312527.4_Missense_Mutation_p.R268Q|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R268Q|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R281Q			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	268					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGCCTGGCTTCGCTGCAGAAT	0.587																																																	0								C	GLN/ARG,GLN/ARG	0,4402		0,0,2201	121	94	103		803,803	5.2	1	11		103	2,8592	2.2+/-6.3	0,2,4295	no	missense,missense	B3GAT1	NM_018644.3,NM_054025.2	43,43	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	268/335,268/335	134252719	2,12994	2201	4297	6498	SO:0001583	missense	0			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.803G>A	11.37:g.134252719C>T	ENSP00000433847:p.Arg268Gln		Q96FS7	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.R281Q	ENST00000524765.1	37	c.842	CCDS8500.1	11	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479650	0.84747	0.0	2.33E-4	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.22	5.22	0.72569	.	0.175695	0.49916	D	0.000125	T	0.58538	0.2129	L	0.56396	1.775	0.53688	D	0.999978	B;B	0.25235	0.027;0.121	B;B	0.15484	0.008;0.013	T	0.54840	-0.8233	10	0.18276	T	0.48	-12.9879	18.9552	0.92655	0.0:1.0:0.0:0.0	.	281;268	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	Q	268;268;268;281	ENSP00000376359:R268Q;ENSP00000307875:R268Q;ENSP00000433847:R268Q;ENSP00000445983:R281Q	ENSP00000307875:R268Q	R	-	2	0	B3GAT1	133757929	1.000000	0.71417	0.980000	0.43619	0.988000	0.76386	4.763000	0.62257	2.721000	0.93114	0.491000	0.48974	CGA	B3GAT1	-	pfam_Glyco_trans_43	ENSG00000109956		0.587	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	HGNC	protein_coding	OTTHUMT00000393639.1	-	0	42	0	C	NM_018644		134252719	-1	tier1	-	no_errors	ENST00000537389	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.997	T	T	134252719	C	T	134252719	3	4	184	1	0	0	0	0	1	0	0	0	1254	884	31	1	209	1	B3GAT1	11	134252719	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	4457835	134252719	753797	295	45972											
CACNA1C	775	genome.wustl.edu	37	chr12	2783715	2783715	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgccctgcagggaacctaGaacaagccaatgaggagctg	12	5	12	12	1	0	2	0	1	0	1	1	4	1	4	4	2	5	2	4	2	5	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:2783715G>C	ENST00000347598.4	+	41	4879	c.4879G>C	c.(4879-4881)Gaa>Caa	p.E1627Q	CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1599Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1596Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1579Q|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E1579Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1604Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1579Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1607Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1587Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1579Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1579Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1579Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1585Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1598Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1579Q|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1579Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1598Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1579Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1579Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1620Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1598Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1587Q	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1627					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)	AGGGAACCTAGAACAAGCCAA	0.602																																																	0													23	29	27					12																	2783715		2183	4284	6467	SO:0001583	missense	0			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.4879G>C	12.37:g.2783715G>C	ENSP00000266376:p.Glu1627Gln		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E1579Q	ENST00000347598.4	37	c.4735	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958699	0.53400	.	.	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	0.96587	-4.01;-4.01;-4.0;-3.99;-4.0;-4.01;-3.92;-3.95;-4.01;-3.92;-3.94;-4.01;-4.03;-3.93;-3.86;-4.06;-4.01;-4.0;-4.02;-3.95;-4.01;-4.05	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	L	0.32530	0.975	0.80722	D	1	P;B;B;D;B;B;B;B;D;P;B;P;B;B;B;B;B;D;B;D;D;B;P;D;D	0.76494	0.822;0.035;0.034;0.992;0.02;0.042;0.034;0.023;0.976;0.631;0.042;0.825;0.068;0.023;0.008;0.001;0.001;0.991;0.02;0.997;0.999;0.042;0.912;0.998;0.997	P;B;B;P;B;B;B;B;P;P;B;P;B;B;B;B;B;P;B;D;D;B;P;D;D	0.81914	0.529;0.009;0.021;0.856;0.014;0.033;0.023;0.033;0.908;0.791;0.033;0.529;0.353;0.068;0.003;0.008;0.003;0.9;0.014;0.962;0.995;0.033;0.765;0.993;0.981	D	0.97752	1.0215	10	0.87932	D	0	.	17.144	0.86761	0.0:0.0:1.0:0.0	.	270;1620;1576;1627;1579;1598;1579;1596;1607;1579;1599;1579;1539;1627;1579;1579;1579;1587;1585;1587;1568;1598;1598;1579;1579	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;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	1604;1579;1579;1607;1579;1598;1598;1587;1579;1627;1599;1579;1620;1596;1579;1585;1598;1579;1579;1579;1579;1587;1409	ENSP00000336982:E1604Q;ENSP00000382563:E1579Q;ENSP00000382552:E1579Q;ENSP00000382547:E1607Q;ENSP00000382506:E1579Q;ENSP00000382530:E1598Q;ENSP00000382546:E1598Q;ENSP00000382500:E1587Q;ENSP00000382549:E1579Q;ENSP00000266376:E1627Q;ENSP00000382515:E1599Q;ENSP00000382510:E1579Q;ENSP00000341092:E1620Q;ENSP00000382537:E1596Q;ENSP00000329877:E1579Q;ENSP00000382557:E1585Q;ENSP00000385724:E1598Q;ENSP00000382512:E1579Q;ENSP00000382542:E1579Q;ENSP00000382526:E1579Q;ENSP00000385896:E1579Q;ENSP00000382504:E1587Q	ENSP00000323129:E1409Q	E	+	1	0	CACNA1C	2653976	1.000000	0.71417	0.987000	0.45799	0.025000	0.11179	9.601000	0.98297	2.269000	0.75478	0.563000	0.77884	GAA	CACNA1C	-	NULL	ENSG00000151067		0.602	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0	53	0	G	NM_000719		2783715	1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	missense	14.55	47	8	SNP	1.000	C	C	2783715	G	C	2783715	3	2	184	1	0	0	0	0	1	0	0	0	2547	943	33	5	5272	5	CACNA1C	12	2783715	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09		2783715	131068180	296	45973											
ANO2	57101	genome.wustl.edu	37	chr12	5672624	5672624	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttctcatgctcctctttCaggaagaaatccactaataa	13	12	5	11	0	3	1	2	0	2	1	6	2	5	2	2	1	2	2	2	1	4	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:5672624C>G	ENST00000356134.5	-	27	2912	c.2841G>C	c.(2839-2841)ctG>ctC	p.L947L	ANO2_ENST00000327087.8_Silent_p.L946L|ANO2_ENST00000546188.1_Silent_p.L947L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	951					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCTCCTCTTTCAGGAAGAAAT	0.552																																																	0													56	55	55					12																	5672624		1947	4152	6099	SO:0001819	synonymous_variant	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2841G>C	12.37:g.5672624C>G			C4N787|Q9H847	Silent	SNP	pfam_Anoctamin	p.L947	ENST00000356134.5	37	c.2841		12																																																																																			ANO2	-	NULL	ENSG00000047617		0.552	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	-	0	14	0	C	NM_020373		5672624	-1	tier1	-	no_errors	ENST00000356134	ensembl	human	known	74_37	silent	54.84	14	17	SNP	1.000	G	G	5672624	C	G	5672624	2	3	184	1	0	0	0	0	0	0	0	1	697	813	29	5		5	ANO2	12	5672624	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2888909	5672624	128179271	297	45974											
PLEKHA9	51054	genome.wustl.edu	37	chr12	45567423	45567423	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattttcaacaagatccatCttaacaggagcaaacactgt	16	11	5	9	0	2	1	1	0	1	1	3	2	3	2	1	1	4	1	1	1	5	4	rs368700010		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:45567423C>T	ENST00000256692.5	-	0	1262					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAAGATCCATCTTAACAGGAG	0.413																																																	0													158	149	152					12																	45567423		2203	4300	6503			0			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"putative glycolipid transfer protein"		"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567423C>T				RNA	SNP	-	NULL	ENST00000256692.5	37	NULL		12																																																																																			PLEKHA8P1	-	-	ENSG00000134297		0.413	PLEKHA8P1-002	KNOWN	basic	processed_transcript	PLEKHA8P1	HGNC	pseudogene	OTTHUMT00000404814.1	-	0	51	0	C	NR_037144		45567423	-1	tier1	-	no_errors	ENST00000256692	ensembl	human	known	74_37	rna	18.39	71	16	SNP	1.000	T	T	45567423	C	T	45567423	1	4	184	0	1	0	0	0	0	0	0	0	12102	912	32	3		3	PLEKHA9	12	45567423	RNA	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	39894799	45567423	88284472	298	45975											
PFKM	5213	genome.wustl.edu	37	chr12	48531621	48531621	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	gcctgcccctcatggaatgtGtccaggtggtaagtactgat	8	11	12	10	0	1	1	1	1	0	0	2	2	2	2	4	3	2	2	4	3	3	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:48531621G>A	ENST00000312352.7	+	11	1093	c.1054G>A	c.(1054-1056)Gtc>Atc	p.V352I	PFKM_ENST00000340802.6_Missense_Mutation_p.V423I|PFKM_ENST00000547587.1_Missense_Mutation_p.V352I|PFKM_ENST00000551804.1_Missense_Mutation_p.V321I|PFKM_ENST00000359794.5_Missense_Mutation_p.V352I|PFKM_ENST00000395233.2_Missense_Mutation_p.V321I	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	352	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CATGGAATGTGTCCAGGTGGT	0.547																																																	0													134	124	127					12																	48531621		2203	4300	6503	SO:0001583	missense	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1054G>A	12.37:g.48531621G>A	ENSP00000309438:p.Val352Ile		J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.V352I	ENST00000312352.7	37	c.1054	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	G	29.6	5.015800	0.93404	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.44	4.44	0.53790	Phosphofructokinase domain (1);	0.068967	0.56097	D	0.000021	D	0.92195	0.7525	H	0.94222	3.51	0.80722	D	1	D;D;P	0.89917	1.0;0.997;0.793	D;D;P	0.91635	0.999;0.996;0.772	D	0.93425	0.6780	10	0.48119	T	0.1	-27.1023	16.4107	0.83712	0.0:0.0:1.0:0.0	.	321;352;423	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	I	423;352;321;321;352;352	ENSP00000345771:V423I;ENSP00000352842:V352I;ENSP00000378656:V321I;ENSP00000448177:V321I;ENSP00000449426:V352I;ENSP00000309438:V352I	ENSP00000309438:V352I	V	+	1	0	PFKM	46817888	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.582000	0.98214	2.475000	0.83589	0.643000	0.83706	GTC	PFKM	-	superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.547	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	-	0	32	0	G	NM_000289		48531621	1	tier1	-	no_errors	ENST00000312352	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	A	A	48531621	G	A	48531621	3	1	184	1	0	0	0	0	1	0	0	0	11804	1377	48	3	1313	3	PFKM	12	48531621	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2964198	48531621	85320274	299	45976											
MLL2	8085	genome.wustl.edu	37	chr12	49427918	49427918	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttctcagcatcagcttCtgggaactcacggccagctt	8	10	10	13	1	4	0	3	0	2	0	5	2	4	1	1	2	5	4	1	2	1	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:49427918C>A	ENST00000301067.7	-	38	10671	c.10672G>T	c.(10672-10674)Gaa>Taa	p.E3558*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3558	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)										GCATCAGCTTCTGGGAACTCA	0.547																																																	0													69	66	67					12																	49427918		2001	4188	6189	SO:0001587	stop_gained	0			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.10672G>T	12.37:g.49427918C>A	ENSP00000301067:p.Glu3558*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E3558*	ENST00000301067.7	37	c.10672	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	52	18.693044	0.99909	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.38	5.38	0.77491	.	0.000000	0.37715	N	0.001965	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2915	0.90131	0.0:1.0:0.0:0.0	.	.	.	.	X	3558	.	ENSP00000301067:E3558X	E	-	1	0	MLL2	47714185	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	2.711000	0.92665	0.563000	0.77884	GAA	KMT2D	-	NULL	ENSG00000167548		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	26	0	C			49427918	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense	21.62	29	8	SNP	1.000	A	A	49427918	C	A	49427918	4	1	184	1	0	0	0	0	0	1	0	0	9659	922	32	3	6009	3	MLL2	12	49427918	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	896297	49427918	84423977	300	45977											
NCKAP5L	57701	genome.wustl.edu	37	chr12	50186476	50186476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaccatcaggacaggtctCatggccccggtggcccggag	7	6	13	15	2	3	0	3	0	1	0	4	2	3	2	4	6	0	0	4	6	0	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:50186476C>G	ENST00000335999.6	-	11	3835	c.3634G>C	c.(3634-3636)Gag>Cag	p.E1212Q		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1208	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGACAGGTCTCATGGCCCCGG	0.667																																																	0													13	16	15					12																	50186476		2166	4262	6428	SO:0001583	missense	0			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.3634G>C	12.37:g.50186476C>G	ENSP00000337998:p.Glu1212Gln		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	NULL	p.E1212Q	ENST00000335999.6	37	c.3634	CCDS41781.2	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.047|1.047	-0.676970|-0.676970	0.03378|0.03378	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000335999;ENST00000354423|ENST00000433948	T|.	0.40756|.	1.02|.	4.3|4.3	2.32|2.32	0.28847|0.28847	.|.	0.569068|.	0.14856|.	N|.	0.294363|.	T|.	0.08670|.	0.0215|.	N|N	0.00926|0.00926	-1.1|-1.1	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|.	0.34104|.	-0.9842|.	10|.	0.02654|.	T|.	1|.	-1.8|-1.8	6.134|6.134	0.20221|0.20221	0.0:0.1495:0.4896:0.3609|0.0:0.1495:0.4896:0.3609	.|.	1186;1208;1208|.	E2QRB5;Q9HCH0;Q9HCH0-2|.	.;NCK5L_HUMAN;.|.	Q|S	1212;1186|926	ENSP00000337998:E1212Q|.	ENSP00000337998:E1212Q|.	E|X	-|-	1|2	0|2	NCKAP5L|NCKAP5L	48472743|48472743	0.866000|0.866000	0.29940|0.29940	0.542000|0.542000	0.28115|0.28115	0.929000|0.929000	0.56500|0.56500	0.756000|0.756000	0.26419|0.26419	0.513000|0.513000	0.28278|0.28278	-0.270000|-0.270000	0.10280|0.10280	GAG|TGA	NCKAP5L	-	NULL	ENSG00000167566		0.667	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP5L	HGNC	protein_coding	OTTHUMT00000346884.2	-	0	23	0	C	XM_035497		50186476	-1	tier1	-	no_errors	ENST00000335999	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.558	G	G	50186476	C	G	50186476	3	3	184	1	0	0	0	0	1	0	0	0	10263	835	29	5	382	5	NCKAP5L	12	50186476	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	758558	50186476	83665419	301	45978											
SLC11A2	4891	genome.wustl.edu	37	chr12	51393017	51393017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaaaaaatgcttctagcttCcgcaagcctaaaggaaaaaa	18	7	6	10	1	1	0	0	0	1	0	2	1	2	1	3	1	3	3	3	1	10	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:51393017C>T	ENST00000262051.7	-	8	702	c.615G>A	c.(613-615)cgG>cgA	p.R205R	SLC11A2_ENST00000545993.2_Silent_p.R201R|SLC11A2_ENST00000547198.1_Silent_p.R205R|SLC11A2_ENST00000546743.1_Silent_p.R126R|SLC11A2_ENST00000541174.2_Silent_p.R205R|SLC11A2_ENST00000262052.5_Silent_p.R205R|SLC11A2_ENST00000394904.3_Silent_p.R234R|SLC11A2_ENST00000547688.1_Silent_p.R234R	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	205					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CTTCTAGCTTCCGCAAGCCTA	0.453																																																	0													80	78	79					12																	51393017		2203	4300	6503	SO:0001819	synonymous_variant	0			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"Solute carriers"	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.615G>A	12.37:g.51393017C>T			B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like	p.R234	ENST00000262051.7	37	c.702	CCDS53792.1	12																																																																																			SLC11A2	-	pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like	ENSG00000110911		0.453	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC11A2	HGNC	protein_coding	OTTHUMT00000404383.1	-	0	63	0	C			51393017	-1	tier1	-	no_errors	ENST00000394904	ensembl	human	known	74_37	silent	7.53	86	7	SNP	1.000	T	T	51393017	C	T	51393017	2	4	184	1	0	0	0	0	0	0	0	1	14426	842	30	3		3	SLC11A2	12	51393017	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1206541	51393017	82458878	302	45979											
SCN8A	6334	genome.wustl.edu	37	chr12	52056610	52056610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgagaagatggcagcGcggctgcttgcaccaccagg	10	5	15	11	2	0	2	0	1	0	2	0	4	0	3	2	4	3	4	2	4	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:52056610G>A	ENST00000354534.6	+	2	187	c.9G>A	c.(7-9)gcG>gcA	p.A3A	SCN8A_ENST00000550891.1_Silent_p.A3A|SCN8A_ENST00000545061.1_Silent_p.A3A	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	3					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)	AGATGGCAGCGCGGCTGCTTG	0.517																																																	0													102	101	101					12																	52056610		2041	4214	6255	SO:0001819	synonymous_variant	0			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.9G>A	12.37:g.52056610G>A			B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.A3	ENST00000354534.6	37	c.9	CCDS44891.1	12																																																																																			SCN8A	-	NULL	ENSG00000196876		0.517	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3		0	15	0	G	NM_014191		52056610	1			no_errors	ENST00000354534	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.915	A	A	52056610	G	A	52056610	2	1	184	1	0	0	0	0	0	0	0	1	13969	1074	38	1		1	SCN8A	12	52056610	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	663593	52056610	81795285	303	45980											
ACVR1B	91	genome.wustl.edu	37	chr12	52380666	52380666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttgactcctttaaatgtGctgatatttatgccctcggg	8	16	8	9	1	0	2	0	2	0	0	2	2	1	2	2	1	2	1	2	1	4	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:52380666G>A	ENST00000257963.4	+	7	1278	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	ACVR1B_ENST00000542485.1_Missense_Mutation_p.A349T|ACVR1B_ENST00000426655.2_Missense_Mutation_p.A401T|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000415850.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A442T	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	401	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)	CTTTAAATGTGCTGATATTTA	0.413																																																	0													129	125	127					12																	52380666		2203	4300	6503	SO:0001583	missense	0				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.1201G>A	12.37:g.52380666G>A	ENSP00000257963:p.Ala401Thr		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A401T	ENST00000257963.4	37	c.1201	CCDS8816.1	12	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044077	0.93685	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	4.77	4.77	0.60923	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	0.95564	0.8558	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.996	D;D;D;D	0.78314	0.982;0.982;0.991;0.914	D	0.94589	0.7786	10	0.38643	T	0.18	.	18.3723	0.90411	0.0:0.0:1.0:0.0	.	442;401;401;401	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	T	401;442;401;401;349	ENSP00000257963:A401T;ENSP00000442656:A442T;ENSP00000390477:A401T;ENSP00000397550:A401T;ENSP00000442885:A349T	ENSP00000257963:A401T	A	+	1	0	ACVR1B	50666933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.668000	0.90789	0.563000	0.77884	GCT	ACVR1B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135503		0.413	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	-	0	38	0	G	NM_020328		52380666	1	tier1	-	no_errors	ENST00000257963	ensembl	human	known	74_37	missense	14.58	41	7	SNP	1.000	A	A	52380666	G	A	52380666	3	1	184	1	0	0	0	0	1	0	0	0	221	1319	46	3	1354	3	ACVR1B	12	52380666	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	324056	52380666	81471229	304	45981											
KRT78	196374	genome.wustl.edu	37	chr12	53242563	53242563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccccaggtactcccacgaGagccttccaggcacccccca	9	4	7	21	1	0	1	0	0	0	1	2	2	2	1	8	2	2	2	8	2	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:53242563G>C	ENST00000304620.4	-	1	215	c.152C>G	c.(151-153)tCt>tGt	p.S51C	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	51	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						ACTCCCACGAGAGCCTTCCAG	0.672																																																	0													20	22	21					12																	53242563		2203	4299	6502	SO:0001583	missense	0			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.152C>G	12.37:g.53242563G>C	ENSP00000306261:p.Ser51Cys		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S51C	ENST00000304620.4	37	c.152	CCDS8840.1	12	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512114	0.44660	.	.	ENSG00000170423	ENST00000304620	T	0.75477	-0.94	5.18	2.28	0.28536	.	.	.	.	.	T	0.60983	0.2311	L	0.35723	1.085	0.09310	N	1	B	0.15719	0.014	B	0.14578	0.011	T	0.53913	-0.8371	9	0.72032	D	0.01	.	3.8081	0.08786	0.1512:0.1296:0.5858:0.1334	.	51	Q8N1N4	K2C78_HUMAN	C	51	ENSP00000306261:S51C	ENSP00000306261:S51C	S	-	2	0	KRT78	51528830	0.000000	0.05858	0.002000	0.10522	0.075000	0.17131	-0.247000	0.08866	0.265000	0.21872	0.491000	0.48974	TCT	KRT78	-	NULL	ENSG00000170423		0.672	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT78	HGNC	protein_coding	OTTHUMT00000406380.1	-	0	35	0	G	NM_173352		53242563	-1	tier1	-	no_errors	ENST00000304620	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.004	C	C	53242563	G	C	53242563	3	2	184	1	0	0	0	0	1	0	0	0	8518	942	33	5	1446	5	KRT78	12	53242563	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	861897	53242563	80609332	305	45982											
NCKAP1L	3071	genome.wustl.edu	37	chr12	54905766	54905766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgtcatgggtgcctcaactCcaatagccagtgccagaagc	10	9	10	12	0	2	1	2	0	0	1	3	1	3	1	4	1	5	0	4	1	4	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:54905766C>G	ENST00000293373.6	+	9	897	c.818C>G	c.(817-819)tCc>tGc	p.S273C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S223C|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	273					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCCTCAACTCCAATAGCCAG	0.488																																																	0													150	134	139					12																	54905766		2203	4300	6503	SO:0001583	missense	0			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.818C>G	12.37:g.54905766C>G	ENSP00000293373:p.Ser273Cys		B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.S273C	ENST00000293373.6	37	c.818	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673194	0.67928	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.32023	1.47;1.47	5.61	4.67	0.58626	.	0.190600	0.45867	D	0.000324	T	0.31949	0.0813	N	0.24115	0.695	0.31691	N	0.641893	P	0.40731	0.728	P	0.51582	0.674	T	0.25606	-1.0127	10	0.48119	T	0.1	-5.9615	11.7159	0.51653	0.0:0.8223:0.1777:0.0	.	273	P55160	NCKPL_HUMAN	C	273;223	ENSP00000293373:S273C;ENSP00000445596:S223C	ENSP00000293373:S273C	S	+	2	0	NCKAP1L	53192033	0.272000	0.24172	1.000000	0.80357	0.990000	0.78478	2.202000	0.42743	2.665000	0.90641	0.558000	0.71614	TCC	NCKAP1L	-	pfam_Nck-associated_protein-1	ENSG00000123338		0.488	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	-	0	51	0	C	NM_005337		54905766	1	tier1	-	no_errors	ENST00000293373	ensembl	human	known	74_37	missense	19.40	54	13	SNP	1.000	G	G	54905766	C	G	54905766	3	3	184	1	0	0	0	0	1	0	0	0	10261	855	30	5	852	5	NCKAP1L	12	54905766	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1663203	54905766	78946129	306	45983											
TIMELESS	8914	genome.wustl.edu	37	chr12	56826260	56826260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatccaggccgctgaggtGaatcgcccagaggagctggt	8	7	15	11	2	1	3	1	2	0	1	3	4	2	4	3	4	1	2	3	4	1	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:56826260G>T	ENST00000553532.1	-	7	730	c.580C>A	c.(580-582)Cac>Aac	p.H194N	TIMELESS_ENST00000554616.1_Missense_Mutation_p.H194N|TIMELESS_ENST00000229201.4_Missense_Mutation_p.H193N					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCGCTGAGGTGAATCGCCCAG	0.547																																																	0													113	107	109					12																	56826260		2203	4300	6503	SO:0001583	missense	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.580C>A	12.37:g.56826260G>T	ENSP00000450607:p.His194Asn			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.H194N	ENST00000553532.1	37	c.580	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740426	0.89573	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.66099	-0.19;-0.19;0.88	5.21	5.21	0.72293	Timeless protein (1);	0.000000	0.85682	D	0.000000	T	0.75148	0.3810	M	0.77820	2.39	0.80722	D	1	D;D	0.58970	0.98;0.984	P;P	0.56216	0.69;0.794	T	0.74025	-0.3797	10	0.32370	T	0.25	-22.95	17.9104	0.88932	0.0:0.0:1.0:0.0	.	193;194	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	N	193;194;194	ENSP00000229201:H193N;ENSP00000450607:H194N;ENSP00000450848:H194N	ENSP00000229201:H194N	H	-	1	0	TIMELESS	55112527	1.000000	0.71417	0.961000	0.40146	0.945000	0.59286	9.336000	0.96533	2.619000	0.88677	0.462000	0.41574	CAC	TIMELESS	-	pfam_Timeless	ENSG00000111602		0.547	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	-	0	30	0	G	NM_003920		56826260	-1	tier1	-	no_errors	ENST00000553532	ensembl	human	known	74_37	missense	25.00	33	11	SNP	1.000	T	T	56826260	G	T	56826260	3	4	184	1	0	0	0	0	1	0	0	0	15951	1290	45	3	3138	3	TIMELESS	12	56826260	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1920494	56826260	77025635	307	45984											
HELB	92797	genome.wustl.edu	37	chr12	66700240	66700240	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggttctaaagagatgttGaaagagatagaagagatttt	16	12	11	2	0	2	5	1	1	1	4	2	8	2	5	0	1	0	2	0	1	5	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:66700240G>C	ENST00000247815.4	+	3	782	c.723G>C	c.(721-723)ttG>ttC	p.L241F		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	241					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAGAGATGTTGAAAGAGATAG	0.368																																																	0													116	120	119					12																	66700240		2203	4300	6503	SO:0001583	missense	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.723G>C	12.37:g.66700240G>C	ENSP00000247815:p.Leu241Phe		A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.L241F	ENST00000247815.4	37	c.723	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378387	0.24944	.	.	ENSG00000127311	ENST00000247815	T	0.18810	2.19	5.9	2.99	0.34606	.	0.246783	0.34291	N	0.004088	T	0.15912	0.0383	L	0.55834	1.745	0.09310	N	1	B	0.34372	0.451	B	0.31101	0.124	T	0.11641	-1.0579	9	.	.	.	-16.6027	5.3723	0.16146	0.1512:0.1234:0.6106:0.1148	.	241	Q8NG08	HELB_HUMAN	F	241	ENSP00000247815:L241F	.	L	+	3	2	HELB	64986507	0.609000	0.26975	0.123000	0.21794	0.015000	0.08874	0.734000	0.26101	1.497000	0.48584	0.561000	0.74099	TTG	HELB	-	NULL	ENSG00000127311		0.368	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	-	0	96	0	G			66700240	1	tier1	-	no_errors	ENST00000247815	ensembl	human	known	74_37	missense	9.52	95	10	SNP	0.002	C	C	66700240	G	C	66700240	3	2	184	1	0	0	0	0	1	0	0	0	7072	1281	45	5	733	5	HELB	12	66700240	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	9873980	66700240	67151655	308	45985											
CCDC59	29080	genome.wustl.edu	37	chr12	82752046	82752046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcgggtggttaggccgcCatgtcttctgtctcacattc	4	14	11	12	2	3	0	1	0	3	0	5	0	3	0	2	3	1	1	2	3	1	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:82752046C>A	ENST00000256151.7	-	1	521	c.110G>T	c.(109-111)tGg>tTg	p.W37L	METTL25_ENST00000248306.3_5'Flank|CCDC59_ENST00000548126.1_Intron	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	37					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						GTTAGGCCGCCATGTCTTCTG	0.547											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70	65	67					12																	82752046		2203	4300	6503	SO:0001583	missense	0			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.110G>T	12.37:g.82752046C>A	ENSP00000256151:p.Trp37Leu	1216	Q9H2V5|Q9NW62	Missense_Mutation	SNP	pfam_rRNA_processing,prints_rRNA_processing	p.W37L	ENST00000256151.7	37	c.110	CCDS9023.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420537	0.83559	.	.	ENSG00000133773	ENST00000552377;ENST00000256151	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	L	0.46819	1.47	0.54753	D	0.999981	D	0.89917	1.0	D	0.80764	0.994	T	0.75631	-0.3251	9	0.66056	D	0.02	-4.0827	15.5877	0.76499	0.0:1.0:0.0:0.0	.	37	Q9P031	TAP26_HUMAN	L	37	.	ENSP00000256151:W37L	W	-	2	0	CCDC59	81276177	0.997000	0.39634	0.502000	0.27614	0.016000	0.09150	4.152000	0.58111	2.420000	0.82092	0.585000	0.79938	TGG	CCDC59	-	prints_rRNA_processing	ENSG00000133773		0.547	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC59	HGNC	protein_coding	OTTHUMT00000408186.1	-	0	39	0	C	NM_014167		82752046	-1	tier1	-	no_errors	ENST00000256151	ensembl	human	known	74_37	missense	22.97	57	17	SNP	0.984	A	A	82752046	C	A	82752046	3	1	184	1	0	0	0	0	1	0	0	0	2836	595	21	3	631	3	CCDC59	12	82752046	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	16051806	82752046	51099849	309	45986											
C12orf29	91298	genome.wustl.edu	37	chr12	88442121	88442124	+	Frame_Shift_Del	DEL	TAAG	TAAG	-																															tgtgactctgcctttgatatTaagtgtttgtttaatcattt																										TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	TAAG	TAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:88442121_88442124delTAAG	ENST00000356891.3	+	7	1103_1106	c.900_903delTAAG	c.(898-903)attaagfs	p.IK300fs		NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	300					hematopoietic progenitor cell differentiation (GO:0002244)					large_intestine(3)|lung(1)|ovary(1)	5						CCTTTGATATTAAGTGTTTGTTTA	0.27																																																	0																																										SO:0001589	frameshift_variant	0			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.900_903delTAAG	12.37:g.88442121_88442124delTAAG	ENSP00000349358:p.Ile300fs		Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	Frame_Shift_Del	DEL	NULL	p.K301fs	ENST00000356891.3	37	c.900_903	CCDS31866.1	12																																																																																			C12orf29	-	NULL	ENSG00000133641		0.27	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf29	HGNC	protein_coding	OTTHUMT00000406335.1		0	75	0	TAAG	NM_001009894		88442124	1	tier1		no_errors	ENST00000356891	ensembl	human	known	74_37	frame_shift_del	40.26	46	31	DEL	0.250:0.251:0.177:0.110	-	-	88442124	TAAG	-	88442121	7	5	184	1	0	1	0	1	0	0	0	0	1685	1742	61	0	926	0	C12orf29	12	88442121	Frame_Shift_Del	DEL	TAAG	TCGA-Z6-AAPN-01A-11D-A403-09	5690075	88442121	45409774	310	45987											
ATP2B1	490	genome.wustl.edu	37	chr12	90003718	90003718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagtaaattcttaccattGcaaatccaacatctgctttc	13	14	4	10	0	2	1	0	1	2	0	4	1	3	1	2	0	4	3	2	0	5	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:90003718G>C	ENST00000428670.3	-	15	2894	c.2438C>G	c.(2437-2439)gCa>gGa	p.A813G	ATP2B1_ENST00000393164.2_Missense_Mutation_p.A556G|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A813G|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A813G|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A813G			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	813					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						TCTTACCATTGCAAATCCAAC	0.358																																																	0													115	103	107					12																	90003718		2203	4300	6503	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2438C>G	12.37:g.90003718G>C	ENSP00000392043:p.Ala813Gly		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.A813G	ENST00000428670.3	37	c.2438	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.212677	0.95069	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99052	0.9675	H	0.95645	3.7	0.80722	D	1	P;P;P	0.51537	0.882;0.899;0.946	P;P;P	0.52066	0.477;0.689;0.689	D	0.99663	1.0994	10	0.87932	D	0	-25.2593	20.3431	0.98773	0.0:0.0:1.0:0.0	.	813;813;813	P20020-3;P20020-2;P20020-6	.;.;.	G	813;813;813;813;556	ENSP00000261173:A813G;ENSP00000343599:A813G;ENSP00000352054:A813G;ENSP00000392043:A813G;ENSP00000376869:A556G	ENSP00000261173:A813G	A	-	2	0	ATP2B1	88527849	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GCA	ATP2B1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000070961		0.358	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	-	0	59	0	G	NM_001682		90003718	-1	tier1	-	no_errors	ENST00000261173	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	C	C	90003718	G	C	90003718	3	2	184	1	0	0	0	0	1	0	0	0	1140	1319	46	5	1410	5	ATP2B1	12	90003718	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1561597	90003718	43848177	311	45988											
ANKS1B	56899	genome.wustl.edu	37	chr12	99447069	99447069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaggtgggatggtagccatCatgcccaatgggtctcatct	9	10	13	9	0	3	1	2	0	2	1	4	2	3	2	2	4	2	1	2	4	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:99447069C>T	ENST00000547776.2	-	17	2643	c.2644G>A	c.(2644-2646)Gat>Aat	p.D882N	ANKS1B_ENST00000546568.1_Missense_Mutation_p.D108N|ANKS1B_ENST00000549025.2_Missense_Mutation_p.D51N|ANKS1B_ENST00000547446.1_Missense_Mutation_p.D77N|ANKS1B_ENST00000549493.2_Missense_Mutation_p.D108N|ANKS1B_ENST00000549558.2_Missense_Mutation_p.D108N|ANKS1B_ENST00000546960.1_Missense_Mutation_p.D108N|ANKS1B_ENST00000329257.7_Missense_Mutation_p.D882N|ANKS1B_ENST00000332712.7_Missense_Mutation_p.D108N|ANKS1B_ENST00000550693.2_Missense_Mutation_p.D108N|ANKS1B_ENST00000547010.1_Missense_Mutation_p.D458N	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	882						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)		TGGTAGCCATCATGCCCAATG	0.418																																																	0													47	45	46					12																	99447069		1907	4141	6048	SO:0001583	missense	0			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.2644G>A	12.37:g.99447069C>T	ENSP00000449629:p.Asp882Asn		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.D882N	ENST00000547776.2	37	c.2644	CCDS55872.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.58|18.58	3.654481|3.654481	0.67472|0.67472	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960;ENST00000552245|ENST00000550778	D;D;D;D;D;D;D;D;D;D;D|.	0.82433|.	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);|.	0.056966|.	0.64402|.	D|.	0.000002|.	T|T	0.77532|0.77532	0.4144|0.4144	M|M	0.76328|0.76328	2.33|2.33	0.52501|0.52501	D|D	0.999959|0.999959	P;P;P;B;B;B;P;D;B;D;B|.	0.76494|.	0.945;0.606;0.884;0.283;0.218;0.038;0.884;0.999;0.298;0.982;0.146|.	D;P;P;P;P;B;P;D;B;D;B|.	0.81914|.	0.975;0.597;0.701;0.52;0.448;0.378;0.629;0.99;0.378;0.995;0.337|.	T|T	0.75557|0.75557	-0.3276|-0.3276	10|5	0.51188|.	T|.	0.08|.	-15.3904|-15.3904	18.8244|18.8244	0.92111|0.92111	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	77;108;108;108;96;108;108;51;458;882;108|.	F8VPM3;Q7Z6G8-4;Q7Z6G8-5;F8VZ47;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7|.	.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.|.	N|I	108;882;458;882;457;108;51;108;77;108;108;44;108;108|153	ENSP00000448993:D108N;ENSP00000449629:D882N;ENSP00000448512:D458N;ENSP00000331381:D882N;ENSP00000447999:D108N;ENSP00000447312:D51N;ENSP00000448203:D108N;ENSP00000450015:D77N;ENSP00000448205:D108N;ENSP00000332683:D108N;ENSP00000447839:D108N|.	ENSP00000331381:D882N|.	D|M	-|-	1|3	0|0	ANKS1B|ANKS1B	97971200|97971200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.085000|7.085000	0.76875|0.76875	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	GAT|ATG	ANKS1B	-	superfamily_SAM/pointed,smart_SAM	ENSG00000185046		0.418	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	-	0	59	0	C	NM_020140		99447069	-1	tier1	-	no_errors	ENST00000329257	ensembl	human	known	74_37	missense	16.42	56	11	SNP	1.000	T	T	99447069	C	T	99447069	3	4	184	1	0	0	0	0	1	0	0	0	689	826	29	3	1333	3	ANKS1B	12	99447069	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	9443351	99447069	34404826	312	45989											
MYBPC1	4604	genome.wustl.edu	37	chr12	102061578	102061578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccatcacaggtctgccaAcagatgcaaagatctttgtg	12	10	8	11	0	4	2	2	0	2	2	4	2	4	2	2	1	3	1	2	1	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:102061578A>G	ENST00000550270.1	+	22	2404	c.2404A>G	c.(2404-2406)Aca>Gca	p.T802A	MYBPC1_ENST00000545503.2_Missense_Mutation_p.T784A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.T685A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.T765A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.T772A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000549145.1_Missense_Mutation_p.T815A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.T809A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.T770A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.T758A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.T771A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.T802A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.T784A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.T802A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.T809A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.T802A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	802	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGGTCTGCCAACAGATGCAAA	0.458																																																	0													106	92	97					12																	102061578		2203	4300	6503	SO:0001583	missense	0				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.2404A>G	12.37:g.102061578A>G	ENSP00000449702:p.Thr802Ala		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T809A	ENST00000550270.1	37	c.2425	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	A	8.860	0.946805	0.18356	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	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	5.73	5.73	0.89815	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.116058	0.38381	N	0.001715	T	0.49184	0.1542	N	0.17872	0.535	0.18873	N	0.999988	B;P;B;B;B;B;P;B;P;P	0.45672	0.116;0.735;0.326;0.418;0.413;0.151;0.548;0.059;0.864;0.619	B;P;P;B;B;B;B;B;P;B	0.48815	0.16;0.519;0.577;0.141;0.265;0.263;0.384;0.214;0.591;0.281	T	0.51196	-0.8736	10	0.72032	D	0.01	.	16.0325	0.80588	1.0:0.0:0.0:0.0	.	765;772;802;784;771;758;784;802;809;809	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	A	758;802;802;802;771;770;809;815;784;784;765;772;809;685;802	ENSP00000448175:T758A;ENSP00000400908:T802A;ENSP00000388989:T802A;ENSP00000353822:T802A;ENSP00000376665:T771A;ENSP00000447362:T770A;ENSP00000354845:T809A;ENSP00000447660:T815A;ENSP00000447900:T784A;ENSP00000440034:T784A;ENSP00000446128:T765A;ENSP00000442847:T772A;ENSP00000354849:T809A;ENSP00000447116:T685A;ENSP00000449702:T802A	ENSP00000353822:T802A	T	+	1	0	MYBPC1	100585709	0.812000	0.29077	0.034000	0.17996	0.004000	0.04260	3.768000	0.55295	2.180000	0.69256	0.528000	0.53228	ACA	MYBPC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196091		0.458	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	-	0	49	0	A			102061578	1	tier1	-	no_errors	ENST00000361466	ensembl	human	known	74_37	missense	20.75	42	11	SNP	0.211	G	G	102061578	A	G	102061578	3	3	184	1	0	0	0	0	1	0	0	0	10049	43	2	4	2573	4	MYBPC1	12	102061578	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	2614509	102061578	31790317	313	45990											
GNPTAB	79158	genome.wustl.edu	37	chr12	102158669	102158669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcatgtctcttaaacttcgGgaagcgtttttctttgggaa	9	16	9	7	2	3	0	1	0	2	0	5	2	3	2	0	2	2	1	0	2	4	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:102158669G>T	ENST00000299314.7	-	13	2288	c.2026C>A	c.(2026-2028)Ccg>Acg	p.P676T	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	676					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						TTAAACTTCGGGAAGCGTTTT	0.423																																																	0													61	62	62					12																	102158669		2203	4300	6503	SO:0001583	missense	0			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.2026C>A	12.37:g.102158669G>T	ENSP00000299314:p.Pro676Thr		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom	p.P676T	ENST00000299314.7	37	c.2026	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849699	0.71603	.	.	ENSG00000111670	ENST00000299314	D	0.96619	-4.07	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.96962	0.9008	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	D	0.97391	0.9989	10	0.87932	D	0	-17.1193	20.422	0.99049	0.0:0.0:1.0:0.0	.	676	Q3T906	GNPTA_HUMAN	T	676	ENSP00000299314:P676T	ENSP00000299314:P676T	P	-	1	0	GNPTAB	100682800	1.000000	0.71417	0.995000	0.50966	0.211000	0.24417	9.117000	0.94347	2.832000	0.97577	0.655000	0.94253	CCG	GNPTAB	-	NULL	ENSG00000111670		0.423	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1		0	53	0	G			102158669	-1			no_errors	ENST00000299314	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	102158669	G	T	102158669	3	4	184	1	0	0	0	0	1	0	0	0	6571	1232	43	3	1780	3	GNPTAB	12	102158669	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	97091	102158669	31693226	314	45991											
ACAD10	80724	genome.wustl.edu	37	chr12	112143731	112143731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctggaccggaaacagtttGatgtggtaagcttgagctaa	11	10	12	8	1	0	2	0	2	0	0	0	4	0	4	2	3	3	4	2	3	3	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:112143731G>C	ENST00000313698.4	+	4	681	c.526G>C	c.(526-528)Gat>Cat	p.D176H	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.D176H|ACAD10_ENST00000455480.2_Missense_Mutation_p.D176H|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	176						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GAAACAGTTTGATGTGGTAAG	0.433																																																	0													84	83	83					12																	112143731		2203	4300	6503	SO:0001583	missense	0			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.526G>C	12.37:g.112143731G>C	ENSP00000325137:p.Asp176His		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA	p.D176H	ENST00000313698.4	37	c.526	CCDS31903.1	12	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681100	0.88542	.	.	ENSG00000111271	ENST00000509936;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000507135;ENST00000313698	T;T;T	0.09538	2.97;2.97;2.97	5.98	5.98	0.97165	Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.64402	D	0.000008	T	0.49389	0.1554	H	0.95294	3.65	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	0.992;1.0;1.0;0.999;1.0	T	0.62826	-0.6772	10	0.87932	D	0	.	20.0243	0.97517	0.0:0.0:1.0:0.0	.	176;176;176;176;176	G3XAJ0;F8VZG7;Q6JQN1;Q6JQN1-2;Q6JQN1-4	.;.;ACD10_HUMAN;.;.	H	176	ENSP00000446959:D176H;ENSP00000389813:D176H;ENSP00000325137:D176H	ENSP00000325137:D176H	D	+	1	0	ACAD10	110628114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.204000	0.65180	2.833000	0.97629	0.655000	0.94253	GAT	ACAD10	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA	ENSG00000111271		0.433	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	HGNC	protein_coding	OTTHUMT00000368307.1	-	0	50	0	G	NM_025247		112143731	1	tier1	-	no_errors	ENST00000455480	ensembl	human	known	74_37	missense	52.31	31	34	SNP	1.000	C	C	112143731	G	C	112143731	3	2	184	1	0	0	0	0	1	0	0	0	108	1290	45	5	536	5	ACAD10	12	112143731	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	9985062	112143731	21708164	315	45992											
GPR81	27198	genome.wustl.edu	37	chr12	123214080	123214080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggatccagcatgctgttCatgtaggtgaagctgagggt	9	10	16	6	0	1	2	1	2	0	0	2	3	2	3	1	4	3	5	1	4	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:123214080C>T	ENST00000436083.2	-	1	1310	c.807G>A	c.(805-807)atG>atA	p.M269I	HCAR1_ENST00000432564.1_Missense_Mutation_p.M269I|HCAR1_ENST00000356987.2_Missense_Mutation_p.M269I			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	269					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GCATGCTGTTCATGTAGGTGA	0.522																																																	0													98	98	98					12																	123214080		2203	4300	6503	SO:0001583	missense	0			AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	4532	protein-coding gene	gene with protein product	"lactate receptor 1"	606923	"G protein-coupled receptor 104", "G protein-coupled receptor 81"	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.807G>A	12.37:g.123214080C>T	ENSP00000409980:p.Met269Ile		B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.M269I	ENST00000436083.2	37	c.807	CCDS9236.1	12	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414821	0.42817	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.34275	1.37;1.37;1.37	5.77	1.84	0.25277	GPCR, rhodopsin-like superfamily (1);	0.502751	0.21551	N	0.072731	T	0.23886	0.0578	L	0.31845	0.965	0.31819	N	0.626274	B	0.12013	0.005	B	0.17979	0.02	T	0.14671	-1.0464	10	0.34782	T	0.22	-14.7802	6.6454	0.22933	0.0:0.6478:0.1295:0.2227	.	269	Q9BXC0	HCAR1_HUMAN	I	269	ENSP00000349478:M269I;ENSP00000389255:M269I;ENSP00000409980:M269I	ENSP00000349478:M269I	M	-	3	0	HCAR1	121780033	0.949000	0.32298	0.954000	0.39281	0.990000	0.78478	-0.079000	0.11357	0.066000	0.16515	0.655000	0.94253	ATG	HCAR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196917		0.522	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR1	HGNC	protein_coding	OTTHUMT00000401415.1	-	0	51	0	C			123214080	-1	tier1	-	no_errors	ENST00000356987	ensembl	human	known	74_37	missense	10.53	85	10	SNP	1.000	T	T	123214080	C	T	123214080	3	4	184	1	0	0	0	0	1	0	0	0	6737	826	29	3	237	3	GPR81	12	123214080	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	11070349	123214080	10637815	316	45993											
EP400	57634	genome.wustl.edu	37	chr12	132467003	132467003	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgcaggtgcaggcctctCagctttcctccctgccacag	6	9	11	15	0	1	0	1	0	1	0	4	0	3	0	4	3	4	3	4	3	0	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:132467003C>G	ENST00000333577.4	+	6	2126	c.2017C>G	c.(2017-2019)Cag>Gag	p.Q673E	EP400_ENST00000332482.4_Missense_Mutation_p.Q600E|EP400_ENST00000389561.2_Missense_Mutation_p.Q637E|EP400_ENST00000330386.6_Missense_Mutation_p.Q637E|EP400_ENST00000389562.2_Missense_Mutation_p.Q636E			Q96L91	EP400_HUMAN	E1A binding protein p400	673					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)		GCAGGCCTCTCAGCTTTCCTC	0.562																																																	0													47	47	47					12																	132467003		2203	4300	6503	SO:0001583	missense	0			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.2017C>G	12.37:g.132467003C>G	ENSP00000333602:p.Gln673Glu		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q673E	ENST00000333577.4	37	c.2017		12	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978918	0.34942	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89875	-2.58;-2.57;-2.56;-2.58;-2.56	5.52	5.52	0.82312	.	0.527307	0.20589	N	0.089386	D	0.87720	0.6248	L	0.46157	1.445	0.25275	N	0.98948	B;B;B;P;P	0.37663	0.287;0.287;0.287;0.477;0.604	B;B;B;B;B	0.39258	0.215;0.215;0.215;0.295;0.275	T	0.81682	-0.0822	10	0.45353	T	0.12	.	19.4488	0.94859	0.0:1.0:0.0:0.0	.	637;637;636;673;600	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	E	600;673;637;636;600;637;673;637;637	ENSP00000333602:Q673E;ENSP00000374212:Q637E;ENSP00000374213:Q636E;ENSP00000331737:Q600E;ENSP00000330620:Q637E	ENSP00000330620:Q637E	Q	+	1	0	EP400	131032956	0.926000	0.31397	0.189000	0.23252	0.807000	0.45602	5.695000	0.68279	2.586000	0.87340	0.655000	0.94253	CAG	EP400	-	NULL	ENSG00000183495		0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		-	0	26	0	C	NM_015409		132467003	1	tier1	-	no_errors	ENST00000333577	ensembl	human	known	74_37	missense	37.50	15	9	SNP	0.658	G	G	132467003	C	G	132467003	3	3	184	1	0	0	0	0	1	0	0	0	5165	827	29	5	1920	5	EP400	12	132467003	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	9252923	132467003	1384892	317	45994											
POLE	5426	genome.wustl.edu	37	chr12	133226308	133226308	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccccaagatttcctgccaGggcacagtcggcgtgaggtc	7	8	13	13	2	0	2	0	1	0	1	3	2	1	2	4	3	2	1	4	3	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr12:133226308G>T	ENST00000320574.5	-	30	3793	c.3750C>A	c.(3748-3750)ccC>ccA	p.P1250P	POLE_ENST00000535270.1_Silent_p.P1223P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1250					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)	TTTCCTGCCAGGGCACAGTCG	0.617								DNA polymerases (catalytic subunits)																																									0													119	116	117					12																	133226308		2203	4300	6503	SO:0001819	synonymous_variant	0				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.3750C>A	12.37:g.133226308G>T			Q13533|Q86VH9	Silent	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.P1250	ENST00000320574.5	37	c.3750	CCDS9278.1	12																																																																																			POLE	-	NULL	ENSG00000177084		0.617	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2		0	33	0	G	NM_006231		133226308	-1			no_errors	ENST00000320574	ensembl	human	known	74_37	silent	8.57	32	3	SNP	1.000	T	T	133226308	G	T	133226308	2	4	184	1	0	0	0	0	0	0	0	1	12235	987	35	3		3	POLE	12	133226308	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	759305	133226308	625587	318	45995											
TPTE2	93492	genome.wustl.edu	37	chr13	20039660	20039660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagcagatgaaaaattCttatcagaataataagtcgt	18	11	8	4	1	2	4	1	2	1	2	3	5	2	4	0	0	1	1	0	0	7	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr13:20039660C>A	ENST00000400230.2	-	8	601	c.557G>T	c.(556-558)aGa>aTa	p.R186I	TPTE2_ENST00000457266.2_Missense_Mutation_p.R75I|TPTE2_ENST00000382978.1_Missense_Mutation_p.R146I|TPTE2_ENST00000400103.2_Missense_Mutation_p.R75I|TPTE2_ENST00000390680.2_Missense_Mutation_p.R109I|TPTE2_ENST00000382975.4_Missense_Mutation_p.R146I|TPTE2_ENST00000255310.6_Missense_Mutation_p.R109I|TPTE2_ENST00000382977.4_Missense_Mutation_p.R186I			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	186					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.R109I(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)		ATGAAAAATTCTTATCAGAAT	0.299																																																	1	Substitution - Missense(1)	large_intestine(1)											42	41	42					13																	20039660		2202	4300	6502	SO:0001583	missense	0			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.557G>T	13.37:g.20039660C>A	ENSP00000383089:p.Arg186Ile		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R186I	ENST00000400230.2	37	c.557	CCDS45014.1	13	.	.	.	.	.	.	.	.	.	.	c	13.39	2.221794	0.39300	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.99637	-5.14;-3.6;-6.29;-5.14;-5.14;-6.29;-5.14;-3.6	2.79	2.79	0.32731	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99324	0.9763	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.987;0.999;1.0	D	0.98150	1.0441	9	.	.	.	-26.9199	9.2507	0.37554	0.0:1.0:0.0:0.0	.	75;109;186	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	I	146;75;186;109;109;186;146;75;186;55	ENSP00000372438:R146I;ENSP00000382974:R75I;ENSP00000383089:R186I;ENSP00000255310:R109I;ENSP00000375098:R109I;ENSP00000372437:R186I;ENSP00000372435:R146I;ENSP00000442218:R75I	.	R	-	2	0	TPTE2	18937660	1.000000	0.71417	0.210000	0.23637	0.216000	0.24613	3.108000	0.50337	1.846000	0.53633	0.467000	0.42956	AGA	TPTE2	-	pfam_Ion_trans_dom	ENSG00000132958		0.299	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding		-	0	130	0	C	NM_199254		20039660	-1	tier1	-	no_errors	ENST00000382977	ensembl	human	known	74_37	missense	11.89	163	22	SNP	0.987	A	A	20039660	C	A	20039660	3	1	184	1	0	0	0	0	1	0	0	0	16479	913	32	3	1063	3	TPTE2	13	20039660	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09		20039660	95130218	319	45996											
FRY	10129	genome.wustl.edu	37	chr13	32753865	32753865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagttggtgcctttgatGagactagagagcattgagat	12	11	13	5	0	0	4	0	3	0	3	0	7	0	4	1	1	3	3	1	1	2	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr13:32753865G>T	ENST00000380250.3	+	23	3421	c.2925G>T	c.(2923-2925)atG>atT	p.M975I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	975						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)		TGCCTTTGATGAGACTAGAGA	0.398																																																	0													207	196	199					13																	32753865		1888	4114	6002	SO:0001583	missense	0			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.2925G>T	13.37:g.32753865G>T	ENSP00000369600:p.Met975Ile		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M975I	ENST00000380250.3	37	c.2925	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067670	0.76301	.	.	ENSG00000073910	ENST00000380250	T	0.58940	0.3	6.03	6.03	0.97812	.	0.080879	0.85682	D	0.000000	T	0.53142	0.1778	L	0.36672	1.1	0.80722	D	1	P	0.36909	0.573	B	0.36885	0.235	T	0.50882	-0.8775	10	0.44086	T	0.13	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	975	Q5TBA9	FRY_HUMAN	I	975	ENSP00000369600:M975I	ENSP00000369600:M975I	M	+	3	0	FRY	31651865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.673000	0.98631	2.861000	0.98227	0.655000	0.94253	ATG	FRY	-	superfamily_ARM-type_fold	ENSG00000073910		0.398	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	-	0	37	0	G	NM_023037		32753865	1	tier1	-	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	32753865	G	T	32753865	3	4	184	1	0	0	0	0	1	0	0	0	6087	1290	45	3	3015	3	FRY	13	32753865	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	12714205	32753865	82416013	320	45997											
DCLK1	9201	genome.wustl.edu	37	chr13	36410271	36410271	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatctggaagccttcctcCgacacttctgaaagaatcat	12	10	8	11	1	3	2	1	1	2	1	5	5	5	4	3	2	1	0	3	2	4	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr13:36410271C>T	ENST00000360631.3	-	8	1339	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	DCLK1_ENST00000255448.4_Silent_p.S376S|DCLK1_ENST00000379893.1_Silent_p.S69S			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	376					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)		AGCCTTCCTCCGACACTTCTG	0.353																																																	0													192	183	186					13																	36410271		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1128G>A	13.37:g.36410271C>T			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.S376	ENST00000360631.3	37	c.1128		13																																																																																			DCLK1	-	superfamily_Kinase-like_dom	ENSG00000133083		0.353	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	-	0	64	0	C	NM_004734		36410271	-1	tier1	-	no_errors	ENST00000360631	ensembl	human	known	74_37	silent	11.11	72	9	SNP	0.917	T	T	36410271	C	T	36410271	2	4	184	1	0	0	0	0	0	0	0	1	4300	639	23	1		1	DCLK1	13	36410271	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3656406	36410271	78759607	321	45998											
ELF1	1997	genome.wustl.edu	37	chr13	41515340	41515340	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactctcgaccggctggtttGattcctatttgaagtggctg	6	15	11	9	2	1	2	0	2	1	0	3	3	2	2	2	3	1	3	2	3	3	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr13:41515340G>A	ENST00000239882.3	-	8	1287	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	ELF1_ENST00000442101.1_Nonsense_Mutation_p.Q301*|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	325					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CGGCTGGTTTGATTCCTATTT	0.418																																																	0													107	116	113					13																	41515340		2203	4300	6503	SO:0001587	stop_gained	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.973C>T	13.37:g.41515340G>A	ENSP00000239882:p.Gln325*		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Nonsense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.Q325*	ENST00000239882.3	37	c.973	CCDS9374.1	13	.	.	.	.	.	.	.	.	.	.	G	32	5.182311	0.94885	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	.	.	.	5.47	4.61	0.57282	.	0.188682	0.47093	D	0.000245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	16.5513	0.84473	0.0:0.1309:0.8691:0.0	.	.	.	.	X	301;67;325	.	ENSP00000239882:Q325X	Q	-	1	0	ELF1	40413340	1.000000	0.71417	0.984000	0.44739	0.003000	0.03518	6.565000	0.73974	1.427000	0.47276	-0.175000	0.13238	CAA	ELF1	-	NULL	ENSG00000120690		0.418	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	HGNC	protein_coding	OTTHUMT00000044654.3	-	0	52	0	G	NM_172373		41515340	-1	tier1	-	no_errors	ENST00000239882	ensembl	human	known	74_37	nonsense	25.00	44	15	SNP	1.000	A	A	41515340	G	A	41515340	4	1	184	1	0	0	0	0	0	1	0	0	5069	1299	45	3	894	3	ELF1	13	41515340	Nonsense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	5105069	41515340	73654538	322	45999											
MYCBP2	23077	genome.wustl.edu	37	chr13	77671764	77671764	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattctgggaagcagctttGatagtagccaaagagatgtc	13	11	11	6	0	1	2	0	1	1	1	2	4	1	3	1	1	3	3	1	1	5	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr13:77671764G>C	ENST00000544440.2	-	56	9428	c.9411C>G	c.(9409-9411)atC>atG	p.I3137M	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.I3137M|MYCBP2_ENST00000407578.2_Missense_Mutation_p.I3175M|MYCBP2_ENST00000482517.1_5'Flank					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)		AAGCAGCTTTGATAGTAGCCA	0.373																																																	0													67	64	65					13																	77671764		2203	4300	6503	SO:0001583	missense	0			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.9411C>G	13.37:g.77671764G>C	ENSP00000444596:p.Ile3137Met			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.I3175M	ENST00000544440.2	37	c.9525		13	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785834	0.31593	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31510	1.49;1.49;1.49	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	L	0.36672	1.1	0.47276	D	0.999377	D;D;D	0.71674	0.998;0.997;0.989	D;D;P	0.77004	0.983;0.989;0.735	T	0.31641	-0.9936	10	0.72032	D	0.01	.	8.6147	0.33824	0.0812:0.0:0.7657:0.1531	.	523;3137;3137	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	M	3137;3175;3137	ENSP00000349892:I3137M;ENSP00000384288:I3175M;ENSP00000444596:I3137M	ENSP00000349892:I3137M	I	-	3	3	MYCBP2	76569765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.790000	0.38734	2.716000	0.92895	0.655000	0.94253	ATC	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.373	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	47	0	G	NM_015057		77671764	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	23.53	51	16	SNP	1.000	C	C	77671764	G	C	77671764	3	2	184	1	0	0	0	0	1	0	0	0	10056	1280	45	5	4623	5	MYCBP2	13	77671764	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	36156424	77671764	37498114	323	46000											
GPC6	10082	genome.wustl.edu	37	chr13	93879852	93879852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attcagcctggcggacatccCctaccaggagatcgcaggta	10	7	11	13	2	1	1	1	0	0	1	3	3	2	2	4	4	2	2	4	4	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr13:93879852C>T	ENST00000377047.4	+	1	758	c.143C>T	c.(142-144)cCc>cTc	p.P48L		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	48					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)				GCGGACATCCCCTACCAGGAG	0.721											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29	29	29					13																	93879852		2201	4297	6498	SO:0001583	missense	0			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.143C>T	13.37:g.93879852C>T	ENSP00000366246:p.Pro48Leu	1301	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.P48L	ENST00000377047.4	37	c.143	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617262	0.87359	.	.	ENSG00000183098	ENST00000377047	T	0.57436	0.4	5.36	5.36	0.76844	.	0.219588	0.29152	N	0.012984	T	0.76898	0.4052	M	0.87180	2.865	0.58432	D	0.99999	D;D	0.62365	0.991;0.973	P;D	0.71414	0.828;0.973	T	0.80317	-0.1433	10	0.59425	D	0.04	.	18.7056	0.91637	0.0:1.0:0.0:0.0	.	48;48	B4E2M1;Q9Y625	.;GPC6_HUMAN	L	48	ENSP00000366246:P48L	ENSP00000366246:P48L	P	+	2	0	GPC6	92677853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.679000	0.68160	2.527000	0.85204	0.655000	0.94253	CCC	GPC6	-	pfam_Glypican	ENSG00000183098		0.721	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	-	0	20	0	C	NM_005708		93879852	1	tier1	-	no_errors	ENST00000377047	ensembl	human	known	74_37	missense	46.67	8	7	SNP	1.000	T	T	93879852	C	T	93879852	3	4	184	1	0	0	0	0	1	0	0	0	6628	623	22	3	145	3	GPC6	13	93879852	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	16208088	93879852	21290026	324	46001											
GPR180	160897	genome.wustl.edu	37	chr13	95271749	95271749	+	Silent	SNP	A	A	C	1	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	aaagatggaataggggtaccAtttatgggaagtttggcaga	14	10	14	3	0	0	2	0	0	0	2	0	4	0	4	1	5	1	3	1	5	6	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr13:95271749A>C	ENST00000376958.4	+	5	739	c.714A>C	c.(712-714)ccA>ccC	p.P238P		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	238					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TAGGGGTACCATTTATGGGAA	0.303																																																	0													118	118	118					13																	95271749		2203	4299	6502	SO:0001819	synonymous_variant	0			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"intimal thickness related receptor"	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.714A>C	13.37:g.95271749A>C			A8K1D5	Silent	SNP	pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk	p.P238	ENST00000376958.4	37	c.714	CCDS9472.1	13																																																																																			GPR180	-	pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk	ENSG00000152749		0.303	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR180	HGNC	protein_coding	OTTHUMT00000045465.3	-	0	55	0	A	NM_180989		95271749	1	tier1	-	no_errors	ENST00000376958	ensembl	human	known	74_37	silent	17.57	61	13	SNP	1.000	C	C	95271749	A	C	95271749	2	2	184	1	0	0	0	0	0	0	0	1	6702	204	8	4		4	GPR180	13	95271749	Silent	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	1391897	95271749	19898129	325	46002											
ABCC4	10257	genome.wustl.edu	37	chr13	95858835	95858835	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgacaccctctcaatggctGaggggaagaagagggtaacc	12	6	13	10	0	1	4	1	2	1	2	2	5	1	5	2	4	1	2	2	4	4	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr13:95858835G>C	ENST00000376887.4	-	8	1226	c.1112C>G	c.(1111-1113)tCa>tGa	p.S371*	ABCC4_ENST00000431522.1_Nonsense_Mutation_p.S371*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.S371*|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.S296*|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	371	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CTCAATGGCTGAGGGGAAGAA	0.537																																																	0													91	82	85					13																	95858835		2203	4300	6503	SO:0001587	stop_gained	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1112C>G	13.37:g.95858835G>C	ENSP00000366084:p.Ser371*		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM	p.S371*	ENST00000376887.4	37	c.1112	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	G	31	5.065740	0.93898	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	.	.	.	5.34	5.34	0.76211	.	1.471380	0.03819	N	0.267215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	18.6246	0.91333	0.0:0.0:1.0:0.0	.	.	.	.	X	371;371;296;371	.	ENSP00000366084:S371X	S	-	2	0	ABCC4	94656836	0.019000	0.18553	0.128000	0.21923	0.345000	0.29048	2.007000	0.40883	2.471000	0.83476	0.655000	0.94253	TCA	ABCC4	-	superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM	ENSG00000125257		0.537	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	-	0	28	0	G	NM_005845		95858835	-1	tier1	-	no_errors	ENST00000376887	ensembl	human	known	74_37	nonsense	17.86	23	5	SNP	0.058	C	C	95858835	G	C	95858835	4	2	184	1	0	0	0	0	0	1	0	0	55	1294	45	5	3010	5	ABCC4	13	95858835	Nonsense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	587086	95858835	19311043	326	46003											
TMTC4	84899	genome.wustl.edu	37	chr13	101266675	101266675	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatccacgtggcgattgaGatctgcatactgaaaataaa	14	9	10	8	2	1	2	0	2	1	1	2	4	2	2	1	2	2	2	1	2	5	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr13:101266675G>C	ENST00000376234.3	-	15	1978	c.1789C>G	c.(1789-1791)Ctc>Gtc	p.L597V	TMTC4_ENST00000328767.5_Missense_Mutation_p.L486V|TMTC4_ENST00000342624.5_Missense_Mutation_p.L616V	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	597						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)					TGGCGATTGAGATCTGCATAC	0.398																																																	0													132	117	122					13																	101266675		2203	4300	6503	SO:0001583	missense	0				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.1789C>G	13.37:g.101266675G>C	ENSP00000365408:p.Leu597Val		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L616V	ENST00000376234.3	37	c.1846	CCDS41904.1	13	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308884	0.40895	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.64438	-0.1;-0.1;-0.1	5.53	4.56	0.56223	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.139379	0.47852	D	0.000205	T	0.65165	0.2665	M	0.62088	1.915	0.39374	D	0.966138	P;P;P	0.48294	0.908;0.605;0.72	P;B;B	0.51101	0.659;0.309;0.34	T	0.64457	-0.6403	10	0.33141	T	0.24	.	9.9816	0.41817	0.1522:0.0:0.8478:0.0	.	486;597;616	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	V	597;616;486	ENSP00000365408:L597V;ENSP00000343871:L616V;ENSP00000365409:L486V	ENSP00000365409:L486V	L	-	1	0	TMTC4	100064676	1.000000	0.71417	0.942000	0.38095	0.466000	0.32739	4.211000	0.58507	2.587000	0.87381	0.561000	0.74099	CTC	TMTC4	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000125247		0.398	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	HGNC	protein_coding	OTTHUMT00000045649.2	-	0	48	0	G	NM_032813		101266675	-1	tier1	-	no_errors	ENST00000342624	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.983	C	C	101266675	G	C	101266675	3	2	184	1	0	0	0	0	1	0	0	0	16310	942	33	5	452	5	TMTC4	13	101266675	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	5407840	101266675	13903203	327	46004											
EFNB2	1948	genome.wustl.edu	37	chr13	107187251	107187251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgatttggaaatcgcagttCtgcataaaaccatcaaaaca	16	10	6	9	2	2	0	1	0	1	0	4	2	2	1	1	1	3	3	1	1	5	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr13:107187251C>G	ENST00000245323.4	-	1	211	c.62G>C	c.(61-63)aGa>aCa	p.R21T		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	21					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AATCGCAGTTCTGCATAAAAC	0.552																																																	0													90	96	94					13																	107187251		2202	4300	6502	SO:0001583	missense	0			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.62G>C	13.37:g.107187251C>G	ENSP00000245323:p.Arg21Thr		Q5JV56	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.R21T	ENST00000245323.4	37	c.62	CCDS9507.1	13	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265833	0.40095	.	.	ENSG00000125266	ENST00000245323	D	0.90504	-2.68	4.27	3.42	0.39159	.	0.598302	0.18765	N	0.131762	D	0.86493	0.5946	L	0.58101	1.795	0.34586	D	0.714966	B	0.26258	0.145	B	0.23716	0.048	T	0.82080	-0.0634	10	0.11182	T	0.66	.	12.0318	0.53401	0.0:0.9141:0.0:0.0859	.	21	P52799	EFNB2_HUMAN	T	21	ENSP00000245323:R21T	ENSP00000245323:R21T	R	-	2	0	EFNB2	105985252	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	3.675000	0.54605	0.795000	0.33922	0.456000	0.33151	AGA	EFNB2	-	NULL	ENSG00000125266		0.552	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB2	HGNC	protein_coding	OTTHUMT00000045733.4	-	0	95	0	C	NM_004093		107187251	-1	tier1	-	no_errors	ENST00000245323	ensembl	human	known	74_37	missense	25.68	110	38	SNP	1.000	G	G	107187251	C	G	107187251	3	3	184	1	0	0	0	0	1	0	0	0	4970	913	32	5	959	5	EFNB2	13	107187251	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	5920576	107187251	7982627	328	46005											
COL4A2	1284	genome.wustl.edu	37	chr13	111117830	111117830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggtactccaggagaaatgGgccccccaggactgggcctt	9	6	14	12	0	0	1	0	0	0	1	1	3	1	2	5	5	1	1	5	5	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr13:111117830G>C	ENST00000360467.5	+	25	2161	c.1855G>C	c.(1855-1857)Ggc>Cgc	p.G619R	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	619	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)			AGGAGAAATGGGCCCCCCAGG	0.607																																																	0													36	40	39					13																	111117830		1820	4079	5899	SO:0001583	missense	0			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.1855G>C	13.37:g.111117830G>C	ENSP00000353654:p.Gly619Arg		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G619R	ENST00000360467.5	37	c.1855	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769911	0.31320	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99537	-6.11	4.65	4.65	0.58169	.	0.000000	0.51477	D	0.000098	D	0.99687	0.9882	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97383	0.9984	10	0.87932	D	0	.	17.1381	0.86745	0.0:0.0:1.0:0.0	.	619	P08572	CO4A2_HUMAN	R	619	ENSP00000353654:G619R	ENSP00000257309:G619R	G	+	1	0	COL4A2	109915831	1.000000	0.71417	0.157000	0.22605	0.011000	0.07611	4.603000	0.61105	2.136000	0.66102	0.462000	0.41574	GGC	COL4A2	-	NULL	ENSG00000134871		0.607	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	-	0	102	0	G	NM_001846		111117830	1	tier1	-	no_errors	ENST00000360467	ensembl	human	known	74_37	missense	12.05	73	10	SNP	0.978	C	C	111117830	G	C	111117830	3	2	184	1	0	0	0	0	1	0	0	0	3697	1232	43	5	1949	5	COL4A2	13	111117830	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3930579	111117830	4052048	329	46006											
UPF3A	65110	genome.wustl.edu	37	chr13	115067486	115067486	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcacccagaaaagagCgactggcaaacaaggttttt	14	7	10	10	1	0	2	0	0	0	2	1	3	1	2	2	2	3	3	2	2	4	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr13:115067486C>T	ENST00000375299.3	+	9	1344	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Nonsense_Mutation_p.R397*	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	430	Required for association with EIF4A3 and ECJ core components CASC3, MAGOH and RBM8A.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	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)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		CAGAAAAGAGCGACTGGCAAA	0.552																																																	0													22	29	27					13																	115067486		2168	4273	6441	SO:0001587	stop_gained	0			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.1288C>T	13.37:g.115067486C>T	ENSP00000364448:p.Arg430*		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Nonsense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.R430*	ENST00000375299.3	37	c.1288	CCDS9543.1	13	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135651	0.37728	.	.	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	.	.	.	5.05	-0.0725	0.13739	.	0.325090	0.31188	N	0.008099	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	3.0609	3.1313	0.06424	0.1247:0.5522:0.1211:0.202	.	.	.	.	X	430;397;162	.	.	R	+	1	2	UPF3A	114085588	0.971000	0.33674	0.000000	0.03702	0.067000	0.16453	0.481000	0.22260	-0.291000	0.09012	0.655000	0.94253	CGA	UPF3A	-	NULL	ENSG00000169062		0.552	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	HGNC	protein_coding	OTTHUMT00000045968.2		0	29	0	C			115067486	1			no_errors	ENST00000375299	ensembl	human	known	74_37	nonsense	6.00	47	3	SNP	0.460	T	T	115067486	C	T	115067486	4	4	184	1	0	0	0	0	0	1	0	0	17054	760	27	1	1322	1	UPF3A	13	115067486	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3949656	115067486	102392	330	46007											
RPL10L	140801	genome.wustl.edu	37	chr14	47120658	47120658	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgttgatgcggatgacatgGaagggatggagccgcactcg	9	9	16	7	3	0	2	0	2	0	0	1	6	0	6	1	4	2	2	1	4	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr14:47120658G>C	ENST00000298283.3	-	1	370	c.282C>G	c.(280-282)ttC>ttG	p.F94L		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	94					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GGATGACATGGAAGGGATGGA	0.547																																																	0													69	67	68					14																	47120658		2203	4300	6503	SO:0001583	missense	0			AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.282C>G	14.37:g.47120658G>C	ENSP00000298283:p.Phe94Leu		Q8IUD1	Missense_Mutation	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	p.F94L	ENST00000298283.3	37	c.282	CCDS32071.1	14	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734289	0.69189	.	.	ENSG00000165496	ENST00000298283	T	0.76968	-1.06	4.17	4.17	0.49024	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	D	0.000000	D	0.89726	0.6798	M	0.92169	3.28	0.80722	D	1	P	0.47604	0.898	D	0.63597	0.916	D	0.91604	0.5297	10	0.66056	D	0.02	-37.1443	14.7976	0.69889	0.0:0.0:1.0:0.0	.	94	Q96L21	RL10L_HUMAN	L	94	ENSP00000298283:F94L	ENSP00000298283:F94L	F	-	3	2	RPL10L	46190408	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.347000	0.52200	2.608000	0.88229	0.655000	0.94253	TTC	RPL10L	-	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	ENSG00000165496		0.547	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10L	HGNC	protein_coding	OTTHUMT00000349819.1	-	0	51	0	G			47120658	-1	tier1	-	no_errors	ENST00000298283	ensembl	human	known	74_37	missense	31.67	41	19	SNP	1.000	C	C	47120658	G	C	47120658	3	2	184	1	0	0	0	0	1	0	0	0	13601	1165	41	5	366	5	RPL10L	14	47120658	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09		47120658	60228882	331	46008											
SIX4	51804	genome.wustl.edu	37	chr14	61190785	61190785	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgcccggtgggggaggaaGaggacattttttgttgttta	7	14	15	5	1	1	1	0	0	1	1	1	4	1	4	1	5	1	2	1	5	2	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr14:61190785G>C	ENST00000216513.4	-	1	67	c.8C>G	c.(7-9)tCt>tGt	p.S3C		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	3					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)		GGGGGAGGAAGAGGACATTTT	0.562																																																	0													69	76	74					14																	61190785		2172	4278	6450	SO:0001583	missense	0			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.8C>G	14.37:g.61190785G>C	ENSP00000216513:p.Ser3Cys		Q4QQH5|Q4V764	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S3C	ENST00000216513.4	37	c.8	CCDS9749.2	14	.	.	.	.	.	.	.	.	.	.	g	14.87	2.663410	0.47572	.	.	ENSG00000100625	ENST00000216513	D	0.91686	-2.89	3.52	2.61	0.31194	.	.	.	.	.	D	0.85500	0.5711	N	0.14661	0.345	0.80722	D	1	D	0.64830	0.994	P	0.48189	0.57	D	0.83595	0.0125	9	0.66056	D	0.02	.	7.2631	0.26214	0.092:0.0:0.7383:0.1698	.	3	Q9UIU6	SIX4_HUMAN	C	3	ENSP00000216513:S3C	ENSP00000216513:S3C	S	-	2	0	SIX4	60260538	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.770000	0.85390	0.805000	0.34159	0.290000	0.19541	TCT	SIX4	-	NULL	ENSG00000100625		0.562	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	HGNC	protein_coding	OTTHUMT00000072397.2		0	9	0	G			61190785	-1			no_errors	ENST00000216513	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	C	C	61190785	G	C	61190785	3	2	184	1	0	0	0	0	1	0	0	0	14394	942	33	5	2349	5	SIX4	14	61190785	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	14070127	61190785	46158755	332	46009											
KCNK13	56659	genome.wustl.edu	37	chr14	90650533	90650533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttgttgggtgttccagcaCcatcttgttcttcaacctct	5	16	7	13	0	4	0	1	0	3	0	5	0	5	0	4	1	2	4	4	1	1	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr14:90650533C>G	ENST00000282146.4	+	2	854	c.413C>G	c.(412-414)aCc>aGc	p.T138S		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	138					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGTTCCAGCACCATCTTGTTC	0.537																																																	0													109	116	114					14																	90650533		2203	4300	6503	SO:0001583	missense	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.413C>G	14.37:g.90650533C>G	ENSP00000282146:p.Thr138Ser		B5TJL8|Q96E79	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.T138S	ENST00000282146.4	37	c.413	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366429	0.61513	.	.	ENSG00000152315	ENST00000282146	T	0.31510	1.49	5.31	5.31	0.75309	Ion transport 2 (1);	0.000000	0.42548	D	0.000684	T	0.42245	0.1194	L	0.60845	1.875	0.80722	D	1	P	0.37370	0.592	P	0.48488	0.579	T	0.12578	-1.0542	10	0.08837	T	0.75	.	18.9479	0.92628	0.0:1.0:0.0:0.0	.	138	Q9HB14	KCNKD_HUMAN	S	138	ENSP00000282146:T138S	ENSP00000282146:T138S	T	+	2	0	KCNK13	89720286	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	5.988000	0.70579	2.476000	0.83614	0.655000	0.94253	ACC	KCNK13	-	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK	ENSG00000152315		0.537	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1		0	15	0	C	NM_022054		90650533	1			no_errors	ENST00000282146	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	G	G	90650533	C	G	90650533	3	3	184	1	0	0	0	0	1	0	0	0	8088	507	18	5	419	5	KCNK13	14	90650533	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	29459748	90650533	16699007	333	46010											
KCNK13	56659	genome.wustl.edu	37	chr14	90650758	90650758	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcatctcttgctgcgcctCagccatgtacacccccattg	6	11	6	18	1	3	0	2	0	1	0	4	0	3	0	5	0	4	2	5	0	1	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr14:90650758C>G	ENST00000282146.4	+	2	1079	c.638C>G	c.(637-639)tCa>tGa	p.S213*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	213					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGCTGCGCCTCAGCCATGTAC	0.567																																																	0													164	139	148					14																	90650758		2203	4300	6503	SO:0001587	stop_gained	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.638C>G	14.37:g.90650758C>G	ENSP00000282146:p.Ser213*		B5TJL8|Q96E79	Nonsense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.S213*	ENST00000282146.4	37	c.638	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.963849	0.97151	.	.	ENSG00000152315	ENST00000282146	.	.	.	5.31	4.42	0.53409	.	0.218239	0.23498	N	0.047529	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.9782	0.64285	0.0:0.9262:0.0:0.0738	.	.	.	.	X	213	.	ENSP00000282146:S213X	S	+	2	0	KCNK13	89720511	1.000000	0.71417	0.008000	0.14137	0.295000	0.27426	6.072000	0.71238	1.234000	0.43709	0.655000	0.94253	TCA	KCNK13	-	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK	ENSG00000152315		0.567	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1	-	0	28	0	C	NM_022054		90650758	1	tier1	-	no_errors	ENST00000282146	ensembl	human	known	74_37	nonsense	36.84	12	7	SNP	0.997	G	G	90650758	C	G	90650758	4	3	184	1	0	0	0	0	0	1	0	0	8088	838	29	5	644	5	KCNK13	14	90650758	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	225	90650758	16698782	334	46011											
DDX24	57062	genome.wustl.edu	37	chr14	94545833	94545833	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agactttccctcctcctcctCctcttcttctgaaacagctt	6	15	3	17	0	3	2	0	1	3	1	8	2	8	2	5	0	2	1	5	0	1	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr14:94545833C>G	ENST00000330836.5	-	2	387	c.256G>C	c.(256-258)Gag>Cag	p.E86Q	DDX24_ENST00000555054.1_Missense_Mutation_p.E43Q|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	86	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)		TCCTCCTCCTCCTCTTCTTCT	0.438																																																	0													165	162	163					14																	94545833		2203	4300	6503	SO:0001583	missense	0			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.256G>C	14.37:g.94545833C>G	ENSP00000328690:p.Glu86Gln		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E86Q	ENST00000330836.5	37	c.256	CCDS9918.1	14	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642011	0.67244	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.03663	3.85;3.89	5.9	5.9	0.94986	.	0.654674	0.17078	N	0.187885	T	0.08714	0.0216	L	0.52573	1.65	0.32645	N	0.5202	D	0.56035	0.974	P	0.49140	0.601	T	0.02037	-1.1225	10	0.51188	T	0.08	-0.6288	15.5011	0.75700	0.1391:0.8609:0.0:0.0	.	86	Q9GZR7	DDX24_HUMAN	Q	86;86;43;43	ENSP00000328690:E86Q;ENSP00000452145:E43Q	ENSP00000328690:E86Q	E	-	1	0	DDX24	93615586	0.026000	0.19158	0.979000	0.43373	0.980000	0.70556	0.714000	0.25808	2.801000	0.96364	0.650000	0.86243	GAG	DDX24	-	NULL	ENSG00000089737		0.438	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX24	HGNC	protein_coding	OTTHUMT00000412861.1	-	0	22	0	C	NM_020414		94545833	-1	tier1	-	no_errors	ENST00000330836	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.903	G	G	94545833	C	G	94545833	3	3	184	1	0	0	0	0	1	0	0	0	4360	864	30	5	2355	5	DDX24	14	94545833	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3895075	94545833	12803707	335	46012											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102483493	102483493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacttttgatcactactgCgagtacaggcgcacacctaa	13	9	8	11	2	1	2	1	1	0	1	1	3	1	2	1	1	3	2	1	1	4	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr14:102483493C>T	ENST00000360184.4	+	39	8081	c.7917C>T	c.(7915-7917)tgC>tgT	p.C2639C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2639	AAA 3. {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)	p.C2639C(1)		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						ATCACTACTGCGAGTACAGGC	0.473																																																	1	Substitution - coding silent(1)	large_intestine(1)											149	140	143					14																	102483493		2203	4300	6503	SO:0001819	synonymous_variant	0			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.7917C>T	14.37:g.102483493C>T			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.C2639	ENST00000360184.4	37	c.7917	CCDS9966.1	14																																																																																			DYNC1H1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000197102		0.473	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1		0	38	0	C	NM_001376		102483493	1			no_errors	ENST00000360184	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.999	T	T	102483493	C	T	102483493	2	4	184	1	0	0	0	0	0	0	0	1	4855	776	27	1		1	DYNC1H1	14	102483493	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	7937660	102483493	4866047	336	46013											
CKB	1152	genome.wustl.edu	37	chr14	103986518	103986518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgagaacttctcatgcttgCccaggttgggcagcttgata	8	11	11	11	1	1	2	1	1	1	1	2	3	1	2	2	2	4	4	2	2	2	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr14:103986518C>A	ENST00000348956.2	-	7	1265	c.908G>T	c.(907-909)gGc>gTc	p.G303V		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	303	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	CTCATGCTTGCCCAGGTTGGG	0.622																																					Esophageal Squamous(186;2492 2823 49929 50127)												0													49	53	52					14																	103986518		2203	4299	6502	SO:0001583	missense	0				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.908G>T	14.37:g.103986518C>A	ENSP00000299198:p.Gly303Val		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.G303V	ENST00000348956.2	37	c.908	CCDS9981.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.007470|4.007470	0.75046|0.75046	.|.	.|.	ENSG00000166165|ENSG00000166165	ENST00000555039|ENST00000348956;ENST00000428256;ENST00000553610	.|T;T	.|0.10192	.|2.9;2.9	4.63|4.63	4.63|4.63	0.57726|0.57726	.|ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	.|0.046925	.|0.85682	.|D	.|0.000000	T|T	0.20861|0.20861	0.0502|0.0502	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	.|P	.|0.40180	.|0.705	.|P	.|0.48488	.|0.579	T|T	0.01356|0.01356	-1.1376|-1.1376	5|10	.|0.87932	.|D	.|0	-14.6926|-14.6926	17.5047|17.5047	0.87741|0.87741	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|303	.|P12277	.|KCRB_HUMAN	S|V	54|303;268;101	.|ENSP00000299198:G303V;ENSP00000451426:G101V	.|ENSP00000299198:G303V	A|G	-|-	1|2	0|0	CKB|CKB	103056271|103056271	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.952000|0.952000	0.60782|0.60782	7.698000|7.698000	0.84413|0.84413	2.110000|2.110000	0.64415|0.64415	0.462000|0.462000	0.41574|0.41574	GCA|GGC	CKB	-	pfam_ATP-guanido_PTrfase_cat	ENSG00000166165		0.622	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKB	HGNC	protein_coding	OTTHUMT00000415111.1		0	62	0	C			103986518	-1			no_errors	ENST00000348956	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	103986518	C	A	103986518	3	1	184	1	0	0	0	0	1	0	0	0	3453	739	26	3	245	3	CKB	14	103986518	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1503025	103986518	3363022	337	46014											
INF2	64423	genome.wustl.edu	37	chr14	105172433	105172433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgaggaggctaaggccgagGacgaggaggagctgctgcga	10	4	19	8	4	0	0	0	0	0	0	1	8	0	4	1	6	3	3	1	6	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr14:105172433G>A	ENST00000392634.4	+	6	875	c.763G>A	c.(763-765)Gac>Aac	p.D255N	INF2_ENST00000330634.7_Missense_Mutation_p.D255N	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	255	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TAAGGCCGAGGACGAGGAGGA	0.657																																																	0													26	31	30					14																	105172433		2076	4210	6286	SO:0001583	missense	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.763G>A	14.37:g.105172433G>A	ENSP00000376410:p.Asp255Asn		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.D255N	ENST00000392634.4	37	c.763	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938835	0.92526	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.96427	-4.01;-4.01	4.28	4.28	0.50868	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	1.308490	0.05248	N	0.513404	D	0.98651	0.9548	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.95062	0.8196	10	0.66056	D	0.02	.	17.073	0.86579	0.0:0.0:1.0:0.0	.	255;255	Q27J81-2;Q27J81	.;INF2_HUMAN	N	255	ENSP00000376406:D255N;ENSP00000376410:D255N	ENSP00000376406:D255N	D	+	1	0	INF2	104243478	1.000000	0.71417	0.998000	0.56505	0.612000	0.37316	9.641000	0.98458	2.088000	0.63022	0.462000	0.41574	GAC	INF2	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000203485		0.657	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	-	0	87	0	G	NM_022489		105172433	1	tier1	-	no_errors	ENST00000392634	ensembl	human	known	74_37	missense	34.38	42	22	SNP	1.000	A	A	105172433	G	A	105172433	3	1	184	1	0	0	0	0	1	0	0	0	7761	1174	41	3	785	3	INF2	14	105172433	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1185915	105172433	2177107	338	46015											
JAG2	3714	genome.wustl.edu	37	chr14	105617715	105617715	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caccggccgcacacgggttcGaagcacactcatcgatgtct	9	7	10	15	5	2	0	1	0	1	0	4	2	2	0	2	2	1	3	2	2	1	1	rs372331234		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr14:105617715G>C	ENST00000331782.3	-	9	1575	c.1172C>G	c.(1171-1173)tCg>tGg	p.S391W	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.S391W	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	391	EGF-like 5; calcium-binding. {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)		ACACGGGTTCGAAGCACACTC	0.652																																																	0													35	33	34					14																	105617715		2203	4300	6503	SO:0001583	missense	0			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.1172C>G	14.37:g.105617715G>C	ENSP00000328169:p.Ser391Trp		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.S391W	ENST00000331782.3	37	c.1172	CCDS9998.1	14	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926565	0.52759	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.91945	-2.94;-2.3	3.76	3.76	0.43208	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.97508	0.9184	H	0.98646	4.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98268	1.0502	10	0.72032	D	0.01	.	13.0718	0.59066	0.0:0.0:1.0:0.0	.	391;391	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	W	391	ENSP00000328169:S391W;ENSP00000328566:S391W	ENSP00000328169:S391W	S	-	2	0	JAG2	104688760	0.992000	0.36948	0.119000	0.21687	0.376000	0.30014	6.367000	0.73099	1.610000	0.50200	0.297000	0.19635	TCG	JAG2	-	pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184916		0.652	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	-	0	59	0	G			105617715	-1	tier1	-	no_errors	ENST00000331782	ensembl	human	known	74_37	missense	35.00	26	14	SNP	0.998	C	C	105617715	G	C	105617715	3	2	184	1	0	0	0	0	1	0	0	0	7962	1059	37	5	2616	5	JAG2	14	105617715	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	445282	105617715	1731825	339	46016											
C15orf2	23742	genome.wustl.edu	37	chr15	24921665	24921665	+	Silent	SNP	A	A	T	1	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	aatgtctaccacaagttctcAgaaaacagcatgagtgagaa	17	8	8	8	0	2	3	1	2	2	2	3	4	2	3	1	0	3	2	1	0	6	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr15:24921665A>T	ENST00000329468.2	+	1	1125	c.651A>T	c.(649-651)tcA>tcT	p.S217S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	217					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ACAAGTTCTCAGAAAACAGCA	0.622																																																	0													37	37	37					15																	24921665		2203	4300	6503	SO:0001819	synonymous_variant	0			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.651A>T	15.37:g.24921665A>T				Silent	SNP	NULL	p.S217	ENST00000329468.2	37	c.651	CCDS10015.1	15																																																																																			NPAP1	-	NULL	ENSG00000185823		0.622	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	-	0	24	0	A	NM_018958		24921665	1	tier1	-	no_errors	ENST00000329468	ensembl	human	known	74_37	silent	21.15	41	11	SNP	0.000	T	T	24921665	A	T	24921665	2	4	184	1	0	0	0	0	0	0	0	1	1789	175	7	5		5	C15orf2	15	24921665	Silent	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09		24921665	77609727	340	46017											
RPUSD2	27079	genome.wustl.edu	37	chr15	40864051	40864051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggtgcttatgtttgccaaGacagctgcagtctctgagag	8	11	14	8	0	1	2	0	1	1	2	2	3	1	2	1	2	4	4	1	2	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr15:40864051G>C	ENST00000315616.7	+	2	893	c.855G>C	c.(853-855)aaG>aaC	p.K285N	RPUSD2_ENST00000559271.1_Missense_Mutation_p.K224N	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	285					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TGTTTGCCAAGACAGCTGCAG	0.542																																																	0													110	106	107					15																	40864051		2203	4300	6503	SO:0001583	missense	0			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"RNA pseudouridylate synthase domain containing"	24180	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 19"	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.855G>C	15.37:g.40864051G>C	ENSP00000323288:p.Lys285Asn		B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D	p.K285N	ENST00000315616.7	37	c.855	CCDS10061.1	15	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245269	0.80024	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.15017	2.46	6.17	4.32	0.51571	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.042053	0.85682	D	0.000000	T	0.59169	0.2174	H	0.98769	4.325	0.54753	D	0.999989	D	0.71674	0.998	D	0.79108	0.992	T	0.75224	-0.3393	10	0.87932	D	0	-25.777	13.0963	0.59195	0.1289:0.0:0.8711:0.0	.	285	Q8IZ73	RUSD2_HUMAN	N	285;264	ENSP00000323288:K285N	ENSP00000323288:K285N	K	+	3	2	RPUSD2	38651343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.079000	0.30766	0.948000	0.37687	0.655000	0.94253	AAG	RPUSD2	-	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D	ENSG00000166133		0.542	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPUSD2	HGNC	protein_coding	OTTHUMT00000252308.2	-	0	20	0	G	NM_152260		40864051	1	tier1	-	no_errors	ENST00000315616	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	C	C	40864051	G	C	40864051	3	2	184	1	0	0	0	0	1	0	0	0	13712	933	33	5	861	5	RPUSD2	15	40864051	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	15942386	40864051	61667341	341	46018											
MYO5C	55930	genome.wustl.edu	37	chr15	52527916	52527916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagctgtatttgttctttCtgtgtttccagttctgaatt	5	22	7	7	0	4	1	1	1	3	0	5	1	5	1	1	0	1	5	1	0	2	8			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr15:52527916C>T	ENST00000261839.7	-	23	3074	c.2913G>A	c.(2911-2913)caG>caA	p.Q971Q	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	971						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)		TTTGTTCTTTCTGTGTTTCCA	0.398																																																	0													162	147	151					15																	52527916		1825	4078	5903	SO:0001819	synonymous_variant	0			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.2913G>A	15.37:g.52527916C>T			Q6P1W8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q971	ENST00000261839.7	37	c.2913	CCDS42036.1	15																																																																																			MYO5C	-	NULL	ENSG00000128833		0.398	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	-	0	36	0	C	NM_018728		52527916	-1	tier1	-	no_errors	ENST00000261839	ensembl	human	known	74_37	silent	32.50	27	13	SNP	0.994	T	T	52527916	C	T	52527916	2	4	184	1	0	0	0	0	0	0	0	1	10118	912	32	3		3	MYO5C	15	52527916	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	11663865	52527916	50003476	342	46019											
NEDD4	4734	genome.wustl.edu	37	chr15	56208246	56208246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgactaaggaggagtaacGttttagtggaatttttgtgt	12	15	12	2	1	0	1	0	1	0	0	0	4	0	4	0	3	1	2	0	3	5	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr15:56208246G>T	ENST00000508342.1	-	1	1083	c.784C>A	c.(784-786)Cgt>Agt	p.R262S	NEDD4_ENST00000506154.1_Missense_Mutation_p.R262S|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.R262S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	262					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)		GAGGAGTAACGTTTTAGTGGA	0.413																																																	0													107	106	107					15																	56208246		2193	4291	6484	SO:0001583	missense	0			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.784C>A	15.37:g.56208246G>T	ENSP00000424827:p.Arg262Ser		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.R262S	ENST00000508342.1	37	c.784		15	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921427	0.73213	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.40476	1.03;1.03;1.03	5.25	4.32	0.51571	.	1.220650	0.05028	N	0.474186	T	0.57961	0.2089	L	0.36672	1.1	0.32684	N	0.515105	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.68353	0.957;0.907;0.957	T	0.53913	-0.8371	10	0.87932	D	0	.	13.3348	0.60512	0.0777:0.0:0.9223:0.0	.	262;262;262	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	S	262	ENSP00000424827:R262S;ENSP00000345530:R262S;ENSP00000422705:R262S	ENSP00000345530:R262S	R	-	1	0	NEDD4	53995538	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.804000	0.75186	2.466000	0.83321	0.467000	0.42956	CGT	NEDD4	-	NULL	ENSG00000069869		0.413	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359817.1		0	47	0	G	NM_198400		56208246	-1			no_errors	ENST00000508342	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	56208246	G	T	56208246	3	4	184	1	0	0	0	0	1	0	0	0	10349	1145	40	2	3275	2	NEDD4	15	56208246	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3680330	56208246	46323146	343	46020											
RFX7	64864	genome.wustl.edu	37	chr15	56394372	56394372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctgaattcttaccccatCtccagttttgtgaaagtcaa	11	13	7	10	0	3	2	1	2	2	0	4	2	3	2	3	1	1	2	3	1	4	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr15:56394372C>G	ENST00000559447.2	-	6	578	c.307G>C	c.(307-309)Gat>Cat	p.D103H	RFX7_ENST00000423270.1_Missense_Mutation_p.D200H|RFX7_ENST00000422057.1_Missense_Mutation_p.D103H|RFX7_ENST00000317318.6_Missense_Mutation_p.D200H			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	103					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						CTTACCCCATCTCCAGTTTTG	0.343																																																	0													73	69	70					15																	56394372		1802	4064	5866	SO:0001583	missense	0					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.307G>C	15.37:g.56394372C>G	ENSP00000453281:p.Asp103His		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.D200H	ENST00000559447.2	37	c.598		15	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633651	0.87660	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.58210	0.37;0.35;0.35	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.978	T	0.69525	-0.5122	10	0.72032	D	0.01	-18.0133	19.239	0.93875	0.0:1.0:0.0:0.0	.	103;103	Q2KHR2;C9JU50	RFX7_HUMAN;.	H	103;200;200	ENSP00000387504:D103H;ENSP00000313299:D200H;ENSP00000397644:D200H	ENSP00000313299:D200H	D	-	1	0	RFX7	54181664	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.788000	0.95919	0.585000	0.79938	GAT	RFX7	-	NULL	ENSG00000181827		0.343	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	-	0	65	0	C	NM_022841		56394372	-1	tier1	-	no_errors	ENST00000423270	ensembl	human	known	74_37	missense	16.95	49	10	SNP	1.000	G	G	56394372	C	G	56394372	3	3	184	1	0	0	0	0	1	0	0	0	13313	913	32	5	3800	5	RFX7	15	56394372	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	186126	56394372	46137020	344	46021											
HCN4	10021	genome.wustl.edu	37	chr15	73614969	73614969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagaacctgaggatgtCttccgaggcagagtgacgtg	11	7	15	8	2	1	4	0	2	1	2	2	6	2	5	2	3	1	2	2	3	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr15:73614969C>A	ENST00000261917.3	-	8	4458	c.3465G>T	c.(3463-3465)aaG>aaT	p.K1155N		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1155					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)		CTGAGGATGTCTTCCGAGGCA	0.677																																																	0													25	25	25					15																	73614969		2194	4297	6491	SO:0001583	missense	0			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.3465G>T	15.37:g.73614969C>A	ENSP00000261917:p.Lys1155Asn		Q9UMQ7	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.K1155N	ENST00000261917.3	37	c.3465	CCDS10248.1	15	.	.	.	.	.	.	.	.	.	.	C	7.817	0.716887	0.15306	.	.	ENSG00000138622	ENST00000261917	D	0.97665	-4.48	3.4	2.46	0.29980	.	.	.	.	.	D	0.92753	0.7696	N	0.22421	0.69	0.31920	N	0.613537	B	0.06786	0.001	B	0.04013	0.001	D	0.90345	0.4362	9	0.66056	D	0.02	.	9.9616	0.41699	0.3636:0.6364:0.0:0.0	.	1155	Q9Y3Q4	HCN4_HUMAN	N	1155	ENSP00000261917:K1155N	ENSP00000261917:K1155N	K	-	3	2	HCN4	71402022	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	6.747000	0.74872	0.600000	0.29862	-0.577000	0.04142	AAG	HCN4	-	NULL	ENSG00000138622		0.677	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	-	0	9	0	C	NM_005477		73614969	-1	tier1	-	no_errors	ENST00000261917	ensembl	human	known	74_37	missense	64.29	5	9	SNP	1.000	A	A	73614969	C	A	73614969	3	1	184	1	0	0	0	0	1	0	0	0	7026	912	32	3	150	3	HCN4	15	73614969	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	17220597	73614969	28916423	345	46022											
CSPG4	1464	genome.wustl.edu	37	chr15	75969636	75969636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcacatcatgctctgagcGctggggtgatggaacgctgg	8	8	16	9	2	2	2	1	2	1	0	2	4	2	3	0	4	4	4	0	4	1	0	rs182397893		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr15:75969636G>T	ENST00000308508.5	-	10	5316	c.5224C>A	c.(5224-5226)Cgc>Agc	p.R1742S	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1742	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						TGCTCTGAGCGCTGGGGTGAT	0.662																																																	0													16	13	14					15																	75969636		2180	4281	6461	SO:0001583	missense	0			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.5224C>A	15.37:g.75969636G>T	ENSP00000312506:p.Arg1742Ser		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.R1742S	ENST00000308508.5	37	c.5224	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401628	0.25291	.	.	ENSG00000173546	ENST00000308508	T	0.20200	2.09	5.39	4.41	0.53225	.	0.000000	0.64402	D	0.000013	T	0.32793	0.0841	M	0.68952	2.095	0.54753	D	0.999989	D	0.58620	0.983	P	0.57679	0.825	T	0.07927	-1.0747	10	0.08381	T	0.77	.	12.1167	0.53870	0.0:0.0:0.73:0.27	.	1742	Q6UVK1	CSPG4_HUMAN	S	1742	ENSP00000312506:R1742S	ENSP00000312506:R1742S	R	-	1	0	CSPG4	73756691	0.737000	0.28175	0.739000	0.30968	0.054000	0.15201	1.070000	0.30653	2.517000	0.84864	0.561000	0.74099	CGC	CSPG4	-	NULL	ENSG00000173546		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	-	0	71	0	G	NM_001897		75969636	-1	tier1	-	no_errors	ENST00000308508	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.980	T	T	75969636	G	T	75969636	3	4	184	1	0	0	0	0	1	0	0	0	3969	1087	38	2	1748	2	CSPG4	15	75969636	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2354667	75969636	26561756	346	46023											
CHRNA5	1138	genome.wustl.edu	37	chr15	78873159	78873159	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttgttatacaggattatCtgaaccttcttctattgcaa	12	17	5	7	0	3	1	0	1	3	0	3	2	3	2	1	1	3	2	1	1	7	8			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr15:78873159C>G	ENST00000299565.5	+	2	313	c.113C>G	c.(112-114)tCt>tGt	p.S38C	CHRNA5_ENST00000559554.1_Missense_Mutation_p.S38C	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	38					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	ACAGGATTATCTGAACCTTCT	0.368																																																	0													66	66	66					15																	78873159		2195	4293	6488	SO:0001583	missense	0				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1959	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 5 (neuronal)"	118505	"cholinergic receptor, nicotinic, alpha polypeptide 5"			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.113C>G	15.37:g.78873159C>G	ENSP00000299565:p.Ser38Cys		Q15824|Q99554	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S38C	ENST00000299565.5	37	c.113	CCDS10304.1	15	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136154	0.77662	.	.	ENSG00000169684	ENST00000299565	T	0.78707	-1.2	5.52	5.52	0.82312	.	0.262349	0.39020	N	0.001500	T	0.65037	0.2653	N	0.08118	0	0.44042	D	0.996779	B	0.33448	0.412	B	0.36186	0.219	T	0.64618	-0.6365	10	0.32370	T	0.25	.	19.4388	0.94809	0.0:1.0:0.0:0.0	.	38	P30532	ACHA5_HUMAN	C	38	ENSP00000299565:S38C	ENSP00000299565:S38C	S	+	2	0	CHRNA5	76660214	1.000000	0.71417	0.822000	0.32727	0.950000	0.60333	5.297000	0.65704	2.590000	0.87494	0.655000	0.94253	TCT	CHRNA5	-	NULL	ENSG00000169684		0.368	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA5	HGNC	protein_coding	OTTHUMT00000290106.1	-	0	162	0	C			78873159	1	tier1	-	no_errors	ENST00000299565	ensembl	human	known	74_37	missense	34.25	118	62	SNP	0.958	G	G	78873159	C	G	78873159	3	3	184	1	0	0	0	0	1	0	0	0	3393	913	32	5	119	5	CHRNA5	15	78873159	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2903523	78873159	23658233	347	46024											
RASGRF1	5923	genome.wustl.edu	37	chr15	79292148	79292148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ggtgccctcgttggccccggCggttgctatggcaaaggcag	5	8	16	12	3	0	0	0	0	0	0	1	0	0	0	3	6	2	5	3	6	2	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr15:79292148C>T	ENST00000419573.3	-	18	3005	c.2731G>A	c.(2731-2733)Gcc>Acc	p.A911T	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.A895T|RASGRF1_ENST00000394745.3_Missense_Mutation_p.A127T	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	911					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						TTGGCCCCGGCGGTTGCTATG	0.567																																																	0													142	110	121					15																	79292148		2196	4293	6489	SO:0001583	missense	0			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.2731G>A	15.37:g.79292148C>T	ENSP00000405963:p.Ala911Thr		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A911T	ENST00000419573.3	37	c.2731	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619134	0.87460	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.69040	-0.37;-0.01	4.34	4.34	0.51931	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.604609	0.15127	N	0.279063	T	0.80470	0.4629	M	0.77820	2.39	0.80722	D	1	B;D;P;D	0.89917	0.275;1.0;0.905;1.0	B;D;B;D	0.91635	0.039;0.998;0.191;0.999	T	0.76517	-0.2930	10	0.21540	T	0.41	.	14.3634	0.66789	0.0:1.0:0.0:0.0	.	307;895;913;895	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	T	911;895;127	ENSP00000405963:A911T;ENSP00000378228:A127T	ENSP00000378224:A895T	A	-	1	0	RASGRF1	77079203	1.000000	0.71417	0.095000	0.20976	0.926000	0.56050	5.352000	0.66028	2.236000	0.73375	0.591000	0.81541	GCC	RASGRF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N	ENSG00000058335		0.567	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3		0	45	0	C	NM_002891		79292148	-1			no_errors	ENST00000419573	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.976	T	T	79292148	C	T	79292148	3	4	184	1	0	0	0	0	1	0	0	0	13117	768	27	1	1134	1	RASGRF1	15	79292148	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	418989	79292148	23239244	348	46025											
SOLH	6650	genome.wustl.edu	37	chr16	603464	603465	+	Frame_Shift_Ins	INS	-	-	C																															gcctccaaggggacccacagINSccccccactcacgccagagg																										TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:603464_603465insC	ENST00000219611.2	+	14	3572_3573	c.3209_3210insC	c.(3208-3213)agccccfs	p.SP1070fs	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1070					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)										GGGACCCACAGCCCCCCACTCA	0.688																																																	0																																										SO:0001589	frameshift_variant	0			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.3215dupC	16.37:g.603470_603470dupC	ENSP00000219611:p.Ser1070fs		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Frame_Shift_Ins	INS	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L1073fs	ENST00000219611.2	37	c.3209_3210	CCDS10410.1	16																																																																																			CAPN15	-	NULL	ENSG00000103326		0.688	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	HGNC	protein_coding	OTTHUMT00000239271.1		0	20	0	-	NM_005632		603465	1	tier1		no_errors	ENST00000219611	ensembl	human	known	74_37	frame_shift_ins	7.14	26	2	INS	0.998:0.991	C	C	603465	-	C	603464	7	5	184	1	0	1	1	0	0	0	0	0	14970	971	34	0	3251	0	SOLH	16	603464	Frame_Shift_Ins	INS	-	TCGA-Z6-AAPN-01A-11D-A403-09		603464	89751289	349	46026											
C16orf91	283951	genome.wustl.edu	37	chr16	1476218	1476218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttggggaggactggtcagCctcatcctggtgtgcagccc	5	9	16	11	0	2	0	2	0	0	0	3	2	3	2	3	6	3	2	3	6	0	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:1476218C>T	ENST00000310355.1	-	3	404	c.405G>A	c.(403-405)agG>agA	p.R135R				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GACTGGTCAGCCTCATCCTGG	0.612																																																	0													98	102	101					16																	1476218		2199	4300	6499	SO:0001819	synonymous_variant	0			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.405G>A	16.37:g.1476218C>T			Q96RZ0	Silent	SNP	prints_CCSMST1	p.R135	ENST00000310355.1	37	c.405	CCDS32360.1	16																																																																																			C16orf91	-	NULL	ENSG00000174109		0.612	C16orf91-201	KNOWN	basic|CCDS	protein_coding	C16orf91	HGNC	protein_coding		-	0	57	0	C	NM_001010878		1476218	-1	tier1	-	no_errors	ENST00000310355	ensembl	human	known	74_37	silent	5.49	86	5	SNP	0.000	T	T	1476218	C	T	1476218	2	4	184	1	0	0	0	0	0	0	0	1	1849	738	26	3		3	C16orf91	16	1476218	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	872754	1476218	88878535	350	46027											
IGFALS	3483	genome.wustl.edu	37	chr16	1841183	1841183	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccttgaggaagagtcggcgGagccccgagaggccggtgaa	9	5	17	10	4	0	4	0	2	0	2	2	7	1	6	4	5	1	0	4	5	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:1841183G>C	ENST00000215539.3	-	2	1346	c.1236C>G	c.(1234-1236)ctC>ctG	p.L412L	IGFALS_ENST00000415638.3_Silent_p.L450L			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	412					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						AGAGTCGGCGGAGCCCCGAGA	0.687																																																	0													21	27	25					16																	1841183		2194	4293	6487	SO:0001819	synonymous_variant	0			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	ENST00000215539.3:c.1236C>G	16.37:g.1841183G>C			B4DZY8|E9PGU3	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L450	ENST00000215539.3	37	c.1350	CCDS10446.1	16																																																																																			IGFALS	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000099769		0.687	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFALS	HGNC	protein_coding	OTTHUMT00000250509.2	-	0	33	0	G			1841183	-1	tier1	-	no_errors	ENST00000415638	ensembl	human	known	74_37	silent	9.76	36	4	SNP	0.996	C	C	1841183	G	C	1841183	2	2	184	1	0	0	0	0	0	0	0	1	7604	1161	41	5		5	IGFALS	16	1841183	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	364965	1841183	88513570	351	46028											
GLYR1	84656	genome.wustl.edu	37	chr16	4863802	4863802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	ccacgtagcacttcccagggCggatcccttgcagcacacca	9	6	9	17	2	0	0	0	0	0	0	2	1	2	1	4	2	3	4	4	2	1	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:4863802C>T	ENST00000321919.9	-	12	1131	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	GLYR1_ENST00000591451.1_Missense_Mutation_p.R346H|GLYR1_ENST00000381983.3_Missense_Mutation_p.R335H|GLYR1_ENST00000436648.5_Missense_Mutation_p.R271H	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	352					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						CTTCCCAGGGCGGATCCCTTG	0.622																																																	0													71	53	59					16																	4863802		2197	4300	6497	SO:0001583	missense	0			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.1055G>A	16.37:g.4863802C>T	ENSP00000322716:p.Arg352His		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom	p.R352H	ENST00000321919.9	37	c.1055	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955423	0.73902	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.70516	-0.18;-0.17;-0.49	5.37	5.37	0.77165	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	L	0.41710	1.295	0.80722	D	1	B;P;B;D	0.76494	0.169;0.709;0.169;0.999	B;B;B;P	0.60236	0.034;0.08;0.049;0.871	T	0.75958	-0.3134	10	0.44086	T	0.13	-9.9325	18.2373	0.89954	0.0:1.0:0.0:0.0	.	271;346;335;352	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	H	352;335;271	ENSP00000322716:R352H;ENSP00000371413:R335H;ENSP00000390276:R271H	ENSP00000322716:R352H	R	-	2	0	GLYR1	4803803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.447000	0.80620	2.667000	0.90743	0.655000	0.94253	CGC	GLYR1	-	pfam_6PGDH_NADP-bd	ENSG00000140632		0.622	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2		0	22	0	C	NM_032569		4863802	-1			no_errors	ENST00000321919	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	4863802	C	T	4863802	3	4	184	1	0	0	0	0	1	0	0	0	6509	768	27	1	626	1	GLYR1	16	4863802	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3022619	4863802	85490951	352	46029											
PPL	5493	genome.wustl.edu	37	chr16	4949116	4949116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctccaggttccggttgatGaaattctgcagtggggggca	7	10	15	9	1	1	2	0	2	1	0	3	2	3	2	3	5	1	4	3	5	1	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:4949116G>C	ENST00000345988.2	-	8	863	c.774C>G	c.(772-774)ttC>ttG	p.F258L	PPL_ENST00000590782.2_Missense_Mutation_p.F256L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	258					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						TCCGGTTGATGAAATTCTGCA	0.657																																																	0													69	76	73					16																	4949116		2197	4300	6497	SO:0001583	missense	0			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.774C>G	16.37:g.4949116G>C	ENSP00000340510:p.Phe258Leu		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.F258L	ENST00000345988.2	37	c.774	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743498	0.89663	.	.	ENSG00000118898	ENST00000345988	T	0.66995	-0.24	5.25	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	N	0.25245	0.725	0.53005	D	0.999967	P	0.50443	0.935	P	0.45753	0.492	T	0.51725	-0.8669	10	0.22109	T	0.4	.	14.217	0.65800	0.0732:0.0:0.9268:0.0	.	258	O60437	PEPL_HUMAN	L	258	ENSP00000340510:F258L	ENSP00000340510:F258L	F	-	3	2	PPL	4889117	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.488000	0.35551	2.459000	0.83118	0.561000	0.74099	TTC	PPL	-	smart_Spectrin/alpha-actinin	ENSG00000118898		0.657	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	-	0	36	0	G	NM_002705		4949116	-1	tier1	-	no_errors	ENST00000345988	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	C	C	4949116	G	C	4949116	3	2	184	1	0	0	0	0	1	0	0	0	12376	1281	45	5	4556	5	PPL	16	4949116	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	85314	4949116	85405637	353	46030											
C16orf62	57020	genome.wustl.edu	37	chr16	19628044	19628044	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaaccagctggtggtcCaaggagtggagctcccatct	9	8	12	12	0	1	1	0	0	1	1	4	3	4	3	4	4	3	2	4	4	2	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:19628044C>T	ENST00000251143.5	+	14	1150	c.1138C>T	c.(1138-1140)Caa>Taa	p.Q380*	C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q129*|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000438132.3_Nonsense_Mutation_p.Q469*|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q230*			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	380						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						GCTGGTGGTCCAAGGAGTGGA	0.522																																																	0													141	115	124					16																	19628044		2197	4300	6497	SO:0001587	stop_gained	0				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.1138C>T	16.37:g.19628044C>T	ENSP00000251143:p.Gln380*		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Nonsense_Mutation	SNP	NULL	p.Q469*	ENST00000251143.5	37	c.1405		16	.	.	.	.	.	.	.	.	.	.	C	32	5.127548	0.94473	.	.	ENSG00000103544	ENST00000438132;ENST00000251143;ENST00000448695	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.5587	18.7567	0.91835	0.0:1.0:0.0:0.0	.	.	.	.	X	469;380;230	.	.	Q	+	1	0	C16orf62	19535545	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.313000	0.78978	2.524000	0.85096	0.557000	0.71058	CAA	C16orf62	-	NULL	ENSG00000103544		0.522	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	HGNC	protein_coding		-	0	75	0	C	NM_020314		19628044	1	tier1	-	no_errors	ENST00000438132	ensembl	human	known	74_37	nonsense	28.40	58	23	SNP	1.000	T	T	19628044	C	T	19628044	4	4	184	1	0	0	0	0	0	1	0	0	1830	595	21	3	1192	3	C16orf62	16	19628044	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	14678928	19628044	70726709	354	46031											
SEPT1	1731	genome.wustl.edu	37	chr16	30392739	30392739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccggttcaggccactctCatccctaaggtactgctcaa	8	11	7	15	1	3	0	3	0	1	0	6	0	5	0	3	3	2	3	3	3	3	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:30392739C>G	ENST00000571393.1	-	6	547	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	SEPT1_ENST00000605106.1_Missense_Mutation_p.E126Q|SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000321367.3_Missense_Mutation_p.E168Q			Q8WYJ6	SEPT1_HUMAN	septin 1	121	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.E121K(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AGGCCACTCTCATCCCTAAGG	0.582																																																	1	Substitution - Missense(1)	breast(1)											107	101	103					16																	30392739		2197	4300	6497	SO:0001583	missense	0			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.361G>C	16.37:g.30392739C>G	ENSP00000460441:p.Glu121Gln		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.E168Q	ENST00000571393.1	37	c.502		16	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816937	0.50633	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.65	4.7	0.59300	.	0.092055	0.47455	D	0.000227	T	0.80924	0.4717	M	0.86953	2.85	0.58432	D	0.999994	D;D	0.89917	1.0;0.992	D;P	0.81914	0.995;0.882	D	0.84685	0.0719	9	0.87932	D	0	.	13.8397	0.63430	0.0:0.9251:0.0:0.0749	.	168;121	B4E0I4;Q8WYJ6	.;SEPT1_HUMAN	Q	121	.	ENSP00000324511:E121Q	E	-	1	0	SEPT1	30300240	1.000000	0.71417	0.997000	0.53966	0.048000	0.14542	7.818000	0.86416	1.546000	0.49388	-0.229000	0.12294	GAG	SEPT1	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000180096		0.582	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding		-	0	87	0	C	NM_052838		30392739	-1	tier1	-	no_errors	ENST00000321367	ensembl	human	known	74_37	missense	30.00	63	27	SNP	1.000	G	G	30392739	C	G	30392739	3	3	184	1	0	0	0	0	1	0	0	0	14104	835	29	5	770	5	SEPT1	16	30392739	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	10764695	30392739	59962014	355	46032											
STX1B	112755	genome.wustl.edu	37	chr16	31004737	31004737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggatgctggtctccagcttGatgatctcattgtgcctcgt	5	14	11	11	2	2	2	1	2	2	0	5	3	2	3	2	2	3	2	2	2	0	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:31004737G>C	ENST00000215095.5	-	8	837	c.606C>G	c.(604-606)atC>atG	p.I202M	STX1B_ENST00000565419.1_Missense_Mutation_p.I202M	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	202	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TCTCCAGCTTGATGATCTCAT	0.542																																																	0													191	148	163					16																	31004737		2197	4300	6497	SO:0001583	missense	0			AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"syntaxin 1B1", "syntaxin 1B2"	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.606C>G	16.37:g.31004737G>C	ENSP00000215095:p.Ile202Met		Q15531|Q2VPS2	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.I202M	ENST00000215095.5	37	c.606	CCDS10699.1	16	.	.	.	.	.	.	.	.	.	.	G	8.348	0.830188	0.16749	.	.	ENSG00000099365	ENST00000215095	T	0.22134	1.97	5.0	5.0	0.66597	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.076681	0.56097	D	0.000026	T	0.13243	0.0321	N	0.04805	-0.155	0.58432	D	0.999999	B;B	0.20671	0.047;0.041	B;B	0.27715	0.082;0.056	T	0.14504	-1.0470	10	0.29301	T	0.29	.	17.0941	0.86630	0.0:0.0:1.0:0.0	.	202;202	Q2VPS2;P61266	.;STX1B_HUMAN	M	202	ENSP00000215095:I202M	ENSP00000215095:I202M	I	-	3	3	STX1B	30912238	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.057000	0.71119	2.309000	0.77851	0.561000	0.74099	ATC	STX1B	-	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000099365		0.542	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1B	HGNC	protein_coding	OTTHUMT00000255521.2	-	0	27	0	G			31004737	-1	tier1	-	no_errors	ENST00000215095	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	C	C	31004737	G	C	31004737	3	2	184	1	0	0	0	0	1	0	0	0	15391	1280	45	5	272	5	STX1B	16	31004737	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	611998	31004737	59350016	356	46033											
ZNF267	10308	genome.wustl.edu	37	chr16	31926132	31926132	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagatatttggggaaaacatCacatatatgataaaacttca	18	12	6	5	0	2	2	2	1	0	1	2	3	2	3	0	2	2	0	0	2	8	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:31926132C>G	ENST00000300870.10	+	4	771	c.562C>G	c.(562-564)Cac>Gac	p.H188D		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	188					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GGGAAAACATCACATATATGA	0.303																																																	0													44	46	45					16																	31926132		2197	4297	6494	SO:0001583	missense	0			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.562C>G	16.37:g.31926132C>G	ENSP00000300870:p.His188Asp		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H188D	ENST00000300870.10	37	c.562	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	2.576	-0.298419	0.05532	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.05139	3.49	0.458	-0.613	0.11594	.	.	.	.	.	T	0.07143	0.0181	M	0.63843	1.955	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.35400	-0.9790	9	0.72032	D	0.01	.	3.7552	0.08582	0.0:0.3743:0.0:0.6257	.	188	Q14586	ZN267_HUMAN	D	188;155	ENSP00000300870:H188D	ENSP00000300870:H188D	H	+	1	0	ZNF267	31833633	0.002000	0.14202	0.012000	0.15200	0.012000	0.07955	0.688000	0.25422	-0.354000	0.08212	-0.350000	0.07774	CAC	ZNF267	-	NULL	ENSG00000185947		0.303	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	-	0	105	0	C	NM_003414		31926132	1	tier1	-	no_errors	ENST00000300870	ensembl	human	known	74_37	missense	31.52	63	29	SNP	0.006	G	G	31926132	C	G	31926132	3	3	184	1	0	0	0	0	1	0	0	0	17854	826	29	5	576	5	ZNF267	16	31926132	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	921395	31926132	58428621	357	46034											
PHKB	5257	genome.wustl.edu	37	chr16	47683022	47683022	+	Missense_Mutation	SNP	T	T	G	0	1	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	cccttacagatttatcgcatTctaggaaagactgtggtttg	10	14	9	8	1	1	2	0	0	1	2	2	3	1	3	1	2	1	2	1	2	4	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:47683022T>G	ENST00000323584.5	+	18	1728	c.1704T>G	c.(1702-1704)atT>atG	p.I568M	PHKB_ENST00000566044.1_Missense_Mutation_p.I561M|PHKB_ENST00000299167.8_Missense_Mutation_p.I568M|PHKB_ENST00000455779.1_Missense_Mutation_p.I561M	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	568					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)				TTTATCGCATTCTAGGAAAGA	0.343																																																	0													148	137	141					16																	47683022		2201	4300	6501	SO:0001583	missense	0				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.1704T>G	16.37:g.47683022T>G	ENSP00000313504:p.Ile568Met		Q8N4T5	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.I568M	ENST00000323584.5	37	c.1704	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	T	17.27	3.347951	0.61183	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.92149	-2.98;-2.98	5.89	-0.71	0.11234	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.94231	0.8148	M	0.81942	2.565	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.78314	0.991;0.982	D	0.91388	0.5133	10	0.72032	D	0.01	-25.6867	6.3407	0.21321	0.1506:0.4165:0.0:0.4329	.	568;561	Q93100;Q93100-4	KPBB_HUMAN;.	M	561;561;568	ENSP00000414345:I561M;ENSP00000313504:I568M	ENSP00000299167:I561M	I	+	3	3	PHKB	46240523	0.997000	0.39634	0.911000	0.35937	0.751000	0.42716	0.362000	0.20284	-0.098000	0.12285	0.477000	0.44152	ATT	PHKB	-	pfam_Glyco_hydro_15	ENSG00000102893		0.343	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	-	0	76	0	T			47683022	1	tier1	-	no_errors	ENST00000299167	ensembl	human	known	74_37	missense	12.37	85	12	SNP	0.996	G	G	47683022	T	G	47683022	3	3	184	1	0	0	0	0	1	0	0	0	11884	1771	62	4	1833	4	PHKB	16	47683022	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	15756890	47683022	42671731	358	46035											
MMP2	4313	genome.wustl.edu	37	chr16	55527132	55527132	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctgggccctgtcactcctGagatctgcaaacaggacatt	9	9	10	13	1	2	1	1	1	1	1	3	3	3	2	2	2	2	2	2	2	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:55527132G>C	ENST00000219070.4	+	9	1908	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	MMP2_ENST00000570308.1_Missense_Mutation_p.E391Q|MMP2_ENST00000437642.2_Missense_Mutation_p.E417Q|MMP2_ENST00000543485.1_Missense_Mutation_p.E391Q	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	467	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGTCACTCCTGAGATCTGCAA	0.572																																																	0													147	132	137					16																	55527132		2198	4300	6498	SO:0001583	missense	0				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1399G>C	16.37:g.55527132G>C	ENSP00000219070:p.Glu467Gln		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.E467Q	ENST00000219070.4	37	c.1399	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046717	0.55110	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.09255	3.0;3.0;3.0	5.4	5.4	0.78164	Hemopexin/matrixin (2);	0.049185	0.85682	D	0.000000	T	0.10852	0.0265	L	0.43923	1.385	0.45452	D	0.998429	B;P	0.38440	0.004;0.631	B;B	0.25506	0.002;0.061	T	0.04885	-1.0920	10	0.59425	D	0.04	.	19.1698	0.93572	0.0:0.0:1.0:0.0	.	417;467	E9PE45;P08253	.;MMP2_HUMAN	Q	467;391;417	ENSP00000219070:E467Q;ENSP00000444143:E391Q;ENSP00000394237:E417Q	ENSP00000219070:E467Q	E	+	1	0	MMP2	54084633	1.000000	0.71417	0.937000	0.37676	0.898000	0.52572	7.836000	0.86788	2.543000	0.85770	0.563000	0.77884	GAG	MMP2	-	superfamily_Hemopexin-like_dom	ENSG00000087245		0.572	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	-	0	33	0	G			55527132	1	tier1	-	no_errors	ENST00000219070	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.997	C	C	55527132	G	C	55527132	3	2	184	1	0	0	0	0	1	0	0	0	9696	1291	45	5	1440	5	MMP2	16	55527132	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	7844110	55527132	34827621	359	46036											
FAM92B	339145	genome.wustl.edu	37	chr16	85141485	85141485	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgagggtgacttctgcctCagtttctccagtttttccag	5	15	9	12	1	3	1	1	1	2	0	6	2	5	1	4	1	1	2	4	1	0	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:85141485C>G	ENST00000539556.1	-	4	548	c.393G>C	c.(391-393)ctG>ctC	p.L131L		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	131										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						ACTTCTGCCTCAGTTTCTCCA	0.502																																																	0													204	198	200					16																	85141485		2198	4300	6498	SO:0001819	synonymous_variant	0				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.393G>C	16.37:g.85141485C>G				Silent	SNP	pfam_FAM92	p.L131	ENST00000539556.1	37	c.393	CCDS32500.1	16																																																																																			FAM92B	-	pfam_FAM92	ENSG00000153789		0.502	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92B	HGNC	protein_coding		-	0	40	0	C	NM_198491		85141485	-1	tier1	-	no_errors	ENST00000539556	ensembl	human	known	74_37	silent	29.17	17	7	SNP	0.999	G	G	85141485	C	G	85141485	2	3	184	1	0	0	0	0	0	0	0	1	5675	813	29	5		5	FAM92B	16	85141485	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	29614353	85141485	5213268	360	46037											
FAM92B	339145	genome.wustl.edu	37	chr16	85141517	85141517	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttccagttgtttgatctCatgattttggacatgtttga	7	21	8	5	0	1	3	1	3	1	0	3	4	2	4	1	1	0	3	1	1	0	7			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr16:85141517C>G	ENST00000539556.1	-	4	516	c.361G>C	c.(361-363)Gag>Cag	p.E121Q		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	121										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						TGTTTGATCTCATGATTTTGG	0.512																																																	0													210	201	204					16																	85141517		2198	4300	6498	SO:0001583	missense	0				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.361G>C	16.37:g.85141517C>G	ENSP00000443411:p.Glu121Gln			Missense_Mutation	SNP	pfam_FAM92	p.E121Q	ENST00000539556.1	37	c.361	CCDS32500.1	16	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013838	0.75161	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.58797	0.31	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000002	T	0.79975	0.4539	M	0.86420	2.815	0.48040	D	0.999573	D	0.89917	1.0	D	0.91635	0.999	T	0.82774	-0.0291	10	0.72032	D	0.01	-52.3307	17.345	0.87308	0.0:1.0:0.0:0.0	.	121	Q6ZTR7	FA92B_HUMAN	Q	121	ENSP00000443411:E121Q	ENSP00000376937:E121Q	E	-	1	0	FAM92B	83699018	1.000000	0.71417	0.956000	0.39512	0.418000	0.31294	5.047000	0.64232	2.702000	0.92279	0.498000	0.49722	GAG	FAM92B	-	pfam_FAM92	ENSG00000153789		0.512	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92B	HGNC	protein_coding		-	0	42	0	C	NM_198491		85141517	-1	tier1	-	no_errors	ENST00000539556	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	G	G	85141517	C	G	85141517	3	3	184	1	0	0	0	0	1	0	0	0	5675	835	29	5	573	5	FAM92B	16	85141517	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	32	85141517	5213236	361	46038											
SGSM2	9905	genome.wustl.edu	37	chr17	2278855	2278855	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagattccagaccaaaacctGagcaggaagcaggacccggg	15	3	12	11	1	0	3	0	1	0	2	1	5	1	5	4	3	3	2	4	3	4	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:2278855G>C	ENST00000426855.2	+	17	2210	c.2035G>C	c.(2035-2037)Gag>Cag	p.E679Q	SGSM2_ENST00000574563.1_Missense_Mutation_p.E679Q|RP1-59D14.5_ENST00000574290.1_RNA|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Missense_Mutation_p.E724Q	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	679	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ACCAAAACCTGAGCAGGAAGC	0.622																																																	0													52	63	59					17																	2278855		2203	4300	6503	SO:0001583	missense	0			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.2035G>C	17.37:g.2278855G>C	ENSP00000415107:p.Glu679Gln		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.E724Q	ENST00000426855.2	37	c.2170	CCDS45570.1	17	.	.	.	.	.	.	.	.	.	.	g	6.332	0.429403	0.11987	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.11604	2.76;2.79	5.55	4.58	0.56647	Rab-GAP/TBC domain (3);	0.312551	0.36268	N	0.002687	T	0.05731	0.0150	N	0.05050	-0.12	0.22280	N	0.999235	P;B;P	0.42409	0.496;0.309;0.779	B;B;B	0.41036	0.217;0.058;0.346	T	0.36817	-0.9732	10	0.15499	T	0.54	-1.2471	11.7459	0.51819	0.0814:0.0:0.9186:0.0	.	679;679;724	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	Q	724;679	ENSP00000268989:E724Q;ENSP00000415107:E679Q	ENSP00000268989:E724Q	E	+	1	0	SGSM2	2225605	0.058000	0.20735	0.123000	0.21794	0.114000	0.19823	2.009000	0.40903	1.353000	0.45828	0.651000	0.88453	GAG	SGSM2	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000141258		0.622	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	-	0	50	0	G	NM_014853		2278855	1	tier1	-	no_errors	ENST00000268989	ensembl	human	known	74_37	missense	35.90	25	14	SNP	0.594	C	C	2278855	G	C	2278855	3	2	184	1	0	0	0	0	1	0	0	0	14268	1291	45	5	2240	5	SGSM2	17	2278855	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09		2278855	78916355	362	46039											
MNT	4335	genome.wustl.edu	37	chr17	2290288	2290288	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaccagctgggggtggtgCaccacctgagcccccacggc	6	4	13	18	1	0	1	0	1	0	0	0	1	0	1	6	4	3	2	6	4	0	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:2290288C>A	ENST00000174618.4	-	6	2061	c.1656G>T	c.(1654-1656)gtG>gtT	p.V552V	RP1-59D14.1_ENST00000571775.1_RNA|MNT_ENST00000575374.1_5'Flank	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	552					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)		GGGGGTGGTGCACCACCTGAG	0.667																																																	0													26	24	25					17																	2290288		2185	4280	6465	SO:0001819	synonymous_variant	0			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.1656G>T	17.37:g.2290288C>A			A8K6D1|D3DTI7|Q1ED38	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.V552	ENST00000174618.4	37	c.1656	CCDS11018.1	17																																																																																			MNT	-	NULL	ENSG00000070444		0.667	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNT	HGNC	protein_coding	OTTHUMT00000207158.1	-	0	51	0	C	NM_020310		2290288	-1	tier1	-	no_errors	ENST00000174618	ensembl	human	known	74_37	silent	36.00	32	18	SNP	1.000	A	A	2290288	C	A	2290288	2	1	184	1	0	0	0	0	0	0	0	1	9716	697	25	3		3	MNT	17	2290288	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	11433	2290288	78904922	363	46040											
OR3A3	8392	genome.wustl.edu	37	chr17	3324821	3324821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtggggaagcgatcactGacctgagagatgacctcctt	9	10	12	10	1	1	4	1	3	0	1	2	7	2	5	3	2	1	0	3	2	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:3324821G>A	ENST00000291231.1	+	1	960	c.960G>A	c.(958-960)ctG>ctA	p.L320L		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	320					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						AGCGATCACTGACCTGAGAGA	0.453																																																	0													68	71	70					17																	3324821		2203	4300	6503	SO:0001819	synonymous_variant	0			U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.960G>A	17.37:g.3324821G>A			Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L320	ENST00000291231.1	37	c.960	CCDS11025.1	17																																																																																			OR3A3	-	NULL	ENSG00000159961		0.453	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A3	HGNC	protein_coding	OTTHUMT00000207309.1	-	0	42	0	G			3324821	1	tier1	-	no_errors	ENST00000291231	ensembl	human	known	74_37	silent	45.24	23	19	SNP	0.001	A	A	3324821	G	A	3324821	2	1	184	1	0	0	0	0	0	0	0	1	11078	1277	45	3		3	OR3A3	17	3324821	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1034533	3324821	77870389	364	46041											
ASPA	443	genome.wustl.edu	37	chr17	3385000	3385000	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcctatgacattatttttGaccttcacaacaccacctct	11	15	2	13	0	2	2	1	2	1	0	3	2	3	2	4	0	1	0	4	0	3	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:3385000G>C	ENST00000263080.2	+	2	498	c.340G>C	c.(340-342)Gac>Cac	p.D114H	ASPA_ENST00000456349.2_Missense_Mutation_p.D114H|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	114			D -> E (in CAND; <0.5% residual enzyme activity). {ECO:0000269|PubMed:8659549}.|D -> Y (in CAND). {ECO:0000269|PubMed:12205125}.		aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CATTATTTTTGACCTTCACAA	0.338																																																	0			GRCh37	CM023014	ASPA	M							81	76	77					17																	3385000		2203	4300	6503	SO:0001583	missense	0			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"aminoacylase 2", "Canavan disease"	608034	"aspartoacylase (aminoacylase 2, Canavan disease)"			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.340G>C	17.37:g.3385000G>C	ENSP00000263080:p.Asp114His			Missense_Mutation	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.D114H	ENST00000263080.2	37	c.340	CCDS11028.1	17	.	.	.	.	.	.	.	.	.	.	g	25.3	4.623082	0.87460	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.99948	-8.67;-8.67	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.99953	0.9980	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96134	0.9095	10	0.87932	D	0	-15.6626	19.0107	0.92871	0.0:0.0:1.0:0.0	.	114	P45381	ACY2_HUMAN	H	114	ENSP00000409976:D114H;ENSP00000263080:D114H	ENSP00000263080:D114H	D	+	1	0	ASPA	3331750	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.631000	0.98424	2.812000	0.96745	0.557000	0.71058	GAC	ASPA	-	pfam_Aste_AspA,pirsf_Aspartoacylase	ENSG00000108381		0.338	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	HGNC	protein_coding	OTTHUMT00000207315.1	-	0	79	0	G	NM_000049		3385000	1	tier1	-	no_errors	ENST00000263080	ensembl	human	known	74_37	missense	20.93	68	18	SNP	1.000	C	C	3385000	G	C	3385000	3	2	184	1	0	0	0	0	1	0	0	0	1051	1290	45	5	346	5	ASPA	17	3385000	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	60179	3385000	77810210	365	46042											
ZMYND15	84225	genome.wustl.edu	37	chr17	4643965	4643965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagccttgagggccgctgccGgcagctggaggcccagatca	7	6	15	13	2	1	2	1	1	0	1	1	3	1	3	4	4	3	3	4	4	1	2	rs143444568		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:4643965G>A	ENST00000433935.1	+	2	179	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	ZMYND15_ENST00000269289.6_Missense_Mutation_p.R41Q|ZMYND15_ENST00000573751.2_Missense_Mutation_p.R41Q|ZMYND15_ENST00000592813.1_Missense_Mutation_p.R41Q|CXCL16_ENST00000574412.1_5'Flank|CXCL16_ENST00000293778.6_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	41					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGCCGCTGCCGGCAGCTGGAG	0.612																																																	0								G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	55	55	55		122,122	4.3	0.9	17	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	ZMYND15	NM_001136046.1,NM_032265.1	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	41/743,41/704	4643965	1,13005	2203	4300	6503	SO:0001583	missense	0			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.122G>A	17.37:g.4643965G>A	ENSP00000391742:p.Arg41Gln		B4DXY5|I3L296	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.R41Q	ENST00000433935.1	37	c.122	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	G	9.158	1.017991	0.19355	2.27E-4	0.0	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.55413	0.53;0.52	5.26	4.3	0.51218	.	0.313877	0.22687	N	0.056869	T	0.33294	0.0858	N	0.14661	0.345	0.18873	N	0.999989	B;B	0.17268	0.021;0.019	B;B	0.09377	0.004;0.002	T	0.17167	-1.0378	10	0.38643	T	0.18	-0.1235	9.7128	0.40256	0.0932:0.0:0.9068:0.0	.	41;41	B4DXY5;Q9H091	.;ZMY15_HUMAN	Q	41	ENSP00000391742:R41Q;ENSP00000269289:R41Q	ENSP00000269289:R41Q	R	+	2	0	ZMYND15	4590714	0.918000	0.31147	0.932000	0.37286	0.038000	0.13279	2.784000	0.47774	1.464000	0.47987	0.643000	0.83706	CGG	ZMYND15	-	NULL	ENSG00000141497		0.612	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1		0	24	0	G	NM_032265		4643965	1			no_errors	ENST00000433935	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.490	A	A	4643965	G	A	4643965	3	1	184	1	0	0	0	0	1	0	0	0	17756	1116	39	1	124	1	ZMYND15	17	4643965	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1258965	4643965	76551245	366	46043											
TP53	7157	genome.wustl.edu	37	chr17	7577118	7577118	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcccaggacaggcacaaaCacgcacctcaaagctgttcc	12	6	7	16	1	2	0	1	0	1	0	4	1	3	1	3	2	2	4	3	2	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:7577118C>G	ENST00000269305.4	-	8	1009	c.820G>C	c.(820-822)Gtt>Ctt	p.V274L	TP53_ENST00000359597.4_Missense_Mutation_p.V274L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V274L|TP53_ENST00000445888.2_Missense_Mutation_p.V274L|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V274L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGCACAAACACGCACCTCA	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"	54	Substitution - Missense(36)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Unknown(2)	large_intestine(9)|breast(7)|upper_aerodigestive_tract(6)|ovary(4)|prostate(4)|bone(4)|central_nervous_system(3)|urinary_tract(3)|lung(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|adrenal_gland(1)|stomach(1)|soft_tissue(1)|liver(1)											69	60	63					17																	7577118		2203	4300	6503	SO:0001583	missense	0	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.820G>C	17.37:g.7577118C>G	ENSP00000269305:p.Val274Leu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V274L	ENST00000269305.4	37	c.820	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397576	0.42512	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99812	-6.88;-6.88;-6.88;-6.88;-6.88;-6.88	4.92	-0.763	0.11030	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.312804	0.33382	N	0.004980	D	0.99411	0.9792	M	0.87456	2.885	0.34283	D	0.682342	B;B;B;B	0.28584	0.216;0.067;0.087;0.049	B;B;B;B	0.40375	0.185;0.096;0.327;0.195	D	0.99980	1.2436	10	0.87932	D	0	-10.2267	9.2232	0.37390	0.0:0.5803:0.0:0.4197	.	274;274;274;274	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	274;274;274;274;274;263;142	ENSP00000352610:V274L;ENSP00000269305:V274L;ENSP00000398846:V274L;ENSP00000391127:V274L;ENSP00000391478:V274L;ENSP00000425104:V142L	ENSP00000269305:V274L	V	-	1	0	TP53	7517843	0.002000	0.14202	0.148000	0.22405	0.724000	0.41520	-0.002000	0.12924	-0.004000	0.14419	0.462000	0.41574	GTT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	34	0	C	NM_000546		7577118	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.074	G	G	7577118	C	G	7577118	3	3	184	1	0	0	0	0	1	0	0	0	16429	478	17	5	466	5	TP53	17	7577118	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2933153	7577118	73618092	367	46044											
SREBF1	6720	genome.wustl.edu	37	chr17	17721640	17721640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctggttgctgtgttgcaGaaagcgaatgtagtcgatgg	8	14	14	5	2	1	1	0	0	1	1	2	3	1	1	0	2	3	5	0	2	3	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:17721640G>C	ENST00000261646.5	-	6	1301	c.1117C>G	c.(1117-1119)Ctg>Gtg	p.L373V	SREBF1_ENST00000395757.1_Missense_Mutation_p.L119V|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000338854.5_Missense_Mutation_p.L373V|SREBF1_ENST00000435530.2_Missense_Mutation_p.L373V|SREBF1_ENST00000355815.4_Missense_Mutation_p.L403V	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	373	Interaction with LMNA. {ECO:0000250}.|Leucine-zipper.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTGTGTTGCAGAAAGCGAATG	0.562																																																	0													150	118	129					17																	17721640		2203	4300	6503	SO:0001583	missense	0			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1117C>G	17.37:g.17721640G>C	ENSP00000261646:p.Leu373Val		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.L403V	ENST00000261646.5	37	c.1207	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.59|17.59	3.426285|3.426285	0.62733|0.62733	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530|ENST00000395751	D;D;D;D;D|.	0.99445|.	-5.91;-5.91;-5.91;-5.91;-5.91|.	5.13|5.13	1.66|1.66	0.24008|0.24008	Helix-loop-helix DNA-binding (5);|.	0.076328|.	0.53938|.	D|.	0.000046|.	T|T	0.78515|0.78515	0.4295|0.4295	M|M	0.93197|0.93197	3.39|3.39	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D|.	0.71674|.	0.985;0.961;0.997;0.998|.	D;D;D;D|.	0.68353|.	0.927;0.939;0.957;0.928|.	T|T	0.77354|0.77354	-0.2619|-0.2619	10|5	0.56958|.	D|.	0.05|.	-10.104|-10.104	8.107|8.107	0.30892|0.30892	0.2799:0.0:0.7201:0.0|0.2799:0.0:0.7201:0.0	.|.	373;349;373;403|.	B0I4X3;B0I4X4;P36956;P36956-4|.	.;.;SRBP1_HUMAN;.|.	V|C	373;403;373;119;210;299;373|380	ENSP00000345822:L373V;ENSP00000348069:L403V;ENSP00000261646:L373V;ENSP00000379106:L119V;ENSP00000413389:L373V|.	ENSP00000261646:L373V|.	L|S	-|-	1|2	2|0	SREBF1|SREBF1	17662365|17662365	1.000000|1.000000	0.71417|0.71417	0.880000|0.880000	0.34516|0.34516	0.632000|0.632000	0.37999|0.37999	2.564000|2.564000	0.45931|0.45931	0.031000|0.031000	0.15407|0.15407	-0.258000|-0.258000	0.10820|0.10820	CTG|TCT	SREBF1	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000072310		0.562	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	-	0	50	0	G	NM_004176		17721640	-1	tier1	-	no_errors	ENST00000355815	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	C	C	17721640	G	C	17721640	3	2	184	1	0	0	0	0	1	0	0	0	15188	933	33	5	2382	5	SREBF1	17	17721640	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	10144522	17721640	63473570	368	46045											
MYO1D	4642	genome.wustl.edu	37	chr17	30981621	30981621	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccggaatgctcttgatGagctgggatgctctccatct	7	11	13	10	1	3	2	0	2	3	0	4	5	3	4	2	3	3	3	2	3	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:30981621G>T	ENST00000318217.5	-	18	2668	c.2364C>A	c.(2362-2364)ctC>ctA	p.L788L	MYO1D_ENST00000579584.1_Silent_p.L788L|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Silent_p.L700L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	788					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)			TGCTCTTGATGAGCTGGGATG	0.473																																																	0													51	49	50					17																	30981621		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2364C>A	17.37:g.30981621G>T			A6H8V3|Q8NHP9	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L788	ENST00000318217.5	37	c.2364	CCDS32615.1	17																																																																																			MYO1D	-	NULL	ENSG00000176658		0.473	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	-	0	22	0	G			30981621	-1	tier1	-	no_errors	ENST00000318217	ensembl	human	known	74_37	silent	33.33	20	10	SNP	0.996	T	T	30981621	G	T	30981621	2	4	184	1	0	0	0	0	0	0	0	1	10109	1277	45	3		3	MYO1D	17	30981621	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	13259981	30981621	50213589	369	46046											
TAF15	8148	genome.wustl.edu	37	chr17	34171853	34171853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agatcgaggaggttatggagGagatcgaggaggctatggag	12	7	19	3	2	0	2	0	0	0	2	2	9	0	6	0	7	0	2	0	7	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:34171853G>C	ENST00000588240.1	+	15	1665	c.1550G>C	c.(1549-1551)gGa>gCa	p.G517A	TAF15_ENST00000311979.3_Missense_Mutation_p.G514A|TAF15_ENST00000592237.1_Intron	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ggttatggaggagatcgagga	0.607			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																			Dom	yes		17	17q11.1-q11.2	8148	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"		"L, M"	0													84	78	80					17																	34171853		2203	4300	6503	SO:0001583	missense	0			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1550G>C	17.37:g.34171853G>C	ENSP00000466950:p.Gly517Ala		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.G517A	ENST00000588240.1	37	c.1550	CCDS32623.1	17	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567543	0.45694	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	D	0.94828	-3.53	4.38	4.38	0.52667	.	.	.	.	.	D	0.91331	0.7266	N	0.22421	0.69	0.27266	N	0.95851	P;P	0.45474	0.779;0.859	B;P	0.44477	0.264;0.451	D	0.86909	0.2059	9	0.87932	D	0	-3.3403	15.2273	0.73361	0.0:0.0:1.0:0.0	.	517;514	Q92804;Q92804-2	RBP56_HUMAN;.	A	517;320	ENSP00000309558:G517A	ENSP00000309558:G517A	G	+	2	0	TAF15	31195966	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.961000	0.87903	2.384000	0.81235	0.591000	0.81541	GGA	TAF15	-	NULL	ENSG00000172660		0.607	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF15	HGNC	protein_coding	OTTHUMT00000449134.1	-	0	51	0	G	NM_139215		34171853	1	tier1	-	no_errors	ENST00000588240	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	C	C	34171853	G	C	34171853	3	2	184	1	0	0	0	0	1	0	0	0	15565	1174	41	5	1608	5	TAF15	17	34171853	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3190232	34171853	47023357	370	46047											
SRCIN1	80725	genome.wustl.edu	37	chr17	36719704	36719704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtgtccaggctgctgacctCgtgcgtgatgtgcacgcgcc	4	9	14	14	5	0	2	0	2	0	0	2	2	1	2	3	1	3	3	3	1	0	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:36719704C>T	ENST00000264659.7	-	5	819	c.595G>A	c.(595-597)Gag>Aag	p.E199K	SRCIN1_ENST00000578925.1_Missense_Mutation_p.E233K|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	71					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						CTGCTGACCTCGTGCGTGATG	0.637																																																	0													40	44	43					17																	36719704		2172	4236	6408	SO:0001583	missense	0				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.595G>A	17.37:g.36719704C>T	ENSP00000264659:p.Glu199Lys		Q75T46|Q8N4W8	Missense_Mutation	SNP	pfam_AIP3_C	p.E199K	ENST00000264659.7	37	c.595	CCDS45660.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.588948	0.96590	.	.	ENSG00000017373	ENST00000264659;ENST00000398579	T	0.64991	-0.13	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.79441	0.4446	M	0.73598	2.24	0.48901	D	0.999726	P;D;D;D	0.89917	0.947;1.0;1.0;1.0	B;D;D;D	0.85130	0.427;0.99;0.99;0.997	T	0.82116	-0.0616	10	0.87932	D	0	-32.2278	17.4279	0.87531	0.0:1.0:0.0:0.0	.	53;71;71;199	B4DHC2;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	K	199;53	ENSP00000264659:E199K	ENSP00000264659:E199K	E	-	1	0	SRCIN1	33973230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.736000	0.68597	2.477000	0.83638	0.650000	0.86243	GAG	SRCIN1	-	pfam_AIP3_C	ENSG00000017373		0.637	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRCIN1	HGNC	protein_coding	OTTHUMT00000441878.4	-	0	52	0	C	NM_025248		36719704	-1	tier1	-	no_errors	ENST00000264659	ensembl	human	known	74_37	missense	38.00	31	19	SNP	1.000	T	T	36719704	C	T	36719704	3	4	184	1	0	0	0	0	1	0	0	0	15183	893	31	1	3016	1	SRCIN1	17	36719704	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2547851	36719704	44475506	371	46048											
SLC25A39	51629	genome.wustl.edu	37	chr17	42397473	42397473	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggggcagccttgatgatccGaggaaggaagcctgcagtgg	9	6	18	8	1	0	2	0	2	0	0	1	5	1	4	3	5	3	2	3	5	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:42397473G>C	ENST00000377095.5	-	12	1095	c.976C>G	c.(976-978)Cgg>Ggg	p.R326G	SLC25A39_ENST00000586016.1_Missense_Mutation_p.R194G|SLC25A39_ENST00000590194.1_Missense_Mutation_p.R318G|SLC25A39_ENST00000537904.2_Missense_Mutation_p.R303G|SLC25A39_ENST00000225308.8_Missense_Mutation_p.R318G	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	326					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TTGATGATCCGAGGAAGGAAG	0.617																																																	0													77	78	78					17																	42397473		2203	4300	6503	SO:0001583	missense	0			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.976C>G	17.37:g.42397473G>C	ENSP00000366299:p.Arg326Gly		A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.R326G	ENST00000377095.5	37	c.976	CCDS45700.1	17	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160639	0.38119	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80824	-1.42;-1.42;-1.42	5.25	1.73	0.24493	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89949	0.6863	M	0.87617	2.895	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	0.91274	0.5046	10	0.87932	D	0	-9.8903	14.6678	0.68921	0.0:0.0:0.7198:0.2802	.	303;326;318	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	G	318;326;303	ENSP00000225308:R318G;ENSP00000366299:R326G;ENSP00000444540:R303G	ENSP00000225308:R318G	R	-	1	2	SLC25A39	39752999	0.998000	0.40836	0.697000	0.30258	0.152000	0.21847	2.828000	0.48120	0.484000	0.27630	-0.457000	0.05445	CGG	SLC25A39	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000013306		0.617	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A39	HGNC	protein_coding	OTTHUMT00000457745.1	-	0	84	0	G	NM_016016		42397473	-1	tier1	-	no_errors	ENST00000377095	ensembl	human	known	74_37	missense	33.90	39	20	SNP	0.784	C	C	42397473	G	C	42397473	3	2	184	1	0	0	0	0	1	0	0	0	14548	1057	37	5	107	5	SLC25A39	17	42397473	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	5677769	42397473	38797737	372	46049											
CRHR1	1394	genome.wustl.edu	37	chr17	43907863	43907863	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgttcggcgagggctgctaCctgcacacagccatcgtgct	7	9	12	13	3	0	0	0	0	0	0	2	1	0	0	2	2	5	5	2	2	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:43907863C>A	ENST00000398285.3	+	8	723	c.723C>A	c.(721-723)taC>taA	p.Y241*	CRHR1_ENST00000352855.5_Nonsense_Mutation_p.Y172*|CRHR1_ENST00000577353.1_Nonsense_Mutation_p.Y212*|CRHR1_ENST00000339069.5_Nonsense_Mutation_p.Y111*|CRHR1_ENST00000293493.7_Nonsense_Mutation_p.Y37*|CRHR1_ENST00000314537.5_Nonsense_Mutation_p.Y212*	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	241					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)		AGGGCTGCTACCTGCACACAG	0.612																																					Ovarian(110;57 1568 10207 38216 49865)												0													95	98	97					17																	43907863		2202	4300	6502	SO:0001587	stop_gained	0			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.723C>A	17.37:g.43907863C>A	ENSP00000381333:p.Tyr241*		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt	p.Y241*	ENST00000398285.3	37	c.723	CCDS45712.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.635093	0.96682	.	.	ENSG00000120088	ENST00000293493;ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	.	.	.	5.27	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5921	0.50951	0.0:0.9125:0.0:0.0875	.	.	.	.	X	37;111;241;212;212;172	.	ENSP00000293493:Y37X	Y	+	3	2	CRHR1	41263644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.689000	0.46993	1.214000	0.43395	0.561000	0.74099	TAC	CRHR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000120088		0.612	CRHR1-001	KNOWN	basic|CCDS	protein_coding	CRHR1	HGNC	protein_coding	OTTHUMT00000441241.3	-	0	26	0	C			43907863	1	tier1	-	no_errors	ENST00000398285	ensembl	human	known	74_37	nonsense	38.24	21	13	SNP	1.000	A	A	43907863	C	A	43907863	4	1	184	1	0	0	0	0	0	1	0	0	3878	518	18	3	753	3	CRHR1	17	43907863	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1510390	43907863	37287347	373	46050											
C17orf71	55181	genome.wustl.edu	37	chr17	57288495	57288495	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaggagtcattgtactgtGaaggacccggaatctttgct	9	13	11	8	1	2	1	1	1	1	0	2	4	2	4	1	3	2	2	1	3	4	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:57288495G>A	ENST00000543872.2	+	2	1347	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V	SMG8_ENST00000578922.1_Silent_p.V361V|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Silent_p.V361V|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	361					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						ATTGTACTGTGAAGGACCCGG	0.537																																																	0													82	66	72					17																	57288495		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1083G>A	17.37:g.57288495G>A			Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	pfam_Smg8/Smg9	p.V361	ENST00000543872.2	37	c.1083	CCDS11615.1	17																																																																																			SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.537	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	-	0	70	0	G	NM_018149		57288495	1	tier1	-	no_errors	ENST00000300917	ensembl	human	known	74_37	silent	37.68	43	26	SNP	0.991	A	A	57288495	G	A	57288495	2	1	184	1	0	0	0	0	0	0	0	1	1884	1277	45	3		3	C17orf71	17	57288495	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	13380632	57288495	23906715	374	46051											
APPBP2	10513	genome.wustl.edu	37	chr17	58571889	58571889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctgattctgctatataaGagcaccgcctactgaatgag	12	11	8	10	1	2	4	0	3	2	1	2	4	2	4	2	0	3	2	2	0	5	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:58571889G>C	ENST00000083182.3	-	3	604	c.317C>G	c.(316-318)tCt>tGt	p.S106C		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	106					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TGCTATATAAGAGCACCGCCT	0.393																																																	0													97	94	95					17																	58571889		2203	4300	6503	SO:0001583	missense	0			AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.317C>G	17.37:g.58571889G>C	ENSP00000083182:p.Ser106Cys		A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S106C	ENST00000083182.3	37	c.317	CCDS32699.1	17	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536676	0.85812	.	.	ENSG00000062725	ENST00000083182	D	0.83673	-1.75	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.84465	0.5478	N	0.13098	0.295	0.80722	D	1	P	0.52842	0.956	D	0.64237	0.923	D	0.86101	0.1556	10	0.56958	D	0.05	0.0598	20.2165	0.98299	0.0:0.0:1.0:0.0	.	106	Q92624	APBP2_HUMAN	C	106	ENSP00000083182:S106C	ENSP00000083182:S106C	S	-	2	0	APPBP2	55926671	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.434000	0.97515	2.781000	0.95711	0.591000	0.81541	TCT	APPBP2	-	NULL	ENSG00000062725		0.393	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPBP2	HGNC	protein_coding	OTTHUMT00000449465.1	-	0	51	0	G	NM_006380		58571889	-1	tier1	-	no_errors	ENST00000083182	ensembl	human	known	74_37	missense	15.91	37	7	SNP	1.000	C	C	58571889	G	C	58571889	3	2	184	1	0	0	0	0	1	0	0	0	816	942	33	5	1484	5	APPBP2	17	58571889	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1283394	58571889	22623321	375	46052											
DDX5	1655	genome.wustl.edu	37	chr17	62496429	62496429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcatccttcatgcctcctCtacccctggaacgacctgtc	6	11	7	17	1	3	0	2	0	1	0	6	2	5	1	6	2	3	0	6	2	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:62496429C>G	ENST00000225792.5	-	13	1858	c.1457G>C	c.(1456-1458)aGa>aCa	p.R486T	DDX5_ENST00000578804.1_Missense_Mutation_p.R486T|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.R407T|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	486	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)			CATGCCTCCTCTACCCCTGGA	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	0													71	72	71					17																	62496429		2203	4300	6503	SO:0001583	missense	0			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.1457G>C	17.37:g.62496429C>G	ENSP00000225792:p.Arg486Thr		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R486T	ENST00000225792.5	37	c.1457	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	C	9.270	1.045376	0.19748	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.45	5.45	0.79879	.	0.097592	0.64402	D	0.000001	T	0.67636	0.2914	M	0.76170	2.325	0.80722	D	1	B;B;B	0.26081	0.141;0.137;0.137	B;B;B	0.18263	0.021;0.021;0.021	T	0.66610	-0.5880	9	0.49607	T	0.09	-12.9913	17.1403	0.86752	0.0:1.0:0.0:0.0	.	407;486;486	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	T	486;416;475	.	ENSP00000225792:R475T	R	-	2	0	DDX5	59926891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.935000	0.70145	2.712000	0.92718	0.591000	0.81541	AGA	DDX5	-	NULL	ENSG00000108654		0.418	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	-	0	26	0	C	NM_004396		62496429	-1	tier1	-	no_errors	ENST00000225792	ensembl	human	known	74_37	missense	40.00	18	12	SNP	1.000	G	G	62496429	C	G	62496429	3	3	184	1	0	0	0	0	1	0	0	0	4376	913	32	5	391	5	DDX5	17	62496429	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3924540	62496429	18698781	376	46053											
AMZ2	51321	genome.wustl.edu	37	chr17	66250605	66250605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatagcatgcactataaagGcaaagtgaagaagctcaaga	18	8	9	6	0	1	3	1	1	0	2	1	3	1	3	0	1	3	4	0	1	9	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:66250605G>T	ENST00000359904.3	+	5	1779	c.647G>T	c.(646-648)gGc>gTc	p.G216V	AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000580753.1_Missense_Mutation_p.G216V|AMZ2_ENST00000392720.2_Missense_Mutation_p.G216V|AMZ2_ENST00000577985.1_Missense_Mutation_p.G216V|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577866.1_Missense_Mutation_p.G216V|AMZ2_ENST00000359783.4_Missense_Mutation_p.G158V	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	216							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)			CACTATAAAGGCAAAGTGAAG	0.363																																																	0													102	95	98					17																	66250605		2203	4300	6503	SO:0001583	missense	0			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.647G>T	17.37:g.66250605G>T	ENSP00000352976:p.Gly216Val		A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	pfam_Pept_M54_archaemetzincn	p.G216V	ENST00000359904.3	37	c.647	CCDS11674.1	17	.	.	.	.	.	.	.	.	.	.	G	9.915	1.210496	0.22289	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.21543	2.0;2.0;2.0	5.12	5.12	0.69794	.	0.083576	0.46145	D	0.000305	T	0.47911	0.1471	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.973;0.989	T	0.46762	-0.9168	10	0.72032	D	0.01	-3.6771	16.9302	0.86188	0.0:0.0:1.0:0.0	.	158;216	A6NLD9;Q86W34	.;AMZ2_HUMAN	V	216;158;216	ENSP00000352976:G216V;ENSP00000352831:G158V;ENSP00000376481:G216V	ENSP00000352831:G158V	G	+	2	0	AMZ2	63762200	1.000000	0.71417	0.992000	0.48379	0.252000	0.25951	7.720000	0.84759	2.775000	0.95449	0.632000	0.83419	GGC	AMZ2	-	NULL	ENSG00000196704		0.363	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ2	HGNC	protein_coding	OTTHUMT00000448261.1	-	0	66	0	G	NM_016627		66250605	1	tier1	-	no_errors	ENST00000359904	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	66250605	G	T	66250605	3	4	184	1	0	0	0	0	1	0	0	0	597	1203	42	3	661	3	AMZ2	17	66250605	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3754176	66250605	14944605	377	46054											
CDC42EP4	23580	genome.wustl.edu	37	chr17	71282205	71282205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctccccgtcattggccttCttcacggggctggatgacag	5	10	11	15	2	3	1	2	1	1	0	4	2	4	2	4	4	0	1	4	4	0	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:71282205C>T	ENST00000335793.3	-	2	829	c.435G>A	c.(433-435)aaG>aaA	p.K145K	CDC42EP4_ENST00000439510.2_Silent_p.K75K|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	145					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)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CATTGGCCTTCTTCACGGGGC	0.657																																																	0													48	48	48					17																	71282205		2203	4300	6503	SO:0001819	synonymous_variant	0			AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"Cdc42 effector protein 4", "binder of Rho GTPases 4"	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.435G>A	17.37:g.71282205C>T			B3KUS7|O95828|Q96FT3	Silent	SNP	pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom	p.K145	ENST00000335793.3	37	c.435	CCDS11695.1	17																																																																																			CDC42EP4	-	NULL	ENSG00000179604		0.657	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP4	HGNC	protein_coding	OTTHUMT00000441898.1	-	0	19	0	C	NM_012121		71282205	-1	tier1	-	no_errors	ENST00000335793	ensembl	human	known	74_37	silent	56.10	18	23	SNP	1.000	T	T	71282205	C	T	71282205	2	4	184	1	0	0	0	0	0	0	0	1	3085	912	32	3		3	CDC42EP4	17	71282205	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	5031600	71282205	9913005	378	46055											
CCDC40	55036	genome.wustl.edu	37	chr17	78013862	78013862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagatacgacttacccGtatttcagtcctcctcagga	9	11	8	13	2	2	1	2	0	0	1	4	3	4	2	3	1	3	3	3	1	3	4	rs561961621		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:78013862G>A	ENST00000397545.4	+	3	372	c.345G>A	c.(343-345)ccG>ccA	p.P115P	CCDC40_ENST00000374877.3_Silent_p.P115P|CCDC40_ENST00000269318.5_Silent_p.P115P|CCDC40_ENST00000374876.4_Silent_p.P115P	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	115					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CGACTTACCCGTATTTCAGTC	0.527																																																	0													77	80	80					17																	78013862		1930	4136	6066	SO:0001819	synonymous_variant	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.345G>A	17.37:g.78013862G>A			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	pfam_E3_ubiquit_lig_BRE1	p.P115	ENST00000397545.4	37	c.345	CCDS42395.1	17																																																																																			CCDC40	-	NULL	ENSG00000141519		0.527	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	-	0	30	0	G	XM_371082		78013862	1	tier1	-	no_errors	ENST00000397545	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.000	A	A	78013862	G	A	78013862	2	1	184	1	0	0	0	0	0	0	0	1	2819	1132	40	1		1	CCDC40	17	78013862	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	6731657	78013862	3181348	379	46056											
CHMP6	79643	genome.wustl.edu	37	chr17	78969547	78969547	+	Missense_Mutation	SNP	A	A	G	1	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	ttggaaatgagtgtctgaacAagatgcaccaggtgagtctc	12	10	12	7	0	2	4	0	3	2	1	3	5	2	5	1	2	2	1	1	2	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr17:78969547A>G	ENST00000325167.5	+	4	415	c.337A>G	c.(337-339)Aag>Gag	p.K113E		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	113					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTGTCTGAACAAGATGCACCA	0.567																																																	0													96	82	87					17																	78969547		2203	4300	6503	SO:0001583	missense	0			BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"Charged multivesicular body proteins"	25675	protein-coding gene	gene with protein product		610901	"chromatin modifying protein 6"			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.337A>G	17.37:g.78969547A>G	ENSP00000317468:p.Lys113Glu		A8K7U0|Q53FU4|Q9HAE8	Missense_Mutation	SNP	pfam_Snf7	p.K113E	ENST00000325167.5	37	c.337	CCDS11774.1	17	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649024	0.47362	.	.	ENSG00000176108	ENST00000325167	T	0.72835	-0.69	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	L	0.35723	1.085	0.58432	D	0.999998	B	0.16166	0.016	B	0.15052	0.012	T	0.54456	-0.8291	10	0.21540	T	0.41	-6.6312	13.4405	0.61109	1.0:0.0:0.0:0.0	.	113	Q96FZ7	CHMP6_HUMAN	E	113	ENSP00000317468:K113E	ENSP00000317468:K113E	K	+	1	0	CHMP6	76584142	1.000000	0.71417	0.992000	0.48379	0.932000	0.56968	8.621000	0.90949	1.575000	0.49775	0.374000	0.22700	AAG	CHMP6	-	pfam_Snf7	ENSG00000176108		0.567	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP6	HGNC	protein_coding	OTTHUMT00000438215.1	-	0	34	0	A	NM_024591		78969547	1	tier1	-	no_errors	ENST00000325167	ensembl	human	known	74_37	missense	44.44	10	8	SNP	0.998	G	G	78969547	A	G	78969547	3	3	184	1	0	0	0	0	1	0	0	0	3367	131	5	4	351	4	CHMP6	17	78969547	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09	955685	78969547	2225663	380	46057											
COLEC12	81035	genome.wustl.edu	37	chr18	346689	346689	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagtcctgcaggtctttCaggttctgctcgttggcttg	4	16	12	9	1	3	0	1	0	2	0	5	0	4	0	1	3	2	6	1	3	1	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr18:346689C>A	ENST00000400256.3	-	5	1140	c.933G>T	c.(931-933)ctG>ctT	p.L311L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	311					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCAGGTCTTTCAGGTTCTGCT	0.478																																																	0													169	142	151					18																	346689		2203	4300	6503	SO:0001819	synonymous_variant	0			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.933G>T	18.37:g.346689C>A			Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.L311	ENST00000400256.3	37	c.933	CCDS32782.1	18																																																																																			COLEC12	-	NULL	ENSG00000158270		0.478	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	-	0	54	0	C			346689	-1	tier1	-	no_errors	ENST00000400256	ensembl	human	known	74_37	silent	20.00	60	15	SNP	1.000	A	A	346689	C	A	346689	2	1	184	1	0	0	0	0	0	0	0	1	3719	813	29	3		3	COLEC12	18	346689	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09		346689	77730559	381	46058											
MYOM1	8736	genome.wustl.edu	37	chr18	3131469	3131469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaaaatataactctgacCagtcactaatccatgacaag	16	8	6	11	1	2	2	1	2	1	0	3	3	3	3	3	1	1	0	3	1	6	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr18:3131469C>G	ENST00000356443.4	-	17	2743	c.2410G>C	c.(2410-2412)Ggt>Cgt	p.G804R	MYOM1_ENST00000400569.3_Missense_Mutation_p.G804R|MYOM1_ENST00000261606.7_Missense_Mutation_p.G804R|MYOM1_ENST00000582016.1_5'Flank	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	804	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.G804S(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TAACTCTGACCAGTCACTAAT	0.373																																																	1	Substitution - Missense(1)	skin(1)											73	63	66					18																	3131469		1830	4092	5922	SO:0001583	missense	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2410G>C	18.37:g.3131469C>G	ENSP00000348821:p.Gly804Arg		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G804R	ENST00000356443.4	37	c.2410	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520265	0.64747	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.62639	0.01;0.01;0.01	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.158879	0.56097	D	0.000030	D	0.83280	0.5220	M	0.90542	3.125	0.44562	D	0.997529	D;D	0.58620	0.983;0.975	D;D	0.68943	0.951;0.961	D	0.83857	0.0266	10	0.44086	T	0.13	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	804;804	P52179-2;P52179	.;MYOM1_HUMAN	R	804	ENSP00000348821:G804R;ENSP00000383413:G804R;ENSP00000261606:G804R	ENSP00000261606:G804R	G	-	1	0	MYOM1	3121469	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.049000	0.71053	2.718000	0.92993	0.655000	0.94253	GGT	MYOM1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000101605		0.373	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2		0	44	0	C	NM_003803		3131469	-1			no_errors	ENST00000356443	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	G	G	3131469	C	G	3131469	3	3	184	1	0	0	0	0	1	0	0	0	10129	594	21	5	2735	5	MYOM1	18	3131469	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2784780	3131469	74945779	382	46059											
ANKRD29	147463	genome.wustl.edu	37	chr18	21218851	21218851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgctccaaatccaaagaGaaatctcacgacatcattat	16	9	6	10	1	2	1	2	0	1	1	5	4	4	2	2	1	1	1	2	1	4	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr18:21218851G>C	ENST00000592179.1	-	4	446	c.292C>G	c.(292-294)Ctc>Gtc	p.L98V	ANKRD29_ENST00000322980.9_Missense_Mutation_p.L98V|ANKRD29_ENST00000284207.7_Missense_Mutation_p.L98V	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	98										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)					AATCCAAAGAGAAATCTCACG	0.423																																																	0													111	104	106					18																	21218851		2203	4300	6503	SO:0001583	missense	0			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.292C>G	18.37:g.21218851G>C	ENSP00000468354:p.Leu98Val		B2R972|Q6ZWE8|Q96LU9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L98V	ENST00000592179.1	37	c.292	CCDS11879.1	18	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540144	0.85917	.	.	ENSG00000154065	ENST00000322980;ENST00000284207	T;T	0.80480	-1.38;-1.38	5.69	5.69	0.88448	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.92453	0.7604	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	D	0.93524	0.6864	10	0.87932	D	0	.	18.9514	0.92642	0.0:0.0:1.0:0.0	.	98;98	Q8N6D5-3;Q8N6D5	.;ANR29_HUMAN	V	98	ENSP00000323387:L98V;ENSP00000284207:L98V	ENSP00000284207:L98V	L	-	1	0	ANKRD29	19472849	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.648000	0.91062	2.840000	0.97914	0.655000	0.94253	CTC	ANKRD29	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000154065		0.423	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD29	HGNC	protein_coding	OTTHUMT00000254825.1	-	0	64	0	G	NM_173505		21218851	-1	tier1	-	no_errors	ENST00000592179	ensembl	human	known	74_37	missense	15.38	65	12	SNP	1.000	C	C	21218851	G	C	21218851	3	2	184	1	0	0	0	0	1	0	0	0	657	942	33	5	641	5	ANKRD29	18	21218851	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	18087382	21218851	56858397	383	46060											
ZNF521	25925	genome.wustl.edu	37	chr18	22807516	22807516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctaaacgacttgtcacaGaattgacacgggtatggaag	13	8	12	8	3	1	2	1	1	0	1	1	4	1	3	0	3	1	2	0	3	5	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr18:22807516G>T	ENST00000361524.3	-	4	514	c.366C>A	c.(364-366)ttC>ttA	p.F122L	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_De_novo_Start_OutOfFrame|ZNF521_ENST00000538137.2_Missense_Mutation_p.F122L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	122					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)					ACTTGTCACAGAATTGACACG	0.512			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													111	104	107					18																	22807516		2203	4300	6503	SO:0001583	missense	0			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.366C>A	18.37:g.22807516G>T	ENSP00000354794:p.Phe122Leu		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F122L	ENST00000361524.3	37	c.366	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	G	9.009	0.982029	0.18812	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.49720	0.77;0.77	6.07	5.2	0.72013	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	0.45216	0.1331	N	0.05230	-0.09	0.30413	N	0.778881	D	0.76494	0.999	D	0.85130	0.997	T	0.48068	-0.9067	10	0.56958	D	0.05	-32.9052	10.3364	0.43852	0.2218:0.0:0.7782:0.0	.	122	Q96K83	ZN521_HUMAN	L	122;156;122	ENSP00000354794:F122L;ENSP00000382352:F122L	ENSP00000354794:F122L	F	-	3	2	ZNF521	21061514	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.211000	0.32382	2.885000	0.99019	0.655000	0.94253	TTC	ZNF521	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.512	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	50	0	G	NM_015461		22807516	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	15.49	60	11	SNP	1.000	T	T	22807516	G	T	22807516	3	4	184	1	0	0	0	0	1	0	0	0	18013	933	33	3	3589	3	ZNF521	18	22807516	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1588665	22807516	55269732	384	46061											
DSG4	147409	genome.wustl.edu	37	chr18	28993211	28993211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacccactacaattatttttGatcctcagcttgcacccaat	12	13	3	13	0	1	1	1	1	0	0	2	1	2	1	3	0	4	2	3	0	5	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr18:28993211G>C	ENST00000308128.4	+	16	2911	c.2776G>C	c.(2776-2778)Gat>Cat	p.D926H	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.D945H|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	926					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)			AATTATTTTTGATCCTCAGCT	0.428																																																	0													172	161	164					18																	28993211		2203	4300	6503	SO:0001583	missense	0			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.2776G>C	18.37:g.28993211G>C	ENSP00000311859:p.Asp926His		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.D945H	ENST00000308128.4	37	c.2833	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631687	0.46944	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.78481	-1.18;-1.18	5.51	5.51	0.81932	.	0.000000	0.36066	N	0.002813	D	0.87087	0.6090	M	0.64997	1.995	0.47276	D	0.999379	D;D	0.76494	0.999;0.997	D;D	0.78314	0.991;0.928	D	0.87634	0.2518	10	0.66056	D	0.02	.	19.0134	0.92884	0.0:0.0:1.0:0.0	.	945;926	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	H	926;945	ENSP00000311859:D926H;ENSP00000352785:D945H	ENSP00000311859:D926H	D	+	1	0	DSG4	27247209	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.822000	0.62686	2.563000	0.86464	0.655000	0.94253	GAT	DSG4	-	NULL	ENSG00000175065		0.428	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	-	0	37	0	G	NM_177986		28993211	1	tier1	-	no_errors	ENST00000359747	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	C	C	28993211	G	C	28993211	3	2	184	1	0	0	0	0	1	0	0	0	4793	1290	45	5	2959	5	DSG4	18	28993211	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	6185695	28993211	49084037	385	46062											
SMAD4	4089	genome.wustl.edu	37	chr18	48581229	48581229	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtccactgaaggacattCaattcaaaccatccagcatc	13	10	6	12	0	2	1	2	1	0	0	5	2	4	2	3	1	2	2	3	1	3	3	rs377767331		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr18:48581229C>G	ENST00000342988.3	+	5	1071	c.533C>G	c.(532-534)tCa>tGa	p.S178*	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S178*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S178*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	178					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAAGGACATTCAATTCAAACC	0.438																																																	39	Whole gene deletion(36)|Unknown(3)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	GRCh37	CM994756	SMAD4	M							196	138	157					18																	48581229		2203	4300	6503	SO:0001587	stop_gained	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.533C>G	18.37:g.48581229C>G	ENSP00000341551:p.Ser178*		A8K405	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S178*	ENST00000342988.3	37	c.533	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	41	9.156137	0.99084	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	.	0.282373	0.35378	N	0.003258	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	19.3335	0.94306	0.0:1.0:0.0:0.0	.	.	.	.	X	178	.	ENSP00000341551:S178X	S	+	2	0	SMAD4	46835227	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.952000	0.56691	2.937000	0.99478	0.650000	0.86243	TCA	SMAD4	-	NULL	ENSG00000141646		0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	-	0	34	0	C	NM_005359		48581229	1	tier1	-	no_errors	ENST00000342988	ensembl	human	known	74_37	nonsense	15.38	22	4	SNP	1.000	G	G	48581229	C	G	48581229	4	3	184	1	0	0	0	0	0	1	0	0	14805	838	29	5	547	5	SMAD4	18	48581229	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	19588018	48581229	29496019	386	46063											
MC4R	4160	genome.wustl.edu	37	chr18	58038944	58038944	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctggccatcaggaacatgtgGacatagagagaagccatgag	14	6	13	8	0	1	3	1	1	0	2	1	6	1	5	2	3	2	0	2	3	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr18:58038944G>C	ENST00000299766.3	-	1	1057	c.639C>G	c.(637-639)gtC>gtG	p.V213V		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	213					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GGAACATGTGGACATAGAGAG	0.498																																																	0													74	69	70					18																	58038944		2203	4300	6503	SO:0001819	synonymous_variant	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.639C>G	18.37:g.58038944G>C			B2RAC3|Q16317|Q3MIJ6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.V213	ENST00000299766.3	37	c.639	CCDS11976.1	18																																																																																			MC4R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Cnbnoid_rcpt	ENSG00000166603		0.498	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1	-	0	33	0	G	NM_005912		58038944	-1	tier1	-	no_errors	ENST00000299766	ensembl	human	known	74_37	silent	47.37	10	9	SNP	0.988	C	C	58038944	G	C	58038944	2	2	184	1	0	0	0	0	0	0	0	1	9404	1161	41	5		5	MC4R	18	58038944	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	9457715	58038944	20038304	387	46064											
CDH7	1005	genome.wustl.edu	37	chr18	63430240	63430240	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgggtgtggaatcagttCtttgtgctggaggaatacat	9	13	14	5	0	2	0	1	0	1	0	2	3	2	3	0	4	3	3	0	4	3	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr18:63430240C>G	ENST00000397968.2	+	2	588	c.162C>G	c.(160-162)ttC>ttG	p.F54L	CDH7_ENST00000323011.3_Missense_Mutation_p.F54L|CDH7_ENST00000536984.2_Missense_Mutation_p.F54L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	54	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)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAATCAGTTCTTTGTGCTGG	0.468																																																	0													87	81	83					18																	63430240		2203	4300	6503	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.162C>G	18.37:g.63430240C>G	ENSP00000381058:p.Phe54Leu		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F54L	ENST00000397968.2	37	c.162	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552029	0.86127	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.00567	6.54;6.54;6.54	5.57	5.57	0.84162	Cadherin-like (1);	0.057016	0.64402	D	0.000001	T	0.02083	0.0065	M	0.66439	2.03	0.80722	D	1	B;D	0.58268	0.381;0.982	B;D	0.65140	0.148;0.932	T	0.64964	-0.6283	10	0.52906	T	0.07	.	19.5581	0.95361	0.0:1.0:0.0:0.0	.	54;54	F5H5X9;Q9ULB5	.;CADH7_HUMAN	L	54	ENSP00000319166:F54L;ENSP00000443030:F54L;ENSP00000381058:F54L	ENSP00000319166:F54L	F	+	3	2	CDH7	61581220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.525000	0.53502	2.614000	0.88457	0.655000	0.94253	TTC	CDH7	-	superfamily_Cadherin-like	ENSG00000081138		0.468	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	-	0	78	0	C	NM_033646		63430240	1	tier1	-	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	34.38	42	22	SNP	1.000	G	G	63430240	C	G	63430240	3	3	184	1	0	0	0	0	1	0	0	0	3122	912	32	5	164	5	CDH7	18	63430240	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	5391296	63430240	14647008	388	46065											
CYB5A	1528	genome.wustl.edu	37	chr18	71920820	71920820	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacttctgaggaggtgttCagtcctctgccatgtatagg	7	13	12	9	0	3	2	1	2	2	0	4	3	4	3	2	3	1	2	2	3	2	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr18:71920820C>A	ENST00000340533.4	-	5	544	c.404G>T	c.(403-405)tGa>tTa	p.*135L	CYB5A_ENST00000299438.9_Nonstop_Mutation_p.*61L|CYB5A_ENST00000579064.1_5'UTR|CYB5A_ENST00000494131.2_3'UTR|CYB5A_ENST00000397914.4_Nonstop_Mutation_p.*125L	NM_148923.3	NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	0					hydrogen ion transmembrane transport (GO:1902600)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	aldo-keto reductase (NADP) activity (GO:0004033)|cytochrome-c oxidase activity (GO:0004129)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)				AGGAGGTGTTCAGTCCTCTGC	0.498																																					NSCLC(176;1530 2076 2606 27426 50572)|Ovarian(151;328 1870 2837 37860 52175)												0													70	61	64					18																	71920820		2203	4300	6503	SO:0001578	stop_lost	0			M22865	CCDS12004.1, CCDS12005.1, CCDS54188.1	18q23	2006-01-30	2006-01-30	2006-01-30	ENSG00000166347	ENSG00000166347		"Cytochrome b genes"	2570	protein-coding gene	gene with protein product		613218	"cytochrome b-5", "cytochrome b5 (microsomal)"	CYB5		1840560	Standard	NM_148923		Approved		uc002lli.3	P00167	OTTHUMG00000132843	ENST00000340533.4:c.404G>T	18.37:g.71920820C>A			A8MV91|F8WEU4|Q6IB14	Nonstop_Mutation	SNP	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd	p.*135L	ENST00000340533.4	37	c.404	CCDS12004.1	18	.	.	.	.	.	.	.	.	.	.	C	3.108	-0.183323	0.06340	.	.	ENSG00000166347	ENST00000397914;ENST00000340533	.	.	.	5.62	0.931	0.19460	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9356	0.19163	0.1521:0.1238:0.0:0.724	.	.	.	.	L	125;135	.	.	X	-	2	2	CYB5A	70071800	0.644000	0.27277	0.009000	0.14445	0.003000	0.03518	1.426000	0.34870	-0.062000	0.13088	-0.140000	0.14226	TGA	CYB5A	-	NULL	ENSG00000166347		0.498	CYB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5A	HGNC	protein_coding	OTTHUMT00000256316.1	-	0	30	0	C	NM_001914, NM_148923		71920820	-1	tier1	-	no_errors	ENST00000340533	ensembl	human	known	74_37	nonstop	24.24	25	8	SNP	0.054	A	A	71920820	C	A	71920820	4	1	184	1	0	0	0	0	0	0	0	0	4131	837	29	3	4	3	CYB5A	18	71920820	Nonstop_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	8490580	71920820	6156428	389	46066											
GRIN3B	116444	genome.wustl.edu	37	chr19	1005401	1005401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagacgcaccgtgtccaGcaagacgcccaagtgcccca	10	5	9	17	3	1	2	1	0	0	2	2	2	2	2	5	0	2	2	5	0	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:1005401G>T	ENST00000234389.3	+	3	1920	c.1901G>T	c.(1900-1902)aGc>aTc	p.S634I	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	634					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)	ACCGTGTCCAGCAAGACGCCC	0.647																																																	0													117	110	112					19																	1005401		2203	4300	6503	SO:0001583	missense	0				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.1901G>T	19.37:g.1005401G>T	ENSP00000234389:p.Ser634Ile		Q5EAK7|Q7RTW9	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S634I	ENST00000234389.3	37	c.1901	CCDS32861.1	19	.	.	.	.	.	.	.	.	.	.	G	7.412	0.634889	0.14322	.	.	ENSG00000116032	ENST00000234389	T	0.24538	1.85	4.36	4.36	0.52297	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.099962	0.64402	U	0.000004	T	0.29288	0.0729	N	0.14661	0.345	0.34100	D	0.661802	D	0.76494	0.999	D	0.70487	0.969	T	0.13953	-1.0490	10	0.09590	T	0.72	.	15.5149	0.75815	0.0:0.0:1.0:0.0	.	634	O60391	NMD3B_HUMAN	I	634	ENSP00000234389:S634I	ENSP00000234389:S634I	S	+	2	0	GRIN3B	956401	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.651000	0.54431	2.012000	0.59069	0.306000	0.20318	AGC	GRIN3B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000116032		0.647	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2		0	24	0	G			1005401	1			no_errors	ENST00000234389	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	T	T	1005401	G	T	1005401	3	4	184	1	0	0	0	0	1	0	0	0	6811	971	34	3	1911	3	GRIN3B	19	1005401	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09		1005401	58123582	390	46067											
STK11	6794	genome.wustl.edu	37	chr19	1220640	1220640	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggctccccggctttcCagccgcccgagattgccaac	6	6	11	18	3	0	1	0	0	0	1	2	2	2	1	7	2	3	2	7	2	1	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:1220640C>T	ENST00000326873.7	+	5	1831	c.658C>T	c.(658-660)Cag>Tag	p.Q220*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Q220*(4)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGCTTTCCAGCCGCCCGA	0.711		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	26	Whole gene deletion(20)|Substitution - Nonsense(4)|Unknown(2)	cervix(14)|lung(8)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	GRCh37	CM991157	STK11	M							13	18	17					19																	1220640		1947	4128	6075	SO:0001587	stop_gained	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.658C>T	19.37:g.1220640C>T	ENSP00000324856:p.Gln220*		B2RBX7|E7EW76	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q220*	ENST00000326873.7	37	c.658	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	C	48	14.216541	0.99785	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-51.9112	18.5988	0.91240	0.0:1.0:0.0:0.0	.	.	.	.	X	220	.	ENSP00000324856:Q220X	Q	+	1	0	STK11	1171640	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.712000	0.84684	2.644000	0.89710	0.561000	0.74099	CAG	STK11	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000118046		0.711	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3		0	9	0	C	NM_000455		1220640	1			no_errors	ENST00000326873	ensembl	human	known	74_37	nonsense	33.33	6	3	SNP	1.000	T	T	1220640	C	T	1220640	4	4	184	1	0	0	0	0	0	1	0	0	15334	595	21	3	676	3	STK11	19	1220640	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	215239	1220640	57908343	391	46068											
EPOR	2057	genome.wustl.edu	37	chr19	11488935	11488935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagctggcagcagaggctcCctctgggctgggcttcgagg	7	7	16	11	1	1	1	0	0	1	1	3	2	2	1	1	5	2	6	1	5	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:11488935C>T	ENST00000222139.6	-	8	1356	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	418					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)	GCAGAGGCTCCCTCTGGGCTG	0.622											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													39	37	37					19																	11488935		2203	4300	6503	SO:0001583	missense	0			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.1252G>A	19.37:g.11488935C>T	ENSP00000222139:p.Gly418Arg	672	B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	pirsf_Erythropoietin_rcpt,pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G418R	ENST00000222139.6	37	c.1252	CCDS12260.1	19	.	.	.	.	.	.	.	.	.	.	C	4.699	0.129986	0.08981	.	.	ENSG00000187266	ENST00000222139	T	0.49720	0.77	4.69	4.69	0.59074	.	0.856352	0.10279	N	0.693802	T	0.35653	0.0939	L	0.57536	1.79	0.21822	N	0.999521	P	0.45902	0.868	B	0.31191	0.125	T	0.18524	-1.0334	10	0.16420	T	0.52	-22.5384	8.9306	0.35668	0.0:0.897:0.0:0.103	.	418	P19235	EPOR_HUMAN	R	418	ENSP00000222139:G418R	ENSP00000222139:G418R	G	-	1	0	EPOR	11349935	0.080000	0.21391	0.126000	0.21872	0.094000	0.18550	2.304000	0.43655	2.138000	0.66242	0.555000	0.69702	GGA	EPOR	-	pirsf_Erythropoietin_rcpt	ENSG00000187266		0.622	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPOR	HGNC	protein_coding	OTTHUMT00000458791.1	-	0	25	0	C			11488935	-1	tier1	-	no_errors	ENST00000222139	ensembl	human	known	74_37	missense	36.00	16	9	SNP	0.512	T	T	11488935	C	T	11488935	3	4	184	1	0	0	0	0	1	0	0	0	5205	632	22	3	278	3	EPOR	19	11488935	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	10268295	11488935	47640048	392	46069											
HOOK2	29911	genome.wustl.edu	37	chr19	12882120	12882120	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggctctgcttctcctctGacaggagcatcagctgcggg	6	9	12	14	1	4	1	1	1	3	0	5	2	4	2	2	3	4	4	2	3	0	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:12882120G>C	ENST00000397668.3	-	9	687	c.614C>G	c.(613-615)tCa>tGa	p.S205*	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Nonsense_Mutation_p.S205*	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	205	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						CTTCTCCTCTGACAGGAGCAT	0.647																																																	0													19	22	21					19																	12882120		2015	4181	6196	SO:0001587	stop_gained	0			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.614C>G	19.37:g.12882120G>C	ENSP00000380785:p.Ser205*		O60562	Nonsense_Mutation	SNP	pfam_Hook-related_fam,superfamily_UBA-like	p.S205*	ENST00000397668.3	37	c.614	CCDS42508.1	19	.	.	.	.	.	.	.	.	.	.	g	24.4	4.530230	0.85706	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	.	.	.	4.89	3.62	0.41486	.	0.777994	0.11631	N	0.544808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-3.3483	6.6765	0.23098	0.2659:0.0:0.7341:0.0	.	.	.	.	X	205	.	ENSP00000264827:S205X	S	-	2	0	HOOK2	12743120	0.006000	0.16342	0.974000	0.42286	0.359000	0.29487	1.443000	0.35057	2.277000	0.76020	0.450000	0.29827	TCA	HOOK2	-	pfam_Hook-related_fam	ENSG00000095066		0.647	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	HGNC	protein_coding	OTTHUMT00000451008.1	-	0	78	0	G	NM_013312		12882120	-1	tier1	-	no_errors	ENST00000397668	ensembl	human	known	74_37	nonsense	31.67	41	19	SNP	0.073	C	C	12882120	G	C	12882120	4	2	184	1	0	0	0	0	0	1	0	0	7310	1294	45	5	1605	5	HOOK2	19	12882120	Nonsense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	1393185	12882120	46246863	393	46070											
OR7C2	26658	genome.wustl.edu	37	chr19	15052578	15052578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	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	aacacaaagcaaaatgatcaCttttgcaggctgcctcactc	14	9	6	12	0	2	1	2	1	0	0	3	1	2	1	1	1	4	3	1	1	4	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:15052578C>G	ENST00000248072.3	+	1	278	c.278C>G	c.(277-279)aCt>aGt	p.T93S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					AAAATGATCACTTTTGCAGGC	0.458																																																	0													60	56	57					19																	15052578		2203	4300	6503	SO:0001583	missense	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.278C>G	19.37:g.15052578C>G	ENSP00000248072:p.Thr93Ser		O43881|Q6IFP9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T93S	ENST00000248072.3	37	c.278	CCDS12320.1	19	.	.	.	.	.	.	.	.	.	.	c	0.017	-1.490394	0.01018	.	.	ENSG00000127529	ENST00000248072	T	0.00011	9.37	4.19	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.366777	0.19461	N	0.113688	T	0.00039	0.0001	N	0.00538	-1.39	0.09310	N	1	B	0.23058	0.079	B	0.19946	0.027	T	0.01512	-1.1336	10	0.10111	T	0.7	.	12.036	0.53425	0.0:0.6652:0.3348:0.0	.	93	O60412	OR7C2_HUMAN	S	93	ENSP00000248072:T93S	ENSP00000248072:T93S	T	+	2	0	OR7C2	14913578	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	1.297000	0.33400	0.485000	0.27652	0.514000	0.50259	ACT	OR7C2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000127529		0.458	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	HGNC	protein_coding	OTTHUMT00000466281.1	-	0	59	0	C			15052578	1	tier1	-	no_errors	ENST00000248072	ensembl	human	known	74_37	missense	35.71	27	15	SNP	0.005	G	G	15052578	C	G	15052578	3	3	184	1	0	0	0	0	1	0	0	0	11257	565	20	5	280	5	OR7C2	19	15052578	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2170458	15052578	44076405	394	46071											
BRD4	23476	genome.wustl.edu	37	chr19	15366974	15366974	+	Missense_Mutation	SNP	T	T	C	0	1	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	ccacttcctctttccttttgTgcttttcttttttcttttcc	1	25	2	13	0	3	0	0	0	3	0	6	0	6	0	4	0	1	1	4	0	0	11			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:15366974T>C	ENST00000263377.2	-	9	1873	c.1652A>G	c.(1651-1653)cAc>cGc	p.H551R	BRD4_ENST00000371835.4_Missense_Mutation_p.H551R|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000360016.5_Missense_Mutation_p.H551R	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	551	BID region.|Lys-rich.				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)			tttccttttgtgcttttcttt	0.428			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													249	222	232					19																	15366974		2202	4300	6502	SO:0001583	missense	0			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.1652A>G	19.37:g.15366974T>C	ENSP00000263377:p.His551Arg		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.H551R	ENST00000263377.2	37	c.1652	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	T	13.87	2.366356	0.41902	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.10960	2.82;2.82;2.82	5.55	5.55	0.83447	.	0.683333	0.14264	N	0.330582	T	0.14614	0.0353	L	0.57536	1.79	0.45621	D	0.998554	B;B;B	0.26081	0.126;0.089;0.141	B;B;B	0.25759	0.052;0.015;0.063	T	0.03630	-1.1018	10	0.30854	T	0.27	-10.4692	14.6817	0.69023	0.0:0.0:0.0:1.0	.	551;551;551	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	R	551	ENSP00000263377:H551R;ENSP00000360901:H551R;ENSP00000353112:H551R	ENSP00000263377:H551R	H	-	2	0	BRD4	15227974	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.289000	0.72696	2.122000	0.65172	0.459000	0.35465	CAC	BRD4	-	NULL	ENSG00000141867		0.428	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	-	0	53	0	T	NM_058243		15366974	-1	tier1	-	no_errors	ENST00000263377	ensembl	human	known	74_37	missense	25.00	30	10	SNP	1.000	C	C	15366974	T	C	15366974	3	2	184	1	0	0	0	0	1	0	0	0	1508	1696	59	4	2499	4	BRD4	19	15366974	Missense_Mutation	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	314396	15366974	43762009	395	46072											
C19orf42	79086	genome.wustl.edu	37	chr19	16770258	16770258	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccctgcgtgtccttctttttCctacaaagaggagcagacag	9	11	9	12	1	1	2	0	0	1	2	3	3	3	3	3	1	3	1	3	1	2	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:16770258C>G	ENST00000487416.2	-	3	115	c.69G>C	c.(67-69)ctG>ctC	p.L23L	CTC-429P9.4_ENST00000600705.1_Splice_Site_p.L23L|SMIM7_ENST00000597711.1_Splice_Site_p.L23L|SMIM7_ENST00000397349.2_5'UTR|SMIM7_ENST00000358726.6_Splice_Site_p.L23L|CTC-429P9.4_ENST00000593962.1_5'UTR|TMEM38A_ENST00000187762.2_5'Flank	NM_024104.3	NP_077009.2	Q9BQ49	SMIM7_HUMAN	small integral membrane protein 7	23						integral component of membrane (GO:0016021)											CCTTCTTTTTCCTACAAAGAG	0.532																																																	0													63	67	65					19																	16770258		1934	4145	6079	SO:0001630	splice_region_variant	0			AK025602	CCDS12348.2, CCDS74307.1	19p13.11	2012-10-26	2012-10-26	2012-10-26	ENSG00000214046	ENSG00000214046			28419	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 42"	C19orf42		12477932	Standard	NM_024104		Approved	MGC2747	uc002ner.3	Q9BQ49	OTTHUMG00000149895	ENST00000487416.2:c.69-1G>C	19.37:g.16770258C>G			A8MX44	Silent	SNP	NULL	p.L23	ENST00000487416.2	37	c.69	CCDS12348.2	19																																																																																			SMIM7	-	NULL	ENSG00000214046		0.532	SMIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMIM7	HGNC	protein_coding	OTTHUMT00000313801.2		0	24	0	C	NM_024104	Silent	16770258	-1			no_errors	ENST00000487803	ensembl	human	known	74_37	silent	25.00	15	5	SNP	1.000	G	G	16770258	C	G	16770258	5	3	184	1	0	0	0	0	0	0	1	0	1932	869	30	5	170	5	C19orf42	19	16770258	Splice_Site	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1403284	16770258	42358725	396	46073											
CILP2	148113	genome.wustl.edu	37	chr19	19653312	19653312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcactgtggccaccagcGatgctcacggaaccttccgg	7	7	12	15	3	1	0	1	0	0	0	2	2	2	1	4	4	3	2	4	4	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:19653312G>A	ENST00000291495.5	+	5	806	c.721G>A	c.(721-723)Gat>Aat	p.D241N	CILP2_ENST00000588333.2_3'UTR|CILP2_ENST00000586018.1_Missense_Mutation_p.D247N	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	241						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						GGCCACCAGCGATGCTCACGG	0.662																																																	0													43	39	40					19																	19653312		2203	4300	6503	SO:0001583	missense	0			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.721G>A	19.37:g.19653312G>A	ENSP00000291495:p.Asp241Asn		Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.D241N	ENST00000291495.5	37	c.721	CCDS12405.1	19	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720261	0.30503	.	.	ENSG00000160161	ENST00000291495	T	0.49720	0.77	5.23	4.19	0.49359	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.100895	0.64402	D	0.000003	T	0.43233	0.1238	L	0.46157	1.445	0.26284	N	0.97823	B;B	0.31125	0.309;0.309	B;B	0.34138	0.176;0.176	T	0.33394	-0.9870	10	0.33940	T	0.23	-22.8188	13.8408	0.63437	0.0:0.1542:0.8458:0.0	.	241;241	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	N	241	ENSP00000291495:D241N	ENSP00000291495:D241N	D	+	1	0	CILP2	19514312	0.996000	0.38824	0.066000	0.19879	0.078000	0.17371	2.506000	0.45433	1.206000	0.43276	0.555000	0.69702	GAT	CILP2	-	superfamily_CarboxyPept-like_regulatory	ENSG00000160161		0.662	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	-	0	28	0	G	NM_153221		19653312	1	tier1	-	no_errors	ENST00000291495	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.583	A	A	19653312	G	A	19653312	3	1	184	1	0	0	0	0	1	0	0	0	3437	1058	37	1	739	1	CILP2	19	19653312	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2883054	19653312	39475671	397	46074											
C19orf2	8725	genome.wustl.edu	37	chr19	30499999	30499999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacaaatgtgaatgcgatGcatcaagtaacagactctca	17	8	7	9	1	2	2	2	1	1	1	3	3	2	2	0	0	4	2	0	0	5	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:30499999G>T	ENST00000542441.2	+	8	1071	c.774G>T	c.(772-774)atG>atT	p.M258I	URI1_ENST00000360605.4_Missense_Mutation_p.M240I|URI1_ENST00000392271.1_Missense_Mutation_p.M182I|URI1_ENST00000312051.6_Missense_Mutation_p.M218I			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	258					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)										TGAATGCGATGCATCAAGTAA	0.403																																																	0													149	122	131					19																	30499999		2203	4300	6503	SO:0001583	missense	0			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.774G>T	19.37:g.30499999G>T	ENSP00000442436:p.Met258Ile		A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin	p.M258I	ENST00000542441.2	37	c.774	CCDS12420.1	19	.	.	.	.	.	.	.	.	.	.	G	6.756	0.508385	0.12883	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T;T;T	0.07688	3.17;3.17;3.17	5.57	0.256	0.15567	.	1.186130	0.05654	N	0.585637	T	0.05456	0.0144	N	0.25647	0.755	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.44190	-0.9344	10	0.32370	T	0.25	0.1488	0.26	0.00217	0.3487:0.1394:0.2009:0.311	.	218;258;256	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	I	256;182;258;218	ENSP00000376097:M182I;ENSP00000442436:M258I;ENSP00000312530:M218I	ENSP00000312530:M218I	M	+	3	0	C19orf2	35191839	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.110000	0.10824	0.210000	0.20664	0.313000	0.20887	ATG	URI1	-	NULL	ENSG00000105176		0.403	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URI1	HGNC	protein_coding	OTTHUMT00000439756.1		0	38	0	G	NM_134447		30499999	1			no_errors	ENST00000542441	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T	T	30499999	G	T	30499999	3	4	184	1	0	0	0	0	1	0	0	0	1918	1319	46	3	804	3	C19orf2	19	30499999	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	10846687	30499999	28628984	398	46075											
SLC7A9	11136	genome.wustl.edu	37	chr19	33359402	33359402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttggctctggatcgacttCtcatcctctctccgctttct	3	17	6	15	2	5	0	1	0	5	0	10	2	7	1	2	2	0	2	2	2	0	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:33359402C>G	ENST00000023064.4	-	2	230	c.39G>C	c.(37-39)gaG>gaC	p.E13D	SLC7A9_ENST00000587772.1_Missense_Mutation_p.E13D|SLC7A9_ENST00000590341.1_Missense_Mutation_p.E13D	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	13					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)	GGATCGACTTCTCATCCTCTC	0.567																																					GBM(181;1335 2108 9644 44178 46689)												0													193	131	152					19																	33359402		2203	4300	6503	SO:0001583	missense	0			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.39G>C	19.37:g.33359402C>G	ENSP00000023064:p.Glu13Asp		B2R9A6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.E13D	ENST00000023064.4	37	c.39	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	C	2.141	-0.396872	0.04899	.	.	ENSG00000021488	ENST00000023064	D	0.90004	-2.6	5.29	1.75	0.24633	.	3.880830	0.00166	N	0.000012	D	0.83303	0.5225	L	0.38175	1.15	0.24985	N	0.991572	B	0.02656	0.0	B	0.04013	0.001	T	0.65067	-0.6258	10	0.13108	T	0.6	.	7.516	0.27602	0.0:0.5887:0.2589:0.1524	.	13	P82251	BAT1_HUMAN	D	13	ENSP00000023064:E13D	ENSP00000023064:E13D	E	-	3	2	SLC7A9	38051242	0.277000	0.24220	0.141000	0.22245	0.076000	0.17211	0.583000	0.23849	0.724000	0.32296	-0.502000	0.04539	GAG	SLC7A9	-	NULL	ENSG00000021488		0.567	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	-	0	25	0	C			33359402	-1	tier1	-	no_errors	ENST00000023064	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.796	G	G	33359402	C	G	33359402	3	3	184	1	0	0	0	0	1	0	0	0	14750	912	32	5	1472	5	SLC7A9	19	33359402	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2859403	33359402	25769581	399	46076											
ZNF829	374899	genome.wustl.edu	37	chr19	37382734	37382734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacattcataaggtttctcaCcagtatgcattctctgatgc	10	15	6	10	0	3	1	2	1	2	0	5	1	3	1	1	1	3	3	1	1	3	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:37382734C>A	ENST00000391711.3	-	6	1323	c.959G>T	c.(958-960)gGt>gTt	p.G320V	ZNF829_ENST00000520965.1_Missense_Mutation_p.G401V|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	320					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(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTTTCTCACCAGTATGCAT	0.403																																																	0													77	79	78					19																	37382734		2198	4300	6498	SO:0001583	missense	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.959G>T	19.37:g.37382734C>A	ENSP00000429266:p.Gly320Val		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G401V	ENST00000391711.3	37	c.1202	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201482	0.58234	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.01599	4.74	2.95	2.95	0.34219	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	L	0.51422	1.61	0.53005	D	0.999969	D	0.76494	0.999	D	0.67548	0.952	T	0.34354	-0.9832	9	0.72032	D	0.01	.	13.7668	0.62999	0.0:1.0:0.0:0.0	.	320	Q3KNS6	ZN829_HUMAN	V	320	ENSP00000429266:G320V	ENSP00000429266:G320V	G	-	2	0	ZNF829	42074574	0.069000	0.21087	1.000000	0.80357	0.999000	0.98932	2.678000	0.46900	1.967000	0.57214	0.650000	0.86243	GGT	ZNF829	-	pfscan_Znf_C2H2	ENSG00000185869		0.403	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	-	0	75	0	C	NM_001037232		37382734	-1	tier1	-	no_errors	ENST00000520965	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	A	A	37382734	C	A	37382734	3	1	184	1	0	0	0	0	1	0	0	0	18230	507	18	3	343	3	ZNF829	19	37382734	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	4023332	37382734	21746249	400	46077											
ZNF420	147923	genome.wustl.edu	37	chr19	37619881	37619881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagctaactcaacatcagaGaattcatatcagtgagaaat	18	9	6	8	0	4	2	4	1	0	2	4	4	4	2	0	0	3	1	0	0	5	3	rs140027212		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:37619881G>A	ENST00000337995.3	+	5	2203	c.1988G>A	c.(1987-1989)aGa>aAa	p.R663K	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_Intron|ZNF420_ENST00000304239.7_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	663					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R663I(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAACATCAGAGAATTCATATC	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											86	87	86					19																	37619881		2203	4299	6502	SO:0001583	missense	0			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1988G>A	19.37:g.37619881G>A	ENSP00000338770:p.Arg663Lys		B2RDY6|Q96ML5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R663K	ENST00000337995.3	37	c.1988	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926536	0.34002	.	.	ENSG00000197050	ENST00000337995	T	0.05513	3.43	4.46	-0.533	0.11887	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	L	0.28458	0.855	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43621	-0.9380	8	.	.	.	.	2.1726	0.03853	0.2501:0.13:0.4871:0.1327	.	663	Q8TAQ5	ZN420_HUMAN	K	663	ENSP00000338770:R663K	.	R	+	2	0	ZNF420	42311721	0.000000	0.05858	0.669000	0.29828	0.993000	0.82548	0.798000	0.27014	0.151000	0.19162	0.655000	0.94253	AGA	ZNF420	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197050		0.378	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	-	0	76	0	G	NM_144689		37619881	1	tier1	-	no_errors	ENST00000337995	ensembl	human	known	74_37	missense	23.33	46	14	SNP	1.000	A	A	37619881	G	A	37619881	3	1	184	1	0	0	0	0	1	0	0	0	17945	942	33	3	1998	3	ZNF420	19	37619881	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	237147	37619881	21509102	401	46078											
ZFP36	7538	genome.wustl.edu	37	chr19	39898975	39898975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccaggcctggccggccCttccctgtcctccagctcct	4	8	8	21	1	0	0	0	0	0	0	4	0	4	0	9	3	1	1	9	3	0	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:39898975C>A	ENST00000248673.3	+	2	675	c.617C>A	c.(616-618)cCt>cAt	p.P206H	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.P212H	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	206					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)	p.P206L(1)		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)			CTGGCCGGCCCTTCCCTGTCC	0.711																																					NSCLC(67;1164 1324 12056 21056 30097)												1	Substitution - Missense(1)	lung(1)											68	80	76					19																	39898975		2201	4299	6500	SO:0001583	missense	0			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.617C>A	19.37:g.39898975C>A	ENSP00000248673:p.Pro206His		B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.P212H	ENST00000248673.3	37	c.635		19	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541067	0.45280	.	.	ENSG00000128016	ENST00000248673	T	0.23147	1.92	4.02	1.7	0.24286	.	0.593369	0.15290	N	0.270238	T	0.14787	0.0357	L	0.43152	1.355	0.30386	N	0.781456	P	0.45283	0.855	B	0.34038	0.174	T	0.12630	-1.0540	10	0.15499	T	0.54	-1.4256	7.7001	0.28617	0.0:0.7617:0.0:0.2383	.	206	P26651	TTP_HUMAN	H	206	ENSP00000248673:P206H	ENSP00000248673:P206H	P	+	2	0	ZFP36	44590815	0.076000	0.21285	0.998000	0.56505	0.508000	0.34012	0.395000	0.20850	0.916000	0.36871	0.442000	0.29010	CCT	ZFP36	-	NULL	ENSG00000128016		0.711	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding			0	73	0	C			39898975	1			no_errors	ENST00000597629	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.802	A	A	39898975	C	A	39898975	3	1	184	1	0	0	0	0	1	0	0	0	17693	681	24	3	623	3	ZFP36	19	39898975	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2279094	39898975	19230008	402	46079											
ADCK4	79934	genome.wustl.edu	37	chr19	41206253	41206253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttaggccctggcactggtCcagggggacccctccagcca	6	6	13	16	0	0	0	0	0	0	0	2	1	2	1	6	5	1	2	6	5	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:41206253C>A	ENST00000324464.3	-	11	1298	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	ADCK4_ENST00000243583.6_Missense_Mutation_p.D292Y|ADCK4_ENST00000450541.1_Missense_Mutation_p.D292Y	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	333	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)			TGGCACTGGTCCAGGGGGACC	0.667																																																	0													38	41	40					19																	41206253		2203	4300	6503	SO:0001583	missense	0			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.997G>T	19.37:g.41206253C>A	ENSP00000315118:p.Asp333Tyr		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.D333Y	ENST00000324464.3	37	c.997	CCDS12562.1	19	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799317	0.90538	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.56611	0.45;0.45;0.45	5.75	5.75	0.90469	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79040	0.4379	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.82788	-0.0284	10	0.87932	D	0	-24.4413	18.7097	0.91652	0.0:1.0:0.0:0.0	.	333;292	Q96D53;Q96D53-2	ADCK4_HUMAN;.	Y	333;292;292	ENSP00000315118:D333Y;ENSP00000412839:D292Y;ENSP00000243583:D292Y	ENSP00000243583:D292Y	D	-	1	0	ADCK4	45898093	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.677000	0.84024	2.720000	0.93068	0.563000	0.77884	GAC	ADCK4	-	superfamily_Kinase-like_dom	ENSG00000123815		0.667	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADCK4	HGNC	protein_coding	OTTHUMT00000462731.1		0	27	0	C	NM_024876		41206253	-1			no_errors	ENST00000324464	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	A	A	41206253	C	A	41206253	3	1	184	1	0	0	0	0	1	0	0	0	290	855	30	3	657	3	ADCK4	19	41206253	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1307278	41206253	17922730	403	46080											
LYPD4	147719	genome.wustl.edu	37	chr19	42343053	42343053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttatggaaagcaacagctCtgaatcttgaggctgttgct	11	12	11	7	0	2	2	0	2	2	0	2	3	2	3	0	2	4	6	0	2	4	3	rs368266342		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:42343053C>T	ENST00000330743.3	-	3	1324	c.113G>A	c.(112-114)aGa>aAa	p.R38K	LYPD4_ENST00000343055.4_Intron|LYPD4_ENST00000601246.1_Intron	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	38						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AGCAACAGCTCTGAATCTTGA	0.498																																																	0								C	LYS/ARG	1,4405	2.1+/-5.4	0,1,2202	144	134	138		113	3.9	1	19		138	0,8600		0,0,4300	no	missense	LYPD4	NM_173506.4	26	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	38/247	42343053	1,13005	2203	4300	6503	SO:0001583	missense	0			AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.113G>A	19.37:g.42343053C>T	ENSP00000328737:p.Arg38Lys		Q8IYW0	Missense_Mutation	SNP	pfam_LY6_UPAR	p.R38K	ENST00000330743.3	37	c.113	CCDS12587.1	19	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824633	0.32237	2.27E-4	0.0	ENSG00000183103	ENST00000330743	T	0.05513	3.43	3.91	3.91	0.45181	.	0.000000	0.49305	D	0.000145	T	0.17577	0.0422	M	0.69823	2.125	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	T	0.06679	-1.0813	10	0.11485	T	0.65	-15.2044	11.6865	0.51490	0.0:1.0:0.0:0.0	.	38	Q6UWN0	LYPD4_HUMAN	K	38	ENSP00000328737:R38K	ENSP00000328737:R38K	R	-	2	0	LYPD4	47034893	1.000000	0.71417	0.998000	0.56505	0.060000	0.15804	2.957000	0.49137	2.474000	0.83562	0.551000	0.68910	AGA	LYPD4	-	NULL	ENSG00000183103		0.498	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD4	HGNC	protein_coding	OTTHUMT00000463039.1	-	0	37	0	C	NM_173506		42343053	-1	tier1	-	no_errors	ENST00000330743	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.998	T	T	42343053	C	T	42343053	3	4	184	1	0	0	0	0	1	0	0	0	9148	913	32	3	639	3	LYPD4	19	42343053	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1136800	42343053	16785930	404	46081											
GLTSCR1	29998	genome.wustl.edu	37	chr19	48176990	48176990	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagtgacccacaggccCtcaatgacttcttgcatgga	9	10	8	14	0	2	2	1	2	1	0	3	3	3	3	3	2	1	1	3	2	1	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:48176990C>G	ENST00000396720.3	+	4	249	c.55C>G	c.(55-57)Ctc>Gtc	p.L19V	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	19										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)		CCCACAGGCCCTCAATGACTT	0.602																																																	0													100	94	96					19																	48176990		1568	3582	5150	SO:0001583	missense	0			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.55C>G	19.37:g.48176990C>G	ENSP00000379946:p.Leu19Val		A8MW01	Missense_Mutation	SNP	NULL	p.L19V	ENST00000396720.3	37	c.55	CCDS46134.1	19	.	.	.	.	.	.	.	.	.	.	c	10.31	1.314795	0.23908	.	.	ENSG00000063169	ENST00000396720	T	0.62941	-0.01	3.72	2.58	0.30949	.	.	.	.	.	T	0.54029	0.1833	L	0.57536	1.79	0.33901	D	0.638532	B	0.31705	0.336	B	0.30782	0.12	T	0.67597	-0.5630	9	0.87932	D	0	.	6.8465	0.23990	0.0:0.7104:0.1829:0.1067	.	19	Q9NZM4	GSCR1_HUMAN	V	19	ENSP00000379946:L19V	ENSP00000379946:L19V	L	+	1	0	GLTSCR1	52868802	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.512000	0.45485	2.051000	0.60960	0.556000	0.70494	CTC	GLTSCR1	-	NULL	ENSG00000063169		0.602	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1	HGNC	protein_coding	OTTHUMT00000465846.1	-	0	42	0	C	NM_015711		48176990	1	tier1	-	no_errors	ENST00000396720	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	G	G	48176990	C	G	48176990	3	3	184	1	0	0	0	0	1	0	0	0	6500	681	24	5	61	5	GLTSCR1	19	48176990	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	5833937	48176990	10951993	405	46082											
LILRB4	11006	genome.wustl.edu	37	chr19	55175698	55175698	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgacctcaggaaagagCgtgaccctgctgtgtcagtc	8	10	12	11	1	2	3	2	2	0	1	3	4	2	4	2	1	2	1	2	1	1	1	rs541287083		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:55175698C>T	ENST00000391736.1	+	6	732	c.417C>T	c.(415-417)agC>agT	p.S139S	LILRB4_ENST00000270452.2_Silent_p.S139S|LILRB4_ENST00000391734.3_Silent_p.S139S|LILRB4_ENST00000391733.3_Silent_p.S139S|LILRB4_ENST00000430952.2_Silent_p.S139S	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	139	Ig-like C2-type 2.				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)		CAGGAAAGAGCGTGACCCTGC	0.572													C|||	1	0.000199681	0	0	5008	,	,		20867	0.001		0	False		,,,				2504	0																0													103	98	99					19																	55175698		2203	4300	6503	SO:0001819	synonymous_variant	0			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.417C>T	19.37:g.55175698C>T			A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	pfam_Immunoglobulin,pfscan_Ig-like_dom	p.S139	ENST00000391736.1	37	c.417	CCDS12902.1	19																																																																																			LILRB4	-	pfam_Immunoglobulin,pfscan_Ig-like_dom	ENSG00000186818		0.572	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	HGNC	protein_coding	OTTHUMT00000141127.3	-	0	126	0	C			55175698	1	tier1	-	no_errors	ENST00000270452	ensembl	human	known	74_37	silent	12.40	106	15	SNP	0.005	T	T	55175698	C	T	55175698	2	4	184	1	0	0	0	0	0	0	0	1	8822	767	27	1		1	LILRB4	19	55175698	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	6998708	55175698	3953285	406	46083											
ZNF773	374928	genome.wustl.edu	37	chr19	58018634	58018634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaccttttaagtgcaatGaatgtgggagattctttagt	14	14	9	4	0	1	2	0	1	1	1	1	3	1	2	1	1	2	1	1	1	6	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr19:58018634G>A	ENST00000282292.4	+	4	1311	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.E390K|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(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)		TAAGTGCAATGAATGTGGGAG	0.413																																																	0													104	108	107					19																	58018634		2203	4300	6503	SO:0001583	missense	0			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.1171G>A	19.37:g.58018634G>A	ENSP00000282292:p.Glu391Lys		Q96DL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E391K	ENST00000282292.4	37	c.1171	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272283	0.40194	.	.	ENSG00000152439	ENST00000282292	T	0.07327	3.2	1.03	1.03	0.20045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12220	0.0297	N	0.17082	0.46	0.22701	N	0.998831	P;D	0.69078	0.893;0.997	P;D	0.76071	0.469;0.987	T	0.23297	-1.0192	9	0.59425	D	0.04	.	6.6574	0.22994	0.0:0.3016:0.6984:0.0	.	390;391	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	K	391	ENSP00000282292:E391K	ENSP00000282292:E391K	E	+	1	0	ZNF773	62710446	0.000000	0.05858	0.976000	0.42696	0.899000	0.52679	0.162000	0.16501	0.837000	0.34925	0.305000	0.20034	GAA	ZNF773	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152439		0.413	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	-	0	105	0	G	NM_198542		58018634	1	tier1	-	no_errors	ENST00000282292	ensembl	human	known	74_37	missense	15.00	85	15	SNP	0.821	A	A	58018634	G	A	58018634	3	1	184	1	0	0	0	0	1	0	0	0	18194	1291	45	3	1185	3	ZNF773	19	58018634	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	2842936	58018634	1110349	407	46084											
TMC2	117532	genome.wustl.edu	37	chr20	2597825	2597825	+	Missense_Mutation	SNP	A	A	G	1	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	gagcagcaacgtaccccatgAacgcgtgttcaaagcctccc	11	6	9	15	3	1	1	1	1	0	0	2	2	2	1	4	0	6	4	4	0	4	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr20:2597825A>G	ENST00000358864.1	+	16	2063	c.2048A>G	c.(2047-2049)gAa>gGa	p.E683G	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	683					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						GTACCCCATGAACGCGTGTTC	0.582																																																	0													194	135	155					20																	2597825		2203	4300	6503	SO:0001583	missense	0			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.2048A>G	20.37:g.2597825A>G	ENSP00000351732:p.Glu683Gly		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.E683G	ENST00000358864.1	37	c.2048	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226610	0.79576	.	.	ENSG00000149488	ENST00000358864	T	0.65178	-0.14	5.35	4.23	0.50019	.	0.095322	0.64402	D	0.000001	T	0.74680	0.3748	M	0.73962	2.25	0.47123	D	0.999326	D	0.55605	0.972	D	0.62955	0.909	T	0.75328	-0.3356	10	0.54805	T	0.06	-12.9998	10.8068	0.46522	0.8407:0.1593:0.0:0.0	.	683	Q8TDI7	TMC2_HUMAN	G	683	ENSP00000351732:E683G	ENSP00000351732:E683G	E	+	2	0	TMC2	2545825	0.998000	0.40836	0.922000	0.36590	0.944000	0.59088	3.638000	0.54332	0.937000	0.37394	0.528000	0.53228	GAA	TMC2	-	pfam_TMC	ENSG00000149488		0.582	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	-	0	52	0	A			2597825	1	tier1	-	no_errors	ENST00000358864	ensembl	human	known	74_37	missense	47.50	21	19	SNP	1.000	G	G	2597825	A	G	2597825	3	3	184	1	0	0	0	0	1	0	0	0	16032	246	9	4	2110	4	TMC2	20	2597825	Missense_Mutation	SNP	A	TCGA-Z6-AAPN-01A-11D-A403-09		2597825	60427695	408	46085											
CRNKL1	51340	genome.wustl.edu	37	chr20	20024186	20024186	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgctcacaatgatatcttCaataccccgcctatcaccaa	12	12	3	14	1	4	1	3	1	1	0	4	1	4	1	4	0	2	1	4	0	6	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr20:20024186C>G	ENST00000377340.2	-	8	1436	c.1405G>C	c.(1405-1407)Gaa>Caa	p.E469Q	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E308Q|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E457Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	469	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				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						ATGATATCTTCAATACCCCGC	0.418																																																	0													178	161	167					20																	20024186		2203	4300	6503	SO:0001583	missense	0			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.1405G>C	20.37:g.20024186C>G	ENSP00000366557:p.Glu469Gln		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.E469Q	ENST00000377340.2	37	c.1405	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	C	32	5.176502	0.94846	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.37058	1.22;1.22;1.22	6.07	6.07	0.98685	.	0.042365	0.85682	D	0.000000	T	0.62245	0.2412	H	0.95917	3.74	0.80722	D	1	P	0.49783	0.928	P	0.44990	0.466	T	0.75906	-0.3152	10	0.87932	D	0	-13.0498	20.6439	0.99570	0.0:1.0:0.0:0.0	.	469	Q9BZJ0	CRNL1_HUMAN	Q	457;469;308	ENSP00000366544:E457Q;ENSP00000366557:E469Q;ENSP00000440733:E308Q	ENSP00000366544:E457Q	E	-	1	0	CRNKL1	19972186	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.884000	0.98904	0.655000	0.94253	GAA	CRNKL1	-	NULL	ENSG00000101343		0.418	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	-	0	43	0	C			20024186	-1	tier1	-	no_errors	ENST00000377340	ensembl	human	known	74_37	missense	45.45	36	30	SNP	1.000	G	G	20024186	C	G	20024186	3	3	184	1	0	0	0	0	1	0	0	0	3898	835	29	5	1173	5	CRNKL1	20	20024186	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	17426361	20024186	43001334	409	46086											
VSX1	30813	genome.wustl.edu	37	chr20	25059403	25059403	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactgctgattggctcactGaatgtgggaatgacacgttc	9	11	13	8	1	1	3	1	3	0	0	2	5	1	5	0	3	1	3	0	3	2	2	rs373947722		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr20:25059403G>A	ENST00000376709.4	-	3	891				VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000376707.3_Missense_Mutation_p.S230L	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1						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						TTGGCTCACTGAATGTGGGAA	0.527																																																	0													188	173	179					20																	25059403		1327	2309	3636	SO:0001627	intron_variant	0			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.627+61C>T	20.37:g.25059403G>A			B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S230L	ENST00000376709.4	37	c.689	CCDS13168.1	20	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147855	0.37923	.	.	ENSG00000100987	ENST00000376707	D	0.92199	-2.99	3.36	0.26	0.15588	.	.	.	.	.	D	0.82976	0.5154	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.69168	-0.5216	8	0.42905	T	0.14	.	0.598	0.00740	0.2336:0.1958:0.3699:0.2007	.	230	Q9NZR4-2	.	L	230	ENSP00000365897:S230L	ENSP00000365897:S230L	S	-	2	0	VSX1	25007403	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.115000	0.15540	0.088000	0.17205	0.561000	0.74099	TCA	VSX1	-	NULL	ENSG00000100987		0.527	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX1	HGNC	protein_coding	OTTHUMT00000078384.3	-	0	104	0	G			25059403	-1	tier1	-	no_errors	ENST00000376707	ensembl	human	known	74_37	missense	7.87	116	10	SNP	0.000	A	A	25059403	G	A	25059403	1	1	184	0	1	0	0	0	0	0	0	0	17280	1294	45	3		3	VSX1	20	25059403	Intron	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	5035217	25059403	37966117	410	46087											
TPX2	22974	genome.wustl.edu	37	chr20	30358170	30358170	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcttaggctttctgctcaGaaggatttggaacagaaaga	12	12	10	7	0	3	3	1	0	2	3	4	5	3	5	0	3	2	2	0	3	4	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr20:30358170G>A	ENST00000300403.6	+	6	909	c.381G>A	c.(379-381)caG>caA	p.Q127Q	TPX2_ENST00000340513.4_Silent_p.Q127Q	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	127					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTTCTGCTCAGAAGGATTTGG	0.328																																																	0													56	57	56					20																	30358170		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.381G>A	20.37:g.30358170G>A			Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Silent	SNP	pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C	p.Q127	ENST00000300403.6	37	c.381	CCDS13190.1	20																																																																																			TPX2	-	NULL	ENSG00000088325		0.328	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2	-	0	118	0	G			30358170	1	tier1	-	no_errors	ENST00000340513	ensembl	human	known	74_37	silent	17.09	131	27	SNP	1.000	A	A	30358170	G	A	30358170	2	1	184	1	0	0	0	0	0	0	0	1	16480	933	33	3		3	TPX2	20	30358170	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	5298767	30358170	32667350	411	46088											
LPIN3	64900	genome.wustl.edu	37	chr20	39987112	39987112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accggcaggtgggcctgcctGagtcacgcatcttcacagtc	7	8	12	14	2	3	1	2	1	1	0	4	1	3	1	3	3	1	2	3	3	0	1	rs146490125	byFrequency	TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr20:39987112G>C	ENST00000373257.3	+	19	2432	c.2341G>C	c.(2341-2343)Gag>Cag	p.E781Q	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	781	C-LIP.				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)				GGGCCTGCCTGAGTCACGCAT	0.602																																																	0								G	GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	66	71	69		2341	-0.8	0	20	dbSNP_134	69	5,8595	4.3+/-15.6	0,5,4295	yes	missense	LPIN3	NM_022896.1	29	0,6,6497	CC,CG,GG		0.0581,0.0227,0.0461	benign	781/852	39987112	6,13000	2203	4300	6503	SO:0001583	missense	0			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.2341G>C	20.37:g.39987112G>C	ENSP00000362354:p.Glu781Gln		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.E781Q	ENST00000373257.3	37	c.2341	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438110	0.43326	2.27E-4	5.81E-4	ENSG00000132793	ENST00000373257	T	0.76448	-1.02	5.38	-0.793	0.10922	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.581911	0.17228	N	0.182071	T	0.71888	0.3393	L	0.49640	1.575	0.09310	N	1	P;B	0.36249	0.545;0.063	B;B	0.43413	0.419;0.046	T	0.62177	-0.6909	9	.	.	.	-2.0501	8.1962	0.31398	0.2764:0.1076:0.616:0.0	.	782;781	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	Q	781	ENSP00000362354:E781Q	.	E	+	1	0	LPIN3	39420526	0.010000	0.17322	0.001000	0.08648	0.576000	0.36127	1.748000	0.38308	-0.002000	0.14469	0.650000	0.86243	GAG	LPIN3	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000132793		0.602	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0	11	0	G	NM_022896		39987112	1	tier1	rs146490125	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.001	C	C	39987112	G	C	39987112	3	2	184	1	0	0	0	0	1	0	0	0	8955	1291	45	5	2411	5	LPIN3	20	39987112	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	9628942	39987112	23038408	412	46089											
RBPJL	11317	genome.wustl.edu	37	chr20	43942696	43942696	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgatgggcactctgcccaagGagacttcccaccgcgagagg	9	6	13	13	2	1	3	0	1	1	2	2	5	2	3	3	3	1	1	3	3	1	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr20:43942696G>C	ENST00000343694.3	+	8	851	c.779G>C	c.(778-780)gGa>gCa	p.G260A	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.G260A|RBPJL_ENST00000372741.3_Missense_Mutation_p.G260A	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	260					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				TCTGCCCAAGGAGACTTCCCA	0.587																																																	0													128	126	127					20																	43942696		2203	4300	6503	SO:0001583	missense	0			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.779G>C	20.37:g.43942696G>C	ENSP00000341243:p.Gly260Ala		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.G260A	ENST00000343694.3	37	c.779	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323750	0.24080	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.29142	1.58;1.58;1.58	5.25	4.31	0.51392	Beta-trefoil (2);	0.609926	0.16855	N	0.196761	T	0.19087	0.0458	N	0.13098	0.295	0.29863	N	0.82748	B;B	0.27559	0.181;0.047	B;B	0.25884	0.064;0.013	T	0.10847	-1.0612	10	0.42905	T	0.14	-23.0816	11.5722	0.50841	0.0816:0.0:0.9184:0.0	.	260;260	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	A	260	ENSP00000361828:G260A;ENSP00000361826:G260A;ENSP00000341243:G260A	ENSP00000341243:G260A	G	+	2	0	RBPJL	43376110	1.000000	0.71417	0.998000	0.56505	0.236000	0.25371	3.648000	0.54410	1.448000	0.47680	-0.244000	0.11960	GGA	RBPJL	-	pfam_Beta-trefoil_DNA-bd_dom,superfamily_Beta-trefoil_DNA-bd_dom	ENSG00000124232		0.587	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	-	0	61	0	G	NM_014276		43942696	1	tier1	-	no_errors	ENST00000343694	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.901	C	C	43942696	G	C	43942696	3	2	184	1	0	0	0	0	1	0	0	0	13207	1174	41	5	809	5	RBPJL	20	43942696	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	3955584	43942696	19082824	413	46090											
SLC13A3	64849	genome.wustl.edu	37	chr20	45242144	45242144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatcttgagggcgattCgccggtgcaggttccactcc	6	10	13	12	3	2	1	1	1	1	0	5	3	4	2	3	4	1	2	3	4	0	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr20:45242144C>A	ENST00000279027.4	-	2	350	c.332G>T	c.(331-333)cGa>cTa	p.R111L	SLC13A3_ENST00000472148.1_Missense_Mutation_p.R64L|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R111L|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R64L|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000417157.2_Missense_Mutation_p.R64L|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R64L|SLC13A3_ENST00000413164.2_Missense_Mutation_p.R111L|SLC13A3_ENST00000339636.3_Missense_Mutation_p.R111L|SLC13A3_ENST00000396360.1_Missense_Mutation_p.R64L	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	111					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)	GAGGGCGATTCGCCGGTGCAG	0.582																																																	0													69	61	64					20																	45242144		2203	4300	6503	SO:0001583	missense	0			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.332G>T	20.37:g.45242144C>A	ENSP00000279027:p.Arg111Leu		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.R111L	ENST00000279027.4	37	c.332	CCDS13400.1	20	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808268	0.90707	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121;ENST00000417157;ENST00000339636	T;T;T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	6.17	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.85373	2.75	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.996;0.996;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.97;0.977;0.999;0.99	T	0.50642	-0.8804	10	0.87932	D	0	-13.2882	15.4435	0.75208	0.0:0.9342:0.0:0.0658	.	111;64;64;64;111	B4DIR8;Q8WWT9-3;F6WI18;C9J4A3;Q8WWT9	.;.;.;.;S13A3_HUMAN	L	64;64;111;64;111;64;64;74;111;64;111	ENSP00000290317:R64L;ENSP00000379648:R64L;ENSP00000279027:R111L;ENSP00000420177:R64L;ENSP00000415852:R111L;ENSP00000419621:R64L;ENSP00000417784:R64L;ENSP00000395095:R74L;ENSP00000361193:R111L;ENSP00000397955:R64L;ENSP00000344912:R111L	ENSP00000279027:R111L	R	-	2	0	SLC13A3	44675551	0.941000	0.31946	0.744000	0.31058	0.831000	0.47069	7.776000	0.85560	1.633000	0.50488	0.655000	0.94253	CGA	SLC13A3	-	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	ENSG00000158296		0.582	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A3	HGNC	protein_coding	OTTHUMT00000080329.2		0	16	0	C			45242144	-1			no_errors	ENST00000279027	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.702	A	A	45242144	C	A	45242144	3	1	184	1	0	0	0	0	1	0	0	0	14438	884	31	2	1524	2	SLC13A3	20	45242144	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1299448	45242144	17783376	414	46091											
CSE1L	1434	genome.wustl.edu	37	chr20	47704604	47704604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcccctacatccctactctCatcactcagcttacacagaa	12	10	2	17	0	3	1	3	0	1	1	6	1	5	1	3	0	4	1	3	0	4	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr20:47704604C>T	ENST00000262982.2	+	17	1905	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L	CSE1L_ENST00000396192.3_Silent_p.L538L|CSE1L_ENST00000542325.1_Silent_p.L377L	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	594					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)			TCCCTACTCTCATCACTCAGC	0.368																																																	0													95	92	93					20																	47704604		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1782C>T	20.37:g.47704604C>T			A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L594	ENST00000262982.2	37	c.1782	CCDS13412.1	20																																																																																			CSE1L	-	pfam_CAS_CSE1_C,superfamily_ARM-type_fold	ENSG00000124207		0.368	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	-	0	59	0	C	NM_001316		47704604	1	tier1	-	no_errors	ENST00000262982	ensembl	human	known	74_37	silent	16.00	63	12	SNP	0.988	T	T	47704604	C	T	47704604	2	4	184	1	0	0	0	0	0	0	0	1	3939	813	29	3		3	CSE1L	20	47704604	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2462460	47704604	15320916	415	46092											
PCK1	5105	genome.wustl.edu	37	chr20	56138676	56138676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacctggcggccgcatttcCcagcgcctgcgggaagacca	7	6	13	15	4	0	1	0	0	0	1	1	2	1	2	5	3	3	2	5	3	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr20:56138676C>T	ENST00000319441.4	+	6	1018	c.854C>T	c.(853-855)cCc>cTc	p.P285L	PCK1_ENST00000535860.1_Missense_Mutation_p.P153L|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	285					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)			GCCGCATTTCCCAGCGCCTGC	0.542																																																	0													75	76	76					20																	56138676		2203	4300	6503	SO:0001583	missense	0				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.854C>T	20.37:g.56138676C>T	ENSP00000319814:p.Pro285Leu		A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.P285L	ENST00000319441.4	37	c.854	CCDS13460.1	20	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489498	0.84962	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.25579	1.79;1.79	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	0.67363	0.2885	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80072	-0.1535	10	0.87932	D	0	-28.4106	18.8895	0.92392	0.0:1.0:0.0:0.0	.	285	P35558	PCKGC_HUMAN	L	285;153	ENSP00000319814:P285L;ENSP00000444342:P153L	ENSP00000319814:P285L	P	+	2	0	PCK1	55572082	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	7.380000	0.79704	2.478000	0.83669	0.561000	0.74099	CCC	PCK1	-	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP	ENSG00000124253		0.542	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK1	HGNC	protein_coding	OTTHUMT00000079851.2	-	0	40	0	C			56138676	1	tier1	-	no_errors	ENST00000319441	ensembl	human	known	74_37	missense	11.54	46	6	SNP	1.000	T	T	56138676	C	T	56138676	3	4	184	1	0	0	0	0	1	0	0	0	11620	623	22	3	872	3	PCK1	20	56138676	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	8434072	56138676	6886844	416	46093											
SLCO4A1	28231	genome.wustl.edu	37	chr20	61300307	61300307	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcccggggcccatcgccttCggctgggtgatcgacaaggc	6	7	14	14	4	0	1	0	1	0	0	4	2	1	1	3	5	0	1	3	5	1	1	rs201252224		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr20:61300307C>T	ENST00000370507.1	+	10	1998	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Silent_p.F634F			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	634					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)	CCATCGCCTTCGGCTGGGTGA	0.657											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													35	37	36					20																	61300307		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1902C>T	20.37:g.61300307C>T		1052	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F634	ENST00000370507.1	37	c.1902	CCDS13501.1	20																																																																																			SLCO4A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000101187		0.657	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2	-	0	74	0	C	NM_016354		61300307	1	tier1	rs201252224	no_errors	ENST00000217159	ensembl	human	known	74_37	silent	10.96	65	8	SNP	0.945	T	T	61300307	C	T	61300307	2	4	184	1	0	0	0	0	0	0	0	1	14774	883	31	1		1	SLCO4A1	20	61300307	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	5161631	61300307	1725213	417	46094											
NCAM2	4685	genome.wustl.edu	37	chr21	22696804	22696804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggctctccagaacccGccatctcctggttcaggtag	7	9	9	16	1	4	1	2	0	2	1	6	1	4	1	5	3	1	3	5	3	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr21:22696804G>T	ENST00000400546.1	+	6	970	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S	NCAM2_ENST00000284894.7_Missense_Mutation_p.A99S|NCAM2_ENST00000535285.1_Missense_Mutation_p.A266S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	241	Ig-like C2-type 3.				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)		TCCAGAACCCGCCATCTCCTG	0.493																																																	0													87	88	88					21																	22696804		1917	4128	6045	SO:0001583	missense	0				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.721G>T	21.37:g.22696804G>T	ENSP00000383392:p.Ala241Ser		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.A241S	ENST00000400546.1	37	c.721	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	9.297	1.052130	0.19827	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.64260	-0.09;-0.09;-0.09	4.94	-4.73	0.03259	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.080040	0.06945	N	0.813567	T	0.31765	0.0807	N	0.03238	-0.38	0.09310	N	0.999999	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.13407	0.006;0.009;0.005	T	0.13872	-1.0493	10	0.36615	T	0.2	-1.6742	4.7758	0.13178	0.2499:0.0:0.3752:0.3748	.	266;99;241	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	S	241;99;266	ENSP00000383392:A241S;ENSP00000284894:A99S;ENSP00000441887:A266S	ENSP00000284894:A99S	A	+	1	0	NCAM2	21618675	0.186000	0.23225	0.721000	0.30653	0.753000	0.42808	0.126000	0.15769	-0.670000	0.05282	-0.423000	0.05987	GCC	NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000154654		0.493	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	-	0	140	0	G	NM_004540		22696804	1	tier1	-	no_errors	ENST00000400546	ensembl	human	known	74_37	missense	8.44	141	13	SNP	0.080	T	T	22696804	G	T	22696804	3	4	184	1	0	0	0	0	1	0	0	0	10242	1087	38	2	743	2	NCAM2	21	22696804	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09		22696804	25433091	418	46095											
USP16	10600	genome.wustl.edu	37	chr21	30410683	30410683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaaacaccagtgcttagaGaactactaaaagaagtgaaa	20	6	7	8	0	0	3	0	1	0	2	0	4	0	3	1	0	4	1	1	0	8	3	rs149141484		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr21:30410683G>C	ENST00000334352.4	+	8	895	c.664G>C	c.(664-666)Gaa>Caa	p.E222Q	USP16_ENST00000399975.3_Missense_Mutation_p.E221Q|USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Missense_Mutation_p.E222Q	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						AGTGCTTAGAGAACTACTAAA	0.318																																					Melanoma(92;625 1444 27493 34101 44971)												0													86	87	86					21																	30410683		2203	4299	6502	SO:0001583	missense	0			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.664G>C	21.37:g.30410683G>C	ENSP00000334808:p.Glu222Gln			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.E222Q	ENST00000334352.4	37	c.664	CCDS13583.1	21	.	.	.	.	.	.	.	.	.	.	g	16.00	2.997921	0.54147	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352	T;T;T	0.32988	1.43;1.43;1.43	4.94	2.08	0.27032	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.213244	0.47852	N	0.000219	T	0.34658	0.0905	L	0.33189	0.99	0.80722	D	1	D;D;D	0.58970	0.957;0.98;0.984	P;P;P	0.58577	0.832;0.753;0.841	T	0.03706	-1.1011	10	0.51188	T	0.08	.	9.1666	0.37054	0.0743:0.276:0.6498:0.0	.	207;221;222	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	Q	221;222;222	ENSP00000382857:E221Q;ENSP00000382858:E222Q;ENSP00000334808:E222Q	ENSP00000334808:E222Q	E	+	1	0	USP16	29332554	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.485000	0.53208	0.351000	0.24027	-0.187000	0.12897	GAA	USP16	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000156256		0.318	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	USP16	HGNC	protein_coding	OTTHUMT00000171847.1	-	0	48	0	G			30410683	1	tier1	-	no_errors	ENST00000334352	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	C	C	30410683	G	C	30410683	3	2	184	1	0	0	0	0	1	0	0	0	17096	943	33	5	686	5	USP16	21	30410683	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	7713879	30410683	17719212	419	46096											
DNAJC28	54943	genome.wustl.edu	37	chr21	34860764	34860764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaacaattaaattaaaatCattaattcgcttgtttaatt	16	16	5	4	1	1	0	1	0	0	0	2	1	1	1	0	1	1	2	0	1	8	8			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr21:34860764C>G	ENST00000314399.3	-	2	1375	c.937G>C	c.(937-939)Gat>Cat	p.D313H	DNAJC28_ENST00000381947.3_Missense_Mutation_p.D313H|DNAJC28_ENST00000402202.1_Missense_Mutation_p.D313H	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	313										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						AAATTAAAATCATTAATTCGC	0.348																																																	0													86	84	85					21																	34860764		2203	4300	6503	SO:0001583	missense	0			AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"Heat shock proteins / DNAJ (HSP40)"	1297	protein-coding gene	gene with protein product	"Orf28"		"chromosome 21 open reading frame 55"	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.937G>C	21.37:g.34860764C>G	ENSP00000320303:p.Asp313His		D3DSF2	Missense_Mutation	SNP	pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain	p.D313H	ENST00000314399.3	37	c.937	CCDS13626.1	21	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951701	0.53186	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.09	4.15	0.48705	.	0.165679	0.51477	D	0.000083	T	0.55194	0.1905	M	0.76574	2.34	0.31737	N	0.636322	P	0.50272	0.933	P	0.50231	0.635	T	0.66200	-0.5983	9	0.62326	D	0.03	-22.0815	10.0109	0.41986	0.1397:0.7828:0.0:0.0775	.	313	Q9NX36	DJC28_HUMAN	H	313	.	ENSP00000320303:D313H	D	-	1	0	DNAJC28	33782634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.611000	0.46334	2.534000	0.85438	0.650000	0.86243	GAT	DNAJC28	-	NULL	ENSG00000177692		0.348	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC28	HGNC	protein_coding	OTTHUMT00000140454.3	-	0	87	0	C			34860764	-1	tier1	-	no_errors	ENST00000314399	ensembl	human	known	74_37	missense	22.54	55	16	SNP	1.000	G	G	34860764	C	G	34860764	3	3	184	1	0	0	0	0	1	0	0	0	4660	826	29	5	233	5	DNAJC28	21	34860764	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	4450081	34860764	13269131	420	46097											
SLC5A3	6526	genome.wustl.edu	37	chr21	35468289	35468289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttccttggcctggattCattcttgggcagaccccagc	6	12	11	12	0	2	1	1	0	1	1	3	3	3	2	4	3	1	2	4	3	0	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr21:35468289C>A	ENST00000381151.3	+	2	1304	c.792C>A	c.(790-792)ttC>ttA	p.F264L	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.F264L			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	264					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GGCCTGGATTCATTCTTGGGC	0.478																																																	0													109	103	105					21																	35468289		2203	4300	6503	SO:0001583	missense	0				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.792C>A	21.37:g.35468289C>A	ENSP00000370543:p.Phe264Leu		O43489	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.F264L	ENST00000381151.3	37	c.792	CCDS33549.1	21	.	.	.	.	.	.	.	.	.	.	C	5.603	0.295932	0.10622	.	.	ENSG00000198743	ENST00000381151	D	0.85861	-2.04	5.72	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.82038	0.4950	N	0.20304	0.555	0.42200	D	0.991762	D	0.89917	1.0	D	0.85130	0.997	T	0.77443	-0.2586	10	0.02654	T	1	.	8.9719	0.35912	0.0:0.7704:0.0:0.2296	.	264	P53794	SC5A3_HUMAN	L	264	ENSP00000370543:F264L	ENSP00000370543:F264L	F	+	3	2	SLC5A3	34390159	0.762000	0.28451	0.989000	0.46669	0.998000	0.95712	1.022000	0.30052	0.779000	0.33543	0.609000	0.83330	TTC	SLC5A3	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000198743		0.478	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	SLC5A3	HGNC	protein_coding	OTTHUMT00000141037.1	-	0	54	0	C			35468289	1	tier1	-	no_errors	ENST00000381151	ensembl	human	known	74_37	missense	20.37	43	11	SNP	1.000	A	A	35468289	C	A	35468289	3	1	184	1	0	0	0	0	1	0	0	0	14711	825	29	3	794	3	SLC5A3	21	35468289	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	607525	35468289	12661606	421	46098											
DIP2A	23181	genome.wustl.edu	37	chr21	47974553	47974553	+	Frame_Shift_Del	DEL	C	C	-																															gcgtgcctgtcaccgtgcggCccccgcaccctcagaacctc																								rs550948255		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr21:47974553delC	ENST00000417564.2	+	27	3241	c.3220delC	c.(3220-3222)cccfs	p.P1075fs	DIP2A_ENST00000427143.2_Frame_Shift_Del_p.P1011fs|DIP2A_ENST00000400274.1_Frame_Shift_Del_p.P1071fs|DIP2A_ENST00000318711.7_Frame_Shift_Del_p.P1076fs			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1075					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)		CACCGTGCGGCCCCCGCACCC	0.657																																																	0													36	44	41					21																	47974553		2167	4260	6427	SO:0001589	frameshift_variant	0			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.3220delC	21.37:g.47974553delC	ENSP00000392066:p.Pro1075fs		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Frame_Shift_Del	DEL	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.P1076fs	ENST00000417564.2	37	c.3223	CCDS46655.1	21																																																																																			DIP2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000160305		0.657	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1		0	35	0	C	NM_015151		47974553	1	tier1		no_errors	ENST00000318711	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-	-	47974553	C	-	47974553	7	5	184	1	0	1	0	1	0	0	0	0	4541	739	26	0	3408	0	DIP2A	21	47974553	Frame_Shift_Del	DEL	C	TCGA-Z6-AAPN-01A-11D-A403-09	12506264	47974553	155342	422	46099											
GAB4	128954	genome.wustl.edu	37	chr22	17488987	17488987	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagctcccgggagggtgaGggggacggcagggacatggg	8	3	21	9	2	0	1	0	1	0	0	1	4	1	4	1	7	1	2	1	7	0	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr22:17488987G>A	ENST00000400588.1	-	1	125	c.18C>T	c.(16-18)ccC>ccT	p.P6P	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	6										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)				GGGAGGGTGAGGGGGACGGCA	0.687																																																	0													12	15	14					22																	17488987		2143	4244	6387	SO:0001819	synonymous_variant	0			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.18C>T	22.37:g.17488987G>A				Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P6	ENST00000400588.1	37	c.18	CCDS42976.1	22																																																																																			GAB4	-	NULL	ENSG00000215568		0.687	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	-	0	36	0	G	XM_372882		17488987	-1	tier1	-	no_errors	ENST00000400588	ensembl	human	known	74_37	silent	40.00	18	12	SNP	0.010	A	A	17488987	G	A	17488987	2	1	184	1	0	0	0	0	0	0	0	1	6175	987	35	3		3	GAB4	22	17488987	Silent	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09		17488987	33815579	423	46100											
MN1	4330	genome.wustl.edu	37	chr22	28193043	28193043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatgctgaactgctgcctCtgtagctggatctgcgcctg	6	11	13	11	1	2	2	0	1	2	1	2	4	2	3	2	1	6	4	2	1	2	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr22:28193043C>G	ENST00000302326.4	-	1	4443	c.3489G>C	c.(3487-3489)caG>caC	p.Q1163H		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1163					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						ACTGCTGCCTCTGTAGCTGGA	0.687			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													12	13	13					22																	28193043		2057	4208	6265	SO:0001583	missense	0			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.3489G>C	22.37:g.28193043C>G	ENSP00000304956:p.Gln1163His		A9Z1V9	Missense_Mutation	SNP	NULL	p.Q1163H	ENST00000302326.4	37	c.3489	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368797	0.61624	.	.	ENSG00000169184	ENST00000302326	T	0.50813	0.73	5.04	2.95	0.34219	.	0.000000	0.64402	D	0.000001	T	0.52917	0.1764	L	0.29908	0.895	0.41720	D	0.989506	D	0.76494	0.999	D	0.85130	0.997	T	0.54879	-0.8227	10	0.62326	D	0.03	-14.483	9.9882	0.41854	0.0:0.8332:0.0:0.1668	.	1163	Q10571	MN1_HUMAN	H	1163	ENSP00000304956:Q1163H	ENSP00000304956:Q1163H	Q	-	3	2	MN1	26523043	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.846000	0.39289	1.127000	0.42034	0.456000	0.33151	CAG	MN1	-	NULL	ENSG00000169184		0.687	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	-	0	19	0	C	NM_002430		28193043	-1	tier1	-	no_errors	ENST00000302326	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	G	G	28193043	C	G	28193043	3	3	184	1	0	0	0	0	1	0	0	0	9711	912	32	5	481	5	MN1	22	28193043	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	10704056	28193043	23111523	424	46101											
SF3A1	10291	genome.wustl.edu	37	chr22	30730595	30730595	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctcttgtctacttcttcctCccgcctctctccttgagggc	2	15	6	18	1	4	1	0	1	4	0	8	1	7	1	5	1	1	0	5	1	1	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr22:30730595C>G	ENST00000215793.8	-	16	2524	c.2370G>C	c.(2368-2370)ggG>ggC	p.G790G	SF3A1_ENST00000439242.1_Silent_p.G725G	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	790	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G790G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						ACTTCTTCCTCCCGCCTCTCT	0.562																																																	1	Substitution - coding silent(1)	lung(1)											146	129	135					22																	30730595		2203	4300	6503	SO:0001819	synonymous_variant	0			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.2370G>C	22.37:g.30730595C>G			E9PAW1	Silent	SNP	pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.G790	ENST00000215793.8	37	c.2370	CCDS13875.1	22																																																																																			SF3A1	-	pfscan_Ubiquitin_supergroup	ENSG00000099995		0.562	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	HGNC	protein_coding	OTTHUMT00000320916.2	-	0	48	0	C	NM_005877		30730595	-1	tier1	-	no_errors	ENST00000215793	ensembl	human	known	74_37	silent	25.71	26	9	SNP	1.000	G	G	30730595	C	G	30730595	2	3	184	1	0	0	0	0	0	0	0	1	14191	842	30	5		5	SF3A1	22	30730595	Silent	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2537552	30730595	20573971	425	46102											
POLDIP3	84271	genome.wustl.edu	37	chr22	42992255	42992255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtccgggacatgttggtCaaggcttttgttcgaataga	9	13	13	6	2	1	1	1	0	0	1	3	3	2	2	1	3	0	3	1	3	3	5			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chr22:42992255C>G	ENST00000252115.5	-	5	854	c.750G>C	c.(748-750)ttG>ttC	p.L250F	POLDIP3_ENST00000451060.2_Missense_Mutation_p.L94F|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000348657.2_Missense_Mutation_p.L221F	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	250					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						ACATGTTGGTCAAGGCTTTTG	0.542																																					Ovarian(52;967 1128 5875 19997 42537)												0													133	123	126					22																	42992255		2203	4300	6503	SO:0001583	missense	0				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.750G>C	22.37:g.42992255C>G	ENSP00000252115:p.Leu250Phe		A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L250F	ENST00000252115.5	37	c.750	CCDS14038.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.24|19.24	3.789109|3.789109	0.70337|0.70337	.|.	.|.	ENSG00000100227|ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000451060|ENST00000452567	.|.	.|.	.|.	5.95|5.95	4.94|4.94	0.65067|0.65067	.|.	0.581756|.	0.17796|.	N|.	0.161736|.	T|.	0.64472|.	0.2601|.	M|M	0.62723|0.62723	1.935|1.935	0.42479|0.42479	D|D	0.992856|0.992856	D;D;D;D|.	0.89917|.	1.0;0.999;0.999;0.999|.	D;D;D;D|.	0.91635|.	0.999;0.998;0.978;0.998|.	T|.	0.64271|.	-0.6447|.	9|.	0.32370|.	T|.	0.25|.	-3.1829|-3.1829	11.2095|11.2095	0.48790|0.48790	0.0:0.8036:0.1282:0.0682|0.0:0.8036:0.1282:0.0682	.|.	267;246;221;250|.	B4E0L0;Q96DI9;Q9BY77-2;Q9BY77|.	.;.;.;PDIP3_HUMAN|.	F|S	221;250;94|185	.|.	ENSP00000252115:L250F|.	L|X	-|-	3|2	2|2	POLDIP3|POLDIP3	41322199|41322199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.319000|2.319000	0.43788|0.43788	1.530000|1.530000	0.49136|0.49136	0.655000|0.655000	0.94253|0.94253	TTG|TGA	POLDIP3	-	NULL	ENSG00000100227		0.542	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLDIP3	HGNC	protein_coding	OTTHUMT00000320433.1	-	0	46	0	C	NM_032311		42992255	-1	tier1	-	no_errors	ENST00000252115	ensembl	human	known	74_37	missense	43.48	26	20	SNP	1.000	G	G	42992255	C	G	42992255	3	3	184	1	0	0	0	0	1	0	0	0	12234	825	29	5	535	5	POLDIP3	22	42992255	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	12261660	42992255	8312311	426	46103											
SHROOM2	357	genome.wustl.edu	37	chrX	9914723	9914723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaacagcaatcactgcttGagaagcagagagtcctgatc	13	8	10	10	0	2	3	2	2	0	2	4	5	3	3	1	0	4	3	1	0	3	1			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chrX:9914723G>C	ENST00000380913.3	+	10	4687	c.4597G>C	c.(4597-4599)Gag>Cag	p.E1533Q	SHROOM2_ENST00000418909.2_Missense_Mutation_p.E368Q	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1533	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ATCACTGCTTGAGAAGCAGAG	0.552																																																	0													33	30	31					X																	9914723		2203	4300	6503	SO:0001583	missense	0			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.4597G>C	X.37:g.9914723G>C	ENSP00000370299:p.Glu1533Gln		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1533Q	ENST00000380913.3	37	c.4597	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649829	0.67358	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.36340	1.26;1.26;1.26	4.58	4.58	0.56647	Apx/shroom, ASD2 (2);	0.062767	0.64402	D	0.000007	T	0.55657	0.1934	L	0.54965	1.715	0.48632	D	0.999687	B;D	0.89917	0.395;1.0	B;D	0.75484	0.209;0.986	T	0.57100	-0.7869	10	0.48119	T	0.1	-40.9158	17.0822	0.86602	0.0:0.0:1.0:0.0	.	367;1533	Q68DU3;Q13796	.;SHRM2_HUMAN	Q	1533;368;368;368	ENSP00000370299:E1533Q;ENSP00000415229:E368Q;ENSP00000406724:E368Q	ENSP00000370299:E1533Q	E	+	1	0	SHROOM2	9874723	1.000000	0.71417	0.919000	0.36401	0.840000	0.47671	6.800000	0.75165	2.042000	0.60477	0.594000	0.82650	GAG	SHROOM2	-	pfam_ASD2	ENSG00000146950		0.552	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	-	0	11	0	G	NM_001649		9914723	1	tier1	-	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	80.00	4	16	SNP	0.996	C	C	9914723	G	C	9914723	3	2	184	1	0	0	0	0	1	0	0	0	14339	1291	45	5	4635	5	SHROOM2	23	9914723	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09		9914723	145355837	427	46104											
NHS	4810	genome.wustl.edu	37	chrX	17745851	17745851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttagactcttctgcagttGagatgggaccagataaacta	12	13	9	7	0	2	3	0	1	2	3	2	5	2	4	1	1	2	2	1	1	4	6			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chrX:17745851G>C	ENST00000380060.3	+	6	3900	c.3562G>C	c.(3562-3564)Gag>Cag	p.E1188Q	NHS_ENST00000398097.3_Missense_Mutation_p.E1032Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1209					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)					TTCTGCAGTTGAGATGGGACC	0.403																																																	0													96	93	94					X																	17745851		2203	4300	6503	SO:0001583	missense	0				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.3562G>C	X.37:g.17745851G>C	ENSP00000369400:p.Glu1188Gln		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.E1188Q	ENST00000380060.3	37	c.3562	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	G	5.192	0.220898	0.09863	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.50277	0.77;0.75	5.79	5.79	0.91817	.	0.161489	0.56097	D	0.000033	T	0.44993	0.1320	L	0.54323	1.7	0.22719	N	0.998818	B;B;B;B	0.23806	0.091;0.091;0.091;0.084	B;B;B;B	0.26517	0.07;0.039;0.039;0.066	T	0.30822	-0.9965	10	0.21540	T	0.41	-17.257	15.2472	0.73513	0.0:0.1367:0.8633:0.0	.	1209;1030;1032;1188	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	Q	1188;1032;1030	ENSP00000369400:E1188Q;ENSP00000381170:E1032Q	ENSP00000369397:E1030Q	E	+	1	0	NHS	17655772	1.000000	0.71417	0.340000	0.25575	0.044000	0.14063	4.907000	0.63300	2.444000	0.82710	0.544000	0.68410	GAG	NHS	-	NULL	ENSG00000188158		0.403	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	-	0	14	0	G	NM_198270		17745851	1	tier1	-	no_errors	ENST00000380060	ensembl	human	known	74_37	missense	59.09	9	13	SNP	0.312	C	C	17745851	G	C	17745851	3	2	184	1	0	0	0	0	1	0	0	0	10450	1291	45	5	3689	5	NHS	23	17745851	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	7831128	17745851	137524709	428	46105											
MAOB	4129	genome.wustl.edu	37	chrX	43661490	43661490	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttctgcaaggggagccttCcatggggcatcactcggaat	8	10	12	11	1	3	0	1	0	2	0	5	2	4	2	2	5	2	2	2	5	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chrX:43661490C>T	ENST00000378069.4	-	5	552	c.405G>A	c.(403-405)tgG>tgA	p.W135*	MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000538942.1_Nonsense_Mutation_p.W119*|MAOB_ENST00000536181.1_Nonsense_Mutation_p.W119*	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	135					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)	GGGGAGCCTTCCATGGGGCAT	0.418																																																	0													104	77	86					X																	43661490		2203	4300	6503	SO:0001587	stop_gained	0				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.405G>A	X.37:g.43661490C>T	ENSP00000367309:p.Trp135*		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Nonsense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.W135*	ENST00000378069.4	37	c.405	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.474656	0.97598	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4241	18.6305	0.91358	0.0:1.0:0.0:0.0	.	.	.	.	X	135;119;119	.	ENSP00000367309:W135X	W	-	3	0	MAOB	43546434	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.136000	0.77285	2.430000	0.82344	0.544000	0.68410	TGG	MAOB	-	pfam_Amino_oxidase	ENSG00000069535		0.418	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1	-	0	12	0	C	NM_000898		43661490	-1	tier1	-	no_errors	ENST00000378069	ensembl	human	known	74_37	nonsense	42.11	11	8	SNP	1.000	T	T	43661490	C	T	43661490	4	4	184	1	0	0	0	0	0	1	0	0	9264	856	30	3	1201	3	MAOB	23	43661490	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	25915639	43661490	111609070	429	46106											
AR	367	genome.wustl.edu	37	chrX	66766356	66766356	+	Silent	SNP	T	T	C	0	1	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	tgtggtggtggtgggggtggTggcggcggcggcggcggcgg	0	7	28	6	6	0	0	0	0	0	0	0	0	0	0	0	13	0	0	0	13	0	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chrX:66766356T>C	ENST00000374690.3	+	1	1892	c.1368T>C	c.(1366-1368)ggT>ggC	p.G456G	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.G456G|AR_ENST00000504326.1_Silent_p.G456G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	454	Modulating.|Poly-Gly.				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)	gtgggggtggtggcggcggcg	0.741									Androgen Insensitivity Syndrome																																								0													1	2	2					X																	66766356		861	1905	2766	SO:0001819	synonymous_variant	0	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.1368T>C	X.37:g.66766356T>C			A2RUN2|B1AKD7|Q9UD95	Silent	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.G456	ENST00000374690.3	37	c.1368	CCDS14387.1	X																																																																																			AR	-	NULL	ENSG00000169083		0.741	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1		0	12	0	T	NM_000044		66766356	1			no_errors	ENST00000374690	ensembl	human	known	74_37	silent	40.00	3	2	SNP	0.027	C	C	66766356	T	C	66766356	2	2	184	1	0	0	0	0	0	0	0	1	836	1683	59	4		4	AR	23	66766356	Silent	SNP	T	TCGA-Z6-AAPN-01A-11D-A403-09	23104866	66766356	88504204	430	46107											
CYLC1	1538	genome.wustl.edu	37	chrX	83128291	83128291	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaaattctaagacagtctCaaaaaattgttcacaaaaag	20	9	4	8	0	3	1	2	0	2	1	4	1	3	1	1	0	0	1	1	0	8	4			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chrX:83128291C>G	ENST00000329312.4	+	4	612	c.575C>G	c.(574-576)tCa>tGa	p.S192*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	192					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAGACAGTCTCAAAAAATTGT	0.308																																																	0													26	25	26					X																	83128291		2176	4261	6437	SO:0001587	stop_gained	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.575C>G	X.37:g.83128291C>G	ENSP00000331556:p.Ser192*		A0AVQ8|Q5JQQ9	Nonsense_Mutation	SNP	NULL	p.S192*	ENST00000329312.4	37	c.575	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	c	14.87	2.664625	0.47572	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	.	.	.	4.08	-0.246	0.13022	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	0.1191	6.787	0.23679	0.0:0.3849:0.0:0.6151	.	.	.	.	X	192	.	ENSP00000331556:S192X	S	+	2	0	CYLC1	83014947	0.008000	0.16893	0.000000	0.03702	0.024000	0.10985	0.086000	0.14935	-0.193000	0.10415	0.513000	0.50165	TCA	CYLC1	-	NULL	ENSG00000183035		0.308	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	-	0	34	0	C	NM_021118		83128291	1	tier1	-	no_errors	ENST00000329312	ensembl	human	known	74_37	nonsense	39.06	38	25	SNP	0.000	G	G	83128291	C	G	83128291	4	3	184	1	0	0	0	0	0	1	0	0	4150	838	29	5	589	5	CYLC1	23	83128291	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	16361935	83128291	72142269	431	46108											
CYLC1	1538	genome.wustl.edu	37	chrX	83129461	83129461	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagagaggattcagaatgtCatccaaaaagactacattca	19	8	7	7	0	3	3	3	0	0	3	4	5	4	4	1	1	1	0	1	1	5	3			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chrX:83129461C>G	ENST00000329312.4	+	4	1782	c.1745C>G	c.(1744-1746)tCa>tGa	p.S582*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	582					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCAGAATGTCATCCAAAAAG	0.403																																																	0													62	55	57					X																	83129461		2201	4299	6500	SO:0001587	stop_gained	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1745C>G	X.37:g.83129461C>G	ENSP00000331556:p.Ser582*		A0AVQ8|Q5JQQ9	Nonsense_Mutation	SNP	NULL	p.S582*	ENST00000329312.4	37	c.1745	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	c	20.4	3.987247	0.74589	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	.	.	.	3.75	0.377	0.16198	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	2.648	5.541	0.17038	0.0:0.4811:0.0:0.5189	.	.	.	.	X	582	.	ENSP00000331556:S582X	S	+	2	0	CYLC1	83016117	0.008000	0.16893	0.001000	0.08648	0.137000	0.21094	0.463000	0.21972	-0.041000	0.13558	-0.176000	0.13171	TCA	CYLC1	-	NULL	ENSG00000183035		0.403	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	-	0	18	0	C	NM_021118		83129461	1	tier1	-	no_errors	ENST00000329312	ensembl	human	known	74_37	nonsense	35.00	26	14	SNP	0.001	G	G	83129461	C	G	83129461	4	3	184	1	0	0	0	0	0	1	0	0	4150	838	29	5	1759	5	CYLC1	23	83129461	Nonsense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	1170	83129461	72141099	432	46109											
KLHL4	56062	genome.wustl.edu	37	chrX	86880713	86880713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcttttgcctgagagaagatCcatgatgcaaagccctcgga	11	10	10	10	1	1	4	0	2	1	2	3	6	2	5	3	1	3	1	3	1	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chrX:86880713C>G	ENST00000373119.4	+	6	1386	c.1241C>G	c.(1240-1242)tCc>tGc	p.S414C	KLHL4_ENST00000373114.4_Missense_Mutation_p.S414C	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	414						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GAGAGAAGATCCATGATGCAA	0.438																																																	0													93	81	85					X																	86880713		2203	4300	6503	SO:0001583	missense	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1241C>G	X.37:g.86880713C>G	ENSP00000362211:p.Ser414Cys		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.S414C	ENST00000373119.4	37	c.1241	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403099	0.83230	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.75154	-0.91;-0.88	4.89	4.89	0.63831	Galactose oxidase, beta-propeller (1);	0.594107	0.18284	N	0.145928	T	0.82167	0.4978	M	0.73217	2.22	0.53688	D	0.999979	P;D	0.52996	0.63;0.957	B;P	0.54346	0.438;0.749	D	0.84445	0.0585	10	0.66056	D	0.02	.	16.3502	0.83202	0.0:1.0:0.0:0.0	.	414;414	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	C	414	ENSP00000362211:S414C;ENSP00000362206:S414C	ENSP00000362206:S414C	S	+	2	0	KLHL4	86767369	0.992000	0.36948	0.808000	0.32385	0.972000	0.66771	4.410000	0.59774	2.146000	0.66826	0.513000	0.50165	TCC	KLHL4	-	NULL	ENSG00000102271		0.438	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	-	0	25	0	C			86880713	1	tier1	-	no_errors	ENST00000373114	ensembl	human	known	74_37	missense	46.67	24	21	SNP	0.988	G	G	86880713	C	G	86880713	3	3	184	1	0	0	0	0	1	0	0	0	8418	855	30	5	1263	5	KLHL4	23	86880713	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	3751252	86880713	68389847	433	46110											
ACSL4	2182	genome.wustl.edu	37	chrX	108911423	108911423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcatgaatcggtgtgtctGaggagatagcggggcccctc	8	10	14	9	2	2	3	1	2	1	1	4	4	2	3	2	4	1	0	2	4	2	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chrX:108911423G>C	ENST00000469796.2	-	11	1741	c.1345C>G	c.(1345-1347)Cag>Gag	p.Q449E	ACSL4_ENST00000340800.2_Missense_Mutation_p.Q449E|ACSL4_ENST00000348502.6_Missense_Mutation_p.Q408E			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	449					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CGGTGTGTCTGAGGAGATAGC	0.498																																					Pancreas(188;358 2127 38547 41466 45492)												0													136	115	122					X																	108911423		2203	4300	6503	SO:0001583	missense	0			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1345C>G	X.37:g.108911423G>C	ENSP00000419171:p.Gln449Glu		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q449E	ENST00000469796.2	37	c.1345	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	G	11.56	1.676220	0.29783	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.08008	3.14;3.14;3.14	5.65	4.78	0.61160	AMP-dependent synthetase/ligase (1);	0.171941	0.52532	D	0.000079	T	0.03739	0.0106	N	0.02286	-0.61	0.37662	D	0.922822	B	0.09022	0.002	B	0.17098	0.017	T	0.34079	-0.9843	10	0.08837	T	0.75	-10.1619	15.1018	0.72284	0.0:0.0:0.8574:0.1426	.	449	O60488	ACSL4_HUMAN	E	408;449;449	ENSP00000262835:Q408E;ENSP00000419171:Q449E;ENSP00000339787:Q449E	ENSP00000339787:Q449E	Q	-	1	0	ACSL4	108798079	1.000000	0.71417	0.790000	0.31976	0.959000	0.62525	7.018000	0.76406	1.130000	0.42092	0.600000	0.82982	CAG	ACSL4	-	pfam_AMP-dep_Synth/Lig	ENSG00000068366		0.498	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	-	0	26	0	G	NM_004458		108911423	-1	tier1	-	no_errors	ENST00000340800	ensembl	human	known	74_37	missense	46.51	23	20	SNP	0.988	C	C	108911423	G	C	108911423	3	2	184	1	0	0	0	0	1	0	0	0	179	1299	45	5	814	5	ACSL4	23	108911423	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	22030710	108911423	46359137	434	46111											
GRIA3	2892	genome.wustl.edu	37	chrX	122613989	122613989	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaacaaatggtggtaCgataagggggaatgtggagc	15	7	15	4	1	0	1	0	1	0	0	0	4	0	3	0	5	3	1	0	5	6	2			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chrX:122613989C>T	ENST00000371251.1	+	15	2491				GRIA3_ENST00000371256.5_Silent_p.Y800Y|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000264357.5_Intron			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AATGGTGGTACGATAAGGGGG	0.418																																																	0													130	105	113					X																	122613989		2203	4300	6503	SO:0001627	intron_variant	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2440-2661C>T	X.37:g.122613989C>T			D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Y800	ENST00000371251.1	37	c.2400	CCDS14604.1	X																																																																																			GRIA3	-	pfam_Iontro_glu_rcpt,smart_Iontro_glu_rcpt	ENSG00000125675		0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	-	0	72	0	C	NM_000828		122613989	1	tier1	-	no_errors	ENST00000371256	ensembl	human	known	74_37	silent	53.25	36	41	SNP	1.000	T	T	122613989	C	T	122613989	1	4	184	0	1	0	0	0	0	0	0	0	6796	547	19	1		1	GRIA3	23	122613989	Intron	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	13702566	122613989	32656571	435	46112											
FATE1	89885	genome.wustl.edu	37	chrX	150884668	150884668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgaatcatggacgccaagGggaaaaccaagagcacctgg	15	4	12	10	1	1	2	1	1	0	1	1	4	1	4	3	4	2	1	3	4	5	0			TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chrX:150884668G>C	ENST00000370350.3	+	1	162	c.77G>C	c.(76-78)gGg>gCg	p.G26A		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	26						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGACGCCAAGGGGAAAACCAA	0.517																																																	0													85	64	71					X																	150884668		2017	3753	5770	SO:0001583	missense	0			AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.77G>C	X.37:g.150884668G>C	ENSP00000359375:p.Gly26Ala			Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.G26A	ENST00000370350.3	37	c.77	CCDS14700.1	X	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907506	0.33721	.	.	ENSG00000147378	ENST00000370350;ENST00000417321	T;T	0.47528	0.92;0.84	4.18	-0.95	0.10372	.	1.579880	0.03649	N	0.240732	T	0.29556	0.0737	N	0.24115	0.695	0.09310	N	1	P	0.43826	0.818	B	0.39465	0.3	T	0.09907	-1.0653	10	0.23891	T	0.37	.	2.6387	0.04965	0.3381:0.0:0.3051:0.3568	.	26	Q969F0	FATE1_HUMAN	A	26;18	ENSP00000359375:G26A;ENSP00000400493:G18A	ENSP00000359375:G26A	G	+	2	0	FATE1	150635324	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.777000	0.01780	-0.361000	0.08125	0.600000	0.82982	GGG	FATE1	-	NULL	ENSG00000147378		0.517	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FATE1	HGNC	protein_coding	OTTHUMT00000060885.1	-	0	32	0	G	NM_033085		150884668	1	tier1	-	no_errors	ENST00000370350	ensembl	human	known	74_37	missense	50.00	13	13	SNP	0.000	C	C	150884668	G	C	150884668	3	2	184	1	0	0	0	0	1	0	0	0	5715	1232	43	5	79	5	FATE1	23	150884668	Missense_Mutation	SNP	G	TCGA-Z6-AAPN-01A-11D-A403-09	28270679	150884668	4385892	436	46113											
MECP2	4204	genome.wustl.edu	37	chrX	153295862	153295862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtccggctgtccacaggctCctctctgtttggccttggca	3	12	11	15	2	1	0	0	0	1	0	5	0	4	0	4	4	0	4	4	4	0	2	rs267608634		TCGA-Z6-AAPN-01A-11D-A403-09	TCGA-Z6-AAPN-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	21fd90ec-68fe-486d-a400-8ac0d8a448ef	b3988eaa-b02d-478b-8737-4c0850c13ad8	g.chrX:153295862C>G	ENST00000303391.6	-	4	1666	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.E485Q	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	473					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)					TCCACAGGCTCCTCTCTGTTT	0.557																																																	0													213	189	197					X																	153295862		2203	4300	6503	SO:0001583	missense	0			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.1417G>C	X.37:g.153295862C>G	ENSP00000301948:p.Glu473Gln		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.E473Q	ENST00000303391.6	37	c.1417	CCDS14741.1	X	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256553	0.59321	.	.	ENSG00000169057	ENST00000303391;ENST00000453960	D;D	0.94280	-3.39;-3.39	5.8	5.8	0.92144	.	0.171928	0.53938	D	0.000053	D	0.91676	0.7369	N	0.24115	0.695	0.80722	D	1	D;P	0.54397	0.966;0.89	P;B	0.50570	0.644;0.324	D	0.92962	0.6390	10	0.72032	D	0.01	-25.2915	17.6415	0.88138	0.0:1.0:0.0:0.0	.	485;473	P51608-2;P51608	.;MECP2_HUMAN	Q	473;485	ENSP00000301948:E473Q;ENSP00000395535:E485Q	ENSP00000301948:E473Q	E	-	1	0	MECP2	152949056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.090000	0.71397	2.438000	0.82558	0.600000	0.82982	GAG	MECP2	-	pirsf_Me_CpG-bd_MeCP2	ENSG00000169057		0.557	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1	-	0	51	0	C	NM_004992		153295862	-1	tier1	-	no_errors	ENST00000303391	ensembl	human	known	74_37	missense	21.43	33	9	SNP	1.000	G	G	153295862	C	G	153295862	3	3	184	1	0	0	0	0	1	0	0	0	9461	864	30	5	47	5	MECP2	23	153295862	Missense_Mutation	SNP	C	TCGA-Z6-AAPN-01A-11D-A403-09	2411194	153295862	1974698	437	46114											
UBE4B	10277	genome.wustl.edu	37	chr1	10211432	10211432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtactcaggatattgtgatGttccttgttgtgatgttgtg	6	19	12	4	0	1	2	1	2	0	0	2	3	2	3	1	1	1	4	1	1	2	7			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:10211432G>T	ENST00000253251.8	+	20	3191	c.2352G>T	c.(2350-2352)atG>atT	p.M784I	UBE4B_ENST00000377157.3_Missense_Mutation_p.M668I|UBE4B_ENST00000343090.6_Missense_Mutation_p.M913I					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)		ATATTGTGATGTTCCTTGTTG	0.468																																																	0													158	150	152					1																	10211432		2203	4300	6503	SO:0001583	missense	0			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.2352G>T	1.37:g.10211432G>T	ENSP00000253251:p.Met784Ile			Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.M913I	ENST00000253251.8	37	c.2739	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748270	0.49257	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.41758	0.99;0.99;0.99	5.33	5.33	0.75918	Ubiquitin conjugation factor E4, core (1);	0.089929	0.85682	D	0.000000	T	0.27594	0.0678	N	0.16266	0.395	0.38673	D	0.952355	B;B;B	0.28178	0.002;0.202;0.002	B;B;B	0.28465	0.016;0.09;0.009	T	0.17198	-1.0377	10	0.48119	T	0.1	-15.9153	10.5484	0.45072	0.0:0.1435:0.7079:0.1486	.	784;913;784	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	I	784;668;913	ENSP00000253251:M784I;ENSP00000366362:M668I;ENSP00000343001:M913I	ENSP00000253251:M784I	M	+	3	0	UBE4B	10134019	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.430000	0.52807	2.497000	0.84241	0.460000	0.39030	ATG	UBE4B	-	pfam_Ub_conjug_fac_E4_core	ENSG00000130939		0.468	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	-	0	26	0	G	NM_006048		10211432	1	tier1	-	no_errors	ENST00000343090	ensembl	human	known	74_37	missense	42.31	15	11	SNP	1.000	T	T	10211432	G	T	10211432	3	4	185	1	0	0	0	0	1	0	0	0	16932	1377	48	3	2821	3	UBE4B	1	10211432	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09		10211432	239039189	1	46115											
PTCHD2	57540	genome.wustl.edu	37	chr1	11579485	11579485	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgccgctcccgagcaggttGgaggcagccctgcccagggc	5	6	15	15	2	0	0	0	0	0	0	1	2	1	1	4	4	4	4	4	4	0	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:11579485G>T	ENST00000294484.6	+	8	2101	c.1963G>T	c.(1963-1965)Gga>Tga	p.G655*	PTCHD2_ENST00000389575.3_Nonsense_Mutation_p.G655*	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	655					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)		CGAGCAGGTTGGAGGCAGCCC	0.642																																																	0													137	150	146					1																	11579485		2014	4181	6195	SO:0001587	stop_gained	0			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.1963G>T	1.37:g.11579485G>T	ENSP00000294484:p.Gly655*		Q5VTU9|Q9UJD6	Nonsense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.G655*	ENST00000294484.6	37	c.1963	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	g	32	5.110448	0.94292	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	.	.	.	5.52	4.55	0.56014	.	0.426067	0.23618	N	0.046273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-25.7645	13.3131	0.60390	0.0:0.158:0.842:0.0	.	.	.	.	X	655	.	ENSP00000294484:G655X	G	+	1	0	PTCHD2	11502072	0.519000	0.26242	0.050000	0.19076	0.010000	0.07245	1.554000	0.36266	2.602000	0.87976	0.651000	0.88453	GGA	PTCHD2	-	pfam_Patched	ENSG00000204624		0.642	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2		0	27	0	G	XM_052561		11579485	1			no_errors	ENST00000294484	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.035	T	T	11579485	G	T	11579485	4	4	185	1	0	0	0	0	0	1	0	0	12775	1349	47	3	1989	3	PTCHD2	1	11579485	Nonsense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	1368053	11579485	237671136	2	46116											
MFN2	9927	genome.wustl.edu	37	chr1	12064971	12064971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactccctgcagaccatgcaGcaggacatgataggttagtg	12	8	11	10	0	0	2	0	1	0	1	1	3	1	3	2	2	4	4	2	2	3	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:12064971G>T	ENST00000235329.5	+	14	1804	c.1482G>T	c.(1480-1482)caG>caT	p.Q494H	MFN2_ENST00000444836.1_Missense_Mutation_p.Q494H	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	494					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)		AGACCATGCAGCAGGACATGA	0.577																																																	0													43	37	39					1																	12064971		2203	4300	6503	SO:0001583	missense	0			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.1482G>T	1.37:g.12064971G>T	ENSP00000235329:p.Gln494His		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.Q494H	ENST00000235329.5	37	c.1482	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770400	0.69992	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.88354	-2.37;-2.37	5.79	2.96	0.34315	.	0.000000	0.85682	D	0.000000	D	0.93609	0.7959	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.92534	0.6036	10	0.59425	D	0.04	-13.0804	10.9946	0.47569	0.2029:0.0:0.7971:0.0	.	494	O95140	MFN2_HUMAN	H	494;494;192	ENSP00000416338:Q494H;ENSP00000235329:Q494H	ENSP00000235329:Q494H	Q	+	3	2	MFN2	11987558	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.078000	0.30754	0.379000	0.24794	-0.355000	0.07637	CAG	MFN2	-	superfamily_P-loop_NTPase	ENSG00000116688		0.577	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	-	0	30	0	G	NM_014874		12064971	1	tier1	-	no_errors	ENST00000235329	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	12064971	G	T	12064971	3	4	185	1	0	0	0	0	1	0	0	0	9562	962	34	3	1528	3	MFN2	1	12064971	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	485486	12064971	237185650	3	46117											
PRAMEF4	400735	genome.wustl.edu	37	chr1	12943147	12943147	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtggacatggccaaagcTtggtcccttagcaggctccg	8	8	14	11	1	0	0	0	0	0	0	2	1	2	1	3	5	2	3	3	5	2	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:12943147T>C	ENST00000235349.5	-	2	139	c.69A>G	c.(67-69)caA>caG	p.Q23Q		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	23					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)		TGGCCAAAGCTTGGTCCCTTA	0.572																																																	0													121	123	123					1																	12943147		2185	4281	6466	SO:0001819	synonymous_variant	0				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.69A>G	1.37:g.12943147T>C			Q5LJB5	Silent	SNP	NULL	p.Q23	ENST00000235349.5	37	c.69	CCDS30592.1	1																																																																																			PRAMEF4	-	NULL	ENSG00000243073		0.572	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	-	0	208	0	T	NM_001009611		12943147	-1	tier1	-	no_errors	ENST00000235349	ensembl	human	known	74_37	silent	17.17	193	40	SNP	0.000	C	C	12943147	T	C	12943147	2	2	185	1	0	0	0	0	0	0	0	1	12479	1606	56	4		4	PRAMEF4	1	12943147	Silent	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	878176	12943147	236307474	4	46118											
FBXO42	54455	genome.wustl.edu	37	chr1	16583183	16583184	+	Missense_Mutation	DNP	AG	AG	GA																															ataagggcttggccgcgtccAgccaccaaacagcactagca																										TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A|G	A|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:16583183_16583184AG>GA	ENST00000375592.3	-	5	789_790	c.573_574CT>TC	c.(571-576)ggCTgg>ggTCgg	p.W192R		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	192										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGCCGCGTCCAGCCACCAAACA	0.48																																																	0																																										SO:0001583	missense	0			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.573_574delinsGA	1.37:g.16583183_16583184delinsGA	ENSP00000364742:p.Trp192Arg		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation|Silent	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.W192R|p.G191	ENST00000375592.3	37	c.574|c.573	CCDS30613.1	1																																																																																			FBXO42	-	NULL	ENSG00000037637		0.48	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	-	0	54|53	0	A|G			16583183|16583184	-1	tier1	-	no_errors	ENST00000375592	ensembl	human	known	74_37	missense|silent	12.82|14.10	68|67	10|11	SNP	1.000|0.999	G|A	GA	16583184	AG	GA	16583183	3	3	185	1	0	0	0	0	1	0	0	0	5773	188	7	4	1603	4	FBXO42	1	16583183	Missense_Mutation	DNP	AG	TCGA-ZR-A9CJ-01B-11D-A387-09	3640036	16583183	232667438	5	46119											
SLC44A5	204962	genome.wustl.edu	37	chr1	75680342	75680342	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttttgctgacctgcagaAgtttctgccatatattgcaa	10	15	7	9	0	2	2	0	1	2	1	2	2	2	2	2	0	4	4	2	0	4	6			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:75680342A>C	ENST00000370855.5	-	20	1863	c.1750T>G	c.(1750-1752)Ttc>Gtc	p.F584V	SLC44A5_ENST00000535611.1_Missense_Mutation_p.F454V|SLC44A5_ENST00000370859.3_Missense_Mutation_p.F584V	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	584					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						GACCTGCAGAAGTTTCTGCCA	0.383																																																	0													110	104	106					1																	75680342		2203	4300	6503	SO:0001583	missense	0			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1750T>G	1.37:g.75680342A>C	ENSP00000359892:p.Phe584Val		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.F584V	ENST00000370855.5	37	c.1750	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.808319	0.90707	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.49432	0.78;0.78;0.78	5.28	5.28	0.74379	.	0.281951	0.43110	D	0.000603	T	0.73001	0.3531	H	0.94771	3.58	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;0.998;0.999	T	0.82137	-0.0606	10	0.87932	D	0	-18.6659	15.494	0.75634	1.0:0.0:0.0:0.0	.	578;623;584;584;623	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	V	584;623;584;454;577	ENSP00000359896:F584V;ENSP00000359892:F584V;ENSP00000443090:F454V	ENSP00000359892:F584V	F	-	1	0	SLC44A5	75452930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.317000	0.96327	2.123000	0.65237	0.533000	0.62120	TTC	SLC44A5	-	pfam_Choline_transptr-like	ENSG00000137968		0.383	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	-	0	29	0	A	NM_152697		75680342	-1	tier1	-	no_errors	ENST00000370855	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	C	C	75680342	A	C	75680342	3	2	185	1	0	0	0	0	1	0	0	0	14684	72	3	4	540	4	SLC44A5	1	75680342	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	59097159	75680342	173570279	6	46120											
COL24A1	255631	genome.wustl.edu	37	chr1	86430711	86430712	+	Missense_Mutation	DNP	GG	GG	TC																															cctttaagccttctggtcctGgttcacctgcataccccttt																										TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:86430711_86430712GG>TC	ENST00000370571.2	-	23	2863_2864	c.2497_2498CC>GA	c.(2497-2499)CCa>GAa	p.P833E	COL24A1_ENST00000436319.1_Missense_Mutation_p.P833E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	833	Collagen-like 5.			GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCTGGTCCTGGTTCACCTGCA	0.312																																																	0																																										SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2497_2498delinsTC	1.37:g.86430711_86430712delinsTC	ENSP00000359603:p.Pro833Glu		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P833Q|p.P833A	ENST00000370571.2	37	c.2498|c.2497	CCDS41353.1	1																																																																																			COL24A1	-	pfam_Collagen	ENSG00000171502		0.312	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	-	0	64|65	0	G	NM_152890		86430711|86430712	-1	tier1	-	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	T|C	TC	86430712	GG	TC	86430711	3	4	185	1	0	0	0	0	1	0	0	0	3690	1348	47	3	2798	3	COL24A1	1	86430711	Missense_Mutation	DNP	GG	TCGA-ZR-A9CJ-01B-11D-A387-09	10750369	86430711	162819910	7	46121											
DPYD	1806	genome.wustl.edu	37	chr1	98293720	98293720	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccaagagtcgtgtgcttgatGtcatcaaaattattctccag	11	13	8	9	1	3	2	2	1	1	1	5	2	3	2	2	0	1	1	2	0	4	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:98293720G>T	ENST00000370192.3	-	3	283	c.183C>A	c.(181-183)gaC>gaA	p.D61E	DPYD_ENST00000306031.5_Missense_Mutation_p.D61E|DPYD_ENST00000423006.2_Missense_Mutation_p.D24E	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	61					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGTGCTTGATGTCATCAAAAT	0.388																																																	0													103	92	96					1																	98293720		2203	4300	6503	SO:0001583	missense	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.183C>A	1.37:g.98293720G>T	ENSP00000359211:p.Asp61Glu		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.D61E	ENST00000370192.3	37	c.183	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498810	0.64298	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	T;T;T	0.68331	-0.32;-0.32;-0.32	5.57	5.57	0.84162	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.33093	0.98	0.58432	D	0.999995	D;D	0.76494	0.999;0.997	D;D	0.81914	0.954;0.995	T	0.58504	-0.7625	10	0.02654	T	1	-18.9025	19.5425	0.95280	0.0:0.0:1.0:0.0	.	61;61	E9PFN1;Q12882	.;DPYD_HUMAN	E	61;24;61	ENSP00000359211:D61E;ENSP00000398884:D24E;ENSP00000307107:D61E	ENSP00000307107:D61E	D	-	3	2	DPYD	98066308	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.496000	0.90485	2.606000	0.88127	0.563000	0.77884	GAC	DPYD	-	superfamily_Helical_ferredxn	ENSG00000188641		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3		0	25	0	G	NM_000110		98293720	-1			no_errors	ENST00000370192	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	98293720	G	T	98293720	3	4	185	1	0	0	0	0	1	0	0	0	4759	1368	48	3	3021	3	DPYD	1	98293720	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	11863009	98293720	150956901	8	46122											
VCAM1	7412	genome.wustl.edu	37	chr1	101190445	101190445	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtggaattaattgttcaAggtgagtagaatgtgaaaaa	16	11	13	1	0	1	3	1	2	0	1	1	5	1	4	0	3	0	2	0	3	7	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:101190445A>C	ENST00000294728.2	+	4	1028	c.927A>C	c.(925-927)caA>caC	p.Q309H	VCAM1_ENST00000370115.1_Splice_Site_p.Q309H|VCAM1_ENST00000370119.4_Splice_Site_p.Q247H|VCAM1_ENST00000347652.2_Splice_Site_p.Q309H	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	309	Ig-like C2-type 3.				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)	TAATTGTTCAAGGTGAGTAGA	0.368																																																	0													80	80	80					1																	101190445		2203	4300	6503	SO:0001630	splice_region_variant	0			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.928+1A>C	1.37:g.101190445A>C			A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N	p.Q309H	ENST00000294728.2	37	c.927	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	a	15.50	2.852005	0.51270	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.11821	2.74;4.0;2.74;2.74	5.38	4.26	0.50523	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.347201	0.32401	N	0.006143	T	0.12220	0.0297	M	0.62154	1.92	0.44579	D	0.997549	B;P;D	0.61080	0.049;0.898;0.989	B;P;P	0.57548	0.018;0.605;0.823	T	0.14531	-1.0469	10	0.16896	T	0.51	-3.7543	8.2535	0.31741	0.9092:0.0:0.0908:0.0	.	247;309;309	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	H	247;309;309;309	ENSP00000359137:Q247H;ENSP00000304611:Q309H;ENSP00000294728:Q309H;ENSP00000359133:Q309H	ENSP00000294728:Q309H	Q	+	3	2	VCAM1	100963033	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.598000	0.46223	0.998000	0.38996	0.529000	0.55759	CAA	VCAM1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000162692		0.368	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	-	0	26	0	A	NM_001078	Missense_Mutation	101190445	1	tier1	-	no_errors	ENST00000294728	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	C	C	101190445	A	C	101190445	5	2	185	1	0	0	0	0	0	0	1	0	17186	86	3	4	941	4	VCAM1	1	101190445	Splice_Site	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	2896725	101190445	148060176	9	46123											
PROK1	84432	genome.wustl.edu	37	chr1	110996633	110996633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcacctgctgtgccatcagCctgtggcttcgagggctgcg	4	9	15	13	2	1	0	1	0	0	0	2	1	1	0	3	3	4	4	3	3	0	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:110996633C>T	ENST00000271331.3	+	2	140	c.123C>T	c.(121-123)agC>agT	p.S41S	RP11-470L19.5_ENST00000481350.2_RNA	NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	41					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|regulation of angiogenesis (GO:0045765)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGCCATCAGCCTGTGGCTTC	0.622																																																	0													58	53	55					1																	110996633		2203	4300	6503	SO:0001819	synonymous_variant	0			AF333024	CCDS825.1	1p21	2013-02-28			ENSG00000143125	ENSG00000143125		"Endogenous ligands"	18454	protein-coding gene	gene with protein product	"black mamba toxin-related protein", "mambakine"	606233				11259612	Standard	NM_032414		Approved	PK1, PRK1, EGVEGF	uc001dzs.3	P58294	OTTHUMG00000011569	ENST00000271331.3:c.123C>T	1.37:g.110996633C>T			Q5VWD4|Q8TC69	Silent	SNP	pfam_Prokineticin_domain	p.S41	ENST00000271331.3	37	c.123	CCDS825.1	1																																																																																			PROK1	-	pfam_Prokineticin_domain	ENSG00000143125		0.622	PROK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROK1	HGNC	protein_coding	OTTHUMT00000031969.1	-	0	47	0	C	NM_032414		110996633	1	tier1	-	no_errors	ENST00000271331	ensembl	human	known	74_37	silent	22.45	38	11	SNP	1.000	T	T	110996633	C	T	110996633	2	4	185	1	0	0	0	0	0	0	0	1	12592	738	26	3		3	PROK1	1	110996633	Silent	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	9806188	110996633	138253988	10	46124											
NGF	4803	genome.wustl.edu	37	chr1	115829298	115829298	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtgtcaagggaatgctgaAgtttagtccagtgggcttgg	9	11	15	6	0	1	1	1	1	0	0	2	2	2	2	1	3	1	3	1	3	4	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:115829298A>C	ENST00000369512.2	-	3	287	c.119T>G	c.(118-120)cTt>cGt	p.L40R	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	40					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GGAATGCTGAAGTTTAGTCCA	0.602																																																	0													110	88	95					1																	115829298		2203	4300	6503	SO:0001583	missense	0				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.119T>G	1.37:g.115829298A>C	ENSP00000358525:p.Leu40Arg		A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel	p.L40R	ENST00000369512.2	37	c.119	CCDS882.1	1	.	.	.	.	.	.	.	.	.	.	A	4.961	0.178437	0.09443	.	.	ENSG00000134259	ENST00000369512	T	0.62639	0.01	5.36	4.24	0.50183	.	0.382752	0.25494	N	0.030281	T	0.19644	0.0472	N	0.13098	0.295	0.09310	N	0.999999	P	0.39964	0.697	B	0.38562	0.276	T	0.02358	-1.1171	10	0.21540	T	0.41	-13.2042	3.6848	0.08324	0.6864:0.0:0.3136:0.0	.	40	P01138	NGF_HUMAN	R	40	ENSP00000358525:L40R	ENSP00000358525:L40R	L	-	2	0	NGF	115630821	1.000000	0.71417	0.948000	0.38648	0.794000	0.44872	2.120000	0.41968	2.028000	0.59812	0.383000	0.25322	CTT	NGF	-	pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor_bsu_mml	ENSG00000134259		0.602	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGF	HGNC	protein_coding	OTTHUMT00000032832.1	-	0	43	0	A	NM_002506		115829298	-1	tier1	-	no_errors	ENST00000369512	ensembl	human	known	74_37	missense	28.00	36	14	SNP	0.157	C	C	115829298	A	C	115829298	3	2	185	1	0	0	0	0	1	0	0	0	10434	72	3	4	610	4	NGF	1	115829298	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	4832665	115829298	133421323	11	46125											
LIX1L	128077	genome.wustl.edu	37	chr1	145498738	145498738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	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	gaaagatattcttgtgctggCtgctgggcagttgggcaata	9	12	14	6	0	1	1	0	0	1	1	1	2	1	1	0	3	2	6	0	3	4	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:145498738C>T	ENST00000369308.3	+	6	1048	c.974C>T	c.(973-975)gCt>gTt	p.A325V	RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	325										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGTGCTGGCTGCTGGGCAG	0.522																																																	0													47	45	46					1																	145498738		2203	4300	6503	SO:0001583	missense	0			AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"Lix1 homolog (mouse) like", "Lix1 homolog (chicken)-like"			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.974C>T	1.37:g.145498738C>T	ENSP00000358314:p.Ala325Val		Q6AI36	Missense_Mutation	SNP	NULL	p.A325V	ENST00000369308.3	37	c.974	CCDS915.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.316169	0.95655	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.76335	0.3973	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78658	-0.2118	9	0.87932	D	0	-13.6724	16.5103	0.84282	0.0:1.0:0.0:0.0	.	325	Q8IVB5	LIX1L_HUMAN	V	325;272	.	ENSP00000358314:A325V	A	+	2	0	LIX1L	144210095	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.465000	0.80898	2.758000	0.94735	0.563000	0.77884	GCT	LIX1L	-	NULL	ENSG00000152022		0.522	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIX1L	HGNC	protein_coding	OTTHUMT00000038513.1	-	0	43	0	C	NM_153713		145498738	1	tier1	-	no_errors	ENST00000369308	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	145498738	C	T	145498738	3	4	185	1	0	0	0	0	1	0	0	0	8862	797	28	3	996	3	LIX1L	1	145498738	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	29669440	145498738	103751883	12	46126											
FLG2	388698	genome.wustl.edu	37	chr1	152327323	152327323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccagaggattttcctgagCctgactcatgttgtccaaag	10	11	10	10	0	1	3	1	2	0	1	3	4	3	4	4	1	2	1	4	1	1	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:152327323C>A	ENST00000388718.5	-	3	3011	c.2939G>T	c.(2938-2940)gGc>gTc	p.G980V	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	980	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCCTGAGCCTGACTCATG	0.498																																																	0													258	260	259					1																	152327323		2203	4300	6503	SO:0001583	missense	0			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.2939G>T	1.37:g.152327323C>A	ENSP00000373370:p.Gly980Val		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G980V	ENST00000388718.5	37	c.2939	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	9.831	1.188454	0.21954	.	.	ENSG00000143520	ENST00000388718	T	0.43294	0.95	3.96	2.02	0.26589	.	.	.	.	.	T	0.19167	0.0460	L	0.41961	1.31	0.09310	N	0.999995	D	0.54964	0.969	P	0.44732	0.459	T	0.03898	-1.0994	9	0.56958	D	0.05	1.3468	6.3918	0.21591	0.0:0.7628:0.0:0.2372	.	980	Q5D862	FILA2_HUMAN	V	980	ENSP00000373370:G980V	ENSP00000373370:G980V	G	-	2	0	FLG2	150593947	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	0.317000	0.19487	0.878000	0.35920	0.561000	0.74099	GGC	FLG2	-	NULL	ENSG00000143520		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0	160	0	C	NM_001014342		152327323	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	29.70	141	60	SNP	0.002	A	A	152327323	C	A	152327323	3	1	185	1	0	0	0	0	1	0	0	0	5945	739	26	3	4240	3	FLG2	1	152327323	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	6828585	152327323	96923298	13	46127											
AQP10	89872	genome.wustl.edu	37	chr1	154295554	154295554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttggtgcagttgctgtCtgctttctgtgcttcgggag	3	16	13	9	1	3	0	0	0	3	0	4	1	3	1	0	2	4	5	0	2	0	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:154295554C>A	ENST00000324978.3	+	3	369	c.329C>A	c.(328-330)tCt>tAt	p.S110Y	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.S110Y|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	110					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)			CAGTTGCTGTCTGCTTTCTGT	0.592																																																	0													148	140	142					1																	154295554		2203	4300	6503	SO:0001583	missense	0			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.329C>A	1.37:g.154295554C>A	ENSP00000318355:p.Ser110Tyr		Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP	p.S110Y	ENST00000324978.3	37	c.329	CCDS1065.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137724	0.77775	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.11385	2.78;2.78	4.92	4.92	0.64577	Aquaporin-like (2);	0.265199	0.35677	N	0.003059	T	0.09992	0.0245	L	0.47716	1.5	0.32374	N	0.555484	D;D	0.57571	0.98;0.963	P;P	0.52267	0.694;0.671	T	0.01001	-1.1485	10	0.87932	D	0	.	11.893	0.52641	0.0:0.7182:0.2817:0.0	.	110;110	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	Y	110	ENSP00000318355:S110Y;ENSP00000420341:S110Y	ENSP00000318355:S110Y	S	+	2	0	AQP10	152562178	0.999000	0.42202	1.000000	0.80357	0.917000	0.54804	4.628000	0.61282	2.585000	0.87301	0.555000	0.69702	TCT	AQP10	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	ENSG00000143595		0.592	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	-	0	56	0	C	NM_080429		154295554	1	tier1	-	no_errors	ENST00000324978	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A	A	154295554	C	A	154295554	3	1	185	1	0	0	0	0	1	0	0	0	822	913	32	3	339	3	AQP10	1	154295554	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	1968231	154295554	94955067	14	46128											
CHRNB2	1141	genome.wustl.edu	37	chr1	154544295	154544295	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacgcacaccatggcGccctgggtgaaggtcgtctt	7	7	11	16	3	1	1	0	1	1	0	2	1	1	1	4	3	0	1	4	3	1	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:154544295G>A	ENST00000368476.3	+	5	1260	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	332					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)			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)	ACACCATGGCGCCCTGGGTGA	0.642																																																	0													71	51	58					1																	154544295		2203	4300	6503	SO:0001819	synonymous_variant	0			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.996G>A	1.37:g.154544295G>A			Q9UEH9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A332	ENST00000368476.3	37	c.996	CCDS1070.1	1																																																																																			CHRNB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000160716		0.642	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	-	0	13	0	G	NM_000748		154544295	1	tier1	-	no_errors	ENST00000368476	ensembl	human	known	74_37	silent	19.35	25	6	SNP	0.543	A	A	154544295	G	A	154544295	2	1	185	1	0	0	0	0	0	0	0	1	3398	1074	38	1		1	CHRNB2	1	154544295	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	248741	154544295	94706326	15	46129											
LMNA	4000	genome.wustl.edu	37	chr1	156084801	156084803	+	In_Frame_Del	DEL	AGA	AGA	-																															ccgcatcacccggctgcaggAgaaggaggacctgcaggagc																								rs60872029		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:156084801_156084803delAGA	ENST00000368300.4	+	1	304_306	c.92_94delAGA	c.(91-96)gagaag>gag	p.K32del	LMNA_ENST00000368301.2_In_Frame_Del_p.K32del|LMNA_ENST00000361308.4_In_Frame_Del_p.K32del|LMNA_ENST00000368299.3_In_Frame_Del_p.K32del|LMNA_ENST00000347559.2_In_Frame_Del_p.K32del	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	32	Head.|Interaction with MLIP.		Missing (in EDMD2). {ECO:0000269|PubMed:14684700}.		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)					CGGCTGCAGGAGAAGGAGGACCT	0.695									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																								0			GRCh37	CD033712	LMNA	D	rs60872029																																			SO:0001651	inframe_deletion	0	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.92_94delAGA	1.37:g.156084801_156084803delAGA	ENSP00000357283:p.Lys32del		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	In_Frame_Del	DEL	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.K32in_frame_del	ENST00000368300.4	37	c.92_94	CCDS1129.1	1																																																																																			LMNA	-	pfam_IF	ENSG00000160789		0.695	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNA	HGNC	protein_coding	OTTHUMT00000039200.2		0	52	0	AGA	NM_170707		156084803	1	tier1		no_errors	ENST00000368300	ensembl	human	known	74_37	in_frame_del	14.58	41	7	DEL	1.000:1.000:1.000	-	-	156084803	AGA	-	156084801	7	5	185	1	0	1	0	1	0	0	0	0	8878	304	11	0	94	0	LMNA	1	156084801	In_Frame_Del	DEL	AGA	TCGA-ZR-A9CJ-01B-11D-A387-09	1540506	156084801	93165820	16	46130											
FCRL5	83416	genome.wustl.edu	37	chr1	157508906	157508906	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggctcaccgccttactgcGctgggggccaaagccattgt	7	8	13	13	2	1	0	1	0	0	0	1	1	1	0	4	3	3	2	4	3	2	2	rs149906130	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:157508906G>C	ENST00000361835.3	-	7	1529	c.1372C>G	c.(1372-1374)Cgc>Ggc	p.R458G	FCRL5_ENST00000368190.3_Missense_Mutation_p.R458G|FCRL5_ENST00000356953.4_Missense_Mutation_p.R458G|FCRL5_ENST00000368191.3_Missense_Mutation_p.R373G|FCRL5_ENST00000368189.3_Missense_Mutation_p.R458G	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	458	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCCTTACTGCGCTGGGGGCCA	0.582																																																	0													58	49	52					1																	157508906		2203	4300	6503	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1372C>G	1.37:g.157508906G>C	ENSP00000354691:p.Arg458Gly		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R458G	ENST00000361835.3	37	c.1372	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990090	0.54041	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	3.17	-4.55	0.03441	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17492	0.0420	M	0.93420	3.415	0.09310	N	1	D;D;P;D;D;D	0.60160	0.985;0.957;0.873;0.96;0.987;0.982	P;P;P;P;P;P	0.62885	0.908;0.733;0.457;0.891;0.837;0.81	T	0.10660	-1.0620	9	0.23302	T	0.38	.	4.0358	0.09729	0.2181:0.0:0.2386:0.5433	.	489;373;458;458;458;458	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	G	458;458;458;373;458	ENSP00000354691:R458G;ENSP00000349434:R458G;ENSP00000357173:R458G;ENSP00000357174:R373G;ENSP00000357172:R458G	ENSP00000349434:R458G	R	-	1	0	FCRL5	155775530	0.000000	0.05858	0.000000	0.03702	0.661000	0.39034	-0.344000	0.07780	-0.827000	0.04278	0.462000	0.41574	CGC	FCRL5	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143297		0.582	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	-	0	83	0	G	NM_031281		157508906	-1	tier1	-	no_errors	ENST00000356953	ensembl	human	known	74_37	missense	15.91	74	14	SNP	0.000	C	C	157508906	G	C	157508906	3	2	185	1	0	0	0	0	1	0	0	0	5820	1087	38	5	1605	5	FCRL5	1	157508906	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	1424105	157508906	91741715	17	46131											
SPTA1	6708	genome.wustl.edu	37	chr1	158592923	158592923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaatcagtttgtccttcagGtcagtgatctcgggaagtct	9	13	11	8	1	5	1	3	1	2	0	7	3	6	2	1	2	0	1	1	2	2	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:158592923G>A	ENST00000368147.4	-	43	6150	c.5970C>T	c.(5968-5970)gaC>gaT	p.D1990D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1990					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)					TGTCCTTCAGGTCAGTGATCT	0.502																																																	0													309	312	311					1																	158592923		1935	4133	6068	SO:0001819	synonymous_variant	0			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.5970C>T	1.37:g.158592923G>A			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.D1990	ENST00000368147.4	37	c.5970	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	30	0	G	NM_003126		158592923	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	silent	32.00	34	16	SNP	0.839	A	A	158592923	G	A	158592923	2	1	185	1	0	0	0	0	0	0	0	1	15163	1252	44	3		3	SPTA1	1	158592923	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	1084017	158592923	90657698	18	46132											
CACNA1E	777	genome.wustl.edu	37	chr1	181767512	181767512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcggcagctcccacccGtcccgccaaagccccggccc	5	4	10	22	5	0	0	0	0	0	0	4	0	2	0	7	2	2	2	7	2	1	0	rs373618053	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:181767512G>A	ENST00000367573.2	+	48	6484	c.6484G>A	c.(6484-6486)Gtc>Atc	p.V2162I	CACNA1E_ENST00000360108.3_Missense_Mutation_p.V2143I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V2051I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V2119I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1726I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V2100I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V2113I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2162					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						GCTCCCACCCGTCCCGCCAAA	0.627													G|||	3	0.000599042	0.0015	0	5008	,	,		16293	0		0	False		,,,				2504	0.001																0								G	ILE/VAL,ILE/VAL,ILE/VAL	1,3993		0,1,1996	81	94	90		6355,6484,6298	3.7	0.3	1		90	1,8307		0,1,4153	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,2,6149	AA,AG,GG		0.012,0.025,0.0163	possibly-damaging,possibly-damaging,possibly-damaging	2119/2271,2162/2314,2100/2252	181767512	2,12300	1997	4154	6151	SO:0001583	missense	0			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.6484G>A	1.37:g.181767512G>A	ENSP00000356545:p.Val2162Ile		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.V2162I	ENST00000367573.2	37	c.6484	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654889	0.67472	2.5E-4	1.2E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96300	-3.9;-3.9;-3.9;-3.9;-3.97;-3.91;-3.9	5.55	3.66	0.41972	.	0.405200	0.26432	N	0.024414	D	0.93197	0.7833	N	0.22421	0.69	0.37095	D	0.899647	D;B	0.61080	0.989;0.306	P;B	0.47915	0.561;0.038	D	0.93286	0.6664	10	0.66056	D	0.02	.	11.6544	0.51309	0.0684:0.1229:0.8087:0.0	.	2100;2119	Q15878-2;Q15878-3	.;.	I	2119;2100;2113;2051;1726;2143;2162	ENSP00000356542:V2119I;ENSP00000434814:V2100I;ENSP00000350183:V2113I;ENSP00000351101:V2051I;ENSP00000356539:V1726I;ENSP00000353222:V2143I;ENSP00000356545:V2162I	ENSP00000350183:V2113I	V	+	1	0	CACNA1E	180034135	1.000000	0.71417	0.258000	0.24420	0.878000	0.50629	3.732000	0.55021	0.665000	0.31066	-0.336000	0.08194	GTC	CACNA1E	-	NULL	ENSG00000198216		0.627	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	35	0	G	NM_000721		181767512	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.914	A	A	181767512	G	A	181767512	3	1	185	1	0	0	0	0	1	0	0	0	2549	1145	40	1	6541	1	CACNA1E	1	181767512	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	23174589	181767512	67483109	19	46133											
NFASC	23114	genome.wustl.edu	37	chr1	204978801	204978801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcatcaagaggagtcgcGgcggcaagtacccaggtgag	10	7	15	9	3	2	2	2	1	0	1	3	3	2	3	1	4	1	3	1	4	3	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:204978801G>A	ENST00000401399.1	+	27	3605	c.3406G>A	c.(3406-3408)Ggc>Agc	p.G1136S	NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Missense_Mutation_p.G1228S|NFASC_ENST00000367170.4_Missense_Mutation_p.G1164S|NFASC_ENST00000404076.1_Missense_Mutation_p.G1053S|NFASC_ENST00000539706.1_Missense_Mutation_p.G1070S|NFASC_ENST00000513543.1_Missense_Mutation_p.G1065S|NFASC_ENST00000404907.1_Missense_Mutation_p.G1070S|NFASC_ENST00000339876.6_Missense_Mutation_p.G1136S|NFASC_ENST00000338515.6_Missense_Mutation_p.G1153S|NFASC_ENST00000367169.4_Missense_Mutation_p.G967S|NFASC_ENST00000338586.6_Missense_Mutation_p.G1120S|NFASC_ENST00000360049.4_Missense_Mutation_p.G1065S|NFASC_ENST00000367172.4_Missense_Mutation_p.G1243S			O94856	NFASC_HUMAN	neurofascin	1243	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)			GAGGAGTCGCGGCGGCAAGTA	0.617																																																	0													61	49	53					1																	204978801		2203	4300	6503	SO:0001583	missense	0			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.3406G>A	1.37:g.204978801G>A	ENSP00000385637:p.Gly1136Ser		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1243S	ENST00000401399.1	37	c.3727	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.004693|5.004693	0.93287|0.93287	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000447819|ENST00000413225	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|D	0.92647|0.89343	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08|-2.5	5.27|5.27	4.35|4.35	0.52113|0.52113	.|.	0.129611|.	0.34314|.	N|.	0.004072|.	D|D	0.93609|0.93609	0.7959|0.7959	M|M	0.85299|0.85299	2.745|2.745	0.34981|0.34981	D|D	0.754116|0.754116	D;D;D;D;D;D;D|.	0.89917|.	0.998;0.981;1.0;0.999;1.0;0.997;1.0|.	P;D;D;D;D;P;D|.	0.83275|.	0.787;0.97;0.985;0.987;0.979;0.833;0.996|.	D|D	0.96764|0.96764	0.9563|0.9563	10|7	0.87932|0.72032	D|D	0|0.01	.|.	13.8123|13.8123	0.63270|0.63270	0.0761:0.0:0.9239:0.0|0.0761:0.0:0.9239:0.0	.|.	1243;1085;1070;1120;962;1136;1065|.	O94856;O94856-11;O94856-8;F8W8X7;O94856-4;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.;.|.	S|Q	1243;1228;1164;1153;1136;1120;1085;1070;1065;967;1053;1136;1070;1065;1061;114|182	ENSP00000356140:G1243S;ENSP00000356139:G1228S;ENSP00000356138:G1164S;ENSP00000342128:G1153S;ENSP00000344786:G1136S;ENSP00000343509:G1120S;ENSP00000438614:G1070S;ENSP00000353154:G1065S;ENSP00000356137:G967S;ENSP00000385676:G1053S;ENSP00000385637:G1136S;ENSP00000384061:G1070S;ENSP00000425908:G1065S;ENSP00000415031:G1061S;ENSP00000416891:G114S|ENSP00000393290:R182Q	ENSP00000295776:G1085S|ENSP00000393290:R182Q	G|R	+|+	1|2	0|0	NFASC|NFASC	203245424|203245424	1.000000|1.000000	0.71417|0.71417	0.408000|0.408000	0.26446|0.26446	0.993000|0.993000	0.82548|0.82548	7.947000|7.947000	0.87758|0.87758	2.428000|2.428000	0.82296|0.82296	0.655000|0.655000	0.94253|0.94253	GGC|CGG	NFASC	-	NULL	ENSG00000163531		0.617	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	-	0	33	0	G	NM_001005388		204978801	1	tier1	-	no_errors	ENST00000367172	ensembl	human	known	74_37	missense	23.91	35	11	SNP	0.998	A	A	204978801	G	A	204978801	3	1	185	1	0	0	0	0	1	0	0	0	10398	1116	39	1	3921	1	NFASC	1	204978801	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	23211289	204978801	44271820	20	46134											
PLXNA2	5362	genome.wustl.edu	37	chr1	208206672	208206672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggggagttaccttggtggCcagtagccgggtcaggtaga	8	8	18	7	1	1	1	1	0	0	1	1	2	1	2	3	6	2	3	3	6	3	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:208206672C>T	ENST00000367033.3	-	28	5804	c.5047G>A	c.(5047-5049)Gcc>Acc	p.A1683T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1683					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)		ACCTTGGTGGCCAGTAGCCGG	0.577																																																	0													119	108	112					1																	208206672		2203	4300	6503	SO:0001583	missense	0			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.5047G>A	1.37:g.208206672C>T	ENSP00000356000:p.Ala1683Thr		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.A1683T	ENST00000367033.3	37	c.5047	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.727946	0.96856	.	.	ENSG00000076356	ENST00000367033	T	0.13089	2.62	5.53	5.53	0.82687	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.098877	0.64402	D	0.000001	T	0.36166	0.0957	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03296	-1.1051	10	0.87932	D	0	.	19.4936	0.95062	0.0:1.0:0.0:0.0	.	1683	O75051	PLXA2_HUMAN	T	1683	ENSP00000356000:A1683T	ENSP00000356000:A1683T	A	-	1	0	PLXNA2	206273295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.538000	0.82048	2.605000	0.88082	0.655000	0.94253	GCC	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000076356		0.577	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6		0	40	0	C	NM_025179		208206672	-1			no_errors	ENST00000367033	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	208206672	C	T	208206672	3	4	185	1	0	0	0	0	1	0	0	0	12159	739	26	3	657	3	PLXNA2	1	208206672	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	3227871	208206672	41043949	21	46135											
USH2A	7399	genome.wustl.edu	37	chr1	216040378	216040378	+	Missense_Mutation	SNP	G	G	A	0	0	1	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	cccacctcacgtcgatggctGtgtggttaaggacactcgca	8	9	11	13	3	1	0	1	0	0	0	3	2	1	1	2	3	0	3	2	3	1	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:216040378G>A	ENST00000307340.3	-	44	9202	c.8816C>T	c.(8815-8817)aCa>aTa	p.T2939I	USH2A_ENST00000366943.2_Missense_Mutation_p.T2939I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2939	Fibronectin type-III 16. {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)		GTCGATGGCTGTGTGGTTAAG	0.438										HNSCC(13;0.011)																																							0													166	135	146					1																	216040378		2203	4300	6503	SO:0001583	missense	0			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.8816C>T	1.37:g.216040378G>A	ENSP00000305941:p.Thr2939Ile		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T2939I	ENST00000307340.3	37	c.8816	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.386085	0.95967	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.61742	0.08;0.08	5.72	4.81	0.61882	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000424	T	0.76263	0.3963	M	0.81239	2.535	0.43471	D	0.995689	D	0.89917	1.0	D	0.79784	0.993	T	0.79165	-0.1916	10	0.54805	T	0.06	.	14.4551	0.67411	0.0707:0.0:0.9293:0.0	.	2939	O75445	USH2A_HUMAN	I	2939	ENSP00000305941:T2939I;ENSP00000355910:T2939I	ENSP00000305941:T2939I	T	-	2	0	USH2A	214107001	1.000000	0.71417	0.703000	0.30354	0.847000	0.48162	4.340000	0.59328	1.422000	0.47177	0.557000	0.71058	ACA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	35	0	G	NM_007123		216040378	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	15.79	63	12	SNP	0.992	A	A	216040378	G	A	216040378	3	1	185	1	0	0	0	0	1	0	0	0	17085	1377	48	3	6908	3	USH2A	1	216040378	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	7833706	216040378	33210243	22	46136											
RAB3GAP2	25782	genome.wustl.edu	37	chr1	220330778	220330778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccttccacggagagccacGcatcctcagtatccagcaca	10	7	8	16	2	1	1	1	0	0	1	5	2	5	1	5	1	2	3	5	1	1	2	rs369410531		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:220330778G>A	ENST00000358951.2	-	31	3505	c.3389C>T	c.(3388-3390)gCg>gTg	p.A1130V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1130					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GGAGAGCCACGCATCCTCAGT	0.502																																																	0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	111	99	103		3389	3.6	0.1	1		103	0,8600		0,0,4300	no	missense	RAB3GAP2	NM_012414.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1130/1394	220330778	1,13005	2203	4300	6503	SO:0001583	missense	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3389C>T	1.37:g.220330778G>A	ENSP00000351832:p.Ala1130Val		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.A1130V	ENST00000358951.2	37	c.3389	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	G	7.358	0.624306	0.14193	2.27E-4	0.0	ENSG00000118873	ENST00000358951	T	0.33438	1.41	5.47	3.6	0.41247	.	0.278782	0.39834	N	0.001253	T	0.18800	0.0451	L	0.29908	0.895	0.49299	D	0.999779	B;B	0.34372	0.451;0.451	B;B	0.34242	0.178;0.178	T	0.03840	-1.0999	10	0.02654	T	1	.	11.9408	0.52899	0.1413:0.0:0.8587:0.0	.	1130;1130	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	V	1130	ENSP00000351832:A1130V	ENSP00000351832:A1130V	A	-	2	0	RAB3GAP2	218397401	0.997000	0.39634	0.071000	0.20095	0.988000	0.76386	3.624000	0.54231	0.678000	0.31325	0.655000	0.94253	GCG	RAB3GAP2	-	NULL	ENSG00000118873		0.502	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2		0	40	0	G	NM_012414		220330778	-1			no_errors	ENST00000358951	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.902	A	A	220330778	G	A	220330778	3	1	185	1	0	0	0	0	1	0	0	0	12981	1087	38	1	812	1	RAB3GAP2	1	220330778	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	4290400	220330778	28919843	23	46137											
ACTN2	88	genome.wustl.edu	37	chr1	236914952	236914952	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccggaccaagtgggacaaGgtgggtggctgagggcctgg	7	6	19	9	1	0	1	0	1	0	0	1	3	1	3	3	7	0	1	3	7	2	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:236914952G>T	ENST00000366578.4	+	15	2005	c.1839G>T	c.(1837-1839)aaG>aaT	p.K613N	ACTN2_ENST00000546208.1_Splice_Site_p.K107N|ACTN2_ENST00000542672.1_Splice_Site_p.K613N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	613					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGTGGGACAAGGTGGGTGGCT	0.567																																																	0													83	75	78					1																	236914952		2203	4300	6503	SO:0001630	splice_region_variant	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1839+1G>T	1.37:g.236914952G>T			B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.K613N	ENST00000366578.4	37	c.1839	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356136	0.41700	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.66995	-0.24;-0.24;-0.24	4.89	4.89	0.63831	.	0.214974	0.48286	D	0.000188	T	0.61837	0.2379	N	0.26130	0.795	0.58432	D	0.999999	P;B;P;P	0.46912	0.69;0.007;0.886;0.561	B;B;P;B	0.47075	0.434;0.01;0.536;0.218	T	0.61530	-0.7044	10	0.32370	T	0.25	.	18.0397	0.89315	0.0:0.0:1.0:0.0	.	398;613;383;613	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	N	613;613;107;382	ENSP00000443495:K613N;ENSP00000355537:K613N;ENSP00000438384:K107N	ENSP00000355537:K613N	K	+	3	2	ACTN2	234981575	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.764000	0.62264	2.265000	0.75225	0.563000	0.77884	AAG	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.567	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1		0	55	0	G	NM_001103	Missense_Mutation	236914952	1			no_errors	ENST00000366578	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	236914952	G	T	236914952	5	4	185	1	0	0	0	0	0	0	1	0	205	1014	35	3	1897	3	ACTN2	1	236914952	Splice_Site	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	16584174	236914952	12335669	24	46138											
CHRM3	1131	genome.wustl.edu	37	chr1	240072260	240072260	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcttgccttcatcatcacTtggaccccatacaacatcat	10	13	4	14	0	4	0	4	0	0	0	4	1	4	1	3	1	4	1	3	1	2	5	rs202061144		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:240072260T>G	ENST00000255380.4	+	5	2288	c.1509T>G	c.(1507-1509)acT>acG	p.T503T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	503					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)	TCATCATCACTTGGACCCCAT	0.493																																																	0													157	138	145					1																	240072260		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1509T>G	1.37:g.240072260T>G			Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.T503	ENST00000255380.4	37	c.1509	CCDS1616.1	1																																																																																			CHRM3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000133019		0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	-	0	38	0	T	NM_000740		240072260	1	tier1	-	no_errors	ENST00000255380	ensembl	human	known	74_37	silent	16.36	46	9	SNP	0.959	G	G	240072260	T	G	240072260	2	3	185	1	0	0	0	0	0	0	0	1	3385	1596	56	4		4	CHRM3	1	240072260	Silent	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	3157308	240072260	9178361	25	46139											
ZNF238	10472	genome.wustl.edu	37	chr1	244217095	244217095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctctctccccaggttatGaagacagtatggagtttcca	9	13	8	11	0	1	2	0	1	1	1	5	3	4	3	4	2	0	3	4	2	3	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:244217095G>A	ENST00000358704.4	+	2	168	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K		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	0					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)										CCCAGGTTATGAAGACAGTAT	0.473																																																	0													60	59	59					1																	244217095		2203	4300	6503	SO:0001583	missense	0			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.19G>A	1.37:g.244217095G>A	ENSP00000351539:p.Glu7Lys		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E7K	ENST00000358704.4	37	c.19	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177457	0.57692	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.11712	2.75	5.22	5.22	0.72569	.	0.382752	0.23076	N	0.052209	T	0.20780	0.0500	N	0.22421	0.69	0.58432	D	0.999999	D	0.60575	0.988	P	0.62885	0.908	T	0.02774	-1.1112	10	0.66056	D	0.02	.	18.7661	0.91873	0.0:0.0:1.0:0.0	.	7	Q99592-2	.	K	7	ENSP00000351539:E7K	ENSP00000351539:E7K	E	+	1	0	ZNF238	242283718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.432000	0.82394	0.655000	0.94253	GAA	ZBTB18	-	superfamily_BTB/POZ_fold	ENSG00000179456		0.473	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB18	HGNC	protein_coding	OTTHUMT00000096513.2	-	0	106	0	G	NM_205768		244217095	1	tier1	-	no_errors	ENST00000358704	ensembl	human	known	74_37	missense	20.88	72	19	SNP	1.000	A	A	244217095	G	A	244217095	3	1	185	1	0	0	0	0	1	0	0	0	17838	1291	45	3	25	3	ZNF238	1	244217095	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	4144835	244217095	5033526	26	46140											
OR1C1	26188	genome.wustl.edu	37	chr1	247921595	247921595	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagcatgttccccaaggtGgtggctaaatacatacagag	13	9	11	8	0	0	2	0	1	0	1	1	2	1	2	2	3	3	3	2	3	5	4	rs536033246		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:247921595G>T	ENST00000408896.2	-	1	387	c.114C>A	c.(112-114)acC>acA	p.T38T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, 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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCCCCAAGGTGGTGGCTAAAT	0.478																																																	0													62	61	61					1																	247921595		2093	4230	6323	SO:0001819	synonymous_variant	0			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.114C>A	1.37:g.247921595G>T			B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T38	ENST00000408896.2	37	c.114	CCDS41481.1	1																																																																																			OR1C1	-	prints_GPCR_Rhodpsn	ENSG00000221888		0.478	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	HGNC	protein_coding	OTTHUMT00000096855.1	-	0	42	0	G			247921595	-1	tier1	-	no_errors	ENST00000408896	ensembl	human	known	74_37	silent	23.08	40	12	SNP	0.000	T	T	247921595	G	T	247921595	2	4	185	1	0	0	0	0	0	0	0	1	10991	1335	47	3		3	OR1C1	1	247921595	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	3704500	247921595	1329026	27	46141											
FBXO41	150726	genome.wustl.edu	37	chr2	73487918	73487918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcacccccgacccccaggGcccgcaggtggggccaacag	7	1	14	19	3	0	0	0	0	0	0	0	1	0	0	6	5	1	2	6	5	1	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:73487918G>A	ENST00000521871.1	-	10	2655	c.2240C>T	c.(2239-2241)gCc>gTc	p.A747V	FBXO41_ENST00000520530.2_Missense_Mutation_p.A747V|FBXO41_ENST00000295133.5_Missense_Mutation_p.A808V			Q8TF61	FBX41_HUMAN	F-box protein 41	747										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GACCCCCAGGGCCCGCAGGTG	0.662																																																	0													14	18	17					2																	73487918		1890	4096	5986	SO:0001583	missense	0			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.2240C>T	2.37:g.73487918G>A	ENSP00000428646:p.Ala747Val		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	superfamily_F-box_dom	p.A808V	ENST00000521871.1	37	c.2423	CCDS46337.2	2	.	.	.	.	.	.	.	.	.	.	G	31	5.101858	0.94245	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	T;T	0.51325	0.71;0.71	4.55	3.65	0.41850	.	0.117444	0.56097	D	0.000021	T	0.40767	0.1130	L	0.29908	0.895	0.80722	D	1	P	0.38395	0.629	B	0.42282	0.382	T	0.35375	-0.9791	10	0.49607	T	0.09	.	13.2228	0.59899	0.0:0.1614:0.8386:0.0	.	747	Q8TF61	FBX41_HUMAN	V	808;747	ENSP00000295133:A808V;ENSP00000428646:A747V	ENSP00000295133:A808V	A	-	2	0	FBXO41	73341426	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.107000	0.77047	1.115000	0.41800	0.561000	0.74099	GCC	FBXO41	-	NULL	ENSG00000163013		0.662	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1	-	0	90	0	G			73487918	-1	tier1	-	no_errors	ENST00000295133	ensembl	human	known	74_37	missense	12.12	87	12	SNP	1.000	A	A	73487918	G	A	73487918	3	1	185	1	0	0	0	0	1	0	0	0	5772	1203	42	3	403	3	FBXO41	2	73487918	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09		73487918	169711455	28	46142											
LRRTM1	347730	genome.wustl.edu	37	chr2	80530905	80530905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccccgagggcctcctcaGcagccagtatagacagagac	11	4	10	16	1	1	2	1	0	0	2	2	4	2	2	5	1	2	2	5	1	2	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:80530905G>A	ENST00000295057.3	-	2	696	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L14L	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	14					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGCCTCCTCAGCAGCCAGTAT	0.612										HNSCC(69;0.2)																																							0													25	28	27					2																	80530905		2012	4128	6140	SO:0001819	synonymous_variant	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.40C>T	2.37:g.80530905G>A			A8K397|D6W5K1|Q96DN1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L14	ENST00000295057.3	37	c.40	CCDS1966.1	2																																																																																			LRRTM1	-	NULL	ENSG00000162951		0.612	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1		0	69	0	G	NM_178839		80530905	-1			no_errors	ENST00000295057	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	A	A	80530905	G	A	80530905	2	1	185	1	0	0	0	0	0	0	0	1	9074	962	34	3		3	LRRTM1	2	80530905	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	7042987	80530905	162668468	29	46143											
NEB	4703	genome.wustl.edu	37	chr2	152450810	152450810	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtggcccagttgcttaCggtaaccttctttgtatttg	5	17	11	8	1	1	0	0	0	1	0	1	0	1	0	2	3	3	4	2	3	3	7	rs527746468	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:152450810C>T	ENST00000172853.10	-	77	11749				NEB_ENST00000397345.3_Missense_Mutation_p.R4743H|NEB_ENST00000604864.1_Missense_Mutation_p.R4743H|NEB_ENST00000603639.1_Missense_Mutation_p.R4743H|NEB_ENST00000409198.1_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.R4743H			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)		CAGTTGCTTACGGTAACCTTC	0.383													C|||	2	0.000399361	0.0015	0	5008	,	,		20749	0		0	False		,,,				2504	0																0													1	1	1					2																	152450810		435	939	1374	SO:0001627	intron_variant	0			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.11601+15512G>A	2.37:g.152450810C>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R4743H	ENST00000172853.10	37	c.14228		2	.	.	.	.	.	.	.	.	.	.	c	13.78	2.337875	0.41398	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.47177	0.85;0.85	2.69	2.69	0.31865	.	.	.	.	.	T	0.57272	0.2042	L	0.60067	1.865	0.80722	D	1	.	.	.	.	.	.	T	0.63773	-0.6561	7	0.66056	D	0.02	.	13.7811	0.63084	0.0:1.0:0.0:0.0	.	.	.	.	H	4743	ENSP00000380505:R4743H;ENSP00000416578:R4743H	ENSP00000380505:R4743H	R	-	2	0	NEB	152159056	0.995000	0.38212	0.983000	0.44433	0.972000	0.66771	3.186000	0.50942	1.488000	0.48433	0.460000	0.39030	CGT	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	44	0	C	NM_004543		152450810	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	21.21	52	14	SNP	0.999	T	T	152450810	C	T	152450810	1	4	185	0	1	0	0	0	0	0	0	0	10341	536	19	1		1	NEB	2	152450810	Intron	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	71919905	152450810	90748563	30	46144											
DPP4	1803	genome.wustl.edu	37	chr2	162873639	162873639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatcattcacgctgctgtGtagagtatagaggggcagac	10	12	12	7	1	2	3	2	0	0	3	2	3	2	3	0	2	1	5	0	2	4	6			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:162873639G>T	ENST00000360534.3	-	17	2007	c.1447C>A	c.(1447-1449)Cac>Aac	p.H483N	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	483					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ACGCTGCTGTGTAGAGTATAG	0.343																																																	0													66	66	66					2																	162873639		2203	4300	6503	SO:0001583	missense	0			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1447C>A	2.37:g.162873639G>T	ENSP00000353731:p.His483Asn		Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.H483N	ENST00000360534.3	37	c.1447	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837006	0.32421	.	.	ENSG00000197635	ENST00000360534	D	0.95885	-3.84	5.63	5.63	0.86233	.	0.273464	0.41097	D	0.000958	D	0.92280	0.7551	L	0.38649	1.16	0.40467	D	0.980304	B	0.27286	0.174	B	0.30716	0.119	D	0.89693	0.3899	10	0.48119	T	0.1	-23.5896	12.3698	0.55248	0.0768:0.0:0.9231:0.0	.	483	P27487	DPP4_HUMAN	N	483	ENSP00000353731:H483N	ENSP00000353731:H483N	H	-	1	0	DPP4	162581885	0.993000	0.37304	0.992000	0.48379	0.310000	0.27922	1.845000	0.39279	2.805000	0.96524	0.655000	0.94253	CAC	DPP4	-	NULL	ENSG00000197635		0.343	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	-	0	70	0	G			162873639	-1	tier1	-	no_errors	ENST00000360534	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	162873639	G	T	162873639	3	4	185	1	0	0	0	0	1	0	0	0	4743	1377	48	3	893	3	DPP4	2	162873639	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	10422829	162873639	80325734	31	46145											
LRP2	4036	genome.wustl.edu	37	chr2	170025142	170025142	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacatggtttttgcattCgaacatagtagcctggcagt	12	12	9	8	1	0	0	0	0	0	0	1	1	0	0	1	2	4	4	1	2	4	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:170025142C>A	ENST00000263816.3	-	61	11827	c.11542G>T	c.(11542-11544)Gaa>Taa	p.E3848*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3848	LDL-receptor class A 34. {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)"	TTTTTGCATTCGAACATAGTA	0.433																																																	0													102	91	95					2																	170025142		2203	4300	6503	SO:0001587	stop_gained	0				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.11542G>T	2.37:g.170025142C>A	ENSP00000263816:p.Glu3848*		O00711|Q16215	Nonsense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E3848*	ENST00000263816.3	37	c.11542	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	54	22.885718	0.99951	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.82	4.93	0.64822	.	0.095809	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	16.7063	0.85373	0.0:0.8704:0.1296:0.0	.	.	.	.	X	3848	.	ENSP00000263816:E3848X	E	-	1	0	LRP2	169733388	1.000000	0.71417	0.981000	0.43875	0.837000	0.47467	6.038000	0.70964	1.407000	0.46875	0.561000	0.74099	GAA	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	65	0	C	NM_004525		170025142	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	nonsense	17.46	52	11	SNP	1.000	A	A	170025142	C	A	170025142	4	1	185	1	0	0	0	0	0	1	0	0	8991	893	31	2	2501	2	LRP2	2	170025142	Nonsense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	7151503	170025142	73174231	32	46146											
NFE2L2	4780	genome.wustl.edu	37	chr2	178095854	178095854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaattaatgcaagttgagCttcattgaactgctctttgg	10	14	9	8	1	2	2	1	2	1	0	2	3	2	2	1	1	4	4	1	1	4	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:178095854C>T	ENST00000397062.3	-	5	2031	c.1477G>A	c.(1477-1479)Gct>Act	p.A493T	NFE2L2_ENST00000446151.2_Missense_Mutation_p.A470T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.A477T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.A477T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	493					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)			GCAAGTTGAGCTTCATTGAAC	0.388			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													174	153	159					2																	178095854		1849	4085	5934	SO:0001583	missense	0				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.1477G>A	2.37:g.178095854C>T	ENSP00000380252:p.Ala493Thr		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.A493T	ENST00000397062.3	37	c.1477	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942225	0.73672	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.95	5.95	0.96441	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.045517	0.85682	N	0.000000	D	0.95079	0.8406	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.94717	0.7897	10	0.72032	D	0.01	-14.5232	20.3748	0.98911	0.0:1.0:0.0:0.0	.	470;493	E9PGJ7;Q16236	.;NF2L2_HUMAN	T	477;493;470;221	ENSP00000380253:A477T;ENSP00000380252:A493T;ENSP00000411575:A470T;ENSP00000391590:A221T	ENSP00000380252:A493T	A	-	1	0	NFE2L2	177804100	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.847000	0.55895	2.817000	0.96982	0.563000	0.77884	GCT	NFE2L2	-	superfamily_TF_DNA-bd	ENSG00000116044		0.388	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0	27	0	C	NM_006164		178095854	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	T	T	178095854	C	T	178095854	3	4	185	1	0	0	0	0	1	0	0	0	10407	797	28	3	344	3	NFE2L2	2	178095854	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	8070712	178095854	65103519	33	46147											
TTN	7273	genome.wustl.edu	37	chr2	179469601	179469601	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttaatgtcagtaacagcaAgatttcttggtggggatggg	10	13	13	5	0	2	1	1	0	1	1	2	2	2	2	0	4	2	2	0	4	3	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:179469601A>C	ENST00000591111.1	-	231	49516	c.49292T>G	c.(49291-49293)cTt>cGt	p.L16431R	TTN_ENST00000359218.5_Missense_Mutation_p.L9132R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15504R|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L9007R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L18072R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9199R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16431	Fibronectin type-III 19. {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)			AGTAACAGCAAGATTTCTTGG	0.413																																																	0													118	109	112					2																	179469601		1897	4136	6033	SO:0001583	missense	0			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.49292T>G	2.37:g.179469601A>C	ENSP00000465570:p.Leu16431Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L15504R	ENST00000591111.1	37	c.46511		2	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311085	0.40895	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80798	0.4692	M	0.84082	2.675	0.48452	D	0.999659	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74023	0.982;0.982;0.982;0.982	D	0.83766	0.0217	9	0.87932	D	0	.	16.3426	0.83092	1.0:0.0:0.0:0.0	.	9007;9132;9199;16431	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	15504;9007;9199;9132;9007	ENSP00000343764:L15504R;ENSP00000434586:L9007R;ENSP00000340554:L9199R;ENSP00000352154:L9132R	ENSP00000340554:L9199R	L	-	2	0	TTN	179177846	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.390000	0.79816	2.317000	0.78254	0.460000	0.39030	CTT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	49	0	A	NM_133378		179469601	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	C	C	179469601	A	C	179469601	3	2	185	1	0	0	0	0	1	0	0	0	16784	72	3	4	53806	4	TTN	2	179469601	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	1373747	179469601	63729772	34	46148											
TTN	7273	genome.wustl.edu	37	chr2	179594880	179594880	+	Missense_Mutation	SNP	T	T	A	0	1	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	atcattgcttagttggcaaaTgtaggttccagaatcggtag	11	13	11	6	1	1	1	1	0	0	1	3	1	2	1	1	3	1	6	1	3	5	6	rs374012753		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:179594880T>A	ENST00000591111.1	-	60	17520	c.17296A>T	c.(17296-17298)Att>Ttt	p.I5766F	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I4839F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I6083F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12567	Ig-like 38.				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)			AGTTGGCAAATGTAGGTTCCA	0.473																																																	0													56	54	54					2																	179594880		1956	4148	6104	SO:0001583	missense	0			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.17296A>T	2.37:g.179594880T>A	ENSP00000465570:p.Ile5766Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I4839F	ENST00000591111.1	37	c.14515		2	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968833	0.34754	.	.	ENSG00000155657	ENST00000342992	T	0.41758	0.99	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38532	0.1044	N	0.21142	0.635	0.80722	D	1	P	0.42584	0.784	P	0.45167	0.472	T	0.36383	-0.9750	9	0.87932	D	0	.	16.07	0.80919	0.0:0.0:0.0:1.0	.	5766	Q8WZ42	TITIN_HUMAN	F	4839	ENSP00000343764:I4839F	ENSP00000343764:I4839F	I	-	1	0	TTN	179303125	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.622000	0.46427	2.254000	0.74563	0.533000	0.62120	ATT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	34	0	T	NM_133378		179594880	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	12.77	41	6	SNP	1.000	A	A	179594880	T	A	179594880	3	1	185	1	0	0	0	0	1	0	0	0	16784	1464	51	5	86486	5	TTN	2	179594880	Missense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	125279	179594880	63604493	35	46149											
SATB2	23314	genome.wustl.edu	37	chr2	200173631	200173631	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttttcccagagggtgcggTtttctgggcttgggttctcc	2	15	15	9	1	2	1	0	0	2	1	4	1	3	1	2	5	1	4	2	5	0	6			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:200173631T>G	ENST00000417098.1	-	10	2408	c.1592A>C	c.(1591-1593)aAc>aCc	p.N531T	SATB2_ENST00000443023.1_Missense_Mutation_p.N472T|SATB2_ENST00000260926.5_Missense_Mutation_p.N531T|SATB2_ENST00000428695.1_Missense_Mutation_p.N413T|SATB2_ENST00000457245.1_Missense_Mutation_p.N531T	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	531					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						GAGGGTGCGGTTTTCTGGGCT	0.557																																					Colon(30;262 767 11040 24421 36230)												0													105	87	93					2																	200173631		2203	4300	6503	SO:0001583	missense	0			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.1592A>C	2.37:g.200173631T>G	ENSP00000401112:p.Asn531Thr		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.N531T	ENST00000417098.1	37	c.1592	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	T	29.4	5.000262	0.93227	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.51325	0.71;0.72;0.71;0.75;0.71	5.21	5.21	0.72293	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.76494	0.995;0.999	D;D	0.91635	0.949;0.999	T	0.68557	-0.5377	10	0.87932	D	0	-23.9457	15.5441	0.76081	0.0:0.0:0.0:1.0	.	413;531	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	T	531;472;531;413;531	ENSP00000401112:N531T;ENSP00000388764:N472T;ENSP00000260926:N531T;ENSP00000388581:N413T;ENSP00000405420:N531T	ENSP00000260926:N531T	N	-	2	0	SATB2	199881876	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.825000	0.86693	2.317000	0.78254	0.459000	0.35465	AAC	SATB2	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000119042		0.557	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1		0	44	0	T	NM_015265		200173631	-1			no_errors	ENST00000260926	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	G	G	200173631	T	G	200173631	3	3	185	1	0	0	0	0	1	0	0	0	13899	1725	60	4	617	4	SATB2	2	200173631	Missense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	20578751	200173631	43025742	36	46150											
SPAG16	79582	genome.wustl.edu	37	chr2	214354802	214354802	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttttagactccatgaacTtccagtgagctggtaggatt	10	14	9	8	0	0	3	0	2	0	1	2	4	2	4	2	2	2	2	2	2	3	6			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:214354802T>C	ENST00000331683.5	+	10	1153	c.1058T>C	c.(1057-1059)cTt>cCt	p.L353P	SPAG16_ENST00000374309.3_Missense_Mutation_p.L259P	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	353					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTCCATGAACTTCCAGTGAGC	0.308																																																	0													55	60	58					2																	214354802		2202	4297	6499	SO:0001583	missense	0			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1058T>C	2.37:g.214354802T>C	ENSP00000332592:p.Leu353Pro		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L353P	ENST00000331683.5	37	c.1058	CCDS2396.1	2	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253979	0.59212	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.80994	-1.44;-1.44;-1.44	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.170003	0.37530	N	0.002045	D	0.85427	0.5694	L	0.48642	1.525	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;0.997;1.0	D;D;D;D	0.91635	0.999;0.961;0.953;0.999	D	0.84080	0.0384	10	0.34782	T	0.22	.	12.7704	0.57417	0.0:0.0:0.0:1.0	.	259;204;293;353	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	P	353;259;39	ENSP00000332592:L353P;ENSP00000363428:L259P;ENSP00000416600:L39P	ENSP00000332592:L353P	L	+	2	0	SPAG16	214063047	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.991000	0.56973	2.269000	0.75478	0.454000	0.30748	CTT	SPAG16	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000144451		0.308	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	-	0	53	0	T	NM_024532		214354802	1	tier1	-	no_errors	ENST00000331683	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	C	C	214354802	T	C	214354802	3	2	185	1	0	0	0	0	1	0	0	0	15025	1609	56	4	1112	4	SPAG16	2	214354802	Missense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	14181171	214354802	28844571	37	46151											
BARD1	580	genome.wustl.edu	37	chr2	215645798	215645798	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttccaaaacattcagattctGtcaaggagccacttgctagt	12	12	7	10	0	3	1	2	0	1	1	4	2	4	2	2	1	3	1	2	1	4	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:215645798G>T	ENST00000260947.4	-	4	934	c.800C>A	c.(799-801)aCa>aAa	p.T267K	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.T123K	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	267					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCAGATTCTGTCAAGGAGCC	0.413									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													62	65	64					2																	215645798		2203	4298	6501	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.800C>A	2.37:g.215645798G>T	ENSP00000260947:p.Thr267Lys		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.T267K	ENST00000260947.4	37	c.800	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478767	0.26511	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72167	-0.63;0.01	5.61	-0.925	0.10458	.	1.316910	0.04620	N	0.401877	T	0.63988	0.2558	M	0.65975	2.015	0.09310	N	1	B;B	0.18863	0.031;0.006	B;B	0.14023	0.01;0.004	T	0.27020	-1.0086	10	0.18276	T	0.48	2.7358	4.7673	0.13139	0.357:0.0:0.214:0.4291	.	123;267	E7EUI3;Q99728	.;BARD1_HUMAN	K	267;123	ENSP00000260947:T267K;ENSP00000406752:T123K	ENSP00000260947:T267K	T	-	2	0	BARD1	215354043	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.046000	0.14035	-0.405000	0.07599	-0.911000	0.02809	ACA	BARD1	-	NULL	ENSG00000138376		0.413	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	-	0	30	0	G	NM_000465		215645798	-1	tier1	-	no_errors	ENST00000260947	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.000	T	T	215645798	G	T	215645798	3	4	185	1	0	0	0	0	1	0	0	0	1313	1377	48	3	1565	3	BARD1	2	215645798	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	1290996	215645798	27553575	38	46152											
NR2C2	7182	genome.wustl.edu	37	chr3	15084383	15084383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggcactcaggctgatGagctccaacataacagaaga	13	6	10	12	1	1	4	1	2	0	2	2	4	2	4	2	2	4	3	2	2	3	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:15084383G>T	ENST00000425241.1	+	14	2021	c.1659G>T	c.(1657-1659)atG>atT	p.M553I	NR2C2_ENST00000406272.2_Missense_Mutation_p.M553I|NR2C2_ENST00000393102.3_Missense_Mutation_p.M553I|NR2C2_ENST00000323373.6_Missense_Mutation_p.M572I|MRPS25_ENST00000496484.1_5'UTR|NR2C2_ENST00000478572.1_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	553	Ligand-binding. {ECO:0000250}.				cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGGCTGATGAGCTCCAACA	0.468																																																	0													79	71	74					3																	15084383		2203	4300	6503	SO:0001583	missense	0			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1659G>T	3.37:g.15084383G>T	ENSP00000388387:p.Met553Ile		A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.M572I	ENST00000425241.1	37	c.1716		3	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692585	0.68271	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.76	5.76	0.90799	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	N	0.00980	-1.08	0.80722	D	1	B;D	0.54964	0.021;0.969	B;D	0.72338	0.033;0.977	T	0.37126	-0.9719	10	0.02654	T;T	1;1	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	553;572	P49116;F2YGU2	NR2C2_HUMAN;.	I	553;572;553;553	ENSP00000388387:M553I;ENSP00000320447:M572I;ENSP00000376814:M553I;ENSP00000384463:M553I	ENSP00000320447:M572I;ENSP00000320447:M572I	M	+	3	0	NR2C2	15059387	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.863000	0.99569	2.882000	0.98803	0.655000	0.94253	ATG	NR2C2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000177463		0.468	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1		0	74	0	G	NM_003298		15084383	1			no_errors	ENST00000323373	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	15084383	G	T	15084383	3	4	185	1	0	0	0	0	1	0	0	0	10662	1290	45	3	1770	3	NR2C2	3	15084383	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09		15084383	182938047	39	46153											
ZNF860	344787	genome.wustl.edu	37	chr3	32032151	32032151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaagcaacccttgcacGtcatcatagacttcatactg	13	10	5	13	1	4	1	4	0	0	1	4	1	4	1	1	0	5	2	1	0	5	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:32032151G>A	ENST00000360311.4	+	2	2129	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	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)			endometrium(3)|lung(4)|ovary(1)	8						ACCCTTGCACGTCATCATAGA	0.373																																																	0													38	34	35					3																	32032151		692	1591	2283	SO:0001583	missense	0			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1580G>A	3.37:g.32032151G>A	ENSP00000373274:p.Arg527His		B4DFA4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R527H	ENST00000360311.4	37	c.1580	CCDS46784.1	3	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.689263	0.00738	.	.	ENSG00000197385	ENST00000360311	T	0.26810	1.71	0.309	-0.618	0.11576	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18341	0.0440	M	0.71206	2.165	0.09310	N	1	P	0.49253	0.921	B	0.28305	0.088	T	0.08848	-1.0702	8	.	.	.	.	5.8662	0.18777	0.2612:0.0:0.7388:0.0	.	527	A6NHJ4	ZN860_HUMAN	H	527	ENSP00000373274:R527H	.	R	+	2	0	ZNF860	32007155	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.476000	0.00119	-1.259000	0.02468	-1.266000	0.01441	CGT	ZNF860	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197385		0.373	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF860	HGNC	protein_coding	OTTHUMT00000341957.1	-	0	94	0	G			32032151	1	tier1	-	no_errors	ENST00000360311	ensembl	human	known	74_37	missense	44.79	53	43	SNP	0.000	A	A	32032151	G	A	32032151	3	1	185	1	0	0	0	0	1	0	0	0	18242	1145	40	1	1582	1	ZNF860	3	32032151	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	16947768	32032151	165990279	40	46154											
TTC21A	199223	genome.wustl.edu	37	chr3	39170763	39170763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccaacatctacctgcaGaccctcagagacaggcgcct	11	6	9	15	1	2	2	1	0	1	2	2	3	2	2	4	2	3	1	4	2	2	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:39170763G>T	ENST00000431162.2	+	15	2252	c.2118G>T	c.(2116-2118)caG>caT	p.Q706H	TTC21A_ENST00000301819.6_Missense_Mutation_p.Q707H|TTC21A_ENST00000440121.1_Missense_Mutation_p.Q658H			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	706										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCTACCTGCAGACCCTCAGAG	0.527																																																	0													120	122	122					3																	39170763		2103	4245	6348	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2118G>T	3.37:g.39170763G>T	ENSP00000398211:p.Gln706His		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q707H	ENST00000431162.2	37	c.2121	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	9.099	1.003752	0.19199	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.61274	0.12;0.12;0.24	5.85	-2.5	0.06384	Tetratricopeptide-like helical (1);	0.650910	0.14581	N	0.310891	T	0.32496	0.0831	N	0.16368	0.405	0.22366	N	0.99916	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.13495	-1.0507	10	0.27785	T	0.31	-2.9311	6.3279	0.21255	0.1848:0.5676:0.1567:0.0909	.	658;707;706	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	H	707;689;706;658	ENSP00000301819:Q707H;ENSP00000398211:Q706H;ENSP00000410882:Q658H	ENSP00000301819:Q707H	Q	+	3	2	TTC21A	39145767	0.012000	0.17670	0.978000	0.43139	0.941000	0.58515	-0.448000	0.06820	-0.158000	0.11040	-0.126000	0.14955	CAG	TTC21A	-	NULL	ENSG00000168026		0.527	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	-	0	46	0	G	NM_145755		39170763	1	tier1	-	no_errors	ENST00000301819	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.455	T	T	39170763	G	T	39170763	3	4	185	1	0	0	0	0	1	0	0	0	16736	933	33	3	2179	3	TTC21A	3	39170763	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	7138612	39170763	158851667	41	46155											
KBTBD5	131377	genome.wustl.edu	37	chr3	42733464	42733464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccagtgcggctcaatgtGctgtgcctgactaagatgtg	8	11	12	10	1	1	2	1	1	0	1	1	2	1	2	2	1	4	2	2	1	3	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:42733464G>A	ENST00000287777.4	+	6	1945	c.1845G>A	c.(1843-1845)gtG>gtA	p.V615V		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	615					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											GGCTCAATGTGCTGTGCCTGA	0.582																																																	0													119	94	103					3																	42733464		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1845G>A	3.37:g.42733464G>A			Q86SI1|Q96MR2	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V615	ENST00000287777.4	37	c.1845	CCDS2703.1	3																																																																																			KLHL40	-	pirsf_Kelch-like_gigaxonin	ENSG00000157119		0.582	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL40	HGNC	protein_coding	OTTHUMT00000256651.1	-	0	59	0	G	NM_152393		42733464	1	tier1	-	no_errors	ENST00000287777	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	A	A	42733464	G	A	42733464	2	1	185	1	0	0	0	0	0	0	0	1	8023	1306	46	3		3	KBTBD5	3	42733464	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	3562701	42733464	155288966	42	46156											
UBA7	7318	genome.wustl.edu	37	chr3	49842835	49842835	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	cccgctgcccaggagcaggtGcctggcctgtcagctgctga	5	7	14	15	1	1	1	1	1	0	0	1	2	1	2	4	3	5	4	4	3	0	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:49842835G>T	ENST00000333486.3	-	24	3103	c.2945C>A	c.(2944-2946)gCa>gAa	p.A982E	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	982					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)		AGGAGCAGGTGCCTGGCCTGT	0.607																																																	0													109	93	98					3																	49842835		2203	4300	6503	SO:0001583	missense	0			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.2945C>A	3.37:g.49842835G>T	ENSP00000333266:p.Ala982Glu		Q9BRB2	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.A982E	ENST00000333486.3	37	c.2945	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	A	0.288	-0.981975	0.02197	.	.	ENSG00000182179	ENST00000333486	T	0.39787	1.06	5.24	-10.4	0.00318	Ubiquitin-activating enzyme e1, C-terminal (1);	1.489920	0.04364	N	0.357985	T	0.19167	0.0460	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07309	-1.0779	10	0.20519	T	0.43	1.5108	7.2639	0.26219	0.1366:0.0:0.3235:0.5399	.	982	P41226	UBA7_HUMAN	E	982	ENSP00000333266:A982E	ENSP00000333266:A982E	A	-	2	0	UBA7	49817839	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.063000	0.03465	-1.717000	0.01385	-1.534000	0.00916	GCA	UBA7	-	pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1	ENSG00000182179		0.607	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	HGNC	protein_coding	OTTHUMT00000350503.1	-	0	29	0	G	NM_003335		49842835	-1	tier1	-	no_errors	ENST00000333486	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	T	T	49842835	G	T	49842835	3	4	185	1	0	0	0	0	1	0	0	0	16882	1319	46	3	97	3	UBA7	3	49842835	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	7109371	49842835	148179595	43	46157											
TMEM115	11070	genome.wustl.edu	37	chr3	50396409	50396409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtagaggaatagtaccGccgcacacagagccttcacc	12	5	11	13	2	1	2	1	0	0	2	1	3	1	3	4	2	2	4	4	2	4	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:50396409G>T	ENST00000266025.3	-	1	632	c.86C>A	c.(85-87)gCg>gAg	p.A29E	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	29					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)		GAATAGTACCGCCGCACACAG	0.652																																																	0													27	25	26					3																	50396409		2194	4290	6484	SO:0001583	missense	0			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.86C>A	3.37:g.50396409G>T	ENSP00000266025:p.Ala29Glu		A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	pfam_DUF1751_Mem_euk	p.A29E	ENST00000266025.3	37	c.86	CCDS2828.1	3	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352451	0.24512	.	.	ENSG00000126062	ENST00000266025	T	0.13089	2.62	5.25	4.36	0.52297	.	0.376010	0.29410	N	0.012226	T	0.09730	0.0239	L	0.27053	0.805	0.09310	N	1	B	0.32160	0.358	B	0.29077	0.098	T	0.20739	-1.0266	10	0.62326	D	0.03	2.0334	9.4606	0.38783	0.1766:0.0:0.8234:0.0	.	29	Q12893	TM115_HUMAN	E	29	ENSP00000266025:A29E	ENSP00000266025:A29E	A	-	2	0	TMEM115	50371413	0.363000	0.24989	0.010000	0.14722	0.207000	0.24258	3.541000	0.53618	1.316000	0.45131	0.563000	0.77884	GCG	TMEM115	-	NULL	ENSG00000126062		0.652	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM115	HGNC	protein_coding	OTTHUMT00000102784.3	-	0	64	0	G	NM_007024		50396409	-1	tier1	-	no_errors	ENST00000266025	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.026	T	T	50396409	G	T	50396409	3	4	185	1	0	0	0	0	1	0	0	0	16076	1087	38	2	977	2	TMEM115	3	50396409	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	553574	50396409	147626021	44	46158											
CADPS	8618	genome.wustl.edu	37	chr3	62385092	62385092	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatggtctaatcgtcttCttcgtcttcctcatcgctgt	6	16	6	13	3	5	0	1	0	4	0	9	0	6	0	2	1	0	1	2	1	2	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:62385092C>A	ENST00000383710.4	-	30	4400	c.4051G>T	c.(4051-4053)Gaa>Taa	p.E1351*	CADPS_ENST00000357948.3_Nonsense_Mutation_p.E1272*|CADPS_ENST00000283269.9_Nonsense_Mutation_p.E1312*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1351	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)		TAATCGTCTTCTTCGTCTTCC	0.498																																																	0													199	176	184					3																	62385092		2203	4300	6503	SO:0001587	stop_gained	0			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.4051G>T	3.37:g.62385092C>A	ENSP00000373215:p.Glu1351*		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Nonsense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1351*	ENST00000383710.4	37	c.4051	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.935883|10.935883	0.99491|0.99491	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000473635	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.057703|.	0.64402|.	D|.	0.000002|.	.|T	.|0.76962	.|0.4061	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74219	.|-0.3736	.|4	0.54805|.	T|.	0.06|.	.|.	20.2019|20.2019	0.98263|0.98263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	1357;1351;1272;1312|342	.|.	ENSP00000283269:E1312X|.	E|K	-|-	1|3	0|2	CADPS|CADPS	62360132|62360132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.834000|0.834000	0.47266|0.47266	5.712000|5.712000	0.68407|0.68407	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	GAA|AAG	CADPS	-	NULL	ENSG00000163618		0.498	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	-	0	45	0	C	NM_003716, NM_183393, NM_183394		62385092	-1	tier1	-	no_errors	ENST00000383710	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	A	A	62385092	C	A	62385092	4	1	185	1	0	0	0	0	0	1	0	0	2577	922	32	3	14	3	CADPS	3	62385092	Nonsense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	11988683	62385092	135637338	45	46159											
KIAA1407	57577	genome.wustl.edu	37	chr3	113753830	113753830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatctccctccgcagcttcaCcatctccctttgaatctcct	6	14	3	18	1	4	1	1	1	3	0	8	1	5	1	5	0	1	2	5	0	2	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:113753830C>T	ENST00000295878.3	-	6	906	c.760G>A	c.(760-762)Gtg>Atg	p.V254M	KIAA1407_ENST00000545063.1_Missense_Mutation_p.V85M	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	254										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CGCAGCTTCACCATCTCCCTT	0.483																																																	0													218	210	213					3																	113753830		2203	4300	6503	SO:0001583	missense	0			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.760G>A	3.37:g.113753830C>T	ENSP00000295878:p.Val254Met		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.V254M	ENST00000295878.3	37	c.760	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238888	0.79800	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.60424	0.97;0.19;0.37	5.78	4.91	0.64330	.	0.199214	0.43416	D	0.000580	T	0.73760	0.3628	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.998	D;D;D	0.69824	0.966;0.943;0.966	T	0.76410	-0.2969	10	0.56958	D	0.05	.	14.6259	0.68621	0.0:0.9306:0.0:0.0694	.	241;130;254	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	M	254;85;241	ENSP00000295878:V254M;ENSP00000446381:V85M;ENSP00000418099:V241M	ENSP00000295878:V254M	V	-	1	0	KIAA1407	115236520	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.280000	0.43443	1.451000	0.47736	0.650000	0.86243	GTG	KIAA1407	-	NULL	ENSG00000163617		0.483	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	-	0	101	0	C	NM_020817		113753830	-1	tier1	-	no_errors	ENST00000295878	ensembl	human	known	74_37	missense	17.00	83	17	SNP	1.000	T	T	113753830	C	T	113753830	3	4	185	1	0	0	0	0	1	0	0	0	8256	507	18	3	2098	3	KIAA1407	3	113753830	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	51368738	113753830	84268600	46	46160											
FAM194A	131831	genome.wustl.edu	37	chr3	150421382	150421382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	agaggtcaggctagggctgaCgatgctggctaagcgggggc	8	6	19	8	2	1	2	1	1	0	1	1	3	1	2	0	6	2	4	0	6	2	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:150421382C>T	ENST00000295910.6	-	1	356	c.304G>A	c.(304-306)Gtc>Atc	p.V102I	RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTAGGGCTGACGATGCTGGCT	0.627																																																	0													112	98	103					3																	150421382		2203	4300	6503	SO:0001583	missense	0																														ENST00000295910.6:c.304G>A	3.37:g.150421382C>T	ENSP00000295910:p.Val102Ile			Missense_Mutation	SNP	NULL	p.V102I	ENST00000295910.6	37	c.304	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077531	0.76528	.	.	ENSG00000163645	ENST00000295910;ENST00000313811;ENST00000474463;ENST00000498386	T;T;T	0.52526	2.37;0.8;0.66	3.29	-0.882	0.10604	.	1.290790	0.05767	N	0.606097	T	0.29716	0.0742	L	0.29908	0.895	0.09310	N	0.999992	B	0.23490	0.086	B	0.12837	0.008	T	0.12811	-1.0533	10	0.21014	T	0.42	-0.0049	3.0654	0.06213	0.1921:0.4588:0.0:0.3491	.	102	Q7L0X2	F194A_HUMAN	I	102;60;76;62	ENSP00000295910:V102I;ENSP00000419304:V76I;ENSP00000417780:V62I	ENSP00000295910:V102I	V	-	1	0	FAM194A	151904072	0.000000	0.05858	0.032000	0.17829	0.621000	0.37620	-0.154000	0.10130	-0.199000	0.10317	0.561000	0.74099	GTC	FAM194A	-	NULL	ENSG00000163645		0.627	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1		0	46	0	C			150421382	-1			no_errors	ENST00000295910	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.036	T	T	150421382	C	T	150421382	3	4	185	1	0	0	0	0	1	0	0	0	5545	536	19	1	1743	1	FAM194A	3	150421382	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	36667552	150421382	47601048	47	46161											
RSRC1	51319	genome.wustl.edu	37	chr3	158261208	158261208	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacccagtactgaaaaaGaaatagatcctaccagcatc	17	7	5	12	0	0	3	0	1	0	2	3	3	2	3	4	0	3	2	4	0	6	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:158261208G>T	ENST00000295930.3	+	9	1006	c.844G>T	c.(844-846)Gaa>Taa	p.E282*	RSRC1_ENST00000475278.2_Intron|RSRC1_ENST00000464171.1_Nonsense_Mutation_p.E224*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.E224*|RSRC1_ENST00000480820.1_Nonsense_Mutation_p.E282*|RP11-538P18.2_ENST00000475981.1_RNA	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	282					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TACTGAAAAAGAAATAGATCC	0.423																																																	0													148	135	140					3																	158261208		2203	4300	6503	SO:0001587	stop_gained	0			AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 21"	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.844G>T	3.37:g.158261208G>T	ENSP00000295930:p.Glu282*		A8K2R9|Q96QK2|Q9NZE5	Nonsense_Mutation	SNP	NULL	p.E282*	ENST00000295930.3	37	c.844	CCDS3181.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.21|12.21	1.870173|1.870173	0.33069|0.33069	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000295930;ENST00000464171;ENST00000312179|ENST00000482822	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.319538|.	0.29565|.	N|.	0.011793|.	.|T	.|0.74215	.|0.3687	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73509	.|-0.3960	.|4	0.35671|.	T|.	0.21|.	.|.	18.311|18.311	0.90200|0.90200	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	282;282;224;224|175	.|.	ENSP00000295930:E282X|.	E|R	+|+	1|2	0|0	RSRC1|RSRC1	159743902|159743902	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.333000|0.333000	0.28666|0.28666	3.208000|3.208000	0.51114|0.51114	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	GAA|AGA	RSRC1	-	NULL	ENSG00000174891		0.423	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC1	HGNC	protein_coding	OTTHUMT00000352063.2	-	0	54	0	G	NM_016625		158261208	1	tier1	-	no_errors	ENST00000295930	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	1.000	T	T	158261208	G	T	158261208	4	4	185	1	0	0	0	0	0	1	0	0	13759	943	33	3	874	3	RSRC1	3	158261208	Nonsense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	7839826	158261208	39761222	48	46162											
GPR78	27201	genome.wustl.edu	37	chr4	8584357	8584357	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcatctgctttgccccGtatgtcatgaccaggtgggt	5	14	10	12	1	3	1	2	1	1	0	4	1	4	1	4	2	2	2	4	2	1	3	rs138639661	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:8584357G>A	ENST00000382487.4	+	2	1185	c.768G>A	c.(766-768)ccG>ccA	p.P256P	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	256					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P256P(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GCTTTGCCCCGTATGTCATGA	0.617													G|||	9	0.00179712	0.0061	0	5008	,	,		19435	0		0.001	False		,,,				2504	0																1	Substitution - coding silent(1)	prostate(1)						G		21,4385	29.9+/-59.1	0,21,2182	147	123	131		768	-4.7	0	4	dbSNP_134	131	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	GPR78	NM_080819.2		0,27,6476	AA,AG,GG		0.0698,0.4766,0.2076		256/364	8584357	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	0			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.768G>A	4.37:g.8584357G>A			Q8NGV3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P256	ENST00000382487.4	37	c.768	CCDS3403.1	4																																																																																			GPR78	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000155269		0.617	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	HGNC	protein_coding	OTTHUMT00000359201.1		0	30	0	G			8584357	1			no_errors	ENST00000382487	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.986	A	A	8584357	G	A	8584357	2	1	185	1	0	0	0	0	0	0	0	1	6736	1132	40	1		1	GPR78	4	8584357	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09		8584357	182569919	49	46163											
HS3ST1	9957	genome.wustl.edu	37	chr4	11400914	11400914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcgaagcattgatctgcGgcgacagctttaggaacctc	10	10	11	10	3	1	1	0	1	1	0	3	4	1	2	1	2	4	3	1	2	3	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:11400914G>T	ENST00000002596.5	-	2	1890	c.716C>A	c.(715-717)cCg>cAg	p.P239Q		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	239					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						ATTGATCTGCGGCGACAGCTT	0.562																																																	0													41	42	42					4																	11400914		2203	4300	6503	SO:0001583	missense	0			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.716C>A	4.37:g.11400914G>T	ENSP00000002596:p.Pro239Gln		B3KUA6|Q6PEY8	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P239Q	ENST00000002596.5	37	c.716	CCDS3408.1	4	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178237	0.78564	.	.	ENSG00000002587	ENST00000002596	D	0.82081	-1.57	5.41	5.41	0.78517	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91707	0.7378	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91470	0.5196	10	0.48119	T	0.1	.	18.549	0.91057	0.0:0.0:1.0:0.0	.	239	O14792	HS3S1_HUMAN	Q	239	ENSP00000002596:P239Q	ENSP00000002596:P239Q	P	-	2	0	HS3ST1	11010012	1.000000	0.71417	0.996000	0.52242	0.773000	0.43773	9.813000	0.99286	2.687000	0.91594	0.655000	0.94253	CCG	HS3ST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000002587		0.562	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	HGNC	protein_coding	OTTHUMT00000207073.3		0	36	0	G	NM_005114		11400914	-1			no_errors	ENST00000002596	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	11400914	G	T	11400914	3	4	185	1	0	0	0	0	1	0	0	0	7390	1116	39	2	211	2	HS3ST1	4	11400914	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	2816557	11400914	179753362	50	46164											
BOD1L	259282	genome.wustl.edu	37	chr4	13601004	13601004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcccagacgtctgttctggtCctctcaggtgggcaggtgag	5	10	15	11	1	3	2	1	1	3	1	5	2	4	2	2	4	0	2	2	4	0	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:13601004C>G	ENST00000040738.5	-	10	7655	c.7520G>C	c.(7519-7521)gGa>gCa	p.G2507A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2507						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTGTTCTGGTCCTCTCAGGTG	0.542											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67	56	60					4																	13601004		2203	4300	6503	SO:0001583	missense	0			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.7520G>C	4.37:g.13601004C>G	ENSP00000040738:p.Gly2507Ala	688	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.G2507A	ENST00000040738.5	37	c.7520	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	9.174	1.021961	0.19433	.	.	ENSG00000038219	ENST00000040738	T	0.06768	3.26	4.66	1.89	0.25635	.	0.710101	0.12564	N	0.457902	T	0.03783	0.0107	N	0.24115	0.695	0.09310	N	1	B	0.32918	0.39	B	0.27380	0.079	T	0.36553	-0.9743	10	0.06494	T	0.89	.	4.1389	0.10184	0.1662:0.5426:0.0:0.2912	.	2507	Q8NFC6	BOD1L_HUMAN	A	2507	ENSP00000040738:G2507A	ENSP00000040738:G2507A	G	-	2	0	BOD1L	13210102	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.538000	0.23160	0.499000	0.27970	0.555000	0.69702	GGA	BOD1L1	-	NULL	ENSG00000038219		0.542	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	34	0	C	NM_148894		13601004	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.000	G	G	13601004	C	G	13601004	3	3	185	1	0	0	0	0	1	0	0	0	1485	855	30	5	1703	5	BOD1L	4	13601004	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	2200090	13601004	177553272	51	46165											
RFC1	5981	genome.wustl.edu	37	chr4	39310612	39310612	+	Frame_Shift_Del	DEL	T	T	-																															tttttctttttccttggacaTttttttggggtgttctctcc																										TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:39310612delT	ENST00000381897.1	-	13	1662	c.1529delA	c.(1528-1530)aatfs	p.N510fs	RFC1_ENST00000349703.2_Frame_Shift_Del_p.N510fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	510					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCTTGGACATTTTTTTGGGG	0.353																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												0													62	66	65					4																	39310612		2203	4298	6501	SO:0001589	frameshift_variant	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1529delA	4.37:g.39310612delT	ENSP00000371321:p.Asn510fs		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Frame_Shift_Del	DEL	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.N510fs	ENST00000381897.1	37	c.1529	CCDS56329.1	4																																																																																			RFC1	-	superfamily_P-loop_NTPase,pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.353	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1		0	34	0	T	NM_002913		39310612	-1	tier1		no_errors	ENST00000381897	ensembl	human	known	74_37	frame_shift_del	7.69	36	3	DEL	0.089	-	-	39310612	T	-	39310612	7	5	185	1	0	1	0	1	0	0	0	0	13289	1493	52	0	1966	0	RFC1	4	39310612	Frame_Shift_Del	DEL	T	TCGA-ZR-A9CJ-01B-11D-A387-09	25709608	39310612	151843664	52	46166											
PAQR3	152559	genome.wustl.edu	37	chr4	79847847	79847847	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccaggatcatagcaagcactGtgatcaagtacacctgacgc	13	7	9	12	1	2	2	2	2	0	0	2	3	2	3	2	1	3	3	2	1	4	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:79847847G>T	ENST00000512733.1	-	4	743	c.530C>A	c.(529-531)aCa>aAa	p.T177K	PAQR3_ENST00000380645.4_Missense_Mutation_p.T177K|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_5'Flank	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	177					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						AGCAAGCACTGTGATCAAGTA	0.388																																																	0													164	156	159					4																	79847847		2203	4300	6503	SO:0001583	missense	0			AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.530C>A	4.37:g.79847847G>T	ENSP00000421981:p.Thr177Lys		A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	pfam_HlyIII-related	p.T177K	ENST00000512733.1	37	c.530	CCDS34020.1	4	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648654	0.47258	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.30448	1.53;1.53	5.97	4.96	0.65561	.	0.043489	0.85682	D	0.000000	T	0.42944	0.1225	M	0.71036	2.16	0.80722	D	1	B	0.20780	0.048	B	0.36504	0.226	T	0.41052	-0.9530	10	0.59425	D	0.04	-21.9416	16.0865	0.81056	0.0739:0.0:0.9261:0.0	.	177	Q6TCH7	PAQR3_HUMAN	K	177	ENSP00000421981:T177K;ENSP00000370019:T177K	ENSP00000344203:T177K	T	-	2	0	PAQR3	80066871	1.000000	0.71417	0.999000	0.59377	0.121000	0.20230	6.707000	0.74654	2.836000	0.97738	0.655000	0.94253	ACA	PAQR3	-	pfam_HlyIII-related	ENSG00000163291		0.388	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR3	HGNC	protein_coding	OTTHUMT00000363442.1		0	55	0	G	NM_177453		79847847	-1			no_errors	ENST00000511594	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.998	T	T	79847847	G	T	79847847	3	4	185	1	0	0	0	0	1	0	0	0	11475	1377	48	3	417	3	PAQR3	4	79847847	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	40537235	79847847	111306429	53	46167											
BMPR1B	658	genome.wustl.edu	37	chr4	96052397	96052397	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagatatcaaagggacaggGtcctggacccagttgtacct	11	8	12	10	0	1	1	1	0	0	1	2	3	2	3	3	3	1	3	3	3	3	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:96052397G>T	ENST00000515059.1	+	10	1093	c.810G>T	c.(808-810)ggG>ggT	p.G270G	BMPR1B_ENST00000264568.4_Silent_p.G270G|BMPR1B_ENST00000440890.2_Silent_p.G300G|BMPR1B_ENST00000394931.1_Silent_p.G270G	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.G270G(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AAGGGACAGGGTCCTGGACCC	0.373																																																	2	Substitution - coding silent(2)	upper_aerodigestive_tract(2)											75	64	68					4																	96052397		2203	4300	6503	SO:0001819	synonymous_variant	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.810G>T	4.37:g.96052397G>T			B2R953|B4DSV1|P78366	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.G300	ENST00000515059.1	37	c.900	CCDS3642.1	4																																																																																			BMPR1B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000138696		0.373	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	-	0	51	0	G	NM_001203		96052397	1	tier1	-	no_errors	ENST00000440890	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.996	T	T	96052397	G	T	96052397	2	4	185	1	0	0	0	0	0	0	0	1	1472	1248	44	3		3	BMPR1B	4	96052397	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	16204550	96052397	95101879	54	46168											
METAP1	23173	genome.wustl.edu	37	chr4	99960579	99960579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcagattaaattactctCatctgaagatatagaaggga	15	13	7	6	0	3	4	2	1	3	3	5	5	3	5	0	1	1	0	0	1	7	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:99960579C>T	ENST00000296411.6	+	5	529	c.395C>T	c.(394-396)tCa>tTa	p.S132L	METAP1_ENST00000544031.1_Missense_Mutation_p.S82L	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	132					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		AAATTACTCTCATCTGAAGAT	0.368																																																	0													144	135	138					4																	99960579		1817	4083	5900	SO:0001583	missense	0			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"Peptidase M"	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.395C>T	4.37:g.99960579C>T	ENSP00000296411:p.Ser132Leu		B4E2E6	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.S132L	ENST00000296411.6	37	c.395	CCDS47110.1	4	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680575	0.68042	.	.	ENSG00000164024	ENST00000296411;ENST00000544031	.	.	.	4.94	4.94	0.65067	Peptidase M24, structural domain (2);	0.194226	0.45867	D	0.000327	T	0.69115	0.3075	M	0.78344	2.41	0.58432	D	0.999995	B	0.24882	0.113	B	0.25405	0.06	T	0.66909	-0.5804	8	.	.	.	-14.657	18.3537	0.90348	0.0:1.0:0.0:0.0	.	132	P53582	AMPM1_HUMAN	L	132;82	.	.	S	+	2	0	METAP1	100179602	0.986000	0.35501	1.000000	0.80357	0.993000	0.82548	3.948000	0.56660	2.574000	0.86865	0.650000	0.86243	TCA	METAP1	-	superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1	ENSG00000164024		0.368	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1	HGNC	protein_coding	OTTHUMT00000364237.1	-	0	58	0	C	NM_015143		99960579	1	tier1	-	no_errors	ENST00000296411	ensembl	human	known	74_37	missense	29.41	36	15	SNP	1.000	T	T	99960579	C	T	99960579	3	4	185	1	0	0	0	0	1	0	0	0	9524	838	29	3	413	3	METAP1	4	99960579	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	3908182	99960579	91193697	55	46169											
NFKB1	4790	genome.wustl.edu	37	chr4	103451072	103451072	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagatggcactgccaacagGtaagaaaactcatccctgtt	14	8	8	11	0	1	2	1	0	0	2	2	2	2	2	2	2	3	3	2	2	4	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:103451072G>C	ENST00000505458.1	+	3	395		c.e3+1		NFKB1_ENST00000394820.4_Splice_Site|NFKB1_ENST00000226574.4_Splice_Site			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1						apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CTGCCAACAGGTAAGAAAACT	0.363																																																	0													49	50	50					4																	103451072		2203	4300	6503	SO:0001630	splice_region_variant	0			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.118+1G>C	4.37:g.103451072G>C			A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Splice_Site	SNP	-	e2+1	ENST00000505458.1	37	c.118+1	CCDS54783.1	4	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339959	0.60963	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000511926;ENST00000507079;ENST00000505458;ENST00000509165	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1129	0.65134	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFKB1	103670102	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.166000	0.58203	2.475000	0.83589	0.591000	0.81541	.	NFKB1	-	-	ENSG00000109320		0.363	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	-	0	79	0	G		Intron	103451072	1	tier1	-	no_errors	ENST00000226574	ensembl	human	known	74_37	splice_site	11.76	75	10	SNP	1.000	C	C	103451072	G	C	103451072	5	2	185	1	0	0	0	0	0	0	1	0	10414	1275	44	5	125	5	NFKB1	4	103451072	Splice_Site	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	3490493	103451072	87703204	56	46170											
QRFPR	84109	genome.wustl.edu	37	chr4	122258023	122258023	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccaccagccagaccacaCctgtaaaagtgttaaagtca	14	7	7	13	0	1	1	1	0	0	1	1	1	1	1	5	0	2	2	5	0	4	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:122258023C>A	ENST00000394427.2	-	3	911	c.500G>T	c.(499-501)gGt>gTt	p.G167V	QRFPR_ENST00000334383.5_Splice_Site_p.G167V	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	167					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						CCAGACCACACCTGTAAAAGT	0.433																																																	0													201	190	194					4																	122258023		2203	4300	6503	SO:0001630	splice_region_variant	0			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.500-1G>T	4.37:g.122258023C>A				Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.G167V	ENST00000394427.2	37	c.500	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	C	5.538	0.284209	0.10513	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.35421	1.31;1.31	5.21	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.046925	0.85682	D	0.000000	T	0.17577	0.0422	N	0.10945	0.07	0.80722	D	1	P;B	0.34546	0.456;0.121	B;B	0.31946	0.138;0.063	T	0.06499	-1.0823	10	0.05833	T	0.94	.	14.3371	0.66598	0.0:0.9279:0.0:0.0721	.	167;167	Q96P65;G4XH69	QRFPR_HUMAN;.	V	167	ENSP00000377948:G167V;ENSP00000335610:G167V	ENSP00000335610:G167V	G	-	2	0	QRFPR	122477473	0.998000	0.40836	0.999000	0.59377	0.933000	0.57130	3.968000	0.56809	1.313000	0.45069	0.585000	0.79938	GGT	QRFPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186867		0.433	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	HGNC	protein_coding	OTTHUMT00000256641.2	-	0	62	0	C	NM_198179	Missense_Mutation	122258023	-1	tier1	-	no_errors	ENST00000394427	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	A	A	122258023	C	A	122258023	5	1	185	1	0	0	0	0	0	0	1	0	12923	521	18	3	811	3	QRFPR	4	122258023	Splice_Site	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	18806951	122258023	68896253	57	46171											
FAT4	79633	genome.wustl.edu	37	chr4	126336053	126336053	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcaggcatcaactctcaaTtgacttatagcattgcttca	11	15	5	10	0	4	1	4	1	1	0	5	1	4	1	0	1	3	3	0	1	4	6			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:126336053T>C	ENST00000394329.3	+	5	5948	c.5935T>C	c.(5935-5937)Ttg>Ctg	p.L1979L	FAT4_ENST00000335110.5_Silent_p.L277L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1979	Cadherin 19. {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						CAACTCTCAATTGACTTATAG	0.373																																																	0													73	77	76					4																	126336053		2203	4300	6503	SO:0001819	synonymous_variant	0			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.5935T>C	4.37:g.126336053T>C			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L1979	ENST00000394329.3	37	c.5935	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	52	0	T	NM_024582		126336053	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	silent	14.06	55	9	SNP	0.837	C	C	126336053	T	C	126336053	2	2	185	1	0	0	0	0	0	0	0	1	5714	1490	52	4		4	FAT4	4	126336053	Silent	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	4078030	126336053	64818223	58	46172											
ACCN5	51802	genome.wustl.edu	37	chr4	156764860	156764860	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggatggttacccttgcGtgcattcccacaggtgacaa	8	10	12	11	2	0	1	0	1	0	0	1	2	1	2	2	4	3	2	2	4	2	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:156764860G>A	ENST00000537611.2	-	5	880	c.834C>T	c.(832-834)caC>caT	p.H278H		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	278					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										TTACCCTTGCGTGCATTCCCA	0.453																																																	0													162	134	144					4																	156764860		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.834C>T	4.37:g.156764860G>A				Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.H278	ENST00000537611.2	37	c.834	CCDS3793.1	4																																																																																			ASIC5	-	pfam_Na+channel_ASC	ENSG00000256394		0.453	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC5	HGNC	protein_coding	OTTHUMT00000366464.1	-	0	95	0	G			156764860	-1	tier1	-	no_errors	ENST00000537611	ensembl	human	known	74_37	silent	14.71	58	10	SNP	0.007	A	A	156764860	G	A	156764860	2	1	185	1	0	0	0	0	0	0	0	1	132	1136	40	1		1	ACCN5	4	156764860	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	30428807	156764860	34389416	59	46173											
SC4MOL	6307	genome.wustl.edu	37	chr4	166254571	166254571	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ttagttcagcatccttggctGtggaatatgtagattcactt	9	16	9	7	0	2	1	2	0	0	1	3	2	3	2	1	2	1	4	1	2	4	7			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:166254571G>T	ENST00000261507.6	+	2	222	c.49G>T	c.(49-51)Gtg>Ttg	p.V17L	MSMO1_ENST00000504317.1_Missense_Mutation_p.V17L|MSMO1_ENST00000393766.2_Intron	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	17					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										ATCCTTGGCTGTGGAATATGT	0.338																																																	0													78	77	77					4																	166254571		2203	4300	6503	SO:0001583	missense	0			U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"Fatty acid hydroxylase domain containing"	10545	protein-coding gene	gene with protein product		607545	"sterol-C4-methyl oxidase-like"	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.49G>T	4.37:g.166254571G>T	ENSP00000261507:p.Val17Leu		A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.V17L	ENST00000261507.6	37	c.49	CCDS3809.1	4	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149088	0.57151	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317;ENST00000505270	T;T;T	0.63096	-0.02;0.95;0.96	5.58	5.58	0.84498	.	0.056494	0.64402	D	0.000001	T	0.58949	0.2158	M	0.64997	1.995	0.80722	D	1	B;P	0.37441	0.083;0.595	B;B	0.34931	0.008;0.192	T	0.57974	-0.7718	10	0.10111	T	0.7	-1.1377	19.5644	0.95388	0.0:0.0:1.0:0.0	.	17;17	D6R952;Q15800	.;MSMO1_HUMAN	L	17	ENSP00000261507:V17L;ENSP00000425241:V17L;ENSP00000423633:V17L	ENSP00000261507:V17L	V	+	1	0	SC4MOL	166474021	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	9.869000	0.99810	2.633000	0.89246	0.561000	0.74099	GTG	MSMO1	-	NULL	ENSG00000052802		0.338	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSMO1	HGNC	protein_coding	OTTHUMT00000363880.1	-	0	77	0	G	NM_006745		166254571	1	tier1	-	no_errors	ENST00000261507	ensembl	human	known	74_37	missense	9.88	73	8	SNP	1.000	T	T	166254571	G	T	166254571	3	4	185	1	0	0	0	0	1	0	0	0	13910	1377	48	3	51	3	SC4MOL	4	166254571	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	9489711	166254571	24899705	60	46174											
TLL1	7092	genome.wustl.edu	37	chr4	166981258	166981258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaggagtaccctcctaataAgaactgtgtgtggcaagtgg	12	9	12	8	0	0	1	0	0	0	1	1	2	1	2	2	3	2	2	2	3	6	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:166981258A>G	ENST00000061240.2	+	15	2572	c.1925A>G	c.(1924-1926)aAg>aGg	p.K642R	TLL1_ENST00000507499.1_Missense_Mutation_p.K665R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	642	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)	p.K642T(1)		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)		CCTCCTAATAAGAACTGTGTG	0.428																																																	1	Substitution - Missense(1)	endometrium(1)											90	88	89					4																	166981258		2203	4300	6503	SO:0001583	missense	0			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.1925A>G	4.37:g.166981258A>G	ENSP00000061240:p.Lys642Arg		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.K642R	ENST00000061240.2	37	c.1925	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564174	0.86335	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.27720	1.65;1.65	5.98	5.98	0.97165	CUB (5);	0.000000	0.85682	U	0.000000	T	0.53738	0.1815	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.49986	-0.8880	10	0.41790	T	0.15	.	16.4578	0.84025	1.0:0.0:0.0:0.0	.	665;642	E9PD25;O43897	.;TLL1_HUMAN	R	642;665	ENSP00000061240:K642R;ENSP00000426082:K665R	ENSP00000061240:K642R	K	+	2	0	TLL1	167200708	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	9.235000	0.95353	2.288000	0.76882	0.482000	0.46254	AAG	TLL1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom	ENSG00000038295		0.428	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0	50	0	A			166981258	1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	G	G	166981258	A	G	166981258	3	3	185	1	0	0	0	0	1	0	0	0	15992	72	3	4	1983	4	TLL1	4	166981258	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	726687	166981258	24173018	61	46175											
MARCH11	441061	genome.wustl.edu	37	chr5	16091158	16091158	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attacagcaatcatctgaacTttctcaaccagtgttataga	14	13	5	9	0	3	2	2	1	2	1	4	2	3	2	1	0	4	2	1	0	6	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:16091158T>G	ENST00000332432.8	-	3	925	c.726A>C	c.(724-726)aaA>aaC	p.K242N	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	242					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TCATCTGAACTTTCTCAACCA	0.408																																																	0													53	53	53					5																	16091158		1891	4102	5993	SO:0001583	missense	0			BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.726A>C	5.37:g.16091158T>G	ENSP00000333181:p.Lys242Asn		A7E2S6	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.K242N	ENST00000332432.8	37	c.726	CCDS47192.1	5	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262399	0.80358	.	.	ENSG00000183654	ENST00000332432	T	0.55760	0.5	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.66093	-0.6009	10	0.87932	D	0	-12.1026	15.6674	0.77242	0.0:0.0:0.0:1.0	.	242	A6NNE9	MARHB_HUMAN	N	242	ENSP00000333181:K242N	ENSP00000333181:K242N	K	-	3	2	MARCH11	16144158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.581000	0.60949	2.116000	0.64780	0.533000	0.62120	AAA	MARCH11	-	NULL	ENSG00000183654		0.408	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MARCH11	HGNC	protein_coding	OTTHUMT00000366096.2	-	0	78	0	T	NM_001102562		16091158	-1	tier1	-	no_errors	ENST00000332432	ensembl	human	known	74_37	missense	26.97	64	24	SNP	1.000	G	G	16091158	T	G	16091158	3	3	185	1	0	0	0	0	1	0	0	0	9338	1606	56	4	490	4	MARCH11	5	16091158	Missense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09		16091158	164824102	62	46176											
PRDM9	56979	genome.wustl.edu	37	chr5	23527721	23527721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagtgtgggcggggctttCgcaataagtcacacctcctc	7	9	14	11	2	1	0	1	0	0	0	4	1	2	1	2	4	0	2	2	4	2	2	rs201643800		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:23527721C>T	ENST00000296682.3	+	11	2706	c.2524C>T	c.(2524-2526)Cgc>Tgc	p.R842C		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								A	CYS/ARG	1,4363		0,1,2181	64	74	71		2524	1.5	0	5		71	1,8589		0,1,4294	no	missense	PRDM9	NM_020227.2	180	0,2,6475	TT,TC,CC		0.0116,0.0229,0.0154	possibly-damaging	842/895	23527721	2,12952	2182	4295	6477	SO:0001583	missense	0			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>T	5.37:g.23527721C>T	ENSP00000296682:p.Arg842Cys		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R842C	ENST00000296682.3	37	c.2524	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555271	0.45487	2.29E-4	1.16E-4	ENSG00000164256	ENST00000296682	T	0.08282	3.11	2.67	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	N	0.25286	0.73	0.09310	N	1	B	0.19583	0.037	B	0.20184	0.028	T	0.42982	-0.9419	9	0.59425	D	0.04	0.1175	0.5976	0.00739	0.4516:0.2128:0.1287:0.207	.	842	Q9NQV7	PRDM9_HUMAN	C	842	ENSP00000296682:R842C	ENSP00000296682:R842C	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	PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	102	0	C	NM_020227		23527721	1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	22.96	102	31	SNP	0.053	T	T	23527721	C	T	23527721	3	4	185	1	0	0	0	0	1	0	0	0	12505	884	31	1	2562	1	PRDM9	5	23527721	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	7436563	23527721	157387539	63	46177											
ZFR	51663	genome.wustl.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	1	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	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	5	10	13	13	0	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2	rs139769264		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																																	1	Substitution - coding silent(1)	endometrium(1)						A		0,4406		0,0,2203	35	36	36		882	-7.9	1	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T			B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.A294	ENST00000265069.8	37	c.882	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC	ZFR	-	NULL	ENSG00000056097		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1		0	37	0	A			32407029	-1			no_errors	ENST00000265069	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.601	T	T	32407029	A	T	32407029	2	4	185	1	0	0	0	0	0	0	0	1	17707	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	8879308	32407029	148508231	64	46178											
HEATR7B2	133558	genome.wustl.edu	37	chr5	40999877	40999877	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagaatttcctggtttttcTtggcctagaagagatgtgaa	11	14	10	6	0	1	4	0	1	1	3	2	5	2	4	2	2	0	1	2	2	4	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:40999877T>G	ENST00000399564.4	-	40	4937	c.4487A>C	c.(4486-4488)aAg>aCg	p.K1496T	MROH2B_ENST00000506092.2_Missense_Mutation_p.K1051T	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1496																	CTGGTTTTTCTTGGCCTAGAA	0.473																																																	0													172	173	173					5																	40999877		1875	4112	5987	SO:0001583	missense	0				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.4487A>C	5.37:g.40999877T>G	ENSP00000382476:p.Lys1496Thr		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K1496T	ENST00000399564.4	37	c.4487	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477794	0.63849	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66099	-0.19;-0.19	4.95	2.54	0.30619	Armadillo-like helical (1);Armadillo-type fold (1);	0.120229	0.37715	N	0.001978	T	0.62282	0.2415	L	0.51422	1.61	0.34651	D	0.721696	D	0.60575	0.988	P	0.58721	0.844	T	0.64605	-0.6368	10	0.15499	T	0.54	.	6.5398	0.22375	0.0:0.1912:0.0:0.8088	.	1496	Q7Z745	HTRB2_HUMAN	T	1051;1201;1496	ENSP00000441504:K1051T;ENSP00000382476:K1496T	ENSP00000296803:K1201T	K	-	2	0	HEATR7B2	41035634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.495000	0.35627	0.366000	0.24427	0.533000	0.62120	AAG	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.473	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0	65	0	T	NM_173489		40999877	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	28.00	54	21	SNP	1.000	G	G	40999877	T	G	40999877	3	3	185	1	0	0	0	0	1	0	0	0	7062	1609	56	4	282	4	HEATR7B2	5	40999877	Missense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	8592848	40999877	139915383	65	46179											
HCN1	348980	genome.wustl.edu	37	chr5	45267297	45267297	+	Missense_Mutation	SNP	A	A	C	1	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	acggaaagtgagtaaagacgAcaatatgtatcagctcgaac	17	7	10	7	3	1	2	1	1	0	1	2	5	1	3	0	1	2	3	0	1	7	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:45267297A>C	ENST00000303230.4	-	7	1734	c.1677T>G	c.(1675-1677)tgT>tgG	p.C559W		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	559					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						AGTAAAGACGACAATATGTAT	0.428																																																	0													160	145	150					5																	45267297		2203	4300	6503	SO:0001583	missense	0			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.1677T>G	5.37:g.45267297A>C	ENSP00000307342:p.Cys559Trp			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.C559W	ENST00000303230.4	37	c.1677	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667153	0.67814	.	.	ENSG00000164588	ENST00000303230	D	0.97352	-4.35	5.91	-5.92	0.02261	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000001	D	0.98820	0.9602	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97730	1.0202	10	0.87932	D	0	.	18.1478	0.89663	0.3204:0.0:0.6796:0.0	.	559	O60741	HCN1_HUMAN	W	559	ENSP00000307342:C559W	ENSP00000307342:C559W	C	-	3	2	HCN1	45303054	0.470000	0.25854	0.906000	0.35671	0.760000	0.43138	-0.239000	0.08965	-0.984000	0.03507	-0.982000	0.02568	TGT	HCN1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000164588		0.428	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	73	0	A	NM_021072		45267297	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	25.56	67	23	SNP	0.959	C	C	45267297	A	C	45267297	3	2	185	1	0	0	0	0	1	0	0	0	7023	273	10	4	1003	4	HCN1	5	45267297	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	4267420	45267297	135647963	66	46180											
PDE4D	5144	genome.wustl.edu	37	chr5	58882168	58882168	+	Intron	SNP	G	G	T	0	0	1	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	tactcaccatatccaggaatGccttctaaagggaaaattat	15	11	6	9	0	2	0	1	0	1	0	3	2	3	2	3	2	2	0	3	2	8	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:58882168G>T	ENST00000340635.6	-	1	631				PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000360047.5_Missense_Mutation_p.H12N|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000507116.1_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	ATCCAGGAATGCCTTCTAAAG	0.353																																																	0													254	250	251					5																	58882168		1865	4103	5968	SO:0001627	intron_variant	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.455+306826C>A	5.37:g.58882168G>T			O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.H12N	ENST00000340635.6	37	c.34	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246607	0.22796	.	.	ENSG00000113448	ENST00000360047	T	0.63913	-0.07	5.64	5.64	0.86602	.	.	.	.	.	T	0.71953	0.3401	.	.	.	0.80722	D	1	P	0.39044	0.656	P	0.48627	0.584	T	0.70382	-0.4887	8	0.51188	T	0.08	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	11	Q08499-2	.	N	12	ENSP00000353152:H12N	ENSP00000353152:H12N	H	-	1	0	PDE4D	58917925	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.138000	0.77305	2.937000	0.99478	0.650000	0.86243	CAT	PDE4D	-	NULL	ENSG00000113448		0.353	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	-	0	73	0	G			58882168	-1	tier1	-	no_errors	ENST00000360047	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	58882168	G	T	58882168	1	4	185	0	1	0	0	0	0	0	0	0	11681	1319	46	3		3	PDE4D	5	58882168	Intron	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	13614871	58882168	122033092	67	46181											
SLC27A6	28965	genome.wustl.edu	37	chr5	128363000	128363000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacaatttcctttatttttGggaccgtactggagacactt	9	15	9	8	1	0	1	0	0	0	1	1	4	1	3	2	3	1	1	2	3	3	7			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:128363000G>T	ENST00000262462.4	+	7	2440	c.1430G>T	c.(1429-1431)tGg>tTg	p.W477L	SLC27A6_ENST00000506176.1_Missense_Mutation_p.W477L|SLC27A6_ENST00000395266.1_Missense_Mutation_p.W477L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	477					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTTTATTTTTGGGACCGTACT	0.368																																																	0													119	110	113					5																	128363000		2203	4300	6503	SO:0001583	missense	0			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1430G>T	5.37:g.128363000G>T	ENSP00000262462:p.Trp477Leu		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.W477L	ENST00000262462.4	37	c.1430	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111151	0.37242	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.35048	1.33;1.33;1.33	4.31	3.44	0.39384	AMP-dependent synthetase/ligase (1);	0.450566	0.24165	N	0.040952	T	0.18509	0.0444	N	0.08118	0	0.38946	D	0.958245	B	0.06786	0.001	B	0.06405	0.002	T	0.07121	-1.0789	9	.	.	.	-4.0439	13.2051	0.59790	0.0786:0.0:0.9213:0.0	.	477	Q9Y2P4	S27A6_HUMAN	L	477	ENSP00000262462:W477L;ENSP00000378684:W477L;ENSP00000421024:W477L	.	W	+	2	0	SLC27A6	128390899	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.844000	0.39269	1.417000	0.47077	0.460000	0.39030	TGG	SLC27A6	-	pfam_AMP-dep_Synth/Lig	ENSG00000113396		0.368	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1	-	0	38	0	G	NM_014031		128363000	1	tier1	-	no_errors	ENST00000262462	ensembl	human	known	74_37	missense	40.00	24	16	SNP	1.000	T	T	128363000	G	T	128363000	3	4	185	1	0	0	0	0	1	0	0	0	14575	1357	47	3	1456	3	SLC27A6	5	128363000	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	69480832	128363000	52552260	68	46182											
C1QTNF2	114898	genome.wustl.edu	37	chr5	159776421	159776421	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgatggccaggtgcttgttGgccagcgtgatgtcgtaggt	5	11	16	9	3	0	1	0	1	0	0	1	2	0	1	3	4	2	3	3	4	1	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:159776421G>A	ENST00000393975.3	-	3	750	c.747C>T	c.(745-747)gcC>gcT	p.A249A		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	204	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGCTTGTTGGCCAGCGTGA	0.592																																																	0													82	82	82					5																	159776421		2203	4300	6503	SO:0001819	synonymous_variant	0			AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.747C>T	5.37:g.159776421G>A				Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.A249	ENST00000393975.3	37	c.747	CCDS4351.2	5																																																																																			C1QTNF2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000145861		0.592	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF2	HGNC	protein_coding	OTTHUMT00000252672.2	-	0	41	0	G			159776421	-1	tier1	-	no_errors	ENST00000393975	ensembl	human	known	74_37	silent	17.39	19	4	SNP	1.000	A	A	159776421	G	A	159776421	2	1	185	1	0	0	0	0	0	0	0	1	1970	1335	47	3		3	C1QTNF2	5	159776421	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	31413421	159776421	21138839	69	46183											
AGXT2L2	85007	genome.wustl.edu	37	chr5	177658468	177658468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcatcgtacatgtactgcCcttgggcccggacaatctta	8	12	9	12	2	2	0	1	0	1	0	3	1	2	1	2	2	3	3	2	2	4	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:177658468C>T	ENST00000308158.5	-	2	350	c.116G>A	c.(115-117)gGg>gAg	p.G39E	PHYKPL_ENST00000476170.2_Missense_Mutation_p.G39E|PHYKPL_ENST00000481811.1_5'Flank	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	39						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CATGTACTGCCCTTGGGCCCG	0.552																																																	0													223	184	197					5																	177658468		2203	4300	6503	SO:0001583	missense	0			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.116G>A	5.37:g.177658468C>T	ENSP00000310978:p.Gly39Glu		A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.G39E	ENST00000308158.5	37	c.116	CCDS4434.1	5	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973776	0.92919	.	.	ENSG00000175309	ENST00000308158;ENST00000476170	T;T	0.52526	0.66;0.66	4.77	4.77	0.60923	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	H	0.99545	4.62	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.88000	0.2755	10	0.40728	T	0.16	-4.6061	15.6631	0.77203	0.0:1.0:0.0:0.0	.	39	Q8IUZ5	AT2L2_HUMAN	E	39	ENSP00000310978:G39E;ENSP00000421810:G39E	ENSP00000310978:G39E	G	-	2	0	AGXT2L2	177591074	1.000000	0.71417	0.922000	0.36590	0.740000	0.42216	5.972000	0.70448	2.355000	0.79922	0.655000	0.94253	GGG	PHYKPL	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	ENSG00000175309		0.552	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYKPL	HGNC	protein_coding	OTTHUMT00000253477.1	-	0	42	0	C	NM_032921		177658468	-1	tier1	-	no_errors	ENST00000308158	ensembl	human	known	74_37	missense	38.89	33	21	SNP	1.000	T	T	177658468	C	T	177658468	3	4	185	1	0	0	0	0	1	0	0	0	407	623	22	3	1280	3	AGXT2L2	5	177658468	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	17882047	177658468	3256792	70	46184											
GNB2L1	10399	genome.wustl.edu	37	chr5	180664622	180664622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttacctggccatcagcaGaccaggccagggaggtgcac	10	5	12	14	0	1	1	1	0	0	1	1	2	1	2	4	4	3	2	4	4	1	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:180664622G>T	ENST00000512805.1	-	7	1283	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	GNB2L1_ENST00000376817.4_Missense_Mutation_p.S248Y|GNB2L1_ENST00000504726.1_Missense_Mutation_p.S61Y|GNB2L1_ENST00000511900.1_Missense_Mutation_p.S244Y|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000514455.1_Missense_Mutation_p.S76Y	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	292					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GCCATCAGCAGACCAGGCCAG	0.478																																																	0													135	120	125					5																	180664622		2203	4300	6503	SO:0001583	missense	0			M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"WD repeat domain containing"	4399	protein-coding gene	gene with protein product	"Receptor for Activated C Kinase 1"	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.875C>A	5.37:g.180664622G>T	ENSP00000426909:p.Ser292Tyr		B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S292Y	ENST00000512805.1	37	c.875	CCDS34324.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.117172|4.117172	0.77323|0.77323	.|.	.|.	ENSG00000204628|ENSG00000204628	ENST00000507756|ENST00000514455;ENST00000376817;ENST00000512805;ENST00000504726;ENST00000511900;ENST00000512968	.|T;T;T;T;T;D	.|0.84516	.|-0.21;-0.21;-0.21;-0.6;-0.21;-1.86	5.8|5.8	4.92|4.92	0.64577|0.64577	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95085|0.95085	0.8408|0.8408	H|H	0.97390|0.97390	3.995|3.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.984;1.0;1.0;1.0	.|P;D;D;D	.|0.97110	.|0.875;1.0;0.998;1.0	D|D	0.96539|0.96539	0.9399|0.9399	5|10	.|0.87932	.|D	.|0	-2.4368|-2.4368	14.4598|14.4598	0.67440|0.67440	0.0:0.1483:0.8517:0.0|0.0:0.1483:0.8517:0.0	.|.	.|310;292;244;292	.|D6REE5;E9KL35;D6RAC2;P63244	.|.;.;.;GBLP_HUMAN	M|Y	223|76;248;292;61;244;310	.|ENSP00000426708:S76Y;ENSP00000366013:S248Y;ENSP00000426909:S292Y;ENSP00000426046:S61Y;ENSP00000422768:S244Y;ENSP00000425008:S310Y	.|ENSP00000366013:S248Y	L|S	-|-	1|2	2|0	GNB2L1|GNB2L1	180597228|180597228	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.664000|7.664000	0.83830|0.83830	1.426000|1.426000	0.47256|0.47256	0.655000|0.655000	0.94253|0.94253	CTG|TCT	GNB2L1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000204628		0.478	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	GNB2L1	HGNC	protein_coding	OTTHUMT00000372943.2		0	31	0	G	NM_006098		180664622	-1			no_errors	ENST00000512805	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	180664622	G	T	180664622	3	4	185	1	0	0	0	0	1	0	0	0	6544	942	33	3	86	3	GNB2L1	5	180664622	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	3006154	180664622	250638	71	46185											
HUS1B	135458	genome.wustl.edu	37	chr6	656472	656472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcgtcctccagcgcggcaggCggatgctcgcgtcggaggcg	4	5	18	14	8	0	0	0	0	0	0	4	2	2	2	2	5	2	2	2	5	0	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:656472C>T	ENST00000380907.2	-	1	491	c.473G>A	c.(472-474)cGc>cAc	p.R158H	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	158					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCGCGGCAGGCGGATGCTCGC	0.687																																																	0													58	63	61					6																	656472		2197	4285	6482	SO:0001583	missense	0			AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"HUS1 (S. pombe) checkpoint homolog b"			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.473G>A	6.37:g.656472C>T	ENSP00000370293:p.Arg158His		Q5T4Z2	Missense_Mutation	SNP	pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1	p.R158H	ENST00000380907.2	37	c.473	CCDS4470.1	6	.	.	.	.	.	.	.	.	.	.	C	9.212	1.031269	0.19590	.	.	ENSG00000188996	ENST00000380907	T	0.11930	2.73	3.44	-2.58	0.06228	.	0.301070	0.27109	N	0.020894	T	0.00784	0.0026	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41088	-0.9528	10	0.15952	T	0.53	.	7.6602	0.28398	0.0:0.4675:0.0:0.5325	.	158	Q8NHY5	HUS1B_HUMAN	H	158	ENSP00000370293:R158H	ENSP00000370293:R158H	R	-	2	0	HUS1B	601472	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.237000	0.17985	-0.613000	0.05694	-0.414000	0.06135	CGC	HUS1B	-	pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1	ENSG00000188996		0.687	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUS1B	HGNC	protein_coding	OTTHUMT00000205617.2	-	0	41	0	C	NM_148959		656472	-1	tier1	-	no_errors	ENST00000380907	ensembl	human	known	74_37	missense	31.58	38	18	SNP	0.000	T	T	656472	C	T	656472	3	4	185	1	0	0	0	0	1	0	0	0	7487	768	27	1	367	1	HUS1B	6	656472	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09		656472	170458595	72	46186											
HIST1H1B	3009	genome.wustl.edu	37	chr6	27835245	27835245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttcttagttgccttcttCttagccggggatttctccac	4	16	8	13	1	4	0	0	0	4	0	5	1	4	1	4	2	2	1	4	2	2	7			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:27835245C>T	ENST00000331442.3	-	1	114	c.63G>A	c.(61-63)aaG>aaA	p.K21K		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	21					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						TTGCCTTCTTCTTAGCCGGGG	0.592																																																	0													25	30	28					6																	27835245		2196	4282	6478	SO:0001819	synonymous_variant	0			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.63G>A	6.37:g.27835245C>T			Q14529|Q3MJ42	Silent	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K21	ENST00000331442.3	37	c.63	CCDS4635.1	6																																																																																			HIST1H1B	-	NULL	ENSG00000184357		0.592	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	-	0	89	0	C	NM_005322		27835245	-1	tier1	-	no_errors	ENST00000331442	ensembl	human	known	74_37	silent	36.89	65	38	SNP	1.000	T	T	27835245	C	T	27835245	2	4	185	1	0	0	0	0	0	0	0	1	7150	912	32	3		3	HIST1H1B	6	27835245	Silent	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	27178773	27835245	143279822	73	46187											
NKAPL	222698	genome.wustl.edu	37	chr6	28227923	28227923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtaaagactcagaagaGgacttgtcagaagctacctg	14	8	11	8	0	2	4	2	0	0	4	2	5	2	5	1	1	3	3	1	1	5	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:28227923G>T	ENST00000343684.3	+	1	826	c.774G>T	c.(772-774)gaG>gaT	p.E258D	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	258										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						ACTCAGAAGAGGACTTGTCAG	0.373																																																	0													38	40	39					6																	28227923		2203	4300	6503	SO:0001583	missense	0			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.774G>T	6.37:g.28227923G>T	ENSP00000345716:p.Glu258Asp		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.E258D	ENST00000343684.3	37	c.774	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330536	0.10956	.	.	ENSG00000189134	ENST00000343684	T	0.14266	2.52	4.43	-0.826	0.10805	.	0.322809	0.31323	N	0.007845	T	0.01976	0.0062	N	0.20483	0.58	0.25439	N	0.988118	P	0.42827	0.791	B	0.35859	0.212	T	0.50448	-0.8827	10	0.25106	T	0.35	-6.0795	8.9198	0.35604	0.5759:0.0:0.4241:0.0	.	258	Q5M9Q1	NKAPL_HUMAN	D	258	ENSP00000345716:E258D	ENSP00000345716:E258D	E	+	3	2	NKAPL	28335902	0.961000	0.32948	0.492000	0.27490	0.186000	0.23388	0.149000	0.16243	-0.164000	0.10927	-0.140000	0.14226	GAG	NKAPL	-	NULL	ENSG00000189134		0.373	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	-	0	32	0	G			28227923	1	tier1	-	no_errors	ENST00000343684	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.991	T	T	28227923	G	T	28227923	3	4	185	1	0	0	0	0	1	0	0	0	10479	991	35	3	776	3	NKAPL	6	28227923	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	392678	28227923	142887144	74	46188											
CUL9	23113	genome.wustl.edu	37	chr6	43190586	43190589	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															acatggatgtggtggagcagCagacagagaacctggagctg																								rs371313602		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	CAGA	CAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:43190586_43190589delCAGA	ENST00000252050.4	+	38	7186_7189	c.7102_7105delCAGA	c.(7102-7107)cagacafs	p.QT2368fs	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Frame_Shift_Del_p.QT2340fs|CUL9_ENST00000354495.3_Frame_Shift_Del_p.QT2258fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2368					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						GGTGGAGCAGCAGACAGAGAACCT	0.637																																																	0																																										SO:0001589	frameshift_variant	0			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.7102_7105delCAGA	6.37:g.43190590_43190593delCAGA	ENSP00000252050:p.Gln2368fs		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Frame_Shift_Del	DEL	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.T2369fs	ENST00000252050.4	37	c.7102_7105	CCDS4890.1	6																																																																																			CUL9	-	NULL	ENSG00000112659		0.637	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2		0	57	0	CAGA	NM_015089		43190589	1			no_errors	ENST00000252050	ensembl	human	known	74_37	frame_shift_del	8.33	66	6	DEL	1.000:1.000:1.000:1.000	0	-	43190589	CAGA	-	43190586	7	5	185	1	0	1	0	1	0	0	0	0	4070	711	25	0	7248	0	CUL9	6	43190586	Frame_Shift_Del	DEL	CAGA	TCGA-ZR-A9CJ-01B-11D-A387-09	14962663	43190586	127924481	75	46189											
TCTE1	202500	genome.wustl.edu	37	chr6	44255379	44255379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctcagcaatgatccggcGcatccgacggatattggccc	9	8	10	14	4	1	1	1	1	0	0	4	3	4	2	4	3	1	2	4	3	2	2	rs200189669		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:44255379G>A	ENST00000371505.4	-	2	306	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	TCTE1_ENST00000371504.1_5'Flank|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	62										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGATCCGGCGCATCCGACGG	0.547													G|||	1	0.000199681	0	0	5008	,	,		21435	0		0.001	False		,,,				2504	0																0													152	126	135					6																	44255379		2203	4300	6503	SO:0001583	missense	0			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.184C>T	6.37:g.44255379G>A	ENSP00000360560:p.Arg62Cys		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R62C	ENST00000371505.4	37	c.184	CCDS4910.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.6	4.169399	0.78452	.	.	ENSG00000146221	ENST00000371505	T	0.45276	0.9	5.49	5.49	0.81192	.	0.051998	0.85682	D	0.000000	T	0.64494	0.2603	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.69680	-0.5080	10	0.87932	D	0	-49.0514	19.3731	0.94498	0.0:0.0:1.0:0.0	.	62	Q5JU00	TCTE1_HUMAN	C	62	ENSP00000360560:R62C	ENSP00000360560:R62C	R	-	1	0	TCTE1	44363357	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	4.179000	0.58290	2.585000	0.87301	0.404000	0.27445	CGC	TCTE1	-	NULL	ENSG00000146221		0.547	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1		0	46	0	G	NM_182539		44255379	-1			no_errors	ENST00000371505	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	A	A	44255379	G	A	44255379	3	1	185	1	0	0	0	0	1	0	0	0	15764	1087	38	1	1337	1	TCTE1	6	44255379	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	1064793	44255379	126859688	76	46190											
TFAP2B	7021	genome.wustl.edu	37	chr6	50807971	50807971	+	Missense_Mutation	SNP	G	G	T	0	0	1	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	ccggcagcacacagacccgaGtgacctgcactcccgaaaga	12	3	10	16	3	0	3	0	1	0	2	1	5	1	3	4	1	2	3	4	1	1	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:50807971G>T	ENST00000393655.3	+	6	1212	c.1043G>T	c.(1042-1044)aGt>aTt	p.S348I	TFAP2B_ENST00000263046.4_Missense_Mutation_p.S357I	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	348					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)					ACAGACCCGAGTGACCTGCAC	0.527																																					Pancreas(116;1373 2332 5475 10752)												0													103	105	104					6																	50807971		2203	4300	6503	SO:0001583	missense	0			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.1043G>T	6.37:g.50807971G>T	ENSP00000377265:p.Ser348Ile		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.S357I	ENST00000393655.3	37	c.1070	CCDS4934.2	6	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606575	0.46527	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96885	-4.16;-4.16	5.67	5.67	0.87782	Transcription factor AP-2, C-terminal (1);	0.227898	0.52532	D	0.000078	D	0.93194	0.7832	L	0.50333	1.59	0.42790	D	0.993899	B	0.19817	0.039	B	0.30855	0.121	D	0.90869	0.4744	10	0.56958	D	0.05	-12.0128	14.6352	0.68682	0.0:0.266:0.734:0.0	.	348	Q92481	AP2B_HUMAN	I	348;357	ENSP00000377265:S348I;ENSP00000263046:S357I	ENSP00000263046:S357I	S	+	2	0	TFAP2B	50915930	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.196000	0.58407	2.692000	0.91855	0.655000	0.94253	AGT	TFAP2B	-	pfam_TF_AP2_C	ENSG00000008196		0.527	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	-	0	29	0	G	NM_003221		50807971	1	tier1	-	no_errors	ENST00000263046	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	50807971	G	T	50807971	3	4	185	1	0	0	0	0	1	0	0	0	15835	1029	36	3	1065	3	TFAP2B	6	50807971	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	6552592	50807971	120307096	77	46191											
TTK	7272	genome.wustl.edu	37	chr6	80745072	80745072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaaaatccattgatcCatgggaacgcaagagttact	18	8	8	7	1	0	3	0	1	0	2	2	4	2	4	2	1	2	2	2	1	7	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:80745072C>A	ENST00000369798.2	+	16	1973	c.1862C>A	c.(1861-1863)cCa>cAa	p.P621Q	TTK_ENST00000509894.1_Missense_Mutation_p.P620Q|TTK_ENST00000230510.3_Missense_Mutation_p.P620Q	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	621	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TCCATTGATCCATGGGAACGC	0.328																																																	0													104	101	102					6																	80745072		2203	4299	6502	SO:0001583	missense	0				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.1862C>A	6.37:g.80745072C>A	ENSP00000358813:p.Pro621Gln		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P621Q	ENST00000369798.2	37	c.1862	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968899	0.74131	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.73897	-0.79;-0.79;-0.79	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.278178	0.41500	D	0.000868	T	0.75369	0.3840	L	0.44542	1.39	0.80722	D	1	P;D	0.57257	0.91;0.979	P;P	0.59487	0.791;0.858	T	0.73892	-0.3839	10	0.39692	T	0.17	.	18.3737	0.90428	0.0:1.0:0.0:0.0	.	621;620	P33981;A8K8U5	TTK_HUMAN;.	Q	620;620;621	ENSP00000422936:P620Q;ENSP00000230510:P620Q;ENSP00000358813:P621Q	ENSP00000230510:P620Q	P	+	2	0	TTK	80801791	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.700000	0.68318	2.582000	0.87167	0.460000	0.39030	CCA	TTK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000112742		0.328	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	-	0	79	0	C			80745072	1	tier1	-	no_errors	ENST00000369798	ensembl	human	known	74_37	missense	11.11	88	11	SNP	1.000	A	A	80745072	C	A	80745072	3	1	185	1	0	0	0	0	1	0	0	0	16769	594	21	3	1920	3	TTK	6	80745072	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	29937101	80745072	90369995	78	46192											
STXBP5	134957	genome.wustl.edu	37	chr6	147704078	147704078	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaacttggcgatctggaaGaaagaactgcggccatgtta	14	8	12	7	2	1	3	0	0	1	3	1	5	1	4	1	3	3	1	1	3	5	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:147704078G>C	ENST00000321680.6	+	27	3358	c.3358G>C	c.(3358-3360)Gaa>Caa	p.E1120Q	STXBP5_ENST00000367481.3_Missense_Mutation_p.E1084Q|STXBP5_ENST00000367480.3_Missense_Mutation_p.E1067Q|STXBP5_ENST00000179882.6_Missense_Mutation_p.E775Q	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1120	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				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)		CGATCTGGAAGAAAGAACTGC	0.448																																																	0													103	103	103					6																	147704078		2203	4300	6503	SO:0001583	missense	0			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.3358G>C	6.37:g.147704078G>C	ENSP00000321826:p.Glu1120Gln		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.E1120Q	ENST00000321680.6	37	c.3358	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857769	0.91433	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.16897	2.4;2.31;2.5;2.98	5.25	5.25	0.73442	Synaptobrevin (1);	0.047953	0.85682	D	0.000000	T	0.30479	0.0766	M	0.82630	2.6	0.80722	D	1	D;P;P	0.53619	0.961;0.948;0.948	P;P;P	0.52159	0.691;0.576;0.652	T	0.19484	-1.0304	10	0.72032	D	0.01	.	19.1971	0.93693	0.0:0.0:1.0:0.0	.	1084;1120;775	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	Q	1084;1120;1067;775	ENSP00000356451:E1084Q;ENSP00000321826:E1120Q;ENSP00000356450:E1067Q;ENSP00000179882:E775Q	ENSP00000179882:E775Q	E	+	1	0	STXBP5	147745771	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	9.810000	0.99221	2.617000	0.88574	0.460000	0.39030	GAA	STXBP5	-	pfscan_Synaptobrevin	ENSG00000164506		0.448	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	-	0	48	0	G			147704078	1	tier1	-	no_errors	ENST00000321680	ensembl	human	known	74_37	missense	35.11	61	33	SNP	1.000	C	C	147704078	G	C	147704078	3	2	185	1	0	0	0	0	1	0	0	0	15403	943	33	5	3464	5	STXBP5	6	147704078	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	66959006	147704078	23410989	79	46193											
STXBP5	134957	genome.wustl.edu	37	chr6	147704132	147704132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattttctaaacatgctcatGaggtacgactctcaaacaga	14	11	6	10	1	3	2	2	1	2	1	4	3	3	2	0	1	4	2	0	1	4	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:147704132G>A	ENST00000321680.6	+	27	3412	c.3412G>A	c.(3412-3414)Gag>Aag	p.E1138K	STXBP5_ENST00000367481.3_Missense_Mutation_p.E1102K|STXBP5_ENST00000367480.3_Missense_Mutation_p.E1085K|STXBP5_ENST00000179882.6_Missense_Mutation_p.E793K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1138	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				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)		ACATGCTCATGAGGTACGACT	0.393																																																	0													60	62	61					6																	147704132		2203	4300	6503	SO:0001583	missense	0			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.3412G>A	6.37:g.147704132G>A	ENSP00000321826:p.Glu1138Lys		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.E1138K	ENST00000321680.6	37	c.3412	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187367	0.57909	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.12984	2.67;2.63;2.78;3.24	5.31	5.31	0.75309	Synaptobrevin (1);	0.099426	0.64402	D	0.000002	T	0.09335	0.0230	L	0.41236	1.265	0.80722	D	1	P;P;P	0.47762	0.873;0.9;0.9	B;B;B	0.43331	0.291;0.416;0.416	T	0.12116	-1.0560	10	0.31617	T	0.26	.	19.3423	0.94349	0.0:0.0:1.0:0.0	.	1102;1138;793	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	K	1102;1138;1085;793	ENSP00000356451:E1102K;ENSP00000321826:E1138K;ENSP00000356450:E1085K;ENSP00000179882:E793K	ENSP00000179882:E793K	E	+	1	0	STXBP5	147745825	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	9.810000	0.99221	2.652000	0.90054	0.460000	0.39030	GAG	STXBP5	-	pfscan_Synaptobrevin	ENSG00000164506		0.393	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	-	0	46	0	G			147704132	1	tier1	-	no_errors	ENST00000321680	ensembl	human	known	74_37	missense	39.06	39	25	SNP	1.000	A	A	147704132	G	A	147704132	3	1	185	1	0	0	0	0	1	0	0	0	15403	1291	45	3	3518	3	STXBP5	6	147704132	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	54	147704132	23410935	80	46194											
FTSJ2	8379	genome.wustl.edu	37	chr7	2275007	2275007	+	5'Flank	SNP	T	T	A	0	1	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	tgagcctgtcatgatcgaggTcccggaaccctgtggcattg	7	10	13	11	2	1	2	1	2	0	0	3	4	2	3	3	3	2	1	3	3	1	1	rs374150448		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:2275007T>A	ENST00000406869.1	-	0	0				MAD1L1_ENST00000402746.1_5'Flank|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.D70V|FTSJ2_ENST00000242257.8_Missense_Mutation_p.D164V|MAD1L1_ENST00000399654.2_5'Flank|MAD1L1_ENST00000265854.7_5'Flank|FTSJ2_ENST00000486040.1_5'UTR			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ATGATCGAGGTCCCGGAACCC	0.577																																																	0													88	81	83					7																	2275007		2203	4300	6503	SO:0001631	upstream_gene_variant	0			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2275007T>A	Exception_encountered		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	p.D164V	ENST00000406869.1	37	c.491	CCDS43539.1	7	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105619	0.37145	.	.	ENSG00000122687	ENST00000242257;ENST00000407040	T;T	0.32753	1.44;1.44	5.23	-7.32	0.01436	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.889011	0.09707	N	0.766242	T	0.25457	0.0619	L	0.41961	1.31	0.09310	N	0.999993	B	0.25609	0.13	B	0.38378	0.272	T	0.47235	-0.9133	10	0.40728	T	0.16	15.7668	7.3807	0.26854	0.0:0.206:0.4451:0.3489	.	164	Q9UI43	RRMJ2_HUMAN	V	164;70	ENSP00000242257:D164V;ENSP00000384423:D70V	ENSP00000242257:D164V	D	-	2	0	FTSJ2	2241533	0.361000	0.24972	0.000000	0.03702	0.847000	0.48162	1.115000	0.31209	-1.721000	0.01378	0.533000	0.62120	GAC	FTSJ2	-	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	ENSG00000122687		0.577	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FTSJ2	HGNC	protein_coding	OTTHUMT00000322871.1	-	0	54	0	T	NM_003550		2275007	-1	tier1	-	no_errors	ENST00000242257	ensembl	human	known	74_37	missense	12.07	51	7	SNP	0.009	A	A	2275007	T	A	2275007	1	1	185	0	1	0	0	0	0	0	0	0	6112	1667	58	5		5	FTSJ2	7	2275007	5'Flank	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09		2275007	156863656	81	46195											
C7orf27	221927	genome.wustl.edu	37	chr7	2581844	2581844	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgggtcctcagtgcctgtgGactggagacaaacgcgaggt	8	8	15	10	2	1	1	1	0	0	1	2	4	2	2	2	4	2	0	2	4	1	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:2581844G>T	ENST00000340611.4	-	7	1181	c.925C>A	c.(925-927)Cca>Aca	p.P309T	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	309					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						AGTGCCTGTGGACTGGAGACA	0.652																																																	0													34	29	31					7																	2581844		2168	4266	6434	SO:0001630	splice_region_variant	0			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.924-1C>A	7.37:g.2581844G>T			A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.P309T	ENST00000340611.4	37	c.925	CCDS5334.1	7	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912009	0.52439	.	.	ENSG00000106009	ENST00000340611	D	0.93076	-3.16	5.57	5.57	0.84162	Armadillo-type fold (1);	0.114005	0.64402	D	0.000017	D	0.96393	0.8823	M	0.72118	2.19	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.96592	0.9438	10	0.72032	D	0.01	-22.6951	17.7032	0.88301	0.0:0.0:1.0:0.0	.	309	Q6PJG6	BRAT1_HUMAN	T	309	ENSP00000339637:P309T	ENSP00000339637:P309T	P	-	1	0	BRAT1	2548370	1.000000	0.71417	0.943000	0.38184	0.024000	0.10985	5.779000	0.68948	2.627000	0.88993	0.561000	0.74099	CCA	BRAT1	-	superfamily_ARM-type_fold	ENSG00000106009		0.652	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAT1	HGNC	protein_coding	OTTHUMT00000239305.2	-	0	47	0	G	NM_152743	Missense_Mutation	2581844	-1	tier1	-	no_errors	ENST00000340611	ensembl	human	known	74_37	missense	8.47	54	5	SNP	0.999	T	T	2581844	G	T	2581844	5	4	185	1	0	0	0	0	0	0	1	0	2389	1188	41	3	1572	3	C7orf27	7	2581844	Splice_Site	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	306837	2581844	156556819	82	46196											
SP8	221833	genome.wustl.edu	37	chr7	20824506	20824506	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcgacggggccgagtcCgggtaggagccgggtagcac	7	3	20	11	6	0	0	0	0	0	0	1	3	1	1	3	6	3	3	3	6	2	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:20824506C>T	ENST00000361443.4	-	3	1113	c.876G>A	c.(874-876)ccG>ccA	p.P292P	SP8_ENST00000418710.2_Silent_p.P310P	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	292					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						GGGCCGAGTCCGGGTAGGAGC	0.751																																																	0													2	2	2					7																	20824506		1343	2823	4166	SO:0001819	synonymous_variant	0				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.876G>A	7.37:g.20824506C>T			Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1	p.P310	ENST00000361443.4	37	c.930	CCDS5372.1	7																																																																																			SP8	-	NULL	ENSG00000164651		0.751	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP8	HGNC	protein_coding	OTTHUMT00000326904.2		0	8	0	C			20824506	-1			no_errors	ENST00000418710	ensembl	human	known	74_37	silent	66.67	3	6	SNP	0.992	T	T	20824506	C	T	20824506	2	4	185	1	0	0	0	0	0	0	0	1	15015	639	23	1		1	SP8	7	20824506	Silent	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	18242662	20824506	138314157	83	46197											
TXNDC3	51314	genome.wustl.edu	37	chr7	37924817	37924817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaacaattactgggaccaAgaactgttgaagaagccatt	16	8	10	7	0	0	3	0	1	0	2	0	5	0	5	2	2	4	1	2	2	7	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:37924817A>G	ENST00000199447.4	+	14	1582	c.1210A>G	c.(1210-1212)Aga>Gga	p.R404G	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R404G	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	404	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										ACTGGGACCAAGAACTGTTGA	0.383																																																	0													90	81	84					7																	37924817		2203	4300	6503	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1210A>G	7.37:g.37924817A>G	ENSP00000199447:p.Arg404Gly		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.R404G	ENST00000199447.4	37	c.1210	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	A	4.507	0.094001	0.08632	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.54675	0.56;0.56	3.69	3.69	0.42338	.	1.583150	0.03545	N	0.224498	T	0.33469	0.0864	N	0.03608	-0.345	0.19300	N	0.999973	B	0.02656	0.0	B	0.06405	0.002	T	0.12293	-1.0553	10	0.29301	T	0.29	-0.3598	10.7015	0.45931	1.0:0.0:0.0:0.0	.	404	Q8N427	TXND3_HUMAN	G	404	ENSP00000199447:R404G;ENSP00000397063:R404G	ENSP00000199447:R404G	R	+	1	2	TXNDC3	37891342	0.976000	0.34144	0.753000	0.31225	0.043000	0.13939	2.542000	0.45744	1.905000	0.55150	0.460000	0.39030	AGA	NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase	ENSG00000086288		0.383	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0	64	0	A	NM_016616		37924817	1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	missense	28.09	64	25	SNP	0.898	G	G	37924817	A	G	37924817	3	3	185	1	0	0	0	0	1	0	0	0	16847	64	3	4	1256	4	TXNDC3	7	37924817	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	17100311	37924817	121213846	84	46198											
HECW1	23072	genome.wustl.edu	37	chr7	43447182	43447182	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccaagccatggggttgaAgaaagggatgtttttcaacc	11	12	11	7	0	1	2	1	1	0	1	2	3	2	3	3	3	2	2	3	3	4	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:43447182A>T	ENST00000395891.2	+	8	1258	c.653A>T	c.(652-654)aAg>aTg	p.K218M	HECW1_ENST00000453890.1_Missense_Mutation_p.K218M|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	218	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATGGGGTTGAAGAAAGGGATG	0.433																																																	0													43	40	41					7																	43447182		1840	4097	5937	SO:0001583	missense	0			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.653A>T	7.37:g.43447182A>T	ENSP00000379228:p.Lys218Met		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.K218M	ENST00000395891.2	37	c.653	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740935	0.89573	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.70516	-0.49;-0.49	5.35	5.35	0.76521	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.101754	0.64402	D	0.000002	D	0.83622	0.5294	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85914	0.1442	10	0.87932	D	0	.	15.3221	0.74129	1.0:0.0:0.0:0.0	.	218;250;218	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	M	218;218;217	ENSP00000379228:K218M;ENSP00000407774:K218M	ENSP00000265522:K217M	K	+	2	0	HECW1	43413707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.855000	0.92236	2.013000	0.59113	0.460000	0.39030	AAG	HECW1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000002746		0.433	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	-	0	57	0	A	NM_015052		43447182	1	tier1	-	no_errors	ENST00000395891	ensembl	human	known	74_37	missense	43.08	37	28	SNP	1.000	T	T	43447182	A	T	43447182	3	4	185	1	0	0	0	0	1	0	0	0	7069	72	3	5	675	5	HECW1	7	43447182	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	5522365	43447182	115691481	85	46199											
POM121	9883	genome.wustl.edu	37	chr7	72414028	72414028	+	Missense_Mutation	SNP	A	A	G	1	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	caccgtttgccttcaacgtgAgcagcacaactgagagcaaa	13	7	9	12	2	1	2	1	2	0	1	1	3	1	2	2	0	6	4	2	0	3	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:72414028A>G	ENST00000434423.2	+	11	3496	c.3496A>G	c.(3496-3498)Agc>Ggc	p.S1166G	POM121_ENST00000395270.1_Missense_Mutation_p.S901G|POM121_ENST00000358357.3_Missense_Mutation_p.S901G|POM121_ENST00000446813.1_Missense_Mutation_p.S901G|POM121_ENST00000257622.4_Missense_Mutation_p.S901G			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1166	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)				CTTCAACGTGAGCAGCACAAC	0.622																																																	0													51	51	51					7																	72414028		2203	4299	6502	SO:0001583	missense	0			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.3496A>G	7.37:g.72414028A>G	ENSP00000405562:p.Ser1166Gly		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.S1166G	ENST00000434423.2	37	c.3496		7	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.225295	0.01530	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05258	3.48;3.47;3.48;3.47;3.71	3.01	0.978	0.19740	.	0.632230	0.12989	N	0.422657	T	0.01558	0.0050	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46735	-0.9170	10	0.09338	T	0.73	.	4.0332	0.09717	0.3363:0.3441:0.3196:0.0	.	901;1166	A8MXF9;Q96HA1	.;P121A_HUMAN	G	901;901;901;901;1166	ENSP00000393020:S901G;ENSP00000257622:S901G;ENSP00000378687:S901G;ENSP00000351124:S901G;ENSP00000405562:S1166G	ENSP00000257622:S901G	S	+	1	0	POM121	72051964	0.054000	0.20591	0.044000	0.18714	0.041000	0.13682	0.107000	0.15375	-0.174000	0.10743	-0.538000	0.04264	AGC	POM121	-	NULL	ENSG00000196313		0.622	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1		0	40	0	A			72414028	1			no_errors	ENST00000434423	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.072	G	G	72414028	A	G	72414028	3	3	185	1	0	0	0	0	1	0	0	0	12278	304	11	4	2739	4	POM121	7	72414028	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	28966846	72414028	86724635	86	46200											
ABCB1	5243	genome.wustl.edu	37	chr7	87178743	87178743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catccagcaggaggatcttgGggttgcgaaccagggcacgt	9	7	15	10	2	1	0	0	0	1	0	2	3	2	2	2	5	3	3	2	5	1	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:87178743G>T	ENST00000265724.3	-	15	2063	c.1646C>A	c.(1645-1647)cCc>cAc	p.P549H	ABCB1_ENST00000543898.1_Missense_Mutation_p.P485H	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	549	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.P549H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GAGGATCTTGGGGTTGCGAAC	0.557																																																	1	Substitution - Missense(1)	lung(1)											129	107	115					7																	87178743		2203	4300	6503	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1646C>A	7.37:g.87178743G>T	ENSP00000265724:p.Pro549His		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.P549H	ENST00000265724.3	37	c.1646	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922397	0.92319	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.85171	-1.95;-1.95	5.8	5.8	0.92144	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94897	0.8053	10	0.87932	D	0	-15.5605	20.051	0.97627	0.0:0.0:1.0:0.0	.	485;549	B5AK60;P08183	.;MDR1_HUMAN	H	330;549;485	ENSP00000265724:P549H;ENSP00000444095:P485H	ENSP00000265724:P549H	P	-	2	0	ABCB1	87016679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.842000	0.99487	2.740000	0.93945	0.650000	0.86243	CCC	ABCB1	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000085563		0.557	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2		0	78	0	G	NM_000927		87178743	-1			no_errors	ENST00000265724	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	87178743	G	T	87178743	3	4	185	1	0	0	0	0	1	0	0	0	40	1232	43	3	2256	3	ABCB1	7	87178743	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	14764715	87178743	71959920	87	46201											
GNGT1	2792	genome.wustl.edu	37	chr7	93540126	93540126	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaatgttgtgaagaagtaAgagattacgttgaagaacga	17	9	11	4	2	0	5	0	2	0	3	0	7	0	5	1	0	2	3	1	0	7	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:93540126A>C	ENST00000248572.5	+	3	269	c.121A>C	c.(121-123)Aga>Cga	p.R41R	GNGT1_ENST00000455502.1_3'UTR|GNGT1_ENST00000429473.1_Silent_p.R41R	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	41					cardiac muscle cell apoptotic process (GO:0010659)|cellular response to hypoxia (GO:0071456)|eye photoreceptor cell development (GO:0042462)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TGAAGAAGTAAGAGATTACGT	0.418																																																	0													95	95	95					7																	93540126		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5633.1	7q21.3	2008-07-18			ENSG00000127928	ENSG00000127928			4411	protein-coding gene	gene with protein product		189970				8661128	Standard	NM_021955		Approved	GNG1	uc003unc.1	P63211	OTTHUMG00000022908	ENST00000248572.5:c.121A>C	7.37:g.93540126A>C			A4D1H2|O43835|Q08447|Q16026|Q6LCP6	Silent	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	p.R41	ENST00000248572.5	37	c.121	CCDS5633.1	7																																																																																			GNGT1	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	ENSG00000127928		0.418	GNGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNGT1	HGNC	protein_coding	OTTHUMT00000254718.2	-	0	40	0	A	NM_021955		93540126	1	tier1	-	no_errors	ENST00000248572	ensembl	human	known	74_37	silent	23.08	30	9	SNP	0.458	C	C	93540126	A	C	93540126	2	2	185	1	0	0	0	0	0	0	0	1	6559	64	3	4		4	GNGT1	7	93540126	Silent	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	6361383	93540126	65598537	88	46202											
CNPY4	245812	genome.wustl.edu	37	chr7	99722420	99722422	+	In_Frame_Del	DEL	AGG	AGG	-																															aacagaaggggaggaagagcAggaggaggaggaggaagagg																								rs373606882|rs141457365	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:99722420_99722422delAGG	ENST00000262932.3	+	6	788_790	c.656_658delAGG	c.(655-660)caggag>cag	p.E229del	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	229	Glu-rich.					extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					gaggaagagcaggaggaggagga	0.493																																																	0																																										SO:0001651	inframe_deletion	0			AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.656_658delAGG	7.37:g.99722429_99722431delAGG	ENSP00000262932:p.Glu229del		Q8WUN9	In_Frame_Del	DEL	pfam_DUF3456	p.E223in_frame_del	ENST00000262932.3	37	c.656_658	CCDS34701.1	7																																																																																			CNPY4	-	NULL	ENSG00000166997		0.493	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY4	HGNC	protein_coding	OTTHUMT00000337224.4		0	38	0	AGG	NM_152755		99722422	1	tier1		no_errors	ENST00000262932	ensembl	human	known	74_37	in_frame_del	10.26	35	4	DEL	0.045:0.040:0.133	-	-	99722422	AGG	-	99722420	7	5	185	1	0	1	0	1	0	0	0	0	3637	188	7	0	678	0	CNPY4	7	99722420	In_Frame_Del	DEL	AGG	TCGA-ZR-A9CJ-01B-11D-A387-09	6182294	99722420	59416243	89	46203											
ZNF800	168850	genome.wustl.edu	37	chr7	127026124	127026124	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattcatacctgatcgaaaGcactcaattatttgttgaat	14	14	5	8	1	2	2	2	2	0	0	3	3	2	2	1	0	2	2	1	0	5	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:127026124G>T	ENST00000393313.1	-	3	738	c.147C>A	c.(145-147)tgC>tgA	p.C49*	ZNF800_ENST00000393312.1_Nonsense_Mutation_p.C49*|ZNF800_ENST00000265827.3_Nonsense_Mutation_p.C49*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	49					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CTGATCGAAAGCACTCAATTA	0.318																																																	0													104	98	100					7																	127026124		2203	4300	6503	SO:0001587	stop_gained	0			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.147C>A	7.37:g.127026124G>T	ENSP00000376989:p.Cys49*		Q9HBN0	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C49*	ENST00000393313.1	37	c.147	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.954410	0.97139	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602;ENST00000436992;ENST00000439506	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9128	7.9435	0.29971	0.1748:0.0:0.8252:0.0	.	.	.	.	X	49	.	ENSP00000265827:C49X	C	-	3	2	ZNF800	126813360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.827000	0.48112	2.546000	0.85860	0.655000	0.94253	TGC	ZNF800	-	NULL	ENSG00000048405		0.318	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1		0	75	0	G	NM_176814		127026124	-1			no_errors	ENST00000265827	ensembl	human	known	74_37	nonsense	10.14	62	7	SNP	1.000	T	T	127026124	G	T	127026124	4	4	185	1	0	0	0	0	0	1	0	0	18217	963	34	3	1863	3	ZNF800	7	127026124	Nonsense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	27303704	127026124	32112539	90	46204											
ABP1	26	genome.wustl.edu	37	chr7	150553895	150553895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagcatcccaatgtcaccGagtttgctgtggggcccctg	7	9	13	12	1	1	0	1	0	0	0	2	2	2	1	4	3	2	3	4	3	1	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:150553895G>A	ENST00000493429.1	+	4	921	c.337G>A	c.(337-339)Gag>Aag	p.E113K	AOC1_ENST00000416793.2_Missense_Mutation_p.E113K|AOC1_ENST00000360937.4_Missense_Mutation_p.E113K|AOC1_ENST00000467291.1_Missense_Mutation_p.E113K			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	113					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)	CAATGTCACCGAGTTTGCTGT	0.607																																																	0													77	77	77					7																	150553895		1919	4124	6043	SO:0001583	missense	0			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.337G>A	7.37:g.150553895G>A	ENSP00000418614:p.Glu113Lys		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.E113K	ENST00000493429.1	37	c.337	CCDS43679.1	7	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181806	0.78677	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000483043	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.32	5.32	0.75619	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.74982	-0.3478	10	0.72032	D	0.01	-35.973	16.4782	0.84144	0.0:0.0:1.0:0.0	.	113;113	C9J690;P19801	.;ABP1_HUMAN	K	113	ENSP00000418614:E113K;ENSP00000418328:E113K;ENSP00000418557:E113K;ENSP00000354193:E113K;ENSP00000411613:E113K;ENSP00000417392:E113K	ENSP00000354193:E113K	E	+	1	0	ABP1	150184828	1.000000	0.71417	0.985000	0.45067	0.345000	0.29048	7.378000	0.79679	2.501000	0.84356	0.655000	0.94253	GAG	AOC1	-	pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	ENSG00000002726		0.607	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AOC1	HGNC	protein_coding	OTTHUMT00000350628.1	-	0	37	0	G	NM_001091		150553895	1	tier1	-	no_errors	ENST00000416793	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	150553895	G	A	150553895	3	1	185	1	0	0	0	0	1	0	0	0	98	1059	37	1	339	1	ABP1	7	150553895	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	23527771	150553895	8584768	91	46205											
PSD3	23362	genome.wustl.edu	37	chr8	18729696	18729696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attatctgggaaatctctgcCtgagtgtctccagttaacag	10	13	9	9	0	3	1	0	1	3	0	5	2	3	2	2	1	2	1	2	1	3	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:18729696C>T	ENST00000327040.8	-	3	780	c.678G>A	c.(676-678)caG>caA	p.Q226Q	PSD3_ENST00000523619.1_Silent_p.Q161Q|PSD3_ENST00000440756.2_Silent_p.Q226Q	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	226					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)		AAATCTCTGCCTGAGTGTCTC	0.478																																																	0													100	97	98					8																	18729696		1908	4119	6027	SO:0001819	synonymous_variant	0			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.678G>A	8.37:g.18729696C>T			A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.Q226	ENST00000327040.8	37	c.678	CCDS43720.1	8																																																																																			PSD3	-	NULL	ENSG00000156011		0.478	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1	-	0	92	0	C	NM_015310		18729696	-1	tier1	-	no_errors	ENST00000440756	ensembl	human	known	74_37	silent	22.86	81	24	SNP	0.654	T	T	18729696	C	T	18729696	2	4	185	1	0	0	0	0	0	0	0	1	12690	680	24	3		3	PSD3	8	18729696	Silent	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09		18729696	127634326	92	46206											
DUSP4	1846	genome.wustl.edu	37	chr8	29195866	29195866	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttatcttccactgggatGcacttgtactgatagtgtcc	7	15	10	9	0	1	1	0	1	1	0	3	2	3	2	2	2	2	3	2	2	3	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:29195866G>T	ENST00000240100.2	-	3	1121	c.732C>A	c.(730-732)tgC>tgA	p.C244*	DUSP4_ENST00000240101.2_Nonsense_Mutation_p.C153*	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	244	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)		CCACTGGGATGCACTTGTACT	0.557																																																	0													193	156	168					8																	29195866		2203	4300	6503	SO:0001587	stop_gained	0			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.732C>A	8.37:g.29195866G>T	ENSP00000240100:p.Cys244*		B2RBU5|D3DSU4|G5E930|Q13524	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.C244*	ENST00000240100.2	37	c.732	CCDS6072.1	8	.	.	.	.	.	.	.	.	.	.	G	49	15.200393	0.99826	.	.	ENSG00000120875	ENST00000240100;ENST00000240101	.	.	.	4.93	2.15	0.27550	.	0.041709	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.7746	0.29030	0.3466:0.0:0.6534:0.0	.	.	.	.	X	244;153	.	ENSP00000240100:C244X	C	-	3	2	DUSP4	29251785	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	0.958000	0.29227	0.334000	0.23590	0.563000	0.77884	TGC	DUSP4	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	ENSG00000120875		0.557	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP4	HGNC	protein_coding	OTTHUMT00000257249.1		0	54	0	G	NM_001394		29195866	-1			no_errors	ENST00000240100	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	T	T	29195866	G	T	29195866	4	4	185	1	0	0	0	0	0	1	0	0	4841	1311	46	3	460	3	DUSP4	8	29195866	Nonsense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	10466170	29195866	117168156	93	46207											
NPBWR1	2831	genome.wustl.edu	37	chr8	53852661	53852661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gctgtacgtgttgctgcgggCgccccgcatgaagaccgtca	6	8	14	13	5	1	2	1	1	0	1	1	2	1	2	3	1	3	5	3	1	2	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:53852661C>T	ENST00000331251.3	+	1	1671	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	65					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTGCTGCGGGCGCCCCGCATG	0.657																																																	0													50	39	43					8																	53852661		2203	4300	6503	SO:0001583	missense	0			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.194C>T	8.37:g.53852661C>T	ENSP00000330284:p.Ala65Val		Q6NTC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.A65V	ENST00000331251.3	37	c.194	CCDS6151.1	8	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778037	0.70107	.	.	ENSG00000183729	ENST00000331251	T	0.72282	-0.64	4.74	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.114616	0.37012	N	0.002294	T	0.69869	0.3159	M	0.71581	2.175	0.41409	D	0.987729	P	0.35527	0.507	B	0.34590	0.186	T	0.74435	-0.3666	10	0.66056	D	0.02	.	14.9469	0.71039	0.0:0.8562:0.1438:0.0	.	65	P48145	NPBW1_HUMAN	V	65	ENSP00000330284:A65V	ENSP00000330284:A65V	A	+	2	0	NPBWR1	54015214	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.428000	0.80296	1.197000	0.43143	0.655000	0.94253	GCG	NPBWR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt,prints_Opioid_rcpt	ENSG00000183729		0.657	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	-	0	61	0	C	NM_005285		53852661	1	tier1	-	no_errors	ENST00000331251	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	T	T	53852661	C	T	53852661	3	4	185	1	0	0	0	0	1	0	0	0	10607	768	27	1	196	1	NPBWR1	8	53852661	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	24656795	53852661	92511361	94	46208											
TRPA1	8989	genome.wustl.edu	37	chr8	72964956	72964956	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctcagaagaagcgcaacGgctttggcgtggccttccct	7	9	13	12	3	1	2	1	0	0	2	2	2	2	2	2	4	2	3	2	4	3	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:72964956G>A	ENST00000262209.4	-	14	1896	c.1689C>T	c.(1687-1689)gcC>gcT	p.A563A	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	563					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAAGCGCAACGGCTTTGGCGT	0.468																																																	0													153	129	137					8																	72964956		2203	4300	6503	SO:0001819	synonymous_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1689C>T	8.37:g.72964956G>A			A6NIN6	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A563	ENST00000262209.4	37	c.1689	CCDS34908.1	8																																																																																			TRPA1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.468	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0	47	0	G	NM_007332		72964956	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	silent	31.67	41	19	SNP	0.008	A	A	72964956	G	A	72964956	2	1	185	1	0	0	0	0	0	0	0	1	16625	1103	39	1		1	TRPA1	8	72964956	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	19112295	72964956	73399066	95	46209											
CNGB3	54714	genome.wustl.edu	37	chr8	87641284	87641284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtagttctgattggctgtaGctgctccaatcacatctctc	8	14	8	11	0	3	1	1	1	2	0	6	1	4	1	1	1	2	6	1	1	3	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:87641284G>T	ENST00000320005.5	-	12	1390	c.1343C>A	c.(1342-1344)gCt>gAt	p.A448D		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	448					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						ATTGGCTGTAGCTGCTCCAAT	0.428																																																	0													208	195	200					8																	87641284		2203	4300	6503	SO:0001583	missense	0			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.1343C>A	8.37:g.87641284G>T	ENSP00000316605:p.Ala448Asp		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.A448D	ENST00000320005.5	37	c.1343	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.331802	0.95733	.	.	ENSG00000170289	ENST00000320005	D	0.97256	-4.31	6.03	6.03	0.97812	.	0.119732	0.56097	D	0.000038	D	0.98830	0.9605	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.99107	1.0845	10	0.72032	D	0.01	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	448;448	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	D	448	ENSP00000316605:A448D	ENSP00000316605:A448D	A	-	2	0	CNGB3	87710400	1.000000	0.71417	0.954000	0.39281	0.920000	0.55202	9.869000	0.99810	2.868000	0.98415	0.555000	0.69702	GCT	CNGB3	-	NULL	ENSG00000170289		0.428	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	-	0	37	0	G	NM_019098		87641284	-1	tier1	-	no_errors	ENST00000320005	ensembl	human	known	74_37	missense	5.26	71	4	SNP	1.000	T	T	87641284	G	T	87641284	3	4	185	1	0	0	0	0	1	0	0	0	3608	971	34	3	1114	3	CNGB3	8	87641284	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	14676328	87641284	58722738	96	46210											
CNBD1	168975	genome.wustl.edu	37	chr8	88365898	88365898	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgtttatatggggaaacTtaaggagaaggagtcctttg	12	13	12	4	0	0	1	0	0	0	1	1	4	1	3	1	4	1	1	1	4	5	6			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:88365898T>G	ENST00000518476.1	+	10	1238	c.1187T>G	c.(1186-1188)cTt>cGt	p.L396R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396								p.L396R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATGGGGAAACTTAAGGAGAAG	0.323																																																	1	Substitution - Missense(1)	large_intestine(1)											84	81	82					8																	88365898		1814	4073	5887	SO:0001583	missense	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1187T>G	8.37:g.88365898T>G	ENSP00000430073:p.Leu396Arg			Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.L396R	ENST00000518476.1	37	c.1187	CCDS55259.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.20|12.20	1.865846|1.865846	0.32977|0.32977	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000518476|ENST00000523299;ENST00000521593	D|D;D	0.94966|0.94046	-3.57|-3.34;-3.34	4.98|4.98	4.98|4.98	0.66077|0.66077	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.000000|0.000000	0.42964|0.42964	D|D	0.000627|0.000627	D|D	0.93884|0.93884	0.8043|0.8043	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	0.999992|0.999992	D|.	0.89917|.	1.0|.	D|.	0.75020|.	0.985|.	D|D	0.89347|0.89347	0.3658|0.3658	10|8	0.87932|0.72032	D|D	0|0.01	-15.9692|-15.9692	11.1056|11.1056	0.48201|0.48201	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	396|.	Q8NA66|.	CNBD1_HUMAN|.	R|V	396|88;33	ENSP00000430073:L396R|ENSP00000430986:L88V;ENSP00000427742:L33V	ENSP00000430073:L396R|ENSP00000427742:L33V	L|L	+|+	2|1	0|2	CNBD1|CNBD1	88435014|88435014	0.353000|0.353000	0.24904|0.24904	0.063000|0.063000	0.19743|0.19743	0.162000|0.162000	0.22319|0.22319	3.947000|3.947000	0.56652|0.56652	1.880000|1.880000	0.54463|0.54463	0.454000|0.454000	0.30748|0.30748	CTT|TTA	CNBD1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000176571		0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	-	0	97	0	T	NM_173538		88365898	1	tier1	-	no_errors	ENST00000518476	ensembl	human	known	74_37	missense	32.33	90	43	SNP	0.229	G	G	88365898	T	G	88365898	3	3	185	1	0	0	0	0	1	0	0	0	3598	1609	56	4	1225	4	CNBD1	8	88365898	Missense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	724614	88365898	57998124	97	46211											
VPS13B	157680	genome.wustl.edu	37	chr8	100865821	100865821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgtgtggccccgggaGctggtcccctccctggggaa	3	10	14	14	1	1	0	0	0	1	0	4	2	3	2	5	5	1	1	5	5	1	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:100865821G>T	ENST00000358544.2	+	56	10390	c.10279G>T	c.(10279-10281)Gct>Tct	p.A3427S	VPS13B_ENST00000357162.2_Missense_Mutation_p.A3402S|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3427					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)			GGCCCCGGGAGCTGGTCCCCT	0.532																																					Colon(161;2205 2542 7338 31318)												0													67	63	64					8																	100865821		2203	4300	6503	SO:0001583	missense	0			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.10279G>T	8.37:g.100865821G>T	ENSP00000351346:p.Ala3427Ser		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.A3427S	ENST00000358544.2	37	c.10279	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.367768	0.01225	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68765	-0.35;-0.35	5.43	3.6	0.41247	.	0.546396	0.18494	N	0.139570	T	0.46814	0.1412	L	0.29908	0.895	0.18873	N	0.999986	B;B	0.15473	0.013;0.008	B;B	0.09377	0.004;0.002	T	0.25950	-1.0117	10	0.11485	T	0.65	.	5.7419	0.18098	0.2395:0.1525:0.608:0.0	.	3402;3427	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	S	3402;3427	ENSP00000349685:A3402S;ENSP00000351346:A3427S	ENSP00000349685:A3402S	A	+	1	0	VPS13B	100934997	0.001000	0.12720	0.023000	0.16930	0.106000	0.19336	0.593000	0.23999	0.617000	0.30160	0.650000	0.86243	GCT	VPS13B	-	NULL	ENSG00000132549		0.532	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	-	0	44	0	G	NM_184042		100865821	1	tier1	-	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	16.07	47	9	SNP	0.007	T	T	100865821	G	T	100865821	3	4	185	1	0	0	0	0	1	0	0	0	17239	971	34	3	10691	3	VPS13B	8	100865821	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	12499923	100865821	45498201	98	46212											
SMARCA2	6595	genome.wustl.edu	37	chr9	2115910	2115910	+	Frame_Shift_Del	DEL	A	A	-																															taccgtgaacagcgtggaggAaaagatcctcgcggccgcaa																										TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:2115910delA	ENST00000382203.1	+	25	3754	c.3545delA	c.(3544-3546)gaafs	p.E1182fs	SMARCA2_ENST00000357248.2_Frame_Shift_Del_p.E1182fs|SMARCA2_ENST00000349721.2_Frame_Shift_Del_p.E1182fs|SMARCA2_ENST00000382194.1_Frame_Shift_Del_p.E1182fs			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1182	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGCGTGGAGGAAAAGATCCTC	0.582																																																	0													44	42	42					9																	2115910		2203	4300	6503	SO:0001589	frameshift_variant	0			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.3545delA	9.37:g.2115910delA	ENSP00000371638:p.Glu1182fs		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.K1183fs	ENST00000382203.1	37	c.3545	CCDS34977.1	9																																																																																			SMARCA2	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000080503		0.582	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1		0	48	0	A	NM_003070		2115910	1	tier1		no_errors	ENST00000349721	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-	-	2115910	A	-	2115910	7	5	185	1	0	1	0	1	0	0	0	0	14814	246	9	0	3639	0	SMARCA2	9	2115910	Frame_Shift_Del	DEL	A	TCGA-ZR-A9CJ-01B-11D-A387-09		2115910	139097521	99	46213											
PTPRD	5789	genome.wustl.edu	37	chr9	8389292	8389292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactccgttgttcccatatCattctccaaaagtccccaaa	11	11	4	15	1	2	0	1	0	1	0	6	0	5	0	5	0	0	3	5	0	4	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:8389292C>A	ENST00000381196.4	-	34	4869	c.4326G>T	c.(4324-4326)atG>atT	p.M1442I	PTPRD_ENST00000397611.3_Missense_Mutation_p.M1032I|PTPRD_ENST00000537002.1_Missense_Mutation_p.M1032I|PTPRD_ENST00000360074.4_Missense_Mutation_p.M1429I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M1420I|PTPRD_ENST00000486161.1_Missense_Mutation_p.M1035I|PTPRD_ENST00000397617.3_Missense_Mutation_p.M1035I|PTPRD_ENST00000540109.1_Missense_Mutation_p.M1442I|PTPRD_ENST00000355233.5_Missense_Mutation_p.M1036I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M1442I|PTPRD_ENST00000397606.3_Missense_Mutation_p.M1035I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1442	Tyrosine-protein phosphatase 1. {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)		GTTCCCATATCATTCTCCAAA	0.393										TSP Lung(15;0.13)																																							0													182	175	177					9																	8389292		2203	4300	6503	SO:0001583	missense	0			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.4326G>T	9.37:g.8389292C>A	ENSP00000370593:p.Met1442Ile		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.M1442I	ENST00000381196.4	37	c.4326	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.404097	0.96051	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.96999	0.9020	H	0.99368	4.535	0.80722	D	1	P;P;P;P;D;P;D;D;D	0.89917	0.777;0.777;0.777;0.777;1.0;0.736;1.0;0.986;1.0	P;P;P;P;D;P;D;D;D	0.91635	0.719;0.719;0.719;0.719;0.996;0.598;0.997;0.986;0.999	D	0.98300	1.0518	9	.	.	.	.	20.119	0.97953	0.0:1.0:0.0:0.0	.	1035;1026;1035;1036;1032;1032;1429;1442;1442	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	1442;1442;1429;1420;1036;1035;1032;1032;913;1442;1035;1035	ENSP00000370593:M1442I;ENSP00000348812:M1442I;ENSP00000353187:M1429I;ENSP00000351293:M1420I;ENSP00000347373:M1036I;ENSP00000380741:M1035I;ENSP00000380735:M1032I;ENSP00000440515:M1032I;ENSP00000438164:M1442I;ENSP00000417093:M1035I;ENSP00000380731:M1035I	.	M	-	3	0	PTPRD	8379292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.763000	0.94921	0.555000	0.69702	ATG	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000153707		0.393	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3		0	96	0	C			8389292	-1			no_errors	ENST00000356435	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A	A	8389292	C	A	8389292	3	1	185	1	0	0	0	0	1	0	0	0	12844	826	29	3	1452	3	PTPRD	9	8389292	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	6273382	8389292	132824139	100	46214											
C9orf93	203238	genome.wustl.edu	37	chr9	15920397	15920397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttcacacagcttgtttaCgtgaaaatgcaagtttacaa	15	12	6	8	1	1	1	1	1	0	0	1	1	1	1	0	0	5	4	0	0	7	6	rs200767961		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:15920397C>T	ENST00000380701.3	+	25	4058	c.3730C>T	c.(3730-3732)Cgt>Tgt	p.R1244C	CCDC171_ENST00000486641.2_3'UTR	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1244																	AGCTTGTTTACGTGAAAATGC	0.333																																																	0													131	110	117					9																	15920397		2203	4299	6502	SO:0001583	missense	0			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.3730C>T	9.37:g.15920397C>T	ENSP00000370077:p.Arg1244Cys		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.R1244C	ENST00000380701.3	37	c.3730	CCDS6481.1	9	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672046	0.67928	.	.	ENSG00000164989	ENST00000380701;ENST00000359391	T	0.43688	0.94	5.57	4.65	0.58169	.	0.158171	0.37219	N	0.002198	T	0.51618	0.1685	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.977	T	0.55711	-0.8098	10	0.87932	D	0	-0.9212	13.6954	0.62575	0.1594:0.8406:0.0:0.0	.	1252;1244	B7ZM22;Q6TFL3	.;CI093_HUMAN	C	1244;98	ENSP00000370077:R1244C	ENSP00000352352:R98C	R	+	1	0	C9orf93	15910397	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.959000	0.49153	1.291000	0.44653	0.557000	0.71058	CGT	CCDC171	-	NULL	ENSG00000164989		0.333	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	-	0	56	0	C	NM_173550		15920397	1	tier1	rs200767961	no_errors	ENST00000380701	ensembl	human	known	74_37	missense	48.28	30	28	SNP	1.000	T	T	15920397	C	T	15920397	3	4	185	1	0	0	0	0	1	0	0	0	2513	536	19	1	3824	1	C9orf93	9	15920397	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	7531105	15920397	125293034	101	46215											
DENND4C	55667	genome.wustl.edu	37	chr9	19332129	19332129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtcagagcacttcagcagGcatatgatgtacttattaag	14	11	9	7	0	2	2	2	1	0	1	2	2	2	2	0	1	3	4	0	1	5	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:19332129G>A	ENST00000380432.2	+	13	1732	c.1699G>A	c.(1699-1701)Gca>Aca	p.A567T	DENND4C_ENST00000434457.2_Missense_Mutation_p.A803T|DENND4C_ENST00000602925.1_Missense_Mutation_p.A803T			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	567					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						ACTTCAGCAGGCATATGATGT	0.363																																																	0													148	138	141					9																	19332129		2203	4300	6503	SO:0001583	missense	0			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.1699G>A	9.37:g.19332129G>A	ENSP00000369797:p.Ala567Thr		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A803T	ENST00000380432.2	37	c.2407		9	.	.	.	.	.	.	.	.	.	.	G	34	5.303462	0.95601	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.87	4.87	0.63330	.	0.048649	0.85682	D	0.000000	D	0.83431	0.5253	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.85891	0.1428	9	0.87932	D	0	-18.2587	18.5595	0.91095	0.0:0.0:1.0:0.0	.	567	Q5VZ89	DEN4C_HUMAN	T	567	.	ENSP00000369802:A567T	A	+	1	0	DENND4C	19322129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.696000	0.92011	0.655000	0.94253	GCA	DENND4C	-	NULL	ENSG00000137145		0.363	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		-	0	59	0	G	NM_017925		19332129	1	tier1	-	no_errors	ENST00000602925	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A	A	19332129	G	A	19332129	3	1	185	1	0	0	0	0	1	0	0	0	4449	1203	42	3	1749	3	DENND4C	9	19332129	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	3411732	19332129	121881302	102	46216											
TEK	7010	genome.wustl.edu	37	chr9	27169601	27169601	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaaacctcttcacctCggccttcaccaggctgatag	10	8	10	13	1	3	1	2	1	1	0	4	3	3	3	4	4	1	1	4	4	2	3	rs540914328		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:27169601C>A	ENST00000380036.4	+	4	1044	c.602C>A	c.(601-603)tCg>tAg	p.S201*	TEK_ENST00000519097.1_Nonsense_Mutation_p.S97*|TEK_ENST00000406359.4_Nonsense_Mutation_p.S201*	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	201					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CTCTTCACCTCGGCCTTCACC	0.478																																																	0													112	103	106					9																	27169601		2203	4300	6503	SO:0001587	stop_gained	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.602C>A	9.37:g.27169601C>A	ENSP00000369375:p.Ser201*		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S201*	ENST00000380036.4	37	c.602	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.447468	0.98289	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	.	.	.	5.48	5.48	0.80851	.	0.000000	0.44902	D	0.000420	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3034	0.94151	0.0:1.0:0.0:0.0	.	.	.	.	X	97;201;201;201;54	.	ENSP00000343716:S201X	S	+	2	0	TEK	27159601	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.343000	0.65976	2.739000	0.93911	0.561000	0.74099	TCG	TEK	-	NULL	ENSG00000120156		0.478	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	-	0	55	0	C			27169601	1	tier1	-	no_errors	ENST00000380036	ensembl	human	known	74_37	nonsense	14.81	46	8	SNP	1.000	A	A	27169601	C	A	27169601	4	1	185	1	0	0	0	0	0	1	0	0	15798	893	31	2	616	2	TEK	9	27169601	Nonsense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	7837472	27169601	114043830	103	46217											
FAM122A	116224	genome.wustl.edu	37	chr9	71395725	71395725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgaatatcagccaaaGagatttttccagggcatcac	15	9	8	9	0	2	2	2	1	0	1	3	4	3	2	2	1	2	1	2	1	4	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:71395725G>T	ENST00000394264.3	+	1	762	c.645G>T	c.(643-645)aaG>aaT	p.K215N	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	215										endometrium(1)|lung(2)	3						ATCAGCCAAAGAGATTTTTCC	0.448																																																	0													109	107	108					9																	71395725		2203	4300	6503	SO:0001583	missense	0			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.645G>T	9.37:g.71395725G>T	ENSP00000377807:p.Lys215Asn			Missense_Mutation	SNP	NULL	p.K215N	ENST00000394264.3	37	c.645	CCDS6623.1	9	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885784	0.51908	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	T	0.60171	0.21	4.42	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.73217	2.22	0.36818	D	0.886267	D	0.76494	0.999	D	0.78314	0.991	T	0.76440	-0.2958	10	0.72032	D	0.01	-59.0461	8.671	0.34149	0.1022:0.0:0.8978:0.0	.	215	Q96E09	F122A_HUMAN	N	215;199	ENSP00000377807:K215N	ENSP00000366492:K199N	K	+	3	2	FAM122A	70585545	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.408000	0.59761	1.470000	0.48102	0.563000	0.77884	AAG	FAM122A	-	NULL	ENSG00000187866		0.448	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM122A	HGNC	protein_coding	OTTHUMT00000052556.1		0	34	0	G	NM_138333		71395725	1			no_errors	ENST00000394264	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	71395725	G	T	71395725	3	4	185	1	0	0	0	0	1	0	0	0	5438	933	33	3	647	3	FAM122A	9	71395725	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	44226124	71395725	69817706	104	46218											
IKBKAP	8518	genome.wustl.edu	37	chr9	111665946	111665946	+	Silent	SNP	T	T	A	0	1	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	accccatccaccgctgcagaTgaactgacaaaaaaaaggag	17	4	8	12	1	0	3	0	2	0	1	1	4	1	4	4	1	2	2	4	1	5	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:111665946T>A	ENST00000374647.5	-	15	1954	c.1647A>T	c.(1645-1647)tcA>tcT	p.S549S	IKBKAP_ENST00000537196.1_Silent_p.S200S	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	549					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|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)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCGCTGCAGATGAACTGACAA	0.378																																																	0													89	80	83					9																	111665946		2203	4299	6502	SO:0001819	synonymous_variant	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1647A>T	9.37:g.111665946T>A			Q5JSV2|Q9H327|Q9UG87	Silent	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.S549	ENST00000374647.5	37	c.1647	CCDS6773.1	9																																																																																			IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.378	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	-	0	37	0	T			111665946	-1	tier1	-	no_errors	ENST00000374647	ensembl	human	known	74_37	silent	42.22	26	19	SNP	0.393	A	A	111665946	T	A	111665946	2	1	185	1	0	0	0	0	0	0	0	1	7637	1451	51	5		5	IKBKAP	9	111665946	Silent	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	40270221	111665946	29547485	105	46219											
NUP188	23511	genome.wustl.edu	37	chr9	131765654	131765654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggaggaggcggaccacaCcgtgggttttattctgcagc	7	9	14	11	2	1	0	0	0	1	0	1	3	1	3	3	5	2	2	3	5	1	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:131765654C>A	ENST00000372577.2	+	38	4376	c.4355C>A	c.(4354-4356)aCc>aAc	p.T1452N	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1452					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						GCGGACCACACCGTGGGTTTT	0.572																																																	0													139	129	133					9																	131765654		2203	4300	6503	SO:0001583	missense	0			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.4355C>A	9.37:g.131765654C>A	ENSP00000361658:p.Thr1452Asn		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.T1452N	ENST00000372577.2	37	c.4355	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	30	5.050216	0.93740	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.34072	1.38	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.61110	0.2321	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.972;0.991	T	0.61783	-0.6992	10	0.87932	D	0	-31.7491	19.0419	0.93004	0.0:1.0:0.0:0.0	.	785;1452	E9PET9;Q5SRE5	.;NU188_HUMAN	N	1341;1452	ENSP00000361658:T1452N	ENSP00000349125:T1341N	T	+	2	0	NUP188	130805475	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.487000	0.81328	2.758000	0.94735	0.561000	0.74099	ACC	NUP188	-	NULL	ENSG00000095319		0.572	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	-	0	52	0	C			131765654	1	tier1	-	no_errors	ENST00000372577	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	A	A	131765654	C	A	131765654	3	1	185	1	0	0	0	0	1	0	0	0	10797	507	18	3	4505	3	NUP188	9	131765654	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	20099708	131765654	9447777	106	46220											
TOR1A	1861	genome.wustl.edu	37	chr9	132576441	132576441	+	Missense_Mutation	SNP	A	A	G	1	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	ggtgtttgtattccagggggAggaagggaacaaaataatca	14	9	14	4	0	1	0	1	0	0	0	2	3	2	3	1	5	1	2	1	5	6	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:132576441A>G	ENST00000351698.4	-	5	857	c.809T>C	c.(808-810)cTc>cCc	p.L270P		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	270	Interaction with KLC1.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TTCCAGGGGGAGGAAGGGAAC	0.468																																																	0													135	129	131					9																	132576441		2203	4300	6503	SO:0001583	missense	0			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"dystonia 1, torsion (autosomal dominant; torsin A)"	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.809T>C	9.37:g.132576441A>G	ENSP00000345719:p.Leu270Pro		B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr	p.L270P	ENST00000351698.4	37	c.809	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512437	0.85389	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.68181	-0.31	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.86322	0.5905	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90149	0.4219	10	0.87932	D	0	-11.4284	14.3493	0.66688	1.0:0.0:0.0:0.0	.	270	O14656	TOR1A_HUMAN	P	239;270	ENSP00000345719:L270P	ENSP00000345719:L270P	L	-	2	0	TOR1A	131616262	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	1.974000	0.57490	0.459000	0.35465	CTC	TOR1A	-	superfamily_P-loop_NTPase,pirsf_Torsin_subgr	ENSG00000136827		0.468	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	HGNC	protein_coding	OTTHUMT00000054611.1		0	47	0	A	NM_000113		132576441	-1			no_errors	ENST00000351698	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	G	G	132576441	A	G	132576441	3	3	185	1	0	0	0	0	1	0	0	0	16419	304	11	4	193	4	TOR1A	9	132576441	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	810787	132576441	8636990	107	46221											
TAF3	83860	genome.wustl.edu	37	chr10	8006704	8006704	+	Missense_Mutation	SNP	T	T	C	0	1	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	cagatcctttcgaattttctTctggatcggaatctgaagga	10	14	9	8	2	3	2	0	1	3	1	6	6	4	5	1	3	0	0	1	3	3	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:8006704T>C	ENST00000344293.5	+	3	1437	c.1231T>C	c.(1231-1233)Tct>Cct	p.S411P		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	411					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						CGAATTTTCTTCTGGATCGGA	0.473																																																	0													96	92	93					10																	8006704		1875	4125	6000	SO:0001583	missense	0			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.1231T>C	10.37:g.8006704T>C	ENSP00000340271:p.Ser411Pro		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S411P	ENST00000344293.5	37	c.1231	CCDS41487.1	10	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615866	0.66672	.	.	ENSG00000165632	ENST00000344293	T	0.35973	1.28	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000007	T	0.60534	0.2276	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.59511	-0.7441	10	0.30078	T	0.28	-20.7983	15.8234	0.78676	0.0:0.0:0.0:1.0	.	411	Q5VWG9	TAF3_HUMAN	P	411	ENSP00000340271:S411P	ENSP00000340271:S411P	S	+	1	0	TAF3	8046710	1.000000	0.71417	0.998000	0.56505	0.768000	0.43524	7.020000	0.76419	2.148000	0.66965	0.528000	0.53228	TCT	TAF3	-	NULL	ENSG00000165632		0.473	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	-	0	24	0	T	NM_031923		8006704	1	tier1	-	no_errors	ENST00000344293	ensembl	human	known	74_37	missense	33.33	31	16	SNP	1.000	C	C	8006704	T	C	8006704	3	2	185	1	0	0	0	0	1	0	0	0	15572	1783	62	4	1241	4	TAF3	10	8006704	Missense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09		8006704	127528043	108	46222											
PRKG1	5592	genome.wustl.edu	37	chr10	53814284	53814284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatattatcaggcaaggtgCaagaggggacaccttcttta	13	11	10	7	0	2	1	1	0	1	1	2	2	2	2	1	4	1	2	1	4	6	6			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:53814284C>A	ENST00000401604.2	+	6	952	c.758C>A	c.(757-759)gCa>gAa	p.A253E	PRKG1_ENST00000373985.1_Missense_Mutation_p.A241E|PRKG1_ENST00000373980.4_Missense_Mutation_p.A268E|PRKG1_ENST00000373975.2_5'UTR			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	253	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGGCAAGGTGCAAGAGGGGAC	0.418																																																	0													114	101	105					10																	53814284		2203	4300	6503	SO:0001583	missense	0				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.758C>A	10.37:g.53814284C>A	ENSP00000384200:p.Ala253Glu		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom	p.A268E	ENST00000401604.2	37	c.803	CCDS44399.1	10	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104831	0.20632	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.93	5.93	0.95920	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.057449	0.64402	D	0.000002	T	0.09905	0.0243	N	0.01431	-0.87	0.80722	D	1	B;B	0.27068	0.167;0.081	B;B	0.25614	0.062;0.061	T	0.20538	-1.0272	10	0.02654	T	1	-18.6034	17.8375	0.88704	0.0:1.0:0.0:0.0	.	268;253	Q13976-2;Q13976	.;KGP1_HUMAN	E	253;241;268;126	ENSP00000384200:A253E;ENSP00000363097:A241E;ENSP00000363092:A268E;ENSP00000363087:A126E	ENSP00000363087:A126E	A	+	2	0	PRKG1	53484290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.348000	0.79366	2.802000	0.96397	0.563000	0.77884	GCA	PRKG1	-	pirsf_cGMP-dependent_protein_kinase,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom	ENSG00000185532		0.418	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	HGNC	protein_coding		-	0	35	0	C			53814284	1	tier1	-	no_errors	ENST00000373980	ensembl	human	known	74_37	missense	24.00	38	12	SNP	1.000	A	A	53814284	C	A	53814284	3	1	185	1	0	0	0	0	1	0	0	0	12564	710	25	3	1095	3	PRKG1	10	53814284	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	45807580	53814284	81720463	109	46223											
PCDH15	65217	genome.wustl.edu	37	chr10	55973782	55973782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcctaggatgcatatggaAaaatcgtgggtaatcctcag	12	11	11	7	1	1	0	1	0	0	0	4	2	3	2	2	3	1	2	2	3	5	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:55973782A>G	ENST00000320301.6	-	10	1406	c.1012T>C	c.(1012-1014)Ttc>Ctc	p.F338L	PCDH15_ENST00000395438.1_Missense_Mutation_p.F338L|PCDH15_ENST00000361849.3_Missense_Mutation_p.F338L|PCDH15_ENST00000395440.1_Missense_Mutation_p.F338L|PCDH15_ENST00000437009.1_Missense_Mutation_p.F338L|PCDH15_ENST00000373957.3_Missense_Mutation_p.F316L|PCDH15_ENST00000395445.1_Missense_Mutation_p.F338L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.F343L|PCDH15_ENST00000395430.1_Missense_Mutation_p.F338L|PCDH15_ENST00000373955.1_Missense_Mutation_p.F338L|PCDH15_ENST00000395432.2_Missense_Mutation_p.F301L|PCDH15_ENST00000395442.1_Missense_Mutation_p.F338L|PCDH15_ENST00000395433.1_Missense_Mutation_p.F316L|PCDH15_ENST00000395446.1_Missense_Mutation_p.F338L|PCDH15_ENST00000373965.2_Missense_Mutation_p.F338L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCATATGGAAAAATCGTGGG	0.368										HNSCC(58;0.16)																																							0													88	89	89					10																	55973782		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1012T>C	10.37:g.55973782A>G	ENSP00000322604:p.Phe338Leu		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F338L	ENST00000320301.6	37	c.1012	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896089	0.52121	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;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;1.91;0.59;0.59;0.59;0.59;0.59;0.59;0.59	4.99	3.81	0.43845	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56321	0.1977	M	0.84773	2.715	0.54753	D	0.999988	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.27679	0.008;0.185;0.185;0.09;0.017;0.185;0.008;0.029;0.09;0.185;0.004;0.012;0.006;0.019;0.09	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29353	0.011;0.071;0.071;0.053;0.029;0.071;0.011;0.033;0.076;0.101;0.012;0.033;0.044;0.02;0.032	T	0.55698	-0.8100	9	0.42905	T	0.14	.	10.7924	0.46440	0.9223:0.0:0.0777:0.0	.	316;338;338;343;338;301;338;338;338;338;338;343;338;316;338	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	338;343;338;338;338;338;338;338;301;338;316;316;338;338;343;338;338	ENSP00000363076:F338L;ENSP00000410304:F343L;ENSP00000378826:F338L;ENSP00000378832:F338L;ENSP00000378833:F338L;ENSP00000378829:F338L;ENSP00000378827:F338L;ENSP00000378820:F301L;ENSP00000354950:F338L;ENSP00000378821:F316L;ENSP00000363068:F316L;ENSP00000322604:F338L;ENSP00000378818:F338L;ENSP00000412628:F338L;ENSP00000363066:F338L	ENSP00000322604:F338L	F	-	1	0	PCDH15	55643788	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	4.918000	0.63376	0.805000	0.34159	0.455000	0.32223	TTC	PCDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000150275		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2		0	32	0	A	NM_033056		55973782	-1			no_errors	ENST00000320301	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	G	G	55973782	A	G	55973782	3	3	185	1	0	0	0	0	1	0	0	0	11550	14	1	4	6595	4	PCDH15	10	55973782	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	2159498	55973782	79560965	110	46224											
PRF1	5551	genome.wustl.edu	37	chr10	72357828	72357828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccacacggccccactcCggtttcctggaggctccccc	5	7	8	21	2	1	0	1	0	0	0	4	1	4	1	7	4	0	2	7	4	0	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:72357828C>A	ENST00000441259.1	-	3	1809	c.1649G>T	c.(1648-1650)cGg>cTg	p.R550L	PRF1_ENST00000373209.2_Missense_Mutation_p.R550L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	550					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCCCACTCCGGTTTCCTGG	0.582			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0													51	53	52					10																	72357828		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1649G>T	10.37:g.72357828C>A	ENSP00000398568:p.Arg550Leu		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom	p.R550L	ENST00000441259.1	37	c.1649	CCDS7305.1	10	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094911	0.76870	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.92299	-3.01;-3.01	5.97	5.06	0.68205	.	0.455646	0.23579	N	0.046677	D	0.93523	0.7933	M	0.80028	2.48	0.32452	N	0.545266	D	0.56035	0.974	P	0.48982	0.597	D	0.95258	0.8366	10	0.72032	D	0.01	-38.3939	13.2272	0.59921	0.0:0.8407:0.1593:0.0	.	550	P14222	PERF_HUMAN	L	550	ENSP00000362305:R550L;ENSP00000398568:R550L	ENSP00000316746:R550L	R	-	2	0	PRF1	72027834	0.996000	0.38824	0.996000	0.52242	0.688000	0.40055	1.814000	0.38972	1.510000	0.48803	-0.176000	0.13171	CGG	PRF1	-	NULL	ENSG00000180644		0.582	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRF1	HGNC	protein_coding	OTTHUMT00000048517.2	-	0	58	0	C	NM_005041		72357828	-1	tier1	-	no_errors	ENST00000373209	ensembl	human	known	74_37	missense	12.50	49	7	SNP	1.000	A	A	72357828	C	A	72357828	3	1	185	1	0	0	0	0	1	0	0	0	12520	652	23	2	22	2	PRF1	10	72357828	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	16384046	72357828	63176919	111	46225											
NDST2	8509	genome.wustl.edu	37	chr10	75565523	75565523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagatgggtcataaagatgCtgatctgtaaggggtacctg	12	10	13	6	0	2	3	1	1	1	2	2	3	2	3	1	3	2	3	1	3	4	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:75565523C>T	ENST00000309979.6	-	8	2124	c.1568G>A	c.(1567-1569)aGc>aAc	p.S523N	NDST2_ENST00000299641.4_Missense_Mutation_p.S400N|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.S523N			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	523	Heparan sulfate N-deacetylase 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)					CATAAAGATGCTGATCTGTAA	0.522																																																	0													97	87	91					10																	75565523		2203	4300	6503	SO:0001583	missense	0			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.1568G>A	10.37:g.75565523C>T	ENSP00000310657:p.Ser523Asn		Q2TB32|Q59H89	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S523N	ENST00000309979.6	37	c.1568	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556042	0.65425	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.47177	1.14;0.85	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	0.976;1.0;0.976	P;D;P	0.76071	0.87;0.987;0.776	T	0.49670	-0.8915	10	0.17369	T	0.5	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	400;193;523	B4E139;B4DQU1;P52849	.;.;NDST2_HUMAN	N	523;400	ENSP00000310657:S523N;ENSP00000299641:S400N	ENSP00000299641:S400N	S	-	2	0	NDST2	75235529	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	7.818000	0.86416	2.825000	0.97269	0.655000	0.94253	AGC	NDST2	-	NULL	ENSG00000166507		0.522	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1		0	61	0	C	NM_003635		75565523	-1			no_errors	ENST00000309979	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	75565523	C	T	75565523	3	4	185	1	0	0	0	0	1	0	0	0	10295	797	28	3	1115	3	NDST2	10	75565523	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	3207695	75565523	59969224	112	46226											
MYST4	23522	genome.wustl.edu	37	chr10	76781008	76781008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattttaatttctaatgctGcagtgtctgaagaagagcga	13	13	9	6	1	2	3	0	1	2	2	2	4	2	3	0	0	3	2	0	0	5	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:76781008G>T	ENST00000287239.4	+	15	3475	c.2986G>T	c.(2986-2988)Gca>Tca	p.A996S	RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372711.1_Missense_Mutation_p.A813S|KAT6B_ENST00000372714.1_Missense_Mutation_p.A704S|KAT6B_ENST00000372724.1_Missense_Mutation_p.A704S|KAT6B_ENST00000372725.1_Missense_Mutation_p.A704S|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	996	Catalytic.|Interaction with BRPF1.				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)										ttctaaTGCTGCAGTGTCTGA	0.398																																																	0													86	85	85					10																	76781008		2203	4300	6503	SO:0001583	missense	0			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.2986G>T	10.37:g.76781008G>T	ENSP00000287239:p.Ala996Ser		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A996S	ENST00000287239.4	37	c.2986	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299669	0.60195	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77229	-1.08;-1.08;2.04;-1.08;-1.07	6.02	6.02	0.97574	.	0.137984	0.32703	N	0.005756	T	0.73869	0.3642	L	0.29908	0.895	0.44880	D	0.997893	B;P;D	0.53151	0.076;0.592;0.958	B;B;P	0.46917	0.054;0.397;0.531	T	0.72064	-0.4403	10	0.33141	T	0.24	-4.7642	18.7001	0.91617	0.0:0.0:1.0:0.0	.	813;704;996	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	S	704;704;996;704;813	ENSP00000361810:A704S;ENSP00000361809:A704S;ENSP00000287239:A996S;ENSP00000361799:A704S;ENSP00000361796:A813S	ENSP00000287239:A996S	A	+	1	0	KAT6B	76451014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.197000	0.89727	2.855000	0.98099	0.655000	0.94253	GCA	KAT6B	-	NULL	ENSG00000156650		0.398	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1		0	48	0	G	NM_012330		76781008	1			no_errors	ENST00000287239	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	76781008	G	T	76781008	3	4	185	1	0	0	0	0	1	0	0	0	10143	1319	46	3	3036	3	MYST4	10	76781008	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	1215485	76781008	58753739	113	46227											
ANKRD2	26287	genome.wustl.edu	37	chr10	99337638	99337638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaccacggggctcagagtGcagccctgcagaaggtgaag	11	4	15	11	1	1	3	1	1	0	2	1	3	1	3	2	3	4	4	2	3	2	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:99337638G>A	ENST00000307518.5	+	2	517	c.250G>A	c.(250-252)Gca>Aca	p.A84T	ANKRD2_ENST00000370655.1_Missense_Mutation_p.A57T|ANKRD2_ENST00000298808.5_Missense_Mutation_p.A84T|ANKRD2_ENST00000455090.1_Missense_Mutation_p.A57T			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	84	May mediate interaction with PML, p53/TP53 and YBX1.				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)		GGCTCAGAGTGCAGCCCTGCA	0.617																																																	0													56	44	48					10																	99337638		2196	4287	6483	SO:0001583	missense	0			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.250G>A	10.37:g.99337638G>A	ENSP00000306163:p.Ala84Thr		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A84T	ENST00000307518.5	37	c.250	CCDS7466.1	10	.	.	.	.	.	.	.	.	.	.	G	8.834	0.940706	0.18281	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	T;T;T;T	0.48522	1.03;0.82;0.98;0.81	4.65	2.76	0.32466	.	1.745460	0.03042	N	0.153491	T	0.29783	0.0744	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.14023	0.001;0.01	T	0.21075	-1.0256	10	0.15952	T	0.53	-0.1502	8.7867	0.34825	0.1473:0.4966:0.3561:0.0	.	84;84	Q9GZV1-2;Q9GZV1	.;ANKR2_HUMAN	T	84;84;57;57	ENSP00000306163:A84T;ENSP00000298808:A84T;ENSP00000359689:A57T;ENSP00000403114:A57T	ENSP00000298808:A84T	A	+	1	0	ANKRD2	99327628	0.000000	0.05858	0.004000	0.12327	0.529000	0.34654	-0.191000	0.09601	0.544000	0.28883	-0.311000	0.09066	GCA	ANKRD2	-	NULL	ENSG00000165887		0.617	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD2	HGNC	protein_coding		-	0	44	0	G			99337638	1	tier1	-	no_errors	ENST00000307518	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.002	A	A	99337638	G	A	99337638	3	1	185	1	0	0	0	0	1	0	0	0	647	1319	46	3	256	3	ANKRD2	10	99337638	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	22556630	99337638	36197109	114	46228											
MUC6	4588	genome.wustl.edu	37	chr11	1016221	1016224	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															agaaggaaaaagaggagatgCagacactgatgcagtcgtgg																										TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	CAGA	CAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:1016221_1016224delCAGA	ENST00000421673.2	-	31	6627_6630	c.6577_6580delTCTG	c.(6577-6582)tctgcafs	p.SA2193fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2193	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)		AGAGGAGATGCAGACACTGATGCA	0.559																																																	0																																										SO:0001589	frameshift_variant	0			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.6577_6580delTCTG	11.37:g.1016221_1016224delCAGA	ENSP00000406861:p.Ser2193fs		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S2193fs	ENST00000421673.2	37	c.6580_6577	CCDS44513.1	11																																																																																			MUC6	-	NULL	ENSG00000184956		0.559	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2		0	21	0	CAGA	XM_290540		1016224	-1	tier1		no_errors	ENST00000421673	ensembl	human	known	74_37	frame_shift_del	31.25	22	10	DEL	0.000:0.000:0.002:0.000	-	-	1016224	CAGA	-	1016221	7	5	185	1	0	1	0	1	0	0	0	0	10018	710	25	0	751	0	MUC6	11	1016221	Frame_Shift_Del	DEL	CAGA	TCGA-ZR-A9CJ-01B-11D-A387-09		1016221	133990295	115	46229											
MUC6	4588	genome.wustl.edu	37	chr11	1026436	1026436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcggcattctcgtagaGgccctcggcgcagacacagc	7	6	12	16	5	1	2	0	0	1	2	4	2	1	2	2	3	1	3	2	3	1	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:1026436G>A	ENST00000421673.2	-	20	2487	c.2437C>T	c.(2437-2439)Ctc>Ttc	p.L813F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	813					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)		TTCTCGTAGAGGCCCTCGGCG	0.667																																																	0													32	38	36					11																	1026436		2027	4175	6202	SO:0001583	missense	0			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.2437C>T	11.37:g.1026436G>A	ENSP00000406861:p.Leu813Phe		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.L813F	ENST00000421673.2	37	c.2437	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457352	0.26161	.	.	ENSG00000184956	ENST00000421673	D	0.90261	-2.64	3.48	3.48	0.39840	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.91314	0.7261	L	0.31065	0.9	0.30382	N	0.781874	D	0.89917	1.0	D	0.79784	0.993	D	0.87098	0.2177	9	0.72032	D	0.01	.	10.8943	0.47012	0.0:0.0:0.8121:0.1879	.	813	Q6W4X9	MUC6_HUMAN	F	813	ENSP00000406861:L813F	ENSP00000406861:L813F	L	-	1	0	MUC6	1016436	0.975000	0.34042	0.729000	0.30791	0.079000	0.17450	2.312000	0.43726	1.950000	0.56595	0.561000	0.74099	CTC	MUC6	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000184956		0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0	47	0	G	XM_290540		1026436	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	25.93	40	14	SNP	0.965	A	A	1026436	G	A	1026436	3	1	185	1	0	0	0	0	1	0	0	0	10018	1000	35	3	4938	3	MUC6	11	1026436	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	10215	1026436	133980080	116	46230											
OR51A4	401666	genome.wustl.edu	37	chr11	4967768	4967768	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgtcagaacaggccaacTtcatgacatcctggtggaga	11	10	11	9	0	2	3	2	1	0	2	3	4	3	3	2	3	2	1	2	3	2	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:4967768T>G	ENST00000380373.2	-	1	588	c.563A>C	c.(562-564)aAg>aCg	p.K188T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGGCCAACTTCATGACATC	0.413																																																	0													72	70	70					11																	4967768		2196	4284	6480	SO:0001583	missense	0			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.563A>C	11.37:g.4967768T>G	ENSP00000369731:p.Lys188Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K188T	ENST00000380373.2	37	c.563	CCDS31367.1	11	.	.	.	.	.	.	.	.	.	.	T	11.76	1.734892	0.30774	.	.	ENSG00000205497	ENST00000380373	T	0.39997	1.05	3.44	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64583	0.2611	M	0.89163	3.01	0.09310	N	1	D	0.67145	0.996	D	0.72625	0.978	T	0.51356	-0.8716	9	0.87932	D	0	.	7.4109	0.27017	0.0:0.2083:0.0:0.7917	.	188	Q8NGJ6	O51A4_HUMAN	T	188	ENSP00000369731:K188T	ENSP00000369731:K188T	K	-	2	0	OR51A4	4924344	0.000000	0.05858	0.695000	0.30226	0.651000	0.38670	0.338000	0.19858	0.509000	0.28195	-0.627000	0.03993	AAG	OR51A4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000205497		0.413	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A4	HGNC	protein_coding	OTTHUMT00000142821.1	-	0	64	0	T	NM_001005329		4967768	-1	tier1	-	no_errors	ENST00000380373	ensembl	human	known	74_37	missense	21.74	54	15	SNP	0.003	G	G	4967768	T	G	4967768	3	3	185	1	0	0	0	0	1	0	0	0	11126	1609	56	4	380	4	OR51A4	11	4967768	Missense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	3941332	4967768	130038748	117	46231											
OR52N5	390075	genome.wustl.edu	37	chr11	5799194	5799194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaaagtgtaagacaaaGatatacaacaaatgtcaaac	21	7	7	6	0	2	2	2	0	0	2	2	3	2	3	0	1	3	1	0	1	8	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:5799194G>T	ENST00000317093.2	-	1	703	c.671C>A	c.(670-672)tCt>tAt	p.S224Y	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GTAAGACAAAGATATACAACA	0.443																																																	0													125	113	117					11																	5799194		2121	4085	6206	SO:0001583	missense	0			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"GPCR / Class A : Olfactory receptors"	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.671C>A	11.37:g.5799194G>T	ENSP00000322866:p.Ser224Tyr		B9EH12|Q6IFG2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.S224Y	ENST00000317093.2	37	c.671	CCDS31397.1	11	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323678	0.24080	.	.	ENSG00000181009	ENST00000317093	T	0.00091	8.74	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31020	U	0.008416	T	0.00412	0.0013	M	0.83774	2.66	0.09310	N	1	P	0.45474	0.859	P	0.55871	0.786	T	0.32903	-0.9889	10	0.72032	D	0.01	.	14.6034	0.68460	0.0:0.0:1.0:0.0	.	224	Q8NH56	O52N5_HUMAN	Y	224	ENSP00000322866:S224Y	ENSP00000322866:S224Y	S	-	2	0	OR52N5	5755770	0.000000	0.05858	0.045000	0.18777	0.448000	0.32197	0.242000	0.18087	2.075000	0.62263	0.508000	0.49915	TCT	OR52N5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181009		0.443	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N5	HGNC	protein_coding	OTTHUMT00000401141.1	-	0	17	0	G	NM_001001922		5799194	-1	tier1	-	no_errors	ENST00000317093	ensembl	human	known	74_37	missense	69.23	8	18	SNP	0.170	T	T	5799194	G	T	5799194	3	4	185	1	0	0	0	0	1	0	0	0	11169	942	33	3	307	3	OR52N5	11	5799194	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	831426	5799194	129207322	118	46232											
DNHD1	144132	genome.wustl.edu	37	chr11	6567757	6567757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattcttctctctagagcGtgagctggtgtctgggcccc	6	12	11	12	1	4	2	0	1	4	1	5	2	4	2	2	2	2	1	2	2	2	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:6567757G>A	ENST00000527990.2	+	19	5588	c.5588G>A	c.(5587-5589)cGt>cAt	p.R1863H	DNHD1_ENST00000254579.6_Missense_Mutation_p.R1863H			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1863					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)		TCTCTAGAGCGTGAGCTGGTG	0.572																																																	0													13	14	14					11																	6567757		692	1591	2283	SO:0001583	missense	0			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.5588G>A	11.37:g.6567757G>A	ENSP00000436180:p.Arg1863His		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.R1863H	ENST00000527990.2	37	c.5588	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241234	0.58995	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.10192	2.9;2.9	4.96	-1.59	0.08453	.	0.615312	0.15014	N	0.285393	T	0.09730	0.0239	L	0.52573	1.65	0.29148	N	0.878577	B	0.26081	0.141	B	0.17722	0.019	T	0.14008	-1.0488	10	0.45353	T	0.12	.	10.9993	0.47596	0.4699:0.0:0.5301:0.0	.	1863	Q96M86	DNHD1_HUMAN	H	1863;1863;154	ENSP00000254579:R1863H;ENSP00000436180:R1863H	ENSP00000254579:R1863H	R	+	2	0	DNHD1	6524333	0.015000	0.18098	0.902000	0.35471	0.979000	0.70002	-0.031000	0.12287	-0.159000	0.11021	-0.140000	0.14226	CGT	DNHD1	-	NULL	ENSG00000179532		0.572	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0	46	0	G	NM_144666		6567757	1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.800	A	A	6567757	G	A	6567757	3	1	185	1	0	0	0	0	1	0	0	0	4682	1145	40	1	5671	1	DNHD1	11	6567757	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	768563	6567757	128438759	119	46233											
MICAL2	9645	genome.wustl.edu	37	chr11	12241963	12241963	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgcgggagcggcaggcGcaccagctgctcgtggccct	4	6	17	14	4	0	0	0	0	0	0	1	1	0	1	2	5	4	4	2	5	0	0	rs377568326		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:12241963G>A	ENST00000256194.4	+	9	1452	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	MICAL2_ENST00000379612.3_Silent_p.A388A|MICAL2_ENST00000537344.1_Silent_p.A388A|MICAL2_ENST00000342902.5_Silent_p.A388A|MICAL2_ENST00000527546.1_Silent_p.A388A	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	388	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)		AGCGGCAGGCGCACCAGCTGC	0.582																																																	0								G		2,4400	4.2+/-10.8	0,2,2199	64	58	60		1164	-10.8	0	11		60	0,8588		0,0,4294	no	coding-synonymous	MICAL2	NM_014632.2		0,2,6493	AA,AG,GG		0.0,0.0454,0.0154		388/1125	12241963	2,12988	2201	4294	6495	SO:0001819	synonymous_variant	0			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.1164G>A	11.37:g.12241963G>A			B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.A388	ENST00000256194.4	37	c.1164	CCDS7809.1	11																																																																																			MICAL2	-	superfamily_CH-domain	ENSG00000133816		0.582	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1		0	30	0	G	NM_014632		12241963	1			no_errors	ENST00000256194	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.000	A	A	12241963	G	A	12241963	2	1	185	1	0	0	0	0	0	0	0	1	9608	1074	38	1		1	MICAL2	11	12241963	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	5674206	12241963	122764553	120	46234											
TEAD1	7003	genome.wustl.edu	37	chr11	12904607	12904607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcaaggtcgctccattGgcacaaccaagcttcgcctg	8	8	10	15	2	0	0	0	0	0	0	3	0	1	0	4	3	2	4	4	3	3	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:12904607G>A	ENST00000526600.1	+	4	569	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	TEAD1_ENST00000361985.2_Missense_Mutation_p.G212S|TEAD1_ENST00000527636.1_Missense_Mutation_p.G212S|TEAD1_ENST00000334310.6_Missense_Mutation_p.G201S|TEAD1_ENST00000527575.1_Missense_Mutation_p.G212S|TEAD1_ENST00000361905.4_Missense_Mutation_p.G197S			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	212					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TCGCTCCATTGGCACAACCAA	0.567																																																	0													122	106	111					11																	12904607		2200	4294	6494	SO:0001583	missense	0			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"atrophia areata, peripapillary chorioretinal degeneration"	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.346G>A	11.37:g.12904607G>A	ENSP00000435393:p.Gly116Ser		A4FUP2|E7EV65	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.G197S	ENST00000526600.1	37	c.589		11	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546327	0.86022	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.50333	1.59	0.80722	D	1	D;D;B	0.76494	0.999;0.961;0.237	D;P;B	0.74674	0.984;0.849;0.234	T	0.24368	-1.0162	10	0.27082	T	0.32	-5.6552	19.2007	0.93711	0.0:0.0:1.0:0.0	.	201;116;212	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	S	197;212;212;201;212;116	ENSP00000355332:G197S;ENSP00000435233:G212S;ENSP00000435977:G212S;ENSP00000334754:G201S;ENSP00000354588:G212S;ENSP00000435393:G116S	ENSP00000334754:G201S	G	+	1	0	TEAD1	12861183	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.625000	0.88918	0.655000	0.94253	GGC	TEAD1	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000187079		0.567	TEAD1-007	PUTATIVE	basic	protein_coding	TEAD1	HGNC	protein_coding	OTTHUMT00000387220.1	-	0	54	0	G	NM_021961		12904607	1	tier1	-	no_errors	ENST00000361905	ensembl	human	known	74_37	missense	24.36	59	19	SNP	1.000	A	A	12904607	G	A	12904607	3	1	185	1	0	0	0	0	1	0	0	0	15785	1348	47	3	660	3	TEAD1	11	12904607	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	662644	12904607	122101909	121	46235											
CCDC73	493860	genome.wustl.edu	37	chr11	32697568	32697568	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaactggaccttttgttcCtattttgaagagtaatttta	10	19	7	5	0	0	2	0	1	0	1	1	3	1	3	2	1	1	3	2	1	5	10			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:32697568C>A	ENST00000335185.5	-	8	473		c.e8-1		CCDC73_ENST00000534415.1_Splice_Site	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											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)					CCTTTTGTTCCTATTTTGAAG	0.318																																																	0													112	105	107					11																	32697568		1855	4084	5939	SO:0001630	splice_region_variant	0			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.430-1G>T	11.37:g.32697568C>A			Q6P5Q7|Q6ZMW0|Q86WE7	Splice_Site	SNP	-	e7-1	ENST00000335185.5	37	c.430-1	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709531	0.68730	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC73	32654144	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.677000	0.68142	2.788000	0.95919	0.585000	0.79938	.	CCDC73	-	-	ENSG00000186714		0.318	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2		0	32	0	C	NM_001008391	Intron	32697568	-1			no_errors	ENST00000335185	ensembl	human	known	74_37	splice_site	6.00	47	3	SNP	1.000	A	A	32697568	C	A	32697568	5	1	185	1	0	0	0	0	0	0	1	0	2853	695	24	3	2854	3	CCDC73	11	32697568	Splice_Site	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	19792961	32697568	102308948	122	46236											
FOLH1	2346	genome.wustl.edu	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	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	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y	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	0			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	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL	ENSG00000086205		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	60	0	A	NM_004476		49204790	-1	tier1	rs76509850	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	6.54	100	7	SNP	1.000	G	G	49204790	A	G	49204790	2	3	185	1	0	0	0	0	0	0	0	1	6001	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	16507222	49204790	85801726	123	46237											
OR4S2	219431	genome.wustl.edu	37	chr11	55419138	55419138	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctttttcggcccctgtacTtttatgtacatgcgccctga	6	16	7	12	2	1	1	0	1	1	0	2	1	1	1	3	1	3	2	3	1	3	6			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:55419138T>A	ENST00000312422.2	+	1	759	c.759T>A	c.(757-759)acT>acA	p.T253T		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	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)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GCCCCTGTACTTTTATGTACA	0.468																																																	0													162	135	145					11																	55419138		2180	4027	6207	SO:0001819	synonymous_variant	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.759T>A	11.37:g.55419138T>A			Q6IF72	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T253	ENST00000312422.2	37	c.759	CCDS31505.1	11																																																																																			OR4S2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174982		0.468	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	-	0	78	0	T	NM_001004059		55419138	1	tier1	-	no_errors	ENST00000312422	ensembl	human	known	74_37	silent	22.68	75	22	SNP	0.004	A	A	55419138	T	A	55419138	2	1	185	1	0	0	0	0	0	0	0	1	11122	1596	56	5		5	OR4S2	11	55419138	Silent	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	6214348	55419138	79587378	124	46238											
OR8I2	120586	genome.wustl.edu	37	chr11	55861318	55861318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatcaatcattttttttgtGacaccacagctcttttagca	10	16	5	10	0	3	1	2	1	1	0	3	1	3	1	1	0	2	3	1	0	2	6	rs140511525	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:55861318G>A	ENST00000302124.2	+	1	566	c.535G>A	c.(535-537)Gac>Aac	p.D179N		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|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)					TTTTTTTTGTGACACCACAGC	0.428																																																	0													155	146	149					11																	55861318		2201	4296	6497	SO:0001583	missense	0			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.535G>A	11.37:g.55861318G>A	ENSP00000303864:p.Asp179Asn		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D179N	ENST00000302124.2	37	c.535	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040087	0.75732	.	.	ENSG00000172154	ENST00000302124	T	0.00188	8.59	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	U	0.000755	T	0.00580	0.0019	M	0.78285	2.405	0.48341	D	0.999634	D	0.89917	1.0	D	0.87578	0.998	T	0.79300	-0.1860	10	0.87932	D	0	-12.1966	16.2092	0.82147	0.0:0.0:1.0:0.0	.	179	Q8N0Y5	OR8I2_HUMAN	N	179	ENSP00000303864:D179N	ENSP00000303864:D179N	D	+	1	0	OR8I2	55617894	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	6.935000	0.75886	2.115000	0.64714	0.440000	0.28878	GAC	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000172154		0.428	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		-	0	28	0	G	NM_001003750		55861318	1	tier1	rs140511525	no_errors	ENST00000302124	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	A	A	55861318	G	A	55861318	3	1	185	1	0	0	0	0	1	0	0	0	11279	1290	45	3	537	3	OR8I2	11	55861318	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	442180	55861318	79145198	125	46239											
SAPS3	55291	genome.wustl.edu	37	chr11	68315547	68315547	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctctagattgtggatttcTtaaagaagaagcatgatttt	12	17	8	4	0	2	4	0	1	2	3	3	5	2	5	0	1	1	1	0	1	5	7			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:68315547T>C	ENST00000393800.2	+	5	681	c.427T>C	c.(427-429)Tta>Cta	p.L143L	PPP6R3_ENST00000393801.3_Silent_p.L143L|PPP6R3_ENST00000534534.1_Silent_p.L52L|PPP6R3_ENST00000524845.1_Silent_p.L143L|PPP6R3_ENST00000265636.5_Silent_p.L143L|PPP6R3_ENST00000265637.4_Silent_p.L143L|PPP6R3_ENST00000529710.1_Silent_p.L143L|PPP6R3_ENST00000527403.2_Silent_p.L143L|PPP6R3_ENST00000393799.2_Silent_p.L143L|PPP6R3_ENST00000524904.1_Silent_p.L143L	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	143					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						TGTGGATTTCTTAAAGAAGAA	0.388																																																	0													104	100	101					11																	68315547		2200	4294	6494	SO:0001819	synonymous_variant	0			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.427T>C	11.37:g.68315547T>C			Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.L143	ENST00000393800.2	37	c.427	CCDS53672.1	11																																																																																			PPP6R3	-	pfam_SAPS,superfamily_ARM-type_fold	ENSG00000110075		0.388	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	-	0	91	0	T	NM_018312		68315547	1	tier1	-	no_errors	ENST00000393799	ensembl	human	known	74_37	silent	21.43	88	24	SNP	0.998	C	C	68315547	T	C	68315547	2	2	185	1	0	0	0	0	0	0	0	1	13883	1606	56	4		4	SAPS3	11	68315547	Silent	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	12454229	68315547	66690969	126	46240											
FCHSD2	9873	genome.wustl.edu	37	chr11	72552577	72552577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggctgctgggaggctggtCgtacaacggcagtggaggca	7	6	20	8	2	0	0	0	0	0	0	1	2	0	2	0	8	3	6	0	8	2	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:72552577C>T	ENST00000409418.4	-	18	2361	c.1978G>A	c.(1978-1980)Gac>Aac	p.D660N	FCHSD2_ENST00000409263.1_Missense_Mutation_p.D21N|FCHSD2_ENST00000311172.7_Missense_Mutation_p.D604N|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000458644.2_Missense_Mutation_p.D524N|FCHSD2_ENST00000409314.1_Missense_Mutation_p.D684N	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	660										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GGAGGCTGGTCGTACAACGGC	0.622																																																	0													50	42	45					11																	72552577		2200	4293	6493	SO:0001583	missense	0			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.1978G>A	11.37:g.72552577C>T	ENSP00000386722:p.Asp660Asn		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.D660N	ENST00000409418.4	37	c.1978	CCDS8218.2	11	.	.	.	.	.	.	.	.	.	.	C	36	5.758966	0.96898	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000409263;ENST00000458644	T;T;T;T	0.15139	2.46;2.57;2.59;2.45	5.66	5.66	0.87406	Src homology-3 domain (1);	0.282098	0.32563	N	0.005924	T	0.11153	0.0272	N	0.24115	0.695	0.80722	D	1	P;B	0.36483	0.555;0.105	B;B	0.26693	0.072;0.007	T	0.18745	-1.0327	10	0.13853	T	0.58	-14.4262	18.7299	0.91731	0.0:1.0:0.0:0.0	.	524;660	E7ENZ2;O94868	.;FCSD2_HUMAN	N	604;684;660;21;524	ENSP00000308978:D604N;ENSP00000386987:D684N;ENSP00000386722:D660N;ENSP00000402972:D524N	ENSP00000308978:D604N	D	-	1	0	FCHSD2	72230225	1.000000	0.71417	0.961000	0.40146	0.951000	0.60555	7.247000	0.78257	2.661000	0.90470	0.655000	0.94253	GAC	FCHSD2	-	superfamily_SH3_domain	ENSG00000137478		0.622	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	-	0	80	0	C	NM_014824		72552577	-1	tier1	-	no_errors	ENST00000409418	ensembl	human	known	74_37	missense	25.58	64	22	SNP	1.000	T	T	72552577	C	T	72552577	3	4	185	1	0	0	0	0	1	0	0	0	5812	884	31	1	256	1	FCHSD2	11	72552577	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	4237030	72552577	62453939	127	46241											
UCP2	7351	genome.wustl.edu	37	chr11	73686625	73686625	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcccagggcagagttcatGtatctcgtcttgaccacgtc	7	11	11	12	2	3	2	1	1	2	1	5	2	3	2	2	2	0	3	2	2	1	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:73686625G>T	ENST00000310473.3	-	7	1568	c.726C>A	c.(724-726)taC>taA	p.Y242*	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Intron	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	242					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)					CAGAGTTCATGTATCTCGTCT	0.592																																					Colon(191;388 2040 43557 45622 48925)												0													127	112	117					11																	73686625		2200	4293	6493	SO:0001587	stop_gained	0			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.726C>A	11.37:g.73686625G>T	ENSP00000312029:p.Tyr242*		Q4PJH8|Q53HM3	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.Y242*	ENST00000310473.3	37	c.726	CCDS8228.1	11	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173209	0.57584	.	.	ENSG00000175567	ENST00000310473;ENST00000544615;ENST00000545212	.	.	.	5.95	-1.38	0.09027	.	0.055744	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.1112	11.7641	0.51920	0.3632:0.0:0.6368:0.0	.	.	.	.	X	242;215;113	.	ENSP00000312029:Y242X	Y	-	3	2	UCP2	73364273	1.000000	0.71417	0.969000	0.41365	0.993000	0.82548	0.551000	0.23361	-0.569000	0.06030	-0.136000	0.14681	TAC	UCP2	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000175567		0.592	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP2	HGNC	protein_coding	OTTHUMT00000398108.1	-	0	46	0	G	NM_003355		73686625	-1	tier1	-	no_errors	ENST00000310473	ensembl	human	known	74_37	nonsense	26.92	38	14	SNP	1.000	T	T	73686625	G	T	73686625	4	4	185	1	0	0	0	0	0	1	0	0	16980	1372	48	3	211	3	UCP2	11	73686625	Nonsense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	1134048	73686625	61319891	128	46242											
STT3A	3703	genome.wustl.edu	37	chr11	125489995	125489995	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaagcatataccacaGaacattggctggtcaggata	14	8	12	7	0	1	1	1	0	0	1	1	4	1	4	1	5	3	2	1	5	5	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:125489995G>T	ENST00000529196.1	+	18	2259	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*	STT3A_ENST00000526364.1_3'UTR|STT3A_ENST00000392708.4_Nonsense_Mutation_p.E685*|STT3A_ENST00000531491.1_Nonsense_Mutation_p.E593*			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	685					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)		ATATACCACAGAACATTGGCT	0.433																																																	0													102	96	98					11																	125489995		2201	4299	6500	SO:0001587	stop_gained	0			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.2053G>T	11.37:g.125489995G>T	ENSP00000436962:p.Glu685*		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Nonsense_Mutation	SNP	pfam_Oligo_trans_STT3	p.E685*	ENST00000529196.1	37	c.2053	CCDS8458.1	11	.	.	.	.	.	.	.	.	.	.	G	41	8.731751	0.98933	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-22.9286	19.3767	0.94512	0.0:0.0:1.0:0.0	.	.	.	.	X	685;685;593	.	ENSP00000376472:E685X	E	+	1	0	STT3A	124995205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.781000	0.99029	2.735000	0.93741	0.655000	0.94253	GAA	STT3A	-	NULL	ENSG00000134910		0.433	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	STT3A	HGNC	protein_coding	OTTHUMT00000386691.1		0	63	0	G	NM_152713		125489995	1			no_errors	ENST00000392708	ensembl	human	known	74_37	nonsense	6.33	74	5	SNP	1.000	T	T	125489995	G	T	125489995	4	4	185	1	0	0	0	0	0	1	0	0	15380	943	33	3	2115	3	STT3A	11	125489995	Nonsense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	51803370	125489995	9516521	129	46243											
LRTM2	654429	genome.wustl.edu	37	chr12	1937326	1937326	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcaccatgctggcgccGggcagcagccctgggcagag	6	4	16	15	2	1	1	1	0	0	1	1	1	1	1	4	4	3	4	4	4	0	0	rs572336742	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:1937326G>T	ENST00000543818.1	+	3	854	c.12G>T	c.(10-12)ccG>ccT	p.P4P	LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Silent_p.P4P|LRTM2_ENST00000535041.1_Silent_p.P4P|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	4						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)			TGCTGGCGCCGGGCAGCAGCC	0.726																																																	0													7	8	8					12																	1937326		1831	3509	5340	SO:0001819	synonymous_variant	0			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.12G>T	12.37:g.1937326G>T			A7E2U6	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P4	ENST00000543818.1	37	c.12	CCDS31726.1	12																																																																																			LRTM2	-	NULL	ENSG00000166159		0.726	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	HGNC	protein_coding	OTTHUMT00000398055.1	-	0	18	0	G			1937326	1	tier1	-	no_errors	ENST00000299194	ensembl	human	known	74_37	silent	26.92	19	7	SNP	0.032	T	T	1937326	G	T	1937326	2	4	185	1	0	0	0	0	0	0	0	1	9080	1103	39	2		2	LRTM2	12	1937326	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09		1937326	131914569	130	46244											
C3AR1	719	genome.wustl.edu	37	chr12	8211653	8211653	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccaccaccacggccactcGaaaggttttgctctgagact	10	8	8	15	2	1	1	0	1	1	1	2	3	1	1	4	2	1	2	4	2	1	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:8211653G>A	ENST00000307637.4	-	2	1332	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	377					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)		ACGGCCACTCGAAAGGTTTTG	0.517																																																	0													62	57	59					12																	8211653		2203	4300	6503	SO:0001587	stop_gained	0			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.1129C>T	12.37:g.8211653G>A	ENSP00000302079:p.Arg377*		O43771|Q92868	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2	p.R377*	ENST00000307637.4	37	c.1129	CCDS8588.1	12	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857796	0.71834	.	.	ENSG00000171860	ENST00000307637	.	.	.	5.79	-3.19	0.05171	.	0.424009	0.17976	N	0.155684	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2753	0.54730	0.0716:0.0:0.1655:0.7629	.	.	.	.	X	377	.	ENSP00000302079:R377X	R	-	1	2	C3AR1	8102920	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	0.132000	0.15891	-0.181000	0.10619	0.655000	0.94253	CGA	C3AR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn	ENSG00000171860		0.517	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3AR1	HGNC	protein_coding	OTTHUMT00000400254.1	-	0	45	0	G			8211653	-1	tier1	-	no_errors	ENST00000307637	ensembl	human	known	74_37	nonsense	29.82	40	17	SNP	0.000	A	A	8211653	G	A	8211653	4	1	185	1	0	0	0	0	0	1	0	0	2212	1066	37	1	323	1	C3AR1	12	8211653	Nonsense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	6274327	8211653	125640242	131	46245											
OVCH1	341350	genome.wustl.edu	37	chr12	29628122	29628122	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacattccacaaagtttaGctgaaaaaattttaggaaag	18	11	6	6	0	1	1	1	1	0	0	2	2	2	2	1	1	2	2	1	1	8	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:29628122G>A	ENST00000318184.5	-	14	1471	c.1472C>T	c.(1471-1473)gCt>gTt	p.A491V	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	491	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)					ACAAAGTTTAGCTGAAAAAAT	0.279																																																	0													23	21	21					12																	29628122		1788	4054	5842	SO:0001630	splice_region_variant	0			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.1472-1C>T	12.37:g.29628122G>A				Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A491V	ENST00000318184.5	37	c.1472		12	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950806	0.53186	.	.	ENSG00000187950	ENST00000318184	T	0.19532	2.14	2.52	0.56	0.17279	CUB (5);	.	.	.	.	T	0.17789	0.0427	L	0.53780	1.695	0.18873	N	0.999986	B	0.31910	0.346	B	0.28385	0.089	T	0.17471	-1.0368	9	0.59425	D	0.04	.	6.3061	0.21139	0.1167:0.1888:0.6945:0.0	.	491	Q7RTY7	OVCH1_HUMAN	V	491	ENSP00000326708:A491V	ENSP00000326708:A491V	A	-	2	0	OVCH1	29519389	0.980000	0.34600	0.009000	0.14445	0.314000	0.28054	1.929000	0.40114	0.133000	0.18654	-0.474000	0.04947	GCT	OVCH1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000187950		0.279	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	-	0	51	0	G	NM_183378	Missense_Mutation	29628122	-1	tier1	-	no_errors	ENST00000318184	ensembl	human	known	74_37	missense	18.99	64	15	SNP	0.738	A	A	29628122	G	A	29628122	5	1	185	1	0	0	0	0	0	0	1	0	11362	985	34	3	1992	3	OVCH1	12	29628122	Splice_Site	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	21416469	29628122	104223773	132	46246											
VDR	7421	genome.wustl.edu	37	chr12	48240573	48240573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacttcagcagtacgatctgGtcctcagaggtgaggtctct	8	11	12	10	1	4	2	2	1	2	1	6	4	5	2	1	3	2	2	1	3	1	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:48240573G>T	ENST00000395324.2	-	8	1042	c.774C>A	c.(772-774)gaC>gaA	p.D258E	VDR_ENST00000549336.1_Missense_Mutation_p.D258E|VDR_ENST00000535672.1_Missense_Mutation_p.D226E|VDR_ENST00000550325.1_Missense_Mutation_p.D308E|VDR_ENST00000229022.3_Missense_Mutation_p.D258E			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	258	Ligand-binding.				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)	GTACGATCTGGTCCTCAGAGG	0.522																																																	0													151	116	128					12																	48240573		2203	4300	6503	SO:0001583	missense	0			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.774C>A	12.37:g.48240573G>T	ENSP00000378734:p.Asp258Glu		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D258E	ENST00000395324.2	37	c.774	CCDS8757.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027057	0.75390	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.99939	-8.36;-8.36;-8.36;-8.36;-8.36	5.23	4.33	0.51752	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.045078	0.85682	D	0.000000	D	0.99935	0.9971	H	0.94264	3.515	0.52099	D	0.999945	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.85130	0.992;0.997;0.962	D	0.96203	0.9147	10	0.87932	D	0	.	8.2484	0.31702	0.1812:0.0:0.8188:0.0	.	226;258;308	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	E	258;258;258;308;226	ENSP00000378734:D258E;ENSP00000229022:D258E;ENSP00000449573:D258E;ENSP00000447173:D308E;ENSP00000442145:D226E	ENSP00000229022:D258E	D	-	3	2	VDR	46526840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.833000	0.48159	1.344000	0.45657	0.655000	0.94253	GAC	VDR	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000111424		0.522	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	VDR	HGNC	protein_coding	OTTHUMT00000406433.1		0	36	0	G			48240573	-1			no_errors	ENST00000229022	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	48240573	G	T	48240573	3	4	185	1	0	0	0	0	1	0	0	0	17198	1252	44	3	521	3	VDR	12	48240573	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	18612451	48240573	85611322	133	46247											
DGKA	1606	genome.wustl.edu	37	chr12	56333042	56333042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcaagctgagtgggtccggGctggggccaccaccgtgcca	6	6	15	14	2	1	1	1	1	0	0	2	1	2	1	5	4	2	2	5	4	1	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:56333042G>A	ENST00000331886.5	+	8	1001	c.547G>A	c.(547-549)Gct>Act	p.A183T	DGKA_ENST00000551156.1_Missense_Mutation_p.A183T|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.A183T	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	183	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTGGGTCCGGGCTGGGGCCAC	0.537																																																	0													99	97	98					12																	56333042		2203	4300	6503	SO:0001583	missense	0			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.547G>A	12.37:g.56333042G>A	ENSP00000328405:p.Ala183Thr		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.A183T	ENST00000331886.5	37	c.547	CCDS8896.1	12	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057584	0.55325	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	T;T;T;T	0.69040	1.46;-0.37;1.46;1.46	5.03	4.13	0.48395	EF-hand-like domain (1);	0.055638	0.64402	D	0.000001	T	0.67316	0.2880	L	0.34521	1.04	0.44562	D	0.997526	P;P;P;P	0.51537	0.946;0.69;0.932;0.563	P;P;P;B	0.54060	0.741;0.614;0.476;0.315	T	0.71998	-0.4423	10	0.87932	D	0	.	14.1067	0.65093	0.0:0.0:0.848:0.152	.	183;102;183;183	Q3ZE25;G3V4E1;B4E0C6;P23743	.;.;.;DGKA_HUMAN	T	183;102;183;183	ENSP00000328405:A183T;ENSP00000451743:A102T;ENSP00000377703:A183T;ENSP00000450359:A183T	ENSP00000328405:A183T	A	+	1	0	DGKA	54619309	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	9.297000	0.96120	1.478000	0.48253	-0.282000	0.10007	GCT	DGKA	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000065357		0.537	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKA	HGNC	protein_coding	OTTHUMT00000407291.1		0	44	0	G			56333042	1			no_errors	ENST00000331886	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	A	A	56333042	G	A	56333042	3	1	185	1	0	0	0	0	1	0	0	0	4479	1203	42	3	573	3	DGKA	12	56333042	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	8092469	56333042	77518853	134	46248											
NUP107	57122	genome.wustl.edu	37	chr12	69103086	69103086	+	Missense_Mutation	SNP	T	T	A	0	1	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	gattcacttgttcgacaaagTcaggtatgactagaatttaa	14	13	8	6	1	2	2	2	1	0	1	3	4	2	2	0	1	0	2	0	1	5	7			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:69103086T>A	ENST00000229179.4	+	9	1130	c.798T>A	c.(796-798)agT>agA	p.S266R	NUP107_ENST00000378905.2_Missense_Mutation_p.S115R|NUP107_ENST00000539906.1_Missense_Mutation_p.S237R	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	266					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTCGACAAAGTCAGGTATGAC	0.299																																																	0													66	77	73					12																	69103086		2203	4297	6500	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.798T>A	12.37:g.69103086T>A	ENSP00000229179:p.Ser266Arg		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.S266R	ENST00000229179.4	37	c.798	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	T	19.86	3.906439	0.72868	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.1	1.46	0.22682	.	0.077238	0.85682	D	0.000000	T	0.66396	0.2785	M	0.68952	2.095	0.58432	D	0.999999	P;D;P	0.69078	0.919;0.997;0.842	P;D;P	0.64410	0.807;0.925;0.713	T	0.63116	-0.6709	8	.	.	.	-3.5057	7.6657	0.28430	0.0:0.3914:0.0:0.6086	.	237;115;266	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	R	266;115;237	.	.	S	+	3	2	NUP107	67389353	0.991000	0.36638	1.000000	0.80357	0.990000	0.78478	0.148000	0.16224	0.367000	0.24454	0.482000	0.46254	AGT	NUP107	-	pfam_Nup84_Nup100	ENSG00000111581		0.299	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	-	0	29	0	T	NM_020401		69103086	1	tier1	-	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	15.25	50	9	SNP	1.000	A	A	69103086	T	A	69103086	3	1	185	1	0	0	0	0	1	0	0	0	10792	1664	58	5	832	5	NUP107	12	69103086	Missense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	12770044	69103086	64748809	135	46249											
SLC5A8	160728	genome.wustl.edu	37	chr12	101598288	101598288	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctacttactgtttgaacaAtgaagaggactgttccacag	13	11	9	8	0	0	3	0	2	0	1	1	4	1	4	1	1	4	3	1	1	5	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:101598288A>G	ENST00000536262.2	-	2	965	c.407T>C	c.(406-408)aTt>aCt	p.I136T		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						TGTTTGAACAATGAAGAGGAC	0.338																																					GBM(60;420 1056 13605 22380 47675)												0													65	65	65					12																	101598288		2203	4299	6502	SO:0001583	missense	0			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.407T>C	12.37:g.101598288A>G	ENSP00000445340:p.Ile136Thr			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.I136T	ENST00000536262.2	37	c.407	CCDS9080.1	12	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316807	0.81469	.	.	ENSG00000256870	ENST00000536262	D	0.89552	-2.53	5.66	5.66	0.87406	.	0.043301	0.85682	D	0.000000	D	0.92041	0.7478	L	0.48986	1.54	0.80722	D	1	D	0.57257	0.979	D	0.64410	0.925	D	0.91586	0.5283	10	0.41790	T	0.15	.	15.888	0.79269	1.0:0.0:0.0:0.0	.	136	Q8N695	SC5A8_HUMAN	T	136	ENSP00000445340:I136T	ENSP00000445340:I136T	I	-	2	0	SLC5A8	100122419	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.339000	0.96797	2.161000	0.67846	0.454000	0.30748	ATT	SLC5A8	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000256870		0.338	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	HGNC	protein_coding	OTTHUMT00000409401.1	-	0	86	0	A	NM_145913		101598288	-1	tier1	-	no_errors	ENST00000536262	ensembl	human	known	74_37	missense	21.18	67	18	SNP	0.999	G	G	101598288	A	G	101598288	3	3	185	1	0	0	0	0	1	0	0	0	14716	101	4	4	1481	4	SLC5A8	12	101598288	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	32495202	101598288	32253607	136	46250											
STAB2	55576	genome.wustl.edu	37	chr12	104031922	104031922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtgtgcttgcctgtggacCcctgccaaattaactttgga	9	12	10	10	0	0	0	0	0	0	0	0	2	0	2	4	2	4	1	4	2	3	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:104031922C>T	ENST00000388887.2	+	8	1042	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S		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						GCCTGTGGACCCCTGCCAAAT	0.507																																																	0													126	110	116					12																	104031922		2203	4300	6503	SO:0001583	missense	0			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.838C>T	12.37:g.104031922C>T	ENSP00000373539:p.Pro280Ser			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.P280S	ENST00000388887.2	37	c.838	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044564	0.75732	.	.	ENSG00000136011	ENST00000388887	T	0.10860	2.83	5.47	5.47	0.80525	.	0.124710	0.53938	D	0.000041	T	0.27629	0.0679	M	0.75264	2.295	0.48395	D	0.999648	D	0.65815	0.995	P	0.53809	0.735	T	0.00852	-1.1540	10	0.40728	T	0.16	.	18.9373	0.92590	0.0:1.0:0.0:0.0	.	280	Q8WWQ8	STAB2_HUMAN	S	280	ENSP00000373539:P280S	ENSP00000373539:P280S	P	+	1	0	STAB2	102556052	0.998000	0.40836	1.000000	0.80357	0.530000	0.34684	6.282000	0.72639	2.567000	0.86603	0.655000	0.94253	CCC	STAB2	-	NULL	ENSG00000136011		0.507	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1		0	49	0	C			104031922	1			no_errors	ENST00000388887	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	104031922	C	T	104031922	3	4	185	1	0	0	0	0	1	0	0	0	15285	623	22	3	868	3	STAB2	12	104031922	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	2433634	104031922	29819973	137	46251											
GCN1L1	10985	genome.wustl.edu	37	chr12	120578793	120578793	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggattttctcccctaacTtccgcacaagatctcccaat	10	11	6	14	1	2	1	0	0	2	1	5	3	3	3	4	2	1	1	4	2	3	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:120578793T>G	ENST00000300648.6	-	45	5876	c.5864A>C	c.(5863-5865)aAg>aCg	p.K1955T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1955					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)					CTCCCCTAACTTCCGCACAAG	0.542																																																	0													148	148	148					12																	120578793		1998	4186	6184	SO:0001583	missense	0			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.5864A>C	12.37:g.120578793T>G	ENSP00000300648:p.Lys1955Thr		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.K1955T	ENST00000300648.6	37	c.5864	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665360	0.67700	.	.	ENSG00000089154	ENST00000300648	T	0.64991	-0.13	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82495	0.5049	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86621	0.1879	10	0.87932	D	0	.	14.9328	0.70929	0.0:0.0:0.0:1.0	.	1955	Q92616	GCN1L_HUMAN	T	1955	ENSP00000300648:K1955T	ENSP00000300648:K1955T	K	-	2	0	GCN1L1	119063176	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	7.390000	0.79816	1.926000	0.55796	0.379000	0.24179	AAG	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.542	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	-	0	52	0	T			120578793	-1	tier1	-	no_errors	ENST00000300648	ensembl	human	known	74_37	missense	9.43	48	5	SNP	1.000	G	G	120578793	T	G	120578793	3	3	185	1	0	0	0	0	1	0	0	0	6324	1609	56	4	2207	4	GCN1L1	12	120578793	Missense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	16546871	120578793	13273102	138	46252											
LRRC43	254050	genome.wustl.edu	37	chr12	122684775	122684775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccacaagccctgggctgaGgtcatcccctgcagttacga	8	7	11	15	1	1	1	1	1	0	0	2	2	2	1	4	2	3	3	4	2	2	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:122684775G>T	ENST00000339777.4	+	8	1417	c.1389G>T	c.(1387-1389)gaG>gaT	p.E463D	LRRC43_ENST00000425921.1_Missense_Mutation_p.E278D	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	463								p.E278D(1)|p.E463D(1)		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)		CCTGGGCTGAGGTCATCCCCT	0.652																																																	2	Substitution - Missense(2)	lung(2)											110	116	114					12																	122684775		2113	4219	6332	SO:0001583	missense	0			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.1389G>T	12.37:g.122684775G>T	ENSP00000344233:p.Glu463Asp		Q6ZVT9	Missense_Mutation	SNP	NULL	p.E463D	ENST00000339777.4	37	c.1389	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.171489	0.00315	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.56103	0.48;0.91	4.85	-5.55	0.02536	.	0.600314	0.16377	N	0.217057	T	0.17619	0.0423	N	0.03281	-0.365	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33523	-0.9865	10	0.02654	T	1	-17.806	7.8039	0.29191	0.0:0.2489:0.3968:0.3543	.	463	Q8N309	LRC43_HUMAN	D	463;334;278	ENSP00000344233:E463D;ENSP00000416628:E278D	ENSP00000289014:E334D	E	+	3	2	LRRC43	121250728	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-3.189000	0.00565	-1.155000	0.02822	-0.344000	0.07964	GAG	LRRC43	-	NULL	ENSG00000158113		0.652	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1		0	31	0	G	NM_152759		122684775	1			no_errors	ENST00000339777	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.003	T	T	122684775	G	T	122684775	3	4	185	1	0	0	0	0	1	0	0	0	9036	991	35	3	1419	3	LRRC43	12	122684775	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	2105982	122684775	11167120	139	46253											
GPR109A	338442	genome.wustl.edu	37	chr12	123187350	123187350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcttcttcttcaggaggtGgactgtcaggccaatagtga	9	12	11	9	0	5	1	2	1	3	0	5	3	5	3	1	4	0	0	1	4	2	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:123187350G>A	ENST00000328880.5	-	1	540	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	161					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)	TTCAGGAGGTGGACTGTCAGG	0.552																																																	0													114	99	104					12																	123187350		2203	4300	6503	SO:0001583	missense	0			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.481C>T	12.37:g.123187350G>A	ENSP00000375066:p.His161Tyr		A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.H161Y	ENST00000328880.5	37	c.481	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.774925	0.00640	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.36340	1.26	4.69	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.084915	0.47852	D	0.000206	T	0.17746	0.0426	N	0.04203	-0.255	0.24470	N	0.994394	B	0.24317	0.101	B	0.35688	0.208	T	0.18116	-1.0347	10	0.30854	T	0.27	-31.079	4.7929	0.13257	0.1866:0.179:0.6344:0.0	.	161	Q8TDS4	HCAR2_HUMAN	Y	161	ENSP00000375066:H161Y	ENSP00000375066:H161Y	H	-	1	0	HCAR2	121753303	0.981000	0.34729	0.712000	0.30502	0.384000	0.30261	1.996000	0.40776	0.876000	0.35872	0.655000	0.94253	CAC	HCAR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182782		0.552	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	-	0	45	0	G	NM_177551		123187350	-1	tier1	-	no_errors	ENST00000328880	ensembl	human	known	74_37	missense	25.86	43	15	SNP	0.427	A	A	123187350	G	A	123187350	3	1	185	1	0	0	0	0	1	0	0	0	6651	1348	47	3	614	3	GPR109A	12	123187350	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	502575	123187350	10664545	140	46254											
RILPL2	196383	genome.wustl.edu	37	chr12	123907611	123907613	+	In_Frame_Del	DEL	CTC	CTC	-																															agcttttttatgattgtcttCtcctccttgttcctgccagc																										TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:123907611_123907613delCTC	ENST00000280571.8	-	3	879_881	c.583_585delGAG	c.(583-585)gagdel	p.E195del		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	195					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		TGATTGTCTTCTCCTCCTTGTTC	0.502																																																	0																																										SO:0001651	inframe_deletion	0			AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.583_585delGAG	12.37:g.123907614_123907616delCTC	ENSP00000280571:p.Glu195del			In_Frame_Del	DEL	pfam_RILP	p.E195in_frame_del	ENST00000280571.8	37	c.585_583	CCDS9248.1	12																																																																																			RILPL2	-	NULL	ENSG00000150977		0.502	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RILPL2	HGNC	protein_coding			0	87	0	CTC	NM_145058		123907613	-1			no_errors	ENST00000280571	ensembl	human	known	74_37	in_frame_del	6.17	76	5	DEL	1.000:1.000:0.998	0	-	123907613	CTC	-	123907611	7	5	185	1	0	1	0	1	0	0	0	0	13407	912	32	0	58	0	RILPL2	12	123907611	In_Frame_Del	DEL	CTC	TCGA-ZR-A9CJ-01B-11D-A387-09	720261	123907611	9944284	141	46255											
ZNF664	144348	genome.wustl.edu	37	chr12	124497178	124497178	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcctctgcatgcatcaaAgagtccacacaggagagaaa	15	5	9	12	0	2	2	1	0	1	2	3	4	3	3	3	1	3	2	3	1	2	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:124497178A>C	ENST00000539644.1	+	6	2317	c.487A>C	c.(487-489)Aga>Cga	p.R163R	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Silent_p.R163R|ZNF664_ENST00000392404.3_Silent_p.R163R|ZNF664_ENST00000538932.2_Silent_p.R163R			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	163					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(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		CATGCATCAAAGAGTCCACAC	0.517																																																	0													86	92	90					12																	124497178		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"Zinc fingers, C2H2-type"	25406	protein-coding gene	gene with protein product			"zinc finger protein 176"	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.487A>C	12.37:g.124497178A>C			B3KP97|Q15914|Q3ZCQ7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R163	ENST00000539644.1	37	c.487	CCDS9257.1	12																																																																																			ZNF664	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179195		0.517	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF664	HGNC	protein_coding	OTTHUMT00000400365.1	-	0	83	0	A	NM_152437		124497178	1	tier1	-	no_errors	ENST00000337815	ensembl	human	known	74_37	silent	18.57	57	13	SNP	0.945	C	C	124497178	A	C	124497178	2	2	185	1	0	0	0	0	0	0	0	1	18120	64	3	4		4	ZNF664	12	124497178	Silent	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	589567	124497178	9354717	142	46256											
SACS	26278	genome.wustl.edu	37	chr13	23908710	23908710	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggagaggaaaatgtcattAaaaaagatctgatatcagca	19	8	9	5	0	3	3	2	1	1	2	3	5	3	4	0	2	1	1	0	2	6	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:23908710A>T	ENST00000382292.3	-	9	9578	c.9305T>A	c.(9304-9306)tTa>tAa	p.L3102*	SACS_ENST00000402364.1_Nonsense_Mutation_p.L2352*|SACS_ENST00000382298.3_Nonsense_Mutation_p.L3102*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3102					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)		AAATGTCATTAAAAAAGATCT	0.353																																																	0													53	52	52					13																	23908710		2203	4300	6503	SO:0001587	stop_gained	0			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.9305T>A	13.37:g.23908710A>T	ENSP00000371729:p.Leu3102*		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.L3102*	ENST00000382292.3	37	c.9305	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	A	57	29.935795	0.99976	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0506	0.80760	1.0:0.0:0.0:0.0	.	.	.	.	X	3102;2352;3102	.	ENSP00000371729:L3102X	L	-	2	0	SACS	22806710	1.000000	0.71417	0.844000	0.33320	0.985000	0.73830	8.962000	0.93254	2.189000	0.69895	0.454000	0.30748	TTA	SACS	-	NULL	ENSG00000151835		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	32	0	A	NM_014363		23908710	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	nonsense	35.14	24	13	SNP	1.000	T	T	23908710	A	T	23908710	4	4	185	1	0	0	0	0	0	1	0	0	13849	372	13	5	4438	5	SACS	13	23908710	Nonsense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09		23908710	91261168	143	46257											
WASF3	10810	genome.wustl.edu	37	chr13	27256996	27256996	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccctcctggtcccgggtcTtctctttcgtcctccccaat	2	13	8	18	2	2	0	0	0	2	0	8	0	6	0	6	3	0	0	6	3	1	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:27256996T>G	ENST00000335327.5	+	9	1414	c.1236T>G	c.(1234-1236)tcT>tcG	p.S412S	WASF3_ENST00000361042.4_Silent_p.S409S	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	412					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GTCCCGGGTCTTCTCTTTCGT	0.687																																																	0													46	57	53					13																	27256996		2192	4286	6478	SO:0001819	synonymous_variant	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1236T>G	13.37:g.27256996T>G			O94974|Q86VQ2	Silent	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.S412	ENST00000335327.5	37	c.1236	CCDS9318.1	13																																																																																			WASF3	-	NULL	ENSG00000132970		0.687	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	-	0	90	0	T			27256996	1	tier1	-	no_errors	ENST00000335327	ensembl	human	known	74_37	silent	36.56	59	34	SNP	0.924	G	G	27256996	T	G	27256996	2	3	185	1	0	0	0	0	0	0	0	1	17303	1596	56	4		4	WASF3	13	27256996	Silent	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	3348286	27256996	87912882	144	46258											
POSTN	10631	genome.wustl.edu	37	chr13	38154786	38154786	+	Nonsense_Mutation	SNP	T	T	A	0	1	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	tatgtgaatcgcaccgtttcTcccttgcttactccctttct	5	17	5	14	2	2	1	0	1	2	0	5	1	3	1	3	0	2	3	3	0	3	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:38154786T>A	ENST00000379747.4	-	11	1558	c.1441A>T	c.(1441-1443)Aga>Tga	p.R481*	POSTN_ENST00000379743.4_Nonsense_Mutation_p.R481*|POSTN_ENST00000541179.1_Nonsense_Mutation_p.R481*|POSTN_ENST00000541481.1_Nonsense_Mutation_p.R481*|POSTN_ENST00000379742.4_Nonsense_Mutation_p.R481*|POSTN_ENST00000379749.4_Nonsense_Mutation_p.R481*	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	481	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GCACCGTTTCTCCCTTGCTTA	0.423																																																	0													274	252	260					13																	38154786		2203	4300	6503	SO:0001587	stop_gained	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1441A>T	13.37:g.38154786T>A	ENSP00000369071:p.Arg481*		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Nonsense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.R481*	ENST00000379747.4	37	c.1441	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	T	34	5.341472	0.95783	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.03	2.35	0.29111	.	0.178761	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-25.3404	11.6471	0.51267	0.0:0.0:0.2813:0.7187	.	.	.	.	X	481	.	ENSP00000369066:R481X	R	-	1	2	POSTN	37052786	0.999000	0.42202	0.980000	0.43619	0.221000	0.24807	2.401000	0.44513	0.836000	0.34901	0.460000	0.39030	AGA	POSTN	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.423	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0	103	0	T	NM_006475		38154786	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	nonsense	15.13	128	23	SNP	1.000	A	A	38154786	T	A	38154786	4	1	185	1	0	0	0	0	0	1	0	0	12298	1559	54	5	1121	5	POSTN	13	38154786	Nonsense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	10897790	38154786	77015092	145	46259											
TDRD3	81550	genome.wustl.edu	37	chr13	61102581	61102581	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatggagtaaaagataatAatcatctgagacatcctcct	18	10	6	7	0	2	2	1	1	1	2	4	4	4	3	2	1	0	1	2	1	6	3	rs76903991	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:61102581A>C	ENST00000196169.3	+	11	1731	c.943A>C	c.(943-945)Aat>Cat	p.N315H	TDRD3_ENST00000535286.1_Missense_Mutation_p.N408H|TDRD3_ENST00000377894.2_Missense_Mutation_p.N315H|TDRD3_ENST00000377881.2_Missense_Mutation_p.N315H	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	315					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAAAGATAATAATCATCTGAG	0.388																																					Colon(36;164 906 35820 50723)												0													102	99	100					13																	61102581		2203	4300	6503	SO:0001583	missense	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.943A>C	13.37:g.61102581A>C	ENSP00000196169:p.Asn315His		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.N408H	ENST00000196169.3	37	c.1222	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	A	11.67	1.707648	0.30322	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.94092	-3.34;-3.34;-3.34;-3.35	6.06	4.87	0.63330	.	0.402146	0.29853	N	0.011038	D	0.94377	0.8192	L	0.56769	1.78	0.24546	N	0.994044	P;P;P	0.52170	0.951;0.853;0.814	P;P;B	0.56127	0.792;0.629;0.376	D	0.89130	0.3509	10	0.62326	D	0.03	-10.1728	12.7574	0.57343	0.8769:0.0:0.0:0.1231	.	408;314;315	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	H	315;315;315;408	ENSP00000196169:N315H;ENSP00000367113:N315H;ENSP00000367126:N315H;ENSP00000440190:N408H	ENSP00000196169:N315H	N	+	1	0	TDRD3	60000582	1.000000	0.71417	0.626000	0.29213	0.500000	0.33767	6.302000	0.72788	1.091000	0.41335	0.528000	0.53228	AAT	TDRD3	-	NULL	ENSG00000083544		0.388	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2		0	48	0	A	NM_030794		61102581	1			no_errors	ENST00000535286	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.925	C	C	61102581	A	C	61102581	3	2	185	1	0	0	0	0	1	0	0	0	15779	362	13	4	1264	4	TDRD3	13	61102581	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	22947795	61102581	54067297	146	46260											
PCDH9	5101	genome.wustl.edu	37	chr13	67802557	67802557	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagcagccaacaggtaaaAatccctcaggtccatgataa	16	6	8	11	0	1	2	1	1	0	1	3	2	3	2	3	2	3	2	3	2	5	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:67802557A>T	ENST00000377865.2	-	1	150	c.16T>A	c.(16-18)Ttt>Att	p.F6I	PCDH9_ENST00000377861.3_Missense_Mutation_p.F6I|PCDH9_ENST00000456367.1_Missense_Mutation_p.F6I|PCDH9_ENST00000328454.5_Missense_Mutation_p.F6I|PCDH9_ENST00000544246.1_Missense_Mutation_p.F6I			Q9HC56	PCDH9_HUMAN	protocadherin 9	6					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACAGGTAAAAATCCCTCAGG	0.398																																																	0													55	56	56					13																	67802557		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.16T>A	13.37:g.67802557A>T	ENSP00000367096:p.Phe6Ile		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F6I	ENST00000377865.2	37	c.16	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	A	11.33	1.608041	0.28623	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52295	0.73;0.73;0.67;0.67;0.69	5.82	4.65	0.58169	.	0.312770	0.39985	N	0.001220	T	0.27384	0.0672	N	0.08118	0	0.46185	D	0.998915	B;B;B;B	0.25235	0.003;0.087;0.118;0.121	B;B;B;B	0.26517	0.004;0.048;0.07;0.035	T	0.05954	-1.0854	10	0.22109	T	0.4	.	11.7481	0.51832	0.9313:0.0:0.0687:0.0	.	6;6;6;6	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	I	6	ENSP00000442186:F6I;ENSP00000367096:F6I;ENSP00000401699:F6I;ENSP00000332060:F6I;ENSP00000367092:F6I	ENSP00000332060:F6I	F	-	1	0	PCDH9	66700558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.148000	0.77389	1.038000	0.40049	-0.256000	0.11100	TTT	PCDH9	-	NULL	ENSG00000184226		0.398	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	86	0	A	NM_203487		67802557	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	39.47	69	45	SNP	1.000	T	T	67802557	A	T	67802557	3	4	185	1	0	0	0	0	1	0	0	0	11557	14	1	5	3713	5	PCDH9	13	67802557	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	6699976	67802557	47367321	147	46261											
SLITRK1	114798	genome.wustl.edu	37	chr13	84454326	84454326	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccccgcgaatttctcccgGgacagcgtgtccaggtaatt	8	9	11	13	4	1	0	0	0	1	0	3	2	2	1	4	2	2	1	4	2	2	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:84454326G>A	ENST00000377084.2	-	1	2202	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	439					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)		ATTTCTCCCGGGACAGCGTGT	0.502																																																	0													124	117	120					13																	84454326		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1317C>T	13.37:g.84454326G>A			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S439	ENST00000377084.2	37	c.1317	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000178235		0.502	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	-	0	48	0	G	NM_052910		84454326	-1	tier1	-	no_errors	ENST00000377084	ensembl	human	known	74_37	silent	17.02	39	8	SNP	1.000	A	A	84454326	G	A	84454326	2	1	185	1	0	0	0	0	0	0	0	1	14787	1219	43	3		3	SLITRK1	13	84454326	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	16651769	84454326	30715552	148	46262											
GPC6	10082	genome.wustl.edu	37	chr13	94482417	94482417	+	Silent	SNP	A	A	G	1	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	ttatctgcagaatttttccgAgagctcctggagaatgcaga	11	12	10	8	1	1	4	0	0	1	4	3	6	3	4	2	1	3	3	2	1	3	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:94482417A>G	ENST00000377047.4	+	3	945	c.330A>G	c.(328-330)cgA>cgG	p.R110R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	110					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)				AATTTTTCCGAGAGCTCCTGG	0.388																																																	0													36	37	36					13																	94482417		2203	4299	6502	SO:0001819	synonymous_variant	0			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.330A>G	13.37:g.94482417A>G			A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	pfam_Glypican	p.R110	ENST00000377047.4	37	c.330	CCDS9469.1	13																																																																																			GPC6	-	pfam_Glypican	ENSG00000183098		0.388	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	-	0	54	0	A	NM_005708		94482417	1	tier1	-	no_errors	ENST00000377047	ensembl	human	known	74_37	silent	30.59	59	26	SNP	1.000	G	G	94482417	A	G	94482417	2	3	185	1	0	0	0	0	0	0	0	1	6628	291	11	4		4	GPC6	13	94482417	Silent	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	10028091	94482417	20687461	149	46263											
CEBPE	1053	genome.wustl.edu	37	chr14	23586975	23586975	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtgtaaggggccagcCggggagggcgccttcaggag	6	6	18	11	2	1	0	1	0	0	0	1	2	1	2	4	6	1	1	4	6	1	3	rs373251741		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr14:23586975C>T	ENST00000206513.5	-	2	1091	c.567G>A	c.(565-567)ccG>ccA	p.P189P		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	189					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)		AGGGGCCAGCCGGGGAGGGCG	0.662													C|||	1	0.000199681	0	0	5008	,	,		15965	0		0	False		,,,				2504	0.001				NSCLC(63;1230 1818 14565 22565)												0								C		1,4403		0,1,2201	42	47	45		567	-10.4	0	14		45	0,8590		0,0,4295	no	coding-synonymous	CEBPE	NM_001805.2		0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		189/282	23586975	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	0				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.567G>A	14.37:g.23586975C>T			Q15745|Q8IYI2|Q99803	Silent	SNP	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.P189	ENST00000206513.5	37	c.567	CCDS9589.1	14																																																																																			CEBPE	-	pirsf_CCAAT/enhancer-binding	ENSG00000092067		0.662	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPE	HGNC	protein_coding	OTTHUMT00000071716.2	-	0	58	0	C	NM_001805		23586975	-1	tier1	-	no_errors	ENST00000206513	ensembl	human	known	74_37	silent	30.77	36	16	SNP	0.004	T	T	23586975	C	T	23586975	2	4	185	1	0	0	0	0	0	0	0	1	3209	639	23	1		1	CEBPE	14	23586975	Silent	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09		23586975	83762565	150	46264											
MTHFD1	4522	genome.wustl.edu	37	chr14	64882088	64882088	+	Missense_Mutation	SNP	A	A	G	1	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	acttttaggtgatgaagtacAttacatctttgaatgaagac	14	14	8	5	0	1	5	0	4	1	1	1	5	1	5	0	1	2	1	0	1	6	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr14:64882088A>G	ENST00000545908.1	+	5	650	c.421A>G	c.(421-423)Att>Gtt	p.I141V	MTHFD1_ENST00000216605.8_Missense_Mutation_p.I85V			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	85	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GATGAAGTACATTACATCTTT	0.338																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)												0													133	127	129					14																	64882088		2203	4300	6503	SO:0001583	missense	0			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.421A>G	14.37:g.64882088A>G	ENSP00000438588:p.Ile141Val		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.I85V	ENST00000545908.1	37	c.253		14	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854953	0.32791	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.27557	2.39;2.44;2.41;1.66	4.96	-1.76	0.08006	Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site (1);Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.345659	0.32106	N	0.006576	T	0.16257	0.0391	N	0.24115	0.695	0.09310	N	0.999998	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.005;0.002	T	0.24225	-1.0166	10	0.21540	T	0.41	-2.4554	9.9189	0.41453	0.6271:0.0:0.3729:0.0	.	141;85;85	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	V	141;85;141;65	ENSP00000438588:I141V;ENSP00000450560:I85V;ENSP00000216605:I141V;ENSP00000451309:I65V	ENSP00000216605:I85V	I	+	1	0	MTHFD1	63951841	0.516000	0.26218	0.000000	0.03702	0.816000	0.46133	1.249000	0.32839	-0.238000	0.09724	0.374000	0.22700	ATT	MTHFD1	-	pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	ENSG00000100714		0.338	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	MTHFD1	HGNC	protein_coding	OTTHUMT00000412167.1	-	0	62	0	A			64882088	1	tier1	-	no_errors	ENST00000216605	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.028	G	G	64882088	A	G	64882088	3	3	185	1	0	0	0	0	1	0	0	0	9965	217	8	4	271	4	MTHFD1	14	64882088	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	41295113	64882088	42467452	151	46265											
PAPLN	89932	genome.wustl.edu	37	chr14	73730411	73730411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccctggggcagttggtgCggctctcctgctcagacgac	5	8	14	14	2	2	1	1	0	1	1	3	2	2	1	2	4	3	4	2	4	0	1	rs139258651	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr14:73730411C>T	ENST00000554301.1	+	19	2945	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	PAPLN_ENST00000340738.5_Missense_Mutation_p.R901W|PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000381166.3_Missense_Mutation_p.R928W|PAPLN_ENST00000427855.1_Missense_Mutation_p.R928W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R912W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	928	Ig-like C2-type 1.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.R901G(1)|p.R928G(1)		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)		GCAGTTGGTGCGGCTCTCCTG	0.637																																																	2	Substitution - Missense(2)	pancreas(2)											80	76	77					14																	73730411		2203	4300	6503	SO:0001583	missense	0			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.2782C>T	14.37:g.73730411C>T	ENSP00000451803:p.Arg928Trp		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m	p.R928W	ENST00000554301.1	37	c.2782		14	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668535	0.47677	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	4.9	2.05	0.26809	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49525	0.1562	M	0.75085	2.285	0.09310	N	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	P;D;P;D;P	0.70935	0.905;0.943;0.899;0.971;0.899	T	0.28299	-1.0048	9	0.54805	T	0.06	.	6.7598	0.23534	0.1331:0.6686:0.1281:0.0701	.	912;928;928;127;901	O95428-5;O95428;O95428-4;O95428-2;O95428-6	.;PPN_HUMAN;.;.;.	W	901;928;928;928;912	ENSP00000345395:R901W;ENSP00000403403:R928W;ENSP00000370558:R928W;ENSP00000451803:R928W;ENSP00000451729:R912W	ENSP00000345395:R901W	R	+	1	2	PAPLN	72800164	0.374000	0.25081	0.005000	0.12908	0.002000	0.02628	3.378000	0.52432	0.251000	0.21505	-1.105000	0.02106	CGG	PAPLN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000100767		0.637	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1		0	43	0	C	NM_173462		73730411	1			no_errors	ENST00000427855	ensembl	human	known	74_37	missense	5.45	51	3	SNP	0.001	T	T	73730411	C	T	73730411	3	4	185	1	0	0	0	0	1	0	0	0	11467	759	27	1	2771	1	PAPLN	14	73730411	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	8848323	73730411	33619129	152	46266											
HEATR4	399671	genome.wustl.edu	37	chr14	73969644	73969644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctcatttgcccaagcGcctgtgcagctgctctcctc	5	10	10	16	2	2	0	1	0	1	0	4	1	2	0	3	1	5	4	3	1	1	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr14:73969644G>A	ENST00000553558.1	-	11	2381	c.2060C>T	c.(2059-2061)gCg>gTg	p.A687V	HEATR4_ENST00000560393.1_Missense_Mutation_p.A640V|HEATR4_ENST00000334988.2_Missense_Mutation_p.A687V	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	687										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTGCCCAAGCGCCTGTGCAGC	0.433																																																	0													148	130	136					14																	73969644		2203	4300	6503	SO:0001583	missense	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2060C>T	14.37:g.73969644G>A	ENSP00000450444:p.Ala687Val		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.A687V	ENST00000553558.1	37	c.2060	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143492	0.37825	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.15952	2.38	5.33	5.33	0.75918	Armadillo-like helical (1);Armadillo-type fold (1);	0.250414	0.28322	N	0.015771	T	0.25606	0.0623	L	0.53249	1.67	0.21256	N	0.999747	D	0.60160	0.987	P	0.48189	0.57	T	0.09509	-1.0671	10	0.59425	D	0.04	-2.3496	15.9376	0.79723	0.0:0.0:1.0:0.0	.	687	Q86WZ0	HEAT4_HUMAN	V	687;640	ENSP00000450444:A687V	ENSP00000335447:A640V	A	-	2	0	HEATR4	73039397	0.971000	0.33674	0.117000	0.21633	0.042000	0.13812	5.905000	0.69893	2.493000	0.84123	0.455000	0.32223	GCG	HEATR4	-	superfamily_ARM-type_fold	ENSG00000187105		0.433	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	-	0	54	0	G	NM_203309		73969644	-1	tier1	-	no_errors	ENST00000334988	ensembl	human	known	74_37	missense	23.88	51	16	SNP	0.297	A	A	73969644	G	A	73969644	3	1	185	1	0	0	0	0	1	0	0	0	7057	1087	38	1	1052	1	HEATR4	14	73969644	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	239233	73969644	33379896	153	46267											
CTDSPL2	51496	genome.wustl.edu	37	chr15	44776523	44776523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaaaacctaacaaacaGatatctcgagtaagacggaa	20	5	9	7	2	1	3	0	0	1	3	2	6	1	4	1	2	3	1	1	2	7	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr15:44776523G>T	ENST00000260327.4	+	3	851	c.288G>T	c.(286-288)caG>caT	p.Q96H	CTDSPL2_ENST00000558373.1_Missense_Mutation_p.Q96H|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.Q96H|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.Q96H	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	96							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CTAACAAACAGATATCTCGAG	0.353																																																	0													111	100	103					15																	44776523		2198	4298	6496	SO:0001583	missense	0			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.288G>T	15.37:g.44776523G>T	ENSP00000260327:p.Gln96His		Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.Q96H	ENST00000260327.4	37	c.288	CCDS10110.1	15	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799383	0.50208	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.79554	-1.28;-1.28	5.4	5.4	0.78164	.	0.332405	0.32952	N	0.005444	T	0.70491	0.3230	N	0.19112	0.55	0.09310	N	0.999992	P;P	0.45827	0.867;0.511	B;B	0.41764	0.366;0.135	T	0.67337	-0.5696	10	0.46703	T	0.11	-4.5637	15.0632	0.71970	0.0:0.1416:0.8584:0.0	.	96;96	Q05D32-2;Q05D32	.;CTSL2_HUMAN	H	96	ENSP00000260327:Q96H;ENSP00000380000:Q96H	ENSP00000260327:Q96H	Q	+	3	2	CTDSPL2	42563815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.096000	0.41738	2.681000	0.91329	0.591000	0.81541	CAG	CTDSPL2	-	NULL	ENSG00000137770		0.353	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL2	HGNC	protein_coding	OTTHUMT00000253851.1	-	0	28	0	G	NM_016396		44776523	1	tier1	-	no_errors	ENST00000260327	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T	T	44776523	G	T	44776523	3	4	185	1	0	0	0	0	1	0	0	0	4015	933	33	3	294	3	CTDSPL2	15	44776523	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09		44776523	57754869	154	46268											
ISLR2	57611	genome.wustl.edu	37	chr15	74426478	74426478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggagcagcgctgtggcaaCggggacccctctcggtacgt	7	6	16	12	4	1	0	0	0	1	0	2	3	1	2	2	5	4	4	2	5	2	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr15:74426478C>T	ENST00000361742.3	+	4	2152	c.1383C>T	c.(1381-1383)aaC>aaT	p.N461N	ISLR2_ENST00000445793.1_Silent_p.N461N|ISLR2_ENST00000565540.1_Silent_p.N461N|ISLR2_ENST00000565159.1_Silent_p.N461N|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Silent_p.N461N|ISLR2_ENST00000453268.2_Silent_p.N461N|ISLR2_ENST00000435464.1_Silent_p.N461N	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	461					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCTGTGGCAACGGGGACCCCT	0.662																																																	0													33	35	34					15																	74426478		2196	4297	6493	SO:0001819	synonymous_variant	0				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1383C>T	15.37:g.74426478C>T			A8K352|Q9P263	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom	p.N461	ENST00000361742.3	37	c.1383	CCDS10259.1	15																																																																																			ISLR2	-	NULL	ENSG00000167178		0.662	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	HGNC	protein_coding	OTTHUMT00000269046.1	-	0	28	0	C	NM_020851		74426478	1	tier1	-	no_errors	ENST00000361742	ensembl	human	known	74_37	silent	21.43	22	6	SNP	0.008	T	T	74426478	C	T	74426478	2	4	185	1	0	0	0	0	0	0	0	1	7886	535	19	1		1	ISLR2	15	74426478	Silent	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	29649955	74426478	28104914	155	46269											
AGBL1	123624	genome.wustl.edu	37	chr15	87089267	87089267	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatggccactcccaaaagaAgaatgtgttcctttatggct	11	11	8	11	0	0	2	0	0	0	2	2	2	2	2	4	2	0	2	4	2	5	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr15:87089267A>C	ENST00000441037.2	+	19	2677	c.2582A>C	c.(2581-2583)aAg>aCg	p.K861T	AGBL1_ENST00000421325.2_Missense_Mutation_p.K861T|AGBL1_ENST00000389298.3_Missense_Mutation_p.K592T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	861					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						TCCCAAAAGAAGAATGTGTTC	0.438																																																	0													116	108	111					15																	87089267		1925	4142	6067	SO:0001583	missense	0			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.2582A>C	15.37:g.87089267A>C	ENSP00000413001:p.Lys861Thr		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.K861T	ENST00000441037.2	37	c.2582	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879552	0.72294	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10099	2.91;2.91	5.53	4.41	0.53225	Peptidase M14, carboxypeptidase A (1);	1.052520	0.07812	U	0.958378	T	0.32041	0.0816	M	0.66506	2.035	0.34409	D	0.696204	D	0.63880	0.993	D	0.71414	0.973	T	0.05178	-1.0901	10	0.56958	D	0.05	-11.896	10.9616	0.47389	0.9272:0.0:0.0728:0.0	.	861	Q96MI9	CBPC4_HUMAN	T	896;861;592	ENSP00000397173:K861T;ENSP00000373949:K592T	ENSP00000373949:K592T	K	+	2	0	AGBL1	84890271	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.817000	0.75252	1.107000	0.41642	0.533000	0.62120	AAG	AGBL1	-	pfam_Peptidase_M14	ENSG00000166748		0.438	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	-	0	75	0	A	NM_152336		87089267	1	tier1	-	no_errors	ENST00000441037	ensembl	human	known	74_37	missense	8.46	119	11	SNP	1.000	C	C	87089267	A	C	87089267	3	2	185	1	0	0	0	0	1	0	0	0	375	72	3	4	2652	4	AGBL1	15	87089267	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	12662789	87089267	15442125	156	46270											
TSC2	7249	genome.wustl.edu	37	chr16	2121821	2121821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgagaagaagaccagcggCcccctttctcctcccacagg	9	7	9	16	1	2	3	0	1	2	3	4	4	3	3	5	2	1	0	5	2	2	1	rs137854310|rs137854103		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:2121821C>T	ENST00000219476.3	+	19	2613	c.1983C>T	c.(1981-1983)ggC>ggT	p.G661G	TSC2_ENST00000568454.1_Silent_p.G672G|TSC2_ENST00000353929.4_Silent_p.G661G|TSC2_ENST00000350773.4_Silent_p.G661G|TSC2_ENST00000439673.2_Silent_p.G624G|TSC2_ENST00000401874.2_Silent_p.G661G|TSC2_ENST00000382538.6_Silent_p.G612G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	661					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)				AGACCAGCGGCCCCCTTTCTC	0.677			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													10	12	12					16																	2121821		2188	4292	6480	SO:0001819	synonymous_variant	0	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.1983C>T	16.37:g.2121821C>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.G661	ENST00000219476.3	37	c.1983	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin-type_domain	ENSG00000103197		0.677	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2		0	10	0	C	NM_000548		2121821	1			no_errors	ENST00000219476	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.001	T	T	2121821	C	T	2121821	2	4	185	1	0	0	0	0	0	0	0	1	16654	726	26	3		3	TSC2	16	2121821	Silent	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09		2121821	88232932	157	46271											
ABCC12	94160	genome.wustl.edu	37	chr16	48149422	48149422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgtgggcgtccacggcCgacagggggtcgtccagcag	6	4	16	15	5	0	0	0	0	0	0	3	1	2	0	4	4	1	1	4	4	0	0	rs150180336		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:48149422C>T	ENST00000311303.3	-	13	2238	c.1893G>A	c.(1891-1893)tcG>tcA	p.S631S	ABCC12_ENST00000448542.1_Silent_p.S631S|ABCC12_ENST00000416054.1_Missense_Mutation_p.R607Q	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	631	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CGTCCACGGCCGACAGGGGGT	0.632																																																	0								C		2,4400	4.2+/-10.8	0,2,2199	108	98	101		1893	-10.5	0	16	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCC12	NM_033226.2		0,3,6498	TT,TC,CC		0.0116,0.0454,0.0231		631/1360	48149422	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	0			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.1893G>A	16.37:g.48149422C>T			Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,pfscan_ABC1_TM_dom	p.R607Q	ENST00000311303.3	37	c.1820	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	6.502	0.460824	0.12342	4.54E-4	1.16E-4	ENSG00000140798	ENST00000416054	D	0.93247	-3.19	5.24	-10.5	0.00291	.	.	.	.	.	D	0.88403	0.6427	.	.	.	0.20489	N	0.999899	.	.	.	.	.	.	T	0.78518	-0.2173	6	0.29301	T	0.29	.	11.6741	0.51419	0.1582:0.6728:0.0:0.169	.	.	.	.	Q	607	ENSP00000413046:R607Q	ENSP00000413046:R607Q	R	-	2	0	ABCC12	46706923	0.000000	0.05858	0.021000	0.16686	0.031000	0.12232	-1.952000	0.01528	-2.492000	0.00516	-1.547000	0.00903	CGG	ABCC12	-	NULL	ENSG00000140798		0.632	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	-	0	45	0	C	NM_033226		48149422	-1	tier1	rs150180336	no_errors	ENST00000416054	ensembl	human	known	74_37	missense	36.71	50	29	SNP	0.518	T	T	48149422	C	T	48149422	2	4	185	1	0	0	0	0	0	0	0	1	52	639	23	1		1	ABCC12	16	48149422	Silent	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	46027601	48149422	42205331	158	46272											
NUP93	9688	genome.wustl.edu	37	chr16	56871629	56871629	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaacatggcactctccaTtgccgaacggtaagccagga	13	6	11	11	2	1	1	0	0	1	1	2	4	1	2	3	3	4	2	3	3	4	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:56871629T>G	ENST00000308159.5	+	18	2130	c.2009T>G	c.(2008-2010)aTt>aGt	p.I670S	NUP93_ENST00000542526.1_Missense_Mutation_p.I547S|NUP93_ENST00000569842.1_Missense_Mutation_p.I670S|NUP93_ENST00000564887.1_Missense_Mutation_p.I547S	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	670					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						GCACTCTCCATTGCCGAACGG	0.572																																					Colon(33;610 796 1305 1705 38917)												0													58	49	52					16																	56871629		2198	4300	6498	SO:0001583	missense	0			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.2009T>G	16.37:g.56871629T>G	ENSP00000310668:p.Ile670Ser		B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.I670S	ENST00000308159.5	37	c.2009	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	T	24.7	4.558006	0.86231	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.53857	0.6;0.6	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.74648	-0.3595	10	0.54805	T	0.06	-16.6083	16.3695	0.83350	0.0:0.0:0.0:1.0	.	670	Q8N1F7	NUP93_HUMAN	S	670;547	ENSP00000310668:I670S;ENSP00000440235:I547S	ENSP00000310668:I670S	I	+	2	0	NUP93	55429130	1.000000	0.71417	0.979000	0.43373	0.694000	0.40290	7.632000	0.83247	2.315000	0.78130	0.533000	0.62120	ATT	NUP93	-	pfam_Nucleoporin_int_Nup93/Nic96	ENSG00000102900		0.572	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	-	0	28	0	T	NM_014669		56871629	1	tier1	-	no_errors	ENST00000308159	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	G	G	56871629	T	G	56871629	3	3	185	1	0	0	0	0	1	0	0	0	10811	1493	52	4	2075	4	NUP93	16	56871629	Missense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09	8722207	56871629	33483124	159	46273											
CDH11	1009	genome.wustl.edu	37	chr16	64984684	64984684	+	Missense_Mutation	SNP	A	A	T	1	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	ccttacccaggagaatgacgAtgcaggcgaggatggcgatc	11	6	14	10	3	0	2	0	1	0	1	1	7	0	3	2	4	2	1	2	4	2	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:64984684A>T	ENST00000268603.4	-	12	2495	c.1880T>A	c.(1879-1881)aTc>aAc	p.I627N	CDH11_ENST00000394156.3_Missense_Mutation_p.I627N|CDH11_ENST00000566827.1_Missense_Mutation_p.I501N	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	627					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)		GAGAATGACGATGCAGGCGAG	0.622			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													55	43	47					16																	64984684		2203	4300	6503	SO:0001583	missense	0			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.1880T>A	16.37:g.64984684A>T	ENSP00000268603:p.Ile627Asn		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I627N	ENST00000268603.4	37	c.1880	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052697	0.75960	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.61158	0.29;0.13	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	M	0.91972	3.26	0.80722	D	1	D;P	0.71674	0.998;0.551	D;B	0.67548	0.952;0.168	D	0.85024	0.0913	10	0.87932	D	0	.	15.3511	0.74389	1.0:0.0:0.0:0.0	.	627;627	P55287-2;P55287	.;CAD11_HUMAN	N	627;627;610	ENSP00000268603:I627N;ENSP00000377711:I627N	ENSP00000268603:I627N	I	-	2	0	CDH11	63542185	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.339000	0.96797	2.217000	0.71921	0.533000	0.62120	ATC	CDH11	-	NULL	ENSG00000140937		0.622	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	51	0	A	NM_033664		64984684	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	23.08	40	12	SNP	1.000	T	T	64984684	A	T	64984684	3	4	185	1	0	0	0	0	1	0	0	0	3104	333	12	5	518	5	CDH11	16	64984684	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	8113055	64984684	25370069	160	46274											
MBTPS1	8720	genome.wustl.edu	37	chr16	84094328	84094328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcctgctccactgggaGggcgctggcggttcccagag	5	7	16	13	2	0	2	0	1	0	1	2	3	2	3	3	4	2	3	3	4	0	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:84094328G>T	ENST00000343411.3	-	20	3158	c.2663C>A	c.(2662-2664)cCt>cAt	p.P888H		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	888					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						TCCACTGGGAGGGCGCTGGCG	0.582																																																	0													64	53	57					16																	84094328		2200	4300	6500	SO:0001583	missense	0			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.2663C>A	16.37:g.84094328G>T	ENSP00000344223:p.Pro888His		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.P888H	ENST00000343411.3	37	c.2663	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935312	0.52866	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.21543	2.0	5.49	5.49	0.81192	.	0.051135	0.85682	D	0.000000	T	0.19927	0.0479	L	0.42686	1.345	0.80722	D	1	P	0.38110	0.618	B	0.34652	0.187	T	0.03641	-1.1017	10	0.15066	T	0.55	-17.5264	19.3807	0.94532	0.0:0.0:1.0:0.0	.	888	Q14703	MBTP1_HUMAN	H	888;333	ENSP00000344223:P888H	ENSP00000344223:P888H	P	-	2	0	MBTPS1	82651829	1.000000	0.71417	0.989000	0.46669	0.723000	0.41478	9.814000	0.99346	2.575000	0.86900	0.561000	0.74099	CCT	MBTPS1	-	NULL	ENSG00000140943		0.582	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	-	0	44	0	G	NM_003791		84094328	-1	tier1	-	no_errors	ENST00000343411	ensembl	human	known	74_37	missense	7.02	52	4	SNP	1.000	T	T	84094328	G	T	84094328	3	4	185	1	0	0	0	0	1	0	0	0	9399	1000	35	3	511	3	MBTPS1	16	84094328	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	19109644	84094328	6260425	161	46275											
C16orf7	9605	genome.wustl.edu	37	chr16	89777219	89777219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggactgtcctggggccGcggggctgcgctgggctcgg	1	6	23	11	4	0	0	0	0	0	0	2	1	1	1	2	9	1	3	2	9	0	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:89777219G>A	ENST00000389386.3	-	10	1157	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Missense_Mutation_p.R275W|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	345					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										TCCTGGGGCCGCGGGGCTGCG	0.736																																																	0													2	2	2					16																	89777219		1388	3208	4596	SO:0001583	missense	0			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.1033C>T	16.37:g.89777219G>A	ENSP00000374037:p.Arg345Trp			Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.R345W	ENST00000389386.3	37	c.1033	CCDS42220.1	16	.	.	.	.	.	.	.	.	.	.	G	6.441	0.449432	0.12223	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	.	.	.	4.14	-8.28	0.01013	.	0.562435	0.18202	N	0.148478	T	0.25044	0.0608	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06862	-1.0803	9	0.72032	D	0.01	.	4.5524	0.12120	0.1312:0.0911:0.2095:0.5683	.	345	Q9Y2B5	CP007_HUMAN	W	345;376	.	ENSP00000261625:R376W	R	-	1	2	C16orf7	88304720	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.613000	0.05610	-2.488000	0.00518	-2.616000	0.00158	CGG	VPS9D1	-	NULL	ENSG00000075399		0.736	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1	HGNC	protein_coding	OTTHUMT00000422508.1	-	0	23	0	G	NM_004913		89777219	-1	tier1	-	no_errors	ENST00000389386	ensembl	human	known	74_37	missense	48.57	36	34	SNP	0.000	A	A	89777219	G	A	89777219	3	1	185	1	0	0	0	0	1	0	0	0	1833	1086	38	1	886	1	C16orf7	16	89777219	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	5682891	89777219	577534	162	46276											
MYO1C	4641	genome.wustl.edu	37	chr17	1382889	1382889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgccccactcaccctGgtcagatacttgagctggtt	6	10	9	16	1	2	2	2	1	0	1	2	2	2	2	4	2	3	2	4	2	1	3	rs146685153		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:1382889G>A	ENST00000575158.1	-	8	1088	c.912C>T	c.(910-912)acC>acT	p.T304T	MYO1C_ENST00000359786.5_Silent_p.T339T|MYO1C_ENST00000438665.2_Silent_p.T320T|MYO1C_ENST00000545534.2_Silent_p.T315T|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000361007.2_Silent_p.T304T			Q12965	MYO1E_HUMAN	myosin IC	309	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACTCACCCTGGTCAGATACT	0.662																																																	0								G	,,	0,4406		0,0,2203	63	47	52		1017,960,912	2.9	1	17	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	339/1064,320/1045,304/1029	1382889	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.912C>T	17.37:g.1382889G>A			Q14778	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T339	ENST00000575158.1	37	c.1017	CCDS11003.1	17																																																																																			MYO1C	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197879		0.662	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	-	0	43	0	G			1382889	-1	tier1	rs146685153	no_errors	ENST00000359786	ensembl	human	known	74_37	silent	35.09	37	20	SNP	1.000	A	A	1382889	G	A	1382889	2	1	185	1	0	0	0	0	0	0	0	1	10108	1335	47	3		3	MYO1C	17	1382889	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09		1382889	79812321	163	46277											
RTN4RL1	146760	genome.wustl.edu	37	chr17	1840006	1840006	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcgggggcctgtttcccGgcgcccgccttagagatctg	4	9	14	14	4	1	1	0	0	1	1	3	2	2	1	4	3	1	2	4	3	1	2	rs373766836		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:1840006G>A	ENST00000331238.6	-	2	1589	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCTGTTTCCCGGCGCCCGCCT	0.647																																					GBM(68;949 1139 14865 32798 38342)												0								G		0,3806		0,0,1903	26	31	29		1110	-1	0	17		29	1,8197		0,1,4098	no	coding-synonymous	RTN4RL1	NM_178568.2		0,1,6001	AA,AG,GG		0.0122,0.0,0.0083		370/442	1840006	1,12003	1903	4099	6002	SO:0001819	synonymous_variant	0			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.1110C>T	17.37:g.1840006G>A				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A370	ENST00000331238.6	37	c.1110	CCDS45569.1	17																																																																																			RTN4RL1	-	NULL	ENSG00000185924		0.647	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	HGNC	protein_coding	OTTHUMT00000450155.2	-	0	62	0	G	NM_178568		1840006	-1	tier1	-	no_errors	ENST00000331238	ensembl	human	known	74_37	silent	56.79	35	46	SNP	0.011	A	A	1840006	G	A	1840006	2	1	185	1	0	0	0	0	0	0	0	1	13776	1103	39	1		1	RTN4RL1	17	1840006	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	457117	1840006	79355204	164	46278											
SSH2	85464	genome.wustl.edu	37	chr17	27975312	27975312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcaatcacggtggaggctGagcgactcacccccattttg	9	8	12	12	2	2	1	2	1	0	0	2	3	2	2	2	4	1	2	2	4	1	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:27975312G>A	ENST00000269033.3	-	13	1347	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	SSH2_ENST00000540801.1_Missense_Mutation_p.S426L|RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.11_ENST00000582881.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	399	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGGAGGCTGAGCGACTCAC	0.468																																																	0													101	89	93					17																	27975312		2203	4300	6503	SO:0001583	missense	0			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.1196C>T	17.37:g.27975312G>A	ENSP00000269033:p.Ser399Leu		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S399L	ENST00000269033.3	37	c.1196	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.777891	0.96929	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.72942	-0.7;-0.7	5.84	5.84	0.93424	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92573	0.7641	H	0.99870	4.87	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	0.95583	0.8648	10	0.87932	D	0	-11.3596	20.1346	0.98019	0.0:0.0:1.0:0.0	.	426;399;399	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	L	399;426;399	ENSP00000269033:S399L;ENSP00000444743:S426L	ENSP00000269033:S399L	S	-	2	0	SSH2	24999438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	TCA	SSH2	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000141298		0.468	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	-	0	92	0	G	NM_033389		27975312	-1	tier1	-	no_errors	ENST00000269033	ensembl	human	known	74_37	missense	12.90	108	16	SNP	1.000	A	A	27975312	G	A	27975312	3	1	185	1	0	0	0	0	1	0	0	0	15232	1294	45	3	3087	3	SSH2	17	27975312	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	26135306	27975312	53219898	165	46279											
UNC45B	146862	genome.wustl.edu	37	chr17	33513524	33513524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagaagtggttcagacagcCcgagaatgtctcatcaagtg	12	8	12	9	1	3	3	3	0	1	3	4	4	3	3	1	1	1	2	1	1	3	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:33513524C>T	ENST00000268876.5	+	20	2839	c.2742C>T	c.(2740-2742)gcC>gcT	p.A914A	UNC45B_ENST00000591048.1_Silent_p.A833A|UNC45B_ENST00000433649.1_Silent_p.A912A|UNC45B_ENST00000378449.1_Silent_p.A833A|RP11-799D4.2_ENST00000590144.1_RNA|UNC45B_ENST00000394570.2_Silent_p.A912A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	914					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TTCAGACAGCCCGAGAATGTC	0.527																																																	0													147	121	130					17																	33513524		2203	4300	6503	SO:0001819	synonymous_variant	0			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2742C>T	17.37:g.33513524C>T			Q495Q8|Q495Q9	Silent	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A914	ENST00000268876.5	37	c.2742	CCDS11292.1	17																																																																																			UNC45B	-	NULL	ENSG00000141161		0.527	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2		0	86	0	C	NM_173167		33513524	1			no_errors	ENST00000268876	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.982	T	T	33513524	C	T	33513524	2	4	185	1	0	0	0	0	0	0	0	1	17038	610	22	3		3	UNC45B	17	33513524	Silent	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	5538212	33513524	47681686	166	46280											
GPR179	440435	genome.wustl.edu	37	chr17	36499228	36499228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtggagggttaaaggtcaGcaaagccctgtacactcttg	10	10	13	8	0	2	0	1	0	1	0	2	1	2	1	1	4	3	3	1	4	4	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:36499228G>A	ENST00000342292.4	-	1	465	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	149					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)				TTAAAGGTCAGCAAAGCCCTG	0.622																																																	0													53	56	55					17																	36499228		2087	4199	6286	SO:0001819	synonymous_variant	0				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.445C>T	17.37:g.36499228G>A				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.L149	ENST00000342292.4	37	c.445	CCDS42308.1	17																																																																																			GPR179	-	NULL	ENSG00000188888		0.622	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	-	0	50	0	G			36499228	-1	tier1	-	no_errors	ENST00000342292	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	A	A	36499228	G	A	36499228	2	1	185	1	0	0	0	0	0	0	0	1	6700	962	34	3		3	GPR179	17	36499228	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	2985704	36499228	44695982	167	46281											
MEOX1	4222	genome.wustl.edu	37	chr17	41738609	41738609	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcgccgggcgtctgaGacagggaagtgccagttggg	6	6	19	10	3	1	1	0	1	1	1	1	3	1	2	3	4	2	1	3	4	1	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:41738609G>T	ENST00000318579.4	-	1	713	c.294C>A	c.(292-294)gtC>gtA	p.V98V	MEOX1_ENST00000329168.3_Silent_p.V98V|MEOX1_ENST00000393661.2_5'UTR|MEOX1_ENST00000549132.1_Missense_Mutation_p.S69Y	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	98					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	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)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GGGCGTCTGAGACAGGGAAGT	0.682																																																	0													50	57	55					17																	41738609		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	7013	protein-coding gene	gene with protein product		600147	"mesenchyme homeo box 1"			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.294C>A	17.37:g.41738609G>T			A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	superfamily_Homeodomain-like,pfscan_Homeobox_dom	p.S69Y	ENST00000318579.4	37	c.206	CCDS11466.1	17	.	.	.	.	.	.	.	.	.	.	G	7.139	0.581470	0.13686	.	.	ENSG00000005102	ENST00000549132	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	T	0.62392	0.2424	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65998	-0.6032	5	0.87932	D	0	-9.1485	6.1176	0.20136	0.0938:0.0:0.7044:0.2017	.	.	.	.	Y	69	.	ENSP00000449049:S69Y	S	-	2	0	MEOX1	39094135	0.463000	0.25799	0.984000	0.44739	0.780000	0.44128	-0.118000	0.10692	2.463000	0.83235	0.655000	0.94253	TCT	MEOX1	-	NULL	ENSG00000005102		0.682	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX1	HGNC	protein_coding	OTTHUMT00000409452.1	-	0	40	0	G			41738609	-1	tier1	-	no_errors	ENST00000549132	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.976	T	T	41738609	G	T	41738609	2	4	185	1	0	0	0	0	0	0	0	1	9511	929	33	3		3	MEOX1	17	41738609	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	5239381	41738609	39456601	168	46282											
SGCA	6442	genome.wustl.edu	37	chr17	48247597	48247597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttctgcccacccactgagGccccagaccgtgacttcttg	6	10	8	17	1	3	3	0	2	3	1	3	3	3	3	5	1	1	0	5	1	0	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:48247597G>A	ENST00000262018.3	+	7	877	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	SGCA_ENST00000344627.6_Intron|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	281					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						ACCCACTGAGGCCCCAGACCG	0.617																																																	0													123	105	111					17																	48247597		2203	4300	6503	SO:0001583	missense	0			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.841G>A	17.37:g.48247597G>A	ENSP00000262018:p.Ala281Thr		A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.A281T	ENST00000262018.3	37	c.841	CCDS32679.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.77|13.77	2.336154|2.336154	0.41398|0.41398	.|.	.|.	ENSG00000108823|ENSG00000108823	ENST00000262018|ENST00000504073	D|.	0.97642|.	-4.47|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.126363|.	0.53938|.	D|.	0.000046|.	T|T	0.58892|0.58892	0.2154|0.2154	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	P|.	0.47034|.	0.889|.	B|.	0.43658|.	0.426|.	T|T	0.54302|0.54302	-0.8314|-0.8314	10|5	0.21014|.	T|.	0.42|.	-32.9593|-32.9593	12.2044|12.2044	0.54345|0.54345	0.0789:0.0:0.9211:0.0|0.0789:0.0:0.9211:0.0	.|.	281|.	Q16586|.	SGCA_HUMAN|.	T|D	281|53	ENSP00000262018:A281T|.	ENSP00000262018:A281T|.	A|G	+|+	1|2	0|0	SGCA|SGCA	45602596|45602596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	1.735000|1.735000	0.38176|0.38176	2.755000|2.755000	0.94549|0.94549	0.655000|0.655000	0.94253|0.94253	GCC|GGC	SGCA	-	pfam_Sarcoglycan_2	ENSG00000108823		0.617	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCA	HGNC	protein_coding	OTTHUMT00000366841.1		0	54	0	G	NM_000023		48247597	1			no_errors	ENST00000262018	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	A	A	48247597	G	A	48247597	3	1	185	1	0	0	0	0	1	0	0	0	14244	1203	42	3	867	3	SGCA	17	48247597	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	6508988	48247597	32947613	169	46283											
ACOX1	51	genome.wustl.edu	37	chr17	73947651	73947651	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccaaaatctgtggttCtggttcactacgtgacatag	13	12	8	8	1	3	1	1	1	2	0	4	1	4	1	1	2	1	2	1	2	6	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:73947651C>A	ENST00000301608.4	-	8	1012	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	ACOX1_ENST00000293217.5_Nonsense_Mutation_p.E318*|ACOX1_ENST00000537812.1_Nonsense_Mutation_p.E280*	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	318					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	ATCTGTGGTTCTGGTTCACTA	0.388																																																	0													83	86	85					17																	73947651		2203	4300	6503	SO:0001587	stop_gained	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.952G>T	17.37:g.73947651C>A	ENSP00000301608:p.Glu318*		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Nonsense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.E318*	ENST00000301608.4	37	c.952	CCDS11735.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.778490	0.99261	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.6621	19.5704	0.95409	0.0:1.0:0.0:0.0	.	.	.	.	X	318;318;280;318;250	.	ENSP00000293217:E318X	E	-	1	0	ACOX1	71459246	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	7.679000	0.84048	2.622000	0.88805	0.462000	0.41574	GAA	ACOX1	-	superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000161533		0.388	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	-	0	18	0	C			73947651	-1	tier1	-	no_errors	ENST00000293217	ensembl	human	known	74_37	nonsense	27.50	29	11	SNP	1.000	A	A	73947651	C	A	73947651	4	1	185	1	0	0	0	0	0	1	0	0	158	922	32	3	1058	3	ACOX1	17	73947651	Nonsense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	25700054	73947651	7247559	170	46284											
AZI1	22994	genome.wustl.edu	37	chr17	79165000	79165000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgggtccttaccggctctCggcagccttctcactctcct	3	11	10	17	3	3	0	1	0	3	0	7	0	4	0	4	4	2	2	4	4	1	2	rs577025986		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:79165000C>T	ENST00000269392.4	-	22	3014	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	AZI1_ENST00000374782.3_Missense_Mutation_p.E884K|AZI1_ENST00000575907.1_Missense_Mutation_p.E887K|AZI1_ENST00000450824.2_Missense_Mutation_p.E920K	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		923					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)	p.E920K(1)|p.E884K(1)		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)			TACCGGCTCTCGGCAGCCTTC	0.652													C|||	1	0.000199681	0	0	5008	,	,		13518	0.001		0	False		,,,				2504	0																2	Substitution - Missense(2)	urinary_tract(2)											51	56	54					17																	79165000		2203	4300	6503	SO:0001583	missense	0																														ENST00000269392.4:c.2767G>A	17.37:g.79165000C>T	ENSP00000269392:p.Glu923Lys		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	superfamily_t-SNARE	p.E923K	ENST00000269392.4	37	c.2767		17	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519393	0.64634	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.17213	2.29;2.34;2.29	5.15	4.18	0.49190	.	0.124400	0.52532	D	0.000062	T	0.34803	0.0910	M	0.63843	1.955	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;1.0;0.973;0.973	P;D;B;B	0.67231	0.877;0.95;0.406;0.406	T	0.04178	-1.0971	10	0.27785	T	0.31	-20.5648	13.2217	0.59892	0.0:0.9231:0.0:0.0769	.	920;923;884;920	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	K	920;884;923	ENSP00000393583:E920K;ENSP00000363914:E884K;ENSP00000269392:E923K	ENSP00000269392:E923K	E	-	1	0	AZI1	76779595	1.000000	0.71417	0.796000	0.32109	0.024000	0.10985	7.355000	0.79434	1.161000	0.42604	0.591000	0.81541	GAG	AZI1	-	NULL	ENSG00000141577		0.652	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	HGNC	protein_coding	OTTHUMT00000256070.1	-	0	91	0	C			79165000	-1	tier1	-	no_errors	ENST00000269392	ensembl	human	known	74_37	missense	39.71	82	54	SNP	0.999	T	T	79165000	C	T	79165000	3	4	185	1	0	0	0	0	1	0	0	0	1241	893	31	1	504	1	AZI1	17	79165000	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	5217349	79165000	2030210	171	46285											
METTL4	64863	genome.wustl.edu	37	chr18	2563854	2563854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaacaacacatcttttaCgcttctaaagggtagatcaa	16	11	6	8	1	3	2	1	1	2	1	3	2	3	2	0	1	3	2	0	1	8	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr18:2563854C>A	ENST00000574538.1	-	3	1176	c.401G>T	c.(400-402)cGt>cTt	p.R134L	METTL4_ENST00000319888.6_Missense_Mutation_p.R134L|RP11-715F3.2_ENST00000583253.1_RNA	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	134					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACATCTTTTACGCTTCTAAAG	0.294																																																	0													125	109	114					18																	2563854		2201	4299	6500	SO:0001583	missense	0				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.401G>T	18.37:g.2563854C>A	ENSP00000458290:p.Arg134Leu		B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.R134L	ENST00000574538.1	37	c.401	CCDS11826.1	18	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770570	0.69992	.	.	ENSG00000101574	ENST00000319888	T	0.31769	1.48	5.42	2.65	0.31530	.	0.271361	0.31976	N	0.006771	T	0.46268	0.1384	M	0.67953	2.075	0.35006	D	0.756479	D	0.76494	0.999	P	0.60173	0.87	T	0.60757	-0.7200	10	0.72032	D	0.01	-1.8785	10.7252	0.46064	0.0:0.7906:0.0:0.2094	.	134	Q8N3J2	METL4_HUMAN	L	134	ENSP00000320349:R134L	ENSP00000320349:R134L	R	-	2	0	METTL4	2553854	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.760000	0.38430	0.677000	0.31305	0.591000	0.81541	CGT	METTL4	-	NULL	ENSG00000101574		0.294	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL4	HGNC	protein_coding	OTTHUMT00000254326.3		0	32	0	C	NM_022840		2563854	-1			no_errors	ENST00000574538	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.986	A	A	2563854	C	A	2563854	3	1	185	1	0	0	0	0	1	0	0	0	9540	536	19	2	1045	2	METTL4	18	2563854	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09		2563854	75513394	172	46286											
EPB41L3	23136	genome.wustl.edu	37	chr18	5438063	5438063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcagatagttgggcaggGtctggtggataaaatttcac	10	13	12	6	0	4	1	2	0	2	1	4	2	4	2	0	4	0	2	0	4	3	5			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr18:5438063G>T	ENST00000341928.2	-	6	916	c.576C>A	c.(574-576)gaC>gaA	p.D192E	EPB41L3_ENST00000540638.2_Missense_Mutation_p.D192E|EPB41L3_ENST00000400111.3_Missense_Mutation_p.D192E|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D192E|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D192E|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	192	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTGGGCAGGGTCTGGTGGAT	0.383																																																	0													119	114	116					18																	5438063		2203	4300	6503	SO:0001583	missense	0			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.576C>A	18.37:g.5438063G>T	ENSP00000343158:p.Asp192Glu		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.D192E	ENST00000341928.2	37	c.576	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	G	17.50	3.403991	0.62288	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.83	2.07	0.26955	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.040856	0.85682	D	0.000000	D	0.85124	0.5625	L	0.42245	1.32	0.80722	D	1	D;B;D;D;B	0.76494	0.985;0.257;0.999;0.999;0.064	P;B;D;D;B	0.76575	0.681;0.065;0.988;0.979;0.23	T	0.81963	-0.0692	10	0.42905	T	0.14	.	9.4957	0.38986	0.3985:0.0:0.6015:0.0	.	192;192;83;192;192	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	E	192;83;192;83;192;192;273	ENSP00000343158:D192E;ENSP00000441174:D192E;ENSP00000341138:D192E;ENSP00000382981:D192E	ENSP00000343158:D192E	D	-	3	2	EPB41L3	5428063	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	1.494000	0.35616	0.403000	0.25479	-0.136000	0.14681	GAC	EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like	ENSG00000082397		0.383	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0	41	0	G	NM_012307		5438063	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.999	T	T	5438063	G	T	5438063	3	4	185	1	0	0	0	0	1	0	0	0	5170	1252	44	3	2755	3	EPB41L3	18	5438063	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	2874209	5438063	72639185	173	46287											
ARHGAP28	79822	genome.wustl.edu	37	chr18	6882161	6882161	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgtgaagaacttgatgccaAgtttaatgctgataaattta	14	13	8	6	1	0	4	0	3	0	1	0	4	0	4	2	0	3	2	2	0	7	6			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr18:6882161A>C	ENST00000383472.4	+	11	1420	c.1316A>C	c.(1315-1317)aAg>aCg	p.K439T	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.K262T|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.K280T|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.K280T|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.K280T|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.K439T|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.K387T|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.K275T			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	439	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTTGATGCCAAGTTTAATGCT	0.398																																																	0													153	148	150					18																	6882161		2203	4300	6503	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1316A>C	18.37:g.6882161A>C	ENSP00000372964:p.Lys439Thr		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K439T	ENST00000383472.4	37	c.1316		18	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761699	0.69763	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.68	3.31	0.37934	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.338213	0.34067	N	0.004295	T	0.47838	0.1467	L	0.52364	1.645	0.33952	D	0.644593	P;B;B;B	0.37781	0.608;0.368;0.171;0.051	P;B;B;B	0.51833	0.681;0.217;0.098;0.067	T	0.55885	-0.8070	10	0.28530	T	0.3	.	9.2879	0.37769	0.8525:0.0:0.1475:0.0	.	439;271;280;387	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	T	439;387;280;275;280;280;271;262	ENSP00000382963:K439T;ENSP00000262227:K387T;ENSP00000392660:K280T;ENSP00000437262:K275T;ENSP00000313506:K280T;ENSP00000406907:K280T	ENSP00000262227:K387T	K	+	2	0	ARHGAP28	6872161	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.996000	0.57009	0.445000	0.26639	0.533000	0.62120	AAG	ARHGAP28	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000088756		0.398	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0	56	0	A	XM_371108		6882161	1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	C	C	6882161	A	C	6882161	3	2	185	1	0	0	0	0	1	0	0	0	877	72	3	4	873	4	ARHGAP28	18	6882161	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	1444098	6882161	71195087	174	46288											
LAMA1	284217	genome.wustl.edu	37	chr18	7036038	7036038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactgtctaccgtctctaccGgaatatcgtaggacaccgtg	9	11	9	12	4	2	0	0	0	2	0	4	2	2	2	3	2	3	1	3	2	6	5	rs139065838		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr18:7036038G>A	ENST00000389658.3	-	13	1880	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	596	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGTCTCTACCGGAATATCGTA	0.453													G|||	1	0.000199681	0	0	5008	,	,		22784	0		0.001	False		,,,				2504	0																0								G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	181	129	147		1787	5.8	0.6	18	dbSNP_134	147	0,8600		0,0,4300	no	missense	LAMA1	NM_005559.3	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	596/3076	7036038	2,13004	2203	4300	6503	SO:0001583	missense	0			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.1787C>T	18.37:g.7036038G>A	ENSP00000374309:p.Pro596Leu			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P596L	ENST00000389658.3	37	c.1787	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819811	0.90873	4.54E-4	0.0	ENSG00000101680	ENST00000389658	T	0.18657	2.2	5.78	5.78	0.91487	Laminin B type IV (2);Laminin B, subgroup (1);	0.060321	0.64402	D	0.000003	T	0.31040	0.0784	N	0.20530	0.585	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.03852	-1.0998	10	0.09843	T	0.71	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	596	P25391	LAMA1_HUMAN	L	596	ENSP00000374309:P596L	ENSP00000374309:P596L	P	-	2	0	LAMA1	7026038	1.000000	0.71417	0.609000	0.28983	0.741000	0.42261	7.232000	0.78116	2.731000	0.93534	0.655000	0.94253	CCG	LAMA1	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000101680		0.453	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	66	0	G	NM_005559		7036038	-1	tier1	rs139065838	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	20.00	52	13	SNP	1.000	A	A	7036038	G	A	7036038	3	1	185	1	0	0	0	0	1	0	0	0	8633	1116	39	1	7644	1	LAMA1	18	7036038	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	153877	7036038	71041210	175	46289											
LAMA3	3909	genome.wustl.edu	37	chr18	21481106	21481106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagtgctgaaccggataaGgacctggcagaaaacccacc	14	5	10	12	1	0	2	0	1	0	1	0	4	0	4	4	3	4	2	4	3	5	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr18:21481106G>T	ENST00000313654.9	+	48	6261	c.6020G>T	c.(6019-6021)aGg>aTg	p.R2007M	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1951M|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.R398M|LAMA3_ENST00000587184.1_Missense_Mutation_p.R342M	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2007	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)					AACCGGATAAGGACCTGGCAG	0.438																																																	0													63	64	64					18																	21481106		2203	4300	6503	SO:0001583	missense	0			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.6020G>T	18.37:g.21481106G>T	ENSP00000324532:p.Arg2007Met		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2007M	ENST00000313654.9	37	c.6020	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860265	0.32884	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.77877	2.85;-1.13;2.85	5.61	0.791	0.18619	Laminin I (1);	.	.	.	.	T	0.80793	0.4691	M	0.65975	2.015	0.09310	N	0.999997	P;P;P;P	0.49783	0.741;0.785;0.878;0.928	P;P;P;P	0.53360	0.621;0.695;0.724;0.724	T	0.70234	-0.4928	9	0.72032	D	0.01	.	9.2242	0.37395	0.5664:0.0:0.4336:0.0	.	342;398;1951;2007	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	M	2007;1951;398	ENSP00000324532:R2007M;ENSP00000382432:R1951M;ENSP00000269217:R398M	ENSP00000269217:R398M	R	+	2	0	LAMA3	19735104	0.131000	0.22433	0.137000	0.22149	0.167000	0.22549	0.231000	0.17872	0.139000	0.18822	-0.137000	0.14449	AGG	LAMA3	-	pfam_Laminin_I	ENSG00000053747		0.438	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	-	0	44	0	G	NM_000227, NM_198129		21481106	1	tier1	-	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.185	T	T	21481106	G	T	21481106	3	4	185	1	0	0	0	0	1	0	0	0	8635	1000	35	3	6385	3	LAMA3	18	21481106	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	14445068	21481106	56596142	176	46290											
PCSK4	148223	genome.wustl.edu	37	chr19	1481832	1481832	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagagccaggcgtatagtgGgaggtccatggacatgccgc	9	6	17	9	2	0	1	0	0	0	1	1	4	1	3	3	5	2	1	3	5	2	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:1481832G>T	ENST00000436106.2	-	0	0				C19orf25_ENST00000588871.1_5'Flank|C19orf25_ENST00000586564.1_5'Flank|C19orf25_ENST00000592872.1_5'Flank|C19orf25_ENST00000591027.1_5'Flank|C19orf25_ENST00000588427.1_5'Flank|C19orf25_ENST00000588849.1_5'Flank|C19orf25_ENST00000585675.1_5'Flank|PCSK4_ENST00000300954.5_Missense_Mutation_p.P732T|C19orf25_ENST00000427685.2_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTATAGTGGGAGGTCCATG	0.672																																																	0													25	27	26					19																	1481832		2200	4296	6496	SO:0001631	upstream_gene_variant	0			AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1481832G>T	Exception_encountered		B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.P732T	ENST00000436106.2	37	c.2194	CCDS45898.1	19	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429916	0.25726	.	.	ENSG00000115257	ENST00000300954	T	0.68331	-0.32	3.34	2.25	0.28309	.	.	.	.	.	T	0.54791	0.1880	L	0.40543	1.245	0.09310	N	1	P	0.43477	0.808	B	0.39119	0.291	T	0.36962	-0.9726	9	0.35671	T	0.21	.	10.2746	0.43501	0.0:0.2044:0.7956:0.0	.	732	Q6UW60	PCSK4_HUMAN	T	732	ENSP00000300954:P732T	ENSP00000300954:P732T	P	-	1	0	PCSK4	1432832	0.007000	0.16637	0.001000	0.08648	0.023000	0.10783	1.364000	0.34171	0.501000	0.28013	0.305000	0.20034	CCA	PCSK4	-	NULL	ENSG00000115257		0.672	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCSK4	HGNC	protein_coding	OTTHUMT00000449694.1	-	0	26	0	G	NM_152482		1481832	-1	tier1	-	no_errors	ENST00000300954	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.006	T	T	1481832	G	T	1481832	1	4	185	0	1	0	0	0	0	0	0	0	11641	1232	43	3		3	PCSK4	19	1481832	5'Flank	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09		1481832	57647151	177	46291											
KLF16	83855	genome.wustl.edu	37	chr19	1854587	1854587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtccgggtggaagccGgggtggcggcgggcgtgctt	4	6	22	9	5	0	0	0	0	0	0	1	1	1	1	2	8	3	2	2	8	1	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:1854587G>A	ENST00000250916.4	-	2	700	c.630C>T	c.(628-630)ccC>ccT	p.P210P	CTB-31O20.6_ENST00000592884.1_RNA|KLF16_ENST00000592313.1_5'UTR	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	210	Pro/Ser-rich.				dopamine receptor signaling pathway (GO:0007212)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGAAGCCGGGGTGGCGGC	0.741																																																	0													11	17	15					19																	1854587		2161	4226	6387	SO:0001819	synonymous_variant	0			AF327440	CCDS12075.1	19p13.3	2013-10-15			ENSG00000129911	ENSG00000129911		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16857	protein-coding gene	gene with protein product		606139				11438660	Standard	NM_031918		Approved	NSLP2, BTEB4, DRRF	uc002luc.3	Q9BXK1	OTTHUMG00000179994	ENST00000250916.4:c.630C>T	19.37:g.1854587G>A				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P210	ENST00000250916.4	37	c.630	CCDS12075.1	19																																																																																			KLF16	-	pfscan_Znf_C2H2	ENSG00000129911		0.741	KLF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF16	HGNC	protein_coding	OTTHUMT00000449214.1	-	0	28	0	G			1854587	-1	tier1	-	no_errors	ENST00000250916	ensembl	human	known	74_37	silent	23.53	13	4	SNP	0.913	A	A	1854587	G	A	1854587	2	1	185	1	0	0	0	0	0	0	0	1	8371	1103	39	1		1	KLF16	19	1854587	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	372755	1854587	57274396	178	46292											
AP3D1	8943	genome.wustl.edu	37	chr19	2137743	2137743	+	Missense_Mutation	SNP	A	A	G	1	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	caccttgaaggtgaacttggAggcactcatcacttctatga	11	11	9	10	0	3	3	2	3	1	0	3	4	3	4	1	3	1	1	1	3	3	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:2137743A>G	ENST00000345016.5	-	3	487	c.256T>C	c.(256-258)Tcc>Ccc	p.S86P	AP3D1_ENST00000355272.6_Missense_Mutation_p.S86P|AP3D1_ENST00000350812.6_Missense_Mutation_p.S86P|AP3D1_ENST00000356926.4_Missense_Mutation_p.S86P	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	86					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAACTTGGAGGCACTCATC	0.507																																																	0													164	166	165					19																	2137743		2002	4164	6166	SO:0001583	missense	0			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.256T>C	19.37:g.2137743A>G	ENSP00000344055:p.Ser86Pro		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.S86P	ENST00000345016.5	37	c.256	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011313	0.75046	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.24	5.24	0.73138	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	N	0.17278	0.47	0.25903	N	0.983336	B;B;D	0.71674	0.024;0.049;0.998	B;B;P	0.62089	0.02;0.039;0.898	T	0.18398	-1.0338	10	0.19590	T	0.45	-40.7615	14.2956	0.66311	1.0:0.0:0.0:0.0	.	86;86;86	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	P	86	ENSP00000349398:S86P;ENSP00000344055:S86P;ENSP00000347416:S86P;ENSP00000342321:S86P	ENSP00000341579:S86P	S	-	1	0	AP3D1	2088743	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.747000	0.68689	1.979000	0.57680	0.460000	0.39030	TCC	AP3D1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	ENSG00000065000		0.507	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1		0	44	0	A			2137743	-1			no_errors	ENST00000355272	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	G	G	2137743	A	G	2137743	3	3	185	1	0	0	0	0	1	0	0	0	746	304	11	4	3475	4	AP3D1	19	2137743	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	283156	2137743	56991240	179	46293											
HDGFRP2	84717	genome.wustl.edu	37	chr19	4493736	4493736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgactccgactccaaggccGattcggacggggccaagcct	8	5	12	16	5	0	0	0	0	0	0	3	4	2	1	6	4	1	0	6	4	2	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:4493736G>A	ENST00000301284.4	+	7	779	c.715G>A	c.(715-717)Gat>Aat	p.D239N	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.D239N	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		239	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CTCCAAGGCCGATTCGGACGG	0.667																																																	0													12	16	15					19																	4493736		2083	4161	6244	SO:0001583	missense	0																														ENST00000301284.4:c.715G>A	19.37:g.4493736G>A	ENSP00000301284:p.Asp239Asn		I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.D239N	ENST00000301284.4	37	c.715	CCDS42472.1	19	.	.	.	.	.	.	.	.	.	.	g	14.61	2.586838	0.46110	.	.	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.52983	0.64	4.94	4.94	0.65067	.	0.261174	0.36268	U	0.002698	T	0.40171	0.1106	L	0.53249	1.67	0.25516	N	0.987417	P;P	0.40638	0.725;0.725	B;B	0.30029	0.11;0.11	T	0.49234	-0.8961	10	0.54805	T	0.06	.	14.8783	0.70513	0.0:0.0:1.0:0.0	.	239;239	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	N	239;225	ENSP00000301284:D239N	ENSP00000301284:D239N	D	+	1	0	AC011498.1	4444736	1.000000	0.71417	0.486000	0.27416	0.464000	0.32679	4.802000	0.62539	2.276000	0.75962	0.443000	0.29094	GAT	HDGFRP2	-	NULL	ENSG00000167674		0.667	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HDGFRP2	Uniprot_gn	protein_coding	OTTHUMT00000458642.1	-	0	155	0	G			4493736	1	tier1	-	no_errors	ENST00000301284	ensembl	human	known	74_37	missense	18.25	103	23	SNP	0.481	A	A	4493736	G	A	4493736	3	1	185	1	0	0	0	0	1	0	0	0	7047	1058	37	1	741	1	HDGFRP2	19	4493736	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	2355993	4493736	54635247	180	46294											
MUC16	94025	genome.wustl.edu	37	chr19	9090016	9090016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggaacagcaaactgatggGtggttgggccagctgtggat	9	9	17	6	0	0	1	0	1	0	0	0	3	0	3	1	5	4	3	1	5	2	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:9090016G>A	ENST00000397910.4	-	1	2002	c.1799C>T	c.(1798-1800)aCc>aTc	p.T600I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	600	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						AAACTGATGGGTGGTTGGGCC	0.547																																																	0													60	63	62					19																	9090016		2180	4281	6461	SO:0001583	missense	0			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.1799C>T	19.37:g.9090016G>A	ENSP00000381008:p.Thr600Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T600I	ENST00000397910.4	37	c.1799	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.506	0.093784	0.08632	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.68	1.68	0.24146	.	.	.	.	.	T	0.04363	0.0120	N	0.08118	0	.	.	.	D	0.69078	0.997	D	0.72982	0.979	T	0.42137	-0.9469	8	0.87932	D	0	.	6.8229	0.23866	0.0:0.0:1.0:0.0	.	600	B5ME49	.	I	600	ENSP00000381008:T600I	ENSP00000381008:T600I	T	-	2	0	MUC16	8951016	0.000000	0.05858	0.121000	0.21740	0.101000	0.19017	0.009000	0.13219	1.241000	0.43820	0.205000	0.17691	ACC	MUC16	-	NULL	ENSG00000181143		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	55	0	G	NM_024690		9090016	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.146	A	A	9090016	G	A	9090016	3	1	185	1	0	0	0	0	1	0	0	0	10011	1261	44	3	42060	3	MUC16	19	9090016	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	4596280	9090016	50038967	181	46295											
OR7D2	162998	genome.wustl.edu	37	chr19	9296619	9296619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatcagctctgactcccaCctccacacccccatgtactt	8	9	4	20	0	2	1	1	1	1	0	4	1	4	1	6	0	2	2	6	0	1	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:9296619C>A	ENST00000344248.2	+	1	341	c.162C>A	c.(160-162)caC>caA	p.H54Q		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	54					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTGACTCCCACCTCCACACCC	0.542																																																	0													107	99	102					19																	9296619		2203	4300	6503	SO:0001583	missense	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.162C>A	19.37:g.9296619C>A	ENSP00000345563:p.His54Gln		Q6IFJ7|Q8N133	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H54Q	ENST00000344248.2	37	c.162	CCDS32900.1	19	.	.	.	.	.	.	.	.	.	.	C	8.585	0.883303	0.17467	.	.	ENSG00000188000	ENST00000344248	T	0.00792	5.69	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.167634	0.28006	U	0.016968	T	0.01029	0.0034	L	0.45744	1.44	0.21147	N	0.99977	B	0.26975	0.165	B	0.26094	0.066	T	0.44967	-0.9293	10	0.62326	D	0.03	.	11.9872	0.53155	0.0:1.0:0.0:0.0	.	54	Q96RA2	OR7D2_HUMAN	Q	54	ENSP00000345563:H54Q	ENSP00000345563:H54Q	H	+	3	2	OR7D2	9157619	0.000000	0.05858	1.000000	0.80357	0.575000	0.36095	-1.076000	0.03420	1.583000	0.49898	0.511000	0.50034	CAC	OR7D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000188000		0.542	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	-	0	126	0	C			9296619	1	tier1	-	no_errors	ENST00000344248	ensembl	human	known	74_37	missense	20.93	68	18	SNP	0.709	A	A	9296619	C	A	9296619	3	1	185	1	0	0	0	0	1	0	0	0	11258	506	18	3	164	3	OR7D2	19	9296619	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	206603	9296619	49832364	182	46296											
ZNF823	55552	genome.wustl.edu	37	chr19	11833536	11833536	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttatagggtttctctccGgtgtgagttctctcatgtct	5	18	9	9	1	4	1	1	1	3	0	7	1	5	1	1	2	0	2	1	2	2	5	rs373610199		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:11833536G>A	ENST00000341191.6	-	4	966	c.813C>T	c.(811-813)acC>acT	p.T271T	ZNF823_ENST00000545749.1_Silent_p.T89T	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	271					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						GTTTCTCTCCGGTGTGAGTTC	0.433										HNSCC(68;0.2)																																							0								G		2,4396	4.2+/-10.8	0,2,2197	75	78	77		813	-1.3	0	19		77	0,8598		0,0,4299	no	coding-synonymous	ZNF823	NM_001080493.2		0,2,6496	AA,AG,GG		0.0,0.0455,0.0154		271/611	11833536	2,12994	2199	4299	6498	SO:0001819	synonymous_variant	0			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.813C>T	19.37:g.11833536G>A			A0PJL4|B7Z8D4|Q6P4A9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T271	ENST00000341191.6	37	c.813	CCDS45981.1	19																																																																																			ZNF823	-	pfscan_Znf_C2H2	ENSG00000197933		0.433	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF823	HGNC	protein_coding	OTTHUMT00000344516.2	-	0	98	0	G	NM_001080493		11833536	-1	tier1	-	no_errors	ENST00000341191	ensembl	human	known	74_37	silent	16.22	93	18	SNP	0.972	A	A	11833536	G	A	11833536	2	1	185	1	0	0	0	0	0	0	0	1	18227	1103	39	1		1	ZNF823	19	11833536	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	2536917	11833536	47295447	183	46297											
MAST1	22983	genome.wustl.edu	37	chr19	12977490	12977490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagacaggtatcaccacGtgaactcctatgacgaggat	12	8	10	11	2	2	3	2	2	0	1	3	5	3	4	2	2	1	2	2	2	3	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:12977490G>T	ENST00000251472.4	+	18	2092	c.2053G>T	c.(2053-2055)Gtg>Ttg	p.V685L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GTATCACCACGTGAACTCCTA	0.607																																																	0													65	50	55					19																	12977490		2203	4300	6503	SO:0001583	missense	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2053G>T	19.37:g.12977490G>T	ENSP00000251472:p.Val685Leu			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.V685L	ENST00000251472.4	37	c.2053	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304005	0.23736	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.23754	1.89	4.85	4.85	0.62838	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.153997	0.43919	D	0.000515	T	0.10981	0.0268	N	0.10809	0.05	0.34685	D	0.725147	B	0.12013	0.005	B	0.15870	0.014	T	0.15665	-1.0429	10	0.02654	T	1	-29.0933	9.4805	0.38898	0.098:0.0:0.902:0.0	.	685	Q9Y2H9	MAST1_HUMAN	L	685	ENSP00000251472:V685L	ENSP00000251472:V685L	V	+	1	0	MAST1	12838490	0.006000	0.16342	0.999000	0.59377	0.985000	0.73830	0.061000	0.14366	2.410000	0.81850	0.563000	0.77884	GTG	MAST1	-	superfamily_Kinase-like_dom	ENSG00000105613		0.607	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	-	0	19	0	G	NM_014975		12977490	1	tier1	-	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	T	T	12977490	G	T	12977490	3	4	185	1	0	0	0	0	1	0	0	0	9362	1145	40	2	2123	2	MAST1	19	12977490	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	1143954	12977490	46151493	184	46298											
CACNA1A	773	genome.wustl.edu	37	chr19	13409467	13409467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgcccccgtcggggccctCgccctcgccctcgccgcccc	0	5	10	26	7	0	0	0	0	0	0	5	0	0	0	8	2	0	0	8	2	0	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:13409467C>T	ENST00000360228.5	-	19	2979	c.2980G>A	c.(2980-2982)Gag>Aag	p.E994K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E995K	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	995					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)	tcggggccctcgccctcgccc	0.791																																																	0													12	11	11					19																	13409467		1280	2619	3899	SO:0001583	missense	0			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.2980G>A	19.37:g.13409467C>T	ENSP00000353362:p.Glu994Lys		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.E994K	ENST00000360228.5	37	c.2980	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997254	0.35226	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95821	-3.82	1.91	1.91	0.25777	.	26.724300	0.00714	N	0.000849	D	0.93664	0.7976	L	0.54323	1.7	0.31344	N	0.683325	B;B;D	0.56968	0.185;0.281;0.978	B;B;B	0.41894	0.012;0.016;0.369	D	0.87530	0.2452	10	0.28530	T	0.3	.	9.8436	0.41013	0.0:1.0:0.0:0.0	.	995;998;994	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	994;998;995;995	ENSP00000353362:E994K	ENSP00000317661:E995K	E	-	1	0	CACNA1A	13270467	0.000000	0.05858	0.977000	0.42913	0.760000	0.43138	0.548000	0.23314	1.389000	0.46526	0.407000	0.27541	GAG	CACNA1A	-	NULL	ENSG00000141837		0.791	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0	25	0	C	NM_000068		13409467	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.992	T	T	13409467	C	T	13409467	3	4	185	1	0	0	0	0	1	0	0	0	2545	893	31	1	4758	1	CACNA1A	19	13409467	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	431977	13409467	45719516	185	46299											
ZNF345	25850	genome.wustl.edu	37	chr19	37368648	37368648	+	Missense_Mutation	SNP	A	A	G	1	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	cagatctcactcagcatcagAgaattcacactggtgagaaa	15	8	8	10	0	4	3	4	1	1	3	5	5	4	3	0	1	1	1	0	1	2	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:37368648A>G	ENST00000529555.1	+	2	1704	c.916A>G	c.(916-918)Aga>Gga	p.R306G	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R306G|ZNF345_ENST00000589046.1_Missense_Mutation_p.R306G|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	306					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)			TCAGCATCAGAGAATTCACAC	0.403																																																	0													78	83	81					19																	37368648		2203	4300	6503	SO:0001583	missense	0			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.916A>G	19.37:g.37368648A>G	ENSP00000431202:p.Arg306Gly			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R306G	ENST00000529555.1	37	c.916	CCDS12497.1	19	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529062	0.44969	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.02421	4.3;4.3	3.93	1.7	0.24286	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	M	0.86651	2.83	0.22719	N	0.998813	B	0.31817	0.341	B	0.34242	0.178	T	0.38779	-0.9645	9	0.87932	D	0	.	1.1573	0.01799	0.5117:0.1953:0.1051:0.1879	.	306	Q14585	ZN345_HUMAN	G	306;306;70	ENSP00000431216:R306G;ENSP00000431202:R306G	ENSP00000442320:R70G	R	+	1	2	ZNF345	42060488	0.000000	0.05858	1.000000	0.80357	0.985000	0.73830	-0.725000	0.04942	0.146000	0.19002	-0.429000	0.05907	AGA	ZNF345	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000251247		0.403	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF345	HGNC	protein_coding	OTTHUMT00000388258.1	-	0	61	0	A			37368648	1	tier1	-	no_errors	ENST00000420450	ensembl	human	known	74_37	missense	27.42	45	17	SNP	0.989	G	G	37368648	A	G	37368648	3	3	185	1	0	0	0	0	1	0	0	0	17907	296	11	4	918	4	ZNF345	19	37368648	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	23959181	37368648	21760335	186	46300											
CEACAM18	729767	genome.wustl.edu	37	chr19	51983717	51983717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgttcaggaatacagctgGtactggggtgcaaacgacag	12	8	14	7	1	1	0	1	0	0	0	1	3	1	1	0	4	5	4	0	4	4	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:51983717G>T	ENST00000396477.4	+	2	204	c.183G>T	c.(181-183)tgG>tgT	p.W61C	CEACAM18_ENST00000451626.1_Missense_Mutation_p.W122C	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	61										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AATACAGCTGGTACTGGGGTG	0.562																																																	0													59	59	59					19																	51983717		2028	4187	6215	SO:0001583	missense	0					19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.183G>T	19.37:g.51983717G>T	ENSP00000379738:p.Trp61Cys		C9JN24	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W122C	ENST00000396477.4	37	c.366		19	.	.	.	.	.	.	.	.	.	.	.	12.78	2.040603	0.35989	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.54675	0.56	2.79	1.75	0.24633	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73305	0.3570	M	0.92555	3.32	0.45762	D	0.998652	D	0.89917	1.0	D	0.97110	1.0	T	0.72975	-0.4128	9	0.87932	D	0	-7.5655	5.7364	0.18069	0.1525:0.0:0.8475:0.0	.	122	A8MTB9	CEA18_HUMAN	C	122;61;61	ENSP00000402203:W122C	ENSP00000379738:W61C	W	+	3	0	CEACAM18	56675529	0.637000	0.27216	0.936000	0.37596	0.036000	0.12997	1.507000	0.35758	0.788000	0.33755	-0.141000	0.14075	TGG	CEACAM18	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000213822		0.562	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	-	0	75	0	G			51983717	1	tier1	-	no_errors	ENST00000451626	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.920	T	T	51983717	G	T	51983717	3	4	185	1	0	0	0	0	1	0	0	0	3196	1270	44	3	376	3	CEACAM18	19	51983717	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	14615069	51983717	7145266	187	46301											
CDC25B	994	genome.wustl.edu	37	chr20	3782599	3782599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtacagcaagtgccagcGgctcttccgctctccgtcca	7	9	9	16	3	2	0	0	0	2	0	5	0	4	0	4	1	4	4	4	1	2	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr20:3782599G>A	ENST00000245960.5	+	10	1647	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	CDC25B_ENST00000439880.2_Missense_Mutation_p.R303Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.R253Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.R226Q|CDC25B_ENST00000340833.4_Missense_Mutation_p.R276Q|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	317					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AAGTGCCAGCGGCTCTTCCGC	0.642																																																	0													27	25	26					20																	3782599		2203	4300	6503	SO:0001583	missense	0				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.950G>A	20.37:g.3782599G>A	ENSP00000245960:p.Arg317Gln		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.R317Q	ENST00000245960.5	37	c.950	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921611	0.73213	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	4.22	4.22	0.49857	.	0.194372	0.43747	D	0.000536	T	0.27629	0.0679	L	0.58810	1.83	0.43430	D	0.995593	P;P;P;P;P;D	0.54772	0.889;0.889;0.889;0.865;0.865;0.968	B;B;B;B;B;B	0.42959	0.204;0.204;0.204;0.129;0.129;0.403	T	0.06972	-1.0797	10	0.30854	T	0.27	-18.5498	14.8795	0.70522	0.0:0.0:1.0:0.0	.	226;239;253;276;303;317	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	Q	253;226;317;303;276	ENSP00000339125:R253Q;ENSP00000368918:R226Q;ENSP00000245960:R317Q;ENSP00000405972:R303Q;ENSP00000339170:R276Q	ENSP00000245960:R317Q	R	+	2	0	CDC25B	3730599	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.474000	0.35398	2.288000	0.76882	0.591000	0.81541	CGG	CDC25B	-	pfam_MPI_Phosphatase	ENSG00000101224		0.642	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	-	0	54	0	G	NM_021874		3782599	1	tier1	-	no_errors	ENST00000245960	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	A	A	3782599	G	A	3782599	3	1	185	1	0	0	0	0	1	0	0	0	3070	1116	39	1	988	1	CDC25B	20	3782599	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09		3782599	59242921	188	46302											
PLTP	5360	genome.wustl.edu	37	chr20	44533745	44533745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagttcctctcagtcagggGgaagaaggccccctggggtg	7	7	15	12	0	2	1	2	0	1	1	4	2	3	2	4	5	0	1	4	5	2	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr20:44533745G>A	ENST00000477313.1	-	8	1312	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S	PLTP_ENST00000354050.4_Missense_Mutation_p.P188S|PLTP_ENST00000542937.1_Missense_Mutation_p.P260S|PLTP_ENST00000372431.3_Missense_Mutation_p.P240S|PLTP_ENST00000420868.2_Missense_Mutation_p.P145S|PLTP_ENST00000372420.1_Missense_Mutation_p.P152S			P55058	PLTP_HUMAN	phospholipid transfer protein	240					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)				TCAGTCAGGGGGAAGAAGGCC	0.627																																																	0													42	45	44					20																	44533745		2203	4300	6503	SO:0001583	missense	0			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.718C>T	20.37:g.44533745G>A	ENSP00000417138:p.Pro240Ser		A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.P260S	ENST00000477313.1	37	c.778	CCDS13386.1	20	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578081	0.28180	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99;2.99	5.25	5.25	0.73442	Lipid-binding serum glycoprotein, N-terminal (1);Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.456983	0.25058	N	0.033476	T	0.05364	0.0142	N	0.11560	0.145	0.30329	N	0.786791	B;B;B;B;B;B;B	0.32324	0.339;0.339;0.164;0.364;0.314;0.364;0.364	B;B;B;B;B;B;B	0.31686	0.134;0.134;0.133;0.133;0.082;0.133;0.133	T	0.21965	-1.0230	10	0.10377	T	0.69	-34.95	10.5317	0.44981	0.1505:0.0:0.8495:0.0	.	145;145;152;240;188;240;260	E7EV16;B4DRB4;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;.;PLTP_HUMAN;.	S	152;240;188;240;260;145	ENSP00000361497:P152S;ENSP00000361508:P240S;ENSP00000335290:P188S;ENSP00000417138:P240S;ENSP00000440296:P260S;ENSP00000411671:P145S	ENSP00000335290:P188S	P	-	1	0	PLTP	43967152	1.000000	0.71417	0.992000	0.48379	0.806000	0.45545	2.319000	0.43788	2.460000	0.83146	0.563000	0.77884	CCC	PLTP	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000100979		0.627	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	-	0	21	0	G	NM_006227		44533745	-1	tier1	-	no_errors	ENST00000542937	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.962	A	A	44533745	G	A	44533745	3	1	185	1	0	0	0	0	1	0	0	0	12153	1232	43	3	795	3	PLTP	20	44533745	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	40751146	44533745	18491775	189	46303											
NPEPL1	79716	genome.wustl.edu	37	chr20	57269565	57269565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaccgctcaggtgcctctCggcgcttggagaagaagacg	8	6	13	14	4	2	3	1	0	1	3	3	4	2	3	3	3	1	2	3	3	2	1	rs370807734		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr20:57269565C>T	ENST00000356091.6	+	3	712	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	NPEPL1_ENST00000525967.1_Missense_Mutation_p.R114W|NPEPL1_ENST00000525817.1_Missense_Mutation_p.R94W|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	142						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)			AGGTGCCTCTCGGCGCTTGGA	0.632																																																	0								C	TRP/ARG,TRP/ARG,TRP/ARG	3,3953		0,3,1975	47	52	50		340,280,424	-5.1	0	20		50	0,8304		0,0,4152	no	missense,missense,missense	NPEPL1	NM_001204872.1,NM_001204873.1,NM_024663.3	101,101,101	0,3,6127	TT,TC,CC		0.0,0.0758,0.0245	possibly-damaging,possibly-damaging,possibly-damaging	114/496,94/476,142/524	57269565	3,12257	1978	4152	6130	SO:0001583	missense	0			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.424C>T	20.37:g.57269565C>T	ENSP00000348395:p.Arg142Trp		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	p.R142W	ENST00000356091.6	37	c.424	CCDS46621.1	20	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215045	0.39102	7.58E-4	0.0	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.32988	1.43;1.44;1.43	4.62	-5.13	0.02884	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.65975	2.015	0.34579	D	0.714249	D;D;D;D	0.76494	0.998;0.997;0.999;0.999	P;D;P;D	0.71184	0.889;0.913;0.735;0.972	T	0.61922	-0.6963	10	0.87932	D	0	-23.1519	16.4926	0.84206	0.7149:0.2851:0.0:0.0	.	142;94;114;142	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	W	114;94;142	ENSP00000434810:R114W;ENSP00000437112:R94W;ENSP00000348395:R142W	ENSP00000348395:R142W	R	+	1	2	NPEPL1	56702972	0.210000	0.23517	0.000000	0.03702	0.004000	0.04260	0.846000	0.27682	-0.593000	0.05844	-0.324000	0.08512	CGG	NPEPL1	-	NULL	ENSG00000215440		0.632	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	-	0	53	0	C	NM_024663		57269565	1	tier1	-	no_errors	ENST00000356091	ensembl	human	known	74_37	missense	7.35	63	5	SNP	0.038	T	T	57269565	C	T	57269565	3	4	185	1	0	0	0	0	1	0	0	0	10613	875	31	1	280	1	NPEPL1	20	57269565	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	12735820	57269565	5755955	190	46304											
DIDO1	11083	genome.wustl.edu	37	chr20	61510960	61510961	+	Frame_Shift_Del	DEL	CT	CT	-																															cagtttcggccgcgctcgcgCtctctcctcctgtcctcgga																										TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr20:61510960_61510961delCT	ENST00000266070.4	-	16	6672_6673	c.6347_6348delAG	c.(6346-6348)gagfs	p.E2116fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.E2116fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2116	Arg-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					cGCGCTCGCGCTCTCTCCTCCT	0.698																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0																																										SO:0001589	frameshift_variant	0			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.6347_6348delAG	20.37:g.61510964_61510965delCT	ENSP00000266070:p.Glu2116fs		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Del	DEL	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E2116fs	ENST00000266070.4	37	c.6348_6347	CCDS33506.1	20																																																																																			DIDO1	-	NULL	ENSG00000101191		0.698	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2		0	147	0	CT	NM_080796		61510961	-1	tier1		no_errors	ENST00000266070	ensembl	human	known	74_37	frame_shift_del	12.92	209	31	DEL	0.996:1.000	-	-	61510961	CT	-	61510960	7	5	185	1	0	1	0	1	0	0	0	0	4536	796	28	0	378	0	DIDO1	20	61510960	Frame_Shift_Del	DEL	CT	TCGA-ZR-A9CJ-01B-11D-A387-09	4241395	61510960	1514560	191	46305											
TPTE	7179	genome.wustl.edu	37	chr21	10907027	10907027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagattatccaattcattttTtggtagataaagcctaagaa	15	15	6	5	0	1	3	1	0	0	3	2	3	2	3	2	1	1	1	2	1	8	9			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr21:10907027T>C	ENST00000361285.4	-	24	1863	c.1534A>G	c.(1534-1536)Aaa>Gaa	p.K512E	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.K474E|TPTE_ENST00000298232.7_Missense_Mutation_p.K494E	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	512	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATTCATTTTTTGGTAGATAA	0.358																																																	0													82	73	76					21																	10907027		2203	4300	6503	SO:0001583	missense	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1534A>G	21.37:g.10907027T>C	ENSP00000355208:p.Lys512Glu		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.K512E	ENST00000361285.4	37	c.1534	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	9.312	1.055817	0.19907	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.88201	-2.35;-2.35;-2.35	2.39	-0.435	0.12279	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.055979	0.64402	U	0.000001	D	0.86104	0.5853	L	0.46157	1.445	0.20489	N	0.999892	B;B;P	0.38250	0.214;0.214;0.624	B;B;P	0.46389	0.209;0.149;0.515	T	0.79014	-0.1976	10	0.72032	D	0.01	-14.5757	7.4917	0.27466	0.0:0.0:0.4233:0.5767	.	474;494;512	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	E	494;512;474	ENSP00000298232:K494E;ENSP00000355208:K512E;ENSP00000344441:K474E	ENSP00000298232:K494E	K	-	1	0	TPTE	9928898	1.000000	0.71417	0.335000	0.25508	0.086000	0.17979	2.937000	0.48979	-0.082000	0.12640	0.155000	0.16302	AAA	TPTE	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom	ENSG00000166157		0.358	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	-	0	230	0	T			10907027	-1	tier1	-	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	10.76	224	27	SNP	0.955	C	C	10907027	T	C	10907027	3	2	185	1	0	0	0	0	1	0	0	0	16478	1850	64	4	125	4	TPTE	21	10907027	Missense_Mutation	SNP	T	TCGA-ZR-A9CJ-01B-11D-A387-09		10907027	37222868	192	46306											
ADAMTS1	9510	genome.wustl.edu	37	chr21	28212008	28212008	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgggaatccattccacCgcaggcccactcccaaagga	11	7	8	15	1	0	0	0	0	0	0	3	2	3	2	5	3	1	1	5	3	3	3	rs371016638		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr21:28212008C>T	ENST00000284984.3	-	7	2380	c.1926G>A	c.(1924-1926)gcG>gcA	p.A642A		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	642	Cys-rich.				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)		TCCATTCCACCGCAGGCCCAC	0.468																																																	0								C		0,4406		0,0,2203	103	103	103		1926	-10.7	0	21		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS1	NM_006988.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		642/968	28212008	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1926G>A	21.37:g.28212008C>T			D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.A642	ENST00000284984.3	37	c.1926	CCDS33524.1	21																																																																																			ADAMTS1	-	NULL	ENSG00000154734		0.468	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	-	0	67	0	C			28212008	-1	tier1	-	no_errors	ENST00000284984	ensembl	human	known	74_37	silent	28.33	43	17	SNP	0.001	T	T	28212008	C	T	28212008	2	4	185	1	0	0	0	0	0	0	0	1	255	639	23	1		1	ADAMTS1	21	28212008	Silent	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	17304981	28212008	19917887	193	46307											
DONSON	29980	genome.wustl.edu	37	chr21	34951796	34951796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagaatgaggcatgatagGacctgtaatctccaaactaa	16	8	9	8	0	1	3	0	2	1	1	2	5	1	4	2	2	1	2	2	2	5	3			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr21:34951796G>T	ENST00000303071.5	-	9	1489	c.1423C>A	c.(1423-1425)Cct>Act	p.P475T	DONSON_ENST00000432378.1_Intron|DONSON_ENST00000453626.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.P461T	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	475					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						GGCATGATAGGACCTGTAATC	0.428																																																	0													155	139	145					21																	34951796		2203	4300	6503	SO:0001583	missense	0			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.1423C>A	21.37:g.34951796G>T	ENSP00000307143:p.Pro475Thr		Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	NULL	p.P475T	ENST00000303071.5	37	c.1423	CCDS13632.1	21	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719583	0.89205	.	.	ENSG00000159147	ENST00000303113;ENST00000303071	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86036	0.1516	9	0.72032	D	0.01	-14.1107	19.6901	0.95998	0.0:0.0:1.0:0.0	.	461;475	F8W8A5;Q9NYP3	.;DONS_HUMAN	T	461;475	.	ENSP00000307143:P475T	P	-	1	0	DONSON	33873666	1.000000	0.71417	0.854000	0.33618	0.981000	0.71138	8.618000	0.90932	2.753000	0.94483	0.467000	0.42956	CCT	DONSON	-	NULL	ENSG00000159147		0.428	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DONSON	HGNC	protein_coding	OTTHUMT00000141184.1		0	99	0	G	NM_017613		34951796	-1			no_errors	ENST00000303071	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	34951796	G	T	34951796	3	4	185	1	0	0	0	0	1	0	0	0	4720	1174	41	3	285	3	DONSON	21	34951796	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	6739788	34951796	13178099	194	46308											
DOPEY2	9980	genome.wustl.edu	37	chr21	37636099	37636099	+	Frame_Shift_Del	DEL	A	A	-																															cctggaaaacaagaaggaccAaaaagacctgcaggtttgta																										TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr21:37636099delA	ENST00000399151.3	+	26	5559	c.5474delA	c.(5473-5475)caafs	p.Q1825fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1825					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGAAGGACCAAAAAGACCTG	0.423																																																	0													111	116	114					21																	37636099		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5474delA	21.37:g.37636099delA	ENSP00000382104:p.Gln1825fs		D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Del	DEL	pfam_Dopey_N	p.D1827fs	ENST00000399151.3	37	c.5474	CCDS13643.1	21																																																																																			DOPEY2	-	NULL	ENSG00000142197		0.423	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1		0	40	0	A	NM_005128		37636099	1	tier1		no_errors	ENST00000399151	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.526	-	-	37636099	A	-	37636099	7	5	185	1	0	1	0	1	0	0	0	0	4722	130	5	0	5572	0	DOPEY2	21	37636099	Frame_Shift_Del	DEL	A	TCGA-ZR-A9CJ-01B-11D-A387-09	2684303	37636099	10493796	195	46309											
COL18A1	80781	genome.wustl.edu	37	chr21	46902721	46902721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtacagggtgaagcaggcGccccaggacataaggtacaa	13	4	13	11	2	0	1	0	1	0	0	0	2	0	2	3	4	3	3	3	4	5	3	rs201476017	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr21:46902721G>A	ENST00000359759.4	+	14	2953	c.2932G>A	c.(2932-2934)Gcc>Acc	p.A978T	COL18A1_ENST00000400337.2_Missense_Mutation_p.A563T|COL18A1_ENST00000355480.5_Missense_Mutation_p.A743T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	978	Triple-helical region 3 (COL3).				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)		TGAAGCAGGCGCCCCAGGACA	0.592													G|||	2	0.000399361	0	0	5008	,	,		18322	0		0.001	False		,,,				2504	0.001																0								G	THR/ALA,THR/ALA	0,4088		0,0,2044	121	128	126		2227,1687	-1.6	0.1	21		126	6,8364		0,6,4179	yes	missense,missense	COL18A1	NM_030582.3,NM_130445.2	58,58	0,6,6223	AA,AG,GG		0.0717,0.0,0.0482	probably-damaging,probably-damaging	743/1520,563/1340	46902721	6,12452	2044	4185	6229	SO:0001583	missense	0				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.2932G>A	21.37:g.46902721G>A	ENSP00000352798:p.Ala978Thr		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.A978T	ENST00000359759.4	37	c.2932		21	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524339	0.27299	0.0	7.17E-4	ENSG00000182871	ENST00000400337;ENST00000355480;ENST00000359759	D;D;D	0.94232	-3.23;-3.38;-3.38	2.62	-1.63	0.08345	.	.	.	.	.	D	0.84483	0.5482	L	0.37850	1.14	0.21386	N	0.999707	B;B;B	0.24576	0.106;0.086;0.086	B;B;B	0.13407	0.009;0.005;0.005	T	0.69007	-0.5259	9	0.12766	T	0.61	.	3.4304	0.07426	0.4039:0.205:0.3911:0.0	.	978;743;563	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	T	563;743;978	ENSP00000383191:A563T;ENSP00000347665:A743T;ENSP00000352798:A978T	ENSP00000347665:A743T	A	+	1	0	COL18A1	45727149	0.002000	0.14202	0.122000	0.21767	0.049000	0.14656	0.305000	0.19254	-0.414000	0.07495	0.549000	0.68633	GCC	COL18A1	-	pfam_Collagen	ENSG00000182871		0.592	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	-	0	67	0	G			46902721	1	tier1	rs201476017	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	45.83	26	22	SNP	0.252	A	A	46902721	G	A	46902721	3	1	185	1	0	0	0	0	1	0	0	0	3682	1087	38	1	3100	1	COL18A1	21	46902721	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	9266622	46902721	1227174	196	46310											
HIRA	7290	genome.wustl.edu	37	chr22	19365551	19365551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgcccgccagggagcccGagagggggatgctgttaaag	8	6	18	9	2	0	1	0	0	0	1	0	4	0	3	3	4	3	2	3	4	2	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:19365551G>A	ENST00000263208.5	-	14	1710	c.1454C>T	c.(1453-1455)tCg>tTg	p.S485L	HIRA_ENST00000340170.4_Missense_Mutation_p.S485L|HIRA_ENST00000541063.1_Missense_Mutation_p.S441L|HIRA_ENST00000546308.1_Missense_Mutation_p.S441L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	485	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)	p.S485L(1)		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)					CAGGGAGCCCGAGAGGGGGAT	0.537																																																	1	Substitution - Missense(1)	endometrium(1)											92	106	101					22																	19365551		2203	4300	6503	SO:0001583	missense	0			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.1454C>T	22.37:g.19365551G>A	ENSP00000263208:p.Ser485Leu		Q05BU9|Q8IXN2	Missense_Mutation	SNP	pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S485L	ENST00000263208.5	37	c.1454	CCDS13759.1	22	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055765	0.55325	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.70986	-0.34;-0.53;-0.37;-0.32	5.28	5.28	0.74379	.	0.290510	0.31347	N	0.007808	T	0.60170	0.2248	N	0.24115	0.695	0.80722	D	1	B;B;B	0.14012	0.004;0.009;0.002	B;B;B	0.12156	0.003;0.007;0.001	T	0.53078	-0.8489	10	0.31617	T	0.26	-8.9801	19.1181	0.93350	0.0:0.0:1.0:0.0	.	441;485;485	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	L	485;485;441;441	ENSP00000345350:S485L;ENSP00000263208:S485L;ENSP00000446073:S441L;ENSP00000441870:S441L	ENSP00000263208:S485L	S	-	2	0	HIRA	17745551	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.756000	0.62205	2.756000	0.94617	0.655000	0.94253	TCG	HIRA	-	NULL	ENSG00000100084		0.537	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2	-	0	45	0	G	NM_003325		19365551	-1	tier1	-	no_errors	ENST00000263208	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	A	A	19365551	G	A	19365551	3	1	185	1	0	0	0	0	1	0	0	0	7147	1059	37	1	1647	1	HIRA	22	19365551	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09		19365551	31939015	197	46311											
TCN2	6948	genome.wustl.edu	37	chr22	31013382	31013382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatcagtgtcacgctgcagGtgcttagtctcttgccgccg	5	12	11	13	3	4	0	3	0	1	0	5	0	4	0	2	1	3	3	2	1	1	2			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:31013382G>T	ENST00000215838.3	+	7	1500	c.1006G>T	c.(1006-1008)Gtg>Ttg	p.V336L	TCN2_ENST00000407817.3_Missense_Mutation_p.V309L|TCN2_ENST00000405742.3_Missense_Mutation_p.V332L			P20062	TCO2_HUMAN	transcobalamin II	336					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)	CACGCTGCAGGTGCTTAGTCT	0.562																																																	0													142	107	119					22																	31013382		2203	4300	6503	SO:0001583	missense	0				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.1006G>T	22.37:g.31013382G>T	ENSP00000215838:p.Val336Leu		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.V336L	ENST00000215838.3	37	c.1006	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961013	0.74016	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.37915	1.17;1.17;1.21	5.08	2.97	0.34412	.	0.259215	0.37577	N	0.002030	T	0.49558	0.1564	M	0.83483	2.645	0.53688	D	0.999972	D;D;D	0.69078	0.996;0.997;0.997	P;P;P	0.55161	0.77;0.698;0.698	T	0.50474	-0.8824	10	0.40728	T	0.16	-18.8995	7.2733	0.26268	0.1979:0.0:0.8021:0.0	.	309;332;336	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	L	336;332;309	ENSP00000215838:V336L;ENSP00000385914:V332L;ENSP00000384914:V309L	ENSP00000215838:V336L	V	+	1	0	TCN2	29343382	0.999000	0.42202	0.817000	0.32601	0.018000	0.09664	1.997000	0.40786	1.283000	0.44513	0.650000	0.86243	GTG	TCN2	-	NULL	ENSG00000185339		0.562	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2		0	63	0	G	NM_000355		31013382	1			no_errors	ENST00000215838	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.770	T	T	31013382	G	T	31013382	3	4	185	1	0	0	0	0	1	0	0	0	15754	1261	44	3	1032	3	TCN2	22	31013382	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	11647831	31013382	20291184	198	46312											
CACNA1I	8911	genome.wustl.edu	37	chr22	40036989	40036989	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgagatccccccgctCaaggagcagggccgtgagtg	8	6	14	13	2	1	2	1	2	0	1	2	4	2	3	5	2	2	2	5	2	1	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:40036989C>A	ENST00000402142.3	+	6	858	c.858C>A	c.(856-858)ctC>ctA	p.L286L	CACNA1I_ENST00000407673.1_Silent_p.L286L|CACNA1I_ENST00000404898.1_Silent_p.L286L|CACNA1I_ENST00000336649.4_Silent_p.L286L|CACNA1I_ENST00000401624.1_Silent_p.L286L|CACNA1I_ENST00000400164.3_Silent_p.L286L	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	286					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)	TCCCCCCGCTCAAGGAGCAGG	0.622																																																	0													52	58	56					22																	40036989		2068	4202	6270	SO:0001819	synonymous_variant	0			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.858C>A	22.37:g.40036989C>A			B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L286	ENST00000402142.3	37	c.858	CCDS46710.1	22																																																																																			CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1		0	47	0	C	NM_001003406		40036989	1			no_errors	ENST00000336649	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.998	A	A	40036989	C	A	40036989	2	1	185	1	0	0	0	0	0	0	0	1	2553	813	29	3		3	CACNA1I	22	40036989	Silent	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	9023607	40036989	11267577	199	46313											
ENTHD1	150350	genome.wustl.edu	37	chr22	40161372	40161372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtttctacagaggcctGgttatggaaagtagaatctg	11	12	13	5	0	2	2	0	0	2	2	2	4	2	3	1	3	1	3	1	3	5	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:40161372G>T	ENST00000325157.6	-	6	1325	c.1075C>A	c.(1075-1077)Cag>Aag	p.Q359K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	359										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACAGAGGCCTGGTTATGGAAA	0.408																																																	0													134	126	128					22																	40161372		2203	4300	6503	SO:0001583	missense	0			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.1075C>A	22.37:g.40161372G>T	ENSP00000317431:p.Gln359Lys		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Q359K	ENST00000325157.6	37	c.1075	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294230	0.81025	.	.	ENSG00000176177	ENST00000325157	T	0.62941	-0.01	5.91	5.91	0.95273	.	0.123107	0.38959	N	0.001505	T	0.70150	0.3191	L	0.34521	1.04	0.38405	D	0.945766	D	0.69078	0.997	D	0.80764	0.994	T	0.70171	-0.4945	10	0.40728	T	0.16	-14.1463	15.7986	0.78433	0.0:0.0:1.0:0.0	.	359	Q8IYW4	ENTD1_HUMAN	K	359	ENSP00000317431:Q359K	ENSP00000317431:Q359K	Q	-	1	0	ENTHD1	38491318	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	4.422000	0.59854	2.793000	0.96121	0.655000	0.94253	CAG	ENTHD1	-	NULL	ENSG00000176177		0.408	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	-	0	84	0	G	NM_152512		40161372	-1	tier1	-	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	40161372	G	T	40161372	3	4	185	1	0	0	0	0	1	0	0	0	5153	1357	47	3	756	3	ENTHD1	22	40161372	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	124383	40161372	11143194	200	46314											
EP300	2033	genome.wustl.edu	37	chr22	41572509	41572509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	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	gcaagcaccatgtggagacaCgctggcactgtactgtctgt	9	9	12	11	1	1	1	0	0	1	1	1	2	1	1	1	2	2	5	1	2	2	1			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:41572509C>T	ENST00000263253.7	+	30	6257	c.5038C>T	c.(5038-5040)Cgc>Tgc	p.R1680C	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1680	Binding region for E1A adenovirus.				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.R1680C(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						TGTGGAGACACGCTGGCACTG	0.577			"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	Substitution - Missense(1)	large_intestine(1)											80	62	68					22																	41572509		2203	4300	6503	SO:0001583	missense	0	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.5038C>T	22.37:g.41572509C>T	ENSP00000263253:p.Arg1680Cys		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1680C	ENST00000263253.7	37	c.5038	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630406	0.46944	.	.	ENSG00000100393	ENST00000263253	D	0.96554	-4.05	5.23	2.84	0.33178	Zinc finger, ZZ-type (4);	0.000000	0.41605	D	0.000856	D	0.98576	0.9524	H	0.97465	4.01	0.49213	D	0.999763	D	0.89917	1.0	D	0.67231	0.95	D	0.99041	1.0824	10	0.72032	D	0.01	-6.8579	12.9086	0.58166	0.4032:0.5968:0.0:0.0	.	1680	Q09472	EP300_HUMAN	C	1680	ENSP00000263253:R1680C	ENSP00000263253:R1680C	R	+	1	0	EP300	39902455	0.981000	0.34729	0.900000	0.35374	0.947000	0.59692	2.686000	0.46968	1.313000	0.45069	0.650000	0.86243	CGC	EP300	-	pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	ENSG00000100393		0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0	20	0	C	NM_001429		41572509	1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.969	T	T	41572509	C	T	41572509	3	4	185	1	0	0	0	0	1	0	0	0	5164	536	19	1	5156	1	EP300	22	41572509	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	1411137	41572509	9732057	201	46315											
CELSR1	9620	genome.wustl.edu	37	chr22	46805032	46805032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaggacacgacgctctcaCcgctgaagagctgggggtga	9	6	14	12	3	1	3	1	2	1	1	3	5	2	4	2	3	1	3	2	3	1	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:46805032C>T	ENST00000262738.3	-	9	5086	c.5087G>A	c.(5086-5088)gGt>gAt	p.G1696D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1696	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GACGCTCTCACCGCTGAAGAG	0.637																																																	0													81	73	76					22																	46805032		2203	4300	6503	SO:0001583	missense	0			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.5087G>A	22.37:g.46805032C>T	ENSP00000262738:p.Gly1696Asp		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.G1696D	ENST00000262738.3	37	c.5087	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147826	0.57151	.	.	ENSG00000075275	ENST00000262738	T	0.74526	-0.85	4.71	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	U	0.000001	D	0.86058	0.5842	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.86492	0.1798	10	0.42905	T	0.14	.	17.257	0.87060	0.0:1.0:0.0:0.0	.	9;1696	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	D	1696	ENSP00000262738:G1696D	ENSP00000262738:G1696D	G	-	2	0	CELSR1	45183696	0.993000	0.37304	0.670000	0.29842	0.257000	0.26127	3.535000	0.53575	2.162000	0.67917	0.561000	0.74099	GGT	CELSR1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000075275		0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	-	0	57	0	C	NM_014246		46805032	-1	tier1	-	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	34.15	25	14	SNP	0.994	T	T	46805032	C	T	46805032	3	4	185	1	0	0	0	0	1	0	0	0	3228	507	18	3	4065	3	CELSR1	22	46805032	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	5232523	46805032	4499534	202	46316											
PHKA2	5256	genome.wustl.edu	37	chrX	18912339	18912339	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctggtcctgcaagaacaGctgactggccatctgcacga	10	7	10	14	1	1	2	0	1	1	1	2	3	2	2	3	2	4	3	3	2	2	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:18912339G>A	ENST00000379942.4	-	32	4185	c.3520C>T	c.(3520-3522)Ctg>Ttg	p.L1174L	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1174					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)					TGCAAGAACAGCTGACTGGCC	0.562																																																	0													71	52	58					X																	18912339		2203	4300	6503	SO:0001819	synonymous_variant	0				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.3520C>T	X.37:g.18912339G>A			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.L1174	ENST00000379942.4	37	c.3520	CCDS14190.1	X																																																																																			PHKA2	-	NULL	ENSG00000044446		0.562	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	-	0	42	0	G	NM_000292		18912339	-1	tier1	-	no_errors	ENST00000379942	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	A	A	18912339	G	A	18912339	2	1	185	1	0	0	0	0	0	0	0	1	11883	962	34	3		3	PHKA2	23	18912339	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09		18912339	136358221	203	46317											
PDK3	5165	genome.wustl.edu	37	chrX	24552067	24552067	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcaagtgagtcatttGagagacttccagtttttaat	10	17	7	7	0	3	3	2	2	1	1	4	4	4	3	1	0	0	1	1	0	2	6			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:24552067G>T	ENST00000379162.4	+	11	1334	c.1099G>T	c.(1099-1101)Gag>Tag	p.E367*	PDK3_ENST00000441463.2_Nonsense_Mutation_p.E367*	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	367					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGAGTCATTTGAGAGACTTCC	0.418																																																	0													59	53	55					X																	24552067		2203	4300	6503	SO:0001587	stop_gained	0			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.1099G>T	X.37:g.24552067G>T	ENSP00000368460:p.Glu367*		B4DXG6	Nonsense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.E367*	ENST00000379162.4	37	c.1099	CCDS14212.1	X	.	.	.	.	.	.	.	.	.	.	G	38	7.047429	0.98025	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	.	.	.	5.22	5.22	0.72569	.	0.102891	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.3503	17.8988	0.88897	0.0:0.0:1.0:0.0	.	.	.	.	X	367	.	ENSP00000368460:E367X	E	+	1	0	PDK3	24461988	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.417000	0.82017	0.513000	0.50165	GAG	PDK3	-	NULL	ENSG00000067992		0.418	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK3	HGNC	protein_coding	OTTHUMT00000056097.1	-	0	76	0	G	NM_005391		24552067	1	tier1	-	no_errors	ENST00000441463	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	T	T	24552067	G	T	24552067	4	4	185	1	0	0	0	0	0	1	0	0	11716	1291	45	3	1141	3	PDK3	23	24552067	Nonsense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	5639728	24552067	130718493	204	46318											
FAM47A	158724	genome.wustl.edu	37	chrX	34148795	34148795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactcgacgagtcttgggaGgctccggaccgagactggac	9	6	14	12	4	1	1	0	0	1	1	3	7	2	4	2	4	0	1	2	4	0	1	rs45535434		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:34148795G>A	ENST00000346193.3	-	1	1652	c.1601C>T	c.(1600-1602)cCt>cTt	p.P534L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	534										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						AGTCTTGGGAGGCTCCGGACC	0.652																																																	0													44	49	47					X																	34148795		2198	4297	6495	SO:0001583	missense	0			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.1601C>T	X.37:g.34148795G>A	ENSP00000345029:p.Pro534Leu		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.P534L	ENST00000346193.3	37	c.1601	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	g	3.841	-0.033767	0.07543	.	.	ENSG00000185448	ENST00000346193	T	0.22743	1.94	0.691	-0.263	0.12954	.	.	.	.	.	T	0.13114	0.0318	L	0.33485	1.01	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.32052	-0.9921	8	0.29301	T	0.29	.	.	.	.	rs45535434	534	Q5JRC9	FA47A_HUMAN	L	534	ENSP00000345029:P534L	ENSP00000345029:P534L	P	-	2	0	FAM47A	34058716	0.732000	0.28121	0.000000	0.03702	0.016000	0.09150	0.755000	0.26405	-0.227000	0.09884	-0.729000	0.03580	CCT	FAM47A	-	NULL	ENSG00000185448		0.652	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	-	0	78	0	G	NM_203408		34148795	-1	tier1	rs45535434	no_errors	ENST00000346193	ensembl	human	known	74_37	missense	13.54	83	13	SNP	0.002	A	A	34148795	G	A	34148795	3	1	185	1	0	0	0	0	1	0	0	0	5591	1000	35	3	778	3	FAM47A	23	34148795	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	9596728	34148795	121121765	205	46319											
USP9X	8239	genome.wustl.edu	37	chrX	41057806	41057806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgatgatttcatatttcCtgcatccaatgtttacctac	11	17	4	9	0	1	2	1	2	0	0	3	2	3	2	3	0	3	2	3	0	5	7			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:41057806C>T	ENST00000324545.8	+	30	5039	c.4406C>T	c.(4405-4407)cCt>cTt	p.P1469L	USP9X_ENST00000378308.2_Missense_Mutation_p.P1469L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1469					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						TTCATATTTCCTGCATCCAAT	0.328																																					Ovarian(172;1807 2695 35459 49286)												0													99	91	93					X																	41057806		2000	4180	6180	SO:0001583	missense	0			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.4406C>T	X.37:g.41057806C>T	ENSP00000316357:p.Pro1469Leu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.P1469L	ENST00000324545.8	37	c.4406	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830155	0.91036	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03553	3.9;3.89	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.18045	0.0433	M	0.76002	2.32	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.69307	0.963;0.883	T	0.00408	-1.1758	10	0.56958	D	0.05	.	17.7832	0.88530	0.0:1.0:0.0:0.0	.	1469;1469	Q93008-1;Q93008	.;USP9X_HUMAN	L	1469	ENSP00000367558:P1469L;ENSP00000316357:P1469L	ENSP00000316357:P1469L	P	+	2	0	USP9X	40942750	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.484000	0.81180	2.219000	0.72066	0.544000	0.68410	CCT	USP9X	-	NULL	ENSG00000124486		0.328	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	0	56	0	C	NM_004652		41057806	1	tier1	-	no_errors	ENST00000324545	ensembl	human	known	74_37	missense	44.26	34	27	SNP	1.000	T	T	41057806	C	T	41057806	3	4	185	1	0	0	0	0	1	0	0	0	17139	681	24	3	4520	3	USP9X	23	41057806	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	6909011	41057806	114212754	206	46320											
CCNB3	85417	genome.wustl.edu	37	chrX	50052652	50052652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttaattttaaagaggaagCatgccactcaggggacaatg	14	10	10	7	0	1	1	1	0	0	1	1	3	1	3	1	3	2	1	1	3	5	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:50052652C>T	ENST00000376042.1	+	6	1781	c.1483C>T	c.(1483-1485)Cat>Tat	p.H495Y	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.H495Y|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	495					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAAGAGGAAGCATGCCACTCA	0.443																																																	0													42	41	42					X																	50052652		2203	4300	6503	SO:0001583	missense	0			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1483C>T	X.37:g.50052652C>T	ENSP00000365210:p.His495Tyr		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	p.H495Y	ENST00000376042.1	37	c.1483	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	C	8.304	0.820590	0.16678	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.18174	2.23;2.23	3.17	-1.37	0.09056	.	4.257570	0.01082	U	0.005017	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B	0.31256	0.316	B	0.23275	0.045	T	0.10451	-1.0629	9	.	.	.	.	0.2579	0.00214	0.2043:0.2806:0.2008:0.3144	.	495	Q8WWL7	CCNB3_HUMAN	Y	495	ENSP00000365210:H495Y;ENSP00000276014:H495Y	.	H	+	1	0	CCNB3	50069392	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.324000	0.19610	-0.447000	0.07138	0.509000	0.49947	CAT	CCNB3	-	NULL	ENSG00000147082		0.443	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1		0	36	0	C			50052652	1			no_errors	ENST00000276014	ensembl	human	known	74_37	missense	11.76	29	4	SNP	0.000	T	T	50052652	C	T	50052652	3	4	185	1	0	0	0	0	1	0	0	0	2921	710	25	3	1497	3	CCNB3	23	50052652	Missense_Mutation	SNP	C	TCGA-ZR-A9CJ-01B-11D-A387-09	8994846	50052652	105217908	207	46321											
SLC9A6	10479	genome.wustl.edu	37	chrX	135126632	135126632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggaacagttgaaagatGatgattctgatcttattctc	13	13	8	7	0	3	5	0	4	3	1	4	6	3	6	1	1	1	1	1	1	3	4			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:135126632G>T	ENST00000370698.3	+	16	1794	c.1759G>T	c.(1759-1761)Gat>Tat	p.D587Y	SLC9A6_ENST00000370695.4_Missense_Mutation_p.D619Y|SLC9A6_ENST00000370701.1_Missense_Mutation_p.D567Y	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	587					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GTTGAAAGATGATGATTCTGA	0.383																																																	0													72	72	72					X																	135126632		2203	4300	6503	SO:0001583	missense	0			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1759G>T	X.37:g.135126632G>T	ENSP00000359732:p.Asp587Tyr		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.D619Y	ENST00000370698.3	37	c.1855	CCDS14654.1	X	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711947	0.68730	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.54866	0.55;0.55;0.55	5.48	5.48	0.80851	.	0.046794	0.85682	D	0.000000	T	0.59702	0.2213	M	0.68593	2.085	0.80722	D	1	P;P	0.43973	0.811;0.823	B;P	0.45232	0.359;0.474	T	0.65265	-0.6210	10	0.72032	D	0.01	.	17.4622	0.87622	0.0:0.0:1.0:0.0	.	619;587	Q92581-2;Q92581	.;SL9A6_HUMAN	Y	567;587;619	ENSP00000359735:D567Y;ENSP00000359732:D587Y;ENSP00000359729:D619Y	ENSP00000359729:D619Y	D	+	1	0	SLC9A6	134954298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.425000	0.82216	0.600000	0.82982	GAT	SLC9A6	-	prints_Na/H_exchanger_6	ENSG00000198689		0.383	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	-	0	48	0	G	NM_006359		135126632	1	tier1	-	no_errors	ENST00000370695	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	135126632	G	T	135126632	3	4	185	1	0	0	0	0	1	0	0	0	14763	1290	45	3	1917	3	SLC9A6	23	135126632	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	85073980	135126632	20143928	208	46322											
CD40LG	959	genome.wustl.edu	37	chrX	135738537	135738537	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaatcctcaaattgcGgcacatgtcataagtgaggc	13	9	10	9	1	3	2	3	1	0	1	4	3	4	2	1	2	1	1	1	2	3	2	rs148581967		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:135738537G>A	ENST00000370629.2	+	4	425	c.369G>A	c.(367-369)gcG>gcA	p.A123A	CD40LG_ENST00000370628.2_Intron	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	123			A -> E (in HIGM1). {ECO:0000269|PubMed:8094231}.		B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CTCAAATTGCGGCACATGTCA	0.463									Immune Deficiency with Hyper-IgM																																								0								G		1,3834		0,1,1631,571	170	143	152		369	-7.4	0.6	X	dbSNP_134	152	0,6728		0,0,2428,1872	no	coding-synonymous	CD40LG	NM_000074.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		123/262	135738537	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11935	protein-coding gene	gene with protein product	"CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome"	300386	"tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.369G>A	X.37:g.135738537G>A				Silent	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5	p.A123	ENST00000370629.2	37	c.369	CCDS14659.1	X																																																																																			CD40LG	-	superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom	ENSG00000102245		0.463	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	HGNC	protein_coding	OTTHUMT00000058501.1	-	0	25	0	G	NM_000074		135738537	1	tier1	rs148581967	no_errors	ENST00000370629	ensembl	human	known	74_37	silent	27.08	35	13	SNP	0.697	A	A	135738537	G	A	135738537	2	1	185	1	0	0	0	0	0	0	0	1	3023	1103	39	1		1	CD40LG	23	135738537	Silent	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	611905	135738537	19532023	209	46323											
ZIC3	7547	genome.wustl.edu	37	chrX	136648985	136648987	+	In_Frame_Del	DEL	CGC	CGC	-																															cccttcggggactcaacccaCgccgccgccgccgccgccgc																										TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	CGC	CGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:136648985_136648987delCGC	ENST00000287538.5	+	1	685_687	c.135_137delCGC	c.(133-138)cacgcc>cac	p.A55del	ZIC3_ENST00000370606.3_In_Frame_Del_p.A55del|RP1-137H15.2_ENST00000442841.1_RNA|RP1-137H15.2_ENST00000456631.1_RNA	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)					ACTCAACCCAcgccgccgccgcc	0.719																																																	0										60,940		22,10,6,431,68						4.2	1			3	130,2214		24,44,38,840,490	no	coding	ZIC3	NM_003413.3		46,54,44,1271,558	A1A1,A1R,A1,RR,R		5.5461,6.0,5.6818				190,3154				SO:0001651	inframe_deletion	0			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.135_137delCGC	X.37:g.136648994_136648996delCGC	ENSP00000287538:p.Ala55del		B2CNW4|Q14DE5|Q5JY75	In_Frame_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A49in_frame_del	ENST00000287538.5	37	c.135_137	CCDS14663.1	X																																																																																			ZIC3	-	NULL	ENSG00000156925		0.719	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1		0	15	0	CGC			136648987	1	tier1		no_errors	ENST00000287538	ensembl	human	known	74_37	in_frame_del	15.38	11	2	DEL	1.000:1.000:1.000	-	-	136648987	CGC	-	136648985	7	5	185	1	0	1	0	1	0	0	0	0	17728	535	19	0	137	0	ZIC3	23	136648985	In_Frame_Del	DEL	CGC	TCGA-ZR-A9CJ-01B-11D-A387-09	910448	136648985	18621575	210	46324											
AFF2	2334	genome.wustl.edu	37	chrX	148039901	148039901	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaagatccctgagaagaAgcagcgcctggaggaggcca	14	3	15	9	1	0	4	0	1	0	4	1	8	1	6	3	3	2	1	3	3	3	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:148039901A>C	ENST00000370460.2	+	12	3082	c.2603A>C	c.(2602-2604)aAg>aCg	p.K868T	AFF2_ENST00000370457.5_Missense_Mutation_p.K835T|AFF2_ENST00000342251.3_Missense_Mutation_p.K835T|AFF2_ENST00000286437.5_Missense_Mutation_p.K509T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	868					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)	p.K868T(1)|p.K868M(1)		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)					CCTGAGAAGAAGCAGCGCCTG	0.488																																																	2	Substitution - Missense(2)	large_intestine(2)											197	184	189					X																	148039901		2203	4300	6503	SO:0001583	missense	0			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.2603A>C	X.37:g.148039901A>C	ENSP00000359489:p.Lys868Thr		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.K868T	ENST00000370460.2	37	c.2603	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094352	0.76870	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.81	5.81	0.92471	.	0.367614	0.27384	N	0.019617	T	0.79028	0.4377	M	0.78049	2.395	0.44227	D	0.997062	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.72982	0.979;0.964;0.964;0.964;0.964;0.979	T	0.78966	-0.1995	10	0.38643	T	0.18	.	8.8274	0.35063	0.9165:0.0:0.0835:0.0	.	509;833;835;829;858;868	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	T	868;835;835;509	ENSP00000359489:K868T;ENSP00000359486:K835T;ENSP00000345459:K835T;ENSP00000286437:K509T	ENSP00000286437:K509T	K	+	2	0	AFF2	147847601	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.299000	0.65716	1.949000	0.56562	0.486000	0.48141	AAG	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.488	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0	32	0	A	NM_002025		148039901	1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	56.25	14	18	SNP	1.000	C	C	148039901	A	C	148039901	3	2	185	1	0	0	0	0	1	0	0	0	357	72	3	4	2704	4	AFF2	23	148039901	Missense_Mutation	SNP	A	TCGA-ZR-A9CJ-01B-11D-A387-09	11390916	148039901	7230659	211	46325											
MAMLD1	10046	genome.wustl.edu	37	chrX	149639339	149639339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaacagcagcagcagcaGcagcagcagcaagcaaatgt	16	2	11	12	0	0	0	0	0	0	0	0	0	0	0	0	0	11	10	0	0	3	0			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:149639339G>T	ENST00000370401.2	+	4	1804	c.1494G>T	c.(1492-1494)caG>caT	p.Q498H	MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q473H|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q473H|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q498H			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	498	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					agcagcagcagcagcagcagc	0.552																																																	0													44	43	43					X																	149639339		2203	4300	6503	SO:0001583	missense	0			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.1494G>T	X.37:g.149639339G>T	ENSP00000359428:p.Gln498His		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.Q473H	ENST00000370401.2	37	c.1419	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	G	7.078	0.569616	0.13560	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.24	-2.76	0.05896	.	0.573512	0.14585	N	0.310604	T	0.69043	0.3067	M	0.66939	2.045	0.20975	N	0.999818	D;D;D	0.59767	0.965;0.965;0.986	P;P;P	0.57152	0.748;0.66;0.814	T	0.63019	-0.6730	10	0.21014	T	0.42	-0.6792	9.8702	0.41168	0.7562:0.0:0.2438:0.0	.	473;473;498	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	H	498;473;498;473	ENSP00000359428:Q498H;ENSP00000414517:Q473H;ENSP00000262858:Q498H;ENSP00000397438:Q473H	ENSP00000262858:Q498H	Q	+	3	2	MAMLD1	149389997	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.366000	0.07563	-0.648000	0.05437	-0.268000	0.10319	CAG	MAMLD1	-	NULL	ENSG00000013619		0.552	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	-	0	16	0	G	NM_005491		149639339	1	tier1	-	no_errors	ENST00000432680	ensembl	human	known	74_37	missense	33.33	10	5	SNP	0.000	T	T	149639339	G	T	149639339	3	4	185	1	0	0	0	0	1	0	0	0	9246	962	34	3	1504	3	MAMLD1	23	149639339	Missense_Mutation	SNP	G	TCGA-ZR-A9CJ-01B-11D-A387-09	1599438	149639339	5631221	212	46326											
